GeneID chr start end strand gene_sym gene_biotype Description EntrezGeneID Cellular_Component_ID Cellular_Component_Term Molecular_Function_ID Molecular_Function_Term Biological_Process_ID Biological_Process_Term NeuStino3218 NeuStino3225 NeuStino3187 NeuStiCont3218 NeuStiCont3225 NeuStiCont3187 NeuStiHydo3218 NeuStiHydo3225 NeuStiHydo3187 ENSG00000000003 chrX 100627109 100639991 - TSPAN6 protein_coding 0 0 0 4 0 0 1 0 0 ENSG00000000005 chrX 100584802 100599885 + TNMD protein_coding This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009]. 64102 GO:0016021, GO:0005737, GO:0005635, integral component of membrane, cytoplasm, nuclear envelope, GO:0005515, protein binding, GO:0071773, GO:0035990, GO:0030948, GO:0016525, GO:0001937, GO:0001886, cellular response to BMP stimulus, tendon cell differentiation, negative regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of angiogenesis, negative regulation of endothelial cell proliferation, endothelial cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000000419 chr20 50934867 50958555 - DPM1 protein_coding Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. 8813 GO:0033185, GO:0016020, GO:0016020, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0005634, dolichol-phosphate-mannose synthase complex, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, GO:0005515, GO:0004582, GO:0004582, GO:0004169, protein binding, dolichyl-phosphate beta-D-mannosyltransferase activity, dolichyl-phosphate beta-D-mannosyltransferase activity, dolichyl-phosphate-mannose-protein mannosyltransferase activity, GO:0035269, GO:0035269, GO:0035268, GO:0019348, GO:0019348, GO:0018279, GO:0006506, GO:0006506, protein O-linked mannosylation, protein O-linked mannosylation, protein mannosylation, dolichol metabolic process, dolichol metabolic process, protein N-linked glycosylation via asparagine, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 482 399 547 264 393 314 280 301 294 ENSG00000000457 chr1 169849631 169894267 - SCYL3 protein_coding This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]. 57147 GO:0030027, GO:0005794, GO:0005737, GO:0000139, lamellipodium, Golgi apparatus, cytoplasm, Golgi membrane, GO:0042802, GO:0016301, GO:0005524, GO:0005515, identical protein binding, kinase activity, ATP binding, protein binding, GO:0048666, GO:0034613, GO:0021522, GO:0016477, GO:0006954, GO:0006468, neuron development, cellular protein localization, spinal cord motor neuron differentiation, cell migration, inflammatory response, protein phosphorylation, 177 165 228 237 306 229 199 208 175 ENSG00000000460 chr1 169662007 169854080 + C1orf112 protein_coding 55732 GO:0005515, protein binding, 74 87 94 116 165 162 99 119 103 ENSG00000000938 chr1 27612064 27635277 - FGR protein_coding This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 2268 GO:0070062, GO:0034774, GO:0032587, GO:0031234, GO:0016235, GO:0015629, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005758, GO:0005743, GO:0005576, extracellular exosome, secretory granule lumen, ruffle membrane, extrinsic component of cytoplasmic side of plasma membrane, aggresome, actin cytoskeleton, plasma membrane, plasma membrane, cytoskeleton, cytosol, mitochondrial intermembrane space, mitochondrial inner membrane, extracellular region, GO:0034988, GO:0034987, GO:0019901, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004715, GO:0004715, GO:0004713, GO:0001784, GO:0001784, Fc-gamma receptor I complex binding, immunoglobulin receptor binding, protein kinase binding, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, phosphotyrosine residue binding, phosphotyrosine residue binding, GO:0050830, GO:0050764, GO:0048705, GO:0046777, GO:0045859, GO:0045088, GO:0045087, GO:0043552, GO:0043312, GO:0043306, GO:0042127, GO:0038096, GO:0038083, GO:0032815, GO:0030335, GO:0030282, GO:0030154, GO:0018108, GO:0014068, GO:0009615, GO:0008360, GO:0007229, GO:0007229, GO:0007229, GO:0007169, GO:0006468, GO:0002768, GO:0001819, defense response to Gram-positive bacterium, regulation of phagocytosis, skeletal system morphogenesis, protein autophosphorylation, regulation of protein kinase activity, regulation of innate immune response, innate immune response, positive regulation of phosphatidylinositol 3-kinase activity, neutrophil degranulation, positive regulation of mast cell degranulation, regulation of cell population proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, peptidyl-tyrosine autophosphorylation, negative regulation of natural killer cell activation, positive regulation of cell migration, bone mineralization, cell differentiation, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, response to virus, regulation of cell shape, integrin-mediated signaling pathway, integrin-mediated signaling pathway, integrin-mediated signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, protein phosphorylation, immune response-regulating cell surface receptor signaling pathway, positive regulation of cytokine production, 10924 10223 15896 5139 9110 6791 5995 7142 5845 ENSG00000000971 chr1 196651878 196747504 + CFH protein_coding This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]. 3075 GO:0072562, GO:0070062, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, extracellular space, extracellular region, GO:0043395, GO:0042802, GO:0008201, GO:0005515, heparan sulfate proteoglycan binding, identical protein binding, heparin binding, protein binding, GO:1903659, GO:0030449, GO:0030449, GO:0016032, GO:0006957, GO:0006956, regulation of complement-dependent cytotoxicity, regulation of complement activation, regulation of complement activation, viral process, complement activation, alternative pathway, complement activation, 11 2 19 27 8 21 21 6 16 ENSG00000001036 chr6 143494811 143511690 - FUCA2 protein_coding This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]. 2519 GO:0070062, GO:0035578, GO:0005788, GO:0005764, GO:0005615, GO:0005576, extracellular exosome, azurophil granule lumen, endoplasmic reticulum lumen, lysosome, extracellular space, extracellular region, GO:0005515, GO:0004560, GO:0004560, protein binding, alpha-L-fucosidase activity, alpha-L-fucosidase activity, GO:2000535, GO:0044267, GO:0043687, GO:0043312, GO:0016139, GO:0016139, GO:0009617, GO:0006004, GO:0006004, regulation of entry of bacterium into host cell, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, glycoside catabolic process, glycoside catabolic process, response to bacterium, fucose metabolic process, fucose metabolic process, 16 26 39 27 41 39 25 37 24 ENSG00000001084 chr6 53497341 53616970 - GCLC protein_coding Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]. 2729 GO:0017109, GO:0017109, GO:0005829, GO:0005739, glutamate-cysteine ligase complex, glutamate-cysteine ligase complex, cytosol, mitochondrion, GO:0044877, GO:0043531, GO:0016595, GO:0005524, GO:0005515, GO:0004357, GO:0004357, GO:0004357, GO:0000287, protein-containing complex binding, ADP binding, glutamate binding, ATP binding, protein binding, glutamate-cysteine ligase activity, glutamate-cysteine ligase activity, glutamate-cysteine ligase activity, magnesium ion binding, GO:2001237, GO:2000490, GO:1901029, GO:0097746, GO:0097069, GO:0071372, GO:0071333, GO:0071260, GO:0070555, GO:0051900, GO:0051409, GO:0046686, GO:0046685, GO:0045892, GO:0045454, GO:0044752, GO:0044344, GO:0043524, GO:0043066, GO:0035729, GO:0032869, GO:0032436, GO:0031397, GO:0019852, GO:0014823, GO:0009725, GO:0009410, GO:0009408, GO:0007584, GO:0007568, GO:0006979, GO:0006750, GO:0006750, GO:0006750, GO:0006750, GO:0006750, GO:0006536, GO:0006534, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of hepatic stellate cell activation, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, blood vessel diameter maintenance, cellular response to thyroxine stimulus, cellular response to follicle-stimulating hormone stimulus, cellular response to glucose stimulus, cellular response to mechanical stimulus, response to interleukin-1, regulation of mitochondrial depolarization, response to nitrosative stress, response to cadmium ion, response to arsenic-containing substance, negative regulation of transcription, DNA-templated, cell redox homeostasis, response to human chorionic gonadotropin, cellular response to fibroblast growth factor stimulus, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, cellular response to hepatocyte growth factor stimulus, cellular response to insulin stimulus, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, L-ascorbic acid metabolic process, response to activity, response to hormone, response to xenobiotic stimulus, response to heat, response to nutrient, aging, response to oxidative stress, glutathione biosynthetic process, glutathione biosynthetic process, glutathione biosynthetic process, glutathione biosynthetic process, glutathione biosynthetic process, glutamate metabolic process, cysteine metabolic process, 34 27 54 99 24 98 30 30 69 ENSG00000001167 chr6 41072945 41099976 + NFYA protein_coding The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008]. 4800 GO:0090575, GO:0032993, GO:0016602, GO:0016602, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, protein-DNA complex, CCAAT-binding factor complex, CCAAT-binding factor complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0048511, GO:0045893, GO:0045540, GO:0006366, GO:0006357, GO:0006355, rhythmic process, positive regulation of transcription, DNA-templated, regulation of cholesterol biosynthetic process, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1965 1897 2587 1140 1282 1673 1265 1061 1342 ENSG00000001460 chr1 24356999 24416934 - STPG1 protein_coding 90529 GO:0005739, GO:0005634, mitochondrion, nucleus, GO:0003674, molecular_function, GO:1902110, GO:1902110, GO:0043065, positive regulation of mitochondrial membrane permeability involved in apoptotic process, positive regulation of mitochondrial membrane permeability involved in apoptotic process, positive regulation of apoptotic process, 13 3 6 36 17 31 21 5 7 ENSG00000001461 chr1 24415794 24472976 + NIPAL3 protein_coding 57185 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0015095, GO:0005515, magnesium ion transmembrane transporter activity, protein binding, GO:1903830, GO:0015693, magnesium ion transmembrane transport, magnesium ion transport, 84 52 73 185 64 127 157 40 125 ENSG00000001497 chrX 65512582 65534775 - LAS1L protein_coding 81887 GO:0090730, GO:0071339, GO:0030687, GO:0016020, GO:0005730, GO:0005654, Las1 complex, MLL1 complex, preribosome, large subunit precursor, membrane, nucleolus, nucleoplasm, GO:0005515, GO:0004519, GO:0003723, protein binding, endonuclease activity, RNA binding, GO:0090305, GO:0006364, GO:0000470, GO:0000460, nucleic acid phosphodiester bond hydrolysis, rRNA processing, maturation of LSU-rRNA, maturation of 5.8S rRNA, 27 45 58 80 39 81 75 44 66 ENSG00000001561 chr6 46129993 46146699 + ENPP4 protein_coding 22875 GO:0101003, GO:0070062, GO:0016021, GO:0016020, GO:0005886, ficolin-1-rich granule membrane, extracellular exosome, integral component of membrane, membrane, plasma membrane, GO:0047710, GO:0046872, GO:0005515, bis(5'-adenosyl)-triphosphatase activity, metal ion binding, protein binding, GO:0046130, GO:0043312, GO:0030194, GO:0007596, purine ribonucleoside catabolic process, neutrophil degranulation, positive regulation of blood coagulation, blood coagulation, 40 27 82 62 24 119 46 31 71 ENSG00000001617 chr3 50155045 50189075 + SEMA3F protein_coding This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 6405 GO:0098978, GO:0005887, GO:0005615, glutamatergic synapse, integral component of plasma membrane, extracellular space, GO:0045499, GO:0045499, GO:0030215, chemorepellent activity, chemorepellent activity, semaphorin receptor binding, GO:1902287, GO:1902285, GO:1901166, GO:0099175, GO:0097491, GO:0097490, GO:0071526, GO:0061549, GO:0050919, GO:0048846, GO:0048843, GO:0036486, GO:0030335, GO:0021785, GO:0021675, GO:0021637, GO:0021612, GO:0007411, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway involved in neuron projection guidance, neural crest cell migration involved in autonomic nervous system development, regulation of postsynapse organization, sympathetic neuron projection guidance, sympathetic neuron projection extension, semaphorin-plexin signaling pathway, sympathetic ganglion development, negative chemotaxis, axon extension involved in axon guidance, negative regulation of axon extension involved in axon guidance, ventral trunk neural crest cell migration, positive regulation of cell migration, branchiomotor neuron axon guidance, nerve development, trigeminal nerve structural organization, facial nerve structural organization, axon guidance, axon guidance, neural crest cell migration, 2 2 2 0 3 0 7 8 2 ENSG00000001626 chr7 117465784 117715971 + CFTR protein_coding This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]. 1080 GO:0055038, GO:0055037, GO:0034707, GO:0032991, GO:0031901, GO:0030665, GO:0030660, GO:0016324, GO:0016324, GO:0016324, GO:0016021, GO:0016020, GO:0010008, GO:0009986, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005789, GO:0005789, GO:0005769, GO:0005765, GO:0005737, GO:0005634, recycling endosome membrane, recycling endosome, chloride channel complex, protein-containing complex, early endosome membrane, clathrin-coated vesicle membrane, Golgi-associated vesicle membrane, apical plasma membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, membrane, endosome membrane, cell surface, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, early endosome, lysosomal membrane, cytoplasm, nucleus, GO:0106138, GO:0051087, GO:0042626, GO:0030165, GO:0019899, GO:0019869, GO:0017081, GO:0016887, GO:0016853, GO:0015108, GO:0015108, GO:0015106, GO:0015106, GO:0005524, GO:0005515, GO:0005260, GO:0005260, GO:0005254, GO:0005254, Sec61 translocon complex binding, chaperone binding, ATPase-coupled transmembrane transporter activity, PDZ domain binding, enzyme binding, chloride channel inhibitor activity, chloride channel regulator activity, ATPase activity, isomerase activity, chloride transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, bicarbonate transmembrane transporter activity, ATP binding, protein binding, intracellularly ATP-gated chloride channel activity, intracellularly ATP-gated chloride channel activity, chloride channel activity, chloride channel activity, GO:1904322, GO:1902943, GO:1902476, GO:1902476, GO:1902476, GO:1902161, GO:0071320, GO:0061024, GO:0060081, GO:0055085, GO:0055085, GO:0051454, GO:0050891, GO:0048240, GO:0045921, GO:0035774, GO:0035774, GO:0035377, GO:0034976, GO:0030301, GO:0016579, GO:0015701, GO:0015701, GO:0006904, GO:0006695, cellular response to forskolin, positive regulation of voltage-gated chloride channel activity, chloride transmembrane transport, chloride transmembrane transport, chloride transmembrane transport, positive regulation of cyclic nucleotide-gated ion channel activity, cellular response to cAMP, membrane organization, membrane hyperpolarization, transmembrane transport, transmembrane transport, intracellular pH elevation, multicellular organismal water homeostasis, sperm capacitation, positive regulation of exocytosis, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of insulin secretion involved in cellular response to glucose stimulus, transepithelial water transport, response to endoplasmic reticulum stress, cholesterol transport, protein deubiquitination, bicarbonate transport, bicarbonate transport, vesicle docking involved in exocytosis, cholesterol biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000001629 chr7 92246234 92401384 + ANKIB1 protein_coding 54467 GO:0005737, GO:0000151, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0046872, GO:0031624, GO:0005515, ubiquitin protein ligase activity, metal ion binding, ubiquitin conjugating enzyme binding, protein binding, GO:0032436, GO:0006511, GO:0000209, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 243 165 265 215 133 286 208 129 178 ENSG00000001630 chr7 92112151 92134803 - CYP51A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 1595 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0020037, GO:0016491, GO:0008398, GO:0008398, GO:0005506, GO:0004497, heme binding, oxidoreductase activity, sterol 14-demethylase activity, sterol 14-demethylase activity, iron ion binding, monooxygenase activity, GO:1900222, GO:0070988, GO:0055114, GO:0050709, GO:0045540, GO:0042177, GO:0016125, GO:0016125, GO:0006695, GO:0006694, negative regulation of amyloid-beta clearance, demethylation, oxidation-reduction process, negative regulation of protein secretion, regulation of cholesterol biosynthetic process, negative regulation of protein catabolic process, sterol metabolic process, sterol metabolic process, cholesterol biosynthetic process, steroid biosynthetic process, 4 5 2 2 8 0 3 7 15 ENSG00000001631 chr7 92198969 92246166 - KRIT1 protein_coding This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]. 889 GO:0005911, GO:0005886, GO:0005856, GO:0005737, GO:0005615, cell-cell junction, plasma membrane, cytoskeleton, cytoplasm, extracellular space, GO:0030695, GO:0008017, GO:0005546, GO:0005515, GTPase regulator activity, microtubule binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:2000352, GO:2000114, GO:0050790, GO:0045454, GO:0016525, GO:0010596, GO:0007264, GO:0001937, GO:0001525, negative regulation of endothelial cell apoptotic process, regulation of establishment of cell polarity, regulation of catalytic activity, cell redox homeostasis, negative regulation of angiogenesis, negative regulation of endothelial cell migration, small GTPase mediated signal transduction, negative regulation of endothelial cell proliferation, angiogenesis, 10 32 52 39 17 53 28 24 45 ENSG00000002016 chr12 912077 990053 - RAD52 protein_coding The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]. 5893 GO:0032993, GO:0032991, GO:0005654, GO:0005634, GO:0005634, protein-DNA complex, protein-containing complex, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0005515, GO:0003697, GO:0003677, identical protein binding, protein binding, single-stranded DNA binding, DNA binding, GO:2000819, GO:0045002, GO:0034599, GO:0010792, GO:0006974, GO:0006312, GO:0006310, GO:0006302, GO:0000730, GO:0000724, regulation of nucleotide-excision repair, double-strand break repair via single-strand annealing, cellular response to oxidative stress, DNA double-strand break processing involved in repair via single-strand annealing, cellular response to DNA damage stimulus, mitotic recombination, DNA recombination, double-strand break repair, DNA recombinase assembly, double-strand break repair via homologous recombination, 32 33 32 71 51 42 44 32 30 ENSG00000002079 chr7 99238829 99311130 + MYH16 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000002330 chr11 64269830 64284704 - BAD protein_coding The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019]. 572 GO:0005829, GO:0005829, GO:0005829, GO:0005741, GO:0005741, GO:0005739, GO:0005739, cytosol, cytosol, cytosol, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0071889, GO:0043422, GO:0030346, GO:0019903, GO:0019901, GO:0019901, GO:0008656, GO:0008656, GO:0008289, GO:0005543, GO:0005515, 14-3-3 protein binding, protein kinase B binding, protein phosphatase 2B binding, protein phosphatase binding, protein kinase binding, protein kinase binding, cysteine-type endopeptidase activator activity involved in apoptotic process, cysteine-type endopeptidase activator activity involved in apoptotic process, lipid binding, phospholipid binding, protein binding, GO:2001244, GO:2000078, GO:1904710, GO:1902220, GO:1901423, GO:1901216, GO:1900740, GO:0097202, GO:0097202, GO:0097193, GO:0097193, GO:0097192, GO:0097191, GO:0097191, GO:0090200, GO:0071456, GO:0071456, GO:0071396, GO:0071316, GO:0071260, GO:0071247, GO:0060139, GO:0051592, GO:0051384, GO:0050679, GO:0046931, GO:0046902, GO:0046902, GO:0046034, GO:0046031, GO:0045862, GO:0045582, GO:0045579, GO:0045471, GO:0044342, GO:0043280, GO:0043200, GO:0043065, GO:0043065, GO:0042593, GO:0042542, GO:0042493, GO:0035774, GO:0034201, GO:0033574, GO:0033133, GO:0032570, GO:0032355, GO:0032024, GO:0021987, GO:0019221, GO:0019050, GO:0010918, GO:0010508, GO:0009749, GO:0008630, GO:0008625, GO:0007283, GO:0006919, GO:0006915, GO:0006915, GO:0006007, GO:0001844, GO:0001836, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of type B pancreatic cell development, positive regulation of granulosa cell apoptotic process, positive regulation of intrinsic apoptotic signaling pathway in response to osmotic stress, response to benzene, positive regulation of neuron death, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, activation of cysteine-type endopeptidase activity, activation of cysteine-type endopeptidase activity, intrinsic apoptotic signaling pathway, intrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, positive regulation of release of cytochrome c from mitochondria, cellular response to hypoxia, cellular response to hypoxia, cellular response to lipid, cellular response to nicotine, cellular response to mechanical stimulus, cellular response to chromate, positive regulation of apoptotic process by virus, response to calcium ion, response to glucocorticoid, positive regulation of epithelial cell proliferation, pore complex assembly, regulation of mitochondrial membrane permeability, regulation of mitochondrial membrane permeability, ATP metabolic process, ADP metabolic process, positive regulation of proteolysis, positive regulation of T cell differentiation, positive regulation of B cell differentiation, response to ethanol, type B pancreatic cell proliferation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, response to amino acid, positive regulation of apoptotic process, positive regulation of apoptotic process, glucose homeostasis, response to hydrogen peroxide, response to drug, positive regulation of insulin secretion involved in cellular response to glucose stimulus, response to oleic acid, response to testosterone, positive regulation of glucokinase activity, response to progesterone, response to estradiol, positive regulation of insulin secretion, cerebral cortex development, cytokine-mediated signaling pathway, suppression by virus of host apoptotic process, positive regulation of mitochondrial membrane potential, positive regulation of autophagy, response to glucose, intrinsic apoptotic signaling pathway in response to DNA damage, extrinsic apoptotic signaling pathway via death domain receptors, spermatogenesis, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, apoptotic process, glucose catabolic process, protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, release of cytochrome c from mitochondria, 196 159 204 94 171 137 127 167 156 ENSG00000002549 chr4 17577192 17607972 + LAP3 protein_coding 51056 GO:0070062, GO:0030496, GO:0005925, GO:0005829, GO:0005802, GO:0005654, GO:0005634, extracellular exosome, midbody, focal adhesion, cytosol, trans-Golgi network, nucleoplasm, nucleus, GO:0070006, GO:0030145, GO:0008235, GO:0005515, GO:0004177, metalloaminopeptidase activity, manganese ion binding, metalloexopeptidase activity, protein binding, aminopeptidase activity, GO:0006508, proteolysis, 124 146 206 184 175 211 124 125 159 ENSG00000002586 chrX 2691133 2741309 + CD99 protein_coding The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. There is a related pseudogene located immediately adjacent to this locus. [provided by RefSeq, Mar 2016]. 4267 GO:0005925, GO:0005887, GO:0005886, GO:0005737, focal adhesion, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0005515, protein binding, GO:2000391, GO:0072683, GO:0050776, GO:0034109, positive regulation of neutrophil extravasation, T cell extravasation, regulation of immune response, homotypic cell-cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000002587 chr4 11393150 11429765 - HS3ST1 protein_coding Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]. 9957 GO:0005796, Golgi lumen, GO:0008467, GO:0008146, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, sulfotransferase activity, GO:0006024, glycosaminoglycan biosynthetic process, 1 0 0 0 1 0 0 0 1 ENSG00000002726 chr7 150824627 150861504 + AOC1 protein_coding This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]. 26 GO:0070062, GO:0070062, GO:0035580, GO:0005923, GO:0005886, GO:0005886, GO:0005886, GO:0005777, GO:0005615, GO:0005576, extracellular exosome, extracellular exosome, specific granule lumen, bicellular tight junction, plasma membrane, plasma membrane, plasma membrane, peroxisome, extracellular space, extracellular region, GO:0052600, GO:0052599, GO:0052598, GO:0052597, GO:0052597, GO:0048038, GO:0044877, GO:0042803, GO:0008270, GO:0008201, GO:0008131, GO:0008131, GO:0005515, GO:0005509, GO:0005507, GO:0005507, propane-1,3-diamine oxidase activity, methylputrescine oxidase activity, histamine oxidase activity, diamine oxidase activity, diamine oxidase activity, quinone binding, protein-containing complex binding, protein homodimerization activity, zinc ion binding, heparin binding, primary amine oxidase activity, primary amine oxidase activity, protein binding, calcium ion binding, copper ion binding, copper ion binding, GO:0097185, GO:0071504, GO:0071420, GO:0071280, GO:0055114, GO:0046677, GO:0046677, GO:0043312, GO:0035874, GO:0009445, GO:0009308, GO:0006805, cellular response to azide, cellular response to heparin, cellular response to histamine, cellular response to copper ion, oxidation-reduction process, response to antibiotic, response to antibiotic, neutrophil degranulation, cellular response to copper ion starvation, putrescine metabolic process, amine metabolic process, xenobiotic metabolic process, 3 13 46 0 6 2 0 4 11 ENSG00000002745 chr7 121325367 121341104 + WNT16 protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]. 51384 GO:0005737, GO:0005615, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0005125, GO:0005109, cytokine activity, frizzled binding, GO:0090403, GO:0090399, GO:0060548, GO:0060317, GO:0060070, GO:0046849, GO:0046330, GO:0045165, GO:0043616, GO:0030216, GO:0030182, GO:0016055, GO:0014068, GO:0010628, GO:0003408, oxidative stress-induced premature senescence, replicative senescence, negative regulation of cell death, cardiac epithelial to mesenchymal transition, canonical Wnt signaling pathway, bone remodeling, positive regulation of JNK cascade, cell fate commitment, keratinocyte proliferation, keratinocyte differentiation, neuron differentiation, Wnt signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of gene expression, optic cup formation involved in camera-type eye development, 0 0 4 1 1 0 1 0 6 ENSG00000002746 chr7 43112599 43566001 + HECW1 protein_coding 23072 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0061630, GO:0061630, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein binding, GO:2000650, GO:0090090, GO:0048814, GO:0045732, GO:0043161, GO:0016567, GO:0000209, negative regulation of sodium ion transmembrane transporter activity, negative regulation of canonical Wnt signaling pathway, regulation of dendrite morphogenesis, positive regulation of protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, protein polyubiquitination, 0 0 0 1 4 0 0 0 0 ENSG00000002822 chr7 1815793 2233243 - MAD1L1 protein_coding MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 8379 GO:0097431, GO:0072686, GO:0072686, GO:0044615, GO:0005829, GO:0005819, GO:0005813, GO:0005635, GO:0000777, GO:0000776, GO:0000776, GO:0000776, mitotic spindle pole, mitotic spindle, mitotic spindle, nuclear pore nuclear basket, cytosol, spindle, centrosome, nuclear envelope, condensed chromosome kinetochore, kinetochore, kinetochore, kinetochore, GO:0043515, GO:0042802, GO:0005515, kinetochore binding, identical protein binding, protein binding, GO:0090235, GO:0051315, GO:0051301, GO:0048538, GO:0042130, GO:0007094, GO:0007094, GO:0007093, regulation of metaphase plate congression, attachment of mitotic spindle microtubules to kinetochore, cell division, thymus development, negative regulation of T cell proliferation, mitotic spindle assembly checkpoint, mitotic spindle assembly checkpoint, mitotic cell cycle checkpoint, 48 54 86 95 64 95 53 35 77 ENSG00000002834 chr17 38869859 38921770 + LASP1 protein_coding This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]. 3927 GO:0030864, GO:0005925, GO:0005925, GO:0005737, cortical actin cytoskeleton, focal adhesion, focal adhesion, cytoplasm, GO:0051015, GO:0046872, GO:0045296, GO:0015075, GO:0005515, actin filament binding, metal ion binding, cadherin binding, ion transmembrane transporter activity, protein binding, GO:0034220, GO:0006811, ion transmembrane transport, ion transport, 8298 7901 11600 3652 4953 5970 4867 4596 4824 ENSG00000002919 chr17 48103357 48123074 + SNX11 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008]. 29916 GO:0016020, GO:0005768, membrane, endosome, GO:1901981, GO:0005515, phosphatidylinositol phosphate binding, protein binding, GO:0016050, GO:0006886, vesicle organization, intracellular protein transport, 438 379 640 208 503 302 281 425 342 ENSG00000002933 chr7 150800403 150805120 + TMEM176A protein_coding 55365 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:2001199, GO:2001199, negative regulation of dendritic cell differentiation, negative regulation of dendritic cell differentiation, 0 1 8 2 11 29 0 7 10 ENSG00000003056 chr12 8940363 8949955 - M6PR protein_coding This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]. 4074 GO:0048471, GO:0032588, GO:0030665, GO:0030133, GO:0016020, GO:0005887, GO:0005886, GO:0005802, GO:0005770, GO:0005768, GO:0005765, perinuclear region of cytoplasm, trans-Golgi network membrane, clathrin-coated vesicle membrane, transport vesicle, membrane, integral component of plasma membrane, plasma membrane, trans-Golgi network, late endosome, endosome, lysosomal membrane, GO:1905394, GO:0019904, GO:0005515, GO:0004888, retromer complex binding, protein domain specific binding, protein binding, transmembrane signaling receptor activity, GO:0061024, GO:0033299, GO:0008333, GO:0007041, GO:0006898, GO:0006622, membrane organization, secretion of lysosomal enzymes, endosome to lysosome transport, lysosomal transport, receptor-mediated endocytosis, protein targeting to lysosome, 410 448 504 827 842 840 681 559 518 ENSG00000003096 chrX 117897813 118117340 - KLHL13 protein_coding This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 90293 GO:0031463, GO:0030496, GO:0005829, Cul3-RING ubiquitin ligase complex, midbody, cytosol, GO:0097602, GO:0047485, GO:0005515, GO:0004842, cullin family protein binding, protein N-terminus binding, protein binding, ubiquitin-protein transferase activity, GO:0051301, GO:0043687, GO:0032465, GO:0016567, GO:0016567, GO:0007049, cell division, post-translational protein modification, regulation of cytokinesis, protein ubiquitination, protein ubiquitination, cell cycle, 0 4 1 5 0 0 3 0 0 ENSG00000003137 chr2 72129238 72148038 - CYP26B1 protein_coding This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. 56603 GO:0005789, GO:0005737, endoplasmic reticulum membrane, cytoplasm, GO:0020037, GO:0016709, GO:0016491, GO:0008401, GO:0005515, GO:0005506, GO:0004497, GO:0001972, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, retinoic acid 4-hydroxylase activity, protein binding, iron ion binding, monooxygenase activity, retinoic acid binding, GO:2001037, GO:0071300, GO:0070268, GO:0061436, GO:0060349, GO:0055114, GO:0055114, GO:0048387, GO:0048384, GO:0045580, GO:0043587, GO:0042573, GO:0034653, GO:0033189, GO:0030326, GO:0016125, GO:0010628, GO:0009954, GO:0007283, GO:0007140, GO:0006954, GO:0006805, GO:0006766, GO:0001822, GO:0001768, GO:0001709, positive regulation of tongue muscle cell differentiation, cellular response to retinoic acid, cornification, establishment of skin barrier, bone morphogenesis, oxidation-reduction process, oxidation-reduction process, negative regulation of retinoic acid receptor signaling pathway, retinoic acid receptor signaling pathway, regulation of T cell differentiation, tongue morphogenesis, retinoic acid metabolic process, retinoic acid catabolic process, response to vitamin A, embryonic limb morphogenesis, sterol metabolic process, positive regulation of gene expression, proximal/distal pattern formation, spermatogenesis, male meiotic nuclear division, inflammatory response, xenobiotic metabolic process, vitamin metabolic process, kidney development, establishment of T cell polarity, cell fate determination, 0 0 0 0 0 0 0 0 0 ENSG00000003147 chr7 8113184 8262687 - ICA1 protein_coding This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]. 3382 GO:0043231, GO:0030672, GO:0030667, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0000139, intracellular membrane-bounded organelle, synaptic vesicle membrane, secretory granule membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, Golgi membrane, GO:0140090, GO:0019904, GO:0005515, membrane curvature sensor activity, protein domain specific binding, protein binding, GO:0051049, GO:0050796, GO:0006836, regulation of transport, regulation of insulin secretion, neurotransmitter transport, 50 67 73 27 77 66 33 70 69 ENSG00000003249 chr16 90004865 90020128 - DBNDD1 protein_coding 79007 GO:0005737, cytoplasm, GO:0006469, negative regulation of protein kinase activity, 0 3 1 0 7 11 4 3 0 ENSG00000003393 chr2 201700554 201781189 - ALS2 protein_coding The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 57679 GO:0043197, GO:0043025, GO:0032991, GO:0031982, GO:0030426, GO:0030425, GO:0030027, GO:0016020, GO:0014069, GO:0005829, GO:0005829, GO:0005813, GO:0005769, GO:0005634, GO:0001726, dendritic spine, neuronal cell body, protein-containing complex, vesicle, growth cone, dendrite, lamellipodium, membrane, postsynaptic density, cytosol, cytosol, centrosome, early endosome, nucleus, ruffle, GO:0043539, GO:0042803, GO:0042802, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005085, GO:0005085, protein serine/threonine kinase activator activity, protein homodimerization activity, identical protein binding, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0071902, GO:0051260, GO:0051036, GO:0048812, GO:0045860, GO:0043547, GO:0035249, GO:0035022, GO:0016601, GO:0016197, GO:0008219, GO:0008104, GO:0007626, GO:0007528, GO:0007409, GO:0007041, GO:0007032, GO:0007032, GO:0006979, GO:0001881, GO:0001701, GO:0001662, positive regulation of protein serine/threonine kinase activity, protein homooligomerization, regulation of endosome size, neuron projection morphogenesis, positive regulation of protein kinase activity, positive regulation of GTPase activity, synaptic transmission, glutamatergic, positive regulation of Rac protein signal transduction, Rac protein signal transduction, endosomal transport, cell death, protein localization, locomotory behavior, neuromuscular junction development, axonogenesis, lysosomal transport, endosome organization, endosome organization, response to oxidative stress, receptor recycling, in utero embryonic development, behavioral fear response, 172 141 220 155 125 159 152 101 108 ENSG00000003400 chr2 201182881 201229406 + CASP10 protein_coding This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]. 843 GO:0097342, GO:0031265, GO:0005829, GO:0005737, ripoptosome, CD95 death-inducing signaling complex, cytosol, cytoplasm, GO:0097200, GO:0097199, GO:0097199, GO:0097153, GO:0035877, GO:0035877, GO:0031625, GO:0005515, GO:0004197, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, death effector domain binding, death effector domain binding, ubiquitin protein ligase binding, protein binding, cysteine-type endopeptidase activity, GO:0097194, GO:0097190, GO:0043123, GO:0042981, GO:0007166, GO:0006919, GO:0006915, GO:0006508, execution phase of apoptosis, apoptotic signaling pathway, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, cell surface receptor signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, proteolysis, 151 238 183 228 454 291 276 273 210 ENSG00000003402 chr2 201116104 201176687 + CFLAR protein_coding The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]. 8837 GO:0097342, GO:0045121, GO:0031265, GO:0031264, GO:0005829, GO:0005737, GO:0005737, ripoptosome, membrane raft, CD95 death-inducing signaling complex, death-inducing signaling complex, cytosol, cytoplasm, cytoplasm, GO:0097200, GO:0097199, GO:0097153, GO:0044877, GO:0016504, GO:0008047, GO:0005515, GO:0005123, GO:0002020, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, protein-containing complex binding, peptidase activator activity, enzyme activator activity, protein binding, death receptor binding, protease binding, GO:2001237, GO:2001237, GO:2000347, GO:1903944, GO:1903845, GO:1903427, GO:1903055, GO:1902042, GO:1902042, GO:1902042, GO:1902042, GO:1902041, GO:1901740, GO:0097194, GO:0097190, GO:0072126, GO:0071732, GO:0071549, GO:0071456, GO:0071392, GO:0071364, GO:0070374, GO:0060546, GO:0060544, GO:0051092, GO:0043403, GO:0043154, GO:0043123, GO:0043066, GO:0042060, GO:0033574, GO:0032869, GO:0016032, GO:0014866, GO:0014842, GO:0014732, GO:0010976, GO:0010667, GO:0009617, GO:0007519, GO:0006919, GO:0006915, GO:0006915, GO:0006508, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of hepatocyte proliferation, negative regulation of hepatocyte apoptotic process, negative regulation of cellular response to transforming growth factor beta stimulus, negative regulation of reactive oxygen species biosynthetic process, positive regulation of extracellular matrix organization, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of myoblast fusion, execution phase of apoptosis, apoptotic signaling pathway, positive regulation of glomerular mesangial cell proliferation, cellular response to nitric oxide, cellular response to dexamethasone stimulus, cellular response to hypoxia, cellular response to estradiol stimulus, cellular response to epidermal growth factor stimulus, positive regulation of ERK1 and ERK2 cascade, negative regulation of necroptotic process, regulation of necroptotic process, positive regulation of NF-kappaB transcription factor activity, skeletal muscle tissue regeneration, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, wound healing, response to testosterone, cellular response to insulin stimulus, viral process, skeletal myofibril assembly, regulation of skeletal muscle satellite cell proliferation, skeletal muscle atrophy, positive regulation of neuron projection development, negative regulation of cardiac muscle cell apoptotic process, response to bacterium, skeletal muscle tissue development, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, apoptotic process, proteolysis, 15045 15993 15426 11046 17427 14904 13993 13251 13097 ENSG00000003436 chr2 187464230 187565760 - TFPI protein_coding This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]. 7035 GO:0031225, GO:0031090, GO:0009986, GO:0009986, GO:0005901, GO:0005886, GO:0005783, GO:0005615, GO:0005615, GO:0005576, anchored component of membrane, organelle membrane, cell surface, cell surface, caveola, plasma membrane, endoplasmic reticulum, extracellular space, extracellular space, extracellular region, GO:0004867, GO:0004866, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0071383, GO:0071347, GO:0071222, GO:0032355, GO:0030195, GO:0010951, GO:0007598, GO:0007596, cellular response to steroid hormone stimulus, cellular response to interleukin-1, cellular response to lipopolysaccharide, response to estradiol, negative regulation of blood coagulation, negative regulation of endopeptidase activity, blood coagulation, extrinsic pathway, blood coagulation, 0 1 0 2 0 0 1 0 0 ENSG00000003509 chr2 37231631 37253403 + NDUFAF7 protein_coding This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 55471 GO:0005759, GO:0005739, GO:0005739, GO:0005615, mitochondrial matrix, mitochondrion, mitochondrion, extracellular space, GO:0035243, GO:0035243, GO:0019899, GO:0008168, GO:0005515, protein-arginine omega-N symmetric methyltransferase activity, protein-arginine omega-N symmetric methyltransferase activity, enzyme binding, methyltransferase activity, protein binding, GO:0032981, GO:0032981, GO:0032981, GO:0019918, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, peptidyl-arginine methylation, to symmetrical-dimethyl arginine, 118 108 145 173 156 107 132 84 107 ENSG00000003756 chr3 50088908 50119021 + RBM5 protein_coding This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]. 10181 GO:0005681, GO:0005654, GO:0005654, GO:0005634, GO:0005634, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003677, metal ion binding, protein binding, mRNA binding, RNA binding, RNA binding, DNA binding, GO:0043065, GO:0043065, GO:0008285, GO:0006915, GO:0006396, GO:0000398, GO:0000398, GO:0000381, GO:0000245, positive regulation of apoptotic process, positive regulation of apoptotic process, negative regulation of cell population proliferation, apoptotic process, RNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, spliceosomal complex assembly, 3065 3419 4648 3528 4775 4606 3750 2977 3506 ENSG00000003987 chr8 17298030 17413528 - MTMR7 protein_coding This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]. 9108 GO:0016020, GO:0016020, GO:0012505, GO:0005829, GO:0005737, GO:0005737, membrane, membrane, endomembrane system, cytosol, cytoplasm, cytoplasm, GO:0005515, GO:0004725, GO:0004438, protein binding, protein tyrosine phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:0046856, GO:0035335, GO:0006661, GO:0006470, phosphatidylinositol dephosphorylation, peptidyl-tyrosine dephosphorylation, phosphatidylinositol biosynthetic process, protein dephosphorylation, 48 67 53 29 29 33 21 24 25 ENSG00000003989 chr8 17497088 17570573 + SLC7A2 protein_coding The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 6542 GO:0030054, GO:0005887, GO:0005886, GO:0005886, GO:0005886, cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0061459, GO:0015189, GO:0015181, GO:0015174, GO:0015171, GO:0015171, GO:0000064, L-arginine transmembrane transporter activity, L-lysine transmembrane transporter activity, arginine transmembrane transporter activity, basic amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, L-ornithine transmembrane transporter activity, GO:1903401, GO:1903352, GO:0150104, GO:0097638, GO:0050727, GO:0043030, GO:0042116, GO:0006865, GO:0006865, GO:0006809, GO:0002537, L-lysine transmembrane transport, L-ornithine transmembrane transport, transport across blood-brain barrier, L-arginine import across plasma membrane, regulation of inflammatory response, regulation of macrophage activation, macrophage activation, amino acid transport, amino acid transport, nitric oxide biosynthetic process, nitric oxide production involved in inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000004059 chr7 127588345 127591705 + ARF5 protein_coding This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010]. 381 GO:0070062, GO:0048471, GO:0005886, GO:0005794, GO:0005737, extracellular exosome, perinuclear region of cytoplasm, plasma membrane, Golgi apparatus, cytoplasm, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0016192, GO:0006890, GO:0006886, vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, 892 786 894 586 840 733 647 678 686 ENSG00000004139 chr17 28364356 28404049 + SARM1 protein_coding 23098 GO:0045202, GO:0031315, GO:0030425, GO:0030425, GO:0030424, GO:0005874, GO:0005829, GO:0005739, GO:0005737, synapse, extrinsic component of mitochondrial outer membrane, dendrite, dendrite, axon, microtubule, cytosol, mitochondrion, cytoplasm, GO:0061809, GO:0050135, GO:0035591, GO:0005515, GO:0003953, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, signaling adaptor activity, protein binding, NAD+ nucleosidase activity, GO:1901216, GO:1901214, GO:1901214, GO:0048814, GO:0048678, GO:0045087, GO:0042981, GO:0034128, GO:0019677, GO:0009749, GO:0007165, positive regulation of neuron death, regulation of neuron death, regulation of neuron death, regulation of dendrite morphogenesis, response to axon injury, innate immune response, regulation of apoptotic process, negative regulation of MyD88-independent toll-like receptor signaling pathway, NAD catabolic process, response to glucose, signal transduction, 41 35 41 95 47 111 87 54 54 ENSG00000004142 chr17 28347177 28357522 - POLDIP2 protein_coding This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 26073 GO:0042645, GO:0042645, GO:0005759, GO:0005739, GO:0005634, GO:0005634, mitochondrial nucleoid, mitochondrial nucleoid, mitochondrial matrix, mitochondrion, nucleus, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0070987, GO:0070987, GO:0070584, GO:0045931, GO:0016242, error-free translesion synthesis, error-free translesion synthesis, mitochondrion morphogenesis, positive regulation of mitotic cell cycle, negative regulation of macroautophagy, 173 175 223 172 172 161 163 136 208 ENSG00000004399 chr3 129555175 129606818 - PLXND1 protein_coding 23129 GO:0031258, GO:0030027, GO:0005887, GO:0005887, GO:0005886, GO:0002116, lamellipodium membrane, lamellipodium, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, semaphorin receptor complex, GO:0019904, GO:0017154, GO:0017154, GO:0005515, protein domain specific binding, semaphorin receptor activity, semaphorin receptor activity, protein binding, GO:1902287, GO:0071526, GO:0060976, GO:0060666, GO:0050772, GO:0045765, GO:0043542, GO:0043542, GO:0043087, GO:0035904, GO:0032092, GO:0030334, GO:0030334, GO:0008360, GO:0007416, GO:0007221, GO:0007162, GO:0003279, GO:0003151, GO:0001822, GO:0001569, GO:0001525, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway, coronary vasculature development, dichotomous subdivision of terminal units involved in salivary gland branching, positive regulation of axonogenesis, regulation of angiogenesis, endothelial cell migration, endothelial cell migration, regulation of GTPase activity, aorta development, positive regulation of protein binding, regulation of cell migration, regulation of cell migration, regulation of cell shape, synapse assembly, positive regulation of transcription of Notch receptor target, negative regulation of cell adhesion, cardiac septum development, outflow tract morphogenesis, kidney development, branching involved in blood vessel morphogenesis, angiogenesis, 48 57 139 81 52 109 86 60 109 ENSG00000004455 chr1 33007940 33080996 - AK2 protein_coding Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]. 204 GO:0097226, GO:0070062, GO:0005758, GO:0005739, GO:0005737, sperm mitochondrial sheath, extracellular exosome, mitochondrial intermembrane space, mitochondrion, cytoplasm, GO:0005524, GO:0005515, GO:0004017, GO:0004017, ATP binding, protein binding, adenylate kinase activity, adenylate kinase activity, GO:0046940, GO:0046034, GO:0046033, GO:0016310, GO:0015949, GO:0009132, GO:0006172, GO:0006163, nucleoside monophosphate phosphorylation, ATP metabolic process, AMP metabolic process, phosphorylation, nucleobase-containing small molecule interconversion, nucleoside diphosphate metabolic process, ADP biosynthetic process, purine nucleotide metabolic process, 421 305 582 236 226 368 204 207 204 ENSG00000004468 chr4 15778275 15853230 + CD38 protein_coding The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 952 GO:0070062, GO:0030667, GO:0016323, GO:0016021, GO:0016020, GO:0009986, GO:0005886, GO:0005886, GO:0005634, extracellular exosome, secretory granule membrane, basolateral plasma membrane, integral component of membrane, membrane, cell surface, plasma membrane, plasma membrane, nucleus, GO:0061809, GO:0050135, GO:0042802, GO:0016849, GO:0016740, GO:0003953, GO:0003953, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, identical protein binding, phosphorus-oxygen lyase activity, transferase activity, NAD+ nucleosidase activity, NAD+ nucleosidase activity, GO:0097190, GO:0070555, GO:0060292, GO:0050853, GO:0045907, GO:0045893, GO:0045892, GO:0045779, GO:0043066, GO:0042493, GO:0033194, GO:0032570, GO:0032526, GO:0032355, GO:0032024, GO:0030890, GO:0030890, GO:0030307, GO:0019674, GO:0014824, GO:0010977, GO:0007565, GO:0007204, GO:0007165, GO:0001666, apoptotic signaling pathway, response to interleukin-1, long-term synaptic depression, B cell receptor signaling pathway, positive regulation of vasoconstriction, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of bone resorption, negative regulation of apoptotic process, response to drug, response to hydroperoxide, response to progesterone, response to retinoic acid, response to estradiol, positive regulation of insulin secretion, positive regulation of B cell proliferation, positive regulation of B cell proliferation, positive regulation of cell growth, NAD metabolic process, artery smooth muscle contraction, negative regulation of neuron projection development, female pregnancy, positive regulation of cytosolic calcium ion concentration, signal transduction, response to hypoxia, 42 45 44 54 79 92 51 77 57 ENSG00000004478 chr12 2794953 2805423 + FKBP4 protein_coding The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]. 2288 GO:0070062, GO:0048471, GO:0044295, GO:0043025, GO:0032991, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, extracellular exosome, perinuclear region of cytoplasm, axonal growth cone, neuronal cell body, protein-containing complex, microtubule, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, GO:0051219, GO:0048156, GO:0035259, GO:0032767, GO:0031072, GO:0030674, GO:0005528, GO:0005525, GO:0005524, GO:0005515, GO:0003755, GO:0003755, GO:0003723, phosphoprotein binding, tau protein binding, glucocorticoid receptor binding, copper-dependent protein binding, heat shock protein binding, protein-macromolecule adaptor activity, FK506 binding, GTP binding, ATP binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, RNA binding, GO:1900034, GO:0061077, GO:0061077, GO:0046661, GO:0031503, GO:0031115, GO:0031111, GO:0030850, GO:0030521, GO:0010977, GO:0007566, GO:0006825, GO:0006463, GO:0006457, GO:0000413, regulation of cellular response to heat, chaperone-mediated protein folding, chaperone-mediated protein folding, male sex differentiation, protein-containing complex localization, negative regulation of microtubule polymerization, negative regulation of microtubule polymerization or depolymerization, prostate gland development, androgen receptor signaling pathway, negative regulation of neuron projection development, embryo implantation, copper ion transport, steroid hormone receptor complex assembly, protein folding, protein peptidyl-prolyl isomerization, 68 51 180 160 66 138 95 51 99 ENSG00000004487 chr1 23019443 23083689 + KDM1A protein_coding This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 23028 GO:1990391, GO:0032991, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, GO:0000781, DNA repair complex, protein-containing complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, chromosome, telomeric region, GO:1990841, GO:0061752, GO:0050681, GO:0050660, GO:0050660, GO:0043426, GO:0042162, GO:0034648, GO:0034648, GO:0032454, GO:0032454, GO:0032453, GO:0032452, GO:0032452, GO:0032451, GO:0030374, GO:0019899, GO:0016491, GO:0016491, GO:0008134, GO:0008134, GO:0005515, GO:0003682, GO:0003682, GO:0002039, GO:0001085, promoter-specific chromatin binding, telomeric repeat-containing RNA binding, androgen receptor binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, MRF binding, telomeric DNA binding, histone demethylase activity (H3-dimethyl-K4 specific), histone demethylase activity (H3-dimethyl-K4 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K4 specific), histone demethylase activity, histone demethylase activity, demethylase activity, nuclear receptor coactivator activity, enzyme binding, oxidoreductase activity, oxidoreductase activity, transcription factor binding, transcription factor binding, protein binding, chromatin binding, chromatin binding, p53 binding, RNA polymerase II transcription factor binding, GO:2000648, GO:2000179, GO:1903827, GO:1902166, GO:0120162, GO:0071480, GO:0071320, GO:0060992, GO:0055114, GO:0055001, GO:0051573, GO:0051572, GO:0051091, GO:0046098, GO:0045944, GO:0045944, GO:0045892, GO:0045793, GO:0043518, GO:0043433, GO:0043433, GO:0043392, GO:0042551, GO:0035563, GO:0034720, GO:0034644, GO:0033184, GO:0033169, GO:0032091, GO:0021987, GO:0010976, GO:0010569, GO:0007596, GO:0006482, GO:0006357, GO:0002052, GO:0000380, GO:0000122, GO:0000122, GO:0000122, positive regulation of stem cell proliferation, positive regulation of neural precursor cell proliferation, regulation of cellular protein localization, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of cold-induced thermogenesis, cellular response to gamma radiation, cellular response to cAMP, response to fungicide, oxidation-reduction process, muscle cell development, negative regulation of histone H3-K9 methylation, negative regulation of histone H3-K4 methylation, positive regulation of DNA-binding transcription factor activity, guanine metabolic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of cell size, negative regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA binding, neuron maturation, positive regulation of chromatin binding, histone H3-K4 demethylation, cellular response to UV, positive regulation of histone ubiquitination, histone H3-K9 demethylation, negative regulation of protein binding, cerebral cortex development, positive regulation of neuron projection development, regulation of double-strand break repair via homologous recombination, blood coagulation, protein demethylation, regulation of transcription by RNA polymerase II, positive regulation of neuroblast proliferation, alternative mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 50 42 65 97 45 126 85 48 63 ENSG00000004534 chr3 49940007 50100045 + RBM6 protein_coding 10180 GO:0005634, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003677, protein binding, RNA binding, RNA binding, DNA binding, GO:0006396, GO:0000398, RNA processing, mRNA splicing, via spliceosome, 396 550 587 659 648 734 582 473 472 ENSG00000004660 chr17 3860315 3894891 - CAMKK1 protein_coding The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 84254 GO:0005829, GO:0005737, GO:0005654, cytosol, cytoplasm, nucleoplasm, GO:0005524, GO:0005516, GO:0005515, GO:0004683, GO:0004674, ATP binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, GO:0045860, GO:0035556, GO:0006468, positive regulation of protein kinase activity, intracellular signal transduction, protein phosphorylation, 495 480 422 586 718 501 685 505 438 ENSG00000004700 chr12 21468911 21501669 - RECQL protein_coding The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]. 5965 GO:0016020, GO:0005737, GO:0005694, GO:0005654, GO:0005634, membrane, cytoplasm, chromosome, nucleoplasm, nucleus, GO:0043138, GO:0036310, GO:0036310, GO:0009378, GO:0005524, GO:0005515, GO:0003678, GO:0003677, 3'-5' DNA helicase activity, annealing helicase activity, annealing helicase activity, four-way junction helicase activity, ATP binding, protein binding, DNA helicase activity, DNA binding, GO:0032508, GO:0006310, GO:0006281, GO:0006268, GO:0000733, GO:0000724, DNA duplex unwinding, DNA recombination, DNA repair, DNA unwinding involved in DNA replication, DNA strand renaturation, double-strand break repair via homologous recombination, 244 215 287 333 226 367 297 206 233 ENSG00000004766 chr7 93232340 93361121 + VPS50 protein_coding 55610 GO:1990745, GO:1990745, GO:0070062, GO:0055037, GO:0016020, GO:0005829, EARP complex, EARP complex, extracellular exosome, recycling endosome, membrane, cytosol, GO:0005515, GO:0000149, GO:0000149, protein binding, SNARE binding, SNARE binding, GO:0042147, GO:0032456, GO:0032456, GO:0032456, GO:0015031, retrograde transport, endosome to Golgi, endocytic recycling, endocytic recycling, endocytic recycling, protein transport, 30 19 48 75 44 104 33 29 53 ENSG00000004776 chr19 35754569 35758079 - HSPB6 protein_coding This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]. 126393 GO:0005829, GO:0005794, GO:0005737, GO:0005730, GO:0005634, GO:0005576, cytosol, Golgi apparatus, cytoplasm, nucleolus, nucleus, extracellular region, GO:0051087, GO:0051082, GO:0042803, GO:0005515, GO:0005212, chaperone binding, unfolded protein binding, protein homodimerization activity, protein binding, structural constituent of eye lens, GO:0061077, GO:0045766, GO:0010667, GO:0006937, chaperone-mediated protein folding, positive regulation of angiogenesis, negative regulation of cardiac muscle cell apoptotic process, regulation of muscle contraction, 2 1 0 0 1 0 0 0 4 ENSG00000004777 chr19 35774532 35788822 + ARHGAP33 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]. 115703 GO:0043197, GO:0032991, GO:0005886, GO:0005829, GO:0005737, dendritic spine, protein-containing complex, plasma membrane, cytosol, cytoplasm, GO:0035091, GO:0019901, GO:0005515, GO:0005096, phosphatidylinositol binding, protein kinase binding, protein binding, GTPase activator activity, GO:0061001, GO:0051056, GO:0043547, GO:0015031, GO:0009636, GO:0007264, regulation of dendritic spine morphogenesis, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, protein transport, response to toxic substance, small GTPase mediated signal transduction, 10 31 54 22 19 48 33 32 26 ENSG00000004779 chr16 23581002 23596356 - NDUFAB1 protein_coding 4706 GO:0031966, GO:0031966, GO:0005762, GO:0005759, GO:0005747, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, GO:0005739, GO:0005654, mitochondrial membrane, mitochondrial membrane, mitochondrial large ribosomal subunit, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0008137, GO:0005515, GO:0005509, GO:0005504, GO:0000036, GO:0000036, GO:0000035, NADH dehydrogenase (ubiquinone) activity, protein binding, calcium ion binding, fatty acid binding, acyl carrier activity, acyl carrier activity, acyl binding, GO:0032981, GO:0032981, GO:0009249, GO:0006633, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, protein lipoylation, fatty acid biosynthetic process, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 26 23 39 42 35 71 29 17 50 ENSG00000004799 chr7 95583499 95596491 - PDK4 protein_coding This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]. 5166 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005524, GO:0005515, GO:0004740, GO:0004674, GO:0004672, ATP binding, protein binding, pyruvate dehydrogenase (acetyl-transferring) kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000811, GO:1904183, GO:0072593, GO:0071398, GO:0046320, GO:0045124, GO:0042594, GO:0042593, GO:0042593, GO:0042304, GO:0010906, GO:0010565, GO:0010510, GO:0010510, GO:0009267, GO:0008286, GO:0006885, GO:0006468, GO:0006006, negative regulation of anoikis, negative regulation of pyruvate dehydrogenase activity, reactive oxygen species metabolic process, cellular response to fatty acid, regulation of fatty acid oxidation, regulation of bone resorption, response to starvation, glucose homeostasis, glucose homeostasis, regulation of fatty acid biosynthetic process, regulation of glucose metabolic process, regulation of cellular ketone metabolic process, regulation of acetyl-CoA biosynthetic process from pyruvate, regulation of acetyl-CoA biosynthetic process from pyruvate, cellular response to starvation, insulin receptor signaling pathway, regulation of pH, protein phosphorylation, glucose metabolic process, 9 53 63 13 48 38 12 50 48 ENSG00000004809 chr6 110424687 110476641 - SLC22A16 protein_coding This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011]. 85413 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0015226, GO:0015101, GO:0015101, GO:0005275, carnitine transmembrane transporter activity, organic cation transmembrane transporter activity, organic cation transmembrane transporter activity, amine transmembrane transporter activity, GO:1902603, GO:0046717, GO:0030317, GO:0030154, GO:0015879, GO:0015837, GO:0015695, GO:0015695, GO:0007338, GO:0007283, GO:0007275, carnitine transmembrane transport, acid secretion, flagellated sperm motility, cell differentiation, carnitine transport, amine transport, organic cation transport, organic cation transport, single fertilization, spermatogenesis, multicellular organism development, 2 0 0 0 1 1 0 2 0 ENSG00000004838 chr3 50341110 50346852 - ZMYND10 protein_coding This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 51364 GO:0034451, GO:0034451, GO:0016324, GO:0005737, GO:0005737, centriolar satellite, centriolar satellite, apical plasma membrane, cytoplasm, cytoplasm, GO:0060090, GO:0046872, GO:0044183, GO:0005515, molecular adaptor activity, metal ion binding, protein folding chaperone, protein binding, GO:1905505, GO:0061512, GO:0044458, GO:0044458, GO:0036159, GO:0036159, GO:0036159, GO:0036158, GO:0036158, GO:0036158, GO:0006457, GO:0003341, positive regulation of motile cilium assembly, protein localization to cilium, motile cilium assembly, motile cilium assembly, inner dynein arm assembly, inner dynein arm assembly, inner dynein arm assembly, outer dynein arm assembly, outer dynein arm assembly, outer dynein arm assembly, protein folding, cilium movement, 15 9 12 30 43 13 31 29 35 ENSG00000004846 chr7 20615207 20777038 + ABCB5 protein_coding ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]. 340273 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0042626, GO:0016887, GO:0015562, GO:0005524, ATPase-coupled transmembrane transporter activity, ATPase activity, efflux transmembrane transporter activity, ATP binding, GO:0055085, GO:0055085, GO:0055085, GO:0042391, GO:0030154, GO:0001654, transmembrane transport, transmembrane transport, transmembrane transport, regulation of membrane potential, cell differentiation, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000004848 chrX 25003694 25016420 - ARX protein_coding This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]. 170302 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0003682, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0072148, GO:0048484, GO:0046622, GO:0044241, GO:0042127, GO:0021853, GO:0021846, GO:0021831, GO:0021800, GO:0021759, GO:0010628, GO:0007411, GO:0006357, GO:0000122, epithelial cell fate commitment, enteric nervous system development, positive regulation of organ growth, lipid digestion, regulation of cell population proliferation, cerebral cortex GABAergic interneuron migration, cell proliferation in forebrain, embryonic olfactory bulb interneuron precursor migration, cerebral cortex tangential migration, globus pallidus development, positive regulation of gene expression, axon guidance, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000004864 chr7 96120220 96322147 - SLC25A13 protein_coding This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 10165 GO:0005887, GO:0005743, GO:0005743, GO:0005739, integral component of plasma membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0042802, GO:0022857, GO:0015183, GO:0015183, GO:0005509, GO:0005347, GO:0005313, GO:0005313, identical protein binding, transmembrane transporter activity, L-aspartate transmembrane transporter activity, L-aspartate transmembrane transporter activity, calcium ion binding, ATP transmembrane transporter activity, L-glutamate transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:0070778, GO:0051592, GO:0045333, GO:0043490, GO:0043490, GO:0015867, GO:0015813, GO:0015813, GO:0015810, GO:0015810, GO:0006839, GO:0006810, GO:0006754, GO:0006094, L-aspartate transmembrane transport, response to calcium ion, cellular respiration, malate-aspartate shuttle, malate-aspartate shuttle, ATP transport, L-glutamate transmembrane transport, L-glutamate transmembrane transport, aspartate transmembrane transport, aspartate transmembrane transport, mitochondrial transport, transport, ATP biosynthetic process, gluconeogenesis, 67 88 79 69 136 121 98 157 95 ENSG00000004866 chr7 116953238 117230103 + ST7 protein_coding The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]. 7982 GO:0016021, integral component of membrane, GO:0045595, GO:0030198, regulation of cell differentiation, extracellular matrix organization, 2 5 13 9 8 13 22 8 16 ENSG00000004897 chr17 47117703 47189422 - CDC27 protein_coding The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]. 996 GO:0005876, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005680, GO:0005680, GO:0005654, GO:0005654, GO:0005634, spindle microtubule, cytosol, centrosome, cytoplasm, cytoplasm, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, nucleoplasm, nucleus, GO:0019903, GO:0005515, protein phosphatase binding, protein binding, GO:1901990, GO:0070979, GO:0051301, GO:0045842, GO:0031145, GO:0031145, GO:0016567, GO:0007091, GO:0007091, GO:0006511, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, cell division, positive regulation of mitotic metaphase/anaphase transition, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, protein ubiquitination, metaphase/anaphase transition of mitotic cell cycle, metaphase/anaphase transition of mitotic cell cycle, ubiquitin-dependent protein catabolic process, 179 158 241 202 227 210 268 186 188 ENSG00000004939 chr17 44248385 44268141 - SLC4A1 protein_coding The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]. 6521 GO:0072562, GO:0070062, GO:0030863, GO:0030018, GO:0016323, GO:0016323, GO:0016021, GO:0009898, GO:0005887, GO:0005886, GO:0005886, blood microparticle, extracellular exosome, cortical cytoskeleton, Z disc, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, cytoplasmic side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0043495, GO:0042803, GO:0030506, GO:0030492, GO:0022857, GO:0015301, GO:0015301, GO:0015108, GO:0015106, GO:0015106, GO:0008509, GO:0005515, GO:0005452, protein-membrane adaptor activity, protein homodimerization activity, ankyrin binding, hemoglobin binding, transmembrane transporter activity, anion:anion antiporter activity, anion:anion antiporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, bicarbonate transmembrane transporter activity, anion transmembrane transporter activity, protein binding, inorganic anion exchanger activity, GO:1904539, GO:1902476, GO:0072659, GO:0055085, GO:0051453, GO:0051354, GO:0050801, GO:0048821, GO:0045852, GO:0035811, GO:0017121, GO:0015701, GO:0015701, GO:0015701, GO:0007596, GO:0006873, GO:0006821, GO:0006820, negative regulation of glycolytic process through fructose-6-phosphate, chloride transmembrane transport, protein localization to plasma membrane, transmembrane transport, regulation of intracellular pH, negative regulation of oxidoreductase activity, ion homeostasis, erythrocyte development, pH elevation, negative regulation of urine volume, plasma membrane phospholipid scrambling, bicarbonate transport, bicarbonate transport, bicarbonate transport, blood coagulation, cellular ion homeostasis, chloride transport, anion transport, 2 0 1 18 0 1 0 0 0 ENSG00000004948 chr7 93424487 93574730 - CALCR protein_coding This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 799 GO:0150058, GO:0150057, GO:0150056, GO:0030424, GO:0005887, GO:0005886, GO:0005886, amylin receptor complex 3, amylin receptor complex 2, amylin receptor complex 1, axon, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0097643, GO:0097643, GO:0097643, GO:0032841, GO:0032841, GO:0032841, GO:0008528, GO:0005515, GO:0004948, GO:0001635, GO:0001540, amylin receptor activity, amylin receptor activity, amylin receptor activity, calcitonin binding, calcitonin binding, calcitonin binding, G protein-coupled peptide receptor activity, protein binding, calcitonin receptor activity, calcitonin gene-related peptide receptor activity, amyloid-beta binding, GO:1905665, GO:1904645, GO:0097647, GO:0097647, GO:0070374, GO:0051897, GO:0051384, GO:0038041, GO:0033138, GO:0010942, GO:0010739, GO:0010628, GO:0007204, GO:0007190, GO:0007189, GO:0007189, GO:0007189, GO:0007189, GO:0007188, GO:0007186, GO:0007166, positive regulation of calcium ion import across plasma membrane, response to amyloid-beta, amylin receptor signaling pathway, amylin receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, response to glucocorticoid, cross-receptor inhibition within G protein-coupled receptor heterodimer, positive regulation of peptidyl-serine phosphorylation, positive regulation of cell death, positive regulation of protein kinase A signaling, positive regulation of gene expression, positive regulation of cytosolic calcium ion concentration, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000004961 chrX 11111301 11123078 + HCCS protein_coding The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]. 3052 GO:0016020, GO:0005743, GO:0005739, GO:0005739, membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0046872, GO:0020037, GO:0005515, GO:0004408, GO:0004408, metal ion binding, heme binding, protein binding, holocytochrome-c synthase activity, holocytochrome-c synthase activity, GO:0055114, GO:0018063, GO:0018063, GO:0009887, oxidation-reduction process, cytochrome c-heme linkage, cytochrome c-heme linkage, animal organ morphogenesis, 75 41 114 44 35 47 26 18 31 ENSG00000004975 chr17 7225341 7234545 - DVL2 protein_coding This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]. 1856 GO:0045334, GO:0045177, GO:0031410, GO:0016604, GO:0016328, GO:0016235, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, clathrin-coated endocytic vesicle, apical part of cell, cytoplasmic vesicle, nuclear body, lateral plasma membrane, aggresome, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0043621, GO:0042802, GO:0031267, GO:0030674, GO:0019904, GO:0019901, GO:0005515, GO:0005109, GO:0005109, GO:0005109, protein self-association, identical protein binding, small GTPase binding, protein-macromolecule adaptor activity, protein domain specific binding, protein kinase binding, protein binding, frizzled binding, frizzled binding, frizzled binding, GO:1904886, GO:0150012, GO:0090179, GO:0090103, GO:0090090, GO:0061098, GO:0061024, GO:0060071, GO:0060071, GO:0060071, GO:0060070, GO:0060070, GO:0060070, GO:0051091, GO:0045944, GO:0044340, GO:0043547, GO:0043507, GO:0043507, GO:0035567, GO:0035567, GO:0035329, GO:0034613, GO:0022007, GO:0007507, GO:0007379, GO:0006355, GO:0003151, GO:0001934, GO:0001843, beta-catenin destruction complex disassembly, positive regulation of neuron projection arborization, planar cell polarity pathway involved in neural tube closure, cochlea morphogenesis, negative regulation of canonical Wnt signaling pathway, positive regulation of protein tyrosine kinase activity, membrane organization, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, canonical Wnt signaling pathway involved in regulation of cell proliferation, positive regulation of GTPase activity, positive regulation of JUN kinase activity, positive regulation of JUN kinase activity, non-canonical Wnt signaling pathway, non-canonical Wnt signaling pathway, hippo signaling, cellular protein localization, convergent extension involved in neural plate elongation, heart development, segment specification, regulation of transcription, DNA-templated, outflow tract morphogenesis, positive regulation of protein phosphorylation, neural tube closure, 134 177 131 202 161 122 209 162 126 ENSG00000005001 chr16 2852727 2858170 - PRSS22 protein_coding This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]. 64063 GO:0005615, extracellular space, GO:0016504, GO:0004252, peptidase activator activity, serine-type endopeptidase activity, GO:0010952, GO:0006508, positive regulation of peptidase activity, proteolysis, 1 0 0 1 0 0 2 0 0 ENSG00000005007 chr19 18831938 18868236 + UPF1 protein_coding This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 5976 GO:0044530, GO:0035145, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0000932, GO:0000785, GO:0000781, supraspliceosomal complex, exon-exon junction complex, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, P-body, chromatin, chromosome, telomeric region, GO:0042162, GO:0008270, GO:0005524, GO:0005515, GO:0004386, GO:0003724, GO:0003724, GO:0003723, GO:0003723, GO:0003723, GO:0003723, GO:0003682, telomeric DNA binding, zinc ion binding, ATP binding, protein binding, helicase activity, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, RNA binding, RNA binding, chromatin binding, GO:0071347, GO:0071222, GO:0071044, GO:0061158, GO:0061158, GO:0061014, GO:0061014, GO:0044770, GO:0032204, GO:0032201, GO:0016032, GO:0009048, GO:0006449, GO:0006449, GO:0006406, GO:0006281, GO:0006260, GO:0000956, GO:0000294, GO:0000184, GO:0000184, GO:0000184, GO:0000184, GO:0000184, cellular response to interleukin-1, cellular response to lipopolysaccharide, histone mRNA catabolic process, 3'-UTR-mediated mRNA destabilization, 3'-UTR-mediated mRNA destabilization, positive regulation of mRNA catabolic process, positive regulation of mRNA catabolic process, cell cycle phase transition, regulation of telomere maintenance, telomere maintenance via semi-conservative replication, viral process, dosage compensation by inactivation of X chromosome, regulation of translational termination, regulation of translational termination, mRNA export from nucleus, DNA repair, DNA replication, nuclear-transcribed mRNA catabolic process, nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 2100 2395 2320 1865 2546 2077 1937 1833 1820 ENSG00000005020 chr7 26667062 26995239 - SKAP2 protein_coding The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]. 8935 GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0065003, GO:0042113, GO:0008285, GO:0007165, protein-containing complex assembly, B cell activation, negative regulation of cell population proliferation, signal transduction, 3528 4210 5113 975 2436 1771 1476 2224 1593 ENSG00000005022 chrX 119468400 119471319 + SLC25A5 protein_coding This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]. 292 GO:0071817, GO:0045121, GO:0042645, GO:0016020, GO:0016020, GO:0005887, GO:0005743, GO:0005739, GO:0005739, GO:0005634, MMXD complex, membrane raft, mitochondrial nucleoid, membrane, membrane, integral component of plasma membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleus, GO:0031625, GO:0015207, GO:0005515, GO:0005471, GO:0003723, GO:0000295, ubiquitin protein ligase binding, adenine transmembrane transporter activity, protein binding, ATP:ADP antiporter activity, RNA binding, adenine nucleotide transmembrane transporter activity, GO:1990830, GO:1990544, GO:1901029, GO:0140021, GO:0051503, GO:0050796, GO:0016032, GO:0015853, GO:0008284, GO:0007059, cellular response to leukemia inhibitory factor, mitochondrial ATP transmembrane transport, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, mitochondrial ADP transmembrane transport, adenine nucleotide transport, regulation of insulin secretion, viral process, adenine transport, positive regulation of cell population proliferation, chromosome segregation, 342 347 420 567 474 595 401 424 398 ENSG00000005059 chr4 109560205 109688726 + MCUB protein_coding 55013 GO:1990246, GO:1990246, GO:0043231, GO:0034704, GO:0031305, GO:0031305, GO:0031224, GO:0005743, GO:0005739, GO:0005739, GO:0005654, uniplex complex, uniplex complex, intracellular membrane-bounded organelle, calcium channel complex, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, intrinsic component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0019855, GO:0019855, GO:0005216, calcium channel inhibitor activity, calcium channel inhibitor activity, ion channel activity, GO:0051560, GO:0051560, GO:0036444, GO:0006851, GO:0006851, mitochondrial calcium ion homeostasis, mitochondrial calcium ion homeostasis, calcium import into the mitochondrion, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, 58 22 78 206 105 178 179 53 148 ENSG00000005073 chr7 27181510 27185223 - HOXA11 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]. 3207 GO:0032993, GO:0032991, GO:0005667, GO:0005654, GO:0005634, protein-DNA complex, protein-containing complex, transcription regulator complex, nucleoplasm, nucleus, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060351, GO:0060272, GO:0060065, GO:0048856, GO:0048589, GO:0045893, GO:0042733, GO:0035115, GO:0032332, GO:0030326, GO:0010720, GO:0009954, GO:0009953, GO:0009952, GO:0009653, GO:0008584, GO:0007501, GO:0007338, GO:0007283, GO:0007275, GO:0006357, GO:0006357, GO:0001759, GO:0001658, GO:0001656, GO:0001501, cartilage development involved in endochondral bone morphogenesis, embryonic skeletal joint morphogenesis, uterus development, anatomical structure development, developmental growth, positive regulation of transcription, DNA-templated, embryonic digit morphogenesis, embryonic forelimb morphogenesis, positive regulation of chondrocyte differentiation, embryonic limb morphogenesis, positive regulation of cell development, proximal/distal pattern formation, dorsal/ventral pattern formation, anterior/posterior pattern specification, anatomical structure morphogenesis, male gonad development, mesodermal cell fate specification, single fertilization, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, organ induction, branching involved in ureteric bud morphogenesis, metanephros development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000005075 chr7 102473118 102478907 - POLR2J protein_coding This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008]. 5439 GO:0005665, GO:0005665, GO:0005654, GO:0005634, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleus, GO:0046983, GO:0030275, GO:0005515, GO:0003899, GO:0003677, GO:0001055, protein dimerization activity, LRR domain binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, RNA polymerase II activity, GO:0060964, GO:0050434, GO:0042795, GO:0035019, GO:0016070, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006351, GO:0006283, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, RNA metabolic process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, 446 301 320 223 317 290 246 302 259 ENSG00000005100 chr17 5440912 5469060 - DHX33 protein_coding This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. 56919 GO:0072559, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005634, GO:0005622, NLRP3 inflammasome complex, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleus, intracellular anatomical structure, GO:0043023, GO:0033613, GO:0005524, GO:0005515, GO:0003729, GO:0003725, GO:0003724, GO:0003723, GO:0003723, GO:0000182, ribosomal large subunit binding, activating transcription factor binding, ATP binding, protein binding, mRNA binding, double-stranded RNA binding, RNA helicase activity, RNA binding, RNA binding, rDNA binding, GO:1900227, GO:0051092, GO:0045943, GO:0045943, GO:0043410, GO:0032481, GO:0006413, positive regulation of NLRP3 inflammasome complex assembly, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription by RNA polymerase I, positive regulation of transcription by RNA polymerase I, positive regulation of MAPK cascade, positive regulation of type I interferon production, translational initiation, 27 37 30 37 24 37 60 31 19 ENSG00000005102 chr17 43640388 43661954 - MEOX1 protein_coding This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 4222 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0071837, GO:0043565, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, HMG box domain binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0061056, GO:0061053, GO:0061053, GO:0060218, GO:0008150, GO:0007275, GO:0006357, GO:0001757, sclerotome development, somite development, somite development, hematopoietic stem cell differentiation, biological_process, multicellular organism development, regulation of transcription by RNA polymerase II, somite specification, 2 1 4 1 6 5 3 2 0 ENSG00000005108 chr7 11370357 11832198 - THSD7A protein_coding The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]. 221981 GO:0042995, GO:0016021, GO:0005886, GO:0005886, GO:0005576, cell projection, integral component of membrane, plasma membrane, plasma membrane, extracellular region, GO:0005515, protein binding, GO:0031532, GO:0030154, GO:0001525, actin cytoskeleton reorganization, cell differentiation, angiogenesis, 0 1 1 0 0 0 2 6 0 ENSG00000005156 chr17 34980494 35009743 + LIG3 protein_coding This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 3980 GO:0070421, GO:0005739, GO:0005737, GO:0005654, GO:0005654, DNA ligase III-XRCC1 complex, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, GO:0008270, GO:0005524, GO:0005515, GO:0003910, GO:0003909, GO:0003909, GO:0003677, zinc ion binding, ATP binding, protein binding, DNA ligase (ATP) activity, DNA ligase activity, DNA ligase activity, DNA binding, GO:0097681, GO:0090298, GO:0071897, GO:0051301, GO:0051103, GO:0043504, GO:0033151, GO:0007049, GO:0006302, GO:0006297, GO:0006288, GO:0006288, GO:0006288, GO:0006283, GO:0006273, GO:0000724, double-strand break repair via alternative nonhomologous end joining, negative regulation of mitochondrial DNA replication, DNA biosynthetic process, cell division, DNA ligation involved in DNA repair, mitochondrial DNA repair, V(D)J recombination, cell cycle, double-strand break repair, nucleotide-excision repair, DNA gap filling, base-excision repair, DNA ligation, base-excision repair, DNA ligation, base-excision repair, DNA ligation, transcription-coupled nucleotide-excision repair, lagging strand elongation, double-strand break repair via homologous recombination, 418 391 545 390 642 656 482 524 595 ENSG00000005175 chr12 47661249 47706061 - RPAP3 protein_coding This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. 79657 GO:0097255, GO:0005829, R2TP complex, cytosol, GO:0005515, protein binding, 377 328 367 268 277 288 260 241 206 ENSG00000005187 chr16 20610243 20797581 + ACSM3 protein_coding 6296 GO:0005759, GO:0005575, mitochondrial matrix, cellular_component, GO:0050218, GO:0047760, GO:0046872, GO:0018729, GO:0015645, GO:0005524, GO:0004321, GO:0003996, GO:0003674, propionate-CoA ligase activity, butyrate-CoA ligase activity, metal ion binding, propionate CoA-transferase activity, fatty acid ligase activity, ATP binding, fatty-acyl-CoA synthase activity, acyl-CoA ligase activity, molecular_function, GO:0042632, GO:0008217, GO:0006637, GO:0006633, cholesterol homeostasis, regulation of blood pressure, acyl-CoA metabolic process, fatty acid biosynthetic process, 15 31 55 11 18 10 4 3 3 ENSG00000005189 chr16 20806429 20849668 + REXO5 protein_coding 81691 GO:0070062, GO:0005730, GO:0005634, extracellular exosome, nucleolus, nucleus, GO:0004527, GO:0003723, exonuclease activity, RNA binding, GO:0090305, nucleic acid phosphodiester bond hydrolysis, 1 2 8 1 1 6 4 2 1 ENSG00000005194 chr16 57428169 57447528 - CIAPIN1 protein_coding CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]. 57019 GO:0005758, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0005730, GO:0005654, mitochondrial intermembrane space, mitochondrion, cytoplasm, cytoplasm, cytoplasm, nucleolus, nucleoplasm, GO:0051539, GO:0051537, GO:0046872, GO:0009055, GO:0008168, GO:0005515, 4 iron, 4 sulfur cluster binding, 2 iron, 2 sulfur cluster binding, metal ion binding, electron transfer activity, methyltransferase activity, protein binding, GO:0043066, GO:0030097, GO:0022900, GO:0016226, GO:0006915, negative regulation of apoptotic process, hemopoiesis, electron transport chain, iron-sulfur cluster assembly, apoptotic process, 36 41 38 73 38 52 36 46 40 ENSG00000005206 chr19 2328615 2354806 + SPPL2B protein_coding This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 56928 GO:0071556, GO:0071556, GO:0071458, GO:0071458, GO:0030660, GO:0030660, GO:0016020, GO:0015629, GO:0010008, GO:0005886, GO:0005886, GO:0005813, GO:0005765, GO:0005765, GO:0005654, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, integral component of lumenal side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, Golgi-associated vesicle membrane, Golgi-associated vesicle membrane, membrane, actin cytoskeleton, endosome membrane, plasma membrane, plasma membrane, centrosome, lysosomal membrane, lysosomal membrane, nucleoplasm, Golgi membrane, GO:0042803, GO:0042500, GO:0042500, GO:0042500, GO:0042500, GO:0005515, protein homodimerization activity, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, protein binding, GO:0050776, GO:0033619, GO:0033619, GO:0031293, GO:0031293, GO:0010803, GO:0006509, regulation of immune response, membrane protein proteolysis, membrane protein proteolysis, membrane protein intracellular domain proteolysis, membrane protein intracellular domain proteolysis, regulation of tumor necrosis factor-mediated signaling pathway, membrane protein ectodomain proteolysis, 140 164 160 180 216 148 190 156 122 ENSG00000005238 chr9 35104112 35116341 - FAM214B protein_coding 80256 GO:0005634, nucleus, GO:0005515, protein binding, 3155 2663 3020 1195 2208 1688 1335 1591 1358 ENSG00000005243 chr17 48026167 48038030 - COPZ2 protein_coding This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]. 51226 GO:0033116, GO:0030133, GO:0030126, GO:0030126, GO:0030126, GO:0005829, GO:0005801, GO:0005789, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, transport vesicle, COPI vesicle coat, COPI vesicle coat, COPI vesicle coat, cytosol, cis-Golgi network, endoplasmic reticulum membrane, Golgi membrane, GO:0006891, GO:0006890, GO:0006890, GO:0006888, GO:0006886, GO:0006886, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, intracellular protein transport, 1 0 0 0 6 3 5 0 0 ENSG00000005249 chr7 107044649 107161811 + PRKAR2B protein_coding cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]. 5577 GO:0098978, GO:0097546, GO:0070062, GO:0048471, GO:0045121, GO:0043198, GO:0043197, GO:0043025, GO:0005952, GO:0005886, GO:0005829, GO:0005813, GO:0005737, glutamatergic synapse, ciliary base, extracellular exosome, perinuclear region of cytoplasm, membrane raft, dendritic shaft, dendritic spine, neuronal cell body, cAMP-dependent protein kinase complex, plasma membrane, cytosol, centrosome, cytoplasm, GO:0034236, GO:0031625, GO:0030552, GO:0019904, GO:0008603, GO:0008603, GO:0005515, GO:0004862, protein kinase A catalytic subunit binding, ubiquitin protein ligase binding, cAMP binding, protein domain specific binding, cAMP-dependent protein kinase regulator activity, cAMP-dependent protein kinase regulator activity, protein binding, cAMP-dependent protein kinase inhibitor activity, GO:2000480, GO:0097711, GO:0097338, GO:0097332, GO:0071377, GO:0050804, GO:0043949, GO:0035556, GO:0034199, GO:0010738, GO:0010389, GO:0007612, GO:0007596, GO:0006631, GO:0003091, GO:0000086, negative regulation of cAMP-dependent protein kinase activity, ciliary basal body-plasma membrane docking, response to clozapine, response to antipsychotic drug, cellular response to glucagon stimulus, modulation of chemical synaptic transmission, regulation of cAMP-mediated signaling, intracellular signal transduction, activation of protein kinase A activity, regulation of protein kinase A signaling, regulation of G2/M transition of mitotic cell cycle, learning, blood coagulation, fatty acid metabolic process, renal water homeostasis, G2/M transition of mitotic cell cycle, 3 5 6 14 6 11 12 5 7 ENSG00000005302 chrX 11758159 11775772 + MSL3 protein_coding This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]. 10943 GO:0072487, GO:0072487, GO:0035267, GO:0005654, GO:0005634, GO:0000123, MSL complex, MSL complex, NuA4 histone acetyltransferase complex, nucleoplasm, nucleus, histone acetyltransferase complex, GO:0046972, GO:0035064, GO:0005515, GO:0003677, histone acetyltransferase activity (H4-K16 specific), methylated histone binding, protein binding, DNA binding, GO:0043984, GO:0043984, GO:0043984, GO:0043968, GO:0043967, GO:0016575, GO:0016573, GO:0006355, GO:0006342, histone H4-K16 acetylation, histone H4-K16 acetylation, histone H4-K16 acetylation, histone H2A acetylation, histone H4 acetylation, histone deacetylation, histone acetylation, regulation of transcription, DNA-templated, chromatin silencing, 839 641 980 855 642 1010 887 492 783 ENSG00000005339 chr16 3725054 3880726 - CREBBP protein_coding This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]. 1387 GO:0016604, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000123, nuclear body, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, histone acetyltransferase complex, GO:0061733, GO:0043426, GO:0031490, GO:0016407, GO:0016407, GO:0008270, GO:0008134, GO:0005515, GO:0004402, GO:0004402, GO:0004402, GO:0003714, GO:0003713, GO:0003713, GO:0003713, GO:0003713, GO:0003684, GO:0003682, GO:0002039, GO:0001102, GO:0001085, GO:0001085, peptide-lysine-N-acetyltransferase activity, MRF binding, chromatin DNA binding, acetyltransferase activity, acetyltransferase activity, zinc ion binding, transcription factor binding, protein binding, histone acetyltransferase activity, histone acetyltransferase activity, histone acetyltransferase activity, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, damaged DNA binding, chromatin binding, p53 binding, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, RNA polymerase II transcription factor binding, GO:1990258, GO:1904837, GO:1900034, GO:0065003, GO:0061418, GO:0048511, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045747, GO:0045637, GO:0042981, GO:0042733, GO:0042592, GO:0034644, GO:0032481, GO:0031648, GO:0030511, GO:0019216, GO:0018076, GO:0016573, GO:0016573, GO:0016032, GO:0008589, GO:0007221, GO:0007219, GO:0007165, GO:0006473, GO:0006473, GO:0006367, GO:0006355, GO:0002223, GO:0001666, GO:0000122, histone glutamine methylation, beta-catenin-TCF complex assembly, regulation of cellular response to heat, protein-containing complex assembly, regulation of transcription from RNA polymerase II promoter in response to hypoxia, rhythmic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, regulation of myeloid cell differentiation, regulation of apoptotic process, embryonic digit morphogenesis, homeostatic process, cellular response to UV, positive regulation of type I interferon production, protein destabilization, positive regulation of transforming growth factor beta receptor signaling pathway, regulation of lipid metabolic process, N-terminal peptidyl-lysine acetylation, histone acetylation, histone acetylation, viral process, regulation of smoothened signaling pathway, positive regulation of transcription of Notch receptor target, Notch signaling pathway, signal transduction, protein acetylation, protein acetylation, transcription initiation from RNA polymerase II promoter, regulation of transcription, DNA-templated, stimulatory C-type lectin receptor signaling pathway, response to hypoxia, negative regulation of transcription by RNA polymerase II, 7406 8226 9650 3415 4965 4605 3795 3561 3978 ENSG00000005379 chr17 58301228 58328760 - TSPOAP1 protein_coding 9256 GO:0098978, GO:0044305, GO:0005829, GO:0005739, GO:0005739, GO:0005737, glutamatergic synapse, calyx of Held, cytosol, mitochondrion, mitochondrion, cytoplasm, GO:0099626, GO:0030156, GO:0030156, GO:0005515, voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels, benzodiazepine receptor binding, benzodiazepine receptor binding, protein binding, GO:0099509, GO:0014047, GO:0008150, GO:0007274, GO:0007269, GO:0006700, regulation of presynaptic cytosolic calcium ion concentration, glutamate secretion, biological_process, neuromuscular synaptic transmission, neurotransmitter secretion, C21-steroid hormone biosynthetic process, 246 218 372 550 435 707 759 377 624 ENSG00000005381 chr17 58269856 58280935 - MPO protein_coding Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]. 4353 GO:0097013, GO:0070062, GO:0043231, GO:0042582, GO:0035578, GO:0030141, GO:0005764, GO:0005654, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, phagocytic vesicle lumen, extracellular exosome, intracellular membrane-bounded organelle, azurophil granule, azurophil granule lumen, secretory granule, lysosome, nucleoplasm, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, GO:0046872, GO:0020037, GO:0008201, GO:0005515, GO:0004601, GO:0004601, GO:0003682, metal ion binding, heme binding, heparin binding, protein binding, peroxidase activity, peroxidase activity, chromatin binding, GO:0055114, GO:0050832, GO:0045454, GO:0043312, GO:0043066, GO:0042744, GO:0042742, GO:0034374, GO:0019430, GO:0006979, GO:0006952, GO:0002679, GO:0002149, GO:0001878, oxidation-reduction process, defense response to fungus, cell redox homeostasis, neutrophil degranulation, negative regulation of apoptotic process, hydrogen peroxide catabolic process, defense response to bacterium, low-density lipoprotein particle remodeling, removal of superoxide radicals, response to oxidative stress, defense response, respiratory burst involved in defense response, hypochlorous acid biosynthetic process, response to yeast, 1 6 18 2 6 17 3 14 33 ENSG00000005421 chr7 95297676 95324707 - PON1 protein_coding This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]. 5444 GO:0072562, GO:0070062, GO:0043231, GO:0034366, GO:0034364, GO:0034364, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, intracellular membrane-bounded organelle, spherical high-density lipoprotein particle, high-density lipoprotein particle, high-density lipoprotein particle, extracellular space, extracellular space, extracellular region, extracellular region, GO:0102007, GO:0042803, GO:0005543, GO:0005509, GO:0004064, GO:0004064, GO:0004064, GO:0004063, GO:0004063, acyl-L-homoserine-lactone lactonohydrolase activity, protein homodimerization activity, phospholipid binding, calcium ion binding, arylesterase activity, arylesterase activity, arylesterase activity, aryldialkylphosphatase activity, aryldialkylphosphatase activity, GO:1902617, GO:0070542, GO:0051099, GO:0046470, GO:0046434, GO:0046395, GO:0034445, GO:0032411, GO:0031667, GO:0019439, GO:0019372, GO:0016311, GO:0010875, GO:0009636, GO:0008203, response to fluoride, response to fatty acid, positive regulation of binding, phosphatidylcholine metabolic process, organophosphate catabolic process, carboxylic acid catabolic process, negative regulation of plasma lipoprotein oxidation, positive regulation of transporter activity, response to nutrient levels, aromatic compound catabolic process, lipoxygenase pathway, dephosphorylation, positive regulation of cholesterol efflux, response to toxic substance, cholesterol metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000005436 chr2 75652000 75710989 - GCFC2 protein_coding The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]. 6936 GO:0071008, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, U2-type post-mRNA release spliceosomal complex, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0045892, GO:0006355, GO:0000398, GO:0000398, GO:0000245, negative regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal complex assembly, 16 12 37 62 18 56 55 19 32 ENSG00000005448 chr2 74421678 74425755 + WDR54 protein_coding 84058 GO:0031982, vesicle, GO:0042803, protein homodimerization activity, GO:0043408, GO:0042058, GO:0002091, regulation of MAPK cascade, regulation of epidermal growth factor receptor signaling pathway, negative regulation of receptor internalization, 0 6 12 26 4 29 22 3 2 ENSG00000005469 chr7 87345681 87399795 + CROT protein_coding This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]. 54677 GO:0043231, GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005777, intracellular membrane-bounded organelle, cytosol, peroxisomal matrix, peroxisome, peroxisome, peroxisome, GO:0008458, GO:0008458, GO:0008458, carnitine O-octanoyltransferase activity, carnitine O-octanoyltransferase activity, carnitine O-octanoyltransferase activity, GO:0051791, GO:0033540, GO:0015936, GO:0015908, GO:0009437, GO:0006635, GO:0006631, GO:0006625, GO:0006091, medium-chain fatty acid metabolic process, fatty acid beta-oxidation using acyl-CoA oxidase, coenzyme A metabolic process, fatty acid transport, carnitine metabolic process, fatty acid beta-oxidation, fatty acid metabolic process, protein targeting to peroxisome, generation of precursor metabolites and energy, 22 15 16 26 19 37 46 10 32 ENSG00000005471 chr7 87401697 87480435 - ABCB4 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]. 5244 GO:0070062, GO:0046581, GO:0045121, GO:0030136, GO:0016324, GO:0016021, GO:0016020, GO:0015629, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005654, extracellular exosome, intercellular canaliculus, membrane raft, clathrin-coated vesicle, apical plasma membrane, integral component of membrane, membrane, actin cytoskeleton, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleoplasm, GO:0099038, GO:0090554, GO:0090554, GO:0090554, GO:0042626, GO:0042626, GO:0042626, GO:0016887, GO:0005548, GO:0005524, GO:0005515, ceramide floppase activity, phosphatidylcholine floppase activity, phosphatidylcholine floppase activity, phosphatidylcholine floppase activity, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase activity, phospholipid transporter activity, ATP binding, protein binding, GO:2001140, GO:2001140, GO:1903413, GO:1901557, GO:0099040, GO:0061092, GO:0055088, GO:0055085, GO:0045332, GO:0045332, GO:0045332, GO:0032782, GO:0032376, GO:0032376, GO:0019216, GO:0006629, positive regulation of phospholipid transport, positive regulation of phospholipid transport, cellular response to bile acid, response to fenofibrate, ceramide translocation, positive regulation of phospholipid translocation, lipid homeostasis, transmembrane transport, phospholipid translocation, phospholipid translocation, phospholipid translocation, bile acid secretion, positive regulation of cholesterol transport, positive regulation of cholesterol transport, regulation of lipid metabolic process, lipid metabolic process, 0 5 0 7 2 0 2 4 5 ENSG00000005483 chr7 105014179 105114361 + KMT2E protein_coding This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]. 55904 GO:0043231, GO:0035327, GO:0032991, GO:0016607, GO:0016604, GO:0005886, GO:0005815, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, transcriptionally active chromatin, protein-containing complex, nuclear speck, nuclear body, plasma membrane, microtubule organizing center, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0035064, GO:0035064, GO:0019899, GO:0018024, GO:0005515, metal ion binding, methylated histone binding, methylated histone binding, enzyme binding, histone-lysine N-methyltransferase activity, protein binding, GO:1905437, GO:1900087, GO:0045893, GO:0045652, GO:0042119, GO:0034968, GO:0030218, GO:0007050, GO:0006306, GO:0002446, positive regulation of histone H3-K4 trimethylation, positive regulation of G1/S transition of mitotic cell cycle, positive regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, neutrophil activation, histone lysine methylation, erythrocyte differentiation, cell cycle arrest, DNA methylation, neutrophil mediated immunity, 3837 3708 5848 1928 2770 2733 2141 1952 2231 ENSG00000005486 chr7 75842602 75888926 + RHBDD2 protein_coding The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]. 57414 GO:0048471, GO:0030176, GO:0005794, GO:0005654, GO:0000839, GO:0000139, perinuclear region of cytoplasm, integral component of endoplasmic reticulum membrane, Golgi apparatus, nucleoplasm, Hrd1p ubiquitin ligase ERAD-L complex, Golgi membrane, GO:1990381, GO:0051787, GO:0004252, ubiquitin-specific protease binding, misfolded protein binding, serine-type endopeptidase activity, GO:0030968, GO:0030433, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, 444 469 497 236 368 219 237 259 178 ENSG00000005513 chr16 981808 986979 + SOX8 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]. 30812 GO:0005737, GO:0005667, GO:0005634, GO:0005634, GO:0005634, GO:0000785, cytoplasm, transcription regulator complex, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0008134, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, transcription factor binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090190, GO:0090184, GO:0072289, GO:0072197, GO:0072034, GO:0061138, GO:0060612, GO:0060221, GO:0060041, GO:0060018, GO:0060009, GO:0048709, GO:0048484, GO:0048484, GO:0048469, GO:0046533, GO:0045944, GO:0045893, GO:0045892, GO:0045662, GO:0045444, GO:0045165, GO:0043066, GO:0035914, GO:0033690, GO:0014032, GO:0014015, GO:0010817, GO:0008584, GO:0007422, GO:0007422, GO:0007283, GO:0007165, GO:0006357, GO:0002009, GO:0001755, GO:0001701, GO:0001649, GO:0000122, positive regulation of branching involved in ureteric bud morphogenesis, positive regulation of kidney development, metanephric nephron tubule formation, ureter morphogenesis, renal vesicle induction, morphogenesis of a branching epithelium, adipose tissue development, retinal rod cell differentiation, retina development in camera-type eye, astrocyte fate commitment, Sertoli cell development, oligodendrocyte differentiation, enteric nervous system development, enteric nervous system development, cell maturation, negative regulation of photoreceptor cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of myoblast differentiation, fat cell differentiation, cell fate commitment, negative regulation of apoptotic process, skeletal muscle cell differentiation, positive regulation of osteoblast proliferation, neural crest cell development, positive regulation of gliogenesis, regulation of hormone levels, male gonad development, peripheral nervous system development, peripheral nervous system development, spermatogenesis, signal transduction, regulation of transcription by RNA polymerase II, morphogenesis of an epithelium, neural crest cell migration, in utero embryonic development, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, 5 0 2 6 0 7 6 0 0 ENSG00000005700 chr6 82169983 82247754 - IBTK protein_coding Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. 25998 GO:0016020, GO:0005737, GO:0005654, membrane, cytoplasm, nucleoplasm, GO:0030292, GO:0019901, protein tyrosine kinase inhibitor activity, protein kinase binding, GO:0061099, GO:0051209, GO:0001933, negative regulation of protein tyrosine kinase activity, release of sequestered calcium ion into cytosol, negative regulation of protein phosphorylation, 40 28 96 144 47 141 108 40 94 ENSG00000005801 chr11 3339261 3379222 - ZNF195 protein_coding This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms' tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 7748 GO:0000785, chromatin, GO:0008270, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 28 26 45 78 43 104 65 24 47 ENSG00000005810 chr13 77044655 77327050 - MYCBP2 protein_coding This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]. 23077 GO:0043231, GO:0030424, GO:0016020, GO:0015630, GO:0005737, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, axon, membrane, microtubule cytoskeleton, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0061630, GO:0042802, GO:0031267, GO:0008270, GO:0005515, GO:0005085, ubiquitin protein ligase activity, identical protein binding, small GTPase binding, zinc ion binding, protein binding, guanyl-nucleotide exchange factor activity, GO:1902667, GO:0051493, GO:0050905, GO:0042177, GO:0032922, GO:0032880, GO:0031398, GO:0021952, GO:0021785, GO:0016567, GO:0016567, GO:0016567, regulation of axon guidance, regulation of cytoskeleton organization, neuromuscular process, negative regulation of protein catabolic process, circadian regulation of gene expression, regulation of protein localization, positive regulation of protein ubiquitination, central nervous system projection neuron axonogenesis, branchiomotor neuron axon guidance, protein ubiquitination, protein ubiquitination, protein ubiquitination, 1381 1589 1868 996 863 1119 1107 697 968 ENSG00000005812 chr13 76992598 77027195 - FBXL3 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]. 26224 GO:0019005, GO:0019005, GO:0016604, GO:0005829, GO:0005829, GO:0005829, GO:0005634, GO:0005634, GO:0000151, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, nuclear body, cytosol, cytosol, cytosol, nucleus, nucleus, ubiquitin ligase complex, GO:0005515, GO:0004842, GO:0004842, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0051726, GO:0048511, GO:0043687, GO:0043153, GO:0043153, GO:0042752, GO:0031648, GO:0031146, GO:0031146, GO:0016567, GO:0016567, GO:0000209, GO:0000086, regulation of cell cycle, rhythmic process, post-translational protein modification, entrainment of circadian clock by photoperiod, entrainment of circadian clock by photoperiod, regulation of circadian rhythm, protein destabilization, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, protein polyubiquitination, G2/M transition of mitotic cell cycle, 1110 989 1640 372 573 634 415 441 578 ENSG00000005844 chr16 30472658 30523185 + ITGAL protein_coding ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3683 GO:0070062, GO:0035579, GO:0034687, GO:0016020, GO:0009986, GO:0009986, GO:0008305, GO:0005886, extracellular exosome, specific granule membrane, integrin alphaL-beta2 complex, membrane, cell surface, cell surface, integrin complex, plasma membrane, GO:0050839, GO:0050839, GO:0046872, GO:0044877, GO:0030369, GO:0005515, cell adhesion molecule binding, cell adhesion molecule binding, metal ion binding, protein-containing complex binding, ICAM-3 receptor activity, protein binding, GO:0098609, GO:0050900, GO:0050776, GO:0043312, GO:0043113, GO:0035683, GO:0030198, GO:0016032, GO:0007229, GO:0007165, GO:0007160, GO:0007159, GO:0007157, GO:0007155, GO:0006954, GO:0006909, GO:0002291, cell-cell adhesion, leukocyte migration, regulation of immune response, neutrophil degranulation, receptor clustering, memory T cell extravasation, extracellular matrix organization, viral process, integrin-mediated signaling pathway, signal transduction, cell-matrix adhesion, leukocyte cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, cell adhesion, inflammatory response, phagocytosis, T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, 3123 3788 3903 2980 3674 3837 3165 2772 3108 ENSG00000005882 chr17 50094737 50112152 + PDK2 protein_coding This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 5164 GO:0005967, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005654, mitochondrial pyruvate dehydrogenase complex, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, GO:0042803, GO:0005524, GO:0005515, GO:0004740, GO:0004674, GO:0004672, protein homodimerization activity, ATP binding, protein binding, pyruvate dehydrogenase (acetyl-transferring) kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1904183, GO:0072332, GO:0050848, GO:0042593, GO:0042593, GO:0034614, GO:0031670, GO:0010906, GO:0010565, GO:0010510, GO:0010510, GO:0008286, GO:0006885, GO:0006468, GO:0006111, GO:0006006, negative regulation of pyruvate dehydrogenase activity, intrinsic apoptotic signaling pathway by p53 class mediator, regulation of calcium-mediated signaling, glucose homeostasis, glucose homeostasis, cellular response to reactive oxygen species, cellular response to nutrient, regulation of glucose metabolic process, regulation of cellular ketone metabolic process, regulation of acetyl-CoA biosynthetic process from pyruvate, regulation of acetyl-CoA biosynthetic process from pyruvate, insulin receptor signaling pathway, regulation of pH, protein phosphorylation, regulation of gluconeogenesis, glucose metabolic process, 13 3 14 53 14 49 38 18 43 ENSG00000005884 chr17 50055968 50090481 + ITGA3 protein_coding The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]. 3675 GO:1990812, GO:0097060, GO:0071944, GO:0071438, GO:0070062, GO:0060076, GO:0048471, GO:0043235, GO:0034667, GO:0034667, GO:0031527, GO:0016323, GO:0009986, GO:0009986, GO:0009897, GO:0008305, GO:0005925, GO:0005886, GO:0005886, growth cone filopodium, synaptic membrane, cell periphery, invadopodium membrane, extracellular exosome, excitatory synapse, perinuclear region of cytoplasm, receptor complex, integrin alpha3-beta1 complex, integrin alpha3-beta1 complex, filopodium membrane, basolateral plasma membrane, cell surface, cell surface, external side of plasma membrane, integrin complex, focal adhesion, plasma membrane, plasma membrane, GO:0046982, GO:0046872, GO:0043236, GO:0019904, GO:0005518, GO:0005515, GO:0005178, GO:0002020, GO:0001968, protein heterodimerization activity, metal ion binding, laminin binding, protein domain specific binding, collagen binding, protein binding, integrin binding, protease binding, fibronectin binding, GO:1903078, GO:0097205, GO:0097062, GO:0072006, GO:0060135, GO:0050900, GO:0048333, GO:0043588, GO:0042493, GO:0035640, GO:0035024, GO:0034698, GO:0031345, GO:0030510, GO:0030324, GO:0030198, GO:0030111, GO:0017015, GO:0010976, GO:0010811, GO:0010634, GO:0010628, GO:0007613, GO:0007507, GO:0007229, GO:0007160, GO:0001764, positive regulation of protein localization to plasma membrane, renal filtration, dendritic spine maintenance, nephron development, maternal process involved in female pregnancy, leukocyte migration, mesodermal cell differentiation, skin development, response to drug, exploration behavior, negative regulation of Rho protein signal transduction, response to gonadotropin, negative regulation of cell projection organization, regulation of BMP signaling pathway, lung development, extracellular matrix organization, regulation of Wnt signaling pathway, regulation of transforming growth factor beta receptor signaling pathway, positive regulation of neuron projection development, positive regulation of cell-substrate adhesion, positive regulation of epithelial cell migration, positive regulation of gene expression, memory, heart development, integrin-mediated signaling pathway, cell-matrix adhesion, neuron migration, 10 1 2 13 1 22 2 3 10 ENSG00000005889 chrX 24149173 24216255 + ZFX protein_coding This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]. 7543 GO:0005730, GO:0005694, GO:0005654, nucleolus, chromosome, nucleoplasm, GO:0046872, GO:0043035, metal ion binding, chromatin insulator sequence binding, GO:0006357, regulation of transcription by RNA polymerase II, 1136 1014 1284 578 780 656 617 460 575 ENSG00000005893 chrX 120427827 120469365 - LAMP2 protein_coding The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]. 3920 GO:1990836, GO:0101003, GO:0098857, GO:0097637, GO:0070062, GO:0070062, GO:0045121, GO:0044754, GO:0043202, GO:0035577, GO:0031902, GO:0031902, GO:0031088, GO:0031088, GO:0030670, GO:0016020, GO:0005886, GO:0005886, GO:0005770, GO:0005765, GO:0005765, GO:0005765, GO:0005764, GO:0005615, lysosomal matrix, ficolin-1-rich granule membrane, membrane microdomain, integral component of autophagosome membrane, extracellular exosome, extracellular exosome, membrane raft, autolysosome, lysosomal lumen, azurophil granule membrane, late endosome membrane, late endosome membrane, platelet dense granule membrane, platelet dense granule membrane, phagocytic vesicle membrane, membrane, plasma membrane, plasma membrane, late endosome, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, extracellular space, GO:0019904, GO:0019899, GO:0005515, protein domain specific binding, enzyme binding, protein binding, GO:1905146, GO:0097352, GO:0097352, GO:0072594, GO:0061740, GO:0061740, GO:0061740, GO:0061684, GO:0061684, GO:0050821, GO:0046716, GO:0043312, GO:0031647, GO:0017038, GO:0009267, GO:0009267, GO:0006605, GO:0002576, lysosomal protein catabolic process, autophagosome maturation, autophagosome maturation, establishment of protein localization to organelle, protein targeting to lysosome involved in chaperone-mediated autophagy, protein targeting to lysosome involved in chaperone-mediated autophagy, protein targeting to lysosome involved in chaperone-mediated autophagy, chaperone-mediated autophagy, chaperone-mediated autophagy, protein stabilization, muscle cell cellular homeostasis, neutrophil degranulation, regulation of protein stability, protein import, cellular response to starvation, cellular response to starvation, protein targeting, platelet degranulation, 6933 7521 8955 2857 5030 3490 3587 4188 2962 ENSG00000005961 chr17 44372180 44389505 - ITGA2B protein_coding This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]. 3674 GO:0072562, GO:0070062, GO:0031092, GO:0009986, GO:0009897, GO:0008305, GO:0005925, GO:0005886, GO:0005886, blood microparticle, extracellular exosome, platelet alpha granule membrane, cell surface, external side of plasma membrane, integrin complex, focal adhesion, plasma membrane, plasma membrane, GO:0070051, GO:0050840, GO:0046872, GO:0042802, GO:0005515, fibrinogen binding, extracellular matrix binding, metal ion binding, identical protein binding, protein binding, GO:0070527, GO:0045652, GO:0030198, GO:0007229, GO:0007160, GO:0002687, GO:0002576, platelet aggregation, regulation of megakaryocyte differentiation, extracellular matrix organization, integrin-mediated signaling pathway, cell-matrix adhesion, positive regulation of leukocyte migration, platelet degranulation, 7 7 7 12 16 5 13 2 13 ENSG00000005981 chr7 95478444 95540232 + ASB4 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]. 51666 GO:0031466, GO:0031462, GO:0005829, Cul5-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, cytosol, GO:0061630, GO:0031625, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase binding, ubiquitin-protein transferase activity, GO:2001214, GO:0051865, GO:0043687, GO:0035556, positive regulation of vasculogenesis, protein autoubiquitination, post-translational protein modification, intracellular signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000006007 chr16 19501689 19522145 - GDE1 protein_coding 51573 GO:0030659, GO:0016021, GO:0005886, GO:0005886, cytoplasmic vesicle membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0047395, GO:0047395, GO:0046872, GO:0008889, GO:0008889, GO:0005515, GO:0004622, glycerophosphoinositol glycerophosphodiesterase activity, glycerophosphoinositol glycerophosphodiesterase activity, metal ion binding, glycerophosphodiester phosphodiesterase activity, glycerophosphodiester phosphodiesterase activity, protein binding, lysophospholipase activity, GO:0070291, GO:0046475, GO:0006644, GO:0006629, GO:0006580, N-acylethanolamine metabolic process, glycerophospholipid catabolic process, phospholipid metabolic process, lipid metabolic process, ethanolamine metabolic process, 476 654 543 136 384 167 157 378 212 ENSG00000006015 chr19 18588685 18592336 + REX1BD protein_coding 55049 GO:0005515, protein binding, 132 118 127 109 110 133 116 93 146 ENSG00000006016 chr19 18572220 18607741 - CRLF1 protein_coding This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]. 9244 GO:0097058, GO:0097058, GO:0043235, GO:0009897, GO:0005829, GO:0005615, GO:0005576, CRLF-CLCF1 complex, CRLF-CLCF1 complex, receptor complex, external side of plasma membrane, cytosol, extracellular space, extracellular region, GO:0019955, GO:0019955, GO:0005515, GO:0005127, GO:0005125, GO:0004896, cytokine binding, cytokine binding, protein binding, ciliary neurotrophic factor receptor binding, cytokine activity, cytokine receptor activity, GO:2000672, GO:0070106, GO:0043524, GO:0042531, GO:0042531, GO:0019221, GO:0019221, GO:0008284, GO:0001657, negative regulation of motor neuron apoptotic process, interleukin-27-mediated signaling pathway, negative regulation of neuron apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, ureteric bud development, 60 51 86 321 374 272 332 348 235 ENSG00000006025 chr17 47807372 47821834 - OSBPL7 protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]. 114881 GO:0097038, GO:0097038, GO:0043231, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005789, GO:0005776, perinuclear endoplasmic reticulum, perinuclear endoplasmic reticulum, intracellular membrane-bounded organelle, membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, endoplasmic reticulum membrane, autophagosome, GO:0032934, GO:0015485, GO:0015485, GO:0015248, GO:0005515, sterol binding, cholesterol binding, cholesterol binding, sterol transporter activity, protein binding, GO:1901800, GO:0071397, GO:0015918, GO:0010506, GO:0006699, positive regulation of proteasomal protein catabolic process, cellular response to cholesterol, sterol transport, regulation of autophagy, bile acid biosynthetic process, 35 30 77 52 26 85 48 15 85 ENSG00000006042 chr17 32927910 32945106 + TMEM98 protein_coding This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]. 26022 GO:0070062, GO:0016021, GO:0005886, GO:0005789, GO:0005783, GO:0005783, GO:0005615, extracellular exosome, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, extracellular space, GO:0005515, protein binding, GO:1900181, GO:0048715, GO:0045063, GO:0031642, GO:0010955, negative regulation of protein localization to nucleus, negative regulation of oligodendrocyte differentiation, T-helper 1 cell differentiation, negative regulation of myelination, negative regulation of protein processing, 0 0 0 0 0 0 0 0 0 ENSG00000006047 chr17 7288252 7294615 - YBX2 protein_coding This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012]. 51087 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0003723, GO:0003677, GO:0003676, RNA binding, DNA binding, nucleic acid binding, GO:0120162, GO:0048599, GO:0010468, GO:0009386, GO:0007283, GO:0006366, positive regulation of cold-induced thermogenesis, oocyte development, regulation of gene expression, translational attenuation, spermatogenesis, transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000006059 chr17 41346092 41350812 - KRT33A protein_coding This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]. 3883 GO:0005882, GO:0005829, GO:0005615, intermediate filament, cytosol, extracellular space, GO:0005198, structural molecule activity, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000006062 chr17 45263119 45317145 - MAP3K14 protein_coding This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]. 9020 GO:0043231, GO:0005829, GO:0005829, GO:0005654, GO:0001650, intracellular membrane-bounded organelle, cytosol, cytosol, nucleoplasm, fibrillar center, GO:0016301, GO:0005524, GO:0005515, GO:0004709, GO:0004704, GO:0004674, GO:0004672, kinase activity, ATP binding, protein binding, MAP kinase kinase kinase activity, NF-kappaB-inducing kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0071260, GO:0051607, GO:0043123, GO:0043123, GO:0038061, GO:0033209, GO:0007249, GO:0006955, GO:0000186, GO:0000165, cellular response to mechanical stimulus, defense response to virus, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, I-kappaB kinase/NF-kappaB signaling, immune response, activation of MAPKK activity, MAPK cascade, 202 321 305 336 604 544 402 462 411 ENSG00000006071 chr11 17392498 17476879 - ABCC8 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]. 6833 GO:0031004, GO:0016020, GO:0008282, GO:0005886, potassium ion-transporting ATPase complex, membrane, inward rectifying potassium channel, plasma membrane, GO:0044325, GO:0042626, GO:0019829, GO:0016887, GO:0015272, GO:0008281, GO:0005524, GO:0005267, ion channel binding, ATPase-coupled transmembrane transporter activity, ATPase-coupled cation transmembrane transporter activity, ATPase activity, ATP-activated inward rectifier potassium channel activity, sulfonylurea receptor activity, ATP binding, potassium channel activity, GO:0098662, GO:0071805, GO:0055085, GO:0050796, GO:0006813, inorganic cation transmembrane transport, potassium ion transmembrane transport, transmembrane transport, regulation of insulin secretion, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000006116 chr16 24255553 24362801 + CACNG3 protein_coding The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]. 10368 GO:0099061, GO:0098978, GO:0098839, GO:0098685, GO:0060076, GO:0036477, GO:0032281, GO:0032281, GO:0030666, GO:0030425, GO:0005891, GO:0005886, integral component of postsynaptic density membrane, glutamatergic synapse, postsynaptic density membrane, Schaffer collateral - CA1 synapse, excitatory synapse, somatodendritic compartment, AMPA glutamate receptor complex, AMPA glutamate receptor complex, endocytic vesicle membrane, dendrite, voltage-gated calcium channel complex, plasma membrane, GO:0035255, GO:0030165, GO:0016247, GO:0005245, GO:0005245, ionotropic glutamate receptor binding, PDZ domain binding, channel regulator activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:2000969, GO:2000311, GO:2000311, GO:0099590, GO:0098970, GO:0098943, GO:0070588, GO:0061337, GO:0051968, GO:0019226, GO:0008104, GO:0006816, GO:0006605, positive regulation of AMPA receptor activity, regulation of AMPA receptor activity, regulation of AMPA receptor activity, neurotransmitter receptor internalization, postsynaptic neurotransmitter receptor diffusion trapping, neurotransmitter receptor transport, postsynaptic endosome to lysosome, calcium ion transmembrane transport, cardiac conduction, positive regulation of synaptic transmission, glutamatergic, transmission of nerve impulse, protein localization, calcium ion transport, protein targeting, 0 0 0 0 0 0 0 0 0 ENSG00000006118 chr11 60924463 60937159 + TMEM132A protein_coding This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 54972 GO:0070062, GO:0016021, GO:0005794, GO:0005789, GO:0005788, GO:0005783, GO:0000139, extracellular exosome, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, Golgi membrane, GO:0003674, molecular_function, GO:0044267, GO:0043687, GO:0008150, cellular protein metabolic process, post-translational protein modification, biological_process, 15 18 20 78 61 101 84 44 87 ENSG00000006125 chr17 35578046 35726409 + AP2B1 protein_coding The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 163 GO:0045334, GO:0036020, GO:0030669, GO:0030666, GO:0030131, GO:0030122, GO:0030122, GO:0030122, GO:0016020, GO:0005886, GO:0005829, clathrin-coated endocytic vesicle, endolysosome membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, clathrin adaptor complex, AP-2 adaptor complex, AP-2 adaptor complex, AP-2 adaptor complex, membrane, plasma membrane, cytosol, GO:0044877, GO:0035615, GO:0030276, GO:0030276, GO:0030276, GO:0030276, GO:0005515, GO:0005048, protein-containing complex binding, clathrin adaptor activity, clathrin binding, clathrin binding, clathrin binding, clathrin binding, protein binding, signal sequence binding, GO:1905477, GO:1901215, GO:0099590, GO:0072583, GO:0072583, GO:0061024, GO:0060976, GO:0060071, GO:0050690, GO:0048268, GO:0048013, GO:0045807, GO:0035904, GO:0034383, GO:0032802, GO:0019886, GO:0016192, GO:0006886, GO:0003281, GO:0001822, positive regulation of protein localization to membrane, negative regulation of neuron death, neurotransmitter receptor internalization, clathrin-dependent endocytosis, clathrin-dependent endocytosis, membrane organization, coronary vasculature development, Wnt signaling pathway, planar cell polarity pathway, regulation of defense response to virus by virus, clathrin coat assembly, ephrin receptor signaling pathway, positive regulation of endocytosis, aorta development, low-density lipoprotein particle clearance, low-density lipoprotein particle receptor catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, intracellular protein transport, ventricular septum development, kidney development, 927 932 1298 696 690 978 752 611 772 ENSG00000006128 chr7 97731908 97740472 + TAC1 protein_coding This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]. 6863 GO:0045202, GO:0043025, GO:0030424, GO:0005886, GO:0005615, GO:0005576, synapse, neuronal cell body, axon, plasma membrane, extracellular space, extracellular region, GO:0031835, substance P receptor binding, GO:2000854, GO:1990090, GO:0051496, GO:0050671, GO:0048265, GO:0046878, GO:0045778, GO:0045760, GO:0043278, GO:0035815, GO:0032496, GO:0032230, GO:0032224, GO:0019233, GO:0010634, GO:0010459, GO:0009725, GO:0009582, GO:0008306, GO:0008217, GO:0007616, GO:0007320, GO:0007268, GO:0007267, GO:0007218, GO:0007217, GO:0007204, GO:0007204, GO:0007186, GO:0006954, GO:0002675, positive regulation of corticosterone secretion, cellular response to nerve growth factor stimulus, positive regulation of stress fiber assembly, positive regulation of lymphocyte proliferation, response to pain, positive regulation of saliva secretion, positive regulation of ossification, positive regulation of action potential, response to morphine, positive regulation of renal sodium excretion, response to lipopolysaccharide, positive regulation of synaptic transmission, GABAergic, positive regulation of synaptic transmission, cholinergic, sensory perception of pain, positive regulation of epithelial cell migration, negative regulation of heart rate, response to hormone, detection of abiotic stimulus, associative learning, regulation of blood pressure, long-term memory, insemination, chemical synaptic transmission, cell-cell signaling, neuropeptide signaling pathway, tachykinin receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, inflammatory response, positive regulation of acute inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000006194 chr16 3263800 3301401 + ZNF263 protein_coding 10127 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, GO:0000122, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 506 511 455 2941 2857 2066 2292 1707 1001 ENSG00000006210 chr16 57372458 57385048 + CX3CL1 protein_coding This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]. 6376 GO:0048471, GO:0043025, GO:0043005, GO:0042995, GO:0016021, GO:0016020, GO:0016020, GO:0009986, GO:0005886, GO:0005615, GO:0005576, GO:0005576, GO:0005576, GO:0005576, perinuclear region of cytoplasm, neuronal cell body, neuron projection, cell projection, integral component of membrane, membrane, membrane, cell surface, plasma membrane, extracellular space, extracellular region, extracellular region, extracellular region, extracellular region, GO:0048020, GO:0045237, GO:0042056, GO:0031737, GO:0031737, GO:0031737, GO:0008009, GO:0008009, GO:0008009, GO:0008009, GO:0005515, GO:0005178, GO:0005102, CCR chemokine receptor binding, CXCR1 chemokine receptor binding, chemoattractant activity, CX3C chemokine receptor binding, CX3C chemokine receptor binding, CX3C chemokine receptor binding, chemokine activity, chemokine activity, chemokine activity, chemokine activity, protein binding, integrin binding, signaling receptor binding, GO:2001240, GO:2001234, GO:2001223, GO:1904141, GO:1903979, GO:1903721, GO:1900450, GO:0110091, GO:0098883, GO:0098609, GO:0098609, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070374, GO:0070098, GO:0070098, GO:0070050, GO:0061518, GO:0060326, GO:0060055, GO:0051897, GO:0051897, GO:0051281, GO:0051092, GO:0051041, GO:0050918, GO:0050902, GO:0050767, GO:0050729, GO:0048661, GO:0048247, GO:0048246, GO:0048245, GO:0048167, GO:0045944, GO:0045766, GO:0043547, GO:0043410, GO:0043123, GO:0043066, GO:0035425, GO:0033622, GO:0032914, GO:0032720, GO:0032720, GO:0032715, GO:0032691, GO:0032690, GO:0032233, GO:0031664, GO:0030595, GO:0030593, GO:0030336, GO:0019221, GO:0016322, GO:0010976, GO:0010812, GO:0008284, GO:0007568, GO:0007267, GO:0007186, GO:0007186, GO:0007186, GO:0007155, GO:0006955, GO:0006954, GO:0006952, GO:0006935, GO:0006935, GO:0002931, GO:0002548, GO:0002523, GO:0002052, GO:0001954, GO:0001774, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of apoptotic signaling pathway, negative regulation of neuron migration, positive regulation of microglial cell migration, negative regulation of microglial cell activation, positive regulation of I-kappaB phosphorylation, negative regulation of glutamate receptor signaling pathway, negative regulation of hippocampal neuron apoptotic process, synapse pruning, cell-cell adhesion, cell-cell adhesion, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, neuron cellular homeostasis, microglial cell proliferation, cell chemotaxis, angiogenesis involved in wound healing, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of NF-kappaB transcription factor activity, positive regulation of calcium-independent cell-cell adhesion, positive chemotaxis, leukocyte adhesive activation, regulation of neurogenesis, positive regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, lymphocyte chemotaxis, macrophage chemotaxis, eosinophil chemotaxis, regulation of synaptic plasticity, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of GTPase activity, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, autocrine signaling, integrin activation, positive regulation of transforming growth factor beta1 production, negative regulation of tumor necrosis factor production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, negative regulation of interleukin-1 alpha production, positive regulation of actin filament bundle assembly, regulation of lipopolysaccharide-mediated signaling pathway, leukocyte chemotaxis, neutrophil chemotaxis, negative regulation of cell migration, cytokine-mediated signaling pathway, neuron remodeling, positive regulation of neuron projection development, negative regulation of cell-substrate adhesion, positive regulation of cell population proliferation, aging, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell adhesion, immune response, inflammatory response, defense response, chemotaxis, chemotaxis, response to ischemia, monocyte chemotaxis, leukocyte migration involved in inflammatory response, positive regulation of neuroblast proliferation, positive regulation of cell-matrix adhesion, microglial cell activation, 0 0 0 0 0 0 0 0 0 ENSG00000006282 chr17 50543058 50555852 + SPATA20 protein_coding 64847 GO:0005576, extracellular region, GO:0030154, GO:0007283, GO:0007275, GO:0005975, cell differentiation, spermatogenesis, multicellular organism development, carbohydrate metabolic process, 7 11 15 33 22 30 43 23 41 ENSG00000006283 chr17 50561068 50627474 + CACNA1G protein_coding Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]. 8913 GO:0045202, GO:0043005, GO:0005891, GO:0005886, GO:0005737, GO:0001518, synapse, neuron projection, voltage-gated calcium channel complex, plasma membrane, cytoplasm, voltage-gated sodium channel complex, GO:0097110, GO:0086059, GO:0086056, GO:0008332, GO:0008332, GO:0005248, scaffold protein binding, voltage-gated calcium channel activity involved SA node cell action potential, voltage-gated calcium channel activity involved in AV node cell action potential, low voltage-gated calcium channel activity, low voltage-gated calcium channel activity, voltage-gated sodium channel activity, GO:0086091, GO:0086046, GO:0086045, GO:0086027, GO:0086018, GO:0086016, GO:0086015, GO:0086010, GO:0086002, GO:0070588, GO:0070509, GO:0070509, GO:0060371, GO:0045956, GO:0042391, GO:0035725, GO:0034765, GO:0019228, GO:0010045, GO:0007268, regulation of heart rate by cardiac conduction, membrane depolarization during SA node cell action potential, membrane depolarization during AV node cell action potential, AV node cell to bundle of His cell signaling, SA node cell to atrial cardiac muscle cell signaling, AV node cell action potential, SA node cell action potential, membrane depolarization during action potential, cardiac muscle cell action potential involved in contraction, calcium ion transmembrane transport, calcium ion import, calcium ion import, regulation of atrial cardiac muscle cell membrane depolarization, positive regulation of calcium ion-dependent exocytosis, regulation of membrane potential, sodium ion transmembrane transport, regulation of ion transmembrane transport, neuronal action potential, response to nickel cation, chemical synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000006327 chr16 3018445 3022383 + TNFRSF12A protein_coding 51330 GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0001726, integral component of membrane, cell surface, plasma membrane, plasma membrane, ruffle, GO:0005515, protein binding, GO:2001238, GO:2001238, GO:0097191, GO:0061041, GO:0045773, GO:0045765, GO:0043065, GO:0033209, GO:0006931, GO:0001525, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, regulation of wound healing, positive regulation of axon extension, regulation of angiogenesis, positive regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, substrate-dependent cell migration, cell attachment to substrate, angiogenesis, 201 158 208 39 54 24 26 64 43 ENSG00000006377 chr7 97005548 97011039 + DLX6 protein_coding This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]. 1750 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060322, GO:0060021, GO:0050679, GO:0048646, GO:0042472, GO:0030855, GO:0030326, GO:0030154, GO:0009790, GO:0007399, GO:0006357, GO:0001501, head development, roof of mouth development, positive regulation of epithelial cell proliferation, anatomical structure formation involved in morphogenesis, inner ear morphogenesis, epithelial cell differentiation, embryonic limb morphogenesis, cell differentiation, embryo development, nervous system development, regulation of transcription by RNA polymerase II, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000006432 chr14 70722526 70809534 - MAP3K9 protein_coding 4293 GO:0005575, cellular_component, GO:0042803, GO:0005524, GO:0005515, GO:0004708, GO:0004706, GO:0004706, GO:0004674, GO:0004672, protein homodimerization activity, ATP binding, protein binding, MAP kinase kinase activity, JUN kinase kinase kinase activity, JUN kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0046777, GO:0043065, GO:0007257, GO:0007257, GO:0007256, GO:0006915, GO:0006468, protein autophosphorylation, positive regulation of apoptotic process, activation of JUN kinase activity, activation of JUN kinase activity, activation of JNKK activity, apoptotic process, protein phosphorylation, 14 17 34 22 8 10 28 10 8 ENSG00000006451 chr7 39623483 39708124 + RALA protein_coding The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008]. 5898 GO:0090543, GO:0070062, GO:0032154, GO:0030659, GO:0030139, GO:0009986, GO:0005925, GO:0005925, GO:0005886, GO:0005886, Flemming body, extracellular exosome, cleavage furrow, cytoplasmic vesicle membrane, endocytic vesicle, cell surface, focal adhesion, focal adhesion, plasma membrane, plasma membrane, GO:0051117, GO:0031755, GO:0031625, GO:0019003, GO:0019003, GO:0017022, GO:0005525, GO:0005525, GO:0005515, GO:0003924, ATPase binding, Edg-2 lysophosphatidic acid receptor binding, ubiquitin protein ligase binding, GDP binding, GDP binding, myosin binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:0061024, GO:0051665, GO:0051491, GO:0051301, GO:0035722, GO:0031532, GO:0017157, GO:0017157, GO:0007265, GO:0007165, GO:0007049, GO:0006935, GO:0006887, GO:0001843, membrane organization, membrane raft localization, positive regulation of filopodium assembly, cell division, interleukin-12-mediated signaling pathway, actin cytoskeleton reorganization, regulation of exocytosis, regulation of exocytosis, Ras protein signal transduction, signal transduction, cell cycle, chemotaxis, exocytosis, neural tube closure, 60 61 86 74 81 107 86 63 73 ENSG00000006453 chr7 98291651 98401068 - BAIAP2L1 protein_coding This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]. 55971 GO:0070062, GO:0015629, GO:0005912, GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0005654, extracellular exosome, actin cytoskeleton, adherens junction, plasma membrane, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0098641, GO:0070064, GO:0005515, GO:0003779, cadherin binding involved in cell-cell adhesion, proline-rich region binding, protein binding, actin binding, GO:2000251, GO:2000251, GO:0098609, GO:0051764, GO:0051017, GO:0046626, GO:0030838, GO:0030838, GO:0009617, GO:0007009, positive regulation of actin cytoskeleton reorganization, positive regulation of actin cytoskeleton reorganization, cell-cell adhesion, actin crosslink formation, actin filament bundle assembly, regulation of insulin receptor signaling pathway, positive regulation of actin filament polymerization, positive regulation of actin filament polymerization, response to bacterium, plasma membrane organization, 80 89 39 102 151 277 119 122 169 ENSG00000006459 chr7 140084746 140177035 - KDM7A protein_coding 80853 GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0071558, GO:0051864, GO:0035575, GO:0035064, GO:0032454, GO:0032452, GO:0016706, GO:0008270, GO:0005506, GO:0005506, GO:0003712, histone demethylase activity (H3-K27 specific), histone demethylase activity (H3-K36 specific), histone demethylase activity (H4-K20 specific), methylated histone binding, histone demethylase activity (H3-K9 specific), histone demethylase activity, 2-oxoglutarate-dependent dioxygenase activity, zinc ion binding, iron ion binding, iron ion binding, transcription coregulator activity, GO:0071557, GO:0070544, GO:0055114, GO:0045893, GO:0035574, GO:0033169, GO:0030901, GO:0006482, GO:0006357, histone H3-K27 demethylation, histone H3-K36 demethylation, oxidation-reduction process, positive regulation of transcription, DNA-templated, histone H4-K20 demethylation, histone H3-K9 demethylation, midbrain development, protein demethylation, regulation of transcription by RNA polymerase II, 2226 2861 2649 1630 3463 2881 2196 2307 2375 ENSG00000006468 chr7 13891228 13991425 - ETV1 protein_coding This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]. 2115 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048935, GO:0045944, GO:0030154, GO:0007638, GO:0007517, GO:0007411, GO:0006366, GO:0006357, peripheral nervous system neuron development, positive regulation of transcription by RNA polymerase II, cell differentiation, mechanosensory behavior, muscle organ development, axon guidance, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 1 0 0 0 1 2 0 0 0 ENSG00000006530 chr7 141551189 141655244 + AGK protein_coding The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]. 55750 GO:0043231, GO:0043231, GO:0042721, GO:0031966, GO:0031305, GO:0016020, GO:0005829, GO:0005758, GO:0005743, GO:0005741, GO:0005739, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, TIM22 mitochondrial import inner membrane insertion complex, mitochondrial membrane, integral component of mitochondrial inner membrane, membrane, cytosol, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, cytoplasm, GO:0102773, GO:0047620, GO:0017050, GO:0005524, GO:0005515, GO:0004143, GO:0003951, GO:0001729, GO:0001727, dihydroceramide kinase activity, acylglycerol kinase activity, D-erythro-sphingosine kinase activity, ATP binding, protein binding, diacylglycerol kinase activity, NAD+ kinase activity, ceramide kinase activity, lipid kinase activity, GO:0046834, GO:0046513, GO:0046512, GO:0046474, GO:0045039, GO:0016310, GO:0006665, lipid phosphorylation, ceramide biosynthetic process, sphingosine biosynthetic process, glycerophospholipid biosynthetic process, protein insertion into mitochondrial inner membrane, phosphorylation, sphingolipid metabolic process, 6 10 17 14 11 44 16 11 13 ENSG00000006534 chr11 68008578 68029282 + ALDH3B1 protein_coding This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 221 GO:0070062, GO:0035579, GO:0031982, GO:0030667, GO:0005886, GO:0005829, GO:0005737, extracellular exosome, specific granule membrane, vesicle, secretory granule membrane, plasma membrane, cytosol, cytoplasm, GO:0018479, GO:0018477, GO:0005515, GO:0004030, GO:0004030, GO:0004028, benzaldehyde dehydrogenase (NAD+) activity, benzaldehyde dehydrogenase (NADP+) activity, protein binding, aldehyde dehydrogenase [NAD(P)+] activity, aldehyde dehydrogenase [NAD(P)+] activity, 3-chloroallyl aldehyde dehydrogenase activity, GO:0055114, GO:0046185, GO:0043312, GO:0034599, GO:0030148, GO:0006629, GO:0006068, GO:0006066, oxidation-reduction process, aldehyde catabolic process, neutrophil degranulation, cellular response to oxidative stress, sphingolipid biosynthetic process, lipid metabolic process, ethanol catabolic process, alcohol metabolic process, 208 210 292 90 227 197 106 217 172 ENSG00000006555 chr1 54779712 54801267 - TTC22 protein_coding This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]. 55001 27 58 38 36 42 66 55 31 44 ENSG00000006576 chr7 77798792 77957503 + PHTF2 protein_coding 57157 GO:0005783, GO:0005634, endoplasmic reticulum, nucleus, GO:0003677, DNA binding, 189 164 207 200 176 194 195 146 142 ENSG00000006606 chr7 75769533 75789896 - CCL26 protein_coding This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2020]. 10344 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0048020, GO:0048018, GO:0031728, GO:0008009, GO:0008009, GO:0005515, CCR chemokine receptor binding, receptor ligand activity, CCR3 chemokine receptor binding, chemokine activity, chemokine activity, protein binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0070098, GO:0050921, GO:0048247, GO:0048245, GO:0043547, GO:0043547, GO:0030838, GO:0030593, GO:0030335, GO:0010818, GO:0007267, GO:0007186, GO:0007165, GO:0006954, GO:0006935, GO:0002548, GO:0002548, GO:0001938, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, positive regulation of chemotaxis, lymphocyte chemotaxis, eosinophil chemotaxis, positive regulation of GTPase activity, positive regulation of GTPase activity, positive regulation of actin filament polymerization, neutrophil chemotaxis, positive regulation of cell migration, T cell chemotaxis, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, monocyte chemotaxis, monocyte chemotaxis, positive regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000006607 chr2 241356243 241494841 + FARP2 protein_coding 9855 GO:0005856, GO:0005829, GO:0005737, cytoskeleton, cytosol, cytoplasm, GO:0008092, GO:0005085, GO:0005085, GO:0005085, cytoskeletal protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0071800, GO:0071526, GO:0033623, GO:0031532, GO:0030316, GO:0022405, GO:0016601, GO:0016322, GO:0007155, podosome assembly, semaphorin-plexin signaling pathway, regulation of integrin activation, actin cytoskeleton reorganization, osteoclast differentiation, hair cycle process, Rac protein signal transduction, neuron remodeling, cell adhesion, 54 109 105 57 109 81 70 74 47 ENSG00000006611 chr11 17493895 17544416 - USH1C protein_coding This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 10083 GO:0045202, GO:0045177, GO:0032426, GO:0032420, GO:0032420, GO:0032391, GO:0005903, GO:0005902, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0002142, GO:0001917, GO:0001917, GO:0001750, synapse, apical part of cell, stereocilium tip, stereocilium, stereocilium, photoreceptor connecting cilium, brush border, microvillus, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytoplasm, stereocilia ankle link complex, photoreceptor inner segment, photoreceptor inner segment, photoreceptor outer segment, GO:0051015, GO:0030507, GO:0005515, actin filament binding, spectrin binding, protein binding, GO:1904970, GO:1904970, GO:1904106, GO:1904106, GO:0060122, GO:0060122, GO:0051017, GO:0050957, GO:0050953, GO:0046549, GO:0045494, GO:0042491, GO:0042491, GO:0042472, GO:0042472, GO:0034622, GO:0032532, GO:0030046, GO:0007605, GO:0007605, GO:0000086, brush border assembly, brush border assembly, protein localization to microvillus, protein localization to microvillus, inner ear receptor cell stereocilium organization, inner ear receptor cell stereocilium organization, actin filament bundle assembly, equilibrioception, sensory perception of light stimulus, retinal cone cell development, photoreceptor cell maintenance, inner ear auditory receptor cell differentiation, inner ear auditory receptor cell differentiation, inner ear morphogenesis, inner ear morphogenesis, cellular protein-containing complex assembly, regulation of microvillus length, parallel actin filament bundle assembly, sensory perception of sound, sensory perception of sound, G2/M transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000006625 chr7 30496621 30504844 - GGCT protein_coding The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 79017 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0042803, GO:0003839, GO:0003839, protein homodimerization activity, gamma-glutamylcyclotransferase activity, gamma-glutamylcyclotransferase activity, GO:0006750, GO:0001836, glutathione biosynthetic process, release of cytochrome c from mitochondria, 5 8 1 23 8 15 12 8 23 ENSG00000006634 chr7 87876216 87909541 + DBF4 protein_coding 10926 GO:0031431, GO:0016604, GO:0005654, GO:0005654, GO:0005634, Dbf4-dependent protein kinase complex, nuclear body, nucleoplasm, nucleoplasm, nucleus, GO:0043539, GO:0008270, GO:0008047, GO:0005515, GO:0003676, protein serine/threonine kinase activator activity, zinc ion binding, enzyme activator activity, protein binding, nucleic acid binding, GO:1901987, GO:0071902, GO:0010571, GO:0006260, GO:0000082, regulation of cell cycle phase transition, positive regulation of protein serine/threonine kinase activity, positive regulation of nuclear cell cycle DNA replication, DNA replication, G1/S transition of mitotic cell cycle, 72 52 135 271 101 211 221 63 134 ENSG00000006638 chr19 3594506 3606840 - TBXA2R protein_coding This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 6915 GO:0016607, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0001669, nuclear speck, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, acrosomal vesicle, GO:0005515, GO:0005085, GO:0004961, protein binding, guanyl-nucleotide exchange factor activity, thromboxane A2 receptor activity, GO:0090051, GO:0071222, GO:0045987, GO:0045907, GO:0045777, GO:0045766, GO:0045471, GO:0042493, GO:0038193, GO:0033574, GO:0030194, GO:0007584, GO:0007204, GO:0007189, GO:0007186, GO:0006954, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to lipopolysaccharide, positive regulation of smooth muscle contraction, positive regulation of vasoconstriction, positive regulation of blood pressure, positive regulation of angiogenesis, response to ethanol, response to drug, thromboxane A2 signaling pathway, response to testosterone, positive regulation of blood coagulation, response to nutrient, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, 0 2 0 0 1 0 4 2 0 ENSG00000006652 chr7 112422968 112481017 + IFRD1 protein_coding This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]. 3475 GO:0005634, nucleus, GO:0007518, GO:0007275, GO:0006357, myoblast fate determination, multicellular organism development, regulation of transcription by RNA polymerase II, 4355 5389 4589 3518 6726 5321 3870 4764 4117 ENSG00000006659 chr19 39704306 39709444 + LGALS14 protein_coding This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 56891 GO:0005654, nucleoplasm, GO:0030246, GO:0005515, carbohydrate binding, protein binding, GO:0070234, GO:0006915, positive regulation of T cell apoptotic process, apoptotic process, 0 0 0 1 0 0 0 0 0 ENSG00000006695 chr17 14069496 14208677 + COX10 protein_coding Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]. 1352 GO:0070069, GO:0016021, GO:0005829, GO:0005743, GO:0005739, GO:0005739, GO:0005739, GO:0005730, cytochrome complex, integral component of membrane, cytosol, mitochondrial inner membrane, mitochondrion, mitochondrion, mitochondrion, nucleolus, GO:0008495, GO:0004311, GO:0004311, GO:0004129, protoheme IX farnesyltransferase activity, farnesyltranstransferase activity, farnesyltranstransferase activity, cytochrome-c oxidase activity, GO:1902600, GO:0048034, GO:0045333, GO:0045333, GO:0008535, GO:0006784, GO:0006783, GO:0006783, GO:0006123, GO:0000266, proton transmembrane transport, heme O biosynthetic process, cellular respiration, cellular respiration, respiratory chain complex IV assembly, heme A biosynthetic process, heme biosynthetic process, heme biosynthetic process, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial fission, 5 1 2 15 16 24 14 3 19 ENSG00000006704 chr7 74453790 74602604 + GTF2IRD1 protein_coding The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]. 9569 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003700, GO:0003700, GO:0001227, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0014886, GO:0007275, GO:0006366, GO:0006355, GO:0000122, transition between slow and fast fiber, multicellular organism development, transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 3 0 0 ENSG00000006712 chr19 39385852 39391195 - PAF1 protein_coding This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 54623 GO:0035327, GO:0030054, GO:0016593, GO:0016593, GO:0016020, GO:0005737, GO:0005654, GO:0005654, transcriptionally active chromatin, cell junction, Cdc73/Paf1 complex, Cdc73/Paf1 complex, membrane, cytoplasm, nucleoplasm, nucleoplasm, GO:0005515, GO:0003682, GO:0000993, GO:0000993, protein binding, chromatin binding, RNA polymerase II complex binding, RNA polymerase II complex binding, GO:1902808, GO:0071222, GO:0045638, GO:0034504, GO:0033523, GO:0031442, GO:0031062, GO:0019827, GO:0016584, GO:0016567, GO:0016055, GO:0010390, GO:0006378, GO:0006368, GO:0006368, GO:0006366, GO:0001711, GO:0000122, positive regulation of cell cycle G1/S phase transition, cellular response to lipopolysaccharide, negative regulation of myeloid cell differentiation, protein localization to nucleus, histone H2B ubiquitination, positive regulation of mRNA 3'-end processing, positive regulation of histone methylation, stem cell population maintenance, nucleosome positioning, protein ubiquitination, Wnt signaling pathway, histone monoubiquitination, mRNA polyadenylation, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, endodermal cell fate commitment, negative regulation of transcription by RNA polymerase II, 1710 1850 2216 2369 2776 2457 2189 1719 2036 ENSG00000006715 chr7 38722963 38932394 - VPS41 protein_coding Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]. 27072 GO:0071439, GO:0031902, GO:0030897, GO:0030897, GO:0030136, GO:0030123, GO:0015630, GO:0010008, GO:0005798, GO:0005794, GO:0005770, GO:0005769, GO:0005765, GO:0005765, clathrin complex, late endosome membrane, HOPS complex, HOPS complex, clathrin-coated vesicle, AP-3 adaptor complex, microtubule cytoskeleton, endosome membrane, Golgi-associated vesicle, Golgi apparatus, late endosome, early endosome, lysosomal membrane, lysosomal membrane, GO:0046872, GO:0043621, GO:0042802, GO:0031267, GO:0008017, GO:0005515, metal ion binding, protein self-association, identical protein binding, small GTPase binding, microtubule binding, protein binding, GO:1902774, GO:0045055, GO:0034058, GO:0034058, GO:0016236, GO:0009267, GO:0008333, GO:0006623, late endosome to lysosome transport, regulated exocytosis, endosomal vesicle fusion, endosomal vesicle fusion, macroautophagy, cellular response to starvation, endosome to lysosome transport, protein targeting to vacuole, 999 1173 1195 571 1006 818 725 787 693 ENSG00000006740 chr17 12789539 12991643 + ARHGAP44 protein_coding 9912 GO:0098978, GO:0055037, GO:0048786, GO:0043197, GO:0031256, GO:0031256, GO:0030425, GO:0014069, GO:0005829, GO:0005622, glutamatergic synapse, recycling endosome, presynaptic active zone, dendritic spine, leading edge membrane, leading edge membrane, dendrite, postsynaptic density, cytosol, intracellular anatomical structure, GO:0031267, GO:0005543, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, phospholipid binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0099152, GO:0098887, GO:0098886, GO:0061001, GO:0051490, GO:0051056, GO:0043547, GO:0043087, GO:0035021, GO:0035020, GO:0032956, GO:0007165, GO:0006887, regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane, neurotransmitter receptor transport, endosome to postsynaptic membrane, modification of dendritic spine, regulation of dendritic spine morphogenesis, negative regulation of filopodium assembly, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of GTPase activity, negative regulation of Rac protein signal transduction, regulation of Rac protein signal transduction, regulation of actin cytoskeleton organization, signal transduction, exocytosis, 1 1 0 6 2 0 2 2 0 ENSG00000006744 chr17 12992391 13018187 - ELAC2 protein_coding The protein encoded by this gene has a C-terminal domain with tRNA 3' processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 60528 GO:0042645, GO:0005759, GO:0005739, GO:0005739, GO:0005654, GO:0005654, GO:0005634, mitochondrial nucleoid, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0042781, GO:0004549, GO:0003723, metal ion binding, 3'-tRNA processing endoribonuclease activity, tRNA-specific ribonuclease activity, RNA binding, GO:0090646, GO:0072684, GO:0072684, GO:0042780, mitochondrial tRNA processing, mitochondrial tRNA 3'-trailer cleavage, endonucleolytic, mitochondrial tRNA 3'-trailer cleavage, endonucleolytic, tRNA 3'-end processing, 40 32 63 97 53 90 49 41 81 ENSG00000006747 chr7 12570577 12660179 + SCIN protein_coding SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]. 85477 GO:0070062, GO:0042995, GO:0032991, GO:0030054, GO:0015629, GO:0005938, GO:0005903, GO:0005886, GO:0005737, GO:0005737, GO:0002102, extracellular exosome, cell projection, protein-containing complex, cell junction, actin cytoskeleton, cell cortex, brush border, plasma membrane, cytoplasm, cytoplasm, podosome, GO:0051015, GO:0051015, GO:0005546, GO:0005546, GO:0005545, GO:0005509, GO:0005509, GO:0003779, GO:0003779, GO:0001786, actin filament binding, actin filament binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, 1-phosphatidylinositol binding, calcium ion binding, calcium ion binding, actin binding, actin binding, phosphatidylserine binding, GO:0051693, GO:0051127, GO:0051047, GO:0051016, GO:0051014, GO:0051014, GO:0045654, GO:0045010, GO:0043065, GO:0042989, GO:0032330, GO:0030031, GO:0017156, GO:0008285, GO:0008154, GO:0007417, actin filament capping, positive regulation of actin nucleation, positive regulation of secretion, barbed-end actin filament capping, actin filament severing, actin filament severing, positive regulation of megakaryocyte differentiation, actin nucleation, positive regulation of apoptotic process, sequestering of actin monomers, regulation of chondrocyte differentiation, cell projection assembly, calcium-ion regulated exocytosis, negative regulation of cell population proliferation, actin polymerization or depolymerization, central nervous system development, 0 0 0 0 1 0 0 0 2 ENSG00000006756 chrX 2903970 2929351 - ARSD protein_coding The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]. 414 GO:0005788, GO:0005764, endoplasmic reticulum lumen, lysosome, GO:0046872, GO:0004065, metal ion binding, arylsulfatase activity, 84 73 115 55 56 64 54 60 66 ENSG00000006757 chrX 7898247 7927739 - PNPLA4 protein_coding This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]. 8228 GO:0016020, GO:0005829, GO:0005811, GO:0005739, GO:0005737, membrane, cytosol, lipid droplet, mitochondrion, cytoplasm, GO:0050253, GO:0004806, GO:0004806, retinyl-palmitate esterase activity, triglyceride lipase activity, triglyceride lipase activity, GO:0055088, GO:0042572, GO:0019433, GO:0019433, GO:0008150, lipid homeostasis, retinol metabolic process, triglyceride catabolic process, triglyceride catabolic process, biological_process, 1 0 8 14 2 9 6 12 7 ENSG00000006788 chr17 10300865 10373130 - MYH13 protein_coding 8735 GO:0070062, GO:0032982, GO:0030016, GO:0005859, extracellular exosome, myosin filament, myofibril, muscle myosin complex, GO:0051015, GO:0005524, GO:0005516, GO:0000146, actin filament binding, ATP binding, calmodulin binding, microfilament motor activity, GO:0009267, GO:0006936, cellular response to starvation, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000006831 chr12 1688574 1788678 + ADIPOR2 protein_coding The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]. 79602 GO:0031226, GO:0016021, GO:0005886, GO:0005886, intrinsic component of plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0097003, GO:0055100, GO:0046872, GO:0042802, GO:0038023, GO:0005515, adipokinetic hormone receptor activity, adiponectin binding, metal ion binding, identical protein binding, signaling receptor activity, protein binding, GO:0120162, GO:0071398, GO:0061871, GO:0061042, GO:0046326, GO:0045471, GO:0042593, GO:0042493, GO:0042304, GO:0033211, GO:0033211, GO:0032496, GO:0030308, GO:0019395, GO:0014075, GO:0010629, GO:0009755, GO:0009750, GO:0007584, GO:0007565, GO:0007507, GO:0001934, positive regulation of cold-induced thermogenesis, cellular response to fatty acid, negative regulation of hepatic stellate cell migration, vascular wound healing, positive regulation of glucose import, response to ethanol, glucose homeostasis, response to drug, regulation of fatty acid biosynthetic process, adiponectin-activated signaling pathway, adiponectin-activated signaling pathway, response to lipopolysaccharide, negative regulation of cell growth, fatty acid oxidation, response to amine, negative regulation of gene expression, hormone-mediated signaling pathway, response to fructose, response to nutrient, female pregnancy, heart development, positive regulation of protein phosphorylation, 1094 689 1394 397 406 458 356 320 328 ENSG00000006837 chr5 134286350 134371047 - CDKL3 protein_coding The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 51265 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0004693, GO:0004672, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein kinase activity, GO:0097484, GO:0051726, GO:0050775, GO:0030517, GO:0006468, GO:0006464, dendrite extension, regulation of cell cycle, positive regulation of dendrite morphogenesis, negative regulation of axon extension, protein phosphorylation, cellular protein modification process, 2 4 0 7 0 8 3 5 3 ENSG00000007001 chr2 157876702 158136154 + UPP2 protein_coding 151531 GO:0045098, GO:0005829, GO:0005829, type III intermediate filament, cytosol, cytosol, GO:0042802, GO:0005515, GO:0004850, identical protein binding, protein binding, uridine phosphorylase activity, GO:0046135, GO:0046108, GO:0044206, GO:0043097, GO:0009166, GO:0009116, GO:0006218, pyrimidine nucleoside catabolic process, uridine metabolic process, UMP salvage, pyrimidine nucleoside salvage, nucleotide catabolic process, nucleoside metabolic process, uridine catabolic process, 1 0 0 1 0 0 0 0 0 ENSG00000007038 chr16 2817180 2826304 + PRSS21 protein_coding This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 10942 GO:0031225, GO:0016020, GO:0005886, GO:0005737, GO:0005615, GO:0005576, anchored component of membrane, membrane, plasma membrane, cytoplasm, extracellular space, extracellular region, GO:0008236, GO:0005515, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0007283, GO:0006508, spermatogenesis, proteolysis, 3 5 6 0 1 2 0 1 0 ENSG00000007047 chr19 45079288 45305283 + MARK4 protein_coding This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 57787 GO:0043005, GO:0036064, GO:0030496, GO:0030425, GO:0015630, GO:0005829, GO:0005829, GO:0005815, GO:0005813, GO:0005737, GO:0005737, GO:0000930, neuron projection, ciliary basal body, midbody, dendrite, microtubule cytoskeleton, cytosol, cytosol, microtubule organizing center, centrosome, cytoplasm, cytoplasm, gamma-tubulin complex, GO:0106311, GO:0106310, GO:0050321, GO:0050321, GO:0050321, GO:0050321, GO:0048156, GO:0043130, GO:0043015, GO:0008017, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, ubiquitin binding, gamma-tubulin binding, microtubule binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1904781, GO:0097711, GO:0051301, GO:0046605, GO:0045724, GO:0044782, GO:0043068, GO:0035556, GO:0007399, GO:0007049, GO:0006468, GO:0006468, GO:0001578, GO:0000226, GO:0000226, GO:0000226, positive regulation of protein localization to centrosome, ciliary basal body-plasma membrane docking, cell division, regulation of centrosome cycle, positive regulation of cilium assembly, cilium organization, positive regulation of programmed cell death, intracellular signal transduction, nervous system development, cell cycle, protein phosphorylation, protein phosphorylation, microtubule bundle formation, microtubule cytoskeleton organization, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 750 630 856 283 416 437 345 419 401 ENSG00000007062 chr4 15963076 16084378 - PROM1 protein_coding This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 8842 GO:0071914, GO:0070062, GO:0070062, GO:0042622, GO:0031982, GO:0031528, GO:0016324, GO:0009986, GO:0009986, GO:0005929, GO:0005902, GO:0005887, GO:0005886, GO:0005793, GO:0005783, GO:0005615, GO:0001750, prominosome, extracellular exosome, extracellular exosome, photoreceptor outer segment membrane, vesicle, microvillus membrane, apical plasma membrane, cell surface, cell surface, cilium, microvillus, integral component of plasma membrane, plasma membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, extracellular space, photoreceptor outer segment, GO:0045296, GO:0042805, GO:0015485, GO:0005515, cadherin binding, actinin binding, cholesterol binding, protein binding, GO:2000768, GO:0072139, GO:0072112, GO:0060219, GO:0060219, GO:0060219, GO:0060042, GO:0045494, GO:0045494, GO:0010842, positive regulation of nephron tubule epithelial cell differentiation, glomerular parietal epithelial cell differentiation, glomerular visceral epithelial cell differentiation, camera-type eye photoreceptor cell differentiation, camera-type eye photoreceptor cell differentiation, camera-type eye photoreceptor cell differentiation, retina morphogenesis in camera-type eye, photoreceptor cell maintenance, photoreceptor cell maintenance, retina layer formation, 0 0 1 6 1 0 0 0 0 ENSG00000007080 chr19 17933016 17943991 + CCDC124 protein_coding 115098 GO:0030496, GO:0005886, GO:0005829, GO:0005815, midbody, plasma membrane, cytosol, microtubule organizing center, GO:0003723, RNA binding, GO:0051301, GO:0007049, cell division, cell cycle, 82 62 85 57 105 130 79 73 55 ENSG00000007129 chr19 41549518 41586844 + CEACAM21 protein_coding 90273 GO:0016021, integral component of membrane, 4 3 2 5 7 1 0 1 0 ENSG00000007168 chr17 2593210 2685615 + PAFAH1B1 protein_coding This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]. 5048 GO:1904115, GO:0090724, GO:0070062, GO:0048471, GO:0045202, GO:0043025, GO:0043005, GO:0032420, GO:0031965, GO:0031514, GO:0031252, GO:0008247, GO:0005938, GO:0005881, GO:0005875, GO:0005875, GO:0005871, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0005635, GO:0005635, GO:0000776, GO:0000776, GO:0000235, axon cytoplasm, central region of growth cone, extracellular exosome, perinuclear region of cytoplasm, synapse, neuronal cell body, neuron projection, stereocilium, nuclear membrane, motile cilium, cell leading edge, 1-alkyl-2-acetylglycerophosphocholine esterase complex, cell cortex, cytoplasmic microtubule, microtubule associated complex, microtubule associated complex, kinesin complex, cytosol, cytosol, centrosome, centrosome, nuclear envelope, nuclear envelope, kinetochore, kinetochore, astral microtubule, GO:0070840, GO:0070840, GO:0051219, GO:0051010, GO:0046982, GO:0045505, GO:0043274, GO:0042802, GO:0034452, GO:0008201, GO:0008017, GO:0005515, dynein complex binding, dynein complex binding, phosphoprotein binding, microtubule plus-end binding, protein heterodimerization activity, dynein intermediate chain binding, phospholipase binding, identical protein binding, dynactin binding, heparin binding, microtubule binding, protein binding, GO:2000574, GO:0097711, GO:0090176, GO:0090102, GO:0070507, GO:0061003, GO:0060117, GO:0051661, GO:0051660, GO:0051081, GO:0051012, GO:0050885, GO:0048854, GO:0048854, GO:0047496, GO:0047496, GO:0046469, GO:0046329, GO:0045931, GO:0045773, GO:0043622, GO:0043087, GO:0042249, GO:0040019, GO:0038026, GO:0036035, GO:0031023, GO:0031023, GO:0030036, GO:0021987, GO:0021895, GO:0021819, GO:0021766, GO:0021540, GO:0019226, GO:0017145, GO:0016042, GO:0010977, GO:0010389, GO:0009306, GO:0008344, GO:0008090, GO:0008090, GO:0007611, GO:0007405, GO:0007281, GO:0007268, GO:0007097, GO:0007017, GO:0001961, GO:0001764, GO:0001764, GO:0001675, GO:0001667, GO:0000226, GO:0000132, GO:0000132, GO:0000086, regulation of microtubule motor activity, ciliary basal body-plasma membrane docking, microtubule cytoskeleton organization involved in establishment of planar polarity, cochlea development, regulation of microtubule cytoskeleton organization, positive regulation of dendritic spine morphogenesis, auditory receptor cell development, maintenance of centrosome location, establishment of centrosome localization, nuclear envelope disassembly, microtubule sliding, neuromuscular process controlling balance, brain morphogenesis, brain morphogenesis, vesicle transport along microtubule, vesicle transport along microtubule, platelet activating factor metabolic process, negative regulation of JNK cascade, positive regulation of mitotic cell cycle, positive regulation of axon extension, cortical microtubule organization, regulation of GTPase activity, establishment of planar polarity of embryonic epithelium, positive regulation of embryonic development, reelin-mediated signaling pathway, osteoclast development, microtubule organizing center organization, microtubule organizing center organization, actin cytoskeleton organization, cerebral cortex development, cerebral cortex neuron differentiation, layer formation in cerebral cortex, hippocampus development, corpus callosum morphogenesis, transmission of nerve impulse, stem cell division, lipid catabolic process, negative regulation of neuron projection development, regulation of G2/M transition of mitotic cell cycle, protein secretion, adult locomotory behavior, retrograde axonal transport, retrograde axonal transport, learning or memory, neuroblast proliferation, germ cell development, chemical synaptic transmission, nuclear migration, microtubule-based process, positive regulation of cytokine-mediated signaling pathway, neuron migration, neuron migration, acrosome assembly, ameboidal-type cell migration, microtubule cytoskeleton organization, establishment of mitotic spindle orientation, establishment of mitotic spindle orientation, G2/M transition of mitotic cell cycle, 2320 2103 3558 996 1358 1289 969 1119 888 ENSG00000007171 chr17 27756766 27800499 - NOS2 protein_coding Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 4843 GO:0048471, GO:0030863, GO:0012506, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005782, GO:0005777, GO:0005737, GO:0005634, GO:0005634, perinuclear region of cytoplasm, cortical cytoskeleton, vesicle membrane, plasma membrane, cytosol, cytosol, cytosol, peroxisomal matrix, peroxisome, cytoplasm, nucleus, nucleus, GO:0050661, GO:0050660, GO:0050660, GO:0046872, GO:0042803, GO:0034618, GO:0034617, GO:0020037, GO:0016709, GO:0016491, GO:0010181, GO:0010181, GO:0005516, GO:0005515, GO:0004517, GO:0004517, GO:0003958, NADP binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, metal ion binding, protein homodimerization activity, arginine binding, tetrahydrobiopterin binding, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, FMN binding, FMN binding, calmodulin binding, protein binding, nitric-oxide synthase activity, nitric-oxide synthase activity, NADPH-hemoprotein reductase activity, GO:1900015, GO:0071222, GO:0055114, GO:0051712, GO:0050829, GO:0050796, GO:0045776, GO:0045454, GO:0043457, GO:0042742, GO:0042742, GO:0042742, GO:0042177, GO:0042127, GO:0035690, GO:0032637, GO:0032635, GO:0032496, GO:0032310, GO:0031284, GO:0019221, GO:0018119, GO:0010629, GO:0009725, GO:0009617, GO:0007623, GO:0007263, GO:0006954, GO:0006809, GO:0006809, GO:0006801, GO:0006625, GO:0006527, GO:0006527, GO:0002227, GO:0001912, GO:0001666, regulation of cytokine production involved in inflammatory response, cellular response to lipopolysaccharide, oxidation-reduction process, positive regulation of killing of cells of other organism, defense response to Gram-negative bacterium, regulation of insulin secretion, negative regulation of blood pressure, cell redox homeostasis, regulation of cellular respiration, defense response to bacterium, defense response to bacterium, defense response to bacterium, negative regulation of protein catabolic process, regulation of cell population proliferation, cellular response to drug, interleukin-8 production, interleukin-6 production, response to lipopolysaccharide, prostaglandin secretion, positive regulation of guanylate cyclase activity, cytokine-mediated signaling pathway, peptidyl-cysteine S-nitrosylation, negative regulation of gene expression, response to hormone, response to bacterium, circadian rhythm, nitric oxide mediated signal transduction, inflammatory response, nitric oxide biosynthetic process, nitric oxide biosynthetic process, superoxide metabolic process, protein targeting to peroxisome, arginine catabolic process, arginine catabolic process, innate immune response in mucosa, positive regulation of leukocyte mediated cytotoxicity, response to hypoxia, 3 0 0 1 0 0 2 0 0 ENSG00000007174 chr17 11598431 11969748 + DNAH9 protein_coding This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]. 1770 GO:0120135, GO:0097729, GO:0031514, GO:0031514, GO:0030286, GO:0005930, GO:0005930, GO:0005874, distal portion of axoneme, 9+2 motile cilium, motile cilium, motile cilium, dynein complex, axoneme, axoneme, microtubule, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0005515, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, protein binding, GO:0030030, GO:0007018, GO:0003341, GO:0003341, cell projection organization, microtubule-based movement, cilium movement, cilium movement, 2 2 0 0 1 0 0 2 0 ENSG00000007202 chr17 28614440 28645454 - KIAA0100 protein_coding This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]. 9703 GO:0005576, extracellular region, 981 1290 1385 779 1265 1077 942 768 772 ENSG00000007216 chr17 28473293 28497781 + SLC13A2 protein_coding The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones. [provided by RefSeq, Oct 2016]. 9058 GO:0070062, GO:0016021, GO:0016020, GO:0005887, GO:0005886, extracellular exosome, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, GO:0015361, GO:0015141, GO:0005515, low-affinity sodium:dicarboxylate symporter activity, succinate transmembrane transporter activity, protein binding, GO:0098656, GO:0071422, GO:0006814, anion transmembrane transport, succinate transmembrane transport, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000007237 chr17 9910609 10198551 - GAS7 protein_coding Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]. 8522 GO:0005886, GO:0005884, GO:0005856, GO:0005737, plasma membrane, actin filament, cytoskeleton, cytoplasm, GO:0051015, GO:0008092, GO:0005515, actin filament binding, cytoskeletal protein binding, protein binding, GO:0048812, GO:0030041, neuron projection morphogenesis, actin filament polymerization, 2428 2498 1551 1096 1944 895 1478 1524 914 ENSG00000007255 chr19 45162928 45178237 - TRAPPC6A protein_coding This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. 79090 GO:0030008, GO:0005829, GO:0005802, GO:0005801, GO:0005783, GO:0000139, TRAPP complex, cytosol, trans-Golgi network, cis-Golgi network, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:1903232, GO:0048208, GO:0043087, GO:0006888, melanosome assembly, COPII vesicle coating, regulation of GTPase activity, endoplasmic reticulum to Golgi vesicle-mediated transport, 8 12 15 29 10 33 28 12 37 ENSG00000007264 chr19 3777970 3802129 - MATK protein_coding The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 4145 GO:0016020, GO:0005829, membrane, cytosol, GO:0005524, GO:0005515, GO:0004715, GO:0004713, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0038128, GO:0018108, GO:0008284, GO:0006468, ERBB2 signaling pathway, peptidyl-tyrosine phosphorylation, positive regulation of cell population proliferation, protein phosphorylation, 29 34 79 163 80 264 146 61 165 ENSG00000007306 chr19 41673307 41706976 - CEACAM7 protein_coding This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 1087 GO:0031225, GO:0016324, GO:0005886, GO:0005576, anchored component of membrane, apical plasma membrane, plasma membrane, extracellular region, 0 0 0 0 0 4 0 0 0 ENSG00000007312 chr17 63928740 63932354 - CD79B protein_coding The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 974 GO:0070062, GO:0019815, GO:0009897, GO:0005887, GO:0005886, extracellular exosome, B cell receptor complex, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0004888, identical protein binding, protein binding, transmembrane signaling receptor activity, GO:0050853, GO:0030183, GO:0009617, GO:0007165, GO:0006955, GO:0002250, B cell receptor signaling pathway, B cell differentiation, response to bacterium, signal transduction, immune response, adaptive immune response, 5 6 3 15 36 15 12 12 10 ENSG00000007314 chr17 63938554 63972918 - SCN4A protein_coding Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]. 6329 GO:0030424, GO:0005887, GO:0001518, GO:0001518, axon, integral component of plasma membrane, voltage-gated sodium channel complex, voltage-gated sodium channel complex, GO:0005515, GO:0005248, GO:0005248, GO:0005244, protein binding, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0100001, GO:0086010, GO:0035725, GO:0035725, GO:0034765, GO:0019228, GO:0006936, GO:0006814, regulation of skeletal muscle contraction by action potential, membrane depolarization during action potential, sodium ion transmembrane transport, sodium ion transmembrane transport, regulation of ion transmembrane transport, neuronal action potential, muscle contraction, sodium ion transport, 2 0 0 0 1 0 1 1 0 ENSG00000007341 chr1 112523518 112620825 - ST7L protein_coding This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq, Feb 2011]. 54879 GO:0016021, integral component of membrane, GO:0030308, negative regulation of cell growth, 169 187 274 234 306 397 202 237 381 ENSG00000007350 chrX 154295671 154330350 + TKTL1 protein_coding The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 8277 GO:0005829, GO:0005634, cytosol, nucleus, GO:0046872, GO:0030976, GO:0004802, metal ion binding, thiamine pyrophosphate binding, transketolase activity, GO:0006772, GO:0006007, thiamine metabolic process, glucose catabolic process, 33 119 43 43 33 16 53 43 4 ENSG00000007372 chr11 31784779 31818062 - PAX6 protein_coding This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]. 5080 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, cytosol, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0071837, GO:0070412, GO:0070410, GO:0035035, GO:0031625, GO:0019901, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000979, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, HMG box domain binding, R-SMAD binding, co-SMAD binding, histone acetyltransferase binding, ubiquitin protein ligase binding, protein kinase binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000178, GO:1990830, GO:1904798, GO:0061303, GO:0061072, GO:0060041, GO:0050768, GO:0050680, GO:0048856, GO:0048708, GO:0048663, GO:0048596, GO:0048505, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045665, GO:0042593, GO:0042462, GO:0033365, GO:0032808, GO:0030858, GO:0030334, GO:0030216, GO:0023019, GO:0021986, GO:0021983, GO:0021905, GO:0021902, GO:0021798, GO:0021796, GO:0021778, GO:0021517, GO:0010628, GO:0009950, GO:0009887, GO:0009786, GO:0009611, GO:0007601, GO:0007435, GO:0007417, GO:0007411, GO:0007224, GO:0006357, GO:0003322, GO:0003309, GO:0002088, GO:0002052, GO:0001933, GO:0001764, GO:0001709, GO:0001654, GO:0001568, GO:0000132, GO:0000122, negative regulation of neural precursor cell proliferation, cellular response to leukemia inhibitory factor, positive regulation of core promoter binding, cornea development in camera-type eye, iris morphogenesis, retina development in camera-type eye, negative regulation of neurogenesis, negative regulation of epithelial cell proliferation, anatomical structure development, astrocyte differentiation, neuron fate commitment, embryonic camera-type eye morphogenesis, regulation of timing of cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of neuron differentiation, glucose homeostasis, eye photoreceptor cell development, protein localization to organelle, lacrimal gland development, positive regulation of epithelial cell differentiation, regulation of cell migration, keratinocyte differentiation, signal transduction involved in regulation of gene expression, habenula development, pituitary gland development, forebrain-midbrain boundary formation, commitment of neuronal cell to specific neuron type in forebrain, forebrain dorsal/ventral pattern formation, cerebral cortex regionalization, oligodendrocyte cell fate specification, ventral spinal cord development, positive regulation of gene expression, dorsal/ventral axis specification, animal organ morphogenesis, regulation of asymmetric cell division, response to wounding, visual perception, salivary gland morphogenesis, central nervous system development, axon guidance, smoothened signaling pathway, regulation of transcription by RNA polymerase II, pancreatic A cell development, type B pancreatic cell differentiation, lens development in camera-type eye, positive regulation of neuroblast proliferation, negative regulation of protein phosphorylation, neuron migration, cell fate determination, eye development, blood vessel development, establishment of mitotic spindle orientation, negative regulation of transcription by RNA polymerase II, 2 1 0 10 1 2 15 1 6 ENSG00000007376 chr16 784974 788397 - RPUSD1 protein_coding 113000 GO:0005575, cellular_component, GO:0009982, GO:0005515, GO:0003723, GO:0003674, pseudouridine synthase activity, protein binding, RNA binding, molecular_function, GO:0008150, GO:0000455, biological_process, enzyme-directed rRNA pseudouridine synthesis, 54 59 46 54 81 69 36 46 48 ENSG00000007384 chr16 58059 76355 - RHBDF1 protein_coding 64285 GO:0016021, GO:0005789, GO:0005789, GO:0000139, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0019838, GO:0005515, GO:0004252, GO:0004252, growth factor binding, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0061136, GO:0050709, GO:0050708, GO:0050708, GO:0042058, GO:0042058, GO:0016477, GO:0015031, GO:0008283, GO:0006508, regulation of proteasomal protein catabolic process, negative regulation of protein secretion, regulation of protein secretion, regulation of protein secretion, regulation of epidermal growth factor receptor signaling pathway, regulation of epidermal growth factor receptor signaling pathway, cell migration, protein transport, cell population proliferation, proteolysis, 0 1 0 0 0 0 0 0 0 ENSG00000007392 chr16 188969 229463 - LUC7L protein_coding The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]. 55692 GO:0071004, GO:0005685, U2-type prespliceosome, U1 snRNP, GO:0050733, GO:0042802, GO:0005515, GO:0003729, RS domain binding, identical protein binding, protein binding, mRNA binding, GO:0045843, GO:0006376, negative regulation of striated muscle tissue development, mRNA splice site selection, 229 260 352 353 287 339 238 225 224 ENSG00000007402 chr3 50362799 50504244 - CACNA2D2 protein_coding Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]. 9254 GO:0005891, GO:0005886, voltage-gated calcium channel complex, plasma membrane, GO:0046872, GO:0005245, metal ion binding, voltage-gated calcium channel activity, GO:0070588, GO:0061337, GO:0060024, GO:0050796, GO:0048747, GO:0046622, GO:0040014, GO:0034765, GO:0007528, calcium ion transmembrane transport, cardiac conduction, rhythmic synaptic transmission, regulation of insulin secretion, muscle fiber development, positive regulation of organ growth, regulation of multicellular organism growth, regulation of ion transmembrane transport, neuromuscular junction development, 21 23 48 67 39 77 30 45 74 ENSG00000007516 chr16 1333601 1349441 + BAIAP3 protein_coding This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 8938 GO:0098793, GO:0055038, GO:0032588, GO:0031902, GO:0031901, GO:0031045, GO:0005886, GO:0005829, presynapse, recycling endosome membrane, trans-Golgi network membrane, late endosome membrane, early endosome membrane, dense core granule, plasma membrane, cytosol, GO:0019905, GO:0005543, GO:0005515, GO:0005509, GO:0000149, GO:0000149, syntaxin binding, phospholipid binding, protein binding, calcium ion binding, SNARE binding, SNARE binding, GO:1990502, GO:1905413, GO:0042147, GO:0035774, GO:0032228, GO:0007186, GO:0006887, GO:0001956, dense core granule maturation, regulation of dense core granule exocytosis, retrograde transport, endosome to Golgi, positive regulation of insulin secretion involved in cellular response to glucose stimulus, regulation of synaptic transmission, GABAergic, G protein-coupled receptor signaling pathway, exocytosis, positive regulation of neurotransmitter secretion, 382 609 427 494 683 439 490 546 373 ENSG00000007520 chr16 1349240 1351911 - TSR3 protein_coding 115939 GO:0005829, cytosol, GO:1904047, GO:0016740, GO:0016740, S-adenosyl-L-methionine binding, transferase activity, transferase activity, GO:0030490, GO:0000455, GO:0000154, maturation of SSU-rRNA, enzyme-directed rRNA pseudouridine synthesis, rRNA modification, 182 170 171 135 134 158 139 141 142 ENSG00000007541 chr16 566995 584136 + PIGQ protein_coding This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]. 9091 GO:0016021, GO:0005789, GO:0000506, GO:0000506, integral component of membrane, endoplasmic reticulum membrane, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, GO:0017176, phosphatidylinositol N-acetylglucosaminyltransferase activity, GO:0016254, GO:0006506, GO:0005975, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, carbohydrate metabolic process, 81 118 90 92 100 62 72 102 72 ENSG00000007545 chr16 1612325 1677908 + CRAMP1 protein_coding 57585 GO:0005634, nucleus, GO:0003682, GO:0003677, chromatin binding, DNA binding, GO:0007389, pattern specification process, 81 126 96 89 149 130 134 90 103 ENSG00000007866 chr6 35473597 35497076 - TEAD3 protein_coding This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008]. 7005 GO:0005667, GO:0005654, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, chromatin, chromatin, GO:0005515, GO:0003700, GO:0001085, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0055059, GO:0048568, GO:0035329, GO:0035329, GO:0007565, GO:0006367, GO:0006357, GO:0006357, asymmetric neuroblast division, embryonic organ development, hippo signaling, hippo signaling, female pregnancy, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 6 1 2 1 1 6 5 2 2 ENSG00000007908 chr1 169722641 169764705 - SELE protein_coding The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]. 6401 GO:0048471, GO:0045121, GO:0030863, GO:0005905, GO:0005901, GO:0005887, GO:0005886, GO:0005615, perinuclear region of cytoplasm, membrane raft, cortical cytoskeleton, clathrin-coated pit, caveola, integral component of plasma membrane, plasma membrane, extracellular space, GO:0070492, GO:0046872, GO:0043274, GO:0033691, GO:0005515, GO:0004888, oligosaccharide binding, metal ion binding, phospholipase binding, sialic acid binding, protein binding, transmembrane signaling receptor activity, GO:1903238, GO:0070555, GO:0050901, GO:0050900, GO:0050727, GO:0034612, GO:0032496, GO:0030029, GO:0019722, GO:0007202, GO:0007159, GO:0007157, GO:0006954, GO:0002523, GO:0002092, positive regulation of leukocyte tethering or rolling, response to interleukin-1, leukocyte tethering or rolling, leukocyte migration, regulation of inflammatory response, response to tumor necrosis factor, response to lipopolysaccharide, actin filament-based process, calcium-mediated signaling, activation of phospholipase C activity, leukocyte cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, inflammatory response, leukocyte migration involved in inflammatory response, positive regulation of receptor internalization, 0 0 0 0 0 0 0 0 0 ENSG00000007923 chr1 6634168 6701924 - DNAJC11 protein_coding 55735 GO:0140275, GO:0061617, GO:0061617, GO:0005739, GO:0001401, GO:0001401, MIB complex, MICOS complex, MICOS complex, mitochondrion, SAM complex, SAM complex, GO:0005515, protein binding, GO:0042407, GO:0007007, cristae formation, inner mitochondrial membrane organization, 25 24 30 43 38 56 62 36 79 ENSG00000007933 chr1 171090877 171117819 + FMO3 protein_coding Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]. 2328 GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0050661, GO:0050660, GO:0034899, GO:0005515, GO:0004499, GO:0004497, NADP binding, flavin adenine dinucleotide binding, trimethylamine monooxygenase activity, protein binding, N,N-dimethylaniline monooxygenase activity, monooxygenase activity, GO:0055114, GO:0006805, oxidation-reduction process, xenobiotic metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000007944 chr6 16129125 16148248 + MYLIP protein_coding The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]. 29116 GO:0005886, GO:0005856, GO:0005829, plasma membrane, cytoskeleton, cytosol, GO:0061630, GO:0046872, GO:0008092, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, metal ion binding, cytoskeletal protein binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0045732, GO:0042632, GO:0032803, GO:0032802, GO:0031648, GO:0016567, GO:0010989, GO:0010977, GO:0007399, GO:0006511, GO:0000209, positive regulation of protein catabolic process, cholesterol homeostasis, regulation of low-density lipoprotein particle receptor catabolic process, low-density lipoprotein particle receptor catabolic process, protein destabilization, protein ubiquitination, negative regulation of low-density lipoprotein particle clearance, negative regulation of neuron projection development, nervous system development, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 1612 1822 2754 1477 2355 2381 1317 1486 1858 ENSG00000007952 chrX 100843324 100874345 - NOX1 protein_coding This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]. 27035 GO:0071438, GO:0043020, GO:0043020, GO:0030054, GO:0005886, GO:0005886, GO:0005769, invadopodium membrane, NADPH oxidase complex, NADPH oxidase complex, cell junction, plasma membrane, plasma membrane, early endosome, GO:0050661, GO:0046872, GO:0031267, GO:0016175, GO:0016175, GO:0016175, GO:0016175, GO:0005515, GO:0005244, NADP binding, metal ion binding, small GTPase binding, superoxide-generating NAD(P)H oxidase activity, superoxide-generating NAD(P)H oxidase activity, superoxide-generating NAD(P)H oxidase activity, superoxide-generating NAD(P)H oxidase activity, protein binding, voltage-gated ion channel activity, GO:1990451, GO:1902177, GO:0072592, GO:0071455, GO:0055114, GO:0055114, GO:0051454, GO:0048661, GO:0046330, GO:0045730, GO:0045726, GO:0042743, GO:0042554, GO:0042554, GO:0042554, GO:0034765, GO:0034220, GO:0030198, GO:0016477, GO:0010575, GO:0008284, GO:0008217, GO:0007165, GO:0006954, GO:0006952, GO:0006739, GO:0003081, GO:0001525, cellular stress response to acidic pH, positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, oxygen metabolic process, cellular response to hyperoxia, oxidation-reduction process, oxidation-reduction process, intracellular pH elevation, positive regulation of smooth muscle cell proliferation, positive regulation of JNK cascade, respiratory burst, positive regulation of integrin biosynthetic process, hydrogen peroxide metabolic process, superoxide anion generation, superoxide anion generation, superoxide anion generation, regulation of ion transmembrane transport, ion transmembrane transport, extracellular matrix organization, cell migration, positive regulation of vascular endothelial growth factor production, positive regulation of cell population proliferation, regulation of blood pressure, signal transduction, inflammatory response, defense response, NADP metabolic process, regulation of systemic arterial blood pressure by renin-angiotensin, angiogenesis, 0 0 0 0 0 0 4 0 0 ENSG00000007968 chr1 23506430 23531220 - E2F2 protein_coding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008]. 1870 GO:0090575, GO:0090575, GO:0005654, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0046983, GO:0043565, GO:0008134, GO:0005515, GO:0001228, GO:0001228, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein dimerization activity, sequence-specific DNA binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1990086, GO:1903671, GO:0072332, GO:0045944, GO:0007049, GO:0006367, GO:0006357, lens fiber cell apoptotic process, negative regulation of sprouting angiogenesis, intrinsic apoptotic signaling pathway by p53 class mediator, positive regulation of transcription by RNA polymerase II, cell cycle, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 10 20 17 64 36 90 44 32 49 ENSG00000008018 chr6 170535117 170553341 - PSMB1 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]. 5689 GO:1904813, GO:0070062, GO:0034774, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular region, proteasome complex, GO:0005515, GO:0004298, GO:0004175, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 855 768 873 307 387 351 322 342 240 ENSG00000008056 chrX 47571898 47619943 - SYN1 protein_coding This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 6853 GO:0098993, GO:0098850, GO:0098685, GO:0048786, GO:0030672, GO:0030425, GO:0030424, GO:0014069, GO:0008021, GO:0005856, GO:0005829, GO:0005794, GO:0000795, anchored component of synaptic vesicle membrane, extrinsic component of synaptic vesicle membrane, Schaffer collateral - CA1 synapse, presynaptic active zone, synaptic vesicle membrane, dendrite, axon, postsynaptic density, synaptic vesicle, cytoskeleton, cytosol, Golgi apparatus, synaptonemal complex, GO:0048306, GO:0042802, GO:0019901, GO:0005524, GO:0005515, GO:0005215, GO:0003779, calcium-dependent protein binding, identical protein binding, protein kinase binding, ATP binding, protein binding, transporter activity, actin binding, GO:2000300, GO:0097091, GO:0050808, GO:0048666, GO:0046928, GO:0007269, GO:0007268, regulation of synaptic vesicle exocytosis, synaptic vesicle clustering, synapse organization, neuron development, regulation of neurotransmitter secretion, neurotransmitter secretion, chemical synaptic transmission, 2 9 2 2 6 0 2 5 3 ENSG00000008083 chr6 15246296 15522040 + JARID2 protein_coding This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]. 3720 GO:0035098, GO:0035097, GO:0035097, GO:0005739, GO:0005654, GO:0005654, GO:0005634, ESC/E(Z) complex, histone methyltransferase complex, histone methyltransferase complex, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:0034647, GO:0032452, GO:0032452, GO:0008134, GO:0003682, GO:0001227, GO:0000977, histone demethylase activity (H3-trimethyl-K4 specific), histone demethylase activity, histone demethylase activity, transcription factor binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1990830, GO:0060044, GO:0051574, GO:0048863, GO:0048538, GO:0048536, GO:0045892, GO:0045814, GO:0034721, GO:0031061, GO:0010614, GO:0007417, GO:0006338, GO:0001889, GO:0000122, cellular response to leukemia inhibitory factor, negative regulation of cardiac muscle cell proliferation, positive regulation of histone H3-K9 methylation, stem cell differentiation, thymus development, spleen development, negative regulation of transcription, DNA-templated, negative regulation of gene expression, epigenetic, histone H3-K4 demethylation, trimethyl-H3-K4-specific, negative regulation of histone methylation, negative regulation of cardiac muscle hypertrophy, central nervous system development, chromatin remodeling, liver development, negative regulation of transcription by RNA polymerase II, 4274 5517 4332 2279 3673 2357 2635 2710 2039 ENSG00000008086 chrX 18425583 18653629 + CDKL5 protein_coding This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]. 6792 GO:0098978, GO:0098978, GO:0097542, GO:0048471, GO:0044294, GO:0036064, GO:0032839, GO:0032839, GO:0032587, GO:0005813, GO:0005634, GO:0005634, glutamatergic synapse, glutamatergic synapse, ciliary tip, perinuclear region of cytoplasm, dendritic growth cone, ciliary basal body, dendrite cytoplasm, dendrite cytoplasm, ruffle membrane, centrosome, nucleus, nucleus, GO:0031267, GO:0016301, GO:0005524, GO:0005515, GO:0004693, GO:0004674, GO:0004672, small GTPase binding, kinase activity, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1902017, GO:0099175, GO:0099175, GO:0060999, GO:0051726, GO:0050775, GO:0050773, GO:0050773, GO:0046777, GO:0045773, GO:0045773, GO:0043547, GO:0006468, GO:0001764, regulation of cilium assembly, regulation of postsynapse organization, regulation of postsynapse organization, positive regulation of dendritic spine development, regulation of cell cycle, positive regulation of dendrite morphogenesis, regulation of dendrite development, regulation of dendrite development, protein autophosphorylation, positive regulation of axon extension, positive regulation of axon extension, positive regulation of GTPase activity, protein phosphorylation, neuron migration, 291 381 359 153 312 235 193 226 224 ENSG00000008118 chr1 209583717 209613938 + CAMK1G protein_coding This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008]. 57172 GO:0043005, GO:0005954, GO:0005886, GO:0005622, GO:0000139, neuron projection, calcium- and calmodulin-dependent protein kinase complex, plasma membrane, intracellular anatomical structure, Golgi membrane, GO:0005524, GO:0005516, GO:0005515, GO:0004683, ATP binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, GO:0018105, peptidyl-serine phosphorylation, 0 0 25 9 3 42 10 10 27 ENSG00000008128 chr1 1702730 1724324 - CDK11A protein_coding This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 728642 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0005524, GO:0004693, GO:0004674, GO:0004672, ATP binding, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0050684, GO:0007346, GO:0006915, GO:0006468, GO:0006468, GO:0006355, GO:0001558, GO:0000278, regulation of mRNA processing, regulation of mitotic cell cycle, apoptotic process, protein phosphorylation, protein phosphorylation, regulation of transcription, DNA-templated, regulation of cell growth, mitotic cell cycle, 60 60 79 75 76 120 66 54 95 ENSG00000008130 chr1 1751232 1780457 - NADK protein_coding NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008]. 65220 GO:0005829, cytosol, GO:0046872, GO:0005524, GO:0005515, GO:0003951, GO:0003951, metal ion binding, ATP binding, protein binding, NAD+ kinase activity, NAD+ kinase activity, GO:0046034, GO:0035774, GO:0019674, GO:0016310, GO:0006741, ATP metabolic process, positive regulation of insulin secretion involved in cellular response to glucose stimulus, NAD metabolic process, phosphorylation, NADP biosynthetic process, 9058 8867 12892 5438 6722 9184 7337 5854 8261 ENSG00000008196 chr6 50818723 50847613 + TFAP2B protein_coding This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]. 7021 GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0046982, GO:0043565, GO:0042803, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001228, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein heterodimerization activity, sequence-specific DNA binding, protein homodimerization activity, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0097277, GO:0097276, GO:0097275, GO:0097070, GO:0072210, GO:0072044, GO:0072017, GO:0055078, GO:0055075, GO:0055074, GO:0055062, GO:0050796, GO:0048856, GO:0048485, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045595, GO:0045444, GO:0043588, GO:0043525, GO:0043524, GO:0043066, GO:0043066, GO:0042593, GO:0042127, GO:0035909, GO:0035810, GO:0035137, GO:0035136, GO:0030510, GO:0010960, GO:0010842, GO:0008285, GO:0008284, GO:0006357, GO:0006006, GO:0003091, GO:0001822, GO:0000122, GO:0000122, cellular urea homeostasis, cellular creatinine homeostasis, cellular ammonium homeostasis, ductus arteriosus closure, metanephric nephron development, collecting duct development, distal tubule development, sodium ion homeostasis, potassium ion homeostasis, calcium ion homeostasis, phosphate ion homeostasis, regulation of insulin secretion, anatomical structure development, sympathetic nervous system development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of cell differentiation, fat cell differentiation, skin development, positive regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, glucose homeostasis, regulation of cell population proliferation, aorta morphogenesis, positive regulation of urine volume, hindlimb morphogenesis, forelimb morphogenesis, regulation of BMP signaling pathway, magnesium ion homeostasis, retina layer formation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, glucose metabolic process, renal water homeostasis, kidney development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 0 0 0 ENSG00000008197 chr6 50713828 50772988 + TFAP2D protein_coding 83741 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:0005515, GO:0000981, GO:0000981, GO:0000977, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0061379, GO:0048856, GO:0045944, GO:0043524, GO:0042127, GO:0006357, inferior colliculus development, anatomical structure development, positive regulation of transcription by RNA polymerase II, negative regulation of neuron apoptotic process, regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000008226 chr3 38039205 38124025 + DLEC1 protein_coding The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016]. 9940 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0003674, molecular_function, GO:0008285, negative regulation of cell population proliferation, 338 388 398 324 356 325 268 356 341 ENSG00000008256 chr7 6161776 6272644 - CYTH3 protein_coding This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]. 9265 GO:0031234, GO:0005923, GO:0005912, GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0001726, GO:0000139, extrinsic component of cytoplasmic side of plasma membrane, bicellular tight junction, adherens junction, plasma membrane, cytosol, cytosol, nucleoplasm, ruffle, Golgi membrane, GO:0005547, GO:0005515, GO:0005085, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0090162, GO:0048193, GO:0045785, GO:0032012, establishment of epithelial cell polarity, Golgi vesicle transport, positive regulation of cell adhesion, regulation of ARF protein signal transduction, 81 91 117 67 104 91 80 48 59 ENSG00000008277 chr7 87934143 88202889 + ADAM22 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]. 53616 GO:0099061, GO:0098978, GO:0030424, GO:0016021, GO:0016021, GO:0005886, GO:0005886, integral component of postsynaptic density membrane, glutamatergic synapse, axon, integral component of membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005178, GO:0004222, protein binding, integrin binding, metalloendopeptidase activity, GO:0099645, GO:0022011, GO:0008344, GO:0007417, GO:0007162, GO:0007155, GO:0006508, neurotransmitter receptor localization to postsynaptic specialization membrane, myelination in peripheral nervous system, adult locomotory behavior, central nervous system development, negative regulation of cell adhesion, cell adhesion, proteolysis, 11 6 26 11 3 24 12 5 13 ENSG00000008282 chr7 106090503 106112576 - SYPL1 protein_coding 6856 GO:0070062, GO:0042470, GO:0030672, GO:0030141, GO:0016021, GO:0005887, extracellular exosome, melanosome, synaptic vesicle membrane, secretory granule, integral component of membrane, integral component of plasma membrane, GO:0017075, GO:0005515, syntaxin-1 binding, protein binding, GO:0007268, chemical synaptic transmission, 134 139 191 79 84 88 111 102 79 ENSG00000008283 chr17 63432304 63446378 - CYB561 protein_coding 1534 GO:0030658, GO:0016021, GO:0005765, transport vesicle membrane, integral component of membrane, lysosomal membrane, GO:0046872, GO:0016491, GO:0005515, GO:0000293, metal ion binding, oxidoreductase activity, protein binding, ferric-chelate reductase activity, GO:0022900, electron transport chain, 103 80 145 121 79 115 119 56 85 ENSG00000008294 chr17 50962174 51120865 - SPAG9 protein_coding This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]. 9043 GO:0070062, GO:0048471, GO:0034451, GO:0005829, GO:0005829, GO:0005765, GO:0005737, GO:0001669, extracellular exosome, perinuclear region of cytoplasm, centriolar satellite, cytosol, cytosol, lysosomal membrane, cytoplasm, acrosomal vesicle, GO:0042802, GO:0030159, GO:0019894, GO:0008432, GO:0005515, GO:0005078, identical protein binding, signaling receptor complex adaptor activity, kinesin binding, JUN kinase binding, protein binding, MAP-kinase scaffold activity, GO:0051149, GO:0051146, GO:0045666, GO:0042147, GO:0032418, GO:0030335, GO:0016192, GO:0007257, positive regulation of muscle cell differentiation, striated muscle cell differentiation, positive regulation of neuron differentiation, retrograde transport, endosome to Golgi, lysosome localization, positive regulation of cell migration, vesicle-mediated transport, activation of JUN kinase activity, 4918 5533 7030 2699 4703 4231 3028 3619 3548 ENSG00000008300 chr3 48636469 48662915 - CELSR3 protein_coding This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]. 1951 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0005509, GO:0004930, protein binding, calcium ion binding, G protein-coupled receptor activity, GO:1904938, GO:0098609, GO:0060271, GO:0060071, GO:0036515, GO:0036514, GO:0032880, GO:0007413, GO:0007186, GO:0007156, GO:0001932, GO:0001764, planar cell polarity pathway involved in axon guidance, cell-cell adhesion, cilium assembly, Wnt signaling pathway, planar cell polarity pathway, serotonergic neuron axon guidance, dopaminergic neuron axon guidance, regulation of protein localization, axonal fasciculation, G protein-coupled receptor signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, regulation of protein phosphorylation, neuron migration, 3 3 14 4 1 16 16 1 7 ENSG00000008311 chr7 122075647 122144280 - AASS protein_coding This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]. 10157 GO:0043231, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, nucleus, GO:0047131, GO:0047130, GO:0042393, GO:0004754, GO:0004753, GO:0003714, saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity, saccharopine dehydrogenase (NADP+, L-lysine-forming) activity, histone binding, saccharopine dehydrogenase (NAD+, L-lysine-forming) activity, saccharopine dehydrogenase activity, transcription corepressor activity, GO:0055114, GO:0033512, GO:0031061, GO:0019878, GO:0006554, GO:0006554, GO:0000122, oxidation-reduction process, L-lysine catabolic process to acetyl-CoA via saccharopine, negative regulation of histone methylation, lysine biosynthetic process via aminoadipic acid, lysine catabolic process, lysine catabolic process, negative regulation of transcription by RNA polymerase II, 4 1 2 5 2 5 4 1 9 ENSG00000008323 chr12 6310436 6328506 + PLEKHG6 protein_coding 55200 GO:0032154, GO:0030054, GO:0005902, GO:0005813, GO:0005737, GO:0000922, cleavage furrow, cell junction, microvillus, centrosome, cytoplasm, spindle pole, GO:0005515, GO:0005096, GO:0005085, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0043547, positive regulation of GTPase activity, 35 49 38 142 165 166 180 113 84 ENSG00000008324 chr3 42581840 42595114 + SS18L2 protein_coding Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]. 51188 GO:0005634, nucleus, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:0050775, GO:0045944, positive regulation of dendrite morphogenesis, positive regulation of transcription by RNA polymerase II, 185 123 155 96 92 106 98 101 83 ENSG00000008382 chr19 4343527 4360086 + MPND protein_coding 84954 GO:0070122, GO:0046872, GO:0042393, GO:0008237, GO:0005515, GO:0004843, GO:0003713, isopeptidase activity, metal ion binding, histone binding, metallopeptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, transcription coactivator activity, GO:0045944, GO:0006508, GO:0006338, positive regulation of transcription by RNA polymerase II, proteolysis, chromatin remodeling, 57 63 50 67 76 91 89 73 77 ENSG00000008394 chr12 16347142 16609259 + MGST1 protein_coding The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012]. 4257 GO:0045177, GO:0035577, GO:0016021, GO:0005886, GO:0005789, GO:0005783, GO:0005778, GO:0005741, GO:0005739, GO:0005739, GO:0005634, apical part of cell, azurophil granule membrane, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, peroxisomal membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, nucleus, GO:0043295, GO:0042802, GO:0005515, GO:0004602, GO:0004364, GO:0004364, glutathione binding, identical protein binding, protein binding, glutathione peroxidase activity, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0098869, GO:0071449, GO:0055114, GO:0055114, GO:0043312, GO:0042493, GO:0033327, GO:0032496, GO:0010243, GO:0006805, glutathione derivative biosynthetic process, cellular oxidant detoxification, cellular response to lipid hydroperoxide, oxidation-reduction process, oxidation-reduction process, neutrophil degranulation, response to drug, Leydig cell differentiation, response to lipopolysaccharide, response to organonitrogen compound, xenobiotic metabolic process, 4 5 6 5 1 10 3 2 0 ENSG00000008405 chr12 106991364 107093829 - CRY1 protein_coding This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Jan 2014]. 1407 GO:0005739, GO:0005737, GO:0005634, GO:0005634, GO:0005634, mitochondrion, cytoplasm, nucleus, nucleus, nucleus, GO:0071949, GO:0070888, GO:0042826, GO:0035257, GO:0019902, GO:0019901, GO:0009882, GO:0005515, GO:0003914, GO:0003904, GO:0003690, GO:0003677, FAD binding, E-box binding, histone deacetylase binding, nuclear hormone receptor binding, phosphatase binding, protein kinase binding, blue light photoreceptor activity, protein binding, DNA (6-4) photolyase activity, deoxyribodipyrimidine photo-lyase activity, double-stranded DNA binding, DNA binding, GO:2000850, GO:2000323, GO:2000001, GO:0045892, GO:0045892, GO:0045892, GO:0045744, GO:0045721, GO:0043153, GO:0043153, GO:0042754, GO:0042752, GO:0042593, GO:0033762, GO:0032922, GO:0032922, GO:0032868, GO:0031398, GO:0031397, GO:0019915, GO:0018298, GO:0014823, GO:0009785, GO:0009416, GO:0007623, GO:0006975, GO:0006094, GO:0000122, negative regulation of glucocorticoid secretion, negative regulation of glucocorticoid receptor signaling pathway, regulation of DNA damage checkpoint, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of G protein-coupled receptor signaling pathway, negative regulation of gluconeogenesis, entrainment of circadian clock by photoperiod, entrainment of circadian clock by photoperiod, negative regulation of circadian rhythm, regulation of circadian rhythm, glucose homeostasis, response to glucagon, circadian regulation of gene expression, circadian regulation of gene expression, response to insulin, positive regulation of protein ubiquitination, negative regulation of protein ubiquitination, lipid storage, protein-chromophore linkage, response to activity, blue light signaling pathway, response to light stimulus, circadian rhythm, DNA damage induced protein phosphorylation, gluconeogenesis, negative regulation of transcription by RNA polymerase II, 320 242 517 277 272 313 226 110 198 ENSG00000008438 chr19 46019153 46023065 - PGLYRP1 protein_coding 8993 GO:1904724, GO:0097013, GO:0070062, GO:0035580, GO:0005576, GO:0005576, tertiary granule lumen, phagocytic vesicle lumen, extracellular exosome, specific granule lumen, extracellular region, extracellular region, GO:0042834, GO:0042834, GO:0016019, GO:0016019, GO:0008745, GO:0008270, peptidoglycan binding, peptidoglycan binding, peptidoglycan immune receptor activity, peptidoglycan immune receptor activity, N-acetylmuramoyl-L-alanine amidase activity, zinc ion binding, GO:0061844, GO:0051701, GO:0050830, GO:0050830, GO:0050728, GO:0045087, GO:0043312, GO:0032827, GO:0032689, GO:0031640, GO:0019730, GO:0016045, GO:0016045, GO:0009253, antimicrobial humoral immune response mediated by antimicrobial peptide, biological process involved in interaction with host, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, negative regulation of inflammatory response, innate immune response, neutrophil degranulation, negative regulation of natural killer cell differentiation involved in immune response, negative regulation of interferon-gamma production, killing of cells of other organism, antimicrobial humoral response, detection of bacterium, detection of bacterium, peptidoglycan catabolic process, 201 149 384 76 131 143 84 107 118 ENSG00000008441 chr19 12995608 13098796 + NFIX protein_coding The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]. 4784 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006366, GO:0006357, GO:0006260, GO:0000122, positive regulation of transcription by RNA polymerase II, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, DNA replication, negative regulation of transcription by RNA polymerase II, 6 6 20 21 10 22 10 12 12 ENSG00000008513 chr8 133454848 133571940 - ST3GAL1 protein_coding The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]. 6482 GO:1990676, GO:1990675, GO:0070062, GO:0032588, GO:0016021, GO:0016020, GO:0000139, Golgi trans cisterna membrane, Golgi medial cisterna membrane, extracellular exosome, trans-Golgi network membrane, integral component of membrane, membrane, Golgi membrane, GO:0003836, GO:0003836, GO:0003836, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, GO:1990743, GO:0097503, GO:0018146, GO:0016266, GO:0010706, GO:0006487, GO:0006468, GO:0006464, GO:0006054, protein sialylation, sialylation, keratan sulfate biosynthetic process, O-glycan processing, ganglioside biosynthetic process via lactosylceramide, protein N-linked glycosylation, protein phosphorylation, cellular protein modification process, N-acetylneuraminate metabolic process, 1018 1301 1545 812 1247 1177 897 876 1017 ENSG00000008516 chr16 3046681 3060726 + MMP25 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008]. 64386 GO:0035579, GO:0031225, GO:0031012, GO:0016021, GO:0016020, GO:0005886, specific granule membrane, anchored component of membrane, extracellular matrix, integral component of membrane, membrane, plasma membrane, GO:0008270, GO:0005515, GO:0004222, zinc ion binding, protein binding, metalloendopeptidase activity, GO:0060022, GO:0043312, GO:0030574, GO:0030198, GO:0006954, GO:0006508, hard palate development, neutrophil degranulation, collagen catabolic process, extracellular matrix organization, inflammatory response, proteolysis, 15202 16123 20629 11237 15185 15572 13045 12143 14369 ENSG00000008517 chr16 3065297 3082192 + IL32 protein_coding This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 9235 GO:0016020, GO:0005829, GO:0005615, membrane, cytosol, extracellular space, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0019221, GO:0007155, GO:0006955, GO:0006952, cytokine-mediated signaling pathway, cell adhesion, immune response, defense response, 252 214 453 907 398 1106 820 345 892 ENSG00000008710 chr16 2088710 2135898 - PKD1 protein_coding This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]. 5310 GO:0070062, GO:0070062, GO:0060170, GO:0034704, GO:0034703, GO:0031514, GO:0030660, GO:0016328, GO:0016323, GO:0016021, GO:0009986, GO:0005929, GO:0005929, GO:0005887, GO:0005886, GO:0005794, GO:0005783, GO:0005737, GO:0005634, GO:0002133, GO:0000139, extracellular exosome, extracellular exosome, ciliary membrane, calcium channel complex, cation channel complex, motile cilium, Golgi-associated vesicle membrane, lateral plasma membrane, basolateral plasma membrane, integral component of membrane, cell surface, cilium, cilium, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, cytoplasm, nucleus, polycystin complex, Golgi membrane, GO:0044325, GO:0042813, GO:0030246, GO:0019904, GO:0019901, GO:0005515, GO:0005262, GO:0005262, ion channel binding, Wnt-activated receptor activity, carbohydrate binding, protein domain specific binding, protein kinase binding, protein binding, calcium channel activity, calcium channel activity, GO:2000045, GO:0198738, GO:0072287, GO:0072237, GO:0072218, GO:0072205, GO:0072177, GO:0072164, GO:0070588, GO:0061136, GO:0060674, GO:0060428, GO:0060236, GO:0051290, GO:0051216, GO:0050982, GO:0048806, GO:0048754, GO:0048565, GO:0045944, GO:0045737, GO:0043588, GO:0042994, GO:0036303, GO:0034405, GO:0032092, GO:0030155, GO:0030010, GO:0021915, GO:0021510, GO:0018105, GO:0016055, GO:0009653, GO:0007507, GO:0007259, GO:0007204, GO:0007161, GO:0007160, GO:0007156, GO:0007050, GO:0006611, GO:0001892, GO:0001889, GO:0001822, GO:0001701, GO:0001502, regulation of G1/S transition of mitotic cell cycle, cell-cell signaling by wnt, metanephric distal tubule morphogenesis, metanephric proximal tubule development, metanephric ascending thin limb development, metanephric collecting duct development, mesonephric duct development, mesonephric tubule development, calcium ion transmembrane transport, regulation of proteasomal protein catabolic process, placenta blood vessel development, lung epithelium development, regulation of mitotic spindle organization, protein heterotetramerization, cartilage development, detection of mechanical stimulus, genitalia development, branching morphogenesis of an epithelial tube, digestive tract development, positive regulation of transcription by RNA polymerase II, positive regulation of cyclin-dependent protein serine/threonine kinase activity, skin development, cytoplasmic sequestering of transcription factor, lymph vessel morphogenesis, response to fluid shear stress, positive regulation of protein binding, regulation of cell adhesion, establishment of cell polarity, neural tube development, spinal cord development, peptidyl-serine phosphorylation, Wnt signaling pathway, anatomical structure morphogenesis, heart development, receptor signaling pathway via JAK-STAT, positive regulation of cytosolic calcium ion concentration, calcium-independent cell-matrix adhesion, cell-matrix adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, cell cycle arrest, protein export from nucleus, embryonic placenta development, liver development, kidney development, in utero embryonic development, cartilage condensation, 73 60 126 127 59 179 180 56 98 ENSG00000008735 chr22 50600685 50613981 + MAPK8IP2 protein_coding This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]. 23542 GO:0043025, GO:0032991, GO:0014069, GO:0005737, GO:0005737, neuronal cell body, protein-containing complex, postsynaptic density, cytoplasm, cytoplasm, GO:0044877, GO:0019901, GO:0019894, GO:0005515, GO:0005198, GO:0005078, GO:0005078, GO:0001540, protein-containing complex binding, protein kinase binding, kinesin binding, protein binding, structural molecule activity, MAP-kinase scaffold activity, MAP-kinase scaffold activity, amyloid-beta binding, GO:2001234, GO:2000311, GO:2000310, GO:0060079, GO:0051966, GO:0048813, GO:0046958, GO:0046328, GO:0046328, GO:0035176, GO:0032874, GO:0010469, GO:0007617, GO:0007254, GO:0007172, GO:0001662, negative regulation of apoptotic signaling pathway, regulation of AMPA receptor activity, regulation of NMDA receptor activity, excitatory postsynaptic potential, regulation of synaptic transmission, glutamatergic, dendrite morphogenesis, nonassociative learning, regulation of JNK cascade, regulation of JNK cascade, social behavior, positive regulation of stress-activated MAPK cascade, regulation of signaling receptor activity, mating behavior, JNK cascade, signal complex assembly, behavioral fear response, 5 6 1 1 5 9 3 3 0 ENSG00000008838 chr17 40019097 40061215 - MED24 protein_coding This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9862 GO:0016592, GO:0016592, GO:0005654, GO:0005634, mediator complex, mediator complex, nucleoplasm, nucleus, GO:0046966, GO:0042809, GO:0030374, GO:0005515, GO:0003713, GO:0003712, GO:0003712, thyroid hormone receptor binding, vitamin D receptor binding, nuclear receptor coactivator activity, protein binding, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, GO:0060261, GO:0045893, GO:0006367, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription, DNA-templated, transcription initiation from RNA polymerase II promoter, 29 30 61 76 26 77 76 20 62 ENSG00000008853 chr8 22987417 23020199 + RHOBTB2 protein_coding The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 23221 GO:0043231, GO:0042995, GO:0031410, GO:0005938, GO:0005886, GO:0005886, GO:0005856, GO:0005829, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, cell cortex, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0019901, GO:0005525, GO:0005515, GO:0003924, protein kinase binding, GTP binding, protein binding, GTPase activity, GO:0051056, GO:0043652, GO:0032956, GO:0030865, GO:0008360, GO:0007264, GO:0007163, GO:0007015, regulation of small GTPase mediated signal transduction, engulfment of apoptotic cell, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, regulation of cell shape, small GTPase mediated signal transduction, establishment or maintenance of cell polarity, actin filament organization, 26 21 31 26 21 51 13 13 48 ENSG00000008869 chr2 36968383 37084342 - HEATR5B protein_coding 54497 GO:0030139, GO:0016020, GO:0005829, endocytic vesicle, membrane, cytosol, GO:0005515, protein binding, GO:0042147, GO:0008104, GO:0006897, retrograde transport, endosome to Golgi, protein localization, endocytosis, 295 326 388 330 281 505 344 258 289 ENSG00000008952 chr3 169966635 169998373 + SEC62 protein_coding The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]. 7095 GO:0030176, GO:0016021, GO:0016020, GO:0016020, GO:0005829, GO:0005791, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, membrane, cytosol, rough endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0038023, signaling receptor activity, GO:0031204, GO:0031204, GO:0006620, GO:0006613, posttranslational protein targeting to membrane, translocation, posttranslational protein targeting to membrane, translocation, posttranslational protein targeting to endoplasmic reticulum membrane, cotranslational protein targeting to membrane, 1437 1093 1714 623 533 601 511 486 422 ENSG00000008988 chr8 56067295 56074581 - RPS20 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009]. 6224 GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0005829, GO:0005654, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, cytosol, nucleoplasm, GO:0005515, GO:0003735, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 701 542 1047 2184 934 2470 1322 866 1582 ENSG00000009307 chr1 114716913 114758676 - CSDE1 protein_coding 7812 GO:0070937, GO:0010494, GO:0005886, GO:0005829, GO:0005794, GO:0000932, CRD-mediated mRNA stability complex, cytoplasmic stress granule, plasma membrane, cytosol, Golgi apparatus, P-body, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0070966, GO:0034063, GO:0008584, nuclear-transcribed mRNA catabolic process, no-go decay, stress granule assembly, male gonad development, 6045 6062 7538 2639 3274 3263 2676 2927 2802 ENSG00000009335 chr7 157138913 157269372 + UBE3C protein_coding 9690 GO:0005634, GO:0000502, nucleus, proteasome complex, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0006511, GO:0000209, GO:0000209, ubiquitin-dependent protein catabolic process, protein polyubiquitination, protein polyubiquitination, 324 327 396 287 327 330 305 217 285 ENSG00000009413 chr6 111299028 111483715 - REV3L protein_coding The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]. 5980 GO:0016035, GO:0016035, GO:0005730, GO:0005654, GO:0005634, zeta DNA polymerase complex, zeta DNA polymerase complex, nucleolus, nucleoplasm, nucleus, GO:0051539, GO:0046872, GO:0008408, GO:0005515, GO:0003887, GO:0003677, GO:0000166, 4 iron, 4 sulfur cluster binding, metal ion binding, 3'-5' exonuclease activity, protein binding, DNA-directed DNA polymerase activity, DNA binding, nucleotide binding, GO:0090305, GO:0042276, GO:0042276, GO:0006261, GO:0000724, nucleic acid phosphodiester bond hydrolysis, error-prone translesion synthesis, error-prone translesion synthesis, DNA-dependent DNA replication, double-strand break repair via homologous recombination, 773 760 808 352 380 343 475 317 329 ENSG00000009694 chrX 124375903 124963817 - TENM1 protein_coding The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 10178 GO:0048471, GO:0043005, GO:0016607, GO:0016363, GO:0005887, GO:0005886, GO:0005856, GO:0005794, GO:0005783, GO:0005737, GO:0005634, GO:0005576, perinuclear region of cytoplasm, neuron projection, nuclear speck, nuclear matrix, integral component of plasma membrane, plasma membrane, cytoskeleton, Golgi apparatus, endoplasmic reticulum, cytoplasm, nucleus, extracellular region, GO:0050839, GO:0046982, GO:0046982, GO:0042803, GO:0042803, GO:0008201, cell adhesion molecule binding, protein heterodimerization activity, protein heterodimerization activity, protein homodimerization activity, protein homodimerization activity, heparin binding, GO:0090316, GO:0051491, GO:0048666, GO:0043406, GO:0033138, GO:0030838, GO:0008285, GO:0007399, GO:0007218, GO:0007157, GO:0006955, GO:0006359, positive regulation of intracellular protein transport, positive regulation of filopodium assembly, neuron development, positive regulation of MAP kinase activity, positive regulation of peptidyl-serine phosphorylation, positive regulation of actin filament polymerization, negative regulation of cell population proliferation, nervous system development, neuropeptide signaling pathway, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, immune response, regulation of transcription by RNA polymerase III, 20 12 31 61 7 103 74 9 43 ENSG00000009709 chr1 18631006 18748866 + PAX7 protein_coding This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 5081 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000288, GO:0060415, GO:0051216, GO:0051101, GO:0048856, GO:0048706, GO:0048663, GO:0045944, GO:0043403, GO:0043066, GO:0031062, GO:0021904, GO:0021527, GO:0014813, GO:0010453, GO:0009653, GO:0006357, GO:0006338, positive regulation of myoblast proliferation, muscle tissue morphogenesis, cartilage development, regulation of DNA binding, anatomical structure development, embryonic skeletal system development, neuron fate commitment, positive regulation of transcription by RNA polymerase II, skeletal muscle tissue regeneration, negative regulation of apoptotic process, positive regulation of histone methylation, dorsal/ventral neural tube patterning, spinal cord association neuron differentiation, skeletal muscle satellite cell commitment, regulation of cell fate commitment, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, chromatin remodeling, 0 0 0 0 0 0 0 0 0 ENSG00000009724 chr1 11026523 11047233 - MASP2 protein_coding This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 10747 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0048306, GO:0008233, GO:0005515, GO:0005509, GO:0004252, GO:0004252, GO:0001855, calcium-dependent protein binding, peptidase activity, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, complement component C4b binding, GO:0006958, GO:0006956, GO:0006508, GO:0001867, GO:0001867, GO:0001867, complement activation, classical pathway, complement activation, proteolysis, complement activation, lectin pathway, complement activation, lectin pathway, complement activation, lectin pathway, 16 31 27 23 21 13 15 15 24 ENSG00000009765 chr6 150368892 150405969 + IYD protein_coding This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 389434 GO:0030659, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005654, cytoplasmic vesicle membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0016491, GO:0016491, GO:0010181, GO:0005515, GO:0004447, oxidoreductase activity, oxidoreductase activity, FMN binding, protein binding, iodide peroxidase activity, GO:0098869, GO:0055114, GO:0042403, GO:0042403, GO:0006590, GO:0006570, GO:0006570, cellular oxidant detoxification, oxidation-reduction process, thyroid hormone metabolic process, thyroid hormone metabolic process, thyroid hormone generation, tyrosine metabolic process, tyrosine metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000009780 chr1 27725979 27763122 + FAM76A protein_coding 199870 GO:0005654, nucleoplasm, 60 65 51 60 62 65 41 72 55 ENSG00000009790 chr1 209756032 209782320 + TRAF3IP3 protein_coding The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 80342 GO:0016021, integral component of membrane, GO:0005515, protein binding, 4458 4340 5443 1737 1760 2257 2496 1535 1887 ENSG00000009830 chr14 77274956 77320884 - POMT2 protein_coding The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]. 29954 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0046872, GO:0004169, GO:0000030, metal ion binding, dolichyl-phosphate-mannose-protein mannosyltransferase activity, mannosyltransferase activity, GO:1904100, GO:0071712, GO:0035269, GO:0035269, GO:0006493, positive regulation of protein O-linked glycosylation, ER-associated misfolded protein catabolic process, protein O-linked mannosylation, protein O-linked mannosylation, protein O-linked glycosylation, 36 55 57 46 75 51 60 57 33 ENSG00000009844 chr6 142147162 142224689 + VTA1 protein_coding C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]. 51534 GO:0070062, GO:0043231, GO:0010008, GO:0005829, GO:0005829, GO:0005771, GO:0005654, extracellular exosome, intracellular membrane-bounded organelle, endosome membrane, cytosol, cytosol, multivesicular body, nucleoplasm, GO:0008022, GO:0005515, protein C-terminus binding, protein binding, GO:1904903, GO:0071985, GO:0046755, GO:0036258, GO:0032511, GO:0019058, GO:0016236, GO:0016197, GO:0015031, ESCRT III complex disassembly, multivesicular body sorting pathway, viral budding, multivesicular body assembly, late endosome to vacuole transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, protein transport, 117 82 109 114 181 135 118 110 82 ENSG00000009950 chr7 73593194 73624543 - MLXIPL protein_coding This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 51085 GO:0005829, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, cytosol, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:0046982, GO:0042803, GO:0035538, GO:0008134, GO:0003700, GO:0003677, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, protein heterodimerization activity, protein homodimerization activity, carbohydrate response element binding, transcription factor binding, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097009, GO:0090324, GO:0071157, GO:0070328, GO:0055089, GO:0046889, GO:0045944, GO:0045893, GO:0045892, GO:0045821, GO:0045723, GO:0042593, GO:0035556, GO:0033137, GO:0010255, GO:0009653, GO:0008284, GO:0006357, GO:0006355, GO:0000122, energy homeostasis, negative regulation of oxidative phosphorylation, negative regulation of cell cycle arrest, triglyceride homeostasis, fatty acid homeostasis, positive regulation of lipid biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of glycolytic process, positive regulation of fatty acid biosynthetic process, glucose homeostasis, intracellular signal transduction, negative regulation of peptidyl-serine phosphorylation, glucose mediated signaling pathway, anatomical structure morphogenesis, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000009954 chr7 73440398 73522278 - BAZ1B protein_coding This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]. 9031 GO:0043596, GO:0016604, GO:0005654, nuclear replication fork, nuclear body, nucleoplasm, GO:0035173, GO:0008270, GO:0005524, GO:0005515, GO:0004715, GO:0004713, histone kinase activity, zinc ion binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0045815, GO:0018108, GO:0016572, GO:0006974, GO:0006357, GO:0006338, positive regulation of gene expression, epigenetic, peptidyl-tyrosine phosphorylation, histone phosphorylation, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, chromatin remodeling, 251 272 295 239 200 255 247 177 187 ENSG00000010017 chr6 13621498 13711564 - RANBP9 protein_coding This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]. 10048 GO:0005886, GO:0005875, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0000151, plasma membrane, microtubule associated complex, cytosol, cytoplasm, cytoplasm, nucleus, ubiquitin ligase complex, GO:0031267, GO:0019899, GO:0005515, small GTPase binding, enzyme binding, protein binding, GO:1902993, GO:0070373, GO:0065003, GO:0007411, GO:0007166, GO:0007020, GO:0007010, GO:0000165, positive regulation of amyloid precursor protein catabolic process, negative regulation of ERK1 and ERK2 cascade, protein-containing complex assembly, axon guidance, cell surface receptor signaling pathway, microtubule nucleation, cytoskeleton organization, MAPK cascade, 461 363 586 370 365 556 379 319 411 ENSG00000010030 chr6 36354091 36387800 - ETV7 protein_coding The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]. 51513 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0030154, GO:0009887, GO:0006366, GO:0006357, GO:0000122, cell differentiation, animal organ morphogenesis, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 64 40 61 33 29 54 40 24 22 ENSG00000010072 chr1 231337104 231355023 + SPRTN protein_coding The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]. 83932 GO:0016607, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear speck, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0070530, GO:0046872, GO:0043130, GO:0031593, GO:0005515, GO:0004222, GO:0003697, GO:0003690, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, ubiquitin binding, polyubiquitin modification-dependent protein binding, protein binding, metalloendopeptidase activity, single-stranded DNA binding, double-stranded DNA binding, GO:0106300, GO:0070987, GO:0031398, GO:0019985, GO:0019985, GO:0016540, GO:0009411, GO:0006974, GO:0006974, GO:0006508, protein-DNA covalent cross-linking repair, error-free translesion synthesis, positive regulation of protein ubiquitination, translesion synthesis, translesion synthesis, protein autoprocessing, response to UV, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, proteolysis, 398 380 474 187 365 298 255 276 356 ENSG00000010165 chr1 171781664 171814023 + METTL13 protein_coding 51603 GO:0008168, GO:0005515, methyltransferase activity, protein binding, GO:0032259, methylation, 40 45 33 42 35 74 39 29 33 ENSG00000010219 chr12 4562204 4615302 + DYRK4 protein_coding This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]. 8798 GO:0043231, GO:0005856, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, cytoskeleton, cytoplasm, nucleus, GO:0046872, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, metal ion binding, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, GO:0018108, GO:0018107, GO:0018105, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, 5 4 7 13 8 12 13 5 23 ENSG00000010244 chr17 32350117 32381886 + ZNF207 protein_coding 7756 GO:1990047, GO:1990047, GO:0005874, GO:0005819, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000777, GO:0000776, GO:0000776, GO:0000776, spindle matrix, spindle matrix, microtubule, spindle, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, condensed chromosome kinetochore, kinetochore, kinetochore, kinetochore, GO:0046872, GO:0008201, GO:0008017, GO:0008017, GO:0005515, GO:0003723, GO:0003677, metal ion binding, heparin binding, microtubule binding, microtubule binding, protein binding, RNA binding, DNA binding, GO:0090307, GO:0090307, GO:0051983, GO:0051301, GO:0050821, GO:0046785, GO:0008608, GO:0008608, GO:0007094, GO:0007094, GO:0001578, GO:0000070, mitotic spindle assembly, mitotic spindle assembly, regulation of chromosome segregation, cell division, protein stabilization, microtubule polymerization, attachment of spindle microtubules to kinetochore, attachment of spindle microtubules to kinetochore, mitotic spindle assembly checkpoint, mitotic spindle assembly checkpoint, microtubule bundle formation, mitotic sister chromatid segregation, 1737 1880 2544 1447 1434 1896 1728 1175 1538 ENSG00000010256 chr3 48599002 48610976 - UQCRC1 protein_coding 7384 GO:0005829, GO:0005750, GO:0005746, GO:0005743, GO:0005739, GO:0005739, GO:0005739, cytosol, mitochondrial respiratory chain complex III, mitochondrial respirasome, mitochondrial inner membrane, mitochondrion, mitochondrion, mitochondrion, GO:0046872, GO:0044877, GO:0031625, GO:0008121, GO:0005515, metal ion binding, protein-containing complex binding, ubiquitin protein ligase binding, ubiquinol-cytochrome-c reductase activity, protein binding, GO:0055114, GO:0043279, GO:0014823, GO:0009060, GO:0006122, GO:0006119, oxidation-reduction process, response to alkaloid, response to activity, aerobic respiration, mitochondrial electron transport, ubiquinol to cytochrome c, oxidative phosphorylation, 196 191 272 134 205 202 134 144 174 ENSG00000010270 chr7 38178222 38230671 + STARD3NL protein_coding This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]. 83930 GO:0140284, GO:0044232, GO:0043231, GO:0031902, GO:0016021, GO:0016020, GO:0005829, GO:0005789, GO:0005768, GO:0005765, endoplasmic reticulum-endosome membrane contact site, organelle membrane contact site, intracellular membrane-bounded organelle, late endosome membrane, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, endosome, lysosomal membrane, GO:0042803, GO:0015485, GO:0005515, protein homodimerization activity, cholesterol binding, protein binding, GO:0099044, GO:0006700, vesicle tethering to endoplasmic reticulum, C21-steroid hormone biosynthetic process, 293 237 397 159 207 214 215 208 279 ENSG00000010278 chr12 6199715 6238271 + CD9 protein_coding This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]. 928 GO:1903561, GO:0070062, GO:0070062, GO:0032991, GO:0031092, GO:0030669, GO:0030666, GO:0016324, GO:0016020, GO:0009897, GO:0005925, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005615, extracellular vesicle, extracellular exosome, extracellular exosome, protein-containing complex, platelet alpha granule membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, apical plasma membrane, membrane, external side of plasma membrane, focal adhesion, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0005515, GO:0005178, protein binding, integrin binding, GO:1905521, GO:0090331, GO:0071404, GO:0051271, GO:0035036, GO:0031623, GO:0030913, GO:0030168, GO:0014905, GO:0014003, GO:0009414, GO:0008347, GO:0008285, GO:0007420, GO:0007342, GO:0007342, GO:0007155, GO:0002576, regulation of macrophage migration, negative regulation of platelet aggregation, cellular response to low-density lipoprotein particle stimulus, negative regulation of cellular component movement, sperm-egg recognition, receptor internalization, paranodal junction assembly, platelet activation, myoblast fusion involved in skeletal muscle regeneration, oligodendrocyte development, response to water deprivation, glial cell migration, negative regulation of cell population proliferation, brain development, fusion of sperm to egg plasma membrane involved in single fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, cell adhesion, platelet degranulation, 109 102 261 16 8 63 13 16 65 ENSG00000010282 chr3 42692663 42702827 - HHATL protein_coding 57467 GO:0048471, GO:0016021, GO:0005789, GO:0005783, GO:0005783, perinuclear region of cytoplasm, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0016746, GO:0005515, transferase activity, transferring acyl groups, protein binding, GO:0060262, GO:0060262, negative regulation of N-terminal protein palmitoylation, negative regulation of N-terminal protein palmitoylation, 3 5 2 9 9 4 4 3 2 ENSG00000010292 chr12 6493356 6531955 + NCAPD2 protein_coding 9918 GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0000796, GO:0000793, GO:0000779, GO:0000228, membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, condensin complex, condensed chromosome, condensed chromosome, centromeric region, nuclear chromosome, GO:0042393, GO:0042393, GO:0042393, GO:0005515, GO:0003682, histone binding, histone binding, histone binding, protein binding, chromatin binding, GO:0051304, GO:0051301, GO:0010032, GO:0007076, GO:0007076, GO:0007076, GO:0007076, chromosome separation, cell division, meiotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, 290 300 656 247 245 401 284 138 331 ENSG00000010295 chr12 6538375 6556083 - IFFO1 protein_coding This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 25900 GO:0016363, GO:0005882, GO:0005654, nuclear matrix, intermediate filament, nucleoplasm, 216 311 214 218 400 302 251 318 223 ENSG00000010310 chr19 45668244 45683724 + GIPR protein_coding This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011]. 2696 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0017046, GO:0016519, GO:0008528, GO:0005515, GO:0004888, peptide hormone binding, gastric inhibitory peptide receptor activity, G protein-coupled peptide receptor activity, protein binding, transmembrane signaling receptor activity, GO:0070542, GO:0051592, GO:0050796, GO:0048678, GO:0043950, GO:0038192, GO:0032024, GO:0031018, GO:0009749, GO:0007584, GO:0007204, GO:0007190, GO:0007188, GO:0007186, GO:0007166, GO:0006091, GO:0002029, response to fatty acid, response to calcium ion, regulation of insulin secretion, response to axon injury, positive regulation of cAMP-mediated signaling, gastric inhibitory peptide signaling pathway, positive regulation of insulin secretion, endocrine pancreas development, response to glucose, response to nutrient, positive regulation of cytosolic calcium ion concentration, activation of adenylate cyclase activity, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, generation of precursor metabolites and energy, desensitization of G protein-coupled receptor signaling pathway, 4 18 44 9 5 20 9 2 3 ENSG00000010318 chr3 52410657 52423641 + PHF7 protein_coding Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. 51533 GO:0016607, GO:0005886, GO:0005829, GO:0005794, GO:0005654, GO:0005634, GO:0005634, nuclear speck, plasma membrane, cytosol, Golgi apparatus, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, 23 29 34 71 78 93 79 55 60 ENSG00000010319 chr3 52433053 52445085 - SEMA3G protein_coding The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]. 56920 GO:0070062, GO:0005887, GO:0005615, extracellular exosome, integral component of plasma membrane, extracellular space, GO:0045499, GO:0030215, GO:0005515, GO:0005102, chemorepellent activity, semaphorin receptor binding, protein binding, signaling receptor binding, GO:0071526, GO:0050919, GO:0048843, GO:0030517, GO:0030335, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, negative regulation of axon extension, positive regulation of cell migration, axon guidance, neural crest cell migration, 0 3 0 3 2 8 2 2 0 ENSG00000010322 chr3 52455118 52493071 + NISCH protein_coding This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013]. 11188 GO:0055037, GO:0016020, GO:0005886, GO:0005829, GO:0005769, GO:0005737, recycling endosome, membrane, plasma membrane, cytosol, early endosome, cytoplasm, GO:0042802, GO:0035091, GO:0019901, GO:0005515, GO:0005178, identical protein binding, phosphatidylinositol binding, protein kinase binding, protein binding, integrin binding, GO:0048243, GO:0032228, GO:0030336, GO:0030036, GO:0016601, GO:0008217, GO:0006915, GO:0006006, norepinephrine secretion, regulation of synaptic transmission, GABAergic, negative regulation of cell migration, actin cytoskeleton organization, Rac protein signal transduction, regulation of blood pressure, apoptotic process, glucose metabolic process, 549 729 758 663 876 770 743 633 668 ENSG00000010327 chr3 52495338 52524495 + STAB1 protein_coding This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]. 23166 GO:0030666, GO:0005887, GO:0005886, endocytic vesicle membrane, integral component of plasma membrane, plasma membrane, GO:0030169, GO:0015035, GO:0005540, GO:0005515, GO:0005509, GO:0005044, GO:0005041, low-density lipoprotein particle binding, protein disulfide oxidoreductase activity, hyaluronic acid binding, protein binding, calcium ion binding, scavenger receptor activity, low-density lipoprotein particle receptor activity, GO:0055114, GO:0042742, GO:0016525, GO:0007267, GO:0007155, GO:0006954, GO:0006898, oxidation-reduction process, defense response to bacterium, negative regulation of angiogenesis, cell-cell signaling, cell adhesion, inflammatory response, receptor-mediated endocytosis, 20 11 47 21 53 59 17 21 60 ENSG00000010361 chr19 49806869 49817376 - FUZ protein_coding This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]. 80199 GO:0070062, GO:0042995, GO:0005856, GO:0005737, extracellular exosome, cell projection, cytoskeleton, cytoplasm, GO:0005515, protein binding, GO:2000314, GO:1905515, GO:1905515, GO:0090301, GO:0090090, GO:0060271, GO:0048704, GO:0045724, GO:0030336, GO:0016192, GO:0015031, GO:0010172, GO:0008589, GO:0008285, GO:0001942, GO:0001843, GO:0001843, GO:0001736, negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation, non-motile cilium assembly, non-motile cilium assembly, negative regulation of neural crest formation, negative regulation of canonical Wnt signaling pathway, cilium assembly, embryonic skeletal system morphogenesis, positive regulation of cilium assembly, negative regulation of cell migration, vesicle-mediated transport, protein transport, embryonic body morphogenesis, regulation of smoothened signaling pathway, negative regulation of cell population proliferation, hair follicle development, neural tube closure, neural tube closure, establishment of planar polarity, 333 500 406 408 647 475 440 475 420 ENSG00000010379 chr12 220621 262873 - SLC6A13 protein_coding 6540 GO:0070062, GO:0043005, GO:0016323, GO:0005887, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, neuron projection, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0042165, GO:0015185, GO:0015171, GO:0008028, GO:0005368, GO:0005332, GO:0005308, neurotransmitter binding, gamma-aminobutyric acid transmembrane transporter activity, amino acid transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, taurine transmembrane transporter activity, gamma-aminobutyric acid:sodium symporter activity, creatine transmembrane transporter activity, GO:0150104, GO:0089718, GO:0071705, GO:0071705, GO:0051939, GO:0035725, GO:0015881, GO:0015734, GO:0015718, GO:0010940, GO:0006836, transport across blood-brain barrier, amino acid import across plasma membrane, nitrogen compound transport, nitrogen compound transport, gamma-aminobutyric acid import, sodium ion transmembrane transport, creatine transmembrane transport, taurine transport, monocarboxylic acid transport, positive regulation of necrotic cell death, neurotransmitter transport, 7 7 2 2 11 22 4 1 3 ENSG00000010404 chrX 149476990 149521096 - IDS protein_coding This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 3423 GO:0043202, GO:0005764, lysosomal lumen, lysosome, GO:0008484, GO:0005509, GO:0004423, GO:0004423, sulfuric ester hydrolase activity, calcium ion binding, iduronate-2-sulfatase activity, iduronate-2-sulfatase activity, GO:0030207, GO:0006027, GO:0006027, chondroitin sulfate catabolic process, glycosaminoglycan catabolic process, glycosaminoglycan catabolic process, 8437 9338 9693 1941 3967 2750 2697 3736 2764 ENSG00000010438 chr9 33750466 33799231 + PRSS3 protein_coding This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2010]. 5646 GO:1904724, GO:0005615, GO:0005615, GO:0005576, tertiary granule lumen, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0005509, GO:0004252, GO:0004252, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0043542, GO:0043312, GO:0031638, GO:0019730, GO:0009235, GO:0007586, GO:0006508, GO:0006508, GO:0006508, endothelial cell migration, neutrophil degranulation, zymogen activation, antimicrobial humoral response, cobalamin metabolic process, digestion, proteolysis, proteolysis, proteolysis, 0 0 2 0 0 3 2 0 0 ENSG00000010539 chr16 3222325 3236221 - ZNF200 protein_coding 7752 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003674, metal ion binding, protein binding, molecular_function, GO:0008150, biological_process, 1461 1374 1527 456 620 472 402 380 275 ENSG00000010610 chr12 6786858 6820808 + CD4 protein_coding This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]. 920 GO:0045121, GO:0045121, GO:0042101, GO:0030665, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005788, GO:0005769, membrane raft, membrane raft, T cell receptor complex, clathrin-coated vesicle membrane, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, early endosome, GO:1990782, GO:1990782, GO:0042803, GO:0042802, GO:0042289, GO:0042289, GO:0042289, GO:0042289, GO:0042012, GO:0042011, GO:0038023, GO:0019901, GO:0019899, GO:0019865, GO:0015026, GO:0008270, GO:0005515, GO:0005201, GO:0004888, GO:0001618, protein tyrosine kinase binding, protein tyrosine kinase binding, protein homodimerization activity, identical protein binding, MHC class II protein binding, MHC class II protein binding, MHC class II protein binding, MHC class II protein binding, interleukin-16 receptor activity, interleukin-16 binding, signaling receptor activity, protein kinase binding, enzyme binding, immunoglobulin binding, coreceptor activity, zinc ion binding, protein binding, extracellular matrix structural constituent, transmembrane signaling receptor activity, virus receptor activity, GO:0097011, GO:0070374, GO:0070374, GO:0061024, GO:0051924, GO:0050863, GO:0050852, GO:0050850, GO:0050829, GO:0050731, GO:0050690, GO:0046598, GO:0045893, GO:0045860, GO:0045657, GO:0045058, GO:0043410, GO:0043123, GO:0042110, GO:0042102, GO:0035723, GO:0035723, GO:0035397, GO:0033674, GO:0033280, GO:0032743, GO:0032507, GO:0032355, GO:0030225, GO:0030217, GO:0019221, GO:0019064, GO:0010524, GO:0007169, GO:0007167, GO:0007166, GO:0007155, GO:0006955, GO:0006948, GO:0002250, GO:0001934, GO:0001816, cellular response to granulocyte macrophage colony-stimulating factor stimulus, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, membrane organization, regulation of calcium ion transport, regulation of T cell activation, T cell receptor signaling pathway, positive regulation of calcium-mediated signaling, defense response to Gram-negative bacterium, positive regulation of peptidyl-tyrosine phosphorylation, regulation of defense response to virus by virus, positive regulation of viral entry into host cell, positive regulation of transcription, DNA-templated, positive regulation of protein kinase activity, positive regulation of monocyte differentiation, T cell selection, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, T cell activation, positive regulation of T cell proliferation, interleukin-15-mediated signaling pathway, interleukin-15-mediated signaling pathway, helper T cell enhancement of adaptive immune response, positive regulation of kinase activity, response to vitamin D, positive regulation of interleukin-2 production, maintenance of protein location in cell, response to estradiol, macrophage differentiation, T cell differentiation, cytokine-mediated signaling pathway, fusion of virus membrane with host plasma membrane, positive regulation of calcium ion transport into cytosol, transmembrane receptor protein tyrosine kinase signaling pathway, enzyme linked receptor protein signaling pathway, cell surface receptor signaling pathway, cell adhesion, immune response, induction by virus of host cell-cell fusion, adaptive immune response, positive regulation of protein phosphorylation, cytokine production, 519 279 310 441 210 500 515 190 331 ENSG00000010626 chr12 6873569 6914243 + LRRC23 protein_coding 10233 GO:0005829, GO:0005737, GO:0005575, cytosol, cytoplasm, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 6 12 13 13 18 24 15 20 21 ENSG00000010671 chrX 101349447 101390796 - BTK protein_coding The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]. 695 GO:0045121, GO:0031410, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005634, membrane raft, cytoplasmic vesicle, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, nucleus, GO:0046872, GO:0042802, GO:0005547, GO:0005524, GO:0005515, GO:0004715, GO:0004713, GO:0004713, metal ion binding, identical protein binding, phosphatidylinositol-3,4,5-trisphosphate binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0098761, GO:0097190, GO:0051092, GO:0050853, GO:0048469, GO:0045579, GO:0045087, GO:0042113, GO:0038095, GO:0035556, GO:0030889, GO:0019722, GO:0018108, GO:0007498, GO:0007249, GO:0007186, GO:0006468, GO:0002902, GO:0002755, GO:0002721, GO:0002344, GO:0002250, GO:0001818, cellular response to interleukin-7, apoptotic signaling pathway, positive regulation of NF-kappaB transcription factor activity, B cell receptor signaling pathway, cell maturation, positive regulation of B cell differentiation, innate immune response, B cell activation, Fc-epsilon receptor signaling pathway, intracellular signal transduction, negative regulation of B cell proliferation, calcium-mediated signaling, peptidyl-tyrosine phosphorylation, mesoderm development, I-kappaB kinase/NF-kappaB signaling, G protein-coupled receptor signaling pathway, protein phosphorylation, regulation of B cell apoptotic process, MyD88-dependent toll-like receptor signaling pathway, regulation of B cell cytokine production, B cell affinity maturation, adaptive immune response, negative regulation of cytokine production, 345 456 457 321 687 444 294 503 281 ENSG00000010704 chr6 26087281 26098343 + HFE protein_coding The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 3077 GO:1990712, GO:1990357, GO:0055037, GO:0048471, GO:0045178, GO:0045177, GO:0042612, GO:0042612, GO:0031410, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005769, GO:0005654, GO:0005615, GO:0005615, HFE-transferrin receptor complex, terminal web, recycling endosome, perinuclear region of cytoplasm, basal part of cell, apical part of cell, MHC class I protein complex, MHC class I protein complex, cytoplasmic vesicle, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, early endosome, nucleoplasm, extracellular space, extracellular space, GO:1990459, GO:1990459, GO:0042605, GO:0042605, GO:0039706, GO:0030881, GO:0005515, GO:0005102, transferrin receptor binding, transferrin receptor binding, peptide antigen binding, peptide antigen binding, co-receptor binding, beta-2-microglobulin binding, protein binding, signaling receptor binding, GO:2001186, GO:2000273, GO:2000272, GO:2000059, GO:2000008, GO:1990641, GO:1904437, GO:1904434, GO:1904283, GO:1900122, GO:1900121, GO:0098711, GO:0097421, GO:0090277, GO:0071281, GO:0065003, GO:0060586, GO:0055072, GO:0055072, GO:0048260, GO:0042446, GO:0034756, GO:0034756, GO:0033572, GO:0032435, GO:0032092, GO:0030509, GO:0019882, GO:0010862, GO:0010628, GO:0010106, GO:0010039, GO:0007565, GO:0006953, GO:0006879, GO:0002725, GO:0002626, GO:0002474, negative regulation of CD8-positive, alpha-beta T cell activation, positive regulation of signaling receptor activity, negative regulation of signaling receptor activity, negative regulation of ubiquitin-dependent protein catabolic process, regulation of protein localization to cell surface, response to iron ion starvation, positive regulation of transferrin receptor binding, positive regulation of ferrous iron binding, negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I, positive regulation of receptor binding, negative regulation of receptor binding, iron ion import across plasma membrane, liver regeneration, positive regulation of peptide hormone secretion, cellular response to iron ion, protein-containing complex assembly, multicellular organismal iron ion homeostasis, iron ion homeostasis, iron ion homeostasis, positive regulation of receptor-mediated endocytosis, hormone biosynthetic process, regulation of iron ion transport, regulation of iron ion transport, transferrin transport, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, BMP signaling pathway, antigen processing and presentation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of gene expression, cellular response to iron ion starvation, response to iron ion, female pregnancy, acute-phase response, cellular iron ion homeostasis, negative regulation of T cell cytokine production, negative regulation of T cell antigen processing and presentation, antigen processing and presentation of peptide antigen via MHC class I, 59 79 60 100 103 69 70 55 40 ENSG00000010803 chr1 41027200 41242154 - SCMH1 protein_coding 22955 GO:0010369, GO:0005654, GO:0005634, chromocenter, nucleoplasm, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0045892, GO:0045892, GO:0016458, GO:0009952, GO:0007283, GO:0006338, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, gene silencing, anterior/posterior pattern specification, spermatogenesis, chromatin remodeling, 22 18 28 28 15 44 27 14 15 ENSG00000010810 chr6 111660332 111873452 - FYN protein_coding This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]. 2534 GO:0098685, GO:0097386, GO:0097038, GO:0048471, GO:0045121, GO:0045121, GO:0045121, GO:0045121, GO:0044297, GO:0031234, GO:0030425, GO:0014069, GO:0005886, GO:0005886, GO:0005884, GO:0005829, GO:0005829, GO:0005768, GO:0005739, GO:0005634, Schaffer collateral - CA1 synapse, glial cell projection, perinuclear endoplasmic reticulum, perinuclear region of cytoplasm, membrane raft, membrane raft, membrane raft, membrane raft, cell body, extrinsic component of cytoplasmic side of plasma membrane, dendrite, postsynaptic density, plasma membrane, plasma membrane, actin filament, cytosol, cytosol, endosome, mitochondrion, nucleus, GO:0097718, GO:0070851, GO:0051428, GO:0050321, GO:0048156, GO:0048156, GO:0048156, GO:0046875, GO:0046872, GO:0044325, GO:0043548, GO:0043014, GO:0042802, GO:0042610, GO:0042609, GO:0042608, GO:0031802, GO:0019899, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004715, GO:0004713, GO:0004713, GO:0004713, GO:0004713, disordered domain specific binding, growth factor receptor binding, peptide hormone receptor binding, tau-protein kinase activity, tau protein binding, tau protein binding, tau protein binding, ephrin receptor binding, metal ion binding, ion channel binding, phosphatidylinositol 3-kinase binding, alpha-tubulin binding, identical protein binding, CD8 receptor binding, CD4 receptor binding, T cell receptor binding, type 5 metabotropic glutamate receptor binding, enzyme binding, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2001240, GO:2001056, GO:1905664, GO:1905477, GO:1905430, GO:1905232, GO:1904646, GO:1904645, GO:1903997, GO:1903202, GO:1902951, GO:1901216, GO:1900449, GO:1900182, GO:0097062, GO:0090314, GO:0071560, GO:0071375, GO:0051897, GO:0050966, GO:0050900, GO:0050852, GO:0050852, GO:0050804, GO:0050798, GO:0050730, GO:0050690, GO:0048813, GO:0048013, GO:0048010, GO:0045471, GO:0045087, GO:0043524, GO:0043123, GO:0042542, GO:0042531, GO:0042493, GO:0042177, GO:0042127, GO:0038096, GO:0038083, GO:0036120, GO:0035556, GO:0031397, GO:0031295, GO:0030900, GO:0030168, GO:0030154, GO:0019221, GO:0018108, GO:0018108, GO:0018108, GO:0014068, GO:0010976, GO:0010730, GO:0010629, GO:0008360, GO:0007631, GO:0007612, GO:0007596, GO:0007411, GO:0007169, GO:0006816, GO:0006468, GO:0006468, GO:0003015, GO:0002250, GO:0002223, GO:0001764, GO:0000304, GO:0000165, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of cysteine-type endopeptidase activity, regulation of calcium ion import across plasma membrane, positive regulation of protein localization to membrane, cellular response to glycine, cellular response to L-glutamate, cellular response to amyloid-beta, response to amyloid-beta, positive regulation of non-membrane spanning protein tyrosine kinase activity, negative regulation of oxidative stress-induced cell death, negative regulation of dendritic spine maintenance, positive regulation of neuron death, regulation of glutamate receptor signaling pathway, positive regulation of protein localization to nucleus, dendritic spine maintenance, positive regulation of protein targeting to membrane, cellular response to transforming growth factor beta stimulus, cellular response to peptide hormone stimulus, positive regulation of protein kinase B signaling, detection of mechanical stimulus involved in sensory perception of pain, leukocyte migration, T cell receptor signaling pathway, T cell receptor signaling pathway, modulation of chemical synaptic transmission, activated T cell proliferation, regulation of peptidyl-tyrosine phosphorylation, regulation of defense response to virus by virus, dendrite morphogenesis, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, response to ethanol, innate immune response, negative regulation of neuron apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, response to hydrogen peroxide, positive regulation of tyrosine phosphorylation of STAT protein, response to drug, negative regulation of protein catabolic process, regulation of cell population proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, peptidyl-tyrosine autophosphorylation, cellular response to platelet-derived growth factor stimulus, intracellular signal transduction, negative regulation of protein ubiquitination, T cell costimulation, forebrain development, platelet activation, cell differentiation, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, negative regulation of hydrogen peroxide biosynthetic process, negative regulation of gene expression, regulation of cell shape, feeding behavior, learning, blood coagulation, axon guidance, transmembrane receptor protein tyrosine kinase signaling pathway, calcium ion transport, protein phosphorylation, protein phosphorylation, heart process, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, neuron migration, response to singlet oxygen, MAPK cascade, 252 188 552 574 174 811 479 149 586 ENSG00000010818 chr6 142751467 142956698 - HIVEP2 protein_coding This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]. 3097 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0003677, GO:0000981, GO:0000978, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1415 1268 1634 850 1015 948 990 739 912 ENSG00000010932 chr1 171248471 171285978 + FMO1 protein_coding Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 2326 GO:0016021, GO:0005789, GO:0005788, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, GO:0050661, GO:0050660, GO:0005515, GO:0004499, GO:0004497, GO:0004497, NADP binding, flavin adenine dinucleotide binding, protein binding, N,N-dimethylaniline monooxygenase activity, monooxygenase activity, monooxygenase activity, GO:0070995, GO:0032496, GO:0017144, GO:0009404, GO:0006970, GO:0006805, GO:0006082, NADPH oxidation, response to lipopolysaccharide, drug metabolic process, toxin metabolic process, response to osmotic stress, xenobiotic metabolic process, organic acid metabolic process, 0 0 2 0 0 2 1 0 0 ENSG00000011007 chr1 23743155 23762059 + ELOA protein_coding This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]. 6924 GO:0090734, GO:0070449, GO:0005654, GO:0005615, site of DNA damage, elongin complex, nucleoplasm, extracellular space, GO:0005515, protein binding, GO:0006368, GO:0006366, GO:0006357, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 109 124 138 139 70 130 88 77 114 ENSG00000011009 chr1 23790970 23795539 + LYPLA2 protein_coding Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. [provided by RefSeq, Jul 2008]. 11313 GO:0070062, GO:0005829, GO:0005795, GO:0005737, GO:0005737, extracellular exosome, cytosol, Golgi stack, cytoplasm, cytoplasm, GO:0052689, GO:0045296, GO:0008474, GO:0008474, GO:0008474, GO:0005515, GO:0004622, carboxylic ester hydrolase activity, cadherin binding, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, protein binding, lysophospholipase activity, GO:1905344, GO:0046464, GO:0007411, GO:0002084, GO:0002084, prostaglandin catabolic process, acylglycerol catabolic process, axon guidance, protein depalmitoylation, protein depalmitoylation, 386 416 504 214 351 280 288 328 250 ENSG00000011021 chr1 11806096 11848079 + CLCN6 protein_coding This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]. 1185 GO:0043231, GO:0016021, GO:0010008, GO:0005765, intracellular membrane-bounded organelle, integral component of membrane, endosome membrane, lysosomal membrane, GO:0015297, GO:0015108, GO:0005524, GO:0005247, antiporter activity, chloride transmembrane transporter activity, ATP binding, voltage-gated chloride channel activity, GO:1902476, GO:0034220, GO:0009612, GO:0007165, GO:0006884, GO:0006821, chloride transmembrane transport, ion transmembrane transport, response to mechanical stimulus, signal transduction, cell volume homeostasis, chloride transport, 123 133 112 145 171 136 112 102 75 ENSG00000011028 chr17 62627401 62693597 + MRC2 protein_coding This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]. 9902 GO:0016021, GO:0016020, GO:0005925, integral component of membrane, membrane, focal adhesion, GO:0038023, GO:0030246, GO:0005518, GO:0005515, signaling receptor activity, carbohydrate binding, collagen binding, protein binding, GO:0030574, GO:0006897, GO:0001649, collagen catabolic process, endocytosis, osteoblast differentiation, 6 1 2 13 5 4 7 0 2 ENSG00000011052 chr17 51153590 51171744 + NME1-NME2 protein_coding This locus represents naturally occurring read-through transcription between the neighboring NME1 and NME2 genes. The significance of this read-through transcription and the function of the resulting protein product have not yet been determined. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2010]. 654364 0 0 0 0 0 0 0 0 0 ENSG00000011083 chr5 150189957 150222788 + SLC6A7 protein_coding This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]. 6534 GO:0016020, GO:0005887, GO:0005886, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015193, GO:0005298, L-proline transmembrane transporter activity, proline:sodium symporter activity, GO:0035725, GO:0035524, GO:0015824, GO:0006836, sodium ion transmembrane transport, proline transmembrane transport, proline transport, neurotransmitter transport, 0 0 0 0 0 0 0 0 0 ENSG00000011105 chr12 3077355 3286564 + TSPAN9 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]. 10867 GO:0097197, GO:0005925, GO:0005887, GO:0005886, tetraspanin-enriched microdomain, focal adhesion, integral component of plasma membrane, plasma membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 3 1 3 1 9 4 2 4 0 ENSG00000011114 chr14 93237550 93333092 - BTBD7 protein_coding 55727 GO:0005634, nucleus, GO:0061138, GO:0060693, GO:0007275, morphogenesis of a branching epithelium, regulation of branching involved in salivary gland morphogenesis, multicellular organism development, 21 13 25 28 13 15 7 12 11 ENSG00000011132 chr19 3750819 3761699 - APBA3 protein_coding The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]. 9546 GO:0048471, GO:0043197, GO:0005886, GO:0005737, perinuclear region of cytoplasm, dendritic spine, plasma membrane, cytoplasm, GO:0019899, GO:0005515, GO:0004857, GO:0001540, enzyme binding, protein binding, enzyme inhibitor activity, amyloid-beta binding, GO:0043086, GO:0015031, GO:0010468, GO:0007268, GO:0001701, negative regulation of catalytic activity, protein transport, regulation of gene expression, chemical synaptic transmission, in utero embryonic development, 208 237 414 193 308 224 221 212 206 ENSG00000011143 chr17 58205437 58219605 - MKS1 protein_coding The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 54903 GO:0036064, GO:0036038, GO:0036038, GO:0016020, GO:0005829, GO:0005814, GO:0005813, GO:0005737, ciliary basal body, MKS complex, MKS complex, membrane, cytosol, centriole, centrosome, cytoplasm, GO:0005515, protein binding, GO:2000095, GO:1990403, GO:1905515, GO:1901620, GO:0097711, GO:0061009, GO:0060828, GO:0060411, GO:0060322, GO:0060271, GO:0060271, GO:0060271, GO:0060122, GO:0048754, GO:0048706, GO:0044458, GO:0042733, GO:0010669, GO:0007368, GO:0003271, GO:0001843, regulation of Wnt signaling pathway, planar cell polarity pathway, embryonic brain development, non-motile cilium assembly, regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, ciliary basal body-plasma membrane docking, common bile duct development, regulation of canonical Wnt signaling pathway, cardiac septum morphogenesis, head development, cilium assembly, cilium assembly, cilium assembly, inner ear receptor cell stereocilium organization, branching morphogenesis of an epithelial tube, embryonic skeletal system development, motile cilium assembly, embryonic digit morphogenesis, epithelial structure maintenance, determination of left/right symmetry, smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation, neural tube closure, 10 2 8 16 8 21 6 4 8 ENSG00000011198 chr3 43690108 43734371 + ABHD5 protein_coding The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]. 51099 GO:0005829, GO:0005811, GO:0005811, GO:0005811, GO:0005739, cytosol, lipid droplet, lipid droplet, lipid droplet, mitochondrion, GO:0052689, GO:0042171, GO:0042171, GO:0005515, GO:0004806, GO:0003841, carboxylic ester hydrolase activity, lysophosphatidic acid acyltransferase activity, lysophosphatidic acid acyltransferase activity, protein binding, triglyceride lipase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0055088, GO:0051006, GO:0030154, GO:0010898, GO:0010898, GO:0010891, GO:0010891, GO:0006654, GO:0006654, GO:0006631, lipid homeostasis, positive regulation of lipoprotein lipase activity, cell differentiation, positive regulation of triglyceride catabolic process, positive regulation of triglyceride catabolic process, negative regulation of sequestering of triglyceride, negative regulation of sequestering of triglyceride, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, fatty acid metabolic process, 2031 3552 2775 2161 5871 3794 2648 4405 3367 ENSG00000011201 chrX 8528874 8732186 - ANOS1 protein_coding Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]. 3730 GO:0031012, GO:0009986, GO:0005886, GO:0005615, GO:0005576, extracellular matrix, cell surface, plasma membrane, extracellular space, extracellular region, GO:0008201, GO:0005515, GO:0005201, GO:0004867, heparin binding, protein binding, extracellular matrix structural constituent, serine-type endopeptidase inhibitor activity, GO:0030182, GO:0010951, GO:0008543, GO:0007411, GO:0007155, GO:0006935, neuron differentiation, negative regulation of endopeptidase activity, fibroblast growth factor receptor signaling pathway, axon guidance, cell adhesion, chemotaxis, 1 2 6 0 0 0 0 0 0 ENSG00000011243 chr19 15380048 15419141 - AKAP8L protein_coding 26993 GO:1990904, GO:0016607, GO:0016605, GO:0016363, GO:0016363, GO:0005737, GO:0005634, GO:0005634, GO:0005634, GO:0000785, ribonucleoprotein complex, nuclear speck, PML body, nuclear matrix, nuclear matrix, cytoplasm, nucleus, nucleus, nucleus, chromatin, GO:0046872, GO:0042826, GO:0034237, GO:0017151, GO:0005521, GO:0005515, GO:0003723, GO:0003677, metal ion binding, histone deacetylase binding, protein kinase A regulatory subunit binding, DEAD/H-box RNA helicase binding, lamin binding, protein binding, RNA binding, DNA binding, GO:0051081, GO:0045944, GO:0044839, GO:0033127, GO:0031065, GO:0016032, GO:0010793, GO:0008380, GO:0007076, GO:0006397, nuclear envelope disassembly, positive regulation of transcription by RNA polymerase II, cell cycle G2/M phase transition, regulation of histone phosphorylation, positive regulation of histone deacetylation, viral process, regulation of mRNA export from nucleus, RNA splicing, mitotic chromosome condensation, mRNA processing, 607 666 651 443 547 525 500 504 375 ENSG00000011258 chr17 51177425 51260163 - MBTD1 protein_coding 54799 GO:0005634, nucleus, GO:0042393, GO:0035064, GO:0035064, GO:0008270, GO:0005515, GO:0003682, histone binding, methylated histone binding, methylated histone binding, zinc ion binding, protein binding, chromatin binding, GO:0048706, GO:0045892, GO:0006325, embryonic skeletal system development, negative regulation of transcription, DNA-templated, chromatin organization, 395 347 397 303 408 409 353 287 340 ENSG00000011260 chr17 51260528 51297936 + UTP18 protein_coding 51096 GO:0034388, GO:0032040, GO:0031965, GO:0005730, GO:0005654, GO:0005654, GO:0005634, Pwp2p-containing subcomplex of 90S preribosome, small-subunit processome, nuclear membrane, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0003723, RNA binding, GO:0006364, rRNA processing, 126 127 178 119 132 198 139 95 126 ENSG00000011275 chr7 5620047 5781739 - RNF216 protein_coding This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]. 54476 GO:0098978, GO:0005829, GO:0005829, GO:0005654, GO:0005634, glutamatergic synapse, cytosol, cytosol, nucleoplasm, nucleus, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0099546, GO:0070936, GO:0050691, GO:0043161, GO:0032648, GO:0032480, GO:0016032, GO:0006915, protein catabolic process, modulating synaptic transmission, protein K48-linked ubiquitination, regulation of defense response to virus by host, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of interferon-beta production, negative regulation of type I interferon production, viral process, apoptotic process, 495 566 776 477 606 738 551 433 701 ENSG00000011295 chr17 15999380 16045015 + TTC19 protein_coding This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]. 54902 GO:0070469, GO:0030496, GO:0005813, GO:0005743, GO:0005743, GO:0005739, respirasome, midbody, centrosome, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0055114, GO:0034551, GO:0034551, GO:0000281, oxidation-reduction process, mitochondrial respiratory chain complex III assembly, mitochondrial respiratory chain complex III assembly, mitotic cytokinesis, 81 120 136 174 195 271 175 115 174 ENSG00000011304 chr19 797075 812327 + PTBP1 protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 5725 GO:0070062, GO:0016020, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, membrane, nucleolus, nucleoplasm, nucleus, GO:0036002, GO:0008187, GO:0005515, GO:0003729, GO:0003723, pre-mRNA binding, poly-pyrimidine tract binding, protein binding, mRNA binding, RNA binding, GO:0075522, GO:0070886, GO:0051148, GO:0048025, GO:0048025, GO:0045595, GO:0043484, GO:0035307, GO:0033119, GO:0016070, GO:0008543, GO:0008380, GO:0006417, GO:0006397, GO:0000398, GO:0000381, IRES-dependent viral translational initiation, positive regulation of calcineurin-NFAT signaling cascade, negative regulation of muscle cell differentiation, negative regulation of mRNA splicing, via spliceosome, negative regulation of mRNA splicing, via spliceosome, regulation of cell differentiation, regulation of RNA splicing, positive regulation of protein dephosphorylation, negative regulation of RNA splicing, RNA metabolic process, fibroblast growth factor receptor signaling pathway, RNA splicing, regulation of translation, mRNA processing, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 923 1050 1271 1271 1149 1362 1080 780 931 ENSG00000011332 chr19 38211006 38229714 - DPF1 protein_coding 8193 GO:0071565, GO:0071565, GO:0005737, GO:0000785, nBAF complex, nBAF complex, cytoplasm, chromatin, GO:1990837, GO:0042393, GO:0008270, GO:0003712, sequence-specific double-stranded DNA binding, histone binding, zinc ion binding, transcription coregulator activity, GO:0045944, GO:0045892, GO:0007399, GO:0007399, GO:0006915, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, nervous system development, nervous system development, apoptotic process, 0 1 0 0 0 3 2 0 5 ENSG00000011347 chr11 61515313 61581148 - SYT7 protein_coding This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]. 9066 GO:0098982, GO:0098978, GO:0070382, GO:0070062, GO:0043679, GO:0043025, GO:0042734, GO:0032009, GO:0031045, GO:0030672, GO:0030670, GO:0030425, GO:0016021, GO:0008021, GO:0008021, GO:0005886, GO:0005829, GO:0005778, GO:0005777, GO:0005765, GO:0005764, GABA-ergic synapse, glutamatergic synapse, exocytic vesicle, extracellular exosome, axon terminus, neuronal cell body, presynaptic membrane, early phagosome, dense core granule, synaptic vesicle membrane, phagocytic vesicle membrane, dendrite, integral component of membrane, synaptic vesicle, synaptic vesicle, plasma membrane, cytosol, peroxisomal membrane, peroxisome, lysosomal membrane, lysosome, GO:0030276, GO:0019905, GO:0005546, GO:0005544, GO:0005544, GO:0005544, GO:0005516, GO:0005515, GO:0005509, GO:0001786, GO:0000149, clathrin binding, syntaxin binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, calmodulin binding, protein binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:1990927, GO:1990926, GO:0099502, GO:0090385, GO:0090119, GO:0071277, GO:0070092, GO:0050796, GO:0050764, GO:0048791, GO:0046850, GO:0045956, GO:0036465, GO:0017158, GO:0017156, GO:0016192, GO:0014059, GO:0006909, GO:0001778, calcium ion regulated lysosome exocytosis, short-term synaptic potentiation, calcium-dependent activation of synaptic vesicle fusion, phagosome-lysosome fusion, vesicle-mediated cholesterol transport, cellular response to calcium ion, regulation of glucagon secretion, regulation of insulin secretion, regulation of phagocytosis, calcium ion-regulated exocytosis of neurotransmitter, regulation of bone remodeling, positive regulation of calcium ion-dependent exocytosis, synaptic vesicle recycling, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, phagocytosis, plasma membrane repair, 0 0 0 0 0 0 0 0 0 ENSG00000011376 chr3 45388506 45549421 + LARS2 protein_coding This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]. 23395 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005524, GO:0004823, GO:0004823, GO:0004823, GO:0002161, ATP binding, leucine-tRNA ligase activity, leucine-tRNA ligase activity, leucine-tRNA ligase activity, aminoacyl-tRNA editing activity, GO:0106074, GO:0032543, GO:0006429, GO:0006429, GO:0006418, aminoacyl-tRNA metabolism involved in translational fidelity, mitochondrial translation, leucyl-tRNA aminoacylation, leucyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 34 28 42 43 21 52 46 24 28 ENSG00000011405 chr11 17077730 17207983 - PIK3C2A protein_coding The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]. 5286 GO:0070062, GO:0031982, GO:0030136, GO:0016020, GO:0016020, GO:0005942, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005737, GO:0005737, GO:0005654, extracellular exosome, vesicle, clathrin-coated vesicle, membrane, membrane, phosphatidylinositol 3-kinase complex, plasma membrane, plasma membrane, cytosol, trans-Golgi network, cytoplasm, cytoplasm, nucleoplasm, GO:0052742, GO:0046934, GO:0035091, GO:0035005, GO:0035005, GO:0035005, GO:0035004, GO:0030276, GO:0016303, GO:0016303, GO:0005524, phosphatidylinositol kinase activity, phosphatidylinositol-4,5-bisphosphate 3-kinase activity, phosphatidylinositol binding, 1-phosphatidylinositol-4-phosphate 3-kinase activity, 1-phosphatidylinositol-4-phosphate 3-kinase activity, 1-phosphatidylinositol-4-phosphate 3-kinase activity, phosphatidylinositol 3-kinase activity, clathrin binding, 1-phosphatidylinositol-3-kinase activity, 1-phosphatidylinositol-3-kinase activity, ATP binding, GO:0090050, GO:0061024, GO:0048268, GO:0048015, GO:0048008, GO:0046854, GO:0036092, GO:0016477, GO:0014829, GO:0014065, GO:0010508, GO:0008286, GO:0007173, GO:0006897, GO:0006887, GO:0006661, positive regulation of cell migration involved in sprouting angiogenesis, membrane organization, clathrin coat assembly, phosphatidylinositol-mediated signaling, platelet-derived growth factor receptor signaling pathway, phosphatidylinositol phosphorylation, phosphatidylinositol-3-phosphate biosynthetic process, cell migration, vascular associated smooth muscle contraction, phosphatidylinositol 3-kinase signaling, positive regulation of autophagy, insulin receptor signaling pathway, epidermal growth factor receptor signaling pathway, endocytosis, exocytosis, phosphatidylinositol biosynthetic process, 536 551 781 334 526 423 349 363 331 ENSG00000011422 chr19 43646095 43670547 - PLAUR protein_coding This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]. 5329 GO:0071438, GO:0035579, GO:0031225, GO:0019898, GO:0016021, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005788, GO:0005576, invadopodium membrane, specific granule membrane, anchored component of membrane, extrinsic component of membrane, integral component of membrane, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, extracellular region, GO:0038023, GO:0030377, GO:0019904, GO:0019899, GO:0005515, GO:0005102, signaling receptor activity, urokinase plasminogen activator receptor activity, protein domain specific binding, enzyme binding, protein binding, signaling receptor binding, GO:2001268, GO:2001243, GO:0090200, GO:0045742, GO:0043388, GO:0043312, GO:0043066, GO:0042730, GO:0038195, GO:0034112, GO:0030162, GO:0007596, GO:0007165, GO:0006935, GO:0001934, negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, negative regulation of intrinsic apoptotic signaling pathway, positive regulation of release of cytochrome c from mitochondria, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of DNA binding, neutrophil degranulation, negative regulation of apoptotic process, fibrinolysis, urokinase plasminogen activator signaling pathway, positive regulation of homotypic cell-cell adhesion, regulation of proteolysis, blood coagulation, signal transduction, chemotaxis, positive regulation of protein phosphorylation, 7241 9176 10358 14143 16242 25111 21475 17248 22603 ENSG00000011426 chr7 36389806 36453791 + ANLN protein_coding This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. 54443 GO:0099738, GO:0032059, GO:0030496, GO:0015629, GO:0005826, GO:0005826, GO:0005654, cell cortex region, bleb, midbody, actin cytoskeleton, actomyosin contractile ring, actomyosin contractile ring, nucleoplasm, GO:0045296, GO:0031267, GO:0003779, cadherin binding, small GTPase binding, actin binding, GO:1904172, GO:0090521, GO:0031106, GO:0007096, GO:0002244, GO:0000921, GO:0000915, GO:0000281, GO:0000281, positive regulation of bleb assembly, glomerular visceral epithelial cell migration, septin ring organization, regulation of exit from mitosis, hematopoietic progenitor cell differentiation, septin ring assembly, actomyosin contractile ring assembly, mitotic cytokinesis, mitotic cytokinesis, 6 11 2 1 3 2 9 1 0 ENSG00000011451 chr19 15419980 15449951 - WIZ protein_coding 58525 GO:0070062, GO:0030496, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, midbody, nucleoplasm, nucleus, nucleus, GO:1990226, GO:0070984, GO:0046872, GO:0044877, GO:0005515, GO:0001226, GO:0000981, GO:0000981, GO:0000978, GO:0000978, histone methyltransferase binding, SET domain binding, metal ion binding, protein-containing complex binding, protein binding, RNA polymerase II transcription corepressor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050821, GO:0010571, GO:0006357, GO:0006357, protein stabilization, positive regulation of nuclear cell cycle DNA replication, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 121 147 172 118 114 135 115 80 149 ENSG00000011454 chr9 122940833 123104866 + RABGAP1 protein_coding 23637 GO:0005875, GO:0005829, GO:0005829, GO:0005813, microtubule associated complex, cytosol, cytosol, centrosome, GO:0031267, GO:0031267, GO:0015631, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, tubulin binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902017, GO:0090630, GO:0043087, GO:0007049, GO:0006886, regulation of cilium assembly, activation of GTPase activity, regulation of GTPase activity, cell cycle, intracellular protein transport, 334 323 359 267 375 287 308 278 263 ENSG00000011465 chr12 91140484 91183123 - DCN protein_coding This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]. 1634 GO:0062023, GO:0062023, GO:0062023, GO:0043202, GO:0005796, GO:0005615, GO:0005615, GO:0005589, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, Golgi lumen, extracellular space, extracellular space, collagen type VI trimer, extracellular region, extracellular region, GO:0050840, GO:0047485, GO:0030021, GO:0030021, GO:0005539, GO:0005518, GO:0005515, GO:0003723, extracellular matrix binding, protein N-terminus binding, extracellular matrix structural constituent conferring compression resistance, extracellular matrix structural constituent conferring compression resistance, glycosaminoglycan binding, collagen binding, protein binding, RNA binding, GO:1900747, GO:0090141, GO:0051901, GO:0045944, GO:0042060, GO:0032496, GO:0030208, GO:0030207, GO:0030206, GO:0030198, GO:0019800, GO:0016525, GO:0016239, GO:0016239, GO:0014068, GO:0010596, GO:0010508, GO:0009887, GO:0009612, GO:0007568, GO:0007519, GO:0001890, GO:0001822, negative regulation of vascular endothelial growth factor signaling pathway, positive regulation of mitochondrial fission, positive regulation of mitochondrial depolarization, positive regulation of transcription by RNA polymerase II, wound healing, response to lipopolysaccharide, dermatan sulfate biosynthetic process, chondroitin sulfate catabolic process, chondroitin sulfate biosynthetic process, extracellular matrix organization, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, negative regulation of angiogenesis, positive regulation of macroautophagy, positive regulation of macroautophagy, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of endothelial cell migration, positive regulation of autophagy, animal organ morphogenesis, response to mechanical stimulus, aging, skeletal muscle tissue development, placenta development, kidney development, 0 0 0 0 0 0 0 0 0 ENSG00000011478 chr19 45692483 45703989 + QPCTL protein_coding 54814 GO:0016021, GO:0016020, GO:0005794, GO:0000139, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, GO:0016603, GO:0016603, GO:0008270, GO:0008270, glutaminyl-peptide cyclotransferase activity, glutaminyl-peptide cyclotransferase activity, zinc ion binding, zinc ion binding, GO:0017186, GO:0017186, peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase, peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase, 27 60 64 206 292 385 164 196 155 ENSG00000011485 chr19 46346994 46392981 + PPP5C protein_coding This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]. 5536 GO:1990635, GO:0101031, GO:0043231, GO:0043204, GO:0032991, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005634, proximal dendrite, chaperone complex, intracellular membrane-bounded organelle, perikaryon, protein-containing complex, plasma membrane, cytosol, cytosol, cytosol, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0051879, GO:0048156, GO:0046872, GO:0044877, GO:0043531, GO:0042802, GO:0016791, GO:0008289, GO:0008017, GO:0005524, GO:0005515, GO:0004722, GO:0004722, GO:0004722, GO:0004722, GO:0004721, GO:0004721, GO:0003723, GO:0001965, protein threonine phosphatase activity, protein serine phosphatase activity, Hsp90 protein binding, tau protein binding, metal ion binding, protein-containing complex binding, ADP binding, identical protein binding, phosphatase activity, lipid binding, microtubule binding, ATP binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, phosphoprotein phosphatase activity, RNA binding, G-protein alpha-subunit binding, GO:2000324, GO:1904550, GO:1901215, GO:0071276, GO:0070301, GO:0070262, GO:0070262, GO:0043278, GO:0043123, GO:0035970, GO:0016576, GO:0010288, GO:0006470, GO:0006351, GO:0006281, GO:0001933, GO:0000278, GO:0000165, positive regulation of glucocorticoid receptor signaling pathway, response to arachidonic acid, negative regulation of neuron death, cellular response to cadmium ion, cellular response to hydrogen peroxide, peptidyl-serine dephosphorylation, peptidyl-serine dephosphorylation, response to morphine, positive regulation of I-kappaB kinase/NF-kappaB signaling, peptidyl-threonine dephosphorylation, histone dephosphorylation, response to lead ion, protein dephosphorylation, transcription, DNA-templated, DNA repair, negative regulation of protein phosphorylation, mitotic cell cycle, MAPK cascade, 17 17 35 52 29 79 49 22 37 ENSG00000011523 chr2 65056366 65087004 + CEP68 protein_coding 23177 GO:0034451, GO:0030054, GO:0005829, GO:0005813, GO:0005654, centriolar satellite, cell junction, cytosol, centrosome, nucleoplasm, GO:0019904, GO:0019901, GO:0005515, protein domain specific binding, protein kinase binding, protein binding, GO:0033365, GO:0010457, GO:0007098, protein localization to organelle, centriole-centriole cohesion, centrosome cycle, 162 166 212 333 289 535 349 233 384 ENSG00000011566 chr2 39249266 39437312 - MAP4K3 protein_coding This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 8491 GO:0106311, GO:0106310, GO:0008349, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, MAP kinase kinase kinase kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0035556, GO:0034612, GO:0009411, GO:0007254, GO:0006468, GO:0000185, intracellular signal transduction, response to tumor necrosis factor, response to UV, JNK cascade, protein phosphorylation, activation of MAPKKK activity, 15 8 20 10 8 52 33 13 18 ENSG00000011590 chr19 35704527 35717038 + ZBTB32 protein_coding 27033 GO:0005654, GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0008270, GO:0005515, GO:0003677, GO:0001227, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, zinc ion binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 3 7 0 4 0 5 2 1 ENSG00000011600 chr19 35904401 35908295 - TYROBP protein_coding This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]. 7305 GO:0030667, GO:0016021, GO:0009986, GO:0009986, GO:0005887, GO:0005886, secretory granule membrane, integral component of membrane, cell surface, cell surface, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0042802, GO:0005515, GO:0005102, GO:0005102, GO:0005102, GO:0005102, metal ion binding, identical protein binding, protein binding, signaling receptor binding, signaling receptor binding, signaling receptor binding, signaling receptor binding, GO:2001206, GO:2000010, GO:1904151, GO:1904151, GO:1902685, GO:1901216, GO:1900272, GO:0110090, GO:0097190, GO:0050821, GO:0050821, GO:0050776, GO:0048678, GO:0045087, GO:0043312, GO:0043277, GO:0035556, GO:0034241, GO:0034241, GO:0032930, GO:0032911, GO:0032911, GO:0032816, GO:0032760, GO:0032755, GO:0032731, GO:0032693, GO:0030900, GO:0030889, GO:0030889, GO:0030316, GO:0030036, GO:0010628, GO:0007229, GO:0007165, GO:0006968, GO:0002283, GO:0002282, GO:0002282, GO:0002274, positive regulation of osteoclast development, positive regulation of protein localization to cell surface, positive regulation of microglial cell mediated cytotoxicity, positive regulation of microglial cell mediated cytotoxicity, positive regulation of receptor localization to synapse, positive regulation of neuron death, negative regulation of long-term synaptic potentiation, positive regulation of hippocampal neuron apoptotic process, apoptotic signaling pathway, protein stabilization, protein stabilization, regulation of immune response, response to axon injury, innate immune response, neutrophil degranulation, apoptotic cell clearance, intracellular signal transduction, positive regulation of macrophage fusion, positive regulation of macrophage fusion, positive regulation of superoxide anion generation, negative regulation of transforming growth factor beta1 production, negative regulation of transforming growth factor beta1 production, positive regulation of natural killer cell activation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, negative regulation of interleukin-10 production, forebrain development, negative regulation of B cell proliferation, negative regulation of B cell proliferation, osteoclast differentiation, actin cytoskeleton organization, positive regulation of gene expression, integrin-mediated signaling pathway, signal transduction, cellular defense response, neutrophil activation involved in immune response, microglial cell activation involved in immune response, microglial cell activation involved in immune response, myeloid leukocyte activation, 6697 5495 7734 1832 4388 2891 2703 4328 3192 ENSG00000011638 chr16 21158377 21180616 + TMEM159 protein_coding 57146 GO:0016021, GO:0005811, GO:0005789, integral component of membrane, lipid droplet, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0140042, lipid droplet formation, 16 14 16 19 6 32 25 15 2 ENSG00000011677 chrX 152166234 152451358 - GABRA3 protein_coding GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]. 2556 GO:1902711, GO:0099060, GO:0098982, GO:0098794, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0005887, GO:0005886, GABA-A receptor complex, integral component of postsynaptic specialization membrane, GABA-ergic synapse, postsynapse, synapse, neuron projection, chloride channel complex, dendrite membrane, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0030594, GO:0022851, GO:0008503, GO:0005515, GO:0005254, GO:0005237, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, protein binding, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:1902476, GO:0060078, GO:0051932, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007214, GO:0007165, chloride transmembrane transport, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000012048 chr17 43044295 43170245 - BRCA1 protein_coding This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]. 672 GO:1990904, GO:0070531, GO:0070531, GO:0032991, GO:0031436, GO:0031436, GO:0016604, GO:0008274, GO:0005886, GO:0005886, GO:0005737, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0000800, GO:0000151, ribonucleoprotein complex, BRCA1-A complex, BRCA1-A complex, protein-containing complex, BRCA1-BARD1 complex, BRCA1-BARD1 complex, nuclear body, gamma-tubulin ring complex, plasma membrane, plasma membrane, cytoplasm, chromosome, nucleoplasm, nucleoplasm, nucleus, lateral element, ubiquitin ligase complex, GO:0070063, GO:0042802, GO:0031625, GO:0019899, GO:0015631, GO:0008270, GO:0005515, GO:0004842, GO:0004842, GO:0003723, GO:0003713, GO:0003684, GO:0003677, GO:0000976, RNA polymerase binding, identical protein binding, ubiquitin protein ligase binding, enzyme binding, tubulin binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, RNA binding, transcription coactivator activity, damaged DNA binding, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000620, GO:2000617, GO:2000378, GO:1902042, GO:1901796, GO:0085020, GO:0072425, GO:0071681, GO:0071356, GO:0071158, GO:0071158, GO:0070512, GO:0070317, GO:0051865, GO:0051574, GO:0051573, GO:0051572, GO:0051571, GO:0046600, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045766, GO:0045739, GO:0045717, GO:0045717, GO:0044818, GO:0044030, GO:0043627, GO:0043009, GO:0042981, GO:0042127, GO:0035067, GO:0035066, GO:0035066, GO:0033147, GO:0031398, GO:0016579, GO:0016567, GO:0010628, GO:0010575, GO:0010212, GO:0009048, GO:0008630, GO:0007098, GO:0007059, GO:0006978, GO:0006974, GO:0006915, GO:0006633, GO:0006359, GO:0006357, GO:0006349, GO:0006303, GO:0006302, GO:0006302, GO:0006301, GO:0006260, GO:0000729, GO:0000724, GO:0000724, positive regulation of histone H4-K16 acetylation, positive regulation of histone H3-K9 acetylation, negative regulation of reactive oxygen species metabolic process, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of signal transduction by p53 class mediator, protein K6-linked ubiquitination, signal transduction involved in G2 DNA damage checkpoint, cellular response to indole-3-methanol, cellular response to tumor necrosis factor, positive regulation of cell cycle arrest, positive regulation of cell cycle arrest, positive regulation of histone H4-K20 methylation, negative regulation of G0 to G1 transition, protein autoubiquitination, positive regulation of histone H3-K9 methylation, negative regulation of histone H3-K9 methylation, negative regulation of histone H3-K4 methylation, positive regulation of histone H3-K4 methylation, negative regulation of centriole replication, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of angiogenesis, positive regulation of DNA repair, negative regulation of fatty acid biosynthetic process, negative regulation of fatty acid biosynthetic process, mitotic G2/M transition checkpoint, regulation of DNA methylation, response to estrogen, chordate embryonic development, regulation of apoptotic process, regulation of cell population proliferation, negative regulation of histone acetylation, positive regulation of histone acetylation, positive regulation of histone acetylation, negative regulation of intracellular estrogen receptor signaling pathway, positive regulation of protein ubiquitination, protein deubiquitination, protein ubiquitination, positive regulation of gene expression, positive regulation of vascular endothelial growth factor production, response to ionizing radiation, dosage compensation by inactivation of X chromosome, intrinsic apoptotic signaling pathway in response to DNA damage, centrosome cycle, chromosome segregation, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, cellular response to DNA damage stimulus, apoptotic process, fatty acid biosynthetic process, regulation of transcription by RNA polymerase III, regulation of transcription by RNA polymerase II, regulation of gene expression by genetic imprinting, double-strand break repair via nonhomologous end joining, double-strand break repair, double-strand break repair, postreplication repair, DNA replication, DNA double-strand break processing, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 263 268 276 119 199 134 134 137 153 ENSG00000012061 chr19 45407333 45478828 - ERCC1 protein_coding The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]. 2067 GO:0070522, GO:0070522, GO:0005737, GO:0005654, GO:0005654, GO:0000781, GO:0000110, GO:0000110, GO:0000109, ERCC4-ERCC1 complex, ERCC4-ERCC1 complex, cytoplasm, nucleoplasm, nucleoplasm, chromosome, telomeric region, nucleotide-excision repair factor 1 complex, nucleotide-excision repair factor 1 complex, nucleotide-excision repair complex, GO:1990841, GO:1990599, GO:0019904, GO:0008022, GO:0005515, GO:0003697, GO:0003697, GO:0003684, GO:0003684, GO:0003677, GO:0001094, GO:0000014, promoter-specific chromatin binding, 3' overhang single-stranded DNA endodeoxyribonuclease activity, protein domain specific binding, protein C-terminus binding, protein binding, single-stranded DNA binding, single-stranded DNA binding, damaged DNA binding, damaged DNA binding, DNA binding, TFIID-class transcription factor complex binding, single-stranded DNA endodeoxyribonuclease activity, GO:1905765, GO:1904431, GO:0090656, GO:0070914, GO:0070911, GO:0061819, GO:0060261, GO:0048568, GO:0048477, GO:0046686, GO:0045190, GO:0036297, GO:0035902, GO:0035264, GO:0035166, GO:0033683, GO:0032205, GO:0010259, GO:0010165, GO:0009744, GO:0009650, GO:0008584, GO:0008283, GO:0007584, GO:0007283, GO:0006979, GO:0006949, GO:0006312, GO:0006312, GO:0006310, GO:0006303, GO:0006296, GO:0006296, GO:0006296, GO:0006295, GO:0006295, GO:0006293, GO:0006289, GO:0006289, GO:0006283, GO:0006281, GO:0000720, GO:0000710, negative regulation of protection from non-homologous end joining at telomere, positive regulation of t-circle formation, t-circle formation, UV-damage excision repair, global genome nucleotide-excision repair, telomeric DNA-containing double minutes formation, positive regulation of transcription initiation from RNA polymerase II promoter, embryonic organ development, oogenesis, response to cadmium ion, isotype switching, interstrand cross-link repair, response to immobilization stress, multicellular organism growth, post-embryonic hemopoiesis, nucleotide-excision repair, DNA incision, negative regulation of telomere maintenance, multicellular organism aging, response to X-ray, response to sucrose, UV protection, male gonad development, cell population proliferation, response to nutrient, spermatogenesis, response to oxidative stress, syncytium formation, mitotic recombination, mitotic recombination, DNA recombination, double-strand break repair via nonhomologous end joining, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, pyrimidine dimer repair by nucleotide-excision repair, meiotic mismatch repair, 162 199 155 193 219 173 175 170 128 ENSG00000012124 chr19 35319261 35347355 + CD22 protein_coding 933 GO:0070062, GO:0055037, GO:0055037, GO:0032809, GO:0016021, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005769, GO:0005769, GO:0005737, extracellular exosome, recycling endosome, recycling endosome, neuronal cell body membrane, integral component of membrane, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, early endosome, early endosome, cytoplasm, GO:0042609, GO:0042609, GO:0033691, GO:0033691, GO:0033691, GO:0030246, GO:0019903, GO:0019903, GO:0019903, GO:0005515, GO:0005102, GO:0001791, CD4 receptor binding, CD4 receptor binding, sialic acid binding, sialic acid binding, sialic acid binding, carbohydrate binding, protein phosphatase binding, protein phosphatase binding, protein phosphatase binding, protein binding, signaling receptor binding, IgM binding, GO:0050859, GO:0050859, GO:0050859, GO:0050859, GO:0050849, GO:0050776, GO:0042113, GO:0042113, GO:0030888, GO:0030888, GO:0030100, GO:0007155, GO:0002638, negative regulation of B cell receptor signaling pathway, negative regulation of B cell receptor signaling pathway, negative regulation of B cell receptor signaling pathway, negative regulation of B cell receptor signaling pathway, negative regulation of calcium-mediated signaling, regulation of immune response, B cell activation, B cell activation, regulation of B cell proliferation, regulation of B cell proliferation, regulation of endocytosis, cell adhesion, negative regulation of immunoglobulin production, 18 35 16 50 41 54 51 58 41 ENSG00000012171 chr3 50267558 50277546 + SEMA3B protein_coding The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 7869 GO:0062023, GO:0005887, GO:0005783, GO:0005615, collagen-containing extracellular matrix, integral component of plasma membrane, endoplasmic reticulum, extracellular space, GO:0045499, GO:0045499, GO:0030215, chemorepellent activity, chemorepellent activity, semaphorin receptor binding, GO:0071526, GO:0061643, GO:0050919, GO:0048843, GO:0030335, GO:0007411, GO:0007267, GO:0001755, semaphorin-plexin signaling pathway, chemorepulsion of axon, negative chemotaxis, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, axon guidance, cell-cell signaling, neural crest cell migration, 42 60 45 94 132 84 111 83 66 ENSG00000012174 chrX 21839636 21885424 + MBTPS2 protein_coding This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]. 51360 GO:0016021, GO:0005789, GO:0005737, GO:0005737, GO:0000139, integral component of membrane, endoplasmic reticulum membrane, cytoplasm, cytoplasm, Golgi membrane, GO:0046872, GO:0004222, GO:0004222, metal ion binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:1990440, GO:1990440, GO:1905897, GO:0070977, GO:0051091, GO:0051091, GO:0045540, GO:0036500, GO:0034976, GO:0031293, GO:0031293, GO:0030968, GO:0008203, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, regulation of response to endoplasmic reticulum stress, bone maturation, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, regulation of cholesterol biosynthetic process, ATF6-mediated unfolded protein response, response to endoplasmic reticulum stress, membrane protein intracellular domain proteolysis, membrane protein intracellular domain proteolysis, endoplasmic reticulum unfolded protein response, cholesterol metabolic process, 11 4 9 19 13 38 14 8 17 ENSG00000012211 chrX 49175264 49186528 - PRICKLE3 protein_coding LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008]. 4007 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0030030, GO:0008150, GO:0007275, cell projection organization, biological_process, multicellular organism development, 42 66 128 18 54 62 24 43 45 ENSG00000012223 chr3 46435645 46485234 - LTF protein_coding This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. 4057 GO:1904724, GO:0097013, GO:0070062, GO:0055037, GO:0042581, GO:0035580, GO:0032991, GO:0030141, GO:0009986, GO:0005886, GO:0005769, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, tertiary granule lumen, phagocytic vesicle lumen, extracellular exosome, recycling endosome, specific granule, specific granule lumen, protein-containing complex, secretory granule, cell surface, plasma membrane, early endosome, cytoplasm, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, GO:0043539, GO:0008201, GO:0005515, GO:0005506, GO:0004869, GO:0004252, GO:0003677, GO:0001530, protein serine/threonine kinase activator activity, heparin binding, protein binding, iron ion binding, cysteine-type endopeptidase inhibitor activity, serine-type endopeptidase activity, DNA binding, lipopolysaccharide binding, GO:2001205, GO:2000308, GO:2000117, GO:1902732, GO:1900229, GO:1900159, GO:0071902, GO:0061844, GO:0060349, GO:0051673, GO:0051092, GO:0050829, GO:0048525, GO:0045669, GO:0045071, GO:0044793, GO:0044267, GO:0043312, GO:0043123, GO:0043066, GO:0034145, GO:0033690, GO:0033214, GO:0032780, GO:0032680, GO:0031665, GO:0031640, GO:0031640, GO:0019732, GO:0019731, GO:0019731, GO:0019730, GO:0006959, GO:0006826, GO:0006508, GO:0002227, GO:0001895, GO:0001817, GO:0001503, negative regulation of osteoclast development, negative regulation of tumor necrosis factor (ligand) superfamily member 11 production, negative regulation of cysteine-type endopeptidase activity, positive regulation of chondrocyte proliferation, negative regulation of single-species biofilm formation in or on host organism, positive regulation of bone mineralization involved in bone maturation, positive regulation of protein serine/threonine kinase activity, antimicrobial humoral immune response mediated by antimicrobial peptide, bone morphogenesis, membrane disruption in other organism, positive regulation of NF-kappaB transcription factor activity, defense response to Gram-negative bacterium, negative regulation of viral process, positive regulation of osteoblast differentiation, negative regulation of viral genome replication, negative regulation by host of viral process, cellular protein metabolic process, neutrophil degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of toll-like receptor 4 signaling pathway, positive regulation of osteoblast proliferation, siderophore-dependent iron import into cell, negative regulation of ATPase activity, regulation of tumor necrosis factor production, negative regulation of lipopolysaccharide-mediated signaling pathway, killing of cells of other organism, killing of cells of other organism, antifungal humoral response, antibacterial humoral response, antibacterial humoral response, antimicrobial humoral response, humoral immune response, iron ion transport, proteolysis, innate immune response in mucosa, retina homeostasis, regulation of cytokine production, ossification, 13 31 101 36 61 185 29 62 104 ENSG00000012232 chr8 28600469 28755599 + EXTL3 protein_coding This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]. 2137 GO:0016021, GO:0005794, GO:0005794, GO:0005789, GO:0005783, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0046872, GO:0016757, GO:0016757, GO:0005515, GO:0001888, metal ion binding, transferase activity, transferring glycosyl groups, transferase activity, transferring glycosyl groups, protein binding, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, GO:0036498, GO:0030307, GO:0015012, GO:0015012, GO:0006486, IRE1-mediated unfolded protein response, positive regulation of cell growth, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, protein glycosylation, 1122 1501 1513 540 1229 952 704 996 863 ENSG00000012504 chr12 100473708 100564413 + NR1H4 protein_coding This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]. 9971 GO:0043235, GO:0005654, GO:0000791, GO:0000785, GO:0000785, receptor complex, nucleoplasm, euchromatin, chromatin, chromatin, GO:1902122, GO:0046965, GO:0043565, GO:0038181, GO:0038181, GO:0038181, GO:0032052, GO:0032052, GO:0032052, GO:0016922, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0004879, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, chenodeoxycholic acid binding, retinoid X receptor binding, sequence-specific DNA binding, bile acid receptor activity, bile acid receptor activity, bile acid receptor activity, bile acid binding, bile acid binding, bile acid binding, nuclear receptor binding, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001250, GO:2000213, GO:1905695, GO:1904179, GO:1903413, GO:0090181, GO:0071638, GO:0071417, GO:0071398, GO:0071222, GO:0070857, GO:0061178, GO:0055089, GO:0050728, GO:0046628, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045087, GO:0043124, GO:0043066, GO:0042742, GO:0038185, GO:0038183, GO:0038183, GO:0038183, GO:0035774, GO:0035356, GO:0034971, GO:0034255, GO:0034162, GO:0034142, GO:0032720, GO:0032715, GO:0032703, GO:0032692, GO:0032689, GO:0032620, GO:0032088, GO:0030522, GO:0030154, GO:0015721, GO:0010988, GO:0010903, GO:0010804, GO:0008206, GO:0007219, GO:0007043, GO:0006954, GO:0006367, GO:0006357, GO:0001678, GO:0001080, GO:0000122, GO:0000122, positive regulation of ammonia assimilation cycle, positive regulation of glutamate metabolic process, positive regulation of phosphatidic acid biosynthetic process, positive regulation of adipose tissue development, cellular response to bile acid, regulation of cholesterol metabolic process, negative regulation of monocyte chemotactic protein-1 production, cellular response to organonitrogen compound, cellular response to fatty acid, cellular response to lipopolysaccharide, regulation of bile acid biosynthetic process, regulation of insulin secretion involved in cellular response to glucose stimulus, fatty acid homeostasis, negative regulation of inflammatory response, positive regulation of insulin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, defense response to bacterium, intracellular bile acid receptor signaling pathway, bile acid signaling pathway, bile acid signaling pathway, bile acid signaling pathway, positive regulation of insulin secretion involved in cellular response to glucose stimulus, cellular triglyceride homeostasis, histone H3-R17 methylation, regulation of urea metabolic process, toll-like receptor 9 signaling pathway, toll-like receptor 4 signaling pathway, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-2 production, negative regulation of interleukin-1 production, negative regulation of interferon-gamma production, interleukin-17 production, negative regulation of NF-kappaB transcription factor activity, intracellular receptor signaling pathway, cell differentiation, bile acid and bile salt transport, regulation of low-density lipoprotein particle clearance, negative regulation of very-low-density lipoprotein particle remodeling, negative regulation of tumor necrosis factor-mediated signaling pathway, bile acid metabolic process, Notch signaling pathway, cell-cell junction assembly, inflammatory response, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, cellular glucose homeostasis, nitrogen catabolite activation of transcription from RNA polymerase II promoter, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 3 0 0 0 ENSG00000012660 chr6 53267398 53349179 - ELOVL5 protein_coding This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. 60481 GO:0097447, GO:0043025, GO:0030425, GO:0030176, GO:0016020, GO:0005789, GO:0005783, dendritic tree, neuronal cell body, dendrite, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102756, GO:0102338, GO:0102337, GO:0102336, GO:0009922, GO:0009922, GO:0005515, very-long-chain 3-ketoacyl-CoA synthase activity, 3-oxo-lignoceronyl-CoA synthase activity, 3-oxo-cerotoyl-CoA synthase activity, 3-oxo-arachidoyl-CoA synthase activity, fatty acid elongase activity, fatty acid elongase activity, protein binding, GO:0045723, GO:0043651, GO:0042761, GO:0042761, GO:0036109, GO:0035338, GO:0034626, GO:0034626, GO:0034625, GO:0034625, GO:0030148, GO:0019367, GO:0006636, positive regulation of fatty acid biosynthetic process, linoleic acid metabolic process, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, alpha-linolenic acid metabolic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, sphingolipid biosynthetic process, fatty acid elongation, saturated fatty acid, unsaturated fatty acid biosynthetic process, 4784 3827 5985 2754 3472 3492 3316 3054 3090 ENSG00000012779 chr10 45374176 45446119 + ALOX5 protein_coding This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 240 GO:1904813, GO:0048471, GO:0034774, GO:0031965, GO:0016363, GO:0005829, GO:0005829, GO:0005654, GO:0005641, GO:0005635, GO:0005635, GO:0005635, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, perinuclear region of cytoplasm, secretory granule lumen, nuclear membrane, nuclear matrix, cytosol, cytosol, nucleoplasm, nuclear envelope lumen, nuclear envelope, nuclear envelope, nuclear envelope, extracellular space, extracellular region, GO:0016787, GO:0016702, GO:0005515, GO:0005506, GO:0004051, GO:0004051, GO:0004051, hydrolase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, protein binding, iron ion binding, arachidonate 5-lipoxygenase activity, arachidonate 5-lipoxygenase activity, arachidonate 5-lipoxygenase activity, GO:2001301, GO:2001301, GO:1904999, GO:1903671, GO:1903573, GO:1903426, GO:1901753, GO:1901753, GO:1900407, GO:1900015, GO:0106014, GO:0061045, GO:0061044, GO:0051122, GO:0050796, GO:0050728, GO:0050727, GO:0045598, GO:0043651, GO:0043312, GO:0042759, GO:0042593, GO:0036336, GO:0035655, GO:0034440, GO:0030501, GO:0019372, GO:0019372, GO:0019370, GO:0019369, GO:0019221, GO:0016525, GO:0006959, GO:0006691, GO:0002540, GO:0002523, GO:0002232, GO:0001937, lipoxin biosynthetic process, lipoxin biosynthetic process, positive regulation of leukocyte adhesion to arterial endothelial cell, negative regulation of sprouting angiogenesis, negative regulation of response to endoplasmic reticulum stress, regulation of reactive oxygen species biosynthetic process, leukotriene A4 biosynthetic process, leukotriene A4 biosynthetic process, regulation of cellular response to oxidative stress, regulation of cytokine production involved in inflammatory response, regulation of inflammatory response to wounding, negative regulation of wound healing, negative regulation of vascular wound healing, hepoxilin biosynthetic process, regulation of insulin secretion, negative regulation of inflammatory response, regulation of inflammatory response, regulation of fat cell differentiation, linoleic acid metabolic process, neutrophil degranulation, long-chain fatty acid biosynthetic process, glucose homeostasis, dendritic cell migration, interleukin-18-mediated signaling pathway, lipid oxidation, positive regulation of bone mineralization, lipoxygenase pathway, lipoxygenase pathway, leukotriene biosynthetic process, arachidonic acid metabolic process, cytokine-mediated signaling pathway, negative regulation of angiogenesis, humoral immune response, leukotriene metabolic process, leukotriene production involved in inflammatory response, leukocyte migration involved in inflammatory response, leukocyte chemotaxis involved in inflammatory response, negative regulation of endothelial cell proliferation, 54 507 912 29 305 80 45 78 53 ENSG00000012817 chrY 19703865 19744939 - KDM5D protein_coding This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 8284 GO:0035097, GO:0005654, GO:0001650, histone methyltransferase complex, nucleoplasm, fibrillar center, GO:0051213, GO:0050681, GO:0046872, GO:0034647, GO:0032453, GO:0032452, GO:0005515, GO:0003677, dioxygenase activity, androgen receptor binding, metal ion binding, histone demethylase activity (H3-trimethyl-K4 specific), histone demethylase activity (H3-K4 specific), histone demethylase activity, protein binding, DNA binding, GO:0060765, GO:0055114, GO:0034721, GO:0034720, GO:0006338, regulation of androgen receptor signaling pathway, oxidation-reduction process, histone H3-K4 demethylation, trimethyl-H3-K4-specific, histone H3-K4 demethylation, chromatin remodeling, 119 108 290 336 106 367 322 70 201 ENSG00000012822 chr12 53708517 53727745 - CALCOCO1 protein_coding 57658 GO:0043231, GO:0005829, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, cytosol, nucleus, chromatin, GO:0070016, GO:0046872, GO:0043565, GO:0030374, GO:0008022, GO:0008013, GO:0005515, GO:0003713, GO:0003713, GO:0003713, GO:0003712, GO:0003682, GO:0000978, GO:0000976, armadillo repeat domain binding, metal ion binding, sequence-specific DNA binding, nuclear receptor coactivator activity, protein C-terminus binding, beta-catenin binding, protein binding, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, chromatin binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0045893, GO:0030518, GO:0016055, GO:0010628, GO:0007165, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, intracellular steroid hormone receptor signaling pathway, Wnt signaling pathway, positive regulation of gene expression, signal transduction, 2231 2715 2846 1313 2210 1794 1553 1811 1724 ENSG00000012963 chr14 93207056 93229215 + UBR7 protein_coding This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]. 55148 GO:0005737, cytoplasm, GO:0061630, GO:0008270, GO:0003674, ubiquitin protein ligase activity, zinc ion binding, molecular_function, GO:0016567, GO:0008150, protein ubiquitination, biological_process, 18 21 6 0 4 16 2 0 4 ENSG00000012983 chr14 50418501 50561126 - MAP4K5 protein_coding This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. 11183 GO:0005737, cytoplasm, GO:0106311, GO:0106310, GO:0008349, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, MAP kinase kinase kinase kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0035556, GO:0007257, GO:0006468, GO:0000185, intracellular signal transduction, activation of JUN kinase activity, protein phosphorylation, activation of MAPKKK activity, 39 73 130 117 49 143 120 30 105 ENSG00000013016 chr2 31234337 31269447 + EHD3 protein_coding 30845 GO:0055038, GO:0055038, GO:0048471, GO:0043231, GO:0030139, GO:0020018, GO:0010008, GO:0005925, GO:0005886, GO:0005829, GO:0005769, GO:0005737, GO:0005737, GO:0005634, recycling endosome membrane, recycling endosome membrane, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, endocytic vesicle, ciliary pocket membrane, endosome membrane, focal adhesion, plasma membrane, cytosol, early endosome, cytoplasm, cytoplasm, nucleus, GO:0005525, GO:0005524, GO:0005515, GO:0005509, GO:0003676, GTP binding, ATP binding, protein binding, calcium ion binding, nucleic acid binding, GO:1903779, GO:1903358, GO:1901387, GO:0090160, GO:0086036, GO:0072659, GO:0072659, GO:0060271, GO:0060271, GO:0055117, GO:0051260, GO:0034498, GO:0032456, GO:0032456, GO:0016197, GO:0015031, GO:0007596, GO:0006897, GO:0001881, regulation of cardiac conduction, regulation of Golgi organization, positive regulation of voltage-gated calcium channel activity, Golgi to lysosome transport, regulation of cardiac muscle cell membrane potential, protein localization to plasma membrane, protein localization to plasma membrane, cilium assembly, cilium assembly, regulation of cardiac muscle contraction, protein homooligomerization, early endosome to Golgi transport, endocytic recycling, endocytic recycling, endosomal transport, protein transport, blood coagulation, endocytosis, receptor recycling, 15 33 13 14 24 30 18 30 12 ENSG00000013275 chr19 39971005 39981441 + PSMC4 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 5704 GO:0045202, GO:0031597, GO:0022624, GO:0016234, GO:0016020, GO:0008540, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000502, synapse, cytosolic proteasome complex, proteasome accessory complex, inclusion body, membrane, proteasome regulatory particle, base subcomplex, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, proteasome complex, GO:0036402, GO:0016887, GO:0005524, GO:0005515, proteasome-activating ATPase activity, ATPase activity, ATP binding, protein binding, GO:1902036, GO:1901990, GO:1901800, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0045899, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0006508, GO:0002479, GO:0002223, GO:0001824, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of proteasomal protein catabolic process, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, positive regulation of RNA polymerase II transcription preinitiation complex assembly, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, proteolysis, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, blastocyst development, protein polyubiquitination, MAPK cascade, 371 391 695 468 481 781 476 414 596 ENSG00000013288 chr4 6575175 6623362 + MAN2B2 protein_coding 23324 GO:0070062, GO:0043202, GO:0005774, GO:0005764, extracellular exosome, lysosomal lumen, vacuolar membrane, lysosome, GO:0046872, GO:0030246, GO:0005515, GO:0004559, metal ion binding, carbohydrate binding, protein binding, alpha-mannosidase activity, GO:0009313, GO:0006013, oligosaccharide catabolic process, mannose metabolic process, 793 1034 1092 525 788 574 570 647 641 ENSG00000013293 chr3 170459584 170586074 - SLC7A14 protein_coding This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]. 57709 GO:0043231, GO:0016021, GO:0005886, GO:0005886, GO:0005829, GO:0005765, GO:0005654, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, plasma membrane, cytosol, lysosomal membrane, nucleoplasm, GO:0015171, GO:0005515, amino acid transmembrane transporter activity, protein binding, GO:0010923, GO:0006865, GO:0003333, negative regulation of phosphatase activity, amino acid transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000013297 chr3 170418865 170454733 + CLDN11 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]. 5010 GO:0070160, GO:0045178, GO:0030424, GO:0030054, GO:0016021, GO:0005923, GO:0005923, GO:0005886, GO:0005886, GO:0005883, GO:0005811, tight junction, basal part of cell, axon, cell junction, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, neurofilament, lipid droplet, GO:0042802, GO:0042802, GO:0005515, GO:0005198, identical protein binding, identical protein binding, protein binding, structural molecule activity, GO:0120192, GO:0070830, GO:0016338, GO:0008366, GO:0007283, GO:0007155, tight junction assembly, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, axon ensheathment, spermatogenesis, cell adhesion, 1 0 0 0 0 0 1 1 0 ENSG00000013306 chr17 44319625 44324870 - SLC25A39 protein_coding This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]. 51629 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0006783, heme biosynthetic process, 29 18 61 151 71 112 143 56 74 ENSG00000013364 chr16 29820394 29848039 + MVP protein_coding This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]. 9961 GO:1904813, GO:0070062, GO:0048471, GO:0034774, GO:0016020, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005643, GO:0005634, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, perinuclear region of cytoplasm, secretory granule lumen, membrane, cytoskeleton, cytosol, cytoplasm, cytoplasm, nuclear pore, nucleus, nucleus, extracellular region, GO:0042802, GO:0019903, GO:0019901, GO:0005515, identical protein binding, protein phosphatase binding, protein kinase binding, protein binding, GO:0061099, GO:0051028, GO:0043312, GO:0042059, GO:0038127, GO:0031953, GO:0015031, negative regulation of protein tyrosine kinase activity, mRNA transport, neutrophil degranulation, negative regulation of epidermal growth factor receptor signaling pathway, ERBB signaling pathway, negative regulation of protein autophosphorylation, protein transport, 4340 4168 4976 4996 5294 5374 4462 3796 4697 ENSG00000013374 chr7 151341699 151378449 + NUB1 protein_coding This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 51667 GO:0005829, GO:0005829, GO:0005730, GO:0005654, cytosol, cytosol, nucleolus, nucleoplasm, GO:0005515, protein binding, GO:2000058, GO:0043687, GO:0034612, GO:0034341, GO:0032436, GO:0016567, GO:0006511, regulation of ubiquitin-dependent protein catabolic process, post-translational protein modification, response to tumor necrosis factor, response to interferon-gamma, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, ubiquitin-dependent protein catabolic process, 1281 1146 1374 904 1049 1241 1062 929 939 ENSG00000013375 chr6 83161150 83193936 - PGM3 protein_coding This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 5238 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0004614, GO:0004610, GO:0004610, GO:0004610, GO:0004610, GO:0000287, phosphoglucomutase activity, phosphoacetylglucosamine mutase activity, phosphoacetylglucosamine mutase activity, phosphoacetylglucosamine mutase activity, phosphoacetylglucosamine mutase activity, magnesium ion binding, GO:0030097, GO:0019255, GO:0007283, GO:0006493, GO:0006487, GO:0006048, GO:0006048, GO:0006048, GO:0006048, GO:0006041, GO:0005975, hemopoiesis, glucose 1-phosphate metabolic process, spermatogenesis, protein O-linked glycosylation, protein N-linked glycosylation, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, glucosamine metabolic process, carbohydrate metabolic process, 68 48 92 107 54 96 86 34 56 ENSG00000013392 chr6 83193379 83198932 + RWDD2A protein_coding 112611 GO:0005515, protein binding, 2 0 0 3 2 6 4 6 3 ENSG00000013441 chr2 200853009 200864744 - CLK1 protein_coding This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. 1195 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0004715, GO:0004712, GO:0004674, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, GO:0046777, GO:0043484, GO:0018108, GO:0018107, GO:0018105, protein autophosphorylation, regulation of RNA splicing, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, 5986 6253 7711 9684 10506 10897 8604 7089 7663 ENSG00000013503 chr12 106357658 106510198 + POLR3B protein_coding This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 55703 GO:0005829, GO:0005666, GO:0005666, GO:0005654, cytosol, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, GO:0046872, GO:0032549, GO:0003899, GO:0003677, metal ion binding, ribonucleoside binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0051607, GO:0045089, GO:0045087, GO:0032728, GO:0032481, GO:0006351, defense response to virus, positive regulation of innate immune response, innate immune response, positive regulation of interferon-beta production, positive regulation of type I interferon production, transcription, DNA-templated, 46 40 46 53 33 45 30 25 34 ENSG00000013523 chr14 76786178 76826246 - ANGEL1 protein_coding 23357 GO:0048471, GO:0005829, GO:0005801, GO:0005783, GO:0005634, perinuclear region of cytoplasm, cytosol, cis-Golgi network, endoplasmic reticulum, nucleus, GO:0019904, GO:0008190, GO:0000175, protein domain specific binding, eukaryotic initiation factor 4E binding, 3'-5'-exoribonuclease activity, GO:0090503, RNA phosphodiester bond hydrolysis, exonucleolytic, 15 10 23 32 24 17 48 11 31 ENSG00000013561 chr5 141958328 141990291 + RNF14 protein_coding The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011]. 9604 GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0000151, cytosol, cytoplasm, cytoplasm, nucleus, ubiquitin ligase complex, GO:0061630, GO:0050681, GO:0046872, GO:0031624, GO:0019787, GO:0005515, GO:0003713, ubiquitin protein ligase activity, androgen receptor binding, metal ion binding, ubiquitin conjugating enzyme binding, ubiquitin-like protein transferase activity, protein binding, transcription coactivator activity, GO:0060765, GO:0045893, GO:0032436, GO:0030521, GO:0016567, GO:0007165, GO:0006511, GO:0006357, GO:0006355, GO:0000209, regulation of androgen receptor signaling pathway, positive regulation of transcription, DNA-templated, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, androgen receptor signaling pathway, protein ubiquitination, signal transduction, ubiquitin-dependent protein catabolic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, protein polyubiquitination, 51 50 82 69 70 56 69 61 85 ENSG00000013563 chrX 154401238 154412112 - DNASE1L1 protein_coding This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]. 1774 GO:0035580, GO:0005783, GO:0005634, GO:0005576, specific granule lumen, endoplasmic reticulum, nucleus, extracellular region, GO:0005515, GO:0004530, GO:0003677, protein binding, deoxyribonuclease I activity, DNA binding, GO:0043312, GO:0006308, GO:0006259, GO:0000737, neutrophil degranulation, DNA catabolic process, DNA metabolic process, DNA catabolic process, endonucleolytic, 186 232 311 121 151 140 163 127 100 ENSG00000013573 chr12 31073845 31104791 + DDX11 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 1663 GO:0070062, GO:0031390, GO:0030892, GO:0030496, GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0001650, GO:0000922, GO:0000785, extracellular exosome, Ctf18 RFC-like complex, mitotic cohesin complex, midbody, centrosome, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, fibrillar center, spindle pole, chromatin, GO:0051880, GO:0051539, GO:0046872, GO:0045142, GO:0008186, GO:0008094, GO:0008094, GO:0005524, GO:0005515, GO:0004386, GO:0003727, GO:0003697, GO:0003690, GO:0003688, GO:0003682, GO:0003682, GO:0003678, GO:0003678, GO:0003677, G-quadruplex DNA binding, 4 iron, 4 sulfur cluster binding, metal ion binding, triplex DNA binding, RNA-dependent ATPase activity, DNA-dependent ATPase activity, DNA-dependent ATPase activity, ATP binding, protein binding, helicase activity, single-stranded RNA binding, single-stranded DNA binding, double-stranded DNA binding, DNA replication origin binding, chromatin binding, chromatin binding, DNA helicase activity, DNA helicase activity, DNA binding, GO:2000781, GO:1990700, GO:1904976, GO:1901838, GO:0072719, GO:0072711, GO:0045876, GO:0044806, GO:0036498, GO:0035563, GO:0034085, GO:0032508, GO:0032508, GO:0032091, GO:0032079, GO:0031297, GO:0016032, GO:0007275, GO:0007062, GO:0006974, GO:0006281, positive regulation of double-strand break repair, nucleolar chromatin organization, cellular response to bleomycin, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, cellular response to cisplatin, cellular response to hydroxyurea, positive regulation of sister chromatid cohesion, G-quadruplex DNA unwinding, IRE1-mediated unfolded protein response, positive regulation of chromatin binding, establishment of sister chromatid cohesion, DNA duplex unwinding, DNA duplex unwinding, negative regulation of protein binding, positive regulation of endodeoxyribonuclease activity, replication fork processing, viral process, multicellular organism development, sister chromatid cohesion, cellular response to DNA damage stimulus, DNA repair, 6 2 9 23 1 14 1 6 14 ENSG00000013583 chr12 12974864 13000273 - HEBP1 protein_coding The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008]. 50865 GO:0070062, GO:0005737, GO:0005576, extracellular exosome, cytoplasm, extracellular region, GO:0020037, GO:0020037, heme binding, heme binding, GO:0007623, GO:0007186, circadian rhythm, G protein-coupled receptor signaling pathway, 45 75 84 17 50 41 19 53 30 ENSG00000013588 chr12 12890782 12917937 + GPRC5A protein_coding This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]. 9052 GO:0070062, GO:0070062, GO:0043235, GO:0043231, GO:0043231, GO:0031982, GO:0030659, GO:0005887, GO:0005886, GO:0005886, GO:0005730, extracellular exosome, extracellular exosome, receptor complex, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, vesicle, cytoplasmic vesicle membrane, integral component of plasma membrane, plasma membrane, plasma membrane, nucleolus, GO:0045296, GO:0030295, GO:0005515, GO:0004930, cadherin binding, protein kinase activator activity, protein binding, G protein-coupled receptor activity, GO:0032147, GO:0007186, GO:0007175, GO:0007165, activation of protein kinase activity, G protein-coupled receptor signaling pathway, negative regulation of epidermal growth factor-activated receptor activity, signal transduction, 0 0 0 6 16 6 0 6 0 ENSG00000013619 chrX 150361422 150514178 + MAMLD1 protein_coding This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. 10046 GO:0016604, GO:0016604, GO:0005813, GO:0005794, GO:0005654, nuclear body, nuclear body, centrosome, Golgi apparatus, nucleoplasm, GO:0003674, molecular_function, GO:0008584, GO:0006357, male gonad development, regulation of transcription by RNA polymerase II, 2 1 1 4 0 5 2 3 2 ENSG00000013725 chr11 60971680 61020377 + CD6 protein_coding This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 923 GO:0042101, GO:0031226, GO:0009897, GO:0005887, GO:0005576, GO:0001772, T cell receptor complex, intrinsic component of plasma membrane, external side of plasma membrane, integral component of plasma membrane, extracellular region, immunological synapse, GO:0070891, GO:0042802, GO:0005515, GO:0005044, GO:0001530, lipoteichoic acid binding, identical protein binding, protein binding, scavenger receptor activity, lipopolysaccharide binding, GO:1900017, GO:0045087, GO:0042102, GO:0032496, GO:0031663, GO:0007157, GO:0006897, GO:0002438, GO:0002250, GO:0001771, positive regulation of cytokine production involved in inflammatory response, innate immune response, positive regulation of T cell proliferation, response to lipopolysaccharide, lipopolysaccharide-mediated signaling pathway, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, endocytosis, acute inflammatory response to antigenic stimulus, adaptive immune response, immunological synapse formation, 272 151 551 617 189 810 572 165 597 ENSG00000013810 chr4 1721490 1745176 + TACC3 protein_coding This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]. 10460 GO:0072686, GO:0043231, GO:0034451, GO:0005829, GO:0005737, GO:0000922, mitotic spindle, intracellular membrane-bounded organelle, centriolar satellite, cytosol, cytoplasm, spindle pole, GO:0005515, protein binding, GO:1902850, GO:0060236, GO:0051301, GO:0021987, GO:0008283, GO:0007091, GO:0007052, GO:0000226, microtubule cytoskeleton organization involved in mitosis, regulation of mitotic spindle organization, cell division, cerebral cortex development, cell population proliferation, metaphase/anaphase transition of mitotic cell cycle, mitotic spindle organization, microtubule cytoskeleton organization, 2204 2448 2292 1541 2571 1660 1752 1906 1678 ENSG00000014123 chr6 96521595 96555276 + UFL1 protein_coding 23376 GO:0043005, GO:0035861, GO:0032991, GO:0016020, GO:0005829, GO:0005789, GO:0005789, GO:0005783, GO:0005737, GO:0005634, neuron projection, site of double-strand break, protein-containing complex, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleus, GO:0071568, GO:0061666, GO:0019901, GO:0005515, UFM1 transferase activity, UFM1 ligase activity, protein kinase binding, protein binding, GO:1990592, GO:1990592, GO:1903895, GO:1902065, GO:0071569, GO:0071569, GO:0061709, GO:0060252, GO:0060218, GO:0050727, GO:0043122, GO:0043066, GO:0034976, GO:0034976, GO:0033146, GO:0032880, GO:0032434, GO:0032434, GO:0032088, GO:0031397, GO:0030218, GO:0016570, GO:0010508, GO:0008284, GO:0006974, GO:0006281, GO:0001649, protein K69-linked ufmylation, protein K69-linked ufmylation, negative regulation of IRE1-mediated unfolded protein response, response to L-glutamate, protein ufmylation, protein ufmylation, reticulophagy, positive regulation of glial cell proliferation, hematopoietic stem cell differentiation, regulation of inflammatory response, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, regulation of intracellular estrogen receptor signaling pathway, regulation of protein localization, regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of NF-kappaB transcription factor activity, negative regulation of protein ubiquitination, erythrocyte differentiation, histone modification, positive regulation of autophagy, positive regulation of cell population proliferation, cellular response to DNA damage stimulus, DNA repair, osteoblast differentiation, 104 81 144 142 78 137 139 55 117 ENSG00000014138 chr11 65261762 65305589 + POLA2 protein_coding 23649 GO:0005829, GO:0005658, GO:0005658, GO:0005654, GO:0005654, cytosol, alpha DNA polymerase:primase complex, alpha DNA polymerase:primase complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003677, GO:0003674, protein binding, DNA binding, molecular_function, GO:0032201, GO:0006270, GO:0006270, GO:0006260, GO:0000082, telomere maintenance via semi-conservative replication, DNA replication initiation, DNA replication initiation, DNA replication, G1/S transition of mitotic cell cycle, 66 46 79 30 55 49 54 29 54 ENSG00000014164 chr8 143437655 143541453 - ZC3H3 protein_coding 23144 GO:0005847, GO:0005634, GO:0005634, mRNA cleavage and polyadenylation specificity factor complex, nucleus, nucleus, GO:0070412, GO:0046872, GO:0003677, GO:0003674, R-SMAD binding, metal ion binding, DNA binding, molecular_function, GO:1900363, GO:0051028, GO:0032927, GO:0031124, regulation of mRNA polyadenylation, mRNA transport, positive regulation of activin receptor signaling pathway, mRNA 3'-end processing, 295 392 362 160 292 222 214 249 187 ENSG00000014216 chr11 65180566 65212006 + CAPN1 protein_coding The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 823 GO:1904813, GO:0070062, GO:0016020, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005764, GO:0005739, GO:0005737, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, membrane, focal adhesion, plasma membrane, plasma membrane, cytosol, cytosol, lysosome, mitochondrion, cytoplasm, extracellular region, GO:0005515, GO:0005509, GO:0004198, GO:0004198, GO:0004198, protein binding, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, calcium-dependent cysteine-type endopeptidase activity, calcium-dependent cysteine-type endopeptidase activity, GO:2000310, GO:0097264, GO:0070268, GO:0060056, GO:0050790, GO:0043312, GO:0032801, GO:0022617, GO:0016241, GO:0008284, GO:0006508, GO:0006508, regulation of NMDA receptor activity, self proteolysis, cornification, mammary gland involution, regulation of catalytic activity, neutrophil degranulation, receptor catabolic process, extracellular matrix disassembly, regulation of macroautophagy, positive regulation of cell population proliferation, proteolysis, proteolysis, 774 957 943 472 754 664 498 624 627 ENSG00000014257 chr3 132317367 132368298 + ACPP protein_coding This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008]. 55 GO:0070062, GO:0035577, GO:0030175, GO:0016021, GO:0012506, GO:0005886, GO:0005886, GO:0005886, GO:0005765, GO:0005764, GO:0005634, GO:0005615, GO:0005615, extracellular exosome, azurophil granule membrane, filopodium, integral component of membrane, vesicle membrane, plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, lysosome, nucleus, extracellular space, extracellular space, GO:0052642, GO:0042803, GO:0042802, GO:0042131, GO:0016791, GO:0016791, GO:0008253, GO:0005515, GO:0003993, GO:0003993, GO:0003993, lysophosphatidic acid phosphatase activity, protein homodimerization activity, identical protein binding, thiamine phosphate phosphatase activity, phosphatase activity, phosphatase activity, 5'-nucleotidase activity, protein binding, acid phosphatase activity, acid phosphatase activity, acid phosphatase activity, GO:0060168, GO:0051930, GO:0046085, GO:0043312, GO:0016311, GO:0016311, GO:0009117, GO:0007040, GO:0006772, GO:0006144, positive regulation of adenosine receptor signaling pathway, regulation of sensory perception of pain, adenosine metabolic process, neutrophil degranulation, dephosphorylation, dephosphorylation, nucleotide metabolic process, lysosome organization, thiamine metabolic process, purine nucleobase metabolic process, 321 476 372 117 354 147 159 260 198 ENSG00000014641 chr2 63588609 63607197 + MDH1 protein_coding This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]. 4190 GO:0070062, GO:0005829, GO:0005829, GO:0005615, extracellular exosome, cytosol, cytosol, extracellular space, GO:0047860, GO:0030060, GO:0005515, GO:0004470, diiodophenylpyruvate reductase activity, L-malate dehydrogenase activity, protein binding, malic enzyme activity, GO:0006734, GO:0006108, GO:0006107, GO:0006099, GO:0006094, NADH metabolic process, malate metabolic process, oxaloacetate metabolic process, tricarboxylic acid cycle, gluconeogenesis, 46 53 88 113 65 128 75 48 112 ENSG00000014824 chr4 41990472 42090457 + SLC30A9 protein_coding 10463 GO:0031410, GO:0016021, GO:0005856, GO:0005783, GO:0005634, GO:0005634, cytoplasmic vesicle, integral component of membrane, cytoskeleton, endoplasmic reticulum, nucleus, nucleus, GO:0030374, GO:0016922, GO:0008324, GO:0003682, nuclear receptor coactivator activity, nuclear receptor binding, cation transmembrane transporter activity, chromatin binding, GO:0098655, GO:0045944, GO:0006882, GO:0006829, GO:0006829, GO:0006289, cation transmembrane transport, positive regulation of transcription by RNA polymerase II, cellular zinc ion homeostasis, zinc ion transport, zinc ion transport, nucleotide-excision repair, 163 181 194 193 170 233 152 143 189 ENSG00000014914 chr1 149928651 149936869 - MTMR11 protein_coding 10903 GO:0070062, GO:0016020, GO:0005737, GO:0005737, extracellular exosome, membrane, cytoplasm, cytoplasm, GO:0004438, phosphatidylinositol-3-phosphatase activity, GO:0046856, phosphatidylinositol dephosphorylation, 6 2 18 7 8 5 9 2 0 ENSG00000014919 chr10 99711844 99732100 - COX15 protein_coding Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]. 1355 GO:0070069, GO:0016021, GO:0005746, GO:0005743, GO:0005743, GO:0005739, GO:0005654, cytochrome complex, integral component of membrane, mitochondrial respirasome, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0060090, GO:0020037, GO:0016653, GO:0016627, GO:0005515, GO:0004129, molecular adaptor activity, heme binding, oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor, oxidoreductase activity, acting on the CH-CH group of donors, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0055114, GO:0045333, GO:0008535, GO:0007585, GO:0006784, GO:0006784, GO:0006784, GO:0006783, GO:0006123, proton transmembrane transport, oxidation-reduction process, cellular respiration, respiratory chain complex IV assembly, respiratory gaseous exchange by respiratory system, heme A biosynthetic process, heme A biosynthetic process, heme A biosynthetic process, heme biosynthetic process, mitochondrial electron transport, cytochrome c to oxygen, 90 100 131 61 127 106 69 87 90 ENSG00000015133 chr14 91271323 91417844 - CCDC88C protein_coding This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]. 440193 GO:0030054, GO:0005813, GO:0005737, GO:0005737, cell junction, centrosome, cytoplasm, cytoplasm, GO:0051959, GO:0043621, GO:0042802, GO:0030165, GO:0008017, GO:0005515, GO:0005109, GO:0005085, GO:0001965, dynein light intermediate chain binding, protein self-association, identical protein binding, PDZ domain binding, microtubule binding, protein binding, frizzled binding, guanyl-nucleotide exchange factor activity, G-protein alpha-subunit binding, GO:0090090, GO:0035567, GO:0031648, GO:0031122, GO:0031098, GO:0030705, GO:0007264, GO:0003383, GO:0001932, negative regulation of canonical Wnt signaling pathway, non-canonical Wnt signaling pathway, protein destabilization, cytoplasmic microtubule organization, stress-activated protein kinase signaling cascade, cytoskeleton-dependent intracellular transport, small GTPase mediated signal transduction, apical constriction, regulation of protein phosphorylation, 267 277 565 382 239 710 466 214 478 ENSG00000015153 chr12 42157104 42238349 - YAF2 protein_coding This gene encodes a zinc finger containing protein that functions in the regulation of transcription. This protein was identified as an interacting partner of transcriptional repressor protein Yy1, and also interacts with other transcriptional regulators, including Myc and Polycomb. This protein can promote proteolysis of Yy1. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2016]. 10138 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003714, GO:0003713, GO:0003712, GO:0003677, metal ion binding, protein binding, transcription corepressor activity, transcription coactivator activity, transcription coregulator activity, DNA binding, GO:0070317, GO:0045893, GO:0045892, GO:0006355, negative regulation of G0 to G1 transition, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 229 155 242 153 177 195 190 171 238 ENSG00000015171 chr10 134465 254637 + ZMYND11 protein_coding The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 10771 GO:0005694, GO:0005654, GO:0005634, chromosome, nucleoplasm, nucleus, GO:0035064, GO:0035064, GO:0008270, GO:0008270, GO:0005515, GO:0003714, GO:0003690, methylated histone binding, methylated histone binding, zinc ion binding, zinc ion binding, protein binding, transcription corepressor activity, double-stranded DNA binding, GO:2001237, GO:0051607, GO:0046329, GO:0045892, GO:0043124, GO:0034243, GO:0016032, GO:0007049, GO:0006325, negative regulation of extrinsic apoptotic signaling pathway, defense response to virus, negative regulation of JNK cascade, negative regulation of transcription, DNA-templated, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of transcription elongation from RNA polymerase II promoter, viral process, cell cycle, chromatin organization, 72 45 127 196 55 220 100 45 150 ENSG00000015285 chrX 48676596 48691427 + WAS protein_coding The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]. 7454 GO:0070062, GO:0045335, GO:0035861, GO:0015629, GO:0012506, GO:0005911, GO:0005886, GO:0005884, GO:0005884, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, phagocytic vesicle, site of double-strand break, actin cytoskeleton, vesicle membrane, cell-cell junction, plasma membrane, actin filament, actin filament, cytosol, cytosol, nucleus, GO:0043274, GO:0042802, GO:0031267, GO:0030695, GO:0019901, GO:0017124, GO:0005515, GO:0003779, phospholipase binding, identical protein binding, small GTPase binding, GTPase regulator activity, protein kinase binding, SH3 domain binding, protein binding, actin binding, GO:2001032, GO:2000601, GO:2000146, GO:1905168, GO:0071346, GO:0065003, GO:0051497, GO:0051492, GO:0050852, GO:0050790, GO:0045944, GO:0042110, GO:0038096, GO:0032488, GO:0030048, GO:0030041, GO:0016197, GO:0010591, GO:0008544, GO:0008154, GO:0008064, GO:0007596, GO:0007266, GO:0006955, GO:0006952, GO:0002625, regulation of double-strand break repair via nonhomologous end joining, positive regulation of Arp2/3 complex-mediated actin nucleation, negative regulation of cell motility, positive regulation of double-strand break repair via homologous recombination, cellular response to interferon-gamma, protein-containing complex assembly, negative regulation of stress fiber assembly, regulation of stress fiber assembly, T cell receptor signaling pathway, regulation of catalytic activity, positive regulation of transcription by RNA polymerase II, T cell activation, Fc-gamma receptor signaling pathway involved in phagocytosis, Cdc42 protein signal transduction, actin filament-based movement, actin filament polymerization, endosomal transport, regulation of lamellipodium assembly, epidermis development, actin polymerization or depolymerization, regulation of actin polymerization or depolymerization, blood coagulation, Rho protein signal transduction, immune response, defense response, regulation of T cell antigen processing and presentation, 5652 6489 7037 2387 4954 3300 3177 4426 3401 ENSG00000015413 chr16 89613308 89638456 + DPEP1 protein_coding The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]. 1800 GO:0070062, GO:0045177, GO:0031528, GO:0031225, GO:0030054, GO:0016324, GO:0005886, GO:0005886, GO:0005886, GO:0005654, GO:0005615, extracellular exosome, apical part of cell, microvillus membrane, anchored component of membrane, cell junction, apical plasma membrane, plasma membrane, plasma membrane, plasma membrane, nucleoplasm, extracellular space, GO:0072341, GO:0070573, GO:0043027, GO:0034235, GO:0008800, GO:0008270, GO:0008235, GO:0005515, modified amino acid binding, metallodipeptidase activity, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, GPI anchor binding, beta-lactamase activity, zinc ion binding, metalloexopeptidase activity, protein binding, GO:0072340, GO:0071732, GO:0071277, GO:0050667, GO:0043154, GO:0043066, GO:0035690, GO:0030593, GO:0030336, GO:0016999, GO:0006954, GO:0006915, GO:0006805, GO:0006751, GO:0006749, GO:0006691, GO:0006629, GO:0006508, cellular lactam catabolic process, cellular response to nitric oxide, cellular response to calcium ion, homocysteine metabolic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, cellular response to drug, neutrophil chemotaxis, negative regulation of cell migration, antibiotic metabolic process, inflammatory response, apoptotic process, xenobiotic metabolic process, glutathione catabolic process, glutathione metabolic process, leukotriene metabolic process, lipid metabolic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000015475 chr22 17734138 17774770 - BID protein_coding This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Aug 2020]. 637 GO:0032592, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005741, GO:0005741, GO:0005739, integral component of mitochondrial membrane, membrane, cytosol, cytosol, cytosol, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, GO:0031625, GO:0005515, GO:0005123, ubiquitin protein ligase binding, protein binding, death receptor binding, GO:2001244, GO:2001244, GO:2001244, GO:2001238, GO:2001238, GO:2000271, GO:2000045, GO:1902230, GO:1901030, GO:1900740, GO:0097345, GO:0097284, GO:0090200, GO:0090200, GO:0090200, GO:0090150, GO:0065003, GO:0051402, GO:0043066, GO:0043065, GO:0042981, GO:0042775, GO:0042770, GO:0042127, GO:0031334, GO:0010918, GO:0008637, GO:0008625, GO:0006919, GO:0006626, GO:0001836, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of fibroblast apoptotic process, regulation of G1/S transition of mitotic cell cycle, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, mitochondrial outer membrane permeabilization, hepatocyte apoptotic process, positive regulation of release of cytochrome c from mitochondria, positive regulation of release of cytochrome c from mitochondria, positive regulation of release of cytochrome c from mitochondria, establishment of protein localization to membrane, protein-containing complex assembly, neuron apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, mitochondrial ATP synthesis coupled electron transport, signal transduction in response to DNA damage, regulation of cell population proliferation, positive regulation of protein-containing complex assembly, positive regulation of mitochondrial membrane potential, apoptotic mitochondrial changes, extrinsic apoptotic signaling pathway via death domain receptors, activation of cysteine-type endopeptidase activity involved in apoptotic process, protein targeting to mitochondrion, release of cytochrome c from mitochondria, 2484 2331 5499 666 1350 1371 850 1162 1220 ENSG00000015479 chr5 139293648 139331677 + MATR3 protein_coding This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]. 9782 GO:0016363, GO:0016020, GO:0005637, GO:0005634, nuclear matrix, membrane, nuclear inner membrane, nucleus, GO:0042802, GO:0035198, GO:0008270, GO:0005515, GO:0005198, GO:0003729, GO:0003723, identical protein binding, miRNA binding, zinc ion binding, protein binding, structural molecule activity, mRNA binding, RNA binding, GO:0045087, GO:0010608, GO:0006417, GO:0003281, GO:0003170, GO:0002218, innate immune response, posttranscriptional regulation of gene expression, regulation of translation, ventricular septum development, heart valve development, activation of innate immune response, 109 136 114 73 91 130 114 64 131 ENSG00000015520 chr7 44512535 44541315 - NPC1L1 protein_coding The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 29881 GO:0044214, GO:0031526, GO:0030659, GO:0016324, GO:0005886, spanning component of plasma membrane, brush border membrane, cytoplasmic vesicle membrane, apical plasma membrane, plasma membrane, GO:0031489, GO:0031267, GO:0008144, GO:0005515, myosin V binding, small GTPase binding, drug binding, protein binding, GO:0098856, GO:0071501, GO:0042493, GO:0042157, GO:0030301, GO:0030299, GO:0014850, GO:0006695, intestinal lipid absorption, cellular response to sterol depletion, response to drug, lipoprotein metabolic process, cholesterol transport, intestinal cholesterol absorption, response to muscle activity, cholesterol biosynthetic process, 1 0 1 0 4 0 0 1 5 ENSG00000015532 chr17 50346092 50363138 + XYLT2 protein_coding The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. 64132 GO:0016021, GO:0005615, GO:0000139, integral component of membrane, extracellular space, Golgi membrane, GO:0030158, GO:0030158, GO:0030158, GO:0030145, GO:0000287, protein xylosyltransferase activity, protein xylosyltransferase activity, protein xylosyltransferase activity, manganese ion binding, magnesium ion binding, GO:0050650, GO:0050650, GO:0030210, GO:0030206, GO:0030203, GO:0015012, GO:0015012, GO:0015012, GO:0006024, chondroitin sulfate proteoglycan biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process, heparin biosynthetic process, chondroitin sulfate biosynthetic process, glycosaminoglycan metabolic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, glycosaminoglycan biosynthetic process, 32 34 46 73 70 67 61 43 65 ENSG00000015568 chr2 109792758 109857695 + RGPD5 protein_coding RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq, Jul 2008]. 84220 GO:0005737, GO:0005643, cytoplasm, nuclear pore, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0043547, GO:0006607, positive regulation of GTPase activity, NLS-bearing protein import into nucleus, 27 22 15 20 4 19 6 7 11 ENSG00000015592 chr8 27235323 27258420 - STMN4 protein_coding 81551 GO:0043005, GO:0030426, GO:0005794, GO:0005737, neuron projection, growth cone, Golgi apparatus, cytoplasm, GO:0015631, tubulin binding, GO:0031175, GO:0031110, GO:0007019, neuron projection development, regulation of microtubule polymerization or depolymerization, microtubule depolymerization, 0 0 0 4 0 0 0 0 0 ENSG00000015676 chr7 44379121 44490880 - NUDCD3 protein_coding The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008]. 23386 GO:0005868, GO:0005737, cytoplasmic dynein complex, cytoplasm, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:1905793, GO:0060271, GO:0032502, GO:0006457, protein localization to pericentriolar material, cilium assembly, developmental process, protein folding, 161 196 174 207 213 249 216 180 204 ENSG00000016082 chr5 51383391 51394738 + ISL1 protein_coding This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]. 3670 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:1990841, GO:1990837, GO:0046872, GO:0043425, GO:0030331, GO:0016922, GO:0005515, GO:0001228, GO:0001102, GO:0000987, GO:0000987, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, metal ion binding, bHLH transcription factor binding, estrogen receptor binding, nuclear receptor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, cis-regulatory region sequence-specific DNA binding, cis-regulatory region sequence-specific DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901258, GO:0090090, GO:0071657, GO:0071385, GO:0060913, GO:0060413, GO:0060384, GO:0060379, GO:0060037, GO:0055010, GO:0050728, GO:0050680, GO:0048936, GO:0048880, GO:0048762, GO:0048665, GO:0048665, GO:0045944, GO:0045944, GO:0045944, GO:0045766, GO:0045665, GO:0045597, GO:0043524, GO:0043388, GO:0042531, GO:0035066, GO:0033147, GO:0032760, GO:0032755, GO:0032735, GO:0032731, GO:0032730, GO:0032729, GO:0032725, GO:0032024, GO:0031333, GO:0031290, GO:0031103, GO:0031016, GO:0021983, GO:0021559, GO:0021524, GO:0021522, GO:0021520, GO:0010718, GO:0010575, GO:0008284, GO:0007507, GO:0007409, GO:0006357, GO:0003266, GO:0003215, GO:0003203, GO:0003151, GO:0003148, GO:0003139, GO:0001755, GO:0000122, positive regulation of macrophage colony-stimulating factor production, negative regulation of canonical Wnt signaling pathway, positive regulation of granulocyte colony-stimulating factor production, cellular response to glucocorticoid stimulus, cardiac cell fate determination, atrial septum morphogenesis, innervation, cardiac muscle cell myoblast differentiation, pharyngeal system development, ventricular cardiac muscle tissue morphogenesis, negative regulation of inflammatory response, negative regulation of epithelial cell proliferation, peripheral nervous system neuron axonogenesis, sensory system development, mesenchymal cell differentiation, neuron fate specification, neuron fate specification, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, negative regulation of neuron differentiation, positive regulation of cell differentiation, negative regulation of neuron apoptotic process, positive regulation of DNA binding, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of histone acetylation, negative regulation of intracellular estrogen receptor signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 alpha production, positive regulation of interferon-gamma production, positive regulation of granulocyte macrophage colony-stimulating factor production, positive regulation of insulin secretion, negative regulation of protein-containing complex assembly, retinal ganglion cell axon guidance, axon regeneration, pancreas development, pituitary gland development, trigeminal nerve development, visceral motor neuron differentiation, spinal cord motor neuron differentiation, spinal cord motor neuron cell fate specification, positive regulation of epithelial to mesenchymal transition, positive regulation of vascular endothelial growth factor production, positive regulation of cell population proliferation, heart development, axonogenesis, regulation of transcription by RNA polymerase II, regulation of secondary heart field cardioblast proliferation, cardiac right ventricle morphogenesis, endocardial cushion morphogenesis, outflow tract morphogenesis, outflow tract septum morphogenesis, secondary heart field specification, neural crest cell migration, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000016391 chr3 53812335 53846390 - CHDH protein_coding The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]. 55349 GO:0005743, GO:0005743, mitochondrial inner membrane, mitochondrial inner membrane, GO:0050660, GO:0016491, GO:0008812, GO:0008812, GO:0005515, flavin adenine dinucleotide binding, oxidoreductase activity, choline dehydrogenase activity, choline dehydrogenase activity, protein binding, GO:0055114, GO:0042426, GO:0019285, oxidation-reduction process, choline catabolic process, glycine betaine biosynthetic process from choline, 3 0 1 4 8 11 5 1 0 ENSG00000016402 chr6 136999971 137045180 - IL20RA protein_coding This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 53832 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0042015, GO:0005515, GO:0004896, interleukin-20 binding, protein binding, cytokine receptor activity, GO:2001244, GO:0045124, GO:0019221, GO:0019221, positive regulation of intrinsic apoptotic signaling pathway, regulation of bone resorption, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000016490 chr1 86468368 86500289 + CLCA1 protein_coding This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]. 1179 GO:0030141, GO:0005902, GO:0005887, GO:0005886, GO:0005615, secretory granule, microvillus, integral component of plasma membrane, plasma membrane, extracellular space, GO:0046872, GO:0008237, GO:0005254, GO:0005229, metal ion binding, metallopeptidase activity, chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0034220, GO:0006816, GO:0006508, chloride transmembrane transport, ion transmembrane transport, calcium ion transport, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000016602 chr1 86547078 86580754 + CLCA4 protein_coding The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Alternative splicing results in multiple transcript variants, only one of which is thought to be protein coding. [provided by RefSeq, Dec 2008]. 22802 GO:0016324, GO:0005887, GO:0005886, GO:0005576, apical plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0046872, GO:0008237, GO:0005254, GO:0005229, metal ion binding, metallopeptidase activity, chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0034220, GO:0006508, chloride transmembrane transport, ion transmembrane transport, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000016864 chr3 52694488 52706032 - GLT8D1 protein_coding This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]. 55830 GO:0016021, GO:0016020, GO:0005794, integral component of membrane, membrane, Golgi apparatus, GO:0016757, transferase activity, transferring glycosyl groups, 70 93 60 79 101 88 75 78 64 ENSG00000017260 chr3 130850595 131016712 + ATP2C1 protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 27032 GO:0016021, GO:0016020, GO:0005886, GO:0005802, GO:0005794, GO:0005783, GO:0000139, GO:0000139, GO:0000139, integral component of membrane, membrane, plasma membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum, Golgi membrane, Golgi membrane, Golgi membrane, GO:0046872, GO:0016887, GO:0015410, GO:0008553, GO:0005524, GO:0005388, GO:0005388, GO:0005388, metal ion binding, ATPase activity, manganese transmembrane transporter activity, phosphorylative mechanism, proton-exporting ATPase activity, phosphorylative mechanism, ATP binding, calcium transmembrane transporter activity, phosphorylative mechanism, calcium transmembrane transporter activity, phosphorylative mechanism, calcium transmembrane transporter activity, phosphorylative mechanism, GO:1902600, GO:0071421, GO:0070588, GO:0043123, GO:0034220, GO:0032472, GO:0032468, GO:0031532, GO:0016339, GO:0008544, GO:0006874, GO:0006874, GO:0006874, GO:0006828, GO:0006816, GO:0006816, proton transmembrane transport, manganese ion transmembrane transport, calcium ion transmembrane transport, positive regulation of I-kappaB kinase/NF-kappaB signaling, ion transmembrane transport, Golgi calcium ion transport, Golgi calcium ion homeostasis, actin cytoskeleton reorganization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, epidermis development, cellular calcium ion homeostasis, cellular calcium ion homeostasis, cellular calcium ion homeostasis, manganese ion transport, calcium ion transport, calcium ion transport, 371 326 433 311 288 341 368 249 291 ENSG00000017427 chr12 102395874 102481744 - IGF1 protein_coding The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]. 3479 GO:0070382, GO:0042567, GO:0035867, GO:0031093, GO:0016942, GO:0005615, GO:0005576, GO:0005576, exocytic vesicle, insulin-like growth factor ternary complex, alphav-beta3 integrin-IGF-1-IGF1R complex, platelet alpha granule lumen, insulin-like growth factor binding protein complex, extracellular space, extracellular region, extracellular region, GO:0008083, GO:0005515, GO:0005179, GO:0005178, GO:0005159, GO:0005159, GO:0005159, GO:0005158, growth factor activity, protein binding, hormone activity, integrin binding, insulin-like growth factor receptor binding, insulin-like growth factor receptor binding, insulin-like growth factor receptor binding, insulin receptor binding, GO:2001237, GO:2000679, GO:1905460, GO:1904707, GO:1904646, GO:1904075, GO:1902430, GO:0150079, GO:0090201, GO:0070886, GO:0070371, GO:0061051, GO:0061051, GO:0060283, GO:0051450, GO:0050821, GO:0050731, GO:0050714, GO:0050679, GO:0048661, GO:0048146, GO:0048015, GO:0048009, GO:0046579, GO:0046326, GO:0045944, GO:0045893, GO:0045893, GO:0045840, GO:0045821, GO:0045725, GO:0045669, GO:0045445, GO:0044267, GO:0043568, GO:0043491, GO:0043410, GO:0043388, GO:0043066, GO:0042531, GO:0042104, GO:0042060, GO:0040014, GO:0035630, GO:0034392, GO:0032720, GO:0032691, GO:0032148, GO:0030335, GO:0030166, GO:0030166, GO:0014911, GO:0014904, GO:0014896, GO:0014834, GO:0014068, GO:0014065, GO:0010629, GO:0010628, GO:0010613, GO:0010613, GO:0010560, GO:0010468, GO:0009441, GO:0009408, GO:0008284, GO:0008284, GO:0008283, GO:0007517, GO:0007265, GO:0007165, GO:0002576, GO:0001775, GO:0001501, GO:0000187, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of transcription regulatory region DNA binding, negative regulation of vascular associated smooth muscle cell apoptotic process, positive regulation of vascular associated smooth muscle cell proliferation, cellular response to amyloid-beta, positive regulation of trophectodermal cell proliferation, negative regulation of amyloid-beta formation, negative regulation of neuroinflammatory response, negative regulation of release of cytochrome c from mitochondria, positive regulation of calcineurin-NFAT signaling cascade, ERK1 and ERK2 cascade, positive regulation of cell growth involved in cardiac muscle cell development, positive regulation of cell growth involved in cardiac muscle cell development, negative regulation of oocyte development, myoblast proliferation, protein stabilization, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of protein secretion, positive regulation of epithelial cell proliferation, positive regulation of smooth muscle cell proliferation, positive regulation of fibroblast proliferation, phosphatidylinositol-mediated signaling, insulin-like growth factor receptor signaling pathway, positive regulation of Ras protein signal transduction, positive regulation of glucose import, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of mitotic nuclear division, positive regulation of glycolytic process, positive regulation of glycogen biosynthetic process, positive regulation of osteoblast differentiation, myoblast differentiation, cellular protein metabolic process, positive regulation of insulin-like growth factor receptor signaling pathway, protein kinase B signaling, positive regulation of MAPK cascade, positive regulation of DNA binding, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of activated T cell proliferation, wound healing, regulation of multicellular organism growth, bone mineralization involved in bone maturation, negative regulation of smooth muscle cell apoptotic process, negative regulation of tumor necrosis factor production, negative regulation of interleukin-1 beta production, activation of protein kinase B activity, positive regulation of cell migration, proteoglycan biosynthetic process, proteoglycan biosynthetic process, positive regulation of smooth muscle cell migration, myotube cell development, muscle hypertrophy, skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, negative regulation of gene expression, positive regulation of gene expression, positive regulation of cardiac muscle hypertrophy, positive regulation of cardiac muscle hypertrophy, positive regulation of glycoprotein biosynthetic process, regulation of gene expression, glycolate metabolic process, response to heat, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell population proliferation, muscle organ development, Ras protein signal transduction, signal transduction, platelet degranulation, cell activation, skeletal system development, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000017483 chrX 48458537 48470256 - SLC38A5 protein_coding The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]. 92745 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0022889, GO:0022858, GO:0015194, GO:0015187, GO:0015187, GO:0015186, GO:0015186, GO:0015186, GO:0015182, GO:0015171, GO:0015171, GO:0005290, GO:0005290, serine transmembrane transporter activity, alanine transmembrane transporter activity, L-serine transmembrane transporter activity, glycine transmembrane transporter activity, glycine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-asparagine transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, L-histidine transmembrane transporter activity, L-histidine transmembrane transporter activity, GO:1904557, GO:1903713, GO:0150104, GO:0089709, GO:0089709, GO:0089709, GO:0032329, GO:0032329, GO:0015825, GO:0015816, GO:0015816, GO:0006868, GO:0006868, GO:0006868, GO:0006865, GO:0003333, L-alanine transmembrane transport, asparagine transmembrane transport, transport across blood-brain barrier, L-histidine transmembrane transport, L-histidine transmembrane transport, L-histidine transmembrane transport, serine transport, serine transport, L-serine transport, glycine transport, glycine transport, glutamine transport, glutamine transport, glutamine transport, amino acid transport, amino acid transmembrane transport, 4 7 5 36 12 15 28 5 29 ENSG00000017797 chr18 9475009 9538116 + RALBP1 protein_coding RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]. 10928 GO:0016020, GO:0016020, GO:0005829, membrane, membrane, cytosol, GO:0042910, GO:0042626, GO:0042626, GO:0031267, GO:0031267, GO:0022857, GO:0005515, GO:0005096, GO:0005096, xenobiotic transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, small GTPase binding, small GTPase binding, transmembrane transporter activity, protein binding, GTPase activator activity, GTPase activator activity, GO:1990961, GO:1900753, GO:0055085, GO:0051056, GO:0043547, GO:0043547, GO:0043087, GO:0007264, GO:0007264, GO:0006935, GO:0006897, xenobiotic detoxification by transmembrane export across the plasma membrane, doxorubicin transport, transmembrane transport, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, positive regulation of GTPase activity, regulation of GTPase activity, small GTPase mediated signal transduction, small GTPase mediated signal transduction, chemotaxis, endocytosis, 2493 2634 3226 541 1528 983 821 1380 1115 ENSG00000018189 chr4 70704204 70807315 + RUFY3 protein_coding This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 22902 GO:0071437, GO:0043204, GO:0043025, GO:0030426, GO:0030425, GO:0030425, GO:0030424, GO:0030424, GO:0030175, GO:0030054, GO:0030027, GO:0016020, GO:0012505, GO:0005829, GO:0005737, GO:0005737, invadopodium, perikaryon, neuronal cell body, growth cone, dendrite, dendrite, axon, axon, filopodium, cell junction, lamellipodium, membrane, endomembrane system, cytosol, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:2000114, GO:0090316, GO:0050771, GO:0050770, GO:0045773, GO:0030335, GO:0007015, regulation of establishment of cell polarity, positive regulation of intracellular protein transport, negative regulation of axonogenesis, regulation of axonogenesis, positive regulation of axon extension, positive regulation of cell migration, actin filament organization, 15 23 46 48 25 60 60 14 62 ENSG00000018236 chr12 40692442 41072418 + CNTN1 protein_coding The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 1272 GO:0099025, GO:0070062, GO:0045121, GO:0016020, anchored component of postsynaptic membrane, extracellular exosome, membrane raft, membrane, GO:0030246, GO:0005515, carbohydrate binding, protein binding, GO:0050731, GO:0031175, GO:0021549, GO:0010976, GO:0010765, GO:0010628, GO:0007219, GO:0007155, positive regulation of peptidyl-tyrosine phosphorylation, neuron projection development, cerebellum development, positive regulation of neuron projection development, positive regulation of sodium ion transport, positive regulation of gene expression, Notch signaling pathway, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000018280 chr2 218382029 218396894 + SLC11A1 protein_coding This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. 6556 GO:0101003, GO:0070821, GO:0070821, GO:0031902, GO:0030670, GO:0030670, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005770, GO:0005764, ficolin-1-rich granule membrane, tertiary granule membrane, tertiary granule membrane, late endosome membrane, phagocytic vesicle membrane, phagocytic vesicle membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, late endosome, lysosome, GO:0051139, GO:0051139, GO:0051139, GO:0046915, GO:0042803, GO:0015086, GO:0005384, GO:0005384, GO:0005381, metal ion:proton antiporter activity, metal ion:proton antiporter activity, metal ion:proton antiporter activity, transition metal ion transmembrane transporter activity, protein homodimerization activity, cadmium ion transmembrane transporter activity, manganese ion transmembrane transporter activity, manganese ion transmembrane transporter activity, iron ion transmembrane transporter activity, GO:1902023, GO:0071421, GO:0070839, GO:0070574, GO:0060586, GO:0055072, GO:0050829, GO:0050766, GO:0048255, GO:0048002, GO:0045944, GO:0045730, GO:0045454, GO:0045342, GO:0043312, GO:0042832, GO:0042742, GO:0042116, GO:0042060, GO:0034755, GO:0034341, GO:0032729, GO:0032632, GO:0032623, GO:0032496, GO:0032496, GO:0032147, GO:0019730, GO:0015707, GO:0010628, GO:0009617, GO:0007035, GO:0006954, GO:0006909, GO:0006879, GO:0006879, GO:0006876, GO:0006876, GO:0006828, GO:0006826, GO:0002827, GO:0002606, GO:0002369, GO:0002309, GO:0001819, GO:0001818, L-arginine transport, manganese ion transmembrane transport, divalent metal ion export, cadmium ion transmembrane transport, multicellular organismal iron ion homeostasis, iron ion homeostasis, defense response to Gram-negative bacterium, positive regulation of phagocytosis, mRNA stabilization, antigen processing and presentation of peptide antigen, positive regulation of transcription by RNA polymerase II, respiratory burst, cell redox homeostasis, MHC class II biosynthetic process, neutrophil degranulation, defense response to protozoan, defense response to bacterium, macrophage activation, wound healing, iron ion transmembrane transport, response to interferon-gamma, positive regulation of interferon-gamma production, interleukin-3 production, interleukin-2 production, response to lipopolysaccharide, response to lipopolysaccharide, activation of protein kinase activity, antimicrobial humoral response, nitrite transport, positive regulation of gene expression, response to bacterium, vacuolar acidification, inflammatory response, phagocytosis, cellular iron ion homeostasis, cellular iron ion homeostasis, cellular cadmium ion homeostasis, cellular cadmium ion homeostasis, manganese ion transport, iron ion transport, positive regulation of T-helper 1 type immune response, positive regulation of dendritic cell antigen processing and presentation, T cell cytokine production, T cell proliferation involved in immune response, positive regulation of cytokine production, negative regulation of cytokine production, 12522 13795 16216 9415 13594 12341 9873 9184 10072 ENSG00000018408 chr3 149517235 149736714 - WWTR1 protein_coding 25937 GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, nuclear body, cytosol, cytosol, cytoplasm, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0042803, GO:0005515, GO:0003714, GO:0003713, GO:0003713, GO:0003713, protein homodimerization activity, protein binding, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, GO:1900182, GO:0090090, GO:0072307, GO:0060993, GO:0060390, GO:0060271, GO:0048762, GO:0045944, GO:0045944, GO:0045669, GO:0045599, GO:0035329, GO:0035329, GO:0035329, GO:0035264, GO:0032835, GO:0031146, GO:0017145, GO:0016567, GO:0010718, GO:0008284, GO:0006469, GO:0006367, GO:0006355, GO:0003015, GO:0001933, GO:0001894, GO:0001649, GO:0000122, positive regulation of protein localization to nucleus, negative regulation of canonical Wnt signaling pathway, regulation of metanephric nephron tubule epithelial cell differentiation, kidney morphogenesis, regulation of SMAD protein signal transduction, cilium assembly, mesenchymal cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, hippo signaling, hippo signaling, hippo signaling, multicellular organism growth, glomerulus development, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, stem cell division, protein ubiquitination, positive regulation of epithelial to mesenchymal transition, positive regulation of cell population proliferation, negative regulation of protein kinase activity, transcription initiation from RNA polymerase II promoter, regulation of transcription, DNA-templated, heart process, negative regulation of protein phosphorylation, tissue homeostasis, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, 0 2 3 0 1 9 6 1 2 ENSG00000018510 chr2 177392644 177559299 + AGPS protein_coding This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]. 8540 GO:0016020, GO:0005829, GO:0005782, GO:0005778, GO:0005777, GO:0005739, GO:0005730, membrane, cytosol, peroxisomal matrix, peroxisomal membrane, peroxisome, mitochondrion, nucleolus, GO:0071949, GO:0016491, GO:0008609, GO:0005515, FAD binding, oxidoreductase activity, alkylglycerone-phosphate synthase activity, protein binding, GO:0055114, GO:0008611, GO:0008611, GO:0008611, GO:0008610, GO:0006625, oxidation-reduction process, ether lipid biosynthetic process, ether lipid biosynthetic process, ether lipid biosynthetic process, lipid biosynthetic process, protein targeting to peroxisome, 91 118 134 93 60 100 92 93 101 ENSG00000018607 chr2 132309309 132318736 + ZNF806 unprocessed_pseudogene 646915 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000018610 chrX 119538149 119565408 - CXorf56 protein_coding While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 63932 GO:0044297, GO:0005737, GO:0005634, cell body, cytoplasm, nucleus, GO:0005515, protein binding, 118 90 111 91 120 105 84 92 75 ENSG00000018625 chr1 160115759 160143591 + ATP1A2 protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]. 477 GO:1903561, GO:0043197, GO:0043025, GO:0042995, GO:0031090, GO:0030315, GO:0016020, GO:0016020, GO:0014704, GO:0005901, GO:0005890, GO:0005890, GO:0005890, GO:0005890, GO:0005886, GO:0005886, GO:0005886, GO:0005768, GO:0005737, extracellular vesicle, dendritic spine, neuronal cell body, cell projection, organelle membrane, T-tubule, membrane, membrane, intercalated disc, caveola, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, plasma membrane, plasma membrane, plasma membrane, endosome, cytoplasm, GO:1990239, GO:0051087, GO:0046982, GO:0031402, GO:0030955, GO:0019829, GO:0019829, GO:0016887, GO:0016791, GO:0008144, GO:0005524, GO:0005515, GO:0005391, GO:0005391, GO:0005391, GO:0005391, GO:0005391, GO:0005391, steroid hormone binding, chaperone binding, protein heterodimerization activity, sodium ion binding, potassium ion binding, ATPase-coupled cation transmembrane transporter activity, ATPase-coupled cation transmembrane transporter activity, ATPase activity, phosphatase activity, drug binding, ATP binding, protein binding, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, GO:1990573, GO:1990573, GO:1990573, GO:1903779, GO:1903416, GO:1903416, GO:1903280, GO:1903170, GO:1902600, GO:0150104, GO:0098655, GO:0098655, GO:0086064, GO:0086012, GO:0086009, GO:0086004, GO:0071805, GO:0071383, GO:0071260, GO:0060048, GO:0055119, GO:0051966, GO:0051946, GO:0051481, GO:0046034, GO:0045988, GO:0045823, GO:0045822, GO:0040011, GO:0036376, GO:0036376, GO:0035725, GO:0035641, GO:0035094, GO:0034220, GO:0030007, GO:0030007, GO:0030007, GO:0021989, GO:0021764, GO:0019229, GO:0016311, GO:0010996, GO:0010881, GO:0010248, GO:0008542, GO:0008344, GO:0008217, GO:0006942, GO:0006940, GO:0006937, GO:0006883, GO:0006883, GO:0006814, GO:0006813, GO:0002087, GO:0002026, GO:0001662, GO:0001504, potassium ion import across plasma membrane, potassium ion import across plasma membrane, potassium ion import across plasma membrane, regulation of cardiac conduction, response to glycoside, response to glycoside, negative regulation of calcium:sodium antiporter activity, negative regulation of calcium ion transmembrane transport, proton transmembrane transport, transport across blood-brain barrier, cation transmembrane transport, cation transmembrane transport, cell communication by electrical coupling involved in cardiac conduction, membrane depolarization during cardiac muscle cell action potential, membrane repolarization, regulation of cardiac muscle cell contraction, potassium ion transmembrane transport, cellular response to steroid hormone stimulus, cellular response to mechanical stimulus, cardiac muscle contraction, relaxation of cardiac muscle, regulation of synaptic transmission, glutamatergic, regulation of glutamate uptake involved in transmission of nerve impulse, negative regulation of cytosolic calcium ion concentration, ATP metabolic process, negative regulation of striated muscle contraction, positive regulation of heart contraction, negative regulation of heart contraction, locomotion, sodium ion export across plasma membrane, sodium ion export across plasma membrane, sodium ion transmembrane transport, locomotory exploration behavior, response to nicotine, ion transmembrane transport, cellular potassium ion homeostasis, cellular potassium ion homeostasis, cellular potassium ion homeostasis, olfactory cortex development, amygdala development, regulation of vasoconstriction, dephosphorylation, response to auditory stimulus, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, establishment or maintenance of transmembrane electrochemical gradient, visual learning, adult locomotory behavior, regulation of blood pressure, regulation of striated muscle contraction, regulation of smooth muscle contraction, regulation of muscle contraction, cellular sodium ion homeostasis, cellular sodium ion homeostasis, sodium ion transport, potassium ion transport, regulation of respiratory gaseous exchange by nervous system process, regulation of the force of heart contraction, behavioral fear response, neurotransmitter uptake, 0 0 0 0 0 0 0 0 0 ENSG00000018699 chr2 32628032 32821051 + TTC27 protein_coding 55622 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 12 3 8 47 18 36 37 22 12 ENSG00000018869 chr19 56375846 56393545 - ZNF582 protein_coding The protein encoded by this gene is a zing finger protein and putative transcription factor that is highly methylated in cervical cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 147948 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 7 15 9 6 15 7 5 6 8 ENSG00000019102 chr11 124747472 124752238 - VSIG2 protein_coding 23584 GO:0016020, GO:0005887, membrane, integral component of plasma membrane, 1 3 4 9 0 0 5 2 6 ENSG00000019144 chr11 118606440 118658038 + PHLDB1 protein_coding 23187 GO:0045180, GO:0045180, basal cortex, basal cortex, GO:1904261, GO:1904261, GO:0070507, GO:0070507, GO:0010717, GO:0010470, positive regulation of basement membrane assembly involved in embryonic body morphogenesis, positive regulation of basement membrane assembly involved in embryonic body morphogenesis, regulation of microtubule cytoskeleton organization, regulation of microtubule cytoskeleton organization, regulation of epithelial to mesenchymal transition, regulation of gastrulation, 6 4 2 29 10 23 23 1 10 ENSG00000019169 chr2 118942166 118994660 + MARCO protein_coding The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]. 8685 GO:0030666, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005622, GO:0005581, endocytic vesicle membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, intracellular anatomical structure, collagen trimer, GO:0038187, GO:0038024, GO:0005044, GO:0004888, GO:0001664, GO:0001664, GO:0001664, GO:0001540, pattern recognition receptor activity, cargo receptor activity, scavenger receptor activity, transmembrane signaling receptor activity, G protein-coupled receptor binding, G protein-coupled receptor binding, G protein-coupled receptor binding, amyloid-beta binding, GO:0097242, GO:0070374, GO:0045087, GO:0043277, GO:0007193, GO:0007166, GO:0006911, GO:0006898, GO:0006898, GO:0006897, GO:0001934, amyloid-beta clearance, positive regulation of ERK1 and ERK2 cascade, innate immune response, apoptotic cell clearance, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, phagocytosis, engulfment, receptor-mediated endocytosis, receptor-mediated endocytosis, endocytosis, positive regulation of protein phosphorylation, 1 1 6 1 0 1 2 2 11 ENSG00000019186 chr20 54153449 54173973 - CYP24A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1591 GO:0005886, GO:0005741, GO:0005739, GO:0005654, plasma membrane, mitochondrial outer membrane, mitochondrion, nucleoplasm, GO:0070643, GO:0070643, GO:0062181, GO:0062180, GO:0030342, GO:0030342, GO:0030342, GO:0020037, GO:0016491, GO:0008403, GO:0008403, GO:0005506, vitamin D 25-hydroxylase activity, vitamin D 25-hydroxylase activity, 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity, 25-hydroxycholecalciferol-23-hydroxylase activity, 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity, 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity, 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity, heme binding, oxidoreductase activity, 25-hydroxycholecalciferol-24-hydroxylase activity, 25-hydroxycholecalciferol-24-hydroxylase activity, iron ion binding, GO:0070561, GO:0055114, GO:0042369, GO:0042369, GO:0042369, GO:0042359, GO:0033280, GO:0033280, GO:0010430, GO:0006766, GO:0001649, vitamin D receptor signaling pathway, oxidation-reduction process, vitamin D catabolic process, vitamin D catabolic process, vitamin D catabolic process, vitamin D metabolic process, response to vitamin D, response to vitamin D, fatty acid omega-oxidation, vitamin metabolic process, osteoblast differentiation, 0 2 0 0 0 0 1 0 1 ENSG00000019485 chr11 45095806 45235110 + PRDM11 protein_coding 56981 GO:0005829, GO:0005634, GO:0005634, cytosol, nucleus, nucleus, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:2000271, GO:0051726, GO:0045893, GO:0045892, GO:0043408, GO:0030308, GO:0016571, GO:0010468, positive regulation of fibroblast apoptotic process, regulation of cell cycle, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of MAPK cascade, negative regulation of cell growth, histone methylation, regulation of gene expression, 12 17 10 20 10 16 12 7 21 ENSG00000019505 chr11 45240301 45286319 - SYT13 protein_coding This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 57586 GO:0070382, GO:0045202, GO:0043231, GO:0030424, GO:0030133, GO:0005887, GO:0005886, exocytic vesicle, synapse, intracellular membrane-bounded organelle, axon, transport vesicle, integral component of plasma membrane, plasma membrane, GO:0030276, GO:0005544, GO:0005509, GO:0001786, GO:0000149, clathrin binding, calcium-dependent phospholipid binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:0071277, GO:0017158, GO:0017156, GO:0016192, GO:0014059, GO:0006906, cellular response to calcium ion, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, vesicle fusion, 0 0 0 0 0 0 0 0 0 ENSG00000019549 chr8 48917604 48921740 - SNAI2 protein_coding This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]. 6591 GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0070888, GO:0046872, GO:0043565, GO:0005515, GO:0003682, GO:0001227, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, metal ion binding, sequence-specific DNA binding, protein binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001240, GO:2000811, GO:2000810, GO:2000647, GO:1902230, GO:0090090, GO:0090090, GO:0071479, GO:0071364, GO:0070563, GO:0061314, GO:0060693, GO:0060536, GO:0060429, GO:0060021, GO:0050872, GO:0045667, GO:0045600, GO:0043518, GO:0043473, GO:0035921, GO:0035066, GO:0033629, GO:0032642, GO:0032331, GO:0030335, GO:0014032, GO:0010957, GO:0010839, GO:0007605, GO:0007219, GO:0006933, GO:0006355, GO:0003273, GO:0003198, GO:0003198, GO:0003180, GO:0001837, GO:0001649, GO:0000122, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of anoikis, regulation of bicellular tight junction assembly, negative regulation of stem cell proliferation, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, cellular response to ionizing radiation, cellular response to epidermal growth factor stimulus, negative regulation of vitamin D receptor signaling pathway, Notch signaling involved in heart development, regulation of branching involved in salivary gland morphogenesis, cartilage morphogenesis, epithelium development, roof of mouth development, white fat cell differentiation, regulation of osteoblast differentiation, positive regulation of fat cell differentiation, negative regulation of DNA damage response, signal transduction by p53 class mediator, pigmentation, desmosome disassembly, positive regulation of histone acetylation, negative regulation of cell adhesion mediated by integrin, regulation of chemokine production, negative regulation of chondrocyte differentiation, positive regulation of cell migration, neural crest cell development, negative regulation of vitamin D biosynthetic process, negative regulation of keratinocyte proliferation, sensory perception of sound, Notch signaling pathway, negative regulation of cell adhesion involved in substrate-bound cell migration, regulation of transcription, DNA-templated, cell migration involved in endocardial cushion formation, epithelial to mesenchymal transition involved in endocardial cushion formation, epithelial to mesenchymal transition involved in endocardial cushion formation, aortic valve morphogenesis, epithelial to mesenchymal transition, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000019582 chr5 150401637 150412929 - CD74 protein_coding The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 972 GO:0071556, GO:0070062, GO:0043202, GO:0042613, GO:0042613, GO:0035693, GO:0035692, GO:0032991, GO:0032588, GO:0030669, GO:0030666, GO:0030658, GO:0016021, GO:0016020, GO:0012507, GO:0009986, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005773, GO:0005771, GO:0005765, GO:0005737, GO:0005737, GO:0005634, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, lysosomal lumen, MHC class II protein complex, MHC class II protein complex, NOS2-CD74 complex, macrophage migration inhibitory factor receptor complex, protein-containing complex, trans-Golgi network membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, integral component of membrane, membrane, ER to Golgi transport vesicle membrane, cell surface, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, vacuole, multivesicular body, lysosomal membrane, cytoplasm, cytoplasm, nucleus, Golgi membrane, GO:0050998, GO:0044183, GO:0042802, GO:0042658, GO:0042609, GO:0042289, GO:0042289, GO:0042289, GO:0035718, GO:0035718, GO:0023026, GO:0019955, GO:0005515, GO:0004896, GO:0004896, GO:0001540, nitric-oxide synthase binding, protein folding chaperone, identical protein binding, MHC class II protein binding, via antigen binding groove, CD4 receptor binding, MHC class II protein binding, MHC class II protein binding, MHC class II protein binding, macrophage migration inhibitory factor binding, macrophage migration inhibitory factor binding, MHC class II protein complex binding, cytokine binding, protein binding, cytokine receptor activity, cytokine receptor activity, amyloid-beta binding, GO:2000448, GO:2000343, GO:1902166, GO:1902166, GO:0090023, GO:0070374, GO:0070374, GO:0070374, GO:0070206, GO:0065003, GO:0060907, GO:0060907, GO:0051085, GO:0050900, GO:0050731, GO:0050731, GO:0048146, GO:0046598, GO:0045893, GO:0045657, GO:0045582, GO:0045581, GO:0045060, GO:0045059, GO:0045058, GO:0043518, GO:0043518, GO:0043410, GO:0043123, GO:0043066, GO:0043030, GO:0035691, GO:0033674, GO:0033674, GO:0032757, GO:0032755, GO:0032722, GO:0031394, GO:0030890, GO:0030336, GO:0019886, GO:0019883, GO:0019882, GO:0016064, GO:0010628, GO:0008283, GO:0006952, GO:0006886, GO:0002906, GO:0002830, GO:0002792, GO:0002606, GO:0002286, GO:0001961, GO:0001961, GO:0001934, GO:0001516, GO:0000187, positive regulation of macrophage migration inhibitory factor signaling pathway, positive regulation of chemokine (C-X-C motif) ligand 2 production, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of neutrophil chemotaxis, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, protein trimerization, protein-containing complex assembly, positive regulation of macrophage cytokine production, positive regulation of macrophage cytokine production, chaperone cofactor-dependent protein refolding, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of fibroblast proliferation, positive regulation of viral entry into host cell, positive regulation of transcription, DNA-templated, positive regulation of monocyte differentiation, positive regulation of T cell differentiation, negative regulation of T cell differentiation, negative thymic T cell selection, positive thymic T cell selection, T cell selection, negative regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, regulation of macrophage activation, macrophage migration inhibitory factor signaling pathway, positive regulation of kinase activity, positive regulation of kinase activity, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of chemokine production, positive regulation of prostaglandin biosynthetic process, positive regulation of B cell proliferation, negative regulation of cell migration, antigen processing and presentation of exogenous peptide antigen via MHC class II, antigen processing and presentation of endogenous antigen, antigen processing and presentation, immunoglobulin mediated immune response, positive regulation of gene expression, cell population proliferation, defense response, intracellular protein transport, negative regulation of mature B cell apoptotic process, positive regulation of type 2 immune response, negative regulation of peptide secretion, positive regulation of dendritic cell antigen processing and presentation, T cell activation involved in immune response, positive regulation of cytokine-mediated signaling pathway, positive regulation of cytokine-mediated signaling pathway, positive regulation of protein phosphorylation, prostaglandin biosynthetic process, activation of MAPK activity, 3281 4303 6272 3943 5682 7557 4246 4889 6829 ENSG00000019991 chr7 81699008 81770438 - HGF protein_coding This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]. 3082 GO:0031093, GO:0016020, GO:0005615, GO:0005576, platelet alpha granule lumen, membrane, extracellular space, extracellular region, GO:0044877, GO:0042802, GO:0042056, GO:0008083, GO:0005515, GO:0004252, GO:0004252, protein-containing complex binding, identical protein binding, chemoattractant activity, growth factor activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:2000573, GO:1902947, GO:1902042, GO:1901299, GO:1900744, GO:0090201, GO:0070572, GO:0060665, GO:0060326, GO:0051897, GO:0051450, GO:0050918, GO:0050731, GO:0050728, GO:0050673, GO:0048012, GO:0048012, GO:0045944, GO:0045766, GO:0045669, GO:0043154, GO:0043066, GO:0035729, GO:0035729, GO:0033137, GO:0032733, GO:0032715, GO:0031643, GO:0031100, GO:0030335, GO:0030335, GO:0030212, GO:0019221, GO:0014068, GO:0010507, GO:0006508, GO:0002576, GO:0001934, GO:0001889, GO:0001837, GO:0000902, GO:0000278, GO:0000187, GO:0000165, positive regulation of DNA biosynthetic process, regulation of tau-protein kinase activity, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of hydrogen peroxide-mediated programmed cell death, regulation of p38MAPK cascade, negative regulation of release of cytochrome c from mitochondria, positive regulation of neuron projection regeneration, regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling, cell chemotaxis, positive regulation of protein kinase B signaling, myoblast proliferation, positive chemotaxis, positive regulation of peptidyl-tyrosine phosphorylation, negative regulation of inflammatory response, epithelial cell proliferation, hepatocyte growth factor receptor signaling pathway, hepatocyte growth factor receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of osteoblast differentiation, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, cellular response to hepatocyte growth factor stimulus, cellular response to hepatocyte growth factor stimulus, negative regulation of peptidyl-serine phosphorylation, positive regulation of interleukin-10 production, negative regulation of interleukin-6 production, positive regulation of myelination, animal organ regeneration, positive regulation of cell migration, positive regulation of cell migration, hyaluronan metabolic process, cytokine-mediated signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of autophagy, proteolysis, platelet degranulation, positive regulation of protein phosphorylation, liver development, epithelial to mesenchymal transition, cell morphogenesis, mitotic cell cycle, activation of MAPK activity, MAPK cascade, 11 13 12 9 23 13 18 11 1 ENSG00000019995 chr10 124942123 124988189 + ZRANB1 protein_coding 54764 GO:0043231, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0070530, GO:0070530, GO:0046872, GO:0008234, GO:0005515, GO:0004843, GO:0004843, GO:0004843, K63-linked polyubiquitin modification-dependent protein binding, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1990168, GO:1990168, GO:0071947, GO:0071947, GO:0070536, GO:0070536, GO:0035523, GO:0035523, GO:0030177, GO:0030177, GO:0022604, GO:0016579, GO:0016477, GO:0016477, GO:0016055, GO:0007010, GO:0007010, protein K33-linked deubiquitination, protein K33-linked deubiquitination, protein deubiquitination involved in ubiquitin-dependent protein catabolic process, protein deubiquitination involved in ubiquitin-dependent protein catabolic process, protein K63-linked deubiquitination, protein K63-linked deubiquitination, protein K29-linked deubiquitination, protein K29-linked deubiquitination, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, regulation of cell morphogenesis, protein deubiquitination, cell migration, cell migration, Wnt signaling pathway, cytoskeleton organization, cytoskeleton organization, 1161 1175 1567 971 1173 1370 955 808 884 ENSG00000020129 chr1 35557473 35567274 + NCDN protein_coding This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]. 23154 GO:0098794, GO:0043204, GO:0043025, GO:0030425, GO:0030425, GO:0030424, GO:0016020, GO:0016020, GO:0010008, GO:0005829, GO:0005829, GO:0005634, postsynapse, perikaryon, neuronal cell body, dendrite, dendrite, axon, membrane, membrane, endosome membrane, cytosol, cytosol, nucleus, GO:0005515, protein binding, GO:0048168, GO:0045453, GO:0031175, GO:0031175, regulation of neuronal synaptic plasticity, bone resorption, neuron projection development, neuron projection development, 12 33 37 22 10 52 42 10 40 ENSG00000020181 chr8 37784191 37844896 + ADGRA2 protein_coding 25960 GO:1990909, GO:1990909, GO:0030175, GO:0016021, GO:0009986, GO:0005886, GO:0005886, Wnt signalosome, Wnt signalosome, filopodium, integral component of membrane, cell surface, plasma membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:1900747, GO:0090263, GO:0090263, GO:0090210, GO:0050920, GO:0045765, GO:0043542, GO:0016055, GO:0010595, GO:0007417, GO:0007417, GO:0007186, GO:0007166, GO:0002040, GO:0002040, negative regulation of vascular endothelial growth factor signaling pathway, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, regulation of establishment of blood-brain barrier, regulation of chemotaxis, regulation of angiogenesis, endothelial cell migration, Wnt signaling pathway, positive regulation of endothelial cell migration, central nervous system development, central nervous system development, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, sprouting angiogenesis, sprouting angiogenesis, 25 18 32 51 96 80 63 62 50 ENSG00000020219 chr7 152445477 152447150 + CCT8L1P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000020256 chr20 52051663 52204308 - ZFP64 protein_coding 55734 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0045944, GO:0010468, positive regulation of transcription by RNA polymerase II, regulation of gene expression, 1 4 10 8 3 16 15 4 16 ENSG00000020426 chr14 60734742 60969953 + MNAT1 protein_coding The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 4331 GO:0070985, GO:0070516, GO:0019907, GO:0005829, GO:0005675, GO:0005675, GO:0005654, GO:0005654, GO:0000439, transcription factor TFIIK complex, CAK-ERCC2 complex, cyclin-dependent protein kinase activating kinase holoenzyme complex, cytosol, transcription factor TFIIH holo complex, transcription factor TFIIH holo complex, nucleoplasm, nucleoplasm, transcription factor TFIIH core complex, GO:0061575, GO:0047485, GO:0008270, GO:0005515, cyclin-dependent protein serine/threonine kinase activator activity, protein N-terminus binding, zinc ion binding, protein binding, GO:1905775, GO:0065003, GO:0051592, GO:0048661, GO:0045737, GO:0043066, GO:0021591, GO:0007512, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006357, GO:0006357, GO:0006294, GO:0006283, GO:0006281, GO:0000086, GO:0000082, GO:0000079, negative regulation of DNA helicase activity, protein-containing complex assembly, response to calcium ion, positive regulation of smooth muscle cell proliferation, positive regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of apoptotic process, ventricular system development, adult heart development, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, nucleotide-excision repair, preincision complex assembly, transcription-coupled nucleotide-excision repair, DNA repair, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 5 2 14 36 5 33 9 4 12 ENSG00000020577 chr14 54567097 54793315 + SAMD4A protein_coding Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]. 23034 GO:0045202, GO:0030425, GO:0030054, GO:0005829, GO:0001650, GO:0000932, synapse, dendrite, cell junction, cytosol, fibrillar center, P-body, GO:0030371, GO:0030371, GO:0005515, GO:0003729, GO:0003723, translation repressor activity, translation repressor activity, protein binding, mRNA binding, RNA binding, GO:0045727, GO:0043488, GO:0017148, GO:0000289, positive regulation of translation, regulation of mRNA stability, negative regulation of translation, nuclear-transcribed mRNA poly(A) tail shortening, 2 1 2 5 0 1 5 1 3 ENSG00000020633 chr1 24899511 24965121 - RUNX3 protein_coding This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 864 GO:0043231, GO:0016513, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, core-binding factor complex, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0005524, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, ATP binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071559, GO:0050680, GO:0048935, GO:0045893, GO:0045786, GO:0045595, GO:0043378, GO:0043371, GO:0030182, GO:0030097, GO:0006468, GO:0006357, GO:0006355, GO:0002062, GO:0001503, GO:0000122, response to transforming growth factor beta, negative regulation of epithelial cell proliferation, peripheral nervous system neuron development, positive regulation of transcription, DNA-templated, negative regulation of cell cycle, regulation of cell differentiation, positive regulation of CD8-positive, alpha-beta T cell differentiation, negative regulation of CD4-positive, alpha-beta T cell differentiation, neuron differentiation, hemopoiesis, protein phosphorylation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chondrocyte differentiation, ossification, negative regulation of transcription by RNA polymerase II, 733 342 1355 702 263 1086 832 263 795 ENSG00000020922 chr11 94415578 94493908 - MRE11 protein_coding This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 4361 GO:0035861, GO:0035861, GO:0030870, GO:0030870, GO:0030870, GO:0030870, GO:0016605, GO:0016605, GO:0005829, GO:0005737, GO:0005657, GO:0005654, GO:0005654, GO:0005634, GO:0000781, GO:0000781, GO:0000781, GO:0000781, GO:0000781, site of double-strand break, site of double-strand break, Mre11 complex, Mre11 complex, Mre11 complex, Mre11 complex, PML body, PML body, cytosol, cytoplasm, replication fork, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, GO:0045296, GO:0042802, GO:0030145, GO:0008409, GO:0008408, GO:0008022, GO:0005515, GO:0004520, GO:0004520, GO:0004518, GO:0003690, GO:0003678, GO:0003677, GO:0000014, GO:0000014, cadherin binding, identical protein binding, manganese ion binding, 5'-3' exonuclease activity, 3'-5' exonuclease activity, protein C-terminus binding, protein binding, endodeoxyribonuclease activity, endodeoxyribonuclease activity, nuclease activity, double-stranded DNA binding, DNA helicase activity, DNA binding, single-stranded DNA endodeoxyribonuclease activity, single-stranded DNA endodeoxyribonuclease activity, GO:1901796, GO:0110025, GO:0097552, GO:0043066, GO:0042138, GO:0033674, GO:0032508, GO:0032481, GO:0032206, GO:0031954, GO:0031860, GO:0031573, GO:0016032, GO:0008283, GO:0007131, GO:0007129, GO:0007095, GO:0007062, GO:0007004, GO:0006974, GO:0006310, GO:0006303, GO:0006303, GO:0006303, GO:0006302, GO:0006281, GO:0006260, GO:0000729, GO:0000724, GO:0000724, GO:0000724, GO:0000723, GO:0000019, regulation of signal transduction by p53 class mediator, DNA strand resection involved in replication fork processing, mitochondrial double-strand break repair via homologous recombination, negative regulation of apoptotic process, meiotic DNA double-strand break formation, positive regulation of kinase activity, DNA duplex unwinding, positive regulation of type I interferon production, positive regulation of telomere maintenance, positive regulation of protein autophosphorylation, telomeric 3' overhang formation, intra-S DNA damage checkpoint, viral process, cell population proliferation, reciprocal meiotic recombination, homologous chromosome pairing at meiosis, mitotic G2 DNA damage checkpoint, sister chromatid cohesion, telomere maintenance via telomerase, cellular response to DNA damage stimulus, DNA recombination, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair, DNA repair, DNA replication, DNA double-strand break processing, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance, regulation of mitotic recombination, 373 336 302 398 400 319 457 259 279 ENSG00000021300 chr11 73646178 73662819 + PLEKHB1 protein_coding 58473 GO:0016021, GO:0016021, GO:0005737, integral component of membrane, integral component of membrane, cytoplasm, GO:0005515, protein binding, GO:0045595, GO:0007602, GO:0007275, regulation of cell differentiation, phototransduction, multicellular organism development, 14 6 28 73 13 59 40 21 22 ENSG00000021355 chr6 2832332 2842006 - SERPINB1 protein_coding The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 1992 GO:0070062, GO:0062023, GO:0036464, GO:0034774, GO:0016020, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, cytoplasmic ribonucleoprotein granule, secretory granule lumen, membrane, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0030414, GO:0005515, GO:0004867, GO:0004867, peptidase inhibitor activity, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0044342, GO:0043312, GO:0032691, GO:0010951, GO:0010951, type B pancreatic cell proliferation, neutrophil degranulation, negative regulation of interleukin-1 beta production, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, 3032 2224 4519 1005 1836 1976 1354 1537 1668 ENSG00000021461 chr7 99828013 99866102 + CYP3A43 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 64816 GO:0005789, endoplasmic reticulum membrane, GO:0101020, GO:0070330, GO:0050649, GO:0020037, GO:0008395, GO:0005506, GO:0004497, GO:0004497, estrogen 16-alpha-hydroxylase activity, aromatase activity, testosterone 6-beta-hydroxylase activity, heme binding, steroid hydroxylase activity, iron ion binding, monooxygenase activity, monooxygenase activity, GO:0070989, GO:0008202, oxidative demethylation, steroid metabolic process, 0 0 0 0 2 0 0 0 0 ENSG00000021488 chr19 32830509 32869766 - SLC7A9 protein_coding This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]. 11136 GO:0031526, GO:0016324, GO:0005887, GO:0005886, GO:0005886, brush border membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042605, GO:0015184, GO:0015184, GO:0015179, GO:0015175, GO:0015175, GO:0005515, peptide antigen binding, L-cystine transmembrane transporter activity, L-cystine transmembrane transporter activity, L-amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, protein binding, GO:1902475, GO:0065003, GO:0050900, GO:0015811, GO:0015811, GO:0015804, GO:0006865, GO:0003333, L-alpha-amino acid transmembrane transport, protein-containing complex assembly, leukocyte migration, L-cystine transport, L-cystine transport, neutral amino acid transport, amino acid transport, amino acid transmembrane transport, 2 2 1 2 3 3 0 1 0 ENSG00000021574 chr2 32063547 32157637 + SPAST protein_coding This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]. 6683 GO:1904115, GO:0070062, GO:0048471, GO:0031965, GO:0031410, GO:0030496, GO:0030496, GO:0030496, GO:0016021, GO:0015630, GO:0005874, GO:0005829, GO:0005819, GO:0005813, GO:0005811, GO:0005789, GO:0005783, GO:0005768, GO:0005737, GO:0005654, GO:0005634, GO:0005634, axon cytoplasm, extracellular exosome, perinuclear region of cytoplasm, nuclear membrane, cytoplasmic vesicle, midbody, midbody, midbody, integral component of membrane, microtubule cytoskeleton, microtubule, cytosol, spindle, centrosome, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum, endosome, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0048487, GO:0048487, GO:0044877, GO:0043014, GO:0016887, GO:0016853, GO:0008568, GO:0008568, GO:0008017, GO:0005524, GO:0005515, beta-tubulin binding, beta-tubulin binding, protein-containing complex binding, alpha-tubulin binding, ATPase activity, isomerase activity, microtubule-severing ATPase activity, microtubule-severing ATPase activity, microtubule binding, ATP binding, protein binding, GO:0090148, GO:0061640, GO:0051260, GO:0051228, GO:0051013, GO:0051013, GO:0051013, GO:0034214, GO:0032506, GO:0032467, GO:0031468, GO:0031122, GO:0031117, GO:0019896, GO:0010458, GO:0008152, GO:0008089, GO:0007409, GO:0006888, GO:0001578, GO:0000281, membrane fission, cytoskeleton-dependent cytokinesis, protein homooligomerization, mitotic spindle disassembly, microtubule severing, microtubule severing, microtubule severing, protein hexamerization, cytokinetic process, positive regulation of cytokinesis, nuclear envelope reassembly, cytoplasmic microtubule organization, positive regulation of microtubule depolymerization, axonal transport of mitochondrion, exit from mitosis, metabolic process, anterograde axonal transport, axonogenesis, endoplasmic reticulum to Golgi vesicle-mediated transport, microtubule bundle formation, mitotic cytokinesis, 873 915 843 410 652 510 444 515 479 ENSG00000021645 chr14 78170373 79868290 + NRXN3 protein_coding This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]. 9369 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0097109, GO:0050839, GO:0046872, GO:0038023, neuroligin family protein binding, cell adhesion molecule binding, metal ion binding, signaling receptor activity, GO:0071625, GO:0035176, GO:0030534, GO:0007612, GO:0007411, GO:0007158, vocalization behavior, social behavior, adult behavior, learning, axon guidance, neuron cell-cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000021762 chr11 3087116 3166739 - OSBPL5 protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]. 114879 GO:0140268, GO:0043231, GO:0043231, GO:0016021, GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005789, endoplasmic reticulum-plasma membrane contact site, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, integral component of membrane, membrane, membrane, cytosol, cytosol, cytosol, endoplasmic reticulum membrane, GO:0140343, GO:0070273, GO:0032934, GO:0015485, GO:0015248, GO:0008142, GO:0005548, GO:0001786, phosphatidylserine transfer activity, phosphatidylinositol-4-phosphate binding, sterol binding, cholesterol binding, sterol transporter activity, oxysterol binding, phospholipid transporter activity, phosphatidylserine binding, GO:0120009, GO:0036150, GO:0030301, GO:0015914, GO:0008203, GO:0006893, intermembrane lipid transfer, phosphatidylserine acyl-chain remodeling, cholesterol transport, phospholipid transport, cholesterol metabolic process, Golgi to plasma membrane transport, 26 59 44 29 67 53 71 41 37 ENSG00000021776 chr15 34851782 34969839 - AQR protein_coding 9716 GO:0071013, GO:0071013, GO:0071007, GO:0016020, GO:0005654, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, membrane, nucleoplasm, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0003729, GO:0003724, GO:0003723, GO:0003723, ATP binding, protein binding, mRNA binding, RNA helicase activity, RNA binding, RNA binding, GO:0006283, GO:0000398, GO:0000398, GO:0000398, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 313 382 428 327 392 285 311 309 390 ENSG00000021826 chr2 210477682 210679107 + CPS1 protein_coding The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]. 1373 GO:0042645, GO:0032991, GO:0005759, GO:0005743, GO:0005737, GO:0005730, mitochondrial nucleoid, protein-containing complex, mitochondrial matrix, mitochondrial inner membrane, cytoplasm, nucleolus, GO:0072341, GO:0044877, GO:0016595, GO:0005543, GO:0005524, GO:0005515, GO:0005509, GO:0004175, GO:0004088, GO:0004087, GO:0004087, modified amino acid binding, protein-containing complex binding, glutamate binding, phospholipid binding, ATP binding, protein binding, calcium ion binding, endopeptidase activity, carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity, carbamoyl-phosphate synthase (ammonia) activity, carbamoyl-phosphate synthase (ammonia) activity, GO:0071548, GO:0071400, GO:0071377, GO:0071320, GO:0071242, GO:0070409, GO:0070365, GO:0060416, GO:0055081, GO:0050667, GO:0046209, GO:0044344, GO:0043200, GO:0042594, GO:0042493, GO:0042311, GO:0032496, GO:0032094, GO:0019433, GO:0019240, GO:0014075, GO:0010043, GO:0009636, GO:0007494, GO:0006807, GO:0006541, GO:0006508, GO:0006207, GO:0000050, GO:0000050, response to dexamethasone, cellular response to oleic acid, cellular response to glucagon stimulus, cellular response to cAMP, cellular response to ammonium ion, carbamoyl phosphate biosynthetic process, hepatocyte differentiation, response to growth hormone, anion homeostasis, homocysteine metabolic process, nitric oxide metabolic process, cellular response to fibroblast growth factor stimulus, response to amino acid, response to starvation, response to drug, vasodilation, response to lipopolysaccharide, response to food, triglyceride catabolic process, citrulline biosynthetic process, response to amine, response to zinc ion, response to toxic substance, midgut development, nitrogen compound metabolic process, glutamine metabolic process, proteolysis, 'de novo' pyrimidine nucleobase biosynthetic process, urea cycle, urea cycle, 1 0 1 0 0 0 1 0 6 ENSG00000021852 chr1 56929210 56966140 - C8B protein_coding This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 732 GO:1903561, GO:0070062, GO:0016020, GO:0005579, GO:0005576, extracellular vesicle, extracellular exosome, membrane, membrane attack complex, extracellular region, GO:0044877, protein-containing complex binding, GO:0030449, GO:0019835, GO:0006958, GO:0006957, GO:0006956, GO:0006955, regulation of complement activation, cytolysis, complement activation, classical pathway, complement activation, alternative pathway, complement activation, immune response, 1 0 0 0 0 0 0 0 0 ENSG00000022267 chrX 136146702 136211359 + FHL1 protein_coding This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]. 2273 GO:0005925, GO:0005886, GO:0005829, GO:0005737, GO:0005634, focal adhesion, plasma membrane, cytosol, cytoplasm, nucleus, GO:0046872, GO:0044325, GO:0044325, GO:0005515, GO:0003674, metal ion binding, ion channel binding, ion channel binding, protein binding, molecular_function, GO:2000134, GO:1901016, GO:0043268, GO:0030308, GO:0030154, GO:0010972, GO:0009887, GO:0007517, GO:0003254, negative regulation of G1/S transition of mitotic cell cycle, regulation of potassium ion transmembrane transporter activity, positive regulation of potassium ion transport, negative regulation of cell growth, cell differentiation, negative regulation of G2/M transition of mitotic cell cycle, animal organ morphogenesis, muscle organ development, regulation of membrane depolarization, 7 5 26 26 9 38 25 22 20 ENSG00000022277 chr20 56468585 56519449 + RTF2 protein_coding 51507 GO:0005657, GO:0005634, replication fork, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:1902979, GO:0097752, GO:0072711, GO:0071171, mitotic DNA replication termination, regulation of DNA stability, cellular response to hydroxyurea, site-specific DNA replication termination at RTS1 barrier, 3097 2569 3208 1080 1541 1369 1253 1322 1288 ENSG00000022355 chr5 161847063 161899981 + GABRA1 protein_coding This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 2554 GO:1902711, GO:1902711, GO:1902710, GO:0099060, GO:0098982, GO:0098794, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0030659, GO:0005887, GO:0005887, GO:0005886, GABA-A receptor complex, GABA-A receptor complex, GABA receptor complex, integral component of postsynaptic specialization membrane, GABA-ergic synapse, postsynapse, synapse, neuron projection, chloride channel complex, dendrite membrane, cytoplasmic vesicle membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0030594, GO:0022851, GO:0022851, GO:0022851, GO:0016917, GO:0008503, GO:0008144, GO:0005254, GO:0005237, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, GABA-gated chloride ion channel activity, GABA-gated chloride ion channel activity, GABA receptor activity, benzodiazepine receptor activity, drug binding, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:1904862, GO:1902476, GO:1902476, GO:0071420, GO:0060078, GO:0051932, GO:0051932, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007214, GO:0007165, inhibitory synapse assembly, chloride transmembrane transport, chloride transmembrane transport, cellular response to histamine, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, synaptic transmission, GABAergic, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000022556 chr19 54953130 55001142 + NLRP2 protein_coding This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 55655 GO:0043231, GO:0005829, GO:0005794, GO:0005737, GO:0000781, intracellular membrane-bounded organelle, cytosol, Golgi apparatus, cytoplasm, chromosome, telomeric region, GO:0032090, GO:0005524, GO:0005515, Pyrin domain binding, ATP binding, protein binding, GO:0045087, GO:0043280, GO:0032731, GO:0032088, GO:0006954, GO:0006915, innate immune response, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of interleukin-1 beta production, negative regulation of NF-kappaB transcription factor activity, inflammatory response, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000022567 chr8 141207166 141308305 - SLC45A4 protein_coding 57210 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0008506, GO:0008506, sucrose:proton symporter activity, sucrose:proton symporter activity, GO:0015770, sucrose transport, 5597 5261 6589 2873 4416 3398 3364 3247 2979 ENSG00000022840 chr12 120533480 120577594 + RNF10 protein_coding The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq, Jul 2008]. 9921 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0061630, GO:0046872, GO:0005515, GO:0000976, GO:0000976, ubiquitin protein ligase activity, metal ion binding, protein binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0051865, GO:0045944, GO:0045944, GO:0045893, GO:0031643, GO:0031643, GO:0010626, protein autoubiquitination, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of myelination, positive regulation of myelination, negative regulation of Schwann cell proliferation, 2998 2710 3226 1815 2301 2255 2246 1923 1723 ENSG00000022976 chr14 102317377 102342702 + ZNF839 protein_coding 55778 GO:0046872, metal ion binding, 246 291 283 294 401 356 294 298 312 ENSG00000023041 chr10 112424428 112446917 - ZDHHC6 protein_coding 64429 GO:0016021, GO:0005794, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0019706, GO:0016747, GO:0016409, GO:0005515, protein-cysteine S-palmitoyltransferase activity, transferase activity, transferring acyl groups other than amino-acyl groups, palmitoyltransferase activity, protein binding, GO:0043543, GO:0018345, GO:0018230, GO:0010636, GO:0006612, protein acylation, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, positive regulation of mitochondrial fusion, protein targeting to membrane, 338 285 352 231 258 251 160 217 237 ENSG00000023171 chr11 123358428 123627774 + GRAMD1B protein_coding 57476 GO:0140268, GO:0016021, GO:0016020, GO:0005886, GO:0005789, endoplasmic reticulum-plasma membrane contact site, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, GO:0120020, GO:0070300, GO:0015485, GO:0001786, cholesterol transfer activity, phosphatidic acid binding, cholesterol binding, phosphatidylserine binding, GO:0120009, GO:0071397, GO:0042632, GO:0015918, intermembrane lipid transfer, cellular response to cholesterol, cholesterol homeostasis, sterol transport, 75 75 119 59 65 105 57 61 91 ENSG00000023191 chr11 494512 507300 - RNH1 protein_coding Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]. 6050 GO:0070062, GO:0032311, GO:0005829, GO:0005654, extracellular exosome, angiogenin-PRI complex, cytosol, nucleoplasm, GO:0008428, GO:0005515, ribonuclease inhibitor activity, protein binding, GO:0045765, GO:0043086, GO:0006402, regulation of angiogenesis, negative regulation of catalytic activity, mRNA catabolic process, 2 2 2 30 3 63 1 5 13 ENSG00000023228 chr2 206114817 206159603 - NDUFS1 protein_coding The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 4719 GO:0005759, GO:0005758, GO:0005747, GO:0005747, GO:0005747, GO:0005739, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrion, GO:0051539, GO:0051537, GO:0046872, GO:0009055, GO:0008137, GO:0008137, GO:0005515, 4 iron, 4 sulfur cluster binding, 2 iron, 2 sulfur cluster binding, metal ion binding, electron transfer activity, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0072593, GO:0051881, GO:0046034, GO:0045333, GO:0032981, GO:0008637, GO:0006120, GO:0006120, reactive oxygen species metabolic process, regulation of mitochondrial membrane potential, ATP metabolic process, cellular respiration, mitochondrial respiratory chain complex I assembly, apoptotic mitochondrial changes, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 308 340 338 217 275 334 234 211 215 ENSG00000023287 chr8 52622456 52745843 - RB1CC1 protein_coding The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]. 9821 GO:1990316, GO:1990316, GO:0034045, GO:0034045, GO:0031965, GO:0019898, GO:0005829, GO:0005829, GO:0005789, GO:0005764, GO:0000407, Atg1/ULK1 kinase complex, Atg1/ULK1 kinase complex, phagophore assembly site membrane, phagophore assembly site membrane, nuclear membrane, extrinsic component of membrane, cytosol, cytosol, endoplasmic reticulum membrane, lysosome, phagophore assembly site, GO:0060090, GO:0019901, GO:0005515, molecular adaptor activity, protein kinase binding, protein binding, GO:2001237, GO:0061723, GO:0061709, GO:0046330, GO:0045793, GO:0034727, GO:0030242, GO:0016241, GO:0016236, GO:0007507, GO:0007049, GO:0006914, GO:0001934, GO:0001889, GO:0000422, GO:0000045, negative regulation of extrinsic apoptotic signaling pathway, glycophagy, reticulophagy, positive regulation of JNK cascade, positive regulation of cell size, piecemeal microautophagy of the nucleus, autophagy of peroxisome, regulation of macroautophagy, macroautophagy, heart development, cell cycle, autophagy, positive regulation of protein phosphorylation, liver development, autophagy of mitochondrion, autophagosome assembly, 2720 2603 3527 1181 1996 1760 1594 1498 1725 ENSG00000023318 chr9 99979179 100099040 - ERP44 protein_coding This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]. 23071 GO:0070062, GO:0035580, GO:0009986, GO:0005793, GO:0005789, GO:0005788, GO:0005576, extracellular exosome, specific granule lumen, cell surface, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum lumen, extracellular region, GO:0005515, GO:0003756, protein binding, protein disulfide isomerase activity, GO:0045454, GO:0043312, GO:0034976, GO:0009100, GO:0006986, GO:0006457, cell redox homeostasis, neutrophil degranulation, response to endoplasmic reticulum stress, glycoprotein metabolic process, response to unfolded protein, protein folding, 999 951 1268 347 654 524 442 625 449 ENSG00000023330 chr3 52198086 52214327 + ALAS1 protein_coding This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]. 211 GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005654, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, GO:0042802, GO:0030170, GO:0005515, GO:0003870, identical protein binding, pyridoxal phosphate binding, protein binding, 5-aminolevulinate synthase activity, GO:0048821, GO:0042541, GO:0019216, GO:0007005, GO:0006783, GO:0006783, GO:0006782, GO:0001666, erythrocyte development, hemoglobin biosynthetic process, regulation of lipid metabolic process, mitochondrion organization, heme biosynthetic process, heme biosynthetic process, protoporphyrinogen IX biosynthetic process, response to hypoxia, 266 219 866 100 198 226 139 175 187 ENSG00000023445 chr11 102317450 102339403 + BIRC3 protein_coding This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011]. 330 GO:0045121, GO:0032991, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, membrane raft, protein-containing complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0061630, GO:0046872, GO:0044877, GO:0043027, GO:0016740, GO:0005515, GO:0004842, GO:0004842, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein-containing complex binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, transferase activity, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2000116, GO:1990001, GO:0070424, GO:0060546, GO:0060544, GO:0060544, GO:0050727, GO:0045088, GO:0043154, GO:0043123, GO:0043066, GO:0042981, GO:0039535, GO:0038061, GO:0035666, GO:0034121, GO:0033209, GO:0031398, GO:0031398, GO:0016579, GO:0016567, GO:0010803, GO:0007283, GO:0007249, GO:0007166, GO:0006915, GO:0002756, regulation of cysteine-type endopeptidase activity, inhibition of cysteine-type endopeptidase activity involved in apoptotic process, regulation of nucleotide-binding oligomerization domain containing signaling pathway, negative regulation of necroptotic process, regulation of necroptotic process, regulation of necroptotic process, regulation of inflammatory response, regulation of innate immune response, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, regulation of apoptotic process, regulation of RIG-I signaling pathway, NIK/NF-kappaB signaling, TRIF-dependent toll-like receptor signaling pathway, regulation of toll-like receptor signaling pathway, tumor necrosis factor-mediated signaling pathway, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, protein deubiquitination, protein ubiquitination, regulation of tumor necrosis factor-mediated signaling pathway, spermatogenesis, I-kappaB kinase/NF-kappaB signaling, cell surface receptor signaling pathway, apoptotic process, MyD88-independent toll-like receptor signaling pathway, 1014 931 5032 1395 544 3030 2746 1033 3154 ENSG00000023516 chr13 42272153 42323267 + AKAP11 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]. 11215 GO:0005886, GO:0005829, GO:0005815, GO:0005777, GO:0005737, GO:0005730, plasma membrane, cytosol, microtubule organizing center, peroxisome, cytoplasm, nucleolus, GO:0051018, GO:0034237, GO:0019207, GO:0008157, GO:0005515, protein kinase A binding, protein kinase A regulatory subunit binding, kinase regulator activity, protein phosphatase 1 binding, protein binding, GO:0043549, GO:0036010, GO:0035556, GO:0008104, regulation of kinase activity, protein localization to endosome, intracellular signal transduction, protein localization, 242 316 280 315 243 334 319 205 237 ENSG00000023572 chr1 193090866 193106114 - GLRX2 protein_coding The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011]. 51022 GO:0043231, GO:0043025, GO:0030425, GO:0005759, GO:0005739, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, neuronal cell body, dendrite, mitochondrial matrix, mitochondrion, nucleoplasm, nucleus, GO:0051537, GO:0046872, GO:0015038, GO:0015035, GO:0009055, GO:0008794, GO:0005515, GO:0003756, 2 iron, 2 sulfur cluster binding, metal ion binding, glutathione disulfide oxidoreductase activity, protein disulfide oxidoreductase activity, electron transfer activity, arsenate reductase (glutaredoxin) activity, protein binding, protein disulfide isomerase activity, GO:0071451, GO:0051775, GO:0045454, GO:0042542, GO:0042262, GO:0030154, GO:0022900, GO:0010033, GO:0009966, GO:0009266, GO:0007568, GO:0006915, GO:0006749, GO:0006355, cellular response to superoxide, response to redox state, cell redox homeostasis, response to hydrogen peroxide, DNA protection, cell differentiation, electron transport chain, response to organic substance, regulation of signal transduction, response to temperature stimulus, aging, apoptotic process, glutathione metabolic process, regulation of transcription, DNA-templated, 88 118 142 68 144 93 65 75 62 ENSG00000023608 chr14 61762357 61796428 + SNAPC1 protein_coding 6617 GO:0019185, GO:0005730, GO:0005654, GO:0005654, snRNA-activating protein complex, nucleolus, nucleoplasm, nucleoplasm, GO:0043565, GO:0016251, GO:0005515, GO:0000995, sequence-specific DNA binding, RNA polymerase II general transcription initiation factor activity, protein binding, RNA polymerase III general transcription initiation factor activity, GO:0042796, GO:0042795, GO:0042795, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, 100 122 93 123 176 169 123 121 131 ENSG00000023697 chr12 15911172 16037282 + DERA protein_coding 51071 GO:1904813, GO:0034774, GO:0005829, GO:0005654, GO:0005576, ficolin-1-rich granule lumen, secretory granule lumen, cytosol, nucleoplasm, extracellular region, GO:0005515, GO:0004139, GO:0004139, GO:0004139, protein binding, deoxyribose-phosphate aldolase activity, deoxyribose-phosphate aldolase activity, deoxyribose-phosphate aldolase activity, GO:0046386, GO:0046121, GO:0043312, GO:0016052, GO:0009264, GO:0006098, deoxyribose phosphate catabolic process, deoxyribonucleoside catabolic process, neutrophil degranulation, carbohydrate catabolic process, deoxyribonucleotide catabolic process, pentose-phosphate shunt, 69 63 62 56 37 115 23 52 53 ENSG00000023734 chr12 15882391 15903478 + STRAP protein_coding 11171 GO:0034719, GO:0032797, GO:0032797, GO:0005829, GO:0005829, GO:0005737, GO:0005634, SMN-Sm protein complex, SMN complex, SMN complex, cytosol, cytosol, cytoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0060394, GO:0050680, GO:0030512, GO:0030512, GO:0030277, GO:0010719, GO:0010633, GO:0000387, GO:0000387, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of epithelial cell proliferation, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, maintenance of gastrointestinal epithelium, negative regulation of epithelial to mesenchymal transition, negative regulation of epithelial cell migration, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 1242 1183 1427 691 787 778 581 577 519 ENSG00000023839 chr10 99782640 99852594 + ABCC2 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]. 1244 GO:0046581, GO:0031526, GO:0016324, GO:0016324, GO:0016020, GO:0009986, GO:0009986, GO:0005887, GO:0005886, intercellular canaliculus, brush border membrane, apical plasma membrane, apical plasma membrane, membrane, cell surface, cell surface, integral component of plasma membrane, plasma membrane, GO:0042910, GO:0042626, GO:0042626, GO:0019904, GO:0016887, GO:0015127, GO:0008559, GO:0008514, GO:0005524, GO:0005515, xenobiotic transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, protein domain specific binding, ATPase activity, bilirubin transmembrane transporter activity, ATPase-coupled xenobiotic transmembrane transporter activity, organic anion transmembrane transporter activity, ATP binding, protein binding, GO:1990962, GO:1990961, GO:1904486, GO:1901086, GO:0150104, GO:0120188, GO:0097327, GO:0071716, GO:0071549, GO:0071356, GO:0071354, GO:0071347, GO:0071222, GO:0070633, GO:0070327, GO:0055085, GO:0055085, GO:0046685, GO:0046618, GO:0043627, GO:0042178, GO:0038183, GO:0035690, GO:0033762, GO:0032355, GO:0031427, GO:0030644, GO:0015732, GO:0015723, GO:0015722, GO:0015721, GO:0015694, GO:0010629, GO:0009408, GO:0007565, GO:0006979, GO:0006954, GO:0006855, xenobiotic transport across blood-brain barrier, xenobiotic detoxification by transmembrane export across the plasma membrane, response to 17alpha-ethynylestradiol, benzylpenicillin metabolic process, transport across blood-brain barrier, regulation of bile acid secretion, response to antineoplastic agent, leukotriene transport, cellular response to dexamethasone stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-6, cellular response to interleukin-1, cellular response to lipopolysaccharide, transepithelial transport, thyroid hormone transport, transmembrane transport, transmembrane transport, response to arsenic-containing substance, drug export, response to estrogen, xenobiotic catabolic process, bile acid signaling pathway, cellular response to drug, response to glucagon, response to estradiol, response to methotrexate, cellular chloride ion homeostasis, prostaglandin transport, bilirubin transport, canalicular bile acid transport, bile acid and bile salt transport, mercury ion transport, negative regulation of gene expression, response to heat, female pregnancy, response to oxidative stress, inflammatory response, drug transmembrane transport, 85 55 73 82 96 90 74 64 48 ENSG00000023892 chr6 35297852 35321771 + DEF6 protein_coding DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]. 50619 GO:0048471, GO:0030175, GO:0016020, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005654, GO:0005634, perinuclear region of cytoplasm, filopodium, membrane, plasma membrane, cytoskeleton, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, 1157 1267 1276 1264 1468 1308 1202 1108 1004 ENSG00000023902 chr1 150149183 150164720 + PLEKHO1 protein_coding 51177 GO:0036195, GO:0032587, GO:0005737, GO:0005634, muscle cell projection membrane, ruffle membrane, cytoplasm, nucleus, GO:0005515, protein binding, GO:0072673, GO:0051451, GO:0008360, GO:0007520, lamellipodium morphogenesis, myoblast migration, regulation of cell shape, myoblast fusion, 2019 1311 2506 628 1192 684 740 1083 720 ENSG00000023909 chr1 93885205 93909456 - GCLM protein_coding Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 2730 GO:0017109, GO:0017109, GO:0005829, GO:0005829, glutamate-cysteine ligase complex, glutamate-cysteine ligase complex, cytosol, cytosol, GO:0044877, GO:0035226, GO:0030234, GO:0005515, GO:0004357, protein-containing complex binding, glutamate-cysteine ligase catalytic subunit binding, enzyme regulator activity, protein binding, glutamate-cysteine ligase activity, GO:2001237, GO:1990830, GO:0097746, GO:0097069, GO:0071372, GO:0071333, GO:0051900, GO:0051409, GO:0044752, GO:0044344, GO:0043524, GO:0042493, GO:0035733, GO:0035729, GO:0035229, GO:0014823, GO:0008637, GO:0007584, GO:0007568, GO:0006979, GO:0006750, GO:0006750, GO:0006750, GO:0006750, GO:0006750, GO:0006536, GO:0006534, negative regulation of extrinsic apoptotic signaling pathway, cellular response to leukemia inhibitory factor, blood vessel diameter maintenance, cellular response to thyroxine stimulus, cellular response to follicle-stimulating hormone stimulus, cellular response to glucose stimulus, regulation of mitochondrial depolarization, response to nitrosative stress, response to human chorionic gonadotropin, cellular response to fibroblast growth factor stimulus, negative regulation of neuron apoptotic process, response to drug, hepatic stellate cell activation, cellular response to hepatocyte growth factor stimulus, positive regulation of glutamate-cysteine ligase activity, response to activity, apoptotic mitochondrial changes, response to nutrient, aging, response to oxidative stress, glutathione biosynthetic process, glutathione biosynthetic process, glutathione biosynthetic process, glutathione biosynthetic process, glutathione biosynthetic process, glutamate metabolic process, cysteine metabolic process, 58 47 87 75 67 73 82 36 86 ENSG00000024048 chr6 42564062 42693504 + UBR2 protein_coding This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 23304 GO:0005829, GO:0005737, GO:0005634, GO:0000785, GO:0000151, cytosol, cytoplasm, nucleus, chromatin, ubiquitin ligase complex, GO:0070728, GO:0061630, GO:0008270, GO:0005515, leucine binding, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0071596, GO:0071233, GO:0033522, GO:0033522, GO:0032007, GO:0016567, GO:0010529, GO:0007283, GO:0007141, GO:0007140, GO:0007131, GO:0006342, GO:0006342, GO:0000209, ubiquitin-dependent protein catabolic process via the N-end rule pathway, cellular response to leucine, histone H2A ubiquitination, histone H2A ubiquitination, negative regulation of TOR signaling, protein ubiquitination, negative regulation of transposition, spermatogenesis, male meiosis I, male meiotic nuclear division, reciprocal meiotic recombination, chromatin silencing, chromatin silencing, protein polyubiquitination, 6233 6247 6709 3439 5277 4356 3932 3766 3399 ENSG00000024422 chr19 47713343 47743134 + EHD2 protein_coding This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]. 30846 GO:0070062, GO:0055038, GO:0055038, GO:0048471, GO:0045171, GO:0043231, GO:0030139, GO:0019898, GO:0015630, GO:0010008, GO:0005901, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005769, GO:0005737, GO:0005634, extracellular exosome, recycling endosome membrane, recycling endosome membrane, perinuclear region of cytoplasm, intercellular bridge, intracellular membrane-bounded organelle, endocytic vesicle, extrinsic component of membrane, microtubule cytoskeleton, endosome membrane, caveola, plasma membrane, plasma membrane, plasma membrane, cytosol, early endosome, cytoplasm, nucleus, GO:0042802, GO:0019904, GO:0016787, GO:0005525, GO:0005524, GO:0005515, GO:0005509, GO:0003676, identical protein binding, protein domain specific binding, hydrolase activity, GTP binding, ATP binding, protein binding, calcium ion binding, nucleic acid binding, GO:2001137, GO:1901741, GO:0097320, GO:0072659, GO:0072659, GO:0060271, GO:0032456, GO:0032456, GO:0030866, GO:0016197, GO:0007596, GO:0006897, positive regulation of endocytic recycling, positive regulation of myoblast fusion, plasma membrane tubulation, protein localization to plasma membrane, protein localization to plasma membrane, cilium assembly, endocytic recycling, endocytic recycling, cortical actin cytoskeleton organization, endosomal transport, blood coagulation, endocytosis, 0 0 0 0 0 0 1 1 0 ENSG00000024526 chr1 68474152 68497221 - DEPDC1 protein_coding 55635 GO:0017053, GO:0017053, GO:0005634, GO:0005634, transcription repressor complex, transcription repressor complex, nucleus, nucleus, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0045892, GO:0043547, GO:0035556, negative regulation of transcription, DNA-templated, positive regulation of GTPase activity, intracellular signal transduction, 0 0 0 8 0 0 0 0 0 ENSG00000024862 chr6 138773509 138793319 + CCDC28A protein_coding This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]. 25901 GO:0005515, protein binding, 535 519 542 195 478 264 257 346 224 ENSG00000025039 chr6 89364636 89412270 - RRAGD protein_coding RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]. 58528 GO:1990131, GO:0034448, GO:0005829, GO:0005813, GO:0005764, GO:0005764, GO:0005737, GO:0005654, GO:0005634, GO:0005634, Gtr1-Gtr2 GTPase complex, EGO complex, cytosol, centrosome, lysosome, lysosome, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0051020, GO:0046982, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GTPase binding, protein heterodimerization activity, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1990253, GO:1904263, GO:0071233, GO:0071230, GO:0071230, GO:0034613, GO:0032008, GO:0032008, GO:0016241, GO:0010506, GO:0009267, GO:0007050, cellular response to leucine starvation, positive regulation of TORC1 signaling, cellular response to leucine, cellular response to amino acid stimulus, cellular response to amino acid stimulus, cellular protein localization, positive regulation of TOR signaling, positive regulation of TOR signaling, regulation of macroautophagy, regulation of autophagy, cellular response to starvation, cell cycle arrest, 544 490 723 384 496 281 342 401 326 ENSG00000025156 chr6 122399546 122433119 + HSF2 protein_coding The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. 3298 GO:0005737, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0042802, GO:0005515, GO:0003700, GO:0001228, GO:0001162, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0007283, GO:0006357, positive regulation of transcription by RNA polymerase II, spermatogenesis, regulation of transcription by RNA polymerase II, 42 24 64 56 30 85 71 39 52 ENSG00000025293 chr20 35771974 35950381 + PHF20 protein_coding 51230 GO:0071339, GO:0071339, GO:0044545, GO:0031965, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0000123, MLL1 complex, MLL1 complex, NSL complex, nuclear membrane, cytosol, cytosol, nucleoplasm, nucleoplasm, histone acetyltransferase complex, GO:0046972, GO:0046872, GO:0043996, GO:0043995, GO:0005515, GO:0003677, histone acetyltransferase activity (H4-K16 specific), metal ion binding, histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), protein binding, DNA binding, GO:1901796, GO:0043984, GO:0043984, GO:0043982, GO:0043982, GO:0043981, GO:0043981, GO:0016573, GO:0006357, regulation of signal transduction by p53 class mediator, histone H4-K16 acetylation, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H4-K5 acetylation, histone acetylation, regulation of transcription by RNA polymerase II, 986 1125 1248 536 825 836 609 700 635 ENSG00000025423 chr12 56752161 56787790 + HSD17B6 protein_coding The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]. 8630 GO:0031901, GO:0005783, early endosome membrane, endoplasmic reticulum, GO:0047044, GO:0047035, GO:0047024, GO:0047023, GO:0016491, GO:0009055, GO:0004745, GO:0004303, GO:0003824, androstan-3-alpha,17-beta-diol dehydrogenase activity, testosterone dehydrogenase (NAD+) activity, 5alpha-androstane-3beta,17beta-diol dehydrogenase activity, androsterone dehydrogenase activity, oxidoreductase activity, electron transfer activity, retinol dehydrogenase activity, estradiol 17-beta-dehydrogenase activity, catalytic activity, GO:0062175, GO:0022900, GO:0006710, GO:0006702, brexanolone catabolic process, electron transport chain, androgen catabolic process, androgen biosynthetic process, 0 0 1 4 0 2 3 1 4 ENSG00000025434 chr11 47248300 47269032 + NR1H3 protein_coding The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 10062 GO:0090575, GO:0043235, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, receptor complex, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0032810, GO:0015485, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0004879, GO:0003677, GO:0000981, GO:0000978, GO:0000976, GO:0000976, sterol response element binding, cholesterol binding, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, nuclear receptor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1903573, GO:0120163, GO:0090341, GO:0090188, GO:0071222, GO:0070328, GO:0060336, GO:0055092, GO:0055088, GO:0051006, GO:0050728, GO:0050728, GO:0048550, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045723, GO:0043277, GO:0043031, GO:0042752, GO:0042632, GO:0042632, GO:0036151, GO:0034145, GO:0032570, GO:0032376, GO:0032369, GO:0032270, GO:0030522, GO:0030154, GO:0010887, GO:0010875, GO:0010875, GO:0010867, GO:0010745, GO:0006367, GO:0000122, GO:0000122, negative regulation of response to endoplasmic reticulum stress, negative regulation of cold-induced thermogenesis, negative regulation of secretion of lysosomal enzymes, negative regulation of pancreatic juice secretion, cellular response to lipopolysaccharide, triglyceride homeostasis, negative regulation of interferon-gamma-mediated signaling pathway, sterol homeostasis, lipid homeostasis, positive regulation of lipoprotein lipase activity, negative regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of pinocytosis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of fatty acid biosynthetic process, apoptotic cell clearance, negative regulation of macrophage activation, regulation of circadian rhythm, cholesterol homeostasis, cholesterol homeostasis, phosphatidylcholine acyl-chain remodeling, positive regulation of toll-like receptor 4 signaling pathway, response to progesterone, positive regulation of cholesterol transport, negative regulation of lipid transport, positive regulation of cellular protein metabolic process, intracellular receptor signaling pathway, cell differentiation, negative regulation of cholesterol storage, positive regulation of cholesterol efflux, positive regulation of cholesterol efflux, positive regulation of triglyceride biosynthetic process, negative regulation of macrophage derived foam cell differentiation, transcription initiation from RNA polymerase II promoter, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 10 26 20 17 24 25 13 27 14 ENSG00000025708 chr22 50525752 50530056 - TYMP protein_coding This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]. 1890 GO:0005829, GO:0005829, cytosol, cytosol, GO:0042803, GO:0016154, GO:0009032, GO:0009032, GO:0008083, GO:0005515, GO:0004645, protein homodimerization activity, pyrimidine-nucleoside phosphorylase activity, thymidine phosphorylase activity, thymidine phosphorylase activity, growth factor activity, protein binding, 1,4-alpha-oligoglucan phosphorylase activity, GO:1905333, GO:0051969, GO:0046135, GO:0043097, GO:0031641, GO:0030154, GO:0007165, GO:0006935, GO:0006213, GO:0006213, GO:0006206, GO:0001525, GO:0000002, regulation of gastric motility, regulation of transmission of nerve impulse, pyrimidine nucleoside catabolic process, pyrimidine nucleoside salvage, regulation of myelination, cell differentiation, signal transduction, chemotaxis, pyrimidine nucleoside metabolic process, pyrimidine nucleoside metabolic process, pyrimidine nucleobase metabolic process, angiogenesis, mitochondrial genome maintenance, 3289 2656 3291 1118 1803 1331 1565 1550 1180 ENSG00000025770 chr22 50508216 50523472 + NCAPH2 protein_coding This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]. 29781 GO:0045171, GO:0030054, GO:0016020, GO:0005654, GO:0005654, GO:0005634, GO:0000796, intercellular bridge, cell junction, membrane, nucleoplasm, nucleoplasm, nucleus, condensin complex, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0051309, GO:0051306, GO:0033077, GO:0010032, GO:0007076, female meiosis chromosome separation, mitotic sister chromatid separation, T cell differentiation in thymus, meiotic chromosome condensation, mitotic chromosome condensation, 608 564 701 419 472 469 577 378 354 ENSG00000025772 chr20 44942130 44960486 - TOMM34 protein_coding The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]. 10953 GO:0016021, GO:0016020, GO:0005829, GO:0005741, GO:0005739, GO:0005634, integral component of membrane, membrane, cytosol, mitochondrial outer membrane, mitochondrion, nucleus, GO:0031072, GO:0031072, GO:0005515, heat shock protein binding, heat shock protein binding, protein binding, GO:0006626, GO:0006626, protein targeting to mitochondrion, protein targeting to mitochondrion, 35 54 50 38 50 76 59 33 61 ENSG00000025796 chr6 107867756 107958189 - SEC63 protein_coding The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]. 11231 GO:0031207, GO:0016021, GO:0016020, GO:0005829, GO:0005789, GO:0005783, Sec62/Sec63 complex, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0038023, GO:0008320, GO:0005515, GO:0003723, GO:0003723, signaling receptor activity, protein transmembrane transporter activity, protein binding, RNA binding, RNA binding, GO:0031204, GO:0010259, GO:0006807, GO:0006620, GO:0006620, GO:0006614, GO:0006614, GO:0006612, GO:0001889, posttranslational protein targeting to membrane, translocation, multicellular organism aging, nitrogen compound metabolic process, posttranslational protein targeting to endoplasmic reticulum membrane, posttranslational protein targeting to endoplasmic reticulum membrane, SRP-dependent cotranslational protein targeting to membrane, SRP-dependent cotranslational protein targeting to membrane, protein targeting to membrane, liver development, 397 348 543 318 275 423 257 237 348 ENSG00000025800 chr1 32108038 32176568 + KPNA6 protein_coding Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]. 23633 GO:0043657, GO:0016020, GO:0005737, GO:0005654, GO:0005634, host cell, membrane, cytoplasm, nucleoplasm, nucleus, GO:0061608, GO:0008139, GO:0005515, nuclear import signal receptor activity, nuclear localization sequence binding, protein binding, GO:1903902, GO:1900017, GO:0075506, GO:0060135, GO:0045944, GO:0030682, GO:0019079, GO:0006607, positive regulation of viral life cycle, positive regulation of cytokine production involved in inflammatory response, entry of viral genome into host nucleus through nuclear pore complex via importin, maternal process involved in female pregnancy, positive regulation of transcription by RNA polymerase II, mitigation of host defenses by symbiont, viral genome replication, NLS-bearing protein import into nucleus, 405 405 582 290 314 298 295 232 297 ENSG00000026025 chr10 17228259 17237593 + VIM protein_coding This gene encodes a type III intermediate filament protein. Intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton. The encoded protein is responsible for maintaining cell shape and integrity of the cytoplasm, and stabilizing cytoskeletal interactions. This protein is involved in neuritogenesis and cholesterol transport and functions as an organizer of a number of other critical proteins involved in cell attachment, migration, and signaling. Bacterial and viral pathogens have been shown to attach to this protein on the host cell surface. Mutations in this gene are associated with congenital cataracts in human patients. [provided by RefSeq, Aug 2017]. 7431 GO:1990904, GO:0070062, GO:0045335, GO:0045111, GO:0043005, GO:0031252, GO:0016363, GO:0005925, GO:0005886, GO:0005882, GO:0005856, GO:0005856, GO:0005844, GO:0005829, GO:0005829, GO:0005777, GO:0005737, ribonucleoprotein complex, extracellular exosome, phagocytic vesicle, intermediate filament cytoskeleton, neuron projection, cell leading edge, nuclear matrix, focal adhesion, plasma membrane, intermediate filament, cytoskeleton, cytoskeleton, polysome, cytosol, cytosol, peroxisome, cytoplasm, GO:1990254, GO:0097110, GO:0042802, GO:0019904, GO:0005515, GO:0005212, GO:0005200, GO:0003725, keratin filament binding, scaffold protein binding, identical protein binding, protein domain specific binding, protein binding, structural constituent of eye lens, structural constituent of cytoskeleton, double-stranded RNA binding, GO:0071346, GO:0071225, GO:0071222, GO:0070307, GO:0060395, GO:0060020, GO:0045727, GO:0045109, GO:0043488, GO:0032967, GO:0030049, GO:0019221, GO:0016032, GO:0014002, GO:0010977, cellular response to interferon-gamma, cellular response to muramyl dipeptide, cellular response to lipopolysaccharide, lens fiber cell development, SMAD protein signal transduction, Bergmann glial cell differentiation, positive regulation of translation, intermediate filament organization, regulation of mRNA stability, positive regulation of collagen biosynthetic process, muscle filament sliding, cytokine-mediated signaling pathway, viral process, astrocyte development, negative regulation of neuron projection development, 7306 6947 9405 4429 6557 8699 5565 6438 7864 ENSG00000026036 chr20 63659300 63698684 + RTEL1-TNFRSF6B protein_coding 3 4 7 8 1 4 1 3 3 ENSG00000026103 chr10 88990582 89015785 + FAS protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]. 355 GO:0070062, GO:0045121, GO:0045121, GO:0031265, GO:0031265, GO:0031264, GO:0016604, GO:0016021, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, extracellular exosome, membrane raft, membrane raft, CD95 death-inducing signaling complex, CD95 death-inducing signaling complex, death-inducing signaling complex, nuclear body, integral component of membrane, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, GO:0042802, GO:0038023, GO:0019900, GO:0005516, GO:0005515, GO:0005031, identical protein binding, signaling receptor activity, kinase binding, calmodulin binding, protein binding, tumor necrosis factor-activated receptor activity, GO:2001269, GO:2001269, GO:2001235, GO:1902042, GO:1902041, GO:0097527, GO:0097527, GO:0097192, GO:0097191, GO:0097190, GO:0097049, GO:0071455, GO:0071260, GO:0065003, GO:0043066, GO:0043065, GO:0043065, GO:0042981, GO:0042981, GO:0036337, GO:0034198, GO:0033209, GO:0032872, GO:0032872, GO:0007165, GO:0006955, GO:0006924, GO:0006919, GO:0006915, GO:0001934, positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, positive regulation of apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, necroptotic signaling pathway, necroptotic signaling pathway, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, motor neuron apoptotic process, cellular response to hyperoxia, cellular response to mechanical stimulus, protein-containing complex assembly, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, regulation of apoptotic process, Fas signaling pathway, cellular response to amino acid starvation, tumor necrosis factor-mediated signaling pathway, regulation of stress-activated MAPK cascade, regulation of stress-activated MAPK cascade, signal transduction, immune response, activation-induced cell death of T cells, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, positive regulation of protein phosphorylation, 1685 898 2541 631 603 1039 821 638 945 ENSG00000026297 chr6 166929504 166957191 - RNASET2 protein_coding This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008]. 8635 GO:0070062, GO:0043202, GO:0035578, GO:0005788, GO:0005764, GO:0005758, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, endoplasmic reticulum lumen, lysosome, mitochondrial intermembrane space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0033897, GO:0016829, GO:0004540, GO:0004521, GO:0003723, ribonuclease T2 activity, lyase activity, ribonuclease activity, endoribonuclease activity, RNA binding, GO:0090502, GO:0045087, GO:0043312, GO:0006401, GO:0006401, RNA phosphodiester bond hydrolysis, endonucleolytic, innate immune response, neutrophil degranulation, RNA catabolic process, RNA catabolic process, 7199 5601 5636 5785 6783 5091 6294 4806 4171 ENSG00000026508 chr11 35138870 35232402 + CD44 protein_coding The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]. 960 GO:0070062, GO:0042995, GO:0035692, GO:0035692, GO:0031258, GO:0030667, GO:0016324, GO:0016323, GO:0009986, GO:0005925, GO:0005902, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005794, extracellular exosome, cell projection, macrophage migration inhibitory factor receptor complex, macrophage migration inhibitory factor receptor complex, lamellipodium membrane, secretory granule membrane, apical plasma membrane, basolateral plasma membrane, cell surface, focal adhesion, microvillus, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, GO:0005540, GO:0005540, GO:0005540, GO:0005518, GO:0005515, GO:0004896, GO:0004896, GO:0004888, hyaluronic acid binding, hyaluronic acid binding, hyaluronic acid binding, collagen binding, protein binding, cytokine receptor activity, cytokine receptor activity, transmembrane signaling receptor activity, GO:2000392, GO:1902166, GO:1900625, GO:0098609, GO:0070487, GO:0070374, GO:0070374, GO:0060333, GO:0051216, GO:0050900, GO:0050731, GO:0044344, GO:0044319, GO:0043518, GO:0043312, GO:0043154, GO:0043066, GO:0042110, GO:0034116, GO:0033138, GO:0030214, GO:0030214, GO:0030198, GO:0022617, GO:0016477, GO:0007160, GO:0007155, GO:0007155, GO:0006954, regulation of lamellipodium morphogenesis, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of monocyte aggregation, cell-cell adhesion, monocyte aggregation, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, interferon-gamma-mediated signaling pathway, cartilage development, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, cellular response to fibroblast growth factor stimulus, wound healing, spreading of cells, negative regulation of DNA damage response, signal transduction by p53 class mediator, neutrophil degranulation, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, T cell activation, positive regulation of heterotypic cell-cell adhesion, positive regulation of peptidyl-serine phosphorylation, hyaluronan catabolic process, hyaluronan catabolic process, extracellular matrix organization, extracellular matrix disassembly, cell migration, cell-matrix adhesion, cell adhesion, cell adhesion, inflammatory response, 2707 1545 3267 1915 1240 2159 1986 1046 1808 ENSG00000026559 chr20 51003656 51023129 - KCNG1 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]. 3755 GO:0016021, GO:0008076, GO:0008076, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, plasma membrane, GO:0005267, GO:0005251, GO:0005251, GO:0005251, GO:0005249, potassium channel activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:1902259, GO:1902259, GO:0071805, GO:0071805, GO:0071805, GO:0051260, GO:0006813, regulation of delayed rectifier potassium channel activity, regulation of delayed rectifier potassium channel activity, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, protein homooligomerization, potassium ion transport, 0 0 0 4 0 8 2 5 0 ENSG00000026652 chr6 161129979 161274061 - AGPAT4 protein_coding This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008]. 56895 GO:0016021, GO:0012505, GO:0005789, GO:0005783, GO:0005741, integral component of membrane, endomembrane system, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial outer membrane, GO:0016746, GO:0005515, GO:0003841, GO:0003841, GO:0003841, transferase activity, transferring acyl groups, protein binding, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0016024, GO:0008654, GO:0006654, CDP-diacylglycerol biosynthetic process, phospholipid biosynthetic process, phosphatidic acid biosynthetic process, 40 50 62 87 104 92 104 65 50 ENSG00000026751 chr1 160739057 160754821 + SLAMF7 protein_coding 57823 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0042802, identical protein binding, GO:0050776, GO:0042267, GO:0030101, GO:0007155, GO:0002250, regulation of immune response, natural killer cell mediated cytotoxicity, natural killer cell activation, cell adhesion, adaptive immune response, 72 73 244 2490 1690 4183 2924 1752 2518 ENSG00000026950 chr6 26402237 26415216 + BTN3A1 protein_coding The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]. 11119 GO:0016021, GO:0009897, GO:0005886, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0050852, GO:0050852, GO:0050798, GO:0032609, GO:0002250, GO:0001817, GO:0001816, T cell receptor signaling pathway, T cell receptor signaling pathway, activated T cell proliferation, interferon-gamma production, adaptive immune response, regulation of cytokine production, cytokine production, 2856 2338 2220 2373 2104 1824 2451 1603 1454 ENSG00000027001 chr13 23730189 23889419 - MIPEP protein_coding The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]. 4285 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0046872, GO:0004222, metal ion binding, metalloendopeptidase activity, GO:0006627, GO:0006518, GO:0006508, protein processing involved in protein targeting to mitochondrion, peptide metabolic process, proteolysis, 4 4 6 13 7 21 15 2 9 ENSG00000027075 chr14 61187559 61550976 + PRKCH protein_coding Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]. 5583 GO:0070062, GO:0005886, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, plasma membrane, cytosol, cytosol, cytoplasm, GO:0046872, GO:0019899, GO:0005524, GO:0005515, GO:0004698, GO:0004697, GO:0004674, metal ion binding, enzyme binding, ATP binding, protein binding, calcium-dependent protein kinase C activity, protein kinase C activity, protein serine/threonine kinase activity, GO:2000810, GO:1903078, GO:0060252, GO:0051092, GO:0050861, GO:0045618, GO:0035556, GO:0034351, GO:0030168, GO:0018105, GO:0010744, GO:0007165, GO:0006468, regulation of bicellular tight junction assembly, positive regulation of protein localization to plasma membrane, positive regulation of glial cell proliferation, positive regulation of NF-kappaB transcription factor activity, positive regulation of B cell receptor signaling pathway, positive regulation of keratinocyte differentiation, intracellular signal transduction, negative regulation of glial cell apoptotic process, platelet activation, peptidyl-serine phosphorylation, positive regulation of macrophage derived foam cell differentiation, signal transduction, protein phosphorylation, 358 228 622 479 183 706 414 180 456 ENSG00000027644 chr1 156840063 156859018 - INSRR protein_coding 3645 GO:0043235, GO:0043235, GO:0030424, GO:0005899, GO:0005887, GO:0005887, receptor complex, receptor complex, axon, insulin receptor complex, integral component of plasma membrane, integral component of plasma membrane, GO:0043560, GO:0043548, GO:0005524, GO:0005515, GO:0005009, GO:0004714, GO:0004714, GO:0004714, insulin receptor substrate binding, phosphatidylinositol 3-kinase binding, ATP binding, protein binding, insulin-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, GO:0071469, GO:0046777, GO:0033674, GO:0031532, GO:0030238, GO:0018108, GO:0008286, GO:0007275, GO:0007169, GO:0007169, cellular response to alkaline pH, protein autophosphorylation, positive regulation of kinase activity, actin cytoskeleton reorganization, male sex determination, peptidyl-tyrosine phosphorylation, insulin receptor signaling pathway, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, 0 1 0 0 0 7 0 1 0 ENSG00000027697 chr6 137197484 137219449 - IFNGR1 protein_coding This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]. 3459 GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0019955, GO:0005515, GO:0004906, GO:0004896, cytokine binding, protein binding, interferon-gamma receptor activity, cytokine receptor activity, GO:1902004, GO:1900222, GO:0060334, GO:0060333, GO:0048143, GO:0032760, GO:0019221, GO:0010628, GO:0009615, GO:0007165, GO:0001774, positive regulation of amyloid-beta formation, negative regulation of amyloid-beta clearance, regulation of interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, astrocyte activation, positive regulation of tumor necrosis factor production, cytokine-mediated signaling pathway, positive regulation of gene expression, response to virus, signal transduction, microglial cell activation, 7484 7485 11083 1396 3426 3161 1589 2751 2677 ENSG00000027847 chr5 177600100 177610347 + B4GALT7 protein_coding This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]. 11285 GO:0032580, GO:0016021, GO:0005794, GO:0000139, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046525, GO:0046525, GO:0030145, GO:0008378, GO:0008378, GO:0005515, GO:0003831, xylosylprotein 4-beta-galactosyltransferase activity, xylosylprotein 4-beta-galactosyltransferase activity, manganese ion binding, galactosyltransferase activity, galactosyltransferase activity, protein binding, beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity, GO:0097435, GO:0048147, GO:0030203, GO:0006487, GO:0006464, GO:0006029, GO:0006024, GO:0005975, supramolecular fiber organization, negative regulation of fibroblast proliferation, glycosaminoglycan metabolic process, protein N-linked glycosylation, cellular protein modification process, proteoglycan metabolic process, glycosaminoglycan biosynthetic process, carbohydrate metabolic process, 12 19 32 31 11 40 40 14 32 ENSG00000027869 chr1 156806243 156816862 - SH2D2A protein_coding This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 9047 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0017124, GO:0005515, SH3 domain binding, protein binding, GO:0048010, GO:0030154, GO:0008283, GO:0007165, GO:0001525, vascular endothelial growth factor receptor signaling pathway, cell differentiation, cell population proliferation, signal transduction, angiogenesis, 89 94 254 311 49 436 347 74 253 ENSG00000028116 chr2 57907629 58159920 + VRK2 protein_coding This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]. 7444 GO:0032991, GO:0031966, GO:0016021, GO:0005789, GO:0005783, GO:0005737, GO:0005737, GO:0005635, GO:0005634, GO:0005634, protein-containing complex, mitochondrial membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, cytoplasm, nuclear envelope, nucleus, nucleus, GO:0106311, GO:0106310, GO:0019904, GO:0019901, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, protein domain specific binding, protein kinase binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000659, GO:0046777, GO:0043408, GO:0034599, GO:0018105, GO:0016032, GO:0006468, regulation of interleukin-1-mediated signaling pathway, protein autophosphorylation, regulation of MAPK cascade, cellular response to oxidative stress, peptidyl-serine phosphorylation, viral process, protein phosphorylation, 69 59 113 62 44 82 92 53 81 ENSG00000028137 chr1 12167003 12209228 + TNFRSF1B protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]. 7133 GO:0048471, GO:0045121, GO:0043196, GO:0043025, GO:0035579, GO:0016021, GO:0016020, GO:0005886, GO:0005634, GO:0005576, GO:0002947, perinuclear region of cytoplasm, membrane raft, varicosity, neuronal cell body, specific granule membrane, integral component of membrane, membrane, plasma membrane, nucleus, extracellular region, tumor necrosis factor receptor superfamily complex, GO:0043120, GO:0043120, GO:0031625, GO:0005515, GO:0005031, tumor necrosis factor binding, tumor necrosis factor binding, ubiquitin protein ligase binding, protein binding, tumor necrosis factor-activated receptor activity, GO:2001141, GO:1902339, GO:1901215, GO:1901215, GO:0150098, GO:0150079, GO:0150079, GO:0150077, GO:0097191, GO:0071363, GO:0071222, GO:0060548, GO:0051044, GO:0051044, GO:0050779, GO:0048714, GO:0048714, GO:0043312, GO:0042129, GO:0042129, GO:0033209, GO:0031643, GO:0031643, GO:0031641, GO:0019221, GO:0010614, GO:0008630, GO:0007568, GO:0006954, GO:0003332, GO:0003177, GO:0003176, GO:0002724, GO:0002724, GO:0002718, regulation of RNA biosynthetic process, positive regulation of apoptotic process involved in morphogenesis, negative regulation of neuron death, negative regulation of neuron death, glial cell-neuron signaling, negative regulation of neuroinflammatory response, negative regulation of neuroinflammatory response, regulation of neuroinflammatory response, extrinsic apoptotic signaling pathway, cellular response to growth factor stimulus, cellular response to lipopolysaccharide, negative regulation of cell death, positive regulation of membrane protein ectodomain proteolysis, positive regulation of membrane protein ectodomain proteolysis, RNA destabilization, positive regulation of oligodendrocyte differentiation, positive regulation of oligodendrocyte differentiation, neutrophil degranulation, regulation of T cell proliferation, regulation of T cell proliferation, tumor necrosis factor-mediated signaling pathway, positive regulation of myelination, positive regulation of myelination, regulation of myelination, cytokine-mediated signaling pathway, negative regulation of cardiac muscle hypertrophy, intrinsic apoptotic signaling pathway in response to DNA damage, aging, inflammatory response, negative regulation of extracellular matrix constituent secretion, pulmonary valve development, aortic valve development, regulation of T cell cytokine production, regulation of T cell cytokine production, regulation of cytokine production involved in immune response, 22395 24044 29287 3480 6788 4591 4783 5809 4327 ENSG00000028203 chr12 95217746 95302790 + VEZT protein_coding This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]. 55591 GO:0060171, GO:0016021, GO:0005912, GO:0005829, GO:0005654, GO:0002142, GO:0001669, stereocilium membrane, integral component of membrane, adherens junction, cytosol, nucleoplasm, stereocilia ankle link complex, acrosomal vesicle, GO:0017022, myosin binding, GO:0098609, cell-cell adhesion, 36 29 91 92 49 107 68 24 52 ENSG00000028277 chr19 42086110 42196585 - POU2F2 protein_coding The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 5452 GO:0043231, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0019904, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein domain specific binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0098586, GO:0048469, GO:0045944, GO:0042795, GO:0032755, GO:0006959, GO:0006357, GO:0002381, GO:0002335, cellular response to virus, cell maturation, positive regulation of transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, positive regulation of interleukin-6 production, humoral immune response, regulation of transcription by RNA polymerase II, immunoglobulin production involved in immunoglobulin-mediated immune response, mature B cell differentiation, 321 389 320 364 457 364 377 370 267 ENSG00000028310 chr5 850291 892824 - BRD9 protein_coding 65980 GO:0016514, GO:0005634, SWI/SNF complex, nucleus, GO:0070577, GO:0070577, GO:0005515, GO:0003676, lysine-acetylated histone binding, lysine-acetylated histone binding, protein binding, nucleic acid binding, GO:0008150, GO:0006357, GO:0006325, biological_process, regulation of transcription by RNA polymerase II, chromatin organization, 194 205 298 240 204 242 190 206 199 ENSG00000028528 chr15 64094123 64146090 + SNX1 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 6642 GO:0043231, GO:0032991, GO:0031982, GO:0031901, GO:0030905, GO:0030905, GO:0030904, GO:0030027, GO:0016020, GO:0010008, GO:0010008, GO:0005829, GO:0005794, GO:0005768, GO:0005768, GO:0005764, GO:0005737, intracellular membrane-bounded organelle, protein-containing complex, vesicle, early endosome membrane, retromer, tubulation complex, retromer, tubulation complex, retromer complex, lamellipodium, membrane, endosome membrane, endosome membrane, cytosol, Golgi apparatus, endosome, endosome, lysosome, cytoplasm, GO:1990460, GO:1990459, GO:0046982, GO:0045296, GO:0042803, GO:0042802, GO:0035091, GO:0035091, GO:0005515, GO:0005158, GO:0005154, leptin receptor binding, transferrin receptor binding, protein heterodimerization activity, cadherin binding, protein homodimerization activity, identical protein binding, phosphatidylinositol binding, phosphatidylinositol binding, protein binding, insulin receptor binding, epidermal growth factor receptor binding, GO:0072673, GO:0045732, GO:0042147, GO:0042147, GO:0034498, GO:0034498, GO:0031623, GO:0006886, lamellipodium morphogenesis, positive regulation of protein catabolic process, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, early endosome to Golgi transport, early endosome to Golgi transport, receptor internalization, intracellular protein transport, 843 978 1000 517 767 684 645 621 586 ENSG00000028839 chr6 133952170 133990432 + TBPL1 protein_coding This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]. 9519 GO:0005737, GO:0005672, GO:0000785, cytoplasm, transcription factor TFIIA complex, chromatin, GO:0140223, GO:0016251, GO:0005515, GO:0000979, general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, RNA polymerase II core promoter sequence-specific DNA binding, GO:0007289, GO:0006366, GO:0006352, GO:0006235, GO:0001675, spermatid nucleus differentiation, transcription by RNA polymerase II, DNA-templated transcription, initiation, dTTP biosynthetic process, acrosome assembly, 85 90 125 99 155 146 108 132 111 ENSG00000029153 chr12 27332854 27425289 + ARNTL2 protein_coding This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 56938 GO:0034751, GO:0005737, GO:0005730, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, aryl hydrocarbon receptor complex, cytoplasm, nucleolus, transcription regulator complex, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:0070888, GO:0046983, GO:0003700, GO:0003700, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, E-box binding, protein dimerization activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045893, GO:0042753, GO:0009649, GO:0007623, GO:0006357, GO:0006357, GO:0006355, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of circadian rhythm, entrainment of circadian clock, circadian rhythm, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2 3 0 1 1 0 0 0 5 ENSG00000029363 chr6 136256627 136289851 - BCLAF1 protein_coding This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9774 GO:0016607, GO:0016592, GO:0005737, GO:0005654, GO:0005634, nuclear speck, mediator complex, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003712, GO:0003677, GO:0003677, protein binding, RNA binding, transcription coregulator activity, DNA binding, DNA binding, GO:2001244, GO:2001022, GO:2000144, GO:1990830, GO:0045944, GO:0045892, GO:0045892, GO:0043620, GO:0043065, GO:0006915, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of response to DNA damage stimulus, positive regulation of DNA-templated transcription, initiation, cellular response to leukemia inhibitory factor, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of DNA-templated transcription in response to stress, positive regulation of apoptotic process, apoptotic process, 3999 4411 4396 3455 4108 4267 3736 3033 3496 ENSG00000029364 chr14 69398015 69462388 + SLC39A9 protein_coding 55334 GO:0016021, integral component of membrane, GO:0046873, GO:0005515, metal ion transmembrane transporter activity, protein binding, GO:0055085, GO:0006829, transmembrane transport, zinc ion transport, 558 439 505 352 361 307 308 271 220 ENSG00000029534 chr8 41653220 41896762 - ANK1 protein_coding Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]. 286 GO:0045211, GO:0043005, GO:0042383, GO:0031430, GO:0030673, GO:0030018, GO:0016529, GO:0016323, GO:0014731, GO:0009898, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005634, postsynaptic membrane, neuron projection, sarcolemma, M band, axolemma, Z disc, sarcoplasmic reticulum, basolateral plasma membrane, spectrin-associated cytoskeleton, cytoplasmic side of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, nucleus, GO:0051117, GO:0044325, GO:0030507, GO:0030507, GO:0030507, GO:0030507, GO:0019903, GO:0019899, GO:0019899, GO:0008093, GO:0008093, GO:0008093, GO:0005515, GO:0005200, GO:0005198, ATPase binding, ion channel binding, spectrin binding, spectrin binding, spectrin binding, spectrin binding, protein phosphatase binding, enzyme binding, enzyme binding, cytoskeletal anchor activity, cytoskeletal anchor activity, cytoskeletal anchor activity, protein binding, structural constituent of cytoskeleton, structural molecule activity, GO:0072659, GO:0072659, GO:0045199, GO:0010638, GO:0007165, GO:0007010, GO:0006888, GO:0006888, GO:0006887, protein localization to plasma membrane, protein localization to plasma membrane, maintenance of epithelial cell apical/basal polarity, positive regulation of organelle organization, signal transduction, cytoskeleton organization, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, exocytosis, 11 6 11 21 9 3 10 3 3 ENSG00000029559 chr4 87799581 87812435 + IBSP protein_coding The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]. 3381 GO:0031982, GO:0016020, GO:0005615, GO:0005576, vesicle, membrane, extracellular space, extracellular region, GO:0005515, GO:0005178, GO:0003674, protein binding, integrin binding, molecular_function, GO:0071363, GO:0045785, GO:0030282, GO:0030198, GO:0030198, GO:0030198, GO:0007155, GO:0001649, cellular response to growth factor stimulus, positive regulation of cell adhesion, bone mineralization, extracellular matrix organization, extracellular matrix organization, extracellular matrix organization, cell adhesion, osteoblast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000029639 chr6 155257509 155314493 - TFB1M protein_coding The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]. 51106 GO:0042645, GO:0005759, GO:0005759, mitochondrial nucleoid, mitochondrial matrix, mitochondrial matrix, GO:0034246, GO:0005515, GO:0003723, GO:0003677, GO:0000179, GO:0000179, mitochondrial transcription factor activity, protein binding, RNA binding, DNA binding, rRNA (adenine-N6,N6-)-dimethyltransferase activity, rRNA (adenine-N6,N6-)-dimethyltransferase activity, GO:0031167, GO:0007005, GO:0006391, GO:0000154, rRNA methylation, mitochondrion organization, transcription initiation from mitochondrial promoter, rRNA modification, 15 17 13 25 26 12 19 13 15 ENSG00000029725 chr17 5282265 5385812 + RABEP1 protein_coding 9135 GO:0055037, GO:0043231, GO:0043231, GO:0032991, GO:0031901, GO:0030139, GO:0030139, GO:0005769, GO:0005768, GO:0005768, recycling endosome, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, protein-containing complex, early endosome membrane, endocytic vesicle, endocytic vesicle, early endosome, endosome, endosome, GO:0042803, GO:0019904, GO:0008083, GO:0005515, GO:0005096, protein homodimerization activity, protein domain specific binding, growth factor activity, protein binding, GTPase activator activity, GO:1903441, GO:0061025, GO:0043547, GO:0016192, GO:0015031, GO:0007165, GO:0006915, GO:0006897, GO:0006893, GO:0006893, protein localization to ciliary membrane, membrane fusion, positive regulation of GTPase activity, vesicle-mediated transport, protein transport, signal transduction, apoptotic process, endocytosis, Golgi to plasma membrane transport, Golgi to plasma membrane transport, 592 541 669 508 598 530 598 469 503 ENSG00000029993 chrX 150980509 150990775 + HMGB3 protein_coding This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 3149 GO:0000785, chromatin, GO:0008301, GO:0008301, GO:0005515, GO:0003723, GO:0003690, GO:0000400, DNA binding, bending, DNA binding, bending, protein binding, RNA binding, double-stranded DNA binding, four-way junction DNA binding, GO:0045638, GO:0045578, GO:0045087, GO:0032392, GO:0007275, GO:0006357, GO:0006310, negative regulation of myeloid cell differentiation, negative regulation of B cell differentiation, innate immune response, DNA geometric change, multicellular organism development, regulation of transcription by RNA polymerase II, DNA recombination, 4 0 5 9 1 15 10 1 2 ENSG00000030066 chr11 47778087 47848555 - NUP160 protein_coding NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]. 23279 GO:0043657, GO:0031080, GO:0031080, GO:0005829, GO:0005643, GO:0005643, GO:0005635, GO:0000776, host cell, nuclear pore outer ring, nuclear pore outer ring, cytosol, nuclear pore, nuclear pore, nuclear envelope, kinetochore, GO:0017056, GO:0017056, GO:0005515, structural constituent of nuclear pore, structural constituent of nuclear pore, protein binding, GO:1900034, GO:0075733, GO:0072006, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006409, GO:0006406, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, nephron development, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, tRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 228 244 336 203 213 269 202 146 180 ENSG00000030110 chr6 33572547 33580293 - BAK1 protein_coding The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]. 578 GO:0097145, GO:0097136, GO:0046930, GO:0031307, GO:0005829, GO:0005783, GO:0005741, GO:0005741, GO:0005741, GO:0005739, BAK complex, Bcl-2 family protein complex, pore complex, integral component of mitochondrial outer membrane, cytosol, endoplasmic reticulum, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, GO:0051400, GO:0051087, GO:0046982, GO:0046982, GO:0046872, GO:0044877, GO:0044325, GO:0042803, GO:0042803, GO:0042802, GO:0031072, GO:0005515, GO:0003674, BH domain binding, chaperone binding, protein heterodimerization activity, protein heterodimerization activity, metal ion binding, protein-containing complex binding, ion channel binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, heat shock protein binding, protein binding, molecular_function, GO:1903896, GO:1902262, GO:1901030, GO:1900103, GO:0097202, GO:0097192, GO:0097190, GO:0090200, GO:0071260, GO:0070242, GO:0070059, GO:0060068, GO:0051881, GO:0051726, GO:0048597, GO:0046902, GO:0045862, GO:0045471, GO:0044346, GO:0043065, GO:0043065, GO:0042542, GO:0042493, GO:0035108, GO:0034644, GO:0034644, GO:0034620, GO:0033137, GO:0032471, GO:0032469, GO:0031334, GO:0031100, GO:0031018, GO:0016032, GO:0014070, GO:0010629, GO:0010524, GO:0010332, GO:0010248, GO:0010225, GO:0010046, GO:0009620, GO:0008635, GO:0008630, GO:0008285, GO:0008283, GO:0008053, GO:0007568, GO:0007420, GO:0006915, GO:0006915, GO:0002352, GO:0002262, GO:0001974, GO:0001836, GO:0001836, GO:0001783, GO:0001782, positive regulation of IRE1-mediated unfolded protein response, apoptotic process involved in blood vessel morphogenesis, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, positive regulation of endoplasmic reticulum unfolded protein response, activation of cysteine-type endopeptidase activity, extrinsic apoptotic signaling pathway in absence of ligand, apoptotic signaling pathway, positive regulation of release of cytochrome c from mitochondria, cellular response to mechanical stimulus, thymocyte apoptotic process, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, vagina development, regulation of mitochondrial membrane potential, regulation of cell cycle, post-embryonic camera-type eye morphogenesis, regulation of mitochondrial membrane permeability, positive regulation of proteolysis, response to ethanol, fibroblast apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, response to hydrogen peroxide, response to drug, limb morphogenesis, cellular response to UV, cellular response to UV, cellular response to unfolded protein, negative regulation of peptidyl-serine phosphorylation, negative regulation of endoplasmic reticulum calcium ion concentration, endoplasmic reticulum calcium ion homeostasis, positive regulation of protein-containing complex assembly, animal organ regeneration, endocrine pancreas development, viral process, response to organic cyclic compound, negative regulation of gene expression, positive regulation of calcium ion transport into cytosol, response to gamma radiation, establishment or maintenance of transmembrane electrochemical gradient, response to UV-C, response to mycotoxin, response to fungus, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of cell population proliferation, cell population proliferation, mitochondrial fusion, aging, brain development, apoptotic process, apoptotic process, B cell negative selection, myeloid cell homeostasis, blood vessel remodeling, release of cytochrome c from mitochondria, release of cytochrome c from mitochondria, B cell apoptotic process, B cell homeostasis, 335 145 254 134 107 136 151 102 108 ENSG00000030304 chr9 110668771 110801620 + MUSK protein_coding This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]. 4593 GO:0045211, GO:0043235, GO:0043235, GO:0031594, GO:0005887, GO:0005887, postsynaptic membrane, receptor complex, receptor complex, neuromuscular junction, integral component of plasma membrane, integral component of plasma membrane, GO:0046872, GO:0038062, GO:0005524, GO:0005518, GO:0005515, GO:0004714, GO:0004713, metal ion binding, protein tyrosine kinase collagen receptor activity, ATP binding, collagen binding, protein binding, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2000541, GO:0071340, GO:0046777, GO:0038063, GO:0033674, GO:0030154, GO:0018108, GO:0010628, GO:0008582, GO:0007613, GO:0007528, GO:0007528, GO:0007275, GO:0007169, GO:0001934, GO:0001934, positive regulation of protein geranylgeranylation, skeletal muscle acetylcholine-gated channel clustering, protein autophosphorylation, collagen-activated tyrosine kinase receptor signaling pathway, positive regulation of kinase activity, cell differentiation, peptidyl-tyrosine phosphorylation, positive regulation of gene expression, regulation of synaptic growth at neuromuscular junction, memory, neuromuscular junction development, neuromuscular junction development, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, 0 1 0 0 0 0 0 0 0 ENSG00000030419 chr2 212999691 213152427 - IKZF2 protein_coding This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. 22807 GO:0000785, chromatin, GO:0046872, GO:0042802, GO:0005515, GO:0003700, GO:0003674, GO:0000978, metal ion binding, identical protein binding, protein binding, DNA-binding transcription factor activity, molecular_function, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0008150, GO:0006357, positive regulation of transcription by RNA polymerase II, biological_process, regulation of transcription by RNA polymerase II, 43 74 105 99 62 55 153 63 42 ENSG00000030582 chr17 44345086 44353102 + GRN protein_coding Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]. 2896 GO:0070062, GO:0035578, GO:0016020, GO:0005886, GO:0005802, GO:0005794, GO:0005783, GO:0005770, GO:0005768, GO:0005765, GO:0005764, GO:0005615, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, azurophil granule lumen, membrane, plasma membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum, late endosome, endosome, lysosomal membrane, lysosome, extracellular space, extracellular region, extracellular region, extracellular region, GO:0051087, GO:0008083, GO:0005515, GO:0005125, GO:0003723, chaperone binding, growth factor activity, protein binding, cytokine activity, RNA binding, GO:1905673, GO:1905247, GO:1905247, GO:1903979, GO:1903334, GO:1902564, GO:1900426, GO:0106016, GO:0060266, GO:0050821, GO:0050727, GO:0050679, GO:0048680, GO:0045766, GO:0043525, GO:0043524, GO:0043312, GO:0030335, GO:0010595, GO:0007165, GO:0007042, GO:0007041, GO:0007041, GO:0007040, GO:0002282, GO:0002265, positive regulation of lysosome organization, positive regulation of aspartic-type peptidase activity, positive regulation of aspartic-type peptidase activity, negative regulation of microglial cell activation, positive regulation of protein folding, negative regulation of neutrophil activation, positive regulation of defense response to bacterium, positive regulation of inflammatory response to wounding, negative regulation of respiratory burst involved in inflammatory response, protein stabilization, regulation of inflammatory response, positive regulation of epithelial cell proliferation, positive regulation of axon regeneration, positive regulation of angiogenesis, positive regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, neutrophil degranulation, positive regulation of cell migration, positive regulation of endothelial cell migration, signal transduction, lysosomal lumen acidification, lysosomal transport, lysosomal transport, lysosome organization, microglial cell activation involved in immune response, astrocyte activation involved in immune response, 3077 3428 5055 761 1599 1323 1124 1534 1240 ENSG00000031003 chr5 137937960 138051961 - FAM13B protein_coding 51306 GO:0005829, cytosol, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 816 759 1201 650 860 994 601 598 719 ENSG00000031081 chr3 119294373 119420714 + ARHGAP31 protein_coding This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]. 57514 GO:0030027, GO:0005925, GO:0005829, lamellipodium, focal adhesion, cytosol, GO:0017124, GO:0005096, SH3 domain binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0007264, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, small GTPase mediated signal transduction, 7 13 8 14 13 29 16 18 27 ENSG00000031691 chr6 49463378 49493107 + CENPQ protein_coding CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]. 55166 GO:0015629, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000776, actin cytoskeleton, cytosol, nucleoplasm, nucleoplasm, nucleus, kinetochore, GO:0005515, protein binding, GO:1905342, GO:1905342, GO:0051310, GO:0051310, GO:0034080, positive regulation of protein localization to kinetochore, positive regulation of protein localization to kinetochore, metaphase plate congression, metaphase plate congression, CENP-A containing nucleosome assembly, 6 6 15 16 19 14 14 12 18 ENSG00000031698 chr1 109213918 109238169 + SARS protein_coding This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]. 6301 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytosol, cytosol, cytoplasm, nucleus, GO:0042803, GO:0019899, GO:0005524, GO:0005515, GO:0004828, GO:0004828, GO:0003723, GO:0000978, GO:0000049, protein homodimerization activity, enzyme binding, ATP binding, protein binding, serine-tRNA ligase activity, serine-tRNA ligase activity, RNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, tRNA binding, GO:1904046, GO:0097056, GO:0016525, GO:0016259, GO:0008033, GO:0006434, GO:0006434, GO:0006434, GO:0006418, GO:0006412, GO:0000122, negative regulation of vascular endothelial growth factor production, selenocysteinyl-tRNA(Sec) biosynthetic process, negative regulation of angiogenesis, selenocysteine metabolic process, tRNA processing, seryl-tRNA aminoacylation, seryl-tRNA aminoacylation, seryl-tRNA aminoacylation, tRNA aminoacylation for protein translation, translation, negative regulation of transcription by RNA polymerase II, 352 280 352 212 259 311 240 224 220 ENSG00000031823 chr19 5916139 5978142 - RANBP3 protein_coding This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 8498 GO:0005737, GO:0005654, GO:0005643, GO:0005634, cytoplasm, nucleoplasm, nuclear pore, nucleus, GO:0070412, GO:0031267, GO:0005515, GO:0005096, R-SMAD binding, small GTPase binding, protein binding, GTPase activator activity, GO:0043547, GO:0006611, positive regulation of GTPase activity, protein export from nucleus, 357 426 465 491 522 471 444 379 451 ENSG00000032219 chr14 58298385 58373887 + ARID4A protein_coding The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]. 5926 GO:0017053, GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, transcription repressor complex, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0003677, GO:0000976, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0097368, GO:0080182, GO:0048821, GO:0045944, GO:0045892, GO:0036124, GO:0034773, GO:0007283, GO:0006357, GO:0006349, establishment of Sertoli cell barrier, histone H3-K4 trimethylation, erythrocyte development, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, histone H3-K9 trimethylation, histone H4-K20 trimethylation, spermatogenesis, regulation of transcription by RNA polymerase II, regulation of gene expression by genetic imprinting, 1816 1777 1896 1095 1673 1500 1258 1169 1212 ENSG00000032389 chr2 3188925 3377882 - EIPR1 protein_coding This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]. 7260 GO:1990745, GO:0005802, GO:0000938, EARP complex, trans-Golgi network, GARP complex, GO:0005515, protein binding, GO:2001137, GO:1905281, GO:0050796, GO:0032456, GO:0016567, positive regulation of endocytic recycling, positive regulation of retrograde transport, endosome to Golgi, regulation of insulin secretion, endocytic recycling, protein ubiquitination, 37 24 58 39 35 61 46 28 62 ENSG00000032444 chr19 7534004 7561764 + PNPLA6 protein_coding This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 10908 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102545, GO:0004622, GO:0004622, GO:0004622, phosphatidyl phospholipase B activity, lysophospholipase activity, lysophospholipase activity, lysophospholipase activity, GO:0046475, GO:0046470, glycerophospholipid catabolic process, phosphatidylcholine metabolic process, 620 774 1282 550 746 798 595 488 612 ENSG00000032742 chr13 20567069 20691437 + IFT88 protein_coding This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]. 8100 GO:0097730, GO:0097546, GO:0097542, GO:0036126, GO:0036064, GO:0036064, GO:0036064, GO:0031514, GO:0030992, GO:0005929, GO:0005929, GO:0005929, GO:0005814, GO:0005814, GO:0005814, GO:0005813, GO:0005737, non-motile cilium, ciliary base, ciliary tip, sperm flagellum, ciliary basal body, ciliary basal body, ciliary basal body, motile cilium, intraciliary transport particle B, cilium, cilium, cilium, centriole, centriole, centriole, centrosome, cytoplasm, GO:0019894, GO:0005515, kinesin binding, protein binding, GO:2000785, GO:1905515, GO:1902017, GO:0060271, GO:0060122, GO:0042073, GO:0035735, GO:0001822, regulation of autophagosome assembly, non-motile cilium assembly, regulation of cilium assembly, cilium assembly, inner ear receptor cell stereocilium organization, intraciliary transport, intraciliary transport involved in cilium assembly, kidney development, 137 124 171 87 121 132 119 97 128 ENSG00000033011 chr16 5033923 5087379 + ALG1 protein_coding The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]. 56052 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0004578, GO:0000030, chitobiosyldiphosphodolichol beta-mannosyltransferase activity, mannosyltransferase activity, GO:0097502, GO:0006488, GO:0006486, GO:0006486, mannosylation, dolichol-linked oligosaccharide biosynthetic process, protein glycosylation, protein glycosylation, 8 6 15 7 8 18 10 9 15 ENSG00000033030 chr12 122471600 122501073 - ZCCHC8 protein_coding This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, together with hMTR4 and the RNA-binding factor RBM7 which promotes the exosomal degradation of non-coding promoter-upstream transcripts, enhancer RNAs and 3'-extended products of histone- and small nuclear RNA transcription. This complex is also thought to recruit the exosome to degrade intronic RNAs via its interaction with both the exosome and the spliceosome. It contains both an N-terminal zinc-knuckle domain and a C-terminal proline-rich domain. [provided by RefSeq, Apr 2017]. 55596 GO:0071013, GO:0071013, GO:0031499, GO:0016604, GO:0005730, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, TRAMP complex, nuclear body, nucleolus, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003723, GO:0003723, GO:0003723, zinc ion binding, protein binding, RNA binding, RNA binding, RNA binding, GO:0034470, GO:0034470, GO:0016076, GO:0000398, ncRNA processing, ncRNA processing, snRNA catabolic process, mRNA splicing, via spliceosome, 296 255 365 335 380 386 349 241 355 ENSG00000033050 chr7 151212490 151227230 - ABCF2 protein_coding This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Mar 2019]. 10061 GO:0016020, membrane, GO:0016887, GO:0005524, ATPase activity, ATP binding, 13 10 25 22 13 43 24 21 10 ENSG00000033100 chr7 151232489 151238827 + CHPF2 protein_coding 54480 GO:0032580, GO:0016021, GO:0016020, GO:0000139, Golgi cisterna membrane, integral component of membrane, membrane, Golgi membrane, GO:0050510, GO:0047238, GO:0008376, N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, GO:0030206, GO:0030206, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, 827 809 978 248 476 363 330 440 373 ENSG00000033122 chr1 69568398 70151945 + LRRC7 protein_coding 57554 GO:0043194, GO:0035580, GO:0030054, GO:0016323, GO:0014069, GO:0008328, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005654, GO:0005576, axon initial segment, specific granule lumen, cell junction, basolateral plasma membrane, postsynaptic density, ionotropic glutamate receptor complex, plasma membrane, cytosol, cytosol, centrosome, nucleoplasm, extracellular region, GO:0005515, protein binding, GO:2000310, GO:0098609, GO:0097120, GO:0045197, GO:0043312, GO:0043113, GO:0010976, GO:0009790, GO:0000165, regulation of NMDA receptor activity, cell-cell adhesion, receptor localization to synapse, establishment or maintenance of epithelial cell apical/basal polarity, neutrophil degranulation, receptor clustering, positive regulation of neuron projection development, embryo development, MAPK cascade, 3 2 1 7 1 8 6 2 8 ENSG00000033170 chr14 65410592 65744121 + FUT8 protein_coding This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]. 2530 GO:0070062, GO:0032580, GO:0016021, GO:0016020, GO:0005794, GO:0000139, extracellular exosome, Golgi cisterna membrane, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, GO:0046921, GO:0017124, GO:0008424, GO:0008424, GO:0005515, alpha-(1->6)-fucosyltransferase activity, SH3 domain binding, glycoprotein 6-alpha-L-fucosyltransferase activity, glycoprotein 6-alpha-L-fucosyltransferase activity, protein binding, GO:1900407, GO:0046368, GO:0043112, GO:0042355, GO:0036071, GO:0033578, GO:0018279, GO:0016477, GO:0010468, GO:0009312, GO:0006491, GO:0006487, GO:0001701, regulation of cellular response to oxidative stress, GDP-L-fucose metabolic process, receptor metabolic process, L-fucose catabolic process, N-glycan fucosylation, protein glycosylation in Golgi, protein N-linked glycosylation via asparagine, cell migration, regulation of gene expression, oligosaccharide biosynthetic process, N-glycan processing, protein N-linked glycosylation, in utero embryonic development, 14 12 22 24 14 59 26 16 21 ENSG00000033178 chr4 67612652 67701179 - UBA6 protein_coding Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]. 55236 GO:0005829, GO:0005737, GO:0005737, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, GO:0019780, GO:0005524, GO:0005515, GO:0004839, FAT10 activating enzyme activity, ATP binding, protein binding, ubiquitin activating enzyme activity, GO:0060996, GO:0032446, GO:0021766, GO:0021764, GO:0016567, GO:0016567, GO:0016567, GO:0016567, GO:0007626, GO:0007612, GO:0006974, GO:0006511, GO:0006511, dendritic spine development, protein modification by small protein conjugation, hippocampus development, amygdala development, protein ubiquitination, protein ubiquitination, protein ubiquitination, protein ubiquitination, locomotory behavior, learning, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 467 452 902 356 447 543 431 337 414 ENSG00000033327 chr11 78215297 78418348 - GAB2 protein_coding This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]. 9846 GO:0005886, GO:0005829, GO:0005737, plasma membrane, cytosol, cytoplasm, GO:0043325, GO:0005547, GO:0005515, GO:0005068, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, transmembrane receptor protein tyrosine kinase adaptor activity, GO:0048015, GO:0043306, GO:0038095, GO:0030316, GO:0019221, GO:0008284, GO:0007411, GO:0007169, phosphatidylinositol-mediated signaling, positive regulation of mast cell degranulation, Fc-epsilon receptor signaling pathway, osteoclast differentiation, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, axon guidance, transmembrane receptor protein tyrosine kinase signaling pathway, 3609 4997 5891 1728 4111 3307 2218 3609 2749 ENSG00000033627 chr17 42458844 42522611 + ATP6V0A1 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 535 GO:0101003, GO:0070062, GO:0043231, GO:0042470, GO:0030670, GO:0030667, GO:0016607, GO:0016471, GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005765, GO:0000220, ficolin-1-rich granule membrane, extracellular exosome, intracellular membrane-bounded organelle, melanosome, phagocytic vesicle membrane, secretory granule membrane, nuclear speck, vacuolar proton-transporting V-type ATPase complex, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, lysosomal membrane, vacuolar proton-transporting V-type ATPase, V0 domain, GO:0051117, GO:0051117, GO:0046961, GO:0005515, ATPase binding, ATPase binding, proton-transporting ATPase activity, rotational mechanism, protein binding, GO:1902600, GO:0090383, GO:0043312, GO:0034220, GO:0033572, GO:0016241, GO:0008286, GO:0007035, GO:0007035, proton transmembrane transport, phagosome acidification, neutrophil degranulation, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, vacuolar acidification, vacuolar acidification, 984 1241 1254 617 1288 940 777 870 782 ENSG00000033800 chr15 68054179 68198603 + PIAS1 protein_coding This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 8554 GO:0016607, GO:0016605, GO:0005654, GO:0005634, GO:0000785, nuclear speck, PML body, nucleoplasm, nucleus, chromatin, GO:0061665, GO:0061665, GO:0031625, GO:0019904, GO:0019899, GO:0019789, GO:0008270, GO:0008022, GO:0005515, GO:0003714, GO:0003712, GO:0003677, GO:0001085, SUMO ligase activity, SUMO ligase activity, ubiquitin protein ligase binding, protein domain specific binding, enzyme binding, SUMO transferase activity, zinc ion binding, protein C-terminus binding, protein binding, transcription corepressor activity, transcription coregulator activity, DNA binding, RNA polymerase II transcription factor binding, GO:0065004, GO:0060334, GO:0051152, GO:0045893, GO:0045444, GO:0043066, GO:0042127, GO:0033235, GO:0032436, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0008542, GO:0007283, GO:0007259, GO:0006357, GO:0000122, GO:0000082, protein-DNA complex assembly, regulation of interferon-gamma-mediated signaling pathway, positive regulation of smooth muscle cell differentiation, positive regulation of transcription, DNA-templated, fat cell differentiation, negative regulation of apoptotic process, regulation of cell population proliferation, positive regulation of protein sumoylation, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, visual learning, spermatogenesis, receptor signaling pathway via JAK-STAT, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 1917 2207 2184 1298 2240 1607 1489 1718 1332 ENSG00000033867 chr3 27372721 27484420 - SLC4A7 protein_coding This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]. 9497 GO:0045202, GO:0032420, GO:0031410, GO:0016324, GO:0016323, GO:0016323, GO:0016021, GO:0016020, GO:0005886, GO:0005886, synapse, stereocilium, cytoplasmic vesicle, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0022857, GO:0008510, GO:0008510, GO:0005515, GO:0005452, transmembrane transporter activity, sodium:bicarbonate symporter activity, sodium:bicarbonate symporter activity, protein binding, inorganic anion exchanger activity, GO:0098656, GO:0060117, GO:0055085, GO:0051453, GO:0050801, GO:0035725, GO:0015701, GO:0015701, GO:0015701, GO:0015698, anion transmembrane transport, auditory receptor cell development, transmembrane transport, regulation of intracellular pH, ion homeostasis, sodium ion transmembrane transport, bicarbonate transport, bicarbonate transport, bicarbonate transport, inorganic anion transport, 92 92 198 219 69 219 203 54 183 ENSG00000034053 chr15 28884483 29118315 + APBA2 protein_coding The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]. 321 GO:0043197, GO:0008021, GO:0005886, GO:0005737, dendritic spine, synaptic vesicle, plasma membrane, cytoplasm, GO:0042802, GO:0005515, GO:0001540, identical protein binding, protein binding, amyloid-beta binding, GO:0035264, GO:0015031, GO:0010468, GO:0007626, GO:0007399, GO:0007268, GO:0001701, multicellular organism growth, protein transport, regulation of gene expression, locomotory behavior, nervous system development, chemical synaptic transmission, in utero embryonic development, 2 6 9 14 6 23 5 1 19 ENSG00000034152 chr17 21284672 21315240 + MAP2K3 protein_coding The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]. 5606 GO:0016020, GO:0005829, GO:0005654, membrane, cytosol, nucleoplasm, GO:0019901, GO:0005524, GO:0005515, GO:0004713, GO:0004708, GO:0004674, protein kinase binding, ATP binding, protein binding, protein tyrosine kinase activity, MAP kinase kinase activity, protein serine/threonine kinase activity, GO:0060048, GO:0045893, GO:0045860, GO:0043536, GO:0038066, GO:0035924, GO:0035331, GO:0018108, GO:0007165, GO:0006954, GO:0001817, GO:0000187, GO:0000187, cardiac muscle contraction, positive regulation of transcription, DNA-templated, positive regulation of protein kinase activity, positive regulation of blood vessel endothelial cell migration, p38MAPK cascade, cellular response to vascular endothelial growth factor stimulus, negative regulation of hippo signaling, peptidyl-tyrosine phosphorylation, signal transduction, inflammatory response, regulation of cytokine production, activation of MAPK activity, activation of MAPK activity, 2899 3113 5302 1334 2049 2198 1906 1862 2248 ENSG00000034239 chr8 48710789 48735311 - EFCAB1 protein_coding 79645 GO:0005509, calcium ion binding, 14 17 17 8 14 7 5 10 15 ENSG00000034510 chr2 84905625 84906675 + TMSB10 protein_coding 9168 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0005515, GO:0003785, protein binding, actin monomer binding, GO:0042989, GO:0030334, GO:0007015, sequestering of actin monomers, regulation of cell migration, actin filament organization, 931 732 1515 1714 1386 2301 1220 1078 1549 ENSG00000034533 chr3 131013875 131027649 - ASTE1 protein_coding 28990 GO:0005515, GO:0004518, protein binding, nuclease activity, GO:0090305, nucleic acid phosphodiester bond hydrolysis, 37 61 68 44 42 63 41 50 37 ENSG00000034677 chr8 100257060 100336218 - RNF19A protein_coding This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 25897 GO:0016021, GO:0005829, GO:0005813, GO:0005737, GO:0000151, integral component of membrane, cytosol, centrosome, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0046872, GO:0031624, GO:0008134, GO:0005515, ubiquitin protein ligase activity, metal ion binding, ubiquitin conjugating enzyme binding, transcription factor binding, protein binding, GO:0032436, GO:0006511, GO:0000226, GO:0000209, GO:0000209, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, microtubule cytoskeleton organization, protein polyubiquitination, protein polyubiquitination, 1433 1423 1871 934 1270 1220 1069 992 1057 ENSG00000034693 chr6 143450807 143490010 + PEX3 protein_coding The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]. 8504 GO:0032994, GO:0032991, GO:0016020, GO:0005829, GO:0005783, GO:0005779, GO:0005779, GO:0005778, GO:0005778, GO:0005777, GO:0005777, GO:0005654, protein-lipid complex, protein-containing complex, membrane, cytosol, endoplasmic reticulum, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, peroxisome, nucleoplasm, GO:0030674, GO:0008289, GO:0005515, protein-macromolecule adaptor activity, lipid binding, protein binding, GO:0055085, GO:0045046, GO:0045046, GO:0016557, GO:0007031, transmembrane transport, protein import into peroxisome membrane, protein import into peroxisome membrane, peroxisome membrane biogenesis, peroxisome organization, 14 4 20 24 11 21 23 5 6 ENSG00000034713 chr16 75566351 75577881 + GABARAPL2 protein_coding 11345 GO:0031410, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005789, GO:0005776, GO:0005776, GO:0005737, GO:0000421, GO:0000421, GO:0000421, GO:0000139, GO:0000139, cytoplasmic vesicle, cytosol, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum membrane, autophagosome, autophagosome, cytoplasm, autophagosome membrane, autophagosome membrane, autophagosome membrane, Golgi membrane, Golgi membrane, GO:0051117, GO:0050811, GO:0050811, GO:0048487, GO:0031625, GO:0031625, GO:0008017, GO:0005515, GO:0000149, ATPase binding, GABA receptor binding, GABA receptor binding, beta-tubulin binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, microtubule binding, protein binding, SNARE binding, GO:1901799, GO:0097352, GO:0070972, GO:0032781, GO:0016236, GO:0016236, GO:0015031, GO:0006995, GO:0006914, GO:0006891, GO:0000422, GO:0000045, negative regulation of proteasomal protein catabolic process, autophagosome maturation, protein localization to endoplasmic reticulum, positive regulation of ATPase activity, macroautophagy, macroautophagy, protein transport, cellular response to nitrogen starvation, autophagy, intra-Golgi vesicle-mediated transport, autophagy of mitochondrion, autophagosome assembly, 1580 1535 1850 1018 1400 1326 1571 1471 1514 ENSG00000034971 chr1 171635417 171652683 - MYOC protein_coding MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]. 4653 GO:0070062, GO:0062023, GO:0033268, GO:0031410, GO:0005929, GO:0005794, GO:0005791, GO:0005783, GO:0005758, GO:0005743, GO:0005741, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, node of Ranvier, cytoplasmic vesicle, cilium, Golgi apparatus, rough endoplasmic reticulum, endoplasmic reticulum, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial outer membrane, extracellular space, GO:0046872, GO:0032027, GO:0030971, GO:0005515, GO:0005109, GO:0001968, metal ion binding, myosin light chain binding, receptor tyrosine kinase binding, protein binding, frizzled binding, fibronectin binding, GO:1900026, GO:0060348, GO:0051901, GO:0051897, GO:0051894, GO:0051497, GO:0051496, GO:0045162, GO:0043408, GO:0038133, GO:0038031, GO:0035024, GO:0031175, GO:0030335, GO:0022011, GO:0014734, GO:0014068, GO:0001953, GO:0001649, positive regulation of substrate adhesion-dependent cell spreading, bone development, positive regulation of mitochondrial depolarization, positive regulation of protein kinase B signaling, positive regulation of focal adhesion assembly, negative regulation of stress fiber assembly, positive regulation of stress fiber assembly, clustering of voltage-gated sodium channels, regulation of MAPK cascade, ERBB2-ERBB3 signaling pathway, non-canonical Wnt signaling pathway via JNK cascade, negative regulation of Rho protein signal transduction, neuron projection development, positive regulation of cell migration, myelination in peripheral nervous system, skeletal muscle hypertrophy, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cell-matrix adhesion, osteoblast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000035115 chr2 217730 266398 - SH3YL1 protein_coding 26751 GO:0032587, GO:0032587, ruffle membrane, ruffle membrane, GO:0035091, GO:0035091, GO:0019902, GO:0005515, phosphatidylinositol binding, phosphatidylinositol binding, phosphatase binding, protein binding, GO:1900027, GO:0006661, regulation of ruffle assembly, phosphatidylinositol biosynthetic process, 54 34 59 177 29 103 153 39 27 ENSG00000035141 chr2 70295975 70302090 - FAM136A protein_coding This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. 84908 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, 34 44 54 50 39 73 73 16 52 ENSG00000035403 chr10 73995193 74121363 + VCL protein_coding Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. 7414 GO:1904813, GO:1903561, GO:0070062, GO:0044291, GO:0043034, GO:0043034, GO:0042383, GO:0035580, GO:0034774, GO:0032991, GO:0030055, GO:0005925, GO:0005925, GO:0005925, GO:0005925, GO:0005916, GO:0005912, GO:0005912, GO:0005911, GO:0005911, GO:0005856, GO:0005829, GO:0005576, GO:0002102, ficolin-1-rich granule lumen, extracellular vesicle, extracellular exosome, cell-cell contact zone, costamere, costamere, sarcolemma, specific granule lumen, secretory granule lumen, protein-containing complex, cell-substrate junction, focal adhesion, focal adhesion, focal adhesion, focal adhesion, fascia adherens, adherens junction, adherens junction, cell-cell junction, cell-cell junction, cytoskeleton, cytosol, extracellular region, podosome, GO:0045296, GO:0045296, GO:0045294, GO:0031625, GO:0008013, GO:0005515, GO:0005198, GO:0003779, GO:0003779, GO:0002162, cadherin binding, cadherin binding, alpha-catenin binding, ubiquitin protein ligase binding, beta-catenin binding, protein binding, structural molecule activity, actin binding, actin binding, dystroglycan binding, GO:1904702, GO:1903140, GO:0090136, GO:0070527, GO:0051893, GO:0048675, GO:0043312, GO:0043297, GO:0035633, GO:0034394, GO:0034333, GO:0030336, GO:0030032, GO:0007160, GO:0007155, GO:0006936, GO:0002576, GO:0002009, regulation of protein localization to adherens junction, regulation of establishment of endothelial barrier, epithelial cell-cell adhesion, platelet aggregation, regulation of focal adhesion assembly, axon extension, neutrophil degranulation, apical junction assembly, maintenance of blood-brain barrier, protein localization to cell surface, adherens junction assembly, negative regulation of cell migration, lamellipodium assembly, cell-matrix adhesion, cell adhesion, muscle contraction, platelet degranulation, morphogenesis of an epithelium, 673 965 1110 467 826 706 520 581 628 ENSG00000035499 chr5 60596912 60700190 - DEPDC1B protein_coding 55789 GO:0005829, cytosol, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0035556, GO:0030177, GO:0030177, GO:0016477, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, intracellular signal transduction, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, cell migration, 1 0 0 5 0 5 4 0 0 ENSG00000035664 chr15 63907036 64072033 - DAPK2 protein_coding This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]. 23604 GO:0043231, GO:0034423, GO:0031410, GO:0005794, GO:0005737, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, autophagosome lumen, cytoplasmic vesicle, Golgi apparatus, cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0042802, GO:0005524, GO:0005516, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, identical protein binding, ATP binding, calmodulin binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2001242, GO:2000424, GO:0090023, GO:0046777, GO:0043276, GO:0043065, GO:0042981, GO:0035556, GO:0035556, GO:0010506, GO:0006915, GO:0006468, regulation of intrinsic apoptotic signaling pathway, positive regulation of eosinophil chemotaxis, positive regulation of neutrophil chemotaxis, protein autophosphorylation, anoikis, positive regulation of apoptotic process, regulation of apoptotic process, intracellular signal transduction, intracellular signal transduction, regulation of autophagy, apoptotic process, protein phosphorylation, 1418 1534 1974 920 1740 1626 1188 1215 1410 ENSG00000035681 chr8 58583504 58659844 - NSMAF protein_coding This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]. 8439 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005515, protein binding, GO:2000304, GO:0043085, GO:0007165, GO:0006672, positive regulation of ceramide biosynthetic process, positive regulation of catalytic activity, signal transduction, ceramide metabolic process, 936 1648 1424 7792 10043 12369 9023 8708 9053 ENSG00000035687 chr1 244408494 244452134 - ADSS protein_coding This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]. 159 GO:0070062, GO:0005886, GO:0005829, GO:0005829, GO:0005739, GO:0005737, extracellular exosome, plasma membrane, cytosol, cytosol, mitochondrion, cytoplasm, GO:0042301, GO:0005525, GO:0005515, GO:0004019, GO:0004019, GO:0004019, GO:0000287, phosphate ion binding, GTP binding, protein binding, adenylosuccinate synthase activity, adenylosuccinate synthase activity, adenylosuccinate synthase activity, magnesium ion binding, GO:0071257, GO:0060359, GO:0046040, GO:0044208, GO:0044208, GO:0014074, GO:0009168, GO:0006531, GO:0006167, GO:0006167, GO:0002376, cellular response to electrical stimulus, response to ammonium ion, IMP metabolic process, 'de novo' AMP biosynthetic process, 'de novo' AMP biosynthetic process, response to purine-containing compound, purine ribonucleoside monophosphate biosynthetic process, aspartate metabolic process, AMP biosynthetic process, AMP biosynthetic process, immune system process, 247 257 405 203 249 349 253 219 286 ENSG00000035720 chr4 67558728 67607337 + STAP1 protein_coding The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 26228 GO:0043231, GO:0032991, GO:0005739, GO:0005737, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, protein-containing complex, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0035591, GO:0019901, GO:0005543, GO:0005515, GO:0005157, GO:0005068, GO:0001784, signaling adaptor activity, protein kinase binding, phospholipid binding, protein binding, macrophage colony-stimulating factor receptor binding, transmembrane receptor protein tyrosine kinase adaptor activity, phosphotyrosine residue binding, GO:2000251, GO:1904151, GO:1904140, GO:1903997, GO:1903980, GO:1902227, GO:1900028, GO:0071222, GO:0060100, GO:0050861, GO:0042326, GO:0010760, GO:0010628, GO:0007169, positive regulation of actin cytoskeleton reorganization, positive regulation of microglial cell mediated cytotoxicity, negative regulation of microglial cell migration, positive regulation of non-membrane spanning protein tyrosine kinase activity, positive regulation of microglial cell activation, negative regulation of macrophage colony-stimulating factor signaling pathway, negative regulation of ruffle assembly, cellular response to lipopolysaccharide, positive regulation of phagocytosis, engulfment, positive regulation of B cell receptor signaling pathway, negative regulation of phosphorylation, negative regulation of macrophage chemotaxis, positive regulation of gene expression, transmembrane receptor protein tyrosine kinase signaling pathway, 7 11 6 7 11 14 8 9 0 ENSG00000035862 chr17 78852977 78925387 - TIMP2 protein_coding This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]. 7077 GO:1904813, GO:1904724, GO:0062023, GO:0043025, GO:0035580, GO:0031012, GO:0030426, GO:0009986, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, collagen-containing extracellular matrix, neuronal cell body, specific granule lumen, extracellular matrix, growth cone, cell surface, extracellular space, extracellular region, GO:0030414, GO:0008270, GO:0008191, GO:0005515, GO:0005178, GO:0002020, GO:0002020, peptidase inhibitor activity, zinc ion binding, metalloendopeptidase inhibitor activity, protein binding, integrin binding, protease binding, protease binding, GO:1905049, GO:0051045, GO:0046580, GO:0045930, GO:0045762, GO:0045666, GO:0043410, GO:0043312, GO:0042493, GO:0034097, GO:0032487, GO:0022617, GO:0010951, GO:0010033, GO:0009725, GO:0008285, GO:0007568, GO:0007417, negative regulation of metallopeptidase activity, negative regulation of membrane protein ectodomain proteolysis, negative regulation of Ras protein signal transduction, negative regulation of mitotic cell cycle, positive regulation of adenylate cyclase activity, positive regulation of neuron differentiation, positive regulation of MAPK cascade, neutrophil degranulation, response to drug, response to cytokine, regulation of Rap protein signal transduction, extracellular matrix disassembly, negative regulation of endopeptidase activity, response to organic substance, response to hormone, negative regulation of cell population proliferation, aging, central nervous system development, 2125 2152 2483 731 1627 1228 892 1300 1094 ENSG00000035928 chr4 39287456 39366375 - RFC1 protein_coding This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]. 5981 GO:0070062, GO:0031391, GO:0005737, GO:0005730, GO:0005663, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, Elg1 RFC-like complex, cytoplasm, nucleolus, DNA replication factor C complex, nucleoplasm, nucleoplasm, nucleus, GO:0061860, GO:0061860, GO:0043565, GO:0019904, GO:0008047, GO:0005524, GO:0005515, GO:0003690, GO:0003689, GO:0003677, DNA clamp unloader activity, DNA clamp unloader activity, sequence-specific DNA binding, protein domain specific binding, enzyme activator activity, ATP binding, protein binding, double-stranded DNA binding, DNA clamp loader activity, DNA binding, GO:0090618, GO:0070987, GO:0045893, GO:0043085, GO:0042769, GO:0042276, GO:0033683, GO:0032201, GO:0019985, GO:0007004, GO:0006297, GO:0006296, GO:0006283, GO:0006261, GO:0000122, DNA clamp unloading, error-free translesion synthesis, positive regulation of transcription, DNA-templated, positive regulation of catalytic activity, DNA damage response, detection of DNA damage, error-prone translesion synthesis, nucleotide-excision repair, DNA incision, telomere maintenance via semi-conservative replication, translesion synthesis, telomere maintenance via telomerase, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA-dependent DNA replication, negative regulation of transcription by RNA polymerase II, 153 122 241 158 97 187 164 106 132 ENSG00000036054 chr3 100261000 100325251 + TBC1D23 protein_coding 55773 GO:0071203, GO:0071203, GO:0031410, GO:0005829, GO:0005802, GO:0005802, GO:0005794, WASH complex, WASH complex, cytoplasmic vesicle, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, GO:0005515, protein binding, GO:1990403, GO:1990403, GO:0099041, GO:0099041, GO:0050727, GO:0042147, GO:0042147, GO:0032755, GO:0032680, GO:0031175, GO:0016192, GO:0007420, embryonic brain development, embryonic brain development, vesicle tethering to Golgi, vesicle tethering to Golgi, regulation of inflammatory response, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, positive regulation of interleukin-6 production, regulation of tumor necrosis factor production, neuron projection development, vesicle-mediated transport, brain development, 1111 931 1394 575 710 715 666 503 411 ENSG00000036257 chr2 224470150 224585397 - CUL3 protein_coding This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. 8452 GO:0072686, GO:0070062, GO:0036126, GO:0031463, GO:0031461, GO:0016020, GO:0005886, GO:0005829, GO:0005827, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0000922, GO:0000139, mitotic spindle, extracellular exosome, sperm flagellum, Cul3-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, membrane, plasma membrane, cytosol, polar microtubule, centrosome, cytoplasm, nucleoplasm, nucleus, spindle pole, Golgi membrane, GO:0061630, GO:0031625, GO:0031625, GO:0031208, GO:0030332, GO:0005515, GO:0005112, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase binding, ubiquitin protein ligase binding, POZ domain binding, cyclin binding, protein binding, Notch binding, ubiquitin-protein transferase activity, GO:1901992, GO:0097193, GO:0090090, GO:0072576, GO:0071630, GO:0051865, GO:0048208, GO:0045842, GO:0044346, GO:0043687, GO:0043161, GO:0043149, GO:0040016, GO:0035024, GO:0032467, GO:0031648, GO:0031398, GO:0031145, GO:0030030, GO:0017145, GO:0016567, GO:0016567, GO:0016477, GO:0016055, GO:0008284, GO:0007369, GO:0007229, GO:0007080, GO:0006888, GO:0006513, GO:0006511, GO:0001831, GO:0000209, GO:0000165, GO:0000122, GO:0000082, positive regulation of mitotic cell cycle phase transition, intrinsic apoptotic signaling pathway, negative regulation of canonical Wnt signaling pathway, liver morphogenesis, nuclear protein quality control by the ubiquitin-proteasome system, protein autoubiquitination, COPII vesicle coating, positive regulation of mitotic metaphase/anaphase transition, fibroblast apoptotic process, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, stress fiber assembly, embryonic cleavage, negative regulation of Rho protein signal transduction, positive regulation of cytokinesis, protein destabilization, positive regulation of protein ubiquitination, anaphase-promoting complex-dependent catabolic process, cell projection organization, stem cell division, protein ubiquitination, protein ubiquitination, cell migration, Wnt signaling pathway, positive regulation of cell population proliferation, gastrulation, integrin-mediated signaling pathway, mitotic metaphase plate congression, endoplasmic reticulum to Golgi vesicle-mediated transport, protein monoubiquitination, ubiquitin-dependent protein catabolic process, trophectodermal cellular morphogenesis, protein polyubiquitination, MAPK cascade, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 1962 1558 2159 1102 1678 1377 994 1184 1044 ENSG00000036448 chr8 2045040 2165552 + MYOM2 protein_coding The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]. 9172 GO:0032982, GO:0031430, GO:0005739, myosin filament, M band, mitochondrion, GO:0051015, GO:0019900, GO:0008307, GO:0005515, actin filament binding, kinase binding, structural constituent of muscle, protein binding, GO:0006936, GO:0002074, muscle contraction, extraocular skeletal muscle development, 0 0 0 3 8 4 7 0 1 ENSG00000036473 chrX 38352545 38421450 + OTC protein_coding This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]. 5009 GO:0043231, GO:0005759, GO:0005759, GO:0005743, GO:0005739, GO:0005739, intracellular membrane-bounded organelle, mitochondrial matrix, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0042802, GO:0042301, GO:0016597, GO:0005543, GO:0004585, GO:0004585, identical protein binding, phosphate ion binding, amino acid binding, phospholipid binding, ornithine carbamoyltransferase activity, ornithine carbamoyltransferase activity, GO:0097272, GO:0070781, GO:0055081, GO:0042493, GO:0042450, GO:0032868, GO:0019240, GO:0019240, GO:0010043, GO:0007494, GO:0006593, GO:0001889, GO:0000050, GO:0000050, GO:0000050, ammonium homeostasis, response to biotin, anion homeostasis, response to drug, arginine biosynthetic process via ornithine, response to insulin, citrulline biosynthetic process, citrulline biosynthetic process, response to zinc ion, midgut development, ornithine catabolic process, liver development, urea cycle, urea cycle, urea cycle, 0 0 0 0 0 0 0 0 0 ENSG00000036530 chr14 99684304 99727301 + CYP46A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]. 10858 GO:0098794, GO:0098793, GO:0030425, GO:0016021, GO:0005789, GO:0005783, postsynapse, presynapse, dendrite, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0033781, GO:0033781, GO:0033781, GO:0020037, GO:0020037, GO:0008395, GO:0005506, cholesterol 24-hydroxylase activity, cholesterol 24-hydroxylase activity, cholesterol 24-hydroxylase activity, heme binding, heme binding, steroid hydroxylase activity, iron ion binding, GO:1903044, GO:1900271, GO:0055114, GO:0042448, GO:0016125, GO:0007399, GO:0006805, GO:0006707, GO:0006707, GO:0006707, GO:0006707, GO:0006699, protein localization to membrane raft, regulation of long-term synaptic potentiation, oxidation-reduction process, progesterone metabolic process, sterol metabolic process, nervous system development, xenobiotic metabolic process, cholesterol catabolic process, cholesterol catabolic process, cholesterol catabolic process, cholesterol catabolic process, bile acid biosynthetic process, 1 0 0 6 2 1 2 0 0 ENSG00000036549 chr1 77562416 77683419 - AC118549.1 protein_coding 26009 GO:0005730, GO:0005671, GO:0005654, nucleolus, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:0043967, histone H4 acetylation, 45 49 71 95 63 144 104 64 91 ENSG00000036565 chr8 20144855 20183206 - SLC18A1 protein_coding The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]. 6570 GO:0070083, GO:0043195, GO:0030672, GO:0016021, GO:0005789, clathrin-sculpted monoamine transport vesicle membrane, terminal bouton, synaptic vesicle membrane, integral component of membrane, endoplasmic reticulum membrane, GO:0042910, GO:0022857, GO:0008504, GO:0005335, xenobiotic transmembrane transporter activity, transmembrane transporter activity, monoamine transmembrane transporter activity, serotonin:sodium symporter activity, GO:0055085, GO:0051610, GO:0042908, GO:0015844, GO:0015842, transmembrane transport, serotonin uptake, xenobiotic transport, monoamine transport, aminergic neurotransmitter loading into synaptic vesicle, 2 1 2 5 0 0 8 0 0 ENSG00000036672 chr11 119355215 119381726 - USP2 protein_coding This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 9099 GO:0048471, GO:0016020, GO:0005813, GO:0005737, GO:0005654, perinuclear region of cytoplasm, membrane, centrosome, cytoplasm, nucleoplasm, GO:0046872, GO:0042802, GO:0031625, GO:0030332, GO:0005515, GO:0004843, GO:0004843, GO:0004197, metal ion binding, identical protein binding, ubiquitin protein ligase binding, cyclin binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0050821, GO:0050821, GO:0048512, GO:0045931, GO:0045475, GO:0043153, GO:0032922, GO:0016579, GO:0016579, GO:0007517, GO:0007049, GO:0006511, GO:0000122, protein stabilization, protein stabilization, circadian behavior, positive regulation of mitotic cell cycle, locomotor rhythm, entrainment of circadian clock by photoperiod, circadian regulation of gene expression, protein deubiquitination, protein deubiquitination, muscle organ development, cell cycle, ubiquitin-dependent protein catabolic process, negative regulation of transcription by RNA polymerase II, 2 1 0 5 1 5 0 0 4 ENSG00000036828 chr3 122183683 122291629 + CASR protein_coding The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]. 846 GO:0043679, GO:0043025, GO:0016324, GO:0016323, GO:0009986, GO:0005887, GO:0005887, GO:0005886, GO:0005737, axon terminus, neuronal cell body, apical plasma membrane, basolateral plasma membrane, cell surface, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0044325, GO:0042803, GO:0019901, GO:0016597, GO:0005515, GO:0005509, GO:0005509, GO:0005178, GO:0004930, GO:0004930, GO:0004435, ion channel binding, protein homodimerization activity, protein kinase binding, amino acid binding, protein binding, calcium ion binding, calcium ion binding, integrin binding, G protein-coupled receptor activity, G protein-coupled receptor activity, phosphatidylinositol phospholipase C activity, GO:1902476, GO:1901653, GO:0090280, GO:0071774, GO:0071456, GO:0071404, GO:0071333, GO:0071305, GO:0070509, GO:0070374, GO:0060613, GO:0051924, GO:0050927, GO:0048754, GO:0045907, GO:0042311, GO:0035729, GO:0032782, GO:0032781, GO:0032024, GO:0010628, GO:0009653, GO:0008284, GO:0007635, GO:0007254, GO:0007200, GO:0007193, GO:0007186, GO:0007186, GO:0007186, GO:0006915, GO:0006874, GO:0006874, GO:0005513, GO:0005513, GO:0002931, GO:0001503, chloride transmembrane transport, cellular response to peptide, positive regulation of calcium ion import, response to fibroblast growth factor, cellular response to hypoxia, cellular response to low-density lipoprotein particle stimulus, cellular response to glucose stimulus, cellular response to vitamin D, calcium ion import, positive regulation of ERK1 and ERK2 cascade, fat pad development, regulation of calcium ion transport, positive regulation of positive chemotaxis, branching morphogenesis of an epithelial tube, positive regulation of vasoconstriction, vasodilation, cellular response to hepatocyte growth factor stimulus, bile acid secretion, positive regulation of ATPase activity, positive regulation of insulin secretion, positive regulation of gene expression, anatomical structure morphogenesis, positive regulation of cell population proliferation, chemosensory behavior, JNK cascade, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, apoptotic process, cellular calcium ion homeostasis, cellular calcium ion homeostasis, detection of calcium ion, detection of calcium ion, response to ischemia, ossification, 3 0 4 0 2 0 0 1 0 ENSG00000037042 chr17 42659305 42667006 + TUBG2 protein_coding 27175 GO:0015630, GO:0005881, GO:0005876, GO:0005874, GO:0005874, GO:0005829, GO:0005819, GO:0005813, GO:0005737, GO:0005634, GO:0000930, GO:0000242, microtubule cytoskeleton, cytoplasmic microtubule, spindle microtubule, microtubule, microtubule, cytosol, spindle, centrosome, cytoplasm, nucleus, gamma-tubulin complex, pericentriolar material, GO:0005525, GO:0005200, GO:0005198, GO:0003924, GTP binding, structural constituent of cytoskeleton, structural molecule activity, GTPase activity, GO:0031122, GO:0007052, GO:0007020, GO:0000278, GO:0000226, GO:0000212, GO:0000070, cytoplasmic microtubule organization, mitotic spindle organization, microtubule nucleation, mitotic cell cycle, microtubule cytoskeleton organization, meiotic spindle organization, mitotic sister chromatid segregation, 3 0 11 11 2 8 16 2 8 ENSG00000037241 chr5 172958729 172969771 + RPL26L1 protein_coding This gene encodes a protein that shares high sequence similarity with ribosomal protein L26. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Dec 2015]. 51121 GO:0070062, GO:0022625, extracellular exosome, cytosolic large ribosomal subunit, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0042273, GO:0002181, ribosomal large subunit biogenesis, cytoplasmic translation, 50 32 28 33 75 35 31 54 43 ENSG00000037280 chr5 180601506 180649624 - FLT4 protein_coding This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]. 2324 GO:0043235, GO:0043235, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005654, GO:0005576, receptor complex, receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleoplasm, extracellular region, GO:0042803, GO:0019903, GO:0019838, GO:0005524, GO:0005515, GO:0005021, GO:0005021, GO:0004714, GO:0004714, protein homodimerization activity, protein phosphatase binding, growth factor binding, ATP binding, protein binding, vascular endothelial growth factor-activated receptor activity, vascular endothelial growth factor-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, GO:0090037, GO:0070374, GO:0060312, GO:0048514, GO:0048286, GO:0048010, GO:0048010, GO:0048010, GO:0048010, GO:0046777, GO:0046330, GO:0043410, GO:0043066, GO:0038084, GO:0035924, GO:0035924, GO:0033674, GO:0018108, GO:0010595, GO:0010575, GO:0008284, GO:0008284, GO:0007275, GO:0007169, GO:0003016, GO:0002244, GO:0002040, GO:0001946, GO:0001946, GO:0001945, GO:0001944, GO:0001938, GO:0001934, positive regulation of protein kinase C signaling, positive regulation of ERK1 and ERK2 cascade, regulation of blood vessel remodeling, blood vessel morphogenesis, lung alveolus development, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, positive regulation of JNK cascade, positive regulation of MAPK cascade, negative regulation of apoptotic process, vascular endothelial growth factor signaling pathway, cellular response to vascular endothelial growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, positive regulation of kinase activity, peptidyl-tyrosine phosphorylation, positive regulation of endothelial cell migration, positive regulation of vascular endothelial growth factor production, positive regulation of cell population proliferation, positive regulation of cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, respiratory system process, hematopoietic progenitor cell differentiation, sprouting angiogenesis, lymphangiogenesis, lymphangiogenesis, lymph vessel development, vasculature development, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, 8 10 14 19 2 13 4 13 10 ENSG00000037474 chr5 6599239 6633291 - NSUN2 protein_coding This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]. 54888 GO:0070062, GO:0033391, GO:0005819, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, chromatoid body, spindle, mitochondrion, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0062152, GO:0016428, GO:0016428, GO:0016428, GO:0008168, GO:0003723, GO:0000049, mRNA (cytidine-5-)-methyltransferase activity, tRNA (cytosine-5-)-methyltransferase activity, tRNA (cytosine-5-)-methyltransferase activity, tRNA (cytosine-5-)-methyltransferase activity, methyltransferase activity, RNA binding, tRNA binding, GO:2000736, GO:0080009, GO:0051301, GO:0048820, GO:0036416, GO:0033313, GO:0030488, GO:0030488, GO:0010793, GO:0007286, GO:0006400, GO:0001510, regulation of stem cell differentiation, mRNA methylation, cell division, hair follicle maturation, tRNA stabilization, meiotic cell cycle checkpoint, tRNA methylation, tRNA methylation, regulation of mRNA export from nucleus, spermatid development, tRNA modification, RNA methylation, 121 198 242 286 264 279 257 178 218 ENSG00000037637 chr1 16246839 16352454 - FBXO42 protein_coding Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]. 54455 GO:0005515, protein binding, 374 436 444 225 464 323 303 320 283 ENSG00000037749 chr5 154038906 154220478 + MFAP3 protein_coding 4238 GO:0016021, GO:0005886, GO:0005737, GO:0005634, GO:0005576, integral component of membrane, plasma membrane, cytoplasm, nucleus, extracellular region, GO:0005515, protein binding, 151 135 215 53 106 76 82 78 72 ENSG00000037757 chr19 13764532 13774282 + MRI1 protein_coding This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]. 84245 GO:0042995, GO:0005829, GO:0005829, GO:0005654, GO:0001650, cell projection, cytosol, cytosol, nucleoplasm, fibrillar center, GO:0046523, GO:0046523, GO:0042802, GO:0005515, S-methyl-5-thioribose-1-phosphate isomerase activity, S-methyl-5-thioribose-1-phosphate isomerase activity, identical protein binding, protein binding, GO:0019509, GO:0019509, GO:0019509, GO:0019284, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from S-adenosylmethionine, 27 35 36 88 57 120 60 34 49 ENSG00000037897 chr12 57768471 57772793 - METTL1 protein_coding This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]. 4234 GO:0043527, GO:0005829, GO:0005730, GO:0005654, GO:0005634, tRNA methyltransferase complex, cytosol, nucleolus, nucleoplasm, nucleus, GO:0008176, GO:0008176, GO:0005515, GO:0000049, tRNA (guanine-N7-)-methyltransferase activity, tRNA (guanine-N7-)-methyltransferase activity, protein binding, tRNA binding, GO:0106004, GO:0036265, GO:0030488, GO:0006400, tRNA (guanine-N7)-methylation, RNA (guanine-N7)-methylation, tRNA methylation, tRNA modification, 4 0 5 8 1 7 12 2 8 ENSG00000037965 chr12 54009106 54012362 + HOXC8 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]. 3224 GO:0015630, GO:0005654, GO:0005634, GO:0000785, microtubule cytoskeleton, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048705, GO:0030182, GO:0009952, GO:0006357, GO:0000122, skeletal system morphogenesis, neuron differentiation, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000038002 chr4 177430770 177442503 - AGA protein_coding This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]. 175 GO:0035578, GO:0005783, GO:0005764, GO:0005764, GO:0005737, GO:0005615, GO:0005576, azurophil granule lumen, endoplasmic reticulum, lysosome, lysosome, cytoplasm, extracellular space, extracellular region, GO:0043621, GO:0008233, GO:0005515, GO:0003948, GO:0003948, GO:0003948, protein self-association, peptidase activity, protein binding, N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity, N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity, N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity, GO:0043312, GO:0006517, GO:0006517, GO:0006517, GO:0006508, neutrophil degranulation, protein deglycosylation, protein deglycosylation, protein deglycosylation, proteolysis, 38 4 45 41 25 44 23 9 53 ENSG00000038210 chr4 25233975 25279092 + PI4K2B protein_coding This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]. 55300 GO:0016020, GO:0005886, GO:0005829, GO:0005802, GO:0005768, membrane, plasma membrane, cytosol, trans-Golgi network, endosome, GO:0005524, GO:0004430, ATP binding, 1-phosphatidylinositol 4-kinase activity, GO:0046854, GO:0007032, GO:0007030, GO:0006661, phosphatidylinositol phosphorylation, endosome organization, Golgi organization, phosphatidylinositol biosynthetic process, 29 23 32 47 18 46 36 9 27 ENSG00000038219 chr4 13568738 13627723 - BOD1L1 protein_coding 259282 GO:0005876, GO:0005813, GO:0005654, GO:0000940, GO:0000922, spindle microtubule, centrosome, nucleoplasm, condensed chromosome outer kinetochore, spindle pole, GO:0051721, GO:0005515, GO:0004864, protein phosphatase 2A binding, protein binding, protein phosphatase inhibitor activity, GO:0032515, GO:0031297, GO:0006974, GO:0006281, negative regulation of phosphoprotein phosphatase activity, replication fork processing, cellular response to DNA damage stimulus, DNA repair, 9894 10610 11468 3670 6278 5338 5436 5045 4647 ENSG00000038274 chr5 163503114 163519336 + MAT2B protein_coding The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]. 27430 GO:0070062, GO:0048269, GO:0048269, GO:0005829, GO:0005634, GO:0005634, extracellular exosome, methionine adenosyltransferase complex, methionine adenosyltransferase complex, cytosol, nucleus, nucleus, GO:0048270, GO:0048270, GO:0019899, GO:0005515, methionine adenosyltransferase regulator activity, methionine adenosyltransferase regulator activity, enzyme binding, protein binding, GO:0050790, GO:0032259, GO:0006730, GO:0006556, GO:0006556, GO:0006556, regulation of catalytic activity, methylation, one-carbon metabolic process, S-adenosylmethionine biosynthetic process, S-adenosylmethionine biosynthetic process, S-adenosylmethionine biosynthetic process, 1437 1301 1535 426 581 475 460 575 506 ENSG00000038295 chr4 165873258 166103895 + TLL1 protein_coding This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 7092 GO:0005576, extracellular region, GO:0008270, GO:0005509, GO:0004222, zinc ion binding, calcium ion binding, metalloendopeptidase activity, GO:0030154, GO:0022617, GO:0006508, GO:0001501, cell differentiation, extracellular matrix disassembly, proteolysis, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000038358 chr16 67873023 67884503 + EDC4 protein_coding 23644 GO:0036464, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000932, GO:0000932, cytoplasmic ribonucleoprotein granule, membrane, cytosol, cytoplasm, nucleoplasm, nucleus, P-body, P-body, GO:0005515, protein binding, GO:0043928, GO:0031087, GO:0008150, exonucleolytic catabolism of deadenylated mRNA, deadenylation-independent decapping of nuclear-transcribed mRNA, biological_process, 320 283 356 337 361 342 344 249 305 ENSG00000038382 chr5 14143702 14532128 + TRIO protein_coding This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 7204 GO:0042995, GO:0005829, cell projection, cytosol, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0005085, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, guanyl-nucleotide exchange factor activity, protein serine/threonine kinase activity, GO:0051056, GO:0048812, GO:0045599, GO:0043065, GO:0007417, GO:0007411, GO:0007186, GO:0007185, GO:0006468, regulation of small GTPase mediated signal transduction, neuron projection morphogenesis, negative regulation of fat cell differentiation, positive regulation of apoptotic process, central nervous system development, axon guidance, G protein-coupled receptor signaling pathway, transmembrane receptor protein tyrosine phosphatase signaling pathway, protein phosphorylation, 36 64 69 47 50 60 53 37 29 ENSG00000038427 chr5 83471465 83582303 + VCAN protein_coding This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. 1462 GO:0062023, GO:0062023, GO:0062023, GO:0043202, GO:0033165, GO:0031012, GO:0016020, GO:0005796, GO:0005788, GO:0005615, GO:0005576, GO:0005576, GO:0001750, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, interphotoreceptor matrix, extracellular matrix, membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, extracellular region, photoreceptor outer segment, GO:0030246, GO:0030021, GO:0030021, GO:0005540, GO:0005539, GO:0005515, GO:0005509, carbohydrate binding, extracellular matrix structural constituent conferring compression resistance, extracellular matrix structural constituent conferring compression resistance, hyaluronic acid binding, glycosaminoglycan binding, protein binding, calcium ion binding, GO:0044267, GO:0043687, GO:0030208, GO:0030207, GO:0030206, GO:0030198, GO:0008037, GO:0007417, GO:0007275, GO:0007155, GO:0001649, GO:0001501, cellular protein metabolic process, post-translational protein modification, dermatan sulfate biosynthetic process, chondroitin sulfate catabolic process, chondroitin sulfate biosynthetic process, extracellular matrix organization, cell recognition, central nervous system development, multicellular organism development, cell adhesion, osteoblast differentiation, skeletal system development, 101 216 379 137 341 423 170 174 300 ENSG00000038532 chr16 10944488 11182189 + CLEC16A protein_coding This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 23274 GO:0036020, GO:0031982, GO:0016021, GO:0005829, GO:0005794, GO:0005770, endolysosome membrane, vesicle, integral component of membrane, cytosol, Golgi apparatus, late endosome, GO:0031267, GO:0003674, small GTPase binding, molecular_function, GO:1904766, GO:1904263, GO:1901525, GO:1901098, GO:1901097, GO:1901096, GO:0032435, GO:0016197, GO:0009267, GO:0008333, GO:0006914, negative regulation of macroautophagy by TORC1 signaling, positive regulation of TORC1 signaling, negative regulation of mitophagy, positive regulation of autophagosome maturation, negative regulation of autophagosome maturation, regulation of autophagosome maturation, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, endosomal transport, cellular response to starvation, endosome to lysosome transport, autophagy, 275 342 323 247 299 246 203 251 220 ENSG00000038945 chr8 16107878 16567490 - MSR1 protein_coding This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]. 4481 GO:0034362, GO:0030666, GO:0016021, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005581, low-density lipoprotein particle, endocytic vesicle membrane, integral component of membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, collagen trimer, GO:0038024, GO:0030169, GO:0030169, GO:0005515, GO:0005044, GO:0001540, GO:0001540, cargo receptor activity, low-density lipoprotein particle binding, low-density lipoprotein particle binding, protein binding, scavenger receptor activity, amyloid-beta binding, amyloid-beta binding, GO:0097242, GO:0097242, GO:0034381, GO:0034381, GO:0030301, GO:0010886, GO:0010886, GO:0010744, GO:0010629, GO:0006911, GO:0006898, GO:0006898, GO:0006898, amyloid-beta clearance, amyloid-beta clearance, plasma lipoprotein particle clearance, plasma lipoprotein particle clearance, cholesterol transport, positive regulation of cholesterol storage, positive regulation of cholesterol storage, positive regulation of macrophage derived foam cell differentiation, negative regulation of gene expression, phagocytosis, engulfment, receptor-mediated endocytosis, receptor-mediated endocytosis, receptor-mediated endocytosis, 1 4 5 17 8 17 15 11 1 ENSG00000039068 chr16 68737225 68835548 + CDH1 protein_coding This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]. 999 GO:0098978, GO:0098794, GO:0070062, GO:0048471, GO:0043296, GO:0043296, GO:0030864, GO:0030054, GO:0030054, GO:0030027, GO:0016600, GO:0016600, GO:0016342, GO:0016342, GO:0016328, GO:0016021, GO:0015629, GO:0009898, GO:0005912, GO:0005886, GO:0005886, GO:0005802, GO:0005768, GO:0005737, GO:0005576, glutamatergic synapse, postsynapse, extracellular exosome, perinuclear region of cytoplasm, apical junction complex, apical junction complex, cortical actin cytoskeleton, cell junction, cell junction, lamellipodium, flotillin complex, flotillin complex, catenin complex, catenin complex, lateral plasma membrane, integral component of membrane, actin cytoskeleton, cytoplasmic side of plasma membrane, adherens junction, plasma membrane, plasma membrane, trans-Golgi network, endosome, cytoplasm, extracellular region, GO:0050839, GO:0050839, GO:0045296, GO:0045296, GO:0045295, GO:0042802, GO:0032794, GO:0030506, GO:0008013, GO:0005515, GO:0005509, cell adhesion molecule binding, cell adhesion molecule binding, cadherin binding, cadherin binding, gamma-catenin binding, identical protein binding, GTPase activating protein binding, ankyrin binding, beta-catenin binding, protein binding, calcium ion binding, GO:0099576, GO:0098742, GO:0098609, GO:0072659, GO:0072659, GO:0071681, GO:0071285, GO:0045893, GO:0042493, GO:0042307, GO:0035635, GO:0034332, GO:0034332, GO:0031175, GO:0030336, GO:0030198, GO:0022408, GO:0021983, GO:0010468, GO:0009636, GO:0007416, GO:0007156, regulation of protein catabolic process at postsynapse, modulating synaptic transmission, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, protein localization to plasma membrane, protein localization to plasma membrane, cellular response to indole-3-methanol, cellular response to lithium ion, positive regulation of transcription, DNA-templated, response to drug, positive regulation of protein import into nucleus, entry of bacterium into host cell, adherens junction organization, adherens junction organization, neuron projection development, negative regulation of cell migration, extracellular matrix organization, negative regulation of cell-cell adhesion, pituitary gland development, regulation of gene expression, response to toxic substance, synapse assembly, homophilic cell adhesion via plasma membrane adhesion molecules, 0 2 0 0 1 2 0 0 0 ENSG00000039123 chr5 55307760 55425581 + MTREX protein_coding 23517 GO:0071013, GO:0031499, GO:0016607, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000178, GO:0000176, catalytic step 2 spliceosome, TRAMP complex, nuclear speck, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, exosome (RNase complex), nuclear exosome (RNase complex), GO:0005524, GO:0005515, GO:0003724, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA helicase activity, RNA binding, GO:0016076, GO:0006401, GO:0006401, GO:0006364, GO:0006364, GO:0000460, GO:0000460, GO:0000398, GO:0000398, snRNA catabolic process, RNA catabolic process, RNA catabolic process, rRNA processing, rRNA processing, maturation of 5.8S rRNA, maturation of 5.8S rRNA, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 198 192 273 230 154 212 194 137 147 ENSG00000039139 chr5 13690331 13944543 - DNAH5 protein_coding This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]. 1767 GO:0097729, GO:0036157, GO:0036157, GO:0036157, GO:0031514, GO:0030286, GO:0005930, GO:0005874, GO:0005737, 9+2 motile cilium, outer dynein arm, outer dynein arm, outer dynein arm, motile cilium, dynein complex, axoneme, microtubule, cytoplasm, GO:0051959, GO:0045505, GO:0008569, GO:0005524, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, GO:0060271, GO:0036158, GO:0036158, GO:0030317, GO:0021670, GO:0007507, GO:0007368, GO:0007018, GO:0003341, cilium assembly, outer dynein arm assembly, outer dynein arm assembly, flagellated sperm motility, lateral ventricle development, heart development, determination of left/right symmetry, microtubule-based movement, cilium movement, 0 0 0 0 0 0 0 0 0 ENSG00000039319 chr5 80408013 80479350 + ZFYVE16 protein_coding This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 9765 GO:0043231, GO:0031901, GO:0031901, GO:0005829, GO:0005769, intracellular membrane-bounded organelle, early endosome membrane, early endosome membrane, cytosol, early endosome, GO:0046872, GO:0005547, GO:0005545, GO:0005515, metal ion binding, phosphatidylinositol-3,4,5-trisphosphate binding, 1-phosphatidylinositol binding, protein binding, GO:0030509, GO:0030100, GO:0016197, GO:0016197, GO:0016050, GO:0007165, GO:0006622, GO:0006622, BMP signaling pathway, regulation of endocytosis, endosomal transport, endosomal transport, vesicle organization, signal transduction, protein targeting to lysosome, protein targeting to lysosome, 2008 2035 1999 1360 2066 1871 1583 1595 1624 ENSG00000039523 chr16 67518418 67546788 + RIPOR1 protein_coding 79567 GO:0070062, GO:0016020, GO:0012506, GO:0005794, GO:0005737, GO:0005737, GO:0005737, extracellular exosome, membrane, vesicle membrane, Golgi apparatus, cytoplasm, cytoplasm, cytoplasm, GO:0071889, GO:0005515, 14-3-3 protein binding, protein binding, GO:0090316, GO:0051683, GO:0034067, GO:0030335, GO:0009611, GO:0009267, GO:0007266, positive regulation of intracellular protein transport, establishment of Golgi localization, protein localization to Golgi apparatus, positive regulation of cell migration, response to wounding, cellular response to starvation, Rho protein signal transduction, 912 1331 1865 858 1159 1145 887 947 1108 ENSG00000039537 chr5 41142234 41261438 - C6 protein_coding This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]. 729 GO:0070062, GO:0005579, GO:0005576, extracellular exosome, membrane attack complex, extracellular region, GO:0005515, protein binding, GO:0045766, GO:0045087, GO:0030449, GO:0019835, GO:0006958, GO:0006956, GO:0001970, GO:0001701, positive regulation of angiogenesis, innate immune response, regulation of complement activation, cytolysis, complement activation, classical pathway, complement activation, positive regulation of activation of membrane attack complex, in utero embryonic development, 0 0 0 0 0 0 0 0 0 ENSG00000039560 chr5 34656237 34832627 + RAI14 protein_coding 26064 GO:0030054, GO:0005938, GO:0005856, GO:0005829, GO:0005654, GO:0001650, cell junction, cell cortex, cytoskeleton, cytosol, nucleoplasm, fibrillar center, GO:0005515, GO:0003779, protein binding, actin binding, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 2 0 2 1 0 0 1 0 ENSG00000039600 chr5 157625679 157671480 - SOX30 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]. 11063 GO:0010369, GO:0005737, GO:0005634, GO:0005634, GO:0000785, chromocenter, cytoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:1990837, GO:0008013, GO:0005515, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, beta-catenin binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0120211, GO:0045944, GO:0031960, GO:0030178, GO:0007286, GO:0006357, GO:0000122, proacrosomal vesicle fusion, positive regulation of transcription by RNA polymerase II, response to corticosteroid, negative regulation of Wnt signaling pathway, spermatid development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 2 2 7 0 0 0 0 ENSG00000039650 chr19 49859882 49878351 - PNKP protein_coding This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]. 11284 GO:0016020, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, membrane, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046404, GO:0046404, GO:0046403, GO:0046403, GO:0046403, GO:0017076, GO:0005524, GO:0005515, GO:0004519, GO:0003690, GO:0003690, GO:0003684, ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity, ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity, polynucleotide 3'-phosphatase activity, polynucleotide 3'-phosphatase activity, polynucleotide 3'-phosphatase activity, purine nucleotide binding, ATP binding, protein binding, endonuclease activity, double-stranded DNA binding, double-stranded DNA binding, damaged DNA binding, GO:2001034, GO:1904355, GO:0098506, GO:0090305, GO:0051973, GO:0046939, GO:0046939, GO:0042769, GO:0042769, GO:0032212, GO:0016311, GO:0010836, GO:0009314, GO:0009314, GO:0006979, GO:0006281, GO:0006281, GO:0006261, GO:0000718, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of telomere capping, polynucleotide 3' dephosphorylation, nucleic acid phosphodiester bond hydrolysis, positive regulation of telomerase activity, nucleotide phosphorylation, nucleotide phosphorylation, DNA damage response, detection of DNA damage, DNA damage response, detection of DNA damage, positive regulation of telomere maintenance via telomerase, dephosphorylation, negative regulation of protein ADP-ribosylation, response to radiation, response to radiation, response to oxidative stress, DNA repair, DNA repair, DNA-dependent DNA replication, nucleotide-excision repair, DNA damage removal, 637 878 884 622 1004 925 752 805 780 ENSG00000039987 chr19 12751702 12758458 + BEST2 protein_coding This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]. 54831 GO:0034707, GO:0005929, GO:0005886, chloride channel complex, cilium, plasma membrane, GO:0005515, GO:0005254, GO:0003674, protein binding, chloride channel activity, molecular_function, GO:1902476, GO:0051899, GO:0008150, GO:0007608, chloride transmembrane transport, membrane depolarization, biological_process, sensory perception of smell, 0 0 0 3 0 0 0 1 0 ENSG00000040199 chr16 71637835 71724701 - PHLPP2 protein_coding 23035 GO:0043231, GO:0042622, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0001917, intracellular membrane-bounded organelle, photoreceptor outer segment membrane, cytosol, cytoplasm, cytoplasm, nucleus, photoreceptor inner segment, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, protein serine/threonine phosphatase activity, GO:0051898, GO:0021766, GO:0007165, GO:0006470, negative regulation of protein kinase B signaling, hippocampus development, signal transduction, protein dephosphorylation, 12 7 37 22 13 43 19 10 14 ENSG00000040275 chr5 169583634 169604778 + SPDL1 protein_coding This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]. 54908 GO:0005829, GO:0005815, GO:0005634, GO:0000940, GO:0000940, GO:0000922, GO:0000922, cytosol, microtubule organizing center, nucleus, condensed chromosome outer kinetochore, condensed chromosome outer kinetochore, spindle pole, spindle pole, GO:0043515, GO:0043515, GO:0019899, GO:0005515, kinetochore binding, kinetochore binding, enzyme binding, protein binding, GO:0051301, GO:0034501, GO:0034501, GO:0016477, GO:0007094, GO:0007080, GO:0007080, GO:0000132, GO:0000132, cell division, protein localization to kinetochore, protein localization to kinetochore, cell migration, mitotic spindle assembly checkpoint, mitotic metaphase plate congression, mitotic metaphase plate congression, establishment of mitotic spindle orientation, establishment of mitotic spindle orientation, 10 4 20 35 18 28 5 12 15 ENSG00000040341 chr8 73420369 73747708 - STAU2 protein_coding Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. 27067 GO:0016020, GO:0005874, GO:0005783, GO:0005730, membrane, microtubule, endoplasmic reticulum, nucleolus, GO:0005515, GO:0003725, GO:0003723, protein binding, double-stranded RNA binding, RNA binding, 205 195 259 124 128 190 141 128 171 ENSG00000040487 chr1 19312326 19329300 + PQLC2 protein_coding 54896 GO:0043231, GO:0031301, GO:0016021, GO:0005765, GO:0005765, GO:0005765, intracellular membrane-bounded organelle, integral component of organelle membrane, integral component of membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, GO:0015189, GO:0015189, GO:0015181, GO:0015181, GO:0015174, GO:0015174, GO:0015174, L-lysine transmembrane transporter activity, L-lysine transmembrane transporter activity, arginine transmembrane transporter activity, arginine transmembrane transporter activity, basic amino acid transmembrane transporter activity, basic amino acid transmembrane transporter activity, basic amino acid transmembrane transporter activity, GO:1903826, GO:1903401, GO:0080144, GO:0055085, GO:0015819, GO:0015809, arginine transmembrane transport, L-lysine transmembrane transport, amino acid homeostasis, transmembrane transport, lysine transport, arginine transport, 83 71 108 162 146 143 144 86 116 ENSG00000040531 chr17 3636468 3661542 + CTNS protein_coding This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. 1497 GO:0070062, GO:0045111, GO:0043231, GO:0042470, GO:0016021, GO:0005886, GO:0005774, GO:0005770, GO:0005769, GO:0005765, GO:0005765, GO:0005765, GO:0005765, GO:0005765, GO:0005764, extracellular exosome, intermediate filament cytoskeleton, intracellular membrane-bounded organelle, melanosome, integral component of membrane, plasma membrane, vacuolar membrane, late endosome, early endosome, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, GO:0015184, GO:0015184, GO:0015184, GO:0015184, L-cystine transmembrane transporter activity, L-cystine transmembrane transporter activity, L-cystine transmembrane transporter activity, L-cystine transmembrane transporter activity, GO:0055085, GO:0050890, GO:0046034, GO:0042438, GO:0015811, GO:0015811, GO:0015811, GO:0010918, GO:0010730, GO:0008542, GO:0007628, GO:0007625, GO:0007616, GO:0007420, GO:0006811, GO:0006749, GO:0006520, GO:0002088, transmembrane transport, cognition, ATP metabolic process, melanin biosynthetic process, L-cystine transport, L-cystine transport, L-cystine transport, positive regulation of mitochondrial membrane potential, negative regulation of hydrogen peroxide biosynthetic process, visual learning, adult walking behavior, grooming behavior, long-term memory, brain development, ion transport, glutathione metabolic process, cellular amino acid metabolic process, lens development in camera-type eye, 62 74 70 72 76 81 103 71 56 ENSG00000040608 chr22 20241415 20283246 - RTN4R protein_coding This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]. 65078 GO:0098978, GO:0098793, GO:0070062, GO:0045121, GO:0044295, GO:0043204, GO:0043198, GO:0043025, GO:0043005, GO:0031362, GO:0009986, GO:0005887, GO:0005886, GO:0005783, glutamatergic synapse, presynapse, extracellular exosome, membrane raft, axonal growth cone, perikaryon, dendritic shaft, neuronal cell body, neuron projection, anchored component of external side of plasma membrane, cell surface, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:1905576, GO:1905573, GO:0044877, GO:0038131, GO:0038023, GO:0038023, GO:0035374, GO:0008201, GO:0005515, ganglioside GT1b binding, ganglioside GM1 binding, protein-containing complex binding, neuregulin receptor activity, signaling receptor activity, signaling receptor activity, chondroitin sulfate binding, heparin binding, protein binding, GO:0050771, GO:0048681, GO:0043547, GO:0035025, GO:0030517, GO:0023041, GO:0022038, GO:0010977, GO:0007409, GO:0007166, negative regulation of axonogenesis, negative regulation of axon regeneration, positive regulation of GTPase activity, positive regulation of Rho protein signal transduction, negative regulation of axon extension, neuronal signal transduction, corpus callosum development, negative regulation of neuron projection development, axonogenesis, cell surface receptor signaling pathway, 1 0 0 1 5 5 6 0 0 ENSG00000040633 chr17 7235028 7239722 - PHF23 protein_coding 79142 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:1902902, GO:1902902, GO:1901097, GO:1901097, GO:0031398, GO:0031398, GO:0006914, negative regulation of autophagosome assembly, negative regulation of autophagosome assembly, negative regulation of autophagosome maturation, negative regulation of autophagosome maturation, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, autophagy, 894 819 976 307 372 307 253 302 167 ENSG00000040731 chr5 24487100 24644978 - CDH10 protein_coding This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. Mutations in this gene may be associated with lung squamous cell carcinoma and colorectal cancer in human patients. [provided by RefSeq, Nov 2015]. 1008 GO:0016342, GO:0016021, GO:0005912, GO:0005886, catenin complex, integral component of membrane, adherens junction, plasma membrane, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0098609, GO:0034332, GO:0034332, GO:0016339, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, adherens junction organization, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000040933 chr2 98444854 98594390 + INPP4A protein_coding This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]. 3631 GO:0055038, GO:0031901, GO:0014069, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, recycling endosome membrane, early endosome membrane, postsynaptic density, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, GO:0034597, GO:0016316, GO:0005515, phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity, phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity, protein binding, GO:0043647, GO:0036092, GO:0016311, GO:0007165, GO:0006661, inositol phosphate metabolic process, phosphatidylinositol-3-phosphate biosynthetic process, dephosphorylation, signal transduction, phosphatidylinositol biosynthetic process, 1267 1274 1397 977 1143 1198 1091 889 917 ENSG00000041353 chr18 54717860 54895516 + RAB27B protein_coding Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]. 5874 GO:1904115, GO:0098993, GO:0070062, GO:0042589, GO:0042470, GO:0042470, GO:0032585, GO:0031088, GO:0030141, GO:0030140, GO:0016324, GO:0005886, GO:0005795, GO:0005770, axon cytoplasm, anchored component of synaptic vesicle membrane, extracellular exosome, zymogen granule membrane, melanosome, melanosome, multivesicular body membrane, platelet dense granule membrane, secretory granule, trans-Golgi network transport vesicle, apical plasma membrane, plasma membrane, Golgi stack, late endosome, GO:0031489, GO:0019904, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, myosin V binding, protein domain specific binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:0099641, GO:0071985, GO:0048488, GO:0045921, GO:0045921, GO:0032402, GO:0002576, anterograde axonal protein transport, multivesicular body sorting pathway, synaptic vesicle endocytosis, positive regulation of exocytosis, positive regulation of exocytosis, melanosome transport, platelet degranulation, 6 5 12 21 6 36 28 7 10 ENSG00000041357 chr15 78540405 78552419 + PSMA4 protein_coding This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]. 5685 GO:0070062, GO:0043231, GO:0019773, GO:0019773, GO:0019773, GO:0005839, GO:0005839, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000932, GO:0000502, extracellular exosome, intracellular membrane-bounded organelle, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, P-body, proteasome complex, GO:0005515, GO:0004298, GO:0004175, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 770 596 1004 394 444 423 379 406 460 ENSG00000041515 chr13 108596152 109208007 + MYO16 protein_coding This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017]. 23026 GO:0048471, GO:0048471, GO:0016459, GO:0005886, GO:0005737, GO:0005654, GO:0005654, perinuclear region of cytoplasm, perinuclear region of cytoplasm, myosin complex, plasma membrane, cytoplasm, nucleoplasm, nucleoplasm, GO:0051015, GO:0051015, GO:0019903, GO:0005524, GO:0005515, GO:0003774, actin filament binding, actin filament binding, protein phosphatase binding, ATP binding, protein binding, motor activity, GO:2000134, GO:2000134, GO:0048812, GO:0021549, GO:0014065, GO:0008285, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of G1/S transition of mitotic cell cycle, neuron projection morphogenesis, cerebellum development, phosphatidylinositol 3-kinase signaling, negative regulation of cell population proliferation, 1 0 6 6 1 3 1 0 2 ENSG00000041802 chr3 194640788 194672477 - LSG1 protein_coding This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009]. 55341 GO:0016604, GO:0016020, GO:0015030, GO:0005829, GO:0005829, GO:0005783, GO:0005654, nuclear body, membrane, Cajal body, cytosol, cytosol, endoplasmic reticulum, nucleoplasm, GO:0005525, GO:0003924, GO:0003924, GTP binding, GTPase activity, GTPase activity, GO:0051168, GO:0000054, nuclear export, ribosomal subunit export from nucleus, 106 127 152 164 161 222 183 105 149 ENSG00000041880 chr3 51942345 51948867 + PARP3 protein_coding The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 10039 GO:0035861, GO:0035861, GO:0016604, GO:0005814, GO:0005737, GO:0005730, GO:0005654, site of double-strand break, site of double-strand break, nuclear body, centriole, cytoplasm, nucleolus, nucleoplasm, GO:1990404, GO:1990404, GO:0140294, GO:0005515, GO:0003950, GO:0003950, GO:0003824, protein ADP-ribosylase activity, protein ADP-ribosylase activity, NAD DNA ADP-ribosyltransferase activity, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, catalytic activity, GO:2001034, GO:1990166, GO:1905662, GO:0140289, GO:0070213, GO:0070212, GO:0060236, GO:0051106, GO:0045829, GO:0030592, GO:0006471, GO:0006302, GO:0006302, GO:0006302, GO:0006281, GO:0000723, positive regulation of double-strand break repair via nonhomologous end joining, protein localization to site of double-strand break, negative regulation of telomerase RNA reverse transcriptase activity, protein mono-ADP-ribosylation, protein auto-ADP-ribosylation, protein poly-ADP-ribosylation, regulation of mitotic spindle organization, positive regulation of DNA ligation, negative regulation of isotype switching, DNA ADP-ribosylation, protein ADP-ribosylation, double-strand break repair, double-strand break repair, double-strand break repair, DNA repair, telomere maintenance, 10 10 9 20 11 7 32 4 6 ENSG00000041982 chr9 115019578 115118257 - TNC protein_coding This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011]. 3371 GO:0098966, GO:0062023, GO:0062023, GO:0062023, GO:0016020, GO:0005925, GO:0005788, GO:0005615, GO:0005614, GO:0005604, GO:0005576, GO:0005576, perisynaptic extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, membrane, focal adhesion, endoplasmic reticulum lumen, extracellular space, interstitial matrix, basement membrane, extracellular region, extracellular region, GO:0045545, GO:0005515, GO:0005201, GO:0005201, syndecan binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0060740, GO:0060739, GO:0044267, GO:0043687, GO:0030198, GO:0014012, GO:0010628, GO:0009611, GO:0008284, GO:0007528, GO:0007155, GO:0001649, prostate gland epithelium morphogenesis, mesenchymal-epithelial cell signaling involved in prostate gland development, cellular protein metabolic process, post-translational protein modification, extracellular matrix organization, peripheral nervous system axon regeneration, positive regulation of gene expression, response to wounding, positive regulation of cell population proliferation, neuromuscular junction development, cell adhesion, osteoblast differentiation, 0 2 9 4 2 0 5 2 0 ENSG00000041988 chr1 6624866 6635586 + THAP3 protein_coding 90326 GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0045944, positive regulation of transcription by RNA polymerase II, 37 30 40 45 30 66 42 48 52 ENSG00000042062 chr20 50586108 50691528 - RIPOR3 protein_coding 140876 GO:0005515, protein binding, 10 16 17 21 24 19 12 20 10 ENSG00000042088 chr14 89954939 90044768 + TDP1 protein_coding The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]. 55775 GO:0043231, GO:0005886, GO:0005737, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, plasma membrane, cytoplasm, nucleoplasm, nucleus, GO:0017005, GO:0017005, GO:0005515, GO:0004527, GO:0003697, GO:0003697, GO:0003690, GO:0003690, 3'-tyrosyl-DNA phosphodiesterase activity, 3'-tyrosyl-DNA phosphodiesterase activity, protein binding, exonuclease activity, single-stranded DNA binding, single-stranded DNA binding, double-stranded DNA binding, double-stranded DNA binding, GO:0090305, GO:0006302, GO:0006302, GO:0006281, GO:0000012, GO:0000012, GO:0000012, nucleic acid phosphodiester bond hydrolysis, double-strand break repair, double-strand break repair, DNA repair, single strand break repair, single strand break repair, single strand break repair, 29 32 59 80 32 89 64 31 44 ENSG00000042286 chr10 70098223 70132934 - AIFM2 protein_coding This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]. 84883 GO:0016021, GO:0005886, GO:0005829, GO:0005811, GO:0005741, GO:0005741, GO:0005739, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0005615, integral component of membrane, plasma membrane, cytosol, lipid droplet, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, cytoplasm, cytoplasm, nucleus, extracellular space, GO:0050660, GO:0050660, GO:0016655, GO:0005515, GO:0004174, GO:0004174, GO:0003677, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, protein binding, electron-transferring-flavoprotein dehydrogenase activity, electron-transferring-flavoprotein dehydrogenase activity, DNA binding, GO:1900407, GO:0110076, GO:0043065, GO:0043065, GO:0042981, GO:0022904, GO:0008637, GO:0008637, GO:0006743, regulation of cellular response to oxidative stress, negative regulation of ferroptosis, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, respiratory electron transport chain, apoptotic mitochondrial changes, apoptotic mitochondrial changes, ubiquinone metabolic process, 4 8 8 25 3 17 14 6 10 ENSG00000042304 chr2 227610090 227648606 - C2orf83 protein_coding 56918 GO:0016021, integral component of membrane, GO:0090482, GO:0005515, vitamin transmembrane transporter activity, protein binding, GO:0035461, vitamin transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000042317 chr14 88384924 88470350 + SPATA7 protein_coding This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 55812 GO:0120206, GO:0120200, GO:0036064, GO:0036064, GO:0032391, GO:0015630, GO:0005930, GO:0005930, GO:0005829, GO:0005739, GO:0005654, photoreceptor distal connecting cilium, rod photoreceptor outer segment, ciliary basal body, ciliary basal body, photoreceptor connecting cilium, microtubule cytoskeleton, axoneme, axoneme, cytosol, mitochondrion, nucleoplasm, GO:0005515, protein binding, GO:1903621, GO:1903621, GO:1903546, GO:1903546, GO:0050896, GO:0045494, GO:0045494, GO:0007601, GO:0000226, protein localization to photoreceptor connecting cilium, protein localization to photoreceptor connecting cilium, protein localization to photoreceptor outer segment, protein localization to photoreceptor outer segment, response to stimulus, photoreceptor cell maintenance, photoreceptor cell maintenance, visual perception, microtubule cytoskeleton organization, 3 3 1 15 8 8 4 4 2 ENSG00000042429 chr11 93784227 93814963 + MED17 protein_coding The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]. 9440 GO:0070847, GO:0016592, GO:0016592, GO:0016020, GO:0005667, GO:0005654, GO:0005634, core mediator complex, mediator complex, mediator complex, membrane, transcription regulator complex, nucleoplasm, nucleus, GO:0046966, GO:0042809, GO:0030374, GO:0030374, GO:0005515, GO:0003713, GO:0003712, GO:0003712, thyroid hormone receptor binding, vitamin D receptor binding, nuclear receptor coactivator activity, nuclear receptor coactivator activity, protein binding, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, GO:0060261, GO:0045944, GO:0045893, GO:0006367, GO:0006357, GO:0006357, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 48 40 49 39 55 67 58 31 35 ENSG00000042445 chr2 85342088 85354620 - RETSAT protein_coding 54884 GO:0031965, GO:0016020, GO:0005789, GO:0005789, GO:0005640, nuclear membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, nuclear outer membrane, GO:0051786, GO:0051786, GO:0016491, all-trans-retinol 13,14-reductase activity, all-trans-retinol 13,14-reductase activity, oxidoreductase activity, GO:0055114, GO:0042572, GO:0042572, oxidation-reduction process, retinol metabolic process, retinol metabolic process, 154 111 251 139 150 161 138 86 136 ENSG00000042493 chr2 85394748 85418432 - CAPG protein_coding This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]. 822 GO:0090543, GO:0072686, GO:0070062, GO:0042470, GO:0030027, GO:0015629, GO:0008290, GO:0005814, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005615, GO:0001726, Flemming body, mitotic spindle, extracellular exosome, melanosome, lamellipodium, actin cytoskeleton, F-actin capping protein complex, centriole, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, extracellular space, ruffle, GO:0051015, GO:0045296, GO:0044877, GO:0019904, GO:0005546, GO:0005515, actin filament binding, cadherin binding, protein-containing complex binding, protein domain specific binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0071803, GO:0065003, GO:0051016, GO:0051014, GO:0030031, GO:0022617, GO:0008154, GO:0007417, positive regulation of podosome assembly, protein-containing complex assembly, barbed-end actin filament capping, actin filament severing, cell projection assembly, extracellular matrix disassembly, actin polymerization or depolymerization, central nervous system development, 116 145 222 82 100 107 68 104 105 ENSG00000042753 chr19 46838136 46850992 - AP2S1 protein_coding One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 1175 GO:0045334, GO:0043231, GO:0036020, GO:0030669, GO:0030666, GO:0030122, GO:0005886, GO:0005829, clathrin-coated endocytic vesicle, intracellular membrane-bounded organelle, endolysosome membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, AP-2 adaptor complex, plasma membrane, cytosol, GO:0035615, GO:0005515, clathrin adaptor activity, protein binding, GO:0072583, GO:0061024, GO:0060071, GO:0050690, GO:0048268, GO:0048013, GO:0034383, GO:0032802, GO:0030100, GO:0019886, GO:0016192, GO:0006886, clathrin-dependent endocytosis, membrane organization, Wnt signaling pathway, planar cell polarity pathway, regulation of defense response to virus by virus, clathrin coat assembly, ephrin receptor signaling pathway, low-density lipoprotein particle clearance, low-density lipoprotein particle receptor catabolic process, regulation of endocytosis, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, intracellular protein transport, 104 120 133 106 142 116 91 118 109 ENSG00000042781 chr1 215622894 216423396 - USH2A protein_coding This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 7399 GO:1990696, GO:1990075, GO:0060171, GO:0043195, GO:0043025, GO:0036064, GO:0032421, GO:0032391, GO:0016324, GO:0016021, GO:0005737, GO:0005604, GO:0005604, GO:0002142, GO:0002141, GO:0001917, USH2 complex, periciliary membrane compartment, stereocilium membrane, terminal bouton, neuronal cell body, ciliary basal body, stereocilium bundle, photoreceptor connecting cilium, apical plasma membrane, integral component of membrane, cytoplasm, basement membrane, basement membrane, stereocilia ankle link complex, stereocilia ankle link, photoreceptor inner segment, GO:0042802, GO:0017022, GO:0005518, GO:0005515, identical protein binding, myosin binding, collagen binding, protein binding, GO:0060113, GO:0050953, GO:0050896, GO:0048496, GO:0045494, GO:0045184, GO:0035315, GO:0034446, GO:0016477, GO:0009888, GO:0009887, GO:0007605, GO:0007601, inner ear receptor cell differentiation, sensory perception of light stimulus, response to stimulus, maintenance of animal organ identity, photoreceptor cell maintenance, establishment of protein localization, hair cell differentiation, substrate adhesion-dependent cell spreading, cell migration, tissue development, animal organ morphogenesis, sensory perception of sound, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000042813 chr7 49850421 50121329 - ZPBP protein_coding ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]. 11055 GO:0005634, GO:0005576, GO:0002199, GO:0002080, GO:0001669, nucleus, extracellular region, zona pellucida receptor complex, acrosomal membrane, acrosomal vesicle, GO:0007339, GO:0001675, binding of sperm to zona pellucida, acrosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000042832 chr8 132866958 133134903 + TG protein_coding Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]. 7038 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0005515, GO:0005179, identical protein binding, protein binding, hormone activity, GO:0042446, GO:0031641, GO:0030878, GO:0015705, GO:0007165, GO:0006590, GO:0006590, GO:0006590, hormone biosynthetic process, regulation of myelination, thyroid gland development, iodide transport, signal transduction, thyroid hormone generation, thyroid hormone generation, thyroid hormone generation, 112 135 105 98 175 135 111 100 119 ENSG00000042980 chr8 24294040 24359018 + ADAM28 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 10863 GO:0016021, GO:0005886, GO:0005886, GO:0005739, GO:0005576, integral component of membrane, plasma membrane, plasma membrane, mitochondrion, extracellular region, GO:0046872, GO:0008237, GO:0008237, GO:0005515, GO:0004222, GO:0004175, metal ion binding, metallopeptidase activity, metallopeptidase activity, protein binding, metalloendopeptidase activity, endopeptidase activity, GO:0007283, GO:0006508, spermatogenesis, proteolysis, 267 467 589 142 405 438 133 317 341 ENSG00000043039 chr11 129375940 129452279 + BARX2 protein_coding This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]. 8538 GO:0005829, GO:0005667, GO:0005654, GO:0005634, GO:0000785, cytosol, transcription regulator complex, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0014902, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, myotube differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000043093 chr3 182938074 182985953 - DCUN1D1 protein_coding 54165 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000151, GO:0000151, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, ubiquitin ligase complex, GO:0097602, GO:0097602, GO:0032182, GO:0031624, GO:0005515, cullin family protein binding, cullin family protein binding, ubiquitin-like protein binding, ubiquitin conjugating enzyme binding, protein binding, GO:2000436, GO:2000434, GO:0051443, GO:0045116, GO:0043687, GO:0031396, positive regulation of protein neddylation, regulation of protein neddylation, positive regulation of ubiquitin-protein transferase activity, protein neddylation, post-translational protein modification, regulation of protein ubiquitination, 438 402 479 187 354 307 252 300 311 ENSG00000043143 chr5 134524312 134583230 + JADE2 protein_coding 23338 GO:0070062, GO:0005654, GO:0000123, GO:0000123, extracellular exosome, nucleoplasm, histone acetyltransferase complex, histone acetyltransferase complex, GO:0046872, GO:0016740, GO:0005515, metal ion binding, transferase activity, protein binding, GO:0043984, GO:0043983, GO:0043982, GO:0043982, GO:0043981, GO:0043981, GO:0043966, GO:0043966, GO:0016567, histone H4-K16 acetylation, histone H4-K12 acetylation, histone H4-K8 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H4-K5 acetylation, histone H3 acetylation, histone H3 acetylation, protein ubiquitination, 203 267 381 354 266 435 288 221 325 ENSG00000043355 chr13 99981772 99986773 + ZIC2 protein_coding This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]. 7546 GO:0016604, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear body, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0031490, GO:0003700, GO:0003677, GO:0000981, GO:0000978, metal ion binding, chromatin DNA binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051091, GO:0045893, GO:0045892, GO:0030154, GO:0007601, GO:0007420, GO:0007417, GO:0006357, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, cell differentiation, visual perception, brain development, central nervous system development, regulation of transcription by RNA polymerase II, 0 0 0 2 0 0 0 0 0 ENSG00000043462 chr5 170246237 170298227 - LCP2 protein_coding This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]. 3937 GO:0044853, GO:0036398, GO:0005911, GO:0005829, GO:0005829, plasma membrane raft, TCR signalosome, cell-cell junction, cytosol, cytosol, GO:0005515, protein binding, GO:0050852, GO:0050852, GO:0045860, GO:0045576, GO:0038095, GO:0035556, GO:0030168, GO:0007169, GO:0006955, GO:0001816, T cell receptor signaling pathway, T cell receptor signaling pathway, positive regulation of protein kinase activity, mast cell activation, Fc-epsilon receptor signaling pathway, intracellular signal transduction, platelet activation, transmembrane receptor protein tyrosine kinase signaling pathway, immune response, cytokine production, 9057 9031 17732 6327 7997 11048 8176 6706 9371 ENSG00000043514 chr1 39838110 39883511 - TRIT1 protein_coding This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]. 54802 GO:0005759, GO:0005739, GO:0005575, mitochondrial matrix, mitochondrion, cellular_component, GO:0052381, GO:0052381, GO:0052381, GO:0008270, GO:0005524, GO:0003676, tRNA dimethylallyltransferase activity, tRNA dimethylallyltransferase activity, tRNA dimethylallyltransferase activity, zinc ion binding, ATP binding, nucleic acid binding, GO:0070900, GO:0006400, mitochondrial tRNA modification, tRNA modification, 12 6 10 13 14 42 17 13 11 ENSG00000043591 chr10 114044056 114046908 + ADRB1 protein_coding The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]. 153 GO:0098685, GO:0005887, GO:0005886, GO:0005886, GO:0005769, Schaffer collateral - CA1 synapse, integral component of plasma membrane, plasma membrane, plasma membrane, early endosome, GO:0099579, GO:0046982, GO:0031694, GO:0030165, GO:0005515, GO:0005085, GO:0004940, GO:0004939, GO:0004930, G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential, protein heterodimerization activity, alpha-2A adrenergic receptor binding, PDZ domain binding, protein binding, guanyl-nucleotide exchange factor activity, beta1-adrenergic receptor activity, beta-adrenergic receptor activity, G protein-coupled receptor activity, GO:0120162, GO:0071880, GO:0071880, GO:0060078, GO:0050873, GO:0045187, GO:0043547, GO:0042596, GO:0040015, GO:0031649, GO:0009409, GO:0007190, GO:0007186, GO:0002025, GO:0002024, GO:0001997, GO:0001996, positive regulation of cold-induced thermogenesis, adenylate cyclase-activating adrenergic receptor signaling pathway, adenylate cyclase-activating adrenergic receptor signaling pathway, regulation of postsynaptic membrane potential, brown fat cell differentiation, regulation of circadian sleep/wake cycle, sleep, positive regulation of GTPase activity, fear response, negative regulation of multicellular organism growth, heat generation, response to cold, activation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure, diet induced thermogenesis, positive regulation of the force of heart contraction by epinephrine-norepinephrine, positive regulation of heart rate by epinephrine-norepinephrine, 0 0 0 0 0 3 0 0 6 ENSG00000044012 chr1 42153421 42155824 + GUCA2B protein_coding This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products, including uroguanylin, a member of the guanylin family of peptides and an endogenous ligand of the guanylate cyclase-C receptor. Binding of this peptide to its cognate receptor stimulates an increase in cyclic GMP and may regulate salt and water homeostasis in the intestine and kidneys. [provided by RefSeq, Nov 2015]. 2981 GO:0070062, GO:0005576, GO:0001750, extracellular exosome, extracellular region, photoreceptor outer segment, GO:0030250, GO:0008048, GO:0005515, guanylate cyclase activator activity, calcium sensitive guanylate cyclase activator activity, protein binding, GO:0045776, GO:0031284, GO:0019934, GO:0007589, GO:0007588, GO:0007586, negative regulation of blood pressure, positive regulation of guanylate cyclase activity, cGMP-mediated signaling, body fluid secretion, excretion, digestion, 0 0 0 0 0 0 0 0 0 ENSG00000044090 chr6 43037617 43053945 - CUL7 protein_coding The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 9820 GO:1990393, GO:0048471, GO:0031467, GO:0031461, GO:0005829, GO:0005813, GO:0005794, GO:0005794, GO:0005737, GO:0005680, 3M complex, perinuclear region of cytoplasm, Cul7-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, cytosol, centrosome, Golgi apparatus, Golgi apparatus, cytoplasm, anaphase-promoting complex, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0050775, GO:0050775, GO:0043687, GO:0036498, GO:0016567, GO:0016567, GO:0016567, GO:0016567, GO:0016032, GO:0007088, GO:0007088, GO:0007030, GO:0006511, GO:0006508, GO:0001890, GO:0001837, GO:0001570, GO:0000281, GO:0000226, positive regulation of dendrite morphogenesis, positive regulation of dendrite morphogenesis, post-translational protein modification, IRE1-mediated unfolded protein response, protein ubiquitination, protein ubiquitination, protein ubiquitination, protein ubiquitination, viral process, regulation of mitotic nuclear division, regulation of mitotic nuclear division, Golgi organization, ubiquitin-dependent protein catabolic process, proteolysis, placenta development, epithelial to mesenchymal transition, vasculogenesis, mitotic cytokinesis, microtubule cytoskeleton organization, 89 143 125 105 126 123 130 120 108 ENSG00000044115 chr5 138610967 138935034 + CTNNA1 protein_coding This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]. 1495 GO:0043231, GO:0030054, GO:0030027, GO:0016600, GO:0016342, GO:0015629, GO:0014704, GO:0005925, GO:0005915, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0001669, intracellular membrane-bounded organelle, cell junction, lamellipodium, flotillin complex, catenin complex, actin cytoskeleton, intercalated disc, focal adhesion, zonula adherens, cell-cell junction, plasma membrane, plasma membrane, cytosol, acrosomal vesicle, GO:0051015, GO:0045296, GO:0045296, GO:0045295, GO:0042802, GO:0017166, GO:0008013, GO:0005515, GO:0005198, GO:0003723, actin filament binding, cadherin binding, cadherin binding, gamma-catenin binding, identical protein binding, vinculin binding, beta-catenin binding, protein binding, structural molecule activity, RNA binding, GO:2001241, GO:2001240, GO:2001045, GO:2000146, GO:1900181, GO:0090136, GO:0071681, GO:0051149, GO:0045880, GO:0043627, GO:0043297, GO:0042475, GO:0034613, GO:0034332, GO:0031103, GO:0016264, GO:0008584, GO:0007568, GO:0007406, GO:0007163, GO:0007155, GO:0001541, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of integrin-mediated signaling pathway, negative regulation of cell motility, negative regulation of protein localization to nucleus, epithelial cell-cell adhesion, cellular response to indole-3-methanol, positive regulation of muscle cell differentiation, positive regulation of smoothened signaling pathway, response to estrogen, apical junction assembly, odontogenesis of dentin-containing tooth, cellular protein localization, adherens junction organization, axon regeneration, gap junction assembly, male gonad development, aging, negative regulation of neuroblast proliferation, establishment or maintenance of cell polarity, cell adhesion, ovarian follicle development, 1168 1162 1704 450 782 711 649 653 752 ENSG00000044446 chrX 18892300 18984598 - PHKA2 protein_coding Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]. 5256 GO:0005964, GO:0005886, GO:0005829, phosphorylase kinase complex, plasma membrane, cytosol, GO:0005516, GO:0005515, GO:0004689, calmodulin binding, protein binding, phosphorylase kinase activity, GO:0006468, GO:0006464, GO:0006091, GO:0005980, GO:0005975, protein phosphorylation, cellular protein modification process, generation of precursor metabolites and energy, glycogen catabolic process, carbohydrate metabolic process, 650 726 923 474 647 682 540 477 497 ENSG00000044459 chr9 17134982 17503923 + CNTLN protein_coding 54875 GO:0070062, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005654, extracellular exosome, cytosol, centriole, centriole, centrosome, centrosome, cytoplasm, nucleoplasm, GO:0030674, GO:0019904, GO:0019901, protein-macromolecule adaptor activity, protein domain specific binding, protein kinase binding, GO:0033365, GO:0033365, GO:0010457, GO:0010457, protein localization to organelle, protein localization to organelle, centriole-centriole cohesion, centriole-centriole cohesion, 6 7 12 15 10 18 14 6 9 ENSG00000044524 chr3 89107524 89482134 + EPHA3 protein_coding This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]. 2042 GO:0043235, GO:0043005, GO:0031965, GO:0015629, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005769, GO:0005654, GO:0005576, receptor complex, neuron projection, nuclear membrane, actin cytoskeleton, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, early endosome, nucleoplasm, extracellular region, GO:0005524, GO:0005515, GO:0005005, GO:0005004, GO:0005003, GO:0004714, ATP binding, protein binding, transmembrane-ephrin receptor activity, GPI-linked ephrin receptor activity, ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:1903078, GO:0097156, GO:0097155, GO:0071300, GO:0070507, GO:0051893, GO:0048013, GO:0048013, GO:0045806, GO:0043087, GO:0033674, GO:0032956, GO:0018108, GO:0016477, GO:0010976, GO:0010717, GO:0007411, GO:0007275, GO:0007169, GO:0007155, positive regulation of protein localization to plasma membrane, fasciculation of motor neuron axon, fasciculation of sensory neuron axon, cellular response to retinoic acid, regulation of microtubule cytoskeleton organization, regulation of focal adhesion assembly, ephrin receptor signaling pathway, ephrin receptor signaling pathway, negative regulation of endocytosis, regulation of GTPase activity, positive regulation of kinase activity, regulation of actin cytoskeleton organization, peptidyl-tyrosine phosphorylation, cell migration, positive regulation of neuron projection development, regulation of epithelial to mesenchymal transition, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, 0 0 0 0 0 1 0 0 0 ENSG00000044574 chr9 125234853 125241330 - HSPA5 protein_coding The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. This protein localizes to the lumen of the endoplasmic reticulum (ER) where it operates as a typical HSP70 chaperone involved in the folding and assembly of proteins in the ER and is a master regulator of ER homeostasis. During cellular stress, as during viral infection or tumorogenesis, this protein interacts with the transmembrane stress sensor proteins PERK (protein kinase R-like endoplasmic reticulum kinase), IRE1 (inositol-requiring kinase 1), and ATF6 (activating transcription factor 6) where it acts as a repressor of the unfolded protein response (UPR) and also plays a role in cellular apoptosis and senescence. Elevated expression and atypical translocation of this protein to the cell surface has been reported in viral infections and some types of cancer cells. At the cell surface this protein may facilitate viral attachment and entry to host cells. This gene is a therapeutic target for the treatment of coronavirus diseases and chemoresistant cancers. [provided by RefSeq, Jul 2020]. 3309 GO:0070062, GO:0043231, GO:0042470, GO:0034663, GO:0034663, GO:0032991, GO:0030496, GO:0030176, GO:0016020, GO:0016020, GO:0009986, GO:0008180, GO:0005925, GO:0005886, GO:0005829, GO:0005793, GO:0005790, GO:0005789, GO:0005788, GO:0005788, GO:0005788, GO:0005783, GO:0005783, GO:0005783, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005634, extracellular exosome, intracellular membrane-bounded organelle, melanosome, endoplasmic reticulum chaperone complex, endoplasmic reticulum chaperone complex, protein-containing complex, midbody, integral component of endoplasmic reticulum membrane, membrane, membrane, cell surface, COP9 signalosome, focal adhesion, plasma membrane, cytosol, endoplasmic reticulum-Golgi intermediate compartment, smooth endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, mitochondrion, cytoplasm, cytoplasm, nucleus, nucleus, nucleus, GO:0051787, GO:0051787, GO:0051087, GO:0051082, GO:0051082, GO:0045296, GO:0044183, GO:0043022, GO:0031625, GO:0031072, GO:0019904, GO:0019899, GO:0016887, GO:0016887, GO:0016887, GO:0005524, GO:0005524, GO:0005515, GO:0005509, misfolded protein binding, misfolded protein binding, chaperone binding, unfolded protein binding, unfolded protein binding, cadherin binding, protein folding chaperone, ribosome binding, ubiquitin protein ligase binding, heat shock protein binding, protein domain specific binding, enzyme binding, ATPase activity, ATPase activity, ATPase activity, ATP binding, ATP binding, protein binding, calcium ion binding, GO:1990440, GO:1990090, GO:1904313, GO:1903897, GO:1903895, GO:1903894, GO:1903891, GO:1901998, GO:0097501, GO:0071480, GO:0071353, GO:0071320, GO:0071287, GO:0071277, GO:0071236, GO:0060904, GO:0051402, GO:0051085, GO:0043066, GO:0043066, GO:0042220, GO:0042149, GO:0042026, GO:0036500, GO:0036499, GO:0036498, GO:0035690, GO:0035437, GO:0034975, GO:0034620, GO:0031398, GO:0031333, GO:0031204, GO:0030968, GO:0030968, GO:0030512, GO:0030433, GO:0030433, GO:0030335, GO:0030182, GO:0021762, GO:0021680, GO:0021589, GO:0010976, GO:0006983, GO:0001554, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, cellular response to nerve growth factor stimulus, response to methamphetamine hydrochloride, regulation of PERK-mediated unfolded protein response, negative regulation of IRE1-mediated unfolded protein response, regulation of IRE1-mediated unfolded protein response, regulation of ATF6-mediated unfolded protein response, toxin transport, stress response to metal ion, cellular response to gamma radiation, cellular response to interleukin-4, cellular response to cAMP, cellular response to manganese ion, cellular response to calcium ion, cellular response to antibiotic, regulation of protein folding in endoplasmic reticulum, neuron apoptotic process, chaperone cofactor-dependent protein refolding, negative regulation of apoptotic process, negative regulation of apoptotic process, response to cocaine, cellular response to glucose starvation, protein refolding, ATF6-mediated unfolded protein response, PERK-mediated unfolded protein response, IRE1-mediated unfolded protein response, cellular response to drug, maintenance of protein localization in endoplasmic reticulum, protein folding in endoplasmic reticulum, cellular response to unfolded protein, positive regulation of protein ubiquitination, negative regulation of protein-containing complex assembly, posttranslational protein targeting to membrane, translocation, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, negative regulation of transforming growth factor beta receptor signaling pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, positive regulation of cell migration, neuron differentiation, substantia nigra development, cerebellar Purkinje cell layer development, cerebellum structural organization, positive regulation of neuron projection development, ER overload response, luteolysis, 5500 4784 10778 3449 4275 8725 3817 4222 8136 ENSG00000046604 chr18 31498043 31549008 + DSG2 protein_coding This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]. 1829 GO:0070062, GO:0043231, GO:0030057, GO:0030057, GO:0030054, GO:0016328, GO:0016324, GO:0016021, GO:0014704, GO:0009986, GO:0005911, GO:0005886, GO:0005886, GO:0001533, extracellular exosome, intracellular membrane-bounded organelle, desmosome, desmosome, cell junction, lateral plasma membrane, apical plasma membrane, integral component of membrane, intercalated disc, cell surface, cell-cell junction, plasma membrane, plasma membrane, cornified envelope, GO:0086083, GO:0050839, GO:0005509, cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication, cell adhesion molecule binding, calcium ion binding, GO:0098911, GO:0098609, GO:0086091, GO:0086073, GO:0070268, GO:0060135, GO:0032570, GO:0031424, GO:0007156, GO:0007155, GO:0003165, GO:0002934, regulation of ventricular cardiac muscle cell action potential, cell-cell adhesion, regulation of heart rate by cardiac conduction, bundle of His cell-Purkinje myocyte adhesion involved in cell communication, cornification, maternal process involved in female pregnancy, response to progesterone, keratinization, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, Purkinje myocyte development, desmosome organization, 0 0 0 0 0 0 0 0 5 ENSG00000046647 chrX 14008279 14029893 - GEMIN8 protein_coding The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]. 54960 GO:0097504, GO:0034719, GO:0032797, GO:0032797, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, Gemini of coiled bodies, SMN-Sm protein complex, SMN complex, SMN complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0051170, GO:0000387, GO:0000387, GO:0000387, import into nucleus, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 17 14 11 43 10 31 31 21 7 ENSG00000046651 chrX 13734745 13769353 + OFD1 protein_coding This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]. 8481 GO:0036064, GO:0036064, GO:0034451, GO:0031514, GO:0016020, GO:0005929, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005634, GO:0005576, ciliary basal body, ciliary basal body, centriolar satellite, motile cilium, membrane, cilium, cytosol, centriole, centrosome, centrosome, nucleus, extracellular region, GO:0043015, GO:0043014, GO:0042802, GO:0005515, gamma-tubulin binding, alpha-tubulin binding, identical protein binding, protein binding, GO:0097711, GO:0090307, GO:0060287, GO:0060271, GO:0060271, GO:0010389, GO:0007099, GO:0000278, GO:0000086, ciliary basal body-plasma membrane docking, mitotic spindle assembly, epithelial cilium movement involved in determination of left/right asymmetry, cilium assembly, cilium assembly, regulation of G2/M transition of mitotic cell cycle, centriole replication, mitotic cell cycle, G2/M transition of mitotic cell cycle, 241 252 451 404 329 518 429 218 423 ENSG00000046653 chrX 13771031 13938638 - GPM6B protein_coding This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]. 2824 GO:0045121, GO:0045121, GO:0016021, GO:0005886, GO:0005886, membrane raft, membrane raft, integral component of membrane, plasma membrane, plasma membrane, GO:0003674, molecular_function, GO:2000009, GO:0085029, GO:0051893, GO:0051612, GO:0051612, GO:0032956, GO:0031175, GO:0030501, GO:0015031, GO:0007399, GO:0001503, negative regulation of protein localization to cell surface, extracellular matrix assembly, regulation of focal adhesion assembly, negative regulation of serotonin uptake, negative regulation of serotonin uptake, regulation of actin cytoskeleton organization, neuron projection development, positive regulation of bone mineralization, protein transport, nervous system development, ossification, 30 35 51 33 19 41 44 14 14 ENSG00000046774 chrX 142202345 142205290 - MAGEC2 protein_coding This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009]. 51438 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0051443, GO:0044257, positive regulation of ubiquitin-protein transferase activity, cellular protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000046889 chr8 67952118 68237030 + PREX2 protein_coding The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]. 80243 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0005096, GO:0005085, GO:0005085, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0048813, GO:0043547, GO:0014065, GO:0008344, GO:0007186, GO:0007186, dendrite morphogenesis, positive regulation of GTPase activity, phosphatidylinositol 3-kinase signaling, adult locomotory behavior, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000047056 chr10 1049538 1132384 + WDR37 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]. 22884 GO:0030687, GO:0005737, GO:0005634, preribosome, large subunit precursor, cytoplasm, nucleus, 351 415 411 377 534 490 354 344 421 ENSG00000047188 chr5 113513683 113595285 + YTHDC2 protein_coding This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]. 64848 GO:0035770, GO:0005783, GO:0005783, GO:0005634, GO:0005622, ribonucleoprotein granule, endoplasmic reticulum, endoplasmic reticulum, nucleus, intracellular anatomical structure, GO:1990247, GO:0070063, GO:0034458, GO:0008186, GO:0005524, GO:0005515, GO:0003723, GO:0003723, N6-methyladenosine-containing RNA binding, RNA polymerase binding, 3'-5' RNA helicase activity, RNA-dependent ATPase activity, ATP binding, protein binding, RNA binding, RNA binding, GO:0070555, GO:0051729, GO:0051321, GO:0048599, GO:0044829, GO:0034612, GO:0007286, response to interleukin-1, germline cell cycle switching, mitotic to meiotic cell cycle, meiotic cell cycle, oocyte development, positive regulation by host of viral genome replication, response to tumor necrosis factor, spermatid development, 180 151 364 207 128 286 207 110 205 ENSG00000047230 chrX 16588003 16712936 - CTPS2 protein_coding The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 56474 GO:0097268, GO:0005829, GO:0005737, cytoophidium, cytosol, cytoplasm, GO:0042802, GO:0042802, GO:0005524, GO:0005515, GO:0003883, identical protein binding, identical protein binding, ATP binding, protein binding, CTP synthase activity, GO:0044210, GO:0019856, GO:0015949, GO:0006541, GO:0006241, GO:0006220, 'de novo' CTP biosynthetic process, pyrimidine nucleobase biosynthetic process, nucleobase-containing small molecule interconversion, glutamine metabolic process, CTP biosynthetic process, pyrimidine nucleotide metabolic process, 9 7 14 16 9 10 15 6 9 ENSG00000047249 chr8 53715557 53843558 - ATP6V1H protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 51606 GO:0070062, GO:0005886, GO:0005829, GO:0005765, GO:0000221, extracellular exosome, plasma membrane, cytosol, lysosomal membrane, vacuolar proton-transporting V-type ATPase, V1 domain, GO:0046961, GO:0030234, GO:0016887, GO:0005515, proton-transporting ATPase activity, rotational mechanism, enzyme regulator activity, ATPase activity, protein binding, GO:1902600, GO:0090383, GO:0050790, GO:0050690, GO:0034220, GO:0033572, GO:0016241, GO:0008286, GO:0007035, GO:0006897, proton transmembrane transport, phagosome acidification, regulation of catalytic activity, regulation of defense response to virus by virus, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, vacuolar acidification, endocytosis, 117 105 128 76 94 122 97 86 83 ENSG00000047315 chr4 56977722 57031168 + POLR2B protein_coding This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 5431 GO:0016020, GO:0005665, GO:0005665, GO:0005654, GO:0005654, GO:0005634, GO:0000781, membrane, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0046872, GO:0032549, GO:0005515, GO:0003899, GO:0003723, GO:0003682, GO:0003677, metal ion binding, ribonucleoside binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, RNA binding, chromatin binding, DNA binding, GO:0060964, GO:0050434, GO:0042795, GO:0035019, GO:0016070, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006351, GO:0006283, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, RNA metabolic process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, 746 650 809 674 855 808 656 540 580 ENSG00000047346 chr15 52581317 52709817 - FAM214A protein_coding 56204 GO:0005515, protein binding, 973 1026 1412 670 1088 1070 857 737 833 ENSG00000047365 chr4 35948221 36244509 - ARAP2 protein_coding The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]. 116984 GO:0005829, cytosol, GO:0046872, GO:0005547, GO:0005096, metal ion binding, phosphatidylinositol-3,4,5-trisphosphate binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 327 329 595 504 393 746 542 267 508 ENSG00000047410 chr1 186311652 186375693 - TPR protein_coding This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]. 7175 GO:0072686, GO:0044615, GO:0043657, GO:0042405, GO:0034399, GO:0031965, GO:0019898, GO:0005868, GO:0005737, GO:0005654, GO:0005643, GO:0005643, GO:0005635, GO:0005634, GO:0000776, GO:0000776, mitotic spindle, nuclear pore nuclear basket, host cell, nuclear inclusion body, nuclear periphery, nuclear membrane, extrinsic component of membrane, cytoplasmic dynein complex, cytoplasm, nucleoplasm, nuclear pore, nuclear pore, nuclear envelope, nucleus, kinetochore, kinetochore, GO:0070840, GO:0051019, GO:0043495, GO:0042803, GO:0031072, GO:0017056, GO:0017056, GO:0015631, GO:0005515, GO:0003729, GO:0003723, GO:0003682, dynein complex binding, mitogen-activated protein kinase binding, protein-membrane adaptor activity, protein homodimerization activity, heat shock protein binding, structural constituent of nuclear pore, structural constituent of nuclear pore, tubulin binding, protein binding, mRNA binding, RNA binding, chromatin binding, GO:1901673, GO:1901673, GO:1900034, GO:0090316, GO:0090267, GO:0075733, GO:0070849, GO:0060964, GO:0051301, GO:0051292, GO:0046832, GO:0046832, GO:0046827, GO:0046825, GO:0045947, GO:0043578, GO:0042307, GO:0042306, GO:0035457, GO:0034605, GO:0032880, GO:0031990, GO:0031647, GO:0031453, GO:0019083, GO:0016925, GO:0016032, GO:0010965, GO:0010793, GO:0007094, GO:0006999, GO:0006999, GO:0006611, GO:0006606, GO:0006606, GO:0006606, GO:0006409, GO:0006406, GO:0006406, GO:0006405, GO:0006404, GO:0006110, GO:0000122, regulation of mitotic spindle assembly, regulation of mitotic spindle assembly, regulation of cellular response to heat, positive regulation of intracellular protein transport, positive regulation of mitotic cell cycle spindle assembly checkpoint, intracellular transport of virus, response to epidermal growth factor, regulation of gene silencing by miRNA, cell division, nuclear pore complex assembly, negative regulation of RNA export from nucleus, negative regulation of RNA export from nucleus, positive regulation of protein export from nucleus, regulation of protein export from nucleus, negative regulation of translational initiation, nuclear matrix organization, positive regulation of protein import into nucleus, regulation of protein import into nucleus, cellular response to interferon-alpha, cellular response to heat, regulation of protein localization, mRNA export from nucleus in response to heat stress, regulation of protein stability, positive regulation of heterochromatin assembly, viral transcription, protein sumoylation, viral process, regulation of mitotic sister chromatid separation, regulation of mRNA export from nucleus, mitotic spindle assembly checkpoint, nuclear pore organization, nuclear pore organization, protein export from nucleus, protein import into nucleus, protein import into nucleus, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, RNA import into nucleus, regulation of glycolytic process, negative regulation of transcription by RNA polymerase II, 5593 4760 6642 2337 2898 3648 2625 2234 2881 ENSG00000047457 chr3 149162410 149222055 - CP protein_coding The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]. 1356 GO:0072562, GO:0070062, GO:0005886, GO:0005788, GO:0005765, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, plasma membrane, endoplasmic reticulum lumen, lysosomal membrane, extracellular space, extracellular space, extracellular region, extracellular region, GO:0051087, GO:0016491, GO:0005507, GO:0004322, GO:0004322, chaperone binding, oxidoreductase activity, copper ion binding, ferroxidase activity, ferroxidase activity, GO:0055114, GO:0055072, GO:0044267, GO:0043687, GO:0006879, GO:0006826, GO:0006825, oxidation-reduction process, iron ion homeostasis, cellular protein metabolic process, post-translational protein modification, cellular iron ion homeostasis, iron ion transport, copper ion transport, 25 40 19 22 35 33 37 24 20 ENSG00000047578 chr16 27550133 27780369 + KIAA0556 protein_coding This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]. 23247 GO:0042995, GO:0005856, GO:0005737, GO:0005615, cell projection, cytoskeleton, cytoplasm, extracellular space, 902 832 892 794 1057 997 1025 753 742 ENSG00000047579 chr6 15522801 15663058 - DTNBP1 protein_coding This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 84062 GO:1904115, GO:0045211, GO:0043197, GO:0043005, GO:0043005, GO:0042383, GO:0033162, GO:0031083, GO:0031083, GO:0030672, GO:0030672, GO:0030672, GO:0030496, GO:0030426, GO:0030424, GO:0016528, GO:0015630, GO:0014069, GO:0010008, GO:0005886, GO:0005829, GO:0005789, GO:0005737, GO:0005634, axon cytoplasm, postsynaptic membrane, dendritic spine, neuron projection, neuron projection, sarcolemma, melanosome membrane, BLOC-1 complex, BLOC-1 complex, synaptic vesicle membrane, synaptic vesicle membrane, synaptic vesicle membrane, midbody, growth cone, axon, sarcoplasm, microtubule cytoskeleton, postsynaptic density, endosome membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, nucleus, GO:0005515, protein binding, GO:2000300, GO:0071901, GO:0060159, GO:0060155, GO:0048813, GO:0048812, GO:0048490, GO:0048490, GO:0043506, GO:0032438, GO:0032091, GO:0031532, GO:0031175, GO:0031175, GO:0014059, GO:0010628, GO:0008089, GO:0007596, GO:0006469, GO:0001956, regulation of synaptic vesicle exocytosis, negative regulation of protein serine/threonine kinase activity, regulation of dopamine receptor signaling pathway, platelet dense granule organization, dendrite morphogenesis, neuron projection morphogenesis, anterograde synaptic vesicle transport, anterograde synaptic vesicle transport, regulation of JUN kinase activity, melanosome organization, negative regulation of protein binding, actin cytoskeleton reorganization, neuron projection development, neuron projection development, regulation of dopamine secretion, positive regulation of gene expression, anterograde axonal transport, blood coagulation, negative regulation of protein kinase activity, positive regulation of neurotransmitter secretion, 78 61 80 69 89 100 90 86 52 ENSG00000047597 chrX 37685756 37732130 + XK protein_coding This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]. 7504 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0005215, protein binding, transporter activity, GO:0048741, GO:0042552, GO:0031133, GO:0010961, GO:0008361, GO:0006874, GO:0006865, skeletal muscle fiber development, myelination, regulation of axon diameter, cellular magnesium ion homeostasis, regulation of cell size, cellular calcium ion homeostasis, amino acid transport, 3 10 22 6 1 1 0 1 0 ENSG00000047617 chr12 5531869 5946232 - ANO2 protein_coding ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]. 57101 GO:0097730, GO:0034707, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005654, non-motile cilium, chloride channel complex, plasma membrane, plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0046983, GO:0042802, GO:0005515, GO:0005254, GO:0005229, GO:0005229, protein dimerization activity, identical protein binding, protein binding, chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0055085, GO:0034220, chloride transmembrane transport, transmembrane transport, ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000047621 chr12 4487728 4538508 - C12orf4 protein_coding This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]. 57102 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0043304, GO:0043304, regulation of mast cell degranulation, regulation of mast cell degranulation, 35 28 36 31 48 50 39 36 63 ENSG00000047634 chrX 17737449 17754988 + SCML1 protein_coding 6322 GO:0005634, nucleus, GO:0042393, GO:0003682, histone binding, chromatin binding, GO:0045892, negative regulation of transcription, DNA-templated, 204 242 146 531 561 453 685 350 215 ENSG00000047644 chrX 10015562 10144478 + WWC3 protein_coding This gene encodes a member of the WWC family of proteins, which also includes the WWC1 (KIBRA) gene product and the WWC2 gene product. The protein encoded by this gene includes a C2 domain, which is known to mediate homodimerization in the related WWC1 gene product. [provided by RefSeq, Sep 2011]. 55841 GO:0005829, cytosol, GO:0060090, GO:0019900, molecular adaptor activity, kinase binding, GO:0046621, GO:0035331, GO:0000122, negative regulation of organ growth, negative regulation of hippo signaling, negative regulation of transcription by RNA polymerase II, 2749 3031 4048 1814 2972 3109 2387 2284 2913 ENSG00000047648 chrX 11137543 11665701 - ARHGAP6 protein_coding This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 395 GO:0015629, GO:0005884, GO:0005829, GO:0005829, GO:0005737, actin cytoskeleton, actin filament, cytosol, cytosol, cytoplasm, GO:0043274, GO:0017124, GO:0016004, GO:0005096, phospholipase binding, SH3 domain binding, phospholipase activator activity, GTPase activator activity, GO:0051895, GO:0051497, GO:0051056, GO:0048041, GO:0043547, GO:0030041, GO:0007266, GO:0007202, negative regulation of focal adhesion assembly, negative regulation of stress fiber assembly, regulation of small GTPase mediated signal transduction, focal adhesion assembly, positive regulation of GTPase activity, actin filament polymerization, Rho protein signal transduction, activation of phospholipase C activity, 4 4 7 0 4 8 1 1 4 ENSG00000047662 chr4 17629306 17781512 - FAM184B protein_coding 27146 345 428 472 356 497 479 329 330 287 ENSG00000047849 chr3 47850690 48089272 - MAP4 protein_coding The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 4134 GO:0072686, GO:0043005, GO:0030424, GO:0015630, GO:0014069, GO:0005930, GO:0005886, GO:0005875, GO:0005874, GO:0005829, mitotic spindle, neuron projection, axon, microtubule cytoskeleton, postsynaptic density, axoneme, plasma membrane, microtubule associated complex, microtubule, cytosol, GO:0008017, GO:0005515, GO:0005198, GO:0003723, microtubule binding, protein binding, structural molecule activity, RNA binding, GO:1902856, GO:0051301, GO:0051294, GO:0051294, GO:0051012, GO:0031175, GO:0007052, GO:0000226, GO:0000226, negative regulation of non-motile cilium assembly, cell division, establishment of spindle orientation, establishment of spindle orientation, microtubule sliding, neuron projection development, mitotic spindle organization, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 155 112 218 286 136 333 251 96 237 ENSG00000047932 chr6 117560269 117602542 - GOPC protein_coding This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 57120 GO:0032991, GO:0030660, GO:0030425, GO:0030140, GO:0030140, GO:0030140, GO:0016020, GO:0016020, GO:0014069, GO:0005886, GO:0005886, GO:0005794, GO:0005794, GO:0005765, GO:0005737, GO:0000139, protein-containing complex, Golgi-associated vesicle membrane, dendrite, trans-Golgi network transport vesicle, trans-Golgi network transport vesicle, trans-Golgi network transport vesicle, membrane, membrane, postsynaptic density, plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, lysosomal membrane, cytoplasm, Golgi membrane, GO:0044325, GO:0044325, GO:0042802, GO:0005515, ion channel binding, ion channel binding, identical protein binding, protein binding, GO:2000009, GO:2000009, GO:0045176, GO:0043004, GO:0043004, GO:0015031, GO:0010360, GO:0006893, GO:0006888, negative regulation of protein localization to cell surface, negative regulation of protein localization to cell surface, apical protein localization, cytoplasmic sequestering of CFTR protein, cytoplasmic sequestering of CFTR protein, protein transport, negative regulation of anion channel activity, Golgi to plasma membrane transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 102 105 161 169 133 153 138 110 139 ENSG00000047936 chr6 117288300 117425855 - ROS1 protein_coding This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008]. 6098 GO:0048471, GO:0043235, GO:0016020, GO:0009986, GO:0005887, perinuclear region of cytoplasm, receptor complex, membrane, cell surface, integral component of plasma membrane, GO:0019903, GO:0005524, GO:0005515, GO:0004714, GO:0004713, protein phosphatase binding, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0070372, GO:0038083, GO:0033674, GO:0032006, GO:0032006, GO:0030154, GO:0023014, GO:0010966, GO:0010629, GO:0007283, GO:0007275, GO:0007169, GO:0006468, GO:0002066, GO:0001558, regulation of ERK1 and ERK2 cascade, peptidyl-tyrosine autophosphorylation, positive regulation of kinase activity, regulation of TOR signaling, regulation of TOR signaling, cell differentiation, signal transduction by protein phosphorylation, regulation of phosphate transport, negative regulation of gene expression, spermatogenesis, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, protein phosphorylation, columnar/cuboidal epithelial cell development, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000048028 chr11 113797874 113875570 - USP28 protein_coding The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]. 57646 GO:0032991, GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0005634, protein-containing complex, nuclear body, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042771, GO:0034644, GO:0031647, GO:0016579, GO:0016579, GO:0016579, GO:0016579, GO:0010212, GO:0008283, GO:0007265, GO:0006974, GO:0006511, GO:0006281, GO:0000077, GO:0000077, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, cellular response to UV, regulation of protein stability, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, response to ionizing radiation, cell population proliferation, Ras protein signal transduction, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, DNA repair, DNA damage checkpoint, DNA damage checkpoint, 44 58 109 90 83 157 109 56 132 ENSG00000048052 chr7 18086949 19002416 + HDAC9 protein_coding Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]. 9734 GO:0035097, GO:0005737, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0000118, histone methyltransferase complex, cytoplasm, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, histone deacetylase complex, GO:0070491, GO:0070491, GO:0070491, GO:0046872, GO:0042826, GO:0034739, GO:0033558, GO:0032041, GO:0008134, GO:0008134, GO:0005515, GO:0005080, GO:0004407, GO:0003714, repressing transcription factor binding, repressing transcription factor binding, repressing transcription factor binding, metal ion binding, histone deacetylase binding, histone deacetylase activity (H4-K16 specific), protein deacetylase activity, NAD-dependent histone deacetylase activity (H3-K14 specific), transcription factor binding, transcription factor binding, protein binding, protein kinase C binding, histone deacetylase activity, transcription corepressor activity, GO:1990678, GO:0090050, GO:0070933, GO:0070932, GO:0051153, GO:0051005, GO:0048742, GO:0045892, GO:0042632, GO:0042113, GO:0034983, GO:0032869, GO:0030183, GO:0030182, GO:0016575, GO:0007507, GO:0006954, GO:0001975, GO:0001818, GO:0000122, histone H4-K16 deacetylation, positive regulation of cell migration involved in sprouting angiogenesis, histone H4 deacetylation, histone H3 deacetylation, regulation of striated muscle cell differentiation, negative regulation of lipoprotein lipase activity, regulation of skeletal muscle fiber development, negative regulation of transcription, DNA-templated, cholesterol homeostasis, B cell activation, peptidyl-lysine deacetylation, cellular response to insulin stimulus, B cell differentiation, neuron differentiation, histone deacetylation, heart development, inflammatory response, response to amphetamine, negative regulation of cytokine production, negative regulation of transcription by RNA polymerase II, 91 78 98 43 48 56 56 41 54 ENSG00000048140 chr5 176647387 176659054 + TSPAN17 protein_coding This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]. 26262 GO:0005887, GO:0000151, integral component of plasma membrane, ubiquitin ligase complex, GO:0019899, GO:0004842, enzyme binding, ubiquitin-protein transferase activity, GO:0072659, GO:0072594, GO:0051604, GO:0016567, protein localization to plasma membrane, establishment of protein localization to organelle, protein maturation, protein ubiquitination, 26 25 49 42 21 52 61 33 90 ENSG00000048162 chr5 176383938 176388975 - NOP16 protein_coding This gene encodes a protein that is localized to the nucleolus. Expression of this gene is induced by estrogens and Myc protein and is a marker of poor patient survival in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 51491 GO:0043231, GO:0005730, GO:0005730, GO:0005654, intracellular membrane-bounded organelle, nucleolus, nucleolus, nucleoplasm, GO:0003723, RNA binding, GO:0042273, ribosomal large subunit biogenesis, 68 82 103 122 116 171 116 115 146 ENSG00000048342 chr4 15469865 15601557 + CC2D2A protein_coding This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 57545 GO:0036038, GO:0035869, GO:0005856, GO:0005829, MKS complex, ciliary transition zone, cytoskeleton, cytosol, GO:1990403, GO:1905515, GO:1904491, GO:0097711, GO:0060271, GO:0044458, GO:0043010, GO:0035082, GO:0007507, GO:0007368, GO:0007224, GO:0001843, GO:0001822, embryonic brain development, non-motile cilium assembly, protein localization to ciliary transition zone, ciliary basal body-plasma membrane docking, cilium assembly, motile cilium assembly, camera-type eye development, axoneme assembly, heart development, determination of left/right symmetry, smoothened signaling pathway, neural tube closure, kidney development, 127 122 59 69 143 77 197 123 43 ENSG00000048392 chr8 102204502 102239118 - RRM2B protein_coding This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]. 50484 GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005654, cytosol, cytosol, cytosol, mitochondrion, nucleoplasm, GO:0046872, GO:0042802, GO:0005515, GO:0004748, metal ion binding, identical protein binding, protein binding, ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor, GO:1902254, GO:0055114, GO:0015949, GO:0014075, GO:0009263, GO:0009200, GO:0006979, GO:0006281, GO:0006264, GO:0003014, GO:0001822, negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator, oxidation-reduction process, nucleobase-containing small molecule interconversion, response to amine, deoxyribonucleotide biosynthetic process, deoxyribonucleoside triphosphate metabolic process, response to oxidative stress, DNA repair, mitochondrial DNA replication, renal system process, kidney development, 836 1050 1336 414 859 619 523 628 549 ENSG00000048405 chr7 127346790 127431924 - ZNF800 protein_coding 168850 GO:0005634, nucleus, GO:0046872, GO:0003677, metal ion binding, DNA binding, 520 489 660 582 465 749 542 320 606 ENSG00000048462 chr16 11965107 11968068 + TNFRSF17 protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]. 608 GO:0016021, GO:0012505, GO:0005886, integral component of membrane, endomembrane system, plasma membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0033209, GO:0007275, GO:0007165, GO:0002260, GO:0002250, tumor necrosis factor-mediated signaling pathway, multicellular organism development, signal transduction, lymphocyte homeostasis, adaptive immune response, 0 0 0 1 0 1 3 1 0 ENSG00000048471 chr16 11976737 12574289 + SNX29 protein_coding 92017 GO:0035091, phosphatidylinositol binding, 128 166 234 124 121 160 118 128 166 ENSG00000048540 chr12 16548373 16610594 - LMO3 protein_coding The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]. 55885 GO:0005737, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:2000324, GO:0070373, GO:0045600, GO:0035360, positive regulation of glucocorticoid receptor signaling pathway, negative regulation of ERK1 and ERK2 cascade, positive regulation of fat cell differentiation, positive regulation of peroxisome proliferator activated receptor signaling pathway, 1 0 0 0 0 0 1 0 0 ENSG00000048544 chr6 42206801 42217865 - MRPS10 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]. 55173 GO:0005763, GO:0005743, GO:0005739, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003674, molecular_function, GO:0070126, GO:0070125, GO:0008150, mitochondrial translational termination, mitochondrial translational elongation, biological_process, 93 114 111 86 67 69 84 85 87 ENSG00000048545 chr6 42155406 42180056 + GUCA1A protein_coding This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. provided by RefSeq, Jul 2020]. 2978 GO:0120199, GO:0097381, GO:0001917, cone photoreceptor outer segment, photoreceptor disc membrane, photoreceptor inner segment, GO:0030249, GO:0030249, GO:0008048, GO:0005515, GO:0005509, guanylate cyclase regulator activity, guanylate cyclase regulator activity, calcium sensitive guanylate cyclase activator activity, protein binding, calcium ion binding, GO:0071277, GO:0031284, GO:0022400, GO:0010753, GO:0007602, GO:0007601, GO:0007165, cellular response to calcium ion, positive regulation of guanylate cyclase activity, regulation of rhodopsin mediated signaling pathway, positive regulation of cGMP-mediated signaling, phototransduction, visual perception, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000048649 chr11 77659996 77821017 - RSF1 protein_coding This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011]. 51773 GO:0031213, GO:0031213, GO:0005654, GO:0005654, GO:0005634, GO:0000785, RSF complex, RSF complex, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0042393, GO:0042393, GO:0016887, GO:0005515, GO:0003712, metal ion binding, histone binding, histone binding, ATPase activity, protein binding, transcription coregulator activity, GO:0050434, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0043392, GO:0034080, GO:0016584, GO:0006352, GO:0006338, GO:0006334, positive regulation of viral transcription, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of DNA binding, CENP-A containing nucleosome assembly, nucleosome positioning, DNA-templated transcription, initiation, chromatin remodeling, nucleosome assembly, 869 910 1035 566 662 553 507 503 521 ENSG00000048707 chr1 12230030 12512047 + VPS13D protein_coding This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]. 55187 GO:0070062, GO:0019898, extracellular exosome, extrinsic component of membrane, GO:1901526, GO:0045053, GO:0007005, GO:0007005, GO:0006623, positive regulation of mitophagy, protein retention in Golgi apparatus, mitochondrion organization, mitochondrion organization, protein targeting to vacuole, 825 831 1036 515 519 725 624 442 583 ENSG00000048740 chr10 10798397 11336675 + CELF2 protein_coding Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 10659 GO:1990904, GO:0005737, GO:0005634, GO:0005634, ribonucleoprotein complex, cytoplasm, nucleus, nucleus, GO:0036002, GO:0003730, GO:0003729, GO:0003723, GO:0003723, pre-mRNA binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, RNA binding, GO:0008016, GO:0006396, GO:0006376, GO:0006376, GO:0000381, regulation of heart contraction, RNA processing, mRNA splice site selection, mRNA splice site selection, regulation of alternative mRNA splicing, via spliceosome, 6717 7816 8644 4770 7634 7993 5861 5750 6783 ENSG00000048828 chr9 93451722 93566107 + FAM120A protein_coding 23196 GO:0016020, GO:0005886, GO:0005829, GO:0005634, membrane, plasma membrane, cytosol, nucleus, GO:0003723, RNA binding, 2740 2916 3403 1777 2729 2868 2321 2043 2582 ENSG00000048991 chr2 135531455 135725270 + R3HDM1 protein_coding 23518 GO:0003723, RNA binding, 59 68 85 130 69 132 69 47 84 ENSG00000049089 chr1 40300487 40317813 - COL9A2 protein_coding This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]. 1298 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005594, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type IX trimer, extracellular region, GO:0030020, GO:0030020, GO:0005515, GO:0005201, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0030198, GO:0030198, GO:0001501, extracellular matrix organization, extracellular matrix organization, skeletal system development, 197 369 411 187 286 256 210 261 260 ENSG00000049130 chr12 88492793 88580851 - KITLG protein_coding This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 4254 GO:0030175, GO:0030027, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005737, GO:0005615, GO:0005576, filopodium, lamellipodium, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005173, GO:0005125, growth factor activity, protein binding, stem cell factor receptor binding, cytokine activity, GO:1902035, GO:1901534, GO:0097192, GO:0070668, GO:0051897, GO:0050731, GO:0046579, GO:0045636, GO:0043406, GO:0035234, GO:0035162, GO:0033026, GO:0008584, GO:0008284, GO:0008284, GO:0007155, GO:0002763, GO:0002687, GO:0001755, GO:0001541, GO:0000165, positive regulation of hematopoietic stem cell proliferation, positive regulation of hematopoietic progenitor cell differentiation, extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of mast cell proliferation, positive regulation of protein kinase B signaling, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of Ras protein signal transduction, positive regulation of melanocyte differentiation, positive regulation of MAP kinase activity, ectopic germ cell programmed cell death, embryonic hemopoiesis, negative regulation of mast cell apoptotic process, male gonad development, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell adhesion, positive regulation of myeloid leukocyte differentiation, positive regulation of leukocyte migration, neural crest cell migration, ovarian follicle development, MAPK cascade, 0 0 0 1 0 0 0 0 0 ENSG00000049167 chr5 60873831 60945073 - ERCC8 protein_coding This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]. 1161 GO:0080008, GO:0032991, GO:0031464, GO:0031464, GO:0016363, GO:0005654, GO:0005634, GO:0000109, GO:0000109, Cul4-RING E3 ubiquitin ligase complex, protein-containing complex, Cul4A-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, nuclear matrix, nucleoplasm, nucleus, nucleotide-excision repair complex, nucleotide-excision repair complex, GO:0044877, GO:0008094, GO:0005515, GO:0004842, GO:0004842, GO:0003678, protein-containing complex binding, DNA-dependent ATPase activity, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, DNA helicase activity, GO:0097680, GO:0051865, GO:0045739, GO:0043687, GO:0043161, GO:0043161, GO:0032508, GO:0009411, GO:0006979, GO:0006979, GO:0006974, GO:0006289, GO:0006283, GO:0006283, GO:0006283, GO:0006283, GO:0000209, GO:0000209, GO:0000012, double-strand break repair via classical nonhomologous end joining, protein autoubiquitination, positive regulation of DNA repair, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, DNA duplex unwinding, response to UV, response to oxidative stress, response to oxidative stress, cellular response to DNA damage stimulus, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, protein polyubiquitination, protein polyubiquitination, single strand break repair, 11 8 10 14 13 17 22 10 14 ENSG00000049192 chr5 65148736 65481920 - ADAMTS6 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]. 11174 GO:0031012, extracellular matrix, GO:0046872, GO:0008237, GO:0004222, metal ion binding, metallopeptidase activity, metalloendopeptidase activity, GO:0060976, GO:0035904, GO:0030198, GO:0006508, GO:0003279, GO:0001822, coronary vasculature development, aorta development, extracellular matrix organization, proteolysis, cardiac septum development, kidney development, 1 0 4 3 0 6 2 0 7 ENSG00000049239 chr1 9234775 9271337 + H6PD protein_coding There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]. 9563 GO:0005788, endoplasmic reticulum lumen, GO:0050661, GO:0047936, GO:0017057, GO:0004345, NADP binding, glucose 1-dehydrogenase [NAD(P)] activity, 6-phosphogluconolactonase activity, glucose-6-phosphate dehydrogenase activity, GO:2000064, GO:0009051, GO:0006006, regulation of cortisol biosynthetic process, pentose-phosphate shunt, oxidative branch, glucose metabolic process, 377 358 309 235 255 219 315 204 207 ENSG00000049245 chr1 7771269 7781432 + VAMP3 protein_coding Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]. 9341 GO:0055038, GO:0055037, GO:0048471, GO:0043231, GO:0043005, GO:0032588, GO:0031201, GO:0031201, GO:0030670, GO:0030665, GO:0030285, GO:0030141, GO:0030136, GO:0030133, GO:0016324, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005829, recycling endosome membrane, recycling endosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, neuron projection, trans-Golgi network membrane, SNARE complex, SNARE complex, phagocytic vesicle membrane, clathrin-coated vesicle membrane, integral component of synaptic vesicle membrane, secretory granule, clathrin-coated vesicle, transport vesicle, apical plasma membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0019905, GO:0017075, GO:0005515, GO:0005484, syntaxin binding, syntaxin-1 binding, protein binding, SNAP receptor activity, GO:1903593, GO:1903531, GO:0071346, GO:0070254, GO:0065003, GO:0061025, GO:0061024, GO:0043001, GO:0042147, GO:0035493, GO:0034446, GO:0017156, GO:0016192, GO:0006906, GO:0006904, GO:0006887, GO:0002639, GO:0002479, GO:0001921, regulation of histamine secretion by mast cell, negative regulation of secretion by cell, cellular response to interferon-gamma, mucus secretion, protein-containing complex assembly, membrane fusion, membrane organization, Golgi to plasma membrane protein transport, retrograde transport, endosome to Golgi, SNARE complex assembly, substrate adhesion-dependent cell spreading, calcium-ion regulated exocytosis, vesicle-mediated transport, vesicle fusion, vesicle docking involved in exocytosis, exocytosis, positive regulation of immunoglobulin production, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, positive regulation of receptor recycling, 1475 1327 1531 802 979 1010 970 868 736 ENSG00000049246 chr1 7784320 7845177 + PER3 protein_coding This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]. 8863 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0031625, GO:0019900, GO:0005515, GO:0001222, GO:0000976, ubiquitin protein ligase binding, kinase binding, protein binding, transcription corepressor binding, transcription regulatory region sequence-specific DNA binding, GO:0050821, GO:0045187, GO:0043153, GO:0032922, GO:0000122, GO:0000122, protein stabilization, regulation of circadian sleep/wake cycle, sleep, entrainment of circadian clock by photoperiod, circadian regulation of gene expression, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 29 31 42 467 397 336 361 266 249 ENSG00000049247 chr1 7843083 7853512 - UTS2 protein_coding This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 10911 GO:0045202, GO:0005615, GO:0005576, synapse, extracellular space, extracellular region, GO:0005179, GO:0005102, hormone activity, signaling receptor binding, GO:0097746, GO:0008217, GO:0007268, GO:0007186, GO:0006936, blood vessel diameter maintenance, regulation of blood pressure, chemical synaptic transmission, G protein-coupled receptor signaling pathway, muscle contraction, 99 48 73 74 72 74 79 52 84 ENSG00000049249 chr1 7915894 7943165 - TNFRSF9 protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]. 3604 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0019955, GO:0005515, signaling receptor activity, cytokine binding, protein binding, GO:0042127, GO:0033209, GO:0008285, GO:0006915, regulation of cell population proliferation, tumor necrosis factor-mediated signaling pathway, negative regulation of cell population proliferation, apoptotic process, 263 227 320 121 204 153 163 175 132 ENSG00000049283 chr17 50532543 50543750 + EPN3 protein_coding 55040 GO:0070062, GO:0048471, GO:0043231, GO:0043231, GO:0030136, GO:0030125, GO:0019897, GO:0005905, GO:0005886, GO:0005768, GO:0005654, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, clathrin-coated vesicle, clathrin vesicle coat, extrinsic component of plasma membrane, clathrin-coated pit, plasma membrane, endosome, nucleoplasm, nucleus, GO:1990175, GO:0030276, GO:0005543, GO:0005515, EH domain binding, clathrin binding, phospholipid binding, protein binding, GO:0006897, endocytosis, 0 0 0 0 0 2 2 0 0 ENSG00000049323 chr2 32946972 33399509 + LTBP1 protein_coding The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 4052 GO:0062023, GO:0062023, GO:0062023, GO:0032991, GO:0031012, GO:0031012, GO:0005788, GO:0005576, GO:0005576, GO:0001527, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, protein-containing complex, extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular region, extracellular region, microfibril, GO:0050436, GO:0050436, GO:0050431, GO:0005515, GO:0005509, GO:0005201, GO:0005024, microfibril binding, microfibril binding, transforming growth factor beta binding, protein binding, calcium ion binding, extracellular matrix structural constituent, transforming growth factor beta-activated receptor activity, GO:1901388, GO:0060976, GO:0044267, GO:0043687, GO:0035904, GO:0035583, GO:0035583, GO:0007178, GO:0003281, regulation of transforming growth factor beta activation, coronary vasculature development, cellular protein metabolic process, post-translational protein modification, aorta development, sequestering of TGFbeta in extracellular matrix, sequestering of TGFbeta in extracellular matrix, transmembrane receptor protein serine/threonine kinase signaling pathway, ventricular septum development, 0 4 3 2 4 0 2 1 0 ENSG00000049449 chr11 32090904 32105755 + RCN1 protein_coding Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]. 5954 GO:0005788, GO:0005783, GO:0005783, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0044267, GO:0043687, cellular protein metabolic process, post-translational protein modification, 2 2 11 6 1 17 0 8 12 ENSG00000049540 chr7 74027789 74069907 + ELN protein_coding This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]. 2006 GO:0071953, GO:0062023, GO:0031012, GO:0005576, elastic fiber, collagen-containing extracellular matrix, extracellular matrix, extracellular region, GO:0050840, GO:0030023, GO:0005515, GO:0005201, extracellular matrix binding, extracellular matrix constituent conferring elasticity, protein binding, extracellular matrix structural constituent, GO:0048660, GO:0043149, GO:0030833, GO:0030198, GO:0009887, GO:0008015, GO:0007585, GO:0007519, GO:0003180, GO:0003151, regulation of smooth muscle cell proliferation, stress fiber assembly, regulation of actin filament polymerization, extracellular matrix organization, animal organ morphogenesis, blood circulation, respiratory gaseous exchange by respiratory system, skeletal muscle tissue development, aortic valve morphogenesis, outflow tract morphogenesis, 0 1 4 0 0 0 0 0 3 ENSG00000049541 chr7 74231499 74254458 - RFC2 protein_coding This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]. 5982 GO:0031390, GO:0005663, GO:0005663, GO:0005654, GO:0005634, Ctf18 RFC-like complex, DNA replication factor C complex, DNA replication factor C complex, nucleoplasm, nucleus, GO:0019899, GO:0017116, GO:0005524, GO:0005515, GO:0003689, GO:0003689, enzyme binding, single-stranded DNA helicase activity, ATP binding, protein binding, DNA clamp loader activity, DNA clamp loader activity, GO:1901796, GO:1900264, GO:0070987, GO:0042769, GO:0042276, GO:0033683, GO:0032508, GO:0032201, GO:0019985, GO:0006297, GO:0006296, GO:0006283, GO:0006281, GO:0006261, GO:0006260, regulation of signal transduction by p53 class mediator, positive regulation of DNA-directed DNA polymerase activity, error-free translesion synthesis, DNA damage response, detection of DNA damage, error-prone translesion synthesis, nucleotide-excision repair, DNA incision, DNA duplex unwinding, telomere maintenance via semi-conservative replication, translesion synthesis, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA repair, DNA-dependent DNA replication, DNA replication, 176 129 170 115 129 132 97 135 128 ENSG00000049618 chr6 156776020 157210779 + ARID1B protein_coding This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 57492 GO:0071565, GO:0045202, GO:0035060, GO:0016514, GO:0016514, GO:0005886, GO:0005829, GO:0005654, GO:0005654, nBAF complex, synapse, brahma complex, SWI/SNF complex, SWI/SNF complex, plasma membrane, cytosol, nucleoplasm, nucleoplasm, GO:0031491, GO:0005515, GO:0003713, GO:0003677, nucleosome binding, protein binding, transcription coactivator activity, DNA binding, GO:1904385, GO:0097026, GO:0060996, GO:0048096, GO:0045893, GO:0043044, GO:0007270, GO:0006357, GO:0002931, cellular response to angiotensin, dendritic cell dendrite assembly, dendritic spine development, chromatin-mediated maintenance of transcription, positive regulation of transcription, DNA-templated, ATP-dependent chromatin remodeling, neuron-neuron synaptic transmission, regulation of transcription by RNA polymerase II, response to ischemia, 722 559 865 493 453 755 651 396 557 ENSG00000049656 chr5 1317744 1345099 - CLPTM1L protein_coding The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]. 81037 GO:0016021, GO:0016020, GO:0016020, GO:0012505, integral component of membrane, membrane, membrane, endomembrane system, GO:0005515, protein binding, GO:0006915, apoptotic process, 73 58 59 65 42 38 71 78 48 ENSG00000049759 chr18 58044367 58401540 + NEDD4L protein_coding This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. 23327 GO:0070062, GO:0005886, GO:0005829, GO:0005794, GO:0005771, GO:0005737, GO:0005654, extracellular exosome, plasma membrane, cytosol, Golgi apparatus, multivesicular body, cytoplasm, nucleoplasm, GO:0061630, GO:0044325, GO:0019871, GO:0019871, GO:0019870, GO:0017080, GO:0015459, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, ion channel binding, sodium channel inhibitor activity, sodium channel inhibitor activity, potassium channel inhibitor activity, sodium channel regulator activity, potassium channel regulator activity, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2001288, GO:2000650, GO:2000650, GO:2000009, GO:1903861, GO:1902306, GO:1901380, GO:1901380, GO:1901017, GO:1901016, GO:0086005, GO:0070936, GO:0060306, GO:0048814, GO:0045807, GO:0045732, GO:0043161, GO:0043161, GO:0042391, GO:0042176, GO:0034765, GO:0034220, GO:0031647, GO:0030104, GO:0019058, GO:0016567, GO:0016567, GO:0016567, GO:0016567, GO:0010038, GO:0007588, GO:0006883, GO:0006814, GO:0006511, GO:0003254, GO:0000209, GO:0000209, GO:0000122, positive regulation of caveolin-mediated endocytosis, negative regulation of sodium ion transmembrane transporter activity, negative regulation of sodium ion transmembrane transporter activity, negative regulation of protein localization to cell surface, positive regulation of dendrite extension, negative regulation of sodium ion transmembrane transport, negative regulation of potassium ion transmembrane transport, negative regulation of potassium ion transmembrane transport, negative regulation of potassium ion transmembrane transporter activity, regulation of potassium ion transmembrane transporter activity, ventricular cardiac muscle cell action potential, protein K48-linked ubiquitination, regulation of membrane repolarization, regulation of dendrite morphogenesis, positive regulation of endocytosis, positive regulation of protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of membrane potential, regulation of protein catabolic process, regulation of ion transmembrane transport, ion transmembrane transport, regulation of protein stability, water homeostasis, viral life cycle, protein ubiquitination, protein ubiquitination, protein ubiquitination, protein ubiquitination, response to metal ion, excretion, cellular sodium ion homeostasis, sodium ion transport, ubiquitin-dependent protein catabolic process, regulation of membrane depolarization, protein polyubiquitination, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 6 1 2 11 1 13 9 3 11 ENSG00000049768 chrX 49250436 49264826 - FOXP3 protein_coding The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 50943 GO:0032991, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0051525, GO:0051059, GO:0046872, GO:0043565, GO:0042826, GO:0042803, GO:0042803, GO:0035035, GO:0005515, GO:0003714, GO:0003700, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, NFAT protein binding, NF-kappaB binding, metal ion binding, sequence-specific DNA binding, histone deacetylase binding, protein homodimerization activity, protein homodimerization activity, histone acetyltransferase binding, protein binding, transcription corepressor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000320, GO:0050852, GO:0050777, GO:0048302, GO:0048294, GO:0046007, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045589, GO:0043433, GO:0043029, GO:0042130, GO:0042130, GO:0042110, GO:0035067, GO:0035066, GO:0033092, GO:0032914, GO:0032831, GO:0032792, GO:0032753, GO:0032720, GO:0032715, GO:0032714, GO:0032713, GO:0032703, GO:0032703, GO:0032700, GO:0032693, GO:0032689, GO:0032689, GO:0032088, GO:0031064, GO:0030111, GO:0009615, GO:0008285, GO:0006357, GO:0006355, GO:0006338, GO:0002851, GO:0002725, GO:0002725, GO:0002677, GO:0002669, GO:0002667, GO:0002513, GO:0002456, GO:0002362, GO:0002262, GO:0001818, GO:0001816, GO:0001782, GO:0000122, negative regulation of T-helper 17 cell differentiation, T cell receptor signaling pathway, negative regulation of immune response, regulation of isotype switching to IgG isotypes, negative regulation of isotype switching to IgE isotypes, negative regulation of activated T cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of regulatory T cell differentiation, negative regulation of DNA-binding transcription factor activity, T cell homeostasis, negative regulation of T cell proliferation, negative regulation of T cell proliferation, T cell activation, negative regulation of histone acetylation, positive regulation of histone acetylation, positive regulation of immature T cell proliferation in thymus, positive regulation of transforming growth factor beta1 production, positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation, negative regulation of CREB transcription factor activity, positive regulation of interleukin-4 production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-5 production, negative regulation of interleukin-4 production, negative regulation of interleukin-2 production, negative regulation of interleukin-2 production, negative regulation of interleukin-17 production, negative regulation of interleukin-10 production, negative regulation of interferon-gamma production, negative regulation of interferon-gamma production, negative regulation of NF-kappaB transcription factor activity, negative regulation of histone deacetylation, regulation of Wnt signaling pathway, response to virus, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin remodeling, positive regulation of peripheral T cell tolerance induction, negative regulation of T cell cytokine production, negative regulation of T cell cytokine production, negative regulation of chronic inflammatory response, positive regulation of T cell anergy, regulation of T cell anergy, tolerance induction to self antigen, T cell mediated immunity, CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment, myeloid cell homeostasis, negative regulation of cytokine production, cytokine production, B cell homeostasis, negative regulation of transcription by RNA polymerase II, 2 1 8 5 11 27 19 12 5 ENSG00000049769 chrX 49269843 49301461 + PPP1R3F protein_coding This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 89801 GO:0016021, GO:0016020, GO:0000164, integral component of membrane, membrane, protein phosphatase type 1 complex, GO:2001069, GO:2001069, GO:0019903, GO:0008157, glycogen binding, glycogen binding, protein phosphatase binding, protein phosphatase 1 binding, GO:2000465, GO:0005979, GO:0005979, regulation of glycogen (starch) synthase activity, regulation of glycogen biosynthetic process, regulation of glycogen biosynthetic process, 20 26 24 34 15 28 23 20 31 ENSG00000049860 chr5 74640023 74722647 + HEXB protein_coding Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. 3074 GO:0070062, GO:0043202, GO:0042582, GO:0035578, GO:0016020, GO:0005576, GO:0001669, extracellular exosome, lysosomal lumen, azurophil granule, azurophil granule lumen, membrane, extracellular region, acrosomal vesicle, GO:0102148, GO:0042802, GO:0008375, GO:0005515, GO:0004563, N-acetyl-beta-D-galactosaminidase activity, identical protein binding, acetylglucosaminyltransferase activity, protein binding, beta-N-acetylhexosaminidase activity, GO:0050885, GO:0048477, GO:0045944, GO:0044267, GO:0043615, GO:0043312, GO:0042552, GO:0042340, GO:0030214, GO:0030207, GO:0019915, GO:0009313, GO:0008654, GO:0008360, GO:0008049, GO:0007626, GO:0007605, GO:0007341, GO:0007040, GO:0006874, GO:0006689, GO:0006687, GO:0001501, neuromuscular process controlling balance, oogenesis, positive regulation of transcription by RNA polymerase II, cellular protein metabolic process, astrocyte cell migration, neutrophil degranulation, myelination, keratan sulfate catabolic process, hyaluronan catabolic process, chondroitin sulfate catabolic process, lipid storage, oligosaccharide catabolic process, phospholipid biosynthetic process, regulation of cell shape, male courtship behavior, locomotory behavior, sensory perception of sound, penetration of zona pellucida, lysosome organization, cellular calcium ion homeostasis, ganglioside catabolic process, glycosphingolipid metabolic process, skeletal system development, 648 701 733 1104 1023 896 1028 761 648 ENSG00000049883 chr5 72320367 72368395 + PTCD2 protein_coding 79810 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0055010, GO:0050684, GO:0050684, GO:0048747, GO:0007275, GO:0007005, GO:0006397, GO:0001889, GO:0001822, ventricular cardiac muscle tissue morphogenesis, regulation of mRNA processing, regulation of mRNA processing, muscle fiber development, multicellular organism development, mitochondrion organization, mRNA processing, liver development, kidney development, 8 3 8 28 22 47 22 8 22 ENSG00000050030 chrX 74732856 74925485 - NEXMIF protein_coding An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]. 340533 GO:0072686, GO:0030496, GO:0005829, GO:0005654, GO:0005634, mitotic spindle, midbody, cytosol, nucleoplasm, nucleus, GO:2001223, GO:2000048, GO:0033629, GO:0001953, negative regulation of neuron migration, negative regulation of cell-cell adhesion mediated by cadherin, negative regulation of cell adhesion mediated by integrin, negative regulation of cell-matrix adhesion, 2 0 2 1 3 0 1 0 0 ENSG00000050130 chr14 59484443 59505410 + JKAMP protein_coding 51528 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0031625, GO:0031625, ubiquitin protein ligase binding, ubiquitin protein ligase binding, GO:0030433, GO:0030433, GO:0006986, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, response to unfolded protein, 158 180 158 135 222 192 130 199 171 ENSG00000050165 chr11 11963106 12009769 - DKK3 protein_coding This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 27122 GO:0005615, extracellular space, GO:0048019, GO:0039706, GO:0005515, receptor antagonist activity, co-receptor binding, protein binding, GO:2000272, GO:2000065, GO:1902613, GO:0090090, GO:0090090, GO:0045892, GO:0032348, GO:0030325, GO:0017015, GO:0016055, GO:0009653, negative regulation of signaling receptor activity, negative regulation of cortisol biosynthetic process, negative regulation of anti-Mullerian hormone signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of transcription, DNA-templated, negative regulation of aldosterone biosynthetic process, adrenal gland development, regulation of transforming growth factor beta receptor signaling pathway, Wnt signaling pathway, anatomical structure morphogenesis, 3 0 9 13 4 8 7 3 1 ENSG00000050327 chr7 144355288 144380632 + ARHGEF5 protein_coding Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]. 7984 GO:0071944, GO:0042995, GO:0030054, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0002102, cell periphery, cell projection, cell junction, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, podosome, GO:0008289, GO:0005525, GO:0005515, GO:0005085, GO:0005085, lipid binding, GTP binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1904591, GO:0090630, GO:0071803, GO:0070372, GO:0051496, GO:0051493, GO:0051091, GO:0051056, GO:0043507, GO:0043087, GO:0043065, GO:0035556, GO:0032956, GO:0030036, GO:0007186, GO:0002408, positive regulation of protein import, activation of GTPase activity, positive regulation of podosome assembly, regulation of ERK1 and ERK2 cascade, positive regulation of stress fiber assembly, regulation of cytoskeleton organization, positive regulation of DNA-binding transcription factor activity, regulation of small GTPase mediated signal transduction, positive regulation of JUN kinase activity, regulation of GTPase activity, positive regulation of apoptotic process, intracellular signal transduction, regulation of actin cytoskeleton organization, actin cytoskeleton organization, G protein-coupled receptor signaling pathway, myeloid dendritic cell chemotaxis, 18 13 17 22 6 23 31 4 4 ENSG00000050344 chr7 26152240 26187125 + NFE2L3 protein_coding This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]. 9603 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006366, GO:0006357, GO:0000122, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 59 72 100 157 312 219 123 75 157 ENSG00000050393 chr6 13786557 13814568 - MCUR1 protein_coding 63933 GO:0031305, GO:0031305, GO:0005739, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0070509, GO:0051561, GO:0051561, GO:0036444, GO:0036444, GO:0006851, calcium ion import, positive regulation of mitochondrial calcium ion concentration, positive regulation of mitochondrial calcium ion concentration, calcium import into the mitochondrion, calcium import into the mitochondrion, mitochondrial calcium ion transmembrane transport, 7 10 10 41 27 33 16 13 7 ENSG00000050405 chr12 50175788 50283546 - LIMA1 protein_coding This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]. 51474 GO:0032154, GO:0031526, GO:0015629, GO:0015629, GO:0005925, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0001726, GO:0001725, cleavage furrow, brush border membrane, actin cytoskeleton, actin cytoskeleton, focal adhesion, focal adhesion, plasma membrane, plasma membrane, cytosol, ruffle, stress fiber, GO:0051015, GO:0051015, GO:0046872, GO:0045296, GO:0005515, GO:0003785, actin filament binding, actin filament binding, metal ion binding, cadherin binding, protein binding, actin monomer binding, GO:0051017, GO:0051017, GO:0042632, GO:0031529, GO:0030835, GO:0030299, GO:0016477, GO:0008203, actin filament bundle assembly, actin filament bundle assembly, cholesterol homeostasis, ruffle organization, negative regulation of actin filament depolymerization, intestinal cholesterol absorption, cell migration, cholesterol metabolic process, 12 2 5 47 27 70 33 25 19 ENSG00000050426 chr12 51047962 51060424 + LETMD1 protein_coding This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]. 25875 GO:0016021, GO:0005741, GO:0005739, GO:0005730, GO:0005654, integral component of membrane, mitochondrial outer membrane, mitochondrion, nucleolus, nucleoplasm, GO:0043022, GO:0005515, ribosome binding, protein binding, 56 68 105 149 127 163 128 101 140 ENSG00000050438 chr12 51391317 51515763 + SLC4A8 protein_coding The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 9498 GO:0098978, GO:0098793, GO:0097457, GO:0097386, GO:0043679, GO:0043195, GO:0043005, GO:0042734, GO:0032809, GO:0032280, GO:0032279, GO:0030425, GO:0016021, GO:0016020, GO:0008021, GO:0005886, GO:0005886, GO:0005886, glutamatergic synapse, presynapse, hippocampal mossy fiber, glial cell projection, axon terminus, terminal bouton, neuron projection, presynaptic membrane, neuronal cell body membrane, symmetric synapse, asymmetric synapse, dendrite, integral component of membrane, membrane, synaptic vesicle, plasma membrane, plasma membrane, plasma membrane, GO:0022857, GO:0015301, GO:0015108, GO:0015106, GO:0015081, GO:0008510, GO:0008510, GO:0005452, transmembrane transporter activity, anion:anion antiporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, sodium ion transmembrane transporter activity, sodium:bicarbonate symporter activity, sodium:bicarbonate symporter activity, inorganic anion exchanger activity, GO:2000302, GO:1902476, GO:0150104, GO:0055085, GO:0051453, GO:0051453, GO:0051453, GO:0050804, GO:0050801, GO:0042391, GO:0035725, GO:0015701, GO:0015701, GO:0015701, positive regulation of synaptic vesicle exocytosis, chloride transmembrane transport, transport across blood-brain barrier, transmembrane transport, regulation of intracellular pH, regulation of intracellular pH, regulation of intracellular pH, modulation of chemical synaptic transmission, ion homeostasis, regulation of membrane potential, sodium ion transmembrane transport, bicarbonate transport, bicarbonate transport, bicarbonate transport, 11 36 40 12 13 4 20 13 8 ENSG00000050555 chr9 131009082 131094473 + LAMC3 protein_coding Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]. 10319 GO:0031012, GO:0016020, GO:0005604, GO:0005576, extracellular matrix, membrane, basement membrane, extracellular region, GO:0005198, structural molecule activity, GO:0060041, GO:0034446, GO:0030198, GO:0016477, GO:0014002, GO:0009888, GO:0009887, GO:0007601, retina development in camera-type eye, substrate adhesion-dependent cell spreading, extracellular matrix organization, cell migration, astrocyte development, tissue development, animal organ morphogenesis, visual perception, 0 1 0 1 2 0 1 0 0 ENSG00000050628 chr1 70852353 71047808 - PTGER3 protein_coding The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. 5733 GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005635, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, nuclear envelope, GO:0004957, GO:0004957, prostaglandin E receptor activity, prostaglandin E receptor activity, GO:0060455, GO:0031622, GO:0014827, GO:0008219, GO:0007204, GO:0007200, GO:0007189, GO:0007186, GO:0006954, negative regulation of gastric acid secretion, positive regulation of fever generation, intestine smooth muscle contraction, cell death, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, 6 13 5 16 25 3 11 20 11 ENSG00000050730 chr4 121131408 121227466 - TNIP3 protein_coding 79931 GO:0005829, cytosol, GO:0031593, GO:0031593, GO:0005515, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, protein binding, GO:0071222, GO:0045944, GO:0043124, GO:0034142, GO:0016579, GO:0006954, GO:0002756, cellular response to lipopolysaccharide, positive regulation of transcription by RNA polymerase II, negative regulation of I-kappaB kinase/NF-kappaB signaling, toll-like receptor 4 signaling pathway, protein deubiquitination, inflammatory response, MyD88-independent toll-like receptor signaling pathway, 7 0 9 7 0 12 10 2 18 ENSG00000050748 chr5 180233143 180292099 - MAPK9 protein_coding The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]. 5601 GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0008134, GO:0005524, GO:0005515, GO:0004712, GO:0004707, GO:0004705, GO:0004705, transcription factor binding, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, MAP kinase activity, JUN kinase activity, JUN kinase activity, GO:2001235, GO:1901485, GO:0071803, GO:0071276, GO:0061833, GO:0051090, GO:0048511, GO:0042752, GO:0038095, GO:0035556, GO:0034614, GO:0031398, GO:0018105, GO:0010744, GO:0010628, GO:0010468, GO:0007258, GO:0007254, GO:0007254, GO:0007254, GO:0006468, positive regulation of apoptotic signaling pathway, positive regulation of transcription factor catabolic process, positive regulation of podosome assembly, cellular response to cadmium ion, protein localization to tricellular tight junction, regulation of DNA-binding transcription factor activity, rhythmic process, regulation of circadian rhythm, Fc-epsilon receptor signaling pathway, intracellular signal transduction, cellular response to reactive oxygen species, positive regulation of protein ubiquitination, peptidyl-serine phosphorylation, positive regulation of macrophage derived foam cell differentiation, positive regulation of gene expression, regulation of gene expression, JUN phosphorylation, JNK cascade, JNK cascade, JNK cascade, protein phosphorylation, 74 127 171 121 152 171 120 101 135 ENSG00000050767 chr5 178237618 178590555 - COL23A1 protein_coding COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]. 91522 GO:0062023, GO:0031012, GO:0016021, GO:0005886, GO:0005788, GO:0005615, GO:0005581, collagen-containing extracellular matrix, extracellular matrix, integral component of membrane, plasma membrane, endoplasmic reticulum lumen, extracellular space, collagen trimer, GO:0030020, GO:0005515, GO:0005201, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0030198, extracellular matrix organization, 0 1 0 3 0 0 0 1 4 ENSG00000050820 chr16 75228187 75268053 - BCAR1 protein_coding The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]. 9564 GO:0030424, GO:0030027, GO:0015629, GO:0005925, GO:0005925, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0001726, axon, lamellipodium, actin cytoskeleton, focal adhesion, focal adhesion, focal adhesion, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, ruffle, GO:0019901, GO:0017124, GO:0005515, protein kinase binding, SH3 domain binding, protein binding, GO:0090527, GO:0086100, GO:0060326, GO:0051301, GO:0050853, GO:0050852, GO:0050851, GO:0048012, GO:0048011, GO:0048010, GO:0048010, GO:0048008, GO:0042981, GO:0035729, GO:0030335, GO:0016477, GO:0016477, GO:0010595, GO:0008286, GO:0007229, GO:0007186, GO:0007186, GO:0007173, GO:0007169, GO:0007155, GO:0007015, GO:0001558, actin filament reorganization, endothelin receptor signaling pathway, cell chemotaxis, cell division, B cell receptor signaling pathway, T cell receptor signaling pathway, antigen receptor-mediated signaling pathway, hepatocyte growth factor receptor signaling pathway, neurotrophin TRK receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, platelet-derived growth factor receptor signaling pathway, regulation of apoptotic process, cellular response to hepatocyte growth factor stimulus, positive regulation of cell migration, cell migration, cell migration, positive regulation of endothelial cell migration, insulin receptor signaling pathway, integrin-mediated signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, epidermal growth factor receptor signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, actin filament organization, regulation of cell growth, 0 0 5 0 5 0 0 1 0 ENSG00000051009 chr11 6211335 6234711 - FAM160A2 protein_coding The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]. 84067 GO:0070695, GO:0005829, FHF complex, cytosol, GO:0005515, protein binding, GO:0045022, GO:0015031, GO:0008333, GO:0007040, GO:0007032, early endosome to late endosome transport, protein transport, endosome to lysosome transport, lysosome organization, endosome organization, 570 513 848 260 378 373 292 307 286 ENSG00000051108 chr16 56932048 56944863 + HERPUD1 protein_coding The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]. 9709 GO:1990037, GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0005789, GO:0005783, Lewy body core, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:1990756, GO:0044325, GO:0044325, GO:0005515, GO:0003674, ubiquitin ligase-substrate adaptor activity, ion channel binding, ion channel binding, protein binding, molecular_function, GO:2001243, GO:1903071, GO:1903071, GO:1903069, GO:1902236, GO:1902236, GO:0043154, GO:0036499, GO:0034976, GO:0032469, GO:0032469, GO:0031396, GO:0030970, GO:0030968, GO:0030433, GO:0016567, GO:0006986, GO:0006511, negative regulation of intrinsic apoptotic signaling pathway, positive regulation of ER-associated ubiquitin-dependent protein catabolic process, positive regulation of ER-associated ubiquitin-dependent protein catabolic process, regulation of ER-associated ubiquitin-dependent protein catabolic process, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, PERK-mediated unfolded protein response, response to endoplasmic reticulum stress, endoplasmic reticulum calcium ion homeostasis, endoplasmic reticulum calcium ion homeostasis, regulation of protein ubiquitination, retrograde protein transport, ER to cytosol, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, protein ubiquitination, response to unfolded protein, ubiquitin-dependent protein catabolic process, 724 1078 913 5162 5480 5248 4692 3608 3381 ENSG00000051128 chr19 18929201 18941261 - HOMER3 protein_coding This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]. 9454 GO:0045178, GO:0030425, GO:0014069, GO:0005886, GO:0005829, GO:0005737, GO:0005575, basal part of cell, dendrite, postsynaptic density, plasma membrane, cytosol, cytoplasm, cellular_component, GO:0042802, GO:0035256, GO:0019904, GO:0008022, GO:0005515, identical protein binding, G protein-coupled glutamate receptor binding, protein domain specific binding, protein C-terminus binding, protein binding, GO:2001256, GO:0070885, GO:0032703, GO:0007216, GO:0006605, regulation of store-operated calcium entry, negative regulation of calcineurin-NFAT signaling cascade, negative regulation of interleukin-2 production, G protein-coupled glutamate receptor signaling pathway, protein targeting, 34 49 38 29 56 46 47 38 22 ENSG00000051180 chr15 40694774 40732339 + RAD51 protein_coding The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. 5888 GO:0048471, GO:0035861, GO:0032991, GO:0016605, GO:0005815, GO:0005759, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000800, GO:0000794, GO:0000794, GO:0000793, GO:0000785, GO:0000781, GO:0000228, perinuclear region of cytoplasm, site of double-strand break, protein-containing complex, PML body, microtubule organizing center, mitochondrial matrix, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, lateral element, condensed nuclear chromosome, condensed nuclear chromosome, condensed chromosome, chromatin, chromosome, telomeric region, nuclear chromosome, GO:0070182, GO:0042802, GO:0019899, GO:0017116, GO:0017116, GO:0008094, GO:0008022, GO:0005524, GO:0005515, GO:0003697, GO:0003697, GO:0003697, GO:0003690, GO:0003690, GO:0003690, GO:0003682, GO:0000150, DNA polymerase binding, identical protein binding, enzyme binding, single-stranded DNA helicase activity, single-stranded DNA helicase activity, DNA-dependent ATPase activity, protein C-terminus binding, ATP binding, protein binding, single-stranded DNA binding, single-stranded DNA binding, single-stranded DNA binding, double-stranded DNA binding, double-stranded DNA binding, double-stranded DNA binding, chromatin binding, recombinase activity, GO:1990426, GO:1990414, GO:1904631, GO:0072757, GO:0072719, GO:0072711, GO:0071480, GO:0071479, GO:0070317, GO:0070192, GO:0051321, GO:0051106, GO:0042493, GO:0042148, GO:0036297, GO:0031297, GO:0031297, GO:0010833, GO:0010569, GO:0010212, GO:0010165, GO:0009636, GO:0007131, GO:0006974, GO:0006974, GO:0006312, GO:0006310, GO:0006281, GO:0006268, GO:0001932, GO:0000730, GO:0000730, GO:0000724, GO:0000724, GO:0000724, GO:0000722, mitotic recombination-dependent replication fork processing, replication-born double-strand break repair via sister chromatid exchange, response to glucoside, cellular response to camptothecin, cellular response to cisplatin, cellular response to hydroxyurea, cellular response to gamma radiation, cellular response to ionizing radiation, negative regulation of G0 to G1 transition, chromosome organization involved in meiotic cell cycle, meiotic cell cycle, positive regulation of DNA ligation, response to drug, strand invasion, interstrand cross-link repair, replication fork processing, replication fork processing, telomere maintenance via telomere lengthening, regulation of double-strand break repair via homologous recombination, response to ionizing radiation, response to X-ray, response to toxic substance, reciprocal meiotic recombination, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, mitotic recombination, DNA recombination, DNA repair, DNA unwinding involved in DNA replication, regulation of protein phosphorylation, DNA recombinase assembly, DNA recombinase assembly, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance via recombination, 4 15 9 6 1 6 16 2 4 ENSG00000051341 chr3 121431427 121546641 - POLQ protein_coding 10721 GO:0005737, GO:0005694, GO:0005654, cytoplasm, chromosome, nucleoplasm, GO:0051575, GO:0017116, GO:0008409, GO:0005524, GO:0005515, GO:0003887, GO:0003887, GO:0003887, GO:0003684, GO:0003682, 5'-deoxyribose-5-phosphate lyase activity, single-stranded DNA helicase activity, 5'-3' exonuclease activity, ATP binding, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, damaged DNA binding, chromatin binding, GO:2000042, GO:0097681, GO:0090305, GO:0071897, GO:0051260, GO:0032508, GO:0016446, GO:0006974, GO:0006302, GO:0006284, GO:0006281, GO:0006261, GO:0000724, negative regulation of double-strand break repair via homologous recombination, double-strand break repair via alternative nonhomologous end joining, nucleic acid phosphodiester bond hydrolysis, DNA biosynthetic process, protein homooligomerization, DNA duplex unwinding, somatic hypermutation of immunoglobulin genes, cellular response to DNA damage stimulus, double-strand break repair, base-excision repair, DNA repair, DNA-dependent DNA replication, double-strand break repair via homologous recombination, 1 0 2 7 0 1 4 0 0 ENSG00000051382 chr3 138652699 138834938 - PIK3CB protein_coding This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]. 5291 GO:0043231, GO:0030496, GO:0016020, GO:0005942, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, midbody, membrane, phosphatidylinositol 3-kinase complex, plasma membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0052812, GO:0052742, GO:0046934, GO:0035005, GO:0035004, GO:0016303, GO:0016301, GO:0005524, GO:0005515, phosphatidylinositol-3,4-bisphosphate 5-kinase activity, phosphatidylinositol kinase activity, phosphatidylinositol-4,5-bisphosphate 3-kinase activity, 1-phosphatidylinositol-4-phosphate 3-kinase activity, phosphatidylinositol 3-kinase activity, 1-phosphatidylinositol-3-kinase activity, kinase activity, ATP binding, protein binding, GO:2000369, GO:1903671, GO:1900747, GO:0070527, GO:0051898, GO:0051897, GO:0051897, GO:0051000, GO:0050900, GO:0050852, GO:0048015, GO:0048015, GO:0048010, GO:0046854, GO:0043407, GO:0038096, GO:0038095, GO:0036092, GO:0035022, GO:0033031, GO:0030168, GO:0019221, GO:0016477, GO:0016477, GO:0016310, GO:0014068, GO:0014065, GO:0014065, GO:0014065, GO:0014065, GO:0014065, GO:0010628, GO:0010595, GO:0010508, GO:0007411, GO:0007186, GO:0007169, GO:0007165, GO:0006935, GO:0006914, GO:0006897, GO:0006661, GO:0003376, GO:0002931, GO:0001952, GO:0000187, regulation of clathrin-dependent endocytosis, negative regulation of sprouting angiogenesis, negative regulation of vascular endothelial growth factor signaling pathway, platelet aggregation, negative regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of nitric-oxide synthase activity, leukocyte migration, T cell receptor signaling pathway, phosphatidylinositol-mediated signaling, phosphatidylinositol-mediated signaling, vascular endothelial growth factor receptor signaling pathway, phosphatidylinositol phosphorylation, negative regulation of MAP kinase activity, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, phosphatidylinositol-3-phosphate biosynthetic process, positive regulation of Rac protein signal transduction, positive regulation of neutrophil apoptotic process, platelet activation, cytokine-mediated signaling pathway, cell migration, cell migration, phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, positive regulation of gene expression, positive regulation of endothelial cell migration, positive regulation of autophagy, axon guidance, G protein-coupled receptor signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, chemotaxis, autophagy, endocytosis, phosphatidylinositol biosynthetic process, sphingosine-1-phosphate receptor signaling pathway, response to ischemia, regulation of cell-matrix adhesion, activation of MAPK activity, 641 753 658 304 570 477 361 480 369 ENSG00000051523 chr16 88643283 88651152 - CYBA protein_coding Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]. 1535 GO:0097038, GO:0070821, GO:0043025, GO:0043020, GO:0043020, GO:0043020, GO:0043020, GO:0035579, GO:0030670, GO:0030425, GO:0030141, GO:0016324, GO:0016020, GO:0005925, GO:0005886, GO:0005794, GO:0005789, GO:0005768, GO:0005634, GO:0001725, perinuclear endoplasmic reticulum, tertiary granule membrane, neuronal cell body, NADPH oxidase complex, NADPH oxidase complex, NADPH oxidase complex, NADPH oxidase complex, specific granule membrane, phagocytic vesicle membrane, dendrite, secretory granule, apical plasma membrane, membrane, focal adhesion, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endosome, nucleus, stress fiber, GO:0046982, GO:0046872, GO:0020037, GO:0017124, GO:0016175, GO:0009055, GO:0009055, GO:0005515, protein heterodimerization activity, metal ion binding, heme binding, SH3 domain binding, superoxide-generating NAD(P)H oxidase activity, electron transfer activity, electron transfer activity, protein binding, GO:1904845, GO:1904385, GO:1904044, GO:1903428, GO:1900426, GO:0071480, GO:0071407, GO:0071356, GO:0071333, GO:0071260, GO:0070555, GO:0070257, GO:0055114, GO:0051279, GO:0050766, GO:0050665, GO:0048661, GO:0048010, GO:0045730, GO:0045454, GO:0045087, GO:0045087, GO:0043312, GO:0042554, GO:0042554, GO:0042493, GO:0034599, GO:0034137, GO:0033864, GO:0032930, GO:0032760, GO:0032755, GO:0031667, GO:0030307, GO:0022900, GO:0017004, GO:0014895, GO:0014823, GO:0006954, GO:0006801, GO:0003106, GO:0002479, GO:0001938, GO:0001666, cellular response to L-glutamine, cellular response to angiotensin, response to aldosterone, positive regulation of reactive oxygen species biosynthetic process, positive regulation of defense response to bacterium, cellular response to gamma radiation, cellular response to organic cyclic compound, cellular response to tumor necrosis factor, cellular response to glucose stimulus, cellular response to mechanical stimulus, response to interleukin-1, positive regulation of mucus secretion, oxidation-reduction process, regulation of release of sequestered calcium ion into cytosol, positive regulation of phagocytosis, hydrogen peroxide biosynthetic process, positive regulation of smooth muscle cell proliferation, vascular endothelial growth factor receptor signaling pathway, respiratory burst, cell redox homeostasis, innate immune response, innate immune response, neutrophil degranulation, superoxide anion generation, superoxide anion generation, response to drug, cellular response to oxidative stress, positive regulation of toll-like receptor 2 signaling pathway, positive regulation of NAD(P)H oxidase activity, positive regulation of superoxide anion generation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, response to nutrient levels, positive regulation of cell growth, electron transport chain, cytochrome complex assembly, smooth muscle hypertrophy, response to activity, inflammatory response, superoxide metabolic process, negative regulation of glomerular filtration by angiotensin, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, positive regulation of endothelial cell proliferation, response to hypoxia, 5678 5363 8114 2224 4242 3305 2806 3803 3097 ENSG00000051596 chr5 175917873 176034680 - THOC3 protein_coding This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013]. 84321 GO:0016607, GO:0005654, GO:0000781, GO:0000445, GO:0000445, GO:0000346, nuclear speck, nucleoplasm, chromosome, telomeric region, THO complex part of transcription export complex, THO complex part of transcription export complex, transcription export complex, GO:0003723, RNA binding, GO:0046784, GO:0031124, GO:0008380, GO:0006406, GO:0006406, GO:0006406, GO:0006405, viral mRNA export from host cell nucleus, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 16 6 31 16 14 16 15 6 22 ENSG00000051620 chr6 138403531 138422197 + HEBP2 protein_coding The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane permeabilization, especially under conditions of oxidative stress. [provided by RefSeq, May 2016]. 23593 GO:0070062, GO:0035578, GO:0005739, GO:0005737, GO:0005737, GO:0005576, extracellular exosome, azurophil granule lumen, mitochondrion, cytoplasm, cytoplasm, extracellular region, GO:0020037, GO:0005515, heme binding, protein binding, GO:1901031, GO:0043312, GO:0035794, GO:0010940, GO:0010917, regulation of response to reactive oxygen species, neutrophil degranulation, positive regulation of mitochondrial membrane permeability, positive regulation of necrotic cell death, negative regulation of mitochondrial membrane potential, 1151 885 1422 608 915 864 734 861 759 ENSG00000051825 chr12 123152320 123244014 - MPHOSPH9 protein_coding 10198 GO:0016020, GO:0005814, GO:0005814, GO:0005794, GO:0000139, membrane, centriole, centriole, Golgi apparatus, Golgi membrane, 48 39 81 116 41 194 82 28 127 ENSG00000052126 chr12 19129752 19376400 + PLEKHA5 protein_coding 54477 GO:0016020, GO:0005829, GO:0005829, GO:0005654, membrane, cytosol, cytosol, nucleoplasm, GO:0080025, GO:0070273, GO:0032266, GO:0010314, GO:0005515, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, protein binding, GO:0061458, GO:0008150, reproductive system development, biological_process, 5 2 12 18 8 29 10 10 12 ENSG00000052344 chr16 31131433 31135762 - PRSS8 protein_coding This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]. 5652 GO:0070062, GO:0016021, GO:0005886, GO:0005886, GO:0005615, GO:0005576, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, extracellular space, extracellular region, GO:0017080, GO:0008236, GO:0005515, GO:0004252, sodium channel regulator activity, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0070268, GO:0010765, GO:0006508, cornification, positive regulation of sodium ion transport, proteolysis, 6 9 1 11 23 8 13 13 11 ENSG00000052723 chr1 114769479 114780685 - SIKE1 protein_coding SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008]. 80143 GO:0005829, cytosol, GO:0031267, GO:0019901, GO:0005515, small GTPase binding, protein kinase binding, protein binding, 215 144 196 161 122 165 143 100 110 ENSG00000052749 chr10 97356358 97426076 - RRP12 protein_coding 23223 GO:0043231, GO:0031965, GO:0016021, GO:0005886, GO:0005829, GO:0005730, GO:0005730, intracellular membrane-bounded organelle, nuclear membrane, integral component of membrane, plasma membrane, cytosol, nucleolus, nucleolus, GO:0003723, RNA binding, GO:0006364, rRNA processing, 2579 4831 3403 1954 4408 2609 2329 3180 2018 ENSG00000052795 chr4 158769138 158908049 + FNIP2 protein_coding This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. The encoded protein may also be involved in regulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]. 57600 GO:0034451, GO:0005829, GO:0005765, GO:0005737, GO:0005737, centriolar satellite, cytosol, lysosomal membrane, cytoplasm, cytoplasm, GO:0051087, GO:0051087, GO:0042030, GO:0042030, GO:0005515, chaperone binding, chaperone binding, ATPase inhibitor activity, ATPase inhibitor activity, protein binding, GO:0043086, GO:0033138, GO:0031334, GO:0008630, GO:0006468, GO:0001932, GO:0000122, negative regulation of catalytic activity, positive regulation of peptidyl-serine phosphorylation, positive regulation of protein-containing complex assembly, intrinsic apoptotic signaling pathway in response to DNA damage, protein phosphorylation, regulation of protein phosphorylation, negative regulation of transcription by RNA polymerase II, 36 41 54 61 37 56 77 34 36 ENSG00000052802 chr4 165327623 165343160 + MSMO1 protein_coding Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6307 GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0016491, GO:0005515, GO:0005506, GO:0000254, GO:0000254, oxidoreductase activity, protein binding, iron ion binding, C-4 methylsterol oxidase activity, C-4 methylsterol oxidase activity, GO:0055114, GO:0016126, GO:0008202, GO:0006695, GO:0006695, GO:0006631, oxidation-reduction process, sterol biosynthetic process, steroid metabolic process, cholesterol biosynthetic process, cholesterol biosynthetic process, fatty acid metabolic process, 13 6 33 38 21 51 36 19 33 ENSG00000052841 chr11 43358932 43494933 + TTC17 protein_coding 55761 GO:0015629, GO:0015629, GO:0005886, GO:0005829, GO:0005737, GO:0005737, actin cytoskeleton, actin cytoskeleton, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0044782, GO:0044782, GO:0030041, GO:0030041, cilium organization, cilium organization, actin filament polymerization, actin filament polymerization, 590 613 661 482 599 520 532 503 384 ENSG00000052850 chr11 44260440 44310166 - ALX4 protein_coding This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]. 60529 GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0071837, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, HMG box domain binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060021, GO:0048704, GO:0042981, GO:0042733, GO:0035116, GO:0035115, GO:0009952, GO:0009791, GO:0007517, GO:0006357, GO:0001942, GO:0001501, roof of mouth development, embryonic skeletal system morphogenesis, regulation of apoptotic process, embryonic digit morphogenesis, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, anterior/posterior pattern specification, post-embryonic development, muscle organ development, regulation of transcription by RNA polymerase II, hair follicle development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000053108 chr5 133196455 133612564 - FSTL4 protein_coding 23105 GO:0030141, GO:0005576, secretory granule, extracellular region, GO:0048403, GO:0005509, brain-derived neurotrophic factor binding, calcium ion binding, GO:0061000, GO:0048671, GO:0031549, GO:0030154, GO:0007275, negative regulation of dendritic spine development, negative regulation of collateral sprouting, negative regulation of brain-derived neurotrophic factor receptor signaling pathway, cell differentiation, multicellular organism development, 1 2 0 0 1 0 0 0 0 ENSG00000053254 chr14 89124871 89619149 - FOXN3 protein_coding This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]. 1112 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0043565, GO:0008022, GO:0005515, GO:0003700, GO:0000987, GO:0000981, sequence-specific DNA binding, protein C-terminus binding, protein binding, DNA-binding transcription factor activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0097094, GO:0045892, GO:0007095, GO:0006357, GO:0006355, craniofacial suture morphogenesis, negative regulation of transcription, DNA-templated, mitotic G2 DNA damage checkpoint, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2821 2900 2778 853 1428 1199 1147 1191 888 ENSG00000053328 chr6 110245928 110358272 - METTL24 protein_coding 728464 GO:0005576, extracellular region, GO:0008168, methyltransferase activity, GO:0032259, methylation, 0 0 0 0 0 1 0 0 4 ENSG00000053371 chr1 19303965 19312146 - AKR7A2 protein_coding The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 8574 GO:0070062, GO:0005829, GO:0005829, GO:0005794, extracellular exosome, cytosol, cytosol, Golgi apparatus, GO:0019119, GO:0009055, GO:0005515, GO:0004032, phenanthrene-9,10-epoxide hydrolase activity, electron transfer activity, protein binding, alditol:NADP+ 1-oxidoreductase activity, GO:0044598, GO:0044597, GO:0022900, GO:0006805, GO:0006081, GO:0005975, doxorubicin metabolic process, daunorubicin metabolic process, electron transport chain, xenobiotic metabolic process, cellular aldehyde metabolic process, carbohydrate metabolic process, 26 35 23 32 19 47 22 18 13 ENSG00000053372 chr1 19251539 19260128 + MRTO4 protein_coding This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008]. 51154 GO:0030687, GO:0005737, GO:0005730, preribosome, large subunit precursor, cytoplasm, nucleolus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0042273, GO:0006364, GO:0000956, GO:0000027, ribosomal large subunit biogenesis, rRNA processing, nuclear-transcribed mRNA catabolic process, ribosomal large subunit assembly, 14 12 14 26 5 25 25 18 10 ENSG00000053438 chr20 37521206 37523693 + NNAT protein_coding The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]. 4826 GO:0005737, cytoplasm, GO:0032024, GO:0030182, GO:0009249, GO:0007420, positive regulation of insulin secretion, neuron differentiation, protein lipoylation, brain development, 17 18 15 21 19 6 25 13 8 ENSG00000053501 chr19 17215346 17219829 + USE1 protein_coding 55850 GO:0031201, GO:0030137, GO:0016021, GO:0005886, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0005764, SNARE complex, COPI-coated vesicle, integral component of membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, lysosome, GO:0005515, GO:0005484, protein binding, SNAP receptor activity, GO:0061025, GO:0032940, GO:0030163, GO:0015031, GO:0007041, GO:0006890, GO:0006890, GO:0006888, membrane fusion, secretion by cell, protein catabolic process, protein transport, lysosomal transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, 49 63 59 196 152 161 173 113 107 ENSG00000053524 chr3 183178043 183428778 - MCF2L2 protein_coding 23101 GO:0005085, guanyl-nucleotide exchange factor activity, 576 611 1072 306 560 798 395 458 766 ENSG00000053702 chr12 2825348 2835544 - NRIP2 protein_coding 83714 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0004190, protein binding, aspartic-type endopeptidase activity, GO:0006508, proteolysis, 13 7 21 34 7 28 13 5 16 ENSG00000053747 chr18 23689443 23956222 + LAMA3 protein_coding The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]. 3909 GO:0070062, GO:0062023, GO:0005783, GO:0005610, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, endoplasmic reticulum, laminin-5 complex, basement membrane, extracellular region, GO:0005201, GO:0005201, GO:0005198, GO:0005178, extracellular matrix structural constituent, extracellular matrix structural constituent, structural molecule activity, integrin binding, GO:0098609, GO:0045995, GO:0035987, GO:0031581, GO:0030334, GO:0030198, GO:0030155, GO:0016477, GO:0009888, GO:0009887, GO:0008544, GO:0007411, GO:0007229, GO:0001738, cell-cell adhesion, regulation of embryonic development, endodermal cell differentiation, hemidesmosome assembly, regulation of cell migration, extracellular matrix organization, regulation of cell adhesion, cell migration, tissue development, animal organ morphogenesis, epidermis development, axon guidance, integrin-mediated signaling pathway, morphogenesis of a polarized epithelium, 0 0 0 0 0 0 0 0 0 ENSG00000053770 chr14 57268909 57298742 + AP5M1 protein_coding 55745 GO:0031902, GO:0030119, GO:0030119, GO:0016020, GO:0005829, GO:0005829, GO:0005770, GO:0005770, GO:0005765, GO:0005764, GO:0005764, late endosome membrane, AP-type membrane coat adaptor complex, AP-type membrane coat adaptor complex, membrane, cytosol, cytosol, late endosome, late endosome, lysosomal membrane, lysosome, lysosome, GO:0016197, GO:0016197, GO:0015031, endosomal transport, endosomal transport, protein transport, 167 156 230 151 111 126 140 80 105 ENSG00000053900 chr4 25377213 25418498 + ANAPC4 protein_coding A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 29945 GO:0034399, GO:0005829, GO:0005680, GO:0005680, GO:0005654, GO:0005634, nuclear periphery, cytosol, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, nucleus, GO:0061630, GO:0019903, GO:0005515, ubiquitin protein ligase activity, protein phosphatase binding, protein binding, GO:1901990, GO:0070979, GO:0070979, GO:0051301, GO:0045842, GO:0031145, GO:0031145, GO:0007049, GO:0006511, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, protein K11-linked ubiquitination, cell division, positive regulation of mitotic metaphase/anaphase transition, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, cell cycle, ubiquitin-dependent protein catabolic process, 138 198 247 240 213 392 224 209 328 ENSG00000053918 chr11 2444684 2849110 + KCNQ1 protein_coding This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]. 3784 GO:0045121, GO:0034702, GO:0030659, GO:0016323, GO:0016021, GO:0008076, GO:0008076, GO:0008076, GO:0005886, GO:0005886, GO:0005783, GO:0005783, GO:0005770, GO:0005769, GO:0005769, GO:0005764, GO:0005737, membrane raft, ion channel complex, cytoplasmic vesicle membrane, basolateral plasma membrane, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, endoplasmic reticulum, endoplasmic reticulum, late endosome, early endosome, early endosome, lysosome, cytoplasm, GO:1902282, GO:1902282, GO:0097110, GO:0086089, GO:0086089, GO:0086008, GO:0044325, GO:0034237, GO:0034236, GO:0015271, GO:0015271, GO:0008157, GO:0005546, GO:0005516, GO:0005516, GO:0005515, GO:0005251, GO:0005251, GO:0005251, GO:0005249, GO:0005249, GO:0005249, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, scaffold protein binding, voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization, ion channel binding, protein kinase A regulatory subunit binding, protein kinase A catalytic subunit binding, outward rectifier potassium channel activity, outward rectifier potassium channel activity, protein phosphatase 1 binding, phosphatidylinositol-4,5-bisphosphate binding, calmodulin binding, calmodulin binding, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:1901381, GO:0098915, GO:0098915, GO:0098914, GO:0097623, GO:0097623, GO:0086091, GO:0086014, GO:0086013, GO:0086013, GO:0086011, GO:0086005, GO:0071872, GO:0071805, GO:0071805, GO:0071320, GO:0071320, GO:0070293, GO:0061337, GO:0060453, GO:0060452, GO:0060372, GO:0060307, GO:0060306, GO:0060306, GO:0060048, GO:0050892, GO:0048839, GO:0035690, GO:0016458, GO:0010460, GO:0008016, GO:0007605, GO:0006349, positive regulation of potassium ion transmembrane transport, membrane repolarization during ventricular cardiac muscle cell action potential, membrane repolarization during ventricular cardiac muscle cell action potential, membrane repolarization during atrial cardiac muscle cell action potential, potassium ion export across plasma membrane, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, atrial cardiac muscle cell action potential, membrane repolarization during cardiac muscle cell action potential, membrane repolarization during cardiac muscle cell action potential, membrane repolarization during action potential, ventricular cardiac muscle cell action potential, cellular response to epinephrine stimulus, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to cAMP, cellular response to cAMP, renal absorption, cardiac conduction, regulation of gastric acid secretion, positive regulation of cardiac muscle contraction, regulation of atrial cardiac muscle cell membrane repolarization, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of membrane repolarization, regulation of membrane repolarization, cardiac muscle contraction, intestinal absorption, inner ear development, cellular response to drug, gene silencing, positive regulation of heart rate, regulation of heart contraction, sensory perception of sound, regulation of gene expression by genetic imprinting, 346 312 444 81 145 122 138 159 112 ENSG00000054116 chr1 36136570 36156053 - TRAPPC3 protein_coding This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 27095 GO:0033106, GO:0030008, GO:0030008, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005783, GO:0000139, cis-Golgi network membrane, TRAPP complex, TRAPP complex, cytosol, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:0048208, GO:0006891, GO:0006888, COPII vesicle coating, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 266 281 280 170 228 125 156 194 164 ENSG00000054118 chr1 36224416 36305357 + THRAP3 protein_coding 9967 GO:0070062, GO:0035145, GO:0016607, GO:0016592, GO:0016592, GO:0005654, GO:0005634, extracellular exosome, exon-exon junction complex, nuclear speck, mediator complex, mediator complex, nucleoplasm, nucleus, GO:0051219, GO:0046966, GO:0042809, GO:0030374, GO:0005524, GO:0005515, GO:0003723, GO:0003713, GO:0003712, GO:0003712, GO:0003677, GO:0000978, phosphoprotein binding, thyroid hormone receptor binding, vitamin D receptor binding, nuclear receptor coactivator activity, ATP binding, protein binding, RNA binding, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048255, GO:0048026, GO:0045944, GO:0045944, GO:0045893, GO:0042753, GO:0008380, GO:0007623, GO:0006397, GO:0000956, GO:0000381, mRNA stabilization, positive regulation of mRNA splicing, via spliceosome, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of circadian rhythm, RNA splicing, circadian rhythm, mRNA processing, nuclear-transcribed mRNA catabolic process, regulation of alternative mRNA splicing, via spliceosome, 2835 2390 3335 1206 1637 1669 1252 1253 1184 ENSG00000054148 chr9 136848724 136851027 + PHPT1 protein_coding This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 29085 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0101006, GO:0101006, GO:0101006, GO:0044325, GO:0019855, GO:0005515, protein histidine phosphatase activity, protein histidine phosphatase activity, protein histidine phosphatase activity, ion channel binding, calcium channel inhibitor activity, protein binding, GO:2000984, GO:2000249, GO:2000147, GO:0051350, GO:0050860, GO:0035971, GO:0035971, GO:0035774, GO:0006470, negative regulation of ATP citrate synthase activity, regulation of actin cytoskeleton reorganization, positive regulation of cell motility, negative regulation of lyase activity, negative regulation of T cell receptor signaling pathway, peptidyl-histidine dephosphorylation, peptidyl-histidine dephosphorylation, positive regulation of insulin secretion involved in cellular response to glucose stimulus, protein dephosphorylation, 9 7 16 12 9 49 21 8 23 ENSG00000054179 chr9 137048098 137054045 - ENTPD2 protein_coding The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 954 GO:0070062, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005789, GO:0005604, extracellular exosome, integral component of membrane, membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, basement membrane, GO:0045134, GO:0017111, GO:0017110, GO:0017110, GO:0005524, GO:0005515, GO:0004382, uridine-diphosphatase activity, nucleoside-triphosphatase activity, nucleoside-diphosphatase activity, nucleoside-diphosphatase activity, ATP binding, protein binding, guanosine-diphosphatase activity, GO:0034656, GO:0030168, GO:0009181, GO:0009134, GO:0007186, nucleobase-containing small molecule catabolic process, platelet activation, purine ribonucleoside diphosphate catabolic process, nucleoside diphosphate catabolic process, G protein-coupled receptor signaling pathway, 70 47 60 16 38 36 33 31 21 ENSG00000054219 chr2 159803355 159904749 - LY75 protein_coding 4065 GO:0070062, GO:0009897, GO:0005887, extracellular exosome, external side of plasma membrane, integral component of plasma membrane, GO:0038023, GO:0030246, signaling receptor activity, carbohydrate binding, GO:0006955, GO:0006954, GO:0006897, immune response, inflammatory response, endocytosis, 283 390 606 179 317 319 225 268 298 ENSG00000054267 chr1 235131634 235328219 - ARID4B protein_coding This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]. 51742 GO:0005737, GO:0005654, GO:0005634, GO:0005575, cytoplasm, nucleoplasm, nucleus, cellular_component, GO:0005515, GO:0003674, GO:0000976, protein binding, molecular_function, transcription regulatory region sequence-specific DNA binding, GO:0097368, GO:0045944, GO:0036124, GO:0034773, GO:0008150, GO:0007283, GO:0006357, GO:0006349, establishment of Sertoli cell barrier, positive regulation of transcription by RNA polymerase II, histone H3-K9 trimethylation, histone H4-K20 trimethylation, biological_process, spermatogenesis, regulation of transcription by RNA polymerase II, regulation of gene expression by genetic imprinting, 2718 2587 4466 1341 1863 1791 1495 1506 1484 ENSG00000054277 chr1 241590102 241677376 - OPN3 protein_coding Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008]. 23596 GO:0016021, GO:0005887, GO:0005886, GO:0005737, GO:0001750, integral component of membrane, integral component of plasma membrane, plasma membrane, cytoplasm, photoreceptor outer segment, GO:0009881, GO:0008020, GO:0008020, GO:0005515, GO:0005503, GO:0005502, GO:0004930, photoreceptor activity, G protein-coupled photoreceptor activity, G protein-coupled photoreceptor activity, protein binding, all-trans retinal binding, 11-cis retinal binding, G protein-coupled receptor activity, GO:1901857, GO:0071492, GO:0071482, GO:0048023, GO:0048022, GO:0046326, GO:0043066, GO:0042752, GO:0030216, GO:0018298, GO:0009637, GO:0009637, GO:0009584, GO:0009583, GO:0007602, GO:0007602, GO:0007186, positive regulation of cellular respiration, cellular response to UV-A, cellular response to light stimulus, positive regulation of melanin biosynthetic process, negative regulation of melanin biosynthetic process, positive regulation of glucose import, negative regulation of apoptotic process, regulation of circadian rhythm, keratinocyte differentiation, protein-chromophore linkage, response to blue light, response to blue light, detection of visible light, detection of light stimulus, phototransduction, phototransduction, G protein-coupled receptor signaling pathway, 7 9 10 13 14 6 12 7 18 ENSG00000054282 chr1 243256034 243500092 + SDCCAG8 protein_coding This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]. 10806 GO:0097733, GO:0036064, GO:0034451, GO:0005911, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, photoreceptor cell cilium, ciliary basal body, centriolar satellite, cell-cell junction, cytosol, centriole, centriole, centrosome, centrosome, GO:0005515, protein binding, GO:1902017, GO:0097711, GO:0035148, GO:0035148, GO:0031023, GO:0030010, GO:0030010, GO:0010389, GO:0007098, GO:0001764, GO:0000086, regulation of cilium assembly, ciliary basal body-plasma membrane docking, tube formation, tube formation, microtubule organizing center organization, establishment of cell polarity, establishment of cell polarity, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, neuron migration, G2/M transition of mitotic cell cycle, 15 24 57 2 69 2 2 45 8 ENSG00000054356 chr2 219289623 219309648 - PTPRN protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]. 5798 GO:0045202, GO:0043679, GO:0043204, GO:0043025, GO:0030658, GO:0030141, GO:0016021, GO:0008021, GO:0005886, GO:0005794, GO:0005768, GO:0005634, synapse, axon terminus, perikaryon, neuronal cell body, transport vesicle membrane, secretory granule, integral component of membrane, synaptic vesicle, plasma membrane, Golgi apparatus, endosome, nucleus, GO:0051020, GO:0044389, GO:0030507, GO:0008134, GO:0005515, GO:0004725, GTPase binding, ubiquitin-like protein ligase binding, spectrin binding, transcription factor binding, protein binding, protein tyrosine phosphatase activity, GO:1990502, GO:1904692, GO:0051591, GO:0045944, GO:0043627, GO:0035773, GO:0035335, GO:0032868, GO:0030073, GO:0019221, GO:0001553, GO:0000302, dense core granule maturation, positive regulation of type B pancreatic cell proliferation, response to cAMP, positive regulation of transcription by RNA polymerase II, response to estrogen, insulin secretion involved in cellular response to glucose stimulus, peptidyl-tyrosine dephosphorylation, response to insulin, insulin secretion, cytokine-mediated signaling pathway, luteinization, response to reactive oxygen species, 0 0 0 2 1 0 1 0 0 ENSG00000054392 chr1 210328252 210676296 + HHAT protein_coding 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]. 55733 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0016746, GO:0016409, GO:0008374, GO:0005525, GO:0005515, transferase activity, transferring acyl groups, palmitoyltransferase activity, O-acyltransferase activity, GTP binding, protein binding, GO:0018345, GO:0007275, GO:0007224, protein palmitoylation, multicellular organism development, smoothened signaling pathway, 5 3 6 1 5 7 13 3 0 ENSG00000054523 chr1 10210805 10381603 + KIF1B protein_coding This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]. 23095 GO:1904115, GO:0043005, GO:0031410, GO:0031410, GO:0030659, GO:0030425, GO:0030424, GO:0008021, GO:0005875, GO:0005874, GO:0005871, GO:0005739, axon cytoplasm, neuron projection, cytoplasmic vesicle, cytoplasmic vesicle, cytoplasmic vesicle membrane, dendrite, axon, synaptic vesicle, microtubule associated complex, microtubule, kinesin complex, mitochondrion, GO:0097110, GO:0019900, GO:0019894, GO:0016887, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003777, scaffold protein binding, kinase binding, kinesin binding, ATPase activity, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, microtubule motor activity, GO:1990778, GO:1990090, GO:1990049, GO:1990048, GO:1904647, GO:0047497, GO:0032418, GO:0030705, GO:0030705, GO:0016192, GO:0010628, GO:0008089, GO:0007274, GO:0007270, GO:0007018, GO:0007018, GO:0006915, protein localization to cell periphery, cellular response to nerve growth factor stimulus, retrograde neuronal dense core vesicle transport, anterograde neuronal dense core vesicle transport, response to rotenone, mitochondrion transport along microtubule, lysosome localization, cytoskeleton-dependent intracellular transport, cytoskeleton-dependent intracellular transport, vesicle-mediated transport, positive regulation of gene expression, anterograde axonal transport, neuromuscular synaptic transmission, neuron-neuron synaptic transmission, microtubule-based movement, microtubule-based movement, apoptotic process, 1581 1254 2159 898 1166 1356 1077 885 1082 ENSG00000054598 chr6 1609972 1613897 + FOXC1 protein_coding This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]. 2296 GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000792, GO:0000785, GO:0000785, cytosol, nucleoplasm, nucleus, nucleus, heterochromatin, chromatin, chromatin, GO:1990841, GO:0043565, GO:0008301, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, GO:0000976, promoter-specific chromatin binding, sequence-specific DNA binding, DNA binding, bending, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990869, GO:1904798, GO:1902257, GO:1902038, GO:1901534, GO:1901491, GO:0097746, GO:0072010, GO:0071364, GO:0070098, GO:0060038, GO:0055010, GO:0048844, GO:0048341, GO:0048010, GO:0046620, GO:0045944, GO:0045944, GO:0045944, GO:0045930, GO:0045893, GO:0045893, GO:0045618, GO:0043388, GO:0043010, GO:0042475, GO:0038084, GO:0036438, GO:0035050, GO:0032808, GO:0030203, GO:0030199, GO:0030154, GO:0021549, GO:0016525, GO:0016477, GO:0016477, GO:0014032, GO:0014031, GO:0010718, GO:0009653, GO:0008354, GO:0008283, GO:0008283, GO:0007507, GO:0007219, GO:0006357, GO:0006355, GO:0001974, GO:0001958, GO:0001945, GO:0001822, GO:0001756, GO:0001701, GO:0001657, GO:0001654, GO:0001541, GO:0001525, GO:0000122, cellular response to chemokine, positive regulation of core promoter binding, negative regulation of apoptotic process involved in outflow tract morphogenesis, positive regulation of hematopoietic stem cell differentiation, positive regulation of hematopoietic progenitor cell differentiation, negative regulation of lymphangiogenesis, blood vessel diameter maintenance, glomerular epithelium development, cellular response to epidermal growth factor stimulus, chemokine-mediated signaling pathway, cardiac muscle cell proliferation, ventricular cardiac muscle tissue morphogenesis, artery morphogenesis, paraxial mesoderm formation, vascular endothelial growth factor receptor signaling pathway, regulation of organ growth, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of keratinocyte differentiation, positive regulation of DNA binding, camera-type eye development, odontogenesis of dentin-containing tooth, vascular endothelial growth factor signaling pathway, maintenance of lens transparency, embryonic heart tube development, lacrimal gland development, glycosaminoglycan metabolic process, collagen fibril organization, cell differentiation, cerebellum development, negative regulation of angiogenesis, cell migration, cell migration, neural crest cell development, mesenchymal cell development, positive regulation of epithelial to mesenchymal transition, anatomical structure morphogenesis, germ cell migration, cell population proliferation, cell population proliferation, heart development, Notch signaling pathway, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, blood vessel remodeling, endochondral ossification, lymph vessel development, kidney development, somitogenesis, in utero embryonic development, ureteric bud development, eye development, ovarian follicle development, angiogenesis, negative regulation of transcription by RNA polymerase II, 1 1 5 1 2 7 3 5 7 ENSG00000054611 chr22 46762617 47175699 + TBC1D22A protein_coding 25771 GO:0071889, GO:0042803, GO:0031267, GO:0005515, GO:0005096, 14-3-3 protein binding, protein homodimerization activity, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0006886, regulation of cilium assembly, activation of GTPase activity, intracellular protein transport, 601 622 560 312 546 479 374 560 369 ENSG00000054654 chr14 63852983 64226433 + SYNE2 protein_coding The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 23224 GO:0070062, GO:0045111, GO:0034993, GO:0033017, GO:0031981, GO:0031965, GO:0031527, GO:0031258, GO:0030018, GO:0016529, GO:0016021, GO:0005925, GO:0005739, GO:0005737, GO:0005654, GO:0005640, GO:0005635, GO:0005634, extracellular exosome, intermediate filament cytoskeleton, meiotic nuclear membrane microtubule tethering complex, sarcoplasmic reticulum membrane, nuclear lumen, nuclear membrane, filopodium membrane, lamellipodium membrane, Z disc, sarcoplasmic reticulum, integral component of membrane, focal adhesion, mitochondrion, cytoplasm, nucleoplasm, nuclear outer membrane, nuclear envelope, nucleus, GO:0140444, GO:0051015, GO:0005515, GO:0003779, cytoskeleton-nuclear membrane anchor activity, actin filament binding, protein binding, actin binding, GO:1902017, GO:0051642, GO:0031022, GO:0030335, GO:0021817, GO:0007097, regulation of cilium assembly, centrosome localization, nuclear migration along microfilament, positive regulation of cell migration, nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration, nuclear migration, 3964 2951 5558 2202 1251 2554 2700 953 2488 ENSG00000054690 chr14 67533301 67589612 + PLEKHH1 protein_coding 57475 GO:0005856, cytoskeleton, 3 7 10 12 10 8 9 9 13 ENSG00000054793 chr20 51596514 51768634 - ATP9A protein_coding 10079 GO:0055037, GO:0048471, GO:0031901, GO:0016021, GO:0005886, GO:0005802, GO:0005802, GO:0005769, GO:0005768, recycling endosome, perinuclear region of cytoplasm, early endosome membrane, integral component of membrane, plasma membrane, trans-Golgi network, trans-Golgi network, early endosome, endosome, GO:0140326, GO:0005524, GO:0002020, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATP binding, protease binding, magnesium ion binding, GO:0045332, GO:0045332, GO:0006897, GO:0006890, phospholipid translocation, phospholipid translocation, endocytosis, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 15 18 24 13 11 22 10 8 17 ENSG00000054796 chr20 57329759 57343994 + SPO11 protein_coding Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]. 23626 GO:0000781, GO:0000228, chromosome, telomeric region, nuclear chromosome, GO:0046872, GO:0005524, GO:0005515, GO:0003918, GO:0003677, metal ion binding, ATP binding, protein binding, DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity, DNA binding, GO:1990918, GO:0048477, GO:0045141, GO:0042138, GO:0034502, GO:0007292, GO:0007286, GO:0007283, GO:0007141, GO:0007131, GO:0007130, GO:0001541, GO:0000737, GO:0000706, double-strand break repair involved in meiotic recombination, oogenesis, meiotic telomere clustering, meiotic DNA double-strand break formation, protein localization to chromosome, female gamete generation, spermatid development, spermatogenesis, male meiosis I, reciprocal meiotic recombination, synaptonemal complex assembly, ovarian follicle development, DNA catabolic process, endonucleolytic, meiotic DNA double-strand break processing, 0 0 0 0 0 0 0 0 0 ENSG00000054803 chr20 55997440 56005472 - CBLN4 protein_coding This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]. 140689 GO:0098982, GO:0062023, GO:0005615, GO:0005576, GABA-ergic synapse, collagen-containing extracellular matrix, extracellular space, extracellular region, GO:1904862, GO:0009306, inhibitory synapse assembly, protein secretion, 0 0 0 0 0 0 0 0 0 ENSG00000054938 chr11 74696429 74731385 - CHRDL2 protein_coding This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]. 25884 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0051216, GO:0030154, GO:0001503, cartilage development, cell differentiation, ossification, 0 1 0 0 3 0 0 0 0 ENSG00000054965 chr11 73400487 73598189 - FAM168A protein_coding 23201 GO:0005515, protein binding, GO:1905053, GO:1905053, positive regulation of base-excision repair, positive regulation of base-excision repair, 1519 1236 1637 4014 3888 6169 6944 3480 4390 ENSG00000054967 chr11 73376264 73397474 + RELT protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. 84957 GO:0048471, GO:0016021, GO:0005886, GO:0005654, perinuclear region of cytoplasm, integral component of membrane, plasma membrane, nucleoplasm, GO:0005515, protein binding, GO:0097186, GO:0097186, GO:0006915, GO:0006915, amelogenesis, amelogenesis, apoptotic process, apoptotic process, 6786 6299 8886 12460 12282 16528 19136 13467 15945 ENSG00000054983 chr14 87837820 87993665 - GALC protein_coding This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 2581 GO:0043202, GO:0005764, lysosomal lumen, lysosome, GO:0004336, GO:0004336, GO:0004336, GO:0004336, galactosylceramidase activity, galactosylceramidase activity, galactosylceramidase activity, galactosylceramidase activity, GO:0042552, GO:0006687, GO:0006683, GO:0006683, GO:0006683, myelination, glycosphingolipid metabolic process, galactosylceramide catabolic process, galactosylceramide catabolic process, galactosylceramide catabolic process, 929 1078 1660 375 619 484 485 502 348 ENSG00000055044 chr2 202265716 202303666 + NOP58 protein_coding The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs. [provided by RefSeq, Nov 2015]. 51602 GO:0070761, GO:0032040, GO:0031428, GO:0031428, GO:0016020, GO:0015030, GO:0005829, GO:0005732, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0001650, pre-snoRNP complex, small-subunit processome, box C/D snoRNP complex, box C/D snoRNP complex, membrane, Cajal body, cytosol, small nucleolar ribonucleoprotein complex, nucleolus, nucleolus, nucleoplasm, nucleoplasm, fibrillar center, GO:0051117, GO:0030515, GO:0030515, GO:0005515, GO:0003723, GO:0001094, ATPase binding, snoRNA binding, snoRNA binding, protein binding, RNA binding, TFIID-class transcription factor complex binding, GO:0048254, GO:0006364, snoRNA localization, rRNA processing, 137 97 256 330 111 283 228 80 143 ENSG00000055070 chr1 16352575 16398145 + SZRD1 protein_coding 26099 1582 1500 2093 651 764 959 798 794 771 ENSG00000055118 chr7 150944961 150978315 - KCNH2 protein_coding This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 3757 GO:1902937, GO:0048471, GO:0009986, GO:0008076, GO:0008076, GO:0005887, GO:0005886, GO:0005886, GO:0005886, inward rectifier potassium channel complex, perinuclear region of cytoplasm, cell surface, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:1902282, GO:0097110, GO:0086008, GO:0055131, GO:0042803, GO:0042802, GO:0031625, GO:0005515, GO:0005251, GO:0005251, GO:0005249, GO:0005249, GO:0005242, GO:0005242, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, scaffold protein binding, voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization, C3HC4-type RING finger domain binding, protein homodimerization activity, identical protein binding, ubiquitin protein ligase binding, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, inward rectifier potassium channel activity, inward rectifier potassium channel activity, GO:1990573, GO:1903765, GO:1901381, GO:1901380, GO:1901379, GO:0098915, GO:0097623, GO:0097623, GO:0086091, GO:0086091, GO:0086013, GO:0086011, GO:0086010, GO:0086009, GO:0086005, GO:0071805, GO:0071805, GO:0061337, GO:0060307, GO:0060306, GO:0060048, GO:0055075, GO:0042391, GO:0042391, GO:0035690, GO:0003064, potassium ion import across plasma membrane, negative regulation of potassium ion export across plasma membrane, positive regulation of potassium ion transmembrane transport, negative regulation of potassium ion transmembrane transport, regulation of potassium ion transmembrane transport, membrane repolarization during ventricular cardiac muscle cell action potential, potassium ion export across plasma membrane, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, regulation of heart rate by cardiac conduction, membrane repolarization during cardiac muscle cell action potential, membrane repolarization during action potential, membrane depolarization during action potential, membrane repolarization, ventricular cardiac muscle cell action potential, potassium ion transmembrane transport, potassium ion transmembrane transport, cardiac conduction, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of membrane repolarization, cardiac muscle contraction, potassium ion homeostasis, regulation of membrane potential, regulation of membrane potential, cellular response to drug, regulation of heart rate by hormone, 19 29 116 7 1 4 3 1 5 ENSG00000055130 chr7 148697914 148801036 + CUL1 protein_coding 8454 GO:1990452, GO:0031461, GO:0031461, GO:0019005, GO:0019005, GO:0019005, GO:0005886, GO:0005829, GO:0005654, Parkin-FBXW7-Cul1 ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, plasma membrane, cytosol, nucleoplasm, GO:0031625, GO:0005515, GO:0004842, ubiquitin protein ligase binding, protein binding, ubiquitin-protein transferase activity, GO:1901990, GO:0097193, GO:0070936, GO:0070498, GO:0051403, GO:0050852, GO:0043687, GO:0038095, GO:0038061, GO:0031146, GO:0031146, GO:0031146, GO:0031146, GO:0016567, GO:0016567, GO:0016055, GO:0016032, GO:0010972, GO:0010265, GO:0009887, GO:0008283, GO:0006879, GO:0006513, GO:0002223, GO:0000209, GO:0000086, GO:0000082, regulation of mitotic cell cycle phase transition, intrinsic apoptotic signaling pathway, protein K48-linked ubiquitination, interleukin-1-mediated signaling pathway, stress-activated MAPK cascade, T cell receptor signaling pathway, post-translational protein modification, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, Wnt signaling pathway, viral process, negative regulation of G2/M transition of mitotic cell cycle, SCF complex assembly, animal organ morphogenesis, cell population proliferation, cellular iron ion homeostasis, protein monoubiquitination, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 76 84 145 180 75 181 112 64 147 ENSG00000055147 chr5 153990128 154038936 - FAM114A2 protein_coding 10827 GO:0005575, cellular_component, GO:0017076, GO:0005515, purine nucleotide binding, protein binding, GO:0008150, biological_process, 72 95 122 47 47 51 60 52 51 ENSG00000055163 chr5 157266079 157395595 + CYFIP2 protein_coding 26999 GO:0070062, GO:0048471, GO:0045202, GO:0043005, GO:0031209, GO:0016020, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, synapse, neuron projection, SCAR complex, membrane, cytosol, cytoplasm, nucleus, GO:0031267, GO:0005515, GO:0000340, small GTPase binding, protein binding, RNA 7-methylguanosine cap binding, GO:0098609, GO:0097484, GO:0097202, GO:0097202, GO:0051388, GO:0048010, GO:0045862, GO:0038096, GO:0030833, GO:0006915, GO:0006915, GO:0000902, cell-cell adhesion, dendrite extension, activation of cysteine-type endopeptidase activity, activation of cysteine-type endopeptidase activity, positive regulation of neurotrophin TRK receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of proteolysis, Fc-gamma receptor signaling pathway involved in phagocytosis, regulation of actin filament polymerization, apoptotic process, apoptotic process, cell morphogenesis, 1212 1268 1928 1182 1271 1820 1313 1011 1399 ENSG00000055208 chr6 149218641 149411613 + TAB2 protein_coding The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 23118 GO:0010008, GO:0005886, GO:0005829, GO:0005654, endosome membrane, plasma membrane, cytosol, nucleoplasm, GO:0070530, GO:0070530, GO:0046872, GO:0005515, K63-linked polyubiquitin modification-dependent protein binding, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, protein binding, GO:0070498, GO:0070423, GO:0051092, GO:0050852, GO:0045860, GO:0045860, GO:0043123, GO:0043123, GO:0038095, GO:0032496, GO:0010507, GO:0007507, GO:0007254, GO:0007249, GO:0002755, GO:0002223, GO:0000187, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, positive regulation of protein kinase activity, positive regulation of protein kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, Fc-epsilon receptor signaling pathway, response to lipopolysaccharide, negative regulation of autophagy, heart development, JNK cascade, I-kappaB kinase/NF-kappaB signaling, MyD88-dependent toll-like receptor signaling pathway, stimulatory C-type lectin receptor signaling pathway, activation of MAPK activity, 2576 2183 3793 1040 1723 1403 1333 1492 1236 ENSG00000055211 chr6 149566294 149591748 + GINM1 protein_coding 116254 GO:0016021, integral component of membrane, GO:0005515, protein binding, 444 389 582 125 257 206 130 225 207 ENSG00000055332 chr2 37099210 37157065 - EIF2AK2 protein_coding The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 5610 GO:0048471, GO:0022626, GO:0016020, GO:0005840, GO:0005829, GO:0005829, GO:0005737, GO:0005634, perinuclear region of cytoplasm, cytosolic ribosome, membrane, ribosome, cytosol, cytosol, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0042802, GO:0019888, GO:0005524, GO:0005515, GO:0004715, GO:0004694, GO:0004694, GO:0004674, GO:0004672, GO:0004672, GO:0004672, GO:0003725, GO:0003723, protein threonine kinase activity, protein serine kinase activity, identical protein binding, protein phosphatase regulator activity, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, eukaryotic translation initiation factor 2alpha kinase activity, eukaryotic translation initiation factor 2alpha kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, protein kinase activity, double-stranded RNA binding, RNA binding, GO:1902036, GO:1902033, GO:1901532, GO:1901224, GO:1900225, GO:0051607, GO:0051092, GO:0046777, GO:0046777, GO:0045087, GO:0045071, GO:0043666, GO:0043066, GO:0035455, GO:0034198, GO:0033689, GO:0032874, GO:0032722, GO:0030968, GO:0030683, GO:0018108, GO:0017148, GO:0017148, GO:0010998, GO:0009615, GO:0008285, GO:0006468, GO:0006412, GO:0001819, GO:0000186, regulation of hematopoietic stem cell differentiation, regulation of hematopoietic stem cell proliferation, regulation of hematopoietic progenitor cell differentiation, positive regulation of NIK/NF-kappaB signaling, regulation of NLRP3 inflammasome complex assembly, defense response to virus, positive regulation of NF-kappaB transcription factor activity, protein autophosphorylation, protein autophosphorylation, innate immune response, negative regulation of viral genome replication, regulation of phosphoprotein phosphatase activity, negative regulation of apoptotic process, response to interferon-alpha, cellular response to amino acid starvation, negative regulation of osteoblast proliferation, positive regulation of stress-activated MAPK cascade, positive regulation of chemokine production, endoplasmic reticulum unfolded protein response, mitigation of host immune response by virus, peptidyl-tyrosine phosphorylation, negative regulation of translation, negative regulation of translation, regulation of translational initiation by eIF2 alpha phosphorylation, response to virus, negative regulation of cell population proliferation, protein phosphorylation, translation, positive regulation of cytokine production, activation of MAPKK activity, 983 740 1339 501 622 839 648 536 689 ENSG00000055483 chr17 78787381 78841441 - USP36 protein_coding This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016]. 57602 GO:0016607, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, nuclear speck, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0005515, GO:0004843, GO:0004843, GO:0004197, GO:0003723, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, RNA binding, GO:2000232, GO:2000232, GO:1903955, GO:1903146, GO:0050821, GO:0042981, GO:0031647, GO:0016579, GO:0016579, GO:0016579, GO:0016578, GO:0016242, GO:0007000, GO:0007000, GO:0006511, regulation of rRNA processing, regulation of rRNA processing, positive regulation of protein targeting to mitochondrion, regulation of autophagy of mitochondrion, protein stabilization, regulation of apoptotic process, regulation of protein stability, protein deubiquitination, protein deubiquitination, protein deubiquitination, histone deubiquitination, negative regulation of macroautophagy, nucleolus organization, nucleolus organization, ubiquitin-dependent protein catabolic process, 432 320 743 981 318 794 1062 273 523 ENSG00000055609 chr7 152134922 152436005 - KMT2C protein_coding This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]. 58508 GO:0044666, GO:0044666, GO:0035097, GO:0005654, GO:0005634, MLL3/4 complex, MLL3/4 complex, histone methyltransferase complex, nucleoplasm, nucleus, GO:0046872, GO:0042800, GO:0042800, GO:0042393, GO:0042054, GO:0016746, GO:0005515, GO:0003723, GO:0003713, GO:0003677, metal ion binding, histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), histone binding, histone methyltransferase activity, transferase activity, transferring acyl groups, protein binding, RNA binding, transcription coactivator activity, DNA binding, GO:0097692, GO:0045944, GO:0045652, histone H3-K4 monomethylation, positive regulation of transcription by RNA polymerase II, regulation of megakaryocyte differentiation, 5481 6015 7227 2722 4204 4092 3437 3105 3459 ENSG00000055732 chr1 85018082 85048499 - MCOLN3 protein_coding This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 55283 GO:0031902, GO:0031901, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005765, GO:0000421, late endosome membrane, early endosome membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, lysosomal membrane, autophagosome membrane, GO:0072345, GO:0008289, NAADP-sensitive calcium-release channel activity, lipid binding, GO:0070588, GO:0051209, GO:0042491, GO:0007626, calcium ion transmembrane transport, release of sequestered calcium ion into cytosol, inner ear auditory receptor cell differentiation, locomotory behavior, 2 2 1 10 0 1 0 1 9 ENSG00000055813 chr2 56184123 56386173 + CCDC85A protein_coding 114800 GO:0005912, adherens junction, GO:0005515, protein binding, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000055917 chr2 20248691 20352234 - PUM2 protein_coding This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 23369 GO:0048471, GO:0031965, GO:0010494, GO:0010494, GO:0005829, GO:0005829, GO:0005737, perinuclear region of cytoplasm, nuclear membrane, cytoplasmic stress granule, cytoplasmic stress granule, cytosol, cytosol, cytoplasm, GO:0035198, GO:0005515, GO:0003730, GO:0003730, GO:0003729, GO:0003723, GO:0003723, miRNA binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, RNA binding, GO:2000637, GO:1900246, GO:0060964, GO:0051983, GO:0043488, GO:0043488, GO:0035196, GO:0035196, GO:0034063, GO:0010608, GO:0010608, GO:0010608, GO:0006417, positive regulation of gene silencing by miRNA, positive regulation of RIG-I signaling pathway, regulation of gene silencing by miRNA, regulation of chromosome segregation, regulation of mRNA stability, regulation of mRNA stability, production of miRNAs involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, stress granule assembly, posttranscriptional regulation of gene expression, posttranscriptional regulation of gene expression, posttranscriptional regulation of gene expression, regulation of translation, 2486 2379 2776 1189 1819 1584 1416 1440 1281 ENSG00000055950 chr10 100969458 100987515 - MRPL43 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]. 84545 GO:0005762, GO:0005762, GO:0005761, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 46 35 45 56 50 64 41 39 29 ENSG00000055955 chr3 52812975 52831479 - ITIH4 protein_coding The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 3700 GO:0072562, GO:0070062, GO:0062023, GO:0031089, GO:0005886, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, platelet dense granule lumen, plasma membrane, extracellular region, extracellular region, GO:0005515, GO:0004867, GO:0004866, protein binding, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0034097, GO:0030212, GO:0010951, GO:0006953, GO:0002576, response to cytokine, hyaluronan metabolic process, negative regulation of endopeptidase activity, acute-phase response, platelet degranulation, 5 6 4 1 11 20 8 12 10 ENSG00000055957 chr3 52777592 52792068 + ITIH1 protein_coding This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]. 3697 GO:0072562, GO:0070062, GO:0062023, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, extracellular region, GO:0005509, GO:0004867, calcium ion binding, serine-type endopeptidase inhibitor activity, GO:0030212, GO:0010951, hyaluronan metabolic process, negative regulation of endopeptidase activity, 0 4 3 0 0 0 0 0 0 ENSG00000056050 chr4 169729465 169757953 - HPF1 protein_coding 54969 GO:0005634, GO:0005634, nucleus, nucleus, GO:0072572, GO:0042393, GO:0042393, GO:0008270, GO:0005515, poly-ADP-D-ribose binding, histone binding, histone binding, zinc ion binding, protein binding, GO:0018312, GO:0018312, GO:0018312, GO:0010835, GO:0010835, GO:0006974, GO:0006974, peptidyl-serine ADP-ribosylation, peptidyl-serine ADP-ribosylation, peptidyl-serine ADP-ribosylation, regulation of protein ADP-ribosylation, regulation of protein ADP-ribosylation, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, 10 14 16 42 14 27 18 14 25 ENSG00000056097 chr5 32354350 32444761 - ZFR protein_coding This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]. 51663 GO:0005737, GO:0005694, cytoplasm, chromosome, GO:0008270, GO:0005515, GO:0003727, GO:0003725, GO:0003723, GO:0003677, zinc ion binding, protein binding, single-stranded RNA binding, double-stranded RNA binding, RNA binding, DNA binding, GO:0007275, multicellular organism development, 519 471 553 368 369 376 420 258 355 ENSG00000056277 chrX 130202711 130268899 - ZNF280C protein_coding This gene encodes a member of the zinc finger domain-containing protein family. This family member contains multiple Cys2-His2(C2H2)-type zinc finger domains, the most common type of zinc finger domain that self-folds to form a beta-beta-alpha structure that binds a zinc ion. [provided by RefSeq, Aug 2011]. 55609 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 11 12 16 14 16 21 12 2 17 ENSG00000056291 chr4 72031804 72148067 + NPFFR2 protein_coding This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]. 10886 GO:0015629, GO:0005887, GO:0005886, GO:0005886, actin cytoskeleton, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042277, GO:0031628, GO:0008188, GO:0004930, peptide binding, opioid receptor binding, neuropeptide receptor activity, G protein-coupled receptor activity, GO:2000479, GO:0045761, GO:0043408, GO:0009582, GO:0007218, GO:0007186, GO:0007186, regulation of cAMP-dependent protein kinase activity, regulation of adenylate cyclase activity, regulation of MAPK cascade, detection of abiotic stimulus, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000056487 chr22 44881162 45009999 - PHF21B protein_coding 112885 GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000056558 chr9 120902393 120929173 - TRAF1 protein_coding The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 7185 GO:0098802, GO:0009898, GO:0005829, GO:0005737, plasma membrane signaling receptor complex, cytoplasmic side of plasma membrane, cytosol, cytoplasm, GO:0042802, GO:0031996, GO:0031625, GO:0031625, GO:0008270, GO:0005515, GO:0005164, GO:0005164, identical protein binding, thioesterase binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, zinc ion binding, protein binding, tumor necrosis factor receptor binding, tumor necrosis factor receptor binding, GO:2001236, GO:0070534, GO:0065003, GO:0051092, GO:0046330, GO:0043122, GO:0033209, GO:0010803, GO:0006915, regulation of extrinsic apoptotic signaling pathway, protein K63-linked ubiquitination, protein-containing complex assembly, positive regulation of NF-kappaB transcription factor activity, positive regulation of JNK cascade, regulation of I-kappaB kinase/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, apoptotic process, 255 202 782 1014 157 1391 1455 198 1150 ENSG00000056586 chr9 122844556 122905341 - RC3H2 protein_coding 54542 GO:0043231, GO:0016020, GO:0010494, GO:0009986, GO:0000932, intracellular membrane-bounded organelle, membrane, cytoplasmic stress granule, cell surface, P-body, GO:0061630, GO:0061630, GO:0046872, GO:0035613, GO:0035613, GO:0003729, GO:0003725, GO:0003725, GO:0003723, GO:0003677, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, RNA stem-loop binding, RNA stem-loop binding, mRNA binding, double-stranded RNA binding, double-stranded RNA binding, RNA binding, DNA binding, GO:2000628, GO:2000320, GO:1901224, GO:0061470, GO:0060173, GO:0050852, GO:0048536, GO:0048535, GO:0048286, GO:0043488, GO:0043029, GO:0042098, GO:0035264, GO:0009791, GO:0006511, GO:0001782, GO:0000288, GO:0000209, GO:0000209, GO:0000209, regulation of miRNA metabolic process, negative regulation of T-helper 17 cell differentiation, positive regulation of NIK/NF-kappaB signaling, T follicular helper cell differentiation, limb development, T cell receptor signaling pathway, spleen development, lymph node development, lung alveolus development, regulation of mRNA stability, T cell homeostasis, T cell proliferation, multicellular organism growth, post-embryonic development, ubiquitin-dependent protein catabolic process, B cell homeostasis, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, protein polyubiquitination, protein polyubiquitination, protein polyubiquitination, 630 646 714 385 478 522 442 470 447 ENSG00000056736 chr3 53846580 53865800 + IL17RB protein_coding The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008]. 55540 GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005737, GO:0005576, membrane, cell surface, integral component of plasma membrane, plasma membrane, cytoplasm, extracellular region, GO:0030368, GO:0005515, GO:0004896, interleukin-17 receptor activity, protein binding, cytokine receptor activity, GO:0097400, GO:0050729, GO:0032754, GO:0032736, GO:0006952, GO:0001558, interleukin-17-mediated signaling pathway, positive regulation of inflammatory response, positive regulation of interleukin-5 production, positive regulation of interleukin-13 production, defense response, regulation of cell growth, 10 5 12 12 2 11 1 5 4 ENSG00000056972 chr6 111556454 111606278 - TRAF3IP2 protein_coding This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]. 10758 GO:0005575, cellular_component, GO:0061630, GO:0005515, GO:0005102, ubiquitin protein ligase activity, protein binding, signaling receptor binding, GO:0097400, GO:0070534, GO:0043123, GO:0043123, GO:0035556, GO:0006959, GO:0006954, GO:0002377, GO:0002230, GO:0001783, interleukin-17-mediated signaling pathway, protein K63-linked ubiquitination, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, intracellular signal transduction, humoral immune response, inflammatory response, immunoglobulin production, positive regulation of defense response to virus by host, B cell apoptotic process, 47 50 49 50 34 58 55 43 64 ENSG00000056998 chrX 2828788 2882820 + GYG2 protein_coding This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]. 8908 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0102751, GO:0046872, GO:0008466, GO:0008466, GO:0008466, UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity, metal ion binding, glycogenin glucosyltransferase activity, glycogenin glucosyltransferase activity, glycogenin glucosyltransferase activity, GO:0005978, GO:0005978, GO:0005978, GO:0005978, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000057019 chr3 98795941 98901689 - DCBLD2 protein_coding 131566 GO:0009986, GO:0005887, cell surface, integral component of plasma membrane, GO:0005515, protein binding, GO:0042060, GO:0030522, GO:0030308, wound healing, intracellular receptor signaling pathway, negative regulation of cell growth, 24 39 20 11 19 26 12 29 15 ENSG00000057149 chr18 63655197 63661963 - SERPINB3 protein_coding 6317 GO:0070062, GO:0035578, GO:0031982, GO:0031410, GO:0005737, GO:0005634, GO:0005634, GO:0005615, GO:0005576, extracellular exosome, azurophil granule lumen, vesicle, cytoplasmic vesicle, cytoplasm, nucleus, nucleus, extracellular space, extracellular region, GO:0004869, GO:0004867, GO:0004867, GO:0002020, GO:0001618, cysteine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, virus receptor activity, GO:0046718, GO:0045861, GO:0043508, GO:0043312, GO:0043086, GO:0038001, GO:0035425, GO:0030335, GO:0010951, GO:0010951, GO:0010950, GO:0010718, GO:0010466, GO:0008284, viral entry into host cell, negative regulation of proteolysis, negative regulation of JUN kinase activity, neutrophil degranulation, negative regulation of catalytic activity, paracrine signaling, autocrine signaling, positive regulation of cell migration, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, positive regulation of endopeptidase activity, positive regulation of epithelial to mesenchymal transition, negative regulation of peptidase activity, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000057252 chr1 179293714 179358680 + SOAT1 protein_coding The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]. 6646 GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0034736, GO:0034736, GO:0034736, GO:0015485, GO:0015485, GO:0008374, GO:0005515, GO:0004772, GO:0004772, GO:0000062, GO:0000062, cholesterol O-acyltransferase activity, cholesterol O-acyltransferase activity, cholesterol O-acyltransferase activity, cholesterol binding, cholesterol binding, O-acyltransferase activity, protein binding, sterol O-acyltransferase activity, sterol O-acyltransferase activity, fatty-acyl-CoA binding, fatty-acyl-CoA binding, GO:0042986, GO:0042632, GO:0034435, GO:0034435, GO:0034435, GO:0034383, GO:0034379, GO:0033344, GO:0033344, GO:0010878, GO:0010742, GO:0010742, GO:0010742, GO:0008203, GO:0008203, GO:0008203, positive regulation of amyloid precursor protein biosynthetic process, cholesterol homeostasis, cholesterol esterification, cholesterol esterification, cholesterol esterification, low-density lipoprotein particle clearance, very-low-density lipoprotein particle assembly, cholesterol efflux, cholesterol efflux, cholesterol storage, macrophage derived foam cell differentiation, macrophage derived foam cell differentiation, macrophage derived foam cell differentiation, cholesterol metabolic process, cholesterol metabolic process, cholesterol metabolic process, 674 444 595 370 423 479 423 329 349 ENSG00000057294 chr12 32790745 32896840 - PKP2 protein_coding This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]. 5318 GO:1990124, GO:0030057, GO:0030057, GO:0030054, GO:0016021, GO:0014704, GO:0014704, GO:0014704, GO:0005912, GO:0005911, GO:0005886, GO:0005886, GO:0005886, GO:0005882, GO:0005882, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0001533, messenger ribonucleoprotein complex, desmosome, desmosome, cell junction, integral component of membrane, intercalated disc, intercalated disc, intercalated disc, adherens junction, cell-cell junction, plasma membrane, plasma membrane, plasma membrane, intermediate filament, intermediate filament, cytoplasm, nucleoplasm, nucleus, nucleus, cornified envelope, GO:0086083, GO:0060090, GO:0060090, GO:0045296, GO:0045296, GO:0045294, GO:0045294, GO:0044325, GO:0019215, GO:0019215, GO:0017080, GO:0005515, GO:0005080, GO:0005080, cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication, molecular adaptor activity, molecular adaptor activity, cadherin binding, cadherin binding, alpha-catenin binding, alpha-catenin binding, ion channel binding, intermediate filament binding, intermediate filament binding, sodium channel regulator activity, protein binding, protein kinase C binding, protein kinase C binding, GO:0098911, GO:0098609, GO:0098609, GO:0098609, GO:0086091, GO:0086073, GO:0086064, GO:0086019, GO:0086019, GO:0086005, GO:0086002, GO:0072659, GO:0072659, GO:0070268, GO:0055010, GO:0048496, GO:0045110, GO:0045110, GO:0031424, GO:0010765, GO:0007507, GO:0007507, GO:0007043, GO:0002934, GO:0002159, regulation of ventricular cardiac muscle cell action potential, cell-cell adhesion, cell-cell adhesion, cell-cell adhesion, regulation of heart rate by cardiac conduction, bundle of His cell-Purkinje myocyte adhesion involved in cell communication, cell communication by electrical coupling involved in cardiac conduction, cell-cell signaling involved in cardiac conduction, cell-cell signaling involved in cardiac conduction, ventricular cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, protein localization to plasma membrane, protein localization to plasma membrane, cornification, ventricular cardiac muscle tissue morphogenesis, maintenance of animal organ identity, intermediate filament bundle assembly, intermediate filament bundle assembly, keratinization, positive regulation of sodium ion transport, heart development, heart development, cell-cell junction assembly, desmosome organization, desmosome assembly, 2 8 11 0 4 3 0 0 0 ENSG00000057468 chr1 75796882 75913238 + MSH4 protein_coding This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]. 4438 GO:0005713, GO:0005634, GO:0000795, recombination nodule, nucleus, synaptonemal complex, GO:0030983, GO:0008094, GO:0005524, GO:0005515, GO:0003677, mismatched DNA binding, DNA-dependent ATPase activity, ATP binding, protein binding, DNA binding, GO:0007292, GO:0007283, GO:0007129, GO:0001541, GO:0000712, GO:0000710, female gamete generation, spermatogenesis, homologous chromosome pairing at meiosis, ovarian follicle development, resolution of meiotic recombination intermediates, meiotic mismatch repair, 4 0 2 2 1 2 0 1 0 ENSG00000057593 chr13 113105788 113120681 + F7 protein_coding This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]. 2155 GO:1905286, GO:0062023, GO:0031982, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005576, serine-type peptidase complex, collagen-containing extracellular matrix, vesicle, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0008236, GO:0005515, GO:0005509, GO:0005102, GO:0004252, serine-type peptidase activity, protein binding, calcium ion binding, signaling receptor binding, serine-type endopeptidase activity, GO:1905225, GO:1905217, GO:1904612, GO:1904400, GO:0097068, GO:0070723, GO:0061476, GO:0060416, GO:0051897, GO:0050927, GO:0043627, GO:0033595, GO:0032571, GO:0032355, GO:0031100, GO:0030335, GO:0030194, GO:0016485, GO:0010641, GO:0010037, GO:0007623, GO:0007598, GO:0007596, GO:0007596, GO:0006888, GO:0002690, GO:0002690, GO:0001666, response to thyrotropin-releasing hormone, response to astaxanthin, response to 2,3,7,8-tetrachlorodibenzodioxine, response to Thyroid stimulating hormone, response to thyroxine, response to cholesterol, response to anticoagulant, response to growth hormone, positive regulation of protein kinase B signaling, positive regulation of positive chemotaxis, response to estrogen, response to genistein, response to vitamin K, response to estradiol, animal organ regeneration, positive regulation of cell migration, positive regulation of blood coagulation, protein processing, positive regulation of platelet-derived growth factor receptor signaling pathway, response to carbon dioxide, circadian rhythm, blood coagulation, extrinsic pathway, blood coagulation, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, positive regulation of leukocyte chemotaxis, positive regulation of leukocyte chemotaxis, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000057608 chr10 5765223 5842132 - GDI2 protein_coding GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 2665 GO:0070062, GO:0035578, GO:0034774, GO:0031982, GO:0016020, GO:0005925, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005576, extracellular exosome, azurophil granule lumen, secretory granule lumen, vesicle, membrane, focal adhesion, cytosol, Golgi apparatus, cytoplasm, cytoplasm, extracellular region, GO:0031267, GO:0005515, GO:0005096, GO:0005093, GO:0003723, small GTPase binding, protein binding, GTPase activator activity, Rab GDP-dissociation inhibitor activity, RNA binding, GO:0051056, GO:0043547, GO:0043312, GO:0016192, GO:0015031, GO:0007264, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, neutrophil degranulation, vesicle-mediated transport, protein transport, small GTPase mediated signal transduction, signal transduction, 1483 1289 1744 731 1032 937 829 986 752 ENSG00000057657 chr6 106086320 106109939 + PRDM1 protein_coding This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]. 639 GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1990841, GO:1990837, GO:0046872, GO:0042826, GO:0008168, GO:0005515, GO:0003700, GO:0001227, GO:0000978, GO:0000978, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, metal ion binding, histone deacetylase binding, methyltransferase activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990654, GO:0060976, GO:0060707, GO:0060576, GO:0051136, GO:0048844, GO:0045165, GO:0045087, GO:0042462, GO:0042127, GO:0035904, GO:0033082, GO:0032823, GO:0032259, GO:0010628, GO:0010468, GO:0009791, GO:0007281, GO:0006357, GO:0003281, GO:0003170, GO:0002250, GO:0001893, GO:0001822, GO:0001763, GO:0000122, sebum secreting cell proliferation, coronary vasculature development, trophoblast giant cell differentiation, intestinal epithelial cell development, regulation of NK T cell differentiation, artery morphogenesis, cell fate commitment, innate immune response, eye photoreceptor cell development, regulation of cell population proliferation, aorta development, regulation of extrathymic T cell differentiation, regulation of natural killer cell differentiation, methylation, positive regulation of gene expression, regulation of gene expression, post-embryonic development, germ cell development, regulation of transcription by RNA polymerase II, ventricular septum development, heart valve development, adaptive immune response, maternal placenta development, kidney development, morphogenesis of a branching structure, negative regulation of transcription by RNA polymerase II, 1114 1063 2451 140 195 259 246 169 168 ENSG00000057663 chr6 106045423 106325791 - ATG5 protein_coding The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. 9474 GO:0044233, GO:0034274, GO:0034045, GO:0034045, GO:0030670, GO:0016020, GO:0005930, GO:0005829, GO:0005776, GO:0005737, mitochondria-associated endoplasmic reticulum membrane, Atg12-Atg5-Atg16 complex, phagophore assembly site membrane, phagophore assembly site membrane, phagocytic vesicle membrane, membrane, axoneme, cytosol, autophagosome, cytoplasm, GO:0005515, protein binding, GO:2000619, GO:2000378, GO:1902017, GO:0075044, GO:0071500, GO:0070257, GO:0061739, GO:0060548, GO:0060047, GO:0055015, GO:0051279, GO:0050765, GO:0048840, GO:0045060, GO:0044804, GO:0043687, GO:0043066, GO:0042493, GO:0042311, GO:0039689, GO:0035973, GO:0031397, GO:0019883, GO:0016236, GO:0009620, GO:0006995, GO:0006915, GO:0006914, GO:0006914, GO:0006501, GO:0002718, GO:0001974, GO:0000422, GO:0000045, GO:0000045, negative regulation of histone H4-K16 acetylation, negative regulation of reactive oxygen species metabolic process, regulation of cilium assembly, positive regulation by symbiont of host autophagy, cellular response to nitrosative stress, positive regulation of mucus secretion, protein lipidation involved in autophagosome assembly, negative regulation of cell death, heart contraction, ventricular cardiac muscle cell development, regulation of release of sequestered calcium ion into cytosol, negative regulation of phagocytosis, otolith development, negative thymic T cell selection, autophagy of nucleus, post-translational protein modification, negative regulation of apoptotic process, response to drug, vasodilation, negative stranded viral RNA replication, aggrephagy, negative regulation of protein ubiquitination, antigen processing and presentation of endogenous antigen, macroautophagy, response to fungus, cellular response to nitrogen starvation, apoptotic process, autophagy, autophagy, C-terminal protein lipidation, regulation of cytokine production involved in immune response, blood vessel remodeling, autophagy of mitochondrion, autophagosome assembly, autophagosome assembly, 156 187 199 102 168 130 106 165 114 ENSG00000057704 chr12 94567124 94650562 - TMCC3 protein_coding 57458 GO:0016021, GO:0012505, GO:0005789, GO:0005783, integral component of membrane, endomembrane system, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0071889, GO:0042802, GO:0005515, 14-3-3 protein binding, identical protein binding, protein binding, 5435 4789 9132 579 1293 893 758 1074 911 ENSG00000057757 chr1 23778405 23788232 + PITHD1 protein_coding 57095 GO:0097598, GO:0005737, GO:0005634, GO:0005634, sperm cytoplasmic droplet, cytoplasm, nucleus, nucleus, GO:0061956, GO:0061136, GO:0045893, GO:0045654, GO:0007341, GO:0007286, penetration of cumulus oophorus, regulation of proteasomal protein catabolic process, positive regulation of transcription, DNA-templated, positive regulation of megakaryocyte differentiation, penetration of zona pellucida, spermatid development, 283 249 319 312 347 432 342 254 270 ENSG00000057935 chr2 42494569 42756947 + MTA3 protein_coding 57504 GO:0043231, GO:0016581, GO:0016581, GO:0005737, GO:0005654, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, NuRD complex, NuRD complex, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, GO:0044877, GO:0043565, GO:0042826, GO:0008270, GO:0005515, GO:0003714, GO:0003713, GO:0003682, GO:0001103, protein-containing complex binding, sequence-specific DNA binding, histone deacetylase binding, zinc ion binding, protein binding, transcription corepressor activity, transcription coactivator activity, chromatin binding, RNA polymerase II repressing transcription factor binding, GO:1903508, GO:0045892, GO:0016575, GO:0010971, GO:0008284, GO:0000122, positive regulation of nucleic acid-templated transcription, negative regulation of transcription, DNA-templated, histone deacetylation, positive regulation of G2/M transition of mitotic cell cycle, positive regulation of cell population proliferation, negative regulation of transcription by RNA polymerase II, 11 9 12 42 12 36 26 14 48 ENSG00000058056 chr3 179652755 179789401 + USP13 protein_coding 8975 GO:0005829, GO:0005829, GO:0005654, GO:0005634, cytosol, cytosol, nucleoplasm, nucleus, GO:1990380, GO:1904288, GO:0070628, GO:0051087, GO:0044389, GO:0043130, GO:0031625, GO:0008270, GO:0005515, GO:0004843, GO:0004843, GO:0004197, GO:0004197, Lys48-specific deubiquitinase activity, BAT3 complex binding, proteasome binding, chaperone binding, ubiquitin-like protein ligase binding, ubiquitin binding, ubiquitin protein ligase binding, zinc ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:1904378, GO:1904294, GO:0071108, GO:0070536, GO:0050821, GO:0050821, GO:0044313, GO:0035523, GO:0030318, GO:0016579, GO:0016579, GO:0010506, GO:0008283, GO:0006914, GO:0006511, GO:0006355, maintenance of unfolded protein involved in ERAD pathway, positive regulation of ERAD pathway, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein stabilization, protein stabilization, protein K6-linked deubiquitination, protein K29-linked deubiquitination, melanocyte differentiation, protein deubiquitination, protein deubiquitination, regulation of autophagy, cell population proliferation, autophagy, ubiquitin-dependent protein catabolic process, regulation of transcription, DNA-templated, 4 7 16 26 8 38 17 6 35 ENSG00000058063 chr3 182793500 182921635 + ATP11B protein_coding P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]. 23200 GO:0055038, GO:0055037, GO:0055037, GO:0035577, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005802, GO:0005783, GO:0005783, GO:0005769, GO:0005637, recycling endosome membrane, recycling endosome, recycling endosome, azurophil granule membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, trans-Golgi network, endoplasmic reticulum, endoplasmic reticulum, early endosome, nuclear inner membrane, GO:0140326, GO:0140326, GO:0015075, GO:0005524, GO:0005515, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATPase-coupled intramembrane lipid transporter activity, ion transmembrane transporter activity, ATP binding, protein binding, magnesium ion binding, GO:0045332, GO:0045332, GO:0043312, GO:0034220, GO:0015917, GO:0006811, phospholipid translocation, phospholipid translocation, neutrophil degranulation, ion transmembrane transport, aminophospholipid transport, ion transport, 2330 1884 4289 1085 1367 2063 1356 1126 1850 ENSG00000058085 chr1 183186238 183244900 + LAMC2 protein_coding Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]. 3918 GO:0062023, GO:0048471, GO:0016020, GO:0005938, GO:0005615, GO:0005607, GO:0005604, GO:0005576, collagen-containing extracellular matrix, perinuclear region of cytoplasm, membrane, cell cortex, extracellular space, laminin-2 complex, basement membrane, extracellular region, GO:0008201, GO:0005201, GO:0005102, heparin binding, extracellular matrix structural constituent, signaling receptor binding, GO:0031581, GO:0030335, GO:0030198, GO:0016358, GO:0009888, GO:0009887, GO:0008544, GO:0008284, GO:0008045, GO:0007155, hemidesmosome assembly, positive regulation of cell migration, extracellular matrix organization, dendrite development, tissue development, animal organ morphogenesis, epidermis development, positive regulation of cell population proliferation, motor neuron axon guidance, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000058091 chr7 90466424 91210590 + CDK14 protein_coding PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]. 5218 GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000308, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, cytoplasmic cyclin-dependent protein kinase holoenzyme complex, GO:0030332, GO:0030332, GO:0005524, GO:0005515, GO:0004693, GO:0004693, cyclin binding, cyclin binding, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, GO:0060828, GO:0051726, GO:0051301, GO:0016055, GO:0006468, GO:0000086, GO:0000083, regulation of canonical Wnt signaling pathway, regulation of cell cycle, cell division, Wnt signaling pathway, protein phosphorylation, G2/M transition of mitotic cell cycle, regulation of transcription involved in G1/S transition of mitotic cell cycle, 342 319 481 119 239 285 144 198 245 ENSG00000058262 chr3 128051641 128071683 + SEC61A1 protein_coding The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]. 29927 GO:0030176, GO:0016020, GO:0005829, GO:0005789, GO:0005784, integral component of endoplasmic reticulum membrane, membrane, cytosol, endoplasmic reticulum membrane, Sec61 translocon complex, GO:0043022, GO:0043022, GO:0008320, GO:0005515, GO:0005262, GO:0005048, ribosome binding, ribosome binding, protein transmembrane transporter activity, protein binding, calcium channel activity, signal sequence binding, GO:0070588, GO:0045047, GO:0039019, GO:0034341, GO:0031204, GO:0031204, GO:0007029, GO:0006620, GO:0006616, GO:0006614, GO:0006613, calcium ion transmembrane transport, protein targeting to ER, pronephric nephron development, response to interferon-gamma, posttranslational protein targeting to membrane, translocation, posttranslational protein targeting to membrane, translocation, endoplasmic reticulum organization, posttranslational protein targeting to endoplasmic reticulum membrane, SRP-dependent cotranslational protein targeting to membrane, translocation, SRP-dependent cotranslational protein targeting to membrane, cotranslational protein targeting to membrane, 511 575 633 483 487 600 459 424 378 ENSG00000058272 chr12 79773563 79935460 - PPP1R12A protein_coding Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]. 4659 GO:0072357, GO:0043292, GO:0031672, GO:0031672, GO:0030018, GO:0030018, GO:0015629, GO:0005925, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0000776, PTW/PP1 phosphatase complex, contractile fiber, A band, A band, Z disc, Z disc, actin cytoskeleton, focal adhesion, plasma membrane, cytosol, cytosol, centrosome, cytoplasm, nucleolus, nucleoplasm, kinetochore, GO:0071889, GO:0019901, GO:0019208, GO:0019208, GO:0019208, GO:0005515, GO:0004857, GO:0004857, 14-3-3 protein binding, protein kinase binding, phosphatase regulator activity, phosphatase regulator activity, phosphatase regulator activity, protein binding, enzyme inhibitor activity, enzyme inhibitor activity, GO:1903140, GO:0046822, GO:0045944, GO:0043086, GO:0035690, GO:0035508, GO:0035508, GO:0035507, GO:0030155, GO:0007165, GO:0007098, GO:0006470, GO:0000278, GO:0000086, regulation of establishment of endothelial barrier, regulation of nucleocytoplasmic transport, positive regulation of transcription by RNA polymerase II, negative regulation of catalytic activity, cellular response to drug, positive regulation of myosin-light-chain-phosphatase activity, positive regulation of myosin-light-chain-phosphatase activity, regulation of myosin-light-chain-phosphatase activity, regulation of cell adhesion, signal transduction, centrosome cycle, protein dephosphorylation, mitotic cell cycle, G2/M transition of mitotic cell cycle, 3320 3069 4017 2123 2873 2875 2630 2094 2364 ENSG00000058335 chr15 78959947 79090773 - RASGRF1 protein_coding The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]. 5923 GO:0043005, GO:0030426, GO:0005886, GO:0005886, GO:0005829, neuron projection, growth cone, plasma membrane, plasma membrane, cytosol, GO:0035254, GO:0005085, GO:0005085, glutamate receptor binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000310, GO:0090630, GO:0048168, GO:0048167, GO:0046579, GO:0046579, GO:0046578, GO:0043547, GO:0035023, GO:0035020, GO:0034976, GO:0031175, GO:0008283, GO:0007616, GO:0007264, GO:0007165, GO:0000165, regulation of NMDA receptor activity, activation of GTPase activity, regulation of neuronal synaptic plasticity, regulation of synaptic plasticity, positive regulation of Ras protein signal transduction, positive regulation of Ras protein signal transduction, regulation of Ras protein signal transduction, positive regulation of GTPase activity, regulation of Rho protein signal transduction, regulation of Rac protein signal transduction, response to endoplasmic reticulum stress, neuron projection development, cell population proliferation, long-term memory, small GTPase mediated signal transduction, signal transduction, MAPK cascade, 0 0 2 2 2 2 4 0 0 ENSG00000058404 chr7 44217150 44334577 - CAMK2B protein_coding The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 816 GO:0045202, GO:0043005, GO:0033017, GO:0030666, GO:0005954, GO:0005829, GO:0005815, GO:0005737, GO:0005654, synapse, neuron projection, sarcoplasmic reticulum membrane, endocytic vesicle membrane, calcium- and calmodulin-dependent protein kinase complex, cytosol, microtubule organizing center, cytoplasm, nucleoplasm, GO:0042803, GO:0042802, GO:0005524, GO:0005516, GO:0005515, GO:0004683, GO:0003779, protein homodimerization activity, identical protein binding, ATP binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, actin binding, GO:2001222, GO:1900034, GO:0090129, GO:0061003, GO:0060998, GO:0060333, GO:0051924, GO:0051823, GO:0048169, GO:0046777, GO:0014733, GO:0010976, GO:0007165, GO:0006468, regulation of neuron migration, regulation of cellular response to heat, positive regulation of synapse maturation, positive regulation of dendritic spine morphogenesis, regulation of dendritic spine development, interferon-gamma-mediated signaling pathway, regulation of calcium ion transport, regulation of synapse structural plasticity, regulation of long-term neuronal synaptic plasticity, protein autophosphorylation, regulation of skeletal muscle adaptation, positive regulation of neuron projection development, signal transduction, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000058453 chr1 16740273 16972979 + CROCC protein_coding 9696 GO:0120219, GO:0097729, GO:0070062, GO:0035253, GO:0015629, GO:0005886, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0001917, subapical part of cell, 9+2 motile cilium, extracellular exosome, ciliary rootlet, actin cytoskeleton, plasma membrane, cytosol, centriole, centriole, centrosome, photoreceptor inner segment, GO:0019894, GO:0005515, GO:0005200, GO:0005198, GO:0003779, kinesin binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, actin binding, GO:1903566, GO:0051656, GO:0045724, GO:0045494, GO:0033365, GO:0032053, GO:0010669, GO:0010457, GO:0008104, GO:0007098, positive regulation of protein localization to cilium, establishment of organelle localization, positive regulation of cilium assembly, photoreceptor cell maintenance, protein localization to organelle, ciliary basal body organization, epithelial structure maintenance, centriole-centriole cohesion, protein localization, centrosome cycle, 96 70 154 175 57 190 154 54 152 ENSG00000058600 chr16 22297375 22335103 + POLR3E protein_coding 55718 GO:0005829, GO:0005666, GO:0005666, GO:0005654, GO:0005654, cytosol, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, nucleoplasm, GO:0003899, DNA-directed 5'-3' RNA polymerase activity, GO:0051607, GO:0045087, GO:0032481, GO:0006351, defense response to virus, innate immune response, positive regulation of type I interferon production, transcription, DNA-templated, 87 80 225 117 41 138 147 53 120 ENSG00000058668 chr1 203626561 203744081 + ATP2B4 protein_coding The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 493 GO:0099059, GO:0098978, GO:0097228, GO:0045121, GO:0043231, GO:0043005, GO:0036126, GO:0032991, GO:0030315, GO:0030018, GO:0016323, GO:0016020, GO:0016020, GO:0005901, GO:0005887, GO:0005887, GO:0005886, GO:0005886, integral component of presynaptic active zone membrane, glutamatergic synapse, sperm principal piece, membrane raft, intracellular membrane-bounded organelle, neuron projection, sperm flagellum, protein-containing complex, T-tubule, Z disc, basolateral plasma membrane, membrane, membrane, caveola, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0097110, GO:0050998, GO:0048306, GO:0046872, GO:0036487, GO:0036487, GO:0030346, GO:0030346, GO:0030346, GO:0030165, GO:0019901, GO:0019829, GO:0017080, GO:0015085, GO:0005524, GO:0005516, GO:0005515, GO:0005388, GO:0005388, scaffold protein binding, nitric-oxide synthase binding, calcium-dependent protein binding, metal ion binding, nitric-oxide synthase inhibitor activity, nitric-oxide synthase inhibitor activity, protein phosphatase 2B binding, protein phosphatase 2B binding, protein phosphatase 2B binding, PDZ domain binding, protein kinase binding, ATPase-coupled cation transmembrane transporter activity, sodium channel regulator activity, calcium ion transmembrane transporter activity, ATP binding, calmodulin binding, protein binding, calcium transmembrane transporter activity, phosphorylative mechanism, calcium transmembrane transporter activity, phosphorylative mechanism, GO:2000481, GO:1905145, GO:1903779, GO:1903249, GO:1903243, GO:1903078, GO:1902806, GO:1902548, GO:1902305, GO:1902083, GO:1901660, GO:1900082, GO:0150104, GO:0140199, GO:0098736, GO:0098703, GO:0097553, GO:0071872, GO:0070885, GO:0070885, GO:0070588, GO:0051599, GO:0051480, GO:0051001, GO:0045019, GO:0043537, GO:0034220, GO:0033138, GO:0030317, GO:0021766, GO:0016525, GO:0014832, GO:0010751, GO:0010629, GO:0007283, GO:0006874, GO:0006874, GO:0006874, GO:0006874, GO:0006357, GO:0003407, positive regulation of cAMP-dependent protein kinase activity, cellular response to acetylcholine, regulation of cardiac conduction, negative regulation of citrulline biosynthetic process, negative regulation of cardiac muscle hypertrophy in response to stress, positive regulation of protein localization to plasma membrane, regulation of cell cycle G1/S phase transition, negative regulation of cellular response to vascular endothelial growth factor stimulus, regulation of sodium ion transmembrane transport, negative regulation of peptidyl-cysteine S-nitrosylation, calcium ion export, negative regulation of arginine catabolic process, transport across blood-brain barrier, negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process, negative regulation of the force of heart contraction, calcium ion import across plasma membrane, calcium ion transmembrane import into cytosol, cellular response to epinephrine stimulus, negative regulation of calcineurin-NFAT signaling cascade, negative regulation of calcineurin-NFAT signaling cascade, calcium ion transmembrane transport, response to hydrostatic pressure, regulation of cytosolic calcium ion concentration, negative regulation of nitric-oxide synthase activity, negative regulation of nitric oxide biosynthetic process, negative regulation of blood vessel endothelial cell migration, ion transmembrane transport, positive regulation of peptidyl-serine phosphorylation, flagellated sperm motility, hippocampus development, negative regulation of angiogenesis, urinary bladder smooth muscle contraction, negative regulation of nitric oxide mediated signal transduction, negative regulation of gene expression, spermatogenesis, cellular calcium ion homeostasis, cellular calcium ion homeostasis, cellular calcium ion homeostasis, cellular calcium ion homeostasis, regulation of transcription by RNA polymerase II, neural retina development, 2048 2201 2864 1241 1460 1965 1449 1217 1503 ENSG00000058673 chr1 203795654 203854999 + ZC3H11A protein_coding 9877 GO:0005654, GO:0000346, GO:0000346, nucleoplasm, transcription export complex, transcription export complex, GO:0046872, GO:0005515, GO:0003729, GO:0003723, metal ion binding, protein binding, mRNA binding, RNA binding, GO:0031124, GO:0016973, GO:0016973, GO:0006406, GO:0006405, mRNA 3'-end processing, poly(A)+ mRNA export from nucleus, poly(A)+ mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 16 14 22 15 21 37 24 10 26 ENSG00000058729 chr5 97160867 97183260 - RIOK2 protein_coding 55781 GO:0030688, GO:0030688, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, preribosome, small subunit precursor, preribosome, small subunit precursor, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein kinase activity, GO:2000234, GO:2000208, GO:0046777, GO:0042274, GO:0030490, GO:0030490, GO:0030071, GO:0007049, positive regulation of rRNA processing, positive regulation of ribosomal small subunit export from nucleus, protein autophosphorylation, ribosomal small subunit biogenesis, maturation of SSU-rRNA, maturation of SSU-rRNA, regulation of mitotic metaphase/anaphase transition, cell cycle, 34 21 38 60 27 43 38 35 27 ENSG00000058799 chr1 53851719 53889834 - YIPF1 protein_coding 54432 GO:0031902, GO:0030133, GO:0016021, GO:0005802, GO:0005797, GO:0005794, GO:0000138, late endosome membrane, transport vesicle, integral component of membrane, trans-Golgi network, Golgi medial cisterna, Golgi apparatus, Golgi trans cisterna, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0016192, vesicle-mediated transport, 382 280 377 159 279 185 219 238 180 ENSG00000058804 chr1 53765460 53838860 - NDC1 protein_coding 55706 GO:0070762, GO:0043657, GO:0031965, GO:0016021, GO:0016020, GO:0015629, GO:0005886, GO:0005737, GO:0005643, GO:0005635, nuclear pore transmembrane ring, host cell, nuclear membrane, integral component of membrane, membrane, actin cytoskeleton, plasma membrane, cytoplasm, nuclear pore, nuclear envelope, GO:0017056, GO:0017056, structural constituent of nuclear pore, structural constituent of nuclear pore, GO:1900034, GO:0075733, GO:0060964, GO:0051664, GO:0051292, GO:0019083, GO:0016925, GO:0016032, GO:0015031, GO:0007283, GO:0007129, GO:0006999, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, nuclear pore localization, nuclear pore complex assembly, viral transcription, protein sumoylation, viral process, protein transport, spermatogenesis, homologous chromosome pairing at meiosis, nuclear pore organization, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 12 16 25 37 27 58 12 10 12 ENSG00000058866 chr3 186105668 186362237 - DGKG protein_coding This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1608 GO:0016020, GO:0005886, GO:0005886, GO:0005856, GO:0005829, membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0008289, GO:0005524, GO:0005509, GO:0004143, GO:0004143, GO:0003951, lipid binding, ATP binding, calcium ion binding, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:0090038, GO:0050773, GO:0048666, GO:0046834, GO:0046834, GO:0046486, GO:0046339, GO:0046339, GO:0035556, GO:0030168, GO:0007205, GO:0006654, negative regulation of protein kinase C signaling, regulation of dendrite development, neuron development, lipid phosphorylation, lipid phosphorylation, glycerolipid metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, intracellular signal transduction, platelet activation, protein kinase C-activating G protein-coupled receptor signaling pathway, phosphatidic acid biosynthetic process, 139 219 249 80 199 150 97 150 122 ENSG00000059122 chr16 2911937 2951208 + FLYWCH1 protein_coding 84256 GO:0016604, GO:0005829, GO:0005654, nuclear body, cytosol, nucleoplasm, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 35 30 51 134 27 105 134 19 58 ENSG00000059145 chr16 1363205 1414751 - UNKL protein_coding This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 64718 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0046872, GO:0016740, GO:0005515, metal ion binding, transferase activity, protein binding, GO:0000209, protein polyubiquitination, 870 1094 1091 736 984 1011 829 784 853 ENSG00000059377 chr7 139777051 140020325 + TBXAS1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 6916 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0106256, GO:0036134, GO:0020037, GO:0016705, GO:0005506, GO:0004796, GO:0004796, GO:0004796, GO:0004796, GO:0004497, hydroperoxy icosatetraenoate dehydratase activity, 12-hydroxyheptadecatrienoic acid synthase activity, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, iron ion binding, thromboxane-A synthase activity, thromboxane-A synthase activity, thromboxane-A synthase activity, thromboxane-A synthase activity, monooxygenase activity, GO:0055114, GO:0019371, GO:0006690, GO:0006690, GO:0001516, oxidation-reduction process, cyclooxygenase pathway, icosanoid metabolic process, icosanoid metabolic process, prostaglandin biosynthetic process, 3592 3159 3270 1297 2232 1452 1780 2002 1435 ENSG00000059378 chr7 140023744 140063721 - PARP12 protein_coding 64761 GO:0005634, nucleus, GO:1990404, GO:0046872, GO:0003950, GO:0003723, protein ADP-ribosylase activity, metal ion binding, NAD+ ADP-ribosyltransferase activity, RNA binding, GO:0140289, GO:0070213, protein mono-ADP-ribosylation, protein auto-ADP-ribosylation, 356 380 563 512 588 649 512 405 521 ENSG00000059573 chr10 95605929 95656706 - ALDH18A1 protein_coding This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]. 5832 GO:0005743, GO:0005739, GO:0005739, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0042802, GO:0005524, GO:0005515, GO:0004350, GO:0004350, GO:0004350, GO:0004349, GO:0004349, GO:0003723, identical protein binding, ATP binding, protein binding, glutamate-5-semialdehyde dehydrogenase activity, glutamate-5-semialdehyde dehydrogenase activity, glutamate-5-semialdehyde dehydrogenase activity, glutamate 5-kinase activity, glutamate 5-kinase activity, RNA binding, GO:0055129, GO:0055114, GO:0019240, GO:0016310, GO:0008652, GO:0006592, GO:0006561, GO:0006536, L-proline biosynthetic process, oxidation-reduction process, citrulline biosynthetic process, phosphorylation, cellular amino acid biosynthetic process, ornithine biosynthetic process, proline biosynthetic process, glutamate metabolic process, 11 5 38 57 32 66 51 19 49 ENSG00000059588 chr1 234391313 234479103 - TARBP1 protein_coding HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]. 6894 GO:0005634, nucleus, GO:0016423, GO:0003723, tRNA (guanine) methyltransferase activity, RNA binding, GO:0030488, GO:0006357, tRNA methylation, regulation of transcription by RNA polymerase II, 42 43 61 114 37 147 103 42 88 ENSG00000059691 chr4 151670504 151761023 - GATB protein_coding 5188 GO:0030956, GO:0030956, GO:0005739, GO:0005739, GO:0005739, glutamyl-tRNA(Gln) amidotransferase complex, glutamyl-tRNA(Gln) amidotransferase complex, mitochondrion, mitochondrion, mitochondrion, GO:0050567, GO:0050567, GO:0005524, GO:0005515, glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity, glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity, ATP binding, protein binding, GO:0070681, GO:0070681, GO:0032543, GO:0032543, glutaminyl-tRNAGln biosynthesis via transamidation, glutaminyl-tRNAGln biosynthesis via transamidation, mitochondrial translation, mitochondrial translation, 2 0 10 22 1 15 18 6 24 ENSG00000059728 chr2 69897688 69942945 + MXD1 protein_coding This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]. 4084 GO:0005829, GO:0005739, GO:0005654, GO:0000785, GO:0000785, GO:0000785, cytosol, mitochondrion, nucleoplasm, chromatin, chromatin, chromatin, GO:0046983, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, protein dimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 29208 32366 45393 5939 13656 10480 9991 12452 11178 ENSG00000059758 chr12 96278261 96400560 - CDK17 protein_coding The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]. 5128 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0004693, GO:0004672, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein kinase activity, GO:0051726, GO:0006468, GO:0000083, regulation of cell cycle, protein phosphorylation, regulation of transcription involved in G1/S transition of mitotic cell cycle, 783 943 917 687 1008 956 800 760 742 ENSG00000059769 chr9 111631352 111654351 + DNAJC25 protein_coding 548645 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0006457, protein folding, 53 56 59 84 71 102 52 54 86 ENSG00000059804 chr12 7919230 7936275 - SLC2A3 protein_coding 6515 GO:0101003, GO:0070821, GO:0070062, GO:0043204, GO:0042995, GO:0035579, GO:0030667, GO:0016021, GO:0005887, GO:0005886, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, extracellular exosome, perikaryon, cell projection, specific granule membrane, secretory granule membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005536, GO:0005515, GO:0005355, glucose binding, protein binding, glucose transmembrane transporter activity, GO:1904659, GO:1904659, GO:0150104, GO:0098708, GO:0043312, GO:0019852, GO:0005975, glucose transmembrane transport, glucose transmembrane transport, transport across blood-brain barrier, glucose import across plasma membrane, neutrophil degranulation, L-ascorbic acid metabolic process, carbohydrate metabolic process, 10261 15753 16237 9315 17883 17134 11795 15389 14697 ENSG00000059915 chr10 102402617 102421539 - PSD protein_coding This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 5662 GO:0099092, GO:0098999, GO:0043197, GO:0032587, GO:0032154, postsynaptic density, intracellular component, extrinsic component of postsynaptic endosome membrane, dendritic spine, ruffle membrane, cleavage furrow, GO:0005543, GO:0005515, GO:0005085, phospholipid binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0032012, GO:0031175, GO:0007165, regulation of ARF protein signal transduction, neuron projection development, signal transduction, 16 23 48 36 53 134 67 42 129 ENSG00000060069 chr18 79679801 79756623 + CTDP1 protein_coding This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]. 9150 GO:0051233, GO:0043231, GO:0032991, GO:0030496, GO:0005819, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000922, spindle midzone, intracellular membrane-bounded organelle, protein-containing complex, midbody, spindle, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, spindle pole, GO:0106307, GO:0106306, GO:0030957, GO:0008420, GO:0008420, GO:0005515, GO:0004721, GO:0001096, protein threonine phosphatase activity, protein serine phosphatase activity, Tat protein binding, RNA polymerase II CTD heptapeptide repeat phosphatase activity, RNA polymerase II CTD heptapeptide repeat phosphatase activity, protein binding, phosphoprotein phosphatase activity, TFIIF-class transcription factor complex binding, GO:0070940, GO:0051301, GO:0050434, GO:0043923, GO:0010458, GO:0006470, GO:0006368, GO:0006366, dephosphorylation of RNA polymerase II C-terminal domain, cell division, positive regulation of viral transcription, positive regulation by host of viral transcription, exit from mitosis, protein dephosphorylation, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 483 423 550 311 439 384 291 265 250 ENSG00000060138 chr12 10699089 10723312 - YBX3 protein_coding 8531 GO:0048471, GO:0005923, GO:0005829, GO:0005737, GO:0005634, GO:0005634, perinuclear region of cytoplasm, bicellular tight junction, cytosol, cytoplasm, nucleus, nucleus, GO:1905538, GO:0031267, GO:0005515, GO:0003730, GO:0003723, GO:0003676, GO:0001227, GO:0000977, polysome binding, small GTPase binding, protein binding, mRNA 3'-UTR binding, RNA binding, nucleic acid binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000767, GO:1902219, GO:0071474, GO:0071356, GO:0070935, GO:0060546, GO:0048642, GO:0046622, GO:0010468, GO:0009566, GO:0008584, GO:0007283, GO:0001701, GO:0000122, positive regulation of cytoplasmic translation, negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress, cellular hyperosmotic response, cellular response to tumor necrosis factor, 3'-UTR-mediated mRNA stabilization, negative regulation of necroptotic process, negative regulation of skeletal muscle tissue development, positive regulation of organ growth, regulation of gene expression, fertilization, male gonad development, spermatogenesis, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 1457 1194 916 1145 1217 792 1146 871 625 ENSG00000060140 chr12 10618939 10674318 - STYK1 protein_coding Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]. 55359 GO:0031234, GO:0016021, GO:0005886, extrinsic component of cytoplasmic side of plasma membrane, integral component of membrane, plasma membrane, GO:0005524, GO:0005515, GO:0005102, GO:0004715, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, GO:0045087, GO:0042127, GO:0038083, GO:0030154, GO:0007169, innate immune response, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, cell differentiation, transmembrane receptor protein tyrosine kinase signaling pathway, 6 2 3 4 5 10 4 0 12 ENSG00000060237 chr12 752593 911452 + WNK1 protein_coding This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]. 65125 GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, membrane, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0030295, GO:0019902, GO:0019901, GO:0019870, GO:0019869, GO:0019869, GO:0005524, GO:0005515, GO:0004860, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, protein kinase activator activity, phosphatase binding, protein kinase binding, potassium channel inhibitor activity, chloride channel inhibitor activity, chloride channel inhibitor activity, ATP binding, protein binding, protein kinase inhibitor activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000651, GO:1990869, GO:1904062, GO:1903288, GO:1903038, GO:0097022, GO:0090263, GO:0050852, GO:0050801, GO:0050794, GO:0048666, GO:0038116, GO:0035556, GO:0035556, GO:0035556, GO:0034260, GO:0034115, GO:0033633, GO:0032147, GO:0023016, GO:0018107, GO:0018107, GO:0018107, GO:0018105, GO:0010923, GO:0010820, GO:0010766, GO:0006811, GO:0006469, GO:0006468, GO:0006468, GO:0006468, GO:0002028, positive regulation of sodium ion transmembrane transporter activity, cellular response to chemokine, regulation of cation transmembrane transport, positive regulation of potassium ion import across plasma membrane, negative regulation of leukocyte cell-cell adhesion, lymphocyte migration into lymph node, positive regulation of canonical Wnt signaling pathway, T cell receptor signaling pathway, ion homeostasis, regulation of cellular process, neuron development, chemokine (C-C motif) ligand 21 signaling pathway, intracellular signal transduction, intracellular signal transduction, intracellular signal transduction, negative regulation of GTPase activity, negative regulation of heterotypic cell-cell adhesion, negative regulation of cell-cell adhesion mediated by integrin, activation of protein kinase activity, signal transduction by trans-phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, negative regulation of phosphatase activity, positive regulation of T cell chemotaxis, negative regulation of sodium ion transport, ion transport, negative regulation of protein kinase activity, protein phosphorylation, protein phosphorylation, protein phosphorylation, regulation of sodium ion transport, 6062 7231 7827 2207 3469 2822 2614 2865 2614 ENSG00000060303 chr6 50857255 50857662 - RPS17P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000060339 chr10 68721012 68792377 + CCAR1 protein_coding 55749 GO:0048471, GO:0005654, GO:0005641, GO:0005634, perinuclear region of cytoplasm, nucleoplasm, nuclear envelope lumen, nucleus, GO:0030374, GO:0030374, GO:0005515, GO:0003723, GO:0003714, GO:0003713, GO:0003713, GO:0000978, nuclear receptor coactivator activity, nuclear receptor coactivator activity, protein binding, RNA binding, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903508, GO:1903507, GO:0043065, GO:0030335, GO:0008284, GO:0007049, GO:0006915, GO:0006355, GO:0000398, positive regulation of nucleic acid-templated transcription, negative regulation of nucleic acid-templated transcription, positive regulation of apoptotic process, positive regulation of cell migration, positive regulation of cell population proliferation, cell cycle, apoptotic process, regulation of transcription, DNA-templated, mRNA splicing, via spliceosome, 239 228 338 355 254 440 337 190 308 ENSG00000060491 chr20 62804835 62814000 + OGFR protein_coding The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008]. 11054 GO:0016020, GO:0005737, GO:0005634, GO:0005575, membrane, cytoplasm, nucleus, cellular_component, GO:0005515, GO:0004985, protein binding, opioid receptor activity, GO:0038003, GO:0001558, opioid receptor signaling pathway, regulation of cell growth, 1335 1342 1722 898 1225 868 871 925 774 ENSG00000060558 chr19 3136193 3163769 + GNA15 protein_coding 2769 GO:0045202, GO:0005886, GO:0005834, GO:0005834, synapse, plasma membrane, heterotrimeric G-protein complex, heterotrimeric G-protein complex, GO:0046872, GO:0031826, GO:0031683, GO:0005525, GO:0003924, GO:0001664, GO:0001664, metal ion binding, type 2A serotonin receptor binding, G-protein beta/gamma-subunit complex binding, GTP binding, GTPase activity, G protein-coupled receptor binding, G protein-coupled receptor binding, GO:0060158, GO:0051482, GO:0030168, GO:0007207, GO:0007202, GO:0007188, GO:0007186, GO:0001508, phospholipase C-activating dopamine receptor signaling pathway, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, platelet activation, phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway, activation of phospholipase C activity, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, action potential, 156 192 309 76 95 62 104 98 85 ENSG00000060566 chr19 4153601 4173054 + CREB3L3 protein_coding This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 84699 GO:0016021, GO:0016020, GO:0005829, GO:0005789, GO:0005783, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000139, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, nucleus, nucleus, chromatin, Golgi membrane, GO:0046982, GO:0042803, GO:0035497, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, protein heterodimerization activity, protein homodimerization activity, cAMP response element binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990440, GO:0045944, GO:0030968, GO:0006357, GO:0002675, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of transcription by RNA polymerase II, endoplasmic reticulum unfolded protein response, regulation of transcription by RNA polymerase II, positive regulation of acute inflammatory response, 0 1 0 0 0 0 0 0 0 ENSG00000060642 chr1 26787472 26798398 + PIGV protein_coding This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]. 55650 GO:0031501, GO:0016021, GO:0005789, GO:0005789, GO:0005789, mannosyltransferase complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, GO:0004376, GO:0000030, GO:0000030, GO:0000030, GO:0000009, protein binding, glycolipid mannosyltransferase activity, mannosyltransferase activity, mannosyltransferase activity, mannosyltransferase activity, alpha-1,6-mannosyltransferase activity, GO:0097502, GO:0016254, GO:0006506, GO:0006506, GO:0006506, mannosylation, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 39 71 82 28 77 50 31 54 29 ENSG00000060656 chr1 29236516 29326813 + PTPRU protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]. 10076 GO:0005911, GO:0005887, GO:0005886, cell-cell junction, integral component of plasma membrane, plasma membrane, GO:0008013, GO:0005515, GO:0005001, GO:0004725, GO:0004725, GO:0004725, beta-catenin binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:2000049, GO:0090090, GO:0051384, GO:0035335, GO:0034394, GO:0034109, GO:0031100, GO:0030336, GO:0030154, GO:0008285, GO:0007185, GO:0007155, GO:0006470, GO:0006470, positive regulation of cell-cell adhesion mediated by cadherin, negative regulation of canonical Wnt signaling pathway, response to glucocorticoid, peptidyl-tyrosine dephosphorylation, protein localization to cell surface, homotypic cell-cell adhesion, animal organ regeneration, negative regulation of cell migration, cell differentiation, negative regulation of cell population proliferation, transmembrane receptor protein tyrosine phosphatase signaling pathway, cell adhesion, protein dephosphorylation, protein dephosphorylation, 0 0 2 0 1 4 0 0 0 ENSG00000060688 chr1 31259568 31296782 - SNRNP40 protein_coding This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]. 9410 GO:0071013, GO:0071007, GO:0016607, GO:0005829, GO:0005732, GO:0005682, GO:0005654, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear speck, cytosol, small nucleolar ribonucleoprotein complex, U5 snRNP, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0008380, GO:0006396, GO:0000398, GO:0000398, GO:0000375, RNA splicing, RNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 37 39 67 67 61 66 50 36 64 ENSG00000060709 chr12 130396137 130716281 - RIMBP2 protein_coding 23504 GO:0045202, GO:0005886, synapse, plasma membrane, GO:0010923, GO:0007274, negative regulation of phosphatase activity, neuromuscular synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000060718 chr1 102876467 103108872 - COL11A1 protein_coding This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]. 1301 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005592, GO:0005592, GO:0005592, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type XI trimer, collagen type XI trimer, collagen type XI trimer, extracellular region, GO:1904399, GO:0050840, GO:0046872, GO:0030674, GO:0030020, GO:0008201, GO:0005201, GO:0005201, heparan sulfate binding, extracellular matrix binding, metal ion binding, protein-macromolecule adaptor activity, extracellular matrix structural constituent conferring tensile strength, heparin binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0055010, GO:0050910, GO:0048704, GO:0042472, GO:0035989, GO:0035987, GO:0030199, GO:0030198, GO:0030198, GO:0007605, GO:0007601, GO:0006029, GO:0002063, GO:0001503, GO:0001502, ventricular cardiac muscle tissue morphogenesis, detection of mechanical stimulus involved in sensory perception of sound, embryonic skeletal system morphogenesis, inner ear morphogenesis, tendon development, endodermal cell differentiation, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, sensory perception of sound, visual perception, proteoglycan metabolic process, chondrocyte development, ossification, cartilage condensation, 0 0 0 5 0 0 0 0 0 ENSG00000060749 chr11 32892820 32993316 + QSER1 protein_coding 79832 17 22 32 43 37 39 49 15 49 ENSG00000060762 chr6 166364919 166383013 - MPC1 protein_coding The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]. 51660 GO:0031305, GO:0005739, integral component of mitochondrial inner membrane, mitochondrion, GO:0050833, GO:0005515, GO:0003674, pyruvate transmembrane transporter activity, protein binding, molecular_function, GO:1990830, GO:0061732, GO:0008150, GO:0006850, cellular response to leukemia inhibitory factor, mitochondrial acetyl-CoA biosynthetic process from pyruvate, biological_process, mitochondrial pyruvate transmembrane transport, 178 230 318 121 209 203 112 136 209 ENSG00000060971 chr3 38103129 38137242 - ACAA1 protein_coding This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 30 GO:0043231, GO:0035580, GO:0016020, GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005576, intracellular membrane-bounded organelle, specific granule lumen, membrane, cytosol, peroxisomal matrix, peroxisome, peroxisome, extracellular region, GO:0050633, GO:0016401, GO:0008775, GO:0005515, GO:0003988, GO:0003988, GO:0003988, acetyl-CoA C-myristoyltransferase activity, palmitoyl-CoA oxidase activity, acetate CoA-transferase activity, protein binding, acetyl-CoA C-acyltransferase activity, acetyl-CoA C-acyltransferase activity, acetyl-CoA C-acyltransferase activity, GO:0043312, GO:0036109, GO:0033540, GO:0010124, GO:0008206, GO:0008206, GO:0006635, GO:0006635, GO:0006635, GO:0006625, GO:0000038, neutrophil degranulation, alpha-linolenic acid metabolic process, fatty acid beta-oxidation using acyl-CoA oxidase, phenylacetate catabolic process, bile acid metabolic process, bile acid metabolic process, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, protein targeting to peroxisome, very long-chain fatty acid metabolic process, 976 1083 1312 851 1094 948 761 893 922 ENSG00000060982 chr12 24810022 24949459 - BCAT1 protein_coding This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]. 586 GO:0005829, GO:0005739, cytosol, mitochondrion, GO:0052656, GO:0052655, GO:0052654, GO:0042802, GO:0004084, L-isoleucine transaminase activity, L-valine transaminase activity, L-leucine transaminase activity, identical protein binding, branched-chain-amino-acid transaminase activity, GO:0009099, GO:0009098, GO:0009083, GO:0009082, GO:0000082, valine biosynthetic process, leucine biosynthetic process, branched-chain amino acid catabolic process, branched-chain amino acid biosynthetic process, G1/S transition of mitotic cell cycle, 10 6 6 5 5 15 7 5 13 ENSG00000061273 chr12 47782722 47833132 - HDAC7 protein_coding Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 51564 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000118, cytosol, cytoplasm, nucleoplasm, nucleus, histone deacetylase complex, GO:0071889, GO:0070491, GO:0046872, GO:0033613, GO:0033558, GO:0032041, GO:0019901, GO:0005515, GO:0005080, GO:0003714, GO:0003682, 14-3-3 protein binding, repressing transcription factor binding, metal ion binding, activating transcription factor binding, protein deacetylase activity, NAD-dependent histone deacetylase activity (H3-K14 specific), protein kinase binding, protein binding, protein kinase C binding, transcription corepressor activity, chromatin binding, GO:1901223, GO:0090050, GO:0070932, GO:0045668, GO:0032703, GO:0007043, GO:0006476, GO:0001570, GO:0000122, negative regulation of NIK/NF-kappaB signaling, positive regulation of cell migration involved in sprouting angiogenesis, histone H3 deacetylation, negative regulation of osteoblast differentiation, negative regulation of interleukin-2 production, cell-cell junction assembly, protein deacetylation, vasculogenesis, negative regulation of transcription by RNA polymerase II, 2045 2277 2579 1860 2474 2331 2061 1936 2098 ENSG00000061337 chr8 20246165 20303963 - LZTS1 protein_coding This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009]. 11178 GO:0045211, GO:0044297, GO:0043198, GO:0043197, GO:0016324, GO:0014069, GO:0005737, postsynaptic membrane, cell body, dendritic shaft, dendritic spine, apical plasma membrane, postsynaptic density, cytoplasm, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0048814, GO:0048167, GO:0044772, GO:0016242, regulation of dendrite morphogenesis, regulation of synaptic plasticity, mitotic cell cycle phase transition, negative regulation of macroautophagy, 0 0 15 7 6 23 5 11 8 ENSG00000061455 chr5 123089121 123194266 + PRDM6 protein_coding The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]. 93166 GO:0005634, nucleus, GO:0046872, GO:0042802, GO:0008168, GO:0005515, metal ion binding, identical protein binding, methyltransferase activity, protein binding, GO:0051151, GO:0032259, GO:0022008, GO:0010468, GO:0006325, GO:0000122, negative regulation of smooth muscle cell differentiation, methylation, neurogenesis, regulation of gene expression, chromatin organization, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 1 0 0 0 ENSG00000061492 chr5 138083892 138092365 + WNT8A protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]. 7478 GO:0062023, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, extracellular space, extracellular space, extracellular region, GO:0048018, GO:0048018, GO:0005125, GO:0005109, GO:0005109, receptor ligand activity, receptor ligand activity, cytokine activity, frizzled binding, frizzled binding, GO:1904886, GO:0062009, GO:0061317, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0045165, GO:0044335, GO:0044324, GO:0032526, GO:0030182, GO:0016055, GO:0014034, beta-catenin destruction complex disassembly, secondary palate development, canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, cell fate commitment, canonical Wnt signaling pathway involved in neural crest cell differentiation, regulation of transcription involved in anterior/posterior axis specification, response to retinoic acid, neuron differentiation, Wnt signaling pathway, neural crest cell fate commitment, 0 0 0 0 0 0 0 0 0 ENSG00000061656 chr20 35615892 35621049 + SPAG4 protein_coding The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 6676 GO:0034993, GO:0031514, GO:0016021, GO:0005856, GO:0005737, GO:0005637, GO:0005635, meiotic nuclear membrane microtubule tethering complex, motile cilium, integral component of membrane, cytoskeleton, cytoplasm, nuclear inner membrane, nuclear envelope, GO:0043495, GO:0005515, GO:0005198, protein-membrane adaptor activity, protein binding, structural molecule activity, GO:0030154, GO:0007283, GO:0006998, cell differentiation, spermatogenesis, nuclear envelope organization, 31 38 47 41 43 59 31 30 62 ENSG00000061676 chr2 182909115 183038858 - NCKAP1 protein_coding 10787 GO:0070062, GO:0031941, GO:0031258, GO:0031209, GO:0031209, GO:0030027, GO:0016021, GO:0005925, GO:0005829, GO:0001726, extracellular exosome, filamentous actin, lamellipodium membrane, SCAR complex, SCAR complex, lamellipodium, integral component of membrane, focal adhesion, cytosol, ruffle, GO:0031267, GO:0031267, GO:0005515, small GTPase binding, small GTPase binding, protein binding, GO:2000601, GO:0048812, GO:0048010, GO:0038096, GO:0030866, GO:0030838, GO:0030031, GO:0016601, GO:0016477, GO:0016032, GO:0010592, GO:0010592, GO:0007417, GO:0006915, GO:0000902, positive regulation of Arp2/3 complex-mediated actin nucleation, neuron projection morphogenesis, vascular endothelial growth factor receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, cortical actin cytoskeleton organization, positive regulation of actin filament polymerization, cell projection assembly, Rac protein signal transduction, cell migration, viral process, positive regulation of lamellipodium assembly, positive regulation of lamellipodium assembly, central nervous system development, apoptotic process, cell morphogenesis, 6 3 6 12 3 4 13 5 5 ENSG00000061794 chr12 27710773 27756295 + MRPS35 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]. 60488 GO:0005763, GO:0005763, GO:0005763, GO:0005743, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0042769, mitochondrial translational termination, mitochondrial translational elongation, DNA damage response, detection of DNA damage, 14 15 15 59 10 55 44 14 20 ENSG00000061918 chr4 155758992 155807591 + GUCY1B1 protein_coding This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 2983 GO:0048786, GO:0008074, presynaptic active zone, guanylate cyclase complex, soluble, GO:0046872, GO:0038023, GO:0020037, GO:0005525, GO:0005515, GO:0004383, metal ion binding, signaling receptor activity, heme binding, GTP binding, protein binding, guanylate cyclase activity, GO:0099555, GO:0071732, GO:0038060, GO:0019934, GO:0008015, GO:0007263, GO:0006182, trans-synaptic signaling by nitric oxide, modulating synaptic transmission, cellular response to nitric oxide, nitric oxide-cGMP-mediated signaling pathway, cGMP-mediated signaling, blood circulation, nitric oxide mediated signal transduction, cGMP biosynthetic process, 2 0 1 2 2 0 0 4 0 ENSG00000061936 chr12 131711081 131799737 + SFSWAP protein_coding This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]. 6433 GO:0005634, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0048025, GO:0000395, GO:0000380, negative regulation of mRNA splicing, via spliceosome, mRNA 5'-splice site recognition, alternative mRNA splicing, via spliceosome, 483 559 614 379 508 410 447 425 388 ENSG00000061938 chr3 195863364 195911945 - TNK2 protein_coding This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]. 10188 GO:0097268, GO:0070436, GO:0048471, GO:0031234, GO:0030659, GO:0030136, GO:0016020, GO:0005912, GO:0005905, GO:0005886, GO:0005829, GO:0005768, GO:0005737, GO:0005634, cytoophidium, Grb2-EGFR complex, perinuclear region of cytoplasm, extrinsic component of cytoplasmic side of plasma membrane, cytoplasmic vesicle membrane, clathrin-coated vesicle, membrane, adherens junction, clathrin-coated pit, plasma membrane, cytosol, endosome, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0050699, GO:0046872, GO:0042802, GO:0031625, GO:0005524, GO:0005515, GO:0005154, GO:0005102, GO:0005095, GO:0004715, GO:0004713, GO:0004712, protein threonine kinase activity, protein serine kinase activity, WW domain binding, metal ion binding, identical protein binding, ubiquitin protein ligase binding, ATP binding, protein binding, epidermal growth factor receptor binding, signaling receptor binding, GTPase inhibitor activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, GO:2000369, GO:0050731, GO:0045087, GO:0042127, GO:0038083, GO:0034260, GO:0030154, GO:0016310, GO:0007264, GO:0007169, GO:0007166, GO:0006897, regulation of clathrin-dependent endocytosis, positive regulation of peptidyl-tyrosine phosphorylation, innate immune response, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, negative regulation of GTPase activity, cell differentiation, phosphorylation, small GTPase mediated signal transduction, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, endocytosis, 1042 1545 1921 1081 1911 2003 1274 1477 1645 ENSG00000061987 chr12 62466817 62600479 + MON2 protein_coding 23041 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0005515, protein binding, GO:0015031, GO:0006895, protein transport, Golgi to endosome transport, 922 1002 1100 781 899 876 930 678 711 ENSG00000062038 chr16 68636189 68722616 + CDH3 protein_coding This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]. 1001 GO:0030054, GO:0016342, GO:0016021, GO:0005912, GO:0005886, GO:0005886, GO:0005737, cell junction, catenin complex, integral component of membrane, adherens junction, plasma membrane, plasma membrane, cytoplasm, GO:0045296, GO:0005509, GO:0003674, cadherin binding, calcium ion binding, molecular_function, GO:1902910, GO:0098742, GO:0090263, GO:0060901, GO:0051796, GO:0048023, GO:0043568, GO:0042493, GO:0042060, GO:0034332, GO:0032912, GO:0032773, GO:0031424, GO:0022405, GO:0010838, GO:0010628, GO:0007601, GO:0007156, GO:0007155, GO:0001895, positive regulation of melanosome transport, cell-cell adhesion via plasma-membrane adhesion molecules, positive regulation of canonical Wnt signaling pathway, regulation of hair cycle by canonical Wnt signaling pathway, negative regulation of timing of catagen, positive regulation of melanin biosynthetic process, positive regulation of insulin-like growth factor receptor signaling pathway, response to drug, wound healing, adherens junction organization, negative regulation of transforming growth factor beta2 production, positive regulation of monophenol monooxygenase activity, keratinization, hair cycle process, positive regulation of keratinocyte proliferation, positive regulation of gene expression, visual perception, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000062096 chrX 3041471 3112726 + ARSF protein_coding This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]. 416 GO:0070062, GO:0005788, extracellular exosome, endoplasmic reticulum lumen, GO:0046872, GO:0004065, metal ion binding, arylsulfatase activity, 0 0 0 0 0 0 0 0 0 ENSG00000062194 chr5 57173948 57264679 + GPBP1 protein_coding This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]. 65056 GO:0043231, GO:0005886, GO:0005829, GO:0005634, intracellular membrane-bounded organelle, plasma membrane, cytosol, nucleus, GO:0005515, GO:0003723, GO:0003677, protein binding, RNA binding, DNA binding, GO:0045893, GO:0006355, GO:0006351, positive regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, transcription, DNA-templated, 2059 1570 3768 1319 1379 1465 1253 987 1074 ENSG00000062282 chr11 75759512 75801535 + DGAT2 protein_coding This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 84649 GO:1990578, GO:0048471, GO:0030176, GO:0030176, GO:0016021, GO:0005811, GO:0005811, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0005739, perinuclear endoplasmic reticulum membrane, perinuclear region of cytoplasm, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, integral component of membrane, lipid droplet, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, GO:0050252, GO:0042803, GO:0008374, GO:0005515, GO:0004144, GO:0004144, GO:0004144, GO:0003846, retinol O-fatty-acyltransferase activity, protein homodimerization activity, O-acyltransferase activity, protein binding, diacylglycerol O-acyltransferase activity, diacylglycerol O-acyltransferase activity, diacylglycerol O-acyltransferase activity, 2-acylglycerol O-acyltransferase activity, GO:0097006, GO:0090181, GO:0071400, GO:0060613, GO:0055089, GO:0050746, GO:0046339, GO:0046339, GO:0046322, GO:0045722, GO:0042632, GO:0042572, GO:0038183, GO:0036155, GO:0035356, GO:0035336, GO:0034383, GO:0019915, GO:0019432, GO:0019432, GO:0019432, GO:0019432, GO:0010867, GO:0006651, GO:0006640, GO:0006629, GO:0006071, regulation of plasma lipoprotein particle levels, regulation of cholesterol metabolic process, cellular response to oleic acid, fat pad development, fatty acid homeostasis, regulation of lipoprotein metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, negative regulation of fatty acid oxidation, positive regulation of gluconeogenesis, cholesterol homeostasis, retinol metabolic process, bile acid signaling pathway, acylglycerol acyl-chain remodeling, cellular triglyceride homeostasis, long-chain fatty-acyl-CoA metabolic process, low-density lipoprotein particle clearance, lipid storage, triglyceride biosynthetic process, triglyceride biosynthetic process, triglyceride biosynthetic process, triglyceride biosynthetic process, positive regulation of triglyceride biosynthetic process, diacylglycerol biosynthetic process, monoacylglycerol biosynthetic process, lipid metabolic process, glycerol metabolic process, 8221 7606 9775 2282 3299 3217 2913 2703 2960 ENSG00000062370 chr19 44326555 44367217 - ZNF112 protein_coding 7771 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 1 0 0 0 0 ENSG00000062485 chr12 56271699 56300392 - CS protein_coding The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008]. 1431 GO:0070062, GO:0005759, GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005634, extracellular exosome, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0004108, GO:0004108, GO:0003723, citrate (Si)-synthase activity, citrate (Si)-synthase activity, RNA binding, GO:0006101, GO:0006099, GO:0006099, GO:0006099, GO:0005975, GO:0005975, citrate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, carbohydrate metabolic process, carbohydrate metabolic process, 457 426 810 512 502 568 528 302 474 ENSG00000062524 chr15 41503638 41513887 - LTK protein_coding The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 4058 GO:0043235, GO:0016020, GO:0005887, GO:0005886, receptor complex, membrane, integral component of plasma membrane, plasma membrane, GO:0005524, GO:0005515, GO:0004714, GO:0004713, GO:0004672, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, GO:0071300, GO:0045664, GO:0043066, GO:0042127, GO:0033674, GO:0018108, GO:0014065, GO:0010976, GO:0010666, GO:0008283, GO:0007275, GO:0007169, GO:0007165, GO:0006468, cellular response to retinoic acid, regulation of neuron differentiation, negative regulation of apoptotic process, regulation of cell population proliferation, positive regulation of kinase activity, peptidyl-tyrosine phosphorylation, phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, positive regulation of cardiac muscle cell apoptotic process, cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, protein phosphorylation, 18 12 19 55 20 48 46 12 38 ENSG00000062582 chr7 43866558 43869893 - MRPS24 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene. [provided by RefSeq, Mar 2011]. 64951 GO:0005763, GO:0005763, GO:0005743, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0032543, GO:0008150, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, biological_process, 5 0 1 3 5 18 4 6 5 ENSG00000062598 chr20 46366049 46432985 - ELMO2 protein_coding The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 63916 GO:0016020, GO:0005829, GO:0005829, membrane, cytosol, cytosol, GO:0031267, GO:0030971, GO:0017124, GO:0005515, small GTPase binding, receptor tyrosine kinase binding, SH3 domain binding, protein binding, GO:0098609, GO:0060326, GO:0048870, GO:0048010, GO:0038096, GO:0007015, GO:0006915, cell-cell adhesion, cell chemotaxis, cell motility, vascular endothelial growth factor receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, actin filament organization, apoptotic process, 355 446 624 327 468 548 360 318 350 ENSG00000062650 chr10 86435256 86521815 - WAPL protein_coding 23063 GO:0005829, GO:0005737, GO:0005694, GO:0005654, GO:0005634, GO:0000795, GO:0000785, GO:0000775, cytosol, cytoplasm, chromosome, nucleoplasm, nucleus, synaptonemal complex, chromatin, chromosome, centromeric region, GO:0005515, protein binding, GO:0071922, GO:0071922, GO:0071168, GO:0060623, GO:0051301, GO:0048146, GO:0045875, GO:0045132, GO:0035562, GO:0016032, GO:0009636, GO:0008156, GO:0000278, regulation of cohesin loading, regulation of cohesin loading, protein localization to chromatin, regulation of chromosome condensation, cell division, positive regulation of fibroblast proliferation, negative regulation of sister chromatid cohesion, meiotic chromosome segregation, negative regulation of chromatin binding, viral process, response to toxic substance, negative regulation of DNA replication, mitotic cell cycle, 2064 1384 2465 680 714 825 757 589 657 ENSG00000062716 chr17 59707192 59842255 + VMP1 protein_coding This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]. 81671 GO:0033116, GO:0016021, GO:0016020, GO:0012505, GO:0005886, GO:0005783, GO:0005783, GO:0005730, GO:0000421, GO:0000407, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, membrane, endomembrane system, plasma membrane, endoplasmic reticulum, endoplasmic reticulum, nucleolus, autophagosome membrane, phagophore assembly site, GO:0005515, protein binding, GO:0098609, GO:0034329, GO:0007566, GO:0007030, GO:0006914, GO:0000045, cell-cell adhesion, cell junction assembly, embryo implantation, Golgi organization, autophagy, autophagosome assembly, 13151 9663 13208 4913 7723 6740 6772 7458 6414 ENSG00000062725 chr17 60443149 60526219 - APPBP2 protein_coding The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 10513 GO:0030659, GO:0005875, GO:0005874, GO:0005737, GO:0005634, cytoplasmic vesicle membrane, microtubule associated complex, microtubule, cytoplasm, nucleus, GO:0005515, GO:0003777, protein binding, microtubule motor activity, GO:0046907, GO:0006886, intracellular transport, intracellular protein transport, 290 298 273 248 363 221 245 248 225 ENSG00000062822 chr19 50384204 50418016 + POLD1 protein_coding This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]. 5424 GO:0043625, GO:0043625, GO:0016235, GO:0016020, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000781, GO:0000109, delta DNA polymerase complex, delta DNA polymerase complex, aggresome, membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, nucleotide-excision repair complex, GO:0051539, GO:0046872, GO:0008296, GO:0005515, GO:0003887, GO:0003887, GO:0003684, GO:0003682, GO:0003677, GO:0000166, 4 iron, 4 sulfur cluster binding, metal ion binding, 3'-5'-exodeoxyribonuclease activity, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, damaged DNA binding, chromatin binding, DNA binding, nucleotide binding, GO:0071897, GO:0070987, GO:0055089, GO:0045004, GO:0042769, GO:0034644, GO:0033683, GO:0032201, GO:0019985, GO:0009411, GO:0006298, GO:0006297, GO:0006297, GO:0006297, GO:0006297, GO:0006296, GO:0006287, GO:0006287, GO:0006283, GO:0006281, GO:0006261, GO:0006260, GO:0000731, GO:0000731, GO:0000723, DNA biosynthetic process, error-free translesion synthesis, fatty acid homeostasis, DNA replication proofreading, DNA damage response, detection of DNA damage, cellular response to UV, nucleotide-excision repair, DNA incision, telomere maintenance via semi-conservative replication, translesion synthesis, response to UV, mismatch repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, base-excision repair, gap-filling, base-excision repair, gap-filling, transcription-coupled nucleotide-excision repair, DNA repair, DNA-dependent DNA replication, DNA replication, DNA synthesis involved in DNA repair, DNA synthesis involved in DNA repair, telomere maintenance, 15 29 17 41 36 48 31 32 27 ENSG00000063015 chr17 28954901 29006440 - SEZ6 protein_coding The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]. 124925 GO:0097440, GO:0048471, GO:0043198, GO:0043197, GO:0043025, GO:0016021, GO:0005886, GO:0005783, apical dendrite, perinuclear region of cytoplasm, dendritic shaft, dendritic spine, neuronal cell body, integral component of membrane, plasma membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0090036, GO:0060079, GO:0060074, GO:0050773, GO:0021680, GO:0008344, regulation of protein kinase C signaling, excitatory postsynaptic potential, synapse maturation, regulation of dendrite development, cerebellar Purkinje cell layer development, adult locomotory behavior, 22 31 34 27 33 35 27 25 39 ENSG00000063046 chr12 53006158 53042209 + EIF4B protein_coding 1975 GO:0016281, GO:0005829, GO:0005829, eukaryotic translation initiation factor 4F complex, cytosol, cytosol, GO:0043024, GO:0034057, GO:0033592, GO:0005515, GO:0003743, GO:0003723, ribosomal small subunit binding, RNA strand-exchange activity, RNA strand annealing activity, protein binding, translation initiation factor activity, RNA binding, GO:0097010, GO:0006446, GO:0006413, GO:0001731, eukaryotic translation initiation factor 4F complex assembly, regulation of translational initiation, translational initiation, formation of translation preinitiation complex, 2115 1892 2571 2463 1788 2709 2327 1421 1965 ENSG00000063127 chr19 49289638 49325225 - SLC6A16 protein_coding SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008]. 28968 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015293, GO:0005326, symporter activity, neurotransmitter transmembrane transporter activity, GO:0035725, GO:0006836, sodium ion transmembrane transport, neurotransmitter transport, 15 26 27 34 41 56 34 24 22 ENSG00000063169 chr19 47608196 47703277 + BICRA protein_coding 29998 GO:0016514, GO:0016514, GO:0005634, SWI/SNF complex, SWI/SNF complex, nucleus, GO:0005515, GO:0003713, GO:0003713, protein binding, transcription coactivator activity, transcription coactivator activity, GO:0045893, GO:0045893, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, 360 473 429 296 430 251 322 262 270 ENSG00000063176 chr19 48619291 48630717 + SPHK2 protein_coding This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. 56848 GO:0043231, GO:0043231, GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005783, GO:0005765, GO:0005743, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0000786, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, membrane, membrane, cytosol, cytosol, endoplasmic reticulum, lysosomal membrane, mitochondrial inner membrane, mitochondrion, cytoplasm, cytoplasm, nucleus, nucleosome, GO:0038036, GO:0031493, GO:0031267, GO:0017050, GO:0017050, GO:0008481, GO:0005524, GO:0005515, GO:0003951, GO:0001727, sphingosine-1-phosphate receptor activity, nucleosomal histone binding, small GTPase binding, D-erythro-sphingosine kinase activity, D-erythro-sphingosine kinase activity, sphinganine kinase activity, ATP binding, protein binding, NAD+ kinase activity, lipid kinase activity, GO:2001169, GO:2000617, GO:2000304, GO:1904959, GO:1904628, GO:1903426, GO:1901726, GO:0090280, GO:0090037, GO:0046834, GO:0046512, GO:0046512, GO:0046512, GO:0045815, GO:0043980, GO:0043977, GO:0043306, GO:0043122, GO:0043065, GO:0043065, GO:0033008, GO:0032640, GO:0032635, GO:0032616, GO:0031064, GO:0030308, GO:0030148, GO:0016310, GO:0008284, GO:0007565, GO:0007420, GO:0006670, GO:0006669, GO:0006669, GO:0006665, GO:0003376, GO:0002367, GO:0001568, regulation of ATP biosynthetic process, positive regulation of histone H3-K9 acetylation, positive regulation of ceramide biosynthetic process, regulation of cytochrome-c oxidase activity, cellular response to phorbol 13-acetate 12-myristate, regulation of reactive oxygen species biosynthetic process, negative regulation of histone deacetylase activity, positive regulation of calcium ion import, positive regulation of protein kinase C signaling, lipid phosphorylation, sphingosine biosynthetic process, sphingosine biosynthetic process, sphingosine biosynthetic process, positive regulation of gene expression, epigenetic, histone H2B-K12 acetylation, histone H2A-K5 acetylation, positive regulation of mast cell degranulation, regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of mast cell activation involved in immune response, tumor necrosis factor production, interleukin-6 production, interleukin-13 production, negative regulation of histone deacetylation, negative regulation of cell growth, sphingolipid biosynthetic process, phosphorylation, positive regulation of cell population proliferation, female pregnancy, brain development, sphingosine metabolic process, sphinganine-1-phosphate biosynthetic process, sphinganine-1-phosphate biosynthetic process, sphingolipid metabolic process, sphingosine-1-phosphate receptor signaling pathway, cytokine production involved in immune response, blood vessel development, 31 42 47 44 67 52 50 51 61 ENSG00000063177 chr19 48615328 48619536 - RPL18 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 6141 GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, GO:0005829, GO:0005791, GO:0005783, GO:0005730, GO:0005634, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, cytosol, rough endoplasmic reticulum, endoplasmic reticulum, nucleolus, nucleus, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 528 387 723 1530 778 1540 1111 624 1084 ENSG00000063180 chr19 48637942 48646312 - CA11 protein_coding Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]. 770 GO:0016323, GO:0005576, basolateral plasma membrane, extracellular region, GO:0016836, GO:0008270, GO:0004089, hydro-lyase activity, zinc ion binding, carbonate dehydratase activity, GO:0006730, one-carbon metabolic process, 1 2 7 17 6 16 20 8 17 ENSG00000063241 chr19 55452985 55462343 - ISOC2 protein_coding 79763 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0005515, protein binding, GO:0031648, protein destabilization, 2 5 4 16 3 0 4 6 8 ENSG00000063244 chr19 55654146 55674715 + U2AF2 protein_coding U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]. 11338 GO:0089701, GO:0089701, GO:0071004, GO:0071004, GO:0016607, GO:0016607, GO:0005681, GO:0005654, GO:0005634, GO:0000974, GO:0000243, U2AF complex, U2AF complex, U2-type prespliceosome, U2-type prespliceosome, nuclear speck, nuclear speck, spliceosomal complex, nucleoplasm, nucleus, Prp19 complex, commitment complex, GO:0070742, GO:0030628, GO:0030628, GO:0019899, GO:0008187, GO:0005515, GO:0003723, C2H2 zinc finger domain binding, pre-mRNA 3'-splice site binding, pre-mRNA 3'-splice site binding, enzyme binding, poly-pyrimidine tract binding, protein binding, RNA binding, GO:0048025, GO:0033120, GO:0031397, GO:0031397, GO:0031124, GO:0006406, GO:0006405, GO:0006397, GO:0000398, GO:0000398, GO:0000398, negative regulation of mRNA splicing, via spliceosome, positive regulation of RNA splicing, negative regulation of protein ubiquitination, negative regulation of protein ubiquitination, mRNA 3'-end processing, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1536 1518 1983 1202 1438 1466 1222 1162 1363 ENSG00000063245 chr19 55675226 55709858 + EPN1 protein_coding This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016]. 29924 GO:0043231, GO:0030125, GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005768, GO:0005634, intracellular membrane-bounded organelle, clathrin vesicle coat, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, endosome, nucleus, GO:0030276, GO:0005543, GO:0005515, clathrin binding, phospholipid binding, protein binding, GO:1903671, GO:0061024, GO:0048568, GO:0042059, GO:0007565, GO:0007219, GO:0006897, GO:0001701, negative regulation of sprouting angiogenesis, membrane organization, embryonic organ development, negative regulation of epidermal growth factor receptor signaling pathway, female pregnancy, Notch signaling pathway, endocytosis, in utero embryonic development, 1103 1053 1317 554 899 692 710 737 637 ENSG00000063322 chr19 39391303 39400637 + MED29 protein_coding MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]. 55588 GO:0016592, GO:0016592, GO:0005654, mediator complex, mediator complex, nucleoplasm, GO:0008134, GO:0005515, GO:0003712, transcription factor binding, protein binding, transcription coregulator activity, GO:0006357, regulation of transcription by RNA polymerase II, 796 842 934 499 903 862 572 596 649 ENSG00000063438 chr5 304176 438291 + AHRR protein_coding 10 14 13 22 23 8 25 9 12 ENSG00000063515 chr22 19148576 19150283 - GSC2 protein_coding Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]. 2928 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0009653, GO:0006357, GO:0006357, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 1 0 0 0 0 ENSG00000063587 chrX 153334147 153360110 + ZNF275 protein_coding This gene encodes a zinc finger protein that appears to be conserved in eutheria. Its function has not yet been established. [provided by RefSeq, Jul 2010]. 10838 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 20 34 86 78 31 87 60 28 66 ENSG00000063601 chrX 150692971 150765103 + MTMR1 protein_coding This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 8776 GO:0016020, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005737, membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, cytoplasm, GO:0052629, GO:0052629, GO:0042803, GO:0004725, GO:0004438, GO:0004438, GO:0004438, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, protein homodimerization activity, protein tyrosine phosphatase activity, phosphatidylinositol-3-phosphatase activity, phosphatidylinositol-3-phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:0060304, GO:0046856, GO:0046856, GO:0035335, GO:0006661, regulation of phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, peptidyl-tyrosine dephosphorylation, phosphatidylinositol biosynthetic process, 427 311 476 468 379 532 476 345 432 ENSG00000063660 chr2 240435671 240468078 + GPC1 protein_coding Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]. 2817 GO:0070062, GO:0062023, GO:0046658, GO:0045202, GO:0045121, GO:0045121, GO:0043202, GO:0031226, GO:0031012, GO:0009986, GO:0005886, GO:0005886, GO:0005829, GO:0005796, GO:0005768, GO:0005654, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, anchored component of plasma membrane, synapse, membrane raft, membrane raft, lysosomal lumen, intrinsic component of plasma membrane, extracellular matrix, cell surface, plasma membrane, plasma membrane, cytosol, Golgi lumen, endosome, nucleoplasm, extracellular space, extracellular region, extracellular region, GO:0043236, GO:0017134, GO:0017134, GO:0005507, laminin binding, fibroblast growth factor binding, fibroblast growth factor binding, copper ion binding, GO:2001016, GO:1905475, GO:0050900, GO:0040037, GO:0040037, GO:0032288, GO:0030200, GO:0016477, GO:0014037, GO:0007411, GO:0006027, GO:0006024, GO:0001523, positive regulation of skeletal muscle cell differentiation, regulation of protein localization to membrane, leukocyte migration, negative regulation of fibroblast growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, myelin assembly, heparan sulfate proteoglycan catabolic process, cell migration, Schwann cell differentiation, axon guidance, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, retinoid metabolic process, 1 1 0 2 1 3 7 0 3 ENSG00000063761 chr14 77800083 77935012 + ADCK1 protein_coding 57143 GO:0032592, GO:0005743, GO:0005576, integral component of mitochondrial membrane, mitochondrial inner membrane, extracellular region, GO:0005524, GO:0004674, ATP binding, protein serine/threonine kinase activity, GO:1903852, GO:0055088, GO:0010637, GO:0007005, GO:0006468, positive regulation of cristae formation, lipid homeostasis, negative regulation of mitochondrial fusion, mitochondrion organization, protein phosphorylation, 3 3 12 20 10 16 3 7 2 ENSG00000063854 chr16 1795620 1827194 - HAGH protein_coding The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. 3029 GO:0005829, GO:0005759, cytosol, mitochondrial matrix, GO:0046872, GO:0005515, GO:0004416, metal ion binding, protein binding, hydroxyacylglutathione hydrolase activity, GO:0019243, GO:0006750, GO:0006090, methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione, glutathione biosynthetic process, pyruvate metabolic process, 133 140 156 162 201 167 125 157 152 ENSG00000063978 chr4 2462220 2625320 + RNF4 protein_coding The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. A pseudogene of this gene is found on chromosome 1.[provided by RefSeq, Jul 2010]. 6047 GO:1990752, GO:0016605, GO:0016605, GO:0016604, GO:0005737, GO:0005654, GO:0005654, GO:0005634, microtubule end, PML body, PML body, nuclear body, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0032184, GO:0031491, GO:0030374, GO:0008270, GO:0008134, GO:0005515, GO:0004842, GO:0003677, identical protein binding, SUMO polymer binding, nucleosome binding, nuclear receptor coactivator activity, zinc ion binding, transcription factor binding, protein binding, ubiquitin-protein transferase activity, DNA binding, GO:0090234, GO:0090169, GO:0085020, GO:0070979, GO:0070936, GO:0070534, GO:0051865, GO:0046685, GO:0045944, GO:0045944, GO:0045893, GO:0043161, regulation of kinetochore assembly, regulation of spindle assembly, protein K6-linked ubiquitination, protein K11-linked ubiquitination, protein K48-linked ubiquitination, protein K63-linked ubiquitination, protein autoubiquitination, response to arsenic-containing substance, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, proteasome-mediated ubiquitin-dependent protein catabolic process, 591 593 715 471 509 611 445 425 460 ENSG00000064012 chr2 201233443 201287711 + CASP8 protein_coding This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]. 841 GO:0097342, GO:0045121, GO:0044297, GO:0043005, GO:0032991, GO:0031265, GO:0031264, GO:0005856, GO:0005829, GO:0005829, GO:0005741, GO:0005739, GO:0005737, GO:0005654, ripoptosome, membrane raft, cell body, neuron projection, protein-containing complex, CD95 death-inducing signaling complex, death-inducing signaling complex, cytoskeleton, cytosol, cytosol, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleoplasm, GO:0097200, GO:0097199, GO:0097199, GO:0097153, GO:0097153, GO:0097153, GO:0097110, GO:0044877, GO:0042802, GO:0035877, GO:0035877, GO:0031625, GO:0008234, GO:0008233, GO:0008233, GO:0005515, GO:0005164, GO:0005123, GO:0004197, GO:0004197, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, cysteine-type endopeptidase activity involved in apoptotic process, cysteine-type endopeptidase activity involved in apoptotic process, scaffold protein binding, protein-containing complex binding, identical protein binding, death effector domain binding, death effector domain binding, ubiquitin protein ligase binding, cysteine-type peptidase activity, peptidase activity, peptidase activity, protein binding, tumor necrosis factor receptor binding, death receptor binding, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:1902042, GO:1902041, GO:1901216, GO:1900740, GO:0097296, GO:0097264, GO:0097202, GO:0097194, GO:0097194, GO:0097194, GO:0097191, GO:0097190, GO:0097190, GO:0071550, GO:0071407, GO:0071260, GO:0070423, GO:0070269, GO:0060715, GO:0060546, GO:0060546, GO:0060544, GO:0051603, GO:0046677, GO:0045862, GO:0045651, GO:0045471, GO:0043124, GO:0043123, GO:0043123, GO:0043065, GO:0042113, GO:0042110, GO:0039650, GO:0036462, GO:0035666, GO:0034612, GO:0034138, GO:0032731, GO:0032496, GO:0032355, GO:0032025, GO:0030225, GO:0030225, GO:0030101, GO:0010803, GO:0009409, GO:0008625, GO:0007507, GO:0007166, GO:0006919, GO:0006919, GO:0006915, GO:0006915, GO:0006915, GO:0006508, GO:0001525, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of neuron death, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, self proteolysis, activation of cysteine-type endopeptidase activity, execution phase of apoptosis, execution phase of apoptosis, execution phase of apoptosis, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, apoptotic signaling pathway, death-inducing signaling complex assembly, cellular response to organic cyclic compound, cellular response to mechanical stimulus, nucleotide-binding oligomerization domain containing signaling pathway, pyroptosis, syncytiotrophoblast cell differentiation involved in labyrinthine layer development, negative regulation of necroptotic process, negative regulation of necroptotic process, regulation of necroptotic process, proteolysis involved in cellular protein catabolic process, response to antibiotic, positive regulation of proteolysis, positive regulation of macrophage differentiation, response to ethanol, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, B cell activation, T cell activation, suppression by virus of host cysteine-type endopeptidase activity involved in apoptotic process, TRAIL-activated apoptotic signaling pathway, TRIF-dependent toll-like receptor signaling pathway, response to tumor necrosis factor, toll-like receptor 3 signaling pathway, positive regulation of interleukin-1 beta production, response to lipopolysaccharide, response to estradiol, response to cobalt ion, macrophage differentiation, macrophage differentiation, natural killer cell activation, regulation of tumor necrosis factor-mediated signaling pathway, response to cold, extrinsic apoptotic signaling pathway via death domain receptors, heart development, cell surface receptor signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, apoptotic process, apoptotic process, proteolysis, angiogenesis, 3977 3146 7471 3128 4181 7501 3172 3345 5959 ENSG00000064042 chr4 41359607 41700044 + LIMCH1 protein_coding 22998 GO:0016460, GO:0016460, GO:0005737, GO:0001725, GO:0001725, myosin II complex, myosin II complex, cytoplasm, stress fiber, stress fiber, GO:0046872, GO:0032034, GO:0032034, GO:0032034, GO:0005515, GO:0003779, metal ion binding, myosin II head/neck binding, myosin II head/neck binding, myosin II head/neck binding, protein binding, actin binding, GO:0060327, GO:0051893, GO:0051893, GO:0051496, GO:0051496, GO:0031032, GO:0030336, GO:0001934, cytoplasmic actin-based contraction involved in cell motility, regulation of focal adhesion assembly, regulation of focal adhesion assembly, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, actomyosin structure organization, negative regulation of cell migration, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000064102 chr12 26905181 26938326 - INTS13 protein_coding 55726 GO:0043231, GO:0032039, GO:0016604, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, integrator complex, nuclear body, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0090435, GO:0080154, GO:0051642, GO:0051642, GO:0051301, GO:0042795, GO:0030317, GO:0007346, GO:0007346, GO:0007052, protein localization to nuclear envelope, regulation of fertilization, centrosome localization, centrosome localization, cell division, snRNA transcription by RNA polymerase II, flagellated sperm motility, regulation of mitotic cell cycle, regulation of mitotic cell cycle, mitotic spindle organization, 29 25 40 35 46 72 47 27 34 ENSG00000064115 chr12 26973195 27014434 - TM7SF3 protein_coding 51768 GO:0070062, GO:0016021, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, GO:0003674, molecular_function, GO:0043069, GO:0034620, GO:0032024, negative regulation of programmed cell death, cellular response to unfolded protein, positive regulation of insulin secretion, 78 87 88 81 108 109 88 92 88 ENSG00000064195 chr17 49990005 49995224 - DLX3 protein_coding Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]. 1747 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071895, GO:0042475, GO:0030855, GO:0030154, GO:0009790, GO:0006357, GO:0001890, GO:0001568, odontoblast differentiation, odontogenesis of dentin-containing tooth, epithelial cell differentiation, cell differentiation, embryo development, regulation of transcription by RNA polymerase II, placenta development, blood vessel development, 0 0 0 0 0 0 0 0 0 ENSG00000064199 chr11 124673798 124697518 + SPA17 protein_coding This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009]. 53340 GO:0097228, GO:0097228, GO:0035686, GO:0035686, GO:0031514, GO:0009897, GO:0005929, GO:0005737, GO:0005737, GO:0005576, sperm principal piece, sperm principal piece, sperm fibrous sheath, sperm fibrous sheath, motile cilium, external side of plasma membrane, cilium, cytoplasm, cytoplasm, extracellular region, GO:0005516, GO:0005515, calmodulin binding, protein binding, GO:0007339, GO:0007338, GO:0007283, GO:0003351, binding of sperm to zona pellucida, single fertilization, spermatogenesis, epithelial cilium movement involved in extracellular fluid movement, 3 0 2 0 0 5 3 2 1 ENSG00000064201 chr11 2301997 2318200 + TSPAN32 protein_coding This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 10077 GO:0070442, GO:0009986, GO:0005887, integrin alphaIIb-beta3 complex, cell surface, integral component of plasma membrane, GO:0003674, molecular_function, GO:0072659, GO:0070527, GO:0051604, GO:0050688, GO:0042832, GO:0030886, GO:0008285, GO:0007267, GO:0007229, GO:0007010, protein localization to plasma membrane, platelet aggregation, protein maturation, regulation of defense response to virus, defense response to protozoan, negative regulation of myeloid dendritic cell activation, negative regulation of cell population proliferation, cell-cell signaling, integrin-mediated signaling pathway, cytoskeleton organization, 124 249 257 174 189 192 158 134 165 ENSG00000064205 chr20 44714844 44728509 + WISP2 protein_coding This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]. 8839 GO:0031012, GO:0005634, GO:0005615, extracellular matrix, nucleus, extracellular space, GO:0008201, GO:0005520, GO:0005515, GO:0005178, heparin binding, insulin-like growth factor binding, protein binding, integrin binding, GO:0060548, GO:0007267, GO:0007165, GO:0007155, negative regulation of cell death, cell-cell signaling, signal transduction, cell adhesion, 0 0 0 1 0 0 0 0 0 ENSG00000064218 chr9 976964 991731 + DMRT3 protein_coding 58524 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0046661, GO:0042487, GO:0021521, GO:0019226, GO:0007628, GO:0007548, GO:0007548, GO:0006357, male sex differentiation, regulation of odontogenesis of dentin-containing tooth, ventral spinal cord interneuron specification, transmission of nerve impulse, adult walking behavior, sex differentiation, sex differentiation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000064225 chr3 98732236 98821201 + ST3GAL6 protein_coding The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]. 10402 GO:0070062, GO:0016021, GO:0000139, extracellular exosome, integral component of membrane, Golgi membrane, GO:0052798, GO:0052798, GO:0008373, beta-galactoside alpha-2,3-sialyltransferase activity, beta-galactoside alpha-2,3-sialyltransferase activity, sialyltransferase activity, GO:0097503, GO:0071354, GO:0018146, GO:0009311, GO:0006664, GO:0006486, GO:0006464, sialylation, cellular response to interleukin-6, keratan sulfate biosynthetic process, oligosaccharide metabolic process, glycolipid metabolic process, protein glycosylation, cellular protein modification process, 422 427 643 239 440 207 272 311 197 ENSG00000064270 chr16 84368527 84464187 + ATP2C2 protein_coding 9914 GO:0048471, GO:0031410, GO:0016021, GO:0009898, GO:0005886, GO:0005783, GO:0000139, GO:0000139, perinuclear region of cytoplasm, cytoplasmic vesicle, integral component of membrane, cytoplasmic side of plasma membrane, plasma membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0046872, GO:0016887, GO:0015410, GO:0008553, GO:0005524, GO:0005515, GO:0005388, metal ion binding, ATPase activity, manganese transmembrane transporter activity, phosphorylative mechanism, proton-exporting ATPase activity, phosphorylative mechanism, ATP binding, protein binding, calcium transmembrane transporter activity, phosphorylative mechanism, GO:1902600, GO:0090280, GO:0072659, GO:0071421, GO:0070588, GO:0061180, GO:0034220, GO:0006874, GO:0006828, proton transmembrane transport, positive regulation of calcium ion import, protein localization to plasma membrane, manganese ion transmembrane transport, calcium ion transmembrane transport, mammary gland epithelium development, ion transmembrane transport, cellular calcium ion homeostasis, manganese ion transport, 32 4 36 40 17 35 44 5 28 ENSG00000064300 chr17 49495293 49515017 + NGFR protein_coding Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008]. 4804 GO:0043204, GO:0043197, GO:0030426, GO:0016021, GO:0009986, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005768, GO:0005654, GO:0005576, perikaryon, dendritic spine, growth cone, integral component of membrane, cell surface, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, endosome, nucleoplasm, extracellular region, GO:0048406, GO:0048406, GO:0043121, GO:0038023, GO:0031625, GO:0031267, GO:0015026, GO:0015026, GO:0005516, GO:0005515, GO:0005035, GO:0005035, GO:0004888, GO:0001540, nerve growth factor binding, nerve growth factor binding, neurotrophin binding, signaling receptor activity, ubiquitin protein ligase binding, small GTPase binding, coreceptor activity, coreceptor activity, calmodulin binding, protein binding, death receptor activity, death receptor activity, transmembrane signaling receptor activity, amyloid-beta binding, GO:1904646, GO:1903588, GO:1902895, GO:1900182, GO:0051402, GO:0050772, GO:0050771, GO:0048011, GO:0043281, GO:0043154, GO:0043066, GO:0043065, GO:0042593, GO:0032922, GO:0031293, GO:0007266, GO:0007266, GO:0006919, GO:0006919, GO:0006886, GO:0001678, cellular response to amyloid-beta, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of protein localization to nucleus, neuron apoptotic process, positive regulation of axonogenesis, negative regulation of axonogenesis, neurotrophin TRK receptor signaling pathway, regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, glucose homeostasis, circadian regulation of gene expression, membrane protein intracellular domain proteolysis, Rho protein signal transduction, Rho protein signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, intracellular protein transport, cellular glucose homeostasis, 1 1 7 2 2 0 0 0 0 ENSG00000064309 chr11 125955796 126063335 - CDON protein_coding This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]. 50937 GO:0062023, GO:0005887, GO:0005886, collagen-containing extracellular matrix, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, GO:2000179, GO:0060059, GO:0051149, GO:0051057, GO:0048643, GO:0045944, GO:0045666, GO:0045663, GO:0043410, GO:0043393, GO:0021987, GO:0014816, GO:0010172, GO:0009952, GO:0007520, GO:0007224, GO:0007155, GO:0002088, GO:0001708, positive regulation of neural precursor cell proliferation, embryonic retina morphogenesis in camera-type eye, positive regulation of muscle cell differentiation, positive regulation of small GTPase mediated signal transduction, positive regulation of skeletal muscle tissue development, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, positive regulation of myoblast differentiation, positive regulation of MAPK cascade, regulation of protein binding, cerebral cortex development, skeletal muscle satellite cell differentiation, embryonic body morphogenesis, anterior/posterior pattern specification, myoblast fusion, smoothened signaling pathway, cell adhesion, lens development in camera-type eye, cell fate specification, 0 0 2 11 1 0 10 1 0 ENSG00000064313 chr8 119730775 119832863 - TAF2 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]. 6873 GO:0033276, GO:0005669, GO:0005669, GO:0005654, transcription factor TFTC complex, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, GO:0016251, GO:0016251, GO:0005515, GO:0003682, GO:0000976, GO:0000976, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, chromatin binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901796, GO:0014070, GO:0006367, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0000086, regulation of signal transduction by p53 class mediator, response to organic cyclic compound, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, 302 278 411 261 308 253 270 174 241 ENSG00000064393 chr7 139561570 139777778 - HIPK2 protein_coding This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 28996 GO:0090575, GO:0016605, GO:0016605, GO:0016604, GO:0016604, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, RNA polymerase II transcription regulator complex, PML body, PML body, nuclear body, nuclear body, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0046790, GO:0046332, GO:0046332, GO:0005524, GO:0005515, GO:0004713, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0003714, GO:0003714, GO:0003713, GO:0003713, GO:0001102, GO:0001102, protein threonine kinase activity, protein serine kinase activity, virion binding, SMAD binding, SMAD binding, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, RNA polymerase II activating transcription factor binding, RNA polymerase II activating transcription factor binding, GO:2000059, GO:1901796, GO:0097193, GO:0071456, GO:0061072, GO:0060395, GO:0060235, GO:0060059, GO:0051726, GO:0051091, GO:0050882, GO:0048596, GO:0046330, GO:0045944, GO:0045944, GO:0045893, GO:0045766, GO:0043524, GO:0043388, GO:0042771, GO:0042771, GO:0032092, GO:0030578, GO:0030514, GO:0030511, GO:0030218, GO:0030182, GO:0019048, GO:0018108, GO:0018107, GO:0018107, GO:0018105, GO:0018105, GO:0010842, GO:0009952, GO:0008284, GO:0007628, GO:0007224, GO:0007179, GO:0006978, GO:0006468, GO:0001654, GO:0000122, negative regulation of ubiquitin-dependent protein catabolic process, regulation of signal transduction by p53 class mediator, intrinsic apoptotic signaling pathway, cellular response to hypoxia, iris morphogenesis, SMAD protein signal transduction, lens induction in camera-type eye, embryonic retina morphogenesis in camera-type eye, regulation of cell cycle, positive regulation of DNA-binding transcription factor activity, voluntary musculoskeletal movement, embryonic camera-type eye morphogenesis, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of angiogenesis, negative regulation of neuron apoptotic process, positive regulation of DNA binding, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of protein binding, PML body organization, negative regulation of BMP signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, erythrocyte differentiation, neuron differentiation, modulation by virus of host process, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, retina layer formation, anterior/posterior pattern specification, positive regulation of cell population proliferation, adult walking behavior, smoothened signaling pathway, transforming growth factor beta receptor signaling pathway, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, protein phosphorylation, eye development, negative regulation of transcription by RNA polymerase II, 447 451 453 359 372 396 422 328 304 ENSG00000064419 chr7 128954180 129055173 - TNPO3 protein_coding The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Several protein-coding and non-coding transcript variants have been found for this gene. [provided by RefSeq, Apr 2020]. 23534 GO:0043231, GO:0005737, GO:0005642, GO:0005635, intracellular membrane-bounded organelle, cytoplasm, annulate lamellae, nuclear envelope, GO:0061608, GO:0042802, GO:0031267, GO:0005515, nuclear import signal receptor activity, identical protein binding, small GTPase binding, protein binding, GO:0006606, GO:0006606, protein import into nucleus, protein import into nucleus, 556 599 629 416 555 450 470 439 407 ENSG00000064489 chr19 19145567 19192158 - BORCS8-MEF2B protein_coding 0 0 1 0 0 0 1 4 3 ENSG00000064490 chr19 19192229 19201869 + RFXANK protein_coding Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]. 8625 GO:0090575, GO:0045171, GO:0005829, GO:0005654, GO:0005634, RNA polymerase II transcription regulator complex, intercellular bridge, cytosol, nucleoplasm, nucleus, GO:0001228, GO:0000977, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0010468, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of gene expression, regulation of transcription by RNA polymerase II, 231 218 244 162 185 147 197 188 223 ENSG00000064545 chr19 19119169 19138513 - TMEM161A protein_coding 54929 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:1902230, GO:0045739, GO:0034644, GO:0034599, GO:0032526, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of DNA repair, cellular response to UV, cellular response to oxidative stress, response to retinoic acid, 3 8 14 13 10 26 15 9 23 ENSG00000064547 chr19 19623668 19628930 - LPAR2 protein_coding This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]. 9170 GO:0030139, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005737, endocytic vesicle, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0070915, GO:0008289, GO:0005515, GO:0004930, lysophosphatidic acid receptor activity, lipid binding, protein binding, G protein-coupled receptor activity, GO:0019222, GO:0007204, GO:0007202, GO:0007189, GO:0007186, regulation of metabolic process, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 3667 3159 3007 4164 4273 3717 4130 2994 3162 ENSG00000064601 chr20 45890144 45898820 + CTSA protein_coding This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]. 5476 GO:0098575, GO:0070062, GO:0043231, GO:0043202, GO:0035578, GO:0016020, GO:0005783, GO:0005764, GO:0005576, lumenal side of lysosomal membrane, extracellular exosome, intracellular membrane-bounded organelle, lysosomal lumen, azurophil granule lumen, membrane, endoplasmic reticulum, lysosome, extracellular region, GO:0008047, GO:0004185, GO:0004185, GO:0004180, enzyme activator activity, serine-type carboxypeptidase activity, serine-type carboxypeptidase activity, carboxypeptidase activity, GO:1904715, GO:1904714, GO:0043312, GO:0043085, GO:0031647, GO:0006886, GO:0006687, GO:0006508, negative regulation of chaperone-mediated autophagy, regulation of chaperone-mediated autophagy, neutrophil degranulation, positive regulation of catalytic activity, regulation of protein stability, intracellular protein transport, glycosphingolipid metabolic process, proteolysis, 664 873 1086 1238 1528 1244 1228 998 844 ENSG00000064607 chr19 18990888 19034023 - SUGP2 protein_coding This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. 10147 GO:0016604, GO:0005654, nuclear body, nucleoplasm, GO:0003723, RNA binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 353 408 519 557 473 629 508 415 480 ENSG00000064651 chr5 128083766 128189688 + SLC12A2 protein_coding The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 6558 GO:1903561, GO:0089717, GO:0071944, GO:0071944, GO:0070062, GO:0044298, GO:0044297, GO:0043025, GO:0043025, GO:0043005, GO:0042995, GO:0031253, GO:0030659, GO:0016328, GO:0016324, GO:0016324, GO:0016020, GO:0009925, GO:0005887, GO:0005886, GO:0005886, GO:0005829, extracellular vesicle, spanning component of membrane, cell periphery, cell periphery, extracellular exosome, cell body membrane, cell body, neuronal cell body, neuronal cell body, neuron projection, cell projection, cell projection membrane, cytoplasmic vesicle membrane, lateral plasma membrane, apical plasma membrane, apical plasma membrane, membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0051879, GO:0051087, GO:0046873, GO:0019901, GO:0015379, GO:0015377, GO:0015079, GO:0008519, GO:0008519, GO:0008511, GO:0005515, Hsp90 protein binding, chaperone binding, metal ion transmembrane transporter activity, protein kinase binding, potassium:chloride symporter activity, cation:chloride symporter activity, potassium ion transmembrane transporter activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, sodium:potassium:chloride symporter activity, protein binding, GO:1990869, GO:1990573, GO:1990573, GO:1904464, GO:1904450, GO:1902476, GO:1902476, GO:1902476, GO:0150104, GO:0150003, GO:0098719, GO:0098659, GO:0098658, GO:0072488, GO:0070634, GO:0061044, GO:0055078, GO:0055075, GO:0055064, GO:0045795, GO:0035865, GO:0035725, GO:0035633, GO:0035633, GO:0030644, GO:0030644, GO:0030321, GO:0030007, GO:0015696, GO:0015696, GO:0010818, GO:0007568, GO:0007214, GO:0006972, GO:0006884, GO:0006884, GO:0006884, GO:0006883, GO:0006811, cellular response to chemokine, potassium ion import across plasma membrane, potassium ion import across plasma membrane, regulation of matrix metallopeptidase secretion, positive regulation of aspartate secretion, chloride transmembrane transport, chloride transmembrane transport, chloride transmembrane transport, transport across blood-brain barrier, regulation of spontaneous synaptic transmission, sodium ion import across plasma membrane, inorganic cation import across plasma membrane, inorganic anion import across plasma membrane, ammonium transmembrane transport, transepithelial ammonium transport, negative regulation of vascular wound healing, sodium ion homeostasis, potassium ion homeostasis, chloride ion homeostasis, positive regulation of cell volume, cellular response to potassium ion, sodium ion transmembrane transport, maintenance of blood-brain barrier, maintenance of blood-brain barrier, cellular chloride ion homeostasis, cellular chloride ion homeostasis, transepithelial chloride transport, cellular potassium ion homeostasis, ammonium transport, ammonium transport, T cell chemotaxis, aging, gamma-aminobutyric acid signaling pathway, hyperosmotic response, cell volume homeostasis, cell volume homeostasis, cell volume homeostasis, cellular sodium ion homeostasis, ion transport, 32 32 56 48 32 49 40 24 47 ENSG00000064652 chr5 122843439 123029354 + SNX24 protein_coding 28966 GO:0030659, cytoplasmic vesicle membrane, GO:1901981, GO:0070273, GO:0032266, GO:0010314, GO:0005515, phosphatidylinositol phosphate binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, protein binding, GO:0015031, protein transport, 3 3 8 10 4 10 10 3 5 ENSG00000064655 chr20 46894624 47188844 + EYA2 protein_coding This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]. 2139 GO:0005829, GO:0005739, GO:0005654, GO:0005634, cytosol, mitochondrion, nucleoplasm, nucleus, GO:0008134, GO:0005515, GO:0004725, GO:0004725, GO:0000287, transcription factor binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, magnesium ion binding, GO:2001240, GO:0097345, GO:0097192, GO:0048856, GO:0045739, GO:0035335, GO:0030154, GO:0016576, GO:0016576, GO:0014706, GO:0007501, GO:0006281, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, mitochondrial outer membrane permeabilization, extrinsic apoptotic signaling pathway in absence of ligand, anatomical structure development, positive regulation of DNA repair, peptidyl-tyrosine dephosphorylation, cell differentiation, histone dephosphorylation, histone dephosphorylation, striated muscle tissue development, mesodermal cell fate specification, DNA repair, 0 0 0 0 0 0 0 0 0 ENSG00000064666 chr19 1026581 1039068 + CNN2 protein_coding The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]. 1265 GO:1904724, GO:0035580, GO:0016020, GO:0005925, GO:0005911, GO:0005856, GO:0005576, GO:0001725, tertiary granule lumen, specific granule lumen, membrane, focal adhesion, cell-cell junction, cytoskeleton, extracellular region, stress fiber, GO:0045296, GO:0005516, GO:0003779, cadherin binding, calmodulin binding, actin binding, GO:0071260, GO:0043312, GO:0035722, GO:0032970, GO:0031032, GO:0007010, cellular response to mechanical stimulus, neutrophil degranulation, interleukin-12-mediated signaling pathway, regulation of actin filament-based process, actomyosin structure organization, cytoskeleton organization, 8144 8256 10619 3004 5836 4660 3973 5225 4563 ENSG00000064687 chr19 1040101 1065572 + ABCA7 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]. 10347 GO:0097386, GO:0043231, GO:0032587, GO:0031901, GO:0030054, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0001891, GO:0000139, glial cell projection, intracellular membrane-bounded organelle, ruffle membrane, early endosome membrane, cell junction, integral component of membrane, cell surface, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, phagocytic cup, Golgi membrane, GO:0140328, GO:0090556, GO:0090556, GO:0090554, GO:0090554, GO:0042626, GO:0034188, GO:0034188, GO:0016887, GO:0005548, GO:0005524, GO:0005319, floppase activity, phosphatidylserine floppase activity, phosphatidylserine floppase activity, phosphatidylcholine floppase activity, phosphatidylcholine floppase activity, ATPase-coupled transmembrane transporter activity, apolipoprotein A-I receptor activity, apolipoprotein A-I receptor activity, ATPase activity, phospholipid transporter activity, ATP binding, lipid transporter activity, GO:2000010, GO:1903898, GO:1902995, GO:1902991, GO:1902430, GO:1901076, GO:1900223, GO:0150094, GO:0070374, GO:0055085, GO:0050766, GO:0045806, GO:0045332, GO:0044857, GO:0043409, GO:0042985, GO:0038027, GO:0034504, GO:0034380, GO:0034205, GO:0033700, GO:0033700, GO:0033700, GO:0033344, GO:0033344, GO:0019216, GO:0018149, GO:0010875, GO:0008542, GO:0007613, GO:0006909, GO:0006869, positive regulation of protein localization to cell surface, negative regulation of PERK-mediated unfolded protein response, positive regulation of phospholipid efflux, regulation of amyloid precursor protein catabolic process, negative regulation of amyloid-beta formation, positive regulation of engulfment of apoptotic cell, positive regulation of amyloid-beta clearance, amyloid-beta clearance by cellular catabolic process, positive regulation of ERK1 and ERK2 cascade, transmembrane transport, positive regulation of phagocytosis, negative regulation of endocytosis, phospholipid translocation, plasma membrane raft organization, negative regulation of MAPK cascade, negative regulation of amyloid precursor protein biosynthetic process, apolipoprotein A-I-mediated signaling pathway, protein localization to nucleus, high-density lipoprotein particle assembly, amyloid-beta formation, phospholipid efflux, phospholipid efflux, phospholipid efflux, cholesterol efflux, cholesterol efflux, regulation of lipid metabolic process, peptide cross-linking, positive regulation of cholesterol efflux, visual learning, memory, phagocytosis, lipid transport, 3455 3906 4671 3358 4664 4634 3931 3612 4078 ENSG00000064692 chr5 122311354 122464219 + SNCAIP protein_coding This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 9627 GO:0043025, GO:0042734, GO:0036464, GO:0008021, GO:0005829, GO:0005737, GO:0005654, neuronal cell body, presynaptic membrane, cytoplasmic ribonucleoprotein granule, synaptic vesicle, cytosol, cytoplasm, nucleoplasm, GO:0042802, GO:0031625, GO:0005515, identical protein binding, ubiquitin protein ligase binding, protein binding, GO:0090083, GO:0046928, GO:0044267, GO:0042417, GO:0008219, regulation of inclusion body assembly, regulation of neurotransmitter secretion, cellular protein metabolic process, dopamine metabolic process, cell death, 0 0 0 0 0 0 0 0 0 ENSG00000064703 chr1 111755245 111768016 + DDX20 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]. 11218 GO:0097504, GO:0090571, GO:0034719, GO:0032797, GO:0032797, GO:0016020, GO:0005856, GO:0005829, GO:0005829, GO:0005654, GO:0005634, Gemini of coiled bodies, RNA polymerase II transcription repressor complex, SMN-Sm protein complex, SMN complex, SMN complex, membrane, cytoskeleton, cytosol, cytosol, nucleoplasm, nucleus, GO:0070491, GO:0042826, GO:0030674, GO:0019904, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003677, repressing transcription factor binding, histone deacetylase binding, protein-macromolecule adaptor activity, protein domain specific binding, ATP binding, protein binding, RNA helicase activity, RNA binding, DNA binding, GO:0051170, GO:0050810, GO:0048477, GO:0043065, GO:0043065, GO:0008285, GO:0006396, GO:0000387, GO:0000387, GO:0000387, GO:0000244, GO:0000122, import into nucleus, regulation of steroid biosynthetic process, oogenesis, positive regulation of apoptotic process, positive regulation of apoptotic process, negative regulation of cell population proliferation, RNA processing, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal tri-snRNP complex assembly, negative regulation of transcription by RNA polymerase II, 114 111 157 55 53 82 60 54 57 ENSG00000064726 chr15 83016422 83067354 - BTBD1 protein_coding The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 53339 GO:0032991, GO:0005829, GO:0005829, GO:0000932, GO:0000932, protein-containing complex, cytosol, cytosol, P-body, P-body, GO:0097602, GO:0042802, GO:0005515, cullin family protein binding, identical protein binding, protein binding, GO:0043687, GO:0043393, GO:0022008, GO:0016567, GO:0007517, post-translational protein modification, regulation of protein binding, neurogenesis, protein ubiquitination, muscle organ development, 242 174 255 166 204 237 188 153 177 ENSG00000064763 chr12 29149103 29340980 + FAR2 protein_coding This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]. 55711 GO:0043231, GO:0005782, GO:0005779, GO:0005777, GO:0005777, intracellular membrane-bounded organelle, peroxisomal matrix, integral component of peroxisomal membrane, peroxisome, peroxisome, GO:0102965, GO:0080019, GO:0080019, GO:0016491, alcohol-forming fatty acyl-CoA reductase activity, fatty-acyl-CoA reductase (alcohol-forming) activity, fatty-acyl-CoA reductase (alcohol-forming) activity, oxidoreductase activity, GO:0055114, GO:0035336, GO:0035336, GO:0010025, GO:0006629, oxidation-reduction process, long-chain fatty-acyl-CoA metabolic process, long-chain fatty-acyl-CoA metabolic process, wax biosynthetic process, lipid metabolic process, 860 755 710 367 643 413 491 532 388 ENSG00000064787 chr20 53936777 54070594 - BCAS1 protein_coding This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Apr 2016]. 8537 GO:0070062, GO:0014069, GO:0005737, extracellular exosome, postsynaptic density, cytoplasm, GO:0042552, GO:0042552, myelination, myelination, 22 11 52 17 17 36 23 15 34 ENSG00000064835 chr3 87259404 87276587 - POU1F1 protein_coding This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5449 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003682, GO:0001102, GO:0001085, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060133, GO:0045944, GO:0043567, GO:0040018, GO:0032962, GO:0030183, GO:0008340, GO:0008285, GO:0008284, GO:0006357, GO:0006355, GO:0001708, GO:0000122, somatotropin secreting cell development, positive regulation of transcription by RNA polymerase II, regulation of insulin-like growth factor receptor signaling pathway, positive regulation of multicellular organism growth, positive regulation of inositol trisphosphate biosynthetic process, B cell differentiation, determination of adult lifespan, negative regulation of cell population proliferation, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, cell fate specification, negative regulation of transcription by RNA polymerase II, 1 1 3 72 38 83 23 24 33 ENSG00000064886 chr1 111200771 111243440 + CHI3L2 protein_coding The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 1117 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0030246, GO:0008061, GO:0008061, GO:0004568, GO:0004568, carbohydrate binding, chitin binding, chitin binding, chitinase activity, chitinase activity, GO:0006032, GO:0005975, chitin catabolic process, carbohydrate metabolic process, 15 6 18 96 116 101 77 139 70 ENSG00000064932 chr19 1107636 1174283 - SBNO2 protein_coding 22904 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0042393, GO:0031490, histone binding, chromatin DNA binding, GO:1990830, GO:0072675, GO:0071354, GO:0071354, GO:0071348, GO:0071222, GO:0061430, GO:0050727, GO:0050727, GO:0045944, GO:0045892, GO:0045892, GO:0030316, GO:0030282, GO:0006355, GO:0002281, GO:0002281, cellular response to leukemia inhibitory factor, osteoclast fusion, cellular response to interleukin-6, cellular response to interleukin-6, cellular response to interleukin-11, cellular response to lipopolysaccharide, bone trabecula morphogenesis, regulation of inflammatory response, regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, osteoclast differentiation, bone mineralization, regulation of transcription, DNA-templated, macrophage activation involved in immune response, macrophage activation involved in immune response, 1421 1066 2636 470 195 2032 491 468 1187 ENSG00000064933 chr2 189784085 189877629 + PMS1 protein_coding This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]. 5378 GO:0032300, GO:0005634, mismatch repair complex, nucleus, GO:0030983, GO:0019899, GO:0016887, GO:0005524, GO:0005515, GO:0003677, mismatched DNA binding, enzyme binding, ATPase activity, ATP binding, protein binding, DNA binding, GO:0042493, GO:0006298, response to drug, mismatch repair, 35 23 52 127 36 91 81 36 51 ENSG00000064961 chr19 3572777 3579088 + HMG20B protein_coding 10362 GO:0016604, GO:0005694, GO:0005654, GO:0005654, GO:0005634, nuclear body, chromosome, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0010468, GO:0007596, GO:0007049, GO:0006325, regulation of gene expression, blood coagulation, cell cycle, chromatin organization, 364 458 517 305 371 355 308 342 367 ENSG00000064989 chr2 187343129 187448460 - CALCRL protein_coding 10203 GO:1990406, GO:1903143, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005783, GO:0005768, GO:0005764, GO:0005737, CGRP receptor complex, adrenomedullin receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, endosome, lysosome, cytoplasm, GO:1990409, GO:0008528, GO:0005515, GO:0004948, GO:0004930, GO:0001635, GO:0001635, GO:0001605, GO:0001605, adrenomedullin binding, G protein-coupled peptide receptor activity, protein binding, calcitonin receptor activity, G protein-coupled receptor activity, calcitonin gene-related peptide receptor activity, calcitonin gene-related peptide receptor activity, adrenomedullin receptor activity, adrenomedullin receptor activity, GO:1990410, GO:1990408, GO:0071329, GO:0050728, GO:0048661, GO:0045986, GO:0031623, GO:0015031, GO:0007507, GO:0007189, GO:0007189, GO:0007188, GO:0007187, GO:0007186, GO:0007166, GO:0006816, GO:0001525, GO:0001525, adrenomedullin receptor signaling pathway, calcitonin gene-related peptide receptor signaling pathway, cellular response to sucrose stimulus, negative regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, negative regulation of smooth muscle contraction, receptor internalization, protein transport, heart development, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, calcium ion transport, angiogenesis, angiogenesis, 1 0 8 4 2 7 1 4 2 ENSG00000064995 chr6 34877462 34888089 - TAF11 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]. 6882 GO:0005794, GO:0005669, GO:0005669, GO:0005654, GO:0005654, Golgi apparatus, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, GO:0047485, GO:0046982, GO:0046966, GO:0042809, GO:0017025, GO:0016251, GO:0008134, GO:0005515, GO:0003713, GO:0003713, GO:0003677, protein N-terminus binding, protein heterodimerization activity, thyroid hormone receptor binding, vitamin D receptor binding, TBP-class protein binding, RNA polymerase II general transcription initiation factor activity, transcription factor binding, protein binding, transcription coactivator activity, transcription coactivator activity, DNA binding, GO:1903508, GO:1901796, GO:0051123, GO:0043923, GO:0042795, GO:0006367, GO:0006367, GO:0006366, GO:0006366, positive regulation of nucleic acid-templated transcription, regulation of signal transduction by p53 class mediator, RNA polymerase II preinitiation complex assembly, positive regulation by host of viral transcription, snRNA transcription by RNA polymerase II, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, 232 215 280 259 200 240 264 205 220 ENSG00000064999 chr6 34889265 35091413 + ANKS1A protein_coding 23294 GO:0043005, GO:0005829, GO:0005829, GO:0005654, neuron projection, cytosol, cytosol, nucleoplasm, GO:0046875, GO:0005515, ephrin receptor binding, protein binding, GO:1901187, GO:0048013, GO:0048013, GO:0016322, GO:0006929, regulation of ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, neuron remodeling, substrate-dependent cell migration, 451 456 543 319 397 414 341 253 339 ENSG00000065000 chr19 2100988 2164468 - AP3D1 protein_coding The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]. 8943 GO:1904115, GO:0098978, GO:0098830, GO:0098794, GO:0043195, GO:0030123, GO:0016020, GO:0010008, GO:0010008, GO:0005794, GO:0005765, GO:0000139, axon cytoplasm, glutamatergic synapse, presynaptic endosome, postsynapse, terminal bouton, AP-3 adaptor complex, membrane, endosome membrane, endosome membrane, Golgi apparatus, lysosomal membrane, Golgi membrane, GO:0005515, protein binding, GO:0098943, GO:0072657, GO:0061088, GO:0051138, GO:0048499, GO:0048490, GO:0048490, GO:0048007, GO:0035646, GO:0032438, GO:0016182, GO:0008089, GO:0006896, GO:0006623, neurotransmitter receptor transport, postsynaptic endosome to lysosome, protein localization to membrane, regulation of sequestering of zinc ion, positive regulation of NK T cell differentiation, synaptic vesicle membrane organization, anterograde synaptic vesicle transport, anterograde synaptic vesicle transport, antigen processing and presentation, exogenous lipid antigen via MHC class Ib, endosome to melanosome transport, melanosome organization, synaptic vesicle budding from endosome, anterograde axonal transport, Golgi to vacuole transport, protein targeting to vacuole, 777 940 947 727 928 818 769 708 630 ENSG00000065029 chr6 35258909 35295985 + ZNF76 protein_coding 7629 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006359, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase III, regulation of transcription by RNA polymerase II, 229 229 289 163 152 157 163 96 160 ENSG00000065054 chr16 2025356 2039026 + SLC9A3R2 protein_coding This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 9351 GO:0070062, GO:0016324, GO:0012505, GO:0005925, GO:0005886, GO:0005634, extracellular exosome, apical plasma membrane, endomembrane system, focal adhesion, plasma membrane, nucleus, GO:0045296, GO:0043495, GO:0031800, GO:0031799, GO:0019902, GO:0008022, GO:0008013, GO:0005515, GO:0005102, GO:0005102, cadherin binding, protein-membrane adaptor activity, type 3 metabotropic glutamate receptor binding, type 2 metabotropic glutamate receptor binding, phosphatase binding, protein C-terminus binding, beta-catenin binding, protein binding, signaling receptor binding, signaling receptor binding, GO:0072659, GO:0065003, protein localization to plasma membrane, protein-containing complex assembly, 1 0 1 4 2 6 4 1 7 ENSG00000065057 chr16 2039815 2047866 - NTHL1 protein_coding The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]. 4913 GO:0005739, GO:0005654, GO:0005634, GO:0005634, GO:0000785, mitochondrion, nucleoplasm, nucleus, nucleus, chromatin, GO:0140078, GO:0051539, GO:0046872, GO:0019104, GO:0008534, GO:0005515, GO:0004519, GO:0003906, GO:0003906, GO:0003690, GO:0000703, GO:0000703, class I DNA-(apurinic or apyrimidinic site) endonuclease activity, 4 iron, 4 sulfur cluster binding, metal ion binding, DNA N-glycosylase activity, oxidized purine nucleobase lesion DNA N-glycosylase activity, protein binding, endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, double-stranded DNA binding, oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity, oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity, GO:0045008, GO:0006296, GO:0006296, GO:0006285, GO:0006285, depyrimidination, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 5'-to lesion, base-excision repair, AP site formation, base-excision repair, AP site formation, 1 4 4 5 8 5 7 4 22 ENSG00000065060 chr6 34792015 34883138 + UHRF1BP1 protein_coding 54887 GO:0042826, GO:0042826, GO:0042802, GO:0005515, histone deacetylase binding, histone deacetylase binding, identical protein binding, protein binding, 115 103 140 96 114 121 115 76 90 ENSG00000065135 chr1 109548611 109618321 + GNAI3 protein_coding Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]. 2773 GO:0070062, GO:0045121, GO:0042588, GO:0030496, GO:0016020, GO:0005886, GO:0005886, GO:0005834, GO:0005813, GO:0005789, GO:0005765, GO:0005737, GO:0000139, extracellular exosome, membrane raft, zymogen granule, midbody, membrane, plasma membrane, plasma membrane, heterotrimeric G-protein complex, centrosome, endoplasmic reticulum membrane, lysosomal membrane, cytoplasm, Golgi membrane, GO:0046872, GO:0032794, GO:0031821, GO:0031683, GO:0019904, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0001664, metal ion binding, GTPase activating protein binding, G protein-coupled serotonin receptor binding, G-protein beta/gamma-subunit complex binding, protein domain specific binding, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, G protein-coupled receptor binding, GO:2001234, GO:1904707, GO:0051301, GO:0046039, GO:0033864, GO:0032930, GO:0016239, GO:0007420, GO:0007212, GO:0007194, GO:0007193, GO:0007193, GO:0007188, GO:0007186, GO:0007049, GO:0006906, GO:0006457, negative regulation of apoptotic signaling pathway, positive regulation of vascular associated smooth muscle cell proliferation, cell division, GTP metabolic process, positive regulation of NAD(P)H oxidase activity, positive regulation of superoxide anion generation, positive regulation of macroautophagy, brain development, dopamine receptor signaling pathway, negative regulation of adenylate cyclase activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell cycle, vesicle fusion, protein folding, 6134 5145 6559 2736 3874 3301 2676 3138 2693 ENSG00000065150 chr13 97953658 98024297 + IPO5 protein_coding Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]. 3843 GO:0016020, GO:0005737, GO:0005737, GO:0005730, GO:0005643, GO:0005634, GO:0005634, membrane, cytoplasm, cytoplasm, nucleolus, nuclear pore, nucleus, nucleus, GO:0061608, GO:0061608, GO:0031267, GO:0008139, GO:0005515, GO:0005095, GO:0003723, nuclear import signal receptor activity, nuclear import signal receptor activity, small GTPase binding, nuclear localization sequence binding, protein binding, GTPase inhibitor activity, RNA binding, GO:0071230, GO:0045736, GO:0042307, GO:0034260, GO:0016032, GO:0006610, GO:0006607, GO:0006606, cellular response to amino acid stimulus, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of protein import into nucleus, negative regulation of GTPase activity, viral process, ribosomal protein import into nucleus, NLS-bearing protein import into nucleus, protein import into nucleus, 53 40 109 163 85 164 140 66 187 ENSG00000065154 chr10 124397303 124418976 - OAT protein_coding This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]. 4942 GO:0005759, GO:0005759, GO:0005739, GO:0005737, GO:0005654, mitochondrial matrix, mitochondrial matrix, mitochondrion, cytoplasm, nucleoplasm, GO:0050155, GO:0042802, GO:0042802, GO:0030170, GO:0005515, GO:0004587, ornithine(lysine) transaminase activity, identical protein binding, identical protein binding, pyridoxal phosphate binding, protein binding, ornithine-oxo-acid transaminase activity, GO:0055129, GO:0019544, GO:0010121, GO:0008652, GO:0007601, L-proline biosynthetic process, arginine catabolic process to glutamate, arginine catabolic process to proline via ornithine, cellular amino acid biosynthetic process, visual perception, 374 428 937 270 396 543 259 282 436 ENSG00000065183 chr1 117929720 117966542 + WDR3 protein_coding This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]. 10885 GO:0034388, GO:0032040, GO:0031965, GO:0005730, GO:0005654, GO:0005654, Pwp2p-containing subcomplex of 90S preribosome, small-subunit processome, nuclear membrane, nucleolus, nucleoplasm, nucleoplasm, GO:0030515, GO:0003723, snoRNA binding, RNA binding, GO:0030490, GO:0006364, maturation of SSU-rRNA, rRNA processing, 55 69 70 98 84 104 96 69 109 ENSG00000065243 chr1 88684222 88836255 + PKN2 protein_coding 5586 GO:0048471, GO:0045111, GO:0043296, GO:0032991, GO:0032154, GO:0030496, GO:0030027, GO:0016604, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, perinuclear region of cytoplasm, intermediate filament cytoskeleton, apical junction complex, protein-containing complex, cleavage furrow, midbody, lamellipodium, nuclear body, plasma membrane, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, GO:0070063, GO:0045296, GO:0042826, GO:0031267, GO:0016301, GO:0005524, GO:0005515, GO:0004698, GO:0004674, GO:0004674, GO:0004672, GO:0003723, RNA polymerase binding, cadherin binding, histone deacetylase binding, small GTPase binding, kinase activity, ATP binding, protein binding, calcium-dependent protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, RNA binding, GO:2000145, GO:0051301, GO:0045931, GO:0045070, GO:0043297, GO:0035556, GO:0032467, GO:0030030, GO:0018105, GO:0016032, GO:0010631, GO:0007165, GO:0007155, GO:0007049, GO:0006915, GO:0006468, regulation of cell motility, cell division, positive regulation of mitotic cell cycle, positive regulation of viral genome replication, apical junction assembly, intracellular signal transduction, positive regulation of cytokinesis, cell projection organization, peptidyl-serine phosphorylation, viral process, epithelial cell migration, signal transduction, cell adhesion, cell cycle, apoptotic process, protein phosphorylation, 4667 5137 4897 3258 5706 4486 3849 3904 3809 ENSG00000065268 chr19 984271 998438 + WDR18 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]. 57418 GO:0097344, GO:0005737, GO:0005730, GO:0005656, GO:0005654, GO:0005654, Rix1 complex, cytoplasm, nucleolus, nuclear pre-replicative complex, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0030174, GO:0007275, GO:0006364, GO:0006364, regulation of DNA-dependent DNA replication initiation, multicellular organism development, rRNA processing, rRNA processing, 8 4 22 33 13 26 34 7 34 ENSG00000065308 chr6 52497402 52576915 - TRAM2 protein_coding TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]. 9697 GO:0030176, integral component of endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0045048, GO:0045048, GO:0032964, GO:0006616, protein insertion into ER membrane, protein insertion into ER membrane, collagen biosynthetic process, SRP-dependent cotranslational protein targeting to membrane, translocation, 104 96 114 126 121 145 105 72 115 ENSG00000065320 chr17 9021542 9244000 + NTN1 protein_coding Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]. 9423 GO:0005737, GO:0005604, GO:0005576, GO:0005576, cytoplasm, basement membrane, extracellular region, extracellular region, GO:0005515, protein binding, GO:2000147, GO:1902842, GO:0098609, GO:0061643, GO:0060603, GO:0045773, GO:0042472, GO:0033564, GO:0032488, GO:0030517, GO:0030334, GO:0016358, GO:0009888, GO:0009887, GO:0008284, GO:0008045, GO:0007265, GO:0007097, GO:0006930, GO:0006915, GO:0001764, positive regulation of cell motility, negative regulation of netrin-activated signaling pathway, cell-cell adhesion, chemorepulsion of axon, mammary gland duct morphogenesis, positive regulation of axon extension, inner ear morphogenesis, anterior/posterior axon guidance, Cdc42 protein signal transduction, negative regulation of axon extension, regulation of cell migration, dendrite development, tissue development, animal organ morphogenesis, positive regulation of cell population proliferation, motor neuron axon guidance, Ras protein signal transduction, nuclear migration, substrate-dependent cell migration, cell extension, apoptotic process, neuron migration, 1 0 1 10 0 2 0 0 2 ENSG00000065325 chr17 9822206 9892102 + GLP2R protein_coding This gene encodes a G protein-coupled receptor that is closely related to the glucagon receptor and binds to glucagon-like peptide-2 (GLP2). Signalling through GLP2 stimulates intestinal growth and increases villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. [provided by RefSeq, Dec 2014]. 9340 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0017046, GO:0008528, GO:0004967, GO:0004930, peptide hormone binding, G protein-coupled peptide receptor activity, glucagon receptor activity, G protein-coupled receptor activity, GO:0071377, GO:0008284, GO:0007188, GO:0007186, GO:0007166, cellular response to glucagon stimulus, positive regulation of cell population proliferation, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 2 1 0 4 4 0 6 7 3 ENSG00000065328 chr10 13161554 13211104 + MCM10 protein_coding The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 55388 GO:0031298, GO:0005730, GO:0005654, GO:0005654, GO:0005634, replication fork protection complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0042802, GO:0019899, GO:0005515, GO:0003697, GO:0003688, metal ion binding, identical protein binding, enzyme binding, protein binding, single-stranded DNA binding, DNA replication origin binding, GO:0008283, GO:0006974, GO:0006270, GO:0006260, GO:0000082, cell population proliferation, cellular response to DNA damage stimulus, DNA replication initiation, DNA replication, G1/S transition of mitotic cell cycle, 2 0 1 0 0 0 0 1 0 ENSG00000065357 chr12 55927319 55954027 + DGKA protein_coding The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Several transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2017]. 1606 GO:0016020, GO:0005886, GO:0005886, GO:0005829, membrane, plasma membrane, plasma membrane, cytosol, GO:0016301, GO:0008289, GO:0005543, GO:0005524, GO:0005509, GO:0004143, GO:0004143, GO:0003951, kinase activity, lipid binding, phospholipid binding, ATP binding, calcium ion binding, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:0046834, GO:0046834, GO:0046486, GO:0046339, GO:0046339, GO:0035556, GO:0030168, GO:0007205, GO:0006654, lipid phosphorylation, lipid phosphorylation, glycerolipid metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, intracellular signal transduction, platelet activation, protein kinase C-activating G protein-coupled receptor signaling pathway, phosphatidic acid biosynthetic process, 817 748 1130 873 621 1018 779 470 712 ENSG00000065361 chr12 56076799 56103505 + ERBB3 protein_coding This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 2065 GO:0043235, GO:0043235, GO:0043235, GO:0038143, GO:0016328, GO:0016324, GO:0016323, GO:0009925, GO:0005887, GO:0005886, GO:0005615, receptor complex, receptor complex, receptor complex, ERBB3:ERBB2 complex, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, GO:0046982, GO:0043125, GO:0042802, GO:0038132, GO:0038132, GO:0038131, GO:0031625, GO:0030296, GO:0019838, GO:0019838, GO:0005524, GO:0005515, GO:0004888, GO:0004714, GO:0004713, protein heterodimerization activity, ErbB-3 class receptor binding, identical protein binding, neuregulin binding, neuregulin binding, neuregulin receptor activity, ubiquitin protein ligase binding, protein tyrosine kinase activator activity, growth factor binding, growth factor binding, ATP binding, protein binding, transmembrane signaling receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2000145, GO:0097192, GO:0070886, GO:0061098, GO:0055025, GO:0051897, GO:0051402, GO:0051048, GO:0043524, GO:0042127, GO:0042060, GO:0038128, GO:0033674, GO:0021545, GO:0018108, GO:0014068, GO:0014065, GO:0014037, GO:0010628, GO:0009968, GO:0008284, GO:0007507, GO:0007422, GO:0007399, GO:0007275, GO:0007169, GO:0007169, GO:0007165, GO:0007162, GO:0003197, GO:0000165, regulation of cell motility, extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of calcineurin-NFAT signaling cascade, positive regulation of protein tyrosine kinase activity, positive regulation of cardiac muscle tissue development, positive regulation of protein kinase B signaling, neuron apoptotic process, negative regulation of secretion, negative regulation of neuron apoptotic process, regulation of cell population proliferation, wound healing, ERBB2 signaling pathway, positive regulation of kinase activity, cranial nerve development, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, Schwann cell differentiation, positive regulation of gene expression, negative regulation of signal transduction, positive regulation of cell population proliferation, heart development, peripheral nervous system development, nervous system development, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, negative regulation of cell adhesion, endocardial cushion development, MAPK cascade, 0 0 0 7 0 1 1 0 1 ENSG00000065371 chr3 123968521 123992178 - ROPN1 protein_coding The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]. 54763 GO:0031514, GO:0005737, GO:0005737, GO:0005634, motile cilium, cytoplasm, cytoplasm, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0061512, GO:0048240, GO:0048240, GO:0044782, GO:0030317, GO:0001932, protein localization to cilium, sperm capacitation, sperm capacitation, cilium organization, flagellated sperm motility, regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000065413 chr2 196967017 197311173 - ANKRD44 protein_coding 91526 GO:0005515, protein binding, 5887 6081 7532 4290 6169 5782 5190 4453 4962 ENSG00000065427 chr16 75627474 75648643 - KARS protein_coding Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3735 GO:0017101, GO:0017101, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005634, GO:0005634, GO:0005615, GO:0005615, aminoacyl-tRNA synthetase multienzyme complex, aminoacyl-tRNA synthetase multienzyme complex, plasma membrane, cytosol, cytosol, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, nucleus, extracellular space, extracellular space, GO:0042803, GO:0042802, GO:0016597, GO:0005524, GO:0005515, GO:0004824, GO:0004824, GO:0003877, GO:0003877, GO:0000049, GO:0000049, protein homodimerization activity, identical protein binding, amino acid binding, ATP binding, protein binding, lysine-tRNA ligase activity, lysine-tRNA ligase activity, ATP adenylyltransferase activity, ATP adenylyltransferase activity, tRNA binding, tRNA binding, GO:1905050, GO:1900745, GO:1900017, GO:0070374, GO:0070371, GO:0045893, GO:0043032, GO:0043032, GO:0033209, GO:0033209, GO:0016032, GO:0015966, GO:0015966, GO:0015966, GO:0010759, GO:0010165, GO:0008285, GO:0008033, GO:0006430, GO:0006430, GO:0006418, GO:0002720, GO:0002276, GO:0002276, GO:0000187, GO:0000187, positive regulation of metallopeptidase activity, positive regulation of p38MAPK cascade, positive regulation of cytokine production involved in inflammatory response, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, positive regulation of transcription, DNA-templated, positive regulation of macrophage activation, positive regulation of macrophage activation, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, viral process, diadenosine tetraphosphate biosynthetic process, diadenosine tetraphosphate biosynthetic process, diadenosine tetraphosphate biosynthetic process, positive regulation of macrophage chemotaxis, response to X-ray, negative regulation of cell population proliferation, tRNA processing, lysyl-tRNA aminoacylation, lysyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, positive regulation of cytokine production involved in immune response, basophil activation involved in immune response, basophil activation involved in immune response, activation of MAPK activity, activation of MAPK activity, 315 294 371 298 233 358 216 225 236 ENSG00000065457 chr16 75596981 75623300 - ADAT1 protein_coding This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]. 23536 GO:0046872, GO:0008251, GO:0003723, metal ion binding, tRNA-specific adenosine deaminase activity, RNA binding, GO:0008033, tRNA processing, 300 282 279 193 194 247 264 200 191 ENSG00000065485 chr3 123067062 123225227 + PDIA5 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]. 10954 GO:0005789, GO:0005788, endoplasmic reticulum membrane, endoplasmic reticulum lumen, GO:0016491, GO:0015037, GO:0005515, GO:0003756, oxidoreductase activity, peptide disulfide oxidoreductase activity, protein binding, protein disulfide isomerase activity, GO:0055114, GO:0036498, GO:0006457, oxidation-reduction process, IRE1-mediated unfolded protein response, protein folding, 0 1 2 0 0 1 1 2 4 ENSG00000065491 chr6 37257772 37332970 + TBC1D22B protein_coding 55633 GO:0071889, GO:0031267, GO:0005515, GO:0005096, 14-3-3 protein binding, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0006886, regulation of cilium assembly, activation of GTPase activity, intracellular protein transport, 53 54 80 52 49 53 39 48 45 ENSG00000065518 chr3 120596309 120602500 + NDUFB4 protein_coding This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]. 4710 GO:0031965, GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, GO:0005739, nuclear membrane, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006979, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, response to oxidative stress, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 133 131 176 100 111 161 122 147 94 ENSG00000065526 chr1 15847864 15940460 + SPEN protein_coding This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]. 23013 GO:0070062, GO:0017053, GO:0005654, GO:0005634, extracellular exosome, transcription repressor complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003714, GO:0003677, GO:0003676, GO:0001085, protein binding, RNA binding, transcription corepressor activity, DNA binding, nucleic acid binding, RNA polymerase II transcription factor binding, GO:0050769, GO:0045892, GO:0016032, GO:0007219, GO:0000398, GO:0000122, positive regulation of neurogenesis, negative regulation of transcription, DNA-templated, viral process, Notch signaling pathway, mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, 2990 3929 4074 1632 3208 2441 2263 2417 2144 ENSG00000065534 chr3 123610049 123884331 - MYLK protein_coding This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]. 4638 GO:0032154, GO:0032154, GO:0030027, GO:0030027, GO:0015629, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0001725, GO:0001725, cleavage furrow, cleavage furrow, lamellipodium, lamellipodium, actin cytoskeleton, plasma membrane, cytosol, cytoplasm, cytoplasm, stress fiber, stress fiber, GO:0046872, GO:0005524, GO:0005516, GO:0005515, GO:0004687, GO:0004687, GO:0004672, GO:0003779, metal ion binding, ATP binding, calmodulin binding, protein binding, myosin light chain kinase activity, myosin light chain kinase activity, protein kinase activity, actin binding, GO:0090303, GO:0071476, GO:0060414, GO:0051928, GO:0032060, GO:0030335, GO:0014820, GO:0014820, GO:0006939, GO:0006936, GO:0006468, positive regulation of wound healing, cellular hypotonic response, aorta smooth muscle tissue morphogenesis, positive regulation of calcium ion transport, bleb assembly, positive regulation of cell migration, tonic smooth muscle contraction, tonic smooth muscle contraction, smooth muscle contraction, muscle contraction, protein phosphorylation, 3 4 0 4 4 2 5 4 4 ENSG00000065548 chr2 186486156 186509363 + ZC3H15 protein_coding 55854 GO:0005829, GO:0005829, GO:0005730, cytosol, cytosol, nucleolus, GO:0046872, GO:0045296, GO:0005515, GO:0003723, metal ion binding, cadherin binding, protein binding, RNA binding, GO:0043547, GO:0019221, GO:0002181, positive regulation of GTPase activity, cytokine-mediated signaling pathway, cytoplasmic translation, 539 494 645 506 463 601 518 420 412 ENSG00000065559 chr17 12020824 12143830 + MAP2K4 protein_coding This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 6416 GO:0043204, GO:0032839, GO:0030424, GO:0005829, GO:0005634, perikaryon, dendrite cytoplasm, axon, cytosol, nucleus, GO:0031435, GO:0008545, GO:0005524, GO:0005515, GO:0004713, GO:0004708, GO:0004674, GO:0004672, mitogen-activated protein kinase kinase kinase binding, JUN kinase kinase activity, ATP binding, protein binding, protein tyrosine kinase activity, MAP kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000672, GO:0072709, GO:0071260, GO:0061049, GO:0051770, GO:0045740, GO:0043525, GO:0038095, GO:0034393, GO:0018108, GO:0009611, GO:0007257, GO:0007254, GO:0007165, GO:0006915, GO:0000187, negative regulation of motor neuron apoptotic process, cellular response to sorbitol, cellular response to mechanical stimulus, cell growth involved in cardiac muscle cell development, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of DNA replication, positive regulation of neuron apoptotic process, Fc-epsilon receptor signaling pathway, positive regulation of smooth muscle cell apoptotic process, peptidyl-tyrosine phosphorylation, response to wounding, activation of JUN kinase activity, JNK cascade, signal transduction, apoptotic process, activation of MAPK activity, 1379 1213 1466 916 1436 1043 1014 1015 857 ENSG00000065600 chr1 212363931 212414901 - TMEM206 protein_coding 55248 GO:0034707, GO:0009986, GO:0005887, chloride channel complex, cell surface, integral component of plasma membrane, GO:0061797, GO:0005515, pH-gated chloride channel activity, protein binding, GO:1902476, GO:0006821, chloride transmembrane transport, chloride transport, 9 14 17 15 5 13 21 8 19 ENSG00000065609 chr6 83552880 83709691 - SNAP91 protein_coding 9892 GO:0098894, GO:0030136, GO:0008021, GO:0005905, extrinsic component of presynaptic endocytic zone membrane, clathrin-coated vesicle, synaptic vesicle, clathrin-coated pit, GO:0032050, GO:0019901, GO:0005546, GO:0005545, GO:0005515, GO:0000149, clathrin heavy chain binding, protein kinase binding, phosphatidylinositol-4,5-bisphosphate binding, 1-phosphatidylinositol binding, protein binding, SNARE binding, GO:2000369, GO:0072583, GO:0048268, GO:0016185, GO:0015031, GO:0006900, regulation of clathrin-dependent endocytosis, clathrin-dependent endocytosis, clathrin coat assembly, synaptic vesicle budding from presynaptic endocytic zone membrane, protein transport, vesicle budding from membrane, 0 0 0 0 0 0 0 0 0 ENSG00000065613 chr10 103967201 104029233 + SLK protein_coding 9748 GO:0070062, GO:0048471, GO:0031252, GO:0005737, extracellular exosome, perinuclear region of cytoplasm, cell leading edge, cytoplasm, GO:0106311, GO:0106310, GO:0045296, GO:0042803, GO:0042802, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, cadherin binding, protein homodimerization activity, identical protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0051893, GO:0046777, GO:0042981, GO:0031122, GO:0030334, GO:0030334, GO:0006915, regulation of focal adhesion assembly, protein autophosphorylation, regulation of apoptotic process, cytoplasmic microtubule organization, regulation of cell migration, regulation of cell migration, apoptotic process, 1806 2100 2487 825 1302 1239 932 1047 1097 ENSG00000065615 chr6 83859643 83967424 + CYB5R4 protein_coding NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]. 51167 GO:0048471, GO:0005789, GO:0005783, GO:0005783, perinuclear region of cytoplasm, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0046872, GO:0020037, GO:0016653, GO:0016174, GO:0016174, GO:0004128, GO:0004128, metal ion binding, heme binding, oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor, NAD(P)H oxidase H2O2-forming activity, NAD(P)H oxidase H2O2-forming activity, cytochrome-b5 reductase activity, acting on NAD(P)H, cytochrome-b5 reductase activity, acting on NAD(P)H, GO:0055114, GO:0055114, GO:0048468, GO:0046677, GO:0042593, GO:0030073, GO:0015701, GO:0006801, GO:0006801, GO:0006091, GO:0006091, GO:0003032, oxidation-reduction process, oxidation-reduction process, cell development, response to antibiotic, glucose homeostasis, insulin secretion, bicarbonate transport, superoxide metabolic process, superoxide metabolic process, generation of precursor metabolites and energy, generation of precursor metabolites and energy, detection of oxygen, 2602 2360 2941 1072 2056 1664 1331 1721 1611 ENSG00000065618 chr10 104031286 104085957 - COL17A1 protein_coding This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]. 1308 GO:0062023, GO:0031012, GO:0030056, GO:0030056, GO:0005911, GO:0005887, GO:0005886, GO:0005788, GO:0005615, GO:0005604, GO:0005581, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, hemidesmosome, hemidesmosome, cell-cell junction, integral component of plasma membrane, plasma membrane, endoplasmic reticulum lumen, extracellular space, basement membrane, collagen trimer, extracellular region, GO:0030020, GO:0030020, GO:0005515, GO:0005201, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0050776, GO:0031581, GO:0031581, GO:0030198, GO:0008544, GO:0007160, regulation of immune response, hemidesmosome assembly, hemidesmosome assembly, extracellular matrix organization, epidermis development, cell-matrix adhesion, 1 5 8 2 15 16 2 6 8 ENSG00000065621 chr10 104268873 104304945 + GSTO2 protein_coding The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]. 119391 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0050610, GO:0045174, GO:0045174, GO:0042802, GO:0016491, GO:0005515, GO:0004364, methylarsonate reductase activity, glutathione dehydrogenase (ascorbate) activity, glutathione dehydrogenase (ascorbate) activity, identical protein binding, oxidoreductase activity, protein binding, glutathione transferase activity, GO:1901687, GO:0098869, GO:0071243, GO:0055114, GO:0055114, GO:0019852, GO:0019852, GO:0006805, glutathione derivative biosynthetic process, cellular oxidant detoxification, cellular response to arsenic-containing substance, oxidation-reduction process, oxidation-reduction process, L-ascorbic acid metabolic process, L-ascorbic acid metabolic process, xenobiotic metabolic process, 52 41 48 123 276 268 157 167 196 ENSG00000065665 chr10 12129637 12169961 + SEC61A2 protein_coding The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. 55176 GO:0016021, GO:0005829, GO:0005784, integral component of membrane, cytosol, Sec61 translocon complex, GO:0043022, GO:0008320, GO:0005048, GO:0003674, ribosome binding, protein transmembrane transporter activity, signal sequence binding, molecular_function, GO:0031204, GO:0008150, GO:0006616, posttranslational protein targeting to membrane, translocation, biological_process, SRP-dependent cotranslational protein targeting to membrane, translocation, 297 268 487 335 662 760 519 418 537 ENSG00000065675 chr10 6427143 6580301 - PRKCQ protein_coding Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]. 5588 GO:0034451, GO:0016235, GO:0005886, GO:0005829, GO:0001772, centriolar satellite, aggresome, plasma membrane, cytosol, immunological synapse, GO:0046872, GO:0005524, GO:0005515, GO:0004698, GO:0004674, GO:0004674, GO:0004674, GO:0004672, metal ion binding, ATP binding, protein binding, calcium-dependent protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000570, GO:2000318, GO:1904355, GO:0090330, GO:0070233, GO:0060326, GO:0051973, GO:0051092, GO:0050870, GO:0050852, GO:0046627, GO:0045652, GO:0042102, GO:0038095, GO:0035556, GO:0035556, GO:0032753, GO:0032743, GO:0032740, GO:0032212, GO:0030168, GO:0018105, GO:0007411, GO:0006954, GO:0006509, GO:0006355, GO:0001558, positive regulation of T-helper 2 cell activation, positive regulation of T-helper 17 type immune response, positive regulation of telomere capping, regulation of platelet aggregation, negative regulation of T cell apoptotic process, cell chemotaxis, positive regulation of telomerase activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of T cell activation, T cell receptor signaling pathway, negative regulation of insulin receptor signaling pathway, regulation of megakaryocyte differentiation, positive regulation of T cell proliferation, Fc-epsilon receptor signaling pathway, intracellular signal transduction, intracellular signal transduction, positive regulation of interleukin-4 production, positive regulation of interleukin-2 production, positive regulation of interleukin-17 production, positive regulation of telomere maintenance via telomerase, platelet activation, peptidyl-serine phosphorylation, axon guidance, inflammatory response, membrane protein ectodomain proteolysis, regulation of transcription, DNA-templated, regulation of cell growth, 80 58 102 154 97 187 187 67 163 ENSG00000065717 chr19 2997638 3047635 - TLE2 protein_coding 7089 GO:0016604, GO:0005925, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005615, nuclear body, focal adhesion, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, extracellular space, GO:0070491, GO:0005515, GO:0003714, GO:0003714, repressing transcription factor binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:1904837, GO:0090090, GO:0090090, GO:0045892, GO:0016055, GO:0009887, GO:0007165, beta-catenin-TCF complex assembly, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of transcription, DNA-templated, Wnt signaling pathway, animal organ morphogenesis, signal transduction, 9 0 8 25 5 10 15 6 17 ENSG00000065802 chr2 238426742 238452250 + ASB1 protein_coding The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]. 51665 GO:0005829, GO:0000151, GO:0000151, cytosol, ubiquitin ligase complex, ubiquitin ligase complex, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0043687, GO:0035556, GO:0030539, GO:0016567, GO:0016567, GO:0016567, GO:0001818, post-translational protein modification, intracellular signal transduction, male genitalia development, protein ubiquitination, protein ubiquitination, protein ubiquitination, negative regulation of cytokine production, 32 24 65 102 41 131 71 32 97 ENSG00000065809 chr10 14518557 14774897 - FAM107B protein_coding 83641 3066 2350 3875 1161 1424 1332 1145 1060 1118 ENSG00000065833 chr6 83210389 83431071 - ME1 protein_coding This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]. 4199 GO:0005829, GO:0005829, GO:0005739, cytosol, cytosol, mitochondrion, GO:0051287, GO:0050661, GO:0043531, GO:0042802, GO:0030145, GO:0009055, GO:0008948, GO:0004473, GO:0004473, GO:0004473, GO:0004471, GO:0004470, GO:0004470, GO:0004470, NAD binding, NADP binding, ADP binding, identical protein binding, manganese ion binding, electron transfer activity, oxaloacetate decarboxylase activity, malate dehydrogenase (decarboxylating) (NADP+) activity, malate dehydrogenase (decarboxylating) (NADP+) activity, malate dehydrogenase (decarboxylating) (NADP+) activity, malate dehydrogenase (decarboxylating) (NAD+) activity, malic enzyme activity, malic enzyme activity, malic enzyme activity, GO:1902031, GO:0022900, GO:0019216, GO:0009743, GO:0009725, GO:0009165, GO:0006108, GO:0006108, GO:0006090, GO:0006090, GO:0005975, regulation of NADP metabolic process, electron transport chain, regulation of lipid metabolic process, response to carbohydrate, response to hormone, nucleotide biosynthetic process, malate metabolic process, malate metabolic process, pyruvate metabolic process, pyruvate metabolic process, carbohydrate metabolic process, 2 0 4 7 5 5 5 3 2 ENSG00000065882 chr4 37891087 38139175 + TBC1D1 protein_coding TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]. 23216 GO:0005829, GO:0005634, cytosol, nucleus, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0061024, GO:0032880, GO:0006886, regulation of cilium assembly, activation of GTPase activity, membrane organization, regulation of protein localization, intracellular protein transport, 1801 2048 3291 925 1454 1700 1049 1156 1463 ENSG00000065883 chr7 39949646 40099580 + CDK13 protein_coding The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]. 8621 GO:1904813, GO:0019908, GO:0016607, GO:0008024, GO:0005829, GO:0005794, GO:0005654, GO:0005634, GO:0005615, GO:0005576, GO:0002945, GO:0000785, GO:0000307, ficolin-1-rich granule lumen, nuclear cyclin-dependent protein kinase holoenzyme complex, nuclear speck, cyclin/CDK positive transcription elongation factor complex, cytosol, Golgi apparatus, nucleoplasm, nucleus, extracellular space, extracellular region, cyclin K-CDK13 complex, chromatin, cyclin-dependent protein kinase holoenzyme complex, GO:0030332, GO:0030332, GO:0019901, GO:0008353, GO:0008353, GO:0005524, GO:0005515, GO:0004693, GO:0004672, GO:0003723, cyclin binding, cyclin binding, protein kinase binding, RNA polymerase II CTD heptapeptide repeat kinase activity, RNA polymerase II CTD heptapeptide repeat kinase activity, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein kinase activity, RNA binding, GO:2000737, GO:0070816, GO:0070816, GO:0043312, GO:0032968, GO:0030097, GO:0016032, GO:0008284, GO:0007275, GO:0007088, GO:0006468, GO:0006368, GO:0000380, GO:0000380, negative regulation of stem cell differentiation, phosphorylation of RNA polymerase II C-terminal domain, phosphorylation of RNA polymerase II C-terminal domain, neutrophil degranulation, positive regulation of transcription elongation from RNA polymerase II promoter, hemopoiesis, viral process, positive regulation of cell population proliferation, multicellular organism development, regulation of mitotic nuclear division, protein phosphorylation, transcription elongation from RNA polymerase II promoter, alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 764 764 876 602 643 819 662 581 676 ENSG00000065911 chr2 74198562 74217565 + MTHFD2 protein_coding This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]. 10797 GO:0005759, GO:0005739, GO:0005739, GO:0005615, mitochondrial matrix, mitochondrion, mitochondrion, extracellular space, GO:0042301, GO:0042301, GO:0005515, GO:0004488, GO:0004488, GO:0004488, GO:0004487, GO:0004487, GO:0004487, GO:0004477, GO:0004477, GO:0000287, GO:0000287, phosphate ion binding, phosphate ion binding, protein binding, methylenetetrahydrofolate dehydrogenase (NADP+) activity, methylenetetrahydrofolate dehydrogenase (NADP+) activity, methylenetetrahydrofolate dehydrogenase (NADP+) activity, methylenetetrahydrofolate dehydrogenase (NAD+) activity, methylenetetrahydrofolate dehydrogenase (NAD+) activity, methylenetetrahydrofolate dehydrogenase (NAD+) activity, methenyltetrahydrofolate cyclohydrolase activity, methenyltetrahydrofolate cyclohydrolase activity, magnesium ion binding, magnesium ion binding, GO:0055114, GO:0046655, GO:0046653, GO:0035999, oxidation-reduction process, folic acid metabolic process, tetrahydrofolate metabolic process, tetrahydrofolate interconversion, 71 66 139 84 62 152 115 43 113 ENSG00000065923 chrX 46599252 46759172 - SLC9A7 protein_coding This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 84679 GO:0055038, GO:0055037, GO:0043231, GO:0016021, GO:0005886, GO:0005886, GO:0005802, GO:0000139, recycling endosome membrane, recycling endosome, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, plasma membrane, trans-Golgi network, Golgi membrane, GO:0015386, GO:0015386, GO:0015385, GO:0015385, GO:0005515, potassium:proton antiporter activity, potassium:proton antiporter activity, sodium:proton antiporter activity, sodium:proton antiporter activity, protein binding, GO:1905526, GO:1902600, GO:0098719, GO:0098656, GO:0071805, GO:0051453, GO:0006885, GO:0006811, regulation of Golgi lumen acidification, proton transmembrane transport, sodium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, regulation of pH, ion transport, 119 118 114 100 160 132 103 108 94 ENSG00000065970 chr12 8032703 8055503 + FOXJ2 protein_coding 55810 GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000785, nucleoplasm, nucleus, nucleus, fibrillar center, chromatin, GO:1990837, GO:0042802, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, identical protein binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904707, GO:0110059, GO:0045944, GO:0016525, GO:0006357, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of blood vessel endothelial cell differentiation, positive regulation of transcription by RNA polymerase II, negative regulation of angiogenesis, regulation of transcription by RNA polymerase II, 961 1085 1340 206 479 382 289 370 383 ENSG00000065978 chr1 42682427 42702349 + YBX1 protein_coding This gene encodes a highly conserved cold shock domain protein that has broad nucleic acid binding properties. The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation, pre-mRNA splicing, DNA reparation and mRNA packaging. This protein is also a component of messenger ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing. This protein can be secreted through non-classical pathways and functions as an extracellular mitogen. Aberrant expression of the gene is associated with cancer proliferation in numerous tissues. This gene may be a prognostic marker for poor outcome and drug resistance in certain cancers. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Sep 2015]. 4904 GO:1990904, GO:1990124, GO:0071204, GO:0070937, GO:0070062, GO:0070062, GO:0043231, GO:0031965, GO:0010494, GO:0005829, GO:0005737, GO:0005689, GO:0005654, GO:0005634, GO:0005576, ribonucleoprotein complex, messenger ribonucleoprotein complex, histone pre-mRNA 3'end processing complex, CRD-mediated mRNA stability complex, extracellular exosome, extracellular exosome, intracellular membrane-bounded organelle, nuclear membrane, cytoplasmic stress granule, cytosol, cytoplasm, U12-type spliceosomal complex, nucleoplasm, nucleus, extracellular region, GO:1990837, GO:0062153, GO:0051020, GO:0035198, GO:0005515, GO:0003723, GO:0003723, GO:0003690, GO:0003677, GO:0003676, sequence-specific double-stranded DNA binding, C5-methylcytidine-containing RNA binding, GTPase binding, miRNA binding, protein binding, RNA binding, RNA binding, double-stranded DNA binding, DNA binding, nucleic acid binding, GO:2000773, GO:1990428, GO:1903608, GO:0070934, GO:0051781, GO:0051031, GO:0050658, GO:0048598, GO:0048255, GO:0045944, GO:0017148, GO:0010468, GO:0008544, GO:0007219, GO:0006355, GO:0000398, negative regulation of cellular senescence, miRNA transport, protein localization to cytoplasmic stress granule, CRD-mediated mRNA stabilization, positive regulation of cell division, tRNA transport, RNA transport, embryonic morphogenesis, mRNA stabilization, positive regulation of transcription by RNA polymerase II, negative regulation of translation, regulation of gene expression, epidermis development, Notch signaling pathway, regulation of transcription, DNA-templated, mRNA splicing, via spliceosome, 1001 1093 1398 1846 1309 1795 1397 979 1114 ENSG00000065989 chr19 10416773 10469631 + PDE4A protein_coding The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]. 5141 GO:0048471, GO:0048471, GO:0032587, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0005634, perinuclear region of cytoplasm, perinuclear region of cytoplasm, ruffle membrane, membrane, plasma membrane, cytosol, cytosol, nucleoplasm, nucleus, GO:0046872, GO:0030552, GO:0005515, GO:0004115, GO:0004115, GO:0004115, GO:0004114, metal ion binding, cAMP binding, protein binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0043949, GO:0035690, GO:0010738, GO:0007608, GO:0007186, GO:0007165, GO:0006198, regulation of cAMP-mediated signaling, cellular response to drug, regulation of protein kinase A signaling, sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, cAMP catabolic process, 31 43 98 24 10 15 44 18 19 ENSG00000066027 chr1 212285537 212361863 + PPP2R5A protein_coding The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. 5525 GO:0031430, GO:0030018, GO:0016020, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005634, GO:0000775, GO:0000159, GO:0000159, M band, Z disc, membrane, cytosol, cytosol, centrosome, cytoplasm, nucleus, chromosome, centromeric region, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0072542, GO:0019900, GO:0019888, GO:0005515, GO:0004721, protein phosphatase activator activity, kinase binding, protein phosphatase regulator activity, protein binding, phosphoprotein phosphatase activity, GO:1903077, GO:0090219, GO:0043666, GO:0035307, GO:0031952, GO:0007165, GO:0006470, GO:0006470, negative regulation of protein localization to plasma membrane, negative regulation of lipid kinase activity, regulation of phosphoprotein phosphatase activity, positive regulation of protein dephosphorylation, regulation of protein autophosphorylation, signal transduction, protein dephosphorylation, protein dephosphorylation, 2297 3149 3650 835 2423 1913 1163 2079 1569 ENSG00000066032 chr2 79185231 80648861 + CTNNA2 protein_coding 1496 GO:0098890, GO:0098831, GO:0098688, GO:0098686, GO:0030424, GO:0030027, GO:0016323, GO:0015629, GO:0014069, GO:0005912, GO:0005829, GO:0005737, GO:0005634, extrinsic component of postsynaptic membrane, presynaptic active zone cytoplasmic component, parallel fiber to Purkinje cell synapse, hippocampal mossy fiber to CA3 synapse, axon, lamellipodium, basolateral plasma membrane, actin cytoskeleton, postsynaptic density, adherens junction, cytosol, cytoplasm, nucleus, GO:0051015, GO:0045296, GO:0042802, GO:0005515, GO:0005200, actin filament binding, cadherin binding, identical protein binding, protein binding, structural constituent of cytoskeleton, GO:2001222, GO:0098885, GO:0098609, GO:0060134, GO:0051823, GO:0051149, GO:0048854, GO:0048813, GO:0034316, GO:0021942, GO:0010975, GO:0007409, GO:0007010, regulation of neuron migration, modification of postsynaptic actin cytoskeleton, cell-cell adhesion, prepulse inhibition, regulation of synapse structural plasticity, positive regulation of muscle cell differentiation, brain morphogenesis, dendrite morphogenesis, negative regulation of Arp2/3 complex-mediated actin nucleation, radial glia guided migration of Purkinje cell, regulation of neuron projection development, axonogenesis, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000066044 chr19 7958579 8005659 - ELAVL1 protein_coding The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012]. 1994 GO:1990904, GO:0098978, GO:0098794, GO:0016020, GO:0010494, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, glutamatergic synapse, postsynapse, membrane, cytoplasmic stress granule, cytosol, cytosol, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0042803, GO:0035925, GO:0035198, GO:0019901, GO:0017091, GO:0005515, GO:0003730, GO:0003730, GO:0003729, GO:0003725, GO:0003723, GO:0003723, protein homodimerization activity, mRNA 3'-UTR AU-rich region binding, miRNA binding, protein kinase binding, AU-rich element binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA binding, double-stranded RNA binding, RNA binding, RNA binding, GO:2000036, GO:0070935, GO:0070935, GO:0060965, GO:0060965, GO:0051260, GO:0048255, GO:0048255, GO:0045727, GO:0043488, GO:0006606, GO:0000398, regulation of stem cell population maintenance, 3'-UTR-mediated mRNA stabilization, 3'-UTR-mediated mRNA stabilization, negative regulation of gene silencing by miRNA, negative regulation of gene silencing by miRNA, protein homooligomerization, mRNA stabilization, mRNA stabilization, positive regulation of translation, regulation of mRNA stability, protein import into nucleus, mRNA splicing, via spliceosome, 137 127 153 116 143 198 144 121 192 ENSG00000066056 chr1 43300993 43323108 + TIE1 protein_coding This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 7075 GO:0043235, GO:0005887, receptor complex, integral component of plasma membrane, GO:0005524, GO:0005515, GO:0004714, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, GO:0045766, GO:0045026, GO:0033674, GO:0032526, GO:0030336, GO:0018108, GO:0016525, GO:0007498, GO:0007275, GO:0007169, GO:0007165, GO:0001701, GO:0001570, GO:0001525, positive regulation of angiogenesis, plasma membrane fusion, positive regulation of kinase activity, response to retinoic acid, negative regulation of cell migration, peptidyl-tyrosine phosphorylation, negative regulation of angiogenesis, mesoderm development, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, in utero embryonic development, vasculogenesis, angiogenesis, 0 2 0 0 3 0 0 1 0 ENSG00000066084 chr12 50504985 50748667 + DIP2B protein_coding This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]. 57609 GO:0070062, GO:0016020, GO:0005737, GO:0005634, extracellular exosome, membrane, cytoplasm, nucleus, GO:0003674, molecular_function, GO:0008150, biological_process, 2925 3403 3437 1621 2755 2281 1955 1959 1844 ENSG00000066117 chr12 50084972 50100712 + SMARCD1 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6602 GO:0071565, GO:0071564, GO:0043231, GO:0016514, GO:0016514, GO:0005654, GO:0005634, nBAF complex, npBAF complex, intracellular membrane-bounded organelle, SWI/SNF complex, SWI/SNF complex, nucleoplasm, nucleus, GO:0060090, GO:0005515, GO:0005102, GO:0003713, GO:0003682, GO:0001228, molecular adaptor activity, protein binding, signaling receptor binding, transcription coactivator activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, GO:0071398, GO:0048096, GO:0045944, GO:0007399, GO:0006357, GO:0006357, GO:0006338, GO:0006338, GO:0006337, GO:0006337, cellular response to fatty acid, chromatin-mediated maintenance of transcription, positive regulation of transcription by RNA polymerase II, nervous system development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, chromatin remodeling, nucleosome disassembly, nucleosome disassembly, 221 268 239 254 311 219 229 210 223 ENSG00000066135 chr1 43650158 43705515 + KDM4A protein_coding This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]. 9682 GO:0035097, GO:0005654, GO:0005634, GO:0005634, histone methyltransferase complex, nucleoplasm, nucleus, nucleus, GO:0051864, GO:0051864, GO:0035064, GO:0032454, GO:0032454, GO:0032452, GO:0031625, GO:0008270, GO:0005515, histone demethylase activity (H3-K36 specific), histone demethylase activity (H3-K36 specific), methylated histone binding, histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity, ubiquitin protein ligase binding, zinc ion binding, protein binding, GO:0070544, GO:0055114, GO:0045892, GO:0033169, GO:0016577, GO:0016032, GO:0010629, GO:0010507, GO:0006338, histone H3-K36 demethylation, oxidation-reduction process, negative regulation of transcription, DNA-templated, histone H3-K9 demethylation, histone demethylation, viral process, negative regulation of gene expression, negative regulation of autophagy, chromatin remodeling, 137 171 178 108 187 164 136 116 127 ENSG00000066136 chr1 40691648 40771603 + NFYC protein_coding This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 4802 GO:0090575, GO:0032993, GO:0016602, GO:0016602, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, protein-DNA complex, CCAAT-binding factor complex, CCAAT-binding factor complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0046982, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000978, GO:0000976, protein heterodimerization activity, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045540, GO:0006457, GO:0006357, GO:0006355, GO:0006355, positive regulation of transcription by RNA polymerase II, regulation of cholesterol biosynthetic process, protein folding, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 810 888 1090 698 1060 918 772 862 748 ENSG00000066185 chr1 42430329 42456267 - ZMYND12 protein_coding 84217 GO:0046872, GO:0005515, metal ion binding, protein binding, 0 0 2 4 0 0 0 0 0 ENSG00000066230 chr5 470458 524332 - SLC9A3 protein_coding The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]. 6550 GO:0070062, GO:0070062, GO:0031526, GO:0031526, GO:0016324, GO:0016324, GO:0016021, GO:0009986, GO:0005903, GO:0005886, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, extracellular exosome, brush border membrane, brush border membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, cell surface, brush border, plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0030165, GO:0015386, GO:0015385, GO:0015385, GO:0015385, GO:0005515, PDZ domain binding, potassium:proton antiporter activity, sodium:proton antiporter activity, sodium:proton antiporter activity, sodium:proton antiporter activity, protein binding, GO:1902600, GO:0098719, GO:0098719, GO:0098656, GO:0071805, GO:0051453, GO:0006811, proton transmembrane transport, sodium ion import across plasma membrane, sodium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, ion transport, 2 1 5 4 9 16 9 1 7 ENSG00000066248 chr2 232878686 233013272 - NGEF protein_coding 25791 GO:0030426, GO:0016020, GO:0005829, growth cone, membrane, cytosol, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0090630, GO:0061002, GO:0051056, GO:0048013, GO:0048013, GO:0043087, GO:0043065, GO:0007186, activation of GTPase activity, negative regulation of dendritic spine morphogenesis, regulation of small GTPase mediated signal transduction, ephrin receptor signaling pathway, ephrin receptor signaling pathway, regulation of GTPase activity, positive regulation of apoptotic process, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000066279 chr1 197084128 197146694 - ASPM protein_coding This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]. 259266 GO:0097431, GO:0072687, GO:0036449, GO:0030496, GO:0016324, GO:0005813, GO:0005737, GO:0005634, mitotic spindle pole, meiotic spindle, microtubule minus-end, midbody, apical plasma membrane, centrosome, cytoplasm, nucleus, GO:0005516, calmodulin binding, GO:0097150, GO:0090306, GO:0090263, GO:0051661, GO:0051653, GO:0051445, GO:0048589, GO:0048477, GO:0045769, GO:0045665, GO:0021987, GO:0021873, GO:0008584, GO:0007283, GO:0007051, GO:0002052, GO:0001764, neuronal stem cell population maintenance, spindle assembly involved in meiosis, positive regulation of canonical Wnt signaling pathway, maintenance of centrosome location, spindle localization, regulation of meiotic cell cycle, developmental growth, oogenesis, negative regulation of asymmetric cell division, negative regulation of neuron differentiation, cerebral cortex development, forebrain neuroblast division, male gonad development, spermatogenesis, spindle organization, positive regulation of neuroblast proliferation, neuron migration, 5 2 9 6 5 1 0 0 0 ENSG00000066294 chr1 160541095 160579516 - CD84 protein_coding This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]. 8832 GO:0043231, GO:0005887, GO:0005886, GO:0005886, intracellular membrane-bounded organelle, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:2001256, GO:0050900, GO:0045087, GO:0043305, GO:0033004, GO:0032701, GO:0032685, GO:0007156, GO:0006952, GO:0006914, GO:0002250, regulation of store-operated calcium entry, leukocyte migration, innate immune response, negative regulation of mast cell degranulation, negative regulation of mast cell activation, negative regulation of interleukin-18 production, negative regulation of granulocyte macrophage colony-stimulating factor production, homophilic cell adhesion via plasma membrane adhesion molecules, defense response, autophagy, adaptive immune response, 222 392 284 332 315 541 375 242 364 ENSG00000066322 chr1 43363397 43368074 - ELOVL1 protein_coding 64834 GO:0030176, GO:0030176, GO:0016020, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102756, GO:0102338, GO:0102337, GO:0102336, GO:0009922, GO:0009922, GO:0005515, very-long-chain 3-ketoacyl-CoA synthase activity, 3-oxo-lignoceronyl-CoA synthase activity, 3-oxo-cerotoyl-CoA synthase activity, 3-oxo-arachidoyl-CoA synthase activity, fatty acid elongase activity, fatty acid elongase activity, protein binding, GO:0061436, GO:0046513, GO:0043651, GO:0042761, GO:0042761, GO:0036109, GO:0035338, GO:0034626, GO:0034625, GO:0034625, GO:0030148, GO:0030148, GO:0019367, GO:0019367, GO:0006636, establishment of skin barrier, ceramide biosynthetic process, linoleic acid metabolic process, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, alpha-linolenic acid metabolic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, sphingolipid biosynthetic process, sphingolipid biosynthetic process, fatty acid elongation, saturated fatty acid, fatty acid elongation, saturated fatty acid, unsaturated fatty acid biosynthetic process, 507 392 678 227 284 293 236 252 262 ENSG00000066336 chr11 47354860 47378576 - SPI1 protein_coding This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6688 GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0051525, GO:0008134, GO:0005515, GO:0003723, GO:0003700, GO:0001228, GO:0001227, GO:0001085, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, NFAT protein binding, transcription factor binding, protein binding, RNA binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902895, GO:1902895, GO:1902262, GO:0090241, GO:0071361, GO:0070102, GO:0060033, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045814, GO:0045646, GO:0045347, GO:0044027, GO:0043966, GO:0043011, GO:0035019, GO:0030851, GO:0030225, GO:0030218, GO:0030154, GO:0030098, GO:0006357, GO:0002320, GO:0000122, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of pri-miRNA transcription by RNA polymerase II, apoptotic process involved in blood vessel morphogenesis, negative regulation of histone H4 acetylation, cellular response to ethanol, interleukin-6-mediated signaling pathway, anatomical structure regression, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of gene expression, epigenetic, regulation of erythrocyte differentiation, negative regulation of MHC class II biosynthetic process, hypermethylation of CpG island, histone H3 acetylation, myeloid dendritic cell differentiation, somatic stem cell population maintenance, granulocyte differentiation, macrophage differentiation, erythrocyte differentiation, cell differentiation, lymphocyte differentiation, regulation of transcription by RNA polymerase II, lymphoid progenitor cell differentiation, negative regulation of transcription by RNA polymerase II, 17707 16671 21758 9902 14771 13303 11577 11896 12350 ENSG00000066379 chr6 30058899 30064909 + ZNRD1 protein_coding This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 30834 GO:0005736, GO:0005654, RNA polymerase I complex, nucleoplasm, GO:0008270, GO:0005515, GO:0003899, GO:0003676, zinc ion binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, nucleic acid binding, GO:0045815, GO:0006379, GO:0006363, GO:0006363, GO:0006362, GO:0006361, GO:0006139, positive regulation of gene expression, epigenetic, mRNA cleavage, termination of RNA polymerase I transcription, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, nucleobase-containing compound metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000066382 chr11 30384493 30586872 - MPPED2 protein_coding This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. 744 GO:0030145, GO:0019002, GO:0016208, GO:0008081, GO:0005515, manganese ion binding, GMP binding, AMP binding, phosphoric diester hydrolase activity, protein binding, 0 0 0 0 0 0 1 2 0 ENSG00000066405 chr3 137998735 138033655 + CLDN18 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is upregulated in patients with ulcerative colitis and highly overexpressed in infiltrating ductal adenocarcinomas. PKC/MAPK/AP-1 (protein kinase C/mitogen-activated protein kinase/activator protein-1) dependent pathway regulates the expression of this gene in gastric cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2010]. 51208 GO:0016021, GO:0005923, GO:0005923, GO:0005886, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:2001205, GO:1900181, GO:0071847, GO:0070830, GO:0048565, GO:0045779, GO:0045471, GO:0016338, GO:0007155, negative regulation of osteoclast development, negative regulation of protein localization to nucleus, TNFSF11-mediated signaling pathway, bicellular tight junction assembly, digestive tract development, negative regulation of bone resorption, response to ethanol, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 0 0 0 0 0 3 0 0 0 ENSG00000066422 chr3 101648889 101677495 - ZBTB11 protein_coding 27107 GO:0005730, GO:0005654, GO:0000785, nucleolus, nucleoplasm, chromatin, GO:0046872, GO:0003674, GO:0000981, GO:0000978, metal ion binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0006355, biological_process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 815 859 1201 678 802 980 705 567 855 ENSG00000066427 chr14 92044496 92106625 - ATXN3 protein_coding Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]. 4287 GO:0045202, GO:0042405, GO:0031966, GO:0016363, GO:0005886, GO:0005829, GO:0005829, GO:0005789, GO:0005759, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, synapse, nuclear inclusion body, mitochondrial membrane, nuclear matrix, plasma membrane, cytosol, cytosol, endoplasmic reticulum membrane, mitochondrial matrix, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990380, GO:0061578, GO:0051117, GO:0031625, GO:0031625, GO:0008234, GO:0005515, GO:0004843, GO:0004843, Lys48-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, ATPase binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1904379, GO:1904294, GO:0071218, GO:0071108, GO:0070536, GO:0045104, GO:0043161, GO:0035520, GO:0034605, GO:0030036, GO:0016579, GO:0016579, GO:0016579, GO:0010810, GO:0007399, GO:0007268, GO:0006515, GO:0006511, GO:0006289, GO:0000226, protein localization to cytosolic proteasome complex involved in ERAD pathway, positive regulation of ERAD pathway, cellular response to misfolded protein, protein K48-linked deubiquitination, protein K63-linked deubiquitination, intermediate filament cytoskeleton organization, proteasome-mediated ubiquitin-dependent protein catabolic process, monoubiquitinated protein deubiquitination, cellular response to heat, actin cytoskeleton organization, protein deubiquitination, protein deubiquitination, protein deubiquitination, regulation of cell-substrate adhesion, nervous system development, chemical synaptic transmission, protein quality control for misfolded or incompletely synthesized proteins, ubiquitin-dependent protein catabolic process, nucleotide-excision repair, microtubule cytoskeleton organization, 164 199 170 114 204 194 152 184 196 ENSG00000066455 chr14 92794231 92839963 + GOLGA5 protein_coding The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]. 9950 GO:0031985, GO:0031985, GO:0030133, GO:0016021, GO:0016020, GO:0005801, GO:0005794, GO:0000139, GO:0000139, Golgi cisterna, Golgi cisterna, transport vesicle, integral component of membrane, membrane, cis-Golgi network, Golgi apparatus, Golgi membrane, Golgi membrane, GO:0042803, GO:0031267, protein homodimerization activity, small GTPase binding, GO:0048193, GO:0007030, GO:0007030, GO:0000301, Golgi vesicle transport, Golgi organization, Golgi organization, retrograde transport, vesicle recycling within Golgi, 165 210 193 118 164 174 125 136 112 ENSG00000066468 chr10 121478334 121598458 - FGFR2 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]. 2263 GO:0062023, GO:0060076, GO:0043235, GO:0031410, GO:0016021, GO:0016020, GO:0009986, GO:0005938, GO:0005887, GO:0005887, GO:0005886, GO:0005794, GO:0005737, GO:0005634, collagen-containing extracellular matrix, excitatory synapse, receptor complex, cytoplasmic vesicle, integral component of membrane, membrane, cell surface, cell cortex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, cytoplasm, nucleus, GO:0042803, GO:0017134, GO:0017134, GO:0017134, GO:0008201, GO:0005524, GO:0005515, GO:0005007, GO:0005007, GO:0005007, GO:0005007, GO:0004714, GO:0004713, protein homodimerization activity, fibroblast growth factor binding, fibroblast growth factor binding, fibroblast growth factor binding, heparin binding, ATP binding, protein binding, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0090263, GO:0071560, GO:0071300, GO:0070374, GO:0070372, GO:0060916, GO:0060915, GO:0060688, GO:0060670, GO:0060667, GO:0060664, GO:0060615, GO:0060601, GO:0060595, GO:0060529, GO:0060527, GO:0060523, GO:0060512, GO:0060501, GO:0060484, GO:0060463, GO:0060449, GO:0060445, GO:0060442, GO:0060349, GO:0060348, GO:0060174, GO:0060045, GO:0055010, GO:0051897, GO:0051781, GO:0051150, GO:0050679, GO:0048762, GO:0048755, GO:0048730, GO:0048705, GO:0048701, GO:0048661, GO:0048608, GO:0048568, GO:0048565, GO:0048562, GO:0048557, GO:0048333, GO:0048286, GO:0046777, GO:0045944, GO:0045787, GO:0045667, GO:0045471, GO:0045165, GO:0043410, GO:0042476, GO:0042472, GO:0042060, GO:0035607, GO:0035604, GO:0035603, GO:0035602, GO:0035265, GO:0033688, GO:0033674, GO:0032808, GO:0032496, GO:0031069, GO:0030916, GO:0030901, GO:0030855, GO:0030324, GO:0030282, GO:0030177, GO:0022612, GO:0021860, GO:0021847, GO:0021769, GO:0018108, GO:0016331, GO:0010839, GO:0010518, GO:0009887, GO:0009880, GO:0009791, GO:0008589, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0008284, GO:0007409, GO:0007275, GO:0007267, GO:0007169, GO:0006915, GO:0003416, GO:0003149, GO:0003148, GO:0002053, GO:0001837, GO:0001701, GO:0001657, GO:0001525, GO:0000165, GO:0000122, positive regulation of canonical Wnt signaling pathway, cellular response to transforming growth factor beta stimulus, cellular response to retinoic acid, positive regulation of ERK1 and ERK2 cascade, regulation of ERK1 and ERK2 cascade, mesenchymal cell proliferation involved in lung development, mesenchymal cell differentiation involved in lung development, regulation of morphogenesis of a branching structure, branching involved in labyrinthine layer morphogenesis, branch elongation involved in salivary gland morphogenesis, epithelial cell proliferation involved in salivary gland morphogenesis, mammary gland bud formation, lateral sprouting from an epithelium, fibroblast growth factor receptor signaling pathway involved in mammary gland specification, squamous basal epithelial stem cell differentiation involved in prostate gland acinus development, prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis, prostate epithelial cord elongation, prostate gland morphogenesis, positive regulation of epithelial cell proliferation involved in lung morphogenesis, lung-associated mesenchyme development, lung lobe morphogenesis, bud elongation involved in lung branching, branching involved in salivary gland morphogenesis, branching involved in prostate gland morphogenesis, bone morphogenesis, bone development, limb bud formation, positive regulation of cardiac muscle cell proliferation, ventricular cardiac muscle tissue morphogenesis, positive regulation of protein kinase B signaling, positive regulation of cell division, regulation of smooth muscle cell differentiation, positive regulation of epithelial cell proliferation, mesenchymal cell differentiation, branching morphogenesis of a nerve, epidermis morphogenesis, skeletal system morphogenesis, embryonic cranial skeleton morphogenesis, positive regulation of smooth muscle cell proliferation, reproductive structure development, embryonic organ development, digestive tract development, embryonic organ morphogenesis, embryonic digestive tract morphogenesis, mesodermal cell differentiation, lung alveolus development, protein autophosphorylation, positive regulation of transcription by RNA polymerase II, positive regulation of cell cycle, regulation of osteoblast differentiation, response to ethanol, cell fate commitment, positive regulation of MAPK cascade, odontogenesis, inner ear morphogenesis, wound healing, fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development, fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow, fibroblast growth factor receptor signaling pathway involved in hemopoiesis, fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell, organ growth, regulation of osteoblast proliferation, positive regulation of kinase activity, lacrimal gland development, response to lipopolysaccharide, hair follicle morphogenesis, otic vesicle formation, midbrain development, epithelial cell differentiation, lung development, bone mineralization, positive regulation of Wnt signaling pathway, gland morphogenesis, pyramidal neuron development, ventricular zone neuroblast division, orbitofrontal cortex development, peptidyl-tyrosine phosphorylation, morphogenesis of embryonic epithelium, negative regulation of keratinocyte proliferation, positive regulation of phospholipase activity, animal organ morphogenesis, embryonic pattern specification, post-embryonic development, regulation of smoothened signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, axonogenesis, multicellular organism development, cell-cell signaling, transmembrane receptor protein tyrosine kinase signaling pathway, apoptotic process, endochondral bone growth, membranous septum morphogenesis, outflow tract septum morphogenesis, positive regulation of mesenchymal cell proliferation, epithelial to mesenchymal transition, in utero embryonic development, ureteric bud development, angiogenesis, MAPK cascade, negative regulation of transcription by RNA polymerase II, 16 32 62 2 3 7 1 5 9 ENSG00000066557 chr1 70144805 70205620 - LRRC40 protein_coding 55631 GO:0043231, GO:0016020, GO:0005737, intracellular membrane-bounded organelle, membrane, cytoplasm, GO:0005515, GO:0004722, protein binding, protein serine/threonine phosphatase activity, GO:0007165, GO:0006470, signal transduction, protein dephosphorylation, 26 17 43 34 23 18 37 29 39 ENSG00000066583 chr5 129094751 129114028 + ISOC1 protein_coding 51015 GO:0005777, GO:0005737, peroxisome, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 10 35 12 28 32 19 21 41 25 ENSG00000066629 chr14 99737693 99942060 + EML1 protein_coding Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2009 GO:1990023, GO:0097431, GO:0072686, GO:0048471, GO:0015630, GO:0005875, GO:0005874, GO:0005829, mitotic spindle midzone, mitotic spindle pole, mitotic spindle, perinuclear region of cytoplasm, microtubule cytoskeleton, microtubule associated complex, microtubule, cytosol, GO:0015631, GO:0008017, GO:0008017, GO:0008017, GO:0005515, GO:0005509, tubulin binding, microtubule binding, microtubule binding, microtubule binding, protein binding, calcium ion binding, GO:0007420, GO:0007420, GO:0007405, GO:0007052, GO:0002244, GO:0000226, GO:0000226, brain development, brain development, neuroblast proliferation, mitotic spindle organization, hematopoietic progenitor cell differentiation, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000066651 chr6 125986430 126203817 + TRMT11 protein_coding 60487 GO:0005737, cytoplasm, GO:0008168, GO:0005515, GO:0004809, GO:0004809, GO:0000049, methyltransferase activity, protein binding, tRNA (guanine-N2-)-methyltransferase activity, tRNA (guanine-N2-)-methyltransferase activity, tRNA binding, GO:0030488, tRNA methylation, 15 23 11 59 19 49 43 21 5 ENSG00000066654 chr16 20702816 20742084 - THUMPD1 protein_coding 55623 GO:0005654, nucleoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0006400, GO:0000154, tRNA modification, rRNA modification, 480 591 497 265 359 455 269 308 357 ENSG00000066697 chr9 100427156 100451711 + MSANTD3 protein_coding 91283 GO:0042802, GO:0005515, identical protein binding, protein binding, 7 7 4 18 6 20 9 11 4 ENSG00000066735 chr14 104138723 104180894 + KIF26A protein_coding 26153 GO:0005874, GO:0005871, GO:0005829, microtubule, kinesin complex, cytosol, GO:0016887, GO:0016887, GO:0008017, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003777, ATPase activity, ATPase activity, microtubule binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, microtubule motor activity, GO:0048484, GO:0019886, GO:0009968, GO:0007018, GO:0007018, GO:0007018, GO:0006890, GO:0001560, enteric nervous system development, antigen processing and presentation of exogenous peptide antigen via MHC class II, negative regulation of signal transduction, microtubule-based movement, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, regulation of cell growth by extracellular stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000066739 chr14 96279202 96363870 - ATG2B protein_coding This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]. 55102 GO:0034045, GO:0019898, GO:0005811, GO:0005789, GO:0005654, GO:0000407, phagophore assembly site membrane, extrinsic component of membrane, lipid droplet, endoplasmic reticulum membrane, nucleoplasm, phagophore assembly site, GO:0120013, GO:0032266, lipid transfer activity, phosphatidylinositol-3-phosphate binding, GO:0120009, GO:0061709, GO:0044805, GO:0034727, GO:0000422, GO:0000045, intermembrane lipid transfer, reticulophagy, late nucleophagy, piecemeal microautophagy of the nucleus, autophagy of mitochondrion, autophagosome assembly, 737 876 947 583 926 791 679 591 605 ENSG00000066777 chr8 67173511 67343677 - ARFGEF1 protein_coding ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]. 10565 GO:0048471, GO:0030532, GO:0016363, GO:0005829, GO:0005802, GO:0005794, GO:0005730, GO:0005654, GO:0000139, perinuclear region of cytoplasm, small nuclear ribonucleoprotein complex, nuclear matrix, cytosol, trans-Golgi network, Golgi apparatus, nucleolus, nucleoplasm, Golgi membrane, GO:0034237, GO:0017022, GO:0005515, GO:0005096, GO:0005085, GO:0005085, protein kinase A regulatory subunit binding, myosin binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000114, GO:0090303, GO:0090284, GO:0051897, GO:0043547, GO:0034260, GO:0032012, GO:0031175, GO:0030837, GO:0015031, GO:0010256, GO:0007030, GO:0006887, regulation of establishment of cell polarity, positive regulation of wound healing, positive regulation of protein glycosylation in Golgi, positive regulation of protein kinase B signaling, positive regulation of GTPase activity, negative regulation of GTPase activity, regulation of ARF protein signal transduction, neuron projection development, negative regulation of actin filament polymerization, protein transport, endomembrane system organization, Golgi organization, exocytosis, 1403 1199 2003 653 772 957 836 524 806 ENSG00000066813 chr16 20536226 20576427 - ACSM2B protein_coding 348158 GO:0005759, GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, GO:0047760, GO:0046872, GO:0018858, GO:0015645, GO:0005524, GO:0005515, GO:0004321, GO:0003996, butyrate-CoA ligase activity, metal ion binding, benzoate-CoA ligase activity, fatty acid ligase activity, ATP binding, protein binding, fatty-acyl-CoA synthase activity, acyl-CoA ligase activity, GO:0006805, GO:0006637, GO:0006633, xenobiotic metabolic process, acyl-CoA metabolic process, fatty acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000066827 chr8 134477788 134713049 - ZFAT protein_coding This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]. 57623 GO:0005829, GO:0000785, cytosol, chromatin, GO:0046872, GO:0001228, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006355, GO:0002244, positive regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, hematopoietic progenitor cell differentiation, 122 131 158 49 90 68 76 51 97 ENSG00000066855 chr8 65644734 65771261 + MTFR1 protein_coding This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]. 9650 GO:0005886, GO:0005829, GO:0005739, GO:0005739, GO:0005739, plasma membrane, cytosol, mitochondrion, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0009060, GO:0009060, GO:0007005, GO:0000266, GO:0000266, aerobic respiration, aerobic respiration, mitochondrion organization, mitochondrial fission, mitochondrial fission, 113 119 116 170 148 175 146 102 130 ENSG00000066923 chr7 100177563 100221488 + STAG3 protein_coding The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]. 10734 GO:0030893, GO:0008278, GO:0005634, GO:0005615, GO:0000795, GO:0000785, GO:0000775, meiotic cohesin complex, cohesin complex, nucleus, extracellular space, synaptonemal complex, chromatin, chromosome, centromeric region, GO:0003682, chromatin binding, GO:0007130, GO:0007062, synaptonemal complex assembly, sister chromatid cohesion, 205 245 229 219 268 212 259 235 179 ENSG00000066926 chr18 57548283 57586772 - FECH protein_coding The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]. 2235 GO:0005759, GO:0005743, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, GO:0051537, GO:0008198, GO:0005515, GO:0004325, GO:0004325, 2 iron, 2 sulfur cluster binding, ferrous iron binding, protein binding, ferrochelatase activity, ferrochelatase activity, GO:0071549, GO:0070541, GO:0051597, GO:0046685, GO:0046501, GO:0045471, GO:0042493, GO:0017085, GO:0010288, GO:0009416, GO:0006783, GO:0006783, GO:0006783, GO:0006091, cellular response to dexamethasone stimulus, response to platinum ion, response to methylmercury, response to arsenic-containing substance, protoporphyrinogen IX metabolic process, response to ethanol, response to drug, response to insecticide, response to lead ion, response to light stimulus, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, generation of precursor metabolites and energy, 17 17 38 27 11 31 25 13 13 ENSG00000066933 chr15 71822289 72118577 - MYO9A protein_coding This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]. 4649 GO:0045202, GO:0044295, GO:0016461, GO:0016021, GO:0005829, synapse, axonal growth cone, unconventional myosin complex, integral component of membrane, cytosol, GO:0046872, GO:0005524, GO:0005515, GO:0005096, GO:0003779, GO:0003774, metal ion binding, ATP binding, protein binding, GTPase activator activity, actin binding, motor activity, GO:0150011, GO:0051056, GO:0045198, GO:0043547, GO:0035556, GO:0034329, GO:0007601, regulation of neuron projection arborization, regulation of small GTPase mediated signal transduction, establishment of epithelial cell apical/basal polarity, positive regulation of GTPase activity, intracellular signal transduction, cell junction assembly, visual perception, 75 61 117 120 61 117 95 42 95 ENSG00000067048 chrY 12904108 12920478 + DDX3Y protein_coding The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. 8653 GO:0043186, GO:0016020, GO:0005829, GO:0005654, GO:0005634, P granule, membrane, cytosol, nucleoplasm, nucleus, GO:0005524, GO:0003724, GO:0003723, GO:0003677, ATP binding, RNA helicase activity, RNA binding, DNA binding, GO:0030154, GO:0007276, cell differentiation, gamete generation, 4747 4372 6062 19385 23949 25861 18823 12911 17263 ENSG00000067057 chr10 3066333 3137712 + PFKP protein_coding This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 5214 GO:0070062, GO:0016020, GO:0016020, GO:0005945, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, membrane, membrane, 6-phosphofructokinase complex, cytosol, cytoplasm, nucleus, GO:0070095, GO:0048029, GO:0046872, GO:0045296, GO:0044877, GO:0042802, GO:0016208, GO:0005524, GO:0005515, GO:0003872, GO:0003872, GO:0003872, fructose-6-phosphate binding, monosaccharide binding, metal ion binding, cadherin binding, protein-containing complex binding, identical protein binding, AMP binding, ATP binding, protein binding, 6-phosphofructokinase activity, 6-phosphofructokinase activity, 6-phosphofructokinase activity, GO:1990830, GO:0061621, GO:0061621, GO:0030388, GO:0006002, cellular response to leukemia inhibitory factor, canonical glycolysis, canonical glycolysis, fructose 1,6-bisphosphate metabolic process, fructose 6-phosphate metabolic process, 38 30 62 125 40 218 118 26 113 ENSG00000067064 chr10 1039152 1049170 - IDI1 protein_coding IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008]. 3422 GO:0005829, GO:0005777, GO:0005737, cytosol, peroxisome, cytoplasm, GO:0046872, GO:0016787, GO:0004452, metal ion binding, hydrolase activity, isopentenyl-diphosphate delta-isomerase activity, GO:0050992, GO:0045540, GO:0009240, GO:0006695, dimethylallyl diphosphate biosynthetic process, regulation of cholesterol biosynthetic process, isopentenyl diphosphate biosynthetic process, cholesterol biosynthetic process, 1693 1674 1710 1383 2017 1513 1370 1490 1273 ENSG00000067066 chr2 230415942 230544090 + SP100 protein_coding This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]. 6672 GO:0030870, GO:0016605, GO:0016604, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, Mre11 complex, PML body, nuclear body, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0070087, GO:0046983, GO:0042802, GO:0019904, GO:0019900, GO:0005515, GO:0003677, GO:0000981, GO:0000981, chromo shadow domain binding, protein dimerization activity, identical protein binding, protein domain specific binding, kinase binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:1902044, GO:1902041, GO:0060337, GO:0060333, GO:0060333, GO:0051271, GO:0046826, GO:0045893, GO:0045765, GO:0045185, GO:0043433, GO:0043392, GO:0034341, GO:0034341, GO:0034340, GO:0034340, GO:0016032, GO:0010596, GO:0006978, GO:0006357, GO:0000723, GO:0000122, regulation of Fas signaling pathway, regulation of extrinsic apoptotic signaling pathway via death domain receptors, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, negative regulation of cellular component movement, negative regulation of protein export from nucleus, positive regulation of transcription, DNA-templated, regulation of angiogenesis, maintenance of protein location, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA binding, response to interferon-gamma, response to interferon-gamma, response to type I interferon, response to type I interferon, viral process, negative regulation of endothelial cell migration, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, regulation of transcription by RNA polymerase II, telomere maintenance, negative regulation of transcription by RNA polymerase II, 1915 1514 2211 1334 1736 1739 1640 1365 1654 ENSG00000067082 chr10 3775996 3785281 - KLF6 protein_coding This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]. 1316 GO:0043231, GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0001650, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, cytosol, nucleolus, nucleoplasm, nucleus, fibrillar center, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045893, GO:0030183, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, B cell differentiation, regulation of transcription by RNA polymerase II, 10099 10465 15761 5298 6643 7202 7275 7176 6522 ENSG00000067113 chr5 55424854 55535050 - PLPP1 protein_coding The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. 8611 GO:0070062, GO:0045121, GO:0016324, GO:0016020, GO:0005901, GO:0005887, GO:0005887, GO:0005886, extracellular exosome, membrane raft, apical plasma membrane, membrane, caveola, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0106235, GO:0042577, GO:0042577, GO:0042392, GO:0042392, GO:0008195, GO:0008195, GO:0008195, GO:0005515, GO:0000810, ceramide-1-phosphate phosphatase activity, lipid phosphatase activity, lipid phosphatase activity, sphingosine-1-phosphate phosphatase activity, sphingosine-1-phosphate phosphatase activity, phosphatidate phosphatase activity, phosphatidate phosphatase activity, phosphatidate phosphatase activity, protein binding, diacylglycerol diphosphate phosphatase activity, GO:0046839, GO:0046839, GO:0046839, GO:0030521, GO:0030518, GO:0030148, GO:0019216, GO:0008285, GO:0007205, GO:0007165, GO:0007165, GO:0006672, GO:0006670, GO:0006644, GO:0006644, GO:0006644, phospholipid dephosphorylation, phospholipid dephosphorylation, phospholipid dephosphorylation, androgen receptor signaling pathway, intracellular steroid hormone receptor signaling pathway, sphingolipid biosynthetic process, regulation of lipid metabolic process, negative regulation of cell population proliferation, protein kinase C-activating G protein-coupled receptor signaling pathway, signal transduction, signal transduction, ceramide metabolic process, sphingosine metabolic process, phospholipid metabolic process, phospholipid metabolic process, phospholipid metabolic process, 11 18 19 28 18 23 29 18 12 ENSG00000067141 chr15 73051710 73305206 + NEO1 protein_coding This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. 4756 GO:0098797, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005654, plasma membrane protein complex, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, nucleoplasm, GO:0039706, GO:0038023, GO:0005515, co-receptor binding, signaling receptor activity, protein binding, GO:0055072, GO:0030513, GO:0007411, GO:0007155, iron ion homeostasis, positive regulation of BMP signaling pathway, axon guidance, cell adhesion, 18 14 17 25 17 46 22 8 40 ENSG00000067167 chr8 70573442 70608387 - TRAM1 protein_coding This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009]. 23471 GO:0030176, GO:0030176, GO:0016021, GO:0005783, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, integral component of membrane, endoplasmic reticulum, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0045048, GO:0016032, GO:0006616, GO:0006613, protein insertion into ER membrane, viral process, SRP-dependent cotranslational protein targeting to membrane, translocation, cotranslational protein targeting to membrane, 449 370 509 477 333 499 408 308 462 ENSG00000067177 chrX 72578814 72714319 - PHKA1 protein_coding Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]. 5255 GO:0005964, GO:0005886, GO:0005829, phosphorylase kinase complex, plasma membrane, cytosol, GO:0005516, GO:0004689, calmodulin binding, phosphorylase kinase activity, GO:0006468, GO:0006091, GO:0005980, GO:0005977, protein phosphorylation, generation of precursor metabolites and energy, glycogen catabolic process, glycogen metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000067182 chr12 6328757 6342114 - TNFRSF1A protein_coding This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]. 7132 GO:0045121, GO:0045121, GO:0043235, GO:0043235, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005739, GO:0005615, GO:0005576, GO:0005576, GO:0002947, GO:0000139, membrane raft, membrane raft, receptor complex, receptor complex, membrane, cell surface, integral component of plasma membrane, plasma membrane, mitochondrion, extracellular space, extracellular region, extracellular region, tumor necrosis factor receptor superfamily complex, Golgi membrane, GO:0043120, GO:0043120, GO:0005515, GO:0005031, GO:0005031, tumor necrosis factor binding, tumor necrosis factor binding, protein binding, tumor necrosis factor-activated receptor activity, tumor necrosis factor-activated receptor activity, GO:2000304, GO:1903140, GO:1902339, GO:0072659, GO:0071550, GO:0071260, GO:0050729, GO:0050728, GO:0045944, GO:0045944, GO:0043123, GO:0042742, GO:0042531, GO:0033209, GO:0033209, GO:0019221, GO:0019221, GO:0016032, GO:0010803, GO:0010614, GO:0008630, GO:0008625, GO:0007249, GO:0006954, GO:0006954, GO:0006693, GO:0003332, GO:0003177, GO:0003176, positive regulation of ceramide biosynthetic process, regulation of establishment of endothelial barrier, positive regulation of apoptotic process involved in morphogenesis, protein localization to plasma membrane, death-inducing signaling complex assembly, cellular response to mechanical stimulus, positive regulation of inflammatory response, negative regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of I-kappaB kinase/NF-kappaB signaling, defense response to bacterium, positive regulation of tyrosine phosphorylation of STAT protein, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, viral process, regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of cardiac muscle hypertrophy, intrinsic apoptotic signaling pathway in response to DNA damage, extrinsic apoptotic signaling pathway via death domain receptors, I-kappaB kinase/NF-kappaB signaling, inflammatory response, inflammatory response, prostaglandin metabolic process, negative regulation of extracellular matrix constituent secretion, pulmonary valve development, aortic valve development, 6549 3701 6669 2742 2406 2383 3141 2166 2236 ENSG00000067191 chr17 39173456 39197703 - CACNB1 protein_coding The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 782 GO:0045202, GO:0042383, GO:0005891, GO:0005886, synapse, sarcolemma, voltage-gated calcium channel complex, plasma membrane, GO:0008331, GO:0005515, GO:0005245, high voltage-gated calcium channel activity, protein binding, voltage-gated calcium channel activity, GO:1904646, GO:1902514, GO:1901385, GO:0070588, GO:0061337, GO:0007528, GO:0007268, cellular response to amyloid-beta, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, regulation of voltage-gated calcium channel activity, calcium ion transmembrane transport, cardiac conduction, neuromuscular junction development, chemical synaptic transmission, 5 10 14 31 18 16 30 6 25 ENSG00000067208 chr1 92508696 92792404 - EVI5 protein_coding 7813 GO:0005829, GO:0005819, GO:0005815, GO:0005634, cytosol, spindle, microtubule organizing center, nucleus, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902017, GO:0090630, GO:0051301, GO:0043547, GO:0042147, GO:0007049, GO:0006886, regulation of cilium assembly, activation of GTPase activity, cell division, positive regulation of GTPase activity, retrograde transport, endosome to Golgi, cell cycle, intracellular protein transport, 301 283 372 152 243 216 185 182 190 ENSG00000067221 chr15 73978923 73994622 - STOML1 protein_coding 9399 GO:0045121, GO:0031902, GO:0016021, GO:0005886, GO:0005575, membrane raft, late endosome membrane, integral component of membrane, plasma membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, GO:0006869, biological_process, lipid transport, 14 13 13 5 5 11 16 13 5 ENSG00000067225 chr15 72199029 72231822 - PKM protein_coding This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]. 5315 GO:1904813, GO:1903561, GO:1902912, GO:0070062, GO:0062023, GO:0034774, GO:0031982, GO:0005929, GO:0005829, GO:0005829, GO:0005829, GO:0005791, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular vesicle, pyruvate kinase complex, extracellular exosome, collagen-containing extracellular matrix, secretory granule lumen, vesicle, cilium, cytosol, cytosol, cytosol, rough endoplasmic reticulum, mitochondrion, cytoplasm, cytoplasm, nucleus, nucleus, extracellular region, GO:0070324, GO:0045296, GO:0043531, GO:0042802, GO:0030955, GO:0023026, GO:0016301, GO:0005524, GO:0005515, GO:0004743, GO:0004743, GO:0004743, GO:0003729, GO:0003723, GO:0000287, thyroid hormone binding, cadherin binding, ADP binding, identical protein binding, potassium ion binding, MHC class II protein complex binding, kinase activity, ATP binding, protein binding, pyruvate kinase activity, pyruvate kinase activity, pyruvate kinase activity, mRNA binding, RNA binding, magnesium ion binding, GO:2000767, GO:1903672, GO:0061621, GO:0043403, GO:0043312, GO:0042866, GO:0032869, GO:0031100, GO:0014870, GO:0012501, GO:0009629, GO:0007584, GO:0006754, GO:0006096, GO:0001889, GO:0001666, positive regulation of cytoplasmic translation, positive regulation of sprouting angiogenesis, canonical glycolysis, skeletal muscle tissue regeneration, neutrophil degranulation, pyruvate biosynthetic process, cellular response to insulin stimulus, animal organ regeneration, response to muscle inactivity, programmed cell death, response to gravity, response to nutrient, ATP biosynthetic process, glycolytic process, liver development, response to hypoxia, 499 519 1020 674 535 1082 610 474 786 ENSG00000067248 chr5 55256245 55307722 - DHX29 protein_coding This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]. 54505 GO:0022627, GO:0016282, GO:0005622, cytosolic small ribosomal subunit, eukaryotic 43S preinitiation complex, intracellular anatomical structure, GO:0045296, GO:0043024, GO:0017111, GO:0008494, GO:0005524, GO:0003743, GO:0003724, GO:0003723, GO:0003723, cadherin binding, ribosomal small subunit binding, nucleoside-triphosphatase activity, translation activator activity, ATP binding, translation initiation factor activity, RNA helicase activity, RNA binding, RNA binding, GO:0045948, GO:0042255, GO:0001731, positive regulation of translational initiation, ribosome assembly, formation of translation preinitiation complex, 100 112 118 114 157 78 136 103 112 ENSG00000067334 chr1 93866283 93879918 - DNTTIP2 protein_coding This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]. 30836 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, 1024 990 1311 934 1060 1458 883 899 922 ENSG00000067365 chr16 8621683 8649654 + METTL22 protein_coding This gene encodes a member of the non-histone lysine methyltransferases. It interacts with its substrate, Kin17, which is involved in DNA repair and replication and mRNA processing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 79091 GO:0032991, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0031072, GO:0016279, GO:0008276, GO:0008276, GO:0005515, heat shock protein binding, protein-lysine N-methyltransferase activity, protein methyltransferase activity, protein methyltransferase activity, protein binding, GO:0018022, GO:0006479, GO:0006479, peptidyl-lysine methylation, protein methylation, protein methylation, 420 371 482 137 259 196 222 193 192 ENSG00000067369 chr15 43403061 43510728 - TP53BP1 protein_coding This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]. 7158 GO:1990391, GO:0035861, GO:0016604, GO:0005737, GO:0005657, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, GO:0000781, GO:0000777, DNA repair complex, site of double-strand break, nuclear body, cytoplasm, replication fork, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, chromosome, telomeric region, condensed chromosome kinetochore, GO:0061649, GO:0042393, GO:0042162, GO:0035064, GO:0005515, GO:0003712, GO:0003684, GO:0002039, GO:0001102, ubiquitin modification-dependent histone binding, histone binding, telomeric DNA binding, methylated histone binding, protein binding, transcription coregulator activity, damaged DNA binding, p53 binding, RNA polymerase II activating transcription factor binding, GO:2000042, GO:0071481, GO:0051260, GO:0051091, GO:0045944, GO:0045944, GO:0045893, GO:0045830, GO:0045830, GO:0006974, GO:0006303, GO:0006303, GO:0000077, negative regulation of double-strand break repair via homologous recombination, cellular response to X-ray, protein homooligomerization, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of isotype switching, positive regulation of isotype switching, cellular response to DNA damage stimulus, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, DNA damage checkpoint, 729 706 1132 406 519 488 422 365 334 ENSG00000067445 chrX 54920462 54931431 + TRO protein_coding This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. 7216 GO:0031226, intrinsic component of plasma membrane, GO:0005515, protein binding, GO:0007566, GO:0007156, embryo implantation, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 4 6 0 0 1 0 4 ENSG00000067533 chr1 218285287 218337983 + RRP15 protein_coding This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit. [provided by RefSeq, Jul 2008]. 51018 GO:0030687, preribosome, large subunit precursor, GO:0000470, GO:0000460, maturation of LSU-rRNA, maturation of 5.8S rRNA, 17 6 13 45 25 48 27 10 23 ENSG00000067560 chr3 49359145 49412998 - RHOA protein_coding This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]. 387 GO:0101003, GO:0098978, GO:0098978, GO:0098794, GO:0098794, GO:0071944, GO:0070062, GO:0043296, GO:0043231, GO:0043197, GO:0043197, GO:0042995, GO:0032587, GO:0032154, GO:0031982, GO:0031410, GO:0031234, GO:0030667, GO:0030496, GO:0030424, GO:0030054, GO:0030027, GO:0005938, GO:0005938, GO:0005925, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005789, GO:0005768, GO:0005634, ficolin-1-rich granule membrane, glutamatergic synapse, glutamatergic synapse, postsynapse, postsynapse, cell periphery, extracellular exosome, apical junction complex, intracellular membrane-bounded organelle, dendritic spine, dendritic spine, cell projection, ruffle membrane, cleavage furrow, vesicle, cytoplasmic vesicle, extrinsic component of cytoplasmic side of plasma membrane, secretory granule membrane, midbody, axon, cell junction, lamellipodium, cell cortex, cell cortex, focal adhesion, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, endoplasmic reticulum membrane, endosome, nucleus, GO:0051022, GO:0019904, GO:0019901, GO:0019003, GO:0017022, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, GO:0003924, Rho GDP-dissociation inhibitor binding, protein domain specific binding, protein kinase binding, GDP binding, myosin binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GTPase activity, GO:2000406, GO:2000177, GO:2000145, GO:1990869, GO:1905274, GO:1904996, GO:1904695, GO:1903673, GO:1903427, GO:1902766, GO:1901224, GO:1901224, GO:0097498, GO:0090324, GO:0090307, GO:0090051, GO:0071902, GO:0071803, GO:0071345, GO:0071222, GO:0070507, GO:0061383, GO:0060193, GO:0060193, GO:0060071, GO:0060071, GO:0051924, GO:0051893, GO:0051496, GO:0051496, GO:0051384, GO:0051056, GO:0050919, GO:0050773, GO:0050772, GO:0050771, GO:0048812, GO:0048015, GO:0048013, GO:0048010, GO:0046638, GO:0046039, GO:0045792, GO:0045727, GO:0045666, GO:0045471, GO:0045198, GO:0044319, GO:0043931, GO:0043542, GO:0043525, GO:0043524, GO:0043366, GO:0043312, GO:0043297, GO:0043280, GO:0043200, GO:0043149, GO:0043149, GO:0043124, GO:0043123, GO:0042493, GO:0042476, GO:0038027, GO:0036089, GO:0035385, GO:0034446, GO:0034329, GO:0033688, GO:0033144, GO:0032956, GO:0032956, GO:0032467, GO:0031532, GO:0031122, GO:0031098, GO:0030865, GO:0030838, GO:0030521, GO:0030334, GO:0030307, GO:0030036, GO:0021861, GO:0021795, GO:0021762, GO:0016579, GO:0016477, GO:0016477, GO:0016477, GO:0016032, GO:0010812, GO:0009749, GO:0009612, GO:0008360, GO:0007519, GO:0007266, GO:0007266, GO:0007266, GO:0007186, GO:0007179, GO:0007163, GO:0007160, GO:0007015, GO:0006357, GO:0003100, GO:0002363, GO:0001998, GO:0001666, positive regulation of T cell migration, regulation of neural precursor cell proliferation, regulation of cell motility, cellular response to chemokine, regulation of modification of postsynaptic actin cytoskeleton, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of vascular associated smooth muscle contraction, mitotic cleavage furrow formation, negative regulation of reactive oxygen species biosynthetic process, skeletal muscle satellite cell migration, positive regulation of NIK/NF-kappaB signaling, positive regulation of NIK/NF-kappaB signaling, endothelial tube lumen extension, negative regulation of oxidative phosphorylation, mitotic spindle assembly, negative regulation of cell migration involved in sprouting angiogenesis, positive regulation of protein serine/threonine kinase activity, positive regulation of podosome assembly, cellular response to cytokine stimulus, cellular response to lipopolysaccharide, regulation of microtubule cytoskeleton organization, trabecula morphogenesis, positive regulation of lipase activity, positive regulation of lipase activity, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, regulation of calcium ion transport, regulation of focal adhesion assembly, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, response to glucocorticoid, regulation of small GTPase mediated signal transduction, negative chemotaxis, regulation of dendrite development, positive regulation of axonogenesis, negative regulation of axonogenesis, neuron projection morphogenesis, phosphatidylinositol-mediated signaling, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of alpha-beta T cell differentiation, GTP metabolic process, negative regulation of cell size, positive regulation of translation, positive regulation of neuron differentiation, response to ethanol, establishment of epithelial cell apical/basal polarity, wound healing, spreading of cells, ossification involved in bone maturation, endothelial cell migration, positive regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, beta selection, neutrophil degranulation, apical junction assembly, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, response to amino acid, stress fiber assembly, stress fiber assembly, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, response to drug, odontogenesis, apolipoprotein A-I-mediated signaling pathway, cleavage furrow formation, Roundabout signaling pathway, substrate adhesion-dependent cell spreading, cell junction assembly, regulation of osteoblast proliferation, negative regulation of intracellular steroid hormone receptor signaling pathway, regulation of actin cytoskeleton organization, regulation of actin cytoskeleton organization, positive regulation of cytokinesis, actin cytoskeleton reorganization, cytoplasmic microtubule organization, stress-activated protein kinase signaling cascade, cortical cytoskeleton organization, positive regulation of actin filament polymerization, androgen receptor signaling pathway, regulation of cell migration, positive regulation of cell growth, actin cytoskeleton organization, forebrain radial glial cell differentiation, cerebral cortex cell migration, substantia nigra development, protein deubiquitination, cell migration, cell migration, cell migration, viral process, negative regulation of cell-substrate adhesion, response to glucose, response to mechanical stimulus, regulation of cell shape, skeletal muscle tissue development, Rho protein signal transduction, Rho protein signal transduction, Rho protein signal transduction, G protein-coupled receptor signaling pathway, transforming growth factor beta receptor signaling pathway, establishment or maintenance of cell polarity, cell-matrix adhesion, actin filament organization, regulation of transcription by RNA polymerase II, regulation of systemic arterial blood pressure by endothelin, alpha-beta T cell lineage commitment, angiotensin-mediated vasoconstriction involved in regulation of systemic arterial blood pressure, response to hypoxia, 7939 8379 10464 2505 5496 4181 3326 5064 3674 ENSG00000067596 chr17 43483865 43610338 + DHX8 protein_coding This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 1659 GO:0071013, GO:0071013, GO:0071007, GO:0016604, GO:0005681, GO:0005654, GO:0005634, GO:0005622, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear body, spliceosomal complex, nucleoplasm, nucleus, intracellular anatomical structure, GO:0042802, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003723, identical protein binding, ATP binding, protein binding, RNA helicase activity, RNA binding, RNA binding, GO:0008380, GO:0006396, GO:0000398, GO:0000398, GO:0000390, RNA splicing, RNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal complex disassembly, 749 813 869 474 690 640 565 544 466 ENSG00000067601 chr7 67295608 67302907 - PMS2P4 transcribed_unprocessed_pseudogene 5382 22 18 31 16 18 34 26 30 19 ENSG00000067606 chr1 2050470 2185395 + PRKCZ protein_coding Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 5590 GO:0070062, GO:0048471, GO:0045179, GO:0045121, GO:0043203, GO:0035748, GO:0031982, GO:0031252, GO:0030054, GO:0016363, GO:0016324, GO:0016020, GO:0014069, GO:0005923, GO:0005911, GO:0005886, GO:0005829, GO:0005829, GO:0005815, GO:0005768, GO:0005737, GO:0005635, GO:0001725, extracellular exosome, perinuclear region of cytoplasm, apical cortex, membrane raft, axon hillock, myelin sheath abaxonal region, vesicle, cell leading edge, cell junction, nuclear matrix, apical plasma membrane, membrane, postsynaptic density, bicellular tight junction, cell-cell junction, plasma membrane, cytosol, cytosol, microtubule organizing center, endosome, cytoplasm, nuclear envelope, stress fiber, GO:0071889, GO:0046872, GO:0044877, GO:0043560, GO:0043274, GO:0019901, GO:0015459, GO:0005524, GO:0005515, GO:0004698, GO:0004674, GO:0004674, GO:0004674, GO:0004672, 14-3-3 protein binding, metal ion binding, protein-containing complex binding, insulin receptor substrate binding, phospholipase binding, protein kinase binding, potassium channel regulator activity, ATP binding, protein binding, calcium-dependent protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000553, GO:2000463, GO:1990138, GO:0072659, GO:0070528, GO:0070374, GO:0060291, GO:0060081, GO:0051899, GO:0051346, GO:0051222, GO:0051092, GO:0050732, GO:0047496, GO:0046628, GO:0046627, GO:0045630, GO:0043066, GO:0035556, GO:0032869, GO:0032754, GO:0032753, GO:0032736, GO:0032733, GO:0032148, GO:0031584, GO:0031333, GO:0030010, GO:0018105, GO:0018105, GO:0016477, GO:0008284, GO:0007616, GO:0007179, GO:0007165, GO:0006954, GO:0006468, GO:0001954, GO:0000226, positive regulation of T-helper 2 cell cytokine production, positive regulation of excitatory postsynaptic potential, neuron projection extension, protein localization to plasma membrane, protein kinase C signaling, positive regulation of ERK1 and ERK2 cascade, long-term synaptic potentiation, membrane hyperpolarization, membrane depolarization, negative regulation of hydrolase activity, positive regulation of protein transport, positive regulation of NF-kappaB transcription factor activity, negative regulation of peptidyl-tyrosine phosphorylation, vesicle transport along microtubule, positive regulation of insulin receptor signaling pathway, negative regulation of insulin receptor signaling pathway, positive regulation of T-helper 2 cell differentiation, negative regulation of apoptotic process, intracellular signal transduction, cellular response to insulin stimulus, positive regulation of interleukin-5 production, positive regulation of interleukin-4 production, positive regulation of interleukin-13 production, positive regulation of interleukin-10 production, activation of protein kinase B activity, activation of phospholipase D activity, negative regulation of protein-containing complex assembly, establishment of cell polarity, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, cell migration, positive regulation of cell population proliferation, long-term memory, transforming growth factor beta receptor signaling pathway, signal transduction, inflammatory response, protein phosphorylation, positive regulation of cell-matrix adhesion, microtubule cytoskeleton organization, 154 211 232 152 213 151 144 142 145 ENSG00000067646 chrY 2935281 2982506 + ZFY protein_coding This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]. 7544 GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleus, GO:0046872, GO:0043565, GO:0005515, GO:0000981, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 103 89 169 105 39 92 84 51 67 ENSG00000067704 chr1 220094102 220148041 + IARS2 protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]. 55699 GO:0005829, GO:0005759, GO:0005739, GO:0005739, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0005524, GO:0004822, GO:0004822, GO:0002161, GO:0000049, ATP binding, isoleucine-tRNA ligase activity, isoleucine-tRNA ligase activity, aminoacyl-tRNA editing activity, tRNA binding, GO:0106074, GO:0032543, GO:0006428, GO:0006418, aminoacyl-tRNA metabolism involved in translational fidelity, mitochondrial translation, isoleucyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 88 72 92 118 87 145 86 62 96 ENSG00000067715 chr12 78863993 79452008 + SYT1 protein_coding The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]. 6857 GO:0070382, GO:0070083, GO:0061202, GO:0060203, GO:0060201, GO:0060076, GO:0044306, GO:0043005, GO:0042734, GO:0042584, GO:0031045, GO:0030672, GO:0030672, GO:0030665, GO:0030424, GO:0030285, GO:0008021, GO:0005886, GO:0005886, GO:0005794, GO:0005737, exocytic vesicle, clathrin-sculpted monoamine transport vesicle membrane, clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, clathrin-sculpted glutamate transport vesicle membrane, clathrin-sculpted acetylcholine transport vesicle membrane, excitatory synapse, neuron projection terminus, neuron projection, presynaptic membrane, chromaffin granule membrane, dense core granule, synaptic vesicle membrane, synaptic vesicle membrane, clathrin-coated vesicle membrane, axon, integral component of synaptic vesicle membrane, synaptic vesicle, plasma membrane, plasma membrane, Golgi apparatus, cytoplasm, GO:0061891, GO:0050750, GO:0048306, GO:0046982, GO:0042802, GO:0030348, GO:0030276, GO:0019905, GO:0017075, GO:0008022, GO:0005546, GO:0005544, GO:0005544, GO:0005544, GO:0005516, GO:0005515, GO:0005509, GO:0001786, GO:0000149, GO:0000149, calcium ion sensor activity, low-density lipoprotein particle receptor binding, calcium-dependent protein binding, protein heterodimerization activity, identical protein binding, syntaxin-3 binding, clathrin binding, syntaxin binding, syntaxin-1 binding, protein C-terminus binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, calmodulin binding, protein binding, calcium ion binding, phosphatidylserine binding, SNARE binding, SNARE binding, GO:1903861, GO:1903305, GO:1903235, GO:0098746, GO:0071911, GO:0071277, GO:0071277, GO:0061669, GO:0061024, GO:0051966, GO:0051291, GO:0050806, GO:0048791, GO:0048488, GO:0048278, GO:0033603, GO:0031340, GO:0017158, GO:0017157, GO:0017156, GO:0016192, GO:0014059, GO:0014047, GO:0007420, GO:0007269, GO:0007268, GO:0005513, positive regulation of dendrite extension, regulation of regulated secretory pathway, positive regulation of calcium ion-dependent exocytosis of neurotransmitter, fast, calcium ion-dependent exocytosis of neurotransmitter, synchronous neurotransmitter secretion, cellular response to calcium ion, cellular response to calcium ion, spontaneous neurotransmitter secretion, membrane organization, regulation of synaptic transmission, glutamatergic, protein heterooligomerization, positive regulation of synaptic transmission, calcium ion-regulated exocytosis of neurotransmitter, synaptic vesicle endocytosis, vesicle docking, positive regulation of dopamine secretion, positive regulation of vesicle fusion, regulation of calcium ion-dependent exocytosis, regulation of exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, glutamate secretion, brain development, neurotransmitter secretion, chemical synaptic transmission, detection of calcium ion, 0 0 0 0 0 0 0 0 0 ENSG00000067798 chr12 77324641 78213008 + NAV3 protein_coding This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]. 89795 GO:1990752, GO:0005640, microtubule end, nuclear outer membrane, GO:0016887, GO:0008017, GO:0005524, ATPase activity, microtubule binding, ATP binding, GO:1905929, GO:0032703, GO:0031116, GO:0030336, GO:0022008, GO:0007399, GO:0007026, positive regulation of invadopodium disassembly, negative regulation of interleukin-2 production, positive regulation of microtubule polymerization, negative regulation of cell migration, neurogenesis, nervous system development, negative regulation of microtubule depolymerization, 9 24 14 2 16 11 0 9 22 ENSG00000067829 chrX 153785766 153794523 - IDH3G protein_coding Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008]. 3421 GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005730, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, nucleolus, GO:0051287, GO:0005524, GO:0005515, GO:0004449, GO:0004449, GO:0000287, NAD binding, ATP binding, protein binding, isocitrate dehydrogenase (NAD+) activity, isocitrate dehydrogenase (NAD+) activity, magnesium ion binding, GO:0006102, GO:0006102, GO:0006099, GO:0006099, GO:0005975, isocitrate metabolic process, isocitrate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, carbohydrate metabolic process, 190 247 275 182 241 167 173 230 184 ENSG00000067836 chr16 4796968 4802950 - ROGDI protein_coding This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 79641 GO:0043291, GO:0043204, GO:0030425, GO:0030424, GO:0008021, GO:0005635, GO:0005634, RAVE complex, perikaryon, dendrite, axon, synaptic vesicle, nuclear envelope, nucleus, GO:0005515, protein binding, GO:0042475, GO:0032502, GO:0030097, GO:0022008, GO:0008284, GO:0007420, GO:0007035, odontogenesis of dentin-containing tooth, developmental process, hemopoiesis, neurogenesis, positive regulation of cell population proliferation, brain development, vacuolar acidification, 19 16 20 13 12 22 17 17 10 ENSG00000067840 chrX 153802166 153830565 - PDZD4 protein_coding 57595 GO:0005938, cell cortex, 17 16 49 33 23 102 49 31 91 ENSG00000067842 chrX 153517676 153582939 + ATP2B3 protein_coding The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 492 GO:1903561, GO:0098982, GO:0098982, GO:0098978, GO:0098978, GO:0098793, GO:0043231, GO:0016021, GO:0005887, GO:0005886, GO:0005886, extracellular vesicle, GABA-ergic synapse, GABA-ergic synapse, glutamatergic synapse, glutamatergic synapse, presynapse, intracellular membrane-bounded organelle, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1905056, GO:1905056, GO:0046872, GO:0030165, GO:0019829, GO:0015085, GO:0005524, GO:0005516, GO:0005515, GO:0005388, calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration, calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration, metal ion binding, PDZ domain binding, ATPase-coupled cation transmembrane transporter activity, calcium ion transmembrane transporter activity, ATP binding, calmodulin binding, protein binding, calcium transmembrane transporter activity, phosphorylative mechanism, GO:1990034, GO:1903779, GO:0099509, GO:0051480, GO:0051480, GO:0034220, GO:0006874, calcium ion export across plasma membrane, regulation of cardiac conduction, regulation of presynaptic cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, ion transmembrane transport, cellular calcium ion homeostasis, 1 0 0 0 0 0 0 0 0 ENSG00000067900 chr18 20946906 21111851 - ROCK1 protein_coding This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]. 6093 GO:0106003, GO:0034774, GO:0032059, GO:0030027, GO:0010494, GO:0010494, GO:0005886, GO:0005856, GO:0005856, GO:0005829, GO:0005814, GO:0005737, GO:0005576, GO:0001726, GO:0000139, amyloid-beta complex, secretory granule lumen, bleb, lamellipodium, cytoplasmic stress granule, cytoplasmic stress granule, plasma membrane, cytoskeleton, cytoskeleton, cytosol, centriole, cytoplasm, extracellular region, ruffle, Golgi membrane, GO:0106311, GO:0106310, GO:0072518, GO:0072518, GO:0050321, GO:0048156, GO:0046872, GO:0031267, GO:0019828, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, Rho-dependent protein serine/threonine kinase activity, Rho-dependent protein serine/threonine kinase activity, tau-protein kinase activity, tau protein binding, metal ion binding, small GTPase binding, aspartic-type endopeptidase inhibitor activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000145, GO:2000114, GO:1990776, GO:1905205, GO:1903347, GO:1903140, GO:1903140, GO:1902992, GO:1902430, GO:1902003, GO:1901888, GO:1900242, GO:1900223, GO:0140058, GO:0110061, GO:0097746, GO:0090521, GO:0072659, GO:0072659, GO:0071559, GO:0070507, GO:0070168, GO:0061157, GO:0051894, GO:0051893, GO:0051492, GO:0051451, GO:0051045, GO:0050901, GO:0050900, GO:0048598, GO:0048013, GO:0048010, GO:0045664, GO:0045616, GO:0043524, GO:0043410, GO:0043312, GO:0042326, GO:0035509, GO:0035509, GO:0032956, GO:0032956, GO:0032956, GO:0032091, GO:0032060, GO:0031175, GO:0031032, GO:0030866, GO:0030866, GO:0030866, GO:0030334, GO:0030155, GO:0030036, GO:0022614, GO:0018107, GO:0018105, GO:0016525, GO:0010951, GO:0010628, GO:0010628, GO:0010613, GO:0010508, GO:0010506, GO:0007266, GO:0007266, GO:0007249, GO:0007186, GO:0007165, GO:0007159, GO:0006939, GO:0006915, GO:0006468, GO:0003383, GO:0003180, GO:0000281, regulation of cell motility, regulation of establishment of cell polarity, response to angiotensin, positive regulation of connective tissue replacement, negative regulation of bicellular tight junction assembly, regulation of establishment of endothelial barrier, regulation of establishment of endothelial barrier, negative regulation of amyloid precursor protein catabolic process, negative regulation of amyloid-beta formation, regulation of amyloid-beta formation, regulation of cell junction assembly, regulation of synaptic vesicle endocytosis, positive regulation of amyloid-beta clearance, neuron projection arborization, regulation of angiotensin-activated signaling pathway, blood vessel diameter maintenance, glomerular visceral epithelial cell migration, protein localization to plasma membrane, protein localization to plasma membrane, response to transforming growth factor beta, regulation of microtubule cytoskeleton organization, negative regulation of biomineral tissue development, mRNA destabilization, positive regulation of focal adhesion assembly, regulation of focal adhesion assembly, regulation of stress fiber assembly, myoblast migration, negative regulation of membrane protein ectodomain proteolysis, leukocyte tethering or rolling, leukocyte migration, embryonic morphogenesis, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, regulation of neuron differentiation, regulation of keratinocyte differentiation, negative regulation of neuron apoptotic process, positive regulation of MAPK cascade, neutrophil degranulation, negative regulation of phosphorylation, negative regulation of myosin-light-chain-phosphatase activity, negative regulation of myosin-light-chain-phosphatase activity, regulation of actin cytoskeleton organization, regulation of actin cytoskeleton organization, regulation of actin cytoskeleton organization, negative regulation of protein binding, bleb assembly, neuron projection development, actomyosin structure organization, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, regulation of cell migration, regulation of cell adhesion, actin cytoskeleton organization, membrane to membrane docking, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, negative regulation of angiogenesis, negative regulation of endopeptidase activity, positive regulation of gene expression, positive regulation of gene expression, positive regulation of cardiac muscle hypertrophy, positive regulation of autophagy, regulation of autophagy, Rho protein signal transduction, Rho protein signal transduction, I-kappaB kinase/NF-kappaB signaling, G protein-coupled receptor signaling pathway, signal transduction, leukocyte cell-cell adhesion, smooth muscle contraction, apoptotic process, protein phosphorylation, apical constriction, aortic valve morphogenesis, mitotic cytokinesis, 6242 6184 7390 2515 3683 3795 3071 2940 3163 ENSG00000067955 chr16 67029116 67101058 + CBFB protein_coding The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 865 GO:0016513, GO:0016513, GO:0016020, GO:0005654, GO:0005634, core-binding factor complex, core-binding factor complex, membrane, nucleoplasm, nucleus, GO:0043565, GO:0043565, GO:0005515, GO:0003713, sequence-specific DNA binding, sequence-specific DNA binding, protein binding, transcription coactivator activity, GO:2000810, GO:1902036, GO:0060216, GO:0050855, GO:0048469, GO:0045944, GO:0045652, GO:0045637, GO:0045616, GO:0045589, GO:0043378, GO:0043371, GO:0033146, GO:0030111, GO:0030099, GO:0030098, GO:0006367, GO:0006366, GO:0006357, GO:0001959, GO:0001649, GO:0000209, GO:0000122, regulation of bicellular tight junction assembly, regulation of hematopoietic stem cell differentiation, definitive hemopoiesis, regulation of B cell receptor signaling pathway, cell maturation, positive regulation of transcription by RNA polymerase II, regulation of megakaryocyte differentiation, regulation of myeloid cell differentiation, regulation of keratinocyte differentiation, regulation of regulatory T cell differentiation, positive regulation of CD8-positive, alpha-beta T cell differentiation, negative regulation of CD4-positive, alpha-beta T cell differentiation, regulation of intracellular estrogen receptor signaling pathway, regulation of Wnt signaling pathway, myeloid cell differentiation, lymphocyte differentiation, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of cytokine-mediated signaling pathway, osteoblast differentiation, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 255 260 337 210 205 286 219 221 237 ENSG00000067992 chrX 24465221 24541862 + PDK3 protein_coding The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 5165 GO:0005759, GO:0005739, GO:0005739, GO:0005730, mitochondrial matrix, mitochondrion, mitochondrion, nucleolus, GO:0005524, GO:0005515, GO:0004740, GO:0004674, GO:0004674, GO:0004672, ATP binding, protein binding, pyruvate dehydrogenase (acetyl-transferring) kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000377, GO:1904183, GO:0097411, GO:0071398, GO:0071333, GO:0042593, GO:0035357, GO:0018105, GO:0010906, GO:0010510, GO:0010510, GO:0006006, regulation of reactive oxygen species metabolic process, negative regulation of pyruvate dehydrogenase activity, hypoxia-inducible factor-1alpha signaling pathway, cellular response to fatty acid, cellular response to glucose stimulus, glucose homeostasis, peroxisome proliferator activated receptor signaling pathway, peptidyl-serine phosphorylation, regulation of glucose metabolic process, regulation of acetyl-CoA biosynthetic process from pyruvate, regulation of acetyl-CoA biosynthetic process from pyruvate, glucose metabolic process, 451 401 517 213 413 364 317 317 344 ENSG00000068001 chr3 50317790 50322906 - HYAL2 protein_coding This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]. 8692 GO:0090575, GO:0048471, GO:0046658, GO:0045121, GO:0031410, GO:0031410, GO:0031362, GO:0031362, GO:0030139, GO:0016324, GO:0009986, GO:0009986, GO:0005902, GO:0005886, GO:0005829, GO:0005783, GO:0005764, GO:0005737, GO:0000139, RNA polymerase II transcription regulator complex, perinuclear region of cytoplasm, anchored component of plasma membrane, membrane raft, cytoplasmic vesicle, cytoplasmic vesicle, anchored component of external side of plasma membrane, anchored component of external side of plasma membrane, endocytic vesicle, apical plasma membrane, cell surface, cell surface, microvillus, plasma membrane, cytosol, endoplasmic reticulum, lysosome, cytoplasm, Golgi membrane, GO:0050431, GO:0033906, GO:0033906, GO:0030971, GO:0030294, GO:0019899, GO:0005540, GO:0005515, GO:0004415, GO:0004415, GO:0004415, GO:0003713, GO:0001618, transforming growth factor beta binding, hyaluronoglucuronidase activity, hyaluronoglucuronidase activity, receptor tyrosine kinase binding, receptor signaling protein tyrosine kinase inhibitor activity, enzyme binding, hyaluronic acid binding, protein binding, hyalurononglucosaminidase activity, hyalurononglucosaminidase activity, hyalurononglucosaminidase activity, transcription coactivator activity, virus receptor activity, GO:2001238, GO:0071560, GO:0071493, GO:0071356, GO:0071347, GO:0070295, GO:0061099, GO:0060586, GO:0051898, GO:0051607, GO:0051216, GO:0050729, GO:0048705, GO:0046718, GO:0046677, GO:0045944, GO:0044344, GO:0043407, GO:0042307, GO:0042117, GO:0035810, GO:0032757, GO:0032755, GO:0030308, GO:0030214, GO:0030214, GO:0030214, GO:0019087, GO:0019087, GO:0019064, GO:0010764, GO:0010259, GO:0009615, GO:0006027, GO:0005975, GO:0002244, GO:0001822, GO:0000302, positive regulation of extrinsic apoptotic signaling pathway, cellular response to transforming growth factor beta stimulus, cellular response to UV-B, cellular response to tumor necrosis factor, cellular response to interleukin-1, renal water absorption, negative regulation of protein tyrosine kinase activity, multicellular organismal iron ion homeostasis, negative regulation of protein kinase B signaling, defense response to virus, cartilage development, positive regulation of inflammatory response, skeletal system morphogenesis, viral entry into host cell, response to antibiotic, positive regulation of transcription by RNA polymerase II, cellular response to fibroblast growth factor stimulus, negative regulation of MAP kinase activity, positive regulation of protein import into nucleus, monocyte activation, positive regulation of urine volume, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, negative regulation of cell growth, hyaluronan catabolic process, hyaluronan catabolic process, hyaluronan catabolic process, transformation of host cell by virus, transformation of host cell by virus, fusion of virus membrane with host plasma membrane, negative regulation of fibroblast migration, multicellular organism aging, response to virus, glycosaminoglycan catabolic process, carbohydrate metabolic process, hematopoietic progenitor cell differentiation, kidney development, response to reactive oxygen species, 77 71 62 14 25 13 29 40 13 ENSG00000068024 chr2 239048168 239401654 - HDAC4 protein_coding Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]. 9759 GO:0042641, GO:0031672, GO:0031594, GO:0030018, GO:0017053, GO:0016607, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000118, actomyosin, A band, neuromuscular junction, Z disc, transcription repressor complex, nuclear speck, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, histone deacetylase complex, GO:1990841, GO:0070491, GO:0043565, GO:0042826, GO:0042802, GO:0033613, GO:0033558, GO:0033558, GO:0032041, GO:0030955, GO:0019901, GO:0019789, GO:0008270, GO:0008134, GO:0005515, GO:0004407, GO:0003714, GO:0001085, GO:0000978, GO:0000976, promoter-specific chromatin binding, repressing transcription factor binding, sequence-specific DNA binding, histone deacetylase binding, identical protein binding, activating transcription factor binding, protein deacetylase activity, protein deacetylase activity, NAD-dependent histone deacetylase activity (H3-K14 specific), potassium ion binding, protein kinase binding, SUMO transferase activity, zinc ion binding, transcription factor binding, protein binding, histone deacetylase activity, transcription corepressor activity, RNA polymerase II transcription factor binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1903428, GO:1902894, GO:1902437, GO:0071374, GO:0071356, GO:0071260, GO:0070933, GO:0070932, GO:0070555, GO:0051091, GO:0048742, GO:0048661, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0045820, GO:0045668, GO:0043525, GO:0043433, GO:0043393, GO:0042493, GO:0042113, GO:0040029, GO:0034983, GO:0033235, GO:0030183, GO:0016925, GO:0016575, GO:0016575, GO:0014911, GO:0014898, GO:0014894, GO:0010882, GO:0010832, GO:0010592, GO:0008285, GO:0008284, GO:0007399, GO:0006954, GO:0006476, GO:0006338, GO:0002076, GO:0001501, GO:0000122, GO:0000122, GO:0000122, positive regulation of reactive oxygen species biosynthetic process, negative regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of male mating behavior, cellular response to parathyroid hormone stimulus, cellular response to tumor necrosis factor, cellular response to mechanical stimulus, histone H4 deacetylation, histone H3 deacetylation, response to interleukin-1, positive regulation of DNA-binding transcription factor activity, regulation of skeletal muscle fiber development, positive regulation of smooth muscle cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of glycolytic process, negative regulation of osteoblast differentiation, positive regulation of neuron apoptotic process, negative regulation of DNA-binding transcription factor activity, regulation of protein binding, response to drug, B cell activation, regulation of gene expression, epigenetic, peptidyl-lysine deacetylation, positive regulation of protein sumoylation, B cell differentiation, protein sumoylation, histone deacetylation, histone deacetylation, positive regulation of smooth muscle cell migration, cardiac muscle hypertrophy in response to stress, response to denervation involved in regulation of muscle adaptation, regulation of cardiac muscle contraction by calcium ion signaling, negative regulation of myotube differentiation, positive regulation of lamellipodium assembly, negative regulation of cell population proliferation, positive regulation of cell population proliferation, nervous system development, inflammatory response, protein deacetylation, chromatin remodeling, osteoblast development, skeletal system development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 826 744 1340 477 498 691 598 406 660 ENSG00000068028 chr3 50329782 50340980 - RASSF1 protein_coding This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]. 11186 GO:0015630, GO:0015630, GO:0005874, GO:0005815, GO:0005737, GO:0005634, GO:0005634, GO:0000922, microtubule cytoskeleton, microtubule cytoskeleton, microtubule, microtubule organizing center, cytoplasm, nucleus, nucleus, spindle pole, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0070507, GO:0007265, GO:0007265, GO:0007165, GO:0007050, regulation of microtubule cytoskeleton organization, Ras protein signal transduction, Ras protein signal transduction, signal transduction, cell cycle arrest, 361 355 424 502 548 633 582 467 447 ENSG00000068078 chr4 1793293 1808872 + FGFR3 protein_coding This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]. 2261 GO:0043235, GO:0030133, GO:0005925, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005576, receptor complex, transport vesicle, focal adhesion, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, extracellular region, GO:0042802, GO:0017134, GO:0017134, GO:0005524, GO:0005515, GO:0005007, GO:0005007, GO:0004714, GO:0004713, identical protein binding, fibroblast growth factor binding, fibroblast growth factor binding, ATP binding, protein binding, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:1902178, GO:0070977, GO:0070374, GO:0060349, GO:0060349, GO:0051897, GO:0048640, GO:0046777, GO:0043552, GO:0043552, GO:0043410, GO:0043410, GO:0042531, GO:0035988, GO:0033674, GO:0030282, GO:0018108, GO:0010518, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0007275, GO:0007169, GO:0003416, GO:0002062, GO:0001958, GO:0001501, GO:0000165, fibroblast growth factor receptor apoptotic signaling pathway, bone maturation, positive regulation of ERK1 and ERK2 cascade, bone morphogenesis, bone morphogenesis, positive regulation of protein kinase B signaling, negative regulation of developmental growth, protein autophosphorylation, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAPK cascade, positive regulation of MAPK cascade, positive regulation of tyrosine phosphorylation of STAT protein, chondrocyte proliferation, positive regulation of kinase activity, bone mineralization, peptidyl-tyrosine phosphorylation, positive regulation of phospholipase activity, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, endochondral bone growth, chondrocyte differentiation, endochondral ossification, skeletal system development, MAPK cascade, 1 2 0 3 2 3 0 0 0 ENSG00000068079 chr17 43006725 43014456 + IFI35 protein_coding 3430 GO:0005829, GO:0005634, GO:0005634, cytosol, nucleus, nucleus, GO:0005515, protein binding, GO:0060337, type I interferon signaling pathway, 204 185 269 130 193 170 117 151 157 ENSG00000068097 chr17 60043194 60078931 - HEATR6 protein_coding 63897 GO:0003723, RNA binding, 13 13 26 18 27 35 12 19 27 ENSG00000068120 chr17 42561467 42566277 + COASY protein_coding Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]. 80347 GO:0070062, GO:0005759, GO:0005741, extracellular exosome, mitochondrial matrix, mitochondrial outer membrane, GO:0005524, GO:0005515, GO:0004595, GO:0004595, GO:0004595, GO:0004140, GO:0004140, GO:0004140, ATP binding, protein binding, pantetheine-phosphate adenylyltransferase activity, pantetheine-phosphate adenylyltransferase activity, pantetheine-phosphate adenylyltransferase activity, dephospho-CoA kinase activity, dephospho-CoA kinase activity, dephospho-CoA kinase activity, GO:0016310, GO:0015937, GO:0015937, GO:0015937, GO:0015937, phosphorylation, coenzyme A biosynthetic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, 223 236 274 110 174 157 88 125 92 ENSG00000068137 chr17 42667914 42676994 - PLEKHH3 protein_coding 79990 GO:0005856, GO:0005615, cytoskeleton, extracellular space, GO:0007165, signal transduction, 3 1 1 1 0 8 0 2 2 ENSG00000068305 chr15 99565417 99716466 + MEF2A protein_coding The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]. 4205 GO:0005829, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, cytosol, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0046982, GO:0046332, GO:0043565, GO:0042826, GO:0042826, GO:0035035, GO:0033613, GO:0019901, GO:0005515, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0001085, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, protein heterodimerization activity, SMAD binding, sequence-specific DNA binding, histone deacetylase binding, histone deacetylase binding, histone acetyltransferase binding, activating transcription factor binding, protein kinase binding, protein binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071277, GO:0070375, GO:0061337, GO:0055005, GO:0051149, GO:0048813, GO:0048311, GO:0046326, GO:0045944, GO:0045944, GO:0030154, GO:0010613, GO:0010613, GO:0007517, GO:0007507, GO:0007507, GO:0006915, GO:0006357, GO:0006351, GO:0000165, GO:0000122, GO:0000002, cellular response to calcium ion, ERK5 cascade, cardiac conduction, ventricular cardiac myofibril assembly, positive regulation of muscle cell differentiation, dendrite morphogenesis, mitochondrion distribution, positive regulation of glucose import, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cell differentiation, positive regulation of cardiac muscle hypertrophy, positive regulation of cardiac muscle hypertrophy, muscle organ development, heart development, heart development, apoptotic process, regulation of transcription by RNA polymerase II, transcription, DNA-templated, MAPK cascade, negative regulation of transcription by RNA polymerase II, mitochondrial genome maintenance, 758 333 606 592 426 614 670 266 427 ENSG00000068308 chrX 48922028 48958386 - OTUD5 protein_coding This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008]. 55593 GO:0005829, cytosol, GO:1990380, GO:0101005, GO:0061578, GO:0061578, GO:0061578, GO:0008234, GO:0004843, GO:0004843, Lys48-specific deubiquitinase activity, ubiquitinyl hydrolase activity, Lys63-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0071108, GO:0070536, GO:0032496, GO:0032480, GO:0016579, GO:0016579, GO:0016579, protein K48-linked deubiquitination, protein K63-linked deubiquitination, response to lipopolysaccharide, negative regulation of type I interferon production, protein deubiquitination, protein deubiquitination, protein deubiquitination, 2003 2300 2726 1808 2209 2358 1848 1788 1977 ENSG00000068323 chrX 49028726 49043486 - TFE3 protein_coding This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 7030 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0120163, GO:0090336, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045785, GO:0045670, GO:0006959, GO:0006357, GO:0002250, negative regulation of cold-induced thermogenesis, positive regulation of brown fat cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of cell adhesion, regulation of osteoclast differentiation, humoral immune response, regulation of transcription by RNA polymerase II, adaptive immune response, 4765 4815 7088 2051 3015 3487 2509 2245 2722 ENSG00000068354 chrX 48539457 48562609 + TBC1D25 protein_coding This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017]. 4943 GO:0031410, GO:0005776, GO:0005776, GO:0005776, cytoplasmic vesicle, autophagosome, autophagosome, autophagosome, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1901096, GO:1901096, GO:0090630, GO:0006914, GO:0006886, regulation of autophagosome maturation, regulation of autophagosome maturation, activation of GTPase activity, autophagy, intracellular protein transport, 380 411 416 268 359 387 275 274 367 ENSG00000068366 chrX 109624244 109733403 - ACSL4 protein_coding The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]. 2182 GO:0070062, GO:0044233, GO:0043025, GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005811, GO:0005811, GO:0005789, GO:0005783, GO:0005778, GO:0005741, GO:0005737, extracellular exosome, mitochondria-associated endoplasmic reticulum membrane, neuronal cell body, integral component of membrane, membrane, membrane, plasma membrane, lipid droplet, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum, peroxisomal membrane, mitochondrial outer membrane, cytoplasm, GO:0102391, GO:0047676, GO:0047676, GO:0031957, GO:0005524, GO:0004467, GO:0004467, GO:0004467, GO:0003996, decanoate-CoA ligase activity, arachidonate-CoA ligase activity, arachidonate-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, ATP binding, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, acyl-CoA ligase activity, GO:0070672, GO:0060996, GO:0060136, GO:0035338, GO:0035336, GO:0032024, GO:0030182, GO:0019432, GO:0015908, GO:0007584, GO:0006629, GO:0001676, GO:0001676, GO:0001676, response to interleukin-15, dendritic spine development, embryonic process involved in female pregnancy, long-chain fatty-acyl-CoA biosynthetic process, long-chain fatty-acyl-CoA metabolic process, positive regulation of insulin secretion, neuron differentiation, triglyceride biosynthetic process, fatty acid transport, response to nutrient, lipid metabolic process, long-chain fatty acid metabolic process, long-chain fatty acid metabolic process, long-chain fatty acid metabolic process, 1466 1636 1961 722 1248 1234 1011 1014 1245 ENSG00000068383 chr10 132537820 132783480 + INPP5A protein_coding The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]. 3632 GO:0030425, GO:0016020, GO:0016020, GO:0005886, GO:0005886, dendrite, membrane, membrane, plasma membrane, plasma membrane, GO:0052659, GO:0052658, GO:0042731, GO:0005515, GO:0004445, GO:0004445, GO:0004445, inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity, inositol-1,4,5-trisphosphate 5-phosphatase activity, PH domain binding, protein binding, inositol-polyphosphate 5-phosphatase activity, inositol-polyphosphate 5-phosphatase activity, inositol-polyphosphate 5-phosphatase activity, GO:1901215, GO:0048016, GO:0046856, GO:0046855, GO:0046855, GO:0043647, negative regulation of neuron death, inositol phosphate-mediated signaling, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, inositol phosphate dephosphorylation, inositol phosphate metabolic process, 374 437 488 262 409 317 318 311 285 ENSG00000068394 chrX 49113389 49123801 - GPKOW protein_coding This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]. 27238 GO:0005681, GO:0005681, GO:0005654, GO:0005654, GO:0005634, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0000398, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 140 122 166 86 84 69 74 87 70 ENSG00000068400 chrX 48973720 49002264 - GRIPAP1 protein_coding This gene encodes a guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF). The encoded protein interacts in a complex with glutamate receptor interacting protein 1 (GRIP1) and plays a role in the regulation of AMPA receptor function. [provided by RefSeq, Aug 2013]. 56850 GO:0098998, GO:0098978, GO:0098837, GO:0072562, GO:0055038, GO:0043231, GO:0030425, GO:0030424, GO:0005829, GO:0005654, extrinsic component of postsynaptic early endosome membrane, glutamatergic synapse, postsynaptic recycling endosome, blood microparticle, recycling endosome membrane, intracellular membrane-bounded organelle, dendrite, axon, cytosol, nucleoplasm, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:1905244, GO:0099158, GO:0099152, GO:0098887, GO:0008150, regulation of modification of synaptic structure, regulation of recycling endosome localization within postsynapse, regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane, neurotransmitter receptor transport, endosome to postsynaptic membrane, biological_process, 983 1132 1456 829 1086 1053 833 754 916 ENSG00000068438 chrX 48476021 48486364 + FTSJ1 protein_coding This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 24140 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0052666, GO:0009020, GO:0008175, GO:0008173, GO:0005515, tRNA (cytosine-2'-O-)-methyltransferase activity, tRNA (guanosine-2'-O-)-methyltransferase activity, tRNA methyltransferase activity, RNA methyltransferase activity, protein binding, GO:0030488, GO:0006400, GO:0002181, GO:0002128, GO:0001510, tRNA methylation, tRNA modification, cytoplasmic translation, tRNA nucleoside ribose methylation, RNA methylation, 43 38 57 81 38 53 58 40 79 ENSG00000068489 chr17 59155499 59204705 + PRR11 protein_coding 55771 GO:0016020, GO:0005737, GO:0005737, GO:0005634, GO:0005634, membrane, cytoplasm, cytoplasm, nucleus, nucleus, GO:0051726, GO:0007050, regulation of cell cycle, cell cycle arrest, 11 36 19 16 19 8 11 15 12 ENSG00000068615 chr2 86213993 86338083 - REEP1 protein_coding This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 65055 GO:0071782, GO:0071782, GO:0031966, GO:0016021, GO:0016020, GO:0016020, GO:0005881, GO:0005789, GO:0005783, GO:0005737, endoplasmic reticulum tubular network, endoplasmic reticulum tubular network, mitochondrial membrane, integral component of membrane, membrane, membrane, cytoplasmic microtubule, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, GO:0031849, GO:0031849, GO:0008017, GO:0008017, GO:0005515, olfactory receptor binding, olfactory receptor binding, microtubule binding, microtubule binding, protein binding, GO:0071786, GO:0071786, GO:0051205, GO:0032386, endoplasmic reticulum tubular network organization, endoplasmic reticulum tubular network organization, protein insertion into membrane, regulation of intracellular transport, 0 0 0 0 0 0 0 0 0 ENSG00000068650 chr13 112690329 112887168 + ATP11A protein_coding The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 23250 GO:0070821, GO:0055037, GO:0055037, GO:0043231, GO:0035579, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005802, GO:0005783, GO:0005783, GO:0005769, GO:0005765, tertiary granule membrane, recycling endosome, recycling endosome, intracellular membrane-bounded organelle, specific granule membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, trans-Golgi network, endoplasmic reticulum, endoplasmic reticulum, early endosome, lysosomal membrane, GO:0140326, GO:0005524, GO:0005515, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATP binding, protein binding, magnesium ion binding, GO:0045332, GO:0045332, GO:0043312, phospholipid translocation, phospholipid translocation, neutrophil degranulation, 2208 2414 3146 1095 1779 1767 1355 1439 1508 ENSG00000068654 chr2 86020216 86106155 - POLR1A protein_coding The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]. 25885 GO:0005736, GO:0005654, RNA polymerase I complex, nucleoplasm, GO:0008270, GO:0005515, GO:0003899, GO:0003682, GO:0003677, GO:0001054, zinc ion binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, chromatin binding, DNA binding, RNA polymerase I activity, GO:1904750, GO:0045815, GO:0006363, GO:0006362, GO:0006361, negative regulation of protein localization to nucleolus, positive regulation of gene expression, epigenetic, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, 18 25 67 70 20 76 46 20 38 ENSG00000068697 chr2 20032650 20052028 - LAPTM4A protein_coding This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]. 9741 GO:0031902, GO:0016021, GO:0005794, GO:0005765, GO:0005765, late endosome membrane, integral component of membrane, Golgi apparatus, lysosomal membrane, lysosomal membrane, GO:0005515, protein binding, 860 847 946 463 761 569 488 724 552 ENSG00000068724 chr2 46916157 47076137 + TTC7A protein_coding This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 57217 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0072659, GO:0072659, GO:0046854, GO:0030097, GO:0006879, protein localization to plasma membrane, protein localization to plasma membrane, phosphatidylinositol phosphorylation, hemopoiesis, cellular iron ion homeostasis, 163 127 185 119 122 185 124 115 99 ENSG00000068745 chr3 48688003 48740353 - IP6K2 protein_coding This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 51447 GO:0030054, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, cell junction, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0097243, GO:0016301, GO:0005524, GO:0005515, GO:0000832, GO:0000828, GO:0000828, flavonoid binding, kinase activity, ATP binding, protein binding, inositol hexakisphosphate 5-kinase activity, inositol hexakisphosphate kinase activity, inositol hexakisphosphate kinase activity, GO:1905396, GO:0060337, GO:0046854, GO:0046854, GO:0043647, GO:0043647, GO:0043065, GO:0032958, GO:0030308, GO:0006817, cellular response to flavonoid, type I interferon signaling pathway, phosphatidylinositol phosphorylation, phosphatidylinositol phosphorylation, inositol phosphate metabolic process, inositol phosphate metabolic process, positive regulation of apoptotic process, inositol phosphate biosynthetic process, negative regulation of cell growth, phosphate ion transport, 469 472 592 500 578 606 471 399 427 ENSG00000068781 chr2 48529925 48776517 + STON1-GTF2A1L protein_coding STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010]. 286749 0 0 0 0 0 0 0 0 0 ENSG00000068784 chr2 45388680 45612165 - SRBD1 protein_coding 55133 GO:0003735, GO:0003729, structural constituent of ribosome, mRNA binding, GO:0006412, GO:0006139, translation, nucleobase-containing compound metabolic process, 151 158 203 112 187 221 127 172 147 ENSG00000068796 chr5 62306162 62537249 + KIF2A protein_coding The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 3796 GO:0120103, GO:0097228, GO:0016604, GO:0016020, GO:0005876, GO:0005874, GO:0005871, GO:0005829, GO:0005819, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0000922, centriolar subdistal appendage, sperm principal piece, nuclear body, membrane, spindle microtubule, microtubule, kinesin complex, cytosol, spindle, centriole, centrosome, centrosome, cytoplasm, nucleolus, nucleoplasm, spindle pole, GO:0016887, GO:0008017, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003774, ATPase activity, microtubule binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, motor activity, GO:0090307, GO:0051301, GO:0030334, GO:0030154, GO:0019886, GO:0007399, GO:0007052, GO:0007019, GO:0007018, GO:0007018, GO:0006890, GO:0000226, mitotic spindle assembly, cell division, regulation of cell migration, cell differentiation, antigen processing and presentation of exogenous peptide antigen via MHC class II, nervous system development, mitotic spindle organization, microtubule depolymerization, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, microtubule cytoskeleton organization, 140 143 187 140 113 250 153 76 149 ENSG00000068831 chr11 64726911 64745456 - RASGRP2 protein_coding The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 10235 GO:0045202, GO:0043005, GO:0032587, GO:0005886, GO:0005829, GO:0005829, synapse, neuron projection, ruffle membrane, plasma membrane, cytosol, cytosol, GO:0019992, GO:0008289, GO:0005509, GO:0005509, GO:0005085, GO:0005085, diacylglycerol binding, lipid binding, calcium ion binding, calcium ion binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0071277, GO:0043547, GO:0007265, GO:0007165, GO:0001558, cellular response to calcium ion, positive regulation of GTPase activity, Ras protein signal transduction, signal transduction, regulation of cell growth, 1598 1608 1926 1662 1791 1990 1584 1473 1684 ENSG00000068878 chr2 53864067 53970840 - PSME4 protein_coding 23198 GO:1990111, GO:1990111, GO:0016607, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0005634, spermatoproteasome complex, spermatoproteasome complex, nuclear speck, cytosol, cytosol, cytosol, nucleoplasm, nucleus, nucleus, nucleus, GO:0070628, GO:0070577, GO:0070577, GO:0016504, GO:0016504, GO:0005515, proteasome binding, lysine-acetylated histone binding, lysine-acetylated histone binding, peptidase activator activity, peptidase activator activity, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0035093, GO:0035093, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010952, GO:0010499, GO:0010499, GO:0007275, GO:0006974, GO:0006521, GO:0006281, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, spermatogenesis, exchange of chromosomal proteins, spermatogenesis, exchange of chromosomal proteins, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, positive regulation of peptidase activity, proteasomal ubiquitin-independent protein catabolic process, proteasomal ubiquitin-independent protein catabolic process, multicellular organism development, cellular response to DNA damage stimulus, regulation of cellular amino acid metabolic process, DNA repair, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 1488 1393 2336 778 836 1016 822 688 734 ENSG00000068885 chr3 160256986 160399880 - IFT80 protein_coding The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]. 57560 GO:0097542, GO:0030992, GO:0030992, GO:0005929, GO:0005929, GO:0005813, GO:0005737, ciliary tip, intraciliary transport particle B, intraciliary transport particle B, cilium, cilium, centrosome, cytoplasm, GO:2000051, GO:1905515, GO:0060349, GO:0060271, GO:0050680, GO:0035735, GO:0007224, GO:0002062, GO:0001649, negative regulation of non-canonical Wnt signaling pathway, non-motile cilium assembly, bone morphogenesis, cilium assembly, negative regulation of epithelial cell proliferation, intraciliary transport involved in cilium assembly, smoothened signaling pathway, chondrocyte differentiation, osteoblast differentiation, 67 89 89 79 86 109 72 70 79 ENSG00000068903 chr19 38878555 38899862 - SIRT2 protein_coding This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]. 22933 GO:0097386, GO:0072687, GO:0072686, GO:0048471, GO:0044224, GO:0043220, GO:0043219, GO:0043209, GO:0043204, GO:0033270, GO:0033010, GO:0030496, GO:0030426, GO:0005886, GO:0005874, GO:0005829, GO:0005819, GO:0005814, GO:0005813, GO:0005739, GO:0005737, GO:0005730, GO:0005694, GO:0005677, GO:0005634, GO:0005634, GO:0000792, GO:0000781, glial cell projection, meiotic spindle, mitotic spindle, perinuclear region of cytoplasm, juxtaparanode region of axon, Schmidt-Lanterman incisure, lateral loop, myelin sheath, perikaryon, paranode region of axon, paranodal junction, midbody, growth cone, plasma membrane, microtubule, cytosol, spindle, centriole, centrosome, mitochondrion, cytoplasm, nucleolus, chromosome, chromatin silencing complex, nucleus, nucleus, heterochromatin, chromosome, telomeric region, GO:0070403, GO:0070403, GO:0046970, GO:0043130, GO:0042903, GO:0042826, GO:0035035, GO:0034979, GO:0034979, GO:0033558, GO:0033558, GO:0017136, GO:0017136, GO:0008270, GO:0008134, GO:0008134, GO:0005515, GO:0004407, GO:0003950, GO:0003950, GO:0003682, NAD+ binding, NAD+ binding, NAD-dependent histone deacetylase activity (H4-K16 specific), ubiquitin binding, tubulin deacetylase activity, histone deacetylase binding, histone acetyltransferase binding, NAD-dependent protein deacetylase activity, NAD-dependent protein deacetylase activity, protein deacetylase activity, protein deacetylase activity, NAD-dependent histone deacetylase activity, NAD-dependent histone deacetylase activity, zinc ion binding, transcription factor binding, transcription factor binding, protein binding, histone deacetylase activity, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, chromatin binding, GO:2000777, GO:2000378, GO:1900425, GO:1900226, GO:1900195, GO:1900119, GO:0090042, GO:0090042, GO:0090042, GO:0071872, GO:0071456, GO:0071219, GO:0070933, GO:0070932, GO:0070446, GO:0061433, GO:0061428, GO:0051987, GO:0051781, GO:0051775, GO:0051726, GO:0051321, GO:0051301, GO:0048012, GO:0045944, GO:0045892, GO:0045843, GO:0045836, GO:0045599, GO:0045087, GO:0044242, GO:0043491, GO:0043388, GO:0043161, GO:0042325, GO:0042177, GO:0035729, GO:0034983, GO:0034599, GO:0032436, GO:0031641, GO:0022011, GO:0021762, GO:0016575, GO:0014065, GO:0010801, GO:0010507, GO:0008285, GO:0007096, GO:0006914, GO:0006476, GO:0006476, GO:0006471, GO:0006471, GO:0006348, GO:0006342, GO:0000183, GO:0000122, GO:0000122, positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia, negative regulation of reactive oxygen species metabolic process, negative regulation of defense response to bacterium, negative regulation of NLRP3 inflammasome complex assembly, positive regulation of oocyte maturation, positive regulation of execution phase of apoptosis, tubulin deacetylation, tubulin deacetylation, tubulin deacetylation, cellular response to epinephrine stimulus, cellular response to hypoxia, cellular response to molecule of bacterial origin, histone H4 deacetylation, histone H3 deacetylation, negative regulation of oligodendrocyte progenitor proliferation, cellular response to caloric restriction, negative regulation of transcription from RNA polymerase II promoter in response to hypoxia, positive regulation of attachment of spindle microtubules to kinetochore, positive regulation of cell division, response to redox state, regulation of cell cycle, meiotic cell cycle, cell division, hepatocyte growth factor receptor signaling pathway, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of striated muscle tissue development, positive regulation of meiotic nuclear division, negative regulation of fat cell differentiation, innate immune response, cellular lipid catabolic process, protein kinase B signaling, positive regulation of DNA binding, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of phosphorylation, negative regulation of protein catabolic process, cellular response to hepatocyte growth factor stimulus, peptidyl-lysine deacetylation, cellular response to oxidative stress, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of myelination, myelination in peripheral nervous system, substantia nigra development, histone deacetylation, phosphatidylinositol 3-kinase signaling, negative regulation of peptidyl-threonine phosphorylation, negative regulation of autophagy, negative regulation of cell population proliferation, regulation of exit from mitosis, autophagy, protein deacetylation, protein deacetylation, protein ADP-ribosylation, protein ADP-ribosylation, chromatin silencing at telomere, chromatin silencing, rDNA heterochromatin assembly, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 909 1200 1085 1889 2196 2095 2101 1577 1643 ENSG00000068912 chr2 53787044 53818819 + ERLEC1 protein_coding This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]. 27248 GO:0044322, GO:0005788, endoplasmic reticulum quality control compartment, endoplasmic reticulum lumen, GO:0051082, GO:0005515, GO:0005515, unfolded protein binding, protein binding, protein binding, GO:1904153, GO:0055085, GO:0036503, negative regulation of retrograde protein transport, ER to cytosol, transmembrane transport, ERAD pathway, 77 43 111 44 35 83 72 31 70 ENSG00000068971 chr11 64917553 64934473 + PPP2R5B protein_coding The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]. 5526 GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0000159, cytosol, cytosol, cytoplasm, nucleus, protein phosphatase type 2A complex, GO:0072542, GO:0019888, GO:0005515, protein phosphatase activator activity, protein phosphatase regulator activity, protein binding, GO:0071363, GO:0071158, GO:0070317, GO:0051898, GO:0051388, GO:0051091, GO:0050730, GO:0045944, GO:0043666, GO:0036498, GO:0031952, GO:0031334, GO:0014066, GO:0010976, GO:0010469, GO:0006470, cellular response to growth factor stimulus, positive regulation of cell cycle arrest, negative regulation of G0 to G1 transition, negative regulation of protein kinase B signaling, positive regulation of neurotrophin TRK receptor signaling pathway, positive regulation of DNA-binding transcription factor activity, regulation of peptidyl-tyrosine phosphorylation, positive regulation of transcription by RNA polymerase II, regulation of phosphoprotein phosphatase activity, IRE1-mediated unfolded protein response, regulation of protein autophosphorylation, positive regulation of protein-containing complex assembly, regulation of phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, regulation of signaling receptor activity, protein dephosphorylation, 153 144 200 124 130 136 104 102 146 ENSG00000068976 chr11 64746389 64760297 - PYGM protein_coding This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]. 5837 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0102499, GO:0102250, GO:0030170, GO:0008184, GO:0005515, GO:0000166, SHG alpha-glucan phosphorylase activity, linear malto-oligosaccharide phosphorylase activity, pyridoxal phosphate binding, glycogen phosphorylase activity, protein binding, nucleotide binding, GO:0005980, GO:0005980, GO:0005977, glycogen catabolic process, glycogen catabolic process, glycogen metabolic process, 83 115 84 340 413 379 251 263 306 ENSG00000068985 chrX 49687450 49695993 - PAGE1 protein_coding This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein. [provided by RefSeq, Jul 2008]. 8712 GO:0005515, protein binding, 0 1 1 0 0 0 0 0 0 ENSG00000069011 chr5 135027735 135034813 - PITX1 protein_coding This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]. 5307 GO:0005737, GO:0005667, GO:0005634, GO:0005634, GO:0000785, cytoplasm, transcription regulator complex, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0001085, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051216, GO:0048625, GO:0045944, GO:0045892, GO:0035116, GO:0021983, GO:0014707, GO:0009653, GO:0006357, GO:0001501, cartilage development, myoblast fate commitment, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, embryonic hindlimb morphogenesis, pituitary gland development, branchiomeric skeletal muscle development, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000069018 chr5 136213320 136365545 - TRPC7 protein_coding 57113 GO:0048471, GO:0034703, GO:0005887, GO:0005886, GO:0005801, GO:0005635, perinuclear region of cytoplasm, cation channel complex, integral component of plasma membrane, plasma membrane, cis-Golgi network, nuclear envelope, GO:0070679, GO:0015279, GO:0005515, inositol 1,4,5 trisphosphate binding, store-operated calcium channel activity, protein binding, GO:0070588, GO:0070588, GO:0051480, GO:0030168, GO:0007338, GO:0006828, calcium ion transmembrane transport, calcium ion transmembrane transport, regulation of cytosolic calcium ion concentration, platelet activation, single fertilization, manganese ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000069020 chr5 66596361 67169595 + MAST4 protein_coding 375449 GO:0005737, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0018105, GO:0007010, intracellular signal transduction, peptidyl-serine phosphorylation, cytoskeleton organization, 47 40 84 54 25 74 75 16 50 ENSG00000069122 chr6 46852512 46954943 - ADGRF5 protein_coding 221395 GO:0045177, GO:0031410, GO:0016021, GO:0009986, GO:0005886, apical part of cell, cytoplasmic vesicle, integral component of membrane, cell surface, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0071073, GO:0061626, GO:0048821, GO:0045444, GO:0043129, GO:0043031, GO:0042593, GO:0007186, GO:0007166, GO:0006112, GO:0003094, positive regulation of phospholipid biosynthetic process, pharyngeal arch artery morphogenesis, erythrocyte development, fat cell differentiation, surfactant homeostasis, negative regulation of macrophage activation, glucose homeostasis, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, energy reserve metabolic process, glomerular filtration, 0 0 0 0 0 0 0 0 0 ENSG00000069188 chr17 73334384 73644089 - SDK2 protein_coding The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]. 54549 GO:0045202, GO:0045202, GO:0016021, GO:0005886, synapse, synapse, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0060219, GO:0045216, GO:0010842, GO:0010842, GO:0007416, GO:0007416, GO:0007156, GO:0007156, camera-type eye photoreceptor cell differentiation, cell-cell junction organization, retina layer formation, retina layer formation, synapse assembly, synapse assembly, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 1 6 2 8 5 10 10 2 1 ENSG00000069206 chr8 24440930 24526970 + ADAM7 protein_coding This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]. 8756 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0008237, GO:0004222, GO:0004175, metallopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000069248 chr1 229440260 229508341 - NUP133 protein_coding The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]. 55746 GO:0043657, GO:0031965, GO:0031080, GO:0031080, GO:0031080, GO:0016020, GO:0005829, GO:0005643, GO:0005635, GO:0000940, GO:0000777, host cell, nuclear membrane, nuclear pore outer ring, nuclear pore outer ring, nuclear pore outer ring, membrane, cytosol, nuclear pore, nuclear envelope, condensed chromosome outer kinetochore, condensed chromosome kinetochore, GO:0017056, GO:0017056, GO:0005515, structural constituent of nuclear pore, structural constituent of nuclear pore, protein binding, GO:1900034, GO:0075733, GO:0072006, GO:0061053, GO:0060964, GO:0048339, GO:0022008, GO:0021915, GO:0019083, GO:0016973, GO:0016925, GO:0016032, GO:0006999, GO:0006606, GO:0006409, GO:0006406, GO:0006406, GO:0006110, GO:0000972, regulation of cellular response to heat, intracellular transport of virus, nephron development, somite development, regulation of gene silencing by miRNA, paraxial mesoderm development, neurogenesis, neural tube development, viral transcription, poly(A)+ mRNA export from nucleus, protein sumoylation, viral process, nuclear pore organization, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery, 169 144 271 158 185 242 124 108 144 ENSG00000069275 chr1 205712819 205750276 - NUCKS1 protein_coding This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]. 64710 GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0008134, GO:0003723, GO:0003713, GO:0003697, GO:0003690, GO:0003690, GO:0003682, transcription factor binding, RNA binding, transcription coactivator activity, single-stranded DNA binding, double-stranded DNA binding, double-stranded DNA binding, chromatin binding, GO:1990969, GO:1990968, GO:0071481, GO:0060382, GO:0046628, GO:0046626, GO:0045944, GO:0044829, GO:0043923, GO:0036297, GO:0036297, GO:0035822, GO:0031297, GO:0019046, GO:0006357, GO:0006325, GO:0006275, GO:0001678, GO:0000724, GO:0000724, modulation by host of viral RNA-binding transcription factor activity, modulation by host of RNA binding by virus, cellular response to X-ray, regulation of DNA strand elongation, positive regulation of insulin receptor signaling pathway, regulation of insulin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation by host of viral genome replication, positive regulation by host of viral transcription, interstrand cross-link repair, interstrand cross-link repair, gene conversion, replication fork processing, release from viral latency, regulation of transcription by RNA polymerase II, chromatin organization, regulation of DNA replication, cellular glucose homeostasis, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 166 131 262 279 122 309 279 139 269 ENSG00000069329 chr16 46656132 46689518 - VPS35 protein_coding This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]. 55737 GO:0099073, GO:0098978, GO:0098793, GO:0097422, GO:0070062, GO:0048471, GO:0043025, GO:0043005, GO:0030906, GO:0030906, GO:0030904, GO:0030904, GO:0030904, GO:0030904, GO:0014069, GO:0010008, GO:0005829, GO:0005829, GO:0005770, GO:0005769, GO:0005768, GO:0005765, GO:0005764, GO:0005739, mitochondrion-derived vesicle, glutamatergic synapse, presynapse, tubular endosome, extracellular exosome, perinuclear region of cytoplasm, neuronal cell body, neuron projection, retromer, cargo-selective complex, retromer, cargo-selective complex, retromer complex, retromer complex, retromer complex, retromer complex, postsynaptic density, endosome membrane, cytosol, cytosol, late endosome, early endosome, endosome, lysosomal membrane, lysosome, mitochondrion, GO:0031748, GO:0005515, D1 dopamine receptor binding, protein binding, GO:2000331, GO:1990126, GO:1905606, GO:1905166, GO:1903828, GO:1903364, GO:1903181, GO:1902950, GO:1902823, GO:1901215, GO:0099639, GO:0099074, GO:0099003, GO:0098887, GO:0090326, GO:0090263, GO:0090141, GO:0061357, GO:0060548, GO:0060161, GO:0050882, GO:0050728, GO:0045056, GO:0043653, GO:0042147, GO:0042147, GO:0042147, GO:0036010, GO:0032463, GO:0032268, GO:0032268, GO:0031648, GO:0031647, GO:0016241, GO:0016055, GO:0016055, GO:0016032, GO:0010821, GO:0010629, GO:0010628, GO:0007040, GO:0006886, regulation of terminal button organization, retrograde transport, endosome to plasma membrane, regulation of presynapse assembly, negative regulation of lysosomal protein catabolic process, negative regulation of cellular protein localization, positive regulation of cellular protein catabolic process, positive regulation of dopamine biosynthetic process, regulation of dendritic spine maintenance, negative regulation of late endosome to lysosome transport, negative regulation of neuron death, neurotransmitter receptor transport, endosome to plasma membrane, mitochondrion to lysosome transport, vesicle-mediated transport in synapse, neurotransmitter receptor transport, endosome to postsynaptic membrane, positive regulation of locomotion involved in locomotory behavior, positive regulation of canonical Wnt signaling pathway, positive regulation of mitochondrial fission, positive regulation of Wnt protein secretion, negative regulation of cell death, positive regulation of dopamine receptor signaling pathway, voluntary musculoskeletal movement, negative regulation of inflammatory response, transcytosis, mitochondrial fragmentation involved in apoptotic process, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, protein localization to endosome, negative regulation of protein homooligomerization, regulation of cellular protein metabolic process, regulation of cellular protein metabolic process, protein destabilization, regulation of protein stability, regulation of macroautophagy, Wnt signaling pathway, Wnt signaling pathway, viral process, regulation of mitochondrion organization, negative regulation of gene expression, positive regulation of gene expression, lysosome organization, intracellular protein transport, 965 901 1051 293 509 532 378 503 389 ENSG00000069345 chr16 46955362 46973788 - DNAJA2 protein_coding The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]. 10294 GO:0070062, GO:0016020, GO:0005829, GO:0005829, GO:0005829, extracellular exosome, membrane, cytosol, cytosol, cytosol, GO:0051087, GO:0051082, GO:0046872, GO:0031072, GO:0005524, GO:0005515, GO:0001671, chaperone binding, unfolded protein binding, metal ion binding, heat shock protein binding, ATP binding, protein binding, ATPase activator activity, GO:0042026, GO:0032781, GO:0009408, GO:0008284, protein refolding, positive regulation of ATPase activity, response to heat, positive regulation of cell population proliferation, 1101 742 1227 339 344 405 324 284 273 ENSG00000069399 chr19 44747705 44760044 + BCL3 protein_coding This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]. 602 GO:0048471, GO:0043231, GO:0033257, GO:0032996, GO:0032991, GO:0030496, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, Bcl3/NF-kappaB2 complex, Bcl3-Bcl10 complex, protein-containing complex, midbody, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0030674, GO:0008134, GO:0005515, protein-macromolecule adaptor activity, transcription factor binding, protein binding, GO:1901222, GO:0051457, GO:0051101, GO:0046426, GO:0045893, GO:0045892, GO:0045727, GO:0043066, GO:0042981, GO:0042771, GO:0032717, GO:0030330, GO:0010225, GO:0009615, GO:0007249, GO:0006974, GO:0006351, regulation of NIK/NF-kappaB signaling, maintenance of protein location in nucleus, regulation of DNA binding, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of translation, negative regulation of apoptotic process, regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, negative regulation of interleukin-8 production, DNA damage response, signal transduction by p53 class mediator, response to UV-C, response to virus, I-kappaB kinase/NF-kappaB signaling, cellular response to DNA damage stimulus, transcription, DNA-templated, 3372 3338 7396 1557 2517 4662 2445 2145 4868 ENSG00000069424 chr1 5991466 6101193 + KCNAB2 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]. 8514 GO:1990031, GO:0070821, GO:0044224, GO:0044224, GO:0044224, GO:0043679, GO:0035579, GO:0031234, GO:0031234, GO:0016020, GO:0014069, GO:0008076, GO:0008076, GO:0005886, GO:0005874, GO:0005829, pinceau fiber, tertiary granule membrane, juxtaparanode region of axon, juxtaparanode region of axon, juxtaparanode region of axon, axon terminus, specific granule membrane, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, membrane, postsynaptic density, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, microtubule, cytosol, GO:0044325, GO:0015459, GO:0015459, GO:0005515, GO:0005249, GO:0004033, GO:0004033, ion channel binding, potassium channel regulator activity, potassium channel regulator activity, protein binding, voltage-gated potassium channel activity, aldo-keto reductase (NADP) activity, aldo-keto reductase (NADP) activity, GO:2000008, GO:1901379, GO:1901379, GO:0098900, GO:0071805, GO:0070995, GO:0055114, GO:0055114, GO:0050905, GO:0043312, GO:0002244, regulation of protein localization to cell surface, regulation of potassium ion transmembrane transport, regulation of potassium ion transmembrane transport, regulation of action potential, potassium ion transmembrane transport, NADPH oxidation, oxidation-reduction process, oxidation-reduction process, neuromuscular process, neutrophil degranulation, hematopoietic progenitor cell differentiation, 904 1123 1314 1180 1481 1714 1115 1151 1385 ENSG00000069431 chr12 21797401 21942529 - ABCC9 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]. 10060 GO:0031004, GO:0030017, GO:0016020, GO:0008282, GO:0008282, GO:0005886, potassium ion-transporting ATPase complex, sarcomere, membrane, inward rectifying potassium channel, inward rectifying potassium channel, plasma membrane, GO:0044325, GO:0042626, GO:0022857, GO:0019829, GO:0016887, GO:0015459, GO:0015272, GO:0008281, GO:0005524, GO:0005267, GO:0005261, ion channel binding, ATPase-coupled transmembrane transporter activity, transmembrane transporter activity, ATPase-coupled cation transmembrane transporter activity, ATPase activity, potassium channel regulator activity, ATP-activated inward rectifier potassium channel activity, sulfonylurea receptor activity, ATP binding, potassium channel activity, cation channel activity, GO:1990573, GO:1903779, GO:0150104, GO:0098662, GO:0098655, GO:0071805, GO:0071805, GO:0061337, GO:0055085, GO:0055085, GO:0051607, GO:0033198, GO:0033198, potassium ion import across plasma membrane, regulation of cardiac conduction, transport across blood-brain barrier, inorganic cation transmembrane transport, cation transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, cardiac conduction, transmembrane transport, transmembrane transport, defense response to virus, response to ATP, response to ATP, 0 0 2 0 0 0 0 0 0 ENSG00000069482 chr11 68683779 68691175 + GAL protein_coding This gene encodes a neuroendocrine peptide that is widely expressed in the central and peripheral nervous systems and also the gastrointestinal tract, pancreas, adrenal gland and urogenital tract. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Galanin has diverse physiological functions including nociception, feeding and energy homeostasis, osmotic regulation and water balance. GMAP has been demonstrated to possess antifungal activity and hypothesized to be part of the innate immune system. [provided by RefSeq, Jul 2015]. 51083 GO:0043025, GO:0030141, GO:0005794, GO:0005615, GO:0005615, GO:0005576, neuronal cell body, secretory granule, Golgi apparatus, extracellular space, extracellular space, extracellular region, GO:0031766, GO:0031765, GO:0031764, GO:0031763, GO:0005515, GO:0005184, GO:0005184, GO:0005184, GO:0004966, type 3 galanin receptor binding, type 2 galanin receptor binding, type 1 galanin receptor binding, galanin receptor binding, protein binding, neuropeptide hormone activity, neuropeptide hormone activity, neuropeptide hormone activity, galanin receptor activity, GO:1902608, GO:0051795, GO:0051464, GO:0050672, GO:0045944, GO:0043627, GO:0043065, GO:0042493, GO:0035902, GO:0032868, GO:0031943, GO:0030073, GO:0019933, GO:0010737, GO:0007631, GO:0007399, GO:0007218, GO:0007186, GO:0006954, positive regulation of large conductance calcium-activated potassium channel activity, positive regulation of timing of catagen, positive regulation of cortisol secretion, negative regulation of lymphocyte proliferation, positive regulation of transcription by RNA polymerase II, response to estrogen, positive regulation of apoptotic process, response to drug, response to immobilization stress, response to insulin, regulation of glucocorticoid metabolic process, insulin secretion, cAMP-mediated signaling, protein kinase A signaling, feeding behavior, nervous system development, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000069493 chr12 9664969 9699555 + CLEC2D protein_coding This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Oct 2010]. 29121 GO:0016020, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005783, membrane, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:0046703, GO:0030246, GO:0004888, natural killer cell lectin-like receptor binding, carbohydrate binding, transmembrane signaling receptor activity, GO:0050776, GO:0007166, regulation of immune response, cell surface receptor signaling pathway, 299 234 529 470 314 741 452 204 550 ENSG00000069509 chrX 44523639 44543001 - FUNDC1 protein_coding This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011]. 139341 GO:0031307, GO:0031307, GO:0005741, GO:0005741, integral component of mitochondrial outer membrane, integral component of mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, GO:0005515, protein binding, GO:0016236, GO:0010243, GO:0001666, GO:0001666, GO:0000422, GO:0000422, GO:0000422, GO:0000422, macroautophagy, response to organonitrogen compound, response to hypoxia, response to hypoxia, autophagy of mitochondrion, autophagy of mitochondrion, autophagy of mitochondrion, autophagy of mitochondrion, 45 42 30 16 19 14 35 42 24 ENSG00000069535 chrX 43766611 43882447 - MAOB protein_coding The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]. 4129 GO:0016021, GO:0005741, GO:0005740, GO:0005739, integral component of membrane, mitochondrial outer membrane, mitochondrial envelope, mitochondrion, GO:0050660, GO:0042802, GO:0009055, GO:0008131, GO:0005515, flavin adenine dinucleotide binding, identical protein binding, electron transfer activity, primary amine oxidase activity, protein binding, GO:0051412, GO:0050665, GO:0045964, GO:0045471, GO:0042493, GO:0042420, GO:0042135, GO:0032496, GO:0022900, GO:0021762, GO:0014063, GO:0010269, GO:0010044, GO:0009636, response to corticosterone, hydrogen peroxide biosynthetic process, positive regulation of dopamine metabolic process, response to ethanol, response to drug, dopamine catabolic process, neurotransmitter catabolic process, response to lipopolysaccharide, electron transport chain, substantia nigra development, negative regulation of serotonin secretion, response to selenium ion, response to aluminum ion, response to toxic substance, 0 0 0 0 0 0 0 0 0 ENSG00000069667 chr15 60488284 61229319 - RORA protein_coding The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]. 6095 GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, chromatin, GO:0098531, GO:0043565, GO:0008270, GO:0008142, GO:0008142, GO:0008134, GO:0008013, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0003677, GO:0001223, GO:0001222, GO:0000981, GO:0000978, GO:0000978, GO:0000977, ligand-activated transcription factor activity, sequence-specific DNA binding, zinc ion binding, oxysterol binding, oxysterol binding, transcription factor binding, beta-catenin binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA binding, transcription coactivator binding, transcription corepressor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0072539, GO:0071456, GO:0071356, GO:0071347, GO:0070328, GO:0050728, GO:0050728, GO:0046068, GO:0045944, GO:0045893, GO:0045599, GO:0043124, GO:0043030, GO:0042753, GO:0042692, GO:0042632, GO:0036315, GO:0036315, GO:0032922, GO:0030522, GO:0021930, GO:0021702, GO:0019221, GO:0019218, GO:0010906, GO:0010575, GO:0008589, GO:0006809, GO:0006805, GO:0006367, GO:0006357, GO:0006355, GO:0001525, T-helper 17 cell differentiation, cellular response to hypoxia, cellular response to tumor necrosis factor, cellular response to interleukin-1, triglyceride homeostasis, negative regulation of inflammatory response, negative regulation of inflammatory response, cGMP metabolic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of fat cell differentiation, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of macrophage activation, positive regulation of circadian rhythm, muscle cell differentiation, cholesterol homeostasis, cellular response to sterol, cellular response to sterol, circadian regulation of gene expression, intracellular receptor signaling pathway, cerebellar granule cell precursor proliferation, cerebellar Purkinje cell differentiation, cytokine-mediated signaling pathway, regulation of steroid metabolic process, regulation of glucose metabolic process, positive regulation of vascular endothelial growth factor production, regulation of smoothened signaling pathway, nitric oxide biosynthetic process, xenobiotic metabolic process, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, angiogenesis, 341 238 703 661 154 772 588 102 432 ENSG00000069696 chr11 637293 640706 + DRD4 protein_coding This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]. 1815 GO:0098978, GO:0098794, GO:0030425, GO:0016020, GO:0005887, GO:0005887, GO:0005886, GO:0005886, glutamatergic synapse, postsynapse, dendrite, membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0051380, GO:0051379, GO:0046872, GO:0042802, GO:0035240, GO:0030594, GO:0017124, GO:0015459, GO:0008144, GO:0005515, GO:0004993, GO:0004952, GO:0001591, GO:0001591, GO:0001591, norepinephrine binding, epinephrine binding, metal ion binding, identical protein binding, dopamine binding, neurotransmitter receptor activity, SH3 domain binding, potassium channel regulator activity, drug binding, protein binding, G protein-coupled serotonin receptor activity, dopamine neurotransmitter receptor activity, dopamine neurotransmitter receptor activity, coupled via Gi/Go, dopamine neurotransmitter receptor activity, coupled via Gi/Go, dopamine neurotransmitter receptor activity, coupled via Gi/Go, GO:1901386, GO:0099149, GO:0098664, GO:0060080, GO:0051586, GO:0050709, GO:0050482, GO:0048511, GO:0048149, GO:0048148, GO:0042752, GO:0042596, GO:0042417, GO:0042053, GO:0035176, GO:0034776, GO:0033674, GO:0032417, GO:0008344, GO:0007268, GO:0007212, GO:0007195, GO:0007195, GO:0007187, GO:0007186, GO:0006874, GO:0001975, GO:0001963, GO:0001662, GO:0000187, negative regulation of voltage-gated calcium channel activity, regulation of postsynaptic neurotransmitter receptor internalization, G protein-coupled serotonin receptor signaling pathway, inhibitory postsynaptic potential, positive regulation of dopamine uptake involved in synaptic transmission, negative regulation of protein secretion, arachidonic acid secretion, rhythmic process, behavioral response to ethanol, behavioral response to cocaine, regulation of circadian rhythm, fear response, dopamine metabolic process, regulation of dopamine metabolic process, social behavior, response to histamine, positive regulation of kinase activity, positive regulation of sodium:proton antiporter activity, adult locomotory behavior, chemical synaptic transmission, dopamine receptor signaling pathway, adenylate cyclase-inhibiting dopamine receptor signaling pathway, adenylate cyclase-inhibiting dopamine receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cellular calcium ion homeostasis, response to amphetamine, synaptic transmission, dopaminergic, behavioral fear response, activation of MAPK activity, 0 2 0 0 1 0 0 0 0 ENSG00000069702 chr1 91680343 91906335 - TGFBR3 protein_coding This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]. 7049 GO:0070062, GO:0043235, GO:0034673, GO:0031012, GO:0009986, GO:0009986, GO:0009897, GO:0005887, GO:0005737, GO:0005615, GO:0005615, GO:0005615, extracellular exosome, receptor complex, inhibin-betaglycan-ActRII complex, extracellular matrix, cell surface, cell surface, external side of plasma membrane, integral component of plasma membrane, cytoplasm, extracellular space, extracellular space, extracellular space, GO:0070123, GO:0050431, GO:0050431, GO:0050431, GO:0048185, GO:0046332, GO:0030165, GO:0017134, GO:0015026, GO:0008201, GO:0005539, GO:0005539, GO:0005539, GO:0005515, GO:0005515, GO:0005160, GO:0005114, GO:0005114, GO:0005024, GO:0005024, transforming growth factor beta receptor activity, type III, transforming growth factor beta binding, transforming growth factor beta binding, transforming growth factor beta binding, activin binding, SMAD binding, PDZ domain binding, fibroblast growth factor binding, coreceptor activity, heparin binding, glycosaminoglycan binding, glycosaminoglycan binding, glycosaminoglycan binding, protein binding, protein binding, transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, transforming growth factor beta-activated receptor activity, transforming growth factor beta-activated receptor activity, GO:0070372, GO:0062009, GO:0061384, GO:0060979, GO:0060939, GO:0060412, GO:0060389, GO:0060347, GO:0060318, GO:0060317, GO:0060216, GO:0060045, GO:0060038, GO:0055010, GO:0051271, GO:0050680, GO:0046328, GO:0043393, GO:0035556, GO:0034699, GO:0034695, GO:0032354, GO:0031100, GO:0030512, GO:0030511, GO:0030509, GO:0017015, GO:0016477, GO:0016477, GO:0007181, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0006955, GO:0003223, GO:0003151, GO:0003150, GO:0003007, GO:0001889, GO:0001837, GO:0001837, GO:0001666, GO:0001570, GO:0001525, regulation of ERK1 and ERK2 cascade, secondary palate development, heart trabecula morphogenesis, vasculogenesis involved in coronary vascular morphogenesis, epicardium-derived cardiac fibroblast cell development, ventricular septum morphogenesis, pathway-restricted SMAD protein phosphorylation, heart trabecula formation, definitive erythrocyte differentiation, cardiac epithelial to mesenchymal transition, definitive hemopoiesis, positive regulation of cardiac muscle cell proliferation, cardiac muscle cell proliferation, ventricular cardiac muscle tissue morphogenesis, negative regulation of cellular component movement, negative regulation of epithelial cell proliferation, regulation of JNK cascade, regulation of protein binding, intracellular signal transduction, response to luteinizing hormone, response to prostaglandin E, response to follicle-stimulating hormone, animal organ regeneration, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, regulation of transforming growth factor beta receptor signaling pathway, cell migration, cell migration, transforming growth factor beta receptor complex assembly, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, immune response, ventricular compact myocardium morphogenesis, outflow tract morphogenesis, muscular septum morphogenesis, heart morphogenesis, liver development, epithelial to mesenchymal transition, epithelial to mesenchymal transition, response to hypoxia, vasculogenesis, angiogenesis, 73 60 237 155 47 354 166 66 219 ENSG00000069764 chr16 14672545 14694669 - PLA2G10 protein_coding This gene encodes a member of the phospholipase A2 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This calcium-dependent enzyme hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids. In one example, this enzyme catalyzes the release of arachidonic acid from cell membrane phospholipids, thus playing a role in the production of various inflammatory lipid mediators, such as prostaglandins. The encoded protein may promote the survival of breast cancer cells through its role in lipid metabolism. [provided by RefSeq, Nov 2015]. 8399 GO:0005764, GO:0005615, GO:0005576, GO:0001669, lysosome, extracellular space, extracellular region, acrosomal vesicle, GO:0102568, GO:0102567, GO:0047498, GO:0047498, GO:0005543, GO:0005515, GO:0005509, GO:0004620, GO:0003847, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, phospholipid binding, protein binding, calcium ion binding, phospholipase activity, 1-alkyl-2-acetylglycerophosphocholine esterase activity, GO:2000344, GO:1990830, GO:1900016, GO:0090370, GO:0090238, GO:0062234, GO:0051977, GO:0051607, GO:0050482, GO:0046473, GO:0046471, GO:0046470, GO:0046337, GO:0043433, GO:0043433, GO:0043249, GO:0043030, GO:0042632, GO:0042116, GO:0036335, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0034638, GO:0034374, GO:0032308, GO:0032270, GO:0031069, GO:0019369, GO:0010884, GO:0010744, GO:0009566, GO:0007411, GO:0006658, GO:0006654, GO:0006644, GO:0002532, GO:0001516, positive regulation of acrosome reaction, cellular response to leukemia inhibitory factor, negative regulation of cytokine production involved in inflammatory response, negative regulation of cholesterol efflux, positive regulation of arachidonic acid secretion, platelet activating factor catabolic process, lysophospholipid transport, defense response to virus, arachidonic acid secretion, phosphatidic acid metabolic process, phosphatidylglycerol metabolic process, phosphatidylcholine metabolic process, phosphatidylethanolamine metabolic process, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA-binding transcription factor activity, erythrocyte maturation, regulation of macrophage activation, cholesterol homeostasis, macrophage activation, intestinal stem cell homeostasis, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, phosphatidylcholine catabolic process, low-density lipoprotein particle remodeling, positive regulation of prostaglandin secretion, positive regulation of cellular protein metabolic process, hair follicle morphogenesis, arachidonic acid metabolic process, positive regulation of lipid storage, positive regulation of macrophage derived foam cell differentiation, fertilization, axon guidance, phosphatidylserine metabolic process, phosphatidic acid biosynthetic process, phospholipid metabolic process, production of molecular mediator involved in inflammatory response, prostaglandin biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000069812 chr1 6412418 6424670 - HES2 protein_coding 54626 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046983, GO:0008134, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, transcription factor binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050767, GO:0009952, GO:0006357, GO:0000122, regulation of neurogenesis, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000069849 chr3 141876124 141926514 + ATP1B3 protein_coding The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]. 483 GO:0070062, GO:0042470, GO:0036126, GO:0005901, GO:0005890, GO:0005890, GO:0005890, GO:0005886, GO:0005886, extracellular exosome, melanosome, sperm flagellum, caveola, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, plasma membrane, plasma membrane, GO:0051117, GO:0019829, GO:0005515, GO:0005391, GO:0005391, GO:0005391, GO:0005391, GO:0001671, GO:0001671, ATPase binding, ATPase-coupled cation transmembrane transporter activity, protein binding, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, ATPase activator activity, ATPase activator activity, GO:1990573, GO:1990573, GO:1903779, GO:1903288, GO:1903278, GO:1901018, GO:0086009, GO:0072659, GO:0071805, GO:0050900, GO:0050821, GO:0036376, GO:0036376, GO:0035725, GO:0034220, GO:0032781, GO:0030007, GO:0030007, GO:0010248, GO:0006883, GO:0006883, potassium ion import across plasma membrane, potassium ion import across plasma membrane, regulation of cardiac conduction, positive regulation of potassium ion import across plasma membrane, positive regulation of sodium ion export across plasma membrane, positive regulation of potassium ion transmembrane transporter activity, membrane repolarization, protein localization to plasma membrane, potassium ion transmembrane transport, leukocyte migration, protein stabilization, sodium ion export across plasma membrane, sodium ion export across plasma membrane, sodium ion transmembrane transport, ion transmembrane transport, positive regulation of ATPase activity, cellular potassium ion homeostasis, cellular potassium ion homeostasis, establishment or maintenance of transmembrane electrochemical gradient, cellular sodium ion homeostasis, cellular sodium ion homeostasis, 114 84 176 193 96 168 178 81 151 ENSG00000069869 chr15 55826922 55993746 - NEDD4 protein_coding This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]. 4734 GO:0070062, GO:0048471, GO:0043197, GO:0016327, GO:0005938, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0000785, GO:0000151, extracellular exosome, perinuclear region of cytoplasm, dendritic spine, apicolateral plasma membrane, cell cortex, plasma membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, chromatin, ubiquitin ligase complex, GO:0070064, GO:0070064, GO:0070063, GO:0061630, GO:0061630, GO:0050816, GO:0050815, GO:0043130, GO:0031698, GO:0019904, GO:0019899, GO:0019871, GO:0019871, GO:0005515, proline-rich region binding, proline-rich region binding, RNA polymerase binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, phosphothreonine residue binding, phosphoserine residue binding, ubiquitin binding, beta-2 adrenergic receptor binding, protein domain specific binding, enzyme binding, sodium channel inhibitor activity, sodium channel inhibitor activity, protein binding, GO:2000650, GO:2000650, GO:1901016, GO:0070534, GO:0051592, GO:0050847, GO:0050807, GO:0048814, GO:0048814, GO:0046824, GO:0046755, GO:0045732, GO:0045732, GO:0044111, GO:0043162, GO:0043161, GO:0042921, GO:0042391, GO:0034765, GO:0034644, GO:0032801, GO:0032801, GO:0031623, GO:0031623, GO:0031175, GO:0031175, GO:0030948, GO:0016567, GO:0016567, GO:0016241, GO:0014068, GO:0010768, GO:0010766, GO:0007528, GO:0007041, GO:0006511, GO:0006511, GO:0000209, negative regulation of sodium ion transmembrane transporter activity, negative regulation of sodium ion transmembrane transporter activity, regulation of potassium ion transmembrane transporter activity, protein K63-linked ubiquitination, response to calcium ion, progesterone receptor signaling pathway, regulation of synapse organization, regulation of dendrite morphogenesis, regulation of dendrite morphogenesis, positive regulation of nucleocytoplasmic transport, viral budding, positive regulation of protein catabolic process, positive regulation of protein catabolic process, development involved in symbiotic interaction, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, proteasome-mediated ubiquitin-dependent protein catabolic process, glucocorticoid receptor signaling pathway, regulation of membrane potential, regulation of ion transmembrane transport, cellular response to UV, receptor catabolic process, receptor catabolic process, receptor internalization, receptor internalization, neuron projection development, neuron projection development, negative regulation of vascular endothelial growth factor receptor signaling pathway, protein ubiquitination, protein ubiquitination, regulation of macroautophagy, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage, negative regulation of sodium ion transport, neuromuscular junction development, lysosomal transport, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 146 26 137 60 48 53 101 41 68 ENSG00000069943 chr15 55318960 55355648 + PIGB protein_coding This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]. 9488 GO:0016021, GO:0005789, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0004376, GO:0000030, GO:0000030, GO:0000026, glycolipid mannosyltransferase activity, mannosyltransferase activity, mannosyltransferase activity, alpha-1,2-mannosyltransferase activity, GO:0097502, GO:0016254, GO:0006506, GO:0006506, mannosylation, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 710 895 593 727 1185 736 721 887 737 ENSG00000069956 chr15 51952106 52067372 + MAPK6 protein_coding The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]. 5597 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005524, GO:0005515, GO:0004707, GO:0004707, GO:0004674, ATP binding, protein binding, MAP kinase activity, MAP kinase activity, protein serine/threonine kinase activity, GO:0035556, GO:0010468, GO:0007165, GO:0007049, GO:0006468, GO:0000165, intracellular signal transduction, regulation of gene expression, signal transduction, cell cycle, protein phosphorylation, MAPK cascade, 483 422 775 544 473 839 652 300 576 ENSG00000069966 chr15 52115105 52191369 - GNB5 protein_coding Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]. 10681 GO:1902773, GO:0005834, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GTPase activator complex, heterotrimeric G-protein complex, cytosol, cytosol, cytoplasm, nucleus, GO:0051087, GO:0031682, GO:0031682, GO:0005515, GO:0005096, GO:0005096, GO:0005096, GO:0003924, chaperone binding, G-protein gamma-subunit binding, G-protein gamma-subunit binding, protein binding, GTPase activator activity, GTPase activator activity, GTPase activator activity, GTPase activity, GO:1901386, GO:0043547, GO:0043547, GO:0007212, GO:0007212, GO:0007186, GO:0007165, GO:0006457, negative regulation of voltage-gated calcium channel activity, positive regulation of GTPase activity, positive regulation of GTPase activity, dopamine receptor signaling pathway, dopamine receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, protein folding, 22 24 41 93 18 74 65 19 80 ENSG00000069974 chr15 55202966 55319113 - RAB27A protein_coding The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 5873 GO:0070382, GO:0070062, GO:0042470, GO:0042470, GO:0035580, GO:0033162, GO:0033093, GO:0032585, GO:0030667, GO:0030425, GO:0030141, GO:0016324, GO:0005829, GO:0005794, GO:0005770, GO:0005764, GO:0005576, GO:0001750, exocytic vesicle, extracellular exosome, melanosome, melanosome, specific granule lumen, melanosome membrane, Weibel-Palade body, multivesicular body membrane, secretory granule membrane, dendrite, secretory granule, apical plasma membrane, cytosol, Golgi apparatus, late endosome, lysosome, extracellular region, photoreceptor outer segment, GO:0031489, GO:0019904, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, myosin V binding, protein domain specific binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:1990182, GO:1903435, GO:1903428, GO:1903307, GO:1903307, GO:0097278, GO:0071985, GO:0050766, GO:0048489, GO:0045921, GO:0045921, GO:0043320, GO:0043316, GO:0043312, GO:0036257, GO:0032402, GO:0032402, GO:0032400, GO:0030318, GO:0019882, GO:0010628, GO:0007596, GO:0006887, GO:0006605, exosomal secretion, positive regulation of constitutive secretory pathway, positive regulation of reactive oxygen species biosynthetic process, positive regulation of regulated secretory pathway, positive regulation of regulated secretory pathway, complement-dependent cytotoxicity, multivesicular body sorting pathway, positive regulation of phagocytosis, synaptic vesicle transport, positive regulation of exocytosis, positive regulation of exocytosis, natural killer cell degranulation, cytotoxic T cell degranulation, neutrophil degranulation, multivesicular body organization, melanosome transport, melanosome transport, melanosome localization, melanocyte differentiation, antigen processing and presentation, positive regulation of gene expression, blood coagulation, exocytosis, protein targeting, 1647 1721 2370 535 1029 859 692 948 764 ENSG00000069998 chr22 17137511 17165287 - HDHD5 protein_coding 27440 GO:0005739, mitochondrion, GO:0046474, glycerophospholipid biosynthetic process, 21 25 21 46 24 40 33 18 33 ENSG00000070010 chr22 19449910 19479215 - UFD1 protein_coding The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]. 7353 GO:0036501, GO:0034098, GO:0034098, GO:0034098, GO:0005829, GO:0005654, GO:0005634, UFD1-NPL4 complex, VCP-NPL4-UFD1 AAA ATPase complex, VCP-NPL4-UFD1 AAA ATPase complex, VCP-NPL4-UFD1 AAA ATPase complex, cytosol, nucleoplasm, nucleus, GO:0051117, GO:0044877, GO:0036435, GO:0031593, GO:0005515, GO:0005102, GO:0004843, ATPase binding, protein-containing complex binding, K48-linked polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, protein binding, signaling receptor binding, thiol-dependent ubiquitin-specific protease activity, GO:0071712, GO:0071712, GO:0070987, GO:0039536, GO:0032480, GO:0030970, GO:0030433, GO:0016579, GO:0006511, GO:0001501, ER-associated misfolded protein catabolic process, ER-associated misfolded protein catabolic process, error-free translesion synthesis, negative regulation of RIG-I signaling pathway, negative regulation of type I interferon production, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, protein deubiquitination, ubiquitin-dependent protein catabolic process, skeletal system development, 763 722 1014 657 932 916 661 679 792 ENSG00000070018 chr12 12116025 12267012 - LRP6 protein_coding This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]. 4040 GO:1990909, GO:1990909, GO:1990851, GO:1990851, GO:1990851, GO:0045202, GO:0043025, GO:0031901, GO:0031410, GO:0016021, GO:0009986, GO:0009986, GO:0005901, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005769, GO:0005576, Wnt signalosome, Wnt signalosome, Wnt-Frizzled-LRP5/6 complex, Wnt-Frizzled-LRP5/6 complex, Wnt-Frizzled-LRP5/6 complex, synapse, neuronal cell body, early endosome membrane, cytoplasmic vesicle, integral component of membrane, cell surface, cell surface, caveola, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, early endosome, extracellular region, GO:1904928, GO:0071936, GO:0042813, GO:0042803, GO:0042802, GO:0034185, GO:0019534, GO:0019534, GO:0019210, GO:0017147, GO:0017147, GO:0015026, GO:0005515, GO:0005109, GO:0005102, GO:0005041, GO:0005041, coreceptor activity involved in canonical Wnt signaling pathway, coreceptor activity involved in Wnt signaling pathway, Wnt-activated receptor activity, protein homodimerization activity, identical protein binding, apolipoprotein binding, toxin transmembrane transporter activity, toxin transmembrane transporter activity, kinase inhibitor activity, Wnt-protein binding, Wnt-protein binding, coreceptor activity, protein binding, frizzled binding, signaling receptor binding, low-density lipoprotein particle receptor activity, low-density lipoprotein particle receptor activity, GO:1904953, GO:1904948, GO:1904886, GO:1901998, GO:0090245, GO:0090244, GO:0090118, GO:0090090, GO:0090009, GO:0072659, GO:0071901, GO:0071542, GO:0071397, GO:0060535, GO:0060444, GO:0060349, GO:0060325, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0060059, GO:0060026, GO:0060021, GO:0051091, GO:0051091, GO:0048596, GO:0046849, GO:0045944, GO:0045944, GO:0045893, GO:0045787, GO:0044340, GO:0044335, GO:0042475, GO:0035261, GO:0034392, GO:0030917, GO:0030901, GO:0030326, GO:0030278, GO:0021987, GO:0021794, GO:0021587, GO:0016055, GO:0014033, GO:0014033, GO:0014029, GO:0014029, GO:0009880, GO:0007268, GO:0006469, GO:0003344, GO:0001933, GO:0001843, Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, midbrain dopaminergic neuron differentiation, beta-catenin destruction complex disassembly, toxin transport, axis elongation involved in somitogenesis, Wnt signaling pathway involved in somitogenesis, receptor-mediated endocytosis involved in cholesterol transport, negative regulation of canonical Wnt signaling pathway, primitive streak formation, protein localization to plasma membrane, negative regulation of protein serine/threonine kinase activity, dopaminergic neuron differentiation, cellular response to cholesterol, trachea cartilage morphogenesis, branching involved in mammary gland duct morphogenesis, bone morphogenesis, face morphogenesis, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, embryonic retina morphogenesis in camera-type eye, convergent extension, roof of mouth development, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, embryonic camera-type eye morphogenesis, bone remodeling, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of cell cycle, canonical Wnt signaling pathway involved in regulation of cell proliferation, canonical Wnt signaling pathway involved in neural crest cell differentiation, odontogenesis of dentin-containing tooth, external genitalia morphogenesis, negative regulation of smooth muscle cell apoptotic process, midbrain-hindbrain boundary development, midbrain development, embryonic limb morphogenesis, regulation of ossification, cerebral cortex development, thalamus development, cerebellum morphogenesis, Wnt signaling pathway, neural crest cell differentiation, neural crest cell differentiation, neural crest formation, neural crest formation, embryonic pattern specification, chemical synaptic transmission, negative regulation of protein kinase activity, pericardium morphogenesis, negative regulation of protein phosphorylation, neural tube closure, 25 29 19 38 64 29 34 28 18 ENSG00000070019 chr12 14612632 14696585 - GUCY2C protein_coding This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]. 2984 GO:0016021, GO:0005886, GO:0005886, GO:0005789, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0017046, GO:0016941, GO:0015643, GO:0005525, GO:0005524, GO:0005515, GO:0004672, GO:0004383, GO:0001653, peptide hormone binding, natriuretic peptide receptor activity, toxic substance binding, GTP binding, ATP binding, protein binding, protein kinase activity, guanylate cyclase activity, peptide receptor activity, GO:0042127, GO:0035556, GO:0009636, GO:0007586, GO:0007168, GO:0007165, GO:0006468, GO:0006182, regulation of cell population proliferation, intracellular signal transduction, response to toxic substance, digestion, receptor guanylyl cyclase signaling pathway, signal transduction, protein phosphorylation, cGMP biosynthetic process, 46 34 46 24 17 38 29 29 16 ENSG00000070031 chr11 626431 627143 - SCT protein_coding This gene encodes a member of the glucagon family of peptides. The encoded preproprotein is secreted by endocrine S cells in the proximal small intestinal mucosa as a prohormone, then proteolytically processed to generate the mature peptide hormone. The release of this active peptide hormone is stimulated by either fatty acids or acidic pH in the duodenum. This hormone stimulates the secretion of bile and bicarbonate in the duodenum, pancreatic and biliary ducts. [provided by RefSeq, Feb 2016]. 6343 GO:0005615, GO:0005615, GO:0005576, GO:0005575, extracellular space, extracellular space, extracellular region, cellular_component, GO:0047485, GO:0046659, GO:0005515, GO:0005179, GO:0005179, GO:0005102, GO:0001664, protein N-terminus binding, digestive hormone activity, protein binding, hormone activity, hormone activity, signaling receptor binding, G protein-coupled receptor binding, GO:1903640, GO:0090274, GO:0090187, GO:0050996, GO:0048566, GO:0048167, GO:0043950, GO:0032098, GO:0031667, GO:0030157, GO:0021766, GO:0009992, GO:0007420, GO:0007186, GO:0002024, negative regulation of gastrin-induced gastric acid secretion, positive regulation of somatostatin secretion, positive regulation of pancreatic juice secretion, positive regulation of lipid catabolic process, embryonic digestive tract development, regulation of synaptic plasticity, positive regulation of cAMP-mediated signaling, regulation of appetite, response to nutrient levels, pancreatic juice secretion, hippocampus development, cellular water homeostasis, brain development, G protein-coupled receptor signaling pathway, diet induced thermogenesis, 0 0 0 1 0 0 2 0 0 ENSG00000070047 chr11 576486 612222 + PHRF1 protein_coding 57661 GO:0016020, membrane, GO:0070063, GO:0046872, GO:0019904, RNA polymerase binding, metal ion binding, protein domain specific binding, GO:0006397, GO:0006366, mRNA processing, transcription by RNA polymerase II, 3 57 58 26 27 4 17 20 3 ENSG00000070061 chr9 108867517 108934116 - ELP1 protein_coding The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 8518 GO:0033588, GO:0033588, GO:0005829, GO:0005829, GO:0005737, GO:0005634, elongator holoenzyme complex, elongator holoenzyme complex, cytosol, cytosol, cytoplasm, nucleus, GO:0005515, GO:0000049, protein binding, tRNA binding, GO:0002926, tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation, 142 135 269 205 126 247 181 96 167 ENSG00000070081 chr11 17208153 17349980 + NUCB2 protein_coding This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]. 4925 GO:0070062, GO:0005886, GO:0005829, GO:0005794, GO:0005793, GO:0005793, GO:0005783, GO:0005640, GO:0005615, extracellular exosome, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, nuclear outer membrane, extracellular space, GO:0005515, GO:0005509, GO:0005085, GO:0003677, GO:0001965, protein binding, calcium ion binding, guanyl-nucleotide exchange factor activity, DNA binding, G-protein alpha-subunit binding, GO:0032099, GO:0007264, negative regulation of appetite, small GTPase mediated signal transduction, 113 130 202 127 101 254 120 89 148 ENSG00000070087 chr3 149964904 150050788 - PFN2 protein_coding The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]. 5217 GO:0098978, GO:0098794, GO:0098685, GO:0070062, GO:0005856, GO:0005737, glutamatergic synapse, postsynapse, Schaffer collateral - CA1 synapse, extracellular exosome, cytoskeleton, cytoplasm, GO:0016887, GO:0005546, GO:0005515, GO:0003785, GO:0003779, ATPase activity, phosphatidylinositol-4,5-bisphosphate binding, protein binding, actin monomer binding, actin binding, GO:2000300, GO:1900028, GO:0051496, GO:0050821, GO:0033138, GO:0032781, GO:0032233, GO:0032233, GO:0030838, GO:0030837, GO:0030833, GO:0030036, GO:0010633, regulation of synaptic vesicle exocytosis, negative regulation of ruffle assembly, positive regulation of stress fiber assembly, protein stabilization, positive regulation of peptidyl-serine phosphorylation, positive regulation of ATPase activity, positive regulation of actin filament bundle assembly, positive regulation of actin filament bundle assembly, positive regulation of actin filament polymerization, negative regulation of actin filament polymerization, regulation of actin filament polymerization, actin cytoskeleton organization, negative regulation of epithelial cell migration, 4 9 10 10 13 17 11 8 11 ENSG00000070159 chr9 109375466 109498313 - PTPN3 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]. 5774 GO:0009898, GO:0009898, GO:0005886, GO:0005856, GO:0005737, GO:0005737, cytoplasmic side of plasma membrane, cytoplasmic side of plasma membrane, plasma membrane, cytoskeleton, cytoplasm, cytoplasm, GO:0051117, GO:0017080, GO:0008092, GO:0005515, GO:0004725, GO:0004725, GO:0004725, GO:0001784, ATPase binding, sodium channel regulator activity, cytoskeletal protein binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, phosphotyrosine residue binding, GO:2000649, GO:0098902, GO:0097421, GO:0051045, GO:0045930, GO:0042059, GO:0035335, GO:0006470, regulation of sodium ion transmembrane transporter activity, regulation of membrane depolarization during action potential, liver regeneration, negative regulation of membrane protein ectodomain proteolysis, negative regulation of mitotic cell cycle, negative regulation of epidermal growth factor receptor signaling pathway, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, 0 0 2 0 0 0 0 1 0 ENSG00000070182 chr14 64746283 64879907 - SPTB protein_coding This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]. 6710 GO:0032991, GO:0031235, GO:0015629, GO:0014731, GO:0008091, GO:0005829, GO:0005829, protein-containing complex, intrinsic component of the cytoplasmic side of the plasma membrane, actin cytoskeleton, spectrin-associated cytoskeleton, spectrin, cytosol, cytosol, GO:0051015, GO:0030506, GO:0005515, GO:0005200, GO:0003779, actin filament binding, ankyrin binding, protein binding, structural constituent of cytoskeleton, actin binding, GO:0051693, GO:0007411, GO:0007010, GO:0006888, GO:0000165, actin filament capping, axon guidance, cytoskeleton organization, endoplasmic reticulum to Golgi vesicle-mediated transport, MAPK cascade, 419 835 484 733 1585 1244 804 971 934 ENSG00000070190 chr4 99816833 99870154 + DAPP1 protein_coding 27071 GO:0005886, GO:0005886, GO:0005829, plasma membrane, plasma membrane, cytosol, GO:0043325, GO:0005547, GO:0005543, GO:0005515, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, phospholipid binding, protein binding, GO:0007165, GO:0006470, signal transduction, protein dephosphorylation, 1247 1083 2306 731 1178 973 817 909 826 ENSG00000070193 chr5 44303544 44389706 - FGF10 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]. 2255 GO:0062023, GO:0009986, GO:0009986, GO:0005886, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, cell surface, cell surface, plasma membrane, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0042056, GO:0042056, GO:0008201, GO:0008083, GO:0008083, GO:0005515, GO:0005111, GO:0005111, GO:0005104, GO:0005104, chemoattractant activity, chemoattractant activity, heparin binding, growth factor activity, growth factor activity, protein binding, type 2 fibroblast growth factor receptor binding, type 2 fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:2001240, GO:1900087, GO:0090263, GO:0071338, GO:0071157, GO:0070384, GO:0070374, GO:0070374, GO:0070371, GO:0070352, GO:0070075, GO:0061115, GO:0061033, GO:0061033, GO:0060915, GO:0060879, GO:0060667, GO:0060665, GO:0060664, GO:0060661, GO:0060615, GO:0060595, GO:0060595, GO:0060513, GO:0060510, GO:0060496, GO:0060449, GO:0060447, GO:0060436, GO:0060430, GO:0060428, GO:0060174, GO:0060173, GO:0060054, GO:0060019, GO:0051897, GO:0051549, GO:0051145, GO:0050930, GO:0050918, GO:0050918, GO:0050872, GO:0050731, GO:0050679, GO:0050679, GO:0050677, GO:0050674, GO:0050673, GO:0050671, GO:0048808, GO:0048807, GO:0048754, GO:0048557, GO:0048538, GO:0048536, GO:0048146, GO:0046877, GO:0046579, GO:0045944, GO:0045747, GO:0045739, GO:0045596, GO:0043410, GO:0042693, GO:0042475, GO:0042246, GO:0042060, GO:0042060, GO:0035019, GO:0034394, GO:0032925, GO:0032808, GO:0032781, GO:0032496, GO:0032355, GO:0031532, GO:0031076, GO:0031069, GO:0031016, GO:0030949, GO:0030916, GO:0030878, GO:0030538, GO:0030334, GO:0030154, GO:0021983, GO:0010838, GO:0010634, GO:0010634, GO:0010628, GO:0009887, GO:0009880, GO:0008589, GO:0008543, GO:0008543, GO:0008285, GO:0008284, GO:0007431, GO:0007368, GO:0003338, GO:0001974, GO:0001934, GO:0001823, GO:0001759, GO:0001656, GO:0001525, GO:0000187, GO:0000165, GO:0000132, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of G1/S transition of mitotic cell cycle, positive regulation of canonical Wnt signaling pathway, positive regulation of hair follicle cell proliferation, negative regulation of cell cycle arrest, Harderian gland development, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, positive regulation of white fat cell proliferation, tear secretion, lung proximal/distal axis specification, secretion by lung epithelial cell involved in lung growth, secretion by lung epithelial cell involved in lung growth, mesenchymal cell differentiation involved in lung development, semicircular canal fusion, branch elongation involved in salivary gland morphogenesis, regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling, epithelial cell proliferation involved in salivary gland morphogenesis, submandibular salivary gland formation, mammary gland bud formation, fibroblast growth factor receptor signaling pathway involved in mammary gland specification, fibroblast growth factor receptor signaling pathway involved in mammary gland specification, prostatic bud formation, type II pneumocyte differentiation, mesenchymal-epithelial cell signaling involved in lung development, bud elongation involved in lung branching, bud outgrowth involved in lung branching, bronchiole morphogenesis, lung saccule development, lung epithelium development, limb bud formation, limb development, positive regulation of epithelial cell proliferation involved in wound healing, radial glial cell differentiation, positive regulation of protein kinase B signaling, positive regulation of keratinocyte migration, smooth muscle cell differentiation, induction of positive chemotaxis, positive chemotaxis, positive chemotaxis, white fat cell differentiation, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of epithelial cell proliferation, positive regulation of epithelial cell proliferation, positive regulation of urothelial cell proliferation, urothelial cell proliferation, epithelial cell proliferation, positive regulation of lymphocyte proliferation, male genitalia morphogenesis, female genitalia morphogenesis, branching morphogenesis of an epithelial tube, embryonic digestive tract morphogenesis, thymus development, spleen development, positive regulation of fibroblast proliferation, regulation of saliva secretion, positive regulation of Ras protein signal transduction, positive regulation of transcription by RNA polymerase II, positive regulation of Notch signaling pathway, positive regulation of DNA repair, negative regulation of cell differentiation, positive regulation of MAPK cascade, muscle cell fate commitment, odontogenesis of dentin-containing tooth, tissue regeneration, wound healing, wound healing, somatic stem cell population maintenance, protein localization to cell surface, regulation of activin receptor signaling pathway, lacrimal gland development, positive regulation of ATPase activity, response to lipopolysaccharide, response to estradiol, actin cytoskeleton reorganization, embryonic camera-type eye development, hair follicle morphogenesis, pancreas development, positive regulation of vascular endothelial growth factor receptor signaling pathway, otic vesicle formation, thyroid gland development, embryonic genitalia morphogenesis, regulation of cell migration, cell differentiation, pituitary gland development, positive regulation of keratinocyte proliferation, positive regulation of epithelial cell migration, positive regulation of epithelial cell migration, positive regulation of gene expression, animal organ morphogenesis, embryonic pattern specification, regulation of smoothened signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, negative regulation of cell population proliferation, positive regulation of cell population proliferation, salivary gland development, determination of left/right symmetry, metanephros morphogenesis, blood vessel remodeling, positive regulation of protein phosphorylation, mesonephros development, organ induction, metanephros development, angiogenesis, activation of MAPK activity, MAPK cascade, establishment of mitotic spindle orientation, 0 0 0 0 0 0 0 0 0 ENSG00000070214 chr9 105244622 105439171 + SLC44A1 protein_coding 23446 GO:0070062, GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005741, GO:0005739, GO:0005654, extracellular exosome, integral component of membrane, membrane, membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, mitochondrial outer membrane, mitochondrion, nucleoplasm, GO:0022857, GO:0015220, GO:0015220, GO:0015220, GO:0015220, transmembrane transporter activity, choline transmembrane transporter activity, choline transmembrane transporter activity, choline transmembrane transporter activity, choline transmembrane transporter activity, GO:0150104, GO:0055085, GO:0055085, GO:0055085, GO:0055085, GO:0042426, GO:0015871, GO:0015871, GO:0015871, GO:0015871, GO:0006656, transport across blood-brain barrier, transmembrane transport, transmembrane transport, transmembrane transport, transmembrane transport, choline catabolic process, choline transport, choline transport, choline transport, choline transport, phosphatidylcholine biosynthetic process, 112 108 177 59 92 120 129 93 73 ENSG00000070269 chr14 56488354 56650606 + TMEM260 protein_coding 54916 GO:0016021, integral component of membrane, 338 202 360 369 338 406 396 227 291 ENSG00000070366 chr17 2059839 2303771 - SMG6 protein_coding This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]. 23293 GO:0035145, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005697, GO:0005697, GO:0005634, GO:0000781, exon-exon junction complex, cytosol, cytosol, cytoplasm, nucleolus, telomerase holoenzyme complex, telomerase holoenzyme complex, nucleus, chromosome, telomeric region, GO:0070182, GO:0070034, GO:0070034, GO:0046872, GO:0043021, GO:0042162, GO:0042162, GO:0005515, GO:0004521, GO:0004521, GO:0004521, GO:0003723, DNA polymerase binding, telomerase RNA binding, telomerase RNA binding, metal ion binding, ribonucleoprotein complex binding, telomeric DNA binding, telomeric DNA binding, protein binding, endoribonuclease activity, endoribonuclease activity, endoribonuclease activity, RNA binding, GO:1904354, GO:0090502, GO:0051972, GO:0035303, GO:0032210, GO:0032210, GO:0032204, GO:0006406, GO:0000184, GO:0000184, GO:0000184, negative regulation of telomere capping, RNA phosphodiester bond hydrolysis, endonucleolytic, regulation of telomerase activity, regulation of dephosphorylation, regulation of telomere maintenance via telomerase, regulation of telomere maintenance via telomerase, regulation of telomere maintenance, mRNA export from nucleus, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 239 183 329 148 126 222 143 121 179 ENSG00000070367 chr14 57200507 57269008 - EXOC5 protein_coding The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]. 10640 GO:0030496, GO:0005829, GO:0005737, GO:0000145, midbody, cytosol, cytoplasm, exocyst, GO:0047485, GO:0031267, GO:0005515, protein N-terminus binding, small GTPase binding, protein binding, GO:0072659, GO:0015031, GO:0006893, GO:0006892, GO:0006887, protein localization to plasma membrane, protein transport, Golgi to plasma membrane transport, post-Golgi vesicle-mediated transport, exocytosis, 229 220 295 210 192 221 179 155 168 ENSG00000070371 chr22 19179473 19291716 - CLTCL1 protein_coding This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. 8218 GO:0097443, GO:0071439, GO:0070062, GO:0055037, GO:0045334, GO:0045334, GO:0030136, GO:0030135, GO:0030130, GO:0016020, GO:0005905, GO:0005886, GO:0005829, GO:0005819, GO:0005802, GO:0005770, GO:0005769, sorting endosome, clathrin complex, extracellular exosome, recycling endosome, clathrin-coated endocytic vesicle, clathrin-coated endocytic vesicle, clathrin-coated vesicle, coated vesicle, clathrin coat of trans-Golgi network vesicle, membrane, clathrin-coated pit, plasma membrane, cytosol, spindle, trans-Golgi network, late endosome, early endosome, GO:0032051, GO:0005515, GO:0005198, clathrin light chain binding, protein binding, structural molecule activity, GO:0061024, GO:0046326, GO:0042147, GO:0009653, GO:0006898, GO:0006898, GO:0006886, GO:0000278, GO:0000278, membrane organization, positive regulation of glucose import, retrograde transport, endosome to Golgi, anatomical structure morphogenesis, receptor-mediated endocytosis, receptor-mediated endocytosis, intracellular protein transport, mitotic cell cycle, mitotic cell cycle, 31 35 46 38 55 40 15 32 48 ENSG00000070388 chr19 639879 644371 + FGF22 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 27006 GO:0009986, GO:0005794, GO:0005737, GO:0005730, GO:0005615, GO:0005576, cell surface, Golgi apparatus, cytoplasm, nucleolus, extracellular space, extracellular region, GO:0008083, GO:0005104, growth factor activity, fibroblast growth factor receptor binding, GO:0051897, GO:0030334, GO:0030154, GO:0030154, GO:0010628, GO:0009887, GO:0008543, GO:0008543, GO:0008284, GO:0001934, GO:0000165, positive regulation of protein kinase B signaling, regulation of cell migration, cell differentiation, cell differentiation, positive regulation of gene expression, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of protein phosphorylation, MAPK cascade, 0 1 1 0 1 0 1 2 2 ENSG00000070404 chr19 676365 683399 + FSTL3 protein_coding Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008]. 10272 GO:0044306, GO:0030141, GO:0005794, GO:0005788, GO:0005654, GO:0005634, GO:0005615, GO:0005615, GO:0005576, neuron projection terminus, secretory granule, Golgi apparatus, endoplasmic reticulum lumen, nucleoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0048185, GO:0048185, GO:0005515, GO:0001968, activin binding, activin binding, protein binding, fibronectin binding, GO:0090101, GO:0071248, GO:0045944, GO:0045671, GO:0044267, GO:0043687, GO:0032926, GO:0032926, GO:0030514, GO:0030510, GO:0030325, GO:0030324, GO:0030154, GO:0022409, GO:0008584, GO:0007283, GO:0007275, GO:0006357, GO:0002244, GO:0001822, GO:0001503, negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway, cellular response to metal ion, positive regulation of transcription by RNA polymerase II, negative regulation of osteoclast differentiation, cellular protein metabolic process, post-translational protein modification, negative regulation of activin receptor signaling pathway, negative regulation of activin receptor signaling pathway, negative regulation of BMP signaling pathway, regulation of BMP signaling pathway, adrenal gland development, lung development, cell differentiation, positive regulation of cell-cell adhesion, male gonad development, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, hematopoietic progenitor cell differentiation, kidney development, ossification, 2 12 9 15 29 6 8 27 8 ENSG00000070413 chr22 19036282 19122454 - DGCR2 protein_coding Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 9993 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0030246, carbohydrate binding, GO:0050890, GO:0009887, GO:0007155, cognition, animal organ morphogenesis, cell adhesion, 1763 2694 1815 1073 2078 1367 1306 1594 1255 ENSG00000070423 chr19 647526 663277 - RNF126 protein_coding The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]. 55658 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0061630, GO:0046872, GO:0005515, GO:0005154, ubiquitin protein ligase activity, metal ion binding, protein binding, epidermal growth factor receptor binding, GO:0071629, GO:0070936, GO:0070534, GO:0043162, GO:0043161, GO:0042147, GO:0042127, GO:0042059, GO:0006513, GO:0006511, GO:0006511, cytoplasm protein quality control by the ubiquitin-proteasome system, protein K48-linked ubiquitination, protein K63-linked ubiquitination, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, proteasome-mediated ubiquitin-dependent protein catabolic process, retrograde transport, endosome to Golgi, regulation of cell population proliferation, negative regulation of epidermal growth factor receptor signaling pathway, protein monoubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 151 141 208 219 166 288 132 179 170 ENSG00000070444 chr17 2384060 2401118 - MNT protein_coding The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008]. 4335 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:0046983, GO:0005515, GO:0003700, GO:0003682, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein dimerization activity, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001234, GO:0051726, GO:0008285, GO:0007569, GO:0007275, GO:0006366, GO:0006357, GO:0000122, GO:0000122, negative regulation of apoptotic signaling pathway, regulation of cell cycle, negative regulation of cell population proliferation, cell aging, multicellular organism development, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2046 2179 2114 1757 2567 2186 1860 1781 1587 ENSG00000070476 chr3 126437601 126475919 - ZXDC protein_coding 79364 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0070742, GO:0046872, GO:0030275, GO:0005515, GO:0003713, GO:0003712, C2H2 zinc finger domain binding, metal ion binding, LRR domain binding, protein binding, transcription coactivator activity, transcription coregulator activity, GO:0045893, GO:0045893, GO:0006357, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 676 789 1016 464 898 706 560 646 696 ENSG00000070495 chr17 76712832 76726799 - JMJD6 protein_coding This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 23210 GO:1990904, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, plasma membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106140, GO:0070815, GO:0042802, GO:0042802, GO:0038023, GO:0035515, GO:0033749, GO:0033746, GO:0032452, GO:0032452, GO:0032451, GO:0005515, GO:0005506, GO:0003727, GO:0003723, GO:0003713, P-TEFb complex binding, peptidyl-lysine 5-dioxygenase activity, identical protein binding, identical protein binding, signaling receptor activity, oxidative RNA demethylase activity, histone demethylase activity (H4-R3 specific), histone demethylase activity (H3-R2 specific), histone demethylase activity, histone demethylase activity, demethylase activity, protein binding, iron ion binding, single-stranded RNA binding, RNA binding, transcription coactivator activity, GO:0070079, GO:0070079, GO:0070078, GO:0070078, GO:0060041, GO:0051260, GO:0048821, GO:0048024, GO:0045944, GO:0045893, GO:0043654, GO:0042116, GO:0035513, GO:0033077, GO:0030324, GO:0018395, GO:0008380, GO:0007507, GO:0007166, GO:0006482, GO:0006397, GO:0002040, GO:0001822, histone H4-R3 demethylation, histone H4-R3 demethylation, histone H3-R2 demethylation, histone H3-R2 demethylation, retina development in camera-type eye, protein homooligomerization, erythrocyte development, regulation of mRNA splicing, via spliceosome, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, recognition of apoptotic cell, macrophage activation, oxidative RNA demethylation, T cell differentiation in thymus, lung development, peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine, RNA splicing, heart development, cell surface receptor signaling pathway, protein demethylation, mRNA processing, sprouting angiogenesis, kidney development, 2020 2032 2292 2878 3116 3828 2681 2131 3053 ENSG00000070501 chr8 42338454 42371808 + POLB protein_coding The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]. 5423 GO:0032991, GO:0005876, GO:0005874, GO:0005737, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, spindle microtubule, microtubule, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0019899, GO:0016829, GO:0008017, GO:0005515, GO:0003906, GO:0003887, GO:0003887, GO:0003887, GO:0003684, metal ion binding, enzyme binding, lyase activity, microtubule binding, protein binding, DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, damaged DNA binding, GO:0071897, GO:0071707, GO:0055093, GO:0051402, GO:0048872, GO:0048536, GO:0048535, GO:0045471, GO:0016579, GO:0016446, GO:0010332, GO:0008630, GO:0007568, GO:0007435, GO:0006974, GO:0006954, GO:0006303, GO:0006297, GO:0006290, GO:0006288, GO:0006287, GO:0006286, GO:0006284, GO:0006284, GO:0006284, GO:0006281, GO:0006261, DNA biosynthetic process, immunoglobulin heavy chain V-D-J recombination, response to hyperoxia, neuron apoptotic process, homeostasis of number of cells, spleen development, lymph node development, response to ethanol, protein deubiquitination, somatic hypermutation of immunoglobulin genes, response to gamma radiation, intrinsic apoptotic signaling pathway in response to DNA damage, aging, salivary gland morphogenesis, cellular response to DNA damage stimulus, inflammatory response, double-strand break repair via nonhomologous end joining, nucleotide-excision repair, DNA gap filling, pyrimidine dimer repair, base-excision repair, DNA ligation, base-excision repair, gap-filling, base-excision repair, base-free sugar-phosphate removal, base-excision repair, base-excision repair, base-excision repair, DNA repair, DNA-dependent DNA replication, 476 313 552 314 508 392 368 404 354 ENSG00000070526 chr17 76624761 76643838 - ST6GALNAC1 protein_coding Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]. 55808 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008373, GO:0001665, sialyltransferase activity, alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity, GO:0097503, GO:0009312, GO:0006486, GO:0006486, sialylation, oligosaccharide biosynthetic process, protein glycosylation, protein glycosylation, 4 1 6 5 5 11 3 1 6 ENSG00000070540 chr17 68420948 68457513 - WIPI1 protein_coding This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 55062 GO:0034045, GO:0034045, GO:0030136, GO:0019898, GO:0010008, GO:0005856, GO:0005829, GO:0005829, GO:0005802, GO:0005737, GO:0000421, GO:0000407, GO:0000139, phagophore assembly site membrane, phagophore assembly site membrane, clathrin-coated vesicle, extrinsic component of membrane, endosome membrane, cytoskeleton, cytosol, cytosol, trans-Golgi network, cytoplasm, autophagosome membrane, phagophore assembly site, Golgi membrane, GO:0080025, GO:0080025, GO:0050681, GO:0032266, GO:0032266, GO:0030331, GO:0005515, GO:0005102, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, androgen receptor binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, estrogen receptor binding, protein binding, signaling receptor binding, GO:0048203, GO:0044804, GO:0036498, GO:0034497, GO:0016236, GO:0009267, GO:0006914, GO:0006497, GO:0000422, GO:0000045, vesicle targeting, trans-Golgi to endosome, autophagy of nucleus, IRE1-mediated unfolded protein response, protein localization to phagophore assembly site, macroautophagy, cellular response to starvation, autophagy, protein lipidation, autophagy of mitochondrion, autophagosome assembly, 298 378 496 331 541 615 303 383 461 ENSG00000070601 chr9 37651000 37746904 + FRMPD1 protein_coding 22844 GO:0032991, GO:0005938, GO:0005938, GO:0005886, GO:0005886, GO:0005856, GO:0005829, protein-containing complex, cell cortex, cell cortex, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0005515, protein binding, GO:0090150, GO:0008277, establishment of protein localization to membrane, regulation of G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000070610 chr9 35736866 35749228 - GBA2 protein_coding This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]. 57704 GO:0090498, GO:0042406, GO:0019898, GO:0016021, GO:0016021, GO:0005886, GO:0005829, GO:0005790, extrinsic component of Golgi membrane, extrinsic component of endoplasmic reticulum membrane, extrinsic component of membrane, integral component of membrane, integral component of membrane, plasma membrane, cytosol, smooth endoplasmic reticulum, GO:0050295, GO:0046527, GO:0008422, GO:0008422, GO:0004348, GO:0004348, steryl-beta-glucosidase activity, glucosyltransferase activity, beta-glucosidase activity, beta-glucosidase activity, glucosylceramidase activity, glucosylceramidase activity, GO:0097035, GO:0031113, GO:0030833, GO:0030259, GO:0021954, GO:0016139, GO:0016139, GO:0008206, GO:0008206, GO:0008203, GO:0008203, GO:0007417, GO:0006687, GO:0006680, GO:0006680, GO:0005975, regulation of membrane lipid distribution, regulation of microtubule polymerization, regulation of actin filament polymerization, lipid glycosylation, central nervous system neuron development, glycoside catabolic process, glycoside catabolic process, bile acid metabolic process, bile acid metabolic process, cholesterol metabolic process, cholesterol metabolic process, central nervous system development, glycosphingolipid metabolic process, glucosylceramide catabolic process, glucosylceramide catabolic process, carbohydrate metabolic process, 1816 1583 2154 850 1195 873 1006 816 816 ENSG00000070614 chr5 150485818 150558211 + NDST1 protein_coding This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 3340 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0102140, GO:0019213, GO:0015016, GO:0005515, heparan sulfate N-deacetylase activity, deacetylase activity, [heparan sulfate]-glucosamine N-sulfotransferase activity, protein binding, GO:0060976, GO:0048703, GO:0048702, GO:0045880, GO:0043410, GO:0035904, GO:0030901, GO:0030900, GO:0030210, GO:0015014, GO:0008543, GO:0008283, GO:0007585, GO:0006954, GO:0006477, GO:0006024, GO:0003279, coronary vasculature development, embryonic viscerocranium morphogenesis, embryonic neurocranium morphogenesis, positive regulation of smoothened signaling pathway, positive regulation of MAPK cascade, aorta development, midbrain development, forebrain development, heparin biosynthetic process, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, fibroblast growth factor receptor signaling pathway, cell population proliferation, respiratory gaseous exchange by respiratory system, inflammatory response, protein sulfation, glycosaminoglycan biosynthetic process, cardiac septum development, 899 1652 2683 197 782 529 275 678 463 ENSG00000070669 chr7 97852118 97872542 - ASNS protein_coding The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]. 440 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0042802, GO:0005524, GO:0005515, GO:0004066, GO:0004066, identical protein binding, ATP binding, protein binding, asparagine synthase (glutamine-hydrolyzing) activity, asparagine synthase (glutamine-hydrolyzing) activity, GO:0070981, GO:0045931, GO:0043200, GO:0043066, GO:0042149, GO:0036499, GO:0032870, GO:0032354, GO:0031427, GO:0009636, GO:0009612, GO:0009416, GO:0008652, GO:0006541, GO:0006529, GO:0006529, GO:0006529, GO:0001889, L-asparagine biosynthetic process, positive regulation of mitotic cell cycle, response to amino acid, negative regulation of apoptotic process, cellular response to glucose starvation, PERK-mediated unfolded protein response, cellular response to hormone stimulus, response to follicle-stimulating hormone, response to methotrexate, response to toxic substance, response to mechanical stimulus, response to light stimulus, cellular amino acid biosynthetic process, glutamine metabolic process, asparagine biosynthetic process, asparagine biosynthetic process, asparagine biosynthetic process, liver development, 5 4 6 2 3 13 2 2 12 ENSG00000070718 chr8 42152946 42171673 + AP3M2 protein_coding This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]. 10947 GO:1904115, GO:0043231, GO:0031410, GO:0030659, GO:0030131, GO:0030119, GO:0005794, axon cytoplasm, intracellular membrane-bounded organelle, cytoplasmic vesicle, cytoplasmic vesicle membrane, clathrin adaptor complex, AP-type membrane coat adaptor complex, Golgi apparatus, GO:0048490, GO:0016192, GO:0008089, GO:0006897, GO:0006886, anterograde synaptic vesicle transport, vesicle-mediated transport, anterograde axonal transport, endocytosis, intracellular protein transport, 90 86 136 41 39 69 86 20 50 ENSG00000070729 chr16 57882340 57971116 - CNGB1 protein_coding In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. 1258 GO:1902495, GO:0060170, GO:0043195, GO:0030660, GO:0017071, GO:0005886, GO:0001750, GO:0000139, transmembrane transporter complex, ciliary membrane, terminal bouton, Golgi-associated vesicle membrane, intracellular cyclic nucleotide activated cation channel complex, plasma membrane, photoreceptor outer segment, Golgi membrane, GO:0044877, GO:0030553, GO:0030553, GO:0030552, GO:0015276, GO:0005515, GO:0005223, GO:0005223, GO:0005222, protein-containing complex binding, cGMP binding, cGMP binding, cAMP binding, ligand-gated ion channel activity, protein binding, intracellular cGMP-activated cation channel activity, intracellular cGMP-activated cation channel activity, intracellular cAMP-activated cation channel activity, GO:0098655, GO:0051480, GO:0050908, GO:0045494, GO:0035845, GO:0033365, GO:0022400, GO:0016056, GO:0007608, GO:0007601, GO:0006812, GO:0001895, cation transmembrane transport, regulation of cytosolic calcium ion concentration, detection of light stimulus involved in visual perception, photoreceptor cell maintenance, photoreceptor cell outer segment organization, protein localization to organelle, regulation of rhodopsin mediated signaling pathway, rhodopsin mediated signaling pathway, sensory perception of smell, visual perception, cation transport, retina homeostasis, 7 6 3 3 0 18 6 7 13 ENSG00000070731 chr17 76565379 76586956 - ST6GALNAC2 protein_coding ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]. 10610 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008373, GO:0001665, sialyltransferase activity, alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity, GO:1990743, GO:0016266, GO:0006493, GO:0006486, protein sialylation, O-glycan processing, protein O-linked glycosylation, protein glycosylation, 276 214 296 138 218 236 174 160 257 ENSG00000070748 chr10 49609095 49665104 + CHAT protein_coding This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]. 1103 GO:0098793, GO:0043005, GO:0005829, GO:0005737, GO:0005634, presynapse, neuron projection, cytosol, cytoplasm, nucleus, GO:0004102, GO:0004102, choline O-acetyltransferase activity, choline O-acetyltransferase activity, GO:0008292, GO:0007274, GO:0007269, GO:0006656, acetylcholine biosynthetic process, neuromuscular synaptic transmission, neurotransmitter secretion, phosphatidylcholine biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000070756 chr8 100685816 100722809 - PABPC1 protein_coding This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]. 26986 GO:1990904, GO:1990904, GO:1990124, GO:0071013, GO:0070062, GO:0045202, GO:0036464, GO:0031252, GO:0030425, GO:0030027, GO:0016020, GO:0010494, GO:0010494, GO:0005925, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, messenger ribonucleoprotein complex, catalytic step 2 spliceosome, extracellular exosome, synapse, cytoplasmic ribonucleoprotein granule, cell leading edge, dendrite, lamellipodium, membrane, cytoplasmic stress granule, cytoplasmic stress granule, focal adhesion, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0008494, GO:0008266, GO:0008266, GO:0008143, GO:0008143, GO:0008143, GO:0008022, GO:0005515, GO:0003730, GO:0003730, GO:0003723, GO:0003723, GO:0003723, translation activator activity, poly(U) RNA binding, poly(U) RNA binding, poly(A) binding, poly(A) binding, poly(A) binding, protein C-terminus binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, RNA binding, RNA binding, RNA binding, GO:2000623, GO:1900153, GO:0060213, GO:0048255, GO:0045727, GO:0045070, GO:0043488, GO:0031047, GO:0006413, GO:0006378, GO:0000398, GO:0000184, negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, mRNA stabilization, positive regulation of translation, positive regulation of viral genome replication, regulation of mRNA stability, gene silencing by RNA, translational initiation, mRNA polyadenylation, mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 8331 7380 11146 9048 6533 9593 8672 5256 7155 ENSG00000070759 chr1 45343883 45491166 - TESK2 protein_coding This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 10420 GO:0016604, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear body, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, GO:0004674, GO:0004672, metal ion binding, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0048041, GO:0030036, GO:0030036, GO:0018108, GO:0007283, GO:0006468, focal adhesion assembly, actin cytoskeleton organization, actin cytoskeleton organization, peptidyl-tyrosine phosphorylation, spermatogenesis, protein phosphorylation, 327 354 372 381 392 400 379 320 296 ENSG00000070761 chr16 58113588 58129450 - CFAP20 protein_coding 29105 GO:0070062, GO:0036064, GO:0036064, GO:0031514, GO:0005929, GO:0005874, GO:0005814, GO:0005737, GO:0005654, extracellular exosome, ciliary basal body, ciliary basal body, motile cilium, cilium, microtubule, centriole, cytoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:2000253, GO:2000147, GO:2000147, GO:0060296, GO:0060296, GO:0060271, GO:0060271, GO:0018095, GO:0007275, positive regulation of feeding behavior, positive regulation of cell motility, positive regulation of cell motility, regulation of cilium beat frequency involved in ciliary motility, regulation of cilium beat frequency involved in ciliary motility, cilium assembly, cilium assembly, protein polyglutamylation, multicellular organism development, 114 121 137 576 563 653 505 392 481 ENSG00000070770 chr16 58157907 58197920 - CSNK2A2 protein_coding This gene encodes the alpha', or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha', and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [provided by RefSeq, Aug 2017]. 1459 GO:0031519, GO:0031519, GO:0005956, GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0001669, GO:0000785, PcG protein complex, PcG protein complex, protein kinase CK2 complex, plasma membrane, cytosol, cytosol, nucleoplasm, nucleus, nucleus, nucleus, acrosomal vesicle, chromatin, GO:0106311, GO:0106310, GO:0047485, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, protein N-terminus binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2001234, GO:2000059, GO:1905818, GO:1905818, GO:1903955, GO:1903146, GO:1901796, GO:0097421, GO:0051726, GO:0021987, GO:0018107, GO:0018105, GO:0018105, GO:0016236, GO:0016055, GO:0007283, GO:0007049, GO:0006915, GO:0006656, GO:0006457, negative regulation of apoptotic signaling pathway, negative regulation of ubiquitin-dependent protein catabolic process, regulation of chromosome separation, regulation of chromosome separation, positive regulation of protein targeting to mitochondrion, regulation of autophagy of mitochondrion, regulation of signal transduction by p53 class mediator, liver regeneration, regulation of cell cycle, cerebral cortex development, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, macroautophagy, Wnt signaling pathway, spermatogenesis, cell cycle, apoptotic process, phosphatidylcholine biosynthetic process, protein folding, 91 87 147 138 94 175 155 67 157 ENSG00000070778 chr14 88465778 88554733 - PTPN21 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]. 11099 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0005515, GO:0004725, protein binding, protein tyrosine phosphatase activity, GO:0035335, GO:0006470, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000070785 chr1 44850522 44986722 - EIF2B3 protein_coding The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 8891 GO:0032045, GO:0005851, GO:0005851, GO:0005829, GO:0005737, guanyl-nucleotide exchange factor complex, eukaryotic translation initiation factor 2B complex, eukaryotic translation initiation factor 2B complex, cytosol, cytoplasm, GO:0008135, GO:0005515, GO:0005085, GO:0005085, GO:0003743, translation factor activity, RNA binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, translation initiation factor activity, GO:0050852, GO:0043434, GO:0021766, GO:0014003, GO:0009749, GO:0009408, GO:0009408, GO:0006413, GO:0002183, T cell receptor signaling pathway, response to peptide hormone, hippocampus development, oligodendrocyte development, response to glucose, response to heat, response to heat, translational initiation, cytoplasmic translational initiation, 4 2 17 20 6 18 24 10 14 ENSG00000070808 chr5 150219491 150290291 - CAMK2A protein_coding The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]. 815 GO:0098685, GO:0043197, GO:0043005, GO:0030666, GO:0014069, GO:0005954, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, Schaffer collateral - CA1 synapse, dendritic spine, neuron projection, endocytic vesicle membrane, postsynaptic density, calcium- and calmodulin-dependent protein kinase complex, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0046872, GO:0042803, GO:0042802, GO:0035254, GO:0016301, GO:0009931, GO:0005524, GO:0005516, GO:0005516, GO:0005515, GO:0004683, GO:0004683, GO:0004674, GO:0004674, metal ion binding, protein homodimerization activity, identical protein binding, glutamate receptor binding, kinase activity, calcium-dependent protein serine/threonine kinase activity, ATP binding, calmodulin binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2001222, GO:2000124, GO:1990443, GO:1902108, GO:1900034, GO:0099148, GO:0060996, GO:0060333, GO:0051928, GO:0051346, GO:0051092, GO:0048813, GO:0048168, GO:0046928, GO:0046777, GO:0038166, GO:0018105, GO:0010666, GO:0007223, GO:0006816, GO:0006468, GO:0006468, GO:0002931, GO:0000082, regulation of neuron migration, regulation of endocannabinoid signaling pathway, peptidyl-threonine autophosphorylation, regulation of mitochondrial membrane permeability involved in apoptotic process, regulation of cellular response to heat, regulation of synaptic vesicle docking, dendritic spine development, interferon-gamma-mediated signaling pathway, positive regulation of calcium ion transport, negative regulation of hydrolase activity, positive regulation of NF-kappaB transcription factor activity, dendrite morphogenesis, regulation of neuronal synaptic plasticity, regulation of neurotransmitter secretion, protein autophosphorylation, angiotensin-activated signaling pathway, peptidyl-serine phosphorylation, positive regulation of cardiac muscle cell apoptotic process, Wnt signaling pathway, calcium modulating pathway, calcium ion transport, protein phosphorylation, protein phosphorylation, response to ischemia, G1/S transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000070814 chr5 150357629 150400308 + TCOF1 protein_coding This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 6949 GO:0005829, GO:0005730, GO:0005730, GO:0005654, GO:0001650, cytosol, nucleolus, nucleolus, nucleoplasm, fibrillar center, GO:0097110, GO:0097110, GO:0046982, GO:0030674, GO:0005515, GO:0005215, GO:0003723, scaffold protein binding, scaffold protein binding, protein heterodimerization activity, protein-macromolecule adaptor activity, protein binding, transporter activity, RNA binding, GO:0042790, GO:0014032, GO:0014029, GO:0006417, GO:0001501, nucleolar large rRNA transcription by RNA polymerase I, neural crest cell development, neural crest formation, regulation of translation, skeletal system development, 131 129 189 205 185 340 193 131 225 ENSG00000070831 chr1 22052627 22092946 + CDC42 protein_coding The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]. 998 GO:0072686, GO:0070062, GO:0051233, GO:0045335, GO:0045177, GO:0043197, GO:0043197, GO:0043025, GO:0043005, GO:0036464, GO:0032991, GO:0031256, GO:0030496, GO:0030175, GO:0030141, GO:0017119, GO:0016020, GO:0016020, GO:0016020, GO:0005925, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0005813, GO:0005789, GO:0005737, GO:0000322, GO:0000139, mitotic spindle, extracellular exosome, spindle midzone, phagocytic vesicle, apical part of cell, dendritic spine, dendritic spine, neuronal cell body, neuron projection, cytoplasmic ribonucleoprotein granule, protein-containing complex, leading edge membrane, midbody, filopodium, secretory granule, Golgi transport complex, membrane, membrane, membrane, focal adhesion, cell-cell junction, plasma membrane, plasma membrane, cytosol, centrosome, endoplasmic reticulum membrane, cytoplasm, storage vacuole, Golgi membrane, GO:0061630, GO:0042802, GO:0034191, GO:0032427, GO:0031996, GO:0031435, GO:0030742, GO:0019901, GO:0019901, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, ubiquitin protein ligase activity, identical protein binding, apolipoprotein A-I receptor binding, GBD domain binding, thioesterase binding, mitogen-activated protein kinase kinase kinase binding, GTP-dependent protein binding, protein kinase binding, protein kinase binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:2000251, GO:1900026, GO:0099563, GO:0090316, GO:0090135, GO:0072384, GO:0071346, GO:0060997, GO:0060661, GO:0060501, GO:0060071, GO:0060047, GO:0051988, GO:0051835, GO:0051683, GO:0051496, GO:0051492, GO:0051491, GO:0051491, GO:0051489, GO:0051149, GO:0051056, GO:0048664, GO:0048549, GO:0048013, GO:0048010, GO:0046847, GO:0046330, GO:0045740, GO:0045198, GO:0043552, GO:0043525, GO:0043393, GO:0042059, GO:0039694, GO:0038189, GO:0038096, GO:0036336, GO:0035722, GO:0034613, GO:0034332, GO:0034329, GO:0032488, GO:0032467, GO:0031333, GO:0031295, GO:0031274, GO:0030307, GO:0030225, GO:0030036, GO:0030031, GO:0021762, GO:0016567, GO:0016477, GO:0010592, GO:0010591, GO:0007596, GO:0007229, GO:0007163, GO:0007097, GO:0007088, GO:0007030, GO:0007015, GO:0006911, GO:0006897, GO:0003161, GO:0002040, positive regulation of actin cytoskeleton reorganization, positive regulation of substrate adhesion-dependent cell spreading, modification of synaptic structure, positive regulation of intracellular protein transport, actin filament branching, organelle transport along microtubule, cellular response to interferon-gamma, dendritic spine morphogenesis, submandibular salivary gland formation, positive regulation of epithelial cell proliferation involved in lung morphogenesis, Wnt signaling pathway, planar cell polarity pathway, heart contraction, regulation of attachment of spindle microtubules to kinetochore, positive regulation of synapse structural plasticity, establishment of Golgi localization, positive regulation of stress fiber assembly, regulation of stress fiber assembly, positive regulation of filopodium assembly, positive regulation of filopodium assembly, regulation of filopodium assembly, positive regulation of muscle cell differentiation, regulation of small GTPase mediated signal transduction, neuron fate determination, positive regulation of pinocytosis, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, filopodium assembly, positive regulation of JNK cascade, positive regulation of DNA replication, establishment of epithelial cell apical/basal polarity, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of neuron apoptotic process, regulation of protein binding, negative regulation of epidermal growth factor receptor signaling pathway, viral RNA genome replication, neuropilin signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, dendritic cell migration, interleukin-12-mediated signaling pathway, cellular protein localization, adherens junction organization, cell junction assembly, Cdc42 protein signal transduction, positive regulation of cytokinesis, negative regulation of protein-containing complex assembly, T cell costimulation, positive regulation of pseudopodium assembly, positive regulation of cell growth, macrophage differentiation, actin cytoskeleton organization, cell projection assembly, substantia nigra development, protein ubiquitination, cell migration, positive regulation of lamellipodium assembly, regulation of lamellipodium assembly, blood coagulation, integrin-mediated signaling pathway, establishment or maintenance of cell polarity, nuclear migration, regulation of mitotic nuclear division, Golgi organization, actin filament organization, phagocytosis, engulfment, endocytosis, cardiac conduction system development, sprouting angiogenesis, 57 95 71 273 368 334 282 182 280 ENSG00000070882 chr7 24796539 24981634 - OSBPL3 protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 26031 GO:0097038, GO:0097038, GO:0043231, GO:0032433, GO:0031965, GO:0016020, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005789, perinuclear endoplasmic reticulum, perinuclear endoplasmic reticulum, intracellular membrane-bounded organelle, filopodium tip, nuclear membrane, membrane, membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, endoplasmic reticulum membrane, GO:0032934, GO:0015485, GO:0015485, GO:0015248, GO:0005515, sterol binding, cholesterol binding, cholesterol binding, sterol transporter activity, protein binding, GO:0015918, GO:0006699, sterol transport, bile acid biosynthetic process, 39 18 61 130 34 104 78 27 90 ENSG00000070886 chr1 22563564 22603594 + EPHA8 protein_coding This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]. 2046 GO:0043235, GO:0043005, GO:0043005, GO:0031901, GO:0005887, GO:0005887, GO:0005886, receptor complex, neuron projection, neuron projection, early endosome membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0005524, GO:0005005, GO:0005004, GO:0004714, ATP binding, transmembrane-ephrin receptor activity, GPI-linked ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:0071372, GO:0048013, GO:0048013, GO:0046777, GO:0043552, GO:0043410, GO:0033674, GO:0033628, GO:0031175, GO:0030155, GO:0018108, GO:0016322, GO:0007411, GO:0007411, GO:0007275, GO:0007169, GO:0007155, GO:0006929, cellular response to follicle-stimulating hormone stimulus, ephrin receptor signaling pathway, ephrin receptor signaling pathway, protein autophosphorylation, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAPK cascade, positive regulation of kinase activity, regulation of cell adhesion mediated by integrin, neuron projection development, regulation of cell adhesion, peptidyl-tyrosine phosphorylation, neuron remodeling, axon guidance, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, substrate-dependent cell migration, 0 0 0 0 0 0 0 0 0 ENSG00000070915 chr16 56865207 56915850 + SLC12A3 protein_coding This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6559 GO:0070062, GO:0070062, GO:0016324, GO:0016324, GO:0016324, GO:0016020, GO:0005887, GO:0005886, GO:0005829, extracellular exosome, extracellular exosome, apical plasma membrane, apical plasma membrane, apical plasma membrane, membrane, integral component of plasma membrane, plasma membrane, cytosol, GO:0015379, GO:0015378, GO:0015081, GO:0008511, GO:0005515, potassium:chloride symporter activity, sodium:chloride symporter activity, sodium ion transmembrane transporter activity, sodium:potassium:chloride symporter activity, protein binding, GO:1990573, GO:1902476, GO:0055078, GO:0055075, GO:0055064, GO:0035725, GO:0035725, GO:0006884, GO:0006814, GO:0006811, potassium ion import across plasma membrane, chloride transmembrane transport, sodium ion homeostasis, potassium ion homeostasis, chloride ion homeostasis, sodium ion transmembrane transport, sodium ion transmembrane transport, cell volume homeostasis, sodium ion transport, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000070950 chr3 8775402 8963773 - RAD18 protein_coding The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008]. 56852 GO:0097505, GO:0042405, GO:0035861, GO:0016604, GO:0005813, GO:0005737, GO:0005657, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, Rad6-Rad18 complex, nuclear inclusion body, site of double-strand break, nuclear body, centrosome, cytoplasm, replication fork, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0061630, GO:0046872, GO:0044877, GO:0042802, GO:0031625, GO:0031593, GO:0005515, GO:0003697, GO:0003684, GO:0000403, ubiquitin protein ligase activity, metal ion binding, protein-containing complex binding, identical protein binding, ubiquitin protein ligase binding, polyubiquitin modification-dependent protein binding, protein binding, single-stranded DNA binding, damaged DNA binding, Y-form DNA binding, GO:0060548, GO:0051984, GO:0051865, GO:0042769, GO:0016567, GO:0009411, GO:0006974, GO:0006513, GO:0006301, GO:0006281, negative regulation of cell death, positive regulation of chromosome segregation, protein autoubiquitination, DNA damage response, detection of DNA damage, protein ubiquitination, response to UV, cellular response to DNA damage stimulus, protein monoubiquitination, postreplication repair, DNA repair, 52 61 135 64 47 75 51 28 63 ENSG00000070961 chr12 89588049 89709300 - ATP2B1 protein_coding The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 490 GO:0099059, GO:0098982, GO:0098982, GO:0098978, GO:0098978, GO:0070062, GO:0045121, GO:0043231, GO:0032809, GO:0032591, GO:0016324, GO:0016323, GO:0016020, GO:0009898, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005654, GO:0001772, integral component of presynaptic active zone membrane, GABA-ergic synapse, GABA-ergic synapse, glutamatergic synapse, glutamatergic synapse, extracellular exosome, membrane raft, intracellular membrane-bounded organelle, neuronal cell body membrane, dendritic spine membrane, apical plasma membrane, basolateral plasma membrane, membrane, cytoplasmic side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, immunological synapse, GO:1905056, GO:1905056, GO:0046872, GO:0030165, GO:0019829, GO:0016887, GO:0015085, GO:0005524, GO:0005516, GO:0005515, GO:0005388, calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration, calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration, metal ion binding, PDZ domain binding, ATPase-coupled cation transmembrane transporter activity, ATPase activity, calcium ion transmembrane transporter activity, ATP binding, calmodulin binding, protein binding, calcium transmembrane transporter activity, phosphorylative mechanism, GO:1990034, GO:1903779, GO:1900076, GO:0099509, GO:0071386, GO:0071305, GO:0051928, GO:0051481, GO:0051481, GO:0051480, GO:0051480, GO:0034220, GO:0030501, GO:0009409, GO:0008217, GO:0007568, GO:0007420, GO:0006874, GO:0003407, GO:0003056, GO:0001818, calcium ion export across plasma membrane, regulation of cardiac conduction, regulation of cellular response to insulin stimulus, regulation of presynaptic cytosolic calcium ion concentration, cellular response to corticosterone stimulus, cellular response to vitamin D, positive regulation of calcium ion transport, negative regulation of cytosolic calcium ion concentration, negative regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, ion transmembrane transport, positive regulation of bone mineralization, response to cold, regulation of blood pressure, aging, brain development, cellular calcium ion homeostasis, neural retina development, regulation of vascular associated smooth muscle contraction, negative regulation of cytokine production, 7329 6934 11776 2823 4339 4016 3197 3085 2959 ENSG00000070985 chr11 2404515 2423045 - TRPM5 protein_coding This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]. 29850 GO:0043025, GO:0030425, GO:0016021, GO:0005887, GO:0005886, neuronal cell body, dendrite, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0099604, GO:0005515, GO:0005272, GO:0005267, GO:0005261, GO:0005244, GO:0005227, GO:0005216, ligand-gated calcium channel activity, protein binding, sodium channel activity, potassium channel activity, cation channel activity, voltage-gated ion channel activity, calcium activated cation channel activity, ion channel activity, GO:0098655, GO:0071805, GO:0070838, GO:0070588, GO:0070588, GO:0050909, GO:0035725, GO:0034765, GO:0019722, cation transmembrane transport, potassium ion transmembrane transport, divalent metal ion transport, calcium ion transmembrane transport, calcium ion transmembrane transport, sensory perception of taste, sodium ion transmembrane transport, regulation of ion transmembrane transport, calcium-mediated signaling, 0 0 1 0 0 8 2 2 0 ENSG00000071051 chr2 105744897 105894274 + NCK2 protein_coding This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 8440 GO:0014069, GO:0012506, GO:0005829, GO:0005783, GO:0005737, GO:0005737, postsynaptic density, vesicle membrane, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, GO:0097110, GO:0044877, GO:0035591, GO:0030159, GO:0008093, GO:0005515, GO:0001784, scaffold protein binding, protein-containing complex binding, signaling adaptor activity, signaling receptor complex adaptor activity, cytoskeletal anchor activity, protein binding, phosphotyrosine residue binding, GO:1990441, GO:1903912, GO:1903898, GO:1902237, GO:0060996, GO:0048013, GO:0048010, GO:0045944, GO:0042110, GO:0042102, GO:0036493, GO:0033137, GO:0030838, GO:0030032, GO:0016477, GO:0008285, GO:0007176, GO:0007173, GO:0007172, GO:0007165, GO:0007015, GO:0001771, negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation, negative regulation of PERK-mediated unfolded protein response, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, dendritic spine development, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of transcription by RNA polymerase II, T cell activation, positive regulation of T cell proliferation, positive regulation of translation in response to endoplasmic reticulum stress, negative regulation of peptidyl-serine phosphorylation, positive regulation of actin filament polymerization, lamellipodium assembly, cell migration, negative regulation of cell population proliferation, regulation of epidermal growth factor-activated receptor activity, epidermal growth factor receptor signaling pathway, signal complex assembly, signal transduction, actin filament organization, immunological synapse formation, 390 317 489 283 410 366 299 327 331 ENSG00000071054 chr2 101696850 101894689 + MAP4K4 protein_coding The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 9448 GO:0005925, GO:0005737, GO:0005737, focal adhesion, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0008017, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004111, protein threonine kinase activity, protein serine kinase activity, microtubule binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, creatine kinase activity, GO:0120183, GO:0051894, GO:0051549, GO:0048812, GO:0046328, GO:0043547, GO:0043066, GO:0035556, GO:0032147, GO:0032014, GO:0031098, GO:0030335, GO:0030033, GO:0023014, GO:0006468, GO:0001953, GO:0000165, positive regulation of focal adhesion disassembly, positive regulation of focal adhesion assembly, positive regulation of keratinocyte migration, neuron projection morphogenesis, regulation of JNK cascade, positive regulation of GTPase activity, negative regulation of apoptotic process, intracellular signal transduction, activation of protein kinase activity, positive regulation of ARF protein signal transduction, stress-activated protein kinase signaling cascade, positive regulation of cell migration, microvillus assembly, signal transduction by protein phosphorylation, protein phosphorylation, negative regulation of cell-matrix adhesion, MAPK cascade, 4560 4416 6423 2408 3236 3146 2999 2566 2692 ENSG00000071073 chr2 98619106 98731126 - MGAT4A protein_coding This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1, 4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]. 11320 GO:0070062, GO:0016021, GO:0005795, GO:0005793, GO:0005788, GO:0005783, GO:0000139, extracellular exosome, integral component of membrane, Golgi stack, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum lumen, endoplasmic reticulum, Golgi membrane, GO:0046872, GO:0008454, GO:0008375, metal ion binding, alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0044267, GO:0043687, GO:0006491, GO:0006487, cellular protein metabolic process, post-translational protein modification, N-glycan processing, protein N-linked glycosylation, 654 641 827 697 537 896 669 445 726 ENSG00000071082 chr2 101001715 101024032 + RPL31 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6160 GO:0070062, GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, extracellular exosome, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 482 407 729 1308 567 1489 912 655 1059 ENSG00000071127 chr4 10074339 10116949 - WDR1 protein_coding This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9948 GO:0070062, GO:0042995, GO:0030864, GO:0030054, GO:0005911, GO:0005886, GO:0005884, GO:0005829, GO:0005576, GO:0002102, extracellular exosome, cell projection, cortical actin cytoskeleton, cell junction, cell-cell junction, plasma membrane, actin filament, cytosol, extracellular region, podosome, GO:0051015, GO:0051015, actin filament binding, actin filament binding, GO:1990266, GO:0060307, GO:0048713, GO:0045214, GO:0045199, GO:0043297, GO:0042247, GO:0040011, GO:0030865, GO:0030836, GO:0030834, GO:0030220, GO:0030043, GO:0030042, GO:0007605, GO:0002576, GO:0002446, neutrophil migration, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of oligodendrocyte differentiation, sarcomere organization, maintenance of epithelial cell apical/basal polarity, apical junction assembly, establishment of planar polarity of follicular epithelium, locomotion, cortical cytoskeleton organization, positive regulation of actin filament depolymerization, regulation of actin filament depolymerization, platelet formation, actin filament fragmentation, actin filament depolymerization, sensory perception of sound, platelet degranulation, neutrophil mediated immunity, 5368 4360 7302 3835 4150 4747 3905 3248 4317 ENSG00000071189 chr7 17790761 17940501 - SNX13 protein_coding This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]. 23161 GO:0031901, GO:0005769, early endosome membrane, early endosome, GO:0035091, GO:0032266, phosphatidylinositol binding, phosphatidylinositol-3-phosphate binding, GO:0043547, GO:0009968, GO:0006886, positive regulation of GTPase activity, negative regulation of signal transduction, intracellular protein transport, 1350 1346 1310 1020 1436 1225 1217 1062 1125 ENSG00000071203 chr11 60492778 60507430 + MS4A12 protein_coding The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. 54860 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000071205 chr4 147732063 148072780 + ARHGAP10 protein_coding 79658 GO:0048471, GO:0005886, GO:0005829, GO:0005829, perinuclear region of cytoplasm, plasma membrane, cytosol, cytosol, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0043066, GO:0007165, GO:0007010, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, negative regulation of apoptotic process, signal transduction, cytoskeleton organization, 4 15 17 16 1 11 5 10 4 ENSG00000071242 chr6 166409364 166906451 - RPS6KA2 protein_coding This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]. 6196 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004712, GO:0004711, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, ribosomal protein S6 kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0045786, GO:0043065, GO:0035556, GO:0018105, GO:0008285, GO:0007165, GO:0006468, negative regulation of cell cycle, positive regulation of apoptotic process, intracellular signal transduction, peptidyl-serine phosphorylation, negative regulation of cell population proliferation, signal transduction, protein phosphorylation, 54 62 100 41 56 46 64 41 25 ENSG00000071243 chr7 120950749 120977216 + ING3 protein_coding The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008]. 54556 GO:0035267, GO:0035267, GO:0032777, GO:0005654, GO:0005654, GO:0000812, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, Piccolo NuA4 histone acetyltransferase complex, nucleoplasm, nucleoplasm, Swr1 complex, GO:0046872, GO:0035064, GO:0035064, GO:0004402, GO:0004402, metal ion binding, methylated histone binding, methylated histone binding, histone acetyltransferase activity, histone acetyltransferase activity, GO:0043968, GO:0043967, GO:0043065, GO:0040008, histone H2A acetylation, histone H4 acetylation, positive regulation of apoptotic process, regulation of growth, 828 820 852 730 852 950 756 730 844 ENSG00000071246 chr14 76762189 76783015 + VASH1 protein_coding 22846 GO:0045177, GO:0005783, GO:0005737, GO:0005737, GO:0005615, apical part of cell, endoplasmic reticulum, cytoplasm, cytoplasm, extracellular space, GO:0005515, GO:0004181, GO:0004181, GO:0003779, protein binding, metallocarboxypeptidase activity, metallocarboxypeptidase activity, actin binding, GO:2000772, GO:1901491, GO:0060716, GO:0045765, GO:0043537, GO:0016525, GO:0016525, GO:0010596, GO:0009611, GO:0007050, GO:0006508, GO:0001937, GO:0001525, regulation of cellular senescence, negative regulation of lymphangiogenesis, labyrinthine layer blood vessel development, regulation of angiogenesis, negative regulation of blood vessel endothelial cell migration, negative regulation of angiogenesis, negative regulation of angiogenesis, negative regulation of endothelial cell migration, response to wounding, cell cycle arrest, proteolysis, negative regulation of endothelial cell proliferation, angiogenesis, 7 9 6 29 23 10 19 9 21 ENSG00000071282 chr3 8501707 8574673 + LMCD1 protein_coding This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. 29995 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003714, GO:0003714, zinc ion binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:0070886, GO:0044267, GO:0010611, GO:0000122, positive regulation of calcineurin-NFAT signaling cascade, cellular protein metabolic process, regulation of cardiac muscle hypertrophy, negative regulation of transcription by RNA polymerase II, 2 0 0 0 0 0 0 0 5 ENSG00000071462 chr7 73683025 73705161 + BUD23 protein_coding This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]. 114049 GO:0048471, GO:0005730, GO:0005730, GO:0005654, GO:0005654, perinuclear region of cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0046982, GO:0016435, GO:0016435, GO:0008168, GO:0005515, GO:0003723, protein heterodimerization activity, rRNA (guanine) methyltransferase activity, rRNA (guanine) methyltransferase activity, methyltransferase activity, protein binding, RNA binding, GO:2000234, GO:0070476, GO:0070476, GO:0031167, GO:0006325, positive regulation of rRNA processing, rRNA (guanine-N7)-methylation, rRNA (guanine-N7)-methylation, rRNA methylation, chromatin organization, 67 99 172 214 183 213 178 121 195 ENSG00000071537 chr14 81471549 81533861 - SEL1L protein_coding The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 6400 GO:0044322, GO:0036513, GO:0016021, GO:0005789, GO:0005783, GO:0000839, GO:0000839, GO:0000836, endoplasmic reticulum quality control compartment, Derlin-1 retrotranslocation complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Hrd1p ubiquitin ligase ERAD-L complex, Hrd1p ubiquitin ligase ERAD-L complex, Hrd1p ubiquitin ligase complex, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:1904380, GO:0055085, GO:0050821, GO:0036503, GO:0036503, GO:0030970, GO:0030433, GO:0030433, GO:0016567, GO:0009306, GO:0007219, GO:0006641, endoplasmic reticulum mannose trimming, transmembrane transport, protein stabilization, ERAD pathway, ERAD pathway, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, protein secretion, Notch signaling pathway, triglyceride metabolic process, 1971 2317 2218 823 1509 1222 978 1109 1033 ENSG00000071539 chr5 892643 919357 + TRIP13 protein_coding This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]. 9319 GO:0005694, GO:0005634, GO:0001673, chromosome, nucleus, male germ cell nucleus, GO:0042802, GO:0016887, GO:0005524, GO:0005515, GO:0003712, identical protein binding, ATPase activity, ATP binding, protein binding, transcription coregulator activity, GO:1903506, GO:0051598, GO:0048477, GO:0007286, GO:0007283, GO:0007144, GO:0007141, GO:0007131, GO:0007131, GO:0007130, GO:0007094, GO:0006366, GO:0006302, GO:0001556, regulation of nucleic acid-templated transcription, meiotic recombination checkpoint, oogenesis, spermatid development, spermatogenesis, female meiosis I, male meiosis I, reciprocal meiotic recombination, reciprocal meiotic recombination, synaptonemal complex assembly, mitotic spindle assembly checkpoint, transcription by RNA polymerase II, double-strand break repair, oocyte maturation, 6 7 24 16 7 5 11 10 4 ENSG00000071553 chrX 154428632 154436516 + ATP6AP1 protein_coding This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]. 537 GO:0070062, GO:0033181, GO:0033180, GO:0033116, GO:0016469, GO:0016021, GO:0010008, GO:0005789, extracellular exosome, plasma membrane proton-transporting V-type ATPase complex, proton-transporting V-type ATPase, V1 domain, endoplasmic reticulum-Golgi intermediate compartment membrane, proton-transporting two-sector ATPase complex, integral component of membrane, endosome membrane, endoplasmic reticulum membrane, GO:0031267, GO:0005524, GO:0005515, small GTPase binding, ATP binding, protein binding, GO:2001206, GO:1902600, GO:0070374, GO:0051656, GO:0045921, GO:0045851, GO:0045780, GO:0045669, GO:0036295, GO:0034220, GO:0033572, GO:0030641, GO:0008286, GO:0006879, positive regulation of osteoclast development, proton transmembrane transport, positive regulation of ERK1 and ERK2 cascade, establishment of organelle localization, positive regulation of exocytosis, pH reduction, positive regulation of bone resorption, positive regulation of osteoblast differentiation, cellular response to increased oxygen levels, ion transmembrane transport, transferrin transport, regulation of cellular pH, insulin receptor signaling pathway, cellular iron ion homeostasis, 1104 1521 1352 606 956 568 702 861 688 ENSG00000071564 chr19 1609290 1652605 - TCF3 protein_coding This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]. 6929 GO:0090575, GO:0005737, GO:0005667, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000791, GO:0000785, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, cytoplasm, transcription regulator complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, euchromatin, chromatin, chromatin, chromatin, GO:0070888, GO:0070888, GO:0070888, GO:0070644, GO:0070491, GO:0046982, GO:0046982, GO:0043425, GO:0042803, GO:0031435, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0001228, GO:0001227, GO:0001102, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, E-box binding, E-box binding, E-box binding, vitamin D response element binding, repressing transcription factor binding, protein heterodimerization activity, protein heterodimerization activity, bHLH transcription factor binding, protein homodimerization activity, mitogen-activated protein kinase kinase kinase binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902036, GO:0051149, GO:0051091, GO:0045944, GO:0045944, GO:0045893, GO:0045666, GO:0033152, GO:0033152, GO:0030183, GO:0006357, GO:0006355, GO:0002326, GO:0000122, regulation of hematopoietic stem cell differentiation, positive regulation of muscle cell differentiation, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of neuron differentiation, immunoglobulin V(D)J recombination, immunoglobulin V(D)J recombination, B cell differentiation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, B cell lineage commitment, negative regulation of transcription by RNA polymerase II, 37 58 64 72 41 138 123 45 132 ENSG00000071575 chr2 12716889 12742734 + TRIB2 protein_coding This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]. 28951 GO:0005856, GO:0005737, GO:0005634, cytoskeleton, cytoplasm, nucleus, GO:0055106, GO:0031625, GO:0031434, GO:0008134, GO:0005515, GO:0004860, GO:0004672, GO:0000166, ubiquitin-protein transferase regulator activity, ubiquitin protein ligase binding, mitogen-activated protein kinase kinase binding, transcription factor binding, protein binding, protein kinase inhibitor activity, protein kinase activity, nucleotide binding, GO:0045599, GO:0043405, GO:0043405, GO:0032693, GO:0032436, GO:0032436, GO:0006469, GO:0006468, negative regulation of fat cell differentiation, regulation of MAP kinase activity, regulation of MAP kinase activity, negative regulation of interleukin-10 production, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein kinase activity, protein phosphorylation, 88 62 133 224 72 271 156 78 179 ENSG00000071626 chr19 1407569 1435687 + DAZAP1 protein_coding In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]. 26528 GO:1990904, GO:0032991, GO:0005829, GO:0005654, ribonucleoprotein complex, protein-containing complex, cytosol, nucleoplasm, GO:0035613, GO:0034046, GO:0034046, GO:0008266, GO:0008266, GO:0005515, GO:0003730, GO:0003723, RNA stem-loop binding, poly(G) binding, poly(G) binding, poly(U) RNA binding, poly(U) RNA binding, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0048026, GO:0030154, GO:0008283, GO:0007283, GO:0001893, positive regulation of mRNA splicing, via spliceosome, cell differentiation, cell population proliferation, spermatogenesis, maternal placenta development, 381 474 570 530 380 615 399 330 411 ENSG00000071655 chr19 1573596 1592801 - MBD3 protein_coding DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 53615 GO:0032991, GO:0016581, GO:0005654, GO:0000785, protein-containing complex, NuRD complex, nucleoplasm, chromatin, GO:0031492, GO:0008327, GO:0005515, GO:0003677, nucleosomal DNA binding, methyl-CpG binding, protein binding, DNA binding, GO:1901796, GO:0048568, GO:0044030, GO:0043044, GO:0032355, GO:0031667, GO:0007568, GO:0007507, GO:0007420, regulation of signal transduction by p53 class mediator, embryonic organ development, regulation of DNA methylation, ATP-dependent chromatin remodeling, response to estradiol, response to nutrient levels, aging, heart development, brain development, 43 60 61 61 49 95 75 43 76 ENSG00000071677 chr2 237566574 237567175 + PRLH protein_coding 51052 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0031861, GO:0005184, GO:0005179, prolactin-releasing peptide receptor binding, neuropeptide hormone activity, hormone activity, GO:0048483, GO:0045444, GO:0043434, GO:0040014, GO:0032868, GO:0009749, GO:0007631, GO:0007186, GO:0006629, GO:0006112, GO:0002023, GO:0001894, autonomic nervous system development, fat cell differentiation, response to peptide hormone, regulation of multicellular organism growth, response to insulin, response to glucose, feeding behavior, G protein-coupled receptor signaling pathway, lipid metabolic process, energy reserve metabolic process, reduction of food intake in response to dietary excess, tissue homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000071794 chr3 149030127 149086554 - HLTF protein_coding This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]. 6596 GO:0016020, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, membrane, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0061630, GO:0031625, GO:0008270, GO:0008094, GO:0005524, GO:0005515, GO:0004386, GO:0003723, GO:0003677, GO:0001228, GO:0000978, ubiquitin protein ligase activity, ubiquitin protein ligase binding, zinc ion binding, DNA-dependent ATPase activity, ATP binding, protein binding, helicase activity, RNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0016567, GO:0016567, GO:0006325, positive regulation of transcription by RNA polymerase II, protein ubiquitination, protein ubiquitination, chromatin organization, 18 9 33 53 10 32 45 11 24 ENSG00000071859 chrX 154444126 154450654 + FAM50A protein_coding This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009]. 9130 GO:0005654, GO:0005634, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, nucleus, GO:0003723, RNA binding, GO:0007283, GO:0006325, spermatogenesis, chromatin organization, 338 446 384 2410 2199 2432 2211 1560 1427 ENSG00000071889 chrX 154506159 154516242 - FAM3A protein_coding This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 60343 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0003674, molecular_function, GO:1905035, GO:0061844, GO:0046890, GO:0045721, GO:0019732, negative regulation of antifungal innate immune response, antimicrobial humoral immune response mediated by antimicrobial peptide, regulation of lipid biosynthetic process, negative regulation of gluconeogenesis, antifungal humoral response, 130 113 125 99 91 70 78 65 102 ENSG00000071894 chr8 144393229 144409349 - CPSF1 protein_coding Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]. 29894 GO:0005847, GO:0005847, GO:0005654, GO:0005654, GO:0005634, mRNA cleavage and polyadenylation specificity factor complex, mRNA cleavage and polyadenylation specificity factor complex, nucleoplasm, nucleoplasm, nucleus, GO:0035925, GO:0019899, GO:0005515, mRNA 3'-UTR AU-rich region binding, enzyme binding, protein binding, GO:0098789, GO:0031124, GO:0006406, GO:0006388, GO:0006378, GO:0006378, GO:0006369, GO:0000398, pre-mRNA cleavage required for polyadenylation, mRNA 3'-end processing, mRNA export from nucleus, tRNA splicing, via endonucleolytic cleavage and ligation, mRNA polyadenylation, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 212 136 337 316 141 337 288 120 294 ENSG00000071909 chr2 170178145 170655171 + MYO3B protein_coding 140469 GO:0032426, GO:0016459, GO:0005737, stereocilium tip, myosin complex, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0003779, GO:0003774, protein threonine kinase activity, protein serine kinase activity, ATP binding, actin binding, motor activity, GO:0090103, GO:0050896, GO:0007605, GO:0007601, GO:0006468, cochlea morphogenesis, response to stimulus, sensory perception of sound, visual perception, protein phosphorylation, 0 0 2 0 0 23 0 2 7 ENSG00000071967 chr2 171522247 171558133 + CYBRD1 protein_coding This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]. 79901 GO:0070062, GO:0031526, GO:0016021, GO:0005886, GO:0005765, extracellular exosome, brush border membrane, integral component of membrane, plasma membrane, lysosomal membrane, GO:0046872, GO:0016491, GO:0005515, GO:0000293, metal ion binding, oxidoreductase activity, protein binding, ferric-chelate reductase activity, GO:0055114, GO:0010039, GO:0006879, oxidation-reduction process, response to iron ion, cellular iron ion homeostasis, 463 340 550 119 201 182 194 249 204 ENSG00000071991 chr18 66501083 66604138 - CDH19 protein_coding This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]. 28513 GO:0016342, GO:0016021, GO:0005912, catenin complex, integral component of membrane, adherens junction, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0034332, GO:0016339, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000071994 chr6 170575295 170584692 - PDCD2 protein_coding This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]. 5134 GO:0070062, GO:0005737, GO:0005634, extracellular exosome, cytoplasm, nucleus, GO:0046872, GO:0019899, GO:0005515, GO:0003677, metal ion binding, enzyme binding, protein binding, DNA binding, GO:1902035, GO:1901532, GO:0043065, GO:0006919, GO:0006915, positive regulation of hematopoietic stem cell proliferation, regulation of hematopoietic progenitor cell differentiation, positive regulation of apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 95 80 122 101 109 121 71 58 114 ENSG00000072041 chr12 84859488 84913615 - SLC6A15 protein_coding This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 55117 GO:0016021, GO:0005887, GO:0005886, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015171, GO:0005515, GO:0005326, GO:0005298, amino acid transmembrane transporter activity, protein binding, neurotransmitter transmembrane transporter activity, proline:sodium symporter activity, GO:0035725, GO:0015824, GO:0015820, GO:0015820, GO:0015804, GO:0006865, GO:0006836, GO:0003333, sodium ion transmembrane transport, proline transport, leucine transport, leucine transport, neutral amino acid transport, amino acid transport, neurotransmitter transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000072042 chr14 67676801 67695814 - RDH11 protein_coding The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]. 51109 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0052650, GO:0016616, GO:0005515, GO:0004745, NADP-retinol dehydrogenase activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, retinol dehydrogenase activity, GO:0110095, GO:0055114, GO:0042574, GO:0042572, GO:0042572, GO:0001523, GO:0001523, cellular detoxification of aldehyde, oxidation-reduction process, retinal metabolic process, retinol metabolic process, retinol metabolic process, retinoid metabolic process, retinoid metabolic process, 44 34 76 90 36 79 58 39 40 ENSG00000072062 chr19 14091688 14118084 - PRKACA protein_coding This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]. 5566 GO:0097546, GO:0070062, GO:0048471, GO:0045171, GO:0044853, GO:0043197, GO:0036126, GO:0034704, GO:0031594, GO:0016607, GO:0016020, GO:0005952, GO:0005952, GO:0005930, GO:0005829, GO:0005829, GO:0005813, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0001669, ciliary base, extracellular exosome, perinuclear region of cytoplasm, intercellular bridge, plasma membrane raft, dendritic spine, sperm flagellum, calcium channel complex, neuromuscular junction, nuclear speck, membrane, cAMP-dependent protein kinase complex, cAMP-dependent protein kinase complex, axoneme, cytosol, cytosol, centrosome, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, acrosomal vesicle, GO:0034237, GO:0034237, GO:0031625, GO:0030145, GO:0019904, GO:0019901, GO:0005524, GO:0005515, GO:0004712, GO:0004691, GO:0004691, GO:0004691, GO:0004691, GO:0004679, GO:0004674, GO:0004674, GO:0004672, GO:0000287, protein kinase A regulatory subunit binding, protein kinase A regulatory subunit binding, ubiquitin protein ligase binding, manganese ion binding, protein domain specific binding, protein kinase binding, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, cAMP-dependent protein kinase activity, cAMP-dependent protein kinase activity, cAMP-dependent protein kinase activity, cAMP-dependent protein kinase activity, AMP-activated protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:2000810, GO:1903779, GO:1901621, GO:0097711, GO:0086064, GO:0071872, GO:0071377, GO:0071374, GO:0071333, GO:0071158, GO:0070613, GO:0061136, GO:0060314, GO:0055117, GO:0051480, GO:0050804, GO:0048240, GO:0046827, GO:0046777, GO:0045667, GO:0043393, GO:0035584, GO:0034605, GO:0034380, GO:0034199, GO:0019221, GO:0018107, GO:0018105, GO:0018105, GO:0018105, GO:0016241, GO:0010881, GO:0010737, GO:0010389, GO:0007596, GO:0006468, GO:0006468, GO:0006397, GO:0003091, GO:0002223, GO:0002027, GO:0001843, GO:0001707, GO:0000086, regulation of bicellular tight junction assembly, regulation of cardiac conduction, negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, ciliary basal body-plasma membrane docking, cell communication by electrical coupling involved in cardiac conduction, cellular response to epinephrine stimulus, cellular response to glucagon stimulus, cellular response to parathyroid hormone stimulus, cellular response to glucose stimulus, positive regulation of cell cycle arrest, regulation of protein processing, regulation of proteasomal protein catabolic process, regulation of ryanodine-sensitive calcium-release channel activity, regulation of cardiac muscle contraction, regulation of cytosolic calcium ion concentration, modulation of chemical synaptic transmission, sperm capacitation, positive regulation of protein export from nucleus, protein autophosphorylation, regulation of osteoblast differentiation, regulation of protein binding, calcium-mediated signaling using intracellular calcium source, cellular response to heat, high-density lipoprotein particle assembly, activation of protein kinase A activity, cytokine-mediated signaling pathway, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, regulation of macroautophagy, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, protein kinase A signaling, regulation of G2/M transition of mitotic cell cycle, blood coagulation, protein phosphorylation, protein phosphorylation, mRNA processing, renal water homeostasis, stimulatory C-type lectin receptor signaling pathway, regulation of heart rate, neural tube closure, mesoderm formation, G2/M transition of mitotic cell cycle, 2019 1944 2003 720 1567 1152 1058 1390 1132 ENSG00000072071 chr19 14147743 14206187 - ADGRL1 protein_coding This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]. 22859 GO:0045202, GO:0043005, GO:0042734, GO:0042734, GO:0030426, GO:0030424, GO:0030424, GO:0016021, GO:0014069, GO:0005887, GO:0005886, synapse, neuron projection, presynaptic membrane, presynaptic membrane, growth cone, axon, axon, integral component of membrane, postsynaptic density, integral component of plasma membrane, plasma membrane, GO:0050839, GO:0030246, GO:0016524, GO:0016524, GO:0005515, GO:0004930, cell adhesion molecule binding, carbohydrate binding, latrotoxin receptor activity, latrotoxin receptor activity, protein binding, G protein-coupled receptor activity, GO:0090129, GO:0051965, GO:0035584, GO:0007189, GO:0007186, GO:0007166, GO:0007157, GO:0007157, positive regulation of synapse maturation, positive regulation of synapse assembly, calcium-mediated signaling using intracellular calcium source, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, 76 82 134 113 104 183 145 84 75 ENSG00000072080 chr2 234050679 234077134 + SPP2 protein_coding This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]. 6694 GO:0062023, GO:0031089, GO:0005788, GO:0005576, collagen-containing extracellular matrix, platelet dense granule lumen, endoplasmic reticulum lumen, extracellular region, GO:0004866, endopeptidase inhibitor activity, GO:0046849, GO:0044267, GO:0043687, GO:0010951, GO:0002576, GO:0001501, bone remodeling, cellular protein metabolic process, post-translational protein modification, negative regulation of endopeptidase activity, platelet degranulation, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000072110 chr14 68874143 68979440 - ACTN1 protein_coding Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 87 GO:0098978, GO:0098978, GO:0070062, GO:0042995, GO:0031143, GO:0031093, GO:0030018, GO:0005925, GO:0005925, GO:0005925, GO:0005916, GO:0005911, GO:0005903, GO:0005886, GO:0005884, GO:0005829, GO:0005737, GO:0005615, GO:0005576, GO:0001726, GO:0001725, glutamatergic synapse, glutamatergic synapse, extracellular exosome, cell projection, pseudopodium, platelet alpha granule lumen, Z disc, focal adhesion, focal adhesion, focal adhesion, fascia adherens, cell-cell junction, brush border, plasma membrane, actin filament, cytosol, cytoplasm, extracellular space, extracellular region, ruffle, stress fiber, GO:0099186, GO:0099186, GO:0051015, GO:0044325, GO:0042803, GO:0030374, GO:0017166, GO:0017166, GO:0005515, GO:0005509, GO:0005178, GO:0005178, GO:0003725, structural constituent of postsynapse, structural constituent of postsynapse, actin filament binding, ion channel binding, protein homodimerization activity, nuclear receptor coactivator activity, vinculin binding, vinculin binding, protein binding, calcium ion binding, integrin binding, integrin binding, double-stranded RNA binding, GO:1903508, GO:0099173, GO:0070527, GO:0051764, GO:0051639, GO:0051271, GO:0051017, GO:0048041, GO:0042981, GO:0036344, GO:0030220, GO:0030168, GO:0007015, GO:0002576, positive regulation of nucleic acid-templated transcription, postsynapse organization, platelet aggregation, actin crosslink formation, actin filament network formation, negative regulation of cellular component movement, actin filament bundle assembly, focal adhesion assembly, regulation of apoptotic process, platelet morphogenesis, platelet formation, platelet activation, actin filament organization, platelet degranulation, 7977 8372 9819 2859 5099 4420 3629 4042 3739 ENSG00000072121 chr14 67727374 67816590 - ZFYVE26 protein_coding This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]. 23503 GO:0030496, GO:0030496, GO:0005813, GO:0005813, GO:0005765, midbody, midbody, centrosome, centrosome, lysosomal membrane, GO:0046872, GO:0032266, GO:0032266, GO:0005515, metal ion binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, protein binding, GO:0032465, GO:0032465, GO:0000724, GO:0000281, regulation of cytokinesis, regulation of cytokinesis, double-strand break repair via homologous recombination, mitotic cytokinesis, 218 283 300 182 281 240 240 170 183 ENSG00000072133 chrX 84058346 84187907 - RPS6KA6 protein_coding This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [provided by RefSeq, Jan 2010]. 27330 GO:0005829, GO:0005739, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0001650, cytosol, mitochondrion, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, fibrillar center, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004711, GO:0004674, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, ribosomal protein S6 kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:2000381, GO:0070373, GO:0045992, GO:0018105, GO:0007417, GO:0007165, GO:0006978, GO:0006978, GO:0006468, negative regulation of mesoderm development, negative regulation of ERK1 and ERK2 cascade, negative regulation of embryonic development, peptidyl-serine phosphorylation, central nervous system development, signal transduction, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000072134 chr17 19215615 19336715 + EPN2 protein_coding This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 22905 GO:0043231, GO:0043231, GO:0030128, GO:0030125, GO:0005886, GO:0005829, GO:0005768, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, clathrin coat of endocytic vesicle, clathrin vesicle coat, plasma membrane, cytosol, endosome, GO:0045296, GO:0030276, GO:0005543, GO:0005515, cadherin binding, clathrin binding, phospholipid binding, protein binding, GO:1903671, GO:0061024, GO:0045747, GO:0030948, GO:0006897, negative regulation of sprouting angiogenesis, membrane organization, positive regulation of Notch signaling pathway, negative regulation of vascular endothelial growth factor receptor signaling pathway, endocytosis, 121 245 249 58 140 76 53 124 120 ENSG00000072135 chr2 130356007 130375409 + PTPN18 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. 26469 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0004726, GO:0004725, protein binding, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1901185, GO:0071345, GO:0038128, GO:0035335, GO:0006470, GO:0001825, negative regulation of ERBB signaling pathway, cellular response to cytokine stimulus, ERBB2 signaling pathway, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, blastocyst formation, 404 525 534 605 814 684 529 583 595 ENSG00000072163 chr2 127638381 127681786 - LIMS2 protein_coding This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 55679 GO:0005925, GO:0005925, GO:0005925, GO:0005911, GO:0005886, GO:0005829, GO:0005737, GO:0005634, focal adhesion, focal adhesion, focal adhesion, cell-cell junction, plasma membrane, cytosol, cytoplasm, nucleus, GO:0046872, metal ion binding, GO:2001046, GO:2000346, GO:2000178, GO:1900026, GO:0098609, GO:0045216, GO:0043066, GO:0034329, positive regulation of integrin-mediated signaling pathway, negative regulation of hepatocyte proliferation, negative regulation of neural precursor cell proliferation, positive regulation of substrate adhesion-dependent cell spreading, cell-cell adhesion, cell-cell junction organization, negative regulation of apoptotic process, cell junction assembly, 4 26 20 14 28 20 26 25 24 ENSG00000072182 chr2 219514170 219538772 + ASIC4 protein_coding This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]. 55515 GO:0005887, integral component of plasma membrane, GO:0015280, GO:0015081, GO:0005515, GO:0005216, ligand-gated sodium channel activity, sodium ion transmembrane transporter activity, protein binding, ion channel activity, GO:0035725, GO:0001662, sodium ion transmembrane transport, behavioral fear response, 0 0 0 0 0 0 0 0 3 ENSG00000072195 chr2 219434846 219498287 + SPEG protein_coding This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]. 10290 GO:0005634, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein kinase activity, GO:0042692, GO:0008285, GO:0007517, GO:0006468, muscle cell differentiation, negative regulation of cell population proliferation, muscle organ development, protein phosphorylation, 4 2 6 18 3 19 6 4 11 ENSG00000072201 chr4 53459301 53701405 - LNX1 protein_coding This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]. 84708 GO:0005737, cytoplasm, GO:0046872, GO:0042802, GO:0030165, GO:0005515, GO:0004842, metal ion binding, identical protein binding, PDZ domain binding, protein binding, ubiquitin-protein transferase activity, GO:0016567, GO:0006511, protein ubiquitination, ubiquitin-dependent protein catabolic process, 41 53 72 35 40 52 47 73 45 ENSG00000072210 chr17 19648136 19677598 + ALDH3A2 protein_coding Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 224 GO:0043231, GO:0016021, GO:0005789, GO:0005778, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, peroxisomal membrane, GO:0052814, GO:0050061, GO:0046577, GO:0043878, GO:0042803, GO:0005515, GO:0004029, GO:0004029, GO:0004028, medium-chain-aldehyde dehydrogenase activity, long-chain-aldehyde dehydrogenase activity, long-chain-alcohol oxidase activity, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity, protein homodimerization activity, protein binding, aldehyde dehydrogenase (NAD+) activity, aldehyde dehydrogenase (NAD+) activity, 3-chloroallyl aldehyde dehydrogenase activity, GO:0055114, GO:0046458, GO:0033306, GO:0030148, GO:0008544, GO:0007422, GO:0007417, GO:0006081, GO:0006081, GO:0001561, oxidation-reduction process, hexadecanal metabolic process, phytol metabolic process, sphingolipid biosynthetic process, epidermis development, peripheral nervous system development, central nervous system development, cellular aldehyde metabolic process, cellular aldehyde metabolic process, fatty acid alpha-oxidation, 26 19 38 42 16 50 47 26 19 ENSG00000072274 chr3 196027183 196082189 - TFRC protein_coding This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]. 7037 GO:1990712, GO:1903561, GO:0072562, GO:0070062, GO:0055037, GO:0048471, GO:0043231, GO:0042470, GO:0031410, GO:0030665, GO:0016323, GO:0016020, GO:0010008, GO:0010008, GO:0009986, GO:0009986, GO:0009897, GO:0009897, GO:0005905, GO:0005887, GO:0005886, GO:0005886, GO:0005769, GO:0005768, GO:0005615, GO:0005576, HFE-transferrin receptor complex, extracellular vesicle, blood microparticle, extracellular exosome, recycling endosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, melanosome, cytoplasmic vesicle, clathrin-coated vesicle membrane, basolateral plasma membrane, membrane, endosome membrane, endosome membrane, cell surface, cell surface, external side of plasma membrane, external side of plasma membrane, clathrin-coated pit, integral component of plasma membrane, plasma membrane, plasma membrane, early endosome, endosome, extracellular space, extracellular region, GO:0044877, GO:0042803, GO:0042802, GO:0019901, GO:0005515, GO:0004998, GO:0004998, GO:0004998, GO:0003725, GO:0003723, GO:0001618, protein-containing complex binding, protein homodimerization activity, identical protein binding, protein kinase binding, protein binding, transferrin receptor activity, transferrin receptor activity, transferrin receptor activity, double-stranded RNA binding, RNA binding, virus receptor activity, GO:1990830, GO:1900182, GO:0150104, GO:0061024, GO:0051092, GO:0046718, GO:0045830, GO:0045780, GO:0043123, GO:0043066, GO:0042127, GO:0042102, GO:0035690, GO:0035556, GO:0033572, GO:0033572, GO:0033572, GO:0033138, GO:0031623, GO:0031334, GO:0030890, GO:0030316, GO:0010637, GO:0010628, GO:0006879, GO:0006879, GO:0006826, GO:0006826, GO:0001934, GO:0001558, cellular response to leukemia inhibitory factor, positive regulation of protein localization to nucleus, transport across blood-brain barrier, membrane organization, positive regulation of NF-kappaB transcription factor activity, viral entry into host cell, positive regulation of isotype switching, positive regulation of bone resorption, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, regulation of cell population proliferation, positive regulation of T cell proliferation, cellular response to drug, intracellular signal transduction, transferrin transport, transferrin transport, transferrin transport, positive regulation of peptidyl-serine phosphorylation, receptor internalization, positive regulation of protein-containing complex assembly, positive regulation of B cell proliferation, osteoclast differentiation, negative regulation of mitochondrial fusion, positive regulation of gene expression, cellular iron ion homeostasis, cellular iron ion homeostasis, iron ion transport, iron ion transport, positive regulation of protein phosphorylation, regulation of cell growth, 409 385 606 755 565 769 724 338 435 ENSG00000072310 chr17 17810399 17837002 - SREBF1 protein_coding This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]. 6720 GO:0032991, GO:0016021, GO:0012507, GO:0005829, GO:0005789, GO:0005737, GO:0005654, GO:0005635, GO:0005634, GO:0005634, GO:0000785, GO:0000139, protein-containing complex, integral component of membrane, ER to Golgi transport vesicle membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, nucleoplasm, nuclear envelope, nucleus, nucleus, chromatin, Golgi membrane, GO:1990837, GO:0046983, GO:0044877, GO:0032810, GO:0019901, GO:0005515, GO:0004879, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein dimerization activity, protein-containing complex binding, sterol response element binding, protein kinase binding, protein binding, nuclear receptor activity, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1903214, GO:1903146, GO:0071398, GO:0051591, GO:0046676, GO:0045944, GO:0045944, GO:0045944, GO:0045542, GO:0045540, GO:0045471, GO:0045444, GO:0042789, GO:0042493, GO:0033762, GO:0032933, GO:0032933, GO:0032570, GO:0032526, GO:0032094, GO:0031647, GO:0031065, GO:0030522, GO:0030324, GO:0019217, GO:0010883, GO:0010876, GO:0010867, GO:0009749, GO:0009267, GO:0008610, GO:0008286, GO:0008203, GO:0007623, GO:0007568, GO:0006629, GO:0006357, GO:0006357, GO:0003062, regulation of protein targeting to mitochondrion, regulation of autophagy of mitochondrion, cellular response to fatty acid, response to cAMP, negative regulation of insulin secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of cholesterol biosynthetic process, regulation of cholesterol biosynthetic process, response to ethanol, fat cell differentiation, mRNA transcription by RNA polymerase II, response to drug, response to glucagon, SREBP signaling pathway, SREBP signaling pathway, response to progesterone, response to retinoic acid, response to food, regulation of protein stability, positive regulation of histone deacetylation, intracellular receptor signaling pathway, lung development, regulation of fatty acid metabolic process, regulation of lipid storage, lipid localization, positive regulation of triglyceride biosynthetic process, response to glucose, cellular response to starvation, lipid biosynthetic process, insulin receptor signaling pathway, cholesterol metabolic process, circadian rhythm, aging, lipid metabolic process, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of heart rate by chemical signal, 606 695 1145 382 661 727 566 514 656 ENSG00000072315 chrX 111774315 112082776 - TRPC5 protein_coding This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010]. 7224 GO:0034704, GO:0034703, GO:0005887, GO:0005886, calcium channel complex, cation channel complex, integral component of plasma membrane, plasma membrane, GO:0070679, GO:0015279, GO:0005515, GO:0005262, inositol 1,4,5 trisphosphate binding, store-operated calcium channel activity, protein binding, calcium channel activity, GO:0070782, GO:0070588, GO:0070588, GO:0051480, GO:0051402, GO:0007399, GO:0006828, GO:0006816, phosphatidylserine exposure on apoptotic cell surface, calcium ion transmembrane transport, calcium ion transmembrane transport, regulation of cytosolic calcium ion concentration, neuron apoptotic process, nervous system development, manganese ion transport, calcium ion transport, 0 1 1 3 0 0 0 0 0 ENSG00000072364 chr5 132875379 132963634 - AFF4 protein_coding The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]. 27125 GO:0035327, GO:0032783, GO:0008023, GO:0005654, GO:0005654, GO:0001650, transcriptionally active chromatin, super elongation complex, transcription elongation factor complex, nucleoplasm, nucleoplasm, fibrillar center, GO:0005515, protein binding, GO:0010468, GO:0007286, GO:0006368, GO:0006366, regulation of gene expression, spermatid development, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 3308 2966 4999 1930 2124 2284 1823 1315 1665 ENSG00000072401 chr10 58334975 58370753 + UBE2D1 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 7321 GO:0032991, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000151, GO:0000151, protein-containing complex, cytosol, cytoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, ubiquitin ligase complex, GO:0061631, GO:0061631, GO:0061630, GO:0031625, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase activity, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:1902916, GO:1901990, GO:0070936, GO:0070936, GO:0035666, GO:0031398, GO:0031145, GO:0030509, GO:0016579, GO:0016567, GO:0006625, GO:0006511, GO:0006511, GO:0006511, GO:0002756, GO:0000209, GO:0000209, GO:0000122, positive regulation of protein polyubiquitination, regulation of mitotic cell cycle phase transition, protein K48-linked ubiquitination, protein K48-linked ubiquitination, TRIF-dependent toll-like receptor signaling pathway, positive regulation of protein ubiquitination, anaphase-promoting complex-dependent catabolic process, BMP signaling pathway, protein deubiquitination, protein ubiquitination, protein targeting to peroxisome, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, MyD88-independent toll-like receptor signaling pathway, protein polyubiquitination, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 1600 1907 1341 955 2384 931 1304 2020 916 ENSG00000072415 chr14 67241109 67335819 + MPP5 protein_coding This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 64398 GO:0070062, GO:0043220, GO:0043219, GO:0043204, GO:0035749, GO:0032991, GO:0030424, GO:0016324, GO:0005923, GO:0005912, GO:0005912, GO:0005886, GO:0005794, GO:0005793, GO:0005737, extracellular exosome, Schmidt-Lanterman incisure, lateral loop, perikaryon, myelin sheath adaxonal region, protein-containing complex, axon, apical plasma membrane, bicellular tight junction, adherens junction, adherens junction, plasma membrane, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, cytoplasm, GO:0019904, GO:0005524, GO:0005515, protein domain specific binding, ATP binding, protein binding, GO:0090162, GO:0072659, GO:0070830, GO:0035750, GO:0032288, GO:0032287, GO:0017015, GO:0002011, establishment of epithelial cell polarity, protein localization to plasma membrane, bicellular tight junction assembly, protein localization to myelin sheath abaxonal region, myelin assembly, peripheral nervous system myelin maintenance, regulation of transforming growth factor beta receptor signaling pathway, morphogenesis of an epithelial sheet, 163 208 145 1474 1764 2228 1812 1102 1335 ENSG00000072422 chr10 60869438 61001440 - RHOBTB1 protein_coding The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. 9886 GO:0043231, GO:0042995, GO:0031410, GO:0005938, GO:0005886, GO:0005886, GO:0005856, GO:0005829, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, cell cortex, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0019901, GO:0005525, GO:0005515, GO:0003924, protein kinase binding, GTP binding, protein binding, GTPase activity, GO:0051056, GO:0043652, GO:0032956, GO:0030865, GO:0008360, GO:0007264, GO:0007163, GO:0007015, regulation of small GTPase mediated signal transduction, engulfment of apoptotic cell, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, regulation of cell shape, small GTPase mediated signal transduction, establishment or maintenance of cell polarity, actin filament organization, 0 1 1 2 0 6 0 1 0 ENSG00000072501 chrX 53374149 53422728 - SMC1A protein_coding Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 8243 GO:0097431, GO:0030893, GO:0016363, GO:0008278, GO:0008278, GO:0005829, GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0000794, GO:0000777, GO:0000776, GO:0000775, mitotic spindle pole, meiotic cohesin complex, nuclear matrix, cohesin complex, cohesin complex, cytosol, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, condensed nuclear chromosome, condensed chromosome kinetochore, kinetochore, chromosome, centromeric region, GO:0046982, GO:0036033, GO:0005524, GO:0005515, GO:0003723, GO:0003682, protein heterodimerization activity, mediator complex binding, ATP binding, protein binding, RNA binding, chromatin binding, GO:0090307, GO:0072423, GO:0051321, GO:0051301, GO:0019827, GO:0009314, GO:0007064, GO:0007062, GO:0006281, GO:0000070, mitotic spindle assembly, response to DNA damage checkpoint signaling, meiotic cell cycle, cell division, stem cell population maintenance, response to radiation, mitotic sister chromatid cohesion, sister chromatid cohesion, DNA repair, mitotic sister chromatid segregation, 577 578 746 344 390 491 345 332 391 ENSG00000072506 chrX 53431258 53434373 - HSD17B10 protein_coding This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]. 3028 GO:0042645, GO:0030678, GO:0030678, GO:0005886, GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial nucleoid, mitochondrial ribonuclease P complex, mitochondrial ribonuclease P complex, plasma membrane, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0047044, GO:0047035, GO:0047015, GO:0044594, GO:0030283, GO:0008709, GO:0005515, GO:0003857, GO:0003723, GO:0000049, androstan-3-alpha,17-beta-diol dehydrogenase activity, testosterone dehydrogenase (NAD+) activity, 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity, 17-beta-hydroxysteroid dehydrogenase (NAD+) activity, testosterone dehydrogenase [NAD(P)] activity, cholate 7-alpha-dehydrogenase activity, protein binding, 3-hydroxyacyl-CoA dehydrogenase activity, RNA binding, tRNA binding, GO:1990180, GO:0097745, GO:0090646, GO:0070901, GO:0070901, GO:0062173, GO:0051289, GO:0009083, GO:0008210, GO:0008209, GO:0008207, GO:0007005, GO:0006699, GO:0006635, GO:0006629, GO:0006550, mitochondrial tRNA 3'-end processing, mitochondrial tRNA 5'-end processing, mitochondrial tRNA processing, mitochondrial tRNA methylation, mitochondrial tRNA methylation, brexanolone metabolic process, protein homotetramerization, branched-chain amino acid catabolic process, estrogen metabolic process, androgen metabolic process, C21-steroid hormone metabolic process, mitochondrion organization, bile acid biosynthetic process, fatty acid beta-oxidation, lipid metabolic process, isoleucine catabolic process, 24 24 32 49 27 86 22 28 40 ENSG00000072518 chr11 63838928 63911019 + MARK2 protein_coding This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]. 2011 GO:0097427, GO:0030425, GO:0016328, GO:0016020, GO:0005886, GO:0005884, GO:0005739, GO:0005737, GO:0005737, GO:0005654, microtubule bundle, dendrite, lateral plasma membrane, membrane, plasma membrane, actin filament, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, GO:0106311, GO:0106310, GO:0050321, GO:0050321, GO:0050321, GO:0050321, GO:0048156, GO:0048156, GO:0045296, GO:0030295, GO:0008289, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0003723, GO:0000287, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, tau protein binding, cadherin binding, protein kinase activator activity, lipid binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, RNA binding, magnesium ion binding, GO:1904526, GO:0071963, GO:0070507, GO:0061564, GO:0051646, GO:0051493, GO:0050770, GO:0046777, GO:0045197, GO:0035556, GO:0035556, GO:0032147, GO:0030010, GO:0030010, GO:0018107, GO:0018105, GO:0018105, GO:0016055, GO:0010976, GO:0006468, GO:0006468, GO:0006468, GO:0001764, GO:0000422, GO:0000226, regulation of microtubule binding, establishment or maintenance of cell polarity regulating cell shape, regulation of microtubule cytoskeleton organization, axon development, mitochondrion localization, regulation of cytoskeleton organization, regulation of axonogenesis, protein autophosphorylation, establishment or maintenance of epithelial cell apical/basal polarity, intracellular signal transduction, intracellular signal transduction, activation of protein kinase activity, establishment of cell polarity, establishment of cell polarity, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, positive regulation of neuron projection development, protein phosphorylation, protein phosphorylation, protein phosphorylation, neuron migration, autophagy of mitochondrion, microtubule cytoskeleton organization, 1915 2191 2336 1200 1980 1729 1565 1516 1490 ENSG00000072571 chr5 163460203 163491945 + HMMR protein_coding The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]. 3161 GO:0016020, GO:0015630, GO:0009986, GO:0005886, GO:0005829, GO:0005829, GO:0005813, membrane, microtubule cytoskeleton, cell surface, plasma membrane, cytosol, cytosol, centrosome, GO:0005540, GO:0005515, hyaluronic acid binding, protein binding, GO:0030214, GO:0010389, hyaluronan catabolic process, regulation of G2/M transition of mitotic cell cycle, 8 2 6 7 7 6 4 1 0 ENSG00000072609 chr12 132822187 132956304 - CHFR protein_coding This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]. 55743 GO:0016605, GO:0005634, GO:0005634, PML body, nucleus, nucleus, GO:0061630, GO:0046872, GO:0005515, GO:0004842, GO:0004842, GO:0000166, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, nucleotide binding, GO:0051301, GO:0032436, GO:0031648, GO:0031398, GO:0019941, GO:0016567, GO:0007093, GO:0007093, GO:0007093, GO:0006511, GO:0000209, cell division, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein destabilization, positive regulation of protein ubiquitination, modification-dependent protein catabolic process, protein ubiquitination, mitotic cell cycle checkpoint, mitotic cell cycle checkpoint, mitotic cell cycle checkpoint, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 1026 1105 1287 823 1179 1134 985 893 910 ENSG00000072657 chr12 72087266 72670757 + TRHDE protein_coding This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008]. 29953 GO:0070062, GO:0005887, GO:0005886, GO:0005737, extracellular exosome, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0070006, GO:0042277, GO:0008270, GO:0004177, metalloaminopeptidase activity, peptide binding, zinc ion binding, aminopeptidase activity, GO:0043171, GO:0008217, GO:0007267, GO:0007165, GO:0006508, peptide catabolic process, regulation of blood pressure, cell-cell signaling, signal transduction, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000072682 chr5 132191838 132295315 - P4HA2 protein_coding This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 8974 GO:0043231, GO:0005829, GO:0005788, GO:0005783, GO:0005783, GO:0005654, intracellular membrane-bounded organelle, cytosol, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, nucleoplasm, GO:0031418, GO:0016702, GO:0009055, GO:0005506, GO:0004656, L-ascorbic acid binding, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, electron transfer activity, iron ion binding, procollagen-proline 4-dioxygenase activity, GO:0022900, GO:0018401, electron transport chain, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, 89 45 96 42 47 111 47 38 49 ENSG00000072694 chr1 161663147 161678654 + FCGR2B protein_coding The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 2213 GO:0044297, GO:0043197, GO:0009897, GO:0005887, GO:0005887, GO:0005886, GO:0005886, cell body, dendritic spine, external side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0044877, GO:0019864, GO:0019772, GO:0005515, GO:0004888, GO:0001540, GO:0001540, protein-containing complex binding, IgG binding, low-affinity IgG receptor activity, protein binding, transmembrane signaling receptor activity, amyloid-beta binding, amyloid-beta binding, GO:2001199, GO:1905898, GO:1904646, GO:1902950, GO:1902564, GO:1901216, GO:0090264, GO:0071219, GO:0050869, GO:0050859, GO:0050777, GO:0050776, GO:0050776, GO:0050766, GO:0050765, GO:0046330, GO:0045576, GO:0045088, GO:0043318, GO:0043031, GO:0038096, GO:0032693, GO:0030889, GO:0021549, GO:0019886, GO:0016064, GO:0016032, GO:0010469, GO:0009617, GO:0007166, GO:0007165, GO:0006955, GO:0006954, GO:0006952, GO:0006911, GO:0006898, GO:0002924, GO:0002922, GO:0002865, GO:0002819, GO:0002638, GO:0002622, GO:0002605, GO:0002436, GO:0002316, GO:0002313, GO:0002266, GO:0001818, GO:0001814, GO:0001811, negative regulation of dendritic cell differentiation, positive regulation of response to endoplasmic reticulum stress, cellular response to amyloid-beta, regulation of dendritic spine maintenance, negative regulation of neutrophil activation, positive regulation of neuron death, regulation of immune complex clearance by monocytes and macrophages, cellular response to molecule of bacterial origin, negative regulation of B cell activation, negative regulation of B cell receptor signaling pathway, negative regulation of immune response, regulation of immune response, regulation of immune response, positive regulation of phagocytosis, negative regulation of phagocytosis, positive regulation of JNK cascade, mast cell activation, regulation of innate immune response, negative regulation of cytotoxic T cell degranulation, negative regulation of macrophage activation, Fc-gamma receptor signaling pathway involved in phagocytosis, negative regulation of interleukin-10 production, negative regulation of B cell proliferation, cerebellum development, antigen processing and presentation of exogenous peptide antigen via MHC class II, immunoglobulin mediated immune response, viral process, regulation of signaling receptor activity, response to bacterium, cell surface receptor signaling pathway, signal transduction, immune response, inflammatory response, defense response, phagocytosis, engulfment, receptor-mediated endocytosis, negative regulation of humoral immune response mediated by circulating immunoglobulin, positive regulation of humoral immune response, negative regulation of acute inflammatory response to antigenic stimulus, regulation of adaptive immune response, negative regulation of immunoglobulin production, regulation of B cell antigen processing and presentation, negative regulation of dendritic cell antigen processing and presentation, immune complex clearance by monocytes and macrophages, follicular B cell differentiation, mature B cell differentiation involved in immune response, follicular dendritic cell activation, negative regulation of cytokine production, negative regulation of antibody-dependent cellular cytotoxicity, negative regulation of type I hypersensitivity, 167 249 166 128 359 157 159 262 148 ENSG00000072736 chr16 68084751 68229259 + NFATC3 protein_coding The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]. 4775 GO:0005829, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytosol, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0008134, GO:0005515, GO:0001228, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1905064, GO:1902894, GO:0045944, GO:0045944, GO:0038095, GO:0033173, GO:0007275, GO:0006954, GO:0006357, GO:0006357, GO:0001816, negative regulation of vascular associated smooth muscle cell differentiation, negative regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, Fc-epsilon receptor signaling pathway, calcineurin-NFAT signaling cascade, multicellular organism development, inflammatory response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, cytokine production, 645 1125 840 493 909 762 532 753 563 ENSG00000072756 chr3 3126916 3150879 + TRNT1 protein_coding The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 51095 GO:0005759, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrion, nucleoplasm, GO:0052929, GO:0052928, GO:0052927, GO:0034062, GO:0005524, GO:0000049, ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity, CTP:3'-cytidine-tRNA cytidylyltransferase activity, CTP:tRNA cytidylyltransferase activity, 5'-3' RNA polymerase activity, ATP binding, tRNA binding, GO:1990180, GO:1990180, GO:0042780, GO:0001680, mitochondrial tRNA 3'-end processing, mitochondrial tRNA 3'-end processing, tRNA 3'-end processing, tRNA 3'-terminal CCA addition, 214 181 200 328 314 409 385 222 203 ENSG00000072778 chr17 7217125 7225273 + ACADVL protein_coding The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 37 GO:0042645, GO:0031966, GO:0031314, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005730, GO:0005654, mitochondrial nucleoid, mitochondrial membrane, extrinsic component of mitochondrial inner membrane, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, nucleolus, nucleoplasm, GO:0050660, GO:0042802, GO:0017099, GO:0017099, GO:0005515, GO:0004466, GO:0003995, GO:0000062, flavin adenine dinucleotide binding, identical protein binding, very-long-chain-acyl-CoA dehydrogenase activity, very-long-chain-acyl-CoA dehydrogenase activity, protein binding, long-chain-acyl-CoA dehydrogenase activity, acyl-CoA dehydrogenase activity, fatty-acyl-CoA binding, GO:0090181, GO:0046322, GO:0045717, GO:0036498, GO:0033539, GO:0033539, GO:0033539, GO:0030855, GO:0015980, GO:0009409, GO:0006635, GO:0001659, regulation of cholesterol metabolic process, negative regulation of fatty acid oxidation, negative regulation of fatty acid biosynthetic process, IRE1-mediated unfolded protein response, fatty acid beta-oxidation using acyl-CoA dehydrogenase, fatty acid beta-oxidation using acyl-CoA dehydrogenase, fatty acid beta-oxidation using acyl-CoA dehydrogenase, epithelial cell differentiation, energy derivation by oxidation of organic compounds, response to cold, fatty acid beta-oxidation, temperature homeostasis, 1228 1353 1911 1535 1833 1955 1267 1315 1694 ENSG00000072786 chr5 172042073 172188386 - STK10 protein_coding This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]. 6793 GO:0070062, GO:0035579, GO:0005886, GO:0005886, extracellular exosome, specific granule membrane, plasma membrane, plasma membrane, GO:0106311, GO:0106310, GO:0042803, GO:0042802, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, protein homodimerization activity, identical protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000401, GO:0071593, GO:0046777, GO:0043312, GO:0007049, GO:0006468, regulation of lymphocyte migration, lymphocyte aggregation, protein autophosphorylation, neutrophil degranulation, cell cycle, protein phosphorylation, 8726 8763 11374 6945 8411 9985 7654 6008 7839 ENSG00000072803 chr5 171861549 172006873 - FBXW11 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]. 23291 GO:1904115, GO:0043025, GO:0043005, GO:0019005, GO:0005881, GO:0005875, GO:0005829, GO:0005829, GO:0005813, GO:0005635, GO:0005634, GO:0000776, GO:0000151, axon cytoplasm, neuronal cell body, neuron projection, SCF ubiquitin ligase complex, cytoplasmic microtubule, microtubule associated complex, cytosol, cytosol, centrosome, nuclear envelope, nucleus, kinetochore, ubiquitin ligase complex, GO:0070840, GO:0061630, GO:0051010, GO:0046983, GO:0005515, GO:0004842, dynein complex binding, ubiquitin protein ligase activity, microtubule plus-end binding, protein dimerization activity, protein binding, ubiquitin-protein transferase activity, GO:2000574, GO:1901223, GO:0070498, GO:0051403, GO:0050852, GO:0048854, GO:0048511, GO:0047496, GO:0045893, GO:0045892, GO:0045862, GO:0043687, GO:0043161, GO:0042753, GO:0038095, GO:0038061, GO:0031648, GO:0031146, GO:0031023, GO:0016567, GO:0016567, GO:0016055, GO:0016032, GO:0008090, GO:0007281, GO:0007097, GO:0006470, GO:0002223, GO:0000209, GO:0000209, GO:0000132, GO:0000086, regulation of microtubule motor activity, negative regulation of NIK/NF-kappaB signaling, interleukin-1-mediated signaling pathway, stress-activated MAPK cascade, T cell receptor signaling pathway, brain morphogenesis, rhythmic process, vesicle transport along microtubule, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of proteolysis, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of circadian rhythm, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, protein destabilization, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, microtubule organizing center organization, protein ubiquitination, protein ubiquitination, Wnt signaling pathway, viral process, retrograde axonal transport, germ cell development, nuclear migration, protein dephosphorylation, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, protein polyubiquitination, establishment of mitotic spindle orientation, G2/M transition of mitotic cell cycle, 281 329 332 149 300 236 174 243 228 ENSG00000072818 chr17 7336529 7351478 + ACAP1 protein_coding 9744 GO:0055038, GO:0016020, recycling endosome membrane, membrane, GO:0046872, GO:0005515, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GO:0043547, GO:0015031, positive regulation of GTPase activity, protein transport, 1374 1214 1797 1892 1938 2463 1790 1295 1942 ENSG00000072832 chr4 5748084 5893058 - CRMP1 protein_coding This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 1400 GO:0043204, GO:0030496, GO:0030426, GO:0005829, GO:0005829, GO:0005819, GO:0005813, GO:0005634, perikaryon, midbody, growth cone, cytosol, cytosol, spindle, centrosome, nucleus, GO:0042802, GO:0031005, GO:0005515, GO:0004157, identical protein binding, filamin binding, protein binding, dihydropyrimidinase activity, GO:1904530, GO:1904530, GO:0010977, GO:0007411, GO:0007399, GO:0006208, GO:0006139, GO:0000226, negative regulation of actin filament binding, negative regulation of actin filament binding, negative regulation of neuron projection development, axon guidance, nervous system development, pyrimidine nucleobase catabolic process, nucleobase-containing compound metabolic process, microtubule cytoskeleton organization, 0 1 1 2 1 5 0 0 0 ENSG00000072840 chr4 5711197 5814305 + EVC protein_coding This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]. 2121 GO:0098797, GO:0060170, GO:0060170, GO:0036064, GO:0016021, GO:0005929, GO:0005737, plasma membrane protein complex, ciliary membrane, ciliary membrane, ciliary basal body, integral component of membrane, cilium, cytoplasm, GO:0051216, GO:0045880, GO:0007517, GO:0007224, GO:0003416, GO:0001501, cartilage development, positive regulation of smoothened signaling pathway, muscle organ development, smoothened signaling pathway, endochondral bone growth, skeletal system development, 2 1 2 2 0 7 0 0 9 ENSG00000072849 chr17 5471251 5486811 - DERL2 protein_coding Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]. 51009 GO:0048500, GO:0044322, GO:0030176, GO:0030176, GO:0016020, GO:0005789, GO:0005785, GO:0005783, GO:0005770, GO:0005769, GO:0000839, signal recognition particle, endoplasmic reticulum quality control compartment, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, signal recognition particle receptor complex, endoplasmic reticulum, late endosome, early endosome, Hrd1p ubiquitin ligase ERAD-L complex, GO:1990381, GO:0051787, GO:0005515, ubiquitin-specific protease binding, misfolded protein binding, protein binding, GO:1904380, GO:1904153, GO:0030970, GO:0030968, GO:0030968, GO:0030433, GO:0030433, GO:0030307, GO:0016032, GO:0008284, GO:0001967, endoplasmic reticulum mannose trimming, negative regulation of retrograde protein transport, ER to cytosol, retrograde protein transport, ER to cytosol, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, positive regulation of cell growth, viral process, positive regulation of cell population proliferation, suckling behavior, 395 352 481 274 309 290 243 252 264 ENSG00000072858 chr3 113532296 113629578 + SIDT1 protein_coding The protein encoded by this gene belongs to SID1 family of transmembrane dsRNA-gated channels. Family members transport dsRNA into cells and are required for systemic RNA interference. [provided by RefSeq, May 2017]. 54847 GO:0016021, GO:0005886, GO:0005764, integral component of membrane, plasma membrane, lysosome, GO:0051033, GO:0015485, GO:0003725, RNA transmembrane transporter activity, cholesterol binding, double-stranded RNA binding, GO:0050658, RNA transport, 48 38 56 88 36 133 80 37 105 ENSG00000072864 chr16 15643267 15726353 + NDE1 protein_coding This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 54820 GO:0045202, GO:0032154, GO:0031616, GO:0016020, GO:0005874, GO:0005871, GO:0005829, GO:0005813, GO:0005813, GO:0000777, GO:0000776, GO:0000776, synapse, cleavage furrow, spindle pole centrosome, membrane, microtubule, kinesin complex, cytosol, centrosome, centrosome, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0042802, GO:0019904, GO:0008017, GO:0008017, GO:0005515, identical protein binding, protein domain specific binding, microtubule binding, microtubule binding, protein binding, GO:2000574, GO:0097711, GO:0051642, GO:0051303, GO:0051303, GO:0051301, GO:0051298, GO:0047496, GO:0021987, GO:0016477, GO:0010389, GO:0007405, GO:0007100, GO:0007059, GO:0007020, GO:0001764, GO:0000132, GO:0000132, GO:0000086, regulation of microtubule motor activity, ciliary basal body-plasma membrane docking, centrosome localization, establishment of chromosome localization, establishment of chromosome localization, cell division, centrosome duplication, vesicle transport along microtubule, cerebral cortex development, cell migration, regulation of G2/M transition of mitotic cell cycle, neuroblast proliferation, mitotic centrosome separation, chromosome segregation, microtubule nucleation, neuron migration, establishment of mitotic spindle orientation, establishment of mitotic spindle orientation, G2/M transition of mitotic cell cycle, 0 0 0 0 2 1 0 0 0 ENSG00000072952 chr11 10573091 10693988 - MRVI1 protein_coding This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011]. 10335 GO:0048471, GO:0031095, GO:0016529, GO:0016021, GO:0005789, perinuclear region of cytoplasm, platelet dense tubular network membrane, sarcoplasmic reticulum, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0019934, cGMP-mediated signaling, 1811 1718 1984 818 1336 1148 913 1033 976 ENSG00000072954 chr19 16661127 16690029 + TMEM38A protein_coding 79041 GO:0070062, GO:0033017, GO:0031965, GO:0016021, extracellular exosome, sarcoplasmic reticulum membrane, nuclear membrane, integral component of membrane, GO:0042802, GO:0005267, identical protein binding, potassium channel activity, GO:0071805, GO:0071313, GO:0014808, GO:0010881, GO:0007029, potassium ion transmembrane transport, cellular response to caffeine, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, endoplasmic reticulum organization, 7 15 13 7 11 7 6 9 5 ENSG00000072958 chr19 16197578 16245907 + AP1M1 protein_coding The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8907 GO:0070062, GO:0043231, GO:0035579, GO:0032588, GO:0031410, GO:0030665, GO:0030659, GO:0030136, GO:0030131, GO:0016020, GO:0005886, GO:0005829, GO:0005765, GO:0000139, extracellular exosome, intracellular membrane-bounded organelle, specific granule membrane, trans-Golgi network membrane, cytoplasmic vesicle, clathrin-coated vesicle membrane, cytoplasmic vesicle membrane, clathrin-coated vesicle, clathrin adaptor complex, membrane, plasma membrane, cytosol, lysosomal membrane, Golgi membrane, GO:0035615, GO:0005515, clathrin adaptor activity, protein binding, GO:0050690, GO:0043312, GO:0035646, GO:0032438, GO:0019886, GO:0016192, GO:0006886, regulation of defense response to virus by virus, neutrophil degranulation, endosome to melanosome transport, melanosome organization, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, intracellular protein transport, 524 622 638 458 533 481 524 477 394 ENSG00000073008 chr19 44643798 44663583 + PVR protein_coding The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 5817 GO:0016021, GO:0009986, GO:0005925, GO:0005912, GO:0005886, GO:0005737, GO:0005615, integral component of membrane, cell surface, focal adhesion, adherens junction, plasma membrane, cytoplasm, extracellular space, GO:0050839, GO:0038023, GO:0005515, GO:0001618, cell adhesion molecule binding, signaling receptor activity, protein binding, virus receptor activity, GO:0060370, GO:0050776, GO:0046718, GO:0045954, GO:0042271, GO:0034332, GO:0007157, GO:0007156, GO:0002860, susceptibility to T cell mediated cytotoxicity, regulation of immune response, viral entry into host cell, positive regulation of natural killer cell mediated cytotoxicity, susceptibility to natural killer cell mediated cytotoxicity, adherens junction organization, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, 77 158 84 42 140 48 41 127 49 ENSG00000073050 chr19 43543040 43580473 - XRCC1 protein_coding The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]. 7515 GO:0070522, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000781, ERCC4-ERCC1 complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, chromosome, telomeric region, GO:1990599, GO:0032356, GO:0019899, GO:0005515, 3' overhang single-stranded DNA endodeoxyribonuclease activity, oxidized DNA binding, enzyme binding, protein binding, GO:1990414, GO:1905765, GO:1904877, GO:1903518, GO:1903518, GO:0061819, GO:0050882, GO:0042493, GO:0033194, GO:0021766, GO:0021587, GO:0010836, GO:0010033, GO:0006303, GO:0006297, GO:0006288, GO:0006284, GO:0006283, GO:0001666, GO:0000724, GO:0000012, replication-born double-strand break repair via sister chromatid exchange, negative regulation of protection from non-homologous end joining at telomere, positive regulation of DNA ligase activity, positive regulation of single strand break repair, positive regulation of single strand break repair, telomeric DNA-containing double minutes formation, voluntary musculoskeletal movement, response to drug, response to hydroperoxide, hippocampus development, cerebellum morphogenesis, negative regulation of protein ADP-ribosylation, response to organic substance, double-strand break repair via nonhomologous end joining, nucleotide-excision repair, DNA gap filling, base-excision repair, DNA ligation, base-excision repair, transcription-coupled nucleotide-excision repair, response to hypoxia, double-strand break repair via homologous recombination, single strand break repair, 178 203 205 143 170 132 172 164 121 ENSG00000073060 chr12 124776856 124882668 - SCARB1 protein_coding The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2019]. 949 GO:0070062, GO:0043231, GO:0031528, GO:0030666, GO:0009986, GO:0005901, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005765, GO:0005737, extracellular exosome, intracellular membrane-bounded organelle, microvillus membrane, endocytic vesicle membrane, cell surface, caveola, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, cytoplasm, GO:0070506, GO:0070506, GO:0042802, GO:0034186, GO:0034185, GO:0030169, GO:0030169, GO:0008289, GO:0008035, GO:0005545, GO:0005515, GO:0005215, GO:0005044, GO:0005044, GO:0001875, GO:0001786, GO:0001618, GO:0001540, GO:0001530, high-density lipoprotein particle receptor activity, high-density lipoprotein particle receptor activity, identical protein binding, apolipoprotein A-I binding, apolipoprotein binding, low-density lipoprotein particle binding, low-density lipoprotein particle binding, lipid binding, high-density lipoprotein particle binding, 1-phosphatidylinositol binding, protein binding, transporter activity, scavenger receptor activity, scavenger receptor activity, lipopolysaccharide immune receptor activity, phosphatidylserine binding, virus receptor activity, amyloid-beta binding, lipopolysaccharide binding, GO:0070508, GO:0070508, GO:0070508, GO:0070328, GO:0051000, GO:0050892, GO:0050764, GO:0046718, GO:0044406, GO:0043691, GO:0043654, GO:0043654, GO:0043534, GO:0042632, GO:0042060, GO:0035461, GO:0034384, GO:0034384, GO:0034383, GO:0034381, GO:0034375, GO:0033344, GO:0033344, GO:0033344, GO:0032497, GO:0031663, GO:0015920, GO:0015914, GO:0010899, GO:0010886, GO:0010867, GO:0010595, GO:0006898, GO:0006707, GO:0006702, GO:0001935, cholesterol import, cholesterol import, cholesterol import, triglyceride homeostasis, positive regulation of nitric-oxide synthase activity, intestinal absorption, regulation of phagocytosis, viral entry into host cell, adhesion of symbiont to host, reverse cholesterol transport, recognition of apoptotic cell, recognition of apoptotic cell, blood vessel endothelial cell migration, cholesterol homeostasis, wound healing, vitamin transmembrane transport, high-density lipoprotein particle clearance, high-density lipoprotein particle clearance, low-density lipoprotein particle clearance, plasma lipoprotein particle clearance, high-density lipoprotein particle remodeling, cholesterol efflux, cholesterol efflux, cholesterol efflux, detection of lipopolysaccharide, lipopolysaccharide-mediated signaling pathway, lipopolysaccharide transport, phospholipid transport, regulation of phosphatidylcholine catabolic process, positive regulation of cholesterol storage, positive regulation of triglyceride biosynthetic process, positive regulation of endothelial cell migration, receptor-mediated endocytosis, cholesterol catabolic process, androgen biosynthetic process, endothelial cell proliferation, 88 61 62 81 87 73 105 53 45 ENSG00000073067 chr7 983199 989640 + CYP2W1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]. 54905 GO:0043231, GO:0009986, GO:0005886, GO:0005789, GO:0005788, GO:0005737, intracellular membrane-bounded organelle, cell surface, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, cytoplasm, GO:1904768, GO:0020037, GO:0016712, GO:0008401, GO:0008395, GO:0005506, GO:0005503, GO:0001972, all-trans-retinol binding, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, retinoic acid 4-hydroxylase activity, steroid hydroxylase activity, iron ion binding, all-trans retinal binding, retinoic acid binding, GO:0055114, GO:0046222, GO:0042738, GO:0034653, GO:0006805, GO:0006805, GO:0006644, GO:0006082, oxidation-reduction process, aflatoxin metabolic process, exogenous drug catabolic process, retinoic acid catabolic process, xenobiotic metabolic process, xenobiotic metabolic process, phospholipid metabolic process, organic acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000073111 chr3 127598223 127622436 + MCM2 protein_coding The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]. 4171 GO:0071162, GO:0042555, GO:0042555, GO:0015630, GO:0005737, GO:0005730, GO:0005664, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000781, CMG complex, MCM complex, MCM complex, microtubule cytoskeleton, cytoplasm, nucleolus, nuclear origin of replication recognition complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromosome, telomeric region, GO:0046872, GO:0043138, GO:0042393, GO:0019899, GO:0017116, GO:0005524, GO:0005515, GO:0003697, GO:0003688, GO:0003677, metal ion binding, 3'-5' DNA helicase activity, histone binding, enzyme binding, single-stranded DNA helicase activity, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, DNA binding, GO:1905775, GO:1902975, GO:0090102, GO:0071353, GO:0006915, GO:0006334, GO:0006270, GO:0006268, GO:0006267, GO:0006260, GO:0000727, GO:0000082, negative regulation of DNA helicase activity, mitotic DNA replication initiation, cochlea development, cellular response to interleukin-4, apoptotic process, nucleosome assembly, DNA replication initiation, DNA unwinding involved in DNA replication, pre-replicative complex assembly involved in nuclear cell cycle DNA replication, DNA replication, double-strand break repair via break-induced replication, G1/S transition of mitotic cell cycle, 15 30 18 49 41 59 52 37 20 ENSG00000073146 chr22 50089879 50161690 + MOV10L1 protein_coding This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. 54456 GO:0071546, GO:0043186, GO:0043186, GO:0005829, pi-body, P granule, P granule, cytosol, GO:0005524, GO:0003724, GO:0003724, GO:0003723, GO:0003723, GO:0000287, ATP binding, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, magnesium ion binding, GO:0043046, GO:0035194, GO:0034587, GO:0007283, GO:0007283, GO:0007281, GO:0007275, GO:0007141, DNA methylation involved in gamete generation, post-transcriptional gene silencing by RNA, piRNA metabolic process, spermatogenesis, spermatogenesis, germ cell development, multicellular organism development, male meiosis I, 1 0 0 0 0 0 3 0 1 ENSG00000073150 chr22 50170731 50180294 + PANX2 protein_coding The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 56666 GO:0016021, GO:0005921, GO:0005886, GO:0005886, GO:0005886, GO:0005737, integral component of membrane, gap junction, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0055077, GO:0022829, GO:0005198, gap junction hemi-channel activity, wide pore channel activity, structural molecule activity, GO:0055085, GO:0032732, GO:0007267, GO:0006812, GO:0002931, transmembrane transport, positive regulation of interleukin-1 production, cell-cell signaling, cation transport, response to ischemia, 996 972 1262 268 491 375 411 467 387 ENSG00000073169 chr22 50200979 50217616 + SELENOO protein_coding This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Dec 2016]. 83642 GO:0005739, mitochondrion, GO:0070733, GO:0046872, GO:0005524, protein adenylyltransferase activity, metal ion binding, ATP binding, GO:0018117, protein adenylylation, 315 308 306 382 424 434 369 354 371 ENSG00000073282 chr3 189631416 189897279 + TP63 protein_coding This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]. 8626 GO:0032991, GO:0030425, GO:0005791, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, protein-containing complex, dendrite, rough endoplasmic reticulum, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromatin, GO:0097371, GO:0050699, GO:0046872, GO:0042802, GO:0005515, GO:0003700, GO:0003684, GO:0003682, GO:0003677, GO:0002039, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000976, MDM2/MDM4 family protein binding, WW domain binding, metal ion binding, identical protein binding, protein binding, DNA-binding transcription factor activity, damaged DNA binding, chromatin binding, DNA binding, p53 binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000381, GO:2000271, GO:1904888, GO:1904674, GO:1901796, GO:1900740, GO:0061436, GO:0060529, GO:0060513, GO:0060197, GO:0051402, GO:0051262, GO:0048807, GO:0048485, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045892, GO:0045747, GO:0045669, GO:0045617, GO:0043589, GO:0043281, GO:0042981, GO:0042771, GO:0036342, GO:0035116, GO:0035115, GO:0033147, GO:0031069, GO:0030859, GO:0030216, GO:0010838, GO:0010482, GO:0010481, GO:0010259, GO:0009954, GO:0008283, GO:0007569, GO:0007499, GO:0007283, GO:0007219, GO:0006915, GO:0006357, GO:0006338, GO:0002064, GO:0001501, GO:0000122, negative regulation of mesoderm development, positive regulation of fibroblast apoptotic process, cranial skeletal system development, positive regulation of somatic stem cell population maintenance, regulation of signal transduction by p53 class mediator, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, establishment of skin barrier, squamous basal epithelial stem cell differentiation involved in prostate gland acinus development, prostatic bud formation, cloacal septation, neuron apoptotic process, protein tetramerization, female genitalia morphogenesis, sympathetic nervous system development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, positive regulation of osteoblast differentiation, negative regulation of keratinocyte differentiation, skin morphogenesis, regulation of cysteine-type endopeptidase activity involved in apoptotic process, regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, post-anal tail morphogenesis, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, negative regulation of intracellular estrogen receptor signaling pathway, hair follicle morphogenesis, polarized epithelial cell differentiation, keratinocyte differentiation, positive regulation of keratinocyte proliferation, regulation of epidermal cell division, epidermal cell division, multicellular organism aging, proximal/distal pattern formation, cell population proliferation, cell aging, ectoderm and mesoderm interaction, spermatogenesis, Notch signaling pathway, apoptotic process, regulation of transcription by RNA polymerase II, chromatin remodeling, epithelial cell development, skeletal system development, negative regulation of transcription by RNA polymerase II, 1 0 1 1 4 0 0 1 0 ENSG00000073331 chr4 112285509 112442620 + ALPK1 protein_coding This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 80216 GO:0005829, cytosol, GO:0106311, GO:0106310, GO:0048029, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, monosaccharide binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0045087, GO:0043123, GO:0006468, GO:0002753, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, protein phosphorylation, cytoplasmic pattern recognition receptor signaling pathway, 2753 3044 3633 3324 4067 4664 3551 2739 3584 ENSG00000073350 chr17 75525080 75575208 + LLGL2 protein_coding The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 3993 GO:0043231, GO:0030864, GO:0005886, GO:0005829, GO:0005737, GO:0005737, intracellular membrane-bounded organelle, cortical actin cytoskeleton, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0045159, GO:0031267, GO:0030165, GO:0005515, GO:0005096, myosin II binding, small GTPase binding, PDZ domain binding, protein binding, GTPase activator activity, GO:0051301, GO:0051294, GO:0050708, GO:0043547, GO:0032878, GO:0032878, GO:0030866, GO:0015820, GO:0008593, GO:0006887, cell division, establishment of spindle orientation, regulation of protein secretion, positive regulation of GTPase activity, regulation of establishment or maintenance of cell polarity, regulation of establishment or maintenance of cell polarity, cortical actin cytoskeleton organization, leucine transport, regulation of Notch signaling pathway, exocytosis, 22 22 70 104 29 133 82 34 83 ENSG00000073417 chr15 84980440 85139145 + PDE8A protein_coding The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]. 5151 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0047555, GO:0046872, GO:0019900, GO:0004115, GO:0004115, GO:0004114, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, kinase binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:1903206, GO:0071364, GO:0071364, GO:0070374, GO:0070374, GO:0060548, GO:0007186, GO:0007165, GO:0006355, GO:0006198, GO:0001934, negative regulation of hydrogen peroxide-induced cell death, cellular response to epidermal growth factor stimulus, cellular response to epidermal growth factor stimulus, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of cell death, G protein-coupled receptor signaling pathway, signal transduction, regulation of transcription, DNA-templated, cAMP catabolic process, positive regulation of protein phosphorylation, 49 49 60 53 47 48 70 45 61 ENSG00000073464 chrX 10156945 10237660 + CLCN4 protein_coding The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]. 1183 GO:0055038, GO:0055037, GO:0031902, GO:0031901, GO:0010008, GO:0010008, GO:0008021, GO:0005887, GO:0005794, GO:0005789, GO:0005769, GO:0005765, recycling endosome membrane, recycling endosome, late endosome membrane, early endosome membrane, endosome membrane, endosome membrane, synaptic vesicle, integral component of plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, early endosome, lysosomal membrane, GO:0015299, GO:0015297, GO:0015297, GO:0005524, GO:0005515, GO:0005254, GO:0005247, solute:proton antiporter activity, antiporter activity, antiporter activity, ATP binding, protein binding, chloride channel activity, voltage-gated chloride channel activity, GO:1902600, GO:1902476, GO:0034220, GO:0006821, GO:0006821, proton transmembrane transport, chloride transmembrane transport, ion transmembrane transport, chloride transport, chloride transport, 89 189 148 51 162 86 49 147 129 ENSG00000073536 chr17 35128753 35142315 - NLE1 protein_coding 54475 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:2001268, GO:0090263, GO:0061484, GO:0048705, GO:0045930, GO:0007219, GO:0001826, GO:0001822, GO:0001756, GO:0000027, negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, positive regulation of canonical Wnt signaling pathway, hematopoietic stem cell homeostasis, skeletal system morphogenesis, negative regulation of mitotic cell cycle, Notch signaling pathway, inner cell mass cell differentiation, kidney development, somitogenesis, ribosomal large subunit assembly, 6 3 13 22 7 29 7 10 21 ENSG00000073578 chr5 218241 256700 + SDHA protein_coding This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. 6389 GO:0005749, GO:0005749, GO:0005749, GO:0005743, GO:0005743, GO:0005739, GO:0005730, mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleolus, GO:0050660, GO:0009055, GO:0008177, GO:0008177, GO:0005515, GO:0000104, flavin adenine dinucleotide binding, electron transfer activity, succinate dehydrogenase (ubiquinone) activity, succinate dehydrogenase (ubiquinone) activity, protein binding, succinate dehydrogenase activity, GO:0055114, GO:0022904, GO:0007399, GO:0006121, GO:0006105, GO:0006099, GO:0006099, oxidation-reduction process, respiratory electron transport chain, nervous system development, mitochondrial electron transport, succinate to ubiquinone, succinate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, 120 112 173 144 105 184 145 84 118 ENSG00000073584 chr17 40624962 40648864 - SMARCE1 protein_coding The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]. 6605 GO:0071565, GO:0071564, GO:0032991, GO:0016514, GO:0016514, GO:0005654, GO:0005634, GO:0000785, GO:0000228, nBAF complex, npBAF complex, protein-containing complex, SWI/SNF complex, SWI/SNF complex, nucleoplasm, nucleus, chromatin, nuclear chromosome, GO:0047485, GO:0031492, GO:0016922, GO:0016922, GO:0008080, GO:0005515, GO:0003723, GO:0003713, GO:0003682, protein N-terminus binding, nucleosomal DNA binding, nuclear receptor binding, nuclear receptor binding, N-acetyltransferase activity, protein binding, RNA binding, transcription coactivator activity, chromatin binding, GO:1903508, GO:0045892, GO:0045892, GO:0043044, GO:0022008, GO:0006357, GO:0006338, GO:0006337, positive regulation of nucleic acid-templated transcription, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, ATP-dependent chromatin remodeling, neurogenesis, regulation of transcription by RNA polymerase II, chromatin remodeling, nucleosome disassembly, 23 26 31 31 11 20 19 10 27 ENSG00000073598 chr17 35121579 35130732 + FNDC8 protein_coding 54752 GO:0005634, nucleus, GO:0005515, protein binding, 0 0 1 0 0 2 2 0 0 ENSG00000073605 chr17 39904595 39919854 - GSDMB protein_coding This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]. 55876 GO:0005886, GO:0005829, GO:0005575, plasma membrane, cytosol, cellular_component, GO:0070273, GO:0005546, GO:0003674, GO:0001786, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, molecular_function, phosphatidylserine binding, GO:0070269, GO:0042742, pyroptosis, defense response to bacterium, 89 115 172 170 126 231 148 82 136 ENSG00000073614 chr12 280129 389454 - KDM5A protein_coding This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]. 5927 GO:0035097, GO:0032993, GO:0005730, GO:0005654, GO:0005634, histone methyltransferase complex, protein-DNA complex, nucleolus, nucleoplasm, nucleus, GO:0051213, GO:0042393, GO:0035064, GO:0034648, GO:0034647, GO:0034647, GO:0032452, GO:0031490, GO:0008270, GO:0005515, GO:0003713, GO:0003677, GO:0000976, dioxygenase activity, histone binding, methylated histone binding, histone demethylase activity (H3-dimethyl-K4 specific), histone demethylase activity (H3-trimethyl-K4 specific), histone demethylase activity (H3-trimethyl-K4 specific), histone demethylase activity, chromatin DNA binding, zinc ion binding, protein binding, transcription coactivator activity, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901726, GO:0055114, GO:0051090, GO:0045893, GO:0034721, GO:0034720, GO:0032922, GO:0007275, GO:0006338, GO:0000122, negative regulation of histone deacetylase activity, oxidation-reduction process, regulation of DNA-binding transcription factor activity, positive regulation of transcription, DNA-templated, histone H3-K4 demethylation, trimethyl-H3-K4-specific, histone H3-K4 demethylation, circadian regulation of gene expression, multicellular organism development, chromatin remodeling, negative regulation of transcription by RNA polymerase II, 2660 2460 3366 1413 1847 1832 1320 1343 1419 ENSG00000073670 chr17 44759031 44781846 + ADAM11 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 4185 GO:0062023, GO:0016021, GO:0005886, collagen-containing extracellular matrix, integral component of membrane, plasma membrane, GO:0008237, GO:0005178, GO:0004222, metallopeptidase activity, integrin binding, metalloendopeptidase activity, GO:0007229, GO:0006508, integrin-mediated signaling pathway, proteolysis, 1 3 4 5 0 0 2 0 1 ENSG00000073711 chr3 135965673 136147891 + PPP2R3A protein_coding This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]. 5523 GO:0000159, GO:0000159, GO:0000159, protein phosphatase type 2A complex, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0019888, GO:0005515, GO:0005509, protein phosphatase regulator activity, protein binding, calcium ion binding, GO:0061053, GO:0043666, GO:0006470, GO:0006470, somite development, regulation of phosphoprotein phosphatase activity, protein dephosphorylation, protein dephosphorylation, 16 16 26 16 17 9 4 20 2 ENSG00000073712 chr14 52857268 52952435 - FERMT2 protein_coding 10979 GO:0031674, GO:0031258, GO:0031234, GO:0031234, GO:0030055, GO:0030054, GO:0009986, GO:0005938, GO:0005925, GO:0005925, GO:0005925, GO:0005912, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0001725, I band, lamellipodium membrane, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, cell-substrate junction, cell junction, cell surface, cell cortex, focal adhesion, focal adhesion, focal adhesion, adherens junction, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, stress fiber, GO:0051015, GO:0046332, GO:0034713, GO:0019901, GO:0005547, GO:0005515, GO:0005178, GO:0003779, actin filament binding, SMAD binding, type I transforming growth factor beta receptor binding, protein kinase binding, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, integrin binding, actin binding, GO:1903691, GO:1902462, GO:1902414, GO:1900182, GO:0072657, GO:0070374, GO:0060548, GO:0051897, GO:0051894, GO:0051496, GO:0048041, GO:0048041, GO:0045669, GO:0045599, GO:0043547, GO:0043116, GO:0035505, GO:0034446, GO:0034334, GO:0034329, GO:0033625, GO:0033622, GO:0030335, GO:0022604, GO:0016055, GO:0010718, GO:0008360, GO:0007229, GO:0007179, GO:0007160, GO:0007160, GO:0007160, GO:0007155, positive regulation of wound healing, spreading of epidermal cells, positive regulation of mesenchymal stem cell proliferation, protein localization to cell junction, positive regulation of protein localization to nucleus, protein localization to membrane, positive regulation of ERK1 and ERK2 cascade, negative regulation of cell death, positive regulation of protein kinase B signaling, positive regulation of focal adhesion assembly, positive regulation of stress fiber assembly, focal adhesion assembly, focal adhesion assembly, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, positive regulation of GTPase activity, negative regulation of vascular permeability, positive regulation of myosin light chain kinase activity, substrate adhesion-dependent cell spreading, adherens junction maintenance, cell junction assembly, positive regulation of integrin activation, integrin activation, positive regulation of cell migration, regulation of cell morphogenesis, Wnt signaling pathway, positive regulation of epithelial to mesenchymal transition, regulation of cell shape, integrin-mediated signaling pathway, transforming growth factor beta receptor signaling pathway, cell-matrix adhesion, cell-matrix adhesion, cell-matrix adhesion, cell adhesion, 2 0 0 8 0 0 0 1 0 ENSG00000073734 chr2 168915498 169031324 - ABCB11 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]. 8647 GO:0070062, GO:0055038, GO:0055037, GO:0046691, GO:0046581, GO:0016324, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005768, extracellular exosome, recycling endosome membrane, recycling endosome, intracellular canaliculus, intercellular canaliculus, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endosome, GO:0042626, GO:0016887, GO:0015432, GO:0015432, GO:0015432, GO:0015432, GO:0015126, GO:0015126, GO:0015126, GO:0015126, GO:0015125, GO:0015125, GO:0008559, GO:0008559, GO:0008554, GO:0005524, GO:0005515, GO:0005215, ATPase-coupled transmembrane transporter activity, ATPase activity, ATPase-coupled bile acid transmembrane transporter activity, ATPase-coupled bile acid transmembrane transporter activity, ATPase-coupled bile acid transmembrane transporter activity, ATPase-coupled bile acid transmembrane transporter activity, canalicular bile acid transmembrane transporter activity, canalicular bile acid transmembrane transporter activity, canalicular bile acid transmembrane transporter activity, canalicular bile acid transmembrane transporter activity, bile acid transmembrane transporter activity, bile acid transmembrane transporter activity, ATPase-coupled xenobiotic transmembrane transporter activity, ATPase-coupled xenobiotic transmembrane transporter activity, sodium transmembrane transporter activity, phosphorylative mechanism, ATP binding, protein binding, transporter activity, GO:1904251, GO:0120189, GO:0055091, GO:0055088, GO:0055085, GO:0046618, GO:0046618, GO:0042908, GO:0042632, GO:0035725, GO:0031998, GO:0017144, GO:0017144, GO:0016567, GO:0016567, GO:0015722, GO:0015722, GO:0015722, GO:0015722, GO:0015721, GO:0015721, GO:0015721, GO:0015721, GO:0008206, GO:0008206, GO:0008206, GO:0006855, GO:0006855, GO:0006699, GO:0006631, regulation of bile acid metabolic process, positive regulation of bile acid secretion, phospholipid homeostasis, lipid homeostasis, transmembrane transport, drug export, drug export, xenobiotic transport, cholesterol homeostasis, sodium ion transmembrane transport, regulation of fatty acid beta-oxidation, drug metabolic process, drug metabolic process, protein ubiquitination, protein ubiquitination, canalicular bile acid transport, canalicular bile acid transport, canalicular bile acid transport, canalicular bile acid transport, bile acid and bile salt transport, bile acid and bile salt transport, bile acid and bile salt transport, bile acid and bile salt transport, bile acid metabolic process, bile acid metabolic process, bile acid metabolic process, drug transmembrane transport, drug transmembrane transport, bile acid biosynthetic process, fatty acid metabolic process, 0 0 0 0 0 0 0 2 0 ENSG00000073737 chr2 169064789 169096167 + DHRS9 protein_coding This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 10170 GO:0030176, GO:0005789, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0047044, GO:0047035, GO:0047023, GO:0016854, GO:0004745, GO:0004022, androstan-3-alpha,17-beta-diol dehydrogenase activity, testosterone dehydrogenase (NAD+) activity, androsterone dehydrogenase activity, racemase and epimerase activity, retinol dehydrogenase activity, alcohol dehydrogenase (NAD+) activity, GO:0055114, GO:0042904, GO:0042572, GO:0042448, GO:0030855, GO:0008209, oxidation-reduction process, 9-cis-retinoic acid biosynthetic process, retinol metabolic process, progesterone metabolic process, epithelial cell differentiation, androgen metabolic process, 180 353 254 104 347 186 128 342 130 ENSG00000073754 chr1 157830914 157898256 - CD5L protein_coding 922 GO:0072562, GO:0009986, GO:0005886, GO:0005737, GO:0005615, GO:0005576, blood microparticle, cell surface, plasma membrane, cytoplasm, extracellular space, extracellular region, GO:0005044, GO:0004252, scavenger receptor activity, serine-type endopeptidase activity, GO:1903661, GO:0031638, GO:0030449, GO:0006968, GO:0006954, GO:0006915, GO:0006897, GO:0002376, positive regulation of complement-dependent cytotoxicity, zymogen activation, regulation of complement activation, cellular defense response, inflammatory response, apoptotic process, endocytosis, immune system process, 0 0 0 0 0 0 0 0 0 ENSG00000073756 chr1 186671791 186680427 - PTGS2 protein_coding Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]. 5743 GO:0043005, GO:0032991, GO:0005901, GO:0005789, GO:0005788, GO:0005783, GO:0005737, GO:0005737, GO:0005640, GO:0005637, neuron projection, protein-containing complex, caveola, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, cytoplasm, cytoplasm, nuclear outer membrane, nuclear inner membrane, GO:0046872, GO:0042803, GO:0020037, GO:0019899, GO:0016702, GO:0005515, GO:0004666, GO:0004601, metal ion binding, protein homodimerization activity, heme binding, enzyme binding, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, protein binding, prostaglandin-endoperoxide synthase activity, peroxidase activity, GO:1990776, GO:1902219, GO:0150077, GO:0098869, GO:0097756, GO:0090362, GO:0090336, GO:0090271, GO:0090050, GO:0071636, GO:0071498, GO:0071471, GO:0071456, GO:0071318, GO:0071284, GO:0071260, GO:0070542, GO:0055114, GO:0051968, GO:0051926, GO:0051384, GO:0050873, GO:0050727, GO:0048661, GO:0046697, GO:0045987, GO:0045986, GO:0045907, GO:0045786, GO:0045429, GO:0043154, GO:0043065, GO:0042759, GO:0042633, GO:0042493, GO:0042307, GO:0035633, GO:0034644, GO:0034612, GO:0034605, GO:0034356, GO:0033280, GO:0033138, GO:0032496, GO:0032355, GO:0032227, GO:0031915, GO:0031622, GO:0031394, GO:0030728, GO:0030282, GO:0019372, GO:0019371, GO:0019371, GO:0019233, GO:0019221, GO:0010575, GO:0010226, GO:0010042, GO:0009750, GO:0008285, GO:0008217, GO:0007613, GO:0007612, GO:0007568, GO:0007566, GO:0006979, GO:0006954, GO:0001525, GO:0001516, GO:0001516, GO:0001516, response to angiotensin, negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress, regulation of neuroinflammatory response, cellular oxidant detoxification, negative regulation of blood vessel diameter, positive regulation of platelet-derived growth factor production, positive regulation of brown fat cell differentiation, positive regulation of fibroblast growth factor production, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of transforming growth factor beta production, cellular response to fluid shear stress, cellular response to non-ionic osmotic stress, cellular response to hypoxia, cellular response to ATP, cellular response to lead ion, cellular response to mechanical stimulus, response to fatty acid, oxidation-reduction process, positive regulation of synaptic transmission, glutamatergic, negative regulation of calcium ion transport, response to glucocorticoid, brown fat cell differentiation, regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, decidualization, positive regulation of smooth muscle contraction, negative regulation of smooth muscle contraction, positive regulation of vasoconstriction, negative regulation of cell cycle, positive regulation of nitric oxide biosynthetic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, long-chain fatty acid biosynthetic process, hair cycle, response to drug, positive regulation of protein import into nucleus, maintenance of blood-brain barrier, cellular response to UV, response to tumor necrosis factor, cellular response to heat, NAD biosynthesis via nicotinamide riboside salvage pathway, response to vitamin D, positive regulation of peptidyl-serine phosphorylation, response to lipopolysaccharide, response to estradiol, negative regulation of synaptic transmission, dopaminergic, positive regulation of synaptic plasticity, positive regulation of fever generation, positive regulation of prostaglandin biosynthetic process, ovulation, bone mineralization, lipoxygenase pathway, cyclooxygenase pathway, cyclooxygenase pathway, sensory perception of pain, cytokine-mediated signaling pathway, positive regulation of vascular endothelial growth factor production, response to lithium ion, response to manganese ion, response to fructose, negative regulation of cell population proliferation, regulation of blood pressure, memory, learning, aging, embryo implantation, response to oxidative stress, inflammatory response, angiogenesis, prostaglandin biosynthetic process, prostaglandin biosynthetic process, prostaglandin biosynthetic process, 5569 8529 8387 28171 77240 75871 39056 69219 71824 ENSG00000073792 chr3 185643739 185825056 - IGF2BP2 protein_coding This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]. 10644 GO:0005856, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoskeleton, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0048027, GO:0045182, GO:0005515, GO:0003730, GO:0003730, GO:0003729, GO:0003723, mRNA 5'-UTR binding, translation regulator activity, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, GO:0051252, GO:0051028, GO:0043488, GO:0017148, GO:0010468, GO:0009653, GO:0007399, GO:0001817, regulation of RNA metabolic process, mRNA transport, regulation of mRNA stability, negative regulation of translation, regulation of gene expression, anatomical structure morphogenesis, nervous system development, regulation of cytokine production, 5 4 4 4 6 6 1 3 8 ENSG00000073803 chr3 185282941 185489097 + MAP3K13 protein_coding The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]. 9175 GO:0016020, GO:0005737, membrane, cytoplasm, GO:0106137, GO:0046872, GO:0042803, GO:0042802, GO:0019901, GO:0019899, GO:0005524, GO:0005515, GO:0004709, GO:0004706, GO:0004706, GO:0004674, GO:0004672, IkappaB kinase complex binding, metal ion binding, protein homodimerization activity, identical protein binding, protein kinase binding, enzyme binding, ATP binding, protein binding, MAP kinase kinase kinase activity, JUN kinase kinase kinase activity, JUN kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1905492, GO:0150012, GO:0051092, GO:0051092, GO:0046777, GO:0045773, GO:0018105, GO:0014042, GO:0007257, GO:0007257, GO:0007256, GO:0007254, GO:0006468, GO:0000186, positive regulation of branching morphogenesis of a nerve, positive regulation of neuron projection arborization, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, protein autophosphorylation, positive regulation of axon extension, peptidyl-serine phosphorylation, positive regulation of neuron maturation, activation of JUN kinase activity, activation of JUN kinase activity, activation of JNKK activity, JNK cascade, protein phosphorylation, activation of MAPKK activity, 109 372 276 101 328 237 112 240 149 ENSG00000073849 chr3 186930485 187078553 + ST6GAL1 protein_coding This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. 6480 GO:0032580, GO:0016021, GO:0005576, GO:0000139, GO:0000139, Golgi cisterna membrane, integral component of membrane, extracellular region, Golgi membrane, Golgi membrane, GO:0042803, GO:0008373, GO:0005515, GO:0003835, GO:0003835, GO:0003835, protein homodimerization activity, sialyltransferase activity, protein binding, beta-galactoside alpha-2,6-sialyltransferase activity, beta-galactoside alpha-2,6-sialyltransferase activity, beta-galactoside alpha-2,6-sialyltransferase activity, GO:0097503, GO:0018279, GO:0016266, GO:0006959, GO:0006054, sialylation, protein N-linked glycosylation via asparagine, O-glycan processing, humoral immune response, N-acetylneuraminate metabolic process, 261 248 375 422 229 498 316 226 378 ENSG00000073861 chr17 47733244 47746119 + TBX21 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]. 30009 GO:0043025, GO:0005634, GO:0000785, neuronal cell body, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000552, GO:2000329, GO:2000320, GO:0072676, GO:0072676, GO:0071310, GO:0048304, GO:0045893, GO:0045892, GO:0045580, GO:0043161, GO:0032703, GO:0030217, GO:0009615, GO:0007275, GO:0006357, GO:0006355, GO:0001947, GO:0001708, GO:0000122, negative regulation of T-helper 2 cell cytokine production, negative regulation of T-helper 17 cell lineage commitment, negative regulation of T-helper 17 cell differentiation, lymphocyte migration, lymphocyte migration, cellular response to organic substance, positive regulation of isotype switching to IgG isotypes, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of T cell differentiation, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of interleukin-2 production, T cell differentiation, response to virus, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, heart looping, cell fate specification, negative regulation of transcription by RNA polymerase II, 34 30 102 111 48 208 84 50 163 ENSG00000073905 chrX 80929500 80930347 + VDAC1P1 processed_pseudogene 1 2 1 4 0 1 7 0 3 ENSG00000073910 chr13 31846713 32299122 + FRY protein_coding 10129 GO:0030427, GO:0005938, GO:0005815, GO:0000922, site of polarized growth, cell cortex, microtubule organizing center, spindle pole, GO:0004857, enzyme inhibitor activity, GO:1904428, GO:0043086, GO:0031175, GO:0000902, negative regulation of tubulin deacetylation, negative regulation of catalytic activity, neuron projection development, cell morphogenesis, 2844 2288 3346 1856 2062 2635 2164 1496 2078 ENSG00000073921 chr11 85957684 86069882 - PICALM protein_coding This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 8301 GO:0098894, GO:0097418, GO:0070381, GO:0048471, GO:0045334, GO:0045211, GO:0043231, GO:0043025, GO:0042734, GO:0031982, GO:0031224, GO:0030136, GO:0030136, GO:0030132, GO:0030122, GO:0016020, GO:0009986, GO:0008021, GO:0005905, GO:0005905, GO:0005905, GO:0005886, GO:0005829, GO:0005794, GO:0005769, GO:0005634, extrinsic component of presynaptic endocytic zone membrane, neurofibrillary tangle, endosome to plasma membrane transport vesicle, perinuclear region of cytoplasm, clathrin-coated endocytic vesicle, postsynaptic membrane, intracellular membrane-bounded organelle, neuronal cell body, presynaptic membrane, vesicle, intrinsic component of membrane, clathrin-coated vesicle, clathrin-coated vesicle, clathrin coat of coated pit, AP-2 adaptor complex, membrane, cell surface, synaptic vesicle, clathrin-coated pit, clathrin-coated pit, clathrin-coated pit, plasma membrane, cytosol, Golgi apparatus, early endosome, nucleus, GO:0050750, GO:0048156, GO:0045296, GO:0032050, GO:0032050, GO:0031267, GO:0030276, GO:0005546, GO:0005546, GO:0005545, GO:0005545, GO:0005515, GO:0001540, GO:0000149, GO:0000149, low-density lipoprotein particle receptor binding, tau protein binding, cadherin binding, clathrin heavy chain binding, clathrin heavy chain binding, small GTPase binding, clathrin binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, 1-phosphatidylinositol binding, 1-phosphatidylinositol binding, protein binding, amyloid-beta binding, SNARE binding, SNARE binding, GO:2000009, GO:1905224, GO:1903077, GO:1902963, GO:1902961, GO:1902959, GO:1902004, GO:1902003, GO:1901216, GO:0150093, GO:0150093, GO:0097753, GO:0097494, GO:0090647, GO:0072583, GO:0072583, GO:0065003, GO:0061024, GO:0055072, GO:0048813, GO:0048268, GO:0048261, GO:0045893, GO:0043547, GO:0035459, GO:0032880, GO:0031623, GO:0030100, GO:0030097, GO:0016197, GO:0016192, GO:0016188, GO:0016185, GO:0010629, GO:0007611, GO:0007409, GO:0006900, GO:0006900, GO:0006898, GO:0006897, negative regulation of protein localization to cell surface, clathrin-coated pit assembly, negative regulation of protein localization to plasma membrane, negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process, positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, positive regulation of amyloid-beta formation, regulation of amyloid-beta formation, positive regulation of neuron death, amyloid-beta clearance by transcytosis, amyloid-beta clearance by transcytosis, membrane bending, regulation of vesicle size, modulation of age-related behavioral decline, clathrin-dependent endocytosis, clathrin-dependent endocytosis, protein-containing complex assembly, membrane organization, iron ion homeostasis, dendrite morphogenesis, clathrin coat assembly, negative regulation of receptor-mediated endocytosis, positive regulation of transcription, DNA-templated, positive regulation of GTPase activity, vesicle cargo loading, regulation of protein localization, receptor internalization, regulation of endocytosis, hemopoiesis, endosomal transport, vesicle-mediated transport, synaptic vesicle maturation, synaptic vesicle budding from presynaptic endocytic zone membrane, negative regulation of gene expression, learning or memory, axonogenesis, vesicle budding from membrane, vesicle budding from membrane, receptor-mediated endocytosis, endocytosis, 10173 8872 10088 6097 9072 8500 8239 7404 7797 ENSG00000073969 chr17 46590669 46757464 + NSF protein_coding 4905 GO:0043198, GO:0014069, GO:0005886, GO:0005829, GO:0005829, GO:0005795, GO:0005795, GO:0005765, GO:0000139, dendritic shaft, postsynaptic density, plasma membrane, cytosol, cytosol, Golgi stack, Golgi stack, lysosomal membrane, Golgi membrane, GO:0046872, GO:0044877, GO:0044877, GO:0035255, GO:0031267, GO:0030165, GO:0019901, GO:0017075, GO:0016887, GO:0016887, GO:0016887, GO:0005524, GO:0005515, GO:0000149, metal ion binding, protein-containing complex binding, protein-containing complex binding, ionotropic glutamate receptor binding, small GTPase binding, PDZ domain binding, protein kinase binding, syntaxin-1 binding, ATPase activity, ATPase activity, ATPase activity, ATP binding, protein binding, SNARE binding, GO:0048211, GO:0048208, GO:0045732, GO:0045026, GO:0043001, GO:0035494, GO:0017157, GO:0016192, GO:0006891, GO:0006890, GO:0006888, GO:0006887, GO:0006886, GO:0006813, GO:0001921, Golgi vesicle docking, COPII vesicle coating, positive regulation of protein catabolic process, plasma membrane fusion, Golgi to plasma membrane protein transport, SNARE complex disassembly, regulation of exocytosis, vesicle-mediated transport, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, exocytosis, intracellular protein transport, potassium ion transport, positive regulation of receptor recycling, 1 3 2 17 1 3 0 8 17 ENSG00000074047 chr2 120735623 120992653 + GLI2 protein_coding This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]. 2736 GO:0097546, GO:0097542, GO:0031514, GO:0016607, GO:0016020, GO:0005930, GO:0005929, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, ciliary base, ciliary tip, motile cilium, nuclear speck, membrane, axoneme, cilium, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990841, GO:1990837, GO:0043565, GO:0008270, GO:0008134, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000978, GO:0000978, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, zinc ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901620, GO:0090103, GO:0071407, GO:0060831, GO:0060603, GO:0060513, GO:0060032, GO:0048754, GO:0048666, GO:0048589, GO:0048566, GO:0045944, GO:0045893, GO:0045740, GO:0045666, GO:0043066, GO:0042733, GO:0042475, GO:0035295, GO:0033089, GO:0032331, GO:0031069, GO:0030902, GO:0030879, GO:0030324, GO:0021983, GO:0021965, GO:0021938, GO:0021776, GO:0021775, GO:0021696, GO:0021517, GO:0021513, GO:0021508, GO:0009954, GO:0009952, GO:0007507, GO:0007442, GO:0007418, GO:0007411, GO:0007389, GO:0007224, GO:0007224, GO:0006357, GO:0002076, GO:0002062, GO:0001822, GO:0001701, GO:0001501, GO:0000122, regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, cochlea morphogenesis, cellular response to organic cyclic compound, smoothened signaling pathway involved in dorsal/ventral neural tube patterning, mammary gland duct morphogenesis, prostatic bud formation, notochord regression, branching morphogenesis of an epithelial tube, neuron development, developmental growth, embryonic digestive tract development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of DNA replication, positive regulation of neuron differentiation, negative regulation of apoptotic process, embryonic digit morphogenesis, odontogenesis of dentin-containing tooth, tube development, positive regulation of T cell differentiation in thymus, negative regulation of chondrocyte differentiation, hair follicle morphogenesis, hindbrain development, mammary gland development, lung development, pituitary gland development, spinal cord ventral commissure morphogenesis, smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation, smoothened signaling pathway involved in spinal cord motor neuron cell fate specification, smoothened signaling pathway involved in ventral spinal cord interneuron specification, cerebellar cortex morphogenesis, ventral spinal cord development, spinal cord dorsal/ventral patterning, floor plate formation, proximal/distal pattern formation, anterior/posterior pattern specification, heart development, hindgut morphogenesis, ventral midline development, axon guidance, pattern specification process, smoothened signaling pathway, smoothened signaling pathway, regulation of transcription by RNA polymerase II, osteoblast development, chondrocyte differentiation, kidney development, in utero embryonic development, skeletal system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000074054 chr2 121337776 121649587 - CLASP1 protein_coding CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]. 23332 GO:0072686, GO:0045180, GO:0045180, GO:0035371, GO:0031592, GO:0030981, GO:0016020, GO:0005938, GO:0005925, GO:0005881, GO:0005881, GO:0005876, GO:0005876, GO:0005829, GO:0005828, GO:0005815, GO:0005813, GO:0005794, GO:0000777, GO:0000776, GO:0000776, mitotic spindle, basal cortex, basal cortex, microtubule plus-end, centrosomal corona, cortical microtubule cytoskeleton, membrane, cell cortex, focal adhesion, cytoplasmic microtubule, cytoplasmic microtubule, spindle microtubule, spindle microtubule, cytosol, kinetochore microtubule, microtubule organizing center, centrosome, Golgi apparatus, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0051010, GO:0043515, GO:0043515, GO:0008017, GO:0008017, GO:0008017, GO:0005515, GO:0002162, microtubule plus-end binding, kinetochore binding, kinetochore binding, microtubule binding, microtubule binding, microtubule binding, protein binding, dystroglycan binding, GO:1904261, GO:1904261, GO:1903690, GO:0097711, GO:0090307, GO:0090307, GO:0090162, GO:0090091, GO:0070507, GO:0051893, GO:0051497, GO:0051301, GO:0051294, GO:0051294, GO:0051294, GO:0045921, GO:0040001, GO:0040001, GO:0034453, GO:0031116, GO:0031111, GO:0031110, GO:0031023, GO:0030953, GO:0010717, GO:0010634, GO:0010470, GO:0010458, GO:0010389, GO:0007163, GO:0007052, GO:0007030, GO:0007026, GO:0007026, GO:0007020, GO:0006903, GO:0001578, GO:0000226, GO:0000226, GO:0000226, GO:0000086, positive regulation of basement membrane assembly involved in embryonic body morphogenesis, positive regulation of basement membrane assembly involved in embryonic body morphogenesis, negative regulation of wound healing, spreading of epidermal cells, ciliary basal body-plasma membrane docking, mitotic spindle assembly, mitotic spindle assembly, establishment of epithelial cell polarity, positive regulation of extracellular matrix disassembly, regulation of microtubule cytoskeleton organization, regulation of focal adhesion assembly, negative regulation of stress fiber assembly, cell division, establishment of spindle orientation, establishment of spindle orientation, establishment of spindle orientation, positive regulation of exocytosis, establishment of mitotic spindle localization, establishment of mitotic spindle localization, microtubule anchoring, positive regulation of microtubule polymerization, negative regulation of microtubule polymerization or depolymerization, regulation of microtubule polymerization or depolymerization, microtubule organizing center organization, astral microtubule organization, regulation of epithelial to mesenchymal transition, positive regulation of epithelial cell migration, regulation of gastrulation, exit from mitosis, regulation of G2/M transition of mitotic cell cycle, establishment or maintenance of cell polarity, mitotic spindle organization, Golgi organization, negative regulation of microtubule depolymerization, negative regulation of microtubule depolymerization, microtubule nucleation, vesicle targeting, microtubule bundle formation, microtubule cytoskeleton organization, microtubule cytoskeleton organization, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 667 631 912 478 527 607 480 407 463 ENSG00000074071 chr16 1771890 1773155 - MRPS34 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 65993 GO:0005763, GO:0005763, GO:0005743, GO:0005739, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003735, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, GO:0032543, GO:0032543, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, mitochondrial translation, mitochondrial translation, 28 33 46 36 60 51 51 37 30 ENSG00000074181 chr19 15159038 15200981 - NOTCH3 protein_coding This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]. 4854 GO:0043235, GO:0043235, GO:0016021, GO:0015629, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005789, GO:0005654, GO:0005654, GO:0005576, GO:0000139, receptor complex, receptor complex, integral component of membrane, actin cytoskeleton, cell surface, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, endoplasmic reticulum membrane, nucleoplasm, nucleoplasm, extracellular region, Golgi membrane, GO:0045296, GO:0042802, GO:0038023, GO:0019899, GO:0005515, GO:0005509, cadherin binding, identical protein binding, signaling receptor activity, enzyme binding, protein binding, calcium ion binding, GO:0072104, GO:0048844, GO:0048663, GO:0048661, GO:0045746, GO:0045665, GO:0030900, GO:0007411, GO:0007221, GO:0007219, GO:0007219, GO:0006367, GO:0000122, glomerular capillary formation, artery morphogenesis, neuron fate commitment, positive regulation of smooth muscle cell proliferation, negative regulation of Notch signaling pathway, negative regulation of neuron differentiation, forebrain development, axon guidance, positive regulation of transcription of Notch receptor target, Notch signaling pathway, Notch signaling pathway, transcription initiation from RNA polymerase II promoter, negative regulation of transcription by RNA polymerase II, 1 1 3 0 1 0 6 3 0 ENSG00000074201 chr11 77514936 77637805 - CLNS1A protein_coding This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. 1207 GO:0034715, GO:0034709, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005654, GO:0005634, pICln-Sm protein complex, methylosome, plasma membrane, cytoskeleton, cytosol, cytosol, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006884, GO:0006821, GO:0000387, GO:0000387, cell volume homeostasis, chloride transport, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 41 22 66 129 50 128 61 56 72 ENSG00000074211 chr4 6320578 6563600 - PPP2R2C protein_coding The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 5522 GO:0005829, GO:0000159, GO:0000159, cytosol, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0019888, GO:0019888, GO:0005515, protein phosphatase regulator activity, protein phosphatase regulator activity, protein binding, GO:0070262, GO:0043666, peptidyl-serine dephosphorylation, regulation of phosphoprotein phosphatase activity, 0 0 0 0 0 0 0 0 0 ENSG00000074219 chr19 49340595 49362457 - TEAD2 protein_coding 8463 GO:0043231, GO:0005829, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, cytosol, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0097718, GO:0005515, GO:0003700, GO:0003700, GO:0003700, GO:0001223, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, disordered domain specific binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, transcription coactivator binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000736, GO:0071300, GO:0065003, GO:0060548, GO:0048568, GO:0048368, GO:0048339, GO:0045893, GO:0035329, GO:0035329, GO:0030903, GO:0006367, GO:0006357, GO:0006355, GO:0003143, GO:0001843, GO:0001570, regulation of stem cell differentiation, cellular response to retinoic acid, protein-containing complex assembly, negative regulation of cell death, embryonic organ development, lateral mesoderm development, paraxial mesoderm development, positive regulation of transcription, DNA-templated, hippo signaling, hippo signaling, notochord development, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, embryonic heart tube morphogenesis, neural tube closure, vasculogenesis, 1 2 7 14 14 20 4 0 5 ENSG00000074266 chr11 86244544 86278813 + EED protein_coding This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 8726 GO:0045120, GO:0035098, GO:0035098, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0001739, pronucleus, ESC/E(Z) complex, ESC/E(Z) complex, cytosol, nucleoplasm, nucleoplasm, nucleus, sex chromatin, GO:0046976, GO:0046976, GO:0042802, GO:0042054, GO:0042054, GO:0031491, GO:0005515, GO:0001226, GO:0000978, histone methyltransferase activity (H3-K27 specific), histone methyltransferase activity (H3-K27 specific), identical protein binding, histone methyltransferase activity, histone methyltransferase activity, nucleosome binding, protein binding, RNA polymerase II transcription corepressor binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000011, GO:1990830, GO:0070734, GO:0070317, GO:0061087, GO:0045892, GO:0045814, GO:0021510, GO:0016032, GO:0006349, GO:0006342, GO:0000122, regulation of adaxial/abaxial pattern formation, cellular response to leukemia inhibitory factor, histone H3-K27 methylation, negative regulation of G0 to G1 transition, positive regulation of histone H3-K27 methylation, negative regulation of transcription, DNA-templated, negative regulation of gene expression, epigenetic, spinal cord development, viral process, regulation of gene expression by genetic imprinting, chromatin silencing, negative regulation of transcription by RNA polymerase II, 72 62 89 72 62 78 84 40 92 ENSG00000074276 chr5 176542511 176595974 + CDHR2 protein_coding This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]. 54825 GO:0070062, GO:0044214, GO:0031528, GO:0031526, GO:0030054, GO:0016324, GO:0005903, extracellular exosome, spanning component of plasma membrane, microvillus membrane, brush border membrane, cell junction, apical plasma membrane, brush border, GO:0050839, GO:0050839, GO:0005515, GO:0005509, cell adhesion molecule binding, cell adhesion molecule binding, protein binding, calcium ion binding, GO:0098609, GO:0090675, GO:0060243, GO:0044331, GO:0032532, GO:0030855, GO:0007156, cell-cell adhesion, intermicrovillar adhesion, negative regulation of cell growth involved in contact inhibition, cell-cell adhesion mediated by cadherin, regulation of microvillus length, epithelial cell differentiation, homophilic cell adhesion via plasma membrane adhesion molecules, 3 5 2 0 1 19 6 6 12 ENSG00000074317 chr5 176620084 176630556 - SNCB protein_coding This gene encodes a member of a small family of proteins that inhibit phospholipase D2 and may function in neuronal plasticity. The encoded protein is abundant in lesions of patients with Alzheimer disease. A mutation in this gene was found in individuals with dementia with Lewy bodies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 6620 GO:0043679, GO:0043025, GO:0016234, GO:0005829, GO:0005737, axon terminus, neuronal cell body, inclusion body, cytosol, cytoplasm, GO:1903136, GO:1903136, GO:0046914, GO:0005515, GO:0005509, GO:0004859, cuprous ion binding, cuprous ion binding, transition metal ion binding, protein binding, calcium ion binding, phospholipase inhibitor activity, GO:1901214, GO:0050808, GO:0048488, GO:0043524, GO:0043086, GO:0042417, GO:0010038, GO:0007268, regulation of neuron death, synapse organization, synaptic vesicle endocytosis, negative regulation of neuron apoptotic process, negative regulation of catalytic activity, dopamine metabolic process, response to metal ion, chemical synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000074319 chr11 18468336 18527232 - TSG101 protein_coding The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]. 7251 GO:0090543, GO:0070062, GO:0070062, GO:0043657, GO:0031902, GO:0031901, GO:0010008, GO:0005886, GO:0005829, GO:0005815, GO:0005771, GO:0005770, GO:0005769, GO:0005768, GO:0005737, GO:0005737, GO:0005730, GO:0000813, GO:0000813, Flemming body, extracellular exosome, extracellular exosome, host cell, late endosome membrane, early endosome membrane, endosome membrane, plasma membrane, cytosol, microtubule organizing center, multivesicular body, late endosome, early endosome, endosome, cytoplasm, cytoplasm, nucleolus, ESCRT I complex, ESCRT I complex, GO:0048306, GO:0046790, GO:0044877, GO:0043130, GO:0043130, GO:0042803, GO:0031625, GO:0030374, GO:0005515, GO:0003714, GO:0003677, calcium-dependent protein binding, virion binding, protein-containing complex binding, ubiquitin binding, ubiquitin binding, protein homodimerization activity, ubiquitin protein ligase binding, nuclear receptor coactivator activity, protein binding, transcription corepressor activity, DNA binding, GO:2000397, GO:1990182, GO:1903774, GO:1903551, GO:1903543, GO:1903508, GO:1902188, GO:1902186, GO:0097352, GO:0075733, GO:0051301, GO:0046755, GO:0046755, GO:0043405, GO:0043162, GO:0043162, GO:0043162, GO:0042059, GO:0039702, GO:0036258, GO:0030216, GO:0019058, GO:0016236, GO:0016197, GO:0015031, GO:0008333, GO:0008285, GO:0007175, GO:0007050, GO:0006858, GO:0006513, GO:0001558, GO:0000122, positive regulation of ubiquitin-dependent endocytosis, exosomal secretion, positive regulation of viral budding via host ESCRT complex, regulation of extracellular exosome assembly, positive regulation of exosomal secretion, positive regulation of nucleic acid-templated transcription, positive regulation of viral release from host cell, regulation of viral release from host cell, autophagosome maturation, intracellular transport of virus, cell division, viral budding, viral budding, regulation of MAP kinase activity, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, negative regulation of epidermal growth factor receptor signaling pathway, viral budding via host ESCRT complex, multivesicular body assembly, keratinocyte differentiation, viral life cycle, macroautophagy, endosomal transport, protein transport, endosome to lysosome transport, negative regulation of cell population proliferation, negative regulation of epidermal growth factor-activated receptor activity, cell cycle arrest, extracellular transport, protein monoubiquitination, regulation of cell growth, negative regulation of transcription by RNA polymerase II, 1240 1108 1461 413 525 456 429 482 352 ENSG00000074356 chr17 3802165 3846251 - NCBP3 protein_coding 55421 GO:0034518, GO:0016607, GO:0005737, GO:0005634, GO:0005634, RNA cap binding complex, nuclear speck, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003729, GO:0003729, GO:0003723, GO:0000340, GO:0000339, protein binding, mRNA binding, mRNA binding, RNA binding, RNA 7-methylguanosine cap binding, RNA cap binding, GO:0051607, GO:0051028, GO:0006370, defense response to virus, mRNA transport, 7-methylguanosine mRNA capping, 849 890 794 770 934 788 915 739 630 ENSG00000074370 chr17 3923870 3964464 - ATP2A3 protein_coding This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 489 GO:0033017, GO:0031965, GO:0031095, GO:0031090, GO:0016529, GO:0016021, GO:0005789, GO:0005783, sarcoplasmic reticulum membrane, nuclear membrane, platelet dense tubular network membrane, organelle membrane, sarcoplasmic reticulum, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0046872, GO:0044325, GO:0030899, GO:0016887, GO:0015085, GO:0008656, GO:0008553, GO:0005524, GO:0005388, GO:0005388, metal ion binding, ion channel binding, calcium-dependent ATPase activity, ATPase activity, calcium ion transmembrane transporter activity, cysteine-type endopeptidase activator activity involved in apoptotic process, proton-exporting ATPase activity, phosphorylative mechanism, ATP binding, calcium transmembrane transporter activity, phosphorylative mechanism, calcium transmembrane transporter activity, phosphorylative mechanism, GO:1903779, GO:1903515, GO:1902600, GO:1900121, GO:0150104, GO:0070588, GO:0070588, GO:0070059, GO:0034220, GO:0006919, GO:0006874, GO:0006874, GO:0006816, regulation of cardiac conduction, calcium ion transport from cytosol to endoplasmic reticulum, proton transmembrane transport, negative regulation of receptor binding, transport across blood-brain barrier, calcium ion transmembrane transport, calcium ion transmembrane transport, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, ion transmembrane transport, activation of cysteine-type endopeptidase activity involved in apoptotic process, cellular calcium ion homeostasis, cellular calcium ion homeostasis, calcium ion transport, 3095 3884 4765 2022 2871 2913 2200 2342 2615 ENSG00000074410 chr15 63321378 63382161 - CA12 protein_coding Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]. 771 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0016836, GO:0008270, GO:0004089, hydro-lyase activity, zinc ion binding, carbonate dehydratase activity, GO:0055064, GO:0015701, GO:0006730, chloride ion homeostasis, bicarbonate transport, one-carbon metabolic process, 7 9 4 5 2 10 3 4 12 ENSG00000074416 chr3 127689062 128052190 - MGLL protein_coding This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 11343 GO:0019898, GO:0016020, GO:0005886, GO:0005829, GO:0005789, GO:0005654, extrinsic component of membrane, membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, nucleoplasm, GO:0047372, GO:0047372, GO:0047372, GO:0047372, GO:0042803, GO:0016298, GO:0005515, GO:0004622, acylglycerol lipase activity, acylglycerol lipase activity, acylglycerol lipase activity, acylglycerol lipase activity, protein homodimerization activity, lipase activity, protein binding, lysophospholipase activity, GO:2000124, GO:0052651, GO:0051930, GO:0050727, GO:0046464, GO:0046464, GO:0036155, GO:0019433, GO:0019369, GO:0009966, GO:0006954, GO:0006633, GO:0006629, regulation of endocannabinoid signaling pathway, monoacylglycerol catabolic process, regulation of sensory perception of pain, regulation of inflammatory response, acylglycerol catabolic process, acylglycerol catabolic process, acylglycerol acyl-chain remodeling, triglyceride catabolic process, arachidonic acid metabolic process, regulation of signal transduction, inflammatory response, fatty acid biosynthetic process, lipid metabolic process, 4 10 6 8 13 14 6 9 4 ENSG00000074527 chr12 95657807 95791152 - NTN4 protein_coding This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 59277 GO:0043256, GO:0005886, laminin complex, plasma membrane, GO:0043237, GO:0005515, laminin-1 binding, protein binding, GO:0070831, GO:0060668, GO:0034446, GO:0016477, GO:0016322, GO:0009888, GO:0009887, GO:0007411, basement membrane assembly, regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling, substrate adhesion-dependent cell spreading, cell migration, neuron remodeling, tissue development, animal organ morphogenesis, axon guidance, 7 7 26 1 0 11 5 6 6 ENSG00000074582 chr2 218658764 218663443 + BCS1L protein_coding This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]. 617 GO:0016021, GO:0005750, GO:0005743, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex III, mitochondrial inner membrane, mitochondrion, GO:0016887, GO:0005524, GO:0005515, ATPase activity, ATP binding, protein binding, GO:0034551, GO:0034551, GO:0033617, GO:0032981, GO:0032979, GO:0007005, mitochondrial respiratory chain complex III assembly, mitochondrial respiratory chain complex III assembly, mitochondrial cytochrome c oxidase assembly, mitochondrial respiratory chain complex I assembly, protein insertion into mitochondrial inner membrane from matrix, mitochondrion organization, 25 24 37 33 35 30 33 26 48 ENSG00000074590 chr12 106063340 106140033 - NUAK1 protein_coding 9891 GO:0015630, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, microtubule cytoskeleton, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0002039, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, p53 binding, GO:2000772, GO:1901796, GO:0042149, GO:0042127, GO:0035556, GO:0035507, GO:0030155, GO:0007155, GO:0006974, GO:0006468, GO:0006468, regulation of cellular senescence, regulation of signal transduction by p53 class mediator, cellular response to glucose starvation, regulation of cell population proliferation, intracellular signal transduction, regulation of myosin-light-chain-phosphatase activity, regulation of cell adhesion, cell adhesion, cellular response to DNA damage stimulus, protein phosphorylation, protein phosphorylation, 0 2 3 0 0 17 3 1 3 ENSG00000074603 chr15 65442463 65517704 - DPP8 protein_coding This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 54878 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0008239, GO:0008236, dipeptidyl-peptidase activity, serine-type peptidase activity, GO:0006955, GO:0006915, GO:0006508, immune response, apoptotic process, proteolysis, 455 488 519 246 425 355 265 325 342 ENSG00000074621 chr15 65611366 65660995 + SLC24A1 protein_coding This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 9187 GO:0044214, GO:0043025, GO:0019867, GO:0016020, GO:0005887, GO:0005886, GO:0005886, spanning component of plasma membrane, neuronal cell body, outer membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015293, GO:0008273, GO:0008273, GO:0008273, GO:0008273, GO:0005515, GO:0005262, symporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, protein binding, calcium channel activity, GO:0098703, GO:0098656, GO:0071805, GO:0070588, GO:0070588, GO:0060292, GO:0060291, GO:0035725, GO:0009642, GO:0007601, GO:0006874, GO:0006874, GO:0006816, GO:0006811, calcium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, calcium ion transmembrane transport, calcium ion transmembrane transport, long-term synaptic depression, long-term synaptic potentiation, sodium ion transmembrane transport, response to light intensity, visual perception, cellular calcium ion homeostasis, cellular calcium ion homeostasis, calcium ion transport, ion transport, 40 50 39 39 60 59 58 48 53 ENSG00000074657 chr18 58862600 58986480 + ZNF532 protein_coding 55205 GO:0005634, nucleus, GO:0046872, GO:0003677, metal ion binding, DNA binding, 7 12 7 23 2 31 15 16 15 ENSG00000074660 chr17 1633858 1645747 - SCARF1 protein_coding The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. 8578 GO:0030666, GO:0016021, GO:0005886, endocytic vesicle membrane, integral component of membrane, plasma membrane, GO:0030169, GO:0030169, GO:0005515, GO:0005044, GO:0004888, low-density lipoprotein particle binding, low-density lipoprotein particle binding, protein binding, scavenger receptor activity, transmembrane signaling receptor activity, GO:0048680, GO:0016358, GO:0016322, GO:0010976, GO:0010976, GO:0007155, GO:0006898, GO:0006707, positive regulation of axon regeneration, dendrite development, neuron remodeling, positive regulation of neuron projection development, positive regulation of neuron projection development, cell adhesion, receptor-mediated endocytosis, cholesterol catabolic process, 1 0 0 0 0 0 0 0 0 ENSG00000074695 chr18 59327823 59359962 - LMAN1 protein_coding The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]. 3998 GO:0070062, GO:0062023, GO:0033116, GO:0030134, GO:0030017, GO:0016021, GO:0016020, GO:0012507, GO:0005829, GO:0005793, GO:0005793, GO:0005789, GO:0005789, GO:0005783, GO:0000139, extracellular exosome, collagen-containing extracellular matrix, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, sarcomere, integral component of membrane, membrane, ER to Golgi transport vesicle membrane, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0051082, GO:0046872, GO:0005537, GO:0005515, unfolded protein binding, metal ion binding, mannose binding, protein binding, GO:1903215, GO:0048208, GO:0034498, GO:0032527, GO:0018279, GO:0010638, GO:0007596, GO:0007030, GO:0007030, GO:0007029, GO:0006888, GO:0006888, GO:0006457, negative regulation of protein targeting to mitochondrion, COPII vesicle coating, early endosome to Golgi transport, protein exit from endoplasmic reticulum, protein N-linked glycosylation via asparagine, positive regulation of organelle organization, blood coagulation, Golgi organization, Golgi organization, endoplasmic reticulum organization, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein folding, 51 45 128 140 69 208 127 49 117 ENSG00000074696 chr15 65530418 65578352 + HACD3 protein_coding 51495 GO:0031965, GO:0030176, GO:0005925, GO:0005783, nuclear membrane, integral component of endoplasmic reticulum membrane, focal adhesion, endoplasmic reticulum, GO:0102345, GO:0102344, GO:0102343, GO:0102158, GO:0019899, GO:0018812, GO:0018812, GO:0005515, GO:0005096, 3-hydroxy-lignoceroyl-CoA dehydratase activity, 3-hydroxy-behenoyl-CoA dehydratase activity, 3-hydroxy-arachidoyl-CoA dehydratase activity, very-long-chain 3-hydroxyacyl-CoA dehydratase activity, enzyme binding, 3-hydroxyacyl-CoA dehydratase activity, 3-hydroxyacyl-CoA dehydratase activity, protein binding, GTPase activator activity, GO:0046726, GO:0045070, GO:0043547, GO:0042761, GO:0042761, GO:0030497, GO:0030497, GO:0030148, GO:0016601, GO:0007266, GO:0007264, GO:0007257, GO:0007249, positive regulation by virus of viral protein levels in host cell, positive regulation of viral genome replication, positive regulation of GTPase activity, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, fatty acid elongation, fatty acid elongation, sphingolipid biosynthetic process, Rac protein signal transduction, Rho protein signal transduction, small GTPase mediated signal transduction, activation of JUN kinase activity, I-kappaB kinase/NF-kappaB signaling, 14 22 43 48 18 28 24 5 14 ENSG00000074706 chr6 154154496 154356792 - IPCEF1 protein_coding 26034 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0005515, GO:0005344, GO:0004601, protein binding, oxygen carrier activity, peroxidase activity, GO:0098869, GO:0015671, GO:0006979, cellular oxidant detoxification, oxygen transport, response to oxidative stress, 480 664 688 477 783 780 519 562 571 ENSG00000074755 chr17 4004445 4143020 - ZZEF1 protein_coding 23140 GO:0008270, GO:0005509, zinc ion binding, calcium ion binding, 2304 2730 2834 1401 2266 1952 1670 1745 1572 ENSG00000074771 chr6 155395370 155455903 - NOX3 protein_coding This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]. 50508 GO:0070062, GO:0043020, GO:0005886, GO:0005886, GO:0005737, extracellular exosome, NADPH oxidase complex, plasma membrane, plasma membrane, cytoplasm, GO:0016175, GO:0005515, superoxide-generating NAD(P)H oxidase activity, protein binding, GO:0055114, GO:0048840, GO:0042554, GO:0009590, GO:0006952, GO:0001659, oxidation-reduction process, otolith development, superoxide anion generation, detection of gravity, defense response, temperature homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000074800 chr1 8861000 8879250 - ENO1 protein_coding This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]. 2023 GO:0099738, GO:0070062, GO:0031430, GO:0016020, GO:0016020, GO:0009986, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005615, GO:0000015, GO:0000015, cell cortex region, extracellular exosome, M band, membrane, membrane, cell surface, plasma membrane, cytosol, cytosol, cytoplasm, nucleus, nucleus, extracellular space, phosphopyruvate hydratase complex, phosphopyruvate hydratase complex, GO:0051020, GO:0045296, GO:0042803, GO:0005515, GO:0004634, GO:0004634, GO:0004634, GO:0003723, GO:0001227, GO:0000977, GO:0000287, GTPase binding, cadherin binding, protein homodimerization activity, protein binding, phosphopyruvate hydratase activity, phosphopyruvate hydratase activity, phosphopyruvate hydratase activity, RNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, magnesium ion binding, GO:2001171, GO:2001171, GO:1903298, GO:1903298, GO:0061621, GO:0061621, GO:0061621, GO:0045933, GO:0045892, GO:0045892, GO:0032889, GO:0030308, GO:0010756, GO:0009615, GO:0006096, GO:0006094, GO:0000122, positive regulation of ATP biosynthetic process, positive regulation of ATP biosynthetic process, negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway, negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway, canonical glycolysis, canonical glycolysis, canonical glycolysis, positive regulation of muscle contraction, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of vacuole fusion, non-autophagic, negative regulation of cell growth, positive regulation of plasminogen activation, response to virus, glycolytic process, gluconeogenesis, negative regulation of transcription by RNA polymerase II, 916 852 1784 815 649 1020 726 537 802 ENSG00000074803 chr15 48178438 48304078 + SLC12A1 protein_coding This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]. 6557 GO:0070062, GO:0070062, GO:0016324, GO:0016021, GO:0016020, GO:0005886, extracellular exosome, extracellular exosome, apical plasma membrane, integral component of membrane, membrane, plasma membrane, GO:0015379, GO:0008511, potassium:chloride symporter activity, sodium:potassium:chloride symporter activity, GO:1990573, GO:1902476, GO:0055078, GO:0055075, GO:0055064, GO:0035725, GO:0034220, GO:0006884, GO:0006811, potassium ion import across plasma membrane, chloride transmembrane transport, sodium ion homeostasis, potassium ion homeostasis, chloride ion homeostasis, sodium ion transmembrane transport, ion transmembrane transport, cell volume homeostasis, ion transport, 48 54 70 104 104 106 127 58 89 ENSG00000074842 chr19 4641374 4670370 - MYDGF protein_coding The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008]. 56005 GO:0005794, GO:0005793, GO:0005788, GO:0005783, GO:0005615, GO:0005615, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, extracellular space, GO:0005515, protein binding, GO:0051897, GO:0045944, GO:0045766, GO:0045766, GO:0043410, GO:0043066, GO:0036498, GO:0014068, GO:0006915, GO:0001938, GO:0001938, GO:0001934, GO:0001525, positive regulation of protein kinase B signaling, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of MAPK cascade, negative regulation of apoptotic process, IRE1-mediated unfolded protein response, positive regulation of phosphatidylinositol 3-kinase signaling, apoptotic process, positive regulation of endothelial cell proliferation, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, angiogenesis, 11 11 45 52 33 52 39 21 44 ENSG00000074855 chr19 17323223 17334829 - ANO8 protein_coding 57719 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005788, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum lumen, GO:0005229, GO:0005229, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0055085, GO:0044267, GO:0043687, GO:0034220, GO:0006821, chloride transmembrane transport, transmembrane transport, cellular protein metabolic process, post-translational protein modification, ion transmembrane transport, chloride transport, 7 10 17 40 11 15 46 4 29 ENSG00000074935 chr6 112070777 112087529 - TUBE1 protein_coding This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009]. 51175 GO:0005874, GO:0005737, GO:0000242, microtubule, cytoplasm, pericentriolar material, GO:0005525, GO:0005200, GO:0003924, GTP binding, structural constituent of cytoskeleton, GTPase activity, GO:0007098, GO:0000278, GO:0000226, centrosome cycle, mitotic cell cycle, microtubule cytoskeleton organization, 23 10 40 67 12 39 49 10 24 ENSG00000074964 chr1 17539835 17697874 + ARHGEF10L protein_coding This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]. 55160 GO:0005829, GO:0005829, cytosol, cytosol, GO:0005096, GO:0005085, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0051496, GO:0051496, GO:0043547, GO:0032933, GO:0032933, GO:0030036, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, positive regulation of GTPase activity, SREBP signaling pathway, SREBP signaling pathway, actin cytoskeleton organization, 2 3 4 8 13 8 4 11 9 ENSG00000074966 chr4 48066393 48134256 - TXK protein_coding 7294 GO:0005886, GO:0005737, GO:0005634, plasma membrane, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0004715, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, GO:0060335, GO:0050852, GO:0050852, GO:0046777, GO:0045944, GO:0042246, GO:0038083, GO:0032729, GO:0010543, GO:0010468, GO:0007229, GO:0007202, GO:0006468, GO:0002250, GO:0002250, GO:0001816, positive regulation of interferon-gamma-mediated signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, protein autophosphorylation, positive regulation of transcription by RNA polymerase II, tissue regeneration, peptidyl-tyrosine autophosphorylation, positive regulation of interferon-gamma production, regulation of platelet activation, regulation of gene expression, integrin-mediated signaling pathway, activation of phospholipase C activity, protein phosphorylation, adaptive immune response, adaptive immune response, cytokine production, 58 40 77 172 48 148 126 46 66 ENSG00000075035 chr12 108129471 108250537 + WSCD2 protein_coding 9671 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000075043 chr20 63400210 63472677 - KCNQ2 protein_coding The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3785 GO:0045202, GO:0043194, GO:0043194, GO:0033268, GO:0016021, GO:0008076, GO:0008076, GO:0005887, GO:0005886, GO:0005886, synapse, axon initial segment, axon initial segment, node of Ranvier, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0030506, GO:0005516, GO:0005516, GO:0005515, GO:0005251, GO:0005249, GO:0005249, ankyrin binding, calmodulin binding, calmodulin binding, protein binding, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0034765, GO:0007399, GO:0007268, potassium ion transmembrane transport, potassium ion transmembrane transport, regulation of ion transmembrane transport, nervous system development, chemical synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000075073 chr10 69403903 69416867 - TACR2 protein_coding This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]. 6865 GO:0097225, GO:0097225, GO:0061827, GO:0036126, GO:0005887, GO:0005886, GO:0005886, GO:0005886, sperm midpiece, sperm midpiece, sperm head, sperm flagellum, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0016497, GO:0005515, GO:0004995, substance K receptor activity, protein binding, tachykinin receptor activity, GO:1902093, GO:1902093, GO:0070474, GO:0070459, GO:0051602, GO:0043117, GO:0035106, GO:0033685, GO:0014827, GO:0014057, GO:0007588, GO:0007217, GO:0007186, GO:0006936, positive regulation of flagellated sperm motility, positive regulation of flagellated sperm motility, positive regulation of uterine smooth muscle contraction, prolactin secretion, response to electrical stimulus, positive regulation of vascular permeability, operant conditioning, negative regulation of luteinizing hormone secretion, intestine smooth muscle contraction, positive regulation of acetylcholine secretion, neurotransmission, excretion, tachykinin receptor signaling pathway, G protein-coupled receptor signaling pathway, muscle contraction, 0 2 1 2 1 0 1 3 5 ENSG00000075089 chr12 100199122 100241865 + ACTR6 protein_coding 64431 GO:0005856, GO:0005737, GO:0005634, GO:0000812, cytoskeleton, cytoplasm, nucleus, Swr1 complex, GO:0031491, GO:0005515, nucleosome binding, protein binding, GO:0043486, histone exchange, 41 42 67 54 35 98 57 45 64 ENSG00000075131 chr15 66336206 66386746 - TIPIN protein_coding The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM, which is involved in circadian rhythm regulation, and aids in protecting cells against DNA damage and stress. Two pseudogenes and two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 54962 GO:0031298, GO:0005737, GO:0005654, GO:0005634, GO:0000785, replication fork protection complex, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0051301, GO:0048478, GO:0044770, GO:0043111, GO:0033262, GO:0031573, GO:0009411, GO:0008284, GO:0006260, GO:0000076, GO:0000076, cell division, replication fork protection, cell cycle phase transition, replication fork arrest, regulation of nuclear cell cycle DNA replication, intra-S DNA damage checkpoint, response to UV, positive regulation of cell population proliferation, DNA replication, DNA replication checkpoint, DNA replication checkpoint, 0 0 2 2 2 1 3 1 3 ENSG00000075142 chr7 88205118 88226993 - SRI protein_coding This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]. 6717 GO:0070062, GO:0070062, GO:0044326, GO:0043679, GO:0042584, GO:0033017, GO:0030315, GO:0030018, GO:0016529, GO:0016020, GO:0005829, GO:0005790, GO:0005789, GO:0005739, GO:0005737, GO:0005654, extracellular exosome, extracellular exosome, dendritic spine neck, axon terminus, chromaffin granule membrane, sarcoplasmic reticulum membrane, T-tubule, Z disc, sarcoplasmic reticulum, membrane, cytosol, smooth endoplasmic reticulum, endoplasmic reticulum membrane, mitochondrion, cytoplasm, nucleoplasm, GO:0070491, GO:0046982, GO:0044325, GO:0005515, GO:0005509, GO:0005246, GO:0005102, GO:0002020, repressing transcription factor binding, protein heterodimerization activity, ion channel binding, protein binding, calcium ion binding, calcium channel regulator activity, signaling receptor binding, protease binding, GO:2000678, GO:1901844, GO:1901841, GO:1901077, GO:0086004, GO:0060315, GO:0055118, GO:0051924, GO:0051281, GO:0042994, GO:0035774, GO:0010880, GO:0010649, GO:0010459, GO:0008016, GO:0007517, GO:0007507, GO:0007165, GO:0006942, GO:0006880, GO:0006816, GO:0001508, negative regulation of transcription regulatory region DNA binding, regulation of cell communication by electrical coupling involved in cardiac conduction, regulation of high voltage-gated calcium channel activity, regulation of relaxation of muscle, regulation of cardiac muscle cell contraction, negative regulation of ryanodine-sensitive calcium-release channel activity, negative regulation of cardiac muscle contraction, regulation of calcium ion transport, positive regulation of release of sequestered calcium ion into cytosol, cytoplasmic sequestering of transcription factor, positive regulation of insulin secretion involved in cellular response to glucose stimulus, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of cell communication by electrical coupling, negative regulation of heart rate, regulation of heart contraction, muscle organ development, heart development, signal transduction, regulation of striated muscle contraction, intracellular sequestering of iron ion, calcium ion transport, action potential, 162 126 228 102 78 116 86 74 92 ENSG00000075151 chr1 20806292 21176888 - EIF4G3 protein_coding The protein encoded by this gene is thought to be part of the eIF4F protein complex, which is involved in mRNA cap recognition and transport of mRNAs to the ribosome. Interestingly, a microRNA (miR-520c-3p) has been found that negatively regulates synthesis of the encoded protein, and this leads to a global decrease in protein translation and cell proliferation. Therefore, this protein is a key component of the anti-tumor activity of miR-520c-3p. [provided by RefSeq, May 2016]. 8672 GO:0016281, GO:0005829, eukaryotic translation initiation factor 4F complex, cytosol, GO:0008135, GO:0003743, GO:0003729, GO:0003723, GO:0000339, translation factor activity, RNA binding, translation initiation factor activity, mRNA binding, RNA binding, RNA cap binding, GO:0010507, GO:0006446, GO:0006413, negative regulation of autophagy, regulation of translational initiation, translational initiation, 743 761 1017 409 537 600 482 547 545 ENSG00000075188 chr12 102073103 102120124 - NUP37 protein_coding Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis. [provided by RefSeq, Dec 2015]. 79023 GO:0043657, GO:0031080, GO:0031080, GO:0031080, GO:0005829, GO:0005654, GO:0005635, GO:0005634, GO:0000777, GO:0000776, host cell, nuclear pore outer ring, nuclear pore outer ring, nuclear pore outer ring, cytosol, nucleoplasm, nuclear envelope, nucleus, condensed chromosome kinetochore, kinetochore, GO:0005515, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0051301, GO:0019083, GO:0016925, GO:0016032, GO:0007059, GO:0007049, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, cell division, viral transcription, protein sumoylation, viral process, chromosome segregation, cell cycle, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 9 12 17 18 20 16 22 9 5 ENSG00000075213 chr7 83955777 84492724 - SEMA3A protein_coding This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]. 10371 GO:0030425, GO:0030424, GO:0005887, GO:0005615, GO:0005576, dendrite, axon, integral component of plasma membrane, extracellular space, extracellular region, GO:0045499, GO:0045499, GO:0038191, GO:0038191, GO:0030215, chemorepellent activity, chemorepellent activity, neuropilin binding, neuropilin binding, semaphorin receptor binding, GO:2001224, GO:2000020, GO:1903375, GO:1903045, GO:1902287, GO:1902285, GO:1901166, GO:0150020, GO:0150020, GO:0097491, GO:0097490, GO:0071526, GO:0071526, GO:0061551, GO:0061549, GO:0060666, GO:0060385, GO:0050919, GO:0048880, GO:0048846, GO:0048843, GO:0048841, GO:0048485, GO:0046330, GO:0036486, GO:0030335, GO:0021828, GO:0021785, GO:0021772, GO:0021675, GO:0021637, GO:0021612, GO:0010977, GO:0010633, GO:0008045, GO:0007413, GO:0007411, GO:0007411, GO:0006915, GO:0002027, GO:0001764, GO:0001755, positive regulation of neuron migration, positive regulation of male gonad development, facioacoustic ganglion development, neural crest cell migration involved in sympathetic nervous system development, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway involved in neuron projection guidance, neural crest cell migration involved in autonomic nervous system development, basal dendrite arborization, basal dendrite arborization, sympathetic neuron projection guidance, sympathetic neuron projection extension, semaphorin-plexin signaling pathway, semaphorin-plexin signaling pathway, trigeminal ganglion development, sympathetic ganglion development, dichotomous subdivision of terminal units involved in salivary gland branching, axonogenesis involved in innervation, negative chemotaxis, sensory system development, axon extension involved in axon guidance, negative regulation of axon extension involved in axon guidance, regulation of axon extension involved in axon guidance, sympathetic nervous system development, positive regulation of JNK cascade, ventral trunk neural crest cell migration, positive regulation of cell migration, gonadotrophin-releasing hormone neuronal migration to the hypothalamus, branchiomotor neuron axon guidance, olfactory bulb development, nerve development, trigeminal nerve structural organization, facial nerve structural organization, negative regulation of neuron projection development, negative regulation of epithelial cell migration, motor neuron axon guidance, axonal fasciculation, axon guidance, axon guidance, apoptotic process, regulation of heart rate, neuron migration, neural crest cell migration, 0 0 2 7 2 0 0 1 0 ENSG00000075218 chr22 46296741 46330810 + GTSE1 protein_coding The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]. 51512 GO:0016020, GO:0015630, GO:0005881, GO:0005881, GO:0005829, GO:0005654, membrane, microtubule cytoskeleton, cytoplasmic microtubule, cytoplasmic microtubule, cytosol, nucleoplasm, GO:0008017, GO:0005515, GO:0003674, microtubule binding, protein binding, molecular_function, GO:1902749, GO:1900182, GO:0050821, GO:0046827, GO:0030335, GO:0007017, GO:0006977, regulation of cell cycle G2/M phase transition, positive regulation of protein localization to nucleus, protein stabilization, positive regulation of protein export from nucleus, positive regulation of cell migration, microtubule-based process, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, 7 2 8 9 6 10 2 7 2 ENSG00000075223 chr7 80742538 80922359 - SEMA3C protein_coding This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]. 10512 GO:0070062, GO:0005887, GO:0005615, extracellular exosome, integral component of plasma membrane, extracellular space, GO:0045499, GO:0030215, chemorepellent activity, semaphorin receptor binding, GO:1905312, GO:0140074, GO:0071526, GO:0060666, GO:0060174, GO:0050919, GO:0048843, GO:0042493, GO:0030335, GO:0021915, GO:0009791, GO:0007411, GO:0007411, GO:0006955, GO:0003350, GO:0003215, GO:0003148, GO:0001974, GO:0001756, GO:0001755, positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis, cardiac endothelial to mesenchymal transition, semaphorin-plexin signaling pathway, dichotomous subdivision of terminal units involved in salivary gland branching, limb bud formation, negative chemotaxis, negative regulation of axon extension involved in axon guidance, response to drug, positive regulation of cell migration, neural tube development, post-embryonic development, axon guidance, axon guidance, immune response, pulmonary myocardium development, cardiac right ventricle morphogenesis, outflow tract septum morphogenesis, blood vessel remodeling, somitogenesis, neural crest cell migration, 82 124 73 66 119 78 74 102 56 ENSG00000075234 chr22 46267961 46294008 + TTC38 protein_coding 55020 GO:0070062, extracellular exosome, 54 54 81 55 67 121 67 51 71 ENSG00000075239 chr11 108121516 108147776 + ACAT1 protein_coding This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]. 38 GO:0070062, GO:0005759, GO:0005739, GO:0005739, extracellular exosome, mitochondrial matrix, mitochondrion, mitochondrion, GO:0042802, GO:0030955, GO:0019899, GO:0016453, GO:0003985, GO:0003985, GO:0003985, identical protein binding, potassium ion binding, enzyme binding, C-acetyltransferase activity, acetyl-CoA C-acetyltransferase activity, acetyl-CoA C-acetyltransferase activity, acetyl-CoA C-acetyltransferase activity, GO:1902860, GO:1902224, GO:0072229, GO:0060612, GO:0046952, GO:0046952, GO:0046951, GO:0046356, GO:0042594, GO:0034435, GO:0015937, GO:0015936, GO:0014070, GO:0009725, GO:0009083, GO:0007420, GO:0006635, GO:0006635, GO:0006550, GO:0006550, GO:0006085, GO:0001889, propionyl-CoA biosynthetic process, ketone body metabolic process, metanephric proximal convoluted tubule development, adipose tissue development, ketone body catabolic process, ketone body catabolic process, ketone body biosynthetic process, acetyl-CoA catabolic process, response to starvation, cholesterol esterification, coenzyme A biosynthetic process, coenzyme A metabolic process, response to organic cyclic compound, response to hormone, branched-chain amino acid catabolic process, brain development, fatty acid beta-oxidation, fatty acid beta-oxidation, isoleucine catabolic process, isoleucine catabolic process, acetyl-CoA biosynthetic process, liver development, 24 12 38 41 22 61 19 31 42 ENSG00000075240 chr22 46576012 46679790 + GRAMD4 protein_coding GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011]. 23151 GO:0031966, GO:0016021, GO:0005789, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, endoplasmic reticulum membrane, mitochondrion, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0043280, GO:0043280, GO:0034164, GO:0034164, GO:0006915, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of toll-like receptor 9 signaling pathway, negative regulation of toll-like receptor 9 signaling pathway, apoptotic process, 60 94 156 60 62 103 56 71 87 ENSG00000075275 chr22 46360834 46537170 - CELSR1 protein_coding The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]. 9620 GO:0016021, GO:0005886, GO:0005654, integral component of membrane, plasma membrane, nucleoplasm, GO:0005509, GO:0004930, calcium ion binding, G protein-coupled receptor activity, GO:0098609, GO:0090251, GO:0090179, GO:0060490, GO:0060489, GO:0060488, GO:0060071, GO:0048105, GO:0045176, GO:0042472, GO:0042249, GO:0042060, GO:0032956, GO:0009952, GO:0007626, GO:0007417, GO:0007266, GO:0007186, GO:0007156, GO:0001942, GO:0001843, GO:0001764, GO:0001736, cell-cell adhesion, protein localization involved in establishment of planar polarity, planar cell polarity pathway involved in neural tube closure, lateral sprouting involved in lung morphogenesis, planar dichotomous subdivision of terminal units involved in lung branching morphogenesis, orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis, Wnt signaling pathway, planar cell polarity pathway, establishment of body hair planar orientation, apical protein localization, inner ear morphogenesis, establishment of planar polarity of embryonic epithelium, wound healing, regulation of actin cytoskeleton organization, anterior/posterior pattern specification, locomotory behavior, central nervous system development, Rho protein signal transduction, G protein-coupled receptor signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, hair follicle development, neural tube closure, neuron migration, establishment of planar polarity, 1 7 9 14 11 16 16 3 11 ENSG00000075290 chr10 100463041 100483744 + WNT8B protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]. 7479 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048018, GO:0005125, GO:0005109, receptor ligand activity, cytokine activity, frizzled binding, GO:1904886, GO:0071300, GO:0060070, GO:0060070, GO:0048263, GO:0045165, GO:0032526, GO:0032355, GO:0030182, GO:0030182, GO:0016055, GO:0007399, GO:0007369, GO:0007165, beta-catenin destruction complex disassembly, cellular response to retinoic acid, canonical Wnt signaling pathway, canonical Wnt signaling pathway, determination of dorsal identity, cell fate commitment, response to retinoic acid, response to estradiol, neuron differentiation, neuron differentiation, Wnt signaling pathway, nervous system development, gastrulation, signal transduction, 1 1 0 0 1 0 1 0 3 ENSG00000075292 chr2 71276561 71435069 + ZNF638 protein_coding The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. 27332 GO:0043231, GO:0016607, GO:0005737, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, nuclear speck, cytoplasm, nucleoplasm, nucleus, GO:0008270, GO:0003723, GO:0003690, zinc ion binding, RNA binding, double-stranded DNA binding, GO:0008380, RNA splicing, 1378 1333 1554 1250 1606 1592 1359 1057 1392 ENSG00000075303 chr7 87833568 87876357 - SLC25A40 protein_coding SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]. 55972 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0005347, ATP transmembrane transporter activity, GO:0055085, GO:0015867, transmembrane transport, ATP transport, 107 103 133 101 76 116 59 81 91 ENSG00000075336 chr18 74148511 74160530 + TIMM21 protein_coding 29090 GO:0016021, GO:0005744, GO:0005744, integral component of membrane, TIM23 mitochondrial import inner membrane translocase complex, TIM23 mitochondrial import inner membrane translocase complex, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0033617, GO:0032981, GO:0030150, GO:0030150, mitochondrial cytochrome c oxidase assembly, mitochondrial respiratory chain complex I assembly, protein import into mitochondrial matrix, protein import into mitochondrial matrix, 4 5 10 12 9 16 2 6 12 ENSG00000075340 chr2 70607618 70768225 - ADD2 protein_coding Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]. 119 GO:0044853, GO:0044853, GO:0031410, GO:0014069, GO:0008290, GO:0005856, GO:0005829, plasma membrane raft, plasma membrane raft, cytoplasmic vesicle, postsynaptic density, F-actin capping protein complex, cytoskeleton, cytosol, GO:0051015, GO:0051015, GO:0046982, GO:0042803, GO:0030507, GO:0030507, GO:0019901, GO:0005516, GO:0005200, GO:0005198, GO:0003779, actin filament binding, actin filament binding, protein heterodimerization activity, protein homodimerization activity, spectrin binding, spectrin binding, protein kinase binding, calmodulin binding, structural constituent of cytoskeleton, structural molecule activity, actin binding, GO:0065003, GO:0055085, GO:0051017, GO:0051017, GO:0051016, GO:0051016, GO:0050901, GO:0050900, GO:0032092, GO:0030097, GO:0030036, GO:0007416, protein-containing complex assembly, transmembrane transport, actin filament bundle assembly, actin filament bundle assembly, barbed-end actin filament capping, barbed-end actin filament capping, leukocyte tethering or rolling, leukocyte migration, positive regulation of protein binding, hemopoiesis, actin cytoskeleton organization, synapse assembly, 1 1 8 7 5 16 12 13 22 ENSG00000075388 chr11 69771016 69775403 - FGF4 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]. 2249 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0008201, GO:0008083, GO:0005104, heparin binding, growth factor activity, fibroblast growth factor receptor binding, GO:2000544, GO:1990830, GO:0070374, GO:0060591, GO:0060561, GO:0060363, GO:0051897, GO:0051781, GO:0045944, GO:0043066, GO:0042475, GO:0035116, GO:0030334, GO:0030154, GO:0019827, GO:0010628, GO:0010463, GO:0009887, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0007267, GO:0007165, GO:0001934, GO:0001502, GO:0000165, regulation of endothelial cell chemotaxis to fibroblast growth factor, cellular response to leukemia inhibitory factor, positive regulation of ERK1 and ERK2 cascade, chondroblast differentiation, apoptotic process involved in morphogenesis, cranial suture morphogenesis, positive regulation of protein kinase B signaling, positive regulation of cell division, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, odontogenesis of dentin-containing tooth, embryonic hindlimb morphogenesis, regulation of cell migration, cell differentiation, stem cell population maintenance, positive regulation of gene expression, mesenchymal cell proliferation, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, positive regulation of protein phosphorylation, cartilage condensation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000075391 chr1 178094141 178484147 + RASAL2 protein_coding This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 9462 GO:0005829, cytosol, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0043547, GO:0007165, GO:0000165, positive regulation of GTPase activity, signal transduction, MAPK cascade, 1 1 4 1 2 4 0 2 0 ENSG00000075399 chr16 89707134 89720986 - VPS9D1 protein_coding 9605 GO:0042802, GO:0005515, GO:0005215, GO:0005096, identical protein binding, protein binding, transporter activity, GTPase activator activity, GO:0043547, GO:0015986, positive regulation of GTPase activity, ATP synthesis coupled proton transport, 506 460 662 454 465 697 563 392 534 ENSG00000075407 chr10 38094334 38150293 + ZNF37A protein_coding 7587 GO:0005634, GO:0005634, GO:0005634, nucleus, nucleus, nucleus, GO:0046872, GO:0003700, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 56 57 73 133 59 100 70 52 103 ENSG00000075413 chr14 103385392 103503831 + MARK3 protein_coding The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 4140 GO:0070062, GO:0030425, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005737, extracellular exosome, dendrite, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0050321, GO:0050321, GO:0050321, GO:0048156, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0036289, GO:0035556, GO:0035331, GO:0032092, GO:0018105, GO:0006468, GO:0000226, GO:0000165, peptidyl-serine autophosphorylation, intracellular signal transduction, negative regulation of hippo signaling, positive regulation of protein binding, peptidyl-serine phosphorylation, protein phosphorylation, microtubule cytoskeleton organization, MAPK cascade, 1418 1195 1461 1045 1272 1259 1067 959 901 ENSG00000075415 chr12 98593591 98606379 + SLC25A3 protein_coding The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]. 5250 GO:0070062, GO:0031305, GO:0016020, GO:0005887, GO:0005743, GO:0005739, extracellular exosome, integral component of mitochondrial inner membrane, membrane, integral component of plasma membrane, mitochondrial inner membrane, mitochondrion, GO:0044877, GO:0015317, GO:0005315, protein-containing complex binding, phosphate:proton symporter activity, inorganic phosphate transmembrane transporter activity, GO:1902600, GO:0035435, proton transmembrane transport, phosphate ion transmembrane transport, 1386 1446 1590 2202 1688 2358 1682 1098 1421 ENSG00000075420 chr3 172039628 172401665 + FNDC3B protein_coding 64778 GO:0016021, integral component of membrane, GO:0003723, RNA binding, 2982 3547 4205 1480 2780 2831 1862 2267 2398 ENSG00000075426 chr2 28392448 28417312 + FOSL2 protein_coding The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014]. 2355 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048146, GO:0045944, GO:0008219, GO:0006357, GO:0003334, positive regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, cell death, regulation of transcription by RNA polymerase II, keratinocyte development, 5139 8465 7500 15443 18439 15525 16502 14647 12616 ENSG00000075429 chr17 66835117 66885486 + CACNG5 protein_coding The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]. 27091 GO:0098978, GO:0098839, GO:0032281, GO:0032281, GO:0014069, GO:0005886, glutamatergic synapse, postsynaptic density membrane, AMPA glutamate receptor complex, AMPA glutamate receptor complex, postsynaptic density, plasma membrane, GO:0016247, GO:0015075, GO:0005245, channel regulator activity, ion transmembrane transporter activity, voltage-gated calcium channel activity, GO:2000311, GO:2000311, GO:0099590, GO:0098970, GO:0098962, GO:0098943, GO:0070588, GO:0061337, GO:0051968, GO:0019226, regulation of AMPA receptor activity, regulation of AMPA receptor activity, neurotransmitter receptor internalization, postsynaptic neurotransmitter receptor diffusion trapping, regulation of postsynaptic neurotransmitter receptor activity, neurotransmitter receptor transport, postsynaptic endosome to lysosome, calcium ion transmembrane transport, cardiac conduction, positive regulation of synaptic transmission, glutamatergic, transmission of nerve impulse, 0 0 0 0 0 0 0 0 0 ENSG00000075461 chr17 66964910 67033398 + CACNG4 protein_coding The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]. 27092 GO:1990454, GO:0098978, GO:0098839, GO:0044297, GO:0036477, GO:0032281, GO:0032281, GO:0030666, GO:0009986, GO:0005887, GO:0005886, L-type voltage-gated calcium channel complex, glutamatergic synapse, postsynaptic density membrane, cell body, somatodendritic compartment, AMPA glutamate receptor complex, AMPA glutamate receptor complex, endocytic vesicle membrane, cell surface, integral component of plasma membrane, plasma membrane, GO:0035255, GO:0016247, GO:0005246, GO:0005245, ionotropic glutamate receptor binding, channel regulator activity, calcium channel regulator activity, voltage-gated calcium channel activity, GO:2000969, GO:2000311, GO:2000311, GO:0099590, GO:0098970, GO:0098962, GO:0098943, GO:0070588, GO:0061337, GO:0051968, GO:0051899, GO:0042220, GO:0019226, positive regulation of AMPA receptor activity, regulation of AMPA receptor activity, regulation of AMPA receptor activity, neurotransmitter receptor internalization, postsynaptic neurotransmitter receptor diffusion trapping, regulation of postsynaptic neurotransmitter receptor activity, neurotransmitter receptor transport, postsynaptic endosome to lysosome, calcium ion transmembrane transport, cardiac conduction, positive regulation of synaptic transmission, glutamatergic, membrane depolarization, response to cocaine, transmission of nerve impulse, 1 0 0 0 0 0 3 1 4 ENSG00000075539 chr4 48497361 48780322 - FRYL protein_coding 285527 GO:0030427, GO:0005938, site of polarized growth, cell cortex, GO:0005515, protein binding, GO:0031175, GO:0000902, neuron projection development, cell morphogenesis, 1518 1405 1793 916 907 1009 1013 667 787 ENSG00000075568 chr2 97756333 97995891 - TMEM131 protein_coding 23505 GO:0016021, GO:0016020, GO:0005575, integral component of membrane, membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 765 788 906 526 632 573 494 446 471 ENSG00000075618 chr7 5592823 5606655 + FSCN1 protein_coding This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]. 6624 GO:0071437, GO:0070062, GO:0044393, GO:0031253, GO:0031253, GO:0030426, GO:0030426, GO:0030175, GO:0030175, GO:0030027, GO:0030027, GO:0015629, GO:0015629, GO:0005938, GO:0005911, GO:0005902, GO:0005902, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0002102, GO:0001726, GO:0001726, GO:0001725, invadopodium, extracellular exosome, microspike, cell projection membrane, cell projection membrane, growth cone, growth cone, filopodium, filopodium, lamellipodium, lamellipodium, actin cytoskeleton, actin cytoskeleton, cell cortex, cell-cell junction, microvillus, microvillus, cytoskeleton, cytosol, cytosol, cytoplasm, cytoplasm, podosome, ruffle, ruffle, stress fiber, GO:0051015, GO:0051015, GO:0045296, GO:0030674, GO:0008144, GO:0005515, GO:0003779, GO:0003723, actin filament binding, actin filament binding, cadherin binding, protein-macromolecule adaptor activity, drug binding, protein binding, actin binding, RNA binding, GO:0090091, GO:0071803, GO:0051491, GO:0051491, GO:0051017, GO:0051017, GO:0048870, GO:0035089, GO:0032956, GO:0032534, GO:0030046, GO:0030036, GO:0030035, GO:0030035, GO:0019221, GO:0016477, GO:0016477, GO:0010592, GO:0007163, GO:0007043, positive regulation of extracellular matrix disassembly, positive regulation of podosome assembly, positive regulation of filopodium assembly, positive regulation of filopodium assembly, actin filament bundle assembly, actin filament bundle assembly, cell motility, establishment of apical/basal cell polarity, regulation of actin cytoskeleton organization, regulation of microvillus assembly, parallel actin filament bundle assembly, actin cytoskeleton organization, microspike assembly, microspike assembly, cytokine-mediated signaling pathway, cell migration, cell migration, positive regulation of lamellipodium assembly, establishment or maintenance of cell polarity, cell-cell junction assembly, 25 36 70 34 41 66 50 37 32 ENSG00000075624 chr7 5527147 5563784 - ACTB protein_coding This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]. 60 GO:1990904, GO:0098978, GO:0098978, GO:0098978, GO:0098871, GO:0098871, GO:0098793, GO:0097433, GO:0072562, GO:0070160, GO:0070062, GO:0045202, GO:0043296, GO:0036464, GO:0035267, GO:0035267, GO:0032991, GO:0032991, GO:0031982, GO:0030424, GO:0030027, GO:0016020, GO:0016020, GO:0015629, GO:0005925, GO:0005912, GO:0005911, GO:0005886, GO:0005886, GO:0005884, GO:0005856, GO:0005856, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005615, GO:0000785, ribonucleoprotein complex, glutamatergic synapse, glutamatergic synapse, glutamatergic synapse, postsynaptic actin cytoskeleton, postsynaptic actin cytoskeleton, presynapse, dense body, blood microparticle, tight junction, extracellular exosome, synapse, apical junction complex, cytoplasmic ribonucleoprotein granule, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, protein-containing complex, protein-containing complex, vesicle, axon, lamellipodium, membrane, membrane, actin cytoskeleton, focal adhesion, adherens junction, cell-cell junction, plasma membrane, plasma membrane, actin filament, cytoskeleton, cytoskeleton, cytoskeleton, cytosol, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, extracellular space, chromatin, GO:0098973, GO:0098973, GO:0098973, GO:0098973, GO:0050998, GO:0048156, GO:0042802, GO:0031492, GO:0030957, GO:0019901, GO:0019901, GO:0019894, GO:0005524, GO:0005515, GO:0005200, structural constituent of postsynaptic actin cytoskeleton, structural constituent of postsynaptic actin cytoskeleton, structural constituent of postsynaptic actin cytoskeleton, structural constituent of postsynaptic actin cytoskeleton, nitric-oxide synthase binding, tau protein binding, identical protein binding, nucleosomal DNA binding, Tat protein binding, protein kinase binding, protein kinase binding, kinesin binding, ATP binding, protein binding, structural constituent of cytoskeleton, GO:1903076, GO:0150111, GO:0098974, GO:0072749, GO:0071896, GO:0070527, GO:0061024, GO:0051623, GO:0051621, GO:0051621, GO:0048870, GO:0048870, GO:0048013, GO:0045815, GO:0045176, GO:0043044, GO:0038096, GO:0035633, GO:0034333, GO:0034329, GO:0032091, GO:0022898, GO:0022898, GO:0021762, GO:0016579, GO:0007409, GO:0007163, GO:0001895, GO:0001738, GO:0000079, regulation of protein localization to plasma membrane, regulation of transepithelial transport, postsynaptic actin cytoskeleton organization, cellular response to cytochalasin B, protein localization to adherens junction, platelet aggregation, membrane organization, positive regulation of norepinephrine uptake, regulation of norepinephrine uptake, regulation of norepinephrine uptake, cell motility, cell motility, ephrin receptor signaling pathway, positive regulation of gene expression, epigenetic, apical protein localization, ATP-dependent chromatin remodeling, Fc-gamma receptor signaling pathway involved in phagocytosis, maintenance of blood-brain barrier, adherens junction assembly, cell junction assembly, negative regulation of protein binding, regulation of transmembrane transporter activity, regulation of transmembrane transporter activity, substantia nigra development, protein deubiquitination, axonogenesis, establishment or maintenance of cell polarity, retina homeostasis, morphogenesis of a polarized epithelium, regulation of cyclin-dependent protein serine/threonine kinase activity, 49101 44143 67857 43258 61642 47494 43414 51006 40037 ENSG00000075643 chr18 36187519 36272157 + MOCOS protein_coding This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]. 55034 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0102867, GO:0030170, GO:0030151, GO:0016829, GO:0008265, GO:0008265, GO:0005515, molybdenum cofactor sulfurtransferase activity, pyridoxal phosphate binding, molybdenum ion binding, lyase activity, Mo-molybdopterin cofactor sulfurase activity, Mo-molybdopterin cofactor sulfurase activity, protein binding, GO:0043545, GO:0043545, GO:0032324, GO:0006777, molybdopterin cofactor metabolic process, molybdopterin cofactor metabolic process, molybdopterin cofactor biosynthetic process, Mo-molybdopterin cofactor biosynthetic process, 0 1 3 0 0 0 0 0 0 ENSG00000075651 chr3 171600405 171810950 - PLD1 protein_coding This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]. 5337 GO:0098981, GO:0098981, GO:0070821, GO:0048471, GO:0035579, GO:0031902, GO:0030139, GO:0016324, GO:0016020, GO:0005886, GO:0005794, GO:0005789, GO:0005768, GO:0005765, GO:0000139, cholinergic synapse, cholinergic synapse, tertiary granule membrane, perinuclear region of cytoplasm, specific granule membrane, late endosome membrane, endocytic vesicle, apical plasma membrane, membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endosome, lysosomal membrane, Golgi membrane, GO:0070290, GO:0035091, GO:0005515, GO:0004630, N-acylphosphatidylethanolamine-specific phospholipase D activity, phosphatidylinositol binding, protein binding, phospholipase D activity, GO:0098693, GO:0098693, GO:0048870, GO:0048017, GO:0045727, GO:0043312, GO:0032534, GO:0032534, GO:0016042, GO:0007265, GO:0007264, GO:0006935, GO:0006654, regulation of synaptic vesicle cycle, regulation of synaptic vesicle cycle, cell motility, inositol lipid-mediated signaling, positive regulation of translation, neutrophil degranulation, regulation of microvillus assembly, regulation of microvillus assembly, lipid catabolic process, Ras protein signal transduction, small GTPase mediated signal transduction, chemotaxis, phosphatidic acid biosynthetic process, 152 176 242 86 138 185 125 122 109 ENSG00000075673 chr13 24680411 24712493 + ATP12A protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 479 GO:0005889, GO:0005886, potassium:proton exchanging ATPase complex, plasma membrane, GO:0046872, GO:0008900, GO:0005524, GO:0005391, metal ion binding, potassium:proton exchanging ATPase activity, ATP binding, sodium:potassium-exchanging ATPase activity, GO:1990573, GO:1902600, GO:0036376, GO:0034220, GO:0030007, GO:0010248, GO:0006883, potassium ion import across plasma membrane, proton transmembrane transport, sodium ion export across plasma membrane, ion transmembrane transport, cellular potassium ion homeostasis, establishment or maintenance of transmembrane electrochemical gradient, cellular sodium ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000075702 chr19 36054881 36105106 + WDR62 protein_coding This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]. 284403 GO:0034451, GO:0005829, GO:0005814, GO:0005813, GO:0005634, GO:0005634, GO:0000922, GO:0000922, centriolar satellite, cytosol, centriole, centrosome, nucleus, nucleus, spindle pole, spindle pole, GO:0005515, protein binding, GO:0022008, GO:0022008, GO:0021987, GO:0007099, GO:0007052, GO:0007052, neurogenesis, neurogenesis, cerebral cortex development, centriole replication, mitotic spindle organization, mitotic spindle organization, 2 6 11 13 2 13 14 5 8 ENSG00000075711 chr3 197042560 197299300 - DLG1 protein_coding This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]. 1739 GO:0098978, GO:0098839, GO:0097060, GO:0097025, GO:0070062, GO:0048471, GO:0045121, GO:0043219, GO:0043005, GO:0042383, GO:0035748, GO:0033268, GO:0031594, GO:0031253, GO:0030054, GO:0030054, GO:0016328, GO:0016324, GO:0016323, GO:0016323, GO:0014704, GO:0009898, GO:0008328, GO:0005923, GO:0005911, GO:0005886, GO:0005874, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0005737, GO:0005634, GO:0005604, GO:0001772, GO:0001772, glutamatergic synapse, postsynaptic density membrane, synaptic membrane, MPP7-DLG1-LIN7 complex, extracellular exosome, perinuclear region of cytoplasm, membrane raft, lateral loop, neuron projection, sarcolemma, myelin sheath abaxonal region, node of Ranvier, neuromuscular junction, cell projection membrane, cell junction, cell junction, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, intercalated disc, cytoplasmic side of plasma membrane, ionotropic glutamate receptor complex, bicellular tight junction, cell-cell junction, plasma membrane, microtubule, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleus, basement membrane, immunological synapse, immunological synapse, GO:0098919, GO:0097016, GO:0060090, GO:0045296, GO:0044325, GO:0031434, GO:0019902, GO:0019901, GO:0015459, GO:0015459, GO:0015459, GO:0008092, GO:0008022, GO:0005515, GO:0004721, GO:0004385, structural constituent of postsynaptic density, L27 domain binding, molecular adaptor activity, cadherin binding, ion channel binding, mitogen-activated protein kinase kinase binding, phosphatase binding, protein kinase binding, potassium channel regulator activity, potassium channel regulator activity, potassium channel regulator activity, cytoskeletal protein binding, protein C-terminus binding, protein binding, phosphoprotein phosphatase activity, guanylate kinase activity, GO:2000310, GO:1903764, GO:1903760, GO:1903753, GO:1903286, GO:1903078, GO:1902473, GO:1902305, GO:1901222, GO:0099645, GO:0099562, GO:0098911, GO:0098609, GO:0098609, GO:0097120, GO:0072659, GO:0072659, GO:0070830, GO:0070373, GO:0060022, GO:0051898, GO:0051660, GO:0050680, GO:0048745, GO:0048704, GO:0048608, GO:0046710, GO:0046037, GO:0045930, GO:0045197, GO:0043622, GO:0043268, GO:0043113, GO:0042982, GO:0042391, GO:0042130, GO:0042110, GO:0034629, GO:0032147, GO:0031641, GO:0031579, GO:0030953, GO:0030866, GO:0030838, GO:0030432, GO:0016032, GO:0009790, GO:0008360, GO:0008284, GO:0007268, GO:0007163, GO:0007093, GO:0007015, GO:0006470, GO:0002369, GO:0002088, GO:0001935, GO:0001771, GO:0001658, GO:0000165, GO:0000122, regulation of NMDA receptor activity, regulation of potassium ion export across plasma membrane, regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, negative regulation of p38MAPK cascade, regulation of potassium ion import, positive regulation of protein localization to plasma membrane, regulation of protein localization to synapse, regulation of sodium ion transmembrane transport, regulation of NIK/NF-kappaB signaling, neurotransmitter receptor localization to postsynaptic specialization membrane, maintenance of postsynaptic density structure, regulation of ventricular cardiac muscle cell action potential, cell-cell adhesion, cell-cell adhesion, receptor localization to synapse, protein localization to plasma membrane, protein localization to plasma membrane, bicellular tight junction assembly, negative regulation of ERK1 and ERK2 cascade, hard palate development, negative regulation of protein kinase B signaling, establishment of centrosome localization, negative regulation of epithelial cell proliferation, smooth muscle tissue development, embryonic skeletal system morphogenesis, reproductive structure development, GDP metabolic process, GMP metabolic process, negative regulation of mitotic cell cycle, establishment or maintenance of epithelial cell apical/basal polarity, cortical microtubule organization, positive regulation of potassium ion transport, receptor clustering, amyloid precursor protein metabolic process, regulation of membrane potential, negative regulation of T cell proliferation, T cell activation, cellular protein-containing complex localization, activation of protein kinase activity, regulation of myelination, membrane raft organization, astral microtubule organization, cortical actin cytoskeleton organization, positive regulation of actin filament polymerization, peristalsis, viral process, embryo development, regulation of cell shape, positive regulation of cell population proliferation, chemical synaptic transmission, establishment or maintenance of cell polarity, mitotic cell cycle checkpoint, actin filament organization, protein dephosphorylation, T cell cytokine production, lens development in camera-type eye, endothelial cell proliferation, immunological synapse formation, branching involved in ureteric bud morphogenesis, MAPK cascade, negative regulation of transcription by RNA polymerase II, 146 154 229 248 178 257 207 129 213 ENSG00000075785 chr3 128726122 128814796 + RAB7A protein_coding RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]. 7879 GO:0070062, GO:0045335, GO:0045335, GO:0033162, GO:0032419, GO:0031902, GO:0030904, GO:0030670, GO:0030667, GO:0010008, GO:0010008, GO:0005886, GO:0005829, GO:0005811, GO:0005770, GO:0005770, GO:0005770, GO:0005765, GO:0005764, GO:0005764, GO:0005764, GO:0000421, extracellular exosome, phagocytic vesicle, phagocytic vesicle, melanosome membrane, extrinsic component of lysosome membrane, late endosome membrane, retromer complex, phagocytic vesicle membrane, secretory granule membrane, endosome membrane, endosome membrane, plasma membrane, cytosol, lipid droplet, late endosome, late endosome, late endosome, lysosomal membrane, lysosome, lysosome, lysosome, autophagosome membrane, GO:1905394, GO:0019003, GO:0005525, GO:0005515, GO:0003924, retromer complex binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:1905366, GO:1903543, GO:1903542, GO:1902586, GO:0090385, GO:0090385, GO:0090383, GO:0090382, GO:0061724, GO:0048524, GO:0045732, GO:0045022, GO:0043312, GO:0042147, GO:0022615, GO:0019886, GO:0019076, GO:0016042, GO:0015031, GO:0008333, GO:0008333, GO:0007174, GO:0006897, GO:0006622, GO:0000045, negative regulation of intralumenal vesicle formation, positive regulation of exosomal secretion, negative regulation of exosomal secretion, multi-organism intercellular transport, phagosome-lysosome fusion, phagosome-lysosome fusion, phagosome acidification, phagosome maturation, lipophagy, positive regulation of viral process, positive regulation of protein catabolic process, early endosome to late endosome transport, neutrophil degranulation, retrograde transport, endosome to Golgi, protein to membrane docking, antigen processing and presentation of exogenous peptide antigen via MHC class II, viral release from host cell, lipid catabolic process, protein transport, endosome to lysosome transport, endosome to lysosome transport, epidermal growth factor catabolic process, endocytosis, protein targeting to lysosome, autophagosome assembly, 4867 4686 5437 1417 3021 1962 1807 2843 2055 ENSG00000075790 chr7 107579977 107629170 + BCAP29 protein_coding 55973 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0070973, GO:0006915, GO:0006888, GO:0006886, GO:0001649, protein localization to endoplasmic reticulum exit site, apoptotic process, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, osteoblast differentiation, 64 67 75 54 39 48 35 48 70 ENSG00000075826 chr10 100486642 100519864 - SEC31B protein_coding This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]. 25956 GO:0070971, GO:0030127, GO:0030120, GO:0005789, GO:0000139, endoplasmic reticulum exit site, COPII vesicle coat, vesicle coat, endoplasmic reticulum membrane, Golgi membrane, GO:0005198, structural molecule activity, GO:0090110, GO:0007029, GO:0006886, COPII-coated vesicle cargo loading, endoplasmic reticulum organization, intracellular protein transport, 64 92 90 166 97 171 104 89 76 ENSG00000075856 chr12 108522580 108561400 - SART3 protein_coding The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]. 9733 GO:0071002, GO:0071001, GO:0061574, GO:0046540, GO:0016607, GO:0015030, GO:0005737, GO:0005691, GO:0005654, GO:0005654, GO:0005634, U4atac/U6atac snRNP, U4/U6 snRNP, ASAP complex, U4/U6 x U5 tri-snRNP complex, nuclear speck, Cajal body, cytoplasm, U6atac snRNP, nucleoplasm, nucleoplasm, nucleus, GO:1990381, GO:0042393, GO:0030624, GO:0030621, GO:0030621, GO:0017070, GO:0005515, GO:0003723, ubiquitin-specific protease binding, histone binding, U6atac snRNA binding, U4 snRNA binding, U4 snRNA binding, U6 snRNA binding, protein binding, RNA binding, GO:1903586, GO:0071425, GO:0048872, GO:0010468, GO:0006334, GO:0000902, GO:0000398, GO:0000398, GO:0000387, GO:0000381, GO:0000244, positive regulation of histone deubiquitination, hematopoietic stem cell proliferation, homeostasis of number of cells, regulation of gene expression, nucleosome assembly, cell morphogenesis, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, regulation of alternative mRNA splicing, via spliceosome, spliceosomal tri-snRNP complex assembly, 419 419 671 331 226 382 281 214 196 ENSG00000075884 chr2 143091362 143768352 + ARHGAP15 protein_coding RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008]. 55843 GO:0016020, GO:0005829, GO:0005737, membrane, cytosol, cytoplasm, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0043087, GO:0008360, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of GTPase activity, regulation of cell shape, signal transduction, 1531 1658 1939 700 1177 1199 891 1287 1178 ENSG00000075886 chr2 131476093 131482934 + TUBA3D protein_coding This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011]. 113457 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0005525, GO:0005200, GO:0003924, GTP binding, structural constituent of cytoskeleton, GTPase activity, GO:0000278, GO:0000226, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 4 4 2 0 1 0 0 ENSG00000075891 chr10 100735603 100829941 + PAX2 protein_coding PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 5076 GO:0034451, GO:0032993, GO:0032991, GO:0005815, GO:0005794, GO:0005764, GO:0005730, GO:0005634, GO:0000785, GO:0000785, centriolar satellite, protein-DNA complex, protein-containing complex, microtubule organizing center, Golgi apparatus, lysosome, nucleolus, nucleus, chromatin, chromatin, GO:1990837, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0003677, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000597, GO:2000594, GO:2000378, GO:1900218, GO:1900215, GO:1900212, GO:0090190, GO:0090103, GO:0090102, GO:0072593, GO:0072307, GO:0072305, GO:0072300, GO:0072289, GO:0072221, GO:0072207, GO:0072205, GO:0072189, GO:0072179, GO:0072162, GO:0072108, GO:0072075, GO:0071364, GO:0071333, GO:0071300, GO:0070301, GO:0061360, GO:0060231, GO:0050679, GO:0048863, GO:0048856, GO:0048854, GO:0048793, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045892, GO:0043491, GO:0043154, GO:0043069, GO:0043066, GO:0043066, GO:0043010, GO:0042472, GO:0039003, GO:0035799, GO:0035566, GO:0031667, GO:0021650, GO:0021633, GO:0021631, GO:0021554, GO:0010001, GO:0007601, GO:0007568, GO:0007501, GO:0007409, GO:0006357, GO:0003406, GO:0003337, GO:0002072, GO:0001843, GO:0001823, GO:0001709, GO:0001658, GO:0001658, GO:0001655, positive regulation of optic nerve formation, positive regulation of metanephric DCT cell differentiation, negative regulation of reactive oxygen species metabolic process, negative regulation of apoptotic process involved in metanephric nephron tubule development, negative regulation of apoptotic process involved in metanephric collecting duct development, negative regulation of mesenchymal cell apoptotic process involved in metanephros development, positive regulation of branching involved in ureteric bud morphogenesis, cochlea morphogenesis, cochlea development, reactive oxygen species metabolic process, regulation of metanephric nephron tubule epithelial cell differentiation, negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis, positive regulation of metanephric glomerulus development, metanephric nephron tubule formation, metanephric distal convoluted tubule development, metanephric epithelium development, metanephric collecting duct development, ureter development, nephric duct formation, metanephric mesenchymal cell differentiation, positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis, metanephric mesenchyme development, cellular response to epidermal growth factor stimulus, cellular response to glucose stimulus, cellular response to retinoic acid, cellular response to hydrogen peroxide, optic chiasma development, mesenchymal to epithelial transition, positive regulation of epithelial cell proliferation, stem cell differentiation, anatomical structure development, brain morphogenesis, pronephros development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, protein kinase B signaling, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of programmed cell death, negative regulation of apoptotic process, negative regulation of apoptotic process, camera-type eye development, inner ear morphogenesis, pronephric field specification, ureter maturation, regulation of metanephros size, response to nutrient levels, vestibulocochlear nerve formation, optic nerve structural organization, optic nerve morphogenesis, optic nerve development, glial cell differentiation, visual perception, aging, mesodermal cell fate specification, axonogenesis, regulation of transcription by RNA polymerase II, retinal pigment epithelium development, mesenchymal to epithelial transition involved in metanephros morphogenesis, optic cup morphogenesis involved in camera-type eye development, neural tube closure, mesonephros development, cell fate determination, branching involved in ureteric bud morphogenesis, branching involved in ureteric bud morphogenesis, urogenital system development, 0 1 0 0 0 0 0 0 0 ENSG00000075914 chr3 44975241 45036066 + EXOSC7 protein_coding 23016 GO:0005829, GO:0005730, GO:0005654, GO:0000178, GO:0000178, GO:0000177, GO:0000176, cytosol, nucleolus, nucleoplasm, exosome (RNase complex), exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), GO:0017091, GO:0005515, GO:0004532, GO:0003723, GO:0000175, AU-rich element binding, protein binding, exoribonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, GO:0071042, GO:0071038, GO:0071035, GO:0071028, GO:0043928, GO:0043928, GO:0043488, GO:0034476, GO:0034475, GO:0034473, GO:0034427, GO:0016075, GO:0006401, GO:0006364, GO:0000467, nuclear polyadenylation-dependent mRNA catabolic process, nuclear polyadenylation-dependent tRNA catabolic process, nuclear polyadenylation-dependent rRNA catabolic process, nuclear mRNA surveillance, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, U5 snRNA 3'-end processing, U4 snRNA 3'-end processing, U1 snRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', rRNA catabolic process, RNA catabolic process, rRNA processing, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 18 14 23 31 14 46 21 12 18 ENSG00000075945 chr1 169921326 170085208 - KIFAP3 protein_coding The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 22920 GO:1990075, GO:0097542, GO:0036064, GO:0035869, GO:0032391, GO:0016939, GO:0016939, GO:0016939, GO:0015630, GO:0005930, GO:0005929, GO:0005876, GO:0005829, GO:0005813, GO:0005794, GO:0005783, GO:0000794, periciliary membrane compartment, ciliary tip, ciliary basal body, ciliary transition zone, photoreceptor connecting cilium, kinesin II complex, kinesin II complex, kinesin II complex, microtubule cytoskeleton, axoneme, cilium, spindle microtubule, cytosol, centrosome, Golgi apparatus, endoplasmic reticulum, condensed nuclear chromosome, GO:0120170, GO:0019903, GO:0019894, GO:0005515, intraciliary transport particle B binding, protein phosphatase binding, kinesin binding, protein binding, GO:0072383, GO:0065003, GO:0046587, GO:0044782, GO:0043066, GO:0035735, GO:0019886, GO:0008285, GO:0007165, GO:0007018, GO:0007018, GO:0007017, GO:0006890, plus-end-directed vesicle transport along microtubule, protein-containing complex assembly, positive regulation of calcium-dependent cell-cell adhesion, cilium organization, negative regulation of apoptotic process, intraciliary transport involved in cilium assembly, antigen processing and presentation of exogenous peptide antigen via MHC class II, negative regulation of cell population proliferation, signal transduction, microtubule-based movement, microtubule-based movement, microtubule-based process, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 43 25 52 57 36 84 47 36 51 ENSG00000075975 chr3 12557014 12583713 + MKRN2 protein_coding This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 23609 GO:0061630, GO:0046872, GO:0005515, GO:0003723, ubiquitin protein ligase activity, metal ion binding, protein binding, RNA binding, GO:0016567, GO:0016567, GO:0008150, protein ubiquitination, protein ubiquitination, biological_process, 286 301 350 366 438 389 282 351 309 ENSG00000076003 chr2 135839626 135876426 - MCM6 protein_coding The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]. 4175 GO:0071162, GO:0042555, GO:0042555, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000781, CMG complex, MCM complex, MCM complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromosome, telomeric region, GO:1990518, GO:0042802, GO:0005524, GO:0005515, GO:0003697, GO:0003688, GO:0003678, single-stranded 3'-5' DNA helicase activity, identical protein binding, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, DNA helicase activity, GO:1902969, GO:0006270, GO:0006268, GO:0006267, GO:0006260, GO:0006260, GO:0000727, GO:0000082, mitotic DNA replication, DNA replication initiation, DNA unwinding involved in DNA replication, pre-replicative complex assembly involved in nuclear cell cycle DNA replication, DNA replication, DNA replication, double-strand break repair via break-induced replication, G1/S transition of mitotic cell cycle, 69 47 131 61 17 77 53 12 46 ENSG00000076043 chr11 114439386 114450279 + REXO2 protein_coding This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]. 25996 GO:0005925, GO:0005759, GO:0005758, GO:0005739, GO:0005739, GO:0005730, GO:0005634, focal adhesion, mitochondrial matrix, mitochondrial intermembrane space, mitochondrion, mitochondrion, nucleolus, nucleus, GO:0008408, GO:0003676, GO:0000175, 3'-5' exonuclease activity, nucleic acid binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0009117, GO:0006139, RNA phosphodiester bond hydrolysis, exonucleolytic, nucleotide metabolic process, nucleobase-containing compound metabolic process, 18 15 34 43 26 50 36 26 30 ENSG00000076053 chr11 114400030 114414203 + RBM7 protein_coding 10179 GO:0005730, GO:0005654, GO:0005634, GO:0005634, nucleolus, nucleoplasm, nucleus, nucleus, GO:0097157, GO:0071889, GO:0071889, GO:0017069, GO:0005515, GO:0003727, GO:0003723, GO:0003723, GO:0003723, pre-mRNA intronic binding, 14-3-3 protein binding, 14-3-3 protein binding, snRNA binding, protein binding, single-stranded RNA binding, RNA binding, RNA binding, RNA binding, GO:0051321, GO:0016076, GO:0000381, meiotic cell cycle, snRNA catabolic process, regulation of alternative mRNA splicing, via spliceosome, 510 555 561 373 417 551 392 402 481 ENSG00000076067 chr12 56521929 56596196 + RBMS2 protein_coding The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008]. 5939 GO:1990904, GO:0005829, GO:0005634, ribonucleoprotein complex, cytosol, nucleus, GO:0008266, GO:0008143, GO:0003730, GO:0003723, GO:0003723, poly(U) RNA binding, poly(A) binding, mRNA 3'-UTR binding, RNA binding, RNA binding, GO:0006396, RNA processing, 122 180 166 95 209 139 113 177 126 ENSG00000076108 chr12 56595596 56636816 - BAZ2A protein_coding 11176 GO:0033553, GO:0033553, GO:0016607, GO:0005829, GO:0005730, GO:0005677, GO:0000785, rDNA heterochromatin, rDNA heterochromatin, nuclear speck, cytosol, nucleolus, chromatin silencing complex, chromatin, GO:0070577, GO:0046872, GO:0042393, GO:0016922, GO:0005515, GO:0003723, GO:0001164, lysine-acetylated histone binding, metal ion binding, histone binding, nuclear receptor binding, protein binding, RNA binding, RNA polymerase I core promoter sequence-specific DNA binding, GO:0016575, GO:0006355, GO:0006351, GO:0006338, GO:0006306, GO:0001188, GO:0000183, histone deacetylation, regulation of transcription, DNA-templated, transcription, DNA-templated, chromatin remodeling, DNA methylation, RNA polymerase I preinitiation complex assembly, rDNA heterochromatin assembly, 5000 5599 6504 1977 3193 2813 2423 2562 2574 ENSG00000076201 chr3 47381011 47413441 + PTPN23 protein_coding This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]. 25930 GO:0070062, GO:0036064, GO:0016604, GO:0005829, GO:0005769, GO:0005768, GO:0005737, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, ciliary basal body, nuclear body, cytosol, early endosome, endosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0019901, GO:0005515, GO:0004725, protein kinase binding, protein binding, protein tyrosine phosphatase activity, GO:2000643, GO:1903393, GO:1903387, GO:0071345, GO:0061357, GO:0060271, GO:0045022, GO:0043162, GO:0035335, GO:0032456, GO:0015031, GO:0010633, positive regulation of early endosome to late endosome transport, positive regulation of adherens junction organization, positive regulation of homophilic cell adhesion, cellular response to cytokine stimulus, positive regulation of Wnt protein secretion, cilium assembly, early endosome to late endosome transport, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, peptidyl-tyrosine dephosphorylation, endocytic recycling, protein transport, negative regulation of epithelial cell migration, 268 366 316 247 378 275 278 299 226 ENSG00000076242 chr3 36993332 37050918 + MLH1 protein_coding The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]. 4292 GO:0032389, GO:0032300, GO:0016020, GO:0005715, GO:0005712, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001673, GO:0000795, MutLalpha complex, mismatch repair complex, membrane, late recombination nodule, chiasma, nucleoplasm, nucleoplasm, nucleus, nucleus, male germ cell nucleus, synaptonemal complex, GO:0032407, GO:0032137, GO:0019899, GO:0016887, GO:0005524, GO:0005515, GO:0005515, GO:0003697, GO:0003682, MutSalpha complex binding, guanine/thymine mispair binding, enzyme binding, ATPase activity, ATP binding, protein binding, protein binding, single-stranded DNA binding, chromatin binding, GO:0051257, GO:0048477, GO:0048304, GO:0048298, GO:0045950, GO:0045190, GO:0045141, GO:0043060, GO:0016446, GO:0016321, GO:0009617, GO:0008630, GO:0007283, GO:0007129, GO:0007060, GO:0006303, GO:0006298, GO:0006298, GO:0006298, GO:0000712, GO:0000289, meiotic spindle midzone assembly, oogenesis, positive regulation of isotype switching to IgG isotypes, positive regulation of isotype switching to IgA isotypes, negative regulation of mitotic recombination, isotype switching, meiotic telomere clustering, meiotic metaphase I plate congression, somatic hypermutation of immunoglobulin genes, female meiosis chromosome segregation, response to bacterium, intrinsic apoptotic signaling pathway in response to DNA damage, spermatogenesis, homologous chromosome pairing at meiosis, male meiosis chromosome segregation, double-strand break repair via nonhomologous end joining, mismatch repair, mismatch repair, mismatch repair, resolution of meiotic recombination intermediates, nuclear-transcribed mRNA poly(A) tail shortening, 118 102 165 87 61 97 80 71 71 ENSG00000076248 chr12 109097574 109110992 + UNG protein_coding This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]. 7374 GO:0005739, GO:0005654, GO:0005634, GO:0005634, mitochondrion, nucleoplasm, nucleus, nucleus, GO:0043024, GO:0005515, GO:0004844, GO:0004844, GO:0004844, GO:0003684, ribosomal small subunit binding, protein binding, uracil DNA N-glycosylase activity, uracil DNA N-glycosylase activity, uracil DNA N-glycosylase activity, damaged DNA binding, GO:0097510, GO:0097510, GO:0045190, GO:0045008, GO:0043066, GO:0016446, GO:0016032, GO:0006284, GO:0006281, base-excision repair, AP site formation via deaminated base removal, base-excision repair, AP site formation via deaminated base removal, isotype switching, depyrimidination, negative regulation of apoptotic process, somatic hypermutation of immunoglobulin genes, viral process, base-excision repair, DNA repair, 8 10 18 29 15 26 10 9 11 ENSG00000076258 chr1 171314208 171342084 + FMO4 protein_coding Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jan 2015]. 2329 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0050661, GO:0050660, GO:0005515, GO:0004499, GO:0004497, NADP binding, flavin adenine dinucleotide binding, protein binding, N,N-dimethylaniline monooxygenase activity, monooxygenase activity, GO:0055114, GO:0042737, oxidation-reduction process, drug catabolic process, 5 1 4 14 6 16 13 5 5 ENSG00000076321 chr1 173714941 173786702 + KLHL20 protein_coding The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]. 27252 GO:0048471, GO:0031463, GO:0030425, GO:0030424, GO:0016605, GO:0016605, GO:0015629, GO:0005829, GO:0005829, GO:0005802, GO:0005802, GO:0005794, GO:0005737, perinuclear region of cytoplasm, Cul3-RING ubiquitin ligase complex, dendrite, axon, PML body, PML body, actin cytoskeleton, cytosol, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, cytoplasm, GO:0019964, GO:0019964, GO:0005515, GO:0004842, GO:0004842, GO:0003779, interferon-gamma binding, interferon-gamma binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, actin binding, GO:1990390, GO:1990390, GO:0043687, GO:0043161, GO:0043161, GO:0043066, GO:0035455, GO:0016567, GO:0015031, GO:0007010, GO:0006895, GO:0006895, protein K33-linked ubiquitination, protein K33-linked ubiquitination, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, response to interferon-alpha, protein ubiquitination, protein transport, cytoskeleton organization, Golgi to endosome transport, Golgi to endosome transport, 29 43 62 85 34 85 67 34 51 ENSG00000076344 chr16 268301 275980 - RGS11 protein_coding The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]. 8786 GO:0032991, GO:0005886, protein-containing complex, plasma membrane, GO:0031681, GO:0005096, GO:0003924, G-protein beta-subunit binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0035556, GO:0009968, GO:0008277, GO:0007186, positive regulation of GTPase activity, intracellular signal transduction, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 0 0 0 1 0 0 0 0 ENSG00000076351 chr17 28394756 28407197 - SLC46A1 protein_coding This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]. 113235 GO:0031526, GO:0016324, GO:0016323, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005737, brush border membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, cytoplasm, GO:0015350, GO:0015232, GO:0015232, GO:0015078, GO:0008517, GO:0008517, GO:0008517, GO:0005542, methotrexate transmembrane transporter activity, heme transmembrane transporter activity, heme transmembrane transporter activity, proton transmembrane transporter activity, folic acid transmembrane transporter activity, folic acid transmembrane transporter activity, folic acid transmembrane transporter activity, folic acid binding, GO:1904447, GO:1902600, GO:0098829, GO:0051958, GO:0051958, GO:0046655, GO:0015886, GO:0015884, GO:0015884, GO:0006879, folate import across plasma membrane, proton transmembrane transport, intestinal folate absorption, methotrexate transport, methotrexate transport, folic acid metabolic process, heme transport, folic acid transport, folic acid transport, cellular iron ion homeostasis, 32 25 30 66 40 78 68 38 22 ENSG00000076356 chr1 208022242 208244320 - PLXNA2 protein_coding This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]. 5362 GO:0005887, GO:0005887, GO:0005886, GO:0002116, GO:0002116, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, semaphorin receptor complex, semaphorin receptor complex, GO:0042802, GO:0017154, GO:0017154, GO:0005515, identical protein binding, semaphorin receptor activity, semaphorin receptor activity, protein binding, GO:1902287, GO:0071526, GO:0060174, GO:0060037, GO:0051642, GO:0050772, GO:0043087, GO:0030334, GO:0030334, GO:0021935, GO:0021915, GO:0008360, GO:0007162, GO:0001756, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway, limb bud formation, pharyngeal system development, centrosome localization, positive regulation of axonogenesis, regulation of GTPase activity, regulation of cell migration, regulation of cell migration, cerebellar granule cell precursor tangential migration, neural tube development, regulation of cell shape, negative regulation of cell adhesion, somitogenesis, 230 87 336 150 77 288 196 39 194 ENSG00000076382 chr17 28577565 28599279 - SPAG5 protein_coding This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]. 10615 GO:0097431, GO:0072686, GO:0035371, GO:0034451, GO:0030496, GO:0005737, GO:0000777, GO:0000776, mitotic spindle pole, mitotic spindle, microtubule plus-end, centriolar satellite, midbody, cytoplasm, condensed chromosome kinetochore, kinetochore, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:1905832, GO:0090235, GO:0071539, GO:0051988, GO:0051301, GO:0032388, GO:0007059, GO:0007051, GO:0000070, positive regulation of spindle assembly, regulation of metaphase plate congression, protein localization to centrosome, regulation of attachment of spindle microtubules to kinetochore, cell division, positive regulation of intracellular transport, chromosome segregation, spindle organization, mitotic sister chromatid segregation, 36 29 46 88 59 100 78 41 53 ENSG00000076513 chr12 109999186 110039763 + ANKRD13A protein_coding 88455 GO:0048471, GO:0005886, GO:0005770, GO:0005737, GO:0005737, perinuclear region of cytoplasm, plasma membrane, late endosome, cytoplasm, cytoplasm, GO:0140036, GO:0140036, ubiquitin-dependent protein binding, ubiquitin-dependent protein binding, GO:1905667, GO:0002091, negative regulation of protein localization to endosome, negative regulation of receptor internalization, 3996 3770 5143 2349 3507 3628 2564 2855 3031 ENSG00000076554 chr8 80034745 80231232 - TPD52 protein_coding 7163 GO:0048471, GO:0005783, GO:0005737, perinuclear region of cytoplasm, endoplasmic reticulum, cytoplasm, GO:0042803, GO:0005515, GO:0005509, protein homodimerization activity, protein binding, calcium ion binding, GO:0046903, GO:0030183, GO:0009653, secretion, B cell differentiation, anatomical structure morphogenesis, 9 4 27 49 18 42 35 26 51 ENSG00000076555 chr12 109116595 109268226 + ACACB protein_coding Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]. 32 GO:0005829, GO:0005741, GO:0005739, GO:0005634, cytosol, mitochondrial outer membrane, mitochondrion, nucleus, GO:0046872, GO:0042802, GO:0009374, GO:0005524, GO:0005515, GO:0003989, metal ion binding, identical protein binding, biotin binding, ATP binding, protein binding, acetyl-CoA carboxylase activity, GO:2001295, GO:0097009, GO:0060421, GO:0051289, GO:0045540, GO:0043086, GO:0042493, GO:0031999, GO:0031667, GO:0031325, GO:0014070, GO:0010906, GO:0010884, GO:0010629, GO:0006853, GO:0006633, GO:0006084, malonyl-CoA biosynthetic process, energy homeostasis, positive regulation of heart growth, protein homotetramerization, regulation of cholesterol biosynthetic process, negative regulation of catalytic activity, response to drug, negative regulation of fatty acid beta-oxidation, response to nutrient levels, positive regulation of cellular metabolic process, response to organic cyclic compound, regulation of glucose metabolic process, positive regulation of lipid storage, negative regulation of gene expression, carnitine shuttle, fatty acid biosynthetic process, acetyl-CoA metabolic process, 66 122 149 48 87 104 62 58 71 ENSG00000076604 chr17 28743984 28750958 + TRAF4 protein_coding This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. 9618 GO:0098802, GO:0048471, GO:0005923, GO:0005886, GO:0005856, GO:0005737, GO:0005634, plasma membrane signaling receptor complex, perinuclear region of cytoplasm, bicellular tight junction, plasma membrane, cytoskeleton, cytoplasm, nucleus, GO:0050699, GO:0042802, GO:0031996, GO:0031625, GO:0019901, GO:0008270, GO:0005515, GO:0005164, WW domain binding, identical protein binding, thioesterase binding, ubiquitin protein ligase binding, protein kinase binding, zinc ion binding, protein binding, tumor necrosis factor receptor binding, GO:0070534, GO:0046330, GO:0046330, GO:0045860, GO:0043122, GO:0042981, GO:0033209, GO:0030323, GO:0007585, GO:0007250, GO:0006915, protein K63-linked ubiquitination, positive regulation of JNK cascade, positive regulation of JNK cascade, positive regulation of protein kinase activity, regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, respiratory tube development, respiratory gaseous exchange by respiratory system, activation of NF-kappaB-inducing kinase activity, apoptotic process, 116 112 243 387 249 373 417 194 247 ENSG00000076641 chr8 80967810 81112068 - PAG1 protein_coding The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]. 55824 GO:0045121, GO:0045121, GO:0016021, GO:0005886, GO:0005886, membrane raft, membrane raft, integral component of membrane, plasma membrane, plasma membrane, GO:0042169, GO:0042169, GO:0035591, GO:0005515, SH2 domain binding, SH2 domain binding, signaling adaptor activity, protein binding, GO:0050868, GO:0050863, GO:0050852, GO:0035556, GO:0035556, GO:0007165, GO:0002250, negative regulation of T cell activation, regulation of T cell activation, T cell receptor signaling pathway, intracellular signal transduction, intracellular signal transduction, signal transduction, adaptive immune response, 1984 1069 1704 1113 704 867 1248 558 683 ENSG00000076650 chr19 33080880 33130542 + GPATCH1 protein_coding 55094 GO:0071013, GO:0005634, catalytic step 2 spliceosome, nucleus, GO:0003723, RNA binding, GO:0000398, mRNA splicing, via spliceosome, 66 91 67 73 139 103 63 79 115 ENSG00000076662 chr19 10333776 10339823 - ICAM3 protein_coding The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]. 3385 GO:0070062, GO:0005887, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005178, GO:0005178, GO:0005102, protein binding, integrin binding, integrin binding, signaling receptor binding, GO:0098609, GO:0050776, GO:0030198, GO:0007155, GO:0006909, GO:0002223, cell-cell adhesion, regulation of immune response, extracellular matrix organization, cell adhesion, phagocytosis, stimulatory C-type lectin receptor signaling pathway, 12397 11919 15946 3197 6833 4449 4248 6603 4561 ENSG00000076685 chr10 103088017 103193306 - NT5C2 protein_coding This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]. 22978 GO:0005829, cytosol, GO:0046872, GO:0008253, GO:0005515, GO:0000166, metal ion binding, 5'-nucleotidase activity, protein binding, nucleotide binding, GO:0046085, GO:0046040, GO:0017144, GO:0016311, GO:0006195, adenosine metabolic process, IMP metabolic process, drug metabolic process, dephosphorylation, purine nucleotide catabolic process, 4191 4032 4548 2561 3955 3244 2733 2861 2840 ENSG00000076706 chr11 119308529 119321521 - MCAM protein_coding 4162 GO:0016021, GO:0009897, GO:0005925, GO:0005886, GO:0005634, GO:0005615, GO:0005576, integral component of membrane, external side of plasma membrane, focal adhesion, plasma membrane, nucleus, extracellular space, extracellular region, GO:0061042, GO:0030335, GO:0009653, GO:0007155, GO:0003094, GO:0001525, vascular wound healing, positive regulation of cell migration, anatomical structure morphogenesis, cell adhesion, glomerular filtration, angiogenesis, 6 10 11 6 29 18 13 11 15 ENSG00000076716 chrX 133300103 133415490 - GPC4 protein_coding Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008]. 2239 GO:0099026, GO:0098978, GO:0070062, GO:0062023, GO:0045202, GO:0043202, GO:0009986, GO:0009897, GO:0005886, GO:0005796, GO:0005634, GO:0005576, anchored component of presynaptic membrane, glutamatergic synapse, extracellular exosome, collagen-containing extracellular matrix, synapse, lysosomal lumen, cell surface, external side of plasma membrane, plasma membrane, Golgi lumen, nucleus, extracellular region, GO:1904929, GO:0005515, coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway, protein binding, GO:1905606, GO:1905475, GO:0099560, GO:0098696, GO:0060071, GO:0016477, GO:0016055, GO:0009966, GO:0006027, GO:0006024, GO:0001523, regulation of presynapse assembly, regulation of protein localization to membrane, synaptic membrane adhesion, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, Wnt signaling pathway, planar cell polarity pathway, cell migration, Wnt signaling pathway, regulation of signal transduction, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, retinoid metabolic process, 0 5 8 0 3 3 0 0 1 ENSG00000076770 chrX 132369317 132489968 - MBNL3 protein_coding This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]. 55796 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0046872, GO:0005515, GO:0003723, GO:0003723, metal ion binding, protein binding, RNA binding, RNA binding, GO:0045662, GO:0043484, GO:0008380, GO:0007275, GO:0006397, GO:0000381, negative regulation of myoblast differentiation, regulation of RNA splicing, RNA splicing, multicellular organism development, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, 52 44 85 161 66 178 134 47 118 ENSG00000076826 chr19 7595902 7618304 + CAMSAP3 protein_coding 57662 GO:0036449, GO:0036449, GO:0036064, GO:0031514, GO:0005930, GO:0005915, GO:0005813, GO:0005813, GO:0005737, GO:0005654, microtubule minus-end, microtubule minus-end, ciliary basal body, motile cilium, axoneme, zonula adherens, centrosome, centrosome, cytoplasm, nucleoplasm, GO:0051015, GO:0051011, GO:0051011, GO:0030507, GO:0005516, GO:0005515, actin filament binding, microtubule minus-end binding, microtubule minus-end binding, spectrin binding, calmodulin binding, protein binding, GO:1903358, GO:0098840, GO:0090136, GO:0070507, GO:0051893, GO:0045218, GO:0045198, GO:0034453, GO:0033043, GO:0031175, GO:0031122, GO:0031113, GO:0030951, GO:0030334, GO:0010923, GO:0009792, GO:0007026, GO:0003341, GO:0000226, GO:0000226, regulation of Golgi organization, protein transport along microtubule, epithelial cell-cell adhesion, regulation of microtubule cytoskeleton organization, regulation of focal adhesion assembly, zonula adherens maintenance, establishment of epithelial cell apical/basal polarity, microtubule anchoring, regulation of organelle organization, neuron projection development, cytoplasmic microtubule organization, regulation of microtubule polymerization, establishment or maintenance of microtubule cytoskeleton polarity, regulation of cell migration, negative regulation of phosphatase activity, embryo development ending in birth or egg hatching, negative regulation of microtubule depolymerization, cilium movement, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 0 0 1 2 2 0 1 0 0 ENSG00000076864 chr1 21596215 21669363 - RAP1GAP protein_coding This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]. 5909 GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0000139, membrane, membrane, cytosol, cytosol, cytoplasm, Golgi membrane, GO:0042803, GO:0031267, GO:0005515, GO:0005096, GO:0005096, GO:0003924, protein homodimerization activity, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GTPase activity, GO:1903697, GO:0090630, GO:0051056, GO:0043547, GO:0043087, GO:0007411, GO:0007165, negative regulation of microvillus assembly, activation of GTPase activity, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of GTPase activity, axon guidance, signal transduction, 37 32 41 33 26 24 34 23 20 ENSG00000076924 chr19 7619525 7629565 - XAB2 protein_coding 56949 GO:0071014, GO:0071013, GO:0071007, GO:0071007, GO:0043231, GO:0016020, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000974, post-mRNA release spliceosomal complex, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, intracellular membrane-bounded organelle, membrane, nucleoplasm, nucleoplasm, nucleus, nucleus, Prp19 complex, GO:0005515, protein binding, GO:0021987, GO:0006351, GO:0006283, GO:0006283, GO:0001824, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000349, cerebral cortex development, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, blastocyst development, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, generation of catalytic spliceosome for first transesterification step, 760 795 941 643 752 860 615 652 687 ENSG00000076928 chr19 41883161 41930150 + ARHGEF1 protein_coding Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]. 9138 GO:0005886, GO:0005829, GO:0005829, GO:0005737, plasma membrane, cytosol, cytosol, cytoplasm, GO:0005515, GO:0005096, GO:0005085, GO:0003723, GO:0001664, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, RNA binding, G protein-coupled receptor binding, GO:0051056, GO:0043547, GO:0043065, GO:0007266, GO:0007186, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, positive regulation of apoptotic process, Rho protein signal transduction, G protein-coupled receptor signaling pathway, 6237 6612 8710 7773 7897 9370 7269 5554 7726 ENSG00000076944 chr19 7636881 7647873 + STXBP2 protein_coding This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]. 6813 GO:0098793, GO:0070820, GO:0070062, GO:0045335, GO:0044194, GO:0042589, GO:0042582, GO:0042581, GO:0030141, GO:0016324, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005576, presynapse, tertiary granule, extracellular exosome, phagocytic vesicle, cytolytic granule, zymogen granule membrane, azurophil granule, specific granule, secretory granule, apical plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, extracellular region, GO:0030348, GO:0030348, GO:0019905, GO:0017075, GO:0005515, syntaxin-3 binding, syntaxin-3 binding, syntaxin binding, syntaxin-1 binding, protein binding, GO:0071346, GO:0043312, GO:0043304, GO:0016192, GO:0007269, GO:0006904, GO:0006886, GO:0002576, GO:0001909, cellular response to interferon-gamma, neutrophil degranulation, regulation of mast cell degranulation, vesicle-mediated transport, neurotransmitter secretion, vesicle docking involved in exocytosis, intracellular protein transport, platelet degranulation, leukocyte mediated cytotoxicity, 2266 2872 2908 1889 2602 2540 2260 2013 2212 ENSG00000076984 chr19 7903843 7914478 + MAP2K7 protein_coding The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 5609 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0019903, GO:0019901, GO:0019899, GO:0008545, GO:0005524, GO:0005515, GO:0004713, GO:0004708, GO:0004708, GO:0004674, GO:0000287, protein phosphatase binding, protein kinase binding, enzyme binding, JUN kinase kinase activity, ATP binding, protein binding, protein tyrosine kinase activity, MAP kinase kinase activity, MAP kinase kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:1904355, GO:0070374, GO:0051973, GO:0051403, GO:0045893, GO:0038095, GO:0034612, GO:0032212, GO:0018108, GO:0009411, GO:0009408, GO:0007257, GO:0007257, GO:0007254, GO:0007165, GO:0006970, GO:0006915, GO:0000187, positive regulation of telomere capping, positive regulation of ERK1 and ERK2 cascade, positive regulation of telomerase activity, stress-activated MAPK cascade, positive regulation of transcription, DNA-templated, Fc-epsilon receptor signaling pathway, response to tumor necrosis factor, positive regulation of telomere maintenance via telomerase, peptidyl-tyrosine phosphorylation, response to UV, response to heat, activation of JUN kinase activity, activation of JUN kinase activity, JNK cascade, signal transduction, response to osmotic stress, apoptotic process, activation of MAPK activity, 1020 1070 1238 783 1135 906 871 799 834 ENSG00000077009 chr19 3933103 3942416 + NMRK2 protein_coding 27231 GO:0043231, GO:0005886, GO:0005829, GO:0005654, intracellular membrane-bounded organelle, plasma membrane, cytosol, nucleoplasm, GO:0061769, GO:0050262, GO:0046872, GO:0016301, GO:0005524, GO:0005515, ribosylnicotinate kinase activity, ribosylnicotinamide kinase activity, metal ion binding, kinase activity, ATP binding, protein binding, GO:0045662, GO:0019674, GO:0016310, GO:0009435, negative regulation of myoblast differentiation, NAD metabolic process, phosphorylation, NAD biosynthetic process, 0 1 0 0 0 0 1 0 0 ENSG00000077044 chr2 233354507 233472104 + DGKD protein_coding This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 8527 GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005634, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleus, GO:0046982, GO:0046872, GO:0042803, GO:0042802, GO:0019992, GO:0019900, GO:0005524, GO:0005515, GO:0004143, GO:0004143, GO:0004143, GO:0003951, protein heterodimerization activity, metal ion binding, protein homodimerization activity, identical protein binding, diacylglycerol binding, kinase binding, ATP binding, protein binding, diacylglycerol kinase activity, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:2000370, GO:0090038, GO:0046834, GO:0046834, GO:0046834, GO:0046339, GO:0046339, GO:0046339, GO:0046339, GO:0045742, GO:0035556, GO:0030168, GO:0019932, GO:0015031, GO:0010033, GO:0007275, GO:0007205, GO:0007173, GO:0007165, GO:0006897, GO:0006654, positive regulation of clathrin-dependent endocytosis, negative regulation of protein kinase C signaling, lipid phosphorylation, lipid phosphorylation, lipid phosphorylation, diacylglycerol metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, positive regulation of epidermal growth factor receptor signaling pathway, intracellular signal transduction, platelet activation, second-messenger-mediated signaling, protein transport, response to organic substance, multicellular organism development, protein kinase C-activating G protein-coupled receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, endocytosis, phosphatidic acid biosynthetic process, 684 894 938 789 900 777 797 702 623 ENSG00000077063 chr7 117710651 117874139 - CTTNBP2 protein_coding This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]. 83992 GO:0098978, GO:0043197, GO:0008021, GO:0005938, glutamatergic synapse, dendritic spine, synaptic vesicle, cell cortex, GO:0017124, GO:0005515, SH3 domain binding, protein binding, GO:0050807, GO:0007420, regulation of synapse organization, brain development, 0 0 0 0 0 1 0 0 0 ENSG00000077080 chr7 100643097 100656461 - ACTL6B protein_coding The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 51412 GO:0071565, GO:0035267, GO:0016514, GO:0016514, GO:0016514, GO:0005634, nBAF complex, NuA4 histone acetyltransferase complex, SWI/SNF complex, SWI/SNF complex, SWI/SNF complex, nucleus, GO:0005200, GO:0003713, GO:0003682, structural constituent of cytoskeleton, transcription coactivator activity, chromatin binding, GO:1903508, GO:0043967, GO:0043044, GO:0042551, GO:0021510, GO:0016358, GO:0007399, GO:0007010, GO:0006357, GO:0006357, GO:0006338, GO:0006325, positive regulation of nucleic acid-templated transcription, histone H4 acetylation, ATP-dependent chromatin remodeling, neuron maturation, spinal cord development, dendrite development, nervous system development, cytoskeleton organization, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, chromatin organization, 0 3 0 0 1 0 0 0 0 ENSG00000077092 chr3 25174332 25597932 + RARB protein_coding This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]. 5915 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0046965, GO:0044877, GO:0008270, GO:0008144, GO:0004879, GO:0003677, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, retinoid X receptor binding, protein-containing complex binding, zinc ion binding, drug binding, nuclear receptor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0055012, GO:0048566, GO:0048384, GO:0048048, GO:0045944, GO:0045666, GO:0043066, GO:0043065, GO:0035264, GO:0035116, GO:0032331, GO:0031641, GO:0030154, GO:0021756, GO:0009755, GO:0008285, GO:0007165, GO:0006367, GO:0003417, GO:0003148, GO:0002068, GO:0001657, GO:0000122, ventricular cardiac muscle cell differentiation, embryonic digestive tract development, retinoic acid receptor signaling pathway, embryonic eye morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, negative regulation of apoptotic process, positive regulation of apoptotic process, multicellular organism growth, embryonic hindlimb morphogenesis, negative regulation of chondrocyte differentiation, regulation of myelination, cell differentiation, striatum development, hormone-mediated signaling pathway, negative regulation of cell population proliferation, signal transduction, transcription initiation from RNA polymerase II promoter, growth plate cartilage development, outflow tract septum morphogenesis, glandular epithelial cell development, ureteric bud development, negative regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 1 2 0 ENSG00000077097 chr3 25597905 25664907 - TOP2B protein_coding This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. 7155 GO:1990904, GO:0005829, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000792, ribonucleoprotein complex, cytosol, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, heterochromatin, GO:0046982, GO:0046872, GO:0042826, GO:0019899, GO:0008022, GO:0005524, GO:0005080, GO:0003918, GO:0003682, GO:0003677, protein heterodimerization activity, metal ion binding, histone deacetylase binding, enzyme binding, protein C-terminus binding, ATP binding, protein kinase C binding, DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity, chromatin binding, DNA binding, GO:0045870, GO:0044774, GO:0030900, GO:0007409, GO:0006265, GO:0001764, GO:0000819, GO:0000712, positive regulation of single stranded viral RNA replication via double stranded DNA intermediate, mitotic DNA integrity checkpoint, forebrain development, axonogenesis, DNA topological change, neuron migration, sister chromatid segregation, resolution of meiotic recombination intermediates, 1136 1113 1509 776 732 963 794 512 715 ENSG00000077147 chr10 96518109 96587452 - TM9SF3 protein_coding 56889 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0072657, protein localization to membrane, 1563 1289 1654 953 880 978 949 741 683 ENSG00000077150 chr10 102394110 102402529 + NFKB2 protein_coding This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 4791 GO:0033257, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, Bcl3/NF-kappaB2 complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051092, GO:0048536, GO:0048511, GO:0045944, GO:0038061, GO:0034097, GO:0032496, GO:0032481, GO:0030198, GO:0007568, GO:0006357, GO:0006355, GO:0002467, GO:0002268, positive regulation of NF-kappaB transcription factor activity, spleen development, rhythmic process, positive regulation of transcription by RNA polymerase II, NIK/NF-kappaB signaling, response to cytokine, response to lipopolysaccharide, positive regulation of type I interferon production, extracellular matrix organization, aging, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, germinal center formation, follicular dendritic cell differentiation, 4117 4038 10607 6245 6628 13583 7518 5016 11019 ENSG00000077152 chr1 202331657 202341980 - UBE2T protein_coding The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. 29089 GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0061631, GO:0061631, GO:0031625, GO:0005524, GO:0005515, GO:0004842, GO:0003682, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, chromatin binding, GO:0085020, GO:0070979, GO:0070936, GO:0070534, GO:0051865, GO:0044314, GO:0036297, GO:0035519, GO:0016567, GO:0006974, GO:0006974, GO:0006513, GO:0006281, GO:0000209, protein K6-linked ubiquitination, protein K11-linked ubiquitination, protein K48-linked ubiquitination, protein K63-linked ubiquitination, protein autoubiquitination, protein K27-linked ubiquitination, interstrand cross-link repair, protein K29-linked ubiquitination, protein ubiquitination, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, protein monoubiquitination, DNA repair, protein polyubiquitination, 2 3 3 2 0 6 3 2 0 ENSG00000077157 chr1 202348699 202592706 + PPP1R12B protein_coding Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011]. 4660 GO:0031672, GO:0031672, GO:0030018, GO:0030018, GO:0005856, GO:0005829, GO:0005737, GO:0005654, A band, A band, Z disc, Z disc, cytoskeleton, cytosol, cytoplasm, nucleoplasm, GO:0019901, GO:0019208, GO:0008047, GO:0005515, GO:0004857, protein kinase binding, phosphatase regulator activity, enzyme activator activity, protein binding, enzyme inhibitor activity, GO:0043086, GO:0043085, GO:0007165, GO:0006937, GO:0000086, negative regulation of catalytic activity, positive regulation of catalytic activity, signal transduction, regulation of muscle contraction, G2/M transition of mitotic cell cycle, 2130 2847 2827 1574 3232 2810 2460 2338 2360 ENSG00000077232 chr2 182716041 182794464 + DNAJC10 protein_coding This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]. 54431 GO:0034663, GO:0016020, GO:0005788, GO:0005783, endoplasmic reticulum chaperone complex, membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0051787, GO:0051117, GO:0051087, GO:0030544, GO:0016671, GO:0015036, GO:0015035, GO:0015035, GO:0005515, GO:0001671, misfolded protein binding, ATPase binding, chaperone binding, Hsp70 protein binding, oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor, disulfide oxidoreductase activity, protein disulfide oxidoreductase activity, protein disulfide oxidoreductase activity, protein binding, ATPase activator activity, GO:0070059, GO:0055114, GO:0034976, GO:0034975, GO:0032781, GO:0030433, GO:0001933, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, oxidation-reduction process, response to endoplasmic reticulum stress, protein folding in endoplasmic reticulum, positive regulation of ATPase activity, ubiquitin-dependent ERAD pathway, negative regulation of protein phosphorylation, 137 124 172 203 174 282 190 145 156 ENSG00000077235 chr16 27459555 27549913 - GTF3C1 protein_coding 2975 GO:1990904, GO:0016020, GO:0005730, GO:0005654, GO:0005654, GO:0000127, GO:0000127, ribonucleoprotein complex, membrane, nucleolus, nucleoplasm, nucleoplasm, transcription factor TFIIIC complex, transcription factor TFIIIC complex, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0042797, GO:0042791, GO:0042791, GO:0009304, GO:0009303, GO:0006384, GO:0006383, tRNA transcription by RNA polymerase III, 5S class rRNA transcription by RNA polymerase III, 5S class rRNA transcription by RNA polymerase III, tRNA transcription, rRNA transcription, transcription initiation from RNA polymerase III promoter, transcription by RNA polymerase III, 369 401 636 351 362 385 378 240 312 ENSG00000077238 chr16 27313668 27364778 + IL4R protein_coding This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]. 3566 GO:0043235, GO:0034451, GO:0005887, GO:0005886, GO:0005886, GO:0005654, GO:0005615, receptor complex, centriolar satellite, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, extracellular space, GO:0005515, GO:0004913, protein binding, interleukin-4 receptor activity, GO:1990834, GO:1901741, GO:0120162, GO:0045630, GO:0045626, GO:0043627, GO:0043306, GO:0043032, GO:0042832, GO:0042127, GO:0035771, GO:0030728, GO:0019221, GO:0016064, GO:0007165, GO:0006955, GO:0002639, GO:0002532, response to odorant, positive regulation of myoblast fusion, positive regulation of cold-induced thermogenesis, positive regulation of T-helper 2 cell differentiation, negative regulation of T-helper 1 cell differentiation, response to estrogen, positive regulation of mast cell degranulation, positive regulation of macrophage activation, defense response to protozoan, regulation of cell population proliferation, interleukin-4-mediated signaling pathway, ovulation, cytokine-mediated signaling pathway, immunoglobulin mediated immune response, signal transduction, immune response, positive regulation of immunoglobulin production, production of molecular mediator involved in inflammatory response, 3018 1950 4151 1952 1562 2195 1960 1065 1571 ENSG00000077254 chr1 77695987 77759852 - USP33 protein_coding This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]. 23032 GO:0048471, GO:0044297, GO:0030891, GO:0005925, GO:0005829, GO:0005813, GO:0005794, GO:0005737, GO:0005737, GO:0005654, perinuclear region of cytoplasm, cell body, VCB complex, focal adhesion, cytosol, centrosome, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, GO:0043130, GO:0031267, GO:0008270, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004197, GO:0001664, ubiquitin binding, small GTPase binding, zinc ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, G protein-coupled receptor binding, GO:0071108, GO:0070536, GO:0051298, GO:0050821, GO:0032092, GO:0032091, GO:0016579, GO:0016579, GO:0016579, GO:0016477, GO:0010506, GO:0009267, GO:0008277, GO:0007411, GO:0006897, GO:0006511, protein K48-linked deubiquitination, protein K63-linked deubiquitination, centrosome duplication, protein stabilization, positive regulation of protein binding, negative regulation of protein binding, protein deubiquitination, protein deubiquitination, protein deubiquitination, cell migration, regulation of autophagy, cellular response to starvation, regulation of G protein-coupled receptor signaling pathway, axon guidance, endocytosis, ubiquitin-dependent protein catabolic process, 509 459 549 559 661 626 505 452 521 ENSG00000077264 chrX 110944285 111227361 + PAK3 protein_coding The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017]. 5063 GO:0005886, GO:0005829, GO:0005768, GO:0005737, plasma membrane, cytosol, endosome, cytoplasm, GO:0106311, GO:0106310, GO:0046872, GO:0031267, GO:0017124, GO:0005524, GO:0005515, GO:0004708, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, small GTPase binding, SH3 domain binding, ATP binding, protein binding, MAP kinase kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000573, GO:0071407, GO:0061003, GO:0060997, GO:0060997, GO:0050852, GO:0050808, GO:0050770, GO:0048013, GO:0043525, GO:0032147, GO:0031295, GO:0031098, GO:0030833, GO:0023014, GO:0016358, GO:0010763, GO:0007409, GO:0002223, GO:0000187, GO:0000165, positive regulation of DNA biosynthetic process, cellular response to organic cyclic compound, positive regulation of dendritic spine morphogenesis, dendritic spine morphogenesis, dendritic spine morphogenesis, T cell receptor signaling pathway, synapse organization, regulation of axonogenesis, ephrin receptor signaling pathway, positive regulation of neuron apoptotic process, activation of protein kinase activity, T cell costimulation, stress-activated protein kinase signaling cascade, regulation of actin filament polymerization, signal transduction by protein phosphorylation, dendrite development, positive regulation of fibroblast migration, axonogenesis, stimulatory C-type lectin receptor signaling pathway, activation of MAPK activity, MAPK cascade, 4 0 1 2 0 3 1 0 0 ENSG00000077274 chrX 111245103 111270523 - CAPN6 protein_coding Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]. 827 GO:0048471, GO:0005876, GO:0005737, perinuclear region of cytoplasm, spindle microtubule, cytoplasm, GO:0008017, GO:0005515, GO:0004198, microtubule binding, protein binding, calcium-dependent cysteine-type endopeptidase activity, GO:0051493, GO:0006508, GO:0001578, regulation of cytoskeleton organization, proteolysis, microtubule bundle formation, 0 0 0 0 0 0 0 0 0 ENSG00000077279 chrX 111293779 111412429 - DCX protein_coding This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ('double cortex' syndrome) in females and lissencephaly ('smooth brain' syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]. 1641 GO:0043005, GO:0005930, GO:0005875, GO:0005874, GO:0005856, GO:0005829, neuron projection, axoneme, microtubule associated complex, microtubule, cytoskeleton, cytosol, GO:0019901, GO:0008017, GO:0008017, GO:0005515, protein kinase binding, microtubule binding, microtubule binding, protein binding, GO:0060041, GO:0042461, GO:0035556, GO:0035082, GO:0007417, GO:0007399, GO:0001764, retina development in camera-type eye, photoreceptor cell development, intracellular signal transduction, axoneme assembly, central nervous system development, nervous system development, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000077312 chr19 40750637 40765389 + SNRPA protein_coding The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]. 6626 GO:0005685, GO:0005685, GO:0005681, GO:0005654, GO:0005654, U1 snRNP, U1 snRNP, spliceosomal complex, nucleoplasm, nucleoplasm, GO:1990446, GO:0042802, GO:0030619, GO:0030619, GO:0005515, GO:0003723, GO:0003723, U1 snRNP binding, identical protein binding, U1 snRNA binding, U1 snRNA binding, protein binding, RNA binding, RNA binding, GO:1900363, GO:0000398, GO:0000398, GO:0000398, regulation of mRNA polyadenylation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 34 59 58 145 77 99 112 87 139 ENSG00000077327 chr10 22345445 22454224 + SPAG6 protein_coding The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 9576 GO:0097228, GO:0015630, GO:0005930, GO:0005930, GO:0005874, GO:0005634, sperm principal piece, microtubule cytoskeleton, axoneme, axoneme, microtubule, nucleus, GO:0030030, cell projection organization, 12 4 7 15 7 0 7 6 0 ENSG00000077348 chr19 41386374 41397479 - EXOSC5 protein_coding 56915 GO:0035327, GO:0005829, GO:0005737, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0000178, GO:0000177, GO:0000176, transcriptionally active chromatin, cytosol, cytoplasm, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleoplasm, exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), GO:0005515, GO:0004532, GO:0003723, GO:0000175, protein binding, exoribonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0071051, GO:0071028, GO:0051607, GO:0045006, GO:0043928, GO:0043928, GO:0043488, GO:0034475, GO:0034427, GO:0016075, GO:0006364, GO:0006364, RNA phosphodiester bond hydrolysis, exonucleolytic, polyadenylation-dependent snoRNA 3'-end processing, nuclear mRNA surveillance, defense response to virus, DNA deamination, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, U4 snRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', rRNA catabolic process, rRNA processing, rRNA processing, 12 3 11 33 20 29 9 11 18 ENSG00000077380 chr2 171687409 171748420 + DYNC1I2 protein_coding This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 1781 GO:0031982, GO:0005874, GO:0005868, GO:0005829, GO:0005813, GO:0005737, vesicle, microtubule, cytoplasmic dynein complex, cytosol, centrosome, cytoplasm, GO:0045504, GO:0045503, GO:0005515, GO:0003777, dynein heavy chain binding, dynein light chain binding, protein binding, microtubule motor activity, GO:0097711, GO:0019886, GO:0016032, GO:0010970, GO:0010389, GO:0007018, GO:0007018, GO:0006888, GO:0000086, ciliary basal body-plasma membrane docking, antigen processing and presentation of exogenous peptide antigen via MHC class II, viral process, transport along microtubule, regulation of G2/M transition of mitotic cell cycle, microtubule-based movement, microtubule-based movement, endoplasmic reticulum to Golgi vesicle-mediated transport, G2/M transition of mitotic cell cycle, 22 19 35 80 45 103 55 34 53 ENSG00000077420 chr10 26438203 26567803 + APBB1IP protein_coding 54518 GO:0042101, GO:0030027, GO:0005925, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005829, T cell receptor complex, lamellipodium, focal adhesion, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, cytosol, GO:0005515, protein binding, GO:0045785, GO:0007165, GO:0002291, positive regulation of cell adhesion, signal transduction, T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, 5172 4473 5130 2520 3581 3112 3170 3267 3188 ENSG00000077454 chr7 100574011 100586153 - LRCH4 protein_coding This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]. 4034 GO:0016605, GO:0016605, PML body, PML body, GO:0005515, protein binding, GO:0007399, nervous system development, 864 994 1131 613 1052 921 699 884 940 ENSG00000077458 chr11 95768942 95790409 - FAM76B protein_coding 143684 GO:0016607, nuclear speck, GO:0005515, protein binding, 911 854 802 516 659 646 536 482 484 ENSG00000077463 chr19 4174109 4182604 - SIRT6 protein_coding This gene encodes a member of the sirtuin family of NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. 51548 GO:0099115, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, chromosome, subtelomeric region, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0070403, GO:0046969, GO:0046969, GO:0034979, GO:0019213, GO:0017136, GO:0008270, GO:0005515, GO:0004407, GO:0003956, GO:0003950, GO:0003714, GO:0003682, NAD+ binding, NAD-dependent histone deacetylase activity (H3-K9 specific), NAD-dependent histone deacetylase activity (H3-K9 specific), NAD-dependent protein deacetylase activity, deacetylase activity, NAD-dependent histone deacetylase activity, zinc ion binding, protein binding, histone deacetylase activity, NAD(P)+-protein-arginine ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, transcription corepressor activity, chromatin binding, GO:2000648, GO:1990619, GO:1905564, GO:1905555, GO:1905549, GO:1902732, GO:1901485, GO:0120162, GO:0070932, GO:0061647, GO:0048146, GO:0046325, GO:0045820, GO:0042593, GO:0032206, GO:0031940, GO:0031667, GO:0031648, GO:0010569, GO:0008285, GO:0006476, GO:0006471, GO:0006471, GO:0006284, GO:0003247, GO:0000122, positive regulation of stem cell proliferation, histone H3-K9 deacetylation, positive regulation of vascular endothelial cell proliferation, positive regulation blood vessel branching, positive regulation of subtelomeric heterochromatin assembly, positive regulation of chondrocyte proliferation, positive regulation of transcription factor catabolic process, positive regulation of cold-induced thermogenesis, histone H3 deacetylation, histone H3-K9 modification, positive regulation of fibroblast proliferation, negative regulation of glucose import, negative regulation of glycolytic process, glucose homeostasis, positive regulation of telomere maintenance, positive regulation of chromatin silencing at telomere, response to nutrient levels, protein destabilization, regulation of double-strand break repair via homologous recombination, negative regulation of cell population proliferation, protein deacetylation, protein ADP-ribosylation, protein ADP-ribosylation, base-excision repair, post-embryonic cardiac muscle cell growth involved in heart morphogenesis, negative regulation of transcription by RNA polymerase II, 165 248 246 151 261 213 145 230 217 ENSG00000077498 chr11 89177452 89295759 + TYR protein_coding The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]. 7299 GO:0048471, GO:0043231, GO:0042470, GO:0033162, GO:0016021, GO:0005829, GO:0005798, GO:0005764, GO:0005737, GO:0005634, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, melanosome, melanosome membrane, integral component of membrane, cytosol, Golgi-associated vesicle, lysosome, cytoplasm, nucleus, GO:0042803, GO:0042802, GO:0005515, GO:0005507, GO:0004503, GO:0004503, protein homodimerization activity, identical protein binding, protein binding, copper ion binding, monophenol monooxygenase activity, monophenol monooxygenase activity, GO:0055114, GO:0051591, GO:0048538, GO:0043473, GO:0042438, GO:0042438, GO:0042438, GO:0033280, GO:0009637, GO:0009411, GO:0008283, GO:0007601, GO:0006726, GO:0006583, oxidation-reduction process, response to cAMP, thymus development, pigmentation, melanin biosynthetic process, melanin biosynthetic process, melanin biosynthetic process, response to vitamin D, response to blue light, response to UV, cell population proliferation, visual perception, eye pigment biosynthetic process, melanin biosynthetic process from tyrosine, 0 0 0 0 0 0 0 0 0 ENSG00000077514 chr11 74493851 74669117 + POLD3 protein_coding This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]. 10714 GO:0043625, GO:0043625, GO:0016035, GO:0005737, GO:0005654, GO:0005654, delta DNA polymerase complex, delta DNA polymerase complex, zeta DNA polymerase complex, cytoplasm, nucleoplasm, nucleoplasm, GO:0030674, GO:0005515, GO:0003887, protein-macromolecule adaptor activity, protein binding, DNA-directed DNA polymerase activity, GO:1904161, GO:0071897, GO:0042769, GO:0033683, GO:0032201, GO:0019985, GO:0006298, GO:0006298, GO:0006297, GO:0006297, GO:0006297, GO:0006296, GO:0006283, GO:0006271, GO:0000731, GO:0000723, DNA synthesis involved in UV-damage excision repair, DNA biosynthetic process, DNA damage response, detection of DNA damage, nucleotide-excision repair, DNA incision, telomere maintenance via semi-conservative replication, translesion synthesis, mismatch repair, mismatch repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA strand elongation involved in DNA replication, DNA synthesis involved in DNA repair, telomere maintenance, 259 174 210 172 179 175 165 127 149 ENSG00000077522 chr1 236686454 236764631 + ACTN2 protein_coding Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]. 88 GO:0098978, GO:0098839, GO:0070062, GO:0043197, GO:0031143, GO:0031093, GO:0030864, GO:0030175, GO:0030018, GO:0005925, GO:0005886, GO:0005884, GO:0005856, GO:0005829, GO:0005576, glutamatergic synapse, postsynaptic density membrane, extracellular exosome, dendritic spine, pseudopodium, platelet alpha granule lumen, cortical actin cytoskeleton, filopodium, Z disc, focal adhesion, plasma membrane, actin filament, cytoskeleton, cytosol, extracellular region, GO:0070080, GO:0070080, GO:0051373, GO:0051015, GO:0044325, GO:0042802, GO:0031432, GO:0030375, GO:0030274, GO:0019904, GO:0008307, GO:0008092, GO:0005546, GO:0005515, GO:0005509, GO:0005178, titin Z domain binding, titin Z domain binding, FATZ binding, actin filament binding, ion channel binding, identical protein binding, titin binding, thyroid hormone receptor coactivator activity, LIM domain binding, protein domain specific binding, structural constituent of muscle, cytoskeletal protein binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, calcium ion binding, integrin binding, GO:2001259, GO:2001137, GO:2000310, GO:2000009, GO:1903508, GO:1901018, GO:1901017, GO:0086097, GO:0072659, GO:0055013, GO:0051695, GO:0048041, GO:0045214, GO:0043268, GO:0043267, GO:0042981, GO:0042391, GO:0030049, GO:0030035, GO:0007155, GO:0002576, GO:0000165, positive regulation of cation channel activity, positive regulation of endocytic recycling, regulation of NMDA receptor activity, negative regulation of protein localization to cell surface, positive regulation of nucleic acid-templated transcription, positive regulation of potassium ion transmembrane transporter activity, negative regulation of potassium ion transmembrane transporter activity, phospholipase C-activating angiotensin-activated signaling pathway, protein localization to plasma membrane, cardiac muscle cell development, actin filament uncapping, focal adhesion assembly, sarcomere organization, positive regulation of potassium ion transport, negative regulation of potassium ion transport, regulation of apoptotic process, regulation of membrane potential, muscle filament sliding, microspike assembly, cell adhesion, platelet degranulation, MAPK cascade, 0 0 0 3 0 0 0 2 0 ENSG00000077549 chr1 19338776 19485539 - CAPZB protein_coding This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013]. 832 GO:0071203, GO:0070062, GO:0030017, GO:0015629, GO:0008290, GO:0005856, GO:0005829, WASH complex, extracellular exosome, sarcomere, actin cytoskeleton, F-actin capping protein complex, cytoskeleton, cytosol, GO:0051015, GO:0045296, GO:0005515, GO:0003779, actin filament binding, cadherin binding, protein binding, actin binding, GO:0051490, GO:0051016, GO:0030036, GO:0022604, GO:0019886, GO:0010591, GO:0007596, GO:0007010, GO:0006888, GO:0000902, negative regulation of filopodium assembly, barbed-end actin filament capping, actin cytoskeleton organization, regulation of cell morphogenesis, antigen processing and presentation of exogenous peptide antigen via MHC class II, regulation of lamellipodium assembly, blood coagulation, cytoskeleton organization, endoplasmic reticulum to Golgi vesicle-mediated transport, cell morphogenesis, 3106 3158 3741 1297 2285 1909 1676 2079 1804 ENSG00000077585 chr1 236142505 236221865 + GPR137B protein_coding 7107 GO:0016020, GO:0005887, GO:0005765, GO:0005765, membrane, integral component of plasma membrane, lysosomal membrane, lysosomal membrane, GO:0005515, protein binding, GO:1904263, GO:1904263, GO:0150032, GO:0045779, GO:0045779, GO:0045671, GO:0045671, GO:0043087, GO:0043030, GO:0010506, GO:0010506, GO:0006914, positive regulation of TORC1 signaling, positive regulation of TORC1 signaling, positive regulation of protein localization to lysosome, negative regulation of bone resorption, negative regulation of bone resorption, negative regulation of osteoclast differentiation, negative regulation of osteoclast differentiation, regulation of GTPase activity, regulation of macrophage activation, regulation of autophagy, regulation of autophagy, autophagy, 15 24 39 52 5 59 20 16 19 ENSG00000077616 chr11 90131515 90192894 + NAALAD2 protein_coding This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 10003 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0050129, GO:0046872, GO:0016805, GO:0008239, GO:0008236, GO:0005515, GO:0004181, GO:0004180, GO:0004180, N-formylglutamate deformylase activity, metal ion binding, dipeptidase activity, dipeptidyl-peptidase activity, serine-type peptidase activity, protein binding, metallocarboxypeptidase activity, carboxypeptidase activity, carboxypeptidase activity, GO:0042135, GO:0008652, GO:0006508, neurotransmitter catabolic process, cellular amino acid biosynthetic process, proteolysis, 1 12 16 22 15 24 15 3 0 ENSG00000077684 chr4 128809623 128875224 + JADE1 protein_coding 79960 GO:0036064, GO:0016607, GO:0005886, GO:0005737, GO:0005694, GO:0005654, GO:0005634, GO:0000123, GO:0000123, ciliary basal body, nuclear speck, plasma membrane, cytoplasm, chromosome, nucleoplasm, nucleus, histone acetyltransferase complex, histone acetyltransferase complex, GO:0046872, GO:0005515, GO:0003713, metal ion binding, protein binding, transcription coactivator activity, GO:2000134, GO:1903508, GO:0090090, GO:0043984, GO:0043983, GO:0043982, GO:0043982, GO:0043981, GO:0043981, GO:0043966, GO:0043966, GO:0030308, GO:0006915, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of nucleic acid-templated transcription, negative regulation of canonical Wnt signaling pathway, histone H4-K16 acetylation, histone H4-K12 acetylation, histone H4-K8 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H4-K5 acetylation, histone H3 acetylation, histone H3 acetylation, negative regulation of cell growth, apoptotic process, 971 757 1074 751 962 1066 780 662 808 ENSG00000077713 chrX 119399060 119454478 + SLC25A43 protein_coding This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]. 203427 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0005347, ATP transmembrane transporter activity, GO:0055085, GO:0015867, transmembrane transport, ATP transport, 8 3 11 9 6 14 9 7 16 ENSG00000077721 chrX 119574467 119591083 + UBE2A protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 7319 GO:0033503, GO:0033503, GO:0005829, GO:0005654, GO:0000785, GO:0000785, HULC complex, HULC complex, cytosol, nucleoplasm, chromatin, chromatin, GO:0061631, GO:0061631, GO:0031625, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0070979, GO:0070936, GO:0051865, GO:0043161, GO:0033522, GO:0016574, GO:0016567, GO:0009411, GO:0008284, GO:0006511, GO:0006301, GO:0006281, GO:0006281, GO:0000209, GO:0000209, protein K11-linked ubiquitination, protein K48-linked ubiquitination, protein autoubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, histone H2A ubiquitination, histone ubiquitination, protein ubiquitination, response to UV, positive regulation of cell population proliferation, ubiquitin-dependent protein catabolic process, postreplication repair, DNA repair, DNA repair, protein polyubiquitination, protein polyubiquitination, 877 945 1138 1021 1354 1415 1115 992 1011 ENSG00000077782 chr8 38400215 38468834 - FGFR1 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 2260 GO:0043235, GO:0043235, GO:0031410, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005634, GO:0005576, receptor complex, receptor complex, cytoplasmic vesicle, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, nucleus, extracellular region, GO:0090722, GO:0042803, GO:0042802, GO:0042169, GO:0017134, GO:0017134, GO:0008201, GO:0005524, GO:0005515, GO:0005007, GO:0005007, GO:0005007, GO:0004714, GO:0004713, receptor-receptor interaction, protein homodimerization activity, identical protein binding, SH2 domain binding, fibroblast growth factor binding, fibroblast growth factor binding, heparin binding, ATP binding, protein binding, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2001239, GO:2000830, GO:2000546, GO:1905564, GO:1903465, GO:0090272, GO:0090080, GO:0070640, GO:0060665, GO:0060484, GO:0060445, GO:0060117, GO:0060045, GO:0051897, GO:0051897, GO:0048705, GO:0048469, GO:0048378, GO:0048339, GO:0048015, GO:0046777, GO:0045666, GO:0045597, GO:0045595, GO:0043536, GO:0043410, GO:0043410, GO:0043406, GO:0043009, GO:0042474, GO:0042473, GO:0042472, GO:0035607, GO:0033674, GO:0030901, GO:0030326, GO:0021847, GO:0018108, GO:0016477, GO:0014068, GO:0010976, GO:0010966, GO:0010863, GO:0010518, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0008284, GO:0007605, GO:0007275, GO:0007169, GO:0006468, GO:0002062, GO:0002053, GO:0001837, GO:0001764, GO:0001759, GO:0001701, GO:0001657, GO:0001525, GO:0001501, GO:0000165, GO:0000122, regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of parathyroid hormone secretion, positive regulation of endothelial cell chemotaxis to fibroblast growth factor, positive regulation of vascular endothelial cell proliferation, positive regulation of mitotic cell cycle DNA replication, negative regulation of fibroblast growth factor production, positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway, vitamin D3 metabolic process, regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling, lung-associated mesenchyme development, branching involved in salivary gland morphogenesis, auditory receptor cell development, positive regulation of cardiac muscle cell proliferation, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, skeletal system morphogenesis, cell maturation, regulation of lateral mesodermal cell fate specification, paraxial mesoderm development, phosphatidylinositol-mediated signaling, protein autophosphorylation, positive regulation of neuron differentiation, positive regulation of cell differentiation, regulation of cell differentiation, positive regulation of blood vessel endothelial cell migration, positive regulation of MAPK cascade, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, chordate embryonic development, middle ear morphogenesis, outer ear morphogenesis, inner ear morphogenesis, fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development, positive regulation of kinase activity, midbrain development, embryonic limb morphogenesis, ventricular zone neuroblast division, peptidyl-tyrosine phosphorylation, cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, regulation of phosphate transport, positive regulation of phospholipase C activity, positive regulation of phospholipase activity, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, sensory perception of sound, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, protein phosphorylation, chondrocyte differentiation, positive regulation of mesenchymal cell proliferation, epithelial to mesenchymal transition, neuron migration, organ induction, in utero embryonic development, ureteric bud development, angiogenesis, skeletal system development, MAPK cascade, negative regulation of transcription by RNA polymerase II, 42 30 51 57 44 69 53 46 36 ENSG00000077800 chr7 73328164 73358637 + FKBP6 protein_coding The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 8468 GO:0005829, GO:0005737, GO:0000795, cytosol, cytoplasm, synaptonemal complex, GO:0051879, GO:0042802, GO:0005528, GO:0005515, GO:0003755, Hsp90 protein binding, identical protein binding, FK506 binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, GO:0051321, GO:0045070, GO:0043046, GO:0034587, GO:0031047, GO:0030154, GO:0007283, GO:0006457, GO:0000413, meiotic cell cycle, positive regulation of viral genome replication, DNA methylation involved in gamete generation, piRNA metabolic process, gene silencing by RNA, cell differentiation, spermatogenesis, protein folding, protein peptidyl-prolyl isomerization, 0 0 0 116 83 103 53 63 28 ENSG00000077935 chr22 45344063 45413619 - SMC1B protein_coding SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]. 27127 GO:0034991, GO:0030893, GO:0005829, GO:0005654, GO:0000800, GO:0000775, nuclear meiotic cohesin complex, meiotic cohesin complex, cytosol, nucleoplasm, lateral element, chromosome, centromeric region, GO:0005524, GO:0003677, ATP binding, DNA binding, GO:0051321, GO:0007064, meiotic cell cycle, mitotic sister chromatid cohesion, 1 3 8 4 3 0 6 6 0 ENSG00000077942 chr22 45502238 45601135 + FBLN1 protein_coding Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]. 2192 GO:0071953, GO:0070062, GO:0062023, GO:0062023, GO:0031012, GO:0005615, GO:0005615, GO:0005604, GO:0005576, GO:0005576, GO:0005576, elastic fiber, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular space, extracellular space, basement membrane, extracellular region, extracellular region, extracellular region, GO:0070051, GO:0044877, GO:0042802, GO:0016504, GO:0008022, GO:0005509, GO:0005201, GO:0005201, GO:0001968, fibrinogen binding, protein-containing complex binding, identical protein binding, peptidase activator activity, protein C-terminus binding, calcium ion binding, extracellular matrix structural constituent, extracellular matrix structural constituent, fibronectin binding, GO:2000647, GO:2000146, GO:1900025, GO:0072378, GO:0070373, GO:0030198, GO:0016032, GO:0010952, GO:0007566, GO:0007229, GO:0007162, GO:0001933, negative regulation of stem cell proliferation, negative regulation of cell motility, negative regulation of substrate adhesion-dependent cell spreading, blood coagulation, fibrin clot formation, negative regulation of ERK1 and ERK2 cascade, extracellular matrix organization, viral process, positive regulation of peptidase activity, embryo implantation, integrin-mediated signaling pathway, negative regulation of cell adhesion, negative regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000077943 chr10 15513949 15720125 - ITGA8 protein_coding Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]. 8516 GO:0045177, GO:0043204, GO:0034678, GO:0032591, GO:0014069, GO:0009986, GO:0008305, GO:0005925, GO:0005886, GO:0005783, apical part of cell, perikaryon, integrin alpha8-beta1 complex, dendritic spine membrane, postsynaptic density, cell surface, integrin complex, focal adhesion, plasma membrane, endoplasmic reticulum, GO:0046872, metal ion binding, GO:2000721, GO:0098609, GO:0048745, GO:0048333, GO:0045184, GO:0042472, GO:0034446, GO:0030511, GO:0030198, GO:0030030, GO:0007613, GO:0007420, GO:0007229, GO:0007160, GO:0007160, GO:0001822, GO:0001656, positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation, cell-cell adhesion, smooth muscle tissue development, mesodermal cell differentiation, establishment of protein localization, inner ear morphogenesis, substrate adhesion-dependent cell spreading, positive regulation of transforming growth factor beta receptor signaling pathway, extracellular matrix organization, cell projection organization, memory, brain development, integrin-mediated signaling pathway, cell-matrix adhesion, cell-matrix adhesion, kidney development, metanephros development, 0 0 0 0 0 0 0 0 0 ENSG00000077984 chr20 24949230 24959928 + CST7 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]. 8530 GO:0031410, GO:0005794, GO:0005794, GO:0005783, GO:0005783, GO:0005771, GO:0005770, GO:0005768, GO:0005764, GO:0005764, GO:0005615, GO:0005615, cytoplasmic vesicle, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, multivesicular body, late endosome, endosome, lysosome, lysosome, extracellular space, extracellular space, GO:0042803, GO:0030414, GO:0005515, GO:0004869, GO:0004866, protein homodimerization activity, peptidase inhibitor activity, protein binding, cysteine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:1903979, GO:0097340, GO:0031643, GO:0010466, GO:0006955, negative regulation of microglial cell activation, inhibition of cysteine-type endopeptidase activity, positive regulation of myelination, negative regulation of peptidase activity, immune response, 675 161 475 298 162 488 299 207 396 ENSG00000078018 chr2 209424058 209734118 + MAP2 protein_coding This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]. 4133 GO:1990769, GO:1990635, GO:1902737, GO:0150014, GO:0150002, GO:0150001, GO:0097442, GO:0097441, GO:0044307, GO:0044304, GO:0044294, GO:0043203, GO:0043198, GO:0043194, GO:0043025, GO:0043005, GO:0043005, GO:0034399, GO:0032839, GO:0030425, GO:0014069, GO:0005875, GO:0005874, GO:0005829, GO:0005737, proximal neuron projection, proximal dendrite, dendritic filopodium, apical distal dendrite, distal dendrite, primary dendrite, CA3 pyramidal cell dendrite, basal dendrite, dendritic branch, main axon, dendritic growth cone, axon hillock, dendritic shaft, axon initial segment, neuronal cell body, neuron projection, neuron projection, nuclear periphery, dendrite cytoplasm, dendrite, postsynaptic density, microtubule associated complex, microtubule, cytosol, cytoplasm, GO:0048156, GO:0008017, GO:0008017, GO:0005516, GO:0005515, GO:0005198, GO:0002162, tau protein binding, microtubule binding, microtubule binding, calmodulin binding, protein binding, structural molecule activity, dystroglycan binding, GO:2000575, GO:1904527, GO:1903827, GO:1903744, GO:1902513, GO:1901953, GO:0071310, GO:0048813, GO:0031175, GO:0031175, GO:0031115, GO:0031113, GO:0030517, GO:0030010, GO:0021954, GO:0016358, GO:0007409, GO:0001578, GO:0000226, GO:0000226, negative regulation of microtubule motor activity, negative regulation of microtubule binding, regulation of cellular protein localization, positive regulation of anterograde synaptic vesicle transport, regulation of organelle transport along microtubule, positive regulation of anterograde dense core granule transport, cellular response to organic substance, dendrite morphogenesis, neuron projection development, neuron projection development, negative regulation of microtubule polymerization, regulation of microtubule polymerization, negative regulation of axon extension, establishment of cell polarity, central nervous system neuron development, dendrite development, axonogenesis, microtubule bundle formation, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 0 1 0 2 0 0 0 1 0 ENSG00000078043 chr18 46803224 46920160 - PIAS2 protein_coding This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017]. 9063 GO:0016607, GO:0016605, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear speck, PML body, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0061665, GO:0061665, GO:0031625, GO:0019789, GO:0008270, GO:0008134, GO:0005515, GO:0003712, GO:0003677, GO:0001085, SUMO ligase activity, SUMO ligase activity, ubiquitin protein ligase binding, SUMO transferase activity, zinc ion binding, transcription factor binding, protein binding, transcription coregulator activity, DNA binding, RNA polymerase II transcription factor binding, GO:0060766, GO:0016925, GO:0016925, GO:0016925, GO:0006357, negative regulation of androgen receptor signaling pathway, protein sumoylation, protein sumoylation, protein sumoylation, regulation of transcription by RNA polymerase II, 89 38 104 104 59 155 117 50 93 ENSG00000078053 chr7 38383704 38631567 - AMPH protein_coding This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]. 273 GO:0031256, GO:0030672, GO:0015629, GO:0008021, GO:0005886, GO:0005829, leading edge membrane, synaptic vesicle membrane, actin cytoskeleton, synaptic vesicle, plasma membrane, cytosol, GO:0005543, GO:0005543, GO:0005515, phospholipid binding, phospholipid binding, protein binding, GO:0061024, GO:0048488, GO:0007268, GO:0006897, membrane organization, synaptic vesicle endocytosis, chemical synaptic transmission, endocytosis, 0 3 0 4 15 15 2 10 0 ENSG00000078061 chrX 47561100 47571920 + ARAF protein_coding This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012]. 369 GO:0005829, GO:0005829, GO:0005739, GO:0005575, cytosol, cytosol, mitochondrion, cellular_component, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0043066, GO:0033138, GO:0032434, GO:0032006, GO:0006464, GO:0000165, negative regulation of apoptotic process, positive regulation of peptidyl-serine phosphorylation, regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of TOR signaling, cellular protein modification process, MAPK cascade, 744 728 1019 586 709 746 580 548 556 ENSG00000078070 chr3 183015218 183116075 - MCCC1 protein_coding This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]. 56922 GO:1905202, GO:0005829, GO:0005759, GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0002169, GO:0002169, methylcrotonoyl-CoA carboxylase complex, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, 3-methylcrotonyl-CoA carboxylase complex, mitochondrial, 3-methylcrotonyl-CoA carboxylase complex, mitochondrial, GO:0046872, GO:0016421, GO:0009374, GO:0005524, GO:0005515, GO:0004485, GO:0004485, GO:0004075, metal ion binding, CoA carboxylase activity, biotin binding, ATP binding, protein binding, methylcrotonoyl-CoA carboxylase activity, methylcrotonoyl-CoA carboxylase activity, biotin carboxylase activity, GO:0009083, GO:0006768, GO:0006768, GO:0006552, GO:0006552, GO:0006552, branched-chain amino acid catabolic process, biotin metabolic process, biotin metabolic process, leucine catabolic process, leucine catabolic process, leucine catabolic process, 13 32 22 45 21 73 67 19 39 ENSG00000078081 chr3 183122213 183163839 - LAMP3 protein_coding Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]. 27074 GO:0097233, GO:0048471, GO:0043231, GO:0031982, GO:0031902, GO:0016021, GO:0005886, GO:0005886, GO:0005769, GO:0005765, alveolar lamellar body membrane, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, vesicle, late endosome membrane, integral component of membrane, plasma membrane, plasma membrane, early endosome, lysosomal membrane, GO:1903900, GO:1901799, GO:0072594, GO:0046718, GO:0043154, GO:0035455, GO:0010628, GO:0010506, GO:0002250, regulation of viral life cycle, negative regulation of proteasomal protein catabolic process, establishment of protein localization to organelle, viral entry into host cell, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, response to interferon-alpha, positive regulation of gene expression, regulation of autophagy, adaptive immune response, 15 9 32 9 3 14 12 9 14 ENSG00000078098 chr2 162170684 162245151 - FAP protein_coding The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. 2191 GO:1905368, GO:0071438, GO:0045178, GO:0045177, GO:0032587, GO:0031258, GO:0030027, GO:0016021, GO:0009986, GO:0005925, GO:0005886, GO:0005886, GO:0005737, GO:0005615, peptidase complex, invadopodium membrane, basal part of cell, apical part of cell, ruffle membrane, lamellipodium membrane, lamellipodium, integral component of membrane, cell surface, focal adhesion, plasma membrane, plasma membrane, cytoplasm, extracellular space, GO:0042803, GO:0042802, GO:0008239, GO:0008239, GO:0008236, GO:0008236, GO:0008236, GO:0008233, GO:0005515, GO:0005178, GO:0004252, GO:0004175, GO:0002020, protein homodimerization activity, identical protein binding, dipeptidyl-peptidase activity, dipeptidyl-peptidase activity, serine-type peptidase activity, serine-type peptidase activity, serine-type peptidase activity, peptidase activity, protein binding, integrin binding, serine-type endopeptidase activity, endopeptidase activity, protease binding, GO:1903054, GO:1902362, GO:1900119, GO:0097325, GO:0071850, GO:0071158, GO:0060244, GO:0051917, GO:0051603, GO:0043542, GO:0010716, GO:0010710, GO:0007155, GO:0006508, GO:0006508, GO:0001525, negative regulation of extracellular matrix organization, melanocyte apoptotic process, positive regulation of execution phase of apoptosis, melanocyte proliferation, mitotic cell cycle arrest, positive regulation of cell cycle arrest, negative regulation of cell proliferation involved in contact inhibition, regulation of fibrinolysis, proteolysis involved in cellular protein catabolic process, endothelial cell migration, negative regulation of extracellular matrix disassembly, regulation of collagen catabolic process, cell adhesion, proteolysis, proteolysis, angiogenesis, 5 3 1 0 2 8 1 0 0 ENSG00000078114 chr10 20779973 21174187 - NEBL protein_coding This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 10529 GO:0070062, GO:0031674, GO:0030018, GO:0030018, GO:0001725, extracellular exosome, I band, Z disc, Z disc, stress fiber, GO:0051015, GO:0051015, GO:0031005, GO:0008307, GO:0008092, GO:0008092, GO:0005523, GO:0005515, actin filament binding, actin filament binding, filamin binding, structural constituent of muscle, cytoskeletal protein binding, cytoskeletal protein binding, tropomyosin binding, protein binding, GO:0071691, GO:0071691, GO:0048747, cardiac muscle thin filament assembly, cardiac muscle thin filament assembly, muscle fiber development, 2 3 9 7 5 15 2 8 10 ENSG00000078124 chr11 76860867 77026797 + ACER3 protein_coding 55331 GO:0030176, GO:0030176, GO:0030173, GO:0016021, GO:0005789, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, integral component of membrane, endoplasmic reticulum membrane, GO:0102121, GO:0071633, GO:0071633, GO:0070774, GO:0070774, GO:0070774, GO:0070774, GO:0017040, GO:0017040, GO:0008270, GO:0005509, ceramidase activity, dihydroceramidase activity, dihydroceramidase activity, phytoceramidase activity, phytoceramidase activity, phytoceramidase activity, phytoceramidase activity, N-acylsphingosine amidohydrolase activity, N-acylsphingosine amidohydrolase activity, zinc ion binding, calcium ion binding, GO:0071602, GO:0071602, GO:0046514, GO:0046514, GO:0046512, GO:0046512, GO:0043067, GO:0042552, GO:0030148, GO:0008284, GO:0006954, phytosphingosine biosynthetic process, phytosphingosine biosynthetic process, ceramide catabolic process, ceramide catabolic process, sphingosine biosynthetic process, sphingosine biosynthetic process, regulation of programmed cell death, myelination, sphingolipid biosynthetic process, positive regulation of cell population proliferation, inflammatory response, 68 110 105 59 113 98 74 61 73 ENSG00000078140 chr4 39698044 39782792 + UBE2K protein_coding The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 3093 GO:0032433, GO:0005829, GO:0005634, filopodium tip, cytosol, nucleus, GO:0061631, GO:0034450, GO:0031625, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin-ubiquitin ligase activity, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:1903265, GO:0070936, GO:0070059, GO:0060340, GO:0043161, GO:0035458, GO:0032434, GO:0016567, GO:0010994, GO:0010800, GO:0006511, GO:0000209, positive regulation of tumor necrosis factor-mediated signaling pathway, protein K48-linked ubiquitination, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, positive regulation of type I interferon-mediated signaling pathway, proteasome-mediated ubiquitin-dependent protein catabolic process, cellular response to interferon-beta, regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, free ubiquitin chain polymerization, positive regulation of peptidyl-threonine phosphorylation, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 271 278 333 224 258 289 184 204 163 ENSG00000078142 chr18 41955206 42087830 + PIK3C3 protein_coding 5289 GO:0044754, GO:0035032, GO:0034272, GO:0034271, GO:0030670, GO:0030496, GO:0016020, GO:0016020, GO:0005930, GO:0005829, GO:0005777, GO:0005770, GO:0005768, GO:0005737, GO:0000407, autolysosome, phosphatidylinositol 3-kinase complex, class III, phosphatidylinositol 3-kinase complex, class III, type II, phosphatidylinositol 3-kinase complex, class III, type I, phagocytic vesicle membrane, midbody, membrane, membrane, axoneme, cytosol, peroxisome, late endosome, endosome, cytoplasm, phagophore assembly site, GO:0052742, GO:0016303, GO:0016303, GO:0016303, GO:0016301, GO:0005524, GO:0005515, GO:0004672, phosphatidylinositol kinase activity, 1-phosphatidylinositol-3-kinase activity, 1-phosphatidylinositol-3-kinase activity, 1-phosphatidylinositol-3-kinase activity, kinase activity, ATP binding, protein binding, protein kinase activity, GO:0051301, GO:0050708, GO:0048015, GO:0046854, GO:0045022, GO:0043201, GO:0042149, GO:0036092, GO:0034497, GO:0034162, GO:0032465, GO:0030242, GO:0016485, GO:0016236, GO:0016236, GO:0007049, GO:0007032, GO:0006914, GO:0006897, GO:0006661, GO:0006497, GO:0006468, GO:0000045, cell division, regulation of protein secretion, phosphatidylinositol-mediated signaling, phosphatidylinositol phosphorylation, early endosome to late endosome transport, response to leucine, cellular response to glucose starvation, phosphatidylinositol-3-phosphate biosynthetic process, protein localization to phagophore assembly site, toll-like receptor 9 signaling pathway, regulation of cytokinesis, autophagy of peroxisome, protein processing, macroautophagy, macroautophagy, cell cycle, endosome organization, autophagy, endocytosis, phosphatidylinositol biosynthetic process, protein lipidation, protein phosphorylation, autophagosome assembly, 450 543 702 281 501 551 365 366 434 ENSG00000078177 chr4 40056826 40158252 + N4BP2 protein_coding This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 55728 GO:0005829, cytosol, GO:0046404, GO:0005524, GO:0005515, GO:0004519, ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity, ATP binding, protein binding, endonuclease activity, GO:0090305, GO:0016310, nucleic acid phosphodiester bond hydrolysis, phosphorylation, 46 31 91 146 63 202 139 52 124 ENSG00000078237 chr12 4307763 4354593 + TIGAR protein_coding This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]. 57103 GO:0005829, GO:0005829, GO:0005829, GO:0005741, GO:0005737, GO:0005634, cytosol, cytosol, cytosol, mitochondrial outer membrane, cytoplasm, nucleus, GO:0005515, GO:0004331, GO:0004331, GO:0004331, GO:0004083, GO:0004083, protein binding, fructose-2,6-bisphosphate 2-phosphatase activity, fructose-2,6-bisphosphate 2-phosphatase activity, fructose-2,6-bisphosphate 2-phosphatase activity, bisphosphoglycerate 2-phosphatase activity, bisphosphoglycerate 2-phosphatase activity, GO:2000378, GO:1904024, GO:1903301, GO:1902153, GO:1901525, GO:1901215, GO:0071456, GO:0071279, GO:0060576, GO:0045820, GO:0045739, GO:0045739, GO:0043456, GO:0043456, GO:0043069, GO:0043069, GO:0030388, GO:0030388, GO:0016311, GO:0010666, GO:0010332, GO:0009410, GO:0006974, GO:0006915, GO:0006914, GO:0006003, GO:0006003, GO:0002931, negative regulation of reactive oxygen species metabolic process, negative regulation of glucose catabolic process to lactate via pyruvate, positive regulation of hexokinase activity, regulation of response to DNA damage checkpoint signaling, negative regulation of mitophagy, negative regulation of neuron death, cellular response to hypoxia, cellular response to cobalt ion, intestinal epithelial cell development, negative regulation of glycolytic process, positive regulation of DNA repair, positive regulation of DNA repair, regulation of pentose-phosphate shunt, regulation of pentose-phosphate shunt, negative regulation of programmed cell death, negative regulation of programmed cell death, fructose 1,6-bisphosphate metabolic process, fructose 1,6-bisphosphate metabolic process, dephosphorylation, positive regulation of cardiac muscle cell apoptotic process, response to gamma radiation, response to xenobiotic stimulus, cellular response to DNA damage stimulus, apoptotic process, autophagy, fructose 2,6-bisphosphate metabolic process, fructose 2,6-bisphosphate metabolic process, response to ischemia, 10 2 9 5 6 0 12 7 7 ENSG00000078246 chr12 2877223 2941140 + TULP3 protein_coding This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]. 7289 GO:0097731, GO:0097546, GO:0005930, GO:0005929, GO:0005929, GO:0005929, GO:0005886, GO:0005886, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005576, 9+0 non-motile cilium, ciliary base, axoneme, cilium, cilium, cilium, plasma membrane, plasma membrane, nucleolus, nucleoplasm, nucleus, nucleus, extracellular region, GO:0120160, GO:0044877, GO:0035091, GO:0019899, GO:0005546, GO:0005515, GO:0001664, intraciliary transport particle A binding, protein-containing complex binding, phosphatidylinositol binding, enzyme binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, G protein-coupled receptor binding, GO:1901621, GO:0061548, GO:0061512, GO:0061512, GO:0061512, GO:0061512, GO:0060831, GO:0060434, GO:0060348, GO:0048702, GO:0045879, GO:0042733, GO:0031076, GO:0021953, GO:0021914, GO:0009952, GO:0008277, GO:0008277, GO:0007420, GO:0007186, GO:0006355, GO:0001843, negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, ganglion development, protein localization to cilium, protein localization to cilium, protein localization to cilium, protein localization to cilium, smoothened signaling pathway involved in dorsal/ventral neural tube patterning, bronchus morphogenesis, bone development, embryonic neurocranium morphogenesis, negative regulation of smoothened signaling pathway, embryonic digit morphogenesis, embryonic camera-type eye development, central nervous system neuron differentiation, negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning, anterior/posterior pattern specification, regulation of G protein-coupled receptor signaling pathway, regulation of G protein-coupled receptor signaling pathway, brain development, G protein-coupled receptor signaling pathway, regulation of transcription, DNA-templated, neural tube closure, 8 11 13 17 5 17 7 22 6 ENSG00000078269 chr6 157981887 158099176 + SYNJ2 protein_coding The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 8871 GO:0098793, GO:0048471, GO:0045121, GO:0042995, GO:0005886, GO:0005856, GO:0005829, presynapse, perinuclear region of cytoplasm, membrane raft, cell projection, plasma membrane, cytoskeleton, cytosol, GO:0030165, GO:0017124, GO:0005515, GO:0004439, GO:0004439, GO:0003723, PDZ domain binding, SH3 domain binding, protein binding, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, RNA binding, GO:0061024, GO:0048488, GO:0046856, GO:0046855, GO:0007420, GO:0006661, membrane organization, synaptic vesicle endocytosis, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, brain development, phosphatidylinositol biosynthetic process, 62 50 115 76 26 113 33 35 62 ENSG00000078295 chr5 7396208 7830081 + ADCY2 protein_coding This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]. 108 GO:0045121, GO:0030425, GO:0016020, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005737, membrane raft, dendrite, membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0030145, GO:0008179, GO:0005524, GO:0004016, GO:0004016, GO:0004016, GO:0000287, manganese ion binding, adenylate cyclase binding, ATP binding, adenylate cyclase activity, adenylate cyclase activity, adenylate cyclase activity, magnesium ion binding, GO:1904322, GO:0071377, GO:0034199, GO:0019933, GO:0007193, GO:0007190, GO:0007189, GO:0007189, GO:0007189, GO:0007188, GO:0007186, GO:0006171, GO:0003091, cellular response to forskolin, cellular response to glucagon stimulus, activation of protein kinase A activity, cAMP-mediated signaling, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cAMP biosynthetic process, renal water homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000078304 chr14 101761798 101927989 + PPP2R5C protein_coding The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 5527 GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000775, GO:0000159, GO:0000159, GO:0000159, cytosol, cytosol, cytosol, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, centromeric region, protein phosphatase type 2A complex, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0072542, GO:0019888, GO:0005515, protein phosphatase activator activity, protein phosphatase regulator activity, protein binding, GO:0051898, GO:0043666, GO:0043161, GO:0031952, GO:0014066, GO:0008285, GO:0007165, GO:0006470, negative regulation of protein kinase B signaling, regulation of phosphoprotein phosphatase activity, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of protein autophosphorylation, regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cell population proliferation, signal transduction, protein dephosphorylation, 1800 1908 2414 1010 1464 1637 1275 1336 1224 ENSG00000078319 chr7 100320992 100341908 - PMS2P1 unprocessed_pseudogene 37 49 64 65 48 75 29 21 33 ENSG00000078328 chr16 5239802 7713338 + RBFOX1 protein_coding The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 54715 GO:0097165, GO:0010494, GO:0005802, GO:0005737, GO:0005737, GO:0005634, nuclear stress granule, cytoplasmic stress granule, trans-Golgi network, cytoplasm, cytoplasm, nucleus, GO:0008022, GO:0005515, GO:0003729, GO:0003723, protein C-terminus binding, protein binding, mRNA binding, RNA binding, GO:0050658, GO:0008380, GO:0007399, GO:0006397, GO:0000381, RNA transport, RNA splicing, nervous system development, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, 2 1 0 0 0 0 0 1 3 ENSG00000078369 chr1 1785285 1891117 - GNB1 protein_coding Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 2782 GO:1903561, GO:0097381, GO:0070062, GO:0045202, GO:0044297, GO:0042622, GO:0030425, GO:0016020, GO:0005886, GO:0005834, GO:0005834, GO:0005829, GO:0005765, GO:0005737, GO:0001917, extracellular vesicle, photoreceptor disc membrane, extracellular exosome, synapse, cell body, photoreceptor outer segment membrane, dendrite, membrane, plasma membrane, heterotrimeric G-protein complex, heterotrimeric G-protein complex, cytosol, lysosomal membrane, cytoplasm, photoreceptor inner segment, GO:0051020, GO:0047391, GO:0044877, GO:0031682, GO:0030507, GO:0005515, GO:0003924, GTPase binding, alkylglycerophosphoethanolamine phosphodiesterase activity, protein-containing complex binding, G-protein gamma-subunit binding, spectrin binding, protein binding, GTPase activity, GO:0071870, GO:0071456, GO:0071380, GO:0060041, GO:0050909, GO:0030168, GO:0016056, GO:0010659, GO:0008283, GO:0007265, GO:0007223, GO:0007213, GO:0007204, GO:0007200, GO:0007191, GO:0007186, GO:0007186, GO:0007165, GO:0006457, cellular response to catecholamine stimulus, cellular response to hypoxia, cellular response to prostaglandin E stimulus, retina development in camera-type eye, sensory perception of taste, platelet activation, rhodopsin mediated signaling pathway, cardiac muscle cell apoptotic process, cell population proliferation, Ras protein signal transduction, Wnt signaling pathway, calcium modulating pathway, G protein-coupled acetylcholine receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating dopamine receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, protein folding, 4295 3905 5605 1413 2463 2161 1798 2239 1829 ENSG00000078399 chr7 27162435 27175180 - HOXA9 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. Read-through transcription exists between this gene and the upstream homeobox A10 (HOXA10) gene.[provided by RefSeq, Mar 2011]. 3205 GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0019899, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, enzyme binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060216, GO:0060065, GO:0048704, GO:0045638, GO:0042118, GO:0035115, GO:0030879, GO:0009954, GO:0009952, GO:0008584, GO:0007338, GO:0007283, GO:0007275, GO:0006357, GO:0006351, definitive hemopoiesis, uterus development, embryonic skeletal system morphogenesis, negative regulation of myeloid cell differentiation, endothelial cell activation, embryonic forelimb morphogenesis, mammary gland development, proximal/distal pattern formation, anterior/posterior pattern specification, male gonad development, single fertilization, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, transcription, DNA-templated, 1 0 1 0 0 0 0 0 0 ENSG00000078401 chr6 12290363 12297194 + EDN1 protein_coding This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 1906 GO:0048237, GO:0045178, GO:0033093, GO:0030133, GO:0005737, GO:0005615, GO:0005615, GO:0005576, rough endoplasmic reticulum lumen, basal part of cell, Weibel-Palade body, transport vesicle, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0031708, GO:0031708, GO:0031708, GO:0031707, GO:0031707, GO:0005515, GO:0005179, GO:0005179, GO:0005125, endothelin B receptor binding, endothelin B receptor binding, endothelin B receptor binding, endothelin A receptor binding, endothelin A receptor binding, protein binding, hormone activity, hormone activity, cytokine activity, GO:1904707, GO:1902074, GO:1901224, GO:0090023, GO:0086100, GO:0071560, GO:0071548, GO:0071456, GO:0071398, GO:0071389, GO:0071385, GO:0071375, GO:0071356, GO:0071347, GO:0071346, GO:0071277, GO:0070101, GO:0061051, GO:0061051, GO:0060585, GO:0060585, GO:0060298, GO:0060137, GO:0051930, GO:0051899, GO:0051771, GO:0051482, GO:0051216, GO:0051091, GO:0048661, GO:0048016, GO:0046888, GO:0046887, GO:0045987, GO:0045944, GO:0045840, GO:0045793, GO:0045429, GO:0045321, GO:0044321, GO:0043507, GO:0043406, GO:0043200, GO:0043179, GO:0042554, GO:0042482, GO:0042474, GO:0042313, GO:0042310, GO:0042045, GO:0035994, GO:0035815, GO:0035810, GO:0035690, GO:0035094, GO:0034696, GO:0034392, GO:0033574, GO:0032496, GO:0032308, GO:0032269, GO:0031583, GO:0030593, GO:0030335, GO:0030195, GO:0030185, GO:0030072, GO:0019722, GO:0019233, GO:0019229, GO:0014826, GO:0014826, GO:0014824, GO:0014824, GO:0014823, GO:0014065, GO:0014032, GO:0010827, GO:0010613, GO:0010595, GO:0010460, GO:0010259, GO:0010193, GO:0009953, GO:0008284, GO:0007589, GO:0007585, GO:0007507, GO:0007267, GO:0007205, GO:0007204, GO:0007193, GO:0007186, GO:0007186, GO:0007166, GO:0006885, GO:0006874, GO:0003100, GO:0003100, GO:0001821, GO:0001701, GO:0001569, GO:0001516, GO:0000122, positive regulation of vascular associated smooth muscle cell proliferation, response to salt, positive regulation of NIK/NF-kappaB signaling, positive regulation of neutrophil chemotaxis, endothelin receptor signaling pathway, cellular response to transforming growth factor beta stimulus, response to dexamethasone, cellular response to hypoxia, cellular response to fatty acid, cellular response to mineralocorticoid stimulus, cellular response to glucocorticoid stimulus, cellular response to peptide hormone stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, cellular response to calcium ion, positive regulation of chemokine-mediated signaling pathway, positive regulation of cell growth involved in cardiac muscle cell development, positive regulation of cell growth involved in cardiac muscle cell development, positive regulation of prostaglandin-endoperoxide synthase activity, positive regulation of prostaglandin-endoperoxide synthase activity, positive regulation of sarcomere organization, maternal process involved in parturition, regulation of sensory perception of pain, membrane depolarization, negative regulation of nitric-oxide synthase biosynthetic process, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, cartilage development, positive regulation of DNA-binding transcription factor activity, positive regulation of smooth muscle cell proliferation, inositol phosphate-mediated signaling, negative regulation of hormone secretion, positive regulation of hormone secretion, positive regulation of smooth muscle contraction, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic nuclear division, positive regulation of cell size, positive regulation of nitric oxide biosynthetic process, leukocyte activation, response to leptin, positive regulation of JUN kinase activity, positive regulation of MAP kinase activity, response to amino acid, rhythmic excitation, superoxide anion generation, positive regulation of odontogenesis, middle ear morphogenesis, protein kinase C deactivation, vasoconstriction, epithelial fluid transport, response to muscle stretch, positive regulation of renal sodium excretion, positive regulation of urine volume, cellular response to drug, response to nicotine, response to prostaglandin F, negative regulation of smooth muscle cell apoptotic process, response to testosterone, response to lipopolysaccharide, positive regulation of prostaglandin secretion, negative regulation of cellular protein metabolic process, phospholipase D-activating G protein-coupled receptor signaling pathway, neutrophil chemotaxis, positive regulation of cell migration, negative regulation of blood coagulation, nitric oxide transport, peptide hormone secretion, calcium-mediated signaling, sensory perception of pain, regulation of vasoconstriction, vein smooth muscle contraction, vein smooth muscle contraction, artery smooth muscle contraction, artery smooth muscle contraction, response to activity, phosphatidylinositol 3-kinase signaling, neural crest cell development, regulation of glucose transmembrane transport, positive regulation of cardiac muscle hypertrophy, positive regulation of endothelial cell migration, positive regulation of heart rate, multicellular organism aging, response to ozone, dorsal/ventral pattern formation, positive regulation of cell population proliferation, body fluid secretion, respiratory gaseous exchange by respiratory system, heart development, cell-cell signaling, protein kinase C-activating G protein-coupled receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, regulation of pH, cellular calcium ion homeostasis, regulation of systemic arterial blood pressure by endothelin, regulation of systemic arterial blood pressure by endothelin, histamine secretion, in utero embryonic development, branching involved in blood vessel morphogenesis, prostaglandin biosynthetic process, negative regulation of transcription by RNA polymerase II, 26 35 85 286 136 224 491 188 242 ENSG00000078403 chr10 21524675 21743630 + MLLT10 protein_coding This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]. 8028 GO:0032991, GO:0005829, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, cytosol, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0042393, GO:0042393, GO:0031491, GO:0031491, GO:0005515, GO:0003682, GO:0003677, metal ion binding, histone binding, histone binding, nucleosome binding, nucleosome binding, protein binding, chromatin binding, DNA binding, GO:0045944, GO:0045944, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, 195 169 226 149 169 287 194 114 175 ENSG00000078487 chr7 100400826 100428992 - ZCWPW1 protein_coding 55063 GO:0005634, nucleus, GO:0035064, GO:0035064, GO:0035064, GO:0008327, GO:0008270, methylated histone binding, methylated histone binding, methylated histone binding, methyl-CpG binding, zinc ion binding, GO:2000781, GO:0045911, GO:0007283, GO:0007129, GO:0007127, positive regulation of double-strand break repair, positive regulation of DNA recombination, spermatogenesis, homologous chromosome pairing at meiosis, meiosis I, 409 504 541 393 576 606 448 423 542 ENSG00000078549 chr7 31052461 31111479 + ADCYAP1R1 protein_coding This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010]. 117 GO:0043235, GO:0043231, GO:0043005, GO:0009986, GO:0005923, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005791, GO:0005768, receptor complex, intracellular membrane-bounded organelle, neuron projection, cell surface, bicellular tight junction, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, rough endoplasmic reticulum, endosome, GO:0042923, GO:0038023, GO:0031267, GO:0017046, GO:0008528, GO:0008179, GO:0005515, GO:0004999, neuropeptide binding, signaling receptor activity, small GTPase binding, peptide hormone binding, G protein-coupled peptide receptor activity, adenylate cyclase binding, protein binding, vasoactive intestinal polypeptide receptor activity, GO:0060732, GO:0060548, GO:0051057, GO:0046545, GO:0045471, GO:0043950, GO:0042493, GO:0033555, GO:0032355, GO:0030154, GO:0019933, GO:0010524, GO:0007283, GO:0007202, GO:0007188, GO:0007186, GO:0007166, positive regulation of inositol phosphate biosynthetic process, negative regulation of cell death, positive regulation of small GTPase mediated signal transduction, development of primary female sexual characteristics, response to ethanol, positive regulation of cAMP-mediated signaling, response to drug, multicellular organismal response to stress, response to estradiol, cell differentiation, cAMP-mediated signaling, positive regulation of calcium ion transport into cytosol, spermatogenesis, activation of phospholipase C activity, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000078579 chr8 16992169 17002181 - FGF20 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]. 26281 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0090722, GO:0043395, GO:0008083, GO:0008083, GO:0005104, GO:0005102, receptor-receptor interaction, heparan sulfate proteoglycan binding, growth factor activity, growth factor activity, fibroblast growth factor receptor binding, signaling receptor binding, GO:1904340, GO:0070374, GO:0060113, GO:0060043, GO:0051897, GO:0043524, GO:0030334, GO:0030154, GO:0014059, GO:0010628, GO:0009887, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0007267, GO:0007165, GO:0001934, GO:0000165, positive regulation of dopaminergic neuron differentiation, positive regulation of ERK1 and ERK2 cascade, inner ear receptor cell differentiation, regulation of cardiac muscle cell proliferation, positive regulation of protein kinase B signaling, negative regulation of neuron apoptotic process, regulation of cell migration, cell differentiation, regulation of dopamine secretion, positive regulation of gene expression, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, positive regulation of protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000078589 chrX 78945332 78961954 + P2RY10 protein_coding The protein encoded by this gene belongs to the family of G-protein coupled receptors that are preferentially activated by adenosine and uridine nucleotides. There is a pseudogene for this gene nearby on chromosome X. Multiple alternatively spliced transcripts have been observed. [provided by RefSeq, Apr 2016]. 27334 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0045028, GO:0004930, G protein-coupled purinergic nucleotide receptor activity, G protein-coupled receptor activity, GO:0051482, GO:0035589, GO:0035025, GO:0007186, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, G protein-coupled purinergic nucleotide receptor signaling pathway, positive regulation of Rho protein signal transduction, G protein-coupled receptor signaling pathway, 235 210 420 118 101 155 159 85 170 ENSG00000078596 chrX 79360384 79367667 - ITM2A protein_coding This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 9452 GO:0016021, GO:0005886, GO:0005794, integral component of membrane, plasma membrane, Golgi apparatus, GO:0005515, GO:0001540, protein binding, amyloid-beta binding, GO:0042985, GO:0002377, GO:0002317, negative regulation of amyloid precursor protein biosynthetic process, immunoglobulin production, plasma cell differentiation, 99 80 171 227 76 213 191 77 85 ENSG00000078618 chr1 51789191 51878937 - NRDC protein_coding This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 4898 GO:0009986, GO:0005829, GO:0005739, cell surface, cytosol, mitochondrion, GO:0048408, GO:0046872, GO:0005515, GO:0004222, epidermal growth factor binding, metal ion binding, protein binding, metalloendopeptidase activity, GO:0120163, GO:0052548, GO:0051044, GO:0006508, negative regulation of cold-induced thermogenesis, regulation of endopeptidase activity, positive regulation of membrane protein ectodomain proteolysis, proteolysis, 4815 4221 5443 3229 4345 4010 3455 3241 3277 ENSG00000078668 chr8 42391624 42405897 + VDAC3 protein_coding This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 7419 GO:0070062, GO:0046930, GO:0045202, GO:0016020, GO:0005741, GO:0005739, GO:0005739, GO:0005634, extracellular exosome, pore complex, synapse, membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, nucleus, GO:0015288, GO:0008308, GO:0008308, GO:0000166, porin activity, voltage-gated anion channel activity, voltage-gated anion channel activity, nucleotide binding, GO:1902017, GO:0098656, GO:0015853, GO:0015698, GO:0007612, GO:0007270, GO:0001662, regulation of cilium assembly, anion transmembrane transport, adenine transport, inorganic anion transport, learning, neuron-neuron synaptic transmission, behavioral fear response, 247 154 266 175 214 231 142 178 138 ENSG00000078674 chr8 17922840 18029944 + PCM1 protein_coding The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5108 GO:0097730, GO:0045177, GO:0036064, GO:0035869, GO:0034451, GO:0034451, GO:0032991, GO:0031965, GO:0016020, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005813, GO:0005737, GO:0000242, non-motile cilium, apical part of cell, ciliary basal body, ciliary transition zone, centriolar satellite, centriolar satellite, protein-containing complex, nuclear membrane, membrane, cytosol, cytosol, centriole, centrosome, centrosome, centrosome, cytoplasm, pericentriolar material, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1905515, GO:0097711, GO:0097150, GO:0090316, GO:0071539, GO:0071539, GO:0071539, GO:0060271, GO:0050768, GO:0035735, GO:0035735, GO:0035176, GO:0034454, GO:0034453, GO:0031122, GO:0022027, GO:0010389, GO:0007098, GO:0007098, GO:0001764, GO:0000086, non-motile cilium assembly, ciliary basal body-plasma membrane docking, neuronal stem cell population maintenance, positive regulation of intracellular protein transport, protein localization to centrosome, protein localization to centrosome, protein localization to centrosome, cilium assembly, negative regulation of neurogenesis, intraciliary transport involved in cilium assembly, intraciliary transport involved in cilium assembly, social behavior, microtubule anchoring at centrosome, microtubule anchoring, cytoplasmic microtubule organization, interkinetic nuclear migration, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, centrosome cycle, neuron migration, G2/M transition of mitotic cell cycle, 773 844 1176 674 586 778 550 496 773 ENSG00000078687 chr17 77959240 78108835 + TNRC6C protein_coding 57690 GO:0005829, GO:0005654, GO:0000932, cytosol, nucleoplasm, P-body, GO:0005515, GO:0003723, protein binding, RNA binding, GO:1900153, GO:0060213, GO:0060213, GO:0045652, GO:0035278, GO:0035195, GO:0035195, GO:0035194, GO:0010629, GO:0010628, GO:0007223, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, regulation of megakaryocyte differentiation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, post-transcriptional gene silencing by RNA, negative regulation of gene expression, positive regulation of gene expression, Wnt signaling pathway, calcium modulating pathway, 284 299 413 222 191 293 195 179 269 ENSG00000078699 chr20 33490075 33650036 + CBFA2T2 protein_coding In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]. 9139 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003714, GO:0003714, GO:0003714, metal ion binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, GO:0060575, GO:0045892, GO:0045892, GO:0045746, GO:0010977, GO:0010976, GO:0006351, GO:0000122, intestinal epithelial cell differentiation, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of Notch signaling pathway, negative regulation of neuron projection development, positive regulation of neuron projection development, transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 192 232 231 241 307 220 272 207 191 ENSG00000078725 chr9 119153458 119369467 - BRINP1 protein_coding This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]. 1620 GO:0043025, GO:0030425, GO:0005783, GO:0005737, neuronal cell body, dendrite, endoplasmic reticulum, cytoplasm, GO:0005515, protein binding, GO:0071625, GO:0071300, GO:0050768, GO:0045930, GO:0045786, GO:0045666, GO:0042711, GO:0035640, GO:0035176, GO:0008219, GO:0007614, GO:0007050, GO:0001662, vocalization behavior, cellular response to retinoic acid, negative regulation of neurogenesis, negative regulation of mitotic cell cycle, negative regulation of cell cycle, positive regulation of neuron differentiation, maternal behavior, exploration behavior, social behavior, cell death, short-term memory, cell cycle arrest, behavioral fear response, 0 0 0 0 0 0 0 0 0 ENSG00000078747 chr20 34363235 34511393 + ITCH protein_coding This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. 83737 GO:0070062, GO:0043231, GO:0032991, GO:0031901, GO:0031410, GO:0016020, GO:0005938, GO:0005886, GO:0005829, GO:0005769, GO:0005737, GO:0005654, extracellular exosome, intracellular membrane-bounded organelle, protein-containing complex, early endosome membrane, cytoplasmic vesicle, membrane, cell cortex, plasma membrane, cytosol, early endosome, cytoplasm, nucleoplasm, GO:1990763, GO:0061630, GO:0061630, GO:0061630, GO:0061630, GO:0045236, GO:0044389, GO:0043021, GO:0016874, GO:0005515, GO:0004842, GO:0004842, GO:0004842, arrestin family protein binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, CXCR chemokine receptor binding, ubiquitin-like protein ligase binding, ribonucleoprotein complex binding, ligase activity, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2000646, GO:1902036, GO:0090085, GO:0070936, GO:0070936, GO:0070534, GO:0070534, GO:0070423, GO:0051865, GO:0051607, GO:0050687, GO:0046718, GO:0046642, GO:0046329, GO:0045732, GO:0045087, GO:0043161, GO:0043161, GO:0043066, GO:0035519, GO:0035519, GO:0032480, GO:0032088, GO:0016567, GO:0016567, GO:0016567, GO:0007219, GO:0006954, GO:0006915, GO:0006511, GO:0006511, GO:0006511, GO:0002669, GO:0001558, GO:0000209, positive regulation of receptor catabolic process, regulation of hematopoietic stem cell differentiation, regulation of protein deubiquitination, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein K63-linked ubiquitination, protein K63-linked ubiquitination, nucleotide-binding oligomerization domain containing signaling pathway, protein autoubiquitination, defense response to virus, negative regulation of defense response to virus, viral entry into host cell, negative regulation of alpha-beta T cell proliferation, negative regulation of JNK cascade, positive regulation of protein catabolic process, innate immune response, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, protein K29-linked ubiquitination, protein K29-linked ubiquitination, negative regulation of type I interferon production, negative regulation of NF-kappaB transcription factor activity, protein ubiquitination, protein ubiquitination, protein ubiquitination, Notch signaling pathway, inflammatory response, apoptotic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, positive regulation of T cell anergy, regulation of cell growth, protein polyubiquitination, 2105 2097 2540 1044 1505 1387 1212 1282 1233 ENSG00000078795 chr5 137887968 137942747 + PKD2L2 protein_coding 27039 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0005509, GO:0005262, calcium ion binding, calcium channel activity, GO:0070588, GO:0050982, GO:0008150, calcium ion transmembrane transport, detection of mechanical stimulus, biological_process, 115 108 179 124 156 204 125 88 140 ENSG00000078804 chr20 34704290 34713439 + TP53INP2 protein_coding The protein encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016]. 58476 GO:0031410, GO:0016605, GO:0005829, GO:0005776, GO:0005776, GO:0005634, GO:0005634, cytoplasmic vesicle, PML body, cytosol, autophagosome, autophagosome, nucleus, nucleus, GO:0043130, GO:0005515, ubiquitin binding, protein binding, GO:1903828, GO:0045893, GO:0045893, GO:0010508, GO:0006511, GO:0001894, GO:0001649, GO:0000045, GO:0000045, negative regulation of cellular protein localization, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of autophagy, ubiquitin-dependent protein catabolic process, tissue homeostasis, osteoblast differentiation, autophagosome assembly, autophagosome assembly, 4071 4678 3923 15081 22403 14587 12684 10488 8256 ENSG00000078808 chr1 1216908 1232031 - SDF4 protein_coding This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011]. 51150 GO:0070062, GO:0032059, GO:0016020, GO:0005886, GO:0005796, GO:0005794, GO:0005783, GO:0005770, GO:0005737, extracellular exosome, bleb, membrane, plasma membrane, Golgi lumen, Golgi apparatus, endoplasmic reticulum, late endosome, cytoplasm, GO:0042802, GO:0005515, GO:0005509, GO:0005509, identical protein binding, protein binding, calcium ion binding, calcium ion binding, GO:0070625, GO:0045471, GO:0045444, GO:0021549, GO:0017156, GO:0017156, GO:0009650, zymogen granule exocytosis, response to ethanol, fat cell differentiation, cerebellum development, calcium-ion regulated exocytosis, calcium-ion regulated exocytosis, UV protection, 1035 1063 1284 674 889 660 744 704 684 ENSG00000078814 chr20 34975403 35002437 + MYH7B protein_coding The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]. 57644 GO:0032982, GO:0016459, GO:0016020, myosin filament, myosin complex, membrane, GO:0051015, GO:0005524, GO:0005515, GO:0003774, actin filament binding, ATP binding, protein binding, motor activity, 24 40 22 49 81 67 67 48 58 ENSG00000078898 chr20 33007600 33023709 + BPIFB2 protein_coding This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]. 80341 GO:0070062, GO:0005788, GO:0005576, extracellular exosome, endoplasmic reticulum lumen, extracellular region, GO:0008289, lipid binding, GO:0044267, GO:0043687, GO:0019730, cellular protein metabolic process, post-translational protein modification, antimicrobial humoral response, 0 0 0 0 0 0 0 0 0 ENSG00000078900 chr1 3652520 3736201 + TP73 protein_coding This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]. 7161 GO:0043231, GO:0030054, GO:0005829, GO:0005794, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, cell junction, cytosol, Golgi apparatus, mitochondrion, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0097371, GO:0046872, GO:0042802, GO:0019901, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0002039, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, MDM2/MDM4 family protein binding, metal ion binding, identical protein binding, protein kinase binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, p53 binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1902036, GO:1901796, GO:1900740, GO:0071158, GO:0060044, GO:0051262, GO:0048714, GO:0045944, GO:0045893, GO:0045893, GO:0045665, GO:0042981, GO:0042771, GO:0042493, GO:0016032, GO:0010468, GO:0010243, GO:0008630, GO:0007346, GO:0007050, GO:0006974, GO:0006357, GO:0006298, GO:0001822, GO:0000187, regulation of hematopoietic stem cell differentiation, regulation of signal transduction by p53 class mediator, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, positive regulation of cell cycle arrest, negative regulation of cardiac muscle cell proliferation, protein tetramerization, positive regulation of oligodendrocyte differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of neuron differentiation, regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, response to drug, viral process, regulation of gene expression, response to organonitrogen compound, intrinsic apoptotic signaling pathway in response to DNA damage, regulation of mitotic cell cycle, cell cycle arrest, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, mismatch repair, kidney development, activation of MAPK activity, 0 7 1 0 4 0 1 4 0 ENSG00000078902 chr11 1274371 1309654 - TOLLIP protein_coding This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 54472 GO:0070062, GO:0048471, GO:0035580, GO:0035578, GO:0032991, GO:0016604, GO:0005829, GO:0005737, GO:0005737, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, specific granule lumen, azurophil granule lumen, protein-containing complex, nuclear body, cytosol, cytoplasm, cytoplasm, extracellular region, GO:0043130, GO:0035325, GO:0032183, GO:0031625, GO:0031624, GO:0019900, GO:0005515, GO:0005150, ubiquitin binding, Toll-like receptor binding, SUMO binding, ubiquitin protein ligase binding, ubiquitin conjugating enzyme binding, kinase binding, protein binding, interleukin-1, type I receptor binding, GO:0070498, GO:0045321, GO:0045087, GO:0043312, GO:0036010, GO:0033235, GO:0030855, GO:0016310, GO:0007165, GO:0006954, GO:0006914, GO:0006511, interleukin-1-mediated signaling pathway, leukocyte activation, innate immune response, neutrophil degranulation, protein localization to endosome, positive regulation of protein sumoylation, epithelial cell differentiation, phosphorylation, signal transduction, inflammatory response, autophagy, ubiquitin-dependent protein catabolic process, 640 644 660 409 549 372 400 423 324 ENSG00000078967 chr7 43926438 43956136 + UBE2D4 protein_coding 51619 GO:0005634, GO:0000151, nucleus, ubiquitin ligase complex, GO:0061631, GO:0061631, GO:0031625, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0085020, GO:0070979, GO:0070979, GO:0070936, GO:0070936, GO:0070534, GO:0070534, GO:0044314, GO:0035519, GO:0016567, GO:0006511, GO:0000209, protein K6-linked ubiquitination, protein K11-linked ubiquitination, protein K11-linked ubiquitination, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein K63-linked ubiquitination, protein K63-linked ubiquitination, protein K27-linked ubiquitination, protein K29-linked ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 21 19 32 25 24 38 20 26 23 ENSG00000079101 chr18 596988 650334 + CLUL1 protein_coding 27098 GO:0005634, GO:0005615, nucleus, extracellular space, GO:0051787, misfolded protein binding, 1 0 0 0 0 0 0 0 0 ENSG00000079102 chr8 91954967 92103286 - RUNX1T1 protein_coding This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]. 862 GO:0016363, GO:0005654, GO:0005634, nuclear matrix, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003714, GO:0003714, GO:0003677, metal ion binding, protein binding, transcription corepressor activity, transcription corepressor activity, DNA binding, GO:0045892, GO:0045892, GO:0045599, GO:0006351, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of fat cell differentiation, transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000079112 chr8 94127171 94217303 - CDH17 protein_coding This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]. 1015 GO:0030054, GO:0016342, GO:0016323, GO:0016021, GO:0009986, GO:0005886, GO:0005654, cell junction, catenin complex, basolateral plasma membrane, integral component of membrane, cell surface, plasma membrane, nucleoplasm, GO:0045296, GO:0005515, GO:0005509, GO:0005427, GO:0005215, GO:0005178, cadherin binding, protein binding, calcium ion binding, proton-dependent oligopeptide secondary active transmembrane transporter activity, transporter activity, integrin binding, GO:0098742, GO:0048536, GO:0035672, GO:0034332, GO:0033626, GO:0016339, GO:0007229, GO:0007156, GO:0007156, GO:0007155, GO:0006857, GO:0002315, GO:0002314, cell-cell adhesion via plasma-membrane adhesion molecules, spleen development, oligopeptide transmembrane transport, adherens junction organization, positive regulation of integrin activation by cell surface receptor linked signal transduction, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, integrin-mediated signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, oligopeptide transport, marginal zone B cell differentiation, germinal center B cell differentiation, 0 0 0 0 0 0 3 0 0 ENSG00000079134 chr18 214520 268050 - THOC1 protein_coding HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010]. 9984 GO:0016607, GO:0016363, GO:0005737, GO:0005654, GO:0005634, GO:0000781, GO:0000445, GO:0000445, GO:0000347, GO:0000346, nuclear speck, nuclear matrix, cytoplasm, nucleoplasm, nucleus, chromosome, telomeric region, THO complex part of transcription export complex, THO complex part of transcription export complex, THO complex, transcription export complex, GO:0005515, GO:0003723, GO:0003677, protein binding, RNA binding, DNA binding, GO:2000002, GO:0048297, GO:0046784, GO:0032786, GO:0032784, GO:0032784, GO:0031297, GO:0031124, GO:0008380, GO:0007165, GO:0006915, GO:0006406, GO:0006406, GO:0006406, GO:0006406, GO:0006405, GO:0006396, GO:0000018, negative regulation of DNA damage checkpoint, negative regulation of isotype switching to IgA isotypes, viral mRNA export from host cell nucleus, positive regulation of DNA-templated transcription, elongation, regulation of DNA-templated transcription, elongation, regulation of DNA-templated transcription, elongation, replication fork processing, mRNA 3'-end processing, RNA splicing, signal transduction, apoptotic process, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, RNA processing, regulation of DNA recombination, 51 55 95 108 45 175 95 20 76 ENSG00000079150 chr2 178463664 178478600 - FKBP7 protein_coding The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]. 51661 GO:0005788, endoplasmic reticulum lumen, GO:0005515, GO:0005509, GO:0003755, protein binding, calcium ion binding, peptidyl-prolyl cis-trans isomerase activity, GO:0000413, protein peptidyl-prolyl isomerization, 0 1 2 54 60 57 70 74 63 ENSG00000079156 chr2 178194481 178402891 + OSBPL6 protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 114880 GO:0097038, GO:0097038, GO:0043231, GO:0031965, GO:0031901, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005789, perinuclear endoplasmic reticulum, perinuclear endoplasmic reticulum, intracellular membrane-bounded organelle, nuclear membrane, early endosome membrane, membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, endoplasmic reticulum membrane, GO:0032934, GO:0015485, GO:0015248, GO:0005515, sterol binding, cholesterol binding, sterol transporter activity, protein binding, GO:0032374, GO:0015918, GO:0006699, regulation of cholesterol transport, sterol transport, bile acid biosynthetic process, 10 4 14 9 10 1 1 4 1 ENSG00000079215 chr5 36606355 36688334 + SLC1A3 protein_coding This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]. 6507 GO:0098796, GO:0048471, GO:0045202, GO:0043025, GO:0043005, GO:0031410, GO:0016020, GO:0009986, GO:0009925, GO:0005887, GO:0005887, GO:0005886, membrane protein complex, perinuclear region of cytoplasm, synapse, neuronal cell body, neuron projection, cytoplasmic vesicle, membrane, cell surface, basal plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0016595, GO:0015501, GO:0015501, GO:0005515, GO:0005314, GO:0005314, GO:0005313, metal ion binding, glutamate binding, glutamate:sodium symporter activity, glutamate:sodium symporter activity, protein binding, high-affinity glutamate transmembrane transporter activity, high-affinity glutamate transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:1902476, GO:0150104, GO:0150104, GO:0140009, GO:0140009, GO:0098712, GO:0098712, GO:0071805, GO:0070779, GO:0070779, GO:0070633, GO:0051938, GO:0050885, GO:0050806, GO:0048667, GO:0046677, GO:0042493, GO:0031223, GO:0021545, GO:0015813, GO:0014047, GO:0009611, GO:0009449, GO:0009416, GO:0007605, GO:0007268, GO:0006811, GO:0001504, chloride transmembrane transport, transport across blood-brain barrier, transport across blood-brain barrier, L-aspartate import across plasma membrane, L-aspartate import across plasma membrane, L-glutamate import across plasma membrane, L-glutamate import across plasma membrane, potassium ion transmembrane transport, D-aspartate import across plasma membrane, D-aspartate import across plasma membrane, transepithelial transport, L-glutamate import, neuromuscular process controlling balance, positive regulation of synaptic transmission, cell morphogenesis involved in neuron differentiation, response to antibiotic, response to drug, auditory behavior, cranial nerve development, L-glutamate transmembrane transport, glutamate secretion, response to wounding, gamma-aminobutyric acid biosynthetic process, response to light stimulus, sensory perception of sound, chemical synaptic transmission, ion transport, neurotransmitter uptake, 1 0 2 0 5 10 0 0 4 ENSG00000079246 chr2 216107464 216206303 + XRCC5 protein_coding The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]. 7520 GO:1990904, GO:0090734, GO:0070419, GO:0043564, GO:0043564, GO:0043564, GO:0034774, GO:0032993, GO:0032991, GO:0032040, GO:0016020, GO:0005886, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005576, GO:0000783, GO:0000781, GO:0000781, GO:0000781, ribonucleoprotein complex, site of DNA damage, nonhomologous end joining complex, Ku70:Ku80 complex, Ku70:Ku80 complex, Ku70:Ku80 complex, secretory granule lumen, protein-DNA complex, protein-containing complex, small-subunit processome, membrane, plasma membrane, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, extracellular region, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, GO:0051575, GO:0045027, GO:0045027, GO:0044877, GO:0042162, GO:0042162, GO:0042162, GO:0034511, GO:0031625, GO:0008094, GO:0008047, GO:0008022, GO:0005524, GO:0005515, GO:0003723, GO:0003723, GO:0003691, GO:0003690, GO:0003684, GO:0003678, GO:0003677, GO:0000976, 5'-deoxyribose-5-phosphate lyase activity, DNA end binding, DNA end binding, protein-containing complex binding, telomeric DNA binding, telomeric DNA binding, telomeric DNA binding, U3 snoRNA binding, ubiquitin protein ligase binding, DNA-dependent ATPase activity, enzyme activator activity, protein C-terminus binding, ATP binding, protein binding, RNA binding, RNA binding, double-stranded telomeric DNA binding, double-stranded DNA binding, damaged DNA binding, DNA helicase activity, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990830, GO:1904430, GO:0075713, GO:0071481, GO:0071480, GO:0071480, GO:0071475, GO:0071398, GO:0070198, GO:0060218, GO:0051973, GO:0050769, GO:0048660, GO:0045892, GO:0045860, GO:0045087, GO:0043312, GO:0043085, GO:0042493, GO:0034462, GO:0032508, GO:0032481, GO:0032212, GO:0032204, GO:0008283, GO:0007420, GO:0006974, GO:0006310, GO:0006303, GO:0006303, GO:0006303, GO:0006303, GO:0006302, GO:0002218, GO:0000723, cellular response to leukemia inhibitory factor, negative regulation of t-circle formation, establishment of integrated proviral latency, cellular response to X-ray, cellular response to gamma radiation, cellular response to gamma radiation, cellular hyperosmotic salinity response, cellular response to fatty acid, protein localization to chromosome, telomeric region, hematopoietic stem cell differentiation, positive regulation of telomerase activity, positive regulation of neurogenesis, regulation of smooth muscle cell proliferation, negative regulation of transcription, DNA-templated, positive regulation of protein kinase activity, innate immune response, neutrophil degranulation, positive regulation of catalytic activity, response to drug, small-subunit processome assembly, DNA duplex unwinding, positive regulation of type I interferon production, positive regulation of telomere maintenance via telomerase, regulation of telomere maintenance, cell population proliferation, brain development, cellular response to DNA damage stimulus, DNA recombination, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair, activation of innate immune response, telomere maintenance, 2556 2270 2939 1100 1437 1359 1190 1323 1126 ENSG00000079257 chr3 158645822 158672693 - LXN protein_coding This gene encodes the only known protein inhibitor of zinc-dependent metallocarboxypeptidases. The encoded protein, latexin, downregulates the population size of hematopoietic stem cells. This protein is found to be downregulated in cancer cells because of promoter hypermethylation. [provided by RefSeq, Jul 2020]. 56925 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0008201, GO:0008191, GO:0005515, heparin binding, metalloendopeptidase inhibitor activity, protein binding, GO:0050965, GO:0010951, GO:0006954, detection of temperature stimulus involved in sensory perception of pain, negative regulation of endopeptidase activity, inflammatory response, 71 65 68 73 100 57 95 113 69 ENSG00000079263 chr2 230203110 230313215 + SP140 protein_coding This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]. 11262 GO:0016605, GO:0005739, GO:0005634, GO:0005634, GO:0001650, PML body, mitochondrion, nucleus, nucleus, fibrillar center, GO:0046872, GO:0005515, GO:0003677, GO:0000981, metal ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006952, GO:0006357, defense response, regulation of transcription by RNA polymerase II, 550 507 569 452 483 523 493 409 436 ENSG00000079277 chr1 46557408 46616843 - MKNK1 protein_coding This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012]. 8569 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0009931, GO:0005524, GO:0005516, GO:0005515, GO:0004683, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, calcium-dependent protein serine/threonine kinase activity, ATP binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0046777, GO:0035556, GO:0035556, GO:0018105, GO:0018105, GO:0006468, GO:0006417, protein autophosphorylation, intracellular signal transduction, intracellular signal transduction, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, protein phosphorylation, regulation of translation, 1376 1182 2611 1283 1520 2232 1416 1020 1666 ENSG00000079308 chr2 217799588 218033982 - TNS1 protein_coding The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 7145 GO:0009986, GO:0005925, GO:0005925, GO:0005856, GO:0005737, cell surface, focal adhesion, focal adhesion, cytoskeleton, cytoplasm, GO:0005515, GO:0003779, GO:0003723, protein binding, actin binding, RNA binding, GO:0010761, GO:0007044, fibroblast migration, cell-substrate junction assembly, 1 8 8 2 11 4 5 4 4 ENSG00000079313 chr19 1815246 1848463 - REXO1 protein_coding 57455 GO:0016604, GO:0005654, GO:0005634, nuclear body, nucleoplasm, nucleus, GO:0004527, GO:0003676, exonuclease activity, nucleic acid binding, GO:0090305, nucleic acid phosphodiester bond hydrolysis, 871 925 1025 654 769 795 659 624 686 ENSG00000079332 chr10 70147289 70170523 - SAR1A protein_coding 56681 GO:0070971, GO:0030127, GO:0030127, GO:0000139, endoplasmic reticulum exit site, COPII vesicle coat, COPII vesicle coat, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0090110, GO:0070863, GO:0061024, GO:0016050, GO:0006888, GO:0006886, GO:0003400, COPII-coated vesicle cargo loading, positive regulation of protein exit from endoplasmic reticulum, membrane organization, vesicle organization, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, regulation of COPII vesicle coating, 1979 2085 2681 1607 1966 2062 1631 1242 1526 ENSG00000079335 chr1 100345001 100520278 + CDC14A protein_coding The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 8556 GO:1902636, GO:1902636, GO:0072686, GO:0060091, GO:0032426, GO:0016604, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0000922, kinociliary basal body, kinociliary basal body, mitotic spindle, kinocilium, stereocilium tip, nuclear body, cytosol, centrosome, centrosome, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, spindle pole, GO:0106307, GO:0106306, GO:0008138, GO:0005515, GO:0004725, GO:0004722, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:0071850, GO:0060271, GO:0051301, GO:0035335, GO:0032467, GO:0007605, GO:0007096, GO:0000278, GO:0000226, mitotic cell cycle arrest, cilium assembly, cell division, peptidyl-tyrosine dephosphorylation, positive regulation of cytokinesis, sensory perception of sound, regulation of exit from mitosis, mitotic cell cycle, microtubule cytoskeleton organization, 258 213 387 255 265 372 333 182 227 ENSG00000079337 chr12 47734367 47771040 - RAPGEF3 protein_coding 10411 GO:0070062, GO:0030864, GO:0030175, GO:0030027, GO:0016020, GO:0012505, GO:0005902, GO:0005886, GO:0005886, extracellular exosome, cortical actin cytoskeleton, filopodium, lamellipodium, membrane, endomembrane system, microvillus, plasma membrane, plasma membrane, GO:0030552, GO:0019904, GO:0005515, GO:0005085, GO:0005085, cAMP binding, protein domain specific binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000615, GO:2000249, GO:1901985, GO:0071320, GO:0061028, GO:0060143, GO:0051496, GO:0050796, GO:0046827, GO:0045766, GO:0043547, GO:0034242, GO:0033138, GO:0032486, GO:0019933, GO:0007165, GO:0001525, regulation of histone H3-K9 acetylation, regulation of actin cytoskeleton reorganization, positive regulation of protein acetylation, cellular response to cAMP, establishment of endothelial barrier, positive regulation of syncytium formation by plasma membrane fusion, positive regulation of stress fiber assembly, regulation of insulin secretion, positive regulation of protein export from nucleus, positive regulation of angiogenesis, positive regulation of GTPase activity, negative regulation of syncytium formation by plasma membrane fusion, positive regulation of peptidyl-serine phosphorylation, Rap protein signal transduction, cAMP-mediated signaling, signal transduction, angiogenesis, 66 99 59 39 87 70 50 55 81 ENSG00000079385 chr19 42507304 42561234 - CEACAM1 protein_coding This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]. 634 GO:0070821, GO:0070062, GO:0042101, GO:0035579, GO:0031528, GO:0030658, GO:0030054, GO:0030054, GO:0016328, GO:0016324, GO:0016324, GO:0016021, GO:0016020, GO:0009986, GO:0009986, GO:0009925, GO:0005912, GO:0005911, GO:0005887, GO:0005886, GO:0005886, tertiary granule membrane, extracellular exosome, T cell receptor complex, specific granule membrane, microvillus membrane, transport vesicle membrane, cell junction, cell junction, lateral plasma membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, membrane, cell surface, cell surface, basal plasma membrane, adherens junction, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1990782, GO:0046983, GO:0042803, GO:0042802, GO:0042802, GO:0031005, GO:0019903, GO:0019900, GO:0015125, GO:0005516, GO:0005515, GO:0003779, GO:0003674, protein tyrosine kinase binding, protein dimerization activity, protein homodimerization activity, identical protein binding, identical protein binding, filamin binding, protein phosphatase binding, kinase binding, bile acid transmembrane transporter activity, calmodulin binding, protein binding, actin binding, molecular_function, GO:2001214, GO:2000346, GO:1903670, GO:1903385, GO:1901143, GO:0098742, GO:0090331, GO:0070372, GO:0060312, GO:0051055, GO:0050900, GO:0050860, GO:0045717, GO:0045601, GO:0044319, GO:0043318, GO:0043312, GO:0043116, GO:0042058, GO:0038158, GO:0038016, GO:0035726, GO:0032869, GO:0032692, GO:0030853, GO:0030334, GO:0016477, GO:0015721, GO:0014066, GO:0010594, GO:0007229, GO:0007156, GO:0007156, GO:0007155, GO:0006469, GO:0002859, GO:0001915, GO:0001568, GO:0001558, GO:0001525, positive regulation of vasculogenesis, negative regulation of hepatocyte proliferation, regulation of sprouting angiogenesis, regulation of homophilic cell adhesion, insulin catabolic process, cell-cell adhesion via plasma-membrane adhesion molecules, negative regulation of platelet aggregation, regulation of ERK1 and ERK2 cascade, regulation of blood vessel remodeling, negative regulation of lipid biosynthetic process, leukocyte migration, negative regulation of T cell receptor signaling pathway, negative regulation of fatty acid biosynthetic process, regulation of endothelial cell differentiation, wound healing, spreading of cells, negative regulation of cytotoxic T cell degranulation, neutrophil degranulation, negative regulation of vascular permeability, regulation of epidermal growth factor receptor signaling pathway, granulocyte colony-stimulating factor signaling pathway, insulin receptor internalization, common myeloid progenitor cell proliferation, cellular response to insulin stimulus, negative regulation of interleukin-1 production, negative regulation of granulocyte differentiation, regulation of cell migration, cell migration, bile acid and bile salt transport, regulation of phosphatidylinositol 3-kinase signaling, regulation of endothelial cell migration, integrin-mediated signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, negative regulation of protein kinase activity, negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, negative regulation of T cell mediated cytotoxicity, blood vessel development, regulation of cell growth, angiogenesis, 724 727 1029 267 522 489 341 422 396 ENSG00000079387 chr12 48042898 48106308 - SENP1 protein_coding This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 29843 GO:0031965, GO:0005925, GO:0005737, GO:0005654, GO:0005654, GO:0005634, nuclear membrane, focal adhesion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0070140, GO:0016929, GO:0005515, GO:0004175, SUMO-specific isopeptidase activity, SUMO-specific protease activity, protein binding, endopeptidase activity, GO:0097190, GO:0045944, GO:0032435, GO:0016926, GO:0016926, GO:0016925, GO:0010724, GO:0006919, GO:0006508, apoptotic signaling pathway, positive regulation of transcription by RNA polymerase II, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, protein desumoylation, protein desumoylation, protein sumoylation, regulation of definitive erythrocyte differentiation, activation of cysteine-type endopeptidase activity involved in apoptotic process, proteolysis, 152 153 192 93 160 154 119 92 102 ENSG00000079393 chr10 75094432 75109221 - DUSP13 protein_coding Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In mouse, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008]. 51207 GO:0106307, GO:0106306, GO:0016791, GO:0008138, GO:0005515, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, GO:0051321, GO:0035335, GO:0016311, GO:0007283, GO:0006470, meiotic cell cycle, peptidyl-tyrosine dephosphorylation, dephosphorylation, spermatogenesis, protein dephosphorylation, 27 47 43 2 17 15 2 12 12 ENSG00000079432 chr19 42268537 42295797 + CIC protein_coding The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]. 23152 GO:0043231, GO:0032991, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, protein-containing complex, nucleoplasm, nucleus, chromatin, GO:0005515, GO:0003682, GO:0003677, GO:0000981, GO:0000981, GO:0000977, protein binding, chromatin binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048286, GO:0045892, GO:0035176, GO:0007613, GO:0007612, GO:0007420, GO:0006357, lung alveolus development, negative regulation of transcription, DNA-templated, social behavior, memory, learning, brain development, regulation of transcription by RNA polymerase II, 4439 4166 5887 1588 1943 1929 1863 1452 1640 ENSG00000079435 chr19 42401507 42427426 - LIPE protein_coding The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]. 3991 GO:0016020, GO:0005901, GO:0005829, GO:0005811, membrane, caveola, cytosol, lipid droplet, GO:0102259, GO:0102258, GO:0050253, GO:0047372, GO:0033878, GO:0019901, GO:0017171, GO:0005515, GO:0004806, GO:0004771, 1,2-diacylglycerol acylhydrolase activity, 1,3-diacylglycerol acylhydrolase activity, retinyl-palmitate esterase activity, acylglycerol lipase activity, hormone-sensitive lipase activity, protein kinase binding, serine hydrolase activity, protein binding, triglyceride lipase activity, sterol esterase activity, GO:0046485, GO:0046340, GO:0042758, GO:0042572, GO:0019433, GO:0016042, GO:0008203, GO:0006468, ether lipid metabolic process, diacylglycerol catabolic process, long-chain fatty acid catabolic process, retinol metabolic process, triglyceride catabolic process, lipid catabolic process, cholesterol metabolic process, protein phosphorylation, 21 8 10 26 13 31 17 9 3 ENSG00000079459 chr8 11795573 11839309 + FDFT1 protein_coding This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]. 2222 GO:0016021, GO:0005789, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0051996, GO:0046872, GO:0005515, GO:0004310, squalene synthase activity, metal ion binding, protein binding, farnesyl-diphosphate farnesyltransferase activity, GO:0045540, GO:0045338, GO:0019216, GO:0006695, GO:0006695, GO:0006694, regulation of cholesterol biosynthetic process, farnesyl diphosphate metabolic process, regulation of lipid metabolic process, cholesterol biosynthetic process, cholesterol biosynthetic process, steroid biosynthetic process, 321 365 335 245 408 318 241 357 305 ENSG00000079462 chr19 42297033 42303546 - PAFAH1B3 protein_coding This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. 5050 GO:0016020, GO:0008247, GO:0005829, GO:0005737, membrane, 1-alkyl-2-acetylglycerophosphocholine esterase complex, cytosol, cytoplasm, GO:0047179, GO:0046982, GO:0044877, GO:0042803, GO:0042802, GO:0005515, GO:0003847, platelet-activating factor acetyltransferase activity, protein heterodimerization activity, protein-containing complex binding, protein homodimerization activity, identical protein binding, protein binding, 1-alkyl-2-acetylglycerophosphocholine esterase activity, GO:0016042, GO:0007420, GO:0007399, GO:0007283, GO:0006629, lipid catabolic process, brain development, nervous system development, spermatogenesis, lipid metabolic process, 8 8 10 19 11 21 9 10 11 ENSG00000079482 chrX 68042344 68433913 - OPHN1 protein_coding This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]. 4983 GO:0098978, GO:0098978, GO:0098978, GO:0043197, GO:0043195, GO:0015629, GO:0005829, GO:0005737, glutamatergic synapse, glutamatergic synapse, glutamatergic synapse, dendritic spine, terminal bouton, actin cytoskeleton, cytosol, cytoplasm, GO:0035255, GO:0005543, GO:0005096, GO:0003779, ionotropic glutamate receptor binding, phospholipid binding, GTPase activator activity, actin binding, GO:1901799, GO:0099149, GO:0099149, GO:0099149, GO:0051966, GO:0051056, GO:0048667, GO:0048488, GO:0045198, GO:0043547, GO:0035023, GO:0034329, GO:0031175, GO:0030182, GO:0030100, GO:0030036, GO:0021895, GO:0021707, GO:0007411, GO:0007399, GO:0007165, GO:0006930, negative regulation of proteasomal protein catabolic process, regulation of postsynaptic neurotransmitter receptor internalization, regulation of postsynaptic neurotransmitter receptor internalization, regulation of postsynaptic neurotransmitter receptor internalization, regulation of synaptic transmission, glutamatergic, regulation of small GTPase mediated signal transduction, cell morphogenesis involved in neuron differentiation, synaptic vesicle endocytosis, establishment of epithelial cell apical/basal polarity, positive regulation of GTPase activity, regulation of Rho protein signal transduction, cell junction assembly, neuron projection development, neuron differentiation, regulation of endocytosis, actin cytoskeleton organization, cerebral cortex neuron differentiation, cerebellar granule cell differentiation, axon guidance, nervous system development, signal transduction, substrate-dependent cell migration, cell extension, 0 1 3 0 0 8 1 5 0 ENSG00000079557 chr4 73481683 73504001 + AFM protein_coding This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]. 173 GO:0072562, GO:0070062, GO:0005737, GO:0005615, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0008431, GO:0008431, GO:0008431, GO:0008270, GO:0005515, GO:0005504, vitamin E binding, vitamin E binding, vitamin E binding, zinc ion binding, protein binding, fatty acid binding, GO:0071693, GO:0071693, GO:0051180, GO:0051180, GO:0050821, GO:0006810, protein transport within extracellular region, protein transport within extracellular region, vitamin transport, vitamin transport, protein stabilization, transport, 0 0 0 1 0 0 0 0 0 ENSG00000079616 chr16 29790719 29805385 + KIF22 protein_coding The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 3835 GO:0072686, GO:0016607, GO:0005874, GO:0005871, GO:0005829, GO:0005829, GO:0005634, GO:0000785, GO:0000776, mitotic spindle, nuclear speck, microtubule, kinesin complex, cytosol, cytosol, nucleus, chromatin, kinetochore, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003677, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, DNA binding, GO:0051310, GO:0019886, GO:0007080, GO:0007062, GO:0007018, GO:0007018, GO:0006890, GO:0006281, GO:0000278, metaphase plate congression, antigen processing and presentation of exogenous peptide antigen via MHC class II, mitotic metaphase plate congression, sister chromatid cohesion, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, DNA repair, mitotic cell cycle, 87 86 150 230 167 237 136 124 168 ENSG00000079689 chr6 25652201 25701783 + SCGN protein_coding The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]. 10590 GO:0045202, GO:0043195, GO:0043005, GO:0030658, GO:0030425, GO:0005829, GO:0005737, GO:0005634, GO:0005576, synapse, terminal bouton, neuron projection, transport vesicle membrane, dendrite, cytosol, cytoplasm, nucleus, extracellular region, GO:0005515, GO:0005509, GO:0005509, protein binding, calcium ion binding, calcium ion binding, GO:1900271, GO:0099509, GO:0051480, GO:0008150, regulation of long-term synaptic potentiation, regulation of presynaptic cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000079691 chr6 25279078 25620530 + CARMIL1 protein_coding 55604 GO:0070062, GO:0044354, GO:0031941, GO:0031252, GO:0030027, GO:0016607, GO:0005886, GO:0005829, GO:0005829, GO:0005654, extracellular exosome, macropinosome, filamentous actin, cell leading edge, lamellipodium, nuclear speck, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:2000813, GO:1902745, GO:1900026, GO:0051639, GO:0051638, GO:0051496, GO:0046415, GO:0044351, GO:0031529, GO:0030838, GO:0030335, GO:0030335, GO:0030032, GO:0016477, GO:0007596, GO:0007015, negative regulation of barbed-end actin filament capping, positive regulation of lamellipodium organization, positive regulation of substrate adhesion-dependent cell spreading, actin filament network formation, barbed-end actin filament uncapping, positive regulation of stress fiber assembly, urate metabolic process, macropinocytosis, ruffle organization, positive regulation of actin filament polymerization, positive regulation of cell migration, positive regulation of cell migration, lamellipodium assembly, cell migration, blood coagulation, actin filament organization, 5 0 12 18 5 19 15 8 3 ENSG00000079739 chr1 63593276 63660245 + PGM1 protein_coding The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]. 5236 GO:1904813, GO:1904724, GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, cytosol, cytosol, cytoplasm, extracellular region, GO:0005515, GO:0004614, GO:0004614, GO:0004614, GO:0000287, protein binding, phosphoglucomutase activity, phosphoglucomutase activity, phosphoglucomutase activity, magnesium ion binding, GO:0043312, GO:0019388, GO:0006096, GO:0006094, GO:0006006, GO:0006006, GO:0005980, GO:0005978, GO:0005975, neutrophil degranulation, galactose catabolic process, glycolytic process, gluconeogenesis, glucose metabolic process, glucose metabolic process, glycogen catabolic process, glycogen biosynthetic process, carbohydrate metabolic process, 203 144 224 94 84 182 115 86 110 ENSG00000079785 chr2 15591178 15631111 + DDX1 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008]. 1653 GO:1990904, GO:0072669, GO:0071920, GO:0016020, GO:0010494, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, tRNA-splicing ligase complex, cleavage body, membrane, cytoplasmic stress granule, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0033677, GO:0008143, GO:0005524, GO:0005515, GO:0004527, GO:0004518, GO:0004386, GO:0003725, GO:0003724, GO:0003723, GO:0003712, GO:0003682, GO:0003677, DNA/RNA helicase activity, poly(A) binding, ATP binding, protein binding, exonuclease activity, nuclease activity, helicase activity, double-stranded RNA binding, RNA helicase activity, RNA binding, transcription coregulator activity, chromatin binding, DNA binding, GO:1903608, GO:1903506, GO:0090305, GO:0051607, GO:0045087, GO:0043330, GO:0043123, GO:0032508, GO:0016032, GO:0007275, GO:0006446, GO:0006388, GO:0006388, GO:0006302, GO:0002735, GO:0000245, protein localization to cytoplasmic stress granule, regulation of nucleic acid-templated transcription, nucleic acid phosphodiester bond hydrolysis, defense response to virus, innate immune response, response to exogenous dsRNA, positive regulation of I-kappaB kinase/NF-kappaB signaling, DNA duplex unwinding, viral process, multicellular organism development, regulation of translational initiation, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, double-strand break repair, positive regulation of myeloid dendritic cell cytokine production, spliceosomal complex assembly, 53 44 71 84 73 132 85 39 112 ENSG00000079805 chr19 10718079 10833488 + DNM2 protein_coding Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]. 1785 GO:0099092, GO:0098844, GO:0098793, GO:0070062, GO:0048471, GO:0045211, GO:0044327, GO:0032991, GO:0032587, GO:0031966, GO:0031410, GO:0030670, GO:0030666, GO:0030496, GO:0030426, GO:0030424, GO:0030027, GO:0016020, GO:0015630, GO:0014069, GO:0005925, GO:0005905, GO:0005886, GO:0005886, GO:0005874, GO:0005829, GO:0005829, GO:0005813, GO:0005802, GO:0005794, GO:0005768, GO:0005737, GO:0005634, GO:0001917, GO:0001891, GO:0000139, postsynaptic density, intracellular component, postsynaptic endocytic zone membrane, presynapse, extracellular exosome, perinuclear region of cytoplasm, postsynaptic membrane, dendritic spine head, protein-containing complex, ruffle membrane, mitochondrial membrane, cytoplasmic vesicle, phagocytic vesicle membrane, endocytic vesicle membrane, midbody, growth cone, axon, lamellipodium, membrane, microtubule cytoskeleton, postsynaptic density, focal adhesion, clathrin-coated pit, plasma membrane, plasma membrane, microtubule, cytosol, cytosol, centrosome, trans-Golgi network, Golgi apparatus, endosome, cytoplasm, nucleus, photoreceptor inner segment, phagocytic cup, Golgi membrane, GO:0050998, GO:0050699, GO:0044877, GO:0036312, GO:0031749, GO:0019901, GO:0019899, GO:0017124, GO:0008017, GO:0008017, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, nitric-oxide synthase binding, WW domain binding, protein-containing complex binding, phosphatidylinositol 3-kinase regulatory subunit binding, D2 dopamine receptor binding, protein kinase binding, enzyme binding, SH3 domain binding, microtubule binding, microtubule binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:2000370, GO:1903526, GO:1903408, GO:1903351, GO:1902856, GO:1900026, GO:0098884, GO:0071732, GO:0071481, GO:0071245, GO:0061025, GO:0061024, GO:0060976, GO:0050999, GO:0050803, GO:0050766, GO:0048812, GO:0048489, GO:0048285, GO:0045893, GO:0045429, GO:0044351, GO:0043065, GO:0042220, GO:0035904, GO:0033572, GO:0031623, GO:0031623, GO:0030516, GO:0030512, GO:0019886, GO:0016185, GO:0010592, GO:0009416, GO:0007283, GO:0007165, GO:0006909, GO:0006898, GO:0006897, GO:0006893, GO:0006355, GO:0003374, GO:0003281, GO:0002031, GO:0000266, GO:0000086, positive regulation of clathrin-dependent endocytosis, negative regulation of membrane tubulation, positive regulation of sodium:potassium-exchanging ATPase activity, cellular response to dopamine, negative regulation of non-motile cilium assembly, positive regulation of substrate adhesion-dependent cell spreading, postsynaptic neurotransmitter receptor internalization, cellular response to nitric oxide, cellular response to X-ray, cellular response to carbon monoxide, membrane fusion, membrane organization, coronary vasculature development, regulation of nitric-oxide synthase activity, regulation of synapse structure or activity, positive regulation of phagocytosis, neuron projection morphogenesis, synaptic vesicle transport, organelle fission, positive regulation of transcription, DNA-templated, positive regulation of nitric oxide biosynthetic process, macropinocytosis, positive regulation of apoptotic process, response to cocaine, aorta development, transferrin transport, receptor internalization, receptor internalization, regulation of axon extension, negative regulation of transforming growth factor beta receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class II, synaptic vesicle budding from presynaptic endocytic zone membrane, positive regulation of lamellipodium assembly, response to light stimulus, spermatogenesis, signal transduction, phagocytosis, receptor-mediated endocytosis, endocytosis, Golgi to plasma membrane transport, regulation of transcription, DNA-templated, dynamin family protein polymerization involved in mitochondrial fission, ventricular septum development, G protein-coupled receptor internalization, mitochondrial fission, G2/M transition of mitotic cell cycle, 4054 4178 5573 3079 3660 3729 3264 2966 3098 ENSG00000079819 chr6 130839347 131063322 - EPB41L2 protein_coding 2037 GO:0099738, GO:0070062, GO:0030054, GO:0008180, GO:0008091, GO:0005925, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005654, cell cortex region, extracellular exosome, cell junction, COP9 signalosome, spectrin, focal adhesion, plasma membrane, plasma membrane, cytoskeleton, cytosol, nucleoplasm, GO:0042731, GO:0030507, GO:0005515, GO:0005198, GO:0003779, PH domain binding, spectrin binding, protein binding, structural molecule activity, actin binding, GO:1904778, GO:0051301, GO:0031032, GO:0030866, GO:0007049, positive regulation of protein localization to cell cortex, cell division, actomyosin structure organization, cortical actin cytoskeleton organization, cell cycle, 17 14 18 33 14 24 36 15 18 ENSG00000079841 chr6 71886703 72403143 + RIMS1 protein_coding The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]. 22999 GO:0048788, GO:0048786, GO:0042995, GO:0042734, GO:0042734, GO:0042734, GO:0005886, GO:0005829, cytoskeleton of presynaptic active zone, presynaptic active zone, cell projection, presynaptic membrane, presynaptic membrane, presynaptic membrane, plasma membrane, cytosol, GO:0046872, GO:0044325, GO:0031267, GO:0031267, GO:0030695, GO:0005515, GO:0003723, metal ion binding, ion channel binding, small GTPase binding, small GTPase binding, GTPase regulator activity, protein binding, RNA binding, GO:2000463, GO:2000300, GO:1903861, GO:0097151, GO:0065003, GO:0061025, GO:0060478, GO:0050896, GO:0050806, GO:0050790, GO:0048791, GO:0048167, GO:0046928, GO:0046903, GO:0045055, GO:0042391, GO:0017156, GO:0016079, GO:0014047, GO:0010628, GO:0007601, GO:0007269, GO:0006886, positive regulation of excitatory postsynaptic potential, regulation of synaptic vesicle exocytosis, positive regulation of dendrite extension, positive regulation of inhibitory postsynaptic potential, protein-containing complex assembly, membrane fusion, acrosomal vesicle exocytosis, response to stimulus, positive regulation of synaptic transmission, regulation of catalytic activity, calcium ion-regulated exocytosis of neurotransmitter, regulation of synaptic plasticity, regulation of neurotransmitter secretion, secretion, regulated exocytosis, regulation of membrane potential, calcium-ion regulated exocytosis, synaptic vesicle exocytosis, glutamate secretion, positive regulation of gene expression, visual perception, neurotransmitter secretion, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000079931 chr6 132296055 132401545 - MOXD1 protein_coding 26002 GO:0030667, GO:0016021, GO:0005789, GO:0005615, secretory granule membrane, integral component of membrane, endoplasmic reticulum membrane, extracellular space, GO:0005515, GO:0005507, GO:0004500, protein binding, copper ion binding, dopamine beta-monooxygenase activity, GO:0055114, GO:0042421, GO:0042420, GO:0006589, oxidation-reduction process, norepinephrine biosynthetic process, dopamine catabolic process, octopamine biosynthetic process, 1 2 0 0 1 0 0 0 0 ENSG00000079950 chr6 132445867 132513198 - STX7 protein_coding The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]. 8417 GO:0070820, GO:0070062, GO:0055037, GO:0048471, GO:0042582, GO:0031982, GO:0031901, GO:0031201, GO:0030139, GO:0016021, GO:0012505, GO:0008021, GO:0005886, GO:0005770, GO:0005769, GO:0005768, GO:0005765, GO:0005764, GO:0001772, tertiary granule, extracellular exosome, recycling endosome, perinuclear region of cytoplasm, azurophil granule, vesicle, early endosome membrane, SNARE complex, endocytic vesicle, integral component of membrane, endomembrane system, synaptic vesicle, plasma membrane, late endosome, early endosome, endosome, lysosomal membrane, lysosome, immunological synapse, GO:0019905, GO:0019869, GO:0005515, GO:0005484, GO:0000149, GO:0000149, syntaxin binding, chloride channel inhibitor activity, protein binding, SNAP receptor activity, SNARE binding, SNARE binding, GO:1903076, GO:1902685, GO:0070925, GO:0051640, GO:0048278, GO:0006906, GO:0006886, GO:0001916, regulation of protein localization to plasma membrane, positive regulation of receptor localization to synapse, organelle assembly, organelle localization, vesicle docking, vesicle fusion, intracellular protein transport, positive regulation of T cell mediated cytotoxicity, 1341 964 1427 866 1198 1343 1220 1017 1312 ENSG00000079974 chr22 50767501 50783663 - RABL2B protein_coding The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 11158 GO:0036064, GO:0012505, GO:0005814, GO:0005737, GO:0000242, ciliary basal body, endomembrane system, centriole, cytoplasm, pericentriolar material, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0060271, GO:0042073, GO:0006886, cilium assembly, intraciliary transport, intracellular protein transport, 80 69 92 85 73 137 102 71 96 ENSG00000079999 chr19 10486120 10503741 - KEAP1 protein_coding This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]. 9817 GO:0034451, GO:0031463, GO:0030496, GO:0016234, GO:0005829, GO:0005829, GO:0005737, GO:0005654, centriolar satellite, Cul3-RING ubiquitin ligase complex, midbody, inclusion body, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0008134, GO:0008134, GO:0005515, transcription factor binding, transcription factor binding, protein binding, GO:0043687, GO:0043433, GO:0042994, GO:0034599, GO:0032436, GO:0016579, GO:0016567, GO:0016567, GO:0016032, GO:0010506, GO:0006511, post-translational protein modification, negative regulation of DNA-binding transcription factor activity, cytoplasmic sequestering of transcription factor, cellular response to oxidative stress, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein deubiquitination, protein ubiquitination, protein ubiquitination, viral process, regulation of autophagy, ubiquitin-dependent protein catabolic process, 130 106 137 65 70 50 33 49 71 ENSG00000080007 chr6 73394748 73417569 + DDX43 protein_coding The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]. 55510 GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, 6 1 33 31 20 210 28 12 98 ENSG00000080031 chr19 55181248 55209506 - PTPRH protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. 5794 GO:0031528, GO:0016324, GO:0005887, GO:0005737, microvillus membrane, apical plasma membrane, integral component of plasma membrane, cytoplasm, GO:0045296, GO:0005515, GO:0005001, GO:0004725, cadherin binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0035335, GO:0006915, GO:0006470, peptidyl-tyrosine dephosphorylation, apoptotic process, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000080166 chr13 94436808 94479682 - DCT protein_coding 1638 GO:0043231, GO:0042470, GO:0042470, GO:0033162, GO:0016021, GO:0005886, GO:0005829, intracellular membrane-bounded organelle, melanosome, melanosome, melanosome membrane, integral component of membrane, plasma membrane, cytosol, GO:0016491, GO:0005515, GO:0005507, GO:0004167, GO:0004167, oxidoreductase activity, protein binding, copper ion binding, dopachrome isomerase activity, dopachrome isomerase activity, GO:0055114, GO:0048468, GO:0048066, GO:0042438, GO:0021847, GO:0009637, GO:0008544, GO:0006583, GO:0006583, GO:0002052, oxidation-reduction process, cell development, developmental pigmentation, melanin biosynthetic process, ventricular zone neuroblast division, response to blue light, epidermis development, melanin biosynthetic process from tyrosine, melanin biosynthetic process from tyrosine, positive regulation of neuroblast proliferation, 2 0 0 1 1 0 2 0 0 ENSG00000080189 chr20 46345980 46364458 - SLC35C2 protein_coding This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]. 51006 GO:0033116, GO:0016021, GO:0005801, GO:0005801, GO:0005794, GO:0005794, GO:0005793, GO:0005793, GO:0005654, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, cis-Golgi network, cis-Golgi network, Golgi apparatus, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, nucleoplasm, GO:0015297, antiporter activity, GO:0045747, GO:0036066, GO:0015786, GO:0010629, positive regulation of Notch signaling pathway, protein O-linked fucosylation, UDP-glucose transmembrane transport, negative regulation of gene expression, 407 515 621 370 470 592 419 418 386 ENSG00000080200 chr3 97822040 97944963 + CRYBG3 protein_coding 131544 GO:0032991, protein-containing complex, GO:0051018, GO:0030246, GO:0005212, protein kinase A binding, carbohydrate binding, structural constituent of eye lens, GO:0008150, GO:0007601, GO:0002088, biological_process, visual perception, lens development in camera-type eye, 8 24 29 66 35 65 53 28 28 ENSG00000080224 chr3 96814581 97752460 + EPHA6 protein_coding 285220 GO:0043235, GO:0043005, GO:0005887, GO:0005886, GO:0005654, receptor complex, neuron projection, integral component of plasma membrane, plasma membrane, nucleoplasm, GO:0005524, GO:0005005, GO:0004714, GO:0003674, ATP binding, transmembrane-ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, molecular_function, GO:0048013, GO:0033674, GO:0018108, GO:0008150, GO:0007411, GO:0007275, GO:0007169, ephrin receptor signaling pathway, positive regulation of kinase activity, peptidyl-tyrosine phosphorylation, biological_process, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000080293 chr2 119439843 119525301 - SCTR protein_coding The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]. 6344 GO:0016021, GO:0005886, GO:0005886, GO:0005881, integral component of membrane, plasma membrane, plasma membrane, cytoplasmic microtubule, GO:0017046, GO:0017046, GO:0015055, GO:0015055, GO:0008528, peptide hormone binding, peptide hormone binding, secretin receptor activity, secretin receptor activity, G protein-coupled peptide receptor activity, GO:0048167, GO:0043950, GO:0032098, GO:0031667, GO:0009992, GO:0007420, GO:0007188, GO:0007186, GO:0007186, GO:0007166, GO:0002024, regulation of synaptic plasticity, positive regulation of cAMP-mediated signaling, regulation of appetite, response to nutrient levels, cellular water homeostasis, brain development, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, diet induced thermogenesis, 0 0 0 4 0 0 0 0 0 ENSG00000080298 chr9 3218297 3526004 - RFX3 protein_coding This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]. 5991 GO:0005667, GO:0005634, GO:0005576, GO:0000785, GO:0000785, GO:0000785, transcription regulator complex, nucleus, extracellular region, chromatin, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000078, GO:0072560, GO:0060287, GO:0060285, GO:0060271, GO:0050796, GO:0048469, GO:0045944, GO:0045893, GO:0045892, GO:0031018, GO:0006357, GO:0006355, GO:0006351, positive regulation of type B pancreatic cell development, type B pancreatic cell maturation, epithelial cilium movement involved in determination of left/right asymmetry, cilium-dependent cell motility, cilium assembly, regulation of insulin secretion, cell maturation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, endocrine pancreas development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, transcription, DNA-templated, 208 199 224 202 220 178 238 142 180 ENSG00000080345 chr2 151409883 151508013 + RIF1 protein_coding This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. 55183 GO:0051233, GO:0035861, GO:0031965, GO:0016604, GO:0005886, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001940, GO:0001939, GO:0000793, GO:0000785, GO:0000781, spindle midzone, site of double-strand break, nuclear membrane, nuclear body, plasma membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, male pronucleus, female pronucleus, condensed chromosome, chromatin, chromosome, telomeric region, GO:0005515, protein binding, GO:2001034, GO:2000042, GO:1990830, GO:0051574, GO:0045830, GO:0043247, GO:0019827, GO:0007049, GO:0006974, GO:0006348, GO:0006303, GO:0000723, GO:0000723, GO:0000122, positive regulation of double-strand break repair via nonhomologous end joining, negative regulation of double-strand break repair via homologous recombination, cellular response to leukemia inhibitory factor, positive regulation of histone H3-K9 methylation, positive regulation of isotype switching, telomere maintenance in response to DNA damage, stem cell population maintenance, cell cycle, cellular response to DNA damage stimulus, chromatin silencing at telomere, double-strand break repair via nonhomologous end joining, telomere maintenance, telomere maintenance, negative regulation of transcription by RNA polymerase II, 682 756 834 471 572 487 459 407 373 ENSG00000080371 chr12 71754874 71800285 + RAB21 protein_coding This gene belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 2015]. 23011 GO:1904115, GO:0098559, GO:0070062, GO:0045202, GO:0032580, GO:0032154, GO:0031901, GO:0030659, GO:0012506, GO:0012505, GO:0009898, GO:0005925, GO:0005829, GO:0005802, GO:0005789, GO:0005769, GO:0005768, axon cytoplasm, cytoplasmic side of early endosome membrane, extracellular exosome, synapse, Golgi cisterna membrane, cleavage furrow, early endosome membrane, cytoplasmic vesicle membrane, vesicle membrane, endomembrane system, cytoplasmic side of plasma membrane, focal adhesion, cytosol, trans-Golgi network, endoplasmic reticulum membrane, early endosome, endosome, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:2000643, GO:0050821, GO:0050775, GO:0048260, GO:0032482, GO:0030516, GO:0017157, GO:0008089, GO:0008089, GO:0006886, positive regulation of early endosome to late endosome transport, protein stabilization, positive regulation of dendrite morphogenesis, positive regulation of receptor-mediated endocytosis, Rab protein signal transduction, regulation of axon extension, regulation of exocytosis, anterograde axonal transport, anterograde axonal transport, intracellular protein transport, 2293 2358 3476 1582 1972 2111 1635 1254 1549 ENSG00000080493 chr4 71062667 71572087 + SLC4A4 protein_coding This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 8671 GO:0070062, GO:0044214, GO:0016323, GO:0016323, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, spanning component of plasma membrane, basolateral plasma membrane, basolateral plasma membrane, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0022857, GO:0015293, GO:0008510, GO:0008510, GO:0008510, GO:0005515, GO:0005452, identical protein binding, transmembrane transporter activity, symporter activity, sodium:bicarbonate symporter activity, sodium:bicarbonate symporter activity, sodium:bicarbonate symporter activity, protein binding, inorganic anion exchanger activity, GO:0150104, GO:0098656, GO:0055085, GO:0055085, GO:0051453, GO:0051453, GO:0051453, GO:0051453, GO:0051453, GO:0050801, GO:0045821, GO:0045821, GO:0042391, GO:0042391, GO:0036376, GO:0035725, GO:0015701, GO:0015701, GO:0015701, GO:0015701, GO:0015698, GO:0006814, transport across blood-brain barrier, anion transmembrane transport, transmembrane transport, transmembrane transport, regulation of intracellular pH, regulation of intracellular pH, regulation of intracellular pH, regulation of intracellular pH, regulation of intracellular pH, ion homeostasis, positive regulation of glycolytic process, positive regulation of glycolytic process, regulation of membrane potential, regulation of membrane potential, sodium ion export across plasma membrane, sodium ion transmembrane transport, bicarbonate transport, bicarbonate transport, bicarbonate transport, bicarbonate transport, inorganic anion transport, sodium ion transport, 2 0 15 14 3 10 17 0 16 ENSG00000080503 chr9 1980290 2193624 + SMARCA2 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]. 6595 GO:0071565, GO:0071564, GO:0045111, GO:0043231, GO:0016514, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nBAF complex, npBAF complex, intermediate filament cytoskeleton, intracellular membrane-bounded organelle, SWI/SNF complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0042393, GO:0008094, GO:0008094, GO:0005524, GO:0005515, GO:0004386, GO:0003713, GO:0003682, GO:0003677, GO:0000976, histone binding, DNA-dependent ATPase activity, DNA-dependent ATPase activity, ATP binding, protein binding, helicase activity, transcription coactivator activity, chromatin binding, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0043044, GO:0030308, GO:0008285, GO:0007399, GO:0007286, GO:0006357, GO:0006355, GO:0006338, GO:0006338, GO:0000122, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, ATP-dependent chromatin remodeling, negative regulation of cell growth, negative regulation of cell population proliferation, nervous system development, spermatid development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin remodeling, chromatin remodeling, negative regulation of transcription by RNA polymerase II, 1571 1645 2077 1006 1421 1737 1390 1056 1454 ENSG00000080511 chr19 10013249 10022279 + RDH8 protein_coding This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]. 50700 GO:0005887, GO:0005737, integral component of plasma membrane, cytoplasm, GO:0052650, GO:0004745, GO:0004303, NADP-retinol dehydrogenase activity, retinol dehydrogenase activity, estradiol 17-beta-dehydrogenase activity, GO:0055114, GO:0050896, GO:0042572, GO:0007601, GO:0006703, GO:0006694, oxidation-reduction process, response to stimulus, retinol metabolic process, visual perception, estrogen biosynthetic process, steroid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000080546 chr6 108986437 109094819 - SESN1 protein_coding This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 27244 GO:0061700, GO:0061700, GO:0031932, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0001650, GATOR2 complex, GATOR2 complex, TORC2 complex, cytosol, cytoplasm, nucleoplasm, nucleus, fibrillar center, GO:0070728, GO:0070728, GO:0016684, GO:0005515, leucine binding, leucine binding, oxidoreductase activity, acting on peroxide as acceptor, protein binding, GO:1990253, GO:1904262, GO:1904262, GO:1901031, GO:0098869, GO:0072593, GO:0071233, GO:0055114, GO:0042149, GO:0034198, GO:0016239, cellular response to leucine starvation, negative regulation of TORC1 signaling, negative regulation of TORC1 signaling, regulation of response to reactive oxygen species, cellular oxidant detoxification, reactive oxygen species metabolic process, cellular response to leucine, oxidation-reduction process, cellular response to glucose starvation, cellular response to amino acid starvation, positive regulation of macroautophagy, 128 104 144 140 125 137 122 83 100 ENSG00000080561 chrX 107825755 107927193 + MID2 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]. 11043 GO:0070062, GO:0005874, GO:0005874, GO:0005737, extracellular exosome, microtubule, microtubule, cytoplasm, GO:0051219, GO:0042803, GO:0019899, GO:0016740, GO:0008270, GO:0008017, phosphoprotein binding, protein homodimerization activity, enzyme binding, transferase activity, zinc ion binding, microtubule binding, GO:1902187, GO:0051092, GO:0051091, GO:0046597, GO:0045087, GO:0043123, GO:0035372, GO:0032897, GO:0016567, GO:0010508, negative regulation of viral release from host cell, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, negative regulation of viral entry into host cell, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, protein localization to microtubule, negative regulation of viral transcription, protein ubiquitination, positive regulation of autophagy, 3 1 8 12 9 19 15 9 12 ENSG00000080572 chrX 107206632 107244243 + PIH1D3 protein_coding 139212 GO:0005802, GO:0005737, GO:0005737, trans-Golgi network, cytoplasm, cytoplasm, GO:0051087, GO:0045505, GO:0005515, chaperone binding, dynein intermediate chain binding, protein binding, GO:0070286, GO:0070286, GO:0036159, GO:0036158, GO:0030317, GO:0030317, GO:0003341, axonemal dynein complex assembly, axonemal dynein complex assembly, inner dynein arm assembly, outer dynein arm assembly, flagellated sperm motility, flagellated sperm motility, cilium movement, 0 0 0 0 0 0 0 0 0 ENSG00000080573 chr19 9959561 10010471 - COL5A3 protein_coding This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]. 50509 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005588, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type V trimer, extracellular region, GO:0043394, GO:0030020, GO:0030020, GO:0008201, GO:0005518, GO:0005201, GO:0005201, proteoglycan binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, heparin binding, collagen binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0043588, GO:0030199, GO:0030198, GO:0030198, GO:0007160, skin development, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, cell-matrix adhesion, 6 1 12 23 4 56 20 2 32 ENSG00000080603 chr16 30698209 30741409 + SRCAP protein_coding This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]. 10847 GO:0048471, GO:0032991, GO:0016604, GO:0005794, GO:0005654, GO:0005634, GO:0000812, perinuclear region of cytoplasm, protein-containing complex, nuclear body, Golgi apparatus, nucleoplasm, nucleus, Swr1 complex, GO:0042393, GO:0016887, GO:0005524, GO:0005515, GO:0004402, GO:0004386, GO:0003713, GO:0003677, histone binding, ATPase activity, ATP binding, protein binding, histone acetyltransferase activity, helicase activity, transcription coactivator activity, DNA binding, GO:1903508, GO:0043486, GO:0043044, GO:0016573, GO:0016458, GO:0016032, GO:0006357, positive regulation of nucleic acid-templated transcription, histone exchange, ATP-dependent chromatin remodeling, histone acetylation, gene silencing, viral process, regulation of transcription by RNA polymerase II, 108 121 114 70 100 97 49 65 46 ENSG00000080608 chr9 2720469 2844241 - PUM3 protein_coding 9933 GO:0005783, GO:0005730, GO:0005730, GO:0005694, GO:0005654, endoplasmic reticulum, nucleolus, nucleolus, chromosome, nucleoplasm, GO:0005515, GO:0003729, GO:0003723, GO:0003677, protein binding, mRNA binding, RNA binding, DNA binding, GO:0010835, GO:0006417, regulation of protein ADP-ribosylation, regulation of translation, 27 16 38 70 23 69 67 15 62 ENSG00000080618 chr13 46053195 46105033 - CPB2 protein_coding Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 1361 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0008270, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, GO:2000346, GO:0097421, GO:0071333, GO:0051918, GO:0042730, GO:0042493, GO:0030449, GO:0010757, GO:0009408, GO:0007596, GO:0006508, GO:0003331, negative regulation of hepatocyte proliferation, liver regeneration, cellular response to glucose stimulus, negative regulation of fibrinolysis, fibrinolysis, response to drug, regulation of complement activation, negative regulation of plasminogen activation, response to heat, blood coagulation, proteolysis, positive regulation of extracellular matrix constituent secretion, 1 0 1 0 2 3 0 0 1 ENSG00000080644 chr15 78593052 78621295 - CHRNA3 protein_coding This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]. 1136 GO:0045211, GO:0045202, GO:0044853, GO:0043025, GO:0043005, GO:0030425, GO:0016021, GO:0014069, GO:0005892, GO:0005887, GO:0005886, postsynaptic membrane, synapse, plasma membrane raft, neuronal cell body, neuron projection, dendrite, integral component of membrane, postsynaptic density, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, GO:0042166, GO:0030594, GO:0022848, GO:0022848, GO:0022848, GO:0015464, GO:0015276, GO:0005515, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, ligand-gated ion channel activity, protein binding, GO:1905144, GO:0095500, GO:0060084, GO:0060079, GO:0050877, GO:0048814, GO:0042391, GO:0042391, GO:0035095, GO:0034220, GO:0014056, GO:0007626, GO:0007399, GO:0007271, GO:0007268, GO:0007171, GO:0007165, GO:0007165, GO:0006940, GO:0006811, response to acetylcholine, acetylcholine receptor signaling pathway, synaptic transmission involved in micturition, excitatory postsynaptic potential, nervous system process, regulation of dendrite morphogenesis, regulation of membrane potential, regulation of membrane potential, behavioral response to nicotine, ion transmembrane transport, regulation of acetylcholine secretion, neurotransmission, locomotory behavior, nervous system development, synaptic transmission, cholinergic, chemical synaptic transmission, activation of transmembrane receptor protein tyrosine kinase activity, signal transduction, signal transduction, regulation of smooth muscle contraction, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000080709 chr5 114055545 114496500 + KCNN2 protein_coding Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]. 3781 GO:0043197, GO:0043025, GO:0043005, GO:0030018, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005886, dendritic spine, neuronal cell body, neuron projection, Z disc, integral component of membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, GO:0051393, GO:0042803, GO:0019904, GO:0016286, GO:0016286, GO:0016286, GO:0016286, GO:0016286, GO:0015269, GO:0005516, GO:0005515, alpha-actinin binding, protein homodimerization activity, protein domain specific binding, small conductance calcium-activated potassium channel activity, small conductance calcium-activated potassium channel activity, small conductance calcium-activated potassium channel activity, small conductance calcium-activated potassium channel activity, small conductance calcium-activated potassium channel activity, calcium-activated potassium channel activity, calmodulin binding, protein binding, GO:1901379, GO:0098914, GO:0071805, GO:0071805, GO:0071805, GO:0006813, GO:0006811, regulation of potassium ion transmembrane transport, membrane repolarization during atrial cardiac muscle cell action potential, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transport, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000080802 chr7 135361795 135510127 - CNOT4 protein_coding The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]. 4850 GO:0030014, GO:0005829, GO:0005634, CCR4-NOT complex, cytosol, nucleus, GO:0046872, GO:0005515, GO:0004842, GO:0004842, GO:0003723, metal ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, RNA binding, GO:0051865, GO:0045652, GO:0016567, GO:0006977, GO:0006511, GO:0000289, protein autoubiquitination, regulation of megakaryocyte differentiation, protein ubiquitination, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, ubiquitin-dependent protein catabolic process, nuclear-transcribed mRNA poly(A) tail shortening, 146 185 182 177 188 180 147 129 111 ENSG00000080815 chr14 73136418 73223691 + PSEN1 protein_coding Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]. 5663 GO:0099056, GO:0070765, GO:0048471, GO:0045121, GO:0045121, GO:0043198, GO:0043025, GO:0043005, GO:0042383, GO:0035577, GO:0035253, GO:0032991, GO:0031965, GO:0031901, GO:0031594, GO:0030426, GO:0030426, GO:0030054, GO:0030018, GO:0016324, GO:0016235, GO:0016021, GO:0016021, GO:0016020, GO:0009986, GO:0008021, GO:0005938, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005813, GO:0005794, GO:0005791, GO:0005790, GO:0005790, GO:0005789, GO:0005783, GO:0005783, GO:0005765, GO:0005743, GO:0005739, GO:0005654, GO:0005640, GO:0005634, GO:0005634, GO:0000776, GO:0000139, integral component of presynaptic membrane, gamma-secretase complex, perinuclear region of cytoplasm, membrane raft, membrane raft, dendritic shaft, neuronal cell body, neuron projection, sarcolemma, azurophil granule membrane, ciliary rootlet, protein-containing complex, nuclear membrane, early endosome membrane, neuromuscular junction, growth cone, growth cone, cell junction, Z disc, apical plasma membrane, aggresome, integral component of membrane, integral component of membrane, membrane, cell surface, synaptic vesicle, cell cortex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, centrosome, Golgi apparatus, rough endoplasmic reticulum, smooth endoplasmic reticulum, smooth endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, lysosomal membrane, mitochondrial inner membrane, mitochondrion, nucleoplasm, nuclear outer membrane, nucleus, nucleus, kinetochore, Golgi membrane, GO:0070851, GO:0051117, GO:0045296, GO:0042500, GO:0042500, GO:0030165, GO:0008013, GO:0008013, GO:0005515, GO:0005262, GO:0004190, GO:0004175, GO:0004175, growth factor receptor binding, ATPase binding, cadherin binding, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, PDZ domain binding, beta-catenin binding, beta-catenin binding, protein binding, calcium channel activity, aspartic-type endopeptidase activity, endopeptidase activity, endopeptidase activity, GO:2001234, GO:2000059, GO:1990535, GO:1905908, GO:1905598, GO:1904797, GO:1904646, GO:0098609, GO:0090647, GO:0090647, GO:0070588, GO:0060999, GO:0060828, GO:0060075, GO:0051966, GO:0051563, GO:0051444, GO:0051402, GO:0050852, GO:0050820, GO:0050808, GO:0050771, GO:0050673, GO:0050435, GO:0048854, GO:0048705, GO:0048666, GO:0048538, GO:0048167, GO:0048143, GO:0048013, GO:0045893, GO:0045821, GO:0043589, GO:0043524, GO:0043312, GO:0043085, GO:0043066, GO:0043066, GO:0043066, GO:0043065, GO:0043011, GO:0042987, GO:0042987, GO:0042982, GO:0042327, GO:0042325, GO:0042307, GO:0035556, GO:0035333, GO:0034205, GO:0032760, GO:0032469, GO:0032469, GO:0032469, GO:0032436, GO:0032092, GO:0031293, GO:0030326, GO:0021904, GO:0021870, GO:0021795, GO:0021549, GO:0016485, GO:0016080, GO:0015871, GO:0015031, GO:0010975, GO:0010629, GO:0010628, GO:0010468, GO:0009791, GO:0007613, GO:0007611, GO:0007611, GO:0007220, GO:0007220, GO:0007175, GO:0006979, GO:0006974, GO:0006839, GO:0006816, GO:0006509, GO:0006509, GO:0006486, GO:0003407, GO:0002286, GO:0002265, GO:0002244, GO:0002038, GO:0001947, GO:0001921, GO:0001764, GO:0001756, GO:0001708, GO:0001568, GO:0000186, GO:0000122, GO:0000045, negative regulation of apoptotic signaling pathway, negative regulation of ubiquitin-dependent protein catabolic process, neuron projection maintenance, positive regulation of amyloid fibril formation, negative regulation of low-density lipoprotein receptor activity, negative regulation of core promoter binding, cellular response to amyloid-beta, cell-cell adhesion, modulation of age-related behavioral decline, modulation of age-related behavioral decline, calcium ion transmembrane transport, positive regulation of dendritic spine development, regulation of canonical Wnt signaling pathway, regulation of resting membrane potential, regulation of synaptic transmission, glutamatergic, smooth endoplasmic reticulum calcium ion homeostasis, negative regulation of ubiquitin-protein transferase activity, neuron apoptotic process, T cell receptor signaling pathway, positive regulation of coagulation, synapse organization, negative regulation of axonogenesis, epithelial cell proliferation, amyloid-beta metabolic process, brain morphogenesis, skeletal system morphogenesis, neuron development, thymus development, regulation of synaptic plasticity, astrocyte activation, ephrin receptor signaling pathway, positive regulation of transcription, DNA-templated, positive regulation of glycolytic process, skin morphogenesis, negative regulation of neuron apoptotic process, neutrophil degranulation, positive regulation of catalytic activity, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, myeloid dendritic cell differentiation, amyloid precursor protein catabolic process, amyloid precursor protein catabolic process, amyloid precursor protein metabolic process, positive regulation of phosphorylation, regulation of phosphorylation, positive regulation of protein import into nucleus, intracellular signal transduction, Notch receptor processing, ligand-dependent, amyloid-beta formation, positive regulation of tumor necrosis factor production, endoplasmic reticulum calcium ion homeostasis, endoplasmic reticulum calcium ion homeostasis, endoplasmic reticulum calcium ion homeostasis, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, membrane protein intracellular domain proteolysis, embryonic limb morphogenesis, dorsal/ventral neural tube patterning, Cajal-Retzius cell differentiation, cerebral cortex cell migration, cerebellum development, protein processing, synaptic vesicle targeting, choline transport, protein transport, regulation of neuron projection development, negative regulation of gene expression, positive regulation of gene expression, regulation of gene expression, post-embryonic development, memory, learning or memory, learning or memory, Notch receptor processing, Notch receptor processing, negative regulation of epidermal growth factor-activated receptor activity, response to oxidative stress, cellular response to DNA damage stimulus, mitochondrial transport, calcium ion transport, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, protein glycosylation, neural retina development, T cell activation involved in immune response, astrocyte activation involved in immune response, hematopoietic progenitor cell differentiation, positive regulation of L-glutamate import across plasma membrane, heart looping, positive regulation of receptor recycling, neuron migration, somitogenesis, cell fate specification, blood vessel development, activation of MAPKK activity, negative regulation of transcription by RNA polymerase II, autophagosome assembly, 2670 2229 4540 1157 1591 1696 1360 1357 1404 ENSG00000080819 chr3 98579446 98593723 - CPOX protein_coding The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]. 1371 GO:0005829, GO:0005758, GO:0005758, GO:0005743, GO:0005739, GO:0005737, cytosol, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, cytoplasm, GO:0042803, GO:0005212, GO:0004109, protein homodimerization activity, structural constituent of eye lens, coproporphyrinogen oxidase activity, GO:0055114, GO:0051597, GO:0046685, GO:0017085, GO:0010288, GO:0010039, GO:0006783, GO:0006782, GO:0006782, oxidation-reduction process, response to methylmercury, response to arsenic-containing substance, response to insecticide, response to lead ion, response to iron ion, heme biosynthetic process, protoporphyrinogen IX biosynthetic process, protoporphyrinogen IX biosynthetic process, 17 25 35 38 14 16 25 12 29 ENSG00000080822 chr3 98497912 98523066 - CLDND1 protein_coding 56650 GO:0016021, GO:0009986, integral component of membrane, cell surface, GO:0005515, protein binding, 642 639 928 833 761 1102 894 582 768 ENSG00000080823 chr14 102224500 102305200 - MOK protein_coding This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]. 5891 GO:0097546, GO:0005929, GO:0005737, GO:0005634, GO:0005634, ciliary base, cilium, cytoplasm, nucleus, nucleus, GO:0046872, GO:0005524, GO:0004707, GO:0004693, GO:0004674, GO:0004672, metal ion binding, ATP binding, MAP kinase activity, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0051726, GO:0035556, GO:0010468, GO:0007165, GO:0006468, GO:0000165, regulation of cell cycle, intracellular signal transduction, regulation of gene expression, signal transduction, protein phosphorylation, MAPK cascade, 122 147 127 144 178 163 160 119 124 ENSG00000080824 chr14 102080738 102139699 - HSP90AA1 protein_coding The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 3320 GO:1904813, GO:0071682, GO:0070062, GO:0048471, GO:0048471, GO:0044295, GO:0044294, GO:0043209, GO:0043202, GO:0043025, GO:0043025, GO:0042470, GO:0034774, GO:0032991, GO:0032991, GO:0016020, GO:0009986, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, endocytic vesicle lumen, extracellular exosome, perinuclear region of cytoplasm, perinuclear region of cytoplasm, axonal growth cone, dendritic growth cone, myelin sheath, lysosomal lumen, neuronal cell body, neuronal cell body, melanosome, secretory granule lumen, protein-containing complex, protein-containing complex, membrane, cell surface, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, GO:1990782, GO:0097718, GO:0097718, GO:0097110, GO:0070182, GO:0051082, GO:0051020, GO:0048156, GO:0044183, GO:0042826, GO:0042803, GO:0042802, GO:0042802, GO:0031625, GO:0030911, GO:0030911, GO:0030235, GO:0023026, GO:0016887, GO:0005524, GO:0005524, GO:0005515, GO:0003723, protein tyrosine kinase binding, disordered domain specific binding, disordered domain specific binding, scaffold protein binding, DNA polymerase binding, unfolded protein binding, GTPase binding, tau protein binding, protein folding chaperone, histone deacetylase binding, protein homodimerization activity, identical protein binding, identical protein binding, ubiquitin protein ligase binding, TPR domain binding, TPR domain binding, nitric-oxide synthase regulator activity, MHC class II protein complex binding, ATPase activity, ATP binding, ATP binding, protein binding, RNA binding, GO:1905323, GO:1903827, GO:1903364, GO:1902949, GO:1900034, GO:0097711, GO:0061684, GO:0051973, GO:0051897, GO:0051131, GO:0050999, GO:0050821, GO:0050821, GO:0050821, GO:0048675, GO:0048010, GO:0046677, GO:0045429, GO:0045040, GO:0043335, GO:0043312, GO:0043254, GO:0042026, GO:0038128, GO:0038096, GO:0034605, GO:0033138, GO:0032273, GO:0031396, GO:0030010, GO:0021955, GO:0019221, GO:0016032, GO:0010389, GO:0009409, GO:0009408, GO:0007004, GO:0006986, GO:0006898, GO:0006839, GO:0006457, GO:0001934, GO:0000086, telomerase holoenzyme complex assembly, regulation of cellular protein localization, positive regulation of cellular protein catabolic process, positive regulation of tau-protein kinase activity, regulation of cellular response to heat, ciliary basal body-plasma membrane docking, chaperone-mediated autophagy, positive regulation of telomerase activity, positive regulation of protein kinase B signaling, chaperone-mediated protein complex assembly, regulation of nitric-oxide synthase activity, protein stabilization, protein stabilization, protein stabilization, axon extension, vascular endothelial growth factor receptor signaling pathway, response to antibiotic, positive regulation of nitric oxide biosynthetic process, protein insertion into mitochondrial outer membrane, protein unfolding, neutrophil degranulation, regulation of protein-containing complex assembly, protein refolding, ERBB2 signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, cellular response to heat, positive regulation of peptidyl-serine phosphorylation, positive regulation of protein polymerization, regulation of protein ubiquitination, establishment of cell polarity, central nervous system neuron axonogenesis, cytokine-mediated signaling pathway, viral process, regulation of G2/M transition of mitotic cell cycle, response to cold, response to heat, telomere maintenance via telomerase, response to unfolded protein, receptor-mediated endocytosis, mitochondrial transport, protein folding, positive regulation of protein phosphorylation, G2/M transition of mitotic cell cycle, 7442 8959 15956 62859 154778 62848 37548 53289 42861 ENSG00000080839 chr20 36996349 37095995 - RBL1 protein_coding The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5933 GO:0005667, GO:0005654, GO:0005654, GO:0000785, transcription regulator complex, nucleoplasm, nucleoplasm, chromatin, GO:1990841, GO:0008134, GO:0005515, GO:0001102, GO:0000977, promoter-specific chromatin binding, transcription factor binding, protein binding, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000773, GO:2000134, GO:0051302, GO:0045944, GO:0043550, GO:0030154, GO:0016032, GO:0010629, GO:0007049, GO:0006325, GO:0000122, negative regulation of cellular senescence, negative regulation of G1/S transition of mitotic cell cycle, regulation of cell division, positive regulation of transcription by RNA polymerase II, regulation of lipid kinase activity, cell differentiation, viral process, negative regulation of gene expression, cell cycle, chromatin organization, negative regulation of transcription by RNA polymerase II, 11 16 39 52 10 35 57 25 38 ENSG00000080845 chr20 36306336 36528637 + DLGAP4 protein_coding The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 22839 GO:0099572, GO:0098978, GO:0005886, postsynaptic specialization, glutamatergic synapse, plasma membrane, GO:0060090, GO:0005515, molecular adaptor activity, protein binding, GO:0098962, GO:0023052, regulation of postsynaptic neurotransmitter receptor activity, signaling, 615 687 1043 493 664 714 484 433 556 ENSG00000080854 chr11 133908564 133956985 - IGSF9B protein_coding 22997 GO:0099629, GO:0098982, GO:0060077, GO:0045211, GO:0043025, GO:0043005, GO:0030425, GO:0016021, GO:0014069, postsynaptic specialization of symmetric synapse, GABA-ergic synapse, inhibitory synapse, postsynaptic membrane, neuronal cell body, neuron projection, dendrite, integral component of membrane, postsynaptic density, GO:0019900, kinase binding, GO:0097151, GO:0007399, GO:0007156, positive regulation of inhibitory postsynaptic potential, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, 7 6 9 29 4 5 8 1 5 ENSG00000080910 chr1 196943756 196959226 + CFHR2 protein_coding This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]. 3080 GO:0032991, GO:0005576, protein-containing complex, extracellular region, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0051838, GO:0032091, GO:0030449, cytolysis by host of symbiont cells, negative regulation of protein binding, regulation of complement activation, 0 0 0 0 0 0 0 0 0 ENSG00000080947 chr1 16467436 16499257 - CROCCP3 transcribed_unprocessed_pseudogene 114819 22 46 45 43 53 50 31 25 50 ENSG00000080986 chr18 2571511 2616635 + NDC80 protein_coding This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011]. 10403 GO:0031262, GO:0031262, GO:0016020, GO:0005829, GO:0005813, GO:0005654, GO:0005634, GO:0000942, GO:0000778, GO:0000777, GO:0000776, GO:0000775, Ndc80 complex, Ndc80 complex, membrane, cytosol, centrosome, nucleoplasm, nucleus, condensed nuclear chromosome outer kinetochore, condensed nuclear chromosome kinetochore, condensed chromosome kinetochore, kinetochore, chromosome, centromeric region, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1905342, GO:0090267, GO:0051383, GO:0051315, GO:0051315, GO:0051310, GO:0051310, GO:0051301, GO:0051298, GO:0008608, GO:0007059, GO:0007052, GO:0000278, GO:0000132, GO:0000070, positive regulation of protein localization to kinetochore, positive regulation of mitotic cell cycle spindle assembly checkpoint, kinetochore organization, attachment of mitotic spindle microtubules to kinetochore, attachment of mitotic spindle microtubules to kinetochore, metaphase plate congression, metaphase plate congression, cell division, centrosome duplication, attachment of spindle microtubules to kinetochore, chromosome segregation, mitotic spindle organization, mitotic cell cycle, establishment of mitotic spindle orientation, mitotic sister chromatid segregation, 25 37 29 35 28 23 23 44 26 ENSG00000081014 chr15 50908672 51005900 + AP4E1 protein_coding This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 23431 GO:0032588, GO:0031904, GO:0030124, GO:0030124, trans-Golgi network membrane, endosome lumen, AP-4 adaptor complex, AP-4 adaptor complex, GO:0140312, GO:0005515, cargo adaptor activity, protein binding, GO:0008104, GO:0006898, GO:0006605, protein localization, receptor-mediated endocytosis, protein targeting, 60 117 117 93 132 166 93 88 120 ENSG00000081019 chr1 113761832 113812476 - RSBN1 protein_coding 54665 GO:0005634, nucleus, GO:0051213, GO:0046872, dioxygenase activity, metal ion binding, GO:0055114, GO:0006325, oxidation-reduction process, chromatin organization, 454 399 458 184 199 287 204 140 185 ENSG00000081026 chr1 113390749 113685923 + MAGI3 protein_coding 260425 GO:0030054, GO:0016020, GO:0005923, GO:0005911, GO:0005886, GO:0005737, GO:0005634, cell junction, membrane, bicellular tight junction, cell-cell junction, plasma membrane, cytoplasm, nucleus, GO:0060090, GO:0005524, GO:0005515, GO:0004385, molecular adaptor activity, ATP binding, protein binding, guanylate kinase activity, GO:0046710, GO:0046328, GO:0046037, GO:0035556, GO:0016032, GO:0007165, GO:0006915, GDP metabolic process, regulation of JNK cascade, GMP metabolic process, intracellular signal transduction, viral process, signal transduction, apoptotic process, 5 7 20 11 6 13 22 4 7 ENSG00000081041 chr4 74097035 74099293 - CXCL2 protein_coding This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014]. 2920 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0045236, GO:0008009, GO:0005515, CXCR chemokine receptor binding, chemokine activity, protein binding, GO:0071222, GO:0070098, GO:0061844, GO:0030593, GO:0019221, GO:0007186, GO:0006954, GO:0006935, GO:0002237, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, neutrophil chemotaxis, cytokine-mediated signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, chemotaxis, response to molecule of bacterial origin, 11 37 42 440 479 1285 1803 1302 2243 ENSG00000081051 chr4 73431138 73456174 + AFP protein_coding This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Oct 2019]. 174 GO:0005788, GO:0005737, GO:0005615, endoplasmic reticulum lumen, cytoplasm, extracellular space, GO:0008270, GO:0005515, GO:0005504, zinc ion binding, protein binding, fatty acid binding, GO:0060395, GO:0044267, GO:0043687, GO:0042448, GO:0006810, GO:0001542, SMAD protein signal transduction, cellular protein metabolic process, post-translational protein modification, progesterone metabolic process, transport, ovulation from ovarian follicle, 0 0 0 0 0 0 0 0 0 ENSG00000081052 chr2 227002711 227164453 - COL4A4 protein_coding This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]. 1286 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005604, GO:0005604, GO:0005587, GO:0005587, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, basement membrane, basement membrane, collagen type IV trimer, collagen type IV trimer, extracellular region, GO:0030020, GO:0005201, GO:0005201, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0032836, GO:0032836, GO:0030198, GO:0030198, glomerular basement membrane development, glomerular basement membrane development, extracellular matrix organization, extracellular matrix organization, 3 4 1 11 7 10 7 0 1 ENSG00000081059 chr5 134114711 134151865 + TCF7 protein_coding This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling. [provided by RefSeq, Oct 2016]. 6932 GO:1990907, GO:0016604, GO:0005654, GO:0005654, GO:0005634, GO:0000791, GO:0000785, beta-catenin-TCF complex, nuclear body, nucleoplasm, nucleoplasm, nucleus, euchromatin, chromatin, GO:1990837, GO:0008013, GO:0005515, GO:0001227, GO:0001217, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, beta-catenin binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1904837, GO:0071353, GO:0060070, GO:0048619, GO:0048557, GO:0046632, GO:0045586, GO:0044336, GO:0042492, GO:0042127, GO:0033153, GO:0030538, GO:0021915, GO:0006955, GO:0006357, GO:0006357, GO:0006355, GO:0000122, beta-catenin-TCF complex assembly, cellular response to interleukin-4, canonical Wnt signaling pathway, embryonic hindgut morphogenesis, embryonic digestive tract morphogenesis, alpha-beta T cell differentiation, regulation of gamma-delta T cell differentiation, canonical Wnt signaling pathway involved in negative regulation of apoptotic process, gamma-delta T cell differentiation, regulation of cell population proliferation, T cell receptor V(D)J recombination, embryonic genitalia morphogenesis, neural tube development, immune response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 247 217 626 1309 417 1348 1073 401 928 ENSG00000081087 chr6 108041409 108165854 - OSTM1 protein_coding This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]. 28962 GO:0016021, GO:0005829, GO:0005829, GO:0005765, integral component of membrane, cytosol, cytosol, lysosomal membrane, GO:0034220, GO:0030316, GO:0030316, ion transmembrane transport, osteoclast differentiation, osteoclast differentiation, 911 1001 831 787 970 697 825 783 465 ENSG00000081138 chr18 65750252 65890341 + CDH7 protein_coding This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]. 1005 GO:0016342, GO:0016021, GO:0005912, GO:0005886, catenin complex, integral component of membrane, adherens junction, plasma membrane, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0098609, GO:0034332, GO:0034332, GO:0016339, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, adherens junction organization, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000081148 chr3 101222546 101320560 - IMPG2 protein_coding The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]. 50939 GO:0043235, GO:0042995, GO:0033165, GO:0031012, GO:0016021, receptor complex, cell projection, interphotoreceptor matrix, extracellular matrix, integral component of membrane, GO:0008201, GO:0005540, GO:0005540, GO:0005201, heparin binding, hyaluronic acid binding, hyaluronic acid binding, extracellular matrix structural constituent, GO:0007601, visual perception, 11 11 1 5 9 14 3 7 6 ENSG00000081154 chr3 101574095 101594437 + PCNP protein_coding 57092 GO:0016604, GO:0005654, GO:0005634, GO:0005634, nuclear body, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0043161, GO:0043161, GO:0016567, GO:0016567, GO:0007049, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, cell cycle, 712 619 695 432 452 471 467 349 323 ENSG00000081177 chr14 69191511 69244020 + EXD2 protein_coding 55218 GO:0090734, GO:0016021, GO:0005759, GO:0005741, GO:0005737, GO:0005634, site of DNA damage, integral component of membrane, mitochondrial matrix, mitochondrial outer membrane, cytoplasm, nucleus, GO:0042803, GO:0030145, GO:0008852, GO:0008408, GO:0008408, GO:0008408, GO:0008310, GO:0008296, GO:0005515, GO:0003676, GO:0000287, GO:0000175, protein homodimerization activity, manganese ion binding, exodeoxyribonuclease I activity, 3'-5' exonuclease activity, 3'-5' exonuclease activity, 3'-5' exonuclease activity, single-stranded DNA 3'-5' exodeoxyribonuclease activity, 3'-5'-exodeoxyribonuclease activity, protein binding, nucleic acid binding, magnesium ion binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0090305, GO:0031297, GO:0006302, GO:0000729, GO:0000724, RNA phosphodiester bond hydrolysis, exonucleolytic, nucleic acid phosphodiester bond hydrolysis, replication fork processing, double-strand break repair, DNA double-strand break processing, double-strand break repair via homologous recombination, 6 4 6 16 3 35 8 6 6 ENSG00000081181 chr14 67619798 67651720 + ARG2 protein_coding Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008]. 384 GO:0005759, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrion, cytoplasm, GO:0030145, GO:0005515, GO:0004053, GO:0004053, manganese ion binding, protein binding, arginase activity, arginase activity, GO:2000774, GO:2000562, GO:1905403, GO:1903426, GO:1900425, GO:0071650, GO:0071644, GO:0071641, GO:0045087, GO:0032720, GO:0032700, GO:0032696, GO:0032651, GO:0019547, GO:0006941, GO:0006809, GO:0002829, GO:0002250, GO:0001657, GO:0000050, GO:0000050, positive regulation of cellular senescence, negative regulation of CD4-positive, alpha-beta T cell proliferation, negative regulation of activated CD8-positive, alpha-beta T cell apoptotic process, regulation of reactive oxygen species biosynthetic process, negative regulation of defense response to bacterium, negative regulation of chemokine (C-C motif) ligand 5 production, negative regulation of chemokine (C-C motif) ligand 4 production, negative regulation of macrophage inflammatory protein 1 alpha production, innate immune response, negative regulation of tumor necrosis factor production, negative regulation of interleukin-17 production, negative regulation of interleukin-13 production, regulation of interleukin-1 beta production, arginine catabolic process to ornithine, striated muscle contraction, nitric oxide biosynthetic process, negative regulation of type 2 immune response, adaptive immune response, ureteric bud development, urea cycle, urea cycle, 83 79 97 76 83 50 83 64 62 ENSG00000081189 chr5 88717117 88904257 - MEF2C protein_coding This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]. 4208 GO:0098794, GO:0043231, GO:0032991, GO:0016607, GO:0016528, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, postsynapse, intracellular membrane-bounded organelle, protein-containing complex, nuclear speck, sarcoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0071837, GO:0046982, GO:0042826, GO:0033613, GO:0005515, GO:0003700, GO:0003682, GO:0003680, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, HMG box domain binding, protein heterodimerization activity, histone deacetylase binding, activating transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, minor groove of adenine-thymine-rich DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001016, GO:2001013, GO:2000987, GO:2000727, GO:2000311, GO:2000310, GO:2000111, GO:1905563, GO:1904753, GO:1904753, GO:1904706, GO:1904706, GO:0072160, GO:0072102, GO:0071864, GO:0071560, GO:0071498, GO:0071374, GO:0071277, GO:0071222, GO:0061333, GO:0060998, GO:0060536, GO:0060297, GO:0060079, GO:0060045, GO:0060025, GO:0060021, GO:0055012, GO:0051966, GO:0051963, GO:0051149, GO:0051145, GO:0050853, GO:0048703, GO:0048667, GO:0048666, GO:0048643, GO:0048167, GO:0046928, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045669, GO:0045666, GO:0045663, GO:0045652, GO:0043537, GO:0043524, GO:0043523, GO:0042100, GO:0035984, GO:0035914, GO:0035690, GO:0030890, GO:0030501, GO:0030318, GO:0030279, GO:0030224, GO:0030220, GO:0030182, GO:0030182, GO:0030154, GO:0014902, GO:0014898, GO:0014033, GO:0010694, GO:0010629, GO:0010628, GO:0007611, GO:0007521, GO:0007519, GO:0007517, GO:0007507, GO:0007507, GO:0007507, GO:0007507, GO:0007399, GO:0006959, GO:0006915, GO:0006357, GO:0006355, GO:0003211, GO:0003185, GO:0003151, GO:0003139, GO:0003138, GO:0002634, GO:0002467, GO:0002062, GO:0001974, GO:0001958, GO:0001947, GO:0001782, GO:0001764, GO:0001649, GO:0001568, GO:0000165, GO:0000165, GO:0000122, positive regulation of skeletal muscle cell differentiation, epithelial cell proliferation involved in renal tubule morphogenesis, positive regulation of behavioral fear response, positive regulation of cardiac muscle cell differentiation, regulation of AMPA receptor activity, regulation of NMDA receptor activity, positive regulation of macrophage apoptotic process, negative regulation of vascular endothelial cell proliferation, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, nephron tubule epithelial cell differentiation, glomerulus morphogenesis, positive regulation of cell proliferation in bone marrow, cellular response to transforming growth factor beta stimulus, cellular response to fluid shear stress, cellular response to parathyroid hormone stimulus, cellular response to calcium ion, cellular response to lipopolysaccharide, renal tubule morphogenesis, regulation of dendritic spine development, cartilage morphogenesis, regulation of sarcomere organization, excitatory postsynaptic potential, positive regulation of cardiac muscle cell proliferation, regulation of synaptic activity, roof of mouth development, ventricular cardiac muscle cell differentiation, regulation of synaptic transmission, glutamatergic, regulation of synapse assembly, positive regulation of muscle cell differentiation, smooth muscle cell differentiation, B cell receptor signaling pathway, embryonic viscerocranium morphogenesis, cell morphogenesis involved in neuron differentiation, neuron development, positive regulation of skeletal muscle tissue development, regulation of synaptic plasticity, regulation of neurotransmitter secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of osteoblast differentiation, positive regulation of neuron differentiation, positive regulation of myoblast differentiation, regulation of megakaryocyte differentiation, negative regulation of blood vessel endothelial cell migration, negative regulation of neuron apoptotic process, regulation of neuron apoptotic process, B cell proliferation, cellular response to trichostatin A, skeletal muscle cell differentiation, cellular response to drug, positive regulation of B cell proliferation, positive regulation of bone mineralization, melanocyte differentiation, negative regulation of ossification, monocyte differentiation, platelet formation, neuron differentiation, neuron differentiation, cell differentiation, myotube differentiation, cardiac muscle hypertrophy in response to stress, neural crest cell differentiation, positive regulation of alkaline phosphatase activity, negative regulation of gene expression, positive regulation of gene expression, learning or memory, muscle cell fate determination, skeletal muscle tissue development, muscle organ development, heart development, heart development, heart development, heart development, nervous system development, humoral immune response, apoptotic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, cardiac ventricle formation, sinoatrial valve morphogenesis, outflow tract morphogenesis, secondary heart field specification, primary heart field specification, regulation of germinal center formation, germinal center formation, chondrocyte differentiation, blood vessel remodeling, endochondral ossification, heart looping, B cell homeostasis, neuron migration, osteoblast differentiation, blood vessel development, MAPK cascade, MAPK cascade, negative regulation of transcription by RNA polymerase II, 342 440 273 144 411 163 206 372 150 ENSG00000081237 chr1 198638457 198757476 + PTPRC protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]. 5788 GO:0098857, GO:0070062, GO:0045121, GO:0032059, GO:0030667, GO:0016021, GO:0016020, GO:0009986, GO:0009898, GO:0009897, GO:0005925, GO:0005887, GO:0005886, GO:0005886, membrane microdomain, extracellular exosome, membrane raft, bleb, secretory granule membrane, integral component of membrane, membrane, cell surface, cytoplasmic side of plasma membrane, external side of plasma membrane, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0043395, GO:0030507, GO:0030506, GO:0019901, GO:0008201, GO:0005515, GO:0005102, GO:0005001, GO:0004725, GO:0004725, GO:0004725, GO:0004725, heparan sulfate proteoglycan binding, spectrin binding, ankyrin binding, protein kinase binding, heparin binding, protein binding, signaling receptor binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:2001238, GO:2000648, GO:2000473, GO:1905451, GO:1904155, GO:1903979, GO:1903615, GO:0070374, GO:0070373, GO:0061099, GO:0061097, GO:0051726, GO:0051607, GO:0051209, GO:0050857, GO:0050853, GO:0050852, GO:0050852, GO:0050764, GO:0050731, GO:0050731, GO:0048864, GO:0048539, GO:0048304, GO:0046641, GO:0046425, GO:0045860, GO:0045588, GO:0045060, GO:0045059, GO:0044855, GO:0044770, GO:0043410, GO:0043312, GO:0042110, GO:0042102, GO:0042100, GO:0042098, GO:0035584, GO:0035335, GO:0034113, GO:0032760, GO:0032743, GO:0032703, GO:0032677, GO:0031953, GO:0031668, GO:0030890, GO:0030217, GO:0030183, GO:0016311, GO:0016032, GO:0010468, GO:0010332, GO:0007166, GO:0007159, GO:0006933, GO:0006470, GO:0006470, GO:0006469, GO:0006469, GO:0006469, GO:0002925, GO:0002377, GO:0002244, GO:0001960, GO:0001916, GO:0001915, GO:0001779, GO:0000187, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of stem cell proliferation, positive regulation of hematopoietic stem cell migration, positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis, DN2 thymocyte differentiation, negative regulation of microglial cell activation, positive regulation of protein tyrosine phosphatase activity, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of protein tyrosine kinase activity, regulation of protein tyrosine kinase activity, regulation of cell cycle, defense response to virus, release of sequestered calcium ion into cytosol, positive regulation of antigen receptor-mediated signaling pathway, B cell receptor signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, regulation of phagocytosis, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, stem cell development, bone marrow development, positive regulation of isotype switching to IgG isotypes, positive regulation of alpha-beta T cell proliferation, regulation of receptor signaling pathway via JAK-STAT, positive regulation of protein kinase activity, positive regulation of gamma-delta T cell differentiation, negative thymic T cell selection, positive thymic T cell selection, plasma membrane raft distribution, cell cycle phase transition, positive regulation of MAPK cascade, neutrophil degranulation, T cell activation, positive regulation of T cell proliferation, B cell proliferation, T cell proliferation, calcium-mediated signaling using intracellular calcium source, peptidyl-tyrosine dephosphorylation, heterotypic cell-cell adhesion, positive regulation of tumor necrosis factor production, positive regulation of interleukin-2 production, negative regulation of interleukin-2 production, regulation of interleukin-8 production, negative regulation of protein autophosphorylation, cellular response to extracellular stimulus, positive regulation of B cell proliferation, T cell differentiation, B cell differentiation, dephosphorylation, viral process, regulation of gene expression, response to gamma radiation, cell surface receptor signaling pathway, leukocyte cell-cell adhesion, negative regulation of cell adhesion involved in substrate-bound cell migration, protein dephosphorylation, protein dephosphorylation, negative regulation of protein kinase activity, negative regulation of protein kinase activity, negative regulation of protein kinase activity, positive regulation of humoral immune response mediated by circulating immunoglobulin, immunoglobulin production, hematopoietic progenitor cell differentiation, negative regulation of cytokine-mediated signaling pathway, positive regulation of T cell mediated cytotoxicity, negative regulation of T cell mediated cytotoxicity, natural killer cell differentiation, activation of MAPK activity, 35490 33305 36840 18488 25559 23953 21191 20191 19969 ENSG00000081248 chr1 201039512 201112566 - CACNA1S protein_coding This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]. 779 GO:1990454, GO:0031674, GO:0030315, GO:0005891, GO:0005886, GO:0005886, GO:0005737, L-type voltage-gated calcium channel complex, I band, T-tubule, voltage-gated calcium channel complex, plasma membrane, plasma membrane, cytoplasm, GO:0046872, GO:0008331, GO:0008331, GO:0005516, GO:0005515, GO:0005245, GO:0005245, metal ion binding, high voltage-gated calcium channel activity, high voltage-gated calcium channel activity, calmodulin binding, protein binding, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:0071313, GO:0070588, GO:0070509, GO:0061337, GO:0034765, GO:0006936, GO:0006816, GO:0006816, cellular response to caffeine, calcium ion transmembrane transport, calcium ion import, cardiac conduction, regulation of ion transmembrane transport, muscle contraction, calcium ion transport, calcium ion transport, 0 1 0 0 2 0 0 0 0 ENSG00000081277 chr1 201283452 201332993 + PKP1 protein_coding This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 5317 GO:1990124, GO:0101003, GO:0030057, GO:0005912, GO:0005886, GO:0005886, GO:0005886, GO:0005882, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0001533, messenger ribonucleoprotein complex, ficolin-1-rich granule membrane, desmosome, adherens junction, plasma membrane, plasma membrane, plasma membrane, intermediate filament, cytoplasm, nucleoplasm, nucleus, nucleus, cornified envelope, GO:0045296, GO:0030280, GO:0019215, GO:0005521, GO:0005515, cadherin binding, structural constituent of skin epidermis, intermediate filament binding, lamin binding, protein binding, GO:1902373, GO:0098609, GO:0070268, GO:0045110, GO:0045110, GO:0043312, GO:0031424, GO:0010628, GO:0007165, GO:0007155, GO:0007043, negative regulation of mRNA catabolic process, cell-cell adhesion, cornification, intermediate filament bundle assembly, intermediate filament bundle assembly, neutrophil degranulation, keratinization, positive regulation of gene expression, signal transduction, cell adhesion, cell-cell junction assembly, 0 0 0 0 0 0 0 0 0 ENSG00000081307 chr3 132654446 132678097 + UBA5 protein_coding This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]. 79876 GO:0043231, GO:0005829, GO:0005829, GO:0005794, GO:0005789, GO:0005737, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum membrane, cytoplasm, cytoplasm, nucleus, GO:0071566, GO:0071566, GO:0071566, GO:0042803, GO:0008270, GO:0005524, GO:0005515, UFM1 activating enzyme activity, UFM1 activating enzyme activity, UFM1 activating enzyme activity, protein homodimerization activity, zinc ion binding, ATP binding, protein binding, GO:1990592, GO:0071569, GO:0071569, GO:0071569, GO:0061709, GO:0050905, GO:0034976, GO:0034976, GO:0033146, GO:0032446, GO:0030219, GO:0030218, protein K69-linked ufmylation, protein ufmylation, protein ufmylation, protein ufmylation, reticulophagy, neuromuscular process, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, regulation of intracellular estrogen receptor signaling pathway, protein modification by small protein conjugation, megakaryocyte differentiation, erythrocyte differentiation, 24 35 45 84 48 107 64 28 60 ENSG00000081320 chr2 196133566 196176503 - STK17B protein_coding 9262 GO:0015629, GO:0005886, GO:0005793, GO:0005634, GO:0005634, actin cytoskeleton, plasma membrane, endoplasmic reticulum-Golgi intermediate compartment, nucleus, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000271, GO:0046777, GO:0043065, GO:0035556, GO:0035556, GO:0006915, GO:0006468, positive regulation of fibroblast apoptotic process, protein autophosphorylation, positive regulation of apoptotic process, intracellular signal transduction, intracellular signal transduction, apoptotic process, protein phosphorylation, 7275 8283 10118 2770 7239 6685 3492 5112 5886 ENSG00000081377 chr9 96490241 96619830 - CDC14B protein_coding The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 8555 GO:0072686, GO:0005813, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000922, mitotic spindle, centrosome, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, spindle pole, GO:0106307, GO:0106306, GO:0008138, GO:0005515, GO:0004725, GO:0004725, GO:0004722, GO:0004722, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:1904668, GO:0072425, GO:0071850, GO:0060271, GO:0035335, GO:0032467, GO:0031572, GO:0007096, GO:0006470, GO:0006470, GO:0006281, GO:0000278, GO:0000226, positive regulation of ubiquitin protein ligase activity, signal transduction involved in G2 DNA damage checkpoint, mitotic cell cycle arrest, cilium assembly, peptidyl-tyrosine dephosphorylation, positive regulation of cytokinesis, G2 DNA damage checkpoint, regulation of exit from mitosis, protein dephosphorylation, protein dephosphorylation, DNA repair, mitotic cell cycle, microtubule cytoskeleton organization, 15 16 44 22 20 40 21 15 23 ENSG00000081386 chr9 96755865 96778129 - ZNF510 protein_coding This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers. [provided by RefSeq, Sep 2015]. 22869 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 25 17 30 67 26 45 45 15 36 ENSG00000081479 chr2 169127109 169362685 - LRP2 protein_coding The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]. 4036 GO:0070062, GO:0043235, GO:0043235, GO:0043235, GO:0031904, GO:0031526, GO:0030665, GO:0030425, GO:0030424, GO:0030139, GO:0016324, GO:0016324, GO:0016324, GO:0016021, GO:0009897, GO:0005905, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005765, GO:0005764, extracellular exosome, receptor complex, receptor complex, receptor complex, endosome lumen, brush border membrane, clathrin-coated vesicle membrane, dendrite, axon, endocytic vesicle, apical plasma membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, external side of plasma membrane, clathrin-coated pit, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, lysosomal membrane, lysosome, GO:0140318, GO:0051087, GO:0051087, GO:0042562, GO:0031994, GO:0017124, GO:0005515, GO:0005509, protein transporter activity, chaperone binding, chaperone binding, hormone binding, insulin-like growth factor I binding, SH3 domain binding, protein binding, calcium ion binding, GO:1905167, GO:1904447, GO:0150104, GO:0140058, GO:0097242, GO:0071363, GO:0070447, GO:0061156, GO:0061024, GO:0060982, GO:0060068, GO:0051897, GO:0050769, GO:0045056, GO:0044321, GO:0043066, GO:0042359, GO:0035904, GO:0030900, GO:0030514, GO:0030001, GO:0015031, GO:0008584, GO:0008283, GO:0007605, GO:0006898, GO:0006898, GO:0006898, GO:0006897, GO:0006629, GO:0003281, GO:0003223, GO:0003148, GO:0003139, GO:0001843, GO:0001822, GO:0001523, positive regulation of lysosomal protein catabolic process, folate import across plasma membrane, transport across blood-brain barrier, neuron projection arborization, amyloid-beta clearance, cellular response to growth factor stimulus, positive regulation of oligodendrocyte progenitor proliferation, pulmonary artery morphogenesis, membrane organization, coronary artery morphogenesis, vagina development, positive regulation of protein kinase B signaling, positive regulation of neurogenesis, transcytosis, response to leptin, negative regulation of apoptotic process, vitamin D metabolic process, aorta development, forebrain development, negative regulation of BMP signaling pathway, metal ion transport, protein transport, male gonad development, cell population proliferation, sensory perception of sound, receptor-mediated endocytosis, receptor-mediated endocytosis, receptor-mediated endocytosis, endocytosis, lipid metabolic process, ventricular septum development, ventricular compact myocardium morphogenesis, outflow tract septum morphogenesis, secondary heart field specification, neural tube closure, kidney development, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000081665 chr19 19785839 19821751 - ZNF506 protein_coding 440515 GO:0005730, GO:0000785, nucleolus, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 250 213 473 242 228 332 256 179 203 ENSG00000081692 chr1 227730425 227735411 - JMJD4 protein_coding 65094 GO:0005737, cytoplasm, GO:0046872, GO:0016706, GO:0005515, metal ion binding, 2-oxoglutarate-dependent dioxygenase activity, protein binding, GO:0055114, GO:0045905, GO:0018126, oxidation-reduction process, positive regulation of translational termination, protein hydroxylation, 7 3 7 27 4 31 18 13 3 ENSG00000081721 chr1 161749758 161757238 + DUSP12 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008]. 11266 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0106307, GO:0106306, GO:0019900, GO:0016791, GO:0008270, GO:0008138, GO:0005515, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, kinase binding, phosphatase activity, zinc ion binding, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, GO:0035335, GO:0033133, GO:0016311, GO:0006470, GO:0006464, peptidyl-tyrosine dephosphorylation, positive regulation of glucokinase activity, dephosphorylation, protein dephosphorylation, cellular protein modification process, 30 28 37 23 32 8 11 25 36 ENSG00000081760 chr12 125065379 125143333 + AACS protein_coding 65985 GO:0005829, GO:0005829, cytosol, cytosol, GO:0047760, GO:0030729, GO:0030729, GO:0005524, GO:0005515, butyrate-CoA ligase activity, acetoacetate-CoA ligase activity, acetoacetate-CoA ligase activity, ATP binding, protein binding, GO:0071397, GO:0071394, GO:0071333, GO:0060612, GO:0050872, GO:0046951, GO:0045471, GO:0042594, GO:0042493, GO:0034201, GO:0032024, GO:0014074, GO:0007584, GO:0006631, GO:0001889, cellular response to cholesterol, cellular response to testosterone stimulus, cellular response to glucose stimulus, adipose tissue development, white fat cell differentiation, ketone body biosynthetic process, response to ethanol, response to starvation, response to drug, response to oleic acid, positive regulation of insulin secretion, response to purine-containing compound, response to nutrient, fatty acid metabolic process, liver development, 28 38 52 47 31 44 55 32 47 ENSG00000081791 chr5 141923808 141942047 + DELE1 protein_coding 9812 GO:0005829, GO:0005743, GO:0005739, GO:0005739, cytosol, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0043281, GO:0043281, GO:0008625, GO:0008625, regulation of cysteine-type endopeptidase activity involved in apoptotic process, regulation of cysteine-type endopeptidase activity involved in apoptotic process, extrinsic apoptotic signaling pathway via death domain receptors, extrinsic apoptotic signaling pathway via death domain receptors, 506 616 760 429 576 596 416 454 495 ENSG00000081800 chr7 123113531 123199986 - SLC13A1 protein_coding The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]. 6561 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015382, GO:0015382, sodium:sulfate symporter activity, sodium:sulfate symporter activity, GO:1902358, GO:0098656, GO:0008272, GO:0006814, sulfate transmembrane transport, anion transmembrane transport, sulfate transport, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000081803 chr7 122318425 122886759 - CADPS2 protein_coding This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]. 93664 GO:0098978, GO:0098688, GO:0045211, GO:0043231, GO:0042734, GO:0030659, GO:0005654, glutamatergic synapse, parallel fiber to Purkinje cell synapse, postsynaptic membrane, intracellular membrane-bounded organelle, presynaptic membrane, cytoplasmic vesicle membrane, nucleoplasm, GO:0046872, GO:0008289, metal ion binding, lipid binding, GO:1990504, GO:0045921, GO:0016082, GO:0015031, GO:0009267, GO:0006887, dense core granule exocytosis, positive regulation of exocytosis, synaptic vesicle priming, protein transport, cellular response to starvation, exocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000081818 chr5 141121799 141125623 + PCDHB4 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56131 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007416, GO:0007399, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, nervous system development, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000081842 chr5 140827958 141012344 + PCDHA6 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56142 GO:0005887, GO:0005576, integral component of plasma membrane, extracellular region, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000081853 chr5 141338760 141512979 + PCDHGA2 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56113 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000081870 chr1 53916574 53945929 - HSPB11 protein_coding 51668 GO:0097542, GO:0030992, GO:0030992, GO:0005929, GO:0005929, GO:0005813, ciliary tip, intraciliary transport particle B, intraciliary transport particle B, cilium, cilium, centrosome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0070986, GO:0060271, GO:0035735, GO:0030324, GO:0030154, GO:0007507, GO:0007283, GO:0007224, GO:0001822, GO:0001501, left/right axis specification, cilium assembly, intraciliary transport involved in cilium assembly, lung development, cell differentiation, heart development, spermatogenesis, smoothened signaling pathway, kidney development, skeletal system development, 34 52 67 59 49 60 56 60 62 ENSG00000081913 chr18 62715450 62980433 + PHLPP1 protein_coding This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]. 23239 GO:0043231, GO:0005886, GO:0005829, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, plasma membrane, cytosol, cytoplasm, nucleus, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, protein serine/threonine phosphatase activity, GO:1900744, GO:0051898, GO:0051898, GO:0046328, GO:0043408, GO:0042981, GO:0009649, GO:0007165, GO:0006915, GO:0006470, GO:0002667, regulation of p38MAPK cascade, negative regulation of protein kinase B signaling, negative regulation of protein kinase B signaling, regulation of JNK cascade, regulation of MAPK cascade, regulation of apoptotic process, entrainment of circadian clock, signal transduction, apoptotic process, protein dephosphorylation, regulation of T cell anergy, 167 155 175 108 135 91 96 106 97 ENSG00000081923 chr18 57646426 57803315 - ATP8B1 protein_coding This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]. 5205 GO:1990531, GO:0032420, GO:0031526, GO:0016604, GO:0016324, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005794, GO:0005783, GO:0005654, phospholipid-translocating ATPase complex, stereocilium, brush border membrane, nuclear body, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, trans-Golgi network, Golgi apparatus, endoplasmic reticulum, nucleoplasm, GO:1901612, GO:0140346, GO:0140326, GO:0140326, GO:0005524, GO:0005515, GO:0000287, cardiolipin binding, phosphatidylserine flippase activity, ATPase-coupled intramembrane lipid transporter activity, ATPase-coupled intramembrane lipid transporter activity, ATP binding, protein binding, magnesium ion binding, GO:2001225, GO:0140331, GO:0060119, GO:0045892, GO:0045332, GO:0045332, GO:0045332, GO:0045176, GO:0034220, GO:0032534, GO:0021650, GO:0015721, GO:0008206, GO:0007605, GO:0007030, GO:0006855, regulation of chloride transport, aminophospholipid translocation, inner ear receptor cell development, negative regulation of transcription, DNA-templated, phospholipid translocation, phospholipid translocation, phospholipid translocation, apical protein localization, ion transmembrane transport, regulation of microvillus assembly, vestibulocochlear nerve formation, bile acid and bile salt transport, bile acid metabolic process, sensory perception of sound, Golgi organization, drug transmembrane transport, 6 2 3 6 5 7 12 5 5 ENSG00000081985 chr1 67307364 67397090 + IL12RB2 protein_coding The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]. 3595 GO:0043235, GO:0009897, GO:0005887, GO:0005886, GO:0005886, receptor complex, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0019955, GO:0004896, GO:0004896, cytokine binding, cytokine receptor activity, cytokine receptor activity, GO:0070757, GO:0035722, GO:0032729, GO:0019221, GO:0008284, GO:0007166, interleukin-35-mediated signaling pathway, interleukin-12-mediated signaling pathway, positive regulation of interferon-gamma production, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, cell surface receptor signaling pathway, 10 12 23 18 9 18 17 5 3 ENSG00000082014 chr7 151238764 151277896 - SMARCD3 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. 6604 GO:0071565, GO:0071564, GO:0071564, GO:0016514, GO:0016514, GO:0016514, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nBAF complex, npBAF complex, npBAF complex, SWI/SNF complex, SWI/SNF complex, SWI/SNF complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0035257, GO:0008134, GO:0005102, GO:0003713, GO:0003682, GO:0001228, nuclear hormone receptor binding, transcription factor binding, signaling receptor binding, transcription coactivator activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, GO:0051152, GO:0045944, GO:0045893, GO:0043393, GO:0042692, GO:0019216, GO:0010971, GO:0006357, GO:0006338, GO:0006338, GO:0006337, GO:0006337, GO:0003407, GO:0003219, GO:0003139, GO:0002052, positive regulation of smooth muscle cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of protein binding, muscle cell differentiation, regulation of lipid metabolic process, positive regulation of G2/M transition of mitotic cell cycle, regulation of transcription by RNA polymerase II, chromatin remodeling, chromatin remodeling, nucleosome disassembly, nucleosome disassembly, neural retina development, cardiac right ventricle formation, secondary heart field specification, positive regulation of neuroblast proliferation, 65 116 250 63 143 212 81 124 146 ENSG00000082068 chr5 37379212 37753435 + WDR70 protein_coding 55100 GO:0035861, GO:0005634, site of double-strand break, nucleus, GO:0019899, enzyme binding, GO:2001173, GO:1903775, regulation of histone H2B conserved C-terminal lysine ubiquitination, regulation of DNA double-strand break processing, 45 30 57 43 41 80 45 37 65 ENSG00000082074 chr5 39105255 39274528 - FYB1 protein_coding The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. 2533 GO:0032991, GO:0030054, GO:0015629, GO:0005886, GO:0005829, GO:0005634, protein-containing complex, cell junction, actin cytoskeleton, plasma membrane, cytosol, nucleus, GO:0044877, GO:0008289, GO:0005515, GO:0005102, protein-containing complex binding, lipid binding, protein binding, signaling receptor binding, GO:0072659, GO:0050852, GO:0050852, GO:0008150, GO:0007229, GO:0006955, protein localization to plasma membrane, T cell receptor signaling pathway, T cell receptor signaling pathway, biological_process, integrin-mediated signaling pathway, immune response, 11801 13799 15310 5524 10990 9362 7130 8587 8362 ENSG00000082126 chr2 201644870 201698694 - MPP4 protein_coding This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 58538 GO:0032991, GO:0015629, GO:0005912, GO:0005829, protein-containing complex, actin cytoskeleton, adherens junction, cytosol, GO:0005515, protein binding, GO:0035418, GO:0008150, protein localization to synapse, biological_process, 0 0 2 0 9 0 0 0 0 ENSG00000082146 chr2 201387858 201480846 + STRADB protein_coding This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 55437 GO:0016235, GO:0005829, GO:0005829, GO:0005737, GO:0005634, aggresome, cytosol, cytosol, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0004672, ATP binding, protein binding, protein kinase activity, GO:2001240, GO:0032147, GO:0007050, GO:0006611, GO:0006468, GO:0000902, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, activation of protein kinase activity, cell cycle arrest, protein export from nucleus, protein phosphorylation, cell morphogenesis, 25 17 23 47 21 39 59 29 30 ENSG00000082153 chr2 200810594 200827338 + BZW1 protein_coding 9689 GO:0016020, GO:0005737, GO:0005737, membrane, cytoplasm, cytoplasm, GO:0045296, GO:0003723, cadherin binding, RNA binding, 2065 1873 2989 1592 1495 2091 1511 1292 1461 ENSG00000082175 chr11 101029624 101130524 - PGR protein_coding This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]. 5241 GO:0005829, GO:0005741, GO:0005654, GO:0000785, GO:0000785, cytosol, mitochondrial outer membrane, nucleoplasm, chromatin, chromatin, GO:0051117, GO:0042802, GO:0019899, GO:0008270, GO:0005515, GO:0005496, GO:0004879, GO:0003707, GO:0003677, GO:0001228, GO:0001225, GO:0000981, GO:0000978, GO:0000978, ATPase binding, identical protein binding, enzyme binding, zinc ion binding, protein binding, steroid binding, nuclear receptor activity, steroid hormone receptor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription coactivator binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060748, GO:0050847, GO:0050678, GO:0048286, GO:0045944, GO:0038001, GO:0030518, GO:0010629, GO:0007267, GO:0007165, GO:0006367, GO:0006357, GO:0002070, GO:0001542, tertiary branching involved in mammary gland duct morphogenesis, progesterone receptor signaling pathway, regulation of epithelial cell proliferation, lung alveolus development, positive regulation of transcription by RNA polymerase II, paracrine signaling, intracellular steroid hormone receptor signaling pathway, negative regulation of gene expression, cell-cell signaling, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, epithelial cell maturation, ovulation from ovarian follicle, 0 0 0 0 0 0 0 0 0 ENSG00000082196 chr5 34019448 34043832 - C1QTNF3 protein_coding 114899 GO:0070062, GO:0016020, GO:0005581, extracellular exosome, membrane, collagen trimer, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:1901223, GO:0071638, GO:0070165, GO:0050728, GO:0045721, GO:0045444, GO:0035356, GO:0032715, GO:0001819, negative regulation of NIK/NF-kappaB signaling, negative regulation of monocyte chemotactic protein-1 production, positive regulation of adiponectin secretion, negative regulation of inflammatory response, negative regulation of gluconeogenesis, fat cell differentiation, cellular triglyceride homeostasis, negative regulation of interleukin-6 production, positive regulation of cytokine production, 3 4 4 9 4 3 5 2 0 ENSG00000082212 chr18 50878734 50954257 + ME2 protein_coding This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]. 4200 GO:0043231, GO:0005759, GO:0005739, GO:0005739, intracellular membrane-bounded organelle, mitochondrial matrix, mitochondrion, mitochondrion, GO:0051287, GO:0046872, GO:0009055, GO:0008948, GO:0004473, GO:0004471, GO:0004470, GO:0004470, NAD binding, metal ion binding, electron transfer activity, oxaloacetate decarboxylase activity, malate dehydrogenase (decarboxylating) (NADP+) activity, malate dehydrogenase (decarboxylating) (NAD+) activity, malic enzyme activity, malic enzyme activity, GO:1902031, GO:0022900, GO:0006108, GO:0006099, GO:0006090, regulation of NADP metabolic process, electron transport chain, malate metabolic process, tricarboxylic acid cycle, pyruvate metabolic process, 550 580 513 391 727 674 574 561 610 ENSG00000082213 chr5 31532266 31555058 + C5orf22 protein_coding 55322 GO:0005515, protein binding, 19 38 50 38 40 71 36 56 30 ENSG00000082258 chr2 134918235 134959342 + CCNT2 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]. 905 GO:0048471, GO:0008024, GO:0008024, GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, cyclin/CDK positive transcription elongation factor complex, cyclin/CDK positive transcription elongation factor complex, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0097322, GO:0070063, GO:0061575, GO:0016538, GO:0005515, GO:0003682, GO:0001223, 7SK snRNA binding, RNA polymerase binding, cyclin-dependent protein serine/threonine kinase activator activity, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, chromatin binding, transcription coactivator binding, GO:0051301, GO:0045944, GO:0045944, GO:0045737, GO:0042795, GO:0032786, GO:0019086, GO:0019085, GO:0007519, GO:0007049, GO:0006368, GO:0006366, GO:0006357, GO:0000079, cell division, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of cyclin-dependent protein serine/threonine kinase activity, snRNA transcription by RNA polymerase II, positive regulation of DNA-templated transcription, elongation, late viral transcription, early viral transcription, skeletal muscle tissue development, cell cycle, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 1396 1090 1905 1140 1184 1437 1368 829 1160 ENSG00000082269 chr6 70412941 70561174 + FAM135A protein_coding 57579 GO:0044255, cellular lipid metabolic process, 26 9 20 33 19 53 13 6 21 ENSG00000082293 chr6 69866571 70209976 + COL19A1 protein_coding This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]. 1310 GO:0062023, GO:0031012, GO:0031012, GO:0005788, GO:0005615, GO:0005581, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen trimer, extracellular region, GO:0030674, GO:0030020, GO:0005201, GO:0005201, protein-macromolecule adaptor activity, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0098609, GO:0030574, GO:0030198, GO:0030198, GO:0030154, GO:0007519, GO:0007155, GO:0001501, cell-cell adhesion, collagen catabolic process, extracellular matrix organization, extracellular matrix organization, cell differentiation, skeletal muscle tissue development, cell adhesion, skeletal system development, 1 9 2 5 12 5 8 11 8 ENSG00000082397 chr18 5392381 5630700 - EPB41L3 protein_coding 23136 GO:0044224, GO:0033270, GO:0030673, GO:0030054, GO:0014069, GO:0005911, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005829, juxtaparanode region of axon, paranode region of axon, axolemma, cell junction, postsynaptic density, cell-cell junction, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0106006, GO:0005515, GO:0005200, GO:0003779, cytoskeletal protein-membrane anchor activity, protein binding, structural constituent of cytoskeleton, actin binding, GO:0072659, GO:0071205, GO:0048812, GO:0043217, GO:0031032, GO:0030913, GO:0030866, GO:0030865, GO:0008360, GO:0008150, GO:0006915, GO:0002175, GO:0001558, protein localization to plasma membrane, protein localization to juxtaparanode region of axon, neuron projection morphogenesis, myelin maintenance, actomyosin structure organization, paranodal junction assembly, cortical actin cytoskeleton organization, cortical cytoskeleton organization, regulation of cell shape, biological_process, apoptotic process, protein localization to paranode region of axon, regulation of cell growth, 9 13 42 37 33 26 24 14 14 ENSG00000082438 chr2 164653624 164843679 - COBLL1 protein_coding 22837 GO:0070062, extracellular exosome, GO:0045296, GO:0003785, cadherin binding, actin monomer binding, 7 9 6 23 9 18 10 12 11 ENSG00000082458 chrX 70444861 70505490 + DLG3 protein_coding This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]. 1741 GO:0099092, GO:0098978, GO:0043198, GO:0043025, GO:0032281, GO:0030426, GO:0030054, GO:0016323, GO:0008328, GO:0005923, GO:0005886, GO:0005829, GO:0005615, postsynaptic density, intracellular component, glutamatergic synapse, dendritic shaft, neuronal cell body, AMPA glutamate receptor complex, growth cone, cell junction, basolateral plasma membrane, ionotropic glutamate receptor complex, bicellular tight junction, plasma membrane, cytosol, extracellular space, GO:0098919, GO:0035255, GO:0031625, GO:0030165, GO:0019903, GO:0019902, GO:0019900, GO:0008022, GO:0005515, structural constituent of postsynaptic density, ionotropic glutamate receptor binding, ubiquitin protein ligase binding, PDZ domain binding, protein phosphatase binding, phosphatase binding, kinase binding, protein C-terminus binding, protein binding, GO:2000310, GO:0099562, GO:0099072, GO:0098609, GO:0097120, GO:0061098, GO:0045197, GO:0043113, GO:0010923, GO:0009790, GO:0008285, GO:0001736, GO:0000165, regulation of NMDA receptor activity, maintenance of postsynaptic density structure, regulation of postsynaptic membrane neurotransmitter receptor levels, cell-cell adhesion, receptor localization to synapse, positive regulation of protein tyrosine kinase activity, establishment or maintenance of epithelial cell apical/basal polarity, receptor clustering, negative regulation of phosphatase activity, embryo development, negative regulation of cell population proliferation, establishment of planar polarity, MAPK cascade, 11 4 24 32 2 43 25 8 39 ENSG00000082482 chr1 215005775 215237093 + KCNK2 protein_coding This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3776 GO:0097449, GO:0044305, GO:0043025, GO:0016324, GO:0009986, GO:0008076, GO:0005887, GO:0005886, GO:0005789, GO:0005634, astrocyte projection, calyx of Held, neuronal cell body, apical plasma membrane, cell surface, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, nucleus, GO:0022841, GO:0022841, GO:0015271, GO:0015271, potassium ion leak channel activity, potassium ion leak channel activity, outward rectifier potassium channel activity, outward rectifier potassium channel activity, GO:2000279, GO:1900039, GO:0090102, GO:0071805, GO:0071805, GO:0071456, GO:0060044, GO:0048678, GO:0030322, GO:0010942, GO:0009612, GO:0007613, GO:0007186, GO:0003231, negative regulation of DNA biosynthetic process, positive regulation of cellular response to hypoxia, cochlea development, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to hypoxia, negative regulation of cardiac muscle cell proliferation, response to axon injury, stabilization of membrane potential, positive regulation of cell death, response to mechanical stimulus, memory, G protein-coupled receptor signaling pathway, cardiac ventricle development, 0 0 0 0 0 0 0 0 0 ENSG00000082497 chr1 210232799 210246631 + SERTAD4 protein_coding 56256 GO:0005634, nucleus, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000082512 chr1 211326615 211374946 + TRAF5 protein_coding The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 7188 GO:0098802, GO:0035631, GO:0009898, GO:0009898, GO:0005829, GO:0005813, plasma membrane signaling receptor complex, CD40 receptor complex, cytoplasmic side of plasma membrane, cytoplasmic side of plasma membrane, cytosol, centrosome, GO:0042802, GO:0031996, GO:0031996, GO:0031625, GO:0031625, GO:0008270, GO:0005515, GO:0005164, GO:0004842, identical protein binding, thioesterase binding, thioesterase binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, zinc ion binding, protein binding, tumor necrosis factor receptor binding, ubiquitin-protein transferase activity, GO:0070534, GO:0051092, GO:0051091, GO:0046330, GO:0043123, GO:0043122, GO:0042981, GO:0033209, GO:0007165, GO:0006915, protein K63-linked ubiquitination, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of JNK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, signal transduction, apoptotic process, 59 24 94 170 69 200 154 51 109 ENSG00000082515 chr5 154941070 154969411 + MRPL22 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 29093 GO:0015934, GO:0005762, GO:0005762, GO:0005743, GO:0005739, GO:0005739, large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0042255, mitochondrial translational termination, mitochondrial translational elongation, ribosome assembly, 13 18 20 33 13 36 39 30 33 ENSG00000082516 chr5 154887416 154938209 - GEMIN5 protein_coding This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 25929 GO:0097504, GO:0034719, GO:0034718, GO:0032797, GO:0016604, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, Gemini of coiled bodies, SMN-Sm protein complex, SMN-Gemin2 complex, SMN complex, nuclear body, membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0043022, GO:0030622, GO:0030621, GO:0030619, GO:0017069, GO:0005515, GO:0003730, GO:0003723, GO:0000340, ribosome binding, U4atac snRNA binding, U4 snRNA binding, U1 snRNA binding, snRNA binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA 7-methylguanosine cap binding, GO:0065003, GO:0051170, GO:0006417, GO:0006412, GO:0000398, GO:0000387, GO:0000387, protein-containing complex assembly, import into nucleus, regulation of translation, translation, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 10 15 19 26 27 34 49 14 16 ENSG00000082556 chr8 53225716 53251697 - OPRK1 protein_coding This gene encodes an opioid receptor, which is a member of the 7 transmembrane-spanning G protein-coupled receptor family. It functions as a receptor for endogenous ligands, as well as a receptor for various synthetic opioids. Ligand binding results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid receptor plays a role in the perception of pain and mediating the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations in this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. 4986 GO:0099055, GO:0043679, GO:0043204, GO:0043005, GO:0030425, GO:0030285, GO:0016021, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005654, integral component of postsynaptic membrane, axon terminus, perikaryon, neuron projection, dendrite, integral component of synaptic vesicle membrane, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, GO:0042923, GO:0042277, GO:0038048, GO:0038048, GO:0038048, GO:0033612, GO:0005515, GO:0004985, GO:0004930, neuropeptide binding, peptide binding, dynorphin receptor activity, dynorphin receptor activity, dynorphin receptor activity, receptor serine/threonine kinase binding, protein binding, opioid receptor activity, G protein-coupled receptor activity, GO:1990708, GO:1904000, GO:1903937, GO:1901381, GO:1900745, GO:0071333, GO:0071222, GO:0051930, GO:0051607, GO:0050951, GO:0048148, GO:0046877, GO:0045471, GO:0044849, GO:0043627, GO:0043278, GO:0042755, GO:0042711, GO:0040017, GO:0038003, GO:0038003, GO:0033685, GO:0033603, GO:0032868, GO:0031635, GO:0019233, GO:0019233, GO:0009314, GO:0007626, GO:0007600, GO:0007268, GO:0007218, GO:0007200, GO:0007193, GO:0007186, GO:0006955, conditioned place preference, positive regulation of eating behavior, response to acrylamide, positive regulation of potassium ion transmembrane transport, positive regulation of p38MAPK cascade, cellular response to glucose stimulus, cellular response to lipopolysaccharide, regulation of sensory perception of pain, defense response to virus, sensory perception of temperature stimulus, behavioral response to cocaine, regulation of saliva secretion, response to ethanol, estrous cycle, response to estrogen, response to morphine, eating behavior, maternal behavior, positive regulation of locomotion, opioid receptor signaling pathway, opioid receptor signaling pathway, negative regulation of luteinizing hormone secretion, positive regulation of dopamine secretion, response to insulin, adenylate cyclase-inhibiting opioid receptor signaling pathway, sensory perception of pain, sensory perception of pain, response to radiation, locomotory behavior, sensory perception, chemical synaptic transmission, neuropeptide signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000082641 chr17 48048329 48061487 + NFE2L1 protein_coding This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for 'nuclear respiratory factor 1' which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]. 4779 GO:0032991, GO:0016021, GO:0005829, GO:0005789, GO:0005654, GO:0005634, GO:0000785, protein-containing complex, integral component of membrane, cytosol, endoplasmic reticulum membrane, nucleoplasm, nucleus, chromatin, GO:1990841, GO:0044877, GO:0019904, GO:0015485, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, promoter-specific chromatin binding, protein-containing complex binding, protein domain specific binding, cholesterol binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1905897, GO:1903353, GO:0071397, GO:0071280, GO:0070417, GO:0061136, GO:0051156, GO:0050727, GO:0045944, GO:0042883, GO:0042632, GO:0034976, GO:0034599, GO:0030218, GO:0021781, GO:0021522, GO:0019725, GO:0019217, GO:0010906, GO:0009653, GO:0008203, GO:0007088, GO:0006783, GO:0006749, GO:0006357, GO:0006357, GO:0006002, GO:0000209, regulation of response to endoplasmic reticulum stress, regulation of nucleus organization, cellular response to cholesterol, cellular response to copper ion, cellular response to cold, regulation of proteasomal protein catabolic process, glucose 6-phosphate metabolic process, regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, cysteine transport, cholesterol homeostasis, response to endoplasmic reticulum stress, cellular response to oxidative stress, erythrocyte differentiation, glial cell fate commitment, spinal cord motor neuron differentiation, cellular homeostasis, regulation of fatty acid metabolic process, regulation of glucose metabolic process, anatomical structure morphogenesis, cholesterol metabolic process, regulation of mitotic nuclear division, heme biosynthetic process, glutathione metabolic process, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, fructose 6-phosphate metabolic process, protein polyubiquitination, 580 544 548 175 324 367 284 299 212 ENSG00000082684 chr3 122909082 123028605 - SEMA5B protein_coding This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 54437 GO:0016021, integral component of membrane, GO:0045499, GO:0030215, chemorepellent activity, semaphorin receptor binding, GO:0071526, GO:0050919, GO:0050908, GO:0048843, GO:0048675, GO:0030335, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, detection of light stimulus involved in visual perception, negative regulation of axon extension involved in axon guidance, axon extension, positive regulation of cell migration, axon guidance, neural crest cell migration, 0 0 0 1 0 0 0 0 0 ENSG00000082701 chr3 119821323 120094417 - GSK3B protein_coding The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]. 2932 GO:1990909, GO:0098978, GO:0098978, GO:0098978, GO:0098978, GO:0098794, GO:0030877, GO:0030877, GO:0030877, GO:0030425, GO:0030424, GO:0030424, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, Wnt signalosome, glutamatergic synapse, glutamatergic synapse, glutamatergic synapse, glutamatergic synapse, postsynapse, beta-catenin destruction complex, beta-catenin destruction complex, beta-catenin destruction complex, dendrite, axon, axon, plasma membrane, cytosol, cytosol, centrosome, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0051059, GO:0050321, GO:0050321, GO:0050321, GO:0048156, GO:0034452, GO:0034236, GO:0031625, GO:0019901, GO:0016301, GO:0016301, GO:0008013, GO:0008013, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0004672, GO:0002039, GO:0002020, GO:0001085, protein threonine kinase activity, protein serine kinase activity, NF-kappaB binding, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, dynactin binding, protein kinase A catalytic subunit binding, ubiquitin protein ligase binding, protein kinase binding, kinase activity, kinase activity, beta-catenin binding, beta-catenin binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, p53 binding, protease binding, RNA polymerase II transcription factor binding, GO:2000466, GO:2000300, GO:2000300, GO:2000300, GO:2000077, GO:1904886, GO:1904885, GO:1904781, GO:1904646, GO:1904339, GO:1902042, GO:1901984, GO:1901216, GO:1901215, GO:1901030, GO:1900271, GO:1900181, GO:1900034, GO:0150101, GO:0106027, GO:0097192, GO:0097192, GO:0097191, GO:0090090, GO:0090090, GO:0090090, GO:0090090, GO:0071109, GO:0070885, GO:0070507, GO:0070507, GO:0060079, GO:0050770, GO:0048814, GO:0046827, GO:0046777, GO:0045732, GO:0045719, GO:0043547, GO:0043066, GO:0042752, GO:0036016, GO:0035556, GO:0035556, GO:0032886, GO:0032515, GO:0032436, GO:0032436, GO:0032436, GO:0032092, GO:0032091, GO:0031334, GO:0031333, GO:0031175, GO:0030516, GO:0030011, GO:0030011, GO:0030010, GO:0030010, GO:0021766, GO:0018107, GO:0018105, GO:0016055, GO:0010975, GO:0010822, GO:0010628, GO:0010508, GO:0008286, GO:0007623, GO:0007212, GO:0007165, GO:0006983, GO:0006468, GO:0006468, GO:0006468, GO:0005977, GO:0001954, GO:0001837, negative regulation of glycogen (starch) synthase activity, regulation of synaptic vesicle exocytosis, regulation of synaptic vesicle exocytosis, regulation of synaptic vesicle exocytosis, negative regulation of type B pancreatic cell development, beta-catenin destruction complex disassembly, beta-catenin destruction complex assembly, positive regulation of protein localization to centrosome, cellular response to amyloid-beta, negative regulation of dopaminergic neuron differentiation, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of protein acetylation, positive regulation of neuron death, negative regulation of neuron death, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, regulation of long-term synaptic potentiation, negative regulation of protein localization to nucleus, regulation of cellular response to heat, regulation of microtubule anchoring at centrosome, neuron projection organization, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, superior temporal gyrus development, negative regulation of calcineurin-NFAT signaling cascade, regulation of microtubule cytoskeleton organization, regulation of microtubule cytoskeleton organization, excitatory postsynaptic potential, regulation of axonogenesis, regulation of dendrite morphogenesis, positive regulation of protein export from nucleus, protein autophosphorylation, positive regulation of protein catabolic process, negative regulation of glycogen biosynthetic process, positive regulation of GTPase activity, negative regulation of apoptotic process, regulation of circadian rhythm, cellular response to interleukin-3, intracellular signal transduction, intracellular signal transduction, regulation of microtubule-based process, negative regulation of phosphoprotein phosphatase activity, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, negative regulation of protein binding, positive regulation of protein-containing complex assembly, negative regulation of protein-containing complex assembly, neuron projection development, regulation of axon extension, maintenance of cell polarity, maintenance of cell polarity, establishment of cell polarity, establishment of cell polarity, hippocampus development, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, regulation of neuron projection development, positive regulation of mitochondrion organization, positive regulation of gene expression, positive regulation of autophagy, insulin receptor signaling pathway, circadian rhythm, dopamine receptor signaling pathway, signal transduction, ER overload response, protein phosphorylation, protein phosphorylation, protein phosphorylation, glycogen metabolic process, positive regulation of cell-matrix adhesion, epithelial to mesenchymal transition, 1221 1249 1639 415 859 632 534 805 581 ENSG00000082781 chr3 124761948 124901418 - ITGB5 protein_coding This gene encodes a beta subunit of integrin, which can combine with different alpha chains to form a variety of integrin heterodimers. Integrins are integral cell-surface receptors that participate in cell adhesion as well as cell-surface mediated signaling. The alphav beta5 integrin is involved in adhesion to vitronectin. [provided by RefSeq, Aug 2017]. 3693 GO:0070062, GO:0045335, GO:0043235, GO:0034684, GO:0009986, GO:0009986, GO:0009986, GO:0008305, GO:0005925, GO:0005925, GO:0005886, extracellular exosome, phagocytic vesicle, receptor complex, integrin alphav-beta5 complex, cell surface, cell surface, cell surface, integrin complex, focal adhesion, focal adhesion, plasma membrane, GO:0038023, GO:0005515, GO:0005178, GO:0001618, signaling receptor activity, protein binding, integrin binding, virus receptor activity, GO:0090136, GO:0046718, GO:0043149, GO:0035987, GO:0033627, GO:0030198, GO:0016477, GO:0007229, GO:0007229, GO:0007179, GO:0007160, GO:0007160, GO:0006936, GO:0002479, epithelial cell-cell adhesion, viral entry into host cell, stress fiber assembly, endodermal cell differentiation, cell adhesion mediated by integrin, extracellular matrix organization, cell migration, integrin-mediated signaling pathway, integrin-mediated signaling pathway, transforming growth factor beta receptor signaling pathway, cell-matrix adhesion, cell-matrix adhesion, muscle contraction, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 1 2 3 2 4 10 1 0 1 ENSG00000082805 chr12 990509 1495933 + ERC1 protein_coding The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 23085 GO:0045202, GO:0042734, GO:0036064, GO:0008385, GO:0005813, GO:0005737, GO:0005737, GO:0000139, synapse, presynaptic membrane, ciliary basal body, IkappaB kinase complex, centrosome, cytoplasm, cytoplasm, Golgi membrane, GO:0045296, GO:0043522, GO:0031267, GO:0030165, GO:0005515, cadherin binding, leucine zipper domain binding, small GTPase binding, PDZ domain binding, protein binding, GO:0051092, GO:0043066, GO:0042147, GO:0015031, GO:0007275, GO:0007252, GO:0006355, positive regulation of NF-kappaB transcription factor activity, negative regulation of apoptotic process, retrograde transport, endosome to Golgi, protein transport, multicellular organism development, I-kappaB phosphorylation, regulation of transcription, DNA-templated, 82 85 115 101 52 74 94 66 70 ENSG00000082898 chr2 61477849 61538626 - XPO1 protein_coding This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]. 7514 GO:1990904, GO:0043657, GO:0043231, GO:0032991, GO:0031965, GO:0016020, GO:0015030, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005642, GO:0005635, GO:0005634, GO:0000776, ribonucleoprotein complex, host cell, intracellular membrane-bounded organelle, protein-containing complex, nuclear membrane, membrane, Cajal body, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, annulate lamellae, nuclear envelope, nucleus, kinetochore, GO:0031267, GO:0019904, GO:0005515, GO:0005049, GO:0005049, GO:0005049, GO:0003723, small GTPase binding, protein domain specific binding, protein binding, nuclear export signal receptor activity, nuclear export signal receptor activity, nuclear export signal receptor activity, RNA binding, GO:0075733, GO:0051028, GO:0046825, GO:0043488, GO:0042493, GO:0042254, GO:0034504, GO:0032434, GO:0016032, GO:0010824, GO:0006913, GO:0006611, GO:0006611, GO:0006611, GO:0006611, GO:0000122, GO:0000056, GO:0000056, GO:0000055, GO:0000055, GO:0000054, intracellular transport of virus, mRNA transport, regulation of protein export from nucleus, regulation of mRNA stability, response to drug, ribosome biogenesis, protein localization to nucleus, regulation of proteasomal ubiquitin-dependent protein catabolic process, viral process, regulation of centrosome duplication, nucleocytoplasmic transport, protein export from nucleus, protein export from nucleus, protein export from nucleus, protein export from nucleus, negative regulation of transcription by RNA polymerase II, ribosomal small subunit export from nucleus, ribosomal small subunit export from nucleus, ribosomal large subunit export from nucleus, ribosomal large subunit export from nucleus, ribosomal subunit export from nucleus, 702 628 974 626 762 1015 732 513 801 ENSG00000082929 chr4 5524569 5527801 + LINC01587 processed_transcript This gene is expressed in neuroblastoma; however, the function of this gene is not yet determined. [provided by RefSeq, Jul 2008]. 10141 GO:0007399, nervous system development, 0 0 0 0 0 0 0 0 0 ENSG00000082996 chr3 149812708 149962139 + RNF13 protein_coding The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]. 11342 GO:0043231, GO:0031902, GO:0016021, GO:0005829, GO:0005789, GO:0005783, GO:0005765, GO:0005765, GO:0005765, GO:0005654, GO:0005637, GO:0000139, intracellular membrane-bounded organelle, late endosome membrane, integral component of membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, lysosomal membrane, lysosomal membrane, lysosomal membrane, nucleoplasm, nuclear inner membrane, Golgi membrane, GO:0061630, GO:0046872, GO:0008432, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, JUN kinase binding, protein binding, ubiquitin-protein transferase activity, GO:0070304, GO:0051865, GO:0006511, positive regulation of stress-activated protein kinase signaling cascade, protein autoubiquitination, ubiquitin-dependent protein catabolic process, 2950 3100 3342 962 2231 1512 1253 1982 1406 ENSG00000083067 chr9 70529063 71446904 - TRPM3 protein_coding The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 80036 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005262, GO:0005261, GO:0005261, GO:0005227, calcium channel activity, cation channel activity, cation channel activity, calcium activated cation channel activity, GO:0098655, GO:0070838, GO:0070588, GO:0051262, GO:0050951, GO:0016048, GO:0006812, cation transmembrane transport, divalent metal ion transport, calcium ion transmembrane transport, protein tetramerization, sensory perception of temperature stimulus, detection of temperature stimulus, cation transport, 0 0 0 3 0 0 0 0 0 ENSG00000083093 chr16 23603160 23641310 - PALB2 protein_coding This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]. 79728 GO:0005654, GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, nucleoplasm, GO:0005515, GO:0003677, GO:0003677, protein binding, DNA binding, DNA binding, GO:0048568, GO:0043066, GO:0036342, GO:0035264, GO:0009887, GO:0007498, GO:0001833, GO:0001756, GO:0000724, GO:0000724, GO:0000724, embryonic organ development, negative regulation of apoptotic process, post-anal tail morphogenesis, multicellular organism growth, animal organ morphogenesis, mesoderm development, inner cell mass cell proliferation, somitogenesis, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 5 5 19 21 3 22 23 3 8 ENSG00000083097 chr6 83067666 83171350 + DOP1A protein_coding 23033 GO:0005829, GO:0005802, GO:0005768, GO:0000139, cytosol, trans-Golgi network, endosome, Golgi membrane, GO:0015031, GO:0006895, protein transport, Golgi to endosome transport, 159 85 190 157 81 189 175 72 149 ENSG00000083099 chr6 89568144 89638753 - LYRM2 protein_coding 57226 GO:0005515, protein binding, 89 103 116 172 176 219 134 170 112 ENSG00000083123 chr6 80106647 80346270 + BCKDHB protein_coding This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 594 GO:0005947, GO:0005947, GO:0005759, GO:0005739, GO:0005739, GO:0005730, mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial matrix, mitochondrion, mitochondrion, nucleolus, GO:0005515, GO:0003863, GO:0003826, protein binding, 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity, alpha-ketoacid dehydrogenase activity, GO:0055114, GO:0009083, GO:0009083, GO:0009083, GO:0007584, oxidation-reduction process, branched-chain amino acid catabolic process, branched-chain amino acid catabolic process, branched-chain amino acid catabolic process, response to nutrient, 9 12 11 30 6 18 11 9 24 ENSG00000083168 chr8 41929479 42052026 - KAT6A protein_coding This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. 7994 GO:0070776, GO:0070776, GO:0016607, GO:0016605, GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0000786, GO:0000785, MOZ/MORF histone acetyltransferase complex, MOZ/MORF histone acetyltransferase complex, nuclear speck, PML body, cytosol, nucleolus, nucleoplasm, nucleus, nucleosome, chromatin, GO:0042393, GO:0016407, GO:0016407, GO:0008270, GO:0008134, GO:0005515, GO:0004402, GO:0004402, GO:0003713, GO:0003712, GO:0003677, histone binding, acetyltransferase activity, acetyltransferase activity, zinc ion binding, transcription factor binding, protein binding, histone acetyltransferase activity, histone acetyltransferase activity, transcription coactivator activity, transcription coregulator activity, DNA binding, GO:1901796, GO:0090398, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0043966, GO:0043966, GO:0030099, GO:0016573, GO:0006473, GO:0006334, GO:0006323, regulation of signal transduction by p53 class mediator, cellular senescence, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, histone H3 acetylation, histone H3 acetylation, myeloid cell differentiation, histone acetylation, protein acetylation, nucleosome assembly, DNA packaging, 3642 3602 3831 2231 2649 2726 2328 1782 2104 ENSG00000083223 chr9 86287733 86354454 - TUT7 protein_coding 79670 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0070569, GO:0050265, GO:0050265, GO:0035198, GO:0016779, GO:0008270, GO:0005515, GO:0004652, GO:0003723, uridylyltransferase activity, RNA uridylyltransferase activity, RNA uridylyltransferase activity, miRNA binding, nucleotidyltransferase activity, zinc ion binding, protein binding, polynucleotide adenylyltransferase activity, RNA binding, GO:1990074, GO:0071076, GO:0071076, GO:0071076, GO:0071044, GO:0031123, GO:0031054, GO:0031054, GO:0010586, GO:0010526, GO:0006397, GO:0006378, GO:0001556, GO:0000289, polyuridylation-dependent mRNA catabolic process, RNA 3' uridylation, RNA 3' uridylation, RNA 3' uridylation, histone mRNA catabolic process, RNA 3'-end processing, pre-miRNA processing, pre-miRNA processing, miRNA metabolic process, negative regulation of transposition, RNA-mediated, mRNA processing, mRNA polyadenylation, oocyte maturation, nuclear-transcribed mRNA poly(A) tail shortening, 5290 4895 6408 2615 3589 3363 3123 2891 2867 ENSG00000083290 chr17 19770829 19867936 - ULK2 protein_coding This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]. 9706 GO:0034045, GO:0030659, phagophore assembly site membrane, cytoplasmic vesicle membrane, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0075044, GO:0048675, GO:0048671, GO:0046777, GO:0042594, GO:0007165, GO:0006914, positive regulation by symbiont of host autophagy, axon extension, negative regulation of collateral sprouting, protein autophosphorylation, response to starvation, signal transduction, autophagy, 12 17 28 34 11 33 26 14 32 ENSG00000083307 chr8 101492432 101669726 + GRHL2 protein_coding The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]. 79977 GO:0016020, GO:0005911, GO:0005654, GO:0005634, GO:0005634, GO:0000785, membrane, cell-cell junction, nucleoplasm, nucleus, nucleus, chromatin, GO:0043565, GO:0031490, GO:0005515, GO:0003700, GO:0001228, GO:0001228, GO:0001228, GO:0001161, GO:0000981, GO:0000978, sequence-specific DNA binding, chromatin DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, intronic transcription regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090132, GO:0070830, GO:0060672, GO:0060487, GO:0060463, GO:0060324, GO:0051973, GO:0048701, GO:0045944, GO:0045944, GO:0045944, GO:0045617, GO:0044030, GO:0044030, GO:0043010, GO:0042733, GO:0035264, GO:0034329, GO:0021915, GO:0008544, GO:0008283, GO:0007420, GO:0007155, GO:0006357, GO:0003382, GO:0003382, GO:0003208, GO:0001843, epithelium migration, bicellular tight junction assembly, epithelial cell morphogenesis involved in placental branching, lung epithelial cell differentiation, lung lobe morphogenesis, face development, positive regulation of telomerase activity, embryonic cranial skeleton morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of keratinocyte differentiation, regulation of DNA methylation, regulation of DNA methylation, camera-type eye development, embryonic digit morphogenesis, multicellular organism growth, cell junction assembly, neural tube development, epidermis development, cell population proliferation, brain development, cell adhesion, regulation of transcription by RNA polymerase II, epithelial cell morphogenesis, epithelial cell morphogenesis, cardiac ventricle morphogenesis, neural tube closure, 0 0 0 0 0 0 0 0 0 ENSG00000083312 chr5 72816312 72916733 + TNPO1 protein_coding This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in several transcript variants encoding different proteins. [provided by RefSeq, Jun 2018]. 3842 GO:0070062, GO:0005929, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, cilium, cytosol, cytoplasm, nucleus, GO:0061608, GO:0031267, GO:0008139, GO:0005515, GO:0003723, nuclear import signal receptor activity, small GTPase binding, nuclear localization sequence binding, protein binding, RNA binding, GO:0043488, GO:0035735, GO:0016032, GO:0006606, GO:0006606, regulation of mRNA stability, intraciliary transport involved in cilium assembly, viral process, protein import into nucleus, protein import into nucleus, 1141 953 1346 721 758 1095 845 570 821 ENSG00000083444 chr1 11934205 11975538 + PLOD1 protein_coding Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5351 GO:1902494, GO:0070062, GO:0030867, GO:0005789, GO:0005783, catalytic complex, extracellular exosome, rough endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0033823, GO:0031418, GO:0008475, GO:0008475, GO:0008475, GO:0008475, GO:0005515, GO:0005506, procollagen glucosyltransferase activity, L-ascorbic acid binding, procollagen-lysine 5-dioxygenase activity, procollagen-lysine 5-dioxygenase activity, procollagen-lysine 5-dioxygenase activity, procollagen-lysine 5-dioxygenase activity, protein binding, iron ion binding, GO:0055114, GO:0017185, GO:0017185, GO:0017185, GO:0008544, GO:0006493, GO:0001666, oxidation-reduction process, peptidyl-lysine hydroxylation, peptidyl-lysine hydroxylation, peptidyl-lysine hydroxylation, epidermis development, protein O-linked glycosylation, response to hypoxia, 240 488 536 125 396 265 162 335 236 ENSG00000083454 chr17 3672199 3696404 - P2RX5 protein_coding The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]. 5026 GO:0098794, GO:0005887, GO:0005886, GO:0005829, GO:0005639, postsynapse, integral component of plasma membrane, plasma membrane, cytosol, integral component of nuclear inner membrane, GO:0005524, GO:0005216, GO:0004931, GO:0004931, GO:0004888, GO:0001614, ATP binding, ion channel activity, extracellularly ATP-gated cation channel activity, extracellularly ATP-gated cation channel activity, transmembrane signaling receptor activity, purinergic nucleotide receptor activity, GO:0098655, GO:0060079, GO:0050850, GO:0035590, GO:0033198, GO:0010524, GO:0007596, GO:0007399, GO:0007165, cation transmembrane transport, excitatory postsynaptic potential, positive regulation of calcium-mediated signaling, purinergic nucleotide receptor signaling pathway, response to ATP, positive regulation of calcium ion transport into cytosol, blood coagulation, nervous system development, signal transduction, 4 16 10 28 19 28 10 12 12 ENSG00000083457 chr17 3714628 3801243 - ITGAE protein_coding Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]. 3682 GO:0009897, GO:0008305, GO:0005886, external side of plasma membrane, integrin complex, plasma membrane, GO:0046872, metal ion binding, GO:0030198, GO:0007229, GO:0007155, extracellular matrix organization, integrin-mediated signaling pathway, cell adhesion, 24 27 30 37 33 31 26 23 22 ENSG00000083520 chr13 72752169 72782096 - DIS3 protein_coding 22894 GO:0016020, GO:0005829, GO:0005829, GO:0005730, GO:0005654, GO:0000178, GO:0000178, GO:0000177, GO:0000176, GO:0000176, membrane, cytosol, cytosol, nucleolus, nucleoplasm, exosome (RNase complex), exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), nuclear exosome (RNase complex), GO:0005515, GO:0005085, GO:0004519, GO:0004519, GO:0003723, GO:0000175, GO:0000175, GO:0000175, protein binding, guanyl-nucleotide exchange factor activity, endonuclease activity, endonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:0090503, GO:0071034, GO:0043928, GO:0043488, GO:0016075, GO:0016075, GO:0006364, RNA phosphodiester bond hydrolysis, exonucleolytic, CUT catabolic process, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, rRNA catabolic process, rRNA catabolic process, rRNA processing, 315 271 403 252 227 356 260 146 267 ENSG00000083535 chr13 72782059 73016461 + PIBF1 protein_coding This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to promote normal pregnancy including cytokine synthesis, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017]. 10464 GO:0034451, GO:0005813, GO:0005737, GO:0005634, GO:0005615, centriolar satellite, centrosome, cytoplasm, nucleus, extracellular space, GO:0005515, GO:0005136, protein binding, interleukin-4 receptor binding, GO:1905515, GO:0090307, GO:0071539, GO:0060271, GO:0042976, GO:0042532, GO:0042531, GO:0032815, GO:0032733, GO:0032695, GO:0031393, GO:0007080, GO:0002376, non-motile cilium assembly, mitotic spindle assembly, protein localization to centrosome, cilium assembly, activation of Janus kinase activity, negative regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, negative regulation of natural killer cell activation, positive regulation of interleukin-10 production, negative regulation of interleukin-12 production, negative regulation of prostaglandin biosynthetic process, mitotic metaphase plate congression, immune system process, 48 71 75 86 49 95 90 57 120 ENSG00000083544 chr13 60396457 60573878 + TDRD3 protein_coding 81550 GO:0035145, GO:0005829, GO:0005794, GO:0005654, GO:0005634, GO:0005634, exon-exon junction complex, cytosol, Golgi apparatus, nucleoplasm, nucleus, nucleus, GO:0035064, GO:0005515, GO:0003723, GO:0003713, GO:0003682, methylated histone binding, protein binding, RNA binding, transcription coactivator activity, chromatin binding, GO:1903508, GO:0006325, positive regulation of nucleic acid-templated transcription, chromatin organization, 7 17 24 42 22 37 32 21 54 ENSG00000083622 chr7 117604791 117647415 - AC000061.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000083635 chr13 44939249 44989483 - NUFIP1 protein_coding This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]. 26747 GO:0070761, GO:0048786, GO:0032991, GO:0022626, GO:0016363, GO:0008023, GO:0005730, GO:0005726, GO:0005654, GO:0005634, GO:0001650, pre-snoRNP complex, presynaptic active zone, protein-containing complex, cytosolic ribosome, nuclear matrix, transcription elongation factor complex, nucleolus, perichromatin fibrils, nucleoplasm, nucleus, fibrillar center, GO:0051117, GO:0046872, GO:0042802, GO:0030674, GO:0030515, GO:0005515, GO:0003723, GO:0003677, ATPase binding, metal ion binding, identical protein binding, protein-macromolecule adaptor activity, snoRNA binding, protein binding, RNA binding, DNA binding, GO:0045944, GO:0006396, GO:0000492, GO:0000492, positive regulation of transcription by RNA polymerase II, RNA processing, box C/D snoRNP assembly, box C/D snoRNP assembly, 45 24 15 234 110 151 144 99 64 ENSG00000083642 chr13 32586427 32778019 + PDS5B protein_coding This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]. 23047 GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000775, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromosome, centromeric region, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0051301, GO:0042127, GO:0008285, GO:0008283, GO:0007064, GO:0007064, GO:0006281, cell division, regulation of cell population proliferation, negative regulation of cell population proliferation, cell population proliferation, mitotic sister chromatid cohesion, mitotic sister chromatid cohesion, DNA repair, 624 589 842 359 414 409 405 298 355 ENSG00000083720 chr5 41730065 41870519 - OXCT1 protein_coding This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]. 5019 GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, nucleoplasm, GO:0042802, GO:0008410, GO:0008260, GO:0008260, identical protein binding, CoA-transferase activity, 3-oxoacid CoA-transferase activity, 3-oxoacid CoA-transferase activity, GO:0060612, GO:0046952, GO:0046950, GO:0046950, GO:0045471, GO:0042594, GO:0042493, GO:0042182, GO:0035774, GO:0014823, GO:0009725, GO:0007584, GO:0007507, GO:0007420, adipose tissue development, ketone body catabolic process, cellular ketone body metabolic process, cellular ketone body metabolic process, response to ethanol, response to starvation, response to drug, ketone catabolic process, positive regulation of insulin secretion involved in cellular response to glucose stimulus, response to activity, response to hormone, response to nutrient, heart development, brain development, 24 9 74 106 17 77 69 28 75 ENSG00000083750 chrX 55717739 55758774 + RRAGB protein_coding Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 10325 GO:1990131, GO:0034448, GO:0005829, GO:0005765, GO:0005764, GO:0005764, GO:0005737, GO:0005634, Gtr1-Gtr2 GTPase complex, EGO complex, cytosol, lysosomal membrane, lysosome, lysosome, cytoplasm, nucleus, GO:0051020, GO:0032561, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GTPase binding, guanyl ribonucleotide binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1990253, GO:1904263, GO:0071230, GO:0071230, GO:0034613, GO:0034198, GO:0032008, GO:0032008, GO:0032006, GO:0016241, GO:0010506, GO:0009267, GO:0007050, cellular response to leucine starvation, positive regulation of TORC1 signaling, cellular response to amino acid stimulus, cellular response to amino acid stimulus, cellular protein localization, cellular response to amino acid starvation, positive regulation of TOR signaling, positive regulation of TOR signaling, regulation of TOR signaling, regulation of macroautophagy, regulation of autophagy, cellular response to starvation, cell cycle arrest, 12 28 23 33 31 50 27 28 24 ENSG00000083782 chr12 90963679 91005026 - EPYC protein_coding Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]. 1833 GO:0005576, extracellular region, GO:0005539, glycosaminoglycan binding, GO:0007565, female pregnancy, 0 0 0 0 0 0 0 0 0 ENSG00000083799 chr16 50742050 50801935 + CYLD protein_coding This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 1540 GO:0097542, GO:0048471, GO:0036064, GO:0031234, GO:0030496, GO:0005881, GO:0005829, GO:0005829, GO:0005829, GO:0005819, GO:0005813, ciliary tip, perinuclear region of cytoplasm, ciliary basal body, extrinsic component of cytoplasmic side of plasma membrane, midbody, cytoplasmic microtubule, cytosol, cytosol, cytosol, spindle, centrosome, GO:1990380, GO:0070064, GO:0061578, GO:0061578, GO:0061578, GO:0019901, GO:0008270, GO:0008234, GO:0005515, GO:0004843, GO:0004843, Lys48-specific deubiquitinase activity, proline-rich region binding, Lys63-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, protein kinase binding, zinc ion binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:2001242, GO:2001242, GO:2001238, GO:2001238, GO:1990108, GO:1903829, GO:1903753, GO:1902017, GO:1901223, GO:1901026, GO:0090090, GO:0071108, GO:0070536, GO:0070536, GO:0070507, GO:0070423, GO:0070266, GO:0060544, GO:0050862, GO:0050727, GO:0048872, GO:0046329, GO:0045582, GO:0045577, GO:0045087, GO:0043393, GO:0043369, GO:0032480, GO:0032088, GO:0032088, GO:0016579, GO:0016579, GO:0016055, GO:0010803, GO:0010803, GO:0007346, GO:0007346, GO:0007049, GO:0006511, regulation of intrinsic apoptotic signaling pathway, regulation of intrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, protein linear deubiquitination, positive regulation of cellular protein localization, negative regulation of p38MAPK cascade, regulation of cilium assembly, negative regulation of NIK/NF-kappaB signaling, ripoptosome assembly involved in necroptotic process, negative regulation of canonical Wnt signaling pathway, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein K63-linked deubiquitination, regulation of microtubule cytoskeleton organization, nucleotide-binding oligomerization domain containing signaling pathway, necroptotic process, regulation of necroptotic process, positive regulation of T cell receptor signaling pathway, regulation of inflammatory response, homeostasis of number of cells, negative regulation of JNK cascade, positive regulation of T cell differentiation, regulation of B cell differentiation, innate immune response, regulation of protein binding, CD4-positive or CD8-positive, alpha-beta T cell lineage commitment, negative regulation of type I interferon production, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, protein deubiquitination, protein deubiquitination, Wnt signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, regulation of mitotic cell cycle, regulation of mitotic cell cycle, cell cycle, ubiquitin-dependent protein catabolic process, 4168 4026 6665 2727 3003 4767 3122 2228 3176 ENSG00000083807 chr19 58479512 58512413 - SLC27A5 protein_coding The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]. 10998 GO:0032991, GO:0030176, GO:0030176, GO:0009925, GO:0005789, GO:0005783, GO:0005783, protein-containing complex, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, basal plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0047747, GO:0044877, GO:0031957, GO:0016491, GO:0015245, GO:0005524, GO:0005515, GO:0005324, GO:0005324, GO:0004467, GO:0004467, cholate-CoA ligase activity, protein-containing complex binding, very long-chain fatty acid-CoA ligase activity, oxidoreductase activity, fatty acid transmembrane transporter activity, ATP binding, protein binding, long-chain fatty acid transporter activity, long-chain fatty acid transporter activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, GO:0055114, GO:0046951, GO:0015911, GO:0015721, GO:0006699, GO:0006699, GO:0006699, GO:0006642, GO:0001676, GO:0000038, GO:0000038, oxidation-reduction process, ketone body biosynthetic process, long-chain fatty acid import across plasma membrane, bile acid and bile salt transport, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, triglyceride mobilization, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 30 30 33 53 87 51 86 71 41 ENSG00000083812 chr19 58467045 58475436 + ZNF324 protein_coding 25799 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0046872, GO:0003674, GO:0000981, GO:0000978, metal ion binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008283, GO:0006357, GO:0000082, cell population proliferation, regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 178 180 145 252 241 198 158 149 155 ENSG00000083814 chr19 57719751 57727624 - ZNF671 protein_coding 79891 GO:0000785, chromatin, GO:0046872, GO:0003700, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 35 50 53 64 28 46 61 18 36 ENSG00000083817 chr19 57571566 57578927 - ZNF416 protein_coding 55659 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 4 7 5 7 2 3 2 2 ENSG00000083828 chr19 57769655 57819939 + ZNF586 protein_coding 54807 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 429 408 503 203 371 329 307 303 356 ENSG00000083838 chr19 58474017 58481230 + ZNF446 protein_coding 55663 GO:0005615, GO:0000785, GO:0000785, extracellular space, chromatin, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 68 77 69 76 172 73 120 115 67 ENSG00000083844 chr19 57191500 57222846 + ZNF264 protein_coding This gene encodes a zinc finger protein and belongs to the krueppel C2H2-type zinc-finger protein family. Zinc finger proteins are often localized in the nucleus, bind nucleic acids, and regulate transcription. [provided by RefSeq, Jan 2010]. 9422 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 235 242 193 204 240 162 225 160 128 ENSG00000083845 chr19 58386400 58394806 + RPS5 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6193 GO:1990904, GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005925, GO:0005840, GO:0005829, GO:0005654, ribonucleoprotein complex, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, focal adhesion, ribosome, cytosol, nucleoplasm, GO:0019843, GO:0005515, GO:0003735, GO:0003735, GO:0003729, GO:0003729, GO:0003723, GO:0003723, rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, mRNA binding, mRNA binding, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006450, GO:0006413, GO:0006413, GO:0006412, GO:0006412, GO:0006412, GO:0006412, GO:0000184, GO:0000028, viral transcription, SRP-dependent cotranslational protein targeting to membrane, regulation of translational fidelity, translational initiation, translational initiation, translation, translation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal small subunit assembly, 483 374 697 1402 649 1457 989 522 944 ENSG00000083857 chr4 186587783 186726722 - FAT1 protein_coding This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]. 2195 GO:0070062, GO:0048471, GO:0030175, GO:0030027, GO:0016324, GO:0005925, GO:0005911, GO:0005887, GO:0005886, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, filopodium, lamellipodium, apical plasma membrane, focal adhesion, cell-cell junction, integral component of plasma membrane, plasma membrane, nucleus, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0098609, GO:0098609, GO:0016477, GO:0009653, GO:0007267, GO:0007163, GO:0007156, GO:0007155, GO:0007015, GO:0003412, GO:0003382, GO:0002088, cell-cell adhesion, cell-cell adhesion, cell migration, anatomical structure morphogenesis, cell-cell signaling, establishment or maintenance of cell polarity, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, actin filament organization, establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis, epithelial cell morphogenesis, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000083896 chr4 68310387 68350089 - YTHDC1 protein_coding 91746 GO:0016607, GO:0005886, GO:0005654, GO:0005654, GO:0005634, nuclear speck, plasma membrane, nucleoplasm, nucleoplasm, nucleus, GO:1990247, GO:1990247, GO:0005515, GO:0003729, GO:0003723, GO:0003723, N6-methyladenosine-containing RNA binding, N6-methyladenosine-containing RNA binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:0048024, GO:0048024, GO:0010608, GO:0009048, GO:0006406, GO:0006376, GO:0000398, GO:0000381, regulation of mRNA splicing, via spliceosome, regulation of mRNA splicing, via spliceosome, posttranscriptional regulation of gene expression, dosage compensation by inactivation of X chromosome, mRNA export from nucleus, mRNA splice site selection, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 87 163 174 113 250 501 175 246 388 ENSG00000083937 chr3 87227271 87255548 + CHMP2B protein_coding This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008]. 25978 GO:0098978, GO:0070062, GO:0031902, GO:0005886, GO:0005829, GO:0005829, GO:0005771, GO:0005770, GO:0005768, GO:0005764, GO:0005737, GO:0000815, GO:0000815, GO:0000815, glutamatergic synapse, extracellular exosome, late endosome membrane, plasma membrane, cytosol, cytosol, multivesicular body, late endosome, endosome, lysosome, cytoplasm, ESCRT III complex, ESCRT III complex, ESCRT III complex, GO:0045296, GO:0019904, GO:0005515, cadherin binding, protein domain specific binding, protein binding, GO:1904903, GO:1902188, GO:1902188, GO:1901673, GO:0099159, GO:0070050, GO:0061952, GO:0061763, GO:0050890, GO:0045324, GO:0039702, GO:0039702, GO:0039702, GO:0039702, GO:0036258, GO:0032509, GO:0019058, GO:0016236, GO:0016197, GO:0015031, GO:0010824, GO:0007080, GO:0007032, GO:0006997, GO:0006914, ESCRT III complex disassembly, positive regulation of viral release from host cell, positive regulation of viral release from host cell, regulation of mitotic spindle assembly, regulation of modification of postsynaptic structure, neuron cellular homeostasis, midbody abscission, multivesicular body-lysosome fusion, cognition, late endosome to vacuole transport, viral budding via host ESCRT complex, viral budding via host ESCRT complex, viral budding via host ESCRT complex, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, protein transport, regulation of centrosome duplication, mitotic metaphase plate congression, endosome organization, nucleus organization, autophagy, 1219 1146 1461 2604 2962 3502 2694 2158 2257 ENSG00000084070 chr1 40344850 40423326 + SMAP2 protein_coding 64744 GO:0005737, cytoplasm, GO:0046872, GO:0005515, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 11521 13420 12213 5181 11668 7265 6384 9792 6648 ENSG00000084072 chr1 39692182 39763914 + PPIE protein_coding The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010]. 10450 GO:1904813, GO:0071013, GO:0071007, GO:0034774, GO:0016607, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, secretory granule lumen, nuclear speck, cytosol, cytoplasm, nucleoplasm, nucleus, extracellular region, GO:0016018, GO:0016018, GO:0008143, GO:0005515, GO:0003755, GO:0003755, GO:0003755, GO:0003729, GO:0003723, GO:0003723, cyclosporin A binding, cyclosporin A binding, poly(A) binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, mRNA binding, RNA binding, RNA binding, GO:0045070, GO:0043312, GO:0006457, GO:0006355, GO:0006283, GO:0000413, GO:0000413, GO:0000398, GO:0000398, GO:0000398, positive regulation of viral genome replication, neutrophil degranulation, protein folding, regulation of transcription, DNA-templated, transcription-coupled nucleotide-excision repair, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 18 40 41 78 27 37 52 28 31 ENSG00000084073 chr1 40258107 40294184 + ZMPSTE24 protein_coding This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]. 10269 GO:0070062, GO:0032991, GO:0030176, GO:0016020, GO:0005637, extracellular exosome, protein-containing complex, integral component of endoplasmic reticulum membrane, membrane, nuclear inner membrane, GO:0046872, GO:0008235, GO:0005515, GO:0004222, GO:0003690, metal ion binding, metalloexopeptidase activity, protein binding, metalloendopeptidase activity, double-stranded DNA binding, GO:2000772, GO:2000730, GO:2000618, GO:1990164, GO:1990036, GO:1903799, GO:1903463, GO:1903025, GO:0072423, GO:0071586, GO:0071480, GO:0070302, GO:0061762, GO:0061337, GO:0060993, GO:0060307, GO:0050905, GO:0050688, GO:0048739, GO:0048538, GO:0048145, GO:0044255, GO:0044029, GO:0043979, GO:0043516, GO:0043007, GO:0040014, GO:0035264, GO:0032350, GO:0032006, GO:0030500, GO:0030327, GO:0030282, GO:0019216, GO:0010906, GO:0010506, GO:0008360, GO:0008340, GO:0007628, GO:0006998, GO:0006925, GO:0006508, GO:0006281, GO:0003417, GO:0003231, GO:0003229, GO:0003007, GO:0001942, GO:0001889, regulation of cellular senescence, regulation of termination of RNA polymerase I transcription, regulation of histone H4-K16 acetylation, histone H2A phosphorylation, calcium ion import into sarcoplasmic reticulum, negative regulation of production of miRNAs involved in gene silencing by miRNA, regulation of mitotic cell cycle DNA replication, regulation of RNA polymerase II regulatory region sequence-specific DNA binding, response to DNA damage checkpoint signaling, CAAX-box protein processing, cellular response to gamma radiation, regulation of stress-activated protein kinase signaling cascade, CAMKK-AMPK signaling cascade, cardiac conduction, kidney morphogenesis, regulation of ventricular cardiac muscle cell membrane repolarization, neuromuscular process, regulation of defense response to virus, cardiac muscle fiber development, thymus development, regulation of fibroblast proliferation, cellular lipid metabolic process, hypomethylation of CpG island, histone H2B-K5 acetylation, regulation of DNA damage response, signal transduction by p53 class mediator, maintenance of rDNA, regulation of multicellular organism growth, multicellular organism growth, regulation of hormone metabolic process, regulation of TOR signaling, regulation of bone mineralization, prenylated protein catabolic process, bone mineralization, regulation of lipid metabolic process, regulation of glucose metabolic process, regulation of autophagy, regulation of cell shape, determination of adult lifespan, adult walking behavior, nuclear envelope organization, inflammatory cell apoptotic process, proteolysis, DNA repair, growth plate cartilage development, cardiac ventricle development, ventricular cardiac muscle tissue development, heart morphogenesis, hair follicle development, liver development, 398 468 456 133 335 259 176 273 133 ENSG00000084090 chr2 96184859 96208825 - STARD7 protein_coding 56910 GO:0005741, GO:0005576, mitochondrial outer membrane, extracellular region, GO:0008289, GO:0005515, lipid binding, protein binding, GO:0120197, GO:0061436, GO:0035745, GO:0006954, GO:0006656, GO:0001773, mucociliary clearance, establishment of skin barrier, T-helper 2 cell cytokine production, inflammatory response, phosphatidylcholine biosynthetic process, myeloid dendritic cell activation, 200 186 260 226 154 230 154 143 198 ENSG00000084092 chr4 56963370 56978823 - NOA1 protein_coding The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015]. 84273 GO:0031314, GO:0005739, extrinsic component of mitochondrial inner membrane, mitochondrion, GO:0005525, GO:0005515, GO:0003723, GTP binding, protein binding, RNA binding, GO:0043457, GO:0032543, GO:0010941, GO:0006915, regulation of cellular respiration, mitochondrial translation, regulation of cell death, apoptotic process, 42 35 61 50 37 83 60 33 42 ENSG00000084093 chr4 56907876 56966678 + REST protein_coding This gene was initially identified as a transcriptional repressor that represses neuronal genes in non-neuronal tissues. However, depending on the cellular context, this gene can act as either an oncogene or a tumor suppressor. The encoded protein is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regulator of neurogenesis. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2018]. 5978 GO:0017053, GO:0017053, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, transcription repressor complex, transcription repressor complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, nucleus, GO:0046872, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0001227, GO:0001227, GO:0000978, GO:0000976, GO:0000976, metal ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000798, GO:2000740, GO:2000706, GO:2000065, GO:1903223, GO:1903204, GO:1903203, GO:1902459, GO:0099563, GO:0097150, GO:0071385, GO:0071257, GO:0070933, GO:0060379, GO:0050768, GO:0046676, GO:0045955, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0045892, GO:0045892, GO:0045667, GO:0045666, GO:0045665, GO:0045665, GO:0045665, GO:0043922, GO:0043280, GO:0043065, GO:0035690, GO:0035019, GO:0032348, GO:0010629, GO:0010468, GO:0008285, GO:0006355, GO:0002931, GO:0001666, GO:0000381, GO:0000122, GO:0000122, negative regulation of amniotic stem cell differentiation, negative regulation of mesenchymal stem cell differentiation, negative regulation of dense core granule biogenesis, negative regulation of cortisol biosynthetic process, positive regulation of oxidative stress-induced neuron death, negative regulation of oxidative stress-induced neuron death, regulation of oxidative stress-induced neuron death, positive regulation of stem cell population maintenance, modification of synaptic structure, neuronal stem cell population maintenance, cellular response to glucocorticoid stimulus, cellular response to electrical stimulus, histone H4 deacetylation, cardiac muscle cell myoblast differentiation, negative regulation of neurogenesis, negative regulation of insulin secretion, negative regulation of calcium ion-dependent exocytosis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of osteoblast differentiation, positive regulation of neuron differentiation, negative regulation of neuron differentiation, negative regulation of neuron differentiation, negative regulation of neuron differentiation, negative regulation by host of viral transcription, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, cellular response to drug, somatic stem cell population maintenance, negative regulation of aldosterone biosynthetic process, negative regulation of gene expression, regulation of gene expression, negative regulation of cell population proliferation, regulation of transcription, DNA-templated, response to ischemia, response to hypoxia, regulation of alternative mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 593 627 836 260 391 482 370 298 455 ENSG00000084110 chr12 95972662 95996365 - HAL protein_coding Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 3034 GO:0005829, cytosol, GO:0016841, GO:0004397, GO:0004397, ammonia-lyase activity, histidine ammonia-lyase activity, histidine ammonia-lyase activity, GO:0019557, GO:0019556, GO:0006548, GO:0006548, histidine catabolic process to glutamate and formate, histidine catabolic process to glutamate and formamide, histidine catabolic process, histidine catabolic process, 2060 3018 2406 1511 3761 2240 1794 2733 2087 ENSG00000084112 chr12 108778192 108857590 - SSH1 protein_coding The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 54434 GO:0045202, GO:0032154, GO:0030496, GO:0030426, GO:0030027, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005737, synapse, cleavage furrow, midbody, growth cone, lamellipodium, plasma membrane, cytoskeleton, cytosol, cytoplasm, cytoplasm, GO:0106307, GO:0106306, GO:0008138, GO:0005515, GO:0004725, GO:0004721, GO:0004721, GO:0004721, GO:0003779, GO:0003779, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, phosphoprotein phosphatase activity, phosphoprotein phosphatase activity, actin binding, actin binding, GO:2000463, GO:1904754, GO:1904719, GO:1901216, GO:0098976, GO:0071318, GO:0035335, GO:0032268, GO:0031915, GO:0030837, GO:0030036, GO:0030036, GO:0006470, GO:0000902, positive regulation of excitatory postsynaptic potential, positive regulation of vascular associated smooth muscle cell migration, positive regulation of AMPA glutamate receptor clustering, positive regulation of neuron death, excitatory chemical synaptic transmission, cellular response to ATP, peptidyl-tyrosine dephosphorylation, regulation of cellular protein metabolic process, positive regulation of synaptic plasticity, negative regulation of actin filament polymerization, actin cytoskeleton organization, actin cytoskeleton organization, protein dephosphorylation, cell morphogenesis, 709 688 911 458 692 627 658 524 547 ENSG00000084207 chr11 67583595 67586656 + GSTP1 protein_coding Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008]. 2950 GO:1904813, GO:0097057, GO:0070062, GO:0034774, GO:0031982, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005634, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, TRAF2-GSTP1 complex, extracellular exosome, secretory granule lumen, vesicle, plasma membrane, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, nucleus, extracellular space, extracellular region, GO:0070026, GO:0043295, GO:0035731, GO:0035730, GO:0019207, GO:0008432, GO:0008144, GO:0005515, GO:0005504, GO:0004602, GO:0004364, GO:0004364, nitric oxide binding, glutathione binding, dinitrosyl-iron complex binding, S-nitrosoglutathione binding, kinase regulator activity, JUN kinase binding, drug binding, protein binding, fatty acid binding, glutathione peroxidase activity, glutathione transferase activity, glutathione transferase activity, GO:2001237, GO:1904706, GO:1901687, GO:1901687, GO:0098869, GO:0071672, GO:0071638, GO:0071460, GO:0071385, GO:0071364, GO:0071222, GO:0070664, GO:0070373, GO:0070372, GO:0051771, GO:0051122, GO:0048147, GO:0045471, GO:0043651, GO:0043508, GO:0043409, GO:0043407, GO:0043312, GO:0043200, GO:0043124, GO:0043066, GO:0035732, GO:0035726, GO:0034599, GO:0033591, GO:0032930, GO:0032873, GO:0032872, GO:0032869, GO:0032720, GO:0032691, GO:0032355, GO:0031100, GO:0014003, GO:0010804, GO:0009890, GO:0007417, GO:0006805, GO:0006749, GO:0006749, GO:0006693, GO:0006469, GO:0002674, GO:0000302, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of vascular associated smooth muscle cell proliferation, glutathione derivative biosynthetic process, glutathione derivative biosynthetic process, cellular oxidant detoxification, negative regulation of smooth muscle cell chemotaxis, negative regulation of monocyte chemotactic protein-1 production, cellular response to cell-matrix adhesion, cellular response to glucocorticoid stimulus, cellular response to epidermal growth factor stimulus, cellular response to lipopolysaccharide, negative regulation of leukocyte proliferation, negative regulation of ERK1 and ERK2 cascade, regulation of ERK1 and ERK2 cascade, negative regulation of nitric-oxide synthase biosynthetic process, hepoxilin biosynthetic process, negative regulation of fibroblast proliferation, response to ethanol, linoleic acid metabolic process, negative regulation of JUN kinase activity, negative regulation of MAPK cascade, negative regulation of MAP kinase activity, neutrophil degranulation, response to amino acid, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, nitric oxide storage, common myeloid progenitor cell proliferation, cellular response to oxidative stress, response to L-ascorbic acid, positive regulation of superoxide anion generation, negative regulation of stress-activated MAPK cascade, regulation of stress-activated MAPK cascade, cellular response to insulin stimulus, negative regulation of tumor necrosis factor production, negative regulation of interleukin-1 beta production, response to estradiol, animal organ regeneration, oligodendrocyte development, negative regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of biosynthetic process, central nervous system development, xenobiotic metabolic process, glutathione metabolic process, glutathione metabolic process, prostaglandin metabolic process, negative regulation of protein kinase activity, negative regulation of acute inflammatory response, response to reactive oxygen species, 49 45 123 100 106 181 70 93 112 ENSG00000084234 chr11 130068147 130144811 + APLP2 protein_coding This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 334 GO:0070062, GO:0031092, GO:0016021, GO:0016020, GO:0005886, GO:0005788, GO:0005634, extracellular exosome, platelet alpha granule membrane, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum lumen, nucleus, GO:0046914, GO:0042802, GO:0008201, GO:0005515, GO:0004867, GO:0003677, transition metal ion binding, identical protein binding, heparin binding, protein binding, serine-type endopeptidase inhibitor activity, DNA binding, GO:0044267, GO:0043687, GO:0010951, GO:0007186, GO:0002576, cellular protein metabolic process, post-translational protein modification, negative regulation of endopeptidase activity, G protein-coupled receptor signaling pathway, platelet degranulation, 6929 6948 9432 1745 3387 2568 2317 2991 2245 ENSG00000084444 chr12 13044284 13142521 + FAM234B protein_coding 57613 GO:0150051, GO:0016021, GO:0005856, postsynaptic Golgi apparatus, integral component of membrane, cytoskeleton, 4 14 17 13 10 25 13 9 27 ENSG00000084453 chr12 21264600 21419594 - SLCO1A2 protein_coding This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]. 6579 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015347, GO:0015125, GO:0015125, GO:0008514, sodium-independent organic anion transmembrane transporter activity, bile acid transmembrane transporter activity, bile acid transmembrane transporter activity, organic anion transmembrane transporter activity, GO:0055085, GO:0043252, GO:0043252, GO:0015721, GO:0015721, GO:0015711, transmembrane transport, sodium-independent organic anion transport, sodium-independent organic anion transport, bile acid and bile salt transport, bile acid and bile salt transport, organic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000084463 chr12 14784579 14803540 - WBP11 protein_coding This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]. 51729 GO:0043231, GO:0005829, GO:0005681, GO:0005654, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, cytosol, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0050699, GO:0005515, GO:0003723, GO:0003697, WW domain binding, protein binding, RNA binding, single-stranded DNA binding, GO:0045292, GO:0006364, GO:0000398, mRNA cis splicing, via spliceosome, rRNA processing, mRNA splicing, via spliceosome, 855 1052 1021 602 694 645 620 579 609 ENSG00000084623 chr1 32221928 32231604 + EIF3I protein_coding 8668 GO:0071541, GO:0070062, GO:0033290, GO:0016282, GO:0005852, GO:0005829, eukaryotic translation initiation factor 3 complex, eIF3m, extracellular exosome, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, eukaryotic translation initiation factor 3 complex, cytosol, GO:0005515, GO:0003743, GO:0003743, GO:0003743, GO:0003743, GO:0003723, protein binding, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, RNA binding, GO:0006413, GO:0006413, GO:0006413, GO:0002183, GO:0001732, translational initiation, translational initiation, translational initiation, cytoplasmic translational initiation, formation of cytoplasmic translation initiation complex, 802 694 925 967 1182 1314 914 774 884 ENSG00000084628 chr1 31179745 31239554 - NKAIN1 protein_coding NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]. 79570 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0051117, ATPase binding, GO:0002028, regulation of sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000084636 chr1 31652247 31704319 - COL16A1 protein_coding This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]. 1307 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005597, GO:0005588, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type XVI trimer, collagen type V trimer, extracellular region, GO:0030020, GO:0030020, GO:0005515, GO:0005201, GO:0005178, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, integrin binding, GO:0071230, GO:0051894, GO:0033627, GO:0033622, GO:0030198, GO:0030198, GO:0007565, GO:0007229, GO:0007155, cellular response to amino acid stimulus, positive regulation of focal adhesion assembly, cell adhesion mediated by integrin, integrin activation, extracellular matrix organization, extracellular matrix organization, female pregnancy, integrin-mediated signaling pathway, cell adhesion, 1 0 0 6 1 0 0 2 0 ENSG00000084652 chr1 32179686 32198285 + TXLNA protein_coding 200081 GO:0016020, GO:0005829, GO:0005737, GO:0005576, membrane, cytosol, cytoplasm, extracellular region, GO:0019905, GO:0005515, syntaxin binding, protein binding, GO:0042113, GO:0019221, GO:0006887, B cell activation, cytokine-mediated signaling pathway, exocytosis, 217 298 360 249 234 308 239 189 306 ENSG00000084674 chr2 21001429 21044073 - APOB protein_coding This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]. 338 GO:0071682, GO:0070971, GO:0070062, GO:0043231, GO:0043202, GO:0043025, GO:0042627, GO:0034364, GO:0034363, GO:0034362, GO:0034362, GO:0034362, GO:0034361, GO:0034361, GO:0034361, GO:0034360, GO:0034359, GO:0034359, GO:0031983, GO:0031904, GO:0030669, GO:0010008, GO:0005886, GO:0005829, GO:0005829, GO:0005811, GO:0005790, GO:0005789, GO:0005788, GO:0005769, GO:0005737, GO:0005615, GO:0005576, GO:0005576, endocytic vesicle lumen, endoplasmic reticulum exit site, extracellular exosome, intracellular membrane-bounded organelle, lysosomal lumen, neuronal cell body, chylomicron, high-density lipoprotein particle, intermediate-density lipoprotein particle, low-density lipoprotein particle, low-density lipoprotein particle, low-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, chylomicron remnant, mature chylomicron, mature chylomicron, vesicle lumen, endosome lumen, clathrin-coated endocytic vesicle membrane, endosome membrane, plasma membrane, cytosol, cytosol, lipid droplet, smooth endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum lumen, early endosome, cytoplasm, extracellular space, extracellular region, extracellular region, GO:0120020, GO:0120020, GO:0050750, GO:0050750, GO:0050750, GO:0035473, GO:0008201, GO:0005543, GO:0005515, cholesterol transfer activity, cholesterol transfer activity, low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, lipase binding, heparin binding, phospholipid binding, protein binding, GO:0120009, GO:0071379, GO:0071356, GO:0061024, GO:0050900, GO:0048844, GO:0045540, GO:0044267, GO:0043687, GO:0042953, GO:0042632, GO:0042632, GO:0042159, GO:0042158, GO:0034447, GO:0034383, GO:0034383, GO:0034382, GO:0034379, GO:0034379, GO:0034378, GO:0034374, GO:0034374, GO:0034371, GO:0033344, GO:0032496, GO:0032355, GO:0030317, GO:0030301, GO:0030301, GO:0019433, GO:0010886, GO:0010884, GO:0010744, GO:0010628, GO:0010269, GO:0009791, GO:0009743, GO:0009615, GO:0009566, GO:0008203, GO:0007399, GO:0007283, GO:0006898, GO:0006642, GO:0002224, GO:0001701, GO:0001523, intermembrane lipid transfer, cellular response to prostaglandin stimulus, cellular response to tumor necrosis factor, membrane organization, leukocyte migration, artery morphogenesis, regulation of cholesterol biosynthetic process, cellular protein metabolic process, post-translational protein modification, lipoprotein transport, cholesterol homeostasis, cholesterol homeostasis, lipoprotein catabolic process, lipoprotein biosynthetic process, very-low-density lipoprotein particle clearance, low-density lipoprotein particle clearance, low-density lipoprotein particle clearance, chylomicron remnant clearance, very-low-density lipoprotein particle assembly, very-low-density lipoprotein particle assembly, chylomicron assembly, low-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, chylomicron remodeling, cholesterol efflux, response to lipopolysaccharide, response to estradiol, flagellated sperm motility, cholesterol transport, cholesterol transport, triglyceride catabolic process, positive regulation of cholesterol storage, positive regulation of lipid storage, positive regulation of macrophage derived foam cell differentiation, positive regulation of gene expression, response to selenium ion, post-embryonic development, response to carbohydrate, response to virus, fertilization, cholesterol metabolic process, nervous system development, spermatogenesis, receptor-mediated endocytosis, triglyceride mobilization, toll-like receptor signaling pathway, in utero embryonic development, retinoid metabolic process, 0 0 0 2 0 0 0 0 0 ENSG00000084676 chr2 24491914 24770702 + NCOA1 protein_coding The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 8648 GO:0043005, GO:0032991, GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, neuron projection, protein-containing complex, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0047485, GO:0046983, GO:0046965, GO:0044877, GO:0035257, GO:0033142, GO:0030374, GO:0030374, GO:0030331, GO:0019899, GO:0017162, GO:0016922, GO:0016922, GO:0005515, GO:0004402, GO:0003713, GO:0003713, GO:0003682, GO:0000977, protein N-terminus binding, protein dimerization activity, retinoid X receptor binding, protein-containing complex binding, nuclear hormone receptor binding, progesterone receptor binding, nuclear receptor coactivator activity, nuclear receptor coactivator activity, estrogen receptor binding, enzyme binding, aryl hydrocarbon receptor binding, nuclear receptor binding, nuclear receptor binding, protein binding, histone acetyltransferase activity, transcription coactivator activity, transcription coactivator activity, chromatin binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001038, GO:1904017, GO:0060713, GO:0060179, GO:0045944, GO:0045944, GO:0045944, GO:0045925, GO:0045893, GO:0045666, GO:0044849, GO:0043967, GO:0043065, GO:0032870, GO:0032570, GO:0032526, GO:0032355, GO:0021987, GO:0021854, GO:0021766, GO:0021549, GO:0019216, GO:0015721, GO:0008584, GO:0007595, GO:0002155, GO:0000435, regulation of cellular response to drug, cellular response to Thyroglobulin triiodothyronine, labyrinthine layer morphogenesis, male mating behavior, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of female receptivity, positive regulation of transcription, DNA-templated, positive regulation of neuron differentiation, estrous cycle, histone H4 acetylation, positive regulation of apoptotic process, cellular response to hormone stimulus, response to progesterone, response to retinoic acid, response to estradiol, cerebral cortex development, hypothalamus development, hippocampus development, cerebellum development, regulation of lipid metabolic process, bile acid and bile salt transport, male gonad development, lactation, regulation of thyroid hormone mediated signaling pathway, positive regulation of transcription from RNA polymerase II promoter by galactose, 5131 5280 6061 1935 3257 2559 2216 2565 2165 ENSG00000084693 chr2 27042364 27070622 + AGBL5 protein_coding This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a 'dual-functional' deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]. 60509 GO:0072686, GO:0045171, GO:0030496, GO:0015630, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, mitotic spindle, intercellular bridge, midbody, microtubule cytoskeleton, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0015631, GO:0008270, GO:0004181, tubulin binding, zinc ion binding, metallocarboxypeptidase activity, GO:0051607, GO:0035611, GO:0035608, GO:0006508, defense response to virus, protein branching point deglutamylation, protein deglutamylation, proteolysis, 81 64 108 86 113 69 86 74 77 ENSG00000084710 chr2 25042130 25159137 + EFR3B protein_coding 22979 GO:0015629, GO:0005886, GO:0005886, GO:0005829, actin cytoskeleton, plasma membrane, plasma membrane, cytosol, GO:0005515, protein binding, GO:0072659, GO:0072659, GO:0046854, protein localization to plasma membrane, protein localization to plasma membrane, phosphatidylinositol phosphorylation, 3 2 5 9 7 0 4 4 0 ENSG00000084731 chr2 25926596 25982749 - KIF3C protein_coding 3797 GO:0097542, GO:0005929, GO:0005874, GO:0005871, GO:0005829, ciliary tip, cilium, microtubule, kinesin complex, cytosol, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003774, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, motor activity, GO:0072384, GO:0035735, GO:0019886, GO:0007018, GO:0007018, GO:0006890, organelle transport along microtubule, intraciliary transport involved in cilium assembly, antigen processing and presentation of exogenous peptide antigen via MHC class II, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 88 82 138 49 45 104 40 46 53 ENSG00000084733 chr2 26034107 26137454 + RAB10 protein_coding RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009]. 10890 GO:0071782, GO:0070382, GO:0070062, GO:0055038, GO:0055037, GO:0055037, GO:0048471, GO:0032593, GO:0032593, GO:0030670, GO:0030667, GO:0030659, GO:0008021, GO:0005929, GO:0005925, GO:0005912, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005802, GO:0005794, GO:0005794, GO:0005789, GO:0005768, GO:0005768, GO:0000145, GO:0000139, endoplasmic reticulum tubular network, exocytic vesicle, extracellular exosome, recycling endosome membrane, recycling endosome, recycling endosome, perinuclear region of cytoplasm, insulin-responsive compartment, insulin-responsive compartment, phagocytic vesicle membrane, secretory granule membrane, cytoplasmic vesicle membrane, synaptic vesicle, cilium, focal adhesion, adherens junction, plasma membrane, plasma membrane, cytoskeleton, cytosol, trans-Golgi network, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endosome, endosome, exocyst, Golgi membrane, GO:0098641, GO:0031489, GO:0019003, GO:0005525, GO:0005515, GO:0003924, cadherin binding involved in cell-cell adhesion, myosin V binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:1903361, GO:0098609, GO:0097051, GO:0090150, GO:0072659, GO:0072659, GO:0071786, GO:0045200, GO:0045055, GO:0043312, GO:0043001, GO:0032869, GO:0032869, GO:0030859, GO:0019882, GO:0017157, GO:0016197, GO:0016192, GO:0009306, GO:0007409, GO:0006904, GO:0006893, protein localization to basolateral plasma membrane, cell-cell adhesion, establishment of protein localization to endoplasmic reticulum membrane, establishment of protein localization to membrane, protein localization to plasma membrane, protein localization to plasma membrane, endoplasmic reticulum tubular network organization, establishment of neuroblast polarity, regulated exocytosis, neutrophil degranulation, Golgi to plasma membrane protein transport, cellular response to insulin stimulus, cellular response to insulin stimulus, polarized epithelial cell differentiation, antigen processing and presentation, regulation of exocytosis, endosomal transport, vesicle-mediated transport, protein secretion, axonogenesis, vesicle docking involved in exocytosis, Golgi to plasma membrane transport, 852 721 998 460 788 616 516 672 592 ENSG00000084734 chr2 27496842 27523684 + GCKR protein_coding This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]. 2646 GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005654, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, GO:0070095, GO:0070095, GO:0030246, GO:0019899, GO:0005515, GO:0004857, fructose-6-phosphate binding, fructose-6-phosphate binding, carbohydrate binding, enzyme binding, protein binding, enzyme inhibitor activity, GO:1901135, GO:0070328, GO:0046415, GO:0042593, GO:0033132, GO:0033132, GO:0009750, GO:0009750, GO:0006606, GO:0006110, GO:0005975, carbohydrate derivative metabolic process, triglyceride homeostasis, urate metabolic process, glucose homeostasis, negative regulation of glucokinase activity, negative regulation of glucokinase activity, response to fructose, response to fructose, protein import into nucleus, regulation of glycolytic process, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000084754 chr2 26190635 26244726 - HADHA protein_coding This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]. 3030 GO:0042645, GO:0016507, GO:0005743, GO:0005739, GO:0005739, mitochondrial nucleoid, mitochondrial fatty acid beta-oxidation multienzyme complex, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0051287, GO:0044877, GO:0016509, GO:0016508, GO:0005515, GO:0004300, GO:0003985, GO:0003857, GO:0000062, NAD binding, protein-containing complex binding, long-chain-3-hydroxyacyl-CoA dehydrogenase activity, long-chain-enoyl-CoA hydratase activity, protein binding, enoyl-CoA hydratase activity, acetyl-CoA C-acetyltransferase activity, 3-hydroxyacyl-CoA dehydrogenase activity, fatty-acyl-CoA binding, GO:0042493, GO:0035965, GO:0035965, GO:0032868, GO:0006635, GO:0006635, GO:0006635, response to drug, cardiolipin acyl-chain remodeling, cardiolipin acyl-chain remodeling, response to insulin, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, 480 485 556 537 443 564 501 342 477 ENSG00000084764 chr2 26970612 27027196 + MAPRE3 protein_coding The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]. 22924 GO:1905721, GO:0051233, GO:0035371, GO:0030496, GO:0005815, GO:0005737, mitotic spindle astral microtubule end, spindle midzone, microtubule plus-end, midbody, microtubule organizing center, cytoplasm, GO:0051010, GO:0042802, GO:0019901, GO:0008022, GO:0008017, GO:0005515, microtubule plus-end binding, identical protein binding, protein kinase binding, protein C-terminus binding, microtubule binding, protein binding, GO:1904825, GO:1903033, GO:0051301, GO:0051225, GO:0045893, GO:0045860, GO:0045737, GO:0031113, GO:0031110, GO:0008104, protein localization to microtubule plus-end, positive regulation of microtubule plus-end binding, cell division, spindle assembly, positive regulation of transcription, DNA-templated, positive regulation of protein kinase activity, positive regulation of cyclin-dependent protein serine/threonine kinase activity, regulation of microtubule polymerization, regulation of microtubule polymerization or depolymerization, protein localization, 187 178 149 197 192 143 219 159 156 ENSG00000084774 chr2 27217390 27243943 + CAD protein_coding The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 790 GO:0070062, GO:0043195, GO:0043025, GO:0042995, GO:0032991, GO:0016363, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, terminal bouton, neuronal cell body, cell projection, protein-containing complex, nuclear matrix, membrane, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0070335, GO:0042802, GO:0042802, GO:0019899, GO:0008270, GO:0005524, GO:0004672, GO:0004151, GO:0004151, GO:0004151, GO:0004088, GO:0004070, GO:0004070, aspartate binding, identical protein binding, identical protein binding, enzyme binding, zinc ion binding, ATP binding, protein kinase activity, dihydroorotase activity, dihydroorotase activity, dihydroorotase activity, carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity, aspartate carbamoyltransferase activity, aspartate carbamoyltransferase activity, GO:0071364, GO:0051414, GO:0046777, GO:0046134, GO:0044205, GO:0042594, GO:0035690, GO:0033574, GO:0032868, GO:0031100, GO:0031000, GO:0019240, GO:0018107, GO:0017144, GO:0014075, GO:0007595, GO:0007565, GO:0007507, GO:0006807, GO:0006541, GO:0006541, GO:0006228, GO:0006207, GO:0006207, GO:0006207, GO:0001889, cellular response to epidermal growth factor stimulus, response to cortisol, protein autophosphorylation, pyrimidine nucleoside biosynthetic process, 'de novo' UMP biosynthetic process, response to starvation, cellular response to drug, response to testosterone, response to insulin, animal organ regeneration, response to caffeine, citrulline biosynthetic process, peptidyl-threonine phosphorylation, drug metabolic process, response to amine, lactation, female pregnancy, heart development, nitrogen compound metabolic process, glutamine metabolic process, glutamine metabolic process, UTP biosynthetic process, 'de novo' pyrimidine nucleobase biosynthetic process, 'de novo' pyrimidine nucleobase biosynthetic process, 'de novo' pyrimidine nucleobase biosynthetic process, liver development, 41 57 104 105 63 75 112 56 127 ENSG00000085063 chr11 33703010 33736491 - CD59 protein_coding This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]. 966 GO:0070821, GO:0070062, GO:0035579, GO:0033116, GO:0031982, GO:0031362, GO:0030133, GO:0016020, GO:0012507, GO:0009986, GO:0005925, GO:0005886, GO:0005886, GO:0005789, GO:0005615, GO:0000139, tertiary granule membrane, extracellular exosome, specific granule membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, vesicle, anchored component of external side of plasma membrane, transport vesicle, membrane, ER to Golgi transport vesicle membrane, cell surface, focal adhesion, plasma membrane, plasma membrane, endoplasmic reticulum membrane, extracellular space, Golgi membrane, GO:0005515, GO:0001848, protein binding, complement binding, GO:1903659, GO:0048208, GO:0043312, GO:0030449, GO:0030449, GO:0007596, GO:0007166, GO:0006888, GO:0001971, regulation of complement-dependent cytotoxicity, COPII vesicle coating, neutrophil degranulation, regulation of complement activation, regulation of complement activation, blood coagulation, cell surface receptor signaling pathway, endoplasmic reticulum to Golgi vesicle-mediated transport, negative regulation of activation of membrane attack complex, 570 355 735 275 308 462 323 285 411 ENSG00000085117 chr11 44564427 44620363 + CD82 protein_coding This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3732 GO:0070062, GO:0005887, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, 2063 1721 2937 560 1197 748 741 1107 902 ENSG00000085185 chrX 129981107 130058083 + BCORL1 protein_coding The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 63035 GO:0005886, GO:0005654, plasma membrane, nucleoplasm, GO:0006325, chromatin organization, 297 275 356 157 210 275 214 199 203 ENSG00000085224 chrX 77504878 77786233 - ATRX protein_coding The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]. 546 GO:0099115, GO:0016605, GO:0016604, GO:0005721, GO:0005721, GO:0005654, GO:0005634, GO:0000792, GO:0000781, GO:0000781, GO:0000779, chromosome, subtelomeric region, PML body, nuclear body, pericentric heterochromatin, pericentric heterochromatin, nucleoplasm, nucleus, heterochromatin, chromosome, telomeric region, chromosome, telomeric region, condensed chromosome, centromeric region, GO:0070087, GO:0046872, GO:0042393, GO:0035064, GO:0015616, GO:0005524, GO:0005515, GO:0003682, GO:0003678, GO:0003677, chromo shadow domain binding, metal ion binding, histone binding, methylated histone binding, DNA translocase activity, ATP binding, protein binding, chromatin binding, DNA helicase activity, DNA binding, GO:1904908, GO:1901582, GO:1901581, GO:1900112, GO:0072711, GO:0072520, GO:0070198, GO:0070192, GO:0060009, GO:0045944, GO:0035264, GO:0035128, GO:0032508, GO:0032206, GO:0031297, GO:0030900, GO:0030330, GO:0010571, GO:0007283, GO:0006355, GO:0006338, GO:0006336, GO:0006334, GO:0006306, GO:0006281, GO:0000212, negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric, positive regulation of telomeric RNA transcription from RNA pol II promoter, negative regulation of telomeric RNA transcription from RNA pol II promoter, regulation of histone H3-K9 trimethylation, cellular response to hydroxyurea, seminiferous tubule development, protein localization to chromosome, telomeric region, chromosome organization involved in meiotic cell cycle, Sertoli cell development, positive regulation of transcription by RNA polymerase II, multicellular organism growth, post-embryonic forelimb morphogenesis, DNA duplex unwinding, positive regulation of telomere maintenance, replication fork processing, forebrain development, DNA damage response, signal transduction by p53 class mediator, positive regulation of nuclear cell cycle DNA replication, spermatogenesis, regulation of transcription, DNA-templated, chromatin remodeling, DNA replication-independent nucleosome assembly, nucleosome assembly, DNA methylation, DNA repair, meiotic spindle organization, 1645 1698 1853 900 1091 1285 1011 880 963 ENSG00000085231 chr5 69350984 69370013 - AK6 protein_coding This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 102157402 GO:0016607, GO:0016020, GO:0015030, GO:0005829, GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, nuclear speck, membrane, Cajal body, cytosol, centrosome, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0050145, GO:0016887, GO:0005524, GO:0005515, GO:0004017, GO:0004017, nucleoside monophosphate kinase activity, ATPase activity, ATP binding, protein binding, adenylate kinase activity, adenylate kinase activity, GO:0046940, GO:0016310, GO:0015949, nucleoside monophosphate phosphorylation, phosphorylation, nucleobase-containing small molecule interconversion, 0 0 0 0 0 0 0 0 0 ENSG00000085265 chr9 134905890 134917963 - FCN1 protein_coding The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]. 2219 GO:1904813, GO:0062023, GO:0062023, GO:0034774, GO:0031232, GO:0005615, GO:0005581, GO:0005576, ficolin-1-rich granule lumen, collagen-containing extracellular matrix, collagen-containing extracellular matrix, secretory granule lumen, extrinsic component of external side of plasma membrane, extracellular space, collagen trimer, extracellular region, GO:0097367, GO:0046872, GO:0038187, GO:0033691, GO:0030246, GO:0005515, GO:0005102, GO:0003823, GO:0001664, carbohydrate derivative binding, metal ion binding, pattern recognition receptor activity, sialic acid binding, carbohydrate binding, protein binding, signaling receptor binding, antigen binding, G protein-coupled receptor binding, GO:0046597, GO:0043654, GO:0043312, GO:0034394, GO:0032757, GO:0007186, GO:0006956, GO:0002752, GO:0001867, GO:0001867, negative regulation of viral entry into host cell, recognition of apoptotic cell, neutrophil degranulation, protein localization to cell surface, positive regulation of interleukin-8 production, G protein-coupled receptor signaling pathway, complement activation, cell surface pattern recognition receptor signaling pathway, complement activation, lectin pathway, complement activation, lectin pathway, 2058 2427 3436 609 1731 1402 1037 1651 1229 ENSG00000085274 chr3 169772831 169789716 + MYNN protein_coding This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]. 55892 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990830, GO:0006357, cellular response to leukemia inhibitory factor, regulation of transcription by RNA polymerase II, 817 645 814 362 365 418 434 340 326 ENSG00000085276 chr3 169083499 169663618 - MECOM protein_coding The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 2122 GO:0016607, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000118, nuclear speck, cytosol, nucleoplasm, nucleus, nucleus, histone deacetylase complex, GO:0046974, GO:0046872, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000978, histone methyltransferase activity (H3-K9 specific), metal ion binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071425, GO:0070828, GO:0051726, GO:0051567, GO:0046329, GO:0045944, GO:0045893, GO:0045892, GO:0043069, GO:0030154, GO:0006915, GO:0006357, hematopoietic stem cell proliferation, heterochromatin organization, regulation of cell cycle, histone H3-K9 methylation, negative regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of programmed cell death, cell differentiation, apoptotic process, regulation of transcription by RNA polymerase II, 1 3 1 0 0 4 5 0 0 ENSG00000085365 chr5 78360583 78479071 + SCAMP1 protein_coding This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 9522 GO:0055038, GO:0055038, GO:0042589, GO:0035579, GO:0032588, GO:0030672, GO:0030136, GO:0016021, GO:0005886, GO:0005802, recycling endosome membrane, recycling endosome membrane, zymogen granule membrane, specific granule membrane, trans-Golgi network membrane, synaptic vesicle membrane, clathrin-coated vesicle, integral component of membrane, plasma membrane, trans-Golgi network, GO:0005515, protein binding, GO:0043312, GO:0015031, GO:0015031, GO:0006892, neutrophil degranulation, protein transport, protein transport, post-Golgi vesicle-mediated transport, 139 75 241 119 77 164 100 60 132 ENSG00000085377 chr6 105277565 105403084 - PREP protein_coding The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]. 5550 GO:0016020, GO:0005829, GO:0005829, GO:0005634, membrane, cytosol, cytosol, nucleus, GO:0070012, GO:0008236, GO:0005515, GO:0004252, GO:0004175, oligopeptidase activity, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, endopeptidase activity, GO:0006508, proteolysis, 12 23 37 55 18 64 62 28 31 ENSG00000085382 chr6 104728093 104859919 - HACE1 protein_coding This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]. 57531 GO:0032580, GO:0016604, GO:0005783, GO:0005737, GO:0005634, GO:0000139, GO:0000139, Golgi cisterna membrane, nuclear body, endoplasmic reticulum, cytoplasm, nucleus, Golgi membrane, Golgi membrane, GO:0061630, GO:0031267, GO:0031267, GO:0005515, GO:0004842, ubiquitin protein ligase activity, small GTPase binding, small GTPase binding, protein binding, ubiquitin-protein transferase activity, GO:0070936, GO:0061025, GO:0061025, GO:0045732, GO:0043161, GO:0030334, GO:0016601, GO:0016567, GO:0016567, GO:0007049, GO:0007030, GO:0007030, GO:0006511, GO:0000209, protein K48-linked ubiquitination, membrane fusion, membrane fusion, positive regulation of protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of cell migration, Rac protein signal transduction, protein ubiquitination, protein ubiquitination, cell cycle, Golgi organization, Golgi organization, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 26 13 27 18 11 36 36 5 34 ENSG00000085415 chr18 12947133 12987536 + SEH1L protein_coding The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 81929 GO:0061700, GO:0043657, GO:0035859, GO:0031080, GO:0031080, GO:0031080, GO:0005829, GO:0005765, GO:0005635, GO:0000777, GO:0000776, GATOR2 complex, host cell, Seh1-associated complex, nuclear pore outer ring, nuclear pore outer ring, nuclear pore outer ring, cytosol, lysosomal membrane, nuclear envelope, condensed chromosome kinetochore, kinetochore, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:1904263, GO:1904263, GO:1900034, GO:0075733, GO:0060964, GO:0051315, GO:0051301, GO:0050830, GO:0034629, GO:0034629, GO:0034198, GO:0032008, GO:0019083, GO:0016925, GO:0016032, GO:0007080, GO:0006999, GO:0006409, GO:0006406, GO:0006110, GO:0002534, positive regulation of TORC1 signaling, positive regulation of TORC1 signaling, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, attachment of mitotic spindle microtubules to kinetochore, cell division, defense response to Gram-positive bacterium, cellular protein-containing complex localization, cellular protein-containing complex localization, cellular response to amino acid starvation, positive regulation of TOR signaling, viral transcription, protein sumoylation, viral process, mitotic metaphase plate congression, nuclear pore organization, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, cytokine production involved in inflammatory response, 50 51 72 72 49 99 68 35 46 ENSG00000085433 chr1 108970214 109042113 - WDR47 protein_coding 22911 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0005515, protein binding, GO:0007275, multicellular organism development, 552 523 658 304 360 428 351 292 266 ENSG00000085449 chr2 223855716 223945387 - WDFY1 protein_coding The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]. 57590 GO:0005829, GO:0005769, GO:0005634, cytosol, early endosome, nucleus, GO:0008270, GO:0005545, GO:0005515, zinc ion binding, 1-phosphatidylinositol binding, protein binding, GO:0034145, GO:0034141, positive regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 3 signaling pathway, 490 461 568 374 623 610 441 502 465 ENSG00000085465 chr1 111414314 111427777 - OVGP1 protein_coding This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq, Jul 2008]. 5016 GO:0098595, GO:0035805, GO:0030133, GO:0005829, GO:0005576, perivitelline space, egg coat, transport vesicle, cytosol, extracellular region, GO:0008061, GO:0004568, chitin binding, chitinase activity, GO:2000360, GO:0007565, GO:0007339, GO:0006032, GO:0005975, negative regulation of binding of sperm to zona pellucida, female pregnancy, binding of sperm to zona pellucida, chitin catabolic process, carbohydrate metabolic process, 4 7 6 19 2 12 27 2 7 ENSG00000085491 chr1 108134036 108200849 - SLC25A24 protein_coding This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 29957 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0005509, GO:0005347, GO:0005347, calcium ion binding, ATP transmembrane transporter activity, ATP transmembrane transporter activity, GO:0071277, GO:0055085, GO:0034599, GO:0015867, GO:0010941, GO:0006839, cellular response to calcium ion, transmembrane transport, cellular response to oxidative stress, ATP transport, regulation of cell death, mitochondrial transport, 37 54 104 56 74 124 31 54 41 ENSG00000085511 chr6 160991727 161117385 + MAP3K4 protein_coding The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 2014]. 4216 GO:0048471, GO:0005737, perinuclear region of cytoplasm, cytoplasm, GO:0046872, GO:0005524, GO:0005515, GO:0004709, metal ion binding, ATP binding, protein binding, MAP kinase kinase kinase activity, GO:1904355, GO:1900745, GO:0060718, GO:0051973, GO:0043507, GO:0035556, GO:0032212, GO:0019100, GO:0010468, GO:0010225, GO:0001890, GO:0000186, GO:0000165, positive regulation of telomere capping, positive regulation of p38MAPK cascade, chorionic trophoblast cell differentiation, positive regulation of telomerase activity, positive regulation of JUN kinase activity, intracellular signal transduction, positive regulation of telomere maintenance via telomerase, male germ-line sex determination, regulation of gene expression, response to UV-C, placenta development, activation of MAPKK activity, MAPK cascade, 63 35 106 109 29 107 151 47 95 ENSG00000085514 chr7 100367530 100400099 + PILRA protein_coding Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]. 29992 GO:0070062, GO:0016021, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, GO:0042288, GO:0005515, MHC class I protein binding, protein binding, GO:0050776, GO:0016032, GO:0007165, regulation of immune response, viral process, signal transduction, 3817 4748 6389 1018 2782 2549 1588 2912 2472 ENSG00000085552 chr1 159927039 159945604 - IGSF9 protein_coding 57549 GO:0060077, GO:0030425, GO:0030424, GO:0016021, GO:0005886, inhibitory synapse, dendrite, axon, integral component of membrane, plasma membrane, GO:0098632, cell-cell adhesion mediator activity, GO:0070593, GO:0050807, GO:0016358, GO:0007411, GO:0007156, dendrite self-avoidance, regulation of synapse organization, dendrite development, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, 6 12 10 6 26 33 16 17 23 ENSG00000085563 chr7 87503633 87713323 - ABCB1 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 5243 GO:0098591, GO:0070062, GO:0016324, GO:0016021, GO:0016021, GO:0016020, GO:0009986, GO:0005886, GO:0005886, GO:0005886, external side of apical plasma membrane, extracellular exosome, apical plasma membrane, integral component of membrane, integral component of membrane, membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, GO:0140328, GO:0099038, GO:0099038, GO:0090555, GO:0090555, GO:0090554, GO:0090554, GO:0042910, GO:0042910, GO:0042626, GO:0031625, GO:0016887, GO:0015562, GO:0015562, GO:0008559, GO:0005524, GO:0005515, GO:0005215, floppase activity, ceramide floppase activity, ceramide floppase activity, phosphatidylethanolamine flippase activity, phosphatidylethanolamine flippase activity, phosphatidylcholine floppase activity, phosphatidylcholine floppase activity, xenobiotic transmembrane transporter activity, xenobiotic transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ubiquitin protein ligase binding, ATPase activity, efflux transmembrane transporter activity, efflux transmembrane transporter activity, ATPase-coupled xenobiotic transmembrane transporter activity, ATP binding, protein binding, transporter activity, GO:2001225, GO:1990962, GO:1990962, GO:1901529, GO:0150104, GO:0140115, GO:0140115, GO:0099040, GO:0099040, GO:0072089, GO:0070633, GO:0070633, GO:0055085, GO:0047484, GO:0045332, GO:0045332, GO:0042493, GO:0000086, regulation of chloride transport, xenobiotic transport across blood-brain barrier, xenobiotic transport across blood-brain barrier, positive regulation of anion channel activity, transport across blood-brain barrier, export across plasma membrane, export across plasma membrane, ceramide translocation, ceramide translocation, stem cell proliferation, transepithelial transport, transepithelial transport, transmembrane transport, regulation of response to osmotic stress, phospholipid translocation, phospholipid translocation, response to drug, G2/M transition of mitotic cell cycle, 24 10 45 56 24 45 73 20 43 ENSG00000085644 chr16 3129777 3142805 + ZNF213 protein_coding C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM, Apr 2004]. 7760 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 193 211 249 49 95 60 77 95 32 ENSG00000085662 chr7 134442350 134459284 - AKR1B1 protein_coding This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]. 231 GO:0097454, GO:0070062, GO:0048471, GO:0043220, GO:0042629, GO:0033010, GO:0032838, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005615, Schwann cell microvillus, extracellular exosome, perinuclear region of cytoplasm, Schmidt-Lanterman incisure, mast cell granule, paranodal junction, plasma membrane bounded cell projection cytoplasm, cytosol, cytosol, cytosol, nucleoplasm, extracellular space, GO:0052650, GO:0047655, GO:0043795, GO:0009055, GO:0005515, GO:0004032, GO:0004032, GO:0004032, GO:0001758, NADP-retinol dehydrogenase activity, allyl-alcohol dehydrogenase activity, glyceraldehyde oxidoreductase activity, electron transfer activity, protein binding, alditol:NADP+ 1-oxidoreductase activity, alditol:NADP+ 1-oxidoreductase activity, alditol:NADP+ 1-oxidoreductase activity, retinal dehydrogenase activity, GO:1901653, GO:0097238, GO:0097066, GO:0072205, GO:0072061, GO:0071475, GO:0060135, GO:0055114, GO:0048661, GO:0046427, GO:0046370, GO:0044598, GO:0044597, GO:0043066, GO:0042572, GO:0042415, GO:0035809, GO:0031098, GO:0022900, GO:0018931, GO:0009414, GO:0006700, GO:0006061, GO:0005975, GO:0003091, GO:0002070, GO:0001894, GO:0001523, cellular response to peptide, cellular response to methylglyoxal, response to thyroid hormone, metanephric collecting duct development, inner medullary collecting duct development, cellular hyperosmotic salinity response, maternal process involved in female pregnancy, oxidation-reduction process, positive regulation of smooth muscle cell proliferation, positive regulation of receptor signaling pathway via JAK-STAT, fructose biosynthetic process, doxorubicin metabolic process, daunorubicin metabolic process, negative regulation of apoptotic process, retinol metabolic process, norepinephrine metabolic process, regulation of urine volume, stress-activated protein kinase signaling cascade, electron transport chain, naphthalene metabolic process, response to water deprivation, C21-steroid hormone biosynthetic process, sorbitol biosynthetic process, carbohydrate metabolic process, renal water homeostasis, epithelial cell maturation, tissue homeostasis, retinoid metabolic process, 19 11 33 63 37 94 53 22 74 ENSG00000085719 chr8 86514427 86561498 + CPNE3 protein_coding Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008]. 8895 GO:0070062, GO:0035577, GO:0030054, GO:0005925, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, azurophil granule membrane, cell junction, focal adhesion, plasma membrane, plasma membrane, plasma membrane, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0048306, GO:0046872, GO:0030971, GO:0030971, GO:0005544, GO:0005544, GO:0005544, GO:0005515, GO:0004674, GO:0003723, calcium-dependent protein binding, metal ion binding, receptor tyrosine kinase binding, receptor tyrosine kinase binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, protein binding, protein serine/threonine kinase activity, RNA binding, GO:0071363, GO:0071277, GO:0071277, GO:0046474, GO:0043312, GO:0038128, GO:0038128, GO:0030335, GO:0006468, cellular response to growth factor stimulus, cellular response to calcium ion, cellular response to calcium ion, glycerophospholipid biosynthetic process, neutrophil degranulation, ERBB2 signaling pathway, ERBB2 signaling pathway, positive regulation of cell migration, protein phosphorylation, 437 525 513 194 305 327 231 335 222 ENSG00000085721 chr16 15060022 15094317 - RRN3 protein_coding 54700 GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleus, GO:0001181, GO:0001164, GO:0001042, RNA polymerase I general transcription initiation factor activity, RNA polymerase I core promoter sequence-specific DNA binding, RNA polymerase I core binding, GO:2000142, GO:1902254, GO:0048872, GO:0045893, GO:0042254, GO:0010976, GO:0008283, GO:0007028, GO:0007000, GO:0006361, GO:0006361, GO:0001701, GO:0001188, regulation of DNA-templated transcription, initiation, negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator, homeostasis of number of cells, positive regulation of transcription, DNA-templated, ribosome biogenesis, positive regulation of neuron projection development, cell population proliferation, cytoplasm organization, nucleolus organization, transcription initiation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, in utero embryonic development, RNA polymerase I preinitiation complex assembly, 11 0 0 2 12 1 18 1 2 ENSG00000085733 chr11 70398404 70436584 + CTTN protein_coding This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010]. 2017 GO:1990023, GO:0043231, GO:0043197, GO:0030864, GO:0030863, GO:0030427, GO:0030426, GO:0030027, GO:0030027, GO:0030027, GO:0008076, GO:0008076, GO:0005938, GO:0005938, GO:0005925, GO:0005905, GO:0005886, GO:0005886, GO:0005884, GO:0005884, GO:0005856, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0002102, GO:0001726, mitotic spindle midzone, intracellular membrane-bounded organelle, dendritic spine, cortical actin cytoskeleton, cortical cytoskeleton, site of polarized growth, growth cone, lamellipodium, lamellipodium, lamellipodium, voltage-gated potassium channel complex, voltage-gated potassium channel complex, cell cortex, cell cortex, focal adhesion, clathrin-coated pit, plasma membrane, plasma membrane, actin filament, actin filament, cytoskeleton, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, podosome, ruffle, GO:0051015, GO:0045296, GO:0005522, GO:0005515, actin filament binding, cadherin binding, profilin binding, protein binding, GO:2001237, GO:1903146, GO:0097581, GO:0097062, GO:0061024, GO:0048870, GO:0048812, GO:0048041, GO:0045987, GO:0031532, GO:0030838, GO:0030838, GO:0030833, GO:0030516, GO:0030041, GO:0006930, GO:0006898, GO:0006886, negative regulation of extrinsic apoptotic signaling pathway, regulation of autophagy of mitochondrion, lamellipodium organization, dendritic spine maintenance, membrane organization, cell motility, neuron projection morphogenesis, focal adhesion assembly, positive regulation of smooth muscle contraction, actin cytoskeleton reorganization, positive regulation of actin filament polymerization, positive regulation of actin filament polymerization, regulation of actin filament polymerization, regulation of axon extension, actin filament polymerization, substrate-dependent cell migration, cell extension, receptor-mediated endocytosis, intracellular protein transport, 1 8 2 3 0 5 2 1 0 ENSG00000085741 chr11 76186325 76210736 - WNT11 protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008]. 7481 GO:0031012, GO:0005737, GO:0005615, GO:0005576, extracellular matrix, cytoplasm, extracellular space, extracellular region, GO:0030295, GO:0005515, GO:0005125, GO:0005109, GO:0005109, GO:0005096, protein kinase activator activity, protein binding, cytokine activity, frizzled binding, frizzled binding, GTPase activator activity, GO:0090272, GO:0090090, GO:0090082, GO:0090037, GO:0072201, GO:0072177, GO:0071300, GO:0071260, GO:0070830, GO:0062009, GO:0061101, GO:0061053, GO:0061037, GO:0060775, GO:0060675, GO:0060548, GO:0060484, GO:0060412, GO:0060197, GO:0060071, GO:0060071, GO:0060070, GO:0060028, GO:0051496, GO:0048844, GO:0048706, GO:0048570, GO:0048341, GO:0045893, GO:0045892, GO:0045199, GO:0045165, GO:0043547, GO:0043066, GO:0043065, GO:0034394, GO:0032915, GO:0032147, GO:0031667, GO:0030336, GO:0030335, GO:0030325, GO:0030308, GO:0030282, GO:0030182, GO:0030182, GO:0016055, GO:0010628, GO:0007223, GO:0006468, GO:0003402, GO:0003283, GO:0003151, GO:0003139, GO:0003138, GO:0001837, GO:0001649, negative regulation of fibroblast growth factor production, negative regulation of canonical Wnt signaling pathway, positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway, positive regulation of protein kinase C signaling, negative regulation of mesenchymal cell proliferation, mesonephric duct development, cellular response to retinoic acid, cellular response to mechanical stimulus, bicellular tight junction assembly, secondary palate development, neuroendocrine cell differentiation, somite development, negative regulation of cartilage development, planar cell polarity pathway involved in gastrula mediolateral intercalation, ureteric bud morphogenesis, negative regulation of cell death, lung-associated mesenchyme development, ventricular septum morphogenesis, cloacal septation, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, convergent extension involved in axis elongation, positive regulation of stress fiber assembly, artery morphogenesis, embryonic skeletal system development, notochord morphogenesis, paraxial mesoderm formation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, maintenance of epithelial cell apical/basal polarity, cell fate commitment, positive regulation of GTPase activity, negative regulation of apoptotic process, positive regulation of apoptotic process, protein localization to cell surface, positive regulation of transforming growth factor beta2 production, activation of protein kinase activity, response to nutrient levels, negative regulation of cell migration, positive regulation of cell migration, adrenal gland development, negative regulation of cell growth, bone mineralization, neuron differentiation, neuron differentiation, Wnt signaling pathway, positive regulation of gene expression, Wnt signaling pathway, calcium modulating pathway, protein phosphorylation, planar cell polarity pathway involved in axis elongation, atrial septum development, outflow tract morphogenesis, secondary heart field specification, primary heart field specification, epithelial to mesenchymal transition, osteoblast differentiation, 0 2 1 2 0 0 3 2 0 ENSG00000085760 chr2 55236595 55269347 - MTIF2 protein_coding During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]. 4528 GO:0005739, GO:0005739, GO:0005654, mitochondrion, mitochondrion, nucleoplasm, GO:0043024, GO:0008135, GO:0005525, GO:0003924, GO:0003743, GO:0003723, ribosomal small subunit binding, translation factor activity, RNA binding, GTP binding, GTPase activity, translation initiation factor activity, RNA binding, GO:0070124, GO:0032790, GO:0006446, mitochondrial translational initiation, ribosome disassembly, regulation of translational initiation, 42 46 64 117 88 147 67 56 54 ENSG00000085788 chr8 38225218 38275558 + DDHD2 protein_coding This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 23259 GO:0034451, GO:0030134, GO:0016020, GO:0005829, GO:0005829, GO:0005794, GO:0005793, GO:0005737, centriolar satellite, COPII-coated ER to Golgi transport vesicle, membrane, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, cytoplasm, GO:0046872, GO:0004806, GO:0004620, metal ion binding, triglyceride lipase activity, phospholipase activity, GO:0090141, GO:0034389, GO:0019433, GO:0008542, GO:0007626, GO:0006654, positive regulation of mitochondrial fission, lipid droplet organization, triglyceride catabolic process, visual learning, locomotory behavior, phosphatidic acid biosynthetic process, 167 168 217 254 189 260 235 114 180 ENSG00000085831 chr1 51287258 51345116 - TTC39A protein_coding 22996 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 15 27 16 64 66 44 39 20 37 ENSG00000085832 chr1 51354263 51519328 - EPS15 protein_coding This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]. 2060 GO:0098978, GO:0060170, GO:0043231, GO:0031901, GO:0030132, GO:0030122, GO:0016324, GO:0016235, GO:0016020, GO:0009925, GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, glutamatergic synapse, ciliary membrane, intracellular membrane-bounded organelle, early endosome membrane, clathrin coat of coated pit, AP-2 adaptor complex, apical plasma membrane, aggresome, membrane, basal plasma membrane, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, GO:0045296, GO:0042802, GO:0031593, GO:0017124, GO:0005515, GO:0005509, cadherin binding, identical protein binding, polyubiquitin modification-dependent protein binding, SH3 domain binding, protein binding, calcium ion binding, GO:0061024, GO:0048268, GO:0046718, GO:0042127, GO:0042059, GO:0032456, GO:0019065, GO:0016197, GO:0016050, GO:0015031, GO:0006897, GO:0006895, GO:0001921, membrane organization, clathrin coat assembly, viral entry into host cell, regulation of cell population proliferation, negative regulation of epidermal growth factor receptor signaling pathway, endocytic recycling, receptor-mediated endocytosis of virus by host cell, endosomal transport, vesicle organization, protein transport, endocytosis, Golgi to endosome transport, positive regulation of receptor recycling, 725 771 911 523 566 648 505 458 425 ENSG00000085840 chr1 52372829 52404459 - ORC1 protein_coding The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 4998 GO:0005829, GO:0005664, GO:0005664, GO:0005654, GO:0005654, GO:0005634, GO:0000808, GO:0000781, GO:0000781, cytosol, nuclear origin of replication recognition complex, nuclear origin of replication recognition complex, nucleoplasm, nucleoplasm, nucleus, origin recognition complex, chromosome, telomeric region, chromosome, telomeric region, GO:0046872, GO:0016887, GO:0005524, GO:0005515, GO:0003688, GO:0003682, GO:0003677, metal ion binding, ATPase activity, ATP binding, protein binding, DNA replication origin binding, chromatin binding, DNA binding, GO:0033314, GO:0006270, GO:0006260, GO:0000083, GO:0000082, mitotic DNA replication checkpoint, DNA replication initiation, DNA replication, regulation of transcription involved in G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 4 10 13 6 7 9 12 2 6 ENSG00000085871 chr4 139665768 139740745 + MGST2 protein_coding The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2011]. 4258 GO:0043231, GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005783, GO:0005635, intracellular membrane-bounded organelle, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear envelope, GO:0043295, GO:0042802, GO:0042802, GO:0008047, GO:0005515, GO:0004602, GO:0004602, GO:0004464, GO:0004464, GO:0004364, GO:0004364, glutathione binding, identical protein binding, identical protein binding, enzyme activator activity, protein binding, glutathione peroxidase activity, glutathione peroxidase activity, leukotriene-C4 synthase activity, leukotriene-C4 synthase activity, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0098869, GO:0055114, GO:0050729, GO:0046466, GO:0043085, GO:0019370, GO:0019370, GO:0006805, GO:0006750, GO:0006629, glutathione derivative biosynthetic process, cellular oxidant detoxification, oxidation-reduction process, positive regulation of inflammatory response, membrane lipid catabolic process, positive regulation of catalytic activity, leukotriene biosynthetic process, leukotriene biosynthetic process, xenobiotic metabolic process, glutathione biosynthetic process, lipid metabolic process, 65 54 89 16 44 73 21 57 78 ENSG00000085872 chr19 16517889 16542530 - CHERP protein_coding 10523 GO:0048471, GO:0048471, GO:0033017, GO:0016020, GO:0005737, GO:0005654, perinuclear region of cytoplasm, perinuclear region of cytoplasm, sarcoplasmic reticulum membrane, membrane, cytoplasm, nucleoplasm, GO:0044325, GO:0005515, GO:0003723, ion channel binding, protein binding, RNA binding, GO:0070886, GO:0051209, GO:0008285, GO:0007399, GO:0006874, GO:0006874, GO:0000398, positive regulation of calcineurin-NFAT signaling cascade, release of sequestered calcium ion into cytosol, negative regulation of cell population proliferation, nervous system development, cellular calcium ion homeostasis, cellular calcium ion homeostasis, mRNA splicing, via spliceosome, 538 825 837 474 716 622 590 497 557 ENSG00000085978 chr2 233210051 233295674 + ATG16L1 protein_coding The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]. 55054 GO:0034045, GO:0005930, GO:0005829, GO:0005776, GO:0000421, phagophore assembly site membrane, axoneme, cytosol, autophagosome, autophagosome membrane, GO:0051020, GO:0042802, GO:0019787, GO:0005515, GTPase binding, identical protein binding, ubiquitin-like protein transferase activity, protein binding, GO:0039689, GO:0016236, GO:0015031, GO:0000045, GO:0000045, negative stranded viral RNA replication, macroautophagy, protein transport, autophagosome assembly, autophagosome assembly, 154 162 203 274 234 323 263 180 228 ENSG00000085982 chr2 233475520 233566782 - USP40 protein_coding Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]. 55230 GO:0005829, GO:0005634, cytosol, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0031647, GO:0016579, GO:0006511, regulation of protein stability, protein deubiquitination, ubiquitin-dependent protein catabolic process, 16 8 5 34 11 21 43 9 17 ENSG00000085998 chr1 46188682 46220305 - POMGNT1 protein_coding This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]. 55624 GO:0030173, GO:0030173, GO:0016021, GO:0000139, integral component of Golgi membrane, integral component of Golgi membrane, integral component of membrane, Golgi membrane, GO:0047223, GO:0047223, GO:0047223, GO:0030145, GO:0008375, GO:0008375, GO:0005515, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity, manganese ion binding, acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0016266, GO:0016266, GO:0006493, GO:0006493, GO:0006493, O-glycan processing, O-glycan processing, protein O-linked glycosylation, protein O-linked glycosylation, protein O-linked glycosylation, 11 10 20 52 30 62 42 15 39 ENSG00000085999 chr1 46247688 46278473 + RAD54L protein_coding The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]. 8438 GO:0032991, GO:0005654, GO:0005634, protein-containing complex, nucleoplasm, nucleus, GO:0036310, GO:0015616, GO:0005524, GO:0005515, GO:0003678, GO:0003677, annealing helicase activity, DNA translocase activity, ATP binding, protein binding, DNA helicase activity, DNA binding, GO:0051321, GO:0045003, GO:0042493, GO:0032508, GO:0010212, GO:0008340, GO:0007131, GO:0006310, GO:0006281, GO:0000733, meiotic cell cycle, double-strand break repair via synthesis-dependent strand annealing, response to drug, DNA duplex unwinding, response to ionizing radiation, determination of adult lifespan, reciprocal meiotic recombination, DNA recombination, DNA repair, DNA strand renaturation, 2 2 1 1 1 8 4 3 7 ENSG00000086015 chr1 45786987 46036124 + MAST2 protein_coding 23139 GO:0015630, GO:0005886, GO:0005737, microtubule cytoskeleton, plasma membrane, cytoplasm, GO:0106311, GO:0106310, GO:0019902, GO:0008017, GO:0005524, GO:0005515, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, phosphatase binding, microtubule binding, ATP binding, protein binding, protein serine/threonine kinase activity, magnesium ion binding, GO:0048515, GO:0035556, GO:0032655, GO:0018105, GO:0007010, GO:0006468, spermatid differentiation, intracellular signal transduction, regulation of interleukin-12 production, peptidyl-serine phosphorylation, cytoskeleton organization, protein phosphorylation, 40 44 67 53 50 55 56 40 45 ENSG00000086061 chr9 33025211 33039907 + DNAJA1 protein_coding This gene encodes a member of the DnaJ family of proteins, which act as heat shock protein 70 cochaperones. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. In humans, this gene has been implicated in positive regulation of virus replication through co-option by the influenza A virus. Several pseudogenes of this gene are found on other chromosomes. [provided by RefSeq, Sep 2015]. 3301 GO:0098554, GO:0070062, GO:0048471, GO:0016020, GO:0016020, GO:0015630, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005634, cytoplasmic side of endoplasmic reticulum membrane, extracellular exosome, perinuclear region of cytoplasm, membrane, membrane, microtubule cytoskeleton, cytosol, cytosol, cytosol, mitochondrion, nucleus, GO:0055131, GO:0051087, GO:0051087, GO:0051082, GO:0050750, GO:0046872, GO:0031625, GO:0030957, GO:0030544, GO:0005524, GO:0005515, GO:0001671, GO:0001664, C3HC4-type RING finger domain binding, chaperone binding, chaperone binding, unfolded protein binding, low-density lipoprotein particle receptor binding, metal ion binding, ubiquitin protein ligase binding, Tat protein binding, Hsp70 protein binding, ATP binding, protein binding, ATPase activator activity, G protein-coupled receptor binding, GO:1905259, GO:1903748, GO:1901998, GO:0070585, GO:0051223, GO:0043508, GO:0043066, GO:0043065, GO:0042769, GO:0032781, GO:0031397, GO:0030521, GO:0030317, GO:0009408, GO:0007283, GO:0006986, GO:0006457, negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway, negative regulation of establishment of protein localization to mitochondrion, toxin transport, protein localization to mitochondrion, regulation of protein transport, negative regulation of JUN kinase activity, negative regulation of apoptotic process, positive regulation of apoptotic process, DNA damage response, detection of DNA damage, positive regulation of ATPase activity, negative regulation of protein ubiquitination, androgen receptor signaling pathway, flagellated sperm motility, response to heat, spermatogenesis, response to unfolded protein, protein folding, 3982 4085 6376 6467 9971 7093 4421 4588 4402 ENSG00000086062 chr9 33104082 33167356 - B4GALT1 protein_coding This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]. 2683 GO:0070062, GO:0035577, GO:0032580, GO:0031526, GO:0030667, GO:0030175, GO:0030057, GO:0016323, GO:0016021, GO:0016020, GO:0009897, GO:0005886, GO:0005794, GO:0005615, GO:0000139, GO:0000138, extracellular exosome, azurophil granule membrane, Golgi cisterna membrane, brush border membrane, secretory granule membrane, filopodium, desmosome, basolateral plasma membrane, integral component of membrane, membrane, external side of plasma membrane, plasma membrane, Golgi apparatus, extracellular space, Golgi membrane, Golgi trans cisterna, GO:0035250, GO:0030145, GO:0008378, GO:0004461, GO:0004461, GO:0003945, GO:0003831, UDP-galactosyltransferase activity, manganese ion binding, galactosyltransferase activity, lactose synthase activity, lactose synthase activity, N-acetyllactosamine synthase activity, beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity, GO:0060055, GO:0060054, GO:0060046, GO:0050900, GO:0045136, GO:0043312, GO:0043065, GO:0030198, GO:0018146, GO:0009312, GO:0009312, GO:0008285, GO:0007341, GO:0007339, GO:0007155, GO:0006487, GO:0006012, GO:0005989, GO:0002526, GO:0002064, angiogenesis involved in wound healing, positive regulation of epithelial cell proliferation involved in wound healing, regulation of acrosome reaction, leukocyte migration, development of secondary sexual characteristics, neutrophil degranulation, positive regulation of apoptotic process, extracellular matrix organization, keratan sulfate biosynthetic process, oligosaccharide biosynthetic process, oligosaccharide biosynthetic process, negative regulation of cell population proliferation, penetration of zona pellucida, binding of sperm to zona pellucida, cell adhesion, protein N-linked glycosylation, galactose metabolic process, lactose biosynthetic process, acute inflammatory response, epithelial cell development, 3095 4057 5497 1329 2644 2306 1795 2020 1897 ENSG00000086065 chr9 33264879 33282069 + CHMP5 protein_coding CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]. 51510 GO:0070062, GO:0010008, GO:0005829, GO:0005829, GO:0005771, GO:0005634, extracellular exosome, endosome membrane, cytosol, cytosol, multivesicular body, nucleus, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:1904903, GO:1901673, GO:0071985, GO:0071225, GO:0071222, GO:0061952, GO:0046755, GO:0036258, GO:0032511, GO:0019058, GO:0016197, GO:0015031, GO:0010824, GO:0008333, GO:0007080, GO:0007040, GO:0006997, GO:0006900, GO:0001919, ESCRT III complex disassembly, regulation of mitotic spindle assembly, multivesicular body sorting pathway, cellular response to muramyl dipeptide, cellular response to lipopolysaccharide, midbody abscission, viral budding, multivesicular body assembly, late endosome to vacuole transport via multivesicular body sorting pathway, viral life cycle, endosomal transport, protein transport, regulation of centrosome duplication, endosome to lysosome transport, mitotic metaphase plate congression, lysosome organization, nucleus organization, vesicle budding from membrane, regulation of receptor recycling, 859 761 934 338 619 436 465 494 429 ENSG00000086102 chr9 33290511 33371157 + NFX1 protein_coding MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]. 4799 GO:0005886, GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0000785, plasma membrane, cytosol, nucleolus, nucleoplasm, nucleus, chromatin, GO:0061630, GO:0061630, GO:0008270, GO:0005515, GO:0003723, GO:0001227, GO:0000981, GO:0000977, GO:0000977, ubiquitin protein ligase activity, ubiquitin protein ligase activity, zinc ion binding, protein binding, RNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0051865, GO:0045347, GO:0016567, GO:0016032, GO:0006954, GO:0006366, GO:0006355, GO:0000122, GO:0000122, protein autoubiquitination, negative regulation of MHC class II biosynthetic process, protein ubiquitination, viral process, inflammatory response, transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 286 356 489 234 259 240 207 191 188 ENSG00000086159 chr12 49967194 49977139 + AQP6 protein_coding The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]. 363 GO:0030659, GO:0016324, GO:0016021, GO:0005887, GO:0005886, cytoplasmic vesicle membrane, apical plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0015250, GO:0015112, GO:0005515, water channel activity, nitrate transmembrane transporter activity, protein binding, GO:0055085, GO:0042476, GO:0015706, GO:0015670, GO:0007588, GO:0006833, transmembrane transport, odontogenesis, nitrate transport, carbon dioxide transport, excretion, water transport, 0 0 0 0 0 0 0 0 4 ENSG00000086189 chr5 62387254 62403939 - DIMT1 protein_coding The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017]. 27292 GO:0005829, GO:0005759, GO:0005730, GO:0005654, GO:0005654, cytosol, mitochondrial matrix, nucleolus, nucleoplasm, nucleoplasm, GO:0052909, GO:0003723, GO:0000179, GO:0000179, GO:0000179, 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity, RNA binding, rRNA (adenine-N6,N6-)-dimethyltransferase activity, rRNA (adenine-N6,N6-)-dimethyltransferase activity, rRNA (adenine-N6,N6-)-dimethyltransferase activity, GO:2000234, GO:0031167, GO:0031167, GO:0031167, positive regulation of rRNA processing, rRNA methylation, rRNA methylation, rRNA methylation, 57 27 75 95 57 151 66 33 98 ENSG00000086200 chr5 62403972 62628582 + IPO11 protein_coding Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]. 51194 GO:0005829, GO:0005829, GO:0005654, GO:0005635, cytosol, cytosol, nucleoplasm, nuclear envelope, GO:0061608, GO:0031267, GO:0005515, nuclear import signal receptor activity, small GTPase binding, protein binding, GO:0006610, GO:0006606, ribosomal protein import into nucleus, protein import into nucleus, 65 57 43 47 47 40 35 44 10 ENSG00000086205 chr11 49146635 49208670 - FOLH1 protein_coding This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]. 2346 GO:0070062, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, extracellular exosome, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:1904493, GO:1904492, GO:0046872, GO:0016805, GO:0008233, GO:0004181, GO:0004180, tetrahydrofolyl-poly(glutamate) polymer binding, Ac-Asp-Glu binding, metal ion binding, dipeptidase activity, peptidase activity, metallocarboxypeptidase activity, carboxypeptidase activity, GO:0035609, GO:0008652, GO:0006760, GO:0006508, GO:0006508, C-terminal protein deglutamylation, cellular amino acid biosynthetic process, folic acid-containing compound metabolic process, proteolysis, proteolysis, 0 0 0 0 0 0 0 0 2 ENSG00000086232 chr7 6022244 6059230 - EIF2AK1 protein_coding The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 27102 GO:0106311, GO:0106310, GO:0042803, GO:0020037, GO:0005524, GO:0005515, GO:0004694, GO:0004672, protein threonine kinase activity, protein serine kinase activity, protein homodimerization activity, heme binding, ATP binding, protein binding, eukaryotic translation initiation factor 2alpha kinase activity, protein kinase activity, GO:1990641, GO:0140468, GO:0140467, GO:0046986, GO:0046777, GO:0045993, GO:0010998, response to iron ion starvation, HRI-mediated signaling, integrated stress response signaling, negative regulation of hemoglobin biosynthetic process, protein autophosphorylation, negative regulation of translational initiation by iron, regulation of translational initiation by eIF2 alpha phosphorylation, 263 255 236 217 226 243 251 195 227 ENSG00000086288 chr7 37848597 37900401 + NME8 protein_coding This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]. 51314 GO:0097598, GO:0097228, GO:0097225, GO:0036157, GO:0005930, GO:0005737, GO:0005737, GO:0005634, sperm cytoplasmic droplet, sperm principal piece, sperm midpiece, outer dynein arm, axoneme, cytoplasm, cytoplasm, nucleus, GO:0008017, microtubule binding, GO:0060271, GO:0034614, GO:0030317, GO:0030154, GO:0007283, GO:0007275, cilium assembly, cellular response to reactive oxygen species, flagellated sperm motility, cell differentiation, spermatogenesis, multicellular organism development, 66 117 148 167 216 263 143 113 196 ENSG00000086289 chr7 37683843 37951941 + EPDR1 protein_coding The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]. 54749 GO:0043202, GO:0005764, GO:0005764, GO:0005576, lysosomal lumen, lysosome, lysosome, extracellular region, GO:1905573, GO:0042802, GO:0005543, GO:0005515, GO:0005509, ganglioside GM1 binding, identical protein binding, phospholipid binding, protein binding, calcium ion binding, GO:1990764, GO:0007160, myofibroblast contraction, cell-matrix adhesion, 0 0 0 3 1 5 2 5 0 ENSG00000086300 chr7 26291895 26374329 + SNX10 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. 29887 GO:0090651, GO:0031313, GO:0030141, GO:0005813, GO:0005783, GO:0005634, apical cytoplasm, extrinsic component of endosome membrane, secretory granule, centrosome, endoplasmic reticulum, nucleus, GO:0051117, GO:0005545, GO:0005515, ATPase binding, 1-phosphatidylinositol binding, protein binding, GO:1990830, GO:0097178, GO:0071539, GO:0061512, GO:0060271, GO:0055074, GO:0045453, GO:0044691, GO:0035630, GO:0030316, GO:0007032, GO:0006897, GO:0006886, GO:0001696, cellular response to leukemia inhibitory factor, ruffle assembly, protein localization to centrosome, protein localization to cilium, cilium assembly, calcium ion homeostasis, bone resorption, tooth eruption, bone mineralization involved in bone maturation, osteoclast differentiation, endosome organization, endocytosis, intracellular protein transport, gastric acid secretion, 2331 1998 2354 972 2022 1406 1267 1704 1124 ENSG00000086475 chr10 13317424 13348298 - SEPHS1 protein_coding This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]. 22929 GO:0031965, GO:0005886, GO:0005737, nuclear membrane, plasma membrane, cytoplasm, GO:0046872, GO:0042802, GO:0005525, GO:0005524, GO:0005515, GO:0004756, metal ion binding, identical protein binding, GTP binding, ATP binding, protein binding, selenide, water dikinase activity, GO:0016310, GO:0016260, GO:0006464, phosphorylation, selenocysteine biosynthetic process, cellular protein modification process, 21 14 22 54 19 47 41 16 30 ENSG00000086504 chr16 366969 371289 - MRPL28 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008]. 10573 GO:0005829, GO:0005762, GO:0005762, GO:0005761, GO:0005761, GO:0005743, GO:0005739, cytosol, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 292 272 265 134 187 156 111 151 147 ENSG00000086506 chr16 180453 181181 + HBQ1 protein_coding Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]. 3049 GO:0031838, GO:0005833, haptoglobin-hemoglobin complex, hemoglobin complex, GO:0043177, GO:0031720, GO:0020037, GO:0019825, GO:0005515, GO:0005506, GO:0005344, GO:0004601, organic acid binding, haptoglobin binding, heme binding, oxygen binding, protein binding, iron ion binding, oxygen carrier activity, peroxidase activity, GO:0098869, GO:0042744, GO:0015671, cellular oxidant detoxification, hydrogen peroxide catabolic process, oxygen transport, 0 0 0 0 0 0 0 0 1 ENSG00000086544 chr19 40717103 40740860 + ITPKC protein_coding This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]. 80271 GO:0016607, GO:0005829, GO:0005737, GO:0005634, nuclear speck, cytosol, cytoplasm, nucleus, GO:0016301, GO:0008440, GO:0005524, GO:0005516, GO:0000828, kinase activity, inositol-1,4,5-trisphosphate 3-kinase activity, ATP binding, calmodulin binding, inositol hexakisphosphate kinase activity, GO:0046854, GO:0043647, GO:0032958, phosphatidylinositol phosphorylation, inositol phosphate metabolic process, inositol phosphate biosynthetic process, 657 519 959 231 185 295 206 165 209 ENSG00000086548 chr19 41750977 41772208 + CEACAM6 protein_coding This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]. 4680 GO:0035577, GO:0031225, GO:0016324, GO:0009986, GO:0009986, GO:0005886, GO:0005615, azurophil granule membrane, anchored component of membrane, apical plasma membrane, cell surface, cell surface, plasma membrane, extracellular space, GO:0046982, GO:0042802, GO:0042802, GO:0005515, protein heterodimerization activity, identical protein binding, identical protein binding, protein binding, GO:2000811, GO:1904906, GO:0050900, GO:0043312, GO:0034116, GO:0030335, GO:0008284, GO:0007165, GO:0007157, GO:0007156, GO:0006915, negative regulation of anoikis, positive regulation of endothelial cell-matrix adhesion via fibronectin, leukocyte migration, neutrophil degranulation, positive regulation of heterotypic cell-cell adhesion, positive regulation of cell migration, positive regulation of cell population proliferation, signal transduction, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, apoptotic process, 5 7 18 2 6 15 2 8 1 ENSG00000086570 chr5 151504093 151568944 - FAT2 protein_coding This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]. 2196 GO:0070062, GO:0016021, GO:0005912, GO:0005912, GO:0005886, GO:0005794, extracellular exosome, integral component of membrane, adherens junction, adherens junction, plasma membrane, Golgi apparatus, GO:0005509, calcium ion binding, GO:0098609, GO:0031589, GO:0010631, GO:0010631, GO:0007156, cell-cell adhesion, cell-substrate adhesion, epithelial cell migration, epithelial cell migration, homophilic cell adhesion via plasma membrane adhesion molecules, 5 5 11 8 22 43 7 11 20 ENSG00000086589 chr5 150690794 150701107 - RBM22 protein_coding This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]. 55696 GO:0071013, GO:0071007, GO:0071007, GO:0071006, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000974, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, Prp19 complex, GO:0048306, GO:0046872, GO:0036002, GO:0036002, GO:0017070, GO:0017070, GO:0005515, GO:0003723, calcium-dependent protein binding, metal ion binding, pre-mRNA binding, pre-mRNA binding, U6 snRNA binding, U6 snRNA binding, protein binding, RNA binding, GO:0046827, GO:0045292, GO:0042307, GO:0035690, GO:0033120, GO:0000398, GO:0000398, positive regulation of protein export from nucleus, mRNA cis splicing, via spliceosome, positive regulation of protein import into nucleus, cellular response to drug, positive regulation of RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1308 1537 1788 986 1543 1289 1031 1149 1155 ENSG00000086598 chr12 123584531 123598577 + TMED2 protein_coding 10959 GO:0043231, GO:0042589, GO:0033116, GO:0032580, GO:0030663, GO:0030137, GO:0030134, GO:0030133, GO:0016021, GO:0012507, GO:0005794, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005783, GO:0005783, GO:0000139, intracellular membrane-bounded organelle, zymogen granule membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, Golgi cisterna membrane, COPI-coated vesicle membrane, COPI-coated vesicle, COPII-coated ER to Golgi transport vesicle, transport vesicle, integral component of membrane, ER to Golgi transport vesicle membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:2000638, GO:1903912, GO:0090158, GO:0072659, GO:0060716, GO:0048208, GO:0048205, GO:0036499, GO:0036342, GO:0035459, GO:0035264, GO:0034260, GO:0032525, GO:0010628, GO:0007030, GO:0007030, GO:0006890, GO:0006888, GO:0006888, GO:0006886, GO:0006886, GO:0001947, GO:0001893, GO:0001843, regulation of SREBP signaling pathway, negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation, endoplasmic reticulum membrane organization, protein localization to plasma membrane, labyrinthine layer blood vessel development, COPII vesicle coating, COPI coating of Golgi vesicle, PERK-mediated unfolded protein response, post-anal tail morphogenesis, vesicle cargo loading, multicellular organism growth, negative regulation of GTPase activity, somite rostral/caudal axis specification, positive regulation of gene expression, Golgi organization, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, intracellular protein transport, heart looping, maternal placenta development, neural tube closure, 1049 874 960 370 516 397 351 471 339 ENSG00000086619 chr1 236215555 236281985 - ERO1B protein_coding 56605 GO:0005789, GO:0005783, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0051082, GO:0016972, GO:0016671, GO:0016491, GO:0015035, GO:0005515, GO:0003756, unfolded protein binding, thiol oxidase activity, oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor, oxidoreductase activity, protein disulfide oxidoreductase activity, protein binding, protein disulfide isomerase activity, GO:0055114, GO:0045454, GO:0042593, GO:0034975, GO:0030198, GO:0030070, GO:0022417, GO:0018401, GO:0006457, oxidation-reduction process, cell redox homeostasis, glucose homeostasis, protein folding in endoplasmic reticulum, extracellular matrix organization, insulin processing, protein maturation by protein folding, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, protein folding, 225 270 321 241 297 301 267 224 241 ENSG00000086666 chr15 80059568 80138393 + ZFAND6 protein_coding 54469 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0031593, GO:0031593, GO:0008270, GO:0005515, GO:0003677, GO:0003674, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, zinc ion binding, protein binding, DNA binding, molecular_function, GO:0071356, GO:0043122, GO:0043066, GO:0006915, GO:0006625, GO:0006625, GO:0006625, cellular response to tumor necrosis factor, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, apoptotic process, protein targeting to peroxisome, protein targeting to peroxisome, protein targeting to peroxisome, 1669 1310 2068 750 1163 1131 855 827 923 ENSG00000086696 chr16 82035004 82098534 + HSD17B2 protein_coding 3294 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0047035, GO:0047006, GO:0004303, GO:0004303, testosterone dehydrogenase (NAD+) activity, 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity, estradiol 17-beta-dehydrogenase activity, estradiol 17-beta-dehydrogenase activity, GO:0055114, GO:0032526, GO:0006703, GO:0001890, GO:0001701, oxidation-reduction process, response to retinoic acid, estrogen biosynthetic process, placenta development, in utero embryonic development, 0 0 0 0 0 0 0 0 0 ENSG00000086712 chrX 16786427 16844519 + TXLNG protein_coding This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 55787 GO:0031965, GO:0005829, nuclear membrane, cytosol, GO:0033613, GO:0019905, GO:0008134, activating transcription factor binding, syntaxin binding, transcription factor binding, GO:0051726, GO:0051726, GO:0030500, GO:0010564, GO:0007049, regulation of cell cycle, regulation of cell cycle, regulation of bone mineralization, regulation of cell cycle process, cell cycle, 126 166 295 191 126 190 177 113 173 ENSG00000086717 chrX 18675909 18827921 + PPEF1 protein_coding This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]. 5475 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0106307, GO:0106306, GO:0030145, GO:0005515, GO:0005509, GO:0005506, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, manganese ion binding, protein binding, calcium ion binding, iron ion binding, protein serine/threonine phosphatase activity, GO:0050906, GO:0022400, GO:0006470, detection of stimulus involved in sensory perception, regulation of rhodopsin mediated signaling pathway, protein dephosphorylation, 18 14 6 1 8 18 3 9 12 ENSG00000086730 chr7 74199652 74229834 + LAT2 protein_coding This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]. 7462 GO:0070062, GO:0045121, GO:0016021, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, membrane raft, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0042169, GO:0042169, GO:0005515, SH2 domain binding, SH2 domain binding, protein binding, GO:0050853, GO:0050853, GO:0043303, GO:0042113, GO:0042113, GO:0042113, GO:0038095, GO:0035556, GO:0019722, GO:0019722, GO:0002250, B cell receptor signaling pathway, B cell receptor signaling pathway, mast cell degranulation, B cell activation, B cell activation, B cell activation, Fc-epsilon receptor signaling pathway, intracellular signal transduction, calcium-mediated signaling, calcium-mediated signaling, adaptive immune response, 3064 2809 4594 1166 2329 1987 1455 2189 1766 ENSG00000086758 chrX 53532096 53686729 - HUWE1 protein_coding This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]. 10075 GO:1904813, GO:0070062, GO:0034774, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000139, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular region, Golgi membrane, GO:0061630, GO:0061630, GO:0005515, GO:0004842, GO:0003723, GO:0003677, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein binding, ubiquitin-protein transferase activity, RNA binding, DNA binding, GO:1903955, GO:0098779, GO:0061025, GO:0045732, GO:0043312, GO:0043161, GO:0032922, GO:0031398, GO:0030154, GO:0016574, GO:0016567, GO:0010637, GO:0007030, GO:0006513, GO:0006284, GO:0006284, GO:0000209, GO:0000209, GO:0000209, positive regulation of protein targeting to mitochondrion, positive regulation of mitophagy in response to mitochondrial depolarization, membrane fusion, positive regulation of protein catabolic process, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, circadian regulation of gene expression, positive regulation of protein ubiquitination, cell differentiation, histone ubiquitination, protein ubiquitination, negative regulation of mitochondrial fusion, Golgi organization, protein monoubiquitination, base-excision repair, base-excision repair, protein polyubiquitination, protein polyubiquitination, protein polyubiquitination, 1238 1292 1847 889 883 950 987 580 859 ENSG00000086827 chr11 113733187 113773811 - ZW10 protein_coding This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]. 9183 GO:1990423, GO:1990423, GO:0070939, GO:0016020, GO:0005829, GO:0005829, GO:0005828, GO:0005811, GO:0005789, GO:0005783, GO:0005634, GO:0000922, GO:0000777, GO:0000776, RZZ complex, RZZ complex, Dsl1/NZR complex, membrane, cytosol, cytosol, kinetochore microtubule, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, spindle pole, condensed chromosome kinetochore, kinetochore, GO:0019237, GO:0005515, centromeric DNA binding, protein binding, GO:0065003, GO:0051321, GO:0051301, GO:0034501, GO:0015031, GO:0007096, GO:0007094, GO:0007093, GO:0007080, GO:0007030, GO:0007030, GO:0006890, GO:0006888, GO:0006888, GO:0000132, GO:0000070, protein-containing complex assembly, meiotic cell cycle, cell division, protein localization to kinetochore, protein transport, regulation of exit from mitosis, mitotic spindle assembly checkpoint, mitotic cell cycle checkpoint, mitotic metaphase plate congression, Golgi organization, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, establishment of mitotic spindle orientation, mitotic sister chromatid segregation, 13 19 21 31 18 31 33 15 10 ENSG00000086848 chr11 111782195 111871581 - ALG9 protein_coding This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 79796 GO:0016021, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0052926, GO:0052918, GO:0000030, GO:0000026, GO:0000026, dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity, dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity, mannosyltransferase activity, alpha-1,2-mannosyltransferase activity, alpha-1,2-mannosyltransferase activity, GO:0097502, GO:0006488, GO:0006487, mannosylation, dolichol-linked oligosaccharide biosynthetic process, protein N-linked glycosylation, 7 4 13 15 4 15 7 0 5 ENSG00000086967 chr19 50432903 50466321 + MYBPC2 protein_coding This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]. 4606 GO:0032982, GO:0005829, myosin filament, cytosol, GO:0008307, GO:0005515, GO:0003779, structural constituent of muscle, protein binding, actin binding, GO:0030049, GO:0007155, muscle filament sliding, cell adhesion, 0 1 0 0 0 2 0 0 0 ENSG00000086991 chr11 89324356 89498187 - NOX4 protein_coding This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]. 50507 GO:0097038, GO:0048471, GO:0043020, GO:0016324, GO:0016021, GO:0005925, GO:0005886, GO:0005789, GO:0005739, GO:0005730, GO:0005654, GO:0005634, GO:0001725, perinuclear endoplasmic reticulum, perinuclear region of cytoplasm, NADPH oxidase complex, apical plasma membrane, integral component of membrane, focal adhesion, plasma membrane, endoplasmic reticulum membrane, mitochondrion, nucleolus, nucleoplasm, nucleus, stress fiber, GO:1990782, GO:0072341, GO:0050660, GO:0020037, GO:0019826, GO:0016175, GO:0016174, GO:0009055, GO:0005515, GO:0000166, protein tyrosine kinase binding, modified amino acid binding, flavin adenine dinucleotide binding, heme binding, oxygen sensor activity, superoxide-generating NAD(P)H oxidase activity, NAD(P)H oxidase H2O2-forming activity, electron transfer activity, protein binding, nucleotide binding, GO:2000573, GO:2000379, GO:1903409, GO:0072593, GO:0071560, GO:0071480, GO:0071333, GO:0071320, GO:0070374, GO:0061098, GO:0055114, GO:0055114, GO:0055007, GO:0051897, GO:0051496, GO:0050667, GO:0045453, GO:0043406, GO:0043065, GO:0042554, GO:0042554, GO:0034599, GO:0022900, GO:0014911, GO:0010467, GO:0008285, GO:0007569, GO:0006954, GO:0006952, GO:0006801, GO:0003015, GO:0001666, GO:0000902, positive regulation of DNA biosynthetic process, positive regulation of reactive oxygen species metabolic process, reactive oxygen species biosynthetic process, reactive oxygen species metabolic process, cellular response to transforming growth factor beta stimulus, cellular response to gamma radiation, cellular response to glucose stimulus, cellular response to cAMP, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein tyrosine kinase activity, oxidation-reduction process, oxidation-reduction process, cardiac muscle cell differentiation, positive regulation of protein kinase B signaling, positive regulation of stress fiber assembly, homocysteine metabolic process, bone resorption, positive regulation of MAP kinase activity, positive regulation of apoptotic process, superoxide anion generation, superoxide anion generation, cellular response to oxidative stress, electron transport chain, positive regulation of smooth muscle cell migration, gene expression, negative regulation of cell population proliferation, cell aging, inflammatory response, defense response, superoxide metabolic process, heart process, response to hypoxia, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000087008 chr4 8366282 8440723 - ACOX3 protein_coding Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]. 8310 GO:0016020, GO:0005829, GO:0005782, GO:0005777, GO:0005777, membrane, cytosol, peroxisomal matrix, peroxisome, peroxisome, GO:0071949, GO:0050660, GO:0016402, GO:0005504, GO:0003997, FAD binding, flavin adenine dinucleotide binding, pristanoyl-CoA oxidase activity, fatty acid binding, acyl-CoA oxidase activity, GO:0055088, GO:0033540, GO:0033540, GO:0033540, GO:0006625, lipid homeostasis, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, protein targeting to peroxisome, 40 47 43 36 37 12 28 22 20 ENSG00000087053 chr11 95832882 95925315 - MTMR2 protein_coding This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 8898 GO:0097060, GO:0070062, GO:0048471, GO:0043231, GO:0043197, GO:0031901, GO:0030425, GO:0030424, GO:0016020, GO:0014069, GO:0008021, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, synaptic membrane, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, dendritic spine, early endosome membrane, dendrite, axon, membrane, postsynaptic density, synaptic vesicle, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0052629, GO:0052629, GO:0008138, GO:0005515, GO:0004725, GO:0004438, GO:0004438, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphatidylinositol-3-phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:2000645, GO:2000643, GO:0097062, GO:0090394, GO:0060304, GO:0046856, GO:0046856, GO:0045806, GO:0035335, GO:0006661, GO:0006470, GO:0002091, negative regulation of receptor catabolic process, positive regulation of early endosome to late endosome transport, dendritic spine maintenance, negative regulation of excitatory postsynaptic potential, regulation of phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, negative regulation of endocytosis, peptidyl-tyrosine dephosphorylation, phosphatidylinositol biosynthetic process, protein dephosphorylation, negative regulation of receptor internalization, 19 21 34 52 18 32 46 22 71 ENSG00000087074 chr19 48872392 48876057 + PPP1R15A protein_coding This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]. 23645 GO:0016020, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0005741, GO:0005739, GO:0005737, GO:0000164, GO:0000164, membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, mitochondrial outer membrane, mitochondrion, cytoplasm, protein phosphatase type 1 complex, protein phosphatase type 1 complex, GO:0072542, GO:0019901, GO:0019888, GO:0019888, GO:0008157, GO:0008157, GO:0005515, protein phosphatase activator activity, protein kinase binding, protein phosphatase regulator activity, protein phosphatase regulator activity, protein phosphatase 1 binding, protein phosphatase 1 binding, protein binding, GO:1903917, GO:1903917, GO:1903898, GO:1902310, GO:0070972, GO:0070059, GO:0036496, GO:0035308, GO:0034976, GO:0034976, GO:0032516, GO:0032516, GO:0032515, GO:0032058, GO:0007050, GO:0006974, GO:0006915, positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation, positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation, negative regulation of PERK-mediated unfolded protein response, positive regulation of peptidyl-serine dephosphorylation, protein localization to endoplasmic reticulum, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, regulation of translational initiation by eIF2 alpha dephosphorylation, negative regulation of protein dephosphorylation, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, positive regulation of phosphoprotein phosphatase activity, positive regulation of phosphoprotein phosphatase activity, negative regulation of phosphoprotein phosphatase activity, positive regulation of translational initiation in response to stress, cell cycle arrest, cellular response to DNA damage stimulus, apoptotic process, 3016 7106 6764 32629 59870 58283 40590 50848 55897 ENSG00000087076 chr19 48813017 48836678 - HSD17B14 protein_coding 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]. 51171 GO:0005829, GO:0005829, cytosol, cytosol, GO:0047045, GO:0042802, GO:0005515, GO:0004303, testosterone 17-beta-dehydrogenase (NADP+) activity, identical protein binding, protein binding, estradiol 17-beta-dehydrogenase activity, GO:0055114, GO:0006706, GO:0006703, oxidation-reduction process, steroid catabolic process, estrogen biosynthetic process, 0 0 1 0 0 0 1 0 0 ENSG00000087077 chr7 100867138 100873454 + TRIP6 protein_coding This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 7205 GO:0005925, GO:0005925, GO:0005925, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005634, GO:0001725, focal adhesion, focal adhesion, focal adhesion, plasma membrane, cytoskeleton, cytosol, cytoplasm, nucleus, stress fiber, GO:0046966, GO:0046872, GO:0019900, GO:0005515, GO:0005149, GO:0003723, thyroid hormone receptor binding, metal ion binding, kinase binding, protein binding, interleukin-1 receptor binding, RNA binding, GO:1901224, GO:1901224, GO:0048041, GO:0030335, GO:0007165, positive regulation of NIK/NF-kappaB signaling, positive regulation of NIK/NF-kappaB signaling, focal adhesion assembly, positive regulation of cell migration, signal transduction, 54 47 61 122 125 139 108 84 98 ENSG00000087085 chr7 100889994 100896974 - ACHE protein_coding Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]. 43 GO:0048471, GO:0045202, GO:0043083, GO:0031594, GO:0031225, GO:0016020, GO:0009986, GO:0005886, GO:0005794, GO:0005634, GO:0005615, GO:0005604, GO:0005576, GO:0005576, perinuclear region of cytoplasm, synapse, synaptic cleft, neuromuscular junction, anchored component of membrane, membrane, cell surface, plasma membrane, Golgi apparatus, nucleus, extracellular space, basement membrane, extracellular region, extracellular region, GO:0052689, GO:0043621, GO:0043236, GO:0042803, GO:0042166, GO:0042166, GO:0017171, GO:0016787, GO:0005518, GO:0005515, GO:0004104, GO:0003990, GO:0003990, GO:0001540, carboxylic ester hydrolase activity, protein self-association, laminin binding, protein homodimerization activity, acetylcholine binding, acetylcholine binding, serine hydrolase activity, hydrolase activity, collagen binding, protein binding, cholinesterase activity, acetylcholinesterase activity, acetylcholinesterase activity, amyloid-beta binding, GO:0120162, GO:0060041, GO:0050714, GO:0042982, GO:0042136, GO:0032223, GO:0031623, GO:0007416, GO:0007399, GO:0007155, GO:0006656, GO:0006581, GO:0002076, GO:0001919, GO:0001507, positive regulation of cold-induced thermogenesis, retina development in camera-type eye, positive regulation of protein secretion, amyloid precursor protein metabolic process, neurotransmitter biosynthetic process, negative regulation of synaptic transmission, cholinergic, receptor internalization, synapse assembly, nervous system development, cell adhesion, phosphatidylcholine biosynthetic process, acetylcholine catabolic process, osteoblast development, regulation of receptor recycling, acetylcholine catabolic process in synaptic cleft, 0 0 0 0 0 0 0 0 0 ENSG00000087086 chr19 48965301 48966878 + FTL protein_coding This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]. 2512 GO:0070062, GO:0044754, GO:0035578, GO:0016020, GO:0008043, GO:0005829, GO:0005737, GO:0005576, extracellular exosome, autolysosome, azurophil granule lumen, membrane, intracellular ferritin complex, cytosol, cytoplasm, extracellular region, GO:0042802, GO:0008199, GO:0008198, GO:0005515, GO:0005506, identical protein binding, ferric iron binding, ferrous iron binding, protein binding, iron ion binding, GO:0055072, GO:0043312, GO:0006880, GO:0006879, GO:0006826, iron ion homeostasis, neutrophil degranulation, intracellular sequestering of iron ion, cellular iron ion homeostasis, iron ion transport, 36482 44925 46514 110249 183829 147496 92987 136163 114367 ENSG00000087087 chr7 100875111 100888664 + SRRT protein_coding 51593 GO:0032991, GO:0016604, GO:0005737, GO:0005654, GO:0005654, GO:0005654, protein-containing complex, nuclear body, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, GO:0003677, protein binding, RNA binding, DNA binding, GO:0097150, GO:0050769, GO:0046685, GO:0042795, GO:0031053, GO:0031053, GO:0006355, GO:0000398, neuronal stem cell population maintenance, positive regulation of neurogenesis, response to arsenic-containing substance, snRNA transcription by RNA polymerase II, primary miRNA processing, primary miRNA processing, regulation of transcription, DNA-templated, mRNA splicing, via spliceosome, 927 960 1015 1369 1478 1112 1236 1073 888 ENSG00000087088 chr19 48954815 48961798 + BAX protein_coding The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Dec 2019]. 581 GO:0097145, GO:0097144, GO:0097136, GO:0071944, GO:0070062, GO:0046930, GO:0016020, GO:0005829, GO:0005829, GO:0005789, GO:0005783, GO:0005757, GO:0005741, GO:0005741, GO:0005741, GO:0005739, GO:0005737, GO:0005635, GO:0005634, GO:0005634, BAK complex, BAX complex, Bcl-2 family protein complex, cell periphery, extracellular exosome, pore complex, membrane, cytosol, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial permeability transition pore complex, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, nuclear envelope, nucleus, nucleus, GO:0051434, GO:0051434, GO:0051087, GO:0046982, GO:0046982, GO:0042803, GO:0042803, GO:0042802, GO:0030544, GO:0015267, GO:0015267, GO:0008289, GO:0005515, BH3 domain binding, BH3 domain binding, chaperone binding, protein heterodimerization activity, protein heterodimerization activity, protein homodimerization activity, protein homodimerization activity, identical protein binding, Hsp70 protein binding, channel activity, channel activity, lipid binding, protein binding, GO:2001244, GO:2001234, GO:1990117, GO:1903896, GO:1902512, GO:1902445, GO:1902263, GO:1902262, GO:1901030, GO:1900103, GO:0097296, GO:0097193, GO:0097192, GO:0097191, GO:0097190, GO:0090200, GO:0090200, GO:0072332, GO:0070584, GO:0070242, GO:0070059, GO:0070059, GO:0060068, GO:0060058, GO:0060041, GO:0060011, GO:0051881, GO:0051402, GO:0051281, GO:0048873, GO:0048678, GO:0048597, GO:0048515, GO:0048147, GO:0048087, GO:0046666, GO:0045136, GO:0043653, GO:0043525, GO:0043524, GO:0043065, GO:0043065, GO:0043065, GO:0042981, GO:0042475, GO:0035234, GO:0034644, GO:0034620, GO:0033599, GO:0033137, GO:0032976, GO:0032471, GO:0032469, GO:0032091, GO:0031334, GO:0021987, GO:0021854, GO:0016032, GO:0010917, GO:0010332, GO:0010248, GO:0009651, GO:0009636, GO:0009566, GO:0008637, GO:0008635, GO:0008630, GO:0008625, GO:0008053, GO:0008053, GO:0007281, GO:0006977, GO:0006919, GO:0006919, GO:0006915, GO:0006915, GO:0006915, GO:0006808, GO:0006687, GO:0006367, GO:0002904, GO:0002358, GO:0002352, GO:0002262, GO:0001974, GO:0001844, GO:0001836, GO:0001836, GO:0001822, GO:0001783, GO:0001782, GO:0001777, GO:0001764, GO:0001541, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of apoptotic signaling pathway, B cell receptor apoptotic signaling pathway, positive regulation of IRE1-mediated unfolded protein response, positive regulation of apoptotic DNA fragmentation, regulation of mitochondrial membrane permeability involved in programmed necrotic cell death, apoptotic process involved in embryonic digit morphogenesis, apoptotic process involved in blood vessel morphogenesis, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, positive regulation of endoplasmic reticulum unfolded protein response, activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, intrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, positive regulation of release of cytochrome c from mitochondria, positive regulation of release of cytochrome c from mitochondria, intrinsic apoptotic signaling pathway by p53 class mediator, mitochondrion morphogenesis, thymocyte apoptotic process, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, vagina development, positive regulation of apoptotic process involved in mammary gland involution, retina development in camera-type eye, Sertoli cell proliferation, regulation of mitochondrial membrane potential, neuron apoptotic process, positive regulation of release of sequestered calcium ion into cytosol, homeostasis of number of cells within a tissue, response to axon injury, post-embryonic camera-type eye morphogenesis, spermatid differentiation, negative regulation of fibroblast proliferation, positive regulation of developmental pigmentation, retinal cell programmed cell death, development of secondary sexual characteristics, mitochondrial fragmentation involved in apoptotic process, positive regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, odontogenesis of dentin-containing tooth, ectopic germ cell programmed cell death, cellular response to UV, cellular response to unfolded protein, regulation of mammary gland epithelial cell proliferation, negative regulation of peptidyl-serine phosphorylation, release of matrix enzymes from mitochondria, negative regulation of endoplasmic reticulum calcium ion concentration, endoplasmic reticulum calcium ion homeostasis, negative regulation of protein binding, positive regulation of protein-containing complex assembly, cerebral cortex development, hypothalamus development, viral process, negative regulation of mitochondrial membrane potential, response to gamma radiation, establishment or maintenance of transmembrane electrochemical gradient, response to salt stress, response to toxic substance, fertilization, apoptotic mitochondrial changes, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, intrinsic apoptotic signaling pathway in response to DNA damage, extrinsic apoptotic signaling pathway via death domain receptors, mitochondrial fusion, mitochondrial fusion, germ cell development, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, apoptotic process, apoptotic process, regulation of nitrogen utilization, glycosphingolipid metabolic process, transcription initiation from RNA polymerase II promoter, positive regulation of B cell apoptotic process, B cell homeostatic proliferation, B cell negative selection, myeloid cell homeostasis, blood vessel remodeling, protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, release of cytochrome c from mitochondria, release of cytochrome c from mitochondria, kidney development, B cell apoptotic process, B cell homeostasis, T cell homeostatic proliferation, neuron migration, ovarian follicle development, 391 463 430 413 610 411 405 495 407 ENSG00000087095 chr17 28041737 28196381 + NLK protein_coding 51701 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0042169, GO:0031625, GO:0008134, GO:0005524, GO:0005515, GO:0004707, GO:0004707, GO:0004674, GO:0004672, GO:0000287, SH2 domain binding, ubiquitin protein ligase binding, transcription factor binding, ATP binding, protein binding, MAP kinase activity, MAP kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:0050821, GO:0046777, GO:0042501, GO:0035556, GO:0035556, GO:0030178, GO:0018107, GO:0010468, GO:0007223, GO:0007179, GO:0006468, GO:0006355, GO:0000165, protein stabilization, protein autophosphorylation, serine phosphorylation of STAT protein, intracellular signal transduction, intracellular signal transduction, negative regulation of Wnt signaling pathway, peptidyl-threonine phosphorylation, regulation of gene expression, Wnt signaling pathway, calcium modulating pathway, transforming growth factor beta receptor signaling pathway, protein phosphorylation, regulation of transcription, DNA-templated, MAPK cascade, 100 97 134 82 84 90 71 58 80 ENSG00000087111 chr17 28553383 28571872 - PIGS protein_coding This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]. 94005 GO:0042765, GO:0042765, GO:0016020, GO:0005789, GPI-anchor transamidase complex, GPI-anchor transamidase complex, membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0016255, attachment of GPI anchor to protein, 294 226 220 142 212 151 169 159 97 ENSG00000087116 chr5 179110851 179345430 - ADAMTS2 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 9509 GO:0062023, GO:0031012, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, extracellular region, GO:0008270, GO:0008237, GO:0004222, zinc ion binding, metallopeptidase activity, metalloendopeptidase activity, GO:0043588, GO:0030574, GO:0030324, GO:0030199, GO:0030198, GO:0016485, GO:0007283, skin development, collagen catabolic process, lung development, collagen fibril organization, extracellular matrix organization, protein processing, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000087128 chr4 68447449 68497604 + TMPRSS11E protein_coding 28983 GO:0005887, GO:0005886, GO:0005576, integral component of plasma membrane, plasma membrane, extracellular region, GO:0008236, GO:0005515, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0050890, GO:0006508, cognition, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000087152 chr17 44191805 44200113 - ATXN7L3 protein_coding 56970 GO:0071819, GO:0071819, GO:0005634, GO:0000124, GO:0000124, DUBm complex, DUBm complex, nucleus, SAGA complex, SAGA complex, GO:0030374, GO:0008270, GO:0005515, GO:0003713, GO:0003713, nuclear receptor coactivator activity, zinc ion binding, protein binding, transcription coactivator activity, transcription coactivator activity, GO:0045893, GO:0045893, GO:0016578, GO:0016578, GO:0010390, GO:0006357, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, histone deubiquitination, histone deubiquitination, histone monoubiquitination, regulation of transcription by RNA polymerase II, 2463 2121 2623 2471 2414 2942 2315 1800 2356 ENSG00000087157 chr17 78378640 78425114 + PGS1 protein_coding 9489 GO:0005783, GO:0005743, GO:0005739, GO:0005739, endoplasmic reticulum, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0008444, GO:0008444, GO:0005524, GO:0005509, CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity, CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity, ATP binding, calcium ion binding, GO:0046339, GO:0032049, GO:0032049, GO:0006655, diacylglycerol metabolic process, cardiolipin biosynthetic process, cardiolipin biosynthetic process, phosphatidylglycerol biosynthetic process, 2196 2293 2745 1613 2319 2461 1920 1749 2069 ENSG00000087191 chr17 63827152 63832026 + PSMC5 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 5705 GO:0098794, GO:0072562, GO:0070062, GO:0031597, GO:0031595, GO:0031410, GO:0022624, GO:0016234, GO:0016020, GO:0008540, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000502, postsynapse, blood microparticle, extracellular exosome, cytosolic proteasome complex, nuclear proteasome complex, cytoplasmic vesicle, proteasome accessory complex, inclusion body, membrane, proteasome regulatory particle, base subcomplex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0031531, GO:0017025, GO:0016887, GO:0016887, GO:0008134, GO:0008134, GO:0005524, GO:0005515, thyrotropin-releasing hormone receptor binding, TBP-class protein binding, ATPase activity, ATPase activity, transcription factor binding, transcription factor binding, ATP binding, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090261, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0050804, GO:0045899, GO:0045893, GO:0045892, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0043069, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0006357, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, positive regulation of inclusion body assembly, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, modulation of chemical synaptic transmission, positive regulation of RNA polymerase II transcription preinitiation complex assembly, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of programmed cell death, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, regulation of transcription by RNA polymerase II, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 147 145 150 215 160 251 206 152 203 ENSG00000087206 chr5 176905005 177022633 - UIMC1 protein_coding This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 51720 GO:0070531, GO:0070531, GO:0016604, GO:0005654, GO:0005654, GO:0005634, BRCA1-A complex, BRCA1-A complex, nuclear body, nucleoplasm, nucleoplasm, nucleus, GO:0070530, GO:0070530, GO:0046872, GO:0042393, GO:0042393, GO:0005515, GO:0003677, K63-linked polyubiquitin modification-dependent protein binding, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, histone binding, histone binding, protein binding, DNA binding, GO:0072425, GO:0070537, GO:0070537, GO:0045892, GO:0045739, GO:0045739, GO:0016579, GO:0010212, GO:0006303, GO:0006302, GO:0006302, signal transduction involved in G2 DNA damage checkpoint, histone H2A K63-linked deubiquitination, histone H2A K63-linked deubiquitination, negative regulation of transcription, DNA-templated, positive regulation of DNA repair, positive regulation of DNA repair, protein deubiquitination, response to ionizing radiation, double-strand break repair via nonhomologous end joining, double-strand break repair, double-strand break repair, 790 919 1055 709 1087 887 861 919 802 ENSG00000087237 chr16 56961850 56983845 + CETP protein_coding The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. 1071 GO:0070062, GO:0034364, GO:0034364, GO:0031982, GO:0005615, GO:0005576, extracellular exosome, high-density lipoprotein particle, high-density lipoprotein particle, vesicle, extracellular space, extracellular region, GO:0120020, GO:0031210, GO:0031210, GO:0017129, GO:0017129, GO:0015485, GO:0015485, GO:0008289, GO:0005548, GO:0005548, cholesterol transfer activity, phosphatidylcholine binding, phosphatidylcholine binding, triglyceride binding, triglyceride binding, cholesterol binding, cholesterol binding, lipid binding, phospholipid transporter activity, phospholipid transporter activity, GO:2001140, GO:0120009, GO:0070328, GO:0070328, GO:0055091, GO:0055091, GO:0055088, GO:0046470, GO:0046470, GO:0043691, GO:0042632, GO:0042632, GO:0034375, GO:0034375, GO:0034375, GO:0034375, GO:0034374, GO:0034374, GO:0034374, GO:0034372, GO:0034372, GO:0034197, GO:0034197, GO:0032376, GO:0030301, GO:0015914, GO:0010874, GO:0010745, GO:0008203, GO:0008203, GO:0008203, GO:0006869, GO:0006641, GO:0006641, positive regulation of phospholipid transport, intermembrane lipid transfer, triglyceride homeostasis, triglyceride homeostasis, phospholipid homeostasis, phospholipid homeostasis, lipid homeostasis, phosphatidylcholine metabolic process, phosphatidylcholine metabolic process, reverse cholesterol transport, cholesterol homeostasis, cholesterol homeostasis, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, triglyceride transport, triglyceride transport, positive regulation of cholesterol transport, cholesterol transport, phospholipid transport, regulation of cholesterol efflux, negative regulation of macrophage derived foam cell differentiation, cholesterol metabolic process, cholesterol metabolic process, cholesterol metabolic process, lipid transport, triglyceride metabolic process, triglyceride metabolic process, 8 7 17 15 27 23 41 26 16 ENSG00000087245 chr16 55389700 55506691 + MMP2 protein_coding This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. 4313 GO:0062023, GO:0062023, GO:0030017, GO:0005886, GO:0005739, GO:0005634, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, sarcomere, plasma membrane, mitochondrion, nucleus, extracellular space, extracellular space, extracellular region, GO:0008270, GO:0008237, GO:0005515, GO:0004252, GO:0004252, GO:0004222, GO:0004222, GO:0004175, zinc ion binding, metallopeptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:1904707, GO:1904645, GO:0071492, GO:0071230, GO:0060346, GO:0060325, GO:0048771, GO:0048013, GO:0044267, GO:0035987, GO:0034614, GO:0030574, GO:0030574, GO:0030198, GO:0022617, GO:0019221, GO:0007566, GO:0006508, GO:0001957, GO:0001955, GO:0001666, GO:0001525, positive regulation of vascular associated smooth muscle cell proliferation, response to amyloid-beta, cellular response to UV-A, cellular response to amino acid stimulus, bone trabecula formation, face morphogenesis, tissue remodeling, ephrin receptor signaling pathway, cellular protein metabolic process, endodermal cell differentiation, cellular response to reactive oxygen species, collagen catabolic process, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, cytokine-mediated signaling pathway, embryo implantation, proteolysis, intramembranous ossification, blood vessel maturation, response to hypoxia, angiogenesis, 0 0 0 1 0 0 0 0 0 ENSG00000087250 chr16 56589074 56591088 + MT3 protein_coding This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. This gene family member displays tissue-specific expression, and contains a threonine insert near its N-terminus and a glutamate-rich hexapeptide insert near its C-terminus relative to the proteins encoded by other gene family members. It plays an important role in zinc and copper homeostasis, and is induced under hypoxic conditions. The encoded protein is a growth inhibitory factor, and reduced levels of the protein are observed in the brains of individuals with some metal-linked neurodegenerative disorders such as Alzheimer's disease. [provided by RefSeq, Sep 2017]. 4504 GO:0097450, GO:0048471, GO:0043197, GO:0030424, GO:0016234, GO:0014069, GO:0008021, GO:0005886, GO:0005874, GO:0005840, GO:0005829, GO:0005791, GO:0005741, GO:0005737, GO:0005737, GO:0005634, GO:0005615, astrocyte end-foot, perinuclear region of cytoplasm, dendritic spine, axon, inclusion body, postsynaptic density, synaptic vesicle, plasma membrane, microtubule, ribosome, cytosol, rough endoplasmic reticulum, mitochondrial outer membrane, cytoplasm, cytoplasm, nucleus, extracellular space, GO:0046872, GO:0046870, GO:0043027, GO:0030295, GO:0016209, GO:0008270, GO:0005515, GO:0005507, GO:0005507, metal ion binding, cadmium ion binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, protein kinase activator activity, antioxidant activity, zinc ion binding, protein binding, copper ion binding, copper ion binding, GO:2000378, GO:2000376, GO:2000296, GO:2000117, GO:0097214, GO:0071732, GO:0071456, GO:0071294, GO:0071280, GO:0071276, GO:0071276, GO:0070374, GO:0070374, GO:0070374, GO:0070371, GO:0060547, GO:0060547, GO:0060049, GO:0055073, GO:0055069, GO:0051354, GO:0050821, GO:0045893, GO:0045893, GO:0045892, GO:0044242, GO:0043524, GO:0043491, GO:0043154, GO:0043085, GO:0043066, GO:0036091, GO:0034599, GO:0033210, GO:0032148, GO:0032095, GO:0030949, GO:0030517, GO:0030308, GO:0030308, GO:0030308, GO:0019430, GO:0016570, GO:0014002, GO:0010977, GO:0010942, GO:0010942, GO:0010940, GO:0010628, GO:0010628, GO:0010507, GO:0010273, GO:0010038, GO:0007420, GO:0006915, GO:0006882, GO:0006882, GO:0006875, GO:0006875, GO:0006829, GO:0006707, GO:0006112, GO:0001934, GO:0001666, negative regulation of reactive oxygen species metabolic process, positive regulation of oxygen metabolic process, negative regulation of hydrogen peroxide catabolic process, negative regulation of cysteine-type endopeptidase activity, positive regulation of lysosomal membrane permeability, cellular response to nitric oxide, cellular response to hypoxia, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, cellular response to cadmium ion, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, negative regulation of necrotic cell death, negative regulation of necrotic cell death, regulation of protein glycosylation, cadmium ion homeostasis, zinc ion homeostasis, negative regulation of oxidoreductase activity, protein stabilization, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, cellular lipid catabolic process, negative regulation of neuron apoptotic process, protein kinase B signaling, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of catalytic activity, negative regulation of apoptotic process, positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress, cellular response to oxidative stress, leptin-mediated signaling pathway, activation of protein kinase B activity, regulation of response to food, positive regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of axon extension, negative regulation of cell growth, negative regulation of cell growth, negative regulation of cell growth, removal of superoxide radicals, histone modification, astrocyte development, negative regulation of neuron projection development, positive regulation of cell death, positive regulation of cell death, positive regulation of necrotic cell death, positive regulation of gene expression, positive regulation of gene expression, negative regulation of autophagy, detoxification of copper ion, response to metal ion, brain development, apoptotic process, cellular zinc ion homeostasis, cellular zinc ion homeostasis, cellular metal ion homeostasis, cellular metal ion homeostasis, zinc ion transport, cholesterol catabolic process, energy reserve metabolic process, positive regulation of protein phosphorylation, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000087253 chr16 55508998 55586670 + LPCAT2 protein_coding This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]. 54947 GO:0016021, GO:0005886, GO:0005811, GO:0005795, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0000139, integral component of membrane, plasma membrane, lipid droplet, Golgi stack, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0050200, GO:0047192, GO:0047184, GO:0047184, GO:0047159, GO:0005515, GO:0005509, GO:0003841, plasmalogen synthase activity, 1-alkylglycerophosphocholine O-acetyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, 1-alkenylglycerophosphocholine O-acyltransferase activity, protein binding, calcium ion binding, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0061024, GO:0036151, GO:0036151, GO:0006663, membrane organization, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, platelet activating factor biosynthetic process, 1901 1862 2625 560 1171 1033 754 1082 986 ENSG00000087258 chr16 56191347 56357457 + GNAO1 protein_coding The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. 2775 GO:0044297, GO:0043209, GO:0030425, GO:0005886, GO:0005834, cell body, myelin sheath, dendrite, plasma membrane, heterotrimeric G-protein complex, GO:0051430, GO:0046872, GO:0032794, GO:0031852, GO:0031821, GO:0031683, GO:0005525, GO:0005515, GO:0003924, GO:0001664, corticotropin-releasing hormone receptor 1 binding, metal ion binding, GTPase activating protein binding, mu-type opioid receptor binding, G protein-coupled serotonin receptor binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activity, G protein-coupled receptor binding, GO:0051926, GO:0043547, GO:0043278, GO:0042542, GO:0042493, GO:0042475, GO:0034097, GO:0031175, GO:0030900, GO:0008016, GO:0007626, GO:0007568, GO:0007223, GO:0007212, GO:0007188, GO:0006936, GO:0006457, negative regulation of calcium ion transport, positive regulation of GTPase activity, response to morphine, response to hydrogen peroxide, response to drug, odontogenesis of dentin-containing tooth, response to cytokine, neuron projection development, forebrain development, regulation of heart contraction, locomotory behavior, aging, Wnt signaling pathway, calcium modulating pathway, dopamine receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, muscle contraction, protein folding, 2 7 12 17 2 33 14 4 12 ENSG00000087263 chr16 56451490 56479100 + OGFOD1 protein_coding 55239 GO:0010494, GO:0005829, GO:0005737, GO:0005654, cytoplasmic stress granule, cytosol, cytoplasm, nucleoplasm, GO:0031544, GO:0031543, GO:0031543, GO:0031418, GO:0005515, GO:0005506, peptidyl-proline 3-dioxygenase activity, peptidyl-proline dioxygenase activity, peptidyl-proline dioxygenase activity, L-ascorbic acid binding, protein binding, iron ion binding, GO:0055114, GO:0034063, GO:0019511, GO:0019511, GO:0018126, GO:0008283, GO:0006449, GO:0006449, oxidation-reduction process, stress granule assembly, peptidyl-proline hydroxylation, peptidyl-proline hydroxylation, protein hydroxylation, cell population proliferation, regulation of translational termination, regulation of translational termination, 25 20 35 59 36 58 48 24 30 ENSG00000087266 chr4 2793023 2841098 + SH3BP2 protein_coding The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 6452 GO:0017124, GO:0005515, GO:0001784, SH3 domain binding, protein binding, phosphotyrosine residue binding, GO:0007165, signal transduction, 3636 3606 5599 2493 4128 3877 3249 3149 3294 ENSG00000087269 chr4 2937933 2963385 - NOP14 protein_coding This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 8602 GO:0032040, GO:0032040, GO:0030692, GO:0030692, GO:0030686, GO:0016020, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005654, small-subunit processome, small-subunit processome, Noc4p-Nop14p complex, Noc4p-Nop14p complex, 90S preribosome, membrane, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0030515, GO:0019899, GO:0003723, snoRNA binding, enzyme binding, RNA binding, GO:0042274, GO:0030490, GO:0006364, GO:0006364, GO:0000480, GO:0000472, GO:0000462, GO:0000447, ribosomal small subunit biogenesis, maturation of SSU-rRNA, rRNA processing, rRNA processing, endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 67 49 91 123 55 137 119 57 113 ENSG00000087274 chr4 2843857 2930076 + ADD1 protein_coding Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]. 118 GO:0044853, GO:0016604, GO:0014069, GO:0008290, GO:0005925, GO:0005912, GO:0005912, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005654, GO:0005634, plasma membrane raft, nuclear body, postsynaptic density, F-actin capping protein complex, focal adhesion, adherens junction, adherens junction, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0051015, GO:0051015, GO:0046982, GO:0045296, GO:0042803, GO:0030507, GO:0030507, GO:0008134, GO:0005516, GO:0005515, GO:0005200, GO:0005198, GO:0003779, GO:0003723, actin filament binding, actin filament binding, protein heterodimerization activity, cadherin binding, protein homodimerization activity, spectrin binding, spectrin binding, transcription factor binding, calmodulin binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, actin binding, RNA binding, GO:1903393, GO:1903393, GO:1903142, GO:1903142, GO:0071277, GO:0055085, GO:0051017, GO:0051017, GO:0051016, GO:0051016, GO:0048873, GO:0036498, GO:0035264, GO:0032092, GO:0030218, GO:0030036, GO:0020027, GO:0006884, GO:0001701, GO:0000902, positive regulation of adherens junction organization, positive regulation of adherens junction organization, positive regulation of establishment of endothelial barrier, positive regulation of establishment of endothelial barrier, cellular response to calcium ion, transmembrane transport, actin filament bundle assembly, actin filament bundle assembly, barbed-end actin filament capping, barbed-end actin filament capping, homeostasis of number of cells within a tissue, IRE1-mediated unfolded protein response, multicellular organism growth, positive regulation of protein binding, erythrocyte differentiation, actin cytoskeleton organization, hemoglobin metabolic process, cell volume homeostasis, in utero embryonic development, cell morphogenesis, 1973 1994 2453 1361 1538 1878 1391 1220 1401 ENSG00000087299 chr14 50237563 50312548 - L2HGDH protein_coding This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]. 79944 GO:0031305, GO:0016021, GO:0005743, GO:0005739, GO:0005739, integral component of mitochondrial inner membrane, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0047545, GO:0047545, GO:0047545, GO:0003973, 2-hydroxyglutarate dehydrogenase activity, 2-hydroxyglutarate dehydrogenase activity, 2-hydroxyglutarate dehydrogenase activity, (S)-2-hydroxy-acid oxidase activity, GO:0055114, GO:0044267, GO:0006103, oxidation-reduction process, cellular protein metabolic process, 2-oxoglutarate metabolic process, 4 3 18 24 4 13 12 3 21 ENSG00000087301 chr14 52430590 52552522 - TXNDC16 protein_coding 57544 GO:0070062, GO:0005788, extracellular exosome, endoplasmic reticulum lumen, GO:0005515, protein binding, GO:0008150, biological_process, 173 165 164 129 153 136 104 104 119 ENSG00000087302 chr14 51989475 52010691 + RTRAF protein_coding 51637 GO:0072686, GO:0072669, GO:0048471, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, mitotic spindle, tRNA-splicing ligase complex, perinuclear region of cytoplasm, cytosol, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0005515, GO:0003723, GO:0003723, GO:0000993, identical protein binding, protein binding, RNA binding, RNA binding, RNA polymerase II complex binding, GO:0050658, GO:0045944, GO:0016032, GO:0006469, GO:0006388, GO:0006388, RNA transport, positive regulation of transcription by RNA polymerase II, viral process, negative regulation of protein kinase activity, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, 109 95 149 182 156 222 146 105 150 ENSG00000087303 chr14 52004803 52069228 - NID2 protein_coding This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]. 22795 GO:0070062, GO:0062023, GO:0062023, GO:0005886, GO:0005615, GO:0005604, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, plasma membrane, extracellular space, basement membrane, basement membrane, extracellular region, GO:0005518, GO:0005515, GO:0005509, GO:0005201, GO:0005201, collagen binding, protein binding, calcium ion binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0071711, GO:0030198, GO:0007160, GO:0007155, basement membrane organization, extracellular matrix organization, cell-matrix adhesion, cell adhesion, 2 5 7 6 3 24 12 6 7 ENSG00000087338 chr2 69829642 69881396 + GMCL1 protein_coding This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]. 64395 GO:0016363, GO:0005634, nuclear matrix, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0007283, GO:0007281, GO:0007275, spermatogenesis, germ cell development, multicellular organism development, 681 667 650 386 594 478 527 541 412 ENSG00000087365 chr11 66050729 66069308 + SF3B2 protein_coding This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]. 10992 GO:0071013, GO:0071013, GO:0071011, GO:0071005, GO:0016607, GO:0005689, GO:0005689, GO:0005686, GO:0005684, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, precatalytic spliceosome, U2-type precatalytic spliceosome, nuclear speck, U12-type spliceosomal complex, U12-type spliceosomal complex, U2 snRNP, U2-type spliceosomal complex, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0016032, GO:0008380, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000398, viral process, RNA splicing, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1544 1992 1878 833 1344 1115 1042 1184 1117 ENSG00000087448 chr12 27780020 27803040 + KLHL42 protein_coding 57542 GO:0031463, GO:0005829, GO:0005819, Cul3-RING ubiquitin ligase complex, cytosol, spindle, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0051301, GO:0043687, GO:0043161, GO:0043161, GO:0032886, GO:0032886, GO:0007049, GO:0000209, GO:0000209, cell division, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of microtubule-based process, regulation of microtubule-based process, cell cycle, protein polyubiquitination, protein polyubiquitination, 12 17 32 40 11 41 31 20 34 ENSG00000087460 chr20 58839718 58911192 + GNAS protein_coding This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]. 2778 GO:0070062, GO:0030425, GO:0016324, GO:0016020, GO:0016020, GO:0016020, GO:0005834, GO:0005829, GO:0005829, extracellular exosome, dendrite, apical plasma membrane, membrane, membrane, membrane, heterotrimeric G-protein complex, cytosol, cytosol, GO:0051430, GO:0046872, GO:0035255, GO:0031852, GO:0031748, GO:0031698, GO:0031683, GO:0010856, GO:0005525, GO:0005515, GO:0005159, GO:0003924, GO:0001664, corticotropin-releasing hormone receptor 1 binding, metal ion binding, ionotropic glutamate receptor binding, mu-type opioid receptor binding, D1 dopamine receptor binding, beta-2 adrenergic receptor binding, G-protein beta/gamma-subunit complex binding, adenylate cyclase activator activity, GTP binding, protein binding, insulin-like growth factor receptor binding, GTPase activity, G protein-coupled receptor binding, GO:2000828, GO:0120162, GO:0071514, GO:0070527, GO:0060348, GO:0051216, GO:0048701, GO:0048589, GO:0045672, GO:0045669, GO:0043588, GO:0043085, GO:0042493, GO:0040032, GO:0035264, GO:0035116, GO:0007606, GO:0007191, GO:0007189, GO:0007188, GO:0006306, GO:0006112, GO:0001958, GO:0001894, regulation of parathyroid hormone secretion, positive regulation of cold-induced thermogenesis, genetic imprinting, platelet aggregation, bone development, cartilage development, embryonic cranial skeleton morphogenesis, developmental growth, positive regulation of osteoclast differentiation, positive regulation of osteoblast differentiation, skin development, positive regulation of catalytic activity, response to drug, post-embryonic body morphogenesis, multicellular organism growth, embryonic hindlimb morphogenesis, sensory perception of chemical stimulus, adenylate cyclase-activating dopamine receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, DNA methylation, energy reserve metabolic process, endochondral ossification, tissue homeostasis, 4025 3651 5940 2271 2718 3179 2663 2476 2805 ENSG00000087470 chr12 32679200 32745650 + DNM1L protein_coding This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]. 10059 GO:0099073, GO:0098835, GO:0048471, GO:0043231, GO:0032991, GO:0031966, GO:0030672, GO:0016020, GO:0016020, GO:0005905, GO:0005903, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0005777, GO:0005777, GO:0005741, GO:0005741, GO:0005739, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0000139, mitochondrion-derived vesicle, presynaptic endocytic zone membrane, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, protein-containing complex, mitochondrial membrane, synaptic vesicle membrane, membrane, membrane, clathrin-coated pit, brush border, microtubule, cytosol, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, peroxisome, peroxisome, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, cytoplasm, cytoplasm, cytoplasm, Golgi membrane, GO:0051433, GO:0044877, GO:0042803, GO:0042802, GO:0031625, GO:0031267, GO:0030742, GO:0030276, GO:0008289, GO:0008017, GO:0005525, GO:0005515, GO:0005096, GO:0003924, GO:0003924, BH2 domain binding, protein-containing complex binding, protein homodimerization activity, identical protein binding, ubiquitin protein ligase binding, small GTPase binding, GTP-dependent protein binding, clathrin binding, lipid binding, microtubule binding, GTP binding, protein binding, GTPase activator activity, GTPase activity, GTPase activity, GO:2001244, GO:2000302, GO:1990910, GO:1905395, GO:1904666, GO:1904579, GO:1903578, GO:1903146, GO:1903146, GO:1900244, GO:1900063, GO:0097194, GO:0090650, GO:0090200, GO:0090149, GO:0090149, GO:0090141, GO:0090141, GO:0090023, GO:0070585, GO:0070584, GO:0070266, GO:0065003, GO:0061025, GO:0061025, GO:0061003, GO:0060047, GO:0051259, GO:0050714, GO:0048511, GO:0048312, GO:0048312, GO:0048285, GO:0043653, GO:0043653, GO:0043547, GO:0043065, GO:0036466, GO:0016559, GO:0016559, GO:0010821, GO:0010637, GO:0010468, GO:0007029, GO:0007005, GO:0006897, GO:0006816, GO:0003374, GO:0003374, GO:0001836, GO:0000266, GO:0000266, GO:0000266, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of synaptic vesicle exocytosis, response to hypobaric hypoxia, response to flavonoid, regulation of ubiquitin protein ligase activity, cellular response to thapsigargin, regulation of ATP metabolic process, regulation of autophagy of mitochondrion, regulation of autophagy of mitochondrion, positive regulation of synaptic vesicle endocytosis, regulation of peroxisome organization, execution phase of apoptosis, cellular response to oxygen-glucose deprivation, positive regulation of release of cytochrome c from mitochondria, mitochondrial membrane fission, mitochondrial membrane fission, positive regulation of mitochondrial fission, positive regulation of mitochondrial fission, positive regulation of neutrophil chemotaxis, protein localization to mitochondrion, mitochondrion morphogenesis, necroptotic process, protein-containing complex assembly, membrane fusion, membrane fusion, positive regulation of dendritic spine morphogenesis, heart contraction, protein complex oligomerization, positive regulation of protein secretion, rhythmic process, intracellular distribution of mitochondria, intracellular distribution of mitochondria, organelle fission, mitochondrial fragmentation involved in apoptotic process, mitochondrial fragmentation involved in apoptotic process, positive regulation of GTPase activity, positive regulation of apoptotic process, synaptic vesicle recycling via endosome, peroxisome fission, peroxisome fission, regulation of mitochondrion organization, negative regulation of mitochondrial fusion, regulation of gene expression, endoplasmic reticulum organization, mitochondrion organization, endocytosis, calcium ion transport, dynamin family protein polymerization involved in mitochondrial fission, dynamin family protein polymerization involved in mitochondrial fission, release of cytochrome c from mitochondria, mitochondrial fission, mitochondrial fission, mitochondrial fission, 59 82 175 120 69 186 126 48 97 ENSG00000087494 chr12 27958084 27972705 - PTHLH protein_coding The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]. 5744 GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005615, GO:0005576, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, extracellular space, extracellular region, GO:0051428, GO:0051428, GO:0005515, GO:0005179, peptide hormone receptor binding, peptide hormone receptor binding, protein binding, hormone activity, GO:0061182, GO:0046058, GO:0032331, GO:0032330, GO:0030282, GO:0010468, GO:0008544, GO:0008285, GO:0008284, GO:0007565, GO:0007267, GO:0007189, GO:0007189, GO:0007186, GO:0002076, GO:0001501, negative regulation of chondrocyte development, cAMP metabolic process, negative regulation of chondrocyte differentiation, regulation of chondrocyte differentiation, bone mineralization, regulation of gene expression, epidermis development, negative regulation of cell population proliferation, positive regulation of cell population proliferation, female pregnancy, cell-cell signaling, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, osteoblast development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000087495 chr20 59577509 59847711 + PHACTR3 protein_coding This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 116154 GO:0016363, GO:0005654, nuclear matrix, nucleoplasm, GO:0008157, GO:0005515, GO:0004864, GO:0003779, protein phosphatase 1 binding, protein binding, protein phosphatase inhibitor activity, actin binding, GO:0032515, GO:0030036, negative regulation of phosphoprotein phosphatase activity, actin cytoskeleton organization, 0 0 0 1 2 0 3 0 0 ENSG00000087502 chr12 29337352 29381189 - ERGIC2 protein_coding ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]. 51290 GO:0043231, GO:0033116, GO:0030134, GO:0016021, GO:0016020, GO:0016020, GO:0005794, GO:0005789, GO:0005783, GO:0005737, GO:0005730, GO:0005634, intracellular membrane-bounded organelle, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, integral component of membrane, membrane, membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleolus, nucleus, GO:0005515, protein binding, GO:0006890, GO:0006890, GO:0006888, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, 552 349 641 276 289 383 292 289 298 ENSG00000087510 chr20 56629302 56639283 + TFAP2C protein_coding The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]. 7022 GO:0005829, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, mitochondrion, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048856, GO:0045944, GO:0045944, GO:0042127, GO:0040029, GO:0008584, GO:0007267, GO:0006357, GO:0006357, GO:0000122, anatomical structure development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of cell population proliferation, regulation of gene expression, epigenetic, male gonad development, cell-cell signaling, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000087586 chr20 56369389 56392337 - AURKA protein_coding The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6790 GO:0097431, GO:0072687, GO:0051233, GO:0048471, GO:0045120, GO:0043203, GO:0042585, GO:0032133, GO:0031616, GO:0031616, GO:0030496, GO:0015630, GO:0005929, GO:0005876, GO:0005829, GO:0005829, GO:0005819, GO:0005814, GO:0005813, GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0000779, mitotic spindle pole, meiotic spindle, spindle midzone, perinuclear region of cytoplasm, pronucleus, axon hillock, germinal vesicle, chromosome passenger complex, spindle pole centrosome, spindle pole centrosome, midbody, microtubule cytoskeleton, cilium, spindle microtubule, cytosol, cytosol, spindle, centriole, centrosome, centrosome, nucleoplasm, nucleoplasm, nucleus, condensed chromosome, centromeric region, GO:0106311, GO:0106310, GO:0046982, GO:0035174, GO:0031625, GO:0019901, GO:0005524, GO:0005515, GO:0004712, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, protein heterodimerization activity, histone serine kinase activity, ubiquitin protein ligase binding, protein kinase binding, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1990138, GO:1901796, GO:1900195, GO:0097421, GO:0071539, GO:0051642, GO:0051301, GO:0046777, GO:0046605, GO:0045840, GO:0043066, GO:0035404, GO:0032465, GO:0032436, GO:0032091, GO:0031647, GO:0031145, GO:0018105, GO:0010972, GO:0010629, GO:0010389, GO:0009948, GO:0009611, GO:0007100, GO:0007057, GO:0007052, GO:0007051, GO:0006977, GO:0006511, GO:0006468, GO:0000278, GO:0000086, neuron projection extension, regulation of signal transduction by p53 class mediator, positive regulation of oocyte maturation, liver regeneration, protein localization to centrosome, centrosome localization, cell division, protein autophosphorylation, regulation of centrosome cycle, positive regulation of mitotic nuclear division, negative regulation of apoptotic process, histone-serine phosphorylation, regulation of cytokinesis, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein binding, regulation of protein stability, anaphase-promoting complex-dependent catabolic process, peptidyl-serine phosphorylation, negative regulation of G2/M transition of mitotic cell cycle, negative regulation of gene expression, regulation of G2/M transition of mitotic cell cycle, anterior/posterior axis specification, response to wounding, mitotic centrosome separation, spindle assembly involved in female meiosis I, mitotic spindle organization, spindle organization, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, ubiquitin-dependent protein catabolic process, protein phosphorylation, mitotic cell cycle, G2/M transition of mitotic cell cycle, 45 44 81 39 19 21 25 24 11 ENSG00000087589 chr20 56412112 56460387 + CASS4 protein_coding 57091 GO:0005925, GO:0005886, GO:0005856, GO:0005737, GO:0005737, GO:0005737, focal adhesion, plasma membrane, cytoskeleton, cytoplasm, cytoplasm, cytoplasm, GO:1990782, protein tyrosine kinase binding, GO:1900026, GO:0090527, GO:0061098, GO:0051897, GO:0030335, GO:0016477, GO:0007169, GO:0007155, positive regulation of substrate adhesion-dependent cell spreading, actin filament reorganization, positive regulation of protein tyrosine kinase activity, positive regulation of protein kinase B signaling, positive regulation of cell migration, cell migration, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, 2612 1610 2256 498 1018 665 454 791 507 ENSG00000087842 chrX 15384799 15493564 - PIR protein_coding This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]. 8544 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0008127, GO:0008127, GO:0008127, GO:0005515, GO:0003712, metal ion binding, quercetin 2,3-dioxygenase activity, quercetin 2,3-dioxygenase activity, quercetin 2,3-dioxygenase activity, protein binding, transcription coregulator activity, GO:1903506, GO:0055114, GO:0030224, GO:0030224, GO:0007586, GO:0006366, regulation of nucleic acid-templated transcription, oxidation-reduction process, monocyte differentiation, monocyte differentiation, digestion, transcription by RNA polymerase II, 0 0 1 0 0 0 0 0 0 ENSG00000087884 chr11 77821109 77918432 + AAMDC protein_coding 28971 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0045600, positive regulation of fat cell differentiation, 13 13 29 13 22 12 11 25 14 ENSG00000087903 chr19 5993164 6199572 - RFX2 protein_coding This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]. 5990 GO:0005737, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990830, GO:0060271, GO:0045944, GO:0007286, GO:0006357, GO:0006357, GO:0001675, cellular response to leukemia inhibitory factor, cilium assembly, positive regulation of transcription by RNA polymerase II, spermatid development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, acrosome assembly, 898 940 822 730 1082 671 839 826 647 ENSG00000087995 chr17 62423867 62450822 + METTL2A protein_coding 339175 GO:0052735, GO:0052735, GO:0016427, tRNA (cytosine-3-)-methyltransferase activity, tRNA (cytosine-3-)-methyltransferase activity, tRNA (cytosine) methyltransferase activity, GO:0030488, GO:0030488, tRNA methylation, tRNA methylation, 8 6 9 23 2 26 20 12 12 ENSG00000088002 chr19 48552075 48599425 + SULT2B1 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]. 6820 GO:0070062, GO:0043231, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005634, extracellular exosome, intracellular membrane-bounded organelle, cytosol, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, GO:1990239, GO:0050294, GO:0015485, GO:0008146, GO:0005515, GO:0004027, GO:0003676, steroid hormone binding, steroid sulfotransferase activity, cholesterol binding, sulfotransferase activity, protein binding, alcohol sulfotransferase activity, nucleic acid binding, GO:0051923, GO:0050427, GO:0050427, GO:0045606, GO:0008285, GO:0008203, GO:0008202, GO:0000103, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, positive regulation of epidermal cell differentiation, negative regulation of cell population proliferation, cholesterol metabolic process, steroid metabolic process, sulfate assimilation, 0 1 1 0 0 0 3 0 0 ENSG00000088035 chr1 63367575 63438562 + ALG6 protein_coding This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]. 29929 GO:0016021, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0046527, GO:0042281, GO:0004583, glucosyltransferase activity, dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity, dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity, GO:0006490, GO:0006488, GO:0006487, GO:0006487, oligosaccharide-lipid intermediate biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, protein N-linked glycosylation, protein N-linked glycosylation, 89 68 114 118 94 148 91 69 133 ENSG00000088038 chr19 54137717 54155708 + CNOT3 protein_coding 4849 GO:0030015, GO:0030014, GO:0005829, GO:0005634, GO:0000932, GO:0000932, CCR4-NOT core complex, CCR4-NOT complex, cytosol, nucleus, P-body, P-body, GO:0005515, protein binding, GO:2000036, GO:2000036, GO:0120162, GO:0090503, GO:0031047, GO:0006977, GO:0006355, GO:0001829, GO:0000289, GO:0000289, regulation of stem cell population maintenance, regulation of stem cell population maintenance, positive regulation of cold-induced thermogenesis, RNA phosphodiester bond hydrolysis, exonucleolytic, gene silencing by RNA, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription, DNA-templated, trophectodermal cell differentiation, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, 54 94 94 44 58 62 32 77 79 ENSG00000088053 chr19 55013705 55038264 - GP6 protein_coding This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 51206 GO:0097197, GO:0070062, GO:0009986, GO:0005887, GO:0005886, tetraspanin-enriched microdomain, extracellular exosome, cell surface, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005518, GO:0005515, GO:0004888, signaling receptor activity, collagen binding, protein binding, transmembrane signaling receptor activity, GO:0050900, GO:0030168, GO:0030168, GO:0007596, GO:0007167, leukocyte migration, platelet activation, platelet activation, blood coagulation, enzyme linked receptor protein signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000088179 chr2 119759631 119983818 + PTPN4 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]. 5775 GO:0009898, GO:0009898, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005654, cytoplasmic side of plasma membrane, cytoplasmic side of plasma membrane, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0008092, GO:0005515, GO:0004726, GO:0004725, cytoskeletal protein binding, protein binding, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0071345, GO:0035335, GO:0006470, cellular response to cytokine stimulus, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, 175 145 237 382 165 381 343 126 242 ENSG00000088205 chr2 117814650 117832379 + DDX18 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]. 8886 GO:0016020, GO:0005730, GO:0005730, GO:0005694, membrane, nucleolus, nucleolus, chromosome, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, GO:0071392, GO:0000463, cellular response to estradiol stimulus, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 530 521 637 1208 1055 1255 1140 711 745 ENSG00000088247 chr19 6413348 6424794 - KHSRP protein_coding The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]. 8570 GO:0016020, GO:0010494, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000178, membrane, cytoplasmic stress granule, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, exosome (RNase complex), GO:0035925, GO:0005515, GO:0003729, GO:0003723, GO:0003677, mRNA 3'-UTR AU-rich region binding, protein binding, mRNA binding, RNA binding, DNA binding, GO:2000628, GO:0071345, GO:0061158, GO:0061158, GO:0061014, GO:0051028, GO:0045019, GO:0043488, GO:0043488, GO:0010989, GO:0010586, GO:0010468, GO:0008380, GO:0006402, GO:0006397, GO:0006355, GO:0000375, regulation of miRNA metabolic process, cellular response to cytokine stimulus, 3'-UTR-mediated mRNA destabilization, 3'-UTR-mediated mRNA destabilization, positive regulation of mRNA catabolic process, mRNA transport, negative regulation of nitric oxide biosynthetic process, regulation of mRNA stability, regulation of mRNA stability, negative regulation of low-density lipoprotein particle clearance, miRNA metabolic process, regulation of gene expression, RNA splicing, mRNA catabolic process, mRNA processing, regulation of transcription, DNA-templated, RNA splicing, via transesterification reactions, 708 768 845 507 524 601 526 456 534 ENSG00000088256 chr19 3094410 3124004 + GNA11 protein_coding The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]. 2767 GO:0070062, GO:0045202, GO:0005886, GO:0005834, GO:0005765, GO:0005737, GO:0001750, extracellular exosome, synapse, plasma membrane, heterotrimeric G-protein complex, lysosomal membrane, cytoplasm, photoreceptor outer segment, GO:0046872, GO:0031826, GO:0031683, GO:0005525, GO:0005515, GO:0003924, GO:0001664, metal ion binding, type 2A serotonin receptor binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activity, G protein-coupled receptor binding, GO:0071467, GO:0060158, GO:0048066, GO:0045634, GO:0030168, GO:0009649, GO:0007603, GO:0007507, GO:0007213, GO:0007188, GO:0007186, GO:0007165, GO:0001508, GO:0001501, cellular response to pH, phospholipase C-activating dopamine receptor signaling pathway, developmental pigmentation, regulation of melanocyte differentiation, platelet activation, entrainment of circadian clock, phototransduction, visible light, heart development, G protein-coupled acetylcholine receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, action potential, skeletal system development, 4 5 10 10 4 5 11 0 5 ENSG00000088280 chr1 23428563 23484568 - ASAP3 protein_coding This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]. 55616 GO:0043231, GO:0043231, GO:0005925, GO:0005925, GO:0005829, GO:0005654, GO:0001726, GO:0001726, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, focal adhesion, focal adhesion, cytosol, nucleoplasm, ruffle, ruffle, GO:0046872, GO:0005515, GO:0005096, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0051492, GO:0051492, GO:0043547, GO:0016477, regulation of stress fiber assembly, regulation of stress fiber assembly, positive regulation of GTPase activity, cell migration, 1 0 0 4 0 4 2 0 2 ENSG00000088298 chr20 35115357 35147364 - EDEM2 protein_coding In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]. 55741 GO:0044322, GO:0016020, GO:0005788, GO:0005783, endoplasmic reticulum quality control compartment, membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0005509, GO:0004571, GO:0004571, calcium ion binding, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, GO:1904382, GO:1904154, GO:1904154, GO:0097466, GO:0036512, GO:0036511, GO:0036510, GO:0036509, GO:0036509, GO:0006986, GO:0005975, mannose trimming involved in glycoprotein ERAD pathway, positive regulation of retrograde protein transport, ER to cytosol, positive regulation of retrograde protein transport, ER to cytosol, ubiquitin-dependent glycoprotein ERAD pathway, trimming of second mannose on A branch, trimming of first mannose on A branch, trimming of terminal mannose on C branch, trimming of terminal mannose on B branch, trimming of terminal mannose on B branch, response to unfolded protein, carbohydrate metabolic process, 305 334 349 294 415 389 336 289 266 ENSG00000088305 chr20 32762385 32809356 + DNMT3B protein_coding CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]. 1789 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0042826, GO:0009008, GO:0009008, GO:0005515, GO:0003886, GO:0003886, GO:0003886, GO:0003714, GO:0003714, GO:0003682, GO:0003677, metal ion binding, histone deacetylase binding, DNA-methyltransferase activity, DNA-methyltransferase activity, protein binding, DNA (cytosine-5-)-methyltransferase activity, DNA (cytosine-5-)-methyltransferase activity, DNA (cytosine-5-)-methyltransferase activity, transcription corepressor activity, transcription corepressor activity, chromatin binding, DNA binding, GO:0090116, GO:0071549, GO:0071455, GO:0051573, GO:0051571, GO:0045814, GO:0045666, GO:0042493, GO:0042220, GO:0033189, GO:0032355, GO:0031000, GO:0014823, GO:0010628, GO:0010212, GO:0009636, GO:0006306, GO:0006306, GO:0001666, GO:0000122, C-5 methylation of cytosine, cellular response to dexamethasone stimulus, cellular response to hyperoxia, negative regulation of histone H3-K9 methylation, positive regulation of histone H3-K4 methylation, negative regulation of gene expression, epigenetic, positive regulation of neuron differentiation, response to drug, response to cocaine, response to vitamin A, response to estradiol, response to caffeine, response to activity, positive regulation of gene expression, response to ionizing radiation, response to toxic substance, DNA methylation, DNA methylation, response to hypoxia, negative regulation of transcription by RNA polymerase II, 0 0 2 0 0 0 0 2 0 ENSG00000088320 chr20 31475293 31484905 + REM1 protein_coding The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]. 28954 GO:0005886, plasma membrane, GO:0005525, GO:0005516, GO:0005246, GO:0003924, GTP binding, calmodulin binding, calcium channel regulator activity, GTPase activity, GO:1901842, GO:0007165, negative regulation of high voltage-gated calcium channel activity, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000088325 chr20 31739271 31801805 + TPX2 protein_coding 22974 GO:0072686, GO:0072686, GO:0045171, GO:0043203, GO:0015630, GO:0005880, GO:0005829, GO:0005819, GO:0005654, GO:0005654, GO:0005634, GO:0000922, mitotic spindle, mitotic spindle, intercellular bridge, axon hillock, microtubule cytoskeleton, nuclear microtubule, cytosol, spindle, nucleoplasm, nucleoplasm, nucleus, spindle pole, GO:0061676, GO:0030295, GO:0019901, GO:0008017, GO:0005515, importin-alpha family protein binding, protein kinase activator activity, protein kinase binding, microtubule binding, protein binding, GO:1901796, GO:0090307, GO:0090307, GO:0060236, GO:0051301, GO:0032147, GO:0010389, GO:0007026, GO:0007020, GO:0006915, GO:0000278, regulation of signal transduction by p53 class mediator, mitotic spindle assembly, mitotic spindle assembly, regulation of mitotic spindle organization, cell division, activation of protein kinase activity, regulation of G2/M transition of mitotic cell cycle, negative regulation of microtubule depolymerization, microtubule nucleation, apoptotic process, mitotic cell cycle, 4 1 11 4 0 7 4 1 1 ENSG00000088340 chr20 35558737 35607562 - FER1L4 transcribed_unitary_pseudogene 1 0 0 0 1 0 1 1 0 ENSG00000088356 chr20 31944342 31952092 - PDRG1 protein_coding 81572 GO:0016272, GO:0005737, prefoldin complex, cytoplasm, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:0006457, protein folding, 28 23 46 26 31 20 15 25 26 ENSG00000088367 chr20 36091504 36232799 + EPB41L1 protein_coding Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]. 2036 GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005829, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0005515, GO:0005198, GO:0003779, protein binding, structural molecule activity, actin binding, GO:0031032, GO:0030866, actomyosin structure organization, cortical actin cytoskeleton organization, 0 1 0 1 0 1 2 0 2 ENSG00000088386 chr13 98683801 98752654 - SLC15A1 protein_coding This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]. 6564 GO:0089717, GO:0016324, GO:0005903, GO:0005887, GO:0005886, GO:0005886, GO:0005886, spanning component of membrane, apical plasma membrane, brush border, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0071916, GO:0071916, GO:0071916, GO:0042937, GO:0015333, GO:0005427, dipeptide transmembrane transporter activity, dipeptide transmembrane transporter activity, dipeptide transmembrane transporter activity, tripeptide transmembrane transporter activity, peptide:proton symporter activity, proton-dependent oligopeptide secondary active transmembrane transporter activity, GO:1902600, GO:0140207, GO:0140206, GO:0140206, GO:0015031, GO:0006811, proton transmembrane transport, tripeptide import across plasma membrane, dipeptide import across plasma membrane, dipeptide import across plasma membrane, protein transport, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000088387 chr13 98793429 99086625 - DOCK9 protein_coding 23348 GO:0016020, GO:0012505, GO:0005829, membrane, endomembrane system, cytosol, GO:0045296, GO:0005515, GO:0005085, cadherin binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0043547, GO:0008150, GO:0007596, GO:0007264, positive regulation of GTPase activity, biological_process, blood coagulation, small GTPase mediated signal transduction, 65 60 148 172 40 123 145 50 102 ENSG00000088448 chr13 110878540 110915069 - ANKRD10 protein_coding 55608 GO:0005515, protein binding, 559 484 731 652 644 902 740 478 669 ENSG00000088451 chr13 94574051 94596257 - TGDS protein_coding The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 23483 GO:0008460, GO:0005515, dTDP-glucose 4,6-dehydratase activity, protein binding, GO:0009225, nucleotide-sugar metabolic process, 19 12 28 19 16 21 26 9 12 ENSG00000088538 chr3 50675241 51384198 + DOCK3 protein_coding This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]. 1795 GO:0005829, GO:0005829, cytosol, cytosol, GO:0017124, GO:0005515, GO:0005085, SH3 domain binding, protein binding, guanyl-nucleotide exchange factor activity, GO:1903997, GO:0007264, positive regulation of non-membrane spanning protein tyrosine kinase activity, small GTPase mediated signal transduction, 5 0 13 13 5 26 4 2 23 ENSG00000088543 chr3 50558025 50571027 - C3orf18 protein_coding 51161 GO:0016021, integral component of membrane, 2 1 17 35 8 9 36 8 17 ENSG00000088682 chr16 57447425 57461275 + COQ9 protein_coding This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]. 57017 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0042803, GO:0008289, GO:0008289, GO:0005515, protein homodimerization activity, lipid binding, lipid binding, protein binding, GO:0006744, GO:0006744, GO:0006744, GO:0006120, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, mitochondrial electron transport, NADH to ubiquinone, 39 49 38 38 47 38 49 48 45 ENSG00000088726 chr3 12733525 12769457 - TMEM40 protein_coding 55287 GO:0016021, integral component of membrane, 2 0 0 0 0 0 2 0 4 ENSG00000088727 chr3 47228026 47283451 - KIF9 protein_coding 64147 GO:0031982, GO:0005874, GO:0005874, GO:0005871, GO:0005737, GO:0002102, vesicle, microtubule, microtubule, kinesin complex, cytoplasm, podosome, GO:0042802, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, identical protein binding, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:1903008, GO:0071801, GO:0022617, GO:0007018, organelle disassembly, regulation of podosome assembly, extracellular matrix disassembly, microtubule-based movement, 82 72 96 29 47 87 39 48 49 ENSG00000088756 chr18 6729718 6915716 + ARHGAP28 protein_coding 79822 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005096, GTPase activator activity, GO:1904425, GO:0051497, GO:0051056, GO:0051056, GO:0043547, GO:0030833, GO:0007165, negative regulation of GTP binding, negative regulation of stress fiber assembly, regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of actin filament polymerization, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000088766 chr20 6006090 6040053 + CRLS1 protein_coding This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]. 54675 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0047144, GO:0043337, GO:0008808, GO:0003841, 2-acylglycerol-3-phosphate O-acyltransferase activity, CDP-diacylglycerol-phosphatidylglycerol phosphatidyltransferase activity, cardiolipin synthase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:1905711, GO:0097068, GO:0046474, GO:0036148, GO:0032049, GO:0032049, response to phosphatidylethanolamine, response to thyroxine, glycerophospholipid biosynthetic process, phosphatidylglycerol acyl-chain remodeling, cardiolipin biosynthetic process, cardiolipin biosynthetic process, 8 5 22 45 20 54 26 19 38 ENSG00000088782 chr20 157470 159163 + DEFB127 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]. 140850 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005515, protein binding, GO:0061844, GO:0050829, GO:0045087, GO:0042742, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-negative bacterium, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000088808 chr14 103733195 103847590 - PPP1R13B protein_coding This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]. 23368 GO:0005886, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, plasma membrane, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0008134, GO:0005515, GO:0002039, transcription factor binding, protein binding, p53 binding, GO:1901796, GO:1900740, GO:0072332, GO:0045786, GO:0042981, regulation of signal transduction by p53 class mediator, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of cell cycle, regulation of apoptotic process, 27 19 63 47 42 63 53 36 49 ENSG00000088812 chr20 3471040 3651122 + ATRN protein_coding This gene encodes both membrane-bound and secreted protein isoforms. A membrane-bound isoform exhibits sequence similarity with the mouse mahogany protein, a receptor involved in controlling obesity. A secreted isoform is involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, Apr 2016]. 8455 GO:0070062, GO:0005887, GO:0005886, GO:0005737, GO:0005615, GO:0005604, extracellular exosome, integral component of plasma membrane, plasma membrane, cytoplasm, extracellular space, basement membrane, GO:0038023, GO:0030246, signaling receptor activity, carbohydrate binding, GO:0043473, GO:0042552, GO:0040014, GO:0034446, GO:0021549, GO:0016477, GO:0009888, GO:0009887, GO:0006979, GO:0006954, pigmentation, myelination, regulation of multicellular organism growth, substrate adhesion-dependent cell spreading, cerebellum development, cell migration, tissue development, animal organ morphogenesis, response to oxidative stress, inflammatory response, 28 29 62 54 25 78 49 19 62 ENSG00000088826 chr20 4120980 4187747 + SMOX protein_coding Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]. 54498 GO:0043231, GO:0031965, GO:0005829, GO:0005654, intracellular membrane-bounded organelle, nuclear membrane, cytosol, nucleoplasm, GO:0052901, GO:0052895, GO:0052894, GO:0046592, GO:0046592, GO:0016491, spermine:oxygen oxidoreductase (spermidine-forming) activity, N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity, norspermine:oxygen oxidoreductase activity, polyamine oxidase activity, polyamine oxidase activity, oxidoreductase activity, GO:0055114, GO:0046208, GO:0006598, GO:0006596, oxidation-reduction process, spermine catabolic process, polyamine catabolic process, polyamine biosynthetic process, 1 3 6 2 1 1 0 3 2 ENSG00000088827 chr20 3686970 3707128 - SIGLEC1 protein_coding This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]. 6614 GO:0016021, GO:0005886, GO:0005770, GO:0005769, GO:0005576, integral component of membrane, plasma membrane, late endosome, early endosome, extracellular region, GO:0046790, GO:0030246, virion binding, carbohydrate binding, GO:0098609, GO:0075512, GO:0007160, GO:0006954, cell-cell adhesion, clathrin-dependent endocytosis of virus by host cell, cell-matrix adhesion, inflammatory response, 2 2 2 5 6 4 3 7 4 ENSG00000088832 chr20 1368978 1393172 - FKBP1A protein_coding The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]. 2280 GO:1990425, GO:0098562, GO:0031312, GO:0030018, GO:0016529, GO:0016020, GO:0014802, GO:0005829, GO:0005829, GO:0005737, GO:0005737, ryanodine receptor complex, cytoplasmic side of membrane, extrinsic component of organelle membrane, Z disc, sarcoplasmic reticulum, membrane, terminal cisterna, cytosol, cytosol, cytoplasm, cytoplasm, GO:0048185, GO:0046332, GO:0044325, GO:0044325, GO:0034713, GO:0034713, GO:0019855, GO:0005528, GO:0005528, GO:0005527, GO:0005515, GO:0005160, GO:0005160, GO:0003755, GO:0003755, GO:0003755, activin binding, SMAD binding, ion channel binding, ion channel binding, type I transforming growth factor beta receptor binding, type I transforming growth factor beta receptor binding, calcium channel inhibitor activity, FK506 binding, FK506 binding, macrolide binding, protein binding, transforming growth factor beta receptor binding, transforming growth factor beta receptor binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:1990000, GO:1902991, GO:1901393, GO:0097435, GO:0070588, GO:0061077, GO:0060347, GO:0060315, GO:0060314, GO:0060314, GO:0055010, GO:0051280, GO:0050776, GO:0043123, GO:0042110, GO:0042026, GO:0032925, GO:0032880, GO:0032515, GO:0032092, GO:0031398, GO:0022417, GO:0007183, GO:0006458, GO:0006457, GO:0003007, GO:0000413, GO:0000413, amyloid fibril formation, regulation of amyloid precursor protein catabolic process, negative regulation of transforming growth factor beta1 activation, supramolecular fiber organization, calcium ion transmembrane transport, chaperone-mediated protein folding, heart trabecula formation, negative regulation of ryanodine-sensitive calcium-release channel activity, regulation of ryanodine-sensitive calcium-release channel activity, regulation of ryanodine-sensitive calcium-release channel activity, ventricular cardiac muscle tissue morphogenesis, negative regulation of release of sequestered calcium ion into cytosol, regulation of immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, T cell activation, protein refolding, regulation of activin receptor signaling pathway, regulation of protein localization, negative regulation of phosphoprotein phosphatase activity, positive regulation of protein binding, positive regulation of protein ubiquitination, protein maturation by protein folding, SMAD protein complex assembly, 'de novo' protein folding, protein folding, heart morphogenesis, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, 1992 1798 2777 726 1516 1109 963 1321 1186 ENSG00000088833 chr20 1442162 1473842 - NSFL1C protein_coding N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]. 55968 GO:1990730, GO:0045111, GO:0031616, GO:0005886, GO:0005829, GO:0005829, GO:0005795, GO:0005694, GO:0005654, GO:0005634, VCP-NSFL1C complex, intermediate filament cytoskeleton, spindle pole centrosome, plasma membrane, cytosol, cytosol, Golgi stack, chromosome, nucleoplasm, nucleus, GO:0051117, GO:0043130, GO:0005543, GO:0005515, ATPase binding, ubiquitin binding, phospholipid binding, protein binding, GO:1904780, GO:0061025, GO:0046604, GO:0043161, GO:0031468, GO:0007030, GO:0000132, GO:0000045, negative regulation of protein localization to centrosome, membrane fusion, positive regulation of mitotic centrosome separation, proteasome-mediated ubiquitin-dependent protein catabolic process, nuclear envelope reassembly, Golgi organization, establishment of mitotic spindle orientation, autophagosome assembly, 1191 1197 1600 892 1652 1861 1244 1274 1588 ENSG00000088836 chr20 3227417 3239559 - SLC4A11 protein_coding This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]. 83959 GO:0016324, GO:0016323, GO:0016323, GO:0016323, GO:0016323, GO:0016021, GO:0012506, GO:0005886, GO:0005886, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, vesicle membrane, plasma membrane, plasma membrane, GO:0046983, GO:0046715, GO:0022857, GO:0015301, GO:0015293, GO:0015252, GO:0015106, GO:0005452, GO:0005272, protein dimerization activity, active borate transmembrane transporter activity, transmembrane transporter activity, anion:anion antiporter activity, symporter activity, proton channel activity, bicarbonate transmembrane transporter activity, inorganic anion exchanger activity, sodium channel activity, GO:1902600, GO:0055085, GO:0050801, GO:0046713, GO:0042044, GO:0035725, GO:0035445, GO:0030003, GO:0015701, GO:0006814, proton transmembrane transport, transmembrane transport, ion homeostasis, borate transport, fluid transport, sodium ion transmembrane transport, borate transmembrane transport, cellular cation homeostasis, bicarbonate transport, sodium ion transport, 0 0 0 0 3 0 0 0 0 ENSG00000088854 chr20 3249305 3407625 - C20orf194 protein_coding This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]. 25943 GO:0005575, cellular_component, GO:0005515, protein binding, GO:0008150, biological_process, 7 8 11 33 19 33 21 16 16 ENSG00000088876 chr20 2481817 2524702 - ZNF343 protein_coding 79175 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 8 7 16 17 9 8 14 8 7 ENSG00000088881 chr20 2692878 2760108 + EBF4 protein_coding EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]. 57593 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046983, GO:0046872, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007275, GO:0006357, multicellular organism development, regulation of transcription by RNA polymerase II, 2 5 2 8 5 5 16 3 0 ENSG00000088882 chr20 2794069 2800637 - CPXM1 protein_coding This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]. 56265 GO:0005615, extracellular space, GO:0008270, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, GO:0016485, GO:0006518, protein processing, peptide metabolic process, 0 0 1 2 0 0 1 0 0 ENSG00000088888 chr20 3846799 3876123 + MAVS protein_coding This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral innate immunity. [provided by RefSeq, Jul 2020]. 57506 GO:0031966, GO:0016021, GO:0005778, GO:0005741, GO:0005741, GO:0005739, mitochondrial membrane, integral component of membrane, peroxisomal membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, GO:0050700, GO:0035591, GO:0019901, GO:0005515, CARD domain binding, signaling adaptor activity, protein kinase binding, protein binding, GO:1900063, GO:0071660, GO:0071651, GO:0071360, GO:0060760, GO:0060340, GO:0051607, GO:0051091, GO:0045944, GO:0045087, GO:0045087, GO:0045071, GO:0043123, GO:0042742, GO:0042307, GO:0032760, GO:0032760, GO:0032757, GO:0032755, GO:0032728, GO:0032728, GO:0032727, GO:0032727, GO:0032480, GO:0016032, GO:0007165, GO:0002735, GO:0002230, GO:0002230, GO:0002218, GO:0001934, regulation of peroxisome organization, positive regulation of IP-10 production, positive regulation of chemokine (C-C motif) ligand 5 production, cellular response to exogenous dsRNA, positive regulation of response to cytokine stimulus, positive regulation of type I interferon-mediated signaling pathway, defense response to virus, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, innate immune response, innate immune response, negative regulation of viral genome replication, positive regulation of I-kappaB kinase/NF-kappaB signaling, defense response to bacterium, positive regulation of protein import into nucleus, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of interferon-alpha production, negative regulation of type I interferon production, viral process, signal transduction, positive regulation of myeloid dendritic cell cytokine production, positive regulation of defense response to virus by host, positive regulation of defense response to virus by host, activation of innate immune response, positive regulation of protein phosphorylation, 586 805 826 584 886 782 719 662 830 ENSG00000088899 chr20 3162617 3173592 - LZTS3 protein_coding 9762 GO:0045202, GO:0043197, GO:0014069, GO:0005856, GO:0005737, synapse, dendritic spine, postsynaptic density, cytoskeleton, cytoplasm, GO:0061001, GO:0061001, regulation of dendritic spine morphogenesis, regulation of dendritic spine morphogenesis, 16 14 42 26 4 41 42 11 39 ENSG00000088926 chr4 186265945 186288806 + F11 protein_coding This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]. 2160 GO:0070062, GO:0016020, GO:0005886, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, membrane, plasma membrane, extracellular space, extracellular region, extracellular region, GO:0008201, GO:0005515, GO:0004252, heparin binding, protein binding, serine-type endopeptidase activity, GO:0051919, GO:0031639, GO:0007597, GO:0007596, GO:0007596, positive regulation of fibrinolysis, plasminogen activation, blood coagulation, intrinsic pathway, blood coagulation, blood coagulation, 0 0 0 0 0 0 0 0 2 ENSG00000088930 chr20 21303304 21389827 + XRN2 protein_coding This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 22803 GO:0016235, GO:0016020, GO:0005730, GO:0005654, GO:0005654, GO:0005634, aggresome, membrane, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0042802, GO:0008409, GO:0005515, GO:0004534, GO:0004534, GO:0004518, GO:0003723, GO:0003723, GO:0001147, GO:0000175, metal ion binding, identical protein binding, 5'-3' exonuclease activity, protein binding, 5'-3' exoribonuclease activity, 5'-3' exoribonuclease activity, nuclease activity, RNA binding, RNA binding, transcription termination site sequence-specific DNA binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0060041, GO:0030182, GO:0021766, GO:0016070, GO:0007283, GO:0006401, GO:0006397, GO:0006396, GO:0006364, GO:0006353, GO:0000956, GO:0000738, RNA phosphodiester bond hydrolysis, exonucleolytic, retina development in camera-type eye, neuron differentiation, hippocampus development, RNA metabolic process, spermatogenesis, RNA catabolic process, mRNA processing, RNA processing, rRNA processing, DNA-templated transcription, termination, nuclear-transcribed mRNA catabolic process, DNA catabolic process, exonucleolytic, 1824 1659 2078 991 1337 1342 1076 1061 1195 ENSG00000088970 chr20 21125983 21246622 + KIZ protein_coding The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]. 55857 GO:0042995, GO:0005813, GO:0005813, GO:0005737, cell projection, centrosome, centrosome, cytoplasm, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0007051, GO:0007051, spindle organization, spindle organization, 166 227 279 184 272 310 178 194 206 ENSG00000088986 chr12 120469850 120498493 + DYNLL1 protein_coding Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]. 8655 GO:0101003, GO:0097542, GO:0072686, GO:0070821, GO:0030286, GO:0016020, GO:0008180, GO:0005929, GO:0005886, GO:0005874, GO:0005868, GO:0005868, GO:0005868, GO:0005829, GO:0005813, GO:0005739, GO:0005737, GO:0005634, GO:0000776, ficolin-1-rich granule membrane, ciliary tip, mitotic spindle, tertiary granule membrane, dynein complex, membrane, COP9 signalosome, cilium, plasma membrane, microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, cytoplasmic dynein complex, cytosol, centrosome, mitochondrion, cytoplasm, nucleus, kinetochore, GO:0051959, GO:0045505, GO:0005515, GO:0003774, dynein light intermediate chain binding, dynein intermediate chain binding, protein binding, motor activity, GO:2000582, GO:0097711, GO:0060271, GO:0043312, GO:0042326, GO:0035735, GO:0021762, GO:0019886, GO:0016236, GO:0016032, GO:0010389, GO:0006915, GO:0006888, GO:0000086, positive regulation of ATP-dependent microtubule motor activity, plus-end-directed, ciliary basal body-plasma membrane docking, cilium assembly, neutrophil degranulation, negative regulation of phosphorylation, intraciliary transport involved in cilium assembly, substantia nigra development, antigen processing and presentation of exogenous peptide antigen via MHC class II, macroautophagy, viral process, regulation of G2/M transition of mitotic cell cycle, apoptotic process, endoplasmic reticulum to Golgi vesicle-mediated transport, G2/M transition of mitotic cell cycle, 120 148 180 173 251 192 147 180 151 ENSG00000088992 chr12 117038923 117099479 - TESC protein_coding 54997 GO:0032587, GO:0030027, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0001726, ruffle membrane, lamellipodium, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, ruffle, GO:0042803, GO:0019212, GO:0005515, GO:0005509, GO:0004860, GO:0000287, protein homodimerization activity, phosphatase inhibitor activity, protein binding, calcium ion binding, protein kinase inhibitor activity, magnesium ion binding, GO:0072659, GO:0071300, GO:0051604, GO:0050821, GO:0045893, GO:0045654, GO:0033628, GO:0032417, GO:0030854, GO:0030154, GO:0015031, GO:0010628, GO:0008285, GO:0006469, protein localization to plasma membrane, cellular response to retinoic acid, protein maturation, protein stabilization, positive regulation of transcription, DNA-templated, positive regulation of megakaryocyte differentiation, regulation of cell adhesion mediated by integrin, positive regulation of sodium:proton antiporter activity, positive regulation of granulocyte differentiation, cell differentiation, protein transport, positive regulation of gene expression, negative regulation of cell population proliferation, negative regulation of protein kinase activity, 49 111 52 36 105 53 26 89 36 ENSG00000089006 chr20 17941597 17968980 - SNX5 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]. 27131 GO:0097422, GO:0070685, GO:0048471, GO:0043231, GO:0031901, GO:0031313, GO:0031234, GO:0030905, GO:0030904, GO:0030659, GO:0005903, GO:0005829, GO:0005768, GO:0001891, GO:0001726, tubular endosome, macropinocytic cup, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, early endosome membrane, extrinsic component of endosome membrane, extrinsic component of cytoplasmic side of plasma membrane, retromer, tubulation complex, retromer complex, cytoplasmic vesicle membrane, brush border, cytosol, endosome, phagocytic cup, ruffle, GO:0080025, GO:0070273, GO:0045296, GO:0035091, GO:0035091, GO:0035091, GO:0034452, GO:0034452, GO:0031748, GO:0010314, GO:0005515, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-4-phosphate binding, cadherin binding, phosphatidylinositol binding, phosphatidylinositol binding, phosphatidylinositol binding, dynactin binding, dynactin binding, D1 dopamine receptor binding, phosphatidylinositol-5-phosphate binding, protein binding, GO:0046628, GO:0045893, GO:0045776, GO:0042147, GO:0042147, GO:0042147, GO:0035815, GO:0016241, GO:0007174, GO:0006907, GO:0006907, GO:0006886, positive regulation of insulin receptor signaling pathway, positive regulation of transcription, DNA-templated, negative regulation of blood pressure, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, positive regulation of renal sodium excretion, regulation of macroautophagy, epidermal growth factor catabolic process, pinocytosis, pinocytosis, intracellular protein transport, 139 159 269 200 132 337 227 104 155 ENSG00000089009 chr12 112405190 112418838 - RPL6 protein_coding This gene encodes a protein component of the 60S ribosomal subunit. This protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 6128 GO:0042788, GO:0036464, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, GO:0005791, GO:0005634, GO:0005634, polysomal ribosome, cytoplasmic ribonucleoprotein granule, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, rough endoplasmic reticulum, nucleus, nucleus, GO:0045296, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, GO:0003677, cadherin binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, DNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006355, GO:0002181, GO:0002181, GO:0000184, GO:0000027, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, regulation of transcription, DNA-templated, cytoplasmic translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal large subunit assembly, 870 651 1368 2563 1257 2627 1703 1113 1917 ENSG00000089012 chr20 1629152 1657779 - SIRPG protein_coding The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 55423 GO:0016021, GO:0016020, GO:0005886, GO:0005886, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0050900, GO:0050870, GO:0050870, GO:0050766, GO:0035556, GO:0022409, GO:0008285, GO:0008284, GO:0007267, GO:0007155, leukocyte migration, positive regulation of T cell activation, positive regulation of T cell activation, positive regulation of phagocytosis, intracellular signal transduction, positive regulation of cell-cell adhesion, negative regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, cell adhesion, 9 8 20 56 20 111 52 24 88 ENSG00000089022 chr12 111841978 111902238 + MAPKAPK5 protein_coding The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]. 8550 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0051019, GO:0009931, GO:0005524, GO:0005516, GO:0005515, GO:0004708, GO:0004683, GO:0004674, GO:0004674, GO:0004674, GO:0002039, protein threonine kinase activity, protein serine kinase activity, mitogen-activated protein kinase binding, calcium-dependent protein serine/threonine kinase activity, ATP binding, calmodulin binding, protein binding, MAP kinase kinase activity, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, p53 binding, GO:1904355, GO:1901796, GO:0090400, GO:0051973, GO:0046777, GO:0046777, GO:0035556, GO:0032212, GO:0032007, GO:0032007, GO:0018105, GO:0007265, GO:0007265, GO:0007165, GO:0006417, GO:0000187, GO:0000165, positive regulation of telomere capping, regulation of signal transduction by p53 class mediator, stress-induced premature senescence, positive regulation of telomerase activity, protein autophosphorylation, protein autophosphorylation, intracellular signal transduction, positive regulation of telomere maintenance via telomerase, negative regulation of TOR signaling, negative regulation of TOR signaling, peptidyl-serine phosphorylation, Ras protein signal transduction, Ras protein signal transduction, signal transduction, regulation of translation, activation of MAPK activity, MAPK cascade, 102 78 93 121 96 138 104 88 136 ENSG00000089041 chr12 121132819 121188032 + P2RX7 protein_coding The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]. 5027 GO:0098794, GO:0098793, GO:0032059, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005639, postsynapse, presynapse, bleb, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, integral component of nuclear inner membrane, GO:0042802, GO:0005524, GO:0005515, GO:0005102, GO:0004931, GO:0004931, GO:0001614, GO:0001530, identical protein binding, ATP binding, protein binding, signaling receptor binding, extracellularly ATP-gated cation channel activity, extracellularly ATP-gated cation channel activity, purinergic nucleotide receptor activity, lipopolysaccharide binding, GO:1905114, GO:1904172, GO:0097191, GO:0097190, GO:0071318, GO:0070588, GO:0060079, GO:0051899, GO:0051709, GO:0051495, GO:0046931, GO:0046931, GO:0045821, GO:0045794, GO:0045779, GO:0043409, GO:0035590, GO:0035585, GO:0034767, GO:0033198, GO:0032731, GO:0032060, GO:0032060, GO:0030501, GO:0019233, GO:0017121, GO:0010628, GO:0010524, GO:0007596, GO:0007166, GO:0002931, GO:0002028, cell surface receptor signaling pathway involved in cell-cell signaling, positive regulation of bleb assembly, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, cellular response to ATP, calcium ion transmembrane transport, excitatory postsynaptic potential, membrane depolarization, regulation of killing of cells of other organism, positive regulation of cytoskeleton organization, pore complex assembly, pore complex assembly, positive regulation of glycolytic process, negative regulation of cell volume, negative regulation of bone resorption, negative regulation of MAPK cascade, purinergic nucleotide receptor signaling pathway, calcium-mediated signaling using extracellular calcium source, positive regulation of ion transmembrane transport, response to ATP, positive regulation of interleukin-1 beta production, bleb assembly, bleb assembly, positive regulation of bone mineralization, sensory perception of pain, plasma membrane phospholipid scrambling, positive regulation of gene expression, positive regulation of calcium ion transport into cytosol, blood coagulation, cell surface receptor signaling pathway, response to ischemia, regulation of sodium ion transport, 10 6 35 46 6 29 28 6 16 ENSG00000089048 chr20 13714322 13784886 - ESF1 protein_coding 51575 GO:0005730, GO:0005654, GO:0005615, nucleolus, nucleoplasm, extracellular space, GO:0003723, GO:0003723, RNA binding, RNA binding, GO:0006364, rRNA processing, 12 5 13 45 20 112 34 16 39 ENSG00000089050 chr20 18486540 18497243 - RBBP9 protein_coding The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008]. 10741 GO:0005654, nucleoplasm, GO:0016787, GO:0005515, hydrolase activity, protein binding, GO:0042127, regulation of cell population proliferation, 16 15 56 33 11 37 42 12 26 ENSG00000089053 chr12 121308245 121399896 - ANAPC5 protein_coding This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]. 51433 GO:0005829, GO:0005680, GO:0005680, GO:0005654, GO:0005634, cytosol, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, nucleus, GO:0019903, protein phosphatase binding, GO:1901990, GO:0070979, GO:0070979, GO:0051301, GO:0045842, GO:0031145, GO:0031145, GO:0007049, GO:0006511, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, protein K11-linked ubiquitination, cell division, positive regulation of mitotic metaphase/anaphase transition, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, cell cycle, ubiquitin-dependent protein catabolic process, 306 394 443 392 331 373 409 246 265 ENSG00000089057 chr20 4852356 5010293 - SLC23A2 protein_coding The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]. 9962 GO:0016324, GO:0016323, GO:0016021, GO:0009925, GO:0005887, GO:0005886, GO:0005886, GO:0005737, apical plasma membrane, basolateral plasma membrane, integral component of membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0015229, GO:0008520, GO:0005215, L-ascorbic acid transmembrane transporter activity, L-ascorbate:sodium symporter activity, transporter activity, GO:0070904, GO:0019852, GO:0019852, GO:0019852, GO:0015882, GO:0006979, GO:0006814, transepithelial L-ascorbic acid transport, L-ascorbic acid metabolic process, L-ascorbic acid metabolic process, L-ascorbic acid metabolic process, L-ascorbic acid transmembrane transport, response to oxidative stress, sodium ion transport, 496 760 835 635 1169 993 724 764 848 ENSG00000089060 chr12 113298759 113359493 - SLC8B1 protein_coding SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]. 80024 GO:0042383, GO:0032592, GO:0030061, GO:0016020, GO:0005886, GO:0005743, sarcolemma, integral component of mitochondrial membrane, mitochondrial crista, membrane, plasma membrane, mitochondrial inner membrane, GO:0086038, GO:0086038, GO:0086038, GO:0042803, GO:0015368, GO:0008324, GO:0005432, GO:0005432, GO:0005432, calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential, calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential, calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential, protein homodimerization activity, calcium:cation antiporter activity, cation transmembrane transporter activity, calcium:sodium antiporter activity, calcium:sodium antiporter activity, calcium:sodium antiporter activity, GO:2001256, GO:1901623, GO:0099093, GO:0099093, GO:0086036, GO:0051560, GO:0051560, GO:0051480, GO:0050896, GO:0050796, GO:0042593, GO:0035725, GO:0006874, GO:0006851, GO:0006851, GO:0006851, GO:0006812, GO:0006811, regulation of store-operated calcium entry, regulation of lymphocyte chemotaxis, calcium export from the mitochondrion, calcium export from the mitochondrion, regulation of cardiac muscle cell membrane potential, mitochondrial calcium ion homeostasis, mitochondrial calcium ion homeostasis, regulation of cytosolic calcium ion concentration, response to stimulus, regulation of insulin secretion, glucose homeostasis, sodium ion transmembrane transport, cellular calcium ion homeostasis, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, cation transport, ion transport, 540 564 593 540 588 560 570 451 495 ENSG00000089063 chr20 5068232 5113103 - TMEM230 protein_coding This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]. 29058 GO:0055037, GO:0016021, GO:0008021, GO:0005802, GO:0005783, GO:0005776, GO:0005770, GO:0005769, recycling endosome, integral component of membrane, synaptic vesicle, trans-Golgi network, endoplasmic reticulum, autophagosome, late endosome, early endosome, GO:0048489, synaptic vesicle transport, 276 307 339 159 185 206 177 194 180 ENSG00000089091 chr20 18383367 18467281 - DZANK1 protein_coding This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. [provided by RefSeq, Dec 2018]. 55184 GO:0046872, metal ion binding, 4 7 12 13 3 10 12 3 29 ENSG00000089094 chr12 121429097 121581015 - KDM2B protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]. 84678 GO:0031519, GO:0005730, GO:0005694, GO:0005654, GO:0005634, GO:0005634, GO:0000785, PcG protein complex, nucleolus, chromosome, nucleoplasm, nucleus, nucleus, chromatin, GO:0051864, GO:0045322, GO:0032452, GO:0032452, GO:0019843, GO:0008270, GO:0005515, GO:0003712, GO:0003677, GO:0000978, histone demethylase activity (H3-K36 specific), unmethylated CpG binding, histone demethylase activity, histone demethylase activity, rRNA binding, zinc ion binding, protein binding, transcription coregulator activity, DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000178, GO:1902459, GO:0070544, GO:0055114, GO:0048596, GO:0043524, GO:0035518, GO:0030902, GO:0030901, GO:0030900, GO:0030307, GO:0021993, GO:0021678, GO:0021670, GO:0021592, GO:0021555, GO:0007283, GO:0006482, GO:0006357, GO:0000122, negative regulation of neural precursor cell proliferation, positive regulation of stem cell population maintenance, histone H3-K36 demethylation, oxidation-reduction process, embryonic camera-type eye morphogenesis, negative regulation of neuron apoptotic process, histone H2A monoubiquitination, hindbrain development, midbrain development, forebrain development, positive regulation of cell growth, initiation of neural tube closure, third ventricle development, lateral ventricle development, fourth ventricle development, midbrain-hindbrain boundary morphogenesis, spermatogenesis, protein demethylation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 130 139 265 184 216 239 179 141 153 ENSG00000089101 chr20 20052514 20360702 + CFAP61 protein_coding 26074 GO:0031514, GO:0005930, GO:0001536, motile cilium, axoneme, radial spoke stalk, GO:0044782, GO:0003341, cilium organization, cilium movement, 0 0 0 0 0 3 0 0 0 ENSG00000089116 chr12 113462034 113472280 - LHX5 protein_coding This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008]. 64211 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045893, GO:0030182, GO:0021937, GO:0021879, GO:0021846, GO:0021766, GO:0021702, GO:0021527, GO:0006357, positive regulation of transcription, DNA-templated, neuron differentiation, cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation, forebrain neuron differentiation, cell proliferation in forebrain, hippocampus development, cerebellar Purkinje cell differentiation, spinal cord association neuron differentiation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000089123 chr20 13389392 13638940 - TASP1 protein_coding This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 55617 GO:0005737, cytoplasm, GO:0042802, GO:0004298, GO:0004298, identical protein binding, threonine-type endopeptidase activity, threonine-type endopeptidase activity, GO:0051604, GO:0045893, GO:0006508, protein maturation, positive regulation of transcription, DNA-templated, proteolysis, 7 13 10 26 5 15 23 23 2 ENSG00000089127 chr12 112906777 112933222 + OAS1 protein_coding This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]. 4938 GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005576, membrane, cytosol, cytosol, cytosol, endoplasmic reticulum, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, extracellular region, GO:0046872, GO:0005524, GO:0005515, GO:0003725, GO:0003725, GO:0001730, GO:0001730, metal ion binding, ATP binding, protein binding, double-stranded RNA binding, double-stranded RNA binding, 2'-5'-oligoadenylate synthetase activity, 2'-5'-oligoadenylate synthetase activity, GO:0060700, GO:0060337, GO:0060333, GO:0051607, GO:0051607, GO:0045071, GO:0045071, GO:0042593, GO:0009615, GO:0006006, regulation of ribonuclease activity, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, defense response to virus, negative regulation of viral genome replication, negative regulation of viral genome replication, glucose homeostasis, response to virus, glucose metabolic process, 51 67 105 70 60 157 57 54 87 ENSG00000089154 chr12 120127203 120194710 - GCN1 protein_coding 10985 GO:0016020, GO:0005844, GO:0005840, GO:0005829, GO:0005737, membrane, polysome, ribosome, cytosol, cytoplasm, GO:0045296, GO:0043022, GO:0019901, GO:0019887, GO:0008135, GO:0003723, cadherin binding, ribosome binding, protein kinase binding, protein kinase regulator activity, translation factor activity, RNA binding, RNA binding, GO:1990253, GO:0045859, GO:0036003, GO:0034198, GO:0033674, GO:0006417, GO:0006412, cellular response to leucine starvation, regulation of protein kinase activity, positive regulation of transcription from RNA polymerase II promoter in response to stress, cellular response to amino acid starvation, positive regulation of kinase activity, regulation of translation, translation, 127 156 234 249 169 280 241 111 184 ENSG00000089157 chr12 120196686 120201235 - RPLP0 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6175 GO:1990904, GO:0098794, GO:0098794, GO:0070062, GO:0036464, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0014069, GO:0014069, GO:0005925, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005634, ribonucleoprotein complex, postsynapse, postsynapse, extracellular exosome, cytoplasmic ribonucleoprotein granule, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, postsynaptic density, postsynaptic density, focal adhesion, cytosol, cytosol, endoplasmic reticulum, cytoplasm, nucleus, GO:0070180, GO:0005515, GO:0003735, GO:0003735, GO:0003735, GO:0003723, large ribosomal subunit rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0035722, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, GO:0000027, interleukin-12-mediated signaling pathway, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal large subunit assembly, 721 440 1156 2415 962 2631 1624 809 1871 ENSG00000089159 chr12 120210439 120265771 - PXN protein_coding This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]. 5829 GO:0030027, GO:0005938, GO:0005925, GO:0005925, GO:0005925, GO:0005925, GO:0005911, GO:0005886, GO:0005886, GO:0005886, GO:0005875, GO:0005829, GO:0005829, GO:0005829, GO:0001725, lamellipodium, cell cortex, focal adhesion, focal adhesion, focal adhesion, focal adhesion, cell-cell junction, plasma membrane, plasma membrane, plasma membrane, microtubule associated complex, cytosol, cytosol, cytosol, stress fiber, GO:0046872, GO:0038191, GO:0031625, GO:0019903, GO:0019901, GO:0017166, GO:0008013, GO:0005515, GO:0005178, GO:0003712, metal ion binding, neuropilin binding, ubiquitin protein ligase binding, protein phosphatase binding, protein kinase binding, vinculin binding, beta-catenin binding, protein binding, integrin binding, transcription coregulator activity, GO:1903506, GO:0060396, GO:0051496, GO:0048010, GO:0043542, GO:0043542, GO:0034614, GO:0034446, GO:0007179, GO:0007179, GO:0007172, GO:0007165, GO:0007155, GO:0006936, regulation of nucleic acid-templated transcription, growth hormone receptor signaling pathway, positive regulation of stress fiber assembly, vascular endothelial growth factor receptor signaling pathway, endothelial cell migration, endothelial cell migration, cellular response to reactive oxygen species, substrate adhesion-dependent cell spreading, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, signal complex assembly, signal transduction, cell adhesion, muscle contraction, 7554 8340 10350 4777 7778 7193 5987 6207 6156 ENSG00000089163 chr12 120302316 120313249 + SIRT4 protein_coding This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]. 23409 GO:0005759, GO:0005759, GO:0005743, GO:0005739, mitochondrial matrix, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, GO:0070403, GO:0061690, GO:0047708, GO:0034979, GO:0008270, GO:0005515, GO:0003950, GO:0003950, NAD+ binding, lipoamidase activity, biotinidase activity, NAD-dependent protein deacetylase activity, zinc ion binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, GO:1904182, GO:1903217, GO:0072350, GO:0071456, GO:0046889, GO:0046676, GO:0046322, GO:0046322, GO:0034983, GO:0010667, GO:0007005, GO:0006974, GO:0006541, GO:0006471, GO:0006471, GO:0000820, regulation of pyruvate dehydrogenase activity, negative regulation of protein processing involved in protein targeting to mitochondrion, tricarboxylic acid metabolic process, cellular response to hypoxia, positive regulation of lipid biosynthetic process, negative regulation of insulin secretion, negative regulation of fatty acid oxidation, negative regulation of fatty acid oxidation, peptidyl-lysine deacetylation, negative regulation of cardiac muscle cell apoptotic process, mitochondrion organization, cellular response to DNA damage stimulus, glutamine metabolic process, protein ADP-ribosylation, protein ADP-ribosylation, regulation of glutamine family amino acid metabolic process, 0 1 0 0 0 1 1 1 0 ENSG00000089169 chr12 112570380 112898881 + RPH3A protein_coding The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]. 22895 GO:0045211, GO:0045202, GO:0043197, GO:0043005, GO:0032991, GO:0030672, GO:0030141, GO:0019898, GO:0008021, GO:0005829, GO:0005794, postsynaptic membrane, synapse, dendritic spine, neuron projection, protein-containing complex, synaptic vesicle membrane, secretory granule, extrinsic component of membrane, synaptic vesicle, cytosol, Golgi apparatus, GO:1901981, GO:0070679, GO:0044877, GO:0042301, GO:0031267, GO:0008430, GO:0008270, GO:0005546, GO:0005544, GO:0005515, GO:0005509, phosphatidylinositol phosphate binding, inositol 1,4,5 trisphosphate binding, protein-containing complex binding, phosphate ion binding, small GTPase binding, selenium binding, zinc ion binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, GO:0061669, GO:0006886, spontaneous neurotransmitter secretion, intracellular protein transport, 10 8 0 14 15 0 3 8 0 ENSG00000089177 chr20 16272104 16573434 - KIF16B protein_coding The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. 55614 GO:0045335, GO:0031901, GO:0005874, GO:0005871, GO:0005829, GO:0005769, GO:0005768, phagocytic vesicle, early endosome membrane, microtubule, kinesin complex, cytosol, early endosome, endosome, GO:0080025, GO:0043325, GO:0032266, GO:0031267, GO:0016887, GO:0008574, GO:0008574, GO:0008017, GO:0005547, GO:0005524, GO:0003777, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, small GTPase binding, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, phosphatidylinositol-3,4,5-trisphosphate binding, ATP binding, microtubule motor activity, GO:0071346, GO:0045022, GO:0032801, GO:0008543, GO:0007492, GO:0007173, GO:0007018, GO:0006895, GO:0001919, GO:0001704, cellular response to interferon-gamma, early endosome to late endosome transport, receptor catabolic process, fibroblast growth factor receptor signaling pathway, endoderm development, epidermal growth factor receptor signaling pathway, microtubule-based movement, Golgi to endosome transport, regulation of receptor recycling, formation of primary germ layer, 27 12 27 39 24 32 34 8 18 ENSG00000089195 chr20 5937235 5950558 - TRMT6 protein_coding This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 51605 GO:0031515, GO:0005654, GO:0005634, tRNA (m1A) methyltransferase complex, nucleoplasm, nucleus, GO:0016429, GO:0005515, GO:0003723, tRNA (adenine-N1-)-methyltransferase activity, protein binding, RNA binding, GO:0080009, GO:0030488, GO:0006400, mRNA methylation, tRNA methylation, tRNA modification, 46 25 59 77 35 79 43 35 38 ENSG00000089199 chr20 5911430 5925361 + CHGB protein_coding This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009]. 1114 GO:0030141, GO:0005788, GO:0005615, secretory granule, endoplasmic reticulum lumen, extracellular space, GO:0005515, GO:0005179, protein binding, hormone activity, GO:0044267, GO:0043687, GO:0007165, cellular protein metabolic process, post-translational protein modification, signal transduction, 0 0 6 0 0 0 0 0 3 ENSG00000089220 chr12 118135858 118145584 + PEBP1 protein_coding This gene encodes a member of the phosphatidylethanolamine-binding family of proteins and has been shown to modulate multiple signaling pathways, including the MAP kinase (MAPK), NF-kappa B, and glycogen synthase kinase-3 (GSK-3) signaling pathways. The encoded protein can be further processed to form a smaller cleavage product, hippocampal cholinergic neurostimulating peptide (HCNP), which may be involved in neural development. This gene has been implicated in numerous human cancers and may act as a metastasis suppressor gene. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Jul 2015]. 5037 GO:0070062, GO:0005829, GO:0005634, extracellular exosome, cytosol, nucleus, GO:0019901, GO:0019899, GO:0008429, GO:0005524, GO:0005515, GO:0004867, GO:0003723, protein kinase binding, enzyme binding, phosphatidylethanolamine binding, ATP binding, protein binding, serine-type endopeptidase inhibitor activity, RNA binding, GO:0043409, GO:0010951, GO:0000165, negative regulation of MAPK cascade, negative regulation of endopeptidase activity, MAPK cascade, 58 16 85 179 60 191 156 71 135 ENSG00000089225 chr12 114353931 114408442 - TBX5 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 6910 GO:0032993, GO:0032991, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, protein-DNA complex, protein-containing complex, cytoplasm, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0043565, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific DNA binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072513, GO:0060980, GO:0060413, GO:0060045, GO:0060044, GO:0060039, GO:0055007, GO:0051891, GO:0045944, GO:0045944, GO:0045893, GO:0035136, GO:0035115, GO:0035115, GO:0030336, GO:0030326, GO:0030324, GO:0010719, GO:0008285, GO:0007507, GO:0007507, GO:0007389, GO:0007267, GO:0006367, GO:0006357, GO:0003281, GO:0003218, GO:0003218, GO:0003197, GO:0003181, GO:0003166, GO:0002009, GO:0001708, positive regulation of secondary heart field cardioblast proliferation, cell migration involved in coronary vasculogenesis, atrial septum morphogenesis, positive regulation of cardiac muscle cell proliferation, negative regulation of cardiac muscle cell proliferation, pericardium development, cardiac muscle cell differentiation, positive regulation of cardioblast differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, forelimb morphogenesis, embryonic forelimb morphogenesis, embryonic forelimb morphogenesis, negative regulation of cell migration, embryonic limb morphogenesis, lung development, negative regulation of epithelial to mesenchymal transition, negative regulation of cell population proliferation, heart development, heart development, pattern specification process, cell-cell signaling, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, ventricular septum development, cardiac left ventricle formation, cardiac left ventricle formation, endocardial cushion development, atrioventricular valve morphogenesis, bundle of His development, morphogenesis of an epithelium, cell fate specification, 0 0 0 0 0 0 0 0 0 ENSG00000089234 chr12 111642146 111685986 - BRAP protein_coding The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]. 8315 GO:0031965, GO:0005829, GO:0005829, GO:0005737, GO:0000151, nuclear membrane, cytosol, cytosol, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0042802, GO:0008270, GO:0008139, GO:0005515, GO:0004842, GO:0003676, ubiquitin protein ligase activity, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, nuclear localization sequence binding, protein binding, ubiquitin-protein transferase activity, nucleic acid binding, GO:0016567, GO:0016567, GO:0009968, GO:0007265, GO:0000165, GO:0000165, protein ubiquitination, protein ubiquitination, negative regulation of signal transduction, Ras protein signal transduction, MAPK cascade, MAPK cascade, 219 229 256 199 294 177 168 221 201 ENSG00000089248 chr12 112013316 112023451 + ERP29 protein_coding This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 10961 GO:0042470, GO:0030133, GO:0016020, GO:0009986, GO:0005790, GO:0005788, GO:0005783, GO:0005783, melanosome, transport vesicle, membrane, cell surface, smooth endoplasmic reticulum, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:0051087, GO:0042803, GO:0005515, GO:0003756, chaperone binding, protein homodimerization activity, protein binding, protein disulfide isomerase activity, GO:1902235, GO:0050709, GO:0043335, GO:0010629, GO:0010628, GO:0009306, GO:0006886, GO:0006457, GO:0001934, GO:0000187, regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of protein secretion, protein unfolding, negative regulation of gene expression, positive regulation of gene expression, protein secretion, intracellular protein transport, protein folding, positive regulation of protein phosphorylation, activation of MAPK activity, 207 213 320 301 211 357 243 224 270 ENSG00000089250 chr12 117208142 117452170 - NOS1 protein_coding The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]. 4842 GO:1990425, GO:0071944, GO:0048471, GO:0045202, GO:0045121, GO:0043197, GO:0042383, GO:0032991, GO:0030315, GO:0030018, GO:0016529, GO:0014069, GO:0012506, GO:0005901, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0001917, ryanodine receptor complex, cell periphery, perinuclear region of cytoplasm, synapse, membrane raft, dendritic spine, sarcolemma, protein-containing complex, T-tubule, Z disc, sarcoplasmic reticulum, postsynaptic density, vesicle membrane, caveola, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, photoreceptor inner segment, GO:0097110, GO:0050661, GO:0050660, GO:0050660, GO:0048306, GO:0046870, GO:0044325, GO:0044325, GO:0034618, GO:0034617, GO:0020037, GO:0017080, GO:0016709, GO:0016491, GO:0010181, GO:0010181, GO:0005516, GO:0005515, GO:0004517, GO:0004517, GO:0004517, GO:0003958, scaffold protein binding, NADP binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, calcium-dependent protein binding, cadmium ion binding, ion channel binding, ion channel binding, arginine binding, tetrahydrobiopterin binding, heme binding, sodium channel regulator activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, FMN binding, FMN binding, calmodulin binding, protein binding, nitric-oxide synthase activity, nitric-oxide synthase activity, nitric-oxide synthase activity, NADPH-hemoprotein reductase activity, GO:1903779, GO:1902514, GO:1902307, GO:0140196, GO:0098924, GO:0098735, GO:0071363, GO:0060314, GO:0055117, GO:0055114, GO:0051926, GO:0051612, GO:0051346, GO:0050767, GO:0045944, GO:0045893, GO:0045776, GO:0045454, GO:0043267, GO:0042738, GO:0042311, GO:0042311, GO:0042136, GO:0035066, GO:0033555, GO:0033138, GO:0032496, GO:0031284, GO:0018119, GO:0010523, GO:0009725, GO:0009408, GO:0007520, GO:0007263, GO:0006941, GO:0006936, GO:0006809, GO:0006809, GO:0006527, GO:0006527, GO:0002028, GO:0001666, regulation of cardiac conduction, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, positive regulation of sodium ion transmembrane transport, positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process, retrograde trans-synaptic signaling by nitric oxide, positive regulation of the force of heart contraction, cellular response to growth factor stimulus, regulation of ryanodine-sensitive calcium-release channel activity, regulation of cardiac muscle contraction, oxidation-reduction process, negative regulation of calcium ion transport, negative regulation of serotonin uptake, negative regulation of hydrolase activity, regulation of neurogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of blood pressure, cell redox homeostasis, negative regulation of potassium ion transport, exogenous drug catabolic process, vasodilation, vasodilation, neurotransmitter biosynthetic process, positive regulation of histone acetylation, multicellular organismal response to stress, positive regulation of peptidyl-serine phosphorylation, response to lipopolysaccharide, positive regulation of guanylate cyclase activity, peptidyl-cysteine S-nitrosylation, negative regulation of calcium ion transport into cytosol, response to hormone, response to heat, myoblast fusion, nitric oxide mediated signal transduction, striated muscle contraction, muscle contraction, nitric oxide biosynthetic process, nitric oxide biosynthetic process, arginine catabolic process, arginine catabolic process, regulation of sodium ion transport, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000089280 chr16 31180110 31194871 + FUS protein_coding This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]. 2521 GO:0048471, GO:0044327, GO:0043204, GO:0005844, GO:0005654, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, dendritic spine head, perikaryon, polysome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046966, GO:0046965, GO:0046872, GO:0042802, GO:0035255, GO:0031489, GO:0030331, GO:0005515, GO:0003730, GO:0003723, GO:0003723, GO:0003723, GO:0003713, GO:0003712, GO:0003682, GO:0003677, thyroid hormone receptor binding, retinoid X receptor binding, metal ion binding, identical protein binding, ionotropic glutamate receptor binding, myosin V binding, estrogen receptor binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA binding, RNA binding, transcription coactivator activity, transcription coregulator activity, chromatin binding, DNA binding, GO:1905168, GO:1903508, GO:0071277, GO:0051260, GO:0048255, GO:0043484, GO:0008380, GO:0006357, GO:0006355, GO:0000398, positive regulation of double-strand break repair via homologous recombination, positive regulation of nucleic acid-templated transcription, cellular response to calcium ion, protein homooligomerization, mRNA stabilization, regulation of RNA splicing, RNA splicing, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, mRNA splicing, via spliceosome, 2889 3664 4385 4839 6672 6133 3977 3599 4074 ENSG00000089289 chrX 70133449 70166324 + IGBP1 protein_coding The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]. 3476 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0051721, GO:0019888, GO:0005515, protein phosphatase 2A binding, protein phosphatase regulator activity, protein binding, GO:0070555, GO:0060632, GO:0043666, GO:0043154, GO:0042113, GO:0035303, GO:0034612, GO:0032873, GO:0007165, GO:0000122, response to interleukin-1, regulation of microtubule-based movement, regulation of phosphoprotein phosphatase activity, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, B cell activation, regulation of dephosphorylation, response to tumor necrosis factor, negative regulation of stress-activated MAPK cascade, signal transduction, negative regulation of transcription by RNA polymerase II, 331 285 421 223 280 318 256 262 257 ENSG00000089327 chr19 35154730 35169883 + FXYD5 protein_coding This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]. 53827 GO:0016021, integral component of membrane, GO:0099106, GO:0045296, GO:0017080, GO:0005515, GO:0003779, ion channel regulator activity, cadherin binding, sodium channel regulator activity, protein binding, actin binding, GO:2000649, GO:0046588, GO:0030033, GO:0006811, regulation of sodium ion transmembrane transporter activity, negative regulation of calcium-dependent cell-cell adhesion, microvillus assembly, ion transport, 322 282 418 450 382 482 416 287 395 ENSG00000089335 chr19 34677639 34686397 + ZNF302 protein_coding This gene encodes a member of the zinc-finger protein family. The encoded protein contains seven C2H2-type zinc fingers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014]. 55900 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 43 44 50 72 69 113 70 44 75 ENSG00000089351 chr19 34994784 35026471 + GRAMD1A protein_coding 57655 GO:0140268, GO:0044232, GO:0031410, GO:0031234, GO:0031227, GO:0016021, GO:0005886, GO:0005829, GO:0005776, endoplasmic reticulum-plasma membrane contact site, organelle membrane contact site, cytoplasmic vesicle, extrinsic component of cytoplasmic side of plasma membrane, intrinsic component of endoplasmic reticulum membrane, integral component of membrane, plasma membrane, cytosol, autophagosome, GO:0120020, GO:0015485, GO:0005515, cholesterol transfer activity, cholesterol binding, protein binding, GO:0120009, GO:0071397, GO:0015918, GO:0006914, intermembrane lipid transfer, cellular response to cholesterol, sterol transport, autophagy, 2184 1800 3929 1516 2050 2063 1704 1596 1928 ENSG00000089356 chr19 35115879 35124324 + FXYD3 protein_coding This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]. 5349 GO:0070062, GO:0005887, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, GO:0099106, GO:0017080, GO:0005254, ion channel regulator activity, sodium channel regulator activity, chloride channel activity, GO:2000649, GO:1903779, GO:1902476, GO:0034220, GO:0006821, GO:0006814, GO:0006813, regulation of sodium ion transmembrane transporter activity, regulation of cardiac conduction, chloride transmembrane transport, ion transmembrane transport, chloride transport, sodium ion transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000089472 chrX 66162549 66268867 + HEPH protein_coding This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 9843 GO:0048471, GO:0016323, GO:0016021, GO:0005886, GO:0005886, perinuclear region of cytoplasm, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0016491, GO:0008198, GO:0005507, GO:0004322, GO:0004322, oxidoreductase activity, ferrous iron binding, copper ion binding, ferroxidase activity, ferroxidase activity, GO:0055114, GO:0055072, GO:0006879, GO:0006826, GO:0006826, GO:0006825, oxidation-reduction process, iron ion homeostasis, cellular iron ion homeostasis, iron ion transport, iron ion transport, copper ion transport, 0 2 0 0 1 0 0 0 0 ENSG00000089486 chr16 4510675 4538828 - CDIP1 protein_coding 29965 GO:0098574, GO:0098560, GO:0005634, GO:0005634, cytoplasmic side of lysosomal membrane, cytoplasmic side of late endosome membrane, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003674, metal ion binding, protein binding, molecular_function, GO:0042771, GO:0033209, GO:0006915, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, tumor necrosis factor-mediated signaling pathway, apoptotic process, 28 10 17 20 31 30 29 23 4 ENSG00000089505 chr16 66566393 66579137 + CMTM1 protein_coding This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CKLF (chemokine-like factor).[provided by RefSeq, Feb 2011]. 113540 GO:0016021, GO:0005615, integral component of membrane, extracellular space, GO:0005125, cytokine activity, GO:0007165, GO:0006935, signal transduction, chemotaxis, 90 49 144 23 25 56 39 24 47 ENSG00000089558 chr17 42156891 42181278 - KCNH4 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]. 23415 GO:0008076, GO:0005887, GO:0005886, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:0005249, voltage-gated potassium channel activity, GO:0071805, GO:0042391, GO:0034765, GO:0006813, potassium ion transmembrane transport, regulation of membrane potential, regulation of ion transmembrane transport, potassium ion transport, 4 3 6 1 7 5 0 0 0 ENSG00000089597 chr11 62624826 62646726 - GANAB protein_coding This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]. 23193 GO:0070062, GO:0043231, GO:0042470, GO:0017177, GO:0017177, GO:0016020, GO:0005794, GO:0005788, extracellular exosome, intracellular membrane-bounded organelle, melanosome, glucosidase II complex, glucosidase II complex, membrane, Golgi apparatus, endoplasmic reticulum lumen, GO:0090599, GO:0090599, GO:0033919, GO:0033919, GO:0030246, GO:0005515, GO:0004553, GO:0003723, alpha-glucosidase activity, alpha-glucosidase activity, glucan 1,3-alpha-glucosidase activity, glucan 1,3-alpha-glucosidase activity, carbohydrate binding, protein binding, hydrolase activity, hydrolyzing O-glycosyl compounds, RNA binding, GO:0006491, GO:0006491, GO:0006457, GO:0005975, N-glycan processing, N-glycan processing, protein folding, carbohydrate metabolic process, 822 934 1043 774 783 962 716 605 706 ENSG00000089639 chr19 19629476 19643667 - GMIP protein_coding This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 51291 GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005654, plasma membrane, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0046872, GO:0005515, GO:0005096, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0051056, GO:0035556, GO:0034260, GO:0034260, activation of GTPase activity, regulation of small GTPase mediated signal transduction, intracellular signal transduction, negative regulation of GTPase activity, negative regulation of GTPase activity, 7631 6917 8118 3899 5519 4520 4836 4473 4388 ENSG00000089682 chrX 107064420 107118823 - RBM41 protein_coding 55285 GO:0005689, U12-type spliceosomal complex, GO:0097157, GO:0030626, GO:0005515, pre-mRNA intronic binding, U12 snRNA binding, protein binding, GO:0000398, mRNA splicing, via spliceosome, 33 25 35 46 20 56 49 16 29 ENSG00000089685 chr17 78214186 78225636 + BIRC5 protein_coding This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 332 GO:0032133, GO:0030496, GO:0005876, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000777, GO:0000775, GO:0000228, chromosome passenger complex, midbody, spindle microtubule, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, condensed chromosome kinetochore, chromosome, centromeric region, nuclear chromosome, GO:0051087, GO:0046872, GO:0043027, GO:0042802, GO:0031267, GO:0019899, GO:0008017, GO:0005515, chaperone binding, metal ion binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, identical protein binding, small GTPase binding, enzyme binding, microtubule binding, protein binding, GO:0090307, GO:0051301, GO:0045892, GO:0043154, GO:0043066, GO:0043066, GO:0042981, GO:0031503, GO:0019221, GO:0008284, GO:0007605, GO:0007059, GO:0006915, GO:0006468, mitotic spindle assembly, cell division, negative regulation of transcription, DNA-templated, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, regulation of apoptotic process, protein-containing complex localization, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, sensory perception of sound, chromosome segregation, apoptotic process, protein phosphorylation, 1 0 0 4 0 0 3 0 2 ENSG00000089692 chr12 6772512 6778455 + LAG3 protein_coding Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008]. 3902 GO:0016021, GO:0009897, GO:0005886, GO:0005576, integral component of membrane, external side of plasma membrane, plasma membrane, extracellular region, GO:0042289, GO:0042289, GO:0005515, GO:0004888, GO:0003823, MHC class II protein binding, MHC class II protein binding, protein binding, transmembrane signaling receptor activity, antigen binding, GO:0050776, GO:0045954, GO:0045590, GO:0032703, GO:0019886, GO:0007166, GO:0002270, GO:0002250, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, negative regulation of regulatory T cell differentiation, negative regulation of interleukin-2 production, antigen processing and presentation of exogenous peptide antigen via MHC class II, cell surface receptor signaling pathway, plasmacytoid dendritic cell activation, adaptive immune response, 9 2 33 30 7 68 24 9 45 ENSG00000089693 chr12 6747996 6767475 - MLF2 protein_coding 8079 GO:0016020, GO:0005737, GO:0005634, membrane, cytoplasm, nucleus, GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 3046 3288 3676 1638 2678 2083 1859 2324 2000 ENSG00000089723 chr14 94026329 94048930 + OTUB2 protein_coding This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]. 78990 GO:0005634, GO:0005634, nucleus, nucleus, GO:0043130, GO:0019784, GO:0005515, GO:0004843, GO:0004843, GO:0004843, ubiquitin binding, NEDD8-specific protease activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:2000780, GO:1901315, GO:0071108, GO:0071108, GO:0070536, GO:0070536, GO:0035871, GO:0035871, GO:0016579, negative regulation of double-strand break repair, negative regulation of histone H2A K63-linked ubiquitination, protein K48-linked deubiquitination, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein K63-linked deubiquitination, protein K11-linked deubiquitination, protein K11-linked deubiquitination, protein deubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000089737 chr14 94048291 94081245 - DDX24 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008]. 57062 GO:0016020, GO:0005730, GO:0005730, membrane, nucleolus, nucleolus, GO:0005524, GO:0003724, GO:0003723, ATP binding, RNA helicase activity, RNA binding, GO:0016070, RNA metabolic process, 88 28 132 171 21 39 39 17 31 ENSG00000089775 chr14 64449106 64505213 - ZBTB25 protein_coding 7597 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0046872, GO:0005515, GO:0003700, GO:0001227, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 135 137 404 240 111 414 294 89 253 ENSG00000089818 chr12 8076939 8097859 + NECAP1 protein_coding This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 25977 GO:0030125, GO:0005905, GO:0005829, clathrin vesicle coat, clathrin-coated pit, cytosol, GO:0005515, protein binding, GO:0061024, GO:0016192, GO:0015031, GO:0006897, membrane organization, vesicle-mediated transport, protein transport, endocytosis, 1959 2207 3212 1317 1654 1759 1791 1256 1590 ENSG00000089820 chrX 153907367 153934999 - ARHGAP4 protein_coding This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 393 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0030336, GO:0007266, GO:0007010, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, negative regulation of cell migration, Rho protein signal transduction, cytoskeleton organization, 3066 2910 3498 3684 3826 3872 3576 2770 3076 ENSG00000089847 chr19 4183354 4224814 + ANKRD24 protein_coding 170961 2 0 2 2 10 3 12 8 14 ENSG00000089876 chr10 125836337 125896436 - DHX32 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]. 55760 GO:0005739, GO:0005681, GO:0005622, mitochondrion, spliceosomal complex, intracellular anatomical structure, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, 10 5 9 23 22 25 27 6 23 ENSG00000089902 chr14 102592661 102730576 + RCOR1 protein_coding This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]. 23186 GO:1990391, GO:0017053, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000118, DNA repair complex, transcription repressor complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, histone deacetylase complex, GO:0005515, GO:0003714, protein binding, transcription corepressor activity, GO:0070933, GO:0045892, GO:0045892, GO:0016575, GO:0016032, GO:0007596, GO:0006357, histone H4 deacetylation, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, histone deacetylation, viral process, blood coagulation, regulation of transcription by RNA polymerase II, 2508 2427 3063 1152 1760 1485 1218 1391 1269 ENSG00000089916 chr14 76151916 76254342 + GPATCH2L protein_coding 55668 GO:0005515, protein binding, 928 1155 1915 674 1055 1215 818 723 863 ENSG00000090006 chr19 40592883 40629818 + LTBP4 protein_coding The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]. 8425 GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular space, extracellular region, extracellular region, GO:0050431, GO:0050431, GO:0050431, GO:0005539, GO:0005515, GO:0005509, GO:0005201, GO:0005178, GO:0005024, transforming growth factor beta binding, transforming growth factor beta binding, transforming growth factor beta binding, glycosaminoglycan binding, protein binding, calcium ion binding, extracellular matrix structural constituent, integrin binding, transforming growth factor beta-activated receptor activity, GO:0045595, GO:0030252, GO:0030162, GO:0017015, GO:0007275, GO:0007179, GO:0006457, GO:0001558, regulation of cell differentiation, growth hormone secretion, regulation of proteolysis, regulation of transforming growth factor beta receptor signaling pathway, multicellular organism development, transforming growth factor beta receptor signaling pathway, protein folding, regulation of cell growth, 34 24 80 111 46 132 136 16 47 ENSG00000090013 chr19 40447765 40465840 - BLVRB protein_coding The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]. 645 GO:0070062, GO:0043231, GO:0043195, GO:0005886, GO:0005829, GO:0005829, GO:0005654, extracellular exosome, intracellular membrane-bounded organelle, terminal bouton, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0106277, GO:0106276, GO:0042602, GO:0005515, GO:0004074, biliverdin reductase (NADP+) activity, biliberdin reductase NAD+ activity, riboflavin reductase (NADPH) activity, protein binding, biliverdin reductase (NAD(P)+) activity, GO:0055114, GO:0042167, GO:0042167, oxidation-reduction process, heme catabolic process, heme catabolic process, 76 70 112 47 113 72 68 84 52 ENSG00000090020 chr1 27098815 27166981 - SLC9A1 protein_coding This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]. 6548 GO:0090533, GO:0070062, GO:0048471, GO:0045121, GO:0030315, GO:0030027, GO:0016324, GO:0016323, GO:0016021, GO:0014704, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005739, GO:0005737, GO:0005654, cation-transporting ATPase complex, extracellular exosome, perinuclear region of cytoplasm, membrane raft, T-tubule, lamellipodium, apical plasma membrane, basolateral plasma membrane, integral component of membrane, intercalated disc, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, cytoplasm, nucleoplasm, GO:0086040, GO:0060090, GO:0048306, GO:0030674, GO:0030346, GO:0030346, GO:0015386, GO:0015385, GO:0015385, GO:0015385, GO:0015299, GO:0005546, GO:0005516, GO:0005515, sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential, molecular adaptor activity, calcium-dependent protein binding, protein-macromolecule adaptor activity, protein phosphatase 2B binding, protein phosphatase 2B binding, potassium:proton antiporter activity, sodium:proton antiporter activity, sodium:proton antiporter activity, sodium:proton antiporter activity, solute:proton antiporter activity, phosphatidylinositol-4,5-bisphosphate binding, calmodulin binding, protein binding, GO:1903281, GO:1902600, GO:0098735, GO:0098719, GO:0098719, GO:0098656, GO:0086092, GO:0086036, GO:0086003, GO:0071872, GO:0071805, GO:0071468, GO:0071468, GO:0071456, GO:0071260, GO:0071257, GO:0071236, GO:0070997, GO:0070886, GO:0070417, GO:0055007, GO:0051930, GO:0051893, GO:0051492, GO:0051453, GO:0051453, GO:0051259, GO:0045944, GO:0045760, GO:0043066, GO:0043065, GO:0036376, GO:0035994, GO:0035794, GO:0032869, GO:0030307, GO:0030214, GO:0030011, GO:0016477, GO:0010882, GO:0010613, GO:0010447, GO:0006885, GO:0006885, GO:0006883, GO:0006811, positive regulation of calcium:sodium antiporter activity, proton transmembrane transport, positive regulation of the force of heart contraction, sodium ion import across plasma membrane, sodium ion import across plasma membrane, anion transmembrane transport, regulation of the force of heart contraction by cardiac conduction, regulation of cardiac muscle cell membrane potential, cardiac muscle cell contraction, cellular response to epinephrine stimulus, potassium ion transmembrane transport, cellular response to acidic pH, cellular response to acidic pH, cellular response to hypoxia, cellular response to mechanical stimulus, cellular response to electrical stimulus, cellular response to antibiotic, neuron death, positive regulation of calcineurin-NFAT signaling cascade, cellular response to cold, cardiac muscle cell differentiation, regulation of sensory perception of pain, regulation of focal adhesion assembly, regulation of stress fiber assembly, regulation of intracellular pH, regulation of intracellular pH, protein complex oligomerization, positive regulation of transcription by RNA polymerase II, positive regulation of action potential, negative regulation of apoptotic process, positive regulation of apoptotic process, sodium ion export across plasma membrane, response to muscle stretch, positive regulation of mitochondrial membrane permeability, cellular response to insulin stimulus, positive regulation of cell growth, hyaluronan catabolic process, maintenance of cell polarity, cell migration, regulation of cardiac muscle contraction by calcium ion signaling, positive regulation of cardiac muscle hypertrophy, response to acidic pH, regulation of pH, regulation of pH, cellular sodium ion homeostasis, ion transport, 1116 1127 2015 925 1041 1299 1003 719 1187 ENSG00000090054 chr9 92000087 92115384 - SPTLC1 protein_coding This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]. 10558 GO:0035339, GO:0017059, GO:0016021, GO:0005789, GO:0005783, GO:0005783, SPOTS complex, serine C-palmitoyltransferase complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0030170, GO:0005515, GO:0004758, GO:0004758, GO:0004758, pyridoxal phosphate binding, protein binding, serine C-palmitoyltransferase activity, serine C-palmitoyltransferase activity, serine C-palmitoyltransferase activity, GO:1904649, GO:1904504, GO:0046513, GO:0046513, GO:0046512, GO:0046511, GO:0030148, GO:0030148, GO:0006686, GO:0006665, regulation of fat cell apoptotic process, positive regulation of lipophagy, ceramide biosynthetic process, ceramide biosynthetic process, sphingosine biosynthetic process, sphinganine biosynthetic process, sphingolipid biosynthetic process, sphingolipid biosynthetic process, sphingomyelin biosynthetic process, sphingolipid metabolic process, 516 487 623 323 544 504 422 402 439 ENSG00000090060 chr14 96501433 96567111 + PAPOLA protein_coding The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 10914 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0030145, GO:0005524, GO:0005515, GO:0004652, GO:0004652, GO:0004652, GO:0004652, GO:0003723, GO:0000287, manganese ion binding, ATP binding, protein binding, polynucleotide adenylyltransferase activity, polynucleotide adenylyltransferase activity, polynucleotide adenylyltransferase activity, polynucleotide adenylyltransferase activity, RNA binding, magnesium ion binding, GO:0043631, GO:0031440, GO:0031124, GO:0006378, GO:0006378, GO:0006369, GO:0000398, RNA polyadenylation, regulation of mRNA 3'-end processing, mRNA 3'-end processing, mRNA polyadenylation, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 2910 2699 3633 1495 2309 1986 1645 1899 1429 ENSG00000090061 chr14 99481169 99535044 + CCNK protein_coding The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]. 8812 GO:0008024, GO:0005654, GO:0005654, GO:0005634, GO:0002945, GO:0002944, cyclin/CDK positive transcription elongation factor complex, nucleoplasm, nucleoplasm, nucleus, cyclin K-CDK13 complex, cyclin K-CDK12 complex, GO:0061575, GO:0019901, GO:0016538, GO:0008353, GO:0005515, GO:0004693, cyclin-dependent protein serine/threonine kinase activator activity, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, RNA polymerase II CTD heptapeptide repeat kinase activity, protein binding, cyclin-dependent protein serine/threonine kinase activity, GO:2001165, GO:0051301, GO:0045944, GO:0045737, GO:0044828, GO:0042795, GO:0032786, GO:0007049, GO:0006974, GO:0006468, GO:0006368, GO:0006366, GO:0006357, GO:0000079, positive regulation of phosphorylation of RNA polymerase II C-terminal domain serine 2 residues, cell division, positive regulation of transcription by RNA polymerase II, positive regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation by host of viral genome replication, snRNA transcription by RNA polymerase II, positive regulation of DNA-templated transcription, elongation, cell cycle, cellular response to DNA damage stimulus, protein phosphorylation, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 2025 2296 3040 1295 1655 2013 1530 1408 1584 ENSG00000090097 chr3 51957454 51974016 - PCBP4 protein_coding This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008]. 57060 GO:0005829, GO:0005829, GO:0005737, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, GO:0003730, GO:0003729, GO:0003723, GO:0003723, GO:0003677, mRNA 3'-UTR binding, mRNA binding, RNA binding, RNA binding, DNA binding, GO:0051252, GO:0048025, GO:0043488, GO:0010468, GO:0006977, regulation of RNA metabolic process, negative regulation of mRNA splicing, via spliceosome, regulation of mRNA stability, regulation of gene expression, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, 7 13 11 47 11 27 38 8 36 ENSG00000090104 chr1 192575727 192580031 + RGS1 protein_coding This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]. 5996 GO:0031234, GO:0005886, GO:0005829, extrinsic component of cytoplasmic side of plasma membrane, plasma membrane, cytosol, GO:0005516, GO:0005096, GO:0003924, GO:0001965, calmodulin binding, GTPase activator activity, GTPase activity, G-protein alpha-subunit binding, GO:0061737, GO:0043547, GO:0009968, GO:0009617, GO:0008277, GO:0007193, GO:0007186, GO:0007186, GO:0007165, GO:0006955, leukotriene signaling pathway, positive regulation of GTPase activity, negative regulation of signal transduction, response to bacterium, regulation of G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, immune response, 117 132 320 542 163 672 869 321 603 ENSG00000090238 chr16 30092314 30096915 - YPEL3 protein_coding 83719 GO:0005730, nucleolus, GO:0046872, metal ion binding, GO:2000774, positive regulation of cellular senescence, 6950 8809 8464 4794 8989 6802 5161 7478 6243 ENSG00000090263 chr7 141002610 141015228 - MRPS33 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008]. 51650 GO:0005763, GO:0005743, GO:0005739, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 15 4 22 41 20 33 19 0 24 ENSG00000090266 chr7 140690777 140722790 + NDUFB2 protein_coding The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]. 4708 GO:0005747, GO:0005747, GO:0005747, GO:0005743, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 134 127 164 117 96 81 86 85 67 ENSG00000090273 chr1 26900238 26946862 + NUDC protein_coding This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012]. 10726 GO:0005874, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, microtubule, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0051082, GO:0045296, GO:0005515, unfolded protein binding, cadherin binding, protein binding, GO:0051301, GO:0032502, GO:0007049, GO:0006457, cell division, developmental process, cell cycle, protein folding, 300 273 302 242 294 284 239 217 211 ENSG00000090316 chr4 1289851 1340147 + MAEA protein_coding This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 10296 GO:0034657, GO:0016363, GO:0005887, GO:0005856, GO:0005826, GO:0005819, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000151, GID complex, nuclear matrix, integral component of plasma membrane, cytoskeleton, actomyosin contractile ring, spindle, cytoplasm, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, GO:0046872, GO:0004842, GO:0003779, metal ion binding, ubiquitin-protein transferase activity, actin binding, GO:0051301, GO:0048822, GO:0045721, GO:0043249, GO:0043161, GO:0043066, GO:0033033, GO:0016567, GO:0007346, GO:0007155, GO:0007049, GO:0007010, cell division, enucleate erythrocyte development, negative regulation of gluconeogenesis, erythrocyte maturation, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, negative regulation of myeloid cell apoptotic process, protein ubiquitination, regulation of mitotic cell cycle, cell adhesion, cell cycle, cytoskeleton organization, 1738 1484 2126 1130 1281 1285 1195 891 1063 ENSG00000090339 chr19 10270835 10286615 + ICAM1 protein_coding This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]. 3383 GO:0070062, GO:0070062, GO:0062023, GO:0045121, GO:0016020, GO:0009986, GO:0009897, GO:0005925, GO:0005887, GO:0005886, GO:0005615, GO:0001772, extracellular exosome, extracellular exosome, collagen-containing extracellular matrix, membrane raft, membrane, cell surface, external side of plasma membrane, focal adhesion, integral component of plasma membrane, plasma membrane, extracellular space, immunological synapse, GO:0038023, GO:0005515, GO:0005178, GO:0005178, GO:0005178, GO:0004888, GO:0001618, signaling receptor activity, protein binding, integrin binding, integrin binding, integrin binding, transmembrane signaling receptor activity, virus receptor activity, GO:2000352, GO:1990830, GO:1904996, GO:1904646, GO:1902042, GO:1900027, GO:0097368, GO:0090557, GO:0072683, GO:0071549, GO:0071456, GO:0071356, GO:0071354, GO:0071347, GO:0071333, GO:0071312, GO:0071222, GO:0070374, GO:0061028, GO:0060333, GO:0051926, GO:0051092, GO:0050900, GO:0050776, GO:0050731, GO:0046813, GO:0046718, GO:0046688, GO:0045907, GO:0045471, GO:0045429, GO:0044406, GO:0043547, GO:0043200, GO:0042493, GO:0034698, GO:0033627, GO:0032868, GO:0031669, GO:0030838, GO:0030198, GO:0022614, GO:0019221, GO:0010477, GO:0010212, GO:0008360, GO:0007605, GO:0007569, GO:0007159, GO:0007157, GO:0007155, GO:0007155, GO:0002693, GO:0002457, GO:0002438, GO:0002291, GO:0001975, GO:0001910, GO:0001541, negative regulation of endothelial cell apoptotic process, cellular response to leukemia inhibitory factor, positive regulation of leukocyte adhesion to vascular endothelial cell, cellular response to amyloid-beta, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of ruffle assembly, establishment of Sertoli cell barrier, establishment of endothelial intestinal barrier, T cell extravasation, cellular response to dexamethasone stimulus, cellular response to hypoxia, cellular response to tumor necrosis factor, cellular response to interleukin-6, cellular response to interleukin-1, cellular response to glucose stimulus, cellular response to alkaloid, cellular response to lipopolysaccharide, positive regulation of ERK1 and ERK2 cascade, establishment of endothelial barrier, interferon-gamma-mediated signaling pathway, negative regulation of calcium ion transport, positive regulation of NF-kappaB transcription factor activity, leukocyte migration, regulation of immune response, positive regulation of peptidyl-tyrosine phosphorylation, receptor-mediated virion attachment to host cell, viral entry into host cell, response to copper ion, positive regulation of vasoconstriction, response to ethanol, positive regulation of nitric oxide biosynthetic process, adhesion of symbiont to host, positive regulation of GTPase activity, response to amino acid, response to drug, response to gonadotropin, cell adhesion mediated by integrin, response to insulin, cellular response to nutrient levels, positive regulation of actin filament polymerization, extracellular matrix organization, membrane to membrane docking, cytokine-mediated signaling pathway, response to sulfur dioxide, response to ionizing radiation, regulation of cell shape, sensory perception of sound, cell aging, leukocyte cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, cell adhesion, cell adhesion, positive regulation of cellular extravasation, T cell antigen processing and presentation, acute inflammatory response to antigenic stimulus, T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, response to amphetamine, regulation of leukocyte mediated cytotoxicity, ovarian follicle development, 2619 3178 5515 5104 5539 11102 6778 5692 10029 ENSG00000090372 chr19 46719507 46746994 - STRN4 protein_coding 29888 GO:0090443, GO:0043197, GO:0030425, GO:0016020, GO:0005737, FAR/SIN/STRIPAK complex, dendritic spine, dendrite, membrane, cytoplasm, GO:0070016, GO:0070016, GO:0051721, GO:0051721, GO:0044877, GO:0044877, GO:0005516, GO:0005516, GO:0005515, armadillo repeat domain binding, armadillo repeat domain binding, protein phosphatase 2A binding, protein phosphatase 2A binding, protein-containing complex binding, protein-containing complex binding, calmodulin binding, calmodulin binding, protein binding, GO:0008150, biological_process, 1245 1257 1541 970 1407 1301 1104 1267 1188 ENSG00000090376 chr12 66188879 66254622 + IRAK3 protein_coding This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 11213 GO:0005886, GO:0005737, GO:0005737, GO:0005634, GO:0005634, plasma membrane, cytoplasm, cytoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0046982, GO:0042803, GO:0005524, GO:0005515, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein heterodimerization activity, protein homodimerization activity, ATP binding, protein binding, protein serine/threonine kinase activity, magnesium ion binding, GO:0070555, GO:0070498, GO:0070498, GO:0051092, GO:0051092, GO:0046777, GO:0045824, GO:0043407, GO:0043407, GO:0043330, GO:0043244, GO:0043242, GO:0042177, GO:0035556, GO:0034122, GO:0032720, GO:0032720, GO:0032715, GO:0032715, GO:0032695, GO:0032695, GO:0032695, GO:0032496, GO:0032494, GO:0032088, GO:0019221, GO:0019221, GO:0010936, GO:0010933, GO:0009615, GO:0006468, GO:0002755, GO:0001960, response to interleukin-1, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, protein autophosphorylation, negative regulation of innate immune response, negative regulation of MAP kinase activity, negative regulation of MAP kinase activity, response to exogenous dsRNA, regulation of protein-containing complex disassembly, negative regulation of protein-containing complex disassembly, negative regulation of protein catabolic process, intracellular signal transduction, negative regulation of toll-like receptor signaling pathway, negative regulation of tumor necrosis factor production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-6 production, negative regulation of interleukin-12 production, negative regulation of interleukin-12 production, negative regulation of interleukin-12 production, response to lipopolysaccharide, response to peptidoglycan, negative regulation of NF-kappaB transcription factor activity, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, negative regulation of macrophage cytokine production, positive regulation of macrophage tolerance induction, response to virus, protein phosphorylation, MyD88-dependent toll-like receptor signaling pathway, negative regulation of cytokine-mediated signaling pathway, 792 568 2037 613 560 1348 788 381 1056 ENSG00000090382 chr12 69348341 69354234 + LYZ protein_coding This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]. 4069 GO:1904724, GO:0070062, GO:0035580, GO:0035578, GO:0005615, GO:0005615, GO:0005615, GO:0005576, tertiary granule lumen, extracellular exosome, specific granule lumen, azurophil granule lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0003796, GO:0003796, identical protein binding, lysozyme activity, lysozyme activity, GO:0050830, GO:0050830, GO:0050829, GO:0044267, GO:0043312, GO:0042742, GO:0031640, GO:0019835, GO:0019730, GO:0006954, GO:0001895, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, cellular protein metabolic process, neutrophil degranulation, defense response to bacterium, killing of cells of other organism, cytolysis, antimicrobial humoral response, inflammatory response, retina homeostasis, 7340 4909 3079 1958 3849 1899 2633 3559 1610 ENSG00000090402 chr3 164978898 165078495 - SI protein_coding This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]. 6476 GO:0070062, GO:0016324, GO:0016021, GO:0005903, GO:0005886, GO:0005794, extracellular exosome, apical plasma membrane, integral component of membrane, brush border, plasma membrane, Golgi apparatus, GO:0030246, GO:0004575, GO:0004574, GO:0004558, GO:0004553, carbohydrate binding, sucrose alpha-glucosidase activity, oligo-1,6-glucosidase activity, alpha-1,4-glucosidase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0044245, GO:0005975, polysaccharide digestion, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000090432 chr1 20499448 20508161 - MUL1 protein_coding 79594 GO:0043025, GO:0031307, GO:0030424, GO:0016020, GO:0005777, GO:0005739, GO:0005739, GO:0005739, neuronal cell body, integral component of mitochondrial outer membrane, axon, membrane, peroxisome, mitochondrion, mitochondrion, mitochondrion, GO:0061630, GO:0046872, GO:0042802, GO:0031625, GO:0019789, GO:0005515, GO:0004842, GO:0002039, ubiquitin protein ligase activity, metal ion binding, identical protein binding, ubiquitin protein ligase binding, SUMO transferase activity, protein binding, ubiquitin-protein transferase activity, p53 binding, GO:1904925, GO:1903861, GO:1901028, GO:0090141, GO:0071650, GO:0071360, GO:0060339, GO:0051898, GO:0051881, GO:0051646, GO:0050821, GO:0050689, GO:0045824, GO:0043123, GO:0033235, GO:0031648, GO:0030308, GO:0016925, GO:0016567, GO:0016567, GO:0010821, GO:0010637, GO:0007257, GO:0006919, GO:0006915, GO:0000266, GO:0000209, positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization, positive regulation of dendrite extension, regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, positive regulation of mitochondrial fission, negative regulation of chemokine (C-C motif) ligand 5 production, cellular response to exogenous dsRNA, negative regulation of type I interferon-mediated signaling pathway, negative regulation of protein kinase B signaling, regulation of mitochondrial membrane potential, mitochondrion localization, protein stabilization, negative regulation of defense response to virus by host, negative regulation of innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of protein sumoylation, protein destabilization, negative regulation of cell growth, protein sumoylation, protein ubiquitination, protein ubiquitination, regulation of mitochondrion organization, negative regulation of mitochondrial fusion, activation of JUN kinase activity, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, mitochondrial fission, protein polyubiquitination, 266 325 307 106 137 142 106 121 134 ENSG00000090447 chr16 4257186 4273075 - TFAP4 protein_coding Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]. 7023 GO:0017053, GO:0005739, GO:0005654, GO:0005634, GO:0005634, GO:0000785, transcription repressor complex, mitochondrion, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0070888, GO:0043565, GO:0042826, GO:0042803, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, E-box binding, sequence-specific DNA binding, histone deacetylase binding, protein homodimerization activity, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001269, GO:1901990, GO:0071549, GO:0071157, GO:0065003, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0045736, GO:0043923, GO:0043922, GO:0043922, GO:0043392, GO:0043065, GO:0008285, GO:0006978, GO:0006357, positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, regulation of mitotic cell cycle phase transition, cellular response to dexamethasone stimulus, negative regulation of cell cycle arrest, protein-containing complex assembly, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation by host of viral transcription, negative regulation by host of viral transcription, negative regulation by host of viral transcription, negative regulation of DNA binding, positive regulation of apoptotic process, negative regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, regulation of transcription by RNA polymerase II, 2 4 1 10 12 29 25 14 27 ENSG00000090470 chr15 65117379 65133836 - PDCD7 protein_coding This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010]. 10081 GO:0005689, GO:0005654, U12-type spliceosomal complex, nucleoplasm, GO:0051384, GO:0008380, GO:0006915, GO:0000398, response to glucocorticoid, RNA splicing, apoptotic process, mRNA splicing, via spliceosome, 39 32 76 79 29 93 68 18 57 ENSG00000090487 chr15 64963021 64990310 - SPG21 protein_coding The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. 51324 GO:0043231, GO:0030140, GO:0010008, GO:0005829, GO:0005794, intracellular membrane-bounded organelle, trans-Golgi network transport vesicle, endosome membrane, cytosol, Golgi apparatus, GO:0042609, GO:0005515, CD4 receptor binding, protein binding, GO:0050851, antigen receptor-mediated signaling pathway, 1224 1293 1358 960 1408 1139 1027 1172 898 ENSG00000090512 chr3 186635969 186653141 + FETUB protein_coding The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008]. 26998 GO:0070062, GO:0005576, extracellular exosome, extracellular region, GO:0008191, GO:0008191, GO:0005515, GO:0004869, GO:0004866, GO:0003674, metalloendopeptidase inhibitor activity, metalloendopeptidase inhibitor activity, protein binding, cysteine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, molecular_function, GO:0010951, GO:0010951, GO:0008150, GO:0007339, GO:0007339, GO:0007338, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, biological_process, binding of sperm to zona pellucida, binding of sperm to zona pellucida, single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000090520 chr3 186567403 186585800 + DNAJB11 protein_coding This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]. 51726 GO:0016020, GO:0005788, GO:0005783, GO:0005783, membrane, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:0051604, GO:0036498, GO:0032781, GO:0006457, protein maturation, IRE1-mediated unfolded protein response, positive regulation of ATPase activity, protein folding, 526 648 713 593 795 1174 718 598 1142 ENSG00000090530 chr3 189956728 190122437 - P3H2 protein_coding This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 55214 GO:0016529, GO:0005794, GO:0005788, GO:0005783, GO:0005783, GO:0005654, GO:0005604, sarcoplasmic reticulum, Golgi apparatus, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, nucleoplasm, basement membrane, GO:0031418, GO:0019797, GO:0019797, GO:0005506, L-ascorbic acid binding, procollagen-proline 3-dioxygenase activity, procollagen-proline 3-dioxygenase activity, iron ion binding, GO:0055114, GO:0032963, GO:0032963, GO:0019511, GO:0008285, oxidation-reduction process, collagen metabolic process, collagen metabolic process, peptidyl-proline hydroxylation, negative regulation of cell population proliferation, 0 0 1 1 0 0 0 0 0 ENSG00000090534 chr3 184371935 184381968 - THPO protein_coding Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]. 7066 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008083, GO:0005179, GO:0005125, GO:0005102, growth factor activity, hormone activity, cytokine activity, signaling receptor binding, GO:1902035, GO:1902035, GO:0097696, GO:0070374, GO:0070374, GO:0051897, GO:0051897, GO:0045654, GO:0043410, GO:0038163, GO:0038163, GO:0038163, GO:0035855, GO:0008284, GO:0008283, GO:0007275, GO:0001934, positive regulation of hematopoietic stem cell proliferation, positive regulation of hematopoietic stem cell proliferation, receptor signaling pathway via STAT, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of megakaryocyte differentiation, positive regulation of MAPK cascade, thrombopoietin-mediated signaling pathway, thrombopoietin-mediated signaling pathway, thrombopoietin-mediated signaling pathway, megakaryocyte development, positive regulation of cell population proliferation, cell population proliferation, multicellular organism development, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000090539 chr3 184380073 184390736 + CHRD protein_coding This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]. 8646 GO:0005615, extracellular space, GO:0045545, GO:0019955, GO:0008201, GO:0005515, syndecan binding, cytokine binding, heparin binding, protein binding, GO:0045785, GO:0045668, GO:0033504, GO:0030900, GO:0030514, GO:0030336, GO:0021919, GO:0002053, GO:0001707, GO:0001702, GO:0001649, GO:0001501, positive regulation of cell adhesion, negative regulation of osteoblast differentiation, floor plate development, forebrain development, negative regulation of BMP signaling pathway, negative regulation of cell migration, BMP signaling pathway involved in spinal cord dorsal/ventral patterning, positive regulation of mesenchymal cell proliferation, mesoderm formation, gastrulation with mouth forming second, osteoblast differentiation, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000090554 chr19 49474207 49486231 + FLT3LG protein_coding Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]. 2323 GO:0031233, GO:0016021, GO:0016020, GO:0009986, GO:0005615, GO:0005576, intrinsic component of external side of plasma membrane, integral component of membrane, membrane, cell surface, extracellular space, extracellular region, GO:0030971, GO:0005515, GO:0005125, GO:0005102, receptor tyrosine kinase binding, protein binding, cytokine activity, signaling receptor binding, GO:1901741, GO:0090290, GO:0071866, GO:0071864, GO:0048873, GO:0045944, GO:0045787, GO:0045663, GO:0035162, GO:0032825, GO:0030885, GO:0030098, GO:0019221, GO:0008284, GO:0008284, GO:0007165, GO:0001934, GO:0000165, positive regulation of myoblast fusion, positive regulation of osteoclast proliferation, negative regulation of apoptotic process in bone marrow cell, positive regulation of cell proliferation in bone marrow, homeostasis of number of cells within a tissue, positive regulation of transcription by RNA polymerase II, positive regulation of cell cycle, positive regulation of myoblast differentiation, embryonic hemopoiesis, positive regulation of natural killer cell differentiation, regulation of myeloid dendritic cell activation, lymphocyte differentiation, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, signal transduction, positive regulation of protein phosphorylation, MAPK cascade, 5 6 7 11 9 10 17 8 7 ENSG00000090565 chr16 425619 523011 + RAB11FIP3 protein_coding Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]. 9727 GO:0055038, GO:0055037, GO:0045171, GO:0043231, GO:0034451, GO:0032154, GO:0032154, GO:0030496, GO:0030496, GO:0030139, GO:0005829, GO:0005813, GO:0005768, GO:0005654, recycling endosome membrane, recycling endosome, intercellular bridge, intracellular membrane-bounded organelle, centriolar satellite, cleavage furrow, cleavage furrow, midbody, midbody, endocytic vesicle, cytosol, centrosome, endosome, nucleoplasm, GO:0051959, GO:0042803, GO:0031267, GO:0031267, GO:0031267, GO:0005515, GO:0005509, dynein light intermediate chain binding, protein homodimerization activity, small GTPase binding, small GTPase binding, small GTPase binding, protein binding, calcium ion binding, GO:0070164, GO:0061512, GO:0051301, GO:0032465, GO:0032465, GO:0032456, GO:0032456, GO:0016192, GO:0007049, negative regulation of adiponectin secretion, protein localization to cilium, cell division, regulation of cytokinesis, regulation of cytokinesis, endocytic recycling, endocytic recycling, vesicle-mediated transport, cell cycle, 12 2 11 4 2 6 3 0 0 ENSG00000090581 chr16 1351923 1364113 + GNPTG protein_coding This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]. 84572 GO:0070062, GO:0005794, GO:0005794, GO:0000139, extracellular exosome, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0042803, GO:0003976, protein homodimerization activity, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity, GO:0046835, carbohydrate phosphorylation, 441 539 506 717 821 707 777 610 520 ENSG00000090612 chr12 133181409 133214831 + ZNF268 protein_coding 10795 GO:0015629, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005634, actin cytoskeleton, cytosol, cytoplasm, nucleus, nucleus, nucleus, GO:0046872, GO:0003700, GO:0003677, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071157, GO:0045944, GO:0045597, GO:0043066, GO:0043065, GO:0030335, GO:0030154, GO:0008285, GO:0008284, GO:0007346, GO:0006357, GO:0006355, GO:0000122, negative regulation of cell cycle arrest, positive regulation of transcription by RNA polymerase II, positive regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of cell migration, cell differentiation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, regulation of mitotic cell cycle, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 42 41 60 35 50 45 54 42 48 ENSG00000090615 chr12 132768909 132828858 - GOLGA3 protein_coding The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]. 2802 GO:0090498, GO:0032580, GO:0017119, GO:0017119, GO:0016020, GO:0005829, GO:0005794, GO:0005794, GO:0005730, GO:0005654, GO:0005654, GO:0000139, extrinsic component of Golgi membrane, Golgi cisterna membrane, Golgi transport complex, Golgi transport complex, membrane, cytosol, Golgi apparatus, Golgi apparatus, nucleolus, nucleoplasm, nucleoplasm, Golgi membrane, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0007283, GO:0006891, spermatogenesis, intra-Golgi vesicle-mediated transport, 427 490 524 367 415 452 410 368 344 ENSG00000090621 chr1 39560816 39576790 - PABPC4 protein_coding Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 8761 GO:1990904, GO:1990904, GO:0010494, GO:0010494, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, cytoplasmic stress granule, cytoplasmic stress granule, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0017130, GO:0008266, GO:0008266, GO:0008143, GO:0008143, GO:0005515, GO:0003730, GO:0003723, GO:0003723, poly(C) RNA binding, poly(U) RNA binding, poly(U) RNA binding, poly(A) binding, poly(A) binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA binding, GO:0061515, GO:0043488, GO:0007596, GO:0006412, GO:0006401, GO:0006396, myeloid cell development, regulation of mRNA stability, blood coagulation, translation, RNA catabolic process, RNA processing, 142 154 271 520 268 504 310 217 385 ENSG00000090659 chr19 7739994 7747564 - CD209 protein_coding This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including leprosy and tuberculosis mycobacteria, the Ebola, hepatitis C, HIV-1 and Dengue viruses, and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CLEC4M (Gene ID: 10332), also known as L-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression on the surface of dendritic cells. Polymorphisms in the neck region are associated with protection from HIV-1 infection, while single nucleotide polymorphisms in the promoter of this gene are associated with differing resistance and susceptibility to and severity of infectious disease, including rs4804803, which is associated with SARS severity. [provided by RefSeq, May 2020]. 30835 GO:0043657, GO:0016021, GO:0016020, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005737, GO:0005576, host cell, integral component of membrane, membrane, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, cytoplasm, extracellular region, GO:0046872, GO:0046790, GO:0042605, GO:0030246, GO:0005537, GO:0005515, GO:0001618, metal ion binding, virion binding, peptide antigen binding, carbohydrate binding, mannose binding, protein binding, virus receptor activity, GO:0097323, GO:0075733, GO:0046968, GO:0046718, GO:0045087, GO:0042129, GO:0042102, GO:0035556, GO:0019882, GO:0019079, GO:0019062, GO:0019048, GO:0009988, GO:0007159, GO:0007157, GO:0006897, GO:0002250, GO:0002223, B cell adhesion, intracellular transport of virus, peptide antigen transport, viral entry into host cell, innate immune response, regulation of T cell proliferation, positive regulation of T cell proliferation, intracellular signal transduction, antigen processing and presentation, viral genome replication, virion attachment to host cell, modulation by virus of host process, cell-cell recognition, leukocyte cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, endocytosis, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, 0 1 0 2 0 0 0 1 0 ENSG00000090661 chr19 8206736 8262421 + CERS4 protein_coding 79603 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0050291, GO:0050291, GO:0016410, GO:0005515, GO:0003677, sphingosine N-acyltransferase activity, sphingosine N-acyltransferase activity, N-acyltransferase activity, protein binding, DNA binding, GO:0046513, GO:0046513, GO:0030148, ceramide biosynthetic process, ceramide biosynthetic process, sphingolipid biosynthetic process, 101 69 120 73 65 84 55 82 96 ENSG00000090674 chr19 7522626 7534009 + MCOLN1 protein_coding This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]. 57192 GO:0043235, GO:0043231, GO:0042995, GO:0031902, GO:0030670, GO:0016021, GO:0016021, GO:0016020, GO:0010008, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005770, GO:0005765, GO:0005765, GO:0005764, GO:0005654, GO:0001891, receptor complex, intracellular membrane-bounded organelle, cell projection, late endosome membrane, phagocytic vesicle membrane, integral component of membrane, integral component of membrane, membrane, endosome membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, late endosome, lysosomal membrane, lysosomal membrane, lysosome, nucleoplasm, phagocytic cup, GO:0099604, GO:0097682, GO:0072345, GO:0008289, GO:0005515, GO:0005381, GO:0005261, ligand-gated calcium channel activity, intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity, NAADP-sensitive calcium-release channel activity, lipid binding, protein binding, iron ion transmembrane transporter activity, cation channel activity, GO:0097352, GO:0090382, GO:0071467, GO:0071277, GO:0070588, GO:0070588, GO:0051289, GO:0051209, GO:0034755, GO:0033572, GO:0019722, GO:0006812, GO:0002250, autophagosome maturation, phagosome maturation, cellular response to pH, cellular response to calcium ion, calcium ion transmembrane transport, calcium ion transmembrane transport, protein homotetramerization, release of sequestered calcium ion into cytosol, iron ion transmembrane transport, transferrin transport, calcium-mediated signaling, cation transport, adaptive immune response, 816 901 1281 1414 1523 1630 1206 837 1142 ENSG00000090686 chr1 21678298 21783606 - USP48 protein_coding This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 84196 GO:0005829, GO:0005829, GO:0005739, GO:0005654, GO:0005654, GO:0005634, cytosol, cytosol, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0016579, GO:0016579, GO:0006511, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, 612 792 948 609 872 902 698 642 769 ENSG00000090776 chrX 68828997 68842147 + EFNB1 protein_coding The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]. 1947 GO:0070062, GO:0045202, GO:0045121, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005634, extracellular exosome, synapse, membrane raft, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0046875, GO:0005515, ephrin receptor binding, protein binding, GO:0048013, GO:0048013, GO:0042102, GO:0031295, GO:0009880, GO:0007411, GO:0007267, GO:0007155, GO:0001755, ephrin receptor signaling pathway, ephrin receptor signaling pathway, positive regulation of T cell proliferation, T cell costimulation, embryonic pattern specification, axon guidance, cell-cell signaling, cell adhesion, neural crest cell migration, 14 17 17 22 19 7 6 15 0 ENSG00000090857 chr16 70113626 70162537 + PDPR protein_coding Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]. 55066 GO:0005759, GO:0005759, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrial matrix, mitochondrion, cytoplasm, GO:0016491, oxidoreductase activity, GO:0055114, GO:0010510, oxidation-reduction process, regulation of acetyl-CoA biosynthetic process from pyruvate, 257 566 331 592 894 664 504 557 347 ENSG00000090861 chr16 70252295 70289543 - AARS protein_coding The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]. 16 GO:0070062, GO:0016020, GO:0005829, GO:0005829, GO:0005739, GO:0005737, extracellular exosome, membrane, cytosol, cytosol, mitochondrion, cytoplasm, GO:0016597, GO:0008270, GO:0005524, GO:0004813, GO:0004813, GO:0004813, GO:0002196, GO:0002161, GO:0002161, GO:0000049, amino acid binding, zinc ion binding, ATP binding, alanine-tRNA ligase activity, alanine-tRNA ligase activity, alanine-tRNA ligase activity, Ser-tRNA(Ala) hydrolase activity, aminoacyl-tRNA editing activity, aminoacyl-tRNA editing activity, tRNA binding, GO:0106074, GO:0008033, GO:0006419, GO:0006419, GO:0006418, GO:0006400, GO:0006400, aminoacyl-tRNA metabolism involved in translational fidelity, tRNA processing, alanyl-tRNA aminoacylation, alanyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, tRNA modification, tRNA modification, 29 25 71 63 28 52 50 16 49 ENSG00000090863 chr16 74447427 74607144 - GLG1 protein_coding 2734 GO:0150051, GO:0070062, GO:0031012, GO:0016021, GO:0016020, GO:0005886, GO:0005856, GO:0005794, GO:0000139, postsynaptic Golgi apparatus, extracellular exosome, extracellular matrix, integral component of membrane, membrane, plasma membrane, cytoskeleton, Golgi apparatus, Golgi membrane, GO:0017134, GO:0005102, fibroblast growth factor binding, signaling receptor binding, GO:0060349, GO:0050900, GO:0032330, GO:0030512, GO:0010955, bone morphogenesis, leukocyte migration, regulation of chondrocyte differentiation, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of protein processing, 978 1079 1178 632 744 876 729 568 709 ENSG00000090889 chrX 70290090 70420832 + KIF4A protein_coding This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010]. 24137 GO:1904115, GO:0030496, GO:0016363, GO:0016020, GO:0005876, GO:0005829, GO:0005737, GO:0005694, GO:0005654, axon cytoplasm, midbody, nuclear matrix, membrane, spindle microtubule, cytosol, cytoplasm, chromosome, nucleoplasm, GO:0051536, GO:0046872, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003677, iron-sulfur cluster binding, metal ion binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, DNA binding, GO:0051256, GO:0019886, GO:0008089, GO:0007052, GO:0007018, GO:0006996, GO:0006890, GO:0000281, mitotic spindle midzone assembly, antigen processing and presentation of exogenous peptide antigen via MHC class II, anterograde axonal transport, mitotic spindle organization, microtubule-based movement, organelle organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, mitotic cytokinesis, 0 0 0 0 0 0 4 0 0 ENSG00000090905 chr16 24610209 24827632 + TNRC6A protein_coding This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]. 27327 GO:0043231, GO:0016442, GO:0005829, GO:0005794, GO:0005654, GO:0005654, GO:0005654, GO:0000932, GO:0000932, intracellular membrane-bounded organelle, RISC complex, cytosol, Golgi apparatus, nucleoplasm, nucleoplasm, nucleoplasm, P-body, P-body, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0060964, GO:0060213, GO:0045652, GO:0035278, GO:0035195, GO:0035195, GO:0035194, GO:0010629, GO:0010628, GO:0009267, GO:0007223, regulation of gene silencing by miRNA, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, regulation of megakaryocyte differentiation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, post-transcriptional gene silencing by RNA, negative regulation of gene expression, positive regulation of gene expression, cellular response to starvation, Wnt signaling pathway, calcium modulating pathway, 242 284 340 268 256 320 258 173 192 ENSG00000090924 chr19 39412585 39428415 + PLEKHG2 protein_coding The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]. 64857 GO:0005829, cytosol, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0043065, GO:0030833, GO:0007186, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, regulation of actin filament polymerization, G protein-coupled receptor signaling pathway, 200 211 474 571 432 1556 617 239 1127 ENSG00000090932 chr19 39498895 39508481 + DLL3 protein_coding This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 10683 GO:0016021, integral component of membrane, GO:0005509, GO:0005112, GO:0005112, calcium ion binding, Notch binding, Notch binding, GO:0050768, GO:0048339, GO:0007386, GO:0007219, GO:0001756, GO:0001501, negative regulation of neurogenesis, paraxial mesoderm development, compartment pattern specification, Notch signaling pathway, somitogenesis, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000090971 chr19 55485004 55487568 + NAT14 protein_coding 57106 GO:0016021, GO:0005634, integral component of membrane, nucleus, GO:0008080, GO:0003677, N-acetyltransferase activity, DNA binding, GO:0045893, GO:0006352, positive regulation of transcription, DNA-templated, DNA-templated transcription, initiation, 22 23 21 13 17 16 10 12 17 ENSG00000090975 chr12 122983480 123150015 - PITPNM2 protein_coding PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]. 57605 GO:0044297, GO:0016020, GO:0012505, GO:0005829, GO:0005737, cell body, membrane, endomembrane system, cytosol, cytoplasm, GO:0035091, GO:0031210, GO:0030971, GO:0008526, GO:0008526, GO:0008525, GO:0005509, phosphatidylinositol binding, phosphatidylcholine binding, receptor tyrosine kinase binding, phosphatidylinositol transfer activity, phosphatidylinositol transfer activity, phosphatidylcholine transporter activity, calcium ion binding, GO:0120009, GO:0048015, GO:0015914, GO:0006661, intermembrane lipid transfer, phosphatidylinositol-mediated signaling, phospholipid transport, phosphatidylinositol biosynthetic process, 14 22 30 42 14 78 52 17 47 ENSG00000090989 chr4 55853616 55905034 + EXOC1 protein_coding The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 55763 GO:0098592, GO:0090543, GO:0048471, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0000145, GO:0000145, cytoplasmic side of apical plasma membrane, Flemming body, perinuclear region of cytoplasm, membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, exocyst, exocyst, GO:0031267, GO:0005546, GO:0005515, small GTPase binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0051607, GO:0051601, GO:0050714, GO:0048015, GO:0016241, GO:0016032, GO:0015031, GO:0006893, GO:0006887, GO:0006887, defense response to virus, exocyst localization, positive regulation of protein secretion, phosphatidylinositol-mediated signaling, regulation of macroautophagy, viral process, protein transport, Golgi to plasma membrane transport, exocytosis, exocytosis, 600 674 813 527 733 744 642 644 688 ENSG00000091009 chr5 146203600 146289132 + RBM27 protein_coding 54439 GO:0016607, GO:0005737, GO:0005634, nuclear speck, cytoplasm, nucleus, GO:0046872, GO:0003729, GO:0003723, metal ion binding, mRNA binding, RNA binding, GO:0046833, GO:0006397, positive regulation of RNA export from nucleus, mRNA processing, 250 222 265 172 203 191 111 165 153 ENSG00000091010 chr5 146338839 146341722 + POU4F3 protein_coding This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]. 5459 GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051402, GO:0050885, GO:0048675, GO:0045944, GO:0042491, GO:0042472, GO:0031290, GO:0021562, GO:0007605, GO:0007601, GO:0006357, neuron apoptotic process, neuromuscular process controlling balance, axon extension, positive regulation of transcription by RNA polymerase II, inner ear auditory receptor cell differentiation, inner ear morphogenesis, retinal ganglion cell axon guidance, vestibulocochlear nerve development, sensory perception of sound, visual perception, regulation of transcription by RNA polymerase II, 1 0 0 0 2 0 0 0 0 ENSG00000091039 chr12 76351797 76559809 - OSBPL8 protein_coding This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 114882 GO:0043231, GO:0031965, GO:0016021, GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005789, intracellular membrane-bounded organelle, nuclear membrane, integral component of membrane, membrane, membrane, cytosol, cytosol, endoplasmic reticulum membrane, GO:0140343, GO:0070273, GO:0032934, GO:0015485, GO:0015485, GO:0015248, GO:0005548, GO:0005515, GO:0001786, phosphatidylserine transfer activity, phosphatidylinositol-4-phosphate binding, sterol binding, cholesterol binding, cholesterol binding, sterol transporter activity, phospholipid transporter activity, protein binding, phosphatidylserine binding, GO:0120009, GO:0090204, GO:0051897, GO:0046628, GO:0046326, GO:0045444, GO:0036150, GO:0032148, GO:0030336, GO:0015918, GO:0015914, GO:0015914, GO:0010891, intermembrane lipid transfer, protein localization to nuclear pore, positive regulation of protein kinase B signaling, positive regulation of insulin receptor signaling pathway, positive regulation of glucose import, fat cell differentiation, phosphatidylserine acyl-chain remodeling, activation of protein kinase B activity, negative regulation of cell migration, sterol transport, phospholipid transport, phospholipid transport, negative regulation of sequestering of triglyceride, 6481 6311 7734 2207 3757 3531 2869 3279 3264 ENSG00000091073 chr7 76461676 76505995 + DTX2 protein_coding DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]. 113878 GO:0031965, GO:0005737, GO:0005654, GO:0005654, nuclear membrane, cytoplasm, nucleoplasm, nucleoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0016567, GO:0016567, GO:0007219, protein ubiquitination, protein ubiquitination, Notch signaling pathway, 184 193 274 90 123 107 117 107 122 ENSG00000091106 chr2 32224453 32265854 - NLRC4 protein_coding This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 58484 GO:0072557, GO:0005829, GO:0005829, IPAF inflammasome complex, cytosol, cytosol, GO:0089720, GO:0061133, GO:0042803, GO:0042802, GO:0005524, GO:0005515, GO:0000287, caspase binding, endopeptidase activator activity, protein homodimerization activity, identical protein binding, ATP binding, protein binding, magnesium ion binding, GO:0097202, GO:0097202, GO:0070269, GO:0051260, GO:0051092, GO:0045087, GO:0043065, GO:0042981, GO:0042742, GO:0042742, GO:0032731, GO:0032611, GO:0016045, GO:0016045, GO:0010954, GO:0006954, GO:0006919, GO:0006915, GO:0002218, activation of cysteine-type endopeptidase activity, activation of cysteine-type endopeptidase activity, pyroptosis, protein homooligomerization, positive regulation of NF-kappaB transcription factor activity, innate immune response, positive regulation of apoptotic process, regulation of apoptotic process, defense response to bacterium, defense response to bacterium, positive regulation of interleukin-1 beta production, interleukin-1 beta production, detection of bacterium, detection of bacterium, positive regulation of protein processing, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, activation of innate immune response, 194 161 233 112 204 105 176 149 120 ENSG00000091127 chr7 105439661 105522267 - PUS7 protein_coding 54517 GO:0005634, GO:0005634, nucleus, nucleus, GO:0019899, GO:0009982, GO:0009982, GO:0009982, GO:0003723, enzyme binding, pseudouridine synthase activity, pseudouridine synthase activity, pseudouridine synthase activity, RNA binding, GO:2000380, GO:1990481, GO:1902036, GO:0031119, GO:0017148, GO:0001522, regulation of mesoderm development, mRNA pseudouridine synthesis, regulation of hematopoietic stem cell differentiation, tRNA pseudouridine synthesis, negative regulation of translation, pseudouridine synthesis, 19 6 11 28 21 6 8 6 4 ENSG00000091128 chr7 108023548 108130356 - LAMB4 protein_coding 22798 GO:0043256, laminin complex, GO:0005201, extracellular matrix structural constituent, GO:0070831, GO:0034446, GO:0016477, GO:0009888, GO:0009887, basement membrane assembly, substrate adhesion-dependent cell spreading, cell migration, tissue development, animal organ morphogenesis, 1 1 1 6 0 0 0 0 0 ENSG00000091129 chr7 108147623 108456717 - NRCAM protein_coding Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 4897 GO:0045202, GO:0043194, GO:0043005, GO:0009897, GO:0005887, GO:0005886, GO:0005576, synapse, axon initial segment, neuron projection, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0086080, GO:0030506, GO:0005515, protein binding involved in heterotypic cell-cell adhesion, ankyrin binding, protein binding, GO:0098609, GO:0045666, GO:0045162, GO:0034113, GO:0031290, GO:0030516, GO:0019227, GO:0008104, GO:0007417, GO:0007416, GO:0007413, GO:0007409, GO:0001764, GO:0001525, cell-cell adhesion, positive regulation of neuron differentiation, clustering of voltage-gated sodium channels, heterotypic cell-cell adhesion, retinal ganglion cell axon guidance, regulation of axon extension, neuronal action potential propagation, protein localization, central nervous system development, synapse assembly, axonal fasciculation, axonogenesis, neuron migration, angiogenesis, 1 4 6 10 3 9 8 6 3 ENSG00000091136 chr7 107923799 108003255 - LAMB1 protein_coding Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]. 3912 GO:0070062, GO:0062023, GO:0062023, GO:0048471, GO:0043259, GO:0043257, GO:0043257, GO:0043256, GO:0005788, GO:0005615, GO:0005607, GO:0005607, GO:0005606, GO:0005606, GO:0005606, GO:0005604, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, perinuclear region of cytoplasm, laminin-10 complex, laminin-8 complex, laminin-8 complex, laminin complex, endoplasmic reticulum lumen, extracellular space, laminin-2 complex, laminin-2 complex, laminin-1 complex, laminin-1 complex, laminin-1 complex, basement membrane, basement membrane, extracellular region, GO:0005515, GO:0005201, GO:0005201, GO:0005201, GO:0005201, GO:0005198, GO:0005178, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, extracellular matrix structural constituent, extracellular matrix structural constituent, structural molecule activity, integrin binding, GO:0070831, GO:0050679, GO:0044267, GO:0043687, GO:0042476, GO:0035987, GO:0034446, GO:0034446, GO:0031175, GO:0030335, GO:0030198, GO:0021812, GO:0016477, GO:0009888, GO:0009887, GO:0007155, basement membrane assembly, positive regulation of epithelial cell proliferation, cellular protein metabolic process, post-translational protein modification, odontogenesis, endodermal cell differentiation, substrate adhesion-dependent cell spreading, substrate adhesion-dependent cell spreading, neuron projection development, positive regulation of cell migration, extracellular matrix organization, neuronal-glial interaction involved in cerebral cortex radial glia guided migration, cell migration, tissue development, animal organ morphogenesis, cell adhesion, 48 34 39 38 71 62 58 61 38 ENSG00000091137 chr7 107660635 107717809 + SLC26A4 protein_coding Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]. 5172 GO:0070062, GO:0070062, GO:0031526, GO:0016324, GO:0016324, GO:0016021, GO:0005887, GO:0005886, extracellular exosome, extracellular exosome, brush border membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0019531, GO:0015301, GO:0015116, GO:0015111, GO:0015108, GO:0015106, GO:0008271, oxalate transmembrane transporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, iodide transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, GO:1902476, GO:1902358, GO:0032880, GO:0019532, GO:0015705, GO:0015701, GO:0015698, GO:0008272, GO:0007605, GO:0006885, GO:0006811, chloride transmembrane transport, sulfate transmembrane transport, regulation of protein localization, oxalate transport, iodide transport, bicarbonate transport, inorganic anion transport, sulfate transport, sensory perception of sound, regulation of pH, ion transport, 2 0 0 0 0 0 0 0 0 ENSG00000091138 chr7 107765467 107803225 - SLC26A3 protein_coding The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]. 1811 GO:0097225, GO:0031526, GO:0016324, GO:0016020, GO:0005887, GO:0005886, sperm midpiece, brush border membrane, apical plasma membrane, membrane, integral component of plasma membrane, plasma membrane, GO:0019531, GO:0015301, GO:0015116, GO:0015108, GO:0015108, GO:0015106, GO:0015106, GO:0008271, GO:0005515, GO:0005215, oxalate transmembrane transporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, protein binding, transporter activity, GO:1902476, GO:1902358, GO:0071320, GO:0060081, GO:0051454, GO:0048240, GO:0019532, GO:0015701, GO:0007588, GO:0006820, GO:0006811, chloride transmembrane transport, sulfate transmembrane transport, cellular response to cAMP, membrane hyperpolarization, intracellular pH elevation, sperm capacitation, oxalate transport, bicarbonate transport, excretion, anion transport, ion transport, 0 0 0 1 0 0 0 0 0 ENSG00000091140 chr7 107890970 107931730 + DLD protein_coding This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 1738 GO:0045254, GO:0045252, GO:0045252, GO:0043159, GO:0031514, GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005654, GO:0005634, pyruvate dehydrogenase complex, oxoglutarate dehydrogenase complex, oxoglutarate dehydrogenase complex, acrosomal matrix, motile cilium, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, nucleoplasm, nucleus, GO:0051287, GO:0050660, GO:0043544, GO:0034604, GO:0005515, GO:0004148, GO:0004148, NAD binding, flavin adenine dinucleotide binding, lipoamide binding, pyruvate dehydrogenase (NAD+) activity, protein binding, dihydrolipoyl dehydrogenase activity, dihydrolipoyl dehydrogenase activity, GO:0106077, GO:0061732, GO:0055114, GO:0051068, GO:0048240, GO:0045454, GO:0042391, GO:0009106, GO:0009083, GO:0007568, GO:0007369, GO:0006554, GO:0006508, GO:0006120, GO:0006103, GO:0006099, GO:0006090, histone succinylation, mitochondrial acetyl-CoA biosynthetic process from pyruvate, oxidation-reduction process, dihydrolipoamide metabolic process, sperm capacitation, cell redox homeostasis, regulation of membrane potential, lipoate metabolic process, branched-chain amino acid catabolic process, aging, gastrulation, lysine catabolic process, proteolysis, mitochondrial electron transport, NADH to ubiquinone, 2-oxoglutarate metabolic process, tricarboxylic acid cycle, pyruvate metabolic process, 475 359 493 239 209 253 164 209 160 ENSG00000091157 chr18 56651343 57036606 + WDR7 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 23335 GO:0008021, synaptic vesicle, GO:0002244, hematopoietic progenitor cell differentiation, 144 196 176 129 119 159 151 114 108 ENSG00000091164 chr18 56597208 56651600 - TXNL1 protein_coding 9352 GO:0005829, GO:0005737, GO:0005634, GO:0000502, cytosol, cytoplasm, nucleus, proteasome complex, GO:0015036, disulfide oxidoreductase activity, GO:0055114, oxidation-reduction process, 774 600 848 499 595 638 510 506 502 ENSG00000091181 chr3 3066326 3126613 - IL5RA protein_coding The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]. 3568 GO:0043235, GO:0016021, GO:0009897, GO:0005886, GO:0005615, receptor complex, integral component of membrane, external side of plasma membrane, plasma membrane, extracellular space, GO:0019955, GO:0005515, GO:0004914, GO:0004896, cytokine binding, protein binding, interleukin-5 receptor activity, cytokine receptor activity, GO:0070665, GO:0038043, GO:0032674, GO:0019221, GO:0019221, GO:0007165, GO:0002437, GO:0000165, positive regulation of leukocyte proliferation, interleukin-5-mediated signaling pathway, regulation of interleukin-5 production, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, signal transduction, inflammatory response to antigenic stimulus, MAPK cascade, 68 79 149 17 12 18 21 10 1 ENSG00000091262 chr16 16148928 16223522 - ABCC6 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]. 368 GO:0016328, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005789, GO:0005654, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, nucleoplasm, GO:0042626, GO:0016887, GO:0005524, GO:0005215, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, transporter activity, GO:0055085, GO:0055085, GO:0042493, GO:0007601, transmembrane transport, transmembrane transport, response to drug, visual perception, 2 3 7 1 9 4 2 9 0 ENSG00000091317 chr3 32481312 32503408 - CMTM6 protein_coding This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]. 54918 GO:0055038, GO:0043231, GO:0035579, GO:0035577, GO:0031901, GO:0016021, GO:0016020, GO:0005886, GO:0005886, recycling endosome membrane, intracellular membrane-bounded organelle, specific granule membrane, azurophil granule membrane, early endosome membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0043312, GO:0032456, GO:0031647, GO:0015031, neutrophil degranulation, endocytic recycling, regulation of protein stability, protein transport, 8836 9247 12989 1810 4046 3352 2518 4036 3611 ENSG00000091409 chr2 172427354 172506282 + ITGA6 protein_coding The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 3655 GO:0034676, GO:0030175, GO:0030056, GO:0009986, GO:0009986, GO:0009925, GO:0009897, GO:0005925, GO:0005912, GO:0005886, GO:0005886, GO:0005604, integrin alpha6-beta4 complex, filopodium, hemidesmosome, cell surface, cell surface, basal plasma membrane, external side of plasma membrane, focal adhesion, adherens junction, plasma membrane, plasma membrane, basement membrane, GO:0046872, GO:0045296, GO:0044877, GO:0043236, GO:0038132, GO:0031994, GO:0005515, metal ion binding, cadherin binding, protein-containing complex binding, laminin binding, neuregulin binding, insulin-like growth factor I binding, protein binding, GO:2001237, GO:0098609, GO:0071407, GO:0050900, GO:0050873, GO:0046847, GO:0045944, GO:0043589, GO:0043547, GO:0043065, GO:0042475, GO:0042327, GO:0035878, GO:0031668, GO:0031589, GO:0031581, GO:0030335, GO:0030198, GO:0022409, GO:0010976, GO:0010811, GO:0010668, GO:0007229, GO:0007160, GO:0007044, negative regulation of extrinsic apoptotic signaling pathway, cell-cell adhesion, cellular response to organic cyclic compound, leukocyte migration, brown fat cell differentiation, filopodium assembly, positive regulation of transcription by RNA polymerase II, skin morphogenesis, positive regulation of GTPase activity, positive regulation of apoptotic process, odontogenesis of dentin-containing tooth, positive regulation of phosphorylation, nail development, cellular response to extracellular stimulus, cell-substrate adhesion, hemidesmosome assembly, positive regulation of cell migration, extracellular matrix organization, positive regulation of cell-cell adhesion, positive regulation of neuron projection development, positive regulation of cell-substrate adhesion, ectodermal cell differentiation, integrin-mediated signaling pathway, cell-matrix adhesion, cell-substrate junction assembly, 112 99 200 267 83 312 212 71 222 ENSG00000091428 chr2 172735274 173052893 + RAPGEF4 protein_coding 11069 GO:0098686, GO:0016020, GO:0005886, GO:0005829, hippocampal mossy fiber to CA3 synapse, membrane, plasma membrane, cytosol, GO:0031267, GO:0030552, GO:0005515, GO:0005085, GO:0005085, small GTPase binding, cAMP binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0098693, GO:0050796, GO:0030073, GO:0019933, GO:0017157, GO:0017156, GO:0007264, GO:0007186, regulation of synaptic vesicle cycle, regulation of insulin secretion, insulin secretion, cAMP-mediated signaling, regulation of exocytosis, calcium-ion regulated exocytosis, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000091436 chr2 173075435 173268010 + MAP3K20 protein_coding This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 51776 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0004709, GO:0004674, GO:0003723, GO:0000287, ATP binding, protein binding, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, RNA binding, magnesium ion binding, GO:0071480, GO:0060173, GO:0051403, GO:0043065, GO:0042733, GO:0030154, GO:0008219, GO:0007257, GO:0007093, GO:0007050, GO:0007010, GO:0006468, GO:0000186, GO:0000077, cellular response to gamma radiation, limb development, stress-activated MAPK cascade, positive regulation of apoptotic process, embryonic digit morphogenesis, cell differentiation, cell death, activation of JUN kinase activity, mitotic cell cycle checkpoint, cell cycle arrest, cytoskeleton organization, protein phosphorylation, activation of MAPKK activity, DNA damage checkpoint, 128 54 56 115 48 35 74 35 46 ENSG00000091482 chrX 21705972 21758163 - SMPX protein_coding This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]. 23676 GO:0043034, GO:0031430, GO:0005927, GO:0005634, costamere, M band, muscle tendon junction, nucleus, GO:0006941, striated muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000091483 chr1 241497603 241519761 - FH protein_coding The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]. 2271 GO:0070062, GO:0045239, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005737, GO:0005694, GO:0005634, extracellular exosome, tricarboxylic acid cycle enzyme complex, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, cytoplasm, chromosome, nucleus, GO:0005515, GO:0004333, GO:0004333, GO:0004333, protein binding, fumarate hydratase activity, fumarate hydratase activity, fumarate hydratase activity, GO:0120162, GO:0048873, GO:0006281, GO:0006108, GO:0006108, GO:0006106, GO:0006106, GO:0006099, GO:0006099, GO:0006099, positive regulation of cold-induced thermogenesis, homeostasis of number of cells within a tissue, DNA repair, malate metabolic process, malate metabolic process, fumarate metabolic process, fumarate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, 12 13 13 78 16 64 28 19 40 ENSG00000091490 chr4 25747427 25863760 - SEL1L3 protein_coding 23231 GO:0016021, GO:0005654, integral component of membrane, nucleoplasm, 78 80 145 164 105 262 167 84 152 ENSG00000091513 chr3 133745956 133796640 + TF protein_coding This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]. 7018 GO:1990712, GO:0072562, GO:0070062, GO:0055037, GO:0055037, GO:0048471, GO:0045178, GO:0034774, GO:0031982, GO:0031410, GO:0031232, GO:0030665, GO:0030139, GO:0016324, GO:0010008, GO:0009986, GO:0009925, GO:0005905, GO:0005886, GO:0005788, GO:0005770, GO:0005769, GO:0005769, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, HFE-transferrin receptor complex, blood microparticle, extracellular exosome, recycling endosome, recycling endosome, perinuclear region of cytoplasm, basal part of cell, secretory granule lumen, vesicle, cytoplasmic vesicle, extrinsic component of external side of plasma membrane, clathrin-coated vesicle membrane, endocytic vesicle, apical plasma membrane, endosome membrane, cell surface, basal plasma membrane, clathrin-coated pit, plasma membrane, endoplasmic reticulum lumen, late endosome, early endosome, early endosome, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:1990459, GO:1990459, GO:0034986, GO:0008199, GO:0008198, GO:0005515, transferrin receptor binding, transferrin receptor binding, iron chaperone activity, ferric iron binding, ferrous iron binding, protein binding, GO:2000147, GO:0071281, GO:0070371, GO:0061024, GO:0060395, GO:0055072, GO:0048260, GO:0048260, GO:0045893, GO:0045780, GO:0044267, GO:0043687, GO:0034756, GO:0033572, GO:0031647, GO:0030316, GO:0019731, GO:0007257, GO:0007015, GO:0006879, GO:0006826, GO:0002576, GO:0001895, positive regulation of cell motility, cellular response to iron ion, ERK1 and ERK2 cascade, membrane organization, SMAD protein signal transduction, iron ion homeostasis, positive regulation of receptor-mediated endocytosis, positive regulation of receptor-mediated endocytosis, positive regulation of transcription, DNA-templated, positive regulation of bone resorption, cellular protein metabolic process, post-translational protein modification, regulation of iron ion transport, transferrin transport, regulation of protein stability, osteoclast differentiation, antibacterial humoral response, activation of JUN kinase activity, actin filament organization, cellular iron ion homeostasis, iron ion transport, platelet degranulation, retina homeostasis, 0 0 1 2 3 1 3 1 0 ENSG00000091527 chr3 133573730 133590261 + CDV3 protein_coding 55573 GO:0005886, GO:0005829, GO:0005737, plasma membrane, cytosol, cytoplasm, GO:0003674, molecular_function, GO:0008150, biological_process, 2503 2102 2360 896 999 1140 963 984 931 ENSG00000091536 chr17 18108706 18179806 + MYO15A protein_coding This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]. 51168 GO:0098858, GO:0070062, GO:0032420, GO:0031982, GO:0016459, GO:0015629, GO:0005737, actin-based cell projection, extracellular exosome, stereocilium, vesicle, myosin complex, actin cytoskeleton, cytoplasm, GO:0051015, GO:0030898, GO:0005524, GO:0005516, GO:0000146, actin filament binding, actin-dependent ATPase activity, ATP binding, calmodulin binding, microfilament motor activity, GO:0042472, GO:0030050, GO:0007626, GO:0007605, GO:0007015, inner ear morphogenesis, vesicle transport along actin filament, locomotory behavior, sensory perception of sound, actin filament organization, 2 12 6 8 3 8 18 6 6 ENSG00000091542 chr17 18183078 18209954 + ALKBH5 protein_coding 54890 GO:0016607, GO:0005829, GO:0005794, GO:0005654, GO:0005654, GO:0005634, GO:0005634, nuclear speck, cytosol, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990931, GO:0046872, GO:0035515, GO:0016706, GO:0003723, RNA N6-methyladenosine dioxygenase activity, metal ion binding, oxidative RNA demethylase activity, 2-oxoglutarate-dependent dioxygenase activity, RNA binding, GO:0043488, GO:0035553, GO:0035553, GO:0030154, GO:0007283, GO:0006406, GO:0006406, GO:0006397, GO:0006397, GO:0006307, GO:0001666, regulation of mRNA stability, oxidative single-stranded RNA demethylation, oxidative single-stranded RNA demethylation, cell differentiation, spermatogenesis, mRNA export from nucleus, mRNA export from nucleus, mRNA processing, mRNA processing, DNA dealkylation involved in DNA repair, response to hypoxia, 698 770 848 373 573 589 493 625 364 ENSG00000091583 chr17 66212033 66256525 - APOH protein_coding Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]. 350 GO:0070062, GO:0062023, GO:0062023, GO:0042627, GO:0034364, GO:0034361, GO:0031089, GO:0009986, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, chylomicron, high-density lipoprotein particle, very-low-density lipoprotein particle, platelet dense granule lumen, cell surface, extracellular space, extracellular space, extracellular region, extracellular region, GO:0060230, GO:0042802, GO:0008289, GO:0008201, GO:0005543, GO:0005515, lipoprotein lipase activator activity, identical protein binding, lipid binding, heparin binding, phospholipid binding, protein binding, GO:0051918, GO:0051917, GO:0051006, GO:0034392, GO:0034197, GO:0033033, GO:0031639, GO:0030195, GO:0030194, GO:0016525, GO:0010596, GO:0007597, GO:0006641, GO:0002576, GO:0001937, negative regulation of fibrinolysis, regulation of fibrinolysis, positive regulation of lipoprotein lipase activity, negative regulation of smooth muscle cell apoptotic process, triglyceride transport, negative regulation of myeloid cell apoptotic process, plasminogen activation, negative regulation of blood coagulation, positive regulation of blood coagulation, negative regulation of angiogenesis, negative regulation of endothelial cell migration, blood coagulation, intrinsic pathway, triglyceride metabolic process, platelet degranulation, negative regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000091592 chr17 5499427 5619424 - NLRP1 protein_coding This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. 22861 GO:0072558, GO:0072558, GO:0061702, GO:0005829, GO:0005829, GO:0005654, GO:0005634, NLRP1 inflammasome complex, NLRP1 inflammasome complex, inflammasome complex, cytosol, cytosol, nucleoplasm, nucleus, GO:0019904, GO:0019899, GO:0008656, GO:0005524, GO:0005515, protein domain specific binding, enzyme binding, cysteine-type endopeptidase activator activity involved in apoptotic process, ATP binding, protein binding, GO:1904784, GO:0051402, GO:0050727, GO:0045087, GO:0042742, GO:0032731, GO:0032495, GO:0016032, GO:0006954, GO:0006919, GO:0006919, GO:0006919, GO:0006915, NLRP1 inflammasome complex assembly, neuron apoptotic process, regulation of inflammatory response, innate immune response, defense response to bacterium, positive regulation of interleukin-1 beta production, response to muramyl dipeptide, viral process, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 6315 5155 7676 4975 5008 6604 5838 3746 5776 ENSG00000091622 chr17 6451264 6556494 - PITPNM3 protein_coding This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 83394 GO:0044297, GO:0042995, GO:0030134, GO:0016020, GO:0012505, GO:0005829, GO:0005737, cell body, cell projection, COPII-coated ER to Golgi transport vesicle, membrane, endomembrane system, cytosol, cytoplasm, GO:0030971, GO:0008289, GO:0005515, GO:0005509, GO:0004620, receptor tyrosine kinase binding, lipid binding, protein binding, calcium ion binding, phospholipase activity, GO:0006661, phosphatidylinositol biosynthetic process, 5 14 12 12 4 4 13 6 8 ENSG00000091640 chr17 4959226 4967872 - SPAG7 protein_coding 9552 GO:0005634, nucleus, GO:0005515, GO:0003676, protein binding, nucleic acid binding, 86 114 160 121 146 223 118 127 108 ENSG00000091651 chr16 46689643 46698394 + ORC6 protein_coding The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]. 23594 GO:0016020, GO:0005664, GO:0005654, GO:0005654, GO:0001650, GO:0000808, membrane, nuclear origin of replication recognition complex, nucleoplasm, nucleoplasm, fibrillar center, origin recognition complex, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0051782, GO:0006270, GO:0006260, GO:0000082, negative regulation of cell division, DNA replication initiation, DNA replication, G1/S transition of mitotic cell cycle, 8 8 26 22 6 5 10 4 6 ENSG00000091656 chr8 76681219 76867285 + ZFHX4 protein_coding 79776 GO:0005634, GO:0000785, nucleus, chromatin, GO:0008270, GO:0000981, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000091664 chr11 22338097 22379503 + SLC17A6 protein_coding 57084 GO:0060076, GO:0043005, GO:0030672, GO:0030285, GO:0016021, excitatory synapse, neuron projection, synaptic vesicle membrane, integral component of synaptic vesicle membrane, integral component of membrane, GO:0022857, GO:0015293, GO:0005326, GO:0005313, transmembrane transporter activity, symporter activity, neurotransmitter transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:1990384, GO:0098700, GO:0098700, GO:0050803, GO:0035249, GO:0015813, GO:0006820, GO:0006814, GO:0006811, hyaloid vascular plexus regression, neurotransmitter loading into synaptic vesicle, neurotransmitter loading into synaptic vesicle, regulation of synapse structure or activity, synaptic transmission, glutamatergic, L-glutamate transmembrane transport, anion transport, sodium ion transport, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000091704 chr7 130380339 130388114 + CPA1 protein_coding This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]. 1357 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0008270, GO:0005515, GO:0004181, zinc ion binding, protein binding, metallocarboxypeptidase activity, GO:0006691, GO:0006508, leukotriene metabolic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000091732 chr7 130018286 130051451 - ZC3HC1 protein_coding This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]. 51530 GO:0031965, GO:0005654, GO:0005634, GO:0005634, nuclear membrane, nucleoplasm, nucleus, nucleus, GO:0019901, GO:0008270, GO:0005515, protein kinase binding, zinc ion binding, protein binding, GO:2001240, GO:0051301, GO:0016567, GO:0007049, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, cell division, protein ubiquitination, cell cycle, 7 7 22 25 6 27 19 7 20 ENSG00000091831 chr6 151656691 152129619 + ESR1 protein_coding This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]. 2099 GO:0097550, GO:0035327, GO:0032991, GO:0032991, GO:0016021, GO:0016020, GO:0005886, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, transcription preinitiation complex, transcriptionally active chromatin, protein-containing complex, protein-containing complex, integral component of membrane, membrane, plasma membrane, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0051117, GO:0042802, GO:0034056, GO:0030331, GO:0030284, GO:0030284, GO:0030284, GO:0030235, GO:0019901, GO:0019899, GO:0017025, GO:0008270, GO:0008134, GO:0008013, GO:0005515, GO:0005496, GO:0004879, GO:0004879, GO:0004879, GO:0003700, GO:0003682, GO:0001228, GO:0001226, GO:0001223, GO:0001093, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, ATPase binding, identical protein binding, estrogen response element binding, estrogen receptor binding, estrogen receptor activity, estrogen receptor activity, estrogen receptor activity, nitric-oxide synthase regulator activity, protein kinase binding, enzyme binding, TBP-class protein binding, zinc ion binding, transcription factor binding, beta-catenin binding, protein binding, steroid binding, nuclear receptor activity, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription corepressor binding, transcription coactivator binding, TFIIB-class transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903799, GO:0071392, GO:0071392, GO:0071391, GO:0071168, GO:0060750, GO:0060749, GO:0060745, GO:0060687, GO:0060527, GO:0060523, GO:0060068, GO:0060065, GO:0051897, GO:0051091, GO:0050727, GO:0048863, GO:0048146, GO:0045944, GO:0045899, GO:0045893, GO:0043627, GO:0043433, GO:0043124, GO:0042981, GO:0034121, GO:0033146, GO:0032355, GO:0030520, GO:0030520, GO:0030518, GO:0030518, GO:0030111, GO:0016579, GO:0010863, GO:0010629, GO:0008584, GO:0008209, GO:0007204, GO:0007200, GO:0007165, GO:0006367, GO:0006357, GO:0006357, GO:0006355, GO:0006338, GO:0002064, GO:0001547, GO:0000122, negative regulation of production of miRNAs involved in gene silencing by miRNA, cellular response to estradiol stimulus, cellular response to estradiol stimulus, cellular response to estrogen stimulus, protein localization to chromatin, epithelial cell proliferation involved in mammary gland duct elongation, mammary gland alveolus development, mammary gland branching involved in pregnancy, regulation of branching involved in prostate gland morphogenesis, prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis, prostate epithelial cord elongation, vagina development, uterus development, positive regulation of protein kinase B signaling, positive regulation of DNA-binding transcription factor activity, regulation of inflammatory response, stem cell differentiation, positive regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of RNA polymerase II transcription preinitiation complex assembly, positive regulation of transcription, DNA-templated, response to estrogen, negative regulation of DNA-binding transcription factor activity, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, regulation of toll-like receptor signaling pathway, regulation of intracellular estrogen receptor signaling pathway, response to estradiol, intracellular estrogen receptor signaling pathway, intracellular estrogen receptor signaling pathway, intracellular steroid hormone receptor signaling pathway, intracellular steroid hormone receptor signaling pathway, regulation of Wnt signaling pathway, protein deubiquitination, positive regulation of phospholipase C activity, negative regulation of gene expression, male gonad development, androgen metabolic process, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin remodeling, epithelial cell development, antral ovarian follicle growth, negative regulation of transcription by RNA polymerase II, 10 11 19 17 3 44 13 10 9 ENSG00000091844 chr6 153004459 153131249 - RGS17 protein_coding This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]. 26575 GO:0045202, GO:0043005, GO:0005886, GO:0005737, GO:0005634, synapse, neuron projection, plasma membrane, cytoplasm, nucleus, GO:0005515, GO:0005096, GO:0003924, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0009968, GO:0007186, GO:0001975, positive regulation of GTPase activity, negative regulation of signal transduction, G protein-coupled receptor signaling pathway, response to amphetamine, 15 14 22 5 2 5 2 0 5 ENSG00000091879 chr8 6499651 6563409 - ANGPT2 protein_coding This gene belongs to the angiopoietin family of growth factors. The protein encoded by this gene is an antagonist of angiopoietin 1, and both angiopoietin 1 and angiopoietin 2 are ligands for the endothelial TEK receptor tyrosine kinase. Angiopoietin 2 is upregulated in multiple inflammatory diseases and is implicated in the direct control of inflammation-related signaling pathways. The encoded protein affects angiogenesis during embryogenesis and tumorigenesis, disrupts the vascular remodeling ability of angiopoietin 1, and may induce endothelial cell apoptosis. This gene serves a prognostic biomarker for acute respiratory distress syndrome. [provided by RefSeq, Aug 2020]. 285 GO:0062023, GO:0042995, GO:0005886, GO:0005634, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, cell projection, plasma membrane, nucleus, extracellular space, extracellular space, extracellular region, GO:0046872, GO:0030971, GO:0030971, GO:0005515, GO:0005102, metal ion binding, receptor tyrosine kinase binding, receptor tyrosine kinase binding, protein binding, signaling receptor binding, GO:0072012, GO:0071363, GO:0050928, GO:0050900, GO:0048014, GO:0048014, GO:0045766, GO:0043537, GO:0031100, GO:0016525, GO:0014823, GO:0014070, GO:0010812, GO:0010467, GO:0009749, GO:0009612, GO:0009314, GO:0007281, GO:0007165, GO:0001666, GO:0001525, glomerulus vasculature development, cellular response to growth factor stimulus, negative regulation of positive chemotaxis, leukocyte migration, Tie signaling pathway, Tie signaling pathway, positive regulation of angiogenesis, negative regulation of blood vessel endothelial cell migration, animal organ regeneration, negative regulation of angiogenesis, response to activity, response to organic cyclic compound, negative regulation of cell-substrate adhesion, gene expression, response to glucose, response to mechanical stimulus, response to radiation, germ cell development, signal transduction, response to hypoxia, angiogenesis, 4 3 6 1 4 7 11 7 5 ENSG00000091947 chr17 44011188 44023946 - TMEM101 protein_coding 84336 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, protein binding, GO:0043123, positive regulation of I-kappaB kinase/NF-kappaB signaling, 30 33 28 32 30 39 37 21 19 ENSG00000091972 chr3 112332347 112362812 + CD200 protein_coding This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 4345 GO:0044297, GO:0043025, GO:0043025, GO:0043005, GO:0030424, GO:0016020, GO:0009986, GO:0009986, GO:0009986, GO:0005887, GO:0005886, cell body, neuronal cell body, neuronal cell body, neuron projection, axon, membrane, cell surface, cell surface, cell surface, integral component of plasma membrane, plasma membrane, GO:0140081, GO:0086080, GO:0005515, glycosylated region protein binding, protein binding involved in heterotypic cell-cell adhesion, protein binding, GO:2000405, GO:1905522, GO:1904465, GO:1901215, GO:0150079, GO:0150077, GO:0150074, GO:0150072, GO:0098609, GO:0071636, GO:0050776, GO:0043031, GO:0034113, GO:0034113, GO:0032793, GO:0032715, GO:0032088, GO:0008285, GO:0002695, negative regulation of T cell migration, negative regulation of macrophage migration, negative regulation of matrix metallopeptidase secretion, negative regulation of neuron death, negative regulation of neuroinflammatory response, regulation of neuroinflammatory response, positive regulation of protein-glutamine gamma-glutamyltransferase activity, positive regulation of arginase activity, cell-cell adhesion, positive regulation of transforming growth factor beta production, regulation of immune response, negative regulation of macrophage activation, heterotypic cell-cell adhesion, heterotypic cell-cell adhesion, positive regulation of CREB transcription factor activity, negative regulation of interleukin-6 production, negative regulation of NF-kappaB transcription factor activity, negative regulation of cell population proliferation, negative regulation of leukocyte activation, 5 5 6 26 21 0 9 20 11 ENSG00000091986 chr3 112596794 112649530 - CCDC80 protein_coding 151887 GO:0005614, GO:0005604, interstitial matrix, basement membrane, GO:0008201, GO:0001968, heparin binding, fibronectin binding, GO:0030198, GO:0010811, GO:0009617, extracellular matrix organization, positive regulation of cell-substrate adhesion, response to bacterium, 7 8 5 13 29 52 7 25 32 ENSG00000092009 chr14 24505353 24508265 - CMA1 protein_coding This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015]. 1215 GO:0062023, GO:0062023, GO:0030141, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, secretory granule, extracellular space, extracellular region, extracellular region, GO:0042277, GO:0008236, GO:0004252, GO:0004252, peptide binding, serine-type peptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0140447, GO:0071333, GO:0050727, GO:0045766, GO:0034769, GO:0030901, GO:0022617, GO:0022617, GO:0002003, cytokine precursor processing, cellular response to glucose stimulus, regulation of inflammatory response, positive regulation of angiogenesis, basement membrane disassembly, midbrain development, extracellular matrix disassembly, extracellular matrix disassembly, angiotensin maturation, 0 0 0 0 0 0 0 0 0 ENSG00000092010 chr14 24136158 24138967 + PSME1 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 5720 GO:0070062, GO:0008537, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0000502, extracellular exosome, proteasome activator complex, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, proteasome complex, GO:0061133, GO:0005515, endopeptidase activator activity, protein binding, GO:2000045, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0061136, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010950, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of G1/S transition of mitotic cell cycle, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of proteasomal protein catabolic process, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, positive regulation of endopeptidase activity, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 2485 2266 2746 908 1286 1157 1112 1410 1038 ENSG00000092020 chr14 35085467 35122517 - PPP2R3C protein_coding This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 55012 GO:0005829, GO:0005819, GO:0005813, GO:0005813, GO:0005794, GO:0005654, cytosol, spindle, centrosome, centrosome, Golgi apparatus, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0051900, GO:0048536, GO:0045579, GO:0043029, GO:0035303, GO:0032147, GO:0030865, GO:0002759, GO:0001782, GO:0000226, regulation of mitochondrial depolarization, spleen development, positive regulation of B cell differentiation, T cell homeostasis, regulation of dephosphorylation, activation of protein kinase activity, cortical cytoskeleton organization, regulation of antimicrobial humoral response, B cell homeostasis, microtubule cytoskeleton organization, 447 282 510 401 412 479 400 358 330 ENSG00000092036 chr14 22946228 22957161 - HAUS4 protein_coding This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]. 54930 GO:0070652, GO:0070652, GO:0005874, GO:0005829, GO:0005819, GO:0005813, HAUS complex, HAUS complex, microtubule, cytosol, spindle, centrosome, GO:0051011, GO:0005515, GO:0003674, microtubule minus-end binding, protein binding, molecular_function, GO:0097711, GO:0051301, GO:0051225, GO:0051225, GO:0010389, GO:0007098, GO:0007098, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, spindle assembly, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, centrosome cycle, G2/M transition of mitotic cell cycle, 293 219 290 162 224 220 153 154 214 ENSG00000092051 chr14 23568035 23578800 - JPH4 protein_coding This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. 84502 GO:0043198, GO:0030314, GO:0016021, GO:0014701, GO:0005886, GO:0005790, GO:0005789, dendritic shaft, junctional membrane complex, integral component of membrane, junctional sarcoplasmic reticulum membrane, plasma membrane, smooth endoplasmic reticulum, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:2001256, GO:0060402, GO:0060314, GO:0050885, GO:0048167, GO:0007612, GO:0001817, regulation of store-operated calcium entry, calcium ion transport into cytosol, regulation of ryanodine-sensitive calcium-release channel activity, neuromuscular process controlling balance, regulation of synaptic plasticity, learning, regulation of cytokine production, 0 0 1 2 0 1 0 1 2 ENSG00000092054 chr14 23412738 23435718 - MYH7 protein_coding Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]. 4625 GO:0032982, GO:0030018, GO:0030017, GO:0030017, GO:0030016, GO:0016459, GO:0005859, GO:0001725, myosin filament, Z disc, sarcomere, sarcomere, myofibril, myosin complex, muscle myosin complex, stress fiber, GO:0051015, GO:0030898, GO:0016887, GO:0005524, GO:0005516, GO:0005515, GO:0000146, GO:0000146, actin filament binding, actin-dependent ATPase activity, ATPase activity, ATP binding, calmodulin binding, protein binding, microfilament motor activity, microfilament motor activity, GO:0060048, GO:0055010, GO:0046034, GO:0031449, GO:0030049, GO:0014898, GO:0014883, GO:0014728, GO:0007512, GO:0006941, GO:0006936, GO:0006936, GO:0003009, GO:0002027, GO:0002026, cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, ATP metabolic process, regulation of slow-twitch skeletal muscle fiber contraction, muscle filament sliding, cardiac muscle hypertrophy in response to stress, transition between fast and slow fiber, regulation of the force of skeletal muscle contraction, adult heart development, striated muscle contraction, muscle contraction, muscle contraction, skeletal muscle contraction, regulation of heart rate, regulation of the force of heart contraction, 0 0 0 0 0 0 0 0 0 ENSG00000092067 chr14 23117304 23119616 - CEBPE protein_coding The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. 1053 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0044877, GO:0042802, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein-containing complex binding, identical protein binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071222, GO:0045944, GO:0042742, GO:0030851, GO:0030225, GO:0030099, GO:0006952, GO:0006909, GO:0006357, GO:0001816, cellular response to lipopolysaccharide, positive regulation of transcription by RNA polymerase II, defense response to bacterium, granulocyte differentiation, macrophage differentiation, myeloid cell differentiation, defense response, phagocytosis, regulation of transcription by RNA polymerase II, cytokine production, 18 29 35 5 10 0 7 5 8 ENSG00000092068 chr14 23125295 23183674 - SLC7A8 protein_coding 23428 GO:0031528, GO:0016324, GO:0016323, GO:0009925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, microvillus membrane, apical plasma membrane, basolateral plasma membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042605, GO:0019534, GO:0015349, GO:0015349, GO:0015190, GO:0015190, GO:0015187, GO:0015180, GO:0015179, GO:0015175, GO:0015175, GO:0015175, GO:0015175, GO:0015171, GO:0015171, GO:0015171, GO:0015101, GO:0005515, peptide antigen binding, toxin transmembrane transporter activity, thyroid hormone transmembrane transporter activity, thyroid hormone transmembrane transporter activity, L-leucine transmembrane transporter activity, L-leucine transmembrane transporter activity, glycine transmembrane transporter activity, L-alanine transmembrane transporter activity, L-amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, organic cation transmembrane transporter activity, protein binding, GO:1904273, GO:1903801, GO:1903801, GO:1901998, GO:0150104, GO:0098713, GO:0098713, GO:0089718, GO:0070327, GO:0070327, GO:0055065, GO:0050900, GO:0035524, GO:0015829, GO:0015827, GO:0015820, GO:0015816, GO:0015804, GO:0015804, GO:0015695, GO:0009636, GO:0006865, GO:0006865, GO:0003333, L-alanine import across plasma membrane, L-leucine import across plasma membrane, L-leucine import across plasma membrane, toxin transport, transport across blood-brain barrier, leucine import across plasma membrane, leucine import across plasma membrane, amino acid import across plasma membrane, thyroid hormone transport, thyroid hormone transport, metal ion homeostasis, leukocyte migration, proline transmembrane transport, valine transport, tryptophan transport, leucine transport, glycine transport, neutral amino acid transport, neutral amino acid transport, organic cation transport, response to toxic substance, amino acid transport, amino acid transport, amino acid transmembrane transport, 0 11 1 0 4 4 0 3 0 ENSG00000092094 chr14 20446411 20455105 - OSGEP protein_coding 55644 GO:0016607, GO:0005886, GO:0005737, GO:0005654, GO:0005634, GO:0000408, GO:0000408, nuclear speck, plasma membrane, cytoplasm, nucleoplasm, nucleus, EKC/KEOPS complex, EKC/KEOPS complex, GO:0061711, GO:0046872, GO:0005515, N(6)-L-threonylcarbamoyladenine synthase activity, metal ion binding, protein binding, GO:0002949, tRNA threonylcarbamoyladenosine modification, 180 186 353 363 334 345 214 243 244 ENSG00000092096 chr14 23346306 23352912 - SLC22A17 protein_coding 51310 GO:0031301, GO:0005887, GO:0005886, GO:0005774, integral component of organelle membrane, integral component of plasma membrane, plasma membrane, vacuolar membrane, GO:0022857, GO:0005515, GO:0004888, transmembrane transporter activity, protein binding, transmembrane signaling receptor activity, GO:0055085, GO:0015891, GO:0006879, transmembrane transport, siderophore transport, cellular iron ion homeostasis, 2 1 1 14 1 22 6 2 9 ENSG00000092098 chr14 24146683 24160661 + RNF31 protein_coding The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. 55072 GO:0071797, GO:0035631, GO:0009898, GO:0005829, LUBAC complex, CD40 receptor complex, cytoplasmic side of plasma membrane, cytosol, GO:0046872, GO:0043130, GO:0042802, GO:0031625, GO:0005515, GO:0004842, metal ion binding, ubiquitin binding, identical protein binding, ubiquitin protein ligase binding, protein binding, ubiquitin-protein transferase activity, GO:1903955, GO:0097039, GO:0051092, GO:0050852, GO:0043123, GO:0023035, GO:0010803, GO:0007249, GO:0000209, positive regulation of protein targeting to mitochondrion, protein linear polyubiquitination, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, positive regulation of I-kappaB kinase/NF-kappaB signaling, CD40 signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, I-kappaB kinase/NF-kappaB signaling, protein polyubiquitination, 367 383 412 179 266 219 221 221 221 ENSG00000092108 chr14 30622112 30735812 + SCFD1 protein_coding 23256 GO:0032580, GO:0005886, GO:0005829, GO:0005829, GO:0005801, GO:0005798, GO:0005789, GO:0000139, Golgi cisterna membrane, plasma membrane, cytosol, cytosol, cis-Golgi network, Golgi-associated vesicle, endoplasmic reticulum membrane, Golgi membrane, GO:0047485, GO:0044877, GO:0019905, GO:0019905, GO:0005515, protein N-terminus binding, protein-containing complex binding, syntaxin binding, syntaxin binding, protein binding, GO:1902902, GO:1901998, GO:0060628, GO:0051223, GO:0048208, GO:0016192, GO:0009636, GO:0006904, GO:0006892, GO:0006890, GO:0006888, GO:0006886, GO:0001666, GO:0000902, negative regulation of autophagosome assembly, toxin transport, regulation of ER to Golgi vesicle-mediated transport, regulation of protein transport, COPII vesicle coating, vesicle-mediated transport, response to toxic substance, vesicle docking involved in exocytosis, post-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, response to hypoxia, cell morphogenesis, 233 222 229 251 267 232 236 167 168 ENSG00000092140 chr14 30559123 30620063 + G2E3 protein_coding 55632 GO:0043231, GO:0005829, GO:0005794, GO:0005730, GO:0005634, intracellular membrane-bounded organelle, cytosol, Golgi apparatus, nucleolus, nucleus, GO:0046872, GO:0005515, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0016567, GO:0007275, GO:0006915, protein ubiquitination, multicellular organism development, apoptotic process, 169 130 228 164 152 180 177 93 103 ENSG00000092148 chr14 31100112 31207804 - HECTD1 protein_coding 25831 GO:0046872, GO:0005515, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0070534, GO:0048856, GO:0035904, GO:0003281, GO:0003170, protein K63-linked ubiquitination, anatomical structure development, aorta development, ventricular septum development, heart valve development, 788 691 1074 695 593 965 714 371 763 ENSG00000092199 chr14 21209136 21269494 - HNRNPC protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 3183 GO:0071013, GO:0070062, GO:0032991, GO:0032991, GO:0016020, GO:0015629, GO:0005829, GO:0005697, GO:0005681, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, GO:0000785, catalytic step 2 spliceosome, extracellular exosome, protein-containing complex, protein-containing complex, membrane, actin cytoskeleton, cytosol, telomerase holoenzyme complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, chromatin, GO:1990247, GO:0070034, GO:0042802, GO:0031492, GO:0008266, GO:0005515, GO:0003730, GO:0003723, GO:0003723, GO:0003723, GO:0003723, N6-methyladenosine-containing RNA binding, telomerase RNA binding, identical protein binding, nucleosomal DNA binding, poly(U) RNA binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA binding, RNA binding, RNA binding, GO:0070935, GO:0043044, GO:0032211, GO:0016070, GO:0008380, GO:0001649, GO:0000398, GO:0000398, GO:0000398, 3'-UTR-mediated mRNA stabilization, ATP-dependent chromatin remodeling, negative regulation of telomere maintenance via telomerase, RNA metabolic process, RNA splicing, osteoblast differentiation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 7924 6275 8528 2978 4191 4039 3609 4055 3336 ENSG00000092200 chr14 21287939 21351301 + RPGRIP1 protein_coding This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]. 57096 GO:0120206, GO:0035869, GO:0032391, GO:0032391, GO:0005930, photoreceptor distal connecting cilium, ciliary transition zone, photoreceptor connecting cilium, photoreceptor connecting cilium, axoneme, GO:0005515, protein binding, GO:1905515, GO:0061351, GO:0050896, GO:0046548, GO:0007601, non-motile cilium assembly, neural precursor cell proliferation, response to stimulus, retinal rod cell development, visual perception, 303 492 349 374 899 525 366 577 436 ENSG00000092201 chr14 21351472 21384266 - SUPT16H protein_coding Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009]. 11198 GO:0035101, GO:0005654, GO:0005654, FACT complex, nucleoplasm, nucleoplasm, GO:0031491, GO:0005515, GO:0003723, nucleosome binding, protein binding, RNA binding, GO:1901796, GO:0034724, GO:0032968, GO:0032786, GO:0016032, GO:0006368, GO:0006368, GO:0006366, GO:0006337, GO:0006281, GO:0006260, regulation of signal transduction by p53 class mediator, DNA replication-independent nucleosome organization, positive regulation of transcription elongation from RNA polymerase II promoter, positive regulation of DNA-templated transcription, elongation, viral process, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, nucleosome disassembly, DNA repair, DNA replication, 364 396 422 249 268 311 236 246 201 ENSG00000092203 chr14 21476597 21499175 + TOX4 protein_coding 9878 GO:0072357, GO:0005634, GO:0000785, GO:0000781, PTW/PP1 phosphatase complex, nucleus, chromatin, chromosome, telomeric region, GO:0031490, GO:0005515, chromatin DNA binding, protein binding, GO:0006357, regulation of transcription by RNA polymerase II, 2427 2366 2790 1135 1604 1315 1098 1156 1148 ENSG00000092208 chr14 39114223 39136973 + GEMIN2 protein_coding This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]. 8487 GO:0097504, GO:0034719, GO:0032797, GO:0032797, GO:0016604, GO:0005829, GO:0005829, GO:0005730, GO:0005681, GO:0005654, GO:0005654, GO:0005634, Gemini of coiled bodies, SMN-Sm protein complex, SMN complex, SMN complex, nuclear body, cytosol, cytosol, nucleolus, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0051170, GO:0008380, GO:0006397, GO:0000387, GO:0000387, GO:0000387, GO:0000375, GO:0000245, import into nucleus, RNA splicing, mRNA processing, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, RNA splicing, via transesterification reactions, spliceosomal complex assembly, 12 11 11 19 8 18 7 5 4 ENSG00000092295 chr14 24249114 24264432 - TGM1 protein_coding The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]. 7051 GO:0070062, GO:0031224, GO:0016020, GO:0005886, GO:0005829, GO:0001533, extracellular exosome, intrinsic component of membrane, membrane, plasma membrane, cytosol, cornified envelope, GO:0046872, GO:0042802, GO:0005515, GO:0003810, GO:0003810, metal ion binding, identical protein binding, protein binding, protein-glutamine gamma-glutamyltransferase activity, protein-glutamine gamma-glutamyltransferase activity, GO:0070268, GO:0045787, GO:0043163, GO:0030216, GO:0018149, GO:0018149, GO:0010838, GO:0006464, cornification, positive regulation of cell cycle, cell envelope organization, keratinocyte differentiation, peptide cross-linking, peptide cross-linking, positive regulation of keratinocyte proliferation, cellular protein modification process, 20 18 12 35 18 5 40 17 22 ENSG00000092330 chr14 24239643 24242674 - TINF2 protein_coding This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]. 26277 GO:0070187, GO:0070187, GO:0070187, GO:0016604, GO:0016363, GO:0010370, GO:0005654, GO:0005654, GO:0000783, GO:0000781, GO:0000781, shelterin complex, shelterin complex, shelterin complex, nuclear body, nuclear matrix, perinucleolar chromocenter, nucleoplasm, nucleoplasm, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, GO:0042162, GO:0042162, GO:0005515, GO:0003677, telomeric DNA binding, telomeric DNA binding, protein binding, DNA binding, GO:1904356, GO:1904356, GO:0070198, GO:0070198, GO:0050680, GO:0032211, GO:0032211, GO:0032202, GO:0016233, GO:0016233, GO:0016233, GO:0016233, GO:0010836, regulation of telomere maintenance via telomere lengthening, regulation of telomere maintenance via telomere lengthening, protein localization to chromosome, telomeric region, protein localization to chromosome, telomeric region, negative regulation of epithelial cell proliferation, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, telomere assembly, telomere capping, telomere capping, telomere capping, telomere capping, negative regulation of protein ADP-ribosylation, 1270 1113 1466 675 834 877 743 714 700 ENSG00000092345 chr3 16586792 16670306 - DAZL protein_coding The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 1618 GO:0032991, GO:0005737, GO:0005634, protein-containing complex, cytoplasm, nucleus, GO:0008494, GO:0008494, GO:0005515, GO:0003730, GO:0003723, translation activator activity, translation activator activity, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0070935, GO:0045948, GO:0045948, GO:0007283, GO:0007281, GO:0007275, 3'-UTR-mediated mRNA stabilization, positive regulation of translational initiation, positive regulation of translational initiation, spermatogenesis, germ cell development, multicellular organism development, 0 0 0 0 0 0 2 0 0 ENSG00000092377 chrY 6910686 7091683 + TBL1Y protein_coding The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 90665 GO:0005634, GO:0000118, nucleus, histone deacetylase complex, GO:0005515, GO:0003714, protein binding, transcription corepressor activity, GO:1903507, GO:0016575, GO:0006357, negative regulation of nucleic acid-templated transcription, histone deacetylation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000092421 chr5 116443616 116574934 - SEMA6A protein_coding The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]. 57556 GO:0030424, GO:0016021, GO:0005887, GO:0005615, axon, integral component of membrane, integral component of plasma membrane, extracellular space, GO:0045499, GO:0030215, GO:0005515, chemorepellent activity, semaphorin receptor binding, protein binding, GO:2001224, GO:1903671, GO:1900747, GO:0106089, GO:0071526, GO:0070373, GO:0050919, GO:0048843, GO:0035924, GO:0030335, GO:0016525, GO:0009887, GO:0007411, GO:0007411, GO:0007399, GO:0007166, GO:0007010, GO:0006915, GO:0001755, positive regulation of neuron migration, negative regulation of sprouting angiogenesis, negative regulation of vascular endothelial growth factor signaling pathway, negative regulation of cell adhesion involved in sprouting angiogenesis, semaphorin-plexin signaling pathway, negative regulation of ERK1 and ERK2 cascade, negative chemotaxis, negative regulation of axon extension involved in axon guidance, cellular response to vascular endothelial growth factor stimulus, positive regulation of cell migration, negative regulation of angiogenesis, animal organ morphogenesis, axon guidance, axon guidance, nervous system development, cell surface receptor signaling pathway, cytoskeleton organization, apoptotic process, neural crest cell migration, 3 8 12 12 21 44 4 22 4 ENSG00000092439 chr15 50552473 50686815 - TRPM7 protein_coding This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]. 54822 GO:0005887, GO:0005886, GO:0001726, integral component of plasma membrane, plasma membrane, ruffle, GO:0106311, GO:0106310, GO:0046872, GO:0017022, GO:0005524, GO:0005262, GO:0005261, GO:0003779, protein threonine kinase activity, protein serine kinase activity, metal ion binding, myosin binding, ATP binding, calcium channel activity, cation channel activity, actin binding, GO:0098655, GO:0072507, GO:0070838, GO:0070588, GO:0070266, GO:0051262, GO:0046777, GO:0031032, GO:0016340, GO:0010961, GO:0006816, cation transmembrane transport, divalent inorganic cation homeostasis, divalent metal ion transport, calcium ion transmembrane transport, necroptotic process, protein tetramerization, protein autophosphorylation, actomyosin structure organization, calcium-dependent cell-matrix adhesion, cellular magnesium ion homeostasis, calcium ion transport, 223 236 364 356 278 377 324 191 239 ENSG00000092445 chr15 41557675 41583586 + TYRO3 protein_coding The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]. 7301 GO:0043235, GO:0009986, GO:0005887, GO:0005887, GO:0005789, GO:0005635, GO:0005634, receptor complex, cell surface, integral component of plasma membrane, integral component of plasma membrane, endoplasmic reticulum membrane, nuclear envelope, nucleus, GO:0043548, GO:0005524, GO:0005515, GO:0004714, GO:0004714, GO:0004713, GO:0001618, phosphatidylinositol 3-kinase binding, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, virus receptor activity, GO:0070527, GO:0070527, GO:0070050, GO:0060068, GO:0051250, GO:0050728, GO:0046777, GO:0046718, GO:0045824, GO:0043524, GO:0043491, GO:0043277, GO:0042698, GO:0034446, GO:0034122, GO:0033674, GO:0032940, GO:0030168, GO:0021885, GO:0018108, GO:0016477, GO:0014065, GO:0007399, GO:0007283, GO:0007275, GO:0007218, GO:0007169, GO:0007165, GO:0007155, GO:0006909, GO:0001779, platelet aggregation, platelet aggregation, neuron cellular homeostasis, vagina development, negative regulation of lymphocyte activation, negative regulation of inflammatory response, protein autophosphorylation, viral entry into host cell, negative regulation of innate immune response, negative regulation of neuron apoptotic process, protein kinase B signaling, apoptotic cell clearance, ovulation cycle, substrate adhesion-dependent cell spreading, negative regulation of toll-like receptor signaling pathway, positive regulation of kinase activity, secretion by cell, platelet activation, forebrain cell migration, peptidyl-tyrosine phosphorylation, cell migration, phosphatidylinositol 3-kinase signaling, nervous system development, spermatogenesis, multicellular organism development, neuropeptide signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, cell adhesion, phagocytosis, natural killer cell differentiation, 0 0 1 0 0 0 0 0 0 ENSG00000092470 chr15 43826963 43868419 + WDR76 protein_coding 79968 GO:0090734, GO:0005634, GO:0005634, GO:0000792, site of DNA damage, nucleus, nucleus, heterochromatin, GO:0019899, GO:0005515, GO:0003677, enzyme binding, protein binding, DNA binding, GO:2000001, GO:0006974, regulation of DNA damage checkpoint, cellular response to DNA damage stimulus, 9 2 11 25 6 11 21 7 32 ENSG00000092529 chr15 42359500 42412318 + CAPN3 protein_coding Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]. 825 GO:0032991, GO:0030315, GO:0030018, GO:0030016, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005622, protein-containing complex, T-tubule, Z disc, myofibril, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, intracellular anatomical structure, GO:0060090, GO:0055103, GO:0031432, GO:0031402, GO:0008307, GO:0008234, GO:0008233, GO:0005515, GO:0005509, GO:0004198, GO:0004198, GO:0004198, GO:0003824, molecular adaptor activity, ligase regulator activity, titin binding, sodium ion binding, structural constituent of muscle, cysteine-type peptidase activity, peptidase activity, protein binding, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, calcium-dependent cysteine-type endopeptidase activity, calcium-dependent cysteine-type endopeptidase activity, catalytic activity, GO:1990092, GO:0097264, GO:0072657, GO:0071472, GO:0071277, GO:0070315, GO:0065003, GO:0061061, GO:0051592, GO:0051281, GO:0051092, GO:0050790, GO:0046716, GO:0045893, GO:0045892, GO:0045862, GO:0045661, GO:0045214, GO:0043122, GO:0043066, GO:0043066, GO:0033234, GO:0031648, GO:0030239, GO:0030239, GO:0030163, GO:0014850, GO:0014718, GO:0007517, GO:0006915, GO:0006508, GO:0006508, calcium-dependent self proteolysis, self proteolysis, protein localization to membrane, cellular response to salt stress, cellular response to calcium ion, G1 to G0 transition involved in cell differentiation, protein-containing complex assembly, muscle structure development, response to calcium ion, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of NF-kappaB transcription factor activity, regulation of catalytic activity, muscle cell cellular homeostasis, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of proteolysis, regulation of myoblast differentiation, sarcomere organization, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of protein sumoylation, protein destabilization, myofibril assembly, myofibril assembly, protein catabolic process, response to muscle activity, positive regulation of satellite cell activation involved in skeletal muscle regeneration, muscle organ development, apoptotic process, proteolysis, proteolysis, 11 8 7 6 11 20 10 12 28 ENSG00000092531 chr15 42491233 42545356 + SNAP23 protein_coding Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 8773 GO:0098793, GO:0070821, GO:0070062, GO:0043005, GO:0042582, GO:0042581, GO:0035579, GO:0031201, GO:0031201, GO:0030670, GO:0005925, GO:0005912, GO:0005886, GO:0005886, GO:0005886, GO:0005739, GO:0005737, GO:0005654, presynapse, tertiary granule membrane, extracellular exosome, neuron projection, azurophil granule, specific granule, specific granule membrane, SNARE complex, SNARE complex, phagocytic vesicle membrane, focal adhesion, adherens junction, plasma membrane, plasma membrane, plasma membrane, mitochondrion, cytoplasm, nucleoplasm, GO:0019905, GO:0019905, GO:0005515, GO:0005484, syntaxin binding, syntaxin binding, protein binding, SNAP receptor activity, GO:0061025, GO:0043312, GO:0031629, GO:0016082, GO:0015031, GO:0006906, GO:0006903, GO:0006892, GO:0006887, GO:0002553, GO:0002479, membrane fusion, neutrophil degranulation, synaptic vesicle fusion to presynaptic active zone membrane, synaptic vesicle priming, protein transport, vesicle fusion, vesicle targeting, post-Golgi vesicle-mediated transport, exocytosis, histamine secretion by mast cell, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 2968 2452 3047 1276 1995 1920 1593 1958 1765 ENSG00000092607 chr1 118883046 118989556 - TBX15 protein_coding This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]. 6913 GO:0090571, GO:0000785, GO:0000785, RNA polymerase II transcription repressor complex, chromatin, chromatin, GO:1990837, GO:0042803, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein homodimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048701, GO:0006357, GO:0001708, embryonic cranial skeleton morphogenesis, regulation of transcription by RNA polymerase II, cell fate specification, 0 0 0 0 0 0 0 0 0 ENSG00000092621 chr1 119648411 119744226 + PHGDH protein_coding This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]. 26227 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0051287, GO:0030060, GO:0009055, GO:0004617, NAD binding, L-malate dehydrogenase activity, electron transfer activity, phosphoglycerate dehydrogenase activity, GO:0070314, GO:0031175, GO:0022900, GO:0021915, GO:0021782, GO:0021510, GO:0019530, GO:0010468, GO:0009448, GO:0007420, GO:0006566, GO:0006564, GO:0006544, GO:0006541, GO:0006520, G1 to G0 transition, neuron projection development, electron transport chain, neural tube development, glial cell development, spinal cord development, taurine metabolic process, regulation of gene expression, gamma-aminobutyric acid metabolic process, brain development, threonine metabolic process, L-serine biosynthetic process, glycine metabolic process, glutamine metabolic process, cellular amino acid metabolic process, 2 1 3 1 4 33 4 4 12 ENSG00000092758 chr20 62816244 62841159 + COL9A3 protein_coding This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]. 1299 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005604, GO:0005594, GO:0005594, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, basement membrane, collagen type IX trimer, collagen type IX trimer, extracellular region, GO:0030020, GO:0030020, GO:0005201, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, GO:0030198, GO:0030198, GO:0008585, GO:0008584, extracellular matrix organization, extracellular matrix organization, female gonad development, male gonad development, 89 94 187 40 98 111 40 84 108 ENSG00000092820 chr6 158765741 158819412 - EZR protein_coding The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]. 7430 GO:0098592, GO:0097454, GO:0097449, GO:0071944, GO:0071437, GO:0070062, GO:0051286, GO:0048471, GO:0045177, GO:0044853, GO:0044393, GO:0044297, GO:0042995, GO:0036064, GO:0032991, GO:0032587, GO:0031982, GO:0031528, GO:0030863, GO:0030315, GO:0030175, GO:0019898, GO:0016324, GO:0016323, GO:0016020, GO:0015629, GO:0005925, GO:0005925, GO:0005903, GO:0005902, GO:0005886, GO:0005884, GO:0005829, GO:0005829, GO:0005768, GO:0005737, GO:0005615, GO:0001931, GO:0001772, GO:0001772, GO:0001726, GO:0001650, cytoplasmic side of apical plasma membrane, Schwann cell microvillus, astrocyte projection, cell periphery, invadopodium, extracellular exosome, cell tip, perinuclear region of cytoplasm, apical part of cell, plasma membrane raft, microspike, cell body, cell projection, ciliary basal body, protein-containing complex, ruffle membrane, vesicle, microvillus membrane, cortical cytoskeleton, T-tubule, filopodium, extrinsic component of membrane, apical plasma membrane, basolateral plasma membrane, membrane, actin cytoskeleton, focal adhesion, focal adhesion, brush border, microvillus, plasma membrane, actin filament, cytosol, cytosol, endosome, cytoplasm, extracellular space, uropod, immunological synapse, immunological synapse, ruffle, fibrillar center, GO:0097718, GO:0051117, GO:0051018, GO:0051015, GO:0050839, GO:0045296, GO:0044548, GO:0042802, GO:0034237, GO:0034236, GO:0019904, GO:0008022, GO:0008017, GO:0005515, GO:0003779, GO:0003723, disordered domain specific binding, ATPase binding, protein kinase A binding, actin filament binding, cell adhesion molecule binding, cadherin binding, S100 protein binding, identical protein binding, protein kinase A regulatory subunit binding, protein kinase A catalytic subunit binding, protein domain specific binding, protein C-terminus binding, microtubule binding, protein binding, actin binding, RNA binding, GO:2000643, GO:2000643, GO:1903753, GO:1903364, GO:1903078, GO:1902966, GO:1902896, GO:1902115, GO:1902115, GO:1901222, GO:0072697, GO:0072659, GO:0071320, GO:0070373, GO:0061028, GO:0051660, GO:0051017, GO:0050860, GO:0050714, GO:0048015, GO:0046847, GO:0045198, GO:0043622, GO:0040018, GO:0034629, GO:0032956, GO:0032703, GO:0032532, GO:0031623, GO:0031532, GO:0030953, GO:0030033, GO:0022614, GO:0022612, GO:0010737, GO:0010628, GO:0008361, GO:0008360, GO:0007411, GO:0007159, GO:0003376, GO:0001951, GO:0000122, positive regulation of early endosome to late endosome transport, positive regulation of early endosome to late endosome transport, negative regulation of p38MAPK cascade, positive regulation of cellular protein catabolic process, positive regulation of protein localization to plasma membrane, positive regulation of protein localization to early endosome, terminal web assembly, regulation of organelle assembly, regulation of organelle assembly, regulation of NIK/NF-kappaB signaling, protein localization to cell cortex, protein localization to plasma membrane, cellular response to cAMP, negative regulation of ERK1 and ERK2 cascade, establishment of endothelial barrier, establishment of centrosome localization, actin filament bundle assembly, negative regulation of T cell receptor signaling pathway, positive regulation of protein secretion, phosphatidylinositol-mediated signaling, filopodium assembly, establishment of epithelial cell apical/basal polarity, cortical microtubule organization, positive regulation of multicellular organism growth, cellular protein-containing complex localization, regulation of actin cytoskeleton organization, negative regulation of interleukin-2 production, regulation of microvillus length, receptor internalization, actin cytoskeleton reorganization, astral microtubule organization, microvillus assembly, membrane to membrane docking, gland morphogenesis, protein kinase A signaling, positive regulation of gene expression, regulation of cell size, regulation of cell shape, axon guidance, leukocyte cell-cell adhesion, sphingosine-1-phosphate receptor signaling pathway, intestinal D-glucose absorption, negative regulation of transcription by RNA polymerase II, 1085 877 1752 1495 791 1858 1781 682 1285 ENSG00000092841 chr12 56158161 56163496 + MYL6 protein_coding Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 4637 GO:0070062, GO:0031982, GO:0016461, GO:0016459, GO:0016020, GO:0005903, GO:0005829, extracellular exosome, vesicle, unconventional myosin complex, myosin complex, membrane, brush border, cytosol, GO:0030898, GO:0008307, GO:0005515, GO:0005509, GO:0003774, actin-dependent ATPase activity, structural constituent of muscle, protein binding, calcium ion binding, motor activity, GO:0030049, GO:0007519, GO:0006936, muscle filament sliding, skeletal muscle tissue development, muscle contraction, 4738 4505 6258 5551 7577 6360 5289 5821 4716 ENSG00000092847 chr1 35869808 35930528 + AGO1 protein_coding This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]. 26523 GO:1990904, GO:0070578, GO:0016442, GO:0005844, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000932, ribonucleoprotein complex, RISC-loading complex, RISC complex, polysome, cytosol, cytoplasm, nucleoplasm, nucleus, P-body, GO:0035198, GO:0005515, GO:0004521, GO:0003727, GO:0003725, GO:0003723, GO:0003723, GO:0001046, GO:0000993, GO:0000978, miRNA binding, protein binding, endoribonuclease activity, single-stranded RNA binding, double-stranded RNA binding, RNA binding, RNA binding, core promoter sequence-specific DNA binding, RNA polymerase II complex binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901224, GO:0090625, GO:0090502, GO:0060964, GO:0045944, GO:0045652, GO:0035280, GO:0035279, GO:0035278, GO:0035196, GO:0035194, GO:0031054, GO:0016525, GO:0010629, GO:0010628, GO:0010586, GO:0010501, GO:0010501, GO:0007223, GO:0000956, positive regulation of NIK/NF-kappaB signaling, mRNA cleavage involved in gene silencing by siRNA, RNA phosphodiester bond hydrolysis, endonucleolytic, regulation of gene silencing by miRNA, positive regulation of transcription by RNA polymerase II, regulation of megakaryocyte differentiation, miRNA loading onto RISC involved in gene silencing by miRNA, mRNA cleavage involved in gene silencing by miRNA, miRNA mediated inhibition of translation, production of miRNAs involved in gene silencing by miRNA, post-transcriptional gene silencing by RNA, pre-miRNA processing, negative regulation of angiogenesis, negative regulation of gene expression, positive regulation of gene expression, miRNA metabolic process, RNA secondary structure unwinding, RNA secondary structure unwinding, Wnt signaling pathway, calcium modulating pathway, nuclear-transcribed mRNA catabolic process, 706 852 870 642 982 842 836 721 722 ENSG00000092850 chr1 36084075 36088275 + TEKT2 protein_coding This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]. 27285 GO:0031514, GO:0015630, GO:0005874, GO:0005815, GO:0005737, GO:0005634, motile cilium, microtubule cytoskeleton, microtubule, microtubule organizing center, cytoplasm, nucleus, GO:0060294, GO:0060271, GO:0036159, GO:0030317, cilium movement involved in cell motility, cilium assembly, inner dynein arm assembly, flagellated sperm motility, 1 9 2 0 3 8 1 6 12 ENSG00000092853 chr1 35720218 35769967 - CLSPN protein_coding The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 63967 GO:0005794, GO:0005654, GO:0005654, GO:0005634, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, GO:0010997, GO:0010997, GO:0005515, GO:0000217, anaphase-promoting complex binding, anaphase-promoting complex binding, protein binding, DNA secondary structure binding, GO:0033314, GO:0033314, GO:0032147, GO:0032147, GO:0018105, GO:0016579, GO:0007095, GO:0007095, GO:0006281, GO:0006260, GO:0000077, GO:0000076, mitotic DNA replication checkpoint, mitotic DNA replication checkpoint, activation of protein kinase activity, activation of protein kinase activity, peptidyl-serine phosphorylation, protein deubiquitination, mitotic G2 DNA damage checkpoint, mitotic G2 DNA damage checkpoint, DNA repair, DNA replication, DNA damage checkpoint, DNA replication checkpoint, 6 14 19 3 9 9 6 11 14 ENSG00000092871 chr17 35005990 35089319 - RFFL protein_coding 117584 GO:0055038, GO:0016020, GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005764, GO:0005737, GO:0005737, GO:0005654, GO:0000139, recycling endosome membrane, membrane, endosome membrane, plasma membrane, plasma membrane, cytosol, lysosome, cytoplasm, cytoplasm, nucleoplasm, Golgi membrane, GO:0061630, GO:0061630, GO:0046872, GO:0031625, GO:0019901, GO:0005515, GO:0002039, GO:0002020, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ubiquitin protein ligase binding, protein kinase binding, protein binding, p53 binding, protease binding, GO:2001271, GO:2001271, GO:1902042, GO:1902042, GO:1901797, GO:0070936, GO:0070936, GO:0043161, GO:0043161, GO:0032006, GO:0010804, GO:0010762, GO:0006915, GO:0006511, GO:0006511, negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis, negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of signal transduction by p53 class mediator, protein K48-linked ubiquitination, protein K48-linked ubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of TOR signaling, negative regulation of tumor necrosis factor-mediated signaling pathway, regulation of fibroblast migration, apoptotic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 1088 962 1529 545 998 832 727 776 765 ENSG00000092929 chr17 75827225 75844717 - UNC13D protein_coding This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]. 201294 GO:0070382, GO:0055037, GO:0043231, GO:0035578, GO:0033093, GO:0016020, GO:0005829, GO:0005770, GO:0005764, GO:0005576, exocytic vesicle, recycling endosome, intracellular membrane-bounded organelle, azurophil granule lumen, Weibel-Palade body, membrane, cytosol, late endosome, lysosome, extracellular region, GO:0046872, GO:0031267, GO:0031267, GO:0005515, metal ion binding, small GTPase binding, small GTPase binding, protein binding, GO:1903307, GO:1900026, GO:0051607, GO:0045921, GO:0043320, GO:0043312, GO:0043304, GO:0006909, GO:0002467, GO:0002432, positive regulation of regulated secretory pathway, positive regulation of substrate adhesion-dependent cell spreading, defense response to virus, positive regulation of exocytosis, natural killer cell degranulation, neutrophil degranulation, regulation of mast cell degranulation, phagocytosis, germinal center formation, granuloma formation, 3083 3814 4954 2731 4228 4313 2827 3039 3308 ENSG00000092931 chr17 76735865 76781449 + MFSD11 protein_coding 79157 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 783 791 1108 3937 4487 4468 3588 2847 3543 ENSG00000092964 chr8 26514022 26658178 + DPYSL2 protein_coding This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 1808 GO:0070062, GO:0016020, GO:0005886, GO:0005874, GO:0005829, GO:0005829, extracellular exosome, membrane, plasma membrane, microtubule, cytosol, cytosol, GO:0042802, GO:0008017, GO:0005515, GO:0004157, identical protein binding, microtubule binding, protein binding, dihydropyrimidinase activity, GO:0030516, GO:0007420, GO:0007411, GO:0007399, GO:0007165, GO:0007010, GO:0006897, GO:0006208, GO:0006139, regulation of axon extension, brain development, axon guidance, nervous system development, signal transduction, cytoskeleton organization, endocytosis, pyrimidine nucleobase catabolic process, nucleobase-containing compound metabolic process, 16 15 11 23 18 42 37 15 13 ENSG00000092969 chr1 218346235 218444619 + TGFB2 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]. 7042 GO:0062023, GO:0043025, GO:0031093, GO:0030424, GO:0005615, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, neuronal cell body, platelet alpha granule lumen, axon, extracellular space, extracellular space, extracellular region, extracellular region, GO:0042803, GO:0034714, GO:0034714, GO:0034714, GO:0008083, GO:0005515, GO:0005160, GO:0005125, GO:0005114, GO:0005114, GO:0005114, GO:0005114, GO:0005102, GO:0001540, protein homodimerization activity, type III transforming growth factor beta receptor binding, type III transforming growth factor beta receptor binding, type III transforming growth factor beta receptor binding, growth factor activity, protein binding, transforming growth factor beta receptor binding, cytokine activity, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, signaling receptor binding, amyloid-beta binding, GO:1905007, GO:1905006, GO:1904888, GO:1903701, GO:1903659, GO:1902895, GO:1902256, GO:0097191, GO:0062009, GO:0061626, GO:0060413, GO:0060412, GO:0060395, GO:0060395, GO:0060389, GO:0060317, GO:0060065, GO:0060038, GO:0051891, GO:0051795, GO:0051794, GO:0051781, GO:0050778, GO:0050714, GO:0050680, GO:0050680, GO:0048839, GO:0048699, GO:0048666, GO:0048566, GO:0048103, GO:0046580, GO:0045823, GO:0045787, GO:0045778, GO:0045747, GO:0045726, GO:0045216, GO:0043525, GO:0042704, GO:0042493, GO:0042476, GO:0042416, GO:0042127, GO:0042060, GO:0035910, GO:0033630, GO:0032909, GO:0032874, GO:0032570, GO:0032147, GO:0031069, GO:0030593, GO:0030509, GO:0030326, GO:0030308, GO:0030307, GO:0030199, GO:0030097, GO:0016525, GO:0016477, GO:0014068, GO:0010936, GO:0010862, GO:0010718, GO:0010693, GO:0010634, GO:0010629, GO:0010002, GO:0009792, GO:0009611, GO:0008584, GO:0008347, GO:0008285, GO:0008284, GO:0008219, GO:0007507, GO:0007435, GO:0007179, GO:0007179, GO:0007050, GO:0006468, GO:0003407, GO:0003289, GO:0003274, GO:0003222, GO:0003215, GO:0003203, GO:0003184, GO:0003181, GO:0003179, GO:0003149, GO:0003148, GO:0003007, GO:0002576, GO:0001942, GO:0001942, GO:0001843, GO:0001837, GO:0001837, GO:0001822, GO:0001666, GO:0001654, GO:0001501, GO:0000902, positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, cranial skeletal system development, substantia propria of cornea development, regulation of complement-dependent cytotoxicity, positive regulation of pri-miRNA transcription by RNA polymerase II, regulation of apoptotic process involved in outflow tract morphogenesis, extrinsic apoptotic signaling pathway, secondary palate development, pharyngeal arch artery morphogenesis, atrial septum morphogenesis, ventricular septum morphogenesis, SMAD protein signal transduction, SMAD protein signal transduction, pathway-restricted SMAD protein phosphorylation, cardiac epithelial to mesenchymal transition, uterus development, cardiac muscle cell proliferation, positive regulation of cardioblast differentiation, positive regulation of timing of catagen, regulation of timing of catagen, positive regulation of cell division, positive regulation of immune response, positive regulation of protein secretion, negative regulation of epithelial cell proliferation, negative regulation of epithelial cell proliferation, inner ear development, generation of neurons, neuron development, embryonic digestive tract development, somatic stem cell division, negative regulation of Ras protein signal transduction, positive regulation of heart contraction, positive regulation of cell cycle, positive regulation of ossification, positive regulation of Notch signaling pathway, positive regulation of integrin biosynthetic process, cell-cell junction organization, positive regulation of neuron apoptotic process, uterine wall breakdown, response to drug, odontogenesis, dopamine biosynthetic process, regulation of cell population proliferation, wound healing, ascending aorta morphogenesis, positive regulation of cell adhesion mediated by integrin, regulation of transforming growth factor beta2 production, positive regulation of stress-activated MAPK cascade, response to progesterone, activation of protein kinase activity, hair follicle morphogenesis, neutrophil chemotaxis, BMP signaling pathway, embryonic limb morphogenesis, negative regulation of cell growth, positive regulation of cell growth, collagen fibril organization, hemopoiesis, negative regulation of angiogenesis, cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of macrophage cytokine production, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial to mesenchymal transition, negative regulation of alkaline phosphatase activity, positive regulation of epithelial cell migration, negative regulation of gene expression, cardioblast differentiation, embryo development ending in birth or egg hatching, response to wounding, male gonad development, glial cell migration, negative regulation of cell population proliferation, positive regulation of cell population proliferation, cell death, heart development, salivary gland morphogenesis, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, cell cycle arrest, protein phosphorylation, neural retina development, atrial septum primum morphogenesis, endocardial cushion fusion, ventricular trabecula myocardium morphogenesis, cardiac right ventricle morphogenesis, endocardial cushion morphogenesis, pulmonary valve morphogenesis, atrioventricular valve morphogenesis, heart valve morphogenesis, membranous septum morphogenesis, outflow tract septum morphogenesis, heart morphogenesis, platelet degranulation, hair follicle development, hair follicle development, neural tube closure, epithelial to mesenchymal transition, epithelial to mesenchymal transition, kidney development, response to hypoxia, eye development, skeletal system development, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000092978 chr1 217426992 217631082 - GPATCH2 protein_coding The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 55105 GO:0016607, GO:0005730, nuclear speck, nucleolus, GO:0003676, nucleic acid binding, GO:0010923, GO:0010923, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 41 19 75 45 4 72 72 10 48 ENSG00000093000 chr22 45163841 45188015 + NUP50 protein_coding The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10762 GO:0043657, GO:0043231, GO:0031965, GO:0005654, GO:0005654, GO:0005643, host cell, intracellular membrane-bounded organelle, nuclear membrane, nucleoplasm, nucleoplasm, nuclear pore, GO:0005515, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006606, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 3405 2852 3377 1049 1729 1256 1218 1254 1072 ENSG00000093009 chr22 19479459 19520612 + CDC45 protein_coding The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 8318 GO:0036064, GO:0031261, GO:0005813, GO:0005737, GO:0005656, GO:0005654, GO:0005654, GO:0005634, ciliary basal body, DNA replication preinitiation complex, centrosome, cytoplasm, nuclear pre-replicative complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003697, GO:0003688, GO:0003682, protein binding, single-stranded DNA binding, DNA replication origin binding, chromatin binding, GO:1902977, GO:0031938, GO:0006270, GO:0006260, GO:0000727, GO:0000083, GO:0000082, GO:0000076, mitotic DNA replication preinitiation complex assembly, regulation of chromatin silencing at telomere, DNA replication initiation, DNA replication, double-strand break repair via break-induced replication, regulation of transcription involved in G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, DNA replication checkpoint, 1 0 1 3 1 4 1 0 5 ENSG00000093010 chr22 19941607 19969975 + COMT protein_coding Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]. 1312 GO:0070062, GO:0045211, GO:0044297, GO:0043231, GO:0043197, GO:0030425, GO:0030424, GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005829, extracellular exosome, postsynaptic membrane, cell body, intracellular membrane-bounded organelle, dendritic spine, dendrite, axon, integral component of membrane, membrane, membrane, plasma membrane, cytosol, GO:0102938, GO:0102084, GO:0016206, GO:0016206, GO:0016206, GO:0008171, GO:0008168, GO:0005515, GO:0000287, orcinol O-methyltransferase activity, L-dopa O-methyltransferase activity, catechol O-methyltransferase activity, catechol O-methyltransferase activity, catechol O-methyltransferase activity, O-methyltransferase activity, methyltransferase activity, protein binding, magnesium ion binding, GO:0051930, GO:0050668, GO:0048662, GO:0048609, GO:0048265, GO:0045963, GO:0043627, GO:0042493, GO:0042424, GO:0042424, GO:0042420, GO:0042417, GO:0042135, GO:0035814, GO:0032502, GO:0032496, GO:0032259, GO:0032259, GO:0016036, GO:0014070, GO:0008210, GO:0007614, GO:0007612, GO:0007565, regulation of sensory perception of pain, positive regulation of homocysteine metabolic process, negative regulation of smooth muscle cell proliferation, multicellular organismal reproductive process, response to pain, negative regulation of dopamine metabolic process, response to estrogen, response to drug, catecholamine catabolic process, catecholamine catabolic process, dopamine catabolic process, dopamine metabolic process, neurotransmitter catabolic process, negative regulation of renal sodium excretion, developmental process, response to lipopolysaccharide, methylation, methylation, cellular response to phosphate starvation, response to organic cyclic compound, estrogen metabolic process, short-term memory, learning, female pregnancy, 16 9 16 40 41 28 32 17 36 ENSG00000093072 chr22 17178790 17258235 - ADA2 protein_coding This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 51816 GO:0035578, GO:0005615, GO:0005615, GO:0005576, azurophil granule lumen, extracellular space, extracellular space, extracellular region, GO:0043394, GO:0042803, GO:0031685, GO:0008270, GO:0008201, GO:0008083, GO:0004000, GO:0004000, proteoglycan binding, protein homodimerization activity, adenosine receptor binding, zinc ion binding, heparin binding, growth factor activity, adenosine deaminase activity, adenosine deaminase activity, GO:0046103, GO:0044267, GO:0043312, GO:0007275, GO:0007165, GO:0006154, GO:0006154, inosine biosynthetic process, cellular protein metabolic process, neutrophil degranulation, multicellular organism development, signal transduction, adenosine catabolic process, adenosine catabolic process, 70 227 202 281 297 457 227 203 266 ENSG00000093100 chr22 17787652 17811497 - AC016026.1 processed_transcript 0 1 0 1 1 2 0 0 0 ENSG00000093134 chr6 132722787 132734765 - VNN3 protein_coding This gene is the central gene in a cluster of three vanin genes on chromosome 6q23-q24. Extensive alternative splicing has been described; the two most common variants are represented as RefSeqs. [provided by RefSeq, Apr 2014]. 55350 GO:0005886, GO:0005576, GO:0005575, plasma membrane, extracellular region, cellular_component, GO:0017159, GO:0017159, pantetheine hydrolase activity, pantetheine hydrolase activity, GO:0015939, GO:0008150, pantothenate metabolic process, biological_process, 3654 3979 5204 1047 2616 1454 1098 1693 1194 ENSG00000093144 chr6 127288710 127343609 - ECHDC1 protein_coding 55862 GO:0005829, GO:0005829, cytosol, cytosol, GO:0016831, GO:0005515, GO:0004300, carboxy-lyase activity, protein binding, enoyl-CoA hydratase activity, GO:0006635, fatty acid beta-oxidation, 444 162 208 291 141 179 296 132 122 ENSG00000093167 chr3 37052656 37183689 - LRRFIP2 protein_coding The protein encoded by this gene, along with MYD88, binds to the cytosolic tail of toll-like receptor 4 (TLR4), which results in activation of nuclear factor kappa B signaling. The ubiquitin-like protein FAT10 prevents the interaction of the encoded protein and TLR4, thereby inactivating the nuclear factor kappa B signaling pathway. In addition, this protein can downregulate the NLRP3 inflammasome by recruiting the caspase-1 inhibitor Flightless-I to the inflammasome complex. [provided by RefSeq, Jan 2017]. 9209 GO:0005575, cellular_component, GO:0030275, GO:0005515, LRR domain binding, protein binding, GO:0016055, GO:0008150, GO:0006355, Wnt signaling pathway, biological_process, regulation of transcription, DNA-templated, 706 676 773 722 891 745 790 578 625 ENSG00000093183 chr3 42547969 42601080 - SEC22C protein_coding This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 9117 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0015031, GO:0006888, protein transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 138 129 216 375 235 304 228 158 185 ENSG00000093217 chr3 38346760 38421348 + XYLB protein_coding The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009]. 9942 GO:0005829, GO:0005829, cytosol, cytosol, GO:0016773, GO:0005524, GO:0004856, GO:0004856, GO:0004856, phosphotransferase activity, alcohol group as acceptor, ATP binding, xylulokinase activity, xylulokinase activity, xylulokinase activity, GO:0046835, GO:0042732, GO:0019640, GO:0016310, GO:0006091, GO:0005998, GO:0005997, GO:0005997, GO:0005975, carbohydrate phosphorylation, D-xylose metabolic process, glucuronate catabolic process to xylulose 5-phosphate, phosphorylation, generation of precursor metabolites and energy, xylulose catabolic process, xylulose metabolic process, xylulose metabolic process, carbohydrate metabolic process, 0 0 0 1 3 4 1 0 0 ENSG00000094631 chrX 48801377 48824982 + HDAC6 protein_coding Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008]. 10013 GO:0048471, GO:0043204, GO:0031252, GO:0030425, GO:0030424, GO:0030286, GO:0016235, GO:0016235, GO:0016234, GO:0005901, GO:0005875, GO:0005874, GO:0005829, GO:0005829, GO:0005771, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0000118, perinuclear region of cytoplasm, perikaryon, cell leading edge, dendrite, axon, dynein complex, aggresome, aggresome, inclusion body, caveola, microtubule associated complex, microtubule, cytosol, cytosol, multivesicular body, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, histone deacetylase complex, GO:0070840, GO:0051879, GO:0051787, GO:0048156, GO:0048156, GO:0048156, GO:0048156, GO:0047611, GO:0043014, GO:0042903, GO:0042903, GO:0042903, GO:0042903, GO:0042826, GO:0033558, GO:0032041, GO:0031625, GO:0031593, GO:0019899, GO:0008270, GO:0008017, GO:0008017, GO:0008013, GO:0005515, GO:0004407, GO:0004407, GO:0003779, GO:0001226, GO:0000978, dynein complex binding, Hsp90 protein binding, misfolded protein binding, tau protein binding, tau protein binding, tau protein binding, tau protein binding, acetylspermidine deacetylase activity, alpha-tubulin binding, tubulin deacetylase activity, tubulin deacetylase activity, tubulin deacetylase activity, tubulin deacetylase activity, histone deacetylase binding, protein deacetylase activity, NAD-dependent histone deacetylase activity (H3-K14 specific), ubiquitin protein ligase binding, polyubiquitin modification-dependent protein binding, enzyme binding, zinc ion binding, microtubule binding, microtubule binding, beta-catenin binding, protein binding, histone deacetylase activity, histone deacetylase activity, actin binding, RNA polymerase II transcription corepressor binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903146, GO:1901300, GO:0106048, GO:0106047, GO:0090042, GO:0090042, GO:0090042, GO:0070932, GO:0070848, GO:0070845, GO:0070842, GO:0070301, GO:0061734, GO:0060765, GO:0060632, GO:0060271, GO:0051788, GO:0051354, GO:0045892, GO:0045861, GO:0043242, GO:0040029, GO:0035967, GO:0034983, GO:0033138, GO:0032418, GO:0031647, GO:0031333, GO:0016575, GO:0016575, GO:0016241, GO:0010727, GO:0010634, GO:0010506, GO:0006914, GO:0006886, GO:0006515, GO:0006476, GO:0006476, GO:0006476, regulation of autophagy of mitochondrion, positive regulation of hydrogen peroxide-mediated programmed cell death, spermidine deacetylation, polyamine deacetylation, tubulin deacetylation, tubulin deacetylation, tubulin deacetylation, histone H3 deacetylation, response to growth factor, polyubiquitinated misfolded protein transport, aggresome assembly, cellular response to hydrogen peroxide, parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization, regulation of androgen receptor signaling pathway, regulation of microtubule-based movement, cilium assembly, response to misfolded protein, negative regulation of oxidoreductase activity, negative regulation of transcription, DNA-templated, negative regulation of proteolysis, negative regulation of protein-containing complex disassembly, regulation of gene expression, epigenetic, cellular response to topologically incorrect protein, peptidyl-lysine deacetylation, positive regulation of peptidyl-serine phosphorylation, lysosome localization, regulation of protein stability, negative regulation of protein-containing complex assembly, histone deacetylation, histone deacetylation, regulation of macroautophagy, negative regulation of hydrogen peroxide metabolic process, positive regulation of epithelial cell migration, regulation of autophagy, autophagy, intracellular protein transport, protein quality control for misfolded or incompletely synthesized proteins, protein deacetylation, protein deacetylation, protein deacetylation, 205 210 278 269 203 255 280 161 180 ENSG00000094661 chr19 15082211 15092970 + OR1I1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 126370 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000094755 chr5 170763350 170814047 + GABRP protein_coding The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. 2568 GO:1902711, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0005887, GABA-A receptor complex, postsynaptic membrane, synapse, neuron projection, chloride channel complex, integral component of plasma membrane, GO:0030594, GO:0005254, GO:0005230, GO:0004890, neurotransmitter receptor activity, chloride channel activity, extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:1902476, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007165, chloride transmembrane transport, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, signal transduction, 0 0 0 0 0 0 0 3 0 ENSG00000094796 chr17 41393724 41397592 - KRT31 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. 3881 GO:0070062, GO:0005882, GO:0005829, GO:0005615, extracellular exosome, intermediate filament, cytosol, extracellular space, GO:0005515, GO:0005200, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0031424, GO:0008544, GO:0007010, cornification, keratinization, epidermis development, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000094804 chr17 40287633 40304657 + CDC6 protein_coding The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]. 990 GO:0051233, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000922, spindle midzone, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, spindle pole, GO:0019900, GO:0005524, GO:0005515, GO:0003688, GO:0000166, kinase binding, ATP binding, protein binding, DNA replication origin binding, nucleotide binding, GO:1904385, GO:1904117, GO:0051984, GO:0051301, GO:0048146, GO:0045737, GO:0033314, GO:0032467, GO:0030071, GO:0008285, GO:0008156, GO:0007089, GO:0006270, GO:0006260, GO:0000278, GO:0000083, GO:0000082, GO:0000079, GO:0000076, cellular response to angiotensin, cellular response to vasopressin, positive regulation of chromosome segregation, cell division, positive regulation of fibroblast proliferation, positive regulation of cyclin-dependent protein serine/threonine kinase activity, mitotic DNA replication checkpoint, positive regulation of cytokinesis, regulation of mitotic metaphase/anaphase transition, negative regulation of cell population proliferation, negative regulation of DNA replication, traversing start control point of mitotic cell cycle, DNA replication initiation, DNA replication, mitotic cell cycle, regulation of transcription involved in G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, DNA replication checkpoint, 12 18 19 21 29 8 25 21 22 ENSG00000094841 chrX 75274085 75304600 + UPRT protein_coding This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009]. 139596 GO:0043231, GO:0005829, GO:0005654, intracellular membrane-bounded organelle, cytosol, nucleoplasm, GO:0016301, GO:0005525, GO:0005515, kinase activity, GTP binding, protein binding, GO:0032868, GO:0016310, GO:0009116, GO:0007595, GO:0007565, GO:0006222, response to insulin, phosphorylation, nucleoside metabolic process, lactation, female pregnancy, UMP biosynthetic process, 20 12 36 44 20 43 33 22 46 ENSG00000094880 chr5 138187648 138213343 - CDC23 protein_coding The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]. 8697 GO:0005829, GO:0005737, GO:0005680, GO:0005680, GO:0005654, cytosol, cytoplasm, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:1901990, GO:0070979, GO:0051301, GO:0045842, GO:0031145, GO:0031145, GO:0030071, GO:0016567, GO:0007096, GO:0007091, GO:0007080, GO:0006511, GO:0000278, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, cell division, positive regulation of mitotic metaphase/anaphase transition, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, regulation of mitotic metaphase/anaphase transition, protein ubiquitination, regulation of exit from mitosis, metaphase/anaphase transition of mitotic cell cycle, mitotic metaphase plate congression, ubiquitin-dependent protein catabolic process, mitotic cell cycle, 16 15 55 46 26 48 26 12 28 ENSG00000094914 chr12 53307456 53324864 - AAAS protein_coding The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 8086 GO:0072686, GO:0043657, GO:0031965, GO:0016020, GO:0005829, GO:0005813, GO:0005654, GO:0005643, GO:0005643, GO:0005635, GO:0005635, GO:0005634, GO:0000922, mitotic spindle, host cell, nuclear membrane, membrane, cytosol, centrosome, nucleoplasm, nuclear pore, nuclear pore, nuclear envelope, nuclear envelope, nucleus, spindle pole, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1900034, GO:0090307, GO:0075733, GO:0060964, GO:0046822, GO:0019083, GO:0016925, GO:0016032, GO:0009566, GO:0007612, GO:0006913, GO:0006913, GO:0006409, GO:0006406, GO:0006110, GO:0001578, regulation of cellular response to heat, mitotic spindle assembly, intracellular transport of virus, regulation of gene silencing by miRNA, regulation of nucleocytoplasmic transport, viral transcription, protein sumoylation, viral process, fertilization, learning, nucleocytoplasmic transport, nucleocytoplasmic transport, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, microtubule bundle formation, 48 82 72 101 107 131 72 72 62 ENSG00000094916 chr12 54230940 54280133 - CBX5 protein_coding This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 23468 GO:1990904, GO:0090734, GO:0035097, GO:0032991, GO:0017053, GO:0016605, GO:0010369, GO:0005730, GO:0005721, GO:0005721, GO:0005654, GO:0005654, GO:0005635, GO:0005634, GO:0000792, GO:0000781, GO:0000776, GO:0000118, ribonucleoprotein complex, site of DNA damage, histone methyltransferase complex, protein-containing complex, transcription repressor complex, PML body, chromocenter, nucleolus, pericentric heterochromatin, pericentric heterochromatin, nucleoplasm, nucleoplasm, nuclear envelope, nucleus, heterochromatin, chromosome, telomeric region, kinetochore, histone deacetylase complex, GO:0070491, GO:0044877, GO:0043021, GO:0042826, GO:0042802, GO:0035064, GO:0030674, GO:0005515, GO:0003682, repressing transcription factor binding, protein-containing complex binding, ribonucleoprotein complex binding, histone deacetylase binding, identical protein binding, methylated histone binding, protein-macromolecule adaptor activity, protein binding, chromatin binding, GO:0070317, GO:0045892, GO:0045892, GO:0016032, GO:0007596, GO:0006974, GO:0000122, negative regulation of G0 to G1 transition, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, viral process, blood coagulation, cellular response to DNA damage stimulus, negative regulation of transcription by RNA polymerase II, 56 58 102 153 32 167 116 29 50 ENSG00000094963 chr1 171185208 171211230 + FMO2 protein_coding This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. 2327 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0050661, GO:0050660, GO:0004499, GO:0004497, NADP binding, flavin adenine dinucleotide binding, N,N-dimethylaniline monooxygenase activity, monooxygenase activity, GO:0072592, GO:0070995, GO:0017144, GO:0009404, GO:0006805, GO:0006805, GO:0006739, GO:0006082, oxygen metabolic process, NADPH oxidation, drug metabolic process, toxin metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, NADP metabolic process, organic acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000094975 chr1 172532349 172611833 + SUCO protein_coding 51430 GO:0030867, GO:0016021, GO:0016020, GO:0016020, GO:0005791, GO:0005737, rough endoplasmic reticulum membrane, integral component of membrane, membrane, membrane, rough endoplasmic reticulum, cytoplasm, GO:0046850, GO:0046850, GO:0045669, GO:0032967, GO:0007275, GO:0001503, regulation of bone remodeling, regulation of bone remodeling, positive regulation of osteoblast differentiation, positive regulation of collagen biosynthetic process, multicellular organism development, ossification, 2424 1330 2668 1328 1015 1624 1614 701 1049 ENSG00000095002 chr2 47402969 47663146 + MSH2 protein_coding This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 4436 GO:0032302, GO:0032302, GO:0032301, GO:0032301, GO:0032300, GO:0016020, GO:0005654, GO:0005634, GO:0000781, MutSbeta complex, MutSbeta complex, MutSalpha complex, MutSalpha complex, mismatch repair complex, membrane, nucleoplasm, nucleus, chromosome, telomeric region, GO:0043531, GO:0042803, GO:0032405, GO:0032405, GO:0032357, GO:0032357, GO:0032181, GO:0032181, GO:0032143, GO:0032143, GO:0032142, GO:0032142, GO:0032139, GO:0032137, GO:0032137, GO:0032137, GO:0030983, GO:0030983, GO:0019901, GO:0019899, GO:0019237, GO:0016887, GO:0008094, GO:0008022, GO:0005524, GO:0005515, GO:0005515, GO:0003697, GO:0003690, GO:0003682, GO:0003677, GO:0000406, GO:0000400, GO:0000400, GO:0000287, ADP binding, protein homodimerization activity, MutLalpha complex binding, MutLalpha complex binding, oxidized purine DNA binding, oxidized purine DNA binding, dinucleotide repeat insertion binding, dinucleotide repeat insertion binding, single thymine insertion binding, single thymine insertion binding, single guanine insertion binding, single guanine insertion binding, dinucleotide insertion or deletion binding, guanine/thymine mispair binding, guanine/thymine mispair binding, guanine/thymine mispair binding, mismatched DNA binding, mismatched DNA binding, protein kinase binding, enzyme binding, centromeric DNA binding, ATPase activity, DNA-dependent ATPase activity, protein C-terminus binding, ATP binding, protein binding, protein binding, single-stranded DNA binding, double-stranded DNA binding, chromatin binding, DNA binding, double-strand/single-strand DNA junction binding, four-way junction DNA binding, four-way junction DNA binding, magnesium ion binding, GO:0071168, GO:0051096, GO:0048304, GO:0048298, GO:0045910, GO:0045910, GO:0045910, GO:0045190, GO:0043570, GO:0043570, GO:0043524, GO:0042771, GO:0031573, GO:0030183, GO:0019724, GO:0016447, GO:0016446, GO:0010224, GO:0010165, GO:0008584, GO:0008340, GO:0007281, GO:0007050, GO:0006310, GO:0006302, GO:0006301, GO:0006301, GO:0006298, GO:0006298, GO:0006298, GO:0006298, GO:0006281, GO:0006119, GO:0002204, GO:0001701, protein localization to chromatin, positive regulation of helicase activity, positive regulation of isotype switching to IgG isotypes, positive regulation of isotype switching to IgA isotypes, negative regulation of DNA recombination, negative regulation of DNA recombination, negative regulation of DNA recombination, isotype switching, maintenance of DNA repeat elements, maintenance of DNA repeat elements, negative regulation of neuron apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, intra-S DNA damage checkpoint, B cell differentiation, B cell mediated immunity, somatic recombination of immunoglobulin gene segments, somatic hypermutation of immunoglobulin genes, response to UV-B, response to X-ray, male gonad development, determination of adult lifespan, germ cell development, cell cycle arrest, DNA recombination, double-strand break repair, postreplication repair, postreplication repair, mismatch repair, mismatch repair, mismatch repair, mismatch repair, DNA repair, oxidative phosphorylation, somatic recombination of immunoglobulin genes involved in immune response, in utero embryonic development, 45 30 39 80 39 92 79 22 63 ENSG00000095015 chr5 56815574 56896152 + MAP3K1 protein_coding The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]. 4214 GO:0005829, cytosol, GO:0019901, GO:0008270, GO:0005524, GO:0005515, GO:0004709, GO:0004674, GO:0004672, GO:0004672, protein kinase binding, zinc ion binding, ATP binding, protein binding, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, GO:0071260, GO:0038095, GO:0006468, GO:0002755, GO:0000186, GO:0000165, cellular response to mechanical stimulus, Fc-epsilon receptor signaling pathway, protein phosphorylation, MyD88-dependent toll-like receptor signaling pathway, activation of MAPKK activity, MAPK cascade, 1520 2043 1392 1156 1881 1514 1172 1388 1258 ENSG00000095059 chr19 12675717 12681902 - DHPS protein_coding This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]. 1725 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0042802, GO:0034038, GO:0034038, GO:0005515, identical protein binding, deoxyhypusine synthase activity, deoxyhypusine synthase activity, protein binding, GO:0046203, GO:0042593, GO:0042102, GO:0008612, GO:0008612, GO:0008612, GO:0008284, GO:0008216, GO:0006412, spermidine catabolic process, glucose homeostasis, positive regulation of T cell proliferation, peptidyl-lysine modification to peptidyl-hypusine, peptidyl-lysine modification to peptidyl-hypusine, peptidyl-lysine modification to peptidyl-hypusine, positive regulation of cell population proliferation, spermidine metabolic process, translation, 22 43 31 34 45 19 17 20 24 ENSG00000095066 chr19 12763003 12872740 - HOOK2 protein_coding Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]. 29911 GO:0070695, GO:0043231, GO:0030897, GO:0005874, GO:0005829, GO:0005813, GO:0005813, GO:0005737, FHF complex, intracellular membrane-bounded organelle, HOPS complex, microtubule, cytosol, centrosome, centrosome, cytoplasm, GO:0051959, GO:0042802, GO:0008017, GO:0005515, dynein light intermediate chain binding, identical protein binding, microtubule binding, protein binding, GO:0045022, GO:0031122, GO:0030705, GO:0015031, GO:0008333, GO:0007040, GO:0007032, GO:0006897, early endosome to late endosome transport, cytoplasmic microtubule organization, cytoskeleton-dependent intracellular transport, protein transport, endosome to lysosome transport, lysosome organization, endosome organization, endocytosis, 1642 2165 3295 13454 28043 29770 20556 32313 32201 ENSG00000095110 chr11 114521645 114559895 - NXPE1 protein_coding 120400 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000095139 chr11 118572390 118603033 + ARCN1 protein_coding This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]. 372 GO:0030133, GO:0030126, GO:0030126, GO:0016020, GO:0005829, GO:0005829, GO:0005789, GO:0000139, transport vesicle, COPI vesicle coat, COPI vesicle coat, membrane, cytosol, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0051645, GO:0043473, GO:0021691, GO:0008344, GO:0006890, GO:0006890, GO:0006888, GO:0006888, GO:0006886, Golgi localization, pigmentation, cerebellar Purkinje cell layer maturation, adult locomotory behavior, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 1010 904 1379 538 578 517 527 537 401 ENSG00000095203 chr9 109171975 109320964 - EPB41L4B protein_coding 54566 GO:0045177, GO:0005923, GO:0005886, GO:0005856, GO:0005829, GO:0005737, apical part of cell, bicellular tight junction, plasma membrane, cytoskeleton, cytosol, cytoplasm, GO:0008092, GO:0005200, cytoskeletal protein binding, structural constituent of cytoskeleton, GO:0051549, GO:0045785, GO:0042060, GO:0031032, GO:0031032, GO:0010837, GO:0010628, positive regulation of keratinocyte migration, positive regulation of cell adhesion, wound healing, actomyosin structure organization, actomyosin structure organization, regulation of keratinocyte proliferation, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000095209 chr9 105694544 105776612 + TMEM38B protein_coding This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]. 55151 GO:0033017, GO:0031965, GO:0016021, GO:0005634, sarcoplasmic reticulum membrane, nuclear membrane, integral component of membrane, nucleus, GO:0005515, GO:0005267, protein binding, potassium channel activity, GO:0071805, GO:0071313, GO:0070278, GO:0061033, GO:0060487, GO:0060348, GO:0048286, GO:0030282, GO:0014808, GO:0010881, GO:0008654, GO:0007029, potassium ion transmembrane transport, cellular response to caffeine, extracellular matrix constituent secretion, secretion by lung epithelial cell involved in lung growth, lung epithelial cell differentiation, bone development, lung alveolus development, bone mineralization, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, phospholipid biosynthetic process, endoplasmic reticulum organization, 7 9 15 30 9 17 15 19 32 ENSG00000095261 chr9 120815496 120842984 - PSMD5 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]. 5711 GO:0022624, GO:0008540, GO:0005829, GO:0005654, GO:0000502, proteasome accessory complex, proteasome regulatory particle, base subcomplex, cytosol, nucleoplasm, proteasome complex, GO:0005515, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070682, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, proteasome regulatory particle assembly, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 142 120 146 102 92 107 106 74 76 ENSG00000095303 chr9 122370530 122395703 + PTGS1 protein_coding This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 5742 GO:0070062, GO:0043231, GO:0005794, GO:0005789, GO:0005737, GO:0005737, GO:0001750, extracellular exosome, intracellular membrane-bounded organelle, Golgi apparatus, endoplasmic reticulum membrane, cytoplasm, cytoplasm, photoreceptor outer segment, GO:0051213, GO:0046872, GO:0020037, GO:0005515, GO:0004666, GO:0004601, dioxygenase activity, metal ion binding, heme binding, protein binding, prostaglandin-endoperoxide synthase activity, peroxidase activity, GO:0098869, GO:0055114, GO:0042127, GO:0019371, GO:0019371, GO:0008217, GO:0006979, GO:0006954, GO:0006805, GO:0001516, cellular oxidant detoxification, oxidation-reduction process, regulation of cell population proliferation, cyclooxygenase pathway, cyclooxygenase pathway, regulation of blood pressure, response to oxidative stress, inflammatory response, xenobiotic metabolic process, prostaglandin biosynthetic process, 115 117 158 88 88 95 87 43 64 ENSG00000095319 chr9 128947699 129007096 + NUP188 protein_coding The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]. 23511 GO:0044611, GO:0043657, GO:0016020, GO:0005635, nuclear pore inner ring, host cell, membrane, nuclear envelope, GO:0017056, structural constituent of nuclear pore, GO:1900034, GO:0075733, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006606, GO:0006606, GO:0006409, GO:0006406, GO:0006405, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, protein import into nucleus, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, regulation of glycolytic process, 55 46 120 123 55 148 126 48 89 ENSG00000095321 chr9 129094810 129111189 - CRAT protein_coding This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]. 1384 GO:0005829, GO:0005783, GO:0005782, GO:0005777, GO:0005777, GO:0005743, GO:0005739, GO:0005739, cytosol, endoplasmic reticulum, peroxisomal matrix, peroxisome, peroxisome, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0008458, GO:0004092, GO:0004092, GO:0004092, GO:0003997, carnitine O-octanoyltransferase activity, carnitine O-acetyltransferase activity, carnitine O-acetyltransferase activity, carnitine O-acetyltransferase activity, acyl-CoA oxidase activity, GO:0051791, GO:0046459, GO:0033540, GO:0033540, GO:0019254, GO:0019254, GO:0006625, medium-chain fatty acid metabolic process, short-chain fatty acid metabolic process, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, carnitine metabolic process, CoA-linked, carnitine metabolic process, CoA-linked, protein targeting to peroxisome, 27 17 22 31 14 30 26 16 16 ENSG00000095370 chr9 127738317 127778741 - SH2D3C protein_coding This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 10044 GO:0032587, GO:0030424, GO:0005737, ruffle membrane, axon, cytoplasm, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0033138, GO:0007264, GO:0007254, positive regulation of peptidyl-serine phosphorylation, small GTPase mediated signal transduction, JNK cascade, 3331 2811 4386 1392 1970 1974 1596 1442 1571 ENSG00000095380 chr9 98056739 98083075 + NANS protein_coding This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]. 54187 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0050462, GO:0047444, GO:0047444, GO:0008781, N-acetylneuraminate synthase activity, N-acylneuraminate-9-phosphate synthase activity, N-acylneuraminate-9-phosphate synthase activity, N-acylneuraminate cytidylyltransferase activity, GO:0070085, GO:0016051, GO:0006055, glycosylation, carbohydrate biosynthetic process, CMP-N-acetylneuraminate biosynthetic process, 144 152 137 138 188 127 134 142 135 ENSG00000095383 chr9 98198999 98255721 - TBC1D2 protein_coding 55357 GO:0031410, GO:0030054, GO:0005829, GO:0005654, cytoplasmic vesicle, cell junction, cytosol, nucleoplasm, GO:0045296, GO:0031267, GO:0005515, GO:0005096, GO:0005096, cadherin binding, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902017, GO:0090630, GO:0043547, GO:0006886, regulation of cilium assembly, activation of GTPase activity, positive regulation of GTPase activity, intracellular protein transport, 188 237 306 127 218 194 191 202 174 ENSG00000095397 chr9 114402080 114505450 - WHRN protein_coding This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 25861 GO:1990696, GO:1990075, GO:0045202, GO:0043025, GO:0036064, GO:0032426, GO:0032426, GO:0032420, GO:0032391, GO:0032391, GO:0030426, GO:0005886, GO:0005884, GO:0005737, GO:0002142, GO:0002142, GO:0002141, GO:0001917, GO:0001917, USH2 complex, periciliary membrane compartment, synapse, neuronal cell body, ciliary basal body, stereocilium tip, stereocilium tip, stereocilium, photoreceptor connecting cilium, photoreceptor connecting cilium, growth cone, plasma membrane, actin filament, cytoplasm, stereocilia ankle link complex, stereocilia ankle link complex, stereocilia ankle link, photoreceptor inner segment, photoreceptor inner segment, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1990227, GO:0060122, GO:0060088, GO:0050953, GO:0050910, GO:0045184, GO:0021694, GO:0010628, GO:0007605, GO:0007605, GO:0001895, GO:0001895, paranodal junction maintenance, inner ear receptor cell stereocilium organization, auditory receptor cell stereocilium organization, sensory perception of light stimulus, detection of mechanical stimulus involved in sensory perception of sound, establishment of protein localization, cerebellar Purkinje cell layer formation, positive regulation of gene expression, sensory perception of sound, sensory perception of sound, retina homeostasis, retina homeostasis, 104 95 77 137 100 113 107 97 59 ENSG00000095464 chr10 93612588 93666010 + PDE6C protein_coding This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]. 5146 GO:0005886, plasma membrane, GO:0047555, GO:0046872, GO:0030553, GO:0004114, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, cGMP binding, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0046549, GO:0007603, GO:0007601, GO:0007165, retinal cone cell development, phototransduction, visible light, visual perception, signal transduction, 0 1 1 1 0 0 0 0 0 ENSG00000095485 chr10 100232298 100267680 - CWF19L1 protein_coding This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 55280 GO:0071014, GO:0005575, post-mRNA release spliceosomal complex, cellular_component, GO:0061632, GO:0005515, GO:0003674, RNA lariat debranching enzyme activator activity, protein binding, molecular_function, GO:0043085, GO:0008150, GO:0000398, positive regulation of catalytic activity, biological_process, mRNA splicing, via spliceosome, 410 339 483 283 360 383 340 183 302 ENSG00000095539 chr10 100969518 100985871 + SEMA4G protein_coding Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 57715 GO:0005887, GO:0005615, integral component of plasma membrane, extracellular space, GO:0045499, GO:0030215, GO:0005515, chemorepellent activity, semaphorin receptor binding, protein binding, GO:0071526, GO:0050919, GO:0048843, GO:0030335, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, axon guidance, neural crest cell migration, 7 8 7 13 6 3 14 6 17 ENSG00000095564 chr10 91923769 92030325 + BTAF1 protein_coding This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]. 9044 GO:0043231, GO:0005654, intracellular membrane-bounded organelle, nucleoplasm, GO:0008094, GO:0005524, GO:0004386, GO:0003712, GO:0003677, DNA-dependent ATPase activity, ATP binding, helicase activity, transcription coregulator activity, DNA binding, GO:0045892, GO:0035562, negative regulation of transcription, DNA-templated, negative regulation of chromatin binding, 867 734 1239 1149 836 1018 1078 688 812 ENSG00000095574 chr10 122990806 123008817 - IKZF5 protein_coding Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]. 64376 GO:0032991, GO:0000785, protein-containing complex, chromatin, GO:0019904, GO:0008270, GO:0005515, GO:0003700, GO:0001227, GO:0000978, GO:0000977, protein domain specific binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 836 869 1026 573 787 887 713 603 764 ENSG00000095585 chr10 96191702 96271587 - BLNK protein_coding This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]. 29760 GO:0036464, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, cytoplasmic ribonucleoprotein granule, membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, GO:1990782, GO:0042169, GO:0035591, GO:0019899, GO:0005515, GO:0005068, protein tyrosine kinase binding, SH2 domain binding, signaling adaptor activity, enzyme binding, protein binding, transmembrane receptor protein tyrosine kinase adaptor activity, GO:0050853, GO:0035556, GO:0035556, GO:0030183, GO:0007169, GO:0006959, GO:0006954, B cell receptor signaling pathway, intracellular signal transduction, intracellular signal transduction, B cell differentiation, transmembrane receptor protein tyrosine kinase signaling pathway, humoral immune response, inflammatory response, 1 4 2 20 11 4 8 7 13 ENSG00000095587 chr10 96364606 96513918 - TLL2 protein_coding This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]. 7093 GO:0005576, extracellular region, GO:0008270, GO:0005509, GO:0004222, zinc ion binding, calcium ion binding, metalloendopeptidase activity, GO:0048632, GO:0030154, GO:0022617, GO:0007275, GO:0006508, negative regulation of skeletal muscle tissue growth, cell differentiation, extracellular matrix disassembly, multicellular organism development, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000095596 chr10 93073475 93077890 + CYP26A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]. 1592 GO:0005789, endoplasmic reticulum membrane, GO:0062183, GO:0020037, GO:0019825, GO:0016709, GO:0016491, GO:0008401, GO:0005506, GO:0004497, GO:0001972, all-trans retinoic acid 18-hydroxylase activity, heme binding, oxygen binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, retinoic acid 4-hydroxylase activity, iron ion binding, monooxygenase activity, retinoic acid binding, GO:0055114, GO:0048387, GO:0042573, GO:0034653, GO:0033189, GO:0032526, GO:0016125, GO:0006805, GO:0006766, GO:0001822, oxidation-reduction process, negative regulation of retinoic acid receptor signaling pathway, retinoic acid metabolic process, retinoic acid catabolic process, response to vitamin A, response to retinoic acid, sterol metabolic process, xenobiotic metabolic process, vitamin metabolic process, kidney development, 1 1 0 3 1 0 1 0 0 ENSG00000095627 chr10 114179270 114232304 + TDRD1 protein_coding This gene encodes a protein containing a tudor domain that is thought to function in the suppression of transposable elements during spermatogenesis. The related protein in mouse forms a complex with piRNAs and Piwi proteins to promote methylation and silencing of target sequences. This gene was observed to be upregulated by ETS transcription factor ERG in prostate tumors. [provided by RefSeq, Sep 2018]. 56165 GO:1990904, GO:0071546, GO:0043186, GO:0033391, GO:0005737, ribonucleoprotein complex, pi-body, P granule, chromatoid body, cytoplasm, GO:0046872, metal ion binding, GO:0051321, GO:0043046, GO:0034587, GO:0031047, GO:0007283, GO:0007281, GO:0007275, meiotic cell cycle, DNA methylation involved in gamete generation, piRNA metabolic process, gene silencing by RNA, spermatogenesis, germ cell development, multicellular organism development, 0 0 0 0 0 0 0 0 1 ENSG00000095637 chr10 95311771 95561414 - SORBS1 protein_coding This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 10580 GO:0045121, GO:0030055, GO:0016363, GO:0005925, GO:0005915, GO:0005912, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005634, GO:0001725, membrane raft, cell-substrate junction, nuclear matrix, focal adhesion, zonula adherens, adherens junction, plasma membrane, cytosol, cytosol, centrosome, nucleus, stress fiber, GO:0030159, GO:0030159, GO:0008092, GO:0005515, GO:0005158, GO:0003779, signaling receptor complex adaptor activity, signaling receptor complex adaptor activity, cytoskeletal protein binding, protein binding, insulin receptor binding, actin binding, GO:1903078, GO:0048041, GO:0046889, GO:0046628, GO:0046326, GO:0045725, GO:0043149, GO:0032869, GO:0008286, GO:0007160, GO:0006936, positive regulation of protein localization to plasma membrane, focal adhesion assembly, positive regulation of lipid biosynthetic process, positive regulation of insulin receptor signaling pathway, positive regulation of glucose import, positive regulation of glycogen biosynthetic process, stress fiber assembly, cellular response to insulin stimulus, insulin receptor signaling pathway, cell-matrix adhesion, muscle contraction, 2 11 7 6 1 1 4 0 4 ENSG00000095713 chr10 97865000 98030828 - CRTAC1 protein_coding This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 55118 GO:0070062, GO:0030426, extracellular exosome, growth cone, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:1900121, GO:0021772, GO:0007413, negative regulation of receptor binding, olfactory bulb development, axonal fasciculation, 0 0 1 6 2 5 0 0 0 ENSG00000095739 chr10 28677342 28682939 + BAMBI protein_coding This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]. 25805 GO:0016021, GO:0005886, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, GO:0005515, GO:0005114, GO:0005109, GO:0005109, protein binding, type II transforming growth factor beta receptor binding, frizzled binding, frizzled binding, GO:0090263, GO:0090263, GO:0045893, GO:0045668, GO:0032092, GO:0030514, GO:0030512, GO:0030512, GO:0030512, GO:0016477, GO:0010718, GO:0008360, GO:0008284, GO:0007179, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, positive regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, positive regulation of protein binding, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, cell migration, positive regulation of epithelial to mesenchymal transition, regulation of cell shape, positive regulation of cell population proliferation, transforming growth factor beta receptor signaling pathway, 3 6 7 11 23 17 2 12 18 ENSG00000095752 chr19 55364389 55370463 - IL11 protein_coding The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2012]. 3589 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0008083, GO:0005515, GO:0005142, GO:0005125, growth factor activity, growth factor activity, protein binding, interleukin-11 receptor binding, cytokine activity, GO:2000352, GO:1903659, GO:0050731, GO:0046888, GO:0045944, GO:0045444, GO:0043410, GO:0043410, GO:0033138, GO:0030219, GO:0030183, GO:0019221, GO:0008284, GO:0008284, negative regulation of endothelial cell apoptotic process, regulation of complement-dependent cytotoxicity, positive regulation of peptidyl-tyrosine phosphorylation, negative regulation of hormone secretion, positive regulation of transcription by RNA polymerase II, fat cell differentiation, positive regulation of MAPK cascade, positive regulation of MAPK cascade, positive regulation of peptidyl-serine phosphorylation, megakaryocyte differentiation, B cell differentiation, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, 0 0 0 0 0 0 4 0 0 ENSG00000095777 chr10 25934071 26212536 + MYO3A protein_coding The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]. 53904 GO:0032433, GO:0032426, GO:0031941, GO:0030175, GO:0016459, GO:0005737, filopodium tip, stereocilium tip, filamentous actin, filopodium, myosin complex, cytoplasm, GO:0106311, GO:0106310, GO:0060002, GO:0043531, GO:0030898, GO:0005524, GO:0005516, GO:0005515, GO:0004672, GO:0003779, GO:0000146, GO:0000146, protein threonine kinase activity, protein serine kinase activity, plus-end directed microfilament motor activity, ADP binding, actin-dependent ATPase activity, ATP binding, calmodulin binding, protein binding, protein kinase activity, actin binding, microfilament motor activity, microfilament motor activity, GO:0090103, GO:0050896, GO:0046777, GO:0007605, GO:0007605, GO:0007601, cochlea morphogenesis, response to stimulus, protein autophosphorylation, sensory perception of sound, sensory perception of sound, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000095787 chr10 28532493 28623112 + WAC protein_coding The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. 51322 GO:0016607, GO:0005681, GO:0005654, GO:0005654, GO:0005634, nuclear speck, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003682, GO:0000993, protein binding, chromatin binding, RNA polymerase II complex binding, GO:0071894, GO:0045893, GO:0044783, GO:0032435, GO:0016567, GO:0016239, GO:0010390, GO:0006974, histone H2B conserved C-terminal lysine ubiquitination, positive regulation of transcription, DNA-templated, G1 DNA damage checkpoint, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, positive regulation of macroautophagy, histone monoubiquitination, cellular response to DNA damage stimulus, 3523 3709 4595 1698 2540 2603 1909 2192 2262 ENSG00000095794 chr10 35126791 35212958 + CREM protein_coding This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]. 1390 GO:1990589, GO:0005737, GO:0005667, GO:0005634, GO:0000785, GO:0000785, ATF4-CREB1 transcription factor complex, cytoplasm, transcription regulator complex, nucleus, chromatin, chromatin, GO:1990837, GO:0008140, GO:0005515, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, cAMP response element binding protein binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048511, GO:0048384, GO:0045944, GO:0042752, GO:0030154, GO:0007283, GO:0007275, GO:0007165, GO:0006687, GO:0006631, GO:0006357, GO:0006355, GO:0006355, GO:0006006, GO:0000122, rhythmic process, retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, regulation of circadian rhythm, cell differentiation, spermatogenesis, multicellular organism development, signal transduction, glycosphingolipid metabolic process, fatty acid metabolic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, glucose metabolic process, negative regulation of transcription by RNA polymerase II, 486 487 754 865 722 909 741 478 545 ENSG00000095906 chr16 1782901 1789191 + NUBP2 protein_coding This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]. 10101 GO:0031616, GO:0005929, GO:0005829, GO:0005814, GO:0005634, spindle pole centrosome, cilium, cytosol, centriole, nucleus, GO:0051539, GO:0051536, GO:0046872, GO:0005524, GO:0005515, GO:0000166, 4 iron, 4 sulfur cluster binding, iron-sulfur cluster binding, metal ion binding, ATP binding, protein binding, nucleotide binding, GO:0030030, GO:0016226, cell projection organization, iron-sulfur cluster assembly, 96 76 97 86 92 97 86 76 84 ENSG00000095917 chr16 1256059 1258998 + TPSD1 protein_coding Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008]. 23430 GO:0005615, extracellular space, GO:0008236, GO:0004252, serine-type peptidase activity, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000095932 chr19 3473986 3480542 - SMIM24 protein_coding 284422 GO:0016021, integral component of membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 1 0 1 0 1 0 0 0 0 ENSG00000095951 chr6 12008762 12164999 + HIVEP1 protein_coding This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]. 3096 GO:0016604, GO:0005739, GO:0005654, GO:0005634, GO:0005634, nuclear body, mitochondrion, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030509, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, BMP signaling pathway, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 883 747 1327 594 663 914 627 555 638 ENSG00000095970 chr6 41158506 41163186 - TREM2 protein_coding This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]. 54209 GO:0044853, GO:0031226, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005576, plasma membrane raft, intrinsic component of plasma membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:1990782, GO:0097110, GO:0071813, GO:0044877, GO:0038023, GO:0034189, GO:0034186, GO:0034185, GO:0030169, GO:0008289, GO:0008035, GO:0005543, GO:0005515, GO:0004888, GO:0001540, protein tyrosine kinase binding, scaffold protein binding, lipoprotein particle binding, protein-containing complex binding, signaling receptor activity, very-low-density lipoprotein particle binding, apolipoprotein A-I binding, apolipoprotein binding, low-density lipoprotein particle binding, lipid binding, high-density lipoprotein particle binding, phospholipid binding, protein binding, transmembrane signaling receptor activity, amyloid-beta binding, GO:2001171, GO:2000350, GO:1905291, GO:1904646, GO:1904141, GO:1904093, GO:1903980, GO:1903980, GO:1903082, GO:1903078, GO:1902531, GO:1901980, GO:1901800, GO:1901076, GO:1900223, GO:0120035, GO:0120035, GO:0120035, GO:0098657, GO:0097028, GO:0071640, GO:0070374, GO:0070374, GO:0070374, GO:0060100, GO:0060100, GO:0060075, GO:0050921, GO:0050850, GO:0050850, GO:0050776, GO:0050731, GO:0050730, GO:0050730, GO:0050714, GO:0048143, GO:0045087, GO:0043277, GO:0034241, GO:0032675, GO:0032008, GO:0032006, GO:0030316, GO:0010822, GO:0010628, GO:0010507, GO:0010468, GO:0006959, GO:0002588, GO:0001934, GO:0001774, positive regulation of ATP biosynthetic process, positive regulation of CD40 signaling pathway, positive regulation of CAMKK-AMPK signaling cascade, cellular response to amyloid-beta, positive regulation of microglial cell migration, negative regulation of autophagic cell death, positive regulation of microglial cell activation, positive regulation of microglial cell activation, positive regulation of C-C chemokine receptor CCR7 signaling pathway, positive regulation of protein localization to plasma membrane, regulation of intracellular signal transduction, positive regulation of inward rectifier potassium channel activity, positive regulation of proteasomal protein catabolic process, positive regulation of engulfment of apoptotic cell, positive regulation of amyloid-beta clearance, regulation of plasma membrane bounded cell projection organization, regulation of plasma membrane bounded cell projection organization, regulation of plasma membrane bounded cell projection organization, import into cell, dendritic cell differentiation, regulation of macrophage inflammatory protein 1 alpha production, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of phagocytosis, engulfment, positive regulation of phagocytosis, engulfment, regulation of resting membrane potential, positive regulation of chemotaxis, positive regulation of calcium-mediated signaling, positive regulation of calcium-mediated signaling, regulation of immune response, positive regulation of peptidyl-tyrosine phosphorylation, regulation of peptidyl-tyrosine phosphorylation, regulation of peptidyl-tyrosine phosphorylation, positive regulation of protein secretion, astrocyte activation, innate immune response, apoptotic cell clearance, positive regulation of macrophage fusion, regulation of interleukin-6 production, positive regulation of TOR signaling, regulation of TOR signaling, osteoclast differentiation, positive regulation of mitochondrion organization, positive regulation of gene expression, negative regulation of autophagy, regulation of gene expression, humoral immune response, positive regulation of antigen processing and presentation of peptide antigen via MHC class II, positive regulation of protein phosphorylation, microglial cell activation, 0 4 5 3 4 4 7 0 3 ENSG00000095981 chr6 39314698 39322968 - KCNK16 protein_coding The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]. 83795 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0022841, GO:0005515, GO:0005267, GO:0005244, potassium ion leak channel activity, protein binding, potassium channel activity, voltage-gated ion channel activity, GO:0071805, GO:0034765, GO:0030322, GO:0006813, potassium ion transmembrane transport, regulation of ion transmembrane transport, stabilization of membrane potential, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000096006 chr6 49727384 49744437 - CRISP3 protein_coding This gene encodes a member of the cysteine-rich secretory protein (CRISP) family within the CRISP, antigen 5 and pathogenesis-related 1 proteins superfamily. The encoded protein has an N-terminal CRISP, antigen 5 and pathogenesis-related 1 proteins domain, a hinge region, and a C-terminal ion channel regulator domain. This protein contains cysteine residues, located in both the N- and C-terminal domains, that form eight disulfide bonds, a distinguishing characteristic of this family. This gene is expressed in the male reproductive tract where it plays a role in sperm function and fertilization, and the female reproductive tract where it plays a role in endometrial receptivity for embryo implantation. This gene is upregulated in certain types of prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 10321 GO:1904724, GO:0042581, GO:0035580, GO:0031012, GO:0005615, GO:0005615, GO:0005576, GO:0005576, tertiary granule lumen, specific granule, specific granule lumen, extracellular matrix, extracellular space, extracellular space, extracellular region, extracellular region, GO:0003674, molecular_function, GO:0045087, GO:0043312, GO:0006952, innate immune response, neutrophil degranulation, defense response, 9 19 24 5 4 14 0 23 15 ENSG00000096060 chr6 35573585 35728583 - FKBP5 protein_coding The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]. 2289 GO:0070062, GO:0016020, GO:0005829, GO:0005737, GO:0005654, extracellular exosome, membrane, cytosol, cytoplasm, nucleoplasm, GO:0031072, GO:0005528, GO:0005515, GO:0003755, GO:0003755, heat shock protein binding, FK506 binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:0061077, GO:0061077, GO:0009617, GO:0006457, GO:0000413, chaperone-mediated protein folding, chaperone-mediated protein folding, response to bacterium, protein folding, protein peptidyl-prolyl isomerization, 438 426 744 504 490 636 489 374 497 ENSG00000096063 chr6 35832966 35921342 - SRPK1 protein_coding This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]. 6732 GO:0016607, GO:0016363, GO:0005886, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear speck, nuclear matrix, plasma membrane, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004707, GO:0004674, GO:0004672, GO:0003723, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, MAP kinase activity, protein serine/threonine kinase activity, protein kinase activity, RNA binding, magnesium ion binding, GO:0050684, GO:0050684, GO:0048024, GO:0045087, GO:0045071, GO:0045070, GO:0035556, GO:0035556, GO:0035092, GO:0016032, GO:0010468, GO:0008380, GO:0007059, GO:0006468, GO:0000245, GO:0000165, regulation of mRNA processing, regulation of mRNA processing, regulation of mRNA splicing, via spliceosome, innate immune response, negative regulation of viral genome replication, positive regulation of viral genome replication, intracellular signal transduction, intracellular signal transduction, sperm chromatin condensation, viral process, regulation of gene expression, RNA splicing, chromosome segregation, protein phosphorylation, spliceosomal complex assembly, MAPK cascade, 1689 1359 2959 993 1284 1710 1264 923 1432 ENSG00000096070 chr6 36196744 36232790 + BRPF3 protein_coding 27154 GO:0070776, GO:0070776, GO:0005829, GO:0005576, GO:0000123, MOZ/MORF histone acetyltransferase complex, MOZ/MORF histone acetyltransferase complex, cytosol, extracellular region, histone acetyltransferase complex, GO:0046872, GO:0043994, GO:0042393, GO:0005515, metal ion binding, histone acetyltransferase activity (H3-K23 specific), histone binding, protein binding, GO:0045740, GO:0044154, GO:0044154, GO:0043972, GO:0043966, GO:0002576, positive regulation of DNA replication, histone H3-K14 acetylation, histone H3-K14 acetylation, histone H3-K23 acetylation, histone H3 acetylation, platelet degranulation, 1097 908 1641 364 496 516 417 452 371 ENSG00000096080 chr6 43671303 43687791 - MRPS18A protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]. 55168 GO:0005763, GO:0005763, GO:0005762, GO:0005743, GO:0005739, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0070181, GO:0003735, GO:0003735, GO:0003735, small ribosomal subunit rRNA binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 30 21 49 25 23 35 33 45 7 ENSG00000096088 chr6 41736711 41754109 - PGC protein_coding This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]. 5225 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0004190, aspartic-type endopeptidase activity, GO:0007586, GO:0006508, GO:0002803, digestion, proteolysis, positive regulation of antibacterial peptide production, 0 0 0 0 4 0 0 0 0 ENSG00000096092 chr6 52671109 52686588 + TMEM14A protein_coding 28978 GO:0031966, GO:0031966, GO:0016021, GO:0005789, GO:0005789, mitochondrial membrane, mitochondrial membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:1901029, GO:1901029, GO:0043066, GO:0006915, GO:0006839, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, negative regulation of apoptotic process, apoptotic process, mitochondrial transport, 2 2 5 9 2 17 0 10 2 ENSG00000096093 chr6 52362123 52529886 + EFHC1 protein_coding This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. 114327 GO:0072686, GO:0072686, GO:0043025, GO:0005930, GO:0005930, GO:0005813, GO:0000922, mitotic spindle, mitotic spindle, neuronal cell body, axoneme, axoneme, centrosome, spindle pole, GO:0043014, GO:0043014, GO:0008022, GO:0005515, GO:0005509, alpha-tubulin binding, alpha-tubulin binding, protein C-terminus binding, protein binding, calcium ion binding, GO:0060285, GO:0051302, GO:0021795, GO:0007052, GO:0007052, GO:0000281, GO:0000281, cilium-dependent cell motility, regulation of cell division, cerebral cortex cell migration, mitotic spindle organization, mitotic spindle organization, mitotic cytokinesis, mitotic cytokinesis, 260 264 192 209 329 218 259 235 230 ENSG00000096264 chr6 41335655 41350887 + NCR2 protein_coding 9436 GO:0009986, GO:0005887, GO:0005886, cell surface, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0004888, signaling receptor activity, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0045087, GO:0007165, GO:0006968, regulation of immune response, innate immune response, signal transduction, cellular defense response, 0 0 0 0 0 0 0 0 0 ENSG00000096384 chr6 44246166 44253888 + HSP90AB1 protein_coding This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012]. 3326 GO:1990917, GO:1990913, GO:1990565, GO:1904813, GO:0070062, GO:0048471, GO:0048471, GO:0044295, GO:0044294, GO:0043025, GO:0042470, GO:0034774, GO:0034751, GO:0032991, GO:0032991, GO:0032991, GO:0031526, GO:0016324, GO:0016323, GO:0016234, GO:0016020, GO:0009986, GO:0008180, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005765, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005576, GO:0005576, ooplasm, sperm head plasma membrane, HSP90-CDC37 chaperone complex, ficolin-1-rich granule lumen, extracellular exosome, perinuclear region of cytoplasm, perinuclear region of cytoplasm, axonal growth cone, dendritic growth cone, neuronal cell body, melanosome, secretory granule lumen, aryl hydrocarbon receptor complex, protein-containing complex, protein-containing complex, protein-containing complex, brush border membrane, apical plasma membrane, basolateral plasma membrane, inclusion body, membrane, cell surface, COP9 signalosome, plasma membrane, cytosol, cytosol, cytosol, lysosomal membrane, mitochondrion, cytoplasm, nucleoplasm, nucleus, extracellular region, extracellular region, GO:1990226, GO:0097718, GO:0097718, GO:0070182, GO:0051082, GO:0048156, GO:0046983, GO:0045296, GO:0044325, GO:0044183, GO:0043008, GO:0042826, GO:0042803, GO:0042802, GO:0042277, GO:0032564, GO:0031625, GO:0031072, GO:0030911, GO:0030235, GO:0023026, GO:0019901, GO:0019900, GO:0019887, GO:0017098, GO:0008144, GO:0005525, GO:0005524, GO:0005524, GO:0005524, GO:0005515, GO:0003725, GO:0003723, GO:0002135, GO:0002134, histone methyltransferase binding, disordered domain specific binding, disordered domain specific binding, DNA polymerase binding, unfolded protein binding, tau protein binding, protein dimerization activity, cadherin binding, ion channel binding, protein folding chaperone, ATP-dependent protein binding, histone deacetylase binding, protein homodimerization activity, identical protein binding, peptide binding, dATP binding, ubiquitin protein ligase binding, heat shock protein binding, TPR domain binding, nitric-oxide synthase regulator activity, MHC class II protein complex binding, protein kinase binding, kinase binding, protein kinase regulator activity, sulfonylurea receptor binding, drug binding, GTP binding, ATP binding, ATP binding, ATP binding, protein binding, double-stranded RNA binding, RNA binding, CTP binding, UTP binding, GO:2000010, GO:1905323, GO:1904031, GO:1903827, GO:1903660, GO:1902949, GO:1901799, GO:1901389, GO:1900034, GO:0097435, GO:0071902, GO:0071407, GO:0071353, GO:0071157, GO:0060338, GO:0060334, GO:0051973, GO:0051897, GO:0051248, GO:0051131, GO:0050821, GO:0050821, GO:0048675, GO:0045793, GO:0045597, GO:0045429, GO:0043524, GO:0043312, GO:0042307, GO:0042220, GO:0038096, GO:0035690, GO:0034605, GO:0033138, GO:0032516, GO:0032435, GO:0032435, GO:0032092, GO:0031396, GO:0030511, GO:0030010, GO:0021955, GO:0019062, GO:0009651, GO:0007004, GO:0006986, GO:0006805, GO:0006457, GO:0001890, positive regulation of protein localization to cell surface, telomerase holoenzyme complex assembly, positive regulation of cyclin-dependent protein kinase activity, regulation of cellular protein localization, negative regulation of complement-dependent cytotoxicity, positive regulation of tau-protein kinase activity, negative regulation of proteasomal protein catabolic process, negative regulation of transforming growth factor beta activation, regulation of cellular response to heat, supramolecular fiber organization, positive regulation of protein serine/threonine kinase activity, cellular response to organic cyclic compound, cellular response to interleukin-4, negative regulation of cell cycle arrest, regulation of type I interferon-mediated signaling pathway, regulation of interferon-gamma-mediated signaling pathway, positive regulation of telomerase activity, positive regulation of protein kinase B signaling, negative regulation of protein metabolic process, chaperone-mediated protein complex assembly, protein stabilization, protein stabilization, axon extension, positive regulation of cell size, positive regulation of cell differentiation, positive regulation of nitric oxide biosynthetic process, negative regulation of neuron apoptotic process, neutrophil degranulation, positive regulation of protein import into nucleus, response to cocaine, Fc-gamma receptor signaling pathway involved in phagocytosis, cellular response to drug, cellular response to heat, positive regulation of peptidyl-serine phosphorylation, positive regulation of phosphoprotein phosphatase activity, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, regulation of protein ubiquitination, positive regulation of transforming growth factor beta receptor signaling pathway, establishment of cell polarity, central nervous system neuron axonogenesis, virion attachment to host cell, response to salt stress, telomere maintenance via telomerase, response to unfolded protein, xenobiotic metabolic process, protein folding, placenta development, 1128 1310 3304 15711 26686 12093 8549 8184 7819 ENSG00000096395 chr6 33794673 33804011 - MLN protein_coding This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produces the mature peptide and a byproduct referred to as motilin-associated peptide (MAP). Three transcript variants encoding different preproprotein isoforms but the same mature peptide have been found for this gene. [provided by RefSeq, May 2010]. 4295 GO:0005576, extracellular region, GO:0031788, GO:0031788, GO:0005515, GO:0005179, motilin receptor binding, motilin receptor binding, protein binding, hormone activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 1 0 0 0 0 0 0 0 ENSG00000096401 chr6 44387525 44450426 + CDC5L protein_coding The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]. 988 GO:0071013, GO:0071007, GO:0048471, GO:0016607, GO:0016020, GO:0005737, GO:0005681, GO:0005662, GO:0005654, GO:0005654, GO:0005634, GO:0000974, GO:0000974, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, perinuclear region of cytoplasm, nuclear speck, membrane, cytoplasm, spliceosomal complex, DNA replication factor A complex, nucleoplasm, nucleoplasm, nucleus, Prp19 complex, Prp19 complex, GO:0071987, GO:0043522, GO:0019901, GO:0008157, GO:0005515, GO:0003723, GO:0003677, GO:0001228, GO:0001222, GO:0000981, GO:0000977, GO:0000977, WD40-repeat domain binding, leucine zipper domain binding, protein kinase binding, protein phosphatase 1 binding, protein binding, RNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, transcription corepressor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1990646, GO:1990090, GO:1904568, GO:0072422, GO:0071352, GO:0045944, GO:0044344, GO:0006357, GO:0006281, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000278, cellular response to prolactin, cellular response to nerve growth factor stimulus, cellular response to wortmannin, signal transduction involved in DNA damage checkpoint, cellular response to interleukin-2, positive regulation of transcription by RNA polymerase II, cellular response to fibroblast growth factor stimulus, regulation of transcription by RNA polymerase II, DNA repair, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mitotic cell cycle, 410 382 647 306 341 414 308 283 298 ENSG00000096433 chr6 33620365 33696574 + ITPR3 protein_coding This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]. 3710 GO:0045177, GO:0043235, GO:0043209, GO:0043025, GO:0031095, GO:0030667, GO:0030659, GO:0016529, GO:0016020, GO:0005903, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0005737, GO:0005730, GO:0005654, GO:0005640, apical part of cell, receptor complex, myelin sheath, neuronal cell body, platelet dense tubular network membrane, secretory granule membrane, cytoplasmic vesicle membrane, sarcoplasmic reticulum, membrane, brush border, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleolus, nucleoplasm, nuclear outer membrane, GO:0070679, GO:0070679, GO:0043533, GO:0035091, GO:0015278, GO:0005515, GO:0005509, GO:0005220, GO:0005220, GO:0005220, GO:0000822, inositol 1,4,5 trisphosphate binding, inositol 1,4,5 trisphosphate binding, inositol 1,3,4,5 tetrakisphosphate binding, phosphatidylinositol binding, calcium-release channel activity, protein binding, calcium ion binding, inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, inositol hexakisphosphate binding, GO:1903779, GO:0060402, GO:0060291, GO:0051592, GO:0051209, GO:0050917, GO:0050916, GO:0050913, GO:0050796, GO:0048016, GO:0030168, GO:0007613, GO:0007204, GO:0007186, regulation of cardiac conduction, calcium ion transport into cytosol, long-term synaptic potentiation, response to calcium ion, release of sequestered calcium ion into cytosol, sensory perception of umami taste, sensory perception of sweet taste, sensory perception of bitter taste, regulation of insulin secretion, inositol phosphate-mediated signaling, platelet activation, memory, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, 76 57 163 325 60 209 163 46 160 ENSG00000096654 chr6 27450743 27473118 - ZNF184 protein_coding The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]. 7738 GO:0005634, nucleus, GO:0008270, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 42 30 64 60 39 44 38 20 39 ENSG00000096696 chr6 7541575 7586717 + DSP protein_coding This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 1832 GO:0101003, GO:0070062, GO:0030057, GO:0016323, GO:0016020, GO:0014704, GO:0014704, GO:0014704, GO:0005916, GO:0005886, GO:0005886, GO:0005886, GO:0005882, GO:0005882, GO:0005737, GO:0005634, GO:0001533, GO:0001533, ficolin-1-rich granule membrane, extracellular exosome, desmosome, basolateral plasma membrane, membrane, intercalated disc, intercalated disc, intercalated disc, fascia adherens, plasma membrane, plasma membrane, plasma membrane, intermediate filament, intermediate filament, cytoplasm, nucleus, cornified envelope, cornified envelope, GO:0097110, GO:0086083, GO:0005515, GO:0005200, GO:0005198, GO:0005080, GO:0003723, scaffold protein binding, cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication, protein binding, structural constituent of cytoskeleton, structural molecule activity, protein kinase C binding, RNA binding, GO:0150105, GO:0098911, GO:0098609, GO:0090136, GO:0086091, GO:0086073, GO:0070268, GO:0045109, GO:0045104, GO:0043588, GO:0043312, GO:0042060, GO:0034332, GO:0031424, GO:0030216, GO:0018149, GO:0008544, GO:0003223, GO:0002934, protein localization to cell-cell junction, regulation of ventricular cardiac muscle cell action potential, cell-cell adhesion, epithelial cell-cell adhesion, regulation of heart rate by cardiac conduction, bundle of His cell-Purkinje myocyte adhesion involved in cell communication, cornification, intermediate filament organization, intermediate filament cytoskeleton organization, skin development, neutrophil degranulation, wound healing, adherens junction organization, keratinization, keratinocyte differentiation, peptide cross-linking, epidermis development, ventricular compact myocardium morphogenesis, desmosome organization, 0 0 0 0 0 5 0 0 0 ENSG00000096717 chr10 67884669 67918390 + SIRT1 protein_coding This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. 23411 GO:0035098, GO:0033553, GO:0033553, GO:0016605, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005677, GO:0005654, GO:0005654, GO:0005654, GO:0005637, GO:0005637, GO:0005635, GO:0005634, GO:0005634, GO:0000792, GO:0000792, GO:0000791, GO:0000791, GO:0000785, ESC/E(Z) complex, rDNA heterochromatin, rDNA heterochromatin, PML body, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleolus, nucleolus, chromatin silencing complex, nucleoplasm, nucleoplasm, nucleoplasm, nuclear inner membrane, nuclear inner membrane, nuclear envelope, nucleus, nucleus, heterochromatin, heterochromatin, euchromatin, euchromatin, chromatin, GO:1990841, GO:1990254, GO:0106231, GO:0070403, GO:0051019, GO:0046969, GO:0046872, GO:0043425, GO:0043398, GO:0042802, GO:0042393, GO:0035257, GO:0034979, GO:0034979, GO:0034979, GO:0033558, GO:0033558, GO:0019899, GO:0019213, GO:0017136, GO:0017136, GO:0008134, GO:0008022, GO:0005515, GO:0004407, GO:0004407, GO:0003950, GO:0003714, GO:0003714, GO:0003714, GO:0003713, GO:0002039, GO:0002039, GO:0000978, promoter-specific chromatin binding, keratin filament binding, protein-propionyllysine depropionylase activity, NAD+ binding, mitogen-activated protein kinase binding, NAD-dependent histone deacetylase activity (H3-K9 specific), metal ion binding, bHLH transcription factor binding, HLH domain binding, identical protein binding, histone binding, nuclear hormone receptor binding, NAD-dependent protein deacetylase activity, NAD-dependent protein deacetylase activity, NAD-dependent protein deacetylase activity, protein deacetylase activity, protein deacetylase activity, enzyme binding, deacetylase activity, NAD-dependent histone deacetylase activity, NAD-dependent histone deacetylase activity, transcription factor binding, protein C-terminus binding, protein binding, histone deacetylase activity, histone deacetylase activity, NAD+ ADP-ribosyltransferase activity, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, p53 binding, p53 binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000774, GO:2000773, GO:2000773, GO:2000757, GO:2000655, GO:2000619, GO:2000481, GO:2000480, GO:2000111, GO:1990830, GO:1990619, GO:1904179, GO:1902237, GO:1902176, GO:1902166, GO:1901984, GO:1901215, GO:1900113, GO:1900034, GO:0106230, GO:0090400, GO:0090335, GO:0071900, GO:0071479, GO:0071456, GO:0071441, GO:0071356, GO:0070932, GO:0070932, GO:0070932, GO:0070914, GO:0070857, GO:0070829, GO:0070301, GO:0061647, GO:0060766, GO:0055089, GO:0051898, GO:0051574, GO:0051152, GO:0051097, GO:0050872, GO:0046628, GO:0045944, GO:0045892, GO:0045892, GO:0045766, GO:0045766, GO:0045739, GO:0045722, GO:0045599, GO:0045348, GO:0044321, GO:0043536, GO:0043518, GO:0043433, GO:0043433, GO:0043280, GO:0043161, GO:0043124, GO:0043066, GO:0043065, GO:0043065, GO:0042981, GO:0042771, GO:0042632, GO:0042595, GO:0042542, GO:0042326, GO:0042127, GO:0035358, GO:0035356, GO:0034983, GO:0034391, GO:0033210, GO:0032922, GO:0032922, GO:0032868, GO:0032088, GO:0032071, GO:0032007, GO:0031648, GO:0031648, GO:0031507, GO:0031393, GO:0030512, GO:0030308, GO:0030225, GO:0018394, GO:0016575, GO:0016567, GO:0016567, GO:0016239, GO:0016032, GO:0014068, GO:0010934, GO:0010906, GO:0010883, GO:0010875, GO:0010824, GO:0010629, GO:0009267, GO:0008284, GO:0007569, GO:0007517, GO:0007346, GO:0007283, GO:0007179, GO:0006979, GO:0006974, GO:0006642, GO:0006476, GO:0006476, GO:0006476, GO:0006471, GO:0006346, GO:0006325, GO:0002821, GO:0001938, GO:0001934, GO:0001678, GO:0001542, GO:0001525, GO:0000731, GO:0000720, GO:0000183, GO:0000183, GO:0000122, GO:0000122, GO:0000012, positive regulation of cellular senescence, negative regulation of cellular senescence, negative regulation of cellular senescence, negative regulation of peptidyl-lysine acetylation, negative regulation of cellular response to testosterone stimulus, negative regulation of histone H4-K16 acetylation, positive regulation of cAMP-dependent protein kinase activity, negative regulation of cAMP-dependent protein kinase activity, positive regulation of macrophage apoptotic process, cellular response to leukemia inhibitory factor, histone H3-K9 deacetylation, positive regulation of adipose tissue development, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, negative regulation of protein acetylation, negative regulation of neuron death, negative regulation of histone H3-K9 trimethylation, regulation of cellular response to heat, protein depropionylation, stress-induced premature senescence, regulation of brown fat cell differentiation, regulation of protein serine/threonine kinase activity, cellular response to ionizing radiation, cellular response to hypoxia, negative regulation of histone H3-K14 acetylation, cellular response to tumor necrosis factor, histone H3 deacetylation, histone H3 deacetylation, histone H3 deacetylation, UV-damage excision repair, regulation of bile acid biosynthetic process, heterochromatin maintenance, cellular response to hydrogen peroxide, histone H3-K9 modification, negative regulation of androgen receptor signaling pathway, fatty acid homeostasis, negative regulation of protein kinase B signaling, positive regulation of histone H3-K9 methylation, positive regulation of smooth muscle cell differentiation, negative regulation of helicase activity, white fat cell differentiation, positive regulation of insulin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of DNA repair, positive regulation of gluconeogenesis, negative regulation of fat cell differentiation, positive regulation of MHC class II biosynthetic process, response to leptin, positive regulation of blood vessel endothelial cell migration, negative regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA-binding transcription factor activity, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, cholesterol homeostasis, behavioral response to starvation, response to hydrogen peroxide, negative regulation of phosphorylation, regulation of cell population proliferation, regulation of peroxisome proliferator activated receptor signaling pathway, cellular triglyceride homeostasis, peptidyl-lysine deacetylation, regulation of smooth muscle cell apoptotic process, leptin-mediated signaling pathway, circadian regulation of gene expression, circadian regulation of gene expression, response to insulin, negative regulation of NF-kappaB transcription factor activity, regulation of endodeoxyribonuclease activity, negative regulation of TOR signaling, protein destabilization, protein destabilization, heterochromatin assembly, negative regulation of prostaglandin biosynthetic process, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell growth, macrophage differentiation, peptidyl-lysine acetylation, histone deacetylation, protein ubiquitination, protein ubiquitination, positive regulation of macroautophagy, viral process, positive regulation of phosphatidylinositol 3-kinase signaling, macrophage cytokine production, regulation of glucose metabolic process, regulation of lipid storage, positive regulation of cholesterol efflux, regulation of centrosome duplication, negative regulation of gene expression, cellular response to starvation, positive regulation of cell population proliferation, cell aging, muscle organ development, regulation of mitotic cell cycle, spermatogenesis, transforming growth factor beta receptor signaling pathway, response to oxidative stress, cellular response to DNA damage stimulus, triglyceride mobilization, protein deacetylation, protein deacetylation, protein deacetylation, protein ADP-ribosylation, DNA methylation-dependent heterochromatin assembly, chromatin organization, positive regulation of adaptive immune response, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, cellular glucose homeostasis, ovulation from ovarian follicle, angiogenesis, DNA synthesis involved in DNA repair, pyrimidine dimer repair by nucleotide-excision repair, rDNA heterochromatin assembly, rDNA heterochromatin assembly, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, single strand break repair, 607 502 610 1615 1176 1207 1342 670 763 ENSG00000096746 chr10 68331174 68343191 + HNRNPH3 protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]. 3189 GO:1990904, GO:0005681, GO:0005681, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, RNA binding, GO:0043484, GO:0030855, GO:0008380, GO:0006396, GO:0000398, regulation of RNA splicing, epithelial cell differentiation, RNA splicing, RNA processing, mRNA splicing, via spliceosome, 3044 3565 4005 2534 2933 2636 2377 2121 1976 ENSG00000096872 chr9 26947039 27062930 + IFT74 protein_coding This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]. 80173 GO:0097542, GO:0031514, GO:0031410, GO:0030992, GO:0030992, GO:0005929, GO:0005929, GO:0005813, GO:0005634, ciliary tip, motile cilium, cytoplasmic vesicle, intraciliary transport particle B, intraciliary transport particle B, cilium, cilium, centrosome, nucleus, GO:0048487, GO:0048487, GO:0005515, GO:0003682, beta-tubulin binding, beta-tubulin binding, protein binding, chromatin binding, GO:1905515, GO:0060271, GO:0050680, GO:0045944, GO:0035735, GO:0035735, GO:0035735, GO:0033630, GO:0007507, GO:0007368, GO:0007219, GO:0003334, non-motile cilium assembly, cilium assembly, negative regulation of epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, intraciliary transport involved in cilium assembly, intraciliary transport involved in cilium assembly, intraciliary transport involved in cilium assembly, positive regulation of cell adhesion mediated by integrin, heart development, determination of left/right symmetry, Notch signaling pathway, keratinocyte development, 45 59 60 36 36 57 41 31 34 ENSG00000096968 chr9 4984390 5128183 + JAK2 protein_coding This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]. 3717 GO:0098978, GO:0098794, GO:0045121, GO:0031904, GO:0005925, GO:0005901, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000791, glutamatergic synapse, postsynapse, membrane raft, endosome lumen, focal adhesion, caveola, plasma membrane, cytoskeleton, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, euchromatin, GO:0051428, GO:0046872, GO:0043560, GO:0043548, GO:0042802, GO:0042393, GO:0042169, GO:0035401, GO:0035401, GO:0033130, GO:0031702, GO:0020037, GO:0019901, GO:0008022, GO:0005524, GO:0005515, GO:0005143, GO:0005131, GO:0005131, GO:0005102, GO:0004715, GO:0004713, GO:0004713, GO:0004713, GO:0004713, GO:0004672, peptide hormone receptor binding, metal ion binding, insulin receptor substrate binding, phosphatidylinositol 3-kinase binding, identical protein binding, histone binding, SH2 domain binding, histone kinase activity (H3-Y41 specific), histone kinase activity (H3-Y41 specific), acetylcholine receptor binding, type 1 angiotensin receptor binding, heme binding, protein kinase binding, protein C-terminus binding, ATP binding, protein binding, interleukin-12 receptor binding, growth hormone receptor binding, growth hormone receptor binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, GO:1904707, GO:1904037, GO:1902728, GO:0120162, GO:0099527, GO:0097296, GO:0097191, GO:0070757, GO:0070671, GO:0070106, GO:0070102, GO:0061180, GO:0060399, GO:0060397, GO:0060397, GO:0060396, GO:0060391, GO:0060334, GO:0060333, GO:0051770, GO:0051091, GO:0050867, GO:0050804, GO:0050731, GO:0050729, GO:0050727, GO:0048008, GO:0046777, GO:0046677, GO:0046579, GO:0046425, GO:0045822, GO:0045597, GO:0045429, GO:0045428, GO:0045348, GO:0043524, GO:0043392, GO:0043388, GO:0042981, GO:0042976, GO:0042531, GO:0042307, GO:0038155, GO:0035722, GO:0035722, GO:0035556, GO:0035409, GO:0035409, GO:0034612, GO:0033209, GO:0033194, GO:0032760, GO:0032731, GO:0032516, GO:0032496, GO:0032024, GO:0031959, GO:0031103, GO:0030335, GO:0030218, GO:0030218, GO:0030154, GO:0030041, GO:0022408, GO:0019221, GO:0019221, GO:0019221, GO:0019221, GO:0018108, GO:0014068, GO:0014068, GO:0010811, GO:0010667, GO:0008631, GO:0008285, GO:0007596, GO:0007498, GO:0007260, GO:0007260, GO:0007259, GO:0007204, GO:0007186, GO:0007167, GO:0007165, GO:0006919, GO:0006915, GO:0006468, GO:0002250, GO:0001774, GO:0000186, GO:0000165, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of epithelial cell apoptotic process, positive regulation of growth factor dependent skeletal muscle satellite cell proliferation, positive regulation of cold-induced thermogenesis, postsynapse to nucleus signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, extrinsic apoptotic signaling pathway, interleukin-35-mediated signaling pathway, response to interleukin-12, interleukin-27-mediated signaling pathway, interleukin-6-mediated signaling pathway, mammary gland epithelium development, positive regulation of growth hormone receptor signaling pathway, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway, positive regulation of SMAD protein signal transduction, regulation of interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of DNA-binding transcription factor activity, positive regulation of cell activation, modulation of chemical synaptic transmission, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of inflammatory response, regulation of inflammatory response, platelet-derived growth factor receptor signaling pathway, protein autophosphorylation, response to antibiotic, positive regulation of Ras protein signal transduction, regulation of receptor signaling pathway via JAK-STAT, negative regulation of heart contraction, positive regulation of cell differentiation, positive regulation of nitric oxide biosynthetic process, regulation of nitric oxide biosynthetic process, positive regulation of MHC class II biosynthetic process, negative regulation of neuron apoptotic process, negative regulation of DNA binding, positive regulation of DNA binding, regulation of apoptotic process, activation of Janus kinase activity, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of protein import into nucleus, interleukin-23-mediated signaling pathway, interleukin-12-mediated signaling pathway, interleukin-12-mediated signaling pathway, intracellular signal transduction, histone H3-Y41 phosphorylation, histone H3-Y41 phosphorylation, response to tumor necrosis factor, tumor necrosis factor-mediated signaling pathway, response to hydroperoxide, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 beta production, positive regulation of phosphoprotein phosphatase activity, response to lipopolysaccharide, positive regulation of insulin secretion, mineralocorticoid receptor signaling pathway, axon regeneration, positive regulation of cell migration, erythrocyte differentiation, erythrocyte differentiation, cell differentiation, actin filament polymerization, negative regulation of cell-cell adhesion, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of cell-substrate adhesion, negative regulation of cardiac muscle cell apoptotic process, intrinsic apoptotic signaling pathway in response to oxidative stress, negative regulation of cell population proliferation, blood coagulation, mesoderm development, tyrosine phosphorylation of STAT protein, tyrosine phosphorylation of STAT protein, receptor signaling pathway via JAK-STAT, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, enzyme linked receptor protein signaling pathway, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, protein phosphorylation, adaptive immune response, microglial cell activation, activation of MAPKK activity, MAPK cascade, 954 837 1458 520 720 945 680 584 760 ENSG00000096996 chr19 18058995 18098944 - IL12RB1 protein_coding The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 3594 GO:0072536, GO:0072536, GO:0043235, GO:0042022, GO:0042022, GO:0009897, GO:0005886, interleukin-23 receptor complex, interleukin-23 receptor complex, receptor complex, interleukin-12 receptor complex, interleukin-12 receptor complex, external side of plasma membrane, plasma membrane, GO:0042020, GO:0042019, GO:0042019, GO:0019955, GO:0016517, GO:0005143, GO:0005143, GO:0004896, GO:0004896, interleukin-23 receptor activity, interleukin-23 binding, interleukin-23 binding, cytokine binding, interleukin-12 receptor activity, interleukin-12 receptor binding, interleukin-12 receptor binding, cytokine receptor activity, cytokine receptor activity, GO:2000330, GO:2000318, GO:0071346, GO:0043382, GO:0042104, GO:0042104, GO:0038155, GO:0035722, GO:0032729, GO:0032729, GO:0019221, GO:0019221, GO:0007165, GO:0002827, GO:0002827, GO:0002230, GO:0002230, GO:0001916, positive regulation of T-helper 17 cell lineage commitment, positive regulation of T-helper 17 type immune response, cellular response to interferon-gamma, positive regulation of memory T cell differentiation, positive regulation of activated T cell proliferation, positive regulation of activated T cell proliferation, interleukin-23-mediated signaling pathway, interleukin-12-mediated signaling pathway, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, signal transduction, positive regulation of T-helper 1 type immune response, positive regulation of T-helper 1 type immune response, positive regulation of defense response to virus by host, positive regulation of defense response to virus by host, positive regulation of T cell mediated cytotoxicity, 143 241 173 187 238 210 177 181 149 ENSG00000097007 chr9 130713946 130887675 + ABL1 protein_coding This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]. 25 GO:0098794, GO:0048471, GO:0043025, GO:0032991, GO:0031965, GO:0031252, GO:0030425, GO:0016604, GO:0015629, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, postsynapse, perinuclear region of cytoplasm, neuronal cell body, protein-containing complex, nuclear membrane, cell leading edge, dendrite, nuclear body, actin cytoskeleton, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, nucleus, GO:1990837, GO:0097100, GO:0070064, GO:0070064, GO:0051019, GO:0051015, GO:0046875, GO:0042169, GO:0038191, GO:0030145, GO:0019905, GO:0017124, GO:0016301, GO:0008022, GO:0005524, GO:0005515, GO:0005080, GO:0004715, GO:0004715, GO:0004713, GO:0004713, GO:0004713, GO:0004713, GO:0004672, GO:0004672, GO:0004515, GO:0003785, GO:0003713, GO:0003677, GO:0001784, GO:0000405, GO:0000400, GO:0000287, sequence-specific double-stranded DNA binding, supercoiled DNA binding, proline-rich region binding, proline-rich region binding, mitogen-activated protein kinase binding, actin filament binding, ephrin receptor binding, SH2 domain binding, neuropilin binding, manganese ion binding, syntaxin binding, SH3 domain binding, kinase activity, protein C-terminus binding, ATP binding, protein binding, protein kinase C binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, protein kinase activity, nicotinate-nucleotide adenylyltransferase activity, actin monomer binding, transcription coactivator activity, DNA binding, phosphotyrosine residue binding, bubble DNA binding, four-way junction DNA binding, magnesium ion binding, GO:2001020, GO:2000773, GO:2000352, GO:2000251, GO:2000249, GO:2000145, GO:2000096, GO:1990051, GO:1905555, GO:1905244, GO:1904531, GO:1904528, GO:1903351, GO:1903053, GO:1902036, GO:1901216, GO:1900275, GO:1900272, GO:1900026, GO:0090135, GO:0090050, GO:0071901, GO:0071222, GO:0071103, GO:0070374, GO:0070373, GO:0070301, GO:0060563, GO:0060020, GO:0051894, GO:0051882, GO:0051496, GO:0051444, GO:0051444, GO:0051353, GO:0051281, GO:0051149, GO:0050885, GO:0050853, GO:0050852, GO:0050798, GO:0050731, GO:0048668, GO:0048538, GO:0048536, GO:0046777, GO:0046632, GO:0045944, GO:0045931, GO:0045930, GO:0045580, GO:0045184, GO:0043542, GO:0043124, GO:0043123, GO:0043065, GO:0042981, GO:0042770, GO:0038189, GO:0038096, GO:0038083, GO:0038083, GO:0035791, GO:0034599, GO:0034446, GO:0033690, GO:0032956, GO:0032743, GO:0032729, GO:0032489, GO:0031113, GO:0030516, GO:0030514, GO:0030155, GO:0030100, GO:0030036, GO:0030035, GO:0022408, GO:0021587, GO:0018108, GO:0018108, GO:0018108, GO:0010595, GO:0010506, GO:0009791, GO:0008630, GO:0007229, GO:0007204, GO:0007173, GO:0007050, GO:0006979, GO:0006975, GO:0006974, GO:0006914, GO:0006897, GO:0006468, GO:0006464, GO:0006355, GO:0006298, GO:0002333, GO:0002322, GO:0001934, GO:0001922, GO:0001843, GO:0000278, regulation of response to DNA damage stimulus, negative regulation of cellular senescence, negative regulation of endothelial cell apoptotic process, positive regulation of actin cytoskeleton reorganization, regulation of actin cytoskeleton reorganization, regulation of cell motility, positive regulation of Wnt signaling pathway, planar cell polarity pathway, activation of protein kinase C activity, positive regulation blood vessel branching, regulation of modification of synaptic structure, positive regulation of actin filament binding, positive regulation of microtubule binding, cellular response to dopamine, regulation of extracellular matrix organization, regulation of hematopoietic stem cell differentiation, positive regulation of neuron death, negative regulation of phospholipase C activity, negative regulation of long-term synaptic potentiation, positive regulation of substrate adhesion-dependent cell spreading, actin filament branching, positive regulation of cell migration involved in sprouting angiogenesis, negative regulation of protein serine/threonine kinase activity, cellular response to lipopolysaccharide, DNA conformation change, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, cellular response to hydrogen peroxide, neuroepithelial cell differentiation, Bergmann glial cell differentiation, positive regulation of focal adhesion assembly, mitochondrial depolarization, positive regulation of stress fiber assembly, negative regulation of ubiquitin-protein transferase activity, negative regulation of ubiquitin-protein transferase activity, positive regulation of oxidoreductase activity, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of muscle cell differentiation, neuromuscular process controlling balance, B cell receptor signaling pathway, T cell receptor signaling pathway, activated T cell proliferation, positive regulation of peptidyl-tyrosine phosphorylation, collateral sprouting, thymus development, spleen development, protein autophosphorylation, alpha-beta T cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, negative regulation of mitotic cell cycle, regulation of T cell differentiation, establishment of protein localization, endothelial cell migration, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, regulation of apoptotic process, signal transduction in response to DNA damage, neuropilin signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, peptidyl-tyrosine autophosphorylation, peptidyl-tyrosine autophosphorylation, platelet-derived growth factor receptor-beta signaling pathway, cellular response to oxidative stress, substrate adhesion-dependent cell spreading, positive regulation of osteoblast proliferation, regulation of actin cytoskeleton organization, positive regulation of interleukin-2 production, positive regulation of interferon-gamma production, regulation of Cdc42 protein signal transduction, regulation of microtubule polymerization, regulation of axon extension, negative regulation of BMP signaling pathway, regulation of cell adhesion, regulation of endocytosis, actin cytoskeleton organization, microspike assembly, negative regulation of cell-cell adhesion, cerebellum morphogenesis, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, positive regulation of endothelial cell migration, regulation of autophagy, post-embryonic development, intrinsic apoptotic signaling pathway in response to DNA damage, integrin-mediated signaling pathway, positive regulation of cytosolic calcium ion concentration, epidermal growth factor receptor signaling pathway, cell cycle arrest, response to oxidative stress, DNA damage induced protein phosphorylation, cellular response to DNA damage stimulus, autophagy, endocytosis, protein phosphorylation, cellular protein modification process, regulation of transcription, DNA-templated, mismatch repair, transitional one stage B cell differentiation, B cell proliferation involved in immune response, positive regulation of protein phosphorylation, B-1 B cell homeostasis, neural tube closure, mitotic cell cycle, 92 94 122 85 59 94 89 48 86 ENSG00000097021 chr1 6264269 6394391 - ACOT7 protein_coding This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]. 11332 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005654, GO:0005654, extracellular exosome, cytosol, cytosol, cytosol, mitochondrion, nucleoplasm, nucleoplasm, GO:0102991, GO:0052689, GO:0047617, GO:0042803, GO:0036042, GO:0036042, GO:0016290, GO:0016290, GO:0005515, GO:0000062, myristoyl-CoA hydrolase activity, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, protein homodimerization activity, long-chain fatty acyl-CoA binding, long-chain fatty acyl-CoA binding, palmitoyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, protein binding, fatty-acyl-CoA binding, GO:1900535, GO:1900535, GO:0051792, GO:0036116, GO:0036114, GO:0015937, GO:0006637, GO:0006637, GO:0006631, palmitic acid biosynthetic process, palmitic acid biosynthetic process, medium-chain fatty acid biosynthetic process, long-chain fatty-acyl-CoA catabolic process, medium-chain fatty-acyl-CoA catabolic process, coenzyme A biosynthetic process, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, 3 4 10 12 5 18 14 5 13 ENSG00000097033 chr1 86704570 86748184 + SH3GLB1 protein_coding This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 51100 GO:0032991, GO:0031410, GO:0030496, GO:0005829, GO:0005741, GO:0005737, GO:0000421, GO:0000139, protein-containing complex, cytoplasmic vesicle, midbody, cytosol, mitochondrial outer membrane, cytoplasm, autophagosome membrane, Golgi membrane, GO:0045296, GO:0042803, GO:0042802, GO:0008289, GO:0005515, cadherin binding, protein homodimerization activity, identical protein binding, lipid binding, protein binding, GO:2000786, GO:1903955, GO:1903778, GO:1903527, GO:0090148, GO:0048102, GO:0042149, GO:0034198, GO:0032801, GO:0032465, GO:0031647, GO:0031334, GO:0016241, GO:0010508, GO:0006915, GO:0006914, positive regulation of autophagosome assembly, positive regulation of protein targeting to mitochondrion, protein localization to vacuolar membrane, positive regulation of membrane tubulation, membrane fission, autophagic cell death, cellular response to glucose starvation, cellular response to amino acid starvation, receptor catabolic process, regulation of cytokinesis, regulation of protein stability, positive regulation of protein-containing complex assembly, regulation of macroautophagy, positive regulation of autophagy, apoptotic process, autophagy, 2258 1878 2495 702 1220 1093 989 1156 844 ENSG00000097046 chr1 91500893 91525764 + CDC7 protein_coding This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]. 8317 GO:0072686, GO:0045171, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, mitotic spindle, intercellular bridge, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0070317, GO:0051301, GO:0044770, GO:0018105, GO:0010971, GO:0010571, GO:0008284, GO:0006260, GO:0000727, GO:0000082, negative regulation of G0 to G1 transition, cell division, cell cycle phase transition, peptidyl-serine phosphorylation, positive regulation of G2/M transition of mitotic cell cycle, positive regulation of nuclear cell cycle DNA replication, positive regulation of cell population proliferation, DNA replication, double-strand break repair via break-induced replication, G1/S transition of mitotic cell cycle, 6 8 29 28 4 24 18 5 24 ENSG00000097096 chr1 85156873 85201046 - SYDE2 protein_coding 84144 GO:0005829, cytosol, GO:0005096, GTPase activator activity, GO:0090630, GO:0051056, GO:0016477, GO:0007165, activation of GTPase activity, regulation of small GTPase mediated signal transduction, cell migration, signal transduction, 6 1 2 16 3 3 3 5 6 ENSG00000099139 chr9 75890644 76362339 + PCSK5 protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]. 5125 GO:0030173, GO:0030141, GO:0016020, GO:0005802, GO:0005796, GO:0005794, GO:0005794, GO:0005615, GO:0005576, integral component of Golgi membrane, secretory granule, membrane, trans-Golgi network, Golgi lumen, Golgi apparatus, Golgi apparatus, extracellular space, extracellular region, GO:0042277, GO:0008233, GO:0005515, GO:0004252, GO:0004252, GO:0004175, peptide binding, peptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, endopeptidase activity, GO:0140447, GO:0060976, GO:0051004, GO:0048706, GO:0048706, GO:0048566, GO:0048566, GO:0043043, GO:0035108, GO:0032455, GO:0030323, GO:0019058, GO:0019058, GO:0016486, GO:0016486, GO:0016485, GO:0016485, GO:0009952, GO:0007566, GO:0007507, GO:0007368, GO:0007267, GO:0006465, GO:0003279, GO:0002001, GO:0001822, GO:0001822, cytokine precursor processing, coronary vasculature development, regulation of lipoprotein lipase activity, embryonic skeletal system development, embryonic skeletal system development, embryonic digestive tract development, embryonic digestive tract development, peptide biosynthetic process, limb morphogenesis, nerve growth factor processing, respiratory tube development, viral life cycle, viral life cycle, peptide hormone processing, peptide hormone processing, protein processing, protein processing, anterior/posterior pattern specification, embryo implantation, heart development, determination of left/right symmetry, cell-cell signaling, signal peptide processing, cardiac septum development, renin secretion into blood stream, kidney development, kidney development, 35 45 21 33 28 29 24 22 18 ENSG00000099194 chr10 100347124 100364834 + SCD protein_coding This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]. 6319 GO:0030176, GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0005730, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleolus, GO:0032896, GO:0016491, GO:0005515, GO:0005506, GO:0005506, GO:0004768, GO:0004768, palmitoyl-CoA 9-desaturase activity, oxidoreductase activity, protein binding, iron ion binding, iron ion binding, stearoyl-CoA 9-desaturase activity, stearoyl-CoA 9-desaturase activity, GO:1903966, GO:0120162, GO:0070542, GO:0055114, GO:0046949, GO:0045540, GO:0006636, GO:0006636, monounsaturated fatty acid biosynthetic process, positive regulation of cold-induced thermogenesis, response to fatty acid, oxidation-reduction process, fatty-acyl-CoA biosynthetic process, regulation of cholesterol biosynthetic process, unsaturated fatty acid biosynthetic process, unsaturated fatty acid biosynthetic process, 20 38 66 33 21 51 12 11 26 ENSG00000099203 chr19 10832438 10836318 - TMED1 protein_coding This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 11018 GO:0033116, GO:0030134, GO:0016021, GO:0005886, GO:0005794, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005783, GO:0005783, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, integral component of membrane, plasma membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0007267, GO:0007165, GO:0007030, GO:0006888, GO:0006886, cell-cell signaling, signal transduction, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 132 158 157 200 215 212 153 140 187 ENSG00000099204 chr10 114431113 114685003 - ABLIM1 protein_coding This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2017]. 3983 GO:0030027, GO:0015629, GO:0005737, GO:0001725, GO:0001725, lamellipodium, actin cytoskeleton, cytoplasm, stress fiber, stress fiber, GO:0051015, GO:0046872, GO:0005515, GO:0003779, actin filament binding, metal ion binding, protein binding, actin binding, GO:0060271, GO:0060271, GO:0030032, GO:0030032, GO:0009887, GO:0007601, GO:0007010, cilium assembly, cilium assembly, lamellipodium assembly, lamellipodium assembly, animal organ morphogenesis, visual perception, cytoskeleton organization, 261 198 516 691 209 748 533 203 519 ENSG00000099219 chr9 5765076 5833117 - ERMP1 protein_coding 79956 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0046872, GO:0008237, GO:0005515, metal ion binding, metallopeptidase activity, protein binding, GO:0034599, GO:0030968, GO:0006508, cellular response to oxidative stress, endoplasmic reticulum unfolded protein response, proteolysis, 87 89 125 115 57 144 96 70 109 ENSG00000099246 chr10 27504174 27542237 + RAB18 protein_coding The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]. 22931 GO:0071782, GO:0045202, GO:0030667, GO:0016324, GO:0012505, GO:0005886, GO:0005829, GO:0005811, GO:0005794, GO:0005789, endoplasmic reticulum tubular network, synapse, secretory granule membrane, apical plasma membrane, endomembrane system, plasma membrane, cytosol, lipid droplet, Golgi apparatus, endoplasmic reticulum membrane, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0071786, GO:0051170, GO:0043312, GO:0034389, GO:0034389, GO:0016032, GO:0007420, GO:0007264, GO:0006886, GO:0001654, endoplasmic reticulum tubular network organization, import into nucleus, neutrophil degranulation, lipid droplet organization, lipid droplet organization, viral process, brain development, small GTPase mediated signal transduction, intracellular protein transport, eye development, 1381 1029 1302 674 929 921 816 826 836 ENSG00000099250 chr10 33177492 33336262 - NRP1 protein_coding This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Nov 2020]. 8829 GO:0098978, GO:0097443, GO:0043235, GO:0043025, GO:0043005, GO:0031966, GO:0031410, GO:0030426, GO:0030424, GO:0016021, GO:0009986, GO:0005925, GO:0005925, GO:0005886, GO:0005886, GO:0005883, GO:0005829, GO:0005769, GO:0005615, GO:0002116, glutamatergic synapse, sorting endosome, receptor complex, neuronal cell body, neuron projection, mitochondrial membrane, cytoplasmic vesicle, growth cone, axon, integral component of membrane, cell surface, focal adhesion, focal adhesion, plasma membrane, plasma membrane, neurofilament, cytosol, early endosome, extracellular space, semaphorin receptor complex, GO:0046872, GO:0038085, GO:0019955, GO:0019901, GO:0019838, GO:0019838, GO:0017154, GO:0015026, GO:0008201, GO:0005515, GO:0005096, GO:0005021, GO:0005021, metal ion binding, vascular endothelial growth factor binding, cytokine binding, protein kinase binding, growth factor binding, growth factor binding, semaphorin receptor activity, coreceptor activity, heparin binding, protein binding, GTPase activator activity, vascular endothelial growth factor-activated receptor activity, vascular endothelial growth factor-activated receptor activity, GO:2001237, GO:2000251, GO:1905040, GO:1904835, GO:1903375, GO:1902946, GO:1902378, GO:1902336, GO:1902287, GO:1902285, GO:1901998, GO:1901166, GO:1900026, GO:0150020, GO:0150018, GO:0099173, GO:0097491, GO:0097490, GO:0097475, GO:0097374, GO:0097102, GO:0090259, GO:0090050, GO:0071679, GO:0071526, GO:0070374, GO:0061551, GO:0061549, GO:0061441, GO:0061299, GO:0060982, GO:0060978, GO:0060666, GO:0060627, GO:0060385, GO:0060301, GO:0051894, GO:0051496, GO:0051491, GO:0050918, GO:0050731, GO:0048846, GO:0048844, GO:0048843, GO:0048842, GO:0048012, GO:0048010, GO:0048010, GO:0048008, GO:0043547, GO:0043542, GO:0043524, GO:0042327, GO:0038190, GO:0038190, GO:0038189, GO:0036486, GO:0035924, GO:0035767, GO:0035729, GO:0034446, GO:0032489, GO:0031532, GO:0031290, GO:0021828, GO:0021785, GO:0021675, GO:0021649, GO:0021637, GO:0021612, GO:0014911, GO:0010595, GO:0010595, GO:0009887, GO:0009611, GO:0007413, GO:0007411, GO:0007267, GO:0007229, GO:0007165, GO:0006930, GO:0003148, GO:0002042, GO:0002040, GO:0001938, GO:0001764, GO:0001569, GO:0001525, GO:0001525, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of actin cytoskeleton reorganization, otic placode development, dorsal root ganglion morphogenesis, facioacoustic ganglion development, protein localization to early endosome, VEGF-activated neuropilin signaling pathway involved in axon guidance, positive regulation of retinal ganglion cell axon guidance, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway involved in neuron projection guidance, toxin transport, neural crest cell migration involved in autonomic nervous system development, positive regulation of substrate adhesion-dependent cell spreading, basal dendrite arborization, basal dendrite development, postsynapse organization, sympathetic neuron projection guidance, sympathetic neuron projection extension, motor neuron migration, sensory neuron axon guidance, endothelial tip cell fate specification, regulation of retinal ganglion cell axon guidance, positive regulation of cell migration involved in sprouting angiogenesis, commissural neuron axon guidance, semaphorin-plexin signaling pathway, positive regulation of ERK1 and ERK2 cascade, trigeminal ganglion development, sympathetic ganglion development, renal artery morphogenesis, retina vasculature morphogenesis in camera-type eye, coronary artery morphogenesis, angiogenesis involved in coronary vascular morphogenesis, dichotomous subdivision of terminal units involved in salivary gland branching, regulation of vesicle-mediated transport, axonogenesis involved in innervation, positive regulation of cytokine activity, positive regulation of focal adhesion assembly, positive regulation of stress fiber assembly, positive regulation of filopodium assembly, positive chemotaxis, positive regulation of peptidyl-tyrosine phosphorylation, axon extension involved in axon guidance, artery morphogenesis, negative regulation of axon extension involved in axon guidance, positive regulation of axon extension involved in axon guidance, hepatocyte growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, platelet-derived growth factor receptor signaling pathway, positive regulation of GTPase activity, endothelial cell migration, negative regulation of neuron apoptotic process, positive regulation of phosphorylation, VEGF-activated neuropilin signaling pathway, VEGF-activated neuropilin signaling pathway, neuropilin signaling pathway, ventral trunk neural crest cell migration, cellular response to vascular endothelial growth factor stimulus, endothelial cell chemotaxis, cellular response to hepatocyte growth factor stimulus, substrate adhesion-dependent cell spreading, regulation of Cdc42 protein signal transduction, actin cytoskeleton reorganization, retinal ganglion cell axon guidance, gonadotrophin-releasing hormone neuronal migration to the hypothalamus, branchiomotor neuron axon guidance, nerve development, vestibulocochlear nerve structural organization, trigeminal nerve structural organization, facial nerve structural organization, positive regulation of smooth muscle cell migration, positive regulation of endothelial cell migration, positive regulation of endothelial cell migration, animal organ morphogenesis, response to wounding, axonal fasciculation, axon guidance, cell-cell signaling, integrin-mediated signaling pathway, signal transduction, substrate-dependent cell migration, cell extension, outflow tract septum morphogenesis, cell migration involved in sprouting angiogenesis, sprouting angiogenesis, positive regulation of endothelial cell proliferation, neuron migration, branching involved in blood vessel morphogenesis, angiogenesis, angiogenesis, 1 0 1 3 0 0 1 0 0 ENSG00000099251 chr10 38356380 38378505 + HSD17B7P2 transcribed_unprocessed_pseudogene 158160 28 30 45 28 30 45 18 26 21 ENSG00000099256 chr10 24848607 24952604 - PRTFDC1 protein_coding 56952 GO:0042803, GO:0005515, GO:0004422, GO:0000287, GO:0000166, protein homodimerization activity, protein binding, hypoxanthine phosphoribosyltransferase activity, magnesium ion binding, nucleotide binding, GO:0046038, GO:0006178, GO:0006166, GMP catabolic process, guanine salvage, purine ribonucleoside salvage, 4 0 0 2 2 1 0 0 2 ENSG00000099260 chr1 99645943 99694541 + PALMD protein_coding 54873 GO:0043197, GO:0016020, GO:0005737, dendritic spine, membrane, cytoplasm, GO:0005515, protein binding, GO:0008360, regulation of cell shape, 0 0 0 1 0 0 0 0 0 ENSG00000099282 chr10 69451473 69507669 + TSPAN15 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]. 23555 GO:0097197, GO:0031902, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005788, tetraspanin-enriched microdomain, late endosome membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum lumen, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:0072659, GO:0072659, GO:0051604, GO:0051604, GO:0045746, GO:0044267, GO:0008593, protein localization to plasma membrane, protein localization to plasma membrane, protein maturation, protein maturation, negative regulation of Notch signaling pathway, cellular protein metabolic process, regulation of Notch signaling pathway, 1 1 5 18 0 9 6 1 9 ENSG00000099284 chr10 70052796 70112280 + H2AFY2 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015]. 55506 GO:0070062, GO:0005654, GO:0001740, GO:0000786, GO:0000785, GO:0000785, GO:0000781, extracellular exosome, nucleoplasm, Barr body, nucleosome, chromatin, chromatin, chromosome, telomeric region, GO:0046982, GO:0031490, GO:0005515, GO:0003677, GO:0000977, GO:0000976, protein heterodimerization activity, chromatin DNA binding, protein binding, DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901837, GO:0071169, GO:0045814, GO:0045618, GO:0007549, GO:0007420, GO:0006342, GO:0006334, GO:0000122, negative regulation of transcription of nucleolar large rRNA by RNA polymerase I, establishment of protein localization to chromatin, negative regulation of gene expression, epigenetic, positive regulation of keratinocyte differentiation, dosage compensation, brain development, chromatin silencing, nucleosome assembly, negative regulation of transcription by RNA polymerase II, 4 1 0 1 2 12 0 0 12 ENSG00000099290 chr10 50067888 50133506 + WASHC2A protein_coding 387680 GO:0071203, GO:0043231, GO:0031901, GO:0005886, GO:0005829, GO:0005769, GO:0005730, WASH complex, intracellular membrane-bounded organelle, early endosome membrane, plasma membrane, cytosol, early endosome, nucleolus, GO:0008289, GO:0005515, lipid binding, protein binding, GO:0042147, GO:0036010, GO:0015031, retrograde transport, endosome to Golgi, protein localization to endosome, protein transport, 432 374 575 488 361 626 422 286 361 ENSG00000099308 chr19 18097793 18151692 + MAST3 protein_coding 23031 GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0018105, GO:0007010, intracellular signal transduction, peptidyl-serine phosphorylation, cytoskeleton organization, 3928 4580 5177 3271 4732 3798 3658 3261 3011 ENSG00000099326 chr19 58561931 58573575 - MZF1 protein_coding 7593 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0046872, GO:0042803, GO:0005515, GO:0003700, GO:0001228, GO:0001227, GO:0000981, GO:0000978, GO:0000978, GO:0000976, metal ion binding, protein homodimerization activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0006355, GO:0006355, GO:0000122, positive regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 254 310 263 240 380 304 319 276 232 ENSG00000099330 chr19 17226204 17229219 + OCEL1 protein_coding 79629 70 95 108 53 77 70 87 62 33 ENSG00000099331 chr19 17075781 17214537 + MYO9B protein_coding This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 4650 GO:0048471, GO:0016459, GO:0016020, GO:0015629, GO:0005938, GO:0005884, GO:0005829, GO:0005829, GO:0005737, perinuclear region of cytoplasm, myosin complex, membrane, actin cytoskeleton, cell cortex, actin filament, cytosol, cytosol, cytoplasm, GO:0048495, GO:0046872, GO:0043531, GO:0042803, GO:0031267, GO:0016887, GO:0005524, GO:0005516, GO:0005515, GO:0005096, GO:0005096, GO:0003779, GO:0000146, Roundabout binding, metal ion binding, ADP binding, protein homodimerization activity, small GTPase binding, ATPase activity, ATP binding, calmodulin binding, protein binding, GTPase activator activity, GTPase activator activity, actin binding, microfilament motor activity, GO:0051056, GO:0043547, GO:0035385, GO:0035023, GO:0032011, GO:0030048, GO:0030048, GO:0007266, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, Roundabout signaling pathway, regulation of Rho protein signal transduction, ARF protein signal transduction, actin filament-based movement, actin filament-based movement, Rho protein signal transduction, 7049 8237 9282 4692 6981 6258 5638 5658 5376 ENSG00000099337 chr19 38319844 38332076 + KCNK6 protein_coding This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq, Jul 2008]. 9424 GO:0008076, GO:0005887, GO:0005886, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:0022841, GO:0005242, potassium ion leak channel activity, inward rectifier potassium channel activity, GO:0071805, GO:0061337, GO:0060075, GO:0034765, GO:0030322, GO:0006813, GO:0003085, potassium ion transmembrane transport, cardiac conduction, regulation of resting membrane potential, regulation of ion transmembrane transport, stabilization of membrane potential, potassium ion transport, negative regulation of systemic arterial blood pressure, 240 378 346 196 344 268 225 260 255 ENSG00000099338 chr19 38335775 38370943 + CATSPERG protein_coding CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010]. 57828 GO:0097228, GO:0036128, GO:0036128, GO:0031514, GO:0005886, sperm principal piece, CatSper complex, CatSper complex, motile cilium, plasma membrane, GO:0035036, GO:0032570, GO:0030154, GO:0007283, GO:0007275, sperm-egg recognition, response to progesterone, cell differentiation, spermatogenesis, multicellular organism development, 23 27 32 42 38 53 44 28 36 ENSG00000099341 chr19 38374536 38383824 + PSMD8 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]. 5714 GO:0022624, GO:0008541, GO:0005838, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000502, proteasome accessory complex, proteasome regulatory particle, lid subcomplex, proteasome regulatory particle, cytosol, cytosol, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0005515, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 475 485 455 864 883 818 788 643 526 ENSG00000099364 chr16 30923055 30948783 + FBXL19 protein_coding This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 54620 GO:0019005, GO:0005829, GO:0000785, SCF ubiquitin ligase complex, cytosol, chromatin, GO:0045322, GO:0032452, GO:0008270, GO:0005515, GO:0003712, unmethylated CpG binding, histone demethylase activity, zinc ion binding, protein binding, transcription coregulator activity, GO:0043687, GO:0043161, GO:0006482, GO:0006357, GO:0000209, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, protein demethylation, regulation of transcription by RNA polymerase II, protein polyubiquitination, 95 98 99 61 71 57 47 86 52 ENSG00000099365 chr16 30989256 31010661 - STX1B protein_coding The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]. 112755 GO:0048787, GO:0031201, GO:0030424, GO:0016021, GO:0016020, GO:0012505, GO:0008021, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005819, GO:0005815, GO:0005634, presynaptic active zone membrane, SNARE complex, axon, integral component of membrane, membrane, endomembrane system, synaptic vesicle, plasma membrane, plasma membrane, plasma membrane, cytosol, spindle, microtubule organizing center, nucleus, GO:0019904, GO:0019901, GO:0005515, GO:0005484, GO:0005102, GO:0000149, protein domain specific binding, protein kinase binding, protein binding, SNAP receptor activity, signaling receptor binding, SNARE binding, GO:2000463, GO:1905302, GO:1904050, GO:1903422, GO:0098967, GO:0061669, GO:0060025, GO:0048791, GO:0048278, GO:0031629, GO:0016081, GO:0010977, GO:0010807, GO:0010468, GO:0006906, GO:0006904, GO:0006887, GO:0006886, GO:0001956, positive regulation of excitatory postsynaptic potential, negative regulation of macropinocytosis, positive regulation of spontaneous neurotransmitter secretion, negative regulation of synaptic vesicle recycling, exocytic insertion of neurotransmitter receptor to postsynaptic membrane, spontaneous neurotransmitter secretion, regulation of synaptic activity, calcium ion-regulated exocytosis of neurotransmitter, vesicle docking, synaptic vesicle fusion to presynaptic active zone membrane, synaptic vesicle docking, negative regulation of neuron projection development, regulation of synaptic vesicle priming, regulation of gene expression, vesicle fusion, vesicle docking involved in exocytosis, exocytosis, intracellular protein transport, positive regulation of neurotransmitter secretion, 1 4 6 0 17 21 10 8 10 ENSG00000099377 chr16 30985207 30989152 + HSD3B7 protein_coding This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 80270 GO:0016021, GO:0005811, GO:0005789, integral component of membrane, lipid droplet, endoplasmic reticulum membrane, GO:0047016, GO:0016616, GO:0005515, GO:0003854, GO:0003854, cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, GO:0055114, GO:0035754, GO:0006699, oxidation-reduction process, B cell chemotaxis, bile acid biosynthetic process, 9 10 24 24 14 17 37 34 15 ENSG00000099381 chr16 30957294 30984664 + SETD1A protein_coding The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]. 9739 GO:0048188, GO:0048188, GO:0035097, GO:0016607, GO:0005654, GO:0005634, GO:0005634, GO:0000785, Set1C/COMPASS complex, Set1C/COMPASS complex, histone methyltransferase complex, nuclear speck, nucleoplasm, nucleus, nucleus, chromatin, GO:0042800, GO:0008134, GO:0008013, GO:0005515, GO:0003723, histone methyltransferase activity (H3-K4 specific), transcription factor binding, beta-catenin binding, protein binding, RNA binding, GO:1902275, GO:1902036, GO:0097692, GO:0080182, GO:0045652, GO:0044648, GO:0007420, regulation of chromatin organization, regulation of hematopoietic stem cell differentiation, histone H3-K4 monomethylation, histone H3-K4 trimethylation, regulation of megakaryocyte differentiation, histone H3-K4 dimethylation, brain development, 172 223 218 213 218 221 197 157 182 ENSG00000099385 chr16 30833626 30894960 - BCL7C protein_coding This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 9274 GO:0006915, apoptotic process, 50 46 75 91 34 106 68 43 44 ENSG00000099399 chrX 30215560 30220089 + MAGEB2 protein_coding This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]. 4113 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000099617 chr19 1286154 1300237 + EFNA2 protein_coding This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008]. 1943 GO:0043204, GO:0031594, GO:0031225, GO:0005886, GO:0005886, perikaryon, neuromuscular junction, anchored component of membrane, plasma membrane, plasma membrane, GO:0046875, GO:0005515, ephrin receptor binding, protein binding, GO:0048013, GO:0048013, GO:0048013, GO:0046849, GO:0046849, GO:0030316, GO:0030316, GO:0021772, GO:0007411, GO:0007267, ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, bone remodeling, bone remodeling, osteoclast differentiation, osteoclast differentiation, olfactory bulb development, axon guidance, cell-cell signaling, 0 0 0 0 0 0 0 0 0 ENSG00000099622 chr19 1259384 1274880 + CIRBP protein_coding 1153 GO:0010494, GO:0005737, GO:0005737, GO:0005681, GO:0005654, GO:0005634, GO:0005634, GO:0005634, cytoplasmic stress granule, cytoplasm, cytoplasm, spliceosomal complex, nucleoplasm, nucleus, nucleus, nucleus, GO:0070181, GO:0030371, GO:0005515, GO:0003730, GO:0003723, small ribosomal subunit rRNA binding, translation repressor activity, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0048255, GO:0048026, GO:0045727, GO:0034063, GO:0017148, GO:0009411, GO:0009409, mRNA stabilization, positive regulation of mRNA splicing, via spliceosome, positive regulation of translation, stress granule assembly, negative regulation of translation, response to UV, response to cold, 1701 1978 2228 1313 1744 1672 1187 1459 1250 ENSG00000099624 chr19 1241746 1244826 + ATP5F1D protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]. 513 GO:0005759, GO:0005753, GO:0005753, GO:0005743, GO:0005739, GO:0000275, GO:0000275, mitochondrial matrix, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1), mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1), GO:0046933, GO:0043531, GO:0016887, GO:0005524, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, ADP binding, ATPase activity, ATP binding, protein binding, GO:0046688, GO:0042776, GO:0042776, GO:0042776, GO:0042407, GO:0033615, GO:0015986, GO:0009060, GO:0006754, GO:0006754, GO:0006119, response to copper ion, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, mitochondrial proton-transporting ATP synthase complex assembly, ATP synthesis coupled proton transport, aerobic respiration, ATP biosynthetic process, ATP biosynthetic process, oxidative phosphorylation, 105 75 84 82 114 109 77 90 93 ENSG00000099625 chr19 1228287 1238027 - CBARP protein_coding 255057 GO:0030672, GO:0030426, GO:0030141, GO:0030141, GO:0016021, GO:0005886, GO:0005886, synaptic vesicle membrane, growth cone, secretory granule, secretory granule, integral component of membrane, plasma membrane, plasma membrane, GO:0044325, GO:0044325, ion channel binding, ion channel binding, GO:1903170, GO:1901386, GO:1901386, GO:0045955, GO:0045955, negative regulation of calcium ion transmembrane transport, negative regulation of voltage-gated calcium channel activity, negative regulation of voltage-gated calcium channel activity, negative regulation of calcium ion-dependent exocytosis, negative regulation of calcium ion-dependent exocytosis, 2 4 1 19 8 5 14 1 18 ENSG00000099715 chrY 5000226 5742224 + PCDH11Y protein_coding This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 83259 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000099721 chrY 6865918 6874027 - AMELY protein_coding This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]. 266 GO:0062023, collagen-containing extracellular matrix, GO:0030345, structural constituent of tooth enamel, GO:0031214, biomineral tissue development, 0 0 0 0 0 0 0 0 0 ENSG00000099725 chrY 7273972 7381548 + PRKY transcribed_unprocessed_pseudogene This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]. 5616 GO:0005952, cAMP-dependent protein kinase complex, GO:0106311, GO:0106310, GO:0005524, GO:0004691, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, cAMP-dependent protein kinase activity, protein serine/threonine kinase activity, GO:0018105, GO:0007165, GO:0006468, peptidyl-serine phosphorylation, signal transduction, protein phosphorylation, 131 101 193 272 170 301 259 115 220 ENSG00000099769 chr16 1790413 1794971 - IGFALS protein_coding The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 3483 GO:0070062, GO:0042567, GO:0042567, GO:0031012, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, insulin-like growth factor ternary complex, insulin-like growth factor ternary complex, extracellular matrix, extracellular space, extracellular region, extracellular region, GO:0005520, insulin-like growth factor binding, GO:0044267, GO:0007165, GO:0007155, cellular protein metabolic process, signal transduction, cell adhesion, 1 1 2 8 7 3 0 1 0 ENSG00000099783 chr19 8444767 8489114 + HNRNPM protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 4670 GO:1990904, GO:0071014, GO:0071013, GO:0070062, GO:0062023, GO:0042382, GO:0016363, GO:0016020, GO:0005737, GO:0005730, GO:0005681, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, post-mRNA release spliceosomal complex, catalytic step 2 spliceosome, extracellular exosome, collagen-containing extracellular matrix, paraspeckles, nuclear matrix, membrane, cytoplasm, nucleolus, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0019904, GO:0005515, GO:0003729, GO:0003723, GO:0003723, protein domain specific binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:2000815, GO:0016070, GO:0008543, GO:0000398, GO:0000398, GO:0000380, GO:0000380, regulation of mRNA stability involved in response to oxidative stress, RNA metabolic process, fibroblast growth factor receptor signaling pathway, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 959 912 1188 1130 1199 1407 1084 797 1205 ENSG00000099785 chr19 8413270 8439017 + MARCH2 protein_coding MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]. 51257 GO:0031410, GO:0016021, GO:0010008, GO:0005829, GO:0005789, GO:0005783, GO:0005765, cytoplasmic vesicle, integral component of membrane, endosome membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, lysosomal membrane, GO:0061630, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0016567, GO:0016567, GO:0016567, GO:0006897, protein ubiquitination, protein ubiquitination, protein ubiquitination, endocytosis, 368 277 272 195 212 165 142 187 119 ENSG00000099795 chr19 14566078 14572062 - NDUFB7 protein_coding The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]. 4713 GO:0005758, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial intermembrane space, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 48 56 87 74 90 111 73 62 75 ENSG00000099797 chr19 14517085 14565980 + TECR protein_coding This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]. 9524 GO:0030176, GO:0005789, GO:0005783, GO:0005634, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, GO:0102758, GO:0016491, GO:0005515, very-long-chain enoyl-CoA reductase activity, oxidoreductase activity, protein binding, GO:0055114, GO:0042761, GO:0042761, GO:0042761, GO:0035338, GO:0030497, GO:0006665, GO:0006665, oxidation-reduction process, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, sphingolipid metabolic process, sphingolipid metabolic process, 116 116 163 2447 7403 1920 1335 1964 1406 ENSG00000099800 chr19 2425624 2427894 - TIMM13 protein_coding This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]. 26517 GO:0042719, GO:0042719, GO:0005743, GO:0005739, GO:0001650, mitochondrial intermembrane space protein transporter complex, mitochondrial intermembrane space protein transporter complex, mitochondrial inner membrane, mitochondrion, fibrillar center, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0072321, GO:0045039, GO:0007605, GO:0006626, chaperone-mediated protein transport, protein insertion into mitochondrial inner membrane, sensory perception of sound, protein targeting to mitochondrion, 8 15 24 19 18 36 13 17 23 ENSG00000099804 chr19 531712 542092 + CDC34 protein_coding The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008]. 997 GO:0016607, GO:0005829, GO:0005829, GO:0005654, GO:0005634, nuclear speck, cytosol, cytosol, nucleoplasm, nucleus, GO:0061631, GO:0061631, GO:0005524, GO:0005515, GO:0004842, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ATP binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0090261, GO:0070936, GO:0070848, GO:0043951, GO:0043525, GO:0043161, GO:0035458, GO:0016567, GO:0016567, GO:0016567, GO:0006511, GO:0006464, GO:0006270, GO:0000209, GO:0000209, GO:0000082, positive regulation of inclusion body assembly, protein K48-linked ubiquitination, response to growth factor, negative regulation of cAMP-mediated signaling, positive regulation of neuron apoptotic process, proteasome-mediated ubiquitin-dependent protein catabolic process, cellular response to interferon-beta, protein ubiquitination, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, cellular protein modification process, DNA replication initiation, protein polyubiquitination, protein polyubiquitination, G1/S transition of mitotic cell cycle, 431 489 498 327 649 387 330 466 339 ENSG00000099810 chr9 21802543 21937651 + MTAP protein_coding This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008]. 4507 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, cytosol, cytosol, cytosol, nucleus, GO:0017061, GO:0005515, GO:0004645, S-methyl-5-thioadenosine phosphorylase activity, protein binding, 1,4-alpha-oligoglucan phosphorylase activity, GO:0035722, GO:0033574, GO:0032259, GO:0019509, GO:0019509, GO:0019509, GO:0006738, GO:0006166, GO:0006139, interleukin-12-mediated signaling pathway, response to testosterone, methylation, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, nicotinamide riboside catabolic process, purine ribonucleoside salvage, nucleobase-containing compound metabolic process, 7 10 20 58 14 65 46 24 34 ENSG00000099812 chr19 751126 764318 + MISP protein_coding The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]. 126353 GO:1905721, GO:0043231, GO:0031616, GO:0030864, GO:0005925, GO:0005925, GO:0005925, GO:0005886, GO:0005884, mitotic spindle astral microtubule end, intracellular membrane-bounded organelle, spindle pole centrosome, cortical actin cytoskeleton, focal adhesion, focal adhesion, focal adhesion, plasma membrane, actin filament, GO:0051015, GO:0005515, actin filament binding, protein binding, GO:1904776, GO:0090307, GO:0051660, GO:0051640, GO:0051301, GO:0016477, GO:0000132, regulation of protein localization to cell cortex, mitotic spindle assembly, establishment of centrosome localization, organelle localization, cell division, cell migration, establishment of mitotic spindle orientation, 0 0 0 0 0 0 0 0 0 ENSG00000099814 chr14 104865280 104896770 + CEP170B protein_coding 283638 GO:0005874, GO:0005737, microtubule, cytoplasm, 1 3 15 4 1 11 5 2 10 ENSG00000099817 chr19 1086579 1095380 - POLR2E protein_coding This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5434 GO:0005829, GO:0005736, GO:0005666, GO:0005665, GO:0005665, GO:0005654, GO:0005654, GO:0005634, cytosol, RNA polymerase I complex, RNA polymerase III complex, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003899, GO:0003677, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0060964, GO:0050434, GO:0045815, GO:0042795, GO:0035019, GO:0032481, GO:0016070, GO:0016032, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006351, GO:0006283, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, positive regulation of gene expression, epigenetic, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, positive regulation of type I interferon production, RNA metabolic process, viral process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, 655 716 631 565 790 692 591 672 549 ENSG00000099821 chr19 617224 633604 - POLRMT protein_coding This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]. 5442 GO:0042645, GO:0034245, GO:0032991, GO:0005759, GO:0005759, GO:0005739, mitochondrial nucleoid, mitochondrial DNA-directed RNA polymerase complex, protein-containing complex, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0043565, GO:0005515, GO:0003899, GO:0003899, GO:0003899, GO:0003723, GO:0001018, sequence-specific DNA binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA-directed 5'-3' RNA polymerase activity, DNA-directed 5'-3' RNA polymerase activity, RNA binding, mitochondrial promoter sequence-specific DNA binding, GO:0007005, GO:0006391, GO:0006390, GO:0006390, GO:0006390, mitochondrion organization, transcription initiation from mitochondrial promoter, mitochondrial transcription, mitochondrial transcription, mitochondrial transcription, 113 40 65 181 62 110 163 37 93 ENSG00000099822 chr19 589893 617159 + HCN2 protein_coding The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017]. 610 GO:0098855, GO:0008076, GO:0005887, GO:0005886, GO:0005886, HCN channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0030552, GO:0005515, GO:0005249, GO:0005249, GO:0005248, GO:0005222, identical protein binding, cAMP binding, protein binding, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated sodium channel activity, intracellular cAMP-activated cation channel activity, GO:1990573, GO:0098719, GO:0086012, GO:0071805, GO:0071805, GO:0071321, GO:0071320, GO:0042391, GO:0035725, GO:0034765, GO:0007267, potassium ion import across plasma membrane, sodium ion import across plasma membrane, membrane depolarization during cardiac muscle cell action potential, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to cGMP, cellular response to cAMP, regulation of membrane potential, sodium ion transmembrane transport, regulation of ion transmembrane transport, cell-cell signaling, 2 5 6 8 2 8 2 1 11 ENSG00000099834 chr11 616565 626078 - CDHR5 protein_coding This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]. 53841 GO:0070062, GO:0044214, GO:0031528, GO:0031526, GO:0016324, GO:0005905, GO:0005887, extracellular exosome, spanning component of plasma membrane, microvillus membrane, brush border membrane, apical plasma membrane, clathrin-coated pit, integral component of plasma membrane, GO:0050839, GO:0008013, GO:0005515, GO:0005509, cell adhesion molecule binding, beta-catenin binding, protein binding, calcium ion binding, GO:0090675, GO:0032532, GO:0030154, GO:0007156, GO:0007155, GO:0007155, intermicrovillar adhesion, regulation of microvillus length, cell differentiation, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000099840 chr19 2096429 2099593 + IZUMO4 protein_coding 113177 GO:0005634, GO:0005576, nucleus, extracellular region, 54 86 80 19 35 26 33 41 14 ENSG00000099849 chr11 560404 564021 + RASSF7 protein_coding 8045 GO:0034451, GO:0005737, centriolar satellite, cytoplasm, GO:0005515, protein binding, GO:0070507, GO:0007165, GO:0006915, regulation of microtubule cytoskeleton organization, signal transduction, apoptotic process, 1 5 10 8 1 21 15 9 3 ENSG00000099860 chr19 2476122 2478259 + GADD45B protein_coding This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]. 4616 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:1900745, GO:0051726, GO:0046330, GO:0043065, GO:0030154, GO:0007275, GO:0006915, GO:0006469, GO:0000186, GO:0000185, GO:0000185, positive regulation of p38MAPK cascade, regulation of cell cycle, positive regulation of JNK cascade, positive regulation of apoptotic process, cell differentiation, multicellular organism development, apoptotic process, negative regulation of protein kinase activity, activation of MAPKK activity, activation of MAPKKK activity, activation of MAPKKK activity, 537 980 1979 13254 17976 13004 10705 9898 8800 ENSG00000099864 chr19 708939 748329 + PALM protein_coding This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]. 5064 GO:0032591, GO:0031527, GO:0031410, GO:0031235, GO:0030424, GO:0016327, GO:0016323, GO:0005886, GO:0005886, GO:0005654, dendritic spine membrane, filopodium membrane, cytoplasmic vesicle, intrinsic component of the cytoplasmic side of the plasma membrane, axon, apicolateral plasma membrane, basolateral plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0005515, protein binding, GO:0060160, GO:0051491, GO:0051491, GO:0008360, GO:0007194, negative regulation of dopamine receptor signaling pathway, positive regulation of filopodium assembly, positive regulation of filopodium assembly, regulation of cell shape, negative regulation of adenylate cyclase activity, 0 0 0 4 0 0 0 0 0 ENSG00000099866 chr19 489176 505342 + MADCAM1 protein_coding The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]. 8174 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0098640, GO:0098640, integrin binding involved in cell-matrix adhesion, integrin binding involved in cell-matrix adhesion, GO:2000403, GO:0050901, GO:0050901, GO:0050776, GO:0043113, GO:0034113, GO:0034113, GO:0030198, GO:0007229, GO:0007229, GO:0007165, GO:0007160, GO:0007155, GO:0006955, GO:0002687, positive regulation of lymphocyte migration, leukocyte tethering or rolling, leukocyte tethering or rolling, regulation of immune response, receptor clustering, heterotypic cell-cell adhesion, heterotypic cell-cell adhesion, extracellular matrix organization, integrin-mediated signaling pathway, integrin-mediated signaling pathway, signal transduction, cell-matrix adhesion, cell adhesion, immune response, positive regulation of leukocyte migration, 20 22 20 6 43 17 6 38 15 ENSG00000099869 chr11 2140501 2148666 + IGF2-AS antisense This gene is expressed in antisense to the insulin-like growth factor 2 (IGF2) gene and is imprinted and paternally expressed. It is thought to be non-coding because the putative protein is not conserved and translation is predicted to trigger nonsense mediated decay (NMD). Transcripts from this gene are produced in tumors and may function to suppress cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. 51214 0 0 0 0 0 0 0 0 0 ENSG00000099875 chr19 2037465 2051244 - MKNK2 protein_coding This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011]. 2872 GO:0016605, GO:0016604, GO:0005737, GO:0005654, GO:0005634, PML body, nuclear body, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0009931, GO:0005524, GO:0005516, GO:0005515, GO:0004683, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, calcium-dependent protein serine/threonine kinase activity, ATP binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, GO:0097192, GO:0071243, GO:0046777, GO:0035556, GO:0035556, GO:0030097, GO:0018105, GO:0007166, GO:0006468, GO:0006417, extrinsic apoptotic signaling pathway in absence of ligand, cellular response to arsenic-containing substance, protein autophosphorylation, intracellular signal transduction, intracellular signal transduction, hemopoiesis, peptidyl-serine phosphorylation, cell surface receptor signaling pathway, protein phosphorylation, regulation of translation, 9328 9321 12985 8706 16204 16794 12584 14472 15385 ENSG00000099889 chr22 19969896 20016808 - ARVCF protein_coding Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]. 421 GO:0005912, GO:0005886, GO:0005737, GO:0005634, GO:0005622, adherens junction, plasma membrane, cytoplasm, nucleus, intracellular anatomical structure, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0098609, GO:0016339, GO:0007275, GO:0007155, GO:0007043, cell-cell adhesion, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, cell adhesion, cell-cell junction assembly, 1 5 8 4 6 6 9 5 5 ENSG00000099899 chr22 20111866 20117392 - TRMT2A protein_coding The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 27037 GO:0008173, GO:0005515, GO:0003723, RNA methyltransferase activity, protein binding, RNA binding, GO:0006396, GO:0001510, RNA processing, RNA methylation, 136 212 142 734 719 732 848 721 554 ENSG00000099901 chr22 20115938 20127357 + RANBP1 protein_coding This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 5902 GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005737, GO:0005643, GO:0005635, GO:0005634, cytosol, centrosome, cytoplasm, cytoplasm, cytoplasm, nuclear pore, nuclear envelope, nucleus, GO:0045296, GO:0031267, GO:0005515, GO:0005096, GO:0005092, cadherin binding, small GTPase binding, protein binding, GTPase activator activity, GDP-dissociation inhibitor activity, GO:0046907, GO:0046604, GO:0043547, GO:0016032, GO:0007165, intracellular transport, positive regulation of mitotic centrosome separation, positive regulation of GTPase activity, viral process, signal transduction, 50 49 79 191 175 201 216 155 161 ENSG00000099904 chr22 20129456 20148007 + ZDHHC8 protein_coding This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]. 29801 GO:0031966, GO:0016021, GO:0005829, GO:0005794, GO:0005794, GO:0000139, mitochondrial membrane, integral component of membrane, cytosol, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0019706, GO:0019706, GO:0016409, GO:0016409, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, palmitoyltransferase activity, GO:1903078, GO:0034380, GO:0018345, GO:0018345, GO:0018230, GO:0010875, GO:0007626, positive regulation of protein localization to plasma membrane, high-density lipoprotein particle assembly, protein palmitoylation, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, positive regulation of cholesterol efflux, locomotory behavior, 29 27 38 43 12 51 53 23 59 ENSG00000099910 chr22 20441519 20495883 - KLHL22 protein_coding 84861 GO:0072686, GO:0072686, GO:0045171, GO:0031463, GO:0015630, GO:0005829, GO:0005829, GO:0005827, GO:0005827, GO:0005813, GO:0005813, GO:0005794, GO:0005764, GO:0005737, GO:0005737, GO:0005634, mitotic spindle, mitotic spindle, intercellular bridge, Cul3-RING ubiquitin ligase complex, microtubule cytoskeleton, cytosol, cytosol, polar microtubule, polar microtubule, centrosome, centrosome, Golgi apparatus, lysosome, cytoplasm, cytoplasm, nucleus, GO:0071889, GO:0005515, 14-3-3 protein binding, protein binding, GO:1904263, GO:0071233, GO:0051301, GO:0043687, GO:0043161, GO:0030307, GO:0010507, GO:0007094, GO:0007094, GO:0006513, GO:0006513, GO:0000070, positive regulation of TORC1 signaling, cellular response to leucine, cell division, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of cell growth, negative regulation of autophagy, mitotic spindle assembly checkpoint, mitotic spindle assembly checkpoint, protein monoubiquitination, protein monoubiquitination, mitotic sister chromatid segregation, 108 98 121 116 118 150 132 89 127 ENSG00000099917 chr22 20495913 20587632 + MED15 protein_coding The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 51586 GO:0016592, GO:0016020, GO:0005737, GO:0005654, GO:0005654, mediator complex, membrane, cytoplasm, nucleoplasm, nucleoplasm, GO:0005515, GO:0003712, protein binding, transcription coregulator activity, GO:0019827, GO:0006367, GO:0006357, stem cell population maintenance, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 1138 1187 1478 1013 1366 1234 1123 989 1071 ENSG00000099937 chr22 20773879 20787720 + SERPIND1 protein_coding This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]. 3053 GO:0070062, GO:0005788, GO:0005615, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, endoplasmic reticulum lumen, extracellular space, extracellular region, extracellular region, extracellular region, GO:0008201, GO:0004867, GO:0004866, heparin binding, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0044267, GO:0043687, GO:0010951, GO:0007596, GO:0006935, cellular protein metabolic process, post-translational protein modification, negative regulation of endopeptidase activity, blood coagulation, chemotaxis, 9 18 22 0 32 23 9 15 5 ENSG00000099940 chr22 20858983 20891218 + SNAP29 protein_coding This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]. 9342 GO:0098793, GO:0035577, GO:0031201, GO:0031201, GO:0020018, GO:0005886, GO:0005886, GO:0005829, GO:0005813, GO:0005776, GO:0005737, GO:0005654, GO:0000421, GO:0000139, presynapse, azurophil granule membrane, SNARE complex, SNARE complex, ciliary pocket membrane, plasma membrane, plasma membrane, cytosol, centrosome, autophagosome, cytoplasm, nucleoplasm, autophagosome membrane, Golgi membrane, GO:0019905, GO:0005515, GO:0005484, syntaxin binding, protein binding, SNAP receptor activity, GO:0097352, GO:0061025, GO:0060271, GO:0043312, GO:0031629, GO:0016240, GO:0016082, GO:0015031, GO:0006906, GO:0006903, GO:0006887, autophagosome maturation, membrane fusion, cilium assembly, neutrophil degranulation, synaptic vesicle fusion to presynaptic active zone membrane, autophagosome membrane docking, synaptic vesicle priming, protein transport, vesicle fusion, vesicle targeting, exocytosis, 449 475 576 164 302 215 220 277 234 ENSG00000099942 chr22 20917426 20953749 + CRKL protein_coding This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009]. 1399 GO:0098890, GO:0032991, GO:0031594, GO:0005829, GO:0005829, GO:0005654, extrinsic component of postsynaptic membrane, protein-containing complex, neuromuscular junction, cytosol, cytosol, nucleoplasm, GO:0045296, GO:0042802, GO:0005515, GO:0003723, GO:0001784, cadherin binding, identical protein binding, protein binding, RNA binding, phosphotyrosine residue binding, GO:2000404, GO:1904888, GO:1904393, GO:1903977, GO:1900026, GO:0098761, GO:0098749, GO:0095500, GO:0090630, GO:0086100, GO:0071560, GO:0070374, GO:0060465, GO:0060326, GO:0060017, GO:0050852, GO:0050773, GO:0048538, GO:0048384, GO:0046579, GO:0038026, GO:0035690, GO:0035685, GO:0035556, GO:0033628, GO:0030010, GO:0021987, GO:0021766, GO:0019221, GO:0016358, GO:0010629, GO:0009952, GO:0008584, GO:0008543, GO:0008284, GO:0007416, GO:0007338, GO:0007283, GO:0007265, GO:0007254, GO:0006629, GO:0003151, GO:0001934, GO:0001933, GO:0001783, GO:0001764, GO:0001655, GO:0001568, GO:0001558, GO:0000187, GO:0000186, regulation of T cell migration, cranial skeletal system development, regulation of skeletal muscle acetylcholine-gated channel clustering, positive regulation of glial cell migration, positive regulation of substrate adhesion-dependent cell spreading, cellular response to interleukin-7, cerebellar neuron development, acetylcholine receptor signaling pathway, activation of GTPase activity, endothelin receptor signaling pathway, cellular response to transforming growth factor beta stimulus, positive regulation of ERK1 and ERK2 cascade, pharynx development, cell chemotaxis, parathyroid gland development, T cell receptor signaling pathway, regulation of dendrite development, thymus development, retinoic acid receptor signaling pathway, positive regulation of Ras protein signal transduction, reelin-mediated signaling pathway, cellular response to drug, helper T cell diapedesis, intracellular signal transduction, regulation of cell adhesion mediated by integrin, establishment of cell polarity, cerebral cortex development, hippocampus development, cytokine-mediated signaling pathway, dendrite development, negative regulation of gene expression, anterior/posterior pattern specification, male gonad development, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, synapse assembly, single fertilization, spermatogenesis, Ras protein signal transduction, JNK cascade, lipid metabolic process, outflow tract morphogenesis, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, B cell apoptotic process, neuron migration, urogenital system development, blood vessel development, regulation of cell growth, activation of MAPK activity, activation of MAPKK activity, 1098 902 1500 395 604 648 525 580 646 ENSG00000099949 chr22 20982013 20999038 + LZTR1 protein_coding This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]. 8216 GO:0055038, GO:0031463, GO:0012505, GO:0005794, GO:0005794, recycling endosome membrane, Cul3-RING ubiquitin ligase complex, endomembrane system, Golgi apparatus, Golgi apparatus, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0046580, GO:0016567, GO:0016567, negative regulation of Ras protein signal transduction, protein ubiquitination, protein ubiquitination, 14 22 33 34 31 52 36 24 37 ENSG00000099953 chr22 23768226 23784316 + MMP11 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008]. 4320 GO:0031012, GO:0005796, GO:0005576, extracellular matrix, Golgi lumen, extracellular region, GO:0008270, GO:0004222, zinc ion binding, metalloendopeptidase activity, GO:0071711, GO:0045599, GO:0030574, GO:0030574, GO:0030199, GO:0030198, GO:0022617, GO:0007275, GO:0006508, basement membrane organization, negative regulation of fat cell differentiation, collagen catabolic process, collagen catabolic process, collagen fibril organization, extracellular matrix organization, extracellular matrix disassembly, multicellular organism development, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000099954 chr22 17359949 17558149 + CECR2 protein_coding This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 27443 GO:0090537, GO:0090537, GO:0005634, GO:0000791, CERF complex, CERF complex, nucleus, euchromatin, GO:0097194, GO:0061640, GO:0043044, GO:0043044, GO:0016192, GO:0007338, GO:0007010, GO:0006309, execution phase of apoptosis, cytoskeleton-dependent cytokinesis, ATP-dependent chromatin remodeling, ATP-dependent chromatin remodeling, vesicle-mediated transport, single fertilization, cytoskeleton organization, apoptotic DNA fragmentation, 0 0 0 0 0 0 0 0 0 ENSG00000099956 chr22 23786931 23838008 + SMARCB1 protein_coding The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. 6598 GO:0071565, GO:0071565, GO:0071564, GO:0071564, GO:0043231, GO:0035060, GO:0032991, GO:0016514, GO:0016514, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000785, nBAF complex, nBAF complex, npBAF complex, npBAF complex, intracellular membrane-bounded organelle, brahma complex, protein-containing complex, SWI/SNF complex, SWI/SNF complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, chromatin, GO:0031492, GO:0030957, GO:0005515, GO:0003713, GO:0003713, GO:0003712, GO:0003677, GO:0002039, GO:0001164, nucleosomal DNA binding, Tat protein binding, protein binding, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, DNA binding, p53 binding, RNA polymerase I core promoter sequence-specific DNA binding, GO:2000618, GO:2000617, GO:1902661, GO:1901838, GO:1901838, GO:1900113, GO:1900110, GO:0090240, GO:0051091, GO:0045944, GO:0043923, GO:0043044, GO:0039692, GO:0015074, GO:0007399, GO:0007049, GO:0006357, GO:0006357, GO:0006338, GO:0006338, GO:0006337, GO:0001188, regulation of histone H4-K16 acetylation, positive regulation of histone H3-K9 acetylation, positive regulation of glucose mediated signaling pathway, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, negative regulation of histone H3-K9 trimethylation, negative regulation of histone H3-K9 dimethylation, positive regulation of histone H4 acetylation, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation by host of viral transcription, ATP-dependent chromatin remodeling, single stranded viral RNA replication via double stranded DNA intermediate, DNA integration, nervous system development, cell cycle, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, chromatin remodeling, nucleosome disassembly, RNA polymerase I preinitiation complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000099957 chr22 21009808 21028830 + P2RX6 protein_coding The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]. 9127 GO:0043235, GO:0043197, GO:0043025, GO:0030054, GO:0014069, GO:0005887, GO:0005886, GO:0005737, GO:0005639, receptor complex, dendritic spine, neuronal cell body, cell junction, postsynaptic density, integral component of plasma membrane, plasma membrane, cytoplasm, integral component of nuclear inner membrane, GO:0044877, GO:0015267, GO:0005524, GO:0004931, GO:0004931, GO:0004888, GO:0001614, protein-containing complex binding, channel activity, ATP binding, extracellularly ATP-gated cation channel activity, extracellularly ATP-gated cation channel activity, transmembrane signaling receptor activity, purinergic nucleotide receptor activity, GO:0098655, GO:0060079, GO:0035590, GO:0033198, GO:0007596, GO:0007165, GO:0006936, cation transmembrane transport, excitatory postsynaptic potential, purinergic nucleotide receptor signaling pathway, response to ATP, blood coagulation, signal transduction, muscle contraction, 1 4 0 0 0 4 0 0 0 ENSG00000099958 chr22 23834503 23839128 - DERL3 protein_coding The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]. 91319 GO:0048500, GO:0030176, GO:0030176, GO:0005785, GO:0000839, signal recognition particle, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, signal recognition particle receptor complex, Hrd1p ubiquitin ligase ERAD-L complex, GO:1990381, GO:0051787, GO:0005515, ubiquitin-specific protease binding, misfolded protein binding, protein binding, GO:1904153, GO:0030968, GO:0030968, GO:0030433, GO:0030433, GO:0030433, GO:0030433, GO:0018279, negative regulation of retrograde protein transport, ER to cytosol, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein N-linked glycosylation via asparagine, 0 0 0 0 0 0 0 0 0 ENSG00000099960 chr22 21028718 21032840 - SLC7A4 protein_coding 6545 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015174, GO:0015171, basic amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, GO:1990822, GO:0006865, basic amino acid transmembrane transport, amino acid transport, 1 0 0 0 0 0 0 0 0 ENSG00000099968 chr22 17628855 17730855 + BCL2L13 protein_coding This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]. 23786 GO:0031966, GO:0016021, GO:0016021, GO:0005739, GO:0005739, GO:0005739, GO:0005634, mitochondrial membrane, integral component of membrane, integral component of membrane, mitochondrion, mitochondrion, mitochondrion, nucleus, GO:0008656, GO:0005515, cysteine-type endopeptidase activator activity involved in apoptotic process, protein binding, GO:0006919, GO:0006915, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 160 161 335 133 187 195 152 125 128 ENSG00000099974 chr22 23966901 23972532 + DDTL protein_coding 100037417 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0016829, lyase activity, 1 0 1 0 0 0 0 0 0 ENSG00000099977 chr22 23971365 23979828 - DDT protein_coding D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008]. 1652 GO:0070062, GO:0005737, GO:0005615, extracellular exosome, cytoplasm, extracellular space, GO:0050178, GO:0033981, GO:0005126, GO:0004167, phenylpyruvate tautomerase activity, D-dopachrome decarboxylase activity, cytokine receptor binding, dopachrome isomerase activity, GO:0070374, GO:0050729, GO:0042438, GO:0032760, GO:0010760, positive regulation of ERK1 and ERK2 cascade, positive regulation of inflammatory response, melanin biosynthetic process, positive regulation of tumor necrosis factor production, negative regulation of macrophage chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000099984 chr22 23980058 23983915 + GSTT2 polymorphic_pseudogene The protein encoded by this gene, glutathione S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2 gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]. 2953 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0004364, glutathione transferase activity, GO:0006749, glutathione metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000099985 chr22 30262829 30266840 - OSM protein_coding This gene encodes a member of the leukemia inhibitory factor/oncostatin-M (LIF/OSM) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a secreted cytokine and growth regulator that inhibits the proliferation of a number of tumor cell lines. This protein also regulates the production of other cytokines, including interleukin 6, granulocyte-colony stimulating factor and granulocyte-macrophage colony stimulating factor in endothelial cells. This gene and the related gene, leukemia inhibitory factor, also present on chromosome 22, may have resulted from the duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 5008 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005147, GO:0005125, GO:0005125, growth factor activity, protein binding, oncostatin-M receptor binding, cytokine activity, cytokine activity, GO:1902036, GO:0051897, GO:0051781, GO:0050731, GO:0050729, GO:0046888, GO:0045944, GO:0043410, GO:0042531, GO:0040008, GO:0038165, GO:0033138, GO:0032740, GO:0019221, GO:0014068, GO:0008285, GO:0008284, GO:0007275, GO:0006955, GO:0002675, regulation of hematopoietic stem cell differentiation, positive regulation of protein kinase B signaling, positive regulation of cell division, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of inflammatory response, negative regulation of hormone secretion, positive regulation of transcription by RNA polymerase II, positive regulation of MAPK cascade, positive regulation of tyrosine phosphorylation of STAT protein, regulation of growth, oncostatin-M-mediated signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of interleukin-17 production, cytokine-mediated signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cell population proliferation, positive regulation of cell population proliferation, multicellular organism development, immune response, positive regulation of acute inflammatory response, 441 888 579 34008 35925 44955 45371 41250 47604 ENSG00000099991 chr22 24011192 24178628 + CABIN1 protein_coding Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]. 23523 GO:0016235, GO:0005829, GO:0005654, GO:0005654, GO:0005634, aggresome, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0031491, GO:0004864, nucleosome binding, protein phosphatase inhibitor activity, GO:0032515, GO:0007166, GO:0006336, GO:0006336, negative regulation of phosphoprotein phosphatase activity, cell surface receptor signaling pathway, DNA replication-independent nucleosome assembly, DNA replication-independent nucleosome assembly, 1467 1855 1370 1215 2077 1280 1378 1582 1205 ENSG00000099992 chr22 30291990 30327046 - TBC1D10A protein_coding 83874 GO:0070062, GO:0005902, GO:0005886, GO:0005829, extracellular exosome, microvillus, plasma membrane, cytosol, GO:0045296, GO:0031267, GO:0030165, GO:0005515, GO:0005096, GO:0005085, cadherin binding, small GTPase binding, PDZ domain binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:1902017, GO:0097202, GO:0090630, GO:0045862, GO:0042147, GO:0006886, regulation of cilium assembly, activation of cysteine-type endopeptidase activity, activation of GTPase activity, positive regulation of proteolysis, retrograde transport, endosome to Golgi, intracellular protein transport, 129 114 119 164 160 193 137 140 113 ENSG00000099994 chr22 24181259 24189110 + SUSD2 protein_coding 56241 GO:0070062, GO:0016021, GO:0005886, GO:0005615, extracellular exosome, integral component of membrane, plasma membrane, extracellular space, GO:0005515, protein binding, GO:1902807, GO:0051782, negative regulation of cell cycle G1/S phase transition, negative regulation of cell division, 46 43 9 107 140 42 106 89 30 ENSG00000099995 chr22 30331988 30356947 - SF3A1 protein_coding This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]. 10291 GO:0071013, GO:0071013, GO:0071005, GO:0071004, GO:0071004, GO:0016607, GO:0005686, GO:0005686, GO:0005684, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U2-type prespliceosome, U2-type prespliceosome, nuclear speck, U2 snRNP, U2 snRNP, U2-type spliceosomal complex, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, RNA binding, GO:1903241, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000389, U2-type prespliceosome assembly, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA 3'-splice site recognition, 3269 4034 4445 1278 1597 1429 1420 1537 1286 ENSG00000099998 chr22 24219654 24245142 - GGT5 protein_coding This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. 2687 GO:0031226, GO:0016021, GO:0005886, GO:0005886, intrinsic component of plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0103068, GO:0102953, GO:0036374, GO:0036374, GO:0002951, GO:0000048, GO:0000048, leukotriene C4 gamma-glutamyl transferase activity, hypoglycin A gamma-glutamyl transpeptidase activity, glutathione hydrolase activity, glutathione hydrolase activity, leukotriene-C(4) hydrolase, peptidyltransferase activity, peptidyltransferase activity, GO:1901750, GO:1901750, GO:1901750, GO:0034612, GO:0032496, GO:0032355, GO:0007283, GO:0006954, GO:0006751, GO:0006751, GO:0006750, GO:0006691, GO:0006631, GO:0006520, GO:0006508, GO:0006412, leukotriene D4 biosynthetic process, leukotriene D4 biosynthetic process, leukotriene D4 biosynthetic process, response to tumor necrosis factor, response to lipopolysaccharide, response to estradiol, spermatogenesis, inflammatory response, glutathione catabolic process, glutathione catabolic process, glutathione biosynthetic process, leukotriene metabolic process, fatty acid metabolic process, cellular amino acid metabolic process, proteolysis, translation, 48 46 19 17 32 6 22 28 3 ENSG00000099999 chr22 30368811 30421771 - RNF215 protein_coding 200312 GO:0017119, GO:0016021, GO:0016020, GO:0005802, GO:0005768, Golgi transport complex, integral component of membrane, membrane, trans-Golgi network, endosome, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0016567, GO:0006896, GO:0006623, GO:0006511, protein ubiquitination, Golgi to vacuole transport, protein targeting to vacuole, ubiquitin-dependent protein catabolic process, 76 75 88 64 115 86 112 68 121 ENSG00000100003 chr22 30396857 30425317 + SEC14L2 protein_coding This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]. 23541 GO:0070062, GO:0005829, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0008431, GO:0005543, vitamin E binding, phospholipid binding, GO:0045893, GO:0045540, positive regulation of transcription, DNA-templated, regulation of cholesterol biosynthetic process, 11 4 18 110 14 96 109 10 78 ENSG00000100012 chr22 30447959 30472049 - SEC14L3 protein_coding The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 266629 GO:0070062, extracellular exosome, GO:0008289, lipid binding, 0 0 0 0 0 0 0 0 0 ENSG00000100014 chr22 24270817 24417740 + SPECC1L protein_coding This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]. 23384 GO:0031941, GO:0015629, GO:0005921, GO:0005829, GO:0005819, GO:0005815, filamentous actin, actin cytoskeleton, gap junction, cytosol, spindle, microtubule organizing center, GO:0005515, protein binding, GO:0051301, GO:0030036, GO:0007155, GO:0007049, cell division, actin cytoskeleton organization, cell adhesion, cell cycle, 103 91 119 90 87 114 110 73 104 ENSG00000100023 chr22 21666009 21700015 + PPIL2 protein_coding This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. 23759 GO:0005886, GO:0005796, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, plasma membrane, Golgi lumen, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0061630, GO:0034450, GO:0034450, GO:0016018, GO:0005515, GO:0003755, ubiquitin protein ligase activity, ubiquitin-ubiquitin ligase activity, ubiquitin-ubiquitin ligase activity, cyclosporin A binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, GO:0072659, GO:0050900, GO:0006457, GO:0000413, GO:0000209, GO:0000209, protein localization to plasma membrane, leukocyte migration, protein folding, protein peptidyl-prolyl isomerization, protein polyubiquitination, protein polyubiquitination, 263 259 382 279 293 415 256 213 327 ENSG00000100024 chr22 24494107 24528390 + UPB1 protein_coding This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]. 51733 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0042803, GO:0016811, GO:0008270, GO:0003837, GO:0003837, protein homodimerization activity, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides, zinc ion binding, beta-ureidopropionase activity, beta-ureidopropionase activity, GO:0051289, GO:0051260, GO:0046135, GO:0046135, GO:0033396, GO:0033396, protein homotetramerization, protein homooligomerization, pyrimidine nucleoside catabolic process, pyrimidine nucleoside catabolic process, beta-alanine biosynthetic process via 3-ureidopropionate, beta-alanine biosynthetic process via 3-ureidopropionate, 77 48 174 44 54 53 34 30 54 ENSG00000100027 chr22 21697544 21735834 - YPEL1 protein_coding This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]. 29799 GO:0005634, nucleus, GO:0046872, metal ion binding, 136 107 156 89 91 152 92 81 145 ENSG00000100028 chr22 24555503 24609980 + SNRPD3 protein_coding This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 6634 GO:0097526, GO:0071013, GO:0071013, GO:0071011, GO:0071007, GO:0071005, GO:0046540, GO:0034719, GO:0034719, GO:0034715, GO:0034715, GO:0034709, GO:0030532, GO:0016604, GO:0005829, GO:0005829, GO:0005697, GO:0005689, GO:0005689, GO:0005687, GO:0005687, GO:0005686, GO:0005685, GO:0005685, GO:0005683, GO:0005682, GO:0005681, GO:0005654, GO:0005654, GO:0005634, GO:0000243, spliceosomal tri-snRNP complex, catalytic step 2 spliceosome, catalytic step 2 spliceosome, precatalytic spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, SMN-Sm protein complex, SMN-Sm protein complex, pICln-Sm protein complex, pICln-Sm protein complex, methylosome, small nuclear ribonucleoprotein complex, nuclear body, cytosol, cytosol, telomerase holoenzyme complex, U12-type spliceosomal complex, U12-type spliceosomal complex, U4 snRNP, U4 snRNP, U2 snRNP, U1 snRNP, U1 snRNP, U7 snRNP, U5 snRNP, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, commitment complex, GO:0071209, GO:0071208, GO:0070034, GO:0019899, GO:0005515, GO:0003723, GO:0003723, GO:0003723, U7 snRNA binding, histone pre-mRNA DCP binding, telomerase RNA binding, enzyme binding, protein binding, RNA binding, RNA binding, RNA binding, GO:0051170, GO:0008380, GO:0008334, GO:0006479, GO:0006369, GO:0000398, GO:0000398, GO:0000398, GO:0000387, GO:0000387, GO:0000387, import into nucleus, RNA splicing, histone mRNA metabolic process, protein methylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 227 254 271 193 261 258 173 207 190 ENSG00000100029 chr22 30576625 30607083 - PES1 protein_coding This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]. 23481 GO:0070545, GO:0070545, GO:0030687, GO:0016020, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0000793, PeBoW complex, PeBoW complex, preribosome, large subunit precursor, membrane, cytosol, nucleolus, nucleoplasm, nucleoplasm, condensed chromosome, GO:0043021, GO:0005515, GO:0003723, GO:0003723, ribonucleoprotein complex binding, protein binding, RNA binding, RNA binding, GO:0051726, GO:0042273, GO:0033365, GO:0008283, GO:0007000, GO:0006364, GO:0006364, GO:0000466, GO:0000463, GO:0000463, regulation of cell cycle, ribosomal large subunit biogenesis, protein localization to organelle, cell population proliferation, nucleolus organization, rRNA processing, rRNA processing, maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 20 21 36 64 19 70 46 15 40 ENSG00000100030 chr22 21754500 21867680 - MAPK1 protein_coding This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]. 5594 GO:1904813, GO:0072686, GO:0045202, GO:0043204, GO:0035578, GO:0032991, GO:0032839, GO:0031143, GO:0030424, GO:0005925, GO:0005901, GO:0005901, GO:0005886, GO:0005856, GO:0005829, GO:0005815, GO:0005794, GO:0005770, GO:0005769, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, mitotic spindle, synapse, perikaryon, azurophil granule lumen, protein-containing complex, dendrite cytoplasm, pseudopodium, axon, focal adhesion, caveola, caveola, plasma membrane, cytoskeleton, cytosol, microtubule organizing center, Golgi apparatus, late endosome, early endosome, mitochondrion, cytoplasm, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, nucleus, extracellular region, GO:0042802, GO:0031435, GO:0019902, GO:0016301, GO:0008353, GO:0008134, GO:0005524, GO:0005515, GO:0004708, GO:0004707, GO:0004674, GO:0003690, GO:0001784, identical protein binding, mitogen-activated protein kinase kinase kinase binding, phosphatase binding, kinase activity, RNA polymerase II CTD heptapeptide repeat kinase activity, transcription factor binding, ATP binding, protein binding, MAP kinase kinase activity, MAP kinase activity, protein serine/threonine kinase activity, double-stranded DNA binding, phosphotyrosine residue binding, GO:2000641, GO:1904355, GO:1903351, GO:1900034, GO:0120041, GO:0097011, GO:0090170, GO:0072584, GO:0071356, GO:0071276, GO:0070849, GO:0070371, GO:0070371, GO:0061308, GO:0060716, GO:0060440, GO:0060425, GO:0060324, GO:0060291, GO:0060045, GO:0060020, GO:0051973, GO:0051493, GO:0051403, GO:0051090, GO:0050853, GO:0050852, GO:0048538, GO:0046697, GO:0045893, GO:0045727, GO:0045596, GO:0043627, GO:0043330, GO:0043312, GO:0042473, GO:0042307, GO:0038127, GO:0038096, GO:0038095, GO:0035556, GO:0035094, GO:0034614, GO:0034198, GO:0033598, GO:0032872, GO:0032212, GO:0031663, GO:0031647, GO:0030878, GO:0030641, GO:0030278, GO:0030168, GO:0019858, GO:0019233, GO:0018107, GO:0018105, GO:0016032, GO:0015966, GO:0014066, GO:0010800, GO:0010759, GO:0010628, GO:0010468, GO:0009636, GO:0008543, GO:0007611, GO:0007568, GO:0007411, GO:0007268, GO:0007166, GO:0007165, GO:0007049, GO:0006974, GO:0006935, GO:0006915, GO:0006468, GO:0006468, GO:0000187, GO:0000186, GO:0000165, regulation of early endosome to late endosome transport, positive regulation of telomere capping, cellular response to dopamine, regulation of cellular response to heat, positive regulation of macrophage proliferation, cellular response to granulocyte macrophage colony-stimulating factor stimulus, regulation of Golgi inheritance, caveolin-mediated endocytosis, cellular response to tumor necrosis factor, cellular response to cadmium ion, response to epidermal growth factor, ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, cardiac neural crest cell development involved in heart development, labyrinthine layer blood vessel development, trachea formation, lung morphogenesis, face development, long-term synaptic potentiation, positive regulation of cardiac muscle cell proliferation, Bergmann glial cell differentiation, positive regulation of telomerase activity, regulation of cytoskeleton organization, stress-activated MAPK cascade, regulation of DNA-binding transcription factor activity, B cell receptor signaling pathway, T cell receptor signaling pathway, thymus development, decidualization, positive regulation of transcription, DNA-templated, positive regulation of translation, negative regulation of cell differentiation, response to estrogen, response to exogenous dsRNA, neutrophil degranulation, outer ear morphogenesis, positive regulation of protein import into nucleus, ERBB signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, intracellular signal transduction, response to nicotine, cellular response to reactive oxygen species, cellular response to amino acid starvation, mammary gland epithelial cell proliferation, regulation of stress-activated MAPK cascade, positive regulation of telomere maintenance via telomerase, lipopolysaccharide-mediated signaling pathway, regulation of protein stability, thyroid gland development, regulation of cellular pH, regulation of ossification, platelet activation, cytosine metabolic process, sensory perception of pain, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, viral process, diadenosine tetraphosphate biosynthetic process, regulation of phosphatidylinositol 3-kinase signaling, positive regulation of peptidyl-threonine phosphorylation, positive regulation of macrophage chemotaxis, positive regulation of gene expression, regulation of gene expression, response to toxic substance, fibroblast growth factor receptor signaling pathway, learning or memory, aging, axon guidance, chemical synaptic transmission, cell surface receptor signaling pathway, signal transduction, cell cycle, cellular response to DNA damage stimulus, chemotaxis, apoptotic process, protein phosphorylation, protein phosphorylation, activation of MAPK activity, activation of MAPKK activity, MAPK cascade, 3863 3835 4726 1851 3330 2862 2404 2555 2571 ENSG00000100031 chr22 24583750 24629005 + GGT1 protein_coding The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014]. 2678 GO:0070062, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005615, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0103068, GO:0102953, GO:0036374, GO:0036374, GO:0005515, GO:0002951, GO:0002951, GO:0000048, GO:0000048, leukotriene C4 gamma-glutamyl transferase activity, hypoglycin A gamma-glutamyl transpeptidase activity, glutathione hydrolase activity, glutathione hydrolase activity, protein binding, leukotriene-C(4) hydrolase, leukotriene-C(4) hydrolase, peptidyltransferase activity, peptidyltransferase activity, GO:1901750, GO:1901750, GO:0050727, GO:0050727, GO:0034612, GO:0032496, GO:0032355, GO:0031638, GO:0031179, GO:0019344, GO:0007283, GO:0007283, GO:0006805, GO:0006751, GO:0006751, GO:0006750, GO:0006750, GO:0006691, GO:0006691, GO:0006631, GO:0006536, GO:0006520, GO:0006508, GO:0006412, GO:0002682, GO:0002682, leukotriene D4 biosynthetic process, leukotriene D4 biosynthetic process, regulation of inflammatory response, regulation of inflammatory response, response to tumor necrosis factor, response to lipopolysaccharide, response to estradiol, zymogen activation, peptide modification, cysteine biosynthetic process, spermatogenesis, spermatogenesis, xenobiotic metabolic process, glutathione catabolic process, glutathione catabolic process, glutathione biosynthetic process, glutathione biosynthetic process, leukotriene metabolic process, leukotriene metabolic process, fatty acid metabolic process, glutamate metabolic process, cellular amino acid metabolic process, proteolysis, translation, regulation of immune system process, regulation of immune system process, 691 1114 784 424 557 505 482 527 280 ENSG00000100033 chr22 18912777 18936553 - PRODH protein_coding This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]. 5625 GO:0005759, GO:0005743, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, GO:0071949, GO:0071949, GO:0004657, GO:0004657, GO:0004657, FAD binding, FAD binding, proline dehydrogenase activity, proline dehydrogenase activity, proline dehydrogenase activity, GO:0055114, GO:0019470, GO:0010942, GO:0010133, GO:0010133, GO:0008631, GO:0006562, GO:0006560, oxidation-reduction process, 4-hydroxyproline catabolic process, positive regulation of cell death, proline catabolic process to glutamate, proline catabolic process to glutamate, intrinsic apoptotic signaling pathway in response to oxidative stress, proline catabolic process, proline metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000100034 chr22 21919420 21952837 - PPM1F protein_coding The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 9647 GO:0048471, GO:0032991, GO:0005829, GO:0005829, GO:0005634, perinuclear region of cytoplasm, protein-containing complex, cytosol, cytosol, nucleus, GO:0106307, GO:0106306, GO:0046872, GO:0033192, GO:0008138, GO:0005515, GO:0004724, GO:0004722, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, calmodulin-dependent protein phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, magnesium-dependent protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:2000048, GO:1903827, GO:0097193, GO:0070262, GO:0051894, GO:0051496, GO:0051496, GO:0051496, GO:0051224, GO:0050921, GO:0045927, GO:0045892, GO:0044387, GO:0043280, GO:0043280, GO:0035970, GO:0035690, GO:0033137, GO:0030335, GO:0016576, GO:0010811, GO:0010634, GO:0010628, GO:0006470, GO:0006469, GO:0006469, negative regulation of cell-cell adhesion mediated by cadherin, regulation of cellular protein localization, intrinsic apoptotic signaling pathway, peptidyl-serine dephosphorylation, positive regulation of focal adhesion assembly, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, negative regulation of protein transport, positive regulation of chemotaxis, positive regulation of growth, negative regulation of transcription, DNA-templated, negative regulation of protein kinase activity by regulation of protein phosphorylation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, peptidyl-threonine dephosphorylation, cellular response to drug, negative regulation of peptidyl-serine phosphorylation, positive regulation of cell migration, histone dephosphorylation, positive regulation of cell-substrate adhesion, positive regulation of epithelial cell migration, positive regulation of gene expression, protein dephosphorylation, negative regulation of protein kinase activity, negative regulation of protein kinase activity, 4041 3343 4380 1236 2438 1417 1915 2296 1543 ENSG00000100036 chr22 30635652 30669016 + SLC35E4 protein_coding 339665 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, GO:0015297, GO:0005515, antiporter activity, protein binding, GO:0055085, transmembrane transport, 113 114 143 49 112 125 106 89 107 ENSG00000100038 chr22 21957025 21982816 - TOP3B protein_coding This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]. 8940 GO:0005634, nucleus, GO:0005515, GO:0003917, GO:0003916, GO:0003723, GO:0003677, protein binding, DNA topoisomerase type I (single strand cut, ATP-independent) activity, DNA topoisomerase activity, RNA binding, DNA binding, GO:0006265, DNA topological change, 80 76 109 100 85 171 94 62 72 ENSG00000100053 chr22 25199850 25207363 + CRYBB3 protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]. 1417 GO:0005515, GO:0005212, protein binding, structural constituent of eye lens, GO:0007601, GO:0002088, visual perception, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000100055 chr22 37282027 37315345 + CYTH4 protein_coding This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. 27128 GO:0005886, GO:0005829, GO:0000139, plasma membrane, cytosol, Golgi membrane, GO:0008289, GO:0005515, GO:0005085, lipid binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0032012, regulation of ARF protein signal transduction, 9459 7698 10866 8289 10239 9770 8728 7205 8441 ENSG00000100056 chr22 19130279 19144684 - ESS2 protein_coding This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. 8220 GO:0071013, GO:0071013, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0007399, GO:0000398, nervous system development, mRNA splicing, via spliceosome, 275 355 314 238 439 302 273 326 265 ENSG00000100058 chr22 25448105 25520854 + CRYBB2P1 transcribed_unprocessed_pseudogene 1416 35 27 34 46 51 56 54 32 31 ENSG00000100060 chr22 37469063 37486401 - MFNG protein_coding This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast cancer. [provided by RefSeq, May 2018]. 4242 GO:0030173, GO:0005615, integral component of Golgi membrane, extracellular space, GO:0046872, GO:0033829, GO:0033829, GO:0008375, metal ion binding, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0045747, GO:0032092, GO:0008593, GO:0008593, GO:0007389, GO:0002315, GO:0001825, positive regulation of Notch signaling pathway, positive regulation of protein binding, regulation of Notch signaling pathway, regulation of Notch signaling pathway, pattern specification process, marginal zone B cell differentiation, blastocyst formation, 861 788 965 399 594 488 552 498 340 ENSG00000100065 chr22 37490362 37519542 - CARD10 protein_coding The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]. 29775 GO:0032449, GO:0005737, GO:0005737, CBM complex, cytoplasm, cytoplasm, GO:0050700, GO:0030159, GO:0005515, CARD domain binding, signaling receptor complex adaptor activity, protein binding, GO:1900182, GO:0090051, GO:0065003, GO:0042981, GO:0007250, positive regulation of protein localization to nucleus, negative regulation of cell migration involved in sprouting angiogenesis, protein-containing complex assembly, regulation of apoptotic process, activation of NF-kappaB-inducing kinase activity, 2 0 0 0 0 0 0 0 0 ENSG00000100068 chr22 25351418 25405377 - LRP5L protein_coding 91355 GO:0015026, coreceptor activity, GO:0061304, GO:0061178, GO:0060612, GO:0060444, GO:0060349, GO:0048539, GO:0046849, GO:0045944, GO:0042632, GO:0009952, GO:0002076, GO:0001702, retinal blood vessel morphogenesis, regulation of insulin secretion involved in cellular response to glucose stimulus, adipose tissue development, branching involved in mammary gland duct morphogenesis, bone morphogenesis, bone marrow development, bone remodeling, positive regulation of transcription by RNA polymerase II, cholesterol homeostasis, anterior/posterior pattern specification, osteoblast development, gastrulation with mouth forming second, 67 58 110 38 41 63 68 32 53 ENSG00000100075 chr22 19175575 19178830 - SLC25A1 protein_coding This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 6576 GO:0070062, GO:0016021, GO:0005743, GO:0005634, extracellular exosome, integral component of membrane, mitochondrial inner membrane, nucleus, GO:0071913, GO:0015142, GO:0015137, GO:0005347, citrate secondary active transmembrane transporter activity, tricarboxylic acid transmembrane transporter activity, citrate transmembrane transporter activity, ATP transmembrane transporter activity, GO:0046949, GO:0015867, GO:0006843, GO:0006094, fatty-acyl-CoA biosynthetic process, ATP transport, mitochondrial citrate transmembrane transport, gluconeogenesis, 126 48 113 89 60 84 85 58 89 ENSG00000100077 chr22 25564849 25729294 + GRK3 protein_coding The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]. 157 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0047696, GO:0005524, GO:0005515, GO:0004703, GO:0004672, beta-adrenergic receptor kinase activity, ATP binding, protein binding, G protein-coupled receptor kinase activity, protein kinase activity, GO:0031623, GO:0007186, GO:0007165, GO:0006468, receptor internalization, G protein-coupled receptor signaling pathway, signal transduction, protein phosphorylation, 164 143 218 152 113 149 137 72 65 ENSG00000100078 chr22 31134809 31140607 - PLA2G3 protein_coding This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer's disease. [provided by RefSeq, Apr 2014]. 50487 GO:0055037, GO:0005886, GO:0005814, GO:0005615, GO:0005576, recycling endosome, plasma membrane, centriole, extracellular space, extracellular region, GO:0102568, GO:0102567, GO:0047498, GO:0046872, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, metal ion binding, GO:2001135, GO:1903595, GO:1900222, GO:1900017, GO:0060376, GO:0060271, GO:0050482, GO:0048469, GO:0046488, GO:0046473, GO:0046471, GO:0046470, GO:0046337, GO:0043524, GO:0043303, GO:0042116, GO:0036152, GO:0036151, GO:0036148, GO:0034375, GO:0034374, GO:0032308, GO:0031394, GO:0019372, GO:0010976, GO:0010744, GO:0010629, GO:0007288, GO:0006658, GO:0006644, GO:0002532, GO:0001675, regulation of endocytic recycling, positive regulation of histamine secretion by mast cell, negative regulation of amyloid-beta clearance, positive regulation of cytokine production involved in inflammatory response, positive regulation of mast cell differentiation, cilium assembly, arachidonic acid secretion, cell maturation, phosphatidylinositol metabolic process, phosphatidic acid metabolic process, phosphatidylglycerol metabolic process, phosphatidylcholine metabolic process, phosphatidylethanolamine metabolic process, negative regulation of neuron apoptotic process, mast cell degranulation, macrophage activation, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, high-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, positive regulation of prostaglandin secretion, positive regulation of prostaglandin biosynthetic process, lipoxygenase pathway, positive regulation of neuron projection development, positive regulation of macrophage derived foam cell differentiation, negative regulation of gene expression, sperm axoneme assembly, phosphatidylserine metabolic process, phospholipid metabolic process, production of molecular mediator involved in inflammatory response, acrosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000100079 chr22 37570246 37582616 - LGALS2 protein_coding The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008]. 3957 GO:0005737, cytoplasm, GO:0030246, GO:0016936, GO:0005515, carbohydrate binding, galactoside binding, protein binding, 3 6 11 11 26 15 13 9 15 ENSG00000100083 chr22 37608475 37633564 + GGA1 protein_coding This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 26088 GO:0043231, GO:0032991, GO:0031901, GO:0016020, GO:0010008, GO:0005829, GO:0005794, GO:0005794, GO:0005769, GO:0005654, intracellular membrane-bounded organelle, protein-containing complex, early endosome membrane, membrane, endosome membrane, cytosol, Golgi apparatus, Golgi apparatus, early endosome, nucleoplasm, GO:0031267, GO:0005515, GO:0003674, small GTPase binding, protein binding, molecular_function, GO:1903441, GO:1901998, GO:0045732, GO:0044267, GO:0043001, GO:0042147, GO:0034394, GO:0008104, GO:0006886, GO:0006886, protein localization to ciliary membrane, toxin transport, positive regulation of protein catabolic process, cellular protein metabolic process, Golgi to plasma membrane protein transport, retrograde transport, endosome to Golgi, protein localization to cell surface, protein localization, intracellular protein transport, intracellular protein transport, 923 987 1519 707 925 958 785 702 773 ENSG00000100084 chr22 19330698 19447450 - HIRA protein_coding This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]. 7290 GO:0070062, GO:0032991, GO:0016605, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000417, extracellular exosome, protein-containing complex, PML body, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, HIR complex, GO:0042393, GO:0031491, GO:0005515, GO:0003714, GO:0003677, GO:0001085, histone binding, nucleosome binding, protein binding, transcription corepressor activity, DNA binding, RNA polymerase II transcription factor binding, GO:1903507, GO:0042692, GO:0031935, GO:0009653, GO:0007369, GO:0006357, GO:0006351, GO:0006336, GO:0006336, GO:0001649, GO:0000070, negative regulation of nucleic acid-templated transcription, muscle cell differentiation, regulation of chromatin silencing, anatomical structure morphogenesis, gastrulation, regulation of transcription by RNA polymerase II, transcription, DNA-templated, DNA replication-independent nucleosome assembly, DNA replication-independent nucleosome assembly, osteoblast differentiation, mitotic sister chromatid segregation, 100 110 144 112 182 103 92 103 91 ENSG00000100092 chr22 37634654 37656119 + SH3BP1 protein_coding This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017]. 23616 GO:0031252, GO:0030027, GO:0005923, GO:0005912, GO:0005829, GO:0005829, GO:0005634, GO:0005622, GO:0001891, GO:0000145, cell leading edge, lamellipodium, bicellular tight junction, adherens junction, cytosol, cytosol, nucleus, intracellular anatomical structure, phagocytic cup, exocyst, GO:0031267, GO:0030215, GO:0017124, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, semaphorin receptor binding, SH3 domain binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0071526, GO:0051058, GO:0045198, GO:0043547, GO:0043547, GO:0043535, GO:0035020, GO:0034329, GO:0032956, GO:0032956, GO:0030834, GO:0016477, GO:0007015, GO:0006911, semaphorin-plexin signaling pathway, negative regulation of small GTPase mediated signal transduction, establishment of epithelial cell apical/basal polarity, positive regulation of GTPase activity, positive regulation of GTPase activity, regulation of blood vessel endothelial cell migration, regulation of Rac protein signal transduction, cell junction assembly, regulation of actin cytoskeleton organization, regulation of actin cytoskeleton organization, regulation of actin filament depolymerization, cell migration, actin filament organization, phagocytosis, engulfment, 285 301 329 267 361 371 300 304 232 ENSG00000100095 chr22 26169474 26383597 + SEZ6L protein_coding 23544 GO:0043025, GO:0016021, GO:0005789, neuronal cell body, integral component of membrane, endoplasmic reticulum membrane, GO:0090036, GO:0060074, GO:0021680, GO:0008344, regulation of protein kinase C signaling, synapse maturation, cerebellar Purkinje cell layer development, adult locomotory behavior, 1 0 3 3 4 3 0 4 1 ENSG00000100097 chr22 37675608 37679806 + LGALS1 protein_coding The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]. 3956 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0009986, GO:0005829, GO:0005788, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, cell surface, cytosol, endoplasmic reticulum lumen, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0043236, GO:0042802, GO:0030395, GO:0030246, GO:0005515, GO:0003723, laminin binding, identical protein binding, lactose binding, carbohydrate binding, protein binding, RNA binding, GO:2001200, GO:0071407, GO:0071333, GO:0048678, GO:0046598, GO:0045445, GO:0044267, GO:0043687, GO:0043123, GO:0042981, GO:0042493, GO:0035900, GO:0034120, GO:0031295, GO:0010977, GO:0010812, GO:0006915, GO:0002317, positive regulation of dendritic cell differentiation, cellular response to organic cyclic compound, cellular response to glucose stimulus, response to axon injury, positive regulation of viral entry into host cell, myoblast differentiation, cellular protein metabolic process, post-translational protein modification, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, response to drug, response to isolation stress, positive regulation of erythrocyte aggregation, T cell costimulation, negative regulation of neuron projection development, negative regulation of cell-substrate adhesion, apoptotic process, plasma cell differentiation, 43 38 89 91 95 194 52 79 97 ENSG00000100099 chr22 26443423 26483837 - HPS4 protein_coding This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 89781 GO:0042827, GO:0042470, GO:0031410, GO:0031085, GO:0031085, GO:0016020, GO:0005829, GO:0005765, GO:0005764, GO:0005737, platelet dense granule, melanosome, cytoplasmic vesicle, BLOC-3 complex, BLOC-3 complex, membrane, cytosol, lysosomal membrane, lysosome, cytoplasm, GO:0046983, GO:0042803, GO:0031267, GO:0031267, GO:0005515, GO:0005085, GO:0005085, protein dimerization activity, protein homodimerization activity, small GTPase binding, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1903955, GO:1903232, GO:1903232, GO:0050821, GO:0048075, GO:0030318, GO:0016192, GO:0007599, GO:0007596, GO:0007040, GO:0006605, GO:0006605, positive regulation of protein targeting to mitochondrion, melanosome assembly, melanosome assembly, protein stabilization, positive regulation of eye pigmentation, melanocyte differentiation, vesicle-mediated transport, hemostasis, blood coagulation, lysosome organization, protein targeting, protein targeting, 121 129 156 168 152 153 136 90 142 ENSG00000100100 chr22 31281593 31292534 - PIK3IP1 protein_coding 113791 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0036313, GO:0005515, GO:0004252, phosphatidylinositol 3-kinase catalytic subunit binding, protein binding, serine-type endopeptidase activity, GO:0043553, GO:0043553, GO:0014067, GO:0006508, negative regulation of phosphatidylinositol 3-kinase activity, negative regulation of phosphatidylinositol 3-kinase activity, negative regulation of phosphatidylinositol 3-kinase signaling, proteolysis, 1106 1071 1858 944 981 1969 1521 1073 1887 ENSG00000100101 chr22 37686414 37726503 + Z83844.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000100104 chr22 26483877 26494658 + SRRD protein_coding 402055 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0070453, GO:0042752, GO:0007623, GO:0007017, GO:0006783, regulation of heme biosynthetic process, regulation of circadian rhythm, circadian rhythm, microtubule-based process, heme biosynthetic process, 72 160 198 51 144 158 64 112 102 ENSG00000100105 chr22 31325804 31346232 - PATZ1 protein_coding The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]. 23598 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0031625, GO:0003682, GO:0003677, GO:0001228, GO:0001227, GO:0000978, metal ion binding, ubiquitin protein ligase binding, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045892, GO:0030217, GO:0008584, GO:0007283, GO:0006357, GO:0006355, GO:0000122, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, T cell differentiation, male gonad development, spermatogenesis, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 71 73 98 75 52 78 81 57 54 ENSG00000100106 chr22 37696988 37776556 + TRIOBP protein_coding This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]. 11078 GO:0120044, GO:0030496, GO:0015629, GO:0015629, GO:0015629, GO:0005925, GO:0005815, GO:0005737, GO:0005634, stereocilium base, midbody, actin cytoskeleton, actin cytoskeleton, actin cytoskeleton, focal adhesion, microtubule organizing center, cytoplasm, nucleus, GO:0051015, GO:0051015, GO:0045159, GO:0031625, GO:0031267, actin filament binding, actin filament binding, myosin II binding, ubiquitin protein ligase binding, small GTPase binding, GO:1900026, GO:1900026, GO:0060088, GO:0051301, GO:0051016, GO:0030047, GO:0007605, GO:0007049, GO:0007015, positive regulation of substrate adhesion-dependent cell spreading, positive regulation of substrate adhesion-dependent cell spreading, auditory receptor cell stereocilium organization, cell division, barbed-end actin filament capping, actin modification, sensory perception of sound, cell cycle, actin filament organization, 1214 1604 1382 529 1201 675 720 1051 675 ENSG00000100109 chr22 26491225 26512505 - TFIP11 protein_coding This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 24144 GO:0071013, GO:0071008, GO:0071008, GO:0031012, GO:0016607, GO:0005737, GO:0005730, GO:0005681, GO:0005654, GO:0000781, catalytic step 2 spliceosome, U2-type post-mRNA release spliceosomal complex, U2-type post-mRNA release spliceosomal complex, extracellular matrix, nuclear speck, cytoplasm, nucleolus, spliceosomal complex, nucleoplasm, chromosome, telomeric region, GO:0005515, GO:0003676, protein binding, nucleic acid binding, GO:2001033, GO:1904876, GO:0032091, GO:0031848, GO:0031333, GO:0031214, GO:0006396, GO:0000398, GO:0000398, GO:0000390, GO:0000390, negative regulation of double-strand break repair via nonhomologous end joining, negative regulation of DNA ligase activity, negative regulation of protein binding, protection from non-homologous end joining at telomere, negative regulation of protein-containing complex assembly, biomineral tissue development, RNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal complex disassembly, spliceosomal complex disassembly, 180 571 700 139 352 388 103 298 252 ENSG00000100116 chr22 37807905 37817176 + GCAT protein_coding The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]. 23464 GO:0016607, GO:0005743, GO:0005739, GO:0005739, GO:0005654, nuclear speck, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0030170, GO:0008890, pyridoxal phosphate binding, glycine C-acetyltransferase activity, GO:0019518, GO:0019518, GO:0009058, GO:0006520, L-threonine catabolic process to glycine, L-threonine catabolic process to glycine, biosynthetic process, cellular amino acid metabolic process, 0 2 0 1 1 14 0 2 0 ENSG00000100121 chr22 22644475 22647903 + GGTLC2 protein_coding This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013]. 91227 GO:0070062, extracellular exosome, GO:0036374, GO:0005515, GO:0003674, glutathione hydrolase activity, protein binding, molecular_function, GO:1901750, GO:0008150, GO:0006751, GO:0006508, leukotriene D4 biosynthetic process, biological_process, glutathione catabolic process, proteolysis, 0 0 0 0 1 0 0 1 0 ENSG00000100122 chr22 26599278 26618088 - CRYBB1 protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]. 1414 GO:0005515, GO:0005212, protein binding, structural constituent of eye lens, GO:0007601, GO:0002088, visual perception, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000100124 chr22 37830855 37849327 - ANKRD54 protein_coding 129138 GO:0030496, GO:0005737, GO:0005737, GO:0005634, GO:0005634, midbody, cytoplasm, cytoplasm, nucleus, nucleus, GO:0044877, GO:0019887, GO:0005515, protein-containing complex binding, protein kinase regulator activity, protein binding, GO:1902531, GO:1902531, GO:0045859, GO:0045648, GO:0006913, regulation of intracellular signal transduction, regulation of intracellular signal transduction, regulation of protein kinase activity, positive regulation of erythrocyte differentiation, nucleocytoplasmic transport, 35 13 43 49 35 40 53 36 38 ENSG00000100129 chr22 37848868 37889407 + EIF3L protein_coding 51386 GO:0033290, GO:0016282, GO:0016020, GO:0005852, GO:0005852, GO:0005829, GO:0005654, GO:0001650, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, membrane, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, nucleoplasm, fibrillar center, GO:0005515, GO:0003743, GO:0003743, GO:0003723, protein binding, translation initiation factor activity, translation initiation factor activity, RNA binding, GO:0075525, GO:0006413, GO:0006413, GO:0006413, GO:0006413, GO:0001732, viral translational termination-reinitiation, translational initiation, translational initiation, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, 265 224 323 470 257 479 359 233 263 ENSG00000100138 chr22 41673930 41690504 - SNU13 protein_coding Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 4809 GO:0071011, GO:0071005, GO:0046540, GO:0046540, GO:0032991, GO:0032040, GO:0031428, GO:0031428, GO:0031428, GO:0005730, GO:0005690, GO:0005654, GO:0005634, GO:0001651, precatalytic spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, protein-containing complex, small-subunit processome, box C/D snoRNP complex, box C/D snoRNP complex, box C/D snoRNP complex, nucleolus, U4atac snRNP, nucleoplasm, nucleus, dense fibrillar component, GO:0051117, GO:0034512, GO:0034511, GO:0030622, GO:0030621, GO:0030515, GO:0005515, GO:0003723, GO:0003723, ATPase binding, box C/D snoRNA binding, U3 snoRNA binding, U4atac snRNA binding, U4 snRNA binding, snoRNA binding, protein binding, RNA binding, RNA binding, GO:0030490, GO:0007338, GO:0006364, GO:0000492, GO:0000470, GO:0000398, GO:0000398, GO:0000398, maturation of SSU-rRNA, single fertilization, rRNA processing, box C/D snoRNP assembly, maturation of LSU-rRNA, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 259 292 337 363 277 293 303 219 236 ENSG00000100139 chr22 37905657 37942822 + MICALL1 protein_coding 85377 GO:0055038, GO:0055038, GO:0031902, GO:0019898, GO:0005802, GO:0005770, GO:0005769, recycling endosome membrane, recycling endosome membrane, late endosome membrane, extrinsic component of membrane, trans-Golgi network, late endosome, early endosome, GO:0070300, GO:0046872, GO:0045296, GO:0042802, GO:0031267, GO:0005515, phosphatidic acid binding, metal ion binding, cadherin binding, identical protein binding, small GTPase binding, protein binding, GO:1990126, GO:1990090, GO:0097320, GO:0036010, GO:0032458, GO:0031175, GO:0006898, GO:0006897, GO:0006612, retrograde transport, endosome to plasma membrane, cellular response to nerve growth factor stimulus, plasma membrane tubulation, protein localization to endosome, slow endocytic recycling, neuron projection development, receptor-mediated endocytosis, endocytosis, protein targeting to membrane, 130 186 154 92 138 132 89 129 79 ENSG00000100142 chr22 37952607 38041915 + POLR2F protein_coding This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 5435 GO:0005829, GO:0005736, GO:0005666, GO:0005665, GO:0005665, GO:0005654, GO:0005654, GO:0005634, GO:0001650, cytosol, RNA polymerase I complex, RNA polymerase III complex, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:0003899, GO:0003677, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0060964, GO:0050434, GO:0045815, GO:0042795, GO:0035019, GO:0032481, GO:0016070, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006351, GO:0006283, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, positive regulation of gene expression, epigenetic, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, positive regulation of type I interferon production, RNA metabolic process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, 151 142 189 99 104 115 125 153 113 ENSG00000100146 chr22 37970686 37987422 - SOX10 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]. 6663 GO:0031315, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, extrinsic component of mitochondrial outer membrane, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990841, GO:1990837, GO:0042802, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001216, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, identical protein binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0090090, GO:0071393, GO:0061138, GO:0048709, GO:0048589, GO:0048546, GO:0048484, GO:0048469, GO:0045893, GO:0043066, GO:0035690, GO:0032808, GO:0031643, GO:0030318, GO:0022010, GO:0014015, GO:0014003, GO:0010626, GO:0009653, GO:0007422, GO:0006368, GO:0006357, GO:0006357, GO:0002052, GO:0002009, GO:0001755, GO:0001701, GO:0000122, negative regulation of canonical Wnt signaling pathway, cellular response to progesterone stimulus, morphogenesis of a branching epithelium, oligodendrocyte differentiation, developmental growth, digestive tract morphogenesis, enteric nervous system development, cell maturation, positive regulation of transcription, DNA-templated, negative regulation of apoptotic process, cellular response to drug, lacrimal gland development, positive regulation of myelination, melanocyte differentiation, central nervous system myelination, positive regulation of gliogenesis, oligodendrocyte development, negative regulation of Schwann cell proliferation, anatomical structure morphogenesis, peripheral nervous system development, transcription elongation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, positive regulation of neuroblast proliferation, morphogenesis of an epithelium, neural crest cell migration, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 1 0 0 1 1 0 2 1 0 ENSG00000100147 chr22 41800679 41826299 + CCDC134 protein_coding 79879 GO:0016020, GO:0005783, GO:0005634, GO:0005576, membrane, endoplasmic reticulum, nucleus, extracellular region, GO:0005515, protein binding, GO:1990402, GO:0035162, GO:0021591, GO:0001890, GO:0001525, embryonic liver development, embryonic hemopoiesis, ventricular system development, placenta development, angiogenesis, 14 19 48 14 14 38 19 2 5 ENSG00000100150 chr22 31753867 31908033 + DEPDC5 protein_coding This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 9681 GO:1990130, GO:1990130, GO:0048471, GO:0031463, GO:0005829, GO:0005765, GO:0005765, GO:0005765, GO:0005764, GATOR1 complex, GATOR1 complex, perinuclear region of cytoplasm, Cul3-RING ubiquitin ligase complex, cytosol, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, GO:0044877, GO:0005096, GO:0005096, protein-containing complex binding, GTPase activator activity, GTPase activator activity, GO:1904262, GO:0043547, GO:0035556, GO:0034198, GO:0034198, GO:0032007, GO:0032007, GO:0010506, negative regulation of TORC1 signaling, positive regulation of GTPase activity, intracellular signal transduction, cellular response to amino acid starvation, cellular response to amino acid starvation, negative regulation of TOR signaling, negative regulation of TOR signaling, regulation of autophagy, 74 78 128 50 66 48 53 44 51 ENSG00000100151 chr22 38056311 38075701 + PICK1 protein_coding The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 9463 GO:0098842, GO:0048471, GO:0045202, GO:0043005, GO:0043005, GO:0042734, GO:0032588, GO:0030666, GO:0016235, GO:0014069, GO:0008021, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005794, GO:0005739, GO:0005737, postsynaptic early endosome, perinuclear region of cytoplasm, synapse, neuron projection, neuron projection, presynaptic membrane, trans-Golgi network membrane, endocytic vesicle membrane, aggresome, postsynaptic density, synaptic vesicle, plasma membrane, plasma membrane, cytoskeleton, cytosol, Golgi apparatus, mitochondrion, cytoplasm, GO:0140090, GO:0071933, GO:0051015, GO:0046872, GO:0042802, GO:0042802, GO:0019904, GO:0019899, GO:0008022, GO:0005543, GO:0005515, GO:0005102, GO:0005080, GO:0005080, GO:0001664, membrane curvature sensor activity, Arp2/3 complex binding, actin filament binding, metal ion binding, identical protein binding, identical protein binding, protein domain specific binding, enzyme binding, protein C-terminus binding, phospholipid binding, protein binding, signaling receptor binding, protein kinase C binding, protein kinase C binding, G protein-coupled receptor binding, GO:0097062, GO:0097062, GO:0097061, GO:0060292, GO:0050796, GO:0045161, GO:0043113, GO:0043113, GO:0043046, GO:0043045, GO:0042149, GO:0036294, GO:0034316, GO:0034315, GO:0021782, GO:0015844, GO:0007205, GO:0006890, GO:0006886, GO:0006468, GO:0002092, GO:0002092, dendritic spine maintenance, dendritic spine maintenance, dendritic spine organization, long-term synaptic depression, regulation of insulin secretion, neuronal ion channel clustering, receptor clustering, receptor clustering, DNA methylation involved in gamete generation, DNA methylation involved in embryo development, cellular response to glucose starvation, cellular response to decreased oxygen levels, negative regulation of Arp2/3 complex-mediated actin nucleation, regulation of Arp2/3 complex-mediated actin nucleation, glial cell development, monoamine transport, protein kinase C-activating G protein-coupled receptor signaling pathway, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, protein phosphorylation, positive regulation of receptor internalization, positive regulation of receptor internalization, 89 54 156 89 84 187 127 71 182 ENSG00000100154 chr22 27978014 28679865 - TTC28 protein_coding 23331 GO:0030496, GO:0005815, GO:0005737, GO:0000922, midbody, microtubule organizing center, cytoplasm, spindle pole, GO:0019900, kinase binding, GO:0051301, GO:0007346, GO:0007049, cell division, regulation of mitotic cell cycle, cell cycle, 9 21 5 13 5 19 18 10 17 ENSG00000100156 chr22 38078134 38084093 - SLC16A8 protein_coding SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]. 23539 GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0005887, GO:0005886, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, GO:0015293, GO:0015129, GO:0008028, symporter activity, lactate transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, GO:0050900, GO:0035873, GO:0015727, GO:0015718, GO:0006090, leukocyte migration, lactate transmembrane transport, lactate transport, monocarboxylic acid transport, pyruvate metabolic process, 5 0 3 0 4 0 8 3 0 ENSG00000100162 chr22 41938721 41947164 - CENPM protein_coding The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 79019 GO:0005829, GO:0005829, GO:0005654, GO:0000777, cytosol, cytosol, nucleoplasm, condensed chromosome kinetochore, GO:0034080, CENP-A containing nucleosome assembly, 7 4 5 4 4 7 5 1 2 ENSG00000100167 chr22 41969475 41998221 + SEPT3 protein_coding This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2018]. 55964 GO:0099569, GO:0098793, GO:0043005, GO:0032153, GO:0031105, GO:0031105, GO:0015630, GO:0005940, presynaptic cytoskeleton, presynapse, neuron projection, cell division site, septin complex, septin complex, microtubule cytoskeleton, septin ring, GO:0060090, GO:0042802, GO:0005525, GO:0005515, GO:0003924, GO:0003674, molecular adaptor activity, identical protein binding, GTP binding, protein binding, GTPase activity, molecular_function, GO:0061640, GO:0034613, cytoskeleton-dependent cytokinesis, cellular protein localization, 2 0 0 0 0 0 5 0 0 ENSG00000100170 chr22 32043032 32113029 + SLC5A1 protein_coding This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 6523 GO:0097708, GO:0070062, GO:0048471, GO:0043229, GO:0031526, GO:0016324, GO:0016324, GO:0016021, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005769, intracellular vesicle, extracellular exosome, perinuclear region of cytoplasm, intracellular organelle, brush border membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, early endosome, GO:0055056, GO:0015151, GO:0015151, GO:0015151, GO:0015150, GO:0015146, GO:0005515, GO:0005412, GO:0005412, GO:0005412, GO:0005372, GO:0005367, GO:0005355, GO:0005354, D-glucose transmembrane transporter activity, alpha-glucoside transmembrane transporter activity, alpha-glucoside transmembrane transporter activity, alpha-glucoside transmembrane transporter activity, fucose transmembrane transporter activity, pentose transmembrane transporter activity, protein binding, glucose:sodium symporter activity, glucose:sodium symporter activity, glucose:sodium symporter activity, water transmembrane transporter activity, myo-inositol:sodium symporter activity, glucose transmembrane transporter activity, galactose transmembrane transporter activity, GO:1904659, GO:1904659, GO:1902476, GO:0150104, GO:0150104, GO:0106001, GO:0098719, GO:0098708, GO:0098708, GO:0035377, GO:0015798, GO:0015757, GO:0015756, GO:0015750, GO:0010035, GO:0006814, GO:0000017, GO:0000017, GO:0000017, glucose transmembrane transport, glucose transmembrane transport, chloride transmembrane transport, transport across blood-brain barrier, transport across blood-brain barrier, intestinal hexose absorption, sodium ion import across plasma membrane, glucose import across plasma membrane, glucose import across plasma membrane, transepithelial water transport, myo-inositol transport, galactose transmembrane transport, fucose transmembrane transport, pentose transmembrane transport, response to inorganic substance, sodium ion transport, alpha-glucoside transport, alpha-glucoside transport, alpha-glucoside transport, 0 0 0 0 0 0 0 0 0 ENSG00000100181 chr22 16601887 16698742 + TPTEP1 transcribed_unprocessed_pseudogene 387590 1 4 30 4 1 27 1 4 23 ENSG00000100191 chr22 32218476 32255341 - SLC5A4 protein_coding 6527 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0005412, protein binding, glucose:sodium symporter activity, GO:1904659, GO:0006814, glucose transmembrane transport, sodium ion transport, 2 0 0 2 0 0 0 0 0 ENSG00000100196 chr22 38468062 38483447 + KDELR3 protein_coding This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 11015 GO:0030663, GO:0030133, GO:0016021, GO:0005801, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0000139, GO:0000139, COPI-coated vesicle membrane, transport vesicle, integral component of membrane, cis-Golgi network, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0046923, GO:0005046, ER retention sequence binding, KDEL sequence binding, GO:0036498, GO:0015031, GO:0006890, GO:0006890, GO:0006888, GO:0006621, IRE1-mediated unfolded protein response, protein transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, protein retention in ER lumen, 38 29 48 55 109 157 94 84 118 ENSG00000100197 chr22 42126499 42130906 - CYP2D6 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 1565 GO:0043231, GO:0005789, GO:0005783, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, cytoplasm, GO:0062189, GO:0062188, GO:0062187, GO:0020037, GO:0020037, GO:0016712, GO:0016491, GO:0008395, GO:0008144, GO:0005506, GO:0004497, anandamide 14,15 epoxidase activity, anandamide 11,12 epoxidase activity, anandamide 8,9 epoxidase activity, heme binding, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, steroid hydroxylase activity, drug binding, iron ion binding, monooxygenase activity, GO:0090350, GO:0070989, GO:0055114, GO:0055114, GO:0051100, GO:0046483, GO:0042759, GO:0042738, GO:0042737, GO:0042572, GO:0042572, GO:0033076, GO:0019369, GO:0017144, GO:0017144, GO:0016098, GO:0009822, GO:0009820, GO:0009804, GO:0008210, GO:0008203, GO:0008202, GO:0006805, GO:0006805, GO:0006082, negative regulation of cellular organofluorine metabolic process, oxidative demethylation, oxidation-reduction process, oxidation-reduction process, negative regulation of binding, heterocycle metabolic process, long-chain fatty acid biosynthetic process, exogenous drug catabolic process, drug catabolic process, retinol metabolic process, retinol metabolic process, isoquinoline alkaloid metabolic process, arachidonic acid metabolic process, drug metabolic process, drug metabolic process, monoterpenoid metabolic process, alkaloid catabolic process, alkaloid metabolic process, coumarin metabolic process, estrogen metabolic process, cholesterol metabolic process, steroid metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, 2 3 7 9 9 3 9 6 13 ENSG00000100201 chr22 38483440 38507660 - DDX17 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011]. 10521 GO:1990904, GO:0016607, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, nuclear speck, membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0008186, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003723, GO:0003713, RNA-dependent ATPase activity, ATP binding, protein binding, RNA helicase activity, RNA binding, RNA binding, transcription coactivator activity, GO:2001014, GO:0051607, GO:0045944, GO:0045445, GO:0031047, GO:0030521, GO:0030520, GO:0010586, GO:0006396, GO:0006364, GO:0006357, GO:0001837, GO:0000381, GO:0000380, GO:0000380, regulation of skeletal muscle cell differentiation, defense response to virus, positive regulation of transcription by RNA polymerase II, myoblast differentiation, gene silencing by RNA, androgen receptor signaling pathway, intracellular estrogen receptor signaling pathway, miRNA metabolic process, RNA processing, rRNA processing, regulation of transcription by RNA polymerase II, epithelial to mesenchymal transition, regulation of alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 18921 19943 24882 9896 14729 13273 11866 11493 11039 ENSG00000100206 chr22 38518949 38570286 - DMC1 protein_coding This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 11144 GO:0005694, GO:0005634, GO:0005634, GO:0000794, GO:0000781, chromosome, nucleus, nucleus, condensed nuclear chromosome, chromosome, telomeric region, GO:0042802, GO:0008094, GO:0005524, GO:0005515, GO:0003697, GO:0003690, GO:0003677, GO:0000150, identical protein binding, DNA-dependent ATPase activity, ATP binding, protein binding, single-stranded DNA binding, double-stranded DNA binding, DNA binding, recombinase activity, GO:0070192, GO:0051321, GO:0042148, GO:0010212, GO:0007292, GO:0007286, GO:0007283, GO:0007141, GO:0007131, GO:0007131, GO:0007129, GO:0006312, GO:0001556, GO:0001541, GO:0000730, chromosome organization involved in meiotic cell cycle, meiotic cell cycle, strand invasion, response to ionizing radiation, female gamete generation, spermatid development, spermatogenesis, male meiosis I, reciprocal meiotic recombination, reciprocal meiotic recombination, homologous chromosome pairing at meiosis, mitotic recombination, oocyte maturation, ovarian follicle development, DNA recombinase assembly, 0 0 1 0 0 0 0 0 0 ENSG00000100207 chr22 42160013 42343616 - TCF20 protein_coding This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 6942 GO:0016604, GO:0005654, GO:0005634, GO:0005634, nuclear body, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003723, metal ion binding, protein binding, RNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 12 14 10 7 5 1 4 5 7 ENSG00000100209 chr22 28742031 28757515 + HSCB protein_coding This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent enzymes including succinate dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 150274 GO:0005829, GO:0005739, GO:0005739, GO:0005739, GO:0005737, GO:0005654, cytosol, mitochondrion, mitochondrion, mitochondrion, cytoplasm, nucleoplasm, GO:0051087, GO:0046872, GO:0042802, GO:0005515, GO:0003674, GO:0001671, chaperone binding, metal ion binding, identical protein binding, protein binding, molecular_function, ATPase activator activity, GO:0097428, GO:0051259, GO:0044571, GO:0032781, GO:0016226, protein maturation by iron-sulfur cluster transfer, protein complex oligomerization, [2Fe-2S] cluster assembly, positive regulation of ATPase activity, iron-sulfur cluster assembly, 7 4 4 24 9 13 3 9 16 ENSG00000100211 chr22 38656636 38673854 + CBY1 protein_coding Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 25776 GO:0042995, GO:0016607, GO:0005829, GO:0005814, GO:0005802, GO:0005654, GO:0005634, GO:0005634, cell projection, nuclear speck, cytosol, centriole, trans-Golgi network, nucleoplasm, nucleus, nucleus, GO:0042803, GO:0042802, GO:0008013, GO:0008013, GO:0005515, protein homodimerization activity, identical protein binding, beta-catenin binding, beta-catenin binding, protein binding, GO:0055007, GO:0051289, GO:0045892, GO:0045444, GO:0030178, GO:0030178, GO:0030030, GO:0008104, cardiac muscle cell differentiation, protein homotetramerization, negative regulation of transcription, DNA-templated, fat cell differentiation, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, cell projection organization, protein localization, 18 14 21 10 5 45 10 15 33 ENSG00000100216 chr22 38681948 38685421 + TOMM22 protein_coding The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]. 56993 GO:0016021, GO:0016020, GO:0005742, GO:0005741, GO:0005739, integral component of membrane, membrane, mitochondrial outer membrane translocase complex, mitochondrial outer membrane, mitochondrion, GO:0008320, GO:0008320, GO:0005515, protein transmembrane transporter activity, protein transmembrane transporter activity, protein binding, GO:0071806, GO:0045040, GO:0043065, GO:0016236, GO:0006626, protein transmembrane transport, protein insertion into mitochondrial outer membrane, positive regulation of apoptotic process, macroautophagy, protein targeting to mitochondrion, 39 30 64 71 61 106 52 55 75 ENSG00000100218 chr22 23059415 23145021 - RSPH14 protein_coding This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]. 27156 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 43 26 30 11 23 13 41 18 33 ENSG00000100219 chr22 28794555 28800597 - XBP1 protein_coding This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008]. 7494 GO:0016021, GO:0005789, GO:0005783, GO:0005737, GO:0005654, GO:0005634, GO:0005634, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0046982, GO:0005515, GO:0003700, GO:0003677, GO:0000987, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein heterodimerization activity, protein binding, DNA-binding transcription factor activity, DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000347, GO:1990830, GO:1990418, GO:1903489, GO:1902236, GO:1900103, GO:1900100, GO:0071375, GO:0071353, GO:0071333, GO:0071332, GO:0071230, GO:0071222, GO:0070059, GO:0060691, GO:0060612, GO:0055092, GO:0055089, GO:0048666, GO:0045944, GO:0045944, GO:0045944, GO:0045766, GO:0045600, GO:0045582, GO:0045579, GO:0045348, GO:0043066, GO:0042632, GO:0042149, GO:0036500, GO:0036498, GO:0035470, GO:0035356, GO:0032869, GO:0032755, GO:0031670, GO:0031648, GO:0031017, GO:0030968, GO:0030335, GO:0015031, GO:0010832, GO:0010506, GO:0008284, GO:0008284, GO:0007517, GO:0006990, GO:0006990, GO:0006955, GO:0006914, GO:0006633, GO:0006511, GO:0006366, GO:0002639, GO:0002639, GO:0001935, GO:0001889, GO:0001525, positive regulation of hepatocyte proliferation, cellular response to leukemia inhibitory factor, response to insulin-like growth factor stimulus, positive regulation of lactation, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, positive regulation of endoplasmic reticulum unfolded protein response, positive regulation of plasma cell differentiation, cellular response to peptide hormone stimulus, cellular response to interleukin-4, cellular response to glucose stimulus, cellular response to fructose stimulus, cellular response to amino acid stimulus, cellular response to lipopolysaccharide, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, epithelial cell maturation involved in salivary gland development, adipose tissue development, sterol homeostasis, fatty acid homeostasis, neuron development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of fat cell differentiation, positive regulation of T cell differentiation, positive regulation of B cell differentiation, positive regulation of MHC class II biosynthetic process, negative regulation of apoptotic process, cholesterol homeostasis, cellular response to glucose starvation, ATF6-mediated unfolded protein response, IRE1-mediated unfolded protein response, positive regulation of vascular wound healing, cellular triglyceride homeostasis, cellular response to insulin stimulus, positive regulation of interleukin-6 production, cellular response to nutrient, protein destabilization, exocrine pancreas development, endoplasmic reticulum unfolded protein response, positive regulation of cell migration, protein transport, negative regulation of myotube differentiation, regulation of autophagy, positive regulation of cell population proliferation, positive regulation of cell population proliferation, muscle organ development, positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response, positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response, immune response, autophagy, fatty acid biosynthetic process, ubiquitin-dependent protein catabolic process, transcription by RNA polymerase II, positive regulation of immunoglobulin production, positive regulation of immunoglobulin production, endothelial cell proliferation, liver development, angiogenesis, 167 171 366 401 272 642 354 229 507 ENSG00000100220 chr22 32387582 32412255 - RTCB protein_coding 51493 GO:0072669, GO:0072669, GO:0043231, GO:0005829, GO:0005789, GO:0005737, GO:0005654, GO:0005654, GO:0005635, GO:0005634, GO:0005634, tRNA-splicing ligase complex, tRNA-splicing ligase complex, intracellular membrane-bounded organelle, cytosol, endoplasmic reticulum membrane, cytoplasm, nucleoplasm, nucleoplasm, nuclear envelope, nucleus, nucleus, GO:0046872, GO:0017166, GO:0005525, GO:0005515, GO:0003972, GO:0003972, GO:0003972, GO:0003723, metal ion binding, vinculin binding, GTP binding, protein binding, RNA ligase (ATP) activity, RNA ligase (ATP) activity, RNA ligase (ATP) activity, RNA binding, GO:0006388, GO:0006388, GO:0001890, GO:0001701, GO:0000971, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, placenta development, in utero embryonic development, tRNA exon ligation utilizing 2',3' cyclic phosphate of 5'-exon as source of linkage phosphate, 25 26 56 50 24 74 51 33 40 ENSG00000100221 chr22 38685543 38701556 - JOSD1 protein_coding 9929 GO:0016020, GO:0005886, GO:0005829, membrane, plasma membrane, cytosol, GO:0005515, GO:0004843, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0016579, GO:0016579, protein deubiquitination, protein deubiquitination, 3294 3436 3038 14441 15833 14849 13766 10834 9923 ENSG00000100225 chr22 32474676 32498829 + FBXO7 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]. 25793 GO:1990038, GO:1990037, GO:0097462, GO:0097414, GO:0097409, GO:0032991, GO:0019005, GO:0019005, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0000151, Lewy body corona, Lewy body core, Lewy neurite, classical Lewy body, glial cytoplasmic inclusion, protein-containing complex, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:1990756, GO:0046982, GO:0043130, GO:0031625, GO:0019901, GO:0019901, GO:0005515, GO:0004842, ubiquitin ligase-substrate adaptor activity, protein heterodimerization activity, ubiquitin binding, ubiquitin protein ligase binding, protein kinase binding, protein kinase binding, protein binding, ubiquitin-protein transferase activity, GO:2000134, GO:1903599, GO:1903599, GO:1903204, GO:1903204, GO:0045736, GO:0045620, GO:0043687, GO:0040012, GO:0031647, GO:0016567, GO:0016567, GO:0010975, GO:0006626, GO:0006511, GO:0000422, GO:0000209, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of autophagy of mitochondrion, positive regulation of autophagy of mitochondrion, negative regulation of oxidative stress-induced neuron death, negative regulation of oxidative stress-induced neuron death, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of lymphocyte differentiation, post-translational protein modification, regulation of locomotion, regulation of protein stability, protein ubiquitination, protein ubiquitination, regulation of neuron projection development, protein targeting to mitochondrion, ubiquitin-dependent protein catabolic process, autophagy of mitochondrion, protein polyubiquitination, 330 316 538 331 231 373 365 187 228 ENSG00000100226 chr22 38705723 38738299 + GTPBP1 protein_coding This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]. 9567 GO:0016020, GO:0005829, GO:0000177, membrane, cytosol, cytoplasmic exosome (RNase complex), GO:0005525, GO:0005515, GO:0003924, GO:0003746, GO:0003723, GTP binding, protein binding, GTPase activity, translation elongation factor activity, RNA binding, GO:0061014, GO:0046039, GO:0007165, GO:0006955, GO:0006414, positive regulation of mRNA catabolic process, GTP metabolic process, signal transduction, immune response, translational elongation, 5839 6394 8742 4010 4984 5857 4828 4032 4666 ENSG00000100227 chr22 42583721 42614962 - POLDIP3 protein_coding This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 84271 GO:0036464, GO:0016607, GO:0005829, GO:0005737, GO:0005654, cytoplasmic ribonucleoprotein granule, nuclear speck, cytosol, cytoplasm, nucleoplasm, GO:0044877, GO:0005515, GO:0003723, protein-containing complex binding, protein binding, RNA binding, GO:0045727, GO:0031124, GO:0016973, GO:0006406, GO:0006405, positive regulation of translation, mRNA 3'-end processing, poly(A)+ mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 852 836 1137 426 555 617 587 518 468 ENSG00000100228 chr22 23145326 23164350 + RAB36 protein_coding 9609 GO:0005794, GO:0000139, Golgi apparatus, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0015031, protein transport, 118 134 99 75 107 96 55 102 44 ENSG00000100234 chr22 32801701 32863043 + TIMP3 protein_coding This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]. 7078 GO:0062023, GO:0062023, GO:0031089, GO:0031012, GO:0005634, GO:0005615, GO:0005604, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet dense granule lumen, extracellular matrix, nucleus, extracellular space, basement membrane, extracellular region, GO:0046872, GO:0008191, GO:0008191, GO:0005515, GO:0002020, metal ion binding, metalloendopeptidase inhibitor activity, metalloendopeptidase inhibitor activity, protein binding, protease binding, GO:1904684, GO:1903984, GO:0071310, GO:0070373, GO:0051045, GO:0051045, GO:0034097, GO:0010951, GO:0010033, GO:0009725, GO:0007601, GO:0002576, negative regulation of metalloendopeptidase activity, positive regulation of TRAIL-activated apoptotic signaling pathway, cellular response to organic substance, negative regulation of ERK1 and ERK2 cascade, negative regulation of membrane protein ectodomain proteolysis, negative regulation of membrane protein ectodomain proteolysis, response to cytokine, negative regulation of endopeptidase activity, response to organic substance, response to hormone, visual perception, platelet degranulation, 1 1 2 0 0 0 0 1 0 ENSG00000100239 chr22 50343304 50445090 + PPP6R2 protein_coding The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]. 9701 GO:0043231, GO:0005829, GO:0005829, GO:0005634, intracellular membrane-bounded organelle, cytosol, cytosol, nucleus, GO:0019903, GO:0019888, GO:0005515, protein phosphatase binding, protein phosphatase regulator activity, protein binding, GO:0043666, regulation of phosphoprotein phosphatase activity, 797 797 911 619 895 902 681 701 703 ENSG00000100241 chr22 50445000 50475024 - SBF1 protein_coding This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]. 6305 GO:0048471, GO:0016604, GO:0016021, GO:0016020, GO:0005829, GO:0005789, GO:0005737, GO:0005737, perinuclear region of cytoplasm, nuclear body, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, cytoplasm, GO:0019208, GO:0016791, GO:0008138, GO:0005085, GO:0005085, phosphatase regulator activity, phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0043087, GO:0007283, GO:0006661, GO:0006470, regulation of GTPase activity, spermatogenesis, phosphatidylinositol biosynthetic process, protein dephosphorylation, 1502 1436 1678 1250 1222 1335 1323 924 1090 ENSG00000100242 chr22 38734725 38794143 - SUN2 protein_coding SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]. 25777 GO:0034993, GO:0034993, GO:0031965, GO:0010008, GO:0005639, GO:0005635, GO:0005635, GO:0005635, GO:0005635, GO:0000794, GO:0000781, meiotic nuclear membrane microtubule tethering complex, meiotic nuclear membrane microtubule tethering complex, nuclear membrane, endosome membrane, integral component of nuclear inner membrane, nuclear envelope, nuclear envelope, nuclear envelope, nuclear envelope, condensed nuclear chromosome, chromosome, telomeric region, GO:0140444, GO:0043495, GO:0042802, GO:0008017, GO:0005521, GO:0005515, cytoskeleton-nuclear membrane anchor activity, protein-membrane adaptor activity, identical protein binding, microtubule binding, lamin binding, protein binding, GO:0090292, GO:0051642, GO:0051321, GO:0031022, GO:0030335, GO:0021817, GO:0007097, GO:0007052, GO:0006998, GO:0006998, nuclear matrix anchoring at nuclear membrane, centrosome localization, meiotic cell cycle, nuclear migration along microfilament, positive regulation of cell migration, nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration, nuclear migration, mitotic spindle organization, nuclear envelope organization, nuclear envelope organization, 3702 3799 5476 3970 4227 5485 4521 3497 4557 ENSG00000100243 chr22 42617840 42649568 - CYB5R3 protein_coding This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]. 1727 GO:1903958, GO:0035578, GO:0016020, GO:0005833, GO:0005811, GO:0005789, GO:0005783, GO:0005741, GO:0005739, GO:0005737, GO:0005576, nitric-oxide synthase complex, azurophil granule lumen, membrane, hemoglobin complex, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial outer membrane, mitochondrion, cytoplasm, extracellular region, GO:0071949, GO:0051287, GO:0050421, GO:0043531, GO:0016208, GO:0005515, GO:0004128, FAD binding, NAD binding, nitrite reductase (NO-forming) activity, ADP binding, AMP binding, protein binding, cytochrome-b5 reductase activity, acting on NAD(P)H, GO:0055114, GO:0043312, GO:0019852, GO:0008015, GO:0006809, GO:0006805, GO:0006695, oxidation-reduction process, neutrophil degranulation, L-ascorbic acid metabolic process, blood circulation, nitric oxide biosynthetic process, xenobiotic metabolic process, cholesterol biosynthetic process, 403 345 451 263 324 242 322 273 236 ENSG00000100246 chr22 38778508 38794198 - DNAL4 protein_coding This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]. 10126 GO:0030286, GO:0005929, GO:0005886, GO:0005874, GO:0005737, dynein complex, cilium, plasma membrane, microtubule, cytoplasm, GO:0051959, GO:0045505, GO:0042802, GO:0005515, GO:0003777, dynein light intermediate chain binding, dynein intermediate chain binding, identical protein binding, protein binding, microtubule motor activity, GO:2000582, GO:0007018, positive regulation of ATP-dependent microtubule motor activity, plus-end-directed, microtubule-based movement, 96 77 97 47 61 65 54 74 58 ENSG00000100249 chr22 29058672 29061844 - C22orf31 protein_coding 25770 0 0 0 0 0 0 0 0 0 ENSG00000100253 chr22 50486784 50490648 + MIOX protein_coding 55586 GO:0016234, GO:0005829, GO:0005737, inclusion body, cytosol, cytoplasm, GO:0050113, GO:0050113, GO:0016701, GO:0016651, GO:0008199, GO:0004033, inositol oxygenase activity, inositol oxygenase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, oxidoreductase activity, acting on NAD(P)H, ferric iron binding, aldo-keto reductase (NADP) activity, GO:0055114, GO:0043647, GO:0019310, GO:0019310, GO:0019310, oxidation-reduction process, inositol phosphate metabolic process, inositol catabolic process, inositol catabolic process, inositol catabolic process, 0 0 1 5 0 0 2 0 0 ENSG00000100258 chr22 50502949 50507691 - LMF2 protein_coding 91289 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0051604, protein maturation, 738 930 840 951 1059 992 877 924 815 ENSG00000100263 chr22 29259852 29268209 - RHBDD3 protein_coding 25807 GO:0016021, integral component of membrane, GO:0004252, serine-type endopeptidase activity, GO:0050708, GO:0045732, GO:0032815, GO:0009410, GO:0006508, GO:0002673, GO:0001889, GO:0000165, regulation of protein secretion, positive regulation of protein catabolic process, negative regulation of natural killer cell activation, response to xenobiotic stimulus, proteolysis, regulation of acute inflammatory response, liver development, MAPK cascade, 14 21 16 33 36 26 29 18 23 ENSG00000100266 chr22 42835412 43015145 - PACSIN2 protein_coding This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 11252 GO:0070062, GO:0055038, GO:0043231, GO:0032587, GO:0030659, GO:0019898, GO:0016607, GO:0005925, GO:0005911, GO:0005901, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005769, GO:0005768, GO:0005737, extracellular exosome, recycling endosome membrane, intracellular membrane-bounded organelle, ruffle membrane, cytoplasmic vesicle membrane, extrinsic component of membrane, nuclear speck, focal adhesion, cell-cell junction, caveola, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, early endosome, endosome, cytoplasm, GO:0070300, GO:0045296, GO:0042802, GO:0008092, GO:0005543, GO:0005515, GO:0005215, phosphatidic acid binding, cadherin binding, identical protein binding, cytoskeletal protein binding, phospholipid binding, protein binding, transporter activity, GO:0097320, GO:0097320, GO:0097320, GO:0072584, GO:0070836, GO:0061024, GO:0048858, GO:0045806, GO:0036010, GO:0030100, GO:0030036, GO:0007010, plasma membrane tubulation, plasma membrane tubulation, plasma membrane tubulation, caveolin-mediated endocytosis, caveola assembly, membrane organization, cell projection morphogenesis, negative regulation of endocytosis, protein localization to endosome, regulation of endocytosis, actin cytoskeleton organization, cytoskeleton organization, 4507 4706 6482 2066 3503 3344 2521 2977 3111 ENSG00000100271 chr22 43039644 43089428 - TTLL1 protein_coding 25809 GO:0005929, GO:0005874, GO:0005737, GO:0005576, cilium, microtubule, cytoplasm, extracellular region, GO:0070740, GO:0070740, GO:0015631, GO:0005524, tubulin-glutamic acid ligase activity, tubulin-glutamic acid ligase activity, tubulin binding, ATP binding, GO:0120222, GO:0120197, GO:0021702, GO:0018095, GO:0018095, GO:0007288, GO:0002395, GO:0000226, regulation of blastocyst development, mucociliary clearance, cerebellar Purkinje cell differentiation, protein polyglutamylation, protein polyglutamylation, sperm axoneme assembly, immune response in nasopharyngeal-associated lymphoid tissue, microtubule cytoskeleton organization, 3 3 6 3 7 13 7 4 8 ENSG00000100276 chr22 29312933 29319679 - RASL10A protein_coding 10633 GO:0005886, GO:0005730, plasma membrane, nucleolus, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0007264, small GTPase mediated signal transduction, 0 4 1 0 2 1 1 1 0 ENSG00000100280 chr22 29327680 29423179 - AP1B1 protein_coding Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 162 GO:0043231, GO:0032588, GO:0030665, GO:0030659, GO:0030131, GO:0005829, GO:0005829, GO:0005794, GO:0005765, GO:0000139, intracellular membrane-bounded organelle, trans-Golgi network membrane, clathrin-coated vesicle membrane, cytoplasmic vesicle membrane, clathrin adaptor complex, cytosol, cytosol, Golgi apparatus, lysosomal membrane, Golgi membrane, GO:0030276, GO:0019901, GO:0005515, clathrin binding, protein kinase binding, protein binding, GO:0050690, GO:0019886, GO:0016192, GO:0007507, GO:0007368, GO:0006886, GO:0001822, regulation of defense response to virus by virus, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, heart development, determination of left/right symmetry, intracellular protein transport, kidney development, 184 183 232 231 207 256 203 174 174 ENSG00000100281 chr22 35257452 35295807 + HMGXB4 protein_coding High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]. 10042 GO:0016589, NURF complex, GO:0042802, GO:0005515, GO:0003677, identical protein binding, protein binding, DNA binding, GO:0030178, GO:0016055, GO:0008333, negative regulation of Wnt signaling pathway, Wnt signaling pathway, endosome to lysosome transport, 237 185 363 127 120 94 97 94 94 ENSG00000100284 chr22 35299275 35347994 + TOM1 protein_coding This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 10043 GO:0070062, GO:0035579, GO:0035577, GO:0016020, GO:0016020, GO:0005886, GO:0005829, GO:0005769, GO:0005768, GO:0005768, GO:0005737, extracellular exosome, specific granule membrane, azurophil granule membrane, membrane, membrane, plasma membrane, cytosol, early endosome, endosome, endosome, cytoplasm, GO:0030276, GO:0030276, GO:0005515, clathrin binding, clathrin binding, protein binding, GO:0043312, GO:0016197, GO:0016197, GO:0015031, GO:0007165, GO:0006897, GO:0006886, neutrophil degranulation, endosomal transport, endosomal transport, protein transport, signal transduction, endocytosis, intracellular protein transport, 2169 2654 4513 754 1653 1443 1040 1417 1368 ENSG00000100285 chr22 29480230 29491390 + NEFH protein_coding Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]. 4744 GO:0099160, GO:0098685, GO:0097418, GO:0030424, GO:0014069, GO:0005883, GO:0005856, GO:0005737, GO:0005737, postsynaptic intermediate filament cytoskeleton, Schaffer collateral - CA1 synapse, neurofibrillary tangle, axon, postsynaptic density, neurofilament, cytoskeleton, cytoplasm, cytoplasm, GO:0099184, GO:0070840, GO:0030674, GO:0019901, GO:0019894, GO:0008017, GO:0005515, GO:0005200, GO:0005200, structural constituent of postsynaptic intermediate filament cytoskeleton, dynein complex binding, protein-macromolecule adaptor activity, protein kinase binding, kinesin binding, microtubule binding, protein binding, structural constituent of cytoskeleton, structural constituent of cytoskeleton, GO:1990830, GO:1902513, GO:0099185, GO:0061564, GO:0060052, GO:0048936, GO:0033693, GO:0030031, GO:0007409, GO:0000226, cellular response to leukemia inhibitory factor, regulation of organelle transport along microtubule, postsynaptic intermediate filament cytoskeleton organization, axon development, neurofilament cytoskeleton organization, peripheral nervous system neuron axonogenesis, neurofilament bundle assembly, cell projection assembly, axonogenesis, microtubule cytoskeleton organization, 3 1 7 15 0 13 14 7 22 ENSG00000100288 chr22 50578949 50601455 - CHKB protein_coding Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]. 1120 GO:0005829, cytosol, GO:0005524, GO:0004305, GO:0004103, ATP binding, ethanolamine kinase activity, choline kinase activity, GO:0016310, GO:0006657, GO:0006656, GO:0006646, GO:0006646, GO:0006646, phosphorylation, CDP-choline pathway, phosphatidylcholine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, 16 23 42 27 14 51 34 26 39 ENSG00000100290 chr22 43110748 43129712 + BIK protein_coding The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]. 638 GO:0031966, GO:0016021, GO:0012505, mitochondrial membrane, integral component of membrane, endomembrane system, GO:0005515, protein binding, GO:0090200, GO:0031334, GO:0008637, GO:0008584, GO:0006915, positive regulation of release of cytochrome c from mitochondria, positive regulation of protein-containing complex assembly, apoptotic mitochondrial changes, male gonad development, apoptotic process, 20 14 30 8 10 3 5 4 27 ENSG00000100292 chr22 35380361 35394214 + HMOX1 protein_coding Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]. 3162 GO:0048471, GO:0016020, GO:0005901, GO:0005829, GO:0005789, GO:0005783, GO:0005783, GO:0005730, GO:0005634, GO:0005615, perinuclear region of cytoplasm, membrane, caveola, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nucleolus, nucleus, extracellular space, GO:0046872, GO:0042803, GO:0042802, GO:0020037, GO:0020037, GO:0019899, GO:0005515, GO:0005198, GO:0004630, GO:0004392, GO:0004392, GO:0004392, metal ion binding, protein homodimerization activity, identical protein binding, heme binding, heme binding, enzyme binding, protein binding, structural molecule activity, phospholipase D activity, heme oxygenase (decyclizing) activity, heme oxygenase (decyclizing) activity, heme oxygenase (decyclizing) activity, GO:1904706, GO:1904036, GO:1903589, GO:1902042, GO:0097755, GO:0097421, GO:0090050, GO:0072719, GO:0071456, GO:0071276, GO:0071243, GO:0055072, GO:0055072, GO:0055072, GO:0051090, GO:0048662, GO:0048661, GO:0045766, GO:0045765, GO:0043627, GO:0043619, GO:0043524, GO:0043433, GO:0043392, GO:0043305, GO:0043123, GO:0043065, GO:0042542, GO:0042493, GO:0042167, GO:0042167, GO:0042167, GO:0035556, GO:0035094, GO:0034605, GO:0034395, GO:0034383, GO:0034101, GO:0032764, GO:0032722, GO:0031670, GO:0019221, GO:0016242, GO:0016239, GO:0014806, GO:0010656, GO:0008630, GO:0008219, GO:0008217, GO:0007588, GO:0007264, GO:0006979, GO:0006979, GO:0006879, GO:0006879, GO:0006788, GO:0006788, GO:0002686, GO:0002246, GO:0001935, GO:0001525, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of epithelial cell apoptotic process, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of blood vessel diameter, liver regeneration, positive regulation of cell migration involved in sprouting angiogenesis, cellular response to cisplatin, cellular response to hypoxia, cellular response to cadmium ion, cellular response to arsenic-containing substance, iron ion homeostasis, iron ion homeostasis, iron ion homeostasis, regulation of DNA-binding transcription factor activity, negative regulation of smooth muscle cell proliferation, positive regulation of smooth muscle cell proliferation, positive regulation of angiogenesis, regulation of angiogenesis, response to estrogen, regulation of transcription from RNA polymerase II promoter in response to oxidative stress, negative regulation of neuron apoptotic process, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA binding, negative regulation of mast cell degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, response to hydrogen peroxide, response to drug, heme catabolic process, heme catabolic process, heme catabolic process, intracellular signal transduction, response to nicotine, cellular response to heat, regulation of transcription from RNA polymerase II promoter in response to iron, low-density lipoprotein particle clearance, erythrocyte homeostasis, negative regulation of mast cell cytokine production, positive regulation of chemokine production, cellular response to nutrient, cytokine-mediated signaling pathway, negative regulation of macroautophagy, positive regulation of macroautophagy, smooth muscle hyperplasia, negative regulation of muscle cell apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage, cell death, regulation of blood pressure, excretion, small GTPase mediated signal transduction, response to oxidative stress, response to oxidative stress, cellular iron ion homeostasis, cellular iron ion homeostasis, heme oxidation, heme oxidation, negative regulation of leukocyte migration, wound healing involved in inflammatory response, endothelial cell proliferation, angiogenesis, 132 676 392 905 2729 1396 658 1965 788 ENSG00000100294 chr22 43132206 43143394 - MCAT protein_coding The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]. 27349 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0004314, GO:0004314, GO:0004314, GO:0004312, GO:0003723, [acyl-carrier-protein] S-malonyltransferase activity, [acyl-carrier-protein] S-malonyltransferase activity, [acyl-carrier-protein] S-malonyltransferase activity, fatty acid synthase activity, RNA binding, GO:0006635, GO:0006633, GO:0006633, GO:0006633, fatty acid beta-oxidation, fatty acid biosynthetic process, fatty acid biosynthetic process, fatty acid biosynthetic process, 144 140 169 28 86 61 38 63 103 ENSG00000100296 chr22 29505879 29555216 - THOC5 protein_coding 8563 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000781, GO:0000445, GO:0000445, GO:0000347, GO:0000346, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, THO complex part of transcription export complex, THO complex part of transcription export complex, THO complex, transcription export complex, GO:0005515, GO:0003729, protein binding, mRNA binding, GO:2000002, GO:0060215, GO:0046784, GO:0032786, GO:0032786, GO:0031124, GO:0030224, GO:0008380, GO:0006406, GO:0006406, GO:0006406, GO:0006405, negative regulation of DNA damage checkpoint, primitive hemopoiesis, viral mRNA export from host cell nucleus, positive regulation of DNA-templated transcription, elongation, positive regulation of DNA-templated transcription, elongation, mRNA 3'-end processing, monocyte differentiation, RNA splicing, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 746 622 715 581 834 717 612 687 675 ENSG00000100297 chr22 35400063 35425430 + MCM5 protein_coding The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]. 4174 GO:0071162, GO:0042555, GO:0042555, GO:0016020, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000781, CMG complex, MCM complex, MCM complex, membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0043138, GO:0017116, GO:0005524, GO:0005515, GO:0003697, GO:0003688, 3'-5' DNA helicase activity, single-stranded DNA helicase activity, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, GO:0032508, GO:0006270, GO:0006267, GO:0006260, GO:0000727, GO:0000082, DNA duplex unwinding, DNA replication initiation, pre-replicative complex assembly involved in nuclear cell cycle DNA replication, DNA replication, double-strand break repair via break-induced replication, G1/S transition of mitotic cell cycle, 127 295 198 156 312 148 156 229 165 ENSG00000100298 chr22 39097224 39104067 + APOBEC3H protein_coding This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. 164668 GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000932, GO:0000932, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, P-body, P-body, GO:0047844, GO:0008270, GO:0005515, GO:0004126, GO:0004126, GO:0003723, deoxycytidine deaminase activity, zinc ion binding, protein binding, cytidine deaminase activity, cytidine deaminase activity, RNA binding, GO:0080111, GO:0070383, GO:0070383, GO:0051607, GO:0051607, GO:0048525, GO:0045869, GO:0045869, GO:0045087, GO:0016554, GO:0010529, GO:0010529, GO:0010529, GO:0009972, DNA demethylation, DNA cytosine deamination, DNA cytosine deamination, defense response to virus, defense response to virus, negative regulation of viral process, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, innate immune response, cytidine to uridine editing, negative regulation of transposition, negative regulation of transposition, negative regulation of transposition, cytidine deamination, 2 6 5 18 4 16 4 1 8 ENSG00000100299 chr22 50622754 50628173 - ARSA protein_coding The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]. 410 GO:0070062, GO:0043202, GO:0035578, GO:0005788, GO:0005764, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, endoplasmic reticulum lumen, lysosome, extracellular region, GO:0008484, GO:0005515, GO:0005509, GO:0004098, GO:0004065, sulfuric ester hydrolase activity, protein binding, calcium ion binding, cerebroside-sulfatase activity, arylsulfatase activity, GO:0043312, GO:0006687, neutrophil degranulation, glycosphingolipid metabolic process, 947 890 1155 689 864 877 754 673 864 ENSG00000100300 chr22 43151514 43163242 + TSPO protein_coding Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]. 706 GO:0070062, GO:0016021, GO:0005783, GO:0005741, extracellular exosome, integral component of membrane, endoplasmic reticulum, mitochondrial outer membrane, GO:0044325, GO:0015485, GO:0015485, GO:0008503, GO:0005515, GO:0005497, ion channel binding, cholesterol binding, cholesterol binding, benzodiazepine receptor activity, protein binding, androgen binding, GO:2000379, GO:1903579, GO:1903147, GO:0072656, GO:0071476, GO:0071294, GO:0071222, GO:0060253, GO:0060252, GO:0060242, GO:0051928, GO:0051901, GO:0050810, GO:0048266, GO:0045019, GO:0043065, GO:0042493, GO:0042127, GO:0033574, GO:0032720, GO:0032570, GO:0032374, GO:0031397, GO:0030325, GO:0014012, GO:0010940, GO:0010266, GO:0010042, GO:0008347, GO:0008202, GO:0007568, GO:0006869, GO:0006821, GO:0006820, GO:0006783, GO:0006700, GO:0006626, positive regulation of reactive oxygen species metabolic process, negative regulation of ATP metabolic process, negative regulation of autophagy of mitochondrion, maintenance of protein location in mitochondrion, cellular hypotonic response, cellular response to zinc ion, cellular response to lipopolysaccharide, negative regulation of glial cell proliferation, positive regulation of glial cell proliferation, contact inhibition, positive regulation of calcium ion transport, positive regulation of mitochondrial depolarization, regulation of steroid biosynthetic process, behavioral response to pain, negative regulation of nitric oxide biosynthetic process, positive regulation of apoptotic process, response to drug, regulation of cell population proliferation, response to testosterone, negative regulation of tumor necrosis factor production, response to progesterone, regulation of cholesterol transport, negative regulation of protein ubiquitination, adrenal gland development, peripheral nervous system axon regeneration, positive regulation of necrotic cell death, response to vitamin B1, response to manganese ion, glial cell migration, steroid metabolic process, aging, lipid transport, chloride transport, anion transport, heme biosynthetic process, C21-steroid hormone biosynthetic process, protein targeting to mitochondrion, 651 676 951 231 485 490 362 451 471 ENSG00000100302 chr22 35540868 35554001 + RASD2 protein_coding This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]. 23551 GO:0045202, GO:0005886, synapse, plasma membrane, GO:0043548, GO:0031681, GO:0031624, GO:0005525, GO:0003924, phosphatidylinositol 3-kinase binding, G-protein beta-subunit binding, ubiquitin conjugating enzyme binding, GTP binding, GTPase activity, GO:0051897, GO:0043949, GO:0033235, GO:0031397, GO:0007626, GO:0007165, GO:0001963, positive regulation of protein kinase B signaling, regulation of cAMP-mediated signaling, positive regulation of protein sumoylation, negative regulation of protein ubiquitination, locomotory behavior, signal transduction, synaptic transmission, dopaminergic, 0 0 0 0 0 0 0 1 0 ENSG00000100304 chr22 43166622 43187133 - TTLL12 protein_coding 23170 GO:0030496, GO:0005819, GO:0005815, GO:0005737, GO:0005634, midbody, spindle, microtubule organizing center, cytoplasm, nucleus, GO:1990889, GO:0018024, GO:0015631, GO:0005524, GO:0005515, GO:0004835, H4K20me3 modified histone binding, histone-lysine N-methyltransferase activity, tubulin binding, ATP binding, protein binding, tubulin-tyrosine ligase activity, GO:0070510, GO:0060339, GO:0045087, GO:0034968, GO:0007346, regulation of histone H4-K20 methylation, negative regulation of type I interferon-mediated signaling pathway, innate immune response, histone lysine methylation, regulation of mitotic cell cycle, 100 120 136 67 107 95 102 83 83 ENSG00000100307 chr22 39120167 39152674 - CBX7 protein_coding This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]. 23492 GO:0035102, GO:0031519, GO:0031519, GO:0005829, GO:0005654, GO:0005634, GO:0000785, PRC1 complex, PcG protein complex, PcG protein complex, cytosol, nucleoplasm, nucleus, chromatin, GO:0005515, protein binding, GO:0006325, GO:0000122, GO:0000122, chromatin organization, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1186 1295 1404 1101 1586 1331 1256 1197 1290 ENSG00000100311 chr22 39223359 39244751 - PDGFB protein_coding This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 5155 GO:0062023, GO:0031093, GO:0016323, GO:0009986, GO:0005796, GO:0005788, GO:0005737, GO:0005615, GO:0005576, GO:0005576, GO:0000139, collagen-containing extracellular matrix, platelet alpha granule lumen, basolateral plasma membrane, cell surface, Golgi lumen, endoplasmic reticulum lumen, cytoplasm, extracellular space, extracellular region, extracellular region, Golgi membrane, GO:0070851, GO:0048407, GO:0046982, GO:0042803, GO:0042802, GO:0042056, GO:0016176, GO:0008083, GO:0005518, GO:0005515, GO:0005161, GO:0005161, GO:0005161, GO:0005161, growth factor receptor binding, platelet-derived growth factor binding, protein heterodimerization activity, protein homodimerization activity, identical protein binding, chemoattractant activity, superoxide-generating NADPH oxidase activator activity, growth factor activity, collagen binding, protein binding, platelet-derived growth factor receptor binding, platelet-derived growth factor receptor binding, platelet-derived growth factor receptor binding, platelet-derived growth factor receptor binding, GO:2000591, GO:2000573, GO:2000379, GO:1905176, GO:1905064, GO:1904754, GO:1904707, GO:1902895, GO:1902894, GO:1900127, GO:0090280, GO:0072593, GO:0072255, GO:0072126, GO:0071506, GO:0071363, GO:0070528, GO:0070374, GO:0070374, GO:0061098, GO:0060326, GO:0051897, GO:0051781, GO:0050921, GO:0050918, GO:0050731, GO:0048661, GO:0048146, GO:0048016, GO:0048008, GO:0048008, GO:0045893, GO:0045892, GO:0045840, GO:0045737, GO:0043552, GO:0043536, GO:0043410, GO:0043406, GO:0043406, GO:0038001, GO:0035793, GO:0035655, GO:0032148, GO:0032147, GO:0032091, GO:0031954, GO:0031954, GO:0030335, GO:0030335, GO:0030198, GO:0030097, GO:0018108, GO:0018105, GO:0014911, GO:0014068, GO:0014068, GO:0010811, GO:0010629, GO:0010628, GO:0010544, GO:0010512, GO:0009611, GO:0009611, GO:0008284, GO:0008284, GO:0007507, GO:0006468, GO:0003104, GO:0002576, GO:0002548, GO:0001938, GO:0001892, GO:0000165, positive regulation of metanephric mesenchymal cell migration, positive regulation of DNA biosynthetic process, positive regulation of reactive oxygen species metabolic process, positive regulation of vascular associated smooth muscle cell dedifferentiation, negative regulation of vascular associated smooth muscle cell differentiation, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of pri-miRNA transcription by RNA polymerase II, negative regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of hyaluronan biosynthetic process, positive regulation of calcium ion import, reactive oxygen species metabolic process, metanephric glomerular mesangial cell development, positive regulation of glomerular mesangial cell proliferation, cellular response to mycophenolic acid, cellular response to growth factor stimulus, protein kinase C signaling, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein tyrosine kinase activity, cell chemotaxis, positive regulation of protein kinase B signaling, positive regulation of cell division, positive regulation of chemotaxis, positive chemotaxis, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of smooth muscle cell proliferation, positive regulation of fibroblast proliferation, inositol phosphate-mediated signaling, platelet-derived growth factor receptor signaling pathway, platelet-derived growth factor receptor signaling pathway, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of mitotic nuclear division, positive regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of blood vessel endothelial cell migration, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, positive regulation of MAP kinase activity, paracrine signaling, positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway, interleukin-18-mediated signaling pathway, activation of protein kinase B activity, activation of protein kinase activity, negative regulation of protein binding, positive regulation of protein autophosphorylation, positive regulation of protein autophosphorylation, positive regulation of cell migration, positive regulation of cell migration, extracellular matrix organization, hemopoiesis, peptidyl-tyrosine phosphorylation, peptidyl-serine phosphorylation, positive regulation of smooth muscle cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of cell-substrate adhesion, negative regulation of gene expression, positive regulation of gene expression, negative regulation of platelet activation, negative regulation of phosphatidylinositol biosynthetic process, response to wounding, response to wounding, positive regulation of cell population proliferation, positive regulation of cell population proliferation, heart development, protein phosphorylation, positive regulation of glomerular filtration, platelet degranulation, monocyte chemotaxis, positive regulation of endothelial cell proliferation, embryonic placenta development, MAPK cascade, 14 1 14 22 2 23 19 2 22 ENSG00000100312 chr22 50738196 50745334 + ACR protein_coding Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]. 49 GO:0043159, GO:0032991, GO:0005798, GO:0005634, GO:0005576, acrosomal matrix, protein-containing complex, Golgi-associated vesicle, nucleus, extracellular region, GO:0042806, GO:0008270, GO:0008236, GO:0005537, GO:0005515, GO:0005507, GO:0004252, GO:0004252, GO:0004040, GO:0003677, GO:0002020, fucose binding, zinc ion binding, serine-type peptidase activity, mannose binding, protein binding, copper ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, amidase activity, DNA binding, protease binding, GO:0048545, GO:0007341, GO:0007340, GO:0007340, GO:0007340, GO:0007339, GO:0007338, GO:0007190, GO:0002077, response to steroid hormone, penetration of zona pellucida, acrosome reaction, acrosome reaction, acrosome reaction, binding of sperm to zona pellucida, single fertilization, activation of adenylate cyclase activity, acrosome matrix dispersal, 0 0 0 0 0 0 0 0 0 ENSG00000100314 chr22 29720084 29731839 + CABP7 protein_coding 164633 GO:0048471, GO:0032588, GO:0016021, GO:0005886, perinuclear region of cytoplasm, trans-Golgi network membrane, integral component of membrane, plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, 41 32 48 47 69 26 26 44 50 ENSG00000100316 chr22 39312882 39320389 - RPL3 protein_coding Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6122 GO:0070062, GO:0045202, GO:0032991, GO:0022625, GO:0022625, GO:0005925, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005730, GO:0005634, extracellular exosome, synapse, protein-containing complex, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, focal adhesion, cytosol, cytosol, cytoplasm, nucleolus, nucleolus, nucleus, GO:0008097, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, 5S rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0071353, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, GO:0000027, cellular response to interleukin-4, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal large subunit assembly, 1805 1319 3293 6536 2674 7074 4999 2193 4902 ENSG00000100319 chr22 29730956 29767011 - ZMAT5 protein_coding 55954 GO:0005689, GO:0005689, GO:0005654, GO:0005654, U12-type spliceosomal complex, U12-type spliceosomal complex, nucleoplasm, nucleoplasm, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0008380, GO:0000398, RNA splicing, mRNA splicing, via spliceosome, 96 83 141 64 128 77 58 104 104 ENSG00000100320 chr22 35738736 36028425 - RBFOX2 protein_coding This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 23543 GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0008134, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003714, transcription factor binding, protein binding, mRNA binding, RNA binding, RNA binding, transcription corepressor activity, GO:0050885, GO:0048813, GO:0045892, GO:0042127, GO:0030520, GO:0021942, GO:0016070, GO:0010724, GO:0008543, GO:0008380, GO:0007399, GO:0006397, GO:0000381, GO:0000381, neuromuscular process controlling balance, dendrite morphogenesis, negative regulation of transcription, DNA-templated, regulation of cell population proliferation, intracellular estrogen receptor signaling pathway, radial glia guided migration of Purkinje cell, RNA metabolic process, regulation of definitive erythrocyte differentiation, fibroblast growth factor receptor signaling pathway, RNA splicing, nervous system development, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 1 0 ENSG00000100321 chr22 39349925 39385588 + SYNGR1 protein_coding This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008]. 9145 GO:0042470, GO:0035577, GO:0031594, GO:0030672, GO:0030285, GO:0005886, melanosome, azurophil granule membrane, neuromuscular junction, synaptic vesicle membrane, integral component of synaptic vesicle membrane, plasma membrane, GO:0005515, protein binding, GO:1990830, GO:0048499, GO:0048172, GO:0048169, GO:0045055, GO:0043312, GO:0006605, cellular response to leukemia inhibitory factor, synaptic vesicle membrane organization, regulation of short-term neuronal synaptic plasticity, regulation of long-term neuronal synaptic plasticity, regulated exocytosis, neutrophil degranulation, protein targeting, 5 8 7 18 14 29 7 10 7 ENSG00000100324 chr22 39399741 39437060 + TAB1 protein_coding The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 10454 GO:0016607, GO:0010008, GO:0005829, GO:0005829, GO:0005829, GO:0005634, nuclear speck, endosome membrane, cytosol, cytosol, cytosol, nucleus, GO:0019209, GO:0008047, GO:0005515, GO:0004724, kinase activator activity, enzyme activator activity, protein binding, magnesium-dependent protein serine/threonine phosphatase activity, GO:0070498, GO:0070423, GO:0060976, GO:0051092, GO:0038095, GO:0035904, GO:0030324, GO:0016579, GO:0007254, GO:0007249, GO:0007179, GO:0006470, GO:0006470, GO:0006469, GO:0003279, GO:0003007, GO:0002755, GO:0002223, GO:0001701, GO:0000187, GO:0000185, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, coronary vasculature development, positive regulation of NF-kappaB transcription factor activity, Fc-epsilon receptor signaling pathway, aorta development, lung development, protein deubiquitination, JNK cascade, I-kappaB kinase/NF-kappaB signaling, transforming growth factor beta receptor signaling pathway, protein dephosphorylation, protein dephosphorylation, negative regulation of protein kinase activity, cardiac septum development, heart morphogenesis, MyD88-dependent toll-like receptor signaling pathway, stimulatory C-type lectin receptor signaling pathway, in utero embryonic development, activation of MAPK activity, activation of MAPKKK activity, 18 36 61 76 30 97 38 33 34 ENSG00000100325 chr22 29788608 29838304 - ASCC2 protein_coding 84164 GO:0099053, GO:0016607, GO:0005654, GO:0005634, activating signal cointegrator 1 complex, nuclear speck, nucleoplasm, nucleus, GO:0043130, GO:0005515, ubiquitin binding, protein binding, GO:0006355, GO:0006355, GO:0006307, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, DNA dealkylation involved in DNA repair, 229 278 312 301 317 331 292 247 296 ENSG00000100330 chr22 29883155 30030866 + MTMR3 protein_coding This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8897 GO:0019898, GO:0016020, GO:0016020, GO:0005829, GO:0005737, GO:0005737, extrinsic component of membrane, membrane, membrane, cytosol, cytoplasm, cytoplasm, GO:0052629, GO:0052629, GO:0046872, GO:0019903, GO:0019903, GO:0005515, GO:0004725, GO:0004722, GO:0004438, GO:0004438, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, metal ion binding, protein phosphatase binding, protein phosphatase binding, protein binding, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, phosphatidylinositol-3-phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:2000785, GO:1904562, GO:0060304, GO:0046856, GO:0046856, GO:0042149, GO:0035335, GO:0016236, GO:0010506, GO:0006661, GO:0006470, regulation of autophagosome assembly, phosphatidylinositol 5-phosphate metabolic process, regulation of phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, cellular response to glucose starvation, peptidyl-tyrosine dephosphorylation, macroautophagy, regulation of autophagy, phosphatidylinositol biosynthetic process, protein dephosphorylation, 4208 4522 5652 2874 4088 3809 3117 2945 3032 ENSG00000100335 chr22 39499432 39518132 + MIEF1 protein_coding 54471 GO:0016021, GO:0005777, GO:0005741, GO:0005741, GO:0005739, integral component of membrane, peroxisome, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, GO:0043531, GO:0042802, GO:0019003, GO:0005515, ADP binding, identical protein binding, GDP binding, protein binding, GO:0090314, GO:0090314, GO:0090141, GO:0090141, GO:0090141, GO:0008053, GO:0000266, positive regulation of protein targeting to membrane, positive regulation of protein targeting to membrane, positive regulation of mitochondrial fission, positive regulation of mitochondrial fission, positive regulation of mitochondrial fission, mitochondrial fusion, mitochondrial fission, 41 57 59 54 47 82 55 49 49 ENSG00000100336 chr22 36189124 36204840 - APOL4 protein_coding This gene encodes a member of the apolipoprotein L family. The encoded protein may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2020]. 80832 GO:0043231, GO:0005615, intracellular membrane-bounded organelle, extracellular space, GO:0008289, GO:0003674, lipid binding, molecular_function, GO:0042157, GO:0006869, GO:0006629, lipoprotein metabolic process, lipid transport, lipid metabolic process, 7 2 2 3 8 0 0 5 0 ENSG00000100341 chr22 43879678 43892013 - PNPLA5 protein_coding This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]. 150379 GO:0016020, GO:0005829, GO:0005811, GO:0005737, membrane, cytosol, lipid droplet, cytoplasm, GO:0005515, GO:0004806, GO:0004806, protein binding, triglyceride lipase activity, triglyceride lipase activity, GO:0055088, GO:0019433, GO:0019433, lipid homeostasis, triglyceride catabolic process, triglyceride catabolic process, 0 0 0 3 0 0 0 0 0 ENSG00000100342 chr22 36253010 36267530 + APOL1 protein_coding This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. 8542 GO:0072562, GO:0034364, GO:0034361, GO:0031224, GO:0005788, GO:0005615, GO:0005576, blood microparticle, high-density lipoprotein particle, very-low-density lipoprotein particle, intrinsic component of membrane, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0008289, GO:0008289, GO:0005515, GO:0005254, lipid binding, lipid binding, protein binding, chloride channel activity, GO:1902476, GO:0051838, GO:0045087, GO:0044267, GO:0043687, GO:0042157, GO:0008203, GO:0006898, GO:0006869, chloride transmembrane transport, cytolysis by host of symbiont cells, innate immune response, cellular protein metabolic process, post-translational protein modification, lipoprotein metabolic process, cholesterol metabolic process, receptor-mediated endocytosis, lipid transport, 856 604 727 390 497 507 518 379 332 ENSG00000100344 chr22 43923739 43964488 + PNPLA3 protein_coding The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]. 80339 GO:0016021, GO:0016020, GO:0016020, GO:0016020, GO:0005811, GO:0005811, GO:0005789, GO:0005737, integral component of membrane, membrane, membrane, membrane, lipid droplet, lipid droplet, endoplasmic reticulum membrane, cytoplasm, GO:0051265, GO:0051264, GO:0042171, GO:0036042, GO:0035727, GO:0004806, GO:0004806, GO:0004623, GO:0003841, diolein transacylation activity, mono-olein transacylation activity, lysophosphatidic acid acyltransferase activity, long-chain fatty acyl-CoA binding, lysophosphatidic acid binding, triglyceride lipase activity, triglyceride lipase activity, phospholipase A2 activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:1905243, GO:0055088, GO:0050872, GO:0036155, GO:0036153, GO:0034389, GO:0032869, GO:0019433, GO:0019433, GO:0019432, GO:0009744, GO:0006654, GO:0006650, GO:0001676, cellular response to 3,3',5-triiodo-L-thyronine, lipid homeostasis, white fat cell differentiation, acylglycerol acyl-chain remodeling, triglyceride acyl-chain remodeling, lipid droplet organization, cellular response to insulin stimulus, triglyceride catabolic process, triglyceride catabolic process, triglyceride biosynthetic process, response to sucrose, phosphatidic acid biosynthetic process, glycerophospholipid metabolic process, long-chain fatty acid metabolic process, 0 0 0 0 3 0 0 0 0 ENSG00000100345 chr22 36281277 36388067 - MYH9 protein_coding This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]. 4627 GO:0097513, GO:0070062, GO:0042641, GO:0032991, GO:0032154, GO:0031594, GO:0031252, GO:0016460, GO:0016020, GO:0015629, GO:0008180, GO:0005925, GO:0005912, GO:0005903, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005826, GO:0005819, GO:0005737, GO:0005634, GO:0001931, GO:0001772, GO:0001726, GO:0001725, myosin II filament, extracellular exosome, actomyosin, protein-containing complex, cleavage furrow, neuromuscular junction, cell leading edge, myosin II complex, membrane, actin cytoskeleton, COP9 signalosome, focal adhesion, adherens junction, brush border, plasma membrane, plasma membrane, cytosol, cytosol, actomyosin contractile ring, spindle, cytoplasm, nucleus, uropod, immunological synapse, ruffle, stress fiber, GO:0051015, GO:0051015, GO:0051015, GO:0045296, GO:0043531, GO:0043495, GO:0042803, GO:0042802, GO:0030898, GO:0030898, GO:0019904, GO:0016887, GO:0005524, GO:0005516, GO:0005515, GO:0005178, GO:0003779, GO:0003774, GO:0003723, GO:0000146, actin filament binding, actin filament binding, actin filament binding, cadherin binding, ADP binding, protein-membrane adaptor activity, protein homodimerization activity, identical protein binding, actin-dependent ATPase activity, actin-dependent ATPase activity, protein domain specific binding, ATPase activity, ATP binding, calmodulin binding, protein binding, integrin binding, actin binding, motor activity, RNA binding, microfilament motor activity, GO:1905684, GO:1903923, GO:1903919, GO:1903919, GO:0070527, GO:0051295, GO:0050900, GO:0045055, GO:0043534, GO:0032796, GO:0032506, GO:0032418, GO:0031532, GO:0031032, GO:0030224, GO:0030220, GO:0030048, GO:0015031, GO:0008360, GO:0007520, GO:0007229, GO:0006911, GO:0006509, GO:0001778, GO:0001768, GO:0001701, GO:0001525, GO:0000212, regulation of plasma membrane repair, positive regulation of protein processing in phagocytic vesicle, negative regulation of actin filament severing, negative regulation of actin filament severing, platelet aggregation, establishment of meiotic spindle localization, leukocyte migration, regulated exocytosis, blood vessel endothelial cell migration, uropod organization, cytokinetic process, lysosome localization, actin cytoskeleton reorganization, actomyosin structure organization, monocyte differentiation, platelet formation, actin filament-based movement, protein transport, regulation of cell shape, myoblast fusion, integrin-mediated signaling pathway, phagocytosis, engulfment, membrane protein ectodomain proteolysis, plasma membrane repair, establishment of T cell polarity, in utero embryonic development, angiogenesis, meiotic spindle organization, 20784 27472 32864 8605 13032 13064 10167 11436 11417 ENSG00000100346 chr22 39570753 39689737 + CACNA1I protein_coding This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]. 8911 GO:0043005, GO:0005891, GO:0001518, neuron projection, voltage-gated calcium channel complex, voltage-gated sodium channel complex, GO:0008332, GO:0005515, GO:0005248, GO:0005245, low voltage-gated calcium channel activity, protein binding, voltage-gated sodium channel activity, voltage-gated calcium channel activity, GO:0086010, GO:0070588, GO:0070509, GO:0045956, GO:0035725, GO:0034765, GO:0030431, GO:0030317, GO:0019228, GO:0007165, membrane depolarization during action potential, calcium ion transmembrane transport, calcium ion import, positive regulation of calcium ion-dependent exocytosis, sodium ion transmembrane transport, regulation of ion transmembrane transport, sleep, flagellated sperm motility, neuronal action potential, signal transduction, 18 21 30 50 18 48 53 17 25 ENSG00000100347 chr22 43955421 44010531 + SAMM50 protein_coding This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]. 25813 GO:0140275, GO:0070062, GO:0016021, GO:0016021, GO:0005741, GO:0005739, GO:0005739, GO:0001401, GO:0001401, GO:0001401, MIB complex, extracellular exosome, integral component of membrane, integral component of membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, SAM complex, SAM complex, SAM complex, GO:0005515, protein binding, GO:0045040, GO:0045040, GO:0042407, GO:0034622, GO:0033108, GO:0033108, GO:0007007, protein insertion into mitochondrial outer membrane, protein insertion into mitochondrial outer membrane, cristae formation, cellular protein-containing complex assembly, mitochondrial respiratory chain complex assembly, mitochondrial respiratory chain complex assembly, inner mitochondrial membrane organization, 18 7 41 52 32 66 31 20 43 ENSG00000100348 chr22 36467036 36482030 - TXN2 protein_coding This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008]. 25828 GO:0043025, GO:0030425, GO:0005759, GO:0005739, GO:0005730, neuronal cell body, dendrite, mitochondrial matrix, mitochondrion, nucleolus, GO:0044877, GO:0033743, GO:0015035, GO:0008113, GO:0005515, protein-containing complex binding, peptide-methionine (R)-S-oxide reductase activity, protein disulfide oxidoreductase activity, peptide-methionine (S)-S-oxide reductase activity, protein binding, GO:0055114, GO:0048678, GO:0045454, GO:0042493, GO:0031669, GO:0014070, GO:0009749, GO:0009725, GO:0006979, GO:0006662, GO:0001666, GO:0000098, oxidation-reduction process, response to axon injury, cell redox homeostasis, response to drug, cellular response to nutrient levels, response to organic cyclic compound, response to glucose, response to hormone, response to oxidative stress, glycerol ether metabolic process, response to hypoxia, sulfur amino acid catabolic process, 175 183 203 121 150 199 182 136 128 ENSG00000100350 chr22 36487190 36507101 - FOXRED2 protein_coding 80020 GO:0005788, GO:0005788, endoplasmic reticulum lumen, endoplasmic reticulum lumen, GO:0050660, GO:0016491, GO:0005515, flavin adenine dinucleotide binding, oxidoreductase activity, protein binding, GO:0055114, GO:0030433, GO:0030433, oxidation-reduction process, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, 2 2 4 9 4 10 6 3 5 ENSG00000100351 chr22 39901082 39973721 + GRAP2 protein_coding This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. 9402 GO:0005886, GO:0005829, GO:0005829, GO:0005768, GO:0005737, GO:0005654, GO:0005634, plasma membrane, cytosol, cytosol, endosome, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0050852, GO:0038095, GO:0031295, GO:0007267, GO:0007265, T cell receptor signaling pathway, Fc-epsilon receptor signaling pathway, T cell costimulation, cell-cell signaling, Ras protein signal transduction, 49 32 87 204 64 317 197 60 156 ENSG00000100353 chr22 36510850 36529436 - EIF3D protein_coding Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008]. 8664 GO:0071541, GO:0033290, GO:0016282, GO:0016020, GO:0005852, GO:0005852, GO:0005829, eukaryotic translation initiation factor 3 complex, eIF3m, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, membrane, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, GO:0098808, GO:0005515, GO:0003743, GO:0003743, GO:0003723, GO:0003723, mRNA cap binding, protein binding, translation initiation factor activity, translation initiation factor activity, RNA binding, RNA binding, GO:1902416, GO:0075525, GO:0075522, GO:0045727, GO:0006413, GO:0006413, GO:0006413, GO:0006413, GO:0002191, GO:0001732, positive regulation of mRNA binding, viral translational termination-reinitiation, IRES-dependent viral translational initiation, positive regulation of translation, translational initiation, translational initiation, translational initiation, translational initiation, cap-dependent translational initiation, formation of cytoplasmic translation initiation complex, 456 375 481 529 493 578 480 385 421 ENSG00000100354 chr22 40044817 40335808 + TNRC6B protein_coding 23112 GO:0005829, GO:0005654, GO:0000932, cytosol, nucleoplasm, P-body, GO:0005515, GO:0003723, protein binding, RNA binding, GO:1905618, GO:1900153, GO:0060213, GO:0060213, GO:0045652, GO:0035278, GO:0035195, GO:0035194, GO:0031047, GO:0010629, GO:0010628, GO:0007223, positive regulation of miRNA mediated inhibition of translation, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, regulation of megakaryocyte differentiation, miRNA mediated inhibition of translation, gene silencing by miRNA, post-transcriptional gene silencing by RNA, gene silencing by RNA, negative regulation of gene expression, positive regulation of gene expression, Wnt signaling pathway, calcium modulating pathway, 2700 3132 3696 1557 2792 2536 2129 1875 2173 ENSG00000100359 chr22 40370591 40410289 + SGSM3 protein_coding 27352 GO:0005921, GO:0005829, gap junction, cytosol, GO:0031267, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902017, GO:0090630, GO:0048227, GO:0045732, GO:0043547, GO:0032486, GO:0032483, GO:0007050, GO:0006886, regulation of cilium assembly, activation of GTPase activity, plasma membrane to endosome transport, positive regulation of protein catabolic process, positive regulation of GTPase activity, Rap protein signal transduction, regulation of Rab protein signal transduction, cell cycle arrest, intracellular protein transport, 9 12 12 15 8 4 4 15 4 ENSG00000100360 chr22 36758202 36776256 - IFT27 protein_coding This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 11020 GO:0097542, GO:0097228, GO:0097225, GO:0036126, GO:0031514, GO:0030992, GO:0030992, GO:0005929, GO:0005929, GO:0005813, GO:0005794, GO:0005737, GO:0000139, ciliary tip, sperm principal piece, sperm midpiece, sperm flagellum, motile cilium, intraciliary transport particle B, intraciliary transport particle B, cilium, cilium, centrosome, Golgi apparatus, cytoplasm, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0090102, GO:0060122, GO:0042073, GO:0042073, GO:0035735, GO:0007283, GO:0007224, GO:0006886, GO:0006886, GO:0001822, cochlea development, inner ear receptor cell stereocilium organization, intraciliary transport, intraciliary transport, intraciliary transport involved in cilium assembly, spermatogenesis, smoothened signaling pathway, intracellular protein transport, intracellular protein transport, kidney development, 31 35 28 98 75 75 61 55 55 ENSG00000100362 chr22 36800684 36819479 - PVALB protein_coding The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 5816 GO:0043025, GO:0032991, GO:0032437, GO:0032420, GO:0030424, GO:0005737, GO:0005634, neuronal cell body, protein-containing complex, cuticular plate, stereocilium, axon, cytoplasm, nucleus, GO:0044877, GO:0042802, GO:0005509, protein-containing complex binding, identical protein binding, calcium ion binding, GO:0090102, cochlea development, 0 0 0 0 0 0 0 0 0 ENSG00000100364 chr22 45190338 45240769 - KIAA0930 protein_coding 23313 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 152 153 271 94 102 142 114 98 154 ENSG00000100365 chr22 36860988 36878015 + NCF4 protein_coding The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 4689 GO:0043020, GO:0043020, GO:0032010, GO:0016020, GO:0010008, GO:0005829, GO:0005829, GO:0005737, NADPH oxidase complex, NADPH oxidase complex, phagolysosome, membrane, endosome membrane, cytosol, cytosol, cytoplasm, GO:0032266, GO:0032266, GO:0016176, GO:0016176, GO:0016175, GO:0005515, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, superoxide-generating NADPH oxidase activator activity, superoxide-generating NADPH oxidase activator activity, superoxide-generating NAD(P)H oxidase activity, protein binding, GO:0055114, GO:0055114, GO:0048010, GO:0045730, GO:0045454, GO:0043085, GO:0034599, GO:0006909, GO:0006801, GO:0002479, oxidation-reduction process, oxidation-reduction process, vascular endothelial growth factor receptor signaling pathway, respiratory burst, cell redox homeostasis, positive regulation of catalytic activity, cellular response to oxidative stress, phagocytosis, superoxide metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 2712 1039 1542 1358 1462 1654 1480 1331 2162 ENSG00000100368 chr22 36913628 36940449 + CSF2RB protein_coding The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]. 1439 GO:0030526, GO:0005887, GO:0005886, granulocyte macrophage colony-stimulating factor receptor complex, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0004914, GO:0004912, signaling receptor activity, protein binding, interleukin-5 receptor activity, interleukin-3 receptor activity, GO:0044267, GO:0038156, GO:0038043, GO:0036016, GO:0032496, GO:0019221, GO:0007585, GO:0007165, GO:0000165, cellular protein metabolic process, interleukin-3-mediated signaling pathway, interleukin-5-mediated signaling pathway, cellular response to interleukin-3, response to lipopolysaccharide, cytokine-mediated signaling pathway, respiratory gaseous exchange by respiratory system, signal transduction, MAPK cascade, 16065 15604 22611 8568 12655 14183 11317 10779 12010 ENSG00000100372 chr22 40769630 40819399 - SLC25A17 protein_coding This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 10478 GO:0016020, GO:0005779, GO:0005779, GO:0005778, GO:0005778, GO:0005777, membrane, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0080122, GO:0080122, GO:0051724, GO:0051724, GO:0051087, GO:0044610, GO:0044610, GO:0015230, GO:0015230, GO:0015228, GO:0015228, GO:0015217, GO:0015217, GO:0005515, GO:0005347, GO:0005347, GO:0000295, AMP transmembrane transporter activity, AMP transmembrane transporter activity, NAD transmembrane transporter activity, NAD transmembrane transporter activity, chaperone binding, FMN transmembrane transporter activity, FMN transmembrane transporter activity, FAD transmembrane transporter activity, FAD transmembrane transporter activity, coenzyme A transmembrane transporter activity, coenzyme A transmembrane transporter activity, ADP transmembrane transporter activity, ADP transmembrane transporter activity, protein binding, ATP transmembrane transporter activity, ATP transmembrane transporter activity, adenine nucleotide transmembrane transporter activity, GO:0080121, GO:0035352, GO:0035350, GO:0035349, GO:0015908, GO:0015867, GO:0015866, GO:0006635, GO:0001561, AMP transport, NAD transmembrane transport, FAD transmembrane transport, coenzyme A transmembrane transport, fatty acid transport, ATP transport, ADP transport, fatty acid beta-oxidation, fatty acid alpha-oxidation, 10 12 19 37 31 60 27 12 31 ENSG00000100373 chr22 45284982 45295874 + UPK3A protein_coding This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]. 7380 GO:0120001, GO:0070062, GO:0016021, GO:0005886, GO:0005789, apical plasma membrane urothelial plaque, extracellular exosome, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0060157, GO:0055078, GO:0055075, GO:0030855, GO:0015840, GO:0006833, GO:0001822, GO:0000902, urinary bladder development, sodium ion homeostasis, potassium ion homeostasis, epithelial cell differentiation, urea transport, water transport, kidney development, cell morphogenesis, 2 7 11 5 6 0 0 4 1 ENSG00000100376 chr22 45308968 45341955 + FAM118A protein_coding 55007 GO:0016021, integral component of membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, 336 122 611 563 160 696 569 84 596 ENSG00000100379 chr22 37051736 37063390 + KCTD17 protein_coding This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]. 79734 GO:0031463, GO:0031463, GO:0005783, GO:0005737, GO:0005737, Cul3-RING ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, endoplasmic reticulum, cytoplasm, cytoplasm, GO:0097602, GO:0097602, GO:0042802, GO:0005515, cullin family protein binding, cullin family protein binding, identical protein binding, protein binding, GO:0051260, GO:0045724, GO:0045724, GO:0043161, GO:0043161, GO:0032469, GO:0030030, protein homooligomerization, positive regulation of cilium assembly, positive regulation of cilium assembly, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, endoplasmic reticulum calcium ion homeostasis, cell projection organization, 7 7 12 13 11 26 17 15 20 ENSG00000100380 chr22 40824535 40857022 - ST13 protein_coding The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]. 6767 GO:0070062, GO:0032991, GO:0005829, GO:0005737, extracellular exosome, protein-containing complex, cytosol, cytoplasm, GO:0051087, GO:0051082, GO:0046983, GO:0044877, GO:0042802, GO:0032564, GO:0031072, GO:0030674, GO:0030544, GO:0019904, GO:0005515, chaperone binding, unfolded protein binding, protein dimerization activity, protein-containing complex binding, identical protein binding, dATP binding, heat shock protein binding, protein-macromolecule adaptor activity, Hsp70 protein binding, protein domain specific binding, protein binding, GO:0065003, GO:0061084, GO:0051085, GO:0009617, GO:0006457, protein-containing complex assembly, negative regulation of protein refolding, chaperone cofactor-dependent protein refolding, response to bacterium, protein folding, 392 340 517 438 355 450 344 259 358 ENSG00000100385 chr22 37125838 37175054 - IL2RB protein_coding The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]. 3560 GO:0016020, GO:0009986, GO:0009986, GO:0009897, GO:0005893, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005768, membrane, cell surface, cell surface, external side of plasma membrane, interleukin-2 receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, endosome, GO:0042010, GO:0019976, GO:0019976, GO:0005515, GO:0004911, GO:0004911, GO:0004911, interleukin-15 receptor activity, interleukin-2 binding, interleukin-2 binding, protein binding, interleukin-2 receptor activity, interleukin-2 receptor activity, interleukin-2 receptor activity, GO:0065003, GO:0050766, GO:0043066, GO:0038110, GO:0038110, GO:0035723, GO:0035723, GO:0019221, GO:0019221, GO:0016032, GO:0007165, GO:0000165, protein-containing complex assembly, positive regulation of phagocytosis, negative regulation of apoptotic process, interleukin-2-mediated signaling pathway, interleukin-2-mediated signaling pathway, interleukin-15-mediated signaling pathway, interleukin-15-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, viral process, signal transduction, MAPK cascade, 158 127 321 379 188 478 382 195 333 ENSG00000100387 chr22 40951347 40973309 + RBX1 protein_coding This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]. 9978 GO:0031467, GO:0031466, GO:0031465, GO:0031464, GO:0031463, GO:0031462, GO:0031461, GO:0031461, GO:0030891, GO:0019005, GO:0019005, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, Cul7-RING ubiquitin ligase complex, Cul5-RING ubiquitin ligase complex, Cul4B-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, VCB complex, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0097602, GO:0097602, GO:0097602, GO:0061663, GO:0061630, GO:0061630, GO:0061630, GO:0044877, GO:0034450, GO:0031625, GO:0019788, GO:0008270, GO:0008134, GO:0005515, GO:0004842, cullin family protein binding, cullin family protein binding, cullin family protein binding, NEDD8 ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein-containing complex binding, ubiquitin-ubiquitin ligase activity, ubiquitin protein ligase binding, NEDD8 transferase activity, zinc ion binding, transcription factor binding, protein binding, ubiquitin-protein transferase activity, GO:1902499, GO:0090090, GO:0070936, GO:0070911, GO:0070498, GO:0061418, GO:0045116, GO:0043687, GO:0043161, GO:0042769, GO:0033683, GO:0032436, GO:0031146, GO:0031146, GO:0031146, GO:0016567, GO:0016567, GO:0016567, GO:0016567, GO:0016055, GO:0016032, GO:0010972, GO:0010265, GO:0006513, GO:0006511, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006283, GO:0000717, GO:0000715, GO:0000209, GO:0000209, GO:0000165, positive regulation of protein autoubiquitination, negative regulation of canonical Wnt signaling pathway, protein K48-linked ubiquitination, global genome nucleotide-excision repair, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, protein neddylation, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, DNA damage response, detection of DNA damage, nucleotide-excision repair, DNA incision, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, protein ubiquitination, protein ubiquitination, Wnt signaling pathway, viral process, negative regulation of G2/M transition of mitotic cell cycle, SCF complex assembly, protein monoubiquitination, ubiquitin-dependent protein catabolic process, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, protein polyubiquitination, protein polyubiquitination, MAPK cascade, 68 71 86 103 57 100 74 69 54 ENSG00000100393 chr22 41091786 41180079 + EP300 protein_coding This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]. 2033 GO:0032993, GO:0005829, GO:0005694, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000123, protein-DNA complex, cytosol, chromosome, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, histone acetyltransferase complex, GO:0140069, GO:0140068, GO:0140065, GO:0097677, GO:0097157, GO:0061920, GO:0061733, GO:0051059, GO:0050681, GO:0048156, GO:0035257, GO:0033613, GO:0031490, GO:0016746, GO:0016407, GO:0016407, GO:0016407, GO:0008270, GO:0008134, GO:0008022, GO:0008013, GO:0005515, GO:0004468, GO:0004402, GO:0004402, GO:0004402, GO:0003713, GO:0003713, GO:0003713, GO:0003713, GO:0003713, GO:0003684, GO:0003682, GO:0003682, GO:0003677, GO:0002039, GO:0001102, GO:0001085, GO:0000978, GO:0000977, histone butyryltransferase activity, histone crotonyltransferase activity, peptide butyryltransferase activity, STAT family protein binding, pre-mRNA intronic binding, protein propionyltransferase activity, peptide-lysine-N-acetyltransferase activity, NF-kappaB binding, androgen receptor binding, tau protein binding, nuclear hormone receptor binding, activating transcription factor binding, chromatin DNA binding, transferase activity, transferring acyl groups, acetyltransferase activity, acetyltransferase activity, acetyltransferase activity, zinc ion binding, transcription factor binding, protein C-terminus binding, beta-catenin binding, protein binding, lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, histone acetyltransferase activity, histone acetyltransferase activity, histone acetyltransferase activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, damaged DNA binding, chromatin binding, chromatin binding, DNA binding, p53 binding, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1905636, GO:1904837, GO:1901796, GO:1901224, GO:1900034, GO:0140067, GO:0140066, GO:0090043, GO:0061921, GO:0061418, GO:0060765, GO:0060325, GO:0051726, GO:0051091, GO:0050821, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045815, GO:0045815, GO:0045747, GO:0045721, GO:0045652, GO:0045444, GO:0043969, GO:0043967, GO:0043923, GO:0043627, GO:0042771, GO:0036268, GO:0035855, GO:0035264, GO:0034644, GO:0032481, GO:0032092, GO:0031648, GO:0031333, GO:0030511, GO:0030324, GO:0030220, GO:0030183, GO:0018394, GO:0018393, GO:0018076, GO:0016579, GO:0016573, GO:0016573, GO:0016032, GO:0010976, GO:0010821, GO:0010742, GO:0010506, GO:0009887, GO:0007623, GO:0007611, GO:0007519, GO:0007507, GO:0007399, GO:0007221, GO:0007219, GO:0006990, GO:0006977, GO:0006915, GO:0006475, GO:0006473, GO:0006473, GO:0006355, GO:0006283, GO:0006110, GO:0002223, GO:0002209, GO:0001966, GO:0001756, GO:0001666, GO:0000122, positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding, beta-catenin-TCF complex assembly, regulation of signal transduction by p53 class mediator, positive regulation of NIK/NF-kappaB signaling, regulation of cellular response to heat, peptidyl-lysine butyrylation, peptidyl-lysine crotonylation, regulation of tubulin deacetylation, peptidyl-lysine propionylation, regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of androgen receptor signaling pathway, face morphogenesis, regulation of cell cycle, positive regulation of DNA-binding transcription factor activity, protein stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of gene expression, epigenetic, positive regulation of gene expression, epigenetic, positive regulation of Notch signaling pathway, negative regulation of gluconeogenesis, regulation of megakaryocyte differentiation, fat cell differentiation, histone H2B acetylation, histone H4 acetylation, positive regulation by host of viral transcription, response to estrogen, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, swimming, megakaryocyte development, multicellular organism growth, cellular response to UV, positive regulation of type I interferon production, positive regulation of protein binding, protein destabilization, negative regulation of protein-containing complex assembly, positive regulation of transforming growth factor beta receptor signaling pathway, lung development, platelet formation, B cell differentiation, peptidyl-lysine acetylation, internal peptidyl-lysine acetylation, N-terminal peptidyl-lysine acetylation, protein deubiquitination, histone acetylation, histone acetylation, viral process, positive regulation of neuron projection development, regulation of mitochondrion organization, macrophage derived foam cell differentiation, regulation of autophagy, animal organ morphogenesis, circadian rhythm, learning or memory, skeletal muscle tissue development, heart development, nervous system development, positive regulation of transcription of Notch receptor target, Notch signaling pathway, positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, apoptotic process, internal protein amino acid acetylation, protein acetylation, protein acetylation, regulation of transcription, DNA-templated, transcription-coupled nucleotide-excision repair, regulation of glycolytic process, stimulatory C-type lectin receptor signaling pathway, behavioral defense response, thigmotaxis, somitogenesis, response to hypoxia, negative regulation of transcription by RNA polymerase II, 7585 7083 9711 2777 3442 3687 3185 2629 2825 ENSG00000100395 chr22 41205205 41231271 + L3MBTL2 protein_coding 83746 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0042393, GO:0035064, GO:0035064, GO:0008270, GO:0005515, GO:0003682, histone binding, histone binding, methylated histone binding, methylated histone binding, zinc ion binding, protein binding, chromatin binding, GO:0070317, GO:0045892, GO:0006325, negative regulation of G0 to G1 transition, negative regulation of transcription, DNA-templated, chromatin organization, 46 43 51 92 40 83 41 50 49 ENSG00000100399 chr22 41229510 41240934 - CHADL protein_coding 150356 GO:0062023, GO:0031012, GO:0005615, collagen-containing extracellular matrix, extracellular matrix, extracellular space, GO:0098633, GO:0030021, GO:0005518, collagen fibril binding, extracellular matrix structural constituent conferring compression resistance, collagen binding, GO:1904027, GO:0032331, negative regulation of collagen fibril organization, negative regulation of chondrocyte differentiation, 1 2 9 8 7 7 0 6 9 ENSG00000100401 chr22 41245611 41286251 - RANGAP1 protein_coding This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 5905 GO:1990723, GO:1904115, GO:0072686, GO:0048471, GO:0044614, GO:0043231, GO:0031965, GO:0030425, GO:0016235, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005643, GO:0005635, GO:0005635, GO:0000777, GO:0000776, cytoplasmic periphery of the nuclear pore complex, axon cytoplasm, mitotic spindle, perinuclear region of cytoplasm, nuclear pore cytoplasmic filaments, intracellular membrane-bounded organelle, nuclear membrane, dendrite, aggresome, cytosol, cytosol, cytoplasm, nucleoplasm, nuclear pore, nuclear envelope, nuclear envelope, condensed chromosome kinetochore, kinetochore, GO:0045296, GO:0031625, GO:0031267, GO:0005515, GO:0005096, GO:0003723, cadherin binding, ubiquitin protein ligase binding, small GTPase binding, protein binding, GTPase activator activity, RNA binding, GO:1904117, GO:0090630, GO:0048678, GO:0046826, GO:0016925, GO:0007165, cellular response to vasopressin, activation of GTPase activity, response to axon injury, negative regulation of protein export from nucleus, protein sumoylation, signal transduction, 88 122 211 166 92 206 149 71 146 ENSG00000100403 chr22 41301522 41360147 + ZC3H7B protein_coding This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]. 23264 GO:0005634, nucleus, GO:0046872, GO:0035198, GO:0035198, GO:0005515, GO:0003723, metal ion binding, miRNA binding, miRNA binding, protein binding, RNA binding, GO:0035196, GO:0035196, GO:0016032, GO:0010608, production of miRNAs involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, viral process, posttranscriptional regulation of gene expression, 67 50 131 130 66 156 98 48 155 ENSG00000100410 chr22 41459717 41468725 - PHF5A protein_coding This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]. 84844 GO:0071011, GO:0071005, GO:0016607, GO:0016363, GO:0005689, GO:0005689, GO:0005686, GO:0005686, GO:0005654, GO:0005654, GO:0005634, precatalytic spliceosome, U2-type precatalytic spliceosome, nuclear speck, nuclear matrix, U12-type spliceosomal complex, U12-type spliceosomal complex, U2 snRNP, U2 snRNP, nucleoplasm, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003723, GO:0003723, GO:0003677, zinc ion binding, protein binding, RNA binding, RNA binding, DNA binding, GO:0048863, GO:0045893, GO:0000398, GO:0000398, GO:0000398, stem cell differentiation, positive regulation of transcription, DNA-templated, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 260 240 269 96 162 156 96 177 129 ENSG00000100412 chr22 41469125 41528989 + ACO2 protein_coding The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]. 50 GO:0005829, GO:0005759, GO:0005739, GO:0005739, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0051539, GO:0051538, GO:0047780, GO:0005506, GO:0003994, GO:0003994, 4 iron, 4 sulfur cluster binding, 3 iron, 4 sulfur cluster binding, citrate dehydratase activity, iron ion binding, aconitate hydratase activity, aconitate hydratase activity, GO:0035900, GO:0006102, GO:0006101, GO:0006099, GO:0006099, GO:0006099, GO:0006099, GO:0006091, GO:0001889, response to isolation stress, isocitrate metabolic process, citrate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, generation of precursor metabolites and energy, liver development, 305 254 349 219 231 230 185 180 212 ENSG00000100413 chr22 41525804 41544606 - POLR3H protein_coding 171568 GO:0043231, GO:0005829, GO:0005813, GO:0005666, GO:0005666, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, cytosol, centrosome, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003899, GO:0003677, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0051607, GO:0045087, GO:0032481, GO:0006384, GO:0006383, GO:0006139, defense response to virus, innate immune response, positive regulation of type I interferon production, transcription initiation from RNA polymerase III promoter, transcription by RNA polymerase III, nucleobase-containing compound metabolic process, 143 119 152 133 125 134 126 100 107 ENSG00000100416 chr22 46330875 46357340 + TRMU protein_coding This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 55687 GO:0005739, GO:0005739, GO:0005739, GO:0005654, mitochondrion, mitochondrion, mitochondrion, nucleoplasm, GO:0016783, GO:0005524, GO:0000049, sulfurtransferase activity, ATP binding, tRNA binding, GO:0002143, tRNA wobble position uridine thiolation, 71 91 92 110 128 119 102 108 117 ENSG00000100417 chr22 41576894 41589890 - PMM1 protein_coding Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]. 5372 GO:0043025, GO:0005829, GO:0005829, GO:0005829, neuronal cell body, cytosol, cytosol, cytosol, GO:0046872, GO:0005515, GO:0004615, GO:0004615, metal ion binding, protein binding, phosphomannomutase activity, phosphomannomutase activity, GO:1990830, GO:0045047, GO:0009298, GO:0009298, GO:0006487, GO:0006013, GO:0006013, cellular response to leukemia inhibitory factor, protein targeting to ER, GDP-mannose biosynthetic process, GDP-mannose biosynthetic process, protein N-linked glycosylation, mannose metabolic process, mannose metabolic process, 80 104 86 96 111 93 71 95 101 ENSG00000100418 chr22 41598028 41621096 - DESI1 protein_coding 27351 GO:0032991, GO:0005829, GO:0005634, protein-containing complex, cytosol, nucleus, GO:0070140, GO:0061676, GO:0042802, GO:0005515, SUMO-specific isopeptidase activity, importin-alpha family protein binding, identical protein binding, protein binding, GO:0070646, GO:0032434, GO:0016926, GO:0006611, protein modification by small protein removal, regulation of proteasomal ubiquitin-dependent protein catabolic process, protein desumoylation, protein export from nucleus, 377 371 488 161 183 200 226 168 140 ENSG00000100422 chr22 46684411 46738261 - CERK protein_coding CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]. 64781 GO:0016021, GO:0005886, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, GO:0102773, GO:0005524, GO:0005515, GO:0003951, GO:0001729, GO:0001729, GO:0001729, GO:0001727, GO:0000287, dihydroceramide kinase activity, ATP binding, protein binding, NAD+ kinase activity, ceramide kinase activity, ceramide kinase activity, ceramide kinase activity, lipid kinase activity, magnesium ion binding, GO:0046834, GO:0016310, GO:0006687, GO:0006672, GO:0006672, GO:0006672, GO:0006665, lipid phosphorylation, phosphorylation, glycosphingolipid metabolic process, ceramide metabolic process, ceramide metabolic process, ceramide metabolic process, sphingolipid metabolic process, 918 1025 1526 908 1362 1132 896 990 1030 ENSG00000100425 chr22 49773283 49827512 - BRD1 protein_coding This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]. 23774 GO:0070776, GO:0070776, GO:0043204, GO:0036409, GO:0030425, GO:0016607, GO:0005694, GO:0005634, GO:0005634, GO:0005634, MOZ/MORF histone acetyltransferase complex, MOZ/MORF histone acetyltransferase complex, perikaryon, histone H3-K14 acetyltransferase complex, dendrite, nuclear speck, chromosome, nucleus, nucleus, nucleus, GO:0046872, GO:0043994, GO:0042393, GO:0042393, GO:0005515, metal ion binding, histone acetyltransferase activity (H3-K23 specific), histone binding, histone binding, protein binding, GO:0051602, GO:0045648, GO:0044154, GO:0044154, GO:0043972, GO:0043966, GO:0043249, GO:0035902, response to electrical stimulus, positive regulation of erythrocyte differentiation, histone H3-K14 acetylation, histone H3-K14 acetylation, histone H3-K23 acetylation, histone H3 acetylation, erythrocyte maturation, response to immobilization stress, 593 582 836 448 452 561 404 429 484 ENSG00000100426 chr22 49853842 49890078 + ZBED4 protein_coding 9889 GO:0005737, GO:0005654, GO:0005634, GO:0001917, GO:0000785, cytoplasm, nucleoplasm, nucleus, photoreceptor inner segment, chromatin, GO:0046983, GO:0046872, GO:0042802, GO:0005515, GO:0003723, GO:0000981, GO:0000976, protein dimerization activity, metal ion binding, identical protein binding, protein binding, RNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, GO:0045944, positive regulation of transcription by RNA polymerase II, 113 117 158 117 155 162 140 127 127 ENSG00000100427 chr22 50059391 50085902 - MLC1 protein_coding The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 23209 GO:0097450, GO:0055037, GO:0048471, GO:0045121, GO:0031410, GO:0031410, GO:0030136, GO:0016324, GO:0016323, GO:0016021, GO:0005911, GO:0005901, GO:0005886, GO:0005886, GO:0005783, GO:0005783, GO:0005769, GO:0005768, GO:0005764, GO:0005737, astrocyte end-foot, recycling endosome, perinuclear region of cytoplasm, membrane raft, cytoplasmic vesicle, cytoplasmic vesicle, clathrin-coated vesicle, apical plasma membrane, basolateral plasma membrane, integral component of membrane, cell-cell junction, caveola, plasma membrane, plasma membrane, endoplasmic reticulum, endoplasmic reticulum, early endosome, endosome, lysosome, cytoplasm, GO:0044877, GO:0042802, GO:0005515, protein-containing complex binding, identical protein binding, protein binding, GO:0072584, GO:0071397, GO:0047484, GO:0047484, GO:0032388, GO:0016192, GO:0015031, GO:0006811, caveolin-mediated endocytosis, cellular response to cholesterol, regulation of response to osmotic stress, regulation of response to osmotic stress, positive regulation of intracellular transport, vesicle-mediated transport, protein transport, ion transport, 1 1 8 18 13 7 20 13 19 ENSG00000100429 chr22 50245183 50251405 - HDAC10 protein_coding The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 83933 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000118, cytoplasm, nucleoplasm, nucleoplasm, nucleus, histone deacetylase complex, GO:0047611, GO:0047609, GO:0042826, GO:0033558, GO:0033558, GO:0019899, GO:0019213, GO:0008270, GO:0005515, GO:0004407, GO:0004407, acetylspermidine deacetylase activity, acetylputrescine deacetylase activity, histone deacetylase binding, protein deacetylase activity, protein deacetylase activity, enzyme binding, deacetylase activity, zinc ion binding, protein binding, histone deacetylase activity, histone deacetylase activity, GO:0106048, GO:0106047, GO:0045892, GO:0035825, GO:0034983, GO:0032425, GO:0016575, GO:0016236, GO:0014003, GO:0006476, GO:0006476, GO:0006355, GO:0006325, GO:0006281, GO:0000122, spermidine deacetylation, polyamine deacetylation, negative regulation of transcription, DNA-templated, homologous recombination, peptidyl-lysine deacetylation, positive regulation of mismatch repair, histone deacetylation, macroautophagy, oligodendrocyte development, protein deacetylation, protein deacetylation, regulation of transcription, DNA-templated, chromatin organization, DNA repair, negative regulation of transcription by RNA polymerase II, 23 50 32 55 82 39 47 51 42 ENSG00000100433 chr14 88180103 88326907 - KCNK10 protein_coding The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]. 54207 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0022841, GO:0005267, GO:0005244, potassium ion leak channel activity, potassium channel activity, voltage-gated ion channel activity, GO:0071805, GO:0034765, GO:0030322, GO:0007613, GO:0007165, potassium ion transmembrane transport, regulation of ion transmembrane transport, stabilization of membrane potential, memory, signal transduction, 0 0 0 0 0 0 2 0 0 ENSG00000100439 chr14 22598237 22613215 + ABHD4 protein_coding 63874 GO:0005811, GO:0005789, GO:0005739, lipid droplet, endoplasmic reticulum membrane, mitochondrion, GO:0052689, GO:0042171, GO:0016787, GO:0005515, GO:0004622, carboxylic ester hydrolase activity, lysophosphatidic acid acyltransferase activity, hydrolase activity, protein binding, lysophospholipase activity, GO:0070292, GO:0055088, GO:0036152, GO:0016042, GO:0006654, N-acylphosphatidylethanolamine metabolic process, lipid homeostasis, phosphatidylethanolamine acyl-chain remodeling, lipid catabolic process, phosphatidic acid biosynthetic process, 520 705 631 293 538 439 363 404 362 ENSG00000100441 chr14 24429286 24441834 + KHNYN protein_coding This gene encodes a protein containing a ribonuclease NYN domain. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 23351 GO:0036464, GO:0005634, GO:0005575, cytoplasmic ribonucleoprotein granule, nucleus, cellular_component, GO:0005515, GO:0004521, GO:0003729, GO:0003674, protein binding, endoribonuclease activity, mRNA binding, molecular_function, GO:0090502, GO:0008150, RNA phosphodiester bond hydrolysis, endonucleolytic, biological_process, 2445 2424 2916 1804 2354 2557 1974 1840 1715 ENSG00000100442 chr14 45115600 45135319 - FKBP3 protein_coding The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. [provided by RefSeq, Sep 2008]. 2287 GO:0005634, nucleus, GO:0038023, GO:0005528, GO:0005515, GO:0003755, GO:0003723, signaling receptor activity, FK506 binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, RNA binding, GO:0000413, protein peptidyl-prolyl isomerization, 39 30 52 87 45 101 68 36 70 ENSG00000100445 chr14 24439766 24442905 - SDR39U1 protein_coding This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]. 56948 GO:0005634, nucleus, GO:0016491, oxidoreductase activity, GO:0055114, oxidation-reduction process, 581 615 710 610 831 879 696 527 604 ENSG00000100448 chr14 24573522 24576260 - CTSG protein_coding The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014]. 1511 GO:0070062, GO:0062023, GO:0062023, GO:0043231, GO:0035578, GO:0030141, GO:0010494, GO:0009986, GO:0005886, GO:0005886, GO:0005737, GO:0005634, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, azurophil granule lumen, secretory granule, cytoplasmic stress granule, cell surface, plasma membrane, plasma membrane, cytoplasm, nucleus, extracellular space, extracellular region, extracellular region, GO:0008236, GO:0008233, GO:0008201, GO:0005515, GO:0004252, GO:0004252, serine-type peptidase activity, peptidase activity, heparin binding, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0071222, GO:0070946, GO:0050832, GO:0050829, GO:0050778, GO:0044267, GO:0043312, GO:0022617, GO:0019731, GO:0019730, GO:0006955, GO:0006508, GO:0006468, GO:0002003, cellular response to lipopolysaccharide, neutrophil-mediated killing of gram-positive bacterium, defense response to fungus, defense response to Gram-negative bacterium, positive regulation of immune response, cellular protein metabolic process, neutrophil degranulation, extracellular matrix disassembly, antibacterial humoral response, antimicrobial humoral response, immune response, proteolysis, protein phosphorylation, angiotensin maturation, 0 0 5 2 5 10 0 1 9 ENSG00000100450 chr14 24606480 24609699 - GZMH protein_coding This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]. 2999 GO:0043231, GO:0016020, GO:0005737, intracellular membrane-bounded organelle, membrane, cytoplasm, GO:0004252, serine-type endopeptidase activity, GO:0019835, GO:0006915, GO:0006508, cytolysis, apoptotic process, proteolysis, 25 27 192 93 84 586 74 79 446 ENSG00000100453 chr14 24630954 24634267 - GZMB protein_coding This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]. 3002 GO:0043231, GO:0016020, GO:0005829, GO:0005739, GO:0005737, GO:0005634, GO:0001772, intracellular membrane-bounded organelle, membrane, cytosol, mitochondrion, cytoplasm, nucleus, immunological synapse, GO:0008236, GO:0005515, GO:0004252, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:1900740, GO:0140507, GO:0070269, GO:0051603, GO:0042267, GO:0042267, GO:0019835, GO:0017148, GO:0006915, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, granzyme-mediated programmed cell death signaling pathway, pyroptosis, proteolysis involved in cellular protein catabolic process, natural killer cell mediated cytotoxicity, natural killer cell mediated cytotoxicity, cytolysis, negative regulation of translation, apoptotic process, 38 37 90 123 107 229 132 113 166 ENSG00000100461 chr14 22893206 22919184 - RBM23 protein_coding This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 55147 GO:0016020, GO:0005634, membrane, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0048024, GO:0045893, GO:0008380, GO:0006397, regulation of mRNA splicing, via spliceosome, positive regulation of transcription, DNA-templated, RNA splicing, mRNA processing, 3163 3275 4009 1904 2546 2386 1756 1673 1799 ENSG00000100462 chr14 22920511 22929585 - PRMT5 protein_coding This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. 10419 GO:0035097, GO:0034709, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, histone methyltransferase complex, methylosome, cytosol, cytosol, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0070888, GO:0046982, GO:0044020, GO:0043021, GO:0042802, GO:0035243, GO:0035243, GO:0016274, GO:0008469, GO:0008469, GO:0008327, GO:0008168, GO:0005515, GO:0003714, GO:0002039, E-box binding, protein heterodimerization activity, histone methyltransferase activity (H4-R3 specific), ribonucleoprotein complex binding, identical protein binding, protein-arginine omega-N symmetric methyltransferase activity, protein-arginine omega-N symmetric methyltransferase activity, protein-arginine N-methyltransferase activity, histone-arginine N-methyltransferase activity, histone-arginine N-methyltransferase activity, methyl-CpG binding, methyltransferase activity, protein binding, transcription corepressor activity, p53 binding, GO:1904992, GO:1903507, GO:1901796, GO:0097421, GO:0090161, GO:0070372, GO:0048714, GO:0045596, GO:0044030, GO:0043985, GO:0043985, GO:0042118, GO:0035246, GO:0034969, GO:0032922, GO:0019918, GO:0018216, GO:0007088, GO:0006355, GO:0006353, GO:0000387, GO:0000387, positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway, negative regulation of nucleic acid-templated transcription, regulation of signal transduction by p53 class mediator, liver regeneration, Golgi ribbon formation, regulation of ERK1 and ERK2 cascade, positive regulation of oligodendrocyte differentiation, negative regulation of cell differentiation, regulation of DNA methylation, histone H4-R3 methylation, histone H4-R3 methylation, endothelial cell activation, peptidyl-arginine N-methylation, histone arginine methylation, circadian regulation of gene expression, peptidyl-arginine methylation, to symmetrical-dimethyl arginine, peptidyl-arginine methylation, regulation of mitotic nuclear division, regulation of transcription, DNA-templated, DNA-templated transcription, termination, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 236 148 243 294 244 305 285 138 263 ENSG00000100473 chr14 30874514 30895065 + COCH protein_coding The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]. 1690 GO:0062023, GO:0062023, collagen-containing extracellular matrix, collagen-containing extracellular matrix, GO:0005518, GO:0005515, collagen binding, protein binding, GO:0008360, GO:0007605, regulation of cell shape, sensory perception of sound, 1 9 10 20 13 8 9 8 4 ENSG00000100478 chr14 31025106 31096450 + AP4S1 protein_coding This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]. 11154 GO:0043231, GO:0043231, GO:0032588, GO:0031904, GO:0030124, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, trans-Golgi network membrane, endosome lumen, AP-4 adaptor complex, GO:0016192, GO:0008104, GO:0006605, vesicle-mediated transport, protein localization, protein targeting, 24 28 39 48 24 60 37 23 26 ENSG00000100479 chr14 49643555 49688422 - POLE2 protein_coding DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]. 5427 GO:0043231, GO:0016604, GO:0008622, GO:0008622, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, nuclear body, epsilon DNA polymerase complex, epsilon DNA polymerase complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003887, GO:0003677, protein binding, DNA-directed DNA polymerase activity, DNA binding, GO:0042276, GO:0032201, GO:0006281, GO:0006270, GO:0006261, GO:0006260, GO:0000082, error-prone translesion synthesis, telomere maintenance via semi-conservative replication, DNA repair, DNA replication initiation, DNA-dependent DNA replication, DNA replication, G1/S transition of mitotic cell cycle, 3 0 2 2 1 2 0 0 1 ENSG00000100483 chr14 50108632 50116600 - VCPKMT protein_coding 79609 GO:0032991, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, protein-containing complex, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, GO:0051117, GO:0016279, GO:0016279, GO:0016279, GO:0005515, ATPase binding, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, GO:0032780, GO:0018023, GO:0018023, GO:0018022, GO:0018022, GO:0006479, negative regulation of ATPase activity, peptidyl-lysine trimethylation, peptidyl-lysine trimethylation, peptidyl-lysine methylation, peptidyl-lysine methylation, protein methylation, 262 239 365 420 481 645 434 323 419 ENSG00000100485 chr14 50117120 50231558 - SOS2 protein_coding This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]. 6655 GO:0005829, cytosol, GO:0046982, GO:0005515, GO:0005085, GO:0003677, protein heterodimerization activity, protein binding, guanyl-nucleotide exchange factor activity, DNA binding, GO:0051057, GO:0051056, GO:0043065, GO:0007264, GO:0007186, positive regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, 2587 2420 2954 1434 2312 2112 1717 1893 1821 ENSG00000100490 chr14 50329404 50416461 - CDKL1 protein_coding This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018]. 8814 GO:0070062, GO:0043231, GO:0035869, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, intracellular membrane-bounded organelle, ciliary transition zone, cytoplasm, nucleoplasm, nucleus, GO:0005524, GO:0004693, ATP binding, cyclin-dependent protein serine/threonine kinase activity, GO:1902017, GO:0051726, GO:0007507, GO:0006468, regulation of cilium assembly, regulation of cell cycle, heart development, protein phosphorylation, 8 12 11 11 7 16 29 8 19 ENSG00000100503 chr14 50719763 50831121 - NIN protein_coding This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]. 51199 GO:0120103, GO:0097539, GO:0097431, GO:0072686, GO:0045177, GO:0044295, GO:0036449, GO:0030425, GO:0005886, GO:0005881, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005730, GO:0005654, GO:0000922, GO:0000242, GO:0000242, centriolar subdistal appendage, ciliary transition fiber, mitotic spindle pole, mitotic spindle, apical part of cell, axonal growth cone, microtubule minus-end, dendrite, plasma membrane, cytoplasmic microtubule, centriole, centriole, centrosome, centrosome, nucleolus, nucleoplasm, spindle pole, pericentriolar material, pericentriolar material, GO:0019900, GO:0005525, GO:0005515, GO:0005509, kinase binding, GTP binding, protein binding, calcium ion binding, GO:0090222, GO:0051642, GO:0051642, GO:0050772, GO:0048668, GO:0034454, GO:0034454, GO:0031116, GO:0021957, GO:0021540, GO:0010457, GO:0008104, centrosome-templated microtubule nucleation, centrosome localization, centrosome localization, positive regulation of axonogenesis, collateral sprouting, microtubule anchoring at centrosome, microtubule anchoring at centrosome, positive regulation of microtubule polymerization, corticospinal tract morphogenesis, corpus callosum morphogenesis, centriole-centriole cohesion, protein localization, 4647 5298 6381 2063 3285 3116 2730 2713 2652 ENSG00000100504 chr14 50857891 50944736 - PYGL protein_coding This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]. 5836 GO:1904813, GO:0070062, GO:0034774, GO:0005829, GO:0005737, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, cytosol, cytoplasm, extracellular region, GO:0102499, GO:0102250, GO:0042802, GO:0032052, GO:0030170, GO:0019842, GO:0016208, GO:0008184, GO:0008184, GO:0008184, GO:0008144, GO:0005536, GO:0005524, GO:0005515, GO:0002060, SHG alpha-glucan phosphorylase activity, linear malto-oligosaccharide phosphorylase activity, identical protein binding, bile acid binding, pyridoxal phosphate binding, vitamin binding, AMP binding, glycogen phosphorylase activity, glycogen phosphorylase activity, glycogen phosphorylase activity, drug binding, glucose binding, ATP binding, protein binding, purine nucleobase binding, GO:0070266, GO:0043312, GO:0042593, GO:0009617, GO:0006015, GO:0005980, GO:0005980, GO:0005977, necroptotic process, neutrophil degranulation, glucose homeostasis, response to bacterium, 5-phosphoribose 1-diphosphate biosynthetic process, glycogen catabolic process, glycogen catabolic process, glycogen metabolic process, 4322 3257 4930 2052 2693 2415 2517 2336 2433 ENSG00000100505 chr14 50975262 51096061 - TRIM9 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 114088 GO:0099523, GO:0030425, GO:0008021, GO:0005856, GO:0005737, presynaptic cytosol, dendrite, synaptic vesicle, cytoskeleton, cytoplasm, GO:0061630, GO:0042803, GO:0019904, GO:0008270, GO:0005515, GO:0000149, ubiquitin protein ligase activity, protein homodimerization activity, protein domain specific binding, zinc ion binding, protein binding, SNARE binding, GO:0045955, GO:0043161, GO:0035544, GO:0016567, GO:0016079, negative regulation of calcium ion-dependent exocytosis, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of SNARE complex assembly, protein ubiquitination, synaptic vesicle exocytosis, 56 33 49 28 25 43 31 23 35 ENSG00000100519 chr14 52707172 52728587 + PSMC6 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]. 5706 GO:0070062, GO:0031597, GO:0022624, GO:0016020, GO:0008540, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000502, extracellular exosome, cytosolic proteasome complex, proteasome accessory complex, membrane, proteasome regulatory particle, base subcomplex, cytosol, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0042802, GO:0030674, GO:0016887, GO:0005524, GO:0005515, identical protein binding, protein-macromolecule adaptor activity, ATPase activity, ATP binding, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0045899, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0030433, GO:0016579, GO:0010972, GO:0006521, GO:0006511, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, positive regulation of RNA polymerase II transcription preinitiation complex assembly, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, ubiquitin-dependent ERAD pathway, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, ubiquitin-dependent protein catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 398 334 416 394 386 434 369 353 397 ENSG00000100522 chr14 52775194 52791668 - GNPNAT1 protein_coding 64841 GO:0010008, GO:0005829, GO:0005794, GO:0005793, GO:0005783, GO:0005770, GO:0000139, endosome membrane, cytosol, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, late endosome, Golgi membrane, GO:0048029, GO:0042802, GO:0008080, GO:0005515, GO:0004343, monosaccharide binding, identical protein binding, N-acetyltransferase activity, protein binding, glucosamine 6-phosphate N-acetyltransferase activity, GO:1990830, GO:0006048, GO:0006048, GO:0006048, GO:0006044, GO:0006041, GO:0001889, cellular response to leukemia inhibitory factor, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, N-acetylglucosamine metabolic process, glucosamine metabolic process, liver development, 16 17 21 56 27 32 34 17 29 ENSG00000100523 chr14 53036745 53153282 - DDHD1 protein_coding This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 80821 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0046872, GO:0005515, GO:0004620, metal ion binding, protein binding, phospholipase activity, GO:0090141, GO:0016042, GO:0006654, positive regulation of mitochondrial fission, lipid catabolic process, phosphatidic acid biosynthetic process, 128 75 205 199 86 329 224 62 189 ENSG00000100526 chr14 54396849 54420218 + CDKN3 protein_coding The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 1033 GO:0048471, GO:0005829, GO:0005737, perinuclear region of cytoplasm, cytosol, cytoplasm, GO:0106307, GO:0106306, GO:0008138, GO:0005515, GO:0004725, GO:0004725, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, GO:0035335, GO:0008285, GO:0007050, GO:0007050, GO:0000082, GO:0000079, peptidyl-tyrosine dephosphorylation, negative regulation of cell population proliferation, cell cycle arrest, cell cycle arrest, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 1 2 2 2 1 5 7 4 2 ENSG00000100528 chr14 54423560 54441431 - CNIH1 protein_coding 10175 GO:0033116, GO:0016021, GO:0012507, GO:0005789, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, ER to Golgi transport vesicle membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, protein binding, GO:0048208, GO:0007165, GO:0006955, GO:0006888, COPII vesicle coating, signal transduction, immune response, endoplasmic reticulum to Golgi vesicle-mediated transport, 82 69 93 89 91 107 77 57 77 ENSG00000100532 chr14 54509812 54539309 + CGRRF1 protein_coding 10668 GO:0043231, GO:0005783, GO:0005654, intracellular membrane-bounded organelle, endoplasmic reticulum, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0030308, GO:0008285, GO:0007050, negative regulation of cell growth, negative regulation of cell population proliferation, cell cycle arrest, 37 46 53 50 75 39 55 65 42 ENSG00000100554 chr14 67294371 67360265 - ATP6V1D protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]. 51382 GO:0070062, GO:0035579, GO:0033176, GO:0033176, GO:0016020, GO:0005929, GO:0005886, GO:0005829, GO:0005813, GO:0005765, extracellular exosome, specific granule membrane, proton-transporting V-type ATPase complex, proton-transporting V-type ATPase complex, membrane, cilium, plasma membrane, cytosol, centrosome, lysosomal membrane, GO:0046961, GO:0005515, proton-transporting ATPase activity, rotational mechanism, protein binding, GO:1902600, GO:0090383, GO:0061512, GO:0060271, GO:0043312, GO:0034220, GO:0033572, GO:0016241, GO:0008286, proton transmembrane transport, phagosome acidification, protein localization to cilium, cilium assembly, neutrophil degranulation, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, 993 1061 1170 4628 5053 3900 3622 2695 2347 ENSG00000100557 chr14 57469301 57493867 - CCDC198 protein_coding 55195 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000100558 chr14 67386983 67412200 - PLEK2 protein_coding The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to induce cell spreading. In conjunction with complement component 1, q subcomponent, B chain (C1QB), this gene shows an increase in expression in melanoma cells and may serve as an accurate biomarker for the disease. [provided by RefSeq, Dec 2015]. 26499 GO:0031258, GO:0005886, GO:0005856, GO:0005737, lamellipodium membrane, plasma membrane, cytoskeleton, cytoplasm, GO:0080025, GO:0043325, GO:0032266, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, GO:0120034, GO:0035556, GO:0031532, positive regulation of plasma membrane bounded cell projection assembly, intracellular signal transduction, actin cytoskeleton reorganization, 1 0 0 5 0 1 2 0 2 ENSG00000100564 chr14 67581955 67600287 - PIGH protein_coding This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]. 5283 GO:0005789, GO:0005783, GO:0000506, GO:0000506, endoplasmic reticulum membrane, endoplasmic reticulum, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, GO:0017176, GO:0003824, phosphatidylinositol N-acetylglucosaminyltransferase activity, catalytic activity, GO:0016254, GO:0006506, GO:0006506, GO:0006464, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, cellular protein modification process, 55 45 107 64 80 111 79 65 75 ENSG00000100565 chr14 76826372 76870302 + LRRC74A protein_coding 145497 0 0 0 0 0 0 0 0 0 ENSG00000100567 chr14 58244831 58272012 + PSMA3 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 5684 GO:0070062, GO:0045202, GO:0019773, GO:0019773, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000502, extracellular exosome, synapse, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, proteasome complex, GO:0031625, GO:0005515, GO:0004175, ubiquitin protein ligase binding, protein binding, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0052548, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, regulation of endopeptidase activity, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 532 492 663 382 478 440 429 344 361 ENSG00000100568 chr14 67647075 67674831 - VTI1B protein_coding 10490 GO:0055038, GO:0055037, GO:0048471, GO:0043231, GO:0043025, GO:0031982, GO:0031902, GO:0031902, GO:0031901, GO:0031201, GO:0031093, GO:0016021, GO:0012507, GO:0008021, GO:0005829, GO:0005794, GO:0005794, GO:0005789, GO:0005765, GO:0005576, recycling endosome membrane, recycling endosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, neuronal cell body, vesicle, late endosome membrane, late endosome membrane, early endosome membrane, SNARE complex, platelet alpha granule lumen, integral component of membrane, ER to Golgi transport vesicle membrane, synaptic vesicle, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, lysosomal membrane, extracellular region, GO:0019869, GO:0005515, GO:0005484, GO:0000149, GO:0000149, chloride channel inhibitor activity, protein binding, SNAP receptor activity, SNARE binding, SNARE binding, GO:1903076, GO:0097352, GO:0061025, GO:0048280, GO:0042147, GO:0016192, GO:0006904, GO:0006896, GO:0006891, GO:0006888, GO:0006623, GO:0002576, regulation of protein localization to plasma membrane, autophagosome maturation, membrane fusion, vesicle fusion with Golgi apparatus, retrograde transport, endosome to Golgi, vesicle-mediated transport, vesicle docking involved in exocytosis, Golgi to vacuole transport, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein targeting to vacuole, platelet degranulation, 207 206 232 154 184 172 143 175 173 ENSG00000100575 chr14 58408494 58427614 - TIMM9 protein_coding TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]. 26520 GO:0042719, GO:0042719, GO:0005758, GO:0005743, GO:0005743, GO:0005739, mitochondrial intermembrane space protein transporter complex, mitochondrial intermembrane space protein transporter complex, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0140318, GO:0051087, GO:0042803, GO:0008270, GO:0005515, protein transporter activity, chaperone binding, protein homodimerization activity, zinc ion binding, protein binding, GO:0072321, GO:0045039, GO:0045039, GO:0007605, GO:0006626, chaperone-mediated protein transport, protein insertion into mitochondrial inner membrane, protein insertion into mitochondrial inner membrane, sensory perception of sound, protein targeting to mitochondrion, 17 12 20 24 7 31 18 24 21 ENSG00000100577 chr14 77320884 77331597 + GSTZ1 protein_coding This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]. 2954 GO:0005829, GO:0005759, GO:0005739, GO:0005739, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0042803, GO:0042802, GO:0016034, GO:0016034, GO:0005515, GO:0004602, GO:0004364, GO:0004364, protein homodimerization activity, identical protein binding, maleylacetoacetate isomerase activity, maleylacetoacetate isomerase activity, protein binding, glutathione peroxidase activity, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0098869, GO:0010510, GO:0006749, GO:0006749, GO:0006572, GO:0006559, GO:0006559, GO:0006559, glutathione derivative biosynthetic process, cellular oxidant detoxification, regulation of acetyl-CoA biosynthetic process from pyruvate, glutathione metabolic process, glutathione metabolic process, tyrosine catabolic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, 6 14 15 10 16 25 10 9 12 ENSG00000100578 chr14 58427385 58551289 + KIAA0586 protein_coding This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]. 9786 GO:0036064, GO:0036064, GO:0005814, GO:0005813, GO:0005737, GO:0001917, ciliary basal body, ciliary basal body, centriole, centrosome, cytoplasm, photoreceptor inner segment, GO:0070201, GO:0060271, GO:0060271, GO:0007224, GO:0007224, regulation of establishment of protein localization, cilium assembly, cilium assembly, smoothened signaling pathway, smoothened signaling pathway, 158 146 199 116 97 116 113 68 95 ENSG00000100580 chr14 77335021 77377109 - TMED8 protein_coding 283578 GO:0005515, protein binding, 203 216 247 159 165 211 169 117 131 ENSG00000100583 chr14 77376689 77391497 + SAMD15 protein_coding 161394 5 6 3 1 0 1 1 1 0 ENSG00000100591 chr14 77457870 77469474 + AHSA1 protein_coding 10598 GO:0070062, GO:0005829, GO:0005829, GO:0005783, extracellular exosome, cytosol, cytosol, endoplasmic reticulum, GO:0051879, GO:0051087, GO:0045296, GO:0005515, GO:0001671, GO:0001671, Hsp90 protein binding, chaperone binding, cadherin binding, protein binding, ATPase activator activity, ATPase activator activity, GO:0032781, GO:0032781, GO:0016032, GO:0006457, positive regulation of ATPase activity, positive regulation of ATPase activity, viral process, protein folding, 189 203 304 224 196 224 166 129 133 ENSG00000100592 chr14 59188646 59371405 + DAAM1 protein_coding Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]. 23002 GO:0036064, GO:0031514, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0001725, GO:0001725, ciliary basal body, motile cilium, membrane, plasma membrane, cytosol, cytosol, stress fiber, stress fiber, GO:0042802, GO:0031267, GO:0005515, GO:0003779, identical protein binding, small GTPase binding, protein binding, actin binding, GO:0060071, GO:0060071, GO:0030036, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, actin cytoskeleton organization, 16 27 40 48 30 47 27 16 44 ENSG00000100593 chr14 77474394 77498850 - ISM2 protein_coding The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009]. 145501 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 1 3 0 5 0 0 ENSG00000100596 chr14 77505997 77616773 - SPTLC2 protein_coding This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]. 9517 GO:0017059, GO:0017059, GO:0016021, GO:0005789, serine C-palmitoyltransferase complex, serine C-palmitoyltransferase complex, integral component of membrane, endoplasmic reticulum membrane, GO:0030170, GO:0004758, GO:0004758, GO:0004758, pyridoxal phosphate binding, serine C-palmitoyltransferase activity, serine C-palmitoyltransferase activity, serine C-palmitoyltransferase activity, GO:1904504, GO:0060612, GO:0046513, GO:0046513, GO:0046512, GO:0046511, GO:0030148, GO:0030148, GO:0006686, positive regulation of lipophagy, adipose tissue development, ceramide biosynthetic process, ceramide biosynthetic process, sphingosine biosynthetic process, sphinganine biosynthetic process, sphingolipid biosynthetic process, sphingolipid biosynthetic process, sphingomyelin biosynthetic process, 633 647 761 319 600 555 414 453 457 ENSG00000100599 chr14 92513774 92688994 + RIN3 protein_coding Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 79890 GO:0031410, GO:0030139, GO:0005829, GO:0005769, GO:0005737, cytoplasmic vesicle, endocytic vesicle, cytosol, early endosome, cytoplasm, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005085, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0060755, GO:0043547, GO:0007165, GO:0006897, GO:0002091, negative regulation of mast cell chemotaxis, positive regulation of GTPase activity, signal transduction, endocytosis, negative regulation of receptor internalization, 2460 2701 3872 764 1683 1812 1149 1458 1392 ENSG00000100600 chr14 92703807 92748702 - LGMN protein_coding This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008]. 5641 GO:0070062, GO:0048471, GO:0045177, GO:0043202, GO:0036021, GO:0005770, GO:0005764, GO:0005764, GO:0005737, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, apical part of cell, lysosomal lumen, endolysosome lumen, late endosome, lysosome, lysosome, cytoplasm, extracellular region, GO:0048156, GO:0008233, GO:0004197, GO:0004197, GO:0004197, GO:0004197, GO:0004197, tau protein binding, peptidase activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:2001028, GO:1904646, GO:1901185, GO:1900273, GO:0097264, GO:0097202, GO:0097061, GO:0090026, GO:0071277, GO:0051603, GO:0051603, GO:0051603, GO:0045931, GO:0043524, GO:0042359, GO:0040015, GO:0035729, GO:0032801, GO:0019886, GO:0010629, GO:0010447, GO:0010447, GO:0008306, GO:0008284, GO:0007613, GO:0006624, GO:0006508, GO:0003014, GO:0002224, positive regulation of endothelial cell chemotaxis, cellular response to amyloid-beta, negative regulation of ERBB signaling pathway, positive regulation of long-term synaptic potentiation, self proteolysis, activation of cysteine-type endopeptidase activity, dendritic spine organization, positive regulation of monocyte chemotaxis, cellular response to calcium ion, proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, positive regulation of mitotic cell cycle, negative regulation of neuron apoptotic process, vitamin D metabolic process, negative regulation of multicellular organism growth, cellular response to hepatocyte growth factor stimulus, receptor catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class II, negative regulation of gene expression, response to acidic pH, response to acidic pH, associative learning, positive regulation of cell population proliferation, memory, vacuolar protein processing, proteolysis, renal system process, toll-like receptor signaling pathway, 19 16 22 49 57 61 59 30 37 ENSG00000100601 chr14 77672404 77708020 - ALKBH1 protein_coding This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]. 8846 GO:0005783, GO:0005739, GO:0005739, GO:0005654, GO:0000791, endoplasmic reticulum, mitochondrion, mitochondrion, nucleoplasm, euchromatin, GO:1990984, GO:0140078, GO:0103053, GO:0070579, GO:0042056, GO:0035516, GO:0035516, GO:0035515, GO:0016706, GO:0008198, GO:0000049, tRNA demethylase activity, class I DNA-(apurinic or apyrimidinic site) endonuclease activity, 1-ethyladenine demethylase activity, methylcytosine dioxygenase activity, chemoattractant activity, oxidative DNA demethylase activity, oxidative DNA demethylase activity, oxidative RNA demethylase activity, 2-oxoglutarate-dependent dioxygenase activity, ferrous iron binding, tRNA binding, GO:1990983, GO:0080111, GO:0070989, GO:0070129, GO:0050918, GO:0048589, GO:0043524, GO:0042245, GO:0035513, GO:0035511, GO:0031175, GO:0006448, GO:0006446, GO:0006307, GO:0006281, GO:0002101, GO:0001890, GO:0001764, GO:0001701, tRNA demethylation, DNA demethylation, oxidative demethylation, regulation of mitochondrial translation, positive chemotaxis, developmental growth, negative regulation of neuron apoptotic process, RNA repair, oxidative RNA demethylation, oxidative DNA demethylation, neuron projection development, regulation of translational elongation, regulation of translational initiation, DNA dealkylation involved in DNA repair, DNA repair, tRNA wobble cytosine modification, placenta development, neuron migration, in utero embryonic development, 24 24 26 25 41 19 30 21 21 ENSG00000100603 chr14 77717599 77761207 - SNW1 protein_coding This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 22938 GO:0071013, GO:0071007, GO:0016607, GO:0016604, GO:0016363, GO:0008024, GO:0005681, GO:0005654, GO:0005654, GO:0005634, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear speck, nuclear body, nuclear matrix, cyclin/CDK positive transcription elongation factor complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0050681, GO:0046332, GO:0042974, GO:0042809, GO:0035257, GO:0019899, GO:0005515, GO:0005112, GO:0003723, GO:0003714, GO:0003713, androgen receptor binding, SMAD binding, retinoic acid receptor binding, vitamin D receptor binding, nuclear hormone receptor binding, enzyme binding, protein binding, Notch binding, RNA binding, transcription corepressor activity, transcription coactivator activity, GO:0071300, GO:0070564, GO:0070562, GO:0051571, GO:0050769, GO:0048385, GO:0048384, GO:0048026, GO:0045944, GO:0045944, GO:0045892, GO:0045747, GO:0043923, GO:0043923, GO:0042771, GO:0030511, GO:0016032, GO:0007221, GO:0007219, GO:0006367, GO:0006357, GO:0000398, GO:0000398, GO:0000398, GO:0000122, cellular response to retinoic acid, positive regulation of vitamin D receptor signaling pathway, regulation of vitamin D receptor signaling pathway, positive regulation of histone H3-K4 methylation, positive regulation of neurogenesis, regulation of retinoic acid receptor signaling pathway, retinoic acid receptor signaling pathway, positive regulation of mRNA splicing, via spliceosome, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, positive regulation by host of viral transcription, positive regulation by host of viral transcription, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of transforming growth factor beta receptor signaling pathway, viral process, positive regulation of transcription of Notch receptor target, Notch signaling pathway, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, 829 750 1114 445 488 494 426 443 431 ENSG00000100604 chr14 92923080 92935293 + CHGA protein_coding The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. 1113 GO:0098992, GO:0048471, GO:0042583, GO:0042583, GO:0030141, GO:0030141, GO:0030133, GO:0005615, GO:0005615, GO:0005576, neuronal dense core vesicle, perinuclear region of cytoplasm, chromaffin granule, chromaffin granule, secretory granule, secretory granule, transport vesicle, extracellular space, extracellular space, extracellular region, GO:2000707, GO:1901899, GO:1901215, GO:1900738, GO:0097756, GO:0086030, GO:0086030, GO:0060452, GO:0050832, GO:0050830, GO:0050829, GO:0046676, GO:0045576, GO:0045087, GO:0043303, GO:0042742, GO:0033604, GO:0033604, GO:0033366, GO:0032762, GO:0031640, GO:0019730, GO:0008217, GO:0006996, GO:0002551, GO:0002026, positive regulation of dense core granule biogenesis, positive regulation of relaxation of cardiac muscle, negative regulation of neuron death, positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway, negative regulation of blood vessel diameter, adenylate cyclase-activating adrenergic receptor signaling pathway involved in cardiac muscle relaxation, adenylate cyclase-activating adrenergic receptor signaling pathway involved in cardiac muscle relaxation, positive regulation of cardiac muscle contraction, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, negative regulation of insulin secretion, mast cell activation, innate immune response, mast cell degranulation, defense response to bacterium, negative regulation of catecholamine secretion, negative regulation of catecholamine secretion, protein localization to secretory granule, mast cell cytokine production, killing of cells of other organism, antimicrobial humoral response, regulation of blood pressure, organelle organization, mast cell chemotaxis, regulation of the force of heart contraction, 0 0 2 1 1 0 0 3 6 ENSG00000100605 chr14 92936914 93116320 - ITPK1 protein_coding This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]. 3705 GO:0016324, GO:0005829, GO:0005737, apical plasma membrane, cytosol, cytoplasm, GO:0052726, GO:0052726, GO:0052725, GO:0052725, GO:0047325, GO:0047325, GO:0016853, GO:0016787, GO:0005524, GO:0003824, GO:0000825, GO:0000287, inositol-1,3,4-trisphosphate 5-kinase activity, inositol-1,3,4-trisphosphate 5-kinase activity, inositol-1,3,4-trisphosphate 6-kinase activity, inositol-1,3,4-trisphosphate 6-kinase activity, inositol tetrakisphosphate 1-kinase activity, inositol tetrakisphosphate 1-kinase activity, isomerase activity, hydrolase activity, ATP binding, catalytic activity, inositol tetrakisphosphate 6-kinase activity, magnesium ion binding, GO:0070266, GO:0052746, GO:0043647, GO:0032957, GO:0021915, GO:0007596, GO:0007165, necroptotic process, inositol phosphorylation, inositol phosphate metabolic process, inositol trisphosphate metabolic process, neural tube development, blood coagulation, signal transduction, 590 672 235 130 178 60 281 151 308 ENSG00000100612 chr14 60144120 60169856 - DHRS7 protein_coding This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 2016]. 51635 GO:0016020, membrane, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, oxidation-reduction process, 2161 1246 1873 369 838 528 601 852 566 ENSG00000100614 chr14 60245752 60299087 + PPM1A protein_coding The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 5494 GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, membrane, plasma membrane, cytosol, cytosol, cytosol, cytosol, nucleoplasm, nucleus, nucleus, GO:0106307, GO:0106306, GO:0070412, GO:0033192, GO:0030145, GO:0005515, GO:0004722, GO:0004722, GO:0000287, protein threonine phosphatase activity, protein serine phosphatase activity, R-SMAD binding, calmodulin-dependent protein phosphatase activity, manganese ion binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, magnesium ion binding, GO:1901223, GO:0090263, GO:0090263, GO:0071560, GO:0046827, GO:0045893, GO:0043124, GO:0043124, GO:0043123, GO:0035970, GO:0030514, GO:0030512, GO:0016311, GO:0010991, GO:0007050, GO:0006499, GO:0006470, GO:0000122, negative regulation of NIK/NF-kappaB signaling, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, cellular response to transforming growth factor beta stimulus, positive regulation of protein export from nucleus, positive regulation of transcription, DNA-templated, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, peptidyl-threonine dephosphorylation, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, dephosphorylation, negative regulation of SMAD protein complex assembly, cell cycle arrest, N-terminal protein myristoylation, protein dephosphorylation, negative regulation of transcription by RNA polymerase II, 3039 2740 3457 1417 2092 2031 1743 1767 1766 ENSG00000100625 chr14 60709528 60724348 - SIX4 protein_coding This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]. 51804 GO:0005737, GO:0005667, GO:0005634, GO:0005634, GO:0000785, cytoplasm, transcription regulator complex, nucleus, nucleus, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902725, GO:0098528, GO:0090190, GO:0072107, GO:0072095, GO:0072075, GO:0061551, GO:0061197, GO:0061055, GO:0060037, GO:0051451, GO:0050678, GO:0048701, GO:0048699, GO:0048538, GO:0046661, GO:0045944, GO:0045893, GO:0045892, GO:0045214, GO:0043586, GO:0043524, GO:0043066, GO:0042472, GO:0034504, GO:0032880, GO:0030910, GO:0030238, GO:0009653, GO:0008584, GO:0008582, GO:0007519, GO:0006357, negative regulation of satellite cell differentiation, skeletal muscle fiber differentiation, positive regulation of branching involved in ureteric bud morphogenesis, positive regulation of ureteric bud formation, regulation of branch elongation involved in ureteric bud branching, metanephric mesenchyme development, trigeminal ganglion development, fungiform papilla morphogenesis, myotome development, pharyngeal system development, myoblast migration, regulation of epithelial cell proliferation, embryonic cranial skeleton morphogenesis, generation of neurons, thymus development, male sex differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, sarcomere organization, tongue development, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, inner ear morphogenesis, protein localization to nucleus, regulation of protein localization, olfactory placode formation, male sex determination, anatomical structure morphogenesis, male gonad development, regulation of synaptic growth at neuromuscular junction, skeletal muscle tissue development, regulation of transcription by RNA polymerase II, 1 0 5 0 0 0 0 0 0 ENSG00000100626 chr14 69259277 69357033 + GALNT16 protein_coding 57452 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0018243, GO:0018242, protein O-linked glycosylation via threonine, protein O-linked glycosylation via serine, 1 0 2 0 0 0 0 0 0 ENSG00000100628 chr14 93934153 93976791 - ASB2 protein_coding This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 51676 GO:0005829, GO:0000151, GO:0000151, cytosol, ubiquitin ligase complex, ubiquitin ligase complex, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0043687, GO:0035914, GO:0035556, GO:0016567, GO:0016567, GO:0016567, GO:0007165, GO:0006511, post-translational protein modification, skeletal muscle cell differentiation, intracellular signal transduction, protein ubiquitination, protein ubiquitination, protein ubiquitination, signal transduction, ubiquitin-dependent protein catabolic process, 3 2 9 2 1 0 5 1 6 ENSG00000100629 chr14 80476983 80959517 - CEP128 protein_coding 145508 GO:0120103, GO:0005814, GO:0005737, GO:0000922, centriolar subdistal appendage, centriole, cytoplasm, spindle pole, GO:0008104, protein localization, 11 15 18 47 6 16 10 4 15 ENSG00000100632 chr14 69380123 69398627 - ERH protein_coding 2079 GO:0034709, GO:0030496, GO:0005634, methylosome, midbody, nucleus, GO:0008327, GO:0005515, GO:0003723, methyl-CpG binding, protein binding, RNA binding, GO:0007049, GO:0006213, GO:0006139, cell cycle, pyrimidine nucleoside metabolic process, nucleobase-containing compound metabolic process, 163 141 189 149 122 149 100 151 133 ENSG00000100644 chr14 61695513 61748259 + HIF1A protein_coding This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]. 3091 GO:1904115, GO:0090575, GO:0032991, GO:0031514, GO:0016607, GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, axon cytoplasm, RNA polymerase II transcription regulator complex, protein-containing complex, motile cilium, nuclear speck, nuclear body, cytosol, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0070888, GO:0051879, GO:0046982, GO:0043565, GO:0042826, GO:0035257, GO:0035035, GO:0031625, GO:0019904, GO:0019901, GO:0019899, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0002039, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000981, GO:0000977, GO:0000977, E-box binding, Hsp90 protein binding, protein heterodimerization activity, sequence-specific DNA binding, histone deacetylase binding, nuclear hormone receptor binding, histone acetyltransferase binding, ubiquitin protein ligase binding, protein domain specific binding, protein kinase binding, enzyme binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, p53 binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001054, GO:2000434, GO:2000378, GO:1903715, GO:1903599, GO:1903377, GO:1902895, GO:1902895, GO:0098586, GO:0097411, GO:0071542, GO:0071456, GO:0071456, GO:0071456, GO:0071347, GO:0070244, GO:0070101, GO:0061419, GO:0061419, GO:0061418, GO:0061298, GO:0061072, GO:0061030, GO:0060574, GO:0051541, GO:0051216, GO:0051000, GO:0048546, GO:0046886, GO:0046716, GO:0045944, GO:0045944, GO:0045944, GO:0045926, GO:0045893, GO:0045893, GO:0045821, GO:0045766, GO:0045766, GO:0045648, GO:0043687, GO:0043619, GO:0043536, GO:0042593, GO:0042541, GO:0035774, GO:0035162, GO:0032963, GO:0032909, GO:0032722, GO:0032364, GO:0032007, GO:0030949, GO:0030502, GO:0021987, GO:0021502, GO:0019896, GO:0019221, GO:0016579, GO:0016567, GO:0016239, GO:0014850, GO:0010634, GO:0010629, GO:0010628, GO:0010628, GO:0010575, GO:0010575, GO:0010573, GO:0010468, GO:0010039, GO:0008542, GO:0007595, GO:0007165, GO:0006879, GO:0006357, GO:0006355, GO:0006110, GO:0006089, GO:0003208, GO:0003151, GO:0002534, GO:0002248, GO:0002052, GO:0001947, GO:0001938, GO:0001922, GO:0001892, GO:0001837, GO:0001755, GO:0001666, GO:0001666, GO:0001525, GO:0000302, negative regulation of mesenchymal cell apoptotic process, regulation of protein neddylation, negative regulation of reactive oxygen species metabolic process, regulation of aerobic respiration, positive regulation of autophagy of mitochondrion, negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of pri-miRNA transcription by RNA polymerase II, cellular response to virus, hypoxia-inducible factor-1alpha signaling pathway, dopaminergic neuron differentiation, cellular response to hypoxia, cellular response to hypoxia, cellular response to hypoxia, cellular response to interleukin-1, negative regulation of thymocyte apoptotic process, positive regulation of chemokine-mediated signaling pathway, positive regulation of transcription from RNA polymerase II promoter in response to hypoxia, positive regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of transcription from RNA polymerase II promoter in response to hypoxia, retina vasculature development in camera-type eye, iris morphogenesis, epithelial cell differentiation involved in mammary gland alveolus development, intestinal epithelial cell maturation, elastin metabolic process, cartilage development, positive regulation of nitric-oxide synthase activity, digestive tract morphogenesis, positive regulation of hormone biosynthetic process, muscle cell cellular homeostasis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of growth, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of glycolytic process, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of erythrocyte differentiation, post-translational protein modification, regulation of transcription from RNA polymerase II promoter in response to oxidative stress, positive regulation of blood vessel endothelial cell migration, glucose homeostasis, hemoglobin biosynthetic process, positive regulation of insulin secretion involved in cellular response to glucose stimulus, embryonic hemopoiesis, collagen metabolic process, regulation of transforming growth factor beta2 production, positive regulation of chemokine production, oxygen homeostasis, negative regulation of TOR signaling, positive regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of bone mineralization, cerebral cortex development, neural fold elevation formation, axonal transport of mitochondrion, cytokine-mediated signaling pathway, protein deubiquitination, protein ubiquitination, positive regulation of macroautophagy, response to muscle activity, positive regulation of epithelial cell migration, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of vascular endothelial growth factor production, positive regulation of vascular endothelial growth factor production, vascular endothelial growth factor production, regulation of gene expression, response to iron ion, visual learning, lactation, signal transduction, cellular iron ion homeostasis, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of glycolytic process, lactate metabolic process, cardiac ventricle morphogenesis, outflow tract morphogenesis, cytokine production involved in inflammatory response, connective tissue replacement involved in inflammatory response wound healing, positive regulation of neuroblast proliferation, heart looping, positive regulation of endothelial cell proliferation, B-1 B cell homeostasis, embryonic placenta development, epithelial to mesenchymal transition, neural crest cell migration, response to hypoxia, response to hypoxia, angiogenesis, response to reactive oxygen species, 11180 10086 15876 3019 4961 4775 3775 3742 4143 ENSG00000100647 chr14 69611596 69715142 + SUSD6 protein_coding 9766 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008219, GO:0006974, cell death, cellular response to DNA damage stimulus, 6461 6792 9753 2632 4203 4365 3030 3058 3428 ENSG00000100650 chr14 69726900 69772005 + SRSF5 protein_coding The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 6430 GO:0016607, GO:0016607, GO:0005829, GO:0005730, GO:0005654, GO:0005654, nuclear speck, nuclear speck, cytosol, nucleolus, nucleoplasm, nucleoplasm, GO:0043422, GO:0005515, GO:0003729, GO:0003723, GO:0003723, protein kinase B binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:0097421, GO:0051726, GO:0045292, GO:0033120, GO:0032869, GO:0031124, GO:0006406, GO:0006405, GO:0006397, GO:0006376, GO:0000398, GO:0000381, liver regeneration, regulation of cell cycle, mRNA cis splicing, via spliceosome, positive regulation of RNA splicing, cellular response to insulin stimulus, mRNA 3'-end processing, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splice site selection, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 6841 8075 8746 13784 19592 18727 14042 12328 13391 ENSG00000100652 chr14 69775417 69797289 - SLC10A1 protein_coding The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]. 6554 GO:0016323, GO:0005887, GO:0005886, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, GO:0008508, GO:0008508, GO:0005515, GO:0001618, bile acid:sodium symporter activity, bile acid:sodium symporter activity, protein binding, virus receptor activity, GO:1904486, GO:0120188, GO:0055085, GO:0046718, GO:0045471, GO:0038183, GO:0035690, GO:0031667, GO:0015721, GO:0015721, GO:0010468, GO:0006814, response to 17alpha-ethynylestradiol, regulation of bile acid secretion, transmembrane transport, viral entry into host cell, response to ethanol, bile acid signaling pathway, cellular response to drug, response to nutrient levels, bile acid and bile salt transport, bile acid and bile salt transport, regulation of gene expression, sodium ion transport, 10 5 9 11 38 30 18 30 33 ENSG00000100664 chr14 103333544 103345025 + EIF5 protein_coding Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]. 1983 GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005634, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, nucleus, GO:0071074, GO:0045296, GO:0005525, GO:0005515, GO:0005092, GO:0003743, GO:0003723, eukaryotic initiation factor eIF2 binding, cadherin binding, GTP binding, protein binding, GDP-dissociation inhibitor activity, translation initiation factor activity, RNA binding, GO:0090630, GO:0006446, GO:0001732, GO:0001731, activation of GTPase activity, regulation of translational initiation, formation of cytoplasmic translation initiation complex, formation of translation preinitiation complex, 3196 3422 4361 8036 10456 10751 6922 6459 7496 ENSG00000100665 chr14 94561091 94569913 + SERPINA4 protein_coding 5267 GO:0070062, GO:0031089, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, platelet dense granule lumen, extracellular space, extracellular space, extracellular region, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, GO:0002576, negative regulation of endopeptidase activity, platelet degranulation, 0 0 0 0 0 0 0 0 0 ENSG00000100678 chr14 70044217 70189070 - SLC8A3 protein_coding This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]. 6547 GO:0098794, GO:0048471, GO:0045202, GO:0045202, GO:0043679, GO:0043204, GO:0043197, GO:0043025, GO:0042383, GO:0042383, GO:0031594, GO:0031226, GO:0030425, GO:0030424, GO:0030424, GO:0016528, GO:0016020, GO:0014069, GO:0005887, GO:0005887, GO:0005886, GO:0005874, GO:0005789, GO:0005741, postsynapse, perinuclear region of cytoplasm, synapse, synapse, axon terminus, perikaryon, dendritic spine, neuronal cell body, sarcolemma, sarcolemma, neuromuscular junction, intrinsic component of plasma membrane, dendrite, axon, axon, sarcoplasm, membrane, postsynaptic density, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, microtubule, endoplasmic reticulum membrane, mitochondrial outer membrane, GO:0046872, GO:0015491, GO:0005516, GO:0005432, GO:0005432, metal ion binding, cation:cation antiporter activity, calmodulin binding, calcium:sodium antiporter activity, calcium:sodium antiporter activity, GO:1990034, GO:1903779, GO:0098815, GO:0098703, GO:0071901, GO:0071456, GO:0071320, GO:0070588, GO:0060291, GO:0051560, GO:0050808, GO:0048709, GO:0042552, GO:0035725, GO:0035725, GO:0030001, GO:0021537, GO:0014819, GO:0007613, GO:0007612, GO:0007611, GO:0007154, GO:0006874, GO:0006851, GO:0006811, calcium ion export across plasma membrane, regulation of cardiac conduction, modulation of excitatory postsynaptic potential, calcium ion import across plasma membrane, negative regulation of protein serine/threonine kinase activity, cellular response to hypoxia, cellular response to cAMP, calcium ion transmembrane transport, long-term synaptic potentiation, mitochondrial calcium ion homeostasis, synapse organization, oligodendrocyte differentiation, myelination, sodium ion transmembrane transport, sodium ion transmembrane transport, metal ion transport, telencephalon development, regulation of skeletal muscle contraction, memory, learning, learning or memory, cell communication, cellular calcium ion homeostasis, mitochondrial calcium ion transmembrane transport, ion transport, 0 1 0 0 0 0 0 0 0 ENSG00000100697 chr14 95086228 95158010 - DICER1 protein_coding This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]. 23405 GO:0070578, GO:0070062, GO:0048471, GO:0033167, GO:0030426, GO:0030425, GO:0016442, GO:0016442, GO:0016442, GO:0005829, GO:0005793, GO:0005737, GO:0005634, RISC-loading complex, extracellular exosome, perinuclear region of cytoplasm, ARC complex, growth cone, dendrite, RISC complex, RISC complex, RISC complex, cytosol, endoplasmic reticulum-Golgi intermediate compartment, cytoplasm, nucleus, GO:0070883, GO:0070883, GO:0046872, GO:0035197, GO:0019904, GO:0005524, GO:0005515, GO:0004530, GO:0004525, GO:0004525, GO:0004525, GO:0004521, GO:0004521, GO:0004521, GO:0004386, GO:0003725, GO:0003725, GO:0003723, GO:0003677, pre-miRNA binding, pre-miRNA binding, metal ion binding, siRNA binding, protein domain specific binding, ATP binding, protein binding, deoxyribonuclease I activity, ribonuclease III activity, ribonuclease III activity, ribonuclease III activity, endoribonuclease activity, endoribonuclease activity, endoribonuclease activity, helicase activity, double-stranded RNA binding, double-stranded RNA binding, RNA binding, DNA binding, GO:0090502, GO:0090501, GO:0048812, GO:0038061, GO:0036404, GO:0035280, GO:0035196, GO:0035196, GO:0035196, GO:0035148, GO:0035087, GO:0033168, GO:0032720, GO:0032290, GO:0031643, GO:0031054, GO:0031054, GO:0030423, GO:0030422, GO:0030422, GO:0030422, GO:0021675, GO:0014040, GO:0010629, GO:0010626, GO:0010586, GO:0006309, GO:0000122, RNA phosphodiester bond hydrolysis, endonucleolytic, RNA phosphodiester bond hydrolysis, neuron projection morphogenesis, NIK/NF-kappaB signaling, conversion of ds siRNA to ss siRNA, miRNA loading onto RISC involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, tube formation, siRNA loading onto RISC involved in RNA interference, conversion of ds siRNA to ss siRNA involved in RNA interference, negative regulation of tumor necrosis factor production, peripheral nervous system myelin formation, positive regulation of myelination, pre-miRNA processing, pre-miRNA processing, targeting of mRNA for destruction involved in RNA interference, production of siRNA involved in RNA interference, production of siRNA involved in RNA interference, production of siRNA involved in RNA interference, nerve development, positive regulation of Schwann cell differentiation, negative regulation of gene expression, negative regulation of Schwann cell proliferation, miRNA metabolic process, apoptotic DNA fragmentation, negative regulation of transcription by RNA polymerase II, 3268 4077 3127 2174 4224 2782 2671 3066 2396 ENSG00000100711 chr14 103715730 103733668 + ZFYVE21 protein_coding 79038 GO:0005925, GO:0005768, focal adhesion, endosome, GO:0046872, GO:0005515, metal ion binding, protein binding, 71 88 101 45 67 32 63 65 75 ENSG00000100714 chr14 64388031 64463457 + MTHFD1 protein_coding This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]. 4522 GO:0070062, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005739, extracellular exosome, membrane, cytosol, cytosol, cytosol, mitochondrion, GO:0005524, GO:0005515, GO:0004488, GO:0004487, GO:0004486, GO:0004477, GO:0004477, GO:0004329, GO:0004329, ATP binding, protein binding, methylenetetrahydrofolate dehydrogenase (NADP+) activity, methylenetetrahydrofolate dehydrogenase (NAD+) activity, methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity, methenyltetrahydrofolate cyclohydrolase activity, methenyltetrahydrofolate cyclohydrolase activity, formate-tetrahydrofolate ligase activity, formate-tetrahydrofolate ligase activity, GO:0061053, GO:0055114, GO:0048703, GO:0048702, GO:0046655, GO:0035999, GO:0035999, GO:0035999, GO:0035999, GO:0009257, GO:0009257, GO:0009086, GO:0009070, GO:0009069, GO:0007507, GO:0006730, GO:0006555, GO:0006164, GO:0001843, GO:0000105, somite development, oxidation-reduction process, embryonic viscerocranium morphogenesis, embryonic neurocranium morphogenesis, folic acid metabolic process, tetrahydrofolate interconversion, tetrahydrofolate interconversion, tetrahydrofolate interconversion, tetrahydrofolate interconversion, 10-formyltetrahydrofolate biosynthetic process, 10-formyltetrahydrofolate biosynthetic process, methionine biosynthetic process, serine family amino acid biosynthetic process, serine family amino acid metabolic process, heart development, one-carbon metabolic process, methionine metabolic process, purine nucleotide biosynthetic process, neural tube closure, histidine biosynthetic process, 27 14 37 68 38 100 69 15 58 ENSG00000100721 chr14 95709967 95714196 - TCL1A protein_coding Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]. 8115 GO:0032991, GO:0005829, GO:0005783, GO:0005654, protein-containing complex, cytosol, endoplasmic reticulum, nucleoplasm, GO:0043539, GO:0043539, GO:0042802, GO:0042802, GO:0019901, GO:0005515, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, identical protein binding, identical protein binding, protein kinase binding, protein binding, GO:0071902, GO:0071356, GO:0043066, GO:0033138, GO:0033138, GO:0031334, GO:0010918, GO:0008284, GO:0007275, positive regulation of protein serine/threonine kinase activity, cellular response to tumor necrosis factor, negative regulation of apoptotic process, positive regulation of peptidyl-serine phosphorylation, positive regulation of peptidyl-serine phosphorylation, positive regulation of protein-containing complex assembly, positive regulation of mitochondrial membrane potential, positive regulation of cell population proliferation, multicellular organism development, 1 4 0 9 24 7 13 24 2 ENSG00000100722 chr14 88562909 88627596 + ZC3H14 protein_coding The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]. 79882 GO:1990904, GO:1904115, GO:0032839, GO:0016607, GO:0005737, GO:0005730, GO:0005634, GO:0005634, ribonucleoprotein complex, axon cytoplasm, dendrite cytoplasm, nuclear speck, cytoplasm, nucleolus, nucleus, nucleus, GO:0046872, GO:0008143, GO:0005515, GO:0003723, metal ion binding, poly(A) binding, protein binding, RNA binding, GO:1900364, GO:0043488, negative regulation of mRNA polyadenylation, regulation of mRNA stability, 62 51 76 118 58 127 79 58 96 ENSG00000100726 chr16 1493344 1510457 + TELO2 protein_coding This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]. 9894 GO:0070209, GO:0034399, GO:0031932, GO:0031932, GO:0031931, GO:0031931, GO:0016604, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0000781, ASTRA complex, nuclear periphery, TORC2 complex, TORC2 complex, TORC1 complex, TORC1 complex, nuclear body, membrane, cytosol, cytosol, cytoplasm, nucleus, chromosome, telomeric region, GO:0060090, GO:0051879, GO:0051879, GO:0044877, GO:0042162, GO:0019901, GO:0005515, molecular adaptor activity, Hsp90 protein binding, Hsp90 protein binding, protein-containing complex binding, telomeric DNA binding, protein kinase binding, protein binding, GO:1904515, GO:1904263, GO:0071902, GO:0050821, GO:0050821, GO:0032006, GO:0007004, positive regulation of TORC2 signaling, positive regulation of TORC1 signaling, positive regulation of protein serine/threonine kinase activity, protein stabilization, protein stabilization, regulation of TOR signaling, telomere maintenance via telomerase, 46 57 69 75 77 56 75 56 65 ENSG00000100731 chr14 70907405 71115382 + PCNX1 protein_coding This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]. 22990 GO:0016021, integral component of membrane, 4595 4743 5825 2342 3525 3149 3200 2680 2685 ENSG00000100739 chr14 96255824 96268967 + BDKRB1 protein_coding Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. The protein encoded by this gene belongs to the G-protein coupled receptor 1 family. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. [provided by RefSeq, Aug 2020]. 623 GO:0043005, GO:0005887, GO:0005886, GO:0005886, GO:0005783, neuron projection, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0042277, GO:0005515, GO:0004947, GO:0004930, peptide binding, protein binding, bradykinin receptor activity, G protein-coupled receptor activity, GO:0051281, GO:0045776, GO:0032496, GO:0030308, GO:0019233, GO:0016477, GO:0009612, GO:0007204, GO:0007186, GO:0007186, GO:0006954, GO:0002687, GO:0001933, positive regulation of release of sequestered calcium ion into cytosol, negative regulation of blood pressure, response to lipopolysaccharide, negative regulation of cell growth, sensory perception of pain, cell migration, response to mechanical stimulus, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, positive regulation of leukocyte migration, negative regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000100744 chr14 96363452 96387288 + GSKIP protein_coding This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]. 51527 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0051018, GO:0051018, GO:0034237, GO:0019901, GO:0019207, GO:0008013, GO:0005515, GO:0004860, GO:0004860, protein kinase A binding, protein kinase A binding, protein kinase A regulatory subunit binding, protein kinase binding, kinase regulator activity, beta-catenin binding, protein binding, protein kinase inhibitor activity, protein kinase inhibitor activity, GO:0090263, GO:0030111, GO:0030111, GO:0008631, GO:0006469, positive regulation of canonical Wnt signaling pathway, regulation of Wnt signaling pathway, regulation of Wnt signaling pathway, intrinsic apoptotic signaling pathway in response to oxidative stress, negative regulation of protein kinase activity, 153 150 163 75 121 91 69 99 102 ENSG00000100749 chr14 96797304 96931722 + VRK1 protein_coding This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]. 7443 GO:0005829, GO:0005829, GO:0005819, GO:0005795, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, spindle, Golgi stack, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0072354, GO:0035175, GO:0031493, GO:0019901, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, histone kinase activity (H3-T3 specific), histone kinase activity (H3-S10 specific), nucleosomal histone binding, protein kinase binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0090166, GO:0072355, GO:0051301, GO:0046777, GO:0043987, GO:0018105, GO:0007084, GO:0007077, GO:0006468, Golgi disassembly, histone H3-T3 phosphorylation, cell division, protein autophosphorylation, histone H3-S10 phosphorylation, peptidyl-serine phosphorylation, mitotic nuclear envelope reassembly, mitotic nuclear envelope disassembly, protein phosphorylation, 37 38 62 71 44 68 31 50 55 ENSG00000100764 chr14 90256495 90275429 + PSMC1 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]. 5700 GO:0022624, GO:0016020, GO:0008540, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000502, proteasome accessory complex, membrane, proteasome regulatory particle, base subcomplex, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, proteasome complex, GO:0036402, GO:0017025, GO:0016887, GO:0005524, GO:0005515, GO:0003723, proteasome-activating ATPase activity, TBP-class protein binding, ATPase activity, ATP binding, protein binding, RNA binding, GO:1902036, GO:1901990, GO:1901800, GO:1901215, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0006457, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of proteasomal protein catabolic process, negative regulation of neuron death, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, protein folding, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 588 537 668 255 488 409 393 429 345 ENSG00000100767 chr14 73237497 73274640 + PAPLN protein_coding 89932 GO:0031012, extracellular matrix, GO:0004867, GO:0004222, serine-type endopeptidase inhibitor activity, metalloendopeptidase activity, GO:0030198, GO:0010951, GO:0006508, extracellular matrix organization, negative regulation of endopeptidase activity, proteolysis, 92 133 97 118 231 205 181 159 114 ENSG00000100784 chr14 90847862 91060636 - RPS6KA5 protein_coding 9252 GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:0070498, GO:0051092, GO:0045944, GO:0045892, GO:0043990, GO:0043988, GO:0043987, GO:0035556, GO:0035066, GO:0033129, GO:0032793, GO:0018105, GO:0016572, GO:0016572, GO:0016572, GO:0007411, GO:0007173, GO:0006954, GO:0006468, GO:0006355, GO:0006355, GO:0006355, GO:0002223, GO:0001818, interleukin-1-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, histone H2A-S1 phosphorylation, histone H3-S28 phosphorylation, histone H3-S10 phosphorylation, intracellular signal transduction, positive regulation of histone acetylation, positive regulation of histone phosphorylation, positive regulation of CREB transcription factor activity, peptidyl-serine phosphorylation, histone phosphorylation, histone phosphorylation, histone phosphorylation, axon guidance, epidermal growth factor receptor signaling pathway, inflammatory response, protein phosphorylation, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, stimulatory C-type lectin receptor signaling pathway, negative regulation of cytokine production, 1348 1400 1463 1018 1889 1326 1178 1354 1098 ENSG00000100796 chr14 91457611 91510554 - PPP4R3A protein_coding 55671 GO:0016607, GO:0005829, GO:0005815, GO:0005654, nuclear speck, cytosol, microtubule organizing center, nucleoplasm, 1993 1683 2503 1536 1637 1647 1761 1375 1390 ENSG00000100802 chr14 22985908 23010166 - C14orf93 protein_coding 60686 GO:0005576, extracellular region, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0048856, GO:0030154, GO:0010628, anatomical structure development, cell differentiation, positive regulation of gene expression, 98 83 74 106 126 102 111 63 74 ENSG00000100804 chr14 23016543 23035230 - PSMB5 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]. 5693 GO:0070062, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000502, extracellular exosome, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0008233, GO:0005515, GO:0004298, GO:0004175, peptidase activity, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006979, GO:0006521, GO:0006508, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, response to oxidative stress, regulation of cellular amino acid metabolic process, proteolysis, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 29 15 21 16 23 32 39 22 24 ENSG00000100811 chr14 100238298 100282792 + YY1 protein_coding YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008]. 7528 GO:0031519, GO:0031011, GO:0016363, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, PcG protein complex, Ino80 complex, nuclear matrix, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0046332, GO:0005515, GO:0003723, GO:0003677, GO:0001227, GO:0001227, GO:0001217, GO:0000987, GO:0000987, GO:0000981, GO:0000978, GO:0000976, GO:0000400, sequence-specific double-stranded DNA binding, metal ion binding, SMAD binding, protein binding, RNA binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, cis-regulatory region sequence-specific DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, four-way junction DNA binding, GO:1902894, GO:0071347, GO:0061052, GO:0051276, GO:0048593, GO:0045944, GO:0034696, GO:0034644, GO:0032688, GO:0030154, GO:0016579, GO:0010629, GO:0010225, GO:0009952, GO:0007283, GO:0006974, GO:0006403, GO:0006357, GO:0006357, GO:0000724, GO:0000122, negative regulation of pri-miRNA transcription by RNA polymerase II, cellular response to interleukin-1, negative regulation of cell growth involved in cardiac muscle cell development, chromosome organization, camera-type eye morphogenesis, positive regulation of transcription by RNA polymerase II, response to prostaglandin F, cellular response to UV, negative regulation of interferon-beta production, cell differentiation, protein deubiquitination, negative regulation of gene expression, response to UV-C, anterior/posterior pattern specification, spermatogenesis, cellular response to DNA damage stimulus, RNA localization, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, double-strand break repair via homologous recombination, negative regulation of transcription by RNA polymerase II, 1289 1289 1503 452 897 641 560 743 617 ENSG00000100813 chr14 23058564 23095614 - ACIN1 protein_coding Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 22985 GO:0061574, GO:0016607, GO:0005886, GO:0005829, GO:0005829, GO:0005730, GO:0005654, GO:0005634, ASAP complex, nuclear speck, plasma membrane, cytosol, cytosol, nucleolus, nucleoplasm, nucleus, GO:0019899, GO:0016887, GO:0005515, GO:0003723, GO:0003676, enzyme binding, ATPase activity, protein binding, RNA binding, nucleic acid binding, GO:0045657, GO:0030263, GO:0030218, GO:0008380, GO:0006397, positive regulation of monocyte differentiation, apoptotic chromosome condensation, erythrocyte differentiation, RNA splicing, mRNA processing, 2335 2404 2818 2571 3016 3166 2695 2153 2583 ENSG00000100814 chr14 20311368 20333312 - CCNB1IP1 protein_coding HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]. 57820 GO:0000795, synaptonemal complex, GO:0061630, GO:0046872, GO:0042802, GO:0005515, ubiquitin protein ligase activity, metal ion binding, identical protein binding, protein binding, GO:0051026, GO:0016567, GO:0007286, GO:0007131, GO:0007131, GO:0001825, chiasma assembly, protein ubiquitination, spermatid development, reciprocal meiotic recombination, reciprocal meiotic recombination, blastocyst formation, 8 10 18 44 39 51 18 24 33 ENSG00000100815 chr14 91965991 92040896 - TRIP11 protein_coding This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]. 9321 GO:0033116, GO:0030133, GO:0016607, GO:0005929, GO:0005856, GO:0005801, GO:0005794, GO:0005793, GO:0005654, GO:0002081, GO:0002079, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, transport vesicle, nuclear speck, cilium, cytoskeleton, cis-Golgi network, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, nucleoplasm, outer acrosomal membrane, inner acrosomal membrane, Golgi membrane, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:1903508, GO:0099041, GO:0090161, GO:0060122, GO:0051216, GO:0035735, GO:0006486, GO:0006366, GO:0003413, GO:0003281, positive regulation of nucleic acid-templated transcription, vesicle tethering to Golgi, Golgi ribbon formation, inner ear receptor cell stereocilium organization, cartilage development, intraciliary transport involved in cilium assembly, protein glycosylation, transcription by RNA polymerase II, chondrocyte differentiation involved in endochondral bone morphogenesis, ventricular septum development, 214 215 222 252 268 328 233 199 248 ENSG00000100823 chr14 20455191 20457772 + APEX1 protein_coding The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]. 328 GO:0048471, GO:0016607, GO:0005840, GO:0005813, GO:0005783, GO:0005739, GO:0005737, GO:0005730, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, perinuclear region of cytoplasm, nuclear speck, ribosome, centrosome, endoplasmic reticulum, mitochondrion, cytoplasm, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0051059, GO:0046872, GO:0044877, GO:0031490, GO:0016890, GO:0016491, GO:0008408, GO:0008408, GO:0008311, GO:0008309, GO:0008081, GO:0005515, GO:0004844, GO:0004528, GO:0004528, GO:0004523, GO:0004520, GO:0004519, GO:0003906, GO:0003906, GO:0003906, GO:0003723, GO:0003714, GO:0003713, GO:0003691, GO:0003684, GO:0003677, NF-kappaB binding, metal ion binding, protein-containing complex binding, chromatin DNA binding, site-specific endodeoxyribonuclease activity, specific for altered base, oxidoreductase activity, 3'-5' exonuclease activity, 3'-5' exonuclease activity, double-stranded DNA 3'-5' exodeoxyribonuclease activity, double-stranded DNA exodeoxyribonuclease activity, phosphoric diester hydrolase activity, protein binding, uracil DNA N-glycosylase activity, phosphodiesterase I activity, phosphodiesterase I activity, RNA-DNA hybrid ribonuclease activity, endodeoxyribonuclease activity, endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, RNA binding, transcription corepressor activity, transcription coactivator activity, double-stranded telomeric DNA binding, damaged DNA binding, DNA binding, GO:1903507, GO:1900087, GO:0097698, GO:0090502, GO:0080111, GO:0071375, GO:0071320, GO:0070301, GO:0055114, GO:0045944, GO:0045454, GO:0043488, GO:0042981, GO:0042493, GO:0014912, GO:0007568, GO:0006310, GO:0006286, GO:0006284, GO:0006284, GO:0006284, GO:0006281, GO:0000723, negative regulation of nucleic acid-templated transcription, positive regulation of G1/S transition of mitotic cell cycle, telomere maintenance via base-excision repair, RNA phosphodiester bond hydrolysis, endonucleolytic, DNA demethylation, cellular response to peptide hormone stimulus, cellular response to cAMP, cellular response to hydrogen peroxide, oxidation-reduction process, positive regulation of transcription by RNA polymerase II, cell redox homeostasis, regulation of mRNA stability, regulation of apoptotic process, response to drug, negative regulation of smooth muscle cell migration, aging, DNA recombination, base-excision repair, base-free sugar-phosphate removal, base-excision repair, base-excision repair, base-excision repair, DNA repair, telomere maintenance, 27 24 75 279 204 242 196 165 166 ENSG00000100836 chr14 23321289 23326185 + PABPN1 protein_coding This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]. 8106 GO:1990904, GO:0042405, GO:0016607, GO:0005737, GO:0005654, GO:0005634, ribonucleoprotein complex, nuclear inclusion body, nuclear speck, cytoplasm, nucleoplasm, nucleus, GO:0070063, GO:0005515, GO:0003723, RNA polymerase binding, protein binding, RNA binding, GO:1904247, GO:0071222, GO:0046778, GO:0031124, GO:0016973, GO:0006936, GO:0006396, GO:0006369, GO:0000398, GO:0000165, positive regulation of polynucleotide adenylyltransferase activity, cellular response to lipopolysaccharide, modification by virus of host mRNA processing, mRNA 3'-end processing, poly(A)+ mRNA export from nucleus, muscle contraction, RNA processing, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, MAPK cascade, 612 616 782 597 713 713 551 603 664 ENSG00000100842 chr14 23356402 23365752 - EFS protein_coding The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of SRC family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]. 10278 GO:0005925, GO:0005886, GO:0005737, focal adhesion, plasma membrane, cytoplasm, GO:0019904, GO:0017124, GO:0005515, protein domain specific binding, SH3 domain binding, protein binding, GO:0090527, GO:0035556, GO:0016477, GO:0007169, GO:0007155, actin filament reorganization, intracellular signal transduction, cell migration, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000100852 chr14 32076114 32159728 + ARHGAP5 protein_coding Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 394 GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005783, GO:0005737, plasma membrane, cytosol, cytosol, cytosol, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0042169, GO:0042169, GO:0005525, GO:0005515, GO:0005096, GO:0003924, SH2 domain binding, SH2 domain binding, GTP binding, protein binding, GTPase activator activity, GTPase activity, GO:0051056, GO:0043547, GO:0007266, GO:0007155, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, Rho protein signal transduction, cell adhesion, 107 54 124 145 85 169 157 71 129 ENSG00000100865 chr14 102341102 102362916 - CINP protein_coding The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 51550 GO:0005634, nucleus, GO:0005515, protein binding, GO:0051301, GO:0007049, GO:0006281, GO:0006260, cell division, cell cycle, DNA repair, DNA replication, 330 278 297 207 283 259 194 241 189 ENSG00000100867 chr14 23630115 23645639 + DHRS2 protein_coding This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative promoter use and alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 10202 GO:0005759, GO:0005739, GO:0005737, GO:0005654, GO:0005635, GO:0005634, mitochondrial matrix, mitochondrion, cytoplasm, nucleoplasm, nuclear envelope, nucleus, GO:0005515, GO:0004090, protein binding, carbonyl reductase (NADPH) activity, GO:0055114, GO:0043066, GO:0043011, GO:0034599, GO:0009636, GO:0008285, GO:0008207, oxidation-reduction process, negative regulation of apoptotic process, myeloid dendritic cell differentiation, cellular response to oxidative stress, response to toxic substance, negative regulation of cell population proliferation, C21-steroid hormone metabolic process, 0 1 0 0 0 0 0 0 0 ENSG00000100883 chr14 34981957 35029567 + SRP54 protein_coding 6729 GO:0016607, GO:0005829, GO:0005829, GO:0005829, GO:0005786, GO:0005786, GO:0005783, GO:0005737, GO:0005730, GO:0005634, nuclear speck, cytosol, cytosol, cytosol, signal recognition particle, endoplasmic reticulum targeting, signal recognition particle, endoplasmic reticulum targeting, endoplasmic reticulum, cytoplasm, nucleolus, nucleus, GO:0043021, GO:0030942, GO:0030942, GO:0019003, GO:0008312, GO:0008312, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, GO:0003723, ribonucleoprotein complex binding, endoplasmic reticulum signal peptide binding, endoplasmic reticulum signal peptide binding, GDP binding, 7S RNA binding, 7S RNA binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, RNA binding, GO:0045047, GO:0031017, GO:0030851, GO:0030593, GO:0006617, GO:0006616, GO:0006616, GO:0006614, GO:0006614, protein targeting to ER, exocrine pancreas development, granulocyte differentiation, neutrophil chemotaxis, SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition, SRP-dependent cotranslational protein targeting to membrane, translocation, SRP-dependent cotranslational protein targeting to membrane, translocation, SRP-dependent cotranslational protein targeting to membrane, SRP-dependent cotranslational protein targeting to membrane, 658 455 793 581 626 816 576 462 465 ENSG00000100884 chr14 24070837 24078100 + CPNE6 protein_coding This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013]. 9362 GO:0070062, GO:0045202, GO:0043204, GO:0030425, GO:0030424, GO:0030136, GO:0016020, GO:0005886, GO:0005886, GO:0005768, extracellular exosome, synapse, perikaryon, dendrite, axon, clathrin-coated vesicle, membrane, plasma membrane, plasma membrane, endosome, GO:0005544, GO:0005515, GO:0005509, GO:0005215, GO:0001786, calcium-dependent phospholipid binding, protein binding, calcium ion binding, transporter activity, phosphatidylserine binding, GO:1903861, GO:0071277, GO:0046474, GO:0016192, GO:0007399, GO:0007268, GO:0006629, positive regulation of dendrite extension, cellular response to calcium ion, glycerophospholipid biosynthetic process, vesicle-mediated transport, nervous system development, chemical synaptic transmission, lipid metabolic process, 0 0 0 0 0 0 0 1 0 ENSG00000100888 chr14 21385194 21456126 - CHD8 protein_coding This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]. 57680 GO:0071339, GO:0032991, GO:0005886, GO:0005654, GO:0005654, GO:0005634, MLL1 complex, protein-containing complex, plasma membrane, nucleoplasm, nucleoplasm, nucleus, GO:0070016, GO:0042393, GO:0035064, GO:0008094, GO:0008013, GO:0005524, GO:0005515, GO:0003682, GO:0003678, GO:0003677, GO:0002039, armadillo repeat domain binding, histone binding, methylated histone binding, DNA-dependent ATPase activity, beta-catenin binding, ATP binding, protein binding, chromatin binding, DNA helicase activity, DNA binding, p53 binding, GO:2000270, GO:0090090, GO:0060134, GO:0048565, GO:0045945, GO:0045944, GO:0045893, GO:0045892, GO:0043044, GO:0035176, GO:0032508, GO:0016055, GO:0007420, GO:0001701, GO:0000122, negative regulation of fibroblast apoptotic process, negative regulation of canonical Wnt signaling pathway, prepulse inhibition, digestive tract development, positive regulation of transcription by RNA polymerase III, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, ATP-dependent chromatin remodeling, social behavior, DNA duplex unwinding, Wnt signaling pathway, brain development, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 1249 1376 1394 749 962 934 876 712 839 ENSG00000100889 chr14 24094053 24110598 + PCK2 protein_coding This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]. 5106 GO:0005829, GO:0005759, GO:0005739, GO:0005739, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0030145, GO:0005525, GO:0005515, GO:0004613, GO:0004613, GO:0004611, manganese ion binding, GTP binding, protein binding, phosphoenolpyruvate carboxykinase (GTP) activity, phosphoenolpyruvate carboxykinase (GTP) activity, phosphoenolpyruvate carboxykinase activity, GO:0071549, GO:0071333, GO:0070365, GO:0046327, GO:0042594, GO:0033993, GO:0032869, GO:0019543, GO:0006094, GO:0006094, GO:0006094, cellular response to dexamethasone stimulus, cellular response to glucose stimulus, hepatocyte differentiation, glycerol biosynthetic process from pyruvate, response to starvation, response to lipid, cellular response to insulin stimulus, propionate catabolic process, gluconeogenesis, gluconeogenesis, gluconeogenesis, 20 25 22 29 25 41 32 15 44 ENSG00000100890 chr14 35121846 35277614 + KIAA0391 protein_coding 9692 GO:0030678, GO:0030678, GO:0030678, GO:0005759, GO:0005739, GO:0005654, mitochondrial ribonuclease P complex, mitochondrial ribonuclease P complex, mitochondrial ribonuclease P complex, mitochondrial matrix, mitochondrion, nucleoplasm, GO:0046872, GO:0004526, GO:0004526, GO:0004526, metal ion binding, ribonuclease P activity, ribonuclease P activity, ribonuclease P activity, GO:0097745, GO:0097745, GO:0090646, GO:0090502, GO:0070901, GO:0001682, mitochondrial tRNA 5'-end processing, mitochondrial tRNA 5'-end processing, mitochondrial tRNA processing, RNA phosphodiester bond hydrolysis, endonucleolytic, mitochondrial tRNA methylation, tRNA 5'-leader removal, 69 42 73 56 46 99 60 39 52 ENSG00000100897 chr14 24114195 24125242 + DCAF11 protein_coding This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]. 80344 GO:0080008, GO:0080008, GO:0005654, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0043161, GO:0016567, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, 1258 1385 1333 2948 3521 3963 3134 2482 3197 ENSG00000100902 chr14 35278633 35317493 + PSMA6 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]. 5687 GO:0070062, GO:0030017, GO:0030016, GO:0019773, GO:0019773, GO:0019773, GO:0019773, GO:0016363, GO:0005844, GO:0005839, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000932, GO:0000502, extracellular exosome, sarcomere, myofibril, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, nuclear matrix, polysome, proteasome core complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, P-body, proteasome complex, GO:0051059, GO:0035639, GO:0005515, GO:0004175, GO:0004175, GO:0003723, GO:0003723, NF-kappaB binding, purine ribonucleoside triphosphate binding, protein binding, endopeptidase activity, endopeptidase activity, RNA binding, RNA binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0051603, GO:0051092, GO:0050852, GO:0050727, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, proteolysis involved in cellular protein catabolic process, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, regulation of inflammatory response, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 24 20 41 10 24 35 6 11 24 ENSG00000100906 chr14 35401511 35404749 - NFKBIA protein_coding This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]. 4792 GO:0033256, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, I-kappaB/NF-kappaB complex, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0051059, GO:0051059, GO:0042802, GO:0031625, GO:0019899, GO:0008139, GO:0008134, GO:0005515, NF-kappaB binding, NF-kappaB binding, identical protein binding, ubiquitin protein ligase binding, enzyme binding, nuclear localization sequence binding, transcription factor binding, protein binding, GO:1901222, GO:0070498, GO:0070417, GO:0050729, GO:0045944, GO:0045944, GO:0043392, GO:0043066, GO:0042994, GO:0033209, GO:0032270, GO:0032088, GO:0016579, GO:0016032, GO:0010888, GO:0010875, GO:0010745, GO:0007253, GO:0007249, GO:0006915, regulation of NIK/NF-kappaB signaling, interleukin-1-mediated signaling pathway, cellular response to cold, positive regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of DNA binding, negative regulation of apoptotic process, cytoplasmic sequestering of transcription factor, tumor necrosis factor-mediated signaling pathway, positive regulation of cellular protein metabolic process, negative regulation of NF-kappaB transcription factor activity, protein deubiquitination, viral process, negative regulation of lipid storage, positive regulation of cholesterol efflux, negative regulation of macrophage derived foam cell differentiation, cytoplasmic sequestering of NF-kappaB, I-kappaB kinase/NF-kappaB signaling, apoptotic process, 3416 5135 14611 5116 11833 49624 34389 27427 73512 ENSG00000100908 chr14 24138959 24141588 - EMC9 protein_coding 51016 GO:0072546, GO:0072546, GO:0005737, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, cytoplasm, GO:0005515, protein binding, 124 54 89 58 58 55 83 60 47 ENSG00000100911 chr14 24143362 24147570 - PSME2 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008]. 5721 GO:0070062, GO:0016020, GO:0008537, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0000502, extracellular exosome, membrane, proteasome activator complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, proteasome complex, GO:0061133, GO:0042802, GO:0005515, endopeptidase activator activity, identical protein binding, protein binding, GO:2000045, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0061136, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0035722, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010950, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of G1/S transition of mitotic cell cycle, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of proteasomal protein catabolic process, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, interleukin-12-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, positive regulation of endopeptidase activity, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 449 401 496 385 398 455 392 322 349 ENSG00000100916 chr14 35826318 35932325 + BRMS1L protein_coding The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]. 84312 GO:0070822, Sin3-type complex, GO:0042826, GO:0005515, GO:0004407, histone deacetylase binding, protein binding, histone deacetylase activity, GO:0040008, GO:0016575, GO:0000122, regulation of growth, histone deacetylation, negative regulation of transcription by RNA polymerase II, 14 6 17 13 14 20 17 10 18 ENSG00000100918 chr14 24171853 24180257 + REC8 protein_coding This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]. 9985 GO:0034991, GO:0034990, GO:0005634, GO:0001673, GO:0000800, GO:0000795, GO:0000785, GO:0000779, GO:0000778, nuclear meiotic cohesin complex, nuclear mitotic cohesin complex, nucleus, male germ cell nucleus, lateral element, synaptonemal complex, chromatin, condensed chromosome, centromeric region, condensed nuclear chromosome kinetochore, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:1990414, GO:0072520, GO:0051321, GO:0051177, GO:0009566, GO:0007286, GO:0007283, GO:0007141, GO:0007131, GO:0007130, GO:0007064, GO:0007062, GO:0001556, replication-born double-strand break repair via sister chromatid exchange, seminiferous tubule development, meiotic cell cycle, meiotic sister chromatid cohesion, fertilization, spermatid development, spermatogenesis, male meiosis I, reciprocal meiotic recombination, synaptonemal complex assembly, mitotic sister chromatid cohesion, sister chromatid cohesion, oocyte maturation, 638 598 722 846 713 966 861 492 696 ENSG00000100926 chr14 24189143 24195687 - TM9SF1 protein_coding 10548 GO:0031410, GO:0016021, GO:0016020, GO:0005765, GO:0000421, cytoplasmic vesicle, integral component of membrane, membrane, lysosomal membrane, autophagosome membrane, GO:0072657, GO:0006914, protein localization to membrane, autophagy, 27 34 31 24 33 35 34 17 25 ENSG00000100934 chr14 39031919 39109646 - SEC23A protein_coding The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]. 10484 GO:0070971, GO:0070971, GO:0048471, GO:0030127, GO:0030127, GO:0019898, GO:0012507, GO:0012507, GO:0005829, GO:0005829, GO:0005789, GO:0000139, endoplasmic reticulum exit site, endoplasmic reticulum exit site, perinuclear region of cytoplasm, COPII vesicle coat, COPII vesicle coat, extrinsic component of membrane, ER to Golgi transport vesicle membrane, ER to Golgi transport vesicle membrane, cytosol, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0008270, GO:0005515, GO:0005096, zinc ion binding, protein binding, GTPase activator activity, GO:0090110, GO:0090110, GO:0090110, GO:0072659, GO:0048208, GO:0043547, GO:0019886, GO:0006888, GO:0006886, GO:0002474, COPII-coated vesicle cargo loading, COPII-coated vesicle cargo loading, COPII-coated vesicle cargo loading, protein localization to plasma membrane, COPII vesicle coating, positive regulation of GTPase activity, antigen processing and presentation of exogenous peptide antigen via MHC class II, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, antigen processing and presentation of peptide antigen via MHC class I, 382 259 457 205 224 308 232 192 189 ENSG00000100938 chr14 24232422 24239242 + GMPR2 protein_coding This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. 51292 GO:1902560, GO:0005829, GMP reductase complex, cytosol, GO:0046872, GO:0005515, GO:0003920, metal ion binding, protein binding, GMP reductase activity, GO:0055114, GO:0046037, GO:0043101, GO:0006144, oxidation-reduction process, GMP metabolic process, purine-containing compound salvage, purine nucleobase metabolic process, 1894 1678 1927 1211 1453 1463 1360 1145 1256 ENSG00000100941 chr14 39175183 39183218 + PNN protein_coding 5411 GO:0071013, GO:0071013, GO:0035145, GO:0030057, GO:0016607, GO:0016020, GO:0005911, GO:0005886, GO:0005882, catalytic step 2 spliceosome, catalytic step 2 spliceosome, exon-exon junction complex, desmosome, nuclear speck, membrane, cell-cell junction, plasma membrane, intermediate filament, GO:0005515, GO:0005198, GO:0003723, GO:0003677, protein binding, structural molecule activity, RNA binding, DNA binding, GO:0007155, GO:0000398, cell adhesion, mRNA splicing, via spliceosome, 1010 1068 1257 1185 1047 1506 1193 889 1264 ENSG00000100949 chr14 24265538 24271739 - RABGGTA protein_coding 5875 GO:0005968, GO:0005968, GO:0005886, GO:0005829, GO:0005737, GO:0005654, Rab-protein geranylgeranyltransferase complex, Rab-protein geranylgeranyltransferase complex, plasma membrane, cytosol, cytoplasm, nucleoplasm, GO:0031267, GO:0008270, GO:0005515, GO:0004663, GO:0004663, small GTPase binding, zinc ion binding, protein binding, Rab geranylgeranyltransferase activity, Rab geranylgeranyltransferase activity, GO:0043687, GO:0042981, GO:0018344, GO:0018344, GO:0007601, GO:0006464, post-translational protein modification, regulation of apoptotic process, protein geranylgeranylation, protein geranylgeranylation, visual perception, cellular protein modification process, 74 77 74 108 86 86 98 48 75 ENSG00000100968 chr14 24365673 24379604 + NFATC4 protein_coding This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 4776 GO:0016607, GO:0005829, GO:0005667, GO:0005634, GO:0000785, GO:0000785, nuclear speck, cytosol, transcription regulator complex, nucleus, chromatin, chromatin, GO:1990837, GO:0042975, GO:0008134, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, peroxisome proliferator activated receptor binding, transcription factor binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001235, GO:2000297, GO:1904637, GO:1902894, GO:0071285, GO:0060291, GO:0055001, GO:0051145, GO:0050774, GO:0045333, GO:0043524, GO:0035562, GO:0034644, GO:0033173, GO:0032760, GO:0032091, GO:0031547, GO:0030178, GO:0008630, GO:0007616, GO:0007507, GO:0006954, GO:0006357, GO:0001816, GO:0001569, positive regulation of apoptotic signaling pathway, negative regulation of synapse maturation, cellular response to ionomycin, negative regulation of pri-miRNA transcription by RNA polymerase II, cellular response to lithium ion, long-term synaptic potentiation, muscle cell development, smooth muscle cell differentiation, negative regulation of dendrite morphogenesis, cellular respiration, negative regulation of neuron apoptotic process, negative regulation of chromatin binding, cellular response to UV, calcineurin-NFAT signaling cascade, positive regulation of tumor necrosis factor production, negative regulation of protein binding, brain-derived neurotrophic factor receptor signaling pathway, negative regulation of Wnt signaling pathway, intrinsic apoptotic signaling pathway in response to DNA damage, long-term memory, heart development, inflammatory response, regulation of transcription by RNA polymerase II, cytokine production, branching involved in blood vessel morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000100979 chr20 45898621 45912155 - PLTP protein_coding The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5360 GO:0034364, GO:0005634, GO:0005615, GO:0005615, GO:0005576, high-density lipoprotein particle, nucleus, extracellular space, extracellular space, extracellular region, GO:1990050, GO:1990050, GO:1904121, GO:1904121, GO:1901611, GO:1901611, GO:0140340, GO:0140339, GO:0140338, GO:0140337, GO:0120020, GO:0120019, GO:0120017, GO:0120014, GO:0120014, GO:0097001, GO:0097001, GO:0070300, GO:0070300, GO:0034189, GO:0031210, GO:0031210, GO:0030169, GO:0019992, GO:0019992, GO:0008526, GO:0008525, GO:0008429, GO:0008429, GO:0008035, phosphatidic acid transfer activity, phosphatidic acid transfer activity, phosphatidylethanolamine transfer activity, phosphatidylethanolamine transfer activity, phosphatidylglycerol binding, phosphatidylglycerol binding, cerebroside transfer activity, phosphatidylglycerol transfer activity, sphingomyelin transfer activity, diacylglyceride transfer activity, cholesterol transfer activity, phosphatidylcholine transfer activity, ceramide transfer activity, phospholipid transfer activity, phospholipid transfer activity, ceramide binding, ceramide binding, phosphatidic acid binding, phosphatidic acid binding, very-low-density lipoprotein particle binding, phosphatidylcholine binding, phosphatidylcholine binding, low-density lipoprotein particle binding, diacylglycerol binding, diacylglycerol binding, phosphatidylinositol transfer activity, phosphatidylcholine transporter activity, phosphatidylethanolamine binding, phosphatidylethanolamine binding, high-density lipoprotein particle binding, GO:0120009, GO:0046836, GO:0035627, GO:0035627, GO:0034375, GO:0034375, GO:0030317, GO:0015918, GO:0015914, GO:0015914, GO:0010875, GO:0010189, GO:0006869, GO:0006629, intermembrane lipid transfer, glycolipid transport, ceramide transport, ceramide transport, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, flagellated sperm motility, sterol transport, phospholipid transport, phospholipid transport, positive regulation of cholesterol efflux, vitamin E biosynthetic process, lipid transport, lipid metabolic process, 41 40 50 60 79 90 30 47 53 ENSG00000100982 chr20 45934628 45948023 + PCIF1 protein_coding 63935 GO:0045171, GO:0015630, GO:0005654, GO:0005634, GO:0005634, intercellular bridge, microtubule cytoskeleton, nucleoplasm, nucleus, nucleus, GO:1990269, GO:1904047, GO:0099122, GO:0016422, RNA polymerase II C-terminal domain phosphoserine binding, S-adenosyl-L-methionine binding, RNA polymerase II C-terminal domain binding, mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity, GO:0080009, GO:0045727, GO:0017148, GO:0010923, GO:0006417, mRNA methylation, positive regulation of translation, negative regulation of translation, negative regulation of phosphatase activity, regulation of translation, 585 610 709 337 544 414 399 402 336 ENSG00000100983 chr20 34928433 34956027 - GSS protein_coding Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]. 2937 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0043295, GO:0043295, GO:0042803, GO:0042802, GO:0016594, GO:0005524, GO:0005515, GO:0004363, GO:0000287, glutathione binding, glutathione binding, protein homodimerization activity, identical protein binding, glycine binding, ATP binding, protein binding, glutathione synthase activity, magnesium ion binding, GO:0046686, GO:0043200, GO:0034612, GO:0031667, GO:0009410, GO:0007568, GO:0007399, GO:0006979, GO:0006750, GO:0006750, GO:0006520, response to cadmium ion, response to amino acid, response to tumor necrosis factor, response to nutrient levels, response to xenobiotic stimulus, aging, nervous system development, response to oxidative stress, glutathione biosynthetic process, glutathione biosynthetic process, cellular amino acid metabolic process, 18 21 44 57 46 111 36 25 61 ENSG00000100985 chr20 46008908 46016561 + MMP9 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]. 4318 GO:1904813, GO:1904724, GO:0070062, GO:0062023, GO:0005615, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, collagen-containing extracellular matrix, extracellular space, extracellular region, extracellular region, GO:0042802, GO:0008270, GO:0008237, GO:0008233, GO:0005518, GO:0005515, GO:0004252, GO:0004222, GO:0004222, GO:0004222, GO:0004175, identical protein binding, zinc ion binding, metallopeptidase activity, peptidase activity, collagen binding, protein binding, serine-type endopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:2001268, GO:2001258, GO:2001243, GO:2000697, GO:1904707, GO:1904645, GO:1900122, GO:0150077, GO:0090200, GO:0071492, GO:0071276, GO:0051549, GO:0048013, GO:0045742, GO:0043388, GO:0043312, GO:0043066, GO:0035987, GO:0034614, GO:0030574, GO:0030574, GO:0030335, GO:0030335, GO:0030225, GO:0030198, GO:0022617, GO:0019221, GO:0007566, GO:0006508, GO:0001934, GO:0001501, negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, negative regulation of cation channel activity, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of epithelial cell differentiation involved in kidney development, positive regulation of vascular associated smooth muscle cell proliferation, response to amyloid-beta, positive regulation of receptor binding, regulation of neuroinflammatory response, positive regulation of release of cytochrome c from mitochondria, cellular response to UV-A, cellular response to cadmium ion, positive regulation of keratinocyte migration, ephrin receptor signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of DNA binding, neutrophil degranulation, negative regulation of apoptotic process, endodermal cell differentiation, cellular response to reactive oxygen species, collagen catabolic process, collagen catabolic process, positive regulation of cell migration, positive regulation of cell migration, macrophage differentiation, extracellular matrix organization, extracellular matrix disassembly, cytokine-mediated signaling pathway, embryo implantation, proteolysis, positive regulation of protein phosphorylation, skeletal system development, 737 1190 2038 276 925 613 533 856 744 ENSG00000100987 chr20 25070885 25082365 - VSX1 protein_coding The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 30813 GO:0005634, GO:0005575, GO:0000785, nucleus, cellular_component, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000976, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, GO:0060040, GO:0050896, GO:0048666, GO:0042551, GO:0007601, GO:0006357, GO:0006355, retinal bipolar neuron differentiation, response to stimulus, neuron development, neuron maturation, visual perception, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000100991 chr20 35002404 35092871 - TRPC4AP protein_coding 26133 GO:0031464, GO:0031464, GO:0005886, Cul4A-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, plasma membrane, GO:0019902, GO:0019902, GO:0005515, phosphatase binding, phosphatase binding, protein binding, GO:0070588, GO:0048820, GO:0016567, GO:0016567, GO:0006511, GO:0006511, calcium ion transmembrane transport, hair follicle maturation, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 1786 2009 2138 1384 1874 1557 1355 1534 1363 ENSG00000100994 chr20 25248069 25298014 + PYGB protein_coding The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]. 5834 GO:0070062, GO:0035578, GO:0016020, GO:0005737, GO:0005737, GO:0005576, extracellular exosome, azurophil granule lumen, membrane, cytoplasm, cytoplasm, extracellular region, GO:0102499, GO:0102250, GO:0030170, GO:0008184, GO:0008184, GO:0005515, SHG alpha-glucan phosphorylase activity, linear malto-oligosaccharide phosphorylase activity, pyridoxal phosphate binding, glycogen phosphorylase activity, glycogen phosphorylase activity, protein binding, GO:0043312, GO:0005980, GO:0005980, neutrophil degranulation, glycogen catabolic process, glycogen catabolic process, 106 157 251 142 137 217 131 110 191 ENSG00000100997 chr20 25294743 25390983 - ABHD12 protein_coding This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]. 26090 GO:0032839, GO:0032281, GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005789, dendrite cytoplasm, AMPA glutamate receptor complex, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0047372, GO:0047372, GO:0008474, GO:0004622, GO:0004622, GO:0004620, acylglycerol lipase activity, acylglycerol lipase activity, palmitoyl-(protein) hydrolase activity, lysophospholipase activity, lysophospholipase activity, phospholipase activity, GO:0052651, GO:0052651, GO:0050727, GO:0046475, GO:0046464, GO:0010996, GO:0009395, GO:0007628, GO:0006660, GO:0006660, GO:0002084, monoacylglycerol catabolic process, monoacylglycerol catabolic process, regulation of inflammatory response, glycerophospholipid catabolic process, acylglycerol catabolic process, response to auditory stimulus, phospholipid catabolic process, adult walking behavior, phosphatidylserine catabolic process, phosphatidylserine catabolic process, protein depalmitoylation, 28 24 54 47 32 63 47 21 38 ENSG00000101000 chr20 35172073 35216240 + PROCR protein_coding The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]. 10544 GO:0070062, GO:0048471, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005813, GO:0005615, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, centrosome, extracellular space, extracellular region, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0050819, GO:0050819, GO:0007596, negative regulation of coagulation, negative regulation of coagulation, blood coagulation, 12 8 6 8 9 13 8 4 11 ENSG00000101003 chr20 25407727 25452628 + GINS1 protein_coding The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]. 9837 GO:0071162, GO:0005737, GO:0005654, GO:0005634, GO:0000811, CMG complex, cytoplasm, nucleoplasm, nucleus, GINS complex, GO:1902983, GO:0006271, GO:0001833, DNA strand elongation involved in mitotic DNA replication, DNA strand elongation involved in DNA replication, inner cell mass cell proliferation, 0 0 1 3 0 1 7 0 0 ENSG00000101004 chr20 25452705 25585517 - NINL protein_coding 22981 GO:0045171, GO:0005874, GO:0005829, GO:0005829, GO:0005813, intercellular bridge, microtubule, cytosol, cytosol, centrosome, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0097711, GO:0034454, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, microtubule anchoring at centrosome, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 0 0 1 5 1 11 10 0 7 ENSG00000101017 chr20 46118272 46129863 + CD40 protein_coding This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]. 958 GO:0070062, GO:0043231, GO:0043196, GO:0043025, GO:0035631, GO:0035631, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005737, extracellular exosome, intracellular membrane-bounded organelle, varicosity, neuronal cell body, CD40 receptor complex, CD40 receptor complex, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0038023, GO:0031625, GO:0019904, GO:0019899, GO:0005515, GO:0003823, signaling receptor activity, ubiquitin protein ligase binding, protein domain specific binding, enzyme binding, protein binding, antigen binding, GO:2000353, GO:2000353, GO:1901652, GO:0090037, GO:0071356, GO:0071347, GO:0071260, GO:0071222, GO:0065003, GO:0051607, GO:0051092, GO:0051092, GO:0050776, GO:0048304, GO:0045944, GO:0045944, GO:0045766, GO:0045766, GO:0043547, GO:0043536, GO:0043536, GO:0043491, GO:0043406, GO:0043123, GO:0043123, GO:0042832, GO:0042531, GO:0042531, GO:0042113, GO:0042100, GO:0036018, GO:0035666, GO:0034341, GO:0033590, GO:0033209, GO:0032735, GO:0030890, GO:0030168, GO:0023035, GO:0023035, GO:0006954, GO:0006874, GO:0002768, GO:0002637, GO:0001934, positive regulation of endothelial cell apoptotic process, positive regulation of endothelial cell apoptotic process, response to peptide, positive regulation of protein kinase C signaling, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to mechanical stimulus, cellular response to lipopolysaccharide, protein-containing complex assembly, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, regulation of immune response, positive regulation of isotype switching to IgG isotypes, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of GTPase activity, positive regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, protein kinase B signaling, positive regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, defense response to protozoan, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, B cell activation, B cell proliferation, cellular response to erythropoietin, TRIF-dependent toll-like receptor signaling pathway, response to interferon-gamma, response to cobalamin, tumor necrosis factor-mediated signaling pathway, positive regulation of interleukin-12 production, positive regulation of B cell proliferation, platelet activation, CD40 signaling pathway, CD40 signaling pathway, inflammatory response, cellular calcium ion homeostasis, immune response-regulating cell surface receptor signaling pathway, regulation of immunoglobulin production, positive regulation of protein phosphorylation, 9 3 6 17 11 14 10 12 4 ENSG00000101019 chr20 35302566 35412141 - UQCC1 protein_coding This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 55245 GO:0031410, GO:0005743, cytoplasmic vesicle, mitochondrial inner membrane, GO:0005515, protein binding, GO:0070131, GO:0070131, GO:0034551, GO:0034551, positive regulation of mitochondrial translation, positive regulation of mitochondrial translation, mitochondrial respiratory chain complex III assembly, mitochondrial respiratory chain complex III assembly, 20 18 42 68 19 98 46 10 30 ENSG00000101040 chr20 47209214 47356889 - ZMYND8 protein_coding The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 23613 GO:0043198, GO:0043197, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0005634, dendritic shaft, dendritic spine, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0070577, GO:0070491, GO:0047485, GO:0035064, GO:0019904, GO:0008270, GO:0005515, GO:0003714, GO:0003714, lysine-acetylated histone binding, repressing transcription factor binding, protein N-terminus binding, methylated histone binding, protein domain specific binding, zinc ion binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:1903507, GO:1902952, GO:1902897, GO:0098815, GO:0060999, GO:0051491, GO:0030336, GO:0006355, negative regulation of nucleic acid-templated transcription, positive regulation of dendritic spine maintenance, regulation of postsynaptic density protein 95 clustering, modulation of excitatory postsynaptic potential, positive regulation of dendritic spine development, positive regulation of filopodium assembly, negative regulation of cell migration, regulation of transcription, DNA-templated, 284 419 461 253 489 456 257 299 319 ENSG00000101049 chr20 43558968 43588237 + SGK2 protein_coding This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]. 10110 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0106311, GO:0106310, GO:0017080, GO:0017080, GO:0015459, GO:0015459, GO:0005524, GO:0004674, protein threonine kinase activity, protein serine kinase activity, sodium channel regulator activity, sodium channel regulator activity, potassium channel regulator activity, potassium channel regulator activity, ATP binding, protein serine/threonine kinase activity, GO:0042127, GO:0035556, GO:0034220, GO:0032411, GO:0018105, GO:0006979, GO:0006468, GO:0001558, regulation of cell population proliferation, intracellular signal transduction, ion transmembrane transport, positive regulation of transporter activity, peptidyl-serine phosphorylation, response to oxidative stress, protein phosphorylation, regulation of cell growth, 0 0 2 1 0 0 2 0 0 ENSG00000101052 chr20 43590931 43647296 + IFT52 protein_coding This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]. 51098 GO:0097546, GO:0097542, GO:0044292, GO:0036064, GO:0032391, GO:0031514, GO:0030992, GO:0030992, GO:0005929, GO:0005929, GO:0005814, GO:0005813, ciliary base, ciliary tip, dendrite terminus, ciliary basal body, photoreceptor connecting cilium, motile cilium, intraciliary transport particle B, intraciliary transport particle B, cilium, cilium, centriole, centrosome, GO:0008022, protein C-terminus binding, GO:1905515, GO:0070613, GO:0060271, GO:0060271, GO:0050680, GO:0042733, GO:0042073, GO:0035735, GO:0035720, GO:0009953, GO:0007224, GO:0001947, GO:0001841, non-motile cilium assembly, regulation of protein processing, cilium assembly, cilium assembly, negative regulation of epithelial cell proliferation, embryonic digit morphogenesis, intraciliary transport, intraciliary transport involved in cilium assembly, intraciliary anterograde transport, dorsal/ventral pattern formation, smoothened signaling pathway, heart looping, neural tube formation, 55 56 50 21 63 38 41 33 68 ENSG00000101057 chr20 43667019 43716496 + MYBL2 protein_coding The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]. 4605 GO:0031523, GO:0005654, GO:0005654, GO:0005634, Myb complex, nucleoplasm, nucleoplasm, nucleus, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990830, GO:0090307, GO:0051726, GO:0045944, GO:0045944, GO:0043525, GO:0006357, GO:0006355, GO:0000278, cellular response to leukemia inhibitory factor, mitotic spindle assembly, regulation of cell cycle, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of neuron apoptotic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, mitotic cell cycle, 2 1 0 4 7 6 6 0 3 ENSG00000101074 chr20 44336986 44351235 + R3HDML protein_coding 140902 GO:0005615, extracellular space, GO:0030414, peptidase inhibitor activity, GO:0010466, negative regulation of peptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000101076 chr20 44355700 44434596 + HNF4A protein_coding The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]. 3172 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0042803, GO:0008270, GO:0005515, GO:0005504, GO:0005102, GO:0004879, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001102, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein homodimerization activity, zinc ion binding, protein binding, fatty acid binding, signaling receptor binding, nuclear receptor activity, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0070365, GO:0070328, GO:0060395, GO:0055091, GO:0055088, GO:0050796, GO:0048856, GO:0048511, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0042752, GO:0042632, GO:0042593, GO:0030522, GO:0030308, GO:0030154, GO:0023019, GO:0019216, GO:0010470, GO:0009749, GO:0008285, GO:0007596, GO:0007548, GO:0006805, GO:0006629, GO:0006591, GO:0006367, GO:0006357, GO:0006357, GO:0006357, GO:0003323, hepatocyte differentiation, triglyceride homeostasis, SMAD protein signal transduction, phospholipid homeostasis, lipid homeostasis, regulation of insulin secretion, anatomical structure development, rhythmic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of circadian rhythm, cholesterol homeostasis, glucose homeostasis, intracellular receptor signaling pathway, negative regulation of cell growth, cell differentiation, signal transduction involved in regulation of gene expression, regulation of lipid metabolic process, regulation of gastrulation, response to glucose, negative regulation of cell population proliferation, blood coagulation, sex differentiation, xenobiotic metabolic process, lipid metabolic process, ornithine metabolic process, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, type B pancreatic cell development, 0 0 0 1 0 0 0 0 0 ENSG00000101079 chr20 36651766 36746078 - NDRG3 protein_coding 57446 GO:0070062, GO:0005737, GO:0005737, extracellular exosome, cytoplasm, cytoplasm, GO:0003674, molecular_function, GO:0030308, GO:0030154, GO:0007283, GO:0007165, negative regulation of cell growth, cell differentiation, spermatogenesis, signal transduction, 318 350 393 177 305 252 221 240 214 ENSG00000101082 chr20 36612318 36646216 - SLA2 protein_coding This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 84174 GO:0043231, GO:0010008, GO:0005942, GO:0005886, GO:0005794, GO:0005770, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, endosome membrane, phosphatidylinositol 3-kinase complex, plasma membrane, Golgi apparatus, late endosome, cytoplasm, nucleoplasm, GO:0047485, GO:0046935, GO:0035591, GO:0005515, protein N-terminus binding, 1-phosphatidylinositol-3-kinase regulator activity, signaling adaptor activity, protein binding, GO:0050860, GO:0050851, GO:0050849, GO:0050776, GO:0046854, GO:0043551, GO:0042110, GO:0019724, GO:0000122, negative regulation of T cell receptor signaling pathway, antigen receptor-mediated signaling pathway, negative regulation of calcium-mediated signaling, regulation of immune response, phosphatidylinositol phosphorylation, regulation of phosphatidylinositol 3-kinase activity, T cell activation, B cell mediated immunity, negative regulation of transcription by RNA polymerase II, 266 179 396 154 139 266 151 138 250 ENSG00000101084 chr20 36605734 36612557 + RAB5IF protein_coding 55969 GO:0016021, GO:0005746, integral component of membrane, mitochondrial respirasome, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097250, mitochondrial respirasome assembly, 485 306 431 126 131 168 164 178 187 ENSG00000101096 chr20 51386957 51562831 - NFATC2 protein_coding This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]. 4773 GO:1990904, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, ribonucleoprotein complex, cytosol, cytosol, cytoplasm, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0019902, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, phosphatase binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1905064, GO:1901741, GO:0050853, GO:0045893, GO:0045589, GO:0042493, GO:0038095, GO:0033173, GO:0030890, GO:0016477, GO:0014904, GO:0006974, GO:0006357, GO:0006355, GO:0001816, GO:0000122, negative regulation of vascular associated smooth muscle cell differentiation, positive regulation of myoblast fusion, B cell receptor signaling pathway, positive regulation of transcription, DNA-templated, regulation of regulatory T cell differentiation, response to drug, Fc-epsilon receptor signaling pathway, calcineurin-NFAT signaling cascade, positive regulation of B cell proliferation, cell migration, myotube cell development, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, cytokine production, negative regulation of transcription by RNA polymerase II, 99 86 205 179 118 228 236 85 272 ENSG00000101098 chr20 44751808 44810338 - RIMS4 protein_coding 140730 GO:0097060, GO:0048786, synaptic membrane, presynaptic active zone, GO:0044325, GO:0031267, GO:0005515, ion channel binding, small GTPase binding, protein binding, GO:2000300, GO:0042391, GO:0006887, GO:0006836, regulation of synaptic vesicle exocytosis, regulation of membrane potential, exocytosis, neurotransmitter transport, 0 0 0 0 0 0 0 0 0 ENSG00000101104 chr20 44910062 44959035 + PABPC1L protein_coding This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019]. 80336 GO:1990904, GO:0070062, GO:0010494, GO:0005829, GO:0005634, ribonucleoprotein complex, extracellular exosome, cytoplasmic stress granule, cytosol, nucleus, GO:0008266, GO:0008143, GO:0003730, GO:0003723, poly(U) RNA binding, poly(A) binding, mRNA 3'-UTR binding, RNA binding, GO:0051647, GO:0048096, GO:0006378, GO:0006338, GO:0001556, nucleus localization, chromatin-mediated maintenance of transcription, mRNA polyadenylation, chromatin remodeling, oocyte maturation, 349 456 421 498 635 477 615 434 422 ENSG00000101109 chr20 44966474 45079959 + STK4 protein_coding The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008]. 6789 GO:0032991, GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, protein-containing complex, nuclear body, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0043539, GO:0042803, GO:0042802, GO:0008134, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein serine/threonine kinase activator activity, protein homodimerization activity, identical protein binding, transcription factor binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:1905461, GO:1904237, GO:1902043, GO:0097284, GO:0090090, GO:0071902, GO:0060800, GO:0060706, GO:0060215, GO:0050821, GO:0046777, GO:0046621, GO:0045600, GO:0043065, GO:0035556, GO:0035329, GO:0035329, GO:0033138, GO:0032147, GO:0032092, GO:0031098, GO:0030216, GO:0023014, GO:0018105, GO:0008285, GO:0007417, GO:0007165, GO:0006915, GO:0006468, GO:0003157, GO:0001934, GO:0001841, GO:0001569, GO:0000902, positive regulation of vascular associated smooth muscle cell apoptotic process, positive regulation of substrate-dependent cell migration, cell attachment to substrate, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, hepatocyte apoptotic process, negative regulation of canonical Wnt signaling pathway, positive regulation of protein serine/threonine kinase activity, regulation of cell differentiation involved in embryonic placenta development, cell differentiation involved in embryonic placenta development, primitive hemopoiesis, protein stabilization, protein autophosphorylation, negative regulation of organ growth, positive regulation of fat cell differentiation, positive regulation of apoptotic process, intracellular signal transduction, hippo signaling, hippo signaling, positive regulation of peptidyl-serine phosphorylation, activation of protein kinase activity, positive regulation of protein binding, stress-activated protein kinase signaling cascade, keratinocyte differentiation, signal transduction by protein phosphorylation, peptidyl-serine phosphorylation, negative regulation of cell population proliferation, central nervous system development, signal transduction, apoptotic process, protein phosphorylation, endocardium development, positive regulation of protein phosphorylation, neural tube formation, branching involved in blood vessel morphogenesis, cell morphogenesis, 7731 8608 10741 4113 6337 5804 5070 4911 4709 ENSG00000101115 chr20 51782331 51802520 - SALL4 protein_coding This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 57167 GO:0043231, GO:0032991, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000792, intracellular membrane-bounded organelle, protein-containing complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, heterochromatin, GO:0046872, GO:0008134, GO:0005515, GO:0000981, GO:0000978, metal ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0035019, GO:0030326, GO:0006357, GO:0003281, GO:0001843, GO:0001833, GO:0000122, positive regulation of transcription by RNA polymerase II, somatic stem cell population maintenance, embryonic limb morphogenesis, regulation of transcription by RNA polymerase II, ventricular septum development, neural tube closure, inner cell mass cell proliferation, negative regulation of transcription by RNA polymerase II, 0 0 0 2 0 0 0 0 0 ENSG00000101126 chr20 50888916 50931421 - ADNP protein_coding Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]. 23394 GO:0090575, GO:0043025, GO:0030425, GO:0030424, GO:0005737, GO:0005634, GO:0005615, GO:0000785, RNA polymerase II transcription regulator complex, neuronal cell body, dendrite, axon, cytoplasm, nucleus, extracellular space, chromatin, GO:0048487, GO:0042277, GO:0005515, GO:0005507, GO:0003677, GO:0000981, beta-tubulin binding, peptide binding, protein binding, copper ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0051965, GO:0050805, GO:0050731, GO:0045773, GO:0044849, GO:0043524, GO:0033484, GO:0032147, GO:0032091, GO:0031668, GO:0019934, GO:0010835, GO:0010629, GO:0010468, GO:0010035, GO:0009743, GO:0007614, GO:0006357, positive regulation of synapse assembly, negative regulation of synaptic transmission, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of axon extension, estrous cycle, negative regulation of neuron apoptotic process, nitric oxide homeostasis, activation of protein kinase activity, negative regulation of protein binding, cellular response to extracellular stimulus, cGMP-mediated signaling, regulation of protein ADP-ribosylation, negative regulation of gene expression, regulation of gene expression, response to inorganic substance, response to carbohydrate, short-term memory, regulation of transcription by RNA polymerase II, 1282 1342 1594 1332 1263 1352 1119 689 809 ENSG00000101132 chr20 54207847 54228052 + PFDN4 protein_coding This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]. 5203 GO:0016272, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005634, prefoldin complex, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleus, GO:0051087, GO:0051082, GO:0005515, chaperone binding, unfolded protein binding, protein binding, GO:0006457, protein folding, 9 2 16 20 9 34 16 10 20 ENSG00000101134 chr20 54475597 54651171 + DOK5 protein_coding The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 55816 GO:0005829, cytosol, GO:0051386, GO:0043410, GO:0007411, GO:0007169, regulation of neurotrophin TRK receptor signaling pathway, positive regulation of MAPK cascade, axon guidance, transmembrane receptor protein tyrosine kinase signaling pathway, 0 0 0 0 0 0 0 1 0 ENSG00000101138 chr20 56392371 56406369 + CSTF1 protein_coding This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]. 1477 GO:0005848, GO:0005654, GO:0005654, mRNA cleavage stimulating factor complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0031124, GO:0006369, GO:0000398, mRNA 3'-end processing, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 287 245 268 193 178 259 241 157 159 ENSG00000101144 chr20 57168748 57266629 - BMP7 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016]. 655 GO:0062023, GO:0031982, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, vesicle, extracellular space, extracellular space, extracellular region, GO:0070700, GO:0008201, GO:0008083, GO:0005515, GO:0005125, BMP receptor binding, heparin binding, growth factor activity, protein binding, cytokine activity, GO:2000121, GO:1905312, GO:1905069, GO:1901223, GO:1900106, GO:1900006, GO:0090336, GO:0072136, GO:0072134, GO:0072133, GO:0072125, GO:0072040, GO:0071773, GO:0071456, GO:0070487, GO:0061384, GO:0060710, GO:0060687, GO:0060686, GO:0060548, GO:0060485, GO:0060445, GO:0060411, GO:0060395, GO:0060395, GO:0060393, GO:0060272, GO:0060037, GO:0051216, GO:0048812, GO:0048762, GO:0048754, GO:0048738, GO:0048596, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045839, GO:0045786, GO:0045746, GO:0045669, GO:0045665, GO:0043434, GO:0043407, GO:0043401, GO:0043065, GO:0042475, GO:0042326, GO:0034504, GO:0034116, GO:0033280, GO:0032355, GO:0032088, GO:0030902, GO:0030855, GO:0030509, GO:0030509, GO:0030509, GO:0030501, GO:0030326, GO:0021502, GO:0016358, GO:0010862, GO:0010862, GO:0010862, GO:0010800, GO:0010718, GO:0010664, GO:0010628, GO:0009880, GO:0007411, GO:0003344, GO:0003272, GO:0001837, GO:0001823, GO:0001707, GO:0001657, GO:0001656, GO:0001503, GO:0001501, regulation of removal of superoxide radicals, positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis, allantois development, negative regulation of NIK/NF-kappaB signaling, positive regulation of hyaluranon cable assembly, positive regulation of dendrite development, positive regulation of brown fat cell differentiation, metanephric mesenchymal cell proliferation involved in metanephros development, nephrogenic mesenchyme morphogenesis, metanephric mesenchyme morphogenesis, negative regulation of glomerular mesangial cell proliferation, negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis, cellular response to BMP stimulus, cellular response to hypoxia, monocyte aggregation, heart trabecula morphogenesis, chorio-allantoic fusion, regulation of branching involved in prostate gland morphogenesis, negative regulation of prostatic bud formation, negative regulation of cell death, mesenchyme development, branching involved in salivary gland morphogenesis, cardiac septum morphogenesis, SMAD protein signal transduction, SMAD protein signal transduction, regulation of pathway-restricted SMAD protein phosphorylation, embryonic skeletal joint morphogenesis, pharyngeal system development, cartilage development, neuron projection morphogenesis, mesenchymal cell differentiation, branching morphogenesis of an epithelial tube, cardiac muscle tissue development, embryonic camera-type eye morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of mitotic nuclear division, negative regulation of cell cycle, negative regulation of Notch signaling pathway, positive regulation of osteoblast differentiation, negative regulation of neuron differentiation, response to peptide hormone, negative regulation of MAP kinase activity, steroid hormone mediated signaling pathway, positive regulation of apoptotic process, odontogenesis of dentin-containing tooth, negative regulation of phosphorylation, protein localization to nucleus, positive regulation of heterotypic cell-cell adhesion, response to vitamin D, response to estradiol, negative regulation of NF-kappaB transcription factor activity, hindbrain development, epithelial cell differentiation, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, embryonic limb morphogenesis, neural fold elevation formation, dendrite development, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of peptidyl-threonine phosphorylation, positive regulation of epithelial to mesenchymal transition, negative regulation of striated muscle cell apoptotic process, positive regulation of gene expression, embryonic pattern specification, axon guidance, pericardium morphogenesis, endocardial cushion formation, epithelial to mesenchymal transition, mesonephros development, mesoderm formation, ureteric bud development, metanephros development, ossification, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000101146 chr20 57351010 57379211 + RAE1 protein_coding Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 8480 GO:0097431, GO:0043657, GO:0005737, GO:0005643, GO:0005643, GO:0005635, GO:0005635, GO:0005634, mitotic spindle pole, host cell, cytoplasm, nuclear pore, nuclear pore, nuclear envelope, nuclear envelope, nucleus, GO:0043130, GO:0008017, GO:0005515, GO:0003723, GO:0003723, ubiquitin binding, microtubule binding, protein binding, RNA binding, RNA binding, GO:1900034, GO:0075733, GO:0071407, GO:0060964, GO:0060236, GO:0051301, GO:0019083, GO:0016925, GO:0016032, GO:0007049, GO:0006409, GO:0006406, GO:0006405, GO:0006110, GO:0000972, regulation of cellular response to heat, intracellular transport of virus, cellular response to organic cyclic compound, regulation of gene silencing by miRNA, regulation of mitotic spindle organization, cell division, viral transcription, protein sumoylation, viral process, cell cycle, tRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, regulation of glycolytic process, transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery, 151 152 231 114 223 190 117 160 156 ENSG00000101150 chr20 63865228 63891545 + TPD52L2 protein_coding This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]. 7165 GO:0005515, GO:0003723, protein binding, RNA binding, GO:0005975, carbohydrate metabolic process, 5126 6648 7353 4747 5999 5479 6263 5338 4705 ENSG00000101152 chr20 63895182 63936031 + DNAJC5 protein_coding This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]. 80331 GO:0098993, GO:0061202, GO:0042584, GO:0042470, GO:0035579, GO:0035577, GO:0031594, GO:0031225, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005765, GO:0005739, anchored component of synaptic vesicle membrane, clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, chromaffin granule membrane, melanosome, specific granule membrane, azurophil granule membrane, neuromuscular junction, anchored component of membrane, membrane, plasma membrane, plasma membrane, cytosol, lysosomal membrane, mitochondrion, GO:0043008, GO:0005515, ATP-dependent protein binding, protein binding, GO:0098693, GO:0061077, GO:0045055, GO:0043524, GO:0043312, GO:0016079, GO:0007269, GO:0006887, regulation of synaptic vesicle cycle, chaperone-mediated protein folding, regulated exocytosis, negative regulation of neuron apoptotic process, neutrophil degranulation, synaptic vesicle exocytosis, neurotransmitter secretion, exocytosis, 2341 2103 3414 920 1485 1371 1190 1073 1184 ENSG00000101158 chr20 58981208 58995133 + NELFCD protein_coding The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008]. 51497 GO:0032021, GO:0032021, GO:0016020, GO:0005654, NELF complex, NELF complex, membrane, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0050434, GO:0034244, GO:0006368, GO:0006366, positive regulation of viral transcription, negative regulation of transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 165 145 219 190 195 267 216 150 182 ENSG00000101160 chr20 58995185 59007247 - CTSZ protein_coding The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]. 1522 GO:1904813, GO:0099738, GO:0070062, GO:0062023, GO:0043231, GO:0035580, GO:0033116, GO:0031410, GO:0030426, GO:0030134, GO:0009986, GO:0005886, GO:0005788, GO:0005783, GO:0005764, GO:0005764, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0000139, ficolin-1-rich granule lumen, cell cortex region, extracellular exosome, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, specific granule lumen, endoplasmic reticulum-Golgi intermediate compartment membrane, cytoplasmic vesicle, growth cone, COPII-coated ER to Golgi transport vesicle, cell surface, plasma membrane, endoplasmic reticulum lumen, endoplasmic reticulum, lysosome, lysosome, extracellular space, extracellular space, extracellular space, extracellular region, Golgi membrane, GO:0008234, GO:0005515, GO:0004197, GO:0004180, cysteine-type peptidase activity, protein binding, cysteine-type endopeptidase activity, carboxypeptidase activity, GO:2000179, GO:1901214, GO:0060441, GO:0051603, GO:0048208, GO:0043525, GO:0043312, GO:0032091, GO:0010977, GO:0010757, GO:0006888, GO:0006508, GO:0002003, positive regulation of neural precursor cell proliferation, regulation of neuron death, epithelial tube branching involved in lung morphogenesis, proteolysis involved in cellular protein catabolic process, COPII vesicle coating, positive regulation of neuron apoptotic process, neutrophil degranulation, negative regulation of protein binding, negative regulation of neuron projection development, negative regulation of plasminogen activation, endoplasmic reticulum to Golgi vesicle-mediated transport, proteolysis, angiotensin maturation, 1900 1855 2732 598 1335 940 766 1288 997 ENSG00000101161 chr20 63981135 64033100 + PRPF6 protein_coding The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]. 24148 GO:0071013, GO:0071013, GO:0071005, GO:0046540, GO:0046540, GO:0016607, GO:0016020, GO:0005682, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, nuclear speck, membrane, U5 snRNP, spliceosomal complex, nucleoplasm, nucleus, GO:0050681, GO:0043021, GO:0005515, GO:0003723, GO:0003723, GO:0003713, androgen receptor binding, ribonucleoprotein complex binding, protein binding, RNA binding, RNA binding, transcription coactivator activity, GO:0045944, GO:0008380, GO:0006403, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000375, GO:0000245, GO:0000244, GO:0000244, GO:0000244, positive regulation of transcription by RNA polymerase II, RNA splicing, RNA localization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, spliceosomal complex assembly, spliceosomal tri-snRNP complex assembly, spliceosomal tri-snRNP complex assembly, spliceosomal tri-snRNP complex assembly, 537 649 675 343 526 480 425 448 353 ENSG00000101162 chr20 59019254 59026654 + TUBB1 protein_coding This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]. 81027 GO:0070062, GO:0005874, GO:0005737, GO:0005737, extracellular exosome, microtubule, cytoplasm, cytoplasm, GO:0005525, GO:0005200, GO:0003924, GTP binding, structural constituent of cytoskeleton, GTPase activity, GO:0051225, GO:0000278, GO:0000226, spindle assembly, mitotic cell cycle, microtubule cytoskeleton organization, 33 39 30 19 19 35 12 10 28 ENSG00000101166 chr20 59033145 59042909 - PRELID3B protein_coding 51012 GO:0005758, mitochondrial intermembrane space, GO:1990050, phosphatidic acid transfer activity, GO:0120009, GO:0015914, intermembrane lipid transfer, phospholipid transport, 265 156 384 134 153 189 147 126 125 ENSG00000101180 chr20 62214970 62220267 - HRH3 protein_coding Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008]. 11255 GO:0098793, GO:0045202, GO:0030425, GO:0005887, GO:0005886, presynapse, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0016907, GO:0004993, GO:0004969, neurotransmitter receptor activity, G protein-coupled acetylcholine receptor activity, G protein-coupled serotonin receptor activity, histamine receptor activity, GO:0098664, GO:0050890, GO:0014063, GO:0014061, GO:0014050, GO:0007269, GO:0007268, GO:0007197, GO:0007187, GO:0007186, G protein-coupled serotonin receptor signaling pathway, cognition, negative regulation of serotonin secretion, regulation of norepinephrine secretion, negative regulation of glutamate secretion, neurotransmitter secretion, chemical synaptic transmission, adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 2 0 2 0 6 1 1 5 0 ENSG00000101181 chr20 62183029 62203568 + MTG2 protein_coding Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]. 26164 GO:0005761, GO:0005759, GO:0005743, mitochondrial ribosome, mitochondrial matrix, mitochondrial inner membrane, GO:0005525, GO:0003924, GO:0000287, GTP binding, GTPase activity, magnesium ion binding, GO:0070129, GO:0044065, GO:0042254, regulation of mitochondrial translation, regulation of respiratory system process, ribosome biogenesis, 524 440 625 144 293 223 185 257 231 ENSG00000101182 chr20 62136735 62143440 - PSMA7 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012]. 5688 GO:0098794, GO:0070062, GO:0019773, GO:0019773, GO:0019773, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000502, postsynapse, extracellular exosome, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0042802, GO:0005515, GO:0004175, identical protein binding, protein binding, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 965 656 869 1429 1071 1267 1361 1060 911 ENSG00000101187 chr20 62642445 62685785 + SLCO4A1 protein_coding 28231 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0015349, GO:0015347, GO:0005515, thyroid hormone transmembrane transporter activity, sodium-independent organic anion transmembrane transporter activity, protein binding, GO:0070327, GO:0055085, GO:0043252, GO:0043252, thyroid hormone transport, transmembrane transport, sodium-independent organic anion transport, sodium-independent organic anion transport, 10 6 25 22 21 12 23 13 15 ENSG00000101188 chr20 62708837 62762771 + NTSR1 protein_coding Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]. 4923 GO:0045121, GO:0043204, GO:0043198, GO:0043197, GO:0043195, GO:0032280, GO:0009986, GO:0009898, GO:0005887, GO:0005886, GO:0005794, GO:0005783, GO:0005739, membrane raft, perikaryon, dendritic shaft, dendritic spine, terminal bouton, symmetric synapse, cell surface, cytoplasmic side of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, mitochondrion, GO:0047485, GO:0044877, GO:0042802, GO:0016492, GO:0016492, GO:0005515, GO:0004930, protein N-terminus binding, protein-containing complex binding, identical protein binding, G protein-coupled neurotensin receptor activity, G protein-coupled neurotensin receptor activity, protein binding, G protein-coupled receptor activity, GO:2001259, GO:0098900, GO:0098712, GO:0097151, GO:0090238, GO:0071545, GO:0070779, GO:0060732, GO:0051930, GO:0051281, GO:0051280, GO:0050965, GO:0043576, GO:0043066, GO:0043065, GO:0033993, GO:0014054, GO:0014049, GO:0008344, GO:0007612, GO:0007268, GO:0007218, GO:0007186, GO:0003254, GO:0003085, GO:0001659, positive regulation of cation channel activity, regulation of action potential, L-glutamate import across plasma membrane, positive regulation of inhibitory postsynaptic potential, positive regulation of arachidonic acid secretion, inositol phosphate catabolic process, D-aspartate import across plasma membrane, positive regulation of inositol phosphate biosynthetic process, regulation of sensory perception of pain, positive regulation of release of sequestered calcium ion into cytosol, negative regulation of release of sequestered calcium ion into cytosol, detection of temperature stimulus involved in sensory perception of pain, regulation of respiratory gaseous exchange, negative regulation of apoptotic process, positive regulation of apoptotic process, response to lipid, positive regulation of gamma-aminobutyric acid secretion, positive regulation of glutamate secretion, adult locomotory behavior, learning, chemical synaptic transmission, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, regulation of membrane depolarization, negative regulation of systemic arterial blood pressure, temperature homeostasis, 7 8 22 0 5 24 8 3 11 ENSG00000101189 chr20 62796453 62801738 + MRGBP protein_coding 55257 GO:0035267, GO:0005654, GO:0005654, NuA4 histone acetyltransferase complex, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0040008, GO:0016573, GO:0006357, regulation of growth, histone acetylation, regulation of transcription by RNA polymerase II, 102 132 109 109 132 223 101 114 182 ENSG00000101190 chr20 62841115 62861763 - TCFL5 protein_coding 10732 GO:0005634, GO:0005634, GO:0001673, GO:0000785, nucleus, nucleus, male germ cell nucleus, chromatin, GO:1990837, GO:0046983, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045595, GO:0042127, GO:0030154, GO:0007283, GO:0007275, GO:0006366, GO:0006355, GO:0006355, GO:0000122, regulation of cell differentiation, regulation of cell population proliferation, cell differentiation, spermatogenesis, multicellular organism development, transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 45 65 95 40 51 38 35 39 49 ENSG00000101191 chr20 62877738 62937952 - DIDO1 protein_coding Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008]. 11083 GO:0005819, GO:0005737, GO:0005634, spindle, cytoplasm, nucleus, GO:0046872, GO:0003723, metal ion binding, RNA binding, GO:0097190, GO:0006351, apoptotic signaling pathway, transcription, DNA-templated, 728 758 967 714 852 874 708 587 615 ENSG00000101193 chr20 62938119 62948475 + GID8 protein_coding 54994 GO:0030054, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000151, cell junction, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0090263, GO:0090263, GO:0043161, GO:0016055, GO:0008284, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, proteasome-mediated ubiquitin-dependent protein catabolic process, Wnt signaling pathway, positive regulation of cell population proliferation, 364 325 402 188 305 247 183 268 189 ENSG00000101194 chr20 62952647 62969585 + SLC17A9 protein_coding This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 63910 GO:0016021, integral component of membrane, GO:0015217, GO:0005515, GO:0005347, GO:0005347, GO:0001409, ADP transmembrane transporter activity, protein binding, ATP transmembrane transporter activity, ATP transmembrane transporter activity, guanine nucleotide transmembrane transporter activity, GO:1903790, GO:0015867, GO:0015867, GO:0015866, GO:0006887, guanine nucleotide transmembrane transport, ATP transport, ATP transport, ADP transport, exocytosis, 4 11 9 14 13 7 12 14 4 ENSG00000101197 chr20 63235883 63240507 + BIRC7 protein_coding This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]. 79444 GO:0005829, GO:0005813, GO:0005794, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, centrosome, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0061630, GO:0046872, GO:0043027, GO:0019899, GO:0005515, GO:0004869, GO:0004842, ubiquitin protein ligase activity, metal ion binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, enzyme binding, protein binding, cysteine-type endopeptidase inhibitor activity, ubiquitin-protein transferase activity, GO:1990001, GO:0070247, GO:0043154, GO:0043066, GO:0043066, GO:0042127, GO:0031398, GO:0016567, GO:0007257, GO:0006915, GO:0002088, inhibition of cysteine-type endopeptidase activity involved in apoptotic process, regulation of natural killer cell apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, regulation of cell population proliferation, positive regulation of protein ubiquitination, protein ubiquitination, activation of JUN kinase activity, apoptotic process, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000101198 chr20 63240784 63272694 - NKAIN4 protein_coding NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]. 128414 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0002028, regulation of sodium ion transport, 0 1 1 0 0 0 0 0 0 ENSG00000101199 chr20 63272785 63289793 + ARFGAP1 protein_coding The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 55738 GO:0045202, GO:0014069, GO:0005829, GO:0000139, synapse, postsynaptic density, cytosol, Golgi membrane, GO:0046872, GO:0005515, GO:0005096, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0043547, GO:0036498, GO:0032012, GO:0030100, GO:0015031, GO:0006890, GO:0006888, positive regulation of GTPase activity, IRE1-mediated unfolded protein response, regulation of ARF protein signal transduction, regulation of endocytosis, protein transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, 481 566 673 579 743 780 592 622 621 ENSG00000101200 chr20 3082556 3084724 - AVP protein_coding This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015]. 551 GO:0030665, GO:0030425, GO:0030141, GO:0005829, GO:0005615, GO:0005576, clathrin-coated vesicle membrane, dendrite, secretory granule, cytosol, extracellular space, extracellular region, GO:0043027, GO:0031895, GO:0031894, GO:0031894, GO:0005515, GO:0005185, GO:0005184, GO:0005184, GO:0005102, GO:0004672, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, V1B vasopressin receptor binding, V1A vasopressin receptor binding, V1A vasopressin receptor binding, protein binding, neurohypophyseal hormone activity, neuropeptide hormone activity, neuropeptide hormone activity, signaling receptor binding, protein kinase activity, GO:0090201, GO:0070528, GO:0070371, GO:0061024, GO:0051970, GO:0045907, GO:0045471, GO:0043154, GO:0043084, GO:0043066, GO:0042711, GO:0042538, GO:0042310, GO:0035813, GO:0035176, GO:0035094, GO:0033574, GO:0033138, GO:0032849, GO:0031394, GO:0030307, GO:0014049, GO:0010628, GO:0008284, GO:0007626, GO:0007625, GO:0007621, GO:0007267, GO:0007204, GO:0007186, GO:0007165, GO:0006915, GO:0006833, GO:0006091, GO:0003091, GO:0003084, GO:0002125, negative regulation of release of cytochrome c from mitochondria, protein kinase C signaling, ERK1 and ERK2 cascade, membrane organization, negative regulation of transmission of nerve impulse, positive regulation of vasoconstriction, response to ethanol, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, penile erection, negative regulation of apoptotic process, maternal behavior, hyperosmotic salinity response, vasoconstriction, regulation of renal sodium excretion, social behavior, response to nicotine, response to testosterone, positive regulation of peptidyl-serine phosphorylation, positive regulation of cellular pH reduction, positive regulation of prostaglandin biosynthetic process, positive regulation of cell growth, positive regulation of glutamate secretion, positive regulation of gene expression, positive regulation of cell population proliferation, locomotory behavior, grooming behavior, negative regulation of female receptivity, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, signal transduction, apoptotic process, water transport, generation of precursor metabolites and energy, renal water homeostasis, positive regulation of systemic arterial blood pressure, maternal aggressive behavior, 0 0 0 0 0 0 0 0 5 ENSG00000101203 chr20 63293186 63334851 + COL20A1 protein_coding 57642 GO:0062023, GO:0062023, GO:0005788, GO:0005615, GO:0005581, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen trimer, extracellular region, 0 1 0 6 5 4 0 0 7 ENSG00000101204 chr20 63343223 63378401 - CHRNA4 protein_coding This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 1137 GO:0099056, GO:0098691, GO:0045211, GO:0045202, GO:0043025, GO:0043005, GO:0030425, GO:0016021, GO:0016020, GO:0009897, GO:0005892, GO:0005887, GO:0005886, GO:0005886, integral component of presynaptic membrane, dopaminergic synapse, postsynaptic membrane, synapse, neuronal cell body, neuron projection, dendrite, integral component of membrane, membrane, external side of plasma membrane, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042166, GO:0030594, GO:0022848, GO:0022848, GO:0015464, GO:0015276, GO:0005515, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, ligand-gated ion channel activity, protein binding, GO:0095500, GO:0060080, GO:0060079, GO:0051899, GO:0050890, GO:0050877, GO:0050877, GO:0042391, GO:0042391, GO:0042113, GO:0035640, GO:0035095, GO:0035094, GO:0035094, GO:0034220, GO:0019233, GO:0014059, GO:0007626, GO:0007585, GO:0007271, GO:0007271, GO:0007268, GO:0007268, GO:0007165, GO:0007165, GO:0006979, GO:0006816, GO:0006811, GO:0006281, GO:0001666, GO:0001508, acetylcholine receptor signaling pathway, inhibitory postsynaptic potential, excitatory postsynaptic potential, membrane depolarization, cognition, nervous system process, nervous system process, regulation of membrane potential, regulation of membrane potential, B cell activation, exploration behavior, behavioral response to nicotine, response to nicotine, response to nicotine, ion transmembrane transport, sensory perception of pain, regulation of dopamine secretion, locomotory behavior, respiratory gaseous exchange by respiratory system, synaptic transmission, cholinergic, synaptic transmission, cholinergic, chemical synaptic transmission, chemical synaptic transmission, signal transduction, signal transduction, response to oxidative stress, calcium ion transport, ion transport, DNA repair, response to hypoxia, action potential, 0 0 0 0 0 0 0 0 0 ENSG00000101210 chr20 63488012 63499322 - EEF1A2 protein_coding This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]. 1917 GO:0098574, GO:0045202, GO:0043025, GO:0005853, GO:0005737, GO:0005634, cytoplasmic side of lysosomal membrane, synapse, neuronal cell body, eukaryotic translation elongation factor 1 complex, cytoplasm, nucleus, GO:0019901, GO:0008135, GO:0005525, GO:0005515, GO:0003924, GO:0003746, protein kinase binding, translation factor activity, RNA binding, GTP binding, protein binding, GTPase activity, translation elongation factor activity, GO:1904714, GO:0090218, GO:0051602, GO:0043065, GO:0010035, GO:0006414, GO:0006412, regulation of chaperone-mediated autophagy, positive regulation of lipid kinase activity, response to electrical stimulus, positive regulation of apoptotic process, response to inorganic substance, translational elongation, translation, 0 0 2 0 0 0 2 0 5 ENSG00000101213 chr20 63528001 63537370 - PTK6 protein_coding The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 5753 GO:0031234, GO:0016604, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001726, extrinsic component of cytoplasmic side of plasma membrane, nuclear body, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, ruffle, GO:0042802, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004715, GO:0004713, GO:0004713, identical protein binding, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0071300, GO:0061099, GO:0060575, GO:0046777, GO:0045926, GO:0045787, GO:0045742, GO:0045087, GO:0042531, GO:0042127, GO:0038128, GO:0038083, GO:0030154, GO:0016477, GO:0010976, GO:0009968, GO:0007260, GO:0007169, GO:0006468, cellular response to retinoic acid, negative regulation of protein tyrosine kinase activity, intestinal epithelial cell differentiation, protein autophosphorylation, negative regulation of growth, positive regulation of cell cycle, positive regulation of epidermal growth factor receptor signaling pathway, innate immune response, positive regulation of tyrosine phosphorylation of STAT protein, regulation of cell population proliferation, ERBB2 signaling pathway, peptidyl-tyrosine autophosphorylation, cell differentiation, cell migration, positive regulation of neuron projection development, negative regulation of signal transduction, tyrosine phosphorylation of STAT protein, transmembrane receptor protein tyrosine kinase signaling pathway, protein phosphorylation, 0 1 0 6 2 3 5 1 0 ENSG00000101216 chr20 63587602 63627041 - GMEB2 protein_coding This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]. 26205 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0046872, GO:0042802, GO:0005515, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, identical protein binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006366, GO:0006357, positive regulation of transcription by RNA polymerase II, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 1014 807 1288 423 435 408 515 374 322 ENSG00000101220 chr20 3753508 3768387 - C20orf27 protein_coding 54976 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 13 9 8 17 19 38 29 5 16 ENSG00000101222 chr20 3777504 3781448 - SPEF1 protein_coding 25876 GO:1990716, GO:0097729, GO:0097542, GO:0030175, GO:0030027, GO:0016324, GO:0016324, GO:0016323, GO:0005930, GO:0005930, GO:0005902, GO:0005874, GO:0005737, axonemal central apparatus, 9+2 motile cilium, ciliary tip, filopodium, lamellipodium, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, axoneme, axoneme, microvillus, microtubule, cytoplasm, GO:0008017, GO:0008017, GO:0005515, GO:0003779, GO:0003674, microtubule binding, microtubule binding, protein binding, actin binding, molecular_function, GO:2000095, GO:1904158, GO:0060548, GO:0051493, GO:0046847, GO:0030032, GO:0016477, GO:0007026, GO:0003341, GO:0001578, regulation of Wnt signaling pathway, planar cell polarity pathway, axonemal central apparatus assembly, negative regulation of cell death, regulation of cytoskeleton organization, filopodium assembly, lamellipodium assembly, cell migration, negative regulation of microtubule depolymerization, cilium movement, microtubule bundle formation, 0 1 0 0 1 0 1 0 0 ENSG00000101224 chr20 3786772 3806121 + CDC25B protein_coding CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]. 994 GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0000922, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, spindle pole, GO:0019901, GO:0005515, GO:0004725, GO:0004725, GO:0004721, protein kinase binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0110032, GO:0051301, GO:0045931, GO:0045860, GO:0035335, GO:0032467, GO:0010971, GO:0008284, GO:0007144, GO:0006468, GO:0001556, GO:0000278, GO:0000086, GO:0000086, positive regulation of G2/MI transition of meiotic cell cycle, cell division, positive regulation of mitotic cell cycle, positive regulation of protein kinase activity, peptidyl-tyrosine dephosphorylation, positive regulation of cytokinesis, positive regulation of G2/M transition of mitotic cell cycle, positive regulation of cell population proliferation, female meiosis I, protein phosphorylation, oocyte maturation, mitotic cell cycle, G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 107 85 211 410 131 399 406 153 387 ENSG00000101230 chr20 13221771 13300651 + ISM1 protein_coding 140862 GO:0005576, extracellular region, GO:0016525, negative regulation of angiogenesis, 5 2 1 14 4 9 15 2 3 ENSG00000101236 chr20 3927309 4015582 - RNF24 protein_coding This gene encodes an integral membrane protein that contains a RING-type zinc finger. The encoded protein may interact with multiple transient receptor potential cation channel subfamily C (TRPC) proteins and regulate the trafficking and insertion of these proteins into the plasma membrane. [provided by RefSeq, Mar 2016]. 11237 GO:0016021, GO:0012505, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, endomembrane system, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0016567, protein ubiquitination, 6845 6035 7011 4594 8339 7626 6110 5726 6189 ENSG00000101246 chr20 63698642 63708025 - ARFRP1 protein_coding The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]. 10139 GO:0032588, GO:0016020, GO:0005829, GO:0005802, GO:0005794, GO:0005794, trans-Golgi network membrane, membrane, cytosol, trans-Golgi network, Golgi apparatus, Golgi apparatus, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0043001, GO:0043001, GO:0042147, GO:0034067, GO:0033365, GO:0007369, GO:0007165, GO:0006886, Golgi to plasma membrane protein transport, Golgi to plasma membrane protein transport, retrograde transport, endosome to Golgi, protein localization to Golgi apparatus, protein localization to organelle, gastrulation, signal transduction, intracellular protein transport, 159 145 152 94 141 114 157 89 135 ENSG00000101247 chr20 13784950 13821582 + NDUFAF5 protein_coding The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 79133 GO:0031314, GO:0005743, GO:0005739, GO:0005739, extrinsic component of mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0016491, GO:0008168, GO:0005515, GO:0003674, oxidoreductase activity, methyltransferase activity, protein binding, molecular_function, GO:0055114, GO:0032981, GO:0032981, GO:0032981, GO:0032259, GO:0030961, oxidation-reduction process, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, methylation, peptidyl-arginine hydroxylation, 10 21 17 22 30 22 20 11 12 ENSG00000101251 chr20 13849247 13996443 - SEL1L2 protein_coding 80343 GO:0016021, GO:0000839, integral component of membrane, Hrd1p ubiquitin ligase ERAD-L complex, GO:0004842, ubiquitin-protein transferase activity, GO:0030433, GO:0016567, ubiquitin-dependent ERAD pathway, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000101255 chr20 362835 397559 + TRIB3 protein_coding The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. Differential promoter usage and alternate splicing result in multiple transcript variants. [provided by RefSeq, Jul 2014]. 57761 GO:0005886, GO:0005829, GO:0005654, GO:0005634, GO:0005634, plasma membrane, cytosol, nucleoplasm, nucleus, nucleus, GO:0055106, GO:0031625, GO:0031434, GO:0019901, GO:0019901, GO:0016301, GO:0005524, GO:0005515, GO:0004860, GO:0003714, ubiquitin-protein transferase regulator activity, ubiquitin protein ligase binding, mitogen-activated protein kinase kinase binding, protein kinase binding, protein kinase binding, kinase activity, ATP binding, protein binding, protein kinase inhibitor activity, transcription corepressor activity, GO:0070059, GO:0070059, GO:0051898, GO:0051443, GO:0045892, GO:0045717, GO:0045599, GO:0043405, GO:0043405, GO:0034976, GO:0032869, GO:0032436, GO:0032092, GO:0019216, GO:0010827, GO:0010506, GO:0006469, GO:0006468, GO:0000122, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, negative regulation of protein kinase B signaling, positive regulation of ubiquitin-protein transferase activity, negative regulation of transcription, DNA-templated, negative regulation of fatty acid biosynthetic process, negative regulation of fat cell differentiation, regulation of MAP kinase activity, regulation of MAP kinase activity, response to endoplasmic reticulum stress, cellular response to insulin stimulus, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, regulation of lipid metabolic process, regulation of glucose transmembrane transport, regulation of autophagy, negative regulation of protein kinase activity, protein phosphorylation, negative regulation of transcription by RNA polymerase II, 311 1373 554 40 274 63 40 287 36 ENSG00000101265 chr20 4780023 4823645 - RASSF2 protein_coding This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008]. 9770 GO:0032991, GO:0005886, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000777, GO:0000776, protein-containing complex, plasma membrane, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, condensed chromosome kinetochore, kinetochore, GO:0005515, GO:0004672, protein binding, protein kinase activity, GO:1901223, GO:1901222, GO:0050821, GO:0048872, GO:0046849, GO:0046330, GO:0046330, GO:0045860, GO:0045860, GO:0045670, GO:0045667, GO:0043065, GO:0038168, GO:0033137, GO:0031954, GO:0007165, GO:0007049, GO:0006468, GO:0001503, GO:0001501, negative regulation of NIK/NF-kappaB signaling, regulation of NIK/NF-kappaB signaling, protein stabilization, homeostasis of number of cells, bone remodeling, positive regulation of JNK cascade, positive regulation of JNK cascade, positive regulation of protein kinase activity, positive regulation of protein kinase activity, regulation of osteoclast differentiation, regulation of osteoblast differentiation, positive regulation of apoptotic process, epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade, negative regulation of peptidyl-serine phosphorylation, positive regulation of protein autophosphorylation, signal transduction, cell cycle, protein phosphorylation, ossification, skeletal system development, 13205 11719 18665 5423 9870 8622 6523 7566 7619 ENSG00000101266 chr20 472498 543835 - CSNK2A1 protein_coding Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]. 1457 GO:0031519, GO:0016581, GO:0016580, GO:0005956, GO:0005956, GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, PcG protein complex, NuRD complex, Sin3 complex, protein kinase CK2 complex, protein kinase CK2 complex, plasma membrane, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0106311, GO:0106310, GO:0051879, GO:0047485, GO:0042802, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, Hsp90 protein binding, protein N-terminus binding, identical protein binding, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2001234, GO:2000059, GO:1905818, GO:1901796, GO:0061077, GO:0051726, GO:0048511, GO:0045732, GO:0043154, GO:0030307, GO:0030177, GO:0018107, GO:0018107, GO:0018105, GO:0018105, GO:0016236, GO:0016055, GO:0008284, GO:0007165, GO:0007049, GO:0006915, GO:0006656, GO:0006468, GO:0006457, negative regulation of apoptotic signaling pathway, negative regulation of ubiquitin-dependent protein catabolic process, regulation of chromosome separation, regulation of signal transduction by p53 class mediator, chaperone-mediated protein folding, regulation of cell cycle, rhythmic process, positive regulation of protein catabolic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of cell growth, positive regulation of Wnt signaling pathway, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, macroautophagy, Wnt signaling pathway, positive regulation of cell population proliferation, signal transduction, cell cycle, apoptotic process, phosphatidylcholine biosynthetic process, protein phosphorylation, protein folding, 203 225 173 205 245 241 204 182 132 ENSG00000101276 chr20 760080 776015 - SLC52A3 protein_coding This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]. 113278 GO:0031965, GO:0016324, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005737, nuclear membrane, apical plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0032217, GO:0032217, GO:0005515, riboflavin transmembrane transporter activity, riboflavin transmembrane transporter activity, protein binding, GO:0034605, GO:0032218, GO:0032218, GO:0007605, GO:0006771, cellular response to heat, riboflavin transport, riboflavin transport, sensory perception of sound, riboflavin metabolic process, 0 4 0 0 0 4 0 0 1 ENSG00000101278 chr20 839447 839977 - RPS10P5 processed_pseudogene 14 16 43 21 20 10 14 12 14 ENSG00000101280 chr20 869899 916317 - ANGPT4 protein_coding Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008]. 51378 GO:0062023, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, extracellular space, extracellular space, extracellular region, GO:0030971, GO:0030971, GO:0030297, GO:0005102, receptor tyrosine kinase binding, receptor tyrosine kinase binding, transmembrane receptor protein tyrosine kinase activator activity, signaling receptor binding, GO:0071456, GO:0050900, GO:0050731, GO:0045766, GO:0043537, GO:0043536, GO:0043066, GO:0016525, GO:0010595, GO:0007219, GO:0007171, GO:0007165, GO:0001935, GO:0001525, cellular response to hypoxia, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of angiogenesis, negative regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, negative regulation of apoptotic process, negative regulation of angiogenesis, positive regulation of endothelial cell migration, Notch signaling pathway, activation of transmembrane receptor protein tyrosine kinase activity, signal transduction, endothelial cell proliferation, angiogenesis, 7 11 17 22 8 13 13 7 24 ENSG00000101282 chr20 958452 1002264 - RSPO4 protein_coding This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]. 343637 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0008201, GO:0005515, heparin binding, protein binding, GO:0035878, GO:0030177, GO:0030177, GO:0016055, nail development, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, Wnt signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000101290 chr20 5126786 5197887 + CDS2 protein_coding Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]. 8760 GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005743, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial inner membrane, GO:0005515, GO:0004605, GO:0004605, GO:0004605, protein binding, phosphatidate cytidylyltransferase activity, phosphatidate cytidylyltransferase activity, phosphatidate cytidylyltransferase activity, GO:0140042, GO:0016024, GO:0016024, GO:0006655, lipid droplet formation, CDP-diacylglycerol biosynthetic process, CDP-diacylglycerol biosynthetic process, phosphatidylglycerol biosynthetic process, 1889 1892 2133 1129 1714 1616 1295 1366 1219 ENSG00000101292 chr20 5302040 5314369 - PROKR2 protein_coding Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008]. 128674 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004983, GO:0004930, protein binding, neuropeptide Y receptor activity, G protein-coupled receptor activity, GO:0007623, GO:0007218, GO:0007186, GO:0007186, circadian rhythm, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 10 0 0 0 5 0 0 0 ENSG00000101294 chr20 31514410 31577923 + HM13 protein_coding The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 81502 GO:0071556, GO:0071556, GO:0071458, GO:0071458, GO:0036513, GO:0016020, GO:0009986, GO:0005886, GO:0005791, GO:0005789, GO:0005783, GO:0005783, integral component of lumenal side of endoplasmic reticulum membrane, integral component of lumenal side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, Derlin-1 retrotranslocation complex, membrane, cell surface, plasma membrane, rough endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0042803, GO:0042500, GO:0042500, GO:0042500, GO:0031625, GO:0008233, GO:0005515, protein homodimerization activity, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, ubiquitin protein ligase binding, peptidase activity, protein binding, GO:1904211, GO:0033619, GO:0033619, GO:0031293, GO:0006509, GO:0006465, membrane protein proteolysis involved in retrograde protein transport, ER to cytosol, membrane protein proteolysis, membrane protein proteolysis, membrane protein intracellular domain proteolysis, membrane protein ectodomain proteolysis, signal peptide processing, 1018 1252 1117 598 1240 759 705 996 697 ENSG00000101298 chr20 1266280 1309328 + SNPH protein_coding Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 9751 GO:0043025, GO:0043005, GO:0042734, GO:0031966, GO:0016021, GO:0005881, GO:0005881, GO:0005739, GO:0005737, neuronal cell body, neuron projection, presynaptic membrane, mitochondrial membrane, integral component of membrane, cytoplasmic microtubule, cytoplasmic microtubule, mitochondrion, cytoplasm, GO:0017075, GO:0008017, GO:0005515, syntaxin-1 binding, microtubule binding, protein binding, GO:0030182, GO:0016081, GO:0007420, GO:0007269, neuron differentiation, synaptic vesicle docking, brain development, neurotransmitter secretion, 10 4 25 19 12 35 12 4 19 ENSG00000101306 chr20 31819308 31834689 + MYLK2 protein_coding This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]. 85366 GO:0045202, GO:0030017, GO:0005737, GO:0005737, GO:0005634, synapse, sarcomere, cytoplasm, cytoplasm, nucleus, GO:0032027, GO:0005524, GO:0005516, GO:0005516, GO:0005515, GO:0004687, GO:0004687, GO:0004687, GO:0004683, myosin light chain binding, ATP binding, calmodulin binding, calmodulin binding, protein binding, myosin light chain kinase activity, myosin light chain kinase activity, myosin light chain kinase activity, calmodulin-dependent protein kinase activity, GO:0060048, GO:0055008, GO:0055008, GO:0046777, GO:0035914, GO:0032971, GO:0018107, GO:0014816, GO:0010628, GO:0007274, GO:0006941, GO:0006941, cardiac muscle contraction, cardiac muscle tissue morphogenesis, cardiac muscle tissue morphogenesis, protein autophosphorylation, skeletal muscle cell differentiation, regulation of muscle filament sliding, peptidyl-threonine phosphorylation, skeletal muscle satellite cell differentiation, positive regulation of gene expression, neuromuscular synaptic transmission, striated muscle contraction, striated muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000101307 chr20 1563521 1620061 - SIRPB1 protein_coding The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]. 10326 GO:0030667, GO:0009986, GO:0005887, GO:0005886, GO:0005886, secretory granule membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0050870, GO:0050766, GO:0045087, GO:0043312, GO:0007166, GO:0007165, positive regulation of T cell activation, positive regulation of phagocytosis, innate immune response, neutrophil degranulation, cell surface receptor signaling pathway, signal transduction, 2557 4587 3420 667 2731 1287 1100 2325 1257 ENSG00000101310 chr20 18507482 18561415 + SEC23B protein_coding The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]. 10483 GO:0070971, GO:0048471, GO:0030127, GO:0012505, GO:0005829, GO:0005789, GO:0005783, GO:0000139, endoplasmic reticulum exit site, perinuclear region of cytoplasm, COPII vesicle coat, endomembrane system, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0008270, GO:0005515, GO:0005096, zinc ion binding, protein binding, GTPase activator activity, GO:0090110, GO:0043547, GO:0006886, COPII-coated vesicle cargo loading, positive regulation of GTPase activity, intracellular protein transport, 508 499 828 285 277 384 320 261 391 ENSG00000101311 chr20 6074845 6123544 - FERMT1 protein_coding This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]. 55612 GO:0071944, GO:0032587, GO:0030055, GO:0030054, GO:0005925, GO:0005925, GO:0005856, GO:0005829, GO:0005737, cell periphery, ruffle membrane, cell-substrate junction, cell junction, focal adhesion, focal adhesion, cytoskeleton, cytosol, cytoplasm, GO:0051015, GO:0005178, actin filament binding, integrin binding, GO:2000647, GO:1903691, GO:0090162, GO:0090090, GO:0071711, GO:0051886, GO:0051546, GO:0043616, GO:0042308, GO:0033630, GO:0033625, GO:0030511, GO:0010629, GO:0007229, GO:0007160, GO:0007155, GO:0007155, GO:0001954, negative regulation of stem cell proliferation, positive regulation of wound healing, spreading of epidermal cells, establishment of epithelial cell polarity, negative regulation of canonical Wnt signaling pathway, basement membrane organization, negative regulation of timing of anagen, keratinocyte migration, keratinocyte proliferation, negative regulation of protein import into nucleus, positive regulation of cell adhesion mediated by integrin, positive regulation of integrin activation, positive regulation of transforming growth factor beta receptor signaling pathway, negative regulation of gene expression, integrin-mediated signaling pathway, cell-matrix adhesion, cell adhesion, cell adhesion, positive regulation of cell-matrix adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000101323 chr20 7882981 7940474 - HAO1 protein_coding This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]. 54363 GO:0005829, GO:0005782, GO:0005777, GO:0005777, cytosol, peroxisomal matrix, peroxisome, peroxisome, GO:0052854, GO:0052853, GO:0052852, GO:0010181, GO:0008891, GO:0008891, GO:0003973, medium-chain-(S)-2-hydroxy-acid oxidase activity, long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity, very-long-chain-(S)-2-hydroxy-acid oxidase activity, FMN binding, glycolate oxidase activity, glycolate oxidase activity, (S)-2-hydroxy-acid oxidase activity, GO:0046296, GO:0046296, GO:0034641, GO:0006979, GO:0006625, GO:0001561, GO:0001561, glycolate catabolic process, glycolate catabolic process, cellular nitrogen compound metabolic process, response to oxidative stress, protein targeting to peroxisome, fatty acid alpha-oxidation, fatty acid alpha-oxidation, 0 0 0 4 0 0 0 0 0 ENSG00000101327 chr20 1978757 1994285 - PDYN protein_coding The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]. 5173 GO:0043679, GO:0043025, GO:0030425, GO:0005886, GO:0005886, GO:0005576, axon terminus, neuronal cell body, dendrite, plasma membrane, plasma membrane, extracellular region, GO:0031628, GO:0001515, opioid receptor binding, opioid peptide activity, GO:0007600, GO:0007268, GO:0007218, GO:0007186, sensory perception, chemical synaptic transmission, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 1 0 2 0 0 0 0 0 0 ENSG00000101331 chr20 32010450 32032180 + CCM2L protein_coding 140706 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0090271, GO:0055017, GO:0042060, GO:0034111, GO:0032091, GO:0008150, GO:0003222, GO:0003209, positive regulation of fibroblast growth factor production, cardiac muscle tissue growth, wound healing, negative regulation of homotypic cell-cell adhesion, negative regulation of protein binding, biological_process, ventricular trabecula myocardium morphogenesis, cardiac atrium morphogenesis, 10 6 35 2 3 6 5 0 7 ENSG00000101333 chr20 9068763 9481242 + PLCB4 protein_coding The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]. 5332 GO:0030425, GO:0014069, GO:0005829, GO:0005790, GO:0005634, dendrite, postsynaptic density, cytosol, smooth endoplasmic reticulum, nucleus, GO:0005515, GO:0005509, GO:0004629, GO:0004435, protein binding, calcium ion binding, phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:0048015, GO:0043647, GO:0016042, GO:0007186, phosphatidylinositol-mediated signaling, inositol phosphate metabolic process, lipid catabolic process, G protein-coupled receptor signaling pathway, 0 1 0 0 2 0 0 0 0 ENSG00000101335 chr20 36541484 36551447 + MYL9 protein_coding Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10398 GO:0030018, GO:0005859, GO:0005829, GO:0001725, Z disc, muscle myosin complex, cytosol, stress fiber, GO:0032036, GO:0008307, GO:0005509, myosin heavy chain binding, structural constituent of muscle, calcium ion binding, GO:0070527, GO:0045652, GO:0006937, GO:0006936, platelet aggregation, regulation of megakaryocyte differentiation, regulation of muscle contraction, muscle contraction, 5 1 9 1 6 8 0 7 0 ENSG00000101336 chr20 32052188 32101856 + HCK protein_coding The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010]. 3055 GO:0042995, GO:0031234, GO:0031234, GO:0030133, GO:0005925, GO:0005901, GO:0005886, GO:0005884, GO:0005829, GO:0005794, GO:0005764, GO:0005654, cell projection, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, transport vesicle, focal adhesion, caveola, plasma membrane, actin filament, cytosol, Golgi apparatus, lysosome, nucleoplasm, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004713, GO:0001784, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, phosphotyrosine residue binding, GO:2000251, GO:2000251, GO:0071801, GO:0060333, GO:0051090, GO:0050764, GO:0050727, GO:0050690, GO:0046777, GO:0045728, GO:0045087, GO:0043299, GO:0043066, GO:0042127, GO:0038096, GO:0038083, GO:0031663, GO:0030838, GO:0030154, GO:0019221, GO:0018108, GO:0008360, GO:0008284, GO:0007498, GO:0007229, GO:0007169, GO:0007155, GO:0006954, GO:0006468, GO:0002758, GO:0002522, positive regulation of actin cytoskeleton reorganization, positive regulation of actin cytoskeleton reorganization, regulation of podosome assembly, interferon-gamma-mediated signaling pathway, regulation of DNA-binding transcription factor activity, regulation of phagocytosis, regulation of inflammatory response, regulation of defense response to virus by virus, protein autophosphorylation, respiratory burst after phagocytosis, innate immune response, leukocyte degranulation, negative regulation of apoptotic process, regulation of cell population proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, peptidyl-tyrosine autophosphorylation, lipopolysaccharide-mediated signaling pathway, positive regulation of actin filament polymerization, cell differentiation, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, regulation of cell shape, positive regulation of cell population proliferation, mesoderm development, integrin-mediated signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, inflammatory response, protein phosphorylation, innate immune response-activating signal transduction, leukocyte migration involved in immune response, 8185 6165 10522 3943 5666 5701 4767 4723 5206 ENSG00000101337 chr20 32109506 32167258 + TM9SF4 protein_coding 9777 GO:0016021, GO:0016020, GO:0005794, GO:0005769, integral component of membrane, membrane, Golgi apparatus, early endosome, GO:0005515, protein binding, GO:2000010, GO:0072657, GO:0070863, GO:0070072, GO:0051453, GO:0007155, GO:0006909, GO:0001666, positive regulation of protein localization to cell surface, protein localization to membrane, positive regulation of protein exit from endoplasmic reticulum, vacuolar proton-transporting V-type ATPase complex assembly, regulation of intracellular pH, cell adhesion, phagocytosis, response to hypoxia, 728 621 1087 553 555 573 588 452 537 ENSG00000101342 chr20 36876121 36894235 + TLDC2 protein_coding 140711 GO:0005730, GO:0005634, nucleolus, nucleus, GO:1903204, GO:0006979, negative regulation of oxidative stress-induced neuron death, response to oxidative stress, 111 108 212 254 124 297 197 96 221 ENSG00000101343 chr20 20034368 20056046 - CRNKL1 protein_coding The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]. 51340 GO:0071014, GO:0071013, GO:0071007, GO:0071007, GO:0016607, GO:0005681, GO:0005654, GO:0005634, GO:0000974, post-mRNA release spliceosomal complex, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear speck, spliceosomal complex, nucleoplasm, nucleus, Prp19 complex, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000245, GO:0000245, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal complex assembly, spliceosomal complex assembly, 453 486 623 326 488 509 312 400 433 ENSG00000101346 chr20 32207880 32238667 + POFUT1 protein_coding This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 23509 GO:0016020, GO:0016020, GO:0005783, membrane, membrane, endoplasmic reticulum, GO:0046922, GO:0046922, GO:0008417, peptide-O-fucosyltransferase activity, peptide-O-fucosyltransferase activity, fucosyltransferase activity, GO:0036066, GO:0016266, GO:0008593, GO:0007507, GO:0007399, GO:0007219, GO:0006493, GO:0006355, GO:0006004, GO:0001756, GO:0001525, protein O-linked fucosylation, O-glycan processing, regulation of Notch signaling pathway, heart development, nervous system development, Notch signaling pathway, protein O-linked glycosylation, regulation of transcription, DNA-templated, fucose metabolic process, somitogenesis, angiogenesis, 61 35 161 39 43 38 38 41 38 ENSG00000101347 chr20 36889773 36951901 - SAMHD1 protein_coding This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]. 25939 GO:0097197, GO:0035861, GO:0005886, GO:0005654, GO:0005654, GO:0005634, GO:0005634, tetraspanin-enriched microdomain, site of double-strand break, plasma membrane, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0032567, GO:0016793, GO:0008832, GO:0008832, GO:0008270, GO:0005525, GO:0005515, GO:0004540, GO:0004540, GO:0003723, GO:0003697, GO:0003676, identical protein binding, dGTP binding, triphosphoric monoester hydrolase activity, dGTPase activity, dGTPase activity, zinc ion binding, GTP binding, protein binding, ribonuclease activity, ribonuclease activity, RNA binding, single-stranded DNA binding, nucleic acid binding, GO:0110025, GO:0090501, GO:0060339, GO:0060337, GO:0051607, GO:0051607, GO:0051607, GO:0051289, GO:0046061, GO:0045088, GO:0045088, GO:0045088, GO:0016446, GO:0016032, GO:0009264, GO:0009264, GO:0006974, GO:0006955, GO:0006203, GO:0006203, GO:0000724, DNA strand resection involved in replication fork processing, RNA phosphodiester bond hydrolysis, negative regulation of type I interferon-mediated signaling pathway, type I interferon signaling pathway, defense response to virus, defense response to virus, defense response to virus, protein homotetramerization, dATP catabolic process, regulation of innate immune response, regulation of innate immune response, regulation of innate immune response, somatic hypermutation of immunoglobulin genes, viral process, deoxyribonucleotide catabolic process, deoxyribonucleotide catabolic process, cellular response to DNA damage stimulus, immune response, dGTP catabolic process, dGTP catabolic process, double-strand break repair via homologous recombination, 927 640 1442 1272 808 1407 1039 549 1192 ENSG00000101349 chr20 9537389 9839041 - PAK5 protein_coding The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]. 57144 GO:0045202, GO:0005739, GO:0005737, GO:0005654, synapse, mitochondrion, cytoplasm, nucleoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, GO:2001237, GO:0032147, GO:0031098, GO:0023014, GO:0016477, GO:0008283, GO:0007626, GO:0007613, GO:0007612, GO:0007165, GO:0007010, GO:0006915, GO:0001558, negative regulation of extrinsic apoptotic signaling pathway, activation of protein kinase activity, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, cell migration, cell population proliferation, locomotory behavior, memory, learning, signal transduction, cytoskeleton organization, apoptotic process, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000101350 chr20 32277664 32335011 + KIF3B protein_coding The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]. 9371 GO:1904115, GO:0097542, GO:0070062, GO:0030496, GO:0016939, GO:0016020, GO:0015630, GO:0005929, GO:0005929, GO:0005876, GO:0005874, GO:0005873, GO:0005871, GO:0005829, GO:0005813, axon cytoplasm, ciliary tip, extracellular exosome, midbody, kinesin II complex, membrane, microtubule cytoskeleton, cilium, cilium, spindle microtubule, microtubule, plus-end kinesin complex, kinesin complex, cytosol, centrosome, GO:0120170, GO:0031267, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0005515, GO:0003777, intraciliary transport particle B binding, small GTPase binding, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0090307, GO:0072383, GO:0035735, GO:0032467, GO:0019886, GO:0008089, GO:0007368, GO:0007100, GO:0007052, GO:0007018, GO:0007018, GO:0006890, mitotic spindle assembly, plus-end-directed vesicle transport along microtubule, intraciliary transport involved in cilium assembly, positive regulation of cytokinesis, antigen processing and presentation of exogenous peptide antigen via MHC class II, anterograde axonal transport, determination of left/right symmetry, mitotic centrosome separation, mitotic spindle organization, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 278 208 453 166 154 235 185 148 211 ENSG00000101353 chr20 37101226 37179588 - MROH8 protein_coding The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 140699 19 22 22 3 4 29 10 8 14 ENSG00000101361 chr20 2652145 2658393 + NOP56 protein_coding Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]. 10528 GO:0070761, GO:0032040, GO:0031428, GO:0031428, GO:0016020, GO:0005737, GO:0005732, GO:0005730, GO:0005654, GO:0001650, pre-snoRNP complex, small-subunit processome, box C/D snoRNP complex, box C/D snoRNP complex, membrane, cytoplasm, small nucleolar ribonucleoprotein complex, nucleolus, nucleoplasm, fibrillar center, GO:1990226, GO:0045296, GO:0030515, GO:0030515, GO:0005515, GO:0003723, histone methyltransferase binding, cadherin binding, snoRNA binding, snoRNA binding, protein binding, RNA binding, GO:0006364, rRNA processing, 102 92 157 390 293 370 223 147 173 ENSG00000101363 chr20 37289638 37317260 + MANBAL protein_coding 63905 GO:0016021, integral component of membrane, GO:0005515, protein binding, 118 84 147 51 88 55 78 76 61 ENSG00000101365 chr20 2658395 2664219 - IDH3B protein_coding Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]. 3420 GO:0005759, GO:0005739, GO:0005739, GO:0005634, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0051287, GO:0009055, GO:0004449, GO:0000287, NAD binding, electron transfer activity, isocitrate dehydrogenase (NAD+) activity, magnesium ion binding, GO:0022900, GO:0006102, GO:0006099, GO:0006099, electron transport chain, isocitrate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, 203 243 255 218 191 226 240 189 145 ENSG00000101367 chr20 32819893 32850405 + MAPRE1 protein_coding The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008]. 22919 GO:1905721, GO:0051233, GO:0036064, GO:0035371, GO:0031253, GO:0030981, GO:0005925, GO:0005881, GO:0005874, GO:0005829, GO:0005819, GO:0005815, GO:0005813, GO:0005794, mitotic spindle astral microtubule end, spindle midzone, ciliary basal body, microtubule plus-end, cell projection membrane, cortical microtubule cytoskeleton, focal adhesion, cytoplasmic microtubule, microtubule, cytosol, spindle, microtubule organizing center, centrosome, Golgi apparatus, GO:0051010, GO:0051010, GO:0045296, GO:0042802, GO:0019901, GO:0008022, GO:0005515, GO:0003723, microtubule plus-end binding, microtubule plus-end binding, cadherin binding, identical protein binding, protein kinase binding, protein C-terminus binding, protein binding, RNA binding, GO:1905515, GO:1904825, GO:1903033, GO:0097711, GO:0071539, GO:0051301, GO:0051225, GO:0046785, GO:0035372, GO:0031116, GO:0031115, GO:0031110, GO:0030335, GO:0016477, GO:0010389, GO:0008104, GO:0001578, GO:0000086, non-motile cilium assembly, protein localization to microtubule plus-end, positive regulation of microtubule plus-end binding, ciliary basal body-plasma membrane docking, protein localization to centrosome, cell division, spindle assembly, microtubule polymerization, protein localization to microtubule, positive regulation of microtubule polymerization, negative regulation of microtubule polymerization, regulation of microtubule polymerization or depolymerization, positive regulation of cell migration, cell migration, regulation of G2/M transition of mitotic cell cycle, protein localization, microtubule bundle formation, G2/M transition of mitotic cell cycle, 3237 2213 3654 2563 2759 2690 2244 1946 1975 ENSG00000101384 chr20 10637684 10673999 - JAG1 protein_coding The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]. 182 GO:0016324, GO:0016020, GO:0016020, GO:0005912, GO:0005887, GO:0005886, GO:0005886, GO:0005576, apical plasma membrane, membrane, membrane, adherens junction, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0008083, GO:0005543, GO:0005515, GO:0005509, GO:0005198, GO:0005112, GO:0005112, GO:0005112, growth factor activity, phospholipid binding, protein binding, calcium ion binding, structural molecule activity, Notch binding, Notch binding, Notch binding, GO:2000737, GO:0097150, GO:0072070, GO:0072017, GO:0072015, GO:0072006, GO:0062043, GO:0061444, GO:0061314, GO:0061314, GO:0061309, GO:0061156, GO:0061073, GO:0060411, GO:0045944, GO:0045747, GO:0045669, GO:0045665, GO:0045639, GO:0045602, GO:0045599, GO:0045446, GO:0045445, GO:0042491, GO:0042127, GO:0035909, GO:0032495, GO:0030336, GO:0030216, GO:0030097, GO:0022408, GO:0007399, GO:0007219, GO:0007219, GO:0007219, GO:0003215, GO:0003184, GO:0003180, GO:0002456, GO:0002011, GO:0001974, GO:0001953, GO:0001709, GO:0001525, negative regulation of stem cell differentiation, neuronal stem cell population maintenance, loop of Henle development, distal tubule development, glomerular visceral epithelial cell development, nephron development, positive regulation of cardiac epithelial to mesenchymal transition, endocardial cushion cell development, Notch signaling involved in heart development, Notch signaling involved in heart development, cardiac neural crest cell development involved in outflow tract morphogenesis, pulmonary artery morphogenesis, ciliary body morphogenesis, cardiac septum morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of Notch signaling pathway, positive regulation of osteoblast differentiation, negative regulation of neuron differentiation, positive regulation of myeloid cell differentiation, negative regulation of endothelial cell differentiation, negative regulation of fat cell differentiation, endothelial cell differentiation, myoblast differentiation, inner ear auditory receptor cell differentiation, regulation of cell population proliferation, aorta morphogenesis, response to muramyl dipeptide, negative regulation of cell migration, keratinocyte differentiation, hemopoiesis, negative regulation of cell-cell adhesion, nervous system development, Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, cardiac right ventricle morphogenesis, pulmonary valve morphogenesis, aortic valve morphogenesis, T cell mediated immunity, morphogenesis of an epithelial sheet, blood vessel remodeling, negative regulation of cell-matrix adhesion, cell fate determination, angiogenesis, 93 169 213 82 133 239 81 99 173 ENSG00000101391 chr20 33358839 33401561 - CDK5RAP1 protein_coding This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]. 51654 GO:0005829, GO:0005739, GO:0005575, cytosol, mitochondrion, cellular_component, GO:0051539, GO:0046872, GO:0044877, GO:0035597, GO:0019901, 4 iron, 4 sulfur cluster binding, metal ion binding, protein-containing complex binding, N6-isopentenyladenosine methylthiotransferase activity, protein kinase binding, GO:0070900, GO:0070131, GO:0045903, GO:0045736, GO:0045736, GO:0045736, GO:0045664, GO:0035600, GO:0007420, mitochondrial tRNA modification, positive regulation of mitochondrial translation, positive regulation of translational fidelity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, regulation of neuron differentiation, tRNA methylthiolation, brain development, 35 18 39 53 34 119 60 28 58 ENSG00000101400 chr20 33407955 33443892 - SNTA1 protein_coding Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]. 6640 GO:0045202, GO:0042383, GO:0032991, GO:0031594, GO:0016328, GO:0016013, GO:0016010, GO:0005856, GO:0005737, GO:0005622, synapse, sarcolemma, protein-containing complex, neuromuscular junction, lateral plasma membrane, syntrophin complex, dystrophin-associated glycoprotein complex, cytoskeleton, cytoplasm, intracellular anatomical structure, GO:0051117, GO:0050998, GO:0044325, GO:0030165, GO:0017080, GO:0005516, GO:0005515, GO:0005198, GO:0003779, ATPase binding, nitric-oxide synthase binding, ion channel binding, PDZ domain binding, sodium channel regulator activity, calmodulin binding, protein binding, structural molecule activity, actin binding, GO:1902305, GO:1902083, GO:0086005, GO:0060307, GO:0006936, GO:0002027, regulation of sodium ion transmembrane transport, negative regulation of peptidyl-cysteine S-nitrosylation, ventricular cardiac muscle cell action potential, regulation of ventricular cardiac muscle cell membrane repolarization, muscle contraction, regulation of heart rate, 2 2 5 18 5 23 17 3 10 ENSG00000101405 chr20 3071620 3072517 + OXT protein_coding This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013]. 5020 GO:0043195, GO:0030141, GO:0005615, GO:0005576, terminal bouton, secretory granule, extracellular space, extracellular region, GO:0031855, GO:0005515, GO:0005185, GO:0005184, oxytocin receptor binding, protein binding, neurohypophyseal hormone activity, neuropeptide hormone activity, GO:0120162, GO:0070474, GO:0060455, GO:0060450, GO:0060406, GO:0060179, GO:0051965, GO:0051930, GO:0051602, GO:0051591, GO:0051384, GO:0050806, GO:0045925, GO:0045778, GO:0045777, GO:0045776, GO:0045472, GO:0043434, GO:0042756, GO:0042755, GO:0042713, GO:0042711, GO:0042538, GO:0042220, GO:0035815, GO:0035811, GO:0035176, GO:0034695, GO:0032570, GO:0032526, GO:0032355, GO:0032308, GO:0032094, GO:0030431, GO:0014823, GO:0010701, GO:0009744, GO:0007625, GO:0007613, GO:0007565, GO:0007507, GO:0007204, GO:0007186, GO:0007165, GO:0002125, GO:0002027, GO:0001975, positive regulation of cold-induced thermogenesis, positive regulation of uterine smooth muscle contraction, negative regulation of gastric acid secretion, positive regulation of hindgut contraction, positive regulation of penile erection, male mating behavior, positive regulation of synapse assembly, regulation of sensory perception of pain, response to electrical stimulus, response to cAMP, response to glucocorticoid, positive regulation of synaptic transmission, positive regulation of female receptivity, positive regulation of ossification, positive regulation of blood pressure, negative regulation of blood pressure, response to ether, response to peptide hormone, drinking behavior, eating behavior, sperm ejaculation, maternal behavior, hyperosmotic salinity response, response to cocaine, positive regulation of renal sodium excretion, negative regulation of urine volume, social behavior, response to prostaglandin E, response to progesterone, response to retinoic acid, response to estradiol, positive regulation of prostaglandin secretion, response to food, sleep, response to activity, positive regulation of norepinephrine secretion, response to sucrose, grooming behavior, memory, female pregnancy, heart development, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, signal transduction, maternal aggressive behavior, regulation of heart rate, response to amphetamine, 0 0 4 0 0 0 1 0 0 ENSG00000101407 chr20 37983007 38033468 - TTI1 protein_coding 9675 GO:0070209, GO:0031932, GO:0031932, GO:0031931, GO:0031931, GO:0005737, GO:0005737, ASTRA complex, TORC2 complex, TORC2 complex, TORC1 complex, TORC1 complex, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0032006, GO:0032006, regulation of TOR signaling, regulation of TOR signaling, 104 97 110 89 78 125 75 100 74 ENSG00000101412 chr20 33675683 33686404 - E2F1 protein_coding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]. 1869 GO:0090575, GO:0035189, GO:0035189, GO:0032991, GO:0005813, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, Rb-E2F complex, Rb-E2F complex, protein-containing complex, centrosome, mitochondrion, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0046983, GO:0043565, GO:0043565, GO:0019901, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0003677, GO:0001216, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, sequence-specific DNA binding, sequence-specific DNA binding, protein kinase binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription activator activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000045, GO:1990090, GO:1990086, GO:1900740, GO:0072332, GO:0071930, GO:0071466, GO:0071456, GO:0071398, GO:0070345, GO:0070317, GO:0060252, GO:0048255, GO:0048146, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045599, GO:0043392, GO:0043276, GO:0043065, GO:0030900, GO:0016032, GO:0010628, GO:0008630, GO:0007283, GO:0006977, GO:0006357, GO:0006355, GO:0006351, GO:0000122, GO:0000083, GO:0000082, GO:0000077, regulation of G1/S transition of mitotic cell cycle, cellular response to nerve growth factor stimulus, lens fiber cell apoptotic process, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of transcription involved in G1/S transition of mitotic cell cycle, cellular response to xenobiotic stimulus, cellular response to hypoxia, cellular response to fatty acid, negative regulation of fat cell proliferation, negative regulation of G0 to G1 transition, positive regulation of glial cell proliferation, mRNA stabilization, positive regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of fat cell differentiation, negative regulation of DNA binding, anoikis, positive regulation of apoptotic process, forebrain development, viral process, positive regulation of gene expression, intrinsic apoptotic signaling pathway in response to DNA damage, spermatogenesis, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, DNA damage checkpoint, 4 0 6 3 8 9 2 0 4 ENSG00000101413 chr20 38033546 38127780 + RPRD1B protein_coding 58490 GO:0016591, GO:0016591, GO:0005654, GO:0005654, GO:0005634, RNA polymerase II, holoenzyme, RNA polymerase II, holoenzyme, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0005515, GO:0000993, GO:0000993, identical protein binding, protein binding, RNA polymerase II complex binding, RNA polymerase II complex binding, GO:0070940, GO:0045944, GO:0042795, GO:0031124, GO:0010564, GO:0008284, dephosphorylation of RNA polymerase II C-terminal domain, positive regulation of transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, mRNA 3'-end processing, regulation of cell cycle process, positive regulation of cell population proliferation, 368 385 433 289 438 359 274 254 328 ENSG00000101417 chr20 33702754 33720319 - PXMP4 protein_coding 11264 GO:0016021, GO:0005778, GO:0005778, GO:0005778, GO:0005777, integral component of membrane, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0005515, protein binding, GO:0008150, biological_process, 4 7 10 3 4 23 7 6 8 ENSG00000101421 chr20 33811304 33854366 + CHMP4B protein_coding This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]. 128866 GO:0070062, GO:0031982, GO:0031902, GO:0030496, GO:0030117, GO:0009898, GO:0009898, GO:0005829, GO:0005771, GO:0005768, GO:0005737, GO:0005635, GO:0005634, GO:0000815, GO:0000815, GO:0000815, extracellular exosome, vesicle, late endosome membrane, midbody, membrane coat, cytoplasmic side of plasma membrane, cytoplasmic side of plasma membrane, cytosol, multivesicular body, endosome, cytoplasm, nuclear envelope, nucleus, ESCRT III complex, ESCRT III complex, ESCRT III complex, GO:0045296, GO:0042803, GO:0042802, GO:0005515, cadherin binding, protein homodimerization activity, identical protein binding, protein binding, GO:1902902, GO:1902188, GO:1901673, GO:1901215, GO:0090611, GO:0090148, GO:0061952, GO:0060548, GO:0051258, GO:0050792, GO:0046755, GO:0039702, GO:0039702, GO:0039702, GO:0036438, GO:0036258, GO:0032511, GO:0031468, GO:0019058, GO:0016236, GO:0016197, GO:0010824, GO:0010458, GO:0007080, GO:0006997, GO:0006914, GO:0006914, GO:0006900, GO:0006620, GO:0000281, negative regulation of autophagosome assembly, positive regulation of viral release from host cell, regulation of mitotic spindle assembly, negative regulation of neuron death, ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway, membrane fission, midbody abscission, negative regulation of cell death, protein polymerization, regulation of viral process, viral budding, viral budding via host ESCRT complex, viral budding via host ESCRT complex, viral budding via host ESCRT complex, maintenance of lens transparency, multivesicular body assembly, late endosome to vacuole transport via multivesicular body sorting pathway, nuclear envelope reassembly, viral life cycle, macroautophagy, endosomal transport, regulation of centrosome duplication, exit from mitosis, mitotic metaphase plate congression, nucleus organization, autophagy, autophagy, vesicle budding from membrane, posttranslational protein targeting to endoplasmic reticulum membrane, mitotic cytokinesis, 2082 2049 3328 834 1345 1632 994 1158 1464 ENSG00000101425 chr20 38304123 38337505 + BPI protein_coding This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]. 671 GO:0070062, GO:0035580, GO:0035578, GO:0016020, GO:0005615, GO:0005576, extracellular exosome, specific granule lumen, azurophil granule lumen, membrane, extracellular space, extracellular region, GO:0001530, GO:0001530, lipopolysaccharide binding, lipopolysaccharide binding, GO:0050829, GO:0045087, GO:0043312, GO:0043031, GO:0043031, GO:0032720, GO:0032720, GO:0032717, GO:0032717, GO:0032715, GO:0032715, GO:0031663, GO:0019730, defense response to Gram-negative bacterium, innate immune response, neutrophil degranulation, negative regulation of macrophage activation, negative regulation of macrophage activation, negative regulation of tumor necrosis factor production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, negative regulation of interleukin-6 production, lipopolysaccharide-mediated signaling pathway, antimicrobial humoral response, 7 7 40 14 28 47 8 15 33 ENSG00000101435 chr20 23564732 23568749 - CST9L protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008]. 128821 GO:0005615, extracellular space, GO:0005515, GO:0004869, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0019730, GO:0010951, antimicrobial humoral response, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000101438 chr20 38724462 38729372 + SLC32A1 protein_coding The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]. 140679 GO:0061202, GO:0060077, GO:0051286, GO:0048786, GO:0044316, GO:0044306, GO:0044306, GO:0044292, GO:0043005, GO:0030672, GO:0030425, GO:0030285, GO:0005886, GO:0005886, clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, inhibitory synapse, cell tip, presynaptic active zone, cone cell pedicle, neuron projection terminus, neuron projection terminus, dendrite terminus, neuron projection, synaptic vesicle membrane, dendrite, integral component of synaptic vesicle membrane, plasma membrane, plasma membrane, GO:0015495, GO:0015495, GO:0015187, GO:0015171, gamma-aminobutyric acid:proton symporter activity, gamma-aminobutyric acid:proton symporter activity, glycine transmembrane transporter activity, amino acid transmembrane transporter activity, GO:0098700, GO:0021766, GO:0015816, GO:0015812, GO:0007568, GO:0007269, GO:0006811, GO:0003333, neurotransmitter loading into synaptic vesicle, hippocampus development, glycine transport, gamma-aminobutyric acid transport, aging, neurotransmitter secretion, ion transport, amino acid transmembrane transport, 2 0 1 3 2 1 1 1 0 ENSG00000101439 chr20 23626706 23638473 - CST3 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]. 1471 GO:1904813, GO:1904724, GO:0070062, GO:0005886, GO:0005794, GO:0005788, GO:0005783, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, plasma membrane, Golgi apparatus, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0042802, GO:0030414, GO:0005515, GO:0004869, GO:0004866, GO:0002020, GO:0001540, identical protein binding, peptidase inhibitor activity, protein binding, cysteine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, protease binding, amyloid-beta binding, GO:0097435, GO:0060313, GO:0060311, GO:0045861, GO:0044267, GO:0043687, GO:0043312, GO:0034103, GO:0010951, GO:0010716, GO:0010716, GO:0010711, GO:0010466, GO:0006952, supramolecular fiber organization, negative regulation of blood vessel remodeling, negative regulation of elastin catabolic process, negative regulation of proteolysis, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, regulation of tissue remodeling, negative regulation of endopeptidase activity, negative regulation of extracellular matrix disassembly, negative regulation of extracellular matrix disassembly, negative regulation of collagen catabolic process, negative regulation of peptidase activity, defense response, 372 948 729 242 865 565 258 796 459 ENSG00000101440 chr20 34194569 34269344 + ASIP protein_coding In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]. 434 GO:0005615, extracellular space, GO:0031782, GO:0031781, GO:0031779, GO:0005184, GO:0005102, type 4 melanocortin receptor binding, type 3 melanocortin receptor binding, melanocortin receptor binding, neuropeptide hormone activity, signaling receptor binding, GO:0071514, GO:0048023, GO:0042438, GO:0040030, GO:0032438, GO:0032402, GO:0009755, GO:0008343, GO:0007267, GO:0007165, GO:0006091, genetic imprinting, positive regulation of melanin biosynthetic process, melanin biosynthetic process, regulation of molecular function, epigenetic, melanosome organization, melanosome transport, hormone-mediated signaling pathway, adult feeding behavior, cell-cell signaling, signal transduction, generation of precursor metabolites and energy, 0 0 0 0 0 0 0 0 0 ENSG00000101441 chr20 23685640 23689040 - CST4 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008]. 1472 GO:0070062, GO:0005615, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, extracellular space, GO:0005515, GO:0004869, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0045861, GO:0010951, GO:0001895, GO:0001580, negative regulation of proteolysis, negative regulation of endopeptidase activity, retina homeostasis, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 1 0 0 0 0 0 ENSG00000101442 chr20 38748442 38772520 + ACTR5 protein_coding 79913 GO:0031011, GO:0031011, GO:0005737, GO:0005737, GO:0005654, GO:0005634, Ino80 complex, Ino80 complex, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0070914, GO:0043044, GO:0032508, GO:0016579, GO:0006355, GO:0006310, GO:0006302, UV-damage excision repair, ATP-dependent chromatin remodeling, DNA duplex unwinding, protein deubiquitination, regulation of transcription, DNA-templated, DNA recombination, double-strand break repair, 17 10 26 28 25 26 35 13 18 ENSG00000101443 chr20 45469706 45481532 + WFDC2 protein_coding This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]. 10406 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0019828, GO:0005515, GO:0004869, GO:0004867, GO:0004867, GO:0004866, aspartic-type endopeptidase inhibitor activity, protein binding, cysteine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0045087, GO:0019731, GO:0010951, GO:0007283, GO:0006508, innate immune response, antibacterial humoral response, negative regulation of endopeptidase activity, spermatogenesis, proteolysis, 0 0 0 0 0 0 0 3 0 ENSG00000101444 chr20 34280268 34311802 - AHCY protein_coding S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. 191 GO:0070062, GO:0043005, GO:0042470, GO:0005829, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, neuron projection, melanosome, cytosol, cytosol, cytosol, nucleus, GO:0051287, GO:0042802, GO:0030554, GO:0005515, GO:0004013, GO:0004013, NAD binding, identical protein binding, adenyl nucleotide binding, protein binding, adenosylhomocysteinase activity, adenosylhomocysteinase activity, GO:0042745, GO:0033353, GO:0032259, GO:0019510, GO:0007584, GO:0006730, GO:0002439, GO:0001666, GO:0000096, circadian sleep/wake cycle, S-adenosylmethionine cycle, methylation, S-adenosylhomocysteine catabolic process, response to nutrient, one-carbon metabolic process, chronic inflammatory response to antigenic stimulus, response to hypoxia, sulfur amino acid metabolic process, 23 23 31 53 23 58 30 30 40 ENSG00000101445 chr20 38805705 38923024 + PPP1R16B protein_coding The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]. 26051 GO:0048471, GO:0042995, GO:0016607, GO:0005886, GO:0005886, GO:0005634, perinuclear region of cytoplasm, cell projection, nuclear speck, plasma membrane, plasma membrane, nucleus, GO:0019888, GO:0019888, GO:0017020, GO:0008157, GO:0005515, protein phosphatase regulator activity, protein phosphatase regulator activity, myosin phosphatase regulator activity, protein phosphatase 1 binding, protein binding, GO:1903670, GO:1903589, GO:1902309, GO:0061028, GO:0061028, GO:0051489, GO:0043666, GO:0035308, GO:0035307, GO:0035304, GO:0035304, GO:0014066, GO:0001938, regulation of sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of peptidyl-serine dephosphorylation, establishment of endothelial barrier, establishment of endothelial barrier, regulation of filopodium assembly, regulation of phosphoprotein phosphatase activity, negative regulation of protein dephosphorylation, positive regulation of protein dephosphorylation, regulation of protein dephosphorylation, regulation of protein dephosphorylation, regulation of phosphatidylinositol 3-kinase signaling, positive regulation of endothelial cell proliferation, 225 189 501 233 67 291 232 69 238 ENSG00000101446 chr20 45512461 45515624 - SPINT3 protein_coding 10816 GO:0005576, extracellular region, GO:0050431, GO:0048019, GO:0004867, transforming growth factor beta binding, receptor antagonist activity, serine-type endopeptidase inhibitor activity, GO:2000272, GO:0030512, GO:0010951, negative regulation of signaling receptor activity, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000101447 chr20 38926312 38953106 + FAM83D protein_coding 81610 GO:0097431, GO:0097431, GO:0072686, GO:0045171, GO:0015630, GO:0005829, GO:0005829, GO:0005737, GO:0005737, mitotic spindle pole, mitotic spindle pole, mitotic spindle, intercellular bridge, microtubule cytoskeleton, cytosol, cytosol, cytoplasm, cytoplasm, GO:0019901, GO:0019901, GO:0019894, GO:0008017, GO:0005515, protein kinase binding, protein kinase binding, kinesin binding, microtubule binding, protein binding, GO:1902808, GO:1902808, GO:1902480, GO:1902480, GO:0070372, GO:0070372, GO:0051310, GO:0051301, GO:0042176, GO:0032006, GO:0032006, GO:0016477, GO:0008283, GO:0007165, GO:0001837, positive regulation of cell cycle G1/S phase transition, positive regulation of cell cycle G1/S phase transition, protein localization to mitotic spindle, protein localization to mitotic spindle, regulation of ERK1 and ERK2 cascade, regulation of ERK1 and ERK2 cascade, metaphase plate congression, cell division, regulation of protein catabolic process, regulation of TOR signaling, regulation of TOR signaling, cell migration, cell population proliferation, signal transduction, epithelial to mesenchymal transition, 2 6 6 10 0 0 7 3 7 ENSG00000101448 chr20 45540626 45547752 - EPPIN protein_coding This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]. 57119 GO:0097524, GO:0032991, GO:0009986, GO:0005615, GO:0005615, sperm plasma membrane, protein-containing complex, cell surface, extracellular space, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:1901318, GO:0090281, GO:0042742, GO:0019730, GO:0010951, GO:0010466, GO:0010466, negative regulation of flagellated sperm motility, negative regulation of calcium ion import, defense response to bacterium, antimicrobial humoral response, negative regulation of endopeptidase activity, negative regulation of peptidase activity, negative regulation of peptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000101452 chr20 38962299 39039723 + DHX35 protein_coding DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]. 60625 GO:0071013, GO:0071013, GO:0005622, catalytic step 2 spliceosome, catalytic step 2 spliceosome, intracellular anatomical structure, GO:0005524, GO:0003724, GO:0003723, ATP binding, RNA helicase activity, RNA binding, GO:0000398, mRNA splicing, via spliceosome, 12 16 26 17 12 41 20 18 16 ENSG00000101457 chr20 45791937 45811427 + DNTTIP1 protein_coding DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]. 116092 GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000118, nucleolus, nucleoplasm, nucleus, nucleus, histone deacetylase complex, GO:0042803, GO:0031491, GO:0031491, GO:0005515, GO:0003677, GO:0003677, protein homodimerization activity, nucleosome binding, nucleosome binding, protein binding, DNA binding, DNA binding, 1106 905 1079 376 766 528 439 656 480 ENSG00000101460 chr20 34546854 34560345 + MAP1LC3A protein_coding MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012]. 84557 GO:0045202, GO:0044754, GO:0043231, GO:0031090, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005776, GO:0005776, GO:0005770, GO:0000421, GO:0000421, synapse, autolysosome, intracellular membrane-bounded organelle, organelle membrane, microtubule, cytosol, cytosol, cytosol, autophagosome, autophagosome, late endosome, autophagosome membrane, autophagosome membrane, GO:0031625, GO:0031625, GO:0008429, GO:0008429, GO:0008017, GO:0005543, GO:0005515, ubiquitin protein ligase binding, ubiquitin protein ligase binding, phosphatidylethanolamine binding, phosphatidylethanolamine binding, microtubule binding, phospholipid binding, protein binding, GO:0097352, GO:0097352, GO:0097352, GO:0071280, GO:0070301, GO:0043278, GO:0034198, GO:0016236, GO:0016236, GO:0016236, GO:0010288, GO:0010040, GO:0009267, GO:0006995, GO:0000422, GO:0000422, GO:0000045, GO:0000045, GO:0000045, autophagosome maturation, autophagosome maturation, autophagosome maturation, cellular response to copper ion, cellular response to hydrogen peroxide, response to morphine, cellular response to amino acid starvation, macroautophagy, macroautophagy, macroautophagy, response to lead ion, response to iron(II) ion, cellular response to starvation, cellular response to nitrogen starvation, autophagy of mitochondrion, autophagy of mitochondrion, autophagosome assembly, autophagosome assembly, autophagosome assembly, 932 946 902 2546 2324 2554 1943 1652 1829 ENSG00000101463 chr20 24469199 24666616 + SYNDIG1 protein_coding This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013]. 79953 GO:0098839, GO:0060076, GO:0044297, GO:0043231, GO:0043198, GO:0043197, GO:0031901, GO:0030672, GO:0014069, GO:0005887, postsynaptic density membrane, excitatory synapse, cell body, intracellular membrane-bounded organelle, dendritic shaft, dendritic spine, early endosome membrane, synaptic vesicle membrane, postsynaptic density, integral component of plasma membrane, GO:0042803, GO:0035254, GO:0005515, protein homodimerization activity, glutamate receptor binding, protein binding, GO:0097091, GO:0051965, GO:0006886, synaptic vesicle clustering, positive regulation of synapse assembly, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000101464 chr20 34560542 34698790 - PIGU protein_coding The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]. 128869 GO:0042765, GO:0042765, GO:0016020, GO:0005886, GO:0005789, GPI-anchor transamidase complex, GPI-anchor transamidase complex, membrane, plasma membrane, endoplasmic reticulum membrane, GO:0034235, GO:0005515, GPI anchor binding, protein binding, GO:0046425, GO:0034394, GO:0016255, GO:0016255, GO:0016255, GO:0006506, regulation of receptor signaling pathway via JAK-STAT, protein localization to cell surface, attachment of GPI anchor to protein, attachment of GPI anchor to protein, attachment of GPI anchor to protein, GPI anchor biosynthetic process, 5 8 18 66 56 99 86 29 64 ENSG00000101470 chr20 45823214 45833745 - TNNC2 protein_coding Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]. 7125 GO:0005861, GO:0005861, GO:0005829, troponin complex, troponin complex, cytosol, GO:0051015, GO:0048306, GO:0005515, GO:0005509, GO:0003779, actin filament binding, calcium-dependent protein binding, protein binding, calcium ion binding, actin binding, GO:0030049, GO:0006937, GO:0003009, GO:0003009, muscle filament sliding, regulation of muscle contraction, skeletal muscle contraction, skeletal muscle contraction, 1 1 2 7 2 3 3 6 3 ENSG00000101473 chr20 45841721 45857406 - ACOT8 protein_coding The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]. 10005 GO:0005829, GO:0005782, GO:0005782, GO:0005782, GO:0005782, cytosol, peroxisomal matrix, peroxisomal matrix, peroxisomal matrix, peroxisomal matrix, GO:0102991, GO:0052816, GO:0052815, GO:0052689, GO:0047994, GO:0047617, GO:0047617, GO:0047603, GO:0044466, GO:0033882, GO:0016290, GO:0016289, GO:0005515, GO:0004778, GO:0003986, myristoyl-CoA hydrolase activity, long-chain acyl-CoA hydrolase activity, medium-chain acyl-CoA hydrolase activity, carboxylic ester hydrolase activity, hydroxymethylglutaryl-CoA hydrolase activity, acyl-CoA hydrolase activity, acyl-CoA hydrolase activity, acetoacetyl-CoA hydrolase activity, glutaryl-CoA hydrolase activity, choloyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, CoA hydrolase activity, protein binding, succinyl-CoA hydrolase activity, acetyl-CoA hydrolase activity, GO:0045225, GO:0043649, GO:0036109, GO:0033540, GO:0016559, GO:0016032, GO:0009062, GO:0006699, GO:0006637, GO:0006637, GO:0006637, GO:0006625, negative regulation of CD4 production, dicarboxylic acid catabolic process, alpha-linolenic acid metabolic process, fatty acid beta-oxidation using acyl-CoA oxidase, peroxisome fission, viral process, fatty acid catabolic process, bile acid biosynthetic process, acyl-CoA metabolic process, acyl-CoA metabolic process, acyl-CoA metabolic process, protein targeting to peroxisome, 90 103 104 103 120 118 95 117 116 ENSG00000101474 chr20 24962925 24992979 - APMAP protein_coding 57136 GO:0016021, GO:0016020, GO:0016020, GO:0009986, integral component of membrane, membrane, membrane, cell surface, GO:0016844, GO:0005515, GO:0004064, strictosidine synthase activity, protein binding, arylesterase activity, GO:0009058, GO:0008150, biosynthetic process, biological_process, 2184 1227 2334 956 982 1258 1324 885 1188 ENSG00000101489 chr18 37243047 37566037 - CELF4 protein_coding Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 56853 GO:1990904, GO:0005737, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0042835, GO:0036002, GO:0003729, GO:0003723, GO:0000900, BRE binding, pre-mRNA binding, mRNA binding, RNA binding, translation repressor activity, mRNA regulatory element binding, GO:1902866, GO:0090394, GO:0048026, GO:0048025, GO:0017148, GO:0009792, GO:0007281, GO:0006376, GO:0000381, GO:0000381, GO:0000380, regulation of retina development in camera-type eye, negative regulation of excitatory postsynaptic potential, positive regulation of mRNA splicing, via spliceosome, negative regulation of mRNA splicing, via spliceosome, negative regulation of translation, embryo development ending in birth or egg hatching, germ cell development, mRNA splice site selection, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 0 0 1 0 0 0 1 0 0 ENSG00000101493 chr18 76358190 76495190 - ZNF516 protein_coding Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]. 9658 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0033613, GO:0000987, GO:0000981, GO:0000978, metal ion binding, activating transcription factor binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0120162, GO:0060612, GO:0050873, GO:0045893, GO:0009409, GO:0006357, GO:0006355, positive regulation of cold-induced thermogenesis, adipose tissue development, brown fat cell differentiation, positive regulation of transcription, DNA-templated, response to cold, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1680 2371 2309 1127 2521 2131 1418 1984 2034 ENSG00000101542 chr18 61333582 61555773 + CDH20 protein_coding This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]. 28316 GO:0016342, GO:0016021, GO:0005912, catenin complex, integral component of membrane, adherens junction, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0034332, GO:0016339, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000101544 chr18 80109031 80147523 + ADNP2 protein_coding 22850 GO:0005634, GO:0005575, GO:0000785, nucleus, cellular_component, chromatin, GO:0046872, GO:0005515, GO:0003677, GO:0003674, GO:0000981, metal ion binding, protein binding, DNA binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0071300, GO:0060548, GO:0034599, GO:0030307, GO:0030182, GO:0010468, GO:0006357, cellular response to retinoic acid, negative regulation of cell death, cellular response to oxidative stress, positive regulation of cell growth, neuron differentiation, regulation of gene expression, regulation of transcription by RNA polymerase II, 708 728 928 1353 1121 1293 927 552 747 ENSG00000101546 chr18 80034358 80046397 + RBFA protein_coding 79863 GO:0005739, GO:0005575, mitochondrion, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, GO:0006364, biological_process, rRNA processing, 4 2 3 12 0 7 7 7 6 ENSG00000101557 chr18 158383 214629 + USP14 protein_coding This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 9097 GO:0070062, GO:0045202, GO:0031410, GO:0009986, GO:0005886, GO:0005829, GO:0005829, GO:0005634, GO:0000502, extracellular exosome, synapse, cytoplasmic vesicle, cell surface, plasma membrane, cytosol, cytosol, nucleus, proteasome complex, GO:0070628, GO:0005515, GO:0004866, GO:0004843, GO:0004197, proteasome binding, protein binding, endopeptidase inhibitor activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:1903070, GO:0061136, GO:0050920, GO:0045087, GO:0016579, GO:0016579, GO:0010951, GO:0007268, GO:0006511, negative regulation of ER-associated ubiquitin-dependent protein catabolic process, regulation of proteasomal protein catabolic process, regulation of chemotaxis, innate immune response, protein deubiquitination, protein deubiquitination, negative regulation of endopeptidase activity, chemical synaptic transmission, ubiquitin-dependent protein catabolic process, 37 42 108 118 43 82 78 53 54 ENSG00000101558 chr18 9914002 9960021 + VAPA protein_coding The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 9218 GO:0070971, GO:0048471, GO:0035577, GO:0031982, GO:0031965, GO:0016021, GO:0015630, GO:0005923, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0000139, endoplasmic reticulum exit site, perinuclear region of cytoplasm, azurophil granule membrane, vesicle, nuclear membrane, integral component of membrane, microtubule cytoskeleton, bicellular tight junction, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0046982, GO:0045296, GO:0033149, GO:0033149, GO:0019904, GO:0008017, GO:0005515, protein heterodimerization activity, cadherin binding, FFAT motif binding, FFAT motif binding, protein domain specific binding, microtubule binding, protein binding, GO:0090114, GO:0070972, GO:0061025, GO:0044829, GO:0044828, GO:0044791, GO:0043312, GO:0043123, GO:0034975, GO:0031175, GO:0031175, GO:0030148, GO:0016032, GO:0008219, GO:0007029, GO:0006888, COPII-coated vesicle budding, protein localization to endoplasmic reticulum, membrane fusion, positive regulation by host of viral genome replication, negative regulation by host of viral genome replication, positive regulation by host of viral release from host cell, neutrophil degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, protein folding in endoplasmic reticulum, neuron projection development, neuron projection development, sphingolipid biosynthetic process, viral process, cell death, endoplasmic reticulum organization, endoplasmic reticulum to Golgi vesicle-mediated transport, 2018 1386 3371 915 1202 1776 1221 1067 1764 ENSG00000101574 chr18 2537525 2571509 - METTL4 protein_coding 64863 GO:0005829, GO:0005759, GO:0005634, GO:0005634, cytosol, mitochondrial matrix, nucleus, nucleus, GO:0009007, GO:0009007, GO:0008173, GO:0008168, GO:0003676, site-specific DNA-methyltransferase (adenine-specific) activity, site-specific DNA-methyltransferase (adenine-specific) activity, RNA methyltransferase activity, methyltransferase activity, nucleic acid binding, GO:1903108, GO:1902275, GO:0120049, GO:0090296, GO:0043484, GO:0032775, GO:0006325, GO:0001510, regulation of mitochondrial transcription, regulation of chromatin organization, snRNA (adenine-N6)-methylation, regulation of mitochondrial DNA replication, regulation of RNA splicing, DNA methylation on adenine, chromatin organization, RNA methylation, 113 210 180 157 210 129 107 165 136 ENSG00000101577 chr18 2916994 3013315 - LPIN2 protein_coding Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]. 9663 GO:0005829, GO:0005789, GO:0005789, GO:0005634, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, nucleus, GO:0008195, GO:0008195, GO:0003713, GO:0003713, phosphatidate phosphatase activity, phosphatidate phosphatase activity, transcription coactivator activity, transcription coactivator activity, GO:0045944, GO:0045944, GO:0044255, GO:0032869, GO:0019432, GO:0019432, GO:0016311, GO:0009062, GO:0006656, GO:0006646, GO:0006629, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cellular lipid metabolic process, cellular response to insulin stimulus, triglyceride biosynthetic process, triglyceride biosynthetic process, dephosphorylation, fatty acid catabolic process, phosphatidylcholine biosynthetic process, phosphatidylethanolamine biosynthetic process, lipid metabolic process, 2703 3860 3178 1496 2819 1474 1630 2144 1525 ENSG00000101596 chr18 2655738 2805017 + SMCHD1 protein_coding This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]. 23347 GO:0035861, GO:0001740, GO:0000781, site of double-strand break, Barr body, chromosome, telomeric region, GO:0042803, GO:0016887, GO:0005524, GO:0005515, GO:0003677, protein homodimerization activity, ATPase activity, ATP binding, protein binding, DNA binding, GO:2001034, GO:2000042, GO:0070868, GO:0060821, GO:0060820, GO:0045739, GO:0043584, GO:0009048, GO:0006302, positive regulation of double-strand break repair via nonhomologous end joining, negative regulation of double-strand break repair via homologous recombination, heterochromatin organization involved in chromatin silencing, inactivation of X chromosome by DNA methylation, inactivation of X chromosome by heterochromatin assembly, positive regulation of DNA repair, nose development, dosage compensation by inactivation of X chromosome, double-strand break repair, 25905 28634 34143 14064 25854 22581 17763 18922 18521 ENSG00000101605 chr18 3066807 3220108 - MYOM1 protein_coding The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 8736 GO:0031430, GO:0031430, GO:0005863, M band, M band, striated muscle myosin thick filament, GO:0051015, GO:0042803, GO:0042802, GO:0019900, GO:0019900, GO:0008307, GO:0005515, actin filament binding, protein homodimerization activity, identical protein binding, kinase binding, kinase binding, structural constituent of muscle, protein binding, GO:0050714, GO:0050714, GO:0010737, GO:0010628, GO:0010628, GO:0006936, positive regulation of protein secretion, positive regulation of protein secretion, protein kinase A signaling, positive regulation of gene expression, positive regulation of gene expression, muscle contraction, 24 27 27 23 36 44 45 14 32 ENSG00000101608 chr18 3247481 3256236 + MYL12A protein_coding This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]. 10627 GO:0070062, GO:0016459, GO:0005829, extracellular exosome, myosin complex, cytosol, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0070527, GO:0006936, platelet aggregation, muscle contraction, 2928 2400 3360 1300 2075 1891 1607 2117 1845 ENSG00000101624 chr18 12661833 12702777 - CEP76 protein_coding This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 79959 GO:0032991, GO:0005829, GO:0005814, GO:0005813, protein-containing complex, cytosol, centriole, centrosome, GO:0005515, protein binding, GO:0097711, GO:0046599, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, regulation of centriole replication, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 3 3 15 21 6 16 7 4 6 ENSG00000101638 chr18 46667821 46759257 - ST8SIA5 protein_coding The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]. 29906 GO:0016021, GO:0000139, GO:0000139, integral component of membrane, Golgi membrane, Golgi membrane, GO:0008373, GO:0005515, GO:0003828, sialyltransferase activity, protein binding, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, GO:0097503, GO:0009311, GO:0006688, GO:0006491, GO:0006486, GO:0006486, GO:0005975, sialylation, oligosaccharide metabolic process, glycosphingolipid biosynthetic process, N-glycan processing, protein glycosylation, protein glycosylation, carbohydrate metabolic process, 0 0 0 0 1 0 0 0 0 ENSG00000101639 chr18 12991362 13125052 + CEP192 protein_coding 55125 GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0000242, cytosol, cytosol, centriole, centrosome, pericentriolar material, GO:0019902, GO:0005515, phosphatase binding, protein binding, GO:0097711, GO:0090307, GO:0090222, GO:0071539, GO:0051298, GO:0010923, GO:0010389, GO:0009617, GO:0000086, ciliary basal body-plasma membrane docking, mitotic spindle assembly, centrosome-templated microtubule nucleation, protein localization to centrosome, centrosome duplication, negative regulation of phosphatase activity, regulation of G2/M transition of mitotic cell cycle, response to bacterium, G2/M transition of mitotic cell cycle, 346 426 470 228 325 298 220 204 212 ENSG00000101654 chr18 13726660 13764558 + RNMT protein_coding 8731 GO:0043235, GO:0031533, GO:0005845, GO:0005845, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, receptor complex, mRNA cap methyltransferase complex, mRNA cap binding complex, mRNA cap binding complex, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0005515, GO:0004482, GO:0004482, GO:0004482, GO:0004482, GO:0003723, protein binding, mRNA (guanine-N7-)-methyltransferase activity, mRNA (guanine-N7-)-methyltransferase activity, mRNA (guanine-N7-)-methyltransferase activity, mRNA (guanine-N7-)-methyltransferase activity, RNA binding, GO:1990830, GO:0106005, GO:0006370, GO:0006370, GO:0006370, GO:0006370, GO:0006366, cellular response to leukemia inhibitory factor, RNA 5'-cap (guanine-N7)-methylation, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, transcription by RNA polymerase II, 257 337 355 1408 1166 1196 1229 704 626 ENSG00000101665 chr18 48919853 48952052 - SMAD7 protein_coding The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 4092 GO:0071144, GO:0032991, GO:0016342, GO:0005912, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001650, GO:0000785, GO:0000785, heteromeric SMAD protein complex, protein-containing complex, catenin complex, adherens junction, plasma membrane, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, fibrillar center, chromatin, chromatin, GO:0140416, GO:0140416, GO:0070411, GO:0070411, GO:0048185, GO:0046872, GO:0034713, GO:0031625, GO:0008013, GO:0005518, GO:0005515, transcription regulator inhibitor activity, transcription regulator inhibitor activity, I-SMAD binding, I-SMAD binding, activin binding, metal ion binding, type I transforming growth factor beta receptor binding, ubiquitin protein ligase binding, beta-catenin binding, collagen binding, protein binding, GO:2000320, GO:2000317, GO:1990830, GO:1903043, GO:1902731, GO:0071560, GO:0060412, GO:0060395, GO:0060394, GO:0060394, GO:0060389, GO:0060373, GO:0055117, GO:0055010, GO:0051444, GO:0050821, GO:0048844, GO:0045944, GO:0043433, GO:0034629, GO:0034616, GO:0034333, GO:0033137, GO:0032925, GO:0032436, GO:0031398, GO:0031397, GO:0030514, GO:0030512, GO:0030512, GO:0030509, GO:0030509, GO:0030336, GO:0030279, GO:0030154, GO:0022409, GO:0017015, GO:0016579, GO:0010944, GO:0010801, GO:0010719, GO:0010719, GO:0010717, GO:0009653, GO:0007179, GO:0006357, GO:0002725, GO:0001657, GO:0000122, negative regulation of T-helper 17 cell differentiation, negative regulation of T-helper 17 type immune response, cellular response to leukemia inhibitory factor, positive regulation of chondrocyte hypertrophy, negative regulation of chondrocyte proliferation, cellular response to transforming growth factor beta stimulus, ventricular septum morphogenesis, SMAD protein signal transduction, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of pathway-restricted SMAD protein phosphorylation, pathway-restricted SMAD protein phosphorylation, regulation of ventricular cardiac muscle cell membrane depolarization, regulation of cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, negative regulation of ubiquitin-protein transferase activity, protein stabilization, artery morphogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of DNA-binding transcription factor activity, cellular protein-containing complex localization, response to laminar fluid shear stress, adherens junction assembly, negative regulation of peptidyl-serine phosphorylation, regulation of activin receptor signaling pathway, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein ubiquitination, negative regulation of protein ubiquitination, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, BMP signaling pathway, negative regulation of cell migration, negative regulation of ossification, cell differentiation, positive regulation of cell-cell adhesion, regulation of transforming growth factor beta receptor signaling pathway, protein deubiquitination, negative regulation of transcription by competitive promoter binding, negative regulation of peptidyl-threonine phosphorylation, negative regulation of epithelial to mesenchymal transition, negative regulation of epithelial to mesenchymal transition, regulation of epithelial to mesenchymal transition, anatomical structure morphogenesis, transforming growth factor beta receptor signaling pathway, regulation of transcription by RNA polymerase II, negative regulation of T cell cytokine production, ureteric bud development, negative regulation of transcription by RNA polymerase II, 138 109 368 72 51 142 39 40 81 ENSG00000101670 chr18 49560699 49599182 + LIPG protein_coding The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]. 9388 GO:0009986, GO:0005794, GO:0005769, GO:0005615, GO:0005615, GO:0005576, cell surface, Golgi apparatus, early endosome, extracellular space, extracellular space, extracellular region, GO:0052740, GO:0052739, GO:0016298, GO:0008970, GO:0008201, GO:0004806, GO:0004620, GO:0004620, GO:0004465, 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, lipase activity, phospholipase A1 activity, heparin binding, triglyceride lipase activity, phospholipase activity, phospholipase activity, lipoprotein lipase activity, GO:0055091, GO:0050746, GO:0043691, GO:0042632, GO:0034375, GO:0034375, GO:0032376, GO:0019433, GO:0016042, GO:0010983, GO:0009395, GO:0008283, GO:0007584, GO:0006633, GO:0006629, phospholipid homeostasis, regulation of lipoprotein metabolic process, reverse cholesterol transport, cholesterol homeostasis, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, positive regulation of cholesterol transport, triglyceride catabolic process, lipid catabolic process, positive regulation of high-density lipoprotein particle clearance, phospholipid catabolic process, cell population proliferation, response to nutrient, fatty acid biosynthetic process, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000101680 chr18 6941744 7117814 - LAMA1 protein_coding This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]. 284217 GO:0062023, GO:0062023, GO:0031012, GO:0016020, GO:0005911, GO:0005615, GO:0005608, GO:0005606, GO:0005606, GO:0005604, GO:0005604, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, membrane, cell-cell junction, extracellular space, laminin-3 complex, laminin-1 complex, laminin-1 complex, basement membrane, basement membrane, extracellular region, GO:0043208, GO:0008022, GO:0005515, GO:0005201, GO:0005201, GO:0005102, glycosphingolipid binding, protein C-terminus binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, signaling receptor binding, GO:0061304, GO:0060445, GO:0060441, GO:0048514, GO:0045995, GO:0045198, GO:0043010, GO:0030334, GO:0030198, GO:0030155, GO:0009888, GO:0009887, GO:0007411, GO:0007166, GO:0007155, GO:0006468, GO:0002011, retinal blood vessel morphogenesis, branching involved in salivary gland morphogenesis, epithelial tube branching involved in lung morphogenesis, blood vessel morphogenesis, regulation of embryonic development, establishment of epithelial cell apical/basal polarity, camera-type eye development, regulation of cell migration, extracellular matrix organization, regulation of cell adhesion, tissue development, animal organ morphogenesis, axon guidance, cell surface receptor signaling pathway, cell adhesion, protein phosphorylation, morphogenesis of an epithelial sheet, 0 0 0 0 0 0 0 0 0 ENSG00000101695 chr18 32018372 32073213 + RNF125 protein_coding This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]. 54941 GO:0043231, GO:0034098, GO:0034098, GO:0000139, intracellular membrane-bounded organelle, VCP-NPL4-UFD1 AAA ATPase complex, VCP-NPL4-UFD1 AAA ATPase complex, Golgi membrane, GO:0061630, GO:0061630, GO:0031624, GO:0008270, GO:0005515, GO:0002039, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin conjugating enzyme binding, zinc ion binding, protein binding, p53 binding, GO:0039536, GO:0032480, GO:0006511, GO:0006511, GO:0002250, GO:0000209, GO:0000209, negative regulation of RIG-I signaling pathway, negative regulation of type I interferon production, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, adaptive immune response, protein polyubiquitination, protein polyubiquitination, 145 151 219 254 117 341 194 84 239 ENSG00000101745 chr18 9136228 9285985 + ANKRD12 protein_coding This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]. 23253 GO:0005829, GO:0005654, cytosol, nucleoplasm, 2352 1991 2639 1585 2106 1898 2027 1686 1618 ENSG00000101746 chr18 33851100 34224952 - NOL4 protein_coding 8715 GO:0005730, nucleolus, GO:0003723, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000101751 chr18 54269404 54321266 + POLI protein_coding The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017]. 11201 GO:0036464, GO:0016607, GO:0005654, cytoplasmic ribonucleoprotein granule, nuclear speck, nucleoplasm, GO:0046872, GO:0005515, GO:0003887, GO:0003887, GO:0003684, metal ion binding, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, damaged DNA binding, GO:0042276, GO:0019985, GO:0019985, GO:0006281, GO:0006260, error-prone translesion synthesis, translesion synthesis, translesion synthesis, DNA repair, DNA replication, 142 99 97 176 144 138 213 103 140 ENSG00000101752 chr18 21704957 21870957 + MIB1 protein_coding This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]. 57534 GO:0031410, GO:0014069, GO:0005886, GO:0005829, GO:0005813, GO:0005737, cytoplasmic vesicle, postsynaptic density, plasma membrane, cytosol, centrosome, cytoplasm, GO:0008270, GO:0005515, GO:0004842, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0045807, GO:0045665, GO:0016567, GO:0016567, GO:0007219, GO:0006897, GO:0006511, GO:0001947, GO:0001841, GO:0001756, GO:0001701, GO:0001568, positive regulation of endocytosis, negative regulation of neuron differentiation, protein ubiquitination, protein ubiquitination, Notch signaling pathway, endocytosis, ubiquitin-dependent protein catabolic process, heart looping, neural tube formation, somitogenesis, in utero embryonic development, blood vessel development, 626 581 671 457 594 586 521 407 498 ENSG00000101773 chr18 22798261 23026488 + RBBP8 protein_coding The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]. 5932 GO:0043231, GO:0035861, GO:0017053, GO:0005654, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, site of double-strand break, transcription repressor complex, nucleoplasm, nucleoplasm, nucleus, GO:0070336, GO:0042802, GO:0005515, GO:0003714, GO:0003697, GO:0003690, GO:0003684, GO:0003684, GO:0001103, GO:0000406, GO:0000403, GO:0000014, GO:0000014, flap-structured DNA binding, identical protein binding, protein binding, transcription corepressor activity, single-stranded DNA binding, double-stranded DNA binding, damaged DNA binding, damaged DNA binding, RNA polymerase II repressing transcription factor binding, double-strand/single-strand DNA junction binding, Y-form DNA binding, single-stranded DNA endodeoxyribonuclease activity, single-stranded DNA endodeoxyribonuclease activity, GO:1903507, GO:1901796, GO:0090305, GO:0070317, GO:0051321, GO:0051301, GO:0032355, GO:0010792, GO:0010792, GO:0006357, GO:0006281, GO:0006260, GO:0001835, GO:0000729, GO:0000724, GO:0000724, GO:0000082, negative regulation of nucleic acid-templated transcription, regulation of signal transduction by p53 class mediator, nucleic acid phosphodiester bond hydrolysis, negative regulation of G0 to G1 transition, meiotic cell cycle, cell division, response to estradiol, DNA double-strand break processing involved in repair via single-strand annealing, DNA double-strand break processing involved in repair via single-strand annealing, regulation of transcription by RNA polymerase II, DNA repair, DNA replication, blastocyst hatching, DNA double-strand break processing, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, G1/S transition of mitotic cell cycle, 58 47 52 23 28 44 22 30 15 ENSG00000101782 chr18 23452823 23486603 + RIOK3 protein_coding This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]. 8780 GO:0030688, GO:0030688, GO:0005829, GO:0005829, preribosome, small subunit precursor, preribosome, small subunit precursor, cytosol, cytosol, GO:0106311, GO:0106310, GO:0089720, GO:0046872, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, caspase binding, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1990786, GO:0098586, GO:0071359, GO:0051607, GO:0045089, GO:0045087, GO:0043124, GO:0039534, GO:0032728, GO:0031333, GO:0030490, GO:0030490, GO:0007059, GO:0006468, cellular response to dsDNA, cellular response to virus, cellular response to dsRNA, defense response to virus, positive regulation of innate immune response, innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of MDA-5 signaling pathway, positive regulation of interferon-beta production, negative regulation of protein-containing complex assembly, maturation of SSU-rRNA, maturation of SSU-rRNA, chromosome segregation, protein phosphorylation, 1294 1437 1459 1218 1367 1293 1277 1195 1123 ENSG00000101811 chrX 100820359 100840932 + CSTF2 protein_coding This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]. 1478 GO:0071920, GO:0016604, GO:0005847, GO:0005847, GO:0005654, GO:0005654, cleavage body, nuclear body, mRNA cleavage and polyadenylation specificity factor complex, mRNA cleavage and polyadenylation specificity factor complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003729, GO:0003723, GO:0003723, protein binding, mRNA binding, RNA binding, RNA binding, GO:0098789, GO:0031124, GO:0006388, GO:0006378, GO:0006369, GO:0000398, pre-mRNA cleavage required for polyadenylation, mRNA 3'-end processing, tRNA splicing, via endonucleolytic cleavage and ligation, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 9 8 20 18 10 26 11 3 34 ENSG00000101812 chrX 104039949 104042454 + H2BFM protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family. [provided by RefSeq, Nov 2015]. 286436 GO:0005634, GO:0000786, nucleus, nucleosome, GO:0046982, GO:0003677, protein heterodimerization activity, DNA binding, GO:0006334, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000101825 chrX 3308565 3346641 - MXRA5 protein_coding This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010]. 25878 GO:0070062, GO:0062023, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, extracellular region, GO:0005201, GO:0005201, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0071559, GO:0071559, response to transforming growth factor beta, response to transforming growth factor beta, 0 0 0 0 0 0 0 0 0 ENSG00000101842 chrX 108044970 108079184 + VSIG1 protein_coding This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 340547 GO:0016323, GO:0016021, basolateral plasma membrane, integral component of membrane, GO:0005515, protein binding, GO:0030277, GO:0003382, maintenance of gastrointestinal epithelium, epithelial cell morphogenesis, 15 7 22 70 11 56 33 11 33 ENSG00000101843 chrX 108084207 108091618 - PSMD10 protein_coding This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]. 5716 GO:0045111, GO:0008540, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000502, intermediate filament cytoskeleton, proteasome regulatory particle, base subcomplex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, proteasome complex, GO:0008134, GO:0005515, transcription factor binding, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090201, GO:0090090, GO:0070682, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0045737, GO:0043687, GO:0043518, GO:0043488, GO:0043409, GO:0043161, GO:0043066, GO:0043066, GO:0038095, GO:0038061, GO:0033209, GO:0032436, GO:0032436, GO:0032088, GO:0031398, GO:0031146, GO:0031145, GO:0030307, GO:0016579, GO:0010972, GO:0007253, GO:0006915, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, GO:0000122, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of release of cytochrome c from mitochondria, negative regulation of canonical Wnt signaling pathway, proteasome regulatory particle assembly, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, positive regulation of cyclin-dependent protein serine/threonine kinase activity, post-translational protein modification, negative regulation of DNA damage response, signal transduction by p53 class mediator, regulation of mRNA stability, negative regulation of MAPK cascade, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, negative regulation of apoptotic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of NF-kappaB transcription factor activity, positive regulation of protein ubiquitination, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, positive regulation of cell growth, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, cytoplasmic sequestering of NF-kappaB, apoptotic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, negative regulation of transcription by RNA polymerase II, 58 59 104 31 35 42 25 43 45 ENSG00000101844 chrX 108091668 108154671 + ATG4A protein_coding Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. [provided by RefSeq, Mar 2016]. 115201 GO:0005737, cytoplasm, GO:0008234, GO:0005515, GO:0004197, cysteine-type peptidase activity, protein binding, cysteine-type endopeptidase activity, GO:0015031, GO:0006914, GO:0006508, protein transport, autophagy, proteolysis, 33 47 47 35 34 36 37 22 48 ENSG00000101846 chrX 7219456 7354810 + STS protein_coding This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]. 412 GO:0043231, GO:0016021, GO:0016020, GO:0005886, GO:0005794, GO:0005789, GO:0005788, GO:0005783, GO:0005768, GO:0005764, intracellular membrane-bounded organelle, integral component of membrane, membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, endosome, lysosome, GO:0046872, GO:0008484, GO:0004773, GO:0004065, metal ion binding, sulfuric ester hydrolase activity, steryl-sulfatase activity, arylsulfatase activity, GO:0008544, GO:0007565, GO:0006706, GO:0006687, epidermis development, female pregnancy, steroid catabolic process, glycosphingolipid metabolic process, 22 56 64 13 43 13 22 29 6 ENSG00000101849 chrX 9463295 9741037 + TBL1X protein_coding The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]. 6907 GO:0072686, GO:0017053, GO:0005654, GO:0005634, GO:0000118, GO:0000118, mitotic spindle, transcription repressor complex, nucleoplasm, nucleus, histone deacetylase complex, histone deacetylase complex, GO:0042393, GO:0019904, GO:0008134, GO:0008022, GO:0008013, GO:0005515, GO:0003714, GO:0003714, GO:0003714, GO:0000976, histone binding, protein domain specific binding, transcription factor binding, protein C-terminus binding, beta-catenin binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, transcription regulatory region sequence-specific DNA binding, GO:0090263, GO:0050821, GO:0045944, GO:0045893, GO:0043161, GO:0019216, GO:0016575, GO:0007605, GO:0006508, GO:0006357, GO:0000122, positive regulation of canonical Wnt signaling pathway, protein stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of lipid metabolic process, histone deacetylation, sensory perception of sound, proteolysis, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1962 1709 2495 1441 1808 1832 1383 1372 1522 ENSG00000101850 chrX 9725346 9786297 - GPR143 protein_coding This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]. 4935 GO:0042470, GO:0033162, GO:0033162, GO:0016324, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005765, GO:0005737, melanosome, melanosome membrane, melanosome membrane, apical plasma membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, lysosomal membrane, cytoplasm, GO:0072545, GO:0072545, GO:0072544, GO:0072544, GO:0035643, GO:0035643, GO:0035240, GO:0035240, GO:0005515, GO:0004930, tyrosine binding, tyrosine binding, L-DOPA binding, L-DOPA binding, L-DOPA receptor activity, L-DOPA receptor activity, dopamine binding, dopamine binding, protein binding, G protein-coupled receptor activity, GO:1903056, GO:1902908, GO:0050848, GO:0050848, GO:0048015, GO:0035584, GO:0032438, GO:0032438, GO:0032402, GO:0032400, GO:0007601, GO:0007218, GO:0007186, GO:0007186, GO:0007186, GO:0007186, GO:0007165, GO:0006726, regulation of melanosome organization, regulation of melanosome transport, regulation of calcium-mediated signaling, regulation of calcium-mediated signaling, phosphatidylinositol-mediated signaling, calcium-mediated signaling using intracellular calcium source, melanosome organization, melanosome organization, melanosome transport, melanosome localization, visual perception, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, eye pigment biosynthetic process, 0 2 0 13 9 5 2 0 12 ENSG00000101856 chrX 119236245 119244466 + PGRMC1 protein_coding This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010]. 10857 GO:0045202, GO:0044297, GO:0043025, GO:0043005, GO:0035579, GO:0030868, GO:0016020, GO:0016020, GO:0012505, GO:0005887, GO:0005886, GO:0005783, GO:0005741, synapse, cell body, neuronal cell body, neuron projection, specific granule membrane, smooth endoplasmic reticulum membrane, membrane, membrane, endomembrane system, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, mitochondrial outer membrane, GO:0046872, GO:0042803, GO:0020037, GO:0005515, GO:0005496, GO:0001540, metal ion binding, protein homodimerization activity, heme binding, protein binding, steroid binding, amyloid-beta binding, GO:0043312, GO:0006783, neutrophil degranulation, heme biosynthetic process, 35 29 57 48 25 59 33 34 52 ENSG00000101868 chrX 24693919 24996986 + POLA1 protein_coding This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]. 5422 GO:0016363, GO:0005829, GO:0005730, GO:0005658, GO:0005658, GO:0005658, GO:0005654, GO:0005654, GO:0005635, GO:0005634, GO:0000785, nuclear matrix, cytosol, nucleolus, alpha DNA polymerase:primase complex, alpha DNA polymerase:primase complex, alpha DNA polymerase:primase complex, nucleoplasm, nucleoplasm, nuclear envelope, nucleus, chromatin, GO:0051539, GO:0046872, GO:0019901, GO:0019103, GO:0017076, GO:0005515, GO:0003887, GO:0003887, GO:0003887, GO:0003697, GO:0003688, GO:0003682, GO:0003682, GO:0003677, GO:0000166, 4 iron, 4 sulfur cluster binding, metal ion binding, protein kinase binding, pyrimidine nucleotide binding, purine nucleotide binding, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, single-stranded DNA binding, DNA replication origin binding, chromatin binding, chromatin binding, DNA binding, nucleotide binding, GO:1904161, GO:1902975, GO:0032479, GO:0032201, GO:0016032, GO:0006303, GO:0006289, GO:0006281, GO:0006281, GO:0006273, GO:0006273, GO:0006272, GO:0006272, GO:0006271, GO:0006270, GO:0006270, GO:0006269, GO:0006260, GO:0000731, GO:0000083, GO:0000082, DNA synthesis involved in UV-damage excision repair, mitotic DNA replication initiation, regulation of type I interferon production, telomere maintenance via semi-conservative replication, viral process, double-strand break repair via nonhomologous end joining, nucleotide-excision repair, DNA repair, DNA repair, lagging strand elongation, lagging strand elongation, leading strand elongation, leading strand elongation, DNA strand elongation involved in DNA replication, DNA replication initiation, DNA replication initiation, DNA replication, synthesis of RNA primer, DNA replication, DNA synthesis involved in DNA repair, regulation of transcription involved in G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 14 7 18 44 11 20 16 8 11 ENSG00000101871 chrX 10445310 10833654 - MID1 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]. 4281 GO:0005881, GO:0005875, GO:0005874, GO:0005829, GO:0005819, cytoplasmic microtubule, microtubule associated complex, microtubule, cytosol, spindle, GO:0051219, GO:0042803, GO:0042802, GO:0031625, GO:0019899, GO:0016740, GO:0008270, GO:0008017, GO:0005515, phosphoprotein binding, protein homodimerization activity, identical protein binding, ubiquitin protein ligase binding, enzyme binding, transferase activity, zinc ion binding, microtubule binding, protein binding, GO:0060333, GO:0035372, GO:0032874, GO:0007389, GO:0007026, GO:0000226, interferon-gamma-mediated signaling pathway, protein localization to microtubule, positive regulation of stress-activated MAPK cascade, pattern specification process, negative regulation of microtubule depolymerization, microtubule cytoskeleton organization, 1 1 1 0 1 4 0 2 0 ENSG00000101882 chrX 119920672 119943772 - NKAP protein_coding This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]. 79576 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0031490, GO:0005515, GO:0003723, GO:0003682, GO:0003682, chromatin DNA binding, protein binding, RNA binding, chromatin binding, chromatin binding, GO:0071425, GO:0046638, GO:0045892, GO:0045892, GO:0033077, GO:0030851, GO:0019827, GO:0010468, GO:0007219, GO:0000122, hematopoietic stem cell proliferation, positive regulation of alpha-beta T cell differentiation, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, T cell differentiation in thymus, granulocyte differentiation, stem cell population maintenance, regulation of gene expression, Notch signaling pathway, negative regulation of transcription by RNA polymerase II, 220 171 255 95 158 161 138 124 171 ENSG00000101883 chrX 120109053 120115937 - RHOXF1 protein_coding This gene is a member of the PEPP subfamily of paired-like homoebox genes. The gene may be regulated by androgens and epigenetic mechanisms. The encoded nuclear protein is likely a transcription factor that may play a role in human reproduction. [provided by RefSeq, Dec 2012]. 158800 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048484, GO:0030518, GO:0019953, GO:0010628, GO:0007276, GO:0007275, GO:0006357, GO:0006355, enteric nervous system development, intracellular steroid hormone receptor signaling pathway, sexual reproduction, positive regulation of gene expression, gamete generation, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 4 0 0 0 ENSG00000101888 chrX 109535781 109544690 + NXT2 protein_coding The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]. 55916 GO:0048471, GO:0044613, GO:0005829, GO:0005654, perinuclear region of cytoplasm, nuclear pore central transport channel, cytosol, nucleoplasm, GO:0005515, protein binding, GO:0051028, GO:0006913, GO:0006606, mRNA transport, nucleocytoplasmic transport, protein import into nucleus, 36 21 60 31 24 66 28 24 44 ENSG00000101890 chrX 109372906 109482072 - GUCY2F protein_coding The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]. 2986 GO:0120200, GO:0097381, GO:0005887, GO:0005886, GO:0005640, rod photoreceptor outer segment, photoreceptor disc membrane, integral component of plasma membrane, plasma membrane, nuclear outer membrane, GO:0044877, GO:0042802, GO:0038023, GO:0005525, GO:0005524, GO:0004672, GO:0004383, GO:0001653, protein-containing complex binding, identical protein binding, signaling receptor activity, GTP binding, ATP binding, protein kinase activity, guanylate cyclase activity, peptide receptor activity, GO:0050908, GO:0022400, GO:0019934, GO:0007601, GO:0007168, GO:0007165, GO:0006468, GO:0006182, detection of light stimulus involved in visual perception, regulation of rhodopsin mediated signaling pathway, cGMP-mediated signaling, visual perception, receptor guanylyl cyclase signaling pathway, signal transduction, protein phosphorylation, cGMP biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000101892 chrX 120362085 120383249 + ATP1B4 protein_coding This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 23439 GO:0005890, GO:0005887, GO:0005637, GO:0005637, GO:0005635, sodium:potassium-exchanging ATPase complex, integral component of plasma membrane, nuclear inner membrane, nuclear inner membrane, nuclear envelope, GO:0015077, GO:0005515, monovalent inorganic cation transmembrane transporter activity, protein binding, GO:0045944, GO:0015672, GO:0006355, GO:0006355, positive regulation of transcription by RNA polymerase II, monovalent inorganic cation transport, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000101898 chr20 31547412 31548081 + MCTS2P protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000101901 chrX 111665811 111760649 + ALG13 protein_coding The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 79868 GO:0005789, endoplasmic reticulum membrane, GO:0008234, GO:0004843, GO:0004577, GO:0003723, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity, RNA binding, GO:0006508, GO:0006488, proteolysis, dolichol-linked oligosaccharide biosynthetic process, 141 135 182 312 186 279 226 135 254 ENSG00000101911 chrX 12791355 12824222 + PRPS2 protein_coding This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 5634 GO:0005737, GO:0002189, cytoplasm, ribose phosphate diphosphokinase complex, GO:0043531, GO:0042803, GO:0042802, GO:0030246, GO:0019003, GO:0016301, GO:0016208, GO:0005524, GO:0005524, GO:0005515, GO:0004749, GO:0004749, GO:0000287, ADP binding, protein homodimerization activity, identical protein binding, carbohydrate binding, GDP binding, kinase activity, AMP binding, ATP binding, ATP binding, protein binding, ribose phosphate diphosphokinase activity, ribose phosphate diphosphokinase activity, magnesium ion binding, GO:0031100, GO:0016310, GO:0009116, GO:0006167, GO:0006164, GO:0006139, GO:0006015, GO:0006015, animal organ regeneration, phosphorylation, nucleoside metabolic process, AMP biosynthetic process, purine nucleotide biosynthetic process, nucleobase-containing compound metabolic process, 5-phosphoribose 1-diphosphate biosynthetic process, 5-phosphoribose 1-diphosphate biosynthetic process, 31 38 58 56 31 66 34 23 46 ENSG00000101916 chrX 12906620 12923169 + TLR8 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]. 51311 GO:0036020, GO:0016021, GO:0010008, GO:0009897, GO:0005886, GO:0005789, GO:0000139, endolysosome membrane, integral component of membrane, endosome membrane, external side of plasma membrane, plasma membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0038187, GO:0038023, GO:0008144, GO:0004888, GO:0003727, GO:0003725, GO:0003723, GO:0003677, pattern recognition receptor activity, signaling receptor activity, drug binding, transmembrane signaling receptor activity, single-stranded RNA binding, double-stranded RNA binding, RNA binding, DNA binding, GO:0071260, GO:0051607, GO:0051607, GO:0045089, GO:0045087, GO:0034162, GO:0034158, GO:0032757, GO:0032755, GO:0032755, GO:0032731, GO:0032729, GO:0032728, GO:0032727, GO:0032695, GO:0016064, GO:0009615, GO:0007249, GO:0007249, GO:0006955, GO:0002755, GO:0002224, GO:0002224, GO:0001932, GO:0001817, GO:0001774, cellular response to mechanical stimulus, defense response to virus, defense response to virus, positive regulation of innate immune response, innate immune response, toll-like receptor 9 signaling pathway, toll-like receptor 8 signaling pathway, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, negative regulation of interleukin-12 production, immunoglobulin mediated immune response, response to virus, I-kappaB kinase/NF-kappaB signaling, I-kappaB kinase/NF-kappaB signaling, immune response, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of protein phosphorylation, regulation of cytokine production, microglial cell activation, 3065 1850 2391 393 885 567 579 890 642 ENSG00000101928 chrX 134887626 134915267 - MOSPD1 protein_coding 56180 GO:0048471, GO:0016021, GO:0005789, GO:0005737, GO:0005737, GO:0005634, GO:0000139, perinuclear region of cytoplasm, integral component of membrane, endoplasmic reticulum membrane, cytoplasm, cytoplasm, nucleus, Golgi membrane, GO:0005515, protein binding, GO:0045944, GO:0030154, GO:0000122, positive regulation of transcription by RNA polymerase II, cell differentiation, negative regulation of transcription by RNA polymerase II, 50 45 89 53 35 46 29 24 44 ENSG00000101935 chrX 110194186 110440233 - AMMECR1 protein_coding The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 9949 GO:0005739, GO:0005654, GO:0005634, GO:0005634, mitochondrion, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0008150, biological_process, 46 32 42 80 74 135 107 47 73 ENSG00000101938 chrX 110673856 110795819 - CHRDL1 protein_coding This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]. 91851 GO:0005788, GO:0005576, endoplasmic reticulum lumen, extracellular region, GO:0044267, GO:0043687, GO:0030514, GO:0030509, GO:0030154, GO:0007399, GO:0001654, GO:0001503, cellular protein metabolic process, post-translational protein modification, negative regulation of BMP signaling pathway, BMP signaling pathway, cell differentiation, nervous system development, eye development, ossification, 0 0 0 0 0 1 0 0 0 ENSG00000101940 chrX 48590042 48608867 + WDR13 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. A similar protein in mouse is thought to be a negative regulator of the pancreatic beta cell proliferation. Mice lacking this gene exhibit increased pancreatic islet mass and higher serum insulin levels, and are mildly obese. [provided by RefSeq, Nov 2016]. 64743 GO:0034451, GO:0005886, GO:0005654, centriolar satellite, plasma membrane, nucleoplasm, GO:1990841, promoter-specific chromatin binding, GO:1904691, negative regulation of type B pancreatic cell proliferation, 304 271 325 273 343 336 286 254 207 ENSG00000101945 chrX 48695554 48709012 + SUV39H1 protein_coding This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 6839 GO:0033553, GO:0005677, GO:0005654, GO:0005652, GO:0005634, GO:0005634, GO:0000794, GO:0000792, GO:0000775, rDNA heterochromatin, chromatin silencing complex, nucleoplasm, nuclear lamina, nucleus, nucleus, condensed nuclear chromosome, heterochromatin, chromosome, centromeric region, GO:0047485, GO:0046974, GO:0046974, GO:0046974, GO:0042054, GO:0018024, GO:0008757, GO:0008270, GO:0005515, GO:0003682, GO:0000976, protein N-terminus binding, histone methyltransferase activity (H3-K9 specific), histone methyltransferase activity (H3-K9 specific), histone methyltransferase activity (H3-K9 specific), histone methyltransferase activity, histone-lysine N-methyltransferase activity, S-adenosylmethionine-dependent methyltransferase activity, zinc ion binding, protein binding, chromatin binding, transcription regulatory region sequence-specific DNA binding, GO:0071456, GO:0048511, GO:0045892, GO:0042754, GO:0036124, GO:0036123, GO:0034968, GO:0030154, GO:0016032, GO:0007049, GO:0006974, GO:0006364, GO:0006325, GO:0000183, GO:0000183, GO:0000122, cellular response to hypoxia, rhythmic process, negative regulation of transcription, DNA-templated, negative regulation of circadian rhythm, histone H3-K9 trimethylation, histone H3-K9 dimethylation, histone lysine methylation, cell differentiation, viral process, cell cycle, cellular response to DNA damage stimulus, rRNA processing, chromatin organization, rDNA heterochromatin assembly, rDNA heterochromatin assembly, negative regulation of transcription by RNA polymerase II, 26 42 30 11 13 31 25 25 31 ENSG00000101951 chrX 49829260 49833973 + PAGE4 protein_coding This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer. It is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. The protein may play a role in benign and malignant prostate diseases. A related pseudogene is located on chromosome 7. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 9506 GO:0005739, GO:0005737, GO:0005634, mitochondrion, cytoplasm, nucleus, GO:0005515, GO:0003713, GO:0003713, GO:0003677, protein binding, transcription coactivator activity, transcription coactivator activity, DNA binding, GO:1903508, GO:1903427, GO:1903202, GO:0043066, GO:0043066, GO:0042594, GO:0032872, GO:0006979, positive regulation of nucleic acid-templated transcription, negative regulation of reactive oxygen species biosynthetic process, negative regulation of oxidative stress-induced cell death, negative regulation of apoptotic process, negative regulation of apoptotic process, response to starvation, regulation of stress-activated MAPK cascade, response to oxidative stress, 0 0 0 0 0 0 0 0 0 ENSG00000101955 chrX 38149336 38220924 - SRPX protein_coding 8406 GO:0062023, GO:0016020, GO:0009986, GO:0005783, GO:0005776, collagen-containing extracellular matrix, membrane, cell surface, endoplasmic reticulum, autophagosome, GO:0005515, GO:0005201, protein binding, extracellular matrix structural constituent, GO:2001241, GO:0060244, GO:0034976, GO:0007155, GO:0006914, GO:0001845, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of cell proliferation involved in contact inhibition, response to endoplasmic reticulum stress, cell adhesion, autophagy, phagolysosome assembly, 0 0 1 0 0 0 0 0 0 ENSG00000101958 chrX 14529298 14731812 + GLRA2 protein_coding The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]. 2742 GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0005887, GO:0005887, GO:0005886, postsynaptic membrane, synapse, neuron projection, chloride channel complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0030594, GO:0022852, GO:0016934, GO:0016594, GO:0005254, GO:0004888, metal ion binding, neurotransmitter receptor activity, glycine-gated chloride ion channel activity, extracellularly glycine-gated chloride channel activity, glycine binding, chloride channel activity, transmembrane signaling receptor activity, GO:1902476, GO:1902476, GO:0071361, GO:0071294, GO:0071230, GO:0060079, GO:0060012, GO:0050877, GO:0043200, GO:0042391, GO:0034220, GO:0034220, GO:0007268, GO:0007268, GO:0007218, GO:0007218, GO:0007165, chloride transmembrane transport, chloride transmembrane transport, cellular response to ethanol, cellular response to zinc ion, cellular response to amino acid stimulus, excitatory postsynaptic potential, synaptic transmission, glycinergic, nervous system process, response to amino acid, regulation of membrane potential, ion transmembrane transport, ion transmembrane transport, chemical synaptic transmission, chemical synaptic transmission, neuropeptide signaling pathway, neuropeptide signaling pathway, signal transduction, 0 0 1 0 0 0 0 0 0 ENSG00000101966 chrX 123859724 123913979 + XIAP protein_coding This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]. 331 GO:0005876, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, spindle microtubule, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0061630, GO:0061630, GO:0046872, GO:0043027, GO:0042802, GO:0005515, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, identical protein binding, protein binding, ubiquitin-protein transferase activity, GO:1990001, GO:1902530, GO:0090307, GO:0090263, GO:0090263, GO:0070424, GO:0055070, GO:0051402, GO:0050727, GO:0045088, GO:0043154, GO:0043154, GO:0043066, GO:0042127, GO:0031398, GO:0031398, GO:0030510, GO:0016567, GO:0016055, GO:0006974, inhibition of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of protein linear polyubiquitination, mitotic spindle assembly, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, regulation of nucleotide-binding oligomerization domain containing signaling pathway, copper ion homeostasis, neuron apoptotic process, regulation of inflammatory response, regulation of innate immune response, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, regulation of cell population proliferation, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, regulation of BMP signaling pathway, protein ubiquitination, Wnt signaling pathway, cellular response to DNA damage stimulus, 755 720 958 282 457 427 334 393 433 ENSG00000101972 chrX 123960212 124422664 + STAG2 protein_coding The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 10735 GO:0097431, GO:0016363, GO:0016020, GO:0008278, GO:0008278, GO:0008278, GO:0005829, GO:0005694, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000775, mitotic spindle pole, nuclear matrix, membrane, cohesin complex, cohesin complex, cohesin complex, cytosol, chromosome, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromosome, centromeric region, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0090307, GO:0051321, GO:0051301, GO:0007062, GO:0007062, mitotic spindle assembly, meiotic cell cycle, cell division, sister chromatid cohesion, sister chromatid cohesion, 4910 5059 5138 2084 3202 3611 2491 2671 3090 ENSG00000101974 chrX 139726346 139945276 - ATP11C protein_coding 286410 GO:0055037, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005802, GO:0005789, GO:0005783, GO:0005783, GO:0005765, recycling endosome, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, lysosomal membrane, GO:0140326, GO:0005524, GO:0005515, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATP binding, protein binding, magnesium ion binding, GO:0045579, GO:0045332, GO:0045332, GO:0034220, GO:0002329, positive regulation of B cell differentiation, phospholipid translocation, phospholipid translocation, ion transmembrane transport, pre-B cell differentiation, 253 249 295 165 135 187 180 127 141 ENSG00000101977 chrX 139581770 139708227 - MCF2 protein_coding The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]. 4168 GO:0016020, GO:0005856, GO:0005829, membrane, cytoskeleton, cytosol, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:1990830, GO:0051056, GO:0050771, GO:0043065, GO:0035556, GO:0016358, GO:0007186, cellular response to leukemia inhibitory factor, regulation of small GTPase mediated signal transduction, negative regulation of axonogenesis, positive regulation of apoptotic process, intracellular signal transduction, dendrite development, G protein-coupled receptor signaling pathway, 8 6 5 11 10 12 19 11 1 ENSG00000101981 chrX 139530758 139563458 + F9 protein_coding This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]. 2158 GO:0070062, GO:0062023, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005509, GO:0004252, GO:0004175, protein binding, calcium ion binding, serine-type endopeptidase activity, endopeptidase activity, GO:0031638, GO:0031638, GO:0007597, GO:0007596, GO:0007596, GO:0007596, GO:0006888, GO:0006508, zymogen activation, zymogen activation, blood coagulation, intrinsic pathway, blood coagulation, blood coagulation, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000101986 chrX 153724868 153744762 + ABCD1 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]. 215 GO:0048471, GO:0031966, GO:0016020, GO:0005829, GO:0005789, GO:0005779, GO:0005779, GO:0005778, GO:0005778, GO:0005778, GO:0005777, GO:0005765, GO:0005737, perinuclear region of cytoplasm, mitochondrial membrane, membrane, cytosol, endoplasmic reticulum membrane, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, lysosomal membrane, cytoplasm, GO:0043531, GO:0042803, GO:0042802, GO:0042626, GO:0042626, GO:0019899, GO:0016887, GO:0016887, GO:0015607, GO:0015607, GO:0005524, GO:0005524, GO:0005515, GO:0005324, GO:0005324, GO:0005324, ADP binding, protein homodimerization activity, identical protein binding, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, enzyme binding, ATPase activity, ATPase activity, ATPase-coupled fatty-acyl-CoA transmembrane transporter activity, ATPase-coupled fatty-acyl-CoA transmembrane transporter activity, ATP binding, ATP binding, protein binding, long-chain fatty acid transporter activity, long-chain fatty acid transporter activity, long-chain fatty acid transporter activity, GO:2001280, GO:1990535, GO:1903427, GO:1900407, GO:1900016, GO:0055092, GO:0055089, GO:0055085, GO:0051900, GO:0043651, GO:0043217, GO:0042760, GO:0042760, GO:0042760, GO:0042758, GO:0042758, GO:0036113, GO:0036109, GO:0033540, GO:0032000, GO:0032000, GO:0031998, GO:0030497, GO:0015919, GO:0015916, GO:0015910, GO:0015910, GO:0007031, GO:0007031, GO:0007031, GO:0006635, GO:0006635, GO:0006635, GO:0006635, GO:0002082, positive regulation of unsaturated fatty acid biosynthetic process, neuron projection maintenance, negative regulation of reactive oxygen species biosynthetic process, regulation of cellular response to oxidative stress, negative regulation of cytokine production involved in inflammatory response, sterol homeostasis, fatty acid homeostasis, transmembrane transport, regulation of mitochondrial depolarization, linoleic acid metabolic process, myelin maintenance, very long-chain fatty acid catabolic process, very long-chain fatty acid catabolic process, very long-chain fatty acid catabolic process, long-chain fatty acid catabolic process, long-chain fatty acid catabolic process, very long-chain fatty-acyl-CoA catabolic process, alpha-linolenic acid metabolic process, fatty acid beta-oxidation using acyl-CoA oxidase, positive regulation of fatty acid beta-oxidation, positive regulation of fatty acid beta-oxidation, regulation of fatty acid beta-oxidation, fatty acid elongation, peroxisomal membrane transport, fatty-acyl-CoA transport, long-chain fatty acid import into peroxisome, long-chain fatty acid import into peroxisome, peroxisome organization, peroxisome organization, peroxisome organization, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, regulation of oxidative phosphorylation, 164 233 222 155 210 148 136 136 107 ENSG00000101997 chrX 49235467 49250526 + CCDC22 protein_coding This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]. 28952 GO:0005829, GO:0005768, GO:0005654, GO:0005575, cytosol, endosome, nucleoplasm, cellular_component, GO:0097602, GO:0097602, GO:0005515, cullin family protein binding, cullin family protein binding, protein binding, GO:2000060, GO:2000060, GO:1990126, GO:0043687, GO:0043124, GO:0043123, GO:0032456, GO:0016567, GO:0015031, GO:0007253, GO:0006893, GO:0006878, positive regulation of ubiquitin-dependent protein catabolic process, positive regulation of ubiquitin-dependent protein catabolic process, retrograde transport, endosome to plasma membrane, post-translational protein modification, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, endocytic recycling, protein ubiquitination, protein transport, cytoplasmic sequestering of NF-kappaB, Golgi to plasma membrane transport, cellular copper ion homeostasis, 12 36 24 25 40 73 39 35 52 ENSG00000102001 chrX 49205063 49233371 - CACNA1F protein_coding This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]. 778 GO:0043204, GO:0016021, GO:0005891, GO:0005886, GO:0001750, perikaryon, integral component of membrane, voltage-gated calcium channel complex, plasma membrane, photoreceptor outer segment, GO:0046872, GO:0008331, GO:0005245, GO:0005245, metal ion binding, high voltage-gated calcium channel activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:0070588, GO:0070509, GO:0061337, GO:0050908, GO:0050856, GO:0043029, GO:0034765, GO:0007601, GO:0006816, calcium ion transmembrane transport, calcium ion import, cardiac conduction, detection of light stimulus involved in visual perception, regulation of T cell receptor signaling pathway, T cell homeostasis, regulation of ion transmembrane transport, visual perception, calcium ion transport, 5 4 5 4 7 0 7 2 1 ENSG00000102003 chrX 49187804 49200259 - SYP protein_coding This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]. 6855 GO:0060076, GO:0048786, GO:0048471, GO:0043195, GO:0043005, GO:0043005, GO:0042734, GO:0031594, GO:0030672, GO:0030285, GO:0008021, excitatory synapse, presynaptic active zone, perinuclear region of cytoplasm, terminal bouton, neuron projection, neuron projection, presynaptic membrane, neuromuscular junction, synaptic vesicle membrane, integral component of synaptic vesicle membrane, synaptic vesicle, GO:0043621, GO:0042802, GO:0042169, GO:0017075, GO:0015485, GO:0005515, protein self-association, identical protein binding, SH2 domain binding, syntaxin-1 binding, cholesterol binding, protein binding, GO:2000474, GO:0071310, GO:0048499, GO:0048488, GO:0048172, GO:0048169, GO:0048168, GO:0016188, GO:0006897, regulation of opioid receptor signaling pathway, cellular response to organic substance, synaptic vesicle membrane organization, synaptic vesicle endocytosis, regulation of short-term neuronal synaptic plasticity, regulation of long-term neuronal synaptic plasticity, regulation of neuronal synaptic plasticity, synaptic vesicle maturation, endocytosis, 13 25 23 5 24 10 10 14 8 ENSG00000102007 chrX 49171926 49175239 + PLP2 protein_coding This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked cognitive disability. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Jan 2010]. 5355 GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005783, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0019956, GO:0015075, GO:0005515, chemokine binding, ion transmembrane transporter activity, protein binding, GO:0034220, GO:0019221, GO:0006935, GO:0006811, ion transmembrane transport, cytokine-mediated signaling pathway, chemotaxis, ion transport, 501 597 940 335 592 562 301 525 573 ENSG00000102010 chrX 15464246 15556529 + BMX protein_coding This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]. 660 GO:0032587, GO:0005886, GO:0005829, GO:0005654, ruffle membrane, plasma membrane, cytosol, nucleoplasm, GO:0046872, GO:0005524, GO:0005515, GO:0004715, GO:0004715, GO:0004715, GO:0004713, metal ion binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0050853, GO:0046777, GO:0038083, GO:0035556, GO:0007498, GO:0007165, GO:0007155, GO:0006915, GO:0006661, GO:0006468, GO:0002250, B cell receptor signaling pathway, protein autophosphorylation, peptidyl-tyrosine autophosphorylation, intracellular signal transduction, mesoderm development, signal transduction, cell adhesion, apoptotic process, phosphatidylinositol biosynthetic process, protein phosphorylation, adaptive immune response, 120 95 133 55 58 80 66 53 79 ENSG00000102021 chrX 115289727 115307556 + LUZP4 protein_coding This gene encodes a leucine-zipper protein that was first defined as a cancer testis antigens. The encoded protein is an RNA binding protein that interacts with the mRNA export receptor nuclear RNA export factor 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 51213 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0051028, mRNA transport, 0 0 0 0 0 0 0 0 0 ENSG00000102024 chrX 115561174 115650861 + PLS3 protein_coding Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]. 5358 GO:0032432, GO:0005886, GO:0005884, GO:0005829, GO:0005737, actin filament bundle, plasma membrane, actin filament, cytosol, cytoplasm, GO:0051015, GO:0005509, actin filament binding, calcium ion binding, GO:0060348, GO:0051639, GO:0051017, bone development, actin filament network formation, actin filament bundle assembly, 1 0 1 3 1 0 5 0 0 ENSG00000102030 chrX 153929242 153935223 - NAA10 protein_coding N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 8260 GO:0031415, GO:0031415, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005634, NatA complex, NatA complex, membrane, cytosol, cytoplasm, nucleolus, nucleus, GO:1990190, GO:1990189, GO:0043022, GO:0016407, GO:0008080, GO:0005515, GO:0004596, GO:0004596, peptide-glutamate-N-acetyltransferase activity, peptide-serine-N-acetyltransferase activity, ribosome binding, acetyltransferase activity, N-acetyltransferase activity, protein binding, peptide alpha-N-acetyltransferase activity, peptide alpha-N-acetyltransferase activity, GO:2000719, GO:0018002, GO:0017198, GO:0006475, GO:0006474, GO:0006473, GO:0006323, negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric, N-terminal peptidyl-glutamic acid acetylation, N-terminal peptidyl-serine acetylation, internal protein amino acid acetylation, N-terminal protein amino acid acetylation, protein acetylation, DNA packaging, 128 143 163 346 370 386 341 265 192 ENSG00000102032 chrX 153935263 153944691 - RENBP protein_coding The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]. 5973 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0050121, GO:0050121, GO:0042802, GO:0030414, GO:0005524, GO:0005515, GO:0004866, N-acylglucosamine 2-epimerase activity, N-acylglucosamine 2-epimerase activity, identical protein binding, peptidase inhibitor activity, ATP binding, protein binding, endopeptidase inhibitor activity, GO:0019262, GO:0019262, GO:0010951, GO:0008217, GO:0006051, GO:0006048, GO:0006044, GO:0005975, N-acetylneuraminate catabolic process, N-acetylneuraminate catabolic process, negative regulation of endopeptidase activity, regulation of blood pressure, N-acetylmannosamine metabolic process, UDP-N-acetylglucosamine biosynthetic process, N-acetylglucosamine metabolic process, carbohydrate metabolic process, 322 436 358 230 419 317 270 317 218 ENSG00000102034 chrX 130064874 130110716 - ELF4 protein_coding The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]. 2000 GO:0016605, GO:0016604, GO:0005654, GO:0005634, GO:0000785, PML body, nuclear body, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045893, GO:0045087, GO:0030154, GO:0006357, GO:0001866, GO:0001787, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, innate immune response, cell differentiation, regulation of transcription by RNA polymerase II, NK T cell proliferation, natural killer cell proliferation, 3717 2367 4705 1287 1226 1440 1363 1056 1149 ENSG00000102038 chrX 129446501 129523500 - SMARCA1 protein_coding This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 6594 GO:0090537, GO:0043231, GO:0016589, GO:0005654, GO:0005634, GO:0005634, CERF complex, intracellular membrane-bounded organelle, NURF complex, nucleoplasm, nucleus, nucleus, GO:0070615, GO:0036310, GO:0031491, GO:0008134, GO:0008094, GO:0005524, GO:0005515, GO:0004386, GO:0003677, nucleosome-dependent ATPase activity, annealing helicase activity, nucleosome binding, transcription factor binding, DNA-dependent ATPase activity, ATP binding, protein binding, helicase activity, DNA binding, GO:0045944, GO:0045893, GO:0043044, GO:0030182, GO:0007420, GO:0006338, GO:0000733, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, ATP-dependent chromatin remodeling, neuron differentiation, brain development, chromatin remodeling, DNA strand renaturation, 0 0 2 4 0 1 1 0 2 ENSG00000102043 chrX 64268081 64395431 - MTMR8 protein_coding This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]. 55613 GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005635, GO:0005635, membrane, cytosol, cytoplasm, cytoplasm, nuclear envelope, nuclear envelope, GO:0106018, GO:0052629, GO:0005515, GO:0004725, GO:0004438, phosphatidylinositol-3,5-bisphosphate phosphatase activity, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:0046856, GO:0035335, GO:0016241, GO:0010507, GO:0006661, phosphatidylinositol dephosphorylation, peptidyl-tyrosine dephosphorylation, regulation of macroautophagy, negative regulation of autophagy, phosphatidylinositol biosynthetic process, 1 0 3 5 7 2 10 2 3 ENSG00000102048 chrX 15235288 15270467 - ASB9 protein_coding This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 140462 GO:0005829, GO:0005739, cytosol, mitochondrion, GO:0005515, protein binding, GO:0045732, GO:0045732, GO:0043687, GO:0035556, GO:0016567, GO:0016567, GO:0016567, positive regulation of protein catabolic process, positive regulation of protein catabolic process, post-translational protein modification, intracellular signal transduction, protein ubiquitination, protein ubiquitination, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000102053 chrX 65366638 65507887 + ZC3H12B protein_coding The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [provided by RefSeq, May 2010]. 340554 GO:0036464, GO:0005634, cytoplasmic ribonucleoprotein granule, nucleus, GO:0046872, GO:0004521, GO:0003729, metal ion binding, endoribonuclease activity, mRNA binding, GO:0090502, RNA phosphodiester bond hydrolysis, endonucleolytic, 2 3 2 17 3 9 8 0 4 ENSG00000102054 chrX 16839283 16870414 - RBBP7 protein_coding This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 5931 GO:0035098, GO:0016581, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, ESC/E(Z) complex, NuRD complex, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:1901796, GO:0070370, GO:0070317, GO:0048545, GO:0045814, GO:0043687, GO:0034080, GO:0030308, GO:0006260, GO:0000122, regulation of signal transduction by p53 class mediator, cellular heat acclimation, negative regulation of G0 to G1 transition, response to steroid hormone, negative regulation of gene expression, epigenetic, post-translational protein modification, CENP-A containing nucleosome assembly, negative regulation of cell growth, DNA replication, negative regulation of transcription by RNA polymerase II, 266 267 303 333 325 397 333 238 258 ENSG00000102055 chrX 42777368 42778247 - PPP1R2C protein_coding 80316 GO:0005575, cellular_component, GO:0005515, GO:0004864, GO:0004864, protein binding, protein phosphatase inhibitor activity, protein phosphatase inhibitor activity, GO:0043666, GO:0032515, GO:0009966, regulation of phosphoprotein phosphatase activity, negative regulation of phosphoprotein phosphatase activity, regulation of signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000102057 chrX 48961378 48971569 - KCND1 protein_coding This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]. 3750 GO:0045211, GO:0043197, GO:0043025, GO:0016021, GO:0014069, GO:0008076, GO:0005886, GO:0005575, postsynaptic membrane, dendritic spine, neuronal cell body, integral component of membrane, postsynaptic density, voltage-gated potassium channel complex, plasma membrane, cellular_component, GO:0046872, GO:0005250, GO:0005249, metal ion binding, A-type (transient outward) potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0061337, GO:0051260, GO:0034765, potassium ion transmembrane transport, cardiac conduction, protein homooligomerization, regulation of ion transmembrane transport, 85 102 101 146 147 190 173 101 194 ENSG00000102076 chrX 154144224 154159032 + OPN1LW protein_coding This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]. 5956 GO:0097381, GO:0005887, GO:0001750, photoreceptor disc membrane, integral component of plasma membrane, photoreceptor outer segment, GO:0009881, GO:0008020, GO:0005515, photoreceptor activity, G protein-coupled photoreceptor activity, protein binding, GO:0071482, GO:0032467, GO:0018298, GO:0009584, GO:0007602, GO:0007601, GO:0007186, GO:0007186, GO:0007165, GO:0001523, cellular response to light stimulus, positive regulation of cytokinesis, protein-chromophore linkage, detection of visible light, phototransduction, visual perception, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, retinoid metabolic process, 1 0 0 1 0 0 0 0 0 ENSG00000102078 chrX 130339888 130373361 + SLC25A14 protein_coding Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]. 9016 GO:0005887, GO:0005743, GO:0005739, integral component of plasma membrane, mitochondrial inner membrane, mitochondrion, GO:0015297, GO:0015141, GO:0015140, GO:0015131, GO:0015117, GO:0015116, antiporter activity, succinate transmembrane transporter activity, malate transmembrane transporter activity, oxaloacetate transmembrane transporter activity, thiosulfate transmembrane transporter activity, sulfate transmembrane transporter activity, GO:1902600, GO:1902358, GO:1902356, GO:0071423, GO:0071422, GO:0035435, GO:0015729, GO:0015709, GO:0009060, GO:0008272, GO:0006839, proton transmembrane transport, sulfate transmembrane transport, oxaloacetate(2-) transmembrane transport, malate transmembrane transport, succinate transmembrane transport, phosphate ion transmembrane transport, oxaloacetate transport, thiosulfate transport, aerobic respiration, sulfate transport, mitochondrial transport, 82 80 93 113 139 129 99 100 90 ENSG00000102081 chrX 147911951 147951125 + FMR1 protein_coding The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]. 2332 GO:1990904, GO:1990812, GO:1990124, GO:1902737, GO:1902737, GO:0098794, GO:0098793, GO:0098793, GO:0097386, GO:0071598, GO:0048471, GO:0045211, GO:0045202, GO:0044326, GO:0043679, GO:0043204, GO:0043204, GO:0043197, GO:0043197, GO:0043025, GO:0043005, GO:0042995, GO:0042788, GO:0042734, GO:0036464, GO:0036464, GO:0032797, GO:0032433, GO:0030426, GO:0030426, GO:0030425, GO:0030424, GO:0030424, GO:0019897, GO:0016020, GO:0016020, GO:0015030, GO:0014069, GO:0014069, GO:0010494, GO:0010369, GO:0005845, GO:0005844, GO:0005844, GO:0005844, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005694, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000775, ribonucleoprotein complex, growth cone filopodium, messenger ribonucleoprotein complex, dendritic filopodium, dendritic filopodium, postsynapse, presynapse, presynapse, glial cell projection, neuronal ribonucleoprotein granule, perinuclear region of cytoplasm, postsynaptic membrane, synapse, dendritic spine neck, axon terminus, perikaryon, perikaryon, dendritic spine, dendritic spine, neuronal cell body, neuron projection, cell projection, polysomal ribosome, presynaptic membrane, cytoplasmic ribonucleoprotein granule, cytoplasmic ribonucleoprotein granule, SMN complex, filopodium tip, growth cone, growth cone, dendrite, axon, axon, extrinsic component of plasma membrane, membrane, membrane, Cajal body, postsynaptic density, postsynaptic density, cytoplasmic stress granule, chromocenter, mRNA cap binding complex, polysome, polysome, polysome, cytosol, cytoplasm, cytoplasm, nucleolus, nucleolus, chromosome, nucleoplasm, nucleus, nucleus, nucleus, chromosome, centromeric region, GO:1990825, GO:0070840, GO:0048027, GO:0046982, GO:0045182, GO:0044325, GO:0043022, GO:0042803, GO:0042803, GO:0042802, GO:0042802, GO:0035613, GO:0035198, GO:0035197, GO:0035064, GO:0034046, GO:0033592, GO:0031369, GO:0030371, GO:0008266, GO:0008017, GO:0005515, GO:0003730, GO:0003730, GO:0003729, GO:0003723, GO:0003723, GO:0003723, GO:0003682, GO:0002151, sequence-specific mRNA binding, dynein complex binding, mRNA 5'-UTR binding, protein heterodimerization activity, translation regulator activity, ion channel binding, ribosome binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, identical protein binding, RNA stem-loop binding, miRNA binding, siRNA binding, methylated histone binding, poly(G) binding, RNA strand annealing activity, translation initiation factor binding, translation repressor activity, poly(U) RNA binding, microtubule binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, RNA binding, RNA binding, chromatin binding, G-quadruplex RNA binding, GO:2001022, GO:2001022, GO:2000766, GO:2000637, GO:2000301, GO:1902416, GO:1902373, GO:1901800, GO:1901386, GO:1901254, GO:1900453, GO:0098908, GO:0098586, GO:0072711, GO:0060999, GO:0060998, GO:0060964, GO:0051491, GO:0051489, GO:0051489, GO:0051028, GO:0046928, GO:0045947, GO:0045727, GO:0045727, GO:0044830, GO:0043488, GO:0043488, GO:0034644, GO:0033129, GO:0031047, GO:0017148, GO:0016032, GO:0008380, GO:0007215, GO:0006974, GO:0006397, GO:0002092, GO:0001934, GO:0000381, GO:0000381, positive regulation of response to DNA damage stimulus, positive regulation of response to DNA damage stimulus, negative regulation of cytoplasmic translation, positive regulation of gene silencing by miRNA, negative regulation of synaptic vesicle exocytosis, positive regulation of mRNA binding, negative regulation of mRNA catabolic process, positive regulation of proteasomal protein catabolic process, negative regulation of voltage-gated calcium channel activity, positive regulation of intracellular transport of viral material, negative regulation of long-term synaptic depression, regulation of neuronal action potential, cellular response to virus, cellular response to hydroxyurea, positive regulation of dendritic spine development, regulation of dendritic spine development, regulation of gene silencing by miRNA, positive regulation of filopodium assembly, regulation of filopodium assembly, regulation of filopodium assembly, mRNA transport, regulation of neurotransmitter secretion, negative regulation of translational initiation, positive regulation of translation, positive regulation of translation, modulation by host of viral RNA genome replication, regulation of mRNA stability, regulation of mRNA stability, cellular response to UV, positive regulation of histone phosphorylation, gene silencing by RNA, negative regulation of translation, viral process, RNA splicing, glutamate receptor signaling pathway, cellular response to DNA damage stimulus, mRNA processing, positive regulation of receptor internalization, positive regulation of protein phosphorylation, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 1302 1307 1571 1260 1540 1564 1541 1138 1114 ENSG00000102096 chrX 48913182 48919024 - PIM2 protein_coding This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009]. 11040 GO:0005737, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0050821, GO:0050821, GO:0046777, GO:0045893, GO:0043123, GO:0043066, GO:0043066, GO:0010508, GO:0009615, GO:0008285, GO:0007346, GO:0006915, GO:0006468, GO:0006468, GO:0000082, protein stabilization, protein stabilization, protein autophosphorylation, positive regulation of transcription, DNA-templated, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, negative regulation of apoptotic process, positive regulation of autophagy, response to virus, negative regulation of cell population proliferation, regulation of mitotic cell cycle, apoptotic process, protein phosphorylation, protein phosphorylation, G1/S transition of mitotic cell cycle, 603 1012 2234 582 859 836 636 709 962 ENSG00000102098 chrX 18239314 18354727 - SCML2 protein_coding This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010]. 10389 GO:0031519, GO:0005634, GO:0005634, PcG protein complex, nucleus, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0045892, GO:0009653, negative regulation of transcription, DNA-templated, anatomical structure morphogenesis, 0 0 3 0 0 1 5 0 10 ENSG00000102100 chrX 48903180 48911958 - SLC35A2 protein_coding This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. 7355 GO:0030173, GO:0005794, GO:0005783, GO:0005654, GO:0000139, integral component of Golgi membrane, Golgi apparatus, endoplasmic reticulum, nucleoplasm, Golgi membrane, GO:0005459, GO:0005459, UDP-galactose transmembrane transporter activity, UDP-galactose transmembrane transporter activity, GO:0072334, GO:0008643, GO:0006012, UDP-galactose transmembrane transport, carbohydrate transport, galactose metabolic process, 232 323 368 331 408 569 313 332 427 ENSG00000102103 chrX 48897912 48903143 + PQBP1 protein_coding This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]. 10084 GO:0071598, GO:0016607, GO:0016607, GO:0016604, GO:0010494, GO:0005829, GO:0005737, GO:0005654, GO:0005634, neuronal ribonucleoprotein granule, nuclear speck, nuclear speck, nuclear body, cytoplasmic stress granule, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0043021, GO:0043021, GO:0005515, GO:0003713, GO:0003690, GO:0003677, ribonucleoprotein complex binding, ribonucleoprotein complex binding, protein binding, transcription coactivator activity, double-stranded DNA binding, DNA binding, GO:1903508, GO:0071360, GO:0051607, GO:0048814, GO:0045087, GO:0043484, GO:0043484, GO:0032481, GO:0031175, GO:0006355, GO:0002230, GO:0002218, GO:0000398, GO:0000380, positive regulation of nucleic acid-templated transcription, cellular response to exogenous dsRNA, defense response to virus, regulation of dendrite morphogenesis, innate immune response, regulation of RNA splicing, regulation of RNA splicing, positive regulation of type I interferon production, neuron projection development, regulation of transcription, DNA-templated, positive regulation of defense response to virus by host, activation of innate immune response, mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 175 193 263 227 287 298 191 180 224 ENSG00000102104 chrX 18639910 18672109 - RS1 protein_coding This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]. 6247 GO:0098984, GO:0019897, GO:0005615, GO:0001917, neuron to neuron synapse, extrinsic component of plasma membrane, extracellular space, photoreceptor inner segment, GO:0005543, GO:0001786, phospholipid binding, phosphatidylserine binding, GO:0051260, GO:0050896, GO:0007601, GO:0007275, GO:0007155, protein homooligomerization, response to stimulus, visual perception, multicellular organism development, cell adhesion, 0 2 0 1 0 0 0 0 0 ENSG00000102109 chrX 48831094 48835633 - PCSK1N protein_coding The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013]. 27344 GO:0030141, GO:0005802, GO:0005615, secretory granule, trans-Golgi network, extracellular space, GO:0005102, GO:0004867, GO:0004866, signaling receptor binding, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0016486, GO:0010951, GO:0009409, GO:0007218, GO:0002021, peptide hormone processing, negative regulation of endopeptidase activity, response to cold, neuropeptide signaling pathway, response to dietary excess, 2 0 7 8 0 2 0 1 12 ENSG00000102119 chrX 154379197 154381523 + EMD protein_coding Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]. 2010 GO:0032541, GO:0031965, GO:0031616, GO:0016021, GO:0016020, GO:0005874, GO:0005819, GO:0005783, GO:0005737, GO:0005654, GO:0005640, GO:0005637, GO:0005637, GO:0005637, GO:0005635, GO:0005635, GO:0005635, cortical endoplasmic reticulum, nuclear membrane, spindle pole centrosome, integral component of membrane, membrane, microtubule, spindle, endoplasmic reticulum, cytoplasm, nucleoplasm, nuclear outer membrane, nuclear inner membrane, nuclear inner membrane, nuclear inner membrane, nuclear envelope, nuclear envelope, nuclear envelope, GO:0048487, GO:0048487, GO:0045296, GO:0005515, GO:0003779, GO:0003779, beta-tubulin binding, beta-tubulin binding, cadherin binding, protein binding, actin binding, actin binding, GO:0090090, GO:0090090, GO:0071763, GO:0071363, GO:0060828, GO:0048147, GO:0046827, GO:0035914, GO:0007517, GO:0007084, GO:0006936, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, nuclear membrane organization, cellular response to growth factor stimulus, regulation of canonical Wnt signaling pathway, negative regulation of fibroblast proliferation, positive regulation of protein export from nucleus, skeletal muscle cell differentiation, muscle organ development, mitotic nuclear envelope reassembly, muscle contraction, 1093 1251 1183 3778 4561 4379 3347 3123 3165 ENSG00000102125 chrX 154411518 154421726 + TAZ protein_coding This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]. 6901 GO:0031966, GO:0016021, GO:0005743, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0047184, GO:0047184, GO:0047184, GO:0008374, GO:0008374, GO:0003841, 1-acylglycerophosphocholine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, O-acyltransferase activity, O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:2001171, GO:1900210, GO:0060048, GO:0048738, GO:0042775, GO:0042407, GO:0035965, GO:0035965, GO:0032981, GO:0032049, GO:0030097, GO:0007519, GO:0007507, GO:0007007, GO:0006936, positive regulation of ATP biosynthetic process, positive regulation of cardiolipin metabolic process, cardiac muscle contraction, cardiac muscle tissue development, mitochondrial ATP synthesis coupled electron transport, cristae formation, cardiolipin acyl-chain remodeling, cardiolipin acyl-chain remodeling, mitochondrial respiratory chain complex I assembly, cardiolipin biosynthetic process, hemopoiesis, skeletal muscle tissue development, heart development, inner mitochondrial membrane organization, muscle contraction, 200 267 266 346 307 330 271 253 293 ENSG00000102128 chrX 102937272 102938300 + RAB40AL protein_coding This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]. 282808 GO:0008021, GO:0005886, GO:0005768, GO:0005739, GO:0005737, synaptic vesicle, plasma membrane, endosome, mitochondrion, cytoplasm, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0072659, GO:0035556, GO:0016567, protein localization to plasma membrane, intracellular signal transduction, protein ubiquitination, 0 0 1 0 0 0 0 0 0 ENSG00000102144 chrX 77910739 78129296 + PGK1 protein_coding The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]. 5230 GO:0070062, GO:0045121, GO:0016020, GO:0005829, GO:0005829, GO:0005615, extracellular exosome, membrane raft, membrane, cytosol, cytosol, extracellular space, GO:0047134, GO:0043531, GO:0005524, GO:0005524, GO:0005515, GO:0004618, GO:0004618, GO:0004618, protein-disulfide reductase activity, ADP binding, ATP binding, ATP binding, protein binding, phosphoglycerate kinase activity, phosphoglycerate kinase activity, phosphoglycerate kinase activity, GO:1903862, GO:0071456, GO:0061621, GO:0031639, GO:0030855, GO:0016525, GO:0016310, GO:0006096, GO:0006096, GO:0006094, GO:0006094, positive regulation of oxidative phosphorylation, cellular response to hypoxia, canonical glycolysis, plasminogen activation, epithelial cell differentiation, negative regulation of angiogenesis, phosphorylation, glycolytic process, glycolytic process, gluconeogenesis, gluconeogenesis, 5940 5286 7058 1981 3165 2745 2286 2755 2485 ENSG00000102145 chrX 48786554 48794311 + GATA1 protein_coding This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]. 2623 GO:0032993, GO:0017053, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, protein-DNA complex, transcription repressor complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0070742, GO:0043565, GO:0031490, GO:0008270, GO:0005515, GO:0003700, GO:0003677, GO:0002039, GO:0001228, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, C2H2 zinc finger domain binding, sequence-specific DNA binding, chromatin DNA binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA binding, p53 binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001240, GO:2000678, GO:1902036, GO:0097067, GO:0097028, GO:0071733, GO:0070527, GO:0050731, GO:0048873, GO:0048821, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045652, GO:0045648, GO:0045165, GO:0043066, GO:0035854, GO:0035162, GO:0033690, GO:0030502, GO:0030222, GO:0030221, GO:0030220, GO:0030219, GO:0030218, GO:0010725, GO:0010724, GO:0010559, GO:0008584, GO:0008285, GO:0007596, GO:0007267, GO:0001701, GO:0000122, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of transcription regulatory region DNA binding, regulation of hematopoietic stem cell differentiation, cellular response to thyroid hormone stimulus, dendritic cell differentiation, transcriptional activation by promoter-enhancer looping, platelet aggregation, positive regulation of peptidyl-tyrosine phosphorylation, homeostasis of number of cells within a tissue, erythrocyte development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, positive regulation of erythrocyte differentiation, cell fate commitment, negative regulation of apoptotic process, eosinophil fate commitment, embryonic hemopoiesis, positive regulation of osteoblast proliferation, negative regulation of bone mineralization, eosinophil differentiation, basophil differentiation, platelet formation, megakaryocyte differentiation, erythrocyte differentiation, regulation of primitive erythrocyte differentiation, regulation of definitive erythrocyte differentiation, regulation of glycoprotein biosynthetic process, male gonad development, negative regulation of cell population proliferation, blood coagulation, cell-cell signaling, in utero embryonic development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 13 25 36 0 2 0 3 0 0 ENSG00000102158 chrX 77826364 77895593 - MAGT1 protein_coding This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jul 2017]. 84061 GO:0035577, GO:0016020, GO:0008250, GO:0008250, GO:0005887, GO:0005886, GO:0005783, azurophil granule membrane, membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:0015095, GO:0015095, magnesium ion transmembrane transporter activity, magnesium ion transmembrane transporter activity, GO:1903830, GO:0055085, GO:0050890, GO:0043312, GO:0018279, GO:0018279, GO:0018279, GO:0015693, GO:0006487, GO:0006487, magnesium ion transmembrane transport, transmembrane transport, cognition, neutrophil degranulation, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, magnesium ion transport, protein N-linked glycosylation, protein N-linked glycosylation, 992 696 1301 252 287 301 257 222 198 ENSG00000102172 chrX 21940573 21994835 + SMS protein_coding This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 6611 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0016768, GO:0016768, spermine synthase activity, spermine synthase activity, GO:0006597, GO:0006597, GO:0006595, GO:0006555, spermine biosynthetic process, spermine biosynthetic process, polyamine metabolic process, methionine metabolic process, 253 310 410 164 305 227 200 244 189 ENSG00000102174 chrX 22032441 22251310 + PHEX protein_coding The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 5251 GO:0048471, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005783, perinuclear region of cytoplasm, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, GO:0008270, GO:0004222, GO:0004222, zinc ion binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:1990418, GO:1904383, GO:0071374, GO:0071305, GO:0060416, GO:0060348, GO:0042476, GO:0030324, GO:0030282, GO:0019637, GO:0016485, GO:0007267, GO:0006508, GO:0006464, GO:0001501, response to insulin-like growth factor stimulus, response to sodium phosphate, cellular response to parathyroid hormone stimulus, cellular response to vitamin D, response to growth hormone, bone development, odontogenesis, lung development, bone mineralization, organophosphate metabolic process, protein processing, cell-cell signaling, proteolysis, cellular protein modification process, skeletal system development, 6 11 10 9 7 10 9 11 1 ENSG00000102178 chrX 154483717 154486670 - UBL4A protein_coding 8266 GO:0071818, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005634, BAT3 complex, membrane, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0051087, GO:0019787, GO:0005515, chaperone binding, ubiquitin-like protein transferase activity, protein binding, GO:0071816, GO:0071816, GO:0006464, tail-anchored membrane protein insertion into ER membrane, tail-anchored membrane protein insertion into ER membrane, cellular protein modification process, 24 20 40 22 18 24 22 20 16 ENSG00000102181 chrX 150766337 150898816 - CD99L2 protein_coding This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 83692 GO:0016021, GO:0009986, GO:0005925, GO:0005912, GO:0005886, integral component of membrane, cell surface, focal adhesion, adherens junction, plasma membrane, GO:0005515, protein binding, GO:2000409, GO:2000391, GO:0050904, GO:0007155, positive regulation of T cell extravasation, positive regulation of neutrophil extravasation, diapedesis, cell adhesion, 39 34 62 51 30 32 29 34 37 ENSG00000102189 chr12 92770637 92929331 - EEA1 protein_coding 8411 GO:0070062, GO:0044308, GO:0031901, GO:0019897, GO:0016020, GO:0005969, GO:0005829, GO:0005769, GO:0005737, extracellular exosome, axonal spine, early endosome membrane, extrinsic component of plasma membrane, membrane, serine-pyruvate aminotransferase complex, cytosol, early endosome, cytoplasm, GO:0042803, GO:0030742, GO:0008270, GO:0005545, GO:0005516, GO:0005515, protein homodimerization activity, GTP-dependent protein binding, zinc ion binding, 1-phosphatidylinositol binding, calmodulin binding, protein binding, GO:0045022, GO:0039694, GO:0016189, GO:0006906, GO:0006897, early endosome to late endosome transport, viral RNA genome replication, synaptic vesicle to endosome fusion, vesicle fusion, endocytosis, 124 99 124 106 88 112 109 72 154 ENSG00000102195 chrX 151176653 151181465 + GPR50 protein_coding This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010]. 9248 GO:0005887, GO:0005886, GO:0005886, GO:0005654, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0042802, GO:0008502, GO:0005515, GO:0004930, identical protein binding, melatonin receptor activity, protein binding, G protein-coupled receptor activity, GO:0007267, GO:0007186, cell-cell signaling, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000102218 chrX 46836940 46882358 + RP2 protein_coding The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]. 6102 GO:1990075, GO:0070062, GO:0036064, GO:0031410, GO:0016604, GO:0005929, GO:0005929, GO:0005886, GO:0005814, GO:0005794, GO:0005737, GO:0005654, periciliary membrane compartment, extracellular exosome, ciliary basal body, cytoplasmic vesicle, nuclear body, cilium, cilium, plasma membrane, centriole, Golgi apparatus, cytoplasm, nucleoplasm, GO:0051082, GO:0005525, GO:0005515, GO:0005096, GO:0005096, GO:0005096, GO:0000287, unfolded protein binding, GTP binding, protein binding, GTPase activator activity, GTPase activator activity, GTPase activator activity, magnesium ion binding, GO:0043547, GO:0015031, GO:0007601, GO:0007023, GO:0006892, GO:0006892, GO:0006892, GO:0006457, GO:0000902, positive regulation of GTPase activity, protein transport, visual perception, post-chaperonin tubulin folding pathway, post-Golgi vesicle-mediated transport, post-Golgi vesicle-mediated transport, post-Golgi vesicle-mediated transport, protein folding, cell morphogenesis, 1646 1394 2339 477 848 952 646 794 837 ENSG00000102221 chrX 46912276 47061242 + JADE3 protein_coding This gene encodes a member of a family of large proteins containing PHD (plant homeo domain)-type zinc fingers. The encoded protein may be associated in a nuclear complex that functions in histone H4 acetylation. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]. 9767 GO:0000123, GO:0000123, histone acetyltransferase complex, histone acetyltransferase complex, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0043984, GO:0043983, GO:0043982, GO:0043982, GO:0043981, GO:0043981, GO:0043966, GO:0043966, histone H4-K16 acetylation, histone H4-K12 acetylation, histone H4-K8 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H4-K5 acetylation, histone H3 acetylation, histone H3 acetylation, 5 2 7 4 3 0 3 4 0 ENSG00000102225 chrX 47217860 47229997 + CDK16 protein_coding The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009]. 5127 GO:0043005, GO:0031234, GO:0015630, GO:0008021, GO:0008021, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, neuron projection, extrinsic component of cytoplasmic side of plasma membrane, microtubule cytoskeleton, synaptic vesicle, synaptic vesicle, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0004693, GO:0004674, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0061178, GO:0051726, GO:0031175, GO:0031175, GO:0030252, GO:0007283, GO:0006887, GO:0006887, GO:0006468, GO:0000083, regulation of insulin secretion involved in cellular response to glucose stimulus, regulation of cell cycle, neuron projection development, neuron projection development, growth hormone secretion, spermatogenesis, exocytosis, exocytosis, protein phosphorylation, regulation of transcription involved in G1/S transition of mitotic cell cycle, 1058 1148 1402 867 1279 1610 875 861 1257 ENSG00000102226 chrX 47232690 47248328 + USP11 protein_coding Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008]. 8237 GO:0005829, GO:0005829, GO:0005694, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, chromosome, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0004843, GO:0004197, GO:0001226, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, RNA polymerase II transcription corepressor binding, GO:0016579, GO:0016579, GO:0016032, GO:0006511, protein deubiquitination, protein deubiquitination, viral process, ubiquitin-dependent protein catabolic process, 113 72 173 141 94 168 101 68 109 ENSG00000102230 chrX 24558087 24672677 - PCYT1B protein_coding The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 9468 GO:0005789, GO:0005783, GO:0005737, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, GO:0031210, GO:0004105, GO:0004105, phosphatidylcholine binding, choline-phosphate cytidylyltransferase activity, choline-phosphate cytidylyltransferase activity, GO:0007283, GO:0006657, GO:0006656, GO:0006656, GO:0001541, spermatogenesis, CDP-choline pathway, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, ovarian follicle development, 0 0 1 3 0 0 0 0 0 ENSG00000102239 chrX 136487887 136493780 + BRS3 protein_coding The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011]. 680 GO:0043025, GO:0043005, GO:0016021, GO:0005887, GO:0005886, neuronal cell body, neuron projection, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0004946, GO:0004930, bombesin receptor activity, G protein-coupled receptor activity, GO:0031989, GO:0008343, GO:0008217, GO:0007186, GO:0006006, bombesin receptor signaling pathway, adult feeding behavior, regulation of blood pressure, G protein-coupled receptor signaling pathway, glucose metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000102241 chrX 136497079 136512346 + HTATSF1 protein_coding The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcription and splicing and to facilitate their reciprocal activation. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Sep 2009]. 27336 GO:0005686, GO:0005684, GO:0005654, GO:0005634, U2 snRNP, U2-type spliceosomal complex, nucleoplasm, nucleus, GO:0003723, GO:0003723, RNA binding, RNA binding, GO:0032784, GO:0019079, GO:0006357, GO:0000398, regulation of DNA-templated transcription, elongation, viral genome replication, regulation of transcription by RNA polymerase II, mRNA splicing, via spliceosome, 141 130 160 198 127 176 188 119 154 ENSG00000102243 chrX 136532152 136556807 + VGLL1 protein_coding The protein encoded by this gene binds proteins of the TEA domain family of transcription factors (TEFs) through the Vg (vestigial) homology region found in its N-terminus. It may thus function as a specific coactivator for the mammalian TEFs. [provided by RefSeq, Sep 2009]. 51442 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:1903508, GO:0006357, GO:0006355, positive regulation of nucleic acid-templated transcription, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000102245 chrX 136648193 136660390 + CD40LG protein_coding The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]. 959 GO:0016021, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005615, integral component of membrane, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, GO:0005515, GO:0005178, GO:0005174, GO:0005174, GO:0005174, GO:0005164, GO:0005125, protein binding, integrin binding, CD40 receptor binding, CD40 receptor binding, CD40 receptor binding, tumor necrosis factor receptor binding, cytokine activity, GO:2000353, GO:0051092, GO:0050776, GO:0045190, GO:0043066, GO:0042102, GO:0042100, GO:0033209, GO:0032753, GO:0032735, GO:0032733, GO:0031295, GO:0030183, GO:0030168, GO:0023035, GO:0007257, GO:0007229, GO:0007159, GO:0006954, GO:0002637, GO:0002377, positive regulation of endothelial cell apoptotic process, positive regulation of NF-kappaB transcription factor activity, regulation of immune response, isotype switching, negative regulation of apoptotic process, positive regulation of T cell proliferation, B cell proliferation, tumor necrosis factor-mediated signaling pathway, positive regulation of interleukin-4 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, T cell costimulation, B cell differentiation, platelet activation, CD40 signaling pathway, activation of JUN kinase activity, integrin-mediated signaling pathway, leukocyte cell-cell adhesion, inflammatory response, regulation of immunoglobulin production, immunoglobulin production, 25 15 45 91 32 78 79 37 66 ENSG00000102265 chrX 47582313 47586789 + TIMP1 protein_coding This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008]. 7076 GO:0070062, GO:0031093, GO:0031012, GO:0005788, GO:0005615, GO:0005615, GO:0005604, GO:0005576, GO:0005576, extracellular exosome, platelet alpha granule lumen, extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, basement membrane, extracellular region, extracellular region, GO:0030414, GO:0008270, GO:0008191, GO:0008191, GO:0008083, GO:0005515, GO:0005125, GO:0002020, peptidase inhibitor activity, zinc ion binding, metalloendopeptidase inhibitor activity, metalloendopeptidase inhibitor activity, growth factor activity, protein binding, cytokine activity, protease binding, GO:2001044, GO:1905049, GO:1901164, GO:0071492, GO:0051216, GO:0051045, GO:0051045, GO:0044267, GO:0043687, GO:0043434, GO:0043086, GO:0043066, GO:0034097, GO:0022617, GO:0019221, GO:0010951, GO:0010951, GO:0010033, GO:0009725, GO:0008284, GO:0007568, GO:0002576, GO:0002248, GO:0001775, regulation of integrin-mediated signaling pathway, negative regulation of metallopeptidase activity, negative regulation of trophoblast cell migration, cellular response to UV-A, cartilage development, negative regulation of membrane protein ectodomain proteolysis, negative regulation of membrane protein ectodomain proteolysis, cellular protein metabolic process, post-translational protein modification, response to peptide hormone, negative regulation of catalytic activity, negative regulation of apoptotic process, response to cytokine, extracellular matrix disassembly, cytokine-mediated signaling pathway, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, response to organic substance, response to hormone, positive regulation of cell population proliferation, aging, platelet degranulation, connective tissue replacement involved in inflammatory response wound healing, cell activation, 201 477 630 167 496 289 235 421 339 ENSG00000102271 chrX 87517749 87670050 + KLHL4 protein_coding This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 56062 GO:0034451, GO:0015630, GO:0005737, centriolar satellite, microtubule cytoskeleton, cytoplasm, GO:0003779, GO:0003674, actin binding, molecular_function, GO:0008150, biological_process, 1 0 2 0 0 4 0 0 1 ENSG00000102287 chrX 151953124 151974680 - GABRE protein_coding The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]. 2564 GO:1902711, GO:1902711, GO:0098794, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0005887, GABA-A receptor complex, GABA-A receptor complex, postsynapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, dendrite membrane, integral component of plasma membrane, GO:1904315, GO:0030594, GO:0022851, GO:0022851, GO:0008503, GO:0005254, GO:0005237, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:2001226, GO:1902476, GO:0060078, GO:0051932, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007214, GO:0007165, negative regulation of chloride transport, chloride transmembrane transport, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 1 0 ENSG00000102290 chrX 91779261 92623230 + PCDH11X protein_coding This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 27328 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005509, calcium ion binding, GO:0010923, GO:0007156, GO:0007155, negative regulation of phosphatase activity, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000102302 chrX 54445454 54496166 - FGD1 protein_coding This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]. 2245 GO:0030027, GO:0005856, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0001726, lamellipodium, cytoskeleton, cytosol, Golgi apparatus, cytoplasm, cytoplasm, ruffle, GO:0046872, GO:0031267, GO:0005085, GO:0005085, metal ion binding, small GTPase binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0046847, GO:0046847, GO:0043087, GO:0043065, GO:0030036, GO:0009887, GO:0008360, GO:0007275, GO:0007186, GO:0007165, GO:0007010, GO:0007010, regulation of small GTPase mediated signal transduction, filopodium assembly, filopodium assembly, regulation of GTPase activity, positive regulation of apoptotic process, actin cytoskeleton organization, animal organ morphogenesis, regulation of cell shape, multicellular organism development, G protein-coupled receptor signaling pathway, signal transduction, cytoskeleton organization, cytoskeleton organization, 7 4 6 5 10 10 13 4 3 ENSG00000102309 chrX 72181353 72302926 + PIN4 protein_coding This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009]. 5303 GO:0005819, GO:0005759, GO:0005730, GO:0005654, spindle, mitochondrial matrix, nucleolus, nucleoplasm, GO:0005515, GO:0003755, GO:0003723, GO:0003677, protein binding, peptidyl-prolyl cis-trans isomerase activity, RNA binding, DNA binding, GO:0006364, GO:0000413, rRNA processing, protein peptidyl-prolyl isomerization, 24 17 14 30 15 31 29 29 15 ENSG00000102312 chrX 48508962 48520814 + PORCN protein_coding This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013]. 64840 GO:0032281, GO:0030176, GO:0016020, GO:0005789, GO:0005783, GO:0005783, AMPA glutamate receptor complex, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:1990698, GO:1990698, GO:0017147, GO:0016746, palmitoleoyltransferase activity, palmitoleoyltransferase activity, Wnt-protein binding, transferase activity, transferring acyl groups, GO:0061355, GO:0060070, GO:0045234, GO:0030258, GO:0018345, GO:0016055, GO:0009100, GO:0006497, Wnt protein secretion, canonical Wnt signaling pathway, protein palmitoleylation, lipid modification, protein palmitoylation, Wnt signaling pathway, glycoprotein metabolic process, protein lipidation, 13 8 32 35 17 7 12 4 20 ENSG00000102313 chrX 54748899 54798240 - ITIH6 protein_coding The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]. 347365 GO:0005576, extracellular region, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0030212, GO:0010951, hyaluronan metabolic process, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000102316 chrX 54807599 54816012 + MAGED2 protein_coding This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. 10916 GO:0031093, GO:0016020, GO:0005829, GO:0005730, GO:0005654, GO:0005576, platelet alpha granule lumen, membrane, cytosol, nucleolus, nucleoplasm, extracellular region, GO:0005515, protein binding, GO:0070294, GO:0007565, GO:0002576, renal sodium ion absorption, female pregnancy, platelet degranulation, 79 80 132 116 83 101 123 64 128 ENSG00000102317 chrX 48574449 48579066 + RBM3 protein_coding This gene is a member of the glycine-rich RNA-binding protein family and encodes a protein with one RNA recognition motif (RRM) domain. Expression of this gene is induced by cold shock and low oxygen tension. A pseudogene exists on chromosome 1. Multiple alternatively spliced transcript variants that are predicted to encode different isoforms have been characterized although some of these variants fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2008]. 5935 GO:0030425, GO:0015934, GO:0015934, GO:0005737, GO:0005681, GO:0005654, GO:0005634, dendrite, large ribosomal subunit, large ribosomal subunit, cytoplasm, spliceosomal complex, nucleoplasm, nucleus, GO:0043023, GO:0005515, GO:0003723, ribosomal large subunit binding, protein binding, RNA binding, GO:0048026, GO:0045727, GO:0006417, GO:0006417, GO:0006396, positive regulation of mRNA splicing, via spliceosome, positive regulation of translation, regulation of translation, regulation of translation, RNA processing, 829 887 984 1191 1239 1561 943 870 1111 ENSG00000102349 chrX 56232421 56287889 + KLF8 protein_coding This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 11279 GO:0016235, GO:0005829, GO:0005654, GO:0000785, GO:0000785, aggresome, cytosol, nucleoplasm, chromatin, chromatin, GO:0046872, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 10 0 12 21 13 17 17 4 19 ENSG00000102359 chrX 100644166 100675788 + SRPX2 protein_coding This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]. 27286 GO:0097060, GO:0062023, GO:0060076, GO:0009986, GO:0005737, GO:0005615, synaptic membrane, collagen-containing extracellular matrix, excitatory synapse, cell surface, cytoplasm, extracellular space, GO:0042802, GO:0036458, GO:0005515, GO:0005201, GO:0005102, identical protein binding, hepatocyte growth factor binding, protein binding, extracellular matrix structural constituent, signaling receptor binding, GO:0098609, GO:0090050, GO:0071625, GO:0051965, GO:0048870, GO:0042325, GO:0001525, cell-cell adhesion, positive regulation of cell migration involved in sprouting angiogenesis, vocalization behavior, positive regulation of synapse assembly, cell motility, regulation of phosphorylation, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000102362 chrX 100674491 100732123 - SYTL4 protein_coding This gene encodes a member of the synaptotagmin like protein family. Members of this family are characterized by an N-terminal Rab27 binding domain and C-terminal tandem C2 domains. The encoded protein binds specific small Rab GTPases and is involved in intracellular membrane trafficking. This protein binds Rab27 and may be involved in inhibiting dense core vesicle exocytosis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Mar 2010]. 94121 GO:0070382, GO:0031092, GO:0030658, GO:0019898, GO:0005886, GO:0005886, GO:0005768, exocytic vesicle, platelet alpha granule membrane, transport vesicle membrane, extrinsic component of membrane, plasma membrane, plasma membrane, endosome, GO:0046872, GO:0042043, GO:0042043, GO:0031267, GO:0005543, GO:0005515, metal ion binding, neurexin family protein binding, neurexin family protein binding, small GTPase binding, phospholipid binding, protein binding, GO:1905684, GO:0071985, GO:0050714, GO:0046676, GO:0045921, GO:0032418, GO:0006887, GO:0006886, GO:0002576, GO:0001778, regulation of plasma membrane repair, multivesicular body sorting pathway, positive regulation of protein secretion, negative regulation of insulin secretion, positive regulation of exocytosis, lysosome localization, exocytosis, intracellular protein transport, platelet degranulation, plasma membrane repair, 0 1 0 0 0 0 0 0 0 ENSG00000102383 chrX 75368427 75523502 - ZDHHC15 protein_coding The protein encoded by this gene belongs to the DHHC palmitoyltransferase family. Mutations in this gene are associated with mental retardatio X-linked type 91 (MRX91). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 158866 GO:0098794, GO:0030173, GO:0014069, GO:0005794, GO:0005794, GO:0005783, GO:0000139, postsynapse, integral component of Golgi membrane, postsynaptic density, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0019706, GO:0019706, GO:0016409, GO:0008270, GO:0005515, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, zinc ion binding, protein binding, GO:1900006, GO:0140450, GO:0072657, GO:0062237, GO:0061001, GO:0018345, GO:0018230, GO:0018230, GO:0016188, GO:0006612, positive regulation of dendrite development, protein targeting to Golgi apparatus, protein localization to membrane, protein localization to postsynapse, regulation of dendritic spine morphogenesis, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, synaptic vesicle maturation, protein targeting to membrane, 0 0 1 0 0 3 1 1 0 ENSG00000102384 chrX 101098218 101163681 + CENPI protein_coding This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016]. 2491 GO:0016604, GO:0016604, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0000776, GO:0000776, nuclear body, nuclear body, cytosol, cytosol, cytosol, nucleoplasm, kinetochore, kinetochore, GO:0005515, protein binding, GO:0034080, GO:0007548, CENP-A containing nucleosome assembly, sex differentiation, 0 0 1 3 0 3 0 0 0 ENSG00000102385 chrX 101219769 101264497 + DRP2 protein_coding Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 1821 GO:0098978, GO:0043204, GO:0030425, GO:0014069, GO:0005886, glutamatergic synapse, perikaryon, dendrite, postsynaptic density, plasma membrane, GO:0008270, zinc ion binding, GO:0099536, GO:0050808, GO:0007417, synaptic signaling, synapse organization, central nervous system development, 0 0 1 0 0 0 0 0 0 ENSG00000102387 chrX 101268253 101293057 - TAF7L protein_coding This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 54457 GO:0005737, GO:0005669, cytoplasm, transcription factor TFIID complex, GO:0016251, GO:0005515, GO:0003674, RNA polymerase II general transcription initiation factor activity, protein binding, molecular_function, GO:0051123, GO:0030154, GO:0008150, GO:0007283, GO:0007275, RNA polymerase II preinitiation complex assembly, cell differentiation, biological_process, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000102390 chrX 76172936 76178204 + PBDC1 protein_coding 51260 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 18 16 38 38 21 54 23 16 36 ENSG00000102393 chrX 101397803 101408012 - GLA protein_coding This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]. 2717 GO:0070062, GO:0043202, GO:0035578, GO:0005794, GO:0005764, GO:0005764, GO:0005737, GO:0005737, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, Golgi apparatus, lysosome, lysosome, cytoplasm, cytoplasm, extracellular region, extracellular region, extracellular region, GO:0052692, GO:0042803, GO:0017041, GO:0017041, GO:0016936, GO:0016787, GO:0005515, GO:0005102, GO:0004557, GO:0004557, GO:0004557, GO:0003824, raffinose alpha-galactosidase activity, protein homodimerization activity, galactosylgalactosylglucosylceramidase activity, galactosylgalactosylglucosylceramidase activity, galactoside binding, hydrolase activity, protein binding, signaling receptor binding, alpha-galactosidase activity, alpha-galactosidase activity, alpha-galactosidase activity, catalytic activity, GO:0051001, GO:0046479, GO:0046479, GO:0046479, GO:0046477, GO:0046477, GO:0045019, GO:0043312, GO:0016139, GO:0009311, GO:0009311, GO:0006687, negative regulation of nitric-oxide synthase activity, glycosphingolipid catabolic process, glycosphingolipid catabolic process, glycosphingolipid catabolic process, glycosylceramide catabolic process, glycosylceramide catabolic process, negative regulation of nitric oxide biosynthetic process, neutrophil degranulation, glycoside catabolic process, oligosaccharide metabolic process, oligosaccharide metabolic process, glycosphingolipid metabolic process, 539 1414 518 13021 22570 12908 13706 19485 10515 ENSG00000102401 chrX 101622797 101627843 + ARMCX3 protein_coding This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 51566 GO:0031307, GO:0005739, GO:0005634, integral component of mitochondrial outer membrane, mitochondrion, nucleus, GO:0005515, protein binding, GO:0045944, GO:0034613, GO:0034613, positive regulation of transcription by RNA polymerase II, cellular protein localization, cellular protein localization, 364 449 617 1263 1346 1497 1216 896 1106 ENSG00000102409 chrX 103215092 103217246 + BEX4 protein_coding This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]. 56271 GO:0005874, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000922, microtubule, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, spindle pole, GO:0043014, GO:0042826, GO:0005515, alpha-tubulin binding, histone deacetylase binding, protein binding, GO:1904428, GO:0042127, GO:0030334, GO:0007059, negative regulation of tubulin deacetylation, regulation of cell population proliferation, regulation of cell migration, chromosome segregation, 25 29 55 137 76 119 68 63 73 ENSG00000102445 chr13 46342000 46438190 - RUBCNL protein_coding This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017]. 80183 GO:0043231, GO:0031410, GO:0000421, GO:0000421, intracellular membrane-bounded organelle, cytoplasmic vesicle, autophagosome membrane, autophagosome membrane, GO:1901981, GO:0070273, GO:0032266, GO:0010314, GO:0005515, phosphatidylinositol phosphate binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, protein binding, GO:0097352, GO:0097352, GO:0070873, GO:0061910, GO:0061910, GO:0061909, GO:0061909, GO:0019216, GO:0006629, autophagosome maturation, autophagosome maturation, regulation of glycogen metabolic process, autophagosome-endosome fusion, autophagosome-endosome fusion, autophagosome-lysosome fusion, autophagosome-lysosome fusion, regulation of lipid metabolic process, lipid metabolic process, 4394 4040 5285 2213 2770 3165 2419 1879 2372 ENSG00000102452 chr13 101053776 101416492 - NALCN protein_coding This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]. 259232 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0022840, GO:0005515, GO:0005272, GO:0005261, GO:0005244, leak channel activity, protein binding, sodium channel activity, cation channel activity, voltage-gated ion channel activity, GO:0071805, GO:0070588, GO:0060075, GO:0035725, GO:0034765, GO:0034220, potassium ion transmembrane transport, calcium ion transmembrane transport, regulation of resting membrane potential, sodium ion transmembrane transport, regulation of ion transmembrane transport, ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000102466 chr13 101710804 102402457 - FGF14 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 2259 GO:0005737, GO:0005634, GO:0005576, cytoplasm, nucleus, extracellular region, GO:0017080, GO:0008083, GO:0005515, sodium channel regulator activity, growth factor activity, protein binding, GO:1905150, GO:1903421, GO:1901843, GO:0060078, GO:0048167, GO:0007399, GO:0007267, GO:0007165, regulation of voltage-gated sodium channel activity, regulation of synaptic vesicle recycling, positive regulation of high voltage-gated calcium channel activity, regulation of postsynaptic membrane potential, regulation of synaptic plasticity, nervous system development, cell-cell signaling, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000102468 chr13 46831550 46897076 - HTR2A protein_coding This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 3356 GO:0099056, GO:0098978, GO:0098666, GO:0070852, GO:0043198, GO:0043025, GO:0031410, GO:0030425, GO:0030424, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005829, integral component of presynaptic membrane, glutamatergic synapse, G protein-coupled serotonin receptor complex, cell body fiber, dendritic shaft, neuronal cell body, cytoplasmic vesicle, dendrite, axon, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0071886, GO:0051378, GO:0044877, GO:0042802, GO:0030594, GO:0005515, GO:0004993, GO:0004993, GO:0001965, GO:0001618, GO:0001587, 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding, serotonin binding, protein-containing complex binding, identical protein binding, neurotransmitter receptor activity, protein binding, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, G-protein alpha-subunit binding, virus receptor activity, Gq/11-coupled serotonin receptor activity, GO:2000300, GO:0098664, GO:0098664, GO:0070374, GO:0051967, GO:0051209, GO:0051209, GO:0051209, GO:0050966, GO:0050965, GO:0050731, GO:0048148, GO:0046718, GO:0045907, GO:0045821, GO:0045600, GO:0044380, GO:0043406, GO:0043267, GO:0042493, GO:0042493, GO:0030431, GO:0014832, GO:0014824, GO:0014065, GO:0014059, GO:0010513, GO:0008284, GO:0008219, GO:0007613, GO:0007568, GO:0007268, GO:0007210, GO:0007208, GO:0007202, GO:0007200, GO:0007187, GO:0007186, GO:0006874, GO:0001659, regulation of synaptic vesicle exocytosis, G protein-coupled serotonin receptor signaling pathway, G protein-coupled serotonin receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, negative regulation of synaptic transmission, glutamatergic, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, detection of mechanical stimulus involved in sensory perception of pain, detection of temperature stimulus involved in sensory perception of pain, positive regulation of peptidyl-tyrosine phosphorylation, behavioral response to cocaine, viral entry into host cell, positive regulation of vasoconstriction, positive regulation of glycolytic process, positive regulation of fat cell differentiation, protein localization to cytoskeleton, positive regulation of MAP kinase activity, negative regulation of potassium ion transport, response to drug, response to drug, sleep, urinary bladder smooth muscle contraction, artery smooth muscle contraction, phosphatidylinositol 3-kinase signaling, regulation of dopamine secretion, positive regulation of phosphatidylinositol biosynthetic process, positive regulation of cell population proliferation, cell death, memory, aging, chemical synaptic transmission, serotonin receptor signaling pathway, phospholipase C-activating serotonin receptor signaling pathway, activation of phospholipase C activity, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cellular calcium ion homeostasis, temperature homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000102471 chr13 79481124 79556075 + NDFIP2 protein_coding 54602 GO:0048471, GO:0048471, GO:0043231, GO:0032585, GO:0016021, GO:0005794, GO:0005794, GO:0005783, GO:0005783, GO:0005739, GO:0005737, GO:0000139, perinuclear region of cytoplasm, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, multivesicular body membrane, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, mitochondrion, cytoplasm, Golgi membrane, GO:0050699, GO:0050699, GO:0005515, WW domain binding, WW domain binding, protein binding, GO:0051224, GO:0043123, GO:0032410, GO:0031398, GO:0031398, GO:0030001, GO:0010629, GO:0007034, GO:0006511, negative regulation of protein transport, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of transporter activity, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, metal ion transport, negative regulation of gene expression, vacuolar transport, ubiquitin-dependent protein catabolic process, 6 8 23 8 2 12 16 4 4 ENSG00000102524 chr13 108251240 108308484 + TNFSF13B protein_coding The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]. 10673 GO:0048471, GO:0016021, GO:0005886, GO:0005737, GO:0005615, GO:0005576, perinuclear region of cytoplasm, integral component of membrane, plasma membrane, cytoplasm, extracellular space, extracellular region, GO:0005515, GO:0005164, GO:0005125, GO:0005102, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:0042102, GO:0033209, GO:0031296, GO:0031295, GO:0030890, GO:0030890, GO:0030890, GO:0007165, GO:0006955, GO:0002636, GO:0002377, GO:0001782, positive regulation of T cell proliferation, tumor necrosis factor-mediated signaling pathway, B cell costimulation, T cell costimulation, positive regulation of B cell proliferation, positive regulation of B cell proliferation, positive regulation of B cell proliferation, signal transduction, immune response, positive regulation of germinal center formation, immunoglobulin production, B cell homeostasis, 2054 2007 2231 431 1130 685 709 1147 669 ENSG00000102531 chr13 48975912 49209779 + FNDC3A protein_coding 22862 GO:0016021, GO:0016020, GO:0012506, GO:0005829, GO:0005794, GO:0001669, GO:0000139, integral component of membrane, membrane, vesicle membrane, cytosol, Golgi apparatus, acrosomal vesicle, Golgi membrane, GO:0003723, RNA binding, GO:0098609, GO:0060009, GO:0009566, GO:0007286, cell-cell adhesion, Sertoli cell development, fertilization, spermatid development, 444 468 800 385 487 583 410 339 413 ENSG00000102539 chr13 49220338 49222377 + MLNR protein_coding Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011]. 2862 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0042562, GO:0008528, hormone binding, G protein-coupled peptide receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 1 4 3 0 1 0 3 1 1 ENSG00000102543 chr13 49247925 49293485 + CDADC1 protein_coding 81602 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0061676, GO:0042803, GO:0008270, GO:0004126, importin-alpha family protein binding, protein homodimerization activity, zinc ion binding, cytidine deaminase activity, GO:0070383, GO:0009972, DNA cytosine deamination, cytidine deamination, 329 347 427 249 375 374 266 295 349 ENSG00000102547 chr13 49308650 49444126 - CAB39L protein_coding 81617 GO:0005829, cytosol, GO:0043539, GO:0005515, protein serine/threonine kinase activator activity, protein binding, GO:0071902, GO:0035556, GO:0007050, positive regulation of protein serine/threonine kinase activity, intracellular signal transduction, cell cycle arrest, 43 56 63 52 81 68 45 53 45 ENSG00000102554 chr13 73054976 73077542 + KLF5 protein_coding This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 688 GO:0043231, GO:0005794, GO:0005654, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, Golgi apparatus, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0046872, GO:0008134, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902895, GO:1901653, GO:0099156, GO:0071407, GO:0045944, GO:0008284, GO:0006357, positive regulation of pri-miRNA transcription by RNA polymerase II, cellular response to peptide, cell-cell signaling via exosome, cellular response to organic cyclic compound, positive regulation of transcription by RNA polymerase II, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 61 80 89 61 129 144 63 78 79 ENSG00000102572 chr13 98445185 98577940 - STK24 protein_coding This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 8428 GO:0070062, GO:0016020, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0045296, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, cadherin binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0097194, GO:0097194, GO:0048679, GO:0046777, GO:0046777, GO:0042542, GO:0030336, GO:0009267, GO:0008631, GO:0007165, GO:0006468, execution phase of apoptosis, execution phase of apoptosis, regulation of axon regeneration, protein autophosphorylation, protein autophosphorylation, response to hydrogen peroxide, negative regulation of cell migration, cellular response to starvation, intrinsic apoptotic signaling pathway in response to oxidative stress, signal transduction, protein phosphorylation, 1056 1819 1625 655 1678 1024 691 1438 827 ENSG00000102575 chr19 11574660 11579008 - ACP5 protein_coding This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]. 54 GO:0016021, GO:0005829, GO:0005764, integral component of membrane, cytosol, lysosome, GO:0008199, GO:0008199, GO:0008198, GO:0008198, GO:0003993, ferric iron binding, ferric iron binding, ferrous iron binding, ferrous iron binding, acid phosphatase activity, GO:0060349, GO:0050830, GO:0050728, GO:0045453, GO:0045019, GO:0034097, GO:0032929, GO:0032720, GO:0032695, GO:0032691, GO:0032496, GO:0016311, GO:0006771, GO:0001503, bone morphogenesis, defense response to Gram-positive bacterium, negative regulation of inflammatory response, bone resorption, negative regulation of nitric oxide biosynthetic process, response to cytokine, negative regulation of superoxide anion generation, negative regulation of tumor necrosis factor production, negative regulation of interleukin-12 production, negative regulation of interleukin-1 beta production, response to lipopolysaccharide, dephosphorylation, riboflavin metabolic process, ossification, 40 10 26 47 11 34 46 19 15 ENSG00000102580 chr13 95677139 95794989 + DNAJC3 protein_coding This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]. 5611 GO:1903561, GO:0070062, GO:0035578, GO:0016020, GO:0005829, GO:0005790, GO:0005788, GO:0005783, GO:0005783, GO:0005737, GO:0005576, extracellular vesicle, extracellular exosome, azurophil granule lumen, membrane, cytosol, smooth endoplasmic reticulum, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, extracellular region, GO:0051787, GO:0051087, GO:0019901, GO:0004860, misfolded protein binding, chaperone binding, protein kinase binding, protein kinase inhibitor activity, GO:1903912, GO:1903912, GO:0070417, GO:0051607, GO:0051603, GO:0044267, GO:0043687, GO:0043312, GO:0043066, GO:0036498, GO:0036494, GO:0034975, GO:0006469, negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation, negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation, cellular response to cold, defense response to virus, proteolysis involved in cellular protein catabolic process, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, negative regulation of apoptotic process, IRE1-mediated unfolded protein response, positive regulation of translation initiation in response to endoplasmic reticulum stress, protein folding in endoplasmic reticulum, negative regulation of protein kinase activity, 1594 1561 1961 683 1080 1059 862 805 801 ENSG00000102595 chr13 95801580 96053482 - UGGT2 protein_coding UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]. 55757 GO:0044322, GO:0032991, GO:0005793, GO:0005788, GO:0005788, GO:0005783, endoplasmic reticulum quality control compartment, protein-containing complex, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0051082, GO:0005515, GO:0003980, GO:0003980, unfolded protein binding, protein binding, UDP-glucose:glycoprotein glucosyltransferase activity, UDP-glucose:glycoprotein glucosyltransferase activity, GO:1904380, GO:0097359, GO:0071712, GO:0018279, endoplasmic reticulum mannose trimming, UDP-glucosylation, ER-associated misfolded protein catabolic process, protein N-linked glycosylation via asparagine, 2 2 5 0 3 2 0 2 5 ENSG00000102606 chr13 111114559 111305737 + ARHGEF7 protein_coding This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]. 8874 GO:0043025, GO:0043005, GO:0032991, GO:0030027, GO:0005938, GO:0005925, GO:0005829, GO:0001726, neuronal cell body, neuron projection, protein-containing complex, lamellipodium, cell cortex, focal adhesion, cytosol, ruffle, GO:0019901, GO:0005515, GO:0005085, GO:0005085, protein kinase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000394, GO:1904424, GO:1900026, GO:0051056, GO:0048041, GO:0048013, GO:0043547, GO:0043547, GO:0043065, GO:0043065, GO:0042059, GO:0035556, GO:0030032, GO:0010763, GO:0007399, GO:0007186, GO:0007165, GO:0007030, positive regulation of lamellipodium morphogenesis, regulation of GTP binding, positive regulation of substrate adhesion-dependent cell spreading, regulation of small GTPase mediated signal transduction, focal adhesion assembly, ephrin receptor signaling pathway, positive regulation of GTPase activity, positive regulation of GTPase activity, positive regulation of apoptotic process, positive regulation of apoptotic process, negative regulation of epidermal growth factor receptor signaling pathway, intracellular signal transduction, lamellipodium assembly, positive regulation of fibroblast migration, nervous system development, G protein-coupled receptor signaling pathway, signal transduction, Golgi organization, 340 341 572 310 426 544 314 293 399 ENSG00000102678 chr13 21671383 21704498 + FGF9 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]. 2254 GO:0005737, GO:0005615, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0008201, GO:0008083, GO:0005104, heparin binding, growth factor activity, fibroblast growth factor receptor binding, GO:1905931, GO:1904754, GO:1904707, GO:1904707, GO:0090263, GO:0060484, GO:0060045, GO:0051897, GO:0051781, GO:0050679, GO:0048706, GO:0048566, GO:0048505, GO:0045880, GO:0043410, GO:0042472, GO:0032927, GO:0030949, GO:0030334, GO:0030326, GO:0030324, GO:0030238, GO:0030178, GO:0030154, GO:0021762, GO:0010628, GO:0009887, GO:0008584, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0007267, GO:0007165, GO:0006606, GO:0002062, GO:0002053, GO:0001934, GO:0001654, GO:0001649, GO:0001525, GO:0000165, GO:0000122, negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of canonical Wnt signaling pathway, lung-associated mesenchyme development, positive regulation of cardiac muscle cell proliferation, positive regulation of protein kinase B signaling, positive regulation of cell division, positive regulation of epithelial cell proliferation, embryonic skeletal system development, embryonic digestive tract development, regulation of timing of cell differentiation, positive regulation of smoothened signaling pathway, positive regulation of MAPK cascade, inner ear morphogenesis, positive regulation of activin receptor signaling pathway, positive regulation of vascular endothelial growth factor receptor signaling pathway, regulation of cell migration, embryonic limb morphogenesis, lung development, male sex determination, negative regulation of Wnt signaling pathway, cell differentiation, substantia nigra development, positive regulation of gene expression, animal organ morphogenesis, male gonad development, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, protein import into nucleus, chondrocyte differentiation, positive regulation of mesenchymal cell proliferation, positive regulation of protein phosphorylation, eye development, osteoblast differentiation, angiogenesis, MAPK cascade, negative regulation of transcription by RNA polymerase II, 11 3 22 5 2 8 7 0 1 ENSG00000102683 chr13 23180952 23325165 + SGCG protein_coding This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]. 6445 GO:0042383, GO:0016021, GO:0016012, GO:0005886, GO:0005856, GO:0005737, sarcolemma, integral component of membrane, sarcoglycan complex, plasma membrane, cytoskeleton, cytoplasm, GO:0005515, protein binding, GO:0060047, GO:0048738, GO:0007517, heart contraction, cardiac muscle tissue development, muscle organ development, 0 0 0 0 0 0 0 0 0 ENSG00000102699 chr13 24420926 24512810 - PARP4 protein_coding This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]. 143 GO:1990904, GO:0070062, GO:0016020, GO:0005876, GO:0005829, GO:0005737, GO:0005634, ribonucleoprotein complex, extracellular exosome, membrane, spindle microtubule, cytosol, cytoplasm, nucleus, GO:1990404, GO:0019899, GO:0005515, GO:0003950, GO:0003950, GO:0003677, protein ADP-ribosylase activity, enzyme binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, DNA binding, GO:0140289, GO:0051972, GO:0042493, GO:0008219, GO:0006974, GO:0006954, GO:0006471, GO:0006464, GO:0006281, protein mono-ADP-ribosylation, regulation of telomerase activity, response to drug, cell death, cellular response to DNA damage stimulus, inflammatory response, protein ADP-ribosylation, cellular protein modification process, DNA repair, 1566 1020 2073 1045 933 1304 1109 707 1026 ENSG00000102710 chr13 37009312 37059713 - SUPT20H protein_coding 55578 GO:0070461, GO:0000124, SAGA-type complex, SAGA complex, GO:0005515, GO:0003712, GO:0003712, protein binding, transcription coregulator activity, transcription coregulator activity, GO:0007369, GO:0006914, GO:0006357, gastrulation, autophagy, regulation of transcription by RNA polymerase II, 988 831 960 567 888 827 705 759 824 ENSG00000102738 chr13 40729135 40771173 - MRPS31 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]. 10240 GO:0005763, GO:0005743, GO:0005739, GO:0005730, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleolus, GO:0019904, GO:0005515, GO:0003735, GO:0003723, protein domain specific binding, protein binding, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 25 16 36 59 46 54 61 27 45 ENSG00000102743 chr13 40789412 40810111 + SLC25A15 protein_coding This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]. 10166 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0000064, L-ornithine transmembrane transporter activity, GO:1990575, GO:0000050, mitochondrial L-ornithine transmembrane transport, urea cycle, 4 2 2 14 2 9 9 2 8 ENSG00000102753 chr13 49699307 49792921 - KPNA3 protein_coding The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]. 3839 GO:0043657, GO:0005829, GO:0005654, GO:0005654, GO:0005643, GO:0005634, host cell, cytosol, nucleoplasm, nucleoplasm, nuclear pore, nucleus, GO:0061608, GO:0008139, GO:0008022, GO:0005515, nuclear import signal receptor activity, nuclear localization sequence binding, protein C-terminus binding, protein binding, GO:0075732, GO:0065003, GO:0046718, GO:0019054, GO:0006607, viral penetration into host nucleus, protein-containing complex assembly, viral entry into host cell, modulation by virus of host cellular process, NLS-bearing protein import into nucleus, 164 146 264 153 152 244 144 91 155 ENSG00000102755 chr13 28300344 28495145 - FLT1 protein_coding This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]. 2321 GO:0043235, GO:0043235, GO:0015629, GO:0005925, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005768, GO:0005615, receptor complex, receptor complex, actin cytoskeleton, focal adhesion, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endosome, extracellular space, GO:0036332, GO:0019838, GO:0005524, GO:0005515, GO:0005021, GO:0005021, GO:0004714, placental growth factor-activated receptor activity, growth factor binding, ATP binding, protein binding, vascular endothelial growth factor-activated receptor activity, vascular endothelial growth factor-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:1990384, GO:1905563, GO:0048598, GO:0048514, GO:0048010, GO:0048010, GO:0048010, GO:0046777, GO:0045766, GO:0045766, GO:0043552, GO:0043410, GO:0043406, GO:0038084, GO:0036323, GO:0035924, GO:0033674, GO:0030335, GO:0018108, GO:0016477, GO:0016477, GO:0014068, GO:0010863, GO:0008284, GO:0007275, GO:0007169, GO:0002548, GO:0002244, GO:0001525, hyaloid vascular plexus regression, negative regulation of vascular endothelial cell proliferation, embryonic morphogenesis, blood vessel morphogenesis, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, vascular endothelial growth factor signaling pathway, vascular endothelial growth factor receptor-1 signaling pathway, cellular response to vascular endothelial growth factor stimulus, positive regulation of kinase activity, positive regulation of cell migration, peptidyl-tyrosine phosphorylation, cell migration, cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phospholipase C activity, positive regulation of cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, monocyte chemotaxis, hematopoietic progenitor cell differentiation, angiogenesis, 48 28 529 28 24 133 7 17 49 ENSG00000102760 chr13 41457559 41470882 + RGCC protein_coding This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]. 28984 GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, cytosol, centrosome, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0070412, GO:0030295, GO:0030295, GO:0019901, GO:0019901, GO:0019901, GO:0005515, R-SMAD binding, protein kinase activator activity, protein kinase activator activity, protein kinase binding, protein kinase binding, protein kinase binding, protein binding, GO:2000573, GO:2000353, GO:2000048, GO:1901991, GO:1901203, GO:1900087, GO:0090272, GO:0072537, GO:0071850, GO:0071456, GO:0071158, GO:0051496, GO:0051091, GO:0045944, GO:0045840, GO:0045737, GO:0045737, GO:0043537, GO:0032967, GO:0032147, GO:0016525, GO:0010718, GO:0010718, GO:0010628, GO:0008285, GO:0006977, GO:0006956, GO:0003331, GO:0001937, GO:0001819, GO:0001818, GO:0001100, positive regulation of DNA biosynthetic process, positive regulation of endothelial cell apoptotic process, negative regulation of cell-cell adhesion mediated by cadherin, negative regulation of mitotic cell cycle phase transition, positive regulation of extracellular matrix assembly, positive regulation of G1/S transition of mitotic cell cycle, negative regulation of fibroblast growth factor production, fibroblast activation, mitotic cell cycle arrest, cellular response to hypoxia, positive regulation of cell cycle arrest, positive regulation of stress fiber assembly, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic nuclear division, positive regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of blood vessel endothelial cell migration, positive regulation of collagen biosynthetic process, activation of protein kinase activity, negative regulation of angiogenesis, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial to mesenchymal transition, positive regulation of gene expression, negative regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, complement activation, positive regulation of extracellular matrix constituent secretion, negative regulation of endothelial cell proliferation, positive regulation of cytokine production, negative regulation of cytokine production, negative regulation of exit from mitosis, 147 90 182 230 71 255 193 74 210 ENSG00000102763 chr13 41566837 41961120 - VWA8 protein_coding 23078 GO:0005777, GO:0005739, GO:0005739, GO:0005737, peroxisome, mitochondrion, mitochondrion, cytoplasm, GO:0016887, GO:0016887, GO:0005524, GO:0005515, ATPase activity, ATPase activity, ATP binding, protein binding, 32 27 49 68 36 82 69 20 67 ENSG00000102780 chr13 42040036 42256578 + DGKH protein_coding This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]. 160851 GO:0015629, GO:0005886, GO:0005886, GO:0005768, GO:0005737, actin cytoskeleton, plasma membrane, plasma membrane, endosome, cytoplasm, GO:0046872, GO:0005524, GO:0004143, GO:0004143, GO:0004143, GO:0004143, GO:0003951, metal ion binding, ATP binding, diacylglycerol kinase activity, diacylglycerol kinase activity, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:0046834, GO:0046834, GO:0046473, GO:0046339, GO:0046339, GO:0035556, GO:0030168, GO:0007205, GO:0006654, lipid phosphorylation, lipid phosphorylation, phosphatidic acid metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, intracellular signal transduction, platelet activation, protein kinase C-activating G protein-coupled receptor signaling pathway, phosphatidic acid biosynthetic process, 31 35 70 67 15 76 61 17 69 ENSG00000102781 chr13 30202630 30307484 - KATNAL1 protein_coding 84056 GO:0015630, GO:0005874, GO:0005819, GO:0005813, GO:0005737, GO:0005634, GO:0000922, microtubule cytoskeleton, microtubule, spindle, centrosome, cytoplasm, nucleus, spindle pole, GO:0042802, GO:0016887, GO:0016853, GO:0008568, GO:0008568, GO:0008017, GO:0005524, GO:0005515, identical protein binding, ATPase activity, isomerase activity, microtubule-severing ATPase activity, microtubule-severing ATPase activity, microtubule binding, ATP binding, protein binding, GO:0051013, GO:0051013, GO:0031122, GO:0007283, microtubule severing, microtubule severing, cytoplasmic microtubule organization, spermatogenesis, 8 5 7 21 13 35 25 6 29 ENSG00000102786 chr13 51354077 51454264 - INTS6 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]. 26512 GO:0032039, GO:0032039, GO:0015629, GO:0005654, GO:0005654, GO:0005634, integrator complex, integrator complex, actin cytoskeleton, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0042795, GO:0034472, GO:0016180, snRNA transcription by RNA polymerase II, snRNA 3'-end processing, snRNA processing, 1025 945 1282 1014 1312 1449 1106 807 1103 ENSG00000102794 chr13 76948497 76958642 + ACOD1 protein_coding 730249 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0047613, GO:0047613, aconitate decarboxylase activity, aconitate decarboxylase activity, GO:2000379, GO:0072573, GO:0071393, GO:0071356, GO:0071347, GO:0071346, GO:0071222, GO:0071219, GO:0051607, GO:0050728, GO:0045824, GO:0035458, GO:0034144, GO:0034136, GO:0032480, GO:0032088, GO:0007566, GO:0006954, GO:0006952, GO:0006952, GO:0002760, positive regulation of reactive oxygen species metabolic process, tolerance induction to lipopolysaccharide, cellular response to progesterone stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, cellular response to lipopolysaccharide, cellular response to molecule of bacterial origin, defense response to virus, negative regulation of inflammatory response, negative regulation of innate immune response, cellular response to interferon-beta, negative regulation of toll-like receptor 4 signaling pathway, negative regulation of toll-like receptor 2 signaling pathway, negative regulation of type I interferon production, negative regulation of NF-kappaB transcription factor activity, embryo implantation, inflammatory response, defense response, defense response, positive regulation of antimicrobial humoral response, 0 0 0 0 0 0 0 0 0 ENSG00000102796 chr13 51767993 51804157 - DHRS12 protein_coding This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. 79758 GO:0016491, oxidoreductase activity, GO:0055114, oxidation-reduction process, 169 161 273 186 202 440 242 142 405 ENSG00000102802 chr13 30906191 30925572 + MEDAG protein_coding 84935 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0045600, positive regulation of fat cell differentiation, 3 0 0 0 3 0 0 0 0 ENSG00000102804 chr13 44432143 44577147 - TSC22D1 protein_coding This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. 8848 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003700, protein binding, DNA-binding transcription factor activity, GO:0006366, GO:0006355, transcription by RNA polymerase II, regulation of transcription, DNA-templated, 31 48 63 32 41 74 59 29 59 ENSG00000102805 chr13 76990660 77019143 + CLN5 protein_coding This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]. 1203 GO:0070062, GO:0048471, GO:0016021, GO:0016021, GO:0005829, GO:0005794, GO:0005783, GO:0005765, GO:0005765, GO:0005764, extracellular exosome, perinuclear region of cytoplasm, integral component of membrane, integral component of membrane, cytosol, Golgi apparatus, endoplasmic reticulum, lysosomal membrane, lysosomal membrane, lysosome, GO:0016798, GO:0005537, GO:0005515, hydrolase activity, acting on glycosyl bonds, mannose binding, protein binding, GO:1904426, GO:0070085, GO:0042551, GO:0042147, GO:0030163, GO:0022008, GO:0007420, GO:0007042, GO:0007040, GO:0006465, positive regulation of GTP binding, glycosylation, neuron maturation, retrograde transport, endosome to Golgi, protein catabolic process, neurogenesis, brain development, lysosomal lumen acidification, lysosome organization, signal peptide processing, 327 362 481 179 294 304 228 232 331 ENSG00000102837 chr13 53028759 53052057 + OLFM4 protein_coding This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011]. 10562 GO:1904724, GO:0070062, GO:0048471, GO:0045171, GO:0042582, GO:0042581, GO:0035580, GO:0032991, GO:0030141, GO:0005886, GO:0005829, GO:0005739, GO:0005654, GO:0005615, GO:0005615, GO:0005615, GO:0005576, tertiary granule lumen, extracellular exosome, perinuclear region of cytoplasm, intercellular bridge, azurophil granule, specific granule, specific granule lumen, protein-containing complex, secretory granule, plasma membrane, cytosol, mitochondrion, nucleoplasm, extracellular space, extracellular space, extracellular space, extracellular region, GO:0045296, GO:0005515, GO:0005198, GO:0003824, cadherin binding, protein binding, structural molecule activity, catalytic activity, GO:2000389, GO:1900026, GO:0050764, GO:0043312, GO:0042981, GO:0010939, GO:0007155, regulation of neutrophil extravasation, positive regulation of substrate adhesion-dependent cell spreading, regulation of phagocytosis, neutrophil degranulation, regulation of apoptotic process, regulation of necrotic cell death, cell adhesion, 0 1 2 0 6 3 0 3 0 ENSG00000102854 chr16 760762 768865 + MSLN protein_coding This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 10232 GO:0031225, GO:0016020, GO:0009986, GO:0005886, GO:0005794, GO:0005788, GO:0005615, GO:0005576, anchored component of membrane, membrane, cell surface, plasma membrane, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0005515, protein binding, GO:0044267, GO:0043687, GO:0031016, GO:0007160, GO:0007155, cellular protein metabolic process, post-translational protein modification, pancreas development, cell-matrix adhesion, cell adhesion, 0 0 0 0 0 9 0 1 0 ENSG00000102858 chr16 4616493 4690974 + MGRN1 protein_coding Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM, Apr 2004]. 23295 GO:0070062, GO:0043231, GO:0016020, GO:0005886, GO:0005829, GO:0005769, GO:0005769, GO:0005737, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, intracellular membrane-bounded organelle, membrane, plasma membrane, cytosol, early endosome, early endosome, cytoplasm, cytoplasm, nucleus, nucleus, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0045879, GO:0045744, GO:0045744, GO:0043951, GO:0043951, GO:0016567, GO:0008333, GO:0008333, GO:0006513, GO:0000209, negative regulation of smoothened signaling pathway, negative regulation of G protein-coupled receptor signaling pathway, negative regulation of G protein-coupled receptor signaling pathway, negative regulation of cAMP-mediated signaling, negative regulation of cAMP-mediated signaling, protein ubiquitination, endosome to lysosome transport, endosome to lysosome transport, protein monoubiquitination, protein polyubiquitination, 2335 2368 2971 1445 2091 1709 1899 1670 1622 ENSG00000102870 chr16 30778449 30787202 - ZNF629 protein_coding 23361 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 21 17 16 23 24 37 16 9 8 ENSG00000102871 chr16 67154180 67160298 - TRADD protein_coding The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008]. 8717 GO:0045121, GO:0043235, GO:0031264, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005634, GO:0002947, GO:0002947, membrane raft, receptor complex, death-inducing signaling complex, plasma membrane, cytoskeleton, cytosol, cytoplasm, nucleus, tumor necrosis factor receptor superfamily complex, tumor necrosis factor receptor superfamily complex, GO:0070513, GO:0044877, GO:0042802, GO:0019900, GO:0005515, GO:0005164, GO:0005068, GO:0005068, death domain binding, protein-containing complex binding, identical protein binding, kinase binding, protein binding, tumor necrosis factor receptor binding, transmembrane receptor protein tyrosine kinase adaptor activity, transmembrane receptor protein tyrosine kinase adaptor activity, GO:1902042, GO:1902041, GO:1901224, GO:0097191, GO:0097191, GO:0097191, GO:0071550, GO:0071356, GO:0051798, GO:0051092, GO:0051092, GO:0050729, GO:0043123, GO:0043065, GO:0033209, GO:0030335, GO:0010803, GO:0008625, GO:0007249, GO:0007169, GO:0007165, GO:0006919, GO:0006915, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of NIK/NF-kappaB signaling, extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, death-inducing signaling complex assembly, cellular response to tumor necrosis factor, positive regulation of hair follicle development, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of inflammatory response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, positive regulation of cell migration, regulation of tumor necrosis factor-mediated signaling pathway, extrinsic apoptotic signaling pathway via death domain receptors, I-kappaB kinase/NF-kappaB signaling, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 324 267 315 245 277 211 241 261 237 ENSG00000102878 chr16 67164681 67169945 + HSF4 protein_coding Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008]. 3299 GO:0016607, GO:0005634, GO:0000785, GO:0000785, nuclear speck, nucleus, chromatin, chromatin, GO:1990837, GO:0042802, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, identical protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048468, GO:0045944, GO:0045597, GO:0043010, GO:0033169, GO:0008284, GO:0007601, GO:0006357, GO:0000122, cell development, positive regulation of transcription by RNA polymerase II, positive regulation of cell differentiation, camera-type eye development, histone H3-K9 demethylation, positive regulation of cell population proliferation, visual perception, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 25 3 27 32 16 44 25 6 59 ENSG00000102879 chr16 30182827 30189076 + CORO1A protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]. 11151 GO:0098978, GO:0070062, GO:0045335, GO:0032991, GO:0030864, GO:0030864, GO:0030670, GO:0030027, GO:0016020, GO:0005911, GO:0005886, GO:0005884, GO:0005829, GO:0005769, GO:0005737, GO:0005634, GO:0001891, GO:0001772, glutamatergic synapse, extracellular exosome, phagocytic vesicle, protein-containing complex, cortical actin cytoskeleton, cortical actin cytoskeleton, phagocytic vesicle membrane, lamellipodium, membrane, cell-cell junction, plasma membrane, actin filament, cytosol, early endosome, cytoplasm, nucleus, phagocytic cup, immunological synapse, GO:0051015, GO:0051015, GO:0051015, GO:0043548, GO:0042803, GO:0032036, GO:0008092, GO:0008022, GO:0005515, GO:0003785, GO:0003779, GO:0003723, actin filament binding, actin filament binding, actin filament binding, phosphatidylinositol 3-kinase binding, protein homodimerization activity, myosin heavy chain binding, cytoskeletal protein binding, protein C-terminus binding, protein binding, actin monomer binding, actin binding, RNA binding, GO:0071353, GO:0061502, GO:0051126, GO:0050918, GO:0050870, GO:0048873, GO:0045087, GO:0043524, GO:0043320, GO:0043029, GO:0038180, GO:0032956, GO:0032796, GO:0031589, GO:0030595, GO:0030335, GO:0030036, GO:0016477, GO:0007015, GO:0006909, GO:0001845, GO:0001771, cellular response to interleukin-4, early endosome to recycling endosome transport, negative regulation of actin nucleation, positive chemotaxis, positive regulation of T cell activation, homeostasis of number of cells within a tissue, innate immune response, negative regulation of neuron apoptotic process, natural killer cell degranulation, T cell homeostasis, nerve growth factor signaling pathway, regulation of actin cytoskeleton organization, uropod organization, cell-substrate adhesion, leukocyte chemotaxis, positive regulation of cell migration, actin cytoskeleton organization, cell migration, actin filament organization, phagocytosis, phagolysosome assembly, immunological synapse formation, 11767 10245 13592 4473 7655 6300 5737 7371 5812 ENSG00000102882 chr16 30114105 30123506 - MAPK3 protein_coding The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]. 5595 GO:0032991, GO:0031143, GO:0005925, GO:0005901, GO:0005901, GO:0005886, GO:0005856, GO:0005829, GO:0005794, GO:0005770, GO:0005769, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005635, GO:0005634, GO:0005634, protein-containing complex, pseudopodium, focal adhesion, caveola, caveola, plasma membrane, cytoskeleton, cytosol, Golgi apparatus, late endosome, early endosome, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nuclear envelope, nucleus, nucleus, GO:0097110, GO:0042802, GO:0019902, GO:0005524, GO:0005515, GO:0004708, GO:0004707, GO:0004707, GO:0004707, GO:0001784, scaffold protein binding, identical protein binding, phosphatase binding, ATP binding, protein binding, MAP kinase kinase activity, MAP kinase activity, MAP kinase activity, MAP kinase activity, phosphotyrosine residue binding, GO:2000657, GO:2000641, GO:1905050, GO:1904417, GO:1904355, GO:1903351, GO:1900034, GO:0120041, GO:0090170, GO:0072584, GO:0071356, GO:0071276, GO:0071260, GO:0070849, GO:0070498, GO:0070374, GO:0070371, GO:0065003, GO:0061308, GO:0060440, GO:0060425, GO:0060324, GO:0060020, GO:0051973, GO:0051493, GO:0051403, GO:0051216, GO:0051090, GO:0048538, GO:0046697, GO:0045944, GO:0045727, GO:0043330, GO:0042473, GO:0038096, GO:0038095, GO:0038083, GO:0035556, GO:0035066, GO:0034614, GO:0034198, GO:0033129, GO:0032872, GO:0032212, GO:0031663, GO:0031281, GO:0030878, GO:0030641, GO:0030509, GO:0030278, GO:0030168, GO:0019369, GO:0019233, GO:0018105, GO:0016310, GO:0016032, GO:0014066, GO:0010759, GO:0010628, GO:0010468, GO:0009636, GO:0008543, GO:0007568, GO:0007411, GO:0007166, GO:0007049, GO:0006975, GO:0006915, GO:0006468, GO:0006361, GO:0002720, GO:0001934, GO:0000187, GO:0000186, GO:0000165, GO:0000165, negative regulation of apolipoprotein binding, regulation of early endosome to late endosome transport, positive regulation of metallopeptidase activity, positive regulation of xenophagy, positive regulation of telomere capping, cellular response to dopamine, regulation of cellular response to heat, positive regulation of macrophage proliferation, regulation of Golgi inheritance, caveolin-mediated endocytosis, cellular response to tumor necrosis factor, cellular response to cadmium ion, cellular response to mechanical stimulus, response to epidermal growth factor, interleukin-1-mediated signaling pathway, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, protein-containing complex assembly, cardiac neural crest cell development involved in heart development, trachea formation, lung morphogenesis, face development, Bergmann glial cell differentiation, positive regulation of telomerase activity, regulation of cytoskeleton organization, stress-activated MAPK cascade, cartilage development, regulation of DNA-binding transcription factor activity, thymus development, decidualization, positive regulation of transcription by RNA polymerase II, positive regulation of translation, response to exogenous dsRNA, outer ear morphogenesis, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, peptidyl-tyrosine autophosphorylation, intracellular signal transduction, positive regulation of histone acetylation, cellular response to reactive oxygen species, cellular response to amino acid starvation, positive regulation of histone phosphorylation, regulation of stress-activated MAPK cascade, positive regulation of telomere maintenance via telomerase, lipopolysaccharide-mediated signaling pathway, positive regulation of cyclase activity, thyroid gland development, regulation of cellular pH, BMP signaling pathway, regulation of ossification, platelet activation, arachidonic acid metabolic process, sensory perception of pain, peptidyl-serine phosphorylation, phosphorylation, viral process, regulation of phosphatidylinositol 3-kinase signaling, positive regulation of macrophage chemotaxis, positive regulation of gene expression, regulation of gene expression, response to toxic substance, fibroblast growth factor receptor signaling pathway, aging, axon guidance, cell surface receptor signaling pathway, cell cycle, DNA damage induced protein phosphorylation, apoptotic process, protein phosphorylation, transcription initiation from RNA polymerase I promoter, positive regulation of cytokine production involved in immune response, positive regulation of protein phosphorylation, activation of MAPK activity, activation of MAPKK activity, MAPK cascade, MAPK cascade, 1481 1106 1697 588 925 771 656 747 761 ENSG00000102886 chr16 30104810 30113856 - GDPD3 protein_coding 79153 GO:0070062, GO:0048471, GO:0016021, GO:0005789, GO:0005789, GO:0005783, extracellular exosome, perinuclear region of cytoplasm, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0046872, GO:0008081, GO:0008081, GO:0004622, metal ion binding, phosphoric diester hydrolase activity, phosphoric diester hydrolase activity, lysophospholipase activity, GO:0070291, GO:0046475, GO:0034638, N-acylethanolamine metabolic process, glycerophospholipid catabolic process, phosphatidylcholine catabolic process, 162 166 210 354 384 406 358 270 367 ENSG00000102890 chr16 67199111 67204029 + ELMO3 protein_coding The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]. 79767 GO:0005737, cytoplasm, GO:0031267, GO:0017124, GO:0005515, small GTPase binding, SH3 domain binding, protein binding, GO:0048870, GO:0016477, GO:0007015, GO:0006915, GO:0006909, cell motility, cell migration, actin filament organization, apoptotic process, phagocytosis, 49 60 73 97 86 93 97 86 52 ENSG00000102891 chr16 56565049 56568957 + MT4 protein_coding 84560 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, metal ion binding, GO:0071294, GO:0071280, GO:0071276, GO:0010273, GO:0008150, GO:0006882, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, detoxification of copper ion, biological_process, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000102893 chr16 47461123 47701523 + PHKB protein_coding Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]. 5257 GO:0005964, GO:0005886, GO:0005829, phosphorylase kinase complex, plasma membrane, cytosol, GO:0005516, GO:0005515, calmodulin binding, protein binding, GO:0006468, GO:0006091, GO:0005980, GO:0005977, protein phosphorylation, generation of precursor metabolites and energy, glycogen catabolic process, glycogen metabolic process, 356 317 413 305 405 350 320 285 275 ENSG00000102897 chr16 20899868 20925006 + LYRM1 protein_coding The protein encoded by this gene belongs to the mitochondrial leucine/tyrosine/arginine motif family of proteins. Proteins of this family are short polypeptides that contain a leucine/tyrosine/arginine motif near the N-terminus. This gene is widely expressed with high levels in omental adipose tissue of obese individuals. In adipose tissue, the protein is localized to the nucleus where it promotes preadipocyte proliferation and lowers the rate of apoptosis to regulate adipose tissue homeostasis. Overexpression of this gene in adipocytes causes abnormal mitochondrial morphology and mitochondrial dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 57149 GO:0030496, GO:0005654, midbody, nucleoplasm, 474 366 563 184 292 339 246 254 290 ENSG00000102898 chr16 67846732 67872567 + NUTF2 protein_coding This gene encodes a cytosolic factor that facilitates protein transport into the nucleus. The encoded protein is required for nuclear import of the small Ras-like GTPase, Ran which is involved in numerous cellular processes. This protein also interacts with the nuclear pore complex glycoprotein p62. [provided by RefSeq, Apr 2016]. 10204 GO:0070062, GO:0044613, GO:0031965, GO:0005829, GO:0005654, GO:0005640, GO:0005637, extracellular exosome, nuclear pore central transport channel, nuclear membrane, cytosol, nucleoplasm, nuclear outer membrane, nuclear inner membrane, GO:0061608, GO:0042802, GO:0031267, GO:0031267, GO:0017056, GO:0005515, nuclear import signal receptor activity, identical protein binding, small GTPase binding, small GTPase binding, structural constituent of nuclear pore, protein binding, GO:1904046, GO:0090204, GO:0051028, GO:0042307, GO:0006913, GO:0006611, GO:0006606, GO:0006606, negative regulation of vascular endothelial growth factor production, protein localization to nuclear pore, mRNA transport, positive regulation of protein import into nucleus, nucleocytoplasmic transport, protein export from nucleus, protein import into nucleus, protein import into nucleus, 74 56 72 73 51 61 69 65 115 ENSG00000102900 chr16 56730105 56850286 + NUP93 protein_coding The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 9688 GO:0043657, GO:0034399, GO:0031965, GO:0016020, GO:0005643, GO:0005643, GO:0005635, GO:0005635, host cell, nuclear periphery, nuclear membrane, membrane, nuclear pore, nuclear pore, nuclear envelope, nuclear envelope, GO:0017056, GO:0017056, GO:0005515, structural constituent of nuclear pore, structural constituent of nuclear pore, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0060395, GO:0060395, GO:0060391, GO:0051292, GO:0051292, GO:0019083, GO:0016973, GO:0016925, GO:0016032, GO:0006998, GO:0006606, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, SMAD protein signal transduction, SMAD protein signal transduction, positive regulation of SMAD protein signal transduction, nuclear pore complex assembly, nuclear pore complex assembly, viral transcription, poly(A)+ mRNA export from nucleus, protein sumoylation, viral process, nuclear envelope organization, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 79 87 147 91 69 107 81 59 66 ENSG00000102901 chr16 67828157 67847811 - CENPT protein_coding The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]. 80152 GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0000778, GO:0000776, GO:0000775, nuclear body, cytosol, nucleoplasm, nucleoplasm, condensed nuclear chromosome kinetochore, kinetochore, chromosome, centromeric region, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:1903394, GO:0051382, GO:0051301, GO:0051276, GO:0034080, GO:0007059, GO:0007059, GO:0000278, GO:0000278, protein localization to kinetochore involved in kinetochore assembly, kinetochore assembly, cell division, chromosome organization, CENP-A containing nucleosome assembly, chromosome segregation, chromosome segregation, mitotic cell cycle, mitotic cell cycle, 99 105 154 162 125 203 131 122 172 ENSG00000102904 chr16 67806765 67832148 + TSNAXIP1 protein_coding 55815 GO:0048471, GO:0005737, GO:0005575, perinuclear region of cytoplasm, cytoplasm, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0030154, GO:0008150, GO:0007283, GO:0007275, cell differentiation, biological_process, spermatogenesis, multicellular organism development, 18 30 27 28 35 49 19 11 19 ENSG00000102908 chr16 69565094 69704666 + NFAT5 protein_coding The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10725 GO:0005829, GO:0005667, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytosol, transcription regulator complex, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0008134, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904996, GO:1901224, GO:0071345, GO:0070884, GO:0045944, GO:0033173, GO:0007588, GO:0007165, GO:0006970, GO:0006366, GO:0006357, GO:0001816, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of NIK/NF-kappaB signaling, cellular response to cytokine stimulus, regulation of calcineurin-NFAT signaling cascade, positive regulation of transcription by RNA polymerase II, calcineurin-NFAT signaling cascade, excretion, signal transduction, response to osmotic stress, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, cytokine production, 1840 1933 2841 799 1352 1132 1083 960 1056 ENSG00000102910 chr16 48244296 48363122 + LONP2 protein_coding In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]. 83752 GO:0016020, GO:0005829, GO:0005782, GO:0005782, GO:0005777, GO:0005634, membrane, cytosol, peroxisomal matrix, peroxisomal matrix, peroxisome, nucleus, GO:0019899, GO:0008233, GO:0005524, GO:0005515, GO:0004252, GO:0004176, GO:0002020, enzyme binding, peptidase activity, ATP binding, protein binding, serine-type endopeptidase activity, ATP-dependent peptidase activity, protease binding, GO:0031998, GO:0016558, GO:0016485, GO:0016485, GO:0014070, GO:0007031, GO:0006625, GO:0006625, GO:0006625, GO:0006515, regulation of fatty acid beta-oxidation, protein import into peroxisome matrix, protein processing, protein processing, response to organic cyclic compound, peroxisome organization, protein targeting to peroxisome, protein targeting to peroxisome, protein targeting to peroxisome, protein quality control for misfolded or incompletely synthesized proteins, 459 570 674 589 694 854 689 502 622 ENSG00000102921 chr16 48538726 48620148 - N4BP1 protein_coding 9683 GO:0016605, GO:0016605, GO:0005730, GO:0005634, PML body, PML body, nucleolus, nucleus, GO:0005515, protein binding, GO:0034644, GO:0032435, GO:0032435, GO:0031397, GO:0031397, cellular response to UV, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, negative regulation of protein ubiquitination, 2740 2698 7246 1170 1962 1737 1542 1630 1561 ENSG00000102924 chr16 49277917 49281831 - CBLN1 protein_coding This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]. 869 GO:0098978, GO:0062023, GO:0045211, GO:0005576, glutamatergic synapse, collagen-containing extracellular matrix, postsynaptic membrane, extracellular region, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1905703, GO:1905606, GO:1900454, GO:0099558, GO:0090394, GO:0051965, GO:0050808, GO:0021707, GO:0009306, GO:0007399, GO:0007268, GO:0007157, negative regulation of inhibitory synapse assembly, regulation of presynapse assembly, positive regulation of long-term synaptic depression, maintenance of synapse structure, negative regulation of excitatory postsynaptic potential, positive regulation of synapse assembly, synapse organization, cerebellar granule cell differentiation, protein secretion, nervous system development, chemical synaptic transmission, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, 0 0 0 0 0 0 0 0 0 ENSG00000102931 chr16 57245098 57253635 + ARL2BP protein_coding ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]. 23568 GO:0030496, GO:0005929, GO:0005829, GO:0005819, GO:0005813, GO:0005759, GO:0005758, GO:0005758, GO:0005634, midbody, cilium, cytosol, spindle, centrosome, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial intermembrane space, nucleus, GO:0030695, GO:0005515, GO:0003713, GTPase regulator activity, protein binding, transcription coactivator activity, GO:1903508, GO:0051457, GO:0051457, GO:0050796, GO:0050790, GO:0042531, GO:0042531, GO:0007165, positive regulation of nucleic acid-templated transcription, maintenance of protein location in nucleus, maintenance of protein location in nucleus, regulation of insulin secretion, regulation of catalytic activity, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, signal transduction, 77 58 89 108 116 168 140 84 123 ENSG00000102934 chr16 57248547 57284687 - PLLP protein_coding 51090 GO:0045121, GO:0043218, GO:0016021, membrane raft, compact myelin, integral component of membrane, GO:0019911, GO:0005515, structural constituent of myelin sheath, protein binding, GO:0042552, GO:0009611, GO:0006811, myelination, response to wounding, ion transport, 64 55 74 99 96 156 121 87 115 ENSG00000102935 chr16 49487524 49857919 - ZNF423 protein_coding The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]. 23090 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0043565, GO:0005515, GO:0000981, GO:0000978, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0120163, GO:0061512, GO:0061512, GO:0060271, GO:0045893, GO:0045892, GO:0045892, GO:0030513, GO:0030154, GO:0021938, GO:0021930, GO:0007219, GO:0006357, GO:0006355, negative regulation of cold-induced thermogenesis, protein localization to cilium, protein localization to cilium, cilium assembly, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of BMP signaling pathway, cell differentiation, smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation, cerebellar granule cell precursor proliferation, Notch signaling pathway, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000102962 chr16 57358772 57366190 + CCL22 protein_coding This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]. 6367 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0008009, GO:0005515, CCR chemokine receptor binding, chemokine activity, protein binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0048247, GO:0043547, GO:0030593, GO:0019221, GO:0009615, GO:0007267, GO:0007186, GO:0007165, GO:0006955, GO:0006954, GO:0006935, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, cytokine-mediated signaling pathway, response to virus, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, immune response, inflammatory response, chemotaxis, monocyte chemotaxis, 0 0 0 0 0 0 0 0 3 ENSG00000102967 chr16 72008588 72027664 + DHODH protein_coding The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]. 1723 GO:0043025, GO:0016021, GO:0005829, GO:0005743, GO:0005743, GO:0005739, GO:0005654, neuronal cell body, integral component of membrane, cytosol, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0048039, GO:0010181, GO:0008144, GO:0005515, GO:0004152, ubiquinone binding, FMN binding, drug binding, protein binding, dihydroorotate dehydrogenase activity, GO:1903576, GO:0090140, GO:0055114, GO:0046134, GO:0044205, GO:0043065, GO:0042594, GO:0042493, GO:0031000, GO:0009220, GO:0007595, GO:0007565, GO:0006207, response to L-arginine, regulation of mitochondrial fission, oxidation-reduction process, pyrimidine nucleoside biosynthetic process, 'de novo' UMP biosynthetic process, positive regulation of apoptotic process, response to starvation, response to drug, response to caffeine, pyrimidine ribonucleotide biosynthetic process, lactation, female pregnancy, 'de novo' pyrimidine nucleobase biosynthetic process, 37 31 28 58 36 37 69 42 29 ENSG00000102970 chr16 57404767 57416062 + CCL17 protein_coding This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014]. 6361 GO:0005615, extracellular space, GO:0048020, GO:0031729, GO:0008009, GO:0005515, GO:0005102, CCR chemokine receptor binding, CCR4 chemokine receptor binding, chemokine activity, protein binding, signaling receptor binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0048247, GO:0045662, GO:0043547, GO:0030593, GO:0007275, GO:0007267, GO:0007186, GO:0006954, GO:0006935, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, negative regulation of myoblast differentiation, positive regulation of GTPase activity, neutrophil chemotaxis, multicellular organism development, cell-cell signaling, G protein-coupled receptor signaling pathway, inflammatory response, chemotaxis, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000102974 chr16 67562407 67639185 + CTCF protein_coding This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 10664 GO:0005730, GO:0005654, GO:0005634, GO:0000793, GO:0000785, GO:0000775, nucleolus, nucleoplasm, nucleus, condensed chromosome, chromatin, chromosome, centromeric region, GO:0043565, GO:0043035, GO:0043035, GO:0008270, GO:0005515, GO:0003700, GO:0003700, GO:0001227, GO:0000978, GO:0000978, GO:0000976, sequence-specific DNA binding, chromatin insulator sequence binding, chromatin insulator sequence binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071514, GO:0071459, GO:0070602, GO:0045893, GO:0045893, GO:0045893, GO:0045892, GO:0040030, GO:0040029, GO:0040029, GO:0035065, GO:0031060, GO:0016584, GO:0010628, GO:0010216, GO:0008285, GO:0007059, GO:0006357, GO:0006349, GO:0006306, GO:0000122, GO:0000122, genetic imprinting, protein localization to chromosome, centromeric region, regulation of centromeric sister chromatid cohesion, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of molecular function, epigenetic, regulation of gene expression, epigenetic, regulation of gene expression, epigenetic, regulation of histone acetylation, regulation of histone methylation, nucleosome positioning, positive regulation of gene expression, maintenance of DNA methylation, negative regulation of cell population proliferation, chromosome segregation, regulation of transcription by RNA polymerase II, regulation of gene expression by genetic imprinting, DNA methylation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 524 616 552 389 431 500 393 389 389 ENSG00000102977 chr16 67657512 67660815 - ACD protein_coding This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]. 65057 GO:0070187, GO:0070187, GO:0070187, GO:0070187, GO:0016604, GO:0005654, GO:0000783, GO:0000781, GO:0000781, shelterin complex, shelterin complex, shelterin complex, shelterin complex, nuclear body, nucleoplasm, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, GO:0070182, GO:0070182, GO:0044877, GO:0042162, GO:0042162, GO:0005515, DNA polymerase binding, DNA polymerase binding, protein-containing complex binding, telomeric DNA binding, telomeric DNA binding, protein binding, GO:0070200, GO:0070200, GO:0070198, GO:0070198, GO:0070198, GO:0060381, GO:0051973, GO:0051973, GO:0032212, GO:0032211, GO:0032211, GO:0032211, GO:0032211, GO:0032202, GO:0031848, GO:0016233, GO:0016233, GO:0016233, GO:0016233, GO:0016233, GO:0006886, GO:0000723, establishment of protein localization to telomere, establishment of protein localization to telomere, protein localization to chromosome, telomeric region, protein localization to chromosome, telomeric region, protein localization to chromosome, telomeric region, positive regulation of single-stranded telomeric DNA binding, positive regulation of telomerase activity, positive regulation of telomerase activity, positive regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, telomere assembly, protection from non-homologous end joining at telomere, telomere capping, telomere capping, telomere capping, telomere capping, telomere capping, intracellular protein transport, telomere maintenance, 131 110 133 153 183 179 126 146 134 ENSG00000102978 chr16 57462387 57472010 + POLR2C protein_coding This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]. 5432 GO:0015630, GO:0005829, GO:0005665, GO:0005665, GO:0005654, GO:0005654, GO:0005634, microtubule cytoskeleton, cytosol, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleoplasm, nucleus, GO:0046983, GO:0005515, GO:0003899, GO:0003677, protein dimerization activity, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0060964, GO:0050434, GO:0042795, GO:0035019, GO:0016070, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006351, GO:0006283, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, RNA metabolic process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, 479 339 399 254 313 296 227 304 222 ENSG00000102981 chr16 67660946 67662778 + PARD6A protein_coding This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 50855 GO:0034451, GO:0016324, GO:0005938, GO:0005923, GO:0005886, GO:0005829, GO:0005813, GO:0005634, GO:0005634, GO:0001726, centriolar satellite, apical plasma membrane, cell cortex, bicellular tight junction, plasma membrane, cytosol, centrosome, nucleus, nucleus, ruffle, GO:0031267, GO:0031267, GO:0030742, GO:0008134, GO:0005515, GO:0005080, small GTPase binding, small GTPase binding, GTP-dependent protein binding, transcription factor binding, protein binding, protein kinase C binding, GO:1904781, GO:0070830, GO:0060341, GO:0060071, GO:0051301, GO:0045217, GO:0016032, GO:0007179, GO:0007163, GO:0007098, GO:0007098, positive regulation of protein localization to centrosome, bicellular tight junction assembly, regulation of cellular localization, Wnt signaling pathway, planar cell polarity pathway, cell division, cell-cell junction maintenance, viral process, transforming growth factor beta receptor signaling pathway, establishment or maintenance of cell polarity, centrosome cycle, centrosome cycle, 27 31 34 29 27 19 19 14 12 ENSG00000102984 chr16 71859680 71895336 - ZNF821 protein_coding This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 55565 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 40 59 51 40 51 43 44 28 36 ENSG00000102996 chr16 58025566 58046901 + MMP15 protein_coding This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein may play a role in cancer progression. [provided by RefSeq, Jan 2016]. 4324 GO:0031012, GO:0005887, GO:0005886, extracellular matrix, integral component of plasma membrane, plasma membrane, GO:0070006, GO:0008270, GO:0008047, GO:0005515, GO:0004222, GO:0004222, metalloaminopeptidase activity, zinc ion binding, enzyme activator activity, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:0043085, GO:0035987, GO:0032355, GO:0030574, GO:0030574, GO:0030198, GO:0022617, GO:0006508, GO:0006464, positive regulation of catalytic activity, endodermal cell differentiation, response to estradiol, collagen catabolic process, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, proteolysis, cellular protein modification process, 1 1 2 0 0 0 0 3 3 ENSG00000103005 chr16 57999546 58021618 + USB1 protein_coding This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]. 79650 GO:0045171, GO:0005654, GO:0005634, GO:0005634, intercellular bridge, nucleoplasm, nucleus, nucleus, GO:1990838, GO:0000175, GO:0000175, poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:0090503, GO:0034477, GO:0034477, GO:0008380, RNA phosphodiester bond hydrolysis, exonucleolytic, U6 snRNA 3'-end processing, U6 snRNA 3'-end processing, RNA splicing, 1452 1301 1962 645 1126 1168 849 902 1129 ENSG00000103018 chr16 69424525 69466266 + CYB5B protein_coding 80777 GO:1903958, GO:0043231, GO:0016021, GO:0016020, GO:0016020, GO:0005741, GO:0005741, nitric-oxide synthase complex, intracellular membrane-bounded organelle, integral component of membrane, membrane, membrane, mitochondrial outer membrane, mitochondrial outer membrane, GO:0050421, GO:0046872, GO:0020037, GO:0020037, GO:0009055, GO:0008047, GO:0005515, nitrite reductase (NO-forming) activity, metal ion binding, heme binding, heme binding, electron transfer activity, enzyme activator activity, protein binding, GO:0043085, GO:0022900, GO:0006809, GO:0006805, positive regulation of catalytic activity, electron transport chain, nitric oxide biosynthetic process, xenobiotic metabolic process, 96 112 71 137 90 124 88 59 70 ENSG00000103021 chr16 58231157 58283836 + CCDC113 protein_coding 29070 GO:0036064, GO:0036064, GO:0034451, GO:0032991, GO:0005930, GO:0005737, ciliary basal body, ciliary basal body, centriolar satellite, protein-containing complex, axoneme, cytoplasm, GO:0005515, protein binding, GO:0060271, GO:0060271, cilium assembly, cilium assembly, 0 0 0 0 0 0 0 0 0 ENSG00000103023 chr16 58279997 58295047 - PRSS54 protein_coding This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 221191 GO:0005615, extracellular space, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000103024 chr16 1770286 1771730 - NME3 protein_coding 4832 GO:0005829, cytosol, GO:0046872, GO:0005524, GO:0005515, GO:0004550, metal ion binding, ATP binding, protein binding, nucleoside diphosphate kinase activity, GO:0015949, GO:0006915, GO:0006241, GO:0006228, GO:0006183, GO:0006165, nucleobase-containing small molecule interconversion, apoptotic process, CTP biosynthetic process, UTP biosynthetic process, GTP biosynthetic process, nucleoside diphosphate phosphorylation, 21 21 39 38 39 57 50 25 31 ENSG00000103034 chr16 58462846 58513628 + NDRG4 protein_coding This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]. 65009 GO:0031253, GO:0016323, GO:0005829, GO:0005789, GO:0005739, GO:0005737, GO:0005737, GO:0005737, cell projection membrane, basolateral plasma membrane, cytosol, endoplasmic reticulum membrane, mitochondrion, cytoplasm, cytoplasm, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:2001135, GO:0070374, GO:0070374, GO:0070374, GO:0060973, GO:0060038, GO:0048662, GO:0048278, GO:0035050, GO:0030154, GO:0014912, GO:0010976, GO:0010642, GO:0008542, GO:0007420, GO:0007165, GO:0001947, regulation of endocytic recycling, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, cell migration involved in heart development, cardiac muscle cell proliferation, negative regulation of smooth muscle cell proliferation, vesicle docking, embryonic heart tube development, cell differentiation, negative regulation of smooth muscle cell migration, positive regulation of neuron projection development, negative regulation of platelet-derived growth factor receptor signaling pathway, visual learning, brain development, signal transduction, heart looping, 0 1 3 1 5 2 0 3 8 ENSG00000103035 chr16 74296775 74306288 + PSMD7 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]. 5713 GO:1904813, GO:0070062, GO:0034774, GO:0016020, GO:0005838, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005576, GO:0000502, GO:0000502, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, membrane, proteasome regulatory particle, cytosol, nucleoplasm, nucleoplasm, nucleus, extracellular region, proteasome complex, proteasome complex, GO:0070122, GO:0042803, GO:0008237, GO:0005515, isopeptidase activity, protein homodimerization activity, metallopeptidase activity, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 475 450 527 335 339 338 328 260 317 ENSG00000103037 chr16 58515479 58521181 + SETD6 protein_coding This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 79918 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0051059, GO:0016279, GO:0016279, GO:0016279, GO:0005515, NF-kappaB binding, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, GO:0050727, GO:0048863, GO:0034968, GO:0032088, GO:0019827, GO:0018026, GO:0018026, regulation of inflammatory response, stem cell differentiation, histone lysine methylation, negative regulation of NF-kappaB transcription factor activity, stem cell population maintenance, peptidyl-lysine monomethylation, peptidyl-lysine monomethylation, 166 206 192 186 179 245 146 161 150 ENSG00000103042 chr16 58665109 58685104 - SLC38A7 protein_coding 55238 GO:0043025, GO:0030424, GO:0016021, neuronal cell body, axon, integral component of membrane, GO:0015194, GO:0015191, GO:0015190, GO:0015186, GO:0015186, GO:0015183, GO:0015182, GO:0015180, GO:0015179, GO:0015171, GO:0005515, GO:0005313, GO:0005290, L-serine transmembrane transporter activity, L-methionine transmembrane transporter activity, L-leucine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-aspartate transmembrane transporter activity, L-asparagine transmembrane transporter activity, L-alanine transmembrane transporter activity, L-amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, L-glutamate transmembrane transporter activity, L-histidine transmembrane transporter activity, GO:0089709, GO:0070778, GO:0015825, GO:0015821, GO:0015813, GO:0015808, GO:0015803, GO:0006868, GO:0006867, GO:0006814, GO:0003333, L-histidine transmembrane transport, L-aspartate transmembrane transport, L-serine transport, methionine transport, L-glutamate transmembrane transport, L-alanine transport, branched-chain amino acid transport, glutamine transport, asparagine transport, sodium ion transport, amino acid transmembrane transport, 4 12 13 11 17 30 15 6 16 ENSG00000103043 chr16 70687439 70801161 - VAC14 protein_coding This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]. 55697 GO:0070772, GO:0043231, GO:0031902, GO:0031901, GO:0010008, GO:0010008, GO:0005829, GO:0005783, GO:0000306, GO:0000139, PAS complex, intracellular membrane-bounded organelle, late endosome membrane, early endosome membrane, endosome membrane, endosome membrane, cytosol, endoplasmic reticulum, extrinsic component of vacuolar membrane, Golgi membrane, GO:0042802, GO:0038023, GO:0005515, identical protein binding, signaling receptor activity, protein binding, GO:0033674, GO:0016032, GO:0007165, GO:0006661, GO:0006661, positive regulation of kinase activity, viral process, signal transduction, phosphatidylinositol biosynthetic process, phosphatidylinositol biosynthetic process, 57 84 85 117 112 132 117 68 87 ENSG00000103044 chr16 69105564 69118719 + HAS3 protein_coding The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. 3038 GO:0036117, GO:0016021, GO:0005887, GO:0005886, GO:0005737, GO:0005634, hyaluranon cable, integral component of membrane, integral component of plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0050501, GO:0050501, GO:0042802, GO:0005515, hyaluronan synthase activity, hyaluronan synthase activity, identical protein binding, protein binding, GO:1900106, GO:0085029, GO:0085029, GO:0045893, GO:0045226, GO:0045226, GO:0030213, GO:0030213, GO:0030213, GO:0030213, GO:0005975, positive regulation of hyaluranon cable assembly, extracellular matrix assembly, extracellular matrix assembly, positive regulation of transcription, DNA-templated, extracellular polysaccharide biosynthetic process, extracellular polysaccharide biosynthetic process, hyaluronan biosynthetic process, hyaluronan biosynthetic process, hyaluronan biosynthetic process, hyaluronan biosynthetic process, carbohydrate metabolic process, 139 118 179 71 89 68 62 71 75 ENSG00000103047 chr16 68843604 69085180 + TANGO6 protein_coding 79613 GO:0016021, integral component of membrane, GO:0009306, protein secretion, 24 13 29 51 15 53 45 13 46 ENSG00000103051 chr16 70480568 70523565 - COG4 protein_coding The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]. 25839 GO:0032588, GO:0017119, GO:0017119, GO:0005829, GO:0000139, trans-Golgi network membrane, Golgi transport complex, Golgi transport complex, cytosol, Golgi membrane, GO:0005515, protein binding, GO:0048213, GO:0048213, GO:0015031, GO:0007030, GO:0007030, GO:0006890, GO:0006890, GO:0006888, Golgi vesicle prefusion complex stabilization, Golgi vesicle prefusion complex stabilization, protein transport, Golgi organization, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, 111 173 182 148 172 215 129 129 127 ENSG00000103056 chr16 68358325 68448688 - SMPD3 protein_coding 55512 GO:0005886, GO:0005886, GO:0005737, GO:0005576, GO:0000139, GO:0000137, plasma membrane, plasma membrane, cytoplasm, extracellular region, Golgi membrane, Golgi cis cisterna, GO:0070300, GO:0061751, GO:0046872, GO:0042802, GO:0005515, GO:0004767, GO:0004767, GO:0004620, GO:0001786, phosphatidic acid binding, neutral sphingomyelin phosphodiesterase activity, metal ion binding, identical protein binding, protein binding, sphingomyelin phosphodiesterase activity, sphingomyelin phosphodiesterase activity, phospholipase activity, phosphatidylserine binding, GO:2000304, GO:1903543, GO:1901653, GO:1900126, GO:0140052, GO:0140014, GO:0098868, GO:0097187, GO:0090520, GO:0085029, GO:0071897, GO:0071461, GO:0071356, GO:0071286, GO:0070314, GO:0070301, GO:0061035, GO:0048661, GO:0048286, GO:0048008, GO:0045840, GO:0043491, GO:0035264, GO:0032963, GO:0030509, GO:0030282, GO:0030072, GO:0015774, GO:0006687, GO:0006685, GO:0006684, GO:0006684, GO:0006672, GO:0003433, GO:0002685, GO:0002244, GO:0001958, GO:0001932, positive regulation of ceramide biosynthetic process, positive regulation of exosomal secretion, cellular response to peptide, negative regulation of hyaluronan biosynthetic process, cellular response to oxidised low-density lipoprotein particle stimulus, mitotic nuclear division, bone growth, dentinogenesis, sphingolipid mediated signaling pathway, extracellular matrix assembly, DNA biosynthetic process, cellular response to redox state, cellular response to tumor necrosis factor, cellular response to magnesium ion, G1 to G0 transition, cellular response to hydrogen peroxide, regulation of cartilage development, positive regulation of smooth muscle cell proliferation, lung alveolus development, platelet-derived growth factor receptor signaling pathway, positive regulation of mitotic nuclear division, protein kinase B signaling, multicellular organism growth, collagen metabolic process, BMP signaling pathway, bone mineralization, peptide hormone secretion, polysaccharide transport, glycosphingolipid metabolic process, sphingomyelin catabolic process, sphingomyelin metabolic process, sphingomyelin metabolic process, ceramide metabolic process, chondrocyte development involved in endochondral bone morphogenesis, regulation of leukocyte migration, hematopoietic progenitor cell differentiation, endochondral ossification, regulation of protein phosphorylation, 94 236 499 15 30 24 29 17 28 ENSG00000103061 chr16 68284503 68310946 - SLC7A6OS protein_coding 84138 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0032502, GO:0015031, GO:0002244, developmental process, protein transport, hematopoietic progenitor cell differentiation, 236 202 323 325 199 394 303 159 309 ENSG00000103064 chr16 68264516 68301823 + SLC7A6 protein_coding 9057 GO:0043231, GO:0016323, GO:0005887, GO:0005886, GO:0005886, intracellular membrane-bounded organelle, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015297, GO:0015179, GO:0015174, GO:0015171, GO:0005515, antiporter activity, L-amino acid transmembrane transporter activity, basic amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:1990822, GO:1902475, GO:0050900, GO:0015822, GO:0006865, GO:0003333, GO:0003333, basic amino acid transmembrane transport, L-alpha-amino acid transmembrane transport, leukocyte migration, ornithine transport, amino acid transport, amino acid transmembrane transport, amino acid transmembrane transport, 296 229 418 459 252 521 401 210 381 ENSG00000103066 chr16 68245304 68261062 + PLA2G15 protein_coding Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]. 23659 GO:0070062, GO:0043231, GO:0016020, GO:0005764, GO:0005764, GO:0005764, GO:0005654, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, intracellular membrane-bounded organelle, membrane, lysosome, lysosome, lysosome, nucleoplasm, extracellular space, extracellular space, extracellular region, GO:0102568, GO:0102567, GO:0102545, GO:0052740, GO:0052739, GO:0047499, GO:0047499, GO:0016411, GO:0008970, GO:0008374, GO:0008374, GO:0005543, GO:0004806, GO:0004622, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), phosphatidyl phospholipase B activity, 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, calcium-independent phospholipase A2 activity, calcium-independent phospholipase A2 activity, acylglycerol O-acyltransferase activity, phospholipase A1 activity, O-acyltransferase activity, O-acyltransferase activity, phospholipid binding, triglyceride lipase activity, lysophospholipase activity, GO:0046338, GO:0034638, GO:0009062, GO:0006672, GO:0006672, GO:0006651, GO:0006650, GO:0006644, GO:0006629, phosphatidylethanolamine catabolic process, phosphatidylcholine catabolic process, fatty acid catabolic process, ceramide metabolic process, ceramide metabolic process, diacylglycerol biosynthetic process, glycerophospholipid metabolic process, phospholipid metabolic process, lipid metabolic process, 11 42 16 31 59 38 25 42 13 ENSG00000103067 chr16 68229111 68238102 - ESRP2 protein_coding ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]. 80004 GO:1990904, GO:0005654, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0003729, GO:0003729, GO:0003723, GO:0003723, mRNA binding, mRNA binding, RNA binding, RNA binding, GO:0060445, GO:0060441, GO:0050679, GO:0043484, GO:0043484, GO:0008543, GO:0000380, branching involved in salivary gland morphogenesis, epithelial tube branching involved in lung morphogenesis, positive regulation of epithelial cell proliferation, regulation of RNA splicing, regulation of RNA splicing, fibroblast growth factor receptor signaling pathway, alternative mRNA splicing, via spliceosome, 4 16 6 5 14 11 11 8 5 ENSG00000103089 chr16 74712955 74774831 - FA2H protein_coding This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]. 79152 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0080132, GO:0080132, GO:0080132, GO:0080132, GO:0020037, GO:0005515, GO:0005506, fatty acid alpha-hydroxylase activity, fatty acid alpha-hydroxylase activity, fatty acid alpha-hydroxylase activity, fatty acid alpha-hydroxylase activity, heme binding, protein binding, iron ion binding, GO:0061436, GO:0055114, GO:0046513, GO:0044857, GO:0042634, GO:0042127, GO:0032287, GO:0032286, GO:0030258, GO:0030148, GO:0006682, GO:0006682, GO:0006679, GO:0006633, GO:0006631, GO:0001949, establishment of skin barrier, oxidation-reduction process, ceramide biosynthetic process, plasma membrane raft organization, regulation of hair cycle, regulation of cell population proliferation, peripheral nervous system myelin maintenance, central nervous system myelin maintenance, lipid modification, sphingolipid biosynthetic process, galactosylceramide biosynthetic process, galactosylceramide biosynthetic process, glucosylceramide biosynthetic process, fatty acid biosynthetic process, fatty acid metabolic process, sebaceous gland cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000103091 chr16 74871367 75000173 - WDR59 protein_coding 79726 GO:0061700, GO:0005765, GATOR2 complex, lysosomal membrane, GO:0005515, protein binding, GO:0034198, GO:0032008, cellular response to amino acid starvation, positive regulation of TOR signaling, 181 148 202 297 208 210 293 169 177 ENSG00000103111 chr16 77190835 77202405 + MON1B protein_coding 22879 GO:0035658, GO:0005737, Mon1-Ccz1 complex, cytoplasm, GO:0005515, protein binding, GO:0019086, GO:0019085, GO:0016192, GO:0006623, late viral transcription, early viral transcription, vesicle-mediated transport, protein targeting to vacuole, 1573 1810 2453 1551 2186 3107 1628 1561 2293 ENSG00000103121 chr16 80966448 81020270 - CMC2 protein_coding 56942 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0005515, protein binding, 89 123 83 103 83 79 83 79 71 ENSG00000103126 chr16 287440 352673 - AXIN1 protein_coding This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 8312 GO:0071944, GO:0048471, GO:0031410, GO:0030877, GO:0016328, GO:0005829, GO:0005737, GO:0005634, cell periphery, perinuclear region of cytoplasm, cytoplasmic vesicle, beta-catenin destruction complex, lateral plasma membrane, cytosol, cytoplasm, nucleus, GO:0070411, GO:0070016, GO:0060090, GO:0060090, GO:0046332, GO:0042803, GO:0042802, GO:0042802, GO:0035591, GO:0035591, GO:0031625, GO:0019901, GO:0019899, GO:0008013, GO:0005515, I-SMAD binding, armadillo repeat domain binding, molecular adaptor activity, molecular adaptor activity, SMAD binding, protein homodimerization activity, identical protein binding, identical protein binding, signaling adaptor activity, signaling adaptor activity, ubiquitin protein ligase binding, protein kinase binding, enzyme binding, beta-catenin binding, protein binding, GO:2000060, GO:1904886, GO:1904885, GO:0090263, GO:0090090, GO:0090090, GO:0090090, GO:0051443, GO:0046330, GO:0045893, GO:0045732, GO:0045732, GO:0034622, GO:0033146, GO:0033138, GO:0032147, GO:0031398, GO:0030111, GO:0016055, GO:0010800, GO:0007275, GO:0006915, GO:0001934, positive regulation of ubiquitin-dependent protein catabolic process, beta-catenin destruction complex disassembly, beta-catenin destruction complex assembly, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, positive regulation of ubiquitin-protein transferase activity, positive regulation of JNK cascade, positive regulation of transcription, DNA-templated, positive regulation of protein catabolic process, positive regulation of protein catabolic process, cellular protein-containing complex assembly, regulation of intracellular estrogen receptor signaling pathway, positive regulation of peptidyl-serine phosphorylation, activation of protein kinase activity, positive regulation of protein ubiquitination, regulation of Wnt signaling pathway, Wnt signaling pathway, positive regulation of peptidyl-threonine phosphorylation, multicellular organism development, apoptotic process, positive regulation of protein phosphorylation, 661 628 734 398 557 557 474 413 377 ENSG00000103145 chr16 3022620 3024286 - HCFC1R1 protein_coding 54985 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, 23 33 18 45 48 65 39 35 32 ENSG00000103148 chr16 84271 138860 - NPRL3 protein_coding The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]. 8131 GO:1990130, GO:1990130, GO:0005765, GATOR1 complex, GATOR1 complex, lysosomal membrane, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:2000785, GO:0048738, GO:0043547, GO:0038202, GO:0035909, GO:0034198, GO:0034198, GO:0032007, GO:0032007, GO:0003281, regulation of autophagosome assembly, cardiac muscle tissue development, positive regulation of GTPase activity, TORC1 signaling, aorta morphogenesis, cellular response to amino acid starvation, cellular response to amino acid starvation, negative regulation of TOR signaling, negative regulation of TOR signaling, ventricular septum development, 28 54 46 76 37 87 54 48 70 ENSG00000103150 chr16 83899126 83927026 + MLYCD protein_coding The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]. 23417 GO:0005829, GO:0005782, GO:0005782, GO:0005782, GO:0005777, GO:0005759, GO:0005759, GO:0005739, GO:0005737, cytosol, peroxisomal matrix, peroxisomal matrix, peroxisomal matrix, peroxisome, mitochondrial matrix, mitochondrial matrix, mitochondrion, cytoplasm, GO:0050080, GO:0050080, GO:0050080, GO:0042802, malonyl-CoA decarboxylase activity, malonyl-CoA decarboxylase activity, malonyl-CoA decarboxylase activity, identical protein binding, GO:2001294, GO:2001294, GO:0046321, GO:0046321, GO:0031998, GO:0019395, GO:0010906, GO:0006637, GO:0006633, GO:0006625, GO:0006085, GO:0006085, GO:0006085, GO:0002931, malonyl-CoA catabolic process, malonyl-CoA catabolic process, positive regulation of fatty acid oxidation, positive regulation of fatty acid oxidation, regulation of fatty acid beta-oxidation, fatty acid oxidation, regulation of glucose metabolic process, acyl-CoA metabolic process, fatty acid biosynthetic process, protein targeting to peroxisome, acetyl-CoA biosynthetic process, acetyl-CoA biosynthetic process, acetyl-CoA biosynthetic process, response to ischemia, 70 95 63 67 81 100 90 67 51 ENSG00000103152 chr16 77007 85853 + MPG protein_coding 4350 GO:0042645, GO:0005829, GO:0005654, GO:0005654, mitochondrial nucleoid, cytosol, nucleoplasm, nucleoplasm, GO:0052822, GO:0052821, GO:0043916, GO:0019104, GO:0008725, GO:0005515, GO:0003905, GO:0003684, DNA-3-methylguanine glycosylase activity, DNA-7-methyladenine glycosylase activity, DNA-7-methylguanine glycosylase activity, DNA N-glycosylase activity, DNA-3-methyladenine glycosylase activity, protein binding, alkylbase DNA N-glycosylase activity, damaged DNA binding, GO:0045007, GO:0006307, GO:0006284, depurination, DNA dealkylation involved in DNA repair, base-excision repair, 45 64 49 32 46 59 34 38 40 ENSG00000103154 chr16 83968632 84002776 + NECAB2 protein_coding The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016]. 54550 GO:0030425, GO:0030424, GO:0005886, GO:0005737, dendrite, axon, plasma membrane, cytoplasm, GO:0031802, GO:0031687, GO:0005515, GO:0005509, type 5 metabotropic glutamate receptor binding, A2A adenosine receptor binding, protein binding, calcium ion binding, GO:1905477, GO:1904021, GO:1900451, GO:0070374, GO:0060168, GO:0042984, positive regulation of protein localization to membrane, negative regulation of G protein-coupled receptor internalization, positive regulation of glutamate receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of adenosine receptor signaling pathway, regulation of amyloid precursor protein biosynthetic process, 151 238 154 51 249 106 73 146 106 ENSG00000103160 chr16 84122146 84145192 - HSDL1 protein_coding 83693 GO:0045111, GO:0043231, GO:0005739, GO:0005739, intermediate filament cytoskeleton, intracellular membrane-bounded organelle, mitochondrion, mitochondrion, GO:0016229, GO:0005515, steroid dehydrogenase activity, protein binding, GO:0055114, oxidation-reduction process, 125 182 127 120 175 155 90 125 86 ENSG00000103168 chr16 84177847 84187070 - TAF1C protein_coding Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]. 9013 GO:0005730, GO:0005654, GO:0005654, GO:0001650, GO:0001650, nucleolus, nucleoplasm, nucleoplasm, fibrillar center, fibrillar center, GO:0005515, GO:0001181, GO:0001164, GO:0001164, protein binding, RNA polymerase I general transcription initiation factor activity, RNA polymerase I core promoter sequence-specific DNA binding, RNA polymerase I core promoter sequence-specific DNA binding, GO:0045815, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006361, GO:0006360, GO:0001188, positive regulation of gene expression, epigenetic, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription by RNA polymerase I, RNA polymerase I preinitiation complex assembly, 104 132 124 177 208 142 151 125 143 ENSG00000103174 chr16 5024844 5034141 - NAGPA protein_coding Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]. 51172 GO:0032580, GO:0016021, Golgi cisterna membrane, integral component of membrane, GO:0005515, GO:0003944, protein binding, N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity, GO:0033299, GO:0007040, GO:0006622, GO:0006486, GO:0006464, GO:0005975, secretion of lysosomal enzymes, lysosome organization, protein targeting to lysosome, protein glycosylation, cellular protein modification process, carbohydrate metabolic process, 8 11 25 24 20 55 13 11 33 ENSG00000103175 chr16 84294646 84329851 + WFDC1 protein_coding This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 58189 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0004867, GO:0003674, serine-type endopeptidase inhibitor activity, molecular_function, GO:0061045, GO:0050728, GO:0050680, GO:0042493, GO:0032355, GO:0030308, GO:0010951, GO:0001558, negative regulation of wound healing, negative regulation of inflammatory response, negative regulation of epithelial cell proliferation, response to drug, response to estradiol, negative regulation of cell growth, negative regulation of endopeptidase activity, regulation of cell growth, 0 0 0 3 0 0 1 0 0 ENSG00000103184 chr16 4958317 5019158 + SEC14L5 protein_coding 9717 GO:0005515, protein binding, 0 0 0 0 0 10 0 1 0 ENSG00000103187 chr16 84565594 84618077 - COTL1 protein_coding This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]. 23406 GO:1904813, GO:0070062, GO:0034774, GO:0030864, GO:0005886, GO:0005884, GO:0005829, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, cortical actin cytoskeleton, plasma membrane, actin filament, cytosol, nucleus, extracellular region, GO:0051015, GO:0019899, GO:0005515, GO:0003779, actin filament binding, enzyme binding, protein binding, actin binding, GO:0050832, GO:0043312, GO:0030833, GO:0008150, defense response to fungus, neutrophil degranulation, regulation of actin filament polymerization, biological_process, 13431 11871 18046 3409 7631 5282 4884 7524 5719 ENSG00000103194 chr16 84699978 84779922 + USP10 protein_coding Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]. 9100 GO:0032991, GO:0005829, GO:0005829, GO:0005829, GO:0005769, GO:0005769, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, cytosol, cytosol, cytosol, early endosome, early endosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0044325, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004843, GO:0004197, GO:0004197, GO:0003723, GO:0002039, ion channel binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, RNA binding, p53 binding, GO:0071347, GO:0043124, GO:0030330, GO:0030330, GO:0019985, GO:0016579, GO:0016579, GO:0016579, GO:0016579, GO:0010506, GO:0010506, GO:0006974, GO:0006914, GO:0006511, cellular response to interleukin-1, negative regulation of I-kappaB kinase/NF-kappaB signaling, DNA damage response, signal transduction by p53 class mediator, DNA damage response, signal transduction by p53 class mediator, translesion synthesis, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, regulation of autophagy, regulation of autophagy, cellular response to DNA damage stimulus, autophagy, ubiquitin-dependent protein catabolic process, 2742 2280 2995 839 1600 976 1189 1588 1039 ENSG00000103196 chr16 84819984 84920768 + CRISPLD2 protein_coding 83716 GO:1904813, GO:0070062, GO:0034774, GO:0031012, GO:0030133, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, extracellular matrix, transport vesicle, extracellular space, extracellular region, GO:0008201, GO:0005539, heparin binding, glycosaminoglycan binding, GO:0060325, GO:0043312, GO:0030324, GO:0030198, face morphogenesis, neutrophil degranulation, lung development, extracellular matrix organization, 1507 1230 1333 542 887 739 810 725 764 ENSG00000103197 chr16 2047465 2089487 + TSC2 protein_coding Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 7249 GO:0048471, GO:0033596, GO:0033596, GO:0016020, GO:0014069, GO:0014069, GO:0005829, GO:0005829, GO:0005794, GO:0005794, GO:0005764, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005634, perinuclear region of cytoplasm, TSC1-TSC2 complex, TSC1-TSC2 complex, membrane, postsynaptic density, postsynaptic density, cytosol, cytosol, Golgi apparatus, Golgi apparatus, lysosome, cytoplasm, cytoplasm, cytoplasm, nucleus, nucleus, GO:0051879, GO:0042803, GO:0031267, GO:0019902, GO:0005515, GO:0005096, GO:0005096, Hsp90 protein binding, protein homodimerization activity, small GTPase binding, phosphatase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1901525, GO:0051898, GO:0051898, GO:0051726, GO:0051056, GO:0050918, GO:0048009, GO:0046627, GO:0046626, GO:0043547, GO:0043491, GO:0043276, GO:0032007, GO:0032007, GO:0030178, GO:0030100, GO:0016239, GO:0016192, GO:0016032, GO:0014067, GO:0008285, GO:0008104, GO:0007507, GO:0006897, GO:0006606, GO:0006469, GO:0001843, negative regulation of mitophagy, negative regulation of protein kinase B signaling, negative regulation of protein kinase B signaling, regulation of cell cycle, regulation of small GTPase mediated signal transduction, positive chemotaxis, insulin-like growth factor receptor signaling pathway, negative regulation of insulin receptor signaling pathway, regulation of insulin receptor signaling pathway, positive regulation of GTPase activity, protein kinase B signaling, anoikis, negative regulation of TOR signaling, negative regulation of TOR signaling, negative regulation of Wnt signaling pathway, regulation of endocytosis, positive regulation of macroautophagy, vesicle-mediated transport, viral process, negative regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cell population proliferation, protein localization, heart development, endocytosis, protein import into nucleus, negative regulation of protein kinase activity, neural tube closure, 791 813 760 713 940 692 843 696 704 ENSG00000103199 chr16 4748239 4767624 - ZNF500 protein_coding 26048 GO:0005829, GO:0005654, GO:0000785, cytosol, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 3 14 5 27 5 11 14 18 22 ENSG00000103200 chr7 140435316 140435787 - AC069335.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000103202 chr16 396725 410367 + NME4 protein_coding The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]. 4833 GO:0005759, GO:0005758, GO:0005743, GO:0005739, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, GO:1901612, GO:0046872, GO:0005524, GO:0005515, GO:0004550, cardiolipin binding, metal ion binding, ATP binding, protein binding, nucleoside diphosphate kinase activity, GO:0015949, GO:0009116, GO:0006869, GO:0006241, GO:0006228, GO:0006183, GO:0006165, nucleobase-containing small molecule interconversion, nucleoside metabolic process, lipid transport, CTP biosynthetic process, UTP biosynthetic process, GTP biosynthetic process, nucleoside diphosphate phosphorylation, 12 32 49 37 30 53 35 31 61 ENSG00000103222 chr16 15949577 16143074 + ABCC1 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]. 4363 GO:0070062, GO:0016328, GO:0016324, GO:0016323, GO:0016323, GO:0016323, GO:0016020, GO:0016020, GO:0009925, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, basolateral plasma membrane, membrane, membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0140359, GO:0042910, GO:0042910, GO:0042910, GO:0042626, GO:0042626, GO:0034634, GO:0034634, GO:0034040, GO:0016887, GO:0015562, GO:0015562, GO:0015431, GO:0015420, GO:0008559, GO:0005524, ABC-type transmembrane transporter activity, xenobiotic transmembrane transporter activity, xenobiotic transmembrane transporter activity, xenobiotic transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, glutathione transmembrane transporter activity, glutathione transmembrane transporter activity, ATPase-coupled lipid transmembrane transporter activity, ATPase activity, efflux transmembrane transporter activity, efflux transmembrane transporter activity, ATPase-coupled glutathione S-conjugate transmembrane transporter activity, ATPase-coupled vitamin B12 transmembrane transporter activity, ATPase-coupled xenobiotic transmembrane transporter activity, ATP binding, GO:1904646, GO:0150104, GO:0140115, GO:0140115, GO:0099039, GO:0071716, GO:0070633, GO:0060326, GO:0055085, GO:0055085, GO:0050729, GO:0045332, GO:0042908, GO:0042493, GO:0034775, GO:0015889, GO:0009235, GO:0006691, cellular response to amyloid-beta, transport across blood-brain barrier, export across plasma membrane, export across plasma membrane, sphingolipid translocation, leukotriene transport, transepithelial transport, cell chemotaxis, transmembrane transport, transmembrane transport, positive regulation of inflammatory response, phospholipid translocation, xenobiotic transport, response to drug, glutathione transmembrane transport, cobalamin transport, cobalamin metabolic process, leukotriene metabolic process, 34 66 72 29 50 68 43 42 18 ENSG00000103226 chr16 16232495 16294814 + NOMO3 protein_coding This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008]. 408050 GO:0016021, GO:0005789, GO:0005575, integral component of membrane, endoplasmic reticulum membrane, cellular_component, GO:0030246, GO:0005515, GO:0003674, carbohydrate binding, protein binding, molecular_function, GO:1900108, GO:0008150, negative regulation of nodal signaling pathway, biological_process, 5 5 2 2 15 6 4 21 2 ENSG00000103227 chr16 853634 981318 - LMF1 protein_coding 64788 GO:0016021, GO:0005794, GO:0005789, GO:0005789, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0090207, GO:0090181, GO:0051604, GO:0051006, GO:0051004, GO:0034382, GO:0033578, GO:0009306, GO:0006888, GO:0006641, regulation of triglyceride metabolic process, regulation of cholesterol metabolic process, protein maturation, positive regulation of lipoprotein lipase activity, regulation of lipoprotein lipase activity, chylomicron remnant clearance, protein glycosylation in Golgi, protein secretion, endoplasmic reticulum to Golgi vesicle-mediated transport, triglyceride metabolic process, 24 16 21 52 9 15 19 12 42 ENSG00000103241 chr16 86510527 86515418 + FOXF1 protein_coding This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]. 2294 GO:0005667, GO:0005634, GO:0005634, GO:0000785, transcription regulator complex, nucleus, nucleus, chromatin, GO:0043565, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0098609, GO:0097070, GO:0090131, GO:0072189, GO:0071407, GO:0071345, GO:0061030, GO:0060841, GO:0060463, GO:0060461, GO:0060441, GO:0060438, GO:0060426, GO:0051145, GO:0050728, GO:0048617, GO:0048613, GO:0048565, GO:0048557, GO:0048371, GO:0048286, GO:0045944, GO:0045893, GO:0045198, GO:0043305, GO:0031016, GO:0030335, GO:0030324, GO:0030323, GO:0030198, GO:0014822, GO:0010811, GO:0009887, GO:0007507, GO:0007494, GO:0007368, GO:0007224, GO:0006357, GO:0003214, GO:0003197, GO:0002053, GO:0001763, GO:0001756, GO:0001701, GO:0001570, GO:0001568, GO:0000122, cell-cell adhesion, ductus arteriosus closure, mesenchyme migration, ureter development, cellular response to organic cyclic compound, cellular response to cytokine stimulus, epithelial cell differentiation involved in mammary gland alveolus development, venous blood vessel development, lung lobe morphogenesis, right lung morphogenesis, epithelial tube branching involved in lung morphogenesis, trachea development, lung vasculature development, smooth muscle cell differentiation, negative regulation of inflammatory response, embryonic foregut morphogenesis, embryonic ectodermal digestive tract morphogenesis, digestive tract development, embryonic digestive tract morphogenesis, lateral mesodermal cell differentiation, lung alveolus development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, establishment of epithelial cell apical/basal polarity, negative regulation of mast cell degranulation, pancreas development, positive regulation of cell migration, lung development, respiratory tube development, extracellular matrix organization, detection of wounding, positive regulation of cell-substrate adhesion, animal organ morphogenesis, heart development, midgut development, determination of left/right symmetry, smoothened signaling pathway, regulation of transcription by RNA polymerase II, cardiac left ventricle morphogenesis, endocardial cushion development, positive regulation of mesenchymal cell proliferation, morphogenesis of a branching structure, somitogenesis, in utero embryonic development, vasculogenesis, blood vessel development, negative regulation of transcription by RNA polymerase II, 0 0 0 2 0 0 0 0 0 ENSG00000103245 chr16 729753 741329 - CIAO3 protein_coding 64428 GO:0097361, GO:0097361, CIA complex, CIA complex, GO:0051539, GO:0046872, GO:0005515, 4 iron, 4 sulfur cluster binding, metal ion binding, protein binding, GO:0032364, GO:0016226, GO:0016226, GO:0010468, GO:0002244, GO:0001666, oxygen homeostasis, iron-sulfur cluster assembly, iron-sulfur cluster assembly, regulation of gene expression, hematopoietic progenitor cell differentiation, response to hypoxia, 44 61 62 68 103 124 64 87 115 ENSG00000103248 chr16 86530176 86555235 - MTHFSD protein_coding 64779 GO:0005737, cytoplasm, GO:0003723, RNA binding, 67 69 101 70 97 88 62 65 71 ENSG00000103249 chr16 1444934 1475580 - CLCN7 protein_coding The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]. 1186 GO:0043231, GO:0031410, GO:0016021, GO:0016020, GO:0005765, GO:0005765, GO:0005654, intracellular membrane-bounded organelle, cytoplasmic vesicle, integral component of membrane, membrane, lysosomal membrane, lysosomal membrane, nucleoplasm, GO:0015297, GO:0015108, GO:0005524, GO:0005515, GO:0005254, GO:0005247, antiporter activity, chloride transmembrane transporter activity, ATP binding, protein binding, chloride channel activity, voltage-gated chloride channel activity, GO:1902476, GO:0034220, GO:0009268, chloride transmembrane transport, ion transmembrane transport, response to pH, 491 849 536 1512 1874 1438 1389 1238 969 ENSG00000103253 chr16 726936 735525 + HAGHL protein_coding 84264 GO:0046872, GO:0016787, GO:0005515, metal ion binding, hydrolase activity, protein binding, 17 22 31 39 26 37 51 28 50 ENSG00000103254 chr16 720581 722601 + FAM173A protein_coding 65990 GO:0031966, GO:0016021, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, mitochondrion, mitochondrion, GO:0016279, GO:0016279, GO:0005515, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, GO:1905706, GO:1905273, GO:0018023, GO:0018023, regulation of mitochondrial ATP synthesis coupled proton transport, positive regulation of proton-transporting ATP synthase activity, rotational mechanism, peptidyl-lysine trimethylation, peptidyl-lysine trimethylation, 9 8 2 16 10 9 5 23 16 ENSG00000103257 chr16 87830023 87869488 - SLC7A5 protein_coding 8140 GO:1990184, GO:0098591, GO:0070062, GO:0043231, GO:0031528, GO:0016324, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0009925, GO:0005886, GO:0005886, GO:0005829, GO:0005765, amino acid transport complex, external side of apical plasma membrane, extracellular exosome, intracellular membrane-bounded organelle, microvillus membrane, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, basal plasma membrane, plasma membrane, plasma membrane, cytosol, lysosomal membrane, GO:0042605, GO:0015349, GO:0015196, GO:0015190, GO:0015190, GO:0015179, GO:0015175, GO:0015175, GO:0015173, GO:0015171, GO:0015171, GO:0015171, GO:0005515, peptide antigen binding, thyroid hormone transmembrane transporter activity, L-tryptophan transmembrane transporter activity, L-leucine transmembrane transporter activity, L-leucine transmembrane transporter activity, L-amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, aromatic amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:1904556, GO:1903801, GO:1903801, GO:1902475, GO:0150104, GO:0098713, GO:0098713, GO:0089718, GO:0089718, GO:0089718, GO:0070327, GO:0050900, GO:0042908, GO:0032753, GO:0032740, GO:0032729, GO:0015823, GO:0015804, GO:0010629, GO:0003333, GO:0002720, L-tryptophan transmembrane transport, L-leucine import across plasma membrane, L-leucine import across plasma membrane, L-alpha-amino acid transmembrane transport, transport across blood-brain barrier, leucine import across plasma membrane, leucine import across plasma membrane, amino acid import across plasma membrane, amino acid import across plasma membrane, amino acid import across plasma membrane, thyroid hormone transport, leukocyte migration, xenobiotic transport, positive regulation of interleukin-4 production, positive regulation of interleukin-17 production, positive regulation of interferon-gamma production, phenylalanine transport, neutral amino acid transport, negative regulation of gene expression, amino acid transmembrane transport, positive regulation of cytokine production involved in immune response, 315 366 940 249 156 423 247 165 287 ENSG00000103260 chr16 715115 719655 + METRN protein_coding Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]. 79006 GO:0005615, extracellular space, GO:0005179, hormone activity, GO:0050772, GO:0010001, GO:0007165, positive regulation of axonogenesis, glial cell differentiation, signal transduction, 6 2 4 10 7 12 17 6 7 ENSG00000103264 chr16 87326987 87392142 - FBXO31 protein_coding This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 79791 GO:0043025, GO:0019005, GO:0019005, GO:0005829, GO:0005813, neuronal cell body, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, centrosome, GO:0030332, GO:0005515, cyclin binding, protein binding, GO:2001224, GO:0050775, GO:0043687, GO:0031571, GO:0031146, GO:0031146, GO:0031145, GO:0006974, GO:0000209, positive regulation of neuron migration, positive regulation of dendrite morphogenesis, post-translational protein modification, mitotic G1 DNA damage checkpoint, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, cellular response to DNA damage stimulus, protein polyubiquitination, 20 17 45 43 15 41 38 23 48 ENSG00000103266 chr16 680224 682870 + STUB1 protein_coding This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]. 10273 GO:0101031, GO:0042405, GO:0031371, GO:0030018, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0000151, chaperone complex, nuclear inclusion body, ubiquitin conjugating enzyme complex, Z disc, cytosol, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0061630, GO:0061630, GO:0061630, GO:0051879, GO:0051787, GO:0051087, GO:0051087, GO:0048156, GO:0046332, GO:0046332, GO:0042803, GO:0042803, GO:0034450, GO:0031625, GO:0031072, GO:0030911, GO:0030674, GO:0030544, GO:0030544, GO:0019900, GO:0019899, GO:0005515, GO:0004842, GO:0004842, GO:0004842, GO:0001664, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, Hsp90 protein binding, misfolded protein binding, chaperone binding, chaperone binding, tau protein binding, SMAD binding, SMAD binding, protein homodimerization activity, protein homodimerization activity, ubiquitin-ubiquitin ligase activity, ubiquitin protein ligase binding, heat shock protein binding, TPR domain binding, protein-macromolecule adaptor activity, Hsp70 protein binding, Hsp70 protein binding, kinase binding, enzyme binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, G protein-coupled receptor binding, GO:0090035, GO:0071456, GO:0071218, GO:0071218, GO:0070534, GO:0061684, GO:0051865, GO:0051604, GO:0051443, GO:0045862, GO:0043161, GO:0043161, GO:0043161, GO:0043161, GO:0038128, GO:0034605, GO:0032436, GO:0032091, GO:0031943, GO:0031647, GO:0031398, GO:0030968, GO:0030579, GO:0030512, GO:0030512, GO:0030433, GO:0016567, GO:0016567, GO:0006515, GO:0006515, GO:0006511, GO:0006511, GO:0006511, GO:0006281, GO:0002931, GO:0000209, GO:0000209, GO:0000209, positive regulation of chaperone-mediated protein complex assembly, cellular response to hypoxia, cellular response to misfolded protein, cellular response to misfolded protein, protein K63-linked ubiquitination, chaperone-mediated autophagy, protein autoubiquitination, protein maturation, positive regulation of ubiquitin-protein transferase activity, positive regulation of proteolysis, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, ERBB2 signaling pathway, cellular response to heat, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein binding, regulation of glucocorticoid metabolic process, regulation of protein stability, positive regulation of protein ubiquitination, endoplasmic reticulum unfolded protein response, ubiquitin-dependent SMAD protein catabolic process, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, protein ubiquitination, protein quality control for misfolded or incompletely synthesized proteins, protein quality control for misfolded or incompletely synthesized proteins, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, DNA repair, response to ischemia, protein polyubiquitination, protein polyubiquitination, protein polyubiquitination, 258 254 260 190 295 305 219 226 198 ENSG00000103269 chr16 675666 678268 + RHBDL1 protein_coding This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 9028 GO:0016020, GO:0005887, membrane, integral component of plasma membrane, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0007165, GO:0006508, signal transduction, proteolysis, 15 17 31 26 20 13 10 17 16 ENSG00000103274 chr16 10743786 10769351 + NUBP1 protein_coding NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008]. 4682 GO:0005929, GO:0005886, GO:0005829, GO:0005829, GO:0005814, GO:0005634, cilium, plasma membrane, cytosol, cytosol, centriole, nucleus, GO:0051539, GO:0051536, GO:0051536, GO:0046872, GO:0005524, GO:0005515, GO:0000166, 4 iron, 4 sulfur cluster binding, iron-sulfur cluster binding, iron-sulfur cluster binding, metal ion binding, ATP binding, protein binding, nucleotide binding, GO:0072697, GO:0051642, GO:0030030, GO:0016226, GO:0016226, GO:0010826, GO:0006879, GO:0001558, protein localization to cell cortex, centrosome localization, cell projection organization, iron-sulfur cluster assembly, iron-sulfur cluster assembly, negative regulation of centrosome duplication, cellular iron ion homeostasis, regulation of cell growth, 40 41 60 72 50 87 62 55 46 ENSG00000103275 chr16 1308880 1327018 + UBE2I protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 7329 GO:1990356, GO:1990356, GO:1990234, GO:0016605, GO:0005829, GO:0005737, GO:0005654, GO:0005635, GO:0005634, GO:0005634, GO:0005634, GO:0000795, sumoylated E2 ligase complex, sumoylated E2 ligase complex, transferase complex, PML body, cytosol, cytoplasm, nucleoplasm, nuclear envelope, nucleus, nucleus, nucleus, synaptonemal complex, GO:0071535, GO:0061656, GO:0061656, GO:0044388, GO:0043398, GO:0019899, GO:0019789, GO:0019789, GO:0008134, GO:0005524, GO:0005515, GO:0003723, GO:0001221, RING-like zinc finger domain binding, SUMO conjugating enzyme activity, SUMO conjugating enzyme activity, small protein activating enzyme binding, HLH domain binding, enzyme binding, SUMO transferase activity, SUMO transferase activity, transcription factor binding, ATP binding, protein binding, RNA binding, transcription cofactor binding, GO:1903755, GO:0051301, GO:0045892, GO:0043123, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016032, GO:0007059, GO:0007049, GO:0006511, GO:0006464, GO:0000122, GO:0000122, positive regulation of SUMO transferase activity, cell division, negative regulation of transcription, DNA-templated, positive regulation of I-kappaB kinase/NF-kappaB signaling, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, viral process, chromosome segregation, cell cycle, ubiquitin-dependent protein catabolic process, cellular protein modification process, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 480 458 625 432 524 544 392 484 541 ENSG00000103310 chr16 21197450 21214510 - ZP2 protein_coding The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation development. The glycosylated mature peptide is one of the structural components of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. Female mice lacking this gene do not form a stable zona matrix and are sterile. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 7783 GO:0062023, GO:0035805, GO:0016021, GO:0005886, GO:0005783, GO:0005771, GO:0005576, collagen-containing extracellular matrix, egg coat, integral component of membrane, plasma membrane, endoplasmic reticulum, multivesicular body, extracellular region, GO:0042802, GO:0035804, GO:0032190, GO:0015026, GO:0005515, identical protein binding, structural constituent of egg coat, acrosin binding, coreceptor activity, protein binding, GO:0060468, GO:0060046, GO:0007339, GO:0007339, prevention of polyspermy, regulation of acrosome reaction, binding of sperm to zona pellucida, binding of sperm to zona pellucida, 0 0 0 0 0 0 0 0 0 ENSG00000103313 chr16 3242028 3256627 - MEFV protein_coding This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]. 4210 GO:0031410, GO:0030027, GO:0005875, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005776, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001726, cytoplasmic vesicle, lamellipodium, microtubule associated complex, microtubule, cytosol, cytosol, cytosol, autophagosome, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, ruffle, GO:0061630, GO:0042802, GO:0008270, GO:0005515, GO:0003779, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, protein binding, actin binding, GO:2001056, GO:1900226, GO:1900016, GO:0071641, GO:0050728, GO:0045087, GO:0034341, GO:0032695, GO:0032691, GO:0016567, GO:0010508, GO:0010468, GO:0006954, positive regulation of cysteine-type endopeptidase activity, negative regulation of NLRP3 inflammasome complex assembly, negative regulation of cytokine production involved in inflammatory response, negative regulation of macrophage inflammatory protein 1 alpha production, negative regulation of inflammatory response, innate immune response, response to interferon-gamma, negative regulation of interleukin-12 production, negative regulation of interleukin-1 beta production, protein ubiquitination, positive regulation of autophagy, regulation of gene expression, inflammatory response, 7206 7239 9995 2781 4291 3077 3242 3237 2847 ENSG00000103316 chr16 21238874 21303083 - CRYM protein_coding Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]. 1428 GO:0070062, GO:0005829, GO:0005782, GO:0005739, GO:0005737, GO:0005737, GO:0005634, extracellular exosome, cytosol, peroxisomal matrix, mitochondrion, cytoplasm, cytoplasm, nucleus, GO:0070324, GO:0070324, GO:0070324, GO:0050661, GO:0047127, GO:0042803, GO:0042562, GO:0005515, GO:0003714, thyroid hormone binding, thyroid hormone binding, thyroid hormone binding, NADP binding, thiomorpholine-carboxylate dehydrogenase activity, protein homodimerization activity, hormone binding, protein binding, transcription corepressor activity, GO:0070327, GO:0055114, GO:0042403, GO:0007605, GO:0006554, GO:0000122, thyroid hormone transport, oxidation-reduction process, thyroid hormone metabolic process, sensory perception of sound, lysine catabolic process, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 6 3 0 0 ENSG00000103319 chr16 22206282 22288732 + EEF2K protein_coding This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008]. 29904 GO:0043197, GO:0014069, GO:0005829, GO:0005737, dendritic spine, postsynaptic density, cytosol, cytoplasm, GO:0008135, GO:0005524, GO:0005516, GO:0005509, GO:0004686, GO:0004672, translation factor activity, RNA binding, ATP binding, calmodulin binding, calcium ion binding, elongation factor-2 kinase activity, protein kinase activity, GO:1990637, GO:1990416, GO:0071454, GO:0071320, GO:0071277, GO:0061003, GO:0051965, GO:0046777, GO:0045807, GO:0043066, GO:0032869, GO:0031952, GO:0006414, GO:0002931, response to prolactin, cellular response to brain-derived neurotrophic factor stimulus, cellular response to anoxia, cellular response to cAMP, cellular response to calcium ion, positive regulation of dendritic spine morphogenesis, positive regulation of synapse assembly, protein autophosphorylation, positive regulation of endocytosis, negative regulation of apoptotic process, cellular response to insulin stimulus, regulation of protein autophosphorylation, translational elongation, response to ischemia, 17 46 76 36 15 38 20 18 27 ENSG00000103326 chr16 527717 554636 + CAPN15 protein_coding This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]. 6650 GO:0005737, cytoplasm, GO:0046872, GO:0005515, GO:0004198, metal ion binding, protein binding, calcium-dependent cysteine-type endopeptidase activity, GO:0006508, proteolysis, 66 71 125 99 56 138 88 54 62 ENSG00000103335 chr16 88715338 88785220 - PIEZO1 protein_coding The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]. 9780 GO:0033116, GO:0031258, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005783, endoplasmic reticulum-Golgi intermediate compartment membrane, lamellipodium membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0008381, GO:0005515, GO:0005261, GO:0005261, mechanosensitive ion channel activity, protein binding, cation channel activity, cation channel activity, GO:0098655, GO:0071260, GO:0050982, GO:0042391, GO:0033634, GO:0033625, GO:0006812, cation transmembrane transport, cellular response to mechanical stimulus, detection of mechanical stimulus, regulation of membrane potential, positive regulation of cell-cell adhesion mediated by integrin, positive regulation of integrin activation, cation transport, 157 182 479 430 203 394 383 131 341 ENSG00000103342 chr16 11868128 11916082 - GSPT1 protein_coding 2935 GO:0018444, GO:0005829, translation release factor complex, cytosol, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003747, GO:0003747, GO:0003723, GTP binding, protein binding, GTPase activity, GTPase activity, translation release factor activity, translation release factor activity, RNA binding, GO:0006479, GO:0006449, GO:0006412, GO:0002184, GO:0000184, GO:0000082, protein methylation, regulation of translational termination, translation, cytoplasmic translational termination, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, G1/S transition of mitotic cell cycle, 222 179 378 320 137 289 289 103 207 ENSG00000103343 chr16 3401235 3409370 + ZNF174 protein_coding This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]. 7727 GO:0015629, GO:0005886, GO:0005829, GO:0005654, GO:0005634, GO:0000785, GO:0000785, actin cytoskeleton, plasma membrane, cytosol, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0042803, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein homodimerization activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 12 12 16 5 24 15 10 13 10 ENSG00000103351 chr16 3500924 3539048 + CLUAP1 protein_coding The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. 23059 GO:0097542, GO:0043231, GO:0030992, GO:0005929, GO:0005929, GO:0005813, GO:0005654, ciliary tip, intracellular membrane-bounded organelle, intraciliary transport particle B, cilium, cilium, centrosome, nucleoplasm, GO:0005515, protein binding, GO:0060271, GO:0035735, cilium assembly, intraciliary transport involved in cilium assembly, 10 13 8 40 15 27 34 6 6 ENSG00000103353 chr16 23557362 23574389 + UBFD1 protein_coding 56061 GO:0045296, GO:0003723, cadherin binding, RNA binding, 31 23 56 41 17 73 65 20 30 ENSG00000103355 chr16 2783953 2787948 - PRSS33 protein_coding 260429 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0004252, GO:0004252, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0070528, GO:0006508, GO:0006508, protein kinase C signaling, proteolysis, proteolysis, 79 189 296 0 0 0 2 1 0 ENSG00000103356 chr16 23522014 23557731 - EARS2 protein_coding This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]. 124454 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0050561, GO:0008270, GO:0005524, GO:0004818, GO:0004818, GO:0000049, glutamate-tRNA(Gln) ligase activity, zinc ion binding, ATP binding, glutamate-tRNA ligase activity, glutamate-tRNA ligase activity, tRNA binding, GO:0070127, GO:0006424, GO:0006424, tRNA aminoacylation for mitochondrial protein translation, glutamyl-tRNA aminoacylation, glutamyl-tRNA aminoacylation, 8 2 10 21 3 23 17 6 9 ENSG00000103363 chr16 2771414 2777297 - ELOB protein_coding This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, Aug 2008]. 6923 GO:0070449, GO:0031466, GO:0031462, GO:0030891, GO:0005829, GO:0005654, elongin complex, Cul5-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, VCB complex, cytosol, nucleoplasm, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0065003, GO:0061418, GO:0043687, GO:0032436, GO:0016567, GO:0016567, GO:0016032, GO:0006368, GO:0006366, protein-containing complex assembly, regulation of transcription from RNA polymerase II promoter in response to hypoxia, post-translational protein modification, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, viral process, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 505 409 571 209 466 328 314 375 275 ENSG00000103365 chr16 23463542 23521995 - GGA2 protein_coding This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]. 23062 GO:0031901, GO:0030136, GO:0010008, GO:0005802, GO:0005794, early endosome membrane, clathrin-coated vesicle, endosome membrane, trans-Golgi network, Golgi apparatus, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0044267, GO:0043001, GO:0034394, GO:0006886, cellular protein metabolic process, Golgi to plasma membrane protein transport, protein localization to cell surface, intracellular protein transport, 113 109 252 194 111 320 163 89 193 ENSG00000103375 chr16 25215731 25228940 + AQP8 protein_coding Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]. 343 GO:0045177, GO:0031966, GO:0005887, GO:0005886, apical part of cell, mitochondrial membrane, integral component of plasma membrane, plasma membrane, GO:0015250, GO:0005515, water channel activity, protein binding, GO:0071320, GO:0055085, GO:0006833, cellular response to cAMP, transmembrane transport, water transport, 0 0 0 0 0 4 1 0 0 ENSG00000103381 chr16 12659799 12804017 - CPPED1 protein_coding 55313 GO:0035578, GO:0005886, GO:0005829, GO:0005576, azurophil granule lumen, plasma membrane, cytosol, extracellular region, GO:0106307, GO:0106306, GO:0046872, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, GO:0043312, GO:0006470, neutrophil degranulation, protein dephosphorylation, 12489 11474 10641 2882 6778 4042 4157 6443 3885 ENSG00000103404 chr16 23061406 23149270 - USP31 protein_coding 57478 GO:0005634, nucleus, GO:0008234, GO:0004843, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, GO:0016579, GO:0006511, protein deubiquitination, ubiquitin-dependent protein catabolic process, 16 16 31 11 13 15 36 10 11 ENSG00000103415 chr16 4474690 4510347 + HMOX2 protein_coding Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Several alternatively spliced transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. 3163 GO:0035579, GO:0016020, GO:0005886, GO:0005886, GO:0005789, specific granule membrane, membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0046872, GO:0020037, GO:0005515, GO:0004392, GO:0004392, metal ion binding, heme binding, protein binding, heme oxygenase (decyclizing) activity, heme oxygenase (decyclizing) activity, GO:0055072, GO:0043312, GO:0042167, GO:0042167, GO:0006979, GO:0006879, GO:0006788, GO:0001666, iron ion homeostasis, neutrophil degranulation, heme catabolic process, heme catabolic process, response to oxidative stress, cellular iron ion homeostasis, heme oxidation, response to hypoxia, 0 0 0 0 1 0 0 19 1 ENSG00000103423 chr16 4425805 4456775 + DNAJA3 protein_coding This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. 9093 GO:0045211, GO:0043231, GO:0031594, GO:0019897, GO:0005884, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005634, postsynaptic membrane, intracellular membrane-bounded organelle, neuromuscular junction, extrinsic component of plasma membrane, actin filament, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0051082, GO:0046872, GO:0031072, GO:0030695, GO:0005524, GO:0005515, unfolded protein binding, metal ion binding, heat shock protein binding, GTPase regulator activity, ATP binding, protein binding, GO:0071340, GO:0050790, GO:0043069, GO:0042981, GO:0042102, GO:0033077, GO:0009408, GO:0008285, GO:0007569, GO:0007264, GO:0007005, GO:0006924, GO:0006457, GO:0006264, GO:0000122, skeletal muscle acetylcholine-gated channel clustering, regulation of catalytic activity, negative regulation of programmed cell death, regulation of apoptotic process, positive regulation of T cell proliferation, T cell differentiation in thymus, response to heat, negative regulation of cell population proliferation, cell aging, small GTPase mediated signal transduction, mitochondrion organization, activation-induced cell death of T cells, protein folding, mitochondrial DNA replication, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000103426 chr16 4340251 4420494 - CORO7-PAM16 protein_coding This locus represents naturally occurring read-through transcription between the neighboring CORO7 (coronin 7) and PAM16 (presequence translocase-associated motor 16) genes on chromosome 16. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2011]. 100529144 0 0 0 0 0 0 0 0 0 ENSG00000103429 chr16 14632815 14669236 + BFAR protein_coding 51283 GO:0030176, GO:0016020, GO:0005887, GO:0005783, integral component of endoplasmic reticulum membrane, membrane, integral component of plasma membrane, endoplasmic reticulum, GO:0089720, GO:0061630, GO:0061630, GO:0046872, GO:0030674, GO:0005515, caspase binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein-macromolecule adaptor activity, protein binding, GO:1903895, GO:0070936, GO:0070534, GO:0051865, GO:0043161, GO:0043161, GO:0043066, GO:0006915, GO:0006511, GO:0000209, negative regulation of IRE1-mediated unfolded protein response, protein K48-linked ubiquitination, protein K63-linked ubiquitination, protein autoubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, apoptotic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 7 10 12 6 7 19 1 3 0 ENSG00000103449 chr16 51135975 51151367 - SALL1 protein_coding The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6299 GO:0010369, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000792, chromocenter, cytoplasm, nucleoplasm, nucleus, nucleus, heterochromatin, GO:0046872, GO:0008013, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, metal ion binding, beta-catenin binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072092, GO:0072073, GO:0061034, GO:0060173, GO:0048566, GO:0045944, GO:0045893, GO:0045892, GO:0042733, GO:0035019, GO:0031129, GO:0030325, GO:0030177, GO:0021983, GO:0021889, GO:0021553, GO:0008406, GO:0007507, GO:0006357, GO:0003337, GO:0003281, GO:0001822, GO:0001658, GO:0001657, GO:0000122, ureteric bud invasion, kidney epithelium development, olfactory bulb mitral cell layer development, limb development, embryonic digestive tract development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, embryonic digit morphogenesis, somatic stem cell population maintenance, inductive cell-cell signaling, adrenal gland development, positive regulation of Wnt signaling pathway, pituitary gland development, olfactory bulb interneuron differentiation, olfactory nerve development, gonad development, heart development, regulation of transcription by RNA polymerase II, mesenchymal to epithelial transition involved in metanephros morphogenesis, ventricular septum development, kidney development, branching involved in ureteric bud morphogenesis, ureteric bud development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000103460 chr16 52438005 52547802 - TOX3 protein_coding The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]. 27324 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0051219, GO:0042803, GO:0031490, GO:0005515, GO:0003713, GO:0003682, phosphoprotein binding, protein homodimerization activity, chromatin DNA binding, protein binding, transcription coactivator activity, chromatin binding, GO:0045944, GO:0043524, GO:0042981, GO:0006915, GO:0006357, positive regulation of transcription by RNA polymerase II, negative regulation of neuron apoptotic process, regulation of apoptotic process, apoptotic process, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000103472 chr16 29074976 29116718 + RRN3P2 processed_transcript 0 2 4 5 1 6 2 1 0 ENSG00000103479 chr16 53433977 53491649 + RBL2 protein_coding 5934 GO:0070062, GO:0005829, GO:0005730, GO:0005667, GO:0005654, GO:0005654, GO:0000785, extracellular exosome, cytosol, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, chromatin, GO:1990841, GO:0005515, GO:0001102, GO:0000977, promoter-specific chromatin binding, protein binding, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000134, GO:0051302, GO:0043550, GO:0030154, GO:0010629, GO:0006977, GO:0006357, GO:0006325, negative regulation of G1/S transition of mitotic cell cycle, regulation of cell division, regulation of lipid kinase activity, cell differentiation, negative regulation of gene expression, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription by RNA polymerase II, chromatin organization, 2802 2698 3477 2309 2305 2450 2612 2005 2030 ENSG00000103485 chr16 29679008 29698699 + QPRT protein_coding This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 23475 GO:1902494, GO:0070062, GO:0005829, GO:0005737, catalytic complex, extracellular exosome, cytosol, cytoplasm, GO:0042802, GO:0005515, GO:0004514, GO:0004514, GO:0004514, identical protein binding, protein binding, nicotinate-nucleotide diphosphorylase (carboxylating) activity, nicotinate-nucleotide diphosphorylase (carboxylating) activity, nicotinate-nucleotide diphosphorylase (carboxylating) activity, GO:0034213, GO:0034213, GO:0019674, GO:0009435, GO:0009435, quinolinate catabolic process, quinolinate catabolic process, NAD metabolic process, NAD biosynthetic process, NAD biosynthetic process, 1 2 3 4 2 4 3 0 4 ENSG00000103489 chr16 17101769 17470881 - XYLT1 protein_coding This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]. 64131 GO:0016021, GO:0005615, GO:0000139, GO:0000139, GO:0000137, integral component of membrane, extracellular space, Golgi membrane, Golgi membrane, Golgi cis cisterna, GO:0046872, GO:0030158, GO:0030158, GO:0030158, metal ion binding, protein xylosyltransferase activity, protein xylosyltransferase activity, protein xylosyltransferase activity, GO:0050650, GO:0050650, GO:0048706, GO:0043931, GO:0030206, GO:0030203, GO:0030166, GO:0015012, GO:0015012, GO:0015012, GO:0006024, chondroitin sulfate proteoglycan biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process, embryonic skeletal system development, ossification involved in bone maturation, chondroitin sulfate biosynthetic process, glycosaminoglycan metabolic process, proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, glycosaminoglycan biosynthetic process, 564 512 746 343 338 520 332 327 393 ENSG00000103490 chr16 31201485 31203450 - PYCARD protein_coding This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 29108 GO:0097169, GO:0072559, GO:0072558, GO:0043025, GO:0035578, GO:0034774, GO:0032991, GO:0008385, GO:0008385, GO:0005829, GO:0005829, GO:0005783, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005576, GO:0000139, AIM2 inflammasome complex, NLRP3 inflammasome complex, NLRP1 inflammasome complex, neuronal cell body, azurophil granule lumen, secretory granule lumen, protein-containing complex, IkappaB kinase complex, IkappaB kinase complex, cytosol, cytosol, endoplasmic reticulum, mitochondrion, cytoplasm, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, extracellular region, Golgi membrane, GO:0097153, GO:0070700, GO:0046983, GO:0044325, GO:0042803, GO:0042802, GO:0032090, GO:0019899, GO:0017024, GO:0008656, GO:0005523, GO:0005515, GO:0005138, GO:0002020, cysteine-type endopeptidase activity involved in apoptotic process, BMP receptor binding, protein dimerization activity, ion channel binding, protein homodimerization activity, identical protein binding, Pyrin domain binding, enzyme binding, myosin I binding, cysteine-type endopeptidase activator activity involved in apoptotic process, tropomyosin binding, protein binding, interleukin-6 receptor binding, protease binding, GO:2001242, GO:2001238, GO:2001056, GO:2000406, GO:1900016, GO:0097202, GO:0090200, GO:0072332, GO:0071901, GO:0071356, GO:0071347, GO:0071222, GO:0070374, GO:0051607, GO:0051260, GO:0051092, GO:0051092, GO:0051091, GO:0050870, GO:0050829, GO:0050766, GO:0046330, GO:0045087, GO:0044351, GO:0043312, GO:0043280, GO:0043280, GO:0043124, GO:0043087, GO:0043065, GO:0042771, GO:0042104, GO:0033209, GO:0032760, GO:0032757, GO:0032755, GO:0032755, GO:0032733, GO:0032731, GO:0032731, GO:0032729, GO:0032722, GO:0032688, GO:0032611, GO:0032088, GO:0031647, GO:0030838, GO:0010803, GO:0010506, GO:0007165, GO:0006954, GO:0006919, GO:0006915, GO:0002821, GO:0002588, GO:0002277, GO:0002230, GO:0002218, GO:0001773, regulation of intrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of cysteine-type endopeptidase activity, positive regulation of T cell migration, negative regulation of cytokine production involved in inflammatory response, activation of cysteine-type endopeptidase activity, positive regulation of release of cytochrome c from mitochondria, intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of protein serine/threonine kinase activity, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to lipopolysaccharide, positive regulation of ERK1 and ERK2 cascade, defense response to virus, protein homooligomerization, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of T cell activation, defense response to Gram-negative bacterium, positive regulation of phagocytosis, positive regulation of JNK cascade, innate immune response, macropinocytosis, neutrophil degranulation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of GTPase activity, positive regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of activated T cell proliferation, tumor necrosis factor-mediated signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, positive regulation of chemokine production, negative regulation of interferon-beta production, interleukin-1 beta production, negative regulation of NF-kappaB transcription factor activity, regulation of protein stability, positive regulation of actin filament polymerization, regulation of tumor necrosis factor-mediated signaling pathway, regulation of autophagy, signal transduction, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, positive regulation of adaptive immune response, positive regulation of antigen processing and presentation of peptide antigen via MHC class II, myeloid dendritic cell activation involved in immune response, positive regulation of defense response to virus by host, activation of innate immune response, myeloid dendritic cell activation, 863 691 873 297 643 440 381 649 429 ENSG00000103494 chr16 53598153 53703938 - RPGRIP1L protein_coding The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]. 23322 GO:0036064, GO:0035869, GO:0035869, GO:0035253, GO:0032391, GO:0005930, GO:0005929, GO:0005923, GO:0005911, GO:0005886, GO:0005879, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, ciliary basal body, ciliary transition zone, ciliary transition zone, ciliary rootlet, photoreceptor connecting cilium, axoneme, cilium, bicellular tight junction, cell-cell junction, plasma membrane, axonemal microtubule, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, GO:0031870, GO:0031870, GO:0005515, thromboxane A2 receptor binding, thromboxane A2 receptor binding, protein binding, GO:1905515, GO:0097711, GO:0090102, GO:0060039, GO:0046548, GO:0045744, GO:0043584, GO:0035116, GO:0035115, GO:0022038, GO:0021772, GO:0021670, GO:0021549, GO:0021532, GO:0008589, GO:0007368, GO:0007163, GO:0001889, GO:0001822, GO:0001736, GO:0001701, non-motile cilium assembly, ciliary basal body-plasma membrane docking, cochlea development, pericardium development, retinal rod cell development, negative regulation of G protein-coupled receptor signaling pathway, nose development, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, corpus callosum development, olfactory bulb development, lateral ventricle development, cerebellum development, neural tube patterning, regulation of smoothened signaling pathway, determination of left/right symmetry, establishment or maintenance of cell polarity, liver development, kidney development, establishment of planar polarity, in utero embryonic development, 2 7 4 6 2 26 10 2 6 ENSG00000103495 chr16 29806106 29811164 + MAZ protein_coding 4150 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003723, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000978, metal ion binding, protein binding, RNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001234, GO:0051897, GO:0045893, GO:0030335, GO:0014068, GO:0010628, GO:0008284, GO:0006369, GO:0006367, GO:0006357, negative regulation of apoptotic signaling pathway, positive regulation of protein kinase B signaling, positive regulation of transcription, DNA-templated, positive regulation of cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of gene expression, positive regulation of cell population proliferation, termination of RNA polymerase II transcription, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 583 694 713 859 967 845 761 707 678 ENSG00000103496 chr16 31032889 31042975 + STX4 protein_coding 6810 GO:0098978, GO:0098978, GO:0098794, GO:0098794, GO:0070062, GO:0048787, GO:0048471, GO:0045202, GO:0043219, GO:0043197, GO:0042581, GO:0036477, GO:0035749, GO:0031201, GO:0031201, GO:0030670, GO:0030027, GO:0016323, GO:0016021, GO:0016020, GO:0012505, GO:0009986, GO:0008021, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005773, GO:0005768, GO:0005615, GO:0000322, glutamatergic synapse, glutamatergic synapse, postsynapse, postsynapse, extracellular exosome, presynaptic active zone membrane, perinuclear region of cytoplasm, synapse, lateral loop, dendritic spine, specific granule, somatodendritic compartment, myelin sheath adaxonal region, SNARE complex, SNARE complex, phagocytic vesicle membrane, lamellipodium, basolateral plasma membrane, integral component of membrane, membrane, endomembrane system, cell surface, synaptic vesicle, plasma membrane, plasma membrane, plasma membrane, cytosol, trans-Golgi network, vacuole, endosome, extracellular space, storage vacuole, GO:0016230, GO:0005515, GO:0005484, GO:0000149, sphingomyelin phosphodiesterase activator activity, protein binding, SNAP receptor activity, SNARE binding, GO:2000010, GO:1990668, GO:1903575, GO:1903078, GO:1902041, GO:0071346, GO:0060291, GO:0050921, GO:0048284, GO:0048278, GO:0045785, GO:0043311, GO:0043085, GO:0035774, GO:0035774, GO:0035493, GO:0034599, GO:0031629, GO:0030335, GO:0019221, GO:0017157, GO:0008284, GO:0006906, GO:0006892, GO:0006887, GO:0006886, GO:0002639, positive regulation of protein localization to cell surface, vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane, cornified envelope assembly, positive regulation of protein localization to plasma membrane, regulation of extrinsic apoptotic signaling pathway via death domain receptors, cellular response to interferon-gamma, long-term synaptic potentiation, positive regulation of chemotaxis, organelle fusion, vesicle docking, positive regulation of cell adhesion, positive regulation of eosinophil degranulation, positive regulation of catalytic activity, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of insulin secretion involved in cellular response to glucose stimulus, SNARE complex assembly, cellular response to oxidative stress, synaptic vesicle fusion to presynaptic active zone membrane, positive regulation of cell migration, cytokine-mediated signaling pathway, regulation of exocytosis, positive regulation of cell population proliferation, vesicle fusion, post-Golgi vesicle-mediated transport, exocytosis, intracellular protein transport, positive regulation of immunoglobulin production, 931 1198 1211 2089 2437 2419 1929 1986 1875 ENSG00000103502 chr16 29858357 29863736 - CDIPT protein_coding Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 10423 GO:0016021, GO:0016020, GO:0005886, GO:0005794, GO:0005789, integral component of membrane, membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, GO:0043178, GO:0030246, GO:0030145, GO:0019992, GO:0005515, GO:0003881, GO:0003881, alcohol binding, carbohydrate binding, manganese ion binding, diacylglycerol binding, protein binding, CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity, CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity, GO:0046341, GO:0006661, GO:0006661, GO:0006661, CDP-diacylglycerol metabolic process, phosphatidylinositol biosynthetic process, phosphatidylinositol biosynthetic process, phosphatidylinositol biosynthetic process, 611 742 805 315 622 409 358 556 439 ENSG00000103507 chr16 31106107 31112791 + BCKDK protein_coding The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 10295 GO:0005947, GO:0005947, GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005739, mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, mitochondrion, GO:0047323, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1904183, GO:0042593, GO:0016310, GO:0016310, GO:0009083, GO:0009083, GO:0009063, GO:0006468, negative regulation of pyruvate dehydrogenase activity, glucose homeostasis, phosphorylation, phosphorylation, branched-chain amino acid catabolic process, branched-chain amino acid catabolic process, cellular amino acid catabolic process, protein phosphorylation, 591 569 539 229 474 316 307 444 207 ENSG00000103510 chr16 31115754 31131393 + KAT8 protein_coding This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 84148 GO:0072487, GO:0072487, GO:0071339, GO:0016363, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000776, GO:0000123, MSL complex, MSL complex, MLL1 complex, nuclear matrix, nucleoplasm, nucleoplasm, nucleus, chromatin, kinetochore, histone acetyltransferase complex, GO:0046972, GO:0046872, GO:0043996, GO:0043995, GO:0042393, GO:0035064, GO:0019899, GO:0016407, GO:0008134, GO:0005515, GO:0004402, GO:0003712, histone acetyltransferase activity (H4-K16 specific), metal ion binding, histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), histone binding, methylated histone binding, enzyme binding, acetyltransferase activity, transcription factor binding, protein binding, histone acetyltransferase activity, transcription coregulator activity, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0043984, GO:0043984, GO:0043982, GO:0043981, GO:0030099, GO:0016573, GO:0010506, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, histone H4-K16 acetylation, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, myeloid cell differentiation, histone acetylation, regulation of autophagy, 872 950 1126 709 957 867 732 748 802 ENSG00000103512 chr16 14833681 14896160 + NOMO1 protein_coding This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]. 23420 GO:0016021, GO:0016020, GO:0005789, GO:0005575, integral component of membrane, membrane, endoplasmic reticulum membrane, cellular_component, GO:0030246, GO:0005515, GO:0003674, carbohydrate binding, protein binding, molecular_function, GO:1900108, GO:0008150, negative regulation of nodal signaling pathway, biological_process, 38 34 11 12 58 14 35 39 18 ENSG00000103522 chr16 27402162 27452042 + IL21R protein_coding The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]. 50615 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004896, GO:0004888, GO:0001532, protein binding, cytokine receptor activity, transmembrane signaling receptor activity, interleukin-21 receptor activity, GO:0038114, GO:0030101, interleukin-21-mediated signaling pathway, natural killer cell activation, 61 55 215 99 18 108 87 28 82 ENSG00000103528 chr16 19167971 19268334 + SYT17 protein_coding 51760 GO:0098793, GO:0070382, GO:0005886, GO:0005802, presynapse, exocytic vesicle, plasma membrane, trans-Golgi network, GO:0030276, GO:0019905, GO:0005544, GO:0005515, GO:0005509, GO:0001786, GO:0000149, clathrin binding, syntaxin binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:1903861, GO:0071277, GO:0017158, GO:0017156, GO:0016192, GO:0014059, positive regulation of dendrite extension, cellular response to calcium ion, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, 0 0 1 1 6 3 0 0 0 ENSG00000103534 chr16 19410496 19499113 + TMC5 protein_coding 79838 GO:0070062, GO:0005887, extracellular exosome, integral component of plasma membrane, GO:0008381, mechanosensitive ion channel activity, GO:0034220, ion transmembrane transport, 4 1 2 12 6 0 2 3 1 ENSG00000103540 chr16 19523811 19553408 + CCP110 protein_coding 9738 GO:0032991, GO:0005929, GO:0005829, GO:0005814, GO:0005814, GO:0005813, protein-containing complex, cilium, cytosol, centriole, centriole, centrosome, GO:0005515, protein binding, GO:1903723, GO:1902018, GO:0097711, GO:0051298, GO:0051298, GO:0045724, GO:0032465, GO:0032053, GO:0032053, GO:0016579, GO:0010389, GO:0007099, GO:0007099, GO:0000086, negative regulation of centriole elongation, negative regulation of cilium assembly, ciliary basal body-plasma membrane docking, centrosome duplication, centrosome duplication, positive regulation of cilium assembly, regulation of cytokinesis, ciliary basal body organization, ciliary basal body organization, protein deubiquitination, regulation of G2/M transition of mitotic cell cycle, centriole replication, centriole replication, G2/M transition of mitotic cell cycle, 138 174 177 92 152 102 117 118 113 ENSG00000103544 chr16 19555240 19706793 + VPS35L protein_coding 57020 GO:0101003, GO:0016021, GO:0005886, GO:0005768, GO:0005768, ficolin-1-rich granule membrane, integral component of membrane, plasma membrane, endosome, endosome, GO:0005515, protein binding, GO:1990126, GO:1990126, GO:0043312, GO:0032456, GO:0032456, GO:0015031, GO:0006893, retrograde transport, endosome to plasma membrane, retrograde transport, endosome to plasma membrane, neutrophil degranulation, endocytic recycling, endocytic recycling, protein transport, Golgi to plasma membrane transport, 58 58 72 81 58 98 72 39 84 ENSG00000103546 chr16 55655604 55706192 + SLC6A2 protein_coding This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]. 6530 GO:0045121, GO:0043005, GO:0042734, GO:0032809, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, membrane raft, neuron projection, presynaptic membrane, neuronal cell body membrane, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0048487, GO:0046872, GO:0043014, GO:0008504, GO:0008504, GO:0005515, GO:0005334, GO:0005334, GO:0005330, GO:0005328, GO:0005326, GO:0003779, beta-tubulin binding, metal ion binding, alpha-tubulin binding, monoamine transmembrane transporter activity, monoamine transmembrane transporter activity, protein binding, norepinephrine:sodium symporter activity, norepinephrine:sodium symporter activity, dopamine:sodium symporter activity, neurotransmitter:sodium symporter activity, neurotransmitter transmembrane transporter activity, actin binding, GO:0070050, GO:0051620, GO:0051583, GO:0048265, GO:0042493, GO:0035725, GO:0015874, GO:0015844, GO:0007268, GO:0006836, neuron cellular homeostasis, norepinephrine uptake, dopamine uptake involved in synaptic transmission, response to pain, response to drug, sodium ion transmembrane transport, norepinephrine transport, monoamine transport, chemical synaptic transmission, neurotransmitter transport, 0 0 0 0 0 0 0 0 0 ENSG00000103549 chr16 30761745 30776307 + RNF40 protein_coding The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 9810 GO:0043679, GO:0043005, GO:0033503, GO:0019898, GO:0016020, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000151, axon terminus, neuron projection, HULC complex, extrinsic component of membrane, membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0046872, GO:0044877, GO:0042803, GO:0031625, GO:0031624, GO:0017075, GO:0005515, GO:0004842, GO:0003730, metal ion binding, protein-containing complex binding, protein homodimerization activity, ubiquitin protein ligase binding, ubiquitin conjugating enzyme binding, syntaxin-1 binding, protein binding, ubiquitin-protein transferase activity, mRNA 3'-UTR binding, GO:2001168, GO:1902916, GO:1901800, GO:1900364, GO:0043434, GO:0033523, GO:0016567, GO:0010390, GO:0007346, GO:0006511, positive regulation of histone H2B ubiquitination, positive regulation of protein polyubiquitination, positive regulation of proteasomal protein catabolic process, negative regulation of mRNA polyadenylation, response to peptide hormone, histone H2B ubiquitination, protein ubiquitination, histone monoubiquitination, regulation of mitotic cell cycle, ubiquitin-dependent protein catabolic process, 2586 2378 2896 1490 2014 1888 1500 1338 1486 ENSG00000103550 chr16 19701934 19718235 - KNOP1 protein_coding The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]. 400506 GO:0005730, nucleolus, GO:0005515, GO:0003723, protein binding, RNA binding, 10 8 10 28 8 26 18 8 17 ENSG00000103569 chr15 58138169 58185911 + AQP9 protein_coding The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 366 GO:0043231, GO:0016323, GO:0016021, GO:0005887, GO:0005886, intracellular membrane-bounded organelle, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0046943, GO:0015265, GO:0015254, GO:0015254, GO:0015250, GO:0015204, GO:0015166, GO:0005515, GO:0005372, GO:0005350, GO:0005345, GO:0005275, carboxylic acid transmembrane transporter activity, urea channel activity, glycerol channel activity, glycerol channel activity, water channel activity, urea transmembrane transporter activity, polyol transmembrane transporter activity, protein binding, water transmembrane transporter activity, pyrimidine nucleobase transmembrane transporter activity, purine nucleobase transmembrane transporter activity, amine transmembrane transporter activity, GO:1905039, GO:1904823, GO:0072531, GO:0071918, GO:0071320, GO:0046942, GO:0046689, GO:0030104, GO:0015855, GO:0015837, GO:0015793, GO:0015793, GO:0015791, GO:0015722, GO:0010033, GO:0007588, GO:0006970, GO:0006863, GO:0006833, GO:0006833, carboxylic acid transmembrane transport, purine nucleobase transmembrane transport, pyrimidine-containing compound transmembrane transport, urea transmembrane transport, cellular response to cAMP, carboxylic acid transport, response to mercury ion, water homeostasis, pyrimidine nucleobase transport, amine transport, glycerol transport, glycerol transport, polyol transport, canalicular bile acid transport, response to organic substance, excretion, response to osmotic stress, purine nucleobase transport, water transport, water transport, 24599 27275 42367 5894 14776 15330 8302 13415 14132 ENSG00000103591 chr15 67201033 67255195 - AAGAB protein_coding The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]. 79719 GO:0016607, GO:0005829, GO:0005737, nuclear speck, cytosol, cytoplasm, GO:0005515, protein binding, GO:0015031, protein transport, 179 144 171 164 126 200 123 120 104 ENSG00000103599 chr15 67254800 67502260 + IQCH protein_coding 64799 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 1 0 0 1 0 0 1 0 0 ENSG00000103642 chr15 63121800 63142061 + LACTB protein_coding This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]. 114294 GO:0005829, GO:0005739, GO:0005739, cytosol, mitochondrion, mitochondrion, GO:0042802, GO:0008233, identical protein binding, peptidase activity, GO:0019216, GO:0006629, GO:0006508, regulation of lipid metabolic process, lipid metabolic process, proteolysis, 301 321 604 121 222 290 150 192 245 ENSG00000103647 chr15 68578969 68727806 + CORO2B protein_coding 10391 GO:0016020, GO:0015629, GO:0005925, GO:0005737, membrane, actin cytoskeleton, focal adhesion, cytoplasm, GO:1990147, GO:0051015, GO:0017166, GO:0005515, GO:0003779, talin binding, actin filament binding, vinculin binding, protein binding, actin binding, GO:1904951, GO:1904950, GO:0080135, GO:0051497, GO:0048041, GO:0032956, GO:0030036, GO:0010812, GO:0003093, positive regulation of establishment of protein localization, negative regulation of establishment of protein localization, regulation of cellular response to stress, negative regulation of stress fiber assembly, focal adhesion assembly, regulation of actin cytoskeleton organization, actin cytoskeleton organization, negative regulation of cell-substrate adhesion, regulation of glomerular filtration, 0 1 2 0 6 6 2 3 0 ENSG00000103653 chr15 74782057 74803198 + CSK protein_coding The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]. 1445 GO:0070062, GO:0045121, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, membrane raft, cell-cell junction, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0070064, GO:0046872, GO:0042802, GO:0034236, GO:0019903, GO:0008022, GO:0005524, GO:0005515, GO:0004715, GO:0004713, proline-rich region binding, metal ion binding, identical protein binding, protein kinase A catalytic subunit binding, protein phosphatase binding, protein C-terminus binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0071375, GO:0070373, GO:0060368, GO:0050852, GO:0050765, GO:0048709, GO:0046777, GO:0045779, GO:0043406, GO:0042997, GO:0034332, GO:0033673, GO:0032715, GO:0031295, GO:0018108, GO:0010989, GO:0008285, GO:0007420, GO:0006468, GO:0002250, cellular response to peptide hormone stimulus, negative regulation of ERK1 and ERK2 cascade, regulation of Fc receptor mediated stimulatory signaling pathway, T cell receptor signaling pathway, negative regulation of phagocytosis, oligodendrocyte differentiation, protein autophosphorylation, negative regulation of bone resorption, positive regulation of MAP kinase activity, negative regulation of Golgi to plasma membrane protein transport, adherens junction organization, negative regulation of kinase activity, negative regulation of interleukin-6 production, T cell costimulation, peptidyl-tyrosine phosphorylation, negative regulation of low-density lipoprotein particle clearance, negative regulation of cell population proliferation, brain development, protein phosphorylation, adaptive immune response, 2973 2328 3424 1713 2361 1966 2028 2156 1930 ENSG00000103657 chr15 63608618 63833942 - HERC1 protein_coding This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]. 8925 GO:0016020, GO:0005829, GO:0005794, GO:0005737, membrane, cytosol, Golgi apparatus, cytoplasm, GO:0005085, GO:0004842, guanyl-nucleotide exchange factor activity, ubiquitin-protein transferase activity, GO:0050885, GO:0031175, GO:0021702, GO:0016567, GO:0010507, neuromuscular process controlling balance, neuron projection development, cerebellar Purkinje cell differentiation, protein ubiquitination, negative regulation of autophagy, 1891 1877 2524 1008 1030 1259 1157 851 944 ENSG00000103671 chr15 64387748 64455303 + TRIP4 protein_coding This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]. 9325 GO:0099053, GO:0032991, GO:0031594, GO:0016604, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0005634, activating signal cointegrator 1 complex, protein-containing complex, neuromuscular junction, nuclear body, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0044389, GO:0035035, GO:0030331, GO:0019901, GO:0016922, GO:0008270, GO:0005515, GO:0003713, GO:0003713, GO:0002020, ubiquitin-like protein ligase binding, histone acetyltransferase binding, estrogen receptor binding, protein kinase binding, nuclear receptor binding, zinc ion binding, protein binding, transcription coactivator activity, transcription coactivator activity, protease binding, GO:1901998, GO:0045893, GO:0045893, GO:0045661, GO:0030520, GO:0006355, GO:0006355, toxin transport, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of myoblast differentiation, intracellular estrogen receptor signaling pathway, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 223 198 196 148 205 140 184 196 161 ENSG00000103707 chr15 65001512 65029639 - MTFMT protein_coding The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]. 123263 GO:0005739, mitochondrion, GO:0004479, methionyl-tRNA formyltransferase activity, GO:0071951, GO:0006413, conversion of methionyl-tRNA to N-formyl-methionyl-tRNA, translational initiation, 40 41 58 28 113 29 44 96 36 ENSG00000103710 chr15 65053337 65076690 - RASL12 protein_coding 51285 GO:0005886, plasma membrane, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GO:0007165, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000103723 chr15 82659281 82709914 - AP3B2 protein_coding Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]. 8120 GO:1904115, GO:0097708, GO:0030665, GO:0030123, GO:0005794, axon cytoplasm, intracellular vesicle, clathrin-coated vesicle membrane, AP-3 adaptor complex, Golgi apparatus, GO:0048490, GO:0048490, GO:0016192, GO:0008089, GO:0006886, anterograde synaptic vesicle transport, anterograde synaptic vesicle transport, vesicle-mediated transport, anterograde axonal transport, intracellular protein transport, 0 2 7 6 2 1 5 2 15 ENSG00000103740 chr15 78167468 78245688 - ACSBG1 protein_coding The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]. 23205 GO:0031410, GO:0005886, GO:0005829, GO:0005783, GO:0005737, GO:0005737, cytoplasmic vesicle, plasma membrane, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, GO:0102391, GO:0031957, GO:0016405, GO:0005524, GO:0004467, GO:0004467, GO:0003996, decanoate-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, CoA-ligase activity, ATP binding, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, acyl-CoA ligase activity, GO:0051384, GO:0042759, GO:0042552, GO:0035338, GO:0001676, GO:0000038, response to glucocorticoid, long-chain fatty acid biosynthetic process, myelination, long-chain fatty-acyl-CoA biosynthetic process, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 17 6 25 47 15 47 29 14 16 ENSG00000103742 chr15 65381464 65423072 - IGDCC4 protein_coding 57722 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 1 6 3 6 3 0 2 1 3 ENSG00000103769 chr15 65726054 65891991 + RAB11A protein_coding The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 8766 GO:0098978, GO:0098978, GO:0098837, GO:0098837, GO:0098837, GO:0070062, GO:0070062, GO:0055038, GO:0055037, GO:0055037, GO:0055037, GO:0048471, GO:0045335, GO:0043231, GO:0034451, GO:0032991, GO:0032154, GO:0031982, GO:0031410, GO:0030659, GO:0030424, GO:0030133, GO:0005829, GO:0005828, GO:0005813, GO:0005813, GO:0005802, GO:0005794, GO:0005771, GO:0005768, GO:0000922, glutamatergic synapse, glutamatergic synapse, postsynaptic recycling endosome, postsynaptic recycling endosome, postsynaptic recycling endosome, extracellular exosome, extracellular exosome, recycling endosome membrane, recycling endosome, recycling endosome, recycling endosome, perinuclear region of cytoplasm, phagocytic vesicle, intracellular membrane-bounded organelle, centriolar satellite, protein-containing complex, cleavage furrow, vesicle, cytoplasmic vesicle, cytoplasmic vesicle membrane, axon, transport vesicle, cytosol, kinetochore microtubule, centrosome, centrosome, trans-Golgi network, Golgi apparatus, multivesicular body, endosome, spindle pole, GO:0031489, GO:0019905, GO:0008017, GO:0005525, GO:0005515, GO:0003924, myosin V binding, syntaxin binding, microtubule binding, GTP binding, protein binding, GTPase activity, GO:1990182, GO:1903078, GO:0150093, GO:0098887, GO:0097711, GO:0090307, GO:0090150, GO:0072659, GO:0072594, GO:0060627, GO:0051650, GO:0051223, GO:0048227, GO:0048169, GO:0045773, GO:0043687, GO:0036258, GO:0032465, GO:0032402, GO:0032402, GO:0031175, GO:0030953, GO:0016192, GO:0010971, GO:0010796, GO:0010634, GO:0007080, GO:0006887, GO:0003091, exosomal secretion, positive regulation of protein localization to plasma membrane, amyloid-beta clearance by transcytosis, neurotransmitter receptor transport, endosome to postsynaptic membrane, ciliary basal body-plasma membrane docking, mitotic spindle assembly, establishment of protein localization to membrane, protein localization to plasma membrane, establishment of protein localization to organelle, regulation of vesicle-mediated transport, establishment of vesicle localization, regulation of protein transport, plasma membrane to endosome transport, regulation of long-term neuronal synaptic plasticity, positive regulation of axon extension, post-translational protein modification, multivesicular body assembly, regulation of cytokinesis, melanosome transport, melanosome transport, neuron projection development, astral microtubule organization, vesicle-mediated transport, positive regulation of G2/M transition of mitotic cell cycle, regulation of multivesicular body size, positive regulation of epithelial cell migration, mitotic metaphase plate congression, exocytosis, renal water homeostasis, 1348 1210 1424 353 588 484 431 725 523 ENSG00000103811 chr15 78921058 78949574 - CTSH protein_coding The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 1512 GO:1904813, GO:1904724, GO:0097486, GO:0097208, GO:0070062, GO:0062023, GO:0043231, GO:0036464, GO:0034774, GO:0005829, GO:0005764, GO:0005764, GO:0005615, GO:0005615, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, multivesicular body lumen, alveolar lamellar body, extracellular exosome, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, cytoplasmic ribonucleoprotein granule, secretory granule lumen, cytosol, lysosome, lysosome, extracellular space, extracellular space, extracellular space, extracellular region, GO:0070324, GO:0030108, GO:0008656, GO:0008234, GO:0008233, GO:0005515, GO:0004252, GO:0004197, GO:0004197, GO:0004197, GO:0004177, GO:0004175, thyroid hormone binding, HLA-A specific activating MHC class I receptor activity, cysteine-type endopeptidase activator activity involved in apoptotic process, cysteine-type peptidase activity, peptidase activity, protein binding, serine-type endopeptidase activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, aminopeptidase activity, endopeptidase activity, GO:2001235, GO:0097067, GO:0070371, GO:0060448, GO:0051603, GO:0045766, GO:0044267, GO:0043312, GO:0043129, GO:0043066, GO:0033619, GO:0032526, GO:0031648, GO:0031638, GO:0030335, GO:0019882, GO:0010952, GO:0010815, GO:0010813, GO:0010634, GO:0010628, GO:0008284, GO:0006919, GO:0006915, GO:0006508, GO:0006508, GO:0002764, GO:0002250, GO:0001913, GO:0001656, positive regulation of apoptotic signaling pathway, cellular response to thyroid hormone stimulus, ERK1 and ERK2 cascade, dichotomous subdivision of terminal units involved in lung branching, proteolysis involved in cellular protein catabolic process, positive regulation of angiogenesis, cellular protein metabolic process, neutrophil degranulation, surfactant homeostasis, negative regulation of apoptotic process, membrane protein proteolysis, response to retinoic acid, protein destabilization, zymogen activation, positive regulation of cell migration, antigen processing and presentation, positive regulation of peptidase activity, bradykinin catabolic process, neuropeptide catabolic process, positive regulation of epithelial cell migration, positive regulation of gene expression, positive regulation of cell population proliferation, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, proteolysis, proteolysis, immune response-regulating signaling pathway, adaptive immune response, T cell mediated cytotoxicity, metanephros development, 55 61 123 129 118 115 89 85 84 ENSG00000103832 chr15 30791573 30801859 + GOLGA8UP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000103852 chr15 99136323 99251223 - TTC23 protein_coding 64927 GO:0005929, cilium, GO:0005515, protein binding, GO:0045880, positive regulation of smoothened signaling pathway, 0 5 0 8 1 4 0 1 2 ENSG00000103855 chr15 73683966 73714518 + CD276 protein_coding The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 80381 GO:0016021, GO:0009897, GO:0009897, integral component of membrane, external side of plasma membrane, external side of plasma membrane, GO:0005515, GO:0005102, GO:0005102, protein binding, signaling receptor binding, signaling receptor binding, GO:0050852, GO:0050776, GO:0042110, GO:0042102, GO:0032729, GO:0001817, T cell receptor signaling pathway, regulation of immune response, T cell activation, positive regulation of T cell proliferation, positive regulation of interferon-gamma production, regulation of cytokine production, 0 3 0 0 0 0 0 0 0 ENSG00000103876 chr15 80152490 80186946 + FAH protein_coding This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]. 2184 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0046872, GO:0005515, GO:0004334, metal ion binding, protein binding, fumarylacetoacetase activity, GO:1902000, GO:0006572, GO:0006559, GO:0006559, GO:0006559, GO:0006527, homogentisate catabolic process, tyrosine catabolic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, arginine catabolic process, 6 8 24 24 19 22 7 7 16 ENSG00000103888 chr15 80779343 80951776 + CEMIP protein_coding 57214 GO:0045334, GO:0030665, GO:0005905, GO:0005886, GO:0005783, GO:0005737, GO:0005737, GO:0005634, GO:0005576, clathrin-coated endocytic vesicle, clathrin-coated vesicle membrane, clathrin-coated pit, plasma membrane, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0046923, GO:0032050, GO:0005540, GO:0005515, GO:0004415, GO:0004415, ER retention sequence binding, clathrin heavy chain binding, hyaluronic acid binding, protein binding, hyalurononglucosaminidase activity, hyalurononglucosaminidase activity, GO:1900020, GO:0090314, GO:0051281, GO:0030335, GO:0030214, GO:0030213, GO:0010800, GO:0007605, positive regulation of protein kinase C activity, positive regulation of protein targeting to membrane, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of cell migration, hyaluronan catabolic process, hyaluronan biosynthetic process, positive regulation of peptidyl-threonine phosphorylation, sensory perception of sound, 8 15 11 6 21 37 18 15 16 ENSG00000103932 chr15 41517176 41544269 - RPAP1 protein_coding This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]. 26015 GO:0005634, nucleus, GO:0005515, GO:0003899, GO:0003677, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0006366, transcription by RNA polymerase II, 13 5 26 26 9 35 48 13 39 ENSG00000103942 chr15 82836946 82986153 - HOMER2 protein_coding This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]. 9455 GO:0098978, GO:0045177, GO:0043229, GO:0043025, GO:0032426, GO:0030425, GO:0014069, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, glutamatergic synapse, apical part of cell, intracellular organelle, neuronal cell body, stereocilium tip, dendrite, postsynaptic density, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, GO:0044877, GO:0042802, GO:0035256, GO:0030160, GO:0019904, GO:0005515, GO:0003779, protein-containing complex binding, identical protein binding, G protein-coupled glutamate receptor binding, synaptic receptor adaptor activity, protein domain specific binding, protein binding, actin binding, GO:2001256, GO:0070885, GO:0048875, GO:0048148, GO:0035584, GO:0032703, GO:0008277, GO:0007605, GO:0007216, regulation of store-operated calcium entry, negative regulation of calcineurin-NFAT signaling cascade, chemical homeostasis within a tissue, behavioral response to cocaine, calcium-mediated signaling using intracellular calcium source, negative regulation of interleukin-2 production, regulation of G protein-coupled receptor signaling pathway, sensory perception of sound, G protein-coupled glutamate receptor signaling pathway, 9 11 6 15 16 8 12 11 16 ENSG00000103966 chr15 41895939 41972578 - EHD4 protein_coding 30844 GO:0070062, GO:0055038, GO:0055038, GO:0048471, GO:0043231, GO:0031901, GO:0030139, GO:0016020, GO:0005886, GO:0005886, GO:0005783, GO:0005769, GO:0005737, GO:0005634, extracellular exosome, recycling endosome membrane, recycling endosome membrane, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, early endosome membrane, endocytic vesicle, membrane, plasma membrane, plasma membrane, endoplasmic reticulum, early endosome, cytoplasm, nucleus, GO:0045296, GO:0005525, GO:0005524, GO:0005515, GO:0005509, GO:0003676, cadherin binding, GTP binding, ATP binding, protein binding, calcium ion binding, nucleic acid binding, GO:0072659, GO:0071363, GO:0060271, GO:0051260, GO:0050731, GO:0032456, GO:0032456, GO:0030100, GO:0016197, GO:0006907, GO:0006897, protein localization to plasma membrane, cellular response to growth factor stimulus, cilium assembly, protein homooligomerization, positive regulation of peptidyl-tyrosine phosphorylation, endocytic recycling, endocytic recycling, regulation of endocytosis, endosomal transport, pinocytosis, endocytosis, 207 108 421 105 65 184 109 37 88 ENSG00000103978 chr15 42210452 42273663 - TMEM87A protein_coding 25963 GO:0032580, GO:0032580, GO:0016021, GO:0016020, GO:0005829, GO:0005794, Golgi cisterna membrane, Golgi cisterna membrane, integral component of membrane, membrane, cytosol, Golgi apparatus, GO:0042147, GO:0042147, GO:0006810, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, transport, 289 280 385 290 276 415 256 234 308 ENSG00000103994 chr15 42412823 42491141 - ZNF106 protein_coding 64397 GO:0016607, GO:0016020, GO:0005829, GO:0005730, nuclear speck, membrane, cytosol, nucleolus, GO:0046872, GO:0017124, GO:0003723, metal ion binding, SH3 domain binding, RNA binding, GO:0008286, insulin receptor signaling pathway, 2285 2010 2300 1093 2056 1758 1705 1365 1724 ENSG00000103995 chr15 48712928 48811146 - CEP152 protein_coding This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]. 22995 GO:0098536, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005654, GO:0000242, deuterosome, cytosol, centriole, centrosome, centrosome, nucleoplasm, pericentriolar material, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0098535, GO:0097711, GO:0051298, GO:0010389, GO:0007099, GO:0007099, GO:0000086, de novo centriole assembly involved in multi-ciliated epithelial cell differentiation, ciliary basal body-plasma membrane docking, centrosome duplication, regulation of G2/M transition of mitotic cell cycle, centriole replication, centriole replication, G2/M transition of mitotic cell cycle, 81 93 109 112 99 105 102 69 56 ENSG00000104043 chr15 49858238 50182817 - ATP8B4 protein_coding This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 79895 GO:0070821, GO:0035579, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005802, GO:0005794, tertiary granule membrane, specific granule membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, Golgi apparatus, GO:0140326, GO:0005524, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATP binding, magnesium ion binding, GO:0045332, GO:0043312, GO:0007030, phospholipid translocation, neutrophil degranulation, Golgi organization, 87 197 166 66 160 140 67 156 144 ENSG00000104044 chr15 27754875 28099358 - OCA2 protein_coding This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 4948 GO:0033162, GO:0016021, GO:0010008, GO:0005789, GO:0005765, GO:0005737, melanosome membrane, integral component of membrane, endosome membrane, endoplasmic reticulum membrane, lysosomal membrane, cytoplasm, GO:0005515, GO:0005302, GO:0005215, protein binding, L-tyrosine transmembrane transporter activity, transporter activity, GO:0055085, GO:0042438, GO:0030318, GO:0015828, GO:0008283, GO:0007286, GO:0006726, transmembrane transport, melanin biosynthetic process, melanocyte differentiation, tyrosine transport, cell population proliferation, spermatid development, eye pigment biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000104047 chr15 49620980 49656232 + DTWD1 protein_coding 56986 GO:0005634, GO:0005634, nucleus, nucleus, GO:0016432, GO:0016432, tRNA-uridine aminocarboxypropyltransferase activity, tRNA-uridine aminocarboxypropyltransferase activity, GO:0006400, GO:0006400, tRNA modification, tRNA modification, 9 19 8 31 12 47 27 4 38 ENSG00000104055 chr15 43232595 43266857 - TGM5 protein_coding This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]. 9333 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0046872, GO:0005515, GO:0003810, metal ion binding, protein binding, protein-glutamine gamma-glutamyltransferase activity, GO:0070268, GO:0018149, GO:0008544, GO:0006464, cornification, peptide cross-linking, epidermis development, cellular protein modification process, 0 0 4 0 0 0 0 0 0 ENSG00000104059 chr15 29120254 29570723 - FAM189A1 protein_coding 23359 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000104064 chr15 50275392 50355408 - GABPB1 protein_coding This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 2553 GO:0036464, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytoplasmic ribonucleoprotein granule, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0000976, GO:0000976, protein binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0007005, GO:0007005, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, mitochondrion organization, mitochondrion organization, 121 83 273 145 93 167 99 108 122 ENSG00000104067 chr15 29699367 29968865 - TJP1 protein_coding This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]. 7082 GO:0070160, GO:0070160, GO:0045177, GO:0043296, GO:0042995, GO:0032991, GO:0030054, GO:0030054, GO:0016323, GO:0005923, GO:0005923, GO:0005921, GO:0005912, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0002102, tight junction, tight junction, apical part of cell, apical junction complex, cell projection, protein-containing complex, cell junction, cell junction, basolateral plasma membrane, bicellular tight junction, bicellular tight junction, gap junction, adherens junction, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, podosome, GO:0050839, GO:0045296, GO:0005516, GO:0005515, cell adhesion molecule binding, cadherin binding, calmodulin binding, protein binding, GO:2000810, GO:2000810, GO:2000250, GO:2000049, GO:1905605, GO:1905605, GO:1903672, GO:1902396, GO:1901888, GO:0150105, GO:0150105, GO:0098609, GO:0090557, GO:0090557, GO:0071896, GO:0051497, GO:0051493, GO:0045216, GO:0045216, GO:0043066, GO:0035633, GO:0035329, GO:0034334, GO:0031032, GO:0030335, GO:0008284, GO:0007043, regulation of bicellular tight junction assembly, regulation of bicellular tight junction assembly, negative regulation of actin cytoskeleton reorganization, positive regulation of cell-cell adhesion mediated by cadherin, positive regulation of blood-brain barrier permeability, positive regulation of blood-brain barrier permeability, positive regulation of sprouting angiogenesis, protein localization to bicellular tight junction, regulation of cell junction assembly, protein localization to cell-cell junction, protein localization to cell-cell junction, cell-cell adhesion, establishment of endothelial intestinal barrier, establishment of endothelial intestinal barrier, protein localization to adherens junction, negative regulation of stress fiber assembly, regulation of cytoskeleton organization, cell-cell junction organization, cell-cell junction organization, negative regulation of apoptotic process, maintenance of blood-brain barrier, hippo signaling, adherens junction maintenance, actomyosin structure organization, positive regulation of cell migration, positive regulation of cell population proliferation, cell-cell junction assembly, 0 0 0 0 0 0 0 0 0 ENSG00000104081 chr15 40087890 40108892 - BMF protein_coding The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 90427 GO:0016459, GO:0016459, GO:0005886, GO:0005829, GO:0005741, GO:0001669, myosin complex, myosin complex, plasma membrane, cytosol, mitochondrial outer membrane, acrosomal vesicle, GO:0005515, protein binding, GO:2001244, GO:0090200, GO:0043276, GO:0043065, GO:0043065, GO:0034644, GO:0031334, GO:0010507, GO:0010507, GO:0001844, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of release of cytochrome c from mitochondria, anoikis, positive regulation of apoptotic process, positive regulation of apoptotic process, cellular response to UV, positive regulation of protein-containing complex assembly, negative regulation of autophagy, negative regulation of autophagy, protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, 226 253 736 148 208 220 123 152 145 ENSG00000104093 chr15 51447711 51622833 - DMXL2 protein_coding This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 23312 GO:0098992, GO:0043291, GO:0030672, GO:0008021, GO:0005615, neuronal dense core vesicle, RAVE complex, synaptic vesicle membrane, synaptic vesicle, extracellular space, GO:0031267, small GTPase binding, GO:0007035, vacuolar acidification, 4276 3420 4578 3218 3715 3821 3959 2595 3447 ENSG00000104112 chr15 51681353 51721031 + SCG3 protein_coding The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 29106 GO:0034774, GO:0030667, GO:0030658, GO:0005788, GO:0005576, secretory granule lumen, secretory granule membrane, transport vesicle membrane, endoplasmic reticulum lumen, extracellular region, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0044267, GO:0043687, GO:0033366, GO:0002576, cellular protein metabolic process, post-translational protein modification, protein localization to secretory granule, platelet degranulation, 3 4 5 0 1 0 0 1 0 ENSG00000104129 chr15 40765155 40807478 - DNAJC17 protein_coding 55192 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:1901998, GO:0000122, toxin transport, negative regulation of transcription by RNA polymerase II, 31 46 54 61 48 87 23 51 58 ENSG00000104131 chr15 44537057 44563029 + EIF3J protein_coding This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]. 8669 GO:0033290, GO:0016282, GO:0005852, GO:0005852, GO:0005829, GO:0005829, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, cytosol, GO:0042802, GO:0005515, GO:0003743, identical protein binding, protein binding, translation initiation factor activity, GO:0006413, GO:0006413, GO:0001732, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, 455 381 665 403 338 406 345 255 337 ENSG00000104133 chr15 44562696 44663678 - SPG11 protein_coding The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 80208 GO:0045202, GO:0045202, GO:0031410, GO:0030425, GO:0030424, GO:0005886, GO:0005829, GO:0005829, GO:0005765, GO:0005737, GO:0005737, GO:0005730, synapse, synapse, cytoplasmic vesicle, dendrite, axon, plasma membrane, cytosol, cytosol, lysosomal membrane, cytoplasm, cytoplasm, nucleolus, GO:0005515, protein binding, GO:0090659, GO:0090389, GO:0048675, GO:0048489, GO:0048489, GO:0008088, GO:0008088, GO:0007268, GO:0007268, walking behavior, phagosome-lysosome fusion involved in apoptotic cell clearance, axon extension, synaptic vesicle transport, synaptic vesicle transport, axo-dendritic transport, axo-dendritic transport, chemical synaptic transmission, chemical synaptic transmission, 1727 1804 2243 1297 1611 1518 1343 1173 1329 ENSG00000104140 chr15 40872214 40874289 - RHOV protein_coding 171177 GO:0010008, GO:0005886, GO:0005829, endosome membrane, plasma membrane, cytosol, GO:0046872, GO:0005525, GO:0005515, GO:0003924, metal ion binding, GTP binding, protein binding, GTPase activity, GO:0051056, GO:0032488, GO:0030031, GO:0016477, GO:0006897, regulation of small GTPase mediated signal transduction, Cdc42 protein signal transduction, cell projection assembly, cell migration, endocytosis, 5 1 44 1 2 0 0 2 4 ENSG00000104142 chr15 40894430 40903975 + VPS18 protein_coding Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]. 57617 GO:0098978, GO:0098978, GO:0098978, GO:0033263, GO:0031902, GO:0030897, GO:0030897, GO:0030136, GO:0030123, GO:0005884, GO:0005776, GO:0005770, GO:0005769, GO:0005768, GO:0005765, GO:0005764, glutamatergic synapse, glutamatergic synapse, glutamatergic synapse, CORVET complex, late endosome membrane, HOPS complex, HOPS complex, clathrin-coated vesicle, AP-3 adaptor complex, actin filament, autophagosome, late endosome, early endosome, endosome, lysosomal membrane, lysosome, GO:0046872, GO:0030674, GO:0019905, GO:0005515, GO:0003779, metal ion binding, protein-macromolecule adaptor activity, syntaxin binding, protein binding, actin binding, GO:2000300, GO:2000300, GO:2000300, GO:0046718, GO:0035542, GO:0008333, GO:0007040, GO:0007040, GO:0007033, GO:0007032, GO:0007032, GO:0006914, GO:0006904, GO:0006886, regulation of synaptic vesicle exocytosis, regulation of synaptic vesicle exocytosis, regulation of synaptic vesicle exocytosis, viral entry into host cell, regulation of SNARE complex assembly, endosome to lysosome transport, lysosome organization, lysosome organization, vacuole organization, endosome organization, endosome organization, autophagy, vesicle docking involved in exocytosis, intracellular protein transport, 1899 2810 1953 9533 9397 9507 11870 9928 7896 ENSG00000104147 chr15 41309268 41332621 - OIP5 protein_coding The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregulated in several cancers, making it a putative therapeutic target. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 11339 GO:0043231, GO:0016607, GO:0015030, GO:0010369, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000775, intracellular membrane-bounded organelle, nuclear speck, Cajal body, chromocenter, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromosome, centromeric region, GO:0046872, GO:0042802, GO:0005515, metal ion binding, identical protein binding, protein binding, GO:0051301, GO:0034080, GO:0034080, GO:0007154, GO:0007059, GO:0007049, cell division, CENP-A containing nucleosome assembly, CENP-A containing nucleosome assembly, cell communication, chromosome segregation, cell cycle, 3 7 5 2 3 0 6 2 7 ENSG00000104154 chr15 45479611 45522807 - SLC30A4 protein_coding Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]. 7782 GO:0031902, GO:0016021, GO:0005886, GO:0005770, GO:0005765, GO:0005737, late endosome membrane, integral component of membrane, plasma membrane, late endosome, lysosomal membrane, cytoplasm, GO:0005515, GO:0005385, protein binding, zinc ion transmembrane transporter activity, GO:0071577, GO:0061088, GO:0061088, GO:0055069, GO:0010043, GO:0009636, zinc ion transmembrane transport, regulation of sequestering of zinc ion, regulation of sequestering of zinc ion, zinc ion homeostasis, response to zinc ion, response to toxic substance, 6 6 22 23 6 37 15 10 11 ENSG00000104164 chr15 45587123 45615999 + BLOC1S6 protein_coding The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]. 26258 GO:1904115, GO:0098793, GO:0031201, GO:0031083, GO:0031083, GO:0030133, GO:0030133, GO:0019898, GO:0019898, GO:0005829, GO:0005737, axon cytoplasm, presynapse, SNARE complex, BLOC-1 complex, BLOC-1 complex, transport vesicle, transport vesicle, extrinsic component of membrane, extrinsic component of membrane, cytosol, cytoplasm, GO:0051015, GO:0042803, GO:0042803, GO:0042802, GO:0019905, GO:0005515, actin filament binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, syntaxin binding, protein binding, GO:0050942, GO:0048490, GO:0046907, GO:0035646, GO:0032438, GO:0032402, GO:0031175, GO:0016081, GO:0008089, positive regulation of pigment cell differentiation, anterograde synaptic vesicle transport, intracellular transport, endosome to melanosome transport, melanosome organization, melanosome transport, neuron projection development, synaptic vesicle docking, anterograde axonal transport, 875 1088 1060 2475 2898 3091 2424 1872 1983 ENSG00000104177 chr15 48134631 48178517 - MYEF2 protein_coding 50804 GO:1990904, GO:0071014, GO:0005737, GO:0005634, GO:0005634, ribonucleoprotein complex, post-mRNA release spliceosomal complex, cytoplasm, nucleus, nucleus, GO:0003729, GO:0003723, GO:0003697, mRNA binding, RNA binding, single-stranded DNA binding, GO:2000815, GO:0030182, GO:0014902, GO:0006357, regulation of mRNA stability involved in response to oxidative stress, neuron differentiation, myotube differentiation, regulation of transcription by RNA polymerase II, 26 18 29 42 11 67 75 7 24 ENSG00000104205 chr8 66667596 66862022 + SGK3 protein_coding This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 23678 GO:0055037, GO:0043231, GO:0005829, GO:0005769, GO:0005654, recycling endosome, intracellular membrane-bounded organelle, cytosol, early endosome, nucleoplasm, GO:0106311, GO:0106310, GO:0035091, GO:0017081, GO:0017080, GO:0015459, GO:0015459, GO:0005524, GO:0005515, GO:0005246, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, phosphatidylinositol binding, chloride channel regulator activity, sodium channel regulator activity, potassium channel regulator activity, potassium channel regulator activity, ATP binding, protein binding, calcium channel regulator activity, protein serine/threonine kinase activity, protein kinase activity, GO:0051090, GO:0042127, GO:0035556, GO:0034220, GO:0030334, GO:0018105, GO:0006468, GO:0001558, regulation of DNA-binding transcription factor activity, regulation of cell population proliferation, intracellular signal transduction, ion transmembrane transport, regulation of cell migration, peptidyl-serine phosphorylation, protein phosphorylation, regulation of cell growth, 102 111 160 106 85 126 93 75 115 ENSG00000104213 chr8 17576433 17644071 + PDGFRL protein_coding This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]. 5157 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005019, GO:0004992, platelet-derived growth factor beta-receptor activity, platelet activating factor receptor activity, GO:0035791, GO:0008150, GO:0007186, platelet-derived growth factor receptor-beta signaling pathway, biological_process, G protein-coupled receptor signaling pathway, 0 0 1 0 0 0 0 0 0 ENSG00000104218 chr8 67062426 67196263 + CSPP1 protein_coding This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. 79848 GO:0005874, GO:0005819, GO:0005813, GO:0005813, GO:0005737, GO:0000922, GO:0000922, microtubule, spindle, centrosome, centrosome, cytoplasm, spindle pole, spindle pole, GO:0051781, GO:0032467, GO:0032467, positive regulation of cell division, positive regulation of cytokinesis, positive regulation of cytokinesis, 31 32 49 57 33 53 59 25 65 ENSG00000104219 chr8 17156029 17224799 + ZDHHC2 protein_coding 51201 GO:0098837, GO:0055038, GO:0014069, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0000139, postsynaptic recycling endosome, recycling endosome membrane, postsynaptic density, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0042803, GO:0019706, GO:0019706, GO:0016409, GO:0016409, protein homodimerization activity, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, palmitoyltransferase activity, GO:1905751, GO:1904719, GO:1903539, GO:1903076, GO:1900273, GO:0072659, GO:0048168, GO:0044267, GO:0042176, GO:0022407, GO:0018345, GO:0018230, GO:0018230, GO:0018230, GO:0016188, GO:0006612, positive regulation of endosome to plasma membrane protein transport, positive regulation of AMPA glutamate receptor clustering, protein localization to postsynaptic membrane, regulation of protein localization to plasma membrane, positive regulation of long-term synaptic potentiation, protein localization to plasma membrane, regulation of neuronal synaptic plasticity, cellular protein metabolic process, regulation of protein catabolic process, regulation of cell-cell adhesion, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, synaptic vesicle maturation, protein targeting to membrane, 180 158 243 157 111 210 203 83 177 ENSG00000104221 chr8 37843268 37849904 - BRF2 protein_coding This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]. 55290 GO:0097550, GO:0005654, GO:0005634, GO:0000126, transcription preinitiation complex, nucleoplasm, nucleus, transcription factor TFIIIB complex, GO:0046872, GO:0017025, GO:0001006, metal ion binding, TBP-class protein binding, RNA polymerase III type 3 promoter sequence-specific DNA binding, GO:0034599, GO:0006359, GO:0006352, cellular response to oxidative stress, regulation of transcription by RNA polymerase III, DNA-templated transcription, initiation, 38 38 48 75 177 133 95 111 84 ENSG00000104228 chr8 27284887 27311319 - TRIM35 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq, Jul 2008]. 23087 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0061630, GO:0008270, GO:0003674, ubiquitin protein ligase activity, zinc ion binding, molecular_function, GO:1902187, GO:0045930, GO:0045087, GO:0045087, GO:0043065, GO:0043065, GO:0016567, GO:0006915, negative regulation of viral release from host cell, negative regulation of mitotic cell cycle, innate immune response, innate immune response, positive regulation of apoptotic process, positive regulation of apoptotic process, protein ubiquitination, apoptotic process, 17 13 33 45 31 93 66 35 66 ENSG00000104231 chr8 81701334 81732903 - ZFAND1 protein_coding 79752 GO:0010494, cytoplasmic stress granule, GO:0070628, GO:0008270, GO:0005515, proteasome binding, zinc ion binding, protein binding, GO:1903843, GO:0090316, GO:0071470, GO:0035617, GO:0034605, GO:0034599, cellular response to arsenite ion, positive regulation of intracellular protein transport, cellular response to osmotic stress, stress granule disassembly, cellular response to heat, cellular response to oxidative stress, 38 30 36 76 32 53 40 20 37 ENSG00000104237 chr8 54509422 54871720 + RP1 protein_coding This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]. 6101 GO:0097542, GO:0032391, GO:0005930, GO:0005875, GO:0005874, GO:0001917, GO:0001750, ciliary tip, photoreceptor connecting cilium, axoneme, microtubule associated complex, microtubule, photoreceptor inner segment, photoreceptor outer segment, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:1902857, GO:0071482, GO:0060041, GO:0046549, GO:0046548, GO:0045494, GO:0042461, GO:0042461, GO:0035845, GO:0035556, GO:0035082, GO:0035082, GO:0007603, GO:0007601, positive regulation of non-motile cilium assembly, cellular response to light stimulus, retina development in camera-type eye, retinal cone cell development, retinal rod cell development, photoreceptor cell maintenance, photoreceptor cell development, photoreceptor cell development, photoreceptor cell outer segment organization, intracellular signal transduction, axoneme assembly, axoneme assembly, phototransduction, visible light, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000104267 chr8 85463852 85481493 + CA2 protein_coding The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. 760 GO:0070062, GO:0045177, GO:0045177, GO:0043209, GO:0030424, GO:0016323, GO:0005902, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, apical part of cell, apical part of cell, myelin sheath, axon, basolateral plasma membrane, microvillus, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0016836, GO:0008270, GO:0005515, GO:0004089, GO:0004089, GO:0004064, hydro-lyase activity, zinc ion binding, protein binding, carbonate dehydratase activity, carbonate dehydratase activity, arylesterase activity, GO:2001225, GO:2001150, GO:0071498, GO:0051453, GO:0051453, GO:0048545, GO:0046903, GO:0045780, GO:0045672, GO:0044070, GO:0043627, GO:0042475, GO:0038166, GO:0032849, GO:0032230, GO:0015701, GO:0015670, GO:0010043, GO:0009268, GO:0006730, GO:0002009, GO:0001822, regulation of chloride transport, positive regulation of dipeptide transmembrane transport, cellular response to fluid shear stress, regulation of intracellular pH, regulation of intracellular pH, response to steroid hormone, secretion, positive regulation of bone resorption, positive regulation of osteoclast differentiation, regulation of anion transport, response to estrogen, odontogenesis of dentin-containing tooth, angiotensin-activated signaling pathway, positive regulation of cellular pH reduction, positive regulation of synaptic transmission, GABAergic, bicarbonate transport, carbon dioxide transport, response to zinc ion, response to pH, one-carbon metabolic process, morphogenesis of an epithelium, kidney development, 65 73 158 52 50 117 55 62 134 ENSG00000104290 chr8 28494205 28574268 + FZD3 protein_coding This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]. 7976 GO:0048786, GO:0043025, GO:0032433, GO:0030425, GO:0030424, GO:0016328, GO:0016324, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005737, presynaptic active zone, neuronal cell body, filopodium tip, dendrite, axon, lateral plasma membrane, apical plasma membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042813, GO:0042813, GO:0042813, GO:0030165, GO:0017147, GO:0017147, GO:0017147, GO:0005515, GO:0004930, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, PDZ domain binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, protein binding, G protein-coupled receptor activity, GO:1904938, GO:1904693, GO:1900118, GO:0071679, GO:0061549, GO:0060071, GO:0060070, GO:0060070, GO:0051602, GO:0045976, GO:0042493, GO:0042472, GO:0036515, GO:0036514, GO:0036342, GO:0035567, GO:0033278, GO:0030182, GO:0007223, GO:0007186, GO:0002052, GO:0001942, GO:0001843, GO:0001764, GO:0001736, planar cell polarity pathway involved in axon guidance, midbrain morphogenesis, negative regulation of execution phase of apoptosis, commissural neuron axon guidance, sympathetic ganglion development, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, response to electrical stimulus, negative regulation of mitotic cell cycle, embryonic, response to drug, inner ear morphogenesis, serotonergic neuron axon guidance, dopaminergic neuron axon guidance, post-anal tail morphogenesis, non-canonical Wnt signaling pathway, cell proliferation in midbrain, neuron differentiation, Wnt signaling pathway, calcium modulating pathway, G protein-coupled receptor signaling pathway, positive regulation of neuroblast proliferation, hair follicle development, neural tube closure, neuron migration, establishment of planar polarity, 2 3 4 18 14 6 23 10 13 ENSG00000104299 chr8 28767661 28890242 - INTS9 protein_coding This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]. 55756 GO:0032039, GO:0005829, GO:0005654, GO:0005654, GO:0005634, integrator complex, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0042795, GO:0016180, snRNA transcription by RNA polymerase II, snRNA processing, 53 87 79 83 93 97 102 67 64 ENSG00000104312 chr8 89757747 89791063 + RIPK2 protein_coding This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]. 8767 GO:0032991, GO:0032991, GO:0031982, GO:0005856, GO:0005829, GO:0005829, GO:0005737, protein-containing complex, protein-containing complex, vesicle, cytoskeleton, cytosol, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0089720, GO:0050700, GO:0050700, GO:0042803, GO:0042802, GO:0030274, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004706, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, caspase binding, CARD domain binding, CARD domain binding, protein homodimerization activity, identical protein binding, LIM domain binding, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, JUN kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1904417, GO:0097202, GO:0071225, GO:0071224, GO:0071223, GO:0070673, GO:0070671, GO:0070498, GO:0070431, GO:0070427, GO:0070423, GO:0070374, GO:0051092, GO:0051092, GO:0051092, GO:0051092, GO:0050852, GO:0050852, GO:0050830, GO:0050731, GO:0046641, GO:0045944, GO:0045627, GO:0045087, GO:0045087, GO:0045087, GO:0043330, GO:0043123, GO:0043066, GO:0043065, GO:0042098, GO:0034142, GO:0034134, GO:0033138, GO:0033091, GO:0032760, GO:0032755, GO:0032743, GO:0032735, GO:0032731, GO:0032729, GO:0032728, GO:0032727, GO:0032722, GO:0032092, GO:0031663, GO:0031398, GO:0031398, GO:0018108, GO:0010942, GO:0010800, GO:0007257, GO:0007256, GO:0007254, GO:0007249, GO:0007165, GO:0006954, GO:0006915, GO:0002250, GO:0002250, GO:0001961, GO:0000187, positive regulation of xenophagy, activation of cysteine-type endopeptidase activity, cellular response to muramyl dipeptide, cellular response to peptidoglycan, cellular response to lipoteichoic acid, response to interleukin-18, response to interleukin-12, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing 2 signaling pathway, nucleotide-binding oligomerization domain containing 1 signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, T cell receptor signaling pathway, defense response to Gram-positive bacterium, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of alpha-beta T cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of T-helper 1 cell differentiation, innate immune response, innate immune response, innate immune response, response to exogenous dsRNA, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of apoptotic process, T cell proliferation, toll-like receptor 4 signaling pathway, toll-like receptor 2 signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of immature T cell proliferation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-2 production, positive regulation of interleukin-12 production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of chemokine production, positive regulation of protein binding, lipopolysaccharide-mediated signaling pathway, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, peptidyl-tyrosine phosphorylation, positive regulation of cell death, positive regulation of peptidyl-threonine phosphorylation, activation of JUN kinase activity, activation of JNKK activity, JNK cascade, I-kappaB kinase/NF-kappaB signaling, signal transduction, inflammatory response, apoptotic process, adaptive immune response, adaptive immune response, positive regulation of cytokine-mediated signaling pathway, activation of MAPK activity, 736 475 854 239 260 321 312 224 323 ENSG00000104313 chr8 71197433 71592025 - EYA1 protein_coding This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]. 2138 GO:0032993, GO:0016604, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein-DNA complex, nuclear body, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004725, GO:0004725, GO:0003723, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, RNA binding, GO:2001240, GO:0090103, GO:0072513, GO:0071600, GO:0060037, GO:0050679, GO:0048856, GO:0048752, GO:0048704, GO:0048665, GO:0045944, GO:0045739, GO:0045739, GO:0045664, GO:0042474, GO:0042473, GO:0035909, GO:0035335, GO:0030154, GO:0016925, GO:0016576, GO:0016576, GO:0014706, GO:0010212, GO:0009653, GO:0007605, GO:0007501, GO:0007389, GO:0006302, GO:0003151, GO:0001658, GO:0001656, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, cochlea morphogenesis, positive regulation of secondary heart field cardioblast proliferation, otic vesicle morphogenesis, pharyngeal system development, positive regulation of epithelial cell proliferation, anatomical structure development, semicircular canal morphogenesis, embryonic skeletal system morphogenesis, neuron fate specification, positive regulation of transcription by RNA polymerase II, positive regulation of DNA repair, positive regulation of DNA repair, regulation of neuron differentiation, middle ear morphogenesis, outer ear morphogenesis, aorta morphogenesis, peptidyl-tyrosine dephosphorylation, cell differentiation, protein sumoylation, histone dephosphorylation, histone dephosphorylation, striated muscle tissue development, response to ionizing radiation, anatomical structure morphogenesis, sensory perception of sound, mesodermal cell fate specification, pattern specification process, double-strand break repair, outflow tract morphogenesis, branching involved in ureteric bud morphogenesis, metanephros development, 0 0 0 2 0 0 0 2 0 ENSG00000104320 chr8 89933336 90003228 - NBN protein_coding Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]. 4683 GO:0042405, GO:0035861, GO:0030870, GO:0030870, GO:0030870, GO:0016605, GO:0005829, GO:0005730, GO:0005657, GO:0005654, GO:0005634, GO:0000781, GO:0000781, GO:0000781, GO:0000781, nuclear inclusion body, site of double-strand break, Mre11 complex, Mre11 complex, Mre11 complex, PML body, cytosol, nucleolus, replication fork, nucleoplasm, nucleus, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, GO:0047485, GO:0008134, GO:0005515, GO:0003684, GO:0003684, protein N-terminus binding, transcription factor binding, protein binding, damaged DNA binding, damaged DNA binding, GO:1904354, GO:1901796, GO:0097193, GO:0090737, GO:0090656, GO:0051321, GO:0050885, GO:0045190, GO:0042770, GO:0033674, GO:0032508, GO:0032508, GO:0032206, GO:0031954, GO:0031860, GO:0030330, GO:0030174, GO:0016233, GO:0016032, GO:0008283, GO:0007095, GO:0007095, GO:0007093, GO:0007050, GO:0006303, GO:0006302, GO:0006260, GO:0001832, GO:0000729, GO:0000724, GO:0000724, GO:0000723, GO:0000077, negative regulation of telomere capping, regulation of signal transduction by p53 class mediator, intrinsic apoptotic signaling pathway, telomere maintenance via telomere trimming, t-circle formation, meiotic cell cycle, neuromuscular process controlling balance, isotype switching, signal transduction in response to DNA damage, positive regulation of kinase activity, DNA duplex unwinding, DNA duplex unwinding, positive regulation of telomere maintenance, positive regulation of protein autophosphorylation, telomeric 3' overhang formation, DNA damage response, signal transduction by p53 class mediator, regulation of DNA-dependent DNA replication initiation, telomere capping, viral process, cell population proliferation, mitotic G2 DNA damage checkpoint, mitotic G2 DNA damage checkpoint, mitotic cell cycle checkpoint, cell cycle arrest, double-strand break repair via nonhomologous end joining, double-strand break repair, DNA replication, blastocyst growth, DNA double-strand break processing, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance, DNA damage checkpoint, 1290 1083 4070 420 600 891 469 586 951 ENSG00000104321 chr8 72019917 72075617 - TRPA1 protein_coding The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008]. 8989 GO:0032421, GO:0005887, GO:0005886, stereocilium bundle, integral component of plasma membrane, plasma membrane, GO:0097604, GO:0042802, GO:0015278, GO:0015278, GO:0015267, temperature-gated cation channel activity, identical protein binding, calcium-release channel activity, calcium-release channel activity, channel activity, GO:0070588, GO:0070588, GO:0051289, GO:0051209, GO:0050968, GO:0050966, GO:0050955, GO:0048265, GO:0042542, GO:0042493, GO:0019233, GO:0014070, GO:0010033, GO:0009409, GO:0007166, GO:0006811, calcium ion transmembrane transport, calcium ion transmembrane transport, protein homotetramerization, release of sequestered calcium ion into cytosol, detection of chemical stimulus involved in sensory perception of pain, detection of mechanical stimulus involved in sensory perception of pain, thermoception, response to pain, response to hydrogen peroxide, response to drug, sensory perception of pain, response to organic cyclic compound, response to organic substance, response to cold, cell surface receptor signaling pathway, ion transport, 0 0 1 0 2 5 1 2 3 ENSG00000104324 chr8 96645227 97149654 + CPQ protein_coding This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]. 10404 GO:0070062, GO:0043231, GO:0005794, GO:0005794, GO:0005783, GO:0005764, GO:0005737, GO:0005615, GO:0005615, GO:0005615, extracellular exosome, intracellular membrane-bounded organelle, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, lysosome, cytoplasm, extracellular space, extracellular space, extracellular space, GO:0070573, GO:0070573, GO:0046872, GO:0042803, GO:0004180, metallodipeptidase activity, metallodipeptidase activity, metal ion binding, protein homodimerization activity, carboxypeptidase activity, GO:0043171, GO:0043171, GO:0042246, GO:0006590, GO:0006590, GO:0006508, GO:0006508, peptide catabolic process, peptide catabolic process, tissue regeneration, thyroid hormone generation, thyroid hormone generation, proteolysis, proteolysis, 1712 1713 2138 406 905 667 591 1007 668 ENSG00000104325 chr8 90001405 90052092 + DECR1 protein_coding This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]. 1666 GO:1902494, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005654, GO:0005634, catalytic complex, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, nucleus, GO:0070402, GO:0042802, GO:0008670, NADPH binding, identical protein binding, 2,4-dienoyl-CoA reductase (NADPH) activity, GO:0120162, GO:0006635, GO:0006635, positive regulation of cold-induced thermogenesis, fatty acid beta-oxidation, fatty acid beta-oxidation, 680 535 705 592 755 727 661 597 626 ENSG00000104327 chr8 90058608 90095475 - CALB1 protein_coding The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]. 793 GO:0099523, GO:0070062, GO:0045202, GO:0043197, GO:0043195, GO:0043025, GO:0043005, GO:0032437, GO:0032420, GO:0030425, GO:0030425, GO:0030424, GO:0030424, GO:0005829, GO:0005829, GO:0005634, GO:0005634, presynaptic cytosol, extracellular exosome, synapse, dendritic spine, terminal bouton, neuronal cell body, neuron projection, cuticular plate, stereocilium, dendrite, dendrite, axon, axon, cytosol, cytosol, nucleus, nucleus, GO:0008270, GO:0005515, GO:0005509, GO:0005509, GO:0005509, GO:0005499, zinc ion binding, protein binding, calcium ion binding, calcium ion binding, calcium ion binding, vitamin D binding, GO:1900271, GO:0099509, GO:0090102, GO:0072286, GO:0072221, GO:0072205, GO:0071310, GO:0051480, GO:0044267, GO:0035502, GO:0010842, GO:0007626, GO:0007616, GO:0007614, regulation of long-term synaptic potentiation, regulation of presynaptic cytosolic calcium ion concentration, cochlea development, metanephric connecting tubule development, metanephric distal convoluted tubule development, metanephric collecting duct development, cellular response to organic substance, regulation of cytosolic calcium ion concentration, cellular protein metabolic process, metanephric part of ureteric bud development, retina layer formation, locomotory behavior, long-term memory, short-term memory, 6 8 8 4 8 3 7 6 3 ENSG00000104331 chr8 56957933 56993844 - IMPAD1 protein_coding This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]. 54928 GO:0032588, GO:0016604, GO:0016021, GO:0016020, GO:0012505, GO:0005829, GO:0005796, GO:0005794, GO:0005654, trans-Golgi network membrane, nuclear body, integral component of membrane, membrane, endomembrane system, cytosol, Golgi lumen, Golgi apparatus, nucleoplasm, GO:0097657, GO:0046872, GO:0008441, GO:0008254, 3',5'-nucleotide bisphosphate phosphatase activity, metal ion binding, 3'(2'),5'-bisphosphate nucleotidase activity, 3'-nucleotidase activity, GO:0050427, GO:0046855, GO:0046854, GO:0042733, GO:0030204, GO:0009791, GO:0002063, GO:0001958, GO:0001501, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, inositol phosphate dephosphorylation, phosphatidylinositol phosphorylation, embryonic digit morphogenesis, chondroitin sulfate metabolic process, post-embryonic development, chondrocyte development, endochondral ossification, skeletal system development, 96 134 157 118 56 113 102 101 75 ENSG00000104332 chr8 41261958 41309497 - SFRP1 protein_coding This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]. 6422 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0009986, GO:0005886, GO:0005829, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, cell surface, plasma membrane, cytosol, extracellular space, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0017147, GO:0017147, GO:0017147, GO:0017147, GO:0008201, GO:0005515, GO:0005109, GO:0004197, identical protein binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, heparin binding, protein binding, frizzled binding, cysteine-type endopeptidase activity, GO:2000271, GO:2000270, GO:2000080, GO:2000054, GO:2000052, GO:2000041, GO:1904956, GO:1902043, GO:0090263, GO:0090263, GO:0090246, GO:0090244, GO:0090179, GO:0090090, GO:0090090, GO:0090090, GO:0090090, GO:0071773, GO:0071560, GO:0071542, GO:0071504, GO:0071481, GO:0071456, GO:0071392, GO:0071391, GO:0071380, GO:0071363, GO:0071356, GO:0071347, GO:0071305, GO:0060766, GO:0060687, GO:0060527, GO:0060346, GO:0060218, GO:0060070, GO:0060070, GO:0051894, GO:0051496, GO:0050732, GO:0050680, GO:0050679, GO:0048546, GO:0048147, GO:0046851, GO:0046676, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045880, GO:0045765, GO:0045671, GO:0045668, GO:0045600, GO:0045578, GO:0044345, GO:0044344, GO:0043547, GO:0043508, GO:0043066, GO:0043065, GO:0043065, GO:0042493, GO:0035567, GO:0035019, GO:0033689, GO:0030514, GO:0030336, GO:0030308, GO:0030307, GO:0030279, GO:0030279, GO:0030178, GO:0030178, GO:0030177, GO:0014070, GO:0014034, GO:0010975, GO:0010719, GO:0010629, GO:0010564, GO:0009950, GO:0009267, GO:0008585, GO:0008584, GO:0008285, GO:0008284, GO:0006508, GO:0002244, GO:0001954, GO:0001657, GO:0001649, positive regulation of fibroblast apoptotic process, negative regulation of fibroblast apoptotic process, negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation, negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification, positive regulation of non-canonical Wnt signaling pathway, negative regulation of planar cell polarity pathway involved in axis elongation, regulation of midbrain dopaminergic neuron differentiation, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, convergent extension involved in somitogenesis, Wnt signaling pathway involved in somitogenesis, planar cell polarity pathway involved in neural tube closure, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, cellular response to BMP stimulus, cellular response to transforming growth factor beta stimulus, dopaminergic neuron differentiation, cellular response to heparin, cellular response to X-ray, cellular response to hypoxia, cellular response to estradiol stimulus, cellular response to estrogen stimulus, cellular response to prostaglandin E stimulus, cellular response to growth factor stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to vitamin D, negative regulation of androgen receptor signaling pathway, regulation of branching involved in prostate gland morphogenesis, prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis, bone trabecula formation, hematopoietic stem cell differentiation, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of focal adhesion assembly, positive regulation of stress fiber assembly, negative regulation of peptidyl-tyrosine phosphorylation, negative regulation of epithelial cell proliferation, positive regulation of epithelial cell proliferation, digestive tract morphogenesis, negative regulation of fibroblast proliferation, negative regulation of bone remodeling, negative regulation of insulin secretion, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of smoothened signaling pathway, regulation of angiogenesis, negative regulation of osteoclast differentiation, negative regulation of osteoblast differentiation, positive regulation of fat cell differentiation, negative regulation of B cell differentiation, stromal-epithelial cell signaling involved in prostate gland development, cellular response to fibroblast growth factor stimulus, positive regulation of GTPase activity, negative regulation of JUN kinase activity, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, response to drug, non-canonical Wnt signaling pathway, somatic stem cell population maintenance, negative regulation of osteoblast proliferation, negative regulation of BMP signaling pathway, negative regulation of cell migration, negative regulation of cell growth, positive regulation of cell growth, negative regulation of ossification, negative regulation of ossification, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, response to organic cyclic compound, neural crest cell fate commitment, regulation of neuron projection development, negative regulation of epithelial to mesenchymal transition, negative regulation of gene expression, regulation of cell cycle process, dorsal/ventral axis specification, cellular response to starvation, female gonad development, male gonad development, negative regulation of cell population proliferation, positive regulation of cell population proliferation, proteolysis, hematopoietic progenitor cell differentiation, positive regulation of cell-matrix adhesion, ureteric bud development, osteoblast differentiation, 0 0 4 0 0 6 0 2 0 ENSG00000104341 chr8 97775057 97853013 + LAPTM4B protein_coding 55353 GO:0097487, GO:0042995, GO:0032585, GO:0031902, GO:0016021, GO:0005886, GO:0005769, GO:0005768, GO:0005765, GO:0005765, GO:0005764, multivesicular body, internal vesicle, cell projection, multivesicular body membrane, late endosome membrane, integral component of membrane, plasma membrane, early endosome, endosome, lysosomal membrane, lysosomal membrane, lysosome, GO:1902936, GO:0097001, GO:0031625, GO:0019900, GO:0005515, phosphatidylinositol bisphosphate binding, ceramide binding, ubiquitin protein ligase binding, kinase binding, protein binding, GO:1905671, GO:1905166, GO:0097213, GO:0032911, GO:0032509, GO:0007032, regulation of lysosome organization, negative regulation of lysosomal protein catabolic process, regulation of lysosomal membrane permeability, negative regulation of transforming growth factor beta1 production, endosome transport via multivesicular body sorting pathway, endosome organization, 5 8 11 23 2 0 9 3 5 ENSG00000104343 chr8 73780097 73878910 - UBE2W protein_coding This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 55284 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0061631, GO:0031625, GO:0005524, GO:0005515, GO:0004842, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0071218, GO:0070979, GO:0043161, GO:0043161, GO:0016567, GO:0006515, GO:0006513, GO:0006513, GO:0006281, GO:0000209, cellular response to misfolded protein, protein K11-linked ubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, protein quality control for misfolded or incompletely synthesized proteins, protein monoubiquitination, protein monoubiquitination, DNA repair, protein polyubiquitination, 630 751 748 331 802 571 485 675 504 ENSG00000104356 chr8 98117297 98159834 + POP1 protein_coding This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. 10940 GO:0030681, GO:0005730, GO:0005655, GO:0005655, GO:0005654, GO:0005615, GO:0000172, GO:0000172, multimeric ribonuclease P complex, nucleolus, nucleolar ribonuclease P complex, nucleolar ribonuclease P complex, nucleoplasm, extracellular space, ribonuclease MRP complex, ribonuclease MRP complex, GO:0033204, GO:0005515, GO:0004526, GO:0003723, ribonuclease P RNA binding, protein binding, ribonuclease P activity, RNA binding, GO:0090502, GO:0016078, GO:0008033, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, tRNA catabolic process, tRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, 5 3 8 12 1 22 8 5 10 ENSG00000104361 chr8 98189833 98294393 - NIPAL2 protein_coding 79815 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0015095, magnesium ion transmembrane transporter activity, GO:1903830, GO:0015693, magnesium ion transmembrane transport, magnesium ion transport, 8 20 32 23 18 34 16 11 22 ENSG00000104365 chr8 42271302 42332653 + IKBKB protein_coding The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]. 3551 GO:0045121, GO:0035631, GO:0009898, GO:0008385, GO:0008385, GO:0005829, GO:0005829, GO:0005737, GO:0005634, membrane raft, CD40 receptor complex, cytoplasmic side of plasma membrane, IkappaB kinase complex, IkappaB kinase complex, cytosol, cytosol, cytoplasm, nucleus, GO:1990459, GO:0106311, GO:0106310, GO:0097110, GO:0046982, GO:0042803, GO:0042802, GO:0019901, GO:0008384, GO:0008384, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, transferrin receptor binding, protein threonine kinase activity, protein serine kinase activity, scaffold protein binding, protein heterodimerization activity, protein homodimerization activity, identical protein binding, protein kinase binding, IkappaB kinase activity, IkappaB kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1903347, GO:1903140, GO:0072659, GO:0071356, GO:0070498, GO:0070498, GO:0051403, GO:0051092, GO:0051092, GO:0051092, GO:0050852, GO:0045944, GO:0045944, GO:0045893, GO:0045087, GO:0043123, GO:0043123, GO:0043066, GO:0042325, GO:0038095, GO:0035666, GO:0035509, GO:0033209, GO:0033209, GO:0030866, GO:0018105, GO:0018105, GO:0016032, GO:0010803, GO:0009615, GO:0007252, GO:0007249, GO:0007249, GO:0006954, GO:0006468, GO:0006468, GO:0002756, GO:0002479, GO:0002223, negative regulation of bicellular tight junction assembly, regulation of establishment of endothelial barrier, protein localization to plasma membrane, cellular response to tumor necrosis factor, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, stress-activated MAPK cascade, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, regulation of phosphorylation, Fc-epsilon receptor signaling pathway, TRIF-dependent toll-like receptor signaling pathway, negative regulation of myosin-light-chain-phosphatase activity, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, cortical actin cytoskeleton organization, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, viral process, regulation of tumor necrosis factor-mediated signaling pathway, response to virus, I-kappaB phosphorylation, I-kappaB kinase/NF-kappaB signaling, I-kappaB kinase/NF-kappaB signaling, inflammatory response, protein phosphorylation, protein phosphorylation, MyD88-independent toll-like receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, 898 918 977 910 994 885 855 690 742 ENSG00000104368 chr8 42175233 42207724 - PLAT protein_coding This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 5327 GO:0098978, GO:0098685, GO:0070062, GO:0062023, GO:0045177, GO:0030141, GO:0009986, GO:0005737, GO:0005615, GO:0005576, glutamatergic synapse, Schaffer collateral - CA1 synapse, extracellular exosome, collagen-containing extracellular matrix, apical part of cell, secretory granule, cell surface, cytoplasm, extracellular space, extracellular region, GO:0051219, GO:0005515, GO:0005515, GO:0005102, GO:0004252, GO:0004252, GO:0004252, phosphoprotein binding, protein binding, protein binding, signaling receptor binding, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0099183, GO:0048008, GO:0045861, GO:0042730, GO:0031639, GO:0031639, GO:0014909, GO:0007596, GO:0006508, GO:0006464, GO:0001666, trans-synaptic signaling by BDNF, modulating synaptic transmission, platelet-derived growth factor receptor signaling pathway, negative regulation of proteolysis, fibrinolysis, plasminogen activation, plasminogen activation, smooth muscle cell migration, blood coagulation, proteolysis, cellular protein modification process, response to hypoxia, 0 1 0 1 0 0 2 3 7 ENSG00000104369 chr8 74234700 74321328 - JPH1 protein_coding Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]. 56704 GO:0030314, GO:0030314, GO:0030018, GO:0016529, GO:0016021, GO:0014701, GO:0005886, GO:0005789, GO:0005654, junctional membrane complex, junctional membrane complex, Z disc, sarcoplasmic reticulum, integral component of membrane, junctional sarcoplasmic reticulum membrane, plasma membrane, endoplasmic reticulum membrane, nucleoplasm, GO:0008307, GO:0005515, GO:0003674, structural constituent of muscle, protein binding, molecular_function, GO:0060402, GO:0060314, GO:0007517, calcium ion transport into cytosol, regulation of ryanodine-sensitive calcium-release channel activity, muscle organ development, 0 0 0 0 0 0 1 0 0 ENSG00000104371 chr8 42374068 42377232 - DKK4 protein_coding This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008]. 27121 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0048019, GO:0039706, GO:0005515, GO:0003674, receptor antagonist activity, co-receptor binding, protein binding, molecular_function, GO:2000272, GO:0090090, GO:0090090, GO:0061170, GO:0030178, GO:0016055, GO:0007275, negative regulation of signaling receptor activity, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of hair follicle placode formation, negative regulation of Wnt signaling pathway, Wnt signaling pathway, multicellular organism development, 0 0 1 0 0 0 0 1 0 ENSG00000104375 chr8 98371228 98942827 - STK3 protein_coding This gene encodes a serine/threonine protein kinase activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 6788 GO:0032991, GO:0005829, GO:0005737, GO:0005737, GO:0005634, protein-containing complex, cytosol, cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0043539, GO:0042802, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein serine/threonine kinase activator activity, identical protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:1902043, GO:0097284, GO:0090090, GO:0071902, GO:0060800, GO:0060706, GO:0060215, GO:0051897, GO:0051091, GO:0050821, GO:0046621, GO:0046330, GO:0045600, GO:0043065, GO:0035556, GO:0035329, GO:0035329, GO:0032147, GO:0032092, GO:0031098, GO:0023014, GO:0008285, GO:0007417, GO:0007165, GO:0006915, GO:0006468, GO:0003157, GO:0001841, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, hepatocyte apoptotic process, negative regulation of canonical Wnt signaling pathway, positive regulation of protein serine/threonine kinase activity, regulation of cell differentiation involved in embryonic placenta development, cell differentiation involved in embryonic placenta development, primitive hemopoiesis, positive regulation of protein kinase B signaling, positive regulation of DNA-binding transcription factor activity, protein stabilization, negative regulation of organ growth, positive regulation of JNK cascade, positive regulation of fat cell differentiation, positive regulation of apoptotic process, intracellular signal transduction, hippo signaling, hippo signaling, activation of protein kinase activity, positive regulation of protein binding, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, negative regulation of cell population proliferation, central nervous system development, signal transduction, apoptotic process, protein phosphorylation, endocardium development, neural tube formation, 168 200 185 95 210 156 140 157 163 ENSG00000104381 chr8 74321130 74488872 + GDAP1 protein_coding This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]. 54332 GO:0031307, GO:0031307, GO:0016020, GO:0005829, GO:0005739, GO:0005634, integral component of mitochondrial outer membrane, integral component of mitochondrial outer membrane, membrane, cytosol, mitochondrion, nucleus, GO:0005515, protein binding, GO:0071305, GO:0032526, GO:0008053, GO:0008053, GO:0006626, GO:0006626, GO:0000266, GO:0000266, cellular response to vitamin D, response to retinoic acid, mitochondrial fusion, mitochondrial fusion, protein targeting to mitochondrion, protein targeting to mitochondrion, mitochondrial fission, mitochondrial fission, 9 4 5 5 5 7 13 3 7 ENSG00000104388 chr8 60516857 60623627 + RAB2A protein_coding The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 5862 GO:0070062, GO:0042470, GO:0033116, GO:0005829, GO:0005794, GO:0005789, GO:0005765, GO:0005634, GO:0000139, GO:0000139, extracellular exosome, melanosome, endoplasmic reticulum-Golgi intermediate compartment membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, lysosomal membrane, nucleus, Golgi membrane, Golgi membrane, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GO:0043687, GO:0015031, GO:0007030, GO:0006888, post-translational protein modification, protein transport, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, 1285 1115 1640 515 927 757 635 837 697 ENSG00000104408 chr8 108201216 108435333 - EIF3E protein_coding 3646 GO:0071540, GO:0070062, GO:0033290, GO:0016605, GO:0016282, GO:0016020, GO:0005852, GO:0005852, GO:0005852, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, eukaryotic translation initiation factor 3 complex, eIF3e, extracellular exosome, eukaryotic 48S preinitiation complex, PML body, eukaryotic 43S preinitiation complex, membrane, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0047485, GO:0045296, GO:0005515, GO:0003743, GO:0003743, GO:0003743, GO:0003723, protein N-terminus binding, cadherin binding, protein binding, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, RNA binding, GO:1902416, GO:0045947, GO:0045727, GO:0006446, GO:0006413, GO:0006413, GO:0006413, GO:0006413, GO:0001732, GO:0000184, positive regulation of mRNA binding, negative regulation of translational initiation, positive regulation of translation, regulation of translational initiation, translational initiation, translational initiation, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 248 148 428 952 385 845 580 311 470 ENSG00000104412 chr8 108443601 108486918 + EMC2 protein_coding 9694 GO:0072546, GO:0072546, GO:0005783, GO:0005737, GO:0005634, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, endoplasmic reticulum, cytoplasm, nucleus, GO:0005515, protein binding, 242 185 271 126 134 139 140 128 130 ENSG00000104413 chr8 94641074 94707466 + ESRP1 protein_coding ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]. 54845 GO:1990904, GO:0016604, GO:0005654, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, nuclear body, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003729, GO:0003729, GO:0003723, protein binding, mRNA binding, mRNA binding, RNA binding, GO:0043484, GO:0043484, GO:0042669, GO:0008543, GO:0008380, GO:0006397, regulation of RNA splicing, regulation of RNA splicing, regulation of inner ear auditory receptor cell fate specification, fibroblast growth factor receptor signaling pathway, RNA splicing, mRNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000104415 chr8 133191039 133231690 + WISP1 protein_coding This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]. 8840 GO:0031012, GO:0005829, GO:0005615, GO:0005615, extracellular matrix, cytosol, extracellular space, extracellular space, GO:0008201, GO:0005520, GO:0005515, GO:0005178, heparin binding, insulin-like growth factor binding, protein binding, integrin binding, GO:0090303, GO:0060548, GO:0060348, GO:0050729, GO:0048661, GO:0045669, GO:0045599, GO:0042593, GO:0032331, GO:0030316, GO:0030177, GO:0016055, GO:0014911, GO:0007267, GO:0007165, GO:0007155, GO:0001817, GO:0001649, positive regulation of wound healing, negative regulation of cell death, bone development, positive regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, glucose homeostasis, negative regulation of chondrocyte differentiation, osteoclast differentiation, positive regulation of Wnt signaling pathway, Wnt signaling pathway, positive regulation of smooth muscle cell migration, cell-cell signaling, signal transduction, cell adhesion, regulation of cytokine production, osteoblast differentiation, 0 0 0 0 0 1 0 0 0 ENSG00000104419 chr8 133237171 133302022 - NDRG1 protein_coding This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 10397 GO:0098978, GO:0070062, GO:0055038, GO:0048471, GO:0015630, GO:0005912, GO:0005886, GO:0005874, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005634, glutamatergic synapse, extracellular exosome, recycling endosome membrane, perinuclear region of cytoplasm, microtubule cytoskeleton, adherens junction, plasma membrane, microtubule, cytosol, cytosol, centrosome, cytoplasm, cytoplasm, nucleus, GO:0045296, GO:0045296, GO:0043015, GO:0031267, GO:0008017, GO:0005515, cadherin binding, cadherin binding, gamma-tubulin binding, small GTPase binding, microtubule binding, protein binding, GO:0099173, GO:0071456, GO:0045576, GO:0042981, GO:0032287, GO:0030330, GO:0010038, GO:0008285, GO:0007165, postsynapse organization, cellular response to hypoxia, mast cell activation, regulation of apoptotic process, peripheral nervous system myelin maintenance, DNA damage response, signal transduction by p53 class mediator, response to metal ion, negative regulation of cell population proliferation, signal transduction, 1217 1616 1727 993 1586 1636 1178 1257 1172 ENSG00000104427 chr8 78666047 78719765 + ZC2HC1A protein_coding 51101 GO:0046872, GO:0005515, metal ion binding, protein binding, 3 0 2 22 5 0 23 7 10 ENSG00000104432 chr8 78675743 78805523 - IL7 protein_coding The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. IL7 is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. IL7 plays an essential role in lymphoid cell survival, and in the maintenance of naive and memory T cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can be a potent inducer of proinflammatory cytokines and chemokines which may defend against the infection, but may also mediate destructive lung injury. Elevated serum IL7 levels, together with several other circulating cytokines and chemokines, has been found to be associated with the severity of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Jul 2020]. 3574 GO:0062023, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, extracellular space, extracellular region, extracellular region, GO:0008083, GO:0005515, GO:0005139, GO:0005125, growth factor activity, protein binding, interleukin-7 receptor binding, cytokine activity, GO:2001240, GO:0050730, GO:0048873, GO:0046622, GO:0045582, GO:0045579, GO:0045453, GO:0043086, GO:0043066, GO:0038111, GO:0032722, GO:0030890, GO:0019221, GO:0009887, GO:0008284, GO:0007267, GO:0006959, GO:0002360, GO:0001961, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, regulation of peptidyl-tyrosine phosphorylation, homeostasis of number of cells within a tissue, positive regulation of organ growth, positive regulation of T cell differentiation, positive regulation of B cell differentiation, bone resorption, negative regulation of catalytic activity, negative regulation of apoptotic process, interleukin-7-mediated signaling pathway, positive regulation of chemokine production, positive regulation of B cell proliferation, cytokine-mediated signaling pathway, animal organ morphogenesis, positive regulation of cell population proliferation, cell-cell signaling, humoral immune response, T cell lineage commitment, positive regulation of cytokine-mediated signaling pathway, 1 0 0 8 3 4 6 0 9 ENSG00000104435 chr8 79610814 79666175 + STMN2 protein_coding This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]. 11075 GO:0048471, GO:0043025, GO:0043005, GO:0043005, GO:0030426, GO:0030426, GO:0030027, GO:0016020, GO:0005794, GO:0005768, GO:0005737, GO:0005737, perinuclear region of cytoplasm, neuronal cell body, neuron projection, neuron projection, growth cone, growth cone, lamellipodium, membrane, Golgi apparatus, endosome, cytoplasm, cytoplasm, GO:0048306, GO:0015631, GO:0005515, calcium-dependent protein binding, tubulin binding, protein binding, GO:1990090, GO:0031175, GO:0031117, GO:0031115, GO:0031110, GO:0010977, GO:0010976, GO:0007026, GO:0007019, cellular response to nerve growth factor stimulus, neuron projection development, positive regulation of microtubule depolymerization, negative regulation of microtubule polymerization, regulation of microtubule polymerization or depolymerization, negative regulation of neuron projection development, positive regulation of neuron projection development, negative regulation of microtubule depolymerization, microtubule depolymerization, 0 0 0 0 0 0 0 0 0 ENSG00000104442 chr8 65602456 65634217 - ARMC1 protein_coding 55156 GO:0005829, GO:0005739, cytosol, mitochondrion, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0048312, GO:0030001, intracellular distribution of mitochondria, metal ion transport, 24 22 35 63 27 65 41 33 45 ENSG00000104447 chr8 115408496 115809673 - TRPS1 protein_coding This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]. 7227 GO:0032991, GO:0005654, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, nucleoplasm, nucleus, chromatin, chromatin, GO:0019904, GO:0008270, GO:0005515, GO:0003700, GO:0001227, GO:0000977, GO:0000977, protein domain specific binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0032330, GO:0006357, GO:0001501, GO:0000122, regulation of chondrocyte differentiation, regulation of transcription by RNA polymerase II, skeletal system development, negative regulation of transcription by RNA polymerase II, 41 23 53 62 31 77 54 24 77 ENSG00000104450 chr8 100157906 100259278 + SPAG1 protein_coding The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]. 6674 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0016787, GO:0005525, hydrolase activity, GTP binding, GO:0070286, GO:0070286, GO:0007338, axonemal dynein complex assembly, axonemal dynein complex assembly, single fertilization, 255 273 284 178 298 224 236 204 187 ENSG00000104472 chr8 140511298 140517137 + CHRAC1 protein_coding CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]. 54108 GO:0008623, GO:0008623, GO:0008622, GO:0005634, CHRAC, CHRAC, epsilon DNA polymerase complex, nucleus, GO:0046982, GO:0005515, GO:0003887, GO:0003677, protein heterodimerization activity, protein binding, DNA-directed DNA polymerase activity, DNA binding, GO:0071897, GO:0006338, DNA biosynthetic process, chromatin remodeling, 371 425 332 151 257 193 162 202 159 ENSG00000104490 chr8 101686543 102124907 - NCALD protein_coding This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 83988 GO:0030130, GO:0005829, GO:0005829, clathrin coat of trans-Golgi network vesicle, cytosol, cytosol, GO:0043014, GO:0030276, GO:0015631, GO:0005515, GO:0005509, GO:0003779, alpha-tubulin binding, clathrin binding, tubulin binding, protein binding, calcium ion binding, actin binding, GO:0019722, GO:0016192, GO:0003073, calcium-mediated signaling, vesicle-mediated transport, regulation of systemic arterial blood pressure, 15 13 26 39 26 62 37 12 45 ENSG00000104497 chr8 81799581 81842866 - SNX16 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis. [provided by RefSeq, Jan 2017]. 64089 GO:0043231, GO:0031902, GO:0031901, GO:0031313, GO:0031313, GO:0005829, GO:0005770, GO:0005770, GO:0005769, GO:0005769, GO:0005764, intracellular membrane-bounded organelle, late endosome membrane, early endosome membrane, extrinsic component of endosome membrane, extrinsic component of endosome membrane, cytosol, late endosome, late endosome, early endosome, early endosome, lysosome, GO:0042802, GO:0035091, GO:0035091, identical protein binding, phosphatidylinositol binding, phosphatidylinositol binding, GO:0045022, GO:0045022, GO:0008333, GO:0008333, GO:0006622, GO:0006622, early endosome to late endosome transport, early endosome to late endosome transport, endosome to lysosome transport, endosome to lysosome transport, protein targeting to lysosome, protein targeting to lysosome, 101 79 62 133 92 42 89 82 69 ENSG00000104499 chr8 142834247 142916506 + GML protein_coding 2765 GO:0031225, GO:0019898, GO:0005886, anchored component of membrane, extrinsic component of membrane, plasma membrane, GO:0008285, GO:0006977, GO:0006915, negative regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000104517 chr8 102253012 102412841 - UBR5 protein_coding This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]. 51366 GO:0048471, GO:0032991, GO:0016020, GO:0005829, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, protein-containing complex, membrane, cytosol, nucleoplasm, nucleus, nucleus, GO:0061630, GO:0043130, GO:0034450, GO:0008270, GO:0005515, GO:0003723, ubiquitin protein ligase activity, ubiquitin binding, ubiquitin-ubiquitin ligase activity, zinc ion binding, protein binding, RNA binding, GO:2000780, GO:2000779, GO:1901315, GO:1901315, GO:0090263, GO:0070936, GO:0050847, GO:0042307, GO:0016032, GO:0010628, GO:0006974, GO:0006974, GO:0006974, GO:0006281, GO:0000209, GO:0000209, negative regulation of double-strand break repair, regulation of double-strand break repair, negative regulation of histone H2A K63-linked ubiquitination, negative regulation of histone H2A K63-linked ubiquitination, positive regulation of canonical Wnt signaling pathway, protein K48-linked ubiquitination, progesterone receptor signaling pathway, positive regulation of protein import into nucleus, viral process, positive regulation of gene expression, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, DNA repair, protein polyubiquitination, protein polyubiquitination, 2332 2365 3075 1365 1635 1923 1662 1188 1488 ENSG00000104518 chr8 143553207 143563062 + GSDMD protein_coding Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]. 79792 GO:1904813, GO:1904724, GO:0072559, GO:0072559, GO:0035580, GO:0005886, GO:0005829, GO:0005654, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, NLRP3 inflammasome complex, NLRP3 inflammasome complex, specific granule lumen, plasma membrane, cytosol, nucleoplasm, extracellular space, extracellular region, GO:1901612, GO:0070300, GO:0070273, GO:0070273, GO:0005546, GO:0005546, GO:0005515, GO:0001786, GO:0001786, cardiolipin binding, phosphatidic acid binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, phosphatidylserine binding, phosphatidylserine binding, GO:0070269, GO:0070269, GO:0051260, GO:0050830, GO:0050829, GO:0046931, GO:0045087, GO:0043312, GO:0042742, GO:0035915, GO:0032731, GO:0031668, GO:0006954, pyroptosis, pyroptosis, protein homooligomerization, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, pore complex assembly, innate immune response, neutrophil degranulation, defense response to bacterium, pore formation in membrane of other organism, positive regulation of interleukin-1 beta production, cellular response to extracellular stimulus, inflammatory response, 111 62 7 12 182 5 8 10 5 ENSG00000104522 chr8 143612618 143618048 - TSTA3 protein_coding Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]. 7264 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0050577, GO:0050577, GO:0047918, GO:0042802, GO:0042356, GO:0009055, GO:0005515, GDP-L-fucose synthase activity, GDP-L-fucose synthase activity, GDP-mannose 3,5-epimerase activity, identical protein binding, GDP-4-dehydro-D-rhamnose reductase activity, electron transfer activity, protein binding, GO:1904906, GO:0042351, GO:0042351, GO:0042351, GO:0022900, GO:0019673, GO:0010595, GO:0007159, GO:0001913, positive regulation of endothelial cell-matrix adhesion via fibronectin, 'de novo' GDP-L-fucose biosynthetic process, 'de novo' GDP-L-fucose biosynthetic process, 'de novo' GDP-L-fucose biosynthetic process, electron transport chain, GDP-mannose metabolic process, positive regulation of endothelial cell migration, leukocyte cell-cell adhesion, T cell mediated cytotoxicity, 1 0 2 6 0 0 60 0 1 ENSG00000104524 chr8 143603913 143609773 - PYCR3 protein_coding This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]. 65263 GO:0005829, GO:0005829, cytosol, cytosol, GO:0005515, GO:0004735, GO:0004735, protein binding, pyrroline-5-carboxylate reductase activity, pyrroline-5-carboxylate reductase activity, GO:0055129, GO:0055129, GO:0055129, GO:0055114, GO:0008652, L-proline biosynthetic process, L-proline biosynthetic process, L-proline biosynthetic process, oxidation-reduction process, cellular amino acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000104529 chr8 143579697 143599541 - EEF1D protein_coding This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]. 1936 GO:0005853, GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005654, GO:0005634, GO:0001650, eukaryotic translation elongation factor 1 complex, cytosol, cytosol, cytosol, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, fibrillar center, GO:0045296, GO:0008135, GO:0005515, GO:0005085, GO:0003746, GO:0003677, cadherin binding, translation factor activity, RNA binding, protein binding, guanyl-nucleotide exchange factor activity, translation elongation factor activity, DNA binding, GO:0071479, GO:0043123, GO:0006414, GO:0006414, cellular response to ionizing radiation, positive regulation of I-kappaB kinase/NF-kappaB signaling, translational elongation, translational elongation, 229 81 668 67 343 56 74 372 391 ENSG00000104537 chr8 123680794 123737407 - ANXA13 protein_coding This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 312 GO:0070062, GO:0031410, GO:0019898, GO:0016324, GO:0005886, GO:0005886, GO:0005737, GO:0005654, GO:0005615, extracellular exosome, cytoplasmic vesicle, extrinsic component of membrane, apical plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleoplasm, extracellular space, GO:1901611, GO:0005544, GO:0005509, GO:0005509, GO:0001786, phosphatidylglycerol binding, calcium-dependent phospholipid binding, calcium ion binding, calcium ion binding, phosphatidylserine binding, GO:0030154, cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000104549 chr8 124998497 125022283 + SQLE protein_coding Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008]. 6713 GO:0043231, GO:0016021, GO:0005789, GO:0005783, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0071949, GO:0005515, GO:0004506, GO:0004506, GO:0004506, FAD binding, protein binding, squalene monooxygenase activity, squalene monooxygenase activity, squalene monooxygenase activity, GO:0140042, GO:0055114, GO:0045540, GO:0042127, GO:0016126, GO:0016126, GO:0016126, GO:0010033, GO:0008203, GO:0006725, GO:0006695, lipid droplet formation, oxidation-reduction process, regulation of cholesterol biosynthetic process, regulation of cell population proliferation, sterol biosynthetic process, sterol biosynthetic process, sterol biosynthetic process, response to organic substance, cholesterol metabolic process, cellular aromatic compound metabolic process, cholesterol biosynthetic process, 12 14 46 26 21 64 18 19 37 ENSG00000104611 chr8 19313617 19396218 + SH2D4A protein_coding 63898 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0019902, GO:0019902, GO:0005515, phosphatase binding, phosphatase binding, protein binding, GO:0010923, GO:0010923, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 2 2 2 3 2 0 0 2 0 ENSG00000104613 chr8 19817140 19852083 + INTS10 protein_coding INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]. 55174 GO:0032039, GO:0005654, GO:0005634, integrator complex, nucleoplasm, nucleus, GO:0005515, GO:0005515, protein binding, protein binding, GO:0042795, GO:0016180, snRNA transcription by RNA polymerase II, snRNA processing, 178 170 173 198 213 155 192 192 176 ENSG00000104626 chr8 9002147 9116746 + ERI1 protein_coding 90459 GO:0071204, GO:0005737, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005634, histone pre-mRNA 3'end processing complex, cytoplasm, cytoplasm, cytoplasm, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0071207, GO:0046872, GO:0043022, GO:0019843, GO:0008408, GO:0005515, GO:0000175, GO:0000175, histone pre-mRNA stem-loop binding, metal ion binding, ribosome binding, rRNA binding, 3'-5' exonuclease activity, protein binding, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:0071044, GO:0031125, GO:0031047, GO:0006364, GO:0000738, GO:0000467, histone mRNA catabolic process, rRNA 3'-end processing, gene silencing by RNA, rRNA processing, DNA catabolic process, exonucleolytic, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 381 354 466 161 217 175 187 155 175 ENSG00000104635 chr8 22367249 22434129 + SLC39A14 protein_coding This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]. 23516 GO:0031902, GO:0031901, GO:0016324, GO:0016323, GO:0016021, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005765, late endosome membrane, early endosome membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, GO:0015296, GO:0015093, GO:0015086, GO:0005385, GO:0005385, GO:0005384, GO:0005381, anion:cation symporter activity, ferrous iron transmembrane transporter activity, cadmium ion transmembrane transporter activity, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, manganese ion transmembrane transporter activity, iron ion transmembrane transporter activity, GO:0098739, GO:0071578, GO:0071578, GO:0071577, GO:0071577, GO:0071421, GO:0071333, GO:0070574, GO:0055071, GO:0051344, GO:0045745, GO:0034755, GO:0033212, GO:0032869, GO:0015698, GO:0010817, GO:0008286, GO:0006882, GO:0006882, GO:0006094, GO:0002062, import across plasma membrane, zinc ion import across plasma membrane, zinc ion import across plasma membrane, zinc ion transmembrane transport, zinc ion transmembrane transport, manganese ion transmembrane transport, cellular response to glucose stimulus, cadmium ion transmembrane transport, manganese ion homeostasis, negative regulation of cyclic-nucleotide phosphodiesterase activity, positive regulation of G protein-coupled receptor signaling pathway, iron ion transmembrane transport, iron import into cell, cellular response to insulin stimulus, inorganic anion transport, regulation of hormone levels, insulin receptor signaling pathway, cellular zinc ion homeostasis, cellular zinc ion homeostasis, gluconeogenesis, chondrocyte differentiation, 1 1 22 17 1 22 17 5 7 ENSG00000104643 chr8 11284416 11328146 + MTMR9 protein_coding This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]. 66036 GO:0048471, GO:0032991, GO:0032587, GO:0016020, GO:0005829, GO:0005783, GO:0005737, GO:0005737, perinuclear region of cytoplasm, protein-containing complex, ruffle membrane, membrane, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, GO:0019903, GO:0005515, GO:0004438, protein phosphatase binding, protein binding, phosphatidylinositol-3-phosphatase activity, GO:0060304, GO:0050821, GO:0046856, GO:0010922, GO:0010507, GO:0010507, GO:0006897, GO:0006661, regulation of phosphatidylinositol dephosphorylation, protein stabilization, phosphatidylinositol dephosphorylation, positive regulation of phosphatase activity, negative regulation of autophagy, negative regulation of autophagy, endocytosis, phosphatidylinositol biosynthetic process, 118 114 128 108 176 118 116 93 89 ENSG00000104660 chr8 30095398 30177208 + LEPROTL1 protein_coding 23484 GO:0016021, GO:0005768, integral component of membrane, endosome, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:2000009, GO:0032511, negative regulation of protein localization to cell surface, late endosome to vacuole transport via multivesicular body sorting pathway, 581 491 699 307 339 329 336 381 387 ENSG00000104671 chr8 30156297 30183640 + DCTN6 protein_coding The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008]. 10671 GO:0005869, GO:0005829, GO:0005813, GO:0000777, dynactin complex, cytosol, centrosome, condensed chromosome kinetochore, GO:0070840, dynein complex binding, GO:0019886, GO:0007052, GO:0006888, antigen processing and presentation of exogenous peptide antigen via MHC class II, mitotic spindle organization, endoplasmic reticulum to Golgi vesicle-mediated transport, 50 39 50 30 49 36 34 29 16 ENSG00000104679 chr8 23270120 23296279 + R3HCC1 protein_coding 203069 GO:0035145, exon-exon junction complex, GO:0003676, nucleic acid binding, 44 65 54 49 65 69 48 55 54 ENSG00000104687 chr8 30678061 30727999 - GSR protein_coding This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]. 2936 GO:0070062, GO:0009897, GO:0005829, GO:0005829, GO:0005759, GO:0005739, extracellular exosome, external side of plasma membrane, cytosol, cytosol, mitochondrial matrix, mitochondrion, GO:0050661, GO:0050660, GO:0009055, GO:0004362, NADP binding, flavin adenine dinucleotide binding, electron transfer activity, glutathione-disulfide reductase activity, GO:0098869, GO:0045454, GO:0034599, GO:0034599, GO:0022900, GO:0015949, GO:0006749, cellular oxidant detoxification, cell redox homeostasis, cellular response to oxidative stress, cellular response to oxidative stress, electron transport chain, nucleobase-containing small molecule interconversion, glutathione metabolic process, 311 302 358 230 251 271 241 216 227 ENSG00000104689 chr8 23190452 23225126 - TNFRSF10A protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]. 8797 GO:0045121, GO:0016021, GO:0009986, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005794, membrane raft, integral component of membrane, cell surface, cell surface, plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, GO:0045569, GO:0042802, GO:0038023, GO:0008134, GO:0005515, GO:0005035, GO:0002020, TRAIL binding, identical protein binding, signaling receptor activity, transcription factor binding, protein binding, death receptor activity, protease binding, GO:1902042, GO:1902041, GO:0097191, GO:0071260, GO:0050900, GO:0043065, GO:0042981, GO:0036462, GO:0036462, GO:0036462, GO:0008625, GO:0007250, GO:0007166, GO:0007165, GO:0006919, GO:0006915, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, extrinsic apoptotic signaling pathway, cellular response to mechanical stimulus, leukocyte migration, positive regulation of apoptotic process, regulation of apoptotic process, TRAIL-activated apoptotic signaling pathway, TRAIL-activated apoptotic signaling pathway, TRAIL-activated apoptotic signaling pathway, extrinsic apoptotic signaling pathway via death domain receptors, activation of NF-kappaB-inducing kinase activity, cell surface receptor signaling pathway, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 57 38 73 63 32 65 66 33 73 ENSG00000104691 chr8 30732247 30767006 + UBXN8 protein_coding p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013]. 7993 GO:0030176, GO:0005783, GO:0005730, GO:0005654, GO:0000151, integral component of endoplasmic reticulum membrane, endoplasmic reticulum, nucleolus, nucleoplasm, ubiquitin ligase complex, GO:0030674, GO:0005515, protein-macromolecule adaptor activity, protein binding, GO:0030433, GO:0007338, ubiquitin-dependent ERAD pathway, single fertilization, 6 7 8 5 6 20 2 4 3 ENSG00000104695 chr8 30774457 30814314 - PPP2CB protein_coding This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]. 5516 GO:0005829, GO:0005634, GO:0000922, GO:0000775, GO:0000159, cytosol, nucleus, spindle pole, chromosome, centromeric region, protein phosphatase type 2A complex, GO:0106307, GO:0106306, GO:0048156, GO:0046872, GO:0008022, GO:0005515, GO:0004722, GO:0004722, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, tau protein binding, metal ion binding, protein C-terminus binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:1904528, GO:0070262, GO:0046677, GO:0046580, GO:0043161, GO:0042542, GO:0035970, GO:0034976, GO:0010468, GO:0010288, GO:0008637, GO:0006470, positive regulation of microtubule binding, peptidyl-serine dephosphorylation, response to antibiotic, negative regulation of Ras protein signal transduction, proteasome-mediated ubiquitin-dependent protein catabolic process, response to hydrogen peroxide, peptidyl-threonine dephosphorylation, response to endoplasmic reticulum stress, regulation of gene expression, response to lead ion, apoptotic mitochondrial changes, protein dephosphorylation, 98 97 102 84 88 45 59 94 61 ENSG00000104714 chr8 614746 738106 - ERICH1 protein_coding 157697 GO:0005515, protein binding, 395 270 495 362 377 582 445 322 527 ENSG00000104722 chr8 24913012 24919098 + NEFM protein_coding Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. 4741 GO:0097418, GO:0045111, GO:0030424, GO:0005883, neurofibrillary tangle, intermediate filament cytoskeleton, axon, neurofilament, GO:0008017, GO:0005515, GO:0005200, microtubule binding, protein binding, structural constituent of cytoskeleton, GO:0033693, neurofilament bundle assembly, 2 0 1 0 0 1 1 0 3 ENSG00000104723 chr8 15417215 15766649 + TUSC3 protein_coding This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]. 7991 GO:0008250, GO:0008250, GO:0005887, GO:0005886, GO:0005789, GO:0005739, oligosaccharyltransferase complex, oligosaccharyltransferase complex, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, mitochondrion, GO:0015095, GO:0015095, magnesium ion transmembrane transporter activity, magnesium ion transmembrane transporter activity, GO:1903830, GO:0055085, GO:0050890, GO:0018279, GO:0018279, GO:0018279, GO:0018279, GO:0015693, GO:0006487, magnesium ion transmembrane transport, transmembrane transport, cognition, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, magnesium ion transport, protein N-linked glycosylation, 0 0 0 0 0 0 2 0 0 ENSG00000104728 chr8 1823976 1958641 + ARHGEF10 protein_coding This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 9639 GO:0005829, GO:0005813, GO:0005813, cytosol, centrosome, centrosome, GO:0019894, GO:0005515, GO:0005085, GO:0005085, kinesin binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0090630, GO:0090307, GO:0090307, GO:0051496, GO:0051496, GO:0051298, GO:0035023, GO:0030036, GO:0022011, activation of GTPase activity, mitotic spindle assembly, mitotic spindle assembly, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, centrosome duplication, regulation of Rho protein signal transduction, actin cytoskeleton organization, myelination in peripheral nervous system, 0 0 0 0 0 0 0 0 0 ENSG00000104731 chr16 87696485 87765992 - KLHDC4 protein_coding 54758 GO:0005515, protein binding, 40 37 76 133 48 132 115 50 62 ENSG00000104738 chr8 47960185 47978160 + MCM4 protein_coding The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. 4173 GO:0071162, GO:0042555, GO:0042555, GO:0016020, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, CMG complex, MCM complex, MCM complex, membrane, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0005524, GO:0005515, GO:0003697, GO:0003688, GO:0003678, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, DNA helicase activity, GO:1902975, GO:0006271, GO:0006268, GO:0006267, GO:0006260, GO:0006260, GO:0000727, GO:0000082, mitotic DNA replication initiation, DNA strand elongation involved in DNA replication, DNA unwinding involved in DNA replication, pre-replicative complex assembly involved in nuclear cell cycle DNA replication, DNA replication, DNA replication, double-strand break repair via break-induced replication, G1/S transition of mitotic cell cycle, 18 10 17 40 13 42 21 19 15 ENSG00000104755 chr8 39743735 39838289 - ADAM2 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]. 2515 GO:0032991, GO:0009986, GO:0005887, GO:0005886, protein-containing complex, cell surface, integral component of plasma membrane, plasma membrane, GO:0008237, GO:0005178, GO:0004222, metallopeptidase activity, integrin binding, metalloendopeptidase activity, GO:0030534, GO:0010628, GO:0008542, GO:0007342, GO:0007339, GO:0007339, GO:0007155, GO:0006508, adult behavior, positive regulation of gene expression, visual learning, fusion of sperm to egg plasma membrane involved in single fertilization, binding of sperm to zona pellucida, binding of sperm to zona pellucida, cell adhesion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000104756 chr8 25427847 25458476 - KCTD9 protein_coding 54793 GO:0097602, GO:0043621, GO:0042802, GO:0005515, cullin family protein binding, protein self-association, identical protein binding, protein binding, GO:0051260, GO:0035556, GO:0016567, protein homooligomerization, intracellular signal transduction, protein ubiquitination, 121 129 179 149 171 212 183 145 161 ENSG00000104760 chr8 17864380 17910365 - FGL1 protein_coding Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008]. 2267 GO:0062023, GO:0005615, GO:0005577, GO:0005576, collagen-containing extracellular matrix, extracellular space, fibrinogen complex, extracellular region, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0072574, GO:0050868, GO:0050868, GO:0050776, GO:0050776, GO:0002250, hepatocyte proliferation, negative regulation of T cell activation, negative regulation of T cell activation, regulation of immune response, regulation of immune response, adaptive immune response, 0 3 0 0 0 0 0 0 0 ENSG00000104763 chr8 18055992 18084998 - ASAH1 protein_coding This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]. 427 GO:1904813, GO:1904724, GO:0070062, GO:0043202, GO:0005783, GO:0005769, GO:0005764, GO:0005634, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, lysosomal lumen, endoplasmic reticulum, early endosome, lysosome, nucleus, extracellular space, extracellular region, GO:0102121, GO:0017064, GO:0017040, GO:0017040, GO:0017040, GO:0016811, GO:0016810, ceramidase activity, fatty acid amide hydrolase activity, N-acylsphingosine amidohydrolase activity, N-acylsphingosine amidohydrolase activity, N-acylsphingosine amidohydrolase activity, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, GO:0071356, GO:0062098, GO:0050810, GO:0046514, GO:0046514, GO:0046513, GO:0046512, GO:0046512, GO:0043312, GO:0030216, GO:0006687, GO:0006631, cellular response to tumor necrosis factor, regulation of programmed necrotic cell death, regulation of steroid biosynthetic process, ceramide catabolic process, ceramide catabolic process, ceramide biosynthetic process, sphingosine biosynthetic process, sphingosine biosynthetic process, neutrophil degranulation, keratinocyte differentiation, glycosphingolipid metabolic process, fatty acid metabolic process, 7008 6948 6276 3322 5950 3913 3749 4771 3283 ENSG00000104765 chr8 26382898 26505636 + BNIP3L protein_coding This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]. 665 GO:0031224, GO:0016607, GO:0016021, GO:0005829, GO:0005783, GO:0005783, GO:0005741, GO:0005741, GO:0005741, GO:0005739, GO:0005635, GO:0005635, GO:0005634, intrinsic component of membrane, nuclear speck, integral component of membrane, cytosol, endoplasmic reticulum, endoplasmic reticulum, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, nuclear envelope, nuclear envelope, nucleus, GO:0042803, GO:0042802, GO:0005521, GO:0005521, GO:0005515, protein homodimerization activity, identical protein binding, lamin binding, lamin binding, protein binding, GO:0097345, GO:0071456, GO:0060548, GO:0051607, GO:0051607, GO:0043067, GO:0043066, GO:0043065, GO:0042981, GO:0035694, GO:0016239, GO:0016032, GO:0010917, mitochondrial outer membrane permeabilization, cellular response to hypoxia, negative regulation of cell death, defense response to virus, defense response to virus, regulation of programmed cell death, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, mitochondrial protein catabolic process, positive regulation of macroautophagy, viral process, negative regulation of mitochondrial membrane potential, 2024 2257 2518 799 1639 1156 977 1462 1096 ENSG00000104774 chr19 12646511 12666742 - MAN2B1 protein_coding This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]. 4125 GO:0070062, GO:0043202, GO:0035578, GO:0005774, GO:0005764, GO:0005615, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, vacuolar membrane, lysosome, extracellular space, extracellular region, GO:0046872, GO:0030246, GO:0004559, metal ion binding, carbohydrate binding, alpha-mannosidase activity, GO:0043312, GO:0009313, GO:0006517, GO:0006464, GO:0006013, neutrophil degranulation, oligosaccharide catabolic process, protein deglycosylation, cellular protein modification process, mannose metabolic process, 485 534 827 461 583 588 501 416 397 ENSG00000104783 chr19 43766533 43781261 - KCNN4 protein_coding The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]. 3783 GO:0043025, GO:0043005, GO:0031982, GO:0008076, GO:0005886, GO:0005886, GO:0005886, neuronal cell body, neuron projection, vesicle, voltage-gated potassium channel complex, plasma membrane, plasma membrane, plasma membrane, GO:0022894, GO:0019903, GO:0016286, GO:0015269, GO:0005516, GO:0005515, GO:0005267, Intermediate conductance calcium-activated potassium channel activity, protein phosphatase binding, small conductance calcium-activated potassium channel activity, calcium-activated potassium channel activity, calmodulin binding, protein binding, potassium channel activity, GO:0071805, GO:0050862, GO:0050714, GO:0046541, GO:0045332, GO:0030322, GO:0006952, GO:0006884, GO:0006816, GO:0006813, GO:0006811, GO:0002376, potassium ion transmembrane transport, positive regulation of T cell receptor signaling pathway, positive regulation of protein secretion, saliva secretion, phospholipid translocation, stabilization of membrane potential, defense response, cell volume homeostasis, calcium ion transport, potassium ion transport, ion transport, immune system process, 5 6 16 25 18 2 4 18 3 ENSG00000104804 chr19 48880965 48898733 - TULP2 protein_coding TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]. 7288 GO:0005929, GO:0005737, GO:0005576, cilium, cytoplasm, extracellular region, GO:0044877, protein-containing complex binding, GO:0061512, GO:0007601, protein localization to cilium, visual perception, 0 6 1 47 54 105 34 15 41 ENSG00000104805 chr19 48900050 48923372 + NUCB1 protein_coding This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]. 4924 GO:0098547, GO:0090498, GO:0070062, GO:0032580, GO:0016020, GO:0005802, GO:0005801, GO:0005798, GO:0005793, GO:0005793, GO:0005791, GO:0005788, GO:0005769, GO:0005634, GO:0005615, lumenal side of Golgi membrane, extrinsic component of Golgi membrane, extracellular exosome, Golgi cisterna membrane, membrane, trans-Golgi network, cis-Golgi network, Golgi-associated vesicle, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, rough endoplasmic reticulum, endoplasmic reticulum lumen, early endosome, nucleus, extracellular space, GO:0005515, GO:0005509, GO:0005085, GO:0003677, GO:0001965, protein binding, calcium ion binding, guanyl-nucleotide exchange factor activity, DNA binding, G-protein alpha-subunit binding, GO:1903533, GO:0072718, GO:0044267, GO:0043687, GO:0007264, regulation of protein targeting, response to cisplatin, cellular protein metabolic process, post-translational protein modification, small GTPase mediated signal transduction, 1404 1481 2005 523 905 886 706 818 811 ENSG00000104808 chr19 48933682 48944969 + DHDH protein_coding This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]. 27294 GO:0047837, GO:0047115, GO:0009055, GO:0008746, D-xylose 1-dehydrogenase (NADP+) activity, trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity, electron transfer activity, NAD(P)+ transhydrogenase activity, GO:0042843, GO:0022900, GO:0005975, D-xylose catabolic process, electron transport chain, carbohydrate metabolic process, 3 6 3 28 15 22 11 8 16 ENSG00000104812 chr19 48968125 48993310 - GYS1 protein_coding The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 2997 GO:0016020, GO:0005829, GO:0005737, membrane, cytosol, cytoplasm, GO:0061547, GO:0019901, GO:0005536, GO:0005515, GO:0004373, GO:0004373, GO:0004373, glycogen synthase activity, transferring glucose-1-phosphate, protein kinase binding, glucose binding, protein binding, glycogen (starch) synthase activity, glycogen (starch) synthase activity, glycogen (starch) synthase activity, GO:0005978, GO:0005978, GO:0005978, GO:0005978, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, 118 88 149 220 231 362 192 109 204 ENSG00000104814 chr19 38587641 38618882 - MAP4K1 protein_coding 11184 GO:0016020, membrane, GO:0106311, GO:0106310, GO:0008349, GO:0008349, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, MAP kinase kinase kinase kinase activity, MAP kinase kinase kinase kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:1904628, GO:0046777, GO:0018105, GO:0008283, GO:0007257, GO:0006468, GO:0000185, cellular response to phorbol 13-acetate 12-myristate, protein autophosphorylation, peptidyl-serine phosphorylation, cell population proliferation, activation of JUN kinase activity, protein phosphorylation, activation of MAPKKK activity, 45 49 114 214 48 270 151 63 140 ENSG00000104818 chr19 49031912 49033238 + CGB2 protein_coding The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]. 114336 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0005179, hormone activity, GO:0009755, GO:0007186, hormone-mediated signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000104823 chr19 38815422 38832005 - ECH1 protein_coding This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]. 1891 GO:0070062, GO:0016020, GO:0005829, GO:0005782, GO:0005777, GO:0005739, extracellular exosome, membrane, cytosol, peroxisomal matrix, peroxisome, mitochondrion, GO:0051750, GO:0005515, delta3,5-delta2,4-dienoyl-CoA isomerase activity, protein binding, GO:0006635, GO:0006625, fatty acid beta-oxidation, protein targeting to peroxisome, 29 50 52 56 86 107 56 44 69 ENSG00000104824 chr19 38836388 38852347 - HNRNPL protein_coding Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3191 GO:1990904, GO:0070062, GO:0045120, GO:0035770, GO:0016020, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, extracellular exosome, pronucleus, ribonucleoprotein granule, membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0097157, GO:0005515, GO:0003729, GO:0003723, GO:0000976, pre-mRNA intronic binding, protein binding, mRNA binding, RNA binding, transcription regulatory region sequence-specific DNA binding, GO:0043484, GO:0016070, GO:0006417, GO:0006396, GO:0000398, GO:0000381, GO:0000381, regulation of RNA splicing, RNA metabolic process, regulation of translation, RNA processing, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 1994 2099 2248 2670 3331 3334 2469 1980 2402 ENSG00000104825 chr19 38899700 38908893 + NFKBIB protein_coding The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011]. 4793 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:1903508, GO:0071222, GO:0007253, GO:0007165, GO:0006351, positive regulation of nucleic acid-templated transcription, cellular response to lipopolysaccharide, cytoplasmic sequestering of NF-kappaB, signal transduction, transcription, DNA-templated, 398 411 817 502 607 1054 635 593 956 ENSG00000104826 chr19 49015980 49017091 - LHB protein_coding This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]. 3972 GO:0005796, GO:0005737, GO:0005615, GO:0005576, Golgi lumen, cytoplasm, extracellular space, extracellular region, GO:0005515, GO:0005179, GO:0005102, protein binding, hormone activity, signaling receptor binding, GO:0016486, GO:0009755, GO:0008584, GO:0007267, GO:0007186, GO:0007186, GO:0007165, GO:0006701, peptide hormone processing, hormone-mediated signaling pathway, male gonad development, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, progesterone biosynthetic process, 0 0 0 0 0 0 0 1 0 ENSG00000104827 chr19 49022869 49024333 - CGB3 protein_coding This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]. 1082 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0005515, GO:0005179, protein binding, hormone activity, GO:0016486, GO:0009755, GO:0007292, GO:0007267, GO:0007186, GO:0007165, GO:0006915, GO:0006357, peptide hormone processing, hormone-mediated signaling pathway, female gamete generation, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, apoptotic process, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000104833 chr19 6494319 6502848 - TUBB4A protein_coding This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]. 10382 GO:0070062, GO:0043209, GO:0043025, GO:0033269, GO:0005930, GO:0005874, GO:0005874, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, myelin sheath, neuronal cell body, internode region of axon, axoneme, microtubule, microtubule, cytosol, cytoplasm, nucleus, GO:0005525, GO:0005515, GO:0005509, GO:0005200, GO:0003924, GTP binding, protein binding, calcium ion binding, structural constituent of cytoskeleton, GTPase activity, GO:0097711, GO:0031115, GO:0010389, GO:0000278, GO:0000226, GO:0000086, ciliary basal body-plasma membrane docking, negative regulation of microtubule polymerization, regulation of G2/M transition of mitotic cell cycle, mitotic cell cycle, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 0 0 3 1 0 2 12 2 14 ENSG00000104835 chr19 38915266 38930896 - SARS2 protein_coding This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]. 54938 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0005524, GO:0005515, GO:0004828, GO:0004828, GO:0003723, GO:0000049, ATP binding, protein binding, serine-tRNA ligase activity, serine-tRNA ligase activity, RNA binding, tRNA binding, GO:0097056, GO:0070158, GO:0006434, GO:0006434, GO:0006418, selenocysteinyl-tRNA(Sec) biosynthetic process, mitochondrial seryl-tRNA aminoacylation, seryl-tRNA aminoacylation, seryl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 0 1 2 0 1 0 0 1 2 ENSG00000104848 chr19 49067418 49072941 - KCNA7 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]. 3743 GO:0016021, GO:0008076, GO:0005886, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, GO:0005251, GO:0005249, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0051260, GO:0034765, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000104852 chr19 49085419 49108605 + SNRNP70 protein_coding 6625 GO:0071004, GO:0016607, GO:0005685, GO:0005685, GO:0005681, GO:0005654, GO:0005654, GO:0005634, U2-type prespliceosome, nuclear speck, U1 snRNP, U1 snRNP, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0030619, GO:0030619, GO:0017069, GO:0005515, GO:0003729, GO:0003723, GO:0003723, U1 snRNA binding, U1 snRNA binding, snRNA binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:1904715, GO:0061084, GO:0048026, GO:0043484, GO:0043462, GO:0000398, GO:0000398, GO:0000398, GO:0000398, negative regulation of chaperone-mediated autophagy, negative regulation of protein refolding, positive regulation of mRNA splicing, via spliceosome, regulation of RNA splicing, regulation of ATPase activity, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 2742 3311 3360 4338 5202 4792 4110 3418 3521 ENSG00000104853 chr19 44954585 44993341 + CLPTM1 protein_coding 1209 GO:0016020, GO:0016020, GO:0012505, GO:0009897, GO:0005887, membrane, membrane, endomembrane system, external side of plasma membrane, integral component of plasma membrane, GO:0005515, protein binding, GO:0033081, GO:0030154, GO:0007275, regulation of T cell differentiation in thymus, cell differentiation, multicellular organism development, 599 699 784 491 594 506 518 499 449 ENSG00000104856 chr19 45001430 45038198 + RELB protein_coding 5971 GO:0032991, GO:0017053, GO:0005829, GO:0005829, GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, protein-containing complex, transcription repressor complex, cytosol, cytosol, centrosome, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0042802, GO:0019901, GO:0005515, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, identical protein binding, protein kinase binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071470, GO:0045087, GO:0045063, GO:0043011, GO:0038061, GO:0038061, GO:0034097, GO:0033554, GO:0032922, GO:0032688, GO:0030098, GO:0019882, GO:0007249, GO:0006954, GO:0006357, GO:0002223, cellular response to osmotic stress, innate immune response, T-helper 1 cell differentiation, myeloid dendritic cell differentiation, NIK/NF-kappaB signaling, NIK/NF-kappaB signaling, response to cytokine, cellular response to stress, circadian regulation of gene expression, negative regulation of interferon-beta production, lymphocyte differentiation, antigen processing and presentation, I-kappaB kinase/NF-kappaB signaling, inflammatory response, regulation of transcription by RNA polymerase II, stimulatory C-type lectin receptor signaling pathway, 1460 992 3019 844 739 1368 881 564 815 ENSG00000104859 chr19 45039040 45070956 + CLASRP protein_coding 11129 GO:0005654, nucleoplasm, GO:0005515, protein binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 1029 1142 1295 1272 1650 1531 1263 1069 1224 ENSG00000104863 chr19 49114324 49118460 + LIN7B protein_coding 64130 GO:0098839, GO:0098793, GO:0097025, GO:0045202, GO:0016323, GO:0005923, GO:0005911, GO:0005886, postsynaptic density membrane, presynapse, MPP7-DLG1-LIN7 complex, synapse, basolateral plasma membrane, bicellular tight junction, cell-cell junction, plasma membrane, GO:0097016, GO:0019904, GO:0005515, L27 domain binding, protein domain specific binding, protein binding, GO:1903361, GO:0045199, GO:0015031, GO:0007269, GO:0007269, GO:0006887, protein localization to basolateral plasma membrane, maintenance of epithelial cell apical/basal polarity, protein transport, neurotransmitter secretion, neurotransmitter secretion, exocytosis, 0 0 0 6 5 10 1 7 11 ENSG00000104866 chr19 45091396 45148077 + PPP1R37 protein_coding 284352 GO:0005515, GO:0004864, protein binding, protein phosphatase inhibitor activity, GO:0032515, GO:0010923, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, 67 59 100 67 67 67 67 73 109 ENSG00000104870 chr19 49506816 49526333 + FCGRT protein_coding This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 2217 GO:0016021, GO:0010008, GO:0009897, GO:0005615, integral component of membrane, endosome membrane, external side of plasma membrane, extracellular space, GO:0042605, GO:0030881, GO:0019864, GO:0005515, peptide antigen binding, beta-2-microglobulin binding, IgG binding, protein binding, GO:0006955, GO:0002416, immune response, IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor, 5397 6265 7037 2739 4685 4086 3092 4064 3873 ENSG00000104872 chr19 49446298 49453497 - PIH1D1 protein_coding 55011 GO:1990904, GO:0097255, GO:0097255, GO:0070761, GO:0005737, GO:0005737, GO:0005730, GO:0005634, ribonucleoprotein complex, R2TP complex, R2TP complex, pre-snoRNP complex, cytoplasm, cytoplasm, nucleolus, nucleus, GO:0051219, GO:0051117, GO:0042393, GO:0019901, GO:0005515, GO:0001165, GO:0001164, phosphoprotein binding, ATPase binding, histone binding, protein kinase binding, protein binding, RNA polymerase I cis-regulatory region sequence-specific DNA binding, RNA polymerase I core promoter sequence-specific DNA binding, GO:2001268, GO:2000619, GO:2000617, GO:1904263, GO:1903939, GO:1902661, GO:1901838, GO:1901838, GO:1900113, GO:1900110, GO:0090240, GO:0071902, GO:0071169, GO:0051569, GO:0048254, GO:0031334, GO:0031334, GO:0030855, GO:0006364, GO:0006338, GO:0001188, GO:0000492, GO:0000492, negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, negative regulation of histone H4-K16 acetylation, positive regulation of histone H3-K9 acetylation, positive regulation of TORC1 signaling, regulation of TORC2 signaling, positive regulation of glucose mediated signaling pathway, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, negative regulation of histone H3-K9 trimethylation, negative regulation of histone H3-K9 dimethylation, positive regulation of histone H4 acetylation, positive regulation of protein serine/threonine kinase activity, establishment of protein localization to chromatin, regulation of histone H3-K4 methylation, snoRNA localization, positive regulation of protein-containing complex assembly, positive regulation of protein-containing complex assembly, epithelial cell differentiation, rRNA processing, chromatin remodeling, RNA polymerase I preinitiation complex assembly, box C/D snoRNP assembly, box C/D snoRNP assembly, 41 65 103 122 57 129 83 46 74 ENSG00000104879 chr19 45306414 45322977 - CKM protein_coding The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]. 1158 GO:0005829, GO:0005615, cytosol, extracellular space, GO:0016301, GO:0005524, GO:0005515, GO:0004111, kinase activity, ATP binding, protein binding, creatine kinase activity, GO:0046314, GO:0016310, GO:0006600, phosphocreatine biosynthetic process, phosphorylation, creatine metabolic process, 2 1 3 7 4 13 3 7 4 ENSG00000104880 chr19 7395113 7472477 + ARHGEF18 protein_coding Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]. 23370 GO:0070062, GO:0045177, GO:0030054, GO:0016324, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, extracellular exosome, apical part of cell, cell junction, apical plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, GO:0046872, GO:0005515, GO:0005085, GO:0005085, metal ion binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0150105, GO:0051497, GO:0051056, GO:0043065, GO:0035023, GO:0030036, GO:0008360, GO:0007264, GO:0007186, GO:0007179, protein localization to cell-cell junction, negative regulation of stress fiber assembly, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, regulation of Rho protein signal transduction, actin cytoskeleton organization, regulation of cell shape, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, transforming growth factor beta receptor signaling pathway, 97 119 124 92 83 145 108 83 59 ENSG00000104881 chr19 45379634 45406349 - PPP1R13L protein_coding IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]. 10848 GO:0045171, GO:0030054, GO:0005829, GO:0005654, GO:0005634, intercellular bridge, cell junction, cytosol, nucleoplasm, nucleus, GO:0045296, GO:0042802, GO:0008134, GO:0005515, GO:0003714, cadherin binding, identical protein binding, transcription factor binding, protein binding, transcription corepressor activity, GO:1901796, GO:0060048, GO:0048871, GO:0045597, GO:0042633, GO:0035264, GO:0031076, GO:0009791, GO:0006915, GO:0006357, GO:0006351, GO:0003229, GO:0003215, GO:0000122, regulation of signal transduction by p53 class mediator, cardiac muscle contraction, multicellular organismal homeostasis, positive regulation of cell differentiation, hair cycle, multicellular organism growth, embryonic camera-type eye development, post-embryonic development, apoptotic process, regulation of transcription by RNA polymerase II, transcription, DNA-templated, ventricular cardiac muscle tissue development, cardiac right ventricle morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 2 7 8 11 0 0 10 ENSG00000104883 chr19 7476875 7497449 - PEX11G protein_coding The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 92960 GO:0032991, GO:0031231, GO:0005779, GO:0005777, protein-containing complex, intrinsic component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisome, GO:0005515, protein binding, GO:0044375, GO:0016559, regulation of peroxisome size, peroxisome fission, 52 32 34 12 45 58 15 19 21 ENSG00000104884 chr19 45349837 45370918 - ERCC2 protein_coding The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 2068 GO:0071817, GO:0070516, GO:0005829, GO:0005819, GO:0005737, GO:0005675, GO:0005675, GO:0005669, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000439, MMXD complex, CAK-ERCC2 complex, cytosol, spindle, cytoplasm, transcription factor TFIIH holo complex, transcription factor TFIIH holo complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, nucleus, transcription factor TFIIH core complex, GO:0051539, GO:0047485, GO:0046872, GO:0043139, GO:0030674, GO:0008022, GO:0005524, GO:0005515, GO:0003684, GO:0003678, 4 iron, 4 sulfur cluster binding, protein N-terminus binding, metal ion binding, 5'-3' DNA helicase activity, protein-macromolecule adaptor activity, protein C-terminus binding, ATP binding, protein binding, damaged DNA binding, DNA helicase activity, GO:1901990, GO:0070911, GO:0060218, GO:0048820, GO:0048568, GO:0045951, GO:0043388, GO:0043249, GO:0040016, GO:0035315, GO:0035264, GO:0033683, GO:0033683, GO:0033683, GO:0032289, GO:0030282, GO:0030198, GO:0021510, GO:0016032, GO:0009791, GO:0009650, GO:0009411, GO:0008283, GO:0007568, GO:0007059, GO:0006979, GO:0006979, GO:0006915, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006289, GO:0006283, GO:0006283, GO:0001701, GO:0001666, GO:0000717, GO:0000717, GO:0000462, regulation of mitotic cell cycle phase transition, global genome nucleotide-excision repair, hematopoietic stem cell differentiation, hair follicle maturation, embryonic organ development, positive regulation of mitotic recombination, positive regulation of DNA binding, erythrocyte maturation, embryonic cleavage, hair cell differentiation, multicellular organism growth, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA incision, central nervous system myelin formation, bone mineralization, extracellular matrix organization, spinal cord development, viral process, post-embryonic development, UV protection, response to UV, cell population proliferation, aging, chromosome segregation, response to oxidative stress, response to oxidative stress, apoptotic process, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, in utero embryonic development, response to hypoxia, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA duplex unwinding, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 9 6 8 16 11 18 15 7 17 ENSG00000104885 chr19 2164149 2232578 + DOT1L protein_coding The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]. 84444 GO:0043231, GO:0032991, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, intracellular membrane-bounded organelle, protein-containing complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0042054, GO:0031151, GO:0018024, GO:0018024, GO:0005515, GO:0003677, histone methyltransferase activity, histone methyltransferase activity (H3-K79 specific), histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, protein binding, DNA binding, GO:2000677, GO:2000677, GO:0046425, GO:0045944, GO:0034729, GO:0032200, GO:0008284, GO:0006348, GO:0006281, GO:0000077, regulation of transcription regulatory region DNA binding, regulation of transcription regulatory region DNA binding, regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription by RNA polymerase II, histone H3-K79 methylation, telomere organization, positive regulation of cell population proliferation, chromatin silencing at telomere, DNA repair, DNA damage checkpoint, 682 571 2389 256 224 407 276 216 307 ENSG00000104886 chr19 2230084 2237704 - PLEKHJ1 protein_coding 55111 GO:0055037, GO:0005829, GO:0005802, GO:0005769, recycling endosome, cytosol, trans-Golgi network, early endosome, GO:0005515, protein binding, GO:0042147, GO:0007032, GO:0001881, retrograde transport, endosome to Golgi, endosome organization, receptor recycling, 222 217 490 131 171 201 144 153 153 ENSG00000104888 chr19 49429401 49442360 - SLC17A7 protein_coding The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]. 57030 GO:0098794, GO:0060203, GO:0060076, GO:0048786, GO:0044300, GO:0030672, GO:0030285, GO:0016021, GO:0016021, GO:0005886, postsynapse, clathrin-sculpted glutamate transport vesicle membrane, excitatory synapse, presynaptic active zone, cerebellar mossy fiber, synaptic vesicle membrane, integral component of synaptic vesicle membrane, integral component of membrane, integral component of membrane, plasma membrane, GO:0022857, GO:0015319, GO:0008068, GO:0005436, GO:0005326, GO:0005313, GO:0005313, transmembrane transporter activity, sodium:inorganic phosphate symporter activity, extracellularly glutamate-gated chloride channel activity, sodium:phosphate symporter activity, neurotransmitter transmembrane transporter activity, L-glutamate transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:1902476, GO:1900242, GO:0098700, GO:0097401, GO:0060079, GO:0051938, GO:0050803, GO:0042137, GO:0035725, GO:0035249, GO:0015813, GO:0014047, GO:0007616, GO:0007420, GO:0006820, GO:0006817, GO:0006811, GO:0003407, chloride transmembrane transport, regulation of synaptic vesicle endocytosis, neurotransmitter loading into synaptic vesicle, synaptic vesicle lumen acidification, excitatory postsynaptic potential, L-glutamate import, regulation of synapse structure or activity, sequestering of neurotransmitter, sodium ion transmembrane transport, synaptic transmission, glutamatergic, L-glutamate transmembrane transport, glutamate secretion, long-term memory, brain development, anion transport, phosphate ion transport, ion transport, neural retina development, 0 0 0 0 0 0 0 3 0 ENSG00000104889 chr19 12806556 12815201 + RNASEH2A protein_coding The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]. 10535 GO:0032299, GO:0032299, GO:0005829, GO:0005654, ribonuclease H2 complex, ribonuclease H2 complex, cytosol, nucleoplasm, GO:0046872, GO:0004540, GO:0004523, GO:0004523, GO:0003723, metal ion binding, ribonuclease activity, RNA-DNA hybrid ribonuclease activity, RNA-DNA hybrid ribonuclease activity, RNA binding, GO:0090502, GO:0043137, GO:0006401, GO:0006298, GO:0006298, GO:0006260, RNA phosphodiester bond hydrolysis, endonucleolytic, DNA replication, removal of RNA primer, RNA catabolic process, mismatch repair, mismatch repair, DNA replication, 0 0 0 0 2 0 0 0 0 ENSG00000104892 chr19 45333434 45351520 + KLC3 protein_coding This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]. 147700 GO:0043005, GO:0035253, GO:0031514, GO:0005874, GO:0005871, GO:0005737, neuron projection, ciliary rootlet, motile cilium, microtubule, kinesin complex, cytoplasm, GO:0019894, GO:0008017, GO:0005515, kinesin binding, microtubule binding, protein binding, GO:0008088, axo-dendritic transport, 1 0 1 0 2 0 8 0 0 ENSG00000104894 chr19 49335171 49343335 + CD37 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 951 GO:0070062, GO:0016020, GO:0005887, GO:0001772, extracellular exosome, membrane, integral component of plasma membrane, immunological synapse, GO:0005515, protein binding, 2713 3108 3774 1782 3019 2622 2076 2552 2252 ENSG00000104897 chr19 2236504 2248679 + SF3A2 protein_coding This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008]. 8175 GO:0071013, GO:0071013, GO:0071005, GO:0071004, GO:0016607, GO:0005686, GO:0005686, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U2-type prespliceosome, nuclear speck, U2 snRNP, U2 snRNP, spliceosomal complex, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003723, zinc ion binding, protein binding, RNA binding, GO:1903241, GO:0010976, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000389, GO:0000245, U2-type prespliceosome assembly, positive regulation of neuron projection development, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA 3'-splice site recognition, spliceosomal complex assembly, 237 271 328 285 278 358 315 250 340 ENSG00000104899 chr19 2249309 2252073 + AMH protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]. 268 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0008083, GO:0005179, GO:0005160, GO:0005102, growth factor activity, hormone activity, transforming growth factor beta receptor binding, signaling receptor binding, GO:2000355, GO:0051092, GO:0042493, GO:0030509, GO:0014070, GO:0010628, GO:0007568, GO:0007548, GO:0007530, GO:0007506, GO:0007267, GO:0001880, GO:0001880, GO:0001880, GO:0001655, GO:0001546, negative regulation of ovarian follicle development, positive regulation of NF-kappaB transcription factor activity, response to drug, BMP signaling pathway, response to organic cyclic compound, positive regulation of gene expression, aging, sex differentiation, sex determination, gonadal mesoderm development, cell-cell signaling, Mullerian duct regression, Mullerian duct regression, Mullerian duct regression, urogenital system development, preantral ovarian follicle growth, 0 0 1 9 4 2 4 3 14 ENSG00000104901 chr19 49361783 49375116 + DKKL1 protein_coding The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]. 27120 GO:0005615, GO:0001669, extracellular space, acrosomal vesicle, GO:0048019, GO:0039706, receptor antagonist activity, co-receptor binding, GO:2000272, GO:2000225, GO:0090090, GO:0045600, GO:0043065, GO:0009653, GO:0007341, negative regulation of signaling receptor activity, negative regulation of testosterone biosynthetic process, negative regulation of canonical Wnt signaling pathway, positive regulation of fat cell differentiation, positive regulation of apoptotic process, anatomical structure morphogenesis, penetration of zona pellucida, 0 0 0 0 0 0 0 0 0 ENSG00000104903 chr19 13099033 13103161 - LYL1 protein_coding This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010]. 4066 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046983, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060216, GO:0045893, GO:0030183, GO:0006357, GO:0006355, GO:0001955, definitive hemopoiesis, positive regulation of transcription, DNA-templated, B cell differentiation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, blood vessel maturation, 255 251 263 131 271 123 163 241 114 ENSG00000104904 chr19 2269509 2273490 + OAZ1 protein_coding The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014]. 4946 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0008073, GO:0008073, GO:0008073, GO:0005515, ornithine decarboxylase inhibitor activity, ornithine decarboxylase inhibitor activity, ornithine decarboxylase inhibitor activity, protein binding, GO:1902268, GO:0090316, GO:0045732, GO:0045732, GO:0045732, GO:0043086, GO:0006596, GO:0006521, negative regulation of polyamine transmembrane transport, positive regulation of intracellular protein transport, positive regulation of protein catabolic process, positive regulation of protein catabolic process, positive regulation of protein catabolic process, negative regulation of catalytic activity, polyamine biosynthetic process, regulation of cellular amino acid metabolic process, 8577 8498 11378 5414 10817 9031 6534 8708 7836 ENSG00000104907 chr19 13104902 13117567 - TRMT1 protein_coding This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]. 55621 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0004809, GO:0004809, GO:0003723, GO:0000049, metal ion binding, protein binding, tRNA (guanine-N2-)-methyltransferase activity, tRNA (guanine-N2-)-methyltransferase activity, RNA binding, tRNA binding, GO:0006400, GO:0002940, tRNA modification, tRNA N2-guanine methylation, 37 45 80 107 74 92 99 57 73 ENSG00000104915 chr19 13144058 13150383 - STX10 protein_coding This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. 8677 GO:0048471, GO:0032588, GO:0031982, GO:0031201, GO:0030285, GO:0016021, GO:0012505, GO:0005829, GO:0005802, perinuclear region of cytoplasm, trans-Golgi network membrane, vesicle, SNARE complex, integral component of synaptic vesicle membrane, integral component of membrane, endomembrane system, cytosol, trans-Golgi network, GO:0019905, GO:0005515, GO:0005484, GO:0000149, syntaxin binding, protein binding, SNAP receptor activity, SNARE binding, GO:0048278, GO:0042147, GO:0042147, GO:0034498, GO:0032880, GO:0006906, GO:0006886, vesicle docking, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, early endosome to Golgi transport, regulation of protein localization, vesicle fusion, intracellular protein transport, 1157 1040 1404 449 856 738 487 811 702 ENSG00000104918 chr19 7669044 7670454 + RETN protein_coding This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. The encoded protein also has an antimicrobial role in skin, displaying antibacterial activity against both Gram positive and Gram negative bacteria. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2020]. 56729 GO:0070062, GO:0035580, GO:0035578, GO:0005615, GO:0005576, extracellular exosome, specific granule lumen, azurophil granule lumen, extracellular space, extracellular region, GO:0005515, GO:0005179, protein binding, hormone activity, GO:0043312, GO:0008150, GO:0007165, neutrophil degranulation, biological_process, signal transduction, 0 8 5 1 6 7 4 4 7 ENSG00000104921 chr19 7688758 7702146 - FCER2 protein_coding The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]. 2208 GO:0070062, GO:0009897, GO:0005887, GO:0005886, extracellular exosome, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0030246, GO:0019863, GO:0005515, GO:0005178, metal ion binding, carbohydrate binding, IgE binding, protein binding, integrin binding, GO:0051770, GO:0051712, GO:0051000, GO:0019221, GO:0007219, GO:0002925, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of killing of cells of other organism, positive regulation of nitric-oxide synthase activity, cytokine-mediated signaling pathway, Notch signaling pathway, positive regulation of humoral immune response mediated by circulating immunoglobulin, 3 26 10 23 60 34 24 46 14 ENSG00000104936 chr19 45769717 45782552 - DMPK protein_coding The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]. 1760 GO:0033017, GO:0033017, GO:0031965, GO:0031307, GO:0005886, GO:0005829, GO:0005789, GO:0005640, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, nuclear membrane, integral component of mitochondrial outer membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, nuclear outer membrane, GO:0106311, GO:0106310, GO:0046872, GO:0017020, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, myosin phosphatase regulator activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1903779, GO:0051823, GO:0043666, GO:0035556, GO:0018105, GO:0014853, GO:0014722, GO:0010830, GO:0010657, GO:0008016, GO:0008016, GO:0006998, GO:0006998, GO:0006874, GO:0006874, GO:0006468, GO:0002028, regulation of cardiac conduction, regulation of synapse structural plasticity, regulation of phosphoprotein phosphatase activity, intracellular signal transduction, peptidyl-serine phosphorylation, regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction, regulation of skeletal muscle contraction by calcium ion signaling, regulation of myotube differentiation, muscle cell apoptotic process, regulation of heart contraction, regulation of heart contraction, nuclear envelope organization, nuclear envelope organization, cellular calcium ion homeostasis, cellular calcium ion homeostasis, protein phosphorylation, regulation of sodium ion transport, 21 7 28 20 22 30 43 7 26 ENSG00000104938 chr19 7763149 7769605 + CLEC4M protein_coding This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including tuberculosis mycobacteria, and viruses including Ebola, hepatitis C, HIV-1, influenza A, West Nile virus and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain of variable length, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CD209 (Gene ID: 30835), also known as DC-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression in endothelial cells of the liver, lymph node and placenta. Polymorphisms in the tandem repeat neck domain are associated with resistance to SARS infection. [provided by RefSeq, May 2020]. 10332 GO:0043657, GO:0016020, GO:0005887, GO:0005737, GO:0005576, host cell, membrane, integral component of plasma membrane, cytoplasm, extracellular region, GO:0048306, GO:0046872, GO:0046790, GO:0042605, GO:0038023, GO:0030369, GO:0030246, GO:0005537, GO:0005515, GO:0001618, GO:0001618, calcium-dependent protein binding, metal ion binding, virion binding, peptide antigen binding, signaling receptor activity, ICAM-3 receptor activity, carbohydrate binding, mannose binding, protein binding, virus receptor activity, virus receptor activity, GO:0075733, GO:0046968, GO:0046718, GO:0045087, GO:0035556, GO:0019882, GO:0019079, GO:0019062, GO:0019048, GO:0009988, GO:0007159, GO:0006897, GO:0002250, intracellular transport of virus, peptide antigen transport, viral entry into host cell, innate immune response, intracellular signal transduction, antigen processing and presentation, viral genome replication, virion attachment to host cell, modulation by virus of host process, cell-cell recognition, leukocyte cell-cell adhesion, endocytosis, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000104941 chr19 45795710 45815319 - RSPH6A protein_coding The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]. 81492 GO:0036126, GO:0005930, GO:0001534, sperm flagellum, axoneme, radial spoke, GO:0005515, protein binding, GO:1905199, GO:0060294, GO:0044458, GO:0035082, GO:0003341, manchette disassembly, cilium movement involved in cell motility, motile cilium assembly, axoneme assembly, cilium movement, 2 1 0 0 0 0 0 0 6 ENSG00000104946 chr19 49877425 49888749 + TBC1D17 protein_coding 79735 GO:0055037, GO:0005829, GO:0005776, recycling endosome, cytosol, autophagosome, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0042147, GO:0006914, GO:0006886, regulation of cilium assembly, activation of GTPase activity, retrograde transport, endosome to Golgi, autophagy, intracellular protein transport, 359 516 417 477 809 580 469 483 478 ENSG00000104951 chr19 49889654 49929539 - IL4I1 protein_coding This gene encodes a secreted L-amino acid oxidase protein which primarily catabolizes L-phenylalanine and, to a lesser extent, L-arginine. The expression of this gene is induced by the cytokine interleukin 4 in B cells. This gene is also expressed in macrophages and dendritic cells. This protein may play a role immune system escape as it is expressed in tumor-associated macrophages and suppresses T-cell responses. This protein also contains domains thought to be involved in the binding of flavin adenine dinucleotide (FAD) cofactor. Multiple transcript variants encoding different isoforms have been found for this gene. Some transcripts of this gene share a promoter and exons of the 5' UTR with the overlapping NUP62 gene. [provided by RefSeq, Jul 2020]. 259307 GO:0005764, GO:0005576, lysosome, extracellular region, GO:0046592, GO:0016491, GO:0005515, GO:0001716, polyamine oxidase activity, oxidoreductase activity, protein binding, L-amino-acid oxidase activity, GO:0055114, GO:0009063, GO:0006559, oxidation-reduction process, cellular amino acid catabolic process, L-phenylalanine catabolic process, 9 7 33 8 4 5 10 1 13 ENSG00000104953 chr19 2977446 2995184 + TLE6 protein_coding This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 79816 GO:0032991, GO:0005938, GO:0005667, GO:0005634, protein-containing complex, cell cortex, transcription regulator complex, nucleus, GO:0070491, GO:0005515, GO:0003714, repressing transcription factor binding, protein binding, transcription corepressor activity, GO:1903507, GO:0090090, GO:0060136, GO:0051646, GO:0051643, GO:0051302, GO:0051293, GO:0040019, GO:0007015, GO:0006355, negative regulation of nucleic acid-templated transcription, negative regulation of canonical Wnt signaling pathway, embryonic process involved in female pregnancy, mitochondrion localization, endoplasmic reticulum localization, regulation of cell division, establishment of spindle localization, positive regulation of embryonic development, actin filament organization, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000104957 chr19 13731760 13763296 + CCDC130 protein_coding 81576 GO:0071014, GO:0005684, GO:0005575, post-mRNA release spliceosomal complex, U2-type spliceosomal complex, cellular_component, GO:0005515, protein binding, GO:0009615, GO:0008380, response to virus, RNA splicing, 393 358 444 382 508 358 394 331 341 ENSG00000104960 chr19 49850735 49860744 + PTOV1 protein_coding This gene encodes a protein that was found to be overexpressed in prostate adenocarcinomas. The encoded protein was found to interact with the lipid raft protein flotillin-1 and shuttle it from the cytoplasm to the nucleus in a cell cycle dependent manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 53635 GO:0048471, GO:0005886, GO:0005667, GO:0005654, perinuclear region of cytoplasm, plasma membrane, transcription regulator complex, nucleoplasm, GO:0045944, positive regulation of transcription by RNA polymerase II, 1214 1691 1390 1398 2116 1457 1450 1548 1245 ENSG00000104964 chr19 3052910 3063107 - AES protein_coding The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 166 GO:0005667, GO:0005634, GO:0005634, transcription regulator complex, nucleus, nucleus, GO:0070491, GO:0005515, GO:0003714, GO:0003714, GO:0003714, repressing transcription factor binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, GO:2000210, GO:0090090, GO:0090090, GO:0070555, GO:0060761, GO:0045892, GO:0040008, GO:0032091, GO:0031668, GO:0016055, GO:0010629, GO:0009887, GO:0007275, GO:0001501, GO:0000122, positive regulation of anoikis, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, response to interleukin-1, negative regulation of response to cytokine stimulus, negative regulation of transcription, DNA-templated, regulation of growth, negative regulation of protein binding, cellular response to extracellular stimulus, Wnt signaling pathway, negative regulation of gene expression, animal organ morphogenesis, multicellular organism development, skeletal system development, negative regulation of transcription by RNA polymerase II, 479 379 811 1317 528 1678 1145 442 1231 ENSG00000104967 chr19 45933734 45973546 - NOVA2 protein_coding 4858 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0003729, GO:0003723, GO:0003723, mRNA binding, RNA binding, RNA binding, GO:0120163, GO:0051252, GO:0010468, GO:0000398, GO:0000381, negative regulation of cold-induced thermogenesis, regulation of RNA metabolic process, regulation of gene expression, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 3 1 0 0 0 0 ENSG00000104969 chr19 2754714 2783371 - SGTA protein_coding This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]. 6449 GO:0098850, GO:0072380, GO:0016020, GO:0016020, GO:0005829, GO:0005737, GO:0005634, extrinsic component of synaptic vesicle membrane, TRC complex, membrane, membrane, cytosol, cytoplasm, nucleus, GO:1904288, GO:0060090, GO:0043621, GO:0042802, GO:0005515, BAT3 complex binding, molecular adaptor activity, protein self-association, identical protein binding, protein binding, GO:2000059, GO:1903646, GO:1903071, GO:1903070, GO:0071816, GO:0030433, GO:0030433, GO:0016032, GO:0006620, negative regulation of ubiquitin-dependent protein catabolic process, positive regulation of chaperone-mediated protein folding, positive regulation of ER-associated ubiquitin-dependent protein catabolic process, negative regulation of ER-associated ubiquitin-dependent protein catabolic process, tail-anchored membrane protein insertion into ER membrane, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, viral process, posttranslational protein targeting to endoplasmic reticulum membrane, 444 493 502 456 405 436 579 451 376 ENSG00000104970 chr19 54532692 54545771 + KIR3DX1 transcribed_unprocessed_pseudogene 0 0 1 0 0 0 7 0 1 ENSG00000104972 chr19 54617158 54637528 + LILRB1 protein_coding This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10859 GO:0016021, GO:0009897, GO:0005886, GO:0005737, GO:0005576, integral component of membrane, external side of plasma membrane, plasma membrane, cytoplasm, extracellular region, GO:0042803, GO:0042288, GO:0042288, GO:0042288, GO:0042169, GO:0032394, GO:0032393, GO:0030109, GO:0030107, GO:0023029, GO:0023025, GO:0008157, GO:0005515, GO:0001540, protein homodimerization activity, MHC class I protein binding, MHC class I protein binding, MHC class I protein binding, SH2 domain binding, MHC class Ib receptor activity, MHC class I receptor activity, HLA-B specific inhibitory MHC class I receptor activity, HLA-A specific inhibitory MHC class I receptor activity, MHC class Ib protein binding, MHC class Ib protein complex binding, protein phosphatase 1 binding, protein binding, amyloid-beta binding, GO:2001205, GO:2001199, GO:2001193, GO:2001189, GO:2001186, GO:2000669, GO:0097028, GO:0071635, GO:0071222, GO:0060907, GO:0051926, GO:0051607, GO:0050776, GO:0046636, GO:0045953, GO:0045944, GO:0045806, GO:0045786, GO:0043065, GO:0042130, GO:0032945, GO:0032720, GO:0032695, GO:0032693, GO:0032689, GO:0032688, GO:0032609, GO:0031623, GO:0014063, GO:0010628, GO:0009615, GO:0007165, GO:0002774, GO:0002767, GO:0002719, GO:0002309, GO:0002250, GO:0002230, GO:0001915, negative regulation of osteoclast development, negative regulation of dendritic cell differentiation, positive regulation of gamma-delta T cell activation involved in immune response, negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, negative regulation of CD8-positive, alpha-beta T cell activation, negative regulation of dendritic cell apoptotic process, dendritic cell differentiation, negative regulation of transforming growth factor beta production, cellular response to lipopolysaccharide, positive regulation of macrophage cytokine production, negative regulation of calcium ion transport, defense response to virus, regulation of immune response, negative regulation of alpha-beta T cell activation, negative regulation of natural killer cell mediated cytotoxicity, positive regulation of transcription by RNA polymerase II, negative regulation of endocytosis, negative regulation of cell cycle, positive regulation of apoptotic process, negative regulation of T cell proliferation, negative regulation of mononuclear cell proliferation, negative regulation of tumor necrosis factor production, negative regulation of interleukin-12 production, negative regulation of interleukin-10 production, negative regulation of interferon-gamma production, negative regulation of interferon-beta production, interferon-gamma production, receptor internalization, negative regulation of serotonin secretion, positive regulation of gene expression, response to virus, signal transduction, Fc receptor mediated inhibitory signaling pathway, immune response-inhibiting cell surface receptor signaling pathway, negative regulation of cytokine production involved in immune response, T cell proliferation involved in immune response, adaptive immune response, positive regulation of defense response to virus by host, negative regulation of T cell mediated cytotoxicity, 2 1 3 6 5 2 2 5 6 ENSG00000104973 chr19 49818279 49840383 + MED25 protein_coding This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]. 81857 GO:0016592, GO:0005667, GO:0005654, GO:0005654, mediator complex, transcription regulator complex, nucleoplasm, nucleoplasm, GO:0046965, GO:0042974, GO:0008134, GO:0005515, GO:0001223, retinoid X receptor binding, retinoic acid receptor binding, transcription factor binding, protein binding, transcription coactivator binding, GO:2001178, GO:0071158, GO:0048147, GO:0045944, GO:0045944, GO:0035563, GO:0006367, GO:0000122, positive regulation of mediator complex assembly, positive regulation of cell cycle arrest, negative regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of chromatin binding, transcription initiation from RNA polymerase II promoter, negative regulation of transcription by RNA polymerase II, 3169 3878 3120 2266 3706 2715 2654 2813 2616 ENSG00000104974 chr19 54593582 54602090 + LILRA1 protein_coding This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]. 11024 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004888, GO:0003823, transmembrane signaling receptor activity, antigen binding, GO:0050776, GO:0007166, GO:0006952, GO:0002250, regulation of immune response, cell surface receptor signaling pathway, defense response, adaptive immune response, 0 86 0 0 1 0 0 1 0 ENSG00000104976 chr19 7920316 7923250 + SNAPC2 protein_coding This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. 6618 GO:0016604, GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0005634, nuclear body, nuclear body, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0016251, RNA polymerase II general transcription initiation factor activity, GO:0042795, GO:0009301, GO:0006383, GO:0006366, snRNA transcription by RNA polymerase II, snRNA transcription, transcription by RNA polymerase III, transcription by RNA polymerase II, 64 55 42 35 37 29 39 23 22 ENSG00000104979 chr19 13774168 13778462 + C19orf53 protein_coding 28974 155 138 140 230 246 200 150 195 115 ENSG00000104980 chr19 7926718 7943920 - TIMM44 protein_coding This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]. 10469 GO:0005759, GO:0005743, GO:0005743, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0051087, GO:0005524, GO:0005515, chaperone binding, ATP binding, protein binding, GO:0030150, GO:0006626, protein import into mitochondrial matrix, protein targeting to mitochondrion, 59 54 46 139 121 132 217 144 106 ENSG00000104983 chr19 45995461 46021318 + CCDC61 protein_coding 729440 GO:0005813, GO:0005813, centrosome, centrosome, 44 32 50 25 29 37 19 28 21 ENSG00000104998 chr19 14031748 14053216 + IL27RA protein_coding In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008]. 9466 GO:0072536, GO:0043235, GO:0042022, GO:0009897, GO:0005887, GO:0005886, interleukin-23 receptor complex, receptor complex, interleukin-12 receptor complex, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0045509, GO:0042019, GO:0019955, GO:0005515, GO:0005143, GO:0004896, GO:0004888, interleukin-27 receptor activity, interleukin-23 binding, cytokine binding, protein binding, interleukin-12 receptor binding, cytokine receptor activity, transmembrane signaling receptor activity, GO:2000408, GO:2000317, GO:0070757, GO:0070106, GO:0050830, GO:0048302, GO:0042104, GO:0032729, GO:0032715, GO:0032700, GO:0019221, GO:0007166, GO:0006955, GO:0002829, GO:0002827, negative regulation of T cell extravasation, negative regulation of T-helper 17 type immune response, interleukin-35-mediated signaling pathway, interleukin-27-mediated signaling pathway, defense response to Gram-positive bacterium, regulation of isotype switching to IgG isotypes, positive regulation of activated T cell proliferation, positive regulation of interferon-gamma production, negative regulation of interleukin-6 production, negative regulation of interleukin-17 production, cytokine-mediated signaling pathway, cell surface receptor signaling pathway, immune response, negative regulation of type 2 immune response, positive regulation of T-helper 1 type immune response, 68 52 209 155 43 168 204 53 127 ENSG00000105011 chr19 14119509 14136956 - ASF1B protein_coding This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008]. 55723 GO:0032991, GO:0005654, GO:0000785, GO:0000785, protein-containing complex, nucleoplasm, chromatin, chromatin, GO:0042393, GO:0005515, histone binding, protein binding, GO:0030154, GO:0007283, GO:0006336, GO:0006336, GO:0006335, GO:0006335, GO:0001835, cell differentiation, spermatogenesis, DNA replication-independent nucleosome assembly, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, DNA replication-dependent nucleosome assembly, blastocyst hatching, 220 295 278 82 196 151 133 232 162 ENSG00000105048 chr19 55132794 55149354 - TNNT1 protein_coding This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7138 GO:0005861, GO:0005861, GO:0005861, GO:0005829, troponin complex, troponin complex, troponin complex, cytosol, GO:0031014, GO:0005523, GO:0005523, GO:0005515, troponin T binding, tropomyosin binding, tropomyosin binding, protein binding, GO:0045932, GO:0045214, GO:0031444, GO:0030049, GO:0014883, GO:0006936, GO:0003009, negative regulation of muscle contraction, sarcomere organization, slow-twitch skeletal muscle fiber contraction, muscle filament sliding, transition between fast and slow fiber, muscle contraction, skeletal muscle contraction, 1 1 6 0 4 0 0 0 0 ENSG00000105053 chr19 49976467 50025946 - VRK3 protein_coding This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]. 51231 GO:0043231, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0019903, GO:0005524, GO:0005515, GO:0004674, protein phosphatase binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0070373, GO:0032516, GO:0018105, negative regulation of ERK1 and ERK2 cascade, positive regulation of phosphoprotein phosphatase activity, peptidyl-serine phosphorylation, 650 622 693 411 696 638 493 509 436 ENSG00000105058 chr19 16185380 16192046 + FAM32A protein_coding 26017 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0008150, GO:0007049, GO:0006915, biological_process, cell cycle, apoptotic process, 643 536 710 181 369 314 219 414 300 ENSG00000105063 chr19 55229780 55258995 - PPP6R1 protein_coding Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]. 22870 GO:0005829, GO:0005829, GO:0005829, GO:0005634, GO:0000139, cytosol, cytosol, cytosol, nucleus, Golgi membrane, GO:0031267, GO:0019903, GO:0019888, GO:0005515, small GTPase binding, protein phosphatase binding, protein phosphatase regulator activity, protein binding, GO:0048208, GO:0043666, GO:0043666, COPII vesicle coating, regulation of phosphoprotein phosphatase activity, regulation of phosphoprotein phosphatase activity, 1515 1690 1866 988 1197 1084 1051 1002 1158 ENSG00000105072 chr19 16496311 16521352 + C19orf44 protein_coding 84167 GO:0005515, protein binding, 165 226 263 188 286 222 200 167 200 ENSG00000105085 chr19 16574907 16629062 - MED26 protein_coding The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]. 9441 GO:0070847, GO:0016592, GO:0016592, GO:0005654, core mediator complex, mediator complex, mediator complex, nucleoplasm, GO:0005515, GO:0003713, GO:0003712, GO:0003712, protein binding, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, GO:1903508, GO:0010628, GO:0006367, GO:0006357, GO:0006357, positive regulation of nucleic acid-templated transcription, positive regulation of gene expression, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 137 151 112 171 193 217 133 162 108 ENSG00000105088 chr19 9853718 9936552 - OLFM2 protein_coding 93145 GO:0097060, GO:0032281, GO:0005737, GO:0005654, GO:0005634, GO:0005576, synaptic membrane, AMPA glutamate receptor complex, cytoplasm, nucleoplasm, nucleus, extracellular region, GO:0005515, protein binding, GO:1905174, GO:0051152, GO:0009306, GO:0007626, GO:0007601, regulation of vascular associated smooth muscle cell dedifferentiation, positive regulation of smooth muscle cell differentiation, protein secretion, locomotory behavior, visual perception, 5 9 9 11 6 9 5 2 5 ENSG00000105122 chr19 15451624 15464571 - RASAL3 protein_coding This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]. 64926 GO:0098562, GO:0070062, GO:0016020, GO:0005938, GO:0005829, GO:0005737, cytoplasmic side of membrane, extracellular exosome, membrane, cell cortex, cytosol, cytoplasm, GO:0042802, GO:0005515, GO:0005096, identical protein binding, protein binding, GTPase activator activity, GO:0051142, GO:0046580, GO:0043547, GO:0000165, positive regulation of NK T cell proliferation, negative regulation of Ras protein signal transduction, positive regulation of GTPase activity, MAPK cascade, 431 453 690 448 532 727 506 416 670 ENSG00000105127 chr19 15353385 15379798 - AKAP8 protein_coding This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]. 10270 GO:0016363, GO:0016363, GO:0016020, GO:0005794, GO:0005739, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0001939, GO:0000793, nuclear matrix, nuclear matrix, membrane, Golgi apparatus, mitochondrion, nucleolus, nucleoplasm, nucleus, nucleus, female pronucleus, condensed chromosome, GO:0051059, GO:0042826, GO:0034237, GO:0034237, GO:0008270, GO:0005515, GO:0003723, GO:0003690, NF-kappaB binding, histone deacetylase binding, protein kinase A regulatory subunit binding, protein kinase A regulatory subunit binding, zinc ion binding, protein binding, RNA binding, double-stranded DNA binding, GO:0071380, GO:0071222, GO:0045087, GO:0044839, GO:0033127, GO:0032720, GO:0031065, GO:0015031, GO:0007165, GO:0007076, GO:0000278, cellular response to prostaglandin E stimulus, cellular response to lipopolysaccharide, innate immune response, cell cycle G2/M phase transition, regulation of histone phosphorylation, negative regulation of tumor necrosis factor production, positive regulation of histone deacetylation, protein transport, signal transduction, mitotic chromosome condensation, mitotic cell cycle, 493 564 521 712 798 827 712 545 511 ENSG00000105131 chr19 15226919 15233435 - EPHX3 protein_coding 79852 GO:0043231, GO:0043231, GO:0031090, GO:0016021, GO:0016020, GO:0005783, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, organelle membrane, integral component of membrane, membrane, endoplasmic reticulum, GO:0016787, GO:0004301, hydrolase activity, epoxide hydrolase activity, GO:0097176, GO:0006629, epoxide metabolic process, lipid metabolic process, 1 0 1 6 0 1 0 2 3 ENSG00000105135 chr19 15114984 15125785 - ILVBL protein_coding The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]. 10994 GO:0016021, GO:0016020, GO:0005948, GO:0005789, integral component of membrane, membrane, acetolactate synthase complex, endoplasmic reticulum membrane, GO:0050660, GO:0030976, GO:0016829, GO:0005515, GO:0003984, GO:0003674, GO:0000287, flavin adenine dinucleotide binding, thiamine pyrophosphate binding, lyase activity, protein binding, acetolactate synthase activity, molecular_function, magnesium ion binding, GO:0009099, GO:0009097, GO:0001561, valine biosynthetic process, isoleucine biosynthetic process, fatty acid alpha-oxidation, 8 8 23 18 9 34 18 7 22 ENSG00000105136 chr19 57487711 57496097 + ZNF419 protein_coding 79744 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 14 21 17 51 26 34 28 14 21 ENSG00000105137 chr19 15107403 15114988 + SYDE1 protein_coding The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]. 85360 GO:0005829, cytosol, GO:0030695, GO:0030695, GO:0005096, GO:0005096, GO:0005096, GTPase regulator activity, GTPase regulator activity, GTPase activator activity, GTPase activator activity, GTPase activator activity, GO:1901165, GO:0090630, GO:0051493, GO:0051056, GO:0031532, GO:0016477, GO:0016477, GO:0007165, positive regulation of trophoblast cell migration, activation of GTPase activity, regulation of cytoskeleton organization, regulation of small GTPase mediated signal transduction, actin cytoskeleton reorganization, cell migration, cell migration, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000105141 chr19 15049384 15058293 + CASP14 protein_coding This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]. 23581 GO:0045095, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, keratin filament, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0097200, GO:0005515, GO:0004197, cysteine-type endopeptidase activity involved in execution phase of apoptosis, protein binding, cysteine-type endopeptidase activity, GO:0097194, GO:0070268, GO:0031424, GO:0008544, GO:0006508, execution phase of apoptosis, cornification, keratinization, epidermis development, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000105143 chr19 14950034 15022990 - SLC1A6 protein_coding 6511 GO:0099056, GO:0098978, GO:0098796, GO:0045111, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005794, integral component of presynaptic membrane, glutamatergic synapse, membrane protein complex, intermediate filament cytoskeleton, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0046872, GO:0015183, GO:0005314, metal ion binding, L-aspartate transmembrane transporter activity, high-affinity glutamate transmembrane transporter activity, GO:0098712, GO:0070778, GO:0042391, GO:0015813, GO:0015810, GO:0014047, GO:0007268, GO:0006811, GO:0001504, L-glutamate import across plasma membrane, L-aspartate transmembrane transport, regulation of membrane potential, L-glutamate transmembrane transport, aspartate transmembrane transport, glutamate secretion, chemical synaptic transmission, ion transport, neurotransmitter uptake, 0 0 0 1 0 0 0 0 0 ENSG00000105146 chr19 57230802 57235548 + AURKC protein_coding This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 6795 GO:0051233, GO:0051233, GO:0032133, GO:0032133, GO:0031616, GO:0030496, GO:0030496, GO:0005876, GO:0005819, GO:0005737, GO:0000793, GO:0000779, spindle midzone, spindle midzone, chromosome passenger complex, chromosome passenger complex, spindle pole centrosome, midbody, midbody, spindle microtubule, spindle, cytoplasm, condensed chromosome, condensed chromosome, centromeric region, GO:0106311, GO:0106310, GO:0035174, GO:0005524, GO:0005515, GO:0004712, GO:0004672, protein threonine kinase activity, protein serine kinase activity, histone serine kinase activity, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, protein kinase activity, GO:0051321, GO:0051301, GO:0051256, GO:0048599, GO:0035404, GO:0032467, GO:0032465, GO:0016570, GO:0008608, GO:0007283, GO:0007052, GO:0006468, meiotic cell cycle, cell division, mitotic spindle midzone assembly, oocyte development, histone-serine phosphorylation, positive regulation of cytokinesis, regulation of cytokinesis, histone modification, attachment of spindle microtubules to kinetochore, spermatogenesis, mitotic spindle organization, protein phosphorylation, 2 2 2 9 10 7 8 5 7 ENSG00000105171 chr19 29604017 29617237 + POP4 protein_coding This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. 10775 GO:0030681, GO:0030677, GO:0005730, GO:0005654, GO:0000172, multimeric ribonuclease P complex, ribonuclease P complex, nucleolus, nucleoplasm, ribonuclease MRP complex, GO:0033204, GO:0033204, GO:0005515, GO:0004526, GO:0004526, GO:0000171, ribonuclease P RNA binding, ribonuclease P RNA binding, protein binding, ribonuclease P activity, ribonuclease P activity, ribonuclease MRP activity, GO:0090502, GO:0006364, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, rRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, 123 152 187 98 130 130 108 88 88 ENSG00000105173 chr19 29811898 29824308 + CCNE1 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]. 898 GO:0097134, GO:0097134, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000307, cyclin E1-CDK2 complex, cyclin E1-CDK2 complex, cytosol, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0019901, GO:0016538, GO:0016301, GO:0005515, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, kinase activity, protein binding, GO:1903827, GO:1902462, GO:0051301, GO:0044772, GO:0016055, GO:0007129, GO:0006468, GO:0006270, GO:0000723, GO:0000122, GO:0000083, GO:0000082, GO:0000082, GO:0000082, GO:0000082, GO:0000079, regulation of cellular protein localization, positive regulation of mesenchymal stem cell proliferation, cell division, mitotic cell cycle phase transition, Wnt signaling pathway, homologous chromosome pairing at meiosis, protein phosphorylation, DNA replication initiation, telomere maintenance, negative regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 2 3 4 12 13 12 13 9 15 ENSG00000105176 chr19 29923644 30016608 + URI1 protein_coding This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011]. 8725 GO:0030425, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, dendrite, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0051219, GO:0019212, GO:0005515, GO:0004864, GO:0003714, GO:0003714, GO:0003714, GO:0003682, GO:0003682, GO:0000993, phosphoprotein binding, phosphatase inhibitor activity, protein binding, protein phosphatase inhibitor activity, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, chromatin binding, chromatin binding, RNA polymerase II complex binding, GO:2001243, GO:0071383, GO:0071363, GO:0032515, GO:0010923, GO:0010923, GO:0009615, GO:0006357, GO:0001558, GO:0000122, GO:0000122, negative regulation of intrinsic apoptotic signaling pathway, cellular response to steroid hormone stimulus, cellular response to growth factor stimulus, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, negative regulation of phosphatase activity, response to virus, regulation of transcription by RNA polymerase II, regulation of cell growth, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 58 39 84 200 93 201 169 80 134 ENSG00000105185 chr19 32581068 32587452 + PDCD5 protein_coding This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]. 9141 GO:0070062, GO:0005829, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, cytosol, cytoplasm, nucleus, nucleus, GO:0048487, GO:0010698, GO:0008201, GO:0005515, GO:0003677, beta-tubulin binding, acetyltransferase activator activity, heparin binding, protein binding, DNA binding, GO:1903645, GO:1903638, GO:0090200, GO:0071560, GO:0043280, GO:0043065, GO:0010628, GO:0008285, GO:0006915, negative regulation of chaperone-mediated protein folding, positive regulation of protein insertion into mitochondrial outer membrane, positive regulation of release of cytochrome c from mitochondria, cellular response to transforming growth factor beta stimulus, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, positive regulation of gene expression, negative regulation of cell population proliferation, apoptotic process, 21 18 39 30 15 36 51 13 64 ENSG00000105186 chr19 32597007 32676597 - ANKRD27 protein_coding 84079 GO:0097422, GO:0097422, GO:0043005, GO:0042470, GO:0030659, GO:0030133, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005770, GO:0005770, GO:0005769, GO:0005769, GO:0005764, tubular endosome, tubular endosome, neuron projection, melanosome, cytoplasmic vesicle membrane, transport vesicle, membrane, plasma membrane, plasma membrane, cytosol, late endosome, late endosome, early endosome, early endosome, lysosome, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005085, GO:0005085, GO:0000149, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, SNARE binding, GO:1990126, GO:1990126, GO:0050775, GO:0048812, GO:0045022, GO:0045022, GO:0043547, GO:0035646, GO:0035544, GO:0015031, retrograde transport, endosome to plasma membrane, retrograde transport, endosome to plasma membrane, positive regulation of dendrite morphogenesis, neuron projection morphogenesis, early endosome to late endosome transport, early endosome to late endosome transport, positive regulation of GTPase activity, endosome to melanosome transport, negative regulation of SNARE complex assembly, protein transport, 158 196 266 134 159 186 126 114 159 ENSG00000105193 chr19 39433207 39435948 - RPS16 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6217 GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0015935, GO:0005925, GO:0005829, GO:0005654, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, small ribosomal subunit, focal adhesion, cytosol, nucleoplasm, GO:0005515, GO:0003735, GO:0003723, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, RNA binding, RNA binding, GO:0042274, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0006364, GO:0000462, GO:0000184, ribosomal small subunit biogenesis, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 743 586 1109 1859 966 1921 1153 975 1447 ENSG00000105197 chr19 39480412 39493785 + TIMM50 protein_coding This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]. 92609 GO:0016607, GO:0016021, GO:0005744, GO:0005744, GO:0005743, GO:0005739, GO:0005654, nuclear speck, integral component of membrane, TIM23 mitochondrial import inner membrane translocase complex, TIM23 mitochondrial import inner membrane translocase complex, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0043021, GO:0005515, GO:0005134, GO:0004725, GO:0004722, GO:0004721, GO:0004721, GO:0003723, ribonucleoprotein complex binding, protein binding, interleukin-2 receptor binding, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, phosphoprotein phosphatase activity, RNA binding, GO:0035335, GO:0030150, GO:0007006, GO:0006470, GO:0001836, peptidyl-tyrosine dephosphorylation, protein import into mitochondrial matrix, mitochondrial membrane organization, protein dephosphorylation, release of cytochrome c from mitochondria, 20 31 38 54 35 56 39 19 45 ENSG00000105198 chr19 39602501 39607476 + LGALS13 protein_coding Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008]. 29124 GO:0016363, GO:0005737, nuclear matrix, cytoplasm, GO:0030246, GO:0005515, GO:0004622, carbohydrate binding, protein binding, lysophospholipase activity, GO:0070234, GO:0006915, GO:0006644, positive regulation of T cell apoptotic process, apoptotic process, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000105202 chr19 39834458 39846414 - FBL protein_coding This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]. 2091 GO:0070062, GO:0032040, GO:0031428, GO:0031428, GO:0016020, GO:0015030, GO:0015030, GO:0005730, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0001652, GO:0001650, extracellular exosome, small-subunit processome, box C/D snoRNP complex, box C/D snoRNP complex, membrane, Cajal body, Cajal body, nucleolus, chromosome, nucleoplasm, nucleoplasm, nucleus, granular component, fibrillar center, GO:1990259, GO:1990259, GO:0051117, GO:0008649, GO:0005515, GO:0003723, GO:0003723, GO:0001094, histone-glutamine methyltransferase activity, histone-glutamine methyltransferase activity, ATPase binding, rRNA methyltransferase activity, protein binding, RNA binding, RNA binding, TFIID-class transcription factor complex binding, GO:1990258, GO:1990258, GO:0048254, GO:0031167, GO:0031167, GO:0006364, GO:0001649, GO:0000494, histone glutamine methylation, histone glutamine methylation, snoRNA localization, rRNA methylation, rRNA methylation, rRNA processing, osteoblast differentiation, box C/D snoRNA 3'-end processing, 73 41 140 247 120 396 185 89 237 ENSG00000105204 chr19 39825350 39834201 - DYRK1B protein_coding This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 9149 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, GO:0004672, GO:0003713, GO:0003713, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein kinase activity, transcription coactivator activity, transcription coactivator activity, GO:0060612, GO:0046777, GO:0045893, GO:0045893, GO:0018108, GO:0018107, GO:0018105, GO:0006468, adipose tissue development, protein autophosphorylation, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, protein phosphorylation, 91 119 147 159 225 156 156 166 174 ENSG00000105205 chr19 39731250 39738028 - CLC protein_coding Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008]. 1178 GO:0062023, GO:0005829, collagen-containing extracellular matrix, cytosol, GO:0097153, GO:0042802, GO:0030246, GO:0005515, GO:0004622, cysteine-type endopeptidase activity involved in apoptotic process, identical protein binding, carbohydrate binding, protein binding, lysophospholipase activity, GO:0070231, GO:0046006, GO:0007275, GO:0002724, GO:0002667, T cell apoptotic process, regulation of activated T cell proliferation, multicellular organism development, regulation of T cell cytokine production, regulation of T cell anergy, 377 760 996 27 63 28 29 26 23 ENSG00000105219 chr19 40222208 40226697 - CNTD2 protein_coding 79935 GO:0097124, GO:0005737, GO:0005634, GO:0005634, GO:0000307, cyclin A2-CDK2 complex, cytoplasm, nucleus, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, cyclin-dependent protein serine/threonine kinase regulator activity, GO:0044772, GO:0000079, mitotic cell cycle phase transition, regulation of cyclin-dependent protein serine/threonine kinase activity, 4 0 0 1 4 0 8 2 0 ENSG00000105220 chr19 34359480 34402413 + GPI protein_coding This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. 2821 GO:1904813, GO:0070062, GO:0034774, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, membrane, plasma membrane, cytosol, cytosol, cytosol, nucleoplasm, extracellular region, GO:0048029, GO:0031625, GO:0008083, GO:0005515, GO:0005125, GO:0004347, GO:0004347, monosaccharide binding, ubiquitin protein ligase binding, growth factor activity, protein binding, cytokine activity, glucose-6-phosphate isomerase activity, glucose-6-phosphate isomerase activity, GO:0061621, GO:0051156, GO:0051156, GO:0043312, GO:0010595, GO:0007599, GO:0007165, GO:0006959, GO:0006096, GO:0006094, GO:0006094, GO:0005975, GO:0002639, canonical glycolysis, glucose 6-phosphate metabolic process, glucose 6-phosphate metabolic process, neutrophil degranulation, positive regulation of endothelial cell migration, hemostasis, signal transduction, humoral immune response, glycolytic process, gluconeogenesis, gluconeogenesis, carbohydrate metabolic process, positive regulation of immunoglobulin production, 57 77 148 148 46 145 119 50 117 ENSG00000105221 chr19 40230317 40285536 - AKT2 protein_coding This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]. 208 GO:0043231, GO:0032991, GO:0032587, GO:0005938, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005769, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, protein-containing complex, ruffle membrane, cell cortex, plasma membrane, plasma membrane, cytosol, cytosol, early endosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000147, GO:0097473, GO:0090630, GO:0090314, GO:0072659, GO:0071486, GO:0071156, GO:0065002, GO:0060644, GO:0046326, GO:0045725, GO:0045444, GO:0043066, GO:0035556, GO:0032869, GO:0032287, GO:0032000, GO:0031340, GO:0030335, GO:0030334, GO:0018105, GO:0010918, GO:0010907, GO:0010748, GO:0008643, GO:0008286, GO:0008286, GO:0008284, GO:0007165, GO:0006464, GO:0006417, GO:0006006, GO:0005978, GO:0001934, positive regulation of cell motility, retinal rod cell apoptotic process, activation of GTPase activity, positive regulation of protein targeting to membrane, protein localization to plasma membrane, cellular response to high light intensity, regulation of cell cycle arrest, intracellular protein transmembrane transport, mammary gland epithelial cell differentiation, positive regulation of glucose import, positive regulation of glycogen biosynthetic process, fat cell differentiation, negative regulation of apoptotic process, intracellular signal transduction, cellular response to insulin stimulus, peripheral nervous system myelin maintenance, positive regulation of fatty acid beta-oxidation, positive regulation of vesicle fusion, positive regulation of cell migration, regulation of cell migration, peptidyl-serine phosphorylation, positive regulation of mitochondrial membrane potential, positive regulation of glucose metabolic process, negative regulation of long-chain fatty acid import across plasma membrane, carbohydrate transport, insulin receptor signaling pathway, insulin receptor signaling pathway, positive regulation of cell population proliferation, signal transduction, cellular protein modification process, regulation of translation, glucose metabolic process, glycogen biosynthetic process, positive regulation of protein phosphorylation, 1469 1585 1649 894 1130 1037 963 964 919 ENSG00000105223 chr19 40348456 40380439 + PLD3 protein_coding This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]. 23646 GO:0070062, GO:0043202, GO:0031902, GO:0031901, GO:0016021, GO:0005789, GO:0005765, GO:0000139, extracellular exosome, lysosomal lumen, late endosome membrane, early endosome membrane, integral component of membrane, endoplasmic reticulum membrane, lysosomal membrane, Golgi membrane, GO:0045145, GO:0005515, GO:0004630, single-stranded DNA 5'-3' exodeoxyribonuclease activity, protein binding, phospholipase D activity, GO:1900015, GO:0090305, GO:0014902, GO:0006954, GO:0006259, GO:0002376, regulation of cytokine production involved in inflammatory response, nucleic acid phosphodiester bond hydrolysis, myotube differentiation, inflammatory response, DNA metabolic process, immune system process, 121 217 172 104 142 128 69 122 73 ENSG00000105227 chr19 40393768 40413366 - PRX protein_coding This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]. 57716 GO:0030054, GO:0005886, GO:0005737, GO:0005737, GO:0005634, GO:0005634, cell junction, plasma membrane, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0043484, GO:0032287, GO:0008366, regulation of RNA splicing, peripheral nervous system myelin maintenance, axon ensheathment, 3 3 4 9 10 34 10 12 11 ENSG00000105229 chr19 4007646 4039386 + PIAS4 protein_coding 51588 GO:1990234, GO:0016605, GO:0016363, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, transferase complex, PML body, nuclear matrix, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0061665, GO:0061665, GO:0031625, GO:0019789, GO:0019789, GO:0019789, GO:0008270, GO:0008022, GO:0005515, GO:0003714, GO:0003712, GO:0003677, GO:0001085, SUMO ligase activity, SUMO ligase activity, ubiquitin protein ligase binding, SUMO transferase activity, SUMO transferase activity, SUMO transferase activity, zinc ion binding, protein C-terminus binding, protein binding, transcription corepressor activity, transcription coregulator activity, DNA binding, RNA polymerase II transcription factor binding, GO:1902231, GO:1902174, GO:0045892, GO:0045892, GO:0042359, GO:0033235, GO:0032088, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016055, GO:0010804, GO:0006357, GO:0006303, GO:0000122, positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of keratinocyte apoptotic process, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, vitamin D metabolic process, positive regulation of protein sumoylation, negative regulation of NF-kappaB transcription factor activity, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, Wnt signaling pathway, negative regulation of tumor necrosis factor-mediated signaling pathway, regulation of transcription by RNA polymerase II, double-strand break repair via nonhomologous end joining, negative regulation of transcription by RNA polymerase II, 271 257 283 222 227 253 203 186 192 ENSG00000105245 chr19 40665905 40690972 - NUMBL protein_coding 9253 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0050769, GO:0034332, GO:0021849, GO:0021670, GO:0019538, GO:0019221, GO:0007409, GO:0007399, positive regulation of neurogenesis, adherens junction organization, neuroblast division in subventricular zone, lateral ventricle development, protein metabolic process, cytokine-mediated signaling pathway, axonogenesis, nervous system development, 35 34 34 38 36 62 46 38 48 ENSG00000105246 chr19 4229498 4237531 + EBI3 protein_coding This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008]. 10148 GO:0043235, GO:0009897, GO:0005886, GO:0005788, GO:0005615, GO:0005576, receptor complex, external side of plasma membrane, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0045523, GO:0019955, GO:0017046, GO:0005515, GO:0005125, GO:0004896, GO:0004896, interleukin-27 receptor binding, cytokine binding, peptide hormone binding, protein binding, cytokine activity, cytokine receptor activity, cytokine receptor activity, GO:0070757, GO:0070106, GO:0046641, GO:0042098, GO:0042088, GO:0033210, GO:0032729, GO:0019221, GO:0006959, interleukin-35-mediated signaling pathway, interleukin-27-mediated signaling pathway, positive regulation of alpha-beta T cell proliferation, T cell proliferation, T-helper 1 type immune response, leptin-mediated signaling pathway, positive regulation of interferon-gamma production, cytokine-mediated signaling pathway, humoral immune response, 0 0 0 0 0 0 0 0 0 ENSG00000105248 chr19 4247079 4269090 + YJU2 protein_coding 55702 GO:0071006, GO:0071006, U2-type catalytic step 1 spliceosome, U2-type catalytic step 1 spliceosome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0043518, GO:0008380, GO:0000398, negative regulation of DNA damage response, signal transduction by p53 class mediator, RNA splicing, mRNA splicing, via spliceosome, 93 96 105 74 62 138 78 67 100 ENSG00000105251 chr19 4278601 4290724 + SHD protein_coding 56961 GO:0005515, GO:0001784, protein binding, phosphotyrosine residue binding, 0 0 0 0 0 0 1 0 0 ENSG00000105254 chr19 36114289 36125947 + TBCB protein_coding 1155 GO:0015630, GO:0005874, GO:0005829, GO:0005737, microtubule cytoskeleton, microtubule, cytosol, cytoplasm, GO:0005515, protein binding, GO:0030154, GO:0007399, cell differentiation, nervous system development, 163 151 184 239 196 286 180 159 230 ENSG00000105255 chr19 4304600 4323843 + FSD1 protein_coding This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]. 79187 GO:0032154, GO:0005874, GO:0005813, GO:0005737, GO:0005634, cleavage furrow, microtubule, centrosome, cytoplasm, nucleus, GO:0042802, GO:0008017, identical protein binding, microtubule binding, GO:0060236, GO:0051302, GO:0051301, GO:0032465, GO:0031122, GO:0007049, regulation of mitotic spindle organization, regulation of cell division, cell division, regulation of cytokinesis, cytoplasmic microtubule organization, cell cycle, 0 2 1 6 0 8 0 2 0 ENSG00000105258 chr19 36113710 36115346 - POLR2I protein_coding This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]. 5438 GO:0005730, GO:0005665, GO:0005665, GO:0005654, GO:0005654, GO:0005634, nucleolus, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003899, GO:0003676, zinc ion binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, nucleic acid binding, GO:0060964, GO:0050434, GO:0042795, GO:0035019, GO:0016070, GO:0008543, GO:0006379, GO:0006370, GO:0006368, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006351, GO:0006283, GO:0006283, GO:0001193, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, RNA metabolic process, fibroblast growth factor receptor signaling pathway, mRNA cleavage, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter, mRNA splicing, via spliceosome, 25 16 13 26 22 29 20 21 29 ENSG00000105261 chr19 36111151 36113711 + OVOL3 protein_coding 728361 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0000981, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0009913, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, epidermal cell differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000105270 chr19 36014660 36033343 - CLIP3 protein_coding This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]. 25999 GO:0055038, GO:0045121, GO:0035371, GO:0032588, GO:0032588, GO:0031901, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005795, GO:0005737, GO:0005634, recycling endosome membrane, membrane raft, microtubule plus-end, trans-Golgi network membrane, trans-Golgi network membrane, early endosome membrane, plasma membrane, plasma membrane, cytosol, trans-Golgi network, Golgi stack, cytoplasm, nucleus, GO:0051010, GO:0035594, GO:0008017, GO:0008017, GO:0005515, microtubule plus-end binding, ganglioside binding, microtubule binding, microtubule binding, protein binding, GO:1903078, GO:0072321, GO:0045807, GO:0045444, GO:0044091, GO:0043065, GO:0031122, GO:0031115, GO:0018230, GO:0010828, GO:0010803, GO:0001934, positive regulation of protein localization to plasma membrane, chaperone-mediated protein transport, positive regulation of endocytosis, fat cell differentiation, membrane biogenesis, positive regulation of apoptotic process, cytoplasmic microtubule organization, negative regulation of microtubule polymerization, peptidyl-L-cysteine S-palmitoylation, positive regulation of glucose transmembrane transport, regulation of tumor necrosis factor-mediated signaling pathway, positive regulation of protein phosphorylation, 4 10 9 12 19 3 34 11 16 ENSG00000105278 chr19 3804024 3869032 - ZFR2 protein_coding 23217 GO:0008270, GO:0003727, GO:0003725, zinc ion binding, single-stranded RNA binding, double-stranded RNA binding, 0 0 4 2 2 0 1 0 0 ENSG00000105281 chr19 46774883 46788594 - SLC1A5 protein_coding The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]. 6510 GO:0070062, GO:0042470, GO:0016021, GO:0016020, GO:0009925, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, melanosome, integral component of membrane, membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0046872, GO:0038023, GO:0015293, GO:0015194, GO:0015186, GO:0015186, GO:0015183, GO:0015175, GO:0015171, GO:0005515, GO:0001618, metal ion binding, signaling receptor activity, symporter activity, L-serine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-aspartate transmembrane transporter activity, neutral amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, virus receptor activity, GO:1903803, GO:0150104, GO:0150104, GO:0140009, GO:0070207, GO:0046718, GO:0015825, GO:0015804, GO:0010585, GO:0006868, GO:0006868, GO:0006865, L-glutamine import across plasma membrane, transport across blood-brain barrier, transport across blood-brain barrier, L-aspartate import across plasma membrane, protein homotrimerization, viral entry into host cell, L-serine transport, neutral amino acid transport, glutamine secretion, glutamine transport, glutamine transport, amino acid transport, 25 37 121 139 33 99 116 26 64 ENSG00000105287 chr19 46674275 46717127 - PRKD2 protein_coding The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 25865 GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005634, plasma membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005524, GO:0005515, GO:0005080, GO:0004698, GO:0004674, GO:0004674, GO:0004674, GO:0004672, metal ion binding, ATP binding, protein binding, protein kinase C binding, calcium-dependent protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2001028, GO:2000573, GO:1902533, GO:1901727, GO:0089700, GO:0089700, GO:0070374, GO:0061154, GO:0051092, GO:0051091, GO:0050862, GO:0050852, GO:0048010, GO:0046777, GO:0046777, GO:0045944, GO:0045944, GO:0045785, GO:0045766, GO:0045766, GO:0045743, GO:0043536, GO:0043536, GO:0038033, GO:0038033, GO:0035924, GO:0035924, GO:0035556, GO:0033138, GO:0032793, GO:0032757, GO:0032743, GO:0030949, GO:0030148, GO:0018107, GO:0018105, GO:0018105, GO:0010595, GO:0008219, GO:0007155, GO:0006468, GO:0006468, GO:0002250, GO:0001938, GO:0001938, GO:0001525, positive regulation of endothelial cell chemotaxis, positive regulation of DNA biosynthetic process, positive regulation of intracellular signal transduction, positive regulation of histone deacetylase activity, protein kinase D signaling, protein kinase D signaling, positive regulation of ERK1 and ERK2 cascade, endothelial tube morphogenesis, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, protein autophosphorylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of cell adhesion, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of fibroblast growth factor receptor signaling pathway, positive regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway, positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway, cellular response to vascular endothelial growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, intracellular signal transduction, positive regulation of peptidyl-serine phosphorylation, positive regulation of CREB transcription factor activity, positive regulation of interleukin-8 production, positive regulation of interleukin-2 production, positive regulation of vascular endothelial growth factor receptor signaling pathway, sphingolipid biosynthetic process, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, positive regulation of endothelial cell migration, cell death, cell adhesion, protein phosphorylation, protein phosphorylation, adaptive immune response, positive regulation of endothelial cell proliferation, positive regulation of endothelial cell proliferation, angiogenesis, 3566 3791 4586 1831 2377 2575 2219 1984 2195 ENSG00000105289 chr19 3708109 3750813 + TJP3 protein_coding The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]. 27134 GO:0030054, GO:0005923, GO:0005923, GO:0005886, GO:0005886, GO:0005654, GO:0005634, cell junction, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, nucleoplasm, nucleus, GO:0050839, GO:0005515, cell adhesion molecule binding, protein binding, GO:1905605, GO:0150105, GO:0098609, GO:0090557, GO:0045216, GO:0035633, positive regulation of blood-brain barrier permeability, protein localization to cell-cell junction, cell-cell adhesion, establishment of endothelial intestinal barrier, cell-cell junction organization, maintenance of blood-brain barrier, 2 6 5 25 2 7 17 4 6 ENSG00000105290 chr19 35867899 35879791 + APLP1 protein_coding This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 333 GO:0048471, GO:0016021, GO:0005886, GO:0005604, perinuclear region of cytoplasm, integral component of membrane, plasma membrane, basement membrane, GO:0046914, GO:0042802, GO:0031696, GO:0031695, GO:0031694, GO:0008201, GO:0005515, transition metal ion binding, identical protein binding, alpha-2C adrenergic receptor binding, alpha-2B adrenergic receptor binding, alpha-2A adrenergic receptor binding, heparin binding, protein binding, GO:0106072, GO:0071874, GO:0009887, GO:0007399, GO:0007155, GO:0006915, GO:0006897, negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, cellular response to norepinephrine stimulus, animal organ morphogenesis, nervous system development, cell adhesion, apoptotic process, endocytosis, 2 2 7 18 38 89 23 19 77 ENSG00000105298 chr19 3610641 3626815 - CACTIN protein_coding 58509 GO:0071013, GO:0016607, GO:0005829, GO:0005737, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, nuclear speck, cytosol, cytoplasm, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0071356, GO:0071347, GO:0071222, GO:0060339, GO:0045824, GO:0045292, GO:0045087, GO:0043124, GO:0034122, GO:0032720, GO:0032717, GO:0032688, GO:0032088, GO:0031665, GO:0010468, GO:0007275, GO:0001933, GO:0000398, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to lipopolysaccharide, negative regulation of type I interferon-mediated signaling pathway, negative regulation of innate immune response, mRNA cis splicing, via spliceosome, innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of toll-like receptor signaling pathway, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interferon-beta production, negative regulation of NF-kappaB transcription factor activity, negative regulation of lipopolysaccharide-mediated signaling pathway, regulation of gene expression, multicellular organism development, negative regulation of protein phosphorylation, mRNA splicing, via spliceosome, 148 186 146 182 188 164 198 145 113 ENSG00000105321 chr19 47255980 47273701 + CCDC9 protein_coding 26093 GO:0005515, GO:0003723, protein binding, RNA binding, 1636 2011 1915 1252 1805 1526 1161 1447 1119 ENSG00000105323 chr19 41262496 41307598 + HNRNPUL1 protein_coding This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]. 11100 GO:0005654, GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0019899, GO:0005515, GO:0003723, GO:0003723, enzyme binding, protein binding, RNA binding, RNA binding, GO:0009615, GO:0006396, GO:0000398, response to virus, RNA processing, mRNA splicing, via spliceosome, 2673 2913 3221 1341 2027 1829 1443 1653 1412 ENSG00000105325 chr19 3506273 3538330 + FZR1 protein_coding 51343 GO:0031965, GO:0005829, GO:0005680, GO:0005654, GO:0005654, nuclear membrane, cytosol, anaphase-promoting complex, nucleoplasm, nucleoplasm, GO:1990757, GO:0010997, GO:0005515, ubiquitin ligase activator activity, anaphase-promoting complex binding, protein binding, GO:1905786, GO:1904668, GO:1901990, GO:0090344, GO:0072425, GO:0070979, GO:0070306, GO:0051301, GO:0045732, GO:0040020, GO:0031145, GO:0031145, GO:0031145, GO:0008284, GO:0007049, GO:0006511, GO:0006281, positive regulation of anaphase-promoting complex-dependent catabolic process, positive regulation of ubiquitin protein ligase activity, regulation of mitotic cell cycle phase transition, negative regulation of cell aging, signal transduction involved in G2 DNA damage checkpoint, protein K11-linked ubiquitination, lens fiber cell differentiation, cell division, positive regulation of protein catabolic process, regulation of meiotic nuclear division, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, positive regulation of cell population proliferation, cell cycle, ubiquitin-dependent protein catabolic process, DNA repair, 766 910 1070 553 639 556 529 593 425 ENSG00000105327 chr19 47220822 47232766 - BBC3 protein_coding This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]. 27113 GO:0005764, GO:0005739, GO:0005739, lysosome, mitochondrion, mitochondrion, GO:0051117, GO:0005515, ATPase binding, protein binding, GO:2001244, GO:1900740, GO:0097194, GO:0090200, GO:0070059, GO:0006919, GO:0006915, GO:0001836, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, execution phase of apoptosis, positive regulation of release of cytochrome c from mitochondria, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, release of cytochrome c from mitochondria, 355 627 855 142 233 234 156 204 266 ENSG00000105329 chr19 41301587 41353911 - TGFB1 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]. 7040 GO:0072562, GO:0062023, GO:0031093, GO:0031012, GO:0009986, GO:0005902, GO:0005886, GO:0005796, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, blood microparticle, collagen-containing extracellular matrix, platelet alpha granule lumen, extracellular matrix, cell surface, microvillus, plasma membrane, Golgi lumen, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0034714, GO:0034714, GO:0034714, GO:0034713, GO:0034713, GO:0019899, GO:0008083, GO:0005515, GO:0005125, GO:0005125, GO:0005114, GO:0005114, GO:0005114, GO:0005114, GO:0003823, identical protein binding, type III transforming growth factor beta receptor binding, type III transforming growth factor beta receptor binding, type III transforming growth factor beta receptor binding, type I transforming growth factor beta receptor binding, type I transforming growth factor beta receptor binding, enzyme binding, growth factor activity, protein binding, cytokine activity, cytokine activity, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, antigen binding, GO:2000727, GO:2000679, GO:1990402, GO:1905313, GO:1905005, GO:1903800, GO:1903799, GO:1903077, GO:1902895, GO:1902893, GO:1901666, GO:1901203, GO:1900182, GO:1900126, GO:0097191, GO:0090263, GO:0085029, GO:0071560, GO:0071560, GO:0071407, GO:0070723, GO:0070374, GO:0070168, GO:0060965, GO:0060395, GO:0060391, GO:0060390, GO:0060389, GO:0060312, GO:0060312, GO:0055010, GO:0051897, GO:0051781, GO:0051101, GO:0051098, GO:0050921, GO:0050900, GO:0050731, GO:0050714, GO:0050680, GO:0050680, GO:0048642, GO:0048535, GO:0048298, GO:0045944, GO:0045930, GO:0045918, GO:0045893, GO:0045893, GO:0045892, GO:0045786, GO:0045662, GO:0045599, GO:0045596, GO:0045216, GO:0043932, GO:0043552, GO:0043537, GO:0043536, GO:0043491, GO:0043406, GO:0043117, GO:0042307, GO:0042306, GO:0042127, GO:0035307, GO:0033138, GO:0032967, GO:0032967, GO:0032967, GO:0032930, GO:0032801, GO:0032740, GO:0032570, GO:0032355, GO:0032270, GO:0031663, GO:0031334, GO:0031293, GO:0030512, GO:0030509, GO:0030501, GO:0030335, GO:0030335, GO:0030334, GO:0030308, GO:0030214, GO:0022408, GO:0021915, GO:0019221, GO:0017015, GO:0016477, GO:0016202, GO:0014008, GO:0010936, GO:0010862, GO:0010862, GO:0010800, GO:0010763, GO:0010742, GO:0010718, GO:0010718, GO:0010716, GO:0010629, GO:0010629, GO:0010629, GO:0010628, GO:0010628, GO:0010628, GO:0010628, GO:0010575, GO:0009611, GO:0008285, GO:0008285, GO:0008284, GO:0008284, GO:0007507, GO:0007435, GO:0007183, GO:0007182, GO:0007179, GO:0007179, GO:0007179, GO:0007173, GO:0007093, GO:0007050, GO:0006954, GO:0006796, GO:0006754, GO:0006611, GO:0006468, GO:0003180, GO:0003179, GO:0002576, GO:0002248, GO:0002244, GO:0002062, GO:0001934, GO:0001933, GO:0001843, GO:0001837, GO:0001570, GO:0000165, positive regulation of cardiac muscle cell differentiation, positive regulation of transcription regulatory region DNA binding, embryonic liver development, transforming growth factor beta receptor signaling pathway involved in heart development, regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, positive regulation of production of miRNAs involved in gene silencing by miRNA, negative regulation of production of miRNAs involved in gene silencing by miRNA, negative regulation of protein localization to plasma membrane, positive regulation of pri-miRNA transcription by RNA polymerase II, regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of NAD+ ADP-ribosyltransferase activity, positive regulation of extracellular matrix assembly, positive regulation of protein localization to nucleus, negative regulation of hyaluronan biosynthetic process, extrinsic apoptotic signaling pathway, positive regulation of canonical Wnt signaling pathway, extracellular matrix assembly, cellular response to transforming growth factor beta stimulus, cellular response to transforming growth factor beta stimulus, cellular response to organic cyclic compound, response to cholesterol, positive regulation of ERK1 and ERK2 cascade, negative regulation of biomineral tissue development, negative regulation of gene silencing by miRNA, SMAD protein signal transduction, positive regulation of SMAD protein signal transduction, regulation of SMAD protein signal transduction, pathway-restricted SMAD protein phosphorylation, regulation of blood vessel remodeling, regulation of blood vessel remodeling, ventricular cardiac muscle tissue morphogenesis, positive regulation of protein kinase B signaling, positive regulation of cell division, regulation of DNA binding, regulation of binding, positive regulation of chemotaxis, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of protein secretion, negative regulation of epithelial cell proliferation, negative regulation of epithelial cell proliferation, negative regulation of skeletal muscle tissue development, lymph node development, positive regulation of isotype switching to IgA isotypes, positive regulation of transcription by RNA polymerase II, negative regulation of mitotic cell cycle, negative regulation of cytolysis, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of cell cycle, negative regulation of myoblast differentiation, negative regulation of fat cell differentiation, negative regulation of cell differentiation, cell-cell junction organization, ossification involved in bone remodeling, positive regulation of phosphatidylinositol 3-kinase activity, negative regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, protein kinase B signaling, positive regulation of MAP kinase activity, positive regulation of vascular permeability, positive regulation of protein import into nucleus, regulation of protein import into nucleus, regulation of cell population proliferation, positive regulation of protein dephosphorylation, positive regulation of peptidyl-serine phosphorylation, positive regulation of collagen biosynthetic process, positive regulation of collagen biosynthetic process, positive regulation of collagen biosynthetic process, positive regulation of superoxide anion generation, receptor catabolic process, positive regulation of interleukin-17 production, response to progesterone, response to estradiol, positive regulation of cellular protein metabolic process, lipopolysaccharide-mediated signaling pathway, positive regulation of protein-containing complex assembly, membrane protein intracellular domain proteolysis, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, positive regulation of cell migration, positive regulation of cell migration, regulation of cell migration, negative regulation of cell growth, hyaluronan catabolic process, negative regulation of cell-cell adhesion, neural tube development, cytokine-mediated signaling pathway, regulation of transforming growth factor beta receptor signaling pathway, cell migration, regulation of striated muscle tissue development, positive regulation of microglia differentiation, negative regulation of macrophage cytokine production, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of peptidyl-threonine phosphorylation, positive regulation of fibroblast migration, macrophage derived foam cell differentiation, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial to mesenchymal transition, negative regulation of extracellular matrix disassembly, negative regulation of gene expression, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of vascular endothelial growth factor production, response to wounding, negative regulation of cell population proliferation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, heart development, salivary gland morphogenesis, SMAD protein complex assembly, common-partner SMAD protein phosphorylation, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, epidermal growth factor receptor signaling pathway, mitotic cell cycle checkpoint, cell cycle arrest, inflammatory response, phosphate-containing compound metabolic process, ATP biosynthetic process, protein export from nucleus, protein phosphorylation, aortic valve morphogenesis, heart valve morphogenesis, platelet degranulation, connective tissue replacement involved in inflammatory response wound healing, hematopoietic progenitor cell differentiation, chondrocyte differentiation, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, neural tube closure, epithelial to mesenchymal transition, vasculogenesis, MAPK cascade, 3983 3942 5837 1801 2604 2554 2197 2417 2597 ENSG00000105339 chr8 141117278 141195808 + DENND3 protein_coding 22898 GO:0031410, GO:0005829, cytoplasmic vesicle, cytosol, GO:0005085, GO:0005085, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0044257, GO:0032483, GO:0008333, cellular protein catabolic process, regulation of Rab protein signal transduction, endosome to lysosome transport, 10367 11553 13399 9774 14700 13707 11119 10470 11529 ENSG00000105341 chr19 41431318 41440717 - DMAC2 protein_coding 55101 GO:0019005, GO:0005747, GO:0005747, SCF ubiquitin ligase complex, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, GO:0032981, GO:0032981, GO:0031146, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, 87 56 103 39 48 68 60 46 32 ENSG00000105352 chr19 41618971 41627074 - CEACAM4 protein_coding 1089 GO:0016020, GO:0005887, membrane, integral component of plasma membrane, GO:0006909, phagocytosis, 36 14 27 10 14 6 13 10 232 ENSG00000105355 chr19 4838341 4867768 - PLIN3 protein_coding Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]. 10226 GO:0030133, GO:0016020, GO:0010008, GO:0005829, GO:0005829, GO:0005829, GO:0005811, GO:0005811, GO:0005794, GO:0005768, GO:0005737, transport vesicle, membrane, endosome membrane, cytosol, cytosol, cytosol, lipid droplet, lipid droplet, Golgi apparatus, endosome, cytoplasm, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0019915, GO:0016192, GO:0010890, lipid storage, vesicle-mediated transport, positive regulation of sequestering of triglyceride, 1508 1299 1912 491 695 786 566 650 650 ENSG00000105357 chr19 50188186 50310544 + MYH14 protein_coding This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 79784 GO:0097513, GO:0070062, GO:0042641, GO:0030426, GO:0016460, GO:0016020, GO:0005903, GO:0005829, GO:0001725, myosin II filament, extracellular exosome, actomyosin, growth cone, myosin II complex, membrane, brush border, cytosol, stress fiber, GO:0051015, GO:0030898, GO:0016887, GO:0005524, GO:0005516, GO:0000146, actin filament binding, actin-dependent ATPase activity, ATPase activity, ATP binding, calmodulin binding, microfilament motor activity, GO:0071625, GO:0070584, GO:0031032, GO:0030048, GO:0019228, GO:0008360, GO:0007605, GO:0007519, GO:0003009, vocalization behavior, mitochondrion morphogenesis, actomyosin structure organization, actin filament-based movement, neuronal action potential, regulation of cell shape, sensory perception of sound, skeletal muscle tissue development, skeletal muscle contraction, 0 0 0 0 0 0 0 2 0 ENSG00000105364 chr19 10251901 10260045 + MRPL4 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]. 51073 GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 14 18 29 63 20 49 35 17 30 ENSG00000105366 chr19 51450847 51458456 - SIGLEC8 protein_coding Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]. 27181 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0033691, GO:0030246, GO:0005515, GO:0004888, sialic acid binding, carbohydrate binding, protein binding, transmembrane signaling receptor activity, GO:0007165, GO:0007155, signal transduction, cell adhesion, 21 41 52 0 4 0 0 7 0 ENSG00000105369 chr19 41877120 41881372 + CD79A protein_coding The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 973 GO:0045121, GO:0019815, GO:0019815, GO:0016021, GO:0009897, GO:0009897, GO:0005886, GO:0005771, membrane raft, B cell receptor complex, B cell receptor complex, integral component of membrane, external side of plasma membrane, external side of plasma membrane, plasma membrane, multivesicular body, GO:0042802, GO:0005515, GO:0004888, identical protein binding, protein binding, transmembrane signaling receptor activity, GO:0050853, GO:0050853, GO:0042113, GO:0042100, GO:0030183, GO:0030183, GO:0002250, B cell receptor signaling pathway, B cell receptor signaling pathway, B cell activation, B cell proliferation, B cell differentiation, B cell differentiation, adaptive immune response, 17 37 11 51 93 71 43 64 33 ENSG00000105370 chr19 51379909 51387960 - LIM2 protein_coding This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 3982 GO:0031982, GO:0030054, GO:0016021, GO:0005886, vesicle, cell junction, integral component of membrane, plasma membrane, GO:0005212, structural constituent of eye lens, GO:0007043, GO:0002088, cell-cell junction assembly, lens development in camera-type eye, 2 3 0 4 0 0 0 0 0 ENSG00000105371 chr19 10286967 10288522 + ICAM4 protein_coding This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 3386 GO:0016021, GO:0005887, GO:0005886, GO:0005576, integral component of membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0005178, integrin binding, GO:0098609, GO:0050776, GO:0030198, GO:0007155, cell-cell adhesion, regulation of immune response, extracellular matrix organization, cell adhesion, 4 19 8 45 66 150 23 54 54 ENSG00000105372 chr19 41859918 41872926 + RPS19 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6223 GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0014069, GO:0014069, GO:0005925, GO:0005840, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, postsynaptic density, postsynaptic density, focal adhesion, ribosome, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, GO:0042802, GO:0019901, GO:0017134, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, identical protein binding, protein kinase binding, fibroblast growth factor binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0061844, GO:0060266, GO:0060265, GO:0051272, GO:0050829, GO:0042274, GO:0031640, GO:0030490, GO:0030218, GO:0019083, GO:0009991, GO:0007219, GO:0007000, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0002548, GO:0000462, GO:0000184, GO:0000028, GO:0000028, antimicrobial humoral immune response mediated by antimicrobial peptide, negative regulation of respiratory burst involved in inflammatory response, positive regulation of respiratory burst involved in inflammatory response, positive regulation of cellular component movement, defense response to Gram-negative bacterium, ribosomal small subunit biogenesis, killing of cells of other organism, maturation of SSU-rRNA, erythrocyte differentiation, viral transcription, response to extracellular stimulus, Notch signaling pathway, nucleolus organization, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, monocyte chemotaxis, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal small subunit assembly, ribosomal small subunit assembly, 545 337 897 1831 769 1956 1276 603 1368 ENSG00000105373 chr19 47745522 47757058 + NOP53 protein_coding 29997 GO:0043231, GO:0033553, GO:0005829, GO:0005730, GO:0005730, GO:0005654, GO:0001650, intracellular membrane-bounded organelle, rDNA heterochromatin, cytosol, nucleolus, nucleolus, nucleoplasm, fibrillar center, GO:0042802, GO:0008097, GO:0008097, GO:0005515, GO:0003723, GO:0002039, identical protein binding, 5S rRNA binding, 5S rRNA binding, protein binding, RNA binding, p53 binding, GO:1990173, GO:1903715, GO:1903006, GO:1902570, GO:1901837, GO:1901797, GO:1901796, GO:0071456, GO:0051898, GO:0051726, GO:0050821, GO:0042981, GO:0039535, GO:0032436, GO:0032435, GO:0031333, GO:0016032, GO:0014067, GO:0007095, GO:0006974, GO:0006364, GO:0006281, GO:0001932, GO:0000122, GO:0000027, GO:0000027, protein localization to nucleoplasm, regulation of aerobic respiration, positive regulation of protein K63-linked deubiquitination, protein localization to nucleolus, negative regulation of transcription of nucleolar large rRNA by RNA polymerase I, negative regulation of signal transduction by p53 class mediator, regulation of signal transduction by p53 class mediator, cellular response to hypoxia, negative regulation of protein kinase B signaling, regulation of cell cycle, protein stabilization, regulation of apoptotic process, regulation of RIG-I signaling pathway, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein-containing complex assembly, viral process, negative regulation of phosphatidylinositol 3-kinase signaling, mitotic G2 DNA damage checkpoint, cellular response to DNA damage stimulus, rRNA processing, DNA repair, regulation of protein phosphorylation, negative regulation of transcription by RNA polymerase II, ribosomal large subunit assembly, ribosomal large subunit assembly, 554 383 1011 1811 794 2418 1584 765 1794 ENSG00000105374 chr19 51371606 51372715 - NKG7 protein_coding 4818 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, 93 102 379 441 219 1108 305 234 717 ENSG00000105376 chr19 10289981 10296778 + ICAM5 protein_coding The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]. 7087 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005178, protein binding, integrin binding, GO:0098609, GO:0050776, GO:0030198, GO:0007155, GO:0006909, cell-cell adhesion, regulation of immune response, extracellular matrix organization, cell adhesion, phagocytosis, 8 4 12 6 2 13 4 3 6 ENSG00000105379 chr19 51345169 51366418 - ETFB protein_coding This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 2109 GO:0005759, GO:0005759, GO:0005739, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0009055, GO:0009055, GO:0005515, electron transfer activity, electron transfer activity, protein binding, GO:0033539, GO:0022904, fatty acid beta-oxidation using acyl-CoA dehydrogenase, respiratory electron transport chain, 42 27 54 33 61 48 37 42 33 ENSG00000105383 chr19 51225064 51243860 + CD33 protein_coding 945 GO:0070821, GO:0035579, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005777, GO:0005654, tertiary granule membrane, specific granule membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, peroxisome, nucleoplasm, GO:0038023, GO:0033691, GO:0033691, GO:0030246, GO:0019903, GO:0005515, signaling receptor activity, sialic acid binding, sialic acid binding, carbohydrate binding, protein phosphatase binding, protein binding, GO:1903615, GO:0150102, GO:0098609, GO:0051926, GO:0050776, GO:0050714, GO:0043312, GO:0032720, GO:0032717, GO:0032691, GO:0008285, GO:0007267, GO:0007165, GO:0007155, GO:0002765, positive regulation of protein tyrosine phosphatase activity, negative regulation of monocyte activation, cell-cell adhesion, negative regulation of calcium ion transport, regulation of immune response, positive regulation of protein secretion, neutrophil degranulation, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interleukin-1 beta production, negative regulation of cell population proliferation, cell-cell signaling, signal transduction, cell adhesion, immune response-inhibiting signal transduction, 98 212 110 70 247 152 64 187 119 ENSG00000105388 chr19 41708585 41729798 + CEACAM5 protein_coding This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 1048 GO:0071575, GO:0070062, GO:0031225, GO:0016324, GO:0016323, GO:0009986, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005576, integral component of external side of plasma membrane, extracellular exosome, anchored component of membrane, apical plasma membrane, basolateral plasma membrane, cell surface, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0042803, GO:0042802, GO:0042802, GO:0034235, GO:0005515, protein homodimerization activity, identical protein binding, identical protein binding, GPI anchor binding, protein binding, GO:2000811, GO:0050900, GO:0043066, GO:0034109, GO:0010832, GO:0007157, GO:0007156, GO:0006915, negative regulation of anoikis, leukocyte migration, negative regulation of apoptotic process, homotypic cell-cell adhesion, negative regulation of myotube differentiation, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, apoptotic process, 0 0 0 0 1 7 0 0 0 ENSG00000105392 chr19 47819779 47843330 + CRX protein_coding The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]. 1406 GO:0090575, GO:0005634, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0043522, GO:0035257, GO:0005515, GO:0003700, GO:0001228, GO:0001216, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, leucine zipper domain binding, nuclear hormone receptor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0050896, GO:0045944, GO:0045944, GO:0030154, GO:0009887, GO:0007601, GO:0007399, GO:0006357, GO:0006355, response to stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cell differentiation, animal organ morphogenesis, visual perception, nervous system development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000105393 chr19 17267350 17281249 + BABAM1 protein_coding 29086 GO:0070552, GO:0070531, GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, BRISC complex, BRCA1-A complex, nuclear body, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0072425, GO:0070536, GO:0051301, GO:0045739, GO:0016579, GO:0010212, GO:0007049, GO:0006325, GO:0006303, GO:0006302, signal transduction involved in G2 DNA damage checkpoint, protein K63-linked deubiquitination, cell division, positive regulation of DNA repair, protein deubiquitination, response to ionizing radiation, cell cycle, chromatin organization, double-strand break repair via nonhomologous end joining, double-strand break repair, 16 23 24 32 39 27 35 19 12 ENSG00000105397 chr19 10350529 10380676 - TYK2 protein_coding This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]. 7297 GO:0070062, GO:0016020, GO:0005856, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, membrane, cytoskeleton, cytosol, cytoplasm, nucleus, GO:0031702, GO:0005524, GO:0005515, GO:0005131, GO:0004715, GO:0004713, GO:0004713, type 1 angiotensin receptor binding, ATP binding, protein binding, growth hormone receptor binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0070106, GO:0060337, GO:0038155, GO:0035722, GO:0035556, GO:0019221, GO:0018108, GO:0006468, interleukin-27-mediated signaling pathway, type I interferon signaling pathway, interleukin-23-mediated signaling pathway, interleukin-12-mediated signaling pathway, intracellular signal transduction, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, protein phosphorylation, 4008 4270 5188 3925 5777 4821 4336 4365 4332 ENSG00000105398 chr19 47870466 47886397 - SULT2A1 protein_coding This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]. 6822 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0050656, GO:0050294, GO:0050294, GO:0047704, GO:0008146, GO:0008146, GO:0005515, GO:0004027, 3'-phosphoadenosine 5'-phosphosulfate binding, steroid sulfotransferase activity, steroid sulfotransferase activity, bile-salt sulfotransferase activity, sulfotransferase activity, sulfotransferase activity, protein binding, alcohol sulfotransferase activity, GO:0051923, GO:0051923, GO:0050427, GO:0050427, GO:0042403, GO:0030573, GO:0019216, GO:0008203, GO:0008202, GO:0008202, GO:0006805, GO:0006068, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, thyroid hormone metabolic process, bile acid catabolic process, regulation of lipid metabolic process, cholesterol metabolic process, steroid metabolic process, steroid metabolic process, xenobiotic metabolic process, ethanol catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000105401 chr19 10391134 10420121 - CDC37 protein_coding The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008]. 11140 GO:1990565, GO:0101031, GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005737, HSP90-CDC37 chaperone complex, chaperone complex, extracellular exosome, cytosol, cytosol, cytoplasm, cytoplasm, GO:0097110, GO:0051879, GO:0051087, GO:0051082, GO:0031072, GO:0031072, GO:0019901, GO:0019900, GO:0019887, GO:0005515, scaffold protein binding, Hsp90 protein binding, chaperone binding, unfolded protein binding, heat shock protein binding, heat shock protein binding, protein kinase binding, kinase binding, protein kinase regulator activity, protein binding, GO:0098779, GO:0060338, GO:0060334, GO:0050821, GO:0038128, GO:0010608, GO:0006605, GO:0006457, GO:0000079, positive regulation of mitophagy in response to mitochondrial depolarization, regulation of type I interferon-mediated signaling pathway, regulation of interferon-gamma-mediated signaling pathway, protein stabilization, ERBB2 signaling pathway, posttranscriptional regulation of gene expression, protein targeting, protein folding, regulation of cyclin-dependent protein serine/threonine kinase activity, 1055 930 1328 1076 1022 1072 1079 832 978 ENSG00000105402 chr19 47487637 47515240 - NAPA protein_coding This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011]. 8775 GO:0098978, GO:0098793, GO:0070062, GO:0070044, GO:0031201, GO:0016020, GO:0005886, GO:0005829, GO:0005774, GO:0000139, glutamatergic synapse, presynapse, extracellular exosome, synaptobrevin 2-SNAP-25-syntaxin-1a complex, SNARE complex, membrane, plasma membrane, cytosol, vacuolar membrane, Golgi membrane, GO:0044877, GO:0019905, GO:0005515, GO:0005483, GO:0000149, protein-containing complex binding, syntaxin binding, protein binding, soluble NSF attachment protein activity, SNARE binding, GO:0061025, GO:0048208, GO:0045176, GO:0035494, GO:0035249, GO:0032781, GO:0030182, GO:0016082, GO:0010807, GO:0007420, GO:0006891, GO:0006890, GO:0006888, GO:0006886, membrane fusion, COPII vesicle coating, apical protein localization, SNARE complex disassembly, synaptic transmission, glutamatergic, positive regulation of ATPase activity, neuron differentiation, synaptic vesicle priming, regulation of synaptic vesicle priming, brain development, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 1672 2172 1949 4373 4853 4499 4795 3459 2930 ENSG00000105404 chr19 41956681 41959390 - RABAC1 protein_coding 10567 GO:0016021, GO:0016020, GO:0008021, GO:0005886, GO:0005794, integral component of membrane, membrane, synaptic vesicle, plasma membrane, Golgi apparatus, GO:0070064, GO:0042802, GO:0008022, GO:0005515, proline-rich region binding, identical protein binding, protein C-terminus binding, protein binding, 68 63 52 47 76 80 42 69 71 ENSG00000105409 chr19 41966582 41997497 - ATP1A3 protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 478 GO:1903561, GO:0098984, GO:0060342, GO:0045202, GO:0043025, GO:0032809, GO:0031090, GO:0030424, GO:0016021, GO:0016020, GO:0005890, GO:0005890, GO:0005890, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0001917, extracellular vesicle, neuron to neuron synapse, photoreceptor inner segment membrane, synapse, neuronal cell body, neuronal cell body membrane, organelle membrane, axon, integral component of membrane, membrane, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, photoreceptor inner segment, GO:1990239, GO:0099520, GO:0051087, GO:0046872, GO:0005524, GO:0005515, GO:0005391, GO:0005391, GO:0005391, GO:0005391, GO:0001540, GO:0001540, steroid hormone binding, ion antiporter activity involved in regulation of presynaptic membrane potential, chaperone binding, metal ion binding, ATP binding, protein binding, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, amyloid-beta binding, amyloid-beta binding, GO:1990573, GO:1990573, GO:1990535, GO:1904646, GO:1903779, GO:1903416, GO:1902600, GO:0086064, GO:0071383, GO:0060075, GO:0036376, GO:0036376, GO:0034220, GO:0030007, GO:0030007, GO:0010248, GO:0006883, GO:0006883, potassium ion import across plasma membrane, potassium ion import across plasma membrane, neuron projection maintenance, cellular response to amyloid-beta, regulation of cardiac conduction, response to glycoside, proton transmembrane transport, cell communication by electrical coupling involved in cardiac conduction, cellular response to steroid hormone stimulus, regulation of resting membrane potential, sodium ion export across plasma membrane, sodium ion export across plasma membrane, ion transmembrane transport, cellular potassium ion homeostasis, cellular potassium ion homeostasis, establishment or maintenance of transmembrane electrochemical gradient, cellular sodium ion homeostasis, cellular sodium ion homeostasis, 0 0 1 2 1 11 9 2 18 ENSG00000105419 chr19 47403124 47419523 - MEIS3 protein_coding This gene encodes a homeobox protein and probable transcriptional regulator. The orthologous protein in mouse controls expression of 3-phosphoinositide dependent protein kinase 1, which promotes survival of pancreatic beta-cells. [provided by RefSeq, Sep 2016]. 56917 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0043565, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001234, GO:0051897, GO:0045944, GO:0009887, GO:0009880, GO:0008284, GO:0007420, GO:0006357, GO:0001654, negative regulation of apoptotic signaling pathway, positive regulation of protein kinase B signaling, positive regulation of transcription by RNA polymerase II, animal organ morphogenesis, embryonic pattern specification, positive regulation of cell population proliferation, brain development, regulation of transcription by RNA polymerase II, eye development, 0 1 0 0 2 0 0 0 0 ENSG00000105426 chr19 5158495 5340803 - PTPRS protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]. 5802 GO:0099061, GO:0099056, GO:0098978, GO:0098685, GO:0070062, GO:0043204, GO:0030426, GO:0030424, GO:0030285, GO:0005887, GO:0005886, GO:0005886, GO:0005829, integral component of postsynaptic density membrane, integral component of presynaptic membrane, glutamatergic synapse, Schaffer collateral - CA1 synapse, extracellular exosome, perikaryon, growth cone, axon, integral component of synaptic vesicle membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0043395, GO:0035374, GO:0008201, GO:0005515, GO:0004725, GO:0004725, GO:0004721, heparan sulfate proteoglycan binding, chondroitin sulfate binding, heparin binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0099560, GO:0099560, GO:0099560, GO:0099151, GO:0090557, GO:0061000, GO:0050804, GO:0048681, GO:0048671, GO:0035335, GO:0034164, GO:0032688, GO:0032687, GO:0030517, GO:0022038, GO:0021987, GO:0021766, GO:0021549, GO:0021510, GO:0010977, GO:0006470, GO:0006470, synaptic membrane adhesion, synaptic membrane adhesion, synaptic membrane adhesion, regulation of postsynaptic density assembly, establishment of endothelial intestinal barrier, negative regulation of dendritic spine development, modulation of chemical synaptic transmission, negative regulation of axon regeneration, negative regulation of collateral sprouting, peptidyl-tyrosine dephosphorylation, negative regulation of toll-like receptor 9 signaling pathway, negative regulation of interferon-beta production, negative regulation of interferon-alpha production, negative regulation of axon extension, corpus callosum development, cerebral cortex development, hippocampus development, cerebellum development, spinal cord development, negative regulation of neuron projection development, protein dephosphorylation, protein dephosphorylation, 6 3 15 4 7 17 10 8 2 ENSG00000105427 chr19 42387019 42390287 - CNFN protein_coding 84518 GO:0005737, GO:0001533, GO:0001533, cytoplasm, cornified envelope, cornified envelope, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 3 1 0 0 0 0 ENSG00000105428 chr19 5455431 5456856 + ZNRF4 protein_coding 148066 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0016567, GO:0006511, GO:0006511, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000105429 chr19 42325609 42378769 + MEGF8 protein_coding The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 1954 GO:0070062, GO:0016021, GO:0005634, extracellular exosome, integral component of membrane, nucleus, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0097155, GO:0097094, GO:0071907, GO:0061371, GO:0060976, GO:0060972, GO:0060971, GO:0055113, GO:0048842, GO:0048704, GO:0045879, GO:0042074, GO:0035108, GO:0030509, GO:0030326, GO:0010468, GO:0009888, GO:0009887, GO:0003143, fasciculation of sensory neuron axon, craniofacial suture morphogenesis, determination of digestive tract left/right asymmetry, determination of heart left/right asymmetry, coronary vasculature development, left/right pattern formation, embryonic heart tube left/right pattern formation, epiboly involved in gastrulation with mouth forming second, positive regulation of axon extension involved in axon guidance, embryonic skeletal system morphogenesis, negative regulation of smoothened signaling pathway, cell migration involved in gastrulation, limb morphogenesis, BMP signaling pathway, embryonic limb morphogenesis, regulation of gene expression, tissue development, animal organ morphogenesis, embryonic heart tube morphogenesis, 20 20 43 35 22 49 38 24 20 ENSG00000105438 chr19 48382570 48391553 - KDELR1 protein_coding Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]. 10945 GO:0033116, GO:0030663, GO:0030133, GO:0016021, GO:0005801, GO:0005793, GO:0005789, GO:0005789, GO:0005783, GO:0000139, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, COPI-coated vesicle membrane, transport vesicle, integral component of membrane, cis-Golgi network, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0046923, GO:0005515, GO:0005046, ER retention sequence binding, protein binding, KDEL sequence binding, GO:0070231, GO:0030217, GO:0015031, GO:0006890, GO:0006890, GO:0006888, GO:0006888, GO:0006621, GO:0002369, T cell apoptotic process, T cell differentiation, protein transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein retention in ER lumen, T cell cytokine production, 159 199 172 93 151 110 90 148 109 ENSG00000105443 chr19 48469032 48482314 + CYTH2 protein_coding The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 9266 GO:0030426, GO:0016020, GO:0005923, GO:0005912, GO:0005886, GO:0005829, GO:0005737, GO:0000139, growth cone, membrane, bicellular tight junction, adherens junction, plasma membrane, cytosol, cytoplasm, Golgi membrane, GO:0070679, GO:0008289, GO:0005515, GO:0005085, inositol 1,4,5 trisphosphate binding, lipid binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0032012, GO:0030036, GO:0006897, regulation of ARF protein signal transduction, actin cytoskeleton organization, endocytosis, 478 598 480 697 961 770 690 704 584 ENSG00000105447 chr19 48445773 48457022 + GRWD1 protein_coding This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]. 83743 GO:0032991, GO:0005829, GO:0005730, GO:0005694, GO:0005654, GO:0005634, protein-containing complex, cytosol, nucleolus, chromosome, nucleoplasm, nucleus, GO:0042393, GO:0005515, GO:0003723, GO:0003688, GO:0003682, histone binding, protein binding, RNA binding, DNA replication origin binding, chromatin binding, GO:0006337, GO:0006334, GO:0006334, GO:0006260, nucleosome disassembly, nucleosome assembly, nucleosome assembly, DNA replication, 20 19 56 97 13 53 66 26 34 ENSG00000105464 chr19 48394875 48444931 + GRIN2D protein_coding N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]. 2906 GO:0098839, GO:0017146, GO:0017146, GO:0017146, GO:0005887, GO:0005886, GO:0005886, postsynaptic density membrane, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0022849, GO:0015276, GO:0005515, GO:0004972, GO:0004972, GO:0004972, GO:0004972, GO:0004970, signaling receptor activity, glutamate-gated calcium ion channel activity, ligand-gated ion channel activity, protein binding, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, ionotropic glutamate receptor activity, GO:0098976, GO:0097553, GO:0060291, GO:0060079, GO:0051930, GO:0048167, GO:0035235, GO:0019722, GO:0008344, GO:0007420, GO:0001964, excitatory chemical synaptic transmission, calcium ion transmembrane import into cytosol, long-term synaptic potentiation, excitatory postsynaptic potential, regulation of sensory perception of pain, regulation of synaptic plasticity, ionotropic glutamate receptor signaling pathway, calcium-mediated signaling, adult locomotory behavior, brain development, startle response, 0 0 0 0 4 0 0 0 0 ENSG00000105467 chr19 48364395 48376376 + SYNGR4 protein_coding This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008]. 23546 GO:0031594, GO:0030672, GO:0016021, neuromuscular junction, synaptic vesicle membrane, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000105472 chr19 50723329 50725718 + CLEC11A protein_coding This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]. 6320 GO:0005737, GO:0005615, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0030246, GO:0008083, GO:0008083, GO:0005515, carbohydrate binding, growth factor activity, growth factor activity, protein binding, GO:0008284, GO:0007165, GO:0001503, positive regulation of cell population proliferation, signal transduction, ossification, 2 3 4 0 1 3 0 4 6 ENSG00000105479 chr19 48296457 48321894 - CCDC114 protein_coding This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]. 93233 GO:0036157, GO:0005930, GO:0005930, GO:0005929, outer dynein arm, axoneme, axoneme, cilium, GO:0005515, protein binding, GO:0036158, GO:0036158, GO:0003341, GO:0003341, outer dynein arm assembly, outer dynein arm assembly, cilium movement, cilium movement, 14 12 13 7 21 37 11 21 17 ENSG00000105483 chr19 48180770 48255946 - CARD8 protein_coding The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]. 22900 GO:0072559, GO:0072559, GO:0061702, GO:0032991, GO:0005829, GO:0005737, GO:0005654, GO:0005634, NLRP3 inflammasome complex, NLRP3 inflammasome complex, inflammasome complex, protein-containing complex, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0050700, GO:0042803, GO:0032089, GO:0008656, GO:0008656, GO:0005515, CARD domain binding, protein homodimerization activity, NACHT domain binding, cysteine-type endopeptidase activator activity involved in apoptotic process, cysteine-type endopeptidase activator activity involved in apoptotic process, protein binding, GO:0097340, GO:0043280, GO:0043124, GO:0043122, GO:0032731, GO:0032691, GO:0032088, GO:0031665, GO:0010804, GO:0006919, GO:0006915, inhibition of cysteine-type endopeptidase activity, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of interleukin-1 beta production, negative regulation of interleukin-1 beta production, negative regulation of NF-kappaB transcription factor activity, negative regulation of lipopolysaccharide-mediated signaling pathway, negative regulation of tumor necrosis factor-mediated signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 5648 5389 6369 5005 6779 6325 6044 5084 5121 ENSG00000105486 chr19 48115445 48170603 - LIG1 protein_coding This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 3978 GO:0043231, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005524, GO:0003910, GO:0003909, GO:0003909, GO:0003909, GO:0003677, metal ion binding, ATP binding, DNA ligase (ATP) activity, DNA ligase activity, DNA ligase activity, DNA ligase activity, DNA binding, GO:1903461, GO:0071897, GO:0051301, GO:0051103, GO:0033151, GO:0009653, GO:0006298, GO:0006297, GO:0006284, GO:0006283, GO:0006281, GO:0006273, GO:0006266, Okazaki fragment processing involved in mitotic DNA replication, DNA biosynthetic process, cell division, DNA ligation involved in DNA repair, V(D)J recombination, anatomical structure morphogenesis, mismatch repair, nucleotide-excision repair, DNA gap filling, base-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, lagging strand elongation, DNA ligation, 56 40 105 124 37 134 101 24 130 ENSG00000105492 chr19 51519525 51531856 - SIGLEC6 protein_coding This gene encodes a member of the SIGLEC (sialic acid binding immunoglobulin-like lectin) family of proteins. The encoded transmembrane receptor binds sialyl-TN glycans and leptin. Placental expression of the encoded protein is upregulated in preeclampsia. [provided by RefSeq, Jul 2016]. 946 GO:0016020, GO:0005887, GO:0005886, GO:0005576, membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0033691, GO:0030246, GO:0005515, sialic acid binding, carbohydrate binding, protein binding, GO:0007267, GO:0007155, cell-cell signaling, cell adhesion, 0 1 2 0 0 0 3 0 0 ENSG00000105497 chr19 51571298 51592508 + ZNF175 protein_coding 7728 GO:0045111, GO:0005829, GO:0005654, GO:0005634, intermediate filament cytoskeleton, cytosol, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003700, GO:0001228, GO:0001227, GO:0000981, GO:0000978, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0051607, GO:0045944, GO:0006357, GO:0000122, defense response to virus, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 4 3 3 25 8 17 12 8 8 ENSG00000105499 chr19 48047843 48110817 - PLA2G4C protein_coding This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]. 8605 GO:0031966, GO:0016020, GO:0005938, GO:0005886, GO:0005829, GO:0005829, GO:0005811, GO:0005789, GO:0005789, GO:0005654, GO:0005635, mitochondrial membrane, membrane, cell cortex, plasma membrane, cytosol, cytosol, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum membrane, nucleoplasm, nuclear envelope, GO:0102568, GO:0102567, GO:0102545, GO:0047499, GO:0047498, GO:0008970, GO:0008374, GO:0005544, GO:0005543, GO:0005515, GO:0005509, GO:0004623, GO:0004622, GO:0004622, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), phosphatidyl phospholipase B activity, calcium-independent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, phospholipase A1 activity, O-acyltransferase activity, calcium-dependent phospholipid binding, phospholipid binding, protein binding, calcium ion binding, phospholipase A2 activity, lysophospholipase activity, lysophospholipase activity, GO:0140042, GO:0046475, GO:0046475, GO:0036152, GO:0036152, GO:0036151, GO:0036151, GO:0036149, GO:0035556, GO:0019369, GO:0016032, GO:0007567, GO:0006954, GO:0006663, GO:0006644, lipid droplet formation, glycerophospholipid catabolic process, glycerophospholipid catabolic process, phosphatidylethanolamine acyl-chain remodeling, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, intracellular signal transduction, arachidonic acid metabolic process, viral process, parturition, inflammatory response, platelet activating factor biosynthetic process, phospholipid metabolic process, 2 1 14 13 8 19 9 9 31 ENSG00000105501 chr19 51611927 51645545 - SIGLEC5 protein_coding This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. The encoded protein is a member of the CD33-related subset of Siglecs and inhibits the activation of several cell types including monocytes, macrophages and neutrophils. Binding of group B Streptococcus (GBS) to the encoded protein plays a role in GBS immune evasion. [provided by RefSeq, Feb 2012]. 8778 GO:0101003, GO:0070821, GO:0030667, GO:0016021, GO:0005886, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, secretory granule membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0033691, GO:0030246, GO:0005515, sialic acid binding, carbohydrate binding, protein binding, GO:0043312, GO:0007155, neutrophil degranulation, cell adhesion, 109 63 122 24 33 28 43 39 29 ENSG00000105507 chr19 48029953 48044053 - CABP5 protein_coding The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009]. 56344 GO:0005829, cytosol, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0007165, signal transduction, 0 0 0 0 0 2 0 0 0 ENSG00000105509 chr19 51713112 51723994 - HAS1 protein_coding Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 3036 GO:0005887, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0050501, GO:0050501, GO:0042802, GO:0005515, hyaluronan synthase activity, hyaluronan synthase activity, identical protein binding, protein binding, GO:0085029, GO:0085029, GO:0045226, GO:0045226, GO:0044849, GO:0036120, GO:0030213, GO:0030213, GO:0030213, GO:0010764, GO:0007155, GO:0006024, extracellular matrix assembly, extracellular matrix assembly, extracellular polysaccharide biosynthetic process, extracellular polysaccharide biosynthetic process, estrous cycle, cellular response to platelet-derived growth factor stimulus, hyaluronan biosynthetic process, hyaluronan biosynthetic process, hyaluronan biosynthetic process, negative regulation of fibroblast migration, cell adhesion, glycosaminoglycan biosynthetic process, 33 21 8 23 14 15 25 12 10 ENSG00000105514 chr19 11322046 11346270 - RAB3D protein_coding 9545 GO:0099503, GO:0070062, GO:0042588, GO:0035577, GO:0008021, GO:0005886, GO:0005886, GO:0005881, GO:0005768, secretory vesicle, extracellular exosome, zymogen granule, azurophil granule membrane, synaptic vesicle, plasma membrane, plasma membrane, cytoplasmic microtubule, endosome, GO:0031489, GO:0030742, GO:0005525, GO:0005515, GO:0003924, myosin V binding, GTP-dependent protein binding, GTP binding, protein binding, GTPase activity, GO:1903307, GO:0072659, GO:0045453, GO:0043312, GO:0018125, GO:0017157, GO:0009306, GO:0006904, positive regulation of regulated secretory pathway, protein localization to plasma membrane, bone resorption, neutrophil degranulation, peptidyl-cysteine methylation, regulation of exocytosis, protein secretion, vesicle docking involved in exocytosis, 1715 1951 2681 410 1314 692 551 1272 805 ENSG00000105516 chr19 48630030 48637438 - DBP protein_coding The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]. 1628 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0007623, GO:0006357, GO:0006357, GO:0001889, positive regulation of transcription by RNA polymerase II, circadian rhythm, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, liver development, 24 42 59 60 63 60 48 50 39 ENSG00000105518 chr19 11342776 11346518 - TMEM205 protein_coding 374882 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 66 125 277 58 134 208 77 117 214 ENSG00000105519 chr19 5911707 5915877 + CAPS protein_coding This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008]. 828 GO:0031982, GO:0005737, vesicle, cytoplasm, GO:0005509, calcium ion binding, GO:0035556, intracellular signal transduction, 67 59 82 172 121 205 148 83 94 ENSG00000105520 chr19 11355386 11365698 + PLPPR2 protein_coding 64748 GO:0005887, integral component of plasma membrane, GO:0042577, GO:0008195, GO:0005515, lipid phosphatase activity, phosphatidate phosphatase activity, protein binding, GO:0046839, GO:0007165, GO:0006644, phospholipid dephosphorylation, signal transduction, phospholipid metabolic process, 2653 3559 3670 838 2009 1177 999 1846 1174 ENSG00000105523 chr19 48600810 48614854 - FAM83E protein_coding 54854 GO:0019901, GO:0019901, GO:0005515, protein kinase binding, protein kinase binding, protein binding, GO:0007165, signal transduction, 0 0 0 0 2 0 2 0 0 ENSG00000105538 chr19 48720587 48740721 - RASIP1 protein_coding 54922 GO:0048471, GO:0032991, GO:0005911, GO:0005795, perinuclear region of cytoplasm, protein-containing complex, cell-cell junction, Golgi stack, GO:0051020, GO:0042803, GO:0005515, GTPase binding, protein homodimerization activity, protein binding, GO:2000299, GO:1905709, GO:0048754, GO:0043087, GO:0035024, GO:0033625, GO:0010507, GO:0007165, GO:0001570, GO:0001525, negative regulation of Rho-dependent protein serine/threonine kinase activity, negative regulation of membrane permeability, branching morphogenesis of an epithelial tube, regulation of GTPase activity, negative regulation of Rho protein signal transduction, positive regulation of integrin activation, negative regulation of autophagy, signal transduction, vasculogenesis, angiogenesis, 0 1 1 2 1 0 3 0 0 ENSG00000105549 chr19 361747 376670 - THEG protein_coding This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 51298 GO:0005634, nucleus, GO:0005515, protein binding, GO:0051131, GO:0030154, GO:0007283, GO:0007275, chaperone-mediated protein complex assembly, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000105550 chr19 48755559 48758333 + FGF21 protein_coding Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016]. 26291 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005104, growth factor activity, protein binding, fibroblast growth factor receptor binding, GO:2000352, GO:1904640, GO:1901215, GO:0120162, GO:0090080, GO:0072577, GO:0071404, GO:0071377, GO:0071333, GO:0070374, GO:0046326, GO:0035690, GO:0031667, GO:0030968, GO:0030334, GO:0030154, GO:0014823, GO:0010988, GO:0010898, GO:0010628, GO:0009887, GO:0008543, GO:0008284, GO:0007267, GO:0007165, GO:0001934, negative regulation of endothelial cell apoptotic process, response to methionine, negative regulation of neuron death, positive regulation of cold-induced thermogenesis, positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway, endothelial cell apoptotic process, cellular response to low-density lipoprotein particle stimulus, cellular response to glucagon stimulus, cellular response to glucose stimulus, positive regulation of ERK1 and ERK2 cascade, positive regulation of glucose import, cellular response to drug, response to nutrient levels, endoplasmic reticulum unfolded protein response, regulation of cell migration, cell differentiation, response to activity, regulation of low-density lipoprotein particle clearance, positive regulation of triglyceride catabolic process, positive regulation of gene expression, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000105552 chr19 48795062 48811029 - BCAT2 protein_coding This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 587 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0052656, GO:0052655, GO:0052654, GO:0005515, GO:0004084, L-isoleucine transaminase activity, L-valine transaminase activity, L-leucine transaminase activity, protein binding, branched-chain-amino-acid transaminase activity, GO:1990830, GO:0010817, GO:0009099, GO:0009098, GO:0009083, GO:0009082, GO:0006550, cellular response to leukemia inhibitory factor, regulation of hormone levels, valine biosynthetic process, leucine biosynthetic process, branched-chain amino acid catabolic process, branched-chain amino acid biosynthetic process, isoleucine catabolic process, 3 4 12 18 5 42 11 12 7 ENSG00000105556 chr19 301444 344815 - MIER2 protein_coding 54531 GO:0032991, GO:0005737, GO:0005654, GO:0005634, protein-containing complex, cytoplasm, nucleoplasm, nucleus, GO:0042826, GO:0042826, GO:0005515, GO:0004407, GO:0003714, GO:0001103, histone deacetylase binding, histone deacetylase binding, protein binding, histone deacetylase activity, transcription corepressor activity, RNA polymerase II repressing transcription factor binding, GO:0016575, GO:0016575, GO:0000122, histone deacetylation, histone deacetylation, negative regulation of transcription by RNA polymerase II, 12 14 35 37 17 31 22 12 25 ENSG00000105559 chr19 48837097 48868632 - PLEKHA4 protein_coding This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]. 57664 GO:0031234, GO:0031234, GO:0005886, GO:0005737, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, plasma membrane, cytoplasm, GO:0080025, GO:0080025, GO:0043325, GO:0043325, GO:0032266, GO:0032266, GO:0005546, GO:0005546, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, GO:2000096, GO:2000096, GO:0090263, GO:0090263, GO:0006661, positive regulation of Wnt signaling pathway, planar cell polarity pathway, positive regulation of Wnt signaling pathway, planar cell polarity pathway, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, phosphatidylinositol biosynthetic process, 3 1 2 2 6 0 5 0 0 ENSG00000105568 chr19 52190039 52229533 + PPP2R1A protein_coding This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]. 5518 GO:0098978, GO:0070062, GO:0030425, GO:0016328, GO:0016020, GO:0015630, GO:0008287, GO:0005829, GO:0005739, GO:0005737, GO:0005634, GO:0005634, GO:0000775, GO:0000159, GO:0000159, GO:0000159, glutamatergic synapse, extracellular exosome, dendrite, lateral plasma membrane, membrane, microtubule cytoskeleton, protein serine/threonine phosphatase complex, cytosol, mitochondrion, cytoplasm, nucleus, nucleus, chromosome, centromeric region, protein phosphatase type 2A complex, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:1990405, GO:0046982, GO:0019888, GO:0019888, GO:0005515, GO:0004722, protein antigen binding, protein heterodimerization activity, protein phosphatase regulator activity, protein phosphatase regulator activity, protein binding, protein serine/threonine phosphatase activity, GO:2001241, GO:1903538, GO:0097711, GO:0070262, GO:0065003, GO:0051754, GO:0051306, GO:0051232, GO:0045595, GO:0043666, GO:0042532, GO:0040008, GO:0030308, GO:0030155, GO:0030111, GO:0019932, GO:0010389, GO:0010033, GO:0008380, GO:0007143, GO:0007084, GO:0007059, GO:0006915, GO:0006672, GO:0006470, GO:0006355, GO:0006275, GO:0000188, GO:0000184, GO:0000086, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, regulation of meiotic cell cycle process involved in oocyte maturation, ciliary basal body-plasma membrane docking, peptidyl-serine dephosphorylation, protein-containing complex assembly, meiotic sister chromatid cohesion, centromeric, mitotic sister chromatid separation, meiotic spindle elongation, regulation of cell differentiation, regulation of phosphoprotein phosphatase activity, negative regulation of tyrosine phosphorylation of STAT protein, regulation of growth, negative regulation of cell growth, regulation of cell adhesion, regulation of Wnt signaling pathway, second-messenger-mediated signaling, regulation of G2/M transition of mitotic cell cycle, response to organic substance, RNA splicing, female meiotic nuclear division, mitotic nuclear envelope reassembly, chromosome segregation, apoptotic process, ceramide metabolic process, protein dephosphorylation, regulation of transcription, DNA-templated, regulation of DNA replication, inactivation of MAPK activity, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, G2/M transition of mitotic cell cycle, 549 505 510 385 394 360 394 331 290 ENSG00000105576 chr19 12699194 12724011 - TNPO2 protein_coding 30000 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0061608, GO:0031267, GO:0008139, GO:0005515, nuclear import signal receptor activity, small GTPase binding, nuclear localization sequence binding, protein binding, GO:0006606, protein import into nucleus, 184 251 267 345 322 343 332 246 215 ENSG00000105583 chr19 12668071 12669489 - WDR83OS protein_coding 51398 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000105605 chr19 53909335 53943941 + CACNG7 protein_coding The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]. 59284 GO:1990454, GO:0098839, GO:0044300, GO:0043025, GO:0032281, GO:0032281, GO:0005891, GO:0005886, GO:0005769, L-type voltage-gated calcium channel complex, postsynaptic density membrane, cerebellar mossy fiber, neuronal cell body, AMPA glutamate receptor complex, AMPA glutamate receptor complex, voltage-gated calcium channel complex, plasma membrane, early endosome, GO:0016247, GO:0005515, GO:0005246, GO:0005245, GO:0005245, channel regulator activity, protein binding, calcium channel regulator activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:2000311, GO:2000311, GO:1903861, GO:0099590, GO:0098970, GO:0098943, GO:0070588, GO:0061337, GO:0051968, GO:0043488, GO:0019226, GO:0006816, regulation of AMPA receptor activity, regulation of AMPA receptor activity, positive regulation of dendrite extension, neurotransmitter receptor internalization, postsynaptic neurotransmitter receptor diffusion trapping, neurotransmitter receptor transport, postsynaptic endosome to lysosome, calcium ion transmembrane transport, cardiac conduction, positive regulation of synaptic transmission, glutamatergic, regulation of mRNA stability, transmission of nerve impulse, calcium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000105607 chr19 12891026 12914207 + GCDH protein_coding The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]. 2639 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0050660, GO:0004361, GO:0000062, flavin adenine dinucleotide binding, glutaryl-CoA dehydrogenase activity, fatty-acyl-CoA binding, GO:0046949, GO:0033539, GO:0033539, GO:0006568, GO:0006554, fatty-acyl-CoA biosynthetic process, fatty acid beta-oxidation using acyl-CoA dehydrogenase, fatty acid beta-oxidation using acyl-CoA dehydrogenase, tryptophan metabolic process, lysine catabolic process, 44 32 54 52 51 66 35 33 31 ENSG00000105609 chr19 54249431 54257301 - LILRB5 protein_coding This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10990 GO:0016021, integral component of membrane, GO:0004888, transmembrane signaling receptor activity, GO:0007166, GO:0006952, GO:0002250, cell surface receptor signaling pathway, defense response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000105610 chr19 12884422 12887199 - KLF1 protein_coding This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]. 10661 GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000976, metal ion binding, protein binding, DNA-binding transcription factor activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901653, GO:0060135, GO:0045893, GO:0030218, GO:0006357, GO:0006355, cellular response to peptide, maternal process involved in female pregnancy, positive regulation of transcription, DNA-templated, erythrocyte differentiation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 2 ENSG00000105612 chr19 12875211 12881468 - DNASE2 protein_coding This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]. 1777 GO:0070062, GO:0005764, extracellular exosome, lysosome, GO:0004531, GO:0003677, deoxyribonuclease II activity, DNA binding, GO:0050776, GO:0030218, GO:0006309, GO:0006259, regulation of immune response, erythrocyte differentiation, apoptotic DNA fragmentation, DNA metabolic process, 70 703 643 66 338 247 91 395 185 ENSG00000105613 chr19 12833951 12874951 + MAST1 protein_coding This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]. 22983 GO:0043025, GO:0043005, GO:0030425, GO:0030424, GO:0005886, GO:0005856, GO:0005737, neuronal cell body, neuron projection, dendrite, axon, plasma membrane, cytoskeleton, cytoplasm, GO:0106311, GO:0106310, GO:0008017, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, microtubule binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0035556, GO:0018105, GO:0007420, GO:0007010, GO:0007010, GO:0006468, intracellular signal transduction, intracellular signal transduction, peptidyl-serine phosphorylation, brain development, cytoskeleton organization, cytoskeleton organization, protein phosphorylation, 0 3 0 4 2 14 2 14 10 ENSG00000105617 chr19 54155161 54159882 - LENG1 protein_coding 79165 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000105618 chr19 54115410 54131719 + PRPF31 protein_coding This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]. 26121 GO:0097526, GO:0071339, GO:0071011, GO:0071005, GO:0046540, GO:0016607, GO:0015030, GO:0005690, GO:0005690, GO:0005687, GO:0005687, GO:0005684, GO:0005654, GO:0005654, GO:0005634, spliceosomal tri-snRNP complex, MLL1 complex, precatalytic spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, nuclear speck, Cajal body, U4atac snRNP, U4atac snRNP, U4 snRNP, U4 snRNP, U2-type spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0070990, GO:0043021, GO:0042802, GO:0030622, GO:0030621, GO:0005515, GO:0003723, snRNP binding, ribonucleoprotein complex binding, identical protein binding, U4atac snRNA binding, U4 snRNA binding, protein binding, RNA binding, GO:0071166, GO:0048254, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000244, GO:0000244, ribonucleoprotein complex localization, snoRNA localization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal tri-snRNP complex assembly, spliceosomal tri-snRNP complex assembly, 1 5 2 7 3 5 9 2 15 ENSG00000105619 chr19 54107013 54115675 - TFPT protein_coding 29844 GO:0031965, GO:0031011, GO:0031011, GO:0005737, GO:0005654, GO:0005654, GO:0005634, nuclear membrane, Ino80 complex, Ino80 complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003677, GO:0003677, protein binding, DNA binding, DNA binding, GO:0097190, GO:0097190, GO:0043065, GO:0016579, GO:0006310, GO:0006281, apoptotic signaling pathway, apoptotic signaling pathway, positive regulation of apoptotic process, protein deubiquitination, DNA recombination, DNA repair, 0 0 0 0 0 0 0 0 0 ENSG00000105639 chr19 17824780 17848071 - JAK3 protein_coding The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]. 3718 GO:0005886, GO:0005856, GO:0005829, GO:0005768, plasma membrane, cytoskeleton, cytosol, endosome, GO:0019903, GO:0005524, GO:0005515, GO:0004715, GO:0004713, GO:0004713, protein phosphatase binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0071104, GO:0070672, GO:0070670, GO:0070669, GO:0070244, GO:0070232, GO:0060397, GO:0050868, GO:0046425, GO:0045626, GO:0045221, GO:0045087, GO:0043029, GO:0043029, GO:0043029, GO:0042981, GO:0042102, GO:0038114, GO:0038113, GO:0038111, GO:0038110, GO:0035771, GO:0035723, GO:0035556, GO:0032695, GO:0032693, GO:0030218, GO:0030183, GO:0030183, GO:0019221, GO:0019221, GO:0018108, GO:0007260, GO:0007260, GO:0007167, GO:0006468, GO:0002731, GO:0002250, GO:0000165, response to interleukin-9, response to interleukin-15, response to interleukin-4, response to interleukin-2, negative regulation of thymocyte apoptotic process, regulation of T cell apoptotic process, growth hormone receptor signaling pathway via JAK-STAT, negative regulation of T cell activation, regulation of receptor signaling pathway via JAK-STAT, negative regulation of T-helper 1 cell differentiation, negative regulation of FasL production, innate immune response, T cell homeostasis, T cell homeostasis, T cell homeostasis, regulation of apoptotic process, positive regulation of T cell proliferation, interleukin-21-mediated signaling pathway, interleukin-9-mediated signaling pathway, interleukin-7-mediated signaling pathway, interleukin-2-mediated signaling pathway, interleukin-4-mediated signaling pathway, interleukin-15-mediated signaling pathway, intracellular signal transduction, negative regulation of interleukin-12 production, negative regulation of interleukin-10 production, erythrocyte differentiation, B cell differentiation, B cell differentiation, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, tyrosine phosphorylation of STAT protein, tyrosine phosphorylation of STAT protein, enzyme linked receptor protein signaling pathway, protein phosphorylation, negative regulation of dendritic cell cytokine production, adaptive immune response, MAPK cascade, 3309 3767 4580 3261 4673 4853 3615 3581 3761 ENSG00000105640 chr19 17859876 17864153 + RPL18A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]. 6142 GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005829, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 531 356 915 1905 840 1998 1443 757 1463 ENSG00000105641 chr19 17871973 17895174 + SLC5A5 protein_coding This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]. 6528 GO:1903561, GO:0070062, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005634, extracellular vesicle, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, nucleus, GO:0015293, GO:0015111, GO:0015111, GO:0015111, GO:0015111, GO:0008507, GO:0008507, GO:0005515, symporter activity, iodide transmembrane transporter activity, iodide transmembrane transporter activity, iodide transmembrane transporter activity, iodide transmembrane transporter activity, sodium:iodide symporter activity, sodium:iodide symporter activity, protein binding, GO:1904200, GO:1904200, GO:1904200, GO:1904200, GO:0150104, GO:0071371, GO:0071320, GO:0015705, GO:0006814, GO:0006811, GO:0006590, iodide transmembrane transport, iodide transmembrane transport, iodide transmembrane transport, iodide transmembrane transport, transport across blood-brain barrier, cellular response to gonadotropin stimulus, cellular response to cAMP, iodide transport, sodium ion transport, ion transport, thyroid hormone generation, 2 0 0 4 0 2 0 0 6 ENSG00000105642 chr19 17951293 18000080 + KCNN1 protein_coding Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]. 3780 GO:0045202, GO:0043025, GO:0043005, GO:0008076, GO:0005886, GO:0005886, synapse, neuronal cell body, neuron projection, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0044877, GO:0016286, GO:0015269, GO:0005516, protein-containing complex binding, small conductance calcium-activated potassium channel activity, calcium-activated potassium channel activity, calmodulin binding, GO:0071805, GO:0007268, GO:0006813, GO:0006811, potassium ion transmembrane transport, chemical synaptic transmission, potassium ion transport, ion transport, 0 0 0 0 0 0 0 0 6 ENSG00000105643 chr19 18001132 18014102 + ARRDC2 protein_coding 27106 GO:0031410, GO:0005886, GO:0005886, GO:0005737, cytoplasmic vesicle, plasma membrane, plasma membrane, cytoplasm, GO:0005515, protein binding, GO:0015031, protein transport, 805 736 1264 528 519 541 534 459 525 ENSG00000105647 chr19 18153118 18170540 + PIK3R2 protein_coding Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]. 5296 GO:0005942, GO:0005829, GO:0005634, phosphatidylinositol 3-kinase complex, cytosol, nucleus, GO:0046982, GO:0046935, GO:0030971, GO:0019903, GO:0005515, GO:0001784, protein heterodimerization activity, 1-phosphatidylinositol-3-kinase regulator activity, receptor tyrosine kinase binding, protein phosphatase binding, protein binding, phosphotyrosine residue binding, GO:0051897, GO:0051056, GO:0050900, GO:0050852, GO:0048015, GO:0048010, GO:0046854, GO:0045944, GO:0043551, GO:0043409, GO:0042307, GO:0038096, GO:0038095, GO:0034976, GO:0032869, GO:0015031, GO:0014065, GO:0010506, GO:0008286, GO:0006661, GO:0001678, positive regulation of protein kinase B signaling, regulation of small GTPase mediated signal transduction, leukocyte migration, T cell receptor signaling pathway, phosphatidylinositol-mediated signaling, vascular endothelial growth factor receptor signaling pathway, phosphatidylinositol phosphorylation, positive regulation of transcription by RNA polymerase II, regulation of phosphatidylinositol 3-kinase activity, negative regulation of MAPK cascade, positive regulation of protein import into nucleus, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, response to endoplasmic reticulum stress, cellular response to insulin stimulus, protein transport, phosphatidylinositol 3-kinase signaling, regulation of autophagy, insulin receptor signaling pathway, phosphatidylinositol biosynthetic process, cellular glucose homeostasis, 0 0 1 0 5 4 2 2 0 ENSG00000105649 chr19 18196784 18204074 - RAB3A protein_coding 5864 GO:1903561, GO:0098993, GO:0070083, GO:0061202, GO:0060203, GO:0060201, GO:0048786, GO:0048471, GO:0043195, GO:0032991, GO:0030667, GO:0030424, GO:0030424, GO:0008021, GO:0008021, GO:0005886, GO:0005886, GO:0005829, GO:0005768, GO:0005764, GO:0001669, extracellular vesicle, anchored component of synaptic vesicle membrane, clathrin-sculpted monoamine transport vesicle membrane, clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, clathrin-sculpted glutamate transport vesicle membrane, clathrin-sculpted acetylcholine transport vesicle membrane, presynaptic active zone, perinuclear region of cytoplasm, terminal bouton, protein-containing complex, secretory granule membrane, axon, axon, synaptic vesicle, synaptic vesicle, plasma membrane, plasma membrane, cytosol, endosome, lysosome, acrosomal vesicle, GO:0051117, GO:0051021, GO:0031489, GO:0030742, GO:0008022, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0001671, ATPase binding, GDP-dissociation inhibitor binding, myosin V binding, GTP-dependent protein binding, protein C-terminus binding, GTP binding, protein binding, GTPase activity, GTPase activity, ATPase activator activity, GO:1905684, GO:1903307, GO:0097091, GO:0072659, GO:0061670, GO:0060478, GO:0051602, GO:0050975, GO:0048790, GO:0048489, GO:0048172, GO:0045921, GO:0045055, GO:0045054, GO:0043687, GO:0043312, GO:0036465, GO:0032781, GO:0032418, GO:0031630, GO:0031630, GO:0030324, GO:0017157, GO:0016188, GO:0016079, GO:0014059, GO:0014047, GO:0010807, GO:0009791, GO:0009306, GO:0007409, GO:0007274, GO:0007269, GO:0007005, GO:0006904, GO:0006887, GO:0003016, GO:0001778, regulation of plasma membrane repair, positive regulation of regulated secretory pathway, synaptic vesicle clustering, protein localization to plasma membrane, evoked neurotransmitter secretion, acrosomal vesicle exocytosis, response to electrical stimulus, sensory perception of touch, maintenance of presynaptic active zone structure, synaptic vesicle transport, regulation of short-term neuronal synaptic plasticity, positive regulation of exocytosis, regulated exocytosis, constitutive secretory pathway, post-translational protein modification, neutrophil degranulation, synaptic vesicle recycling, positive regulation of ATPase activity, lysosome localization, regulation of synaptic vesicle fusion to presynaptic active zone membrane, regulation of synaptic vesicle fusion to presynaptic active zone membrane, lung development, regulation of exocytosis, synaptic vesicle maturation, synaptic vesicle exocytosis, regulation of dopamine secretion, glutamate secretion, regulation of synaptic vesicle priming, post-embryonic development, protein secretion, axonogenesis, neuromuscular synaptic transmission, neurotransmitter secretion, mitochondrion organization, vesicle docking involved in exocytosis, exocytosis, respiratory system process, plasma membrane repair, 23 15 11 15 21 16 4 5 15 ENSG00000105650 chr19 18208652 18248200 - PDE4C protein_coding The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]. 5143 GO:0048471, GO:0005929, GO:0005829, GO:0005829, GO:0005634, GO:0005615, perinuclear region of cytoplasm, cilium, cytosol, cytosol, nucleus, extracellular space, GO:0046872, GO:0004115, GO:0004114, metal ion binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0007186, GO:0007165, GO:0006198, G protein-coupled receptor signaling pathway, signal transduction, cAMP catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000105655 chr19 18434388 18438301 - ISYNA1 protein_coding This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]. 51477 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005515, GO:0004512, GO:0004512, protein binding, inositol-3-phosphate synthase activity, inositol-3-phosphate synthase activity, GO:0043647, GO:0008654, GO:0006021, GO:0006021, inositol phosphate metabolic process, phospholipid biosynthetic process, inositol biosynthetic process, inositol biosynthetic process, 39 51 57 110 178 178 92 116 126 ENSG00000105656 chr19 18442663 18522127 - ELL protein_coding 8178 GO:0035363, GO:0035327, GO:0016607, GO:0015030, GO:0008023, GO:0005654, histone locus body, transcriptionally active chromatin, nuclear speck, Cajal body, transcription elongation factor complex, nucleoplasm, GO:0019902, GO:0005515, phosphatase binding, protein binding, GO:0045945, GO:0042796, GO:0042795, GO:0042795, GO:0032968, GO:0032786, GO:0010923, GO:0006368, GO:0006366, GO:0001701, positive regulation of transcription by RNA polymerase III, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, positive regulation of transcription elongation from RNA polymerase II promoter, positive regulation of DNA-templated transcription, elongation, negative regulation of phosphatase activity, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, in utero embryonic development, 3568 3324 6308 1957 2889 4020 2179 2332 3231 ENSG00000105662 chr19 18683677 18782333 + CRTC1 protein_coding 23373 GO:0098978, GO:0043025, GO:0030425, GO:0016604, GO:0014069, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, glutamatergic synapse, neuronal cell body, dendrite, nuclear body, postsynaptic density, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0008140, GO:0008140, GO:0005515, cAMP response element binding protein binding, cAMP response element binding protein binding, protein binding, GO:1902631, GO:1900273, GO:1900006, GO:0097009, GO:0051289, GO:0048511, GO:0045944, GO:0045944, GO:0043153, GO:0032793, GO:0032793, GO:0016032, GO:0007613, negative regulation of membrane hyperpolarization, positive regulation of long-term synaptic potentiation, positive regulation of dendrite development, energy homeostasis, protein homotetramerization, rhythmic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, entrainment of circadian clock by photoperiod, positive regulation of CREB transcription factor activity, positive regulation of CREB transcription factor activity, viral process, memory, 80 83 77 81 99 134 93 95 82 ENSG00000105664 chr19 18782773 18791314 - COMP protein_coding The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]. 1311 GO:0070062, GO:0062023, GO:0062023, GO:0032991, GO:0031012, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, protein-containing complex, extracellular matrix, extracellular space, extracellular region, extracellular region, GO:0043395, GO:0043394, GO:0036122, GO:0008201, GO:0005518, GO:0005515, GO:0005509, GO:0005201, GO:0005178, GO:0002020, heparan sulfate proteoglycan binding, proteoglycan binding, BMP binding, heparin binding, collagen binding, protein binding, calcium ion binding, extracellular matrix structural constituent, integrin binding, protease binding, GO:1902732, GO:1900047, GO:0097084, GO:0070527, GO:0060173, GO:0050905, GO:0050881, GO:0048844, GO:0048747, GO:0043588, GO:0043066, GO:0035989, GO:0035988, GO:0035264, GO:0030509, GO:0030500, GO:0030282, GO:0030199, GO:0030198, GO:0016485, GO:0014829, GO:0010468, GO:0010260, GO:0010259, GO:0009887, GO:0009306, GO:0006986, GO:0006915, GO:0003417, GO:0002063, GO:0001501, positive regulation of chondrocyte proliferation, negative regulation of hemostasis, vascular associated smooth muscle cell development, platelet aggregation, limb development, neuromuscular process, musculoskeletal movement, artery morphogenesis, muscle fiber development, skin development, negative regulation of apoptotic process, tendon development, chondrocyte proliferation, multicellular organism growth, BMP signaling pathway, regulation of bone mineralization, bone mineralization, collagen fibril organization, extracellular matrix organization, protein processing, vascular associated smooth muscle contraction, regulation of gene expression, animal organ senescence, multicellular organism aging, animal organ morphogenesis, protein secretion, response to unfolded protein, apoptotic process, growth plate cartilage development, chondrocyte development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000105668 chr19 35666516 35678483 + UPK1A protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 11045 GO:0120001, GO:0070062, GO:0032991, GO:0016021, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005783, apical plasma membrane urothelial plaque, extracellular exosome, protein-containing complex, integral component of membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0030855, epithelial cell differentiation, 0 1 0 0 1 1 0 0 4 ENSG00000105669 chr19 18899514 18919397 - COPE protein_coding The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 11316 GO:0030133, GO:0030126, GO:0030126, GO:0005829, GO:0005794, GO:0005789, GO:0005654, GO:0000139, transport vesicle, COPI vesicle coat, COPI vesicle coat, cytosol, Golgi apparatus, endoplasmic reticulum membrane, nucleoplasm, Golgi membrane, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0015031, GO:0006891, GO:0006891, GO:0006890, GO:0006888, GO:0006888, protein transport, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 693 755 847 474 624 535 491 620 485 ENSG00000105671 chr19 18919675 18928633 + DDX49 protein_coding 54555 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, GO:0044357, GO:0030307, GO:0006364, GO:0006364, regulation of rRNA stability, positive regulation of cell growth, rRNA processing, rRNA processing, 125 125 137 185 222 164 140 154 125 ENSG00000105672 chr19 35641745 35644871 + ETV2 protein_coding 2116 GO:0005634, nucleus, GO:1990837, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000382, GO:0060803, GO:0048514, GO:0045944, GO:0045603, GO:0030218, GO:0030154, GO:0016055, GO:0007219, GO:0006357, GO:0001890, GO:0001824, positive regulation of mesoderm development, BMP signaling pathway involved in mesodermal cell fate specification, blood vessel morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of endothelial cell differentiation, erythrocyte differentiation, cell differentiation, Wnt signaling pathway, Notch signaling pathway, regulation of transcription by RNA polymerase II, placenta development, blastocyst development, 0 0 0 5 7 6 4 1 0 ENSG00000105675 chr19 35550043 35563658 - ATP4A protein_coding The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]. 495 GO:0005887, GO:0005886, GO:0005615, integral component of plasma membrane, plasma membrane, extracellular space, GO:0008900, GO:0005524, GO:0005391, GO:0000287, potassium:proton exchanging ATPase activity, ATP binding, sodium:potassium-exchanging ATPase activity, magnesium ion binding, GO:1990573, GO:1902600, GO:0036376, GO:0034220, GO:0030007, GO:0010248, GO:0006883, potassium ion import across plasma membrane, proton transmembrane transport, sodium ion export across plasma membrane, ion transmembrane transport, cellular potassium ion homeostasis, establishment or maintenance of transmembrane electrochemical gradient, cellular sodium ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000105676 chr19 19033575 19060311 + ARMC6 protein_coding The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 93436 GO:0005829, cytosol, GO:0002244, hematopoietic progenitor cell differentiation, 32 46 26 41 43 91 31 28 31 ENSG00000105677 chr19 35545595 35547526 + TMEM147 protein_coding 10430 GO:0032991, GO:0016021, GO:0005886, GO:0005789, protein-containing complex, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, 14 12 19 35 22 51 24 19 28 ENSG00000105679 chr19 35533412 35545316 + GAPDHS protein_coding This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]. 26330 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0051287, GO:0050661, GO:0005515, GO:0004365, GO:0004365, NAD binding, NADP binding, protein binding, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity, GO:0061621, GO:0045821, GO:0030317, GO:0006096, GO:0006094, canonical glycolysis, positive regulation of glycolytic process, flagellated sperm motility, glycolytic process, gluconeogenesis, 3 2 0 1 0 6 3 0 0 ENSG00000105694 chr19 2538112 2538754 + ELOCP28 processed_pseudogene 0 0 0 0 0 1 0 0 1 ENSG00000105695 chr19 35292125 35313804 + MAG protein_coding The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010]. 4099 GO:0097453, GO:0045121, GO:0043220, GO:0043218, GO:0043209, GO:0035749, GO:0033270, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, mesaxon, membrane raft, Schmidt-Lanterman incisure, compact myelin, myelin sheath, myelin sheath adaxonal region, paranode region of axon, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:1905576, GO:0042803, GO:0033691, GO:0033691, GO:0030246, GO:0019901, GO:0005102, ganglioside GT1b binding, protein homodimerization activity, sialic acid binding, sialic acid binding, carbohydrate binding, protein kinase binding, signaling receptor binding, GO:0098742, GO:0071260, GO:0050900, GO:0050771, GO:0048711, GO:0043524, GO:0031643, GO:0031103, GO:0030517, GO:0022010, GO:0019226, GO:0010977, GO:0007155, GO:0007155, cell-cell adhesion via plasma-membrane adhesion molecules, cellular response to mechanical stimulus, leukocyte migration, negative regulation of axonogenesis, positive regulation of astrocyte differentiation, negative regulation of neuron apoptotic process, positive regulation of myelination, axon regeneration, negative regulation of axon extension, central nervous system myelination, transmission of nerve impulse, negative regulation of neuron projection development, cell adhesion, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000105696 chr19 18607430 18621039 + TMEM59L protein_coding This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008]. 25789 GO:0016021, GO:0016020, GO:0000139, integral component of membrane, membrane, Golgi membrane, 0 0 0 0 0 0 0 0 0 ENSG00000105697 chr19 35280716 35285143 + HAMP protein_coding The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]. 57817 GO:0045179, GO:0014704, GO:0005615, GO:0005576, apical cortex, intercalated disc, extracellular space, extracellular region, GO:0005179, hormone activity, GO:1990641, GO:1904479, GO:1903413, GO:0097421, GO:0071481, GO:0071356, GO:0071354, GO:0071222, GO:0061051, GO:0060586, GO:0050832, GO:0045471, GO:0042742, GO:0036017, GO:0034760, GO:0033189, GO:0031640, GO:0010043, GO:0010039, GO:0007568, GO:0007165, GO:0006955, GO:0006953, GO:0006879, GO:0006879, GO:0000122, response to iron ion starvation, negative regulation of intestinal absorption, cellular response to bile acid, liver regeneration, cellular response to X-ray, cellular response to tumor necrosis factor, cellular response to interleukin-6, cellular response to lipopolysaccharide, positive regulation of cell growth involved in cardiac muscle cell development, multicellular organismal iron ion homeostasis, defense response to fungus, response to ethanol, defense response to bacterium, response to erythropoietin, negative regulation of iron ion transmembrane transport, response to vitamin A, killing of cells of other organism, response to zinc ion, response to iron ion, aging, signal transduction, immune response, acute-phase response, cellular iron ion homeostasis, cellular iron ion homeostasis, negative regulation of transcription by RNA polymerase II, 0 0 1 1 1 0 1 0 0 ENSG00000105698 chr19 35268978 35279821 + USF2 protein_coding This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016]. 7392 GO:0043231, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0046982, GO:0043565, GO:0043425, GO:0042803, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein heterodimerization activity, sequence-specific DNA binding, bHLH transcription factor binding, protein homodimerization activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0055088, GO:0045944, GO:0019086, GO:0007595, GO:0006357, GO:0000432, GO:0000432, GO:0000430, lipid homeostasis, positive regulation of transcription by RNA polymerase II, late viral transcription, lactation, regulation of transcription by RNA polymerase II, positive regulation of transcription from RNA polymerase II promoter by glucose, positive regulation of transcription from RNA polymerase II promoter by glucose, regulation of transcription from RNA polymerase II promoter by glucose, 1217 1226 1262 816 1068 892 817 826 734 ENSG00000105699 chr19 35248330 35267964 + LSR protein_coding 51599 GO:0070062, GO:0061689, GO:0042627, GO:0034362, GO:0034361, GO:0016021, GO:0005886, extracellular exosome, tricellular tight junction, chylomicron, low-density lipoprotein particle, very-low-density lipoprotein particle, integral component of membrane, plasma membrane, GO:1904274, GO:0061833, GO:0061436, GO:0060856, GO:0035633, GO:0019216, GO:0001889, tricellular tight junction assembly, protein localization to tricellular tight junction, establishment of skin barrier, establishment of blood-brain barrier, maintenance of blood-brain barrier, regulation of lipid metabolic process, liver development, 32 20 45 63 19 37 47 14 24 ENSG00000105700 chr19 18557762 18569387 + KXD1 protein_coding 79036 GO:0099078, GO:0099078, GO:0031083, GO:0031083, GO:0005765, BORC complex, BORC complex, BLOC-1 complex, BLOC-1 complex, lysosomal membrane, GO:0005515, protein binding, GO:0032418, GO:0032418, GO:0016192, lysosome localization, lysosome localization, vesicle-mediated transport, 691 763 719 1067 1373 1206 1122 1065 840 ENSG00000105701 chr19 18531751 18544077 - FKBP8 protein_coding The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]. 23770 GO:0032991, GO:0031966, GO:0030176, GO:0016020, GO:0005829, GO:0005783, GO:0005739, protein-containing complex, mitochondrial membrane, integral component of endoplasmic reticulum membrane, membrane, cytosol, endoplasmic reticulum, mitochondrion, GO:0097718, GO:0046872, GO:0044183, GO:0042802, GO:0005515, GO:0003755, disordered domain specific binding, metal ion binding, protein folding chaperone, identical protein binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, GO:0043066, GO:0043010, GO:0035556, GO:0035264, GO:0030513, GO:0021904, GO:0016032, GO:0010468, GO:0007224, GO:0006915, GO:0006457, GO:0001933, GO:0001708, GO:0000413, negative regulation of apoptotic process, camera-type eye development, intracellular signal transduction, multicellular organism growth, positive regulation of BMP signaling pathway, dorsal/ventral neural tube patterning, viral process, regulation of gene expression, smoothened signaling pathway, apoptotic process, protein folding, negative regulation of protein phosphorylation, cell fate specification, protein peptidyl-prolyl isomerization, 6169 6722 7385 1858 4340 2818 2727 4349 2897 ENSG00000105705 chr19 19276018 19320844 - SUGP1 protein_coding SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]. 57794 GO:0005681, GO:0005654, GO:0005654, spliceosomal complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0000398, mRNA splicing, via spliceosome, 202 186 209 192 219 202 149 207 126 ENSG00000105707 chr19 35040506 35066571 + HPN protein_coding This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 3249 GO:0070062, GO:0043025, GO:0031965, GO:0016324, GO:0016021, GO:0009986, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005789, extracellular exosome, neuronal cell body, nuclear membrane, apical plasma membrane, integral component of membrane, cell surface, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0070008, GO:0008236, GO:0008233, GO:0005515, GO:0004252, serine-type exopeptidase activity, serine-type peptidase activity, peptidase activity, protein binding, serine-type endopeptidase activity, GO:2000611, GO:2000347, GO:0097195, GO:0097066, GO:0090103, GO:0071805, GO:0050910, GO:0050680, GO:0048012, GO:0043923, GO:0043066, GO:0034769, GO:0030307, GO:0010756, GO:0010719, GO:0010719, GO:0010628, GO:0008360, GO:0008360, GO:0006508, positive regulation of thyroid hormone generation, positive regulation of hepatocyte proliferation, pilomotor reflex, response to thyroid hormone, cochlea morphogenesis, potassium ion transmembrane transport, detection of mechanical stimulus involved in sensory perception of sound, negative regulation of epithelial cell proliferation, hepatocyte growth factor receptor signaling pathway, positive regulation by host of viral transcription, negative regulation of apoptotic process, basement membrane disassembly, positive regulation of cell growth, positive regulation of plasminogen activation, negative regulation of epithelial to mesenchymal transition, negative regulation of epithelial to mesenchymal transition, positive regulation of gene expression, regulation of cell shape, regulation of cell shape, proteolysis, 3 5 7 4 9 4 4 2 3 ENSG00000105708 chr19 19710471 19733097 - ZNF14 protein_coding The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins. [provided by RefSeq, Jul 2008]. 7561 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 75 47 73 65 61 123 62 65 40 ENSG00000105711 chr19 35030466 35040449 + SCN1B protein_coding Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 6324 GO:0043204, GO:0033268, GO:0030315, GO:0014704, GO:0005887, GO:0005886, GO:0005576, GO:0001518, GO:0001518, perikaryon, node of Ranvier, T-tubule, intercalated disc, integral component of plasma membrane, plasma membrane, extracellular region, voltage-gated sodium channel complex, voltage-gated sodium channel complex, GO:0086062, GO:0086006, GO:0044325, GO:0019871, GO:0019871, GO:0017080, GO:0005515, GO:0005248, GO:0005244, voltage-gated sodium channel activity involved in Purkinje myocyte action potential, voltage-gated sodium channel activity involved in cardiac muscle cell action potential, ion channel binding, sodium channel inhibitor activity, sodium channel inhibitor activity, sodium channel regulator activity, protein binding, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:2000649, GO:2000649, GO:1905150, GO:0086091, GO:0086091, GO:0086047, GO:0086012, GO:0086002, GO:0086002, GO:0061337, GO:0061337, GO:0060371, GO:0060307, GO:0060048, GO:0051899, GO:0046684, GO:0040011, GO:0035725, GO:0021966, GO:0019227, GO:0010976, GO:0010765, GO:0007411, GO:0007155, regulation of sodium ion transmembrane transporter activity, regulation of sodium ion transmembrane transporter activity, regulation of voltage-gated sodium channel activity, regulation of heart rate by cardiac conduction, regulation of heart rate by cardiac conduction, membrane depolarization during Purkinje myocyte cell action potential, membrane depolarization during cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, cardiac muscle cell action potential involved in contraction, cardiac conduction, cardiac conduction, regulation of atrial cardiac muscle cell membrane depolarization, regulation of ventricular cardiac muscle cell membrane repolarization, cardiac muscle contraction, membrane depolarization, response to pyrethroid, locomotion, sodium ion transmembrane transport, corticospinal neuron axon guidance, neuronal action potential propagation, positive regulation of neuron projection development, positive regulation of sodium ion transport, axon guidance, cell adhesion, 111 93 127 208 166 169 199 140 176 ENSG00000105717 chr19 19561707 19618916 - PBX4 protein_coding This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]. 80714 GO:0005634, GO:0001741, GO:0000785, GO:0000785, nucleus, XY body, chromatin, chromatin, GO:0043565, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048666, GO:0048568, GO:0045893, GO:0009887, GO:0007420, GO:0006357, GO:0001654, neuron development, embryonic organ development, positive regulation of transcription, DNA-templated, animal organ morphogenesis, brain development, regulation of transcription by RNA polymerase II, eye development, 7 16 66 30 11 44 39 5 33 ENSG00000105722 chr19 42247572 42255157 - ERF protein_coding ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. 2077 GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0043565, GO:0005515, GO:0001227, GO:0000981, GO:0000981, sequence-specific DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0030154, GO:0006357, GO:0000122, cell differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 4042 3871 4044 3516 5601 4999 3863 3622 4008 ENSG00000105723 chr19 42230186 42242625 - GSK3A protein_coding This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]. 2931 GO:1990635, GO:0098794, GO:0097440, GO:0043025, GO:0030877, GO:0030877, GO:0030424, GO:0005874, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005634, proximal dendrite, postsynapse, apical dendrite, neuronal cell body, beta-catenin destruction complex, beta-catenin destruction complex, axon, microtubule, cytosol, cytosol, mitochondrion, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0050321, GO:0050321, GO:0048156, GO:0034236, GO:0005524, GO:0005515, GO:0005102, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, protein kinase A catalytic subunit binding, ATP binding, protein binding, signaling receptor binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000467, GO:2000466, GO:2000171, GO:2000077, GO:1904227, GO:1903955, GO:1903146, GO:1902004, GO:1902004, GO:1901030, GO:0106071, GO:0097192, GO:0097192, GO:0097191, GO:0090090, GO:0090090, GO:0071879, GO:0071285, GO:0061052, GO:0060079, GO:0046627, GO:0046325, GO:0045944, GO:0045823, GO:0045732, GO:0045719, GO:0044027, GO:0043525, GO:0043161, GO:0036498, GO:0036016, GO:0033138, GO:0032869, GO:0032436, GO:0032007, GO:0032007, GO:0031398, GO:0018107, GO:0018105, GO:0016477, GO:0016055, GO:0010975, GO:0010905, GO:0010800, GO:0010628, GO:0010508, GO:0008286, GO:0008286, GO:0007568, GO:0007212, GO:0007165, GO:0006468, GO:0006349, GO:0005977, GO:0003214, GO:0003073, positive regulation of glycogen (starch) synthase activity, negative regulation of glycogen (starch) synthase activity, negative regulation of dendrite development, negative regulation of type B pancreatic cell development, negative regulation of glycogen synthase activity, transferring glucose-1-phosphate, positive regulation of protein targeting to mitochondrion, regulation of autophagy of mitochondrion, positive regulation of amyloid-beta formation, positive regulation of amyloid-beta formation, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway, cellular response to lithium ion, negative regulation of cell growth involved in cardiac muscle cell development, excitatory postsynaptic potential, negative regulation of insulin receptor signaling pathway, negative regulation of glucose import, positive regulation of transcription by RNA polymerase II, positive regulation of heart contraction, positive regulation of protein catabolic process, negative regulation of glycogen biosynthetic process, hypermethylation of CpG island, positive regulation of neuron apoptotic process, proteasome-mediated ubiquitin-dependent protein catabolic process, IRE1-mediated unfolded protein response, cellular response to interleukin-3, positive regulation of peptidyl-serine phosphorylation, cellular response to insulin stimulus, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of TOR signaling, negative regulation of TOR signaling, positive regulation of protein ubiquitination, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, cell migration, Wnt signaling pathway, regulation of neuron projection development, negative regulation of UDP-glucose catabolic process, positive regulation of peptidyl-threonine phosphorylation, positive regulation of gene expression, positive regulation of autophagy, insulin receptor signaling pathway, insulin receptor signaling pathway, aging, dopamine receptor signaling pathway, signal transduction, protein phosphorylation, regulation of gene expression by genetic imprinting, glycogen metabolic process, cardiac left ventricle morphogenesis, regulation of systemic arterial blood pressure, 751 683 831 423 543 483 486 462 344 ENSG00000105726 chr19 19645198 19663693 - ATP13A1 protein_coding 57130 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0046872, GO:0016887, GO:0015410, GO:0005524, GO:0003674, metal ion binding, ATPase activity, manganese transmembrane transporter activity, phosphorylative mechanism, ATP binding, molecular_function, GO:0071421, GO:0034220, GO:0008150, GO:0006874, manganese ion transmembrane transport, ion transmembrane transport, biological_process, cellular calcium ion homeostasis, 110 130 144 171 165 170 172 120 160 ENSG00000105732 chr19 42068477 42081549 + ZNF574 protein_coding 64763 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 64 73 132 28 44 72 37 33 67 ENSG00000105737 chr19 41998321 42069498 - GRIK5 protein_coding This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 2901 GO:0099056, GO:0098978, GO:0098686, GO:0045211, GO:0043204, GO:0043195, GO:0032983, GO:0030425, GO:0014069, GO:0005886, GO:0005886, GO:0005886, GO:0005783, GO:0005654, integral component of presynaptic membrane, glutamatergic synapse, hippocampal mossy fiber to CA3 synapse, postsynaptic membrane, perikaryon, terminal bouton, kainate selective glutamate receptor complex, dendrite, postsynaptic density, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, nucleoplasm, GO:1904315, GO:0042802, GO:0038023, GO:0030165, GO:0017124, GO:0015277, GO:0015276, GO:0008066, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, identical protein binding, signaling receptor activity, PDZ domain binding, SH3 domain binding, kainate selective glutamate receptor activity, ligand-gated ion channel activity, glutamate receptor activity, GO:0071333, GO:0060079, GO:0051649, GO:0050804, GO:0043525, GO:0043113, GO:0035249, GO:0035235, GO:0034220, GO:0031630, GO:0006621, cellular response to glucose stimulus, excitatory postsynaptic potential, establishment of localization in cell, modulation of chemical synaptic transmission, positive regulation of neuron apoptotic process, receptor clustering, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, regulation of synaptic vesicle fusion to presynaptic active zone membrane, protein retention in ER lumen, 1 0 4 0 0 0 0 0 4 ENSG00000105738 chr19 37907228 38208372 + SIPA1L3 protein_coding This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]. 23094 GO:0061689, GO:0045177, GO:0016324, GO:0005886, GO:0005886, GO:0005794, GO:0005794, GO:0005737, GO:0005654, GO:0005615, GO:0001725, tricellular tight junction, apical part of cell, apical plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, cytoplasm, nucleoplasm, extracellular space, stress fiber, GO:0005515, GO:0005096, GO:0005096, protein binding, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0090162, GO:0090162, GO:0051056, GO:0043547, GO:0007010, GO:0003382, GO:0003382, GO:0002244, GO:0001654, activation of GTPase activity, establishment of epithelial cell polarity, establishment of epithelial cell polarity, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, cytoskeleton organization, epithelial cell morphogenesis, epithelial cell morphogenesis, hematopoietic progenitor cell differentiation, eye development, 120 149 147 60 100 71 51 68 108 ENSG00000105750 chr19 20923222 20950697 + ZNF85 protein_coding 7639 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000978, GO:0000978, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006355, GO:0000122, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000105755 chr19 43506719 43527244 - ETHE1 protein_coding This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. 23474 GO:0005759, GO:0005739, GO:0005739, GO:0005737, GO:0005654, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, nucleoplasm, GO:0050313, GO:0050313, GO:0042802, GO:0016788, GO:0005515, GO:0005506, sulfur dioxygenase activity, sulfur dioxygenase activity, identical protein binding, hydrolase activity, acting on ester bonds, protein binding, iron ion binding, GO:0070813, GO:0070813, GO:0070221, GO:0006749, GO:0006749, hydrogen sulfide metabolic process, hydrogen sulfide metabolic process, sulfide oxidation, using sulfide:quinone oxidoreductase, glutathione metabolic process, glutathione metabolic process, 7 6 20 15 13 19 28 14 23 ENSG00000105767 chr19 43622368 43639839 - CADM4 protein_coding 199731 GO:0044291, GO:0031252, GO:0016021, cell-cell contact zone, cell leading edge, integral component of membrane, GO:0043184, GO:0043183, GO:0030971, GO:0019903, vascular endothelial growth factor receptor 2 binding, vascular endothelial growth factor receptor 1 binding, receptor tyrosine kinase binding, protein phosphatase binding, GO:2000145, GO:1900747, GO:0061041, GO:0050732, GO:0042127, GO:0035020, GO:0030948, GO:0010801, GO:0007155, GO:0001933, GO:0001932, regulation of cell motility, negative regulation of vascular endothelial growth factor signaling pathway, regulation of wound healing, negative regulation of peptidyl-tyrosine phosphorylation, regulation of cell population proliferation, regulation of Rac protein signal transduction, negative regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of peptidyl-threonine phosphorylation, cell adhesion, negative regulation of protein phosphorylation, regulation of protein phosphorylation, 77 83 109 34 71 50 44 49 48 ENSG00000105771 chr19 43727992 43754990 - SMG9 protein_coding This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]. 56006 GO:0005829, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0007507, GO:0007420, GO:0001654, GO:0000184, GO:0000184, GO:0000184, heart development, brain development, eye development, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 119 82 194 105 82 115 109 69 87 ENSG00000105778 chr7 32495426 32588721 + AVL9 protein_coding 23080 GO:0055037, GO:0016021, GO:0005737, recycling endosome, integral component of membrane, cytoplasm, GO:0016477, cell migration, 567 585 622 463 757 569 483 522 412 ENSG00000105784 chr7 87627548 87832296 + RUNDC3B protein_coding 154661 0 1 1 1 1 3 0 0 0 ENSG00000105792 chr7 90245174 90311063 + CFAP69 protein_coding 79846 GO:0097730, GO:0097730, GO:0097225, GO:0097225, GO:0005737, non-motile cilium, non-motile cilium, sperm midpiece, sperm midpiece, cytoplasm, GO:1990834, GO:1990834, GO:1905516, GO:1902093, GO:1902093, GO:0042048, GO:0042048, GO:0030317, GO:0007608, GO:0007288, response to odorant, response to odorant, positive regulation of fertilization, positive regulation of flagellated sperm motility, positive regulation of flagellated sperm motility, olfactory behavior, olfactory behavior, flagellated sperm motility, sensory perception of smell, sperm axoneme assembly, 0 0 0 0 0 0 1 0 0 ENSG00000105793 chr7 90335223 90391455 + GTPBP10 protein_coding Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]. 85865 GO:0005730, GO:0005694, nucleolus, chromosome, GO:0005525, GO:0005515, GO:0003723, GTP binding, protein binding, RNA binding, GO:0042254, ribosome biogenesis, 54 44 54 51 51 79 41 49 65 ENSG00000105808 chr7 102573807 102616757 - RASA4 protein_coding This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10156 GO:0005886, GO:0005829, GO:0005829, plasma membrane, cytosol, cytosol, GO:0046872, GO:0005543, GO:0005096, metal ion binding, phospholipid binding, GTPase activator activity, GO:0071277, GO:0046580, GO:0043547, GO:0034260, GO:0034260, GO:0000165, cellular response to calcium ion, negative regulation of Ras protein signal transduction, positive regulation of GTPase activity, negative regulation of GTPase activity, negative regulation of GTPase activity, MAPK cascade, 1 3 1 5 5 0 0 8 3 ENSG00000105810 chr7 92604921 92836594 - CDK6 protein_coding The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]. 1021 GO:0097132, GO:0016592, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001726, GO:0000307, cyclin D2-CDK6 complex, mediator complex, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, ruffle, cyclin-dependent protein kinase holoenzyme complex, GO:0098770, GO:0030332, GO:0008353, GO:0005524, GO:0005515, GO:0004693, GO:0004693, FBXO family protein binding, cyclin binding, RNA polymerase II CTD heptapeptide repeat kinase activity, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, GO:2000773, GO:2000145, GO:2000134, GO:0060218, GO:0051726, GO:0051301, GO:0050680, GO:0048699, GO:0048146, GO:0045786, GO:0045668, GO:0045656, GO:0045646, GO:0045638, GO:0045596, GO:0043697, GO:0042063, GO:0033077, GO:0021670, GO:0021542, GO:0014002, GO:0010628, GO:0010468, GO:0010468, GO:0009615, GO:0008285, GO:0007219, GO:0007050, GO:0006468, GO:0006468, GO:0003323, GO:0001954, GO:0000122, GO:0000082, negative regulation of cellular senescence, regulation of cell motility, negative regulation of G1/S transition of mitotic cell cycle, hematopoietic stem cell differentiation, regulation of cell cycle, cell division, negative regulation of epithelial cell proliferation, generation of neurons, positive regulation of fibroblast proliferation, negative regulation of cell cycle, negative regulation of osteoblast differentiation, negative regulation of monocyte differentiation, regulation of erythrocyte differentiation, negative regulation of myeloid cell differentiation, negative regulation of cell differentiation, cell dedifferentiation, gliogenesis, T cell differentiation in thymus, lateral ventricle development, dentate gyrus development, astrocyte development, positive regulation of gene expression, regulation of gene expression, regulation of gene expression, response to virus, negative regulation of cell population proliferation, Notch signaling pathway, cell cycle arrest, protein phosphorylation, protein phosphorylation, type B pancreatic cell development, positive regulation of cell-matrix adhesion, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 89 69 137 231 65 257 224 44 137 ENSG00000105819 chr7 103297422 103329511 + PMPCB protein_coding This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]. 9512 GO:0017087, GO:0005743, GO:0005739, GO:0005739, mitochondrial processing peptidase complex, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0046872, GO:0004222, GO:0004222, GO:0004222, metal ion binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0006851, GO:0006627, GO:0006627, mitochondrial calcium ion transmembrane transport, protein processing involved in protein targeting to mitochondrion, protein processing involved in protein targeting to mitochondrion, 203 204 337 209 195 247 165 181 180 ENSG00000105821 chr7 103312474 103344873 - DNAJC2 protein_coding This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]. 27000 GO:0031965, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, nuclear membrane, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0061649, GO:0042393, GO:0030544, GO:0005515, GO:0003723, GO:0003682, ubiquitin modification-dependent histone binding, histone binding, Hsp70 protein binding, protein binding, RNA binding, chromatin binding, GO:2000279, GO:1900034, GO:0051083, GO:0045893, GO:0006325, GO:0006260, negative regulation of DNA biosynthetic process, regulation of cellular response to heat, 'de novo' cotranslational protein folding, positive regulation of transcription, DNA-templated, chromatin organization, DNA replication, 77 54 112 173 81 143 127 82 83 ENSG00000105825 chr7 93885396 93890991 - TFPI2 protein_coding This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 7980 GO:0031012, GO:0005615, extracellular matrix, extracellular space, GO:0005201, GO:0004867, extracellular matrix structural constituent, serine-type endopeptidase inhibitor activity, GO:0071498, GO:0010951, GO:0007596, cellular response to fluid shear stress, negative regulation of endopeptidase activity, blood coagulation, 0 0 0 0 0 0 0 0 0 ENSG00000105829 chr7 93962762 94004382 - BET1 protein_coding This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 10282 GO:0033116, GO:0031201, GO:0030173, GO:0030133, GO:0016020, GO:0005789, GO:0000139, GO:0000138, endoplasmic reticulum-Golgi intermediate compartment membrane, SNARE complex, integral component of Golgi membrane, transport vesicle, membrane, endoplasmic reticulum membrane, Golgi membrane, Golgi trans cisterna, GO:0005515, GO:0005484, protein binding, SNAP receptor activity, GO:0048280, GO:0048208, GO:0015031, GO:0006888, GO:0006888, vesicle fusion with Golgi apparatus, COPII vesicle coating, protein transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 23 20 35 44 25 46 25 24 15 ENSG00000105835 chr7 106248285 106286326 - NAMPT protein_coding This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011]. 10135 GO:0070062, GO:0030054, GO:0016607, GO:0005886, GO:0005829, extracellular exosome, cell junction, nuclear speck, plasma membrane, cytosol, GO:0047280, GO:0042802, GO:0008144, GO:0005515, GO:0005125, GO:0004514, nicotinamide phosphoribosyltransferase activity, identical protein binding, drug binding, protein binding, cytokine activity, nicotinate-nucleotide diphosphorylase (carboxylating) activity, GO:2000773, GO:1905377, GO:1904646, GO:0090650, GO:0071479, GO:0070997, GO:0060612, GO:0051770, GO:0048661, GO:0045944, GO:0034356, GO:0032922, GO:0014916, GO:0014070, GO:0010507, GO:0008286, GO:0008284, GO:0007623, GO:0007568, GO:0007565, GO:0007267, GO:0007165, GO:0001774, negative regulation of cellular senescence, response to D-galactose, cellular response to amyloid-beta, cellular response to oxygen-glucose deprivation, cellular response to ionizing radiation, neuron death, adipose tissue development, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of smooth muscle cell proliferation, positive regulation of transcription by RNA polymerase II, NAD biosynthesis via nicotinamide riboside salvage pathway, circadian regulation of gene expression, regulation of lung blood pressure, response to organic cyclic compound, negative regulation of autophagy, insulin receptor signaling pathway, positive regulation of cell population proliferation, circadian rhythm, aging, female pregnancy, cell-cell signaling, signal transduction, microglial cell activation, 176045 158518 213687 123984 153886 172341 152255 120445 136198 ENSG00000105849 chr7 19695462 19709087 - TWISTNB protein_coding 221830 GO:0005736, GO:0005654, RNA polymerase I complex, nucleoplasm, GO:0003899, DNA-directed 5'-3' RNA polymerase activity, GO:1990830, GO:0045815, GO:0006363, GO:0006362, GO:0006361, cellular response to leukemia inhibitory factor, positive regulation of gene expression, epigenetic, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, 113 53 139 394 106 431 402 105 350 ENSG00000105851 chr7 106865278 106907145 + PIK3CG protein_coding Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]. 5294 GO:0016020, GO:0016020, GO:0016020, GO:0005944, GO:0005944, GO:0005943, GO:0005942, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, membrane, membrane, membrane, phosphatidylinositol 3-kinase complex, class IB, phosphatidylinositol 3-kinase complex, class IB, phosphatidylinositol 3-kinase complex, class IA, phosphatidylinositol 3-kinase complex, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0052812, GO:0052742, GO:0046934, GO:0046875, GO:0042802, GO:0035005, GO:0035005, GO:0035004, GO:0016303, GO:0016303, GO:0016301, GO:0005524, GO:0005515, GO:0004672, protein threonine kinase activity, protein serine kinase activity, phosphatidylinositol-3,4-bisphosphate 5-kinase activity, phosphatidylinositol kinase activity, phosphatidylinositol-4,5-bisphosphate 3-kinase activity, ephrin receptor binding, identical protein binding, 1-phosphatidylinositol-4-phosphate 3-kinase activity, 1-phosphatidylinositol-4-phosphate 3-kinase activity, phosphatidylinositol 3-kinase activity, 1-phosphatidylinositol-3-kinase activity, 1-phosphatidylinositol-3-kinase activity, kinase activity, ATP binding, protein binding, protein kinase activity, GO:2000270, GO:1903169, GO:0097284, GO:0072672, GO:0071320, GO:0070527, GO:0055118, GO:0051897, GO:0048015, GO:0046854, GO:0045087, GO:0043406, GO:0043303, GO:0042110, GO:0042098, GO:0036092, GO:0035747, GO:0035022, GO:0033628, GO:0032252, GO:0030593, GO:0030168, GO:0016477, GO:0016310, GO:0014068, GO:0014065, GO:0014065, GO:0014065, GO:0014065, GO:0010897, GO:0010818, GO:0010595, GO:0007204, GO:0007186, GO:0006954, GO:0006897, GO:0006661, GO:0006468, GO:0003376, GO:0002679, GO:0002675, GO:0002407, GO:0002250, GO:0001816, GO:0001525, negative regulation of fibroblast apoptotic process, regulation of calcium ion transmembrane transport, hepatocyte apoptotic process, neutrophil extravasation, cellular response to cAMP, platelet aggregation, negative regulation of cardiac muscle contraction, positive regulation of protein kinase B signaling, phosphatidylinositol-mediated signaling, phosphatidylinositol phosphorylation, innate immune response, positive regulation of MAP kinase activity, mast cell degranulation, T cell activation, T cell proliferation, phosphatidylinositol-3-phosphate biosynthetic process, natural killer cell chemotaxis, positive regulation of Rac protein signal transduction, regulation of cell adhesion mediated by integrin, secretory granule localization, neutrophil chemotaxis, platelet activation, cell migration, phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, negative regulation of triglyceride catabolic process, T cell chemotaxis, positive regulation of endothelial cell migration, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, inflammatory response, endocytosis, phosphatidylinositol biosynthetic process, protein phosphorylation, sphingosine-1-phosphate receptor signaling pathway, respiratory burst involved in defense response, positive regulation of acute inflammatory response, dendritic cell chemotaxis, adaptive immune response, cytokine production, angiogenesis, 809 922 1257 228 592 479 342 468 508 ENSG00000105852 chr7 95359944 95396368 - PON3 protein_coding This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008]. 5446 GO:0070062, GO:0043231, GO:0005615, GO:0005576, extracellular exosome, intracellular membrane-bounded organelle, extracellular space, extracellular region, GO:0102007, GO:0046872, GO:0042803, GO:0018733, GO:0004064, GO:0004064, GO:0004064, GO:0004063, acyl-L-homoserine-lactone lactonohydrolase activity, metal ion binding, protein homodimerization activity, 3,4-dihydrocoumarin hydrolase activity, arylesterase activity, arylesterase activity, arylesterase activity, aryldialkylphosphatase activity, GO:0046395, GO:0046226, GO:0032929, GO:0019439, GO:0019372, GO:0016311, GO:0010124, GO:0009636, carboxylic acid catabolic process, coumarin catabolic process, negative regulation of superoxide anion generation, aromatic compound catabolic process, lipoxygenase pathway, dephosphorylation, phenylacetate catabolic process, response to toxic substance, 0 0 0 0 0 0 0 0 0 ENSG00000105854 chr7 95404863 95435329 - PON2 protein_coding This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 5445 GO:0005886, GO:0005764, GO:0005739, GO:0005634, GO:0005576, plasma membrane, lysosome, mitochondrion, nucleus, extracellular region, GO:0102007, GO:0046872, GO:0042802, GO:0004064, acyl-L-homoserine-lactone lactonohydrolase activity, metal ion binding, identical protein binding, arylesterase activity, GO:0019439, GO:0019372, GO:0009636, GO:0006979, aromatic compound catabolic process, lipoxygenase pathway, response to toxic substance, response to oxidative stress, 9 3 6 4 8 9 7 7 17 ENSG00000105855 chr7 20330702 20415754 + ITGB8 protein_coding This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 3696 GO:0070062, GO:0034686, GO:0009986, GO:0009986, GO:0008305, GO:0008305, GO:0005925, GO:0005886, extracellular exosome, integrin alphav-beta8 complex, cell surface, cell surface, integrin complex, integrin complex, focal adhesion, plasma membrane, GO:1990430, GO:0038023, GO:0005178, extracellular matrix protein binding, signaling receptor activity, integrin binding, GO:1901388, GO:0060674, GO:0051216, GO:0045766, GO:0033627, GO:0030198, GO:0016477, GO:0010629, GO:0010628, GO:0007229, GO:0007160, GO:0007155, GO:0001573, GO:0001570, regulation of transforming growth factor beta activation, placenta blood vessel development, cartilage development, positive regulation of angiogenesis, cell adhesion mediated by integrin, extracellular matrix organization, cell migration, negative regulation of gene expression, positive regulation of gene expression, integrin-mediated signaling pathway, cell-matrix adhesion, cell adhesion, ganglioside metabolic process, vasculogenesis, 1 4 4 11 6 1 4 4 2 ENSG00000105856 chr7 107168961 107202529 + HBP1 protein_coding 26959 GO:0016607, GO:0005654, GO:0005634, GO:0000785, nuclear speck, nucleoplasm, nucleus, chromatin, GO:0005515, GO:0003723, GO:0000981, GO:0000981, GO:0000978, protein binding, RNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0016055, GO:0007050, GO:0006357, Wnt signaling pathway, cell cycle arrest, regulation of transcription by RNA polymerase II, 3661 4194 4812 3405 4117 4471 3297 2775 3011 ENSG00000105865 chr7 107563484 107578464 + DUS4L protein_coding 11062 GO:0050660, GO:0017150, flavin adenine dinucleotide binding, tRNA dihydrouridine synthase activity, GO:0055114, GO:0002943, oxidation-reduction process, tRNA dihydrouridine synthesis, 10 14 17 17 2 26 8 13 3 ENSG00000105866 chr7 21428034 21514822 + SP4 protein_coding The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]. 6671 GO:0005829, GO:0005654, GO:0000785, GO:0000785, cytosol, nucleoplasm, chromatin, chromatin, GO:0046872, GO:0043565, GO:0042802, GO:0005515, GO:0000981, GO:0000981, GO:0000978, metal ion binding, sequence-specific DNA binding, identical protein binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 580 389 897 215 216 343 228 173 232 ENSG00000105875 chr7 135183839 135211534 - WDR91 protein_coding 29062 GO:0031902, GO:0031902, GO:0031901, GO:0031901, GO:0031313, GO:0031313, GO:0005829, late endosome membrane, late endosome membrane, early endosome membrane, early endosome membrane, extrinsic component of endosome membrane, extrinsic component of endosome membrane, cytosol, GO:0035014, GO:0035014, GO:0005515, phosphatidylinositol 3-kinase regulator activity, phosphatidylinositol 3-kinase regulator activity, protein binding, GO:1903362, GO:0045022, GO:0045022, GO:0043551, GO:0043551, GO:0006511, regulation of cellular protein catabolic process, early endosome to late endosome transport, early endosome to late endosome transport, regulation of phosphatidylinositol 3-kinase activity, regulation of phosphatidylinositol 3-kinase activity, ubiquitin-dependent protein catabolic process, 423 489 458 345 532 380 460 316 320 ENSG00000105877 chr7 21543215 21901839 + DNAH11 protein_coding This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]. 8701 GO:0120134, GO:0097729, GO:0097729, GO:0097728, GO:0031514, GO:0031514, GO:0030286, GO:0005930, GO:0005930, GO:0005874, GO:0005576, proximal portion of axoneme, 9+2 motile cilium, 9+2 motile cilium, 9+0 motile cilium, motile cilium, motile cilium, dynein complex, axoneme, axoneme, microtubule, extracellular region, GO:0051959, GO:0045505, GO:0008569, GO:0005524, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, GO:0060411, GO:0060287, GO:0035545, GO:0030317, GO:0007611, GO:0007368, GO:0007018, GO:0003356, GO:0003341, cardiac septum morphogenesis, epithelial cilium movement involved in determination of left/right asymmetry, determination of left/right asymmetry in nervous system, flagellated sperm motility, learning or memory, determination of left/right symmetry, microtubule-based movement, regulation of cilium beat frequency, cilium movement, 6 17 4 11 22 3 7 10 11 ENSG00000105879 chr7 107743697 107761667 + CBLL1 protein_coding This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]. 79872 GO:0036396, GO:0016607, GO:0005829, GO:0005737, GO:0000151, RNA N6-methyladenosine methyltransferase complex, nuclear speck, cytosol, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0046872, GO:0042802, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, metal ion binding, identical protein binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0098609, GO:0080009, GO:0045807, GO:0035635, GO:0030335, GO:0030155, GO:0016567, GO:0016567, GO:0016567, GO:0007275, GO:0007162, cell-cell adhesion, mRNA methylation, positive regulation of endocytosis, entry of bacterium into host cell, positive regulation of cell migration, regulation of cell adhesion, protein ubiquitination, protein ubiquitination, protein ubiquitination, multicellular organism development, negative regulation of cell adhesion, 272 237 306 156 182 169 155 161 152 ENSG00000105880 chr7 97020392 97024950 - DLX5 protein_coding This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]. 1749 GO:0005737, GO:0000785, GO:0000785, GO:0000785, cytoplasm, chromatin, chromatin, chromatin, GO:1990837, GO:0071837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, HMG box domain binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901522, GO:0097376, GO:0090263, GO:0071773, GO:0060325, GO:0060166, GO:0060021, GO:0050679, GO:0048646, GO:0045893, GO:0042472, GO:0030855, GO:0030509, GO:0030326, GO:0030154, GO:0021889, GO:0009790, GO:0008283, GO:0007399, GO:0006357, GO:0001958, GO:0001649, GO:0001501, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, interneuron axon guidance, positive regulation of canonical Wnt signaling pathway, cellular response to BMP stimulus, face morphogenesis, olfactory pit development, roof of mouth development, positive regulation of epithelial cell proliferation, anatomical structure formation involved in morphogenesis, positive regulation of transcription, DNA-templated, inner ear morphogenesis, epithelial cell differentiation, BMP signaling pathway, embryonic limb morphogenesis, cell differentiation, olfactory bulb interneuron differentiation, embryo development, cell population proliferation, nervous system development, regulation of transcription by RNA polymerase II, endochondral ossification, osteoblast differentiation, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000105887 chr7 135926761 135977353 - MTPN protein_coding The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]. 136319 GO:0048471, GO:0030424, GO:0008290, GO:0005829, GO:0005737, GO:0005634, GO:0005634, perinuclear region of cytoplasm, axon, F-actin capping protein complex, cytosol, cytoplasm, nucleus, nucleus, GO:0043565, sequence-specific DNA binding, GO:2000812, GO:2000812, GO:0071260, GO:0051247, GO:0051146, GO:0051092, GO:0043403, GO:0030307, GO:0030182, GO:0021707, GO:0016202, GO:0010613, GO:0010557, GO:0008361, GO:0006584, GO:0006417, regulation of barbed-end actin filament capping, regulation of barbed-end actin filament capping, cellular response to mechanical stimulus, positive regulation of protein metabolic process, striated muscle cell differentiation, positive regulation of NF-kappaB transcription factor activity, skeletal muscle tissue regeneration, positive regulation of cell growth, neuron differentiation, cerebellar granule cell differentiation, regulation of striated muscle tissue development, positive regulation of cardiac muscle hypertrophy, positive regulation of macromolecule biosynthetic process, regulation of cell size, catecholamine metabolic process, regulation of translation, 2300 2247 3206 663 1388 1143 928 1340 1120 ENSG00000105889 chr7 22419444 22727613 - STEAP1B protein_coding 256227 GO:0016021, GO:0005886, GO:0005768, integral component of membrane, plasma membrane, endosome, GO:0005515, protein binding, 0 1 2 0 0 4 0 0 0 ENSG00000105894 chr7 137227341 137343865 - PTN protein_coding The protein encoded by this gene is a secreted heparin-binding growth factor. The protein has significant roles in cell growth and survival, cell migration, angiogenesis and tumorigenesis. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 5764 GO:0048471, GO:0032991, GO:0031594, GO:0009986, GO:0005886, GO:0005783, GO:0005615, GO:0005604, GO:0005576, perinuclear region of cytoplasm, protein-containing complex, neuromuscular junction, cell surface, plasma membrane, endoplasmic reticulum, extracellular space, basement membrane, extracellular region, GO:1904399, GO:0045545, GO:0038085, GO:0035374, GO:0035373, GO:0019901, GO:0008201, GO:0008083, GO:0008083, GO:0005515, GO:0005178, GO:0004864, heparan sulfate binding, syndecan binding, vascular endothelial growth factor binding, chondroitin sulfate binding, chondroitin sulfate proteoglycan binding, protein kinase binding, heparin binding, growth factor activity, growth factor activity, protein binding, integrin binding, protein phosphatase inhibitor activity, GO:2000738, GO:2000347, GO:2000036, GO:1990089, GO:1904397, GO:1904395, GO:1904391, GO:1904389, GO:1904373, GO:1903706, GO:1900272, GO:1900006, GO:0140059, GO:0072201, GO:0071456, GO:0071305, GO:0060291, GO:0060253, GO:0060221, GO:0051781, GO:0050680, GO:0048714, GO:0048714, GO:0048680, GO:0048477, GO:0048167, GO:0046697, GO:0045837, GO:0045778, GO:0045446, GO:0044849, GO:0043932, GO:0043113, GO:0043065, GO:0042493, GO:0042246, GO:0036120, GO:0034644, GO:0032570, GO:0032515, GO:0032355, GO:0031641, GO:0031104, GO:0030501, GO:0030336, GO:0030324, GO:0030282, GO:0021794, GO:0021549, GO:0021510, GO:0016525, GO:0014823, GO:0010996, GO:0010976, GO:0010811, GO:0010594, GO:0008360, GO:0008284, GO:0007613, GO:0007612, GO:0007507, GO:0007406, GO:0007399, GO:0007229, GO:0007185, GO:0002690, GO:0002232, GO:0001889, positive regulation of stem cell differentiation, positive regulation of hepatocyte proliferation, regulation of stem cell population maintenance, response to nerve growth factor, negative regulation of neuromuscular junction development, positive regulation of skeletal muscle acetylcholine-gated channel clustering, response to ciliary neurotrophic factor, rod bipolar cell differentiation, response to kainic acid, regulation of hemopoiesis, negative regulation of long-term synaptic potentiation, positive regulation of dendrite development, dendrite arborization, negative regulation of mesenchymal cell proliferation, cellular response to hypoxia, cellular response to vitamin D, long-term synaptic potentiation, negative regulation of glial cell proliferation, retinal rod cell differentiation, positive regulation of cell division, negative regulation of epithelial cell proliferation, positive regulation of oligodendrocyte differentiation, positive regulation of oligodendrocyte differentiation, positive regulation of axon regeneration, oogenesis, regulation of synaptic plasticity, decidualization, negative regulation of membrane potential, positive regulation of ossification, endothelial cell differentiation, estrous cycle, ossification involved in bone remodeling, receptor clustering, positive regulation of apoptotic process, response to drug, tissue regeneration, cellular response to platelet-derived growth factor stimulus, cellular response to UV, response to progesterone, negative regulation of phosphoprotein phosphatase activity, response to estradiol, regulation of myelination, dendrite regeneration, positive regulation of bone mineralization, negative regulation of cell migration, lung development, bone mineralization, thalamus development, cerebellum development, spinal cord development, negative regulation of angiogenesis, response to activity, response to auditory stimulus, positive regulation of neuron projection development, positive regulation of cell-substrate adhesion, regulation of endothelial cell migration, regulation of cell shape, positive regulation of cell population proliferation, memory, learning, heart development, negative regulation of neuroblast proliferation, nervous system development, integrin-mediated signaling pathway, transmembrane receptor protein tyrosine phosphatase signaling pathway, positive regulation of leukocyte chemotaxis, leukocyte chemotaxis involved in inflammatory response, liver development, 0 0 0 0 0 0 0 0 0 ENSG00000105926 chr7 24573268 24694193 + MPP6 protein_coding Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]. 51678 GO:0070062, GO:0016020, GO:0005886, extracellular exosome, membrane, plasma membrane, GO:0005515, protein binding, GO:0065003, protein-containing complex assembly, 7 2 14 23 10 34 44 8 21 ENSG00000105928 chr7 24698351 24758113 - GSDME protein_coding Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1687 GO:0016020, GO:0005886, GO:0005829, membrane, plasma membrane, cytosol, GO:1901612, GO:0005546, GO:0005515, cardiolipin binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:2001244, GO:0098586, GO:0071356, GO:0070269, GO:0070265, GO:0043410, GO:0008285, GO:0008219, GO:0007605, positive regulation of intrinsic apoptotic signaling pathway, cellular response to virus, cellular response to tumor necrosis factor, pyroptosis, necrotic cell death, positive regulation of MAPK cascade, negative regulation of cell population proliferation, cell death, sensory perception of sound, 0 0 1 1 0 2 0 0 0 ENSG00000105929 chr7 138706294 138799560 - ATP6V0A4 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]. 50617 GO:0070062, GO:0045177, GO:0031526, GO:0030670, GO:0016471, GO:0016324, GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005768, GO:0005765, GO:0000220, extracellular exosome, apical part of cell, brush border membrane, phagocytic vesicle membrane, vacuolar proton-transporting V-type ATPase complex, apical plasma membrane, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, endosome, lysosomal membrane, vacuolar proton-transporting V-type ATPase, V0 domain, GO:0051117, GO:0051117, GO:0046961, GO:0005515, ATPase binding, ATPase binding, proton-transporting ATPase activity, rotational mechanism, protein binding, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0008286, GO:0007605, GO:0007588, GO:0007035, GO:0006885, GO:0001503, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, insulin receptor signaling pathway, sensory perception of sound, excretion, vacuolar acidification, regulation of pH, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000105939 chr7 139043520 139109719 - ZC3HAV1 protein_coding This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [provided by RefSeq, Jul 2008]. 56829 GO:0005829, GO:0005634, cytosol, nucleus, GO:1990404, GO:0070403, GO:0046872, GO:0045296, GO:0005515, GO:0003950, GO:0003723, protein ADP-ribosylase activity, NAD+ binding, metal ion binding, cadherin binding, protein binding, NAD+ ADP-ribosyltransferase activity, RNA binding, GO:0070212, GO:0061014, GO:0051607, GO:0045087, GO:0045071, GO:0009615, GO:0006471, protein poly-ADP-ribosylation, positive regulation of mRNA catabolic process, defense response to virus, innate immune response, negative regulation of viral genome replication, response to virus, protein ADP-ribosylation, 933 931 1858 1699 1550 2269 1544 1252 1916 ENSG00000105948 chr7 139133744 139191986 + TTC26 protein_coding 79989 GO:0097546, GO:0097542, GO:0036064, GO:0030992, GO:0030992, GO:0005929, GO:0005929, GO:0005813, ciliary base, ciliary tip, ciliary basal body, intraciliary transport particle B, intraciliary transport particle B, cilium, cilium, centrosome, GO:0120170, intraciliary transport particle B binding, GO:1905198, GO:0061512, GO:0060271, GO:0042073, GO:0035735, GO:0035735, GO:0035720, GO:0035082, GO:0007224, manchette assembly, protein localization to cilium, cilium assembly, intraciliary transport, intraciliary transport involved in cilium assembly, intraciliary transport involved in cilium assembly, intraciliary anterograde transport, axoneme assembly, smoothened signaling pathway, 44 53 92 12 34 50 20 24 67 ENSG00000105953 chr7 44606572 44709066 + OGDH protein_coding This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]. 4967 GO:0045252, GO:0045252, GO:0031966, GO:0005759, GO:0005739, GO:0005739, GO:0005634, oxoglutarate dehydrogenase complex, oxoglutarate dehydrogenase complex, mitochondrial membrane, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0046872, GO:0030976, GO:0005515, GO:0004591, GO:0004591, GO:0004591, metal ion binding, thiamine pyrophosphate binding, protein binding, oxoglutarate dehydrogenase (succinyl-transferring) activity, oxoglutarate dehydrogenase (succinyl-transferring) activity, oxoglutarate dehydrogenase (succinyl-transferring) activity, GO:0106077, GO:0006554, GO:0006104, GO:0006103, GO:0006099, GO:0006099, GO:0006096, GO:0006091, histone succinylation, lysine catabolic process, succinyl-CoA metabolic process, 2-oxoglutarate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, glycolytic process, generation of precursor metabolites and energy, 428 526 582 468 530 587 472 383 420 ENSG00000105954 chr7 25224570 25228486 - NPVF protein_coding 64111 GO:0005576, extracellular region, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0032277, GO:0032277, GO:0007218, GO:0007218, negative regulation of gonadotropin secretion, negative regulation of gonadotropin secretion, neuropeptide signaling pathway, neuropeptide signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000105963 chr7 897901 955407 - ADAP1 protein_coding 11033 GO:0043231, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleus, GO:1902936, GO:0046872, GO:0043533, GO:0005515, GO:0005096, phosphatidylinositol bisphosphate binding, metal ion binding, inositol 1,3,4,5 tetrakisphosphate binding, protein binding, GTPase activator activity, GO:0043547, GO:0043087, GO:0007166, positive regulation of GTPase activity, regulation of GTPase activity, cell surface receptor signaling pathway, 299 178 261 230 187 200 266 179 147 ENSG00000105967 chr7 115935148 116159896 - TFEC protein_coding This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 22797 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0034605, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, cellular response to heat, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 24 26 45 26 43 28 23 39 24 ENSG00000105968 chr7 44826791 44848083 - H2AFV protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]. 94239 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0003677, GO:0003674, protein heterodimerization activity, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 738 778 870 448 680 771 618 589 623 ENSG00000105971 chr7 116287380 116508541 + CAV2 protein_coding The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011]. 858 GO:0048471, GO:0048471, GO:0045121, GO:0042383, GO:0032991, GO:0031410, GO:0031410, GO:0031234, GO:0030133, GO:0005925, GO:0005925, GO:0005901, GO:0005887, GO:0005887, GO:0005886, GO:0005794, GO:0005794, GO:0005634, GO:0002095, GO:0002080, GO:0000139, perinuclear region of cytoplasm, perinuclear region of cytoplasm, membrane raft, sarcolemma, protein-containing complex, cytoplasmic vesicle, cytoplasmic vesicle, extrinsic component of cytoplasmic side of plasma membrane, transport vesicle, focal adhesion, focal adhesion, caveola, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, nucleus, caveolar macromolecular signaling complex, acrosomal membrane, Golgi membrane, GO:0097110, GO:0060090, GO:0046982, GO:0042803, GO:0030674, GO:0019901, GO:0005515, scaffold protein binding, molecular adaptor activity, protein heterodimerization activity, protein homodimerization activity, protein-macromolecule adaptor activity, protein kinase binding, protein binding, GO:0071711, GO:0070836, GO:0070836, GO:0070836, GO:0060161, GO:0051480, GO:0048741, GO:0048278, GO:0044794, GO:0044791, GO:0043547, GO:0043410, GO:0043410, GO:0030512, GO:0030154, GO:0019065, GO:0016050, GO:0008286, GO:0008286, GO:0007088, GO:0007029, GO:0007005, GO:0006906, GO:0001938, GO:0001937, GO:0001937, basement membrane organization, caveola assembly, caveola assembly, caveola assembly, positive regulation of dopamine receptor signaling pathway, regulation of cytosolic calcium ion concentration, skeletal muscle fiber development, vesicle docking, positive regulation by host of viral process, positive regulation by host of viral release from host cell, positive regulation of GTPase activity, positive regulation of MAPK cascade, positive regulation of MAPK cascade, negative regulation of transforming growth factor beta receptor signaling pathway, cell differentiation, receptor-mediated endocytosis of virus by host cell, vesicle organization, insulin receptor signaling pathway, insulin receptor signaling pathway, regulation of mitotic nuclear division, endoplasmic reticulum organization, mitochondrion organization, vesicle fusion, positive regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, 0 1 0 0 0 0 0 0 3 ENSG00000105974 chr7 116524785 116561184 + CAV1 protein_coding The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]. 857 GO:0048471, GO:0048471, GO:0048471, GO:0045121, GO:0045121, GO:0042383, GO:0032991, GO:0031901, GO:0031410, GO:0031410, GO:0030666, GO:0016020, GO:0005938, GO:0005929, GO:0005925, GO:0005925, GO:0005925, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005811, GO:0005794, GO:0005789, GO:0005783, GO:0005768, GO:0002095, GO:0002080, GO:0000139, GO:0000139, perinuclear region of cytoplasm, perinuclear region of cytoplasm, perinuclear region of cytoplasm, membrane raft, membrane raft, sarcolemma, protein-containing complex, early endosome membrane, cytoplasmic vesicle, cytoplasmic vesicle, endocytic vesicle membrane, membrane, cell cortex, cilium, focal adhesion, focal adhesion, focal adhesion, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, lipid droplet, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endosome, caveolar macromolecular signaling complex, acrosomal membrane, Golgi membrane, Golgi membrane, GO:0070320, GO:0060090, GO:0060090, GO:0051117, GO:0051117, GO:0050998, GO:0046982, GO:0044877, GO:0044325, GO:0044325, GO:0042802, GO:0031267, GO:0030674, GO:0019901, GO:0019901, GO:0019899, GO:0016504, GO:0015485, GO:0005515, GO:0005113, GO:0005102, inward rectifier potassium channel inhibitor activity, molecular adaptor activity, molecular adaptor activity, ATPase binding, ATPase binding, nitric-oxide synthase binding, protein heterodimerization activity, protein-containing complex binding, ion channel binding, ion channel binding, identical protein binding, small GTPase binding, protein-macromolecule adaptor activity, protein kinase binding, protein kinase binding, enzyme binding, peptidase activator activity, cholesterol binding, protein binding, patched binding, signaling receptor binding, GO:2001244, GO:2001238, GO:2000811, GO:2000535, GO:2000286, GO:1904886, GO:1903609, GO:1903598, GO:1903361, GO:1903071, GO:1901844, GO:1901380, GO:1900085, GO:1900027, GO:0120162, GO:0098911, GO:0098909, GO:0098903, GO:0097190, GO:0090263, GO:0090090, GO:0086098, GO:0086091, GO:0072584, GO:0071711, GO:0071560, GO:0071455, GO:0071375, GO:0071360, GO:0070836, GO:0070836, GO:0070836, GO:0070836, GO:0061099, GO:0061099, GO:0060546, GO:0060355, GO:0060056, GO:0055074, GO:0052547, GO:0051899, GO:0051592, GO:0051480, GO:0051480, GO:0051092, GO:0051001, GO:0050999, GO:0050900, GO:0048550, GO:0046426, GO:0045907, GO:0045019, GO:0044860, GO:0043627, GO:0043409, GO:0043085, GO:0042632, GO:0042632, GO:0042532, GO:0042310, GO:0038016, GO:0034141, GO:0033484, GO:0033138, GO:0033137, GO:0032570, GO:0032507, GO:0032092, GO:0032091, GO:0031623, GO:0031398, GO:0031397, GO:0031295, GO:0030879, GO:0030857, GO:0030512, GO:0030335, GO:0030301, GO:0030193, GO:0030154, GO:0019915, GO:0019217, GO:0019065, GO:0016050, GO:0010952, GO:0010875, GO:0010628, GO:0010608, GO:0010524, GO:0009617, GO:0008104, GO:0007595, GO:0007519, GO:0006940, GO:0006874, GO:0006816, GO:0006641, GO:0003057, GO:0002931, GO:0001960, GO:0001937, GO:0001937, GO:0001666, GO:0001570, GO:0001525, GO:0000188, GO:0000122, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, negative regulation of anoikis, regulation of entry of bacterium into host cell, receptor internalization involved in canonical Wnt signaling pathway, beta-catenin destruction complex disassembly, negative regulation of inward rectifier potassium channel activity, positive regulation of gap junction assembly, protein localization to basolateral plasma membrane, positive regulation of ER-associated ubiquitin-dependent protein catabolic process, regulation of cell communication by electrical coupling involved in cardiac conduction, negative regulation of potassium ion transmembrane transport, negative regulation of peptidyl-tyrosine autophosphorylation, regulation of ruffle assembly, positive regulation of cold-induced thermogenesis, regulation of ventricular cardiac muscle cell action potential, regulation of cardiac muscle cell action potential involved in regulation of contraction, regulation of membrane repolarization during action potential, apoptotic signaling pathway, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, angiotensin-activated signaling pathway involved in heart process, regulation of heart rate by cardiac conduction, caveolin-mediated endocytosis, basement membrane organization, cellular response to transforming growth factor beta stimulus, cellular response to hyperoxia, cellular response to peptide hormone stimulus, cellular response to exogenous dsRNA, caveola assembly, caveola assembly, caveola assembly, caveola assembly, negative regulation of protein tyrosine kinase activity, negative regulation of protein tyrosine kinase activity, negative regulation of necroptotic process, positive regulation of cell adhesion molecule production, mammary gland involution, calcium ion homeostasis, regulation of peptidase activity, membrane depolarization, response to calcium ion, regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, positive regulation of NF-kappaB transcription factor activity, negative regulation of nitric-oxide synthase activity, regulation of nitric-oxide synthase activity, leukocyte migration, negative regulation of pinocytosis, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of vasoconstriction, negative regulation of nitric oxide biosynthetic process, protein localization to plasma membrane raft, response to estrogen, negative regulation of MAPK cascade, positive regulation of catalytic activity, cholesterol homeostasis, cholesterol homeostasis, negative regulation of tyrosine phosphorylation of STAT protein, vasoconstriction, insulin receptor internalization, positive regulation of toll-like receptor 3 signaling pathway, nitric oxide homeostasis, positive regulation of peptidyl-serine phosphorylation, negative regulation of peptidyl-serine phosphorylation, response to progesterone, maintenance of protein location in cell, positive regulation of protein binding, negative regulation of protein binding, receptor internalization, positive regulation of protein ubiquitination, negative regulation of protein ubiquitination, T cell costimulation, mammary gland development, negative regulation of epithelial cell differentiation, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, cholesterol transport, regulation of blood coagulation, cell differentiation, lipid storage, regulation of fatty acid metabolic process, receptor-mediated endocytosis of virus by host cell, vesicle organization, positive regulation of peptidase activity, positive regulation of cholesterol efflux, positive regulation of gene expression, posttranscriptional regulation of gene expression, positive regulation of calcium ion transport into cytosol, response to bacterium, protein localization, lactation, skeletal muscle tissue development, regulation of smooth muscle contraction, cellular calcium ion homeostasis, calcium ion transport, triglyceride metabolic process, regulation of the force of heart contraction by chemical signal, response to ischemia, negative regulation of cytokine-mediated signaling pathway, negative regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, response to hypoxia, vasculogenesis, angiogenesis, inactivation of MAPK activity, negative regulation of transcription by RNA polymerase II, 0 1 0 0 0 0 2 0 2 ENSG00000105976 chr7 116672390 116798386 + MET protein_coding This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]. 4233 GO:0043235, GO:0016021, GO:0009986, GO:0009925, GO:0009925, GO:0005887, GO:0005886, GO:0005576, receptor complex, integral component of membrane, cell surface, basal plasma membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0042802, GO:0019903, GO:0017154, GO:0005524, GO:0005515, GO:0005008, GO:0004714, GO:0004713, GO:0004713, identical protein binding, protein phosphatase binding, semaphorin receptor activity, ATP binding, protein binding, hepatocyte growth factor-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2001028, GO:1905098, GO:1901299, GO:0071526, GO:0070495, GO:0061436, GO:0051897, GO:0051897, GO:0051497, GO:0050918, GO:0048754, GO:0048012, GO:0045944, GO:0035635, GO:0035024, GO:0033674, GO:0031116, GO:0031016, GO:0030182, GO:0018108, GO:0016477, GO:0010507, GO:0007399, GO:0007275, GO:0007169, GO:0007166, GO:0007165, GO:0006909, GO:0001889, GO:0001886, GO:0000165, positive regulation of endothelial cell chemotaxis, negative regulation of guanyl-nucleotide exchange factor activity, negative regulation of hydrogen peroxide-mediated programmed cell death, semaphorin-plexin signaling pathway, negative regulation of thrombin-activated receptor signaling pathway, establishment of skin barrier, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, negative regulation of stress fiber assembly, positive chemotaxis, branching morphogenesis of an epithelial tube, hepatocyte growth factor receptor signaling pathway, positive regulation of transcription by RNA polymerase II, entry of bacterium into host cell, negative regulation of Rho protein signal transduction, positive regulation of kinase activity, positive regulation of microtubule polymerization, pancreas development, neuron differentiation, peptidyl-tyrosine phosphorylation, cell migration, negative regulation of autophagy, nervous system development, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, signal transduction, phagocytosis, liver development, endothelial cell morphogenesis, MAPK cascade, 0 0 0 0 0 0 1 0 0 ENSG00000105982 chr7 156640281 156677130 + RNF32 protein_coding The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 140545 GO:0016235, GO:0005768, aggresome, endosome, GO:0046872, GO:0005515, metal ion binding, protein binding, 30 40 35 60 66 39 77 37 32 ENSG00000105983 chr7 156668946 156893230 - LMBR1 protein_coding This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]. 64327 GO:0005887, integral component of plasma membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0042733, GO:0007165, embryonic digit morphogenesis, signal transduction, 257 345 316 193 255 227 241 197 199 ENSG00000105988 chr10 92216332 92216793 + NHP2P1 processed_pseudogene 0 0 0 4 1 0 0 0 0 ENSG00000105989 chr7 117275451 117323289 - WNT2 protein_coding This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]. 7472 GO:1990909, GO:0062023, GO:0031232, GO:0005737, GO:0005615, GO:0005576, GO:0005576, Wnt signalosome, collagen-containing extracellular matrix, extrinsic component of external side of plasma membrane, cytoplasm, extracellular space, extracellular region, extracellular region, GO:0048018, GO:0048018, GO:0005515, GO:0005125, GO:0005125, GO:0005109, GO:0005109, receptor ligand activity, receptor ligand activity, protein binding, cytokine activity, cytokine activity, frizzled binding, frizzled binding, GO:1904954, GO:1904948, GO:0071560, GO:0071300, GO:0061180, GO:0061072, GO:0060716, GO:0060501, GO:0060492, GO:0060317, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0060045, GO:0055009, GO:0051091, GO:0050769, GO:0048146, GO:0045944, GO:0045165, GO:0033278, GO:0030324, GO:0030182, GO:0030182, GO:0022008, GO:0016055, GO:0008284, GO:0007267, GO:0002088, GO:0002053, GO:0001938, canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, midbrain dopaminergic neuron differentiation, cellular response to transforming growth factor beta stimulus, cellular response to retinoic acid, mammary gland epithelium development, iris morphogenesis, labyrinthine layer blood vessel development, positive regulation of epithelial cell proliferation involved in lung morphogenesis, lung induction, cardiac epithelial to mesenchymal transition, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of cardiac muscle cell proliferation, atrial cardiac muscle tissue morphogenesis, positive regulation of DNA-binding transcription factor activity, positive regulation of neurogenesis, positive regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, cell fate commitment, cell proliferation in midbrain, lung development, neuron differentiation, neuron differentiation, neurogenesis, Wnt signaling pathway, positive regulation of cell population proliferation, cell-cell signaling, lens development in camera-type eye, positive regulation of mesenchymal cell proliferation, positive regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000105991 chr7 27092993 27095996 - HOXA1 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]. 3198 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0043565, GO:0042802, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, identical protein binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090103, GO:0090102, GO:0060876, GO:0060840, GO:0050905, GO:0050890, GO:0050795, GO:0048844, GO:0048839, GO:0048702, GO:0045944, GO:0042473, GO:0021599, GO:0009653, GO:0007634, GO:0007605, GO:0007275, GO:0006357, cochlea morphogenesis, cochlea development, semicircular canal formation, artery development, neuromuscular process, cognition, regulation of behavior, artery morphogenesis, inner ear development, embryonic neurocranium morphogenesis, positive regulation of transcription by RNA polymerase II, outer ear morphogenesis, abducens nerve formation, anatomical structure morphogenesis, optokinetic behavior, sensory perception of sound, multicellular organism development, regulation of transcription by RNA polymerase II, 19 16 25 1 14 14 9 16 14 ENSG00000105993 chr7 157335381 157417439 + DNAJB6 protein_coding This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]. 10049 GO:0048471, GO:0030018, GO:0016020, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, Z disc, membrane, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0051087, GO:0051087, GO:0051082, GO:0031072, GO:0005515, GO:0003677, GO:0001671, chaperone binding, chaperone binding, unfolded protein binding, heat shock protein binding, protein binding, DNA binding, ATPase activator activity, GO:1900034, GO:0090084, GO:0090084, GO:0060717, GO:0060715, GO:0060710, GO:0045892, GO:0045109, GO:0043154, GO:0034504, GO:0032880, GO:0032781, GO:0030198, GO:0030036, GO:0006457, regulation of cellular response to heat, negative regulation of inclusion body assembly, negative regulation of inclusion body assembly, chorion development, syncytiotrophoblast cell differentiation involved in labyrinthine layer development, chorio-allantoic fusion, negative regulation of transcription, DNA-templated, intermediate filament organization, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, protein localization to nucleus, regulation of protein localization, positive regulation of ATPase activity, extracellular matrix organization, actin cytoskeleton organization, protein folding, 2796 2788 3917 2574 3507 3894 2822 2559 3140 ENSG00000105996 chr7 27100354 27102811 - HOXA2 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]. 3199 GO:0043231, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071300, GO:0048703, GO:0045668, GO:0045665, GO:0042474, GO:0035284, GO:0021658, GO:0021568, GO:0009953, GO:0009952, GO:0008045, GO:0007379, GO:0006357, GO:0002076, GO:0001709, cellular response to retinoic acid, embryonic viscerocranium morphogenesis, negative regulation of osteoblast differentiation, negative regulation of neuron differentiation, middle ear morphogenesis, brain segmentation, rhombomere 3 morphogenesis, rhombomere 2 development, dorsal/ventral pattern formation, anterior/posterior pattern specification, motor neuron axon guidance, segment specification, regulation of transcription by RNA polymerase II, osteoblast development, cell fate determination, 15 11 13 5 13 6 5 13 5 ENSG00000105997 chr7 27106184 27152581 - HOXA3 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3200 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0071837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, HMG box domain binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1900122, GO:0060017, GO:0051216, GO:0048704, GO:0048645, GO:0048538, GO:0030878, GO:0021615, GO:0010467, GO:0010159, GO:0009952, GO:0008284, GO:0006357, GO:0001974, GO:0001525, positive regulation of receptor binding, parathyroid gland development, cartilage development, embryonic skeletal system morphogenesis, animal organ formation, thymus development, thyroid gland development, glossopharyngeal nerve morphogenesis, gene expression, specification of animal organ position, anterior/posterior pattern specification, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, blood vessel remodeling, angiogenesis, 8 3 17 0 2 5 1 3 6 ENSG00000106003 chr7 2512529 2529177 + LFNG protein_coding This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]. 3955 GO:1903561, GO:0030173, GO:0005576, extracellular vesicle, integral component of Golgi membrane, extracellular region, GO:0046872, GO:0033829, GO:0033829, GO:0033829, GO:0008375, metal ion binding, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:1902367, GO:0051446, GO:0045747, GO:0032092, GO:0030217, GO:0014807, GO:0009887, GO:0008593, GO:0008593, GO:0007386, GO:0002315, GO:0001756, GO:0001541, negative regulation of Notch signaling pathway involved in somitogenesis, positive regulation of meiotic cell cycle, positive regulation of Notch signaling pathway, positive regulation of protein binding, T cell differentiation, regulation of somitogenesis, animal organ morphogenesis, regulation of Notch signaling pathway, regulation of Notch signaling pathway, compartment pattern specification, marginal zone B cell differentiation, somitogenesis, ovarian follicle development, 497 480 1062 214 243 250 257 194 210 ENSG00000106004 chr7 27141052 27143668 - HOXA5 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008]. 3202 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060764, GO:0060749, GO:0060644, GO:0060638, GO:0060574, GO:0060535, GO:0060484, GO:0060480, GO:0060441, GO:0060435, GO:0048704, GO:0048286, GO:0045944, GO:0045647, GO:0045639, GO:0043065, GO:0035264, GO:0033599, GO:0030878, GO:0016525, GO:0016477, GO:0010628, GO:0009952, GO:0006357, GO:0003016, cell-cell signaling involved in mammary gland development, mammary gland alveolus development, mammary gland epithelial cell differentiation, mesenchymal-epithelial cell signaling, intestinal epithelial cell maturation, trachea cartilage morphogenesis, lung-associated mesenchyme development, lung goblet cell differentiation, epithelial tube branching involved in lung morphogenesis, bronchiole development, embryonic skeletal system morphogenesis, lung alveolus development, positive regulation of transcription by RNA polymerase II, negative regulation of erythrocyte differentiation, positive regulation of myeloid cell differentiation, positive regulation of apoptotic process, multicellular organism growth, regulation of mammary gland epithelial cell proliferation, thyroid gland development, negative regulation of angiogenesis, cell migration, positive regulation of gene expression, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, respiratory system process, 7 7 12 0 9 12 3 14 8 ENSG00000106006 chr7 27145396 27150603 - HOXA6 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]. 3203 GO:0016607, GO:0005654, GO:0005634, GO:0000785, nuclear speck, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048704, GO:0009952, GO:0006357, GO:0006357, embryonic skeletal system morphogenesis, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 0 0 0 ENSG00000106009 chr7 2537877 2555727 - BRAT1 protein_coding The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]. 221927 GO:0016020, GO:0005737, GO:0005654, GO:0005634, GO:0005634, membrane, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0051646, GO:0030307, GO:0016477, GO:0010212, GO:0008283, GO:0006974, GO:0006974, GO:0006915, GO:0006006, GO:0001934, GO:0001934, mitochondrion localization, positive regulation of cell growth, cell migration, response to ionizing radiation, cell population proliferation, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, apoptotic process, glucose metabolic process, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, 669 741 737 497 760 597 601 525 447 ENSG00000106012 chr7 2558972 2614734 + IQCE protein_coding 23288 GO:0060170, GO:0005929, ciliary membrane, cilium, GO:0005515, protein binding, GO:0035108, limb morphogenesis, 429 398 480 332 462 365 390 309 369 ENSG00000106013 chr7 118214669 118496171 + ANKRD7 protein_coding 56311 GO:0005813, GO:0005654, centrosome, nucleoplasm, 0 0 1 0 0 0 0 0 0 ENSG00000106018 chr7 159028175 159144957 - VIPR2 protein_coding This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011]. 7434 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0017046, GO:0008528, GO:0004999, GO:0004930, peptide hormone binding, G protein-coupled peptide receptor activity, vasoactive intestinal polypeptide receptor activity, G protein-coupled receptor activity, GO:0048662, GO:0007267, GO:0007190, GO:0007188, GO:0007186, GO:0007166, GO:0007165, negative regulation of smooth muscle cell proliferation, cell-cell signaling, activation of adenylate cyclase activity, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, 1 0 1 0 1 0 3 0 0 ENSG00000106025 chr7 120787320 120858402 - TSPAN12 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]. 23554 GO:0016021, GO:0016020, GO:0005887, GO:0005887, integral component of membrane, membrane, integral component of plasma membrane, integral component of plasma membrane, GO:0042813, GO:0005515, Wnt-activated receptor activity, protein binding, GO:1900746, GO:0045765, GO:0016055, GO:0010842, GO:0007166, GO:0001525, regulation of vascular endothelial growth factor signaling pathway, regulation of angiogenesis, Wnt signaling pathway, retina layer formation, cell surface receptor signaling pathway, angiogenesis, 0 1 0 0 0 0 0 0 0 ENSG00000106028 chr7 141738321 141787922 + SSBP1 protein_coding SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]. 6742 GO:0070062, GO:0042645, GO:0042645, GO:0009295, GO:0005759, GO:0005739, GO:0005634, extracellular exosome, mitochondrial nucleoid, mitochondrial nucleoid, nucleoid, mitochondrial matrix, mitochondrion, nucleus, GO:0005515, GO:0003723, GO:0003697, GO:0003697, GO:0003682, protein binding, RNA binding, single-stranded DNA binding, single-stranded DNA binding, chromatin binding, GO:1905776, GO:0070584, GO:0051096, GO:0051096, GO:0007005, GO:0006268, GO:0006264, positive regulation of DNA helicase activity, mitochondrion morphogenesis, positive regulation of helicase activity, positive regulation of helicase activity, mitochondrion organization, DNA unwinding involved in DNA replication, mitochondrial DNA replication, 34 12 18 67 44 65 53 20 36 ENSG00000106031 chr7 27193503 27200106 - HOXA13 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]. 3209 GO:0045111, GO:0005829, GO:0005654, GO:0000785, intermediate filament cytoskeleton, cytosol, nucleoplasm, chromatin, GO:1990837, GO:0043565, GO:0043565, GO:0003677, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, sequence-specific DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, GO:0001501, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000106034 chr7 120988677 121297444 + CPED1 protein_coding 79974 GO:0005783, endoplasmic reticulum, 0 2 1 4 2 9 5 3 5 ENSG00000106038 chr7 27242700 27250493 + EVX1 protein_coding This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008]. 2128 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0009792, GO:0006357, positive regulation of transcription by RNA polymerase II, embryo development ending in birth or egg hatching, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000106049 chr7 27525442 27662995 - HIBADH protein_coding This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]. 11112 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0051287, GO:0050661, GO:0016616, GO:0008442, GO:0008442, GO:0005515, NAD binding, NADP binding, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, 3-hydroxyisobutyrate dehydrogenase activity, 3-hydroxyisobutyrate dehydrogenase activity, protein binding, GO:0055114, GO:0009083, GO:0006574, GO:0006574, GO:0006574, oxidation-reduction process, branched-chain amino acid catabolic process, valine catabolic process, valine catabolic process, valine catabolic process, 15 22 26 37 26 23 17 27 22 ENSG00000106052 chr7 27739331 27844564 + TAX1BP1 protein_coding This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]. 8887 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0046872, GO:0019900, GO:0005515, metal ion binding, kinase binding, protein binding, GO:0043066, GO:0032480, GO:0032088, GO:0010803, GO:0006915, negative regulation of apoptotic process, negative regulation of type I interferon production, negative regulation of NF-kappaB transcription factor activity, regulation of tumor necrosis factor-mediated signaling pathway, apoptotic process, 3108 2783 3909 1088 1785 1629 1147 1556 1332 ENSG00000106066 chr7 28995231 29195451 - CPVL protein_coding The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. [provided by RefSeq, Jan 2017]. 54504 GO:0070062, extracellular exosome, GO:0004185, serine-type carboxypeptidase activity, GO:0006508, proteolysis, 24 34 53 83 79 96 44 59 69 ENSG00000106069 chr7 29146569 29514328 + CHN2 protein_coding This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]. 1124 GO:0045202, GO:0016020, GO:0005829, synapse, membrane, cytosol, GO:0046872, GO:0005515, GO:0005096, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0051056, GO:0043547, GO:0043087, GO:0035556, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of GTPase activity, intracellular signal transduction, 0 0 0 2 5 0 2 2 2 ENSG00000106070 chr7 50590063 50793462 - GRB10 protein_coding The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]. 2887 GO:0032991, GO:0005886, GO:0005829, GO:0005737, protein-containing complex, plasma membrane, cytosol, cytoplasm, GO:0005515, GO:0005158, GO:0005158, protein binding, insulin receptor binding, insulin receptor binding, GO:0120162, GO:0046627, GO:0046627, GO:0046325, GO:0030949, GO:0030178, GO:0030178, GO:0008286, GO:0007411, positive regulation of cold-induced thermogenesis, negative regulation of insulin receptor signaling pathway, negative regulation of insulin receptor signaling pathway, negative regulation of glucose import, positive regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, insulin receptor signaling pathway, axon guidance, 46 35 105 41 27 102 59 24 85 ENSG00000106077 chr7 73736094 73738867 - ABHD11 protein_coding This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]. 83451 GO:0005739, GO:0005575, mitochondrion, cellular_component, GO:0016787, GO:0003674, hydrolase activity, molecular_function, GO:0008150, biological_process, 18 23 45 24 41 38 28 32 28 ENSG00000106078 chr7 51016212 51316818 - COBL protein_coding This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]. 23242 GO:1990357, GO:0048471, GO:0048471, GO:0044295, GO:0044295, GO:0044294, GO:0044294, GO:0043025, GO:0043025, GO:0030425, GO:0030424, GO:0016020, GO:0005938, GO:0005886, GO:0005886, GO:0005884, GO:0005884, GO:0001726, GO:0001726, terminal web, perinuclear region of cytoplasm, perinuclear region of cytoplasm, axonal growth cone, axonal growth cone, dendritic growth cone, dendritic growth cone, neuronal cell body, neuronal cell body, dendrite, axon, membrane, cell cortex, plasma membrane, plasma membrane, actin filament, actin filament, ruffle, ruffle, GO:0005515, GO:0003785, GO:0003785, protein binding, actin monomer binding, actin monomer binding, GO:1900029, GO:1900006, GO:0051639, GO:0051639, GO:0048669, GO:0048565, GO:0033504, GO:0030903, GO:0030041, GO:0030041, GO:0001889, GO:0001843, GO:0001757, GO:0000578, positive regulation of ruffle assembly, positive regulation of dendrite development, actin filament network formation, actin filament network formation, collateral sprouting in absence of injury, digestive tract development, floor plate development, notochord development, actin filament polymerization, actin filament polymerization, liver development, neural tube closure, somite specification, embryonic axis specification, 0 0 0 0 0 0 0 0 0 ENSG00000106080 chr7 30010587 30026684 - FKBP14 protein_coding The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]. 55033 GO:0005788, endoplasmic reticulum lumen, GO:0005515, GO:0005509, GO:0003755, protein binding, calcium ion binding, peptidyl-prolyl cis-trans isomerase activity, GO:0036498, GO:0000413, IRE1-mediated unfolded protein response, protein peptidyl-prolyl isomerization, 4 5 5 10 2 16 3 1 8 ENSG00000106086 chr7 30027404 30130483 + PLEKHA8 protein_coding 84725 GO:0016020, GO:0005829, GO:0005802, GO:0005794, GO:0005654, GO:0000139, membrane, cytosol, trans-Golgi network, Golgi apparatus, nucleoplasm, Golgi membrane, GO:1902388, GO:1902387, GO:0097001, GO:0070273, GO:0051861, GO:0017089, ceramide 1-phosphate transfer activity, ceramide 1-phosphate binding, ceramide binding, phosphatidylinositol-4-phosphate binding, glycolipid binding, glycolipid transfer activity, GO:1902389, GO:0120009, GO:0046836, GO:0035627, GO:0035621, GO:0035621, GO:0015031, GO:0006869, GO:0006661, ceramide 1-phosphate transport, intermembrane lipid transfer, glycolipid transport, ceramide transport, ER to Golgi ceramide transport, ER to Golgi ceramide transport, protein transport, lipid transport, phosphatidylinositol biosynthetic process, 16 26 24 23 39 44 18 30 15 ENSG00000106089 chr7 73699206 73719672 - STX1A protein_coding This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 6804 GO:0099056, GO:0098978, GO:0070044, GO:0070033, GO:0070032, GO:0048787, GO:0043005, GO:0042641, GO:0031965, GO:0031201, GO:0031201, GO:0031201, GO:0030424, GO:0030285, GO:0030141, GO:0016021, GO:0014069, GO:0012505, GO:0008076, GO:0008021, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005576, integral component of presynaptic membrane, glutamatergic synapse, synaptobrevin 2-SNAP-25-syntaxin-1a complex, synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex, synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex, presynaptic active zone membrane, neuron projection, actomyosin, nuclear membrane, SNARE complex, SNARE complex, SNARE complex, axon, integral component of synaptic vesicle membrane, secretory granule, integral component of membrane, postsynaptic density, endomembrane system, voltage-gated potassium channel complex, synaptic vesicle, plasma membrane, plasma membrane, plasma membrane, cytosol, extracellular region, GO:0048306, GO:0047485, GO:0044877, GO:0044325, GO:0043008, GO:0042802, GO:0032028, GO:0019904, GO:0019900, GO:0019869, GO:0019855, GO:0005515, GO:0005484, GO:0000149, calcium-dependent protein binding, protein N-terminus binding, protein-containing complex binding, ion channel binding, ATP-dependent protein binding, identical protein binding, myosin head/neck binding, protein domain specific binding, kinase binding, chloride channel inhibitor activity, calcium channel inhibitor activity, protein binding, SNAP receptor activity, SNARE binding, GO:2000463, GO:0072657, GO:0050796, GO:0048488, GO:0048278, GO:0045956, GO:0035493, GO:0033605, GO:0032940, GO:0031629, GO:0030073, GO:0019221, GO:0017156, GO:0016925, GO:0016081, GO:0016079, GO:0014047, GO:0010807, GO:0010701, GO:0009629, GO:0007269, GO:0006906, GO:0006887, GO:0006886, GO:0001956, positive regulation of excitatory postsynaptic potential, protein localization to membrane, regulation of insulin secretion, synaptic vesicle endocytosis, vesicle docking, positive regulation of calcium ion-dependent exocytosis, SNARE complex assembly, positive regulation of catecholamine secretion, secretion by cell, synaptic vesicle fusion to presynaptic active zone membrane, insulin secretion, cytokine-mediated signaling pathway, calcium-ion regulated exocytosis, protein sumoylation, synaptic vesicle docking, synaptic vesicle exocytosis, glutamate secretion, regulation of synaptic vesicle priming, positive regulation of norepinephrine secretion, response to gravity, neurotransmitter secretion, vesicle fusion, exocytosis, intracellular protein transport, positive regulation of neurotransmitter secretion, 5 1 27 6 3 11 2 2 10 ENSG00000106100 chr7 30424527 30478784 - NOD1 protein_coding This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]. 10392 GO:0046658, GO:0045335, GO:0016324, GO:0016323, GO:0005829, GO:0005829, GO:0005737, GO:0005737, anchored component of plasma membrane, phagocytic vesicle, apical plasma membrane, basolateral plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, GO:0050700, GO:0044877, GO:0042834, GO:0042803, GO:0042802, GO:0042802, GO:0038187, GO:0008656, GO:0005524, GO:0005515, CARD domain binding, protein-containing complex binding, peptidoglycan binding, protein homodimerization activity, identical protein binding, identical protein binding, pattern recognition receptor activity, cysteine-type endopeptidase activator activity involved in apoptotic process, ATP binding, protein binding, GO:1904417, GO:1901224, GO:0071225, GO:0070498, GO:0070423, GO:0070374, GO:0051092, GO:0051092, GO:0051000, GO:0050830, GO:0046330, GO:0045087, GO:0043280, GO:0043123, GO:0042742, GO:0035556, GO:0035556, GO:0032760, GO:0032755, GO:0032731, GO:0032637, GO:0016045, GO:0009595, GO:0007254, GO:0007165, GO:0006954, GO:0006952, GO:0006919, GO:0006915, GO:0002606, GO:0002221, GO:0000187, positive regulation of xenophagy, positive regulation of NIK/NF-kappaB signaling, cellular response to muramyl dipeptide, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of nitric-oxide synthase activity, defense response to Gram-positive bacterium, positive regulation of JNK cascade, innate immune response, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, defense response to bacterium, intracellular signal transduction, intracellular signal transduction, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, interleukin-8 production, detection of bacterium, detection of biotic stimulus, JNK cascade, signal transduction, inflammatory response, defense response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, positive regulation of dendritic cell antigen processing and presentation, pattern recognition receptor signaling pathway, activation of MAPK activity, 71 71 101 152 92 88 120 60 104 ENSG00000106105 chr7 30594681 30634033 + GARS protein_coding This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 2617 GO:0070062, GO:0030424, GO:0030141, GO:0005829, GO:0005829, GO:0005759, GO:0005739, GO:0005737, extracellular exosome, axon, secretory granule, cytosol, cytosol, mitochondrial matrix, mitochondrion, cytoplasm, GO:0046983, GO:0042802, GO:0016740, GO:0005524, GO:0005515, GO:0004820, GO:0004820, GO:0004820, GO:0004081, protein dimerization activity, identical protein binding, transferase activity, ATP binding, protein binding, glycine-tRNA ligase activity, glycine-tRNA ligase activity, glycine-tRNA ligase activity, bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity, GO:0070150, GO:0015966, GO:0006426, GO:0006418, GO:0006418, mitochondrial glycyl-tRNA aminoacylation, diadenosine tetraphosphate biosynthetic process, glycyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, tRNA aminoacylation for protein translation, 139 264 285 1096 1432 1933 943 1038 982 ENSG00000106113 chr7 30651943 30700129 - CRHR2 protein_coding The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]. 1395 GO:0043679, GO:0030425, GO:0005887, GO:0005886, GO:0005886, axon terminus, dendrite, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0043404, GO:0017046, GO:0015056, GO:0008528, GO:0005515, corticotropin-releasing hormone receptor activity, peptide hormone binding, corticotrophin-releasing factor receptor activity, G protein-coupled peptide receptor activity, protein binding, GO:0071376, GO:0060291, GO:0009755, GO:0007188, GO:0007186, GO:0007166, cellular response to corticotropin-releasing hormone stimulus, long-term synaptic potentiation, hormone-mediated signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 1 1 0 10 7 0 0 ENSG00000106123 chr7 142855061 142871094 + EPHB6 protein_coding This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 2051 GO:0043235, GO:0043005, GO:0005887, GO:0005886, GO:0005829, GO:0005576, receptor complex, neuron projection, integral component of plasma membrane, plasma membrane, cytosol, extracellular region, GO:0038023, GO:0005524, GO:0005005, GO:0005003, GO:0004714, signaling receptor activity, ATP binding, transmembrane-ephrin receptor activity, ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:0048013, GO:0033674, GO:0021952, GO:0018108, GO:0007411, GO:0007275, GO:0007169, ephrin receptor signaling pathway, positive regulation of kinase activity, central nervous system projection neuron axonogenesis, peptidyl-tyrosine phosphorylation, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, 24 23 42 22 17 16 15 24 19 ENSG00000106125 chr7 30771417 30892387 + MINDY4 protein_coding 84182 GO:1990380, GO:0008234, GO:0004843, Lys48-specific deubiquitinase activity, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, GO:0071108, protein K48-linked deubiquitination, 0 0 0 0 0 0 1 0 0 ENSG00000106128 chr7 30938669 30993254 + GHRHR protein_coding This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]. 2692 GO:0042383, GO:0030141, GO:0016363, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005640, GO:0005637, sarcolemma, secretory granule, nuclear matrix, integral component of membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nuclear outer membrane, nuclear inner membrane, GO:0019838, GO:0019838, GO:0017046, GO:0017046, GO:0016520, GO:0016520, GO:0008528, GO:0005515, GO:0004930, growth factor binding, growth factor binding, peptide hormone binding, peptide hormone binding, growth hormone-releasing hormone receptor activity, growth hormone-releasing hormone receptor activity, G protein-coupled peptide receptor activity, protein binding, G protein-coupled receptor activity, GO:0071333, GO:0060133, GO:0060124, GO:0051384, GO:0051246, GO:0048609, GO:0048469, GO:0046010, GO:0043627, GO:0043568, GO:0042445, GO:0040018, GO:0033143, GO:0032869, GO:0032868, GO:0030104, GO:0019933, GO:0008340, GO:0008284, GO:0008284, GO:0007595, GO:0007190, GO:0007189, GO:0007189, GO:0007188, GO:0007186, GO:0007166, cellular response to glucose stimulus, somatotropin secreting cell development, positive regulation of growth hormone secretion, response to glucocorticoid, regulation of protein metabolic process, multicellular organismal reproductive process, cell maturation, positive regulation of circadian sleep/wake cycle, non-REM sleep, response to estrogen, positive regulation of insulin-like growth factor receptor signaling pathway, hormone metabolic process, positive regulation of multicellular organism growth, regulation of intracellular steroid hormone receptor signaling pathway, cellular response to insulin stimulus, response to insulin, water homeostasis, cAMP-mediated signaling, determination of adult lifespan, positive regulation of cell population proliferation, positive regulation of cell population proliferation, lactation, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000106133 chr7 72947581 72954790 - NSUN5P2 transcribed_unprocessed_pseudogene This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013]. 260294 GO:0005730, nucleolus, GO:0008168, GO:0003723, methyltransferase activity, RNA binding, GO:0070475, GO:0001510, rRNA base methylation, RNA methylation, 83 69 93 95 113 143 91 92 89 ENSG00000106144 chr7 143288215 143307696 + CASP2 protein_coding This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 835 GO:0016020, GO:0005829, GO:0005739, GO:0005737, GO:0005634, membrane, cytosol, mitochondrion, cytoplasm, nucleus, GO:0097200, GO:0097199, GO:0097153, GO:0042802, GO:0019904, GO:0019899, GO:0005515, GO:0004197, GO:0004197, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, identical protein binding, protein domain specific binding, enzyme binding, protein binding, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:2001235, GO:0097194, GO:0097192, GO:0097190, GO:0071260, GO:0043525, GO:0043066, GO:0043065, GO:0042981, GO:0035234, GO:0016485, GO:0008630, GO:0008630, GO:0007568, GO:0007420, GO:0006977, GO:0006919, GO:0006915, GO:0006915, GO:0003407, GO:0001554, positive regulation of apoptotic signaling pathway, execution phase of apoptosis, extrinsic apoptotic signaling pathway in absence of ligand, apoptotic signaling pathway, cellular response to mechanical stimulus, positive regulation of neuron apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, ectopic germ cell programmed cell death, protein processing, intrinsic apoptotic signaling pathway in response to DNA damage, intrinsic apoptotic signaling pathway in response to DNA damage, aging, brain development, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, apoptotic process, neural retina development, luteolysis, 261 357 323 323 488 528 369 330 387 ENSG00000106153 chr7 56101569 56106576 - CHCHD2 protein_coding The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 51142 GO:0005758, GO:0005739, GO:0005739, GO:0005634, GO:0005634, mitochondrial intermembrane space, mitochondrion, mitochondrion, nucleus, nucleus, GO:0043565, GO:0043565, GO:0008134, GO:0005515, sequence-specific DNA binding, sequence-specific DNA binding, transcription factor binding, protein binding, GO:1905448, GO:1900037, GO:0045944, GO:0045944, GO:0034599, GO:0007005, positive regulation of mitochondrial ATP synthesis coupled electron transport, regulation of cellular response to hypoxia, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cellular response to oxidative stress, mitochondrion organization, 809 655 785 421 542 496 453 582 466 ENSG00000106178 chr7 75811665 75823356 - CCL24 protein_coding This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. Finally, the protein is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2020]. 6369 GO:0005615, extracellular space, GO:0048020, GO:0048018, GO:0031728, GO:0008009, GO:0008009, GO:0005515, CCR chemokine receptor binding, receptor ligand activity, CCR3 chemokine receptor binding, chemokine activity, chemokine activity, protein binding, GO:2000418, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0050729, GO:0048247, GO:0048245, GO:0048245, GO:0045766, GO:0043547, GO:0043547, GO:0030838, GO:0030593, GO:0030335, GO:0008360, GO:0007267, GO:0007186, GO:0007165, GO:0007010, GO:0006955, GO:0006954, GO:0006935, GO:0002548, GO:0001938, positive regulation of eosinophil migration, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, positive regulation of inflammatory response, lymphocyte chemotaxis, eosinophil chemotaxis, eosinophil chemotaxis, positive regulation of angiogenesis, positive regulation of GTPase activity, positive regulation of GTPase activity, positive regulation of actin filament polymerization, neutrophil chemotaxis, positive regulation of cell migration, regulation of cell shape, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, cytoskeleton organization, immune response, inflammatory response, chemotaxis, monocyte chemotaxis, positive regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000106211 chr7 76302544 76304295 + HSPB1 protein_coding This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]. 3315 GO:1904115, GO:0070062, GO:0030018, GO:0005925, GO:0005886, GO:0005856, GO:0005829, GO:0005819, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0000502, axon cytoplasm, extracellular exosome, Z disc, focal adhesion, plasma membrane, cytoskeleton, cytosol, spindle, cytoplasm, cytoplasm, nucleus, extracellular space, proteasome complex, GO:0061629, GO:0044183, GO:0043130, GO:0042803, GO:0042802, GO:0042802, GO:0019901, GO:0008426, GO:0005515, GO:0005080, GO:0003723, RNA polymerase II-specific DNA-binding transcription factor binding, protein folding chaperone, ubiquitin binding, protein homodimerization activity, identical protein binding, identical protein binding, protein kinase binding, protein kinase C inhibitor activity, protein binding, protein kinase C binding, RNA binding, GO:2001028, GO:1902176, GO:0099641, GO:0071901, GO:0070527, GO:0061077, GO:0045766, GO:0043536, GO:0043488, GO:0043122, GO:0043066, GO:0038033, GO:0035924, GO:0035556, GO:0032760, GO:0032731, GO:0016032, GO:0010506, GO:0009615, GO:0006986, GO:0006469, GO:0006446, GO:0001932, GO:0001895, positive regulation of endothelial cell chemotaxis, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, anterograde axonal protein transport, negative regulation of protein serine/threonine kinase activity, platelet aggregation, chaperone-mediated protein folding, positive regulation of angiogenesis, positive regulation of blood vessel endothelial cell migration, regulation of mRNA stability, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway, cellular response to vascular endothelial growth factor stimulus, intracellular signal transduction, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 beta production, viral process, regulation of autophagy, response to virus, response to unfolded protein, negative regulation of protein kinase activity, regulation of translational initiation, regulation of protein phosphorylation, retina homeostasis, 26 32 130 84 67 181 47 48 61 ENSG00000106236 chr7 98617297 98629868 + NPTX2 protein_coding This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009]. 4885 GO:0098978, GO:0098978, GO:0005576, glutamatergic synapse, glutamatergic synapse, extracellular region, GO:0046872, GO:0030246, GO:0005515, GO:0003674, metal ion binding, carbohydrate binding, protein binding, molecular_function, GO:0098962, GO:0098962, GO:0008306, GO:0007268, regulation of postsynaptic neurotransmitter receptor activity, regulation of postsynaptic neurotransmitter receptor activity, associative learning, chemical synaptic transmission, 1 0 0 1 0 0 0 1 0 ENSG00000106244 chr7 99392048 99408829 - PDAP1 protein_coding The protein encoded by this gene is a phosphoprotein that may upregulate the PDGFA-stimulated growth of fibroblasts and also downregulate the mitogenicity of PDGFB. The encoded protein in rodents has been shown to bind PDGFA with a low affinity. [provided by RefSeq, Dec 2010]. 11333 GO:1904813, GO:0005886, GO:0005829, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, plasma membrane, cytosol, cytosol, extracellular region, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0043312, GO:0007165, neutrophil degranulation, signal transduction, 1513 1313 1694 630 1060 904 785 1004 772 ENSG00000106245 chr7 99408641 99419616 + BUD31 protein_coding 8896 GO:0071007, GO:0005681, GO:0005654, GO:0005634, GO:0000785, U2-type catalytic step 2 spliceosome, spliceosomal complex, nucleoplasm, nucleus, chromatin, GO:0035257, GO:0030374, GO:0005515, nuclear hormone receptor binding, nuclear receptor coactivator activity, protein binding, GO:2000825, GO:1903508, GO:0000398, GO:0000398, GO:0000398, positive regulation of androgen receptor activity, positive regulation of nucleic acid-templated transcription, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 704 532 799 487 644 651 487 523 473 ENSG00000106246 chr7 99416739 99466163 - PTCD1 protein_coding This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]. 26024 GO:0005759, GO:0005759, GO:0005739, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0005515, GO:0003723, GO:0000049, GO:0000049, protein binding, RNA binding, tRNA binding, tRNA binding, GO:0042780, GO:0042780, tRNA 3'-end processing, tRNA 3'-end processing, 297 230 367 271 349 317 275 266 253 ENSG00000106258 chr7 99648194 99680026 - CYP3A5 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 1577 GO:0043231, GO:0005789, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, GO:0101020, GO:0101020, GO:0070330, GO:0050649, GO:0020037, GO:0019825, GO:0016491, GO:0008401, GO:0008395, GO:0005515, GO:0005506, GO:0004497, estrogen 16-alpha-hydroxylase activity, estrogen 16-alpha-hydroxylase activity, aromatase activity, testosterone 6-beta-hydroxylase activity, heme binding, oxygen binding, oxidoreductase activity, retinoic acid 4-hydroxylase activity, steroid hydroxylase activity, protein binding, iron ion binding, monooxygenase activity, GO:0070989, GO:0070989, GO:0042737, GO:0042573, GO:0042572, GO:0009822, GO:0008210, GO:0008202, GO:0008202, GO:0006805, GO:0002933, oxidative demethylation, oxidative demethylation, drug catabolic process, retinoic acid metabolic process, retinol metabolic process, alkaloid catabolic process, estrogen metabolic process, steroid metabolic process, steroid metabolic process, xenobiotic metabolic process, lipid hydroxylation, 8 9 10 14 19 15 24 7 12 ENSG00000106261 chr7 100015572 100041689 + ZKSCAN1 protein_coding This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]. 7586 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 632 676 855 473 510 553 501 395 356 ENSG00000106263 chr7 2354086 2380745 + EIF3B protein_coding 8662 GO:0071541, GO:0070062, GO:0033290, GO:0016282, GO:0005852, GO:0005852, GO:0005829, eukaryotic translation initiation factor 3 complex, eIF3m, extracellular exosome, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, GO:0060090, GO:0031369, GO:0005515, GO:0003743, GO:0003743, GO:0003743, GO:0003743, GO:0003723, molecular adaptor activity, translation initiation factor binding, protein binding, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, RNA binding, GO:0075525, GO:0075522, GO:0006446, GO:0006413, GO:0006413, GO:0006413, GO:0006413, GO:0001732, viral translational termination-reinitiation, IRES-dependent viral translational initiation, regulation of translational initiation, translational initiation, translational initiation, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, 125 82 181 237 91 210 205 82 162 ENSG00000106266 chr7 2251770 2354318 - SNX8 protein_coding 29886 GO:0043231, GO:0031901, GO:0030904, GO:0005829, intracellular membrane-bounded organelle, early endosome membrane, retromer complex, cytosol, GO:0042802, GO:0035091, GO:0005515, identical protein binding, phosphatidylinositol binding, protein binding, GO:0034498, GO:0006886, early endosome to Golgi transport, intracellular protein transport, 8 25 12 26 17 30 23 17 24 ENSG00000106268 chr7 2242222 2251146 + NUDT1 protein_coding Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]. 4521 GO:0031965, GO:0005886, GO:0005829, GO:0005829, GO:0005759, GO:0005739, GO:0005737, GO:0005634, GO:0005615, GO:0001669, nuclear membrane, plasma membrane, cytosol, cytosol, mitochondrial matrix, mitochondrion, cytoplasm, nucleus, extracellular space, acrosomal vesicle, GO:0050072, GO:0047693, GO:0046872, GO:0036219, GO:0035539, GO:0030515, GO:0008828, GO:0008413, GO:0005515, GO:0003924, m7G(5')pppN diphosphatase activity, ATP diphosphatase activity, metal ion binding, GTP diphosphatase activity, 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity, snoRNA binding, dATP pyrophosphohydrolase activity, 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity, protein binding, GTPase activity, GO:0046686, GO:0046061, GO:0042262, GO:0034656, GO:0008584, GO:0007568, GO:0006979, GO:0006281, GO:0006203, GO:0006195, response to cadmium ion, dATP catabolic process, DNA protection, nucleobase-containing small molecule catabolic process, male gonad development, aging, response to oxidative stress, DNA repair, dGTP catabolic process, purine nucleotide catabolic process, 10 7 13 14 17 10 13 24 25 ENSG00000106278 chr7 121873089 122062036 + PTPRZ1 protein_coding This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]. 5803 GO:0072534, GO:0031226, GO:0005887, GO:0005886, GO:0005886, perineuronal net, intrinsic component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005178, GO:0005001, GO:0004725, GO:0004725, GO:0004725, protein binding, integrin binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0070445, GO:0048714, GO:0048709, GO:0043524, GO:0035335, GO:0035335, GO:0031641, GO:0019221, GO:0007611, GO:0007417, GO:0007409, GO:0006470, GO:0002244, regulation of oligodendrocyte progenitor proliferation, positive regulation of oligodendrocyte differentiation, oligodendrocyte differentiation, negative regulation of neuron apoptotic process, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, regulation of myelination, cytokine-mediated signaling pathway, learning or memory, central nervous system development, axonogenesis, protein dephosphorylation, hematopoietic progenitor cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000106290 chr7 100107070 100119841 - TAF6 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]. 6878 GO:0071339, GO:0046695, GO:0033276, GO:0032991, GO:0005829, GO:0005669, GO:0005669, GO:0005654, GO:0005654, GO:0000124, MLL1 complex, SLIK (SAGA-like) complex, transcription factor TFTC complex, protein-containing complex, cytosol, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, SAGA complex, GO:0046982, GO:0017162, GO:0016251, GO:0016251, GO:0016251, GO:0005515, GO:0003713, GO:0003677, protein heterodimerization activity, aryl hydrocarbon receptor binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, transcription coactivator activity, DNA binding, GO:1901796, GO:0045944, GO:0045786, GO:0042795, GO:0016573, GO:0006915, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006352, regulation of signal transduction by p53 class mediator, positive regulation of transcription by RNA polymerase II, negative regulation of cell cycle, snRNA transcription by RNA polymerase II, histone acetylation, apoptotic process, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, DNA-templated transcription, initiation, 155 172 200 122 206 148 168 149 107 ENSG00000106299 chr7 123681935 123749067 - WASL protein_coding This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]. 8976 GO:0070062, GO:0031410, GO:0030666, GO:0030478, GO:0030027, GO:0015629, GO:0005886, GO:0005884, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, cytoplasmic vesicle, endocytic vesicle membrane, actin cap, lamellipodium, actin cytoskeleton, plasma membrane, actin filament, cytosol, cytosol, nucleus, GO:0030695, GO:0005515, GO:0003779, GTPase regulator activity, protein binding, actin binding, GO:2000601, GO:2000402, GO:2000370, GO:1903526, GO:0065003, GO:0061024, GO:0060997, GO:0051653, GO:0051491, GO:0051301, GO:0050999, GO:0048013, GO:0045944, GO:0038096, GO:0034629, GO:0032880, GO:0030050, GO:0030048, GO:0030041, GO:0016050, GO:0009617, GO:0008154, GO:0006900, positive regulation of Arp2/3 complex-mediated actin nucleation, negative regulation of lymphocyte migration, positive regulation of clathrin-dependent endocytosis, negative regulation of membrane tubulation, protein-containing complex assembly, membrane organization, dendritic spine morphogenesis, spindle localization, positive regulation of filopodium assembly, cell division, regulation of nitric-oxide synthase activity, ephrin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, Fc-gamma receptor signaling pathway involved in phagocytosis, cellular protein-containing complex localization, regulation of protein localization, vesicle transport along actin filament, actin filament-based movement, actin filament polymerization, vesicle organization, response to bacterium, actin polymerization or depolymerization, vesicle budding from membrane, 57 36 97 61 53 62 66 36 79 ENSG00000106302 chr7 123828983 123877478 + HYAL4 protein_coding This gene encodes a protein which is similar in structure to hyaluronidases but lacks hyaluronidase activity. The encoded protein acts as a chondroitin-sulfate-specific endo-beta-N-acetylgalactosaminidase; that is, it exhibits hydrolytic activity toward chondroitin sulfate chains and degrades them into oligosaccharides. Proteoglycans are formed by the covalent linkage of chondroitin sulfate chains to protein. Proteoglycans are ubiquitous components of the extracellular matrix of connective tissues and are also found at the surface of many cell types where they participate in a variety of cellular processes such as cell proliferation, differentiation, migration, cell-cell recognition, extracellular matrix deposition, and tissue morphogenesis. The expression of this gene is highest in testes and placenta. [provided by RefSeq, Apr 2019]. 23553 GO:0031410, GO:0016021, GO:0009986, cytoplasmic vesicle, integral component of membrane, cell surface, GO:0004415, GO:0004415, hyalurononglucosaminidase activity, hyalurononglucosaminidase activity, GO:0030214, GO:0030207, GO:0006027, GO:0005975, hyaluronan catabolic process, chondroitin sulfate catabolic process, glycosaminoglycan catabolic process, carbohydrate metabolic process, 0 0 3 0 0 2 0 0 0 ENSG00000106304 chr7 123925237 123971414 + SPAM1 protein_coding Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 6677 GO:0031410, GO:0031225, GO:0005886, GO:0001669, cytoplasmic vesicle, anchored component of membrane, plasma membrane, acrosomal vesicle, GO:0004415, GO:0004415, hyalurononglucosaminidase activity, hyalurononglucosaminidase activity, GO:0035036, GO:0030214, GO:0007342, GO:0007339, GO:0007155, GO:0005975, sperm-egg recognition, hyaluronan catabolic process, fusion of sperm to egg plasma membrane involved in single fertilization, binding of sperm to zona pellucida, cell adhesion, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000106305 chr7 6009245 6023834 + AIMP2 protein_coding The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]. 7965 GO:0017101, GO:0017101, GO:0016020, GO:0005829, GO:0005829, GO:0005634, aminoacyl-tRNA synthetase multienzyme complex, aminoacyl-tRNA synthetase multienzyme complex, membrane, cytosol, cytosol, nucleus, GO:0060090, GO:0005515, molecular adaptor activity, protein binding, GO:1903632, GO:1901216, GO:0065003, GO:0060510, GO:0031398, GO:0008285, GO:0006915, GO:0006418, positive regulation of aminoacyl-tRNA ligase activity, positive regulation of neuron death, protein-containing complex assembly, type II pneumocyte differentiation, positive regulation of protein ubiquitination, negative regulation of cell population proliferation, apoptotic process, tRNA aminoacylation for protein translation, 17 25 21 26 18 15 18 16 15 ENSG00000106327 chr7 100620416 100642779 - TFR2 protein_coding This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]. 7036 GO:1990712, GO:0031410, GO:0009897, GO:0009897, GO:0005887, GO:0005887, GO:0005886, HFE-transferrin receptor complex, cytoplasmic vesicle, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0039706, GO:0005515, GO:0004998, GO:0004998, co-receptor binding, protein binding, transferrin receptor activity, transferrin receptor activity, GO:1903319, GO:0140298, GO:0140298, GO:0090277, GO:0071281, GO:0055072, GO:0055072, GO:0045944, GO:0045807, GO:0033572, GO:0033572, GO:0010039, GO:0006953, GO:0006898, GO:0006879, GO:0006826, positive regulation of protein maturation, endocytic iron import into cell, endocytic iron import into cell, positive regulation of peptide hormone secretion, cellular response to iron ion, iron ion homeostasis, iron ion homeostasis, positive regulation of transcription by RNA polymerase II, positive regulation of endocytosis, transferrin transport, transferrin transport, response to iron ion, acute-phase response, receptor-mediated endocytosis, cellular iron ion homeostasis, iron ion transport, 0 0 7 5 3 10 5 3 2 ENSG00000106328 chr7 127591409 127602144 + FSCN3 protein_coding 29999 GO:0031253, GO:0030426, GO:0030175, GO:0030027, GO:0015629, GO:0015629, GO:0005902, GO:0005856, GO:0005737, GO:0001726, cell projection membrane, growth cone, filopodium, lamellipodium, actin cytoskeleton, actin cytoskeleton, microvillus, cytoskeleton, cytoplasm, ruffle, GO:0051015, GO:0030674, actin filament binding, protein-macromolecule adaptor activity, GO:0051017, GO:0016477, GO:0007286, GO:0007163, actin filament bundle assembly, cell migration, spermatid development, establishment or maintenance of cell polarity, 16 15 13 48 62 51 22 24 30 ENSG00000106330 chr7 100612102 100615384 + MOSPD3 protein_coding This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008]. 64598 GO:0016021, GO:0005886, GO:0005789, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, GO:0033149, GO:0005515, FFAT motif binding, protein binding, GO:0090158, GO:0061817, GO:0007507, endoplasmic reticulum membrane organization, endoplasmic reticulum-plasma membrane tethering, heart development, 42 34 46 35 53 40 18 18 40 ENSG00000106331 chr7 127610292 127618114 - PAX4 protein_coding This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]. 5078 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0003677, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048856, GO:0031018, GO:0030154, GO:0009887, GO:0006357, anatomical structure development, endocrine pancreas development, cell differentiation, animal organ morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000106333 chr7 100602177 100608175 + PCOLCE protein_coding Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]. 5118 GO:0070062, GO:0062023, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, extracellular space, extracellular region, GO:0016504, GO:0008201, GO:0005518, GO:0005515, GO:0005201, peptidase activator activity, heparin binding, collagen binding, protein binding, extracellular matrix structural constituent, GO:1990830, GO:0010952, GO:0007275, GO:0006508, cellular response to leukemia inhibitory factor, positive regulation of peptidase activity, multicellular organism development, proteolysis, 11 10 15 16 3 26 4 4 10 ENSG00000106336 chr7 100583982 100601117 + FBXO24 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]. 26261 GO:0000151, ubiquitin ligase complex, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0016567, protein ubiquitination, 5 11 20 13 11 6 9 16 0 ENSG00000106341 chr7 31686715 31708455 + PPP1R17 protein_coding The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 10842 GO:0004865, protein serine/threonine phosphatase inhibitor activity, GO:0035556, GO:0032515, GO:0010921, GO:0010921, GO:0007417, intracellular signal transduction, negative regulation of phosphoprotein phosphatase activity, regulation of phosphatase activity, regulation of phosphatase activity, central nervous system development, 1 0 0 0 0 0 1 0 0 ENSG00000106344 chr7 128297685 128343908 - RBM28 protein_coding The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 55131 GO:0005730, GO:0005681, nucleolus, spliceosomal complex, GO:0003723, RNA binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 95 115 147 138 77 106 122 86 115 ENSG00000106346 chr7 6104884 6161564 + USP42 protein_coding 84132 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0005515, GO:0004843, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0030154, GO:0016579, GO:0016579, GO:0016579, GO:0016579, GO:0007283, GO:0006511, regulation of apoptotic process, cell differentiation, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, spermatogenesis, ubiquitin-dependent protein catabolic process, 577 400 736 323 312 431 305 238 354 ENSG00000106348 chr7 128392277 128410252 - IMPDH1 protein_coding The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 3614 GO:1904813, GO:0035578, GO:0034774, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, azurophil granule lumen, secretory granule lumen, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0046872, GO:0003938, GO:0003723, GO:0003677, GO:0003676, GO:0000166, metal ion binding, IMP dehydrogenase activity, RNA binding, DNA binding, nucleic acid binding, nucleotide binding, GO:0055114, GO:0046651, GO:0043312, GO:0009168, GO:0006183, GO:0006177, oxidation-reduction process, lymphocyte proliferation, neutrophil degranulation, purine ribonucleoside monophosphate biosynthetic process, GTP biosynthetic process, GMP biosynthetic process, 3118 2608 3665 1791 2357 1933 2113 1893 1776 ENSG00000106351 chr7 100539211 100568219 + AGFG2 protein_coding This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013]. 3268 GO:0016020, membrane, GO:0046872, GO:0005096, GO:0003674, metal ion binding, GTPase activator activity, molecular_function, GO:0043547, GO:0008150, positive regulation of GTPase activity, biological_process, 19 16 26 90 31 111 66 26 73 ENSG00000106355 chr7 32485332 32495283 - LSM5 protein_coding Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]. 23658 GO:1990726, GO:0120115, GO:0071005, GO:0046540, GO:0046540, GO:0005829, GO:0005737, GO:0005688, GO:0005654, GO:0005634, Lsm1-7-Pat1 complex, Lsm2-8 complex, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, cytosol, cytoplasm, U6 snRNP, nucleoplasm, nucleus, GO:0046982, GO:0005515, GO:0003723, protein heterodimerization activity, protein binding, RNA binding, GO:0043928, GO:0009617, GO:0006402, GO:0006397, GO:0000398, GO:0000398, GO:0000398, exonucleolytic catabolism of deadenylated mRNA, response to bacterium, mRNA catabolic process, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 16 5 20 46 23 33 21 18 34 ENSG00000106366 chr7 101127089 101139266 + SERPINE1 protein_coding This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020]. 5054 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0031093, GO:0005886, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet alpha granule lumen, plasma membrane, extracellular space, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005102, GO:0004867, GO:0004867, GO:0002020, protein binding, signaling receptor binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, GO:2000352, GO:2000098, GO:1902042, GO:1901331, GO:0097187, GO:0090399, GO:0090026, GO:0071222, GO:0061045, GO:0061044, GO:0051918, GO:0050829, GO:0050729, GO:0048260, GO:0045944, GO:0045766, GO:0042730, GO:0035491, GO:0033629, GO:0032757, GO:0030336, GO:0030198, GO:0030195, GO:0030194, GO:0014912, GO:0010951, GO:0010951, GO:0010757, GO:0010757, GO:0010469, GO:0007623, GO:0002576, GO:0001525, negative regulation of endothelial cell apoptotic process, negative regulation of smooth muscle cell-matrix adhesion, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of odontoblast differentiation, dentinogenesis, replicative senescence, positive regulation of monocyte chemotaxis, cellular response to lipopolysaccharide, negative regulation of wound healing, negative regulation of vascular wound healing, negative regulation of fibrinolysis, defense response to Gram-negative bacterium, positive regulation of inflammatory response, positive regulation of receptor-mediated endocytosis, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, fibrinolysis, positive regulation of leukotriene production involved in inflammatory response, negative regulation of cell adhesion mediated by integrin, positive regulation of interleukin-8 production, negative regulation of cell migration, extracellular matrix organization, negative regulation of blood coagulation, positive regulation of blood coagulation, negative regulation of smooth muscle cell migration, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, negative regulation of plasminogen activation, negative regulation of plasminogen activation, regulation of signaling receptor activity, circadian rhythm, platelet degranulation, angiogenesis, 1 1 3 2 6 16 2 3 7 ENSG00000106367 chr7 101154400 101161596 + AP1S1 protein_coding The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]. 1174 GO:0043231, GO:0043231, GO:0043195, GO:0032588, GO:0030659, GO:0030121, GO:0016020, GO:0005905, GO:0005829, GO:0005794, GO:0005765, GO:0000139, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, terminal bouton, trans-Golgi network membrane, cytoplasmic vesicle membrane, AP-1 adaptor complex, membrane, clathrin-coated pit, cytosol, Golgi apparatus, lysosomal membrane, Golgi membrane, GO:0050690, GO:0042147, GO:0019886, GO:0016192, GO:0009615, GO:0006898, GO:0006886, regulation of defense response to virus by virus, retrograde transport, endosome to Golgi, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, response to virus, receptor-mediated endocytosis, intracellular protein transport, 13 5 15 12 7 44 28 10 16 ENSG00000106384 chr7 101195007 101201038 - MOGAT3 protein_coding Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008]. 346606 GO:1990578, GO:0016021, GO:0005789, GO:0005789, GO:0005789, perinuclear endoplasmic reticulum membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0008374, GO:0004144, GO:0004144, GO:0003846, O-acyltransferase activity, diacylglycerol O-acyltransferase activity, diacylglycerol O-acyltransferase activity, 2-acylglycerol O-acyltransferase activity, GO:0019432, GO:0019432, GO:0019432, GO:0019432, GO:0006640, GO:0006629, GO:0006071, triglyceride biosynthetic process, triglyceride biosynthetic process, triglyceride biosynthetic process, triglyceride biosynthetic process, monoacylglycerol biosynthetic process, lipid metabolic process, glycerol metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000106392 chr7 7156934 7248651 + C1GALT1 protein_coding The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]. 56913 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0046872, GO:0016263, GO:0016263, GO:0005515, metal ion binding, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity, protein binding, GO:0060576, GO:0016267, GO:0016266, GO:0001822, GO:0001525, intestinal epithelial cell development, O-glycan processing, core 1, O-glycan processing, kidney development, angiogenesis, 789 438 739 422 343 482 496 273 410 ENSG00000106397 chr7 101205977 101218420 - PLOD3 protein_coding The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]. 8985 GO:0070062, GO:0062023, GO:0005802, GO:0005794, GO:0005791, GO:0005789, GO:0005788, GO:0005783, GO:0005783, GO:0005783, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, trans-Golgi network, Golgi apparatus, rough endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, extracellular space, GO:0050211, GO:0050211, GO:0033823, GO:0033823, GO:0031418, GO:0008475, GO:0008475, GO:0008475, GO:0005515, GO:0005506, procollagen galactosyltransferase activity, procollagen galactosyltransferase activity, procollagen glucosyltransferase activity, procollagen glucosyltransferase activity, L-ascorbic acid binding, procollagen-lysine 5-dioxygenase activity, procollagen-lysine 5-dioxygenase activity, procollagen-lysine 5-dioxygenase activity, protein binding, iron ion binding, GO:0070831, GO:0060425, GO:0055114, GO:0048730, GO:0046947, GO:0042311, GO:0032963, GO:0032870, GO:0030199, GO:0021915, GO:0017185, GO:0017185, GO:0017185, GO:0008104, GO:0006493, GO:0001886, GO:0001701, basement membrane assembly, lung morphogenesis, oxidation-reduction process, epidermis morphogenesis, hydroxylysine biosynthetic process, vasodilation, collagen metabolic process, cellular response to hormone stimulus, collagen fibril organization, neural tube development, peptidyl-lysine hydroxylation, peptidyl-lysine hydroxylation, peptidyl-lysine hydroxylation, protein localization, protein O-linked glycosylation, endothelial cell morphogenesis, in utero embryonic development, 49 56 71 86 68 65 47 59 61 ENSG00000106399 chr7 7636518 7718607 - RPA3 protein_coding 6119 GO:0035861, GO:0005662, GO:0005662, GO:0005654, site of double-strand break, DNA replication factor A complex, DNA replication factor A complex, nucleoplasm, GO:0005515, GO:0003697, GO:0003697, GO:0003684, GO:0003684, protein binding, single-stranded DNA binding, single-stranded DNA binding, damaged DNA binding, damaged DNA binding, GO:1901796, GO:1900034, GO:0070987, GO:0042769, GO:0042276, GO:0042127, GO:0036297, GO:0033683, GO:0032201, GO:0019985, GO:0007346, GO:0006298, GO:0006298, GO:0006297, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006289, GO:0006284, GO:0006284, GO:0006283, GO:0006260, GO:0006260, GO:0006260, GO:0000724, GO:0000724, GO:0000723, GO:0000082, regulation of signal transduction by p53 class mediator, regulation of cellular response to heat, error-free translesion synthesis, DNA damage response, detection of DNA damage, error-prone translesion synthesis, regulation of cell population proliferation, interstrand cross-link repair, nucleotide-excision repair, DNA incision, telomere maintenance via semi-conservative replication, translesion synthesis, regulation of mitotic cell cycle, mismatch repair, mismatch repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, nucleotide-excision repair, base-excision repair, base-excision repair, transcription-coupled nucleotide-excision repair, DNA replication, DNA replication, DNA replication, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance, G1/S transition of mitotic cell cycle, 84 44 77 60 64 98 40 52 80 ENSG00000106400 chr7 101217668 101224190 + ZNHIT1 protein_coding 10467 GO:0005654, GO:0005634, GO:0000812, nucleoplasm, nucleus, Swr1 complex, GO:0046872, GO:0042826, GO:0031491, GO:0005515, metal ion binding, histone deacetylase binding, nucleosome binding, protein binding, GO:0043486, GO:0031063, histone exchange, regulation of histone deacetylation, 268 335 341 249 435 330 354 333 337 ENSG00000106404 chr7 101232092 101238820 - CLDN15 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]. 24146 GO:0016021, GO:0005923, GO:0005923, GO:0005886, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, GO:0042802, GO:0005198, identical protein binding, structural molecule activity, GO:0070830, GO:0016338, GO:0007155, GO:0006811, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, ion transport, 80 127 131 144 221 151 137 148 172 ENSG00000106410 chr7 144397240 144410227 - NOBOX protein_coding This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011]. 135935 GO:0000785, chromatin, GO:0043565, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048477, GO:0006357, GO:0006357, oogenesis, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000106415 chr7 7968794 8094272 + GLCCI1 protein_coding This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]. 113263 GO:0005737, cytoplasm, 200 157 240 181 190 277 200 151 197 ENSG00000106436 chr7 101613325 101629296 - MYL10 protein_coding 93408 GO:0005829, GO:0005739, cytosol, mitochondrion, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0006936, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000106443 chr7 10973336 11169630 + PHF14 protein_coding 9678 GO:0070776, MOZ/MORF histone acetyltransferase complex, GO:0046872, GO:0043994, GO:0042393, GO:0005515, metal ion binding, histone acetyltransferase activity (H3-K23 specific), histone binding, protein binding, GO:2000791, GO:2000584, GO:0048286, GO:0044154, GO:0043972, GO:0006357, GO:0000122, negative regulation of mesenchymal cell proliferation involved in lung development, negative regulation of platelet-derived growth factor receptor-alpha signaling pathway, lung alveolus development, histone H3-K14 acetylation, histone H3-K23 acetylation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 30 19 42 96 29 131 61 26 59 ENSG00000106459 chr7 129611714 129757082 + NRF1 protein_coding This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for 'nuclear factor (erythroid-derived 2)-like 1' which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]. 4899 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042803, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000978, protein homodimerization activity, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0007005, GO:0006357, positive regulation of transcription by RNA polymerase II, mitochondrion organization, regulation of transcription by RNA polymerase II, 217 197 206 120 137 222 168 117 144 ENSG00000106460 chr7 12211241 12243367 + TMEM106B protein_coding 54664 GO:0031902, GO:0016021, GO:0005768, GO:0005765, GO:0005765, GO:0005764, late endosome membrane, integral component of membrane, endosome, lysosomal membrane, lysosomal membrane, lysosome, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1900006, GO:0048813, GO:0048813, GO:0032418, GO:0032418, GO:0007041, GO:0007040, positive regulation of dendrite development, dendrite morphogenesis, dendrite morphogenesis, lysosome localization, lysosome localization, lysosomal transport, lysosome organization, 208 252 393 124 116 159 154 69 156 ENSG00000106462 chr7 148807383 148884321 - EZH2 protein_coding This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]. 2146 GO:0045120, GO:0035098, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000781, pronucleus, ESC/E(Z) complex, cytoplasm, nucleoplasm, nucleus, chromatin, chromosome, telomeric region, GO:1990841, GO:0070878, GO:0046976, GO:0046976, GO:0043021, GO:0042054, GO:0042054, GO:0031490, GO:0018024, GO:0018024, GO:0016279, GO:0005515, GO:0003714, GO:0003682, GO:0001226, GO:0000979, GO:0000978, promoter-specific chromatin binding, primary miRNA binding, histone methyltransferase activity (H3-K27 specific), histone methyltransferase activity (H3-K27 specific), ribonucleoprotein complex binding, histone methyltransferase activity, histone methyltransferase activity, chromatin DNA binding, histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, transcription corepressor activity, chromatin binding, RNA polymerase II transcription corepressor binding, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000134, GO:1904772, GO:1902808, GO:1900006, GO:0098532, GO:0097421, GO:0071902, GO:0071168, GO:0070734, GO:0070317, GO:0070314, GO:0070301, GO:0051154, GO:0048511, GO:0048387, GO:0045892, GO:0045814, GO:0045814, GO:0045814, GO:0045605, GO:0043547, GO:0043433, GO:0043406, GO:0042752, GO:0036333, GO:0035984, GO:0034244, GO:0032355, GO:0021766, GO:0021695, GO:0016571, GO:0014898, GO:0014834, GO:0014013, GO:0010718, GO:0008284, GO:0006355, GO:0006348, GO:0006325, GO:0006306, GO:0000122, negative regulation of G1/S transition of mitotic cell cycle, response to tetrachloromethane, positive regulation of cell cycle G1/S phase transition, positive regulation of dendrite development, histone H3-K27 trimethylation, liver regeneration, positive regulation of protein serine/threonine kinase activity, protein localization to chromatin, histone H3-K27 methylation, negative regulation of G0 to G1 transition, G1 to G0 transition, cellular response to hydrogen peroxide, negative regulation of striated muscle cell differentiation, rhythmic process, negative regulation of retinoic acid receptor signaling pathway, negative regulation of transcription, DNA-templated, negative regulation of gene expression, epigenetic, negative regulation of gene expression, epigenetic, negative regulation of gene expression, epigenetic, negative regulation of epidermal cell differentiation, positive regulation of GTPase activity, negative regulation of DNA-binding transcription factor activity, positive regulation of MAP kinase activity, regulation of circadian rhythm, hepatocyte homeostasis, cellular response to trichostatin A, negative regulation of transcription elongation from RNA polymerase II promoter, response to estradiol, hippocampus development, cerebellar cortex development, histone methylation, cardiac muscle hypertrophy in response to stress, skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration, regulation of gliogenesis, positive regulation of epithelial to mesenchymal transition, positive regulation of cell population proliferation, regulation of transcription, DNA-templated, chromatin silencing at telomere, chromatin organization, DNA methylation, negative regulation of transcription by RNA polymerase II, 30 14 115 55 29 81 65 23 54 ENSG00000106477 chr7 130393771 130442433 - CEP41 protein_coding This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 95681 GO:0036064, GO:0016020, GO:0005929, GO:0005829, GO:0005814, GO:0005813, ciliary basal body, membrane, cilium, cytosol, centriole, centrosome, GO:0005515, protein binding, GO:0097711, GO:0060271, GO:0018095, GO:0015031, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, cilium assembly, protein polyglutamylation, protein transport, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 2 2 7 15 5 11 27 3 13 ENSG00000106479 chr7 149838367 149867479 + ZNF862 protein_coding 643641 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0046983, GO:0046872, GO:0003674, protein dimerization activity, metal ion binding, molecular_function, GO:0008150, GO:0006355, biological_process, regulation of transcription, DNA-templated, 153 136 198 275 226 316 266 160 251 ENSG00000106483 chr7 37905932 38025695 - SFRP4 protein_coding Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]. 6424 GO:0009986, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0005615, cell surface, cytoplasm, cytoplasm, nucleus, extracellular space, extracellular space, GO:0017147, GO:0017147, GO:0017147, GO:0017147, GO:0005515, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, protein binding, GO:2000119, GO:2000051, GO:1902174, GO:0090263, GO:0090090, GO:0090090, GO:0090090, GO:0060349, GO:0060070, GO:0055062, GO:0045606, GO:0043433, GO:0043065, GO:0035567, GO:0030510, GO:0030178, GO:0030154, GO:0010628, GO:0009725, GO:0008285, GO:0002092, negative regulation of sodium-dependent phosphate transport, negative regulation of non-canonical Wnt signaling pathway, positive regulation of keratinocyte apoptotic process, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, bone morphogenesis, canonical Wnt signaling pathway, phosphate ion homeostasis, positive regulation of epidermal cell differentiation, negative regulation of DNA-binding transcription factor activity, positive regulation of apoptotic process, non-canonical Wnt signaling pathway, regulation of BMP signaling pathway, negative regulation of Wnt signaling pathway, cell differentiation, positive regulation of gene expression, response to hormone, negative regulation of cell population proliferation, positive regulation of receptor internalization, 1 0 1 0 0 0 0 1 0 ENSG00000106484 chr7 130486171 130506465 + MEST protein_coding This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]. 4232 GO:0070062, GO:0016021, GO:0005789, GO:0005783, GO:0005783, extracellular exosome, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0016787, GO:0005515, hydrolase activity, protein binding, GO:0010883, GO:0007498, regulation of lipid storage, mesoderm development, 5 10 0 8 6 2 2 6 5 ENSG00000106511 chr7 15611212 15686812 - MEOX2 protein_coding This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq, Jul 2008]. 4223 GO:0016607, GO:0005737, GO:0005634, GO:0005634, GO:0000785, nuclear speck, cytoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0043565, GO:0005515, GO:0003700, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090051, GO:0061053, GO:0060173, GO:0060021, GO:0045944, GO:0045944, GO:0008015, GO:0007519, GO:0007275, GO:0006357, GO:0001757, GO:0001525, negative regulation of cell migration involved in sprouting angiogenesis, somite development, limb development, roof of mouth development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, blood circulation, skeletal muscle tissue development, multicellular organism development, regulation of transcription by RNA polymerase II, somite specification, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000106524 chr7 16599776 16645817 - ANKMY2 protein_coding 57037 GO:0005929, cilium, GO:0046872, GO:0019899, GO:0005515, metal ion binding, enzyme binding, protein binding, 81 63 73 69 80 112 94 59 78 ENSG00000106526 chr7 150243916 150323725 - ACTR3C protein_coding 653857 GO:0070062, GO:0005885, extracellular exosome, Arp2/3 protein complex, GO:0051015, GO:0005524, GO:0003674, actin filament binding, ATP binding, molecular_function, GO:0034314, GO:0008150, Arp2/3 complex-mediated actin nucleation, biological_process, 10 11 31 9 1 19 8 6 13 ENSG00000106536 chr7 38977998 39493095 + POU6F2 protein_coding This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 11281 GO:0000785, GO:0000785, chromatin, chromatin, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007601, GO:0007417, GO:0007402, GO:0006366, GO:0006357, GO:0006355, visual perception, central nervous system development, ganglion mother cell fate determination, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000106537 chr7 16753535 16784536 + TSPAN13 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]. 27075 GO:0016020, GO:0005887, membrane, integral component of plasma membrane, GO:0005246, calcium channel regulator activity, GO:1903169, regulation of calcium ion transmembrane transport, 137 69 37 46 40 16 38 49 10 ENSG00000106538 chr7 150338317 150341674 - RARRES2 protein_coding This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]. 5919 GO:0062023, GO:0031089, GO:0031012, GO:0005615, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, platelet dense granule lumen, extracellular matrix, extracellular space, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005102, GO:0005102, protein binding, signaling receptor binding, signaling receptor binding, GO:0061771, GO:0061760, GO:0050994, GO:0050994, GO:0050921, GO:0050921, GO:0050830, GO:0050829, GO:0048566, GO:0045600, GO:0045087, GO:0045087, GO:0030154, GO:0019732, GO:0014823, GO:0010759, GO:0008286, GO:0006954, GO:0006935, GO:0003084, GO:0002576, GO:0001934, GO:0001523, response to caloric restriction, antifungal innate immune response, regulation of lipid catabolic process, regulation of lipid catabolic process, positive regulation of chemotaxis, positive regulation of chemotaxis, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, embryonic digestive tract development, positive regulation of fat cell differentiation, innate immune response, innate immune response, cell differentiation, antifungal humoral response, response to activity, positive regulation of macrophage chemotaxis, insulin receptor signaling pathway, inflammatory response, chemotaxis, positive regulation of systemic arterial blood pressure, platelet degranulation, positive regulation of protein phosphorylation, retinoid metabolic process, 1 0 1 0 0 0 1 1 2 ENSG00000106540 chr7 39609717 39610280 + AC004837.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000106541 chr7 16791811 16833433 - AGR2 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]. 10551 GO:0005783, GO:0005783, GO:0005783, GO:0005615, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, extracellular space, GO:0042802, GO:0005515, GO:0005154, GO:0002162, GO:0002162, identical protein binding, protein binding, epidermal growth factor receptor binding, dystroglycan binding, dystroglycan binding, GO:1903899, GO:1903896, GO:1903078, GO:0070254, GO:0060548, GO:0060548, GO:0060480, GO:0048639, GO:0048546, GO:0045742, GO:0034976, GO:0010811, GO:0010628, positive regulation of PERK-mediated unfolded protein response, positive regulation of IRE1-mediated unfolded protein response, positive regulation of protein localization to plasma membrane, mucus secretion, negative regulation of cell death, negative regulation of cell death, lung goblet cell differentiation, positive regulation of developmental growth, digestive tract morphogenesis, positive regulation of epidermal growth factor receptor signaling pathway, response to endoplasmic reticulum stress, positive regulation of cell-substrate adhesion, positive regulation of gene expression, 0 0 0 2 0 0 0 0 0 ENSG00000106546 chr7 16916359 17346152 + AHR protein_coding The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]. 196 GO:0034752, GO:0034751, GO:0032991, GO:0005829, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosolic aryl hydrocarbon receptor complex, aryl hydrocarbon receptor complex, protein-containing complex, cytosol, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0070888, GO:0051879, GO:0046982, GO:0042803, GO:0017025, GO:0008134, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0003677, GO:0003677, GO:0001223, GO:0001094, GO:0000987, GO:0000981, GO:0000976, GO:0000976, sequence-specific double-stranded DNA binding, E-box binding, Hsp90 protein binding, protein heterodimerization activity, protein homodimerization activity, TBP-class protein binding, transcription factor binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA binding, DNA binding, transcription coactivator binding, TFIID-class transcription factor complex binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1904613, GO:1904322, GO:0071320, GO:0045893, GO:0045892, GO:0032922, GO:0030888, GO:0030522, GO:0019933, GO:0010468, GO:0009636, GO:0009410, GO:0007049, GO:0006915, GO:0006805, GO:0006357, GO:0006357, GO:0006355, GO:0001568, cellular response to 2,3,7,8-tetrachlorodibenzodioxine, cellular response to forskolin, cellular response to cAMP, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, circadian regulation of gene expression, regulation of B cell proliferation, intracellular receptor signaling pathway, cAMP-mediated signaling, regulation of gene expression, response to toxic substance, response to xenobiotic stimulus, cell cycle, apoptotic process, xenobiotic metabolic process, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, blood vessel development, 47 42 120 102 38 122 94 17 75 ENSG00000106554 chr7 132784868 133082088 - CHCHD3 protein_coding The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 54927 GO:0140275, GO:0070062, GO:0061617, GO:0061617, GO:0061617, GO:0005743, GO:0005739, GO:0005739, GO:0005739, GO:0005634, GO:0001401, MIB complex, extracellular exosome, MICOS complex, MICOS complex, MICOS complex, mitochondrial inner membrane, mitochondrion, mitochondrion, mitochondrion, nucleus, SAM complex, GO:0060090, GO:0019902, GO:0005515, molecular adaptor activity, phosphatase binding, protein binding, GO:0042407, GO:0008053, GO:0007007, GO:0007007, GO:0007007, cristae formation, mitochondrial fusion, inner mitochondrial membrane organization, inner mitochondrial membrane organization, inner mitochondrial membrane organization, 30 18 47 78 57 136 63 36 63 ENSG00000106560 chr7 150685697 150693641 + GIMAP2 protein_coding This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]. 26157 GO:0005811, GO:0005783, lipid droplet, endoplasmic reticulum, GO:0042802, GO:0005525, GO:0005515, identical protein binding, GTP binding, protein binding, 108 59 165 180 114 287 148 112 190 ENSG00000106565 chr7 150791285 150801360 - TMEM176B protein_coding 28959 GO:0031965, GO:0016021, nuclear membrane, integral component of membrane, GO:0005515, protein binding, GO:2001199, GO:2001199, GO:0030154, GO:0009887, negative regulation of dendritic cell differentiation, negative regulation of dendritic cell differentiation, cell differentiation, animal organ morphogenesis, 1 10 19 7 21 45 9 21 30 ENSG00000106571 chr7 41960950 42237870 - GLI3 protein_coding This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]. 2737 GO:0097546, GO:0097542, GO:0017053, GO:0016607, GO:0005930, GO:0005929, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, ciliary base, ciliary tip, transcription repressor complex, nuclear speck, axoneme, cilium, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0046872, GO:0042826, GO:0036033, GO:0035035, GO:0008013, GO:0005515, GO:0003700, GO:0003682, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, histone deacetylase binding, mediator complex binding, histone acetyltransferase binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1903010, GO:1901620, GO:0120223, GO:0097421, GO:0090090, GO:0071625, GO:0070242, GO:0061005, GO:0060875, GO:0060873, GO:0060840, GO:0060831, GO:0060594, GO:0060367, GO:0060366, GO:0060364, GO:0060021, GO:0048709, GO:0048702, GO:0048593, GO:0048589, GO:0048566, GO:0048557, GO:0046639, GO:0046638, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045879, GO:0045669, GO:0045665, GO:0045060, GO:0043627, GO:0043586, GO:0043585, GO:0043066, GO:0042733, GO:0042475, GO:0042307, GO:0042060, GO:0035108, GO:0033077, GO:0032332, GO:0030850, GO:0030324, GO:0030318, GO:0022018, GO:0021861, GO:0021819, GO:0021798, GO:0021776, GO:0021775, GO:0021766, GO:0021631, GO:0016485, GO:0009954, GO:0009952, GO:0008285, GO:0007507, GO:0007442, GO:0007411, GO:0007224, GO:0007224, GO:0007224, GO:0006357, GO:0002052, GO:0001701, GO:0001658, GO:0001656, GO:0000122, regulation of bone development, regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, larynx morphogenesis, liver regeneration, negative regulation of canonical Wnt signaling pathway, vocalization behavior, thymocyte apoptotic process, cell differentiation involved in kidney development, lateral semicircular canal development, anterior semicircular canal development, artery development, smoothened signaling pathway involved in dorsal/ventral neural tube patterning, mammary gland specification, sagittal suture morphogenesis, lambdoid suture morphogenesis, frontal suture morphogenesis, roof of mouth development, oligodendrocyte differentiation, embryonic neurocranium morphogenesis, camera-type eye morphogenesis, developmental growth, embryonic digestive tract development, embryonic digestive tract morphogenesis, negative regulation of alpha-beta T cell differentiation, positive regulation of alpha-beta T cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of smoothened signaling pathway, positive regulation of osteoblast differentiation, negative regulation of neuron differentiation, negative thymic T cell selection, response to estrogen, tongue development, nose morphogenesis, negative regulation of apoptotic process, embryonic digit morphogenesis, odontogenesis of dentin-containing tooth, positive regulation of protein import into nucleus, wound healing, limb morphogenesis, T cell differentiation in thymus, positive regulation of chondrocyte differentiation, prostate gland development, lung development, melanocyte differentiation, lateral ganglionic eminence cell proliferation, forebrain radial glial cell differentiation, layer formation in cerebral cortex, forebrain dorsal/ventral pattern formation, smoothened signaling pathway involved in spinal cord motor neuron cell fate specification, smoothened signaling pathway involved in ventral spinal cord interneuron specification, hippocampus development, optic nerve morphogenesis, protein processing, proximal/distal pattern formation, anterior/posterior pattern specification, negative regulation of cell population proliferation, heart development, hindgut morphogenesis, axon guidance, smoothened signaling pathway, smoothened signaling pathway, smoothened signaling pathway, regulation of transcription by RNA polymerase II, positive regulation of neuroblast proliferation, in utero embryonic development, branching involved in ureteric bud morphogenesis, metanephros development, negative regulation of transcription by RNA polymerase II, 0 0 0 2 1 0 0 2 0 ENSG00000106588 chr7 42916857 42932223 - PSMA2 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008]. 5683 GO:1904813, GO:0070062, GO:0034774, GO:0019773, GO:0019773, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000932, GO:0000502, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular region, P-body, proteasome complex, GO:0005515, GO:0004175, protein binding, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010499, GO:0009615, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, response to virus, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 25 29 39 19 17 20 28 15 18 ENSG00000106591 chr7 42932200 42948958 + MRPL32 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]. 64983 GO:0005762, GO:0005762, GO:0005761, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 45 39 70 62 39 110 58 29 45 ENSG00000106603 chr7 43608456 43729717 - COA1 protein_coding 55744 GO:0031305, GO:0031305, GO:0005829, GO:0005739, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, cytosol, mitochondrion, GO:0033617, GO:0033617, GO:0032981, GO:0032981, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, 452 546 659 280 549 495 351 429 365 ENSG00000106605 chr7 43758680 43807342 + BLVRA protein_coding The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]. 644 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0106277, GO:0106276, GO:0008270, GO:0005515, GO:0004074, GO:0004074, biliverdin reductase (NADP+) activity, biliberdin reductase NAD+ activity, zinc ion binding, protein binding, biliverdin reductase (NAD(P)+) activity, biliverdin reductase (NAD(P)+) activity, GO:0055114, GO:0042167, oxidation-reduction process, heme catabolic process, 58 16 45 48 30 40 53 23 50 ENSG00000106608 chr7 43875894 43926411 - URGCP protein_coding URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]. 55665 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005525, GTP binding, GO:0007049, cell cycle, 21 22 56 48 10 52 40 16 30 ENSG00000106609 chr7 66921225 66958551 + TMEM248 protein_coding 55069 GO:0016021, integral component of membrane, GO:0005515, protein binding, 609 655 690 298 434 365 272 322 369 ENSG00000106610 chr7 67302621 67362950 + STAG3L4 transcribed_unprocessed_pseudogene 64940 GO:0008278, GO:0005634, GO:0000785, cohesin complex, nucleus, chromatin, GO:0003682, chromatin binding, GO:0007062, sister chromatid cohesion, 45 57 64 35 87 80 59 60 40 ENSG00000106615 chr7 151466012 151520120 - RHEB protein_coding This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]. 6009 GO:0070062, GO:0016020, GO:0014069, GO:0014069, GO:0005886, GO:0005829, GO:0005789, GO:0005765, GO:0005681, GO:0000139, extracellular exosome, membrane, postsynaptic density, postsynaptic density, plasma membrane, cytosol, endoplasmic reticulum membrane, lysosomal membrane, spliceosomal complex, Golgi membrane, GO:0019901, GO:0019003, GO:0019003, GO:0005525, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0000287, protein kinase binding, GDP binding, GDP binding, GTP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, magnesium ion binding, GO:2000074, GO:0120163, GO:0048714, GO:0032008, GO:0016241, GO:0007264, GO:0007165, GO:0007050, regulation of type B pancreatic cell development, negative regulation of cold-induced thermogenesis, positive regulation of oligodendrocyte differentiation, positive regulation of TOR signaling, regulation of macroautophagy, small GTPase mediated signal transduction, signal transduction, cell cycle arrest, 595 496 575 969 715 799 789 435 490 ENSG00000106617 chr7 151556111 151877125 - PRKAG2 protein_coding AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]. 51422 GO:0031588, GO:0031588, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005615, nucleotide-activated protein kinase complex, nucleotide-activated protein kinase complex, cytosol, cytoplasm, nucleoplasm, nucleus, extracellular space, GO:0043531, GO:0030295, GO:0019901, GO:0019901, GO:0019887, GO:0016208, GO:0008607, GO:0008603, GO:0005524, GO:0005515, GO:0004862, GO:0004679, ADP binding, protein kinase activator activity, protein kinase binding, protein kinase binding, protein kinase regulator activity, AMP binding, phosphorylase kinase regulator activity, cAMP-dependent protein kinase regulator activity, ATP binding, protein binding, cAMP-dependent protein kinase inhibitor activity, AMP-activated protein kinase activity, GO:2000480, GO:1901796, GO:0050790, GO:0046324, GO:0046320, GO:0045860, GO:0042304, GO:0042149, GO:0035556, GO:0032147, GO:0019217, GO:0016241, GO:0016236, GO:0016126, GO:0010800, GO:0007050, GO:0006853, GO:0006754, GO:0006633, GO:0006469, GO:0006468, GO:0006110, GO:0005977, negative regulation of cAMP-dependent protein kinase activity, regulation of signal transduction by p53 class mediator, regulation of catalytic activity, regulation of glucose import, regulation of fatty acid oxidation, positive regulation of protein kinase activity, regulation of fatty acid biosynthetic process, cellular response to glucose starvation, intracellular signal transduction, activation of protein kinase activity, regulation of fatty acid metabolic process, regulation of macroautophagy, macroautophagy, sterol biosynthetic process, positive regulation of peptidyl-threonine phosphorylation, cell cycle arrest, carnitine shuttle, ATP biosynthetic process, fatty acid biosynthetic process, negative regulation of protein kinase activity, protein phosphorylation, regulation of glycolytic process, glycogen metabolic process, 435 449 432 215 378 243 291 349 256 ENSG00000106624 chr7 44104361 44114562 + AEBP1 protein_coding This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]. 165 GO:0070062, GO:0062023, GO:0062023, GO:0005737, GO:0005634, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, cytoplasm, nucleus, extracellular space, extracellular region, GO:0008270, GO:0005518, GO:0005516, GO:0005201, GO:0004181, GO:0001227, GO:0001227, GO:0001227, GO:0000977, GO:0000977, zinc ion binding, collagen binding, calmodulin binding, extracellular matrix structural constituent, metallocarboxypeptidase activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1904026, GO:0016485, GO:0006518, GO:0000122, GO:0000122, regulation of collagen fibril organization, protein processing, peptide metabolic process, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 6 6 10 19 4 12 15 9 13 ENSG00000106628 chr7 44114681 44124358 - POLD2 protein_coding This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]. 5425 GO:0043625, GO:0043625, GO:0042575, GO:0016035, GO:0005654, GO:0005654, GO:0005634, delta DNA polymerase complex, delta DNA polymerase complex, DNA polymerase complex, zeta DNA polymerase complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0071897, GO:0042769, GO:0033683, GO:0032201, GO:0019985, GO:0006298, GO:0006297, GO:0006296, GO:0006283, GO:0006271, GO:0006260, GO:0000723, DNA biosynthetic process, DNA damage response, detection of DNA damage, nucleotide-excision repair, DNA incision, telomere maintenance via semi-conservative replication, translesion synthesis, mismatch repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA strand elongation involved in DNA replication, DNA replication, telomere maintenance, 19 24 19 39 12 73 31 20 19 ENSG00000106631 chr7 44138864 44141332 - MYL7 protein_coding 58498 GO:0043197, GO:0031672, GO:0016459, GO:0005829, dendritic spine, A band, myosin complex, cytosol, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0006936, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000106633 chr7 44144271 44198170 - GCK protein_coding This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]. 2645 GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005654, cytosol, cytosol, cytosol, mitochondrion, nucleoplasm, GO:0019158, GO:0008865, GO:0005536, GO:0005524, GO:0005515, GO:0004340, GO:0004340, GO:0004340, mannokinase activity, fructokinase activity, glucose binding, ATP binding, protein binding, glucokinase activity, glucokinase activity, glucokinase activity, GO:0070509, GO:0061621, GO:0051594, GO:0051156, GO:0051156, GO:0050796, GO:0050796, GO:0046835, GO:0045725, GO:0045721, GO:0044320, GO:0043266, GO:0042593, GO:0032869, GO:0032024, GO:0006739, GO:0006110, GO:0006110, GO:0006096, GO:0001678, calcium ion import, canonical glycolysis, detection of glucose, glucose 6-phosphate metabolic process, glucose 6-phosphate metabolic process, regulation of insulin secretion, regulation of insulin secretion, carbohydrate phosphorylation, positive regulation of glycogen biosynthetic process, negative regulation of gluconeogenesis, cellular response to leptin stimulus, regulation of potassium ion transport, glucose homeostasis, cellular response to insulin stimulus, positive regulation of insulin secretion, NADP metabolic process, regulation of glycolytic process, regulation of glycolytic process, glycolytic process, cellular glucose homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000106635 chr7 73536356 73558002 - BCL7B protein_coding This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]. 9275 GO:0005575, cellular_component, GO:0005515, GO:0003779, protein binding, actin binding, GO:0030154, GO:0016055, GO:0008150, GO:0006915, cell differentiation, Wnt signaling pathway, biological_process, apoptotic process, 512 419 479 420 427 480 398 318 333 ENSG00000106636 chr7 44200968 44214294 + YKT6 protein_coding This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008]. 10652 GO:0097441, GO:0097440, GO:0043025, GO:0033116, GO:0031201, GO:0031201, GO:0030659, GO:0030133, GO:0005887, GO:0005829, GO:0005794, GO:0005783, GO:0005768, GO:0005739, GO:0005737, GO:0000139, basal dendrite, apical dendrite, neuronal cell body, endoplasmic reticulum-Golgi intermediate compartment membrane, SNARE complex, SNARE complex, cytoplasmic vesicle membrane, transport vesicle, integral component of plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, endosome, mitochondrion, cytoplasm, Golgi membrane, GO:0045296, GO:0019706, GO:0005484, cadherin binding, protein-cysteine S-palmitoyltransferase activity, SNAP receptor activity, GO:0061025, GO:0042147, GO:0015031, GO:0006904, GO:0006903, GO:0006888, GO:0006888, membrane fusion, retrograde transport, endosome to Golgi, protein transport, vesicle docking involved in exocytosis, vesicle targeting, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 677 696 912 447 677 647 523 519 561 ENSG00000106638 chr7 73567533 73578791 - TBL2 protein_coding This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]. 26608 GO:0030176, GO:0005783, integral component of endoplasmic reticulum membrane, endoplasmic reticulum, GO:0051219, GO:0031369, GO:0019901, GO:0003723, phosphoprotein binding, translation initiation factor binding, protein kinase binding, RNA binding, GO:0071456, GO:0042149, GO:0030968, cellular response to hypoxia, cellular response to glucose starvation, endoplasmic reticulum unfolded protein response, 31 32 49 44 28 33 24 20 33 ENSG00000106648 chr7 151956379 152019934 + GALNTL5 protein_coding 168391 GO:0031902, GO:0016021, GO:0005794, late endosome membrane, integral component of membrane, Golgi apparatus, GO:0046872, GO:0016757, metal ion binding, transferase activity, transferring glycosyl groups, GO:0007286, GO:0007286, GO:0006486, spermatid development, spermatid development, protein glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000106665 chr7 74289475 74405943 + CLIP2 protein_coding The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]. 7461 GO:0035371, GO:0035371, GO:0005881, GO:0005875, GO:0005737, GO:0005634, microtubule plus-end, microtubule plus-end, cytoplasmic microtubule, microtubule associated complex, cytoplasm, nucleus, GO:0051010, GO:0008017, microtubule plus-end binding, microtubule binding, GO:0031122, cytoplasmic microtubule organization, 28 35 43 13 38 43 9 23 24 ENSG00000106682 chr7 74174245 74197101 + EIF4H protein_coding This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]. 7458 GO:0048471, GO:0016281, GO:0016020, GO:0005829, perinuclear region of cytoplasm, eukaryotic translation initiation factor 4F complex, membrane, cytosol, GO:0045296, GO:0043024, GO:0034057, GO:0033592, GO:0008135, GO:0005515, GO:0003743, GO:0003723, cadherin binding, ribosomal small subunit binding, RNA strand-exchange activity, RNA strand annealing activity, translation factor activity, RNA binding, protein binding, translation initiation factor activity, RNA binding, GO:0097010, GO:0048589, GO:0019953, GO:0016032, GO:0006446, GO:0006413, GO:0001731, eukaryotic translation initiation factor 4F complex assembly, developmental growth, sexual reproduction, viral process, regulation of translational initiation, translational initiation, formation of translation preinitiation complex, 2153 1785 2759 1087 1161 1369 1015 1156 1054 ENSG00000106683 chr7 74082933 74122525 + LIMK1 protein_coding There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]. 3984 GO:0043005, GO:0043005, GO:0030027, GO:0016607, GO:0016020, GO:0005925, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, neuron projection, neuron projection, lamellipodium, nuclear speck, membrane, focal adhesion, cytoskeleton, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0031072, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, heat shock protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0051496, GO:0051444, GO:0045773, GO:0038096, GO:0032233, GO:0030036, GO:0007399, GO:0007266, GO:0007165, GO:0006468, GO:0006468, positive regulation of stress fiber assembly, negative regulation of ubiquitin-protein transferase activity, positive regulation of axon extension, Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of actin filament bundle assembly, actin cytoskeleton organization, nervous system development, Rho protein signal transduction, signal transduction, protein phosphorylation, protein phosphorylation, 194 95 211 88 65 111 95 65 89 ENSG00000106686 chr9 4553386 4666674 - SPATA6L protein_coding 55064 GO:0097224, sperm connecting piece, GO:0032027, myosin light chain binding, GO:0007283, spermatogenesis, 4 5 9 13 3 8 6 6 10 ENSG00000106688 chr9 4490444 4587469 + SLC1A1 protein_coding This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]. 6505 GO:1990635, GO:0150002, GO:0099544, GO:0098793, GO:0097440, GO:0097386, GO:0071944, GO:0070062, GO:0055038, GO:0043679, GO:0043204, GO:0043198, GO:0043197, GO:0043083, GO:0043025, GO:0032279, GO:0031902, GO:0031901, GO:0030425, GO:0030424, GO:0016324, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005886, proximal dendrite, distal dendrite, perisynaptic space, presynapse, apical dendrite, glial cell projection, cell periphery, extracellular exosome, recycling endosome membrane, axon terminus, perikaryon, dendritic shaft, dendritic spine, synaptic cleft, neuronal cell body, asymmetric synapse, late endosome membrane, early endosome membrane, dendrite, axon, apical plasma membrane, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0140010, GO:0046872, GO:0042802, GO:0033229, GO:0016595, GO:0015501, GO:0015183, GO:0015108, GO:0005515, GO:0005314, GO:0005313, D-aspartate transmembrane transporter activity, metal ion binding, identical protein binding, cysteine transmembrane transporter activity, glutamate binding, glutamate:sodium symporter activity, L-aspartate transmembrane transporter activity, chloride transmembrane transporter activity, protein binding, high-affinity glutamate transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:1903712, GO:1902476, GO:0150104, GO:0150104, GO:0140009, GO:0098712, GO:0098712, GO:0070779, GO:0070779, GO:0070778, GO:0070778, GO:0070777, GO:0070633, GO:0051938, GO:0048514, GO:0042883, GO:0036475, GO:0035633, GO:0015813, GO:0014047, GO:0010460, GO:0007268, GO:0006811, cysteine transmembrane transport, chloride transmembrane transport, transport across blood-brain barrier, transport across blood-brain barrier, L-aspartate import across plasma membrane, L-glutamate import across plasma membrane, L-glutamate import across plasma membrane, D-aspartate import across plasma membrane, D-aspartate import across plasma membrane, L-aspartate transmembrane transport, L-aspartate transmembrane transport, D-aspartate transport, transepithelial transport, L-glutamate import, blood vessel morphogenesis, cysteine transport, neuron death in response to oxidative stress, maintenance of blood-brain barrier, L-glutamate transmembrane transport, glutamate secretion, positive regulation of heart rate, chemical synaptic transmission, ion transport, 0 0 0 0 0 5 0 0 0 ENSG00000106689 chr9 124001670 124033301 + LHX2 protein_coding This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]. 9355 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045893, GO:0030182, GO:0006357, positive regulation of transcription, DNA-templated, neuron differentiation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000106692 chr9 105558130 105641118 + FKTN protein_coding The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]. 2218 GO:0030173, GO:0005801, GO:0005794, GO:0005783, GO:0005634, GO:0005615, integral component of Golgi membrane, cis-Golgi network, Golgi apparatus, endoplasmic reticulum, nucleus, extracellular space, GO:0016740, GO:0005515, transferase activity, protein binding, GO:0060049, GO:0046329, GO:0035269, GO:0008285, GO:0007517, GO:0007399, GO:0006493, regulation of protein glycosylation, negative regulation of JNK cascade, protein O-linked mannosylation, negative regulation of cell population proliferation, muscle organ development, nervous system development, protein O-linked glycosylation, 7 9 27 35 20 46 30 18 30 ENSG00000106701 chr9 105447796 105552433 + FSD1L protein_coding 83856 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 2 3 10 13 1 14 7 1 1 ENSG00000106714 chr9 39072767 39288315 - CNTNAP3 protein_coding The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]. 79937 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0008037, GO:0007155, cell recognition, cell adhesion, 788 1182 747 604 1384 796 802 1047 579 ENSG00000106723 chr9 88388419 88478694 + SPIN1 protein_coding 10927 GO:0031965, GO:0005829, GO:0005829, GO:0005819, GO:0005730, GO:0005654, GO:0005654, GO:0005634, nuclear membrane, cytosol, cytosol, spindle, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0035064, GO:0035064, GO:0005515, methylated histone binding, methylated histone binding, protein binding, GO:0051321, GO:0045893, GO:0030177, GO:0016055, GO:0009303, GO:0007276, GO:0007275, GO:0006355, GO:0006325, meiotic cell cycle, positive regulation of transcription, DNA-templated, positive regulation of Wnt signaling pathway, Wnt signaling pathway, rRNA transcription, gamete generation, multicellular organism development, regulation of transcription, DNA-templated, chromatin organization, 54 46 93 77 43 108 61 46 53 ENSG00000106733 chr9 75060573 75088217 - NMRK1 protein_coding Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008]. 54981 GO:0005829, cytosol, GO:0061769, GO:0050262, GO:0046872, GO:0016301, GO:0005524, GO:0005515, ribosylnicotinate kinase activity, ribosylnicotinamide kinase activity, metal ion binding, kinase activity, ATP binding, protein binding, GO:0019674, GO:0016310, GO:0009435, NAD metabolic process, phosphorylation, NAD biosynthetic process, 95 87 132 168 108 161 147 82 134 ENSG00000106771 chr9 109015152 109119945 - TMEM245 protein_coding 23731 GO:0016021, integral component of membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 76 63 132 170 45 187 165 34 126 ENSG00000106772 chr9 76611376 76906087 - PRUNE2 protein_coding The protein encoded by this gene belongs to the B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 158471 GO:0005737, cytoplasm, GO:0046872, GO:0004309, metal ion binding, exopolyphosphatase activity, GO:0006915, GO:0006798, apoptotic process, polyphosphate catabolic process, 0 7 14 0 6 5 0 2 7 ENSG00000106780 chr9 120600813 120714470 - MEGF9 protein_coding 1955 GO:0016021, GO:0005604, GO:0005575, integral component of membrane, basement membrane, cellular_component, GO:0034446, GO:0016477, GO:0009888, GO:0009887, GO:0008150, substrate adhesion-dependent cell spreading, cell migration, tissue development, animal organ morphogenesis, biological_process, 6322 7288 7280 2191 5095 4008 3023 4515 3568 ENSG00000106785 chr9 98069275 98119212 - TRIM14 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 9830 GO:0045335, GO:0005829, GO:0005741, GO:0005737, GO:0005654, phagocytic vesicle, cytosol, mitochondrial outer membrane, cytoplasm, nucleoplasm, GO:0061630, GO:0042803, GO:0019901, GO:0008270, GO:0005515, GO:0003674, ubiquitin protein ligase activity, protein homodimerization activity, protein kinase binding, zinc ion binding, protein binding, molecular_function, GO:0051092, GO:0051092, GO:0051091, GO:0046596, GO:0045087, GO:0045087, GO:0043123, GO:0032897, GO:0032880, GO:0016567, GO:0010508, GO:0010468, GO:0000209, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, regulation of viral entry into host cell, innate immune response, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of viral transcription, regulation of protein localization, protein ubiquitination, positive regulation of autophagy, regulation of gene expression, protein polyubiquitination, 150 125 195 238 179 243 240 140 196 ENSG00000106789 chr9 98120975 98192640 - CORO2A protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]. 7464 GO:0017053, transcription repressor complex, GO:0051015, GO:0005515, actin filament binding, protein binding, GO:0035556, intracellular signal transduction, 57 54 70 78 62 39 67 38 50 ENSG00000106799 chr9 99104038 99154192 + TGFBR1 protein_coding The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 7046 GO:0048179, GO:0045121, GO:0043235, GO:0043235, GO:0009986, GO:0005923, GO:0005886, GO:0005886, GO:0005886, GO:0005768, GO:0005634, activin receptor complex, membrane raft, receptor complex, receptor complex, cell surface, bicellular tight junction, plasma membrane, plasma membrane, plasma membrane, endosome, nucleus, GO:0070411, GO:0050431, GO:0050431, GO:0050431, GO:0050431, GO:0048185, GO:0046872, GO:0046332, GO:0046332, GO:0046332, GO:0019838, GO:0016361, GO:0005524, GO:0005515, GO:0005114, GO:0005114, GO:0005025, GO:0005025, GO:0005024, GO:0005024, GO:0005024, GO:0005024, GO:0004674, GO:0004674, GO:0004672, I-SMAD binding, transforming growth factor beta binding, transforming growth factor beta binding, transforming growth factor beta binding, transforming growth factor beta binding, activin binding, metal ion binding, SMAD binding, SMAD binding, SMAD binding, growth factor binding, activin receptor activity, type I, ATP binding, protein binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, transforming growth factor beta receptor activity, type I, transforming growth factor beta receptor activity, type I, transforming growth factor beta-activated receptor activity, transforming growth factor beta-activated receptor activity, transforming growth factor beta-activated receptor activity, transforming growth factor beta-activated receptor activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2001237, GO:2001235, GO:1905223, GO:1905075, GO:1905007, GO:0071560, GO:0071363, GO:0070723, GO:0060982, GO:0060978, GO:0060412, GO:0060391, GO:0060389, GO:0060317, GO:0060043, GO:0060037, GO:0060021, GO:0060017, GO:0051897, GO:0051496, GO:0051491, GO:0051272, GO:0048870, GO:0048844, GO:0048762, GO:0048705, GO:0048701, GO:0048663, GO:0048538, GO:0045893, GO:0043542, GO:0043393, GO:0043062, GO:0042118, GO:0042060, GO:0035556, GO:0032924, GO:0032924, GO:0032331, GO:0031396, GO:0030512, GO:0030335, GO:0030307, GO:0030199, GO:0018107, GO:0018105, GO:0016579, GO:0010862, GO:0010718, GO:0010717, GO:0010628, GO:0009952, GO:0009791, GO:0008584, GO:0008354, GO:0008284, GO:0007507, GO:0007507, GO:0007399, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0007165, GO:0007050, GO:0006915, GO:0006468, GO:0006468, GO:0006355, GO:0006355, GO:0003342, GO:0003223, GO:0003222, GO:0002088, GO:0001938, GO:0001937, GO:0001837, GO:0001824, GO:0001822, GO:0001701, GO:0001501, GO:0000186, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of apoptotic signaling pathway, epicardium morphogenesis, positive regulation of tight junction disassembly, positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, cellular response to transforming growth factor beta stimulus, cellular response to growth factor stimulus, response to cholesterol, coronary artery morphogenesis, angiogenesis involved in coronary vascular morphogenesis, ventricular septum morphogenesis, positive regulation of SMAD protein signal transduction, pathway-restricted SMAD protein phosphorylation, cardiac epithelial to mesenchymal transition, regulation of cardiac muscle cell proliferation, pharyngeal system development, roof of mouth development, parathyroid gland development, positive regulation of protein kinase B signaling, positive regulation of stress fiber assembly, positive regulation of filopodium assembly, positive regulation of cellular component movement, cell motility, artery morphogenesis, mesenchymal cell differentiation, skeletal system morphogenesis, embryonic cranial skeleton morphogenesis, neuron fate commitment, thymus development, positive regulation of transcription, DNA-templated, endothelial cell migration, regulation of protein binding, extracellular structure organization, endothelial cell activation, wound healing, intracellular signal transduction, activin receptor signaling pathway, activin receptor signaling pathway, negative regulation of chondrocyte differentiation, regulation of protein ubiquitination, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, positive regulation of cell growth, collagen fibril organization, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, protein deubiquitination, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial to mesenchymal transition, regulation of epithelial to mesenchymal transition, positive regulation of gene expression, anterior/posterior pattern specification, post-embryonic development, male gonad development, germ cell migration, positive regulation of cell population proliferation, heart development, heart development, nervous system development, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, signal transduction, cell cycle arrest, apoptotic process, protein phosphorylation, protein phosphorylation, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, proepicardium development, ventricular compact myocardium morphogenesis, ventricular trabecula myocardium morphogenesis, lens development in camera-type eye, positive regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, epithelial to mesenchymal transition, blastocyst development, kidney development, in utero embryonic development, skeletal system development, activation of MAPKK activity, 2064 1653 2656 375 513 587 463 386 360 ENSG00000106803 chr9 99222064 99230615 + SEC61B protein_coding The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008]. 10952 GO:0044322, GO:0031205, GO:0031205, GO:0016021, GO:0016020, GO:0005829, GO:0005789, GO:0005789, GO:0005784, GO:0005783, endoplasmic reticulum quality control compartment, endoplasmic reticulum Sec complex, endoplasmic reticulum Sec complex, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, Sec61 translocon complex, endoplasmic reticulum, GO:0048408, GO:0005515, GO:0005085, GO:0003723, epidermal growth factor binding, protein binding, guanyl-nucleotide exchange factor activity, RNA binding, GO:0031204, GO:0030970, GO:0030433, GO:0006616, posttranslational protein targeting to membrane, translocation, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, SRP-dependent cotranslational protein targeting to membrane, translocation, 183 150 173 97 161 120 113 166 125 ENSG00000106804 chr9 120952335 121050276 - C5 protein_coding This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. 727 GO:0070062, GO:0005615, GO:0005579, GO:0005576, extracellular exosome, extracellular space, membrane attack complex, extracellular region, GO:0008009, GO:0005515, GO:0005102, GO:0004866, chemokine activity, protein binding, signaling receptor binding, endopeptidase inhibitor activity, GO:0060326, GO:0045766, GO:0032722, GO:0030449, GO:0019835, GO:0010951, GO:0010760, GO:0010575, GO:0007186, GO:0007166, GO:0006958, GO:0006957, GO:0006954, GO:0006935, GO:0001701, GO:0000187, cell chemotaxis, positive regulation of angiogenesis, positive regulation of chemokine production, regulation of complement activation, cytolysis, negative regulation of endopeptidase activity, negative regulation of macrophage chemotaxis, positive regulation of vascular endothelial growth factor production, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, complement activation, classical pathway, complement activation, alternative pathway, inflammatory response, chemotaxis, in utero embryonic development, activation of MAPK activity, 19 16 17 18 6 28 22 14 10 ENSG00000106809 chr9 92383967 92404696 - OGN protein_coding This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded protein induces ectopic bone formation in conjunction with transforming growth factor beta and may regulate osteoblast differentiation. High expression of the encoded protein may be associated with elevated heart left ventricular mass. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 4969 GO:1903561, GO:0070062, GO:0062023, GO:0062023, GO:0043202, GO:0005796, GO:0005615, GO:0005576, GO:0005576, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, Golgi lumen, extracellular space, extracellular region, extracellular region, GO:0030021, GO:0008083, GO:0005515, extracellular matrix structural constituent conferring compression resistance, growth factor activity, protein binding, GO:0048662, GO:0042340, GO:0018146, GO:0007165, negative regulation of smooth muscle cell proliferation, keratan sulfate catabolic process, keratan sulfate biosynthetic process, signal transduction, 0 0 0 0 0 0 2 1 0 ENSG00000106819 chr9 92456205 92482506 - ASPN protein_coding This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]. 54829 GO:0062023, GO:0062023, GO:0031012, GO:0005615, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular space, GO:0030021, GO:0005518, GO:0005509, extracellular matrix structural constituent conferring compression resistance, collagen binding, calcium ion binding, GO:0070171, GO:0030512, GO:0030282, negative regulation of tooth mineralization, negative regulation of transforming growth factor beta receptor signaling pathway, bone mineralization, 0 0 0 0 0 0 0 0 0 ENSG00000106823 chr9 92493554 92536655 - ECM2 protein_coding ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]. 1842 GO:0031012, GO:0005614, extracellular matrix, interstitial matrix, GO:0070052, GO:0008201, GO:0005178, collagen V binding, heparin binding, integrin binding, GO:0030198, GO:0010811, GO:0007160, extracellular matrix organization, positive regulation of cell-substrate adhesion, cell-matrix adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000106829 chr9 79571773 79726882 + TLE4 protein_coding 7091 GO:1990907, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, beta-catenin-TCF complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0070491, GO:0005515, GO:0003714, GO:0003682, GO:0000981, repressing transcription factor binding, protein binding, transcription corepressor activity, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:1990830, GO:1904837, GO:0090090, GO:0016055, GO:0008150, GO:0000122, cellular response to leukemia inhibitory factor, beta-catenin-TCF complex assembly, negative regulation of canonical Wnt signaling pathway, Wnt signaling pathway, biological_process, negative regulation of transcription by RNA polymerase II, 1506 1658 2001 877 1461 1167 1023 1027 1077 ENSG00000106852 chr9 122202577 122229626 - LHX6 protein_coding This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeodomain. The protein functions as a transcription factor involved in embryogenesis and head development and is highly expressed in neural crest derived mesenchyme cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]. 26468 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048469, GO:0030182, GO:0021884, GO:0021853, GO:0021800, GO:0021799, GO:0006357, cell maturation, neuron differentiation, forebrain neuron development, cerebral cortex GABAergic interneuron migration, cerebral cortex tangential migration, cerebral cortex radially oriented cell migration, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000106853 chr9 111549722 111599893 - PTGR1 protein_coding This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. 22949 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0097257, GO:0047522, GO:0036185, GO:0036132, GO:0035798, GO:0005515, leukotriene B4 12-hydroxy dehydrogenase activity, 15-oxoprostaglandin 13-oxidase activity, 13-lipoxin reductase activity, 13-prostaglandin reductase activity, 2-alkenal reductase (NADP+) activity, protein binding, GO:2001302, GO:0097327, GO:0055114, GO:0036102, GO:0006693, GO:0006693, GO:0006691, lipoxin A4 metabolic process, response to antineoplastic agent, oxidation-reduction process, leukotriene B4 metabolic process, prostaglandin metabolic process, prostaglandin metabolic process, leukotriene metabolic process, 1 0 1 6 2 0 1 0 0 ENSG00000106868 chr9 112040785 112175408 - SUSD1 protein_coding 64420 GO:0016021, integral component of membrane, GO:0005509, calcium ion binding, 57 80 87 52 63 104 51 50 49 ENSG00000106927 chr9 114060127 114078472 - AMBP protein_coding This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]. 259 GO:0072562, GO:0070062, GO:0062023, GO:0043231, GO:0009986, GO:0005886, GO:0005886, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, cell surface, plasma membrane, plasma membrane, extracellular space, extracellular region, extracellular region, GO:0046904, GO:0042803, GO:0020037, GO:0019862, GO:0019855, GO:0005515, GO:0004867, GO:0004867, calcium oxalate binding, protein homodimerization activity, heme binding, IgA binding, calcium channel inhibitor activity, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0050777, GO:0046329, GO:0042167, GO:0030163, GO:0018298, GO:0016032, GO:0010951, GO:0007565, GO:0007155, GO:0006898, negative regulation of immune response, negative regulation of JNK cascade, heme catabolic process, protein catabolic process, protein-chromophore linkage, viral process, negative regulation of endopeptidase activity, female pregnancy, cell adhesion, receptor-mediated endocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000106948 chr9 114334156 114394405 - AKNA protein_coding 80709 GO:0043231, GO:0016020, GO:0005874, GO:0005829, GO:0005814, GO:0005813, GO:0005654, GO:0001650, intracellular membrane-bounded organelle, membrane, microtubule, cytosol, centriole, centrosome, nucleoplasm, fibrillar center, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0060234, GO:0060232, GO:0050727, GO:0045944, GO:0021849, GO:0001837, neuroblast delamination, delamination, regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, neuroblast division in subventricular zone, epithelial to mesenchymal transition, 7675 8781 10176 4609 6848 6631 5324 5311 6010 ENSG00000106952 chr9 114893343 114930595 - TNFSF8 protein_coding The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 944 GO:0005887, GO:0005886, GO:0005615, integral component of plasma membrane, plasma membrane, extracellular space, GO:0005515, GO:0005164, GO:0005125, GO:0005102, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:0050830, GO:0045944, GO:0043374, GO:0042129, GO:0033209, GO:0007267, GO:0006955, defense response to Gram-positive bacterium, positive regulation of transcription by RNA polymerase II, CD8-positive, alpha-beta T cell differentiation, regulation of T cell proliferation, tumor necrosis factor-mediated signaling pathway, cell-cell signaling, immune response, 243 223 574 125 130 158 105 109 121 ENSG00000106976 chr9 128191655 128255248 + DNM1 protein_coding This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 1759 GO:0098978, GO:0098844, GO:0098835, GO:0098684, GO:0070062, GO:0044327, GO:0043196, GO:0031966, GO:0031410, GO:0030424, GO:0030117, GO:0016020, GO:0015630, GO:0014069, GO:0008021, GO:0005886, GO:0005886, GO:0005874, GO:0005794, GO:0005737, GO:0005654, GO:0001917, glutamatergic synapse, postsynaptic endocytic zone membrane, presynaptic endocytic zone membrane, photoreceptor ribbon synapse, extracellular exosome, dendritic spine head, varicosity, mitochondrial membrane, cytoplasmic vesicle, axon, membrane coat, membrane, microtubule cytoskeleton, postsynaptic density, synaptic vesicle, plasma membrane, plasma membrane, microtubule, Golgi apparatus, cytoplasm, nucleoplasm, photoreceptor inner segment, GO:0050998, GO:0044877, GO:0042802, GO:0031749, GO:0019901, GO:0017124, GO:0008022, GO:0008017, GO:0005525, GO:0005515, GO:0003924, GO:0003723, nitric-oxide synthase binding, protein-containing complex binding, identical protein binding, D2 dopamine receptor binding, protein kinase binding, SH3 domain binding, protein C-terminus binding, microtubule binding, GTP binding, protein binding, GTPase activity, RNA binding, GO:1904645, GO:1901998, GO:1900244, GO:0098884, GO:0061025, GO:0050804, GO:0050803, GO:0048285, GO:0048013, GO:0031623, GO:0016185, GO:0007032, GO:0006898, GO:0006897, GO:0006897, GO:0003374, GO:0002031, GO:0000266, response to amyloid-beta, toxin transport, positive regulation of synaptic vesicle endocytosis, postsynaptic neurotransmitter receptor internalization, membrane fusion, modulation of chemical synaptic transmission, regulation of synapse structure or activity, organelle fission, ephrin receptor signaling pathway, receptor internalization, synaptic vesicle budding from presynaptic endocytic zone membrane, endosome organization, receptor-mediated endocytosis, endocytosis, endocytosis, dynamin family protein polymerization involved in mitochondrial fission, G protein-coupled receptor internalization, mitochondrial fission, 1 1 0 0 5 10 0 2 3 ENSG00000106991 chr9 127815012 127854756 - ENG protein_coding This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]. 2022 GO:0072563, GO:0043235, GO:0016604, GO:0016021, GO:0009986, GO:0009897, GO:0005925, GO:0005886, GO:0005615, GO:0005615, endothelial microparticle, receptor complex, nuclear body, integral component of membrane, cell surface, external side of plasma membrane, focal adhesion, plasma membrane, extracellular space, extracellular space, GO:0050431, GO:0050431, GO:0050431, GO:0048185, GO:0042803, GO:0042802, GO:0036122, GO:0034713, GO:0034713, GO:0015026, GO:0005539, GO:0005539, GO:0005539, GO:0005534, GO:0005515, GO:0005114, GO:0005114, GO:0005114, GO:0005024, GO:0004888, transforming growth factor beta binding, transforming growth factor beta binding, transforming growth factor beta binding, activin binding, protein homodimerization activity, identical protein binding, BMP binding, type I transforming growth factor beta receptor binding, type I transforming growth factor beta receptor binding, coreceptor activity, glycosaminoglycan binding, glycosaminoglycan binding, glycosaminoglycan binding, galactose binding, protein binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, transforming growth factor beta-activated receptor activity, transmembrane signaling receptor activity, GO:2000136, GO:1905310, GO:1905222, GO:1905065, GO:1905007, GO:0097084, GO:0090500, GO:0071260, GO:0070278, GO:0060348, GO:0055009, GO:0051897, GO:0048845, GO:0048844, GO:0048745, GO:0045944, GO:0045766, GO:0042493, GO:0035912, GO:0032967, GO:0031960, GO:0031953, GO:0030513, GO:0030509, GO:0030336, GO:0022009, GO:0017015, GO:0017015, GO:0016477, GO:0010862, GO:0010665, GO:0010629, GO:0007179, GO:0007179, GO:0007155, GO:0006355, GO:0003273, GO:0003222, GO:0003209, GO:0003208, GO:0003203, GO:0003198, GO:0003148, GO:0002040, GO:0001947, GO:0001934, GO:0001837, GO:0001570, GO:0001570, GO:0001569, GO:0001525, regulation of cell proliferation involved in heart morphogenesis, regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis, atrioventricular canal morphogenesis, positive regulation of vascular associated smooth muscle cell differentiation, positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, vascular associated smooth muscle cell development, endocardial cushion to mesenchymal transition, cellular response to mechanical stimulus, extracellular matrix constituent secretion, bone development, atrial cardiac muscle tissue morphogenesis, positive regulation of protein kinase B signaling, venous blood vessel morphogenesis, artery morphogenesis, smooth muscle tissue development, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, response to drug, dorsal aorta morphogenesis, positive regulation of collagen biosynthetic process, response to corticosteroid, negative regulation of protein autophosphorylation, positive regulation of BMP signaling pathway, BMP signaling pathway, negative regulation of cell migration, central nervous system vasculogenesis, regulation of transforming growth factor beta receptor signaling pathway, regulation of transforming growth factor beta receptor signaling pathway, cell migration, positive regulation of pathway-restricted SMAD protein phosphorylation, regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, cell adhesion, regulation of transcription, DNA-templated, cell migration involved in endocardial cushion formation, ventricular trabecula myocardium morphogenesis, cardiac atrium morphogenesis, cardiac ventricle morphogenesis, endocardial cushion morphogenesis, epithelial to mesenchymal transition involved in endocardial cushion formation, outflow tract septum morphogenesis, sprouting angiogenesis, heart looping, positive regulation of protein phosphorylation, epithelial to mesenchymal transition, vasculogenesis, vasculogenesis, branching involved in blood vessel morphogenesis, angiogenesis, 9 16 30 28 11 22 16 13 17 ENSG00000106992 chr9 127866480 127877743 - AK1 protein_coding This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 203 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytosol, cytosol, cytoplasm, GO:0005524, GO:0004550, GO:0004017, ATP binding, nucleoside diphosphate kinase activity, adenylate kinase activity, GO:0046940, GO:0046034, GO:0046033, GO:0015949, GO:0009142, GO:0009142, GO:0006172, GO:0006165, GO:0006165, GO:0006163, nucleoside monophosphate phosphorylation, ATP metabolic process, AMP metabolic process, nucleobase-containing small molecule interconversion, nucleoside triphosphate biosynthetic process, nucleoside triphosphate biosynthetic process, ADP biosynthetic process, nucleoside diphosphate phosphorylation, nucleoside diphosphate phosphorylation, purine nucleotide metabolic process, 0 3 1 8 0 1 4 2 10 ENSG00000106993 chr9 4679559 4708398 + CDC37L1 protein_coding CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]. 55664 GO:0031089, GO:0005829, GO:0005737, GO:0005576, platelet dense granule lumen, cytosol, cytoplasm, extracellular region, GO:0051087, GO:0051082, GO:0031072, GO:0005515, chaperone binding, unfolded protein binding, heat shock protein binding, protein binding, GO:0050821, GO:0006457, GO:0002576, protein stabilization, protein folding, platelet degranulation, 133 101 165 116 105 102 95 66 69 ENSG00000107014 chr9 5299868 5304969 - RLN2 protein_coding This gene encodes a member of the relaxin subfamily and insulin superfamily of peptide hormones. In humans there are three non-allelic relaxin genes. This gene encodes multiple protein isoforms, at least one of which undergoes proteolytic processing. This processing generates relaxin A and B chains that are linked by disulfide bonds to form the mature peptide hormone. This hormone plays a role in the male and female reproductive systems and was initially noted for its role in pregnancy. This protein also plays broader roles in the cardiovascular system, including in the regulation of blood pressure and control of heart rate, and data from animal models shows that this protein may have anti-fibrotic and cardioprotective effects. [provided by RefSeq, Jul 2016]. 6019 GO:0005576, extracellular region, GO:0005179, hormone activity, GO:0050790, GO:0045766, GO:0010628, GO:0007565, GO:0007186, regulation of catalytic activity, positive regulation of angiogenesis, positive regulation of gene expression, female pregnancy, G protein-coupled receptor signaling pathway, 0 0 0 8 0 0 2 0 1 ENSG00000107018 chr9 5334969 5339873 - RLN1 protein_coding Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]. 6013 GO:0005576, extracellular region, GO:0005515, GO:0005179, protein binding, hormone activity, GO:0007565, GO:0007165, female pregnancy, signal transduction, 1 0 0 0 0 0 0 0 3 ENSG00000107020 chr9 5357973 5437878 - PLGRKT protein_coding 55848 GO:0005887, integral component of plasma membrane, GO:0005515, protein binding, GO:0010756, GO:0006954, GO:0006935, positive regulation of plasminogen activation, inflammatory response, chemotaxis, 59 43 42 41 52 47 50 46 24 ENSG00000107021 chr9 128787204 128810432 + TBC1D13 protein_coding 54662 GO:0016020, GO:0005829, membrane, cytosol, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0006886, regulation of cilium assembly, activation of GTPase activity, intracellular protein transport, 78 111 112 106 132 112 89 124 51 ENSG00000107036 chr9 5629025 5776557 + RIC1 protein_coding 57589 GO:0034066, GO:0034066, GO:0032991, GO:0032588, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0000139, RIC1-RGP1 guanyl-nucleotide exchange factor complex, RIC1-RGP1 guanyl-nucleotide exchange factor complex, protein-containing complex, trans-Golgi network membrane, membrane, cytosol, cytosol, cytosol, Golgi membrane, GO:0031267, GO:0005515, GO:0005085, GO:0005085, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1904888, GO:1903363, GO:0043547, GO:0042147, GO:0042147, GO:0006886, GO:0003330, cranial skeletal system development, negative regulation of cellular protein catabolic process, positive regulation of GTPase activity, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, intracellular protein transport, regulation of extracellular matrix constituent secretion, 482 557 617 281 457 371 330 360 275 ENSG00000107077 chr9 6720863 7175648 + KDM4C protein_coding This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 23081 GO:0035097, GO:0005721, GO:0005654, GO:0000785, histone methyltransferase complex, pericentric heterochromatin, nucleoplasm, chromatin, GO:0051864, GO:0051864, GO:0050681, GO:0032454, GO:0032454, GO:0032454, GO:0032452, GO:0032452, GO:0019899, GO:0008270, GO:0003682, histone demethylase activity (H3-K36 specific), histone demethylase activity (H3-K36 specific), androgen receptor binding, histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity, histone demethylase activity, enzyme binding, zinc ion binding, chromatin binding, GO:2000736, GO:1900113, GO:0070544, GO:0055114, GO:0045666, GO:0033169, GO:0033169, GO:0019827, GO:0010628, GO:0008284, GO:0006357, GO:0006338, GO:0001825, regulation of stem cell differentiation, negative regulation of histone H3-K9 trimethylation, histone H3-K36 demethylation, oxidation-reduction process, positive regulation of neuron differentiation, histone H3-K9 demethylation, histone H3-K9 demethylation, stem cell population maintenance, positive regulation of gene expression, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, chromatin remodeling, blastocyst formation, 125 124 189 176 132 306 180 78 149 ENSG00000107099 chr9 214854 465259 + DOCK8 protein_coding This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]. 81704 GO:0031258, GO:0031256, GO:0016020, GO:0005829, GO:0005737, lamellipodium membrane, leading edge membrane, membrane, cytosol, cytoplasm, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:2000406, GO:1990869, GO:1903905, GO:0070233, GO:0061485, GO:0043547, GO:0036336, GO:0007596, GO:0007264, GO:0001771, positive regulation of T cell migration, cellular response to chemokine, positive regulation of establishment of T cell polarity, negative regulation of T cell apoptotic process, memory T cell proliferation, positive regulation of GTPase activity, dendritic cell migration, blood coagulation, small GTPase mediated signal transduction, immunological synapse formation, 7926 7974 11875 4308 5723 6678 5338 4540 5302 ENSG00000107104 chr9 470291 746106 + KANK1 protein_coding The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]. 23189 GO:0032587, GO:0005886, GO:0005856, GO:0005737, GO:0005737, GO:0005634, ruffle membrane, plasma membrane, cytoskeleton, cytoplasm, cytoplasm, nucleus, GO:0008013, GO:0005515, beta-catenin binding, protein binding, GO:2000393, GO:2000114, GO:1900028, GO:1900025, GO:0090521, GO:0090303, GO:0090263, GO:0046627, GO:0035024, GO:0035023, GO:0030837, GO:0030837, GO:0030336, GO:0030177, GO:0030036, GO:0010977, GO:0008283, negative regulation of lamellipodium morphogenesis, regulation of establishment of cell polarity, negative regulation of ruffle assembly, negative regulation of substrate adhesion-dependent cell spreading, glomerular visceral epithelial cell migration, positive regulation of wound healing, positive regulation of canonical Wnt signaling pathway, negative regulation of insulin receptor signaling pathway, negative regulation of Rho protein signal transduction, regulation of Rho protein signal transduction, negative regulation of actin filament polymerization, negative regulation of actin filament polymerization, negative regulation of cell migration, positive regulation of Wnt signaling pathway, actin cytoskeleton organization, negative regulation of neuron projection development, cell population proliferation, 10 9 4 10 8 2 30 12 5 ENSG00000107105 chr9 23690104 23826337 - ELAVL2 protein_coding In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3' UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3' UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing of this gene results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Jul 2020]. 1993 GO:1990904, GO:0005654, ribonucleoprotein complex, nucleoplasm, GO:0005515, GO:0003730, GO:0003723, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0006355, GO:0000398, regulation of transcription, DNA-templated, mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000107130 chr9 130172578 130237304 + NCS1 protein_coding This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 23413 GO:0048471, GO:0044305, GO:0043231, GO:0031045, GO:0030425, GO:0014069, GO:0005886, GO:0005829, GO:0005794, GO:0005737, perinuclear region of cytoplasm, calyx of Held, intracellular membrane-bounded organelle, dense core granule, dendrite, postsynaptic density, plasma membrane, cytosol, Golgi apparatus, cytoplasm, GO:0099626, GO:0019901, GO:0005515, GO:0005509, GO:0005245, GO:0000287, voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels, protein kinase binding, protein binding, calcium ion binding, voltage-gated calcium channel activity, magnesium ion binding, GO:0099509, GO:0070588, GO:0048015, GO:0045921, GO:0010975, regulation of presynaptic cytosolic calcium ion concentration, calcium ion transmembrane transport, phosphatidylinositol-mediated signaling, positive regulation of exocytosis, regulation of neuron projection development, 0 0 2 0 0 0 0 0 0 ENSG00000107140 chr9 35605305 35610041 + TESK1 protein_coding This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 7016 GO:0048471, GO:0031410, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005634, perinuclear region of cytoplasm, cytoplasmic vesicle, cytosol, centrosome, cytoplasm, cytoplasm, nucleus, GO:0046872, GO:0019901, GO:0008022, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, GO:0004672, GO:0004672, metal ion binding, protein kinase binding, protein C-terminus binding, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, GO:1902018, GO:1900182, GO:1900026, GO:0090521, GO:0071901, GO:0051650, GO:0051496, GO:0051496, GO:0051496, GO:0042326, GO:0032956, GO:0032880, GO:0031953, GO:0030036, GO:0018108, GO:0007283, GO:0001934, negative regulation of cilium assembly, positive regulation of protein localization to nucleus, positive regulation of substrate adhesion-dependent cell spreading, glomerular visceral epithelial cell migration, negative regulation of protein serine/threonine kinase activity, establishment of vesicle localization, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, negative regulation of phosphorylation, regulation of actin cytoskeleton organization, regulation of protein localization, negative regulation of protein autophosphorylation, actin cytoskeleton organization, peptidyl-tyrosine phosphorylation, spermatogenesis, positive regulation of protein phosphorylation, 86 67 66 91 80 109 109 56 63 ENSG00000107147 chr9 135702185 135795508 + KCNT1 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 57582 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015271, GO:0005228, outward rectifier potassium channel activity, intracellular sodium activated potassium channel activity, GO:0071805, potassium ion transmembrane transport, 4 0 1 0 1 4 0 0 0 ENSG00000107159 chr9 35673856 35681159 + CA9 protein_coding Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]. 768 GO:0031528, GO:0016323, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005730, microvillus membrane, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, nucleolus, GO:0016836, GO:0008270, GO:0005515, GO:0004089, hydro-lyase activity, zinc ion binding, protein binding, carbonate dehydratase activity, GO:0061418, GO:0046903, GO:0042493, GO:0033574, GO:0015701, GO:0006730, GO:0002009, regulation of transcription from RNA polymerase II promoter in response to hypoxia, secretion, response to drug, response to testosterone, bicarbonate transport, one-carbon metabolic process, morphogenesis of an epithelium, 0 0 0 0 0 0 0 0 0 ENSG00000107164 chr9 130578965 130638352 + FUBP3 protein_coding 8939 GO:0016020, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005634, membrane, cytoplasm, cytoplasm, nucleus, nucleus, nucleus, GO:0005515, GO:0003729, GO:0003723, GO:0003697, protein binding, mRNA binding, RNA binding, single-stranded DNA binding, GO:0045944, GO:0045893, GO:0010628, GO:0010468, GO:0006351, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of gene expression, regulation of gene expression, transcription, DNA-templated, 79 107 93 112 106 158 130 92 113 ENSG00000107165 chr9 12685439 12710290 + TYRP1 protein_coding This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]. 7306 GO:0097708, GO:0042470, GO:0042470, GO:0033162, GO:0033162, GO:0030669, GO:0016021, GO:0010008, GO:0005737, intracellular vesicle, melanosome, melanosome, melanosome membrane, melanosome membrane, clathrin-coated endocytic vesicle membrane, integral component of membrane, endosome membrane, cytoplasm, GO:0046872, GO:0042803, GO:0016491, GO:0005515, GO:0004503, metal ion binding, protein homodimerization activity, oxidoreductase activity, protein binding, monophenol monooxygenase activity, GO:0055114, GO:0048023, GO:0043438, GO:0042438, GO:0042438, GO:0032438, GO:0030318, oxidation-reduction process, positive regulation of melanin biosynthetic process, acetoacetic acid metabolic process, melanin biosynthetic process, melanin biosynthetic process, melanosome organization, melanocyte differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000107175 chr9 35732335 35737004 + CREB3 protein_coding This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]. 10488 GO:0016021, GO:0005829, GO:0005789, GO:0005783, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, GO:0000139, integral component of membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, nucleus, nucleus, nucleus, chromatin, Golgi membrane, GO:1990837, GO:0035497, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, cAMP response element binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1902236, GO:0090026, GO:0045944, GO:0045944, GO:0030968, GO:0016032, GO:0006990, GO:0006935, GO:0006357, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, positive regulation of monocyte chemotaxis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, endoplasmic reticulum unfolded protein response, viral process, positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response, chemotaxis, regulation of transcription by RNA polymerase II, 404 371 509 175 280 301 191 213 240 ENSG00000107185 chr9 35749287 35758575 + RGP1 protein_coding 9827 GO:0034066, GO:0034066, GO:0032991, GO:0032588, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0000139, RIC1-RGP1 guanyl-nucleotide exchange factor complex, RIC1-RGP1 guanyl-nucleotide exchange factor complex, protein-containing complex, trans-Golgi network membrane, membrane, plasma membrane, cytosol, cytosol, Golgi membrane, GO:0031267, GO:0005515, GO:0005085, GO:0005085, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1903363, GO:0043547, GO:0042147, GO:0042147, negative regulation of cellular protein catabolic process, positive regulation of GTPase activity, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, 455 582 599 275 677 477 339 537 414 ENSG00000107186 chr9 13105704 13279590 - MPDZ protein_coding The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. 8777 GO:0043220, GO:0031410, GO:0030425, GO:0016327, GO:0016324, GO:0014069, GO:0005923, GO:0005737, Schmidt-Lanterman incisure, cytoplasmic vesicle, dendrite, apicolateral plasma membrane, apical plasma membrane, postsynaptic density, bicellular tight junction, cytoplasm, GO:0008022, GO:0005515, protein C-terminus binding, protein binding, GO:0016032, GO:0007155, viral process, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000107187 chr9 136196250 136205128 - LHX3 protein_coding This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 8022 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:0046872, GO:0043565, GO:0001228, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000977, metal ion binding, sequence-specific DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048839, GO:0045944, GO:0045893, GO:0043066, GO:0030324, GO:0030182, GO:0021983, GO:0021527, GO:0021526, GO:0021521, GO:0021520, GO:0009887, GO:0008045, GO:0006357, GO:0001890, inner ear development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of apoptotic process, lung development, neuron differentiation, pituitary gland development, spinal cord association neuron differentiation, medial motor column neuron differentiation, ventral spinal cord interneuron specification, spinal cord motor neuron cell fate specification, animal organ morphogenesis, motor neuron axon guidance, regulation of transcription by RNA polymerase II, placenta development, 0 0 0 0 0 0 0 1 0 ENSG00000107201 chr9 32455705 32526324 - DDX58 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of the antiviral innate immune response. Mutations in this gene are associated with Singleton-Merten syndrome 2. [provided by RefSeq, Aug 2020]. 23586 GO:1990904, GO:0032587, GO:0015629, GO:0005923, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, ribonucleoprotein complex, ruffle membrane, actin cytoskeleton, bicellular tight junction, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, GO:0042802, GO:0031625, GO:0008270, GO:0008270, GO:0005524, GO:0005515, GO:0003727, GO:0003727, GO:0003725, GO:0003725, GO:0003725, GO:0003725, GO:0003724, GO:0003690, identical protein binding, ubiquitin protein ligase binding, zinc ion binding, zinc ion binding, ATP binding, protein binding, single-stranded RNA binding, single-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, RNA helicase activity, double-stranded DNA binding, GO:0140374, GO:0071360, GO:0060760, GO:0051607, GO:0051607, GO:0051091, GO:0045944, GO:0045087, GO:0045087, GO:0045087, GO:0043330, GO:0039529, GO:0039529, GO:0039528, GO:0034344, GO:0032760, GO:0032757, GO:0032755, GO:0032755, GO:0032728, GO:0032728, GO:0032728, GO:0032727, GO:0032727, GO:0032725, GO:0032480, GO:0030334, GO:0016579, GO:0016032, GO:0010628, GO:0009615, GO:0009615, GO:0009597, GO:0002735, GO:0002230, antiviral innate immune response, cellular response to exogenous dsRNA, positive regulation of response to cytokine stimulus, defense response to virus, defense response to virus, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, innate immune response, innate immune response, innate immune response, response to exogenous dsRNA, RIG-I signaling pathway, RIG-I signaling pathway, cytoplasmic pattern recognition receptor signaling pathway in response to virus, regulation of type III interferon production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of interferon-alpha production, positive regulation of granulocyte macrophage colony-stimulating factor production, negative regulation of type I interferon production, regulation of cell migration, protein deubiquitination, viral process, positive regulation of gene expression, response to virus, response to virus, detection of virus, positive regulation of myeloid dendritic cell cytokine production, positive regulation of defense response to virus by host, 1027 939 1375 639 871 959 766 725 734 ENSG00000107223 chr9 136862119 136866286 - EDF1 protein_coding This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 8721 GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005622, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, nucleus, intracellular anatomical structure, GO:0005516, GO:0005515, GO:0003723, GO:0003713, GO:0003677, GO:0001094, calmodulin binding, protein binding, RNA binding, transcription coactivator activity, DNA binding, TFIID-class transcription factor complex binding, GO:0045893, GO:0045446, GO:0043388, GO:0019216, GO:0007275, GO:0006355, positive regulation of transcription, DNA-templated, endothelial cell differentiation, positive regulation of DNA binding, regulation of lipid metabolic process, multicellular organism development, regulation of transcription, DNA-templated, 414 427 459 381 398 434 354 439 349 ENSG00000107242 chr9 68705414 69009176 + PIP5K1B protein_coding 8395 GO:0016020, GO:0012505, GO:0005829, GO:0001931, membrane, endomembrane system, cytosol, uropod, GO:0016308, GO:0005524, GO:0005515, 1-phosphatidylinositol-4-phosphate 5-kinase activity, ATP binding, protein binding, GO:0046854, GO:0014066, GO:0006661, phosphatidylinositol phosphorylation, regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol biosynthetic process, 89 131 143 42 79 62 45 52 70 ENSG00000107249 chr9 3824127 4348392 - GLIS3 protein_coding This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]. 169792 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006366, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 16 9 10 15 10 10 3 9 6 ENSG00000107262 chr9 33247820 33264720 - BAG1 protein_coding The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]. 573 GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005634, membrane, cytosol, cytosol, cytoplasm, nucleus, nucleus, nucleus, GO:0051087, GO:0031625, GO:0031072, GO:0005515, GO:0000774, GO:0000774, chaperone binding, ubiquitin protein ligase binding, heat shock protein binding, protein binding, adenyl-nucleotide exchange factor activity, adenyl-nucleotide exchange factor activity, GO:1900034, GO:0051085, GO:0050821, GO:0050790, GO:0043066, GO:0007166, GO:0006915, regulation of cellular response to heat, chaperone cofactor-dependent protein refolding, protein stabilization, regulation of catalytic activity, negative regulation of apoptotic process, cell surface receptor signaling pathway, apoptotic process, 397 352 409 456 523 477 417 448 391 ENSG00000107263 chr9 131576770 131740074 - RAPGEF1 protein_coding This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]. 2889 GO:0048471, GO:0043231, GO:0032991, GO:0030670, GO:0005829, GO:0005769, GO:0005737, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, protein-containing complex, phagocytic vesicle membrane, cytosol, early endosome, cytoplasm, GO:0017124, GO:0005515, GO:0005085, GO:0005085, GO:0005085, SH3 domain binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000178, GO:1990090, GO:1905451, GO:1901888, GO:0098609, GO:0090630, GO:0090090, GO:0071320, GO:0070374, GO:0070373, GO:0061028, GO:0051898, GO:0048008, GO:0046580, GO:0046579, GO:0046328, GO:0043547, GO:0043547, GO:0038180, GO:0032486, GO:0019221, GO:0010976, GO:0007169, GO:0007165, GO:0001568, GO:0000186, negative regulation of neural precursor cell proliferation, cellular response to nerve growth factor stimulus, positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis, regulation of cell junction assembly, cell-cell adhesion, activation of GTPase activity, negative regulation of canonical Wnt signaling pathway, cellular response to cAMP, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, establishment of endothelial barrier, negative regulation of protein kinase B signaling, platelet-derived growth factor receptor signaling pathway, negative regulation of Ras protein signal transduction, positive regulation of Ras protein signal transduction, regulation of JNK cascade, positive regulation of GTPase activity, positive regulation of GTPase activity, nerve growth factor signaling pathway, Rap protein signal transduction, cytokine-mediated signaling pathway, positive regulation of neuron projection development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, blood vessel development, activation of MAPKK activity, 2477 4822 1675 1376 3275 964 1552 2808 877 ENSG00000107281 chr9 137039470 137046203 - NPDC1 protein_coding 56654 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0050776, regulation of immune response, 21 8 27 60 14 37 29 11 9 ENSG00000107282 chr9 69427530 69672306 - APBA1 protein_coding The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]. 320 GO:0098978, GO:0098685, GO:0048471, GO:0043197, GO:0008021, GO:0005886, GO:0005829, GO:0005794, GO:0005737, GO:0005634, glutamatergic synapse, Schaffer collateral - CA1 synapse, perinuclear region of cytoplasm, dendritic spine, synaptic vesicle, plasma membrane, cytosol, Golgi apparatus, cytoplasm, nucleus, GO:0005515, GO:0001540, protein binding, amyloid-beta binding, GO:2000300, GO:0065003, GO:0035264, GO:0014051, GO:0014047, GO:0010468, GO:0008088, GO:0007626, GO:0007399, GO:0007269, GO:0007268, GO:0007155, GO:0006886, GO:0001701, regulation of synaptic vesicle exocytosis, protein-containing complex assembly, multicellular organism growth, gamma-aminobutyric acid secretion, glutamate secretion, regulation of gene expression, axo-dendritic transport, locomotory behavior, nervous system development, neurotransmitter secretion, chemical synaptic transmission, cell adhesion, intracellular protein transport, in utero embryonic development, 0 0 0 0 0 3 0 0 0 ENSG00000107290 chr9 132261356 132354985 - SETX protein_coding This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]. 23064 GO:0045171, GO:0030426, GO:0030424, GO:0016604, GO:0016604, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000781, GO:0000228, intercellular bridge, growth cone, axon, nuclear body, nuclear body, cytoplasm, nucleolus, nucleoplasm, nucleus, chromosome, telomeric region, nuclear chromosome, GO:0042802, GO:0005524, GO:0005515, GO:0003723, GO:0003678, GO:0003677, GO:0001147, GO:0001147, identical protein binding, ATP binding, protein binding, RNA binding, DNA helicase activity, DNA binding, transcription termination site sequence-specific DNA binding, transcription termination site sequence-specific DNA binding, GO:2000806, GO:2000144, GO:0071300, GO:0070301, GO:0060566, GO:0045944, GO:0044344, GO:0043491, GO:0043066, GO:0034599, GO:0033120, GO:0032508, GO:0010976, GO:0008543, GO:0007623, GO:0007283, GO:0006974, GO:0006396, GO:0006376, GO:0006369, GO:0006353, GO:0006310, GO:0006302, GO:0000165, positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled, positive regulation of DNA-templated transcription, initiation, cellular response to retinoic acid, cellular response to hydrogen peroxide, positive regulation of DNA-templated transcription, termination, positive regulation of transcription by RNA polymerase II, cellular response to fibroblast growth factor stimulus, protein kinase B signaling, negative regulation of apoptotic process, cellular response to oxidative stress, positive regulation of RNA splicing, DNA duplex unwinding, positive regulation of neuron projection development, fibroblast growth factor receptor signaling pathway, circadian rhythm, spermatogenesis, cellular response to DNA damage stimulus, RNA processing, mRNA splice site selection, termination of RNA polymerase II transcription, DNA-templated transcription, termination, DNA recombination, double-strand break repair, MAPK cascade, 7969 8391 9069 3509 5193 4291 4097 3604 3515 ENSG00000107295 chr9 17579082 17797129 + SH3GL2 protein_coding 6456 GO:0099523, GO:0098978, GO:0098686, GO:0098685, GO:0097441, GO:0048471, GO:0043025, GO:0030672, GO:0030669, GO:0005886, GO:0005829, GO:0005769, GO:0000139, presynaptic cytosol, glutamatergic synapse, hippocampal mossy fiber to CA3 synapse, Schaffer collateral - CA1 synapse, basal dendrite, perinuclear region of cytoplasm, neuronal cell body, synaptic vesicle membrane, clathrin-coated endocytic vesicle membrane, plasma membrane, cytosol, early endosome, Golgi membrane, GO:0042802, GO:0019901, GO:0008289, GO:0008022, GO:0005515, identical protein binding, protein kinase binding, lipid binding, protein C-terminus binding, protein binding, GO:2000369, GO:1990416, GO:1905604, GO:1903527, GO:0099050, GO:0097753, GO:0097749, GO:0097484, GO:0061024, GO:0060988, GO:0042059, GO:0031175, GO:0019886, GO:0016191, GO:0010629, GO:0007417, GO:0007165, GO:0002090, GO:0001933, regulation of clathrin-dependent endocytosis, cellular response to brain-derived neurotrophic factor stimulus, negative regulation of blood-brain barrier permeability, positive regulation of membrane tubulation, vesicle scission, membrane bending, membrane tubulation, dendrite extension, membrane organization, lipid tube assembly, negative regulation of epidermal growth factor receptor signaling pathway, neuron projection development, antigen processing and presentation of exogenous peptide antigen via MHC class II, synaptic vesicle uncoating, negative regulation of gene expression, central nervous system development, signal transduction, regulation of receptor internalization, negative regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000107317 chr9 136975092 136981742 + PTGDS protein_coding The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008]. 5730 GO:0070062, GO:0048471, GO:0031965, GO:0005794, GO:0005791, GO:0005789, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, nuclear membrane, Golgi apparatus, rough endoplasmic reticulum, endoplasmic reticulum membrane, extracellular space, extracellular space, extracellular region, GO:0005549, GO:0005515, GO:0005504, GO:0005501, GO:0004667, GO:0004667, GO:0004667, odorant binding, protein binding, fatty acid binding, retinoid binding, prostaglandin-D synthase activity, prostaglandin-D synthase activity, prostaglandin-D synthase activity, GO:0045187, GO:0043303, GO:0019371, GO:0001516, GO:0001516, regulation of circadian sleep/wake cycle, sleep, mast cell degranulation, cyclooxygenase pathway, prostaglandin biosynthetic process, prostaglandin biosynthetic process, 2 2 20 14 1 25 3 2 17 ENSG00000107331 chr9 137007227 137028922 - ABCA2 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 20 GO:0043231, GO:0043190, GO:0031410, GO:0016021, GO:0016021, GO:0016020, GO:0010008, GO:0005886, GO:0005815, GO:0005768, GO:0005765, GO:0005764, intracellular membrane-bounded organelle, ATP-binding cassette (ABC) transporter complex, cytoplasmic vesicle, integral component of membrane, integral component of membrane, membrane, endosome membrane, plasma membrane, microtubule organizing center, endosome, lysosomal membrane, lysosome, GO:0099038, GO:0061135, GO:0042626, GO:0042626, GO:0016887, GO:0005524, GO:0005524, GO:0005319, GO:0000166, ceramide floppase activity, endopeptidase regulator activity, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, ATP binding, lipid transporter activity, nucleotide binding, GO:2000008, GO:1905601, GO:1905598, GO:1904375, GO:1902993, GO:1902993, GO:1902004, GO:1902004, GO:1901873, GO:0150110, GO:0150110, GO:0150104, GO:0099040, GO:0090370, GO:0090156, GO:0090155, GO:0071072, GO:0070723, GO:0060049, GO:0055085, GO:0052548, GO:0048545, GO:0046512, GO:0045540, GO:0042986, GO:0042632, GO:0042493, GO:0032805, GO:0032384, GO:0032383, GO:0032289, GO:0010872, GO:0007626, GO:0006869, GO:0006629, GO:0006357, regulation of protein localization to cell surface, negative regulation of receptor-mediated endocytosis involved in cholesterol transport, negative regulation of low-density lipoprotein receptor activity, regulation of protein localization to cell periphery, positive regulation of amyloid precursor protein catabolic process, positive regulation of amyloid precursor protein catabolic process, positive regulation of amyloid-beta formation, positive regulation of amyloid-beta formation, regulation of post-translational protein modification, negative regulation of cholesterol esterification, negative regulation of cholesterol esterification, transport across blood-brain barrier, ceramide translocation, negative regulation of cholesterol efflux, cellular sphingolipid homeostasis, negative regulation of sphingolipid biosynthetic process, negative regulation of phospholipid biosynthetic process, response to cholesterol, regulation of protein glycosylation, transmembrane transport, regulation of endopeptidase activity, response to steroid hormone, sphingosine biosynthetic process, regulation of cholesterol biosynthetic process, positive regulation of amyloid precursor protein biosynthetic process, cholesterol homeostasis, response to drug, positive regulation of low-density lipoprotein particle receptor catabolic process, negative regulation of intracellular cholesterol transport, regulation of intracellular cholesterol transport, central nervous system myelin formation, regulation of cholesterol esterification, locomotory behavior, lipid transport, lipid metabolic process, regulation of transcription by RNA polymerase II, 747 799 1533 1178 993 1799 1050 728 1316 ENSG00000107338 chr9 37919134 38069211 - SHB protein_coding 6461 GO:0036464, GO:0005886, GO:0005829, GO:0005829, GO:0005654, cytoplasmic ribonucleoprotein granule, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0005515, GO:0001784, GO:0001784, protein binding, phosphotyrosine residue binding, phosphotyrosine residue binding, GO:0048010, GO:0030154, GO:0007165, GO:0006915, GO:0001525, vascular endothelial growth factor receptor signaling pathway, cell differentiation, signal transduction, apoptotic process, angiogenesis, 2 3 24 3 1 5 0 0 0 ENSG00000107341 chr9 33817567 33920404 + UBE2R2 protein_coding Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008]. 54926 GO:0005829, cytosol, GO:0061631, GO:0061631, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0070936, GO:0016567, GO:0006513, GO:0006511, GO:0000209, protein K48-linked ubiquitination, protein ubiquitination, protein monoubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 4034 3299 4628 1108 2133 1562 1482 1939 1415 ENSG00000107362 chr9 71862452 71910931 - ABHD17B protein_coding 51104 GO:0099033, GO:0098978, GO:0098839, GO:0055038, GO:0043197, GO:0016020, GO:0010008, GO:0005886, anchored component of postsynaptic recycling endosome membrane, glutamatergic synapse, postsynaptic density membrane, recycling endosome membrane, dendritic spine, membrane, endosome membrane, plasma membrane, GO:0008474, GO:0008474, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, GO:1905668, GO:1902950, GO:1902817, GO:1902473, GO:0099175, GO:0002084, GO:0002084, GO:0002084, positive regulation of protein localization to endosome, regulation of dendritic spine maintenance, negative regulation of protein localization to microtubule, regulation of protein localization to synapse, regulation of postsynapse organization, protein depalmitoylation, protein depalmitoylation, protein depalmitoylation, 131 116 110 77 77 111 74 42 90 ENSG00000107371 chr9 37766978 37801437 - EXOSC3 protein_coding This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]. 51010 GO:0035327, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000178, GO:0000178, GO:0000177, GO:0000177, GO:0000176, GO:0000176, transcriptionally active chromatin, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, exosome (RNase complex), exosome (RNase complex), cytoplasmic exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), nuclear exosome (RNase complex), GO:0005515, GO:0004532, GO:0003723, GO:0000175, protein binding, exoribonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, GO:0071051, GO:0071049, GO:0071038, GO:0071035, GO:0071034, GO:0071034, GO:0045830, GO:0045190, GO:0045006, GO:0043928, GO:0043928, GO:0043928, GO:0043488, GO:0034475, GO:0034427, GO:0006364, GO:0006364, GO:0000467, polyadenylation-dependent snoRNA 3'-end processing, nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription, nuclear polyadenylation-dependent tRNA catabolic process, nuclear polyadenylation-dependent rRNA catabolic process, CUT catabolic process, CUT catabolic process, positive regulation of isotype switching, isotype switching, DNA deamination, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, U4 snRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', rRNA processing, rRNA processing, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 60 65 101 53 29 51 38 43 44 ENSG00000107372 chr9 72351425 72365235 - ZFAND5 protein_coding 7763 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0008270, GO:0005515, GO:0003677, GO:0003674, zinc ion binding, protein binding, DNA binding, molecular_function, GO:0060324, GO:0048745, GO:0048705, GO:0048008, GO:0010761, GO:0008150, GO:0003016, GO:0001944, GO:0001701, face development, smooth muscle tissue development, skeletal system morphogenesis, platelet-derived growth factor receptor signaling pathway, fibroblast migration, biological_process, respiratory system process, vasculature development, in utero embryonic development, 2565 3180 3185 4125 4888 4827 4222 3290 3565 ENSG00000107404 chr1 1335276 1349350 - DVL1 protein_coding DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]. 1855 GO:1990909, GO:0098978, GO:0098793, GO:0045202, GO:0043197, GO:0043025, GO:0043005, GO:0031410, GO:0031410, GO:0030426, GO:0030136, GO:0016328, GO:0014069, GO:0005874, GO:0005829, GO:0005829, Wnt signalosome, glutamatergic synapse, presynapse, synapse, dendritic spine, neuronal cell body, neuron projection, cytoplasmic vesicle, cytoplasmic vesicle, growth cone, clathrin-coated vesicle, lateral plasma membrane, postsynaptic density, microtubule, cytosol, cytosol, GO:0042802, GO:0031267, GO:0019901, GO:0019899, GO:0008013, GO:0005515, GO:0005109, GO:0005109, GO:0005109, GO:0003674, identical protein binding, small GTPase binding, protein kinase binding, enzyme binding, beta-catenin binding, protein binding, frizzled binding, frizzled binding, frizzled binding, molecular_function, GO:2000463, GO:1905386, GO:1904886, GO:1903827, GO:0150012, GO:0099054, GO:0090179, GO:0090103, GO:0090090, GO:0071340, GO:0060997, GO:0060134, GO:0060071, GO:0060071, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0050821, GO:0050808, GO:0048813, GO:0048675, GO:0048668, GO:0045944, GO:0043113, GO:0035567, GO:0035556, GO:0035372, GO:0035176, GO:0034504, GO:0032436, GO:0032091, GO:0031122, GO:0022007, GO:0021915, GO:0007528, GO:0007507, GO:0007411, GO:0007269, GO:0006469, GO:0006355, GO:0001934, GO:0001505, positive regulation of excitatory postsynaptic potential, positive regulation of protein localization to presynapse, beta-catenin destruction complex disassembly, regulation of cellular protein localization, positive regulation of neuron projection arborization, presynapse assembly, planar cell polarity pathway involved in neural tube closure, cochlea morphogenesis, negative regulation of canonical Wnt signaling pathway, skeletal muscle acetylcholine-gated channel clustering, dendritic spine morphogenesis, prepulse inhibition, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, protein stabilization, synapse organization, dendrite morphogenesis, axon extension, collateral sprouting, positive regulation of transcription by RNA polymerase II, receptor clustering, non-canonical Wnt signaling pathway, intracellular signal transduction, protein localization to microtubule, social behavior, protein localization to nucleus, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein binding, cytoplasmic microtubule organization, convergent extension involved in neural plate elongation, neural tube development, neuromuscular junction development, heart development, axon guidance, neurotransmitter secretion, negative regulation of protein kinase activity, regulation of transcription, DNA-templated, positive regulation of protein phosphorylation, regulation of neurotransmitter levels, 128 98 138 113 115 165 112 96 95 ENSG00000107438 chr10 95237572 95291024 - PDLIM1 protein_coding This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]. 9124 GO:0031941, GO:0030018, GO:0030018, GO:0005925, GO:0005912, GO:0005912, GO:0005856, GO:0005737, GO:0005667, GO:0001725, GO:0001725, filamentous actin, Z disc, Z disc, focal adhesion, adherens junction, adherens junction, cytoskeleton, cytoplasm, transcription regulator complex, stress fiber, stress fiber, GO:0098641, GO:0051371, GO:0046872, GO:0005515, GO:0003779, GO:0003779, GO:0003713, cadherin binding involved in cell-cell adhesion, muscle alpha-actinin binding, metal ion binding, protein binding, actin binding, actin binding, transcription coactivator activity, GO:1903508, GO:0098609, GO:0061061, GO:0043149, GO:0030950, GO:0030036, GO:0030036, GO:0030011, GO:0010761, GO:0007507, GO:0006979, GO:0006357, GO:0001666, positive regulation of nucleic acid-templated transcription, cell-cell adhesion, muscle structure development, stress fiber assembly, establishment or maintenance of actin cytoskeleton polarity, actin cytoskeleton organization, actin cytoskeleton organization, maintenance of cell polarity, fibroblast migration, heart development, response to oxidative stress, regulation of transcription by RNA polymerase II, response to hypoxia, 15 16 19 19 20 31 19 12 24 ENSG00000107443 chr10 96043394 96060870 + CCNJ protein_coding 54619 GO:0005813, GO:0005737, GO:0005634, GO:0000307, centrosome, cytoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, cyclin-dependent protein serine/threonine kinase regulator activity, GO:0044772, GO:0000079, mitotic cell cycle phase transition, regulation of cyclin-dependent protein serine/threonine kinase activity, 20 26 21 31 29 32 30 27 41 ENSG00000107447 chr10 96304396 96338564 + DNTT protein_coding This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]. 1791 GO:0016363, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000791, GO:0000785, nuclear matrix, cytosol, nucleoplasm, nucleus, nucleus, euchromatin, chromatin, GO:0046872, GO:0005515, GO:0003912, GO:0003912, GO:0003887, GO:0003677, metal ion binding, protein binding, DNA nucleotidylexotransferase activity, DNA nucleotidylexotransferase activity, DNA-directed DNA polymerase activity, DNA binding, GO:0071897, GO:0033198, GO:0006304, GO:0006303, GO:0006259, DNA biosynthetic process, response to ATP, DNA modification, double-strand break repair via nonhomologous end joining, DNA metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000107485 chr10 8045378 8075203 + GATA3 protein_coding This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]. 2625 GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0071837, GO:0070888, GO:0042802, GO:0008270, GO:0008134, GO:0005515, GO:0005134, GO:0003713, GO:0003700, GO:0003700, GO:0003677, GO:0001228, GO:0001227, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, HMG box domain binding, E-box binding, identical protein binding, zinc ion binding, transcription factor binding, protein binding, interleukin-2 receptor binding, transcription coactivator activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000734, GO:2000703, GO:2000683, GO:2000679, GO:2000617, GO:2000611, GO:2000607, GO:2000553, GO:2000352, GO:2000146, GO:2000114, GO:1902895, GO:1902036, GO:1901536, GO:0090102, GO:0072676, GO:0072197, GO:0072182, GO:0072179, GO:0072178, GO:0072107, GO:0071773, GO:0071599, GO:0071442, GO:0071356, GO:0071353, GO:0061290, GO:0061085, GO:0060676, GO:0060374, GO:0060231, GO:0060065, GO:0060037, GO:0060017, GO:0051897, GO:0051569, GO:0050852, GO:0050728, GO:0048646, GO:0048589, GO:0048568, GO:0048538, GO:0048485, GO:0048469, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045892, GO:0045786, GO:0045599, GO:0045582, GO:0045471, GO:0045165, GO:0045087, GO:0045064, GO:0045061, GO:0043627, GO:0043583, GO:0043523, GO:0043370, GO:0042493, GO:0042472, GO:0042421, GO:0035898, GO:0035799, GO:0035457, GO:0035162, GO:0033600, GO:0032754, GO:0032753, GO:0032736, GO:0032736, GO:0032703, GO:0032689, GO:0032633, GO:0032609, GO:0031929, GO:0030856, GO:0030218, GO:0030217, GO:0019221, GO:0016579, GO:0014065, GO:0010975, GO:0010719, GO:0010595, GO:0010332, GO:0009967, GO:0009791, GO:0009653, GO:0009615, GO:0008584, GO:0008285, GO:0007596, GO:0007411, GO:0007165, GO:0006959, GO:0006952, GO:0006338, GO:0003281, GO:0003215, GO:0003180, GO:0002572, GO:0002520, GO:0002088, GO:0001823, GO:0001822, GO:0001817, GO:0001806, GO:0001764, GO:0001709, GO:0001701, GO:0000122, negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation, negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation, regulation of cellular response to X-ray, positive regulation of transcription regulatory region DNA binding, positive regulation of histone H3-K9 acetylation, positive regulation of thyroid hormone generation, negative regulation of cell proliferation involved in mesonephros development, positive regulation of T-helper 2 cell cytokine production, negative regulation of endothelial cell apoptotic process, negative regulation of cell motility, regulation of establishment of cell polarity, positive regulation of pri-miRNA transcription by RNA polymerase II, regulation of hematopoietic stem cell differentiation, negative regulation of DNA demethylation, cochlea development, lymphocyte migration, ureter morphogenesis, regulation of nephron tubule epithelial cell differentiation, nephric duct formation, nephric duct morphogenesis, positive regulation of ureteric bud formation, cellular response to BMP stimulus, otic vesicle development, positive regulation of histone H3-K14 acetylation, cellular response to tumor necrosis factor, cellular response to interleukin-4, canonical Wnt signaling pathway involved in metanephric kidney development, regulation of histone H3-K27 methylation, ureteric bud formation, mast cell differentiation, mesenchymal to epithelial transition, uterus development, pharyngeal system development, parathyroid gland development, positive regulation of protein kinase B signaling, regulation of histone H3-K4 methylation, T cell receptor signaling pathway, negative regulation of inflammatory response, anatomical structure formation involved in morphogenesis, developmental growth, embryonic organ development, thymus development, sympathetic nervous system development, cell maturation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of cell cycle, negative regulation of fat cell differentiation, positive regulation of T cell differentiation, response to ethanol, cell fate commitment, innate immune response, T-helper 2 cell differentiation, thymic T cell selection, response to estrogen, ear development, regulation of neuron apoptotic process, regulation of CD4-positive, alpha-beta T cell differentiation, response to drug, inner ear morphogenesis, norepinephrine biosynthetic process, parathyroid hormone secretion, ureter maturation, cellular response to interferon-alpha, embryonic hemopoiesis, negative regulation of mammary gland epithelial cell proliferation, positive regulation of interleukin-5 production, positive regulation of interleukin-4 production, positive regulation of interleukin-13 production, positive regulation of interleukin-13 production, negative regulation of interleukin-2 production, negative regulation of interferon-gamma production, interleukin-4 production, interferon-gamma production, TOR signaling, regulation of epithelial cell differentiation, erythrocyte differentiation, T cell differentiation, cytokine-mediated signaling pathway, protein deubiquitination, phosphatidylinositol 3-kinase signaling, regulation of neuron projection development, negative regulation of epithelial to mesenchymal transition, positive regulation of endothelial cell migration, response to gamma radiation, positive regulation of signal transduction, post-embryonic development, anatomical structure morphogenesis, response to virus, male gonad development, negative regulation of cell population proliferation, blood coagulation, axon guidance, signal transduction, humoral immune response, defense response, chromatin remodeling, ventricular septum development, cardiac right ventricle morphogenesis, aortic valve morphogenesis, pro-T cell differentiation, immune system development, lens development in camera-type eye, mesonephros development, kidney development, regulation of cytokine production, type IV hypersensitivity, neuron migration, cell fate determination, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 82 51 164 80 22 117 85 45 80 ENSG00000107518 chr10 115093365 115948992 + ATRNL1 protein_coding 26033 GO:0016021, GO:0005604, integral component of membrane, basement membrane, GO:0030246, carbohydrate binding, GO:0034446, GO:0016477, GO:0009888, GO:0009887, GO:0007186, substrate adhesion-dependent cell spreading, cell migration, tissue development, animal organ morphogenesis, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000107521 chr10 98416198 98446947 - HPS1 protein_coding This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]. 3257 GO:0031410, GO:0031085, GO:0031085, GO:0005829, GO:0005764, GO:0005737, cytoplasmic vesicle, BLOC-3 complex, BLOC-3 complex, cytosol, lysosome, cytoplasm, GO:0046983, GO:0005515, GO:0005085, GO:0005085, protein dimerization activity, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1903232, GO:1903232, GO:0050896, GO:0016192, GO:0007601, GO:0007040, melanosome assembly, melanosome assembly, response to stimulus, vesicle-mediated transport, visual perception, lysosome organization, 538 610 736 596 724 743 539 603 633 ENSG00000107537 chr10 13277796 13302412 - PHYH protein_coding This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 5264 GO:0097731, GO:0005829, GO:0005782, GO:0005777, GO:0005739, 9+0 non-motile cilium, cytosol, peroxisomal matrix, peroxisome, mitochondrion, GO:0048244, GO:0048244, GO:0031418, GO:0031406, GO:0008198, GO:0005515, phytanoyl-CoA dioxygenase activity, phytanoyl-CoA dioxygenase activity, L-ascorbic acid binding, carboxylic acid binding, ferrous iron binding, protein binding, GO:0097089, GO:0019606, GO:0006720, GO:0006625, GO:0006103, GO:0001561, GO:0001561, GO:0001561, methyl-branched fatty acid metabolic process, 2-oxobutyrate catabolic process, isoprenoid metabolic process, protein targeting to peroxisome, 2-oxoglutarate metabolic process, fatty acid alpha-oxidation, fatty acid alpha-oxidation, fatty acid alpha-oxidation, 11 11 22 20 5 45 21 17 6 ENSG00000107551 chr10 44959407 44995891 + RASSF4 protein_coding The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]. 83937 GO:0005515, protein binding, GO:0007165, GO:0007165, GO:0007049, signal transduction, signal transduction, cell cycle, 14 35 45 37 61 93 55 40 43 ENSG00000107554 chr10 99875577 100009919 - DNMBP protein_coding This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 23268 GO:0098793, GO:0045202, GO:0005911, GO:0005856, GO:0005795, GO:0005794, presynapse, synapse, cell-cell junction, cytoskeleton, Golgi stack, Golgi apparatus, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0035556, GO:0008360, GO:0007568, intracellular signal transduction, regulation of cell shape, aging, 130 244 265 78 162 111 78 131 109 ENSG00000107560 chr10 118004916 118046603 - RAB11FIP2 protein_coding 22841 GO:0055038, GO:0043231, GO:0043231, GO:0042995, GO:0030659, GO:0005768, GO:0005768, GO:0005654, GO:0001891, GO:0001891, recycling endosome membrane, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle membrane, endosome, endosome, nucleoplasm, phagocytic cup, phagocytic cup, GO:0042803, GO:0042802, GO:0031267, GO:0019901, GO:0005515, protein homodimerization activity, identical protein binding, small GTPase binding, protein kinase binding, protein binding, GO:1903078, GO:0045055, GO:0045055, GO:0043547, GO:0035773, GO:0035669, GO:0030010, GO:0006909, GO:0003091, positive regulation of protein localization to plasma membrane, regulated exocytosis, regulated exocytosis, positive regulation of GTPase activity, insulin secretion involved in cellular response to glucose stimulus, TRAM-dependent toll-like receptor 4 signaling pathway, establishment of cell polarity, phagocytosis, renal water homeostasis, 271 250 272 167 234 216 226 207 170 ENSG00000107562 chr10 44370165 44386493 - CXCL12 protein_coding This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. 6387 GO:0070062, GO:0062023, GO:0009897, GO:0005737, GO:0005634, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, external side of plasma membrane, cytoplasm, nucleus, extracellular region, GO:0045236, GO:0045236, GO:0042379, GO:0008083, GO:0008009, GO:0008009, GO:0008009, GO:0008009, GO:0005515, GO:0005178, GO:0005102, CXCR chemokine receptor binding, CXCR chemokine receptor binding, chemokine receptor binding, growth factor activity, chemokine activity, chemokine activity, chemokine activity, chemokine activity, protein binding, integrin binding, signaling receptor binding, GO:2000669, GO:2000406, GO:1990869, GO:1990478, GO:1903237, GO:1902230, GO:0090280, GO:0090026, GO:0070098, GO:0070098, GO:0060326, GO:0060326, GO:0050966, GO:0050965, GO:0050930, GO:0048842, GO:0045785, GO:0043434, GO:0038146, GO:0033622, GO:0033603, GO:0031100, GO:0030335, GO:0022029, GO:0016032, GO:0009615, GO:0009408, GO:0009314, GO:0008344, GO:0008064, GO:0008015, GO:0007411, GO:0007411, GO:0007186, GO:0007165, GO:0007155, GO:0006955, GO:0006952, GO:0006935, GO:0006874, GO:0001938, GO:0001764, GO:0001666, negative regulation of dendritic cell apoptotic process, positive regulation of T cell migration, cellular response to chemokine, response to ultrasound, negative regulation of leukocyte tethering or rolling, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of calcium ion import, positive regulation of monocyte chemotaxis, chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, cell chemotaxis, cell chemotaxis, detection of mechanical stimulus involved in sensory perception of pain, detection of temperature stimulus involved in sensory perception of pain, induction of positive chemotaxis, positive regulation of axon extension involved in axon guidance, positive regulation of cell adhesion, response to peptide hormone, chemokine (C-X-C motif) ligand 12 signaling pathway, integrin activation, positive regulation of dopamine secretion, animal organ regeneration, positive regulation of cell migration, telencephalon cell migration, viral process, response to virus, response to heat, response to radiation, adult locomotory behavior, regulation of actin polymerization or depolymerization, blood circulation, axon guidance, axon guidance, G protein-coupled receptor signaling pathway, signal transduction, cell adhesion, immune response, defense response, chemotaxis, cellular calcium ion homeostasis, positive regulation of endothelial cell proliferation, neuron migration, response to hypoxia, 0 0 0 3 0 0 0 0 0 ENSG00000107566 chr10 100150094 100188334 - ERLIN1 protein_coding The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]. 10613 GO:0032991, GO:0016021, GO:0005789, GO:0005789, GO:0005789, GO:0005783, protein-containing complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0031625, GO:0015485, GO:0015485, GO:0005515, ubiquitin protein ligase binding, cholesterol binding, cholesterol binding, protein binding, GO:0055085, GO:0045717, GO:0045541, GO:0032933, GO:0032933, GO:0030433, GO:0008203, transmembrane transport, negative regulation of fatty acid biosynthetic process, negative regulation of cholesterol biosynthetic process, SREBP signaling pathway, SREBP signaling pathway, ubiquitin-dependent ERAD pathway, cholesterol metabolic process, 214 324 432 126 215 295 124 178 202 ENSG00000107581 chr10 119033670 119080823 - EIF3A protein_coding 8661 GO:0071541, GO:0071540, GO:0043614, GO:0033290, GO:0016282, GO:0016020, GO:0014069, GO:0005874, GO:0005852, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, eukaryotic translation initiation factor 3 complex, eIF3m, eukaryotic translation initiation factor 3 complex, eIF3e, multi-eIF complex, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, membrane, postsynaptic density, microtubule, eukaryotic translation initiation factor 3 complex, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:0030971, GO:0005515, GO:0005198, GO:0003743, GO:0003743, GO:0003743, GO:0003729, GO:0003723, GO:0003723, receptor tyrosine kinase binding, protein binding, structural molecule activity, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, mRNA binding, RNA binding, RNA binding, GO:0075525, GO:0075522, GO:0070373, GO:0006413, GO:0006413, GO:0002188, GO:0001732, GO:0001732, viral translational termination-reinitiation, IRES-dependent viral translational initiation, negative regulation of ERK1 and ERK2 cascade, translational initiation, translational initiation, translation reinitiation, formation of cytoplasmic translation initiation complex, formation of cytoplasmic translation initiation complex, 1170 1286 1540 1290 1013 1250 1267 818 949 ENSG00000107593 chr10 100288154 100330486 - PKD2L1 protein_coding This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 9033 GO:0097730, GO:0060170, GO:0043235, GO:0043231, GO:0034704, GO:0031410, GO:0016021, GO:0016020, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005783, non-motile cilium, ciliary membrane, receptor complex, intracellular membrane-bounded organelle, calcium channel complex, cytoplasmic vesicle, integral component of membrane, membrane, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0051393, GO:0051371, GO:0051371, GO:0042802, GO:0033040, GO:0015269, GO:0015269, GO:0008324, GO:0008092, GO:0005515, GO:0005509, GO:0005509, GO:0005509, GO:0005272, GO:0005272, GO:0005262, GO:0005262, GO:0005261, GO:0005227, alpha-actinin binding, muscle alpha-actinin binding, muscle alpha-actinin binding, identical protein binding, sour taste receptor activity, calcium-activated potassium channel activity, calcium-activated potassium channel activity, cation transmembrane transporter activity, cytoskeletal protein binding, protein binding, calcium ion binding, calcium ion binding, calcium ion binding, sodium channel activity, sodium channel activity, calcium channel activity, calcium channel activity, cation channel activity, calcium activated cation channel activity, GO:0098662, GO:0071805, GO:0071805, GO:0071468, GO:0070588, GO:0051289, GO:0050982, GO:0050915, GO:0050912, GO:0035725, GO:0009415, GO:0007224, GO:0006812, GO:0001581, inorganic cation transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to acidic pH, calcium ion transmembrane transport, protein homotetramerization, detection of mechanical stimulus, sensory perception of sour taste, detection of chemical stimulus involved in sensory perception of taste, sodium ion transmembrane transport, response to water, smoothened signaling pathway, cation transport, detection of chemical stimulus involved in sensory perception of sour taste, 0 0 11 1 1 3 2 3 6 ENSG00000107611 chr10 16823966 17129817 - CUBN protein_coding Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]. 8029 GO:0070062, GO:0070062, GO:0043235, GO:0043202, GO:0031526, GO:0031526, GO:0031232, GO:0030139, GO:0016324, GO:0016324, GO:0016020, GO:0010008, GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005783, GO:0005765, extracellular exosome, extracellular exosome, receptor complex, lysosomal lumen, brush border membrane, brush border membrane, extrinsic component of external side of plasma membrane, endocytic vesicle, apical plasma membrane, apical plasma membrane, membrane, endosome membrane, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, lysosomal membrane, GO:0042803, GO:0038024, GO:0038023, GO:0031419, GO:0005515, GO:0005509, protein homodimerization activity, cargo receptor activity, signaling receptor activity, cobalamin binding, protein binding, calcium ion binding, GO:0042953, GO:0042359, GO:0034384, GO:0015889, GO:0009617, GO:0009235, GO:0008203, GO:0006898, GO:0001894, lipoprotein transport, vitamin D metabolic process, high-density lipoprotein particle clearance, cobalamin transport, response to bacterium, cobalamin metabolic process, cholesterol metabolic process, receptor-mediated endocytosis, tissue homeostasis, 30 21 15 60 23 23 47 20 38 ENSG00000107614 chr10 17142254 17202054 - TRDMT1 protein_coding This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]. 1787 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0016428, GO:0016428, GO:0008175, GO:0003723, tRNA (cytosine-5-)-methyltransferase activity, tRNA (cytosine-5-)-methyltransferase activity, tRNA methyltransferase activity, RNA binding, GO:0036416, GO:0030488, GO:0006400, GO:0001975, tRNA stabilization, tRNA methylation, tRNA modification, response to amphetamine, 88 84 61 69 98 93 100 82 89 ENSG00000107625 chr10 68901278 68946847 + DDX50 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]. 79009 GO:0016020, GO:0005886, GO:0005730, GO:0005730, membrane, plasma membrane, nucleolus, nucleolus, GO:0005524, GO:0003724, GO:0003723, GO:0003723, ATP binding, RNA helicase activity, RNA binding, RNA binding, 255 215 330 185 136 206 138 132 130 ENSG00000107643 chr10 48306639 48439360 + MAPK8 protein_coding The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Apr 2016]. 5599 GO:0097441, GO:0045202, GO:0030424, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, basal dendrite, synapse, axon, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0042826, GO:0035033, GO:0019899, GO:0016301, GO:0005524, GO:0005515, GO:0004707, GO:0004705, GO:0004705, GO:0004705, GO:0004674, histone deacetylase binding, histone deacetylase regulator activity, enzyme binding, kinase activity, ATP binding, protein binding, MAP kinase activity, JUN kinase activity, JUN kinase activity, JUN kinase activity, protein serine/threonine kinase activity, GO:1902595, GO:1900740, GO:0090045, GO:0071345, GO:0071276, GO:0071260, GO:0071222, GO:0051403, GO:0051247, GO:0051090, GO:0048511, GO:0043066, GO:0043065, GO:0043065, GO:0042752, GO:0038095, GO:0035556, GO:0034614, GO:0034198, GO:0032880, GO:0032091, GO:0031281, GO:0031063, GO:0018107, GO:0018107, GO:0018105, GO:0016241, GO:0010628, GO:0010468, GO:0009612, GO:0009411, GO:0007258, GO:0007254, GO:0007254, GO:0007254, GO:0006979, GO:0006468, GO:0006468, regulation of DNA replication origin binding, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, positive regulation of deacetylase activity, cellular response to cytokine stimulus, cellular response to cadmium ion, cellular response to mechanical stimulus, cellular response to lipopolysaccharide, stress-activated MAPK cascade, positive regulation of protein metabolic process, regulation of DNA-binding transcription factor activity, rhythmic process, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of circadian rhythm, Fc-epsilon receptor signaling pathway, intracellular signal transduction, cellular response to reactive oxygen species, cellular response to amino acid starvation, regulation of protein localization, negative regulation of protein binding, positive regulation of cyclase activity, regulation of histone deacetylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, regulation of macroautophagy, positive regulation of gene expression, regulation of gene expression, response to mechanical stimulus, response to UV, JUN phosphorylation, JNK cascade, JNK cascade, JNK cascade, response to oxidative stress, protein phosphorylation, protein phosphorylation, 386 362 435 354 371 323 326 304 295 ENSG00000107651 chr10 119892711 119944658 + SEC23IP protein_coding This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]. 11196 GO:0043231, GO:0030134, GO:0030134, GO:0012507, GO:0005829, GO:0005794, GO:0005793, GO:0005783, GO:0005737, GO:0000139, intracellular membrane-bounded organelle, COPII-coated ER to Golgi transport vesicle, COPII-coated ER to Golgi transport vesicle, ER to Golgi transport vesicle membrane, cytosol, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, cytoplasm, Golgi membrane, GO:0046872, GO:0005515, GO:0004620, GO:0003723, metal ion binding, protein binding, phospholipase activity, RNA binding, GO:0048208, GO:0007030, GO:0006886, COPII vesicle coating, Golgi organization, intracellular protein transport, 361 318 348 188 144 172 172 169 140 ENSG00000107669 chr10 121740421 121928801 - ATE1 protein_coding This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 11101 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0005515, GO:0004057, GO:0004057, protein binding, arginyltransferase activity, arginyltransferase activity, GO:0016598, GO:0016598, GO:0010498, protein arginylation, protein arginylation, proteasomal protein catabolic process, 85 87 113 104 77 90 85 72 74 ENSG00000107672 chr10 121957088 121975217 - NSMCE4A protein_coding 54780 GO:0030915, GO:0030915, GO:0016604, GO:0005654, GO:0005654, GO:0005634, GO:0000781, Smc5-Smc6 complex, Smc5-Smc6 complex, nuclear body, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0005515, protein binding, GO:2001022, GO:2001022, GO:0006310, GO:0006281, positive regulation of response to DNA damage stimulus, positive regulation of response to DNA damage stimulus, DNA recombination, DNA repair, 12 24 49 54 20 96 66 16 81 ENSG00000107679 chr10 122374696 122442602 + PLEKHA1 protein_coding This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]. 59338 GO:0070062, GO:0032587, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, extracellular exosome, ruffle membrane, membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0043325, GO:0030165, GO:0030165, GO:0005515, phosphatidylinositol-3,4-bisphosphate binding, PDZ domain binding, PDZ domain binding, protein binding, GO:0070301, GO:0060325, GO:0060021, GO:0051898, GO:0050853, GO:0048705, GO:0048008, GO:0045184, GO:0035264, GO:0033327, GO:0031529, GO:0014065, GO:0009791, GO:0008210, GO:0008209, GO:0007283, GO:0006661, GO:0001553, cellular response to hydrogen peroxide, face morphogenesis, roof of mouth development, negative regulation of protein kinase B signaling, B cell receptor signaling pathway, skeletal system morphogenesis, platelet-derived growth factor receptor signaling pathway, establishment of protein localization, multicellular organism growth, Leydig cell differentiation, ruffle organization, phosphatidylinositol 3-kinase signaling, post-embryonic development, estrogen metabolic process, androgen metabolic process, spermatogenesis, phosphatidylinositol biosynthetic process, luteinization, 31 36 115 176 35 226 140 49 88 ENSG00000107719 chr10 70478821 70568449 + PALD1 protein_coding 27143 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005515, GO:0004725, protein binding, protein tyrosine phosphatase activity, GO:0035335, peptidyl-tyrosine dephosphorylation, 2 1 3 1 0 2 2 0 0 ENSG00000107731 chr10 71212570 71302864 + UNC5B protein_coding This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]. 219699 GO:0045121, GO:0016021, GO:0005886, membrane raft, integral component of membrane, plasma membrane, GO:0005515, GO:0005042, protein binding, netrin receptor activity, GO:2001240, GO:0043524, GO:0038007, GO:0033564, GO:0014068, GO:0007411, GO:0006915, GO:0001525, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of neuron apoptotic process, netrin-activated signaling pathway, anterior/posterior axon guidance, positive regulation of phosphatidylinositol 3-kinase signaling, axon guidance, apoptotic process, angiogenesis, 0 1 1 0 0 0 1 0 0 ENSG00000107736 chr10 71396934 71815947 + CDH23 protein_coding This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]. 64072 GO:0032420, GO:0016342, GO:0016021, GO:0016020, stereocilium, catenin complex, integral component of membrane, membrane, GO:0045296, GO:0005515, GO:0005509, cadherin binding, protein binding, calcium ion binding, GO:0098742, GO:0060122, GO:0051480, GO:0050957, GO:0050953, GO:0050896, GO:0045494, GO:0016339, GO:0007626, GO:0007605, GO:0007601, GO:0007156, GO:0006816, cell-cell adhesion via plasma-membrane adhesion molecules, inner ear receptor cell stereocilium organization, regulation of cytosolic calcium ion concentration, equilibrioception, sensory perception of light stimulus, response to stimulus, photoreceptor cell maintenance, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, locomotory behavior, sensory perception of sound, visual perception, homophilic cell adhesion via plasma membrane adhesion molecules, calcium ion transport, 727 1346 1512 667 1642 1211 910 1187 1033 ENSG00000107738 chr10 71747559 71773498 - VSIR protein_coding 64115 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0061133, GO:0042802, GO:0019899, GO:0005515, endopeptidase activator activity, identical protein binding, enzyme binding, protein binding, GO:2000565, GO:2000562, GO:0120158, GO:0050776, GO:0045591, GO:0032720, GO:0032700, GO:0032693, GO:0032689, GO:0031638, GO:0030335, GO:0010950, GO:0010628, negative regulation of CD8-positive, alpha-beta T cell proliferation, negative regulation of CD4-positive, alpha-beta T cell proliferation, positive regulation of collagen catabolic process, regulation of immune response, positive regulation of regulatory T cell differentiation, negative regulation of tumor necrosis factor production, negative regulation of interleukin-17 production, negative regulation of interleukin-10 production, negative regulation of interferon-gamma production, zymogen activation, positive regulation of cell migration, positive regulation of endopeptidase activity, positive regulation of gene expression, 16418 15740 21297 6114 11781 10412 7907 9991 9518 ENSG00000107742 chr10 72059035 72089032 - SPOCK2 protein_coding This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 9806 GO:0031012, extracellular matrix, GO:0050840, GO:0008191, GO:0005539, GO:0005515, GO:0005509, extracellular matrix binding, metalloendopeptidase inhibitor activity, glycosaminoglycan binding, protein binding, calcium ion binding, GO:2000147, GO:1990830, GO:0045595, GO:0030198, GO:0019800, GO:0010951, GO:0010811, GO:0007416, positive regulation of cell motility, cellular response to leukemia inhibitory factor, regulation of cell differentiation, extracellular matrix organization, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, negative regulation of endopeptidase activity, positive regulation of cell-substrate adhesion, synapse assembly, 792 492 1104 1004 424 1097 890 435 856 ENSG00000107745 chr10 72367327 72626191 - MICU1 protein_coding This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]. 10367 GO:1990246, GO:1990246, GO:0034704, GO:0032592, GO:0005758, GO:0005743, GO:0005743, GO:0005743, GO:0005739, GO:0005739, GO:0005622, uniplex complex, uniplex complex, calcium channel complex, integral component of mitochondrial membrane, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, intracellular anatomical structure, GO:0046982, GO:0042802, GO:0005515, GO:0005509, GO:0005509, GO:0005509, protein heterodimerization activity, identical protein binding, protein binding, calcium ion binding, calcium ion binding, calcium ion binding, GO:1900069, GO:0070509, GO:0051561, GO:0051561, GO:0051560, GO:0051560, GO:0051260, GO:0036444, GO:0036444, GO:0006952, GO:0006851, GO:0006851, GO:0006851, regulation of cellular hyperosmotic salinity response, calcium ion import, positive regulation of mitochondrial calcium ion concentration, positive regulation of mitochondrial calcium ion concentration, mitochondrial calcium ion homeostasis, mitochondrial calcium ion homeostasis, protein homooligomerization, calcium import into the mitochondrion, calcium import into the mitochondrion, defense response, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, 473 448 499 145 258 284 240 293 224 ENSG00000107758 chr10 73436428 73496024 - PPP3CB protein_coding 5532 GO:0098978, GO:0030315, GO:0030018, GO:0005955, GO:0005955, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, glutamatergic synapse, T-tubule, Z disc, calcineurin complex, calcineurin complex, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0106307, GO:0106306, GO:0046983, GO:0033192, GO:0033192, GO:0033192, GO:0033192, GO:0030346, GO:0019899, GO:0005516, GO:0005516, GO:0005516, GO:0005515, GO:0005509, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, protein dimerization activity, calmodulin-dependent protein phosphatase activity, calmodulin-dependent protein phosphatase activity, calmodulin-dependent protein phosphatase activity, calmodulin-dependent protein phosphatase activity, protein phosphatase 2B binding, enzyme binding, calmodulin binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, protein serine/threonine phosphatase activity, GO:1900242, GO:0097720, GO:0097720, GO:0050796, GO:0048675, GO:0048167, GO:0045944, GO:0045893, GO:0043029, GO:0042110, GO:0042098, GO:0038095, GO:0035774, GO:0034097, GO:0033173, GO:0031987, GO:0030217, GO:0017156, GO:0016311, GO:0007613, GO:0007612, GO:0007507, GO:0007223, GO:0007165, GO:0006470, GO:0006470, GO:0006468, GO:0001946, GO:0001915, regulation of synaptic vesicle endocytosis, calcineurin-mediated signaling, calcineurin-mediated signaling, regulation of insulin secretion, axon extension, regulation of synaptic plasticity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, T cell homeostasis, T cell activation, T cell proliferation, Fc-epsilon receptor signaling pathway, positive regulation of insulin secretion involved in cellular response to glucose stimulus, response to cytokine, calcineurin-NFAT signaling cascade, locomotion involved in locomotory behavior, T cell differentiation, calcium-ion regulated exocytosis, dephosphorylation, memory, learning, heart development, Wnt signaling pathway, calcium modulating pathway, signal transduction, protein dephosphorylation, protein dephosphorylation, protein phosphorylation, lymphangiogenesis, negative regulation of T cell mediated cytotoxicity, 310 256 331 238 241 273 260 191 177 ENSG00000107771 chr10 84328558 84518521 + CCSER2 protein_coding 54462 GO:0015630, GO:0005737, microtubule cytoskeleton, cytoplasm, GO:0008017, microtubule binding, GO:0001578, microtubule bundle formation, 397 387 383 409 334 435 459 311 445 ENSG00000107779 chr10 86756601 86932838 + BMPR1A protein_coding The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]. 657 GO:1990712, GO:0043235, GO:0043025, GO:0030425, GO:0016021, GO:0009897, GO:0005901, GO:0005886, GO:0005886, GO:0005886, HFE-transferrin receptor complex, receptor complex, neuronal cell body, dendrite, integral component of membrane, external side of plasma membrane, caveola, plasma membrane, plasma membrane, plasma membrane, GO:0098821, GO:0046872, GO:0046332, GO:0046332, GO:0042803, GO:0005524, GO:0005515, GO:0005025, GO:0004675, GO:0004674, GO:0004674, GO:0000981, BMP receptor activity, metal ion binding, SMAD binding, SMAD binding, protein homodimerization activity, ATP binding, protein binding, transforming growth factor beta receptor activity, type I, transmembrane receptor protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:2000772, GO:1905292, GO:1905285, GO:1904707, GO:1904414, GO:1902895, GO:0071773, GO:0071363, GO:0061626, GO:0061312, GO:0060914, GO:0060391, GO:0060045, GO:0060043, GO:0060021, GO:0050768, GO:0050679, GO:0048589, GO:0048568, GO:0048382, GO:0048378, GO:0048368, GO:0048352, GO:0045944, GO:0045944, GO:0045669, GO:0042733, GO:0042475, GO:0035912, GO:0035137, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030501, GO:0030324, GO:0021998, GO:0021983, GO:0019827, GO:0014912, GO:0014032, GO:0010862, GO:0010665, GO:0009953, GO:0009950, GO:0007398, GO:0007179, GO:0006955, GO:0006468, GO:0006468, GO:0003272, GO:0003223, GO:0003222, GO:0003215, GO:0003203, GO:0003186, GO:0003183, GO:0003161, GO:0003151, GO:0003148, GO:0002062, GO:0002053, GO:0001880, GO:0001756, GO:0001707, GO:0001701, regulation of cellular senescence, regulation of neural crest cell differentiation, fibrous ring of heart morphogenesis, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of cardiac ventricle development, positive regulation of pri-miRNA transcription by RNA polymerase II, cellular response to BMP stimulus, cellular response to growth factor stimulus, pharyngeal arch artery morphogenesis, BMP signaling pathway involved in heart development, heart formation, positive regulation of SMAD protein signal transduction, positive regulation of cardiac muscle cell proliferation, regulation of cardiac muscle cell proliferation, roof of mouth development, negative regulation of neurogenesis, positive regulation of epithelial cell proliferation, developmental growth, embryonic organ development, mesendoderm development, regulation of lateral mesodermal cell fate specification, lateral mesoderm development, paraxial mesoderm structural organization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of osteoblast differentiation, embryonic digit morphogenesis, odontogenesis of dentin-containing tooth, dorsal aorta morphogenesis, hindlimb morphogenesis, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, lung development, neural plate mediolateral regionalization, pituitary gland development, stem cell population maintenance, negative regulation of smooth muscle cell migration, neural crest cell development, positive regulation of pathway-restricted SMAD protein phosphorylation, regulation of cardiac muscle cell apoptotic process, dorsal/ventral pattern formation, dorsal/ventral axis specification, ectoderm development, transforming growth factor beta receptor signaling pathway, immune response, protein phosphorylation, protein phosphorylation, endocardial cushion formation, ventricular compact myocardium morphogenesis, ventricular trabecula myocardium morphogenesis, cardiac right ventricle morphogenesis, endocardial cushion morphogenesis, tricuspid valve morphogenesis, mitral valve morphogenesis, cardiac conduction system development, outflow tract morphogenesis, outflow tract septum morphogenesis, chondrocyte differentiation, positive regulation of mesenchymal cell proliferation, Mullerian duct regression, somitogenesis, mesoderm formation, in utero embryonic development, 8 2 13 22 6 25 9 1 19 ENSG00000107789 chr10 87504875 87553460 + MINPP1 protein_coding This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]. 9562 GO:0070062, GO:0005788, GO:0005783, extracellular exosome, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0101006, GO:0052826, GO:0052745, GO:0052745, GO:0051717, GO:0034417, GO:0030351, GO:0005515, GO:0003993, protein histidine phosphatase activity, inositol hexakisphosphate 2-phosphatase activity, inositol phosphate phosphatase activity, inositol phosphate phosphatase activity, inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity, bisphosphoglycerate 3-phosphatase activity, inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity, protein binding, acid phosphatase activity, GO:0043647, GO:0030282, GO:0006797, GO:0006470, GO:0001503, inositol phosphate metabolic process, bone mineralization, polyphosphate metabolic process, protein dephosphorylation, ossification, 3 11 3 15 7 7 18 0 12 ENSG00000107796 chr10 88935074 88991339 - ACTA2 protein_coding This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]. 59 GO:0070062, GO:0044297, GO:0032991, GO:0030485, GO:0030175, GO:0030027, GO:0005869, GO:0005829, GO:0005737, GO:0005737, GO:0005615, extracellular exosome, cell body, protein-containing complex, smooth muscle contractile fiber, filopodium, lamellipodium, dynactin complex, cytosol, cytoplasm, cytoplasm, extracellular space, GO:0019901, GO:0005524, protein kinase binding, ATP binding, GO:0090131, GO:0072144, GO:0045893, GO:0014829, GO:0010628, GO:0009615, GO:0008217, GO:0006936, mesenchyme migration, glomerular mesangial cell development, positive regulation of transcription, DNA-templated, vascular associated smooth muscle contraction, positive regulation of gene expression, response to virus, regulation of blood pressure, muscle contraction, 76 27 114 51 39 66 54 34 80 ENSG00000107798 chr10 89213569 89414557 - LIPA protein_coding This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]. 3988 GO:0043231, GO:0043231, GO:0043202, GO:0005764, GO:0001650, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, lysosomal lumen, lysosome, fibrillar center, GO:0016298, GO:0004771, GO:0004771, GO:0004771, GO:0004771, lipase activity, sterol esterase activity, sterol esterase activity, sterol esterase activity, sterol esterase activity, GO:0034383, GO:0016125, GO:0016042, low-density lipoprotein particle clearance, sterol metabolic process, lipid catabolic process, 63 62 134 162 136 237 182 91 164 ENSG00000107807 chr10 101130505 101137789 + TLX1 protein_coding This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]. 3195 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048513, GO:0045944, GO:0006357, animal organ development, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 3 ENSG00000107815 chr10 100987367 100994401 + TWNK protein_coding This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]. 56652 GO:0042645, GO:0005759, GO:0005739, mitochondrial nucleoid, mitochondrial matrix, mitochondrion, GO:0043139, GO:0042802, GO:0005524, GO:0003697, GO:0003697, GO:0003678, GO:0002020, 5'-3' DNA helicase activity, identical protein binding, ATP binding, single-stranded DNA binding, single-stranded DNA binding, DNA helicase activity, protease binding, GO:0071333, GO:0034214, GO:0007005, GO:0006390, GO:0006268, GO:0006264, GO:0006264, GO:0006264, cellular response to glucose stimulus, protein hexamerization, mitochondrion organization, mitochondrial transcription, DNA unwinding involved in DNA replication, mitochondrial DNA replication, mitochondrial DNA replication, mitochondrial DNA replication, 22 14 16 25 6 26 8 6 11 ENSG00000107816 chr10 100996618 101007836 + LZTS2 protein_coding The protein encoded by this gene belongs to the leucine zipper tumor suppressor family of proteins, which function in transcription regulation and cell cycle control. This family member can repress beta-catenin-mediated transcriptional activation and is a negative regulator of the Wnt signaling pathway. It negatively regulates microtubule severing at centrosomes, and is necessary for central spindle formation and cytokinesis completion. It is implicated in cancer, where it may inhibit cell proliferation and decrease susceptibility to tumor development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 84445 GO:0031982, GO:0030496, GO:0005886, GO:0005874, GO:0005829, GO:0005813, vesicle, midbody, plasma membrane, microtubule, cytosol, centrosome, GO:0005515, protein binding, GO:1900181, GO:0090090, GO:0072197, GO:0060682, GO:0051255, GO:0051168, GO:0051013, GO:0016055, GO:0008285, GO:0000281, negative regulation of protein localization to nucleus, negative regulation of canonical Wnt signaling pathway, ureter morphogenesis, primary ureteric bud growth, spindle midzone assembly, nuclear export, microtubule severing, Wnt signaling pathway, negative regulation of cell population proliferation, mitotic cytokinesis, 15 9 14 41 14 41 8 18 35 ENSG00000107819 chr10 101031234 101041244 + SFXN3 protein_coding 81855 GO:0031305, GO:0005739, integral component of mitochondrial inner membrane, mitochondrion, GO:0022889, GO:0022889, GO:0022857, serine transmembrane transporter activity, serine transmembrane transporter activity, transmembrane transporter activity, GO:1990542, GO:1990542, GO:0140300, GO:0140300, GO:0006730, mitochondrial transmembrane transport, mitochondrial transmembrane transport, serine import into mitochondrion, serine import into mitochondrion, one-carbon metabolic process, 181 134 357 382 199 478 392 138 330 ENSG00000107821 chr10 101061841 101068131 + KAZALD1 protein_coding This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 81621 GO:0005614, interstitial matrix, GO:0005520, GO:0005515, insulin-like growth factor binding, protein binding, GO:0030198, GO:0030154, GO:0009966, GO:0007275, GO:0001558, GO:0001503, extracellular matrix organization, cell differentiation, regulation of signal transduction, multicellular organism development, regulation of cell growth, ossification, 0 0 1 0 0 0 0 0 0 ENSG00000107829 chr10 101610664 101695295 - FBXW4 protein_coding This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]. 6468 GO:0019005, GO:0005829, GO:0000151, SCF ubiquitin ligase complex, cytosol, ubiquitin ligase complex, GO:0005515, protein binding, GO:0051216, GO:0043687, GO:0042733, GO:0031146, GO:0030326, GO:0016055, GO:0006511, GO:0002053, GO:0000209, cartilage development, post-translational protein modification, embryonic digit morphogenesis, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, embryonic limb morphogenesis, Wnt signaling pathway, ubiquitin-dependent protein catabolic process, positive regulation of mesenchymal cell proliferation, protein polyubiquitination, 42 49 74 79 57 109 88 51 102 ENSG00000107831 chr10 101770130 101780369 - FGF8 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]. 2253 GO:0009897, GO:0005737, GO:0005615, GO:0005576, external side of plasma membrane, cytoplasm, extracellular space, extracellular region, GO:0042056, GO:0008083, GO:0005111, GO:0005105, GO:0005104, chemoattractant activity, growth factor activity, type 2 fibroblast growth factor receptor binding, type 1 fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:0120223, GO:0090134, GO:0071542, GO:0071542, GO:0070374, GO:0060563, GO:0060445, GO:0060425, GO:0060348, GO:0060129, GO:0060128, GO:0060037, GO:0055026, GO:0051897, GO:0051781, GO:0050918, GO:0050731, GO:0048853, GO:0048702, GO:0046622, GO:0045840, GO:0045745, GO:0045597, GO:0045165, GO:0043524, GO:0042493, GO:0042487, GO:0042476, GO:0035909, GO:0035116, GO:0035108, GO:0035050, GO:0033563, GO:0030917, GO:0030916, GO:0030878, GO:0030539, GO:0030334, GO:0030182, GO:0030154, GO:0023019, GO:0021884, GO:0021846, GO:0021798, GO:0021544, GO:0021543, GO:0014070, GO:0010628, GO:0010628, GO:0009953, GO:0009887, GO:0009653, GO:0008543, GO:0008543, GO:0008543, GO:0008406, GO:0008284, GO:0008078, GO:0008045, GO:0007369, GO:0006979, GO:0003198, GO:0003148, GO:0003007, GO:0001974, GO:0001947, GO:0001934, GO:0001839, GO:0001823, GO:0001759, GO:0001658, GO:0001656, GO:0001569, GO:0000165, larynx morphogenesis, cell migration involved in mesendoderm migration, dopaminergic neuron differentiation, dopaminergic neuron differentiation, positive regulation of ERK1 and ERK2 cascade, neuroepithelial cell differentiation, branching involved in salivary gland morphogenesis, lung morphogenesis, bone development, thyroid-stimulating hormone-secreting cell differentiation, corticotropin hormone secreting cell differentiation, pharyngeal system development, negative regulation of cardiac muscle tissue development, positive regulation of protein kinase B signaling, positive regulation of cell division, positive chemotaxis, positive regulation of peptidyl-tyrosine phosphorylation, forebrain morphogenesis, embryonic neurocranium morphogenesis, positive regulation of organ growth, positive regulation of mitotic nuclear division, positive regulation of G protein-coupled receptor signaling pathway, positive regulation of cell differentiation, cell fate commitment, negative regulation of neuron apoptotic process, response to drug, regulation of odontogenesis of dentin-containing tooth, odontogenesis, aorta morphogenesis, embryonic hindlimb morphogenesis, limb morphogenesis, embryonic heart tube development, dorsal/ventral axon guidance, midbrain-hindbrain boundary development, otic vesicle formation, thyroid gland development, male genitalia development, regulation of cell migration, neuron differentiation, cell differentiation, signal transduction involved in regulation of gene expression, forebrain neuron development, cell proliferation in forebrain, forebrain dorsal/ventral pattern formation, subpallium development, pallium development, response to organic cyclic compound, positive regulation of gene expression, positive regulation of gene expression, dorsal/ventral pattern formation, animal organ morphogenesis, anatomical structure morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, gonad development, positive regulation of cell population proliferation, mesodermal cell migration, motor neuron axon guidance, gastrulation, response to oxidative stress, epithelial to mesenchymal transition involved in endocardial cushion formation, outflow tract septum morphogenesis, heart morphogenesis, blood vessel remodeling, heart looping, positive regulation of protein phosphorylation, neural plate morphogenesis, mesonephros development, organ induction, branching involved in ureteric bud morphogenesis, metanephros development, branching involved in blood vessel morphogenesis, MAPK cascade, 0 1 1 0 5 4 1 1 8 ENSG00000107833 chr10 101781325 101783413 - NPM3 protein_coding The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008]. 10360 GO:0015629, GO:0005829, GO:0005737, GO:0005730, GO:0005730, GO:0005654, actin cytoskeleton, cytosol, cytoplasm, nucleolus, nucleolus, nucleoplasm, GO:0042393, GO:0005515, GO:0003723, GO:0003723, GO:0003682, histone binding, protein binding, RNA binding, RNA binding, chromatin binding, GO:0009303, GO:0006364, GO:0006338, rRNA transcription, rRNA processing, chromatin remodeling, 2 3 14 29 2 10 2 3 7 ENSG00000107854 chr10 91798312 91865276 + TNKS2 protein_coding 80351 GO:0048471, GO:0005829, GO:0005737, GO:0005737, GO:0005635, GO:0005634, GO:0005634, GO:0000781, GO:0000242, GO:0000139, perinuclear region of cytoplasm, cytosol, cytoplasm, cytoplasm, nuclear envelope, nucleus, nucleus, chromosome, telomeric region, pericentriolar material, Golgi membrane, GO:1990404, GO:0046872, GO:0019899, GO:0005515, GO:0003950, GO:0003950, GO:0003950, protein ADP-ribosylase activity, metal ion binding, enzyme binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, GO:1904357, GO:1904355, GO:1904355, GO:1904355, GO:0090263, GO:0090263, GO:0090263, GO:0070213, GO:0070212, GO:0070198, GO:0070198, GO:0040014, GO:0035264, GO:0032212, GO:0016055, GO:0006471, GO:0006471, GO:0000209, negative regulation of telomere maintenance via telomere lengthening, positive regulation of telomere capping, positive regulation of telomere capping, positive regulation of telomere capping, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, protein auto-ADP-ribosylation, protein poly-ADP-ribosylation, protein localization to chromosome, telomeric region, protein localization to chromosome, telomeric region, regulation of multicellular organism growth, multicellular organism growth, positive regulation of telomere maintenance via telomerase, Wnt signaling pathway, protein ADP-ribosylation, protein ADP-ribosylation, protein polyubiquitination, 1135 997 1514 859 998 1278 852 788 953 ENSG00000107859 chr10 102230186 102241474 - PITX3 protein_coding This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]. 5309 GO:0043025, GO:0005634, GO:0005634, GO:0000785, neuronal cell body, nucleus, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990792, GO:1904935, GO:1904313, GO:0071542, GO:0071542, GO:0045893, GO:0043525, GO:0043278, GO:0042220, GO:0035902, GO:0030901, GO:0014014, GO:0009887, GO:0009653, GO:0007568, GO:0006357, GO:0006357, GO:0006355, GO:0002089, GO:0002088, cellular response to glial cell derived neurotrophic factor, positive regulation of cell proliferation in midbrain, response to methamphetamine hydrochloride, dopaminergic neuron differentiation, dopaminergic neuron differentiation, positive regulation of transcription, DNA-templated, positive regulation of neuron apoptotic process, response to morphine, response to cocaine, response to immobilization stress, midbrain development, negative regulation of gliogenesis, animal organ morphogenesis, anatomical structure morphogenesis, aging, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, lens morphogenesis in camera-type eye, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000107862 chr10 102245532 102382899 + GBF1 protein_coding This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]. 8729 GO:0031252, GO:0016020, GO:0005829, GO:0005811, GO:0005802, GO:0005801, GO:0005795, GO:0005794, GO:0005793, GO:0005788, GO:0005777, GO:0005739, GO:0000139, cell leading edge, membrane, cytosol, lipid droplet, trans-Golgi network, cis-Golgi network, Golgi stack, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum lumen, peroxisome, mitochondrion, Golgi membrane, GO:0080025, GO:0005547, GO:0005515, GO:0005085, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, guanyl-nucleotide exchange factor activity, GO:2000008, GO:1903420, GO:1903409, GO:0098586, GO:0097111, GO:0090166, GO:0070973, GO:0061162, GO:0048205, GO:0042147, GO:0034067, GO:0032012, GO:0030593, GO:0016032, GO:0015031, GO:0007346, GO:0007030, GO:0006895, GO:0006892, GO:0006890, GO:0006890, GO:0006888, GO:0002263, regulation of protein localization to cell surface, protein localization to endoplasmic reticulum tubular network, reactive oxygen species biosynthetic process, cellular response to virus, endoplasmic reticulum-Golgi intermediate compartment organization, Golgi disassembly, protein localization to endoplasmic reticulum exit site, establishment of monopolar cell polarity, COPI coating of Golgi vesicle, retrograde transport, endosome to Golgi, protein localization to Golgi apparatus, regulation of ARF protein signal transduction, neutrophil chemotaxis, viral process, protein transport, regulation of mitotic cell cycle, Golgi organization, Golgi to endosome transport, post-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, cell activation involved in immune response, 746 810 907 655 742 633 667 507 648 ENSG00000107863 chr10 24583609 24723668 - ARHGAP21 protein_coding ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]. 57584 GO:0030659, GO:0030054, GO:0015629, GO:0005886, GO:0005829, GO:0005794, GO:0000139, cytoplasmic vesicle membrane, cell junction, actin cytoskeleton, plasma membrane, cytosol, Golgi apparatus, Golgi membrane, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0072384, GO:0051684, GO:0051683, GO:0051645, GO:0051056, GO:0043547, GO:0007165, GO:0007030, organelle transport along microtubule, maintenance of Golgi location, establishment of Golgi localization, Golgi localization, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, Golgi organization, 48 59 93 101 61 74 71 21 46 ENSG00000107864 chr10 92046692 92291087 - CPEB3 protein_coding 22849 GO:1990124, GO:0097440, GO:0045202, GO:0045202, GO:0043005, GO:0043005, GO:0043005, GO:0030425, GO:0030014, GO:0014069, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005634, messenger ribonucleoprotein complex, apical dendrite, synapse, synapse, neuron projection, neuron projection, neuron projection, dendrite, CCR4-NOT complex, postsynaptic density, cytoplasm, cytoplasm, cytoplasm, nucleus, nucleus, GO:0043022, GO:0035925, GO:0035613, GO:0008135, GO:0008135, GO:0008135, GO:0005515, GO:0003730, GO:0003730, GO:0003730, GO:0003723, GO:0003723, GO:0000900, GO:0000900, ribosome binding, mRNA 3'-UTR AU-rich region binding, RNA stem-loop binding, translation factor activity, RNA binding, translation factor activity, RNA binding, translation factor activity, RNA binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, RNA binding, RNA binding, translation repressor activity, mRNA regulatory element binding, translation repressor activity, mRNA regulatory element binding, GO:2000766, GO:1900365, GO:1900248, GO:1900153, GO:0071230, GO:0071230, GO:0061158, GO:0060999, GO:0060998, GO:0060213, GO:0048167, GO:0045727, GO:0017148, GO:0007616, GO:0006412, GO:0000122, negative regulation of cytoplasmic translation, positive regulation of mRNA polyadenylation, negative regulation of cytoplasmic translational elongation, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, cellular response to amino acid stimulus, cellular response to amino acid stimulus, 3'-UTR-mediated mRNA destabilization, positive regulation of dendritic spine development, regulation of dendritic spine development, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, regulation of synaptic plasticity, positive regulation of translation, negative regulation of translation, long-term memory, translation, negative regulation of transcription by RNA polymerase II, 74 87 64 61 74 96 58 58 47 ENSG00000107872 chr10 102419189 102423136 + FBXL15 protein_coding 79176 GO:0019005, GO:0019005, GO:0005829, GO:0005737, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytoplasm, GO:0005515, protein binding, GO:0043687, GO:0031146, GO:0031146, GO:0030513, GO:0030282, GO:0016567, GO:0009953, GO:0000209, GO:0000086, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, positive regulation of BMP signaling pathway, bone mineralization, protein ubiquitination, dorsal/ventral pattern formation, protein polyubiquitination, G2/M transition of mitotic cell cycle, 24 24 65 21 47 45 37 35 28 ENSG00000107874 chr10 102423245 102432661 - CUEDC2 protein_coding 79004 GO:0031965, GO:0005829, GO:0005654, nuclear membrane, cytosol, nucleoplasm, GO:0005515, protein binding, GO:1900016, GO:0010936, negative regulation of cytokine production involved in inflammatory response, negative regulation of macrophage cytokine production, 85 83 63 51 81 86 67 72 69 ENSG00000107882 chr10 102503987 102633535 + SUFU protein_coding The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 51684 GO:0097546, GO:0097542, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, ciliary base, ciliary tip, cytosol, cytoplasm, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0019901, GO:0008134, GO:0008134, GO:0005515, GO:0003714, protein kinase binding, transcription factor binding, transcription factor binding, protein binding, transcription corepressor activity, GO:0045879, GO:0045879, GO:0045668, GO:0043433, GO:0042994, GO:0042308, GO:0007275, GO:0007165, GO:0006508, GO:0006355, GO:0001501, GO:0000122, negative regulation of smoothened signaling pathway, negative regulation of smoothened signaling pathway, negative regulation of osteoblast differentiation, negative regulation of DNA-binding transcription factor activity, cytoplasmic sequestering of transcription factor, negative regulation of protein import into nucleus, multicellular organism development, signal transduction, proteolysis, regulation of transcription, DNA-templated, skeletal system development, negative regulation of transcription by RNA polymerase II, 70 93 85 94 110 108 63 91 83 ENSG00000107890 chr10 26991914 27100498 - ANKRD26 protein_coding This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 22852 GO:0005813, centrosome, GO:0005515, protein binding, GO:0045599, negative regulation of fat cell differentiation, 24 21 28 62 18 38 44 18 28 ENSG00000107897 chr10 27195214 27242130 - ACBD5 protein_coding This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 91452 GO:0016021, GO:0016020, GO:0005778, GO:0005777, GO:0005654, integral component of membrane, membrane, peroxisomal membrane, peroxisome, nucleoplasm, GO:0008289, GO:0003674, GO:0000062, lipid binding, molecular_function, fatty-acyl-CoA binding, GO:0035973, GO:0030242, GO:0016236, GO:0009062, aggrephagy, autophagy of peroxisome, macroautophagy, fatty acid catabolic process, 151 170 150 134 230 235 171 199 191 ENSG00000107902 chr10 124461834 124617888 + LHPP protein_coding 64077 GO:0016607, GO:0005829, GO:0005829, GO:0005829, GO:0005634, nuclear speck, cytosol, cytosol, cytosol, nucleus, GO:0101006, GO:0101006, GO:0042803, GO:0016791, GO:0005515, GO:0004427, GO:0004427, GO:0000287, protein histidine phosphatase activity, protein histidine phosphatase activity, protein homodimerization activity, phosphatase activity, protein binding, inorganic diphosphatase activity, inorganic diphosphatase activity, magnesium ion binding, GO:0016311, GO:0009168, GO:0006796, GO:0006470, GO:0006470, dephosphorylation, purine ribonucleoside monophosphate biosynthetic process, phosphate-containing compound metabolic process, protein dephosphorylation, protein dephosphorylation, 48 73 65 76 105 138 68 112 86 ENSG00000107929 chr10 806914 931705 - LARP4B protein_coding This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012]. 23185 GO:0042788, GO:0016020, GO:0010494, GO:0005829, GO:0005730, polysomal ribosome, membrane, cytoplasmic stress granule, cytosol, nucleolus, GO:0005515, GO:0003730, GO:0003723, protein binding, mRNA 3'-UTR binding, RNA binding, GO:1905870, GO:0045727, positive regulation of 3'-UTR-mediated mRNA stabilization, positive regulation of translation, 944 1102 1127 655 1095 948 719 777 714 ENSG00000107937 chr10 988019 1019936 + GTPBP4 protein_coding GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]. 23560 GO:0048471, GO:0031965, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, nuclear membrane, membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005525, GO:0005515, GO:0003924, GO:0003723, GTP binding, protein binding, GTPase activity, RNA binding, GO:0050821, GO:0033342, GO:0031397, GO:0030336, GO:0022408, GO:0008285, GO:0008156, GO:0001649, GO:0000463, GO:0000079, protein stabilization, negative regulation of collagen binding, negative regulation of protein ubiquitination, negative regulation of cell migration, negative regulation of cell-cell adhesion, negative regulation of cell population proliferation, negative regulation of DNA replication, osteoblast differentiation, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), regulation of cyclin-dependent protein serine/threonine kinase activity, 72 60 126 134 88 163 111 60 73 ENSG00000107938 chr10 125719515 125764143 + EDRF1 protein_coding This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 26098 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0005515, protein binding, GO:0045893, GO:0045893, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, 209 234 232 316 362 311 316 244 241 ENSG00000107949 chr10 125823546 125853695 + BCCIP protein_coding This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 56647 GO:0097431, GO:0019908, GO:0005829, GO:0005814, GO:0005813, GO:0005654, GO:0005634, GO:0005634, mitotic spindle pole, nuclear cyclin-dependent protein kinase holoenzyme complex, cytosol, centriole, centrosome, nucleoplasm, nucleus, nucleus, GO:0019207, GO:0005515, GO:0003723, kinase regulator activity, protein binding, RNA binding, GO:0090307, GO:0061101, GO:0034453, GO:0007052, GO:0006281, GO:0000226, GO:0000079, mitotic spindle assembly, neuroendocrine cell differentiation, microtubule anchoring, mitotic spindle organization, DNA repair, microtubule cytoskeleton organization, regulation of cyclin-dependent protein serine/threonine kinase activity, 38 28 47 76 54 52 49 30 62 ENSG00000107951 chr10 30309801 30374448 - MTPAP protein_coding The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]. 55149 GO:0043231, GO:0005739, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, mitochondrion, mitochondrion, cytoplasm, GO:0042803, GO:0042802, GO:0030145, GO:0016779, GO:0005524, GO:0005515, GO:0004652, GO:0004652, GO:0003723, GO:0002134, GO:0000287, protein homodimerization activity, identical protein binding, manganese ion binding, nucleotidyltransferase activity, ATP binding, protein binding, polynucleotide adenylyltransferase activity, polynucleotide adenylyltransferase activity, RNA binding, UTP binding, magnesium ion binding, GO:0071044, GO:0006397, GO:0006378, GO:0006378, histone mRNA catabolic process, mRNA processing, mRNA polyadenylation, mRNA polyadenylation, 18 22 25 23 16 31 36 18 31 ENSG00000107954 chr10 103493979 103592552 + NEURL1 protein_coding 9148 GO:0097440, GO:0048471, GO:0043204, GO:0043197, GO:0014069, GO:0014069, GO:0005886, GO:0005886, apical dendrite, perinuclear region of cytoplasm, perikaryon, dendritic spine, postsynaptic density, postsynaptic density, plasma membrane, plasma membrane, GO:0061630, GO:0046872, GO:0045183, GO:0004842, ubiquitin protein ligase activity, metal ion binding, translation factor activity, non-nucleic acid binding, ubiquitin-protein transferase activity, GO:0090129, GO:0071230, GO:0060999, GO:0051491, GO:0048170, GO:0045746, GO:0045746, GO:0045741, GO:0043065, GO:0008285, GO:0007595, GO:0007399, GO:0007288, GO:0007219, GO:0006513, GO:0006417, positive regulation of synapse maturation, cellular response to amino acid stimulus, positive regulation of dendritic spine development, positive regulation of filopodium assembly, positive regulation of long-term neuronal synaptic plasticity, negative regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of apoptotic process, negative regulation of cell population proliferation, lactation, nervous system development, sperm axoneme assembly, Notch signaling pathway, protein monoubiquitination, regulation of translation, 2 0 5 3 0 10 8 11 1 ENSG00000107957 chr10 103594027 103855543 - SH3PXD2A protein_coding 9644 GO:0042995, GO:0030054, GO:0005829, GO:0005737, GO:0002102, cell projection, cell junction, cytosol, cytoplasm, podosome, GO:0070273, GO:0043325, GO:0032266, GO:0016176, GO:0010314, GO:0005546, GO:0005515, GO:0002020, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, superoxide-generating NADPH oxidase activator activity, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, protease binding, GO:0072675, GO:0043085, GO:0030198, GO:0006801, GO:0006801, GO:0006801, osteoclast fusion, positive regulation of catalytic activity, extracellular matrix organization, superoxide metabolic process, superoxide metabolic process, superoxide metabolic process, 36 33 71 60 41 43 52 15 45 ENSG00000107959 chr10 3137728 3172841 - PITRM1 protein_coding The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]. 10531 GO:0005759, GO:0005759, GO:0005759, GO:0005739, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0008270, GO:0008237, GO:0008047, GO:0004222, GO:0004222, GO:0004222, zinc ion binding, metallopeptidase activity, enzyme activator activity, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0043085, GO:0016485, GO:0006626, GO:0006508, GO:0006508, positive regulation of catalytic activity, protein processing, protein targeting to mitochondrion, proteolysis, proteolysis, 73 75 126 158 70 156 160 49 121 ENSG00000107960 chr10 103882542 103918205 - STN1 protein_coding OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]. 79991 GO:1990879, GO:0045111, GO:0043231, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0001650, GO:0000781, GO:0000781, CST complex, intermediate filament cytoskeleton, intracellular membrane-bounded organelle, nucleoplasm, nucleus, nucleus, nucleus, fibrillar center, chromosome, telomeric region, chromosome, telomeric region, GO:0043047, GO:0042162, GO:0005515, GO:0003697, GO:0003697, single-stranded telomeric DNA binding, telomeric DNA binding, protein binding, single-stranded DNA binding, single-stranded DNA binding, GO:0045740, GO:0032211, GO:0016233, GO:0010833, GO:0000723, positive regulation of DNA replication, negative regulation of telomere maintenance via telomerase, telomere capping, telomere maintenance via telomere lengthening, telomere maintenance, 130 124 159 99 130 163 140 112 114 ENSG00000107968 chr10 30433937 30461833 + MAP3K8 protein_coding This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]. 1326 GO:0005829, GO:0005829, cytosol, cytosol, GO:0005524, GO:0005515, GO:0004709, GO:0004674, GO:0000287, ATP binding, protein binding, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0070498, GO:0051403, GO:0031295, GO:0007049, GO:0006468, GO:0000186, interleukin-1-mediated signaling pathway, stress-activated MAPK cascade, T cell costimulation, cell cycle, protein phosphorylation, activation of MAPKK activity, 559 717 1949 480 741 990 543 528 867 ENSG00000107984 chr10 52314296 52318042 + DKK1 protein_coding This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017]. 22943 GO:0031901, GO:0005886, GO:0005615, GO:0005615, GO:0005576, early endosome membrane, plasma membrane, extracellular space, extracellular space, extracellular region, GO:0050750, GO:0048019, GO:0048019, GO:0039706, GO:0039706, GO:0039706, GO:0008083, GO:0005515, low-density lipoprotein particle receptor binding, receptor antagonist activity, receptor antagonist activity, co-receptor binding, co-receptor binding, co-receptor binding, growth factor activity, protein binding, GO:2000726, GO:2000272, GO:2000096, GO:1905607, GO:1904958, GO:1904723, GO:1904723, GO:1904723, GO:1904338, GO:1902949, GO:1901296, GO:1901216, GO:0098883, GO:0090647, GO:0090244, GO:0090090, GO:0090090, GO:0090090, GO:0090090, GO:0090090, GO:0090082, GO:0061743, GO:0060394, GO:0060325, GO:0060173, GO:0051966, GO:0045813, GO:0043507, GO:0043066, GO:0042663, GO:0042662, GO:0033137, GO:0032526, GO:0032091, GO:0030900, GO:0030514, GO:0030326, GO:0030279, GO:0030178, GO:0010977, GO:0010942, GO:0010628, GO:0010628, GO:0007611, GO:0002090, GO:0001942, GO:0001707, GO:0001706, GO:0000904, GO:0000122, GO:0000122, negative regulation of cardiac muscle cell differentiation, negative regulation of signaling receptor activity, positive regulation of Wnt signaling pathway, planar cell polarity pathway, negative regulation of presynapse assembly, positive regulation of midbrain dopaminergic neuron differentiation, negative regulation of Wnt-Frizzled-LRP5/6 complex assembly, negative regulation of Wnt-Frizzled-LRP5/6 complex assembly, negative regulation of Wnt-Frizzled-LRP5/6 complex assembly, regulation of dopaminergic neuron differentiation, positive regulation of tau-protein kinase activity, negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment, positive regulation of neuron death, synapse pruning, modulation of age-related behavioral decline, Wnt signaling pathway involved in somitogenesis, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway, motor learning, negative regulation of pathway-restricted SMAD protein phosphorylation, face morphogenesis, limb development, regulation of synaptic transmission, glutamatergic, positive regulation of Wnt signaling pathway, calcium modulating pathway, positive regulation of JUN kinase activity, negative regulation of apoptotic process, regulation of endodermal cell fate specification, negative regulation of mesodermal cell fate specification, negative regulation of peptidyl-serine phosphorylation, response to retinoic acid, negative regulation of protein binding, forebrain development, negative regulation of BMP signaling pathway, embryonic limb morphogenesis, negative regulation of ossification, negative regulation of Wnt signaling pathway, negative regulation of neuron projection development, positive regulation of cell death, positive regulation of gene expression, positive regulation of gene expression, learning or memory, regulation of receptor internalization, hair follicle development, mesoderm formation, endoderm formation, cell morphogenesis involved in differentiation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000108001 chr10 129835283 129963841 - EBF3 protein_coding This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]. 253738 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:0046983, GO:0046872, GO:0000981, GO:0000981, GO:0000978, GO:0000978, protein dimerization activity, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0007275, GO:0006357, positive regulation of transcription, DNA-templated, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000108010 chr10 130136399 130184521 + GLRX3 protein_coding This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]. 10539 GO:0030425, GO:0030018, GO:0005938, GO:0005829, GO:0005634, dendrite, Z disc, cell cortex, cytosol, nucleus, GO:0051536, GO:0046872, GO:0042802, GO:0015035, GO:0009055, GO:0005515, GO:0005080, GO:0003723, iron-sulfur cluster binding, metal ion binding, identical protein binding, protein disulfide oxidoreductase activity, electron transfer activity, protein binding, protein kinase C binding, RNA binding, GO:0097428, GO:0044571, GO:0022900, GO:0010614, GO:0006879, GO:0002026, protein maturation by iron-sulfur cluster transfer, [2Fe-2S] cluster assembly, electron transport chain, negative regulation of cardiac muscle hypertrophy, cellular iron ion homeostasis, regulation of the force of heart contraction, 42 51 60 82 48 102 65 60 47 ENSG00000108018 chr10 106573663 107164534 - SORCS1 protein_coding This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 114815 GO:0016021, GO:0016020, GO:0005794, integral component of membrane, membrane, Golgi apparatus, GO:0008188, GO:0005515, neuropeptide receptor activity, protein binding, GO:0007218, GO:0006892, neuropeptide signaling pathway, post-Golgi vesicle-mediated transport, 0 0 0 1 0 0 0 0 0 ENSG00000108021 chr10 5684838 5763740 + FAM208B protein_coding 54906 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0005515, protein binding, 400 328 444 402 329 381 425 228 325 ENSG00000108039 chr10 109864766 109923553 - XPNPEP1 protein_coding This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]. 7511 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0070006, GO:0042803, GO:0030145, GO:0004177, metalloaminopeptidase activity, protein homodimerization activity, manganese ion binding, aminopeptidase activity, GO:0010815, GO:0006508, bradykinin catabolic process, proteolysis, 44 50 103 105 57 168 109 30 85 ENSG00000108055 chr10 110567691 110604636 + SMC3 protein_coding This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]. 9126 GO:0097431, GO:0034991, GO:0030893, GO:0016363, GO:0008278, GO:0008278, GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0000800, GO:0000785, GO:0000775, mitotic spindle pole, nuclear meiotic cohesin complex, meiotic cohesin complex, nuclear matrix, cohesin complex, cohesin complex, cytosol, chromosome, nucleoplasm, nucleoplasm, lateral element, chromatin, chromosome, centromeric region, GO:0070840, GO:0048487, GO:0046982, GO:0036033, GO:0005524, GO:0005515, GO:0003777, GO:0003682, dynein complex binding, beta-tubulin binding, protein heterodimerization activity, mediator complex binding, ATP binding, protein binding, microtubule motor activity, chromatin binding, GO:0090307, GO:0051321, GO:0051301, GO:0019827, GO:0007062, GO:0007062, GO:0006281, GO:0006275, GO:0000278, mitotic spindle assembly, meiotic cell cycle, cell division, stem cell population maintenance, sister chromatid cohesion, sister chromatid cohesion, DNA repair, regulation of DNA replication, mitotic cell cycle, 324 273 347 226 238 246 256 189 196 ENSG00000108061 chr10 110919547 111013667 + SHOC2 protein_coding This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]. 8036 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0000164, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, protein phosphatase type 1 complex, GO:0019903, GO:0019888, GO:0008157, GO:0008157, GO:0005515, protein phosphatase binding, protein phosphatase regulator activity, protein phosphatase 1 binding, protein phosphatase 1 binding, protein binding, GO:0046579, GO:0046579, GO:0043666, GO:0008543, GO:0007265, GO:0007165, positive regulation of Ras protein signal transduction, positive regulation of Ras protein signal transduction, regulation of phosphoprotein phosphatase activity, fibroblast growth factor receptor signaling pathway, Ras protein signal transduction, signal transduction, 2735 2096 3964 1127 1716 1518 1231 1401 1247 ENSG00000108064 chr10 58385022 58399221 + TFAM protein_coding This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 7019 GO:0042645, GO:0032991, GO:0005829, GO:0005759, GO:0005759, GO:0005739, GO:0005634, mitochondrial nucleoid, protein-containing complex, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, nucleus, GO:0043565, GO:0034246, GO:0031072, GO:0008301, GO:0005515, GO:0003723, GO:0003700, GO:0003682, GO:0001223, GO:0001018, GO:0000976, sequence-specific DNA binding, mitochondrial transcription factor activity, heat shock protein binding, DNA binding, bending, protein binding, RNA binding, DNA-binding transcription factor activity, chromatin binding, transcription coactivator binding, mitochondrial promoter sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045893, GO:0033108, GO:0007005, GO:0006391, GO:0006391, GO:0006391, GO:0006390, positive regulation of transcription, DNA-templated, mitochondrial respiratory chain complex assembly, mitochondrion organization, transcription initiation from mitochondrial promoter, transcription initiation from mitochondrial promoter, transcription initiation from mitochondrial promoter, mitochondrial transcription, 154 248 179 173 179 132 168 134 116 ENSG00000108091 chr10 59788763 59906656 - CCDC6 protein_coding This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]. 8030 GO:0005856, GO:0005829, cytoskeleton, cytosol, GO:0042802, GO:0017124, GO:0005515, GO:0005200, identical protein binding, SH3 domain binding, protein binding, structural constituent of cytoskeleton, GO:0008150, GO:0007010, biological_process, cytoskeleton organization, 14 12 49 78 30 109 50 36 40 ENSG00000108094 chr10 35008551 35090642 - CUL2 protein_coding 8453 GO:0031462, GO:0031462, GO:0031461, GO:0019005, GO:0005829, GO:0005730, GO:0005654, GO:0005654, Cul2-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, nucleolus, nucleoplasm, nucleoplasm, GO:0031625, GO:0031625, GO:0005515, GO:0004842, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, ubiquitin-protein transferase activity, GO:0097193, GO:0061418, GO:0043687, GO:0031146, GO:0016567, GO:0016567, GO:0016567, GO:0016032, GO:0000082, intrinsic apoptotic signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, protein ubiquitination, viral process, G1/S transition of mitotic cell cycle, 207 211 248 154 192 173 196 125 134 ENSG00000108100 chr10 35247025 35572669 + CCNY protein_coding Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009]. 219771 GO:0005886, GO:0005886, GO:0005737, GO:0005634, GO:0000308, plasma membrane, plasma membrane, cytoplasm, nucleus, cytoplasmic cyclin-dependent protein kinase holoenzyme complex, GO:0019901, GO:0016538, GO:0016538, GO:0005515, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0060828, GO:0051301, GO:0045737, GO:0045737, GO:0016055, GO:0000086, regulation of canonical Wnt signaling pathway, cell division, positive regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of cyclin-dependent protein serine/threonine kinase activity, Wnt signaling pathway, G2/M transition of mitotic cell cycle, 2374 2368 2414 720 1438 984 924 1464 979 ENSG00000108106 chr19 55399745 55407777 - UBE2S protein_coding This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq, Jul 2008]. 27338 GO:0005829, GO:0005680, GO:0005654, GO:0005634, cytosol, anaphase-promoting complex, nucleoplasm, nucleus, GO:0061631, GO:0061631, GO:0010997, GO:0005524, GO:0005515, GO:0004842, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, anaphase-promoting complex binding, ATP binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:1904668, GO:0085020, GO:0070979, GO:0070534, GO:0051301, GO:0044314, GO:0035519, GO:0031145, GO:0016567, GO:0010994, GO:0010458, GO:0010458, GO:0006511, GO:0006464, GO:0000209, positive regulation of ubiquitin protein ligase activity, protein K6-linked ubiquitination, protein K11-linked ubiquitination, protein K63-linked ubiquitination, cell division, protein K27-linked ubiquitination, protein K29-linked ubiquitination, anaphase-promoting complex-dependent catabolic process, protein ubiquitination, free ubiquitin chain polymerization, exit from mitosis, exit from mitosis, ubiquitin-dependent protein catabolic process, cellular protein modification process, protein polyubiquitination, 451 597 441 3321 8205 4110 1836 3191 2492 ENSG00000108107 chr19 55385345 55403250 + RPL28 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]. 6158 GO:0070062, GO:0044297, GO:0036464, GO:0030425, GO:0022625, GO:0022625, GO:0016020, GO:0005829, extracellular exosome, cell body, cytoplasmic ribonucleoprotein granule, dendrite, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1377 1206 1799 3507 3973 3963 2444 2108 2731 ENSG00000108175 chr10 79069035 79316528 + ZMIZ1 protein_coding This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]. 57178 GO:0043231, GO:0005737, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0046332, GO:0030374, GO:0008270, GO:0003713, SMAD binding, nuclear receptor coactivator activity, zinc ion binding, transcription coactivator activity, GO:1903508, GO:0060395, GO:0048844, GO:0048589, GO:0048146, GO:0048096, GO:0045944, GO:0045747, GO:0045582, GO:0033233, GO:0030521, GO:0021852, GO:0007569, GO:0007296, GO:0007179, GO:0006357, GO:0003007, GO:0001701, GO:0001570, positive regulation of nucleic acid-templated transcription, SMAD protein signal transduction, artery morphogenesis, developmental growth, positive regulation of fibroblast proliferation, chromatin-mediated maintenance of transcription, positive regulation of transcription by RNA polymerase II, positive regulation of Notch signaling pathway, positive regulation of T cell differentiation, regulation of protein sumoylation, androgen receptor signaling pathway, pyramidal neuron migration, cell aging, vitellogenesis, transforming growth factor beta receptor signaling pathway, regulation of transcription by RNA polymerase II, heart morphogenesis, in utero embryonic development, vasculogenesis, 4210 4296 5280 2505 3012 3582 2870 2464 3104 ENSG00000108176 chr10 67796665 67838166 - DNAJC12 protein_coding This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 56521 GO:0005737, cytoplasm, GO:0005515, protein binding, 0 0 0 3 0 0 0 0 0 ENSG00000108179 chr10 79347469 79355337 + PPIF protein_coding The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]. 10105 GO:0043231, GO:0016020, GO:0005759, GO:0005757, GO:0005753, GO:0005739, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, membrane, mitochondrial matrix, mitochondrial permeability transition pore complex, mitochondrial proton-transporting ATP synthase complex, mitochondrion, mitochondrion, cytoplasm, GO:0016018, GO:0016018, GO:0005515, GO:0003755, GO:0003755, cyclosporin A binding, cyclosporin A binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:2001243, GO:2000276, GO:1902686, GO:1902445, GO:1902445, GO:0090324, GO:0090201, GO:0090200, GO:0071277, GO:0071243, GO:0070301, GO:0070301, GO:0070266, GO:0046902, GO:0046902, GO:0043066, GO:0032780, GO:0010939, GO:0010849, GO:0008637, GO:0006457, GO:0002931, GO:0000413, GO:0000413, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of oxidative phosphorylation uncoupler activity, mitochondrial outer membrane permeabilization involved in programmed cell death, regulation of mitochondrial membrane permeability involved in programmed necrotic cell death, regulation of mitochondrial membrane permeability involved in programmed necrotic cell death, negative regulation of oxidative phosphorylation, negative regulation of release of cytochrome c from mitochondria, positive regulation of release of cytochrome c from mitochondria, cellular response to calcium ion, cellular response to arsenic-containing substance, cellular response to hydrogen peroxide, cellular response to hydrogen peroxide, necroptotic process, regulation of mitochondrial membrane permeability, regulation of mitochondrial membrane permeability, negative regulation of apoptotic process, negative regulation of ATPase activity, regulation of necrotic cell death, regulation of proton-transporting ATPase activity, rotational mechanism, apoptotic mitochondrial changes, protein folding, response to ischemia, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, 7713 8877 11854 33226 28930 37336 42203 26018 34736 ENSG00000108187 chr10 68282660 68333049 - PBLD protein_coding 64081 GO:0070062, GO:0005737, GO:0005737, extracellular exosome, cytoplasm, cytoplasm, GO:0042802, GO:0016853, GO:0005515, GO:0003674, identical protein binding, isomerase activity, protein binding, molecular_function, GO:0060394, GO:0060392, GO:0050680, GO:0030512, GO:0030277, GO:0010719, GO:0010633, GO:0009058, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of SMAD protein signal transduction, negative regulation of epithelial cell proliferation, negative regulation of transforming growth factor beta receptor signaling pathway, maintenance of gastrointestinal epithelium, negative regulation of epithelial to mesenchymal transition, negative regulation of epithelial cell migration, biosynthetic process, 122 199 176 79 125 97 86 76 73 ENSG00000108219 chr10 80454166 80533123 + TSPAN14 protein_coding 81619 GO:0097197, GO:0070821, GO:0035579, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005788, tetraspanin-enriched microdomain, tertiary granule membrane, specific granule membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum lumen, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:0072659, GO:0051604, GO:0045747, GO:0044267, GO:0043312, protein localization to plasma membrane, protein maturation, positive regulation of Notch signaling pathway, cellular protein metabolic process, neutrophil degranulation, 788 803 1143 652 854 936 676 663 848 ENSG00000108231 chr10 93757809 93806272 + LGI1 protein_coding This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 9211 GO:0098978, GO:0005615, GO:0005576, glutamatergic synapse, extracellular space, extracellular region, GO:0005515, GO:0005102, GO:0005102, protein binding, signaling receptor binding, signaling receptor binding, GO:0099645, GO:0050806, GO:0031175, GO:0030307, GO:0007411, GO:0007399, neurotransmitter receptor localization to postsynaptic specialization membrane, positive regulation of synaptic transmission, neuron projection development, positive regulation of cell growth, axon guidance, nervous system development, 0 0 0 0 0 0 0 0 0 ENSG00000108239 chr10 94402504 94535930 + TBC1D12 protein_coding 23232 GO:0055037, GO:0005776, recycling endosome, autophagosome, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:2000785, GO:0090630, GO:0006886, regulation of autophagosome assembly, activation of GTPase activity, intracellular protein transport, 4 8 4 4 17 1 10 4 4 ENSG00000108242 chr10 94683621 94736190 + CYP2C18 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1562 GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0070330, GO:0020037, GO:0019825, GO:0016712, GO:0008401, GO:0008395, GO:0008392, GO:0005506, GO:0004497, aromatase activity, heme binding, oxygen binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, retinoic acid 4-hydroxylase activity, steroid hydroxylase activity, arachidonic acid epoxygenase activity, iron ion binding, monooxygenase activity, GO:0055114, GO:0042738, GO:0042573, GO:0019373, GO:0006805, GO:0006805, GO:0006082, oxidation-reduction process, exogenous drug catabolic process, retinoic acid metabolic process, epoxygenase P450 pathway, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000108244 chr17 40922696 40937634 - KRT23 protein_coding The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 25984 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000108255 chr17 29246863 29254494 + CRYBA1 protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]. 1411 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0005212, GO:0003674, protein binding, structural constituent of eye lens, molecular_function, GO:2000210, GO:0070373, GO:0051898, GO:0032007, GO:0014067, GO:0007601, GO:0007601, GO:0007601, GO:0002088, GO:0001818, positive regulation of anoikis, negative regulation of ERK1 and ERK2 cascade, negative regulation of protein kinase B signaling, negative regulation of TOR signaling, negative regulation of phosphatidylinositol 3-kinase signaling, visual perception, visual perception, visual perception, lens development in camera-type eye, negative regulation of cytokine production, 2 3 1 1 4 9 1 6 4 ENSG00000108256 chr17 29255836 29294118 - NUFIP2 protein_coding 57532 GO:0042788, GO:0042788, GO:0016604, GO:0016020, GO:0010494, GO:0010494, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, polysomal ribosome, polysomal ribosome, nuclear body, membrane, cytoplasmic stress granule, cytoplasmic stress granule, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, RNA binding, 3352 3705 3848 2107 3555 3973 2469 2720 3277 ENSG00000108262 chr17 29573469 29594054 - GIT1 protein_coding 28964 GO:0016020, GO:0005925, GO:0005925, GO:0005829, GO:0005829, GO:0005739, membrane, focal adhesion, focal adhesion, cytosol, cytosol, mitochondrion, GO:0046872, GO:0044877, GO:0005515, GO:0005096, metal ion binding, protein-containing complex binding, protein binding, GTPase activator activity, GO:0048013, GO:0043547, GO:0032465, GO:0008277, ephrin receptor signaling pathway, positive regulation of GTPase activity, regulation of cytokinesis, regulation of G protein-coupled receptor signaling pathway, 119 103 201 100 108 108 132 92 134 ENSG00000108298 chr17 39200283 39204732 + RPL19 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6143 GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, GO:0005829, GO:0005730, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, cytosol, nucleolus, GO:0005515, GO:0003735, GO:0003735, GO:0003735, GO:0003723, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1310 879 2000 3339 1676 3416 2365 1452 2408 ENSG00000108306 chr17 39252644 39402523 - FBXL20 protein_coding Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 84961 GO:0098978, GO:0098685, GO:0019005, GO:0005829, glutamatergic synapse, Schaffer collateral - CA1 synapse, SCF ubiquitin ligase complex, cytosol, GO:0005515, protein binding, GO:2000300, GO:0043687, GO:0031146, GO:0001662, GO:0000209, regulation of synaptic vesicle exocytosis, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, behavioral fear response, protein polyubiquitination, 1015 1279 1324 826 1447 1347 1042 1014 1227 ENSG00000108309 chr17 44308413 44318671 + RUNDC3A protein_coding 10900 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0030695, GO:0005515, GTPase regulator activity, protein binding, GO:0050790, GO:0010753, GO:0007264, regulation of catalytic activity, positive regulation of cGMP-mediated signaling, small GTPase mediated signal transduction, 14 7 5 18 9 2 4 7 17 ENSG00000108312 chr17 44205033 44221626 - UBTF protein_coding This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]. 7343 GO:0005730, GO:0005730, GO:0005654, GO:0005634, GO:0001650, nucleolus, nucleolus, nucleoplasm, nucleus, fibrillar center, GO:0097110, GO:0005515, GO:0003723, GO:0003682, GO:0001181, GO:0001165, GO:0001164, scaffold protein binding, protein binding, RNA binding, chromatin binding, RNA polymerase I general transcription initiation factor activity, RNA polymerase I cis-regulatory region sequence-specific DNA binding, RNA polymerase I core promoter sequence-specific DNA binding, GO:1902659, GO:0045943, GO:0006363, GO:0006362, GO:0006361, GO:0006361, GO:0006360, GO:0001188, regulation of glucose mediated signaling pathway, positive regulation of transcription by RNA polymerase I, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription by RNA polymerase I, RNA polymerase I preinitiation complex assembly, 561 590 739 643 577 704 655 541 656 ENSG00000108342 chr17 40015361 40017813 + CSF3 protein_coding This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cell that are part of the innate immune response. A modified form of this protein is commonly administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2020]. 1440 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0019899, GO:0008083, GO:0005130, GO:0005125, GO:0005125, GO:0005125, enzyme binding, growth factor activity, granulocyte colony-stimulating factor receptor binding, cytokine activity, cytokine activity, cytokine activity, GO:2000251, GO:1901215, GO:0071345, GO:0071222, GO:0051897, GO:0051091, GO:0050731, GO:0045944, GO:0045639, GO:0045471, GO:0033138, GO:0032092, GO:0030851, GO:0030838, GO:0019221, GO:0019221, GO:0014068, GO:0008284, GO:0007275, GO:0006955, positive regulation of actin cytoskeleton reorganization, negative regulation of neuron death, cellular response to cytokine stimulus, cellular response to lipopolysaccharide, positive regulation of protein kinase B signaling, positive regulation of DNA-binding transcription factor activity, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of transcription by RNA polymerase II, positive regulation of myeloid cell differentiation, response to ethanol, positive regulation of peptidyl-serine phosphorylation, positive regulation of protein binding, granulocyte differentiation, positive regulation of actin filament polymerization, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of cell population proliferation, multicellular organism development, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000108344 chr17 39980797 39997960 + PSMD3 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]. 5709 GO:1904813, GO:0070062, GO:0034774, GO:0022624, GO:0016020, GO:0008541, GO:0005829, GO:0005654, GO:0005634, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, proteasome accessory complex, membrane, proteasome regulatory particle, lid subcomplex, cytosol, nucleoplasm, nucleus, extracellular region, proteasome complex, GO:0030234, GO:0005515, enzyme regulator activity, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0050790, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0042176, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0006511, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, regulation of catalytic activity, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, ubiquitin-dependent protein catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 159 160 181 132 136 130 136 108 102 ENSG00000108349 chr17 40140318 40172183 + CASC3 protein_coding The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]. 22794 GO:0071006, GO:0048471, GO:0035145, GO:0035145, GO:0031965, GO:0030425, GO:0016607, GO:0010494, GO:0005829, GO:0005654, GO:0005634, U2-type catalytic step 1 spliceosome, perinuclear region of cytoplasm, exon-exon junction complex, exon-exon junction complex, nuclear membrane, dendrite, nuclear speck, cytoplasmic stress granule, cytosol, nucleoplasm, nucleus, GO:0042802, GO:0031625, GO:0019899, GO:0005515, GO:0003723, identical protein binding, ubiquitin protein ligase binding, enzyme binding, protein binding, RNA binding, GO:0031124, GO:0008298, GO:0006417, GO:0006406, GO:0006405, GO:0000398, GO:0000398, GO:0000184, mRNA 3'-end processing, intracellular mRNA localization, regulation of translation, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 5045 5055 5899 1969 3109 2673 2500 2720 2243 ENSG00000108352 chr17 40177010 40195656 + RAPGEFL1 protein_coding 51195 GO:0016020, membrane, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0007399, GO:0007264, GO:0007186, nervous system development, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, 256 252 159 290 382 297 361 273 213 ENSG00000108370 chr17 65100812 65227703 + RGS9 protein_coding This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 8787 GO:0005886, GO:0005737, GO:0005634, plasma membrane, cytoplasm, nucleus, GO:0005096, GO:0003924, GTPase activator activity, GTPase activity, GO:1905912, GO:1904783, GO:0043547, GO:0035556, GO:0032355, GO:0009968, GO:0008277, GO:0007601, GO:0007399, GO:0007212, GO:0007186, GO:0006457, GO:0001975, regulation of calcium ion export across plasma membrane, positive regulation of NMDA glutamate receptor activity, positive regulation of GTPase activity, intracellular signal transduction, response to estradiol, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, visual perception, nervous system development, dopamine receptor signaling pathway, G protein-coupled receptor signaling pathway, protein folding, response to amphetamine, 0 0 8 17 4 34 8 6 21 ENSG00000108375 chr17 58352500 58417595 - RNF43 protein_coding The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]. 54894 GO:0005887, GO:0005887, GO:0005886, GO:0005789, GO:0005635, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, nuclear envelope, GO:0061630, GO:0061630, GO:0046872, GO:0005515, GO:0005109, GO:0005109, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, frizzled binding, frizzled binding, ubiquitin-protein transferase activity, GO:0072089, GO:0038018, GO:0038018, GO:0038018, GO:0030178, GO:0016567, GO:0016567, GO:0016055, GO:0007275, GO:0006511, GO:0006511, stem cell proliferation, Wnt receptor catabolic process, Wnt receptor catabolic process, Wnt receptor catabolic process, negative regulation of Wnt signaling pathway, protein ubiquitination, protein ubiquitination, Wnt signaling pathway, multicellular organism development, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 19 16 28 30 39 65 47 28 69 ENSG00000108379 chr17 46762506 46833154 - WNT3 protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]. 7473 GO:1990909, GO:1990909, GO:0070062, GO:0031012, GO:0030666, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005615, GO:0005576, Wnt signalosome, Wnt signalosome, extracellular exosome, extracellular matrix, endocytic vesicle membrane, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, GO:0048018, GO:0048018, GO:0019904, GO:0005515, GO:0005125, GO:0005109, GO:0005109, receptor ligand activity, receptor ligand activity, protein domain specific binding, protein binding, cytokine activity, frizzled binding, frizzled binding, GO:1905474, GO:1904954, GO:0072089, GO:0071300, GO:0061180, GO:0060323, GO:0060174, GO:0060070, GO:0060070, GO:0060070, GO:0060064, GO:0050767, GO:0048843, GO:0048697, GO:0045165, GO:0044339, GO:0044338, GO:0035116, GO:0035115, GO:0030182, GO:0030182, GO:0030177, GO:0016055, GO:0010628, GO:0009950, GO:0009948, GO:0007411, GO:0007276, GO:0001707, GO:0000902, canonical Wnt signaling pathway involved in stem cell proliferation, canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, stem cell proliferation, cellular response to retinoic acid, mammary gland epithelium development, head morphogenesis, limb bud formation, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, Spemann organizer formation at the anterior end of the primitive streak, regulation of neurogenesis, negative regulation of axon extension involved in axon guidance, positive regulation of collateral sprouting in absence of injury, cell fate commitment, canonical Wnt signaling pathway involved in osteoblast differentiation, canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, neuron differentiation, neuron differentiation, positive regulation of Wnt signaling pathway, Wnt signaling pathway, positive regulation of gene expression, dorsal/ventral axis specification, anterior/posterior axis specification, axon guidance, gamete generation, mesoderm formation, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000108381 chr17 3472374 3503419 + ASPA protein_coding This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 443 GO:0005829, GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, cytosol, nucleus, GO:0046872, GO:0042802, GO:0019807, GO:0016811, GO:0016788, GO:0005515, GO:0004046, metal ion binding, identical protein binding, aspartoacylase activity, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides, hydrolase activity, acting on ester bonds, protein binding, aminoacylase activity, GO:0048714, GO:0022010, GO:0008652, GO:0006533, positive regulation of oligodendrocyte differentiation, central nervous system myelination, cellular amino acid biosynthetic process, aspartate catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000108384 chr17 58692573 58735611 + RAD51C protein_coding This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 5889 GO:0048476, GO:0048476, GO:0048471, GO:0043231, GO:0033065, GO:0033065, GO:0033063, GO:0033063, GO:0030054, GO:0005829, GO:0005739, GO:0005737, GO:0005657, GO:0005657, GO:0005654, GO:0005654, GO:0005634, Holliday junction resolvase complex, Holliday junction resolvase complex, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, Rad51C-XRCC3 complex, Rad51C-XRCC3 complex, Rad51B-Rad51C-Rad51D-XRCC2 complex, Rad51B-Rad51C-Rad51D-XRCC2 complex, cell junction, cytosol, mitochondrion, cytoplasm, replication fork, replication fork, nucleoplasm, nucleoplasm, nucleus, GO:0008821, GO:0008821, GO:0008094, GO:0005524, GO:0005515, GO:0003677, GO:0000400, GO:0000400, crossover junction endodeoxyribonuclease activity, crossover junction endodeoxyribonuclease activity, DNA-dependent ATPase activity, ATP binding, protein binding, DNA binding, four-way junction DNA binding, four-way junction DNA binding, GO:0010971, GO:0007596, GO:0007283, GO:0007141, GO:0007131, GO:0007066, GO:0007062, GO:0006310, GO:0006281, GO:0000724, GO:0000722, GO:0000707, positive regulation of G2/M transition of mitotic cell cycle, blood coagulation, spermatogenesis, male meiosis I, reciprocal meiotic recombination, female meiosis sister chromatid cohesion, sister chromatid cohesion, DNA recombination, DNA repair, double-strand break repair via homologous recombination, telomere maintenance via recombination, meiotic DNA recombinase assembly, 4 4 9 15 22 10 10 11 3 ENSG00000108387 chr17 58520250 58540818 - SEPT4 protein_coding This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]. 5414 GO:0097227, GO:0097227, GO:0032153, GO:0031105, GO:0031105, GO:0031105, GO:0015630, GO:0008021, GO:0005940, GO:0005829, GO:0005741, GO:0005739, GO:0005654, GO:0005634, sperm annulus, sperm annulus, cell division site, septin complex, septin complex, septin complex, microtubule cytoskeleton, synaptic vesicle, septin ring, cytosol, mitochondrial outer membrane, mitochondrion, nucleoplasm, nucleus, GO:0060090, GO:0042802, GO:0005525, GO:0005515, GO:0005198, GO:0003924, GO:0003924, GO:0000287, molecular adaptor activity, identical protein binding, GTP binding, protein binding, structural molecule activity, GTPase activity, GTPase activity, magnesium ion binding, GO:2001244, GO:0061640, GO:0043065, GO:0042981, GO:0034613, GO:0031398, GO:0030154, GO:0017157, GO:0007283, GO:0006915, positive regulation of intrinsic apoptotic signaling pathway, cytoskeleton-dependent cytokinesis, positive regulation of apoptotic process, regulation of apoptotic process, cellular protein localization, positive regulation of protein ubiquitination, cell differentiation, regulation of exocytosis, spermatogenesis, apoptotic process, 0 2 1 0 4 7 1 0 6 ENSG00000108389 chr17 58489529 58517905 - MTMR4 protein_coding 9110 GO:0031901, GO:0016020, GO:0005829, GO:0005768, GO:0005737, GO:0005615, early endosome membrane, membrane, cytosol, endosome, cytoplasm, extracellular space, GO:0052629, GO:0046872, GO:0019903, GO:0019903, GO:0005515, GO:0004725, GO:0004722, GO:0004438, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, metal ion binding, protein phosphatase binding, protein phosphatase binding, protein binding, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:0060304, GO:0046856, GO:0035335, GO:0030512, GO:0014894, GO:0010506, GO:0007179, GO:0006661, GO:0006470, regulation of phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, peptidyl-tyrosine dephosphorylation, negative regulation of transforming growth factor beta receptor signaling pathway, response to denervation involved in regulation of muscle adaptation, regulation of autophagy, transforming growth factor beta receptor signaling pathway, phosphatidylinositol biosynthetic process, protein dephosphorylation, 429 526 633 420 647 645 470 460 439 ENSG00000108395 chr17 58982638 59106921 - TRIM37 protein_coding This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. Mutations in this gene are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. TRIM37 localizes in peroxisomal membranes, and has been implicated in human peroxisomal biogenesis disorders. [provided by RefSeq, Jul 2020]. 4591 GO:0048471, GO:0035098, GO:0016235, GO:0016235, GO:0005829, GO:0005777, GO:0005777, GO:0005737, perinuclear region of cytoplasm, ESC/E(Z) complex, aggresome, aggresome, cytosol, peroxisome, peroxisome, cytoplasm, GO:0061630, GO:0061630, GO:0042803, GO:0031625, GO:0031625, GO:0008270, GO:0005515, GO:0005164, GO:0005164, GO:0004842, GO:0003682, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein homodimerization activity, ubiquitin protein ligase binding, ubiquitin protein ligase binding, zinc ion binding, protein binding, tumor necrosis factor receptor binding, tumor necrosis factor receptor binding, ubiquitin-protein transferase activity, chromatin binding, GO:0070842, GO:0051865, GO:0051865, GO:0051092, GO:0051092, GO:0051091, GO:0046600, GO:0046600, GO:0036353, GO:0036353, GO:0035518, GO:0032088, GO:0032088, GO:0000122, aggresome assembly, protein autoubiquitination, protein autoubiquitination, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, negative regulation of centriole replication, negative regulation of centriole replication, histone H2A-K119 monoubiquitination, histone H2A-K119 monoubiquitination, histone H2A monoubiquitination, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, negative regulation of transcription by RNA polymerase II, 52 84 113 63 68 56 57 60 53 ENSG00000108405 chr17 3896592 3916500 - P2RX1 protein_coding The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]. 5023 GO:0099059, GO:0045211, GO:0045121, GO:0043005, GO:0035579, GO:0032991, GO:0030667, GO:0009897, GO:0005887, GO:0005886, GO:0005639, integral component of presynaptic active zone membrane, postsynaptic membrane, membrane raft, neuron projection, specific granule membrane, protein-containing complex, secretory granule membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, integral component of nuclear inner membrane, GO:0044877, GO:0042802, GO:0008270, GO:0008144, GO:0005524, GO:0005515, GO:0005261, GO:0004931, GO:0001614, protein-containing complex binding, identical protein binding, zinc ion binding, drug binding, ATP binding, protein binding, cation channel activity, extracellularly ATP-gated cation channel activity, purinergic nucleotide receptor activity, GO:0098655, GO:0060079, GO:0051924, GO:0046513, GO:0043312, GO:0043270, GO:0035590, GO:0035249, GO:0033198, GO:0030168, GO:0019228, GO:0008217, GO:0007596, GO:0007320, GO:0007165, GO:0006919, GO:0006915, GO:0006811, GO:0003056, GO:0002554, cation transmembrane transport, excitatory postsynaptic potential, regulation of calcium ion transport, ceramide biosynthetic process, neutrophil degranulation, positive regulation of ion transport, purinergic nucleotide receptor signaling pathway, synaptic transmission, glutamatergic, response to ATP, platelet activation, neuronal action potential, regulation of blood pressure, blood coagulation, insemination, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, ion transport, regulation of vascular associated smooth muscle contraction, serotonin secretion by platelet, 1667 1971 1781 1204 2087 1779 1740 2070 1852 ENSG00000108406 chr17 59565525 59608345 + DHX40 protein_coding This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]. 79665 GO:0005622, intracellular anatomical structure, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, 1146 1291 1377 573 774 874 723 599 647 ENSG00000108417 chr17 41420753 41424523 - KRT37 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. 8688 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000108423 chr17 59859482 59892945 - TUBD1 protein_coding 51174 GO:0005929, GO:0005874, GO:0005829, GO:0005814, GO:0005737, GO:0005654, cilium, microtubule, cytosol, centriole, cytoplasm, nucleoplasm, GO:0005525, GO:0005200, GO:0003924, GTP binding, structural constituent of cytoskeleton, GTPase activity, GO:0045880, GO:0030030, GO:0007275, GO:0000278, GO:0000226, positive regulation of smoothened signaling pathway, cell projection organization, multicellular organism development, mitotic cell cycle, microtubule cytoskeleton organization, 22 21 23 40 36 32 44 20 32 ENSG00000108424 chr17 47649476 47685505 + KPNB1 protein_coding Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]. 3837 GO:1904813, GO:0071782, GO:0070062, GO:0043657, GO:0035580, GO:0031965, GO:0016020, GO:0010494, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005643, GO:0005635, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, endoplasmic reticulum tubular network, extracellular exosome, host cell, specific granule lumen, nuclear membrane, membrane, cytoplasmic stress granule, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nuclear pore, nuclear envelope, nucleus, extracellular region, GO:0061676, GO:0061608, GO:0051879, GO:0031267, GO:0019904, GO:0019899, GO:0008270, GO:0008139, GO:0005515, GO:0003723, importin-alpha family protein binding, nuclear import signal receptor activity, Hsp90 protein binding, small GTPase binding, protein domain specific binding, enzyme binding, zinc ion binding, nuclear localization sequence binding, protein binding, RNA binding, GO:0090307, GO:0075733, GO:0045540, GO:0045184, GO:0043312, GO:0040001, GO:0031291, GO:0030953, GO:0019054, GO:0007080, GO:0007079, GO:0006610, GO:0006607, GO:0006606, GO:0006606, GO:0006606, GO:0006309, mitotic spindle assembly, intracellular transport of virus, regulation of cholesterol biosynthetic process, establishment of protein localization, neutrophil degranulation, establishment of mitotic spindle localization, Ran protein signal transduction, astral microtubule organization, modulation by virus of host cellular process, mitotic metaphase plate congression, mitotic chromosome movement towards spindle pole, ribosomal protein import into nucleus, NLS-bearing protein import into nucleus, protein import into nucleus, protein import into nucleus, protein import into nucleus, apoptotic DNA fragmentation, 4299 3837 4951 2158 2966 3095 2364 2531 2653 ENSG00000108433 chr17 46923075 46975524 + GOSR2 protein_coding This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]. 9570 GO:0033116, GO:0031902, GO:0031201, GO:0031201, GO:0016021, GO:0016020, GO:0012507, GO:0012507, GO:0005829, GO:0005794, GO:0005794, GO:0005789, GO:0005789, GO:0000139, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, late endosome membrane, SNARE complex, SNARE complex, integral component of membrane, membrane, ER to Golgi transport vesicle membrane, ER to Golgi transport vesicle membrane, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, Golgi membrane, Golgi membrane, GO:0005515, GO:0005484, GO:0000149, protein binding, SNAP receptor activity, SNARE binding, GO:0048280, GO:0048208, GO:0042147, GO:0036498, GO:0006896, GO:0006891, GO:0006891, GO:0006888, GO:0006888, GO:0006623, vesicle fusion with Golgi apparatus, COPII vesicle coating, retrograde transport, endosome to Golgi, IRE1-mediated unfolded protein response, Golgi to vacuole transport, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein targeting to vacuole, 37 38 67 88 40 116 84 34 80 ENSG00000108439 chr17 47941506 47949308 + PNPO protein_coding The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]. 55163 GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, nucleoplasm, GO:0042803, GO:0030170, GO:0010181, GO:0005515, GO:0004733, GO:0004733, protein homodimerization activity, pyridoxal phosphate binding, FMN binding, protein binding, pyridoxamine-phosphate oxidase activity, pyridoxamine-phosphate oxidase activity, GO:0055114, GO:0042823, GO:0042823, GO:0042816, GO:0008615, oxidation-reduction process, pyridoxal phosphate biosynthetic process, pyridoxal phosphate biosynthetic process, vitamin B6 metabolic process, pyridoxine biosynthetic process, 6 4 11 12 1 9 9 7 18 ENSG00000108442 chr2 74628328 74628942 - TVP23BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000108443 chr17 59893046 59950564 + RPS6KB1 protein_coding This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]. 6198 GO:0045202, GO:0043005, GO:0005829, GO:0005741, GO:0005739, GO:0005737, GO:0005654, GO:0005634, synapse, neuron projection, cytosol, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0016301, GO:0005524, GO:0005515, GO:0004712, GO:0004711, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, kinase activity, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, ribosomal protein S6 kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0071363, GO:0048015, GO:0046627, GO:0045948, GO:0045931, GO:0045727, GO:0044539, GO:0043066, GO:0032869, GO:0031929, GO:0031929, GO:0031929, GO:0031667, GO:0018105, GO:0018105, GO:0007165, GO:0006915, GO:0000082, cellular response to growth factor stimulus, phosphatidylinositol-mediated signaling, negative regulation of insulin receptor signaling pathway, positive regulation of translational initiation, positive regulation of mitotic cell cycle, positive regulation of translation, long-chain fatty acid import into cell, negative regulation of apoptotic process, cellular response to insulin stimulus, TOR signaling, TOR signaling, TOR signaling, response to nutrient levels, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, signal transduction, apoptotic process, G1/S transition of mitotic cell cycle, 243 246 287 220 271 308 254 192 212 ENSG00000108448 chr17 18697998 18736118 + TRIM16L protein_coding 147166 GO:0005886, GO:0005829, plasma membrane, cytosol, 1 0 2 2 0 8 6 0 1 ENSG00000108452 chr17 15675476 15675643 + ZNF29P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000108465 chr17 47967810 47981774 + CDK5RAP3 protein_coding This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]. 80279 GO:0043231, GO:0032991, GO:0016020, GO:0005874, GO:0005829, GO:0005813, GO:0005737, GO:0005730, GO:0005730, GO:0005634, intracellular membrane-bounded organelle, protein-containing complex, membrane, microtubule, cytosol, centrosome, cytoplasm, nucleolus, nucleolus, nucleus, GO:0097371, GO:0051059, GO:0051019, GO:0044389, GO:0030332, GO:0019901, GO:0019901, GO:0005515, MDM2/MDM4 family protein binding, NF-kappaB binding, mitogen-activated protein kinase binding, ubiquitin-like protein ligase binding, cyclin binding, protein kinase binding, protein kinase binding, protein binding, GO:2000060, GO:1903363, GO:1901798, GO:1900182, GO:0071901, GO:0071569, GO:0071569, GO:0060318, GO:0045944, GO:0045664, GO:0044818, GO:0044387, GO:0043407, GO:0034976, GO:0032088, GO:0031398, GO:0030968, GO:0030262, GO:0016032, GO:0010921, GO:0008283, GO:0007420, GO:0007346, GO:0007095, GO:0001933, GO:0001889, GO:0000079, GO:0000079, positive regulation of ubiquitin-dependent protein catabolic process, negative regulation of cellular protein catabolic process, positive regulation of signal transduction by p53 class mediator, positive regulation of protein localization to nucleus, negative regulation of protein serine/threonine kinase activity, protein ufmylation, protein ufmylation, definitive erythrocyte differentiation, positive regulation of transcription by RNA polymerase II, regulation of neuron differentiation, mitotic G2/M transition checkpoint, negative regulation of protein kinase activity by regulation of protein phosphorylation, negative regulation of MAP kinase activity, response to endoplasmic reticulum stress, negative regulation of NF-kappaB transcription factor activity, positive regulation of protein ubiquitination, endoplasmic reticulum unfolded protein response, apoptotic nuclear changes, viral process, regulation of phosphatase activity, cell population proliferation, brain development, regulation of mitotic cell cycle, mitotic G2 DNA damage checkpoint, negative regulation of protein phosphorylation, liver development, regulation of cyclin-dependent protein serine/threonine kinase activity, regulation of cyclin-dependent protein serine/threonine kinase activity, 274 305 262 448 506 308 358 313 319 ENSG00000108468 chr17 48070052 48101521 - CBX1 protein_coding This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 10951 GO:0090734, GO:0005819, GO:0005654, GO:0005634, GO:0000792, GO:0000785, GO:0000781, GO:0000781, GO:0000775, site of DNA damage, spindle, nucleoplasm, nucleus, heterochromatin, chromatin, chromosome, telomeric region, chromosome, telomeric region, chromosome, centromeric region, GO:1990226, GO:0019899, GO:0005515, GO:0003682, histone methyltransferase binding, enzyme binding, protein binding, chromatin binding, GO:0006974, cellular response to DNA damage stimulus, 429 407 486 153 284 194 199 284 227 ENSG00000108469 chr17 75626845 75667189 - RECQL5 protein_coding The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. 9400 GO:0016591, GO:0005829, GO:0005737, GO:0005737, GO:0005694, GO:0005654, GO:0005654, GO:0005634, RNA polymerase II, holoenzyme, cytosol, cytoplasm, cytoplasm, chromosome, nucleoplasm, nucleoplasm, nucleus, GO:0043138, GO:0009378, GO:0005524, GO:0003678, GO:0003678, GO:0003676, GO:0000993, 3'-5' DNA helicase activity, four-way junction helicase activity, ATP binding, DNA helicase activity, DNA helicase activity, nucleic acid binding, RNA polymerase II complex binding, GO:2000042, GO:1990414, GO:0072757, GO:0051304, GO:0051301, GO:0035690, GO:0034244, GO:0032508, GO:0006310, GO:0006281, GO:0006281, GO:0006268, GO:0006260, GO:0006259, GO:0000724, GO:0000278, negative regulation of double-strand break repair via homologous recombination, replication-born double-strand break repair via sister chromatid exchange, cellular response to camptothecin, chromosome separation, cell division, cellular response to drug, negative regulation of transcription elongation from RNA polymerase II promoter, DNA duplex unwinding, DNA recombination, DNA repair, DNA repair, DNA unwinding involved in DNA replication, DNA replication, DNA metabolic process, double-strand break repair via homologous recombination, mitotic cell cycle, 104 167 192 98 111 137 107 121 85 ENSG00000108474 chr17 16217191 16351797 + PIGL protein_coding This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]. 9487 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0016811, GO:0000225, GO:0000225, GO:0000225, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides, N-acetylglucosaminylphosphatidylinositol deacetylase activity, N-acetylglucosaminylphosphatidylinositol deacetylase activity, N-acetylglucosaminylphosphatidylinositol deacetylase activity, GO:0016254, GO:0006506, GO:0006506, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 12 11 32 57 24 48 34 10 29 ENSG00000108479 chr17 75751594 75765711 - GALK1 protein_coding Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]. 2584 GO:0070062, GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, membrane, membrane, cytosol, cytosol, cytoplasm, GO:0005534, GO:0005524, GO:0005515, GO:0004335, GO:0004335, GO:0004335, galactose binding, ATP binding, protein binding, galactokinase activity, galactokinase activity, galactokinase activity, GO:0061623, GO:0046835, GO:0019402, GO:0019388, GO:0006012, GO:0006012, glycolytic process from galactose, carbohydrate phosphorylation, galactitol metabolic process, galactose catabolic process, galactose metabolic process, galactose metabolic process, 152 123 137 75 98 61 114 104 68 ENSG00000108506 chr17 61865367 61928016 - INTS2 protein_coding INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]. 57508 GO:0032039, GO:0032039, GO:0031965, GO:0016021, GO:0016020, GO:0005737, GO:0005654, GO:0005634, integrator complex, integrator complex, nuclear membrane, integral component of membrane, membrane, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0042795, GO:0034472, GO:0016180, snRNA transcription by RNA polymerase II, snRNA 3'-end processing, snRNA processing, 14 18 29 56 21 43 45 22 43 ENSG00000108509 chr17 4967992 4987652 - CAMTA2 protein_coding The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]. 23125 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0043565, GO:0042826, GO:0008134, GO:0005515, GO:0003713, GO:0003712, GO:0003690, GO:0003682, sequence-specific DNA binding, histone deacetylase binding, transcription factor binding, protein binding, transcription coactivator activity, transcription coregulator activity, double-stranded DNA binding, chromatin binding, GO:0045944, GO:0014898, GO:0006357, GO:0006357, positive regulation of transcription by RNA polymerase II, cardiac muscle hypertrophy in response to stress, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 997 1153 1319 657 937 907 825 782 740 ENSG00000108510 chr17 61942605 62065282 - MED13 protein_coding This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]. 9969 GO:0016592, GO:0016592, GO:0016020, GO:0005654, GO:0005654, GO:0005634, mediator complex, mediator complex, membrane, nucleoplasm, nucleoplasm, nucleus, GO:0046966, GO:0042809, GO:0030374, GO:0003713, GO:0003712, GO:0003712, thyroid hormone receptor binding, vitamin D receptor binding, nuclear receptor coactivator activity, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, GO:0070328, GO:0060261, GO:0045944, GO:0045893, GO:0043433, GO:0042632, GO:0006367, GO:0006357, triglyceride homeostasis, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, cholesterol homeostasis, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 1943 2319 2522 839 1274 1304 1058 1089 1019 ENSG00000108511 chr17 48595751 48604992 - HOXB6 protein_coding This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008]. 3216 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003723, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, RNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048704, GO:0034101, GO:0009952, GO:0006357, GO:0006357, embryonic skeletal system morphogenesis, erythrocyte homeostasis, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 2 0 0 0 0 0 0 ENSG00000108515 chr17 4948092 4957131 + ENO3 protein_coding This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]. 2027 GO:0070062, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005615, GO:0000015, extracellular exosome, membrane, plasma membrane, cytosol, cytosol, extracellular space, phosphopyruvate hydratase complex, GO:0044877, GO:0042802, GO:0004634, GO:0000287, protein-containing complex binding, identical protein binding, phosphopyruvate hydratase activity, magnesium ion binding, GO:0061621, GO:0043403, GO:0042493, GO:0032889, GO:0007568, GO:0006096, GO:0006094, canonical glycolysis, skeletal muscle tissue regeneration, response to drug, regulation of vacuole fusion, non-autophagic, aging, glycolytic process, gluconeogenesis, 2744 2860 3922 1532 2682 2771 1759 2593 2249 ENSG00000108516 chr17 41334632 41335733 + AC003958.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000108518 chr17 4945652 4949061 - PFN1 protein_coding This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]. 5216 GO:0098978, GO:0072562, GO:0070062, GO:0043005, GO:0016020, GO:0005938, GO:0005925, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005634, glutamatergic synapse, blood microparticle, extracellular exosome, neuron projection, membrane, cell cortex, focal adhesion, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleus, GO:0070064, GO:0045296, GO:0031267, GO:0005546, GO:0005515, GO:0005102, GO:0003785, GO:0003779, GO:0003779, GO:0003723, GO:0001784, GO:0000774, proline-rich region binding, cadherin binding, small GTPase binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, signaling receptor binding, actin monomer binding, actin binding, actin binding, RNA binding, phosphotyrosine residue binding, adenyl-nucleotide exchange factor activity, GO:1900029, GO:0098885, GO:0071363, GO:0060074, GO:0060071, GO:0051497, GO:0051496, GO:0051054, GO:0050821, GO:0050434, GO:0045944, GO:0032781, GO:0032233, GO:0032232, GO:0030838, GO:0030837, GO:0030833, GO:0030036, GO:0010634, GO:0001843, positive regulation of ruffle assembly, modification of postsynaptic actin cytoskeleton, cellular response to growth factor stimulus, synapse maturation, Wnt signaling pathway, planar cell polarity pathway, negative regulation of stress fiber assembly, positive regulation of stress fiber assembly, positive regulation of DNA metabolic process, protein stabilization, positive regulation of viral transcription, positive regulation of transcription by RNA polymerase II, positive regulation of ATPase activity, positive regulation of actin filament bundle assembly, negative regulation of actin filament bundle assembly, positive regulation of actin filament polymerization, negative regulation of actin filament polymerization, regulation of actin filament polymerization, actin cytoskeleton organization, positive regulation of epithelial cell migration, neural tube closure, 5515 5614 8062 3452 6163 5971 3902 5634 5115 ENSG00000108523 chr17 4940008 4945222 + RNF167 protein_coding RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008]. 26001 GO:0016021, GO:0012505, GO:0005737, GO:0005737, integral component of membrane, endomembrane system, cytoplasm, cytoplasm, GO:0061630, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0045786, GO:0045786, GO:0006511, GO:0000209, negative regulation of cell cycle, negative regulation of cell cycle, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 1431 1450 1748 610 1096 793 753 1040 876 ENSG00000108528 chr17 4937130 4940251 - SLC25A11 protein_coding The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]. 8402 GO:0005887, GO:0005743, GO:0005739, GO:0005634, integral component of plasma membrane, mitochondrial inner membrane, mitochondrion, nucleus, GO:0015367, GO:0015297, GO:0015141, GO:0015140, GO:0015131, GO:0015117, GO:0015116, GO:0005515, GO:0003723, oxoglutarate:malate antiporter activity, antiporter activity, succinate transmembrane transporter activity, malate transmembrane transporter activity, oxaloacetate transmembrane transporter activity, thiosulfate transmembrane transporter activity, sulfate transmembrane transporter activity, protein binding, RNA binding, GO:1902358, GO:1902356, GO:0071423, GO:0071422, GO:0035435, GO:0015742, GO:0015729, GO:0015709, GO:0008272, GO:0006094, sulfate transmembrane transport, oxaloacetate(2-) transmembrane transport, malate transmembrane transport, succinate transmembrane transport, phosphate ion transmembrane transport, alpha-ketoglutarate transport, oxaloacetate transport, thiosulfate transport, sulfate transport, gluconeogenesis, 334 309 353 142 242 247 209 273 166 ENSG00000108551 chr17 17494437 17496395 - RASD1 protein_coding This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011]. 51655 GO:0048471, GO:0016529, GO:0005886, GO:0005634, perinuclear region of cytoplasm, sarcoplasmic reticulum, plasma membrane, nucleus, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0045892, GO:0007263, GO:0007186, GO:0007165, negative regulation of transcription, DNA-templated, nitric oxide mediated signal transduction, G protein-coupled receptor signaling pathway, signal transduction, 0 0 1 30 101 68 4 25 37 ENSG00000108556 chr17 4897774 4934438 - CHRNE protein_coding Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]. 1145 GO:0099060, GO:0045202, GO:0043005, GO:0031594, GO:0031594, GO:0005892, GO:0005887, GO:0005886, integral component of postsynaptic specialization membrane, synapse, neuron projection, neuromuscular junction, neuromuscular junction, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, GO:1904315, GO:1904315, GO:0030594, GO:0022848, GO:0015464, GO:0008324, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, cation transmembrane transporter activity, GO:0098655, GO:0060079, GO:0050877, GO:0042391, GO:0034220, GO:0007271, GO:0007268, GO:0007165, GO:0006936, cation transmembrane transport, excitatory postsynaptic potential, nervous system process, regulation of membrane potential, ion transmembrane transport, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, muscle contraction, 481 672 608 647 1351 1533 697 1234 1308 ENSG00000108557 chr17 17681473 17811453 + RAI1 protein_coding This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]. 10743 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0045893, GO:0040015, GO:0032922, GO:0032922, GO:0006357, GO:0001501, positive regulation of transcription, DNA-templated, negative regulation of multicellular organism growth, circadian regulation of gene expression, circadian regulation of gene expression, regulation of transcription by RNA polymerase II, skeletal system development, 30 44 63 48 29 47 72 45 42 ENSG00000108559 chr17 5360963 5420160 - NUP88 protein_coding The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. 4927 GO:0043657, GO:0005829, GO:0005654, GO:0005643, GO:0005643, host cell, cytosol, nucleoplasm, nuclear pore, nuclear pore, GO:0017056, GO:0005515, GO:0005215, structural constituent of nuclear pore, protein binding, transporter activity, GO:1900034, GO:0075733, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006606, GO:0006409, GO:0006406, GO:0006406, GO:0006110, GO:0000278, GO:0000056, GO:0000055, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, mitotic cell cycle, ribosomal small subunit export from nucleus, ribosomal large subunit export from nucleus, 128 98 177 181 118 159 158 99 147 ENSG00000108561 chr17 5432777 5448830 - C1QBP protein_coding The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]. 708 GO:0016020, GO:0009986, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005737, GO:0005730, GO:0005634, GO:0005634, GO:0005615, membrane, cell surface, cell surface, plasma membrane, plasma membrane, plasma membrane, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, nucleolus, nucleus, nucleus, extracellular space, GO:0097177, GO:0097177, GO:0031690, GO:0030984, GO:0030984, GO:0008494, GO:0008134, GO:0008134, GO:0005540, GO:0005540, GO:0005515, GO:0005080, GO:0003729, GO:0003729, GO:0003714, GO:0003714, GO:0001849, GO:0001849, mitochondrial ribosome binding, mitochondrial ribosome binding, adrenergic receptor binding, kininogen binding, kininogen binding, translation activator activity, transcription factor binding, transcription factor binding, hyaluronic acid binding, hyaluronic acid binding, protein binding, protein kinase C binding, mRNA binding, mRNA binding, transcription corepressor activity, transcription corepressor activity, complement component C1q complex binding, complement component C1q complex binding, GO:2000510, GO:1901165, GO:1900026, GO:0090023, GO:0070131, GO:0070131, GO:0051897, GO:0050687, GO:0048025, GO:0048025, GO:0045785, GO:0045087, GO:0043065, GO:0042256, GO:0042256, GO:0039536, GO:0039534, GO:0032695, GO:0032689, GO:0030449, GO:0030449, GO:0016032, GO:0014065, GO:0008380, GO:0007597, GO:0006958, GO:0006955, GO:0006915, GO:0006397, GO:0000122, positive regulation of dendritic cell chemotaxis, positive regulation of trophoblast cell migration, positive regulation of substrate adhesion-dependent cell spreading, positive regulation of neutrophil chemotaxis, positive regulation of mitochondrial translation, positive regulation of mitochondrial translation, positive regulation of protein kinase B signaling, negative regulation of defense response to virus, negative regulation of mRNA splicing, via spliceosome, negative regulation of mRNA splicing, via spliceosome, positive regulation of cell adhesion, innate immune response, positive regulation of apoptotic process, mature ribosome assembly, mature ribosome assembly, negative regulation of RIG-I signaling pathway, negative regulation of MDA-5 signaling pathway, negative regulation of interleukin-12 production, negative regulation of interferon-gamma production, regulation of complement activation, regulation of complement activation, viral process, phosphatidylinositol 3-kinase signaling, RNA splicing, blood coagulation, intrinsic pathway, complement activation, classical pathway, immune response, apoptotic process, mRNA processing, negative regulation of transcription by RNA polymerase II, 22 12 35 82 28 67 52 43 65 ENSG00000108576 chr17 30194319 30236002 - SLC6A4 protein_coding This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake. There have been conflicting results in the literature about the possible effect, if any, that this polymorphism may play in behavior and depression. [provided by RefSeq, May 2019]. 6532 GO:0099154, GO:0099056, GO:0099055, GO:0045202, GO:0045121, GO:0043005, GO:0012505, GO:0010008, GO:0005925, GO:0005886, GO:0005886, GO:0005886, serotonergic synapse, integral component of presynaptic membrane, integral component of postsynaptic membrane, synapse, membrane raft, neuron projection, endomembrane system, endosome membrane, focal adhesion, plasma membrane, plasma membrane, plasma membrane, GO:0051378, GO:0051015, GO:0050998, GO:0046872, GO:0042802, GO:0019811, GO:0017075, GO:0008504, GO:0008504, GO:0005515, GO:0005335, GO:0005335, GO:0005335, GO:0005326, serotonin binding, actin filament binding, nitric-oxide synthase binding, metal ion binding, identical protein binding, cocaine binding, syntaxin-1 binding, monoamine transmembrane transporter activity, monoamine transmembrane transporter activity, protein binding, serotonin:sodium symporter activity, serotonin:sodium symporter activity, serotonin:sodium symporter activity, neurotransmitter transmembrane transporter activity, GO:0090067, GO:0071321, GO:0071300, GO:0051610, GO:0051610, GO:0051610, GO:0051610, GO:0048854, GO:0046621, GO:0045787, GO:0045665, GO:0042713, GO:0042493, GO:0042310, GO:0042136, GO:0035725, GO:0035176, GO:0032355, GO:0032227, GO:0021941, GO:0015844, GO:0014064, GO:0010628, GO:0009636, GO:0007623, GO:0007613, GO:0007584, GO:0006836, GO:0001666, regulation of thalamus size, cellular response to cGMP, cellular response to retinoic acid, serotonin uptake, serotonin uptake, serotonin uptake, serotonin uptake, brain morphogenesis, negative regulation of organ growth, positive regulation of cell cycle, negative regulation of neuron differentiation, sperm ejaculation, response to drug, vasoconstriction, neurotransmitter biosynthetic process, sodium ion transmembrane transport, social behavior, response to estradiol, negative regulation of synaptic transmission, dopaminergic, negative regulation of cerebellar granule cell precursor proliferation, monoamine transport, positive regulation of serotonin secretion, positive regulation of gene expression, response to toxic substance, circadian rhythm, memory, response to nutrient, neurotransmitter transport, response to hypoxia, 1 4 2 5 2 2 2 4 5 ENSG00000108578 chr17 30248195 30292056 - BLMH protein_coding Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]. 642 GO:0070062, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytoplasm, nucleus, GO:0042802, GO:0008234, GO:0005515, GO:0004197, GO:0004180, GO:0004177, identical protein binding, cysteine-type peptidase activity, protein binding, cysteine-type endopeptidase activity, carboxypeptidase activity, aminopeptidase activity, GO:0043418, GO:0042493, GO:0009636, GO:0006508, GO:0000209, homocysteine catabolic process, response to drug, response to toxic substance, proteolysis, protein polyubiquitination, 33 14 34 59 18 80 57 22 41 ENSG00000108582 chr17 30378905 30469989 + CPD protein_coding The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]. 1362 GO:0070062, GO:0016021, GO:0016020, GO:0005886, GO:0005615, extracellular exosome, integral component of membrane, membrane, plasma membrane, extracellular space, GO:0008270, GO:0004185, GO:0004181, zinc ion binding, serine-type carboxypeptidase activity, metallocarboxypeptidase activity, GO:0016485, GO:0006518, protein processing, peptide metabolic process, 10938 9190 20349 1950 3426 4337 2342 2894 3247 ENSG00000108587 chr17 30477362 30527592 + GOSR1 protein_coding This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9527 GO:0031201, GO:0031201, GO:0030133, GO:0016021, GO:0016020, GO:0005829, GO:0005801, GO:0005797, GO:0005794, GO:0000139, GO:0000139, GO:0000139, SNARE complex, SNARE complex, transport vesicle, integral component of membrane, membrane, cytosol, cis-Golgi network, Golgi medial cisterna, Golgi apparatus, Golgi membrane, Golgi membrane, Golgi membrane, GO:0005484, GO:0005484, SNAP receptor activity, SNAP receptor activity, GO:0048209, GO:0042147, GO:0015031, GO:0006906, GO:0006891, GO:0006888, GO:0006888, regulation of vesicle targeting, to, from or within Golgi, retrograde transport, endosome to Golgi, protein transport, vesicle fusion, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 293 232 360 232 301 276 284 181 205 ENSG00000108588 chr17 63745250 63776351 - CCDC47 protein_coding 57003 GO:0030867, GO:0016021, GO:0016020, GO:0005783, GO:0005783, rough endoplasmic reticulum membrane, integral component of membrane, membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0005509, GO:0003723, protein binding, calcium ion binding, RNA binding, GO:0036503, GO:0032469, GO:0030433, GO:0009791, GO:0007029, GO:0006983, GO:0001649, ERAD pathway, endoplasmic reticulum calcium ion homeostasis, ubiquitin-dependent ERAD pathway, post-embryonic development, endoplasmic reticulum organization, ER overload response, osteoblast differentiation, 867 627 962 366 361 405 484 381 365 ENSG00000108590 chr17 6643315 6651634 - MED31 protein_coding 51003 GO:0070847, GO:0016592, GO:0005654, GO:0000151, core mediator complex, mediator complex, nucleoplasm, ubiquitin ligase complex, GO:0061630, GO:0005515, GO:0003712, ubiquitin protein ligase activity, protein binding, transcription coregulator activity, GO:0060173, GO:0048147, GO:0016567, GO:0006367, GO:0006357, limb development, negative regulation of fibroblast proliferation, protein ubiquitination, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 75 61 80 56 73 69 59 80 53 ENSG00000108591 chr17 18087886 18107971 + DRG2 protein_coding This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012]. 1819 GO:0043231, GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005525, GO:0005515, GO:0003924, GO:0003723, metal ion binding, GTP binding, protein binding, GTPase activity, RNA binding, GO:0007165, GO:0002181, signal transduction, cytoplasmic translation, 33 41 51 86 38 90 68 60 48 ENSG00000108592 chr17 63819433 63830012 - FTSJ3 protein_coding Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008]. 117246 GO:0030688, GO:0030687, GO:0005730, GO:0005730, GO:0005654, preribosome, small subunit precursor, preribosome, large subunit precursor, nucleolus, nucleolus, nucleoplasm, GO:0062105, GO:0016435, GO:0008650, GO:0008173, GO:0005515, GO:0003723, RNA 2'-O-methyltransferase activity, rRNA (guanine) methyltransferase activity, rRNA (uridine-2'-O-)-methyltransferase activity, RNA methyltransferase activity, protein binding, RNA binding, GO:0031167, GO:0001510, GO:0001510, GO:0000466, GO:0000463, GO:0000453, rRNA methylation, RNA methylation, RNA methylation, maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), enzyme-directed rRNA 2'-O-methylation, 190 168 164 377 239 328 287 172 236 ENSG00000108599 chr17 19904302 19978343 - AKAP10 protein_coding This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]. 11216 GO:0032991, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005739, protein-containing complex, plasma membrane, plasma membrane, cytosol, cytosol, mitochondrion, GO:0051018, GO:0005515, protein kinase A binding, protein binding, GO:0008104, GO:0007596, GO:0007165, protein localization, blood coagulation, signal transduction, 500 654 547 492 849 617 570 595 441 ENSG00000108602 chr17 19737984 19748943 - ALDH3A1 protein_coding Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]. 218 GO:0016021, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005615, integral component of membrane, plasma membrane, cytosol, cytosol, cytosol, endoplasmic reticulum, extracellular space, GO:0018479, GO:0008106, GO:0005515, GO:0004030, GO:0004029, GO:0004028, benzaldehyde dehydrogenase (NAD+) activity, alcohol dehydrogenase (NADP+) activity, protein binding, aldehyde dehydrogenase [NAD(P)+] activity, aldehyde dehydrogenase (NAD+) activity, 3-chloroallyl aldehyde dehydrogenase activity, GO:0055114, GO:0051591, GO:0051384, GO:0042493, GO:0008284, GO:0007584, GO:0007568, GO:0006805, GO:0006081, GO:0001666, oxidation-reduction process, response to cAMP, response to glucocorticoid, response to drug, positive regulation of cell population proliferation, response to nutrient, aging, xenobiotic metabolic process, cellular aldehyde metabolic process, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000108604 chr17 63832081 63843065 - SMARCD2 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6603 GO:0032991, GO:0016514, GO:0016514, GO:0005654, GO:0005634, GO:0000785, protein-containing complex, SWI/SNF complex, SWI/SNF complex, nucleoplasm, nucleus, chromatin, GO:0031492, GO:0005515, GO:0003713, GO:0001228, nucleosomal DNA binding, protein binding, transcription coactivator activity, DNA-binding transcription activator activity, RNA polymerase II-specific, GO:0045944, GO:0043044, GO:0006357, GO:0006357, GO:0006338, GO:0006337, GO:0006337, positive regulation of transcription by RNA polymerase II, ATP-dependent chromatin remodeling, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, nucleosome disassembly, nucleosome disassembly, 857 772 924 472 556 496 457 471 513 ENSG00000108622 chr17 64002594 64020634 - ICAM2 protein_coding The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 3384 GO:0032154, GO:0016020, GO:0005902, GO:0005887, GO:0005886, GO:0001931, cleavage furrow, membrane, microvillus, integral component of plasma membrane, plasma membrane, uropod, GO:0005178, GO:0005178, integrin binding, integrin binding, GO:0098609, GO:0050776, GO:0030198, GO:0007155, GO:0002223, cell-cell adhesion, regulation of immune response, extracellular matrix organization, cell adhesion, stimulatory C-type lectin receptor signaling pathway, 253 224 366 163 71 180 150 73 88 ENSG00000108639 chr17 78168558 78173527 + SYNGR2 protein_coding This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 9144 GO:0070062, GO:0031594, GO:0030672, GO:0030672, GO:0016021, GO:0005811, extracellular exosome, neuromuscular junction, synaptic vesicle membrane, synaptic vesicle membrane, integral component of membrane, lipid droplet, GO:0005515, protein binding, GO:0048499, GO:0045055, GO:0016032, synaptic vesicle membrane organization, regulated exocytosis, viral process, 450 413 578 241 338 340 267 359 326 ENSG00000108641 chr17 19337554 19378193 - B9D1 protein_coding This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]. 27077 GO:0036064, GO:0036038, GO:0036038, GO:0035869, GO:0016020, GO:0005829, GO:0005813, ciliary basal body, MKS complex, MKS complex, ciliary transition zone, membrane, cytosol, centrosome, GO:0008158, hedgehog receptor activity, GO:0097711, GO:0060563, GO:0060271, GO:0060271, GO:0043010, GO:0042733, GO:0032880, GO:0007224, GO:0001944, GO:0001701, ciliary basal body-plasma membrane docking, neuroepithelial cell differentiation, cilium assembly, cilium assembly, camera-type eye development, embryonic digit morphogenesis, regulation of protein localization, smoothened signaling pathway, vasculature development, in utero embryonic development, 6 1 3 3 1 34 11 6 3 ENSG00000108651 chr17 31860899 31901765 - UTP6 protein_coding 55813 GO:0034388, GO:0032040, GO:0005730, GO:0005654, Pwp2p-containing subcomplex of 90S preribosome, small-subunit processome, nucleolus, nucleoplasm, GO:0030515, GO:0005515, snoRNA binding, protein binding, GO:0006364, GO:0000462, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 313 376 306 201 407 305 268 349 238 ENSG00000108654 chr17 64499616 64508199 - DDX5 protein_coding This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2017]. 1655 GO:1990904, GO:1990904, GO:0071013, GO:0070062, GO:0016020, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, catalytic step 2 spliceosome, extracellular exosome, membrane, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, nucleus, nucleus, GO:1990841, GO:0070878, GO:0070412, GO:0050681, GO:0048306, GO:0046332, GO:0043021, GO:0036002, GO:0035500, GO:0019899, GO:0005524, GO:0005516, GO:0005515, GO:0003730, GO:0003724, GO:0003724, GO:0003724, GO:0003723, GO:0003723, promoter-specific chromatin binding, primary miRNA binding, R-SMAD binding, androgen receptor binding, calcium-dependent protein binding, SMAD binding, ribonucleoprotein complex binding, pre-mRNA binding, MH2 domain binding, enzyme binding, ATP binding, calmodulin binding, protein binding, mRNA 3'-UTR binding, RNA helicase activity, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, GO:2001014, GO:1903800, GO:1902893, GO:0072332, GO:0061614, GO:0060765, GO:0048511, GO:0045667, GO:0045445, GO:0045069, GO:0043517, GO:0030521, GO:0030520, GO:0030509, GO:0009299, GO:0006357, GO:0001837, GO:0000956, GO:0000398, GO:0000398, GO:0000381, GO:0000381, GO:0000380, GO:0000122, regulation of skeletal muscle cell differentiation, positive regulation of production of miRNAs involved in gene silencing by miRNA, regulation of pri-miRNA transcription by RNA polymerase II, intrinsic apoptotic signaling pathway by p53 class mediator, pri-miRNA transcription by RNA polymerase II, regulation of androgen receptor signaling pathway, rhythmic process, regulation of osteoblast differentiation, myoblast differentiation, regulation of viral genome replication, positive regulation of DNA damage response, signal transduction by p53 class mediator, androgen receptor signaling pathway, intracellular estrogen receptor signaling pathway, BMP signaling pathway, mRNA transcription, regulation of transcription by RNA polymerase II, epithelial to mesenchymal transition, nuclear-transcribed mRNA catabolic process, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, 19929 20382 24946 34070 49627 43263 31484 32831 32256 ENSG00000108666 chr17 32324565 32350023 - C17orf75 protein_coding 64149 GO:0031410, GO:0005802, GO:0005802, cytoplasmic vesicle, trans-Golgi network, trans-Golgi network, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0099041, GO:0099041, GO:0006886, vesicle tethering to Golgi, vesicle tethering to Golgi, intracellular protein transport, 5 1 13 33 6 23 14 8 9 ENSG00000108669 chr17 78674048 78782297 - CYTH1 protein_coding The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 9267 GO:0031234, GO:0005923, GO:0005912, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0000139, extrinsic component of cytoplasmic side of plasma membrane, bicellular tight junction, adherens junction, plasma membrane, cytosol, cytosol, cytoplasm, Golgi membrane, GO:0008289, GO:0005515, GO:0005085, lipid binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0090162, GO:0032012, GO:0030155, GO:0016192, establishment of epithelial cell polarity, regulation of ARF protein signal transduction, regulation of cell adhesion, vesicle-mediated transport, 4183 4355 5645 3378 4780 4762 4069 3441 3754 ENSG00000108671 chr17 32444261 32483318 + PSMD11 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]. 5717 GO:1904813, GO:0034774, GO:0022624, GO:0016020, GO:0008541, GO:0005829, GO:0005654, GO:0005634, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, secretory granule lumen, proteasome accessory complex, membrane, proteasome regulatory particle, lid subcomplex, cytosol, nucleoplasm, nucleus, extracellular region, proteasome complex, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0048863, GO:0043687, GO:0043488, GO:0043312, GO:0043248, GO:0043248, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0006511, GO:0006511, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, stem cell differentiation, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome assembly, proteasome assembly, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 230 211 316 248 243 232 223 157 150 ENSG00000108679 chr17 78971238 78980109 - LGALS3BP protein_coding The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008]. 3959 GO:0072562, GO:0070062, GO:0062023, GO:0062023, GO:0031089, GO:0016020, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet dense granule lumen, membrane, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005044, protein binding, scavenger receptor activity, GO:0007165, GO:0007155, GO:0006968, GO:0006897, GO:0002576, signal transduction, cell adhesion, cellular defense response, endocytosis, platelet degranulation, 68 71 78 134 91 107 118 80 46 ENSG00000108684 chr17 33013087 34174964 - ASIC2 protein_coding This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]. 40 GO:0043197, GO:0043025, GO:0005887, GO:0005886, dendritic spine, neuronal cell body, integral component of plasma membrane, plasma membrane, GO:0022839, GO:0015280, GO:0005515, ion gated channel activity, ligand-gated sodium channel activity, protein binding, GO:0051965, GO:0050974, GO:0050915, GO:0043066, GO:0042391, GO:0035725, GO:0035418, GO:0034765, GO:0034220, GO:0019229, GO:0015672, GO:0010447, GO:0007605, GO:0007602, GO:0007422, GO:0007417, GO:0007268, GO:0003026, positive regulation of synapse assembly, detection of mechanical stimulus involved in sensory perception, sensory perception of sour taste, negative regulation of apoptotic process, regulation of membrane potential, sodium ion transmembrane transport, protein localization to synapse, regulation of ion transmembrane transport, ion transmembrane transport, regulation of vasoconstriction, monovalent inorganic cation transport, response to acidic pH, sensory perception of sound, phototransduction, peripheral nervous system development, central nervous system development, chemical synaptic transmission, regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback, 0 0 0 0 0 0 0 0 0 ENSG00000108688 chr17 34270221 34272242 + CCL7 protein_coding This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [provided by RefSeq, Jul 2008]. 6354 GO:0005615, extracellular space, GO:0048020, GO:0031727, GO:0031726, GO:0008201, GO:0008009, GO:0008009, GO:0005515, CCR chemokine receptor binding, CCR2 chemokine receptor binding, CCR1 chemokine receptor binding, heparin binding, chemokine activity, chemokine activity, protein binding, GO:2000503, GO:0071361, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0048247, GO:0048245, GO:0048245, GO:0043547, GO:0030593, GO:0030335, GO:0010332, GO:0008360, GO:0007267, GO:0007186, GO:0007165, GO:0007010, GO:0006954, GO:0006935, GO:0006874, GO:0002548, GO:0002548, positive regulation of natural killer cell chemotaxis, cellular response to ethanol, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, eosinophil chemotaxis, eosinophil chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, positive regulation of cell migration, response to gamma radiation, regulation of cell shape, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, cytoskeleton organization, inflammatory response, chemotaxis, cellular calcium ion homeostasis, monocyte chemotaxis, monocyte chemotaxis, 0 0 0 3 3 6 4 0 0 ENSG00000108691 chr17 34255218 34257203 + CCL2 protein_coding This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020]. 6347 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0048020, GO:0031727, GO:0031727, GO:0008009, GO:0005515, GO:0005102, GO:0004672, CCR chemokine receptor binding, CCR2 chemokine receptor binding, CCR2 chemokine receptor binding, chemokine activity, protein binding, signaling receptor binding, protein kinase activity, GO:2000502, GO:2000427, GO:2000353, GO:2000134, GO:1905563, GO:1904783, GO:0090280, GO:0071407, GO:0071356, GO:0071356, GO:0071356, GO:0071347, GO:0071347, GO:0071347, GO:0071346, GO:0071346, GO:0071346, GO:0071222, GO:0070374, GO:0070098, GO:0051968, GO:0051770, GO:0050870, GO:0048247, GO:0048246, GO:0048245, GO:0044344, GO:0043615, GO:0043547, GO:0043524, GO:0043491, GO:0036499, GO:0035684, GO:0034351, GO:0031663, GO:0030593, GO:0019725, GO:0019233, GO:0019221, GO:0019221, GO:0019079, GO:0009887, GO:0009617, GO:0008360, GO:0007259, GO:0007187, GO:0007186, GO:0007166, GO:0007165, GO:0007155, GO:0007010, GO:0006959, GO:0006954, GO:0006954, GO:0006935, GO:0006468, GO:0002548, GO:0002548, GO:0001525, GO:0000165, negative regulation of natural killer cell chemotaxis, positive regulation of apoptotic cell clearance, positive regulation of endothelial cell apoptotic process, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular endothelial cell proliferation, positive regulation of NMDA glutamate receptor activity, positive regulation of calcium ion import, cellular response to organic cyclic compound, cellular response to tumor necrosis factor, cellular response to tumor necrosis factor, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interleukin-1, cellular response to interleukin-1, cellular response to interferon-gamma, cellular response to interferon-gamma, cellular response to interferon-gamma, cellular response to lipopolysaccharide, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, positive regulation of synaptic transmission, glutamatergic, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of T cell activation, lymphocyte chemotaxis, macrophage chemotaxis, eosinophil chemotaxis, cellular response to fibroblast growth factor stimulus, astrocyte cell migration, positive regulation of GTPase activity, negative regulation of neuron apoptotic process, protein kinase B signaling, PERK-mediated unfolded protein response, helper T cell extravasation, negative regulation of glial cell apoptotic process, lipopolysaccharide-mediated signaling pathway, neutrophil chemotaxis, cellular homeostasis, sensory perception of pain, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, viral genome replication, animal organ morphogenesis, response to bacterium, regulation of cell shape, receptor signaling pathway via JAK-STAT, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, cell adhesion, cytoskeleton organization, humoral immune response, inflammatory response, inflammatory response, chemotaxis, protein phosphorylation, monocyte chemotaxis, monocyte chemotaxis, angiogenesis, MAPK cascade, 0 4 5 0 5 0 0 3 1 ENSG00000108700 chr17 34319036 34321402 + CCL8 protein_coding This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Sep 2014]. 6355 GO:0005615, extracellular space, GO:0048020, GO:0016004, GO:0008201, GO:0008009, GO:0005515, GO:0004672, CCR chemokine receptor binding, phospholipase activator activity, heparin binding, chemokine activity, protein binding, protein kinase activity, GO:0071356, GO:0071347, GO:0071346, GO:0070664, GO:0070374, GO:0070098, GO:0048247, GO:0048245, GO:0044828, GO:0043547, GO:0030593, GO:0009615, GO:0007267, GO:0007186, GO:0007165, GO:0006954, GO:0006935, GO:0006887, GO:0006874, GO:0006816, GO:0006468, GO:0002687, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, negative regulation of leukocyte proliferation, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, eosinophil chemotaxis, negative regulation by host of viral genome replication, positive regulation of GTPase activity, neutrophil chemotaxis, response to virus, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, exocytosis, cellular calcium ion homeostasis, calcium ion transport, protein phosphorylation, positive regulation of leukocyte migration, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000108702 chr17 34360328 34363231 - CCL1 protein_coding This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014]. 6346 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0048020, GO:0008009, GO:0008009, CCR chemokine receptor binding, chemokine activity, chemokine activity, GO:0090026, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0050729, GO:0048247, GO:0048245, GO:0043547, GO:0032740, GO:0030593, GO:0016032, GO:0007204, GO:0007186, GO:0007186, GO:0007165, GO:0006954, GO:0006935, GO:0006874, GO:0002548, positive regulation of monocyte chemotaxis, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, positive regulation of inflammatory response, lymphocyte chemotaxis, eosinophil chemotaxis, positive regulation of GTPase activity, positive regulation of interleukin-17 production, neutrophil chemotaxis, viral process, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, cellular calcium ion homeostasis, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000108733 chr17 35574795 35578863 - PEX12 protein_coding This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]. 5193 GO:1990429, GO:0005779, GO:0005779, GO:0005779, GO:0005778, GO:0005778, GO:0005777, peroxisomal importomer complex, integral component of peroxisomal membrane, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0008270, GO:0008022, GO:0005515, GO:0004842, zinc ion binding, protein C-terminus binding, protein binding, ubiquitin-protein transferase activity, GO:0016567, GO:0016558, GO:0016558, GO:0016558, GO:0007031, GO:0006625, GO:0006625, GO:0006513, protein ubiquitination, protein import into peroxisome matrix, protein import into peroxisome matrix, protein import into peroxisome matrix, peroxisome organization, protein targeting to peroxisome, protein targeting to peroxisome, protein monoubiquitination, 51 50 49 14 10 16 15 15 10 ENSG00000108759 chr17 41459811 41467429 - KRT32 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. 3882 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, GO:0008544, cornification, keratinization, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000108771 chr17 42101404 42112733 - DHX58 protein_coding 79132 GO:0005737, cytoplasm, GO:0008270, GO:0008270, GO:0005524, GO:0005515, GO:0003727, GO:0003727, GO:0003725, GO:0003725, GO:0003724, GO:0003677, zinc ion binding, zinc ion binding, ATP binding, protein binding, single-stranded RNA binding, single-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, RNA helicase activity, DNA binding, GO:1900246, GO:1900245, GO:0051607, GO:0045824, GO:0045088, GO:0045087, GO:0039536, GO:0039536, GO:0039534, GO:0032728, GO:0032481, GO:0032480, GO:0016032, GO:0009617, GO:0009615, GO:0009615, positive regulation of RIG-I signaling pathway, positive regulation of MDA-5 signaling pathway, defense response to virus, negative regulation of innate immune response, regulation of innate immune response, innate immune response, negative regulation of RIG-I signaling pathway, negative regulation of RIG-I signaling pathway, negative regulation of MDA-5 signaling pathway, positive regulation of interferon-beta production, positive regulation of type I interferon production, negative regulation of type I interferon production, viral process, response to bacterium, response to virus, response to virus, 86 111 136 95 103 90 80 78 85 ENSG00000108773 chr17 42113108 42121358 - KAT2A protein_coding KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]. 2648 GO:0072686, GO:0045252, GO:0033276, GO:0030914, GO:0005813, GO:0005671, GO:0005654, GO:0005634, GO:0005615, GO:0000785, GO:0000123, mitotic spindle, oxoglutarate dehydrogenase complex, transcription factor TFTC complex, STAGA complex, centrosome, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, nucleus, extracellular space, chromatin, histone acetyltransferase complex, GO:0106229, GO:0106078, GO:0061733, GO:0043997, GO:0042826, GO:0019903, GO:0010484, GO:0008134, GO:0005515, GO:0004402, GO:0004402, GO:0003713, GO:0003682, histone glutaryltransferase activity, histone succinyltransferase activity, peptide-lysine-N-acetyltransferase activity, histone acetyltransferase activity (H4-K12 specific), histone deacetylase binding, protein phosphatase binding, H3 histone acetyltransferase activity, transcription factor binding, protein binding, histone acetyltransferase activity, histone acetyltransferase activity, transcription coactivator activity, chromatin binding, GO:2000727, GO:2000036, GO:1990090, GO:1903010, GO:0106227, GO:0106077, GO:0071929, GO:0071356, GO:0061035, GO:0060173, GO:0050863, GO:0048312, GO:0048167, GO:0046600, GO:0045944, GO:0045893, GO:0045815, GO:0045722, GO:0045589, GO:0044154, GO:0043983, GO:0043966, GO:0035264, GO:0035066, GO:0031667, GO:0031647, GO:0031346, GO:0030901, GO:0022037, GO:0021537, GO:0018393, GO:0016579, GO:0016578, GO:0016573, GO:0016032, GO:0014070, GO:0008283, GO:0007616, GO:0007507, GO:0006357, GO:0006338, GO:0001843, GO:0001816, GO:0001756, GO:0001701, positive regulation of cardiac muscle cell differentiation, regulation of stem cell population maintenance, cellular response to nerve growth factor stimulus, regulation of bone development, peptidyl-lysine glutarylation, histone succinylation, alpha-tubulin acetylation, cellular response to tumor necrosis factor, regulation of cartilage development, limb development, regulation of T cell activation, intracellular distribution of mitochondria, regulation of synaptic plasticity, negative regulation of centriole replication, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of gene expression, epigenetic, positive regulation of gluconeogenesis, regulation of regulatory T cell differentiation, histone H3-K14 acetylation, histone H4-K12 acetylation, histone H3 acetylation, multicellular organism growth, positive regulation of histone acetylation, response to nutrient levels, regulation of protein stability, positive regulation of cell projection organization, midbrain development, metencephalon development, telencephalon development, internal peptidyl-lysine acetylation, protein deubiquitination, histone deubiquitination, histone acetylation, viral process, response to organic cyclic compound, cell population proliferation, long-term memory, heart development, regulation of transcription by RNA polymerase II, chromatin remodeling, neural tube closure, cytokine production, somitogenesis, in utero embryonic development, 42 46 65 116 97 107 87 47 71 ENSG00000108774 chr17 42124976 42155044 - RAB5C protein_coding Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]. 5878 GO:0070062, GO:0042470, GO:0035577, GO:0031901, GO:0030139, GO:0012505, GO:0005886, GO:0005886, GO:0005811, GO:0005769, GO:0005768, GO:0005768, GO:0005765, extracellular exosome, melanosome, azurophil granule membrane, early endosome membrane, endocytic vesicle, endomembrane system, plasma membrane, plasma membrane, lipid droplet, early endosome, endosome, endosome, lysosomal membrane, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0048227, GO:0043312, GO:0030100, GO:0006897, GO:0006886, plasma membrane to endosome transport, neutrophil degranulation, regulation of endocytosis, endocytosis, intracellular protein transport, 846 881 966 414 838 521 508 713 436 ENSG00000108784 chr17 42536172 42544449 + NAGLU protein_coding This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]. 4669 GO:0070062, GO:0070062, GO:0043202, GO:0005764, extracellular exosome, extracellular exosome, lysosomal lumen, lysosome, GO:0004561, alpha-N-acetylglucosaminidase activity, GO:0060119, GO:0046548, GO:0045475, GO:0042474, GO:0021680, GO:0007399, GO:0007040, GO:0006027, inner ear receptor cell development, retinal rod cell development, locomotor rhythm, middle ear morphogenesis, cerebellar Purkinje cell layer development, nervous system development, lysosome organization, glycosaminoglycan catabolic process, 15 17 17 14 24 15 17 29 19 ENSG00000108785 chr17 42546764 42548706 + HSD17B1P1 unprocessed_pseudogene 28 22 21 45 36 51 26 27 16 ENSG00000108786 chr17 42549214 42555213 + HSD17B1 protein_coding This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 3292 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:1903924, GO:0072582, GO:0070401, GO:0050661, GO:0042803, GO:0035410, GO:0030283, GO:0005515, GO:0005496, GO:0004303, GO:0003824, estradiol binding, 17-beta-hydroxysteroid dehydrogenase (NADP+) activity, NADP+ binding, NADP binding, protein homodimerization activity, dihydrotestosterone 17-beta-dehydrogenase activity, testosterone dehydrogenase [NAD(P)] activity, protein binding, steroid binding, estradiol 17-beta-dehydrogenase activity, catalytic activity, GO:0061370, GO:0055114, GO:0008210, GO:0006703, GO:0006703, GO:0006703, GO:0006703, GO:0006694, testosterone biosynthetic process, oxidation-reduction process, estrogen metabolic process, estrogen biosynthetic process, estrogen biosynthetic process, estrogen biosynthetic process, estrogen biosynthetic process, steroid biosynthetic process, 135 107 123 62 147 109 109 118 95 ENSG00000108788 chr17 42567068 42573239 + MLX protein_coding The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 6945 GO:0031965, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear membrane, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046982, GO:0042803, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein heterodimerization activity, protein homodimerization activity, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045892, GO:0006357, GO:0006355, GO:0000122, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 416 492 437 310 511 421 303 478 328 ENSG00000108797 chr17 42682613 42699814 + CNTNAP1 protein_coding The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]. 8506 GO:0048787, GO:0033270, GO:0033010, GO:0016021, GO:0005887, presynaptic active zone membrane, paranode region of axon, paranodal junction, integral component of membrane, integral component of plasma membrane, GO:0038023, GO:0017124, GO:0005515, signaling receptor activity, SH3 domain binding, protein binding, GO:0071205, GO:0050885, GO:0050884, GO:0048812, GO:0048812, GO:0030913, GO:0030913, GO:0022011, GO:0022010, GO:0019227, GO:0007165, GO:0007155, GO:0007010, GO:0002175, protein localization to juxtaparanode region of axon, neuromuscular process controlling balance, neuromuscular process controlling posture, neuron projection morphogenesis, neuron projection morphogenesis, paranodal junction assembly, paranodal junction assembly, myelination in peripheral nervous system, central nervous system myelination, neuronal action potential propagation, signal transduction, cell adhesion, cytoskeleton organization, protein localization to paranode region of axon, 49 37 44 110 157 189 107 87 132 ENSG00000108798 chr17 49210227 49223225 + ABI3 protein_coding This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 51225 GO:0030027, GO:0030027, GO:0016020, GO:0005737, GO:0005737, GO:0005622, lamellipodium, lamellipodium, membrane, cytoplasm, cytoplasm, intracellular anatomical structure, GO:0042802, GO:0017124, GO:0005515, identical protein binding, SH3 domain binding, protein binding, GO:0030334, GO:0030334, GO:0018108, regulation of cell migration, regulation of cell migration, peptidyl-tyrosine phosphorylation, 396 505 403 358 586 519 442 472 397 ENSG00000108799 chr17 42700275 42745049 - EZH1 protein_coding EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]. 2145 GO:0035098, GO:0005654, GO:0000781, ESC/E(Z) complex, nucleoplasm, chromosome, telomeric region, GO:0031493, GO:0018024, GO:0003714, GO:0003682, GO:0003677, nucleosomal histone binding, histone-lysine N-methyltransferase activity, transcription corepressor activity, chromatin binding, DNA binding, GO:0070734, GO:0045944, GO:0031507, GO:0021766, GO:0009653, GO:0006348, GO:0006338, GO:0000122, histone H3-K27 methylation, positive regulation of transcription by RNA polymerase II, heterochromatin assembly, hippocampus development, anatomical structure morphogenesis, chromatin silencing at telomere, chromatin remodeling, negative regulation of transcription by RNA polymerase II, 1345 1565 1905 1620 1939 2039 1682 1495 1801 ENSG00000108813 chr17 49968970 49974959 + DLX4 protein_coding Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]. 1748 GO:0005654, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009790, GO:0007275, GO:0006357, GO:0006355, GO:0000122, GO:0000122, cell differentiation, embryo development, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 2 0 0 0 0 0 0 ENSG00000108819 chr17 50133735 50150630 - PPP1R9B protein_coding This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]. 84687 GO:1990780, GO:0044327, GO:0044326, GO:0043025, GO:0032587, GO:0030864, GO:0030426, GO:0030425, GO:0030175, GO:0030027, GO:0015629, GO:0014069, GO:0005912, GO:0005886, GO:0005737, GO:0005737, GO:0005654, GO:0000164, cytoplasmic side of dendritic spine plasma membrane, dendritic spine head, dendritic spine neck, neuronal cell body, ruffle membrane, cortical actin cytoskeleton, growth cone, dendrite, filopodium, lamellipodium, actin cytoskeleton, postsynaptic density, adherens junction, plasma membrane, cytoplasm, cytoplasm, nucleoplasm, protein phosphatase type 1 complex, GO:0051015, GO:0044325, GO:0031749, GO:0019900, GO:0008157, GO:0008022, GO:0005515, GO:0004864, GO:0004672, actin filament binding, ion channel binding, D2 dopamine receptor binding, kinase binding, protein phosphatase 1 binding, protein C-terminus binding, protein binding, protein phosphatase inhibitor activity, protein kinase activity, GO:2000474, GO:1990778, GO:1904386, GO:1904373, GO:1904372, GO:1903119, GO:1903078, GO:1901653, GO:0097338, GO:0071392, GO:0071364, GO:0071315, GO:0061458, GO:0060179, GO:0050804, GO:0048545, GO:0046847, GO:0042127, GO:0035902, GO:0035690, GO:0035094, GO:0034695, GO:0032515, GO:0031175, GO:0030308, GO:0030042, GO:0021987, GO:0021766, GO:0019722, GO:0016477, GO:0016358, GO:0008380, GO:0007612, GO:0007568, GO:0007096, GO:0007050, GO:0007015, GO:0006468, GO:0003006, GO:0001975, GO:0001932, GO:0001560, regulation of opioid receptor signaling pathway, protein localization to cell periphery, response to L-phenylalanine derivative, response to kainic acid, positive regulation of protein localization to actin cortical patch, protein localization to actin cytoskeleton, positive regulation of protein localization to plasma membrane, cellular response to peptide, response to clozapine, cellular response to estradiol stimulus, cellular response to epidermal growth factor stimulus, cellular response to morphine, reproductive system development, male mating behavior, modulation of chemical synaptic transmission, response to steroid hormone, filopodium assembly, regulation of cell population proliferation, response to immobilization stress, cellular response to drug, response to nicotine, response to prostaglandin E, negative regulation of phosphoprotein phosphatase activity, neuron projection development, negative regulation of cell growth, actin filament depolymerization, cerebral cortex development, hippocampus development, calcium-mediated signaling, cell migration, dendrite development, RNA splicing, learning, aging, regulation of exit from mitosis, cell cycle arrest, actin filament organization, protein phosphorylation, developmental process involved in reproduction, response to amphetamine, regulation of protein phosphorylation, regulation of cell growth by extracellular stimulus, 2889 3395 3892 1335 2375 1948 1786 2181 1854 ENSG00000108821 chr17 50183289 50201632 - COL1A1 protein_coding This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]. 1277 GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0030141, GO:0005794, GO:0005788, GO:0005737, GO:0005615, GO:0005615, GO:0005615, GO:0005584, GO:0005584, GO:0005584, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, secretory granule, Golgi apparatus, endoplasmic reticulum lumen, cytoplasm, extracellular space, extracellular space, extracellular space, collagen type I trimer, collagen type I trimer, collagen type I trimer, extracellular region, extracellular region, GO:0048407, GO:0046872, GO:0042802, GO:0030020, GO:0030020, GO:0030020, GO:0005515, GO:0005201, GO:0002020, platelet-derived growth factor binding, metal ion binding, identical protein binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, protease binding, GO:1902618, GO:0090263, GO:0071560, GO:0071364, GO:0071356, GO:0071306, GO:0071300, GO:0071260, GO:0071230, GO:0060351, GO:0060346, GO:0060325, GO:0055093, GO:0051591, GO:0050900, GO:0050776, GO:0048706, GO:0045893, GO:0044691, GO:0044344, GO:0043589, GO:0043588, GO:0043434, GO:0042542, GO:0042493, GO:0038063, GO:0034505, GO:0034504, GO:0032964, GO:0032355, GO:0031960, GO:0030335, GO:0030199, GO:0030198, GO:0030198, GO:0030168, GO:0015031, GO:0010812, GO:0010718, GO:0009612, GO:0007605, GO:0007601, GO:0007596, GO:0001958, GO:0001957, GO:0001649, GO:0001568, GO:0001568, GO:0001503, GO:0001501, GO:0001501, cellular response to fluoride, positive regulation of canonical Wnt signaling pathway, cellular response to transforming growth factor beta stimulus, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, cellular response to vitamin E, cellular response to retinoic acid, cellular response to mechanical stimulus, cellular response to amino acid stimulus, cartilage development involved in endochondral bone morphogenesis, bone trabecula formation, face morphogenesis, response to hyperoxia, response to cAMP, leukocyte migration, regulation of immune response, embryonic skeletal system development, positive regulation of transcription, DNA-templated, tooth eruption, cellular response to fibroblast growth factor stimulus, skin morphogenesis, skin development, response to peptide hormone, response to hydrogen peroxide, response to drug, collagen-activated tyrosine kinase receptor signaling pathway, tooth mineralization, protein localization to nucleus, collagen biosynthetic process, response to estradiol, response to corticosteroid, positive regulation of cell migration, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, platelet activation, protein transport, negative regulation of cell-substrate adhesion, positive regulation of epithelial to mesenchymal transition, response to mechanical stimulus, sensory perception of sound, visual perception, blood coagulation, endochondral ossification, intramembranous ossification, osteoblast differentiation, blood vessel development, blood vessel development, ossification, skeletal system development, skeletal system development, 11 8 9 7 2 10 13 6 4 ENSG00000108823 chr17 50164214 50175931 + SGCA protein_coding This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 6442 GO:0045121, GO:0042383, GO:0016021, GO:0016012, GO:0016010, GO:0005911, GO:0005856, GO:0005737, membrane raft, sarcolemma, integral component of membrane, sarcoglycan complex, dystrophin-associated glycoprotein complex, cell-cell junction, cytoskeleton, cytoplasm, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0043403, GO:0014894, GO:0007517, GO:0006936, skeletal muscle tissue regeneration, response to denervation involved in regulation of muscle adaptation, muscle organ development, muscle contraction, 0 0 2 0 0 2 5 1 0 ENSG00000108825 chr17 42950526 42980528 - PTGES3L-AARSD1 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, May 2012]. 100885850 0 0 0 0 0 0 0 0 0 ENSG00000108826 chr17 50367857 50373214 - MRPL27 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 51264 GO:0005762, GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 15 21 22 48 41 21 64 25 25 ENSG00000108828 chr17 43014605 43025123 - VAT1 protein_coding Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008]. 10493 GO:0070062, GO:0035578, GO:0016021, GO:0005741, GO:0005576, extracellular exosome, azurophil granule lumen, integral component of membrane, mitochondrial outer membrane, extracellular region, GO:0016491, GO:0008270, GO:0005515, oxidoreductase activity, zinc ion binding, protein binding, GO:0055114, GO:0043312, GO:0010637, oxidation-reduction process, neutrophil degranulation, negative regulation of mitochondrial fusion, 65 64 95 104 72 143 74 60 95 ENSG00000108829 chr17 50375059 50397553 - LRRC59 protein_coding 55379 GO:0042645, GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005635, mitochondrial nucleoid, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear envelope, GO:0045296, GO:0005515, GO:0003723, cadherin binding, protein binding, RNA binding, GO:0046579, GO:0007165, positive regulation of Ras protein signal transduction, signal transduction, 573 628 657 335 399 427 353 359 402 ENSG00000108830 chr17 43025241 43032036 + RND2 protein_coding This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008]. 8153 GO:0043231, GO:0042995, GO:0031410, GO:0005938, GO:0005886, GO:0005856, GO:0005769, GO:0002080, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, cell cortex, plasma membrane, cytoskeleton, early endosome, acrosomal membrane, GO:0047485, GO:0019901, GO:0005525, GO:0005515, GO:0003924, protein N-terminus binding, protein kinase binding, GTP binding, protein binding, GTPase activity, GO:0048672, GO:0032956, GO:0030865, GO:0016477, GO:0008360, GO:0007264, GO:0007165, GO:0007163, GO:0007015, positive regulation of collateral sprouting, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, cell migration, regulation of cell shape, small GTPase mediated signal transduction, signal transduction, establishment or maintenance of cell polarity, actin filament organization, 1 0 1 0 0 0 0 3 0 ENSG00000108839 chr17 6996065 7010736 + ALOX12 protein_coding This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]. 239 GO:0070062, GO:0042383, GO:0042383, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, sarcolemma, sarcolemma, membrane, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, GO:0050473, GO:0050473, GO:0047977, GO:0016702, GO:0016165, GO:0016165, GO:0005515, GO:0005506, GO:0004052, GO:0004052, arachidonate 15-lipoxygenase activity, arachidonate 15-lipoxygenase activity, hepoxilin-epoxide hydrolase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, linoleate 13S-lipoxygenase activity, linoleate 13S-lipoxygenase activity, protein binding, iron ion binding, arachidonate 12(S)-lipoxygenase activity, arachidonate 12(S)-lipoxygenase activity, GO:2001306, GO:2001303, GO:2001301, GO:1905956, GO:1901751, GO:1901751, GO:0097755, GO:0090331, GO:0071396, GO:0061436, GO:0051901, GO:0051122, GO:0051122, GO:0051121, GO:0048661, GO:0043651, GO:0043651, GO:0043651, GO:0043536, GO:0043280, GO:0042759, GO:0042554, GO:0034440, GO:0033559, GO:0019395, GO:0019395, GO:0019372, GO:0019372, GO:0019372, GO:0019369, GO:0019369, GO:0019369, GO:0010656, GO:0010628, GO:0007568, GO:0006629, lipoxin B4 biosynthetic process, lipoxin A4 biosynthetic process, lipoxin biosynthetic process, positive regulation of endothelial tube morphogenesis, leukotriene A4 metabolic process, leukotriene A4 metabolic process, positive regulation of blood vessel diameter, negative regulation of platelet aggregation, cellular response to lipid, establishment of skin barrier, positive regulation of mitochondrial depolarization, hepoxilin biosynthetic process, hepoxilin biosynthetic process, hepoxilin metabolic process, positive regulation of smooth muscle cell proliferation, linoleic acid metabolic process, linoleic acid metabolic process, linoleic acid metabolic process, positive regulation of blood vessel endothelial cell migration, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, long-chain fatty acid biosynthetic process, superoxide anion generation, lipid oxidation, unsaturated fatty acid metabolic process, fatty acid oxidation, fatty acid oxidation, lipoxygenase pathway, lipoxygenase pathway, lipoxygenase pathway, arachidonic acid metabolic process, arachidonic acid metabolic process, arachidonic acid metabolic process, negative regulation of muscle cell apoptotic process, positive regulation of gene expression, aging, lipid metabolic process, 246 225 308 261 464 484 402 324 471 ENSG00000108840 chr17 44076746 44123702 - HDAC5 protein_coding Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10014 GO:0016607, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0000118, nuclear speck, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, histone deacetylase complex, GO:0070491, GO:0046872, GO:0042826, GO:0042802, GO:0033558, GO:0032041, GO:0008134, GO:0005515, GO:0005080, GO:0004407, GO:0003682, GO:0001085, GO:0000978, GO:0000976, repressing transcription factor binding, metal ion binding, histone deacetylase binding, identical protein binding, protein deacetylase activity, NAD-dependent histone deacetylase activity (H3-K14 specific), transcription factor binding, protein binding, protein kinase C binding, histone deacetylase activity, chromatin binding, RNA polymerase II transcription factor binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000615, GO:0090051, GO:0071222, GO:0070932, GO:0051091, GO:0045944, GO:0045892, GO:0043393, GO:0042493, GO:0042220, GO:0042113, GO:0040029, GO:0032869, GO:0030183, GO:0030182, GO:0016575, GO:0014823, GO:0010832, GO:0010830, GO:0006954, GO:0006476, GO:0006342, GO:0006338, GO:0006325, GO:0000122, GO:0000122, regulation of histone H3-K9 acetylation, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to lipopolysaccharide, histone H3 deacetylation, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, regulation of protein binding, response to drug, response to cocaine, B cell activation, regulation of gene expression, epigenetic, cellular response to insulin stimulus, B cell differentiation, neuron differentiation, histone deacetylation, response to activity, negative regulation of myotube differentiation, regulation of myotube differentiation, inflammatory response, protein deacetylation, chromatin silencing, chromatin remodeling, chromatin organization, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2297 2865 2792 1454 1987 1722 1670 1548 1214 ENSG00000108846 chr17 50634777 50692252 + ABCC3 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 8714 GO:0016021, GO:0016020, GO:0005886, GO:0005886, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0042910, GO:0042626, GO:0016887, GO:0015432, GO:0008559, GO:0005524, xenobiotic transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase activity, ATPase-coupled bile acid transmembrane transporter activity, ATPase-coupled xenobiotic transmembrane transporter activity, ATP binding, GO:0150104, GO:0055085, GO:0055085, GO:0042908, GO:0015722, GO:0015721, GO:0006855, transport across blood-brain barrier, transmembrane transport, transmembrane transport, xenobiotic transport, canalicular bile acid transport, bile acid and bile salt transport, drug transmembrane transport, 2 1 4 1 5 9 4 7 9 ENSG00000108848 chr17 50719544 50756213 + LUC7L3 protein_coding This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]. 51747 GO:0071004, GO:0016607, GO:0005685, GO:0005654, GO:0005634, U2-type prespliceosome, nuclear speck, U1 snRNP, nucleoplasm, nucleus, GO:0005515, GO:0003729, GO:0003729, GO:0003723, GO:0003677, protein binding, mRNA binding, mRNA binding, RNA binding, DNA binding, GO:0008380, GO:0006376, RNA splicing, mRNA splice site selection, 1157 1264 1619 1518 1405 1671 1517 1122 1354 ENSG00000108849 chr17 43940804 43942468 - PPY protein_coding This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 5539 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0005515, GO:0005184, GO:0005179, GO:0001664, GO:0001664, protein binding, neuropeptide hormone activity, hormone activity, G protein-coupled receptor binding, G protein-coupled receptor binding, GO:0009306, GO:0007631, GO:0007218, GO:0007186, protein secretion, feeding behavior, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 1 0 ENSG00000108852 chr17 43875357 43909711 - MPP2 protein_coding Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]. 4355 GO:0043198, GO:0043197, GO:0032590, GO:0014069, GO:0005856, GO:0005737, dendritic shaft, dendritic spine, dendrite membrane, postsynaptic density, cytoskeleton, cytoplasm, GO:0005515, protein binding, GO:0060291, GO:0060079, GO:0051260, long-term synaptic potentiation, excitatory postsynaptic potential, protein homooligomerization, 4 0 10 13 5 5 13 0 5 ENSG00000108854 chr17 64542295 64662068 - SMURF2 protein_coding 64750 GO:0045121, GO:0016607, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000151, membrane raft, nuclear speck, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0046332, GO:0042802, GO:0005515, GO:0005160, GO:0004842, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, SMAD binding, identical protein binding, protein binding, transforming growth factor beta receptor binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:1901165, GO:0090263, GO:0060071, GO:0045892, GO:0045732, GO:0043161, GO:0030579, GO:0030579, GO:0030514, GO:0030512, GO:0030512, GO:0030509, GO:0017015, GO:0016579, GO:0016567, GO:0006511, GO:0000209, GO:0000209, GO:0000122, positive regulation of trophoblast cell migration, positive regulation of canonical Wnt signaling pathway, Wnt signaling pathway, planar cell polarity pathway, negative regulation of transcription, DNA-templated, positive regulation of protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, ubiquitin-dependent SMAD protein catabolic process, ubiquitin-dependent SMAD protein catabolic process, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, regulation of transforming growth factor beta receptor signaling pathway, protein deubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 419 374 547 364 402 436 391 311 348 ENSG00000108861 chr17 43766121 43778988 - DUSP3 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008]. 1845 GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0001772, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, immunological synapse, GO:1990782, GO:0106307, GO:0106306, GO:0033549, GO:0033549, GO:0030971, GO:0019901, GO:0016791, GO:0008138, GO:0008138, GO:0008092, GO:0005515, GO:0004725, GO:0004725, protein tyrosine kinase binding, protein threonine phosphatase activity, protein serine phosphatase activity, MAP kinase phosphatase activity, MAP kinase phosphatase activity, receptor tyrosine kinase binding, protein kinase binding, phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, cytoskeletal protein binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1990264, GO:0120183, GO:0071364, GO:0070373, GO:0070373, GO:0051893, GO:0050922, GO:0050868, GO:0050868, GO:0050860, GO:0050860, GO:0046329, GO:0046329, GO:0046329, GO:0045931, GO:0045931, GO:0043409, GO:0042059, GO:0035335, GO:0035335, GO:0030336, GO:0016311, GO:0000188, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, positive regulation of focal adhesion disassembly, cellular response to epidermal growth factor stimulus, negative regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, regulation of focal adhesion assembly, negative regulation of chemotaxis, negative regulation of T cell activation, negative regulation of T cell activation, negative regulation of T cell receptor signaling pathway, negative regulation of T cell receptor signaling pathway, negative regulation of JNK cascade, negative regulation of JNK cascade, negative regulation of JNK cascade, positive regulation of mitotic cell cycle, positive regulation of mitotic cell cycle, negative regulation of MAPK cascade, negative regulation of epidermal growth factor receptor signaling pathway, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, negative regulation of cell migration, dephosphorylation, inactivation of MAPK activity, 177 133 140 163 168 123 221 116 122 ENSG00000108878 chr17 67044590 67056797 + CACNG1 protein_coding Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]. 786 GO:1990454, GO:1990454, GO:0042383, GO:0030315, GO:0005887, GO:0005886, L-type voltage-gated calcium channel complex, L-type voltage-gated calcium channel complex, sarcolemma, T-tubule, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005246, GO:0005246, GO:0005245, protein binding, calcium channel regulator activity, calcium channel regulator activity, voltage-gated calcium channel activity, GO:1902514, GO:1902514, GO:0070588, GO:0070296, GO:0061337, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, calcium ion transmembrane transport, sarcoplasmic reticulum calcium ion transport, cardiac conduction, 0 0 0 0 3 0 0 0 0 ENSG00000108883 chr17 44849943 44899662 - EFTUD2 protein_coding This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 9343 GO:1990904, GO:0071013, GO:0071007, GO:0071007, GO:0071005, GO:0046540, GO:0046540, GO:0043231, GO:0016607, GO:0016020, GO:0015030, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, intracellular membrane-bounded organelle, nuclear speck, membrane, Cajal body, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0030623, GO:0005525, GO:0005515, GO:0003924, GO:0003723, U5 snRNA binding, GTP binding, protein binding, GTPase activity, RNA binding, GO:0042220, GO:0035690, GO:0000398, GO:0000398, GO:0000398, response to cocaine, cellular response to drug, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 189 214 200 162 155 200 204 139 169 ENSG00000108924 chr17 55265012 55325065 + HLF protein_coding This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 3131 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0043565, GO:0003690, GO:0003677, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, double-stranded DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048511, GO:0045944, GO:0035914, GO:0007275, GO:0006357, rhythmic process, positive regulation of transcription by RNA polymerase II, skeletal muscle cell differentiation, multicellular organism development, regulation of transcription by RNA polymerase II, 6 4 7 9 2 2 9 2 2 ENSG00000108932 chr17 68267026 68291267 - SLC16A6 protein_coding 9120 GO:0016021, GO:0016020, GO:0005887, integral component of membrane, membrane, integral component of plasma membrane, GO:0015293, GO:0008028, GO:0005515, symporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, GO:0055085, GO:0015718, transmembrane transport, monocarboxylic acid transport, 944 967 2475 142 397 439 189 304 411 ENSG00000108946 chr17 68511780 68551319 + PRKAR1A protein_coding cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]. 5573 GO:0098978, GO:0097546, GO:0097224, GO:0044853, GO:0032991, GO:0031594, GO:0031588, GO:0016020, GO:0005952, GO:0005930, GO:0005829, GO:0005813, GO:0005771, GO:0005737, GO:0001772, glutamatergic synapse, ciliary base, sperm connecting piece, plasma membrane raft, protein-containing complex, neuromuscular junction, nucleotide-activated protein kinase complex, membrane, cAMP-dependent protein kinase complex, axoneme, cytosol, centrosome, multivesicular body, cytoplasm, immunological synapse, GO:0034236, GO:0031625, GO:0030552, GO:0019904, GO:0008603, GO:0008603, GO:0005515, GO:0004862, protein kinase A catalytic subunit binding, ubiquitin protein ligase binding, cAMP binding, protein domain specific binding, cAMP-dependent protein kinase regulator activity, cAMP-dependent protein kinase regulator activity, protein binding, cAMP-dependent protein kinase inhibitor activity, GO:2000480, GO:0071377, GO:0060038, GO:0046007, GO:0045835, GO:0045214, GO:0043949, GO:0035556, GO:0034199, GO:0010738, GO:0007596, GO:0007143, GO:0006357, GO:0003091, GO:0001707, negative regulation of cAMP-dependent protein kinase activity, cellular response to glucagon stimulus, cardiac muscle cell proliferation, negative regulation of activated T cell proliferation, negative regulation of meiotic nuclear division, sarcomere organization, regulation of cAMP-mediated signaling, intracellular signal transduction, activation of protein kinase A activity, regulation of protein kinase A signaling, blood coagulation, female meiotic nuclear division, regulation of transcription by RNA polymerase II, renal water homeostasis, mesoderm formation, 6220 6079 6727 1592 3660 2502 2162 3447 2348 ENSG00000108947 chr17 7705202 7711378 + EFNB3 protein_coding EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]. 1949 GO:0099061, GO:0099056, GO:0098978, GO:0098686, GO:0005887, GO:0005886, GO:0005886, GO:0005886, integral component of postsynaptic density membrane, integral component of presynaptic membrane, glutamatergic synapse, hippocampal mossy fiber to CA3 synapse, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0046875, GO:0046875, GO:0046875, GO:0005515, GO:0005005, GO:0001618, ephrin receptor binding, ephrin receptor binding, ephrin receptor binding, protein binding, transmembrane-ephrin receptor activity, virus receptor activity, GO:0099557, GO:0050771, GO:0048013, GO:0048013, GO:0048013, GO:0046718, GO:0031295, GO:0016198, GO:0007628, GO:0007411, GO:0007399, GO:0007267, trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission, negative regulation of axonogenesis, ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, viral entry into host cell, T cell costimulation, axon choice point recognition, adult walking behavior, axon guidance, nervous system development, cell-cell signaling, 0 0 0 0 0 0 0 0 0 ENSG00000108950 chr17 68535113 68601389 - FAM20A protein_coding This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]. 54757 GO:0070062, GO:0005794, GO:0005794, GO:0005783, GO:0005737, GO:0005615, extracellular exosome, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, cytoplasm, extracellular space, GO:0043539, GO:0043539, GO:0016773, GO:0005515, GO:0004674, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, phosphotransferase activity, alcohol group as acceptor, protein binding, protein serine/threonine kinase activity, GO:0071902, GO:0070166, GO:0070166, GO:0055074, GO:0044691, GO:0031214, GO:0009617, GO:0006468, GO:0001934, GO:0001934, positive regulation of protein serine/threonine kinase activity, enamel mineralization, enamel mineralization, calcium ion homeostasis, tooth eruption, biomineral tissue development, response to bacterium, protein phosphorylation, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, 47 38 55 38 52 38 32 50 38 ENSG00000108953 chr17 1344272 1400378 - YWHAE protein_coding This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]. 7531 GO:0098978, GO:0090724, GO:0070062, GO:0042470, GO:0016020, GO:0005925, GO:0005886, GO:0005871, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005634, glutamatergic synapse, central region of growth cone, extracellular exosome, melanosome, membrane, focal adhesion, plasma membrane, kinesin complex, cytosol, cytosol, mitochondrion, cytoplasm, nucleus, GO:0097110, GO:0051219, GO:0050815, GO:0046982, GO:0045296, GO:0044325, GO:0042826, GO:0042802, GO:0031625, GO:0023026, GO:0019904, GO:0019903, GO:0019899, GO:0015459, GO:0005515, GO:0005246, GO:0003723, scaffold protein binding, phosphoprotein binding, phosphoserine residue binding, protein heterodimerization activity, cadherin binding, ion channel binding, histone deacetylase binding, identical protein binding, ubiquitin protein ligase binding, MHC class II protein complex binding, protein domain specific binding, protein phosphatase binding, enzyme binding, potassium channel regulator activity, protein binding, calcium channel regulator activity, RNA binding, GO:1905913, GO:1902309, GO:1901020, GO:1901016, GO:1900740, GO:1900034, GO:0099072, GO:0097711, GO:0086091, GO:0086013, GO:0061024, GO:0060306, GO:0051480, GO:0046827, GO:0043154, GO:0035556, GO:0035329, GO:0034605, GO:0034504, GO:0021987, GO:0021766, GO:0021762, GO:0016032, GO:0010389, GO:0006605, GO:0003064, GO:0001764, GO:0000165, GO:0000086, negative regulation of calcium ion export across plasma membrane, negative regulation of peptidyl-serine dephosphorylation, negative regulation of calcium ion transmembrane transporter activity, regulation of potassium ion transmembrane transporter activity, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, regulation of cellular response to heat, regulation of postsynaptic membrane neurotransmitter receptor levels, ciliary basal body-plasma membrane docking, regulation of heart rate by cardiac conduction, membrane repolarization during cardiac muscle cell action potential, membrane organization, regulation of membrane repolarization, regulation of cytosolic calcium ion concentration, positive regulation of protein export from nucleus, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, intracellular signal transduction, hippo signaling, cellular response to heat, protein localization to nucleus, cerebral cortex development, hippocampus development, substantia nigra development, viral process, regulation of G2/M transition of mitotic cell cycle, protein targeting, regulation of heart rate by hormone, neuron migration, MAPK cascade, G2/M transition of mitotic cell cycle, 17 12 17 9 11 15 5 8 4 ENSG00000108958 chr17 1858039 1858446 - AC130689.1 processed_pseudogene 20 1 5 5 10 6 2 2 0 ENSG00000108960 chr17 55392613 55421992 - MMD protein_coding This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]. 23531 GO:0031902, GO:0016020, GO:0005887, GO:0005794, GO:0005765, late endosome membrane, membrane, integral component of plasma membrane, Golgi apparatus, lysosomal membrane, GO:0038023, GO:0005515, GO:0004672, signaling receptor activity, protein binding, protein kinase activity, GO:0045860, GO:0045666, GO:0032880, GO:0019835, GO:0006468, positive regulation of protein kinase activity, positive regulation of neuron differentiation, regulation of protein localization, cytolysis, protein phosphorylation, 11 11 27 10 19 26 21 16 8 ENSG00000108961 chr17 8288497 8290092 + RANGRF protein_coding This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. 29098 GO:0048471, GO:0014704, GO:0005901, GO:0005886, GO:0005829, GO:0005791, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, intercalated disc, caveola, plasma membrane, cytosol, rough endoplasmic reticulum, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0044325, GO:0031267, GO:0031267, GO:0017080, GO:0017080, GO:0005085, ion channel binding, small GTPase binding, small GTPase binding, sodium channel regulator activity, sodium channel regulator activity, guanyl-nucleotide exchange factor activity, GO:2000649, GO:2000649, GO:2000010, GO:2000010, GO:1903078, GO:1902305, GO:1902305, GO:1900825, GO:1900825, GO:0098909, GO:0098905, GO:0090226, GO:0042391, GO:0032527, GO:0006888, GO:0003254, GO:0003254, GO:0002027, regulation of sodium ion transmembrane transporter activity, regulation of sodium ion transmembrane transporter activity, positive regulation of protein localization to cell surface, positive regulation of protein localization to cell surface, positive regulation of protein localization to plasma membrane, regulation of sodium ion transmembrane transport, regulation of sodium ion transmembrane transport, regulation of membrane depolarization during cardiac muscle cell action potential, regulation of membrane depolarization during cardiac muscle cell action potential, regulation of cardiac muscle cell action potential involved in regulation of contraction, regulation of bundle of His cell action potential, regulation of microtubule nucleation by Ran protein signal transduction, regulation of membrane potential, protein exit from endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, regulation of membrane depolarization, regulation of membrane depolarization, regulation of heart rate, 20 15 25 34 41 79 33 16 45 ENSG00000108963 chr17 2030110 2043430 + DPH1 protein_coding The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]. 1801 GO:0030054, GO:0005829, GO:0005654, cell junction, cytosol, nucleoplasm, GO:0016740, GO:0005515, transferase activity, protein binding, GO:0017183, GO:0017183, GO:0017183, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, 9 9 28 265 318 334 176 148 233 ENSG00000108984 chr17 69414698 69553861 + MAP2K6 protein_coding This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]. 5608 GO:0005856, GO:0005829, GO:0005829, GO:0005654, GO:0005654, cytoskeleton, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0019901, GO:0005524, GO:0005515, GO:0004713, GO:0004708, GO:0004708, GO:0004708, GO:0004674, protein kinase binding, ATP binding, protein binding, protein tyrosine kinase activity, MAP kinase kinase activity, MAP kinase kinase activity, MAP kinase kinase activity, protein serine/threonine kinase activity, GO:0120163, GO:0072709, GO:0070423, GO:0060048, GO:0051770, GO:0043065, GO:0042493, GO:0032308, GO:0022602, GO:0018108, GO:0007165, GO:0007050, GO:0006975, GO:0006915, GO:0002931, GO:0000187, GO:0000187, GO:0000187, GO:0000165, negative regulation of cold-induced thermogenesis, cellular response to sorbitol, nucleotide-binding oligomerization domain containing signaling pathway, cardiac muscle contraction, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of apoptotic process, response to drug, positive regulation of prostaglandin secretion, ovulation cycle process, peptidyl-tyrosine phosphorylation, signal transduction, cell cycle arrest, DNA damage induced protein phosphorylation, apoptotic process, response to ischemia, activation of MAPK activity, activation of MAPK activity, activation of MAPK activity, MAPK cascade, 69 89 129 99 65 155 91 72 143 ENSG00000109016 chr17 21123364 21193265 + DHRS7B protein_coding This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]. 25979 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0016491, GO:0003674, oxidoreductase activity, molecular_function, GO:0055114, GO:0008150, oxidation-reduction process, biological_process, 65 64 65 52 107 107 78 72 74 ENSG00000109046 chr17 27294076 27315926 + WSB1 protein_coding This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 26118 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0035556, GO:0008150, GO:0000209, post-translational protein modification, intracellular signal transduction, biological_process, protein polyubiquitination, 3289 3339 5298 6129 7309 7673 6913 5017 5570 ENSG00000109047 chr17 9896320 9905621 - RCVRN protein_coding This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]. 5957 GO:0043204, GO:0030425, GO:0016020, GO:0001917, GO:0001750, perikaryon, dendrite, membrane, photoreceptor inner segment, photoreceptor outer segment, GO:0008048, GO:0005509, calcium sensitive guanylate cyclase activator activity, calcium ion binding, GO:0051924, GO:0031284, GO:0007602, GO:0007601, GO:0007165, regulation of calcium ion transport, positive regulation of guanylate cyclase activity, phototransduction, visual perception, signal transduction, 2 10 8 20 29 20 26 19 18 ENSG00000109061 chr17 10492307 10518543 - MYH1 protein_coding Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]. 4619 GO:0036464, GO:0032982, GO:0031672, GO:0014704, GO:0005859, cytoplasmic ribonucleoprotein granule, myosin filament, A band, intercalated disc, muscle myosin complex, GO:0051015, GO:0005524, GO:0005516, GO:0005515, GO:0003774, actin filament binding, ATP binding, calmodulin binding, protein binding, motor activity, GO:0006936, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000109062 chr17 74748652 74769353 + SLC9A3R1 protein_coding This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]. 9368 GO:0098797, GO:0097225, GO:0071944, GO:0070062, GO:0048471, GO:0045121, GO:0032426, GO:0031982, GO:0031528, GO:0031526, GO:0030175, GO:0016324, GO:0016324, GO:0016020, GO:0015629, GO:0012505, GO:0005902, GO:0005737, GO:0005634, GO:0001726, plasma membrane protein complex, sperm midpiece, cell periphery, extracellular exosome, perinuclear region of cytoplasm, membrane raft, stereocilium tip, vesicle, microvillus membrane, brush border membrane, filopodium, apical plasma membrane, apical plasma membrane, membrane, actin cytoskeleton, endomembrane system, microvillus, cytoplasm, nucleus, ruffle, GO:0070851, GO:0050780, GO:0047485, GO:0045159, GO:0044877, GO:0043621, GO:0043495, GO:0031800, GO:0031799, GO:0031698, GO:0030165, GO:0019902, GO:0017081, GO:0015185, GO:0008013, GO:0005515, GO:0005102, GO:0005102, growth factor receptor binding, dopamine receptor binding, protein N-terminus binding, myosin II binding, protein-containing complex binding, protein self-association, protein-membrane adaptor activity, type 3 metabotropic glutamate receptor binding, type 2 metabotropic glutamate receptor binding, beta-2 adrenergic receptor binding, PDZ domain binding, phosphatase binding, chloride channel regulator activity, gamma-aminobutyric acid transmembrane transporter activity, beta-catenin binding, protein binding, signaling receptor binding, signaling receptor binding, GO:2001244, GO:0150104, GO:0098739, GO:0097291, GO:0090660, GO:0090090, GO:0072659, GO:0072659, GO:0070373, GO:0070293, GO:0065003, GO:0060158, GO:0060088, GO:0051939, GO:0051898, GO:0051683, GO:0045930, GO:0045859, GO:0045199, GO:0045199, GO:0045198, GO:0044782, GO:0044062, GO:0034767, GO:0034635, GO:0032782, GO:0032416, GO:0032415, GO:0030643, GO:0030336, GO:0030036, GO:0030033, GO:0022612, GO:0016055, GO:0014067, GO:0010642, GO:0008361, GO:0008360, GO:0008285, GO:0008285, GO:0007605, GO:0007191, GO:0007097, GO:0007009, GO:0003096, GO:0002009, positive regulation of intrinsic apoptotic signaling pathway, transport across blood-brain barrier, import across plasma membrane, renal phosphate ion absorption, cerebrospinal fluid circulation, negative regulation of canonical Wnt signaling pathway, protein localization to plasma membrane, protein localization to plasma membrane, negative regulation of ERK1 and ERK2 cascade, renal absorption, protein-containing complex assembly, phospholipase C-activating dopamine receptor signaling pathway, auditory receptor cell stereocilium organization, gamma-aminobutyric acid import, negative regulation of protein kinase B signaling, establishment of Golgi localization, negative regulation of mitotic cell cycle, regulation of protein kinase activity, maintenance of epithelial cell apical/basal polarity, maintenance of epithelial cell apical/basal polarity, establishment of epithelial cell apical/basal polarity, cilium organization, regulation of excretion, positive regulation of ion transmembrane transport, glutathione transport, bile acid secretion, negative regulation of sodium:proton antiporter activity, regulation of sodium:proton antiporter activity, cellular phosphate ion homeostasis, negative regulation of cell migration, actin cytoskeleton organization, microvillus assembly, gland morphogenesis, Wnt signaling pathway, negative regulation of phosphatidylinositol 3-kinase signaling, negative regulation of platelet-derived growth factor receptor signaling pathway, regulation of cell size, regulation of cell shape, negative regulation of cell population proliferation, negative regulation of cell population proliferation, sensory perception of sound, adenylate cyclase-activating dopamine receptor signaling pathway, nuclear migration, plasma membrane organization, renal sodium ion transport, morphogenesis of an epithelium, 1709 2225 2143 1257 2098 1585 1405 1865 1522 ENSG00000109063 chr17 10628526 10657309 - MYH3 protein_coding Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]. 4621 GO:0070062, GO:0032982, GO:0030017, GO:0005859, GO:0005829, extracellular exosome, myosin filament, sarcomere, muscle myosin complex, cytosol, GO:0051015, GO:0017018, GO:0016887, GO:0005524, GO:0005516, GO:0000146, GO:0000146, actin filament binding, myosin phosphatase activity, ATPase activity, ATP binding, calmodulin binding, microfilament motor activity, microfilament motor activity, GO:0060325, GO:0046034, GO:0045214, GO:0030326, GO:0030049, GO:0030048, GO:0007517, GO:0006470, GO:0003009, face morphogenesis, ATP metabolic process, sarcomere organization, embryonic limb morphogenesis, muscle filament sliding, actin filament-based movement, muscle organ development, protein dephosphorylation, skeletal muscle contraction, 21 16 30 71 38 40 40 23 8 ENSG00000109065 chr17 74770547 74776367 - NAT9 protein_coding 26151 GO:0032991, protein-containing complex, GO:0008080, GO:0005515, N-acetyltransferase activity, protein binding, GO:0006473, protein acetylation, 118 144 121 346 197 233 365 262 164 ENSG00000109066 chr17 74776483 74839779 + TMEM104 protein_coding 54868 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 139 155 203 78 101 189 160 85 127 ENSG00000109072 chr17 28367276 28373091 - VTN protein_coding The protein encoded by this gene functions in part as an adhesive glycoprotein. Differential expression of this protein can promote either cell adhesion or migration as it links cells to the extracellular matrix through a variety of ligands. These ligands include integrins, plasminogen activator inhibitor-1, and urokinase plasminogen activator receptor. This secreted protein can be present in the plasma as a monomer or dimer and forms a multimer in the extracellular matrix of several tissues. This protein also inhibits the membrane-damaging effect of the terminal cytolytic complement pathway and binds to several serpin serine protease inhibitors. This protein can also promote extracellular matrix degradation and thus plays a role in tumorigenesis. It is involved in a variety of other biological processes such as the regulation of the coagulation pathway, wound healing, and tissue remodeling. The heparin-binding domain of this protein give it anti-microbial properties. It is also a lipid binding protein that forms a principal component of high density lipoprotein. [provided by RefSeq, Aug 2020]. 7448 GO:0072562, GO:0071062, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0043231, GO:0005783, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, blood microparticle, alphav-beta3 integrin-vitronectin complex, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, endoplasmic reticulum, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0030247, GO:0008201, GO:0005515, GO:0005201, GO:0005201, GO:0005178, GO:0005178, GO:0005044, polysaccharide binding, heparin binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, integrin binding, integrin binding, scavenger receptor activity, GO:0090303, GO:0061302, GO:0050731, GO:0048260, GO:0035987, GO:0033627, GO:0032092, GO:0030949, GO:0030449, GO:0030198, GO:0030195, GO:0016477, GO:0014911, GO:0010951, GO:0007160, GO:0007160, GO:0007155, GO:0006955, GO:0006897, positive regulation of wound healing, smooth muscle cell-matrix adhesion, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of receptor-mediated endocytosis, endodermal cell differentiation, cell adhesion mediated by integrin, positive regulation of protein binding, positive regulation of vascular endothelial growth factor receptor signaling pathway, regulation of complement activation, extracellular matrix organization, negative regulation of blood coagulation, cell migration, positive regulation of smooth muscle cell migration, negative regulation of endopeptidase activity, cell-matrix adhesion, cell-matrix adhesion, cell adhesion, immune response, endocytosis, 4 3 2 1 9 8 1 6 2 ENSG00000109079 chr17 28335602 28347009 + TNFAIP1 protein_coding This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]. 7126 GO:0031463, GO:0031463, GO:0005768, GO:0005737, GO:0005634, Cul3-RING ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, endosome, cytoplasm, nucleus, GO:0042802, GO:0031267, GO:0031267, GO:0005515, GO:0004842, GO:0004842, identical protein binding, small GTPase binding, small GTPase binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0051260, GO:0045740, GO:0043161, GO:0043161, GO:0043149, GO:0035024, GO:0035024, GO:0016567, GO:0016567, GO:0016567, GO:0016477, GO:0006955, GO:0006915, GO:0006260, protein homooligomerization, positive regulation of DNA replication, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, stress fiber assembly, negative regulation of Rho protein signal transduction, negative regulation of Rho protein signal transduction, protein ubiquitination, protein ubiquitination, protein ubiquitination, cell migration, immune response, apoptotic process, DNA replication, 89 118 126 107 101 122 58 86 96 ENSG00000109083 chr17 28328325 28335489 - IFT20 protein_coding This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012]. 90410 GO:1902636, GO:0097546, GO:0097542, GO:0044292, GO:0032420, GO:0032391, GO:0031514, GO:0030992, GO:0030992, GO:0005929, GO:0005929, GO:0005929, GO:0005902, GO:0005814, GO:0005813, GO:0005813, GO:0005801, GO:0005794, GO:0005794, GO:0001750, GO:0000139, kinociliary basal body, ciliary base, ciliary tip, dendrite terminus, stereocilium, photoreceptor connecting cilium, motile cilium, intraciliary transport particle B, intraciliary transport particle B, cilium, cilium, cilium, microvillus, centriole, centrosome, centrosome, cis-Golgi network, Golgi apparatus, Golgi apparatus, photoreceptor outer segment, Golgi membrane, GO:0031267, GO:0005515, GO:0002046, small GTPase binding, protein binding, opsin binding, GO:2000785, GO:2000583, GO:1902017, GO:0090102, GO:0072659, GO:0061512, GO:0061351, GO:0060828, GO:0060271, GO:0060122, GO:0055007, GO:0051642, GO:0045198, GO:0042073, GO:0036372, GO:0035845, GO:0035735, GO:0034067, GO:0008542, GO:0007283, GO:0007224, GO:0001822, GO:0001736, regulation of autophagosome assembly, regulation of platelet-derived growth factor receptor-alpha signaling pathway, regulation of cilium assembly, cochlea development, protein localization to plasma membrane, protein localization to cilium, neural precursor cell proliferation, regulation of canonical Wnt signaling pathway, cilium assembly, inner ear receptor cell stereocilium organization, cardiac muscle cell differentiation, centrosome localization, establishment of epithelial cell apical/basal polarity, intraciliary transport, opsin transport, photoreceptor cell outer segment organization, intraciliary transport involved in cilium assembly, protein localization to Golgi apparatus, visual learning, spermatogenesis, smoothened signaling pathway, kidney development, establishment of planar polarity, 205 166 207 100 147 162 102 140 138 ENSG00000109084 chr17 28319095 28328685 + TMEM97 protein_coding TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]. 27346 GO:0031965, GO:0030867, GO:0016021, GO:0005886, GO:0005791, GO:0005783, GO:0005783, GO:0005764, nuclear membrane, rough endoplasmic reticulum membrane, integral component of membrane, plasma membrane, rough endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, lysosome, GO:0005515, protein binding, GO:0042632, GO:0001558, cholesterol homeostasis, regulation of cell growth, 41 19 40 16 64 36 40 31 43 ENSG00000109089 chr17 74987632 75005800 + CDR2L protein_coding 30850 GO:0042802, GO:0005515, identical protein binding, protein binding, 0 0 1 0 0 0 0 0 0 ENSG00000109099 chr17 15229777 15265357 - PMP22 protein_coding This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 5376 GO:0045202, GO:0016021, GO:0005886, GO:0005886, synapse, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0032288, GO:0032060, GO:0008219, GO:0007422, GO:0007268, myelin assembly, bleb assembly, cell death, peripheral nervous system development, chemical synaptic transmission, 3 3 10 0 0 0 1 0 0 ENSG00000109101 chr17 28506243 28538896 + FOXN1 protein_coding Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]. 8456 GO:0005634, GO:0000785, nucleus, chromatin, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000976, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, GO:1902232, GO:0097536, GO:0097535, GO:0051798, GO:0048514, GO:0045944, GO:0043029, GO:0035878, GO:0030858, GO:0030216, GO:0009887, GO:0008544, GO:0006952, GO:0006357, GO:0006357, GO:0002360, GO:0001942, regulation of positive thymic T cell selection, thymus epithelium morphogenesis, lymphoid lineage cell migration into thymus, positive regulation of hair follicle development, blood vessel morphogenesis, positive regulation of transcription by RNA polymerase II, T cell homeostasis, nail development, positive regulation of epithelial cell differentiation, keratinocyte differentiation, animal organ morphogenesis, epidermis development, defense response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, T cell lineage commitment, hair follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000109103 chr17 28546707 28552668 - UNC119 protein_coding This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 9094 GO:0051233, GO:0051233, GO:0045202, GO:0045171, GO:0045171, GO:0005829, GO:0005813, GO:0005813, GO:0000922, GO:0000922, spindle midzone, spindle midzone, synapse, intercellular bridge, intercellular bridge, cytosol, centrosome, centrosome, spindle pole, spindle pole, GO:0008289, GO:0008289, GO:0005515, lipid binding, lipid binding, protein binding, GO:2001287, GO:2001287, GO:1900186, GO:1900186, GO:0061098, GO:0061098, GO:0042953, GO:0042953, GO:0007602, GO:0007601, GO:0007399, GO:0007268, GO:0006897, GO:0000281, GO:0000281, negative regulation of caveolin-mediated endocytosis, negative regulation of caveolin-mediated endocytosis, negative regulation of clathrin-dependent endocytosis, negative regulation of clathrin-dependent endocytosis, positive regulation of protein tyrosine kinase activity, positive regulation of protein tyrosine kinase activity, lipoprotein transport, lipoprotein transport, phototransduction, visual perception, nervous system development, chemical synaptic transmission, endocytosis, mitotic cytokinesis, mitotic cytokinesis, 1442 1349 1963 1119 1575 1585 1282 1193 1174 ENSG00000109107 chr17 28573115 28577264 - ALDOC protein_coding This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008]. 230 GO:1904813, GO:1904724, GO:0070062, GO:0034774, GO:0005856, GO:0005829, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, secretory granule lumen, cytoskeleton, cytosol, cytosol, extracellular region, GO:0008092, GO:0005515, GO:0004332, GO:0004332, cytoskeletal protein binding, protein binding, fructose-bisphosphate aldolase activity, fructose-bisphosphate aldolase activity, GO:0061621, GO:0043312, GO:0030855, GO:0030388, GO:0030388, GO:0006096, GO:0006094, GO:0006000, canonical glycolysis, neutrophil degranulation, epithelial cell differentiation, fructose 1,6-bisphosphate metabolic process, fructose 1,6-bisphosphate metabolic process, glycolytic process, gluconeogenesis, fructose metabolic process, 140 108 127 91 81 79 102 71 60 ENSG00000109111 chr17 28662091 28702684 + SUPT6H protein_coding 6830 GO:0035327, GO:0008023, GO:0005654, transcriptionally active chromatin, transcription elongation factor complex, nucleoplasm, GO:0042393, GO:0042393, GO:0031491, GO:0005515, GO:0003723, GO:0003677, histone binding, histone binding, nucleosome binding, protein binding, RNA binding, DNA binding, GO:0070827, GO:0061086, GO:0051147, GO:0051028, GO:0050684, GO:0050684, GO:0045191, GO:0042789, GO:0034728, GO:0032968, GO:0032968, GO:0016032, GO:0010793, GO:0008380, GO:0006397, GO:0006368, GO:0006368, GO:0006366, GO:0001825, chromatin maintenance, negative regulation of histone H3-K27 methylation, regulation of muscle cell differentiation, mRNA transport, regulation of mRNA processing, regulation of mRNA processing, regulation of isotype switching, mRNA transcription by RNA polymerase II, nucleosome organization, positive regulation of transcription elongation from RNA polymerase II promoter, positive regulation of transcription elongation from RNA polymerase II promoter, viral process, regulation of mRNA export from nucleus, RNA splicing, mRNA processing, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, blastocyst formation, 5552 4776 7291 3615 3077 3317 3238 2158 2010 ENSG00000109113 chr17 28714281 28718429 - RAB34 protein_coding This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]. 83871 GO:0070062, GO:0048471, GO:0045335, GO:0032587, GO:0031985, GO:0031982, GO:0030670, GO:0005929, GO:0005795, GO:0005794, extracellular exosome, perinuclear region of cytoplasm, phagocytic vesicle, ruffle membrane, Golgi cisterna, vesicle, phagocytic vesicle membrane, cilium, Golgi stack, Golgi apparatus, GO:0031267, GO:0030742, GO:0005525, GO:0005515, GO:0003924, small GTPase binding, GTP-dependent protein binding, GTP binding, protein binding, GTPase activity, GO:0090385, GO:0090385, GO:0090382, GO:0072659, GO:0045880, GO:0044351, GO:0043001, GO:0032418, GO:0030030, GO:0019882, GO:0006897, phagosome-lysosome fusion, phagosome-lysosome fusion, phagosome maturation, protein localization to plasma membrane, positive regulation of smoothened signaling pathway, macropinocytosis, Golgi to plasma membrane protein transport, lysosome localization, cell projection organization, antigen processing and presentation, endocytosis, 3 5 11 3 9 25 14 8 10 ENSG00000109118 chr17 28905250 28951771 - PHF12 protein_coding 57649 GO:0070822, GO:0017053, GO:0016580, GO:0005654, GO:0005634, GO:0005634, Sin3-type complex, transcription repressor complex, Sin3 complex, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0035091, GO:0005515, GO:0003714, GO:0003712, GO:0001222, metal ion binding, phosphatidylinositol binding, protein binding, transcription corepressor activity, transcription coregulator activity, transcription corepressor binding, GO:0045892, GO:0006355, GO:0000122, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3162 3552 4692 1519 2656 2427 1723 1695 2056 ENSG00000109132 chr4 41744082 41748970 - PHOX2B protein_coding The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]. 8929 GO:0005654, GO:0000785, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1901166, GO:0120162, GO:0071773, GO:0071542, GO:0071542, GO:0071157, GO:0061549, GO:0061452, GO:0060541, GO:0048894, GO:0048839, GO:0048486, GO:0048485, GO:0048484, GO:0048484, GO:0048483, GO:0045944, GO:0045944, GO:0045666, GO:0045665, GO:0035914, GO:0021934, GO:0021723, GO:0021533, GO:0010971, GO:0010468, GO:0010001, GO:0008285, GO:0006357, GO:0003360, GO:0003358, GO:0003357, GO:0003357, GO:0002087, GO:0001764, neural crest cell migration involved in autonomic nervous system development, positive regulation of cold-induced thermogenesis, cellular response to BMP stimulus, dopaminergic neuron differentiation, dopaminergic neuron differentiation, negative regulation of cell cycle arrest, sympathetic ganglion development, retrotrapezoid nucleus neuron differentiation, respiratory system development, efferent axon development in a lateral line nerve, inner ear development, parasympathetic nervous system development, sympathetic nervous system development, enteric nervous system development, enteric nervous system development, autonomic nervous system development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, negative regulation of neuron differentiation, skeletal muscle cell differentiation, hindbrain tangential cell migration, medullary reticular formation development, cell differentiation in hindbrain, positive regulation of G2/M transition of mitotic cell cycle, regulation of gene expression, glial cell differentiation, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, brainstem development, noradrenergic neuron development, noradrenergic neuron differentiation, noradrenergic neuron differentiation, regulation of respiratory gaseous exchange by nervous system process, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000109133 chr4 41935120 41960572 + TMEM33 protein_coding 55161 GO:0042470, GO:0030176, GO:0005789, GO:0005783, GO:0005783, GO:0005635, melanosome, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nuclear envelope, GO:0005515, protein binding, GO:1903899, GO:1903896, GO:1903371, GO:0071786, GO:0061024, GO:0034976, positive regulation of PERK-mediated unfolded protein response, positive regulation of IRE1-mediated unfolded protein response, regulation of endoplasmic reticulum tubular network organization, endoplasmic reticulum tubular network organization, membrane organization, response to endoplasmic reticulum stress, 817 846 971 414 729 595 472 673 490 ENSG00000109158 chr4 46918900 46994407 - GABRA4 protein_coding Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]. 2557 GO:1902711, GO:0099060, GO:0098982, GO:0098794, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0005887, GO:0005886, GABA-A receptor complex, integral component of postsynaptic specialization membrane, GABA-ergic synapse, postsynapse, synapse, neuron projection, chloride channel complex, dendrite membrane, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0030594, GO:0022851, GO:0008503, GO:0005254, GO:0005237, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:1902476, GO:0060078, GO:0051932, GO:0050877, GO:0042391, GO:0034220, GO:0007417, GO:0007268, GO:0007214, GO:0007165, chloride transmembrane transport, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, regulation of membrane potential, ion transmembrane transport, central nervous system development, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000109163 chr4 67739328 67754360 - GNRHR protein_coding This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]. 2798 GO:0016020, GO:0005887, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042277, GO:0004968, GO:0004930, peptide binding, gonadotropin-releasing hormone receptor activity, G protein-coupled receptor activity, GO:0097211, GO:0007275, GO:0007186, GO:0007186, cellular response to gonadotropin-releasing hormone, multicellular organism development, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 1 0 0 3 1 0 ENSG00000109171 chr4 48341322 48426212 + SLAIN2 protein_coding 57606 GO:0035371, GO:0015630, GO:0005829, GO:0005813, microtubule plus-end, microtubule cytoskeleton, cytosol, centrosome, GO:0005515, protein binding, GO:0031122, GO:0031116, GO:0007020, cytoplasmic microtubule organization, positive regulation of microtubule polymerization, microtubule nucleation, 676 641 787 254 345 408 271 373 297 ENSG00000109180 chr4 48805212 48861817 + OCIAD1 protein_coding 54940 GO:0016020, GO:0005794, GO:0005768, GO:0005768, GO:0005764, membrane, Golgi apparatus, endosome, endosome, lysosome, GO:0005515, protein binding, GO:2000736, GO:1902037, GO:0046427, GO:0019731, regulation of stem cell differentiation, negative regulation of hematopoietic stem cell differentiation, positive regulation of receptor signaling pathway via JAK-STAT, antibacterial humoral response, 479 469 585 317 378 404 353 365 322 ENSG00000109181 chr4 68815993 68831196 + UGT2B10 protein_coding 7365 GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0015020, GO:0008194, glucuronosyltransferase activity, UDP-glycosyltransferase activity, GO:0006629, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000109182 chr4 48986247 49062081 + CWH43 protein_coding 80157 GO:0016021, GO:0005783, integral component of membrane, endoplasmic reticulum, GO:0006506, GPI anchor biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000109184 chr4 51843000 51916837 + DCUN1D4 protein_coding 23142 GO:0005634, GO:0005634, GO:0000151, nucleus, nucleus, ubiquitin ligase complex, GO:0097602, GO:0097602, GO:0032182, GO:0031624, GO:0005515, cullin family protein binding, cullin family protein binding, ubiquitin-like protein binding, ubiquitin conjugating enzyme binding, protein binding, GO:2000436, GO:0051443, GO:0045116, positive regulation of protein neddylation, positive regulation of ubiquitin-protein transferase activity, protein neddylation, 88 49 266 83 37 178 83 35 179 ENSG00000109189 chr4 52590972 52659335 - USP46 protein_coding Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009]. 64854 GO:0098978, GO:0005829, GO:0005634, glutamatergic synapse, cytosol, nucleus, GO:0046872, GO:0005515, GO:0004843, GO:0004843, GO:0004197, metal ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0099149, GO:0060013, GO:0048149, GO:0032228, GO:0016579, GO:0016579, GO:0008343, GO:0006511, GO:0001662, regulation of postsynaptic neurotransmitter receptor internalization, righting reflex, behavioral response to ethanol, regulation of synaptic transmission, GABAergic, protein deubiquitination, protein deubiquitination, adult feeding behavior, ubiquitin-dependent protein catabolic process, behavioral fear response, 7 6 11 29 1 20 25 10 27 ENSG00000109193 chr4 69841212 69860152 - SULT1E1 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]. 6783 GO:0031965, GO:0005829, GO:0005829, GO:0005737, nuclear membrane, cytosol, cytosol, cytoplasm, GO:0050294, GO:0047894, GO:0008146, GO:0008146, GO:0005515, GO:0005496, GO:0004304, GO:0004062, steroid sulfotransferase activity, flavonol 3-sulfotransferase activity, sulfotransferase activity, sulfotransferase activity, protein binding, steroid binding, estrone sulfotransferase activity, aryl sulfotransferase activity, GO:0051923, GO:0051923, GO:0050427, GO:0050427, GO:0045600, GO:0008210, GO:0008202, GO:0006711, GO:0006068, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, positive regulation of fat cell differentiation, estrogen metabolic process, steroid metabolic process, estrogen catabolic process, ethanol catabolic process, 0 1 0 0 3 0 2 0 0 ENSG00000109205 chr4 70196496 70204576 + ODAM protein_coding 54959 GO:0099512, GO:0072686, GO:0071944, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0005576, supramolecular fiber, mitotic spindle, cell periphery, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular space, extracellular region, GO:0005515, protein binding, GO:0060054, GO:0044267, GO:0043547, GO:0042475, GO:0042475, GO:0032956, GO:0031214, GO:0010628, GO:0006954, GO:0001934, positive regulation of epithelial cell proliferation involved in wound healing, cellular protein metabolic process, positive regulation of GTPase activity, odontogenesis of dentin-containing tooth, odontogenesis of dentin-containing tooth, regulation of actin cytoskeleton organization, biomineral tissue development, positive regulation of gene expression, inflammatory response, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000109208 chr4 70360761 70367158 + SMR3A protein_coding 26952 GO:0005515, GO:0004866, protein binding, endopeptidase inhibitor activity, GO:0051930, GO:0010951, regulation of sensory perception of pain, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000109220 chr4 54009789 54064690 - CHIC2 protein_coding This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]. 26511 GO:0043231, GO:0005886, GO:0005886, GO:0005798, GO:0005794, intracellular membrane-bounded organelle, plasma membrane, plasma membrane, Golgi-associated vesicle, Golgi apparatus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 338 365 489 237 483 411 328 520 431 ENSG00000109255 chr4 55595229 55636698 - NMU protein_coding This gene encodes a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in pain, stress, immune-mediated inflammatory diseases and feeding regulation. Increased expression of this gene was observed in renal, pancreatic and lung cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. Some of these isoforms may undergo similar processing to generate the mature peptide. [provided by RefSeq, Jul 2015]. 10874 GO:0043195, GO:0005576, terminal bouton, extracellular region, GO:0042922, GO:0031840, GO:0031839, GO:0005515, GO:0005102, neuromedin U receptor binding, type 2 neuromedin U receptor binding, type 1 neuromedin U receptor binding, protein binding, signaling receptor binding, GO:2000821, GO:1904058, GO:1903999, GO:1902722, GO:0120069, GO:0120061, GO:0097009, GO:0060455, GO:0050806, GO:0045987, GO:0045187, GO:0042755, GO:0031652, GO:0019233, GO:0010460, GO:0009648, GO:0007218, GO:0007218, GO:0007204, GO:0007186, GO:0003084, GO:0001696, GO:0001659, regulation of grooming behavior, positive regulation of sensory perception of pain, negative regulation of eating behavior, positive regulation of prolactin secretion, positive regulation of stomach fundus smooth muscle contraction, negative regulation of gastric emptying, energy homeostasis, negative regulation of gastric acid secretion, positive regulation of synaptic transmission, positive regulation of smooth muscle contraction, regulation of circadian sleep/wake cycle, sleep, eating behavior, positive regulation of heat generation, sensory perception of pain, positive regulation of heart rate, photoperiodism, neuropeptide signaling pathway, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, positive regulation of systemic arterial blood pressure, gastric acid secretion, temperature homeostasis, 0 0 0 0 2 0 0 0 0 ENSG00000109265 chr4 56049073 56328625 + KIAA1211 protein_coding 57482 GO:0005829, cytosol, GO:0005515, protein binding, GO:2000813, GO:2000813, GO:0030838, GO:0030277, GO:0030277, GO:0010669, negative regulation of barbed-end actin filament capping, negative regulation of barbed-end actin filament capping, positive regulation of actin filament polymerization, maintenance of gastrointestinal epithelium, maintenance of gastrointestinal epithelium, epithelial structure maintenance, 0 0 0 0 0 0 0 0 0 ENSG00000109270 chr4 99878336 99894490 - LAMTOR3 protein_coding This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]. 8649 GO:0071986, GO:0071986, GO:0070821, GO:0070062, GO:0035579, GO:0010008, GO:0005925, GO:0005886, GO:0005765, Ragulator complex, Ragulator complex, tertiary granule membrane, extracellular exosome, specific granule membrane, endosome membrane, focal adhesion, plasma membrane, lysosomal membrane, GO:0060090, GO:0019209, GO:0005515, GO:0005085, molecular adaptor activity, kinase activator activity, protein binding, guanyl-nucleotide exchange factor activity, GO:1902414, GO:0071230, GO:0071230, GO:0043312, GO:0034613, GO:0032008, GO:0032008, GO:0016241, GO:0007050, GO:0000186, GO:0000165, protein localization to cell junction, cellular response to amino acid stimulus, cellular response to amino acid stimulus, neutrophil degranulation, cellular protein localization, positive regulation of TOR signaling, positive regulation of TOR signaling, regulation of macroautophagy, cell cycle arrest, activation of MAPKK activity, MAPK cascade, 1026 861 1244 2513 2948 2777 2279 1765 1857 ENSG00000109272 chr4 73853189 73854155 + PF4V1 protein_coding The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015]. 5197 GO:0005615, extracellular space, GO:0045236, GO:0008201, GO:0008009, GO:0005515, CXCR chemokine receptor binding, heparin binding, chemokine activity, protein binding, GO:0071222, GO:0070098, GO:0061844, GO:0030593, GO:0030168, GO:0006954, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, neutrophil chemotaxis, platelet activation, inflammatory response, 5 1 7 2 0 1 1 4 0 ENSG00000109320 chr4 102501329 102617302 + NFKB1 protein_coding This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020]. 4790 GO:0035580, GO:0034774, GO:0033256, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000785, GO:0000785, specific granule lumen, secretory granule lumen, I-kappaB/NF-kappaB complex, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular region, chromatin, chromatin, GO:0042805, GO:0042802, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, actinin binding, identical protein binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000630, GO:1904385, GO:1900127, GO:0090263, GO:0071359, GO:0071356, GO:0071354, GO:0071347, GO:0071316, GO:0071260, GO:0071222, GO:0070498, GO:0051403, GO:0051092, GO:0050852, GO:0050728, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0043312, GO:0043066, GO:0038095, GO:0035994, GO:0032695, GO:0032481, GO:0032375, GO:0032269, GO:0031293, GO:0010957, GO:0010956, GO:0010884, GO:0010744, GO:0010629, GO:0006954, GO:0006915, GO:0006366, GO:0006357, GO:0002223, GO:0000122, GO:0000122, GO:0000122, positive regulation of miRNA metabolic process, cellular response to angiotensin, positive regulation of hyaluronan biosynthetic process, positive regulation of canonical Wnt signaling pathway, cellular response to dsRNA, cellular response to tumor necrosis factor, cellular response to interleukin-6, cellular response to interleukin-1, cellular response to nicotine, cellular response to mechanical stimulus, cellular response to lipopolysaccharide, interleukin-1-mediated signaling pathway, stress-activated MAPK cascade, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, negative regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, neutrophil degranulation, negative regulation of apoptotic process, Fc-epsilon receptor signaling pathway, response to muscle stretch, negative regulation of interleukin-12 production, positive regulation of type I interferon production, negative regulation of cholesterol transport, negative regulation of cellular protein metabolic process, membrane protein intracellular domain proteolysis, negative regulation of vitamin D biosynthetic process, negative regulation of calcidiol 1-monooxygenase activity, positive regulation of lipid storage, positive regulation of macrophage derived foam cell differentiation, negative regulation of gene expression, inflammatory response, apoptotic process, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, stimulatory C-type lectin receptor signaling pathway, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1084 763 2098 853 523 944 847 459 620 ENSG00000109321 chr4 74445134 74455009 + AREG protein_coding The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]. 374 GO:0033116, GO:0030665, GO:0016021, GO:0012507, GO:0009986, GO:0005789, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, clathrin-coated vesicle membrane, integral component of membrane, ER to Golgi transport vesicle membrane, cell surface, endoplasmic reticulum membrane, nucleus, extracellular space, extracellular space, extracellular region, Golgi membrane, GO:0008083, GO:0005515, GO:0005154, GO:0005125, growth factor activity, protein binding, epidermal growth factor receptor binding, cytokine activity, GO:0061024, GO:0060750, GO:0060749, GO:0060744, GO:0060598, GO:0051897, GO:0051591, GO:0051384, GO:0048208, GO:0045741, GO:0045668, GO:0043434, GO:0042542, GO:0042059, GO:0032355, GO:0031175, GO:0014009, GO:0010838, GO:0008284, GO:0008284, GO:0007267, GO:0007186, GO:0007173, GO:0007173, GO:0007173, GO:0007165, GO:0006888, GO:0000165, membrane organization, epithelial cell proliferation involved in mammary gland duct elongation, mammary gland alveolus development, mammary gland branching involved in thelarche, dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis, positive regulation of protein kinase B signaling, response to cAMP, response to glucocorticoid, COPII vesicle coating, positive regulation of epidermal growth factor-activated receptor activity, negative regulation of osteoblast differentiation, response to peptide hormone, response to hydrogen peroxide, negative regulation of epidermal growth factor receptor signaling pathway, response to estradiol, neuron projection development, glial cell proliferation, positive regulation of keratinocyte proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, G protein-coupled receptor signaling pathway, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, endoplasmic reticulum to Golgi vesicle-mediated transport, MAPK cascade, 38 76 116 247 135 132 213 100 163 ENSG00000109323 chr4 102630770 102760994 - MANBA protein_coding This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]. 4126 GO:0043231, GO:0043202, GO:0035577, GO:0005886, GO:0005764, intracellular membrane-bounded organelle, lysosomal lumen, azurophil granule membrane, plasma membrane, lysosome, GO:0005537, GO:0004567, GO:0004567, GO:0004567, mannose binding, beta-mannosidase activity, beta-mannosidase activity, beta-mannosidase activity, GO:0043312, GO:0009313, GO:0006516, GO:0006516, GO:0006464, neutrophil degranulation, oligosaccharide catabolic process, glycoprotein catabolic process, glycoprotein catabolic process, cellular protein modification process, 873 989 1191 931 1165 1006 1010 857 759 ENSG00000109332 chr4 102794383 102868896 - UBE2D3 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]. 7323 GO:0070062, GO:0010008, GO:0005886, GO:0005829, GO:0005654, GO:0005634, extracellular exosome, endosome membrane, plasma membrane, cytosol, nucleoplasm, nucleus, GO:0061631, GO:0061631, GO:0061630, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:1903955, GO:0071288, GO:0071276, GO:0070979, GO:0070979, GO:0070936, GO:0070936, GO:0051865, GO:0043161, GO:0035666, GO:0030509, GO:0016567, GO:0016567, GO:0006915, GO:0006625, GO:0006513, GO:0006464, GO:0006281, GO:0002756, GO:0000209, GO:0000209, GO:0000122, positive regulation of protein targeting to mitochondrion, cellular response to mercury ion, cellular response to cadmium ion, protein K11-linked ubiquitination, protein K11-linked ubiquitination, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein autoubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, TRIF-dependent toll-like receptor signaling pathway, BMP signaling pathway, protein ubiquitination, protein ubiquitination, apoptotic process, protein targeting to peroxisome, protein monoubiquitination, cellular protein modification process, DNA repair, MyD88-independent toll-like receptor signaling pathway, protein polyubiquitination, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 10875 9839 13579 8439 10913 13049 9803 8632 10879 ENSG00000109339 chr4 85990007 86594625 - MAPK10 protein_coding The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. 5602 GO:0043204, GO:0043005, GO:0005886, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, perikaryon, neuron projection, plasma membrane, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0004708, GO:0004707, GO:0004705, GO:0004705, ATP binding, protein binding, MAP kinase kinase activity, MAP kinase activity, JUN kinase activity, JUN kinase activity, GO:0071474, GO:0051090, GO:0048511, GO:0042752, GO:0038095, GO:0035556, GO:0010468, GO:0009416, GO:0009414, GO:0007258, GO:0007254, GO:0007254, GO:0007254, GO:0007165, GO:0006468, GO:0006468, GO:0000187, GO:0000122, cellular hyperosmotic response, regulation of DNA-binding transcription factor activity, rhythmic process, regulation of circadian rhythm, Fc-epsilon receptor signaling pathway, intracellular signal transduction, regulation of gene expression, response to light stimulus, response to water deprivation, JUN phosphorylation, JNK cascade, JNK cascade, JNK cascade, signal transduction, protein phosphorylation, protein phosphorylation, activation of MAPK activity, negative regulation of transcription by RNA polymerase II, 32 8 17 27 17 30 14 13 6 ENSG00000109381 chr4 139028112 139177218 - ELF2 protein_coding 1998 GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, nuclear body, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0050855, GO:0045893, GO:0030154, GO:0006357, GO:0006357, regulation of B cell receptor signaling pathway, positive regulation of transcription, DNA-templated, cell differentiation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 1446 1457 1709 1478 2177 1927 1768 1375 1425 ENSG00000109390 chr4 139266880 139302551 - NDUFC1 protein_coding The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 4717 GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 49 30 56 31 24 55 38 29 39 ENSG00000109424 chr4 140559434 140568805 - UCP1 protein_coding Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]. 7350 GO:0016021, GO:0005743, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:1901612, GO:0036041, GO:0032555, GO:0022857, GO:0017077, GO:0017077, cardiolipin binding, long-chain fatty acid binding, purine ribonucleotide binding, transmembrane transporter activity, oxidative phosphorylation uncoupler activity, oxidative phosphorylation uncoupler activity, GO:1990845, GO:1990845, GO:1990542, GO:1990542, GO:1903426, GO:1902600, GO:1902600, GO:0120162, GO:0071398, GO:0050873, GO:0034614, GO:0032870, GO:0031667, GO:0009409, GO:0009266, GO:0006357, GO:0002024, adaptive thermogenesis, adaptive thermogenesis, mitochondrial transmembrane transport, mitochondrial transmembrane transport, regulation of reactive oxygen species biosynthetic process, proton transmembrane transport, proton transmembrane transport, positive regulation of cold-induced thermogenesis, cellular response to fatty acid, brown fat cell differentiation, cellular response to reactive oxygen species, cellular response to hormone stimulus, response to nutrient levels, response to cold, response to temperature stimulus, regulation of transcription by RNA polymerase II, diet induced thermogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000109436 chr4 140620765 140756120 - TBC1D9 protein_coding 23158 GO:0031267, GO:0005515, GO:0005509, GO:0005096, small GTPase binding, protein binding, calcium ion binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 8 21 15 38 49 67 27 38 22 ENSG00000109445 chr4 141220887 141234697 + ZNF330 protein_coding 27309 GO:0030496, GO:0005730, GO:0005634, GO:0000775, midbody, nucleolus, nucleus, chromosome, centromeric region, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0008150, biological_process, 133 128 149 264 227 329 220 147 150 ENSG00000109452 chr4 142023160 142847432 - INPP4B protein_coding INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]. 8821 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0034597, GO:0016316, GO:0005515, phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity, phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity, protein binding, GO:0043647, GO:0036092, GO:0016311, GO:0007165, GO:0006661, inositol phosphate metabolic process, phosphatidylinositol-3-phosphate biosynthetic process, dephosphorylation, signal transduction, phosphatidylinositol biosynthetic process, 83 50 117 253 77 321 249 59 248 ENSG00000109458 chr4 143336762 143474568 + GAB1 protein_coding The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 2549 GO:0005911, GO:0005829, cell-cell junction, cytosol, GO:0005515, protein binding, GO:0090668, GO:0051897, GO:0045766, GO:0038128, GO:0038089, GO:0038084, GO:0031532, GO:0014068, GO:0008286, GO:0007411, GO:0007173, GO:0001525, endothelial cell chemotaxis to vascular endothelial growth factor, positive regulation of protein kinase B signaling, positive regulation of angiogenesis, ERBB2 signaling pathway, positive regulation of cell migration by vascular endothelial growth factor signaling pathway, vascular endothelial growth factor signaling pathway, actin cytoskeleton reorganization, positive regulation of phosphatidylinositol 3-kinase signaling, insulin receptor signaling pathway, axon guidance, epidermal growth factor receptor signaling pathway, angiogenesis, 732 706 811 533 809 741 705 578 729 ENSG00000109466 chr4 165207618 165323156 + KLHL2 protein_coding 11275 GO:0031463, GO:0030027, GO:0015629, GO:0005829, GO:0005737, GO:0001726, Cul3-RING ubiquitin ligase complex, lamellipodium, actin cytoskeleton, cytosol, cytoplasm, ruffle, GO:0042802, GO:0005515, GO:0003779, identical protein binding, protein binding, actin binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 1033 794 1231 769 1032 976 945 785 756 ENSG00000109471 chr4 122451470 122456725 - IL2 protein_coding This gene is a member of the interleukin 2 (IL2) cytokine subfamily which includes IL4, IL7, IL9, IL15, IL21, erythropoietin, and thrombopoietin. The protein encoded by this gene is a secreted cytokine produced by activated CD4+ and CD8+ T lymphocytes, that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine (IL2R) is a heterotrimeric protein complex whose gamma chain is also shared by IL4 and IL7. The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Sep 2020]. 3558 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0043208, GO:0031851, GO:0030246, GO:0019209, GO:0008083, GO:0005515, GO:0005134, GO:0005134, GO:0005125, glycosphingolipid binding, kappa-type opioid receptor binding, carbohydrate binding, kinase activator activity, growth factor activity, protein binding, interleukin-2 receptor binding, interleukin-2 receptor binding, cytokine activity, GO:2000320, GO:1900100, GO:0097192, GO:0060999, GO:0050729, GO:0050728, GO:0050672, GO:0048304, GO:0046013, GO:0045944, GO:0045822, GO:0045591, GO:0045589, GO:0045471, GO:0043066, GO:0042531, GO:0042104, GO:0038110, GO:0034105, GO:0033674, GO:0032740, GO:0032729, GO:0030890, GO:0030307, GO:0030217, GO:0030101, GO:0019221, GO:0008284, GO:0007267, GO:0007205, GO:0007204, GO:0007155, GO:0006955, GO:0002903, GO:0002639, GO:0002639, GO:0002366, GO:0002250, GO:0001933, GO:0000165, negative regulation of T-helper 17 cell differentiation, positive regulation of plasma cell differentiation, extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of dendritic spine development, positive regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of lymphocyte proliferation, positive regulation of isotype switching to IgG isotypes, regulation of T cell homeostatic proliferation, positive regulation of transcription by RNA polymerase II, negative regulation of heart contraction, positive regulation of regulatory T cell differentiation, regulation of regulatory T cell differentiation, response to ethanol, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of activated T cell proliferation, interleukin-2-mediated signaling pathway, positive regulation of tissue remodeling, positive regulation of kinase activity, positive regulation of interleukin-17 production, positive regulation of interferon-gamma production, positive regulation of B cell proliferation, positive regulation of cell growth, T cell differentiation, natural killer cell activation, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, cell-cell signaling, protein kinase C-activating G protein-coupled receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, cell adhesion, immune response, negative regulation of B cell apoptotic process, positive regulation of immunoglobulin production, positive regulation of immunoglobulin production, leukocyte activation involved in immune response, adaptive immune response, negative regulation of protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 5 1 0 ENSG00000109472 chr4 165361194 165498320 + CPE protein_coding This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015]. 1363 GO:0070062, GO:0030667, GO:0030658, GO:0005886, GO:0005794, GO:0005634, GO:0005615, extracellular exosome, secretory granule membrane, transport vesicle membrane, plasma membrane, Golgi apparatus, nucleus, extracellular space, GO:0050839, GO:0042043, GO:0008270, GO:0005515, GO:0004181, GO:0004180, cell adhesion molecule binding, neurexin family protein binding, zinc ion binding, protein binding, metallocarboxypeptidase activity, carboxypeptidase activity, GO:0072657, GO:0033366, GO:0030072, GO:0030070, GO:0016485, GO:0016055, GO:0007218, GO:0006518, GO:0006464, GO:0003214, protein localization to membrane, protein localization to secretory granule, peptide hormone secretion, insulin processing, protein processing, Wnt signaling pathway, neuropeptide signaling pathway, peptide metabolic process, cellular protein modification process, cardiac left ventricle morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000109475 chr4 108620566 108630412 + RPL34 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Overexpression of this gene has been observed in some cancer cells. Alternative splicing results in multiple transcript variants, all encoding the same isoform. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Feb 2016]. 6164 GO:0070062, GO:0022625, GO:0005829, GO:0005783, extracellular exosome, cytosolic large ribosomal subunit, cytosol, endoplasmic reticulum, GO:0045296, GO:0005515, GO:0003735, GO:0003723, cadherin binding, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 612 502 827 1310 722 1337 878 713 951 ENSG00000109501 chr4 6269849 6303265 + WFS1 protein_coding This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]. 7466 GO:0030425, GO:0030285, GO:0030176, GO:0030176, GO:0005789, GO:0005789, GO:0005788, GO:0005783, dendrite, integral component of synaptic vesicle membrane, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0070628, GO:0051117, GO:0048306, GO:0033613, GO:0031625, GO:0005516, GO:0005515, proteasome binding, ATPase binding, calcium-dependent protein binding, activating transcription factor binding, ubiquitin protein ligase binding, calmodulin binding, protein binding, GO:2000675, GO:1903892, GO:1902236, GO:0055074, GO:0055074, GO:0051928, GO:0051247, GO:0050877, GO:0050821, GO:0050821, GO:0050821, GO:0045927, GO:0044267, GO:0043687, GO:0043524, GO:0043433, GO:0043069, GO:0042593, GO:0042048, GO:0036498, GO:0034976, GO:0032469, GO:0031398, GO:0031398, GO:0031016, GO:0030968, GO:0030433, GO:0030433, GO:0022417, GO:0007605, GO:0007601, GO:0006983, GO:0006983, GO:0003091, GO:0001822, GO:0000122, negative regulation of type B pancreatic cell apoptotic process, negative regulation of ATF6-mediated unfolded protein response, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, calcium ion homeostasis, calcium ion homeostasis, positive regulation of calcium ion transport, positive regulation of protein metabolic process, nervous system process, protein stabilization, protein stabilization, protein stabilization, positive regulation of growth, cellular protein metabolic process, post-translational protein modification, negative regulation of neuron apoptotic process, negative regulation of DNA-binding transcription factor activity, negative regulation of programmed cell death, glucose homeostasis, olfactory behavior, IRE1-mediated unfolded protein response, response to endoplasmic reticulum stress, endoplasmic reticulum calcium ion homeostasis, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, pancreas development, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein maturation by protein folding, sensory perception of sound, visual perception, ER overload response, ER overload response, renal water homeostasis, kidney development, negative regulation of transcription by RNA polymerase II, 1 1 4 2 3 4 2 3 6 ENSG00000109511 chr4 168092515 168187690 + ANXA10 protein_coding This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]. 11199 GO:0005737, cytoplasm, GO:0005544, GO:0005515, GO:0005509, calcium-dependent phospholipid binding, protein binding, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000109519 chr4 7058906 7068197 - GRPEL1 protein_coding 80273 GO:0005759, GO:0005739, GO:0005654, GO:0001405, mitochondrial matrix, mitochondrion, nucleoplasm, PAM complex, Tim23 associated import motor, GO:0051087, GO:0051082, GO:0051082, GO:0042803, GO:0042802, GO:0005515, GO:0000774, chaperone binding, unfolded protein binding, unfolded protein binding, protein homodimerization activity, identical protein binding, protein binding, adenyl-nucleotide exchange factor activity, GO:0050790, GO:0030150, GO:0006457, regulation of catalytic activity, protein import into mitochondrial matrix, protein folding, 154 169 245 133 133 167 102 100 144 ENSG00000109534 chr4 109815510 109824740 + GAR1 protein_coding This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008]. 54433 GO:0090661, GO:0090661, GO:0072589, GO:0031429, GO:0031429, GO:0031429, GO:0005697, GO:0005697, GO:0005654, GO:0005654, GO:0001650, GO:0000781, GO:0000781, box H/ACA telomerase RNP complex, box H/ACA telomerase RNP complex, box H/ACA scaRNP complex, box H/ACA snoRNP complex, box H/ACA snoRNP complex, box H/ACA snoRNP complex, telomerase holoenzyme complex, telomerase holoenzyme complex, nucleoplasm, nucleoplasm, fibrillar center, chromosome, telomeric region, chromosome, telomeric region, GO:0070034, GO:0034513, GO:0034513, GO:0005515, GO:0003723, GO:0003723, telomerase RNA binding, box H/ACA snoRNA binding, box H/ACA snoRNA binding, protein binding, RNA binding, RNA binding, GO:0031118, GO:0007004, GO:0007004, GO:0000454, rRNA pseudouridine synthesis, telomere maintenance via telomerase, telomere maintenance via telomerase, snoRNA guided rRNA pseudouridine synthesis, 36 36 51 45 50 75 29 8 31 ENSG00000109536 chr4 189940788 189963204 + FRG1 protein_coding This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]. 2483 GO:0071013, GO:0071013, GO:0055120, GO:0030018, GO:0015030, GO:0005730, catalytic step 2 spliceosome, catalytic step 2 spliceosome, striated muscle dense body, Z disc, Cajal body, nucleolus, GO:0051015, GO:0005515, GO:0003723, actin filament binding, protein binding, RNA binding, GO:0007517, GO:0006364, GO:0000398, muscle organ development, rRNA processing, mRNA splicing, via spliceosome, 39 30 88 41 41 47 32 9 28 ENSG00000109572 chr4 169612633 169723673 + CLCN3 protein_coding This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 1182 GO:0055037, GO:0045335, GO:0043231, GO:0042581, GO:0032587, GO:0031902, GO:0031901, GO:0031410, GO:0030141, GO:0016021, GO:0016020, GO:0012506, GO:0010008, GO:0009986, GO:0009897, GO:0008021, GO:0008021, GO:0005887, GO:0005886, GO:0005794, GO:0005794, GO:0005770, GO:0005769, GO:0005769, GO:0005765, GO:0000139, recycling endosome, phagocytic vesicle, intracellular membrane-bounded organelle, specific granule, ruffle membrane, late endosome membrane, early endosome membrane, cytoplasmic vesicle, secretory granule, integral component of membrane, membrane, vesicle membrane, endosome membrane, cell surface, external side of plasma membrane, synaptic vesicle, synaptic vesicle, integral component of plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, late endosome, early endosome, early endosome, lysosomal membrane, Golgi membrane, GO:0072320, GO:0030165, GO:0015299, GO:0015297, GO:0005524, GO:0005515, GO:0005254, GO:0005254, GO:0005247, volume-sensitive chloride channel activity, PDZ domain binding, solute:proton antiporter activity, antiporter activity, ATP binding, protein binding, chloride channel activity, chloride channel activity, voltage-gated chloride channel activity, GO:1902600, GO:1902476, GO:0048388, GO:0045794, GO:0006885, proton transmembrane transport, chloride transmembrane transport, endosomal lumen acidification, negative regulation of cell volume, regulation of pH, 187 212 255 188 255 270 188 213 205 ENSG00000109576 chr4 170060222 170091699 - AADAT protein_coding This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 51166 GO:0005759, mitochondrial matrix, GO:0047536, GO:0042803, GO:0030170, GO:0016212, GO:0016212, GO:0008483, 2-aminoadipate transaminase activity, protein homodimerization activity, pyridoxal phosphate binding, kynurenine-oxoglutarate transaminase activity, kynurenine-oxoglutarate transaminase activity, transaminase activity, GO:1901605, GO:0097052, GO:0070189, GO:0033512, GO:0009058, GO:0006569, GO:0006554, GO:0006536, GO:0006103, alpha-amino acid metabolic process, L-kynurenine metabolic process, kynurenine metabolic process, L-lysine catabolic process to acetyl-CoA via saccharopine, biosynthetic process, tryptophan catabolic process, lysine catabolic process, glutamate metabolic process, 2-oxoglutarate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000109586 chr4 173168753 173323967 + GALNT7 protein_coding This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]. 51809 GO:0070062, GO:0016021, GO:0016020, GO:0005794, GO:0000139, extracellular exosome, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, GO:0006493, GO:0005975, O-glycan processing, protein O-linked glycosylation, carbohydrate metabolic process, 392 299 499 302 341 355 360 204 322 ENSG00000109606 chr4 24517441 24584550 - DHX15 protein_coding The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]. 1665 GO:0071008, GO:0016607, GO:0005730, GO:0005689, GO:0005681, GO:0005654, GO:0005634, GO:0005622, U2-type post-mRNA release spliceosomal complex, nuclear speck, nucleolus, U12-type spliceosomal complex, spliceosomal complex, nucleoplasm, nucleus, intracellular anatomical structure, GO:0005524, GO:0005515, GO:0003725, GO:0003724, GO:0003723, GO:0003723, ATP binding, protein binding, double-stranded RNA binding, RNA helicase activity, RNA binding, RNA binding, GO:0043279, GO:0009636, GO:0008380, GO:0006397, GO:0000398, response to alkaloid, response to toxic substance, RNA splicing, mRNA processing, mRNA splicing, via spliceosome, 602 564 701 746 632 648 611 445 513 ENSG00000109610 chr4 24789912 24800842 + SOD3 protein_coding This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015]. 6649 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0005796, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, Golgi lumen, nucleus, extracellular space, extracellular space, extracellular region, extracellular region, GO:0008201, GO:0005515, GO:0005507, GO:0004784, heparin binding, protein binding, copper ion binding, superoxide dismutase activity, GO:0055114, GO:0046688, GO:0034599, GO:0019430, GO:0001666, oxidation-reduction process, response to copper ion, cellular response to oxidative stress, removal of superoxide radicals, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000109618 chr4 25120014 25160442 - SEPSECS protein_coding The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]. 51091 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0016785, GO:0005515, GO:0000049, GO:0000049, transferase activity, transferring selenium-containing groups, protein binding, tRNA binding, tRNA binding, GO:0097056, GO:0016259, GO:0001514, GO:0001514, selenocysteinyl-tRNA(Sec) biosynthetic process, selenocysteine metabolic process, selenocysteine incorporation, selenocysteine incorporation, 43 63 105 71 77 101 88 54 60 ENSG00000109625 chr4 8592660 8619759 + CPZ protein_coding This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 8532 GO:0005615, extracellular space, GO:0008270, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, GO:0016485, GO:0016055, GO:0006518, GO:0006508, protein processing, Wnt signaling pathway, peptide metabolic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000109654 chr4 153152342 153339320 + TRIM2 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 23321 GO:0005737, cytoplasm, GO:0061630, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0043523, GO:0043161, GO:0000209, regulation of neuron apoptotic process, proteasome-mediated ubiquitin-dependent protein catabolic process, protein polyubiquitination, 6 4 3 11 4 5 12 2 0 ENSG00000109667 chr4 9771153 10054936 - SLC2A9 protein_coding This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 56606 GO:0016324, GO:0016323, GO:0016021, GO:0005886, apical plasma membrane, basolateral plasma membrane, integral component of membrane, plasma membrane, GO:0022857, GO:0015143, GO:0005515, GO:0005355, GO:0005351, transmembrane transporter activity, urate transmembrane transporter activity, protein binding, glucose transmembrane transporter activity, carbohydrate:proton symporter activity, GO:1904659, GO:1902600, GO:0046415, GO:0015747, GO:0008645, glucose transmembrane transport, proton transmembrane transport, urate metabolic process, urate transport, hexose transmembrane transport, 41 21 35 72 51 107 85 30 61 ENSG00000109670 chr4 152320544 152536063 - FBXW7 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]. 55294 GO:1990452, GO:0048471, GO:0019005, GO:0005829, GO:0005794, GO:0005783, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, Parkin-FBXW7-Cul1 ubiquitin ligase complex, perinuclear region of cytoplasm, SCF ubiquitin ligase complex, cytosol, Golgi apparatus, endoplasmic reticulum, mitochondrion, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0097027, GO:0050816, GO:0043130, GO:0042802, GO:0031625, GO:0030674, GO:0030332, GO:0030332, GO:0005515, ubiquitin-protein transferase activator activity, phosphothreonine residue binding, ubiquitin binding, identical protein binding, ubiquitin protein ligase binding, protein-macromolecule adaptor activity, cyclin binding, cyclin binding, protein binding, GO:2001205, GO:2000639, GO:2000346, GO:2000060, GO:2000060, GO:1903955, GO:1903378, GO:1903146, GO:1903026, GO:1902806, GO:1901800, GO:0090049, GO:0070374, GO:0055088, GO:0051443, GO:0050821, GO:0048511, GO:0045746, GO:0045741, GO:0043687, GO:0043161, GO:0042752, GO:0032880, GO:0031648, GO:0031398, GO:0031146, GO:0030324, GO:0016567, GO:0016032, GO:0010992, GO:0010883, GO:0010868, GO:0010629, GO:0010629, GO:0007219, GO:0007062, GO:0001944, GO:0001570, GO:0000209, negative regulation of osteoclast development, negative regulation of SREBP signaling pathway, negative regulation of hepatocyte proliferation, positive regulation of ubiquitin-dependent protein catabolic process, positive regulation of ubiquitin-dependent protein catabolic process, positive regulation of protein targeting to mitochondrion, positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway, regulation of autophagy of mitochondrion, negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding, regulation of cell cycle G1/S phase transition, positive regulation of proteasomal protein catabolic process, regulation of cell migration involved in sprouting angiogenesis, positive regulation of ERK1 and ERK2 cascade, lipid homeostasis, positive regulation of ubiquitin-protein transferase activity, protein stabilization, rhythmic process, negative regulation of Notch signaling pathway, positive regulation of epidermal growth factor-activated receptor activity, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of circadian rhythm, regulation of protein localization, protein destabilization, positive regulation of protein ubiquitination, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, lung development, protein ubiquitination, viral process, ubiquitin recycling, regulation of lipid storage, negative regulation of triglyceride biosynthetic process, negative regulation of gene expression, negative regulation of gene expression, Notch signaling pathway, sister chromatid cohesion, vasculature development, vasculogenesis, protein polyubiquitination, 1054 1132 1532 728 1101 1020 847 749 852 ENSG00000109674 chr4 177309836 177362943 + NEIL3 protein_coding NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]. 55247 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:1904931, GO:0140078, GO:0019104, GO:0019104, GO:0019104, GO:0008270, GO:0003906, GO:0003906, GO:0003697, GO:0003690, GO:0003684, GO:0000405, MCM complex binding, class I DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA N-glycosylase activity, DNA N-glycosylase activity, DNA N-glycosylase activity, zinc ion binding, DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, single-stranded DNA binding, double-stranded DNA binding, damaged DNA binding, bubble DNA binding, GO:0036297, GO:0006289, GO:0006284, GO:0006284, GO:0006284, interstrand cross-link repair, nucleotide-excision repair, base-excision repair, base-excision repair, base-excision repair, 0 0 0 1 0 0 0 0 0 ENSG00000109680 chr4 26576437 26755351 + TBC1D19 protein_coding 55296 GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:1902017, GO:0043547, regulation of cilium assembly, positive regulation of GTPase activity, 2 3 10 3 1 16 14 3 11 ENSG00000109684 chr4 10486395 10684865 - CLNK protein_coding MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]. 116449 GO:0042629, GO:0032991, GO:0005737, mast cell granule, protein-containing complex, cytoplasm, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:0043303, GO:0035556, GO:0032815, GO:0010941, GO:0007169, GO:0002729, mast cell degranulation, intracellular signal transduction, negative regulation of natural killer cell activation, regulation of cell death, transmembrane receptor protein tyrosine kinase signaling pathway, positive regulation of natural killer cell cytokine production, 0 0 0 1 2 0 6 1 0 ENSG00000109685 chr4 1871424 1982207 + NSD2 protein_coding This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]. 7468 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0046975, GO:0046872, GO:0043565, GO:0042799, GO:0005515, GO:0003682, histone methyltransferase activity (H3-K36 specific), metal ion binding, sequence-specific DNA binding, histone methyltransferase activity (H4-K20 specific), protein binding, chromatin binding, GO:2001032, GO:0070201, GO:0060348, GO:0048298, GO:0034770, GO:0010452, GO:0006355, GO:0006303, GO:0003290, GO:0003289, GO:0003149, GO:0000122, regulation of double-strand break repair via nonhomologous end joining, regulation of establishment of protein localization, bone development, positive regulation of isotype switching to IgA isotypes, histone H4-K20 methylation, histone H3-K36 methylation, regulation of transcription, DNA-templated, double-strand break repair via nonhomologous end joining, atrial septum secundum morphogenesis, atrial septum primum morphogenesis, membranous septum morphogenesis, negative regulation of transcription by RNA polymerase II, 105 105 139 154 64 131 90 78 128 ENSG00000109686 chr4 151102751 151325632 - SH3D19 protein_coding This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 152503 GO:0005886, GO:0005829, GO:0005829, GO:0005654, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0005515, protein binding, GO:0051044, GO:0022604, GO:0007010, positive regulation of membrane protein ectodomain proteolysis, regulation of cell morphogenesis, cytoskeleton organization, 1082 556 1520 2291 916 2662 1692 954 1779 ENSG00000109689 chr4 26857678 27025381 + STIM2 protein_coding This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009]. 57620 GO:0016021, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0015279, GO:0005515, GO:0005509, GO:0005509, GO:0005246, GO:0005246, store-operated calcium channel activity, protein binding, calcium ion binding, calcium ion binding, calcium channel regulator activity, calcium channel regulator activity, GO:0070588, GO:0051928, GO:0051928, GO:0032237, GO:0032237, GO:0032237, GO:0006874, GO:0006874, GO:0002115, calcium ion transmembrane transport, positive regulation of calcium ion transport, positive regulation of calcium ion transport, activation of store-operated calcium channel activity, activation of store-operated calcium channel activity, activation of store-operated calcium channel activity, cellular calcium ion homeostasis, cellular calcium ion homeostasis, store-operated calcium entry, 323 415 570 318 431 458 331 310 328 ENSG00000109705 chr4 13540830 13545050 - NKX3-2 protein_coding This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]. 579 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060576, GO:0048706, GO:0048705, GO:0048645, GO:0048536, GO:0043066, GO:0042474, GO:0032331, GO:0031016, GO:0030154, GO:0007368, GO:0006366, GO:0006357, GO:0001501, GO:0000122, intestinal epithelial cell development, embryonic skeletal system development, skeletal system morphogenesis, animal organ formation, spleen development, negative regulation of apoptotic process, middle ear morphogenesis, negative regulation of chondrocyte differentiation, pancreas development, cell differentiation, determination of left/right symmetry, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, skeletal system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 2 0 ENSG00000109736 chr4 2930561 2934859 - MFSD10 protein_coding This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. 10227 GO:0031526, GO:0030659, GO:0016021, GO:0005637, brush border membrane, cytoplasmic vesicle membrane, integral component of membrane, nuclear inner membrane, GO:0008514, GO:0008493, GO:0005515, organic anion transmembrane transporter activity, tetracycline transmembrane transporter activity, protein binding, GO:0043252, GO:0015904, GO:0006915, sodium-independent organic anion transport, tetracycline transmembrane transport, apoptotic process, 421 451 575 287 319 339 334 320 320 ENSG00000109738 chr4 157076057 157172090 + GLRB protein_coding This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 2743 GO:0098982, GO:0098690, GO:0045211, GO:0045202, GO:0043005, GO:0030425, GO:0016935, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005737, GABA-ergic synapse, glycinergic synapse, postsynaptic membrane, synapse, neuron projection, dendrite, glycine-gated chloride channel complex, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0044877, GO:0030594, GO:0016934, GO:0016934, GO:0016933, GO:0016594, GO:0016594, GO:0005515, GO:0005254, GO:0004888, protein-containing complex binding, neurotransmitter receptor activity, extracellularly glycine-gated chloride channel activity, extracellularly glycine-gated chloride channel activity, extracellularly glycine-gated ion channel activity, glycine binding, glycine binding, protein binding, chloride channel activity, transmembrane signaling receptor activity, GO:1902476, GO:1902476, GO:0097112, GO:0060079, GO:0060013, GO:0060012, GO:0050877, GO:0043200, GO:0042391, GO:0034220, GO:0007628, GO:0007601, GO:0007399, GO:0007340, GO:0007268, GO:0007268, GO:0007268, GO:0007218, GO:0007218, GO:0007165, GO:0006811, GO:0001964, chloride transmembrane transport, chloride transmembrane transport, gamma-aminobutyric acid receptor clustering, excitatory postsynaptic potential, righting reflex, synaptic transmission, glycinergic, nervous system process, response to amino acid, regulation of membrane potential, ion transmembrane transport, adult walking behavior, visual perception, nervous system development, acrosome reaction, chemical synaptic transmission, chemical synaptic transmission, chemical synaptic transmission, neuropeptide signaling pathway, neuropeptide signaling pathway, signal transduction, ion transport, startle response, 0 0 0 0 0 0 0 0 0 ENSG00000109743 chr4 15702950 15738313 + BST1 protein_coding Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]. 683 GO:0070062, GO:0035579, GO:0031225, GO:0019898, GO:0005886, GO:0005886, GO:0005576, GO:0001931, extracellular exosome, specific granule membrane, anchored component of membrane, extrinsic component of membrane, plasma membrane, plasma membrane, extracellular region, uropod, GO:0061812, GO:0061811, GO:0061809, GO:0050135, GO:0016849, GO:0016740, GO:0003953, cyclic ADP-ribose hydrolase, ADP-ribosyl cyclase activity, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, phosphorus-oxygen lyase activity, transferase activity, NAD+ nucleosidase activity, GO:2001044, GO:0090322, GO:0090022, GO:0050848, GO:0050848, GO:0050730, GO:0050727, GO:0043312, GO:0032956, GO:0030890, GO:0019674, GO:0008284, GO:0007165, GO:0006959, GO:0002691, GO:0001952, regulation of integrin-mediated signaling pathway, regulation of superoxide metabolic process, regulation of neutrophil chemotaxis, regulation of calcium-mediated signaling, regulation of calcium-mediated signaling, regulation of peptidyl-tyrosine phosphorylation, regulation of inflammatory response, neutrophil degranulation, regulation of actin cytoskeleton organization, positive regulation of B cell proliferation, NAD metabolic process, positive regulation of cell population proliferation, signal transduction, humoral immune response, regulation of cellular extravasation, regulation of cell-matrix adhesion, 1474 1171 2194 317 795 608 503 742 622 ENSG00000109756 chr4 159103013 159360174 + RAPGEF2 protein_coding Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]. 9693 GO:0048471, GO:0045202, GO:0043025, GO:0043005, GO:0032991, GO:0030139, GO:0016324, GO:0016020, GO:0005923, GO:0005911, GO:0005887, GO:0005886, GO:0005829, GO:0005829, GO:0005770, GO:0005737, perinuclear region of cytoplasm, synapse, neuronal cell body, neuron projection, protein-containing complex, endocytic vesicle, apical plasma membrane, membrane, bicellular tight junction, cell-cell junction, integral component of plasma membrane, plasma membrane, cytosol, cytosol, late endosome, cytoplasm, GO:0070300, GO:0050699, GO:0031697, GO:0030553, GO:0030552, GO:0030552, GO:0030165, GO:0019992, GO:0005515, GO:0005509, GO:0005096, GO:0005085, GO:0005085, phosphatidic acid binding, WW domain binding, beta-1 adrenergic receptor binding, cGMP binding, cAMP binding, cAMP binding, PDZ domain binding, diacylglycerol binding, protein binding, calcium ion binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2001224, GO:2001214, GO:2000670, GO:2000481, GO:1990090, GO:1901888, GO:0090557, GO:0072659, GO:0071880, GO:0071321, GO:0071320, GO:0070374, GO:0061028, GO:0050774, GO:0048167, GO:0048022, GO:0045860, GO:0043950, GO:0043547, GO:0043547, GO:0038180, GO:0035556, GO:0032486, GO:0032092, GO:0031547, GO:0031175, GO:0030033, GO:0021884, GO:0021591, GO:0019933, GO:0019933, GO:0010976, GO:0008285, GO:0007264, GO:0007218, GO:0007186, GO:0001764, GO:0001568, GO:0000165, GO:0000165, positive regulation of neuron migration, positive regulation of vasculogenesis, positive regulation of dendritic cell apoptotic process, positive regulation of cAMP-dependent protein kinase activity, cellular response to nerve growth factor stimulus, regulation of cell junction assembly, establishment of endothelial intestinal barrier, protein localization to plasma membrane, adenylate cyclase-activating adrenergic receptor signaling pathway, cellular response to cGMP, cellular response to cAMP, positive regulation of ERK1 and ERK2 cascade, establishment of endothelial barrier, negative regulation of dendrite morphogenesis, regulation of synaptic plasticity, negative regulation of melanin biosynthetic process, positive regulation of protein kinase activity, positive regulation of cAMP-mediated signaling, positive regulation of GTPase activity, positive regulation of GTPase activity, nerve growth factor signaling pathway, intracellular signal transduction, Rap protein signal transduction, positive regulation of protein binding, brain-derived neurotrophic factor receptor signaling pathway, neuron projection development, microvillus assembly, forebrain neuron development, ventricular system development, cAMP-mediated signaling, cAMP-mediated signaling, positive regulation of neuron projection development, negative regulation of cell population proliferation, small GTPase mediated signal transduction, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, neuron migration, blood vessel development, MAPK cascade, MAPK cascade, 3460 3630 4603 1528 2413 2222 1541 1647 1590 ENSG00000109758 chr4 3441887 3449495 + HGFAC protein_coding This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 3083 GO:0005829, GO:0005791, GO:0005615, GO:0005576, cytosol, rough endoplasmic reticulum, extracellular space, extracellular region, GO:0008236, GO:0005515, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0031638, GO:0007596, GO:0006508, zymogen activation, blood coagulation, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000109762 chr4 185204237 185370185 + SNX25 protein_coding 83891 GO:0043231, GO:0010008, intracellular membrane-bounded organelle, endosome membrane, GO:0035091, GO:0034713, GO:0003674, phosphatidylinositol binding, type I transforming growth factor beta receptor binding, molecular_function, GO:0060394, GO:0032801, GO:0030512, GO:0015031, negative regulation of pathway-restricted SMAD protein phosphorylation, receptor catabolic process, negative regulation of transforming growth factor beta receptor signaling pathway, protein transport, 8 8 27 29 9 32 27 13 19 ENSG00000109771 chr4 185363879 185395899 - LRP2BP protein_coding 55805 GO:0005737, cytoplasm, GO:0005515, protein binding, 6 0 12 9 5 21 15 3 3 ENSG00000109775 chr4 185399540 185425985 - UFSP2 protein_coding This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 55325 GO:0005783, GO:0005737, GO:0005634, endoplasmic reticulum, cytoplasm, nucleus, GO:0071567, GO:0016790, GO:0005515, UFM1 hydrolase activity, thiolester hydrolase activity, protein binding, GO:0033146, GO:0006508, regulation of intracellular estrogen receptor signaling pathway, proteolysis, 24 57 56 184 248 159 95 158 100 ENSG00000109787 chr4 38664196 38701042 + KLF3 protein_coding 51274 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901653, GO:0007275, GO:0006357, GO:0000122, cellular response to peptide, multicellular organism development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2940 2803 2576 737 1963 1260 978 1724 1160 ENSG00000109790 chr4 39045039 39126857 + KLHL5 protein_coding 51088 GO:0005856, GO:0005829, GO:0005737, cytoskeleton, cytosol, cytoplasm, GO:0005515, GO:0003779, GO:0003674, protein binding, actin binding, molecular_function, GO:0043687, GO:0008150, post-translational protein modification, biological_process, 413 306 408 163 234 191 235 186 230 ENSG00000109794 chr4 186104419 186172667 + FAM149A protein_coding 25854 0 0 3 0 0 2 0 0 1 ENSG00000109805 chr4 17810902 17844862 + NCAPG protein_coding This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 64151 GO:0016020, GO:0005829, GO:0005737, GO:0005634, GO:0000796, GO:0000793, GO:0000779, membrane, cytosol, cytoplasm, nucleus, condensin complex, condensed chromosome, condensed chromosome, centromeric region, GO:0005515, protein binding, GO:0051301, GO:0007076, GO:0007076, GO:0007076, cell division, mitotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, 12 13 16 37 19 26 15 11 11 ENSG00000109814 chr4 39498755 39528311 - UGDH protein_coding The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 7358 GO:0070062, GO:0005829, GO:0005829, GO:0005654, GO:0005634, extracellular exosome, cytosol, cytosol, nucleoplasm, nucleus, GO:0051287, GO:0042802, GO:0003979, NAD binding, identical protein binding, UDP-glucose 6-dehydrogenase activity, GO:0055114, GO:0048666, GO:0034214, GO:0030206, GO:0015012, GO:0006065, GO:0006065, GO:0006065, GO:0006024, GO:0005975, GO:0001702, oxidation-reduction process, neuron development, protein hexamerization, chondroitin sulfate biosynthetic process, heparan sulfate proteoglycan biosynthetic process, UDP-glucuronate biosynthetic process, UDP-glucuronate biosynthetic process, UDP-glucuronate biosynthetic process, glycosaminoglycan biosynthetic process, carbohydrate metabolic process, gastrulation with mouth forming second, 12 8 21 14 11 28 11 15 24 ENSG00000109819 chr4 23755041 23904089 - PPARGC1A protein_coding The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]. 10891 GO:1990844, GO:1990843, GO:0097440, GO:0043231, GO:0043025, GO:0022626, GO:0016605, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, GO:0000791, GO:0000785, interfibrillar mitochondrion, subsarcolemmal mitochondrion, apical dendrite, intracellular membrane-bounded organelle, neuronal cell body, cytosolic ribosome, PML body, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, nucleus, euchromatin, chromatin, GO:1990841, GO:0043565, GO:0043014, GO:0042975, GO:0031625, GO:0031490, GO:0030374, GO:0030374, GO:0030331, GO:0016922, GO:0008134, GO:0008134, GO:0005515, GO:0003723, GO:0003713, GO:0003712, GO:0003677, GO:0003677, promoter-specific chromatin binding, sequence-specific DNA binding, alpha-tubulin binding, peroxisome proliferator activated receptor binding, ubiquitin protein ligase binding, chromatin DNA binding, nuclear receptor coactivator activity, nuclear receptor coactivator activity, estrogen receptor binding, nuclear receptor binding, transcription factor binding, transcription factor binding, protein binding, RNA binding, transcription coactivator activity, transcription coregulator activity, DNA binding, DNA binding, GO:2001171, GO:2000310, GO:2000272, GO:2000184, GO:1990845, GO:1904640, GO:1904639, GO:1904637, GO:1904635, GO:1901863, GO:1901860, GO:1901857, GO:1901558, GO:1901215, GO:0120162, GO:0097067, GO:0097009, GO:0090258, GO:0071873, GO:0071871, GO:0071560, GO:0071456, GO:0071392, GO:0071372, GO:0071356, GO:0071354, GO:0071333, GO:0071332, GO:0071313, GO:0071250, GO:0071222, GO:0065003, GO:0060612, GO:0051552, GO:0051091, GO:0051091, GO:0050873, GO:0050821, GO:0048662, GO:0048661, GO:0046321, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045820, GO:0045722, GO:0045333, GO:0043524, GO:0043201, GO:0042752, GO:0042594, GO:0042493, GO:0035865, GO:0035066, GO:0034599, GO:0032922, GO:0030900, GO:0022904, GO:0021549, GO:0019395, GO:0014912, GO:0014878, GO:0014850, GO:0014732, GO:0010822, GO:0010822, GO:0010628, GO:0009409, GO:0008380, GO:0008209, GO:0007623, GO:0007586, GO:0007568, GO:0007005, GO:0007005, GO:0006397, GO:0006367, GO:0006355, GO:0006094, GO:0006012, GO:0002931, GO:0002021, GO:0001933, GO:0001678, GO:0001659, GO:0000422, GO:0000302, positive regulation of ATP biosynthetic process, regulation of NMDA receptor activity, negative regulation of signaling receptor activity, positive regulation of progesterone biosynthetic process, adaptive thermogenesis, response to methionine, cellular response to resveratrol, cellular response to ionomycin, positive regulation of glomerular visceral epithelial cell apoptotic process, positive regulation of muscle tissue development, positive regulation of mitochondrial DNA metabolic process, positive regulation of cellular respiration, response to metformin, negative regulation of neuron death, positive regulation of cold-induced thermogenesis, cellular response to thyroid hormone stimulus, energy homeostasis, negative regulation of mitochondrial fission, response to norepinephrine, response to epinephrine, cellular response to transforming growth factor beta stimulus, cellular response to hypoxia, cellular response to estradiol stimulus, cellular response to follicle-stimulating hormone stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-6, cellular response to glucose stimulus, cellular response to fructose stimulus, cellular response to caffeine, cellular response to nitrite, cellular response to lipopolysaccharide, protein-containing complex assembly, adipose tissue development, flavone metabolic process, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, brown fat cell differentiation, protein stabilization, negative regulation of smooth muscle cell proliferation, positive regulation of smooth muscle cell proliferation, positive regulation of fatty acid oxidation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of glycolytic process, positive regulation of gluconeogenesis, cellular respiration, negative regulation of neuron apoptotic process, response to leucine, regulation of circadian rhythm, response to starvation, response to drug, cellular response to potassium ion, positive regulation of histone acetylation, cellular response to oxidative stress, circadian regulation of gene expression, forebrain development, respiratory electron transport chain, cerebellum development, fatty acid oxidation, negative regulation of smooth muscle cell migration, response to electrical stimulus involved in regulation of muscle adaptation, response to muscle activity, skeletal muscle atrophy, positive regulation of mitochondrion organization, positive regulation of mitochondrion organization, positive regulation of gene expression, response to cold, RNA splicing, androgen metabolic process, circadian rhythm, digestion, aging, mitochondrion organization, mitochondrion organization, mRNA processing, transcription initiation from RNA polymerase II promoter, regulation of transcription, DNA-templated, gluconeogenesis, galactose metabolic process, response to ischemia, response to dietary excess, negative regulation of protein phosphorylation, cellular glucose homeostasis, temperature homeostasis, autophagy of mitochondrion, response to reactive oxygen species, 0 0 0 0 0 0 0 0 0 ENSG00000109832 chr11 125903348 125943702 + DDX25 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]. 29118 GO:0033391, GO:0010494, GO:0005737, GO:0005634, GO:0005634, chromatoid body, cytoplasmic stress granule, cytoplasm, nucleus, nucleus, GO:0005524, GO:0005515, GO:0003724, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA helicase activity, RNA binding, GO:0016973, GO:0007286, GO:0007275, GO:0006417, GO:0006406, poly(A)+ mRNA export from nucleus, spermatid development, multicellular organism development, regulation of translation, mRNA export from nucleus, 0 0 0 1 0 0 0 0 0 ENSG00000109846 chr11 111908565 111923722 - CRYAB protein_coding Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]. 1410 GO:0097512, GO:0097060, GO:0070062, GO:0043204, GO:0043197, GO:0032991, GO:0032432, GO:0031430, GO:0030424, GO:0030018, GO:0015630, GO:0014069, GO:0009986, GO:0005829, GO:0005794, GO:0005739, GO:0005737, GO:0005654, GO:0005634, cardiac myofibril, synaptic membrane, extracellular exosome, perikaryon, dendritic spine, protein-containing complex, actin filament bundle, M band, axon, Z disc, microtubule cytoskeleton, postsynaptic density, cell surface, cytosol, Golgi apparatus, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0051082, GO:0046872, GO:0044877, GO:0042803, GO:0042802, GO:0008017, GO:0005515, GO:0005212, GO:0005198, GO:0001540, unfolded protein binding, metal ion binding, protein-containing complex binding, protein homodimerization activity, identical protein binding, microtubule binding, protein binding, structural constituent of eye lens, structural molecule activity, amyloid-beta binding, GO:2000378, GO:1905907, GO:1900034, GO:0071480, GO:0060561, GO:0051403, GO:0050821, GO:0045892, GO:0043154, GO:0043066, GO:0042542, GO:0032387, GO:0032355, GO:0031333, GO:0031109, GO:0030308, GO:0010941, GO:0010259, GO:0007517, GO:0007021, GO:0006936, GO:0006457, GO:0002088, GO:0001666, negative regulation of reactive oxygen species metabolic process, negative regulation of amyloid fibril formation, regulation of cellular response to heat, cellular response to gamma radiation, apoptotic process involved in morphogenesis, stress-activated MAPK cascade, protein stabilization, negative regulation of transcription, DNA-templated, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, response to hydrogen peroxide, negative regulation of intracellular transport, response to estradiol, negative regulation of protein-containing complex assembly, microtubule polymerization or depolymerization, negative regulation of cell growth, regulation of cell death, multicellular organism aging, muscle organ development, tubulin complex assembly, muscle contraction, protein folding, lens development in camera-type eye, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000109851 chr11 20156155 20160613 - DBX1 protein_coding 120237 GO:0000785, chromatin, GO:0003677, GO:0000981, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0021521, GO:0021515, GO:0006357, ventral spinal cord interneuron specification, cell differentiation in spinal cord, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000109854 chr11 20363685 20383783 + HTATIP2 protein_coding 10553 GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005635, GO:0005634, membrane, cytosol, cytoplasm, cytoplasm, nuclear envelope, nucleus, GO:0016491, GO:0005515, GO:0004674, GO:0003713, oxidoreductase activity, protein binding, protein serine/threonine kinase activity, transcription coactivator activity, GO:0055114, GO:0051170, GO:0051170, GO:0046777, GO:0045944, GO:0045765, GO:0043068, GO:0043066, GO:0030154, GO:0016032, GO:0006915, GO:0006357, GO:0001525, oxidation-reduction process, import into nucleus, import into nucleus, protein autophosphorylation, positive regulation of transcription by RNA polymerase II, regulation of angiogenesis, positive regulation of programmed cell death, negative regulation of apoptotic process, cell differentiation, viral process, apoptotic process, regulation of transcription by RNA polymerase II, angiogenesis, 431 431 415 122 309 218 153 266 179 ENSG00000109861 chr11 88293592 88337787 - CTSC protein_coding This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]. 1075 GO:0070062, GO:0062023, GO:0043231, GO:0035578, GO:0033116, GO:0030134, GO:0016020, GO:0005813, GO:0005788, GO:0005764, GO:0005764, GO:0005764, GO:0005654, GO:0005615, GO:0005615, GO:0005576, GO:0000139, extracellular exosome, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, azurophil granule lumen, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, membrane, centrosome, endoplasmic reticulum lumen, lysosome, lysosome, lysosome, nucleoplasm, extracellular space, extracellular space, extracellular region, Golgi membrane, GO:0051087, GO:0043621, GO:0042802, GO:0031404, GO:0019902, GO:0016505, GO:0008234, GO:0005515, GO:0004252, GO:0004197, chaperone binding, protein self-association, identical protein binding, chloride ion binding, phosphatase binding, peptidase activator activity involved in apoptotic process, cysteine-type peptidase activity, protein binding, serine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:2001235, GO:1903980, GO:1903052, GO:0051603, GO:0048208, GO:0043312, GO:0031642, GO:0010033, GO:0007568, GO:0006955, GO:0006915, GO:0006888, GO:0006508, GO:0001913, positive regulation of apoptotic signaling pathway, positive regulation of microglial cell activation, positive regulation of proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, COPII vesicle coating, neutrophil degranulation, negative regulation of myelination, response to organic substance, aging, immune response, apoptotic process, endoplasmic reticulum to Golgi vesicle-mediated transport, proteolysis, T cell mediated cytotoxicity, 1252 1625 1103 441 1063 604 485 987 482 ENSG00000109881 chr11 27330827 27363868 - CCDC34 protein_coding 91057 3 0 0 3 0 8 8 4 4 ENSG00000109906 chr11 114059593 114250676 + ZBTB16 protein_coding This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]. 7704 GO:0032991, GO:0017053, GO:0016607, GO:0016605, GO:0016604, GO:0005886, GO:0005829, GO:0005634, GO:0005634, protein-containing complex, transcription repressor complex, nuclear speck, PML body, nuclear body, plasma membrane, cytosol, nucleus, nucleus, GO:0046872, GO:0042803, GO:0042802, GO:0019904, GO:0008022, GO:0005515, GO:0003677, GO:0003677, GO:0001228, GO:0001227, GO:0001227, GO:0000978, GO:0000978, metal ion binding, protein homodimerization activity, identical protein binding, protein domain specific binding, protein C-terminus binding, protein binding, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0061036, GO:0051216, GO:0051138, GO:0048133, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0045778, GO:0045638, GO:0045600, GO:0043687, GO:0043065, GO:0042733, GO:0035136, GO:0035116, GO:0034504, GO:0032332, GO:0030099, GO:0030097, GO:0030097, GO:0016567, GO:0009952, GO:0009880, GO:0008285, GO:0007417, GO:0006915, GO:0006357, GO:0001823, GO:0000122, positive regulation of cartilage development, cartilage development, positive regulation of NK T cell differentiation, male germ-line stem cell asymmetric division, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of ossification, negative regulation of myeloid cell differentiation, positive regulation of fat cell differentiation, post-translational protein modification, positive regulation of apoptotic process, embryonic digit morphogenesis, forelimb morphogenesis, embryonic hindlimb morphogenesis, protein localization to nucleus, positive regulation of chondrocyte differentiation, myeloid cell differentiation, hemopoiesis, hemopoiesis, protein ubiquitination, anterior/posterior pattern specification, embryonic pattern specification, negative regulation of cell population proliferation, central nervous system development, apoptotic process, regulation of transcription by RNA polymerase II, mesonephros development, negative regulation of transcription by RNA polymerase II, 14 14 23 12 20 27 22 25 16 ENSG00000109911 chr11 31509700 31790328 + ELP4 protein_coding This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 26610 GO:0033588, GO:0033588, GO:0008023, GO:0008023, GO:0005737, GO:0005737, GO:0005654, elongator holoenzyme complex, elongator holoenzyme complex, transcription elongation factor complex, transcription elongation factor complex, cytoplasm, cytoplasm, nucleoplasm, GO:0008607, GO:0005515, GO:0000993, phosphorylase kinase regulator activity, protein binding, RNA polymerase II complex binding, GO:0045859, GO:0006368, GO:0006357, GO:0006357, GO:0006357, GO:0002098, regulation of protein kinase activity, transcription elongation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, tRNA wobble uridine modification, 19 20 27 51 17 46 44 22 30 ENSG00000109917 chr11 116773799 116788050 - ZPR1 protein_coding The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 8882 GO:0097504, GO:0048471, GO:0043204, GO:0043025, GO:0030426, GO:0030424, GO:0030424, GO:0015030, GO:0015030, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, Gemini of coiled bodies, perinuclear region of cytoplasm, perikaryon, neuronal cell body, growth cone, axon, axon, Cajal body, Cajal body, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0031369, GO:0031369, GO:0030971, GO:0008270, GO:0005515, translation initiation factor binding, translation initiation factor binding, receptor tyrosine kinase binding, zinc ion binding, protein binding, GO:2000672, GO:1990261, GO:1902742, GO:0071931, GO:0071364, GO:0061564, GO:0061564, GO:0061564, GO:0045927, GO:0042307, GO:0042307, GO:0042023, GO:0033120, GO:0031641, GO:0030576, GO:0030576, GO:0030576, GO:0021510, GO:0010628, GO:0010628, GO:0008380, GO:0008283, GO:0007165, GO:0006397, GO:0001834, GO:0001833, GO:0000226, negative regulation of motor neuron apoptotic process, pre-mRNA catabolic process, apoptotic process involved in development, positive regulation of transcription involved in G1/S transition of mitotic cell cycle, cellular response to epidermal growth factor stimulus, axon development, axon development, axon development, positive regulation of growth, positive regulation of protein import into nucleus, positive regulation of protein import into nucleus, DNA endoreduplication, positive regulation of RNA splicing, regulation of myelination, Cajal body organization, Cajal body organization, Cajal body organization, spinal cord development, positive regulation of gene expression, positive regulation of gene expression, RNA splicing, cell population proliferation, signal transduction, mRNA processing, trophectodermal cell proliferation, inner cell mass cell proliferation, microtubule cytoskeleton organization, 112 109 144 221 132 220 149 84 143 ENSG00000109919 chr11 47617315 47642623 - MTCH2 protein_coding This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [provided by RefSeq, Dec 2017]. 23788 GO:0016021, GO:0016020, GO:0016020, GO:0005743, GO:0005739, GO:0005634, integral component of membrane, membrane, membrane, mitochondrial inner membrane, mitochondrion, nucleus, GO:0005515, protein binding, GO:0070585, GO:0043065, protein localization to mitochondrion, positive regulation of apoptotic process, 22 38 38 43 42 61 37 24 49 ENSG00000109920 chr11 47716517 47767443 - FNBP4 protein_coding This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]. 23360 GO:0016607, nuclear speck, GO:0005515, protein binding, 680 665 927 758 770 991 895 574 733 ENSG00000109927 chr11 121101173 121191493 + TECTA protein_coding The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]. 7007 GO:0070062, GO:0062023, GO:0031225, GO:0005886, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, anchored component of membrane, plasma membrane, extracellular region, GO:0005201, extracellular matrix structural constituent, GO:0007605, GO:0007160, sensory perception of sound, cell-matrix adhesion, 1 0 0 0 0 0 1 0 0 ENSG00000109929 chr11 121292453 121308694 + SC5D protein_coding This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]. 6309 GO:0016021, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0016491, GO:0005506, GO:0000248, GO:0000248, oxidoreductase activity, iron ion binding, C-5 sterol desaturase activity, C-5 sterol desaturase activity, GO:0055114, GO:0045540, GO:0033490, GO:0033490, GO:0033489, GO:0016126, GO:0006629, oxidation-reduction process, regulation of cholesterol biosynthetic process, cholesterol biosynthetic process via lathosterol, cholesterol biosynthetic process via lathosterol, cholesterol biosynthetic process via desmosterol, sterol biosynthetic process, lipid metabolic process, 95 73 128 72 40 76 111 32 55 ENSG00000109943 chr11 122838500 122872639 + CRTAM protein_coding The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]. 56253 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0001772, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, immunological synapse, GO:0005102, GO:0005102, signaling receptor binding, signaling receptor binding, GO:2001185, GO:0097021, GO:0051606, GO:0050863, GO:0050798, GO:0050776, GO:0046007, GO:0045954, GO:0045580, GO:0032729, GO:0008037, GO:0008037, GO:0007157, GO:0002860, GO:0002860, GO:0002355, GO:0002355, GO:0001913, GO:0001819, GO:0001768, regulation of CD8-positive, alpha-beta T cell activation, lymphocyte migration into lymphoid organs, detection of stimulus, regulation of T cell activation, activated T cell proliferation, regulation of immune response, negative regulation of activated T cell proliferation, positive regulation of natural killer cell mediated cytotoxicity, regulation of T cell differentiation, positive regulation of interferon-gamma production, cell recognition, cell recognition, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, detection of tumor cell, detection of tumor cell, T cell mediated cytotoxicity, positive regulation of cytokine production, establishment of T cell polarity, 12 14 85 43 15 47 33 16 69 ENSG00000109944 chr11 122882528 122959798 + JHY protein_coding 79864 GO:0005576, extracellular region, GO:0090660, GO:0090175, GO:0044458, GO:0035082, GO:0030154, GO:0007420, cerebrospinal fluid circulation, regulation of establishment of planar polarity, motile cilium assembly, axoneme assembly, cell differentiation, brain development, 5 0 6 10 12 10 12 4 14 ENSG00000109956 chr11 134378504 134411918 - B3GAT1 protein_coding The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]. 27087 GO:0043231, GO:0016021, GO:0005789, GO:0005576, GO:0000139, GO:0000139, GO:0000139, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, extracellular region, Golgi membrane, Golgi membrane, Golgi membrane, GO:0046872, GO:0015018, GO:0015018, GO:0008499, GO:0005515, metal ion binding, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity, protein binding, GO:0071456, GO:0050650, GO:0030203, GO:0006486, GO:0005975, cellular response to hypoxia, chondroitin sulfate proteoglycan biosynthetic process, glycosaminoglycan metabolic process, protein glycosylation, carbohydrate metabolic process, 2 5 29 7 8 59 6 3 52 ENSG00000109971 chr11 123057489 123063230 - HSPA8 protein_coding This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 3312 GO:1990904, GO:1904813, GO:0101031, GO:0099524, GO:0099523, GO:0098978, GO:0098684, GO:0098575, GO:0072562, GO:0070062, GO:0070062, GO:0061202, GO:0048471, GO:0043202, GO:0043195, GO:0042470, GO:0034774, GO:0030425, GO:0016020, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005776, GO:0005770, GO:0005765, GO:0005764, GO:0005737, GO:0005730, GO:0005681, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0005576, GO:0000974, ribonucleoprotein complex, ficolin-1-rich granule lumen, chaperone complex, postsynaptic cytosol, presynaptic cytosol, glutamatergic synapse, photoreceptor ribbon synapse, lumenal side of lysosomal membrane, blood microparticle, extracellular exosome, extracellular exosome, clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, perinuclear region of cytoplasm, lysosomal lumen, terminal bouton, melanosome, secretory granule lumen, dendrite, membrane, focal adhesion, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, autophagosome, late endosome, lysosomal membrane, lysosome, cytoplasm, nucleolus, spliceosomal complex, nucleoplasm, nucleus, nucleus, extracellular space, extracellular region, Prp19 complex, GO:1990833, GO:0055131, GO:0051787, GO:0051087, GO:0051082, GO:0051082, GO:0045296, GO:0044183, GO:0031625, GO:0031072, GO:0031072, GO:0030674, GO:0023026, GO:0019899, GO:0016887, GO:0016887, GO:0016887, GO:0016887, GO:0005524, GO:0005524, GO:0005515, GO:0003723, GO:0001786, GO:0001664, clathrin-uncoating ATPase activity, C3HC4-type RING finger domain binding, misfolded protein binding, chaperone binding, unfolded protein binding, unfolded protein binding, cadherin binding, protein folding chaperone, ubiquitin protein ligase binding, heat shock protein binding, heat shock protein binding, protein-macromolecule adaptor activity, MHC class II protein complex binding, enzyme binding, ATPase activity, ATPase activity, ATPase activity, ATPase activity, ATP binding, ATP binding, protein binding, RNA binding, phosphatidylserine binding, G protein-coupled receptor binding, GO:1990832, GO:1904764, GO:1904764, GO:1904589, GO:1902904, GO:1900034, GO:0099175, GO:0072318, GO:0061741, GO:0061741, GO:0061740, GO:0061740, GO:0061740, GO:0061738, GO:0061684, GO:0061684, GO:0061635, GO:0061024, GO:0051726, GO:0051085, GO:0048026, GO:0046034, GO:0045892, GO:0044829, GO:0043488, GO:0043312, GO:0043254, GO:0042026, GO:0042026, GO:0034620, GO:0031647, GO:0019221, GO:0016192, GO:0016032, GO:0009267, GO:0007269, GO:0006986, GO:0006457, GO:0000398, slow axonal transport, chaperone-mediated autophagy translocation complex disassembly, chaperone-mediated autophagy translocation complex disassembly, regulation of protein import, negative regulation of supramolecular fiber organization, regulation of cellular response to heat, regulation of postsynapse organization, clathrin coat disassembly, chaperone-mediated protein transport involved in chaperone-mediated autophagy, chaperone-mediated protein transport involved in chaperone-mediated autophagy, protein targeting to lysosome involved in chaperone-mediated autophagy, protein targeting to lysosome involved in chaperone-mediated autophagy, protein targeting to lysosome involved in chaperone-mediated autophagy, late endosomal microautophagy, chaperone-mediated autophagy, chaperone-mediated autophagy, regulation of protein complex stability, membrane organization, regulation of cell cycle, chaperone cofactor-dependent protein refolding, positive regulation of mRNA splicing, via spliceosome, ATP metabolic process, negative regulation of transcription, DNA-templated, positive regulation by host of viral genome replication, regulation of mRNA stability, neutrophil degranulation, regulation of protein-containing complex assembly, protein refolding, protein refolding, cellular response to unfolded protein, regulation of protein stability, cytokine-mediated signaling pathway, vesicle-mediated transport, viral process, cellular response to starvation, neurotransmitter secretion, response to unfolded protein, protein folding, mRNA splicing, via spliceosome, 1804 2022 4875 15501 29542 18096 7897 10979 11008 ENSG00000109991 chr11 57338374 57370600 + P2RX3 protein_coding This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]. 5024 GO:0099056, GO:0045121, GO:0043235, GO:0043197, GO:0043195, GO:0043025, GO:0005887, GO:0005886, GO:0005794, GO:0005791, GO:0005639, integral component of presynaptic membrane, membrane raft, receptor complex, dendritic spine, terminal bouton, neuronal cell body, integral component of plasma membrane, plasma membrane, Golgi apparatus, rough endoplasmic reticulum, integral component of nuclear inner membrane, GO:0042802, GO:0005524, GO:0005524, GO:0004931, GO:0004931, GO:0004931, GO:0001614, GO:0001614, identical protein binding, ATP binding, ATP binding, extracellularly ATP-gated cation channel activity, extracellularly ATP-gated cation channel activity, extracellularly ATP-gated cation channel activity, purinergic nucleotide receptor activity, purinergic nucleotide receptor activity, GO:1904058, GO:0098655, GO:0071318, GO:0070207, GO:0061368, GO:0060079, GO:0050909, GO:0050850, GO:0048167, GO:0035590, GO:0030432, GO:0019228, GO:0015672, GO:0010524, GO:0009743, GO:0009612, GO:0009409, GO:0009408, GO:0007596, GO:0007274, GO:0007165, GO:0001666, positive regulation of sensory perception of pain, cation transmembrane transport, cellular response to ATP, protein homotrimerization, behavioral response to formalin induced pain, excitatory postsynaptic potential, sensory perception of taste, positive regulation of calcium-mediated signaling, regulation of synaptic plasticity, purinergic nucleotide receptor signaling pathway, peristalsis, neuronal action potential, monovalent inorganic cation transport, positive regulation of calcium ion transport into cytosol, response to carbohydrate, response to mechanical stimulus, response to cold, response to heat, blood coagulation, neuromuscular synaptic transmission, signal transduction, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000110002 chr11 124115362 124147721 + VWA5A protein_coding 4013 GO:0005654, nucleoplasm, GO:0005515, protein binding, 3 5 5 10 6 9 16 18 3 ENSG00000110011 chr11 64230278 64234286 + DNAJC4 protein_coding 3338 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:0006986, GO:0006457, response to unfolded protein, protein folding, 113 133 124 99 116 130 91 100 83 ENSG00000110013 chr11 124633113 124695707 - SIAE protein_coding This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]. 54414 GO:0070062, GO:0005764, GO:0005615, extracellular exosome, lysosome, extracellular space, GO:0001681, sialate O-acetylesterase activity, GO:0005975, GO:0002682, carbohydrate metabolic process, regulation of immune system process, 119 94 127 108 86 110 80 75 88 ENSG00000110025 chr11 65027408 65040572 + SNX15 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010]. 29907 GO:0043231, GO:0030659, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005769, GO:0005730, intracellular membrane-bounded organelle, cytoplasmic vesicle membrane, membrane, plasma membrane, cytosol, cytosol, early endosome, nucleolus, GO:0035091, GO:0005515, phosphatidylinositol binding, protein binding, GO:0006886, intracellular protein transport, 1 5 8 0 0 2 6 2 2 ENSG00000110031 chr11 58526871 58578220 - LPXN protein_coding The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]. 9404 GO:0048471, GO:0042995, GO:0016607, GO:0016020, GO:0005925, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0002102, perinuclear region of cytoplasm, cell projection, nuclear speck, membrane, focal adhesion, focal adhesion, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, nucleus, podosome, GO:0046872, GO:0005515, GO:0003712, GO:0003712, metal ion binding, protein binding, transcription coregulator activity, transcription coregulator activity, GO:1903506, GO:0065003, GO:0050859, GO:0050859, GO:0043542, GO:0034446, GO:0033628, GO:0007179, GO:0007165, GO:0007162, GO:0007155, regulation of nucleic acid-templated transcription, protein-containing complex assembly, negative regulation of B cell receptor signaling pathway, negative regulation of B cell receptor signaling pathway, endothelial cell migration, substrate adhesion-dependent cell spreading, regulation of cell adhesion mediated by integrin, transforming growth factor beta receptor signaling pathway, signal transduction, negative regulation of cell adhesion, cell adhesion, 135 145 251 273 287 369 300 246 218 ENSG00000110042 chr11 59171430 59208587 + DTX4 protein_coding 23220 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0061630, GO:0008270, GO:0004842, ubiquitin protein ligase activity, zinc ion binding, ubiquitin-protein transferase activity, GO:0032479, GO:0016567, GO:0016567, GO:0007219, regulation of type I interferon production, protein ubiquitination, protein ubiquitination, Notch signaling pathway, 384 403 454 165 394 245 221 306 244 ENSG00000110046 chr11 64894546 64917248 - ATG2A protein_coding 23130 GO:0043231, GO:0034045, GO:0019898, GO:0005829, GO:0005811, GO:0005789, GO:0005654, GO:0000407, intracellular membrane-bounded organelle, phagophore assembly site membrane, extrinsic component of membrane, cytosol, lipid droplet, endoplasmic reticulum membrane, nucleoplasm, phagophore assembly site, GO:0032266, GO:0005515, phosphatidylinositol-3-phosphate binding, protein binding, GO:0061709, GO:0044805, GO:0034727, GO:0000422, GO:0000045, GO:0000045, reticulophagy, late nucleophagy, piecemeal microautophagy of the nucleus, autophagy of mitochondrion, autophagosome assembly, autophagosome assembly, 6271 9461 9551 5615 6990 6495 6562 5483 5317 ENSG00000110047 chr11 64851642 64888296 - EHD1 protein_coding This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]. 10938 GO:0070062, GO:0055038, GO:0055038, GO:0048471, GO:0043231, GO:0031901, GO:0031095, GO:0030139, GO:0020018, GO:0016020, GO:0010008, GO:0010008, GO:0005886, GO:0005886, GO:0005811, GO:0005769, GO:0005737, extracellular exosome, recycling endosome membrane, recycling endosome membrane, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, early endosome membrane, platelet dense tubular network membrane, endocytic vesicle, ciliary pocket membrane, membrane, endosome membrane, endosome membrane, plasma membrane, plasma membrane, lipid droplet, early endosome, cytoplasm, GO:0045296, GO:0042802, GO:0031267, GO:0005525, GO:0005524, GO:0005515, GO:0005509, cadherin binding, identical protein binding, small GTPase binding, GTP binding, ATP binding, protein binding, calcium ion binding, GO:2001137, GO:1990090, GO:1901741, GO:0072659, GO:0061512, GO:0060271, GO:0060271, GO:0051260, GO:0042632, GO:0034383, GO:0032456, GO:0032456, GO:0032456, GO:0031175, GO:0016197, GO:0010886, GO:0007596, GO:0006897, GO:0006897, GO:0006886, positive regulation of endocytic recycling, cellular response to nerve growth factor stimulus, positive regulation of myoblast fusion, protein localization to plasma membrane, protein localization to cilium, cilium assembly, cilium assembly, protein homooligomerization, cholesterol homeostasis, low-density lipoprotein particle clearance, endocytic recycling, endocytic recycling, endocytic recycling, neuron projection development, endosomal transport, positive regulation of cholesterol storage, blood coagulation, endocytosis, endocytosis, intracellular protein transport, 2471 2562 12846 1925 2682 4652 3535 3080 5067 ENSG00000110048 chr11 59574398 59616144 - OSBP protein_coding Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]. 5007 GO:0097038, GO:0048471, GO:0043231, GO:0030054, GO:0016020, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005802, GO:0005794, GO:0005789, GO:0005737, GO:0005730, GO:0005654, GO:0000139, perinuclear endoplasmic reticulum, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, cell junction, membrane, membrane, plasma membrane, cytosol, cytosol, cytosol, trans-Golgi network, Golgi apparatus, endoplasmic reticulum membrane, cytoplasm, nucleolus, nucleoplasm, Golgi membrane, GO:0120015, GO:0070273, GO:0032934, GO:0019904, GO:0015248, GO:0015248, GO:0008142, GO:0005515, sterol transfer activity, phosphatidylinositol-4-phosphate binding, sterol binding, protein domain specific binding, sterol transporter activity, sterol transporter activity, oxysterol binding, protein binding, GO:0120009, GO:0032367, GO:0015918, GO:0006699, intermembrane lipid transfer, intracellular cholesterol transport, sterol transport, bile acid biosynthetic process, 1197 951 1398 556 582 717 551 405 520 ENSG00000110057 chr11 67991104 68004982 - UNC93B1 protein_coding This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]. 81622 GO:0032009, GO:0016021, GO:0005789, GO:0005783, GO:0005768, GO:0005768, GO:0005768, GO:0005764, GO:0005764, GO:0000139, early phagosome, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endosome, endosome, endosome, lysosome, lysosome, Golgi membrane, GO:0035325, GO:0005515, Toll-like receptor binding, protein binding, GO:0051607, GO:0045087, GO:0034162, GO:0034162, GO:0034154, GO:0034154, GO:0034138, GO:0034138, GO:0006886, GO:0006886, GO:0002250, GO:0002224, defense response to virus, innate immune response, toll-like receptor 9 signaling pathway, toll-like receptor 9 signaling pathway, toll-like receptor 7 signaling pathway, toll-like receptor 7 signaling pathway, toll-like receptor 3 signaling pathway, toll-like receptor 3 signaling pathway, intracellular protein transport, intracellular protein transport, adaptive immune response, toll-like receptor signaling pathway, 873 828 1017 459 694 515 496 600 597 ENSG00000110060 chr11 125893485 125903221 - PUS3 protein_coding The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 83480 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0106029, GO:0009982, GO:0009982, GO:0009982, GO:0003723, tRNA pseudouridine synthase activity, pseudouridine synthase activity, pseudouridine synthase activity, pseudouridine synthase activity, RNA binding, GO:1990481, GO:0031119, GO:0031119, GO:0006400, mRNA pseudouridine synthesis, tRNA pseudouridine synthesis, tRNA pseudouridine synthesis, tRNA modification, 23 7 12 26 11 16 8 4 22 ENSG00000110063 chr11 126303752 126345754 + DCPS protein_coding This gene encodes a member of the histidine triad family of pyrophosphatases that removes short mRNA fragments containing the 5' mRNA cap structure, which appear in the 3' -> 5' mRNA decay pathway, following deadenylation and exosome-mediated turnover. This enzyme hydrolyzes the triphosphate linkage of the cap structure (7-methylguanosine nucleoside triphosphate) to yield 7-methylguanosine monophosphate and nucleoside diphosphate. It protects the cell from the potentially toxic accumulation of these short, capped mRNA fragments, and regulates the activity of other cap-binding proteins, which are inhibited by their accumulation. It also acts as a transcript-specific modulator of pre-mRNA splicing and microRNA turnover. [provided by RefSeq, Apr 2017]. 28960 GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000932, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, P-body, GO:0050072, GO:0050072, GO:0042802, GO:0005515, GO:0004532, GO:0000340, GO:0000340, m7G(5')pppN diphosphatase activity, m7G(5')pppN diphosphatase activity, identical protein binding, protein binding, exoribonuclease activity, RNA 7-methylguanosine cap binding, RNA 7-methylguanosine cap binding, GO:0090503, GO:0045292, GO:0043928, GO:0043069, GO:0036245, GO:0000290, GO:0000288, RNA phosphodiester bond hydrolysis, exonucleolytic, mRNA cis splicing, via spliceosome, exonucleolytic catabolism of deadenylated mRNA, negative regulation of programmed cell death, cellular response to menadione, deadenylation-dependent decapping of nuclear-transcribed mRNA, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, 40 38 44 59 40 53 65 45 69 ENSG00000110066 chr11 68154863 68213828 - KMT5B protein_coding This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 51111 GO:0005654, GO:0005654, GO:0005634, GO:0000779, nucleoplasm, nucleoplasm, nucleus, condensed chromosome, centromeric region, GO:1904047, GO:0046872, GO:0042799, GO:0042799, GO:0042799, GO:0018024, GO:0005515, GO:0003682, S-adenosyl-L-methionine binding, metal ion binding, histone methyltransferase activity (H4-K20 specific), histone methyltransferase activity (H4-K20 specific), histone methyltransferase activity (H4-K20 specific), histone-lysine N-methyltransferase activity, protein binding, chromatin binding, GO:2001034, GO:0045830, GO:0034773, GO:0007517, GO:0006281, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of isotype switching, histone H4-K20 trimethylation, muscle organ development, DNA repair, 783 712 755 721 805 712 611 607 501 ENSG00000110074 chr11 126269055 126278131 + FOXRED1 protein_coding This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]. 55572 GO:0016021, GO:0005747, GO:0005747, GO:0005743, GO:0005739, GO:0005737, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, cytoplasm, GO:0016491, oxidoreductase activity, GO:0055114, GO:0032981, GO:0032981, oxidation-reduction process, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, 88 96 111 133 182 147 141 114 119 ENSG00000110075 chr11 68460731 68615334 + PPP6R3 protein_coding Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]. 55291 GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0000139, plasma membrane, cytosol, cytosol, cytosol, nucleoplasm, nucleus, Golgi membrane, GO:0019903, GO:0019888, GO:0005515, protein phosphatase binding, protein phosphatase regulator activity, protein binding, GO:0048208, GO:0043666, GO:0043666, COPII vesicle coating, regulation of phosphoprotein phosphatase activity, regulation of phosphoprotein phosphatase activity, 1430 1452 1606 884 1290 1094 1060 950 988 ENSG00000110076 chr11 64606174 64723188 - NRXN2 protein_coding This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]. 9379 GO:0098793, GO:0016021, GO:0005886, presynapse, integral component of membrane, plasma membrane, GO:0097109, GO:0050839, GO:0046872, GO:0005246, GO:0004888, neuroligin family protein binding, cell adhesion molecule binding, metal ion binding, calcium channel regulator activity, transmembrane signaling receptor activity, GO:0097119, GO:0097118, GO:0097116, GO:0097104, GO:0071625, GO:0042297, GO:0035176, GO:0030534, GO:0007416, GO:0007269, GO:0007268, GO:0007165, GO:0007158, postsynaptic density protein 95 clustering, neuroligin clustering involved in postsynaptic membrane assembly, gephyrin clustering involved in postsynaptic density assembly, postsynaptic membrane assembly, vocalization behavior, vocal learning, social behavior, adult behavior, synapse assembly, neurotransmitter secretion, chemical synaptic transmission, signal transduction, neuron cell-cell adhesion, 1 1 0 4 0 0 0 0 4 ENSG00000110077 chr11 60172014 60184666 - MS4A6A protein_coding This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]. 64231 GO:0016021, GO:0005802, integral component of membrane, trans-Golgi network, GO:0005515, protein binding, 393 248 195 210 230 212 209 206 147 ENSG00000110079 chr11 60185702 60317944 + MS4A4A protein_coding This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 51338 GO:0044853, GO:0016021, GO:0005886, GO:0005794, GO:0005783, plasma membrane raft, integral component of membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, GO:0005515, protein binding, 1 1 1 2 3 0 0 0 3 ENSG00000110080 chr11 126355640 126440344 + ST3GAL4 protein_coding This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 6484 GO:0032580, GO:0016021, GO:0016020, GO:0005576, GO:0000139, Golgi cisterna membrane, integral component of membrane, membrane, extracellular region, Golgi membrane, GO:0047288, GO:0047288, GO:0008373, GO:0008118, GO:0004513, GO:0003836, GO:0003836, GO:0003836, monosialoganglioside sialyltransferase activity, monosialoganglioside sialyltransferase activity, sialyltransferase activity, N-acetyllactosaminide alpha-2,3-sialyltransferase activity, neolactotetraosylceramide alpha-2,3-sialyltransferase activity, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, GO:1990743, GO:1903238, GO:0097503, GO:0050890, GO:0030259, GO:0030194, GO:0018146, GO:0016266, GO:0009312, GO:0009247, GO:0009247, GO:0009101, GO:0006486, GO:0006486, protein sialylation, positive regulation of leukocyte tethering or rolling, sialylation, cognition, lipid glycosylation, positive regulation of blood coagulation, keratan sulfate biosynthetic process, O-glycan processing, oligosaccharide biosynthetic process, glycolipid biosynthetic process, glycolipid biosynthetic process, glycoprotein biosynthetic process, protein glycosylation, protein glycosylation, 425 380 571 243 400 401 364 304 345 ENSG00000110090 chr11 68754620 68844410 - CPT1A protein_coding The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1374 GO:0031307, GO:0016020, GO:0005741, GO:0005741, GO:0005739, GO:0005739, integral component of mitochondrial outer membrane, membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:1990698, GO:0042802, GO:0004095, GO:0004095, GO:0004095, palmitoleoyltransferase activity, identical protein binding, carnitine O-palmitoyltransferase activity, carnitine O-palmitoyltransferase activity, carnitine O-palmitoyltransferase activity, GO:0071398, GO:0050796, GO:0045471, GO:0042755, GO:0042493, GO:0032000, GO:0030855, GO:0019216, GO:0014070, GO:0010883, GO:0009437, GO:0009437, GO:0007623, GO:0006853, GO:0006641, GO:0006635, GO:0006631, GO:0006006, GO:0001676, cellular response to fatty acid, regulation of insulin secretion, response to ethanol, eating behavior, response to drug, positive regulation of fatty acid beta-oxidation, epithelial cell differentiation, regulation of lipid metabolic process, response to organic cyclic compound, regulation of lipid storage, carnitine metabolic process, carnitine metabolic process, circadian rhythm, carnitine shuttle, triglyceride metabolic process, fatty acid beta-oxidation, fatty acid metabolic process, glucose metabolic process, long-chain fatty acid metabolic process, 276 293 438 281 257 407 338 228 338 ENSG00000110092 chr11 69641087 69654474 + CCND1 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]. 595 GO:0031965, GO:0017053, GO:0005923, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000307, GO:0000307, nuclear membrane, transcription repressor complex, bicellular tight junction, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, cyclin-dependent protein kinase holoenzyme complex, cyclin-dependent protein kinase holoenzyme complex, GO:0070064, GO:0044877, GO:0042826, GO:0019901, GO:0019899, GO:0016538, GO:0008134, GO:0005515, GO:0004672, GO:0003714, proline-rich region binding, protein-containing complex binding, histone deacetylase binding, protein kinase binding, enzyme binding, cyclin-dependent protein serine/threonine kinase regulator activity, transcription factor binding, protein binding, protein kinase activity, transcription corepressor activity, GO:1900087, GO:0097421, GO:0071157, GO:0070141, GO:0060749, GO:0051592, GO:0051412, GO:0051301, GO:0045787, GO:0045737, GO:0045471, GO:0045444, GO:0044772, GO:0044321, GO:0043627, GO:0042493, GO:0033601, GO:0033598, GO:0033327, GO:0033197, GO:0032355, GO:0032026, GO:0031571, GO:0030968, GO:0019221, GO:0016055, GO:0010971, GO:0010243, GO:0010165, GO:0010039, GO:0007595, GO:0006974, GO:0006468, GO:0006367, GO:0001934, GO:0000320, GO:0000122, GO:0000082, GO:0000082, GO:0000079, positive regulation of G1/S transition of mitotic cell cycle, liver regeneration, negative regulation of cell cycle arrest, response to UV-A, mammary gland alveolus development, response to calcium ion, response to corticosterone, cell division, positive regulation of cell cycle, positive regulation of cyclin-dependent protein serine/threonine kinase activity, response to ethanol, fat cell differentiation, mitotic cell cycle phase transition, response to leptin, response to estrogen, response to drug, positive regulation of mammary gland epithelial cell proliferation, mammary gland epithelial cell proliferation, Leydig cell differentiation, response to vitamin E, response to estradiol, response to magnesium ion, mitotic G1 DNA damage checkpoint, endoplasmic reticulum unfolded protein response, cytokine-mediated signaling pathway, Wnt signaling pathway, positive regulation of G2/M transition of mitotic cell cycle, response to organonitrogen compound, response to X-ray, response to iron ion, lactation, cellular response to DNA damage stimulus, protein phosphorylation, transcription initiation from RNA polymerase II promoter, positive regulation of protein phosphorylation, re-entry into mitotic cell cycle, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 6 6 7 3 3 19 9 3 3 ENSG00000110104 chr11 60842071 60851081 + CCDC86 protein_coding 79080 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0016032, viral process, 10 25 14 32 13 49 19 13 12 ENSG00000110107 chr11 60890730 60906588 - PRPF19 protein_coding PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]. 27339 GO:0071013, GO:0071013, GO:0071007, GO:0071006, GO:0035861, GO:0016607, GO:0016020, GO:0005819, GO:0005811, GO:0005737, GO:0005662, GO:0005654, GO:0005634, GO:0000974, GO:0000974, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, site of double-strand break, nuclear speck, membrane, spindle, lipid droplet, cytoplasm, DNA replication factor A complex, nucleoplasm, nucleus, Prp19 complex, Prp19 complex, GO:0061630, GO:0061630, GO:0042802, GO:0034450, GO:0005515, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, identical protein binding, ubiquitin-ubiquitin ligase activity, protein binding, ubiquitin-protein transferase activity, GO:0072422, GO:0070534, GO:0048711, GO:0048026, GO:0045666, GO:0034613, GO:0010498, GO:0008610, GO:0006303, GO:0006283, GO:0001833, GO:0000398, GO:0000398, GO:0000398, GO:0000349, GO:0000245, GO:0000244, GO:0000209, signal transduction involved in DNA damage checkpoint, protein K63-linked ubiquitination, positive regulation of astrocyte differentiation, positive regulation of mRNA splicing, via spliceosome, positive regulation of neuron differentiation, cellular protein localization, proteasomal protein catabolic process, lipid biosynthetic process, double-strand break repair via nonhomologous end joining, transcription-coupled nucleotide-excision repair, inner cell mass cell proliferation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, generation of catalytic spliceosome for first transesterification step, spliceosomal complex assembly, spliceosomal tri-snRNP complex assembly, protein polyubiquitination, 51 41 67 138 78 153 87 69 112 ENSG00000110108 chr11 60913874 60923443 + TMEM109 protein_coding 79073 GO:0070062, GO:0033017, GO:0016021, GO:0005640, extracellular exosome, sarcoplasmic reticulum membrane, integral component of membrane, nuclear outer membrane, GO:0005515, GO:0005244, GO:0003674, protein binding, voltage-gated ion channel activity, molecular_function, GO:0071480, GO:0071480, GO:0060548, GO:0060548, GO:0042771, GO:0034765, GO:0034220, cellular response to gamma radiation, cellular response to gamma radiation, negative regulation of cell death, negative regulation of cell death, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, regulation of ion transmembrane transport, ion transmembrane transport, 42 36 61 92 35 115 68 32 86 ENSG00000110148 chr11 6259736 6272127 + CCKBR protein_coding This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. Alternative splicing results in multiple transcript variants. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Dec 2015]. 887 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0046935, GO:0031741, GO:0017046, GO:0015054, GO:0005515, GO:0004951, 1-phosphatidylinositol-3-kinase regulator activity, type B gastrin/cholecystokinin receptor binding, peptide hormone binding, gastrin receptor activity, protein binding, cholecystokinin receptor activity, GO:0048732, GO:0048565, GO:0045851, GO:0043551, GO:0038188, GO:0008284, GO:0007204, GO:0007200, GO:0007186, GO:0007166, GO:0001696, gland development, digestive tract development, pH reduction, regulation of phosphatidylinositol 3-kinase activity, cholecystokinin signaling pathway, positive regulation of cell population proliferation, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, gastric acid secretion, 0 0 0 1 0 0 0 0 0 ENSG00000110169 chr11 6431049 6442617 - HPX protein_coding This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009]. 3263 GO:0072562, GO:0071682, GO:0070062, GO:0062023, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, endocytic vesicle lumen, extracellular exosome, collagen-containing extracellular matrix, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0046872, GO:0015232, GO:0005515, metal ion binding, heme transmembrane transporter activity, protein binding, GO:0060335, GO:0042531, GO:0042168, GO:0020027, GO:0016032, GO:0015886, GO:0006898, GO:0006879, GO:0002925, GO:0002639, positive regulation of interferon-gamma-mediated signaling pathway, positive regulation of tyrosine phosphorylation of STAT protein, heme metabolic process, hemoglobin metabolic process, viral process, heme transport, receptor-mediated endocytosis, cellular iron ion homeostasis, positive regulation of humoral immune response mediated by circulating immunoglobulin, positive regulation of immunoglobulin production, 1 6 5 3 9 0 0 2 0 ENSG00000110171 chr11 6448613 6474459 - TRIM3 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]. 10612 GO:0030425, GO:0005794, GO:0005769, GO:0005737, dendrite, Golgi apparatus, early endosome, cytoplasm, GO:0061630, GO:0042802, GO:0008270, GO:0008022, GO:0005515, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, protein C-terminus binding, protein binding, GO:0043161, GO:0015031, GO:0007399, GO:0000209, proteasome-mediated ubiquitin-dependent protein catabolic process, protein transport, nervous system development, protein polyubiquitination, 49 50 68 58 57 77 67 60 57 ENSG00000110172 chr11 90201160 90223364 - CHORDC1 protein_coding 26973 GO:0005575, cellular_component, GO:0051879, GO:0043531, GO:0008270, GO:0005524, GO:0005515, Hsp90 protein binding, ADP binding, zinc ion binding, ATP binding, protein binding, GO:2000299, GO:1900034, GO:0061077, GO:0051298, GO:0010824, negative regulation of Rho-dependent protein serine/threonine kinase activity, regulation of cellular response to heat, chaperone-mediated protein folding, centrosome duplication, regulation of centrosome duplication, 333 405 779 897 470 755 621 243 317 ENSG00000110195 chr11 72189558 72196323 + FOLR1 protein_coding The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]. 2348 GO:0070062, GO:0033116, GO:0031526, GO:0031362, GO:0031362, GO:0030136, GO:0030133, GO:0016324, GO:0016323, GO:0016020, GO:0012507, GO:0009986, GO:0005886, GO:0005789, GO:0005768, GO:0005634, GO:0000139, extracellular exosome, endoplasmic reticulum-Golgi intermediate compartment membrane, brush border membrane, anchored component of external side of plasma membrane, anchored component of external side of plasma membrane, clathrin-coated vesicle, transport vesicle, apical plasma membrane, basolateral plasma membrane, membrane, ER to Golgi transport vesicle membrane, cell surface, plasma membrane, endoplasmic reticulum membrane, endosome, nucleus, Golgi membrane, GO:0061714, GO:0061714, GO:0051870, GO:0038023, GO:0008144, GO:0005542, GO:0005542, GO:0005515, folic acid receptor activity, folic acid receptor activity, methotrexate binding, signaling receptor activity, drug binding, folic acid binding, folic acid binding, protein binding, GO:1904447, GO:0071231, GO:0061713, GO:0061626, GO:0060828, GO:0048208, GO:0046655, GO:0035036, GO:0031103, GO:0017015, GO:0015884, GO:0007342, GO:0007155, GO:0006898, GO:0006888, GO:0003253, GO:0003147, GO:0001947, folate import across plasma membrane, cellular response to folic acid, anterior neural tube closure, pharyngeal arch artery morphogenesis, regulation of canonical Wnt signaling pathway, COPII vesicle coating, folic acid metabolic process, sperm-egg recognition, axon regeneration, regulation of transforming growth factor beta receptor signaling pathway, folic acid transport, fusion of sperm to egg plasma membrane involved in single fertilization, cell adhesion, receptor-mediated endocytosis, endoplasmic reticulum to Golgi vesicle-mediated transport, cardiac neural crest cell migration involved in outflow tract morphogenesis, neural crest cell migration involved in heart formation, heart looping, 1 0 0 0 0 0 0 0 0 ENSG00000110200 chr11 72106378 72112780 - ANAPC15 protein_coding 25906 GO:0005829, GO:0005680, GO:0005680, GO:0005654, cytosol, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, GO:0005515, protein binding, GO:1901990, GO:0090266, GO:0090266, GO:0051301, GO:0031145, GO:0007049, GO:0006511, regulation of mitotic cell cycle phase transition, regulation of mitotic cell cycle spindle assembly checkpoint, regulation of mitotic cell cycle spindle assembly checkpoint, cell division, anaphase-promoting complex-dependent catabolic process, cell cycle, ubiquitin-dependent protein catabolic process, 75 75 98 103 114 144 76 63 104 ENSG00000110203 chr11 72114869 72139892 + FOLR3 protein_coding This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 2352 GO:1904724, GO:0035580, GO:0031362, GO:0019898, GO:0016020, GO:0005576, tertiary granule lumen, specific granule lumen, anchored component of external side of plasma membrane, extrinsic component of membrane, membrane, extracellular region, GO:0038023, GO:0005542, GO:0005515, signaling receptor activity, folic acid binding, protein binding, GO:0043312, GO:0035036, GO:0015884, GO:0007342, GO:0007155, neutrophil degranulation, sperm-egg recognition, folic acid transport, fusion of sperm to egg plasma membrane involved in single fertilization, cell adhesion, 82 51 286 18 77 79 44 70 61 ENSG00000110218 chr11 94128928 94181972 + PANX1 protein_coding The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]. 24145 GO:0032991, GO:0032059, GO:0016021, GO:0016020, GO:0005921, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005783, protein-containing complex, bleb, integral component of membrane, membrane, gap junction, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0097110, GO:0055077, GO:0051015, GO:0044325, GO:0022840, GO:0022829, GO:0005515, GO:0005262, GO:0005198, GO:0005102, GO:0002020, scaffold protein binding, gap junction hemi-channel activity, actin filament binding, ion channel binding, leak channel activity, wide pore channel activity, protein binding, calcium channel activity, structural molecule activity, signaling receptor binding, protease binding, GO:0070588, GO:0048477, GO:0033198, GO:0032731, GO:0032730, GO:0007267, GO:0006816, GO:0006812, GO:0006812, GO:0002931, GO:0001819, calcium ion transmembrane transport, oogenesis, response to ATP, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 alpha production, cell-cell signaling, calcium ion transport, cation transport, cation transport, response to ischemia, positive regulation of cytokine production, 8 9 14 31 11 16 24 2 16 ENSG00000110237 chr11 73308289 73369388 + ARHGEF17 protein_coding 9828 GO:0005829, cytosol, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0043065, GO:0030036, GO:0030036, GO:0007186, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, actin cytoskeleton organization, actin cytoskeleton organization, G protein-coupled receptor signaling pathway, 1 4 14 10 12 16 1 4 13 ENSG00000110243 chr11 116789367 116792420 - APOA5 protein_coding The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]. 116519 GO:0042627, GO:0042627, GO:0034364, GO:0034364, GO:0034362, GO:0034361, GO:0005794, GO:0005788, GO:0005770, GO:0005769, GO:0005615, GO:0005576, GO:0005576, chylomicron, chylomicron, high-density lipoprotein particle, high-density lipoprotein particle, low-density lipoprotein particle, very-low-density lipoprotein particle, Golgi apparatus, endoplasmic reticulum lumen, late endosome, early endosome, extracellular space, extracellular region, extracellular region, GO:0070325, GO:0060230, GO:0060229, GO:0060228, GO:0050750, GO:0035473, GO:0031210, GO:0031210, GO:0019899, GO:0015485, GO:0008289, GO:0008201, GO:0008047, GO:0005543, GO:0005543, GO:0005515, lipoprotein particle receptor binding, lipoprotein lipase activator activity, lipase activator activity, phosphatidylcholine-sterol O-acyltransferase activator activity, low-density lipoprotein particle receptor binding, lipase binding, phosphatidylcholine binding, phosphatidylcholine binding, enzyme binding, cholesterol binding, lipid binding, heparin binding, enzyme activator activity, phospholipid binding, phospholipid binding, protein binding, GO:0070328, GO:0070328, GO:0070328, GO:0055090, GO:0055090, GO:0051006, GO:0051006, GO:0050996, GO:0048260, GO:0046889, GO:0046470, GO:0045723, GO:0045723, GO:0044267, GO:0043687, GO:0042632, GO:0042632, GO:0042246, GO:0042157, GO:0034380, GO:0034372, GO:0033700, GO:0033344, GO:0030300, GO:0019433, GO:0019216, GO:0010902, GO:0010898, GO:0010898, GO:0010873, GO:0006869, GO:0006695, GO:0006641, GO:0006641, triglyceride homeostasis, triglyceride homeostasis, triglyceride homeostasis, acylglycerol homeostasis, acylglycerol homeostasis, positive regulation of lipoprotein lipase activity, positive regulation of lipoprotein lipase activity, positive regulation of lipid catabolic process, positive regulation of receptor-mediated endocytosis, positive regulation of lipid biosynthetic process, phosphatidylcholine metabolic process, positive regulation of fatty acid biosynthetic process, positive regulation of fatty acid biosynthetic process, cellular protein metabolic process, post-translational protein modification, cholesterol homeostasis, cholesterol homeostasis, tissue regeneration, lipoprotein metabolic process, high-density lipoprotein particle assembly, very-low-density lipoprotein particle remodeling, phospholipid efflux, cholesterol efflux, regulation of intestinal cholesterol absorption, triglyceride catabolic process, regulation of lipid metabolic process, positive regulation of very-low-density lipoprotein particle remodeling, positive regulation of triglyceride catabolic process, positive regulation of triglyceride catabolic process, positive regulation of cholesterol esterification, lipid transport, cholesterol biosynthetic process, triglyceride metabolic process, triglyceride metabolic process, 0 0 0 0 0 0 2 1 0 ENSG00000110244 chr11 116820700 116823306 - APOA4 protein_coding Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]. 337 GO:0072562, GO:0070062, GO:0062023, GO:0042627, GO:0042627, GO:0034364, GO:0034364, GO:0034361, GO:0009986, GO:0005829, GO:0005788, GO:0005769, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, chylomicron, chylomicron, high-density lipoprotein particle, high-density lipoprotein particle, very-low-density lipoprotein particle, cell surface, cytosol, endoplasmic reticulum lumen, early endosome, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0120020, GO:0060228, GO:0060228, GO:0042803, GO:0042802, GO:0031210, GO:0031210, GO:0016209, GO:0015485, GO:0008289, GO:0005543, GO:0005515, GO:0005507, GO:0005319, cholesterol transfer activity, phosphatidylcholine-sterol O-acyltransferase activator activity, phosphatidylcholine-sterol O-acyltransferase activator activity, protein homodimerization activity, identical protein binding, phosphatidylcholine binding, phosphatidylcholine binding, antioxidant activity, cholesterol binding, lipid binding, phospholipid binding, protein binding, copper ion binding, lipid transporter activity, GO:0120009, GO:0070328, GO:0065005, GO:0055088, GO:0051006, GO:0051006, GO:0046889, GO:0046470, GO:0046470, GO:0045723, GO:0045723, GO:0044267, GO:0043691, GO:0043691, GO:0042744, GO:0042632, GO:0042632, GO:0042157, GO:0035634, GO:0034445, GO:0034380, GO:0034378, GO:0034375, GO:0034372, GO:0034372, GO:0034371, GO:0034371, GO:0033700, GO:0033700, GO:0033344, GO:0033344, GO:0032374, GO:0030300, GO:0019430, GO:0016042, GO:0010898, GO:0010898, GO:0010873, GO:0010873, GO:0008203, GO:0007159, GO:0006982, GO:0006869, GO:0006695, GO:0002227, GO:0001523, intermembrane lipid transfer, triglyceride homeostasis, protein-lipid complex assembly, lipid homeostasis, positive regulation of lipoprotein lipase activity, positive regulation of lipoprotein lipase activity, positive regulation of lipid biosynthetic process, phosphatidylcholine metabolic process, phosphatidylcholine metabolic process, positive regulation of fatty acid biosynthetic process, positive regulation of fatty acid biosynthetic process, cellular protein metabolic process, reverse cholesterol transport, reverse cholesterol transport, hydrogen peroxide catabolic process, cholesterol homeostasis, cholesterol homeostasis, lipoprotein metabolic process, response to stilbenoid, negative regulation of plasma lipoprotein oxidation, high-density lipoprotein particle assembly, chylomicron assembly, high-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, chylomicron remodeling, chylomicron remodeling, phospholipid efflux, phospholipid efflux, cholesterol efflux, cholesterol efflux, regulation of cholesterol transport, regulation of intestinal cholesterol absorption, removal of superoxide radicals, lipid catabolic process, positive regulation of triglyceride catabolic process, positive regulation of triglyceride catabolic process, positive regulation of cholesterol esterification, positive regulation of cholesterol esterification, cholesterol metabolic process, leukocyte cell-cell adhesion, response to lipid hydroperoxide, lipid transport, cholesterol biosynthetic process, innate immune response in mucosa, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000110245 chr11 116829706 116833072 + APOC3 protein_coding This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]. 345 GO:0070062, GO:0062023, GO:0042627, GO:0042627, GO:0034366, GO:0034366, GO:0034363, GO:0034363, GO:0034361, GO:0034361, GO:0005769, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, chylomicron, chylomicron, spherical high-density lipoprotein particle, spherical high-density lipoprotein particle, intermediate-density lipoprotein particle, intermediate-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, early endosome, extracellular space, extracellular region, GO:0070653, GO:0070653, GO:0055102, GO:0055102, GO:0030234, GO:0015485, GO:0005543, GO:0005543, GO:0005515, high-density lipoprotein particle receptor binding, high-density lipoprotein particle receptor binding, lipase inhibitor activity, lipase inhibitor activity, enzyme regulator activity, cholesterol binding, phospholipid binding, phospholipid binding, protein binding, GO:0070328, GO:0070328, GO:0060621, GO:0051005, GO:0051005, GO:0050995, GO:0048261, GO:0045833, GO:0045717, GO:0043691, GO:0042632, GO:0042632, GO:0042157, GO:0034382, GO:0034379, GO:0034378, GO:0034375, GO:0034375, GO:0034371, GO:0033700, GO:0033344, GO:0032489, GO:0019433, GO:0010989, GO:0010989, GO:0010987, GO:0010987, GO:0010916, GO:0010916, GO:0010903, GO:0010903, GO:0010897, GO:0010897, GO:0007186, GO:0006641, GO:0001523, triglyceride homeostasis, triglyceride homeostasis, negative regulation of cholesterol import, negative regulation of lipoprotein lipase activity, negative regulation of lipoprotein lipase activity, negative regulation of lipid catabolic process, negative regulation of receptor-mediated endocytosis, negative regulation of lipid metabolic process, negative regulation of fatty acid biosynthetic process, reverse cholesterol transport, cholesterol homeostasis, cholesterol homeostasis, lipoprotein metabolic process, chylomicron remnant clearance, very-low-density lipoprotein particle assembly, chylomicron assembly, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, chylomicron remodeling, phospholipid efflux, cholesterol efflux, regulation of Cdc42 protein signal transduction, triglyceride catabolic process, negative regulation of low-density lipoprotein particle clearance, negative regulation of low-density lipoprotein particle clearance, negative regulation of high-density lipoprotein particle clearance, negative regulation of high-density lipoprotein particle clearance, negative regulation of very-low-density lipoprotein particle clearance, negative regulation of very-low-density lipoprotein particle clearance, negative regulation of very-low-density lipoprotein particle remodeling, negative regulation of very-low-density lipoprotein particle remodeling, negative regulation of triglyceride catabolic process, negative regulation of triglyceride catabolic process, G protein-coupled receptor signaling pathway, triglyceride metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000110274 chr11 117314557 117413268 + CEP164 protein_coding This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 22897 GO:0097539, GO:0097539, GO:0043231, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005654, GO:0005654, GO:0005615, ciliary transition fiber, ciliary transition fiber, intracellular membrane-bounded organelle, cytosol, centriole, centriole, centrosome, centrosome, nucleoplasm, nucleoplasm, extracellular space, GO:0005515, protein binding, GO:0097711, GO:0060271, GO:0060271, GO:0051301, GO:0010389, GO:0006281, GO:0000086, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, cell division, regulation of G2/M transition of mitotic cell cycle, DNA repair, G2/M transition of mitotic cell cycle, 323 355 424 339 368 310 376 264 349 ENSG00000110315 chr11 10511678 10541230 - RNF141 protein_coding The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008]. 50862 GO:0016020, membrane, GO:0046872, GO:0005515, GO:0004842, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0051865, GO:0051865, GO:0006355, protein autoubiquitination, protein autoubiquitination, regulation of transcription, DNA-templated, 2928 2419 2819 616 1691 1188 1077 1469 1178 ENSG00000110318 chr11 101915015 102001058 + CEP126 protein_coding 57562 GO:0097546, GO:0097546, GO:0030496, GO:0030496, GO:0005813, GO:0005813, GO:0005737, ciliary base, ciliary base, midbody, midbody, centrosome, centrosome, cytoplasm, GO:0005515, protein binding, GO:1905515, GO:0060271, GO:0060271, GO:0031122, GO:0031122, GO:0007052, non-motile cilium assembly, cilium assembly, cilium assembly, cytoplasmic microtubule organization, cytoplasmic microtubule organization, mitotic spindle organization, 6 4 8 15 8 11 27 4 7 ENSG00000110321 chr11 10797050 10809110 - EIF4G2 protein_coding Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]. 1982 GO:0016281, GO:0016281, GO:0016020, GO:0005912, GO:0005829, GO:0005829, eukaryotic translation initiation factor 4F complex, eukaryotic translation initiation factor 4F complex, membrane, adherens junction, cytosol, cytosol, GO:0045296, GO:0008135, GO:0005515, GO:0003743, GO:0003743, GO:0003729, GO:0003723, cadherin binding, translation factor activity, RNA binding, protein binding, translation initiation factor activity, translation initiation factor activity, mRNA binding, RNA binding, GO:0034645, GO:0030307, GO:0010507, GO:0008219, GO:0007050, GO:0006446, GO:0006413, cellular macromolecule biosynthetic process, positive regulation of cell growth, negative regulation of autophagy, cell death, cell cycle arrest, regulation of translational initiation, translational initiation, 6493 6220 8811 3577 3424 4330 3537 2822 3199 ENSG00000110324 chr11 117986348 118003037 + IL10RA protein_coding The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]. 3587 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0038023, GO:0019969, GO:0005515, GO:0004920, GO:0004896, signaling receptor activity, interleukin-10 binding, protein binding, interleukin-10 receptor activity, cytokine receptor activity, GO:0070086, GO:0050807, GO:0046427, GO:0032496, GO:0019221, GO:0019221, GO:0010507, ubiquitin-dependent endocytosis, regulation of synapse organization, positive regulation of receptor signaling pathway via JAK-STAT, response to lipopolysaccharide, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, negative regulation of autophagy, 1138 1351 2601 1036 1149 2125 1210 901 1631 ENSG00000110328 chr11 11270876 11622005 - GALNT18 protein_coding 374378 GO:0016021, GO:0005794, GO:0005575, GO:0000139, integral component of membrane, Golgi apparatus, cellular_component, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0006493, protein O-linked glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000110330 chr11 102347211 102378670 + BIRC2 protein_coding The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 329 GO:0045121, GO:0035631, GO:0009898, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0001741, membrane raft, CD40 receptor complex, cytoplasmic side of plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, XY body, GO:0098770, GO:0061630, GO:0051087, GO:0047485, GO:0044877, GO:0043130, GO:0043027, GO:0042802, GO:0016740, GO:0008270, GO:0005515, GO:0004842, GO:0004842, GO:0004842, GO:0003713, FBXO family protein binding, ubiquitin protein ligase activity, chaperone binding, protein N-terminus binding, protein-containing complex binding, ubiquitin binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, identical protein binding, transferase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, transcription coactivator activity, GO:2000377, GO:2000116, GO:1990001, GO:1903508, GO:1902527, GO:1902524, GO:1902523, GO:1902443, GO:1901222, GO:0070424, GO:0070266, GO:0060546, GO:0060544, GO:0060544, GO:0051726, GO:0051591, GO:0050727, GO:0045595, GO:0045471, GO:0045088, GO:0043161, GO:0043154, GO:0043123, GO:0043066, GO:0043066, GO:0042981, GO:0042127, GO:0039535, GO:0038061, GO:0035666, GO:0034121, GO:0033209, GO:0031398, GO:0016579, GO:0010803, GO:0007249, GO:0007166, GO:0006915, GO:0002756, GO:0001890, GO:0001666, GO:0000209, regulation of reactive oxygen species metabolic process, regulation of cysteine-type endopeptidase activity, inhibition of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of nucleic acid-templated transcription, positive regulation of protein monoubiquitination, positive regulation of protein K48-linked ubiquitination, positive regulation of protein K63-linked ubiquitination, negative regulation of ripoptosome assembly involved in necroptotic process, regulation of NIK/NF-kappaB signaling, regulation of nucleotide-binding oligomerization domain containing signaling pathway, necroptotic process, negative regulation of necroptotic process, regulation of necroptotic process, regulation of necroptotic process, regulation of cell cycle, response to cAMP, regulation of inflammatory response, regulation of cell differentiation, response to ethanol, regulation of innate immune response, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, negative regulation of apoptotic process, regulation of apoptotic process, regulation of cell population proliferation, regulation of RIG-I signaling pathway, NIK/NF-kappaB signaling, TRIF-dependent toll-like receptor signaling pathway, regulation of toll-like receptor signaling pathway, tumor necrosis factor-mediated signaling pathway, positive regulation of protein ubiquitination, protein deubiquitination, regulation of tumor necrosis factor-mediated signaling pathway, I-kappaB kinase/NF-kappaB signaling, cell surface receptor signaling pathway, apoptotic process, MyD88-independent toll-like receptor signaling pathway, placenta development, response to hypoxia, protein polyubiquitination, 1046 898 1734 775 833 1017 790 801 813 ENSG00000110344 chr11 118359585 118399211 + UBE4A protein_coding This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]. 9354 GO:0005737, GO:0005634, GO:0000151, cytoplasm, nucleus, ubiquitin ligase complex, GO:0034450, GO:0005515, ubiquitin-ubiquitin ligase activity, protein binding, GO:0030433, GO:0006511, GO:0000209, ubiquitin-dependent ERAD pathway, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 1104 1221 1441 1030 1461 1316 1130 1013 965 ENSG00000110367 chr11 118747766 118791149 - DDX6 protein_coding This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]. 1656 GO:0097227, GO:0061830, GO:0048471, GO:0036464, GO:0033391, GO:0016442, GO:0016020, GO:0010494, GO:0010494, GO:0005912, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005730, GO:0005634, GO:0001520, GO:0000932, GO:0000932, GO:0000932, GO:0000792, sperm annulus, concave side of sperm head, perinuclear region of cytoplasm, cytoplasmic ribonucleoprotein granule, chromatoid body, RISC complex, membrane, cytoplasmic stress granule, cytoplasmic stress granule, adherens junction, cytosol, cytosol, mitochondrion, cytoplasm, nucleolus, nucleus, outer dense fiber, P-body, P-body, P-body, heterochromatin, GO:0045296, GO:0019904, GO:0005524, GO:0005515, GO:0004386, GO:0003729, GO:0003724, GO:0003723, cadherin binding, protein domain specific binding, ATP binding, protein binding, helicase activity, mRNA binding, RNA helicase activity, RNA binding, GO:1905618, GO:0048515, GO:0045665, GO:0043928, GO:0034063, GO:0033962, GO:0033962, GO:0033962, GO:0019827, GO:0019074, GO:0017148, positive regulation of miRNA mediated inhibition of translation, spermatid differentiation, negative regulation of neuron differentiation, exonucleolytic catabolism of deadenylated mRNA, stress granule assembly, P-body assembly, P-body assembly, P-body assembly, stem cell population maintenance, viral RNA genome packaging, negative regulation of translation, 3599 3820 5330 1450 2138 2074 1635 1779 1695 ENSG00000110375 chr11 118925164 118958559 + UPK2 protein_coding This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009]. 7379 GO:0070062, GO:0016324, GO:0005887, extracellular exosome, apical plasma membrane, integral component of plasma membrane, GO:0005515, protein binding, GO:0030855, GO:0030855, GO:0007275, epithelial cell differentiation, epithelial cell differentiation, multicellular organism development, 7 5 9 3 0 6 4 7 5 ENSG00000110395 chr11 119206276 119313926 + CBL protein_coding This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]. 867 GO:0048471, GO:0045121, GO:0030426, GO:0016600, GO:0005929, GO:0005925, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005794, perinuclear region of cytoplasm, membrane raft, growth cone, flotillin complex, cilium, focal adhesion, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, GO:0061630, GO:0061630, GO:0046875, GO:0045296, GO:0036312, GO:0030971, GO:0017124, GO:0017124, GO:0005515, GO:0005509, GO:0005154, GO:0004842, GO:0001784, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ephrin receptor binding, cadherin binding, phosphatidylinositol 3-kinase regulatory subunit binding, receptor tyrosine kinase binding, SH3 domain binding, SH3 domain binding, protein binding, calcium ion binding, epidermal growth factor receptor binding, ubiquitin-protein transferase activity, phosphotyrosine residue binding, GO:2000583, GO:1990090, GO:1901215, GO:0090650, GO:0071364, GO:0070997, GO:0070102, GO:0061024, GO:0048260, GO:0048260, GO:0046677, GO:0045742, GO:0045471, GO:0043303, GO:0043066, GO:0042594, GO:0042059, GO:0042059, GO:0036120, GO:0035635, GO:0033574, GO:0032487, GO:0019221, GO:0016567, GO:0016567, GO:0016567, GO:0014823, GO:0014068, GO:0010332, GO:0008584, GO:0008543, GO:0007179, GO:0007175, GO:0007173, GO:0007166, GO:0007165, GO:0006974, GO:0006513, GO:0006511, GO:0000209, regulation of platelet-derived growth factor receptor-alpha signaling pathway, cellular response to nerve growth factor stimulus, negative regulation of neuron death, cellular response to oxygen-glucose deprivation, cellular response to epidermal growth factor stimulus, neuron death, interleukin-6-mediated signaling pathway, membrane organization, positive regulation of receptor-mediated endocytosis, positive regulation of receptor-mediated endocytosis, response to antibiotic, positive regulation of epidermal growth factor receptor signaling pathway, response to ethanol, mast cell degranulation, negative regulation of apoptotic process, response to starvation, negative regulation of epidermal growth factor receptor signaling pathway, negative regulation of epidermal growth factor receptor signaling pathway, cellular response to platelet-derived growth factor stimulus, entry of bacterium into host cell, response to testosterone, regulation of Rap protein signal transduction, cytokine-mediated signaling pathway, protein ubiquitination, protein ubiquitination, protein ubiquitination, response to activity, positive regulation of phosphatidylinositol 3-kinase signaling, response to gamma radiation, male gonad development, fibroblast growth factor receptor signaling pathway, transforming growth factor beta receptor signaling pathway, negative regulation of epidermal growth factor-activated receptor activity, epidermal growth factor receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, cellular response to DNA damage stimulus, protein monoubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 3036 3277 3785 1472 2553 2373 1845 2088 2217 ENSG00000110400 chr11 119623408 119729084 - NECTIN1 protein_coding This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]. 5818 GO:0044291, GO:0043296, GO:0043231, GO:0042734, GO:0032584, GO:0030425, GO:0016021, GO:0016020, GO:0005912, GO:0005912, GO:0005912, GO:0005886, GO:0005576, cell-cell contact zone, apical junction complex, intracellular membrane-bounded organelle, presynaptic membrane, growth cone membrane, dendrite, integral component of membrane, membrane, adherens junction, adherens junction, adherens junction, plasma membrane, extracellular region, GO:0050839, GO:0046790, GO:0044877, GO:0042803, GO:0042802, GO:0030246, GO:0015026, GO:0005515, GO:0001618, cell adhesion molecule binding, virion binding, protein-containing complex binding, protein homodimerization activity, identical protein binding, carbohydrate binding, coreceptor activity, protein binding, virus receptor activity, GO:1902414, GO:0098609, GO:0070166, GO:0060041, GO:0051963, GO:0046718, GO:0034332, GO:0019062, GO:0007411, GO:0007157, GO:0007157, GO:0007156, GO:0007156, GO:0007155, GO:0006955, GO:0006826, GO:0002934, GO:0002089, protein localization to cell junction, cell-cell adhesion, enamel mineralization, retina development in camera-type eye, regulation of synapse assembly, viral entry into host cell, adherens junction organization, virion attachment to host cell, axon guidance, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, immune response, iron ion transport, desmosome organization, lens morphogenesis in camera-type eye, 154 150 226 46 85 67 60 78 62 ENSG00000110422 chr11 33256672 33357023 + HIPK3 protein_coding 10114 GO:0016605, GO:0016604, GO:0005829, GO:0005737, GO:0005634, PML body, nuclear body, cytosol, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004713, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0043508, GO:0043066, GO:0018108, GO:0018107, GO:0018107, GO:0018105, GO:0018105, GO:0009299, GO:0006915, GO:0006468, negative regulation of JUN kinase activity, negative regulation of apoptotic process, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, mRNA transcription, apoptotic process, protein phosphorylation, 6751 6121 6712 2694 4488 3698 3401 3319 3047 ENSG00000110427 chr11 33376466 33674102 + KIAA1549L protein_coding 25758 GO:0016021, integral component of membrane, 0 0 0 0 0 0 2 0 0 ENSG00000110429 chr11 33740939 33774543 - FBXO3 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]. 26273 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0016567, GO:0006508, protein ubiquitination, proteolysis, 348 396 529 416 530 634 585 452 493 ENSG00000110435 chr11 34915829 35020591 + PDHX protein_coding The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]. 8050 GO:0045254, GO:0045254, GO:0005759, GO:0005739, pyruvate dehydrogenase complex, pyruvate dehydrogenase complex, mitochondrial matrix, mitochondrion, GO:0034604, GO:0034604, GO:0016746, GO:0005515, pyruvate dehydrogenase (NAD+) activity, pyruvate dehydrogenase (NAD+) activity, transferase activity, transferring acyl groups, protein binding, GO:0061732, GO:0006090, mitochondrial acetyl-CoA biosynthetic process from pyruvate, pyruvate metabolic process, 43 30 51 53 34 65 41 24 14 ENSG00000110436 chr11 35251205 35420063 - SLC1A2 protein_coding This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]. 6506 GO:0099056, GO:0098796, GO:0098796, GO:0097449, GO:0045121, GO:0045121, GO:0044297, GO:0030673, GO:0016020, GO:0009986, GO:0005887, GO:0005886, integral component of presynaptic membrane, membrane protein complex, membrane protein complex, astrocyte projection, membrane raft, membrane raft, cell body, axolemma, membrane, cell surface, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0015501, GO:0005515, GO:0005314, GO:0005313, metal ion binding, glutamate:sodium symporter activity, protein binding, high-affinity glutamate transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:0150104, GO:0150104, GO:0098712, GO:0098712, GO:0070779, GO:0070778, GO:0070633, GO:0070207, GO:0046326, GO:0043200, GO:0042493, GO:0035264, GO:0031668, GO:0030534, GO:0021537, GO:0015813, GO:0014047, GO:0010259, GO:0009611, GO:0007632, GO:0007268, GO:0006811, transport across blood-brain barrier, transport across blood-brain barrier, L-glutamate import across plasma membrane, L-glutamate import across plasma membrane, D-aspartate import across plasma membrane, L-aspartate transmembrane transport, transepithelial transport, protein homotrimerization, positive regulation of glucose import, response to amino acid, response to drug, multicellular organism growth, cellular response to extracellular stimulus, adult behavior, telencephalon development, L-glutamate transmembrane transport, glutamate secretion, multicellular organism aging, response to wounding, visual behavior, chemical synaptic transmission, ion transport, 1 0 0 2 0 0 2 0 0 ENSG00000110442 chr11 36269284 36289449 - COMMD9 protein_coding 29099 GO:1904813, GO:0034774, GO:0005829, GO:0005794, GO:0005654, GO:0005576, ficolin-1-rich granule lumen, secretory granule lumen, cytosol, Golgi apparatus, nucleoplasm, extracellular region, GO:0005515, protein binding, GO:0043312, GO:0042632, GO:0006814, neutrophil degranulation, cholesterol homeostasis, sodium ion transport, 56 45 51 55 64 51 56 65 58 ENSG00000110446 chr11 60937084 60952530 - SLC15A3 protein_coding 51296 GO:0043231, GO:0016021, GO:0010008, GO:0005765, GO:0005765, GO:0005765, intracellular membrane-bounded organelle, integral component of membrane, endosome membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, GO:0071916, GO:0015647, GO:0015293, GO:0005515, dipeptide transmembrane transporter activity, peptidoglycan transmembrane transporter activity, symporter activity, protein binding, GO:0140206, GO:0070434, GO:0045087, GO:0015835, GO:0015031, GO:0006811, dipeptide import across plasma membrane, positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, innate immune response, peptidoglycan transport, protein transport, ion transport, 2488 1964 3124 1401 1655 1684 1866 1563 1525 ENSG00000110448 chr11 61102395 61127852 + CD5 protein_coding This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. This protein is a type-I transmembrane glycoprotein found on the surface of thymocytes, T lymphocytes and a subset of B lymphocytes. The encoded protein contains three SRCR domains and may act as a receptor to regulate T-cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]. 921 GO:0009897, GO:0005887, GO:0005886, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0005044, signaling receptor activity, protein binding, scavenger receptor activity, GO:0097190, GO:0031295, GO:0008037, GO:0006897, apoptotic signaling pathway, T cell costimulation, cell recognition, endocytosis, 278 187 609 506 115 589 509 123 482 ENSG00000110455 chr11 44065925 44084222 + ACCS protein_coding 84680 GO:0042802, GO:0030170, GO:0016847, GO:0005515, identical protein binding, pyridoxal phosphate binding, 1-aminocyclopropane-1-carboxylate synthase activity, protein binding, GO:0042218, 1-aminocyclopropane-1-carboxylate biosynthetic process, 182 227 303 212 245 265 268 187 170 ENSG00000110484 chr11 62270155 62273156 + SCGB2A2 protein_coding 4250 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0030521, GO:0008150, androgen receptor signaling pathway, biological_process, 0 0 0 2 0 0 0 0 0 ENSG00000110492 chr11 46380756 46383837 + MDK protein_coding This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]. 4192 GO:0062023, GO:0042995, GO:0005737, GO:0005576, collagen-containing extracellular matrix, cell projection, cytoplasm, extracellular region, GO:1904399, GO:0035374, GO:0008201, GO:0008083, GO:0008083, GO:0005515, heparan sulfate binding, chondroitin sulfate binding, heparin binding, growth factor activity, growth factor activity, protein binding, GO:2001224, GO:2000391, GO:2000347, GO:2000249, GO:2000179, GO:1905653, GO:1905564, GO:1905555, GO:1904996, GO:1904036, GO:1903039, GO:1900026, GO:0106091, GO:0106016, GO:0106015, GO:0090090, GO:0090023, GO:0071673, GO:0061036, GO:0051781, GO:0051384, GO:0050795, GO:0050729, GO:0048714, GO:0048477, GO:0046850, GO:0045893, GO:0045785, GO:0045590, GO:0045582, GO:0044849, GO:0043524, GO:0042493, GO:0042246, GO:0032735, GO:0032330, GO:0030421, GO:0030335, GO:0030325, GO:0030279, GO:0030154, GO:0021987, GO:0021681, GO:0021542, GO:0010996, GO:0010976, GO:0010976, GO:0010838, GO:0010759, GO:0010759, GO:0010718, GO:0010667, GO:0010667, GO:0009611, GO:0007614, GO:0007399, GO:0007219, GO:0007165, GO:0007162, GO:0007010, GO:0002690, GO:0002286, GO:0002232, GO:0002232, GO:0001662, positive regulation of neuron migration, positive regulation of neutrophil extravasation, positive regulation of hepatocyte proliferation, regulation of actin cytoskeleton reorganization, positive regulation of neural precursor cell proliferation, positive regulation of artery morphogenesis, positive regulation of vascular endothelial cell proliferation, positive regulation blood vessel branching, positive regulation of leukocyte adhesion to vascular endothelial cell, negative regulation of epithelial cell apoptotic process, positive regulation of leukocyte cell-cell adhesion, positive regulation of substrate adhesion-dependent cell spreading, glial cell projection elongation, positive regulation of inflammatory response to wounding, negative regulation of inflammatory response to wounding, negative regulation of canonical Wnt signaling pathway, positive regulation of neutrophil chemotaxis, positive regulation of smooth muscle cell chemotaxis, positive regulation of cartilage development, positive regulation of cell division, response to glucocorticoid, regulation of behavior, positive regulation of inflammatory response, positive regulation of oligodendrocyte differentiation, oogenesis, regulation of bone remodeling, positive regulation of transcription, DNA-templated, positive regulation of cell adhesion, negative regulation of regulatory T cell differentiation, positive regulation of T cell differentiation, estrous cycle, negative regulation of neuron apoptotic process, response to drug, tissue regeneration, positive regulation of interleukin-12 production, regulation of chondrocyte differentiation, defecation, positive regulation of cell migration, adrenal gland development, negative regulation of ossification, cell differentiation, cerebral cortex development, cerebellar granular layer development, dentate gyrus development, response to auditory stimulus, positive regulation of neuron projection development, positive regulation of neuron projection development, positive regulation of keratinocyte proliferation, positive regulation of macrophage chemotaxis, positive regulation of macrophage chemotaxis, positive regulation of epithelial to mesenchymal transition, negative regulation of cardiac muscle cell apoptotic process, negative regulation of cardiac muscle cell apoptotic process, response to wounding, short-term memory, nervous system development, Notch signaling pathway, signal transduction, negative regulation of cell adhesion, cytoskeleton organization, positive regulation of leukocyte chemotaxis, T cell activation involved in immune response, leukocyte chemotaxis involved in inflammatory response, leukocyte chemotaxis involved in inflammatory response, behavioral fear response, 10 18 18 15 3 16 11 12 16 ENSG00000110497 chr11 46396414 46594125 - AMBRA1 protein_coding 55626 GO:0048471, GO:0045335, GO:0043231, GO:0005930, GO:0005829, GO:0005829, GO:0005776, GO:0005741, GO:0005739, GO:0005739, GO:0005737, perinuclear region of cytoplasm, phagocytic vesicle, intracellular membrane-bounded organelle, axoneme, cytosol, cytosol, autophagosome, mitochondrial outer membrane, mitochondrion, mitochondrion, cytoplasm, GO:0051020, GO:0031625, GO:0005515, GTPase binding, ubiquitin protein ligase binding, protein binding, GO:0098780, GO:0098780, GO:0043552, GO:0043524, GO:0030154, GO:0021915, GO:0016236, GO:0010667, GO:0010508, GO:0009267, GO:0008285, GO:0006914, GO:0000423, GO:0000423, GO:0000422, GO:0000045, response to mitochondrial depolarisation, response to mitochondrial depolarisation, positive regulation of phosphatidylinositol 3-kinase activity, negative regulation of neuron apoptotic process, cell differentiation, neural tube development, macroautophagy, negative regulation of cardiac muscle cell apoptotic process, positive regulation of autophagy, cellular response to starvation, negative regulation of cell population proliferation, autophagy, mitophagy, mitophagy, autophagy of mitochondrion, autophagosome assembly, 210 267 272 173 168 163 137 139 161 ENSG00000110514 chr11 47269161 47330031 + MADD protein_coding Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 8567 GO:0045202, GO:0016021, GO:0005886, GO:0005829, GO:0005829, GO:0005737, synapse, integral component of membrane, plasma membrane, cytosol, cytosol, cytoplasm, GO:0030295, GO:0005515, GO:0005123, GO:0005085, GO:0005085, GO:0005085, GO:0005085, protein kinase activator activity, protein binding, death receptor binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2001236, GO:1902041, GO:0097194, GO:0051726, GO:0042981, GO:0042981, GO:0032483, GO:0032483, GO:0010803, GO:0007166, GO:0000187, GO:0000187, regulation of extrinsic apoptotic signaling pathway, regulation of extrinsic apoptotic signaling pathway via death domain receptors, execution phase of apoptosis, regulation of cell cycle, regulation of apoptotic process, regulation of apoptotic process, regulation of Rab protein signal transduction, regulation of Rab protein signal transduction, regulation of tumor necrosis factor-mediated signaling pathway, cell surface receptor signaling pathway, activation of MAPK activity, activation of MAPK activity, 258 354 496 302 268 375 241 222 273 ENSG00000110536 chr11 47565430 47573461 + PTPMT1 protein_coding 114971 GO:0005743, GO:0005739, GO:0005634, mitochondrial inner membrane, mitochondrion, nucleus, GO:0106307, GO:0106306, GO:0008962, GO:0008962, GO:0008138, GO:0005515, GO:0004725, GO:0004439, protein threonine phosphatase activity, protein serine phosphatase activity, phosphatidylglycerophosphatase activity, phosphatidylglycerophosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, GO:2001242, GO:0035335, GO:0032049, regulation of intrinsic apoptotic signaling pathway, peptidyl-tyrosine dephosphorylation, cardiolipin biosynthetic process, 47 26 74 34 48 32 28 38 46 ENSG00000110583 chr11 63938959 63957328 + NAA40 protein_coding 79829 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:1990189, GO:1990189, GO:0043998, GO:0043998, GO:0010485, GO:0010485, GO:0005515, peptide-serine-N-acetyltransferase activity, peptide-serine-N-acetyltransferase activity, H2A histone acetyltransferase activity, H2A histone acetyltransferase activity, H4 histone acetyltransferase activity, H4 histone acetyltransferase activity, protein binding, GO:0061187, GO:0043968, GO:0043967, GO:0006629, GO:0006474, GO:0006474, regulation of ribosomal DNA heterochromatin assembly, histone H2A acetylation, histone H4 acetylation, lipid metabolic process, N-terminal protein amino acid acetylation, N-terminal protein amino acid acetylation, 48 45 90 91 54 127 55 49 83 ENSG00000110619 chr11 3000922 3057613 - CARS protein_coding This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]. 833 GO:0005829, GO:0005829, GO:0005737, GO:0005737, cytosol, cytosol, cytoplasm, cytoplasm, GO:0046872, GO:0042802, GO:0005524, GO:0005524, GO:0005515, GO:0004817, GO:0004817, GO:0000049, GO:0000049, metal ion binding, identical protein binding, ATP binding, ATP binding, protein binding, cysteine-tRNA ligase activity, cysteine-tRNA ligase activity, tRNA binding, tRNA binding, GO:0006423, GO:0006423, GO:0006418, cysteinyl-tRNA aminoacylation, cysteinyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 6 166 185 74 82 101 83 70 62 ENSG00000110628 chr11 2899721 2925246 + SLC22A18 protein_coding This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]. 5002 GO:0016324, GO:0016021, GO:0016020, GO:0005886, GO:0005737, GO:0005635, apical plasma membrane, integral component of membrane, membrane, plasma membrane, cytoplasm, nuclear envelope, GO:0031625, GO:0022857, GO:0022857, GO:0015293, GO:0005515, ubiquitin protein ligase binding, transmembrane transporter activity, transmembrane transporter activity, symporter activity, protein binding, GO:1990961, GO:0042908, GO:0015695, GO:0007588, xenobiotic detoxification by transmembrane export across the plasma membrane, xenobiotic transport, organic cation transport, excretion, 61 77 27 23 89 16 36 55 21 ENSG00000110651 chr11 2376177 2397419 + CD81 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 975 GO:0097197, GO:0070062, GO:0070062, GO:0031982, GO:0016323, GO:0016021, GO:0016020, GO:0009925, GO:0005925, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0001772, tetraspanin-enriched microdomain, extracellular exosome, extracellular exosome, vesicle, basolateral plasma membrane, integral component of membrane, membrane, basal plasma membrane, focal adhesion, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, immunological synapse, GO:1990459, GO:0042289, GO:0023026, GO:0015485, GO:0005515, GO:0005178, GO:0001618, transferrin receptor binding, MHC class II protein binding, MHC class II protein complex binding, cholesterol binding, protein binding, integrin binding, virus receptor activity, GO:2001190, GO:2000563, GO:2000553, GO:1905676, GO:1905521, GO:1904352, GO:1903911, GO:0072675, GO:0072659, GO:0072659, GO:0071404, GO:0070863, GO:0061462, GO:0050862, GO:0050861, GO:0050861, GO:0050776, GO:0050731, GO:0046813, GO:0046718, GO:0045944, GO:0043128, GO:0035783, GO:0034238, GO:0031647, GO:0031623, GO:0030890, GO:0030449, GO:0014905, GO:0008284, GO:0008104, GO:0002863, GO:0002455, GO:0001771, GO:0000187, positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, positive regulation of CD4-positive, alpha-beta T cell proliferation, positive regulation of T-helper 2 cell cytokine production, positive regulation of adaptive immune memory response, regulation of macrophage migration, positive regulation of protein catabolic process in the vacuole, positive regulation of receptor clustering, osteoclast fusion, protein localization to plasma membrane, protein localization to plasma membrane, cellular response to low-density lipoprotein particle stimulus, positive regulation of protein exit from endoplasmic reticulum, protein localization to lysosome, positive regulation of T cell receptor signaling pathway, positive regulation of B cell receptor signaling pathway, positive regulation of B cell receptor signaling pathway, regulation of immune response, positive regulation of peptidyl-tyrosine phosphorylation, receptor-mediated virion attachment to host cell, viral entry into host cell, positive regulation of transcription by RNA polymerase II, positive regulation of 1-phosphatidylinositol 4-kinase activity, CD4-positive, alpha-beta T cell costimulation, macrophage fusion, regulation of protein stability, receptor internalization, positive regulation of B cell proliferation, regulation of complement activation, myoblast fusion involved in skeletal muscle regeneration, positive regulation of cell population proliferation, protein localization, positive regulation of inflammatory response to antigenic stimulus, humoral immune response mediated by circulating immunoglobulin, immunological synapse formation, activation of MAPK activity, 76 84 217 235 89 320 249 63 237 ENSG00000110660 chr11 107790991 107928293 - SLC35F2 protein_coding 54733 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0022857, GO:0003674, transmembrane transporter activity, molecular_function, GO:0055085, GO:0008150, transmembrane transport, biological_process, 2 5 11 25 5 22 15 10 19 ENSG00000110665 chr11 2295645 2303049 - C11orf21 protein_coding 29125 GO:0005737, cytoplasm, 482 664 834 639 861 909 598 621 705 ENSG00000110675 chr11 107591091 107666779 + ELMOD1 protein_coding 55531 GO:0005096, GO:0005096, GTPase activator activity, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 0 0 0 0 0 0 0 0 0 ENSG00000110680 chr11 14966668 14972354 - CALCA protein_coding This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014]. 796 GO:0043195, GO:0043025, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, terminal bouton, neuronal cell body, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0031716, GO:0031716, GO:0005515, GO:0005179, identical protein binding, calcitonin receptor binding, calcitonin receptor binding, protein binding, hormone activity, GO:1990090, GO:0071356, GO:0051482, GO:0051480, GO:0050965, GO:0048265, GO:0045986, GO:0045892, GO:0045779, GO:0044267, GO:0032147, GO:0030279, GO:0009408, GO:0008016, GO:0007631, GO:0007568, GO:0007566, GO:0007218, GO:0007204, GO:0007190, GO:0007189, GO:0007189, GO:0007186, GO:0006954, GO:0002548, GO:0001984, cellular response to nerve growth factor stimulus, cellular response to tumor necrosis factor, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, regulation of cytosolic calcium ion concentration, detection of temperature stimulus involved in sensory perception of pain, response to pain, negative regulation of smooth muscle contraction, negative regulation of transcription, DNA-templated, negative regulation of bone resorption, cellular protein metabolic process, activation of protein kinase activity, negative regulation of ossification, response to heat, regulation of heart contraction, feeding behavior, aging, embryo implantation, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, monocyte chemotaxis, artery vasodilation involved in baroreceptor response to increased systemic arterial blood pressure, 0 0 0 0 1 0 0 0 2 ENSG00000110693 chr11 15966449 16739591 - SOX6 protein_coding This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]. 55553 GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0001217, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000741, GO:2000726, GO:0071560, GO:0061036, GO:0055007, GO:0051216, GO:0048821, GO:0045165, GO:0032332, GO:0032332, GO:0021778, GO:0021529, GO:0016458, GO:0009791, GO:0007517, GO:0007417, GO:0006357, GO:0006355, GO:0002062, GO:0001701, GO:0001502, GO:0000902, GO:0000122, positive regulation of mesenchymal stem cell differentiation, negative regulation of cardiac muscle cell differentiation, cellular response to transforming growth factor beta stimulus, positive regulation of cartilage development, cardiac muscle cell differentiation, cartilage development, erythrocyte development, cell fate commitment, positive regulation of chondrocyte differentiation, positive regulation of chondrocyte differentiation, oligodendrocyte cell fate specification, spinal cord oligodendrocyte cell differentiation, gene silencing, post-embryonic development, muscle organ development, central nervous system development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chondrocyte differentiation, in utero embryonic development, cartilage condensation, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 25 16 28 10 9 26 3 17 18 ENSG00000110696 chr11 16613132 16756881 + C11orf58 protein_coding 10944 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 617 668 915 459 493 625 495 373 479 ENSG00000110697 chr11 67491768 67506263 - PITPNM1 protein_coding PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]. 9600 GO:0044297, GO:0036464, GO:0032580, GO:0032154, GO:0030496, GO:0016020, GO:0005829, GO:0005829, GO:0005811, GO:0005789, GO:0005737, cell body, cytoplasmic ribonucleoprotein granule, Golgi cisterna membrane, cleavage furrow, midbody, membrane, cytosol, cytosol, lipid droplet, endoplasmic reticulum membrane, cytoplasm, GO:0070300, GO:0035091, GO:0035091, GO:0031210, GO:0031210, GO:0030971, GO:0008526, GO:0008526, GO:0008525, GO:0005515, GO:0005509, phosphatidic acid binding, phosphatidylinositol binding, phosphatidylinositol binding, phosphatidylcholine binding, phosphatidylcholine binding, receptor tyrosine kinase binding, phosphatidylinositol transfer activity, phosphatidylinositol transfer activity, phosphatidylcholine transporter activity, protein binding, calcium ion binding, GO:0120009, GO:0015914, GO:0015031, GO:0007602, GO:0007420, GO:0006661, GO:0006629, intermembrane lipid transfer, phospholipid transport, protein transport, phototransduction, brain development, phosphatidylinositol biosynthetic process, lipid metabolic process, 1546 1557 1970 1390 1435 1425 1389 1168 1192 ENSG00000110700 chr11 17074389 17077787 - RPS13 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6207 GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0014069, GO:0014069, GO:0005925, GO:0005840, GO:0005829, GO:0005730, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, postsynaptic density, postsynaptic density, focal adhesion, ribosome, cytosol, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0070181, GO:0048027, GO:0005515, GO:0003735, GO:0003729, GO:0003723, small ribosomal subunit rRNA binding, mRNA 5'-UTR binding, protein binding, structural constituent of ribosome, mRNA binding, RNA binding, GO:0033119, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, negative regulation of RNA splicing, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 409 299 614 1069 664 1181 789 585 883 ENSG00000110711 chr11 67483041 67491103 + AIP protein_coding The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]. 9049 GO:0034751, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, aryl hydrocarbon receptor complex, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0051082, GO:0036004, GO:0017162, GO:0008134, GO:0005515, GO:0003755, GO:0003713, unfolded protein binding, GAF domain binding, aryl hydrocarbon receptor binding, transcription factor binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, transcription coactivator activity, GO:1903508, GO:0051344, GO:0035722, GO:0022417, GO:0010738, GO:0006805, GO:0006626, GO:0000413, positive regulation of nucleic acid-templated transcription, negative regulation of cyclic-nucleotide phosphodiesterase activity, interleukin-12-mediated signaling pathway, protein maturation by protein folding, regulation of protein kinase A signaling, xenobiotic metabolic process, protein targeting to mitochondrion, protein peptidyl-prolyl isomerization, 226 249 244 254 259 301 228 215 228 ENSG00000110713 chr11 3671083 3797792 - NUP98 protein_coding Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]. 4928 GO:1990904, GO:0044615, GO:0043657, GO:0043231, GO:0042405, GO:0034399, GO:0031965, GO:0031080, GO:0031080, GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0005643, GO:0005643, GO:0005635, GO:0005635, GO:0000776, ribonucleoprotein complex, nuclear pore nuclear basket, host cell, intracellular membrane-bounded organelle, nuclear inclusion body, nuclear periphery, nuclear membrane, nuclear pore outer ring, nuclear pore outer ring, nuclear body, cytosol, nucleoplasm, nucleoplasm, nuclear pore, nuclear pore, nuclear envelope, nuclear envelope, kinetochore, GO:1990841, GO:0017056, GO:0017056, GO:0008236, GO:0008139, GO:0005515, GO:0005215, GO:0003729, GO:0003713, promoter-specific chromatin binding, structural constituent of nuclear pore, structural constituent of nuclear pore, serine-type peptidase activity, nuclear localization sequence binding, protein binding, transporter activity, mRNA binding, transcription coactivator activity, GO:1903508, GO:1900034, GO:0075733, GO:0060964, GO:0051292, GO:0048026, GO:0019083, GO:0016925, GO:0016032, GO:0006999, GO:0006913, GO:0006606, GO:0006508, GO:0006409, GO:0006406, GO:0006110, positive regulation of nucleic acid-templated transcription, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, nuclear pore complex assembly, positive regulation of mRNA splicing, via spliceosome, viral transcription, protein sumoylation, viral process, nuclear pore organization, nucleocytoplasmic transport, protein import into nucleus, proteolysis, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 3348 3143 5532 1755 2297 2347 1851 1798 1958 ENSG00000110717 chr11 68030617 68036644 + NDUFS8 protein_coding This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]. 4728 GO:0005759, GO:0005747, GO:0005747, GO:0005747, GO:0005747, GO:0005739, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrion, GO:0051539, GO:0046872, GO:0008137, GO:0008137, GO:0005515, GO:0003954, GO:0003954, 4 iron, 4 sulfur cluster binding, metal ion binding, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, protein binding, NADH dehydrogenase activity, NADH dehydrogenase activity, GO:0032981, GO:0032981, GO:0032981, GO:0009060, GO:0006979, GO:0006120, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, aerobic respiration, response to oxidative stress, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 48 40 47 58 53 115 64 55 40 ENSG00000110719 chr11 68039016 68050895 + TCIRG1 protein_coding This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]. 10312 GO:0101003, GO:0030670, GO:0016471, GO:0016324, GO:0010008, GO:0005887, GO:0005886, GO:0005886, GO:0005770, GO:0005765, GO:0005634, GO:0000220, ficolin-1-rich granule membrane, phagocytic vesicle membrane, vacuolar proton-transporting V-type ATPase complex, apical plasma membrane, endosome membrane, integral component of plasma membrane, plasma membrane, plasma membrane, late endosome, lysosomal membrane, nucleus, vacuolar proton-transporting V-type ATPase, V0 domain, GO:0051117, GO:0046961, GO:0005515, GO:0005215, ATPase binding, proton-transporting ATPase activity, rotational mechanism, protein binding, transporter activity, GO:1902600, GO:0097188, GO:0090383, GO:0071345, GO:0070166, GO:0061484, GO:0060041, GO:0050796, GO:0045667, GO:0045453, GO:0044691, GO:0043312, GO:0043029, GO:0035711, GO:0035709, GO:0034220, GO:0033572, GO:0032609, GO:0030316, GO:0030217, GO:0030183, GO:0021554, GO:0016236, GO:0016064, GO:0010468, GO:0010272, GO:0010155, GO:0008286, GO:0008284, GO:0007039, GO:0007035, GO:0006968, GO:0006954, GO:0006915, GO:0006874, GO:0002377, GO:0002158, GO:0001503, proton transmembrane transport, dentin mineralization, phagosome acidification, cellular response to cytokine stimulus, enamel mineralization, hematopoietic stem cell homeostasis, retina development in camera-type eye, regulation of insulin secretion, regulation of osteoblast differentiation, bone resorption, tooth eruption, neutrophil degranulation, T cell homeostasis, T-helper 1 cell activation, memory T cell activation, ion transmembrane transport, transferrin transport, interferon-gamma production, osteoclast differentiation, T cell differentiation, B cell differentiation, optic nerve development, macroautophagy, immunoglobulin mediated immune response, regulation of gene expression, response to silver ion, regulation of proton transport, insulin receptor signaling pathway, positive regulation of cell population proliferation, protein catabolic process in the vacuole, vacuolar acidification, cellular defense response, inflammatory response, apoptotic process, cellular calcium ion homeostasis, immunoglobulin production, osteoclast proliferation, ossification, 5632 5866 6820 3950 5863 4940 4729 4784 4320 ENSG00000110721 chr11 68052859 68121444 - CHKA protein_coding The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1119 GO:0005829, cytosol, GO:0042802, GO:0033265, GO:0008144, GO:0005524, GO:0004305, GO:0004104, GO:0004103, identical protein binding, choline binding, drug binding, ATP binding, ethanolamine kinase activity, cholinesterase activity, choline kinase activity, GO:1904681, GO:0019695, GO:0016310, GO:0009636, GO:0006869, GO:0006657, GO:0006656, GO:0006656, GO:0006646, GO:0006646, GO:0006646, GO:0006629, GO:0006580, response to 3-methylcholanthrene, choline metabolic process, phosphorylation, response to toxic substance, lipid transport, CDP-choline pathway, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, lipid metabolic process, ethanolamine metabolic process, 215 257 498 298 427 470 380 296 408 ENSG00000110723 chr11 108505431 108593738 - EXPH5 protein_coding The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 23086 GO:0005768, GO:0005768, endosome, endosome, GO:0031267, GO:0031267, small GTPase binding, small GTPase binding, GO:0071985, GO:0071985, GO:0050714, GO:0050714, GO:0045921, GO:0045921, GO:0006886, GO:0003334, multivesicular body sorting pathway, multivesicular body sorting pathway, positive regulation of protein secretion, positive regulation of protein secretion, positive regulation of exocytosis, positive regulation of exocytosis, intracellular protein transport, keratinocyte development, 0 2 2 8 1 1 7 2 0 ENSG00000110756 chr11 18278668 18322198 - HPS5 protein_coding This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 11234 GO:0031084, BLOC-2 complex, GO:0005515, protein binding, GO:0043473, GO:0007596, GO:0006996, pigmentation, blood coagulation, organelle organization, 801 602 999 692 694 744 605 386 449 ENSG00000110768 chr11 18322295 18367044 + GTF2H1 protein_coding 2965 GO:0005675, GO:0005675, GO:0005654, GO:0005654, GO:0000439, GO:0000439, transcription factor TFIIH holo complex, transcription factor TFIIH holo complex, nucleoplasm, nucleoplasm, transcription factor TFIIH core complex, transcription factor TFIIH core complex, GO:0046966, GO:0005515, thyroid hormone receptor binding, protein binding, GO:0070911, GO:0070816, GO:0045893, GO:0033683, GO:0009755, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006360, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006283, GO:0006281, GO:0000717, GO:0000079, global genome nucleotide-excision repair, phosphorylation of RNA polymerase II C-terminal domain, positive regulation of transcription, DNA-templated, nucleotide-excision repair, DNA incision, hormone-mediated signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription by RNA polymerase I, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, transcription-coupled nucleotide-excision repair, DNA repair, nucleotide-excision repair, DNA duplex unwinding, regulation of cyclin-dependent protein serine/threonine kinase activity, 468 444 545 973 1323 933 900 530 463 ENSG00000110777 chr11 111352252 111455630 - POU2AF1 protein_coding 5450 GO:0090575, GO:0090575, GO:0090575, GO:0005634, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, nucleus, GO:0005515, GO:0003713, GO:0003713, GO:0003713, GO:0003712, protein binding, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, GO:0098586, GO:0045944, GO:0045944, GO:0032755, GO:0006959, GO:0002314, cellular response to virus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of interleukin-6 production, humoral immune response, germinal center B cell differentiation, 8 5 3 22 39 26 39 11 17 ENSG00000110786 chr11 18727928 18792721 - PTPN5 protein_coding 84867 GO:0016021, GO:0005789, GO:0005654, integral component of membrane, endoplasmic reticulum membrane, nucleoplasm, GO:0005515, GO:0004725, GO:0001784, protein binding, protein tyrosine phosphatase activity, phosphotyrosine residue binding, GO:0071345, GO:0035335, GO:0006470, cellular response to cytokine stimulus, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000110799 chr12 5948874 6124770 - VWF protein_coding This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]. 7450 GO:0070062, GO:0062023, GO:0062023, GO:0033093, GO:0031093, GO:0031091, GO:0031012, GO:0005783, GO:0005615, GO:0005576, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, Weibel-Palade body, platelet alpha granule lumen, platelet alpha granule, extracellular matrix, endoplasmic reticulum, extracellular space, extracellular region, extracellular region, extracellular region, extracellular region, GO:0051087, GO:0047485, GO:0042802, GO:0019865, GO:0005518, GO:0005515, GO:0005201, GO:0005178, GO:0002020, GO:0002020, chaperone binding, protein N-terminus binding, identical protein binding, immunoglobulin binding, collagen binding, protein binding, extracellular matrix structural constituent, integrin binding, protease binding, protease binding, GO:0031589, GO:0031589, GO:0030198, GO:0030168, GO:0030168, GO:0030168, GO:0009611, GO:0007599, GO:0007597, GO:0007596, GO:0007596, GO:0007596, GO:0007155, GO:0002576, cell-substrate adhesion, cell-substrate adhesion, extracellular matrix organization, platelet activation, platelet activation, platelet activation, response to wounding, hemostasis, blood coagulation, intrinsic pathway, blood coagulation, blood coagulation, blood coagulation, cell adhesion, platelet degranulation, 44 31 39 23 8 10 14 8 25 ENSG00000110801 chr12 121888731 121918297 + PSMD9 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 5715 GO:0008540, GO:0005838, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, proteasome regulatory particle, base subcomplex, proteasome regulatory particle, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0043425, GO:0005515, GO:0003713, bHLH transcription factor binding, protein binding, transcription coactivator activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070682, GO:0070682, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0046676, GO:0045893, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0032024, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0006511, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, proteasome regulatory particle assembly, proteasome regulatory particle assembly, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, negative regulation of insulin secretion, positive regulation of transcription, DNA-templated, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, positive regulation of insulin secretion, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, ubiquitin-dependent protein catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 29 22 34 23 22 28 14 26 20 ENSG00000110811 chr12 6828410 6839851 + P3H3 protein_coding The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]. 10536 GO:1902494, GO:0005783, catalytic complex, endoplasmic reticulum, GO:0031418, GO:0019797, GO:0005506, L-ascorbic acid binding, procollagen-proline 3-dioxygenase activity, iron ion binding, GO:0055114, GO:0032964, GO:0032963, GO:0019511, GO:0017185, GO:0008285, oxidation-reduction process, collagen biosynthetic process, collagen metabolic process, peptidyl-proline hydroxylation, peptidyl-lysine hydroxylation, negative regulation of cell population proliferation, 30 10 6 34 17 15 30 14 12 ENSG00000110841 chr12 27523431 27695564 + PPFIBP1 protein_coding The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 8496 GO:0048786, GO:0005925, GO:0005886, GO:0005829, presynaptic active zone, focal adhesion, plasma membrane, cytosol, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0050808, GO:0007528, GO:0007155, synapse organization, neuromuscular junction development, cell adhesion, 5 8 4 7 10 7 15 2 5 ENSG00000110844 chr12 49568218 49644666 + PRPF40B protein_coding This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]. 25766 GO:0071004, GO:0016607, GO:0005685, U2-type prespliceosome, nuclear speck, U1 snRNP, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0045292, GO:0000398, mRNA cis splicing, via spliceosome, mRNA splicing, via spliceosome, 17 12 28 43 18 37 38 14 45 ENSG00000110848 chr12 9752486 9760901 - CD69 protein_coding This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]. 969 GO:0032991, GO:0009897, GO:0005887, protein-containing complex, external side of plasma membrane, integral component of plasma membrane, GO:0042802, GO:0030246, GO:0005515, GO:0005509, GO:0004888, identical protein binding, carbohydrate binding, protein binding, calcium ion binding, transmembrane signaling receptor activity, GO:0035690, cellular response to drug, 83 96 282 4391 1099 5708 5374 1778 4752 ENSG00000110851 chr12 107732866 107761272 - PRDM4 protein_coding The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]. 11108 GO:0035097, GO:0005737, GO:0005634, histone methyltransferase complex, cytoplasm, nucleus, GO:1990837, GO:1990226, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, histone methyltransferase binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0043985, GO:0010468, GO:0006366, positive regulation of transcription by RNA polymerase II, histone H4-R3 methylation, regulation of gene expression, transcription by RNA polymerase II, 187 174 164 163 164 118 143 202 181 ENSG00000110852 chr12 9852984 9870136 - CLEC2B protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. 9976 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0030246, GO:0005515, identical protein binding, carbohydrate binding, protein binding, GO:0050776, regulation of immune response, 1944 1921 2859 1151 1512 1549 1326 1428 1275 ENSG00000110871 chr12 120503274 120534434 - COQ5 protein_coding 84274 GO:0032991, GO:0031314, GO:0005759, GO:0005743, protein-containing complex, extrinsic component of mitochondrial inner membrane, mitochondrial matrix, mitochondrial inner membrane, GO:0043430, GO:0043333, GO:0008168, GO:0005515, 2-decaprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity, 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity, methyltransferase activity, protein binding, GO:0032259, GO:0006744, GO:0006744, GO:0006744, methylation, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, 161 109 128 61 79 90 74 54 62 ENSG00000110876 chr12 108622277 108633959 - SELPLG protein_coding This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]. 6404 GO:0044853, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0001931, plasma membrane raft, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, uropod, GO:0005515, GO:0005102, GO:0001618, protein binding, signaling receptor binding, virus receptor activity, GO:0071354, GO:0050902, GO:0050901, GO:0050901, GO:0050900, GO:0050900, GO:0046718, GO:0030097, GO:0007155, cellular response to interleukin-6, leukocyte adhesive activation, leukocyte tethering or rolling, leukocyte tethering or rolling, leukocyte migration, leukocyte migration, viral entry into host cell, hemopoiesis, cell adhesion, 4939 5896 5911 964 2906 1847 1698 3086 1905 ENSG00000110880 chr12 108645109 108731596 - CORO1C protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]. 23603 GO:0045202, GO:0042383, GO:0032587, GO:0031982, GO:0030027, GO:0030017, GO:0016600, GO:0016328, GO:0015629, GO:0010008, GO:0005938, GO:0005925, GO:0005925, synapse, sarcolemma, ruffle membrane, vesicle, lamellipodium, sarcomere, flotillin complex, lateral plasma membrane, actin cytoskeleton, endosome membrane, cell cortex, focal adhesion, focal adhesion, GO:0051015, GO:0051015, GO:0031267, GO:0005515, actin filament binding, actin filament binding, small GTPase binding, protein binding, GO:2000394, GO:1900027, GO:1900025, GO:1900024, GO:0140285, GO:0097750, GO:0090630, GO:0090148, GO:0051895, GO:0051893, GO:0045184, GO:0044387, GO:0016477, GO:0016197, GO:0010762, GO:0010633, GO:0010632, GO:0007165, GO:0007015, GO:0006909, GO:0001933, GO:0001932, GO:0001755, GO:0001755, positive regulation of lamellipodium morphogenesis, regulation of ruffle assembly, negative regulation of substrate adhesion-dependent cell spreading, regulation of substrate adhesion-dependent cell spreading, endosome fission, endosome membrane tubulation, activation of GTPase activity, membrane fission, negative regulation of focal adhesion assembly, regulation of focal adhesion assembly, establishment of protein localization, negative regulation of protein kinase activity by regulation of protein phosphorylation, cell migration, endosomal transport, regulation of fibroblast migration, negative regulation of epithelial cell migration, regulation of epithelial cell migration, signal transduction, actin filament organization, phagocytosis, negative regulation of protein phosphorylation, regulation of protein phosphorylation, neural crest cell migration, neural crest cell migration, 1682 1709 2116 579 1117 814 651 1002 708 ENSG00000110881 chr12 50057548 50083611 + ASIC1 protein_coding This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]. 41 GO:0045202, GO:0009986, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, synapse, cell surface, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0044736, GO:0044736, GO:0044736, GO:0022839, GO:0015280, GO:0005515, acid-sensing ion channel activity, acid-sensing ion channel activity, acid-sensing ion channel activity, ion gated channel activity, ligand-gated sodium channel activity, protein binding, GO:0071467, GO:0070588, GO:0070207, GO:0050915, GO:0046929, GO:0042391, GO:0035725, GO:0035725, GO:0035725, GO:0034220, GO:0010447, GO:0009268, GO:0008306, GO:0007613, GO:0007165, GO:0006814, GO:0001975, GO:0001662, cellular response to pH, calcium ion transmembrane transport, protein homotrimerization, sensory perception of sour taste, negative regulation of neurotransmitter secretion, regulation of membrane potential, sodium ion transmembrane transport, sodium ion transmembrane transport, sodium ion transmembrane transport, ion transmembrane transport, response to acidic pH, response to pH, associative learning, memory, signal transduction, sodium ion transport, response to amphetamine, behavioral fear response, 0 1 1 4 1 2 0 1 0 ENSG00000110887 chr12 108858932 108901043 + DAO protein_coding This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]. 1610 GO:0005829, GO:0005829, GO:0005782, GO:0005778, GO:0005777, GO:0005741, GO:0005737, cytosol, cytosol, peroxisomal matrix, peroxisomal membrane, peroxisome, mitochondrial outer membrane, cytoplasm, GO:0071949, GO:0042802, GO:0005515, GO:0003884, GO:0003884, FAD binding, identical protein binding, protein binding, D-amino-acid oxidase activity, D-amino-acid oxidase activity, GO:0070178, GO:0055130, GO:0055130, GO:0055114, GO:0042416, GO:0036088, GO:0036088, GO:0034641, GO:0019478, GO:0006625, GO:0006562, GO:0006562, D-serine metabolic process, D-alanine catabolic process, D-alanine catabolic process, oxidation-reduction process, dopamine biosynthetic process, D-serine catabolic process, D-serine catabolic process, cellular nitrogen compound metabolic process, D-amino acid catabolic process, protein targeting to peroxisome, proline catabolic process, proline catabolic process, 0 0 1 0 0 1 0 0 0 ENSG00000110888 chr12 30709552 30754951 - CAPRIN2 protein_coding The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 65981 GO:0043235, GO:0005886, GO:0005829, GO:0005813, GO:0005739, GO:0005737, GO:0005654, receptor complex, plasma membrane, cytosol, centrosome, mitochondrion, cytoplasm, nucleoplasm, GO:0046872, GO:0005515, GO:0005102, GO:0003723, metal ion binding, protein binding, signaling receptor binding, RNA binding, GO:0090263, GO:0061003, GO:0050775, GO:0045944, GO:0033138, GO:0032092, GO:0030308, GO:0017148, positive regulation of canonical Wnt signaling pathway, positive regulation of dendritic spine morphogenesis, positive regulation of dendrite morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of peptidyl-serine phosphorylation, positive regulation of protein binding, negative regulation of cell growth, negative regulation of translation, 112 101 120 198 153 233 241 115 167 ENSG00000110900 chr12 30926428 30996599 + TSPAN11 protein_coding 441631 GO:0005887, integral component of plasma membrane, GO:0016477, cell migration, 0 0 0 0 0 0 0 0 0 ENSG00000110906 chr12 109448656 109477544 - KCTD10 protein_coding The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. 83892 GO:0031463, GO:0031463, GO:0005829, GO:0005654, Cul3-RING ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, cytosol, nucleoplasm, GO:0042802, GO:0031267, GO:0005515, GO:0005112, GO:0004842, GO:0004842, identical protein binding, small GTPase binding, protein binding, Notch binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0051260, GO:0043161, GO:0043161, GO:0035024, GO:0016567, GO:0016567, GO:0016567, GO:0006511, protein homooligomerization, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of Rho protein signal transduction, protein ubiquitination, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, 166 145 193 117 157 189 129 127 83 ENSG00000110911 chr12 50979401 51028566 - SLC11A2 protein_coding This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]. 4891 GO:1903561, GO:1903561, GO:0070826, GO:0055037, GO:0055037, GO:0048471, GO:0045178, GO:0045177, GO:0045177, GO:0031902, GO:0031902, GO:0031526, GO:0031410, GO:0016324, GO:0016020, GO:0009986, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005773, GO:0005769, GO:0005769, GO:0005765, GO:0005765, GO:0005765, GO:0005741, GO:0005739, GO:0005737, GO:0005634, extracellular vesicle, extracellular vesicle, paraferritin complex, recycling endosome, recycling endosome, perinuclear region of cytoplasm, basal part of cell, apical part of cell, apical part of cell, late endosome membrane, late endosome membrane, brush border membrane, cytoplasmic vesicle, apical plasma membrane, membrane, cell surface, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, vacuole, early endosome, early endosome, lysosomal membrane, lysosomal membrane, lysosomal membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleus, GO:0046915, GO:0046870, GO:0046870, GO:0015295, GO:0015099, GO:0015094, GO:0015094, GO:0015093, GO:0015093, GO:0015093, GO:0015093, GO:0015087, GO:0015086, GO:0015086, GO:0005515, GO:0005384, GO:0005384, GO:0005381, GO:0005381, GO:0005375, transition metal ion transmembrane transporter activity, cadmium ion binding, cadmium ion binding, solute:proton symporter activity, nickel cation transmembrane transporter activity, lead ion transmembrane transporter activity, lead ion transmembrane transporter activity, ferrous iron transmembrane transporter activity, ferrous iron transmembrane transporter activity, ferrous iron transmembrane transporter activity, ferrous iron transmembrane transporter activity, cobalt ion transmembrane transporter activity, cadmium ion transmembrane transporter activity, cadmium ion transmembrane transporter activity, protein binding, manganese ion transmembrane transporter activity, manganese ion transmembrane transporter activity, iron ion transmembrane transporter activity, iron ion transmembrane transporter activity, copper ion transmembrane transporter activity, GO:1902600, GO:0071421, GO:0070574, GO:0060586, GO:0060586, GO:0048821, GO:0048813, GO:0035444, GO:0035434, GO:0034755, GO:0033212, GO:0033212, GO:0015692, GO:0010039, GO:0007611, GO:0006879, GO:0006828, GO:0006826, GO:0006825, GO:0006824, GO:0006783, GO:0001666, proton transmembrane transport, manganese ion transmembrane transport, cadmium ion transmembrane transport, multicellular organismal iron ion homeostasis, multicellular organismal iron ion homeostasis, erythrocyte development, dendrite morphogenesis, nickel cation transmembrane transport, copper ion transmembrane transport, iron ion transmembrane transport, iron import into cell, iron import into cell, lead ion transport, response to iron ion, learning or memory, cellular iron ion homeostasis, manganese ion transport, iron ion transport, copper ion transport, cobalt ion transport, heme biosynthetic process, response to hypoxia, 27 31 68 74 26 89 75 22 60 ENSG00000110917 chr12 120686869 120701864 + MLEC protein_coding This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 9761 GO:0035579, GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005783, specific granule membrane, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0030246, GO:0019899, GO:0005515, carbohydrate binding, enzyme binding, protein binding, GO:0043312, GO:0006457, GO:0005975, neutrophil degranulation, protein folding, carbohydrate metabolic process, 140 127 161 216 128 211 177 113 169 ENSG00000110921 chr12 109573255 109598117 + MVK protein_coding This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 4598 GO:0043231, GO:0005829, GO:0005829, GO:0005829, GO:0005777, GO:0005777, intracellular membrane-bounded organelle, cytosol, cytosol, cytosol, peroxisome, peroxisome, GO:0042802, GO:0042802, GO:0005524, GO:0005515, GO:0004496, GO:0004496, GO:0004496, GO:0000287, identical protein binding, identical protein binding, ATP binding, protein binding, mevalonate kinase activity, mevalonate kinase activity, mevalonate kinase activity, magnesium ion binding, GO:0050728, GO:0045540, GO:0019287, GO:0019287, GO:0016310, GO:0008299, GO:0006695, GO:0006695, GO:0006695, negative regulation of inflammatory response, regulation of cholesterol biosynthetic process, isopentenyl diphosphate biosynthetic process, mevalonate pathway, isopentenyl diphosphate biosynthetic process, mevalonate pathway, phosphorylation, isoprenoid biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, 21 18 59 33 26 70 33 23 35 ENSG00000110925 chr12 51061205 51083664 - CSRNP2 protein_coding The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]. 81566 GO:0005634, GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, nucleus, chromatin, GO:0043565, GO:0043565, GO:0019902, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, sequence-specific DNA binding, sequence-specific DNA binding, phosphatase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0045944, GO:0010923, GO:0006915, GO:0006357, positive regulation of transcription by RNA polymerase II, negative regulation of phosphatase activity, apoptotic process, regulation of transcription by RNA polymerase II, 82 79 161 175 156 145 181 120 123 ENSG00000110931 chr12 121237691 121298308 - CAMKK2 protein_coding The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]. 10645 GO:0043005, GO:0005829, GO:0005829, GO:0005829, GO:0005654, neuron projection, cytosol, cytosol, cytosol, nucleoplasm, GO:0005524, GO:0005516, GO:0005509, GO:0004713, GO:0004683, ATP binding, calmodulin binding, calcium ion binding, protein tyrosine kinase activity, calmodulin-dependent protein kinase activity, GO:1903599, GO:0061762, GO:0046777, GO:0045893, GO:0045859, GO:0034614, GO:0019722, GO:0018108, GO:0006468, GO:0001934, GO:0000165, positive regulation of autophagy of mitochondrion, CAMKK-AMPK signaling cascade, protein autophosphorylation, positive regulation of transcription, DNA-templated, regulation of protein kinase activity, cellular response to reactive oxygen species, calcium-mediated signaling, peptidyl-tyrosine phosphorylation, protein phosphorylation, positive regulation of protein phosphorylation, MAPK cascade, 1714 2021 2310 1255 2084 1589 1550 1589 1422 ENSG00000110934 chr12 51281038 51324668 - BIN2 protein_coding 51411 GO:1904813, GO:0042995, GO:0034774, GO:0030054, GO:0005938, GO:0005886, GO:0005576, GO:0002102, GO:0002102, GO:0001891, GO:0001891, ficolin-1-rich granule lumen, cell projection, secretory granule lumen, cell junction, cell cortex, plasma membrane, extracellular region, podosome, podosome, phagocytic cup, phagocytic cup, GO:0005543, GO:0005543, GO:0005515, phospholipid binding, phospholipid binding, protein binding, GO:0097320, GO:0097320, GO:0071800, GO:0071800, GO:0060326, GO:0043312, GO:0006911, GO:0006911, plasma membrane tubulation, plasma membrane tubulation, podosome assembly, podosome assembly, cell chemotaxis, neutrophil degranulation, phagocytosis, engulfment, phagocytosis, engulfment, 5240 5425 6135 3687 5076 4821 3967 4444 3968 ENSG00000110944 chr12 56334174 56340410 + IL23A protein_coding This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]. 51561 GO:0070743, GO:0070743, GO:0005788, GO:0005576, interleukin-23 complex, interleukin-23 complex, endoplasmic reticulum lumen, extracellular region, GO:0045519, GO:0005515, GO:0005125, interleukin-23 receptor binding, protein binding, cytokine activity, GO:2000330, GO:2000330, GO:2000318, GO:1901224, GO:0090023, GO:0051607, GO:0051142, GO:0051135, GO:0051135, GO:0050829, GO:0050729, GO:0048771, GO:0045944, GO:0045672, GO:0045087, GO:0043382, GO:0042531, GO:0042509, GO:0042104, GO:0042102, GO:0042102, GO:0042098, GO:0038155, GO:0034105, GO:0032819, GO:0032816, GO:0032760, GO:0032740, GO:0032735, GO:0032733, GO:0032733, GO:0032729, GO:0032729, GO:0032725, GO:0032693, GO:0019221, GO:0010536, GO:0010536, GO:0006954, GO:0002827, GO:0002827, GO:0002827, GO:0002827, GO:0002230, GO:0002230, GO:0001916, positive regulation of T-helper 17 cell lineage commitment, positive regulation of T-helper 17 cell lineage commitment, positive regulation of T-helper 17 type immune response, positive regulation of NIK/NF-kappaB signaling, positive regulation of neutrophil chemotaxis, defense response to virus, positive regulation of NK T cell proliferation, positive regulation of NK T cell activation, positive regulation of NK T cell activation, defense response to Gram-negative bacterium, positive regulation of inflammatory response, tissue remodeling, positive regulation of transcription by RNA polymerase II, positive regulation of osteoclast differentiation, innate immune response, positive regulation of memory T cell differentiation, positive regulation of tyrosine phosphorylation of STAT protein, regulation of tyrosine phosphorylation of STAT protein, positive regulation of activated T cell proliferation, positive regulation of T cell proliferation, positive regulation of T cell proliferation, T cell proliferation, interleukin-23-mediated signaling pathway, positive regulation of tissue remodeling, positive regulation of natural killer cell proliferation, positive regulation of natural killer cell activation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-17 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interleukin-10 production, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, positive regulation of granulocyte macrophage colony-stimulating factor production, negative regulation of interleukin-10 production, cytokine-mediated signaling pathway, positive regulation of activation of Janus kinase activity, positive regulation of activation of Janus kinase activity, inflammatory response, positive regulation of T-helper 1 type immune response, positive regulation of T-helper 1 type immune response, positive regulation of T-helper 1 type immune response, positive regulation of T-helper 1 type immune response, positive regulation of defense response to virus by host, positive regulation of defense response to virus by host, positive regulation of T cell mediated cytotoxicity, 5 6 11 121 24 126 93 12 70 ENSG00000110955 chr12 56638175 56646068 - ATP5F1B protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]. 506 GO:0070062, GO:0045261, GO:0045259, GO:0042645, GO:0031966, GO:0016020, GO:0016020, GO:0009986, GO:0005886, GO:0005759, GO:0005759, GO:0005754, GO:0005753, GO:0005753, GO:0005739, GO:0005739, GO:0005634, extracellular exosome, proton-transporting ATP synthase complex, catalytic core F(1), proton-transporting ATP synthase complex, mitochondrial nucleoid, mitochondrial membrane, membrane, membrane, cell surface, plasma membrane, mitochondrial matrix, mitochondrial matrix, mitochondrial proton-transporting ATP synthase, catalytic core, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrion, mitochondrion, nucleus, GO:0046961, GO:0046933, GO:0046933, GO:0046933, GO:0043532, GO:0042288, GO:0016887, GO:0005524, GO:0005515, proton-transporting ATPase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, angiostatin binding, MHC class I protein binding, ATPase activity, ATP binding, protein binding, GO:1902600, GO:0098761, GO:0051453, GO:0043536, GO:0042776, GO:0042776, GO:0042776, GO:0042407, GO:0007005, GO:0006933, GO:0006754, GO:0006754, GO:0006629, GO:0006091, GO:0001649, GO:0001525, proton transmembrane transport, cellular response to interleukin-7, regulation of intracellular pH, positive regulation of blood vessel endothelial cell migration, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, mitochondrion organization, negative regulation of cell adhesion involved in substrate-bound cell migration, ATP biosynthetic process, ATP biosynthetic process, lipid metabolic process, generation of precursor metabolites and energy, osteoblast differentiation, angiogenesis, 819 840 1010 591 628 735 629 634 614 ENSG00000110958 chr12 56663341 56688408 - PTGES3 protein_coding This gene encodes an enzyme that converts prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). This protein functions as a co-chaperone with heat shock protein 90 (HSP90), localizing to response elements in DNA and disrupting transcriptional activation complexes. Alternative splicing results in multiple transcript variants. There are multiple pseudogenes of this gene on several different chromosomes. [provided by RefSeq, Feb 2016]. 10728 GO:0101031, GO:0032991, GO:0005829, GO:0005829, GO:0005697, GO:0005654, GO:0005634, GO:0005634, GO:0000781, chaperone complex, protein-containing complex, cytosol, cytosol, telomerase holoenzyme complex, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0070182, GO:0051879, GO:0051879, GO:0051087, GO:0051082, GO:0050220, GO:0050220, GO:0005515, GO:0003720, DNA polymerase binding, Hsp90 protein binding, Hsp90 protein binding, chaperone binding, unfolded protein binding, prostaglandin-E synthase activity, prostaglandin-E synthase activity, protein binding, telomerase activity, GO:1905323, GO:1905323, GO:1900034, GO:0051973, GO:0051973, GO:0051131, GO:0051131, GO:0051085, GO:0050821, GO:0042327, GO:0019371, GO:0007165, GO:0007004, GO:0007004, GO:0007004, GO:0006805, GO:0006457, GO:0001516, GO:0001516, GO:0000723, telomerase holoenzyme complex assembly, telomerase holoenzyme complex assembly, regulation of cellular response to heat, positive regulation of telomerase activity, positive regulation of telomerase activity, chaperone-mediated protein complex assembly, chaperone-mediated protein complex assembly, chaperone cofactor-dependent protein refolding, protein stabilization, positive regulation of phosphorylation, cyclooxygenase pathway, signal transduction, telomere maintenance via telomerase, telomere maintenance via telomerase, telomere maintenance via telomerase, xenobiotic metabolic process, protein folding, prostaglandin biosynthetic process, prostaglandin biosynthetic process, telomere maintenance, 650 577 1200 751 588 629 519 467 507 ENSG00000110975 chr12 33374238 33439819 - SYT10 protein_coding 341359 GO:0098793, GO:0070382, GO:0070382, GO:0030658, GO:0016021, GO:0005886, presynapse, exocytic vesicle, exocytic vesicle, transport vesicle membrane, integral component of membrane, plasma membrane, GO:0046982, GO:0042803, GO:0030276, GO:0019905, GO:0005546, GO:0005544, GO:0005509, GO:0005509, GO:0001786, GO:0000149, protein heterodimerization activity, protein homodimerization activity, clathrin binding, syntaxin binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, calcium ion binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:0071277, GO:0045956, GO:0017158, GO:0017156, GO:0016192, GO:0016079, GO:0014059, GO:0007608, GO:0007268, cellular response to calcium ion, positive regulation of calcium ion-dependent exocytosis, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, synaptic vesicle exocytosis, regulation of dopamine secretion, sensory perception of smell, chemical synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000110987 chr12 122019422 122062044 + BCL7A protein_coding This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 605 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0045892, negative regulation of transcription, DNA-templated, 2 5 7 12 12 21 10 4 12 ENSG00000111011 chr12 122503458 122527000 - RSRC2 protein_coding 65117 GO:0005515, GO:0003723, protein binding, RNA binding, 1993 2119 2537 2155 2251 2515 2087 1455 1650 ENSG00000111012 chr12 57762334 57768986 - CYP27B1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]. 1594 GO:0005741, GO:0005739, GO:0005739, GO:0005739, GO:0005737, mitochondrial outer membrane, mitochondrion, mitochondrion, mitochondrion, cytoplasm, GO:0062185, GO:0020037, GO:0005506, GO:0004498, GO:0004498, GO:0004498, secalciferol 1-monooxygenase activity, heme binding, iron ion binding, calcidiol 1-monooxygenase activity, calcidiol 1-monooxygenase activity, calcidiol 1-monooxygenase activity, GO:0070564, GO:0070314, GO:0055114, GO:0055074, GO:0046697, GO:0045618, GO:0043627, GO:0042369, GO:0042359, GO:0042359, GO:0036378, GO:0036378, GO:0034341, GO:0033280, GO:0033280, GO:0032496, GO:0030500, GO:0030308, GO:0030282, GO:0010980, GO:0010956, GO:0008285, GO:0006816, GO:0006766, positive regulation of vitamin D receptor signaling pathway, G1 to G0 transition, oxidation-reduction process, calcium ion homeostasis, decidualization, positive regulation of keratinocyte differentiation, response to estrogen, vitamin D catabolic process, vitamin D metabolic process, vitamin D metabolic process, calcitriol biosynthetic process from calciol, calcitriol biosynthetic process from calciol, response to interferon-gamma, response to vitamin D, response to vitamin D, response to lipopolysaccharide, regulation of bone mineralization, negative regulation of cell growth, bone mineralization, positive regulation of vitamin D 24-hydroxylase activity, negative regulation of calcidiol 1-monooxygenase activity, negative regulation of cell population proliferation, calcium ion transport, vitamin metabolic process, 1 0 2 0 0 0 0 0 0 ENSG00000111046 chr12 80707498 80709474 + MYF6 protein_coding The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]. 4618 GO:0090575, GO:0005654, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0070888, GO:0046983, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, protein dimerization activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060415, GO:0051149, GO:0048743, GO:0045944, GO:0045892, GO:0045663, GO:0043403, GO:0042693, GO:0035914, GO:0007519, GO:0006357, GO:0006357, GO:0001756, muscle tissue morphogenesis, positive regulation of muscle cell differentiation, positive regulation of skeletal muscle fiber development, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of myoblast differentiation, skeletal muscle tissue regeneration, muscle cell fate commitment, skeletal muscle cell differentiation, skeletal muscle tissue development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, somitogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000111049 chr12 80716912 80719673 + MYF5 protein_coding 4617 GO:0090575, GO:0005654, GO:0005654, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:0070888, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000978, E-box binding, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060415, GO:0051149, GO:0048743, GO:0048704, GO:0045663, GO:0043010, GO:0042693, GO:0035914, GO:0030198, GO:0007519, GO:0007517, GO:0006357, GO:0006357, GO:0001952, GO:0001756, GO:0001503, GO:0001502, muscle tissue morphogenesis, positive regulation of muscle cell differentiation, positive regulation of skeletal muscle fiber development, embryonic skeletal system morphogenesis, positive regulation of myoblast differentiation, camera-type eye development, muscle cell fate commitment, skeletal muscle cell differentiation, extracellular matrix organization, skeletal muscle tissue development, muscle organ development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of cell-matrix adhesion, somitogenesis, ossification, cartilage condensation, 0 0 0 0 0 0 0 0 0 ENSG00000111052 chr12 80792520 80937925 - LIN7A protein_coding The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016]. 8825 GO:0098839, GO:0098793, GO:0097025, GO:0070062, GO:0045202, GO:0016323, GO:0005923, GO:0005911, GO:0005886, postsynaptic density membrane, presynapse, MPP7-DLG1-LIN7 complex, extracellular exosome, synapse, basolateral plasma membrane, bicellular tight junction, cell-cell junction, plasma membrane, GO:0097016, GO:0097016, GO:0005515, L27 domain binding, L27 domain binding, protein binding, GO:1903361, GO:0065003, GO:0048839, GO:0048489, GO:0045199, GO:0015031, GO:0007269, GO:0007269, GO:0006887, protein localization to basolateral plasma membrane, protein-containing complex assembly, inner ear development, synaptic vesicle transport, maintenance of epithelial cell apical/basal polarity, protein transport, neurotransmitter secretion, neurotransmitter secretion, exocytosis, 1316 840 1384 597 839 1144 782 694 1098 ENSG00000111057 chr12 52948871 52952901 + KRT18 protein_coding KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 3875 GO:0071944, GO:0070062, GO:0048471, GO:0045095, GO:0034451, GO:0005912, GO:0005882, GO:0005829, GO:0005829, GO:0005815, GO:0005737, GO:0005730, cell periphery, extracellular exosome, perinuclear region of cytoplasm, keratin filament, centriolar satellite, adherens junction, intermediate filament, cytosol, cytosol, microtubule organizing center, cytoplasm, nucleolus, GO:0098641, GO:0097110, GO:0005515, GO:0005198, GO:0003723, cadherin binding involved in cell-cell adhesion, scaffold protein binding, protein binding, structural molecule activity, RNA binding, GO:0098609, GO:0097284, GO:0097191, GO:0070268, GO:0045104, GO:0043066, GO:0043000, GO:0033209, GO:0031424, GO:0016032, GO:0009653, GO:0007049, cell-cell adhesion, hepatocyte apoptotic process, extrinsic apoptotic signaling pathway, cornification, intermediate filament cytoskeleton organization, negative regulation of apoptotic process, Golgi to plasma membrane CFTR protein transport, tumor necrosis factor-mediated signaling pathway, keratinization, viral process, anatomical structure morphogenesis, cell cycle, 6 9 12 6 10 14 20 0 12 ENSG00000111058 chr12 80936414 81261205 + ACSS3 protein_coding 79611 GO:0005759, GO:0005759, mitochondrial matrix, mitochondrial matrix, GO:0050218, GO:0047760, GO:0005524, GO:0005515, GO:0003987, GO:0003987, propionate-CoA ligase activity, butyrate-CoA ligase activity, ATP binding, protein binding, acetate-CoA ligase activity, acetate-CoA ligase activity, GO:0046951, ketone body biosynthetic process, 143 82 145 76 50 125 101 51 129 ENSG00000111077 chr12 53046969 53064372 + TNS2 protein_coding The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 23371 GO:0005925, GO:0005925, GO:0005886, focal adhesion, focal adhesion, plasma membrane, GO:0046872, GO:0042802, GO:0019900, GO:0005515, GO:0004725, metal ion binding, identical protein binding, kinase binding, protein binding, protein tyrosine phosphatase activity, GO:0048871, GO:0046627, GO:0035556, GO:0035335, GO:0035264, GO:0032963, GO:0019725, GO:0014850, GO:0008285, GO:0001822, multicellular organismal homeostasis, negative regulation of insulin receptor signaling pathway, intracellular signal transduction, peptidyl-tyrosine dephosphorylation, multicellular organism growth, collagen metabolic process, cellular homeostasis, response to muscle activity, negative regulation of cell population proliferation, kidney development, 9 8 8 7 16 6 9 3 21 ENSG00000111087 chr12 57460135 57472262 + GLI1 protein_coding This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 2735 GO:0097546, GO:0097542, GO:0005930, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, ciliary base, ciliary tip, axoneme, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0008017, GO:0005515, GO:0003682, GO:0003677, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, metal ion binding, microtubule binding, protein binding, chromatin binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000345, GO:1902808, GO:0097421, GO:0090090, GO:0060070, GO:0060045, GO:0060032, GO:0048546, GO:0045944, GO:0045893, GO:0045880, GO:0045740, GO:0045667, GO:0030850, GO:0030324, GO:0021983, GO:0021938, GO:0021696, GO:0009954, GO:0009953, GO:0009913, GO:0009611, GO:0008589, GO:0008284, GO:0007418, GO:0007283, GO:0007224, GO:0007224, GO:0007224, GO:0006357, GO:0001649, regulation of hepatocyte proliferation, positive regulation of cell cycle G1/S phase transition, liver regeneration, negative regulation of canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of cardiac muscle cell proliferation, notochord regression, digestive tract morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of smoothened signaling pathway, positive regulation of DNA replication, regulation of osteoblast differentiation, prostate gland development, lung development, pituitary gland development, smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation, cerebellar cortex morphogenesis, proximal/distal pattern formation, dorsal/ventral pattern formation, epidermal cell differentiation, response to wounding, regulation of smoothened signaling pathway, positive regulation of cell population proliferation, ventral midline development, spermatogenesis, smoothened signaling pathway, smoothened signaling pathway, smoothened signaling pathway, regulation of transcription by RNA polymerase II, osteoblast differentiation, 217 214 202 87 265 186 188 141 162 ENSG00000111110 chr12 62643982 62935037 - PPM1H protein_coding 57460 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0042802, GO:0005515, GO:0004724, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, identical protein binding, protein binding, magnesium-dependent protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, GO:0006470, GO:0006470, protein dephosphorylation, protein dephosphorylation, 57 53 72 29 30 38 27 36 30 ENSG00000111142 chr12 95473520 95515839 + METAP2 protein_coding The protein encoded by this gene is a member of the methionyl aminopeptidase family. The encoded protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent proteins. Increased expression of this gene is associated with various forms of cancer, and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. Inhibitors of this gene have also been shown to be effective for the treatment of obesity. A pseudogene of this gene is located on chromosome 2. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 10988 GO:0005886, GO:0005829, GO:0005829, GO:0005737, plasma membrane, cytosol, cytosol, cytoplasm, GO:0070006, GO:0046872, GO:0008235, GO:0005515, GO:0004177, GO:0003723, metalloaminopeptidase activity, metal ion binding, metalloexopeptidase activity, protein binding, aminopeptidase activity, RNA binding, GO:0070084, GO:0031365, GO:0022400, GO:0018206, GO:0016485, protein initiator methionine removal, N-terminal protein amino acid modification, regulation of rhodopsin mediated signaling pathway, peptidyl-methionine modification, protein processing, 29 26 56 124 62 97 78 41 69 ENSG00000111144 chr12 96000828 96043520 - LTA4H protein_coding The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. 4048 GO:1904813, GO:1904724, GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, cytosol, cytosol, cytosol, nucleoplasm, nucleus, extracellular region, GO:0070006, GO:0045148, GO:0008270, GO:0008270, GO:0008233, GO:0005515, GO:0004463, GO:0004463, GO:0004301, GO:0004301, GO:0004301, GO:0004301, GO:0004177, GO:0004177, GO:0003723, metalloaminopeptidase activity, tripeptide aminopeptidase activity, zinc ion binding, zinc ion binding, peptidase activity, protein binding, leukotriene-A4 hydrolase activity, leukotriene-A4 hydrolase activity, epoxide hydrolase activity, epoxide hydrolase activity, epoxide hydrolase activity, epoxide hydrolase activity, aminopeptidase activity, aminopeptidase activity, RNA binding, GO:0044267, GO:0043312, GO:0043171, GO:0043171, GO:0042759, GO:0019370, GO:0019370, GO:0019370, GO:0006691, GO:0006508, cellular protein metabolic process, neutrophil degranulation, peptide catabolic process, peptide catabolic process, long-chain fatty acid biosynthetic process, leukotriene biosynthetic process, leukotriene biosynthetic process, leukotriene biosynthetic process, leukotriene metabolic process, proteolysis, 1610 2438 2047 1189 2521 1717 1268 1792 1317 ENSG00000111145 chr12 96194382 96269835 + ELK3 protein_coding This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 2004 GO:0005739, GO:0005654, GO:0005634, GO:0005634, GO:0000785, mitochondrion, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0032422, GO:0005515, GO:0003700, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, purine-rich negative regulatory element binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045892, GO:0042060, GO:0030154, GO:0007165, GO:0006357, GO:0001525, GO:0000122, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, wound healing, cell differentiation, signal transduction, regulation of transcription by RNA polymerase II, angiogenesis, negative regulation of transcription by RNA polymerase II, 98 129 178 132 122 193 185 113 195 ENSG00000111181 chr12 190077 214570 - SLC6A12 protein_coding 6539 GO:0043005, GO:0016021, GO:0005887, GO:0005886, GO:0005886, neuron projection, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042165, GO:0015171, GO:0008028, GO:0005515, GO:0005332, neurotransmitter binding, amino acid transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, gamma-aminobutyric acid:sodium symporter activity, GO:0035725, GO:0015812, GO:0015718, GO:0006865, GO:0006836, GO:0003333, sodium ion transmembrane transport, gamma-aminobutyric acid transport, monocarboxylic acid transport, amino acid transport, neurotransmitter transport, amino acid transmembrane transport, 18 26 30 12 14 24 11 18 25 ENSG00000111186 chr12 1529891 1647243 + WNT5B protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]. 81029 GO:0070062, GO:0070062, GO:0062023, GO:0030666, GO:0009986, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, extracellular exosome, collagen-containing extracellular matrix, endocytic vesicle membrane, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, GO:0005125, GO:0005109, GO:0005102, cytokine activity, frizzled binding, signaling receptor binding, GO:2000052, GO:1904105, GO:0090090, GO:0071300, GO:0070307, GO:0060070, GO:0045600, GO:0045444, GO:0045165, GO:0042692, GO:0042060, GO:0030335, GO:0030182, GO:0030182, GO:0016055, GO:0002062, positive regulation of non-canonical Wnt signaling pathway, positive regulation of convergent extension involved in gastrulation, negative regulation of canonical Wnt signaling pathway, cellular response to retinoic acid, lens fiber cell development, canonical Wnt signaling pathway, positive regulation of fat cell differentiation, fat cell differentiation, cell fate commitment, muscle cell differentiation, wound healing, positive regulation of cell migration, neuron differentiation, neuron differentiation, Wnt signaling pathway, chondrocyte differentiation, 0 0 0 3 6 0 0 0 0 ENSG00000111196 chr12 10604190 10613623 - MAGOHB protein_coding 55110 GO:0071013, GO:0071006, GO:0071005, GO:0043025, GO:0035145, GO:0035145, GO:0005654, GO:0005634, catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, U2-type precatalytic spliceosome, neuronal cell body, exon-exon junction complex, exon-exon junction complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0031124, GO:0008380, GO:0006406, GO:0006405, GO:0000398, GO:0000398, GO:0000184, GO:0000184, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 11 4 20 24 9 42 21 3 20 ENSG00000111199 chr12 109783085 109833401 - TRPV4 protein_coding This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]. 59341 GO:0032587, GO:0030864, GO:0030426, GO:0030175, GO:0030027, GO:0016324, GO:0016021, GO:0005929, GO:0005925, GO:0005912, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005881, GO:0005783, ruffle membrane, cortical actin cytoskeleton, growth cone, filopodium, lamellipodium, apical plasma membrane, integral component of membrane, cilium, focal adhesion, adherens junction, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasmic microtubule, endoplasmic reticulum, GO:0051015, GO:0048487, GO:0046872, GO:0043014, GO:0042802, GO:0042169, GO:0019901, GO:0015275, GO:0008289, GO:0008017, GO:0005524, GO:0005516, GO:0005515, GO:0005262, GO:0005262, GO:0005261, GO:0005216, GO:0005080, GO:0003779, actin filament binding, beta-tubulin binding, metal ion binding, alpha-tubulin binding, identical protein binding, SH2 domain binding, protein kinase binding, stretch-activated, cation-selective, calcium channel activity, lipid binding, microtubule binding, ATP binding, calmodulin binding, protein binding, calcium channel activity, calcium channel activity, cation channel activity, ion channel activity, protein kinase C binding, actin binding, GO:1902656, GO:0098703, GO:0097497, GO:0071476, GO:0071476, GO:0071470, GO:0070588, GO:0070588, GO:0070509, GO:0060351, GO:0050891, GO:0046785, GO:0043622, GO:0043117, GO:0034605, GO:0031532, GO:0031117, GO:0010977, GO:0009612, GO:0007231, GO:0007231, GO:0007231, GO:0007204, GO:0007043, GO:0007015, GO:0007015, GO:0006884, GO:0006874, GO:0006816, GO:0006816, calcium ion import into cytosol, calcium ion import across plasma membrane, blood vessel endothelial cell delamination, cellular hypotonic response, cellular hypotonic response, cellular response to osmotic stress, calcium ion transmembrane transport, calcium ion transmembrane transport, calcium ion import, cartilage development involved in endochondral bone morphogenesis, multicellular organismal water homeostasis, microtubule polymerization, cortical microtubule organization, positive regulation of vascular permeability, cellular response to heat, actin cytoskeleton reorganization, positive regulation of microtubule depolymerization, negative regulation of neuron projection development, response to mechanical stimulus, osmosensory signaling pathway, osmosensory signaling pathway, osmosensory signaling pathway, positive regulation of cytosolic calcium ion concentration, cell-cell junction assembly, actin filament organization, actin filament organization, cell volume homeostasis, cellular calcium ion homeostasis, calcium ion transport, calcium ion transport, 1 0 1 2 0 4 1 0 4 ENSG00000111203 chr12 2812622 2859791 + ITFG2 protein_coding 55846 GO:0140007, GO:0140007, GO:0005829, GO:0005765, GO:0005654, KICSTOR complex, KICSTOR complex, cytosol, lysosomal membrane, nucleoplasm, GO:1904262, GO:0042149, GO:0034198, GO:0032006, GO:0002314, negative regulation of TORC1 signaling, cellular response to glucose starvation, cellular response to amino acid starvation, regulation of TOR signaling, germinal center B cell differentiation, 51 47 96 72 72 177 109 83 136 ENSG00000111206 chr12 2857681 2877155 - FOXM1 protein_coding The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. 2305 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0019901, GO:0005515, GO:0003700, GO:0000981, GO:0000977, GO:0000977, protein kinase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000781, GO:2000377, GO:0090344, GO:0071156, GO:0071156, GO:0051726, GO:0046578, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0042127, GO:0032873, GO:0008284, GO:0006978, GO:0006357, GO:0006281, GO:0000122, GO:0000086, positive regulation of double-strand break repair, regulation of reactive oxygen species metabolic process, negative regulation of cell aging, regulation of cell cycle arrest, regulation of cell cycle arrest, regulation of cell cycle, regulation of Ras protein signal transduction, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of cell population proliferation, negative regulation of stress-activated MAPK cascade, positive regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, regulation of transcription by RNA polymerase II, DNA repair, negative regulation of transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, 10 8 18 21 7 25 18 7 23 ENSG00000111215 chr12 10845849 10849475 - PRR4 protein_coding This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]. 11272 GO:0005615, extracellular space, GO:0005515, protein binding, GO:0007601, GO:0001895, visual perception, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000111218 chr12 3381349 3593973 + PRMT8 protein_coding Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]. 56341 GO:0098753, GO:0005886, GO:0005886, GO:0005634, anchored component of the cytoplasmic side of the plasma membrane, plasma membrane, plasma membrane, nucleus, GO:1904047, GO:0042803, GO:0042802, GO:0042802, GO:0035242, GO:0035241, GO:0019899, GO:0008757, GO:0008469, GO:0005515, S-adenosyl-L-methionine binding, protein homodimerization activity, identical protein binding, identical protein binding, protein-arginine omega-N asymmetric methyltransferase activity, protein-arginine omega-N monomethyltransferase activity, enzyme binding, S-adenosylmethionine-dependent methyltransferase activity, histone-arginine N-methyltransferase activity, protein binding, GO:0051260, GO:0043393, GO:0034969, GO:0019919, GO:0018216, GO:0016571, GO:0006479, GO:0006479, protein homooligomerization, regulation of protein binding, histone arginine methylation, peptidyl-arginine methylation, to asymmetrical-dimethyl arginine, peptidyl-arginine methylation, histone methylation, protein methylation, protein methylation, 0 0 0 0 0 0 0 0 0 ENSG00000111224 chr12 3791047 3873448 - PARP11 protein_coding 57097 GO:0016604, GO:0005829, GO:0005654, GO:0005643, GO:0005635, nuclear body, cytosol, nucleoplasm, nuclear pore, nuclear envelope, GO:1990404, GO:0003950, protein ADP-ribosylase activity, NAD+ ADP-ribosyltransferase activity, GO:0140289, GO:0070213, GO:0051028, GO:0030154, GO:0015031, GO:0007283, GO:0006998, protein mono-ADP-ribosylation, protein auto-ADP-ribosylation, mRNA transport, cell differentiation, protein transport, spermatogenesis, nuclear envelope organization, 83 94 127 86 71 96 64 68 46 ENSG00000111229 chr12 110434825 110450422 - ARPC3 protein_coding This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. 10094 GO:0070062, GO:0061850, GO:0035861, GO:0031941, GO:0030027, GO:0016020, GO:0015629, GO:0005925, GO:0005885, GO:0005885, GO:0005829, GO:0005634, extracellular exosome, growth cone leading edge, site of double-strand break, filamentous actin, lamellipodium, membrane, actin cytoskeleton, focal adhesion, Arp2/3 protein complex, Arp2/3 protein complex, cytosol, nucleus, GO:0051015, GO:0051015, GO:0005515, GO:0005200, actin filament binding, actin filament binding, protein binding, structural constituent of cytoskeleton, GO:1990090, GO:0070358, GO:0061024, GO:0048013, GO:0038096, GO:0034314, GO:0034314, cellular response to nerve growth factor stimulus, actin polymerization-dependent cell motility, membrane organization, ephrin receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, Arp2/3 complex-mediated actin nucleation, Arp2/3 complex-mediated actin nucleation, 4855 4160 5700 1480 3338 2245 1812 3120 2140 ENSG00000111231 chr12 110452484 110469268 - GPN3 protein_coding 51184 GO:0032991, protein-containing complex, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, 87 60 83 45 48 73 24 57 65 ENSG00000111237 chr12 110491097 110502117 - VPS29 protein_coding This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms and representing non-protein coding transcripts have been found for this gene. [provided by RefSeq, Aug 2013]. 51699 GO:0043231, GO:0030906, GO:0030906, GO:0030904, GO:0030904, GO:0010008, GO:0005829, GO:0005829, GO:0005770, GO:0005769, GO:0005768, GO:0005768, intracellular membrane-bounded organelle, retromer, cargo-selective complex, retromer, cargo-selective complex, retromer complex, retromer complex, endosome membrane, cytosol, cytosol, late endosome, early endosome, endosome, endosome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:1990126, GO:0042147, GO:0042147, GO:0032456, GO:0016055, GO:0016032, GO:0010506, GO:0006886, retrograde transport, endosome to plasma membrane, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, endocytic recycling, Wnt signaling pathway, viral process, regulation of autophagy, intracellular protein transport, 405 382 452 450 454 494 487 469 440 ENSG00000111241 chr12 4428155 4445614 - FGF6 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]. 2251 GO:0042383, GO:0005737, GO:0005615, GO:0005576, sarcolemma, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005104, growth factor activity, protein binding, fibroblast growth factor receptor binding, GO:0051897, GO:0051781, GO:0045445, GO:0030334, GO:0030154, GO:0010628, GO:0009887, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0001934, GO:0001525, GO:0001502, GO:0000165, positive regulation of protein kinase B signaling, positive regulation of cell division, myoblast differentiation, regulation of cell migration, cell differentiation, positive regulation of gene expression, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of protein phosphorylation, angiogenesis, cartilage condensation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000111245 chr12 110910819 110920722 - MYL2 protein_coding Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]. 4633 GO:0097512, GO:0031672, GO:0030017, GO:0030016, GO:0016459, GO:0015629, GO:0005856, GO:0005829, cardiac myofibril, A band, sarcomere, myofibril, myosin complex, actin cytoskeleton, cytoskeleton, cytosol, GO:0032036, GO:0008307, GO:0005515, GO:0005509, GO:0003785, myosin heavy chain binding, structural constituent of muscle, protein binding, calcium ion binding, actin monomer binding, GO:0098735, GO:0060048, GO:0060047, GO:0055010, GO:0055003, GO:0048747, GO:0042694, GO:0030308, GO:0030049, GO:0009791, GO:0007507, GO:0006942, GO:0002026, positive regulation of the force of heart contraction, cardiac muscle contraction, heart contraction, ventricular cardiac muscle tissue morphogenesis, cardiac myofibril assembly, muscle fiber development, muscle cell fate specification, negative regulation of cell growth, muscle filament sliding, post-embryonic development, heart development, regulation of striated muscle contraction, regulation of the force of heart contraction, 0 0 0 0 0 0 0 0 0 ENSG00000111247 chr12 4538798 4560048 + RAD51AP1 protein_coding 10635 GO:0032991, GO:0005694, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, chromosome, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0062037, GO:0005515, GO:0003723, GO:0003697, GO:0003697, GO:0003690, GO:0003690, GO:0003677, GO:0000217, D-loop DNA binding, protein binding, RNA binding, single-stranded DNA binding, single-stranded DNA binding, double-stranded DNA binding, double-stranded DNA binding, DNA binding, DNA secondary structure binding, GO:1905168, GO:0071479, GO:0036297, GO:0036297, GO:0010845, GO:0010569, GO:0006974, GO:0006281, GO:0000724, GO:0000724, GO:0000724, positive regulation of double-strand break repair via homologous recombination, cellular response to ionizing radiation, interstrand cross-link repair, interstrand cross-link repair, positive regulation of reciprocal meiotic recombination, regulation of double-strand break repair via homologous recombination, cellular response to DNA damage stimulus, DNA repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 1 3 2 3 0 4 0 1 3 ENSG00000111249 chr12 111034024 111350554 + CUX2 protein_coding This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013]. 23316 GO:0070062, GO:0005634, GO:0005634, GO:0000785, extracellular exosome, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000463, GO:0071310, GO:0061003, GO:0051965, GO:0050890, GO:0050775, GO:0010628, GO:0007614, GO:0006357, GO:0000122, positive regulation of excitatory postsynaptic potential, cellular response to organic substance, positive regulation of dendritic spine morphogenesis, positive regulation of synapse assembly, cognition, positive regulation of dendrite morphogenesis, positive regulation of gene expression, short-term memory, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 0 4 0 0 0 0 0 2 ENSG00000111252 chr12 111405948 111451623 + SH2B3 protein_coding This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. 10019 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:1990782, GO:0030159, GO:0005515, GO:0005173, GO:0005068, protein tyrosine kinase binding, signaling receptor complex adaptor activity, protein binding, stem cell factor receptor binding, transmembrane receptor protein tyrosine kinase adaptor activity, GO:1990869, GO:1900235, GO:0090331, GO:0070100, GO:0060761, GO:0051898, GO:0048821, GO:0046426, GO:0043407, GO:0042532, GO:0038163, GO:0038163, GO:0038163, GO:0036016, GO:0035855, GO:0035702, GO:0035556, GO:0035162, GO:0008285, GO:0007596, GO:0007169, GO:0001780, cellular response to chemokine, negative regulation of Kit signaling pathway, negative regulation of platelet aggregation, negative regulation of chemokine-mediated signaling pathway, negative regulation of response to cytokine stimulus, negative regulation of protein kinase B signaling, erythrocyte development, negative regulation of receptor signaling pathway via JAK-STAT, negative regulation of MAP kinase activity, negative regulation of tyrosine phosphorylation of STAT protein, thrombopoietin-mediated signaling pathway, thrombopoietin-mediated signaling pathway, thrombopoietin-mediated signaling pathway, cellular response to interleukin-3, megakaryocyte development, monocyte homeostasis, intracellular signal transduction, embryonic hemopoiesis, negative regulation of cell population proliferation, blood coagulation, transmembrane receptor protein tyrosine kinase signaling pathway, neutrophil homeostasis, 1553 1142 2413 881 1173 1203 1117 861 961 ENSG00000111254 chr12 4615508 4649047 - AKAP3 protein_coding This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]. 10566 GO:0097228, GO:0097228, GO:0097225, GO:0035686, GO:0005737, GO:0005634, GO:0001669, sperm principal piece, sperm principal piece, sperm midpiece, sperm fibrous sheath, cytoplasm, nucleus, acrosomal vesicle, GO:0051018, GO:0005515, protein kinase A binding, protein binding, GO:0008104, GO:0007340, GO:0007338, GO:0007178, GO:0001835, protein localization, acrosome reaction, single fertilization, transmembrane receptor protein serine/threonine kinase signaling pathway, blastocyst hatching, 0 0 0 4 0 0 0 1 0 ENSG00000111261 chr12 12326056 12350541 - MANSC1 protein_coding 54682 GO:0016021, integral component of membrane, GO:0005515, protein binding, 591 788 544 132 449 274 234 451 321 ENSG00000111262 chr12 4909905 4918256 + KCNA1 protein_coding This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]. 3736 GO:0045202, GO:0045202, GO:0044224, GO:0044224, GO:0044224, GO:0043679, GO:0043204, GO:0043025, GO:0043025, GO:0042734, GO:0033270, GO:0033270, GO:0031410, GO:0030425, GO:0030425, GO:0030054, GO:0016324, GO:0016021, GO:0009986, GO:0008076, GO:0008076, GO:0008076, GO:0005887, GO:0005887, GO:0005886, GO:0005829, GO:0005783, synapse, synapse, juxtaparanode region of axon, juxtaparanode region of axon, juxtaparanode region of axon, axon terminus, perikaryon, neuronal cell body, neuronal cell body, presynaptic membrane, paranode region of axon, paranode region of axon, cytoplasmic vesicle, dendrite, dendrite, cell junction, apical plasma membrane, integral component of membrane, cell surface, voltage-gated potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, GO:1905030, GO:0099508, GO:0097718, GO:0015079, GO:0005515, GO:0005267, GO:0005251, GO:0005251, GO:0005249, GO:0005249, GO:0005249, voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential, voltage-gated ion channel activity involved in regulation of presynaptic membrane potential, disordered domain specific binding, potassium ion transmembrane transporter activity, protein binding, potassium channel activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:1903818, GO:0099505, GO:0071805, GO:0071805, GO:0071286, GO:0060078, GO:0051260, GO:0050976, GO:0050966, GO:0050905, GO:0050905, GO:0042391, GO:0034613, GO:0023041, GO:0021766, GO:0019228, GO:0010960, GO:0010644, GO:0007405, GO:0007268, GO:0006937, GO:0006813, GO:0001964, positive regulation of voltage-gated potassium channel activity, regulation of presynaptic membrane potential, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to magnesium ion, regulation of postsynaptic membrane potential, protein homooligomerization, detection of mechanical stimulus involved in sensory perception of touch, detection of mechanical stimulus involved in sensory perception of pain, neuromuscular process, neuromuscular process, regulation of membrane potential, cellular protein localization, neuronal signal transduction, hippocampus development, neuronal action potential, magnesium ion homeostasis, cell communication by electrical coupling, neuroblast proliferation, chemical synaptic transmission, regulation of muscle contraction, potassium ion transport, startle response, 0 0 0 0 0 0 0 0 0 ENSG00000111266 chr12 12474210 12562383 - DUSP16 protein_coding This gene encodes a mitogen-activated protein kinase phosphatase that is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010]. 80824 GO:0031410, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, cytoplasmic vesicle, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0051019, GO:0017017, GO:0016791, GO:0008330, GO:0005515, GO:0004725, GO:0004721, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, MAP kinase tyrosine/serine/threonine phosphatase activity, phosphatase activity, protein tyrosine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, phosphoprotein phosphatase activity, GO:0045209, GO:0045204, GO:0035970, GO:0035335, GO:0016311, GO:0016311, GO:0006470, GO:0000188, GO:0000188, MAPK phosphatase export from nucleus, leptomycin B sensitive, MAPK export from nucleus, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, dephosphorylation, dephosphorylation, protein dephosphorylation, inactivation of MAPK activity, inactivation of MAPK activity, 809 964 829 318 358 230 321 346 257 ENSG00000111269 chr12 12611827 12645108 + CREBL2 protein_coding cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq, Jul 2008]. 1389 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0005515, GO:0003700, GO:0003677, GO:0000981, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0050821, GO:0046889, GO:0046326, GO:0045893, GO:0045600, GO:0033138, GO:0030154, GO:0007165, GO:0007049, GO:0006357, GO:0006355, GO:0006351, protein stabilization, positive regulation of lipid biosynthetic process, positive regulation of glucose import, positive regulation of transcription, DNA-templated, positive regulation of fat cell differentiation, positive regulation of peptidyl-serine phosphorylation, cell differentiation, signal transduction, cell cycle, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, transcription, DNA-templated, 140 157 174 131 103 151 125 101 153 ENSG00000111271 chr12 111686056 111757107 + ACAD10 protein_coding This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]. 80724 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0050660, GO:0016787, GO:0003995, flavin adenine dinucleotide binding, hydrolase activity, acyl-CoA dehydrogenase activity, GO:0006635, fatty acid beta-oxidation, 154 166 169 151 185 177 159 159 134 ENSG00000111275 chr12 111766887 111817529 + ALDH2 protein_coding This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]. 217 GO:0070062, GO:0005759, extracellular exosome, mitochondrial matrix, GO:0051287, GO:0043878, GO:0009055, GO:0004030, GO:0004029, GO:0004029, NAD binding, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity, electron transfer activity, aldehyde dehydrogenase [NAD(P)+] activity, aldehyde dehydrogenase (NAD+) activity, aldehyde dehydrogenase (NAD+) activity, GO:0022900, GO:0006069, GO:0006068, GO:0006066, GO:0005975, electron transport chain, ethanol oxidation, ethanol catabolic process, alcohol metabolic process, carbohydrate metabolic process, 132 98 135 72 104 128 62 81 61 ENSG00000111276 chr12 12715058 12722371 + CDKN1B protein_coding This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]. 1027 GO:0043231, GO:0031464, GO:0005829, GO:0005768, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, Cul4A-RING E3 ubiquitin ligase complex, cytosol, endosome, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0051087, GO:0044877, GO:0030544, GO:0030332, GO:0030332, GO:0019903, GO:0019901, GO:0005515, GO:0004861, GO:0004861, GO:0004860, chaperone binding, protein-containing complex binding, Hsp70 protein binding, cyclin binding, cyclin binding, protein phosphatase binding, protein kinase binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, cyclin-dependent protein serine/threonine kinase inhibitor activity, protein kinase inhibitor activity, GO:1905179, GO:1904706, GO:1904030, GO:1902806, GO:1902746, GO:0071850, GO:0071850, GO:0071407, GO:0071285, GO:0071236, GO:0060770, GO:0051271, GO:0048839, GO:0048102, GO:0046686, GO:0045930, GO:0045930, GO:0045892, GO:0045787, GO:0045786, GO:0045737, GO:0045736, GO:0045736, GO:0045732, GO:0043434, GO:0043200, GO:0043066, GO:0042493, GO:0042326, GO:0033673, GO:0032355, GO:0031116, GO:0030308, GO:0010942, GO:0009749, GO:0008285, GO:0008285, GO:0008285, GO:0008284, GO:0007605, GO:0007507, GO:0007219, GO:0007096, GO:0007050, GO:0007050, GO:0006977, GO:0006813, GO:0001890, GO:0001666, GO:0000082, GO:0000082, GO:0000082, GO:0000079, negative regulation of cardiac muscle tissue regeneration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of cyclin-dependent protein kinase activity, regulation of cell cycle G1/S phase transition, regulation of lens fiber cell differentiation, mitotic cell cycle arrest, mitotic cell cycle arrest, cellular response to organic cyclic compound, cellular response to lithium ion, cellular response to antibiotic, negative regulation of epithelial cell proliferation involved in prostate gland development, negative regulation of cellular component movement, inner ear development, autophagic cell death, response to cadmium ion, negative regulation of mitotic cell cycle, negative regulation of mitotic cell cycle, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, negative regulation of cell cycle, positive regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of protein catabolic process, response to peptide hormone, response to amino acid, negative regulation of apoptotic process, response to drug, negative regulation of phosphorylation, negative regulation of kinase activity, response to estradiol, positive regulation of microtubule polymerization, negative regulation of cell growth, positive regulation of cell death, response to glucose, negative regulation of cell population proliferation, negative regulation of cell population proliferation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, sensory perception of sound, heart development, Notch signaling pathway, regulation of exit from mitosis, cell cycle arrest, cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, potassium ion transport, placenta development, response to hypoxia, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 1579 1520 1985 377 723 564 435 568 486 ENSG00000111291 chr12 12940775 12952147 - GPRC5D protein_coding The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]. 55507 GO:0070062, GO:0043235, GO:0043231, GO:0016021, GO:0005886, GO:0005886, extracellular exosome, receptor complex, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, plasma membrane, GO:0030295, GO:0005515, GO:0004930, protein kinase activator activity, protein binding, G protein-coupled receptor activity, GO:0032147, GO:0007186, activation of protein kinase activity, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000111300 chr12 112026689 112109022 - NAA25 protein_coding This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]. 80018 GO:0031416, GO:0005829, GO:0005794, GO:0005737, NatB complex, cytosol, Golgi apparatus, cytoplasm, GO:0004596, peptide alpha-N-acetyltransferase activity, GO:0017196, N-terminal peptidyl-methionine acetylation, 48 28 47 65 19 81 74 25 46 ENSG00000111305 chr12 13083560 13103683 - GSG1 protein_coding 83445 GO:0016021, GO:0005886, GO:0005789, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, GO:0070063, GO:0005515, RNA polymerase binding, protein binding, 0 0 0 0 1 0 3 2 0 ENSG00000111319 chr12 6346843 6377730 - SCNN1A protein_coding Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]. 6337 GO:0097228, GO:0070062, GO:0060170, GO:0034706, GO:0034706, GO:0031514, GO:0016324, GO:0005887, GO:0005887, GO:0005886, GO:0005737, GO:0001669, sperm principal piece, extracellular exosome, ciliary membrane, sodium channel complex, sodium channel complex, motile cilium, apical plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, acrosomal vesicle, GO:0050699, GO:0015280, GO:0005515, WW domain binding, ligand-gated sodium channel activity, protein binding, GO:0055078, GO:0050909, GO:0050896, GO:0050891, GO:0035725, GO:0035725, GO:0034220, sodium ion homeostasis, sensory perception of taste, response to stimulus, multicellular organismal water homeostasis, sodium ion transmembrane transport, sodium ion transmembrane transport, ion transmembrane transport, 12 20 16 13 17 18 31 8 26 ENSG00000111321 chr12 6375045 6391571 + LTBR protein_coding This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]. 4055 GO:0016021, GO:0005886, GO:0005794, integral component of membrane, plasma membrane, Golgi apparatus, GO:0042802, GO:0031625, GO:0031625, GO:0005515, identical protein binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, GO:2001238, GO:0071260, GO:0046330, GO:0043123, GO:0043123, GO:0043011, GO:0033209, GO:0016032, GO:0007165, GO:0006955, GO:0006915, positive regulation of extrinsic apoptotic signaling pathway, cellular response to mechanical stimulus, positive regulation of JNK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, myeloid dendritic cell differentiation, tumor necrosis factor-mediated signaling pathway, viral process, signal transduction, immune response, apoptotic process, 719 722 762 405 711 382 595 673 490 ENSG00000111325 chr12 122974580 122980043 + OGFOD2 protein_coding 79676 GO:0051213, GO:0031418, GO:0016705, GO:0005506, dioxygenase activity, L-ascorbic acid binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, iron ion binding, GO:0055114, oxidation-reduction process, 3 15 7 7 15 7 3 8 8 ENSG00000111328 chr12 123260971 123272334 - CDK2AP1 protein_coding The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]. 8099 GO:0048471, GO:0005829, GO:0005654, GO:0005634, perinuclear region of cytoplasm, cytosol, nucleoplasm, nucleus, GO:0070182, GO:0005515, DNA polymerase binding, protein binding, GO:0007049, GO:0006261, GO:0001934, cell cycle, DNA-dependent DNA replication, positive regulation of protein phosphorylation, 106 68 51 30 32 30 28 42 20 ENSG00000111331 chr12 112938352 112973249 + OAS3 protein_coding This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]. 4940 GO:0043231, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005615, intracellular membrane-bounded organelle, membrane, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, extracellular space, GO:0046872, GO:0005524, GO:0005515, GO:0003725, GO:0003725, GO:0001730, GO:0001730, metal ion binding, ATP binding, protein binding, double-stranded RNA binding, double-stranded RNA binding, 2'-5'-oligoadenylate synthetase activity, 2'-5'-oligoadenylate synthetase activity, GO:0060700, GO:0060700, GO:0060337, GO:0060333, GO:0051607, GO:0051607, GO:0051607, GO:0045071, GO:0045071, GO:0009615, GO:0006139, regulation of ribonuclease activity, regulation of ribonuclease activity, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, defense response to virus, defense response to virus, negative regulation of viral genome replication, negative regulation of viral genome replication, response to virus, nucleobase-containing compound metabolic process, 347 336 721 185 172 337 214 143 297 ENSG00000111335 chr12 112978395 113011723 + OAS2 protein_coding This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 4939 GO:0048471, GO:0043231, GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005654, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, membrane, membrane, cytosol, cytosol, nucleoplasm, GO:0046872, GO:0005524, GO:0005515, GO:0003725, GO:0003725, GO:0003725, GO:0001730, GO:0001730, GO:0001730, metal ion binding, ATP binding, protein binding, double-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, 2'-5'-oligoadenylate synthetase activity, 2'-5'-oligoadenylate synthetase activity, 2'-5'-oligoadenylate synthetase activity, GO:1903487, GO:0060700, GO:0060337, GO:0060337, GO:0060333, GO:0051607, GO:0051607, GO:0051607, GO:0045071, GO:0009617, GO:0009615, GO:0006401, GO:0006139, regulation of lactation, regulation of ribonuclease activity, type I interferon signaling pathway, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, defense response to virus, defense response to virus, negative regulation of viral genome replication, response to bacterium, response to virus, RNA catabolic process, nucleobase-containing compound metabolic process, 84 59 193 155 119 260 165 53 203 ENSG00000111339 chr12 14825569 14843533 - ART4 protein_coding This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]. 420 GO:0031225, GO:0016020, GO:0005886, GO:0005576, anchored component of membrane, membrane, plasma membrane, extracellular region, GO:0106275, GO:0106274, GO:0003956, GO:0003950, NADP+-protein-arginine ADP-ribosyltransferase activity, NAD+-protein-arginine ADP-ribosyltransferase activity, NAD(P)+-protein-arginine ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, GO:0018120, GO:0006525, GO:0006471, peptidyl-arginine ADP-ribosylation, arginine metabolic process, protein ADP-ribosylation, 0 0 0 0 0 0 0 0 0 ENSG00000111341 chr12 14881181 14885926 - MGP protein_coding This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]. 4256 GO:0070062, GO:0062023, GO:0062023, GO:0031012, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, GO:0008147, GO:0005515, GO:0005509, GO:0005201, structural constituent of bone, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0030500, GO:0030154, GO:0001503, GO:0001502, regulation of bone mineralization, cell differentiation, ossification, cartilage condensation, 5 2 6 12 14 3 10 12 1 ENSG00000111344 chr12 113098819 113136239 - RASAL1 protein_coding The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]. 8437 GO:0005886, GO:0005829, GO:0005829, plasma membrane, cytosol, cytosol, GO:0046872, GO:0005543, GO:0005096, metal ion binding, phospholipid binding, GTPase activator activity, GO:1903861, GO:0071277, GO:0046580, GO:0043547, GO:0007165, GO:0000165, positive regulation of dendrite extension, cellular response to calcium ion, negative regulation of Ras protein signal transduction, positive regulation of GTPase activity, signal transduction, MAPK cascade, 0 1 1 0 8 0 0 0 0 ENSG00000111348 chr12 14942017 14961728 - ARHGDIB protein_coding Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]. 397 GO:0070062, GO:0031410, GO:0016020, GO:0005856, GO:0005829, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytoplasmic vesicle, membrane, cytoskeleton, cytosol, cytosol, cytosol, cytoplasm, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005094, GO:0005094, GO:0003924, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, Rho GDP-dissociation inhibitor activity, Rho GDP-dissociation inhibitor activity, GTPase activity, GO:2000249, GO:1901164, GO:0071461, GO:0051056, GO:0043547, GO:0035023, GO:0035023, GO:0007275, GO:0007266, GO:0007162, regulation of actin cytoskeleton reorganization, negative regulation of trophoblast cell migration, cellular response to redox state, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of Rho protein signal transduction, regulation of Rho protein signal transduction, multicellular organism development, Rho protein signal transduction, negative regulation of cell adhesion, 17122 14274 17669 5359 9790 8060 7552 10384 7865 ENSG00000111358 chr12 123633739 123662606 + GTF2H3 protein_coding This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]. 2967 GO:0097550, GO:0005675, GO:0005675, GO:0005669, GO:0005654, GO:0005654, GO:0005634, GO:0000439, GO:0000438, transcription preinitiation complex, transcription factor TFIIH holo complex, transcription factor TFIIH holo complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, transcription factor TFIIH core complex, core TFIIH complex portion of holo TFIIH complex, GO:0047485, GO:0046872, GO:0016251, GO:0005515, protein N-terminus binding, metal ion binding, RNA polymerase II general transcription initiation factor activity, protein binding, GO:0070911, GO:0070816, GO:0033683, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006283, GO:0006281, GO:0000717, global genome nucleotide-excision repair, phosphorylation of RNA polymerase II C-terminal domain, nucleotide-excision repair, DNA incision, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, nucleotide-excision repair, DNA duplex unwinding, 15 6 19 22 19 57 44 13 37 ENSG00000111361 chr12 123620406 123633766 - EIF2B1 protein_coding This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]. 1967 GO:0016020, GO:0005886, GO:0005851, GO:0005851, GO:0005829, GO:0005737, membrane, plasma membrane, eukaryotic translation initiation factor 2B complex, eukaryotic translation initiation factor 2B complex, cytosol, cytoplasm, GO:0042802, GO:0005515, GO:0005085, GO:0005085, GO:0003743, GO:0003743, identical protein binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, translation initiation factor activity, translation initiation factor activity, GO:0050852, GO:0043434, GO:0014003, GO:0009749, GO:0009408, GO:0009408, GO:0006446, GO:0006413, GO:0006413, T cell receptor signaling pathway, response to peptide hormone, oligodendrocyte development, response to glucose, response to heat, response to heat, regulation of translational initiation, translational initiation, translational initiation, 72 79 83 131 71 120 97 83 60 ENSG00000111364 chr12 123602077 123620941 + DDX55 protein_coding This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]. 57696 GO:0016020, GO:0005829, GO:0005730, GO:0005730, GO:0005654, membrane, cytosol, nucleolus, nucleolus, nucleoplasm, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, 34 45 56 82 79 127 83 39 77 ENSG00000111371 chr12 46183063 46270017 - SLC38A1 protein_coding Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]. 81539 GO:0098591, GO:0070062, GO:0043025, GO:0016323, GO:0016021, GO:0005887, GO:0005886, GO:0005886, external side of apical plasma membrane, extracellular exosome, neuronal cell body, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015186, GO:0015179, GO:0015179, GO:0015175, GO:0015171, GO:0015171, GO:0005515, GO:0005295, GO:0005283, L-glutamine transmembrane transporter activity, L-amino acid transmembrane transporter activity, L-amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, neutral amino acid:sodium symporter activity, amino acid:sodium symporter activity, GO:1902475, GO:0150104, GO:0015804, GO:0015804, GO:0006868, GO:0006865, GO:0006814, GO:0003333, GO:0001504, L-alpha-amino acid transmembrane transport, transport across blood-brain barrier, neutral amino acid transport, neutral amino acid transport, glutamine transport, amino acid transport, sodium ion transport, amino acid transmembrane transport, neurotransmitter uptake, 498 369 1141 891 316 978 751 249 768 ENSG00000111404 chr12 18080869 18320107 - RERGL protein_coding 79785 GO:0016020, membrane, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0007165, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000111405 chr12 47709734 47725567 - ENDOU protein_coding This gene encodes a protein with endoribonuclease activity that binds polyuridine-enriched single-stranded RNA. This gene was initially characterized based on its high expression in placenta but was mischaracterized as a serine protease. In mouse, this gene promotes tolerance to self-antigens by regulating B cell activation-induced cell death (AICD). The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2020]. 8909 GO:0005886, GO:0005737, GO:0005737, GO:0005615, GO:0005576, plasma membrane, cytoplasm, cytoplasm, extracellular space, extracellular region, GO:0030247, GO:0030145, GO:0008236, GO:0008236, GO:0008083, GO:0005044, GO:0004521, GO:0004521, GO:0003723, polysaccharide binding, manganese ion binding, serine-type peptidase activity, serine-type peptidase activity, growth factor activity, scavenger receptor activity, endoribonuclease activity, endoribonuclease activity, RNA binding, GO:0090502, GO:0007565, GO:0007165, GO:0006955, GO:0006897, GO:0006508, RNA phosphodiester bond hydrolysis, endonucleolytic, female pregnancy, signal transduction, immune response, endocytosis, proteolysis, 5 5 1 0 2 0 6 4 0 ENSG00000111412 chr12 116710185 116738070 - C12orf49 protein_coding 79794 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0005515, protein binding, GO:2000640, positive regulation of SREBP signaling pathway, 74 147 118 128 126 121 103 109 97 ENSG00000111424 chr12 47841537 47943048 - VDR protein_coding This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]. 7421 GO:0090575, GO:0043235, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, receptor complex, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1902121, GO:1902098, GO:1902098, GO:0070644, GO:0070644, GO:0046965, GO:0046965, GO:0038186, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0004879, GO:0003700, GO:0003677, GO:0000981, GO:0000978, lithocholic acid binding, calcitriol binding, calcitriol binding, vitamin D response element binding, vitamin D response element binding, retinoid X receptor binding, retinoid X receptor binding, lithocholic acid receptor activity, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070561, GO:0070561, GO:0060745, GO:0060558, GO:0060058, GO:0050892, GO:0046697, GO:0045944, GO:0045944, GO:0045892, GO:0045618, GO:0042359, GO:0038183, GO:0030154, GO:0010980, GO:0010839, GO:0010629, GO:0010628, GO:0008285, GO:0007595, GO:0007275, GO:0006874, GO:0006816, GO:0006367, GO:0001501, GO:0000902, GO:0000122, GO:0000122, vitamin D receptor signaling pathway, vitamin D receptor signaling pathway, mammary gland branching involved in pregnancy, regulation of calcidiol 1-monooxygenase activity, positive regulation of apoptotic process involved in mammary gland involution, intestinal absorption, decidualization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of keratinocyte differentiation, vitamin D metabolic process, bile acid signaling pathway, cell differentiation, positive regulation of vitamin D 24-hydroxylase activity, negative regulation of keratinocyte proliferation, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cell population proliferation, lactation, multicellular organism development, cellular calcium ion homeostasis, calcium ion transport, transcription initiation from RNA polymerase II promoter, skeletal system development, cell morphogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 907 760 1311 529 731 805 461 590 484 ENSG00000111432 chr12 130162459 130165740 + FZD10 protein_coding This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]. 11211 GO:0016021, GO:0009986, GO:0005887, GO:0005886, GO:0005737, GO:0005654, integral component of membrane, cell surface, integral component of plasma membrane, plasma membrane, cytoplasm, nucleoplasm, GO:0042813, GO:0042813, GO:0017147, GO:0005515, GO:0004930, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-protein binding, protein binding, G protein-coupled receptor activity, GO:0071300, GO:0060070, GO:0060070, GO:0043547, GO:0043507, GO:0038031, GO:0035567, GO:0034260, GO:0032956, GO:0030182, GO:0007186, cellular response to retinoic acid, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of GTPase activity, positive regulation of JUN kinase activity, non-canonical Wnt signaling pathway via JNK cascade, non-canonical Wnt signaling pathway, negative regulation of GTPase activity, regulation of actin cytoskeleton organization, neuron differentiation, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000111445 chr12 118013588 118033130 + RFC5 protein_coding This gene encodes the smallest subunit of the replication factor C complex, which consists of five distinct subunits (140, 40, 38, 37, and 36 kDa) and is required for DNA replication. This subunit interacts with the C-terminal region of proliferating cell nuclear antigen and is required to open and load proliferating cell nuclear antigen onto DNA during S phase. It is a member of the AAA+ (ATPases associated with various cellular activities) ATPase family and forms a core complex with the 38 and 40 kDa subunits that possesses DNA-dependent ATPase activity. A related pseudogene has been identified on chromosome 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 5985 GO:0031390, GO:0005663, GO:0005663, GO:0005654, GO:0005634, Ctf18 RFC-like complex, DNA replication factor C complex, DNA replication factor C complex, nucleoplasm, nucleus, GO:0019899, GO:0017116, GO:0005524, GO:0005515, GO:0003689, GO:0003689, enzyme binding, single-stranded DNA helicase activity, ATP binding, protein binding, DNA clamp loader activity, DNA clamp loader activity, GO:1901796, GO:1900264, GO:0070987, GO:0042769, GO:0042276, GO:0033683, GO:0032508, GO:0032201, GO:0019985, GO:0006297, GO:0006296, GO:0006283, GO:0006281, GO:0006281, GO:0006261, GO:0006260, GO:0006260, regulation of signal transduction by p53 class mediator, positive regulation of DNA-directed DNA polymerase activity, error-free translesion synthesis, DNA damage response, detection of DNA damage, error-prone translesion synthesis, nucleotide-excision repair, DNA incision, DNA duplex unwinding, telomere maintenance via semi-conservative replication, translesion synthesis, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA repair, DNA repair, DNA-dependent DNA replication, DNA replication, DNA replication, 56 53 64 77 67 54 68 58 28 ENSG00000111450 chr12 130789600 130839266 - STX2 protein_coding The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 2054 GO:0048787, GO:0043231, GO:0032991, GO:0031201, GO:0030027, GO:0016323, GO:0016021, GO:0012505, GO:0008021, GO:0005886, GO:0005886, GO:0005615, presynaptic active zone membrane, intracellular membrane-bounded organelle, protein-containing complex, SNARE complex, lamellipodium, basolateral plasma membrane, integral component of membrane, endomembrane system, synaptic vesicle, plasma membrane, plasma membrane, extracellular space, GO:0048306, GO:0005515, GO:0005484, GO:0005198, GO:0000149, calcium-dependent protein binding, protein binding, SNAP receptor activity, structural molecule activity, SNARE binding, GO:1903575, GO:0048278, GO:0034599, GO:0031629, GO:0030154, GO:0009887, GO:0007398, GO:0007340, GO:0007165, GO:0006906, GO:0006887, GO:0006886, cornified envelope assembly, vesicle docking, cellular response to oxidative stress, synaptic vesicle fusion to presynaptic active zone membrane, cell differentiation, animal organ morphogenesis, ectoderm development, acrosome reaction, signal transduction, vesicle fusion, exocytosis, intracellular protein transport, 34 27 84 124 32 111 90 37 65 ENSG00000111452 chr12 130953907 131141469 + ADGRD1 protein_coding The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]. 283383 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0004930, GO:0004930, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0007189, GO:0007189, GO:0007186, GO:0007166, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 1 2 3 0 0 0 3 5 4 ENSG00000111481 chr12 54301202 54351849 + COPZ1 protein_coding This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 22818 GO:0030133, GO:0030126, GO:0030126, GO:0030126, GO:0005829, GO:0005789, GO:0000139, transport vesicle, COPI vesicle coat, COPI vesicle coat, COPI vesicle coat, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:1901998, GO:0006891, GO:0006891, GO:0006891, GO:0006890, GO:0006890, GO:0006888, GO:0006886, toxin transport, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 205 213 216 151 188 222 135 193 155 ENSG00000111490 chr12 64780516 64881032 + TBC1D30 protein_coding 23329 GO:0036064, GO:0005929, GO:0005886, GO:0005829, ciliary basal body, cilium, plasma membrane, cytosol, GO:0031267, GO:0031267, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, GTPase activator activity, GTPase activator activity, GO:1902018, GO:0090630, GO:0043547, GO:0006886, negative regulation of cilium assembly, activation of GTPase activity, positive regulation of GTPase activity, intracellular protein transport, 163 204 139 107 183 113 117 144 118 ENSG00000111530 chr12 67269281 67319951 + CAND1 protein_coding This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 55832 GO:1904813, GO:0070062, GO:0034774, GO:0031461, GO:0016020, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, GO:0000151, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, cullin-RING ubiquitin ligase complex, membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, ubiquitin ligase complex, GO:0017025, GO:0005515, TBP-class protein binding, protein binding, GO:0045899, GO:0043687, GO:0043312, GO:0043086, GO:0030154, GO:0016567, GO:0016567, GO:0010265, GO:0010265, GO:0006879, positive regulation of RNA polymerase II transcription preinitiation complex assembly, post-translational protein modification, neutrophil degranulation, negative regulation of catalytic activity, cell differentiation, protein ubiquitination, protein ubiquitination, SCF complex assembly, SCF complex assembly, cellular iron ion homeostasis, 159 189 324 314 184 319 249 121 219 ENSG00000111536 chr12 68201351 68225821 - IL26 protein_coding This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008]. 55801 GO:0005829, GO:0005615, GO:0005576, cytosol, extracellular space, extracellular region, GO:0005125, cytokine activity, GO:0070374, GO:0051897, GO:0050680, GO:0046427, GO:0045944, GO:0032874, GO:0019221, GO:0007267, GO:0001819, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, negative regulation of epithelial cell proliferation, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription by RNA polymerase II, positive regulation of stress-activated MAPK cascade, cytokine-mediated signaling pathway, cell-cell signaling, positive regulation of cytokine production, 0 1 0 0 0 5 3 0 0 ENSG00000111537 chr12 68154768 68159747 - IFNG protein_coding This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]. 3458 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005133, GO:0005125, protein binding, interferon-gamma receptor binding, cytokine activity, GO:2000309, GO:1904798, GO:1904783, GO:1904440, GO:1903543, GO:1903078, GO:1902948, GO:1902004, GO:1902004, GO:1901857, GO:1901216, GO:1900222, GO:0150076, GO:0097191, GO:0090312, GO:0071902, GO:0060559, GO:0060557, GO:0060552, GO:0060550, GO:0060334, GO:0060333, GO:0060333, GO:0051770, GO:0051712, GO:0051607, GO:0051173, GO:0051044, GO:0050796, GO:0050769, GO:0050766, GO:0050729, GO:0048662, GO:0048143, GO:0048143, GO:0045892, GO:0045821, GO:0045672, GO:0045589, GO:0045429, GO:0045348, GO:0042531, GO:0042307, GO:0040008, GO:0035722, GO:0034393, GO:0033141, GO:0033141, GO:0032834, GO:0032760, GO:0032755, GO:0032747, GO:0032735, GO:0032731, GO:0032722, GO:0032700, GO:0031334, GO:0030857, GO:0030225, GO:0010835, GO:0010634, GO:0010629, GO:0010629, GO:0010628, GO:0010628, GO:0010628, GO:0010628, GO:0010628, GO:0010508, GO:0009615, GO:0008284, GO:0007259, GO:0007166, GO:0007050, GO:0006959, GO:0006915, GO:0002281, GO:0002250, GO:0001934, GO:0001819, GO:0001774, GO:0001774, GO:0000122, positive regulation of tumor necrosis factor (ligand) superfamily member 11 production, positive regulation of core promoter binding, positive regulation of NMDA glutamate receptor activity, positive regulation of iron ion import across plasma membrane, positive regulation of exosomal secretion, positive regulation of protein localization to plasma membrane, negative regulation of tau-protein kinase activity, positive regulation of amyloid-beta formation, positive regulation of amyloid-beta formation, positive regulation of cellular respiration, positive regulation of neuron death, negative regulation of amyloid-beta clearance, neuroinflammatory response, extrinsic apoptotic signaling pathway, positive regulation of protein deacetylation, positive regulation of protein serine/threonine kinase activity, positive regulation of calcidiol 1-monooxygenase activity, positive regulation of vitamin D biosynthetic process, positive regulation of fructose 1,6-bisphosphate metabolic process, positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity, regulation of interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of killing of cells of other organism, defense response to virus, positive regulation of nitrogen compound metabolic process, positive regulation of membrane protein ectodomain proteolysis, regulation of insulin secretion, positive regulation of neurogenesis, positive regulation of phagocytosis, positive regulation of inflammatory response, negative regulation of smooth muscle cell proliferation, astrocyte activation, astrocyte activation, negative regulation of transcription, DNA-templated, positive regulation of glycolytic process, positive regulation of osteoclast differentiation, regulation of regulatory T cell differentiation, positive regulation of nitric oxide biosynthetic process, positive regulation of MHC class II biosynthetic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of protein import into nucleus, regulation of growth, interleukin-12-mediated signaling pathway, positive regulation of smooth muscle cell apoptotic process, positive regulation of peptidyl-serine phosphorylation of STAT protein, positive regulation of peptidyl-serine phosphorylation of STAT protein, positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-23 production, positive regulation of interleukin-12 production, positive regulation of interleukin-1 beta production, positive regulation of chemokine production, negative regulation of interleukin-17 production, positive regulation of protein-containing complex assembly, negative regulation of epithelial cell differentiation, macrophage differentiation, regulation of protein ADP-ribosylation, positive regulation of epithelial cell migration, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of autophagy, response to virus, positive regulation of cell population proliferation, receptor signaling pathway via JAK-STAT, cell surface receptor signaling pathway, cell cycle arrest, humoral immune response, apoptotic process, macrophage activation involved in immune response, adaptive immune response, positive regulation of protein phosphorylation, positive regulation of cytokine production, microglial cell activation, microglial cell activation, negative regulation of transcription by RNA polymerase II, 1 5 13 79 9 121 74 10 87 ENSG00000111540 chr12 55973913 55996683 + RAB5B protein_coding 5869 GO:0098993, GO:0070062, GO:0070062, GO:0043231, GO:0042470, GO:0031901, GO:0030667, GO:0030139, GO:0016020, GO:0012505, GO:0005886, GO:0005886, GO:0005769, GO:0005768, GO:0005768, anchored component of synaptic vesicle membrane, extracellular exosome, extracellular exosome, intracellular membrane-bounded organelle, melanosome, early endosome membrane, secretory granule membrane, endocytic vesicle, membrane, endomembrane system, plasma membrane, plasma membrane, early endosome, endosome, endosome, GO:0030742, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GTP-dependent protein binding, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0048227, GO:0043312, GO:0030100, GO:0019882, GO:0007032, GO:0006897, GO:0006886, plasma membrane to endosome transport, neutrophil degranulation, regulation of endocytosis, antigen processing and presentation, endosome organization, endocytosis, intracellular protein transport, 2532 2786 2999 638 1424 961 939 1313 950 ENSG00000111554 chr12 68272443 68332381 - MDM1 protein_coding This gene encodes a microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration. [provided by RefSeq, Feb 2019]. 56890 GO:0005874, GO:0005829, GO:0005814, GO:0005813, GO:0005634, microtubule, cytosol, centriole, centrosome, nucleus, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0060041, GO:0046600, GO:0045494, retina development in camera-type eye, negative regulation of centriole replication, photoreceptor cell maintenance, 174 178 199 153 208 197 170 169 145 ENSG00000111581 chr12 68686734 68745809 + NUP107 protein_coding This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 57122 GO:0043657, GO:0034399, GO:0031965, GO:0031080, GO:0031080, GO:0031080, GO:0016020, GO:0005829, GO:0005643, GO:0005635, GO:0000777, GO:0000776, host cell, nuclear periphery, nuclear membrane, nuclear pore outer ring, nuclear pore outer ring, nuclear pore outer ring, membrane, cytosol, nuclear pore, nuclear envelope, condensed chromosome kinetochore, kinetochore, GO:0017056, GO:0017056, GO:0017056, GO:0005515, structural constituent of nuclear pore, structural constituent of nuclear pore, structural constituent of nuclear pore, protein binding, GO:1900034, GO:0075733, GO:0072006, GO:0060964, GO:0051292, GO:0019083, GO:0016925, GO:0016032, GO:0008585, GO:0006606, GO:0006409, GO:0006406, GO:0006406, GO:0006406, GO:0006355, GO:0006110, GO:0000973, regulation of cellular response to heat, intracellular transport of virus, nephron development, regulation of gene silencing by miRNA, nuclear pore complex assembly, viral transcription, protein sumoylation, viral process, female gonad development, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, regulation of transcription, DNA-templated, regulation of glycolytic process, posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery, 91 127 137 161 131 183 119 99 128 ENSG00000111596 chr12 70242994 70354993 + CNOT2 protein_coding This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]. 4848 GO:0030015, GO:0030014, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000932, CCR4-NOT core complex, CCR4-NOT complex, membrane, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, P-body, GO:0005515, GO:0004535, GO:0003712, GO:0001226, protein binding, poly(A)-specific ribonuclease activity, transcription coregulator activity, RNA polymerase II transcription corepressor binding, GO:2000036, GO:2000036, GO:0090503, GO:0033147, GO:0031047, GO:0010606, GO:0006977, GO:0006357, GO:0001829, GO:0000289, GO:0000289, GO:0000122, regulation of stem cell population maintenance, regulation of stem cell population maintenance, RNA phosphodiester bond hydrolysis, exonucleolytic, negative regulation of intracellular estrogen receptor signaling pathway, gene silencing by RNA, positive regulation of cytoplasmic mRNA processing body assembly, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription by RNA polymerase II, trophectodermal cell differentiation, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, negative regulation of transcription by RNA polymerase II, 617 595 793 400 596 698 612 507 539 ENSG00000111602 chr12 56416373 56449403 - TIMELESS protein_coding The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]. 8914 GO:0035861, GO:0031298, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, site of double-strand break, replication fork protection complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0005515, GO:0003677, protein binding, DNA binding, GO:2000781, GO:1905168, GO:1904976, GO:0072719, GO:0072711, GO:0051301, GO:0048754, GO:0048478, GO:0045892, GO:0044770, GO:0043111, GO:0042752, GO:0042127, GO:0030324, GO:0009582, GO:0007623, GO:0006974, GO:0006974, GO:0006281, GO:0006260, GO:0002009, GO:0000122, GO:0000076, positive regulation of double-strand break repair, positive regulation of double-strand break repair via homologous recombination, cellular response to bleomycin, cellular response to cisplatin, cellular response to hydroxyurea, cell division, branching morphogenesis of an epithelial tube, replication fork protection, negative regulation of transcription, DNA-templated, cell cycle phase transition, replication fork arrest, regulation of circadian rhythm, regulation of cell population proliferation, lung development, detection of abiotic stimulus, circadian rhythm, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, DNA repair, DNA replication, morphogenesis of an epithelium, negative regulation of transcription by RNA polymerase II, DNA replication checkpoint, 8 6 7 29 6 21 6 9 28 ENSG00000111605 chr12 69239537 69274358 + CPSF6 protein_coding The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]. 11052 GO:1990904, GO:0042382, GO:0035061, GO:0016607, GO:0016020, GO:0005849, GO:0005847, GO:0005737, GO:0005726, GO:0005654, GO:0005634, ribonucleoprotein complex, paraspeckles, interchromatin granule, nuclear speck, membrane, mRNA cleavage factor complex, mRNA cleavage and polyadenylation specificity factor complex, cytoplasm, perichromatin fibrils, nucleoplasm, nucleus, GO:1990448, GO:0043023, GO:0005515, GO:0003729, GO:0003723, GO:0003723, exon-exon junction complex binding, ribosomal large subunit binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:1990120, GO:0110104, GO:0098789, GO:0051290, GO:0051262, GO:0046833, GO:0006397, messenger ribonucleoprotein complex assembly, mRNA alternative polyadenylation, pre-mRNA cleavage required for polyadenylation, protein heterotetramerization, protein tetramerization, positive regulation of RNA export from nucleus, mRNA processing, 430 484 547 462 379 616 574 310 421 ENSG00000111615 chr12 75490861 75511636 - KRR1 protein_coding 11103 GO:0045171, GO:0032040, GO:0016020, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, intercellular bridge, small-subunit processome, membrane, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006364, rRNA processing, 1630 1583 2231 609 1114 933 782 995 878 ENSG00000111639 chr12 6491886 6493841 - MRPL51 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]. 51258 GO:0005762, GO:0005762, GO:0005762, GO:0005761, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, protein binding, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, GO:0006412, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, translation, 88 76 142 77 100 82 69 80 82 ENSG00000111640 chr12 6533927 6538374 + GAPDH protein_coding This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 2597 GO:1990904, GO:0097452, GO:0070062, GO:0048471, GO:0043231, GO:0031982, GO:0031965, GO:0016020, GO:0015630, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005811, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005634, ribonucleoprotein complex, GAIT complex, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, vesicle, nuclear membrane, membrane, microtubule cytoskeleton, plasma membrane, cytosol, cytosol, cytosol, cytosol, lipid droplet, cytoplasm, cytoplasm, nucleus, nucleus, nucleus, GO:0097718, GO:0051287, GO:0050661, GO:0042802, GO:0035605, GO:0019828, GO:0008017, GO:0005515, GO:0004365, GO:0004365, GO:0004365, disordered domain specific binding, NAD binding, NADP binding, identical protein binding, peptidyl-cysteine S-nitrosylase activity, aspartic-type endopeptidase inhibitor activity, microtubule binding, protein binding, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity, GO:0071346, GO:0061844, GO:0061621, GO:0051873, GO:0051712, GO:0051402, GO:0050832, GO:0050821, GO:0035606, GO:0031640, GO:0017148, GO:0017148, GO:0016241, GO:0010951, GO:0006096, GO:0006094, GO:0001819, GO:0000226, cellular response to interferon-gamma, antimicrobial humoral immune response mediated by antimicrobial peptide, canonical glycolysis, killing by host of symbiont cells, positive regulation of killing of cells of other organism, neuron apoptotic process, defense response to fungus, protein stabilization, peptidyl-cysteine S-trans-nitrosylation, killing of cells of other organism, negative regulation of translation, negative regulation of translation, regulation of macroautophagy, negative regulation of endopeptidase activity, glycolytic process, gluconeogenesis, positive regulation of cytokine production, microtubule cytoskeleton organization, 3033 3558 4859 2363 3274 3844 2250 2695 2843 ENSG00000111641 chr12 6556863 6568691 - NOP2 protein_coding 4839 GO:0005730, GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleolus, nucleoplasm, GO:0009383, GO:0005515, GO:0003723, rRNA (cytosine-C5-)-methyltransferase activity, protein binding, RNA binding, GO:1901796, GO:0070475, GO:0008284, GO:0006357, GO:0001510, GO:0000470, GO:0000027, regulation of signal transduction by p53 class mediator, rRNA base methylation, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, RNA methylation, maturation of LSU-rRNA, ribosomal large subunit assembly, 22 12 24 90 66 112 56 31 68 ENSG00000111642 chr12 6570082 6614524 - CHD4 protein_coding The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. 1108 GO:0090575, GO:0032991, GO:0016581, GO:0016020, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0000785, RNA polymerase II transcription regulator complex, protein-containing complex, NuRD complex, membrane, centrosome, cytoplasm, nucleoplasm, nucleoplasm, chromatin, GO:0042826, GO:0031492, GO:0008270, GO:0008134, GO:0005524, GO:0005515, GO:0003678, GO:0003677, GO:0001103, histone deacetylase binding, nucleosomal DNA binding, zinc ion binding, transcription factor binding, ATP binding, protein binding, DNA helicase activity, DNA binding, RNA polymerase II repressing transcription factor binding, GO:1901796, GO:0043044, GO:0032508, GO:0006357, regulation of signal transduction by p53 class mediator, ATP-dependent chromatin remodeling, DNA duplex unwinding, regulation of transcription by RNA polymerase II, 400 572 568 802 1124 1303 760 652 968 ENSG00000111644 chr12 6638075 6647460 - ACRBP protein_coding The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]. 84519 GO:0005634, GO:0005576, GO:0002080, GO:0001669, GO:0001669, nucleus, extracellular region, acrosomal membrane, acrosomal vesicle, acrosomal vesicle, GO:0003674, molecular_function, GO:0009566, GO:0008150, GO:0007286, GO:0001675, fertilization, biological_process, spermatid development, acrosome assembly, 44 61 49 68 135 90 58 83 73 ENSG00000111647 chr12 100028455 100142848 - UHRF1BP1L protein_coding 23074 GO:0005829, GO:0005769, cytosol, early endosome, GO:0062069, GO:0042803, GO:0005515, GARP complex binding, protein homodimerization activity, protein binding, 1935 1559 1932 703 1062 923 835 886 858 ENSG00000111652 chr12 6723741 6731875 + COPS7A protein_coding This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]. 50813 GO:0008180, GO:0008180, GO:0005829, GO:0005829, GO:0005654, GO:0005654, COP9 signalosome, COP9 signalosome, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0016032, GO:0010387, GO:0006283, GO:0000715, GO:0000338, post-translational protein modification, viral process, COP9 signalosome assembly, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA damage recognition, protein deneddylation, 204 190 135 113 151 107 128 148 140 ENSG00000111653 chr12 6650280 6663148 - ING4 protein_coding This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008]. 51147 GO:0045111, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000123, intermediate filament cytoskeleton, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, histone acetyltransferase complex, GO:0046872, GO:0035064, GO:0035064, GO:0005515, GO:0003713, metal ion binding, methylated histone binding, methylated histone binding, protein binding, transcription coactivator activity, GO:1903508, GO:0045926, GO:0045892, GO:0043984, GO:0043983, GO:0043982, GO:0043981, GO:0043966, GO:0043065, GO:0043065, GO:0008285, GO:0007050, GO:0006978, GO:0006915, GO:0006473, GO:0006260, positive regulation of nucleic acid-templated transcription, negative regulation of growth, negative regulation of transcription, DNA-templated, histone H4-K16 acetylation, histone H4-K12 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H3 acetylation, positive regulation of apoptotic process, positive regulation of apoptotic process, negative regulation of cell population proliferation, cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, apoptotic process, protein acetylation, DNA replication, 279 311 275 104 192 176 141 180 174 ENSG00000111664 chr12 6839954 6847393 + GNB3 protein_coding Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]. 2784 GO:0070062, GO:0044297, GO:0030425, GO:0005886, GO:0005834, GO:0005829, GO:0005737, extracellular exosome, cell body, dendrite, plasma membrane, heterotrimeric G-protein complex, cytosol, cytoplasm, GO:0051020, GO:0031682, GO:0030507, GO:0005515, GO:0003924, GTPase binding, G-protein gamma-subunit binding, spectrin binding, protein binding, GTPase activity, GO:1903725, GO:0090325, GO:0090207, GO:0090181, GO:0060259, GO:0045598, GO:0032350, GO:0010906, GO:0010468, GO:0008217, GO:0007186, GO:0006884, GO:0006457, regulation of phospholipid metabolic process, regulation of locomotion involved in locomotory behavior, regulation of triglyceride metabolic process, regulation of cholesterol metabolic process, regulation of feeding behavior, regulation of fat cell differentiation, regulation of hormone metabolic process, regulation of glucose metabolic process, regulation of gene expression, regulation of blood pressure, G protein-coupled receptor signaling pathway, cell volume homeostasis, protein folding, 11 8 0 17 6 1 35 9 10 ENSG00000111665 chr12 6844793 6852066 - CDCA3 protein_coding 83461 GO:0005912, GO:0005829, adherens junction, cytosol, GO:0005515, protein binding, GO:0051301, GO:0016567, GO:0008150, GO:0007049, cell division, protein ubiquitination, biological_process, cell cycle, 3 3 3 14 1 0 24 7 2 ENSG00000111666 chr12 101696947 101744140 + CHPT1 protein_coding 56994 GO:0043231, GO:0016021, GO:0016020, GO:0005794, GO:0005789, GO:0000139, intracellular membrane-bounded organelle, integral component of membrane, membrane, Golgi apparatus, endoplasmic reticulum membrane, Golgi membrane, GO:0046872, GO:0019992, GO:0005515, GO:0004142, GO:0004142, metal ion binding, diacylglycerol binding, protein binding, diacylglycerol cholinephosphotransferase activity, diacylglycerol cholinephosphotransferase activity, GO:0006663, GO:0006657, GO:0006656, GO:0006656, GO:0006629, GO:0001558, platelet activating factor biosynthetic process, CDP-choline pathway, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, lipid metabolic process, regulation of cell growth, 172 124 190 64 144 75 108 109 108 ENSG00000111667 chr12 6852128 6866632 + USP5 protein_coding Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]. 8078 GO:0005829, GO:0005829, GO:0005764, GO:0005634, cytosol, cytosol, lysosome, nucleus, GO:0043130, GO:0008270, GO:0005515, GO:0004843, GO:0004843, GO:0004197, ubiquitin binding, zinc ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0071108, GO:0032436, GO:0016579, GO:0016579, GO:0016579, GO:0016567, GO:0006511, protein K48-linked deubiquitination, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, 22 31 51 84 41 89 60 24 61 ENSG00000111669 chr12 6867119 6870948 + TPI1 protein_coding This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 7167 GO:0070062, GO:0005829, GO:0005829, GO:0005634, GO:0005615, extracellular exosome, cytosol, cytosol, nucleus, extracellular space, GO:0042803, GO:0031625, GO:0008929, GO:0005515, GO:0004807, GO:0004807, GO:0004807, GO:0004807, protein homodimerization activity, ubiquitin protein ligase binding, methylglyoxal synthase activity, protein binding, triose-phosphate isomerase activity, triose-phosphate isomerase activity, triose-phosphate isomerase activity, triose-phosphate isomerase activity, GO:0061621, GO:0046166, GO:0046166, GO:0019563, GO:0019242, GO:0006096, GO:0006094, GO:0006094, GO:0006094, canonical glycolysis, glyceraldehyde-3-phosphate biosynthetic process, glyceraldehyde-3-phosphate biosynthetic process, glycerol catabolic process, methylglyoxal biosynthetic process, glycolytic process, gluconeogenesis, gluconeogenesis, gluconeogenesis, 1056 1119 1416 922 1869 1333 758 1292 961 ENSG00000111670 chr12 101745497 101830938 - GNPTAB protein_coding This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]. 79158 GO:0016021, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0005515, GO:0005509, GO:0003976, GO:0003976, GO:0003976, protein binding, calcium ion binding, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity, GO:0046835, GO:0046835, GO:0033299, GO:0016256, GO:0016256, GO:0007040, carbohydrate phosphorylation, carbohydrate phosphorylation, secretion of lysosomal enzymes, N-glycan processing to lysosome, N-glycan processing to lysosome, lysosome organization, 236 228 281 273 224 376 240 213 254 ENSG00000111671 chr12 6870935 6889358 - SPSB2 protein_coding This gene encodes a member of a subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine signaling (SOCS) box. This protein plays a role in cell signaling. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 84727 GO:0019005, GO:0005829, GO:0005829, SCF ubiquitin ligase complex, cytosol, cytosol, GO:1990756, GO:0005515, ubiquitin ligase-substrate adaptor activity, protein binding, GO:0043687, GO:0043161, GO:0035556, GO:0016567, GO:0016567, GO:0016032, GO:0006511, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, intracellular signal transduction, protein ubiquitination, protein ubiquitination, viral process, ubiquitin-dependent protein catabolic process, 19 40 43 61 140 120 60 65 78 ENSG00000111674 chr12 6913745 6923698 + ENO2 protein_coding This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]. 2026 GO:0070062, GO:0043204, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005615, GO:0001917, GO:0000015, extracellular exosome, perikaryon, membrane, plasma membrane, cytosol, cytosol, extracellular space, photoreceptor inner segment, phosphopyruvate hydratase complex, GO:0005515, GO:0004634, GO:0004634, GO:0000287, protein binding, phosphopyruvate hydratase activity, phosphopyruvate hydratase activity, magnesium ion binding, GO:0061621, GO:0032889, GO:0006096, GO:0006096, GO:0006094, canonical glycolysis, regulation of vacuole fusion, non-autophagic, glycolytic process, glycolytic process, gluconeogenesis, 32 18 61 114 39 119 112 30 58 ENSG00000111676 chr12 6924463 6942321 + ATN1 protein_coding Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]. 1822 GO:0048471, GO:0030054, GO:0016363, GO:0005737, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, cell junction, nuclear matrix, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0019904, GO:0005515, GO:0003714, GO:0003714, GO:0001085, protein domain specific binding, protein binding, transcription corepressor activity, transcription corepressor activity, RNA polymerase II transcription factor binding, GO:0051402, GO:0007417, GO:0000122, neuron apoptotic process, central nervous system development, negative regulation of transcription by RNA polymerase II, 41 41 77 89 46 123 86 41 135 ENSG00000111678 chr12 6942978 6946003 + C12orf57 protein_coding This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. 113246 GO:0016607, GO:0005737, nuclear speck, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0050890, GO:0048593, GO:0036343, GO:0021678, GO:0021540, GO:0014819, GO:0009791, GO:0009791, cognition, camera-type eye morphogenesis, psychomotor behavior, third ventricle development, corpus callosum morphogenesis, regulation of skeletal muscle contraction, post-embryonic development, post-embryonic development, 51 25 49 173 76 192 112 54 106 ENSG00000111679 chr12 6946468 6961316 + PTPN6 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]. 5777 GO:1904724, GO:0070062, GO:0042105, GO:0035580, GO:0032991, GO:0016020, GO:0005911, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005576, tertiary granule lumen, extracellular exosome, alpha-beta T cell receptor complex, specific granule lumen, protein-containing complex, membrane, cell-cell junction, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, extracellular region, GO:0140031, GO:0050839, GO:0042169, GO:0019901, GO:0017124, GO:0005515, GO:0005001, GO:0004725, GO:0004725, GO:0001784, GO:0001784, phosphorylation-dependent protein binding, cell adhesion molecule binding, SH2 domain binding, protein kinase binding, SH3 domain binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, phosphotyrosine residue binding, phosphotyrosine residue binding, GO:2000045, GO:1905867, GO:0071345, GO:0070527, GO:0070372, GO:0060338, GO:0051279, GO:0050900, GO:0050860, GO:0050853, GO:0050732, GO:0045577, GO:0043407, GO:0043312, GO:0042981, GO:0042267, GO:0042130, GO:0035855, GO:0035556, GO:0035335, GO:0033630, GO:0033277, GO:0032720, GO:0032715, GO:0031295, GO:0030220, GO:0030168, GO:0030154, GO:0019221, GO:0018108, GO:0014068, GO:0008285, GO:0008284, GO:0007186, GO:0006470, GO:0002924, GO:0002244, regulation of G1/S transition of mitotic cell cycle, epididymis development, cellular response to cytokine stimulus, platelet aggregation, regulation of ERK1 and ERK2 cascade, regulation of type I interferon-mediated signaling pathway, regulation of release of sequestered calcium ion into cytosol, leukocyte migration, negative regulation of T cell receptor signaling pathway, B cell receptor signaling pathway, negative regulation of peptidyl-tyrosine phosphorylation, regulation of B cell differentiation, negative regulation of MAP kinase activity, neutrophil degranulation, regulation of apoptotic process, natural killer cell mediated cytotoxicity, negative regulation of T cell proliferation, megakaryocyte development, intracellular signal transduction, peptidyl-tyrosine dephosphorylation, positive regulation of cell adhesion mediated by integrin, abortive mitotic cell cycle, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, T cell costimulation, platelet formation, platelet activation, cell differentiation, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cell population proliferation, positive regulation of cell population proliferation, G protein-coupled receptor signaling pathway, protein dephosphorylation, negative regulation of humoral immune response mediated by circulating immunoglobulin, hematopoietic progenitor cell differentiation, 9224 7966 11514 6691 8867 8096 6415 6270 7020 ENSG00000111684 chr12 6976186 7018510 - LPCAT3 protein_coding 10162 GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0106263, GO:0106262, GO:0106262, GO:0071617, GO:0047184, GO:0047184, GO:0047184, GO:0016746, 1-acylglycerophosphoserine O-acyltransferase activity, 1-acylglycerophosphoethanolamine O-acyltransferase activity, 1-acylglycerophosphoethanolamine O-acyltransferase activity, lysophospholipid acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, transferase activity, transferring acyl groups, GO:1905885, GO:1903573, GO:1901310, GO:0090158, GO:0050728, GO:0045797, GO:0045540, GO:0036335, GO:0036152, GO:0036152, GO:0036152, GO:0036151, GO:0036151, GO:0036151, GO:0036151, GO:0036150, GO:0036150, GO:0036150, GO:0034379, GO:0034378, GO:0030258, GO:0006656, positive regulation of triglyceride transport, negative regulation of response to endoplasmic reticulum stress, positive regulation of sterol regulatory element binding protein cleavage, endoplasmic reticulum membrane organization, negative regulation of inflammatory response, positive regulation of intestinal cholesterol absorption, regulation of cholesterol biosynthetic process, intestinal stem cell homeostasis, phosphatidylethanolamine acyl-chain remodeling, phosphatidylethanolamine acyl-chain remodeling, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, very-low-density lipoprotein particle assembly, chylomicron assembly, lipid modification, phosphatidylcholine biosynthetic process, 523 464 626 373 408 457 403 350 403 ENSG00000111696 chr12 103770453 103841197 - NT5DC3 protein_coding 51559 GO:0043235, receptor complex, GO:0046872, GO:0008253, metal ion binding, 5'-nucleotidase activity, GO:0016311, dephosphorylation, 59 83 79 50 67 83 33 43 37 ENSG00000111700 chr12 20810702 20916911 + SLCO1B3 protein_coding This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]. 28234 GO:0016323, GO:0005887, GO:0005886, GO:0005886, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015347, GO:0015125, GO:0015125, GO:0008514, sodium-independent organic anion transmembrane transporter activity, bile acid transmembrane transporter activity, bile acid transmembrane transporter activity, organic anion transmembrane transporter activity, GO:0055085, GO:0043252, GO:0043252, GO:0015721, GO:0015721, GO:0015711, transmembrane transport, sodium-independent organic anion transport, sodium-independent organic anion transport, bile acid and bile salt transport, bile acid and bile salt transport, organic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000111701 chr12 7649400 7665903 - APOBEC1 protein_coding This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]. 339 GO:0005737, GO:0005737, GO:0005654, GO:0005634, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0043021, GO:0035925, GO:0019904, GO:0008270, GO:0008047, GO:0005515, GO:0004131, GO:0004126, GO:0004126, GO:0003723, ribonucleoprotein complex binding, mRNA 3'-UTR AU-rich region binding, protein domain specific binding, zinc ion binding, enzyme activator activity, protein binding, cytosine deaminase activity, cytidine deaminase activity, cytidine deaminase activity, RNA binding, GO:0090366, GO:0090310, GO:0090209, GO:0080111, GO:0080111, GO:0070383, GO:0051607, GO:0051592, GO:0048255, GO:0045471, GO:0043085, GO:0042953, GO:0042493, GO:0042158, GO:0042127, GO:0032869, GO:0016556, GO:0016554, GO:0016554, GO:0010332, GO:0010043, GO:0009972, GO:0006970, GO:0006641, GO:0006629, GO:0006397, GO:0006396, positive regulation of mRNA modification, negative regulation of DNA methylation-dependent heterochromatin assembly, negative regulation of triglyceride metabolic process, DNA demethylation, DNA demethylation, DNA cytosine deamination, defense response to virus, response to calcium ion, mRNA stabilization, response to ethanol, positive regulation of catalytic activity, lipoprotein transport, response to drug, lipoprotein biosynthetic process, regulation of cell population proliferation, cellular response to insulin stimulus, mRNA modification, cytidine to uridine editing, cytidine to uridine editing, response to gamma radiation, response to zinc ion, cytidine deamination, response to osmotic stress, triglyceride metabolic process, lipid metabolic process, mRNA processing, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000111704 chr12 7787794 7799141 + NANOG protein_coding The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. 79923 GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, nucleolus, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000648, GO:0045944, GO:0045595, GO:0035019, GO:0035019, GO:0030154, GO:0019827, GO:0019827, GO:0019221, GO:0010468, GO:0006357, GO:0006355, GO:0001714, GO:0000122, positive regulation of stem cell proliferation, positive regulation of transcription by RNA polymerase II, regulation of cell differentiation, somatic stem cell population maintenance, somatic stem cell population maintenance, cell differentiation, stem cell population maintenance, stem cell population maintenance, cytokine-mediated signaling pathway, regulation of gene expression, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, endodermal cell fate specification, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 3 ENSG00000111707 chr12 118376380 118418031 + SUDS3 protein_coding SDS3 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]. 64426 GO:0070822, GO:0016604, GO:0016580, GO:0005829, GO:0005654, GO:0005634, Sin3-type complex, nuclear body, Sin3 complex, cytosol, nucleoplasm, nucleus, GO:0042826, GO:0042826, GO:0019899, GO:0005515, GO:0004407, GO:0004407, histone deacetylase binding, histone deacetylase binding, enzyme binding, protein binding, histone deacetylase activity, histone deacetylase activity, GO:0045892, GO:0043065, GO:0021762, GO:0016579, GO:0016575, GO:0016575, GO:0006915, GO:0000122, GO:0000122, negative regulation of transcription, DNA-templated, positive regulation of apoptotic process, substantia nigra development, protein deubiquitination, histone deacetylation, histone deacetylation, apoptotic process, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 860 865 1084 701 1006 887 826 794 833 ENSG00000111711 chr12 21501781 21518408 + GOLT1B protein_coding 51026 GO:0032991, GO:0016021, GO:0016020, GO:0016020, GO:0005783, GO:0005783, GO:0000139, protein-containing complex, integral component of membrane, membrane, membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:0043123, GO:0016192, GO:0015031, positive regulation of I-kappaB kinase/NF-kappaB signaling, vesicle-mediated transport, protein transport, 93 92 136 125 69 89 93 29 89 ENSG00000111713 chr12 21536189 21604847 - GYS2 protein_coding The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]. 2998 GO:0043265, GO:0030864, GO:0005938, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005737, ectoplasm, cortical actin cytoskeleton, cell cortex, cytoskeleton, cytosol, cytosol, cytoplasm, cytoplasm, GO:0061547, GO:0004373, GO:0004373, GO:0004373, GO:0004373, glycogen synthase activity, transferring glucose-1-phosphate, glycogen (starch) synthase activity, glycogen (starch) synthase activity, glycogen (starch) synthase activity, glycogen (starch) synthase activity, GO:0009749, GO:0006091, GO:0005978, GO:0005978, GO:0005978, GO:0005978, GO:0005978, response to glucose, generation of precursor metabolites and energy, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000111716 chr12 21635342 21757857 - LDHB protein_coding This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016]. 3945 GO:0070062, GO:0045121, GO:0016020, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, membrane raft, membrane, cytosol, cytosol, cytoplasm, GO:0042802, GO:0005515, GO:0004459, identical protein binding, protein binding, L-lactate dehydrogenase activity, GO:0055114, GO:0006090, GO:0005975, oxidation-reduction process, pyruvate metabolic process, carbohydrate metabolic process, 6 3 15 25 6 10 23 9 14 ENSG00000111725 chr12 119667753 119681630 + PRKAB1 protein_coding The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]. 5564 GO:0031588, GO:0005829, GO:0005737, GO:0005654, GO:0005634, nucleotide-activated protein kinase complex, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0019901, GO:0005515, GO:0004672, protein kinase binding, protein binding, protein kinase activity, GO:1901796, GO:0120162, GO:0050790, GO:0035878, GO:0016241, GO:0016236, GO:0010628, GO:0007165, GO:0007050, GO:0006633, GO:0006468, regulation of signal transduction by p53 class mediator, positive regulation of cold-induced thermogenesis, regulation of catalytic activity, nail development, regulation of macroautophagy, macroautophagy, positive regulation of gene expression, signal transduction, cell cycle arrest, fatty acid biosynthetic process, protein phosphorylation, 172 226 281 96 176 162 135 130 113 ENSG00000111726 chr12 22046174 22065674 + CMAS protein_coding This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 55907 GO:0016020, GO:0005654, GO:0005634, membrane, nucleoplasm, nucleus, GO:0008781, N-acylneuraminate cytidylyltransferase activity, GO:0006054, N-acetylneuraminate metabolic process, 14 7 30 28 16 22 26 26 20 ENSG00000111727 chr12 104064457 104106524 + HCFC2 protein_coding This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]. 29915 GO:0071339, GO:0035097, GO:0016604, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, MLL1 complex, histone methyltransferase complex, nuclear body, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:1903508, GO:0016032, GO:0006357, GO:0006355, GO:0006338, GO:0000122, positive regulation of nucleic acid-templated transcription, viral process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin remodeling, negative regulation of transcription by RNA polymerase II, 16 37 45 43 30 58 47 25 36 ENSG00000111728 chr12 22063773 22437041 - ST8SIA1 protein_coding Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]. 6489 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008373, GO:0005515, GO:0003828, GO:0003828, sialyltransferase activity, protein binding, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, GO:0097503, GO:0034605, GO:0009311, GO:0008284, GO:0006688, GO:0006491, GO:0006486, GO:0006486, GO:0005975, sialylation, cellular response to heat, oligosaccharide metabolic process, positive regulation of cell population proliferation, glycosphingolipid biosynthetic process, N-glycan processing, protein glycosylation, protein glycosylation, carbohydrate metabolic process, 6 2 9 23 5 17 19 8 12 ENSG00000111729 chr12 8123632 8138607 + CLEC4A protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. 50856 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0030246, GO:0005537, GO:0005509, GO:0004888, carbohydrate binding, mannose binding, calcium ion binding, transmembrane signaling receptor activity, GO:0045087, GO:0042590, GO:0036037, GO:0032720, GO:0016032, GO:0007166, GO:0007155, GO:0002470, GO:0002250, GO:0002223, GO:0001818, innate immune response, antigen processing and presentation of exogenous peptide antigen via MHC class I, CD8-positive, alpha-beta T cell activation, negative regulation of tumor necrosis factor production, viral process, cell surface receptor signaling pathway, cell adhesion, plasmacytoid dendritic cell antigen processing and presentation, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, negative regulation of cytokine production, 48 38 97 4 26 4 8 16 12 ENSG00000111731 chr12 22448583 22544546 - C2CD5 protein_coding 9847 GO:0034451, GO:0032587, GO:0030659, GO:0005938, GO:0005886, GO:0005886, GO:0005829, centriolar satellite, ruffle membrane, cytoplasmic vesicle membrane, cell cortex, plasma membrane, plasma membrane, cytosol, GO:0005544, GO:0005544, GO:0005509, GO:0005509, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, calcium ion binding, calcium ion binding, GO:0090314, GO:0090314, GO:0072659, GO:0065002, GO:0065002, GO:0046326, GO:0038028, GO:0032869, GO:0031340, GO:0031340, GO:0010828, GO:0010828, GO:0006906, positive regulation of protein targeting to membrane, positive regulation of protein targeting to membrane, protein localization to plasma membrane, intracellular protein transmembrane transport, intracellular protein transmembrane transport, positive regulation of glucose import, insulin receptor signaling pathway via phosphatidylinositol 3-kinase, cellular response to insulin stimulus, positive regulation of vesicle fusion, positive regulation of vesicle fusion, positive regulation of glucose transmembrane transport, positive regulation of glucose transmembrane transport, vesicle fusion, 300 283 428 318 299 341 353 281 297 ENSG00000111732 chr12 8602166 8612871 - AICDA protein_coding This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]. 57379 GO:0032991, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0000932, protein-containing complex, cytoplasm, cytoplasm, nucleus, nucleus, P-body, GO:0047844, GO:0042802, GO:0031625, GO:0008270, GO:0005515, GO:0004126, GO:0004126, GO:0004126, GO:0003723, deoxycytidine deaminase activity, identical protein binding, ubiquitin protein ligase binding, zinc ion binding, protein binding, cytidine deaminase activity, cytidine deaminase activity, cytidine deaminase activity, RNA binding, GO:0090310, GO:0080111, GO:0080111, GO:0071222, GO:0070383, GO:0051607, GO:0045869, GO:0045190, GO:0042742, GO:0033262, GO:0030183, GO:0016554, GO:0016446, GO:0016445, GO:0010529, GO:0009972, GO:0006397, negative regulation of DNA methylation-dependent heterochromatin assembly, DNA demethylation, DNA demethylation, cellular response to lipopolysaccharide, DNA cytosine deamination, defense response to virus, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, isotype switching, defense response to bacterium, regulation of nuclear cell cycle DNA replication, B cell differentiation, cytidine to uridine editing, somatic hypermutation of immunoglobulin genes, somatic diversification of immunoglobulins, negative regulation of transposition, cytidine deamination, mRNA processing, 1 1 5 0 0 0 0 1 0 ENSG00000111737 chr12 120095095 120117502 - RAB35 protein_coding 11021 GO:0098993, GO:0070062, GO:0055038, GO:0045334, GO:0045171, GO:0042470, GO:0031253, GO:0030665, GO:0010008, GO:0010008, GO:0005905, GO:0005886, GO:0005886, GO:0005829, anchored component of synaptic vesicle membrane, extracellular exosome, recycling endosome membrane, clathrin-coated endocytic vesicle, intercellular bridge, melanosome, cell projection membrane, clathrin-coated vesicle membrane, endosome membrane, endosome membrane, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, GO:0019003, GO:0005546, GO:0005525, GO:0005515, GO:0003924, GDP binding, phosphatidylinositol-4,5-bisphosphate binding, GTP binding, protein binding, GTPase activity, GO:1990090, GO:0048227, GO:0036010, GO:0032482, GO:0032456, GO:0031175, GO:0019882, GO:0016197, GO:0015031, GO:0008104, GO:0000281, cellular response to nerve growth factor stimulus, plasma membrane to endosome transport, protein localization to endosome, Rab protein signal transduction, endocytic recycling, neuron projection development, antigen processing and presentation, endosomal transport, protein transport, protein localization, mitotic cytokinesis, 1481 1393 1836 962 1179 1042 1166 983 846 ENSG00000111752 chr12 8913896 8941467 + PHC1 protein_coding This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]. 1911 GO:0035102, GO:0035102, GO:0031519, GO:0005654, GO:0005654, GO:0005634, GO:0005634, PRC1 complex, PRC1 complex, PcG protein complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0008270, GO:0005515, GO:0003682, GO:0003677, histone binding, zinc ion binding, protein binding, chromatin binding, DNA binding, GO:0070317, GO:0045892, GO:0016574, GO:0007275, negative regulation of G0 to G1 transition, negative regulation of transcription, DNA-templated, histone ubiquitination, multicellular organism development, 108 98 141 258 204 239 216 145 241 ENSG00000111775 chr12 120438090 120440742 + COX6A1 protein_coding Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]. 1337 GO:0016021, GO:0005751, GO:0005743, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex IV, mitochondrial inner membrane, mitochondrion, GO:0030234, GO:0005515, GO:0004129, enzyme regulator activity, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0050790, GO:0006123, GO:0006123, GO:0006091, proton transmembrane transport, regulation of catalytic activity, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, generation of precursor metabolites and energy, 170 146 146 70 117 105 102 128 97 ENSG00000111780 chr12 120438198 120460006 + AL021546.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000111783 chr12 106582907 106762803 + RFX4 protein_coding This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]. 5992 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070613, GO:0060271, GO:0045944, GO:0021914, GO:0021537, GO:0006357, regulation of protein processing, cilium assembly, positive regulation of transcription by RNA polymerase II, negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning, telencephalon development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 2 0 0 ENSG00000111785 chr12 106774595 106889316 + RIC8B protein_coding 55188 GO:0005938, GO:0005886, GO:0005886, GO:0005829, GO:0005737, cell cortex, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0005096, GO:0005085, GO:0001965, GO:0001965, GTPase activator activity, guanyl-nucleotide exchange factor activity, G-protein alpha-subunit binding, G-protein alpha-subunit binding, GO:0043547, GO:0008277, GO:0007186, positive regulation of GTPase activity, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 8 12 15 42 23 71 50 16 47 ENSG00000111786 chr12 120461668 120469793 - SRSF9 protein_coding The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010]. 8683 GO:0016607, GO:0005730, GO:0005654, GO:0005654, nuclear speck, nucleolus, nucleoplasm, nucleoplasm, GO:0019904, GO:0005515, GO:0003723, GO:0003723, protein domain specific binding, protein binding, RNA binding, RNA binding, GO:0048025, GO:0045292, GO:0043279, GO:0031124, GO:0009636, GO:0006406, GO:0006405, GO:0006397, GO:0006376, GO:0000398, GO:0000381, negative regulation of mRNA splicing, via spliceosome, mRNA cis splicing, via spliceosome, response to alkaloid, mRNA 3'-end processing, response to toxic substance, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splice site selection, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 869 793 1227 548 870 875 593 752 800 ENSG00000111788 chr12 9277235 9313241 + AC009533.1 unprocessed_pseudogene 8 4 9 10 1 15 4 2 5 ENSG00000111790 chr12 26938383 26966650 + FGFR1OP2 protein_coding 26127 GO:0005829, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0042060, GO:0009611, wound healing, response to wounding, 850 714 861 454 613 464 497 476 400 ENSG00000111796 chr12 9594551 9607886 - KLRB1 protein_coding Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]. 3820 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0030246, GO:0005515, GO:0004888, carbohydrate binding, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0007166, regulation of immune response, cell surface receptor signaling pathway, 97 47 92 396 109 255 220 110 193 ENSG00000111799 chr6 75084326 75206051 - COL12A1 protein_coding This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 1303 GO:1903561, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0005788, GO:0005615, GO:0005615, GO:0005595, GO:0005576, GO:0005576, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, collagen type XII trimer, extracellular region, extracellular region, GO:0030020, GO:0030020, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, GO:0035987, GO:0035987, GO:0030199, GO:0007155, endodermal cell differentiation, endodermal cell differentiation, collagen fibril organization, cell adhesion, 0 0 1 0 0 0 0 0 0 ENSG00000111801 chr6 26440472 26453415 + BTN3A3 protein_coding The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]. 10384 GO:0016021, GO:0016020, GO:0009897, GO:0005886, GO:0005886, integral component of membrane, membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0005102, signaling receptor binding, GO:0050852, GO:0002456, GO:0001817, T cell receptor signaling pathway, T cell mediated immunity, regulation of cytokine production, 380 334 475 406 305 428 388 269 298 ENSG00000111802 chr6 24649977 24667033 - TDP2 protein_coding This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]. 51567 GO:0016605, GO:0016605, GO:0016604, GO:0016235, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, PML body, PML body, nuclear body, aggresome, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0070260, GO:0070260, GO:0070260, GO:0036317, GO:0030145, GO:0005515, GO:0004518, GO:0003714, GO:0003697, GO:0003697, GO:0000287, GO:0000287, 5'-tyrosyl-DNA phosphodiesterase activity, 5'-tyrosyl-DNA phosphodiesterase activity, 5'-tyrosyl-DNA phosphodiesterase activity, tyrosyl-RNA phosphodiesterase activity, manganese ion binding, protein binding, nuclease activity, transcription corepressor activity, single-stranded DNA binding, single-stranded DNA binding, magnesium ion binding, magnesium ion binding, GO:1903507, GO:0090305, GO:0048666, GO:0016032, GO:0007166, GO:0006302, GO:0006302, GO:0006302, negative regulation of nucleic acid-templated transcription, nucleic acid phosphodiester bond hydrolysis, neuron development, viral process, cell surface receptor signaling pathway, double-strand break repair, double-strand break repair, double-strand break repair, 3554 2625 2551 3812 3428 3159 3637 2573 2303 ENSG00000111816 chr6 115931149 116060758 - FRK protein_coding The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]. 2444 GO:0070062, GO:0035580, GO:0035578, GO:0031234, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005622, GO:0005576, extracellular exosome, specific granule lumen, azurophil granule lumen, extrinsic component of cytoplasmic side of plasma membrane, cytosol, cytosol, nucleoplasm, nucleus, intracellular anatomical structure, extracellular region, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004713, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0045087, GO:0043312, GO:0042127, GO:0038083, GO:0030154, GO:0008285, GO:0007169, GO:0006468, GO:0000122, innate immune response, neutrophil degranulation, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, cell differentiation, negative regulation of cell population proliferation, transmembrane receptor protein tyrosine kinase signaling pathway, protein phosphorylation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000111817 chr6 116254173 116444860 + DSE protein_coding The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]. 29940 GO:0016021, GO:0005829, GO:0005794, GO:0005783, GO:0005654, GO:0000139, integral component of membrane, cytosol, Golgi apparatus, endoplasmic reticulum, nucleoplasm, Golgi membrane, GO:0047757, GO:0047757, chondroitin-glucuronate 5-epimerase activity, chondroitin-glucuronate 5-epimerase activity, GO:0030208, GO:0030208, GO:0030206, GO:0030205, GO:0030204, GO:0015012, dermatan sulfate biosynthetic process, dermatan sulfate biosynthetic process, chondroitin sulfate biosynthetic process, dermatan sulfate metabolic process, chondroitin sulfate metabolic process, heparan sulfate proteoglycan biosynthetic process, 510 463 732 242 358 376 337 309 384 ENSG00000111832 chr6 116571367 116597675 + RWDD1 protein_coding 51389 GO:0005844, GO:0005737, polysome, cytoplasm, GO:0005515, protein binding, GO:2000825, GO:0071394, GO:0034599, GO:0030521, GO:0007569, GO:0002181, positive regulation of androgen receptor activity, cellular response to testosterone stimulus, cellular response to oxidative stress, androgen receptor signaling pathway, cell aging, cytoplasmic translation, 38 28 56 103 68 130 78 52 82 ENSG00000111834 chr6 116616479 116632985 + RSPH4A protein_coding This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 345895 GO:0031514, GO:0005930, GO:0005930, GO:0005930, GO:0005730, GO:0005654, GO:0001535, GO:0001534, motile cilium, axoneme, axoneme, axoneme, nucleolus, nucleoplasm, radial spoke head, radial spoke, GO:0003674, molecular_function, GO:0120221, GO:0062177, GO:0060294, GO:0035082, GO:0035082, GO:0003341, GO:0003341, maintenance of ciliary planar beating movement pattern, radial spoke assembly, cilium movement involved in cell motility, axoneme assembly, axoneme assembly, cilium movement, cilium movement, 3 0 3 6 3 10 13 7 2 ENSG00000111837 chr6 10762723 10838555 - MAK protein_coding The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 4117 GO:0072686, GO:0032391, GO:0031514, GO:0030496, GO:0005930, GO:0005929, GO:0005813, GO:0005737, GO:0005634, GO:0005634, GO:0001917, GO:0001750, mitotic spindle, photoreceptor connecting cilium, motile cilium, midbody, axoneme, cilium, centrosome, cytoplasm, nucleus, nucleus, photoreceptor inner segment, photoreceptor outer segment, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004707, GO:0004672, GO:0003713, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, MAP kinase activity, protein kinase activity, transcription coactivator activity, GO:1903508, GO:1902856, GO:0060271, GO:0046777, GO:0045494, GO:0042073, GO:0035556, GO:0030154, GO:0010468, GO:0007283, GO:0007275, GO:0006468, GO:0000165, positive regulation of nucleic acid-templated transcription, negative regulation of non-motile cilium assembly, cilium assembly, protein autophosphorylation, photoreceptor cell maintenance, intraciliary transport, intracellular signal transduction, cell differentiation, regulation of gene expression, spermatogenesis, multicellular organism development, protein phosphorylation, MAPK cascade, 426 286 423 309 358 290 376 237 326 ENSG00000111843 chr6 10722915 10731129 + TMEM14C protein_coding 51522 GO:0031966, GO:0016021, GO:0005743, mitochondrial membrane, integral component of membrane, mitochondrial inner membrane, GO:0005515, protein binding, GO:0070453, GO:0030218, GO:0006839, GO:0006783, regulation of heme biosynthetic process, erythrocyte differentiation, mitochondrial transport, heme biosynthetic process, 19 31 42 48 39 48 7 36 13 ENSG00000111845 chr6 10694695 10709782 + PAK1IP1 protein_coding 55003 GO:0005730, nucleolus, GO:0005515, protein binding, GO:1901796, GO:0060021, GO:0042273, GO:0009968, GO:0008283, regulation of signal transduction by p53 class mediator, roof of mouth development, ribosomal large subunit biogenesis, negative regulation of signal transduction, cell population proliferation, 10 2 14 52 16 13 19 14 9 ENSG00000111846 chr6 10492223 10629368 + GCNT2 protein_coding This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 2651 GO:0016021, GO:0016020, GO:0005794, GO:0000139, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, GO:0008109, N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity, GO:0070374, GO:0051897, GO:0036438, GO:0034116, GO:0030335, GO:0010812, GO:0010718, GO:0010608, GO:0008284, GO:0007275, GO:0007179, GO:0006486, GO:0006486, GO:0006024, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, maintenance of lens transparency, positive regulation of heterotypic cell-cell adhesion, positive regulation of cell migration, negative regulation of cell-substrate adhesion, positive regulation of epithelial to mesenchymal transition, posttranscriptional regulation of gene expression, positive regulation of cell population proliferation, multicellular organism development, transforming growth factor beta receptor signaling pathway, protein glycosylation, protein glycosylation, glycosaminoglycan biosynthetic process, 1 8 7 1 3 20 1 6 0 ENSG00000111850 chr6 87322583 87399749 + SMIM8 protein_coding 57150 GO:0016021, integral component of membrane, 91 76 79 77 86 100 99 53 60 ENSG00000111859 chr6 11183298 11382348 - NEDD9 protein_coding The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 4739 GO:0030027, GO:0005938, GO:0005925, GO:0005886, GO:0005829, GO:0005819, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0000922, lamellipodium, cell cortex, focal adhesion, plasma membrane, cytosol, spindle, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, spindle pole, GO:1990782, GO:0005515, protein tyrosine kinase binding, protein binding, GO:1900026, GO:0090630, GO:0090527, GO:0061098, GO:0051301, GO:0051017, GO:0040008, GO:0030335, GO:0016477, GO:0007229, GO:0007169, GO:0007165, GO:0007155, GO:0007049, GO:0007010, positive regulation of substrate adhesion-dependent cell spreading, activation of GTPase activity, actin filament reorganization, positive regulation of protein tyrosine kinase activity, cell division, actin filament bundle assembly, regulation of growth, positive regulation of cell migration, cell migration, integrin-mediated signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, cell adhesion, cell cycle, cytoskeleton organization, 2853 3498 4025 1672 2919 2720 1859 2110 2273 ENSG00000111860 chr6 118460772 118710075 - CEP85L protein_coding The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 387119 GO:0005813, GO:0005813, GO:0005737, centrosome, centrosome, cytoplasm, 328 536 515 396 597 515 453 388 431 ENSG00000111863 chr6 11712054 11807046 - ADTRP protein_coding 84830 GO:0016021, GO:0016020, GO:0009986, GO:0005901, integral component of membrane, membrane, cell surface, caveola, GO:0016787, GO:0005515, hydrolase activity, protein binding, GO:2000402, GO:1903038, GO:0140052, GO:0071383, GO:0050709, GO:0043491, GO:0042758, GO:0030195, GO:0010628, GO:0003332, GO:0002686, GO:0002042, GO:0001934, negative regulation of lymphocyte migration, negative regulation of leukocyte cell-cell adhesion, cellular response to oxidised low-density lipoprotein particle stimulus, cellular response to steroid hormone stimulus, negative regulation of protein secretion, protein kinase B signaling, long-chain fatty acid catabolic process, negative regulation of blood coagulation, positive regulation of gene expression, negative regulation of extracellular matrix constituent secretion, negative regulation of leukocyte migration, cell migration involved in sprouting angiogenesis, positive regulation of protein phosphorylation, 1 6 7 23 7 21 11 4 12 ENSG00000111875 chr6 118894220 118909167 + ASF1A protein_coding This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]. 25842 GO:0032991, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0042393, GO:0042393, GO:0005515, GO:0003682, histone binding, histone binding, protein binding, chromatin binding, GO:0042692, GO:0031936, GO:0006336, GO:0006336, GO:0006335, GO:0006335, GO:0006334, GO:0006281, GO:0001649, muscle cell differentiation, negative regulation of chromatin silencing, DNA replication-independent nucleosome assembly, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, DNA repair, osteoblast differentiation, 41 30 72 79 26 104 72 23 31 ENSG00000111877 chr6 118813442 118935162 - MCM9 protein_coding The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]. 254394 GO:0097362, GO:0042555, GO:0005694, GO:0005634, GO:0005634, MCM8-MCM9 complex, MCM complex, chromosome, nucleus, nucleus, GO:0044877, GO:0032408, GO:0032407, GO:0032406, GO:0019899, GO:0005524, GO:0005515, GO:0003697, GO:0003688, GO:0003682, GO:0003678, protein-containing complex binding, MutSbeta complex binding, MutSalpha complex binding, MutLbeta complex binding, enzyme binding, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, chromatin binding, DNA helicase activity, GO:0071168, GO:0070716, GO:0036298, GO:0032508, GO:0007292, GO:0006974, GO:0006260, GO:0000724, GO:0000724, GO:0000724, protein localization to chromatin, mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication, recombinational interstrand cross-link repair, DNA duplex unwinding, female gamete generation, cellular response to DNA damage stimulus, DNA replication, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 238 214 204 168 209 233 178 149 185 ENSG00000111879 chr6 118959763 119149387 - FAM184A protein_coding 79632 GO:0005615, extracellular space, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 5 0 0 20 7 7 10 0 5 ENSG00000111880 chr6 88610272 88963721 - RNGTT protein_coding 8732 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0050355, GO:0008192, GO:0008138, GO:0005525, GO:0005515, GO:0004725, GO:0004651, GO:0004484, GO:0004484, triphosphatase activity, RNA guanylyltransferase activity, protein tyrosine/serine/threonine phosphatase activity, GTP binding, protein binding, protein tyrosine phosphatase activity, polynucleotide 5'-phosphatase activity, mRNA guanylyltransferase activity, mRNA guanylyltransferase activity, GO:0098507, GO:0035335, GO:0016032, GO:0006396, GO:0006370, GO:0006370, GO:0006370, GO:0006366, polynucleotide 5' dephosphorylation, peptidyl-tyrosine dephosphorylation, viral process, RNA processing, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, transcription by RNA polymerase II, 253 184 234 169 158 171 160 101 143 ENSG00000111885 chr6 119177209 119349761 - MAN1A1 protein_coding This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]. 4121 GO:0070062, GO:0031410, GO:0016021, GO:0016020, GO:0005829, GO:0005794, GO:0005793, GO:0005783, GO:0000139, GO:0000139, extracellular exosome, cytoplasmic vesicle, integral component of membrane, membrane, cytosol, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0015923, GO:0005509, GO:0004571, GO:0004571, mannosidase activity, calcium ion binding, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, GO:1904382, GO:1904381, GO:0045047, GO:0030433, GO:0006491, GO:0006486, GO:0005975, mannose trimming involved in glycoprotein ERAD pathway, Golgi apparatus mannose trimming, protein targeting to ER, ubiquitin-dependent ERAD pathway, N-glycan processing, protein glycosylation, carbohydrate metabolic process, 5010 2757 2635 1215 1268 1216 1686 1138 964 ENSG00000111886 chr6 89257208 89315299 - GABRR2 protein_coding Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]. 2570 GO:1902711, GO:0098982, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0005887, GO:0005886, GABA-A receptor complex, GABA-ergic synapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0030594, GO:0019904, GO:0005254, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, protein domain specific binding, chloride channel activity, GABA-A receptor activity, GO:1902476, GO:0060078, GO:0050877, GO:0042391, GO:0034220, GO:0007601, GO:0007268, GO:0007214, GO:0007165, chloride transmembrane transport, regulation of postsynaptic membrane potential, nervous system process, regulation of membrane potential, ion transmembrane transport, visual perception, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 17 20 42 27 20 38 27 25 45 ENSG00000111897 chr6 122443354 122471822 - SERINC1 protein_coding 57515 GO:0016021, GO:0016020, GO:0005886, GO:0005789, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, GO:0030674, GO:0019899, GO:0005515, protein-macromolecule adaptor activity, enzyme binding, protein binding, GO:1904222, GO:1904219, GO:0044091, GO:0008654, GO:0006665, GO:0006658, positive regulation of serine C-palmitoyltransferase activity, positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity, membrane biogenesis, phospholipid biosynthetic process, sphingolipid metabolic process, phosphatidylserine metabolic process, 6673 6109 7811 2042 3023 2728 2489 2709 2309 ENSG00000111906 chr6 125219962 125302078 - HDDC2 protein_coding 51020 GO:0005737, cytoplasm, GO:0046872, GO:0005515, GO:0002953, metal ion binding, protein binding, 5'-deoxynucleotidase activity, GO:0016311, dephosphorylation, 4 10 16 29 20 34 24 23 27 ENSG00000111907 chr6 125119049 125264407 + TPD52L1 protein_coding This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]. 7164 GO:0048471, GO:0005737, perinuclear region of cytoplasm, cytoplasm, GO:0042803, GO:0042802, GO:0005515, protein homodimerization activity, identical protein binding, protein binding, GO:2001235, GO:0046330, GO:0043406, GO:0000086, positive regulation of apoptotic signaling pathway, positive regulation of JNK cascade, positive regulation of MAP kinase activity, G2/M transition of mitotic cell cycle, 0 0 1 0 0 0 0 0 4 ENSG00000111911 chr6 125956781 125980244 + HINT3 protein_coding Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]. 135114 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0043530, GO:0042802, GO:0000166, adenosine 5'-monophosphoramidase activity, identical protein binding, nucleotide binding, 248 253 299 114 187 243 157 210 204 ENSG00000111912 chr6 125781161 125932030 + NCOA7 protein_coding 135112 GO:0005634, nucleus, GO:0035257, GO:0030374, GO:0030374, GO:0005515, nuclear hormone receptor binding, nuclear receptor coactivator activity, nuclear receptor coactivator activity, protein binding, GO:1903204, GO:1902083, GO:0045944, GO:0006979, negative regulation of oxidative stress-induced neuron death, negative regulation of peptidyl-cysteine S-nitrosylation, positive regulation of transcription by RNA polymerase II, response to oxidative stress, 115 108 145 169 94 178 172 87 116 ENSG00000111913 chr6 24804281 25042170 - RIPOR2 protein_coding This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]. 9750 GO:0060171, GO:0032420, GO:0030175, GO:0016324, GO:0005856, GO:0005737, stereocilium membrane, stereocilium, filopodium, apical plasma membrane, cytoskeleton, cytoplasm, GO:0071889, GO:0042802, GO:0005515, 14-3-3 protein binding, identical protein binding, protein binding, GO:2001107, GO:2001107, GO:2000405, GO:2000391, GO:2000114, GO:1990869, GO:1905872, GO:1903904, GO:1901741, GO:0090023, GO:0071260, GO:0060088, GO:0051491, GO:0051260, GO:0048741, GO:0045663, GO:0045184, GO:0035024, GO:0035024, GO:0007605, GO:0007162, GO:0007162, GO:0007155, GO:0006935, negative regulation of Rho guanyl-nucleotide exchange factor activity, negative regulation of Rho guanyl-nucleotide exchange factor activity, negative regulation of T cell migration, positive regulation of neutrophil extravasation, regulation of establishment of cell polarity, cellular response to chemokine, negative regulation of protein localization to cell leading edge, negative regulation of establishment of T cell polarity, positive regulation of myoblast fusion, positive regulation of neutrophil chemotaxis, cellular response to mechanical stimulus, auditory receptor cell stereocilium organization, positive regulation of filopodium assembly, protein homooligomerization, skeletal muscle fiber development, positive regulation of myoblast differentiation, establishment of protein localization, negative regulation of Rho protein signal transduction, negative regulation of Rho protein signal transduction, sensory perception of sound, negative regulation of cell adhesion, negative regulation of cell adhesion, cell adhesion, chemotaxis, 10253 9967 12912 7251 11729 9826 8149 9001 8755 ENSG00000111961 chr6 148272304 148552050 + SASH1 protein_coding This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]. 23328 GO:0032991, GO:0005737, protein-containing complex, cytoplasm, GO:0060090, GO:0031435, GO:0031435, GO:0019901, GO:0008022, GO:0005515, GO:0001965, molecular adaptor activity, mitogen-activated protein kinase kinase kinase binding, mitogen-activated protein kinase kinase kinase binding, protein kinase binding, protein C-terminus binding, protein binding, G-protein alpha-subunit binding, GO:1902498, GO:1901224, GO:1901224, GO:1900745, GO:1900044, GO:0045766, GO:0043507, GO:0043507, GO:0031666, GO:0010632, GO:0010595, GO:0000209, regulation of protein autoubiquitination, positive regulation of NIK/NF-kappaB signaling, positive regulation of NIK/NF-kappaB signaling, positive regulation of p38MAPK cascade, regulation of protein K63-linked ubiquitination, positive regulation of angiogenesis, positive regulation of JUN kinase activity, positive regulation of JUN kinase activity, positive regulation of lipopolysaccharide-mediated signaling pathway, regulation of epithelial cell migration, positive regulation of endothelial cell migration, protein polyubiquitination, 1 5 5 0 1 2 1 2 0 ENSG00000111962 chr6 148747328 149076990 + UST protein_coding Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008]. 10090 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008146, GO:0008146, sulfotransferase activity, sulfotransferase activity, GO:0050770, GO:0030208, GO:0030010, GO:0006477, regulation of axonogenesis, dermatan sulfate biosynthetic process, establishment of cell polarity, protein sulfation, 6 1 16 21 8 17 19 7 13 ENSG00000111981 chr6 149964007 149973710 + ULBP1 protein_coding The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 80329 GO:0046658, GO:0009897, GO:0005886, GO:0005886, GO:0005829, GO:0005783, GO:0005615, anchored component of plasma membrane, external side of plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, extracellular space, GO:0046703, GO:0005515, natural killer cell lectin-like receptor binding, protein binding, GO:0050776, GO:0042267, GO:0030101, GO:0016032, GO:0006955, regulation of immune response, natural killer cell mediated cytotoxicity, natural killer cell activation, viral process, immune response, 2 1 1 7 11 12 10 3 1 ENSG00000112029 chr6 152970519 152983579 - FBXO5 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]. 26271 GO:0072687, GO:0005829, GO:0005819, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, meiotic spindle, cytosol, spindle, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990948, GO:0046872, GO:0019901, GO:0010997, GO:0005515, ubiquitin ligase inhibitor activity, metal ion binding, protein kinase binding, anaphase-promoting complex binding, protein binding, GO:2001021, GO:2000773, GO:1905322, GO:1904667, GO:1904667, GO:1901990, GO:0070169, GO:0051444, GO:0051301, GO:0046785, GO:0045841, GO:0045835, GO:0045669, GO:0032876, GO:0031145, GO:0016567, GO:0016050, GO:0010971, GO:0008284, GO:0007346, GO:0007088, GO:0007057, GO:0006275, GO:0001556, GO:0000083, negative regulation of response to DNA damage stimulus, negative regulation of cellular senescence, positive regulation of mesenchymal stem cell migration, negative regulation of ubiquitin protein ligase activity, negative regulation of ubiquitin protein ligase activity, regulation of mitotic cell cycle phase transition, positive regulation of biomineral tissue development, negative regulation of ubiquitin-protein transferase activity, cell division, microtubule polymerization, negative regulation of mitotic metaphase/anaphase transition, negative regulation of meiotic nuclear division, positive regulation of osteoblast differentiation, negative regulation of DNA endoreduplication, anaphase-promoting complex-dependent catabolic process, protein ubiquitination, vesicle organization, positive regulation of G2/M transition of mitotic cell cycle, positive regulation of cell population proliferation, regulation of mitotic cell cycle, regulation of mitotic nuclear division, spindle assembly involved in female meiosis I, regulation of DNA replication, oocyte maturation, regulation of transcription involved in G1/S transition of mitotic cell cycle, 11 3 2 6 14 7 11 3 3 ENSG00000112031 chr6 152987362 153002685 - MTRF1L protein_coding The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 54516 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0003747, translation release factor activity, GO:0070126, GO:0070126, mitochondrial translational termination, mitochondrial translational termination, 114 87 126 49 68 68 77 75 73 ENSG00000112033 chr6 35342558 35428191 + PPARD protein_coding This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. The encoded protein is thought to function as an integrator of transcriptional repression and nuclear receptor signaling. It may inhibit the ligand-induced transcriptional activity of peroxisome proliferator activated receptors alpha and gamma, though evidence for this effect is inconsistent. Expression of this gene in colorectal cancer cells may be variable but is typically relatively low. Knockout studies in mice suggested a role for this protein in myelination of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2017]. 5467 GO:0005654, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0070539, GO:0051059, GO:0008289, GO:0008270, GO:0008144, GO:0008134, GO:0005515, GO:0004879, GO:0004879, GO:0003713, GO:0003707, GO:0003700, GO:0003700, GO:0003677, GO:0001227, GO:0001227, GO:0001223, GO:0001103, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, linoleic acid binding, NF-kappaB binding, lipid binding, zinc ion binding, drug binding, transcription factor binding, protein binding, nuclear receptor activity, nuclear receptor activity, transcription coactivator activity, steroid hormone receptor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription coactivator binding, RNA polymerase II repressing transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000288, GO:1904659, GO:1902894, GO:0097755, GO:0097190, GO:0071456, GO:0071222, GO:0060612, GO:0051546, GO:0050728, GO:0050680, GO:0048662, GO:0046697, GO:0045944, GO:0045923, GO:0045893, GO:0045892, GO:0045684, GO:0045662, GO:0045600, GO:0043616, GO:0043415, GO:0043401, GO:0043066, GO:0042060, GO:0033993, GO:0033189, GO:0032966, GO:0032024, GO:0031589, GO:0030522, GO:0030308, GO:0030154, GO:0019216, GO:0015908, GO:0014912, GO:0014842, GO:0014823, GO:0014068, GO:0010887, GO:0009755, GO:0009749, GO:0009299, GO:0009062, GO:0008654, GO:0008366, GO:0008283, GO:0008203, GO:0007566, GO:0007507, GO:0006915, GO:0006776, GO:0006635, GO:0006635, GO:0006631, GO:0006629, GO:0006367, GO:0006357, GO:0006091, GO:0006029, GO:0006006, GO:0000122, GO:0000122, positive regulation of myoblast proliferation, glucose transmembrane transport, negative regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of blood vessel diameter, apoptotic signaling pathway, cellular response to hypoxia, cellular response to lipopolysaccharide, adipose tissue development, keratinocyte migration, negative regulation of inflammatory response, negative regulation of epithelial cell proliferation, negative regulation of smooth muscle cell proliferation, decidualization, positive regulation of transcription by RNA polymerase II, positive regulation of fatty acid metabolic process, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of epidermis development, negative regulation of myoblast differentiation, positive regulation of fat cell differentiation, keratinocyte proliferation, positive regulation of skeletal muscle tissue regeneration, steroid hormone mediated signaling pathway, negative regulation of apoptotic process, wound healing, response to lipid, response to vitamin A, negative regulation of collagen biosynthetic process, positive regulation of insulin secretion, cell-substrate adhesion, intracellular receptor signaling pathway, negative regulation of cell growth, cell differentiation, regulation of lipid metabolic process, fatty acid transport, negative regulation of smooth muscle cell migration, regulation of skeletal muscle satellite cell proliferation, response to activity, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cholesterol storage, hormone-mediated signaling pathway, response to glucose, mRNA transcription, fatty acid catabolic process, phospholipid biosynthetic process, axon ensheathment, cell population proliferation, cholesterol metabolic process, embryo implantation, heart development, apoptotic process, vitamin A metabolic process, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid metabolic process, lipid metabolic process, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, generation of precursor metabolites and energy, proteoglycan metabolic process, glucose metabolic process, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 418 344 658 263 310 334 304 189 231 ENSG00000112038 chr6 154010496 154246867 + OPRM1 protein_coding This gene encodes one of at least three opioid receptors in humans; the mu opioid receptor (MOR). The MOR is the principal target of endogenous opioid peptides and opioid analgesic agents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drugs of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having a causal role is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanning G-protein-coupled receptors some isoforms of this gene have only 6 transmembrane domains. [provided by RefSeq, Oct 2013]. 4988 GO:0099056, GO:0099055, GO:0045121, GO:0043204, GO:0043005, GO:0042383, GO:0032839, GO:0032590, GO:0030425, GO:0030424, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005768, integral component of presynaptic membrane, integral component of postsynaptic membrane, membrane raft, perikaryon, neuron projection, sarcolemma, dendrite cytoplasm, dendrite membrane, dendrite, axon, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, endosome, GO:0042923, GO:0042277, GO:0038047, GO:0038047, GO:0031681, GO:0031005, GO:0019904, GO:0008022, GO:0005515, GO:0005245, GO:0004979, GO:0004979, GO:0004930, GO:0004930, GO:0001965, GO:0001965, neuropeptide binding, peptide binding, morphine receptor activity, morphine receptor activity, G-protein beta-subunit binding, filamin binding, protein domain specific binding, protein C-terminus binding, protein binding, voltage-gated calcium channel activity, beta-endorphin receptor activity, beta-endorphin receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, G-protein alpha-subunit binding, G-protein alpha-subunit binding, GO:2000310, GO:0106072, GO:0080135, GO:0071315, GO:0070848, GO:0070588, GO:0070374, GO:0061358, GO:0060079, GO:0051930, GO:0050769, GO:0048149, GO:0044849, GO:0042755, GO:0042220, GO:0042060, GO:0038003, GO:0038003, GO:0032496, GO:0032100, GO:0032094, GO:0031635, GO:0019233, GO:0019233, GO:0019221, GO:0009314, GO:0008285, GO:0007626, GO:0007600, GO:0007218, GO:0007200, GO:0007197, GO:0007191, GO:0007187, GO:0007186, GO:0002438, regulation of NMDA receptor activity, negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, regulation of cellular response to stress, cellular response to morphine, response to growth factor, calcium ion transmembrane transport, positive regulation of ERK1 and ERK2 cascade, negative regulation of Wnt protein secretion, excitatory postsynaptic potential, regulation of sensory perception of pain, positive regulation of neurogenesis, behavioral response to ethanol, estrous cycle, eating behavior, response to cocaine, wound healing, opioid receptor signaling pathway, opioid receptor signaling pathway, response to lipopolysaccharide, positive regulation of appetite, response to food, adenylate cyclase-inhibiting opioid receptor signaling pathway, sensory perception of pain, sensory perception of pain, cytokine-mediated signaling pathway, response to radiation, negative regulation of cell population proliferation, locomotory behavior, sensory perception, neuropeptide signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway, adenylate cyclase-activating dopamine receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, acute inflammatory response to antigenic stimulus, 24 36 36 11 34 23 25 26 17 ENSG00000112039 chr6 35452356 35467103 + FANCE protein_coding The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]. 2178 GO:0043240, GO:0043240, GO:0005654, GO:0005634, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, nucleoplasm, nucleus, GO:0003674, molecular_function, GO:0036297, interstrand cross-link repair, 1 3 8 21 7 27 25 12 19 ENSG00000112041 chr6 35497874 35512938 - TULP1 protein_coding This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]. 7287 GO:0045202, GO:0042995, GO:0005929, GO:0005886, GO:0005737, GO:0005576, GO:0001917, GO:0001750, synapse, cell projection, cilium, plasma membrane, cytoplasm, extracellular region, photoreceptor inner segment, photoreceptor outer segment, GO:0051015, GO:0051015, GO:0005546, GO:0005515, actin filament binding, actin filament binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0061512, GO:0050908, GO:0050766, GO:0045494, GO:0042462, GO:0016358, GO:0007601, GO:0006909, GO:0001895, protein localization to cilium, detection of light stimulus involved in visual perception, positive regulation of phagocytosis, photoreceptor cell maintenance, eye photoreceptor cell development, dendrite development, visual perception, phagocytosis, retina homeostasis, 0 0 0 0 0 4 0 0 0 ENSG00000112053 chr6 35943514 36024868 - SLC26A8 protein_coding This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]. 116369 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0019531, GO:0019531, GO:0015301, GO:0015116, GO:0015116, GO:0015108, GO:0015106, GO:0008271, GO:0005515, GO:0005254, oxalate transmembrane transporter activity, oxalate transmembrane transporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, protein binding, chloride channel activity, GO:1902476, GO:1902358, GO:0051321, GO:0048240, GO:0030317, GO:0019532, GO:0015701, GO:0008272, GO:0007275, GO:0006821, GO:0006820, chloride transmembrane transport, sulfate transmembrane transport, meiotic cell cycle, sperm capacitation, flagellated sperm motility, oxalate transport, bicarbonate transport, sulfate transport, multicellular organism development, chloride transport, anion transport, 122 110 204 143 162 290 168 123 213 ENSG00000112062 chr6 36027677 36111236 + MAPK14 protein_coding The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 1432 GO:1904813, GO:0034774, GO:0016607, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000922, ficolin-1-rich granule lumen, secretory granule lumen, nuclear speck, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular region, spindle pole, GO:0051525, GO:0048273, GO:0019903, GO:0019899, GO:0005524, GO:0005515, GO:0004708, GO:0004707, GO:0004707, GO:0004674, NFAT protein binding, mitogen-activated protein kinase p38 binding, protein phosphatase binding, enzyme binding, ATP binding, protein binding, MAP kinase kinase activity, MAP kinase activity, MAP kinase activity, protein serine/threonine kinase activity, GO:2000379, GO:1905050, GO:1901796, GO:1901741, GO:1900015, GO:0098586, GO:0090400, GO:0090336, GO:0090090, GO:0071479, GO:0071356, GO:0071223, GO:0071222, GO:0070935, GO:0060045, GO:0051149, GO:0051146, GO:0051090, GO:0048010, GO:0048010, GO:0046326, GO:0045944, GO:0045663, GO:0045648, GO:0043536, GO:0043312, GO:0042770, GO:0042307, GO:0038066, GO:0035994, GO:0035924, GO:0035556, GO:0035556, GO:0035331, GO:0032735, GO:0032495, GO:0031663, GO:0031281, GO:0030316, GO:0030278, GO:0019395, GO:0018105, GO:0010831, GO:0010759, GO:0010628, GO:0010628, GO:0010468, GO:0007519, GO:0007265, GO:0007178, GO:0007166, GO:0007165, GO:0006935, GO:0006915, GO:0006357, GO:0006006, GO:0002720, GO:0002062, GO:0001890, GO:0001525, GO:0001502, GO:0000902, GO:0000187, GO:0000077, positive regulation of reactive oxygen species metabolic process, positive regulation of metallopeptidase activity, regulation of signal transduction by p53 class mediator, positive regulation of myoblast fusion, regulation of cytokine production involved in inflammatory response, cellular response to virus, stress-induced premature senescence, positive regulation of brown fat cell differentiation, negative regulation of canonical Wnt signaling pathway, cellular response to ionizing radiation, cellular response to tumor necrosis factor, cellular response to lipoteichoic acid, cellular response to lipopolysaccharide, 3'-UTR-mediated mRNA stabilization, positive regulation of cardiac muscle cell proliferation, positive regulation of muscle cell differentiation, striated muscle cell differentiation, regulation of DNA-binding transcription factor activity, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of glucose import, positive regulation of transcription by RNA polymerase II, positive regulation of myoblast differentiation, positive regulation of erythrocyte differentiation, positive regulation of blood vessel endothelial cell migration, neutrophil degranulation, signal transduction in response to DNA damage, positive regulation of protein import into nucleus, p38MAPK cascade, response to muscle stretch, cellular response to vascular endothelial growth factor stimulus, intracellular signal transduction, intracellular signal transduction, negative regulation of hippo signaling, positive regulation of interleukin-12 production, response to muramyl dipeptide, lipopolysaccharide-mediated signaling pathway, positive regulation of cyclase activity, osteoclast differentiation, regulation of ossification, fatty acid oxidation, peptidyl-serine phosphorylation, positive regulation of myotube differentiation, positive regulation of macrophage chemotaxis, positive regulation of gene expression, positive regulation of gene expression, regulation of gene expression, skeletal muscle tissue development, Ras protein signal transduction, transmembrane receptor protein serine/threonine kinase signaling pathway, cell surface receptor signaling pathway, signal transduction, chemotaxis, apoptotic process, regulation of transcription by RNA polymerase II, glucose metabolic process, positive regulation of cytokine production involved in immune response, chondrocyte differentiation, placenta development, angiogenesis, cartilage condensation, cell morphogenesis, activation of MAPK activity, DNA damage checkpoint, 2192 2101 3144 1815 2329 2775 2163 1784 2529 ENSG00000112077 chr6 49605158 49636884 - RHAG protein_coding The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]. 6005 GO:0016020, GO:0005887, GO:0005886, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0035379, GO:0030506, GO:0022840, GO:0008519, GO:0008519, GO:0008519, GO:0008519, GO:0005515, carbon dioxide transmembrane transporter activity, ankyrin binding, leak channel activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, protein binding, GO:0072488, GO:0072488, GO:0060586, GO:0048821, GO:0035378, GO:0015701, GO:0015696, GO:0015696, GO:0015672, GO:0015670, GO:0006873, ammonium transmembrane transport, ammonium transmembrane transport, multicellular organismal iron ion homeostasis, erythrocyte development, carbon dioxide transmembrane transport, bicarbonate transport, ammonium transport, ammonium transport, monovalent inorganic cation transport, carbon dioxide transport, cellular ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000112078 chr6 36442767 36491143 + KCTD20 protein_coding 222658 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0042802, identical protein binding, GO:0042327, GO:0042327, positive regulation of phosphorylation, positive regulation of phosphorylation, 1274 1470 1807 401 704 632 469 591 474 ENSG00000112079 chr6 36493892 36547470 - STK38 protein_coding This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 11329 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0045296, GO:0031435, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, cadherin binding, mitogen-activated protein kinase kinase kinase binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0043407, GO:0035556, GO:0035556, GO:0018105, GO:0006468, GO:0006464, negative regulation of MAP kinase activity, intracellular signal transduction, intracellular signal transduction, peptidyl-serine phosphorylation, protein phosphorylation, cellular protein modification process, 1659 1339 2092 1737 1589 2090 1760 1122 1662 ENSG00000112081 chr6 36594353 36605600 + SRSF3 protein_coding The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]. 6428 GO:0016607, GO:0016607, GO:0005737, GO:0005654, nuclear speck, nuclear speck, cytoplasm, nucleoplasm, GO:1990825, GO:0043274, GO:0005515, GO:0003723, GO:0003723, GO:0003723, sequence-specific mRNA binding, phospholipase binding, protein binding, RNA binding, RNA binding, RNA binding, GO:1990830, GO:0048024, GO:0045292, GO:0031124, GO:0006406, GO:0006406, GO:0006405, GO:0000398, GO:0000381, cellular response to leukemia inhibitory factor, regulation of mRNA splicing, via spliceosome, mRNA cis splicing, via spliceosome, mRNA 3'-end processing, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 1115 1374 1386 21461 32348 22761 16025 14698 13972 ENSG00000112096 chr6 159669057 159745186 - SOD2 protein_coding This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]. 6648 GO:0070062, GO:0042645, GO:0005759, GO:0005759, GO:0005739, GO:0005739, extracellular exosome, mitochondrial nucleoid, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, GO:0042802, GO:0030145, GO:0030145, GO:0030145, GO:0019899, GO:0019825, GO:0005515, GO:0004784, GO:0004784, GO:0003677, identical protein binding, manganese ion binding, manganese ion binding, manganese ion binding, enzyme binding, oxygen binding, protein binding, superoxide dismutase activity, superoxide dismutase activity, DNA binding, GO:1905932, GO:1905461, GO:1904706, GO:1902176, GO:0071361, GO:0071000, GO:0055093, GO:0055072, GO:0051881, GO:0051602, GO:0051289, GO:0050790, GO:0050665, GO:0048773, GO:0048678, GO:0048666, GO:0048147, GO:0046686, GO:0045599, GO:0045429, GO:0043524, GO:0042554, GO:0042542, GO:0042493, GO:0035902, GO:0035900, GO:0035722, GO:0034599, GO:0034021, GO:0033591, GO:0032496, GO:0032364, GO:0030335, GO:0030097, GO:0022904, GO:0019430, GO:0014823, GO:0010332, GO:0010269, GO:0010043, GO:0010042, GO:0009791, GO:0009409, GO:0008631, GO:0008630, GO:0008285, GO:0008217, GO:0007626, GO:0007507, GO:0006801, GO:0006749, GO:0006357, GO:0003069, GO:0003032, GO:0001889, GO:0001836, GO:0001666, GO:0001315, GO:0000303, positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching, positive regulation of vascular associated smooth muscle cell apoptotic process, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, cellular response to ethanol, response to magnetism, response to hyperoxia, iron ion homeostasis, regulation of mitochondrial membrane potential, response to electrical stimulus, protein homotetramerization, regulation of catalytic activity, hydrogen peroxide biosynthetic process, erythrophore differentiation, response to axon injury, neuron development, negative regulation of fibroblast proliferation, response to cadmium ion, negative regulation of fat cell differentiation, positive regulation of nitric oxide biosynthetic process, negative regulation of neuron apoptotic process, superoxide anion generation, response to hydrogen peroxide, response to drug, response to immobilization stress, response to isolation stress, interleukin-12-mediated signaling pathway, cellular response to oxidative stress, response to silicon dioxide, response to L-ascorbic acid, response to lipopolysaccharide, oxygen homeostasis, positive regulation of cell migration, hemopoiesis, respiratory electron transport chain, removal of superoxide radicals, response to activity, response to gamma radiation, response to selenium ion, response to zinc ion, response to manganese ion, post-embryonic development, response to cold, intrinsic apoptotic signaling pathway in response to oxidative stress, intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of cell population proliferation, regulation of blood pressure, locomotory behavior, heart development, superoxide metabolic process, glutathione metabolic process, regulation of transcription by RNA polymerase II, acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure, detection of oxygen, liver development, release of cytochrome c from mitochondria, response to hypoxia, age-dependent response to reactive oxygen species, response to superoxide, 36904 38009 67103 10903 29807 44362 21238 31290 45495 ENSG00000112110 chr6 159789812 159798436 + MRPL18 protein_coding This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016]. 29074 GO:0005762, GO:0005761, GO:0005743, GO:0005739, GO:0005739, GO:0005615, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, extracellular space, GO:0008097, GO:0008097, GO:0005515, GO:0003735, 5S rRNA binding, 5S rRNA binding, protein binding, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0035928, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, rRNA import into mitochondrion, translation, 89 103 102 181 295 116 155 113 54 ENSG00000112115 chr6 52186375 52190638 + IL17A protein_coding This gene is a member of the IL-17 receptor family which includes five members (IL-17RA-E) and the encoded protein is a proinflammatory cytokine produced by activated T cells. IL-17A-mediated downstream pathways induce the production of inflammatory molecules, chemokines, antimicrobial peptides, and remodeling proteins. The encoded protein elicits crucial impacts on host defense, cell trafficking, immune modulation, and tissue repair, with a key role in the induction of innate immune defenses. This cytokine stimulates non-hematopoietic cells and promotes chemokine production thereby attracting myeloid cells to inflammatory sites. This cytokine also regulates the activities of NF-kappaB and mitogen-activated protein kinases and can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). IL-17A plays a pivotal role in various infectious diseases, inflammatory and autoimmune disorders, and cancer. High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. The lung damage induced by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the inflammatory response promoted by cytokines such as IL17A. [provided by RefSeq, Sep 2020]. 3605 GO:0009897, GO:0005615, GO:0005576, external side of plasma membrane, extracellular space, extracellular region, GO:0042803, GO:0005515, GO:0005125, protein homodimerization activity, protein binding, cytokine activity, GO:2000340, GO:1903348, GO:1900017, GO:0097530, GO:0097400, GO:0097400, GO:0072537, GO:0071347, GO:0060729, GO:0050832, GO:0050830, GO:0050829, GO:0045944, GO:0045672, GO:0045087, GO:0032760, GO:0032755, GO:0032747, GO:0032739, GO:0032735, GO:0032731, GO:0019221, GO:0008219, GO:0007267, GO:0006955, GO:0006954, GO:0006915, GO:0002250, GO:0002225, positive regulation of chemokine (C-X-C motif) ligand 1 production, positive regulation of bicellular tight junction assembly, positive regulation of cytokine production involved in inflammatory response, granulocyte migration, interleukin-17-mediated signaling pathway, interleukin-17-mediated signaling pathway, fibroblast activation, cellular response to interleukin-1, intestinal epithelial structure maintenance, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, positive regulation of transcription by RNA polymerase II, positive regulation of osteoclast differentiation, innate immune response, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-23 production, positive regulation of interleukin-16 production, positive regulation of interleukin-12 production, positive regulation of interleukin-1 beta production, cytokine-mediated signaling pathway, cell death, cell-cell signaling, immune response, inflammatory response, apoptotic process, adaptive immune response, positive regulation of antimicrobial peptide production, 0 0 0 0 0 0 0 0 0 ENSG00000112116 chr6 52236681 52244537 - IL17F protein_coding The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]. 112744 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0042803, GO:0019955, GO:0005515, GO:0005126, GO:0005125, protein homodimerization activity, cytokine binding, protein binding, cytokine receptor binding, cytokine activity, GO:2000340, GO:1900017, GO:0097400, GO:0097400, GO:0051216, GO:0050830, GO:0050829, GO:0045944, GO:0045087, GO:0032755, GO:0032677, GO:0032675, GO:0032663, GO:0032645, GO:0032641, GO:0019221, GO:0017015, GO:0016525, GO:0006954, GO:0002250, GO:0002225, GO:0001816, positive regulation of chemokine (C-X-C motif) ligand 1 production, positive regulation of cytokine production involved in inflammatory response, interleukin-17-mediated signaling pathway, interleukin-17-mediated signaling pathway, cartilage development, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, positive regulation of transcription by RNA polymerase II, innate immune response, positive regulation of interleukin-6 production, regulation of interleukin-8 production, regulation of interleukin-6 production, regulation of interleukin-2 production, regulation of granulocyte macrophage colony-stimulating factor production, lymphotoxin A production, cytokine-mediated signaling pathway, regulation of transforming growth factor beta receptor signaling pathway, negative regulation of angiogenesis, inflammatory response, adaptive immune response, positive regulation of antimicrobial peptide production, cytokine production, 1 0 0 0 0 0 0 0 0 ENSG00000112118 chr6 52264009 52284881 - MCM3 protein_coding The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2018]. 4172 GO:0071162, GO:0048471, GO:0042555, GO:0042555, GO:0016020, GO:0005813, GO:0005730, GO:0005658, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, CMG complex, perinuclear region of cytoplasm, MCM complex, MCM complex, membrane, centrosome, nucleolus, alpha DNA polymerase:primase complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0005524, GO:0005515, GO:0003697, GO:0003688, GO:0003678, GO:0003677, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, DNA helicase activity, DNA binding, GO:1902975, GO:0032508, GO:0006271, GO:0006270, GO:0006267, GO:0006260, GO:0000727, GO:0000082, mitotic DNA replication initiation, DNA duplex unwinding, DNA strand elongation involved in DNA replication, DNA replication initiation, pre-replicative complex assembly involved in nuclear cell cycle DNA replication, DNA replication, double-strand break repair via break-induced replication, G1/S transition of mitotic cell cycle, 27 15 47 62 30 75 73 26 48 ENSG00000112130 chr6 37353972 37394738 + RNF8 protein_coding The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 9025 GO:0035861, GO:0035861, GO:0030496, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, GO:0000151, GO:0000151, site of double-strand break, site of double-strand break, midbody, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, ubiquitin ligase complex, ubiquitin ligase complex, GO:0061630, GO:0043130, GO:0042803, GO:0042802, GO:0042393, GO:0042393, GO:0031625, GO:0008270, GO:0005515, GO:0004842, GO:0003682, ubiquitin protein ligase activity, ubiquitin binding, protein homodimerization activity, identical protein binding, histone binding, histone binding, ubiquitin protein ligase binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, chromatin binding, GO:0070936, GO:0070936, GO:0070535, GO:0070535, GO:0070535, GO:0070534, GO:0051865, GO:0051301, GO:0045739, GO:0045190, GO:0043486, GO:0036297, GO:0035093, GO:0034244, GO:0033523, GO:0033522, GO:0016567, GO:0016032, GO:0010212, GO:0007286, GO:0007049, GO:0006974, GO:0006511, GO:0006511, GO:0006303, GO:0006303, GO:0006302, GO:0006302, protein K48-linked ubiquitination, protein K48-linked ubiquitination, histone H2A K63-linked ubiquitination, histone H2A K63-linked ubiquitination, histone H2A K63-linked ubiquitination, protein K63-linked ubiquitination, protein autoubiquitination, cell division, positive regulation of DNA repair, isotype switching, histone exchange, interstrand cross-link repair, spermatogenesis, exchange of chromosomal proteins, negative regulation of transcription elongation from RNA polymerase II promoter, histone H2B ubiquitination, histone H2A ubiquitination, protein ubiquitination, viral process, response to ionizing radiation, spermatid development, cell cycle, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair, double-strand break repair, 4 7 16 29 8 27 16 4 27 ENSG00000112137 chr6 12716805 13290484 + PHACTR1 protein_coding The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]. 221692 GO:0045202, GO:0005829, GO:0005634, synapse, cytosol, nucleus, GO:0008157, GO:0005515, GO:0004864, GO:0003779, GO:0003779, protein phosphatase 1 binding, protein binding, protein phosphatase inhibitor activity, actin binding, actin binding, GO:2001222, GO:0140059, GO:0048870, GO:0048870, GO:0043149, GO:0043149, GO:0032515, GO:0031532, GO:0031032, GO:0030036, GO:0021987, regulation of neuron migration, dendrite arborization, cell motility, cell motility, stress fiber assembly, stress fiber assembly, negative regulation of phosphoprotein phosphatase activity, actin cytoskeleton reorganization, actomyosin structure organization, actin cytoskeleton organization, cerebral cortex development, 4001 6508 5660 21212 21016 29803 29215 19465 25850 ENSG00000112139 chr6 37630679 37699306 - MDGA1 protein_coding This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]. 266727 GO:0098982, GO:0098982, GO:0046658, GO:0046658, GO:0005886, GO:0005886, GO:0005794, GO:0005615, GO:0005576, GABA-ergic synapse, GABA-ergic synapse, anchored component of plasma membrane, anchored component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, extracellular space, extracellular region, GO:0003674, molecular_function, GO:1905606, GO:1905606, GO:0099179, GO:0099179, GO:0021527, GO:0007420, GO:0001764, regulation of presynapse assembly, regulation of presynapse assembly, regulation of synaptic membrane adhesion, regulation of synaptic membrane adhesion, spinal cord association neuron differentiation, brain development, neuron migration, 0 0 35 3 3 43 0 0 19 ENSG00000112144 chr6 53001279 53061802 - ICK protein_coding Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]. 22858 GO:0097546, GO:0097542, GO:0036064, GO:0005929, GO:0005929, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005634, GO:0001650, ciliary base, ciliary tip, ciliary basal body, cilium, cilium, cytosol, cytoplasm, nucleus, nucleus, nucleus, fibrillar center, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004707, GO:0004674, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, MAP kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:0060271, GO:0060271, GO:0042073, GO:0042073, GO:0035721, GO:0035720, GO:0035556, GO:0035556, GO:0010468, GO:0007275, GO:0007165, GO:0006468, GO:0000165, cilium assembly, cilium assembly, intraciliary transport, intraciliary transport, intraciliary retrograde transport, intraciliary anterograde transport, intracellular signal transduction, intracellular signal transduction, regulation of gene expression, multicellular organism development, signal transduction, protein phosphorylation, MAPK cascade, 55 48 62 70 93 99 87 58 83 ENSG00000112146 chr6 53051991 53100873 + FBXO9 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008]. 26268 GO:0019005, GO:0005829, GO:0005737, GO:0000151, SCF ubiquitin ligase complex, cytosol, cytoplasm, ubiquitin ligase complex, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0045444, GO:0045087, GO:0043687, GO:0032006, GO:0031146, GO:0016567, GO:0016567, GO:0000209, fat cell differentiation, innate immune response, post-translational protein modification, regulation of TOR signaling, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, protein polyubiquitination, 226 216 277 320 392 378 354 258 335 ENSG00000112149 chr6 14117256 14136918 + CD83 protein_coding The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 9308 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0043372, GO:0032743, GO:0032733, GO:0032713, GO:0014070, GO:0007165, GO:0006959, GO:0006952, positive regulation of CD4-positive, alpha-beta T cell differentiation, positive regulation of interleukin-2 production, positive regulation of interleukin-10 production, negative regulation of interleukin-4 production, response to organic cyclic compound, signal transduction, humoral immune response, defense response, 696 1478 1659 2918 4694 8293 4454 4716 8200 ENSG00000112159 chr6 89642499 89819723 - MDN1 protein_coding 23195 GO:0045111, GO:0030687, GO:0016020, GO:0005829, GO:0005730, GO:0005654, GO:0005634, intermediate filament cytoskeleton, preribosome, large subunit precursor, membrane, cytosol, nucleolus, nucleoplasm, nucleus, GO:0051082, GO:0016887, GO:0005524, GO:0005515, unfolded protein binding, ATPase activity, ATP binding, protein binding, GO:0065003, GO:0006364, GO:0000027, protein-containing complex assembly, rRNA processing, ribosomal large subunit assembly, 114 99 241 281 126 314 299 88 219 ENSG00000112164 chr6 39048798 39087743 + GLP1R protein_coding This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]. 2740 GO:0016021, GO:0005887, GO:0005886, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0044508, GO:0044508, GO:0017046, GO:0008528, GO:0005515, GO:0004967, GO:0004888, glucagon-like peptide 1 receptor activity, glucagon-like peptide 1 receptor activity, peptide hormone binding, G protein-coupled peptide receptor activity, protein binding, glucagon receptor activity, transmembrane signaling receptor activity, GO:1990911, GO:0071377, GO:0050796, GO:0045777, GO:0019933, GO:0008016, GO:0007611, GO:0007204, GO:0007190, GO:0007189, GO:0007188, GO:0007186, GO:0007166, response to psychosocial stress, cellular response to glucagon stimulus, regulation of insulin secretion, positive regulation of blood pressure, cAMP-mediated signaling, regulation of heart contraction, learning or memory, positive regulation of cytosolic calcium ion concentration, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000112167 chr6 39104064 39115189 - SAYSD1 protein_coding 55776 GO:0043231, GO:0030659, GO:0016021, intracellular membrane-bounded organelle, cytoplasmic vesicle membrane, integral component of membrane, 19 7 30 10 16 47 32 18 23 ENSG00000112175 chr6 55753645 55875564 - BMP5 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]. 653 GO:0031982, GO:0005615, GO:0005615, GO:0005575, vesicle, extracellular space, extracellular space, cellular_component, GO:0070700, GO:0070700, GO:0008083, GO:0005515, GO:0005125, BMP receptor binding, BMP receptor binding, growth factor activity, protein binding, cytokine activity, GO:2000065, GO:1905069, GO:1902042, GO:1900006, GO:0097065, GO:0071676, GO:0061384, GO:0060710, GO:0060411, GO:0060395, GO:0060037, GO:0051216, GO:0050679, GO:0048738, GO:0045944, GO:0043583, GO:0043569, GO:0032348, GO:0030902, GO:0030539, GO:0030509, GO:0021502, GO:0010894, GO:0010862, GO:0010862, GO:0010719, GO:0008285, GO:0008284, GO:0007389, GO:0003344, GO:0003323, GO:0003272, GO:0001503, GO:0001501, negative regulation of cortisol biosynthetic process, allantois development, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of dendrite development, anterior head development, negative regulation of mononuclear cell migration, heart trabecula morphogenesis, chorio-allantoic fusion, cardiac septum morphogenesis, SMAD protein signal transduction, pharyngeal system development, cartilage development, positive regulation of epithelial cell proliferation, cardiac muscle tissue development, positive regulation of transcription by RNA polymerase II, ear development, negative regulation of insulin-like growth factor receptor signaling pathway, negative regulation of aldosterone biosynthetic process, hindbrain development, male genitalia development, BMP signaling pathway, neural fold elevation formation, negative regulation of steroid biosynthetic process, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of epithelial to mesenchymal transition, negative regulation of cell population proliferation, positive regulation of cell population proliferation, pattern specification process, pericardium morphogenesis, type B pancreatic cell development, endocardial cushion formation, ossification, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000112182 chr6 89926529 90296908 - BACH2 protein_coding 60468 GO:0005829, GO:0005654, GO:0000785, GO:0000785, cytosol, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090721, GO:0051170, GO:0006357, GO:0000122, primary adaptive immune response involving T cells and B cells, import into nucleus, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 27 37 56 83 26 71 92 30 52 ENSG00000112183 chr6 17281346 17293875 + RBM24 protein_coding 221662 GO:0005829, GO:0005829, GO:0005654, GO:0005634, cytosol, cytosol, nucleoplasm, nucleus, GO:1990825, GO:1990715, GO:0097157, GO:0035925, GO:0005515, GO:0003730, GO:0003730, GO:0003730, sequence-specific mRNA binding, mRNA CDS binding, pre-mRNA intronic binding, mRNA 3'-UTR AU-rich region binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, GO:2000766, GO:2000738, GO:1905870, GO:1902811, GO:0061158, GO:0061157, GO:0048255, GO:0045663, GO:0043488, GO:0030154, GO:0010831, GO:0010830, GO:0008380, GO:0006974, GO:0006397, GO:0003197, GO:0000381, GO:0000381, negative regulation of cytoplasmic translation, positive regulation of stem cell differentiation, positive regulation of 3'-UTR-mediated mRNA stabilization, positive regulation of skeletal muscle fiber differentiation, 3'-UTR-mediated mRNA destabilization, mRNA destabilization, mRNA stabilization, positive regulation of myoblast differentiation, regulation of mRNA stability, cell differentiation, positive regulation of myotube differentiation, regulation of myotube differentiation, RNA splicing, cellular response to DNA damage stimulus, mRNA processing, endocardial cushion development, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000112186 chr6 17393216 17557792 + CAP2 protein_coding This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]. 10486 GO:0014069, GO:0005886, GO:0005737, postsynaptic density, plasma membrane, cytoplasm, GO:0042802, GO:0008179, GO:0005515, GO:0003779, identical protein binding, adenylate cyclase binding, protein binding, actin binding, GO:0045761, GO:0019933, GO:0007190, GO:0007165, GO:0000902, regulation of adenylate cyclase activity, cAMP-mediated signaling, activation of adenylate cyclase activity, signal transduction, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000112195 chr6 41190277 41201194 - TREML2 protein_coding TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]. 79865 GO:0016021, GO:0009986, GO:0009986, GO:0005886, integral component of membrane, cell surface, cell surface, plasma membrane, GO:0038023, GO:0038023, GO:0005515, signaling receptor activity, signaling receptor activity, protein binding, GO:0050776, GO:0042110, GO:0042110, regulation of immune response, T cell activation, T cell activation, 4500 3528 5190 552 1149 946 1013 1006 839 ENSG00000112200 chr6 57086844 57170307 + ZNF451 protein_coding 26036 GO:0016605, GO:0005634, GO:0005634, PML body, nucleus, nucleus, GO:0061665, GO:0061665, GO:0046872, GO:0005515, GO:0003714, GO:0003714, SUMO ligase activity, SUMO ligase activity, metal ion binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:2000616, GO:0060633, GO:0060633, GO:0045944, GO:0030512, GO:0016925, GO:0016925, GO:0016925, GO:0010468, negative regulation of histone H3-K9 acetylation, negative regulation of transcription initiation from RNA polymerase II promoter, negative regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription by RNA polymerase II, negative regulation of transforming growth factor beta receptor signaling pathway, protein sumoylation, protein sumoylation, protein sumoylation, regulation of gene expression, 217 223 298 247 234 388 257 170 315 ENSG00000112208 chr6 57172326 57189833 + BAG2 protein_coding BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]. 9532 GO:1901588, GO:0101031, GO:0030425, GO:0030424, GO:0005874, GO:0005829, dendritic microtubule, chaperone complex, dendrite, axon, microtubule, cytosol, GO:0051087, GO:0048156, GO:0044325, GO:0042802, GO:0031625, GO:0031072, GO:0005515, GO:0000774, GO:0000774, chaperone binding, tau protein binding, ion channel binding, identical protein binding, ubiquitin protein ligase binding, heat shock protein binding, protein binding, adenyl-nucleotide exchange factor activity, adenyl-nucleotide exchange factor activity, GO:1904667, GO:1901800, GO:1900034, GO:0050821, GO:0050821, GO:0032436, GO:0032091, GO:0031397, GO:0031397, GO:0019538, GO:0010954, GO:0006457, negative regulation of ubiquitin protein ligase activity, positive regulation of proteasomal protein catabolic process, regulation of cellular response to heat, protein stabilization, protein stabilization, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein binding, negative regulation of protein ubiquitination, negative regulation of protein ubiquitination, protein metabolic process, positive regulation of protein processing, protein folding, 7 12 20 13 8 34 24 10 20 ENSG00000112210 chr6 57186992 57222314 - RAB23 protein_coding This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 51715 GO:0045335, GO:0030670, GO:0030054, GO:0012505, GO:0010008, GO:0005886, GO:0005829, GO:0005813, GO:0005776, GO:0005776, GO:0005737, phagocytic vesicle, phagocytic vesicle membrane, cell junction, endomembrane system, endosome membrane, plasma membrane, cytosol, centrosome, autophagosome, autophagosome, cytoplasm, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0097094, GO:0060271, GO:0046039, GO:0042308, GO:0007165, GO:0006968, GO:0006886, GO:0000045, GO:0000045, craniofacial suture morphogenesis, cilium assembly, GTP metabolic process, negative regulation of protein import into nucleus, signal transduction, cellular defense response, intracellular protein transport, autophagosome assembly, autophagosome assembly, 1 1 4 2 1 8 3 2 2 ENSG00000112212 chr6 41042554 41044337 + TSPO2 protein_coding 222642 GO:0031090, GO:0016021, GO:0005886, GO:0005789, GO:0005783, GO:0005783, organelle membrane, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0015485, GO:0015485, GO:0005515, cholesterol binding, cholesterol binding, protein binding, GO:0098739, GO:0089718, GO:0043353, GO:0034389, GO:0032367, import across plasma membrane, amino acid import across plasma membrane, enucleate erythrocyte differentiation, lipid droplet organization, intracellular cholesterol transport, 3 5 0 1 2 8 3 5 1 ENSG00000112214 chr6 96562548 96616636 + FHL5 protein_coding The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]. 9457 GO:0030018, GO:0005634, Z disc, nucleus, GO:0046872, GO:0005515, GO:0003713, GO:0003712, metal ion binding, protein binding, transcription coactivator activity, transcription coregulator activity, GO:0045944, positive regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000112218 chr6 96794126 96837463 - GPR63 protein_coding This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]. 81491 GO:0043235, GO:0016021, GO:0005886, GO:0005829, GO:0005654, receptor complex, integral component of membrane, plasma membrane, cytosol, nucleoplasm, GO:0004930, GO:0003674, G protein-coupled receptor activity, molecular_function, GO:0008150, GO:0007186, biological_process, G protein-coupled receptor signaling pathway, 1 0 0 0 0 0 0 0 1 ENSG00000112232 chr6 61679960 62286227 - KHDRBS2 protein_coding 202559 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0042169, GO:0017124, GO:0008266, GO:0008143, GO:0005515, GO:0003729, SH2 domain binding, SH3 domain binding, poly(U) RNA binding, poly(A) binding, protein binding, mRNA binding, GO:0006397, GO:0000381, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, 0 2 0 0 0 0 4 0 0 ENSG00000112234 chr6 98868538 98948006 - FBXL4 protein_coding This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 26235 GO:0019005, GO:0016607, GO:0005829, GO:0005758, GO:0000151, SCF ubiquitin ligase complex, nuclear speck, cytosol, mitochondrial intermembrane space, ubiquitin ligase complex, GO:0005515, protein binding, GO:0043687, GO:0031146, GO:0000209, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein polyubiquitination, 147 126 127 94 192 136 132 113 150 ENSG00000112237 chr6 99542380 99568973 - CCNC protein_coding The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 892 GO:0016592, GO:0005654, GO:0005634, mediator complex, nucleoplasm, nucleus, GO:0042802, GO:0016538, GO:0005515, identical protein binding, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0045944, GO:0045944, GO:0006367, GO:0006357, GO:0000079, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 66 43 81 110 48 118 86 31 53 ENSG00000112238 chr6 99606730 99615578 + PRDM13 protein_coding 59336 GO:0005634, nucleus, GO:0046872, GO:0042054, GO:0003682, GO:0003677, GO:0001085, metal ion binding, histone methyltransferase activity, chromatin binding, DNA binding, RNA polymerase II transcription factor binding, GO:0022008, GO:0016571, GO:0010468, GO:0000122, neurogenesis, histone methylation, regulation of gene expression, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000112242 chr6 20401906 20493715 + E2F3 protein_coding This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. 1871 GO:0090575, GO:0090575, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0046983, GO:0043565, GO:0005515, GO:0001228, GO:0001228, GO:0001216, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein dimerization activity, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1905461, GO:0070345, GO:0045944, GO:0008284, GO:0006606, GO:0006367, GO:0006357, GO:0000082, positive regulation of vascular associated smooth muscle cell apoptotic process, negative regulation of fat cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of cell population proliferation, protein import into nucleus, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 1371 952 1930 552 817 728 678 563 600 ENSG00000112245 chr6 63521746 63583377 + PTP4A1 protein_coding This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X. [provided by RefSeq, Jun 2013]. 7803 GO:0009898, GO:0005819, GO:0005783, GO:0005769, GO:0005737, GO:0005737, GO:0005634, cytoplasmic side of plasma membrane, spindle, endoplasmic reticulum, early endosome, cytoplasm, cytoplasm, nucleus, GO:0008138, GO:0005515, GO:0004725, GO:0004725, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0035335, GO:0030335, GO:0007275, GO:0007049, peptidyl-tyrosine dephosphorylation, positive regulation of cell migration, multicellular organism development, cell cycle, 0 1 3 53 59 61 40 45 67 ENSG00000112246 chr6 100385015 100464929 - SIM1 protein_coding SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]. 6492 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046982, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000977, protein heterodimerization activity, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0030154, GO:0007399, GO:0006357, GO:0001657, cell differentiation, nervous system development, regulation of transcription by RNA polymerase II, ureteric bud development, 0 0 0 0 0 1 0 0 0 ENSG00000112249 chr6 100508194 100881372 - ASCC3 protein_coding This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 10973 GO:0099053, GO:0016607, GO:0016020, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0005634, activating signal cointegrator 1 complex, nuclear speck, membrane, cytosol, nucleoplasm, nucleus, nucleus, nucleus, GO:0043138, GO:0043138, GO:0005524, GO:0005515, GO:0003723, GO:0003723, 3'-5' DNA helicase activity, 3'-5' DNA helicase activity, ATP binding, protein binding, RNA binding, RNA binding, GO:0032508, GO:0008283, GO:0006307, GO:0006307, DNA duplex unwinding, cell population proliferation, DNA dealkylation involved in DNA repair, DNA dealkylation involved in DNA repair, 64 36 112 136 36 262 122 40 178 ENSG00000112273 chr6 22569493 22571666 + HDGFL1 protein_coding 154150 GO:0005634, nucleus, GO:0003712, GO:0003690, transcription coregulator activity, double-stranded DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000112276 chr6 105096822 105137174 - BVES protein_coding This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]. 11149 GO:0042383, GO:0042383, GO:0031253, GO:0030054, GO:0016328, GO:0016021, GO:0016021, GO:0005923, GO:0005901, GO:0005886, GO:0005886, sarcolemma, sarcolemma, cell projection membrane, cell junction, lateral plasma membrane, integral component of membrane, integral component of membrane, bicellular tight junction, caveola, plasma membrane, plasma membrane, GO:0030552, GO:0005515, GO:0005198, cAMP binding, protein binding, structural molecule activity, GO:2001135, GO:0090136, GO:0060973, GO:0060931, GO:0051146, GO:0048278, GO:0043087, GO:0042391, GO:0040017, GO:0034446, GO:0016192, GO:0008360, GO:0007519, GO:0007519, GO:0007517, GO:0007507, GO:0007507, GO:0002931, GO:0002244, GO:0002027, GO:0001921, regulation of endocytic recycling, epithelial cell-cell adhesion, cell migration involved in heart development, sinoatrial node cell development, striated muscle cell differentiation, vesicle docking, regulation of GTPase activity, regulation of membrane potential, positive regulation of locomotion, substrate adhesion-dependent cell spreading, vesicle-mediated transport, regulation of cell shape, skeletal muscle tissue development, skeletal muscle tissue development, muscle organ development, heart development, heart development, response to ischemia, hematopoietic progenitor cell differentiation, regulation of heart rate, positive regulation of receptor recycling, 0 0 0 0 0 0 0 0 0 ENSG00000112280 chr6 70215061 70303083 - COL9A1 protein_coding This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 1297 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005604, GO:0005594, GO:0005594, GO:0005594, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, basement membrane, collagen type IX trimer, collagen type IX trimer, collagen type IX trimer, extracellular region, GO:0046872, GO:0030020, GO:0030020, GO:0005515, GO:0005201, metal ion binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0030198, GO:0030198, GO:0009887, extracellular matrix organization, extracellular matrix organization, animal organ morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000112282 chr6 131573966 131628229 - MED23 protein_coding The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]. 9439 GO:0016592, GO:0005667, GO:0005667, GO:0005654, mediator complex, transcription regulator complex, transcription regulator complex, nucleoplasm, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:1903508, GO:0010628, GO:0006367, GO:0006357, GO:0006355, positive regulation of nucleic acid-templated transcription, positive regulation of gene expression, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 337 396 424 375 521 449 388 386 386 ENSG00000112290 chr6 110099819 110180004 - WASF1 protein_coding The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 8936 GO:0098794, GO:0032991, GO:0032839, GO:0031209, GO:0031209, GO:0030027, GO:0015629, GO:0005925, GO:0005856, GO:0005741, postsynapse, protein-containing complex, dendrite cytoplasm, SCAR complex, SCAR complex, lamellipodium, actin cytoskeleton, focal adhesion, cytoskeleton, mitochondrial outer membrane, GO:0071933, GO:0051018, GO:0034237, GO:0031267, GO:0005515, GO:0003779, Arp2/3 complex binding, protein kinase A binding, protein kinase A regulatory subunit binding, small GTPase binding, protein binding, actin binding, GO:2000601, GO:2000601, GO:1990416, GO:0098939, GO:0097484, GO:0072673, GO:0070584, GO:0065003, GO:0051388, GO:0030041, GO:0030036, GO:0030036, GO:0016601, GO:0006898, positive regulation of Arp2/3 complex-mediated actin nucleation, positive regulation of Arp2/3 complex-mediated actin nucleation, cellular response to brain-derived neurotrophic factor stimulus, dendritic transport of mitochondrion, dendrite extension, lamellipodium morphogenesis, mitochondrion morphogenesis, protein-containing complex assembly, positive regulation of neurotrophin TRK receptor signaling pathway, actin filament polymerization, actin cytoskeleton organization, actin cytoskeleton organization, Rac protein signal transduction, receptor-mediated endocytosis, 2 2 0 0 1 12 0 1 0 ENSG00000112293 chr6 24424565 24495205 - GPLD1 protein_coding Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]. 2822 GO:0070062, GO:0043231, GO:0031012, GO:0031012, GO:0005765, GO:0005737, GO:0005737, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, intracellular membrane-bounded organelle, extracellular matrix, extracellular matrix, lysosomal membrane, cytoplasm, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0017080, GO:0004630, GO:0004621, GO:0004621, GO:0004621, sodium channel regulator activity, phospholipase D activity, glycosylphosphatidylinositol phospholipase D activity, glycosylphosphatidylinositol phospholipase D activity, glycosylphosphatidylinositol phospholipase D activity, GO:1900076, GO:0097241, GO:0071467, GO:0071401, GO:0071397, GO:0071277, GO:0070633, GO:0051047, GO:0051044, GO:0046470, GO:0046470, GO:0043065, GO:0035774, GO:0035701, GO:0035690, GO:0032869, GO:0010983, GO:0010907, GO:0010897, GO:0010867, GO:0010694, GO:0010595, GO:0009749, GO:0008286, GO:0008285, GO:0006507, GO:0006507, GO:0006507, GO:0006501, GO:0002430, GO:0002062, GO:0002042, GO:0001503, regulation of cellular response to insulin stimulus, hematopoietic stem cell migration to bone marrow, cellular response to pH, cellular response to triglyceride, cellular response to cholesterol, cellular response to calcium ion, transepithelial transport, positive regulation of secretion, positive regulation of membrane protein ectodomain proteolysis, phosphatidylcholine metabolic process, phosphatidylcholine metabolic process, positive regulation of apoptotic process, positive regulation of insulin secretion involved in cellular response to glucose stimulus, hematopoietic stem cell migration, cellular response to drug, cellular response to insulin stimulus, positive regulation of high-density lipoprotein particle clearance, positive regulation of glucose metabolic process, negative regulation of triglyceride catabolic process, positive regulation of triglyceride biosynthetic process, positive regulation of alkaline phosphatase activity, positive regulation of endothelial cell migration, response to glucose, insulin receptor signaling pathway, negative regulation of cell population proliferation, GPI anchor release, GPI anchor release, GPI anchor release, C-terminal protein lipidation, complement receptor mediated signaling pathway, chondrocyte differentiation, cell migration involved in sprouting angiogenesis, ossification, 1 7 2 1 6 1 13 2 2 ENSG00000112294 chr6 24494852 24537207 + ALDH5A1 protein_coding This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 7915 GO:0005759, GO:0005739, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0042802, GO:0004777, GO:0004777, GO:0004777, GO:0004777, identical protein binding, succinate-semialdehyde dehydrogenase (NAD+) activity, succinate-semialdehyde dehydrogenase (NAD+) activity, succinate-semialdehyde dehydrogenase (NAD+) activity, succinate-semialdehyde dehydrogenase (NAD+) activity, GO:0055114, GO:0042135, GO:0009791, GO:0009450, GO:0009450, GO:0009450, GO:0007417, GO:0006536, GO:0006105, oxidation-reduction process, neurotransmitter catabolic process, post-embryonic development, gamma-aminobutyric acid catabolic process, gamma-aminobutyric acid catabolic process, gamma-aminobutyric acid catabolic process, central nervous system development, glutamate metabolic process, succinate metabolic process, 8 11 10 35 12 27 33 6 28 ENSG00000112297 chr6 106360808 106571978 + CRYBG1 protein_coding 202 GO:0005575, cellular_component, GO:0030246, GO:0003674, carbohydrate binding, molecular_function, GO:0008150, biological_process, 1029 864 1550 704 601 976 764 480 732 ENSG00000112299 chr6 132681590 132714049 - VNN1 protein_coding This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]. 8876 GO:0035577, GO:0031225, GO:0016021, GO:0005886, GO:0005576, azurophil granule membrane, anchored component of membrane, integral component of membrane, plasma membrane, extracellular region, GO:0017159, GO:0017159, pantetheine hydrolase activity, pantetheine hydrolase activity, GO:1902176, GO:0098609, GO:0045087, GO:0043312, GO:0033089, GO:0015939, GO:0015939, GO:0015939, GO:0006979, GO:0006954, GO:0002544, GO:0002526, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, cell-cell adhesion, innate immune response, neutrophil degranulation, positive regulation of T cell differentiation in thymus, pantothenate metabolic process, pantothenate metabolic process, pantothenate metabolic process, response to oxidative stress, inflammatory response, chronic inflammatory response, acute inflammatory response, 122 386 214 164 448 273 205 263 194 ENSG00000112303 chr6 132743870 132763459 - VNN2 protein_coding This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]. 8875 GO:0031225, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, extracellular region, GO:0017159, GO:0017159, GO:0005515, pantetheine hydrolase activity, pantetheine hydrolase activity, protein binding, GO:0015939, GO:0015939, GO:0015939, pantothenate metabolic process, pantothenate metabolic process, pantothenate metabolic process, 20826 14261 22491 2926 7297 4615 4536 7443 5397 ENSG00000112304 chr6 24667035 24705065 + ACOT13 protein_coding This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]. 55856 GO:0005829, GO:0005819, GO:0005739, GO:0005634, cytosol, spindle, mitochondrion, nucleus, GO:0102991, GO:0047617, GO:0047617, GO:0046872, GO:0016290, GO:0005515, myristoyl-CoA hydrolase activity, acyl-CoA hydrolase activity, acyl-CoA hydrolase activity, metal ion binding, palmitoyl-CoA hydrolase activity, protein binding, GO:0120163, GO:0051289, GO:0006637, negative regulation of cold-induced thermogenesis, protein homotetramerization, acyl-CoA metabolic process, 323 232 256 281 282 341 251 200 215 ENSG00000112305 chr6 70667776 70862015 + SMAP1 protein_coding The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 60682 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0046872, GO:0030276, GO:0005096, metal ion binding, clathrin binding, GTPase activator activity, GO:2000369, GO:0045648, GO:0043547, regulation of clathrin-dependent endocytosis, positive regulation of erythrocyte differentiation, positive regulation of GTPase activity, 182 171 266 165 277 238 196 190 215 ENSG00000112306 chr6 132814441 132817564 + RPS12 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6206 GO:0043231, GO:0022627, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005829, GO:0005829, GO:0005794, GO:0005654, intracellular membrane-bounded organelle, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, cytosol, cytosol, Golgi apparatus, nucleoplasm, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 507 283 831 1891 714 1866 1168 720 1378 ENSG00000112308 chr6 24704861 24720836 - C6orf62 protein_coding 81688 GO:0003674, molecular_function, GO:0008150, biological_process, 5749 5024 5780 7610 6106 9082 7193 4352 6006 ENSG00000112309 chr6 70856679 70957038 - B3GAT2 protein_coding The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]. 135152 GO:0016021, GO:0000139, GO:0000139, integral component of membrane, Golgi membrane, Golgi membrane, GO:0046872, GO:0015018, GO:0015018, metal ion binding, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity, GO:0050650, GO:0030203, GO:0006486, GO:0005975, chondroitin sulfate proteoglycan biosynthetic process, glycosaminoglycan metabolic process, protein glycosylation, carbohydrate metabolic process, 127 122 202 146 219 206 152 143 170 ENSG00000112312 chr6 24774931 24786099 + GMNN protein_coding This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]. 51053 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0070491, GO:0042826, GO:0005515, GO:0003714, GO:0003682, repressing transcription factor binding, histone deacetylase binding, protein binding, transcription corepressor activity, chromatin binding, GO:2000104, GO:0071163, GO:0045892, GO:0045786, GO:0045786, GO:0035563, GO:0009887, GO:0008156, GO:0008156, GO:0006275, GO:0000082, negative regulation of DNA-dependent DNA replication, DNA replication preinitiation complex assembly, negative regulation of transcription, DNA-templated, negative regulation of cell cycle, negative regulation of cell cycle, positive regulation of chromatin binding, animal organ morphogenesis, negative regulation of DNA replication, negative regulation of DNA replication, regulation of DNA replication, G1/S transition of mitotic cell cycle, 23 15 21 33 17 20 29 24 15 ENSG00000112319 chr6 133240598 133532120 + EYA4 protein_coding This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. 2070 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0005515, GO:0004725, metal ion binding, protein binding, protein tyrosine phosphatase activity, GO:2001240, GO:0048856, GO:0045739, GO:0035335, GO:0030154, GO:0016576, GO:0009653, GO:0007605, GO:0007601, GO:0007275, GO:0006281, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, anatomical structure development, positive regulation of DNA repair, peptidyl-tyrosine dephosphorylation, cell differentiation, histone dephosphorylation, anatomical structure morphogenesis, sensory perception of sound, visual perception, multicellular organism development, DNA repair, 0 0 0 0 0 0 0 0 0 ENSG00000112320 chr6 107489958 107660167 + SOBP protein_coding The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]. 55084 GO:0005634, nucleus, GO:0046872, GO:0032184, metal ion binding, SUMO polymer binding, GO:0090102, GO:0050890, GO:0042472, GO:0007626, GO:0007605, cochlea development, cognition, inner ear morphogenesis, locomotory behavior, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000112333 chr6 108166058 108188809 + NR2E1 protein_coding The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. 7101 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0042826, GO:0008270, GO:0005515, GO:0004879, GO:0003707, GO:0001228, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, histone deacetylase binding, zinc ion binding, protein binding, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000648, GO:2000179, GO:2000178, GO:0090049, GO:0060291, GO:0060164, GO:0060041, GO:0048856, GO:0048814, GO:0048712, GO:0045944, GO:0045787, GO:0045766, GO:0045665, GO:0045165, GO:0043401, GO:0043066, GO:0035176, GO:0035019, GO:0030522, GO:0030198, GO:0030154, GO:0021960, GO:0021895, GO:0021872, GO:0021819, GO:0021772, GO:0021764, GO:0021542, GO:0007601, GO:0007399, GO:0006367, GO:0006357, GO:0002118, GO:0001662, GO:0000122, positive regulation of stem cell proliferation, positive regulation of neural precursor cell proliferation, negative regulation of neural precursor cell proliferation, regulation of cell migration involved in sprouting angiogenesis, long-term synaptic potentiation, regulation of timing of neuron differentiation, retina development in camera-type eye, anatomical structure development, regulation of dendrite morphogenesis, negative regulation of astrocyte differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of cell cycle, positive regulation of angiogenesis, negative regulation of neuron differentiation, cell fate commitment, steroid hormone mediated signaling pathway, negative regulation of apoptotic process, social behavior, somatic stem cell population maintenance, intracellular receptor signaling pathway, extracellular matrix organization, cell differentiation, anterior commissure morphogenesis, cerebral cortex neuron differentiation, forebrain generation of neurons, layer formation in cerebral cortex, olfactory bulb development, amygdala development, dentate gyrus development, visual perception, nervous system development, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, aggressive behavior, behavioral fear response, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000112335 chr6 108211222 108261260 - SNX3 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. 8724 GO:0070062, GO:0032009, GO:0031901, GO:0031901, GO:0030904, GO:0030136, GO:0010008, GO:0010008, GO:0005829, GO:0005829, GO:0005769, GO:0005737, extracellular exosome, early phagosome, early endosome membrane, early endosome membrane, retromer complex, clathrin-coated vesicle, endosome membrane, endosome membrane, cytosol, cytosol, early endosome, cytoplasm, GO:0080025, GO:0070273, GO:0032266, GO:0032266, GO:0019903, GO:0010314, GO:0005515, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, protein phosphatase binding, phosphatidylinositol-5-phosphate binding, protein binding, GO:2000642, GO:0070676, GO:0051224, GO:0050765, GO:0046597, GO:0042177, GO:0034499, GO:0033157, GO:0032456, GO:0030111, GO:0022615, GO:0016579, GO:0016055, GO:0015031, GO:0010976, GO:0010324, GO:0009617, negative regulation of early endosome to late endosome transport, intralumenal vesicle formation, negative regulation of protein transport, negative regulation of phagocytosis, negative regulation of viral entry into host cell, negative regulation of protein catabolic process, late endosome to Golgi transport, regulation of intracellular protein transport, endocytic recycling, regulation of Wnt signaling pathway, protein to membrane docking, protein deubiquitination, Wnt signaling pathway, protein transport, positive regulation of neuron projection development, membrane invagination, response to bacterium, 649 584 737 307 461 409 294 489 309 ENSG00000112337 chr6 25912754 25930726 - SLC17A2 protein_coding 10246 GO:0016021, GO:0016020, GO:0005887, GO:0005764, integral component of membrane, membrane, integral component of plasma membrane, lysosome, GO:0022857, GO:0015136, GO:0005436, transmembrane transporter activity, sialic acid transmembrane transporter activity, sodium:phosphate symporter activity, GO:0035725, GO:0015739, GO:0006820, GO:0006814, GO:0006796, sodium ion transmembrane transport, sialic acid transport, anion transport, sodium ion transport, phosphate-containing compound metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000112339 chr6 134960378 135103056 - HBS1L protein_coding This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]. 10767 GO:0070062, GO:0016020, GO:0005829, extracellular exosome, membrane, cytosol, GO:0005525, GO:0005515, GO:0003924, GO:0003746, GTP binding, protein binding, GTPase activity, translation elongation factor activity, GO:0043928, GO:0007165, GO:0006414, GO:0006412, exonucleolytic catabolism of deadenylated mRNA, signal transduction, translational elongation, translation, 126 83 139 109 82 171 93 91 116 ENSG00000112343 chr6 25962802 25991226 + TRIM38 protein_coding This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012]. 10475 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005575, cytosol, cytosol, cytoplasm, nucleoplasm, cellular_component, GO:0061630, GO:0042803, GO:0019901, GO:0008270, GO:0005515, ubiquitin protein ligase activity, protein homodimerization activity, protein kinase binding, zinc ion binding, protein binding, GO:0070936, GO:0060333, GO:0051092, GO:0051092, GO:0051091, GO:0050687, GO:0046598, GO:0046596, GO:0045087, GO:0045070, GO:0043161, GO:0043123, GO:0043123, GO:0043123, GO:0032880, GO:0032648, GO:0016567, GO:0010508, GO:0010468, GO:0000209, protein K48-linked ubiquitination, interferon-gamma-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, negative regulation of defense response to virus, positive regulation of viral entry into host cell, regulation of viral entry into host cell, innate immune response, positive regulation of viral genome replication, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of protein localization, regulation of interferon-beta production, protein ubiquitination, positive regulation of autophagy, regulation of gene expression, protein polyubiquitination, 2711 2636 3299 2284 2813 2871 2481 2047 2445 ENSG00000112357 chr6 136822564 136913937 + PEX7 protein_coding This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]. 5191 GO:0005829, GO:0005829, GO:0005829, GO:0005782, GO:0005782, GO:0005778, GO:0005777, cytosol, cytosol, cytosol, peroxisomal matrix, peroxisomal matrix, peroxisomal membrane, peroxisome, GO:0042803, GO:0019899, GO:0005515, GO:0005053, GO:0005053, protein homodimerization activity, enzyme binding, protein binding, peroxisome matrix targeting signal-2 binding, peroxisome matrix targeting signal-2 binding, GO:0016558, GO:0016558, GO:0016558, GO:0008611, GO:0007031, GO:0006635, GO:0006625, GO:0001958, GO:0001764, protein import into peroxisome matrix, protein import into peroxisome matrix, protein import into peroxisome matrix, ether lipid biosynthetic process, peroxisome organization, fatty acid beta-oxidation, protein targeting to peroxisome, endochondral ossification, neuron migration, 4 6 6 7 8 9 7 8 2 ENSG00000112365 chr6 109462594 109483237 - ZBTB24 protein_coding This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]. 9841 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0002244, regulation of transcription by RNA polymerase II, hematopoietic progenitor cell differentiation, 89 65 120 83 65 101 63 44 68 ENSG00000112367 chr6 109691312 109825428 + FIG4 protein_coding The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]. 9896 GO:0055037, GO:0043231, GO:0031902, GO:0031901, GO:0010008, GO:0005811, GO:0005783, GO:0000139, recycling endosome, intracellular membrane-bounded organelle, late endosome membrane, early endosome membrane, endosome membrane, lipid droplet, endoplasmic reticulum, Golgi membrane, GO:0043813, GO:0043812, GO:0005515, GO:0004438, phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4-phosphate phosphatase activity, protein binding, phosphatidylinositol-3-phosphatase activity, GO:0048666, GO:0046856, GO:0043473, GO:0036092, GO:0032288, GO:0031642, GO:0010976, GO:0007626, GO:0007033, GO:0006661, neuron development, phosphatidylinositol dephosphorylation, pigmentation, phosphatidylinositol-3-phosphate biosynthetic process, myelin assembly, negative regulation of myelination, positive regulation of neuron projection development, locomotory behavior, vacuole organization, phosphatidylinositol biosynthetic process, 183 318 178 152 390 219 179 329 180 ENSG00000112378 chr6 138088505 138107511 - PERP protein_coding 64065 GO:0030057, GO:0005911, GO:0005887, GO:0005886, GO:0005794, GO:0005739, desmosome, cell-cell junction, integral component of plasma membrane, plasma membrane, Golgi apparatus, mitochondrion, GO:0005515, protein binding, GO:0098609, GO:0097202, GO:0097186, GO:0072332, GO:0070268, GO:0045862, GO:0042981, GO:0034113, GO:0007219, GO:0002934, cell-cell adhesion, activation of cysteine-type endopeptidase activity, amelogenesis, intrinsic apoptotic signaling pathway by p53 class mediator, cornification, positive regulation of proteolysis, regulation of apoptotic process, heterotypic cell-cell adhesion, Notch signaling pathway, desmosome organization, 9 8 21 14 2 20 5 11 17 ENSG00000112379 chr6 138161921 138344663 + ARFGEF3 protein_coding 57221 GO:0030658, GO:0016021, transport vesicle membrane, integral component of membrane, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0032012, GO:0030036, GO:0010923, regulation of ARF protein signal transduction, actin cytoskeleton organization, negative regulation of phosphatase activity, 0 0 2 5 0 1 0 0 3 ENSG00000112394 chr6 111087503 111231194 + SLC16A10 protein_coding SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004]. 117247 GO:0043231, GO:0030054, GO:0016323, GO:0016323, GO:0016021, GO:0005887, GO:0005886, intracellular membrane-bounded organelle, cell junction, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0015349, GO:0015173, GO:0015171, GO:0005515, thyroid hormone transmembrane transporter activity, aromatic amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:0070460, GO:0070327, GO:0015801, GO:0006865, GO:0006590, GO:0003333, thyroid-stimulating hormone secretion, thyroid hormone transport, aromatic amino acid transport, amino acid transport, thyroid hormone generation, amino acid transmembrane transport, 2 6 9 8 3 28 6 6 0 ENSG00000112406 chr6 139135112 139180802 + HECA protein_coding This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008]. 51696 GO:0016020, GO:0005737, GO:0005634, membrane, cytoplasm, nucleus, GO:0003674, molecular_function, GO:0045930, GO:0045930, GO:0030323, negative regulation of mitotic cell cycle, negative regulation of mitotic cell cycle, respiratory tube development, 5985 6468 7327 3528 5198 5137 4054 4089 4627 ENSG00000112414 chr6 142301854 142446266 + ADGRG6 protein_coding This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]. 57211 GO:0016021, GO:0009986, GO:0005887, GO:0005886, GO:0005737, integral component of membrane, cell surface, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0050840, GO:0043236, GO:0043236, GO:0005518, GO:0004930, GO:0004930, GO:0004930, extracellular matrix binding, laminin binding, laminin binding, collagen binding, G protein-coupled receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0060347, GO:0042552, GO:0022011, GO:0022011, GO:0019933, GO:0019933, GO:0014037, GO:0007189, GO:0007186, GO:0007166, GO:0007005, heart trabecula formation, myelination, myelination in peripheral nervous system, myelination in peripheral nervous system, cAMP-mediated signaling, cAMP-mediated signaling, Schwann cell differentiation, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, mitochondrion organization, 0 4 0 0 0 0 1 0 1 ENSG00000112419 chr6 143536845 143831185 + PHACTR2 protein_coding 9749 GO:0031092, GO:0005886, platelet alpha granule membrane, plasma membrane, GO:0005515, GO:0004864, GO:0003779, protein binding, protein phosphatase inhibitor activity, actin binding, GO:0032515, GO:0030036, GO:0002576, negative regulation of phosphoprotein phosphatase activity, actin cytoskeleton organization, platelet degranulation, 99 63 146 141 66 128 149 57 83 ENSG00000112425 chr6 145382535 145736023 - EPM2A protein_coding This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]. 7957 GO:0005634, nucleus, GO:0005515, protein binding, GO:0032007, GO:0016239, negative regulation of TOR signaling, positive regulation of macroautophagy, 2 4 5 27 4 11 17 1 28 ENSG00000112462 chr6 29373423 29375291 - OR12D3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81797 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000112473 chr6 33200445 33204439 + SLC39A7 protein_coding The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 7922 GO:0016021, GO:0016020, GO:0005794, GO:0005789, GO:0005783, GO:0005654, integral component of membrane, membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, GO:0005515, GO:0005385, GO:0005385, protein binding, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0071577, GO:0006882, zinc ion transmembrane transport, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000112486 chr6 167111807 167139696 + CCR6 protein_coding This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. 1235 GO:0097524, GO:0097228, GO:0097225, GO:0036126, GO:0009986, GO:0009897, GO:0005887, GO:0005886, sperm plasma membrane, sperm principal piece, sperm midpiece, sperm flagellum, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0019957, GO:0019957, GO:0019957, GO:0016493, GO:0016493, GO:0016493, GO:0005515, GO:0004950, signaling receptor activity, C-C chemokine binding, C-C chemokine binding, C-C chemokine binding, C-C chemokine receptor activity, C-C chemokine receptor activity, C-C chemokine receptor activity, protein binding, chemokine receptor activity, GO:2000510, GO:2000404, GO:1904156, GO:1904155, GO:0072679, GO:0072679, GO:0072678, GO:0072676, GO:0070098, GO:0060474, GO:0060326, GO:0060326, GO:0048290, GO:0019722, GO:0019722, GO:0010634, GO:0007204, GO:0007186, GO:0007165, GO:0006968, GO:0006959, GO:0006955, GO:0006935, GO:0006935, GO:0002523, GO:0002407, positive regulation of dendritic cell chemotaxis, regulation of T cell migration, DN3 thymocyte differentiation, DN2 thymocyte differentiation, thymocyte migration, thymocyte migration, T cell migration, lymphocyte migration, chemokine-mediated signaling pathway, positive regulation of flagellated sperm motility involved in capacitation, cell chemotaxis, cell chemotaxis, isotype switching to IgA isotypes, calcium-mediated signaling, calcium-mediated signaling, positive regulation of epithelial cell migration, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, signal transduction, cellular defense response, humoral immune response, immune response, chemotaxis, chemotaxis, leukocyte migration involved in inflammatory response, dendritic cell chemotaxis, 0 1 1 5 0 0 1 0 0 ENSG00000112494 chr6 167271169 167316019 + UNC93A protein_coding 54346 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000112499 chr6 160171061 160277638 - SLC22A2 protein_coding Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]. 6582 GO:0098793, GO:0070062, GO:0016324, GO:0016020, GO:0005887, GO:0005886, GO:0005886, presynapse, extracellular exosome, apical plasma membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0061459, GO:0042910, GO:0019534, GO:0019534, GO:0015562, GO:0015220, GO:0015179, GO:0015101, GO:0015101, GO:0015101, GO:0008504, GO:0005326, GO:0005275, L-arginine transmembrane transporter activity, xenobiotic transmembrane transporter activity, toxin transmembrane transporter activity, toxin transmembrane transporter activity, efflux transmembrane transporter activity, choline transmembrane transporter activity, L-amino acid transmembrane transporter activity, organic cation transmembrane transporter activity, organic cation transmembrane transporter activity, organic cation transmembrane transporter activity, monoamine transmembrane transporter activity, neurotransmitter transmembrane transporter activity, amine transmembrane transporter activity, GO:1990962, GO:1902475, GO:1901998, GO:1901998, GO:0150104, GO:0140115, GO:0097638, GO:0090494, GO:0089718, GO:0051620, GO:0051615, GO:0051610, GO:0042908, GO:0042908, GO:0042136, GO:0015871, GO:0015837, GO:0015695, GO:0015695, GO:0015695, GO:0010628, GO:0007589, GO:0007269, GO:0006919, GO:0006855, GO:0006836, xenobiotic transport across blood-brain barrier, L-alpha-amino acid transmembrane transport, toxin transport, toxin transport, transport across blood-brain barrier, export across plasma membrane, L-arginine import across plasma membrane, dopamine uptake, amino acid import across plasma membrane, norepinephrine uptake, histamine uptake, serotonin uptake, xenobiotic transport, xenobiotic transport, neurotransmitter biosynthetic process, choline transport, amine transport, organic cation transport, organic cation transport, organic cation transport, positive regulation of gene expression, body fluid secretion, neurotransmitter secretion, activation of cysteine-type endopeptidase activity involved in apoptotic process, drug transmembrane transport, neurotransmitter transport, 0 0 0 0 0 0 0 0 0 ENSG00000112511 chr6 33410399 33416453 + PHF1 protein_coding This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 5252 GO:0035861, GO:0035098, GO:0035098, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, site of double-strand break, ESC/E(Z) complex, ESC/E(Z) complex, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990226, GO:0046872, GO:0042802, GO:0035064, GO:0035064, GO:0005515, GO:0003682, GO:0003677, GO:0001226, histone methyltransferase binding, metal ion binding, identical protein binding, methylated histone binding, methylated histone binding, protein binding, chromatin binding, DNA binding, RNA polymerase II transcription corepressor binding, GO:0061087, GO:0061086, GO:0045814, GO:0006974, GO:0006355, GO:0006325, positive regulation of histone H3-K27 methylation, negative regulation of histone H3-K27 methylation, negative regulation of gene expression, epigenetic, cellular response to DNA damage stimulus, regulation of transcription, DNA-templated, chromatin organization, 100 17 19 63 39 262 61 184 15 ENSG00000112514 chr6 33416442 33418317 - CUTA protein_coding 51596 GO:0070062, GO:0016020, extracellular exosome, membrane, GO:0019899, GO:0005515, GO:0005507, enzyme binding, protein binding, copper ion binding, GO:0010038, GO:0008104, response to metal ion, protein localization, 32 0 46 83 4 72 43 2 5 ENSG00000112530 chr6 162727132 163315492 + PACRG protein_coding This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 135138 GO:0097225, GO:0044297, GO:0043005, GO:0043005, GO:0031982, GO:0031982, GO:0005829, GO:0005829, GO:0005634, sperm midpiece, cell body, neuron projection, neuron projection, vesicle, vesicle, cytosol, cytosol, nucleus, GO:0051879, GO:0051879, GO:0051087, GO:0051087, GO:0048487, GO:0043014, GO:0031625, GO:0031072, GO:0030544, GO:0030544, GO:0003779, GO:0001664, Hsp90 protein binding, Hsp90 protein binding, chaperone binding, chaperone binding, beta-tubulin binding, alpha-tubulin binding, ubiquitin protein ligase binding, heat shock protein binding, Hsp70 protein binding, Hsp70 protein binding, actin binding, G protein-coupled receptor binding, GO:0060548, GO:0060548, GO:0034620, GO:0007286, negative regulation of cell death, negative regulation of cell death, cellular response to unfolded protein, spermatid development, 0 0 0 0 0 0 0 0 0 ENSG00000112531 chr6 163414000 163578596 + QKI protein_coding The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 9444 GO:0045202, GO:0005737, GO:0005634, synapse, cytoplasm, nucleus, GO:0017124, GO:0005515, GO:0003729, GO:0003723, SH3 domain binding, protein binding, mRNA binding, RNA binding, GO:0051028, GO:0042759, GO:0042692, GO:0042552, GO:0010628, GO:0008380, GO:0007286, GO:0006417, GO:0006397, GO:0001570, GO:0000381, mRNA transport, long-chain fatty acid biosynthetic process, muscle cell differentiation, myelination, positive regulation of gene expression, RNA splicing, spermatid development, regulation of translation, mRNA processing, vasculogenesis, regulation of alternative mRNA splicing, via spliceosome, 4789 5330 6440 2088 3722 2859 2488 3075 2387 ENSG00000112539 chr6 165279664 165309607 - C6orf118 protein_coding 168090 0 0 0 0 0 0 0 0 0 ENSG00000112541 chr6 165327287 165988078 - PDE10A protein_coding The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]. 10846 GO:0043204, GO:0016020, GO:0005829, perikaryon, membrane, cytosol, GO:0047555, GO:0046872, GO:0030553, GO:0030552, GO:0030552, GO:0004118, GO:0004118, GO:0004114, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, cGMP binding, cAMP binding, cAMP binding, cGMP-stimulated cyclic-nucleotide phosphodiesterase activity, cGMP-stimulated cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0046069, GO:0043951, GO:0010754, GO:0010738, GO:0007186, GO:0007165, GO:0006198, cGMP catabolic process, negative regulation of cAMP-mediated signaling, negative regulation of cGMP-mediated signaling, regulation of protein kinase A signaling, G protein-coupled receptor signaling pathway, signal transduction, cAMP catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000112559 chr6 41636882 41654246 + MDFI protein_coding This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]. 4188 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0140416, GO:0042802, GO:0008134, GO:0005515, transcription regulator inhibitor activity, identical protein binding, transcription factor binding, protein binding, GO:0060707, GO:0048704, GO:0043392, GO:0042994, GO:0030178, GO:0009950, GO:0000122, trophoblast giant cell differentiation, embryonic skeletal system morphogenesis, negative regulation of DNA binding, cytoplasmic sequestering of transcription factor, negative regulation of Wnt signaling pathway, dorsal/ventral axis specification, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000112561 chr6 41683978 41736259 - TFEB protein_coding 7942 GO:0005829, GO:0005765, GO:0005737, GO:0005634, GO:0005634, GO:0005634, GO:0000785, cytosol, lysosomal membrane, cytoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0046983, GO:0019899, GO:0005515, GO:0003700, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein dimerization activity, enzyme binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045893, GO:0034198, GO:0032418, GO:0010508, GO:0010508, GO:0010468, GO:0009267, GO:0007040, GO:0007040, GO:0006959, GO:0006914, GO:0006357, GO:0006355, GO:0002250, GO:0001892, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, cellular response to amino acid starvation, lysosome localization, positive regulation of autophagy, positive regulation of autophagy, regulation of gene expression, cellular response to starvation, lysosome organization, lysosome organization, humoral immune response, autophagy, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, adaptive immune response, embryonic placenta development, 1008 926 1247 551 898 670 618 747 637 ENSG00000112562 chr6 168441151 168673445 + SMOC2 protein_coding This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 64094 GO:0071944, GO:0005615, GO:0005615, GO:0005614, GO:0005604, cell periphery, extracellular space, extracellular space, interstitial matrix, basement membrane, GO:0050840, GO:0008201, GO:0005515, GO:0005509, extracellular matrix binding, heparin binding, protein binding, calcium ion binding, GO:2001028, GO:2000573, GO:2000573, GO:1900748, GO:0045931, GO:0045766, GO:0045766, GO:0045743, GO:0035470, GO:0030198, GO:0010811, GO:0010595, positive regulation of endothelial cell chemotaxis, positive regulation of DNA biosynthetic process, positive regulation of DNA biosynthetic process, positive regulation of vascular endothelial growth factor signaling pathway, positive regulation of mitotic cell cycle, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of fibroblast growth factor receptor signaling pathway, positive regulation of vascular wound healing, extracellular matrix organization, positive regulation of cell-substrate adhesion, positive regulation of endothelial cell migration, 0 0 0 0 0 0 0 0 0 ENSG00000112576 chr6 41934933 42050357 - CCND3 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 896 GO:0016604, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000307, GO:0000307, nuclear body, membrane, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, cyclin-dependent protein kinase holoenzyme complex, GO:0019901, GO:0016538, GO:0005515, GO:0004693, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, cyclin-dependent protein serine/threonine kinase activity, GO:1900087, GO:0051301, GO:0046626, GO:0045737, GO:0044772, GO:0042127, GO:0042098, GO:0007165, GO:0001934, GO:0000122, GO:0000079, positive regulation of G1/S transition of mitotic cell cycle, cell division, regulation of insulin receptor signaling pathway, positive regulation of cyclin-dependent protein serine/threonine kinase activity, mitotic cell cycle phase transition, regulation of cell population proliferation, T cell proliferation, signal transduction, positive regulation of protein phosphorylation, negative regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 1041 1050 1485 495 882 771 522 785 623 ENSG00000112578 chr6 41921188 41933046 + BYSL protein_coding Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]. 705 GO:0045177, GO:0043231, GO:0030688, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, apical part of cell, intracellular membrane-bounded organelle, preribosome, small subunit precursor, membrane, cytosol, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0030515, GO:0005515, GO:0003723, snoRNA binding, protein binding, RNA binding, GO:1904749, GO:0042254, GO:0008283, GO:0006364, GO:0001829, GO:0000462, regulation of protein localization to nucleolus, ribosome biogenesis, cell population proliferation, rRNA processing, trophectodermal cell differentiation, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 5 4 14 10 7 17 9 5 8 ENSG00000112584 chr6 170290703 170407065 + FAM120B protein_coding 84498 GO:0005634, nucleus, GO:0005515, protein binding, GO:0045444, GO:0035357, fat cell differentiation, peroxisome proliferator activated receptor signaling pathway, 5 19 3 19 7 17 5 10 0 ENSG00000112592 chr6 170554302 170572870 + TBP protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]. 6908 GO:0097550, GO:0032991, GO:0005737, GO:0005672, GO:0005669, GO:0005654, GO:0005654, GO:0005634, GO:0001940, GO:0001939, GO:0000791, GO:0000785, GO:0000785, transcription preinitiation complex, protein-containing complex, cytoplasm, transcription factor TFIIA complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, male pronucleus, female pronucleus, euchromatin, chromatin, chromatin, GO:0140223, GO:0070491, GO:0019899, GO:0017162, GO:0016251, GO:0016251, GO:0008134, GO:0005515, GO:0003700, GO:0001103, GO:0001093, GO:0001091, GO:0001046, GO:0000995, GO:0000979, GO:0000978, GO:0000976, general transcription initiation factor activity, repressing transcription factor binding, enzyme binding, aryl hydrocarbon receptor binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, transcription factor binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II repressing transcription factor binding, TFIIB-class transcription factor binding, RNA polymerase II general transcription initiation factor binding, core promoter sequence-specific DNA binding, RNA polymerase III general transcription initiation factor activity, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901796, GO:0051123, GO:0045893, GO:0045815, GO:0042795, GO:0016032, GO:0007283, GO:0006383, GO:0006383, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006352, regulation of signal transduction by p53 class mediator, RNA polymerase II preinitiation complex assembly, positive regulation of transcription, DNA-templated, positive regulation of gene expression, epigenetic, snRNA transcription by RNA polymerase II, viral process, spermatogenesis, transcription by RNA polymerase III, transcription by RNA polymerase III, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, DNA-templated transcription, initiation, 118 134 113 101 193 139 97 111 73 ENSG00000112599 chr6 42184401 42194916 - GUCA1B protein_coding The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]. 2979 GO:0120199, GO:0097381, GO:0005886, GO:0001917, cone photoreceptor outer segment, photoreceptor disc membrane, plasma membrane, photoreceptor inner segment, GO:0008048, GO:0005515, GO:0005509, calcium sensitive guanylate cyclase activator activity, protein binding, calcium ion binding, GO:0031284, GO:0022400, GO:0007602, GO:0007601, GO:0007589, GO:0007267, GO:0007168, positive regulation of guanylate cyclase activity, regulation of rhodopsin mediated signaling pathway, phototransduction, visual perception, body fluid secretion, cell-cell signaling, receptor guanylyl cyclase signaling pathway, 7 19 23 14 46 23 11 20 13 ENSG00000112619 chr6 42696600 42722574 - PRPH2 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]. 5961 GO:0016021, GO:0005887, GO:0001917, GO:0001750, integral component of membrane, integral component of plasma membrane, photoreceptor inner segment, photoreceptor outer segment, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0060041, GO:0051291, GO:0051260, GO:0050908, GO:0035845, GO:0007601, GO:0007155, retina development in camera-type eye, protein heterooligomerization, protein homooligomerization, detection of light stimulus involved in visual perception, photoreceptor cell outer segment organization, visual perception, cell adhesion, 0 0 0 3 3 0 4 4 6 ENSG00000112624 chr6 42746958 42868560 + BICRAL protein_coding 23506 GO:0016514, GO:0016514, SWI/SNF complex, SWI/SNF complex, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:0045893, positive regulation of transcription, DNA-templated, 673 878 698 411 780 665 483 625 498 ENSG00000112640 chr6 42984499 43012342 + PPP2R5D protein_coding The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 5528 GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0000159, cytosol, cytosol, nucleoplasm, nucleus, protein phosphatase type 2A complex, GO:0072542, GO:0019888, GO:0005515, GO:0004721, protein phosphatase activator activity, protein phosphatase regulator activity, protein binding, phosphoprotein phosphatase activity, GO:0043666, GO:0035307, GO:0031952, GO:0010801, GO:0007399, GO:0007165, GO:0006470, GO:0006470, regulation of phosphoprotein phosphatase activity, positive regulation of protein dephosphorylation, regulation of protein autophosphorylation, negative regulation of peptidyl-threonine phosphorylation, nervous system development, signal transduction, protein dephosphorylation, protein dephosphorylation, 158 154 197 161 182 277 159 123 179 ENSG00000112651 chr6 43054029 43059806 - MRPL2 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. 51069 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003723, GO:0003723, structural constituent of ribosome, RNA binding, RNA binding, GO:0070126, GO:0070125, GO:0032543, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, 31 26 29 32 37 34 37 31 26 ENSG00000112655 chr6 43076268 43161719 + PTK7 protein_coding This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 5754 GO:0005925, GO:0005911, GO:0005911, GO:0005887, GO:0005886, focal adhesion, cell-cell junction, cell-cell junction, integral component of plasma membrane, plasma membrane, GO:1904929, GO:0050839, GO:0005524, GO:0005515, GO:0004672, coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway, cell adhesion molecule binding, ATP binding, protein binding, protein kinase activity, GO:0090263, GO:0090179, GO:0090103, GO:0071300, GO:0060976, GO:0060828, GO:0060484, GO:0060026, GO:0045198, GO:0042060, GO:0031532, GO:0016477, GO:0010976, GO:0007165, GO:0007155, GO:0007155, GO:0006468, GO:0003281, GO:0001822, positive regulation of canonical Wnt signaling pathway, planar cell polarity pathway involved in neural tube closure, cochlea morphogenesis, cellular response to retinoic acid, coronary vasculature development, regulation of canonical Wnt signaling pathway, lung-associated mesenchyme development, convergent extension, establishment of epithelial cell apical/basal polarity, wound healing, actin cytoskeleton reorganization, cell migration, positive regulation of neuron projection development, signal transduction, cell adhesion, cell adhesion, protein phosphorylation, ventricular septum development, kidney development, 7 1 0 3 6 6 6 4 4 ENSG00000112658 chr6 43171299 43181507 + SRF protein_coding This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. 6722 GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0070878, GO:0061629, GO:0042826, GO:0042803, GO:0031490, GO:0010736, GO:0010736, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, primary miRNA binding, RNA polymerase II-specific DNA-binding transcription factor binding, histone deacetylase binding, protein homodimerization activity, chromatin DNA binding, serum response element binding, serum response element binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902895, GO:1902894, GO:1900222, GO:0090398, GO:0090136, GO:0090009, GO:0071333, GO:0070830, GO:0061145, GO:0061029, GO:0060947, GO:0060534, GO:0060532, GO:0060425, GO:0060347, GO:0060324, GO:0060292, GO:0060261, GO:0060218, GO:0060055, GO:0055003, GO:0051491, GO:0051150, GO:0051091, GO:0051091, GO:0048821, GO:0048666, GO:0048589, GO:0048538, GO:0046716, GO:0046016, GO:0045987, GO:0045944, GO:0045944, GO:0045944, GO:0045773, GO:0045597, GO:0045214, GO:0045059, GO:0043589, GO:0043149, GO:0035912, GO:0035855, GO:0034097, GO:0034097, GO:0033561, GO:0031175, GO:0030878, GO:0030336, GO:0030220, GO:0030168, GO:0030155, GO:0030036, GO:0022028, GO:0021766, GO:0010735, GO:0010669, GO:0009725, GO:0009636, GO:0008306, GO:0008285, GO:0007616, GO:0007507, GO:0007160, GO:0006357, GO:0003257, GO:0002042, GO:0002011, GO:0001947, GO:0001829, GO:0001764, GO:0001707, GO:0001666, GO:0001569, positive regulation of pri-miRNA transcription by RNA polymerase II, negative regulation of pri-miRNA transcription by RNA polymerase II, negative regulation of amyloid-beta clearance, cellular senescence, epithelial cell-cell adhesion, primitive streak formation, cellular response to glucose stimulus, bicellular tight junction assembly, lung smooth muscle development, eyelid development in camera-type eye, cardiac vascular smooth muscle cell differentiation, trachea cartilage development, bronchus cartilage development, lung morphogenesis, heart trabecula formation, face development, long-term synaptic depression, positive regulation of transcription initiation from RNA polymerase II promoter, hematopoietic stem cell differentiation, angiogenesis involved in wound healing, cardiac myofibril assembly, positive regulation of filopodium assembly, regulation of smooth muscle cell differentiation, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, erythrocyte development, neuron development, developmental growth, thymus development, muscle cell cellular homeostasis, positive regulation of transcription by glucose, positive regulation of smooth muscle contraction, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of axon extension, positive regulation of cell differentiation, sarcomere organization, positive thymic T cell selection, skin morphogenesis, stress fiber assembly, dorsal aorta morphogenesis, megakaryocyte development, response to cytokine, response to cytokine, regulation of water loss via skin, neuron projection development, thyroid gland development, negative regulation of cell migration, platelet formation, platelet activation, regulation of cell adhesion, actin cytoskeleton organization, tangential migration from the subventricular zone to the olfactory bulb, hippocampus development, positive regulation of transcription via serum response element binding, epithelial structure maintenance, response to hormone, response to toxic substance, associative learning, negative regulation of cell population proliferation, long-term memory, heart development, cell-matrix adhesion, regulation of transcription by RNA polymerase II, positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation, cell migration involved in sprouting angiogenesis, morphogenesis of an epithelial sheet, heart looping, trophectodermal cell differentiation, neuron migration, mesoderm formation, response to hypoxia, branching involved in blood vessel morphogenesis, 1010 637 998 539 480 488 522 421 454 ENSG00000112659 chr6 43182175 43224587 + CUL9 protein_coding 23113 GO:0031461, GO:0031461, GO:0005829, GO:0005829, cullin-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, cytosol, cytosol, GO:0046872, GO:0031625, GO:0016740, GO:0005524, GO:0005515, metal ion binding, ubiquitin protein ligase binding, transferase activity, ATP binding, protein binding, GO:0043687, GO:0016567, GO:0016567, GO:0016567, GO:0007088, GO:0007088, GO:0006511, GO:0000226, post-translational protein modification, protein ubiquitination, protein ubiquitination, protein ubiquitination, regulation of mitotic nuclear division, regulation of mitotic nuclear division, ubiquitin-dependent protein catabolic process, microtubule cytoskeleton organization, 307 353 392 358 443 383 391 281 356 ENSG00000112667 chr6 43225629 43229484 - DNPH1 protein_coding This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]. 10591 GO:0070062, GO:0005829, GO:0005634, GO:0005634, GO:0005634, extracellular exosome, cytosol, nucleus, nucleus, nucleus, GO:0070694, GO:0070694, GO:0070694, GO:0070694, GO:0042803, GO:0042802, GO:0005515, deoxyribonucleoside 5'-monophosphate N-glycosidase activity, deoxyribonucleoside 5'-monophosphate N-glycosidase activity, deoxyribonucleoside 5'-monophosphate N-glycosidase activity, deoxyribonucleoside 5'-monophosphate N-glycosidase activity, protein homodimerization activity, identical protein binding, protein binding, GO:0030855, GO:0030307, GO:0009159, GO:0009159, GO:0009159, GO:0009116, GO:0006195, epithelial cell differentiation, positive regulation of cell growth, deoxyribonucleoside monophosphate catabolic process, deoxyribonucleoside monophosphate catabolic process, deoxyribonucleoside monophosphate catabolic process, nucleoside metabolic process, purine nucleotide catabolic process, 10 1 9 12 12 18 11 8 6 ENSG00000112679 chr6 291630 351355 + DUSP22 protein_coding 56940 GO:0061851, GO:0031941, GO:0005886, GO:0005829, GO:0005737, GO:0005634, leading edge of lamellipodium, filamentous actin, plasma membrane, cytosol, cytoplasm, nucleus, GO:1990782, GO:0106307, GO:0106306, GO:0008138, GO:0004726, GO:0004725, protein tyrosine kinase binding, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1903996, GO:0071364, GO:0051895, GO:0050868, GO:0050860, GO:0046330, GO:0042127, GO:0035335, GO:0030336, GO:0007179, GO:0002710, GO:0000122, negative regulation of non-membrane spanning protein tyrosine kinase activity, cellular response to epidermal growth factor stimulus, negative regulation of focal adhesion assembly, negative regulation of T cell activation, negative regulation of T cell receptor signaling pathway, positive regulation of JNK cascade, regulation of cell population proliferation, peptidyl-tyrosine dephosphorylation, negative regulation of cell migration, transforming growth factor beta receptor signaling pathway, negative regulation of T cell mediated immunity, negative regulation of transcription by RNA polymerase II, 715 666 869 333 589 457 371 533 327 ENSG00000112685 chr6 485133 693111 - EXOC2 protein_coding The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 55770 GO:0090543, GO:0016020, GO:0005886, GO:0005829, GO:0000145, GO:0000145, Flemming body, membrane, plasma membrane, cytosol, exocyst, exocyst, GO:0047485, GO:0031267, GO:0019901, GO:0005515, protein N-terminus binding, small GTPase binding, protein kinase binding, protein binding, GO:2000535, GO:0015031, GO:0006893, GO:0006887, regulation of entry of bacterium into host cell, protein transport, Golgi to plasma membrane transport, exocytosis, 83 52 90 117 67 166 98 53 88 ENSG00000112695 chr6 75237675 75250323 - COX7A2 protein_coding Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]. 1347 GO:0016021, GO:0005746, integral component of membrane, mitochondrial respirasome, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0097250, GO:0022900, GO:0006119, GO:0002082, proton transmembrane transport, mitochondrial respirasome assembly, electron transport chain, oxidative phosphorylation, regulation of oxidative phosphorylation, 283 217 274 147 181 221 149 201 165 ENSG00000112697 chr6 75252924 75284968 - TMEM30A protein_coding 55754 GO:1990531, GO:0035579, GO:0035577, GO:0030658, GO:0016324, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005783, phospholipid-translocating ATPase complex, specific granule membrane, azurophil granule membrane, transport vesicle membrane, apical plasma membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, GO:0015247, GO:0005515, aminophospholipid flippase activity, protein binding, GO:0140331, GO:0070863, GO:0045332, GO:0045332, GO:0043312, GO:0036010, GO:0015917, GO:0010976, GO:0006855, aminophospholipid translocation, positive regulation of protein exit from endoplasmic reticulum, phospholipid translocation, phospholipid translocation, neutrophil degranulation, protein localization to endosome, aminophospholipid transport, positive regulation of neuron projection development, drug transmembrane transport, 2323 2493 2467 593 1233 800 754 1280 785 ENSG00000112699 chr6 1623806 2245692 - GMDS protein_coding GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]. 2762 GO:0070062, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, cytosol, cytoplasm, cytoplasm, GO:0070401, GO:0042802, GO:0008446, GO:0008446, GO:0008446, GO:0008446, GO:0005515, NADP+ binding, identical protein binding, GDP-mannose 4,6-dehydratase activity, GDP-mannose 4,6-dehydratase activity, GDP-mannose 4,6-dehydratase activity, GDP-mannose 4,6-dehydratase activity, protein binding, GO:0042351, GO:0042351, GO:0042351, GO:0019673, GO:0019673, GO:0019673, GO:0007219, 'de novo' GDP-L-fucose biosynthetic process, 'de novo' GDP-L-fucose biosynthetic process, 'de novo' GDP-L-fucose biosynthetic process, GDP-mannose metabolic process, GDP-mannose metabolic process, GDP-mannose metabolic process, Notch signaling pathway, 25 49 40 18 41 44 21 38 26 ENSG00000112701 chr6 75601509 75718278 + SENP6 protein_coding Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]. 26054 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0070139, GO:0070139, GO:0005515, SUMO-specific endopeptidase activity, SUMO-specific endopeptidase activity, protein binding, GO:0090234, GO:0090234, GO:0090169, GO:0090169, GO:0070646, GO:0016926, GO:0016926, GO:0016925, regulation of kinetochore assembly, regulation of kinetochore assembly, regulation of spindle assembly, regulation of spindle assembly, protein modification by small protein removal, protein desumoylation, protein desumoylation, protein sumoylation, 2003 1864 2198 1893 2148 1935 1979 1470 1676 ENSG00000112706 chr6 75921115 76072678 - IMPG1 protein_coding This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 3617 GO:0033165, GO:0031012, GO:0001917, GO:0001750, interphotoreceptor matrix, extracellular matrix, photoreceptor inner segment, photoreceptor outer segment, GO:0035374, GO:0008201, GO:0005540, GO:0005201, chondroitin sulfate binding, heparin binding, hyaluronic acid binding, extracellular matrix structural constituent, GO:0007601, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000112715 chr6 43770184 43786487 + VEGFA protein_coding This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020]. 7422 GO:0031093, GO:0031012, GO:0030141, GO:0016020, GO:0009986, GO:0005912, GO:0005737, GO:0005615, GO:0005615, GO:0005615, GO:0005576, platelet alpha granule lumen, extracellular matrix, secretory granule, membrane, cell surface, adherens junction, cytoplasm, extracellular space, extracellular space, extracellular space, extracellular region, GO:0050840, GO:0048018, GO:0048018, GO:0043184, GO:0043184, GO:0043183, GO:0043183, GO:0042803, GO:0042802, GO:0042056, GO:0042056, GO:0008201, GO:0008201, GO:0008083, GO:0008083, GO:0008083, GO:0005515, GO:0005172, GO:0005172, GO:0005161, GO:0005125, GO:0005125, GO:0001968, extracellular matrix binding, receptor ligand activity, receptor ligand activity, vascular endothelial growth factor receptor 2 binding, vascular endothelial growth factor receptor 2 binding, vascular endothelial growth factor receptor 1 binding, vascular endothelial growth factor receptor 1 binding, protein homodimerization activity, identical protein binding, chemoattractant activity, chemoattractant activity, heparin binding, heparin binding, growth factor activity, growth factor activity, growth factor activity, protein binding, vascular endothelial growth factor receptor binding, vascular endothelial growth factor receptor binding, platelet-derived growth factor receptor binding, cytokine activity, cytokine activity, fibronectin binding, GO:2000048, GO:1905604, GO:1903672, GO:1903672, GO:1903589, GO:1903589, GO:1903572, GO:1903392, GO:1903141, GO:1902336, GO:1901727, GO:1901165, GO:1900745, GO:1900086, GO:0120162, GO:0097533, GO:0097475, GO:0090259, GO:0090190, GO:0090050, GO:0090050, GO:0090050, GO:0090037, GO:0071679, GO:0071542, GO:0071456, GO:0061419, GO:0061418, GO:0061042, GO:0060982, GO:0060948, GO:0060754, GO:0060749, GO:0060319, GO:0051894, GO:0051781, GO:0051272, GO:0050930, GO:0050930, GO:0050927, GO:0050918, GO:0050731, GO:0050679, GO:0048844, GO:0048842, GO:0048754, GO:0048739, GO:0048593, GO:0048469, GO:0048010, GO:0048010, GO:0048010, GO:0045944, GO:0045944, GO:0045785, GO:0045766, GO:0045766, GO:0045766, GO:0043536, GO:0043536, GO:0043406, GO:0043154, GO:0043129, GO:0043117, GO:0043066, GO:0042531, GO:0042462, GO:0038190, GO:0038091, GO:0038084, GO:0038084, GO:0038033, GO:0036324, GO:0036303, GO:0035924, GO:0035767, GO:0035148, GO:0033138, GO:0032793, GO:0032147, GO:0031954, GO:0031334, GO:0031077, GO:0030855, GO:0030335, GO:0030324, GO:0030225, GO:0030224, GO:0019221, GO:0010749, GO:0010629, GO:0010629, GO:0010628, GO:0010595, GO:0008360, GO:0008284, GO:0008284, GO:0007595, GO:0007498, GO:0007399, GO:0006357, GO:0003169, GO:0003151, GO:0003007, GO:0002687, GO:0002576, GO:0002092, GO:0002053, GO:0002052, GO:0002042, GO:0002040, GO:0001938, GO:0001938, GO:0001938, GO:0001934, GO:0001934, GO:0001822, GO:0001701, GO:0001666, GO:0001666, GO:0001570, GO:0001569, GO:0001569, GO:0001541, GO:0001525, GO:0000122, negative regulation of cell-cell adhesion mediated by cadherin, negative regulation of blood-brain barrier permeability, positive regulation of sprouting angiogenesis, positive regulation of sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of protein kinase D signaling, negative regulation of adherens junction organization, negative regulation of establishment of endothelial barrier, positive regulation of retinal ganglion cell axon guidance, positive regulation of histone deacetylase activity, positive regulation of trophoblast cell migration, positive regulation of p38MAPK cascade, positive regulation of peptidyl-tyrosine autophosphorylation, positive regulation of cold-induced thermogenesis, cellular stress response to acid chemical, motor neuron migration, regulation of retinal ganglion cell axon guidance, positive regulation of branching involved in ureteric bud morphogenesis, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of protein kinase C signaling, commissural neuron axon guidance, dopaminergic neuron differentiation, cellular response to hypoxia, positive regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of transcription from RNA polymerase II promoter in response to hypoxia, vascular wound healing, coronary artery morphogenesis, cardiac vascular smooth muscle cell development, positive regulation of mast cell chemotaxis, mammary gland alveolus development, primitive erythrocyte differentiation, positive regulation of focal adhesion assembly, positive regulation of cell division, positive regulation of cellular component movement, induction of positive chemotaxis, induction of positive chemotaxis, positive regulation of positive chemotaxis, positive chemotaxis, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of epithelial cell proliferation, artery morphogenesis, positive regulation of axon extension involved in axon guidance, branching morphogenesis of an epithelial tube, cardiac muscle fiber development, camera-type eye morphogenesis, cell maturation, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of cell adhesion, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, positive regulation of MAP kinase activity, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, surfactant homeostasis, positive regulation of vascular permeability, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, eye photoreceptor cell development, VEGF-activated neuropilin signaling pathway, positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway, vascular endothelial growth factor signaling pathway, vascular endothelial growth factor signaling pathway, positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor-2 signaling pathway, lymph vessel morphogenesis, cellular response to vascular endothelial growth factor stimulus, endothelial cell chemotaxis, tube formation, positive regulation of peptidyl-serine phosphorylation, positive regulation of CREB transcription factor activity, activation of protein kinase activity, positive regulation of protein autophosphorylation, positive regulation of protein-containing complex assembly, post-embryonic camera-type eye development, epithelial cell differentiation, positive regulation of cell migration, lung development, macrophage differentiation, monocyte differentiation, cytokine-mediated signaling pathway, regulation of nitric oxide mediated signal transduction, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, positive regulation of endothelial cell migration, regulation of cell shape, positive regulation of cell population proliferation, positive regulation of cell population proliferation, lactation, mesoderm development, nervous system development, regulation of transcription by RNA polymerase II, coronary vein morphogenesis, outflow tract morphogenesis, heart morphogenesis, positive regulation of leukocyte migration, platelet degranulation, positive regulation of receptor internalization, positive regulation of mesenchymal cell proliferation, positive regulation of neuroblast proliferation, cell migration involved in sprouting angiogenesis, sprouting angiogenesis, positive regulation of endothelial cell proliferation, positive regulation of endothelial cell proliferation, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, kidney development, in utero embryonic development, response to hypoxia, response to hypoxia, vasculogenesis, branching involved in blood vessel morphogenesis, branching involved in blood vessel morphogenesis, ovarian follicle development, angiogenesis, negative regulation of transcription by RNA polymerase II, 493 1494 1324 10822 8272 10583 14221 9321 9790 ENSG00000112739 chr6 4021267 4064983 + PRPF4B protein_coding Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]. 8899 GO:0071013, GO:0016607, GO:0005694, GO:0005634, catalytic step 2 spliceosome, nuclear speck, chromosome, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0003723, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, RNA binding, GO:0008380, GO:0006468, GO:0000398, RNA splicing, protein phosphorylation, mRNA splicing, via spliceosome, 855 894 1211 940 877 1107 773 592 737 ENSG00000112742 chr6 80003887 80042527 + TTK protein_coding This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. 7272 GO:0016020, GO:0005819, GO:0005737, GO:0005634, GO:0000776, membrane, spindle, cytoplasm, nucleus, kinetochore, GO:0043515, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, kinetochore binding, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, GO:1903096, GO:0051304, GO:0046777, GO:0034501, GO:0033316, GO:0018108, GO:0018107, GO:0018105, GO:0016321, GO:0010862, GO:0008284, GO:0007094, GO:0007059, GO:0007052, GO:0007051, protein localization to meiotic spindle midzone, chromosome separation, protein autophosphorylation, protein localization to kinetochore, meiotic spindle assembly checkpoint, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, female meiosis chromosome segregation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of cell population proliferation, mitotic spindle assembly checkpoint, chromosome segregation, mitotic spindle organization, spindle organization, 2 1 4 2 0 0 0 1 6 ENSG00000112759 chr6 44219505 44234151 + SLC29A1 protein_coding This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]. 2030 GO:0098794, GO:0098793, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005886, postsynapse, presynapse, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0015213, GO:0015211, GO:0015211, GO:0005337, GO:0005326, GO:0005326, uridine transmembrane transporter activity, purine nucleoside transmembrane transporter activity, purine nucleoside transmembrane transporter activity, nucleoside transmembrane transporter activity, neurotransmitter transmembrane transporter activity, neurotransmitter transmembrane transporter activity, GO:1901642, GO:0150104, GO:0098810, GO:0072531, GO:0071456, GO:0071333, GO:0060079, GO:0032238, GO:0032238, GO:0030431, GO:0015862, GO:0015862, GO:0015860, GO:0015860, GO:0015858, GO:0007595, GO:0006836, GO:0006139, GO:0001504, nucleoside transmembrane transport, transport across blood-brain barrier, neurotransmitter reuptake, pyrimidine-containing compound transmembrane transport, cellular response to hypoxia, cellular response to glucose stimulus, excitatory postsynaptic potential, adenosine transport, adenosine transport, sleep, uridine transport, uridine transport, purine nucleoside transmembrane transport, purine nucleoside transmembrane transport, nucleoside transport, lactation, neurotransmitter transport, nucleobase-containing compound metabolic process, neurotransmitter uptake, 96 136 234 5 10 13 5 9 14 ENSG00000112761 chr6 112054072 112070969 + WISP3 protein_coding This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8838 GO:0031012, GO:0005783, GO:0005739, GO:0005615, GO:0005615, extracellular matrix, endoplasmic reticulum, mitochondrion, extracellular space, extracellular space, GO:0008201, GO:0008083, GO:0005520, GO:0005178, heparin binding, growth factor activity, insulin-like growth factor binding, integrin binding, GO:1903426, GO:0060548, GO:0051881, GO:0016525, GO:0008285, GO:0007267, GO:0007165, GO:0007155, regulation of reactive oxygen species biosynthetic process, negative regulation of cell death, regulation of mitochondrial membrane potential, negative regulation of angiogenesis, negative regulation of cell population proliferation, cell-cell signaling, signal transduction, cell adhesion, 0 0 1 2 0 0 2 1 0 ENSG00000112763 chr6 26457904 26476621 + BTN2A1 protein_coding This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]. 11120 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0005102, GO:0003674, signaling receptor binding, molecular_function, GO:0050852, GO:0006629, GO:0001817, T cell receptor signaling pathway, lipid metabolic process, regulation of cytokine production, 2122 1544 1773 1119 1386 955 1225 1058 881 ENSG00000112769 chr6 112108760 112254939 - LAMA4 protein_coding Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]. 3910 GO:0070062, GO:0062023, GO:0062023, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, basement membrane, extracellular region, GO:0005515, GO:0005201, GO:0005201, GO:0005102, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, signaling receptor binding, GO:0120163, GO:0045995, GO:0030334, GO:0030198, GO:0030155, GO:0007155, negative regulation of cold-induced thermogenesis, regulation of embryonic development, regulation of cell migration, extracellular matrix organization, regulation of cell adhesion, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000112773 chr6 81491439 81752774 - TENT5A protein_coding 55603 GO:1990817, GO:0005515, GO:0003723, RNA adenylyltransferase activity, protein binding, RNA binding, GO:0048255, GO:0009617, mRNA stabilization, response to bacterium, 244 237 290 175 372 378 174 198 314 ENSG00000112782 chr6 45880827 46080348 - CLIC5 protein_coding This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 53405 GO:0070062, GO:0034707, GO:0016324, GO:0015629, GO:0005938, GO:0005815, GO:0005794, extracellular exosome, chloride channel complex, apical plasma membrane, actin cytoskeleton, cell cortex, microtubule organizing center, Golgi apparatus, GO:0005515, GO:0005254, GO:0005244, protein binding, chloride channel activity, voltage-gated ion channel activity, GO:1902476, GO:0050896, GO:0034765, GO:0007605, GO:0007601, GO:0007565, GO:0006821, chloride transmembrane transport, response to stimulus, regulation of ion transmembrane transport, sensory perception of sound, visual perception, female pregnancy, chloride transport, 5 3 0 16 6 15 30 1 24 ENSG00000112787 chr12 132489551 132585188 + FBRSL1 protein_coding 57666 GO:0003723, RNA binding, 575 611 678 522 544 389 507 419 316 ENSG00000112796 chr6 46159187 46170971 - ENPP5 protein_coding This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]. 59084 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0008270, GO:0000210, zinc ion binding, NAD+ diphosphatase activity, GO:0007154, cell communication, 4 0 0 11 6 16 5 10 16 ENSG00000112799 chr6 6588108 6654983 + LY86 protein_coding 9450 GO:0005615, extracellular space, GO:0005515, protein binding, GO:0045087, GO:0031666, GO:0006954, innate immune response, positive regulation of lipopolysaccharide-mediated signaling pathway, inflammatory response, 3 12 2 19 12 3 2 15 3 ENSG00000112812 chr6 27247701 27256624 + PRSS16 protein_coding This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]. 10279 GO:0005768, GO:0005768, GO:0005764, GO:0005764, endosome, endosome, lysosome, lysosome, GO:0008239, GO:0008236, dipeptidyl-peptidase activity, serine-type peptidase activity, GO:0030163, GO:0006508, protein catabolic process, proteolysis, 0 0 0 1 0 0 0 1 0 ENSG00000112818 chr6 46793390 46839782 + MEP1A protein_coding 4224 GO:0070062, GO:0017090, GO:0005887, GO:0005615, extracellular exosome, meprin A complex, integral component of plasma membrane, extracellular space, GO:0008270, GO:0005515, GO:0004222, zinc ion binding, protein binding, metalloendopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 2 0 0 0 0 ENSG00000112837 chr6 84687351 84764519 - TBX18 protein_coding This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]. 9096 GO:0005634, GO:0005634, GO:0000785, GO:0000785, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0042803, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein homodimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0072189, GO:0060829, GO:0016331, GO:0006357, GO:0001756, GO:0001708, ureter development, negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation, morphogenesis of embryonic epithelium, regulation of transcription by RNA polymerase II, somitogenesis, cell fate specification, 0 0 0 0 0 0 0 0 0 ENSG00000112851 chr5 65926475 66082549 + ERBIN protein_coding This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 55914 GO:0098978, GO:0031965, GO:0030056, GO:0030054, GO:0016607, GO:0016323, GO:0016323, GO:0009925, GO:0005886, GO:0005886, GO:0005737, GO:0005634, GO:0005604, glutamatergic synapse, nuclear membrane, hemidesmosome, cell junction, nuclear speck, basolateral plasma membrane, basolateral plasma membrane, basal plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, basement membrane, GO:0005515, GO:0005200, GO:0005176, GO:0005102, GO:0005102, protein binding, structural constituent of cytoskeleton, ErbB-2 class receptor binding, signaling receptor binding, signaling receptor binding, GO:0099072, GO:0071638, GO:0071356, GO:0071356, GO:0070433, GO:0046579, GO:0045197, GO:0045175, GO:0045104, GO:0038128, GO:0032496, GO:0032495, GO:0032088, GO:0032088, GO:0007229, GO:0007173, GO:0007165, GO:0007155, GO:0006605, regulation of postsynaptic membrane neurotransmitter receptor levels, negative regulation of monocyte chemotactic protein-1 production, cellular response to tumor necrosis factor, cellular response to tumor necrosis factor, negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, positive regulation of Ras protein signal transduction, establishment or maintenance of epithelial cell apical/basal polarity, basal protein localization, intermediate filament cytoskeleton organization, ERBB2 signaling pathway, response to lipopolysaccharide, response to muramyl dipeptide, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, integrin-mediated signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, cell adhesion, protein targeting, 4559 3940 4908 1943 2568 2749 2440 2195 1976 ENSG00000112852 chr5 141094578 141098703 + PCDHB2 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56133 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007416, GO:0007399, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, nervous system development, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000112855 chr5 140691426 140699318 + HARS2 protein_coding Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 23438 GO:0005829, GO:0005759, GO:0005739, GO:0005739, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0042802, GO:0042802, GO:0005524, GO:0005515, GO:0004821, GO:0004821, GO:0004821, GO:0004821, GO:0003723, identical protein binding, identical protein binding, ATP binding, protein binding, histidine-tRNA ligase activity, histidine-tRNA ligase activity, histidine-tRNA ligase activity, histidine-tRNA ligase activity, RNA binding, GO:0006427, GO:0006427, GO:0006418, GO:0006412, histidyl-tRNA aminoacylation, histidyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, translation, 207 253 307 219 275 265 200 206 178 ENSG00000112874 chr5 103548855 103562793 - NUDT12 protein_coding Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]. 83594 GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005737, GO:0005634, cytosol, peroxisomal matrix, peroxisome, peroxisome, cytoplasm, nucleus, GO:0110153, GO:0035529, GO:0035529, GO:0035529, GO:0008270, GO:0005515, GO:0000287, GO:0000210, RNA NAD-cap (NMN-forming) hydrolase activity, NADH pyrophosphatase activity, NADH pyrophosphatase activity, NADH pyrophosphatase activity, zinc ion binding, protein binding, magnesium ion binding, NAD+ diphosphatase activity, GO:0110155, GO:0034356, GO:0019677, GO:0019677, GO:0006742, GO:0006742, GO:0006734, GO:0006402, NAD-cap decapping, NAD biosynthesis via nicotinamide riboside salvage pathway, NAD catabolic process, NAD catabolic process, NADP catabolic process, NADP catabolic process, NADH metabolic process, mRNA catabolic process, 0 0 0 1 0 2 1 2 0 ENSG00000112877 chr5 612272 667168 + CEP72 protein_coding The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]. 55722 GO:0034451, GO:0005829, GO:0005813, centriolar satellite, cytosol, centrosome, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1904779, GO:0097711, GO:0033566, GO:0010389, GO:0007099, GO:0007051, GO:0000086, regulation of protein localization to centrosome, ciliary basal body-plasma membrane docking, gamma-tubulin complex localization, regulation of G2/M transition of mitotic cell cycle, centriole replication, spindle organization, G2/M transition of mitotic cell cycle, 15 9 20 24 1 18 10 5 4 ENSG00000112893 chr5 109689366 109869625 + MAN2A1 protein_coding This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]. 4124 GO:0070062, GO:0016021, GO:0016020, GO:0005801, GO:0005797, GO:0000139, GO:0000139, extracellular exosome, integral component of membrane, membrane, cis-Golgi network, Golgi medial cisterna, Golgi membrane, Golgi membrane, GO:0046872, GO:0042803, GO:0030246, GO:0016799, GO:0004572, GO:0004559, metal ion binding, protein homodimerization activity, carbohydrate binding, hydrolase activity, hydrolyzing N-glycosyl compounds, mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity, alpha-mannosidase activity, GO:0060042, GO:0050769, GO:0048286, GO:0007585, GO:0007033, GO:0007005, GO:0006517, GO:0006491, GO:0006486, GO:0006013, GO:0001889, GO:0001701, retina morphogenesis in camera-type eye, positive regulation of neurogenesis, lung alveolus development, respiratory gaseous exchange by respiratory system, vacuole organization, mitochondrion organization, protein deglycosylation, N-glycan processing, protein glycosylation, mannose metabolic process, liver development, in utero embryonic development, 442 528 491 425 509 456 448 412 452 ENSG00000112902 chr5 9035026 9546075 - SEMA5A protein_coding This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]. 9037 GO:0070062, GO:0016021, GO:0016020, GO:0005886, extracellular exosome, integral component of membrane, membrane, plasma membrane, GO:0045545, GO:0045499, GO:0043395, GO:0035373, GO:0030215, GO:0030215, syndecan binding, chemorepellent activity, heparan sulfate proteoglycan binding, chondroitin sulfate proteoglycan binding, semaphorin receptor binding, semaphorin receptor binding, GO:2001028, GO:2000352, GO:1990256, GO:0090263, GO:0071526, GO:0060326, GO:0051897, GO:0050919, GO:0050918, GO:0048843, GO:0048843, GO:0048842, GO:0048675, GO:0045766, GO:0030836, GO:0030335, GO:0021536, GO:0007413, GO:0007411, GO:0007399, GO:0007267, GO:0007162, GO:0007155, GO:0002043, GO:0001938, GO:0001755, positive regulation of endothelial cell chemotaxis, negative regulation of endothelial cell apoptotic process, signal clustering, positive regulation of canonical Wnt signaling pathway, semaphorin-plexin signaling pathway, cell chemotaxis, positive regulation of protein kinase B signaling, negative chemotaxis, positive chemotaxis, negative regulation of axon extension involved in axon guidance, negative regulation of axon extension involved in axon guidance, positive regulation of axon extension involved in axon guidance, axon extension, positive regulation of angiogenesis, positive regulation of actin filament depolymerization, positive regulation of cell migration, diencephalon development, axonal fasciculation, axon guidance, nervous system development, cell-cell signaling, negative regulation of cell adhesion, cell adhesion, blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of endothelial cell proliferation, neural crest cell migration, 0 0 4 6 0 0 3 0 0 ENSG00000112936 chr5 40909252 40982939 + C7 protein_coding This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]. 730 GO:0070062, GO:0005579, GO:0005576, extracellular exosome, membrane attack complex, extracellular region, GO:0030449, GO:0019835, GO:0006958, GO:0006957, GO:0006956, regulation of complement activation, cytolysis, complement activation, classical pathway, complement activation, alternative pathway, complement activation, 2 0 0 0 0 0 0 0 0 ENSG00000112941 chr5 6713007 6757048 + TENT4A protein_coding The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]. 11044 GO:0031965, GO:0031499, GO:0005794, GO:0005730, GO:0005654, GO:0005634, nuclear membrane, TRAMP complex, Golgi apparatus, nucleolus, nucleoplasm, nucleus, GO:0070568, GO:0046872, GO:0043221, GO:0005524, GO:0004652, guanylyltransferase activity, metal ion binding, SMC family protein binding, ATP binding, polynucleotide adenylyltransferase activity, GO:1905870, GO:0071076, GO:0060212, GO:0042493, GO:0031123, GO:0007076, GO:0007062, GO:0006397, GO:0006302, positive regulation of 3'-UTR-mediated mRNA stabilization, RNA 3' uridylation, negative regulation of nuclear-transcribed mRNA poly(A) tail shortening, response to drug, RNA 3'-end processing, mitotic chromosome condensation, sister chromatid cohesion, mRNA processing, double-strand break repair, 332 322 500 390 364 491 381 267 450 ENSG00000112964 chr5 42423777 42721878 + GHR protein_coding This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]. 2690 GO:0070195, GO:0070195, GO:0043235, GO:0043235, GO:0036464, GO:0016021, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005615, GO:0005615, GO:0005576, growth hormone receptor complex, growth hormone receptor complex, receptor complex, receptor complex, cytoplasmic ribonucleoprotein granule, integral component of membrane, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, extracellular space, extracellular space, extracellular region, GO:0070064, GO:0042803, GO:0042802, GO:0019955, GO:0019901, GO:0019838, GO:0017046, GO:0017046, GO:0005515, GO:0004903, GO:0004896, proline-rich region binding, protein homodimerization activity, identical protein binding, cytokine binding, protein kinase binding, growth factor binding, peptide hormone binding, peptide hormone binding, protein binding, growth hormone receptor activity, cytokine receptor activity, GO:0060397, GO:0060396, GO:0060396, GO:0050731, GO:0050731, GO:0048009, GO:0046427, GO:0042976, GO:0042531, GO:0042445, GO:0040018, GO:0040014, GO:0032870, GO:0019530, GO:0019221, GO:0007259, GO:0006897, GO:0000187, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway, growth hormone receptor signaling pathway, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, insulin-like growth factor receptor signaling pathway, positive regulation of receptor signaling pathway via JAK-STAT, activation of Janus kinase activity, positive regulation of tyrosine phosphorylation of STAT protein, hormone metabolic process, positive regulation of multicellular organism growth, regulation of multicellular organism growth, cellular response to hormone stimulus, taurine metabolic process, cytokine-mediated signaling pathway, receptor signaling pathway via JAK-STAT, endocytosis, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000112972 chr5 43289395 43313512 - HMGCS1 protein_coding 3157 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0043177, GO:0042803, GO:0016853, GO:0008144, GO:0004421, GO:0004421, organic acid binding, protein homodimerization activity, isomerase activity, drug binding, hydroxymethylglutaryl-CoA synthase activity, hydroxymethylglutaryl-CoA synthase activity, GO:0071404, GO:0071397, GO:0071372, GO:0046690, GO:0045540, GO:0042493, GO:0033197, GO:0019216, GO:0014074, GO:0010142, GO:0009645, GO:0008584, GO:0007420, GO:0006695, GO:0006629, GO:0006084, GO:0001889, cellular response to low-density lipoprotein particle stimulus, cellular response to cholesterol, cellular response to follicle-stimulating hormone stimulus, response to tellurium ion, regulation of cholesterol biosynthetic process, response to drug, response to vitamin E, regulation of lipid metabolic process, response to purine-containing compound, farnesyl diphosphate biosynthetic process, mevalonate pathway, response to low light intensity stimulus, male gonad development, brain development, cholesterol biosynthetic process, lipid metabolic process, acetyl-CoA metabolic process, liver development, 562 579 915 1771 1803 2567 1739 1426 1734 ENSG00000112977 chr5 10679230 10761272 - DAP protein_coding This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]. 1611 GO:0070513, GO:0070513, death domain binding, death domain binding, GO:0097190, GO:0097190, GO:0045892, GO:0034198, GO:0034198, GO:0032088, GO:0010507, GO:0010507, GO:0006919, GO:0006915, GO:0006914, apoptotic signaling pathway, apoptotic signaling pathway, negative regulation of transcription, DNA-templated, cellular response to amino acid starvation, cellular response to amino acid starvation, negative regulation of NF-kappaB transcription factor activity, negative regulation of autophagy, negative regulation of autophagy, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, autophagy, 880 1007 1162 290 546 405 379 537 397 ENSG00000112981 chr5 138115172 138139443 - NME5 protein_coding 8382 GO:0036126, GO:0005929, GO:0005576, GO:0005575, sperm flagellum, cilium, extracellular region, cellular_component, GO:0005515, GO:0004550, protein binding, nucleoside diphosphate kinase activity, GO:1902176, GO:0060271, GO:0021591, GO:0009116, GO:0007286, GO:0007283, GO:0006241, GO:0006228, GO:0006183, GO:0006165, GO:0003351, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, cilium assembly, ventricular system development, nucleoside metabolic process, spermatid development, spermatogenesis, CTP biosynthetic process, UTP biosynthetic process, GTP biosynthetic process, nucleoside diphosphate phosphorylation, epithelial cilium movement involved in extracellular fluid movement, 0 0 0 0 0 0 0 0 0 ENSG00000112983 chr5 138139766 138178986 - BRD8 protein_coding The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]. 10902 GO:0035267, GO:0035267, GO:0005739, GO:0005654, GO:0005654, GO:0000812, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, mitochondrion, nucleoplasm, nucleoplasm, Swr1 complex, GO:0046966, GO:0030374, GO:0005515, thyroid hormone receptor binding, nuclear receptor coactivator activity, protein binding, GO:0097067, GO:0045944, GO:0043968, GO:0043967, GO:0040008, GO:0016573, GO:0007166, cellular response to thyroid hormone stimulus, positive regulation of transcription by RNA polymerase II, histone H2A acetylation, histone H4 acetylation, regulation of growth, histone acetylation, cell surface receptor signaling pathway, 297 338 356 221 306 277 209 236 185 ENSG00000112984 chr5 138178719 138187715 + KIF20A protein_coding 10112 GO:0045171, GO:0032154, GO:0030496, GO:0005874, GO:0005871, GO:0005819, GO:0005794, GO:0005654, GO:0005654, GO:0005634, intercellular bridge, cleavage furrow, midbody, microtubule, kinesin complex, spindle, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, GO:0019901, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, protein kinase binding, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0061952, GO:0032465, GO:0015031, GO:0007018, GO:0001578, GO:0000281, midbody abscission, regulation of cytokinesis, protein transport, microtubule-based movement, microtubule bundle formation, mitotic cytokinesis, 5 2 6 1 1 7 4 11 5 ENSG00000112992 chr5 43602692 43707405 + NNT protein_coding This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]. 23530 GO:0016021, GO:0016020, GO:0005746, GO:0005743, GO:0005739, integral component of membrane, membrane, mitochondrial respirasome, mitochondrial inner membrane, mitochondrion, GO:0051287, GO:0051287, GO:0050661, GO:0050661, GO:0008746, GO:0003957, NAD binding, NAD binding, NADP binding, NADP binding, NAD(P)+ transhydrogenase activity, NAD(P)+ transhydrogenase (B-specific) activity, GO:1903285, GO:1902600, GO:0098869, GO:0072593, GO:0055114, GO:0045454, GO:0043066, GO:0033273, GO:0032364, GO:0010918, GO:0006740, GO:0006099, GO:0001933, positive regulation of hydrogen peroxide catabolic process, proton transmembrane transport, cellular oxidant detoxification, reactive oxygen species metabolic process, oxidation-reduction process, cell redox homeostasis, negative regulation of apoptotic process, response to vitamin, oxygen homeostasis, positive regulation of mitochondrial membrane potential, NADPH regeneration, tricarboxylic acid cycle, negative regulation of protein phosphorylation, 41 50 103 122 82 134 97 62 128 ENSG00000112996 chr5 44808925 44820428 + MRPS30 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]. 10884 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006915, mitochondrial translational termination, mitochondrial translational elongation, apoptotic process, 31 17 45 56 26 56 45 17 26 ENSG00000113013 chr5 138553756 138575724 - HSPA9 protein_coding This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]. 3313 GO:0140275, GO:0070062, GO:0042645, GO:0005925, GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005737, GO:0005730, GO:0001401, MIB complex, extracellular exosome, mitochondrial nucleoid, focal adhesion, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, cytoplasm, nucleolus, SAM complex, GO:0051787, GO:0051082, GO:0051082, GO:0044183, GO:0031625, GO:0031072, GO:0016887, GO:0005524, GO:0005515, GO:0003723, misfolded protein binding, unfolded protein binding, unfolded protein binding, protein folding chaperone, ubiquitin protein ligase binding, heat shock protein binding, ATPase activity, ATP binding, protein binding, RNA binding, GO:1902037, GO:0051085, GO:0045647, GO:0045646, GO:0043066, GO:0042026, GO:0035722, GO:0034620, GO:0030218, GO:0016226, GO:0007007, GO:0006611, negative regulation of hematopoietic stem cell differentiation, chaperone cofactor-dependent protein refolding, negative regulation of erythrocyte differentiation, regulation of erythrocyte differentiation, negative regulation of apoptotic process, protein refolding, interleukin-12-mediated signaling pathway, cellular response to unfolded protein, erythrocyte differentiation, iron-sulfur cluster assembly, inner mitochondrial membrane organization, protein export from nucleus, 1379 1804 1574 9164 9722 8545 7657 5822 5112 ENSG00000113048 chr5 72219409 72320646 - MRPS27 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]. 23107 GO:0005886, GO:0005763, GO:0005743, GO:0005739, GO:0005739, GO:0005737, GO:0005730, GO:0005654, plasma membrane, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, cytoplasm, nucleolus, nucleoplasm, GO:0097177, GO:0019843, GO:0005515, GO:0000049, mitochondrial ribosome binding, rRNA binding, protein binding, tRNA binding, GO:0070131, GO:0070126, GO:0070125, GO:0008283, positive regulation of mitochondrial translation, mitochondrial translational termination, mitochondrial translational elongation, cell population proliferation, 33 22 47 89 26 93 54 21 47 ENSG00000113068 chr5 140245039 140303121 - PFDN1 protein_coding This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]. 5201 GO:0016272, GO:0005737, prefoldin complex, cytoplasm, GO:0051082, GO:0044183, GO:0044183, GO:0005515, unfolded protein binding, protein folding chaperone, protein folding chaperone, protein binding, GO:0006457, protein folding, 92 94 160 45 101 120 57 56 77 ENSG00000113070 chr5 140332843 140346631 - HBEGF protein_coding 1839 GO:0030669, GO:0030666, GO:0030665, GO:0009986, GO:0009986, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005615, GO:0005615, GO:0005615, GO:0005615, GO:0005576, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, clathrin-coated vesicle membrane, cell surface, cell surface, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, extracellular space, extracellular space, extracellular space, extracellular region, GO:0008201, GO:0008201, GO:0008083, GO:0008083, GO:0005515, GO:0005154, heparin binding, heparin binding, growth factor activity, growth factor activity, protein binding, epidermal growth factor receptor binding, GO:2000145, GO:0090303, GO:0061024, GO:0060326, GO:0051897, GO:0051897, GO:0051549, GO:0051545, GO:0048661, GO:0045741, GO:0042059, GO:0038128, GO:0035313, GO:0030335, GO:0030307, GO:0008284, GO:0008016, GO:0007517, GO:0007173, GO:0007173, GO:0007173, GO:0007165, GO:0000165, regulation of cell motility, positive regulation of wound healing, membrane organization, cell chemotaxis, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of keratinocyte migration, negative regulation of elastin biosynthetic process, positive regulation of smooth muscle cell proliferation, positive regulation of epidermal growth factor-activated receptor activity, negative regulation of epidermal growth factor receptor signaling pathway, ERBB2 signaling pathway, wound healing, spreading of epidermal cells, positive regulation of cell migration, positive regulation of cell growth, positive regulation of cell population proliferation, regulation of heart contraction, muscle organ development, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, MAPK cascade, 58 74 61 330 451 626 349 302 515 ENSG00000113073 chr5 140360202 140375143 + SLC4A9 protein_coding The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 83697 GO:0045177, GO:0016323, GO:0016021, GO:0005886, GO:0005886, apical part of cell, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0022857, GO:0015301, GO:0008510, GO:0005452, transmembrane transporter activity, anion:anion antiporter activity, sodium:bicarbonate symporter activity, inorganic anion exchanger activity, GO:0098656, GO:0055085, GO:0051453, GO:0050801, GO:0035725, GO:0015701, GO:0015701, GO:0015698, anion transmembrane transport, transmembrane transport, regulation of intracellular pH, ion homeostasis, sodium ion transmembrane transport, bicarbonate transport, bicarbonate transport, inorganic anion transport, 0 3 5 7 3 3 0 3 1 ENSG00000113083 chr5 122063195 122078360 - LOX protein_coding This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]. 4015 GO:0031012, GO:0005634, GO:0005615, GO:0005615, GO:0005581, GO:0005576, GO:0005576, extracellular matrix, nucleus, extracellular space, extracellular space, collagen trimer, extracellular region, extracellular region, GO:0005518, GO:0005515, GO:0005507, GO:0004720, GO:0004720, GO:0004720, collagen binding, protein binding, copper ion binding, protein-lysine 6-oxidase activity, protein-lysine 6-oxidase activity, protein-lysine 6-oxidase activity, GO:2000586, GO:1990869, GO:1903010, GO:1900120, GO:0071897, GO:0061448, GO:0060326, GO:0048747, GO:0048545, GO:0048514, GO:0048251, GO:0046716, GO:0045652, GO:0043491, GO:0042981, GO:0042493, GO:0042060, GO:0035906, GO:0035905, GO:0035791, GO:0030324, GO:0030282, GO:0030199, GO:0030198, GO:0018057, GO:0018057, GO:0017015, GO:0016202, GO:0010468, GO:0007507, GO:0006464, GO:0001932, GO:0001649, regulation of platelet-derived growth factor receptor-beta signaling pathway, cellular response to chemokine, regulation of bone development, regulation of receptor binding, DNA biosynthetic process, connective tissue development, cell chemotaxis, muscle fiber development, response to steroid hormone, blood vessel morphogenesis, elastic fiber assembly, muscle cell cellular homeostasis, regulation of megakaryocyte differentiation, protein kinase B signaling, regulation of apoptotic process, response to drug, wound healing, descending aorta development, ascending aorta development, platelet-derived growth factor receptor-beta signaling pathway, lung development, bone mineralization, collagen fibril organization, extracellular matrix organization, peptidyl-lysine oxidation, peptidyl-lysine oxidation, regulation of transforming growth factor beta receptor signaling pathway, regulation of striated muscle tissue development, regulation of gene expression, heart development, cellular protein modification process, regulation of protein phosphorylation, osteoblast differentiation, 0 0 0 1 0 0 3 0 0 ENSG00000113088 chr5 55024253 55034570 + GZMK protein_coding This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]. 3003 GO:0005576, extracellular region, GO:0008236, GO:0005515, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 76 23 174 369 74 404 259 73 295 ENSG00000113100 chr5 26880600 27121150 - CDH9 protein_coding This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]. 1007 GO:0099056, GO:0099055, GO:0016342, GO:0005912, GO:0005886, integral component of presynaptic membrane, integral component of postsynaptic membrane, catenin complex, adherens junction, plasma membrane, GO:0045296, GO:0005509, GO:0003674, cadherin binding, calcium ion binding, molecular_function, GO:0099560, GO:0098742, GO:0098609, GO:0034332, GO:0034332, GO:0016339, GO:0007416, GO:0007275, GO:0007156, GO:0007043, GO:0000902, synaptic membrane adhesion, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, adherens junction organization, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000113108 chr5 140558268 140564781 - APBB3 protein_coding The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10307 GO:0015629, GO:0005829, GO:0005737, GO:0005634, actin cytoskeleton, cytosol, cytoplasm, nucleus, GO:0008134, GO:0005515, GO:0001540, transcription factor binding, protein binding, amyloid-beta binding, GO:0006355, regulation of transcription, DNA-templated, 258 436 462 587 864 625 788 707 545 ENSG00000113119 chr5 140639427 140645408 + TMCO6 protein_coding 55374 GO:0016021, integral component of membrane, GO:0061608, GO:0005515, nuclear import signal receptor activity, protein binding, GO:0006606, protein import into nucleus, 211 175 230 141 168 191 100 138 170 ENSG00000113140 chr5 151661096 151687165 - SPARC protein_coding This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]. 6678 GO:0098978, GO:0071682, GO:0062023, GO:0043231, GO:0031093, GO:0031092, GO:0031091, GO:0016363, GO:0009986, GO:0005886, GO:0005739, GO:0005737, GO:0005737, GO:0005615, GO:0005604, GO:0005576, GO:0005576, GO:0005576, glutamatergic synapse, endocytic vesicle lumen, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, platelet alpha granule lumen, platelet alpha granule membrane, platelet alpha granule, nuclear matrix, cell surface, plasma membrane, mitochondrion, cytoplasm, cytoplasm, extracellular space, basement membrane, extracellular region, extracellular region, extracellular region, GO:0050840, GO:0005518, GO:0005518, GO:0005515, GO:0005509, GO:0005509, GO:0005201, extracellular matrix binding, collagen binding, collagen binding, protein binding, calcium ion binding, calcium ion binding, extracellular matrix structural constituent, GO:0071363, GO:0060348, GO:0051592, GO:0051591, GO:0051384, GO:0050807, GO:0048856, GO:0048839, GO:0046686, GO:0045471, GO:0043473, GO:0043434, GO:0042060, GO:0034097, GO:0033591, GO:0032496, GO:0030324, GO:0030198, GO:0022604, GO:0016525, GO:0010595, GO:0010288, GO:0009629, GO:0007507, GO:0006898, GO:0002576, GO:0001937, GO:0001503, cellular response to growth factor stimulus, bone development, response to calcium ion, response to cAMP, response to glucocorticoid, regulation of synapse organization, anatomical structure development, inner ear development, response to cadmium ion, response to ethanol, pigmentation, response to peptide hormone, wound healing, response to cytokine, response to L-ascorbic acid, response to lipopolysaccharide, lung development, extracellular matrix organization, regulation of cell morphogenesis, negative regulation of angiogenesis, positive regulation of endothelial cell migration, response to lead ion, response to gravity, heart development, receptor-mediated endocytosis, platelet degranulation, negative regulation of endothelial cell proliferation, ossification, 3 5 2 6 8 21 11 0 5 ENSG00000113141 chr5 140647058 140662479 + IK protein_coding The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq, Jul 2008]. 3550 GO:0097431, GO:0071005, GO:0016607, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000228, mitotic spindle pole, U2-type precatalytic spliceosome, nuclear speck, cytoplasm, nucleoplasm, nucleus, nucleus, nuclear chromosome, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0034501, GO:0016032, GO:0007094, GO:0000398, GO:0000381, GO:0000278, protein localization to kinetochore, viral process, mitotic spindle assembly checkpoint, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, mitotic cell cycle, 1848 1709 2282 1063 1359 1326 1048 1190 1177 ENSG00000113161 chr5 75336329 75362104 + HMGCR protein_coding HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 3156 GO:0016021, GO:0005789, GO:0005789, GO:0005783, GO:0005778, GO:0005778, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, peroxisomal membrane, peroxisomal membrane, GO:0120225, GO:0070402, GO:0051721, GO:0042802, GO:0042282, GO:0042282, GO:0005515, GO:0004420, GO:0004420, coenzyme A binding, NADPH binding, protein phosphatase 2A binding, identical protein binding, hydroxymethylglutaryl-CoA reductase activity, hydroxymethylglutaryl-CoA reductase activity, protein binding, hydroxymethylglutaryl-CoA reductase (NADPH) activity, hydroxymethylglutaryl-CoA reductase (NADPH) activity, GO:1900222, GO:0097756, GO:0070723, GO:0070374, GO:0070328, GO:0061179, GO:0061045, GO:0055114, GO:0050709, GO:0048661, GO:0048643, GO:0045540, GO:0045471, GO:0045445, GO:0043407, GO:0042632, GO:0042177, GO:0038183, GO:0032874, GO:0019216, GO:0016126, GO:0015936, GO:0010666, GO:0010664, GO:0008542, GO:0008299, GO:0007584, GO:0007568, GO:0006743, GO:0006695, GO:0006695, negative regulation of amyloid-beta clearance, negative regulation of blood vessel diameter, response to cholesterol, positive regulation of ERK1 and ERK2 cascade, triglyceride homeostasis, negative regulation of insulin secretion involved in cellular response to glucose stimulus, negative regulation of wound healing, oxidation-reduction process, negative regulation of protein secretion, positive regulation of smooth muscle cell proliferation, positive regulation of skeletal muscle tissue development, regulation of cholesterol biosynthetic process, response to ethanol, myoblast differentiation, negative regulation of MAP kinase activity, cholesterol homeostasis, negative regulation of protein catabolic process, bile acid signaling pathway, positive regulation of stress-activated MAPK cascade, regulation of lipid metabolic process, sterol biosynthetic process, coenzyme A metabolic process, positive regulation of cardiac muscle cell apoptotic process, negative regulation of striated muscle cell apoptotic process, visual learning, isoprenoid biosynthetic process, response to nutrient, aging, ubiquinone metabolic process, cholesterol biosynthetic process, cholesterol biosynthetic process, 1116 1010 1406 490 581 653 418 454 529 ENSG00000113163 chr5 75356345 75512138 - COL4A3BP protein_coding This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10087 GO:0048471, GO:0016020, GO:0005829, GO:0005829, GO:0005794, GO:0005794, GO:0005789, GO:0005739, GO:0005654, perinuclear region of cytoplasm, membrane, cytosol, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, mitochondrion, nucleoplasm, GO:1902388, GO:1902387, GO:0120017, GO:0097001, GO:0070273, GO:0016301, GO:0005515, ceramide 1-phosphate transfer activity, ceramide 1-phosphate binding, ceramide transfer activity, ceramide binding, phosphatidylinositol-4-phosphate binding, kinase activity, protein binding, GO:1902389, GO:0120012, GO:0120009, GO:0070584, GO:0055088, GO:0035627, GO:0035621, GO:0035621, GO:0034976, GO:0030148, GO:0016310, GO:0008283, GO:0007165, GO:0007029, GO:0006955, GO:0006936, GO:0006672, GO:0003007, GO:0001701, GO:0000902, ceramide 1-phosphate transport, intermembrane sphingolipid transfer, intermembrane lipid transfer, mitochondrion morphogenesis, lipid homeostasis, ceramide transport, ER to Golgi ceramide transport, ER to Golgi ceramide transport, response to endoplasmic reticulum stress, sphingolipid biosynthetic process, phosphorylation, cell population proliferation, signal transduction, endoplasmic reticulum organization, immune response, muscle contraction, ceramide metabolic process, heart morphogenesis, in utero embryonic development, cell morphogenesis, 1623 1672 1796 711 1063 912 776 765 740 ENSG00000113194 chr5 176447628 176510074 + FAF2 protein_coding The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]. 23197 GO:0035578, GO:0034098, GO:0005811, GO:0005783, GO:0005576, azurophil granule lumen, VCP-NPL4-UFD1 AAA ATPase complex, lipid droplet, endoplasmic reticulum, extracellular region, GO:0055102, GO:0043130, GO:0035473, GO:0031625, GO:0005515, lipase inhibitor activity, ubiquitin binding, lipase binding, ubiquitin protein ligase binding, protein binding, GO:0043312, GO:0043086, GO:0034389, GO:0030970, GO:0030433, GO:0006986, neutrophil degranulation, negative regulation of catalytic activity, lipid droplet organization, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, response to unfolded protein, 715 596 719 261 340 247 224 187 151 ENSG00000113196 chr5 154474972 154478264 - HAND1 protein_coding The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]. 9421 GO:0090575, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, cytoplasm, nucleolus, nucleoplasm, nucleus, chromatin, chromatin, GO:0043425, GO:0042803, GO:0042802, GO:0019899, GO:0008134, GO:0005515, GO:0001228, GO:0001227, GO:0001221, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, bHLH transcription factor binding, protein homodimerization activity, identical protein binding, enzyme binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription cofactor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1903026, GO:0060707, GO:0060536, GO:0060485, GO:0060411, GO:0055010, GO:0045944, GO:0045892, GO:0043433, GO:0042475, GO:0035050, GO:0032502, GO:0007507, GO:0007507, GO:0006357, GO:0003219, GO:0003218, GO:0003144, GO:0001947, GO:0001829, GO:0001824, GO:0001707, GO:0001525, GO:0000122, negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding, trophoblast giant cell differentiation, cartilage morphogenesis, mesenchyme development, cardiac septum morphogenesis, ventricular cardiac muscle tissue morphogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, odontogenesis of dentin-containing tooth, embryonic heart tube development, developmental process, heart development, heart development, regulation of transcription by RNA polymerase II, cardiac right ventricle formation, cardiac left ventricle formation, embryonic heart tube formation, heart looping, trophectodermal cell differentiation, blastocyst development, mesoderm formation, angiogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000113205 chr5 141100473 141103827 + PCDHB3 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56132 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0016339, GO:0007416, GO:0007399, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, nervous system development, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000113209 chr5 141135218 141138625 + PCDHB5 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 26167 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007416, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000113211 chr5 141150022 141153287 + PCDHB6 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 56130 GO:0045202, GO:0016021, GO:0005887, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, GO:0042802, GO:0005509, identical protein binding, calcium ion binding, GO:0016339, GO:0009988, GO:0007416, GO:0007399, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, cell-cell recognition, synapse assembly, nervous system development, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000113212 chr5 141172619 141176383 + PCDHB7 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]. 56129 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000113231 chr5 77210449 77429807 + PDE8B protein_coding The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]. 8622 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0046872, GO:0004115, GO:0004115, GO:0004114, metal ion binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0007186, GO:0007165, GO:0006198, G protein-coupled receptor signaling pathway, signal transduction, cAMP catabolic process, 0 0 5 5 8 3 5 1 0 ENSG00000113240 chr5 178602664 178630615 - CLK4 protein_coding The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008]. 57396 GO:0005634, nucleus, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, GO:0046777, GO:0043484, GO:0018108, protein autophosphorylation, regulation of RNA splicing, peptidyl-tyrosine phosphorylation, 807 713 1260 415 437 385 378 242 312 ENSG00000113248 chr5 141245349 141249365 + PCDHB15 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56121 GO:0032391, GO:0005887, photoreceptor connecting cilium, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000113249 chr5 157029413 157059119 - HAVCR1 protein_coding The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 12 and 19. [provided by RefSeq, Apr 2015]. 26762 GO:0031514, GO:0016021, GO:0009986, motile cilium, integral component of membrane, cell surface, GO:0001786, GO:0001618, GO:0001618, phosphatidylserine binding, virus receptor activity, virus receptor activity, GO:0046718, GO:0033005, GO:0006911, viral entry into host cell, positive regulation of mast cell activation, phagocytosis, engulfment, 1 1 2 1 0 0 5 0 14 ENSG00000113262 chr5 178977587 178996206 - GRM6 protein_coding L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018]. 2916 GO:0045202, GO:0035841, GO:0030425, GO:0005887, GO:0005887, GO:0005886, GO:0005789, GO:0000139, synapse, new growing cell tip, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0042803, GO:0008066, GO:0008066, GO:0008066, GO:0005515, GO:0004930, GO:0001642, protein homodimerization activity, glutamate receptor activity, glutamate receptor activity, glutamate receptor activity, protein binding, G protein-coupled receptor activity, group III metabotropic glutamate receptor activity, GO:0090280, GO:0060041, GO:0051966, GO:0050908, GO:0009584, GO:0007626, GO:0007268, GO:0007216, GO:0007216, GO:0007196, GO:0007186, positive regulation of calcium ion import, retina development in camera-type eye, regulation of synaptic transmission, glutamatergic, detection of light stimulus involved in visual perception, detection of visible light, locomotory behavior, chemical synaptic transmission, G protein-coupled glutamate receptor signaling pathway, G protein-coupled glutamate receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000113263 chr5 157142933 157255191 + ITK protein_coding This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]. 3702 GO:0005911, GO:0005829, GO:0005634, cell-cell junction, cytosol, nucleus, GO:0046872, GO:0005524, GO:0005515, GO:0004715, GO:0004715, metal ion binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, GO:0050853, GO:0050852, GO:0050852, GO:0050852, GO:0046629, GO:0042110, GO:0038095, GO:0038083, GO:0035556, GO:0032633, GO:0032609, GO:0007202, GO:0007165, GO:0006968, GO:0002250, GO:0002250, GO:0001865, GO:0001816, B cell receptor signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, gamma-delta T cell activation, T cell activation, Fc-epsilon receptor signaling pathway, peptidyl-tyrosine autophosphorylation, intracellular signal transduction, interleukin-4 production, interferon-gamma production, activation of phospholipase C activity, signal transduction, cellular defense response, adaptive immune response, adaptive immune response, NK T cell differentiation, cytokine production, 259 179 566 709 212 714 602 162 590 ENSG00000113269 chr5 179911651 180072118 - RNF130 protein_coding The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 55819 GO:0016021, GO:0005737, GO:0005737, integral component of membrane, cytoplasm, cytoplasm, GO:0061630, GO:0046872, GO:0004842, ubiquitin protein ligase activity, metal ion binding, ubiquitin-protein transferase activity, GO:0016567, GO:0012501, GO:0006915, GO:0006511, protein ubiquitination, programmed cell death, apoptotic process, ubiquitin-dependent protein catabolic process, 3859 3582 4179 1058 2532 1753 1581 2585 1686 ENSG00000113272 chr5 157731197 157741448 + THG1L protein_coding The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 54974 GO:1990234, GO:0005829, GO:0005739, transferase complex, cytosol, mitochondrion, GO:0042802, GO:0016779, GO:0008193, GO:0008193, GO:0008193, GO:0005525, GO:0005524, GO:0005515, GO:0005085, GO:0000287, GO:0000049, identical protein binding, nucleotidyltransferase activity, tRNA guanylyltransferase activity, tRNA guanylyltransferase activity, tRNA guanylyltransferase activity, GTP binding, ATP binding, protein binding, guanyl-nucleotide exchange factor activity, magnesium ion binding, tRNA binding, GO:1990046, GO:0099116, GO:0051289, GO:0008053, GO:0008033, GO:0008033, GO:0006979, GO:0006400, GO:0006400, stress-induced mitochondrial fusion, tRNA 5'-end processing, protein homotetramerization, mitochondrial fusion, tRNA processing, tRNA processing, response to oxidative stress, tRNA modification, tRNA modification, 5 10 7 22 11 12 21 5 9 ENSG00000113273 chr5 78777209 78986087 - ARSB protein_coding Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]. 411 GO:1904813, GO:0070062, GO:0043202, GO:0035578, GO:0009986, GO:0005794, GO:0005791, GO:0005788, GO:0005764, GO:0005739, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, lysosomal lumen, azurophil granule lumen, cell surface, Golgi apparatus, rough endoplasmic reticulum, endoplasmic reticulum lumen, lysosome, mitochondrion, extracellular region, GO:0046872, GO:0004065, GO:0003943, metal ion binding, arylsulfatase activity, N-acetylgalactosamine-4-sulfatase activity, GO:0061580, GO:0051597, GO:0043627, GO:0043312, GO:0030207, GO:0010976, GO:0010632, GO:0009268, GO:0007584, GO:0007417, GO:0007041, GO:0007040, GO:0006914, colon epithelial cell migration, response to methylmercury, response to estrogen, neutrophil degranulation, chondroitin sulfate catabolic process, positive regulation of neuron projection development, regulation of epithelial cell migration, response to pH, response to nutrient, central nervous system development, lysosomal transport, lysosome organization, autophagy, 135 144 188 64 55 109 76 53 81 ENSG00000113282 chr5 157785743 157859175 - CLINT1 protein_coding This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]. 9685 GO:0048471, GO:0043231, GO:0043231, GO:0030125, GO:0016020, GO:0005886, GO:0005829, GO:0005794, GO:0005768, GO:0005654, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, clathrin vesicle coat, membrane, plasma membrane, cytosol, Golgi apparatus, endosome, nucleoplasm, GO:0045296, GO:0030276, GO:0030276, GO:0005543, GO:0005515, cadherin binding, clathrin binding, clathrin binding, phospholipid binding, protein binding, GO:0006897, endocytosis, 531 664 1051 360 582 683 479 381 468 ENSG00000113296 chr5 79991311 80083287 + THBS4 protein_coding The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 7060 GO:0070062, GO:0062023, GO:0062023, GO:0016529, GO:0005783, GO:0005615, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, sarcoplasmic reticulum, endoplasmic reticulum, extracellular space, basement membrane, extracellular region, GO:0008201, GO:0008083, GO:0005515, GO:0005509, GO:0005178, heparin binding, growth factor activity, protein binding, calcium ion binding, integrin binding, GO:0090023, GO:0071603, GO:0051781, GO:0051451, GO:0050731, GO:0048771, GO:0048266, GO:0034976, GO:0034976, GO:0034103, GO:0016525, GO:0007165, GO:0006986, GO:0001938, positive regulation of neutrophil chemotaxis, endothelial cell-cell adhesion, positive regulation of cell division, myoblast migration, positive regulation of peptidyl-tyrosine phosphorylation, tissue remodeling, behavioral response to pain, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, regulation of tissue remodeling, negative regulation of angiogenesis, signal transduction, response to unfolded protein, positive regulation of endothelial cell proliferation, 6 24 25 10 3 16 5 6 8 ENSG00000113300 chr5 180494412 180578405 + CNOT6 protein_coding This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]. 57472 GO:0030014, GO:0030014, GO:0016020, GO:0005829, GO:0005737, GO:0005634, CCR4-NOT complex, CCR4-NOT complex, membrane, cytosol, cytoplasm, nucleus, GO:0046872, GO:0005515, GO:0004535, GO:0004535, GO:0004535, GO:0004532, GO:0003723, GO:0000175, metal ion binding, protein binding, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, exoribonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0070966, GO:0043928, GO:0035195, GO:0010606, GO:0008284, GO:0006977, GO:0006417, GO:0000289, GO:0000289, GO:0000289, RNA phosphodiester bond hydrolysis, exonucleolytic, nuclear-transcribed mRNA catabolic process, no-go decay, exonucleolytic catabolism of deadenylated mRNA, gene silencing by miRNA, positive regulation of cytoplasmic mRNA processing body assembly, positive regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of translation, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, 303 354 435 231 273 279 193 233 269 ENSG00000113302 chr5 159314783 159330887 - IL12B protein_coding This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]. 3593 GO:0070743, GO:0070743, GO:0043514, GO:0043514, GO:0043235, GO:0031906, GO:0009897, GO:0005829, GO:0005788, GO:0005615, GO:0005576, interleukin-23 complex, interleukin-23 complex, interleukin-12 complex, interleukin-12 complex, receptor complex, late endosome lumen, external side of plasma membrane, cytosol, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0046982, GO:0045519, GO:0044877, GO:0042802, GO:0042164, GO:0042164, GO:0019955, GO:0008083, GO:0005515, GO:0005143, GO:0005143, GO:0005125, GO:0004896, protein heterodimerization activity, interleukin-23 receptor binding, protein-containing complex binding, identical protein binding, interleukin-12 alpha subunit binding, interleukin-12 alpha subunit binding, cytokine binding, growth factor activity, protein binding, interleukin-12 receptor binding, interleukin-12 receptor binding, cytokine activity, cytokine receptor activity, GO:2000330, GO:2000318, GO:1903588, GO:1901224, GO:1900747, GO:0071346, GO:0071222, GO:0051607, GO:0051142, GO:0051135, GO:0051135, GO:0050829, GO:0050729, GO:0050709, GO:0050671, GO:0048662, GO:0045785, GO:0045672, GO:0043382, GO:0042832, GO:0042531, GO:0042509, GO:0042104, GO:0042102, GO:0042093, GO:0042088, GO:0038155, GO:0035744, GO:0035722, GO:0034393, GO:0034105, GO:0032946, GO:0032819, GO:0032816, GO:0032816, GO:0032760, GO:0032740, GO:0032735, GO:0032733, GO:0032733, GO:0032729, GO:0032729, GO:0032725, GO:0032700, GO:0032693, GO:0032609, GO:0030101, GO:0019953, GO:0019233, GO:0019221, GO:0019221, GO:0016477, GO:0010536, GO:0010224, GO:0008283, GO:0007050, GO:0002862, GO:0002860, GO:0002827, GO:0002827, GO:0002323, GO:0002230, GO:0002230, GO:0001916, GO:0001817, positive regulation of T-helper 17 cell lineage commitment, positive regulation of T-helper 17 type immune response, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of NIK/NF-kappaB signaling, negative regulation of vascular endothelial growth factor signaling pathway, cellular response to interferon-gamma, cellular response to lipopolysaccharide, defense response to virus, positive regulation of NK T cell proliferation, positive regulation of NK T cell activation, positive regulation of NK T cell activation, defense response to Gram-negative bacterium, positive regulation of inflammatory response, negative regulation of protein secretion, positive regulation of lymphocyte proliferation, negative regulation of smooth muscle cell proliferation, positive regulation of cell adhesion, positive regulation of osteoclast differentiation, positive regulation of memory T cell differentiation, defense response to protozoan, positive regulation of tyrosine phosphorylation of STAT protein, regulation of tyrosine phosphorylation of STAT protein, positive regulation of activated T cell proliferation, positive regulation of T cell proliferation, T-helper cell differentiation, T-helper 1 type immune response, interleukin-23-mediated signaling pathway, T-helper 1 cell cytokine production, interleukin-12-mediated signaling pathway, positive regulation of smooth muscle cell apoptotic process, positive regulation of tissue remodeling, positive regulation of mononuclear cell proliferation, positive regulation of natural killer cell proliferation, positive regulation of natural killer cell activation, positive regulation of natural killer cell activation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-17 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interleukin-10 production, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, positive regulation of granulocyte macrophage colony-stimulating factor production, negative regulation of interleukin-17 production, negative regulation of interleukin-10 production, interferon-gamma production, natural killer cell activation, sexual reproduction, sensory perception of pain, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cell migration, positive regulation of activation of Janus kinase activity, response to UV-B, cell population proliferation, cell cycle arrest, negative regulation of inflammatory response to antigenic stimulus, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, positive regulation of T-helper 1 type immune response, positive regulation of T-helper 1 type immune response, natural killer cell activation involved in immune response, positive regulation of defense response to virus by host, positive regulation of defense response to virus by host, positive regulation of T cell mediated cytotoxicity, regulation of cytokine production, 6 3 4 0 6 0 0 5 0 ENSG00000113303 chr5 180899077 180950906 + BTNL8 protein_coding 79908 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0050852, GO:0002250, GO:0001817, T cell receptor signaling pathway, adaptive immune response, regulation of cytokine production, 568 975 1283 393 902 723 400 911 721 ENSG00000113312 chr5 160009113 160065543 + TTC1 protein_coding This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 7265 GO:0005829, GO:0005778, cytosol, peroxisomal membrane, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:0006457, protein folding, 379 303 403 240 324 302 276 280 179 ENSG00000113318 chr5 80654648 80876460 + MSH3 protein_coding The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]. 4437 GO:0032302, GO:0032302, GO:0032300, GO:0016020, GO:0005654, GO:0005634, MutSbeta complex, MutSbeta complex, mismatch repair complex, membrane, nucleoplasm, nucleus, GO:0042803, GO:0032357, GO:0032181, GO:0032142, GO:0032139, GO:0032137, GO:0032135, GO:0030983, GO:0030983, GO:0019899, GO:0008094, GO:0005524, GO:0005515, GO:0003697, protein homodimerization activity, oxidized purine DNA binding, dinucleotide repeat insertion binding, single guanine insertion binding, dinucleotide insertion or deletion binding, guanine/thymine mispair binding, DNA insertion or deletion binding, mismatched DNA binding, mismatched DNA binding, enzyme binding, DNA-dependent ATPase activity, ATP binding, protein binding, single-stranded DNA binding, GO:0051096, GO:0051096, GO:0045910, GO:0043570, GO:0043570, GO:0043111, GO:0016447, GO:0007131, GO:0006312, GO:0006298, GO:0006298, GO:0006298, GO:0006281, GO:0000735, GO:0000710, positive regulation of helicase activity, positive regulation of helicase activity, negative regulation of DNA recombination, maintenance of DNA repeat elements, maintenance of DNA repeat elements, replication fork arrest, somatic recombination of immunoglobulin gene segments, reciprocal meiotic recombination, mitotic recombination, mismatch repair, mismatch repair, mismatch repair, DNA repair, removal of nonhomologous ends, meiotic mismatch repair, 90 65 111 77 49 106 58 37 118 ENSG00000113319 chr5 80960672 81230156 + RASGRF2 protein_coding RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]. 5924 GO:0005886, GO:0005829, GO:0005789, GO:0005783, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005516, GO:0005085, calmodulin binding, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0043065, GO:0035023, GO:0034976, GO:0007264, GO:0007186, GO:0000165, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, regulation of Rho protein signal transduction, response to endoplasmic reticulum stress, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, MAPK cascade, 34 21 52 115 26 67 81 33 85 ENSG00000113327 chr5 162000057 162162977 + GABRG2 protein_coding This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 2566 GO:1902711, GO:1902711, GO:0098794, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0032590, GO:0030659, GO:0005887, GO:0005887, GO:0005886, GABA-A receptor complex, GABA-A receptor complex, postsynapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, dendrite membrane, dendrite membrane, cytoplasmic vesicle membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0030594, GO:0022851, GO:0008503, GO:0005515, GO:0005254, GO:0005254, GO:0005237, GO:0004890, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, protein binding, chloride channel activity, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GABA-A receptor activity, GO:1904862, GO:1902476, GO:1902476, GO:0071420, GO:0060078, GO:0051932, GO:0051932, GO:0050877, GO:0042391, GO:0034220, GO:0030534, GO:0009791, GO:0007268, GO:0007214, GO:0007165, inhibitory synapse assembly, chloride transmembrane transport, chloride transmembrane transport, cellular response to histamine, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, synaptic transmission, GABAergic, nervous system process, regulation of membrane potential, ion transmembrane transport, adult behavior, post-embryonic development, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000113328 chr5 163437569 163446151 + CCNG1 protein_coding The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 900 GO:0005737, GO:0005654, GO:0005634, GO:0000307, cytoplasm, nucleoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0051301, GO:0044772, GO:0000079, cell division, mitotic cell cycle phase transition, regulation of cyclin-dependent protein serine/threonine kinase activity, 129 115 241 208 81 254 177 99 170 ENSG00000113356 chr5 90471748 90514553 + POLR3G protein_coding 10622 GO:0005829, GO:0005829, GO:0005666, GO:0005666, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytosol, cytosol, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0005515, GO:0003899, protein binding, DNA-directed 5'-3' RNA polymerase activity, GO:0051607, GO:0045089, GO:0045087, GO:0032728, GO:0032481, GO:0008283, GO:0008283, GO:0006383, GO:0006359, defense response to virus, positive regulation of innate immune response, innate immune response, positive regulation of interferon-beta production, positive regulation of type I interferon production, cell population proliferation, cell population proliferation, transcription by RNA polymerase III, regulation of transcription by RNA polymerase III, 10 10 9 10 8 2 6 12 22 ENSG00000113360 chr5 31400497 31532196 - DROSHA protein_coding This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]. 29102 GO:0070877, GO:0014069, GO:0005730, GO:0005654, GO:0005634, microprocessor complex, postsynaptic density, nucleolus, nucleoplasm, nucleus, GO:0070878, GO:0070878, GO:0070412, GO:0046872, GO:0046332, GO:0042803, GO:0017151, GO:0005515, GO:0004525, GO:0004525, GO:0003725, GO:0003723, GO:0001530, primary miRNA binding, primary miRNA binding, R-SMAD binding, metal ion binding, SMAD binding, protein homodimerization activity, DEAD/H-box RNA helicase binding, protein binding, ribonuclease III activity, ribonuclease III activity, double-stranded RNA binding, RNA binding, lipopolysaccharide binding, GO:2000628, GO:0090502, GO:0050830, GO:0050829, GO:0050727, GO:0045589, GO:0042254, GO:0031054, GO:0031053, GO:0031053, GO:0031053, GO:0030422, GO:0016075, GO:0010628, GO:0010586, GO:0006396, regulation of miRNA metabolic process, RNA phosphodiester bond hydrolysis, endonucleolytic, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, regulation of inflammatory response, regulation of regulatory T cell differentiation, ribosome biogenesis, pre-miRNA processing, primary miRNA processing, primary miRNA processing, primary miRNA processing, production of siRNA involved in RNA interference, rRNA catabolic process, positive regulation of gene expression, miRNA metabolic process, RNA processing, 25 41 69 73 41 64 71 50 76 ENSG00000113361 chr5 31193750 31329146 + CDH6 protein_coding This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011]. 1004 GO:0030054, GO:0016342, GO:0016021, GO:0005912, GO:0005886, cell junction, catenin complex, integral component of membrane, adherens junction, plasma membrane, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0034332, GO:0034332, GO:0016339, GO:0007275, GO:0007219, GO:0007156, GO:0007155, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, adherens junction organization, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, Notch signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, cell-cell junction assembly, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000113368 chr5 126776623 126837020 + LMNB1 protein_coding This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 4001 GO:0031965, GO:0031965, GO:0016363, GO:0016020, GO:0005654, GO:0005638, GO:0005637, GO:0005635, GO:0005635, GO:0005634, nuclear membrane, nuclear membrane, nuclear matrix, membrane, nucleoplasm, lamin filament, nuclear inner membrane, nuclear envelope, nuclear envelope, nucleus, GO:1990837, GO:0043274, GO:0005515, GO:0005198, sequence-specific double-stranded DNA binding, phospholipase binding, protein binding, structural molecule activity, GO:0035722, interleukin-12-mediated signaling pathway, 2619 1648 3090 771 816 911 962 759 887 ENSG00000113369 chr5 91368724 91383359 - ARRDC3 protein_coding This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]. 57561 GO:0005886, GO:0005886, GO:0005769, GO:0005768, GO:0005768, GO:0005764, GO:0005737, plasma membrane, plasma membrane, early endosome, endosome, endosome, lysosome, cytoplasm, GO:0031699, GO:0005515, beta-3 adrenergic receptor binding, protein binding, GO:0120163, GO:0090327, GO:0071878, GO:0060613, GO:0051443, GO:0043588, GO:0031651, GO:0015031, GO:0001659, negative regulation of cold-induced thermogenesis, negative regulation of locomotion involved in locomotory behavior, negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway, fat pad development, positive regulation of ubiquitin-protein transferase activity, skin development, negative regulation of heat generation, protein transport, temperature homeostasis, 9528 7257 14604 532 1187 1128 634 917 1001 ENSG00000113384 chr5 32124704 32174350 - GOLPH3 protein_coding The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008]. 64083 GO:0043231, GO:0032580, GO:0031985, GO:0031985, GO:0005886, GO:0005829, GO:0005829, GO:0005802, GO:0005802, GO:0005794, GO:0005794, GO:0005768, GO:0005758, GO:0005739, intracellular membrane-bounded organelle, Golgi cisterna membrane, Golgi cisterna, Golgi cisterna, plasma membrane, cytosol, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, Golgi apparatus, endosome, mitochondrial intermembrane space, mitochondrion, GO:0070273, GO:0070273, GO:0019899, GO:0005515, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-4-phosphate binding, enzyme binding, protein binding, GO:0090164, GO:0090161, GO:0072752, GO:0060352, GO:0050901, GO:0050714, GO:0048194, GO:0048194, GO:0045053, GO:0043066, GO:0043001, GO:0043001, GO:0032008, GO:0030032, GO:0016477, GO:0010821, GO:0010467, GO:0009306, GO:0009101, GO:0007030, GO:0007030, GO:0006890, asymmetric Golgi ribbon formation, Golgi ribbon formation, cellular response to rapamycin, cell adhesion molecule production, leukocyte tethering or rolling, positive regulation of protein secretion, Golgi vesicle budding, Golgi vesicle budding, protein retention in Golgi apparatus, negative regulation of apoptotic process, Golgi to plasma membrane protein transport, Golgi to plasma membrane protein transport, positive regulation of TOR signaling, lamellipodium assembly, cell migration, regulation of mitochondrion organization, gene expression, protein secretion, glycoprotein biosynthetic process, Golgi organization, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 766 584 838 435 514 468 491 456 379 ENSG00000113387 chr5 32531633 32604079 + SUB1 protein_coding 10923 GO:0070062, GO:0005730, GO:0005667, GO:0005667, GO:0005654, GO:0005634, extracellular exosome, nucleolus, transcription regulator complex, transcription regulator complex, nucleoplasm, nucleus, GO:0042802, GO:0005515, GO:0003723, GO:0003713, GO:0003713, GO:0003697, GO:0000978, identical protein binding, protein binding, RNA binding, transcription coactivator activity, transcription coactivator activity, single-stranded DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060395, GO:0060261, GO:0051053, GO:0006357, SMAD protein signal transduction, positive regulation of transcription initiation from RNA polymerase II promoter, negative regulation of DNA metabolic process, regulation of transcription by RNA polymerase II, 1687 1463 2003 2637 2592 3218 2704 1947 2320 ENSG00000113389 chr5 32689070 32791724 + NPR3 protein_coding This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]. 4883 GO:0070062, GO:0032991, GO:0005887, extracellular exosome, protein-containing complex, integral component of plasma membrane, GO:0042803, GO:0042562, GO:0042277, GO:0031404, GO:0017046, GO:0017046, GO:0016941, GO:0008528, GO:0005515, protein homodimerization activity, hormone binding, peptide binding, chloride ion binding, peptide hormone binding, peptide hormone binding, natriuretic peptide receptor activity, G protein-coupled peptide receptor activity, protein binding, GO:0120163, GO:0051000, GO:0048662, GO:0048015, GO:0035810, GO:0033688, GO:0030157, GO:0008217, GO:0007200, GO:0007194, GO:0007193, GO:0002158, GO:0001501, negative regulation of cold-induced thermogenesis, positive regulation of nitric-oxide synthase activity, negative regulation of smooth muscle cell proliferation, phosphatidylinositol-mediated signaling, positive regulation of urine volume, regulation of osteoblast proliferation, pancreatic juice secretion, regulation of blood pressure, phospholipase C-activating G protein-coupled receptor signaling pathway, negative regulation of adenylate cyclase activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, osteoclast proliferation, skeletal system development, 1 1 0 0 0 0 3 1 0 ENSG00000113391 chr5 93618069 94111699 - FAM172A protein_coding 83989 GO:0005783, GO:0005634, GO:0005634, endoplasmic reticulum, nucleus, nucleus, GO:0035197, GO:0005515, siRNA binding, protein binding, GO:0031048, GO:0014032, GO:0008380, GO:0006397, GO:0000381, heterochromatin assembly by small RNA, neural crest cell development, RNA splicing, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, 144 104 181 130 120 137 156 95 126 ENSG00000113396 chr5 128538013 129033642 + SLC27A6 protein_coding This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 28965 GO:0042383, GO:0016021, GO:0005886, sarcolemma, integral component of membrane, plasma membrane, GO:0047676, GO:0031957, GO:0005324, GO:0004467, GO:0000166, arachidonate-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, long-chain fatty acid transporter activity, long-chain fatty acid-CoA ligase activity, nucleotide binding, GO:0015909, GO:0001676, GO:0000038, long-chain fatty acid transport, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000113407 chr5 33440696 33469539 + TARS protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]. 6897 GO:0070062, GO:0015629, GO:0005829, GO:0005829, extracellular exosome, actin cytoskeleton, cytosol, cytosol, GO:0042802, GO:0008270, GO:0005524, GO:0005515, GO:0004829, GO:0004829, GO:0004829, GO:0000049, identical protein binding, zinc ion binding, ATP binding, protein binding, threonine-tRNA ligase activity, threonine-tRNA ligase activity, threonine-tRNA ligase activity, tRNA binding, GO:0006435, GO:0006435, GO:0006435, GO:0006418, threonyl-tRNA aminoacylation, threonyl-tRNA aminoacylation, threonyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 86 46 79 98 81 122 95 46 101 ENSG00000113430 chr5 1877413 1887236 - IRX4 protein_coding 50805 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048561, GO:0048468, GO:0030182, GO:0007507, GO:0006357, establishment of animal organ orientation, cell development, neuron differentiation, heart development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000113441 chr5 96935394 97037515 + LNPEP protein_coding This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 4012 GO:0048471, GO:0031905, GO:0030659, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005765, GO:0005737, GO:0005576, perinuclear region of cytoplasm, early endosome lumen, cytoplasmic vesicle membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, lysosomal membrane, cytoplasm, extracellular region, GO:0070006, GO:0042277, GO:0008270, GO:0008237, GO:0005515, GO:0004177, GO:0004177, metalloaminopeptidase activity, peptide binding, zinc ion binding, metallopeptidase activity, protein binding, aminopeptidase activity, aminopeptidase activity, GO:0120163, GO:0060395, GO:0043171, GO:0030163, GO:0008217, GO:0007565, GO:0007267, GO:0007165, GO:0006508, GO:0002480, GO:0000209, negative regulation of cold-induced thermogenesis, SMAD protein signal transduction, peptide catabolic process, protein catabolic process, regulation of blood pressure, female pregnancy, cell-cell signaling, signal transduction, proteolysis, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, protein polyubiquitination, 1020 785 1094 568 522 649 700 380 596 ENSG00000113448 chr5 58969038 60522120 - PDE4D protein_coding This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009]. 5144 GO:0048471, GO:0034704, GO:0016324, GO:0005891, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005813, GO:0005634, perinuclear region of cytoplasm, calcium channel complex, apical plasma membrane, voltage-gated calcium channel complex, plasma membrane, cytosol, cytosol, cytosol, centrosome, nucleus, GO:0097110, GO:0051117, GO:0051117, GO:0046872, GO:0044325, GO:0044325, GO:0044325, GO:0031698, GO:0030552, GO:0019899, GO:0008144, GO:0005515, GO:0004115, GO:0004115, GO:0004115, GO:0004114, GO:0004114, scaffold protein binding, ATPase binding, ATPase binding, metal ion binding, ion channel binding, ion channel binding, ion channel binding, beta-2 adrenergic receptor binding, cAMP binding, enzyme binding, drug binding, protein binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:1901898, GO:1901844, GO:0086024, GO:0086004, GO:0086004, GO:0071875, GO:0071872, GO:0071222, GO:0061028, GO:0060314, GO:0050852, GO:0045822, GO:0043951, GO:0043951, GO:0035264, GO:0033137, GO:0032754, GO:0032743, GO:0032729, GO:0030593, GO:0019933, GO:0010880, GO:0010469, GO:0007568, GO:0007186, GO:0007165, GO:0006939, GO:0006198, GO:0006198, GO:0002027, negative regulation of relaxation of cardiac muscle, regulation of cell communication by electrical coupling involved in cardiac conduction, adenylate cyclase-activating adrenergic receptor signaling pathway involved in positive regulation of heart rate, regulation of cardiac muscle cell contraction, regulation of cardiac muscle cell contraction, adrenergic receptor signaling pathway, cellular response to epinephrine stimulus, cellular response to lipopolysaccharide, establishment of endothelial barrier, regulation of ryanodine-sensitive calcium-release channel activity, T cell receptor signaling pathway, negative regulation of heart contraction, negative regulation of cAMP-mediated signaling, negative regulation of cAMP-mediated signaling, multicellular organism growth, negative regulation of peptidyl-serine phosphorylation, positive regulation of interleukin-5 production, positive regulation of interleukin-2 production, positive regulation of interferon-gamma production, neutrophil chemotaxis, cAMP-mediated signaling, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of signaling receptor activity, aging, G protein-coupled receptor signaling pathway, signal transduction, smooth muscle contraction, cAMP catabolic process, cAMP catabolic process, regulation of heart rate, 454 306 716 266 60 245 281 71 189 ENSG00000113456 chr5 34905264 34918989 - RAD1 protein_coding This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]. 5810 GO:0043231, GO:0030896, GO:0005694, GO:0005654, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, checkpoint clamp complex, chromosome, nucleoplasm, nucleoplasm, nucleus, GO:0008853, GO:0008408, GO:0008408, GO:0005515, GO:0003684, exodeoxyribonuclease III activity, 3'-5' exonuclease activity, 3'-5' exonuclease activity, protein binding, damaged DNA binding, GO:1901796, GO:0090305, GO:0071479, GO:0051598, GO:0021762, GO:0006974, GO:0006281, GO:0006260, GO:0000077, GO:0000077, regulation of signal transduction by p53 class mediator, nucleic acid phosphodiester bond hydrolysis, cellular response to ionizing radiation, meiotic recombination checkpoint, substantia nigra development, cellular response to DNA damage stimulus, DNA repair, DNA replication, DNA damage checkpoint, DNA damage checkpoint, 39 37 69 80 47 70 75 43 82 ENSG00000113460 chr5 34915376 34925996 + BRIX1 protein_coding 55299 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0000027, ribosomal large subunit assembly, 19 32 50 58 22 45 52 24 72 ENSG00000113492 chr5 34998101 35048135 - AGXT2 protein_coding The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 64902 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0047305, GO:0030170, GO:0008453, (R)-3-amino-2-methylpropionate-pyruvate transaminase activity, pyridoxal phosphate binding, alanine-glyoxylate transaminase activity, GO:0046487, GO:0045429, GO:0045429, GO:0019481, GO:0019481, GO:0019265, GO:0009436, GO:0009436, glyoxylate metabolic process, positive regulation of nitric oxide biosynthetic process, positive regulation of nitric oxide biosynthetic process, L-alanine catabolic process, by transamination, L-alanine catabolic process, by transamination, glycine biosynthetic process, by transamination of glyoxylate, glyoxylate catabolic process, glyoxylate catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000113494 chr5 35048756 35230589 - PRLR protein_coding This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]. 5618 GO:0043235, GO:0031904, GO:0016021, GO:0009986, GO:0009897, GO:0005886, GO:0005576, receptor complex, endosome lumen, integral component of membrane, cell surface, external side of plasma membrane, plasma membrane, extracellular region, GO:0046872, GO:0019955, GO:0017046, GO:0017046, GO:0005515, GO:0005127, GO:0004925, GO:0004925, GO:0004924, GO:0004923, GO:0004896, metal ion binding, cytokine binding, peptide hormone binding, peptide hormone binding, protein binding, ciliary neurotrophic factor receptor binding, prolactin receptor activity, prolactin receptor activity, oncostatin-M receptor activity, leukemia inhibitory factor receptor activity, cytokine receptor activity, GO:0120162, GO:0060397, GO:0048861, GO:0043066, GO:0042976, GO:0038165, GO:0038161, GO:0019221, GO:0008284, GO:0007595, GO:0007566, GO:0007171, GO:0006694, positive regulation of cold-induced thermogenesis, growth hormone receptor signaling pathway via JAK-STAT, leukemia inhibitory factor signaling pathway, negative regulation of apoptotic process, activation of Janus kinase activity, oncostatin-M-mediated signaling pathway, prolactin signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, lactation, embryo implantation, activation of transmembrane receptor protein tyrosine kinase activity, steroid biosynthetic process, 0 1 1 5 5 0 0 1 0 ENSG00000113504 chr5 1050376 1112035 - SLC12A7 protein_coding 10723 GO:0045202, GO:0032991, GO:0005887, GO:0005886, synapse, protein-containing complex, integral component of plasma membrane, plasma membrane, GO:0019901, GO:0015379, GO:0008519, protein kinase binding, potassium:chloride symporter activity, ammonium transmembrane transporter activity, GO:1990573, GO:1902476, GO:0140157, GO:0055075, GO:0055064, GO:0007268, GO:0006884, GO:0006811, potassium ion import across plasma membrane, chloride transmembrane transport, ammonium import across plasma membrane, potassium ion homeostasis, chloride ion homeostasis, chemical synaptic transmission, cell volume homeostasis, ion transport, 9 23 7 39 16 18 32 19 15 ENSG00000113520 chr5 132673986 132682676 + IL4 protein_coding The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. IL4 is considered an important cytokine for tissue repair, counterbalancing the effects of proinflammatory type 1 cytokines, however, it also promotes allergic airway inflammation. Moreover, IL-4, a type 2 cytokine, mediates and regulates a variety of human host responses such as allergic, anti-parasitic, wound healing, and acute inflammation. This cytokine has been reported to promote resolution of neutrophil-mediated acute lung injury. In an allergic response, IL-4 has an essential role in the production of allergen-specific immunoglobin (Ig) E. This pro-inflammatory cytokine has been observed to be increased in COVID-19 (Coronavirus disease 2019) patients, but is not necessarily associated with severe COVID-19 pathology. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]. 3565 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005136, GO:0005125, growth factor activity, protein binding, interleukin-4 receptor binding, cytokine activity, GO:2001237, GO:2001171, GO:2000424, GO:2000352, GO:2000352, GO:2000320, GO:1903845, GO:1903660, GO:1903660, GO:1901857, GO:1901741, GO:1900223, GO:1900223, GO:0150079, GO:0150076, GO:0120162, GO:0097192, GO:0097028, GO:0071677, GO:0050776, GO:0050728, GO:0048304, GO:0048304, GO:0048295, GO:0048295, GO:0048260, GO:0048260, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045671, GO:0045582, GO:0045582, GO:0045348, GO:0045348, GO:0045191, GO:0045064, GO:0043306, GO:0043066, GO:0043031, GO:0043011, GO:0043011, GO:0042976, GO:0042976, GO:0042531, GO:0042531, GO:0042325, GO:0042116, GO:0042110, GO:0042102, GO:0042092, GO:0035745, GO:0035745, GO:0032736, GO:0032736, GO:0032733, GO:0032733, GO:0032720, GO:0031296, GO:0030890, GO:0030335, GO:0030183, GO:0019221, GO:0016239, GO:0016239, GO:0010633, GO:0010633, GO:0010628, GO:0010628, GO:0008284, GO:0008284, GO:0008203, GO:0006955, GO:0002677, GO:0002674, GO:0002230, GO:0002227, GO:0001774, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of ATP biosynthetic process, positive regulation of eosinophil chemotaxis, negative regulation of endothelial cell apoptotic process, negative regulation of endothelial cell apoptotic process, negative regulation of T-helper 17 cell differentiation, negative regulation of cellular response to transforming growth factor beta stimulus, negative regulation of complement-dependent cytotoxicity, negative regulation of complement-dependent cytotoxicity, positive regulation of cellular respiration, positive regulation of myoblast fusion, positive regulation of amyloid-beta clearance, positive regulation of amyloid-beta clearance, negative regulation of neuroinflammatory response, neuroinflammatory response, positive regulation of cold-induced thermogenesis, extrinsic apoptotic signaling pathway in absence of ligand, dendritic cell differentiation, positive regulation of mononuclear cell migration, regulation of immune response, negative regulation of inflammatory response, positive regulation of isotype switching to IgG isotypes, positive regulation of isotype switching to IgG isotypes, positive regulation of isotype switching to IgE isotypes, positive regulation of isotype switching to IgE isotypes, positive regulation of receptor-mediated endocytosis, positive regulation of receptor-mediated endocytosis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of osteoclast differentiation, positive regulation of T cell differentiation, positive regulation of T cell differentiation, positive regulation of MHC class II biosynthetic process, positive regulation of MHC class II biosynthetic process, regulation of isotype switching, T-helper 2 cell differentiation, positive regulation of mast cell degranulation, negative regulation of apoptotic process, negative regulation of macrophage activation, myeloid dendritic cell differentiation, myeloid dendritic cell differentiation, activation of Janus kinase activity, activation of Janus kinase activity, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, regulation of phosphorylation, macrophage activation, T cell activation, positive regulation of T cell proliferation, type 2 immune response, T-helper 2 cell cytokine production, T-helper 2 cell cytokine production, positive regulation of interleukin-13 production, positive regulation of interleukin-13 production, positive regulation of interleukin-10 production, positive regulation of interleukin-10 production, negative regulation of tumor necrosis factor production, B cell costimulation, positive regulation of B cell proliferation, positive regulation of cell migration, B cell differentiation, cytokine-mediated signaling pathway, positive regulation of macroautophagy, positive regulation of macroautophagy, negative regulation of epithelial cell migration, negative regulation of epithelial cell migration, positive regulation of gene expression, positive regulation of gene expression, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cholesterol metabolic process, immune response, negative regulation of chronic inflammatory response, negative regulation of acute inflammatory response, positive regulation of defense response to virus by host, innate immune response in mucosa, microglial cell activation, negative regulation of transcription by RNA polymerase II, 0 1 0 0 0 0 0 2 0 ENSG00000113522 chr5 132556019 132646344 + RAD50 protein_coding The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]. 10111 GO:0035861, GO:0035861, GO:0030870, GO:0030870, GO:0030870, GO:0016020, GO:0005654, GO:0000794, GO:0000785, GO:0000781, GO:0000781, GO:0000781, site of double-strand break, site of double-strand break, Mre11 complex, Mre11 complex, Mre11 complex, membrane, nucleoplasm, condensed nuclear chromosome, chromatin, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, GO:0051880, GO:0046872, GO:0043047, GO:0042802, GO:0030674, GO:0008408, GO:0008408, GO:0005524, GO:0005515, GO:0004017, GO:0003691, GO:0003678, GO:0003678, GO:0003677, GO:0000014, GO:0000014, G-quadruplex DNA binding, metal ion binding, single-stranded telomeric DNA binding, identical protein binding, protein-macromolecule adaptor activity, 3'-5' exonuclease activity, 3'-5' exonuclease activity, ATP binding, protein binding, adenylate kinase activity, double-stranded telomeric DNA binding, DNA helicase activity, DNA helicase activity, DNA binding, single-stranded DNA endodeoxyribonuclease activity, single-stranded DNA endodeoxyribonuclease activity, GO:1904354, GO:1901796, GO:0090305, GO:0070192, GO:0046940, GO:0033674, GO:0032508, GO:0032508, GO:0032206, GO:0031954, GO:0031860, GO:0016233, GO:0016032, GO:0007131, GO:0007004, GO:0007004, GO:0006974, GO:0006310, GO:0006303, GO:0006302, GO:0006281, GO:0006260, GO:0000729, GO:0000724, GO:0000723, GO:0000722, GO:0000019, negative regulation of telomere capping, regulation of signal transduction by p53 class mediator, nucleic acid phosphodiester bond hydrolysis, chromosome organization involved in meiotic cell cycle, nucleoside monophosphate phosphorylation, positive regulation of kinase activity, DNA duplex unwinding, DNA duplex unwinding, positive regulation of telomere maintenance, positive regulation of protein autophosphorylation, telomeric 3' overhang formation, telomere capping, viral process, reciprocal meiotic recombination, telomere maintenance via telomerase, telomere maintenance via telomerase, cellular response to DNA damage stimulus, DNA recombination, double-strand break repair via nonhomologous end joining, double-strand break repair, DNA repair, DNA replication, DNA double-strand break processing, double-strand break repair via homologous recombination, telomere maintenance, telomere maintenance via recombination, regulation of mitotic recombination, 5 0 2 3 4 6 6 3 0 ENSG00000113525 chr5 132541444 132556838 - IL5 protein_coding This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013]. 3567 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0008083, GO:0005515, GO:0005137, GO:0005125, growth factor activity, protein binding, interleukin-5 receptor binding, cytokine activity, GO:0071803, GO:0051091, GO:0050731, GO:0046427, GO:0045893, GO:0045645, GO:0030890, GO:0019221, GO:0006955, GO:0006954, GO:0002639, GO:0000165, positive regulation of podosome assembly, positive regulation of DNA-binding transcription factor activity, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription, DNA-templated, positive regulation of eosinophil differentiation, positive regulation of B cell proliferation, cytokine-mediated signaling pathway, immune response, inflammatory response, positive regulation of immunoglobulin production, MAPK cascade, 0 0 1 0 0 0 0 1 0 ENSG00000113532 chr5 100806935 100903266 - ST8SIA4 protein_coding The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7903 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0033691, GO:0003828, GO:0003828, sialic acid binding, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, GO:0097503, GO:0009311, GO:0009311, GO:0007399, GO:0006491, GO:0006491, GO:0006486, GO:0006486, GO:0006486, GO:0006464, GO:0001574, sialylation, oligosaccharide metabolic process, oligosaccharide metabolic process, nervous system development, N-glycan processing, N-glycan processing, protein glycosylation, protein glycosylation, protein glycosylation, cellular protein modification process, ganglioside biosynthetic process, 2453 2379 2394 1060 2278 1597 1595 1771 1300 ENSG00000113552 chr5 141991749 142013041 - GNPDA1 protein_coding Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]. 10007 GO:0070062, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, cytosol, cytoplasm, cytoplasm, GO:0042802, GO:0005515, GO:0004342, GO:0004342, identical protein binding, protein binding, glucosamine-6-phosphate deaminase activity, glucosamine-6-phosphate deaminase activity, GO:0019262, GO:0007338, GO:0006091, GO:0006048, GO:0006046, GO:0006043, GO:0006043, GO:0006043, GO:0005975, N-acetylneuraminate catabolic process, single fertilization, generation of precursor metabolites and energy, UDP-N-acetylglucosamine biosynthetic process, N-acetylglucosamine catabolic process, glucosamine catabolic process, glucosamine catabolic process, glucosamine catabolic process, carbohydrate metabolic process, 112 264 232 1436 1329 1625 1620 1142 1053 ENSG00000113555 chr5 141943585 141969741 - PCDH12 protein_coding This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]. 51294 GO:0070062, GO:0005911, GO:0005887, GO:0005886, extracellular exosome, cell-cell junction, integral component of plasma membrane, plasma membrane, GO:0005509, calcium ion binding, GO:0060711, GO:0016339, GO:0008038, GO:0007156, GO:0007155, GO:0005977, labyrinthine layer development, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, neuron recognition, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, glycogen metabolic process, 50 35 35 37 43 58 56 43 58 ENSG00000113558 chr5 134148935 134177038 - SKP1 protein_coding This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]. 6500 GO:0031519, GO:0031467, GO:0019005, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, PcG protein complex, Cul7-RING ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1990756, GO:1990444, GO:0097602, GO:0097602, GO:0019904, GO:0008013, GO:0005515, ubiquitin ligase-substrate adaptor activity, F-box domain binding, cullin family protein binding, cullin family protein binding, protein domain specific binding, beta-catenin binding, protein binding, GO:1904668, GO:1901990, GO:0070936, GO:0070498, GO:0051457, GO:0051403, GO:0050852, GO:0043687, GO:0038095, GO:0038061, GO:0035518, GO:0031146, GO:0031146, GO:0031146, GO:0016567, GO:0016055, GO:0016032, GO:0010972, GO:0010265, GO:0006879, GO:0002223, GO:0000209, GO:0000209, GO:0000086, positive regulation of ubiquitin protein ligase activity, regulation of mitotic cell cycle phase transition, protein K48-linked ubiquitination, interleukin-1-mediated signaling pathway, maintenance of protein location in nucleus, stress-activated MAPK cascade, T cell receptor signaling pathway, post-translational protein modification, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, histone H2A monoubiquitination, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, Wnt signaling pathway, viral process, negative regulation of G2/M transition of mitotic cell cycle, SCF complex assembly, cellular iron ion homeostasis, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, protein polyubiquitination, G2/M transition of mitotic cell cycle, 927 939 1076 1193 1759 1582 1266 1490 1279 ENSG00000113569 chr5 37288137 37371181 - NUP155 protein_coding Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]. 9631 GO:0044611, GO:0043657, GO:0031965, GO:0016020, GO:0005635, GO:0005635, nuclear pore inner ring, host cell, nuclear membrane, membrane, nuclear envelope, nuclear envelope, GO:0017056, GO:0005515, structural constituent of nuclear pore, protein binding, GO:1900034, GO:0086014, GO:0075733, GO:0060964, GO:0036228, GO:0019083, GO:0016925, GO:0016032, GO:0006998, GO:0006606, GO:0006409, GO:0006406, GO:0006405, GO:0006110, GO:0000972, regulation of cellular response to heat, atrial cardiac muscle cell action potential, intracellular transport of virus, regulation of gene silencing by miRNA, protein localization to nuclear inner membrane, viral transcription, protein sumoylation, viral process, nuclear envelope organization, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, regulation of glycolytic process, transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery, 91 70 117 89 65 123 91 67 111 ENSG00000113575 chr5 134194334 134226142 - PPP2CA protein_coding This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]. 5515 GO:0070062, GO:0045121, GO:0016020, GO:0015630, GO:0005886, GO:0005829, GO:0005739, GO:0005634, GO:0000922, GO:0000775, GO:0000159, GO:0000159, extracellular exosome, membrane raft, membrane, microtubule cytoskeleton, plasma membrane, cytosol, mitochondrion, nucleus, spindle pole, chromosome, centromeric region, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0106307, GO:0106306, GO:0050811, GO:0048156, GO:0046982, GO:0046872, GO:0008022, GO:0005515, GO:0004722, GO:0004722, GO:0004722, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, GABA receptor binding, tau protein binding, protein heterodimerization activity, metal ion binding, protein C-terminus binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, GO:1904528, GO:1904526, GO:0071902, GO:0070262, GO:0051321, GO:0045595, GO:0042532, GO:0040008, GO:0035970, GO:0035970, GO:0030308, GO:0030155, GO:0030111, GO:0019932, GO:0010719, GO:0010288, GO:0010288, GO:0010033, GO:0008380, GO:0007498, GO:0007084, GO:0006915, GO:0006672, GO:0006470, GO:0006355, GO:0006275, GO:0001932, GO:0000188, GO:0000184, positive regulation of microtubule binding, regulation of microtubule binding, positive regulation of protein serine/threonine kinase activity, peptidyl-serine dephosphorylation, meiotic cell cycle, regulation of cell differentiation, negative regulation of tyrosine phosphorylation of STAT protein, regulation of growth, peptidyl-threonine dephosphorylation, peptidyl-threonine dephosphorylation, negative regulation of cell growth, regulation of cell adhesion, regulation of Wnt signaling pathway, second-messenger-mediated signaling, negative regulation of epithelial to mesenchymal transition, response to lead ion, response to lead ion, response to organic substance, RNA splicing, mesoderm development, mitotic nuclear envelope reassembly, apoptotic process, ceramide metabolic process, protein dephosphorylation, regulation of transcription, DNA-templated, regulation of DNA replication, regulation of protein phosphorylation, inactivation of MAPK activity, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 2041 1825 2437 1651 1762 1714 1523 1459 1383 ENSG00000113578 chr5 142592178 142698070 - FGF1 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]. 2246 GO:0031012, GO:0005938, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular matrix, cell cortex, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, extracellular space, extracellular space, extracellular region, extracellular region, GO:0044548, GO:0030544, GO:0008201, GO:0008201, GO:0008083, GO:0008083, GO:0005515, GO:0005178, GO:0005104, GO:0005104, GO:0005104, S100 protein binding, Hsp70 protein binding, heparin binding, heparin binding, growth factor activity, growth factor activity, protein binding, integrin binding, fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:2000544, GO:2000347, GO:1903672, GO:1902533, GO:1901509, GO:0072163, GO:0060681, GO:0051897, GO:0051781, GO:0050679, GO:0045944, GO:0045944, GO:0045766, GO:0045542, GO:0043406, GO:0043406, GO:0042060, GO:0042060, GO:0034605, GO:0032148, GO:0030335, GO:0030335, GO:0030334, GO:0030324, GO:0030154, GO:0010628, GO:0010595, GO:0010595, GO:0009887, GO:0009653, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0008284, GO:0007275, GO:0007165, GO:0001934, GO:0001759, GO:0001525, GO:0000187, GO:0000165, regulation of endothelial cell chemotaxis to fibroblast growth factor, positive regulation of hepatocyte proliferation, positive regulation of sprouting angiogenesis, positive regulation of intracellular signal transduction, regulation of endothelial tube morphogenesis, mesonephric epithelium development, branch elongation involved in ureteric bud branching, positive regulation of protein kinase B signaling, positive regulation of cell division, positive regulation of epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of cholesterol biosynthetic process, positive regulation of MAP kinase activity, positive regulation of MAP kinase activity, wound healing, wound healing, cellular response to heat, activation of protein kinase B activity, positive regulation of cell migration, positive regulation of cell migration, regulation of cell migration, lung development, cell differentiation, positive regulation of gene expression, positive regulation of endothelial cell migration, positive regulation of endothelial cell migration, animal organ morphogenesis, anatomical structure morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, multicellular organism development, signal transduction, positive regulation of protein phosphorylation, organ induction, angiogenesis, activation of MAPK activity, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000113580 chr5 143277931 143435512 - NR3C1 protein_coding This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]. 2908 GO:0032991, GO:0016607, GO:0005829, GO:0005829, GO:0005819, GO:0005815, GO:0005759, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, nuclear speck, cytosol, cytosol, spindle, microtubule organizing center, mitochondrial matrix, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:1990239, GO:0051879, GO:0019901, GO:0008270, GO:0005515, GO:0005496, GO:0004883, GO:0004879, GO:0004879, GO:0003723, GO:0003700, GO:0001228, GO:0001227, GO:0001046, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, steroid hormone binding, Hsp90 protein binding, protein kinase binding, zinc ion binding, protein binding, steroid binding, glucocorticoid receptor activity, nuclear receptor activity, nuclear receptor activity, RNA binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, core promoter sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1902895, GO:0071560, GO:0071549, GO:0071385, GO:0071383, GO:0051301, GO:0045944, GO:0045944, GO:0045892, GO:0043402, GO:0042921, GO:0030518, GO:0007165, GO:0007059, GO:0007049, GO:0006915, GO:0006367, GO:0006357, GO:0006355, GO:0006325, GO:0000122, GO:0000122, positive regulation of pri-miRNA transcription by RNA polymerase II, cellular response to transforming growth factor beta stimulus, cellular response to dexamethasone stimulus, cellular response to glucocorticoid stimulus, cellular response to steroid hormone stimulus, cell division, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, glucocorticoid mediated signaling pathway, glucocorticoid receptor signaling pathway, intracellular steroid hormone receptor signaling pathway, signal transduction, chromosome segregation, cell cycle, apoptotic process, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin organization, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2556 2747 3633 1031 1715 1400 1062 1353 1326 ENSG00000113583 chr5 133955502 133968787 - C5orf15 protein_coding 56951 GO:0016021, integral component of membrane, 210 222 228 70 163 94 58 147 117 ENSG00000113593 chr5 65563236 65587549 + PPWD1 protein_coding 23398 GO:0071013, GO:0016604, GO:0005654, catalytic step 2 spliceosome, nuclear body, nucleoplasm, GO:0016018, GO:0003755, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:0000413, GO:0000413, GO:0000398, GO:0000398, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 275 310 412 362 371 375 349 320 367 ENSG00000113594 chr5 38474963 38608354 - LIFR protein_coding This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]. 3977 GO:0070062, GO:0043235, GO:0043235, GO:0009897, GO:0005887, GO:0005886, extracellular exosome, receptor complex, receptor complex, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019955, GO:0019838, GO:0005515, GO:0005127, GO:0005127, GO:0004924, GO:0004924, GO:0004923, GO:0004923, GO:0004923, GO:0004897, GO:0004896, cytokine binding, growth factor binding, protein binding, ciliary neurotrophic factor receptor binding, ciliary neurotrophic factor receptor binding, oncostatin-M receptor activity, oncostatin-M receptor activity, leukemia inhibitory factor receptor activity, leukemia inhibitory factor receptor activity, leukemia inhibitory factor receptor activity, ciliary neurotrophic factor receptor activity, cytokine receptor activity, GO:0070120, GO:0048861, GO:0038165, GO:0034097, GO:0019221, GO:0019221, GO:0019221, GO:0008284, GO:0008284, GO:0007166, GO:0001959, ciliary neurotrophic factor-mediated signaling pathway, leukemia inhibitory factor signaling pathway, oncostatin-M-mediated signaling pathway, response to cytokine, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell surface receptor signaling pathway, regulation of cytokine-mediated signaling pathway, 0 0 2 0 0 0 0 0 0 ENSG00000113595 chr5 65589680 65625975 - TRIM23 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]. 373 GO:0005886, GO:0005765, GO:0005765, GO:0005737, GO:0005634, GO:0000139, plasma membrane, lysosomal membrane, lysosomal membrane, cytoplasm, nucleus, Golgi membrane, GO:0042802, GO:0019003, GO:0008270, GO:0008047, GO:0005525, GO:0005525, GO:0005515, GO:0004842, GO:0003924, identical protein binding, GDP binding, zinc ion binding, enzyme activator activity, GTP binding, GTP binding, protein binding, ubiquitin-protein transferase activity, GTPase activity, GO:0045087, GO:0043085, GO:0016567, GO:0016567, GO:0016192, GO:0016032, GO:0006886, innate immune response, positive regulation of catalytic activity, protein ubiquitination, protein ubiquitination, vesicle-mediated transport, viral process, intracellular protein transport, 129 204 186 128 264 209 198 201 169 ENSG00000113597 chr5 65624716 65666233 + TRAPPC13 protein_coding 80006 GO:1990072, GO:0005829, TRAPPIII protein complex, cytosol, GO:0005515, protein binding, 77 59 107 74 71 107 85 50 67 ENSG00000113600 chr5 39284262 39424868 - C9 protein_coding This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]. 735 GO:0072562, GO:0070062, GO:0044218, GO:0005886, GO:0005615, GO:0005579, GO:0005576, blood microparticle, extracellular exosome, other organism cell membrane, plasma membrane, extracellular space, membrane attack complex, extracellular region, GO:0005515, protein binding, GO:0051260, GO:0030449, GO:0019835, GO:0006958, GO:0006957, GO:0001906, protein homooligomerization, regulation of complement activation, cytolysis, complement activation, classical pathway, complement activation, alternative pathway, cell killing, 0 0 0 0 0 0 0 0 0 ENSG00000113615 chr5 134648789 134727823 + SEC24A protein_coding The protein encoded by this gene belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 10802 GO:0070971, GO:0030127, GO:0030127, GO:0012507, GO:0005829, GO:0005789, GO:0000139, endoplasmic reticulum exit site, COPII vesicle coat, COPII vesicle coat, ER to Golgi transport vesicle membrane, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0008270, GO:0008270, GO:0005515, GO:0000149, zinc ion binding, zinc ion binding, protein binding, SNARE binding, GO:0090110, GO:0090110, GO:0050714, GO:0048208, GO:0042632, GO:0019886, GO:0006888, GO:0006888, GO:0006886, GO:0002474, COPII-coated vesicle cargo loading, COPII-coated vesicle cargo loading, positive regulation of protein secretion, COPII vesicle coating, cholesterol homeostasis, antigen processing and presentation of exogenous peptide antigen via MHC class II, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, antigen processing and presentation of peptide antigen via MHC class I, 293 283 724 237 192 368 227 134 238 ENSG00000113621 chr5 134873803 134901525 + TXNDC15 protein_coding This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]. 79770 GO:0060170, GO:0016021, GO:0005929, GO:0005929, ciliary membrane, integral component of membrane, cilium, cilium, GO:0005515, protein binding, GO:0060271, GO:0060271, GO:0045880, cilium assembly, cilium assembly, positive regulation of smoothened signaling pathway, 94 92 87 73 104 98 47 66 76 ENSG00000113638 chr5 40512333 40755975 - TTC33 protein_coding 23548 GO:0005515, protein binding, 49 43 62 41 67 26 42 57 65 ENSG00000113643 chr5 168486445 168519299 + RARS protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]. 5917 GO:0070062, GO:0017101, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, aminoacyl-tRNA synthetase multienzyme complex, membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0045296, GO:0034618, GO:0005524, GO:0005515, GO:0004814, GO:0004814, GO:0004814, GO:0000049, cadherin binding, arginine binding, ATP binding, protein binding, arginine-tRNA ligase activity, arginine-tRNA ligase activity, arginine-tRNA ligase activity, tRNA binding, GO:0006420, GO:0006420, GO:0006418, arginyl-tRNA aminoacylation, arginyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 48 49 77 63 73 118 52 52 79 ENSG00000113645 chr5 168291651 168472303 + WWC1 protein_coding The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 23286 GO:0048471, GO:0032991, GO:0032587, GO:0005829, GO:0005829, GO:0005737, GO:0005634, perinuclear region of cytoplasm, protein-containing complex, ruffle membrane, cytosol, cytosol, cytoplasm, nucleus, GO:0060090, GO:0019900, GO:0005515, GO:0003713, molecular adaptor activity, kinase binding, protein binding, transcription coactivator activity, GO:0046621, GO:0043410, GO:0035331, GO:0035330, GO:0035329, GO:0032386, GO:0030010, GO:0016477, GO:0007221, GO:0000122, negative regulation of organ growth, positive regulation of MAPK cascade, negative regulation of hippo signaling, regulation of hippo signaling, hippo signaling, regulation of intracellular transport, establishment of cell polarity, cell migration, positive regulation of transcription of Notch receptor target, negative regulation of transcription by RNA polymerase II, 1 1 3 0 0 0 1 1 1 ENSG00000113648 chr5 135333900 135399914 - H2AFY protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]. 9555 GO:0070062, GO:0005730, GO:0005721, GO:0005654, GO:0005634, GO:0001740, GO:0001739, GO:0000793, GO:0000786, GO:0000785, GO:0000785, GO:0000781, GO:0000228, extracellular exosome, nucleolus, pericentric heterochromatin, nucleoplasm, nucleus, Barr body, sex chromatin, condensed chromosome, nucleosome, chromatin, chromatin, chromosome, telomeric region, nuclear chromosome, GO:1990841, GO:0046982, GO:0031492, GO:0031492, GO:0031490, GO:0030291, GO:0019901, GO:0019899, GO:0010385, GO:0005515, GO:0003677, GO:0003677, GO:0000979, GO:0000977, GO:0000976, GO:0000182, promoter-specific chromatin binding, protein heterodimerization activity, nucleosomal DNA binding, nucleosomal DNA binding, chromatin DNA binding, protein serine/threonine kinase inhibitor activity, protein kinase binding, enzyme binding, double-stranded methylated DNA binding, protein binding, DNA binding, DNA binding, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, rDNA binding, GO:1904815, GO:1903226, GO:1902882, GO:1902750, GO:1901837, GO:1901837, GO:0071901, GO:0071169, GO:0061187, GO:0061086, GO:0051572, GO:0045815, GO:0045814, GO:0045618, GO:0040029, GO:0034184, GO:0033128, GO:0019216, GO:0007549, GO:0006342, GO:0006334, GO:0000122, negative regulation of protein localization to chromosome, telomeric region, positive regulation of endodermal cell differentiation, regulation of response to oxidative stress, negative regulation of cell cycle G2/M phase transition, negative regulation of transcription of nucleolar large rRNA by RNA polymerase I, negative regulation of transcription of nucleolar large rRNA by RNA polymerase I, negative regulation of protein serine/threonine kinase activity, establishment of protein localization to chromatin, regulation of ribosomal DNA heterochromatin assembly, negative regulation of histone H3-K27 methylation, negative regulation of histone H3-K4 methylation, positive regulation of gene expression, epigenetic, negative regulation of gene expression, epigenetic, positive regulation of keratinocyte differentiation, regulation of gene expression, epigenetic, positive regulation of maintenance of mitotic sister chromatid cohesion, negative regulation of histone phosphorylation, regulation of lipid metabolic process, dosage compensation, chromatin silencing, nucleosome assembly, negative regulation of transcription by RNA polymerase II, 2992 3583 4315 2227 4299 3913 2765 3429 3443 ENSG00000113649 chr5 146447311 146511961 + TCERG1 protein_coding This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 10915 GO:0016607, GO:0005654, GO:0005634, nuclear speck, nucleoplasm, nucleus, GO:0070064, GO:0070063, GO:0070063, GO:0044390, GO:0042802, GO:0005515, GO:0003723, GO:0003714, GO:0003713, GO:0003712, GO:0003711, GO:0001103, proline-rich region binding, RNA polymerase binding, RNA polymerase binding, ubiquitin-like protein conjugating enzyme binding, identical protein binding, protein binding, RNA binding, transcription corepressor activity, transcription coactivator activity, transcription coregulator activity, transcription elongation regulator activity, RNA polymerase II repressing transcription factor binding, GO:0045944, GO:0034244, GO:0032968, GO:0008380, GO:0006397, GO:0000122, positive regulation of transcription by RNA polymerase II, negative regulation of transcription elongation from RNA polymerase II promoter, positive regulation of transcription elongation from RNA polymerase II promoter, RNA splicing, mRNA processing, negative regulation of transcription by RNA polymerase II, 61 64 163 164 67 227 188 36 145 ENSG00000113657 chr5 147390811 147510056 - DPYSL3 protein_coding 1809 GO:0070382, GO:0044297, GO:0031941, GO:0030426, GO:0030027, GO:0005829, GO:0005829, GO:0005615, exocytic vesicle, cell body, filamentous actin, growth cone, lamellipodium, cytosol, cytosol, extracellular space, GO:0042802, GO:0035374, GO:0031005, GO:0017124, GO:0005515, GO:0004157, identical protein binding, chondroitin sulfate binding, filamin binding, SH3 domain binding, protein binding, dihydropyrimidinase activity, GO:0071345, GO:0051764, GO:0051764, GO:0051491, GO:0051017, GO:0048678, GO:0048666, GO:0030336, GO:0010977, GO:0010976, GO:0006208, cellular response to cytokine stimulus, actin crosslink formation, actin crosslink formation, positive regulation of filopodium assembly, actin filament bundle assembly, response to axon injury, neuron development, negative regulation of cell migration, negative regulation of neuron projection development, positive regulation of neuron projection development, pyrimidine nucleobase catabolic process, 0 0 1 6 0 4 0 0 0 ENSG00000113658 chr5 136132845 136188747 + SMAD5 protein_coding The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 4090 GO:0071144, GO:0071141, GO:0032991, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, GO:0000785, heteromeric SMAD protein complex, SMAD protein complex, protein-containing complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0070411, GO:0046872, GO:0031625, GO:0017151, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, I-SMAD binding, metal ion binding, ubiquitin protein ligase binding, DEAD/H-box RNA helicase binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901522, GO:1901522, GO:0071407, GO:0060395, GO:0060395, GO:0060395, GO:0060348, GO:0060048, GO:0051216, GO:0045893, GO:0045669, GO:0030509, GO:0030509, GO:0030509, GO:0030218, GO:0030154, GO:0009880, GO:0009653, GO:0007281, GO:0007179, GO:0007179, GO:0007165, GO:0006468, GO:0006357, GO:0002051, GO:0001880, GO:0001657, GO:0000122, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, cellular response to organic cyclic compound, SMAD protein signal transduction, SMAD protein signal transduction, SMAD protein signal transduction, bone development, cardiac muscle contraction, cartilage development, positive regulation of transcription, DNA-templated, positive regulation of osteoblast differentiation, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, erythrocyte differentiation, cell differentiation, embryonic pattern specification, anatomical structure morphogenesis, germ cell development, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, signal transduction, protein phosphorylation, regulation of transcription by RNA polymerase II, osteoblast fate commitment, Mullerian duct regression, ureteric bud development, negative regulation of transcription by RNA polymerase II, 25 42 61 56 25 66 37 21 35 ENSG00000113712 chr5 149492197 149551552 - CSNK1A1 protein_coding 1452 GO:1990904, GO:0045095, GO:0036064, GO:0030877, GO:0016607, GO:0016020, GO:0005929, GO:0005847, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005634, GO:0000777, ribonucleoprotein complex, keratin filament, ciliary basal body, beta-catenin destruction complex, nuclear speck, membrane, cilium, mRNA cleavage and polyadenylation specificity factor complex, cytosol, cytosol, centrosome, cytoplasm, nucleus, condensed chromosome kinetochore, GO:0106311, GO:0106310, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0004672, protein threonine kinase activity, protein serine kinase activity, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, GO:1904886, GO:1904885, GO:1904424, GO:0090090, GO:0090090, GO:0090090, GO:0051301, GO:0045104, GO:0032436, GO:0032436, GO:0018105, GO:0018105, GO:0018105, GO:0016055, GO:0007166, GO:0007165, GO:0007049, GO:0007030, GO:0006468, GO:0000902, beta-catenin destruction complex disassembly, beta-catenin destruction complex assembly, regulation of GTP binding, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, cell division, intermediate filament cytoskeleton organization, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, cell surface receptor signaling pathway, signal transduction, cell cycle, Golgi organization, protein phosphorylation, cell morphogenesis, 1501 1287 2500 668 952 1140 767 906 1041 ENSG00000113716 chr5 150000046 150053142 + HMGXB3 protein_coding This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]. 22993 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0003677, DNA binding, GO:0008150, biological_process, 54 57 101 106 66 160 76 41 70 ENSG00000113719 chr5 172834275 172952685 + ERGIC1 protein_coding This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]. 57222 GO:0043231, GO:0033116, GO:0030176, GO:0030173, GO:0030134, GO:0016020, GO:0016020, GO:0005793, GO:0005783, GO:0005654, intracellular membrane-bounded organelle, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, COPII-coated ER to Golgi transport vesicle, membrane, membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, nucleoplasm, GO:0005515, protein binding, GO:0006890, GO:0006888, GO:0006888, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 4794 6076 5876 1807 4296 2726 2224 3617 2386 ENSG00000113721 chr5 150113837 150155872 - PDGFRB protein_coding The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]. 5159 GO:0043235, GO:0043231, GO:0043202, GO:0031410, GO:0031226, GO:0016324, GO:0016020, GO:0016020, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005794, GO:0005737, GO:0005634, GO:0001726, receptor complex, intracellular membrane-bounded organelle, lysosomal lumen, cytoplasmic vesicle, intrinsic component of plasma membrane, apical plasma membrane, membrane, membrane, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, Golgi apparatus, cytoplasm, nucleus, ruffle, GO:0048407, GO:0048407, GO:0048407, GO:0043548, GO:0038085, GO:0019901, GO:0019899, GO:0019838, GO:0005524, GO:0005515, GO:0005161, GO:0005102, GO:0005019, GO:0005019, GO:0005019, GO:0004992, GO:0004714, GO:0004713, platelet-derived growth factor binding, platelet-derived growth factor binding, platelet-derived growth factor binding, phosphatidylinositol 3-kinase binding, vascular endothelial growth factor binding, protein kinase binding, enzyme binding, growth factor binding, ATP binding, protein binding, platelet-derived growth factor receptor binding, signaling receptor binding, platelet-derived growth factor beta-receptor activity, platelet-derived growth factor beta-receptor activity, platelet-derived growth factor beta-receptor activity, platelet activating factor receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2000573, GO:2000491, GO:2000379, GO:0106096, GO:0097178, GO:0090280, GO:0072284, GO:0072278, GO:0072277, GO:0072262, GO:0072075, GO:0071670, GO:0070374, GO:0070374, GO:0070301, GO:0061298, GO:0060981, GO:0060437, GO:0060326, GO:0055093, GO:0055003, GO:0051897, GO:0050921, GO:0050730, GO:0048839, GO:0048745, GO:0048705, GO:0048661, GO:0048661, GO:0048568, GO:0048146, GO:0048015, GO:0048008, GO:0046777, GO:0046488, GO:0045840, GO:0043627, GO:0043552, GO:0043406, GO:0043066, GO:0043065, GO:0042060, GO:0038091, GO:0036120, GO:0035909, GO:0035793, GO:0035791, GO:0035789, GO:0035441, GO:0035025, GO:0034405, GO:0033674, GO:0032967, GO:0032956, GO:0032526, GO:0032516, GO:0032355, GO:0030335, GO:0030325, GO:0018108, GO:0016477, GO:0014911, GO:0014911, GO:0014911, GO:0014068, GO:0010863, GO:0009636, GO:0008584, GO:0008284, GO:0007568, GO:0007275, GO:0007186, GO:0007169, GO:0007165, GO:0006024, GO:0001894, GO:0001701, GO:0000165, positive regulation of DNA biosynthetic process, positive regulation of hepatic stellate cell activation, positive regulation of reactive oxygen species metabolic process, response to ceramide, ruffle assembly, positive regulation of calcium ion import, metanephric S-shaped body morphogenesis, metanephric comma-shaped body morphogenesis, metanephric glomerular capillary formation, metanephric glomerular mesangial cell proliferation involved in metanephros development, metanephric mesenchyme development, smooth muscle cell chemotaxis, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, cellular response to hydrogen peroxide, retina vasculature development in camera-type eye, cell migration involved in coronary angiogenesis, lung growth, cell chemotaxis, response to hyperoxia, cardiac myofibril assembly, positive regulation of protein kinase B signaling, positive regulation of chemotaxis, regulation of peptidyl-tyrosine phosphorylation, inner ear development, smooth muscle tissue development, skeletal system morphogenesis, positive regulation of smooth muscle cell proliferation, positive regulation of smooth muscle cell proliferation, embryonic organ development, positive regulation of fibroblast proliferation, phosphatidylinositol-mediated signaling, platelet-derived growth factor receptor signaling pathway, protein autophosphorylation, phosphatidylinositol metabolic process, positive regulation of mitotic nuclear division, response to estrogen, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAP kinase activity, negative regulation of apoptotic process, positive regulation of apoptotic process, wound healing, positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway, cellular response to platelet-derived growth factor stimulus, aorta morphogenesis, positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway, platelet-derived growth factor receptor-beta signaling pathway, metanephric mesenchymal cell migration, cell migration involved in vasculogenesis, positive regulation of Rho protein signal transduction, response to fluid shear stress, positive regulation of kinase activity, positive regulation of collagen biosynthetic process, regulation of actin cytoskeleton organization, response to retinoic acid, positive regulation of phosphoprotein phosphatase activity, response to estradiol, positive regulation of cell migration, adrenal gland development, peptidyl-tyrosine phosphorylation, cell migration, positive regulation of smooth muscle cell migration, positive regulation of smooth muscle cell migration, positive regulation of smooth muscle cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phospholipase C activity, response to toxic substance, male gonad development, positive regulation of cell population proliferation, aging, multicellular organism development, G protein-coupled receptor signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, glycosaminoglycan biosynthetic process, tissue homeostasis, in utero embryonic development, MAPK cascade, 1 2 4 3 1 13 6 2 14 ENSG00000113722 chr5 150166795 150184558 + CDX1 protein_coding This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq, Jul 2008]. 1044 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0008327, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, methyl-CpG binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060349, GO:0045944, GO:0045944, GO:0030154, GO:0014807, GO:0009948, GO:0009887, GO:0009790, GO:0006357, bone morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cell differentiation, regulation of somitogenesis, anterior/posterior axis specification, animal organ morphogenesis, embryo development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000113732 chr5 172983757 173035445 + ATP6V0E1 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]. 8992 GO:0033179, GO:0030670, GO:0016021, GO:0010008, proton-transporting V-type ATPase, V0 domain, phagocytic vesicle membrane, integral component of membrane, endosome membrane, GO:0046961, GO:0042625, GO:0016787, GO:0005515, proton-transporting ATPase activity, rotational mechanism, ATPase-coupled ion transmembrane transporter activity, hydrolase activity, protein binding, GO:1902600, GO:0090383, GO:0055085, GO:0034220, GO:0033572, GO:0016241, GO:0008286, GO:0007035, proton transmembrane transport, phagosome acidification, transmembrane transport, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, vacuolar acidification, 1601 1430 1713 771 1453 987 897 1270 967 ENSG00000113734 chr5 173144442 173164387 + BNIP1 protein_coding This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]. 662 GO:0043231, GO:0031966, GO:0031201, GO:0031201, GO:0030176, GO:0030137, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0005737, GO:0005635, intracellular membrane-bounded organelle, mitochondrial membrane, SNARE complex, SNARE complex, integral component of endoplasmic reticulum membrane, COPI-coated vesicle, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, nuclear envelope, GO:0005515, GO:0005484, protein binding, SNAP receptor activity, GO:0097194, GO:0090649, GO:0043066, GO:0042594, GO:0016320, GO:0016032, GO:0014823, GO:0007029, GO:0006915, GO:0006890, GO:0006890, execution phase of apoptosis, response to oxygen-glucose deprivation, negative regulation of apoptotic process, response to starvation, endoplasmic reticulum membrane fusion, viral process, response to activity, endoplasmic reticulum organization, apoptotic process, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 9 11 14 13 8 18 17 3 18 ENSG00000113739 chr5 173314713 173329503 - STC2 protein_coding This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]. 8614 GO:0048471, GO:0005794, GO:0005788, GO:0005783, GO:0005615, GO:0005615, perinuclear region of cytoplasm, Golgi apparatus, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, extracellular space, GO:0042803, GO:0020037, GO:0019899, GO:0005179, protein homodimerization activity, heme binding, enzyme binding, hormone activity, GO:2001256, GO:0071456, GO:0046885, GO:0046697, GO:0044267, GO:0043687, GO:0043434, GO:0040015, GO:0033280, GO:0030968, GO:0010629, GO:0007566, GO:0006979, GO:0006874, regulation of store-operated calcium entry, cellular response to hypoxia, regulation of hormone biosynthetic process, decidualization, cellular protein metabolic process, post-translational protein modification, response to peptide hormone, negative regulation of multicellular organism growth, response to vitamin D, endoplasmic reticulum unfolded protein response, negative regulation of gene expression, embryo implantation, response to oxidative stress, cellular calcium ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000113742 chr5 173888280 173961976 + CPEB4 protein_coding 80315 GO:1990124, GO:0048471, GO:0045202, GO:0043197, GO:0043005, GO:0030426, GO:0030425, GO:0014069, GO:0005783, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005634, messenger ribonucleoprotein complex, perinuclear region of cytoplasm, synapse, dendritic spine, neuron projection, growth cone, dendrite, postsynaptic density, endoplasmic reticulum, cytoplasm, cytoplasm, cytoplasm, nucleus, nucleus, nucleus, GO:0046872, GO:0043022, GO:0008135, GO:0005515, GO:0003730, GO:0003723, GO:0000900, metal ion binding, ribosome binding, translation factor activity, RNA binding, protein binding, mRNA 3'-UTR binding, RNA binding, translation repressor activity, mRNA regulatory element binding, GO:2000766, GO:0071230, GO:0043524, GO:0042149, GO:0036294, GO:0035235, GO:0006412, GO:0002931, negative regulation of cytoplasmic translation, cellular response to amino acid stimulus, negative regulation of neuron apoptotic process, cellular response to glucose starvation, cellular response to decreased oxygen levels, ionotropic glutamate receptor signaling pathway, translation, response to ischemia, 4041 4331 5101 2081 3478 3971 2699 2809 3392 ENSG00000113749 chr5 175658030 175710756 + HRH2 protein_coding Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 3274 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004969, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, histamine receptor activity, GO:1901998, GO:0098664, GO:0048732, GO:0048565, GO:0048167, GO:0045907, GO:0008542, GO:0007613, GO:0007268, GO:0007187, GO:0007186, GO:0006955, GO:0003382, GO:0001698, GO:0001697, toxin transport, G protein-coupled serotonin receptor signaling pathway, gland development, digestive tract development, regulation of synaptic plasticity, positive regulation of vasoconstriction, visual learning, memory, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, immune response, epithelial cell morphogenesis, gastrin-induced gastric acid secretion, histamine-induced gastric acid secretion, 1726 1644 1726 967 1727 1384 1264 1368 1240 ENSG00000113758 chr5 177456608 177474401 - DBN1 protein_coding The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 1627 GO:0099524, GO:0098978, GO:0045211, GO:0042641, GO:0030864, GO:0030863, GO:0030427, GO:0030426, GO:0030425, GO:0030425, GO:0030425, GO:0030027, GO:0015629, GO:0014069, GO:0005921, GO:0005886, GO:0005884, GO:0005856, GO:0005737, GO:0005737, postsynaptic cytosol, glutamatergic synapse, postsynaptic membrane, actomyosin, cortical actin cytoskeleton, cortical cytoskeleton, site of polarized growth, growth cone, dendrite, dendrite, dendrite, lamellipodium, actin cytoskeleton, postsynaptic density, gap junction, plasma membrane, actin filament, cytoskeleton, cytoplasm, cytoplasm, GO:0051015, GO:0045296, GO:0005522, GO:0005515, GO:0003779, actin filament binding, cadherin binding, profilin binding, protein binding, actin binding, GO:1902685, GO:0098974, GO:0061351, GO:0061003, GO:0061003, GO:0051220, GO:0050773, GO:0048812, GO:0048168, GO:0045773, GO:0032507, GO:0031915, GO:0030833, GO:0010644, GO:0010643, GO:0007015, positive regulation of receptor localization to synapse, postsynaptic actin cytoskeleton organization, neural precursor cell proliferation, positive regulation of dendritic spine morphogenesis, positive regulation of dendritic spine morphogenesis, cytoplasmic sequestering of protein, regulation of dendrite development, neuron projection morphogenesis, regulation of neuronal synaptic plasticity, positive regulation of axon extension, maintenance of protein location in cell, positive regulation of synaptic plasticity, regulation of actin filament polymerization, cell communication by electrical coupling, cell communication by chemical coupling, actin filament organization, 677 625 995 372 546 727 388 346 569 ENSG00000113761 chr5 177022696 177081189 + ZNF346 protein_coding The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 23567 GO:0005737, GO:0005730, GO:0005634, cytoplasm, nucleolus, nucleus, GO:0035198, GO:0019899, GO:0008270, GO:0005515, GO:0003725, GO:0003725, GO:0003723, miRNA binding, enzyme binding, zinc ion binding, protein binding, double-stranded RNA binding, double-stranded RNA binding, RNA binding, GO:0043065, positive regulation of apoptotic process, 53 53 68 55 99 81 82 72 61 ENSG00000113763 chr5 176810477 176880898 + UNC5A protein_coding UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]. 90249 GO:0045121, GO:0032809, GO:0032589, GO:0031226, GO:0016021, GO:0005886, membrane raft, neuronal cell body membrane, neuron projection membrane, intrinsic component of plasma membrane, integral component of membrane, plasma membrane, GO:0005042, netrin receptor activity, GO:0038007, GO:0033564, GO:0031175, GO:0007411, GO:0007411, GO:0006915, netrin-activated signaling pathway, anterior/posterior axon guidance, neuron projection development, axon guidance, axon guidance, apoptotic process, 11 7 10 1 8 2 10 11 14 ENSG00000113790 chr3 185190624 185281990 - EHHADH protein_coding The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 1962 GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005777, GO:0005777, cytosol, peroxisomal matrix, peroxisome, peroxisome, peroxisome, peroxisome, GO:0019899, GO:0016863, GO:0016509, GO:0016508, GO:0005515, GO:0004300, GO:0004300, GO:0004300, GO:0004165, GO:0003857, GO:0003857, GO:0003857, GO:0003857, GO:0003857, enzyme binding, intramolecular oxidoreductase activity, transposing C=C bonds, long-chain-3-hydroxyacyl-CoA dehydrogenase activity, long-chain-enoyl-CoA hydratase activity, protein binding, enoyl-CoA hydratase activity, enoyl-CoA hydratase activity, enoyl-CoA hydratase activity, dodecenoyl-CoA delta-isomerase activity, 3-hydroxyacyl-CoA dehydrogenase activity, 3-hydroxyacyl-CoA dehydrogenase activity, 3-hydroxyacyl-CoA dehydrogenase activity, 3-hydroxyacyl-CoA dehydrogenase activity, 3-hydroxyacyl-CoA dehydrogenase activity, GO:0033540, GO:0006635, GO:0006635, GO:0006635, GO:0006635, GO:0006625, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, protein targeting to peroxisome, 0 1 7 0 0 0 4 0 0 ENSG00000113805 chr3 74262568 74521140 - CNTN3 protein_coding 5067 GO:0043005, GO:0031225, GO:0005886, GO:0005576, neuron projection, anchored component of membrane, plasma membrane, extracellular region, GO:0007399, GO:0007155, nervous system development, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000113810 chr3 160399274 160434962 + SMC4 protein_coding This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]. 10051 GO:0016607, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0000796, GO:0000796, GO:0000775, nuclear speck, cytosol, cytosol, nucleoplasm, nucleus, condensin complex, condensin complex, chromosome, centromeric region, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0051383, GO:0051301, GO:0045132, GO:0010032, GO:0007076, GO:0007076, GO:0000070, kinetochore organization, cell division, meiotic chromosome segregation, meiotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, mitotic sister chromatid segregation, 978 908 1243 978 938 1367 1086 674 1000 ENSG00000113811 chr3 53884410 53891988 - SELENOK protein_coding The protein encoded by this gene belongs to the selenoprotein K family. It is a transmembrane protein that is localized in the endoplasmic reticulum (ER), and is involved in ER-associated degradation (ERAD) of misfolded, glycosylated proteins. It also has a role in the protection of cells from ER stress-induced apoptosis. Knockout studies in mice show the importance of this gene in promoting Ca(2+) flux in immune cells and mounting effective immune response. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Pseudogenes of this locus have been identified on chromosomes 6 and 19.[provided by RefSeq, Aug 2017]. 58515 GO:0016021, GO:0005886, GO:0005794, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:2000406, GO:0071639, GO:0070059, GO:0051223, GO:0050848, GO:0045728, GO:0042102, GO:0032760, GO:0032755, GO:0032469, GO:0018345, GO:0010742, GO:0006979, GO:0006816, GO:0002230, positive regulation of T cell migration, positive regulation of monocyte chemotactic protein-1 production, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, regulation of protein transport, regulation of calcium-mediated signaling, respiratory burst after phagocytosis, positive regulation of T cell proliferation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, endoplasmic reticulum calcium ion homeostasis, protein palmitoylation, macrophage derived foam cell differentiation, response to oxidative stress, calcium ion transport, positive regulation of defense response to virus by host, 1627 1486 1825 1656 1940 1971 1330 1543 1429 ENSG00000113812 chr3 53867066 53882202 - ACTR8 protein_coding 93973 GO:0031011, GO:0031011, GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0005634, Ino80 complex, Ino80 complex, centrosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0051301, GO:0043044, GO:0032508, GO:0016579, GO:0007049, GO:0006355, GO:0006310, GO:0006302, cell division, ATP-dependent chromatin remodeling, DNA duplex unwinding, protein deubiquitination, cell cycle, regulation of transcription, DNA-templated, DNA recombination, double-strand break repair, 76 61 86 57 63 131 50 54 42 ENSG00000113838 chr3 186546073 186570543 - TBCCD1 protein_coding 55171 GO:0031616, GO:0005737, spindle pole centrosome, cytoplasm, GO:0005515, protein binding, GO:0051684, GO:0051661, GO:0030334, GO:0008360, GO:0000902, maintenance of Golgi location, maintenance of centrosome location, regulation of cell migration, regulation of cell shape, cell morphogenesis, 20 17 29 49 16 33 27 12 27 ENSG00000113845 chr3 119498532 119525090 + TIMMDC1 protein_coding 51300 GO:0016021, GO:0005743, GO:0005739, GO:0005739, GO:0005654, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0005515, protein binding, GO:0032981, mitochondrial respiratory chain complex I assembly, 90 79 104 83 83 91 60 83 58 ENSG00000113851 chr3 3144628 3179727 - CRBN protein_coding This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 51185 GO:0048471, GO:0031464, GO:0031464, GO:0016020, GO:0005737, GO:0005634, perinuclear region of cytoplasm, Cul4A-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, membrane, cytoplasm, nucleus, GO:0046872, GO:0044325, GO:0005515, metal ion binding, ion channel binding, protein binding, GO:0043161, GO:0034766, GO:0031334, GO:0031333, GO:0016567, GO:0016567, GO:0016567, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of ion transmembrane transport, positive regulation of protein-containing complex assembly, negative regulation of protein-containing complex assembly, protein ubiquitination, protein ubiquitination, protein ubiquitination, 293 270 395 324 298 434 386 254 263 ENSG00000113889 chr3 186717276 186744410 + KNG1 protein_coding This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reduces or depletes angiotensin converting enzyme 2 (ACE2), which results in an increase in levels of des-Arg(9)-bradykinin, a bioactive metabolite of bradykinin that is associated with lung injury and inflammation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2020]. 3827 GO:0072562, GO:0070062, GO:0062023, GO:0031093, GO:0005886, GO:0005788, GO:0005615, GO:0005576, GO:0005576, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, platelet alpha granule lumen, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular region, extracellular region, extracellular region, extracellular region, GO:0008270, GO:0008201, GO:0005515, GO:0005102, GO:0004869, GO:0004869, GO:0004866, zinc ion binding, heparin binding, protein binding, signaling receptor binding, cysteine-type endopeptidase inhibitor activity, cysteine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0045861, GO:0044267, GO:0043687, GO:0043065, GO:0042311, GO:0030195, GO:0030195, GO:0010951, GO:0007597, GO:0007204, GO:0007204, GO:0007186, GO:0007162, GO:0006954, GO:0002576, negative regulation of proteolysis, cellular protein metabolic process, post-translational protein modification, positive regulation of apoptotic process, vasodilation, negative regulation of blood coagulation, negative regulation of blood coagulation, negative regulation of endopeptidase activity, blood coagulation, intrinsic pathway, positive regulation of cytosolic calcium ion concentration, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, negative regulation of cell adhesion, inflammatory response, platelet degranulation, 0 0 0 1 0 0 0 0 0 ENSG00000113905 chr3 186660216 186678240 + HRG protein_coding This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]. 3273 GO:0072562, GO:0070062, GO:0062023, GO:0036019, GO:0031093, GO:0009986, GO:0005886, GO:0005576, GO:0005576, GO:0005576, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, endolysosome, platelet alpha granule lumen, cell surface, plasma membrane, extracellular region, extracellular region, extracellular region, extracellular region, extracellular region, GO:0046872, GO:0043395, GO:0020037, GO:0019865, GO:0008270, GO:0008270, GO:0008201, GO:0008201, GO:0005515, GO:0005102, GO:0004869, GO:0004867, GO:0004866, metal ion binding, heparan sulfate proteoglycan binding, heme binding, immunoglobulin binding, zinc ion binding, zinc ion binding, heparin binding, heparin binding, protein binding, signaling receptor binding, cysteine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:2001027, GO:2000504, GO:1900747, GO:0061844, GO:0051918, GO:0051894, GO:0051838, GO:0050832, GO:0050730, GO:0043537, GO:0043254, GO:0043065, GO:0042730, GO:0033629, GO:0032956, GO:0030308, GO:0030193, GO:0030168, GO:0016525, GO:0015886, GO:0010951, GO:0010593, GO:0010543, GO:0010543, GO:0010468, GO:0008285, GO:0007162, GO:0006935, GO:0002839, GO:0002576, GO:0001525, negative regulation of endothelial cell chemotaxis, positive regulation of blood vessel remodeling, negative regulation of vascular endothelial growth factor signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, negative regulation of fibrinolysis, positive regulation of focal adhesion assembly, cytolysis by host of symbiont cells, defense response to fungus, regulation of peptidyl-tyrosine phosphorylation, negative regulation of blood vessel endothelial cell migration, regulation of protein-containing complex assembly, positive regulation of apoptotic process, fibrinolysis, negative regulation of cell adhesion mediated by integrin, regulation of actin cytoskeleton organization, negative regulation of cell growth, regulation of blood coagulation, platelet activation, negative regulation of angiogenesis, heme transport, negative regulation of endopeptidase activity, negative regulation of lamellipodium assembly, regulation of platelet activation, regulation of platelet activation, regulation of gene expression, negative regulation of cell population proliferation, negative regulation of cell adhesion, chemotaxis, positive regulation of immune response to tumor cell, platelet degranulation, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000113916 chr3 187721377 187745727 - BCL6 protein_coding The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. 604 GO:0005794, GO:0005657, GO:0005654, GO:0005654, GO:0005654, GO:0005634, Golgi apparatus, replication fork, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:1990837, GO:0046872, GO:0043565, GO:0042802, GO:0031490, GO:0005515, GO:0003700, GO:0003682, GO:0001227, GO:0001161, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, identical protein binding, chromatin DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, intronic transcription regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000773, GO:1903464, GO:0051272, GO:0050776, GO:0050727, GO:0048821, GO:0048294, GO:0045892, GO:0045892, GO:0045746, GO:0045666, GO:0045629, GO:0045595, GO:0045591, GO:0043380, GO:0043087, GO:0043065, GO:0042981, GO:0042127, GO:0042092, GO:0035024, GO:0032764, GO:0031065, GO:0030890, GO:0030308, GO:0030183, GO:0030036, GO:0019221, GO:0008285, GO:0008104, GO:0007283, GO:0007266, GO:0006974, GO:0006954, GO:0006357, GO:0002903, GO:0002682, GO:0002634, GO:0002467, GO:0001953, GO:0001817, GO:0000902, GO:0000122, GO:0000122, negative regulation of cellular senescence, negative regulation of mitotic cell cycle DNA replication, positive regulation of cellular component movement, regulation of immune response, regulation of inflammatory response, erythrocyte development, negative regulation of isotype switching to IgE isotypes, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of Notch signaling pathway, positive regulation of neuron differentiation, negative regulation of T-helper 2 cell differentiation, regulation of cell differentiation, positive regulation of regulatory T cell differentiation, regulation of memory T cell differentiation, regulation of GTPase activity, positive regulation of apoptotic process, regulation of apoptotic process, regulation of cell population proliferation, type 2 immune response, negative regulation of Rho protein signal transduction, negative regulation of mast cell cytokine production, positive regulation of histone deacetylation, positive regulation of B cell proliferation, negative regulation of cell growth, B cell differentiation, actin cytoskeleton organization, cytokine-mediated signaling pathway, negative regulation of cell population proliferation, protein localization, spermatogenesis, Rho protein signal transduction, cellular response to DNA damage stimulus, inflammatory response, regulation of transcription by RNA polymerase II, negative regulation of B cell apoptotic process, regulation of immune system process, regulation of germinal center formation, germinal center formation, negative regulation of cell-matrix adhesion, regulation of cytokine production, cell morphogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 14370 14286 22782 11046 12156 17125 13473 9212 14452 ENSG00000113924 chr3 120628173 120682571 - HGD protein_coding This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]. 3081 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0046872, GO:0042802, GO:0005515, GO:0004411, metal ion binding, identical protein binding, protein binding, homogentisate 1,2-dioxygenase activity, GO:0055114, GO:0006572, GO:0006559, GO:0006559, GO:0006559, oxidation-reduction process, tyrosine catabolic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, 1 1 0 4 2 0 2 1 0 ENSG00000113946 chr3 190322541 190412143 + CLDN16 protein_coding Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010]. 10686 GO:0016021, GO:0005923, GO:0005923, GO:0005886, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, GO:0042802, GO:0015095, GO:0005515, GO:0005198, identical protein binding, magnesium ion transmembrane transporter activity, protein binding, structural molecule activity, GO:1903830, GO:0070830, GO:0016338, GO:0007588, GO:0007155, GO:0006875, magnesium ion transmembrane transport, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, excretion, cell adhesion, cellular metal ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000113966 chr3 97764521 97801242 + ARL6 protein_coding The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]. 84100 GO:0070062, GO:0030117, GO:0016020, GO:0005930, GO:0005930, GO:0005929, GO:0005929, GO:0005929, GO:0005886, GO:0005879, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, membrane coat, membrane, axoneme, axoneme, cilium, cilium, cilium, plasma membrane, axonemal microtubule, cytosol, cytoplasm, cytoplasm, GO:0046872, GO:0005543, GO:0005525, GO:0005515, GO:0003924, metal ion binding, phospholipid binding, GTP binding, protein binding, GTPase activity, GO:1903445, GO:0097499, GO:0061512, GO:0061512, GO:0060271, GO:0060271, GO:0060271, GO:0051258, GO:0045444, GO:0032402, GO:0016192, GO:0016055, GO:0010842, GO:0008589, GO:0007601, GO:0007420, GO:0007368, GO:0006886, GO:0006612, protein transport from ciliary membrane to plasma membrane, protein localization to non-motile cilium, protein localization to cilium, protein localization to cilium, cilium assembly, cilium assembly, cilium assembly, protein polymerization, fat cell differentiation, melanosome transport, vesicle-mediated transport, Wnt signaling pathway, retina layer formation, regulation of smoothened signaling pathway, visual perception, brain development, determination of left/right symmetry, intracellular protein transport, protein targeting to membrane, 2 2 2 17 7 12 15 0 5 ENSG00000113971 chr3 132680609 132722442 - NPHP3 protein_coding This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]. 27031 GO:0005929, GO:0005929, GO:0005829, GO:0005576, cilium, cilium, cytosol, extracellular region, GO:0005515, protein binding, GO:2000167, GO:2000095, GO:0090090, GO:0072189, GO:0071910, GO:0071909, GO:0071908, GO:0060993, GO:0060287, GO:0060271, GO:0060027, GO:0048496, GO:0045494, GO:0035469, GO:0030324, GO:0016055, GO:0007368, GO:0003283, GO:0001947, GO:0001822, regulation of planar cell polarity pathway involved in neural tube closure, regulation of Wnt signaling pathway, planar cell polarity pathway, negative regulation of canonical Wnt signaling pathway, ureter development, determination of liver left/right asymmetry, determination of stomach left/right asymmetry, determination of intestine left/right asymmetry, kidney morphogenesis, epithelial cilium movement involved in determination of left/right asymmetry, cilium assembly, convergent extension involved in gastrulation, maintenance of animal organ identity, photoreceptor cell maintenance, determination of pancreatic left/right asymmetry, lung development, Wnt signaling pathway, determination of left/right symmetry, atrial septum development, heart looping, kidney development, 37 47 35 50 59 60 31 36 59 ENSG00000114013 chr3 122055366 122121139 + CD86 protein_coding This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011]. 942 GO:0070062, GO:0070062, GO:0016021, GO:0009986, GO:0009897, GO:0005886, extracellular exosome, extracellular exosome, integral component of membrane, cell surface, external side of plasma membrane, plasma membrane, GO:0038023, GO:0015026, GO:0005515, GO:0001618, signaling receptor activity, coreceptor activity, protein binding, virus receptor activity, GO:1990051, GO:1901224, GO:0071222, GO:0051897, GO:0046718, GO:0045893, GO:0045630, GO:0042130, GO:0042113, GO:0042102, GO:0032761, GO:0032753, GO:0032743, GO:0031295, GO:0031295, GO:0023035, GO:0019221, GO:0008284, GO:0007202, GO:0007166, GO:0006955, GO:0002377, GO:0002250, activation of protein kinase C activity, positive regulation of NIK/NF-kappaB signaling, cellular response to lipopolysaccharide, positive regulation of protein kinase B signaling, viral entry into host cell, positive regulation of transcription, DNA-templated, positive regulation of T-helper 2 cell differentiation, negative regulation of T cell proliferation, B cell activation, positive regulation of T cell proliferation, positive regulation of lymphotoxin A production, positive regulation of interleukin-4 production, positive regulation of interleukin-2 production, T cell costimulation, T cell costimulation, CD40 signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, activation of phospholipase C activity, cell surface receptor signaling pathway, immune response, immunoglobulin production, adaptive immune response, 8 23 18 41 36 27 31 22 22 ENSG00000114019 chr3 134355874 134375479 - AMOTL2 protein_coding Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 51421 GO:0055037, GO:0031410, GO:0016324, GO:0005923, GO:0005886, GO:0005829, recycling endosome, cytoplasmic vesicle, apical plasma membrane, bicellular tight junction, plasma membrane, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0035329, GO:0035329, GO:0030334, GO:0030036, GO:0016055, GO:0003365, GO:0001525, hippo signaling, hippo signaling, regulation of cell migration, actin cytoskeleton organization, Wnt signaling pathway, establishment of cell polarity involved in ameboidal cell migration, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000114021 chr3 100334701 100361635 + NIT2 protein_coding 56954 GO:1904724, GO:0070062, GO:0035580, GO:0005829, GO:0005813, GO:0005576, tertiary granule lumen, extracellular exosome, specific granule lumen, cytosol, centrosome, extracellular region, GO:0050152, GO:0050152, omega-amidase activity, omega-amidase activity, GO:0043312, GO:0006541, GO:0006541, GO:0006528, GO:0006528, GO:0006107, GO:0006107, neutrophil degranulation, glutamine metabolic process, glutamine metabolic process, asparagine metabolic process, asparagine metabolic process, oxaloacetate metabolic process, oxaloacetate metabolic process, 10 12 23 35 30 54 27 17 50 ENSG00000114023 chr3 122384176 122412334 + FAM162A protein_coding 26355 GO:0016021, GO:0005829, GO:0005739, GO:0005739, integral component of membrane, cytosol, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0090200, GO:0090200, GO:0071456, GO:0071456, GO:0051402, GO:0043065, GO:0006919, positive regulation of release of cytochrome c from mitochondria, positive regulation of release of cytochrome c from mitochondria, cellular response to hypoxia, cellular response to hypoxia, neuron apoptotic process, positive regulation of apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, 35 26 48 64 26 46 47 30 54 ENSG00000114026 chr3 9749944 9788219 + OGG1 protein_coding This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]. 4968 GO:0032991, GO:0016607, GO:0016363, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, nuclear speck, nuclear matrix, mitochondrion, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0140078, GO:0034039, GO:0034039, GO:0032357, GO:0008534, GO:0008017, GO:0005515, GO:0004519, GO:0003684, class I DNA-(apurinic or apyrimidinic site) endonuclease activity, 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity, 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity, oxidized purine DNA binding, oxidized purine nucleobase lesion DNA N-glycosylase activity, microtubule binding, protein binding, endonuclease activity, damaged DNA binding, GO:1901291, GO:0071276, GO:0051593, GO:0045471, GO:0045008, GO:0045007, GO:0043066, GO:0042493, GO:0033683, GO:0032355, GO:0009416, GO:0009314, GO:0007568, GO:0006979, GO:0006974, GO:0006355, GO:0006285, GO:0006284, GO:0002526, negative regulation of double-strand break repair via single-strand annealing, cellular response to cadmium ion, response to folic acid, response to ethanol, depyrimidination, depurination, negative regulation of apoptotic process, response to drug, nucleotide-excision repair, DNA incision, response to estradiol, response to light stimulus, response to radiation, aging, response to oxidative stress, cellular response to DNA damage stimulus, regulation of transcription, DNA-templated, base-excision repair, AP site formation, base-excision repair, acute inflammatory response, 114 126 167 102 123 152 102 103 92 ENSG00000114030 chr3 122421949 122514945 - KPNA1 protein_coding The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 3836 GO:0098978, GO:0043657, GO:0030425, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005643, GO:0005634, GO:0005634, glutamatergic synapse, host cell, dendrite, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nuclear pore, nucleus, nucleus, GO:0061608, GO:0008139, GO:0005515, nuclear import signal receptor activity, nuclear localization sequence binding, protein binding, GO:0099527, GO:0075733, GO:0019054, GO:0006607, GO:0006309, GO:0000018, postsynapse to nucleus signaling pathway, intracellular transport of virus, modulation by virus of host cellular process, NLS-bearing protein import into nucleus, apoptotic DNA fragmentation, regulation of DNA recombination, 1477 1324 2004 958 1226 1065 962 870 911 ENSG00000114054 chr3 136250306 136337896 + PCCB protein_coding The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]. 5096 GO:0005829, GO:0005759, GO:0005759, GO:0005739, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0005524, GO:0005515, GO:0004658, ATP binding, protein binding, propionyl-CoA carboxylase activity, GO:0019626, GO:0019626, GO:0006768, short-chain fatty acid catabolic process, short-chain fatty acid catabolic process, biotin metabolic process, 90 106 157 126 127 144 109 101 80 ENSG00000114062 chr15 25333728 25439056 - UBE3A protein_coding This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]. 7337 GO:0005829, GO:0005634, GO:0000502, cytosol, nucleus, proteasome complex, GO:0061630, GO:0046872, GO:0005515, GO:0004842, GO:0003713, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, transcription coactivator activity, GO:2000058, GO:1990416, GO:1905528, GO:0070936, GO:0061002, GO:0060736, GO:0051865, GO:0050847, GO:0048511, GO:0045944, GO:0042752, GO:0042542, GO:0042220, GO:0035037, GO:0032570, GO:0031398, GO:0030521, GO:0016032, GO:0014068, GO:0007420, GO:0006511, GO:0006508, GO:0001541, regulation of ubiquitin-dependent protein catabolic process, cellular response to brain-derived neurotrophic factor stimulus, positive regulation of Golgi lumen acidification, protein K48-linked ubiquitination, negative regulation of dendritic spine morphogenesis, prostate gland growth, protein autoubiquitination, progesterone receptor signaling pathway, rhythmic process, positive regulation of transcription by RNA polymerase II, regulation of circadian rhythm, response to hydrogen peroxide, response to cocaine, sperm entry, response to progesterone, positive regulation of protein ubiquitination, androgen receptor signaling pathway, viral process, positive regulation of phosphatidylinositol 3-kinase signaling, brain development, ubiquitin-dependent protein catabolic process, proteolysis, ovarian follicle development, 147 134 198 237 166 314 225 100 253 ENSG00000114098 chr3 138187248 138298389 + ARMC8 protein_coding 25852 GO:1904724, GO:0035580, GO:0034657, GO:0005737, GO:0005634, GO:0005576, GO:0000151, tertiary granule lumen, specific granule lumen, GID complex, cytoplasm, nucleus, extracellular region, ubiquitin ligase complex, GO:0005515, protein binding, GO:0043312, GO:0043161, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, 300 303 341 252 334 383 291 261 361 ENSG00000114107 chr3 138494344 138594538 - CEP70 protein_coding 80321 GO:0005829, GO:0005813, GO:0005813, cytosol, centrosome, centrosome, GO:0043015, GO:0042802, GO:0005515, gamma-tubulin binding, identical protein binding, protein binding, GO:0097711, GO:0070507, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, regulation of microtubule cytoskeleton organization, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 3 1 7 17 1 21 15 4 10 ENSG00000114113 chr3 139452884 139480747 - RBP2 protein_coding This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]. 5948 GO:0005829, cytosol, GO:0019841, GO:0016918, GO:0005501, retinol binding, retinal binding, retinoid binding, GO:0008544, GO:0006776, GO:0001523, epidermis development, vitamin A metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 1 3 ENSG00000114115 chr3 139517434 139539829 - RBP1 protein_coding This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 5947 GO:0005829, GO:0005829, GO:0005811, GO:0005654, cytosol, cytosol, lipid droplet, nucleoplasm, GO:1904768, GO:0016918, GO:0005515, GO:0005501, all-trans-retinol binding, retinal binding, protein binding, retinoid binding, GO:0055088, GO:0006776, GO:0002138, GO:0001523, lipid homeostasis, vitamin A metabolic process, retinoic acid biosynthetic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000114120 chr3 140941830 140980961 + SLC25A36 protein_coding 55186 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0015218, GO:0015218, GO:0005347, pyrimidine nucleotide transmembrane transporter activity, pyrimidine nucleotide transmembrane transporter activity, ATP transmembrane transporter activity, GO:1990519, GO:0051881, GO:0015867, GO:0007005, GO:0006864, GO:0000002, pyrimidine nucleotide import into mitochondrion, regulation of mitochondrial membrane potential, ATP transport, mitochondrion organization, pyrimidine nucleotide transport, mitochondrial genome maintenance, 272 310 442 349 274 526 406 209 250 ENSG00000114124 chr3 141778148 141818490 + GRK7 protein_coding This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008]. 131890 GO:0097381, photoreceptor disc membrane, GO:0050254, GO:0005524, GO:0004703, rhodopsin kinase activity, ATP binding, G protein-coupled receptor kinase activity, GO:0046777, GO:0022400, GO:0007601, GO:0007165, protein autophosphorylation, regulation of rhodopsin mediated signaling pathway, visual perception, signal transduction, 0 0 2 0 0 0 0 0 0 ENSG00000114125 chr3 141738204 141747560 + RNF7 protein_coding The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 9616 GO:0031466, GO:0031466, GO:0031461, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, Cul5-RING ubiquitin ligase complex, Cul5-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0097602, GO:0097602, GO:0061663, GO:0061630, GO:0019788, GO:0008270, GO:0005515, GO:0005507, cullin family protein binding, cullin family protein binding, NEDD8 ligase activity, ubiquitin protein ligase activity, NEDD8 transferase activity, zinc ion binding, protein binding, copper ion binding, GO:0051775, GO:0045116, GO:0043687, GO:0016567, GO:0016567, GO:0006511, response to redox state, protein neddylation, post-translational protein modification, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, 61 42 53 64 38 68 59 58 54 ENSG00000114126 chr3 141944428 142149544 - TFDP2 protein_coding The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 7029 GO:0090575, GO:0072686, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, mitotic spindle, mitochondrion, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0019904, GO:0008134, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000977, GO:0000977, protein domain specific binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1900740, GO:0070317, GO:0045944, GO:0045944, GO:0045892, GO:0006977, GO:0006357, GO:0000083, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, negative regulation of G0 to G1 transition, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, 35 31 61 76 40 134 44 41 110 ENSG00000114127 chr3 142306607 142448062 - XRN1 protein_coding This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 54464 GO:0045202, GO:0043025, GO:0030425, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005634, GO:0000932, synapse, neuronal cell body, dendrite, membrane, plasma membrane, cytosol, cytosol, nucleus, P-body, GO:0070034, GO:0051880, GO:0005515, GO:0004534, GO:0004534, GO:0004534, GO:0003723, GO:0003723, GO:0002151, telomerase RNA binding, G-quadruplex DNA binding, protein binding, 5'-3' exoribonuclease activity, 5'-3' exoribonuclease activity, 5'-3' exoribonuclease activity, RNA binding, RNA binding, G-quadruplex RNA binding, GO:1905795, GO:0090503, GO:0071409, GO:0071044, GO:0071028, GO:0043488, GO:0033574, GO:0032211, GO:0017148, GO:0016075, GO:0016075, GO:0000956, GO:0000956, cellular response to puromycin, RNA phosphodiester bond hydrolysis, exonucleolytic, cellular response to cycloheximide, histone mRNA catabolic process, nuclear mRNA surveillance, regulation of mRNA stability, response to testosterone, negative regulation of telomere maintenance via telomerase, negative regulation of translation, rRNA catabolic process, rRNA catabolic process, nuclear-transcribed mRNA catabolic process, nuclear-transcribed mRNA catabolic process, 2104 1746 2400 1228 1389 1554 1673 1117 1402 ENSG00000114166 chr3 20040023 20154404 + KAT2B protein_coding CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]. 8850 GO:0042641, GO:0032991, GO:0032991, GO:0031674, GO:0031672, GO:0005813, GO:0005671, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000776, GO:0000125, actomyosin, protein-containing complex, protein-containing complex, I band, A band, centrosome, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, kinetochore, PCAF complex, GO:0061733, GO:0042826, GO:0019901, GO:0016407, GO:0008134, GO:0005515, GO:0004861, GO:0004468, GO:0004468, GO:0004402, GO:0004402, GO:0004402, GO:0004145, GO:0003713, GO:0003712, GO:0003682, GO:0000977, peptide-lysine-N-acetyltransferase activity, histone deacetylase binding, protein kinase binding, acetyltransferase activity, transcription factor binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, histone acetyltransferase activity, histone acetyltransferase activity, histone acetyltransferase activity, diamine N-acetyltransferase activity, transcription coactivator activity, transcription coregulator activity, chromatin binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000233, GO:0060173, GO:0048511, GO:0046600, GO:0045944, GO:0045815, GO:0045747, GO:0045736, GO:0045722, GO:0045652, GO:0043970, GO:0043966, GO:0032869, GO:0018394, GO:0018393, GO:0018076, GO:0016579, GO:0016032, GO:0010835, GO:0008285, GO:0007507, GO:0007221, GO:0007219, GO:0007050, GO:0006473, GO:0006367, GO:0006338, GO:0006338, negative regulation of rRNA processing, limb development, rhythmic process, negative regulation of centriole replication, positive regulation of transcription by RNA polymerase II, positive regulation of gene expression, epigenetic, positive regulation of Notch signaling pathway, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of gluconeogenesis, regulation of megakaryocyte differentiation, histone H3-K9 acetylation, histone H3 acetylation, cellular response to insulin stimulus, peptidyl-lysine acetylation, internal peptidyl-lysine acetylation, N-terminal peptidyl-lysine acetylation, protein deubiquitination, viral process, regulation of protein ADP-ribosylation, negative regulation of cell population proliferation, heart development, positive regulation of transcription of Notch receptor target, Notch signaling pathway, cell cycle arrest, protein acetylation, transcription initiation from RNA polymerase II promoter, chromatin remodeling, chromatin remodeling, 902 831 1217 572 586 674 665 543 656 ENSG00000114200 chr3 165772904 165837472 - BCHE protein_coding This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]. 590 GO:0072562, GO:0016020, GO:0005788, GO:0005641, GO:0005576, GO:0005576, blood microparticle, membrane, endoplasmic reticulum lumen, nuclear envelope lumen, extracellular region, extracellular region, GO:0042802, GO:0033265, GO:0019899, GO:0005515, GO:0004104, GO:0003990, GO:0003824, GO:0001540, identical protein binding, choline binding, enzyme binding, protein binding, cholinesterase activity, acetylcholinesterase activity, catalytic activity, amyloid-beta binding, GO:0051593, GO:0051384, GO:0050805, GO:0050783, GO:0043279, GO:0042493, GO:0019695, GO:0014016, GO:0008285, GO:0007612, response to folic acid, response to glucocorticoid, negative regulation of synaptic transmission, cocaine metabolic process, response to alkaloid, response to drug, choline metabolic process, neuroblast differentiation, negative regulation of cell population proliferation, learning, 0 0 0 0 0 0 0 0 0 ENSG00000114204 chr3 167441789 167479004 - SERPINI2 protein_coding The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]. 5276 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 3 0 2 3 0 2 0 0 ENSG00000114209 chr3 167683298 167734939 - PDCD10 protein_coding This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 11235 GO:0090443, GO:0070062, GO:0005886, GO:0005829, GO:0005794, GO:0005794, GO:0005794, GO:0005737, GO:0000139, FAR/SIN/STRIPAK complex, extracellular exosome, plasma membrane, cytosol, Golgi apparatus, Golgi apparatus, Golgi apparatus, cytoplasm, Golgi membrane, GO:0047485, GO:0042803, GO:0019901, GO:0019901, GO:0005515, protein N-terminus binding, protein homodimerization activity, protein kinase binding, protein kinase binding, protein binding, GO:1990830, GO:1903588, GO:1903358, GO:0090316, GO:0090168, GO:0090051, GO:0071902, GO:0051683, GO:0050821, GO:0045747, GO:0044319, GO:0043406, GO:0043406, GO:0043149, GO:0043066, GO:0042542, GO:0036481, GO:0035023, GO:0033138, GO:0032874, GO:0030335, GO:0030335, GO:0010629, GO:0010628, GO:0008284, GO:0001525, cellular response to leukemia inhibitory factor, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, regulation of Golgi organization, positive regulation of intracellular protein transport, Golgi reassembly, negative regulation of cell migration involved in sprouting angiogenesis, positive regulation of protein serine/threonine kinase activity, establishment of Golgi localization, protein stabilization, positive regulation of Notch signaling pathway, wound healing, spreading of cells, positive regulation of MAP kinase activity, positive regulation of MAP kinase activity, stress fiber assembly, negative regulation of apoptotic process, response to hydrogen peroxide, intrinsic apoptotic signaling pathway in response to hydrogen peroxide, regulation of Rho protein signal transduction, positive regulation of peptidyl-serine phosphorylation, positive regulation of stress-activated MAPK cascade, positive regulation of cell migration, positive regulation of cell migration, negative regulation of gene expression, positive regulation of gene expression, positive regulation of cell population proliferation, angiogenesis, 297 245 282 194 303 264 193 245 177 ENSG00000114248 chr3 169839179 169869930 - LRRC31 protein_coding 79782 0 0 0 0 0 0 0 0 0 ENSG00000114251 chr3 55465715 55490539 - WNT5A protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 7474 GO:0098978, GO:0098978, GO:0098794, GO:0070062, GO:0062023, GO:0030669, GO:0030666, GO:0030665, GO:0009986, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005615, GO:0005576, glutamatergic synapse, glutamatergic synapse, postsynapse, extracellular exosome, collagen-containing extracellular matrix, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, clathrin-coated vesicle membrane, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, GO:1902379, GO:0048018, GO:0019904, GO:0005543, GO:0005515, GO:0005125, GO:0005115, GO:0005109, GO:0005109, GO:0005109, chemoattractant activity involved in axon guidance, receptor ligand activity, protein domain specific binding, phospholipid binding, protein binding, cytokine activity, receptor tyrosine kinase-like orphan receptor binding, frizzled binding, frizzled binding, frizzled binding, GO:2000052, GO:2000049, GO:1904955, GO:1904953, GO:1904938, GO:1904934, GO:1904862, GO:1904861, GO:1903827, GO:1902474, GO:1901216, GO:1900020, GO:0150012, GO:0099566, GO:0099566, GO:0099175, GO:0099175, GO:0099068, GO:0099054, GO:0097325, GO:0090630, GO:0090179, GO:0090103, GO:0090090, GO:0090082, GO:0090037, GO:0090009, GO:0072201, GO:0071560, GO:0071425, GO:0071346, GO:0071300, GO:0071277, GO:0071222, GO:0070245, GO:0062009, GO:0061354, GO:0061350, GO:0061349, GO:0061348, GO:0061347, GO:0061036, GO:0061024, GO:0060907, GO:0060809, GO:0060775, GO:0060762, GO:0060760, GO:0060750, GO:0060744, GO:0060686, GO:0060638, GO:0060599, GO:0060340, GO:0060324, GO:0060157, GO:0060071, GO:0060070, GO:0060068, GO:0060067, GO:0060065, GO:0060029, GO:0060028, GO:0051964, GO:0051885, GO:0051216, GO:0051092, GO:0050807, GO:0050807, GO:0050729, GO:0050727, GO:0050680, GO:0048850, GO:0048843, GO:0048806, GO:0048706, GO:0048570, GO:0048341, GO:0048146, GO:0048022, GO:0045944, GO:0045893, GO:0045892, GO:0045836, GO:0045807, GO:0045778, GO:0045766, GO:0045732, GO:0045599, GO:0045198, GO:0045165, GO:0043122, GO:0043066, GO:0043032, GO:0042733, GO:0042060, GO:0040037, GO:0038031, GO:0036518, GO:0036517, GO:0036342, GO:0035567, GO:0034613, GO:0033138, GO:0032760, GO:0032757, GO:0032755, GO:0032731, GO:0032731, GO:0032729, GO:0032722, GO:0032148, GO:0032092, GO:0030514, GO:0030324, GO:0030216, GO:0030182, GO:0030182, GO:0021891, GO:0016055, GO:0016055, GO:0010976, GO:0010820, GO:0010800, GO:0010628, GO:0010595, GO:0010033, GO:0008595, GO:0008584, GO:0007494, GO:0007442, GO:0007411, GO:0007257, GO:0007257, GO:0007223, GO:0007223, GO:0003408, GO:0003402, GO:0003323, GO:0003283, GO:0003139, GO:0003138, GO:0002720, GO:0002088, GO:0002053, GO:0001947, GO:0001938, GO:0001837, GO:0001822, GO:0001756, GO:0001736, GO:0000187, positive regulation of non-canonical Wnt signaling pathway, positive regulation of cell-cell adhesion mediated by cadherin, planar cell polarity pathway involved in midbrain dopaminergic neuron differentiation, Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, planar cell polarity pathway involved in axon guidance, negative regulation of cell proliferation in midbrain, inhibitory synapse assembly, excitatory synapse assembly, regulation of cellular protein localization, positive regulation of protein localization to synapse, positive regulation of neuron death, positive regulation of protein kinase C activity, positive regulation of neuron projection arborization, regulation of postsynaptic cytosolic calcium ion concentration, regulation of postsynaptic cytosolic calcium ion concentration, regulation of postsynapse organization, regulation of postsynapse organization, postsynapse assembly, presynapse assembly, melanocyte proliferation, activation of GTPase activity, planar cell polarity pathway involved in neural tube closure, cochlea morphogenesis, negative regulation of canonical Wnt signaling pathway, positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway, positive regulation of protein kinase C signaling, primitive streak formation, negative regulation of mesenchymal cell proliferation, cellular response to transforming growth factor beta stimulus, hematopoietic stem cell proliferation, cellular response to interferon-gamma, cellular response to retinoic acid, cellular response to calcium ion, cellular response to lipopolysaccharide, positive regulation of thymocyte apoptotic process, secondary palate development, planar cell polarity pathway involved in pericardium morphogenesis, planar cell polarity pathway involved in cardiac muscle tissue morphogenesis, planar cell polarity pathway involved in cardiac right atrium morphogenesis, planar cell polarity pathway involved in ventricular septum morphogenesis, planar cell polarity pathway involved in outflow tract morphogenesis, positive regulation of cartilage development, membrane organization, positive regulation of macrophage cytokine production, mesodermal to mesenchymal transition involved in gastrulation, planar cell polarity pathway involved in gastrula mediolateral intercalation, regulation of branching involved in mammary gland duct morphogenesis, positive regulation of response to cytokine stimulus, epithelial cell proliferation involved in mammary gland duct elongation, mammary gland branching involved in thelarche, negative regulation of prostatic bud formation, mesenchymal-epithelial cell signaling, lateral sprouting involved in mammary gland duct morphogenesis, positive regulation of type I interferon-mediated signaling pathway, face development, urinary bladder development, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, vagina development, cervix development, uterus development, convergent extension involved in organogenesis, convergent extension involved in axis elongation, negative regulation of synapse assembly, positive regulation of timing of anagen, cartilage development, positive regulation of NF-kappaB transcription factor activity, regulation of synapse organization, regulation of synapse organization, positive regulation of inflammatory response, regulation of inflammatory response, negative regulation of epithelial cell proliferation, hypophysis morphogenesis, negative regulation of axon extension involved in axon guidance, genitalia development, embryonic skeletal system development, notochord morphogenesis, paraxial mesoderm formation, positive regulation of fibroblast proliferation, negative regulation of melanin biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of meiotic nuclear division, positive regulation of endocytosis, positive regulation of ossification, positive regulation of angiogenesis, positive regulation of protein catabolic process, negative regulation of fat cell differentiation, establishment of epithelial cell apical/basal polarity, cell fate commitment, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of macrophage activation, embryonic digit morphogenesis, wound healing, negative regulation of fibroblast growth factor receptor signaling pathway, non-canonical Wnt signaling pathway via JNK cascade, chemorepulsion of dopaminergic neuron axon, chemoattraction of serotonergic neuron axon, post-anal tail morphogenesis, non-canonical Wnt signaling pathway, cellular protein localization, positive regulation of peptidyl-serine phosphorylation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, positive regulation of chemokine production, activation of protein kinase B activity, positive regulation of protein binding, negative regulation of BMP signaling pathway, lung development, keratinocyte differentiation, neuron differentiation, neuron differentiation, olfactory bulb interneuron development, Wnt signaling pathway, Wnt signaling pathway, positive regulation of neuron projection development, positive regulation of T cell chemotaxis, positive regulation of peptidyl-threonine phosphorylation, positive regulation of gene expression, positive regulation of endothelial cell migration, response to organic substance, anterior/posterior axis specification, embryo, male gonad development, midgut development, hindgut morphogenesis, axon guidance, activation of JUN kinase activity, activation of JUN kinase activity, Wnt signaling pathway, calcium modulating pathway, Wnt signaling pathway, calcium modulating pathway, optic cup formation involved in camera-type eye development, planar cell polarity pathway involved in axis elongation, type B pancreatic cell development, atrial septum development, secondary heart field specification, primary heart field specification, positive regulation of cytokine production involved in immune response, lens development in camera-type eye, positive regulation of mesenchymal cell proliferation, heart looping, positive regulation of endothelial cell proliferation, epithelial to mesenchymal transition, kidney development, somitogenesis, establishment of planar polarity, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000114268 chr3 48517684 48562015 - PFKFB4 protein_coding The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 5210 GO:0005829, GO:0005829, cytosol, cytosol, GO:0005524, GO:0005515, GO:0004331, GO:0003873, GO:0003873, ATP binding, protein binding, fructose-2,6-bisphosphate 2-phosphatase activity, 6-phosphofructo-2-kinase activity, 6-phosphofructo-2-kinase activity, GO:0046835, GO:0045821, GO:0016311, GO:0006003, GO:0006000, carbohydrate phosphorylation, positive regulation of glycolytic process, dephosphorylation, fructose 2,6-bisphosphate metabolic process, fructose metabolic process, 1175 1348 1232 1234 1865 1417 1492 1384 1187 ENSG00000114270 chr3 48564073 48595267 - COL7A1 protein_coding This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]. 1294 GO:0062023, GO:0062023, GO:0062023, GO:0033116, GO:0030134, GO:0005788, GO:0005615, GO:0005615, GO:0005604, GO:0005590, GO:0005576, GO:0000139, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, endoplasmic reticulum lumen, extracellular space, extracellular space, basement membrane, collagen type VII trimer, extracellular region, Golgi membrane, GO:0030020, GO:0030020, GO:0030020, GO:0005515, GO:0004867, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, serine-type endopeptidase inhibitor activity, GO:0048208, GO:0035987, GO:0030198, GO:0010951, GO:0008544, GO:0007155, GO:0006888, COPII vesicle coating, endodermal cell differentiation, extracellular matrix organization, negative regulation of endopeptidase activity, epidermis development, cell adhesion, endoplasmic reticulum to Golgi vesicle-mediated transport, 78 65 67 90 69 37 98 45 45 ENSG00000114279 chr3 192139395 192767764 - FGF12 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]. 2257 GO:0045202, GO:0005737, GO:0005634, GO:0005634, GO:0005615, synapse, cytoplasm, nucleus, nucleus, extracellular space, GO:0044325, GO:0017080, GO:0017080, GO:0008083, GO:0005515, ion channel binding, sodium channel regulator activity, sodium channel regulator activity, growth factor activity, protein binding, GO:2001258, GO:2000649, GO:1905150, GO:1905150, GO:1902305, GO:0098908, GO:0086002, GO:0050905, GO:0010765, GO:0008543, GO:0008344, GO:0007507, GO:0007399, GO:0007268, GO:0007267, GO:0007165, GO:0003254, negative regulation of cation channel activity, regulation of sodium ion transmembrane transporter activity, regulation of voltage-gated sodium channel activity, regulation of voltage-gated sodium channel activity, regulation of sodium ion transmembrane transport, regulation of neuronal action potential, cardiac muscle cell action potential involved in contraction, neuromuscular process, positive regulation of sodium ion transport, fibroblast growth factor receptor signaling pathway, adult locomotory behavior, heart development, nervous system development, chemical synaptic transmission, cell-cell signaling, signal transduction, regulation of membrane depolarization, 0 0 0 0 0 0 0 0 0 ENSG00000114302 chr3 48744597 48847846 - PRKAR2A protein_coding cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]. 5576 GO:0097546, GO:0070062, GO:0044853, GO:0032991, GO:0031588, GO:0016020, GO:0005952, GO:0005952, GO:0005930, GO:0005925, GO:0005886, GO:0005829, GO:0005813, GO:0005737, ciliary base, extracellular exosome, plasma membrane raft, protein-containing complex, nucleotide-activated protein kinase complex, membrane, cAMP-dependent protein kinase complex, cAMP-dependent protein kinase complex, axoneme, focal adhesion, plasma membrane, cytosol, centrosome, cytoplasm, GO:0034236, GO:0031625, GO:0030552, GO:0019904, GO:0008603, GO:0008603, GO:0008603, GO:0005515, GO:0004862, protein kinase A catalytic subunit binding, ubiquitin protein ligase binding, cAMP binding, protein domain specific binding, cAMP-dependent protein kinase regulator activity, cAMP-dependent protein kinase regulator activity, cAMP-dependent protein kinase regulator activity, protein binding, cAMP-dependent protein kinase inhibitor activity, GO:2000480, GO:0071377, GO:0043949, GO:0035556, GO:0034199, GO:0010738, GO:0007596, GO:0003091, negative regulation of cAMP-dependent protein kinase activity, cellular response to glucagon stimulus, regulation of cAMP-mediated signaling, intracellular signal transduction, activation of protein kinase A activity, regulation of protein kinase A signaling, blood coagulation, renal water homeostasis, 370 333 631 197 265 314 237 234 183 ENSG00000114315 chr3 194136145 194138732 + HES1 protein_coding This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]. 3280 GO:0032991, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0071820, GO:0071820, GO:0070888, GO:0070888, GO:0051087, GO:0043565, GO:0043398, GO:0042826, GO:0042803, GO:0008134, GO:0005515, GO:0003677, GO:0001227, GO:0001085, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, N-box binding, N-box binding, E-box binding, E-box binding, chaperone binding, sequence-specific DNA binding, HLH domain binding, histone deacetylase binding, protein homodimerization activity, transcription factor binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000978, GO:2000974, GO:2000737, GO:2000227, GO:1905934, GO:0097150, GO:0097084, GO:0090162, GO:0090102, GO:0072282, GO:0072141, GO:0072050, GO:0072049, GO:0072012, GO:0065003, GO:0061626, GO:0061309, GO:0061106, GO:0061009, GO:0060716, GO:0060675, GO:0060412, GO:0060253, GO:0060164, GO:0060122, GO:0050767, GO:0050678, GO:0048844, GO:0048715, GO:0048711, GO:0048667, GO:0048538, GO:0048469, GO:0046427, GO:0046425, GO:0046331, GO:0045977, GO:0045944, GO:0045893, GO:0045892, GO:0045747, GO:0045665, GO:0045608, GO:0045598, GO:0043433, GO:0043388, GO:0042531, GO:0042102, GO:0035910, GO:0035019, GO:0031016, GO:0030901, GO:0030513, GO:0030324, GO:0021984, GO:0021861, GO:0021575, GO:0021558, GO:0021557, GO:0021555, GO:0021537, GO:0016477, GO:0009952, GO:0008284, GO:0007399, GO:0007224, GO:0007219, GO:0007219, GO:0007219, GO:0007155, GO:0006357, GO:0003281, GO:0003266, GO:0003151, GO:0003143, GO:0001889, GO:0000122, negative regulation of forebrain neuron differentiation, negative regulation of pro-B cell differentiation, negative regulation of stem cell differentiation, negative regulation of pancreatic A cell differentiation, negative regulation of cell fate determination, neuronal stem cell population maintenance, vascular associated smooth muscle cell development, establishment of epithelial cell polarity, cochlea development, metanephric nephron tubule morphogenesis, renal interstitial fibroblast development, S-shaped body morphogenesis, comma-shaped body morphogenesis, glomerulus vasculature development, protein-containing complex assembly, pharyngeal arch artery morphogenesis, cardiac neural crest cell development involved in outflow tract morphogenesis, negative regulation of stomach neuroendocrine cell differentiation, common bile duct development, labyrinthine layer blood vessel development, ureteric bud morphogenesis, ventricular septum morphogenesis, negative regulation of glial cell proliferation, regulation of timing of neuron differentiation, inner ear receptor cell stereocilium organization, regulation of neurogenesis, regulation of epithelial cell proliferation, artery morphogenesis, negative regulation of oligodendrocyte differentiation, positive regulation of astrocyte differentiation, cell morphogenesis involved in neuron differentiation, thymus development, cell maturation, positive regulation of receptor signaling pathway via JAK-STAT, regulation of receptor signaling pathway via JAK-STAT, lateral inhibition, positive regulation of mitotic cell cycle, embryonic, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, negative regulation of neuron differentiation, negative regulation of inner ear auditory receptor cell differentiation, regulation of fat cell differentiation, negative regulation of DNA-binding transcription factor activity, positive regulation of DNA binding, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of T cell proliferation, ascending aorta morphogenesis, somatic stem cell population maintenance, pancreas development, midbrain development, positive regulation of BMP signaling pathway, lung development, adenohypophysis development, forebrain radial glial cell differentiation, hindbrain morphogenesis, trochlear nerve development, oculomotor nerve development, midbrain-hindbrain boundary morphogenesis, telencephalon development, cell migration, anterior/posterior pattern specification, positive regulation of cell population proliferation, nervous system development, smoothened signaling pathway, Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, cell adhesion, regulation of transcription by RNA polymerase II, ventricular septum development, regulation of secondary heart field cardioblast proliferation, outflow tract morphogenesis, embryonic heart tube morphogenesis, liver development, negative regulation of transcription by RNA polymerase II, 54 47 97 316 197 158 307 152 119 ENSG00000114316 chr3 49277831 49340712 - USP4 protein_coding The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 7375 GO:0005886, GO:0005829, GO:0005829, GO:0005764, GO:0005737, GO:0005634, GO:0005634, plasma membrane, cytosol, cytosol, lysosome, cytoplasm, nucleus, nucleus, GO:0046872, GO:0042802, GO:0031685, GO:0008234, GO:0005515, GO:0004843, metal ion binding, identical protein binding, adenosine receptor binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0034394, GO:0031647, GO:0031397, GO:0016579, GO:0016579, GO:0016579, GO:0006511, GO:0000244, protein localization to cell surface, regulation of protein stability, negative regulation of protein ubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, spliceosomal tri-snRNP complex assembly, 3463 3750 4176 3012 4550 4062 3376 3154 3320 ENSG00000114331 chr3 195274736 195443078 - ACAP2 protein_coding 23527 GO:0016020, GO:0010008, GO:0010008, GO:0001726, membrane, endosome membrane, endosome membrane, ruffle, GO:0080025, GO:0046872, GO:0031267, GO:0005096, phosphatidylinositol-3,5-bisphosphate binding, metal ion binding, small GTPase binding, GTPase activator activity, GO:1990090, GO:0043547, GO:0032456, GO:0030029, cellular response to nerve growth factor stimulus, positive regulation of GTPase activity, endocytic recycling, actin filament-based process, 4814 5163 5965 2178 3716 3331 2781 2989 2760 ENSG00000114346 chr3 172750682 172821474 + ECT2 protein_coding The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]. 1894 GO:0097149, GO:0072686, GO:0032154, GO:0030496, GO:0016604, GO:0005938, GO:0005923, GO:0005911, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, centralspindlin complex, mitotic spindle, cleavage furrow, midbody, nuclear body, cell cortex, bicellular tight junction, cell-cell junction, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0042803, GO:0005515, GO:0005096, GO:0005085, GO:0005085, protein homodimerization activity, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000431, GO:0090630, GO:0090630, GO:0090630, GO:0071479, GO:0071277, GO:0070830, GO:0070301, GO:0051988, GO:0051260, GO:0051056, GO:0045859, GO:0045666, GO:0043547, GO:0043547, GO:0043123, GO:0043065, GO:0043065, GO:0042307, GO:0035556, GO:0032467, GO:0032467, GO:0032147, GO:0015031, GO:0007399, GO:0007186, GO:0000902, GO:0000281, GO:0000281, regulation of cytokinesis, actomyosin contractile ring assembly, activation of GTPase activity, activation of GTPase activity, activation of GTPase activity, cellular response to ionizing radiation, cellular response to calcium ion, bicellular tight junction assembly, cellular response to hydrogen peroxide, regulation of attachment of spindle microtubules to kinetochore, protein homooligomerization, regulation of small GTPase mediated signal transduction, regulation of protein kinase activity, positive regulation of neuron differentiation, positive regulation of GTPase activity, positive regulation of GTPase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of protein import into nucleus, intracellular signal transduction, positive regulation of cytokinesis, positive regulation of cytokinesis, activation of protein kinase activity, protein transport, nervous system development, G protein-coupled receptor signaling pathway, cell morphogenesis, mitotic cytokinesis, mitotic cytokinesis, 124 77 88 94 75 122 74 83 90 ENSG00000114349 chr3 50191612 50196516 + GNAT1 protein_coding Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]. 2779 GO:0097381, GO:0043025, GO:0042622, GO:0032391, GO:0016324, GO:0016020, GO:0016020, GO:0005886, GO:0005834, GO:0005829, GO:0001917, GO:0001750, photoreceptor disc membrane, neuronal cell body, photoreceptor outer segment membrane, photoreceptor connecting cilium, apical plasma membrane, membrane, membrane, plasma membrane, heterotrimeric G-protein complex, cytosol, photoreceptor inner segment, photoreceptor outer segment, GO:0046872, GO:0031683, GO:0019901, GO:0019003, GO:0005525, GO:0003924, GO:0003924, GO:0003924, GO:0001664, GO:0000035, metal ion binding, G-protein beta/gamma-subunit complex binding, protein kinase binding, GDP binding, GTP binding, GTPase activity, GTPase activity, GTPase activity, G protein-coupled receptor binding, acyl binding, GO:0071257, GO:0060041, GO:0051344, GO:0051343, GO:0050917, GO:0050908, GO:0042462, GO:0022400, GO:0016056, GO:0009642, GO:0009416, GO:0008283, GO:0007603, GO:0007601, GO:0007193, GO:0007188, GO:0007165, GO:0006457, GO:0001973, GO:0001580, cellular response to electrical stimulus, retina development in camera-type eye, negative regulation of cyclic-nucleotide phosphodiesterase activity, positive regulation of cyclic-nucleotide phosphodiesterase activity, sensory perception of umami taste, detection of light stimulus involved in visual perception, eye photoreceptor cell development, regulation of rhodopsin mediated signaling pathway, rhodopsin mediated signaling pathway, response to light intensity, response to light stimulus, cell population proliferation, phototransduction, visible light, visual perception, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, signal transduction, protein folding, G protein-coupled adenosine receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000114353 chr3 50226292 50259355 + GNAI2 protein_coding The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 2771 GO:1903561, GO:0070062, GO:0045202, GO:0045121, GO:0044297, GO:0030496, GO:0030425, GO:0016020, GO:0005886, GO:0005886, GO:0005834, GO:0005829, GO:0005813, GO:0005737, GO:0005654, extracellular vesicle, extracellular exosome, synapse, membrane raft, cell body, midbody, dendrite, membrane, plasma membrane, plasma membrane, heterotrimeric G-protein complex, cytosol, centrosome, cytoplasm, nucleoplasm, GO:0046872, GO:0031683, GO:0005525, GO:0005515, GO:0003924, GO:0001664, metal ion binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activity, G protein-coupled receptor binding, GO:2001234, GO:2000179, GO:1904707, GO:1903614, GO:0140199, GO:0070374, GO:0051924, GO:0051301, GO:0050805, GO:0046628, GO:0045955, GO:0035815, GO:0035810, GO:0033864, GO:0032930, GO:0030335, GO:0008284, GO:0008283, GO:0007584, GO:0007214, GO:0007213, GO:0007194, GO:0007193, GO:0007193, GO:0007189, GO:0007188, GO:0007186, GO:0007165, GO:0007049, GO:0006457, GO:0001973, negative regulation of apoptotic signaling pathway, positive regulation of neural precursor cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of protein tyrosine phosphatase activity, negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process, positive regulation of ERK1 and ERK2 cascade, regulation of calcium ion transport, cell division, negative regulation of synaptic transmission, positive regulation of insulin receptor signaling pathway, negative regulation of calcium ion-dependent exocytosis, positive regulation of renal sodium excretion, positive regulation of urine volume, positive regulation of NAD(P)H oxidase activity, positive regulation of superoxide anion generation, positive regulation of cell migration, positive regulation of cell population proliferation, cell population proliferation, response to nutrient, gamma-aminobutyric acid signaling pathway, G protein-coupled acetylcholine receptor signaling pathway, negative regulation of adenylate cyclase activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cell cycle, protein folding, G protein-coupled adenosine receptor signaling pathway, 11535 12979 15628 3590 8694 5936 5066 8076 5618 ENSG00000114354 chr3 100709331 100748966 + TFG protein_coding There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]. 10342 GO:0070971, GO:0070971, GO:0043231, GO:0005829, GO:0005829, GO:0005737, GO:0000139, endoplasmic reticulum exit site, endoplasmic reticulum exit site, intracellular membrane-bounded organelle, cytosol, cytosol, cytoplasm, Golgi membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0048208, GO:0043123, GO:0006888, GO:0006888, COPII vesicle coating, positive regulation of I-kappaB kinase/NF-kappaB signaling, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 762 684 1149 532 696 816 713 483 688 ENSG00000114374 chrY 12701231 12860839 + USP9Y protein_coding This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]. 8287 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0070410, GO:0008234, GO:0004843, GO:0004197, co-SMAD binding, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0030509, GO:0016579, GO:0016579, GO:0016477, GO:0007283, GO:0007179, GO:0006511, BMP signaling pathway, protein deubiquitination, protein deubiquitination, cell migration, spermatogenesis, transforming growth factor beta receptor signaling pathway, ubiquitin-dependent protein catabolic process, 157 74 224 338 48 236 289 57 196 ENSG00000114378 chr3 50299889 50312381 - HYAL1 protein_coding This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3373 GO:0070062, GO:0043202, GO:0036117, GO:0031410, GO:0031410, GO:0005764, GO:0005737, GO:0005615, extracellular exosome, lysosomal lumen, hyaluranon cable, cytoplasmic vesicle, cytoplasmic vesicle, lysosome, cytoplasm, extracellular space, GO:0050501, GO:0008134, GO:0004415, GO:0001618, hyaluronan synthase activity, transcription factor binding, hyalurononglucosaminidase activity, virus receptor activity, GO:1900106, GO:1900087, GO:0071493, GO:0071467, GO:0071356, GO:0071347, GO:0060272, GO:0051216, GO:0050679, GO:0046718, GO:0046677, GO:0045927, GO:0045785, GO:0045766, GO:0045766, GO:0044344, GO:0036120, GO:0030308, GO:0030307, GO:0030214, GO:0030214, GO:0030214, GO:0030213, GO:0030212, GO:0030207, GO:0010634, GO:0009615, GO:0006954, GO:0005975, GO:0000302, positive regulation of hyaluranon cable assembly, positive regulation of G1/S transition of mitotic cell cycle, cellular response to UV-B, cellular response to pH, cellular response to tumor necrosis factor, cellular response to interleukin-1, embryonic skeletal joint morphogenesis, cartilage development, positive regulation of epithelial cell proliferation, viral entry into host cell, response to antibiotic, positive regulation of growth, positive regulation of cell adhesion, positive regulation of angiogenesis, positive regulation of angiogenesis, cellular response to fibroblast growth factor stimulus, cellular response to platelet-derived growth factor stimulus, negative regulation of cell growth, positive regulation of cell growth, hyaluronan catabolic process, hyaluronan catabolic process, hyaluronan catabolic process, hyaluronan biosynthetic process, hyaluronan metabolic process, chondroitin sulfate catabolic process, positive regulation of epithelial cell migration, response to virus, inflammatory response, carbohydrate metabolic process, response to reactive oxygen species, 8 10 16 12 16 11 12 6 1 ENSG00000114383 chr3 50320027 50328251 - TUSC2 protein_coding This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. [provided by RefSeq, Jul 2008]. 11334 GO:0005739, mitochondrion, GO:0005515, protein binding, GO:2000377, GO:0071609, GO:0070945, GO:0051881, GO:0048469, GO:0032733, GO:0032700, GO:0032618, GO:0007049, GO:0006954, GO:0006909, GO:0001779, regulation of reactive oxygen species metabolic process, chemokine (C-C motif) ligand 5 production, neutrophil-mediated killing of gram-negative bacterium, regulation of mitochondrial membrane potential, cell maturation, positive regulation of interleukin-10 production, negative regulation of interleukin-17 production, interleukin-15 production, cell cycle, inflammatory response, phagocytosis, natural killer cell differentiation, 379 300 328 68 169 106 112 174 117 ENSG00000114388 chr3 50347330 50351091 - NPRL2 protein_coding 10641 GO:1990130, GO:1990130, GO:0005765, GATOR1 complex, GATOR1 complex, lysosomal membrane, GO:0005515, GO:0005096, GO:0004672, protein binding, GTPase activator activity, protein kinase activity, GO:2000785, GO:0043547, GO:0034198, GO:0034198, GO:0033673, GO:0032007, GO:0032007, GO:0010508, GO:0006995, GO:0006468, regulation of autophagosome assembly, positive regulation of GTPase activity, cellular response to amino acid starvation, cellular response to amino acid starvation, negative regulation of kinase activity, negative regulation of TOR signaling, negative regulation of TOR signaling, positive regulation of autophagy, cellular response to nitrogen starvation, protein phosphorylation, 208 176 180 261 363 245 253 257 214 ENSG00000114391 chr3 101681091 101686782 - RPL24 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6152 GO:0070062, GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005829, GO:0005783, GO:0005737, extracellular exosome, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, cytosol, endoplasmic reticulum, cytoplasm, GO:0045296, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, cadherin binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:1902626, GO:0060041, GO:0031290, GO:0021554, GO:0019083, GO:0010458, GO:0007093, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0002181, GO:0000184, GO:0000027, assembly of large subunit precursor of preribosome, retina development in camera-type eye, retinal ganglion cell axon guidance, optic nerve development, viral transcription, exit from mitosis, mitotic cell cycle checkpoint, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal large subunit assembly, 516 424 628 2206 2207 2340 1522 1554 1771 ENSG00000114395 chr3 50350695 50358460 + CYB561D2 protein_coding 11068 GO:0031982, GO:0030659, GO:0016021, GO:0005789, GO:0005783, GO:0005783, vesicle, cytoplasmic vesicle membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0046872, GO:0020037, GO:0020037, GO:0016491, GO:0005515, GO:0004322, GO:0004322, metal ion binding, heme binding, heme binding, oxidoreductase activity, protein binding, ferroxidase activity, ferroxidase activity, GO:0055114, oxidation-reduction process, 204 227 194 111 183 131 137 145 72 ENSG00000114405 chr3 62318973 62336213 + C3orf14 protein_coding 57415 0 1 2 3 0 9 5 2 2 ENSG00000114416 chr3 180868141 180982753 + FXR1 protein_coding The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8087 GO:1902737, GO:0098978, GO:0098793, GO:0048471, GO:0044326, GO:0043197, GO:0043034, GO:0043025, GO:0036464, GO:0030426, GO:0030424, GO:0016020, GO:0016020, GO:0014069, GO:0005844, GO:0005829, GO:0005737, GO:0005730, GO:0005634, dendritic filopodium, glutamatergic synapse, presynapse, perinuclear region of cytoplasm, dendritic spine neck, dendritic spine, costamere, neuronal cell body, cytoplasmic ribonucleoprotein granule, growth cone, axon, membrane, membrane, postsynaptic density, polysome, cytosol, cytoplasm, nucleolus, nucleus, GO:0046982, GO:0045182, GO:0042803, GO:0042803, GO:0033592, GO:0005515, GO:0003730, GO:0003723, protein heterodimerization activity, translation regulator activity, protein homodimerization activity, protein homodimerization activity, RNA strand annealing activity, protein binding, mRNA 3'-UTR binding, RNA binding, GO:2001022, GO:2000637, GO:0060538, GO:0051489, GO:0045727, GO:0043488, GO:0030154, GO:0017148, GO:0007517, GO:0006915, GO:0001934, GO:0000381, positive regulation of response to DNA damage stimulus, positive regulation of gene silencing by miRNA, skeletal muscle organ development, regulation of filopodium assembly, positive regulation of translation, regulation of mRNA stability, cell differentiation, negative regulation of translation, muscle organ development, apoptotic process, positive regulation of protein phosphorylation, regulation of alternative mRNA splicing, via spliceosome, 600 548 986 409 426 496 434 413 474 ENSG00000114423 chr3 105655461 105869552 - CBLB protein_coding This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]. 868 GO:0045121, GO:0005886, GO:0005829, GO:0005654, membrane raft, plasma membrane, cytosol, nucleoplasm, GO:0061630, GO:0030971, GO:0017124, GO:0008270, GO:0005515, GO:0005509, GO:0001784, ubiquitin protein ligase activity, receptor tyrosine kinase binding, SH3 domain binding, zinc ion binding, protein binding, calcium ion binding, phosphotyrosine residue binding, GO:2000583, GO:0016567, GO:0007175, GO:0007166, GO:0007165, GO:0006607, regulation of platelet-derived growth factor receptor-alpha signaling pathway, protein ubiquitination, negative regulation of epidermal growth factor-activated receptor activity, cell surface receptor signaling pathway, signal transduction, NLS-bearing protein import into nucleus, 111 80 161 189 79 313 157 43 157 ENSG00000114439 chr3 107522936 107811324 + BBX protein_coding 56987 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060348, GO:0006357, bone development, regulation of transcription by RNA polymerase II, 575 433 948 384 256 453 430 203 453 ENSG00000114446 chr3 108160812 108222570 - IFT57 protein_coding 55081 GO:0097542, GO:0044292, GO:0036064, GO:0032391, GO:0030992, GO:0030992, GO:0005930, GO:0005929, GO:0005929, GO:0005813, GO:0005794, ciliary tip, dendrite terminus, ciliary basal body, photoreceptor connecting cilium, intraciliary transport particle B, intraciliary transport particle B, axoneme, cilium, cilium, centrosome, Golgi apparatus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:1905515, GO:0060972, GO:0050680, GO:0044458, GO:0042981, GO:0042073, GO:0035735, GO:0007224, GO:0006919, GO:0006915, GO:0001947, GO:0001843, non-motile cilium assembly, left/right pattern formation, negative regulation of epithelial cell proliferation, motile cilium assembly, regulation of apoptotic process, intraciliary transport, intraciliary transport involved in cilium assembly, smoothened signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, heart looping, neural tube closure, 109 83 166 98 59 91 88 90 58 ENSG00000114450 chr3 179396089 179451590 - GNB4 protein_coding Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]. 59345 GO:0070062, GO:0005834, GO:0005829, GO:0005765, GO:0005737, extracellular exosome, heterotrimeric G-protein complex, cytosol, lysosomal membrane, cytoplasm, GO:0044877, GO:0031682, GO:0005515, protein-containing complex binding, G-protein gamma-subunit binding, protein binding, GO:0021762, GO:0007186, GO:0006457, substantia nigra development, G protein-coupled receptor signaling pathway, protein folding, 886 693 881 262 612 542 364 484 521 ENSG00000114455 chr3 108296490 108378285 + HHLA2 protein_coding This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 11148 GO:0016021, GO:0009897, GO:0005575, integral component of membrane, external side of plasma membrane, cellular_component, GO:0005515, GO:0005102, GO:0003674, protein binding, signaling receptor binding, molecular_function, GO:0050852, GO:0042104, GO:0031295, GO:0001819, GO:0001817, T cell receptor signaling pathway, positive regulation of activated T cell proliferation, T cell costimulation, positive regulation of cytokine production, regulation of cytokine production, 1 0 2 0 1 0 3 2 2 ENSG00000114473 chr3 197889075 197960142 - IQCG protein_coding 84223 GO:0070062, GO:0036126, GO:0036126, GO:0031514, GO:0031514, GO:0005829, GO:0005737, GO:0005737, GO:0002177, extracellular exosome, sperm flagellum, sperm flagellum, motile cilium, motile cilium, cytosol, cytoplasm, cytoplasm, manchette, GO:0030544, GO:0005516, Hsp70 protein binding, calmodulin binding, GO:0044782, GO:0007288, GO:0007288, GO:0007286, cilium organization, sperm axoneme assembly, sperm axoneme assembly, spermatid development, 9 14 12 17 21 41 25 5 29 ENSG00000114480 chr3 81489699 81762161 - GBE1 protein_coding The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]. 2632 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0102752, GO:0043169, GO:0005515, GO:0004553, GO:0003844, GO:0003844, GO:0003844, 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis), cation binding, protein binding, hydrolase activity, hydrolyzing O-glycosyl compounds, 1,4-alpha-glucan branching enzyme activity, 1,4-alpha-glucan branching enzyme activity, 1,4-alpha-glucan branching enzyme activity, GO:0006091, GO:0005978, GO:0005978, GO:0005978, GO:0005978, GO:0005977, GO:0005975, generation of precursor metabolites and energy, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen metabolic process, carbohydrate metabolic process, 215 277 301 236 408 546 442 569 675 ENSG00000114487 chr3 108958239 109118142 - MORC1 protein_coding This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]. 27136 GO:0005634, GO:0001673, nucleus, male germ cell nucleus, GO:0008270, zinc ion binding, GO:2000143, GO:0044026, GO:0043046, GO:0040029, GO:0030154, GO:0010529, GO:0007283, GO:0007275, GO:0001662, negative regulation of DNA-templated transcription, initiation, DNA hypermethylation, DNA methylation involved in gamete generation, regulation of gene expression, epigenetic, cell differentiation, negative regulation of transposition, spermatogenesis, multicellular organism development, behavioral fear response, 0 0 0 0 0 0 1 0 0 ENSG00000114491 chr3 124730366 124749273 + UMPS protein_coding This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 7372 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0004590, GO:0004590, GO:0004588, GO:0004588, orotidine-5'-phosphate decarboxylase activity, orotidine-5'-phosphate decarboxylase activity, orotate phosphoribosyltransferase activity, orotate phosphoribosyltransferase activity, GO:0046134, GO:0044205, GO:0035690, GO:0019856, GO:0007595, GO:0007565, GO:0006222, GO:0006222, GO:0006207, pyrimidine nucleoside biosynthetic process, 'de novo' UMP biosynthetic process, cellular response to drug, pyrimidine nucleobase biosynthetic process, lactation, female pregnancy, UMP biosynthetic process, UMP biosynthetic process, 'de novo' pyrimidine nucleobase biosynthetic process, 9 12 37 37 10 63 16 7 21 ENSG00000114503 chr3 196935402 196942597 - NCBP2 protein_coding The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 22916 GO:0034518, GO:0005846, GO:0005845, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, RNA cap binding complex, nuclear cap binding complex, mRNA cap binding complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0017069, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0000340, GO:0000340, GO:0000339, GO:0000339, snRNA binding, protein binding, mRNA binding, RNA binding, RNA binding, RNA 7-methylguanosine cap binding, RNA 7-methylguanosine cap binding, RNA cap binding, RNA cap binding, GO:1900363, GO:0098789, GO:0051168, GO:0046833, GO:0045292, GO:0042795, GO:0031442, GO:0031124, GO:0031047, GO:0016070, GO:0008543, GO:0008380, GO:0008334, GO:0006446, GO:0006408, GO:0006408, GO:0006406, GO:0006405, GO:0006370, GO:0006369, GO:0006368, GO:0006366, GO:0000398, GO:0000398, GO:0000184, GO:0000184, GO:0000184, regulation of mRNA polyadenylation, pre-mRNA cleavage required for polyadenylation, nuclear export, positive regulation of RNA export from nucleus, mRNA cis splicing, via spliceosome, snRNA transcription by RNA polymerase II, positive regulation of mRNA 3'-end processing, mRNA 3'-end processing, gene silencing by RNA, RNA metabolic process, fibroblast growth factor receptor signaling pathway, RNA splicing, histone mRNA metabolic process, regulation of translational initiation, snRNA export from nucleus, snRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 7-methylguanosine mRNA capping, termination of RNA polymerase II transcription, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 100 68 183 218 113 259 160 82 145 ENSG00000114520 chr3 125446644 125520197 - SNX4 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]. 8723 GO:0032991, GO:0031901, GO:0031201, GO:0016020, GO:0005886, GO:0005868, GO:0005737, protein-containing complex, early endosome membrane, SNARE complex, membrane, plasma membrane, cytoplasmic dynein complex, cytoplasm, GO:1990460, GO:1990459, GO:0035091, GO:0005515, GO:0005158, GO:0005154, leptin receptor binding, transferrin receptor binding, phosphatidylinositol binding, protein binding, insulin receptor binding, epidermal growth factor receptor binding, GO:1903595, GO:0032456, GO:0015031, positive regulation of histamine secretion by mast cell, endocytic recycling, protein transport, 30 22 44 56 35 42 37 32 32 ENSG00000114529 chr3 112086335 112131004 + C3orf52 protein_coding 79669 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, 2 5 10 11 10 21 1 5 5 ENSG00000114541 chr3 69169990 69542583 - FRMD4B protein_coding This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]. 23150 GO:0005923, GO:0005912, GO:0005856, GO:0005737, GO:0005615, GO:0001726, bicellular tight junction, adherens junction, cytoskeleton, cytoplasm, extracellular space, ruffle, GO:0090162, establishment of epithelial cell polarity, 236 450 458 42 113 96 62 83 88 ENSG00000114544 chr3 126006355 126101561 - SLC41A3 protein_coding 54946 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0008324, GO:0005515, cation transmembrane transporter activity, protein binding, GO:0098655, cation transmembrane transport, 16 8 34 50 24 46 21 12 21 ENSG00000114547 chr3 125969144 125983454 + ROPN1B protein_coding 152015 GO:0031514, GO:0031514, GO:0005737, GO:0005737, motile cilium, motile cilium, cytoplasm, cytoplasm, GO:0046982, GO:0030159, GO:0005515, protein heterodimerization activity, signaling receptor complex adaptor activity, protein binding, GO:0098609, GO:0061640, GO:0061512, GO:0048240, GO:0048240, GO:0044782, GO:0030317, GO:0030317, GO:0007342, GO:0007340, GO:0007283, GO:0007266, GO:0001932, cell-cell adhesion, cytoskeleton-dependent cytokinesis, protein localization to cilium, sperm capacitation, sperm capacitation, cilium organization, flagellated sperm motility, flagellated sperm motility, fusion of sperm to egg plasma membrane involved in single fertilization, acrosome reaction, spermatogenesis, Rho protein signal transduction, regulation of protein phosphorylation, 0 0 0 0 2 2 0 0 0 ENSG00000114554 chr3 126988594 127037392 + PLXNA1 protein_coding 5361 GO:0070062, GO:0005887, GO:0005886, GO:0005829, GO:0005654, GO:0002116, GO:0002116, extracellular exosome, integral component of plasma membrane, plasma membrane, cytosol, nucleoplasm, semaphorin receptor complex, semaphorin receptor complex, GO:0038023, GO:0017154, GO:0017154, signaling receptor activity, semaphorin receptor activity, semaphorin receptor activity, GO:1990138, GO:1902287, GO:0060666, GO:0050772, GO:0043087, GO:0030334, GO:0014910, GO:0008360, GO:0007275, GO:0007162, neuron projection extension, semaphorin-plexin signaling pathway involved in axon guidance, dichotomous subdivision of terminal units involved in salivary gland branching, positive regulation of axonogenesis, regulation of GTPase activity, regulation of cell migration, regulation of smooth muscle cell migration, regulation of cell shape, multicellular organism development, negative regulation of cell adhesion, 22 14 37 29 3 30 38 8 20 ENSG00000114573 chr3 113747019 113812056 + ATP6V1A protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]. 523 GO:0070062, GO:0033180, GO:0016469, GO:0016324, GO:0005902, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005774, GO:0005765, extracellular exosome, proton-transporting V-type ATPase, V1 domain, proton-transporting two-sector ATPase complex, apical plasma membrane, microvillus, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, vacuolar membrane, lysosomal membrane, GO:0046961, GO:0046933, GO:0005524, proton-transporting ATPase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, ATP binding, GO:0090383, GO:0036295, GO:0034220, GO:0033572, GO:0016241, GO:0015986, GO:0008286, GO:0006879, phagosome acidification, cellular response to increased oxygen levels, ion transmembrane transport, transferrin transport, regulation of macroautophagy, ATP synthesis coupled proton transport, insulin receptor signaling pathway, cellular iron ion homeostasis, 2822 2832 3670 1089 2310 1579 1187 1572 1290 ENSG00000114626 chr3 127672935 127680920 + ABTB1 protein_coding This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]. 80325 GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0000151, plasma membrane, cytosol, cytoplasm, nucleolus, ubiquitin ligase complex, GO:0005515, GO:0003746, protein binding, translation elongation factor activity, GO:0006414, translational elongation, 8501 9251 9861 5815 10205 7230 6810 8272 6664 ENSG00000114631 chr3 127629181 127672809 + PODXL2 protein_coding This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012]. 50512 GO:0005887, GO:0005796, integral component of plasma membrane, Golgi lumen, GO:0005539, GO:0005515, glycosaminoglycan binding, protein binding, GO:0050901, GO:0050901, leukocyte tethering or rolling, leukocyte tethering or rolling, 8 9 11 9 6 7 19 7 11 ENSG00000114638 chr3 119173517 119205153 + UPK1B protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]. 7348 GO:0070062, GO:0016021, GO:0005887, extracellular exosome, integral component of membrane, integral component of plasma membrane, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0030855, epithelial cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000114646 chr3 47562239 47580792 - CSPG5 protein_coding The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 10675 GO:0098982, GO:0098978, GO:0097060, GO:0045202, GO:0043202, GO:0030660, GO:0016021, GO:0016020, GO:0009986, GO:0005887, GO:0005796, GO:0005794, GO:0005789, GO:0005576, GO:0000139, GABA-ergic synapse, glutamatergic synapse, synaptic membrane, synapse, lysosomal lumen, Golgi-associated vesicle membrane, integral component of membrane, membrane, cell surface, integral component of plasma membrane, Golgi lumen, Golgi apparatus, endoplasmic reticulum membrane, extracellular region, Golgi membrane, GO:0008083, GO:0005515, growth factor activity, protein binding, GO:2000300, GO:1900026, GO:0106091, GO:0099550, GO:0048858, GO:0046907, GO:0040008, GO:0030208, GO:0030207, GO:0030206, GO:0007399, GO:0007165, GO:0007010, regulation of synaptic vesicle exocytosis, positive regulation of substrate adhesion-dependent cell spreading, glial cell projection elongation, trans-synaptic signaling, modulating synaptic transmission, cell projection morphogenesis, intracellular transport, regulation of growth, dermatan sulfate biosynthetic process, chondroitin sulfate catabolic process, chondroitin sulfate biosynthetic process, nervous system development, signal transduction, cytoskeleton organization, 2 1 0 4 0 0 1 0 3 ENSG00000114648 chr3 47282917 47346816 + KLHL18 protein_coding 23276 GO:0005515, protein binding, GO:1901992, GO:0051301, GO:0016567, GO:0016567, GO:0007049, positive regulation of mitotic cell cycle phase transition, cell division, protein ubiquitination, protein ubiquitination, cell cycle, 723 665 900 432 581 732 521 450 528 ENSG00000114650 chr3 47413694 47477126 - SCAP protein_coding This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 22937 GO:0032991, GO:0016021, GO:0012507, GO:0005794, GO:0005789, GO:0005783, GO:0000139, GO:0000139, protein-containing complex, integral component of membrane, ER to Golgi transport vesicle membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0051082, GO:0044877, GO:0032934, GO:0005515, unfolded protein binding, protein-containing complex binding, sterol binding, protein binding, GO:0090110, GO:0045542, GO:0045541, GO:0044255, GO:0042304, GO:0032933, GO:0032933, GO:0032868, GO:0008203, GO:0007568, GO:0006955, GO:0001666, COPII-coated vesicle cargo loading, positive regulation of cholesterol biosynthetic process, negative regulation of cholesterol biosynthetic process, cellular lipid metabolic process, regulation of fatty acid biosynthetic process, SREBP signaling pathway, SREBP signaling pathway, response to insulin, cholesterol metabolic process, aging, immune response, response to hypoxia, 1552 1625 1657 1018 1585 1167 1183 1225 1107 ENSG00000114654 chr3 129001629 129040742 + EFCC1 protein_coding 79825 GO:0005829, cytosol, GO:0005509, calcium ion binding, 0 1 0 0 0 0 0 0 0 ENSG00000114656 chr3 128909866 129002690 - KIAA1257 protein_coding 57501 324 334 324 421 576 735 550 480 577 ENSG00000114670 chr3 131026850 131350465 + NEK11 protein_coding This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]. 79858 GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, centrosome, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1901990, GO:1901990, GO:0035556, GO:0031573, GO:0031573, GO:0016572, GO:0007059, GO:0006468, regulation of mitotic cell cycle phase transition, regulation of mitotic cell cycle phase transition, intracellular signal transduction, intra-S DNA damage checkpoint, intra-S DNA damage checkpoint, histone phosphorylation, chromosome segregation, protein phosphorylation, 23 22 23 19 9 42 16 9 14 ENSG00000114686 chr3 131462212 131502983 - MRPL3 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]. 11222 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 24 14 45 72 44 60 70 41 69 ENSG00000114698 chr3 146192339 146251179 - PLSCR4 protein_coding 57088 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0042609, GO:0019899, GO:0017128, GO:0017128, GO:0017124, GO:0005515, GO:0005509, CD4 receptor binding, enzyme binding, phospholipid scramblase activity, phospholipid scramblase activity, SH3 domain binding, protein binding, calcium ion binding, GO:0071222, GO:0017121, GO:0017121, cellular response to lipopolysaccharide, plasma membrane phospholipid scrambling, plasma membrane phospholipid scrambling, 0 0 0 0 0 0 0 0 0 ENSG00000114735 chr3 50569152 50596168 + HEMK1 protein_coding 51409 GO:0005739, mitochondrion, GO:0102559, GO:0008276, GO:0008170, GO:0005515, GO:0003677, protein-(glutamine-N5) methyltransferase activity, protein methyltransferase activity, N-methyltransferase activity, protein binding, DNA binding, GO:0006479, GO:0006306, protein methylation, DNA methylation, 44 29 59 148 62 97 115 42 88 ENSG00000114737 chr3 50606490 50611831 - CISH protein_coding The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 1154 GO:0005942, GO:0005886, GO:0005829, GO:0005575, phosphatidylinositol 3-kinase complex, plasma membrane, cytosol, cellular_component, GO:0046935, GO:0005515, GO:0003674, 1-phosphatidylinositol-3-kinase regulator activity, protein binding, molecular_function, GO:0046854, GO:0043687, GO:0043551, GO:0038111, GO:0035556, GO:0016567, GO:0009968, GO:0007205, GO:0001558, phosphatidylinositol phosphorylation, post-translational protein modification, regulation of phosphatidylinositol 3-kinase activity, interleukin-7-mediated signaling pathway, intracellular signal transduction, protein ubiquitination, negative regulation of signal transduction, protein kinase C-activating G protein-coupled receptor signaling pathway, regulation of cell growth, 56 55 79 72 63 107 111 47 63 ENSG00000114738 chr3 50611520 50649297 + MAPKAPK3 protein_coding This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]. 7867 GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0051019, GO:0009931, GO:0005524, GO:0005516, GO:0005515, GO:0004708, GO:0004683, GO:0004674, protein threonine kinase activity, protein serine kinase activity, mitogen-activated protein kinase binding, calcium-dependent protein serine/threonine kinase activity, ATP binding, calmodulin binding, protein binding, MAP kinase kinase activity, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, GO:0048010, GO:0046777, GO:0044351, GO:0035556, GO:0034097, GO:0034097, GO:0032496, GO:0018105, GO:0018105, GO:0007165, GO:0002224, GO:0002224, GO:0000187, GO:0000165, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, macropinocytosis, intracellular signal transduction, response to cytokine, response to cytokine, response to lipopolysaccharide, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, signal transduction, toll-like receptor signaling pathway, toll-like receptor signaling pathway, activation of MAPK activity, MAPK cascade, 1177 1313 1305 417 953 650 534 854 598 ENSG00000114739 chr3 38453851 38493142 + ACVR2B protein_coding Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]. 93 GO:0048179, GO:0043235, GO:0043235, GO:0032991, GO:0005887, GO:0005886, GO:0005886, GO:0005737, activin receptor complex, receptor complex, receptor complex, protein-containing complex, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0048185, GO:0046872, GO:0019838, GO:0017002, GO:0016362, GO:0005524, GO:0005515, GO:0004712, GO:0004674, GO:0004674, GO:0004674, activin binding, metal ion binding, growth factor binding, activin-activated receptor activity, activin receptor activity, type II, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0120163, GO:0071363, GO:0061298, GO:0060841, GO:0060840, GO:0060836, GO:0060021, GO:0048705, GO:0048617, GO:0045669, GO:0042475, GO:0035265, GO:0032927, GO:0032924, GO:0032924, GO:0032147, GO:0031016, GO:0030509, GO:0030509, GO:0030509, GO:0030501, GO:0030324, GO:0030073, GO:0009952, GO:0009791, GO:0009749, GO:0007507, GO:0007498, GO:0007368, GO:0007178, GO:0007165, GO:0006468, GO:0006355, GO:0001974, GO:0001946, GO:0001822, GO:0001702, GO:0000122, negative regulation of cold-induced thermogenesis, cellular response to growth factor stimulus, retina vasculature development in camera-type eye, venous blood vessel development, artery development, lymphatic endothelial cell differentiation, roof of mouth development, skeletal system morphogenesis, embryonic foregut morphogenesis, positive regulation of osteoblast differentiation, odontogenesis of dentin-containing tooth, organ growth, positive regulation of activin receptor signaling pathway, activin receptor signaling pathway, activin receptor signaling pathway, activation of protein kinase activity, pancreas development, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, lung development, insulin secretion, anterior/posterior pattern specification, post-embryonic development, response to glucose, heart development, mesoderm development, determination of left/right symmetry, transmembrane receptor protein serine/threonine kinase signaling pathway, signal transduction, protein phosphorylation, regulation of transcription, DNA-templated, blood vessel remodeling, lymphangiogenesis, kidney development, gastrulation with mouth forming second, negative regulation of transcription by RNA polymerase II, 13 14 14 23 4 13 24 14 17 ENSG00000114742 chr3 39051998 39096671 + WDR48 protein_coding The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]. 57599 GO:0043231, GO:0005770, GO:0005764, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, late endosome, lysosome, nucleoplasm, nucleus, GO:0043130, GO:0005515, GO:0003697, GO:0003690, GO:0003677, ubiquitin binding, protein binding, single-stranded DNA binding, double-stranded DNA binding, DNA binding, GO:1905168, GO:1903003, GO:1903003, GO:1902525, GO:0072520, GO:0050679, GO:0048872, GO:0048705, GO:0048568, GO:0043588, GO:0042769, GO:0036297, GO:0035264, GO:0016579, GO:0016579, GO:0016032, GO:0007338, GO:0007283, GO:0006974, GO:0000724, positive regulation of double-strand break repair via homologous recombination, positive regulation of protein deubiquitination, positive regulation of protein deubiquitination, regulation of protein monoubiquitination, seminiferous tubule development, positive regulation of epithelial cell proliferation, homeostasis of number of cells, skeletal system morphogenesis, embryonic organ development, skin development, DNA damage response, detection of DNA damage, interstrand cross-link repair, multicellular organism growth, protein deubiquitination, protein deubiquitination, viral process, single fertilization, spermatogenesis, cellular response to DNA damage stimulus, double-strand break repair via homologous recombination, 1007 1249 1470 672 923 853 810 703 670 ENSG00000114744 chr3 149738470 149752499 - COMMD2 protein_coding 51122 GO:0005737, cytoplasm, GO:0005515, protein binding, 131 142 161 56 98 83 74 105 84 ENSG00000114745 chr3 39096659 39108363 - GORASP1 protein_coding The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 64689 GO:0033116, GO:0005794, GO:0005794, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:1904668, GO:0061951, GO:0050774, GO:0048208, GO:0015031, GO:0007030, GO:0007030, GO:0006888, GO:0006487, positive regulation of ubiquitin protein ligase activity, establishment of protein localization to plasma membrane, negative regulation of dendrite morphogenesis, COPII vesicle coating, protein transport, Golgi organization, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, protein N-linked glycosylation, 456 469 565 419 562 539 430 409 538 ENSG00000114757 chr3 179794958 180037053 - PEX5L protein_coding 51555 GO:0043235, GO:0005829, GO:0005778, receptor complex, cytosol, peroxisomal membrane, GO:0031267, GO:0005052, GO:0000268, small GTPase binding, peroxisome matrix targeting signal-1 binding, peroxisome targeting sequence binding, GO:0043949, GO:0016560, regulation of cAMP-mediated signaling, protein import into peroxisome matrix, docking, 1 0 0 0 0 0 0 0 0 ENSG00000114767 chr3 51933430 51941941 - RRP9 protein_coding This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]. 9136 GO:0032040, GO:0031428, GO:0005730, GO:0005654, small-subunit processome, box C/D snoRNP complex, nucleolus, nucleoplasm, GO:0034511, GO:0034511, GO:0030515, GO:0005515, GO:0003723, U3 snoRNA binding, U3 snoRNA binding, snoRNA binding, protein binding, RNA binding, GO:0006364, GO:0006364, GO:0006364, rRNA processing, rRNA processing, rRNA processing, 10 4 9 35 14 26 27 8 15 ENSG00000114770 chr3 183919934 184018015 - ABCC5 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 10057 GO:0016324, GO:0016323, GO:0016323, GO:0016020, GO:0016020, GO:0010008, GO:0005887, GO:0005886, GO:0005886, GO:0005796, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, membrane, membrane, endosome membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi lumen, GO:0042910, GO:0042626, GO:0016887, GO:0015562, GO:0008514, GO:0005524, xenobiotic transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase activity, efflux transmembrane transporter activity, organic anion transmembrane transporter activity, ATP binding, GO:0150104, GO:0140115, GO:0055085, GO:0055085, GO:0042908, GO:0030213, GO:0015711, transport across blood-brain barrier, export across plasma membrane, transmembrane transport, transmembrane transport, xenobiotic transport, hyaluronan biosynthetic process, organic anion transport, 635 708 890 685 928 993 756 644 709 ENSG00000114771 chr3 151814037 151828488 + AADAC protein_coding Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]. 13 GO:0016021, GO:0005789, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0019213, GO:0019213, GO:0017171, GO:0017171, GO:0016787, GO:0016298, GO:0005515, GO:0004806, GO:0004806, GO:0003824, deacetylase activity, deacetylase activity, serine hydrolase activity, serine hydrolase activity, hydrolase activity, lipase activity, protein binding, triglyceride lipase activity, triglyceride lipase activity, catalytic activity, GO:0010898, GO:0010898, GO:0006805, positive regulation of triglyceride catabolic process, positive regulation of triglyceride catabolic process, xenobiotic metabolic process, 0 0 0 0 0 0 3 0 0 ENSG00000114779 chr3 51968510 51983409 - ABHD14B protein_coding 84836 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0016787, GO:0016787, GO:0005515, hydrolase activity, hydrolase activity, protein binding, GO:0050427, GO:0045944, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, positive regulation of transcription by RNA polymerase II, 25 26 39 81 44 107 54 35 106 ENSG00000114784 chr3 40309684 40312424 + EIF1B protein_coding 10289 GO:0016282, GO:0005575, eukaryotic 43S preinitiation complex, cellular_component, GO:0043024, GO:0005515, GO:0003743, GO:0003723, GO:0003723, ribosomal small subunit binding, protein binding, translation initiation factor activity, RNA binding, RNA binding, GO:0006446, GO:0006413, regulation of translational initiation, translational initiation, 781 580 809 342 510 504 415 481 450 ENSG00000114786 chr3 51974706 51989183 + ABHD14A-ACY1 protein_coding This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is distinct due to the use of an alternate start codon relative to the upstream gene. [provided by RefSeq, Oct 2015]. 100526760 0 0 0 0 0 0 0 0 0 ENSG00000114790 chr3 154121003 154257827 + ARHGEF26 protein_coding This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]. 26084 GO:0005829, GO:0001726, cytosol, ruffle, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0097178, GO:0090630, GO:0051056, GO:0043065, GO:0007186, GO:0001886, ruffle assembly, activation of GTPase activity, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, G protein-coupled receptor signaling pathway, endothelial cell morphogenesis, 1 1 0 0 0 0 0 0 0 ENSG00000114796 chr3 183635568 183684477 + KLHL24 protein_coding The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]. 54800 GO:0043204, GO:0031463, GO:0030424, GO:0030057, GO:0005912, GO:0005737, perikaryon, Cul3-RING ubiquitin ligase complex, axon, desmosome, adherens junction, cytoplasm, GO:0005515, protein binding, GO:2000312, GO:0051865, GO:0045109, GO:0016567, regulation of kainate selective glutamate receptor activity, protein autoubiquitination, intermediate filament organization, protein ubiquitination, 1038 1516 1416 1054 1283 1129 1063 1019 869 ENSG00000114805 chr3 155375580 155745067 - PLCH1 protein_coding PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]. 23007 GO:0043231, GO:0005886, GO:0005829, GO:0005737, intracellular membrane-bounded organelle, plasma membrane, cytosol, cytoplasm, GO:0050429, GO:0005509, GO:0004435, calcium-dependent phospholipase C activity, calcium ion binding, phosphatidylinositol phospholipase C activity, GO:0048015, GO:0048015, GO:0043647, GO:0016042, phosphatidylinositol-mediated signaling, phosphatidylinositol-mediated signaling, inositol phosphate metabolic process, lipid catabolic process, 0 1 0 0 0 0 0 0 0 ENSG00000114812 chr3 42489299 42537573 + VIPR1 protein_coding This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 7433 GO:0043235, GO:0005887, GO:0005886, GO:0005886, receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0017046, GO:0017046, GO:0008528, GO:0005515, GO:0004999, GO:0004999, peptide hormone binding, peptide hormone binding, G protein-coupled peptide receptor activity, protein binding, vasoactive intestinal polypeptide receptor activity, vasoactive intestinal polypeptide receptor activity, GO:0008284, GO:0007188, GO:0007187, GO:0007186, GO:0007166, positive regulation of cell population proliferation, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 16 9 28 55 33 53 49 23 43 ENSG00000114841 chr3 52316319 52400491 + DNAH1 protein_coding This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]. 25981 GO:0036156, GO:0036156, GO:0036126, GO:0030286, GO:0005930, GO:0005874, GO:0005858, GO:0005576, inner dynein arm, inner dynein arm, sperm flagellum, dynein complex, axoneme, microtubule, axonemal dynein complex, extracellular region, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0003777, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, microtubule motor activity, GO:0060285, GO:0036159, GO:0030317, GO:0030317, GO:0007288, GO:0007018, GO:0003351, GO:0003341, cilium-dependent cell motility, inner dynein arm assembly, flagellated sperm motility, flagellated sperm motility, sperm axoneme assembly, microtubule-based movement, epithelial cilium movement involved in extracellular fluid movement, cilium movement, 606 720 646 639 678 651 670 518 581 ENSG00000114850 chr3 156540140 156555184 - SSR3 protein_coding The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]. 6747 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0006614, SRP-dependent cotranslational protein targeting to membrane, 231 209 324 198 147 286 214 145 182 ENSG00000114853 chr3 42653684 42665854 + ZBTB47 protein_coding 92999 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 122 128 142 79 187 66 51 126 99 ENSG00000114854 chr3 52451102 52454070 - TNNC1 protein_coding Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]. 7134 GO:1990584, GO:0005861, GO:0005861, GO:0005829, cardiac Troponin complex, troponin complex, troponin complex, cytosol, GO:0051015, GO:0051015, GO:0048306, GO:0048306, GO:0042803, GO:0031014, GO:0031013, GO:0031013, GO:0005515, GO:0005509, GO:0005509, actin filament binding, actin filament binding, calcium-dependent protein binding, calcium-dependent protein binding, protein homodimerization activity, troponin T binding, troponin I binding, troponin I binding, protein binding, calcium ion binding, calcium ion binding, GO:0060048, GO:0060048, GO:0055010, GO:0043462, GO:0032972, GO:0030049, GO:0014883, GO:0010038, GO:0006937, GO:0006937, GO:0006937, GO:0003009, GO:0002086, cardiac muscle contraction, cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, regulation of ATPase activity, regulation of muscle filament sliding speed, muscle filament sliding, transition between fast and slow fiber, response to metal ion, regulation of muscle contraction, regulation of muscle contraction, regulation of muscle contraction, skeletal muscle contraction, diaphragm contraction, 1 0 0 6 1 3 0 1 0 ENSG00000114857 chr3 42600614 42648741 + NKTR protein_coding This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]. 4820 GO:0043231, GO:0005886, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, plasma membrane, cytoplasm, nucleus, GO:0016018, GO:0016018, GO:0003755, GO:0003755, cyclosporin A binding, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, 2590 2600 3081 3203 3348 3680 3742 2356 2896 ENSG00000114859 chr3 184346185 184361651 - CLCN2 protein_coding This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]. 1181 GO:0034707, GO:0005887, GO:0005886, GO:0005886, chloride channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005247, GO:0005247, voltage-gated chloride channel activity, voltage-gated chloride channel activity, GO:1902476, GO:0060689, GO:0060041, GO:0034765, GO:0034220, GO:0032347, GO:0006821, chloride transmembrane transport, cell differentiation involved in salivary gland development, retina development in camera-type eye, regulation of ion transmembrane transport, ion transmembrane transport, regulation of aldosterone biosynthetic process, chloride transport, 18 16 11 13 16 17 23 17 25 ENSG00000114861 chr3 70952817 71583993 - FOXP1 protein_coding This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 27086 GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0050681, GO:0046872, GO:0043621, GO:0042802, GO:0005515, GO:0001227, GO:0001046, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, androgen receptor binding, metal ion binding, protein self-association, identical protein binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, core promoter sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000341, GO:1901509, GO:1901256, GO:1900424, GO:0061470, GO:0060766, GO:0050861, GO:0050727, GO:0048661, GO:0045892, GO:0045892, GO:0045655, GO:0042118, GO:0042117, GO:0042116, GO:0036035, GO:0035019, GO:0032680, GO:0032655, GO:0032651, GO:0032625, GO:0032496, GO:0030316, GO:0010629, GO:0010595, GO:0010468, GO:0006974, GO:0006357, GO:0002903, GO:0000122, regulation of chemokine (C-X-C motif) ligand 2 production, regulation of endothelial tube morphogenesis, regulation of macrophage colony-stimulating factor production, regulation of defense response to bacterium, T follicular helper cell differentiation, negative regulation of androgen receptor signaling pathway, positive regulation of B cell receptor signaling pathway, regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of monocyte differentiation, endothelial cell activation, monocyte activation, macrophage activation, osteoclast development, somatic stem cell population maintenance, regulation of tumor necrosis factor production, regulation of interleukin-12 production, regulation of interleukin-1 beta production, interleukin-21 production, response to lipopolysaccharide, osteoclast differentiation, negative regulation of gene expression, positive regulation of endothelial cell migration, regulation of gene expression, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, negative regulation of B cell apoptotic process, negative regulation of transcription by RNA polymerase II, 363 390 414 469 553 665 508 386 516 ENSG00000114867 chr3 184314495 184335358 + EIF4G1 protein_coding The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010]. 1981 GO:0016281, GO:0016281, GO:0016020, GO:0010494, GO:0005844, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, eukaryotic translation initiation factor 4F complex, eukaryotic translation initiation factor 4F complex, membrane, cytoplasmic stress granule, polysome, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0060090, GO:0042802, GO:0031369, GO:0008190, GO:0008190, GO:0008135, GO:0005524, GO:0005515, GO:0003743, GO:0003743, GO:0003729, GO:0003729, GO:0003723, GO:0003723, molecular adaptor activity, identical protein binding, translation initiation factor binding, eukaryotic initiation factor 4E binding, eukaryotic initiation factor 4E binding, translation factor activity, RNA binding, ATP binding, protein binding, translation initiation factor activity, translation initiation factor activity, mRNA binding, mRNA binding, RNA binding, RNA binding, GO:1905696, GO:1905618, GO:1905612, GO:1905606, GO:1905537, GO:1901215, GO:1900087, GO:0097009, GO:0080135, GO:0060964, GO:0045666, GO:0043488, GO:0036493, GO:0034645, GO:0033138, GO:0032502, GO:0032270, GO:0031669, GO:0030307, GO:0016032, GO:0010942, GO:0010801, GO:0010507, GO:0006446, GO:0006446, GO:0006413, GO:0006413, GO:0006412, GO:0006412, GO:0002191, GO:0001662, GO:0000184, regulation of polysome binding, positive regulation of miRNA mediated inhibition of translation, positive regulation of mRNA cap binding, regulation of presynapse assembly, positive regulation of eukaryotic translation initiation factor 4F complex assembly, negative regulation of neuron death, positive regulation of G1/S transition of mitotic cell cycle, energy homeostasis, regulation of cellular response to stress, regulation of gene silencing by miRNA, positive regulation of neuron differentiation, regulation of mRNA stability, positive regulation of translation in response to endoplasmic reticulum stress, cellular macromolecule biosynthetic process, positive regulation of peptidyl-serine phosphorylation, developmental process, positive regulation of cellular protein metabolic process, cellular response to nutrient levels, positive regulation of cell growth, viral process, positive regulation of cell death, negative regulation of peptidyl-threonine phosphorylation, negative regulation of autophagy, regulation of translational initiation, regulation of translational initiation, translational initiation, translational initiation, translation, translation, cap-dependent translational initiation, behavioral fear response, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1602 1853 1882 1351 1246 1290 1161 987 1093 ENSG00000114902 chr3 52704955 52711146 + SPCS1 protein_coding 28972 GO:0030176, GO:0030176, GO:0005789, GO:0005787, GO:0005787, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, signal peptidase complex, signal peptidase complex, GO:0043022, GO:0008233, GO:0005515, GO:0003674, ribosome binding, peptidase activity, protein binding, molecular_function, GO:0045047, GO:0019082, GO:0019068, GO:0006508, GO:0006465, protein targeting to ER, viral protein processing, virion assembly, proteolysis, signal peptide processing, 224 238 258 136 200 190 134 156 181 ENSG00000114904 chr3 52708449 52770949 - NEK4 protein_coding The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]. 6787 GO:0097014, GO:0036064, GO:0035869, GO:0035253, GO:0005829, GO:0005737, ciliary plasm, ciliary basal body, ciliary transition zone, ciliary rootlet, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0030145, GO:0005524, GO:0004674, protein threonine kinase activity, protein serine kinase activity, manganese ion binding, ATP binding, protein serine/threonine kinase activity, GO:2001020, GO:2000772, GO:0051301, GO:0045893, GO:0006974, GO:0006468, GO:0000278, regulation of response to DNA damage stimulus, regulation of cellular senescence, cell division, positive regulation of transcription, DNA-templated, cellular response to DNA damage stimulus, protein phosphorylation, mitotic cell cycle, 65 93 50 60 77 35 44 54 35 ENSG00000114923 chr2 219627327 219641980 + SLC4A3 protein_coding The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]. 6508 GO:0016020, GO:0009897, GO:0005887, GO:0005886, GO:0005886, membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0022857, GO:0015301, GO:0015106, GO:0005515, GO:0005452, transmembrane transporter activity, anion:anion antiporter activity, bicarbonate transmembrane transporter activity, protein binding, inorganic anion exchanger activity, GO:0150104, GO:0098656, GO:0086001, GO:0061337, GO:0055085, GO:0051453, GO:0050801, GO:0015701, GO:0015701, GO:0015701, GO:0015698, transport across blood-brain barrier, anion transmembrane transport, cardiac muscle cell action potential, cardiac conduction, transmembrane transport, regulation of intracellular pH, ion homeostasis, bicarbonate transport, bicarbonate transport, bicarbonate transport, inorganic anion transport, 0 0 2 4 1 4 6 0 4 ENSG00000114933 chr2 205993721 206086303 - INO80D protein_coding 54891 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0016579, GO:0006310, GO:0006281, protein deubiquitination, DNA recombination, DNA repair, 700 750 809 616 901 937 720 599 694 ENSG00000114942 chr2 206159585 206162928 + EEF1B2 protein_coding This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]. 1933 GO:0005853, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005634, eukaryotic translation elongation factor 1 complex, cytosol, cytosol, endoplasmic reticulum, cytoplasm, nucleus, GO:0005515, GO:0005085, GO:0003746, protein binding, guanyl-nucleotide exchange factor activity, translation elongation factor activity, GO:0006414, GO:0006414, GO:0006414, translational elongation, translational elongation, translational elongation, 371 218 485 1071 441 1028 797 378 656 ENSG00000114948 chr2 206443539 206621130 + ADAM23 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]. 8745 GO:0099056, GO:0005887, GO:0005886, GO:0005576, integral component of presynaptic membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0008237, GO:0005515, GO:0005178, GO:0004222, metallopeptidase activity, protein binding, integrin binding, metalloendopeptidase activity, GO:1990830, GO:0007417, GO:0007155, GO:0006508, cellular response to leukemia inhibitory factor, central nervous system development, cell adhesion, proteolysis, 11 7 4 7 2 9 10 2 0 ENSG00000114956 chr2 73926826 73958961 + DGUOK protein_coding In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 1716 GO:0005829, GO:0005759, GO:0005739, GO:0005737, GO:0005634, cytosol, mitochondrial matrix, mitochondrion, cytoplasm, nucleus, GO:0019136, GO:0005524, GO:0004138, GO:0004138, GO:0004136, deoxynucleoside kinase activity, ATP binding, deoxyguanosine kinase activity, deoxyguanosine kinase activity, deoxyadenosine kinase activity, GO:0046122, GO:0046070, GO:0043101, GO:0042775, GO:0010977, GO:0008617, GO:0006754, GO:0006468, GO:0006170, purine deoxyribonucleoside metabolic process, dGTP metabolic process, purine-containing compound salvage, mitochondrial ATP synthesis coupled electron transport, negative regulation of neuron projection development, guanosine metabolic process, ATP biosynthetic process, protein phosphorylation, dAMP biosynthetic process, 168 209 239 181 201 160 183 143 152 ENSG00000114978 chr2 74152528 74178898 - MOB1A protein_coding The protein encoded by this gene is a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 55233 GO:0070062, GO:0005829, GO:0005829, GO:0005730, GO:0005654, extracellular exosome, cytosol, cytosol, nucleolus, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0035329, GO:0035329, hippo signaling, hippo signaling, 3623 3276 5418 1043 1794 1730 1262 1731 1581 ENSG00000114982 chr2 96593170 96642787 - KANSL3 protein_coding 55683 GO:0044545, GO:0043231, GO:0005654, GO:0005654, GO:0000123, NSL complex, intracellular membrane-bounded organelle, nucleoplasm, nucleoplasm, histone acetyltransferase complex, GO:0046972, GO:0046972, GO:0043996, GO:0043996, GO:0043995, GO:0043995, histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), histone acetyltransferase activity (H4-K5 specific), GO:0045944, GO:0043984, GO:0043984, GO:0043982, GO:0043982, GO:0043981, GO:0043981, positive regulation of transcription by RNA polymerase II, histone H4-K16 acetylation, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H4-K5 acetylation, 332 326 491 343 330 377 342 227 318 ENSG00000114988 chr2 96705929 96740064 - LMAN2L protein_coding This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]. 81562 GO:0030134, GO:0030134, GO:0016021, GO:0005794, GO:0005793, GO:0005789, GO:0005789, GO:0000139, COPII-coated ER to Golgi transport vesicle, COPII-coated ER to Golgi transport vesicle, integral component of membrane, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0046872, GO:0005537, GO:0005537, GO:0005515, metal ion binding, mannose binding, mannose binding, protein binding, GO:0015031, GO:0007030, GO:0007029, GO:0006888, GO:0006888, GO:0006457, protein transport, Golgi organization, endoplasmic reticulum organization, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein folding, 36 22 38 17 19 18 13 26 13 ENSG00000114993 chr2 74425836 74442422 - RTKN protein_coding This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 6242 GO:0005829, GO:0005826, GO:0005575, cytosol, actomyosin contractile ring, cellular_component, GO:0031267, GO:0031267, GO:0005525, GO:0005515, GO:0005095, GO:0005095, small GTPase binding, small GTPase binding, GTP binding, protein binding, GTPase inhibitor activity, GTPase inhibitor activity, GO:0042981, GO:0034260, GO:0031106, GO:0007266, GO:0007165, GO:0006915, GO:0000915, GO:0000281, regulation of apoptotic process, negative regulation of GTPase activity, septin ring organization, Rho protein signal transduction, signal transduction, apoptotic process, actomyosin contractile ring assembly, mitotic cytokinesis, 0 0 2 0 0 1 0 2 2 ENSG00000114999 chr2 112482154 112541739 + TTL protein_coding TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]. 150465 GO:0005876, spindle microtubule, GO:0005524, GO:0004835, ATP binding, tubulin-tyrosine ligase activity, GO:0090235, GO:0045931, GO:0030516, GO:0018166, GO:0000226, regulation of metaphase plate congression, positive regulation of mitotic cell cycle, regulation of axon extension, C-terminal protein-tyrosinylation, microtubule cytoskeleton organization, 72 76 99 60 88 94 66 56 77 ENSG00000115008 chr2 112773915 112784590 - IL1A protein_coding The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]. 3552 GO:0005829, GO:0005615, GO:0005615, GO:0005615, GO:0005576, cytosol, extracellular space, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0005507, GO:0005149, GO:0005125, protein binding, copper ion binding, interleukin-1 receptor binding, cytokine activity, GO:2001240, GO:0097192, GO:0071222, GO:0070498, GO:0051781, GO:0050999, GO:0050714, GO:0046688, GO:0045944, GO:0045840, GO:0045766, GO:0035234, GO:0034605, GO:0033092, GO:0032760, GO:0032755, GO:0032743, GO:0032743, GO:0019221, GO:0019221, GO:0019221, GO:0010628, GO:0010628, GO:0010575, GO:0008285, GO:0006955, GO:0006954, GO:0006915, GO:0002248, GO:0001819, GO:0001660, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway in absence of ligand, cellular response to lipopolysaccharide, interleukin-1-mediated signaling pathway, positive regulation of cell division, regulation of nitric-oxide synthase activity, positive regulation of protein secretion, response to copper ion, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic nuclear division, positive regulation of angiogenesis, ectopic germ cell programmed cell death, cellular response to heat, positive regulation of immature T cell proliferation in thymus, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-2 production, positive regulation of interleukin-2 production, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of gene expression, positive regulation of gene expression, positive regulation of vascular endothelial growth factor production, negative regulation of cell population proliferation, immune response, inflammatory response, apoptotic process, connective tissue replacement involved in inflammatory response wound healing, positive regulation of cytokine production, fever generation, 6 11 63 19 18 151 97 43 159 ENSG00000115009 chr2 227805739 227817564 + CCL20 protein_coding This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. 6364 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0031731, GO:0008009, GO:0005515, CCR chemokine receptor binding, CCR6 chemokine receptor binding, chemokine activity, protein binding, GO:2000406, GO:0072679, GO:0072678, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0060326, GO:0048247, GO:0043547, GO:0042742, GO:0035584, GO:0030593, GO:0019221, GO:0007267, GO:0007186, GO:0007186, GO:0007165, GO:0006955, GO:0006954, GO:0006935, GO:0002548, positive regulation of T cell migration, thymocyte migration, T cell migration, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, cell chemotaxis, lymphocyte chemotaxis, positive regulation of GTPase activity, defense response to bacterium, calcium-mediated signaling using intracellular calcium source, neutrophil chemotaxis, cytokine-mediated signaling pathway, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, immune response, inflammatory response, chemotaxis, monocyte chemotaxis, 3 5 28 5 0 24 4 10 23 ENSG00000115020 chr2 208266267 208358751 + PIKFYVE protein_coding Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]. 200576 GO:0045121, GO:0043231, GO:0031902, GO:0031901, GO:0031901, GO:0030670, GO:0010008, GO:0000139, membrane raft, intracellular membrane-bounded organelle, late endosome membrane, early endosome membrane, early endosome membrane, phagocytic vesicle membrane, endosome membrane, Golgi membrane, GO:0106311, GO:0106310, GO:0052810, GO:0052810, GO:0046872, GO:0043813, GO:0016308, GO:0005524, GO:0005515, GO:0004674, GO:0000285, GO:0000285, protein threonine kinase activity, protein serine kinase activity, 1-phosphatidylinositol-5-kinase activity, 1-phosphatidylinositol-5-kinase activity, metal ion binding, phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity, 1-phosphatidylinositol-4-phosphate 5-kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, 1-phosphatidylinositol-3-phosphate 5-kinase activity, 1-phosphatidylinositol-3-phosphate 5-kinase activity, GO:2000785, GO:1904562, GO:1904562, GO:1903426, GO:1903100, GO:0090385, GO:0090382, GO:0046854, GO:0042147, GO:0036289, GO:0036092, GO:0035556, GO:0034504, GO:0032438, GO:0030593, GO:0019886, GO:0019065, GO:0006898, GO:0006661, GO:0006612, regulation of autophagosome assembly, phosphatidylinositol 5-phosphate metabolic process, phosphatidylinositol 5-phosphate metabolic process, regulation of reactive oxygen species biosynthetic process, 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process, phagosome-lysosome fusion, phagosome maturation, phosphatidylinositol phosphorylation, retrograde transport, endosome to Golgi, peptidyl-serine autophosphorylation, phosphatidylinositol-3-phosphate biosynthetic process, intracellular signal transduction, protein localization to nucleus, melanosome organization, neutrophil chemotaxis, antigen processing and presentation of exogenous peptide antigen via MHC class II, receptor-mediated endocytosis of virus by host cell, receptor-mediated endocytosis, phosphatidylinositol biosynthetic process, protein targeting to membrane, 1376 1575 1609 823 1288 1133 995 922 1030 ENSG00000115041 chr2 95297304 95386083 + KCNIP3 protein_coding This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 30818 GO:0043679, GO:0032993, GO:0030425, GO:0008076, GO:0005886, GO:0005829, GO:0005794, GO:0005783, GO:0005634, axon terminus, protein-DNA complex, dendrite, voltage-gated potassium channel complex, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, nucleus, GO:0044325, GO:0015459, GO:0005515, GO:0005509, GO:0005267, GO:0005244, GO:0001227, GO:0000978, ion channel binding, potassium channel regulator activity, protein binding, calcium ion binding, potassium channel activity, voltage-gated ion channel activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901379, GO:0072659, GO:0071805, GO:0061337, GO:0007165, GO:0006915, GO:0006886, GO:0000122, regulation of potassium ion transmembrane transport, protein localization to plasma membrane, potassium ion transmembrane transport, cardiac conduction, signal transduction, apoptotic process, intracellular protein transport, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000115042 chr2 95402721 95416616 + FAHD2A protein_coding 51011 GO:0046872, GO:0016836, GO:0016787, GO:0005515, metal ion binding, hydro-lyase activity, hydrolase activity, protein binding, 5 4 22 34 11 38 34 8 24 ENSG00000115053 chr2 231453531 231483641 - NCL protein_coding Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008]. 4691 GO:1990904, GO:0070062, GO:0036464, GO:0016020, GO:0005938, GO:0005730, GO:0005681, GO:0005654, GO:0005634, ribonucleoprotein complex, extracellular exosome, cytoplasmic ribonucleoprotein granule, membrane, cell cortex, nucleolus, spliceosomal complex, nucleoplasm, nucleus, GO:0048027, GO:0044547, GO:0042802, GO:0042162, GO:0008022, GO:0005515, GO:0003723, GO:0003723, mRNA 5'-UTR binding, DNA topoisomerase binding, identical protein binding, telomeric DNA binding, protein C-terminus binding, protein binding, RNA binding, RNA binding, GO:1990830, GO:1901838, GO:0071364, GO:0048026, GO:0045944, GO:0017148, GO:0001525, cellular response to leukemia inhibitory factor, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, cellular response to epidermal growth factor stimulus, positive regulation of mRNA splicing, via spliceosome, positive regulation of transcription by RNA polymerase II, negative regulation of translation, angiogenesis, 756 858 1217 1905 1314 1742 1314 765 1105 ENSG00000115073 chr2 97655963 97664107 - ACTR1B protein_coding This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]. 10120 GO:1904813, GO:0070062, GO:0034774, GO:0016020, GO:0015630, GO:0005869, GO:0005829, GO:0005813, GO:0005737, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, membrane, microtubule cytoskeleton, dynactin complex, cytosol, centrosome, cytoplasm, extracellular region, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0043312, GO:0019886, neutrophil degranulation, antigen processing and presentation of exogenous peptide antigen via MHC class II, 133 149 243 171 146 188 150 128 158 ENSG00000115084 chr2 113705011 113756823 - SLC35F5 protein_coding 80255 GO:0016021, integral component of membrane, 515 518 708 292 427 360 406 377 396 ENSG00000115085 chr2 97713560 97739862 + ZAP70 protein_coding This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7535 GO:0045121, GO:0042101, GO:0031234, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0001772, membrane raft, T cell receptor complex, extrinsic component of cytoplasmic side of plasma membrane, cell-cell junction, plasma membrane, plasma membrane, cytosol, cytoplasm, immunological synapse, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004715, GO:0004715, GO:0004713, GO:0004713, GO:0001784, GO:0001784, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, phosphotyrosine residue binding, phosphotyrosine residue binding, GO:0072678, GO:0070489, GO:0050852, GO:0050850, GO:0046641, GO:0046638, GO:0045582, GO:0045087, GO:0045060, GO:0045059, GO:0043366, GO:0042127, GO:0042113, GO:0042110, GO:0038083, GO:0035556, GO:0030217, GO:0030154, GO:0018108, GO:0018108, GO:0007169, GO:0006955, GO:0006468, GO:0006468, GO:0002250, T cell migration, T cell aggregation, T cell receptor signaling pathway, positive regulation of calcium-mediated signaling, positive regulation of alpha-beta T cell proliferation, positive regulation of alpha-beta T cell differentiation, positive regulation of T cell differentiation, innate immune response, negative thymic T cell selection, positive thymic T cell selection, beta selection, regulation of cell population proliferation, B cell activation, T cell activation, peptidyl-tyrosine autophosphorylation, intracellular signal transduction, T cell differentiation, cell differentiation, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, transmembrane receptor protein tyrosine kinase signaling pathway, immune response, protein phosphorylation, protein phosphorylation, adaptive immune response, 171 148 393 611 121 700 518 148 494 ENSG00000115091 chr2 113889960 113962596 + ACTR3 protein_coding The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]. 10096 GO:0070062, GO:0035861, GO:0030027, GO:0016020, GO:0015629, GO:0005925, GO:0005911, GO:0005903, GO:0005885, GO:0005885, GO:0005885, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, site of double-strand break, lamellipodium, membrane, actin cytoskeleton, focal adhesion, cell-cell junction, brush border, Arp2/3 protein complex, Arp2/3 protein complex, Arp2/3 protein complex, cytosol, cytoplasm, nucleus, GO:0051015, GO:0051015, GO:0005524, GO:0005515, GO:0005200, actin filament binding, actin filament binding, ATP binding, protein binding, structural constituent of cytoskeleton, GO:0071346, GO:0070358, GO:0061024, GO:0060271, GO:0051653, GO:0048013, GO:0045944, GO:0038096, GO:0034314, GO:0034314, GO:0033206, GO:0016344, GO:0010592, GO:0008356, GO:0007163, cellular response to interferon-gamma, actin polymerization-dependent cell motility, membrane organization, cilium assembly, spindle localization, ephrin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, Fc-gamma receptor signaling pathway involved in phagocytosis, Arp2/3 complex-mediated actin nucleation, Arp2/3 complex-mediated actin nucleation, meiotic cytokinesis, meiotic chromosome movement towards spindle pole, positive regulation of lamellipodium assembly, asymmetric cell division, establishment or maintenance of cell polarity, 7110 5515 9012 3129 4703 5005 3684 4179 4164 ENSG00000115107 chr2 119223831 119265652 + STEAP3 protein_coding This gene encodes a multipass membrane protein that functions as an iron transporter. The encoded protein can reduce both iron (Fe3+) and copper (Cu2+) cations. This protein may mediate downstream responses to p53, including promoting apoptosis. Deficiency in this gene can cause anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 55240 GO:0016021, GO:0010008, GO:0005886, GO:0005771, GO:0005768, GO:0005737, integral component of membrane, endosome membrane, plasma membrane, multivesicular body, endosome, cytoplasm, GO:0052851, GO:0046872, GO:0008823, GO:0005515, ferric-chelate reductase (NADPH) activity, metal ion binding, cupric reductase activity, protein binding, GO:0055114, GO:0055072, GO:0042981, GO:0033572, GO:0015677, GO:0009306, GO:0009306, GO:0007049, GO:0006915, oxidation-reduction process, iron ion homeostasis, regulation of apoptotic process, transferrin transport, copper ion import, protein secretion, protein secretion, cell cycle, apoptotic process, 0 3 1 0 0 0 3 5 0 ENSG00000115109 chr2 120013005 120179119 + EPB41L5 protein_coding 57669 GO:0032587, GO:0005925, GO:0005912, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005654, ruffle membrane, focal adhesion, adherens junction, plasma membrane, cytoskeleton, cytosol, cytosol, nucleoplasm, GO:0019904, GO:0008092, GO:0005515, protein domain specific binding, cytoskeletal protein binding, protein binding, GO:0071560, GO:0070986, GO:0070201, GO:0051894, GO:0048617, GO:0048339, GO:0048319, GO:0032525, GO:0032092, GO:0032091, GO:0031032, GO:0022408, GO:0010634, GO:0010608, GO:0009826, GO:0007509, GO:0007492, GO:0007398, GO:0006931, GO:0003383, GO:0001839, GO:0001837, GO:0001701, cellular response to transforming growth factor beta stimulus, left/right axis specification, regulation of establishment of protein localization, positive regulation of focal adhesion assembly, embryonic foregut morphogenesis, paraxial mesoderm development, axial mesoderm morphogenesis, somite rostral/caudal axis specification, positive regulation of protein binding, negative regulation of protein binding, actomyosin structure organization, negative regulation of cell-cell adhesion, positive regulation of epithelial cell migration, posttranscriptional regulation of gene expression, unidimensional cell growth, mesoderm migration involved in gastrulation, endoderm development, ectoderm development, substrate-dependent cell migration, cell attachment to substrate, apical constriction, neural plate morphogenesis, epithelial to mesenchymal transition, in utero embryonic development, 25 36 37 19 34 66 28 38 35 ENSG00000115112 chr2 121216587 121285207 - TFCP2L1 protein_coding 29842 GO:0016020, GO:0005737, GO:0005634, GO:0000785, membrane, cytoplasm, nucleus, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045927, GO:0008340, GO:0007431, GO:0007028, GO:0006357, GO:0006357, GO:0002070, GO:0000902, GO:0000122, positive regulation of growth, determination of adult lifespan, salivary gland development, cytoplasm organization, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, epithelial cell maturation, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 4 1 23 6 0 14 0 0 12 ENSG00000115128 chr2 24067584 24076443 - SF3B6 protein_coding This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008]. 51639 GO:0071013, GO:0071011, GO:0005689, GO:0005689, GO:0005686, GO:0005684, GO:0005654, GO:0005634, catalytic step 2 spliceosome, precatalytic spliceosome, U12-type spliceosomal complex, U12-type spliceosomal complex, U2 snRNP, U2-type spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0001825, GO:0000398, GO:0000398, GO:0000398, blastocyst formation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 538 379 563 197 368 288 273 382 271 ENSG00000115129 chr2 24077433 24085861 - TP53I3 protein_coding The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 9540 GO:0005829, cytosol, GO:0070402, GO:0070402, GO:0048038, GO:0048038, GO:0042803, GO:0003960, GO:0003960, NADPH binding, NADPH binding, quinone binding, quinone binding, protein homodimerization activity, NADPH:quinone reductase activity, NADPH:quinone reductase activity, GO:0055114, GO:0042981, GO:0006739, oxidation-reduction process, regulation of apoptotic process, NADP metabolic process, 26 30 42 22 32 33 29 19 48 ENSG00000115137 chr2 24943636 24972094 - DNAJC27 protein_coding 51277 GO:0005634, nucleus, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0071701, GO:0070374, GO:0006886, regulation of MAPK export from nucleus, positive regulation of ERK1 and ERK2 cascade, intracellular protein transport, 91 98 117 135 99 113 97 79 63 ENSG00000115138 chr2 25160853 25168903 - POMC protein_coding This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]. 5443 GO:0034774, GO:0030141, GO:0030141, GO:0005737, GO:0005615, GO:0005615, GO:0005576, secretory granule lumen, secretory granule, secretory granule, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0070996, GO:0070996, GO:0031782, GO:0031781, GO:0005515, GO:0005179, GO:0005179, GO:0005102, GO:0001664, GO:0001664, type 1 melanocortin receptor binding, type 1 melanocortin receptor binding, type 4 melanocortin receptor binding, type 3 melanocortin receptor binding, protein binding, hormone activity, hormone activity, signaling receptor binding, G protein-coupled receptor binding, G protein-coupled receptor binding, GO:2000852, GO:0070873, GO:0045944, GO:0042593, GO:0033059, GO:0032720, GO:0032098, GO:0019221, GO:0008217, GO:0007267, GO:0007218, GO:0007186, GO:0007165, GO:0006091, regulation of corticosterone secretion, regulation of glycogen metabolic process, positive regulation of transcription by RNA polymerase II, glucose homeostasis, cellular pigmentation, negative regulation of tumor necrosis factor production, regulation of appetite, cytokine-mediated signaling pathway, regulation of blood pressure, cell-cell signaling, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, generation of precursor metabolites and energy, 6 4 7 7 7 26 2 0 8 ENSG00000115145 chr2 152116801 152175992 - STAM2 protein_coding The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]. 10254 GO:0043231, GO:0043231, GO:0033565, GO:0031901, GO:0030139, GO:0005829, GO:0005829, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, ESCRT-0 complex, early endosome membrane, endocytic vesicle, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0061024, GO:0042059, GO:0036258, GO:0016579, GO:0016236, GO:0016197, GO:0007165, GO:0006886, membrane organization, negative regulation of epidermal growth factor receptor signaling pathway, multivesicular body assembly, protein deubiquitination, macroautophagy, endosomal transport, signal transduction, intracellular protein transport, 425 407 452 267 360 345 317 366 252 ENSG00000115155 chr2 26457203 26558698 - OTOF protein_coding Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9381 GO:0048787, GO:0042995, GO:0030672, GO:0030672, GO:0016323, GO:0016021, GO:0005829, GO:0005789, GO:0000139, presynaptic active zone membrane, cell projection, synaptic vesicle membrane, synaptic vesicle membrane, basolateral plasma membrane, integral component of membrane, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0035612, GO:0005509, GO:0005509, GO:0003674, AP-2 adaptor complex binding, calcium ion binding, calcium ion binding, molecular_function, GO:0061025, GO:0016082, GO:0016079, GO:0007605, GO:0007009, membrane fusion, synaptic vesicle priming, synaptic vesicle exocytosis, sensory perception of sound, plasma membrane organization, 2 1 1 0 1 0 0 2 8 ENSG00000115159 chr2 156435290 156613735 + GPD2 protein_coding The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]. 2820 GO:0009331, GO:0005743, GO:0005739, glycerol-3-phosphate dehydrogenase complex, mitochondrial inner membrane, mitochondrion, GO:0052591, GO:0005509, GO:0004368, sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity, calcium ion binding, glycerol-3-phosphate dehydrogenase (quinone) activity, GO:0043010, GO:0035264, GO:0019563, GO:0006127, GO:0006094, GO:0006072, camera-type eye development, multicellular organism growth, glycerol catabolic process, glycerophosphate shuttle, gluconeogenesis, glycerol-3-phosphate metabolic process, 231 151 264 218 177 252 245 124 212 ENSG00000115163 chr2 26764289 26801067 + CENPA protein_coding Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]. 1058 GO:0005829, GO:0005721, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000939, GO:0000786, GO:0000779, GO:0000778, GO:0000775, cytosol, pericentric heterochromatin, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, condensed chromosome inner kinetochore, nucleosome, condensed chromosome, centromeric region, condensed nuclear chromosome kinetochore, chromosome, centromeric region, GO:0046982, GO:0005515, GO:0003682, GO:0003677, protein heterodimerization activity, protein binding, chromatin binding, DNA binding, GO:0071459, GO:0051382, GO:0034080, GO:0016032, GO:0000281, GO:0000132, protein localization to chromosome, centromeric region, kinetochore assembly, CENP-A containing nucleosome assembly, viral process, mitotic cytokinesis, establishment of mitotic spindle orientation, 0 3 1 3 0 3 2 0 2 ENSG00000115165 chr2 157414619 157488961 - CYTIP protein_coding The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008]. 9595 GO:0005938, GO:0005938, GO:0005829, GO:0005769, GO:0005737, GO:0005654, cell cortex, cell cortex, cytosol, early endosome, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0030155, GO:0030155, regulation of cell adhesion, regulation of cell adhesion, 9039 11397 9549 1986 4799 3204 2517 4184 3144 ENSG00000115170 chr2 157736444 157875862 - ACVR1 protein_coding Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]. 90 GO:0070724, GO:0048179, GO:0045177, GO:0043235, GO:0005887, GO:0005886, BMP receptor complex, activin receptor complex, apical part of cell, receptor complex, integral component of plasma membrane, plasma membrane, GO:1990782, GO:0050431, GO:0048185, GO:0046872, GO:0046332, GO:0046332, GO:0045296, GO:0042803, GO:0017046, GO:0016361, GO:0005524, GO:0005515, GO:0005025, GO:0004675, GO:0004674, GO:0004674, GO:0004672, protein tyrosine kinase binding, transforming growth factor beta binding, activin binding, metal ion binding, SMAD binding, SMAD binding, cadherin binding, protein homodimerization activity, peptide hormone binding, activin receptor activity, type I, ATP binding, protein binding, transforming growth factor beta receptor activity, type I, transmembrane receptor protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2001237, GO:2000017, GO:1905007, GO:0071773, GO:0071363, GO:0061445, GO:0061312, GO:0060923, GO:0060412, GO:0060389, GO:0060037, GO:0051145, GO:0050731, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045669, GO:0032926, GO:0032924, GO:0032924, GO:0030509, GO:0030509, GO:0030501, GO:0030335, GO:0030278, GO:0018107, GO:0010862, GO:0010862, GO:0009968, GO:0009953, GO:0007507, GO:0007368, GO:0007281, GO:0007179, GO:0007179, GO:0006468, GO:0006468, GO:0003289, GO:0003289, GO:0003274, GO:0003203, GO:0003183, GO:0003181, GO:0003148, GO:0003143, GO:0002526, GO:0001755, GO:0001707, GO:0001702, GO:0001701, GO:0001569, GO:0001525, GO:0000082, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of determination of dorsal identity, positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, cellular response to BMP stimulus, cellular response to growth factor stimulus, endocardial cushion cell fate commitment, BMP signaling pathway involved in heart development, cardiac muscle cell fate commitment, ventricular septum morphogenesis, pathway-restricted SMAD protein phosphorylation, pharyngeal system development, smooth muscle cell differentiation, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of osteoblast differentiation, negative regulation of activin receptor signaling pathway, activin receptor signaling pathway, activin receptor signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, positive regulation of cell migration, regulation of ossification, peptidyl-threonine phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of signal transduction, dorsal/ventral pattern formation, heart development, determination of left/right symmetry, germ cell development, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, protein phosphorylation, protein phosphorylation, atrial septum primum morphogenesis, atrial septum primum morphogenesis, endocardial cushion fusion, endocardial cushion morphogenesis, mitral valve morphogenesis, atrioventricular valve morphogenesis, outflow tract septum morphogenesis, embryonic heart tube morphogenesis, acute inflammatory response, neural crest cell migration, mesoderm formation, gastrulation with mouth forming second, in utero embryonic development, branching involved in blood vessel morphogenesis, angiogenesis, G1/S transition of mitotic cell cycle, 35 21 20 43 19 13 52 10 33 ENSG00000115183 chr2 158968671 159232659 + TANC1 protein_coding 85461 GO:0043679, GO:0043025, GO:0030425, GO:0014069, axon terminus, neuronal cell body, dendrite, postsynaptic density, GO:0005515, protein binding, GO:0097062, GO:0008542, GO:0007520, dendritic spine maintenance, visual learning, myoblast fusion, 0 0 1 0 4 2 1 1 0 ENSG00000115194 chr2 27253684 27275817 - SLC30A3 protein_coding 7781 GO:0098686, GO:0043005, GO:0031902, GO:0030672, GO:0016020, GO:0008021, GO:0005887, GO:0005886, GO:0005770, GO:0005768, GO:0005765, GO:0005737, hippocampal mossy fiber to CA3 synapse, neuron projection, late endosome membrane, synaptic vesicle membrane, membrane, synaptic vesicle, integral component of plasma membrane, plasma membrane, late endosome, endosome, lysosomal membrane, cytoplasm, GO:0015633, GO:0005515, GO:0005385, ATPase-coupled zinc transmembrane transporter activity, protein binding, zinc ion transmembrane transporter activity, GO:0099180, GO:0071577, GO:0061088, GO:0061088, GO:0051050, GO:0010043, zinc ion import into synaptic vesicle, zinc ion transmembrane transport, regulation of sequestering of zinc ion, regulation of sequestering of zinc ion, positive regulation of transport, response to zinc ion, 0 0 0 1 0 0 0 0 0 ENSG00000115204 chr2 27309492 27325680 - MPV17 protein_coding This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]. 4358 GO:0016021, GO:0005829, GO:0005778, GO:0005777, GO:0005777, GO:0005743, GO:0005739, GO:0005737, integral component of membrane, cytosol, peroxisomal membrane, peroxisome, peroxisome, mitochondrial inner membrane, mitochondrion, cytoplasm, GO:0015267, channel activity, GO:2000377, GO:1901858, GO:0055085, GO:0048839, GO:0042592, GO:0034614, GO:0032836, GO:0006625, GO:0000002, regulation of reactive oxygen species metabolic process, regulation of mitochondrial DNA metabolic process, transmembrane transport, inner ear development, homeostatic process, cellular response to reactive oxygen species, glomerular basement membrane development, protein targeting to peroxisome, mitochondrial genome maintenance, 32 39 56 93 100 125 94 77 69 ENSG00000115207 chr2 27325849 27357034 - GTF3C2 protein_coding 2976 GO:0005654, GO:0005654, GO:0000127, GO:0000127, nucleoplasm, nucleoplasm, transcription factor TFIIIC complex, transcription factor TFIIIC complex, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0042797, GO:0042791, GO:0006383, GO:0006383, tRNA transcription by RNA polymerase III, 5S class rRNA transcription by RNA polymerase III, transcription by RNA polymerase III, transcription by RNA polymerase III, 184 251 239 158 205 297 180 183 183 ENSG00000115211 chr2 27364352 27370486 - EIF2B4 protein_coding Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8890 GO:0005851, GO:0005829, GO:0005737, eukaryotic translation initiation factor 2B complex, cytosol, cytoplasm, GO:0031369, GO:0005515, GO:0005085, GO:0005085, GO:0003743, translation initiation factor binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, translation initiation factor activity, GO:0050852, GO:0043434, GO:0042552, GO:0014003, GO:0009749, GO:0009408, GO:0009408, GO:0006417, GO:0006413, GO:0001541, T cell receptor signaling pathway, response to peptide hormone, myelination, oligodendrocyte development, response to glucose, response to heat, response to heat, regulation of translation, translational initiation, ovarian follicle development, 36 57 48 94 123 108 73 80 92 ENSG00000115216 chr2 27427790 27442259 + NRBP1 protein_coding 29959 GO:0030027, GO:0016020, GO:0012505, GO:0012505, GO:0005938, GO:0005737, GO:0005654, lamellipodium, membrane, endomembrane system, endomembrane system, cell cortex, cytoplasm, nucleoplasm, GO:0042803, GO:0005524, GO:0005515, GO:0004674, protein homodimerization activity, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0035556, GO:0006888, GO:0006888, GO:0006468, GO:0006367, intracellular signal transduction, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein phosphorylation, transcription initiation from RNA polymerase II promoter, 1390 1520 1620 1043 1431 1501 1100 1118 1052 ENSG00000115221 chr2 160099666 160200313 - ITGB6 protein_coding This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 3694 GO:0043235, GO:0034685, GO:0034685, GO:0030054, GO:0009986, GO:0008305, GO:0008305, GO:0005925, GO:0005925, GO:0005886, GO:0005813, GO:0005654, receptor complex, integrin alphav-beta6 complex, integrin alphav-beta6 complex, cell junction, cell surface, integrin complex, integrin complex, focal adhesion, focal adhesion, plasma membrane, centrosome, nucleoplasm, GO:0038023, GO:0005515, GO:0005178, GO:0001618, signaling receptor activity, protein binding, integrin binding, virus receptor activity, GO:1901388, GO:0046718, GO:0033627, GO:0033627, GO:0030198, GO:0016477, GO:0007229, GO:0007160, GO:0007155, regulation of transforming growth factor beta activation, viral entry into host cell, cell adhesion mediated by integrin, cell adhesion mediated by integrin, extracellular matrix organization, cell migration, integrin-mediated signaling pathway, cell-matrix adhesion, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000115226 chr2 27491883 27495245 - FNDC4 protein_coding 64838 GO:0016021, GO:0005886, GO:0005886, GO:0005783, GO:0005615, GO:0005576, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum, extracellular space, extracellular region, GO:0071559, GO:0050728, GO:0050728, response to transforming growth factor beta, negative regulation of inflammatory response, negative regulation of inflammatory response, 3 0 0 0 0 0 0 0 0 ENSG00000115232 chr2 181457202 181536187 + ITGA4 protein_coding The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 3676 GO:0070062, GO:0043025, GO:0034669, GO:0034668, GO:0030426, GO:0016020, GO:0009986, GO:0005925, GO:0005886, GO:0005886, extracellular exosome, neuronal cell body, integrin alpha4-beta7 complex, integrin alpha4-beta1 complex, growth cone, membrane, cell surface, focal adhesion, plasma membrane, plasma membrane, GO:1990405, GO:0050839, GO:0050839, GO:0046872, GO:0019960, GO:0015026, GO:0005515, GO:0005178, GO:0001968, protein antigen binding, cell adhesion molecule binding, cell adhesion molecule binding, metal ion binding, C-X3-C chemokine binding, coreceptor activity, protein binding, integrin binding, fibronectin binding, GO:2000406, GO:2000353, GO:1990771, GO:1990138, GO:1905564, GO:1904646, GO:1903238, GO:0140039, GO:0098657, GO:0090074, GO:0071345, GO:0060385, GO:0050904, GO:0050901, GO:0050900, GO:0050776, GO:0043113, GO:0035987, GO:0034446, GO:0034113, GO:0034113, GO:0033631, GO:0030198, GO:0030183, GO:0007229, GO:0007160, GO:0007159, GO:0003366, positive regulation of T cell migration, positive regulation of endothelial cell apoptotic process, clathrin-dependent extracellular exosome endocytosis, neuron projection extension, positive regulation of vascular endothelial cell proliferation, cellular response to amyloid-beta, positive regulation of leukocyte tethering or rolling, cell-cell adhesion in response to extracellular stimulus, import into cell, negative regulation of protein homodimerization activity, cellular response to cytokine stimulus, axonogenesis involved in innervation, diapedesis, leukocyte tethering or rolling, leukocyte migration, regulation of immune response, receptor clustering, endodermal cell differentiation, substrate adhesion-dependent cell spreading, heterotypic cell-cell adhesion, heterotypic cell-cell adhesion, cell-cell adhesion mediated by integrin, extracellular matrix organization, B cell differentiation, integrin-mediated signaling pathway, cell-matrix adhesion, leukocyte cell-cell adhesion, cell-matrix adhesion involved in ameboidal cell migration, 759 756 1137 878 505 1105 931 432 803 ENSG00000115233 chr2 161308038 161411717 + PSMD14 protein_coding This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]. 10213 GO:1904813, GO:0034774, GO:0031597, GO:0022624, GO:0008541, GO:0008541, GO:0005829, GO:0005654, GO:0005634, GO:0005576, GO:0000502, GO:0000502, ficolin-1-rich granule lumen, secretory granule lumen, cytosolic proteasome complex, proteasome accessory complex, proteasome regulatory particle, lid subcomplex, proteasome regulatory particle, lid subcomplex, cytosol, nucleoplasm, nucleus, extracellular region, proteasome complex, proteasome complex, GO:0070628, GO:0070628, GO:0070122, GO:0061578, GO:0061133, GO:0046872, GO:0008237, GO:0008237, GO:0005515, GO:0004843, GO:0004843, GO:0004843, proteasome binding, proteasome binding, isopeptidase activity, Lys63-specific deubiquitinase activity, endopeptidase activator activity, metal ion binding, metallopeptidase activity, metallopeptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070536, GO:0070536, GO:0070498, GO:0061418, GO:0061136, GO:0060071, GO:0055085, GO:0050852, GO:0045471, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016579, GO:0010972, GO:0010950, GO:0006521, GO:0006511, GO:0006303, GO:0002479, GO:0002223, GO:0000724, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, protein K63-linked deubiquitination, protein K63-linked deubiquitination, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of proteasomal protein catabolic process, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, response to ethanol, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, positive regulation of endopeptidase activity, regulation of cellular amino acid metabolic process, ubiquitin-dependent protein catabolic process, double-strand break repair via nonhomologous end joining, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, double-strand break repair via homologous recombination, protein polyubiquitination, MAPK cascade, 10 12 40 52 15 31 45 12 38 ENSG00000115234 chr2 27370496 27377533 + SNX17 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]. 9784 GO:0043231, GO:0032991, GO:0031410, GO:0030659, GO:0016020, GO:0010008, GO:0005829, GO:0005794, GO:0005769, GO:0005769, GO:0005768, intracellular membrane-bounded organelle, protein-containing complex, cytoplasmic vesicle, cytoplasmic vesicle membrane, membrane, endosome membrane, cytosol, Golgi apparatus, early endosome, early endosome, endosome, GO:0050750, GO:0035091, GO:0035091, GO:0008022, GO:0005515, GO:0005102, low-density lipoprotein particle receptor binding, phosphatidylinositol binding, phosphatidylinositol binding, protein C-terminus binding, protein binding, signaling receptor binding, GO:1990126, GO:1990126, GO:0060976, GO:0035904, GO:0032456, GO:0030100, GO:0016197, GO:0007165, GO:0006898, GO:0006886, GO:0006886, GO:0006707, GO:0003279, GO:0001822, retrograde transport, endosome to plasma membrane, retrograde transport, endosome to plasma membrane, coronary vasculature development, aorta development, endocytic recycling, regulation of endocytosis, endosomal transport, signal transduction, receptor-mediated endocytosis, intracellular protein transport, intracellular protein transport, cholesterol catabolic process, cardiac septum development, kidney development, 279 309 281 460 525 590 452 454 375 ENSG00000115239 chr2 53532672 53787610 - ASB3 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]. 51130 GO:0030315, GO:0005829, T-tubule, cytosol, GO:0005515, protein binding, GO:0055117, GO:0043687, GO:0036371, GO:0035556, GO:0016567, regulation of cardiac muscle contraction, post-translational protein modification, protein localization to T-tubule, intracellular signal transduction, protein ubiquitination, 11 7 18 11 11 7 12 5 19 ENSG00000115241 chr2 27381194 27409687 - PPM1G protein_coding The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010]. 5496 GO:0016020, GO:0005737, GO:0005654, GO:0005654, membrane, cytoplasm, nucleoplasm, nucleoplasm, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004724, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, magnesium-dependent protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:0035970, GO:0007050, GO:0006470, GO:0006470, peptidyl-threonine dephosphorylation, cell cycle arrest, protein dephosphorylation, protein dephosphorylation, 298 262 376 236 260 260 224 250 225 ENSG00000115252 chr2 182140036 182523192 - PDE1A protein_coding Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009]. 5136 GO:0043025, GO:0005829, neuronal cell body, cytosol, GO:0048101, GO:0048101, GO:0046872, GO:0005516, GO:0004117, GO:0004114, calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity, calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, calmodulin binding, calmodulin-dependent cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0007186, GO:0007165, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 4 0 0 1 0 0 ENSG00000115255 chr19 1490747 1497927 + REEP6 protein_coding The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]. 92840 GO:0045177, GO:0044317, GO:0030665, GO:0016021, GO:0005789, GO:0005783, GO:0005634, GO:0001917, apical part of cell, rod spherule, clathrin-coated vesicle membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, photoreceptor inner segment, GO:0005515, protein binding, GO:0050908, GO:0032386, detection of light stimulus involved in visual perception, regulation of intracellular transport, 0 0 0 6 0 2 3 2 4 ENSG00000115257 chr19 1481428 1490752 - PCSK4 protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014]. 54760 GO:0030173, GO:0016020, GO:0005802, GO:0002080, GO:0001669, integral component of Golgi membrane, membrane, trans-Golgi network, acrosomal membrane, acrosomal vesicle, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0048240, GO:0022414, GO:0016486, GO:0016485, GO:0016485, GO:0009566, GO:0007340, GO:0007339, sperm capacitation, reproductive process, peptide hormone processing, protein processing, protein processing, fertilization, acrosome reaction, binding of sperm to zona pellucida, 0 4 0 4 6 2 0 2 0 ENSG00000115263 chr2 162142873 162152404 - GCG protein_coding The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon. [provided by RefSeq, Jul 2008]. 2641 GO:0034774, GO:0005788, GO:0005615, GO:0005615, GO:0005576, secretory granule lumen, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0031769, GO:0005515, GO:0005179, GO:0005102, identical protein binding, glucagon receptor binding, protein binding, hormone activity, signaling receptor binding, GO:1900118, GO:0090280, GO:0071377, GO:0070374, GO:0051571, GO:0050796, GO:0050796, GO:0045860, GO:0045722, GO:0043066, GO:0042593, GO:0035774, GO:0033138, GO:0032092, GO:0014823, GO:0010800, GO:0010737, GO:0007631, GO:0007189, GO:0007188, GO:0007186, negative regulation of execution phase of apoptosis, positive regulation of calcium ion import, cellular response to glucagon stimulus, positive regulation of ERK1 and ERK2 cascade, positive regulation of histone H3-K4 methylation, regulation of insulin secretion, regulation of insulin secretion, positive regulation of protein kinase activity, positive regulation of gluconeogenesis, negative regulation of apoptotic process, glucose homeostasis, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of peptidyl-serine phosphorylation, positive regulation of protein binding, response to activity, positive regulation of peptidyl-threonine phosphorylation, protein kinase A signaling, feeding behavior, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000115266 chr19 1446302 1473244 + APC2 protein_coding This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]. 10297 GO:0048471, GO:0045171, GO:0031941, GO:0031258, GO:0030877, GO:0030496, GO:0016342, GO:0016342, GO:0015630, GO:0005884, GO:0005881, GO:0005881, GO:0005829, GO:0005794, GO:0005737, perinuclear region of cytoplasm, intercellular bridge, filamentous actin, lamellipodium membrane, beta-catenin destruction complex, midbody, catenin complex, catenin complex, microtubule cytoskeleton, actin filament, cytoplasmic microtubule, cytoplasmic microtubule, cytosol, Golgi apparatus, cytoplasm, GO:0045295, GO:0008017, GO:0008013, GO:0008013, GO:0005515, gamma-catenin binding, microtubule binding, beta-catenin binding, beta-catenin binding, protein binding, GO:0090630, GO:0090090, GO:0090090, GO:0090090, GO:0045732, GO:0045595, GO:0016477, GO:0016055, GO:0007399, GO:0007389, GO:0007026, GO:0001708, GO:0000226, activation of GTPase activity, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, positive regulation of protein catabolic process, regulation of cell differentiation, cell migration, Wnt signaling pathway, nervous system development, pattern specification process, negative regulation of microtubule depolymerization, cell fate specification, microtubule cytoskeleton organization, 95 115 82 62 93 68 37 76 74 ENSG00000115267 chr2 162267079 162318703 - IFIH1 protein_coding IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]. 64135 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0043021, GO:0042802, GO:0008270, GO:0008270, GO:0005524, GO:0005515, GO:0003727, GO:0003727, GO:0003725, GO:0003725, GO:0003725, GO:0003724, GO:0003677, ribonucleoprotein complex binding, identical protein binding, zinc ion binding, zinc ion binding, ATP binding, protein binding, single-stranded RNA binding, single-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, RNA helicase activity, DNA binding, GO:0071360, GO:0060760, GO:0051607, GO:0045087, GO:0045087, GO:0039530, GO:0039528, GO:0034344, GO:0032760, GO:0032755, GO:0032728, GO:0032728, GO:0032728, GO:0032728, GO:0032727, GO:0032727, GO:0032480, GO:0016925, GO:0016579, GO:0016032, GO:0009615, GO:0009615, GO:0009597, cellular response to exogenous dsRNA, positive regulation of response to cytokine stimulus, defense response to virus, innate immune response, innate immune response, MDA-5 signaling pathway, cytoplasmic pattern recognition receptor signaling pathway in response to virus, regulation of type III interferon production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of interferon-alpha production, negative regulation of type I interferon production, protein sumoylation, protein deubiquitination, viral process, response to virus, response to virus, detection of virus, 988 815 2775 682 643 1262 893 537 1094 ENSG00000115268 chr19 1438358 1440494 + RPS15 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 6209 GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005925, GO:0005829, GO:0005654, GO:0005654, GO:0005634, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, focal adhesion, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003735, GO:0003723, GO:0003677, protein binding, structural constituent of ribosome, RNA binding, DNA binding, GO:0042274, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0001649, GO:0000184, GO:0000056, GO:0000028, ribosomal small subunit biogenesis, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, osteoblast differentiation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal small subunit export from nucleus, ribosomal small subunit assembly, 569 409 746 1178 613 1393 788 610 940 ENSG00000115271 chr2 162318840 162371595 + GCA protein_coding This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]. 25801 GO:0070062, GO:0035578, GO:0005886, GO:0005829, GO:0005737, GO:0005576, extracellular exosome, azurophil granule lumen, plasma membrane, cytosol, cytoplasm, extracellular region, GO:0046982, GO:0042803, GO:0005515, GO:0005509, protein heterodimerization activity, protein homodimerization activity, protein binding, calcium ion binding, GO:0061025, GO:0043312, membrane fusion, neutrophil degranulation, 8410 5424 9687 3599 5829 5949 4624 5149 5743 ENSG00000115274 chr2 74455023 74457960 + INO80B protein_coding This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]. 83444 GO:0031011, GO:0031011, GO:0005730, GO:0005654, GO:0005654, Ino80 complex, Ino80 complex, nucleolus, nucleoplasm, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0043044, GO:0016579, GO:0006310, GO:0006281, ATP-dependent chromatin remodeling, protein deubiquitination, DNA recombination, DNA repair, 4 0 1 7 6 0 7 3 0 ENSG00000115275 chr2 74461057 74465410 - MOGS protein_coding This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 7841 GO:0070062, GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0005783, extracellular exosome, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0015926, GO:0004573, GO:0004573, glucosidase activity, mannosyl-oligosaccharide glucosidase activity, mannosyl-oligosaccharide glucosidase activity, GO:0009311, GO:0006487, GO:0006457, oligosaccharide metabolic process, protein N-linked glycosylation, protein folding, 138 194 223 155 149 184 133 148 138 ENSG00000115282 chr2 74483073 74494886 + TTC31 protein_coding 64427 74 88 101 103 96 104 102 50 69 ENSG00000115286 chr19 1383527 1395589 + NDUFS7 protein_coding This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]. 374291 GO:0097060, GO:0043025, GO:0043005, GO:0005759, GO:0005747, GO:0005747, GO:0005747, GO:0005747, synaptic membrane, neuronal cell body, neuron projection, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, GO:0051539, GO:0048038, GO:0046872, GO:0016655, GO:0008137, GO:0008137, GO:0005515, GO:0003954, GO:0002020, 4 iron, 4 sulfur cluster binding, quinone binding, metal ion binding, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, protein binding, NADH dehydrogenase activity, protease binding, GO:0032981, GO:0032981, GO:0032981, GO:0015990, GO:0009060, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, electron transport coupled proton transport, aerobic respiration, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 66 103 132 109 93 119 91 85 83 ENSG00000115289 chr2 74505043 74508580 - PCGF1 protein_coding PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]. 84759 GO:0035102, GO:0031519, GO:0005654, GO:0005634, PRC1 complex, PcG protein complex, nucleoplasm, nucleus, GO:1990841, GO:0046872, GO:0008022, GO:0005515, promoter-specific chromatin binding, metal ion binding, protein C-terminus binding, protein binding, GO:0036353, GO:0036353, GO:0035518, GO:0006355, GO:0006342, GO:0000122, histone H2A-K119 monoubiquitination, histone H2A-K119 monoubiquitination, histone H2A monoubiquitination, regulation of transcription, DNA-templated, chromatin silencing, negative regulation of transcription by RNA polymerase II, 21 25 21 44 52 34 27 26 26 ENSG00000115290 chr2 164492812 164621848 - GRB14 protein_coding The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 2888 GO:0043231, GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, intracellular membrane-bounded organelle, endosome membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0030971, GO:0030674, GO:0005515, receptor tyrosine kinase binding, protein-macromolecule adaptor activity, protein binding, GO:0050900, GO:0046627, GO:0046627, GO:0008286, GO:0007165, leukocyte migration, negative regulation of insulin receptor signaling pathway, negative regulation of insulin receptor signaling pathway, insulin receptor signaling pathway, signal transduction, 0 0 0 3 0 0 0 0 0 ENSG00000115295 chr2 29097705 29189643 + CLIP4 protein_coding 79745 GO:0043231, GO:0035371, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, microtubule plus-end, cytoplasm, nucleus, GO:0051010, GO:0005515, microtubule plus-end binding, protein binding, GO:0031122, cytoplasmic microtubule organization, 57 53 80 108 49 115 100 37 91 ENSG00000115297 chr2 74513463 74517147 + TLX2 protein_coding This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]. 3196 GO:0005634, GO:0005575, GO:0000785, nucleus, cellular_component, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050774, GO:0048513, GO:0048484, GO:0045944, GO:0006357, GO:0001707, negative regulation of dendrite morphogenesis, animal organ development, enteric nervous system development, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, mesoderm formation, 0 0 0 0 0 3 0 0 0 ENSG00000115306 chr2 54456285 54671445 + SPTBN1 protein_coding Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6711 GO:0070062, GO:0032437, GO:0031430, GO:0030673, GO:0014731, GO:0014069, GO:0008091, GO:0005829, GO:0005737, GO:0005730, extracellular exosome, cuticular plate, M band, axolemma, spectrin-associated cytoskeleton, postsynaptic density, spectrin, cytosol, cytoplasm, nucleolus, GO:0051020, GO:0045296, GO:0030506, GO:0030506, GO:0005543, GO:0005516, GO:0005515, GO:0005200, GO:0003779, GO:0003723, GTPase binding, cadherin binding, ankyrin binding, ankyrin binding, phospholipid binding, calmodulin binding, protein binding, structural constituent of cytoskeleton, actin binding, RNA binding, GO:1903078, GO:1903076, GO:0072659, GO:0071709, GO:0060390, GO:0051693, GO:0043001, GO:0032743, GO:0007411, GO:0007182, GO:0007010, GO:0007009, GO:0006888, GO:0000281, GO:0000165, positive regulation of protein localization to plasma membrane, regulation of protein localization to plasma membrane, protein localization to plasma membrane, membrane assembly, regulation of SMAD protein signal transduction, actin filament capping, Golgi to plasma membrane protein transport, positive regulation of interleukin-2 production, axon guidance, common-partner SMAD protein phosphorylation, cytoskeleton organization, plasma membrane organization, endoplasmic reticulum to Golgi vesicle-mediated transport, mitotic cytokinesis, MAPK cascade, 446 523 531 584 352 474 573 317 315 ENSG00000115307 chr2 74526645 74529939 - AUP1 protein_coding The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 550 GO:0070062, GO:0031410, GO:0030176, GO:0030176, GO:0016020, GO:0016020, GO:0005811, GO:0005783, GO:0005776, GO:0000839, extracellular exosome, cytoplasmic vesicle, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, membrane, membrane, lipid droplet, endoplasmic reticulum, autophagosome, Hrd1p ubiquitin ligase ERAD-L complex, GO:0097027, GO:0043130, GO:0031625, GO:0031624, GO:0005515, ubiquitin-protein transferase activator activity, ubiquitin binding, ubiquitin protein ligase binding, ubiquitin conjugating enzyme binding, protein binding, GO:1990044, GO:1990044, GO:0140042, GO:0071712, GO:0061724, GO:0050790, GO:0034389, GO:0030970, GO:0030433, GO:0030433, GO:0016032, GO:0009615, protein localization to lipid droplet, protein localization to lipid droplet, lipid droplet formation, ER-associated misfolded protein catabolic process, lipophagy, regulation of catalytic activity, lipid droplet organization, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, viral process, response to virus, 456 572 711 543 749 804 526 610 531 ENSG00000115310 chr2 54972187 55112621 - RTN4 protein_coding This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 57142 GO:0098826, GO:0071782, GO:0043025, GO:0042995, GO:0030176, GO:0014069, GO:0005886, GO:0005789, GO:0005783, GO:0005783, GO:0005783, GO:0005635, endoplasmic reticulum tubular network membrane, endoplasmic reticulum tubular network, neuronal cell body, cell projection, integral component of endoplasmic reticulum membrane, postsynaptic density, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, nuclear envelope, GO:0045296, GO:0031625, GO:0005515, GO:0003723, cadherin binding, ubiquitin protein ligase binding, protein binding, RNA binding, GO:2000172, GO:1990809, GO:1905580, GO:1905552, GO:0090156, GO:0071787, GO:0071786, GO:0061462, GO:0060317, GO:0051897, GO:0051292, GO:0050821, GO:0050771, GO:0042981, GO:0034165, GO:0033601, GO:0030517, GO:0030308, GO:0021801, GO:0010634, GO:0007413, GO:0006915, GO:0001825, regulation of branching morphogenesis of a nerve, endoplasmic reticulum tubular network membrane organization, positive regulation of ERBB3 signaling pathway, positive regulation of protein localization to endoplasmic reticulum, cellular sphingolipid homeostasis, endoplasmic reticulum tubular network formation, endoplasmic reticulum tubular network organization, protein localization to lysosome, cardiac epithelial to mesenchymal transition, positive regulation of protein kinase B signaling, nuclear pore complex assembly, protein stabilization, negative regulation of axonogenesis, regulation of apoptotic process, positive regulation of toll-like receptor 9 signaling pathway, positive regulation of mammary gland epithelial cell proliferation, negative regulation of axon extension, negative regulation of cell growth, cerebral cortex radial glia guided migration, positive regulation of epithelial cell migration, axonal fasciculation, apoptotic process, blastocyst formation, 2677 2730 3724 1451 2238 2402 1765 1841 2109 ENSG00000115317 chr2 74529377 74533348 + HTRA2 protein_coding This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. 27429 GO:1905370, GO:0035631, GO:0031966, GO:0016020, GO:0009898, GO:0005856, GO:0005829, GO:0005789, GO:0005783, GO:0005758, GO:0005739, GO:0005739, GO:0005739, GO:0005634, GO:0000785, serine-type endopeptidase complex, CD40 receptor complex, mitochondrial membrane, membrane, cytoplasmic side of plasma membrane, cytoskeleton, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial intermembrane space, mitochondrion, mitochondrion, mitochondrion, nucleus, chromatin, GO:0051082, GO:0042802, GO:0008236, GO:0008236, GO:0008233, GO:0008233, GO:0005515, GO:0004252, GO:0004252, unfolded protein binding, identical protein binding, serine-type peptidase activity, serine-type peptidase activity, peptidase activity, peptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:2001269, GO:2001241, GO:1904924, GO:1903955, GO:1903146, GO:1902176, GO:1901215, GO:0097194, GO:0071363, GO:0071300, GO:0048666, GO:0045786, GO:0044257, GO:0043280, GO:0043280, GO:0043065, GO:0043065, GO:0040014, GO:0035458, GO:0034605, GO:0034599, GO:0034599, GO:0030900, GO:0019742, GO:0016540, GO:0012501, GO:0010822, GO:0009635, GO:0008630, GO:0007628, GO:0007568, GO:0007005, GO:0006672, GO:0006508, GO:0006508, GO:0006508, positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of mitophagy in response to mitochondrial depolarization, positive regulation of protein targeting to mitochondrion, regulation of autophagy of mitochondrion, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, negative regulation of neuron death, execution phase of apoptosis, cellular response to growth factor stimulus, cellular response to retinoic acid, neuron development, negative regulation of cell cycle, cellular protein catabolic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of multicellular organism growth, cellular response to interferon-beta, cellular response to heat, cellular response to oxidative stress, cellular response to oxidative stress, forebrain development, pentacyclic triterpenoid metabolic process, protein autoprocessing, programmed cell death, positive regulation of mitochondrion organization, response to herbicide, intrinsic apoptotic signaling pathway in response to DNA damage, adult walking behavior, aging, mitochondrion organization, ceramide metabolic process, proteolysis, proteolysis, proteolysis, 176 226 324 208 319 323 222 262 267 ENSG00000115318 chr2 74532414 74555690 - LOXL3 protein_coding This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]. 84695 GO:0016020, GO:0005737, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005576, membrane, cytoplasm, nucleus, nucleus, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0005507, GO:0005044, GO:0004720, GO:0004720, GO:0004720, GO:0001968, protein binding, copper ion binding, scavenger receptor activity, protein-lysine 6-oxidase activity, protein-lysine 6-oxidase activity, protein-lysine 6-oxidase activity, fibronectin binding, GO:2001046, GO:2000329, GO:1905590, GO:0061053, GO:0060021, GO:0045892, GO:0030324, GO:0030199, GO:0021510, GO:0018057, GO:0018057, GO:0006954, GO:0006954, GO:0006897, GO:0001837, positive regulation of integrin-mediated signaling pathway, negative regulation of T-helper 17 cell lineage commitment, fibronectin fibril organization, somite development, roof of mouth development, negative regulation of transcription, DNA-templated, lung development, collagen fibril organization, spinal cord development, peptidyl-lysine oxidation, peptidyl-lysine oxidation, inflammatory response, inflammatory response, endocytosis, epithelial to mesenchymal transition, 147 127 178 120 183 153 90 156 130 ENSG00000115325 chr2 74549026 74557554 + DOK1 protein_coding The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 1796 GO:0048471, GO:0005829, GO:0005829, GO:0005634, perinuclear region of cytoplasm, cytosol, cytosol, nucleus, GO:0005515, protein binding, GO:0045742, GO:0038145, GO:0007411, GO:0007265, GO:0007169, GO:0007166, GO:0007165, positive regulation of epidermal growth factor receptor signaling pathway, macrophage colony-stimulating factor signaling pathway, axon guidance, Ras protein signal transduction, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, signal transduction, 407 292 454 160 325 208 187 256 193 ENSG00000115339 chr2 165747591 165794682 - GALNT3 protein_coding This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]. 2591 GO:0070062, GO:0048471, GO:0032580, GO:0016021, GO:0016020, GO:0005794, GO:0005794, GO:0005794, GO:0000139, extracellular exosome, perinuclear region of cytoplasm, Golgi cisterna membrane, integral component of membrane, membrane, Golgi apparatus, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0030246, GO:0030145, GO:0005509, GO:0004653, GO:0004653, carbohydrate binding, manganese ion binding, calcium ion binding, polypeptide N-acetylgalactosaminyltransferase activity, polypeptide N-acetylgalactosaminyltransferase activity, GO:0018243, GO:0018242, GO:0016266, GO:0008543, GO:0005975, protein O-linked glycosylation via threonine, protein O-linked glycosylation via serine, O-glycan processing, fibroblast growth factor receptor signaling pathway, carbohydrate metabolic process, 533 347 616 154 173 247 198 146 208 ENSG00000115350 chr2 74958492 74970128 + POLE4 protein_coding POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]. 56655 GO:0008622, GO:0008622, GO:0005671, GO:0005654, GO:0005634, epsilon DNA polymerase complex, epsilon DNA polymerase complex, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, nucleus, GO:0046982, GO:0005515, GO:0003887, GO:0003677, protein heterodimerization activity, protein binding, DNA-directed DNA polymerase activity, DNA binding, GO:0071897, GO:0032201, GO:0006270, GO:0000082, DNA biosynthetic process, telomere maintenance via semi-conservative replication, DNA replication initiation, G1/S transition of mitotic cell cycle, 23 14 14 25 43 53 17 14 31 ENSG00000115353 chr2 75046463 75199700 - TACR1 protein_coding This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008]. 6869 GO:0097225, GO:0097225, GO:0061827, GO:0044297, GO:0036126, GO:0030425, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, sperm midpiece, sperm midpiece, sperm head, cell body, sperm flagellum, dendrite, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0016496, GO:0016496, GO:0005515, GO:0004995, substance P receptor activity, substance P receptor activity, protein binding, tachykinin receptor activity, GO:1902093, GO:1902093, GO:0070474, GO:0060083, GO:0051602, GO:0051496, GO:0050679, GO:0050671, GO:0048660, GO:0048266, GO:0046887, GO:0046878, GO:0045907, GO:0045778, GO:0045777, GO:0045760, GO:0045471, GO:0043278, GO:0043117, GO:0042755, GO:0042713, GO:0035815, GO:0035106, GO:0035094, GO:0032570, GO:0032355, GO:0032230, GO:0032224, GO:0019233, GO:0014910, GO:0010996, GO:0010634, GO:0010193, GO:0009582, GO:0009408, GO:0008306, GO:0007616, GO:0007217, GO:0007217, GO:0007204, GO:0007200, GO:0007186, GO:0006954, GO:0003051, GO:0002687, GO:0002526, GO:0002118, positive regulation of flagellated sperm motility, positive regulation of flagellated sperm motility, positive regulation of uterine smooth muscle contraction, smooth muscle contraction involved in micturition, response to electrical stimulus, positive regulation of stress fiber assembly, positive regulation of epithelial cell proliferation, positive regulation of lymphocyte proliferation, regulation of smooth muscle cell proliferation, behavioral response to pain, positive regulation of hormone secretion, positive regulation of saliva secretion, positive regulation of vasoconstriction, positive regulation of ossification, positive regulation of blood pressure, positive regulation of action potential, response to ethanol, response to morphine, positive regulation of vascular permeability, eating behavior, sperm ejaculation, positive regulation of renal sodium excretion, operant conditioning, response to nicotine, response to progesterone, response to estradiol, positive regulation of synaptic transmission, GABAergic, positive regulation of synaptic transmission, cholinergic, sensory perception of pain, regulation of smooth muscle cell migration, response to auditory stimulus, positive regulation of epithelial cell migration, response to ozone, detection of abiotic stimulus, response to heat, associative learning, long-term memory, tachykinin receptor signaling pathway, tachykinin receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, angiotensin-mediated drinking behavior, positive regulation of leukocyte migration, acute inflammatory response, aggressive behavior, 0 0 0 1 0 0 0 0 0 ENSG00000115355 chr2 55287842 55419895 - CCDC88A protein_coding This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 55704 GO:0036064, GO:0031410, GO:0030142, GO:0030027, GO:0016020, GO:0005886, GO:0005829, GO:0005814, GO:0005813, GO:0005794, GO:0005783, GO:0005737, ciliary basal body, cytoplasmic vesicle, COPI-coated Golgi to ER transport vesicle, lamellipodium, membrane, plasma membrane, cytosol, centriole, centrosome, Golgi apparatus, endoplasmic reticulum, cytoplasm, GO:0051959, GO:0043422, GO:0043184, GO:0042803, GO:0042169, GO:0035091, GO:0031682, GO:0008017, GO:0008017, GO:0005515, GO:0005158, GO:0005154, GO:0005092, GO:0005085, GO:0005080, GO:0003779, GO:0001965, dynein light intermediate chain binding, protein kinase B binding, vascular endothelial growth factor receptor 2 binding, protein homodimerization activity, SH2 domain binding, phosphatidylinositol binding, G-protein gamma-subunit binding, microtubule binding, microtubule binding, protein binding, insulin receptor binding, epidermal growth factor receptor binding, GDP-dissociation inhibitor activity, guanyl-nucleotide exchange factor activity, protein kinase C binding, actin binding, G-protein alpha-subunit binding, GO:1903566, GO:0072660, GO:0061024, GO:0051496, GO:0045742, GO:0045724, GO:0042127, GO:0032956, GO:0032148, GO:0032147, GO:0031929, GO:0031122, GO:0030705, GO:0030032, GO:0016477, GO:0010975, GO:0007264, GO:0006275, GO:0006260, GO:0001932, positive regulation of protein localization to cilium, maintenance of protein location in plasma membrane, membrane organization, positive regulation of stress fiber assembly, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of cilium assembly, regulation of cell population proliferation, regulation of actin cytoskeleton organization, activation of protein kinase B activity, activation of protein kinase activity, TOR signaling, cytoplasmic microtubule organization, cytoskeleton-dependent intracellular transport, lamellipodium assembly, cell migration, regulation of neuron projection development, small GTPase mediated signal transduction, regulation of DNA replication, DNA replication, regulation of protein phosphorylation, 49 43 74 94 67 119 74 53 82 ENSG00000115361 chr2 210187939 210225491 - ACADL protein_coding The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]. 33 GO:0031966, GO:0005759, GO:0005739, mitochondrial membrane, mitochondrial matrix, mitochondrion, GO:0050660, GO:0042802, GO:0016401, GO:0016401, GO:0005515, GO:0004466, GO:0004466, GO:0003995, GO:0000062, flavin adenine dinucleotide binding, identical protein binding, palmitoyl-CoA oxidase activity, palmitoyl-CoA oxidase activity, protein binding, long-chain-acyl-CoA dehydrogenase activity, long-chain-acyl-CoA dehydrogenase activity, acyl-CoA dehydrogenase activity, fatty-acyl-CoA binding, GO:0120162, GO:0090181, GO:0055114, GO:0046322, GO:0045717, GO:0044242, GO:0042758, GO:0042413, GO:0033539, GO:0033539, GO:0019254, GO:0019254, GO:0006635, GO:0001659, positive regulation of cold-induced thermogenesis, regulation of cholesterol metabolic process, oxidation-reduction process, negative regulation of fatty acid oxidation, negative regulation of fatty acid biosynthetic process, cellular lipid catabolic process, long-chain fatty acid catabolic process, carnitine catabolic process, fatty acid beta-oxidation using acyl-CoA dehydrogenase, fatty acid beta-oxidation using acyl-CoA dehydrogenase, carnitine metabolic process, CoA-linked, carnitine metabolic process, CoA-linked, fatty acid beta-oxidation, temperature homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000115363 chr2 75469302 75569722 - EVA1A protein_coding 84141 GO:0043231, GO:0016021, GO:0005886, GO:0005789, GO:0005788, GO:0005765, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, lysosomal membrane, GO:0005515, protein binding, GO:0044267, GO:0043687, GO:0006915, GO:0006914, cellular protein metabolic process, post-translational protein modification, apoptotic process, autophagy, 0 0 0 0 0 0 0 0 0 ENSG00000115364 chr2 75646783 75690851 + MRPL19 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 9801 GO:0031965, GO:0005762, GO:0005762, GO:0005743, GO:0005739, GO:0005634, nuclear membrane, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleus, GO:0005515, GO:0003735, protein binding, structural constituent of ribosome, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 11 12 24 48 17 61 32 19 20 ENSG00000115365 chr2 210431249 210477652 - LANCL1 protein_coding This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]. 10314 GO:0005887, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0050750, GO:0043295, GO:0017124, GO:0008270, GO:0005515, GO:0004930, GO:0004364, low-density lipoprotein particle receptor binding, glutathione binding, SH3 domain binding, zinc ion binding, protein binding, G protein-coupled receptor activity, glutathione transferase activity, GO:1903203, GO:0043523, GO:0007186, GO:0005975, regulation of oxidative stress-induced neuron death, regulation of neuron apoptotic process, G protein-coupled receptor signaling pathway, carbohydrate metabolic process, 36 26 56 96 50 92 84 36 68 ENSG00000115368 chr2 189441433 189475565 + WDR75 protein_coding 84128 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0003723, RNA binding, GO:2000234, GO:0045943, GO:0006364, positive regulation of rRNA processing, positive regulation of transcription by RNA polymerase I, rRNA processing, 45 57 121 145 43 159 94 25 130 ENSG00000115380 chr2 55865967 55924139 - EFEMP1 protein_coding This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]. 2202 GO:0070062, GO:0062023, GO:0062023, GO:0031012, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular space, extracellular space, extracellular region, extracellular region, GO:0008083, GO:0005515, GO:0005509, GO:0005201, GO:0005154, GO:0005006, growth factor activity, protein binding, calcium ion binding, extracellular matrix structural constituent, epidermal growth factor receptor binding, epidermal growth factor-activated receptor activity, GO:0048050, GO:0048048, GO:0043010, GO:0032331, GO:0018108, GO:0007601, GO:0007173, GO:0006355, post-embryonic eye morphogenesis, embryonic eye morphogenesis, camera-type eye development, negative regulation of chondrocyte differentiation, peptidyl-tyrosine phosphorylation, visual perception, epidermal growth factor receptor signaling pathway, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000115386 chr2 79120362 79123419 + REG1A protein_coding This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]. 5967 GO:0070062, GO:0048471, GO:0045178, GO:0042588, GO:0032991, GO:0032809, GO:0032590, GO:0030426, GO:0005829, GO:0005615, extracellular exosome, perinuclear region of cytoplasm, basal part of cell, zymogen granule, protein-containing complex, neuronal cell body membrane, dendrite membrane, growth cone, cytosol, extracellular space, GO:0070492, GO:0042834, GO:0042802, GO:0038023, GO:0019903, GO:0008083, oligosaccharide binding, peptidoglycan binding, identical protein binding, signaling receptor activity, protein phosphatase binding, growth factor activity, GO:1990878, GO:1990869, GO:1990864, GO:1990798, GO:1990785, GO:1904699, GO:1904692, GO:1903861, GO:1903492, GO:0097421, GO:0061844, GO:0055074, GO:0044278, GO:0043434, GO:0042060, GO:0031667, GO:0010628, GO:0008285, GO:0008284, GO:0007494, GO:0007165, GO:0001666, cellular response to gastrin, cellular response to chemokine, response to growth hormone-releasing hormone, pancreas regeneration, response to water-immersion restraint stress, positive regulation of acinar cell proliferation, positive regulation of type B pancreatic cell proliferation, positive regulation of dendrite extension, response to acetylsalicylate, liver regeneration, antimicrobial humoral immune response mediated by antimicrobial peptide, calcium ion homeostasis, cell wall disruption in other organism, response to peptide hormone, wound healing, response to nutrient levels, positive regulation of gene expression, negative regulation of cell population proliferation, positive regulation of cell population proliferation, midgut development, signal transduction, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000115392 chr2 58159243 58241372 - FANCL protein_coding This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]. 55120 GO:0043240, GO:0043231, GO:0016604, GO:0005737, GO:0005654, GO:0005635, GO:0005634, Fanconi anaemia nuclear complex, intracellular membrane-bounded organelle, nuclear body, cytoplasm, nucleoplasm, nuclear envelope, nucleus, GO:0061630, GO:0061630, GO:0046872, GO:0031625, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ubiquitin protein ligase binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0042127, GO:0036297, GO:0007276, GO:0006974, GO:0006513, GO:0006513, GO:0006281, GO:0006281, regulation of cell population proliferation, interstrand cross-link repair, gamete generation, cellular response to DNA damage stimulus, protein monoubiquitination, protein monoubiquitination, DNA repair, DNA repair, 33 33 44 45 30 53 33 20 28 ENSG00000115414 chr2 215360440 215436172 - FN1 protein_coding This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]. 2335 GO:0072562, GO:0070062, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0031093, GO:0031012, GO:0016324, GO:0005793, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005604, GO:0005577, GO:0005576, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet alpha granule lumen, extracellular matrix, apical plasma membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, basement membrane, fibrinogen complex, extracellular region, extracellular region, extracellular region, GO:0097718, GO:0051087, GO:0043394, GO:0043394, GO:0042802, GO:0019899, GO:0016504, GO:0008201, GO:0008022, GO:0005518, GO:0005515, GO:0005201, GO:0005201, GO:0005201, GO:0005178, GO:0005178, GO:0005178, GO:0005178, GO:0005102, GO:0005102, GO:0002020, disordered domain specific binding, chaperone binding, proteoglycan binding, proteoglycan binding, identical protein binding, enzyme binding, peptidase activator activity, heparin binding, protein C-terminus binding, collagen binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, extracellular matrix structural constituent, integrin binding, integrin binding, integrin binding, integrin binding, signaling receptor binding, signaling receptor binding, protease binding, GO:1904237, GO:1901166, GO:0072378, GO:0071635, GO:0070527, GO:0070372, GO:0051702, GO:0050900, GO:0048146, GO:0048016, GO:0045773, GO:0044267, GO:0043687, GO:0035987, GO:0034446, GO:0034446, GO:0033622, GO:0030198, GO:0019221, GO:0018149, GO:0010952, GO:0010628, GO:0009611, GO:0008360, GO:0008284, GO:0007507, GO:0007399, GO:0007229, GO:0007161, GO:0007160, GO:0007155, GO:0007044, GO:0006953, GO:0002576, GO:0001932, GO:0001525, positive regulation of substrate-dependent cell migration, cell attachment to substrate, neural crest cell migration involved in autonomic nervous system development, blood coagulation, fibrin clot formation, negative regulation of transforming growth factor beta production, platelet aggregation, regulation of ERK1 and ERK2 cascade, biological process involved in interaction with symbiont, leukocyte migration, positive regulation of fibroblast proliferation, inositol phosphate-mediated signaling, positive regulation of axon extension, cellular protein metabolic process, post-translational protein modification, endodermal cell differentiation, substrate adhesion-dependent cell spreading, substrate adhesion-dependent cell spreading, integrin activation, extracellular matrix organization, cytokine-mediated signaling pathway, peptide cross-linking, positive regulation of peptidase activity, positive regulation of gene expression, response to wounding, regulation of cell shape, positive regulation of cell population proliferation, heart development, nervous system development, integrin-mediated signaling pathway, calcium-independent cell-matrix adhesion, cell-matrix adhesion, cell adhesion, cell-substrate junction assembly, acute-phase response, platelet degranulation, regulation of protein phosphorylation, angiogenesis, 1 0 3 5 0 8 2 4 5 ENSG00000115415 chr2 190964358 191020960 - STAT1 protein_coding The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]. 6772 GO:0048471, GO:0032991, GO:0030425, GO:0030424, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, perinuclear region of cytoplasm, protein-containing complex, dendrite, axon, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromatin, GO:1990841, GO:0070491, GO:0045296, GO:0044389, GO:0042803, GO:0042802, GO:0042393, GO:0035257, GO:0035035, GO:0019899, GO:0005515, GO:0005164, GO:0003700, GO:0003690, GO:0000981, GO:0000981, GO:0000981, GO:0000979, GO:0000978, GO:0000978, promoter-specific chromatin binding, repressing transcription factor binding, cadherin binding, ubiquitin-like protein ligase binding, protein homodimerization activity, identical protein binding, histone binding, nuclear hormone receptor binding, histone acetyltransferase binding, enzyme binding, protein binding, tumor necrosis factor receptor binding, DNA-binding transcription factor activity, double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072308, GO:0072162, GO:0072136, GO:0071346, GO:0070757, GO:0070106, GO:0070102, GO:0061326, GO:0060337, GO:0060337, GO:0060337, GO:0060337, GO:0060334, GO:0060333, GO:0060333, GO:0060333, GO:0060333, GO:0051607, GO:0051591, GO:0048661, GO:0046725, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045648, GO:0043542, GO:0043434, GO:0043434, GO:0043124, GO:0042981, GO:0042127, GO:0038114, GO:0038113, GO:0035458, GO:0035456, GO:0034097, GO:0033209, GO:0032727, GO:0019221, GO:0019221, GO:0016525, GO:0016032, GO:0010742, GO:0008015, GO:0007259, GO:0007259, GO:0007221, GO:0006952, GO:0003340, GO:0002230, GO:0002230, GO:0002053, GO:0001937, GO:0000122, negative regulation of metanephric nephron tubule epithelial cell differentiation, metanephric mesenchymal cell differentiation, metanephric mesenchymal cell proliferation involved in metanephros development, cellular response to interferon-gamma, interleukin-35-mediated signaling pathway, interleukin-27-mediated signaling pathway, interleukin-6-mediated signaling pathway, renal tubule development, type I interferon signaling pathway, type I interferon signaling pathway, type I interferon signaling pathway, type I interferon signaling pathway, regulation of interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, response to cAMP, positive regulation of smooth muscle cell proliferation, negative regulation by virus of viral protein levels in host cell, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of erythrocyte differentiation, endothelial cell migration, response to peptide hormone, response to peptide hormone, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, regulation of cell population proliferation, interleukin-21-mediated signaling pathway, interleukin-9-mediated signaling pathway, cellular response to interferon-beta, response to interferon-beta, response to cytokine, tumor necrosis factor-mediated signaling pathway, positive regulation of interferon-alpha production, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, negative regulation of angiogenesis, viral process, macrophage derived foam cell differentiation, blood circulation, receptor signaling pathway via JAK-STAT, receptor signaling pathway via JAK-STAT, positive regulation of transcription of Notch receptor target, defense response, negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis, positive regulation of defense response to virus by host, positive regulation of defense response to virus by host, positive regulation of mesenchymal cell proliferation, negative regulation of endothelial cell proliferation, negative regulation of transcription by RNA polymerase II, 4721 3931 5896 2604 2812 4042 3563 2851 3635 ENSG00000115419 chr2 190880827 190965552 + GLS protein_coding This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 2744 GO:0045202, GO:0005829, GO:0005759, GO:0005739, GO:0005739, synapse, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0005515, GO:0004359, GO:0004359, GO:0004359, protein binding, glutaminase activity, glutaminase activity, glutaminase activity, GO:0090461, GO:0051289, GO:0014047, GO:0008652, GO:0007268, GO:0006543, GO:0006543, GO:0006543, GO:0006537, GO:0006537, GO:0006537, GO:0002087, GO:0001967, glutamate homeostasis, protein homotetramerization, glutamate secretion, cellular amino acid biosynthetic process, chemical synaptic transmission, glutamine catabolic process, glutamine catabolic process, glutamine catabolic process, glutamate biosynthetic process, glutamate biosynthetic process, glutamate biosynthetic process, regulation of respiratory gaseous exchange by nervous system process, suckling behavior, 1205 1192 1754 1547 1362 1917 1715 1132 1469 ENSG00000115421 chr2 60756230 60802085 + PAPOLG protein_coding This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]. 64895 GO:0016604, GO:0016020, GO:0005829, GO:0005654, GO:0005634, GO:0005634, nuclear body, membrane, cytosol, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005524, GO:0004652, GO:0004652, GO:0003723, metal ion binding, ATP binding, polynucleotide adenylyltransferase activity, polynucleotide adenylyltransferase activity, RNA binding, GO:0043631, GO:0006378, RNA polyadenylation, mRNA polyadenylation, 298 311 431 178 297 282 208 252 232 ENSG00000115423 chr2 84516455 84819589 + DNAH6 protein_coding This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]. 1768 GO:0030286, GO:0005929, GO:0005874, GO:0005737, dynein complex, cilium, microtubule, cytoplasm, GO:0051959, GO:0045505, GO:0008569, GO:0005524, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, GO:0007018, microtubule-based movement, 2 0 7 9 0 10 6 5 16 ENSG00000115425 chr2 215996329 216082955 - PECR protein_coding 55825 GO:0005829, GO:0005778, GO:0005778, GO:0005777, GO:0005777, GO:0005739, cytosol, peroxisomal membrane, peroxisomal membrane, peroxisome, peroxisome, mitochondrion, GO:0019166, GO:0019166, GO:0008670, GO:0005102, trans-2-enoyl-CoA reductase (NADPH) activity, trans-2-enoyl-CoA reductase (NADPH) activity, 2,4-dienoyl-CoA reductase (NADPH) activity, signaling receptor binding, GO:0055114, GO:0055114, GO:0033306, GO:0033306, GO:0006633, GO:0006625, GO:0001561, oxidation-reduction process, oxidation-reduction process, phytol metabolic process, phytol metabolic process, fatty acid biosynthetic process, protein targeting to peroxisome, fatty acid alpha-oxidation, 42 25 45 22 26 52 26 31 39 ENSG00000115446 chr2 98608579 98618515 + UNC50 protein_coding 25972 GO:0030173, GO:0005637, integral component of Golgi membrane, nuclear inner membrane, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0015031, GO:0006810, protein transport, transport, 174 165 216 82 176 169 123 177 115 ENSG00000115457 chr2 216632828 216664436 + IGFBP2 protein_coding The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted isoforms, have been found for this gene. [provided by RefSeq, Sep 2015]. 3485 GO:0070062, GO:0031410, GO:0016324, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, cytoplasmic vesicle, apical plasma membrane, extracellular space, extracellular space, extracellular region, extracellular region, GO:0031995, GO:0031995, GO:0031994, GO:0031994, GO:0005515, GO:0005102, insulin-like growth factor II binding, insulin-like growth factor II binding, insulin-like growth factor I binding, insulin-like growth factor I binding, protein binding, signaling receptor binding, GO:0090090, GO:0051384, GO:0044267, GO:0043627, GO:0043567, GO:0043567, GO:0043567, GO:0042493, GO:0042104, GO:0040008, GO:0032870, GO:0032526, GO:0032355, GO:0010226, GO:0009612, GO:0007584, GO:0007568, GO:0007565, GO:0007165, negative regulation of canonical Wnt signaling pathway, response to glucocorticoid, cellular protein metabolic process, response to estrogen, regulation of insulin-like growth factor receptor signaling pathway, regulation of insulin-like growth factor receptor signaling pathway, regulation of insulin-like growth factor receptor signaling pathway, response to drug, positive regulation of activated T cell proliferation, regulation of growth, cellular response to hormone stimulus, response to retinoic acid, response to estradiol, response to lithium ion, response to mechanical stimulus, response to nutrient, aging, female pregnancy, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000115459 chr2 85354394 85391752 + ELMOD3 protein_coding This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 84173 GO:0060091, GO:0032420, GO:0005886, GO:0005856, GO:0005737, kinocilium, stereocilium, plasma membrane, cytoskeleton, cytoplasm, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 129 104 140 147 160 178 172 91 118 ENSG00000115461 chr2 216672105 216695525 - IGFBP5 protein_coding 3488 GO:0042567, GO:0016942, GO:0005788, GO:0005615, GO:0005576, GO:0005576, insulin-like growth factor ternary complex, insulin-like growth factor binding protein complex, endoplasmic reticulum lumen, extracellular space, extracellular region, extracellular region, GO:0031995, GO:0031994, GO:0031994, GO:0005515, GO:0001968, insulin-like growth factor II binding, insulin-like growth factor I binding, insulin-like growth factor I binding, protein binding, fibronectin binding, GO:1904754, GO:1904707, GO:1904205, GO:1901862, GO:0071407, GO:0071320, GO:0060416, GO:0060056, GO:0051897, GO:0051146, GO:0048662, GO:0048286, GO:0045926, GO:0045668, GO:0044342, GO:0044267, GO:0043687, GO:0043569, GO:0043568, GO:0043567, GO:0042593, GO:0035556, GO:0031069, GO:0030336, GO:0017148, GO:0014912, GO:0007568, GO:0007565, GO:0007165, GO:0001649, GO:0001558, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of skeletal muscle hypertrophy, negative regulation of muscle tissue development, cellular response to organic cyclic compound, cellular response to cAMP, response to growth hormone, mammary gland involution, positive regulation of protein kinase B signaling, striated muscle cell differentiation, negative regulation of smooth muscle cell proliferation, lung alveolus development, negative regulation of growth, negative regulation of osteoblast differentiation, type B pancreatic cell proliferation, cellular protein metabolic process, post-translational protein modification, negative regulation of insulin-like growth factor receptor signaling pathway, positive regulation of insulin-like growth factor receptor signaling pathway, regulation of insulin-like growth factor receptor signaling pathway, glucose homeostasis, intracellular signal transduction, hair follicle morphogenesis, negative regulation of cell migration, negative regulation of translation, negative regulation of smooth muscle cell migration, aging, female pregnancy, signal transduction, osteoblast differentiation, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000115464 chr2 61187463 61470769 - USP34 protein_coding 9736 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0005515, GO:0004843, GO:0004843, GO:0004197, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:0090263, GO:0071108, GO:0016579, GO:0016579, GO:0016579, GO:0016055, GO:0006511, positive regulation of canonical Wnt signaling pathway, protein K48-linked deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, Wnt signaling pathway, ubiquitin-dependent protein catabolic process, 3182 3274 4027 2080 2350 2625 2247 1730 2166 ENSG00000115468 chr2 232606057 232682781 + EFHD1 protein_coding This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 80303 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0061891, GO:0061891, GO:0005509, calcium ion sensor activity, calcium ion sensor activity, calcium ion binding, GO:1900069, GO:0031175, regulation of cellular hyperosmotic salinity response, neuron projection development, 0 0 0 0 2 0 2 0 0 ENSG00000115474 chr2 232766464 232776568 - KCNJ13 protein_coding This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]. 3769 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005242, GO:0005242, inward rectifier potassium channel activity, inward rectifier potassium channel activity, GO:1990573, GO:0034765, GO:0006813, potassium ion import across plasma membrane, regulation of ion transmembrane transport, potassium ion transport, 9 5 3 2 6 15 0 4 5 ENSG00000115484 chr2 61868089 61888804 - CCT4 protein_coding The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008]. 10575 GO:0070062, GO:0044297, GO:0042995, GO:0042470, GO:0005874, GO:0005832, GO:0005832, GO:0005832, GO:0005829, GO:0005829, GO:0005813, GO:0005654, GO:0002199, extracellular exosome, cell body, cell projection, melanosome, microtubule, chaperonin-containing T-complex, chaperonin-containing T-complex, chaperonin-containing T-complex, cytosol, cytosol, centrosome, nucleoplasm, zona pellucida receptor complex, GO:0051082, GO:0005524, GO:0005515, GO:0003723, unfolded protein binding, ATP binding, protein binding, RNA binding, GO:1904874, GO:1904874, GO:1904871, GO:1904851, GO:1901998, GO:0090666, GO:0051973, GO:0050821, GO:0032212, GO:0007339, GO:0006457, GO:0006457, positive regulation of telomerase RNA localization to Cajal body, positive regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, toxin transport, scaRNA localization to Cajal body, positive regulation of telomerase activity, protein stabilization, positive regulation of telomere maintenance via telomerase, binding of sperm to zona pellucida, protein folding, protein folding, 143 150 314 292 252 341 198 127 173 ENSG00000115486 chr2 85544723 85561547 - GGCX protein_coding This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 2677 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0019842, GO:0008488, GO:0008488, vitamin binding, gamma-glutamyl carboxylase activity, gamma-glutamyl carboxylase activity, GO:0017187, GO:0017187, GO:0007596, GO:0006464, peptidyl-glutamic acid carboxylation, peptidyl-glutamic acid carboxylation, blood coagulation, cellular protein modification process, 191 240 270 510 969 676 445 446 448 ENSG00000115488 chr2 233032672 233035057 + NEU2 protein_coding This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]. 4759 GO:1902494, GO:0043231, GO:0016020, GO:0005829, GO:0005829, GO:0005737, catalytic complex, intracellular membrane-bounded organelle, membrane, cytosol, cytosol, cytoplasm, GO:0052796, GO:0052795, GO:0052794, GO:0005515, GO:0004308, GO:0004308, GO:0004308, exo-alpha-(2->8)-sialidase activity, exo-alpha-(2->6)-sialidase activity, exo-alpha-(2->3)-sialidase activity, protein binding, exo-alpha-sialidase activity, exo-alpha-sialidase activity, exo-alpha-sialidase activity, GO:0051692, GO:0009313, GO:0009313, GO:0006689, GO:0006689, GO:0006687, GO:0006516, cellular oligosaccharide catabolic process, oligosaccharide catabolic process, oligosaccharide catabolic process, ganglioside catabolic process, ganglioside catabolic process, glycosphingolipid metabolic process, glycoprotein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000115504 chr2 62673851 63046487 + EHBP1 protein_coding This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. 23301 GO:0031941, GO:0005886, GO:0005829, GO:0005815, GO:0005768, GO:0005654, filamentous actin, plasma membrane, cytosol, microtubule organizing center, endosome, nucleoplasm, GO:0030036, GO:0015031, GO:0006897, actin cytoskeleton organization, protein transport, endocytosis, 42 29 57 69 41 49 75 36 59 ENSG00000115507 chr2 63050057 63057836 + OTX1 protein_coding This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 5013 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048852, GO:0045944, GO:0042472, GO:0030901, GO:0022037, GO:0009952, GO:0006357, diencephalon morphogenesis, positive regulation of transcription by RNA polymerase II, inner ear morphogenesis, midbrain development, metencephalon development, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, 110 54 118 10 14 29 31 25 18 ENSG00000115514 chr2 99318982 99340702 - TXNDC9 protein_coding The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq, Jul 2008]. 10190 GO:0030496, GO:0005829, GO:0005813, GO:0005634, midbody, cytosol, centrosome, nucleus, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0008150, biological_process, 80 69 61 68 67 50 46 65 45 ENSG00000115520 chr2 197453423 197475308 + COQ10B protein_coding 80219 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0048039, ubiquinone binding, GO:0045333, GO:0006744, cellular respiration, ubiquinone biosynthetic process, 1072 1046 999 580 764 883 752 829 590 ENSG00000115523 chr2 85685175 85698854 + GNLY protein_coding The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 10578 GO:0097013, GO:0044194, GO:0044194, GO:0005615, GO:0005576, phagocytic vesicle lumen, cytolytic granule, cytolytic granule, extracellular space, extracellular region, GO:0005515, protein binding, GO:0061844, GO:0061844, GO:0050832, GO:0042742, GO:0042742, GO:0031640, GO:0031640, GO:0019730, GO:0006968, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to fungus, defense response to bacterium, defense response to bacterium, killing of cells of other organism, killing of cells of other organism, antimicrobial humoral response, cellular defense response, 90 144 479 248 276 1043 246 243 770 ENSG00000115524 chr2 197389784 197435091 - SF3B1 protein_coding This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 23451 GO:0071013, GO:0071013, GO:0071005, GO:0071004, GO:0034693, GO:0016607, GO:0005689, GO:0005689, GO:0005686, GO:0005686, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U2-type prespliceosome, U11/U12 snRNP, nuclear speck, U12-type spliceosomal complex, U12-type spliceosomal complex, U2 snRNP, U2 snRNP, spliceosomal complex, nucleoplasm, nucleus, GO:1990935, GO:0005515, GO:0003729, GO:0003723, GO:0003723, splicing factor binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:0045815, GO:0008380, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000375, GO:0000245, positive regulation of gene expression, epigenetic, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, spliceosomal complex assembly, 12510 12334 16110 7821 10678 9313 8423 7733 7100 ENSG00000115525 chr2 85837120 85905199 - ST3GAL5 protein_coding Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8869 GO:0016021, GO:0005887, GO:0000139, GO:0000139, integral component of membrane, integral component of plasma membrane, Golgi membrane, Golgi membrane, GO:0047291, GO:0047291, GO:0008373, GO:0004513, lactosylceramide alpha-2,3-sialyltransferase activity, lactosylceramide alpha-2,3-sialyltransferase activity, sialyltransferase activity, neolactotetraosylceramide alpha-2,3-sialyltransferase activity, GO:0097503, GO:0006688, GO:0006486, GO:0005975, GO:0001574, sialylation, glycosphingolipid biosynthetic process, protein glycosylation, carbohydrate metabolic process, ganglioside biosynthetic process, 24 33 79 64 34 48 50 19 46 ENSG00000115526 chr2 100391860 100417656 - CHST10 protein_coding This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011]. 9486 GO:0016021, GO:0016020, GO:0005794, GO:0000139, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, GO:0016232, GO:0008146, HNK-1 sulfotransferase activity, sulfotransferase activity, GO:0030166, GO:0016051, GO:0007155, proteoglycan biosynthetic process, carbohydrate biosynthetic process, cell adhesion, 0 2 5 3 1 3 2 3 14 ENSG00000115539 chr2 100562690 100576735 + PDCL3 protein_coding This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]. 79031 GO:0097356, GO:0048471, GO:0032991, GO:0005829, GO:0005783, GO:0005737, GO:0005654, perinucleolar compartment, perinuclear region of cytoplasm, protein-containing complex, cytosol, endoplasmic reticulum, cytoplasm, nucleoplasm, GO:0044183, GO:0044183, GO:0043184, GO:0005515, protein folding chaperone, protein folding chaperone, vascular endothelial growth factor receptor 2 binding, protein binding, GO:2000059, GO:1903645, GO:0061077, GO:0050821, GO:0050730, GO:0045766, GO:0034605, GO:0030036, GO:0010628, GO:0006915, GO:0001938, GO:0001525, negative regulation of ubiquitin-dependent protein catabolic process, negative regulation of chaperone-mediated protein folding, chaperone-mediated protein folding, protein stabilization, regulation of peptidyl-tyrosine phosphorylation, positive regulation of angiogenesis, cellular response to heat, actin cytoskeleton organization, positive regulation of gene expression, apoptotic process, positive regulation of endothelial cell proliferation, angiogenesis, 21 17 24 50 10 30 25 23 36 ENSG00000115540 chr2 197515571 197553699 + MOB4 protein_coding This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011]. 25843 GO:0048471, GO:0032580, GO:0005794, GO:0005737, perinuclear region of cytoplasm, Golgi cisterna membrane, Golgi apparatus, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, 89 82 119 62 133 88 101 154 73 ENSG00000115541 chr2 197499994 197503457 + HSPE1 protein_coding This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]. 3336 GO:0070062, GO:0016020, GO:0005759, GO:0005739, extracellular exosome, membrane, mitochondrial matrix, mitochondrion, GO:0051087, GO:0051087, GO:0051082, GO:0051082, GO:0046872, GO:0005524, GO:0005515, GO:0003723, chaperone binding, chaperone binding, unfolded protein binding, unfolded protein binding, metal ion binding, ATP binding, protein binding, RNA binding, GO:0051085, GO:0006986, GO:0006919, GO:0006457, GO:0001649, chaperone cofactor-dependent protein refolding, response to unfolded protein, activation of cysteine-type endopeptidase activity involved in apoptotic process, protein folding, osteoblast differentiation, 31 38 52 265 436 199 155 194 151 ENSG00000115548 chr2 86440647 86492716 + KDM3A protein_coding This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 55818 GO:0016020, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000118, membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, histone deacetylase complex, GO:0051213, GO:0050681, GO:0032454, GO:0032454, GO:0031490, GO:0005515, GO:0005506, GO:0003712, GO:0003700, GO:0000979, dioxygenase activity, androgen receptor binding, histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), chromatin DNA binding, protein binding, iron ion binding, transcription coregulator activity, DNA-binding transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding, GO:2000736, GO:2000036, GO:1990830, GO:0120162, GO:0055114, GO:0051573, GO:0046293, GO:0045944, GO:0045893, GO:0036123, GO:0033169, GO:0033169, GO:0033169, GO:0030521, GO:0009755, GO:0007290, GO:0006357, regulation of stem cell differentiation, regulation of stem cell population maintenance, cellular response to leukemia inhibitory factor, positive regulation of cold-induced thermogenesis, oxidation-reduction process, negative regulation of histone H3-K9 methylation, formaldehyde biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, histone H3-K9 dimethylation, histone H3-K9 demethylation, histone H3-K9 demethylation, histone H3-K9 demethylation, androgen receptor signaling pathway, hormone-mediated signaling pathway, spermatid nucleus elongation, regulation of transcription by RNA polymerase II, 2185 2560 2672 1660 2315 2177 1622 1609 1756 ENSG00000115556 chr2 218607765 218637184 + PLCD4 protein_coding This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]. 84812 GO:0031965, GO:0005886, GO:0005829, GO:0005789, nuclear membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, GO:0005515, GO:0005509, GO:0005085, GO:0004435, protein binding, calcium ion binding, guanyl-nucleotide exchange factor activity, phosphatidylinositol phospholipase C activity, GO:0048015, GO:0046488, GO:0043647, GO:0016042, GO:0007340, phosphatidylinositol-mediated signaling, phosphatidylinositol metabolic process, inositol phosphate metabolic process, lipid catabolic process, acrosome reaction, 49 45 36 41 62 14 47 35 45 ENSG00000115561 chr2 86503431 86563479 - CHMP3 protein_coding This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]. 51652 GO:0070062, GO:0031902, GO:0031410, GO:0005886, GO:0005829, GO:0005771, GO:0005770, GO:0000815, GO:0000815, GO:0000815, extracellular exosome, late endosome membrane, cytoplasmic vesicle, plasma membrane, cytosol, multivesicular body, late endosome, ESCRT III complex, ESCRT III complex, ESCRT III complex, GO:1990381, GO:0031210, GO:0005515, ubiquitin-specific protease binding, phosphatidylcholine binding, protein binding, GO:2000641, GO:1903541, GO:1902188, GO:1902188, GO:1902187, GO:1901673, GO:0097352, GO:0071985, GO:0061952, GO:0061763, GO:0051258, GO:0050792, GO:0045324, GO:0039702, GO:0039702, GO:0039702, GO:0036258, GO:0032509, GO:0019058, GO:0016236, GO:0016197, GO:0015031, GO:0010824, GO:0007080, GO:0006997, GO:0006915, regulation of early endosome to late endosome transport, regulation of exosomal secretion, positive regulation of viral release from host cell, positive regulation of viral release from host cell, negative regulation of viral release from host cell, regulation of mitotic spindle assembly, autophagosome maturation, multivesicular body sorting pathway, midbody abscission, multivesicular body-lysosome fusion, protein polymerization, regulation of viral process, late endosome to vacuole transport, viral budding via host ESCRT complex, viral budding via host ESCRT complex, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, protein transport, regulation of centrosome duplication, mitotic metaphase plate congression, nucleus organization, apoptotic process, 664 635 681 316 558 351 400 455 360 ENSG00000115568 chr2 218637916 218659655 - ZNF142 protein_coding The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]. 7701 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0046872, GO:0003674, GO:0000981, GO:0000977, metal ion binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 108 175 136 94 130 90 99 101 81 ENSG00000115590 chr2 101991844 102028544 + IL1R2 protein_coding The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]. 7850 GO:0016021, GO:0005886, GO:0005737, GO:0005576, integral component of membrane, plasma membrane, cytoplasm, extracellular region, GO:0019966, GO:0005515, GO:0004910, GO:0004908, interleukin-1 binding, protein binding, interleukin-1, type II, blocking receptor activity, interleukin-1 receptor activity, GO:2000660, GO:1900016, GO:0070498, GO:0032690, GO:0019221, GO:0010955, GO:0006955, negative regulation of interleukin-1-mediated signaling pathway, negative regulation of cytokine production involved in inflammatory response, interleukin-1-mediated signaling pathway, negative regulation of interleukin-1 alpha production, cytokine-mediated signaling pathway, negative regulation of protein processing, immune response, 3642 3683 7949 1770 2981 3986 1716 2198 2653 ENSG00000115592 chr2 218822383 218832086 - PRKAG3 protein_coding The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]. 53632 GO:0031588, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005615, nucleotide-activated protein kinase complex, cytosol, cytoplasm, nucleoplasm, nucleus, extracellular space, GO:0019901, GO:0019901, GO:0019887, GO:0016208, GO:0005524, GO:0005515, GO:0004679, protein kinase binding, protein kinase binding, protein kinase regulator activity, AMP binding, ATP binding, protein binding, AMP-activated protein kinase activity, GO:1901796, GO:0071900, GO:0050790, GO:0042149, GO:0035556, GO:0016241, GO:0016236, GO:0014873, GO:0007050, GO:0006633, GO:0006468, GO:0006096, GO:0005978, regulation of signal transduction by p53 class mediator, regulation of protein serine/threonine kinase activity, regulation of catalytic activity, cellular response to glucose starvation, intracellular signal transduction, regulation of macroautophagy, macroautophagy, response to muscle activity involved in regulation of muscle adaptation, cell cycle arrest, fatty acid biosynthetic process, protein phosphorylation, glycolytic process, glycogen biosynthetic process, 4 0 1 1 3 0 1 3 0 ENSG00000115593 chr2 88067780 88113387 + SMYD1 protein_coding 150572 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0018024, GO:0005515, GO:0003714, GO:0003677, metal ion binding, histone-lysine N-methyltransferase activity, protein binding, transcription corepressor activity, DNA binding, GO:0045892, GO:0045663, GO:0035914, GO:0034968, GO:0010831, GO:0007507, GO:0006338, negative regulation of transcription, DNA-templated, positive regulation of myoblast differentiation, skeletal muscle cell differentiation, histone lysine methylation, positive regulation of myotube differentiation, heart development, chromatin remodeling, 0 0 0 0 0 0 0 0 0 ENSG00000115594 chr2 102064544 102179874 + IL1R1 protein_coding This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]. 3554 GO:0016020, GO:0009897, GO:0005887, GO:0005886, GO:0005576, membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0061809, GO:0050135, GO:0019966, GO:0005515, GO:0005161, GO:0004909, GO:0004908, GO:0004908, GO:0004888, GO:0002020, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, interleukin-1 binding, protein binding, platelet-derived growth factor receptor binding, interleukin-1, type I, activating receptor activity, interleukin-1 receptor activity, interleukin-1 receptor activity, transmembrane signaling receptor activity, protease binding, GO:2000661, GO:2000556, GO:2000391, GO:0070555, GO:0070498, GO:0070498, GO:0070498, GO:0050727, GO:0032729, GO:0019221, GO:0007166, GO:0006955, GO:0006954, positive regulation of interleukin-1-mediated signaling pathway, positive regulation of T-helper 1 cell cytokine production, positive regulation of neutrophil extravasation, response to interleukin-1, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, regulation of inflammatory response, positive regulation of interferon-gamma production, cytokine-mediated signaling pathway, cell surface receptor signaling pathway, immune response, inflammatory response, 999 1026 1750 959 1047 1437 1067 637 1278 ENSG00000115596 chr2 218859821 218874233 + WNT6 protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008]. 7475 GO:0070062, GO:0031012, GO:0030666, GO:0009986, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005576, extracellular exosome, extracellular matrix, endocytic vesicle membrane, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0005125, GO:0005109, cytokine activity, frizzled binding, GO:0072079, GO:0071300, GO:0070172, GO:0061303, GO:0060684, GO:0060070, GO:0045893, GO:0045165, GO:0042475, GO:0030182, GO:0030182, GO:0016055, GO:0010628, GO:0009798, GO:0001658, nephron tubule formation, cellular response to retinoic acid, positive regulation of tooth mineralization, cornea development in camera-type eye, epithelial-mesenchymal cell signaling, canonical Wnt signaling pathway, positive regulation of transcription, DNA-templated, cell fate commitment, odontogenesis of dentin-containing tooth, neuron differentiation, neuron differentiation, Wnt signaling pathway, positive regulation of gene expression, axis specification, branching involved in ureteric bud morphogenesis, 0 0 0 0 0 3 0 0 0 ENSG00000115598 chr2 102186973 102240002 + IL1RL2 protein_coding The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]. 8808 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0061809, GO:0050135, GO:0004909, GO:0004908, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, interleukin-1, type I, activating receptor activity, interleukin-1 receptor activity, GO:0071345, GO:0070498, GO:0050727, GO:0045582, GO:0045087, GO:0032755, GO:0019221, GO:0007165, GO:0006968, GO:0006954, cellular response to cytokine stimulus, interleukin-1-mediated signaling pathway, regulation of inflammatory response, positive regulation of T cell differentiation, innate immune response, positive regulation of interleukin-6 production, cytokine-mediated signaling pathway, signal transduction, cellular defense response, inflammatory response, 14 16 32 68 63 228 59 47 124 ENSG00000115602 chr2 102311502 102352037 + IL1RL1 protein_coding The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 9173 GO:0016021, GO:0009897, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005576, integral component of membrane, external side of plasma membrane, focal adhesion, plasma membrane, plasma membrane, cytosol, extracellular region, GO:0061809, GO:0050135, GO:0005515, GO:0004908, GO:0004896, GO:0002114, GO:0002113, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, protein binding, interleukin-1 receptor activity, cytokine receptor activity, interleukin-33 receptor activity, interleukin-33 binding, GO:0050729, GO:0043032, GO:0038172, GO:0032754, GO:0032689, GO:0007165, GO:0006955, GO:0002826, positive regulation of inflammatory response, positive regulation of macrophage activation, interleukin-33-mediated signaling pathway, positive regulation of interleukin-5 production, negative regulation of interferon-gamma production, signal transduction, immune response, negative regulation of T-helper 1 type immune response, 53 335 272 13 17 0 3 11 0 ENSG00000115604 chr2 102311529 102398775 + IL18R1 protein_coding The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 8809 GO:0045092, GO:0005886, interleukin-18 receptor complex, plasma membrane, GO:0061809, GO:0050135, GO:0042008, GO:0042008, GO:0042007, GO:0042007, GO:0038023, GO:0005515, GO:0004908, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, interleukin-18 receptor activity, interleukin-18 receptor activity, interleukin-18 binding, interleukin-18 binding, signaling receptor activity, protein binding, interleukin-1 receptor activity, GO:2000556, GO:1901224, GO:0120163, GO:0071345, GO:0051092, GO:0045063, GO:0035655, GO:0035655, GO:0035655, GO:0032729, GO:0032729, GO:0030101, GO:0007165, GO:0006955, GO:0006954, positive regulation of T-helper 1 cell cytokine production, positive regulation of NIK/NF-kappaB signaling, negative regulation of cold-induced thermogenesis, cellular response to cytokine stimulus, positive regulation of NF-kappaB transcription factor activity, T-helper 1 cell differentiation, interleukin-18-mediated signaling pathway, interleukin-18-mediated signaling pathway, interleukin-18-mediated signaling pathway, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, natural killer cell activation, signal transduction, immune response, inflammatory response, 332 267 276 239 254 227 280 165 178 ENSG00000115607 chr2 102418689 102452565 + IL18RAP protein_coding The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]. 8807 GO:0045092, GO:0005886, interleukin-18 receptor complex, plasma membrane, GO:0061809, GO:0050135, GO:0042008, GO:0042008, GO:0005515, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, interleukin-18 receptor activity, interleukin-18 receptor activity, protein binding, GO:0051092, GO:0051092, GO:0035655, GO:0035655, GO:0035655, GO:0006955, GO:0006954, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, interleukin-18-mediated signaling pathway, interleukin-18-mediated signaling pathway, interleukin-18-mediated signaling pathway, immune response, inflammatory response, 1820 1415 853 894 1472 452 912 1051 393 ENSG00000115616 chr2 102619707 102711318 + SLC9A2 protein_coding This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]. 6549 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0015386, GO:0015385, potassium:proton antiporter activity, sodium:proton antiporter activity, GO:1902600, GO:0098719, GO:0098656, GO:0071805, GO:0051453, GO:0008104, GO:0006811, proton transmembrane transport, sodium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, protein localization, ion transport, 1 0 0 0 2 0 0 2 0 ENSG00000115641 chr2 105357712 105438513 - FHL2 protein_coding This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2016]. 2274 GO:0031430, GO:0030018, GO:0005925, GO:0005654, GO:0005634, M band, Z disc, focal adhesion, nucleoplasm, nucleus, GO:0046872, GO:0043425, GO:0042802, GO:0008134, GO:0008134, GO:0005515, GO:0003714, GO:0003712, metal ion binding, bHLH transcription factor binding, identical protein binding, transcription factor binding, transcription factor binding, protein binding, transcription corepressor activity, transcription coregulator activity, GO:0070885, GO:0070885, GO:0060347, GO:0055015, GO:0055014, GO:0043066, GO:0019216, GO:0009725, GO:0001649, GO:0000122, GO:0000122, negative regulation of calcineurin-NFAT signaling cascade, negative regulation of calcineurin-NFAT signaling cascade, heart trabecula formation, ventricular cardiac muscle cell development, atrial cardiac muscle cell development, negative regulation of apoptotic process, regulation of lipid metabolic process, response to hormone, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 13 20 15 15 26 41 22 15 11 ENSG00000115648 chr2 237485428 237555318 + MLPH protein_coding This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]. 79083 GO:0070062, GO:0048471, GO:0030864, GO:0030425, extracellular exosome, perinuclear region of cytoplasm, cortical actin cytoskeleton, dendrite, GO:0046872, GO:0031267, GO:0031267, GO:0030674, GO:0017022, GO:0017022, GO:0005515, GO:0003779, metal ion binding, small GTPase binding, small GTPase binding, protein-macromolecule adaptor activity, myosin binding, myosin binding, protein binding, actin binding, GO:0032402, GO:0006886, melanosome transport, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000115649 chr2 219171897 219178106 - CNPPD1 protein_coding 27013 GO:0016021, GO:0005634, GO:0000307, integral component of membrane, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0019901, GO:0016538, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, GO:0000079, regulation of cyclin-dependent protein serine/threonine kinase activity, 608 729 716 293 542 419 397 536 328 ENSG00000115652 chr2 106093303 106194339 - UXS1 protein_coding This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]. 80146 GO:1902494, GO:0070062, GO:0032580, GO:0016021, GO:0005737, catalytic complex, extracellular exosome, Golgi cisterna membrane, integral component of membrane, cytoplasm, GO:0070403, GO:0070403, GO:0048040, GO:0048040, GO:0042803, GO:0042802, NAD+ binding, NAD+ binding, UDP-glucuronate decarboxylase activity, UDP-glucuronate decarboxylase activity, protein homodimerization activity, identical protein binding, GO:0033320, UDP-D-xylose biosynthetic process, 56 46 86 87 54 126 96 50 99 ENSG00000115657 chr2 219209766 219219017 - ABCB6 protein_coding This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]. 10058 GO:0070062, GO:0043190, GO:0031307, GO:0016021, GO:0010008, GO:0005886, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0005774, GO:0005768, GO:0005741, GO:0005741, GO:0005740, GO:0005739, GO:0005739, GO:0005654, GO:0000139, extracellular exosome, ATP-binding cassette (ABC) transporter complex, integral component of mitochondrial outer membrane, integral component of membrane, endosome membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, vacuolar membrane, endosome, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial envelope, mitochondrion, mitochondrion, nucleoplasm, Golgi membrane, GO:0042626, GO:0020037, GO:0020037, GO:0016887, GO:0015562, GO:0015439, GO:0015439, GO:0005524, ATPase-coupled transmembrane transporter activity, heme binding, heme binding, ATPase activity, efflux transmembrane transporter activity, ATPase-coupled heme transmembrane transporter activity, ATPase-coupled heme transmembrane transporter activity, ATP binding, GO:0055085, GO:0055085, GO:0043588, GO:0035351, GO:0015886, GO:0015886, GO:0015886, GO:0007420, GO:0006879, GO:0006779, transmembrane transport, transmembrane transport, skin development, heme transmembrane transport, heme transport, heme transport, heme transport, brain development, cellular iron ion homeostasis, porphyrin-containing compound biosynthetic process, 9 2 1 8 6 9 2 7 13 ENSG00000115661 chr2 219245455 219250337 + STK16 protein_coding 8576 GO:0048471, GO:0016020, GO:0005829, GO:0005798, GO:0005794, GO:0005737, perinuclear region of cytoplasm, membrane, cytosol, Golgi-associated vesicle, Golgi apparatus, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004715, GO:0004674, GO:0000978, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein serine/threonine kinase activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0046777, GO:0045944, GO:0018108, protein autophosphorylation, positive regulation of transcription by RNA polymerase II, peptidyl-tyrosine phosphorylation, 295 316 330 149 257 288 167 224 247 ENSG00000115665 chr2 107986523 108013994 + SLC5A7 protein_coding This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 60482 GO:0098793, GO:0045202, GO:0043204, GO:0031594, GO:0030425, GO:0030424, GO:0016021, GO:0005886, GO:0005886, GO:0005886, presynapse, synapse, perikaryon, neuromuscular junction, dendrite, axon, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0033265, GO:0015220, GO:0015220, GO:0005307, GO:0005307, choline binding, choline transmembrane transporter activity, choline transmembrane transporter activity, choline:sodium symporter activity, choline:sodium symporter activity, GO:0055085, GO:0015871, GO:0008292, GO:0008292, GO:0007274, GO:0007271, GO:0007269, GO:0006814, transmembrane transport, choline transport, acetylcholine biosynthetic process, acetylcholine biosynthetic process, neuromuscular synaptic transmission, synaptic transmission, cholinergic, neurotransmitter secretion, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000115677 chr2 241227264 241317061 - HDLBP protein_coding The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]. 3069 GO:0034364, GO:0005886, GO:0005844, GO:0005829, GO:0005737, GO:0005634, high-density lipoprotein particle, plasma membrane, polysome, cytosol, cytoplasm, nucleus, GO:0045296, GO:0008289, GO:0005515, GO:0003729, GO:0003723, cadherin binding, lipid binding, protein binding, mRNA binding, RNA binding, GO:0034384, GO:0008203, GO:0006869, high-density lipoprotein particle clearance, cholesterol metabolic process, lipid transport, 1532 1402 1981 1168 1334 1283 1224 837 1139 ENSG00000115685 chr2 241149576 241183652 + PPP1R7 protein_coding This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 5510 GO:0070062, GO:0005737, GO:0005694, GO:0005634, extracellular exosome, cytoplasm, chromosome, nucleus, GO:0030234, GO:0019888, GO:0005515, enzyme regulator activity, protein phosphatase regulator activity, protein binding, GO:0043666, GO:0035307, regulation of phosphoprotein phosphatase activity, positive regulation of protein dephosphorylation, 203 204 209 128 157 138 142 201 138 ENSG00000115687 chr2 241106099 241150264 - PASK protein_coding This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 23178 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0035091, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, phosphatidylinositol binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0097009, GO:0070092, GO:0046777, GO:0045727, GO:0045719, GO:0045719, GO:0043576, GO:0035556, GO:0006468, GO:0006468, energy homeostasis, regulation of glucagon secretion, protein autophosphorylation, positive regulation of translation, negative regulation of glycogen biosynthetic process, negative regulation of glycogen biosynthetic process, regulation of respiratory gaseous exchange, intracellular signal transduction, protein phosphorylation, protein phosphorylation, 96 50 79 153 26 44 135 31 27 ENSG00000115694 chr2 241492674 241509730 - STK25 protein_coding This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]. 10494 GO:0070062, GO:0005794, GO:0005737, GO:0000139, extracellular exosome, Golgi apparatus, cytoplasm, Golgi membrane, GO:0106311, GO:0106310, GO:0046872, GO:0042803, GO:0005524, GO:0005515, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, protein homodimerization activity, ATP binding, protein binding, protein kinase activity, GO:0090168, GO:0051683, GO:0051645, GO:0046777, GO:0042542, GO:0036481, GO:0032874, GO:0007165, GO:0006979, GO:0006468, Golgi reassembly, establishment of Golgi localization, Golgi localization, protein autophosphorylation, response to hydrogen peroxide, intrinsic apoptotic signaling pathway in response to hydrogen peroxide, positive regulation of stress-activated MAPK cascade, signal transduction, response to oxidative stress, protein phosphorylation, 81 105 144 145 115 174 125 92 100 ENSG00000115705 chr2 1374066 1543711 + TPO protein_coding This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]. 7173 GO:0009986, GO:0005887, GO:0005886, GO:0005615, GO:0005615, cell surface, integral component of plasma membrane, plasma membrane, extracellular space, extracellular space, GO:0020037, GO:0005509, GO:0004601, GO:0004601, GO:0004447, heme binding, calcium ion binding, peroxidase activity, peroxidase activity, iodide peroxidase activity, GO:0098869, GO:0055114, GO:0042744, GO:0042446, GO:0035162, GO:0006979, GO:0006590, GO:0006590, cellular oxidant detoxification, oxidation-reduction process, hydrogen peroxide catabolic process, hormone biosynthetic process, embryonic hemopoiesis, response to oxidative stress, thyroid hormone generation, thyroid hormone generation, 0 0 0 0 0 0 0 0 0 ENSG00000115718 chr2 127418427 127429246 + PROC protein_coding This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]. 5624 GO:0005796, GO:0005794, GO:0005788, GO:0005783, GO:0005615, GO:0005576, GO:0005576, Golgi lumen, Golgi apparatus, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005509, GO:0004252, GO:0004252, GO:0004252, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:1903142, GO:0050819, GO:0050728, GO:0044267, GO:0043687, GO:0043066, GO:0030195, GO:0030195, GO:0007596, GO:0006888, GO:0006508, positive regulation of establishment of endothelial barrier, negative regulation of coagulation, negative regulation of inflammatory response, cellular protein metabolic process, post-translational protein modification, negative regulation of apoptotic process, negative regulation of blood coagulation, negative regulation of blood coagulation, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, proteolysis, 5 18 11 8 14 5 3 14 10 ENSG00000115738 chr2 8678845 8684453 + ID2 protein_coding The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]. 3398 GO:0032991, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0000791, protein-containing complex, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, euchromatin, GO:0140416, GO:0140416, GO:0140110, GO:0046983, GO:0044325, GO:0005515, GO:0001102, transcription regulator inhibitor activity, transcription regulator inhibitor activity, transcription regulator activity, protein dimerization activity, ion channel binding, protein binding, RNA polymerase II activating transcription factor binding, GO:2000177, GO:2000045, GO:1904797, GO:0090398, GO:0071931, GO:0071285, GO:0071158, GO:0061031, GO:0061030, GO:0060749, GO:0060612, GO:0051148, GO:0048715, GO:0048711, GO:0048667, GO:0048663, GO:0048661, GO:0048557, GO:0048541, GO:0048469, GO:0045893, GO:0045892, GO:0045777, GO:0045668, GO:0045665, GO:0045664, GO:0045651, GO:0045648, GO:0045600, GO:0045578, GO:0045475, GO:0043433, GO:0043353, GO:0043153, GO:0042752, GO:0033598, GO:0032922, GO:0032922, GO:0030154, GO:0021772, GO:0019216, GO:0014003, GO:0010629, GO:0010628, GO:0008344, GO:0003166, GO:0003149, GO:0001966, GO:0001779, GO:0001656, GO:0000122, GO:0000122, regulation of neural precursor cell proliferation, regulation of G1/S transition of mitotic cell cycle, negative regulation of core promoter binding, cellular senescence, positive regulation of transcription involved in G1/S transition of mitotic cell cycle, cellular response to lithium ion, positive regulation of cell cycle arrest, endodermal digestive tract morphogenesis, epithelial cell differentiation involved in mammary gland alveolus development, mammary gland alveolus development, adipose tissue development, negative regulation of muscle cell differentiation, negative regulation of oligodendrocyte differentiation, positive regulation of astrocyte differentiation, cell morphogenesis involved in neuron differentiation, neuron fate commitment, positive regulation of smooth muscle cell proliferation, embryonic digestive tract morphogenesis, Peyer's patch development, cell maturation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of blood pressure, negative regulation of osteoblast differentiation, negative regulation of neuron differentiation, regulation of neuron differentiation, positive regulation of macrophage differentiation, positive regulation of erythrocyte differentiation, positive regulation of fat cell differentiation, negative regulation of B cell differentiation, locomotor rhythm, negative regulation of DNA-binding transcription factor activity, enucleate erythrocyte differentiation, entrainment of circadian clock by photoperiod, regulation of circadian rhythm, mammary gland epithelial cell proliferation, circadian regulation of gene expression, circadian regulation of gene expression, cell differentiation, olfactory bulb development, regulation of lipid metabolic process, oligodendrocyte development, negative regulation of gene expression, positive regulation of gene expression, adult locomotory behavior, bundle of His development, membranous septum morphogenesis, thigmotaxis, natural killer cell differentiation, metanephros development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 412 385 663 1290 2202 1699 542 648 881 ENSG00000115750 chr2 9843354 9934416 + TAF1B protein_coding Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 9014 GO:0070860, GO:0070860, GO:0005730, GO:0005668, GO:0005654, GO:0005654, GO:0005634, RNA polymerase I core factor complex, RNA polymerase I core factor complex, nucleolus, RNA polymerase transcription factor SL1 complex, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0017025, GO:0005515, GO:0001164, GO:0001164, metal ion binding, TBP-class protein binding, protein binding, RNA polymerase I core promoter sequence-specific DNA binding, RNA polymerase I core promoter sequence-specific DNA binding, GO:0045815, GO:0042790, GO:0006363, GO:0006362, GO:0006361, GO:0006351, GO:0001188, positive regulation of gene expression, epigenetic, nucleolar large rRNA transcription by RNA polymerase I, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription, DNA-templated, RNA polymerase I preinitiation complex assembly, 9 7 26 23 5 46 32 7 33 ENSG00000115756 chr2 10302889 10427617 + HPCAL1 protein_coding The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]. 3241 GO:0016020, membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, 1016 849 1054 684 641 751 785 600 636 ENSG00000115758 chr2 10439968 10448504 - ODC1 protein_coding This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]. 4953 GO:0048471, GO:0005829, GO:0005737, GO:0005737, GO:0005575, perinuclear region of cytoplasm, cytosol, cytoplasm, cytoplasm, cellular_component, GO:0042803, GO:0005515, GO:0004586, GO:0004586, GO:0004586, GO:0004586, protein homodimerization activity, protein binding, ornithine decarboxylase activity, ornithine decarboxylase activity, ornithine decarboxylase activity, ornithine decarboxylase activity, GO:0042176, GO:0033387, GO:0033387, GO:0033387, GO:0009615, GO:0008284, GO:0006595, GO:0006521, GO:0001822, regulation of protein catabolic process, putrescine biosynthetic process from ornithine, putrescine biosynthetic process from ornithine, putrescine biosynthetic process from ornithine, response to virus, positive regulation of cell population proliferation, polyamine metabolic process, regulation of cellular amino acid metabolic process, kidney development, 148 128 295 242 164 325 196 95 212 ENSG00000115760 chr2 32357028 32618899 + BIRC6 protein_coding This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008]. 57448 GO:0090543, GO:0030496, GO:0016020, GO:0005815, GO:0005802, GO:0005768, GO:0005634, GO:0000922, Flemming body, midbody, membrane, microtubule organizing center, trans-Golgi network, endosome, nucleus, spindle pole, GO:0061631, GO:0005515, GO:0004869, GO:0004869, GO:0004842, ubiquitin conjugating enzyme activity, protein binding, cysteine-type endopeptidase inhibitor activity, cysteine-type endopeptidase inhibitor activity, ubiquitin-protein transferase activity, GO:2001237, GO:0060711, GO:0051301, GO:0043066, GO:0043066, GO:0043066, GO:0042127, GO:0032465, GO:0016567, GO:0010951, GO:0008284, GO:0007049, GO:0006915, GO:0006511, GO:0006468, negative regulation of extrinsic apoptotic signaling pathway, labyrinthine layer development, cell division, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, regulation of cell population proliferation, regulation of cytokinesis, protein ubiquitination, negative regulation of endopeptidase activity, positive regulation of cell population proliferation, cell cycle, apoptotic process, ubiquitin-dependent protein catabolic process, protein phosphorylation, 1539 1747 1962 915 999 1196 1036 805 1010 ENSG00000115761 chr2 10570766 10689987 - NOL10 protein_coding 79954 GO:0032040, GO:0005730, GO:0005730, small-subunit processome, nucleolus, nucleolus, GO:0003723, RNA binding, GO:0000462, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 36 17 38 55 37 83 54 33 47 ENSG00000115762 chr2 131104847 131353709 + PLEKHB2 protein_coding 55041 GO:0055038, GO:0016021, recycling endosome membrane, integral component of membrane, GO:0005547, GO:0005515, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, GO:0045595, regulation of cell differentiation, 1965 1886 2488 910 1203 1261 998 996 960 ENSG00000115806 chr2 170928464 170967129 + GORASP2 protein_coding This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 26003 GO:0016020, GO:0005794, GO:0005794, GO:0005789, GO:0000139, GO:0000139, membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, Golgi membrane, Golgi membrane, GO:0005515, protein binding, GO:0070925, GO:0061951, GO:0061951, GO:0034976, GO:0030154, GO:0007283, GO:0007030, GO:0006996, organelle assembly, establishment of protein localization to plasma membrane, establishment of protein localization to plasma membrane, response to endoplasmic reticulum stress, cell differentiation, spermatogenesis, Golgi organization, organelle organization, 67 38 97 61 58 70 75 45 41 ENSG00000115808 chr2 36843640 36966472 - STRN protein_coding 6801 GO:0090443, GO:0045211, GO:0043197, GO:0043025, GO:0030425, GO:0016020, GO:0014069, GO:0005923, GO:0005737, FAR/SIN/STRIPAK complex, postsynaptic membrane, dendritic spine, neuronal cell body, dendrite, membrane, postsynaptic density, bicellular tight junction, cytoplasm, GO:0070016, GO:0070016, GO:0051721, GO:0051721, GO:0044877, GO:0044877, GO:0030331, GO:0005516, GO:0005516, GO:0005516, GO:0005515, armadillo repeat domain binding, armadillo repeat domain binding, protein phosphatase 2A binding, protein phosphatase 2A binding, protein-containing complex binding, protein-containing complex binding, estrogen receptor binding, calmodulin binding, calmodulin binding, calmodulin binding, protein binding, GO:0070830, GO:0016358, GO:0016055, GO:0008285, GO:0007626, bicellular tight junction assembly, dendrite development, Wnt signaling pathway, negative regulation of cell population proliferation, locomotory behavior, 1112 1194 1405 524 890 907 817 683 814 ENSG00000115816 chr2 37201612 37231713 - CEBPZ protein_coding This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 2020]. 10153 GO:0005634, GO:0005634, nucleus, nucleus, GO:0003723, GO:0003713, GO:0003677, RNA binding, transcription coactivator activity, DNA binding, GO:0045944, positive regulation of transcription by RNA polymerase II, 263 248 359 327 201 240 278 169 178 ENSG00000115825 chr2 37250502 37324808 - PRKD3 protein_coding This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]. 23683 GO:0016020, GO:0005829, GO:0005829, GO:0005654, membrane, cytosol, cytosol, nucleoplasm, GO:0046872, GO:0016301, GO:0005524, GO:0005515, GO:0004698, GO:0004697, metal ion binding, kinase activity, ATP binding, protein binding, calcium-dependent protein kinase C activity, protein kinase C activity, GO:0089700, GO:0030148, GO:0007205, GO:0006468, protein kinase D signaling, sphingolipid biosynthetic process, protein kinase C-activating G protein-coupled receptor signaling pathway, protein phosphorylation, 188 110 232 182 124 203 164 85 127 ENSG00000115827 chr2 171434217 171485052 + DCAF17 protein_coding This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 80067 GO:0080008, GO:0080008, GO:0016021, GO:0005829, GO:0005730, GO:0005654, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, integral component of membrane, cytosol, nucleolus, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 20 16 47 63 25 84 86 24 74 ENSG00000115828 chr2 37342827 37373322 + QPCT protein_coding This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008]. 25797 GO:1904813, GO:1904724, GO:0070062, GO:0035580, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, specific granule lumen, extracellular region, GO:0016603, GO:0016603, GO:0008270, GO:0008270, GO:0005515, glutaminyl-peptide cyclotransferase activity, glutaminyl-peptide cyclotransferase activity, zinc ion binding, zinc ion binding, protein binding, GO:0043312, GO:0017186, GO:0017186, GO:0006464, neutrophil degranulation, peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase, peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase, cellular protein modification process, 2391 1669 3293 418 889 752 619 951 732 ENSG00000115839 chr2 135052265 135176394 + RAB3GAP1 protein_coding This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]. 22930 GO:0098794, GO:0071782, GO:0070062, GO:0032991, GO:0005829, GO:0005811, GO:0005794, GO:0005789, postsynapse, endoplasmic reticulum tubular network, extracellular exosome, protein-containing complex, cytosol, lipid droplet, Golgi apparatus, endoplasmic reticulum membrane, GO:0031267, GO:0005515, GO:0005096, GO:0005096, GO:0005096, GO:0005085, GO:0005085, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000786, GO:1903373, GO:1903233, GO:1903061, GO:0097051, GO:0061646, GO:0060325, GO:0060079, GO:0048172, GO:0043547, GO:0043547, GO:0043547, GO:0043087, GO:0043010, GO:0034389, GO:0021854, GO:0010628, GO:0007420, positive regulation of autophagosome assembly, positive regulation of endoplasmic reticulum tubular network organization, regulation of calcium ion-dependent exocytosis of neurotransmitter, positive regulation of protein lipidation, establishment of protein localization to endoplasmic reticulum membrane, positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization, face morphogenesis, excitatory postsynaptic potential, regulation of short-term neuronal synaptic plasticity, positive regulation of GTPase activity, positive regulation of GTPase activity, positive regulation of GTPase activity, regulation of GTPase activity, camera-type eye development, lipid droplet organization, hypothalamus development, positive regulation of gene expression, brain development, 331 318 415 284 242 280 281 210 231 ENSG00000115840 chr2 171784370 171999859 - SLC25A12 protein_coding This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]. 8604 GO:0016021, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0042802, GO:0022857, GO:0015183, GO:0015183, GO:0005509, GO:0005347, GO:0005313, GO:0005313, identical protein binding, transmembrane transporter activity, L-aspartate transmembrane transporter activity, L-aspartate transmembrane transporter activity, calcium ion binding, ATP transmembrane transporter activity, L-glutamate transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:2001171, GO:1904024, GO:0070778, GO:0051592, GO:0043490, GO:0043490, GO:0031643, GO:0015867, GO:0015813, GO:0015813, GO:0015810, GO:0015810, GO:0010907, GO:0006810, GO:0006537, GO:0006094, positive regulation of ATP biosynthetic process, negative regulation of glucose catabolic process to lactate via pyruvate, L-aspartate transmembrane transport, response to calcium ion, malate-aspartate shuttle, malate-aspartate shuttle, positive regulation of myelination, ATP transport, L-glutamate transmembrane transport, L-glutamate transmembrane transport, aspartate transmembrane transport, aspartate transmembrane transport, positive regulation of glucose metabolic process, transport, glutamate biosynthetic process, gluconeogenesis, 33 19 30 29 19 46 51 26 54 ENSG00000115841 chr2 37923187 38067142 + RMDN2 protein_coding 151393 GO:0097431, GO:0072686, GO:0016021, GO:0005876, GO:0005829, GO:0005794, mitotic spindle pole, mitotic spindle, integral component of membrane, spindle microtubule, cytosol, Golgi apparatus, GO:0008017, GO:0005515, microtubule binding, protein binding, 27 26 47 29 43 31 18 33 39 ENSG00000115844 chr2 172099439 172102900 - DLX2 protein_coding Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]. 1746 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003727, GO:0003700, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, single-stranded RNA binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902871, GO:0051216, GO:0048755, GO:0048715, GO:0048701, GO:0046533, GO:0045944, GO:0045746, GO:0045597, GO:0042475, GO:0030154, GO:0021893, GO:0021772, GO:0021766, GO:0021544, GO:0009954, GO:0009790, GO:0007420, GO:0006357, GO:0000122, positive regulation of amacrine cell differentiation, cartilage development, branching morphogenesis of a nerve, negative regulation of oligodendrocyte differentiation, embryonic cranial skeleton morphogenesis, negative regulation of photoreceptor cell differentiation, positive regulation of transcription by RNA polymerase II, negative regulation of Notch signaling pathway, positive regulation of cell differentiation, odontogenesis of dentin-containing tooth, cell differentiation, cerebral cortex GABAergic interneuron fate commitment, olfactory bulb development, hippocampus development, subpallium development, proximal/distal pattern formation, embryo development, brain development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 39 70 64 40 22 22 ENSG00000115850 chr2 135787840 135837180 - LCT protein_coding The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]. 3938 GO:0016324, GO:0016020, GO:0005887, GO:0005886, GO:0005783, apical plasma membrane, membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:0017042, GO:0008422, GO:0000016, glycosylceramidase activity, beta-glucosidase activity, lactase activity, GO:0044245, GO:0005975, polysaccharide digestion, carbohydrate metabolic process, 0 0 0 0 0 4 1 0 2 ENSG00000115866 chr2 135906677 135986100 - DARS protein_coding This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 1615 GO:0070062, GO:0045202, GO:0017101, GO:0017101, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, synapse, aminoacyl-tRNA synthetase multienzyme complex, aminoacyl-tRNA synthetase multienzyme complex, membrane, cytosol, cytosol, cytosol, cytoplasm, GO:0005524, GO:0005515, GO:0004815, GO:0004046, GO:0003723, GO:0003723, ATP binding, protein binding, aspartate-tRNA ligase activity, aminoacylase activity, RNA binding, RNA binding, GO:0065003, GO:0006422, GO:0006418, GO:0006412, protein-containing complex assembly, aspartyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, translation, 153 129 154 131 107 120 156 101 125 ENSG00000115875 chr2 38743599 38751494 - SRSF7 protein_coding The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]. 6432 GO:0070062, GO:0016607, GO:0005737, GO:0005654, GO:0005654, extracellular exosome, nuclear speck, cytoplasm, nucleoplasm, nucleoplasm, GO:0019904, GO:0008270, GO:0005515, GO:0003723, GO:0003723, protein domain specific binding, zinc ion binding, protein binding, RNA binding, RNA binding, GO:1990830, GO:0048025, GO:0045292, GO:0031124, GO:0008380, GO:0006406, GO:0006405, GO:0006397, GO:0000398, GO:0000381, cellular response to leukemia inhibitory factor, negative regulation of mRNA splicing, via spliceosome, mRNA cis splicing, via spliceosome, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 343 335 582 1556 1727 1890 1047 732 1038 ENSG00000115884 chr2 20200797 20225433 - SDC1 protein_coding The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq, Jul 2008]. 6382 GO:0070062, GO:0043202, GO:0032991, GO:0009986, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005796, extracellular exosome, lysosomal lumen, protein-containing complex, cell surface, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi lumen, GO:0042802, GO:0008022, GO:0005515, identical protein binding, protein C-terminus binding, protein binding, GO:1903553, GO:1903543, GO:0060070, GO:0060009, GO:0055002, GO:0051592, GO:0051591, GO:0051384, GO:0050900, GO:0048627, GO:0042542, GO:0042476, GO:0042060, GO:0019221, GO:0016477, GO:0009636, GO:0006954, GO:0006027, GO:0006024, GO:0001657, GO:0001523, positive regulation of extracellular exosome assembly, positive regulation of exosomal secretion, canonical Wnt signaling pathway, Sertoli cell development, striated muscle cell development, response to calcium ion, response to cAMP, response to glucocorticoid, leukocyte migration, myoblast development, response to hydrogen peroxide, odontogenesis, wound healing, cytokine-mediated signaling pathway, cell migration, response to toxic substance, inflammatory response, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, ureteric bud development, retinoid metabolic process, 0 0 0 2 0 0 2 0 0 ENSG00000115896 chr2 197804702 198572581 + PLCL1 protein_coding 5334 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0070679, GO:0050811, GO:0004629, GO:0004435, inositol 1,4,5 trisphosphate binding, GABA receptor binding, phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:1900122, GO:0120163, GO:0048015, GO:0035556, GO:0033135, GO:0032228, GO:0007214, GO:0006629, positive regulation of receptor binding, negative regulation of cold-induced thermogenesis, phosphatidylinositol-mediated signaling, intracellular signal transduction, regulation of peptidyl-serine phosphorylation, regulation of synaptic transmission, GABAergic, gamma-aminobutyric acid signaling pathway, lipid metabolic process, 86 57 41 103 44 49 93 48 38 ENSG00000115902 chr2 64988477 65023865 + SLC1A4 protein_coding The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]. 6509 GO:0070062, GO:0045202, GO:0043025, GO:0042470, GO:0030425, GO:0016021, GO:0016020, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005882, GO:0005813, extracellular exosome, synapse, neuronal cell body, melanosome, dendrite, integral component of membrane, membrane, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, intermediate filament, centrosome, GO:0034590, GO:0015293, GO:0015195, GO:0015194, GO:0015194, GO:0015193, GO:0015186, GO:0015184, GO:0015184, GO:0015183, GO:0015180, GO:0015180, GO:0015171, GO:0005254, L-hydroxyproline transmembrane transporter activity, symporter activity, L-threonine transmembrane transporter activity, L-serine transmembrane transporter activity, L-serine transmembrane transporter activity, L-proline transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-cystine transmembrane transporter activity, L-cystine transmembrane transporter activity, L-aspartate transmembrane transporter activity, L-alanine transmembrane transporter activity, L-alanine transmembrane transporter activity, amino acid transmembrane transporter activity, chloride channel activity, GO:1904273, GO:1903812, GO:1902476, GO:0150104, GO:0140009, GO:0050890, GO:0035524, GO:0035249, GO:0034589, GO:0015826, GO:0015825, GO:0015824, GO:0015811, GO:0015811, GO:0015808, GO:0006868, GO:0006865, L-alanine import across plasma membrane, L-serine import across plasma membrane, chloride transmembrane transport, transport across blood-brain barrier, L-aspartate import across plasma membrane, cognition, proline transmembrane transport, synaptic transmission, glutamatergic, hydroxyproline transport, threonine transport, L-serine transport, proline transport, L-cystine transport, L-cystine transport, L-alanine transport, glutamine transport, amino acid transport, 47 30 67 25 9 33 15 20 8 ENSG00000115904 chr2 38981396 39124345 - SOS1 protein_coding This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]. 6654 GO:0043025, GO:0014069, GO:0005886, GO:0005829, GO:0005737, neuronal cell body, postsynaptic density, plasma membrane, cytosol, cytoplasm, GO:0046982, GO:0017124, GO:0005515, GO:0005096, GO:0005085, GO:0005085, GO:0003677, protein heterodimerization activity, SH3 domain binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, DNA binding, GO:2000973, GO:1904693, GO:0061384, GO:0061029, GO:0060021, GO:0051057, GO:0051056, GO:0050900, GO:0048514, GO:0048011, GO:0045742, GO:0043547, GO:0043065, GO:0042129, GO:0038128, GO:0038095, GO:0035264, GO:0033081, GO:0019221, GO:0008286, GO:0007411, GO:0007296, GO:0007265, GO:0007186, GO:0007173, GO:0007165, GO:0003344, GO:0003209, GO:0001942, GO:0001782, GO:0000165, regulation of pro-B cell differentiation, midbrain morphogenesis, heart trabecula morphogenesis, eyelid development in camera-type eye, roof of mouth development, positive regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, leukocyte migration, blood vessel morphogenesis, neurotrophin TRK receptor signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of GTPase activity, positive regulation of apoptotic process, regulation of T cell proliferation, ERBB2 signaling pathway, Fc-epsilon receptor signaling pathway, multicellular organism growth, regulation of T cell differentiation in thymus, cytokine-mediated signaling pathway, insulin receptor signaling pathway, axon guidance, vitellogenesis, Ras protein signal transduction, G protein-coupled receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, pericardium morphogenesis, cardiac atrium morphogenesis, hair follicle development, B cell homeostasis, MAPK cascade, 405 406 522 350 369 363 469 279 376 ENSG00000115919 chr2 142877498 143055832 + KYNU protein_coding Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]. 8942 GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, GO:0061981, GO:0042803, GO:0030429, GO:0030429, GO:0030429, GO:0030170, 3-hydroxykynureninase activity, protein homodimerization activity, kynureninase activity, kynureninase activity, kynureninase activity, pyridoxal phosphate binding, GO:0097053, GO:0043420, GO:0043420, GO:0034516, GO:0034354, GO:0034341, GO:0019805, GO:0019442, GO:0019441, GO:0009435, GO:0007568, GO:0006569, GO:0006569, L-kynurenine catabolic process, anthranilate metabolic process, anthranilate metabolic process, response to vitamin B6, 'de novo' NAD biosynthetic process from tryptophan, response to interferon-gamma, quinolinate biosynthetic process, tryptophan catabolic process to acetyl-CoA, tryptophan catabolic process to kynurenine, NAD biosynthetic process, aging, tryptophan catabolic process, tryptophan catabolic process, 160 8 18 98 20 25 117 17 32 ENSG00000115934 chr12 23181334 23251499 - AC087235.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000115935 chr2 174559572 174682916 - WIPF1 protein_coding This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 7456 GO:0031410, GO:0015629, GO:0005884, GO:0005829, GO:0001726, cytoplasmic vesicle, actin cytoskeleton, actin filament, cytosol, ruffle, GO:0017124, GO:0005522, GO:0005515, GO:0003779, SH3 domain binding, profilin binding, protein binding, actin binding, GO:0065003, GO:0051707, GO:0038096, GO:0030048, GO:0008154, protein-containing complex assembly, response to other organism, Fc-gamma receptor signaling pathway involved in phagocytosis, actin filament-based movement, actin polymerization or depolymerization, 12249 14861 15858 4013 7744 6330 5430 7103 6138 ENSG00000115942 chr2 200908973 200963680 - ORC2 protein_coding The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]. 4999 GO:0016020, GO:0005813, GO:0005664, GO:0005664, GO:0005654, GO:0005654, GO:0005634, GO:0000939, GO:0000808, GO:0000792, GO:0000781, GO:0000781, membrane, centrosome, nuclear origin of replication recognition complex, nuclear origin of replication recognition complex, nucleoplasm, nucleoplasm, nucleus, condensed chromosome inner kinetochore, origin recognition complex, heterochromatin, chromosome, telomeric region, chromosome, telomeric region, GO:0005515, GO:0003688, protein binding, DNA replication origin binding, GO:0006270, GO:0006260, GO:0000122, GO:0000082, DNA replication initiation, DNA replication, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 154 193 194 240 327 236 214 173 198 ENSG00000115944 chr2 42333546 42425088 - COX7A2L protein_coding Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]. 9167 GO:0005746, GO:0005743, GO:0005739, GO:0005730, mitochondrial respirasome, mitochondrial inner membrane, mitochondrion, nucleolus, GO:0004129, cytochrome-c oxidase activity, GO:1902600, GO:0097250, GO:0006123, GO:0002082, proton transmembrane transport, mitochondrial respirasome assembly, mitochondrial electron transport, cytochrome c to oxygen, regulation of oxidative phosphorylation, 305 249 355 140 139 176 118 122 124 ENSG00000115946 chr2 68157844 68176238 + PNO1 protein_coding 56902 GO:0005829, GO:0005730, GO:0005730, GO:0005654, GO:0005654, cytosol, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, 24 20 37 61 28 62 54 18 42 ENSG00000115947 chr2 147930397 148021604 - ORC4 protein_coding The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]. 5000 GO:0005829, GO:0005730, GO:0005664, GO:0005664, GO:0005654, GO:0005654, GO:0005634, GO:0000808, GO:0000781, GO:0000781, cytosol, nucleolus, nuclear origin of replication recognition complex, nuclear origin of replication recognition complex, nucleoplasm, nucleoplasm, nucleus, origin recognition complex, chromosome, telomeric region, chromosome, telomeric region, GO:0005524, GO:0005515, GO:0003688, GO:0003688, GO:0000166, ATP binding, protein binding, DNA replication origin binding, DNA replication origin binding, nucleotide binding, GO:0006270, GO:0006270, GO:0006260, GO:0000082, DNA replication initiation, DNA replication initiation, DNA replication, G1/S transition of mitotic cell cycle, 273 260 288 218 304 243 225 278 269 ENSG00000115956 chr2 68365173 68397453 + PLEK protein_coding 5341 GO:0032587, GO:0016020, GO:0005886, GO:0005829, GO:0005737, GO:0005576, ruffle membrane, membrane, plasma membrane, cytosol, cytoplasm, extracellular region, GO:0043325, GO:0042803, GO:0005515, GO:0005080, phosphatidylinositol-3,4-bisphosphate binding, protein homodimerization activity, protein binding, protein kinase C binding, GO:0070560, GO:0070528, GO:0070527, GO:0070527, GO:0070493, GO:0060305, GO:0050849, GO:0046488, GO:0045744, GO:0033625, GO:0032233, GO:0031532, GO:0031532, GO:0031529, GO:0030866, GO:0030845, GO:0030836, GO:0030030, GO:0010925, GO:0010920, GO:0010572, GO:0007229, GO:0006904, GO:0002576, GO:0002576, GO:0002244, protein secretion by platelet, protein kinase C signaling, platelet aggregation, platelet aggregation, thrombin-activated receptor signaling pathway, regulation of cell diameter, negative regulation of calcium-mediated signaling, phosphatidylinositol metabolic process, negative regulation of G protein-coupled receptor signaling pathway, positive regulation of integrin activation, positive regulation of actin filament bundle assembly, actin cytoskeleton reorganization, actin cytoskeleton reorganization, ruffle organization, cortical actin cytoskeleton organization, phospholipase C-inhibiting G protein-coupled receptor signaling pathway, positive regulation of actin filament depolymerization, cell projection organization, positive regulation of inositol-polyphosphate 5-phosphatase activity, negative regulation of inositol phosphate biosynthetic process, positive regulation of platelet activation, integrin-mediated signaling pathway, vesicle docking involved in exocytosis, platelet degranulation, platelet degranulation, hematopoietic progenitor cell differentiation, 24110 19784 36778 45256 37131 71086 58329 32986 57145 ENSG00000115963 chr2 150468195 150539011 - RND3 protein_coding This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]. 390 GO:0043231, GO:0042995, GO:0031410, GO:0005938, GO:0005925, GO:0005886, GO:0005856, GO:0000139, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, cell cortex, focal adhesion, plasma membrane, cytoskeleton, Golgi membrane, GO:0019901, GO:0005525, GO:0005515, GO:0003924, protein kinase binding, GTP binding, protein binding, GTPase activity, GO:0032956, GO:0030865, GO:0016477, GO:0008360, GO:0007264, GO:0007163, GO:0007155, GO:0007015, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, cell migration, regulation of cell shape, small GTPase mediated signal transduction, establishment or maintenance of cell polarity, cell adhesion, actin filament organization, 0 0 0 0 0 0 0 0 0 ENSG00000115966 chr2 175072250 175168382 - ATF2 protein_coding This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]. 1386 GO:1902562, GO:0035861, GO:0005741, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, H4 histone acetyltransferase complex, site of double-strand break, mitochondrial outer membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0046872, GO:0044877, GO:0044013, GO:0035497, GO:0035497, GO:0019901, GO:0010485, GO:0008140, GO:0005515, GO:0004402, GO:0003700, GO:0003682, GO:0001228, GO:0001102, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein-containing complex binding, H2B histone acetyltransferase activity, cAMP response element binding, cAMP response element binding, protein kinase binding, H4 histone acetyltransferase activity, cAMP response element binding protein binding, protein binding, histone acetyltransferase activity, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1902110, GO:0110024, GO:0097186, GO:0060612, GO:0051091, GO:0051090, GO:0050680, GO:0045944, GO:0045444, GO:0043969, GO:0043967, GO:0043525, GO:0032915, GO:0031573, GO:0016525, GO:0010628, GO:0009414, GO:0006974, GO:0006974, GO:0006970, GO:0006357, GO:0006357, GO:0006355, GO:0003151, GO:0000122, positive regulation of mitochondrial membrane permeability involved in apoptotic process, positive regulation of cardiac muscle myoblast proliferation, amelogenesis, adipose tissue development, positive regulation of DNA-binding transcription factor activity, regulation of DNA-binding transcription factor activity, negative regulation of epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, fat cell differentiation, histone H2B acetylation, histone H4 acetylation, positive regulation of neuron apoptotic process, positive regulation of transforming growth factor beta2 production, intra-S DNA damage checkpoint, negative regulation of angiogenesis, positive regulation of gene expression, response to water deprivation, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, response to osmotic stress, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, outflow tract morphogenesis, negative regulation of transcription by RNA polymerase II, 352 345 501 273 374 402 303 298 285 ENSG00000115970 chr2 43230836 43596046 - THADA protein_coding This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]. 63892 GO:0098554, GO:0005829, cytoplasmic side of endoplasmic reticulum membrane, cytosol, GO:0005515, protein binding, GO:1990845, GO:1901895, GO:0055088, GO:0032471, GO:0030488, adaptive thermogenesis, negative regulation of ATPase-coupled calcium transmembrane transporter activity, lipid homeostasis, negative regulation of endoplasmic reticulum calcium ion concentration, tRNA methylation, 255 225 275 238 239 237 263 199 230 ENSG00000115977 chr2 69457997 69674349 - AAK1 protein_coding This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020]. 22848 GO:0043195, GO:0031252, GO:0030136, GO:0019897, GO:0005905, GO:0005829, GO:0005737, terminal bouton, cell leading edge, clathrin-coated vesicle, extrinsic component of plasma membrane, clathrin-coated pit, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0035612, GO:0035612, GO:0005524, GO:0005515, GO:0005112, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, AP-2 adaptor complex binding, AP-2 adaptor complex binding, ATP binding, protein binding, Notch binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000369, GO:2000369, GO:2000369, GO:0061024, GO:0050821, GO:0046777, GO:0045747, GO:0045747, GO:0032880, GO:0006897, GO:0006468, GO:0006468, regulation of clathrin-dependent endocytosis, regulation of clathrin-dependent endocytosis, regulation of clathrin-dependent endocytosis, membrane organization, protein stabilization, protein autophosphorylation, positive regulation of Notch signaling pathway, positive regulation of Notch signaling pathway, regulation of protein localization, endocytosis, protein phosphorylation, protein phosphorylation, 623 709 1073 767 730 996 857 488 709 ENSG00000115993 chr2 201377207 201451579 - TRAK2 protein_coding 66008 GO:1904115, GO:0044295, GO:0043025, GO:0032839, GO:0031410, GO:0030425, GO:0005886, GO:0005769, GO:0005739, GO:0005739, GO:0005737, GO:0005634, axon cytoplasm, axonal growth cone, neuronal cell body, dendrite cytoplasm, cytoplasmic vesicle, dendrite, plasma membrane, early endosome, mitochondrion, mitochondrion, cytoplasm, nucleus, GO:0050811, GO:0050811, GO:0030911, GO:0019899, GO:0019894, GO:0017022, GO:0005515, GO:0005102, GO:0005102, GABA receptor binding, GABA receptor binding, TPR domain binding, enzyme binding, kinesin binding, myosin binding, protein binding, signaling receptor binding, signaling receptor binding, GO:0098972, GO:0098957, GO:0050771, GO:0048813, GO:0048311, GO:0047496, GO:0022008, GO:0008333, GO:0006605, GO:0006493, GO:0006357, anterograde dendritic transport of mitochondrion, anterograde axonal transport of mitochondrion, negative regulation of axonogenesis, dendrite morphogenesis, mitochondrion distribution, vesicle transport along microtubule, neurogenesis, endosome to lysosome transport, protein targeting, protein O-linked glycosylation, regulation of transcription by RNA polymerase II, 219 223 222 221 261 264 225 174 177 ENSG00000115998 chr2 70149880 70248615 - C2orf42 protein_coding 54980 GO:0031965, GO:0005654, GO:0005634, nuclear membrane, nucleoplasm, nucleus, GO:0005515, protein binding, 30 50 40 42 68 48 23 45 38 ENSG00000116001 chr2 70209444 70248660 - TIA1 protein_coding The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene. [provided by RefSeq, May 2017]. 7072 GO:1990904, GO:0097165, GO:0010494, GO:0010494, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, nuclear stress granule, cytoplasmic stress granule, cytoplasmic stress granule, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0035925, GO:0008143, GO:0005515, GO:0003723, mRNA 3'-UTR AU-rich region binding, poly(A) binding, protein binding, RNA binding, GO:1904037, GO:1903608, GO:0048024, GO:0017148, GO:0008543, GO:0006915, GO:0001818, positive regulation of epithelial cell apoptotic process, protein localization to cytoplasmic stress granule, regulation of mRNA splicing, via spliceosome, negative regulation of translation, fibroblast growth factor receptor signaling pathway, apoptotic process, negative regulation of cytokine production, 335 315 505 361 413 475 423 271 354 ENSG00000116005 chr2 70257386 70281191 + PCYOX1 protein_coding Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008]. 51449 GO:0070062, GO:0034361, GO:0005886, GO:0005764, extracellular exosome, very-low-density lipoprotein particle, plasma membrane, lysosome, GO:0008555, GO:0005515, GO:0001735, GO:0001735, ATPase-coupled chloride transmembrane transporter activity, protein binding, prenylcysteine oxidase activity, prenylcysteine oxidase activity, GO:1902476, GO:0055114, GO:0030328, GO:0030327, GO:0030327, GO:0030327, chloride transmembrane transport, oxidation-reduction process, prenylcysteine catabolic process, prenylated protein catabolic process, prenylated protein catabolic process, prenylated protein catabolic process, 46 39 57 36 37 63 42 40 32 ENSG00000116014 chr19 917287 921015 + KISS1R protein_coding The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]. 84634 GO:0043231, GO:0016021, GO:0009986, GO:0005929, GO:0005887, GO:0005886, GO:0005886, intracellular membrane-bounded organelle, integral component of membrane, cell surface, cilium, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0008528, GO:0008188, GO:0005515, G protein-coupled peptide receptor activity, neuropeptide receptor activity, protein binding, GO:0007218, GO:0007186, GO:0007186, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 21 14 15 7 12 21 5 14 3 ENSG00000116016 chr2 46293667 46386703 + EPAS1 protein_coding This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]. 2034 GO:0016607, GO:0005829, GO:0005667, GO:0005667, GO:0005654, GO:0000785, GO:0000785, nuclear speck, cytosol, transcription regulator complex, transcription regulator complex, nucleoplasm, chromatin, chromatin, GO:0046982, GO:0046982, GO:0043565, GO:0035035, GO:0008134, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein heterodimerization activity, protein heterodimerization activity, sequence-specific DNA binding, histone acetyltransferase binding, transcription factor binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000434, GO:0120162, GO:0071456, GO:0071456, GO:0061418, GO:0055072, GO:0048625, GO:0048469, GO:0045944, GO:0045944, GO:0043687, GO:0043619, GO:0043129, GO:0042415, GO:0030324, GO:0030218, GO:0016567, GO:0007601, GO:0007165, GO:0007005, GO:0006357, GO:0002027, GO:0001974, GO:0001892, GO:0001666, GO:0001525, regulation of protein neddylation, positive regulation of cold-induced thermogenesis, cellular response to hypoxia, cellular response to hypoxia, regulation of transcription from RNA polymerase II promoter in response to hypoxia, iron ion homeostasis, myoblast fate commitment, cell maturation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, post-translational protein modification, regulation of transcription from RNA polymerase II promoter in response to oxidative stress, surfactant homeostasis, norepinephrine metabolic process, lung development, erythrocyte differentiation, protein ubiquitination, visual perception, signal transduction, mitochondrion organization, regulation of transcription by RNA polymerase II, regulation of heart rate, blood vessel remodeling, embryonic placenta development, response to hypoxia, angiogenesis, 84 86 127 40 52 41 31 35 24 ENSG00000116017 chr19 925781 975934 + ARID3A protein_coding This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]. 1820 GO:0045121, GO:0005829, GO:0005654, GO:0005654, GO:0005634, membrane raft, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0005515, GO:0003682, GO:0003677, identical protein binding, protein binding, chromatin binding, DNA binding, GO:0045944, GO:0006977, GO:0006357, positive regulation of transcription by RNA polymerase II, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription by RNA polymerase II, 1308 1226 1902 635 925 847 724 772 820 ENSG00000116030 chr2 202206180 202238608 - SUMO1 protein_coding This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]. 7341 GO:0097165, GO:0045202, GO:0031965, GO:0030425, GO:0016607, GO:0016605, GO:0016605, GO:0016605, GO:0016604, GO:0008076, GO:0005886, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005643, GO:0005635, GO:0005634, GO:0005634, GO:0005634, GO:0001741, GO:0001650, GO:0000792, nuclear stress granule, synapse, nuclear membrane, dendrite, nuclear speck, PML body, PML body, PML body, nuclear body, voltage-gated potassium channel complex, plasma membrane, cytosol, nucleolus, nucleoplasm, nucleoplasm, nuclear pore, nuclear envelope, nucleus, nucleus, nucleus, XY body, fibrillar center, heterochromatin, GO:1990381, GO:0044389, GO:0044388, GO:0031625, GO:0031386, GO:0019899, GO:0015459, GO:0008134, GO:0005515, GO:0003723, ubiquitin-specific protease binding, ubiquitin-like protein ligase binding, small protein activating enzyme binding, ubiquitin protein ligase binding, protein tag, enzyme binding, potassium channel regulator activity, transcription factor binding, protein binding, RNA binding, GO:1902260, GO:1901896, GO:0090204, GO:0086004, GO:0071276, GO:0060334, GO:0060021, GO:0050821, GO:0045892, GO:0045892, GO:0045759, GO:0043433, GO:0043392, GO:0043392, GO:0034605, GO:0032880, GO:0032436, GO:0031334, GO:0030578, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016032, GO:0006303, GO:0006281, GO:0000122, negative regulation of delayed rectifier potassium channel activity, positive regulation of ATPase-coupled calcium transmembrane transporter activity, protein localization to nuclear pore, regulation of cardiac muscle cell contraction, cellular response to cadmium ion, regulation of interferon-gamma-mediated signaling pathway, roof of mouth development, protein stabilization, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of action potential, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA binding, negative regulation of DNA binding, cellular response to heat, regulation of protein localization, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein-containing complex assembly, PML body organization, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, viral process, double-strand break repair via nonhomologous end joining, DNA repair, negative regulation of transcription by RNA polymerase II, 1108 833 1235 330 538 511 463 511 416 ENSG00000116031 chr2 70830214 70835822 - CD207 protein_coding The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]. 50489 GO:0031901, GO:0030669, GO:0030139, GO:0016021, GO:0005886, early endosome membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle, integral component of membrane, plasma membrane, GO:0030246, GO:0005537, GO:0005515, carbohydrate binding, mannose binding, protein binding, GO:0051607, GO:0006898, GO:0002479, defense response to virus, receptor-mediated endocytosis, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 0 0 2 3 0 0 0 0 0 ENSG00000116032 chr19 1000419 1009732 + GRIN3B protein_coding The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]. 116444 GO:0045211, GO:0043025, GO:0017146, GO:0017146, GO:0005886, postsynaptic membrane, neuronal cell body, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, plasma membrane, GO:0042165, GO:0038023, GO:0030594, GO:0016594, GO:0015276, GO:0005262, GO:0005261, GO:0004972, neurotransmitter binding, signaling receptor activity, neurotransmitter receptor activity, glycine binding, ligand-gated ion channel activity, calcium channel activity, cation channel activity, NMDA glutamate receptor activity, GO:0070588, GO:0051924, GO:0051205, GO:0035235, GO:0035235, calcium ion transmembrane transport, regulation of calcium ion transport, protein insertion into membrane, ionotropic glutamate receptor signaling pathway, ionotropic glutamate receptor signaling pathway, 18 26 39 26 19 21 22 22 11 ENSG00000116035 chr2 70900590 70965373 + VAX2 protein_coding This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]. 25806 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:1990837, GO:0031490, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, chromatin DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060041, GO:0048048, GO:0030900, GO:0030182, GO:0016055, GO:0009950, GO:0007601, GO:0007417, GO:0007409, GO:0007398, GO:0006357, GO:0000122, retina development in camera-type eye, embryonic eye morphogenesis, forebrain development, neuron differentiation, Wnt signaling pathway, dorsal/ventral axis specification, visual perception, central nervous system development, axonogenesis, ectoderm development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000116039 chr2 70935868 70965431 + ATP6V1B1 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]. 525 GO:0098850, GO:0070062, GO:0033180, GO:0016471, GO:0016328, GO:0016324, GO:0016323, GO:0005902, GO:0005829, GO:0005737, extrinsic component of synaptic vesicle membrane, extracellular exosome, proton-transporting V-type ATPase, V1 domain, vacuolar proton-transporting V-type ATPase complex, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, microvillus, cytosol, cytoplasm, GO:0044877, GO:0016787, GO:0015078, GO:0005524, GO:0005515, protein-containing complex binding, hydrolase activity, proton transmembrane transporter activity, ATP binding, protein binding, GO:1902600, GO:0090383, GO:0055075, GO:0055074, GO:0055064, GO:0046034, GO:0045851, GO:0042472, GO:0042048, GO:0035812, GO:0034220, GO:0033572, GO:0030534, GO:0016241, GO:0010468, GO:0008286, GO:0007605, GO:0007588, GO:0006885, GO:0006693, GO:0003096, GO:0003091, GO:0001503, proton transmembrane transport, phagosome acidification, potassium ion homeostasis, calcium ion homeostasis, chloride ion homeostasis, ATP metabolic process, pH reduction, inner ear morphogenesis, olfactory behavior, renal sodium excretion, ion transmembrane transport, transferrin transport, adult behavior, regulation of macroautophagy, regulation of gene expression, insulin receptor signaling pathway, sensory perception of sound, excretion, regulation of pH, prostaglandin metabolic process, renal sodium ion transport, renal water homeostasis, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000116044 chr2 177227595 177392697 - NFE2L2 protein_coding This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]. 4780 GO:0032993, GO:0005886, GO:0005829, GO:0005813, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, protein-DNA complex, plasma membrane, cytosol, centrosome, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0043565, GO:0019904, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001221, GO:0001102, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, GO:0000976, sequence-specific DNA binding, protein domain specific binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, transcription cofactor binding, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000379, GO:2000352, GO:2000121, GO:1904753, GO:1904385, GO:1903788, GO:1903206, GO:1903071, GO:1902176, GO:1902037, GO:0071499, GO:0071498, GO:0071356, GO:0071280, GO:0070301, GO:0061419, GO:0046326, GO:0046223, GO:0045995, GO:0045944, GO:0045944, GO:0045944, GO:0045766, GO:0045454, GO:0043536, GO:0043161, GO:0042149, GO:0036499, GO:0036499, GO:0036091, GO:0036003, GO:0035690, GO:0034599, GO:0034599, GO:0034599, GO:0034599, GO:0030968, GO:0030194, GO:0016567, GO:0016032, GO:0010976, GO:0010667, GO:0010628, GO:0010628, GO:0010499, GO:0007568, GO:0006954, GO:0006357, positive regulation of reactive oxygen species metabolic process, negative regulation of endothelial cell apoptotic process, regulation of removal of superoxide radicals, negative regulation of vascular associated smooth muscle cell migration, cellular response to angiotensin, positive regulation of glutathione biosynthetic process, negative regulation of hydrogen peroxide-induced cell death, positive regulation of ER-associated ubiquitin-dependent protein catabolic process, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, negative regulation of hematopoietic stem cell differentiation, cellular response to laminar fluid shear stress, cellular response to fluid shear stress, cellular response to tumor necrosis factor, cellular response to copper ion, cellular response to hydrogen peroxide, positive regulation of transcription from RNA polymerase II promoter in response to hypoxia, positive regulation of glucose import, aflatoxin catabolic process, regulation of embryonic development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, cell redox homeostasis, positive regulation of blood vessel endothelial cell migration, proteasome-mediated ubiquitin-dependent protein catabolic process, cellular response to glucose starvation, PERK-mediated unfolded protein response, PERK-mediated unfolded protein response, positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress, positive regulation of transcription from RNA polymerase II promoter in response to stress, cellular response to drug, cellular response to oxidative stress, cellular response to oxidative stress, cellular response to oxidative stress, cellular response to oxidative stress, endoplasmic reticulum unfolded protein response, positive regulation of blood coagulation, protein ubiquitination, viral process, positive regulation of neuron projection development, negative regulation of cardiac muscle cell apoptotic process, positive regulation of gene expression, positive regulation of gene expression, proteasomal ubiquitin-independent protein catabolic process, aging, inflammatory response, regulation of transcription by RNA polymerase II, 4301 4709 5567 5620 5547 5720 5119 3907 4428 ENSG00000116062 chr2 47695530 47810101 + MSH6 protein_coding This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]. 2956 GO:0043231, GO:0032301, GO:0032301, GO:0032300, GO:0005829, GO:0005794, GO:0005654, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, MutSalpha complex, MutSalpha complex, mismatch repair complex, cytosol, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0043531, GO:0042803, GO:0035064, GO:0032405, GO:0032405, GO:0032357, GO:0032357, GO:0032143, GO:0032143, GO:0032142, GO:0032137, GO:0030983, GO:0030983, GO:0030983, GO:0019899, GO:0016887, GO:0008094, GO:0005524, GO:0005515, GO:0005515, GO:0003690, GO:0003682, GO:0000400, GO:0000287, ADP binding, protein homodimerization activity, methylated histone binding, MutLalpha complex binding, MutLalpha complex binding, oxidized purine DNA binding, oxidized purine DNA binding, single thymine insertion binding, single thymine insertion binding, single guanine insertion binding, guanine/thymine mispair binding, mismatched DNA binding, mismatched DNA binding, mismatched DNA binding, enzyme binding, ATPase activity, DNA-dependent ATPase activity, ATP binding, protein binding, protein binding, double-stranded DNA binding, chromatin binding, four-way junction DNA binding, magnesium ion binding, GO:0097193, GO:0051096, GO:0045910, GO:0045910, GO:0045190, GO:0043570, GO:0036297, GO:0016447, GO:0016447, GO:0016446, GO:0016446, GO:0016032, GO:0009411, GO:0008630, GO:0008630, GO:0008340, GO:0006298, GO:0006298, GO:0006298, GO:0006298, GO:0006298, GO:0006290, GO:0006281, GO:0000710, GO:0000710, intrinsic apoptotic signaling pathway, positive regulation of helicase activity, negative regulation of DNA recombination, negative regulation of DNA recombination, isotype switching, maintenance of DNA repeat elements, interstrand cross-link repair, somatic recombination of immunoglobulin gene segments, somatic recombination of immunoglobulin gene segments, somatic hypermutation of immunoglobulin genes, somatic hypermutation of immunoglobulin genes, viral process, response to UV, intrinsic apoptotic signaling pathway in response to DNA damage, intrinsic apoptotic signaling pathway in response to DNA damage, determination of adult lifespan, mismatch repair, mismatch repair, mismatch repair, mismatch repair, mismatch repair, pyrimidine dimer repair, DNA repair, meiotic mismatch repair, meiotic mismatch repair, 705 661 877 723 780 813 633 523 638 ENSG00000116095 chr2 178480468 178516462 + PLEKHA3 protein_coding 65977 GO:0016020, GO:0005829, GO:0005794, GO:0000139, membrane, cytosol, Golgi apparatus, Golgi membrane, GO:1902388, GO:1902387, GO:0070273, GO:0042802, GO:0005515, ceramide 1-phosphate transfer activity, ceramide 1-phosphate binding, phosphatidylinositol-4-phosphate binding, identical protein binding, protein binding, GO:1902389, GO:0120009, GO:0035627, GO:0008150, GO:0006661, ceramide 1-phosphate transport, intermembrane lipid transfer, ceramide transport, biological_process, phosphatidylinositol biosynthetic process, 203 160 212 191 208 174 157 156 170 ENSG00000116096 chr2 72887360 72892158 + SPR protein_coding This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]. 6697 GO:0070062, GO:0005829, GO:0005829, GO:0005654, extracellular exosome, cytosol, cytosol, nucleoplasm, GO:0050661, GO:0004757, GO:0004757, GO:0004033, NADP binding, sepiapterin reductase activity, sepiapterin reductase activity, aldo-keto reductase (NADP) activity, GO:0055114, GO:0050999, GO:0006809, GO:0006729, GO:0006729, oxidation-reduction process, regulation of nitric-oxide synthase activity, nitric oxide biosynthetic process, tetrahydrobiopterin biosynthetic process, tetrahydrobiopterin biosynthetic process, 0 0 1 0 0 5 0 1 0 ENSG00000116106 chr2 221418027 221574202 - EPHA4 protein_coding This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]. 2043 GO:0099056, GO:0098978, GO:0098839, GO:0098685, GO:0044295, GO:0043679, GO:0043235, GO:0043204, GO:0043198, GO:0043197, GO:0043197, GO:0043005, GO:0031901, GO:0031594, GO:0030425, GO:0030424, GO:0030175, GO:0009986, GO:0005912, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005741, GO:0005737, integral component of presynaptic membrane, glutamatergic synapse, postsynaptic density membrane, Schaffer collateral - CA1 synapse, axonal growth cone, axon terminus, receptor complex, perikaryon, dendritic shaft, dendritic spine, dendritic spine, neuron projection, early endosome membrane, neuromuscular junction, dendrite, axon, filopodium, cell surface, adherens junction, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, mitochondrial outer membrane, cytoplasm, GO:1990782, GO:0097161, GO:0046875, GO:0042802, GO:0042731, GO:0016301, GO:0005524, GO:0005515, GO:0005005, GO:0005005, GO:0005004, GO:0004714, GO:0004672, GO:0001540, protein tyrosine kinase binding, DH domain binding, ephrin receptor binding, identical protein binding, PH domain binding, kinase activity, ATP binding, protein binding, transmembrane-ephrin receptor activity, transmembrane-ephrin receptor activity, GPI-linked ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, protein kinase activity, amyloid-beta binding, GO:2001108, GO:1905244, GO:1904646, GO:1903051, GO:1902961, GO:1902004, GO:1900272, GO:0106030, GO:0097485, GO:0097156, GO:0097155, GO:0090102, GO:0072178, GO:0061098, GO:0061001, GO:0050821, GO:0050775, GO:0050770, GO:0048710, GO:0048681, GO:0048013, GO:0048013, GO:0046777, GO:0043507, GO:0043087, GO:0034332, GO:0033674, GO:0021957, GO:0018108, GO:0010977, GO:0008347, GO:0008045, GO:0007628, GO:0007411, GO:0007275, GO:0007169, GO:0007155, positive regulation of Rho guanyl-nucleotide exchange factor activity, regulation of modification of synaptic structure, cellular response to amyloid-beta, negative regulation of proteolysis involved in cellular protein catabolic process, positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, positive regulation of amyloid-beta formation, negative regulation of long-term synaptic potentiation, neuron projection fasciculation, neuron projection guidance, fasciculation of motor neuron axon, fasciculation of sensory neuron axon, cochlea development, nephric duct morphogenesis, positive regulation of protein tyrosine kinase activity, regulation of dendritic spine morphogenesis, protein stabilization, positive regulation of dendrite morphogenesis, regulation of axonogenesis, regulation of astrocyte differentiation, negative regulation of axon regeneration, ephrin receptor signaling pathway, ephrin receptor signaling pathway, protein autophosphorylation, positive regulation of JUN kinase activity, regulation of GTPase activity, adherens junction organization, positive regulation of kinase activity, corticospinal tract morphogenesis, peptidyl-tyrosine phosphorylation, negative regulation of neuron projection development, glial cell migration, motor neuron axon guidance, adult walking behavior, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, 35 29 52 93 11 63 68 15 62 ENSG00000116117 chr2 204545793 205620162 + PARD3B protein_coding 117583 GO:0043296, GO:0032991, GO:0030054, GO:0016324, GO:0012505, GO:0005938, GO:0005923, GO:0005912, apical junction complex, protein-containing complex, cell junction, apical plasma membrane, endomembrane system, cell cortex, bicellular tight junction, adherens junction, GO:0035091, GO:0005515, phosphatidylinositol binding, protein binding, GO:0051660, GO:0051301, GO:0045197, GO:0030010, GO:0008104, GO:0007155, GO:0007049, GO:0000226, establishment of centrosome localization, cell division, establishment or maintenance of epithelial cell apical/basal polarity, establishment of cell polarity, protein localization, cell adhesion, cell cycle, microtubule cytoskeleton organization, 0 0 0 0 0 0 1 0 0 ENSG00000116120 chr2 222570536 222656337 - FARSB protein_coding This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 10056 GO:0016020, GO:0009328, GO:0009328, GO:0005829, GO:0005737, membrane, phenylalanine-tRNA ligase complex, phenylalanine-tRNA ligase complex, cytosol, cytoplasm, GO:0005524, GO:0005515, GO:0004826, GO:0003723, GO:0000287, ATP binding, protein binding, phenylalanine-tRNA ligase activity, RNA binding, magnesium ion binding, GO:0051290, GO:0006432, GO:0006432, GO:0006418, GO:0006412, protein heterotetramerization, phenylalanyl-tRNA aminoacylation, phenylalanyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, translation, 15 10 32 57 13 59 27 27 14 ENSG00000116127 chr2 73385758 73610793 + ALMS1 protein_coding This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]. 7840 GO:0005929, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0000922, cilium, cytosol, cytosol, centriole, centrosome, centrosome, spindle pole, GO:0008017, GO:0005515, GO:0003674, microtubule binding, protein binding, molecular_function, GO:0120162, GO:0097711, GO:0051492, GO:0046599, GO:0016197, GO:0010389, GO:0000086, positive regulation of cold-induced thermogenesis, ciliary basal body-plasma membrane docking, regulation of stress fiber assembly, regulation of centriole replication, endosomal transport, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 49 46 123 113 30 130 111 51 85 ENSG00000116128 chr1 147541412 147626216 + BCL9 protein_coding BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]. 607 GO:1990907, GO:1990907, GO:1990907, GO:0005801, GO:0005654, beta-catenin-TCF complex, beta-catenin-TCF complex, beta-catenin-TCF complex, cis-Golgi network, nucleoplasm, GO:0008013, GO:0005515, GO:0003713, beta-catenin binding, protein binding, transcription coactivator activity, GO:1904837, GO:0060070, GO:0045944, GO:0035914, GO:0035019, GO:0017015, GO:0014908, beta-catenin-TCF complex assembly, canonical Wnt signaling pathway, positive regulation of transcription by RNA polymerase II, skeletal muscle cell differentiation, somatic stem cell population maintenance, regulation of transforming growth factor beta receptor signaling pathway, myotube differentiation involved in skeletal muscle regeneration, 154 120 256 122 80 209 139 106 84 ENSG00000116132 chr1 170662728 170739419 + PRRX1 protein_coding The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]. 5396 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:0071837, GO:0005515, GO:0001228, GO:0001227, GO:0001102, GO:0000981, GO:0000981, GO:0000978, GO:0000978, HMG box domain binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0100026, GO:0097150, GO:0070570, GO:0060021, GO:0051216, GO:0048844, GO:0048701, GO:0048664, GO:0045944, GO:0045880, GO:0042474, GO:0042472, GO:0030326, GO:0006357, GO:0002053, GO:0000122, positive regulation of DNA repair by transcription from RNA polymerase II promoter, neuronal stem cell population maintenance, regulation of neuron projection regeneration, roof of mouth development, cartilage development, artery morphogenesis, embryonic cranial skeleton morphogenesis, neuron fate determination, positive regulation of transcription by RNA polymerase II, positive regulation of smoothened signaling pathway, middle ear morphogenesis, inner ear morphogenesis, embryonic limb morphogenesis, regulation of transcription by RNA polymerase II, positive regulation of mesenchymal cell proliferation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000116133 chr1 54849627 54887271 - DHCR24 protein_coding This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]. 1718 GO:0016021, GO:0016020, GO:0016020, GO:0005856, GO:0005829, GO:0005789, GO:0005789, GO:0005783, GO:0005737, GO:0005634, GO:0000139, integral component of membrane, membrane, membrane, cytoskeleton, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleus, Golgi membrane, GO:0071949, GO:0050614, GO:0042605, GO:0019899, GO:0016628, GO:0016628, GO:0005515, GO:0000246, GO:0000246, FAD binding, delta24-sterol reductase activity, peptide antigen binding, enzyme binding, oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor, oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor, protein binding, delta24(24-1) sterol reductase activity, delta24(24-1) sterol reductase activity, GO:1901214, GO:0061024, GO:0055114, GO:0043588, GO:0043154, GO:0043066, GO:0042987, GO:0033490, GO:0033489, GO:0031639, GO:0030539, GO:0009888, GO:0009725, GO:0008285, GO:0008202, GO:0008104, GO:0007265, GO:0007050, GO:0006979, GO:0006915, GO:0006695, GO:0006695, regulation of neuron death, membrane organization, oxidation-reduction process, skin development, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, amyloid precursor protein catabolic process, cholesterol biosynthetic process via lathosterol, cholesterol biosynthetic process via desmosterol, plasminogen activation, male genitalia development, tissue development, response to hormone, negative regulation of cell population proliferation, steroid metabolic process, protein localization, Ras protein signal transduction, cell cycle arrest, response to oxidative stress, apoptotic process, cholesterol biosynthetic process, cholesterol biosynthetic process, 5 33 7 2 32 7 12 32 0 ENSG00000116138 chr1 15526813 15592379 + DNAJC16 protein_coding 23341 GO:0016021, integral component of membrane, 61 48 82 102 95 67 54 61 103 ENSG00000116141 chr1 220528183 220664461 + MARK1 protein_coding 4139 GO:0030425, GO:0015630, GO:0005886, GO:0005856, GO:0005737, GO:0005737, GO:0005737, dendrite, microtubule cytoskeleton, plasma membrane, cytoskeleton, cytoplasm, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0070300, GO:0050321, GO:0050321, GO:0050321, GO:0050321, GO:0048156, GO:0005546, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0001786, GO:0000287, protein threonine kinase activity, protein serine kinase activity, phosphatidic acid binding, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, phosphatidylinositol-4,5-bisphosphate binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, phosphatidylserine binding, magnesium ion binding, GO:0051654, GO:0050773, GO:0035556, GO:0035556, GO:0018105, GO:0016055, GO:0010975, GO:0007010, GO:0006468, GO:0006468, GO:0001764, GO:0000226, GO:0000226, establishment of mitochondrion localization, regulation of dendrite development, intracellular signal transduction, intracellular signal transduction, peptidyl-serine phosphorylation, Wnt signaling pathway, regulation of neuron projection development, cytoskeleton organization, protein phosphorylation, protein phosphorylation, neuron migration, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000116147 chr1 175315194 175743770 - TNR protein_coding This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]. 7143 GO:0098978, GO:0098685, GO:0072534, GO:0062023, GO:0045121, GO:0009986, GO:0005615, GO:0005576, glutamatergic synapse, Schaffer collateral - CA1 synapse, perineuronal net, collagen-containing extracellular matrix, membrane raft, cell surface, extracellular space, extracellular region, GO:0005102, signaling receptor binding, GO:0060291, GO:0051971, GO:0051968, GO:0050885, GO:0050808, GO:0050805, GO:0048692, GO:0035641, GO:0030198, GO:0022408, GO:0022029, GO:0008306, GO:0007411, GO:0007158, GO:0007155, long-term synaptic potentiation, positive regulation of transmission of nerve impulse, positive regulation of synaptic transmission, glutamatergic, neuromuscular process controlling balance, synapse organization, negative regulation of synaptic transmission, negative regulation of axon extension involved in regeneration, locomotory exploration behavior, extracellular matrix organization, negative regulation of cell-cell adhesion, telencephalon cell migration, associative learning, axon guidance, neuron cell-cell adhesion, cell adhesion, 2 0 1 0 1 10 0 0 0 ENSG00000116151 chr1 2321253 2391707 - MORN1 protein_coding 79906 39 46 50 31 48 34 14 42 26 ENSG00000116157 chr1 52602372 52609051 + GPX7 protein_coding 2882 GO:0005788, GO:0005783, GO:0005576, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular region, GO:0005515, GO:0004602, GO:0004601, GO:0004601, GO:0004096, protein binding, glutathione peroxidase activity, peroxidase activity, peroxidase activity, catalase activity, GO:0098869, GO:0055114, GO:0034599, cellular oxidant detoxification, oxidation-reduction process, cellular response to oxidative stress, 5 3 16 22 7 12 10 4 10 ENSG00000116161 chr1 174999163 175011715 + CACYBP protein_coding The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 27101 GO:0070062, GO:0044297, GO:0043005, GO:0030877, GO:0019005, GO:0005829, GO:0005654, GO:0005641, GO:0005634, extracellular exosome, cell body, neuron projection, beta-catenin destruction complex, SCF ubiquitin ligase complex, cytosol, nucleoplasm, nuclear envelope lumen, nucleus, GO:0044548, GO:0042803, GO:0031625, GO:0019904, GO:0015631, GO:0005515, S100 protein binding, protein homodimerization activity, ubiquitin protein ligase binding, protein domain specific binding, tubulin binding, protein binding, GO:1990830, GO:0071277, GO:0060548, GO:0060416, GO:0055007, GO:0045740, GO:0007568, GO:0007507, cellular response to leukemia inhibitory factor, cellular response to calcium ion, negative regulation of cell death, response to growth hormone, cardiac muscle cell differentiation, positive regulation of DNA replication, aging, heart development, 184 208 318 347 416 500 268 233 179 ENSG00000116171 chr1 52927229 53051703 + SCP2 protein_coding This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]. 6342 GO:0043231, GO:0032991, GO:0016020, GO:0005829, GO:0005782, GO:0005777, GO:0005739, GO:0005654, intracellular membrane-bounded organelle, protein-containing complex, membrane, cytosol, peroxisomal matrix, peroxisome, mitochondrion, nucleoplasm, GO:0070538, GO:0050633, GO:0050632, GO:0050632, GO:0036042, GO:0033814, GO:0032934, GO:0015485, GO:0005515, GO:0005102, GO:0003988, GO:0000062, oleic acid binding, acetyl-CoA C-myristoyltransferase activity, propionyl-CoA C2-trimethyltridecanoyltransferase activity, propionyl-CoA C2-trimethyltridecanoyltransferase activity, long-chain fatty acyl-CoA binding, propanoyl-CoA C-acyltransferase activity, sterol binding, cholesterol binding, protein binding, signaling receptor binding, acetyl-CoA C-acyltransferase activity, fatty-acyl-CoA binding, GO:1901373, GO:0036109, GO:0033540, GO:0032385, GO:0032385, GO:0015914, GO:0008206, GO:0006699, GO:0006694, GO:0006635, GO:0006625, lipid hydroperoxide transport, alpha-linolenic acid metabolic process, fatty acid beta-oxidation using acyl-CoA oxidase, positive regulation of intracellular cholesterol transport, positive regulation of intracellular cholesterol transport, phospholipid transport, bile acid metabolic process, bile acid biosynthetic process, steroid biosynthetic process, fatty acid beta-oxidation, protein targeting to peroxisome, 84 114 131 126 107 229 105 137 170 ENSG00000116176 chr16 1221651 1225257 - TPSG1 protein_coding Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]. 25823 GO:0005887, GO:0005615, integral component of plasma membrane, extracellular space, GO:0008236, GO:0005515, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000116183 chr1 176463171 176845605 + PAPPA2 protein_coding This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]. 60676 GO:0070062, GO:0016324, GO:0005829, GO:0005576, extracellular exosome, apical plasma membrane, cytosol, extracellular region, GO:0008270, GO:0008237, zinc ion binding, metallopeptidase activity, GO:0060349, GO:0044267, GO:0009651, GO:0006508, GO:0001558, bone morphogenesis, cellular protein metabolic process, response to salt stress, proteolysis, regulation of cell growth, 2 2 0 0 0 0 3 6 1 ENSG00000116191 chr1 178725147 178921841 + RALGPS2 protein_coding 55103 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0032485, GO:0007264, regulation of Ral protein signal transduction, small GTPase mediated signal transduction, 459 411 668 269 366 402 309 310 262 ENSG00000116194 chr1 178849705 178871052 - ANGPTL1 protein_coding Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]. 9068 GO:0070062, GO:0062023, GO:0005615, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, extracellular space, extracellular space, GO:0005102, signaling receptor binding, GO:0007169, GO:0001525, transmembrane receptor protein tyrosine kinase signaling pathway, angiogenesis, 3 8 9 11 10 4 18 6 5 ENSG00000116198 chr1 3812081 3857214 - CEP104 protein_coding This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]. 9731 GO:0005929, GO:0005814, GO:0005737, GO:0000922, cilium, centriole, cytoplasm, spindle pole, GO:0005515, protein binding, 224 229 101 157 241 111 181 171 143 ENSG00000116199 chr1 179025804 179076562 + FAM20B protein_coding 9917 GO:0016021, GO:0005794, GO:0005654, GO:0000139, integral component of membrane, Golgi apparatus, nucleoplasm, Golgi membrane, GO:0046872, GO:0016773, GO:0016773, GO:0016301, GO:0005524, GO:0005515, metal ion binding, phosphotransferase activity, alcohol group as acceptor, phosphotransferase activity, alcohol group as acceptor, kinase activity, ATP binding, protein binding, GO:0030166, GO:0006468, proteoglycan biosynthetic process, protein phosphorylation, 97 69 119 87 62 90 93 54 85 ENSG00000116205 chr1 54053584 54112519 + TCEANC2 protein_coding 127428 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006351, transcription, DNA-templated, 173 132 143 149 235 189 184 184 162 ENSG00000116209 chr1 54026681 54053504 - TMEM59 protein_coding This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 9528 GO:0070062, GO:0031902, GO:0016021, GO:0005886, GO:0005797, GO:0005770, GO:0005770, GO:0005765, GO:0005764, GO:0005764, GO:0000139, GO:0000138, GO:0000137, extracellular exosome, late endosome membrane, integral component of membrane, plasma membrane, Golgi medial cisterna, late endosome, late endosome, lysosomal membrane, lysosome, lysosome, Golgi membrane, Golgi trans cisterna, Golgi cis cisterna, GO:0005515, GO:0004175, protein binding, endopeptidase activity, GO:1903077, GO:0090285, GO:0010955, GO:0010508, GO:0010508, GO:0006914, GO:0006508, negative regulation of protein localization to plasma membrane, negative regulation of protein glycosylation in Golgi, negative regulation of protein processing, positive regulation of autophagy, positive regulation of autophagy, autophagy, proteolysis, 2185 1949 2723 615 1264 801 710 1209 703 ENSG00000116212 chr1 53946077 53968168 + LRRC42 protein_coding 115353 109 130 123 56 52 40 75 38 42 ENSG00000116213 chr1 3630767 3652761 - WRAP73 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009]. 49856 GO:1990811, GO:0072686, GO:0036064, GO:0005815, GO:0005814, GO:0005813, GO:0005737, MWP complex, mitotic spindle, ciliary basal body, microtubule organizing center, centriole, centrosome, cytoplasm, GO:0005515, protein binding, GO:1902857, GO:1902440, GO:0090307, GO:0030030, GO:0000070, positive regulation of non-motile cilium assembly, protein localization to mitotic spindle pole body, mitotic spindle assembly, cell projection organization, mitotic sister chromatid segregation, 175 138 149 126 201 198 132 170 139 ENSG00000116218 chr1 179550539 179575952 - NPHS2 protein_coding This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 7827 GO:0070062, GO:0045121, GO:0036057, GO:0032991, GO:0031235, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005783, extracellular exosome, membrane raft, slit diaphragm, protein-containing complex, intrinsic component of the cytoplasmic side of the plasma membrane, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0072249, GO:0031532, GO:0007588, metanephric glomerular visceral epithelial cell development, actin cytoskeleton reorganization, excretion, 0 0 0 0 0 0 0 0 0 ENSG00000116221 chr1 54184041 54225464 + MRPL37 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 51253 GO:0005762, GO:0005761, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 12 9 25 54 17 73 34 30 62 ENSG00000116237 chr1 6221193 6235972 - ICMT protein_coding This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq, Jul 2008]. 23463 GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0004671, GO:0003880, protein binding, protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity, protein C-terminal carboxyl O-methyltransferase activity, GO:0043687, GO:0006612, GO:0006481, GO:0006464, post-translational protein modification, protein targeting to membrane, C-terminal protein methylation, cellular protein modification process, 23 22 47 61 24 49 37 28 49 ENSG00000116251 chr1 6185020 6209389 - RPL22 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008]. 6146 GO:1990904, GO:0070062, GO:0022625, GO:0005925, GO:0005829, GO:0005737, GO:0005634, ribonucleoprotein complex, extracellular exosome, cytosolic large ribosomal subunit, focal adhesion, cytosol, cytoplasm, nucleus, GO:0042802, GO:0008201, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, identical protein binding, heparin binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0046632, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, alpha-beta T cell differentiation, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 84 59 127 282 162 335 249 104 172 ENSG00000116254 chr1 6101793 6180123 - CHD5 protein_coding This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]. 26038 GO:0016607, GO:0016581, GO:0016020, GO:0005829, GO:0005654, GO:0005634, GO:0000792, nuclear speck, NuRD complex, membrane, cytosol, nucleoplasm, nucleus, heterochromatin, GO:0061628, GO:0046872, GO:0005524, GO:0003678, GO:0003677, H3K27me3 modified histone binding, metal ion binding, ATP binding, DNA helicase activity, DNA binding, GO:1901798, GO:0098532, GO:0043967, GO:0035093, GO:0032508, GO:0021895, GO:0008285, GO:0006357, positive regulation of signal transduction by p53 class mediator, histone H3-K27 trimethylation, histone H4 acetylation, spermatogenesis, exchange of chromosomal proteins, DNA duplex unwinding, cerebral cortex neuron differentiation, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 0 2 1 0 2 0 0 0 0 ENSG00000116260 chr1 180154834 180204030 + QSOX1 protein_coding This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5768 GO:1904724, GO:0070062, GO:0070062, GO:0045171, GO:0043231, GO:0035580, GO:0031093, GO:0030173, GO:0030173, GO:0005794, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0000139, tertiary granule lumen, extracellular exosome, extracellular exosome, intercellular bridge, intracellular membrane-bounded organelle, specific granule lumen, platelet alpha granule lumen, integral component of Golgi membrane, integral component of Golgi membrane, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, Golgi membrane, GO:0071949, GO:0016971, GO:0016971, GO:0003756, GO:0003756, FAD binding, flavin-linked sulfhydryl oxidase activity, flavin-linked sulfhydryl oxidase activity, protein disulfide isomerase activity, protein disulfide isomerase activity, GO:0085029, GO:0055114, GO:0044267, GO:0043687, GO:0043312, GO:0016242, GO:0006457, GO:0002576, extracellular matrix assembly, oxidation-reduction process, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, negative regulation of macroautophagy, protein folding, platelet degranulation, 587 1191 2127 348 906 1197 376 653 893 ENSG00000116266 chr1 108746674 108809526 + STXBP3 protein_coding 6814 GO:0098793, GO:0098793, GO:0070820, GO:0070062, GO:0045335, GO:0042581, GO:0031091, GO:0030141, GO:0016324, GO:0016323, GO:0005886, GO:0005886, GO:0005829, GO:0005829, presynapse, presynapse, tertiary granule, extracellular exosome, phagocytic vesicle, specific granule, platelet alpha granule, secretory granule, apical plasma membrane, basolateral plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, GO:0044877, GO:0019905, GO:0019905, GO:0017075, GO:0005515, protein-containing complex binding, syntaxin binding, syntaxin binding, syntaxin-1 binding, protein binding, GO:0071346, GO:0070527, GO:0046325, GO:0045955, GO:0043312, GO:0032868, GO:0030073, GO:0022615, GO:0016192, GO:0007420, GO:0007269, GO:0006904, GO:0006886, GO:0001678, cellular response to interferon-gamma, platelet aggregation, negative regulation of glucose import, negative regulation of calcium ion-dependent exocytosis, neutrophil degranulation, response to insulin, insulin secretion, protein to membrane docking, vesicle-mediated transport, brain development, neurotransmitter secretion, vesicle docking involved in exocytosis, intracellular protein transport, cellular glucose homeostasis, 1710 1418 2233 881 1347 1183 1175 1143 958 ENSG00000116273 chr1 6613685 6624033 + PHF13 protein_coding 148479 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0035064, GO:0003682, GO:0003682, metal ion binding, methylated histone binding, chromatin binding, chromatin binding, GO:0051301, GO:0007076, GO:0007076, GO:0007059, GO:0006325, GO:0000278, cell division, mitotic chromosome condensation, mitotic chromosome condensation, chromosome segregation, chromatin organization, mitotic cell cycle, 119 177 164 76 77 105 97 92 97 ENSG00000116285 chr1 8004404 8026308 - ERRFI1 protein_coding ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]. 54206 GO:0031234, GO:0031234, GO:0005829, GO:0005737, GO:0005634, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, cytosol, cytoplasm, nucleus, GO:0031267, GO:0019901, GO:0017124, GO:0005515, GO:0005096, small GTPase binding, protein kinase binding, SH3 domain binding, protein binding, GTPase activator activity, GO:1903243, GO:0071549, GO:0071474, GO:0071364, GO:0070373, GO:0061469, GO:0060428, GO:0060426, GO:0048286, GO:0045616, GO:0045616, GO:0043589, GO:0043547, GO:0042059, GO:0036120, GO:0032966, GO:0032869, GO:0032691, GO:0031953, GO:0007175, GO:0007175, negative regulation of cardiac muscle hypertrophy in response to stress, cellular response to dexamethasone stimulus, cellular hyperosmotic response, cellular response to epidermal growth factor stimulus, negative regulation of ERK1 and ERK2 cascade, regulation of type B pancreatic cell proliferation, lung epithelium development, lung vasculature development, lung alveolus development, regulation of keratinocyte differentiation, regulation of keratinocyte differentiation, skin morphogenesis, positive regulation of GTPase activity, negative regulation of epidermal growth factor receptor signaling pathway, cellular response to platelet-derived growth factor stimulus, negative regulation of collagen biosynthetic process, cellular response to insulin stimulus, negative regulation of interleukin-1 beta production, negative regulation of protein autophosphorylation, negative regulation of epidermal growth factor-activated receptor activity, negative regulation of epidermal growth factor-activated receptor activity, 8 8 17 26 10 25 24 8 14 ENSG00000116288 chr1 7954291 7985505 + PARK7 protein_coding The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 11315 GO:0098793, GO:0070062, GO:0048471, GO:0045121, GO:0044297, GO:0030424, GO:0016605, GO:0005912, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005759, GO:0005758, GO:0005739, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, presynapse, extracellular exosome, perinuclear region of cytoplasm, membrane raft, cell body, axon, PML body, adherens junction, plasma membrane, cytosol, cytosol, cytosol, endoplasmic reticulum, mitochondrial matrix, mitochondrial intermembrane space, mitochondrion, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990422, GO:1990381, GO:1903136, GO:1903135, GO:0097110, GO:0070491, GO:0051920, GO:0050681, GO:0045340, GO:0045296, GO:0044877, GO:0044390, GO:0044388, GO:0042803, GO:0042802, GO:0036524, GO:0036524, GO:0036524, GO:0036478, GO:0036470, GO:0019955, GO:0019900, GO:0019899, GO:0016684, GO:0016532, GO:0008233, GO:0008134, GO:0005515, GO:0005507, GO:0005102, GO:0003729, GO:0003713, GO:0003713, GO:0003697, GO:0003690, GO:0001046, glyoxalase (glycolic acid-forming) activity, ubiquitin-specific protease binding, cuprous ion binding, cupric ion binding, scaffold protein binding, repressing transcription factor binding, peroxiredoxin activity, androgen receptor binding, mercury ion binding, cadherin binding, protein-containing complex binding, ubiquitin-like protein conjugating enzyme binding, small protein activating enzyme binding, protein homodimerization activity, identical protein binding, protein deglycase activity, protein deglycase activity, protein deglycase activity, L-dopa decarboxylase activator activity, tyrosine 3-monooxygenase activator activity, cytokine binding, kinase binding, enzyme binding, oxidoreductase activity, acting on peroxide as acceptor, superoxide dismutase copper chaperone activity, peptidase activity, transcription factor binding, protein binding, copper ion binding, signaling receptor binding, mRNA binding, transcription coactivator activity, transcription coactivator activity, single-stranded DNA binding, double-stranded DNA binding, core promoter sequence-specific DNA binding, GO:2001268, GO:2001237, GO:2000825, GO:2000679, GO:2000277, GO:2000157, GO:1905259, GO:1903599, GO:1903428, GO:1903427, GO:1903384, GO:1903377, GO:1903208, GO:1903206, GO:1903202, GO:1903200, GO:1903197, GO:1903190, GO:1903189, GO:1903181, GO:1903181, GO:1903178, GO:1903168, GO:1903122, GO:1903094, GO:1903073, GO:1902958, GO:1902903, GO:1902236, GO:1902177, GO:1901984, GO:1901671, GO:1901215, GO:1900182, GO:1900182, GO:0140041, GO:0110095, GO:0106046, GO:0106046, GO:0106045, GO:0106044, GO:0098869, GO:0070301, GO:0061727, GO:0060765, GO:0060548, GO:0060081, GO:0051899, GO:0051897, GO:0051881, GO:0051583, GO:0051444, GO:0051091, GO:0051091, GO:0050821, GO:0050821, GO:0050787, GO:0050727, GO:0046826, GO:0046295, GO:0045944, GO:0045944, GO:0045944, GO:0043524, GO:0043523, GO:0043066, GO:0042743, GO:0042593, GO:0036531, GO:0036530, GO:0036530, GO:0036530, GO:0036529, GO:0036529, GO:0036528, GO:0036527, GO:0036527, GO:0036526, GO:0036471, GO:0035065, GO:0034599, GO:0034599, GO:0033864, GO:0033234, GO:0033182, GO:0033138, GO:0032757, GO:0032435, GO:0032148, GO:0032091, GO:0032091, GO:0032091, GO:0031397, GO:0031334, GO:0030073, GO:0019249, GO:0018323, GO:0016570, GO:0010629, GO:0010628, GO:0010273, GO:0009438, GO:0009438, GO:0008344, GO:0007338, GO:0007265, GO:0007005, GO:0006954, GO:0006914, GO:0006517, GO:0006517, GO:0006517, GO:0006508, GO:0006469, GO:0006281, GO:0002866, GO:0001933, negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of androgen receptor activity, positive regulation of transcription regulatory region DNA binding, positive regulation of oxidative phosphorylation uncoupler activity, negative regulation of ubiquitin-specific protease activity, negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway, positive regulation of autophagy of mitochondrion, positive regulation of reactive oxygen species biosynthetic process, negative regulation of reactive oxygen species biosynthetic process, negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway, negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway, negative regulation of hydrogen peroxide-induced neuron death, negative regulation of hydrogen peroxide-induced cell death, negative regulation of oxidative stress-induced cell death, positive regulation of L-dopa decarboxylase activity, positive regulation of L-dopa biosynthetic process, glyoxal catabolic process, glyoxal metabolic process, positive regulation of dopamine biosynthetic process, positive regulation of dopamine biosynthetic process, positive regulation of tyrosine 3-monooxygenase activity, positive regulation of pyrroline-5-carboxylate reductase activity, negative regulation of TRAIL-activated apoptotic signaling pathway, negative regulation of protein K48-linked deubiquitination, negative regulation of death-inducing signaling complex assembly, positive regulation of mitochondrial electron transport, NADH to ubiquinone, regulation of supramolecular fiber organization, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, negative regulation of protein acetylation, positive regulation of superoxide dismutase activity, negative regulation of neuron death, positive regulation of protein localization to nucleus, positive regulation of protein localization to nucleus, cellular detoxification of methylglyoxal, cellular detoxification of aldehyde, guanine deglycation, glyoxal removal, guanine deglycation, glyoxal removal, guanine deglycation, methylglyoxal removal, guanine deglycation, cellular oxidant detoxification, cellular response to hydrogen peroxide, methylglyoxal catabolic process to lactate, regulation of androgen receptor signaling pathway, negative regulation of cell death, membrane hyperpolarization, membrane depolarization, positive regulation of protein kinase B signaling, regulation of mitochondrial membrane potential, dopamine uptake involved in synaptic transmission, negative regulation of ubiquitin-protein transferase activity, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, protein stabilization, protein stabilization, detoxification of mercury ion, regulation of inflammatory response, negative regulation of protein export from nucleus, glycolate biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of neuron apoptotic process, regulation of neuron apoptotic process, negative regulation of apoptotic process, hydrogen peroxide metabolic process, glucose homeostasis, glutathione deglycation, protein deglycation, methylglyoxal removal, protein deglycation, methylglyoxal removal, protein deglycation, methylglyoxal removal, protein deglycation, glyoxal removal, protein deglycation, glyoxal removal, peptidyl-lysine deglycation, peptidyl-arginine deglycation, peptidyl-arginine deglycation, peptidyl-cysteine deglycation, cellular response to glyoxal, regulation of histone acetylation, cellular response to oxidative stress, cellular response to oxidative stress, positive regulation of NAD(P)H oxidase activity, negative regulation of protein sumoylation, regulation of histone ubiquitination, positive regulation of peptidyl-serine phosphorylation, positive regulation of interleukin-8 production, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, activation of protein kinase B activity, negative regulation of protein binding, negative regulation of protein binding, negative regulation of protein binding, negative regulation of protein ubiquitination, positive regulation of protein-containing complex assembly, insulin secretion, lactate biosynthetic process, enzyme active site formation via L-cysteine sulfinic acid, histone modification, negative regulation of gene expression, positive regulation of gene expression, detoxification of copper ion, methylglyoxal metabolic process, methylglyoxal metabolic process, adult locomotory behavior, single fertilization, Ras protein signal transduction, mitochondrion organization, inflammatory response, autophagy, protein deglycosylation, protein deglycosylation, protein deglycosylation, proteolysis, negative regulation of protein kinase activity, DNA repair, positive regulation of acute inflammatory response to antigenic stimulus, negative regulation of protein phosphorylation, 241 179 244 120 136 203 129 126 111 ENSG00000116299 chr1 109113679 109206781 + KIAA1324 protein_coding Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]. 57535 GO:0070062, GO:0031902, GO:0016021, GO:0005887, GO:0005887, GO:0005886, GO:0005802, GO:0005802, GO:0005789, GO:0005770, GO:0005770, GO:0005765, GO:0005764, GO:0005764, extracellular exosome, late endosome membrane, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, trans-Golgi network, trans-Golgi network, endoplasmic reticulum membrane, late endosome, late endosome, lysosomal membrane, lysosome, lysosome, GO:0003723, RNA binding, GO:2000786, GO:0044090, GO:0044090, GO:0009267, GO:0000045, GO:0000045, positive regulation of autophagosome assembly, positive regulation of vacuole organization, positive regulation of vacuole organization, cellular response to starvation, autophagosome assembly, autophagosome assembly, 2085 1660 1593 740 1060 595 986 860 596 ENSG00000116329 chr1 28812142 28871267 + OPRD1 protein_coding 4985 GO:0099061, GO:0045121, GO:0043679, GO:0043005, GO:0032590, GO:0031226, GO:0030285, GO:0005887, GO:0005886, integral component of postsynaptic density membrane, membrane raft, axon terminus, neuron projection, dendrite membrane, intrinsic component of plasma membrane, integral component of synaptic vesicle membrane, integral component of plasma membrane, plasma membrane, GO:0042923, GO:0042277, GO:0038046, GO:0038046, GO:0033612, GO:0005515, GO:0004985, GO:0004930, neuropeptide binding, peptide binding, enkephalin receptor activity, enkephalin receptor activity, receptor serine/threonine kinase binding, protein binding, opioid receptor activity, G protein-coupled receptor activity, GO:0097237, GO:0071456, GO:0071363, GO:0051930, GO:0051924, GO:0051881, GO:0042755, GO:0038003, GO:0038003, GO:0033138, GO:0032793, GO:0031333, GO:0019221, GO:0010629, GO:0008344, GO:0007218, GO:0007200, GO:0007193, GO:0007187, GO:0007186, GO:0007186, GO:0006955, cellular response to toxic substance, cellular response to hypoxia, cellular response to growth factor stimulus, regulation of sensory perception of pain, regulation of calcium ion transport, regulation of mitochondrial membrane potential, eating behavior, opioid receptor signaling pathway, opioid receptor signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of CREB transcription factor activity, negative regulation of protein-containing complex assembly, cytokine-mediated signaling pathway, negative regulation of gene expression, adult locomotory behavior, neuropeptide signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, 0 0 0 3 0 1 1 0 0 ENSG00000116337 chr1 109616104 109632051 + AMPD2 protein_coding The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 271 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0046872, GO:0005515, GO:0003876, GO:0003876, GO:0003876, metal ion binding, protein binding, AMP deaminase activity, AMP deaminase activity, AMP deaminase activity, GO:0097009, GO:0052652, GO:0046033, GO:0043101, GO:0032264, GO:0006188, GO:0006188, energy homeostasis, cyclic purine nucleotide metabolic process, AMP metabolic process, purine-containing compound salvage, IMP salvage, IMP biosynthetic process, IMP biosynthetic process, 11541 14815 14537 7300 14680 11593 7661 9902 9972 ENSG00000116350 chr1 29147743 29181987 - SRSF4 protein_coding This gene encodes a member of the arginine/serine-rich splicing factor family. The encoded protein likely functions in mRNA processing. [provided by RefSeq, Feb 2009]. 6429 GO:0016607, GO:0016607, GO:0005654, nuclear speck, nuclear speck, nucleoplasm, GO:1990825, GO:0005515, GO:0003729, GO:0003723, GO:0003723, sequence-specific mRNA binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:0048025, GO:0045292, GO:0032868, GO:0031124, GO:0008380, GO:0006406, GO:0006405, GO:0006397, GO:0000398, GO:0000381, GO:0000375, negative regulation of mRNA splicing, via spliceosome, mRNA cis splicing, via spliceosome, response to insulin, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 1157 1372 1483 1457 1571 1636 1363 1163 1056 ENSG00000116353 chr1 29192873 29230942 - MECR protein_coding The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]. 51102 GO:0005759, GO:0005739, GO:0005739, GO:0005634, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0019166, GO:0019166, trans-2-enoyl-CoA reductase (NADPH) activity, trans-2-enoyl-CoA reductase (NADPH) activity, GO:0006635, GO:0006633, GO:0006631, GO:0006631, GO:0006631, fatty acid beta-oxidation, fatty acid biosynthetic process, fatty acid metabolic process, fatty acid metabolic process, fatty acid metabolic process, 2 4 3 9 2 21 2 1 9 ENSG00000116396 chr1 110211343 110283100 + KCNC4 protein_coding The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]. 3749 GO:0043679, GO:0032809, GO:0032590, GO:0031594, GO:0030424, GO:0016021, GO:0008076, GO:0005886, axon terminus, neuronal cell body membrane, dendrite membrane, neuromuscular junction, axon, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, GO:0005515, GO:0005267, GO:0005251, GO:0005249, protein binding, potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0051260, GO:0046928, GO:0034765, GO:0007268, GO:0006813, potassium ion transmembrane transport, protein homooligomerization, regulation of neurotransmitter secretion, regulation of ion transmembrane transport, chemical synaptic transmission, potassium ion transport, 22 24 43 46 17 57 46 23 43 ENSG00000116406 chr1 184690231 184754913 - EDEM3 protein_coding Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]. 80267 GO:0044322, GO:0016020, GO:0005788, endoplasmic reticulum quality control compartment, membrane, endoplasmic reticulum lumen, GO:0005509, GO:0004571, calcium ion binding, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, GO:1904382, GO:1904382, GO:0006986, GO:0006486, GO:0005975, mannose trimming involved in glycoprotein ERAD pathway, mannose trimming involved in glycoprotein ERAD pathway, response to unfolded protein, protein glycosylation, carbohydrate metabolic process, 926 996 1212 613 824 855 779 714 711 ENSG00000116455 chr1 111439890 111449376 - WDR77 protein_coding The protein encoded by this gene is an androgen receptor coactivator that forms a complex with protein arginine methyltransferase 5, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. The encoded protein may be involved in the early stages of prostate cancer, with most of the protein being nuclear-localized in benign cells but cytoplasmic in cancer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 79084 GO:0045495, GO:0034709, GO:0034709, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0005634, pole plasm, methylosome, methylosome, cytosol, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0030374, GO:0030374, GO:0008327, GO:0008327, GO:0005515, nuclear receptor coactivator activity, nuclear receptor coactivator activity, methyl-CpG binding, methyl-CpG binding, protein binding, GO:1903508, GO:0060770, GO:0060528, GO:0008284, GO:0007315, GO:0006357, GO:0000387, positive regulation of nucleic acid-templated transcription, negative regulation of epithelial cell proliferation involved in prostate gland development, secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development, positive regulation of cell population proliferation, pole plasm assembly, regulation of transcription by RNA polymerase II, spliceosomal snRNP assembly, 18 14 21 26 14 38 18 13 8 ENSG00000116459 chr1 111448864 111462773 + ATP5PB protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]. 515 GO:0016020, GO:0005759, GO:0005753, GO:0005743, GO:0005739, GO:0005739, GO:0005654, GO:0005634, GO:0000276, membrane, mitochondrial matrix, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, nucleus, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, protein binding, GO:0042776, GO:0042776, GO:0042407, GO:0021762, GO:0015986, GO:0006754, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, substantia nigra development, ATP synthesis coupled proton transport, ATP biosynthetic process, 423 332 441 270 261 258 220 263 205 ENSG00000116473 chr1 111542218 111716691 + RAP1A protein_coding This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 5906 GO:0098978, GO:0098978, GO:0070062, GO:0048471, GO:0045335, GO:0043005, GO:0035579, GO:0032045, GO:0030054, GO:0005886, GO:0005886, GO:0005829, GO:0005770, GO:0005769, GO:0005737, glutamatergic synapse, glutamatergic synapse, extracellular exosome, perinuclear region of cytoplasm, phagocytic vesicle, neuron projection, specific granule membrane, guanyl-nucleotide exchange factor complex, cell junction, plasma membrane, plasma membrane, cytosol, late endosome, early endosome, cytoplasm, GO:0044877, GO:0019003, GO:0005525, GO:0005515, GO:0005085, GO:0003924, protein-containing complex binding, GDP binding, GTP binding, protein binding, guanyl-nucleotide exchange factor activity, GTPase activity, GO:2001214, GO:2000301, GO:1990090, GO:1905451, GO:1901888, GO:0098696, GO:0098696, GO:0097421, GO:0097327, GO:0072659, GO:0071320, GO:0071320, GO:0070374, GO:0061028, GO:0050796, GO:0046326, GO:0045860, GO:0043547, GO:0043312, GO:0038180, GO:0035690, GO:0032966, GO:0032486, GO:0032486, GO:0030033, GO:0010976, GO:0009743, positive regulation of vasculogenesis, negative regulation of synaptic vesicle exocytosis, cellular response to nerve growth factor stimulus, positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis, regulation of cell junction assembly, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, liver regeneration, response to antineoplastic agent, protein localization to plasma membrane, cellular response to cAMP, cellular response to cAMP, positive regulation of ERK1 and ERK2 cascade, establishment of endothelial barrier, regulation of insulin secretion, positive regulation of glucose import, positive regulation of protein kinase activity, positive regulation of GTPase activity, neutrophil degranulation, nerve growth factor signaling pathway, cellular response to drug, negative regulation of collagen biosynthetic process, Rap protein signal transduction, Rap protein signal transduction, microvillus assembly, positive regulation of neuron projection development, response to carbohydrate, 3135 2911 3327 1288 2584 1941 1672 2331 1695 ENSG00000116478 chr1 32292086 32333635 + HDAC1 protein_coding Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008]. 3065 GO:0048471, GO:0043025, GO:0043005, GO:0032991, GO:0032991, GO:0016581, GO:0016580, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000792, GO:0000785, GO:0000785, GO:0000118, GO:0000118, perinuclear region of cytoplasm, neuronal cell body, neuron projection, protein-containing complex, protein-containing complex, NuRD complex, Sin3 complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, heterochromatin, chromatin, chromatin, histone deacetylase complex, histone deacetylase complex, GO:1990841, GO:0070888, GO:0070491, GO:0051059, GO:0047485, GO:0042826, GO:0035851, GO:0033613, GO:0033558, GO:0033558, GO:0032041, GO:0031492, GO:0019899, GO:0019213, GO:0008134, GO:0008134, GO:0005515, GO:0004407, GO:0004407, GO:0004407, GO:0004407, GO:0003714, GO:0002039, GO:0001103, GO:0001085, GO:0001046, GO:0000979, GO:0000978, promoter-specific chromatin binding, E-box binding, repressing transcription factor binding, NF-kappaB binding, protein N-terminus binding, histone deacetylase binding, Krueppel-associated box domain binding, activating transcription factor binding, protein deacetylase activity, protein deacetylase activity, NAD-dependent histone deacetylase activity (H3-K14 specific), nucleosomal DNA binding, enzyme binding, deacetylase activity, transcription factor binding, transcription factor binding, protein binding, histone deacetylase activity, histone deacetylase activity, histone deacetylase activity, histone deacetylase activity, transcription corepressor activity, p53 binding, RNA polymerase II repressing transcription factor binding, RNA polymerase II transcription factor binding, core promoter sequence-specific DNA binding, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001243, GO:2000757, GO:2000676, GO:2000343, GO:1904837, GO:1901796, GO:1900221, GO:0090090, GO:0071356, GO:0070933, GO:0070933, GO:0070932, GO:0070932, GO:0061198, GO:0061029, GO:0060789, GO:0060766, GO:0055093, GO:0052548, GO:0048714, GO:0046676, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0045652, GO:0043922, GO:0043524, GO:0043124, GO:0043066, GO:0043066, GO:0043044, GO:0042733, GO:0042531, GO:0042493, GO:0042475, GO:0034599, GO:0032922, GO:0032760, GO:0032732, GO:0032496, GO:0031000, GO:0030182, GO:0021766, GO:0016575, GO:0010832, GO:0010629, GO:0009913, GO:0008285, GO:0008284, GO:0007596, GO:0007492, GO:0006476, GO:0006357, GO:0006346, GO:0006338, GO:0006325, GO:0001975, GO:0000122, GO:0000122, GO:0000122, GO:0000122, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of peptidyl-lysine acetylation, positive regulation of type B pancreatic cell apoptotic process, positive regulation of chemokine (C-X-C motif) ligand 2 production, beta-catenin-TCF complex assembly, regulation of signal transduction by p53 class mediator, regulation of amyloid-beta clearance, negative regulation of canonical Wnt signaling pathway, cellular response to tumor necrosis factor, histone H4 deacetylation, histone H4 deacetylation, histone H3 deacetylation, histone H3 deacetylation, fungiform papilla formation, eyelid development in camera-type eye, hair follicle placode formation, negative regulation of androgen receptor signaling pathway, response to hyperoxia, regulation of endopeptidase activity, positive regulation of oligodendrocyte differentiation, negative regulation of insulin secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, negative regulation by host of viral transcription, negative regulation of neuron apoptotic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, negative regulation of apoptotic process, ATP-dependent chromatin remodeling, embryonic digit morphogenesis, positive regulation of tyrosine phosphorylation of STAT protein, response to drug, odontogenesis of dentin-containing tooth, cellular response to oxidative stress, circadian regulation of gene expression, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 production, response to lipopolysaccharide, response to caffeine, neuron differentiation, hippocampus development, histone deacetylation, negative regulation of myotube differentiation, negative regulation of gene expression, epidermal cell differentiation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, blood coagulation, endoderm development, protein deacetylation, regulation of transcription by RNA polymerase II, DNA methylation-dependent heterochromatin assembly, chromatin remodeling, chromatin organization, response to amphetamine, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 553 528 650 502 533 587 524 431 456 ENSG00000116489 chr1 112619173 112671619 + CAPZA1 protein_coding CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]. 829 GO:0071203, GO:0070062, GO:0015629, GO:0008290, GO:0005856, GO:0005829, GO:0005576, WASH complex, extracellular exosome, actin cytoskeleton, F-actin capping protein complex, cytoskeleton, cytosol, extracellular region, GO:0051015, GO:0045296, GO:0005515, GO:0003779, actin filament binding, cadherin binding, protein binding, actin binding, GO:0065003, GO:0051016, GO:0045087, GO:0035722, GO:0034329, GO:0030036, GO:0019886, GO:0007596, GO:0006888, protein-containing complex assembly, barbed-end actin filament capping, innate immune response, interleukin-12-mediated signaling pathway, cell junction assembly, actin cytoskeleton organization, antigen processing and presentation of exogenous peptide antigen via MHC class II, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, 6007 5239 7986 3161 4480 4389 3340 3321 3472 ENSG00000116497 chr1 32816767 32858879 + S100PBP protein_coding This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]. 64766 GO:0016607, GO:0005829, GO:0005829, GO:0005634, GO:0005634, nuclear speck, cytosol, cytosol, nucleus, nucleus, GO:0048306, GO:0048306, GO:0005515, calcium-dependent protein binding, calcium-dependent protein binding, protein binding, 181 190 272 196 241 263 197 180 248 ENSG00000116514 chr1 32936445 32964685 - RNF19B protein_coding This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014]. 127544 GO:0044194, GO:0016021, GO:0005829, GO:0005829, GO:0005789, GO:0005783, GO:0005737, GO:0000151, cytolytic granule, integral component of membrane, cytosol, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0046872, GO:0043130, GO:0031624, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ubiquitin binding, ubiquitin conjugating enzyme binding, protein binding, GO:0051865, GO:0032436, GO:0006511, GO:0002250, GO:0000209, GO:0000209, protein autoubiquitination, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, adaptive immune response, protein polyubiquitination, protein polyubiquitination, 7549 6081 14629 1061 2316 1722 1430 1997 1656 ENSG00000116521 chr1 155255979 155262430 - SCAMP3 protein_coding This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]. 10067 GO:0070062, GO:0055038, GO:0043231, GO:0032588, GO:0016021, extracellular exosome, recycling endosome membrane, intracellular membrane-bounded organelle, trans-Golgi network membrane, integral component of membrane, GO:0031625, ubiquitin protein ligase binding, GO:0015031, GO:0006892, protein transport, post-Golgi vesicle-mediated transport, 0 0 0 0 0 0 0 0 0 ENSG00000116525 chr1 33145402 33182059 - TRIM62 protein_coding 55223 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:0061630, GO:0042802, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:1902186, GO:0060333, GO:0051092, GO:0051092, GO:0051091, GO:0046596, GO:0045087, GO:0045087, GO:0043123, GO:0043123, GO:0032897, GO:0016567, GO:0016567, GO:0010719, regulation of viral release from host cell, interferon-gamma-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, regulation of viral entry into host cell, innate immune response, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of viral transcription, protein ubiquitination, protein ubiquitination, negative regulation of epithelial to mesenchymal transition, 160 187 244 153 130 147 127 105 121 ENSG00000116539 chr1 155335268 155562807 - ASH1L protein_coding This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]. 55870 GO:0005923, GO:0005794, GO:0005694, GO:0005654, GO:0005654, GO:0005634, bicellular tight junction, Golgi apparatus, chromosome, nucleoplasm, nucleoplasm, nucleus, GO:0046975, GO:0046974, GO:0046872, GO:0042800, GO:0003682, GO:0003677, histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K9 specific), metal ion binding, histone methyltransferase activity (H3-K4 specific), chromatin binding, DNA binding, GO:1903709, GO:1903699, GO:0097676, GO:0061038, GO:0051568, GO:0051567, GO:0046697, GO:0045944, GO:0043409, GO:0043124, GO:0032635, GO:0030317, GO:0009791, GO:0007338, GO:0002674, GO:0001501, uterine gland development, tarsal gland development, histone H3-K36 dimethylation, uterus morphogenesis, histone H3-K4 methylation, histone H3-K9 methylation, decidualization, positive regulation of transcription by RNA polymerase II, negative regulation of MAPK cascade, negative regulation of I-kappaB kinase/NF-kappaB signaling, interleukin-6 production, flagellated sperm motility, post-embryonic development, single fertilization, negative regulation of acute inflammatory response, skeletal system development, 1554 1715 1894 715 1113 1205 1098 893 1022 ENSG00000116544 chr1 34865436 34929585 - DLGAP3 protein_coding 58512 GO:0099572, GO:0098981, GO:0098978, GO:0031594, GO:0014069, GO:0005886, postsynaptic specialization, cholinergic synapse, glutamatergic synapse, neuromuscular junction, postsynaptic density, plasma membrane, GO:0060090, GO:0005515, GO:0001540, molecular adaptor activity, protein binding, amyloid-beta binding, GO:0098962, GO:0023052, regulation of postsynaptic neurotransmitter receptor activity, signaling, 2 2 0 3 4 9 2 0 1 ENSG00000116560 chr1 35176378 35193148 - SFPQ protein_coding 6421 GO:0090575, GO:0042382, GO:0016607, GO:0016363, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, paraspeckles, nuclear speck, nuclear matrix, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0070888, GO:0042826, GO:0042803, GO:0005515, GO:0003723, GO:0003682, GO:0003677, GO:0003676, GO:0000976, GO:0000976, E-box binding, histone deacetylase binding, protein homodimerization activity, protein binding, RNA binding, chromatin binding, DNA binding, nucleic acid binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1902177, GO:0070932, GO:0048511, GO:0045944, GO:0045892, GO:0045876, GO:0045087, GO:0042754, GO:0042752, GO:0008380, GO:0006397, GO:0006355, GO:0002218, GO:0000724, GO:0000398, GO:0000380, GO:0000380, GO:0000122, GO:0000122, GO:0000122, positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, histone H3 deacetylation, rhythmic process, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of sister chromatid cohesion, innate immune response, negative regulation of circadian rhythm, regulation of circadian rhythm, RNA splicing, mRNA processing, regulation of transcription, DNA-templated, activation of innate immune response, double-strand break repair via homologous recombination, mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2588 3341 3662 6043 7455 7917 5833 4577 5316 ENSG00000116574 chr1 228735077 228746669 + RHOU protein_coding This gene encodes a member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. A non-coding transcript variant of this gene results from naturally occurring read-through transcription between this locus and the neighboring DUSP5P (dual specificity phosphatase 5 pseudogene) locus.[provided by RefSeq, Mar 2011]. 58480 GO:0042995, GO:0005925, GO:0005886, GO:0005829, GO:0002102, GO:0000139, cell projection, focal adhesion, plasma membrane, cytosol, podosome, Golgi membrane, GO:0046872, GO:0005525, GO:0005515, GO:0003924, metal ion binding, GTP binding, protein binding, GTPase activity, GO:1903955, GO:0051056, GO:0032488, GO:0030036, GO:0030031, GO:0019221, GO:0016601, GO:0016477, GO:0008360, GO:0007010, GO:0006897, GO:0000082, positive regulation of protein targeting to mitochondrion, regulation of small GTPase mediated signal transduction, Cdc42 protein signal transduction, actin cytoskeleton organization, cell projection assembly, cytokine-mediated signaling pathway, Rac protein signal transduction, cell migration, regulation of cell shape, cytoskeleton organization, endocytosis, G1/S transition of mitotic cell cycle, 92 13 48 33 14 39 37 12 40 ENSG00000116580 chr1 155749662 155859400 - GON4L protein_coding 54856 GO:0016604, GO:0005654, GO:0005634, nuclear body, nucleoplasm, nucleus, GO:0003714, GO:0003712, transcription corepressor activity, transcription coregulator activity, GO:0045892, GO:0030183, GO:0006355, negative regulation of transcription, DNA-templated, B cell differentiation, regulation of transcription, DNA-templated, 774 861 875 533 719 607 642 555 557 ENSG00000116584 chr1 155946851 156007070 - ARHGEF2 protein_coding Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]. 9181 GO:0043198, GO:0043025, GO:0032991, GO:0032587, GO:0032587, GO:0031982, GO:0031410, GO:0014069, GO:0005925, GO:0005923, GO:0005874, GO:0005856, GO:0005856, GO:0005829, GO:0005819, GO:0005794, GO:0005737, GO:0002102, dendritic shaft, neuronal cell body, protein-containing complex, ruffle membrane, ruffle membrane, vesicle, cytoplasmic vesicle, postsynaptic density, focal adhesion, bicellular tight junction, microtubule, cytoskeleton, cytoskeleton, cytosol, spindle, Golgi apparatus, cytoplasm, podosome, GO:0031267, GO:0008270, GO:0008134, GO:0008017, GO:0008017, GO:0005515, GO:0005085, GO:0005085, small GTPase binding, zinc ion binding, transcription factor binding, microtubule binding, microtubule binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2001224, GO:1902219, GO:1902042, GO:0071802, GO:0071474, GO:0071356, GO:0071225, GO:0060546, GO:0055059, GO:0051092, GO:0051056, GO:0050768, GO:0050731, GO:0045944, GO:0045666, GO:0045666, GO:0045087, GO:0043065, GO:0042127, GO:0035556, GO:0035023, GO:0035023, GO:0032760, GO:0032755, GO:0007186, GO:0007026, GO:0007015, GO:0007015, GO:0006886, GO:0000902, GO:0000902, GO:0000132, positive regulation of neuron migration, negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of podosome assembly, cellular hyperosmotic response, cellular response to tumor necrosis factor, cellular response to muramyl dipeptide, negative regulation of necroptotic process, asymmetric neuroblast division, positive regulation of NF-kappaB transcription factor activity, regulation of small GTPase mediated signal transduction, negative regulation of neurogenesis, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, positive regulation of neuron differentiation, innate immune response, positive regulation of apoptotic process, regulation of cell population proliferation, intracellular signal transduction, regulation of Rho protein signal transduction, regulation of Rho protein signal transduction, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, G protein-coupled receptor signaling pathway, negative regulation of microtubule depolymerization, actin filament organization, actin filament organization, intracellular protein transport, cell morphogenesis, cell morphogenesis, establishment of mitotic spindle orientation, 2399 1963 3112 1817 2370 2062 2054 1769 1889 ENSG00000116586 chr1 156054752 156058510 + LAMTOR2 protein_coding The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]. 28956 GO:0071986, GO:0071986, GO:0070821, GO:0035579, GO:0010008, GO:0005886, GO:0005770, GO:0005765, GO:0005765, Ragulator complex, Ragulator complex, tertiary granule membrane, specific granule membrane, endosome membrane, plasma membrane, late endosome, lysosomal membrane, lysosomal membrane, GO:0060090, GO:0005515, GO:0005085, molecular adaptor activity, protein binding, guanyl-nucleotide exchange factor activity, GO:1902414, GO:0150116, GO:0071230, GO:0071230, GO:0043312, GO:0034613, GO:0032008, GO:0032008, GO:0016241, GO:0010761, GO:0007050, GO:0001558, GO:0000186, GO:0000165, protein localization to cell junction, regulation of cell-substrate junction organization, cellular response to amino acid stimulus, cellular response to amino acid stimulus, neutrophil degranulation, cellular protein localization, positive regulation of TOR signaling, positive regulation of TOR signaling, regulation of macroautophagy, fibroblast migration, cell cycle arrest, regulation of cell growth, activation of MAPKK activity, MAPK cascade, 117 118 146 76 94 83 71 103 79 ENSG00000116604 chr1 156463727 156500828 - MEF2D protein_coding This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. 4209 GO:0043231, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0046982, GO:0042826, GO:0042803, GO:0033613, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein heterodimerization activity, histone deacetylase binding, protein homodimerization activity, activating transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1904707, GO:0045944, GO:0045944, GO:0035914, GO:0030154, GO:0007517, GO:0007512, GO:0007399, GO:0006915, GO:0006357, GO:0002062, GO:0001958, GO:0001649, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, skeletal muscle cell differentiation, cell differentiation, muscle organ development, adult heart development, nervous system development, apoptotic process, regulation of transcription by RNA polymerase II, chondrocyte differentiation, endochondral ossification, osteoblast differentiation, 3503 5008 4077 4888 5831 5269 5059 4020 3971 ENSG00000116641 chr1 62454298 62688368 - DOCK7 protein_coding The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 85440 GO:0045178, GO:0043005, GO:0030426, GO:0030424, GO:0008180, GO:0005925, basal part of cell, neuron projection, growth cone, axon, COP9 signalosome, focal adhesion, GO:0031267, GO:0005515, GO:0005085, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, GO:1904754, GO:0120163, GO:0090630, GO:0050767, GO:0045200, GO:0033138, GO:0031175, GO:0022027, GO:0007409, GO:0007264, GO:0000226, positive regulation of vascular associated smooth muscle cell migration, negative regulation of cold-induced thermogenesis, activation of GTPase activity, regulation of neurogenesis, establishment of neuroblast polarity, positive regulation of peptidyl-serine phosphorylation, neuron projection development, interkinetic nuclear migration, axonogenesis, small GTPase mediated signal transduction, microtubule cytoskeleton organization, 8 11 14 17 3 26 15 12 25 ENSG00000116649 chr1 11054584 11060024 - SRM protein_coding The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008]. 6723 GO:0005829, cytosol, GO:0042803, GO:0042802, GO:0005515, GO:0004766, GO:0004766, GO:0004766, protein homodimerization activity, identical protein binding, protein binding, spermidine synthase activity, spermidine synthase activity, spermidine synthase activity, GO:1990830, GO:0008295, GO:0008295, GO:0008295, GO:0006596, GO:0006595, cellular response to leukemia inhibitory factor, spermidine biosynthetic process, spermidine biosynthetic process, spermidine biosynthetic process, polyamine biosynthetic process, polyamine metabolic process, 10 9 24 30 12 49 25 8 36 ENSG00000116652 chr1 63547082 63550636 + DLEU2L sense_intronic 4 2 4 14 1 14 5 1 3 ENSG00000116661 chr1 11637018 11655785 - FBXO2 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008]. 26232 GO:0043197, GO:0031090, GO:0019005, GO:0019005, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005737, dendritic spine, organelle membrane, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, GO:0061630, GO:0030246, GO:0005515, GO:0004842, GO:0001540, ubiquitin protein ligase activity, carbohydrate binding, protein binding, ubiquitin-protein transferase activity, amyloid-beta binding, GO:0043687, GO:0031396, GO:0031146, GO:0031146, GO:0030433, GO:0016567, GO:0008285, GO:0006516, GO:0006516, GO:0006508, GO:0006464, GO:0000209, post-translational protein modification, regulation of protein ubiquitination, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent ERAD pathway, protein ubiquitination, negative regulation of cell population proliferation, glycoprotein catabolic process, glycoprotein catabolic process, proteolysis, cellular protein modification process, protein polyubiquitination, 2 3 6 15 10 8 4 3 16 ENSG00000116663 chr1 11664124 11674354 + FBXO6 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008]. 26270 GO:0044322, GO:0019005, GO:0019005, GO:0005829, GO:0005737, GO:0005737, endoplasmic reticulum quality control compartment, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytoplasm, cytoplasm, GO:0061630, GO:0030246, GO:0005515, GO:0005515, ubiquitin protein ligase activity, carbohydrate binding, protein binding, protein binding, GO:0043687, GO:0031146, GO:0031146, GO:0030433, GO:0030433, GO:0006986, GO:0006516, GO:0006508, GO:0006281, GO:0000209, GO:0000077, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, response to unfolded protein, glycoprotein catabolic process, proteolysis, DNA repair, protein polyubiquitination, DNA damage checkpoint, 56 51 75 48 32 48 35 43 54 ENSG00000116667 chr1 184387058 184629020 + C1orf21 protein_coding 81563 GO:0005515, protein binding, 13 9 27 46 30 79 45 36 78 ENSG00000116668 chr1 185157080 185291765 + SWT1 protein_coding 54823 GO:0005634, nucleus, 112 143 175 87 143 155 100 102 130 ENSG00000116670 chr1 11674480 11691650 - MAD2L2 protein_coding The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]. 10459 GO:0035861, GO:0016035, GO:0016035, GO:0005829, GO:0005819, GO:0005730, GO:0005694, GO:0005680, GO:0005654, GO:0005634, site of double-strand break, zeta DNA polymerase complex, zeta DNA polymerase complex, cytosol, spindle, nucleolus, chromosome, anaphase-promoting complex, nucleoplasm, nucleus, GO:0008432, GO:0005515, GO:0001102, JUN kinase binding, protein binding, RNA polymerase II activating transcription factor binding, GO:2001034, GO:2000678, GO:2000048, GO:2000042, GO:1904667, GO:0090090, GO:0051301, GO:0045893, GO:0045830, GO:0043433, GO:0042772, GO:0042276, GO:0042177, GO:0033138, GO:0010944, GO:0010719, GO:0007094, GO:0007015, GO:0006302, GO:0001558, GO:0000122, positive regulation of double-strand break repair via nonhomologous end joining, negative regulation of transcription regulatory region DNA binding, negative regulation of cell-cell adhesion mediated by cadherin, negative regulation of double-strand break repair via homologous recombination, negative regulation of ubiquitin protein ligase activity, negative regulation of canonical Wnt signaling pathway, cell division, positive regulation of transcription, DNA-templated, positive regulation of isotype switching, negative regulation of DNA-binding transcription factor activity, DNA damage response, signal transduction resulting in transcription, error-prone translesion synthesis, negative regulation of protein catabolic process, positive regulation of peptidyl-serine phosphorylation, negative regulation of transcription by competitive promoter binding, negative regulation of epithelial to mesenchymal transition, mitotic spindle assembly checkpoint, actin filament organization, double-strand break repair, regulation of cell growth, negative regulation of transcription by RNA polymerase II, 95 73 93 70 84 96 81 72 77 ENSG00000116675 chr1 65248219 65415869 + DNAJC6 protein_coding DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]. 9829 GO:0098793, GO:0043231, GO:0031982, GO:0014069, GO:0005829, GO:0005737, presynapse, intracellular membrane-bounded organelle, vesicle, postsynaptic density, cytosol, cytoplasm, GO:0030276, GO:0017124, GO:0004725, clathrin binding, SH3 domain binding, protein tyrosine phosphatase activity, GO:2000369, GO:0072583, GO:0072318, GO:0061024, GO:0035335, GO:0016191, GO:0016191, regulation of clathrin-dependent endocytosis, clathrin-dependent endocytosis, clathrin coat disassembly, membrane organization, peptidyl-tyrosine dephosphorylation, synaptic vesicle uncoating, synaptic vesicle uncoating, 4 2 0 0 0 6 1 2 2 ENSG00000116678 chr1 65420652 65641559 + LEPR protein_coding The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]. 3953 GO:0043235, GO:0043235, GO:0016323, GO:0016021, GO:0009897, GO:0005576, receptor complex, receptor complex, basolateral plasma membrane, integral component of membrane, external side of plasma membrane, extracellular region, GO:0042802, GO:0038021, GO:0038021, GO:0019955, GO:0017046, GO:0005515, GO:0004896, GO:0004888, identical protein binding, leptin receptor activity, leptin receptor activity, cytokine binding, peptide hormone binding, protein binding, cytokine receptor activity, transmembrane signaling receptor activity, GO:0150104, GO:0120162, GO:0098868, GO:0097009, GO:0060259, GO:0051346, GO:0051049, GO:0046850, GO:0045721, GO:0044321, GO:0042593, GO:0033210, GO:0033210, GO:0033210, GO:0030217, GO:0019953, GO:0019221, GO:0014009, GO:0010507, GO:0008203, GO:0007275, GO:0007166, GO:0006909, GO:0006112, GO:0005977, GO:0001934, GO:0001525, transport across blood-brain barrier, positive regulation of cold-induced thermogenesis, bone growth, energy homeostasis, regulation of feeding behavior, negative regulation of hydrolase activity, regulation of transport, regulation of bone remodeling, negative regulation of gluconeogenesis, response to leptin, glucose homeostasis, leptin-mediated signaling pathway, leptin-mediated signaling pathway, leptin-mediated signaling pathway, T cell differentiation, sexual reproduction, cytokine-mediated signaling pathway, glial cell proliferation, negative regulation of autophagy, cholesterol metabolic process, multicellular organism development, cell surface receptor signaling pathway, phagocytosis, energy reserve metabolic process, glycogen metabolic process, positive regulation of protein phosphorylation, angiogenesis, 20 42 25 32 16 31 12 30 19 ENSG00000116679 chr1 185296388 185317329 - IVNS1ABP protein_coding 10625 GO:0005856, GO:0005829, GO:0005681, GO:0005667, GO:0005654, cytoskeleton, cytosol, spliceosomal complex, transcription regulator complex, nucleoplasm, GO:0005515, protein binding, GO:2001243, GO:0031397, GO:0016032, GO:0009615, GO:0008380, GO:0006383, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of protein ubiquitination, viral process, response to virus, RNA splicing, transcription by RNA polymerase III, 14034 23190 27031 30108 39525 39965 38337 34420 37639 ENSG00000116685 chr1 11919591 11926428 - KIAA2013 protein_coding 90231 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0005515, protein binding, 533 774 838 107 446 319 169 448 224 ENSG00000116688 chr1 11980181 12013514 + MFN2 protein_coding This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 9927 GO:0031306, GO:0031306, GO:0016021, GO:0005829, GO:0005741, GO:0005739, intrinsic component of mitochondrial outer membrane, intrinsic component of mitochondrial outer membrane, integral component of membrane, cytosol, mitochondrial outer membrane, mitochondrion, GO:0031625, GO:0005525, GO:0005515, GO:0003924, ubiquitin protein ligase binding, GTP binding, protein binding, GTPase activity, GO:1905461, GO:1904707, GO:0120162, GO:0061734, GO:0051646, GO:0051646, GO:0048662, GO:0046580, GO:0034497, GO:0016236, GO:0008053, GO:0008053, GO:0008053, GO:0008053, GO:0007596, GO:0007050, GO:0007006, GO:0006986, GO:0006915, GO:0006626, positive regulation of vascular associated smooth muscle cell apoptotic process, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of cold-induced thermogenesis, parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization, mitochondrion localization, mitochondrion localization, negative regulation of smooth muscle cell proliferation, negative regulation of Ras protein signal transduction, protein localization to phagophore assembly site, macroautophagy, mitochondrial fusion, mitochondrial fusion, mitochondrial fusion, mitochondrial fusion, blood coagulation, cell cycle arrest, mitochondrial membrane organization, response to unfolded protein, apoptotic process, protein targeting to mitochondrion, 1653 3172 4313 1028 2413 2387 977 1689 1975 ENSG00000116690 chr1 186296279 186314562 + PRG4 protein_coding The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 10216 GO:0062023, collagen-containing extracellular matrix, GO:0030247, GO:0030021, GO:0005044, polysaccharide binding, extracellular matrix structural constituent conferring compression resistance, scavenger receptor activity, GO:0006955, GO:0006897, immune response, endocytosis, 74 69 67 68 68 61 67 48 69 ENSG00000116691 chr1 12019466 12032045 + MIIP protein_coding This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]. 60672 GO:0005515, protein binding, GO:0030336, GO:0010972, negative regulation of cell migration, negative regulation of G2/M transition of mitotic cell cycle, 117 120 161 168 185 251 143 154 215 ENSG00000116698 chr1 183472216 183598246 + SMG7 protein_coding This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]. 9887 GO:0045111, GO:0005829, GO:0005829, GO:0005737, GO:0005697, GO:0005634, intermediate filament cytoskeleton, cytosol, cytosol, cytoplasm, telomerase holoenzyme complex, nucleus, GO:0070034, GO:0051721, GO:0042162, GO:0042162, GO:0005515, telomerase RNA binding, protein phosphatase 2A binding, telomeric DNA binding, telomeric DNA binding, protein binding, GO:0035303, GO:0006406, GO:0000184, GO:0000184, regulation of dephosphorylation, mRNA export from nucleus, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1286 1184 1234 712 925 985 911 710 936 ENSG00000116701 chr1 183555563 183590876 - NCF2 protein_coding This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]. 4688 GO:0043020, GO:0043020, GO:0032010, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005730, GO:0001669, NADPH oxidase complex, NADPH oxidase complex, phagolysosome, membrane, cytosol, cytosol, cytosol, nucleolus, acrosomal vesicle, GO:0031267, GO:0016176, GO:0016175, GO:0009055, GO:0008022, GO:0005515, small GTPase binding, superoxide-generating NADPH oxidase activator activity, superoxide-generating NAD(P)H oxidase activity, electron transfer activity, protein C-terminus binding, protein binding, GO:0055114, GO:0048010, GO:0045730, GO:0045454, GO:0045087, GO:0043085, GO:0042554, GO:0042554, GO:0034599, GO:0022900, GO:0006968, GO:0006909, GO:0006801, GO:0002479, oxidation-reduction process, vascular endothelial growth factor receptor signaling pathway, respiratory burst, cell redox homeostasis, innate immune response, positive regulation of catalytic activity, superoxide anion generation, superoxide anion generation, cellular response to oxidative stress, electron transport chain, cellular defense response, phagocytosis, superoxide metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 21885 20547 28862 10425 14762 14315 12192 13605 12353 ENSG00000116703 chr1 186443566 186461122 - PDC protein_coding This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 5132 GO:0005829, GO:0005634, GO:0001917, GO:0001750, cytosol, nucleus, photoreceptor inner segment, photoreceptor outer segment, GO:0004859, phospholipase inhibitor activity, GO:0043086, GO:0007602, GO:0007601, GO:0007186, negative regulation of catalytic activity, phototransduction, visual perception, G protein-coupled receptor signaling pathway, 2 3 1 0 3 0 0 3 0 ENSG00000116704 chr1 66999332 67054099 - SLC35D1 protein_coding Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]. 23169 GO:0016021, GO:0005794, GO:0005789, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, GO:0015297, GO:0005463, GO:0005462, GO:0005461, antiporter activity, UDP-N-acetylgalactosamine transmembrane transporter activity, UDP-N-acetylglucosamine transmembrane transporter activity, UDP-glucuronic acid transmembrane transporter activity, GO:1990569, GO:0048706, GO:0030206, GO:0015789, GO:0015787, GO:0008643, GO:0006065, UDP-N-acetylglucosamine transmembrane transport, embryonic skeletal system development, chondroitin sulfate biosynthetic process, UDP-N-acetylgalactosamine transmembrane transport, UDP-glucuronic acid transmembrane transport, carbohydrate transport, UDP-glucuronate biosynthetic process, 34 68 145 95 39 90 67 23 74 ENSG00000116711 chr1 186828953 186988981 + PLA2G4A protein_coding This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 5321 GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005811, GO:0005794, GO:0005789, GO:0005783, GO:0005743, GO:0005737, GO:0005635, GO:0005634, GO:0000139, cytosol, cytosol, cytosol, cytosol, lipid droplet, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial inner membrane, cytoplasm, nuclear envelope, nucleus, Golgi membrane, GO:1902387, GO:0102568, GO:0102567, GO:0102545, GO:0070273, GO:0047499, GO:0047498, GO:0047498, GO:0047498, GO:0032266, GO:0010314, GO:0008374, GO:0005544, GO:0005544, GO:0005509, GO:0005509, GO:0004623, GO:0004623, GO:0004623, GO:0004622, ceramide 1-phosphate binding, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), phosphatidyl phospholipase B activity, phosphatidylinositol-4-phosphate binding, calcium-independent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, O-acyltransferase activity, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, calcium ion binding, calcium ion binding, phospholipase A2 activity, phospholipase A2 activity, phospholipase A2 activity, lysophospholipase activity, GO:0071236, GO:0050482, GO:0046475, GO:0043032, GO:0042127, GO:0036152, GO:0036151, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0035965, GO:0034638, GO:0034478, GO:0032308, GO:0019370, GO:0019369, GO:0019369, GO:0019369, GO:0010572, GO:0006690, GO:0006663, GO:0006654, GO:0006644, GO:0006640, GO:0006071, GO:0002827, GO:0001516, GO:0001516, GO:0001516, cellular response to antibiotic, arachidonic acid secretion, glycerophospholipid catabolic process, positive regulation of macrophage activation, regulation of cell population proliferation, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, cardiolipin acyl-chain remodeling, phosphatidylcholine catabolic process, phosphatidylglycerol catabolic process, positive regulation of prostaglandin secretion, leukotriene biosynthetic process, arachidonic acid metabolic process, arachidonic acid metabolic process, arachidonic acid metabolic process, positive regulation of platelet activation, icosanoid metabolic process, platelet activating factor biosynthetic process, phosphatidic acid biosynthetic process, phospholipid metabolic process, monoacylglycerol biosynthetic process, glycerol metabolic process, positive regulation of T-helper 1 type immune response, prostaglandin biosynthetic process, prostaglandin biosynthetic process, prostaglandin biosynthetic process, 30 11 51 21 30 21 9 11 15 ENSG00000116717 chr1 67685061 67688338 + GADD45A protein_coding This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]. 1647 GO:0016607, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear speck, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1990841, GO:0047485, GO:0046982, GO:0042803, GO:0019900, GO:0005515, promoter-specific chromatin binding, protein N-terminus binding, protein heterodimerization activity, protein homodimerization activity, kinase binding, protein binding, GO:2000379, GO:1900745, GO:0071901, GO:0071850, GO:0071479, GO:0071260, GO:0051726, GO:0046330, GO:0043537, GO:0043065, GO:0042770, GO:0033140, GO:0016525, GO:0007098, GO:0007050, GO:0006977, GO:0006915, GO:0006281, GO:0000185, GO:0000185, GO:0000122, GO:0000079, positive regulation of reactive oxygen species metabolic process, positive regulation of p38MAPK cascade, negative regulation of protein serine/threonine kinase activity, mitotic cell cycle arrest, cellular response to ionizing radiation, cellular response to mechanical stimulus, regulation of cell cycle, positive regulation of JNK cascade, negative regulation of blood vessel endothelial cell migration, positive regulation of apoptotic process, signal transduction in response to DNA damage, negative regulation of peptidyl-serine phosphorylation of STAT protein, negative regulation of angiogenesis, centrosome cycle, cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, apoptotic process, DNA repair, activation of MAPKKK activity, activation of MAPKKK activity, negative regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 63 49 105 215 308 301 126 124 177 ENSG00000116721 chr1 12791397 12796628 + PRAMEF1 protein_coding This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]. 65121 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000116726 chr1 12774841 12777906 + PRAMEF12 protein_coding 390999 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000116729 chr1 68098473 68233120 - WLS protein_coding 79971 GO:0070062, GO:0032839, GO:0032590, GO:0031901, GO:0031410, GO:0031301, GO:0030666, GO:0012505, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005794, GO:0005789, GO:0005783, GO:0005769, GO:0000139, extracellular exosome, dendrite cytoplasm, dendrite membrane, early endosome membrane, cytoplasmic vesicle, integral component of organelle membrane, endocytic vesicle membrane, endomembrane system, plasma membrane, plasma membrane, cytosol, trans-Golgi network, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, early endosome, Golgi membrane, GO:0031852, GO:0017147, GO:0017147, GO:0017147, GO:0005515, mu-type opioid receptor binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, protein binding, GO:0090263, GO:0061357, GO:0061357, GO:0061355, GO:0061355, GO:0043123, GO:0031017, GO:0030902, GO:0030901, GO:0030177, GO:0016055, GO:0016055, GO:0009948, GO:0006886, GO:0006886, GO:0001707, positive regulation of canonical Wnt signaling pathway, positive regulation of Wnt protein secretion, positive regulation of Wnt protein secretion, Wnt protein secretion, Wnt protein secretion, positive regulation of I-kappaB kinase/NF-kappaB signaling, exocrine pancreas development, hindbrain development, midbrain development, positive regulation of Wnt signaling pathway, Wnt signaling pathway, Wnt signaling pathway, anterior/posterior axis specification, intracellular protein transport, intracellular protein transport, mesoderm formation, 2264 806 1162 754 604 581 1156 538 511 ENSG00000116731 chr1 13700198 13825079 + PRDM2 protein_coding This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 7799 GO:0005794, GO:0005654, GO:0005634, GO:0005634, GO:0005634, Golgi apparatus, nucleoplasm, nucleus, nucleus, nucleus, GO:0043565, GO:0008270, GO:0008168, GO:0003700, GO:0001228, GO:0001228, GO:0001227, GO:0000981, GO:0000977, GO:0000977, sequence-specific DNA binding, zinc ion binding, methyltransferase activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0032259, GO:0010468, GO:0008340, GO:0006357, GO:0006355, GO:0000122, positive regulation of transcription by RNA polymerase II, methylation, regulation of gene expression, determination of adult lifespan, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1664 1644 2406 1695 1940 2363 2036 1359 1750 ENSG00000116741 chr1 192809039 192812283 + RGS2 protein_coding Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]. 5997 GO:0043005, GO:0009898, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005730, GO:0005634, neuron projection, cytoplasmic side of plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, mitochondrion, cytoplasm, nucleolus, nucleus, GO:0048487, GO:0005516, GO:0005515, GO:0005096, GO:0003924, GO:0001965, beta-tubulin binding, calmodulin binding, protein binding, GTPase activator activity, GTPase activity, G-protein alpha-subunit binding, GO:1900924, GO:0140194, GO:0061052, GO:0060452, GO:0060135, GO:0060087, GO:0055119, GO:0050873, GO:0045744, GO:0045471, GO:0043951, GO:0043547, GO:0043407, GO:0030728, GO:0017148, GO:0010976, GO:0010614, GO:0010519, GO:0008277, GO:0007420, GO:0007283, GO:0007186, GO:0007049, GO:0001975, negative regulation of glycine import across plasma membrane, negative regulation of adenylate cyclase-inhibiting adrenergic receptor signaling pathway involved in heart process, negative regulation of cell growth involved in cardiac muscle cell development, positive regulation of cardiac muscle contraction, maternal process involved in female pregnancy, relaxation of vascular associated smooth muscle, relaxation of cardiac muscle, brown fat cell differentiation, negative regulation of G protein-coupled receptor signaling pathway, response to ethanol, negative regulation of cAMP-mediated signaling, positive regulation of GTPase activity, negative regulation of MAP kinase activity, ovulation, negative regulation of translation, positive regulation of neuron projection development, negative regulation of cardiac muscle hypertrophy, negative regulation of phospholipase activity, regulation of G protein-coupled receptor signaling pathway, brain development, spermatogenesis, G protein-coupled receptor signaling pathway, cell cycle, response to amphetamine, 29957 25911 39463 5618 20767 11584 7693 21030 13281 ENSG00000116745 chr1 68428822 68449959 - RPE65 protein_coding The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]. 6121 GO:0044297, GO:0016020, GO:0005886, GO:0005789, cell body, membrane, plasma membrane, endoplasmic reticulum membrane, GO:1901612, GO:0052885, GO:0052885, GO:0052884, GO:0052884, GO:0050251, GO:0046872, GO:0031210, GO:0016853, GO:0016702, GO:0004744, GO:0001786, cardiolipin binding, all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity, all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity, all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity, all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity, retinol isomerase activity, metal ion binding, phosphatidylcholine binding, isomerase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, retinal isomerase activity, phosphatidylserine binding, GO:1901827, GO:1901827, GO:0071257, GO:0060042, GO:0055114, GO:0050908, GO:0042574, GO:0042572, GO:0008286, GO:0007623, GO:0007601, GO:0006776, GO:0003407, GO:0001895, GO:0001523, GO:0001523, zeaxanthin biosynthetic process, zeaxanthin biosynthetic process, cellular response to electrical stimulus, retina morphogenesis in camera-type eye, oxidation-reduction process, detection of light stimulus involved in visual perception, retinal metabolic process, retinol metabolic process, insulin receptor signaling pathway, circadian rhythm, visual perception, vitamin A metabolic process, neural retina development, retina homeostasis, retinoid metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000116747 chr1 193059422 193091777 + TROVE2 protein_coding 6738 GO:1990904, GO:1990904, GO:0005829, GO:0005654, ribonucleoprotein complex, ribonucleoprotein complex, cytosol, nucleoplasm, GO:0046872, GO:0030620, GO:0003723, GO:0003723, metal ion binding, U2 snRNA binding, RNA binding, RNA binding, GO:0060271, GO:0035457, GO:0010468, GO:0009411, GO:0007224, GO:0006383, GO:0002520, cilium assembly, cellular response to interferon-alpha, regulation of gene expression, response to UV, smoothened signaling pathway, transcription by RNA polymerase III, immune system development, 673 702 867 235 420 372 242 325 288 ENSG00000116748 chr1 114673090 114695618 - AMPD1 protein_coding Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]. 270 GO:0005829, GO:0005829, cytosol, cytosol, GO:0046872, GO:0042802, GO:0032036, GO:0005515, GO:0003876, metal ion binding, identical protein binding, myosin heavy chain binding, protein binding, AMP deaminase activity, GO:0046033, GO:0043101, GO:0032264, GO:0010033, GO:0006188, AMP metabolic process, purine-containing compound salvage, IMP salvage, response to organic substance, IMP biosynthetic process, 0 0 0 0 1 0 0 0 0 ENSG00000116750 chr1 193012250 193060080 - UCHL5 protein_coding 51377 GO:0031011, GO:0031011, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000502, Ino80 complex, Ino80 complex, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, proteasome complex, GO:0070628, GO:0008234, GO:0005515, GO:0004866, GO:0004843, GO:0004843, GO:0004843, GO:0003723, proteasome binding, cysteine-type peptidase activity, protein binding, endopeptidase inhibitor activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, RNA binding, GO:0061136, GO:0045880, GO:0032435, GO:0016579, GO:0016579, GO:0016579, GO:0016579, GO:0010951, GO:0006511, GO:0006310, GO:0006281, regulation of proteasomal protein catabolic process, positive regulation of smoothened signaling pathway, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, negative regulation of endopeptidase activity, ubiquitin-dependent protein catabolic process, DNA recombination, DNA repair, 148 110 196 94 149 170 115 106 105 ENSG00000116752 chr1 114567557 114581639 - BCAS2 protein_coding 10286 GO:0071013, GO:0071007, GO:0016607, GO:0005813, GO:0005730, GO:0005681, GO:0005662, GO:0005654, GO:0005634, GO:0000974, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear speck, centrosome, nucleolus, spliceosomal complex, DNA replication factor A complex, nucleoplasm, nucleus, Prp19 complex, GO:0005515, protein binding, GO:0008380, GO:0000398, GO:0000398, GO:0000375, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 485 490 522 1202 1338 1196 1098 1167 785 ENSG00000116754 chr1 70205682 70253052 + SRSF11 protein_coding This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternative splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.[provided by RefSeq, Sep 2010]. 9295 GO:0016607, GO:0005654, GO:0005654, GO:0005634, nuclear speck, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0031124, GO:0008380, GO:0006406, GO:0006405, GO:0006397, GO:0000398, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splicing, via spliceosome, 1439 1482 1839 1496 1363 1533 1361 986 1135 ENSG00000116761 chr1 70411218 70439851 + CTH protein_coding This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]. 1491 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0080146, GO:0044540, GO:0042802, GO:0030170, GO:0030170, GO:0016846, GO:0005516, GO:0005515, GO:0004123, GO:0004123, L-cysteine desulfhydrase activity, L-cystine L-cysteine-lyase (deaminating), identical protein binding, pyridoxal phosphate binding, pyridoxal phosphate binding, carbon-sulfur lyase activity, calmodulin binding, protein binding, cystathionine gamma-lyase activity, cystathionine gamma-lyase activity, GO:2001234, GO:1990830, GO:1904831, GO:0070814, GO:0070814, GO:0051289, GO:0051092, GO:0044524, GO:0043123, GO:0030968, GO:0019346, GO:0019346, GO:0019346, GO:0019344, GO:0019343, GO:0019343, GO:0018272, GO:0006534, GO:0000098, negative regulation of apoptotic signaling pathway, cellular response to leukemia inhibitory factor, positive regulation of aortic smooth muscle cell differentiation, hydrogen sulfide biosynthetic process, hydrogen sulfide biosynthetic process, protein homotetramerization, positive regulation of NF-kappaB transcription factor activity, protein sulfhydration, positive regulation of I-kappaB kinase/NF-kappaB signaling, endoplasmic reticulum unfolded protein response, transsulfuration, transsulfuration, transsulfuration, cysteine biosynthetic process, cysteine biosynthetic process via cystathionine, cysteine biosynthetic process via cystathionine, protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine, cysteine metabolic process, sulfur amino acid catabolic process, 33 6 20 16 2 24 5 1 20 ENSG00000116771 chr1 15572353 15585110 - AGMAT protein_coding 79814 GO:0005739, mitochondrion, GO:0046872, GO:0008783, GO:0008783, metal ion binding, agmatinase activity, agmatinase activity, GO:0097055, GO:0033389, GO:0008295, agmatine biosynthetic process, putrescine biosynthetic process from arginine, using agmatinase, spermidine biosynthetic process, 4 5 4 12 14 27 20 5 10 ENSG00000116774 chr1 113979391 114035572 + OLFML3 protein_coding This gene encodes a member of the olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 56944 GO:1903561, extracellular vesicle, GO:0007275, multicellular organism development, 2 1 5 2 0 0 0 0 0 ENSG00000116783 chr1 74235401 74544428 + TNNI3K protein_coding This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]. 51086 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0031013, GO:0008022, GO:0005524, GO:0005515, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, troponin I binding, protein C-terminus binding, ATP binding, protein binding, protein kinase activity, GO:1903779, GO:0086069, GO:0055117, GO:0006468, GO:0002027, GO:0002027, regulation of cardiac conduction, bundle of His cell to Purkinje myocyte communication, regulation of cardiac muscle contraction, protein phosphorylation, regulation of heart rate, regulation of heart rate, 0 0 0 0 0 0 0 0 0 ENSG00000116785 chr1 196774795 196795406 + CFHR3 protein_coding The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 10878 GO:0072562, GO:0070062, GO:0005615, blood microparticle, extracellular exosome, extracellular space, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000116786 chr1 15684332 15734769 + PLEKHM2 protein_coding This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]. 23207 GO:0010008, GO:0010008, endosome membrane, endosome membrane, GO:0019894, GO:0019894, GO:0005515, kinesin binding, kinesin binding, protein binding, GO:1903527, GO:1903527, GO:0032880, GO:0032880, GO:0032418, GO:0032418, GO:0007030, GO:0007030, positive regulation of membrane tubulation, positive regulation of membrane tubulation, regulation of protein localization, regulation of protein localization, lysosome localization, lysosome localization, Golgi organization, Golgi organization, 1666 1754 2411 1222 1419 1414 1442 1065 1076 ENSG00000116791 chr1 74705482 74733408 - CRYZ protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]. 1429 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0070404, GO:0070402, GO:0070402, GO:0042802, GO:0008270, GO:0003960, GO:0003960, GO:0003730, GO:0003730, NADH binding, NADPH binding, NADPH binding, identical protein binding, zinc ion binding, NADPH:quinone reductase activity, NADPH:quinone reductase activity, mRNA 3'-UTR binding, mRNA 3'-UTR binding, GO:0055114, GO:0051289, GO:0042178, GO:0007601, oxidation-reduction process, protein homotetramerization, xenobiotic catabolic process, visual perception, 6 3 9 30 10 51 16 7 30 ENSG00000116793 chr1 113696831 113759489 - PHTF1 protein_coding 10745 GO:0005801, GO:0005634, cis-Golgi network, nucleus, GO:0003677, DNA binding, 566 516 725 397 607 693 552 387 479 ENSG00000116809 chr1 15941869 15976132 - ZBTB17 protein_coding This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]. 7709 GO:0032993, GO:0032991, GO:0005654, GO:0005654, protein-DNA complex, protein-containing complex, nucleoplasm, nucleoplasm, GO:0046872, GO:0008134, GO:0005515, GO:0003700, GO:0001228, GO:0001228, GO:0001227, GO:0001223, GO:0001046, GO:0000978, GO:0000978, metal ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription coactivator binding, core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071158, GO:0045944, GO:0045944, GO:0045786, GO:0036498, GO:0008285, GO:0007398, GO:0006357, GO:0001702, GO:0000122, positive regulation of cell cycle arrest, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of cell cycle, IRE1-mediated unfolded protein response, negative regulation of cell population proliferation, ectoderm development, regulation of transcription by RNA polymerase II, gastrulation with mouth forming second, negative regulation of transcription by RNA polymerase II, 466 454 578 341 484 367 416 422 342 ENSG00000116815 chr1 116514535 116571039 - CD58 protein_coding This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a ligand of the T lymphocyte CD2 protein, and functions in adhesion and activation of T lymphocytes. The protein is localized to the plasma membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. 965 GO:0101003, GO:0070062, GO:0030667, GO:0016020, GO:0009986, GO:0009986, GO:0005887, GO:0005886, ficolin-1-rich granule membrane, extracellular exosome, secretory granule membrane, membrane, cell surface, cell surface, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005102, GO:0005102, protein binding, signaling receptor binding, signaling receptor binding, GO:0098609, GO:0071356, GO:0071346, GO:0050900, GO:0043312, GO:0034113, GO:0032757, cell-cell adhesion, cellular response to tumor necrosis factor, cellular response to interferon-gamma, leukocyte migration, neutrophil degranulation, heterotypic cell-cell adhesion, positive regulation of interleukin-8 production, 753 516 1717 260 524 463 396 391 533 ENSG00000116819 chr1 35573370 35595328 + TFAP2E protein_coding 339488 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048856, GO:0045944, GO:0042127, GO:0006357, anatomical structure development, positive regulation of transcription by RNA polymerase II, regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 5 7 6 8 9 8 15 8 15 ENSG00000116824 chr1 116754385 116769228 + CD2 protein_coding The protein encoded by this gene is a surface antigen found on all peripheral blood T-cells. The encoded protein interacts with LFA3 (CD58) on antigen presenting cells to optimize immune recognition. A locus control region (LCR) has been found in the 3' flanking sequence of this gene. [provided by RefSeq, Jun 2016]. 914 GO:0046658, GO:0045121, GO:0032991, GO:0009986, GO:0009898, GO:0009897, GO:0005911, GO:0005887, GO:0005886, GO:0005576, anchored component of plasma membrane, membrane raft, protein-containing complex, cell surface, cytoplasmic side of plasma membrane, external side of plasma membrane, cell-cell junction, integral component of plasma membrane, plasma membrane, extracellular region, GO:0043621, GO:0042802, GO:0038023, GO:0030971, GO:0005515, GO:0005102, protein self-association, identical protein binding, signaling receptor activity, receptor tyrosine kinase binding, protein binding, signaling receptor binding, GO:0098609, GO:0050900, GO:0045580, GO:0042110, GO:0034113, GO:0032760, GO:0032757, GO:0032729, GO:0030887, GO:0030101, GO:0007166, GO:0006915, GO:0001766, cell-cell adhesion, leukocyte migration, regulation of T cell differentiation, T cell activation, heterotypic cell-cell adhesion, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interferon-gamma production, positive regulation of myeloid dendritic cell activation, natural killer cell activation, cell surface receptor signaling pathway, apoptotic process, membrane raft polarization, 123 74 307 388 148 524 317 119 399 ENSG00000116830 chr1 117060303 117107453 + TTF2 protein_coding This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]. 8458 GO:0008023, GO:0005829, GO:0005681, transcription elongation factor complex, cytosol, spliceosomal complex, GO:0008270, GO:0008094, GO:0005524, GO:0005515, GO:0004386, GO:0003677, zinc ion binding, DNA-dependent ATPase activity, ATP binding, protein binding, helicase activity, DNA binding, GO:0008380, GO:0006397, GO:0006369, GO:0006353, RNA splicing, mRNA processing, termination of RNA polymerase II transcription, DNA-templated transcription, termination, 26 79 178 59 95 155 50 74 113 ENSG00000116833 chr1 200027602 200177424 + NR5A2 protein_coding The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]. 2494 GO:0090575, GO:0090575, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0008270, GO:0005543, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, zinc ion binding, phospholipid binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990830, GO:0097720, GO:0061113, GO:0045944, GO:0045944, GO:0045893, GO:0045070, GO:0042632, GO:0042592, GO:0042127, GO:0030855, GO:0030522, GO:0009888, GO:0009792, GO:0009755, GO:0008206, GO:0006367, GO:0006357, GO:0006355, GO:0006355, cellular response to leukemia inhibitory factor, calcineurin-mediated signaling, pancreas morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of viral genome replication, cholesterol homeostasis, homeostatic process, regulation of cell population proliferation, epithelial cell differentiation, intracellular receptor signaling pathway, tissue development, embryo development ending in birth or egg hatching, hormone-mediated signaling pathway, bile acid metabolic process, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 1 0 1 0 2 0 0 0 0 ENSG00000116852 chr1 200969390 201023700 - KIF21B protein_coding This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 23046 GO:0031410, GO:0030426, GO:0030425, GO:0005874, GO:0005871, cytoplasmic vesicle, growth cone, dendrite, microtubule, kinesin complex, GO:0016887, GO:0008017, GO:0005524, GO:0003777, ATPase activity, microtubule binding, ATP binding, microtubule motor activity, GO:0007018, microtubule-based movement, 1945 1853 2502 1132 1654 1335 1543 1348 1249 ENSG00000116857 chr1 201134772 201171574 - TMEM9 protein_coding 252839 GO:0032585, GO:0016021, GO:0005770, GO:0005765, GO:0005764, multivesicular body membrane, integral component of membrane, late endosome, lysosomal membrane, lysosome, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0090263, GO:0070070, GO:0048388, GO:0042176, GO:0015031, GO:0007042, positive regulation of canonical Wnt signaling pathway, proton-transporting V-type ATPase complex assembly, endosomal lumen acidification, regulation of protein catabolic process, protein transport, lysosomal lumen acidification, 10 9 84 28 15 51 9 16 63 ENSG00000116863 chr1 36088875 36093932 + ADPRHL2 protein_coding This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]. 54936 GO:0090734, GO:0016604, GO:0005759, GO:0005739, GO:0005654, GO:0005634, GO:0005634, site of DNA damage, nuclear body, mitochondrial matrix, mitochondrion, nucleoplasm, nucleus, nucleus, GO:0140292, GO:0061463, GO:0005515, GO:0004649, GO:0004649, GO:0004553, GO:0000287, ADP-ribosylserine hydrolase activity, O-acetyl-ADP-ribose deacetylase activity, protein binding, poly(ADP-ribose) glycohydrolase activity, poly(ADP-ribose) glycohydrolase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, magnesium ion binding, GO:0140290, GO:0071451, GO:0006281, peptidyl-serine ADP-deribosylation, cellular response to superoxide, DNA repair, 55 52 62 63 98 48 70 81 49 ENSG00000116871 chr1 36155579 36180849 + MAP7D1 protein_coding 55700 GO:0015630, GO:0015630, GO:0005829, GO:0005819, microtubule cytoskeleton, microtubule cytoskeleton, cytosol, spindle, GO:0000226, microtubule cytoskeleton organization, 5072 4556 7595 2411 3138 3592 2539 2770 3438 ENSG00000116874 chr1 119031216 119140671 - WARS2 protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 10352 GO:0005886, GO:0005759, GO:0005759, GO:0005759, GO:0005739, GO:0005739, plasma membrane, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, GO:0005524, GO:0004830, GO:0004830, ATP binding, tryptophan-tRNA ligase activity, tryptophan-tRNA ligase activity, GO:0070183, GO:0006436, GO:0006418, GO:0001570, mitochondrial tryptophanyl-tRNA aminoacylation, tryptophanyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, vasculogenesis, 7 1 15 27 15 10 25 2 21 ENSG00000116882 chr1 119368779 119394130 + HAO2 protein_coding This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 51179 GO:0005829, GO:0005782, GO:0005777, cytosol, peroxisomal matrix, peroxisome, GO:0052854, GO:0052853, GO:0052852, GO:0010181, GO:0005515, GO:0003973, medium-chain-(S)-2-hydroxy-acid oxidase activity, long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity, very-long-chain-(S)-2-hydroxy-acid oxidase activity, FMN binding, protein binding, (S)-2-hydroxy-acid oxidase activity, GO:0019395, GO:0009062, GO:0006625, fatty acid oxidation, fatty acid catabolic process, protein targeting to peroxisome, 0 0 0 0 0 0 0 0 0 ENSG00000116883 chr1 36323734 36329221 + AL591845.1 antisense 8 8 16 20 33 50 27 39 56 ENSG00000116885 chr1 36415827 36450451 - OSCP1 protein_coding 127700 GO:0009925, GO:0005737, basal plasma membrane, cytoplasm, GO:0022857, transmembrane transporter activity, GO:1990961, xenobiotic detoxification by transmembrane export across the plasma membrane, 13 16 9 9 20 7 22 11 21 ENSG00000116898 chr1 36455718 36464437 - MRPS15 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008]. 64960 GO:0005763, GO:0005743, GO:0005739, GO:0005730, GO:0005654, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleolus, nucleoplasm, GO:0003735, GO:0003735, GO:0003723, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 286 247 287 649 713 704 694 438 535 ENSG00000116903 chr1 231332753 231337852 - EXOC8 protein_coding This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]. 149371 GO:0048471, GO:0030426, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005770, GO:0000145, GO:0000145, perinuclear region of cytoplasm, growth cone, membrane, plasma membrane, cytosol, cytosol, late endosome, exocyst, exocyst, GO:0035091, GO:0031267, GO:0031267, GO:0005515, phosphatidylinositol binding, small GTPase binding, small GTPase binding, protein binding, GO:0022617, GO:0016241, GO:0015031, GO:0008104, GO:0007032, GO:0006893, GO:0006887, extracellular matrix disassembly, regulation of macroautophagy, protein transport, protein localization, endosome organization, Golgi to plasma membrane transport, exocytosis, 1200 1049 1334 336 793 709 542 628 716 ENSG00000116906 chr1 231241207 231277973 + GNPAT protein_coding This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 8443 GO:0031966, GO:0016020, GO:0005829, GO:0005782, GO:0005778, GO:0005778, GO:0005778, GO:0005777, GO:0005777, mitochondrial membrane, membrane, cytosol, peroxisomal matrix, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, peroxisome, GO:0016290, GO:0016287, GO:0016287, GO:0016287, palmitoyl-CoA hydrolase activity, glycerone-phosphate O-acyltransferase activity, glycerone-phosphate O-acyltransferase activity, glycerone-phosphate O-acyltransferase activity, GO:0070542, GO:0061024, GO:0042594, GO:0042493, GO:0030913, GO:0021587, GO:0008654, GO:0008611, GO:0008611, GO:0008611, GO:0007584, GO:0007416, GO:0006654, GO:0006631, GO:0006625, response to fatty acid, membrane organization, response to starvation, response to drug, paranodal junction assembly, cerebellum morphogenesis, phospholipid biosynthetic process, ether lipid biosynthetic process, ether lipid biosynthetic process, ether lipid biosynthetic process, response to nutrient, synapse assembly, phosphatidic acid biosynthetic process, fatty acid metabolic process, protein targeting to peroxisome, 102 106 103 161 153 146 142 137 146 ENSG00000116918 chr1 231528653 231566524 + TSNAX protein_coding This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008]. 7257 GO:0048471, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005634, perinuclear region of cytoplasm, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, GO:0046872, GO:0044877, GO:0043565, GO:0031687, GO:0004521, GO:0003723, GO:0003697, GO:0003677, metal ion binding, protein-containing complex binding, sequence-specific DNA binding, A2A adenosine receptor binding, endoribonuclease activity, RNA binding, single-stranded DNA binding, DNA binding, GO:0090502, GO:0030422, GO:0030154, GO:0007283, GO:0007275, RNA phosphodiester bond hydrolysis, endonucleolytic, production of siRNA involved in RNA interference, cell differentiation, spermatogenesis, multicellular organism development, 264 322 383 106 222 195 160 201 125 ENSG00000116922 chr1 37681570 37692249 - C1orf109 protein_coding 54955 GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, 8 5 22 16 5 18 26 20 22 ENSG00000116954 chr1 38838198 38859823 - RRAGC protein_coding This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 64121 GO:1990131, GO:0043231, GO:0034448, GO:0005829, GO:0005764, GO:0005764, GO:0005737, GO:0005654, GO:0005634, GO:0005634, Gtr1-Gtr2 GTPase complex, intracellular membrane-bounded organelle, EGO complex, cytosol, lysosome, lysosome, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0051020, GO:0046982, GO:0019003, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0000287, GTPase binding, protein heterodimerization activity, GDP binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, magnesium ion binding, GO:1903432, GO:0071230, GO:0071230, GO:0043200, GO:0034613, GO:0034198, GO:0032008, GO:0032006, GO:0016241, GO:0010506, GO:0009267, GO:0008380, GO:0007264, GO:0007050, GO:0006915, GO:0006351, regulation of TORC1 signaling, cellular response to amino acid stimulus, cellular response to amino acid stimulus, response to amino acid, cellular protein localization, cellular response to amino acid starvation, positive regulation of TOR signaling, regulation of TOR signaling, regulation of macroautophagy, regulation of autophagy, cellular response to starvation, RNA splicing, small GTPase mediated signal transduction, cell cycle arrest, apoptotic process, transcription, DNA-templated, 286 331 319 2795 2812 2547 2123 1494 1598 ENSG00000116962 chr1 235975830 236065162 - NID1 protein_coding This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]. 4811 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0005886, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, plasma membrane, basement membrane, extracellular region, GO:0043394, GO:0043237, GO:0043236, GO:0005518, GO:0005509, GO:0005201, GO:0005201, proteoglycan binding, laminin-1 binding, laminin binding, collagen binding, calcium ion binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0071711, GO:0032836, GO:0030198, GO:0010811, GO:0007160, basement membrane organization, glomerular basement membrane development, extracellular matrix organization, positive regulation of cell-substrate adhesion, cell-matrix adhesion, 1 4 1 2 3 0 11 5 11 ENSG00000116977 chr1 236518000 236552981 + LGALS8 protein_coding This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 3964 GO:0031410, GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005615, cytoplasmic vesicle, membrane, cytosol, cytoplasm, cytoplasm, extracellular space, GO:0030246, GO:0030246, GO:0005515, GO:0005178, GO:0005178, carbohydrate binding, carbohydrate binding, protein binding, integrin binding, integrin binding, GO:1904977, GO:1904977, GO:0098792, GO:0098586, lymphatic endothelial cell migration, lymphatic endothelial cell migration, xenophagy, cellular response to virus, 567 552 681 620 583 792 635 477 554 ENSG00000116981 chr1 39659121 39672038 - NT5C1A protein_coding Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]. 84618 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0008253, GO:0008253, GO:0005515, GO:0000287, GO:0000166, 5'-nucleotidase activity, 5'-nucleotidase activity, protein binding, magnesium ion binding, nucleotide binding, GO:0046135, GO:0046085, GO:0016311, GO:0009128, GO:0009116, GO:0006195, pyrimidine nucleoside catabolic process, adenosine metabolic process, dephosphorylation, purine nucleoside monophosphate catabolic process, nucleoside metabolic process, purine nucleotide catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000116983 chr1 39678648 39691689 - HPCAL4 protein_coding The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 51440 GO:0019904, GO:0008022, GO:0005515, GO:0005509, GO:0005246, protein domain specific binding, protein C-terminus binding, protein binding, calcium ion binding, calcium channel regulator activity, GO:0007417, GO:0007165, central nervous system development, signal transduction, 30 21 34 55 11 30 47 16 26 ENSG00000116984 chr1 236795281 236903981 + MTR protein_coding This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]. 4548 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0031419, GO:0008705, GO:0008705, GO:0008705, GO:0008270, GO:0005515, cobalamin binding, methionine synthase activity, methionine synthase activity, methionine synthase activity, zinc ion binding, protein binding, GO:0071732, GO:0048678, GO:0042558, GO:0032259, GO:0031103, GO:0009235, GO:0009235, GO:0009086, GO:0007399, GO:0000096, cellular response to nitric oxide, response to axon injury, pteridine-containing compound metabolic process, methylation, axon regeneration, cobalamin metabolic process, cobalamin metabolic process, methionine biosynthetic process, nervous system development, sulfur amino acid metabolic process, 69 59 159 189 50 191 179 34 126 ENSG00000116985 chr1 39757182 39788861 - BMP8B protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]. 656 GO:0005615, extracellular space, GO:0070700, GO:0008083, GO:0005125, BMP receptor binding, growth factor activity, cytokine activity, GO:0060395, GO:0051216, GO:0030509, GO:0030154, GO:0010862, GO:0001503, GO:0001501, SMAD protein signal transduction, cartilage development, BMP signaling pathway, cell differentiation, positive regulation of pathway-restricted SMAD protein phosphorylation, ossification, skeletal system development, 3 0 3 3 21 20 10 1 3 ENSG00000116990 chr1 39895426 39902256 - MYCL protein_coding 4610 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:0046983, GO:0003677, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045607, GO:0006357, regulation of inner ear auditory receptor cell differentiation, regulation of transcription by RNA polymerase II, 22 13 75 6 17 8 9 15 5 ENSG00000116991 chr1 232397965 232561558 - SIPA1L2 protein_coding This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]. 57568 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0005096, GO:0005096, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0051056, GO:0043547, GO:0008150, activation of GTPase activity, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, biological_process, 793 1199 1114 355 868 543 412 700 403 ENSG00000116996 chr1 237877864 237890922 - ZP4 protein_coding The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. [provided by RefSeq, Jul 2008]. 57829 GO:0035805, GO:0016021, GO:0005886, GO:0005576, egg coat, integral component of membrane, plasma membrane, extracellular region, GO:0042802, GO:0032190, GO:0005515, identical protein binding, acrosin binding, protein binding, GO:2000360, GO:2000344, GO:0060478, GO:0042102, GO:0007339, GO:0002922, negative regulation of binding of sperm to zona pellucida, positive regulation of acrosome reaction, acrosomal vesicle exocytosis, positive regulation of T cell proliferation, binding of sperm to zona pellucida, positive regulation of humoral immune response, 0 0 0 0 0 0 0 0 0 ENSG00000117000 chr1 40161373 40240921 + RLF protein_coding 6018 GO:0005634, GO:0005634, nucleus, nucleus, GO:0008270, GO:0005515, GO:0003677, GO:0003677, GO:0000981, zinc ion binding, protein binding, DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0097692, GO:0051276, GO:0045944, GO:0045893, GO:0044030, GO:0006357, GO:0006355, histone H3-K4 monomethylation, chromosome organization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of DNA methylation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2577 2339 3447 1727 1783 2182 1561 1151 1445 ENSG00000117009 chr1 241532134 241595642 + KMO protein_coding This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011]. 8564 GO:0016021, GO:0005829, GO:0005741, GO:0005741, GO:0005615, integral component of membrane, cytosol, mitochondrial outer membrane, mitochondrial outer membrane, extracellular space, GO:0071949, GO:0050660, GO:0050660, GO:0016174, GO:0016174, GO:0004502, GO:0004502, GO:0004502, FAD binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, NAD(P)H oxidase H2O2-forming activity, NAD(P)H oxidase H2O2-forming activity, kynurenine 3-monooxygenase activity, kynurenine 3-monooxygenase activity, kynurenine 3-monooxygenase activity, GO:1903296, GO:1901216, GO:0097052, GO:0071347, GO:0071222, GO:0070189, GO:0070189, GO:0055114, GO:0043420, GO:0034354, GO:0034276, GO:0019805, GO:0019674, GO:0019674, GO:0009651, GO:0007568, GO:0006569, positive regulation of glutamate secretion, neurotransmission, positive regulation of neuron death, L-kynurenine metabolic process, cellular response to interleukin-1, cellular response to lipopolysaccharide, kynurenine metabolic process, kynurenine metabolic process, oxidation-reduction process, anthranilate metabolic process, 'de novo' NAD biosynthetic process from tryptophan, kynurenic acid biosynthetic process, quinolinate biosynthetic process, NAD metabolic process, NAD metabolic process, response to salt stress, aging, tryptophan catabolic process, 7 13 8 19 19 15 23 11 21 ENSG00000117010 chr1 40531561 40548169 + ZNF684 protein_coding 127396 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0001227, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 10 7 19 22 9 29 22 7 8 ENSG00000117013 chr1 40783814 40840452 + KCNQ4 protein_coding The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9132 GO:0016021, GO:0009925, GO:0008076, GO:0005886, integral component of membrane, basal plasma membrane, voltage-gated potassium channel complex, plasma membrane, GO:0005516, GO:0005515, GO:0005267, GO:0005251, GO:0005249, calmodulin binding, protein binding, potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0042472, GO:0034765, GO:0007605, GO:0006813, potassium ion transmembrane transport, inner ear morphogenesis, regulation of ion transmembrane transport, sensory perception of sound, potassium ion transport, 4 0 1 0 5 0 2 4 0 ENSG00000117016 chr1 40620679 40665657 - RIMS3 protein_coding 9783 GO:0048788, GO:0048786, GO:0042734, cytoskeleton of presynaptic active zone, presynaptic active zone, presynaptic membrane, GO:0044325, GO:0044325, GO:0031267, GO:0005515, ion channel binding, ion channel binding, small GTPase binding, protein binding, GO:2000300, GO:2000300, GO:0050806, GO:0048791, GO:0048167, GO:0042391, GO:0042391, GO:0017156, regulation of synaptic vesicle exocytosis, regulation of synaptic vesicle exocytosis, positive regulation of synaptic transmission, calcium ion-regulated exocytosis of neurotransmitter, regulation of synaptic plasticity, regulation of membrane potential, regulation of membrane potential, calcium-ion regulated exocytosis, 2 4 8 6 2 4 2 1 4 ENSG00000117020 chr1 243488233 243851079 - AKT3 protein_coding The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 10000 GO:0016020, GO:0005737, GO:0005634, membrane, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000773, GO:1905653, GO:1905564, GO:0090050, GO:0048873, GO:0048854, GO:0045793, GO:0043536, GO:0035556, GO:0032008, GO:0018105, GO:0007165, GO:0006468, GO:0001938, GO:0000002, negative regulation of cellular senescence, positive regulation of artery morphogenesis, positive regulation of vascular endothelial cell proliferation, positive regulation of cell migration involved in sprouting angiogenesis, homeostasis of number of cells within a tissue, brain morphogenesis, positive regulation of cell size, positive regulation of blood vessel endothelial cell migration, intracellular signal transduction, positive regulation of TOR signaling, peptidyl-serine phosphorylation, signal transduction, protein phosphorylation, positive regulation of endothelial cell proliferation, mitochondrial genome maintenance, 6 4 10 11 3 13 11 4 6 ENSG00000117036 chr1 157121191 157138474 - ETV3 protein_coding 2117 GO:0090571, GO:0005634, GO:0000785, RNA polymerase II transcription repressor complex, nucleus, chromatin, GO:1990837, GO:0017151, GO:0001227, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, DEAD/H-box RNA helicase binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0097011, GO:0030154, GO:0008285, GO:0008150, GO:0006357, GO:0000122, cellular response to granulocyte macrophage colony-stimulating factor stimulus, cell differentiation, negative regulation of cell population proliferation, biological_process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 622 597 603 1076 549 814 951 437 710 ENSG00000117054 chr1 75724347 75787575 + ACADM protein_coding This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 34 GO:0031966, GO:0030424, GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005634, mitochondrial membrane, axon, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0070991, GO:0070991, GO:0050660, GO:0042802, GO:0003995, GO:0003995, medium-chain-acyl-CoA dehydrogenase activity, medium-chain-acyl-CoA dehydrogenase activity, flavin adenine dinucleotide binding, identical protein binding, acyl-CoA dehydrogenase activity, acyl-CoA dehydrogenase activity, GO:0055114, GO:0051793, GO:0051793, GO:0051791, GO:0045329, GO:0033539, GO:0033539, GO:0019254, GO:0019216, GO:0006635, GO:0006635, GO:0006635, oxidation-reduction process, medium-chain fatty acid catabolic process, medium-chain fatty acid catabolic process, medium-chain fatty acid metabolic process, carnitine biosynthetic process, fatty acid beta-oxidation using acyl-CoA dehydrogenase, fatty acid beta-oxidation using acyl-CoA dehydrogenase, carnitine metabolic process, CoA-linked, regulation of lipid metabolic process, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, 20 19 37 77 36 59 65 31 46 ENSG00000117069 chr1 76867441 77065711 + ST6GALNAC5 protein_coding The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 81849 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008373, GO:0001665, GO:0001665, sialyltransferase activity, alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity, alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity, GO:0009312, GO:0009311, GO:0006688, GO:0006486, GO:0001574, oligosaccharide biosynthetic process, oligosaccharide metabolic process, glycosphingolipid biosynthetic process, protein glycosylation, ganglioside biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000117090 chr1 160608100 160647295 - SLAMF1 protein_coding 6504 GO:0070062, GO:0016021, GO:0009986, GO:0005886, extracellular exosome, integral component of membrane, cell surface, plasma membrane, GO:0042802, GO:0042169, GO:0005515, GO:0004888, GO:0003823, GO:0001618, identical protein binding, SH2 domain binding, protein binding, transmembrane signaling receptor activity, antigen binding, virus receptor activity, GO:2000349, GO:0070374, GO:0046718, GO:0046649, GO:0046330, GO:0045087, GO:0032720, GO:0032715, GO:0032695, GO:0008284, GO:0007155, GO:0006909, GO:0002277, GO:0002250, negative regulation of CD40 signaling pathway, positive regulation of ERK1 and ERK2 cascade, viral entry into host cell, lymphocyte activation, positive regulation of JNK cascade, innate immune response, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-12 production, positive regulation of cell population proliferation, cell adhesion, phagocytosis, myeloid dendritic cell activation involved in immune response, adaptive immune response, 42 16 64 80 22 162 94 32 71 ENSG00000117091 chr1 160678746 160711851 - CD48 protein_coding This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 962 GO:0070062, GO:0045121, GO:0031226, GO:0031225, GO:0016020, GO:0005886, extracellular exosome, membrane raft, intrinsic component of plasma membrane, anchored component of membrane, membrane, plasma membrane, GO:0038023, GO:0005515, GO:0003823, signaling receptor activity, protein binding, antigen binding, GO:0050900, GO:0006952, GO:0002819, leukocyte migration, defense response, regulation of adaptive immune response, 761 692 1941 1108 697 1448 1323 851 1362 ENSG00000117114 chr1 81306160 81992436 + ADGRL2 protein_coding This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 23266 GO:0043005, GO:0016021, GO:0005887, neuron projection, integral component of membrane, integral component of plasma membrane, GO:0030246, GO:0016524, GO:0004930, carbohydrate binding, latrotoxin receptor activity, G protein-coupled receptor activity, GO:0007420, GO:0007189, GO:0007186, GO:0007166, brain development, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000117115 chr1 17066761 17119435 - PADI2 protein_coding This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]. 11240 GO:0070062, GO:0035578, GO:0035327, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005576, extracellular exosome, azurophil granule lumen, transcriptionally active chromatin, cytosol, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0042803, GO:0030331, GO:0005509, GO:0004668, GO:0004668, protein homodimerization activity, estrogen receptor binding, calcium ion binding, protein-arginine deiminase activity, protein-arginine deiminase activity, GO:1990830, GO:1901624, GO:0070100, GO:0048096, GO:0043312, GO:0036414, GO:0036413, GO:0030520, GO:0021762, GO:0018101, GO:0010848, GO:0006325, cellular response to leukemia inhibitory factor, negative regulation of lymphocyte chemotaxis, negative regulation of chemokine-mediated signaling pathway, chromatin-mediated maintenance of transcription, neutrophil degranulation, histone citrullination, histone H3-R26 citrullination, intracellular estrogen receptor signaling pathway, substantia nigra development, protein citrullination, regulation of chromatin disassembly, chromatin organization, 1295 2996 1888 877 3129 1566 1200 2340 1420 ENSG00000117118 chr1 17018722 17054170 - SDHB protein_coding Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]. 6390 GO:0031966, GO:0005886, GO:0005749, GO:0005743, GO:0005743, GO:0005739, GO:0005654, mitochondrial membrane, plasma membrane, mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0051539, GO:0051538, GO:0051537, GO:0048039, GO:0046872, GO:0009055, GO:0008177, GO:0005515, 4 iron, 4 sulfur cluster binding, 3 iron, 4 sulfur cluster binding, 2 iron, 2 sulfur cluster binding, ubiquinone binding, metal ion binding, electron transfer activity, succinate dehydrogenase (ubiquinone) activity, protein binding, GO:0022904, GO:0009060, GO:0006105, GO:0006099, GO:0006099, respiratory electron transport chain, aerobic respiration, succinate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, 522 477 592 205 418 252 269 366 212 ENSG00000117122 chr1 16974502 16980835 - MFAP2 protein_coding Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 4237 GO:0062023, GO:0005576, GO:0001527, GO:0001527, collagen-containing extracellular matrix, extracellular region, microfibril, microfibril, GO:0005515, GO:0005201, protein binding, extracellular matrix structural constituent, GO:0120162, GO:0048050, GO:0048048, GO:0048048, GO:0030198, positive regulation of cold-induced thermogenesis, post-embryonic eye morphogenesis, embryonic eye morphogenesis, embryonic eye morphogenesis, extracellular matrix organization, 0 0 0 0 0 0 0 0 0 ENSG00000117133 chr1 84479259 84497790 + RPF1 protein_coding 80135 GO:0030687, GO:0005730, GO:0005730, preribosome, large subunit precursor, nucleolus, nucleolus, GO:0019843, GO:0005515, GO:0003723, GO:0003723, rRNA binding, protein binding, RNA binding, RNA binding, GO:0006364, GO:0000470, GO:0000460, rRNA processing, maturation of LSU-rRNA, maturation of 5.8S rRNA, 72 67 105 146 79 109 83 63 100 ENSG00000117139 chr1 202724495 202809470 - KDM5B protein_coding This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 10765 GO:0035097, GO:0005829, GO:0005654, GO:0005654, GO:0005634, histone methyltransferase complex, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:1990837, GO:0051213, GO:0042393, GO:0034648, GO:0034647, GO:0034647, GO:0034647, GO:0032453, GO:0032453, GO:0032452, GO:0008270, GO:0008270, GO:0005515, GO:0003714, GO:0003677, sequence-specific double-stranded DNA binding, dioxygenase activity, histone binding, histone demethylase activity (H3-dimethyl-K4 specific), histone demethylase activity (H3-trimethyl-K4 specific), histone demethylase activity (H3-trimethyl-K4 specific), histone demethylase activity (H3-trimethyl-K4 specific), histone demethylase activity (H3-K4 specific), histone demethylase activity (H3-K4 specific), histone demethylase activity, zinc ion binding, zinc ion binding, protein binding, transcription corepressor activity, DNA binding, GO:2000864, GO:1990830, GO:0061038, GO:0060763, GO:0060444, GO:0055114, GO:0048511, GO:0045892, GO:0034721, GO:0034720, GO:0034720, GO:0033601, GO:0010628, GO:0009791, GO:0007338, GO:0006357, GO:0006338, regulation of estradiol secretion, cellular response to leukemia inhibitory factor, uterus morphogenesis, mammary duct terminal end bud growth, branching involved in mammary gland duct morphogenesis, oxidation-reduction process, rhythmic process, negative regulation of transcription, DNA-templated, histone H3-K4 demethylation, trimethyl-H3-K4-specific, histone H3-K4 demethylation, histone H3-K4 demethylation, positive regulation of mammary gland epithelial cell proliferation, positive regulation of gene expression, post-embryonic development, single fertilization, regulation of transcription by RNA polymerase II, chromatin remodeling, 1372 1531 1606 1464 1611 1709 1550 1167 1320 ENSG00000117143 chr1 162561506 162599842 + UAP1 protein_coding 6675 GO:0005886, GO:0005829, GO:0005829, GO:0005654, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0052630, GO:0042802, GO:0030246, GO:0003977, UDP-N-acetylgalactosamine diphosphorylase activity, identical protein binding, carbohydrate binding, UDP-N-acetylglucosamine diphosphorylase activity, GO:0006048, GO:0006048, GO:0006048, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, 284 256 392 179 233 268 236 174 215 ENSG00000117148 chr1 17755313 17827063 + ACTL8 protein_coding 81569 GO:0005869, GO:0005737, dynactin complex, cytoplasm, GO:0005515, protein binding, GO:0030855, epithelial cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000117151 chr1 84549606 84574480 - CTBS protein_coding Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]. 1486 GO:0005764, GO:0005615, lysosome, extracellular space, GO:0008061, GO:0004568, chitin binding, chitinase activity, GO:0009313, GO:0006032, oligosaccharide catabolic process, chitin catabolic process, 2573 2025 2769 473 989 717 772 1000 732 ENSG00000117152 chr1 163068775 163076802 + RGS4 protein_coding Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 5999 GO:0032991, GO:0005886, GO:0005829, GO:0005737, GO:0005634, protein-containing complex, plasma membrane, cytosol, cytoplasm, nucleus, GO:0005516, GO:0005096, GO:0003924, GO:0001965, calmodulin binding, GTPase activator activity, GTPase activity, G-protein alpha-subunit binding, GO:2000463, GO:1990791, GO:1901380, GO:1900924, GO:0110053, GO:0061052, GO:0060160, GO:0051924, GO:0045744, GO:0045471, GO:0043547, GO:0043278, GO:0042220, GO:0010460, GO:0008277, GO:0007420, GO:0007186, GO:0001975, GO:0000188, positive regulation of excitatory postsynaptic potential, dorsal root ganglion development, negative regulation of potassium ion transmembrane transport, negative regulation of glycine import across plasma membrane, regulation of actin filament organization, negative regulation of cell growth involved in cardiac muscle cell development, negative regulation of dopamine receptor signaling pathway, regulation of calcium ion transport, negative regulation of G protein-coupled receptor signaling pathway, response to ethanol, positive regulation of GTPase activity, response to morphine, response to cocaine, positive regulation of heart rate, regulation of G protein-coupled receptor signaling pathway, brain development, G protein-coupled receptor signaling pathway, response to amphetamine, inactivation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000117153 chr1 202891100 202928636 - KLHL12 protein_coding This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 59349 GO:0043231, GO:0034451, GO:0031463, GO:0030134, GO:0030134, GO:0030127, GO:0005829, GO:0000139, intracellular membrane-bounded organelle, centriolar satellite, Cul3-RING ubiquitin ligase complex, COPII-coated ER to Golgi transport vesicle, COPII-coated ER to Golgi transport vesicle, COPII vesicle coat, cytosol, Golgi membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0090090, GO:0048208, GO:0048208, GO:0016055, GO:0014032, GO:0014029, GO:0006888, GO:0006888, GO:0006513, GO:0006513, negative regulation of canonical Wnt signaling pathway, COPII vesicle coating, COPII vesicle coating, Wnt signaling pathway, neural crest cell development, neural crest formation, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein monoubiquitination, protein monoubiquitination, 398 344 453 202 260 255 214 227 188 ENSG00000117154 chr1 18107746 18378483 + IGSF21 protein_coding This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011]. 84966 GO:0060077, GO:0045211, GO:0042734, GO:0031362, GO:0005912, inhibitory synapse, postsynaptic membrane, presynaptic membrane, anchored component of external side of plasma membrane, adherens junction, GO:0060074, GO:0007157, GO:0007156, synapse maturation, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 0 0 0 0 0 0 0 ENSG00000117155 chr1 84643707 84690803 - SSX2IP protein_coding This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]. 117178 GO:0036064, GO:0034451, GO:0032991, GO:0031252, GO:0005912, GO:0005737, GO:0005634, ciliary basal body, centriolar satellite, protein-containing complex, cell leading edge, adherens junction, cytoplasm, nucleus, GO:0019904, GO:0005515, protein domain specific binding, protein binding, GO:2000145, GO:0060271, GO:0035735, GO:0035020, GO:0007155, GO:0007098, regulation of cell motility, cilium assembly, intraciliary transport involved in cilium assembly, regulation of Rac protein signal transduction, cell adhesion, centrosome cycle, 31 23 47 28 23 66 26 12 28 ENSG00000117174 chr1 85649423 85708433 - ZNHIT6 protein_coding 54680 GO:0070761, GO:0070761, GO:0070062, GO:0005634, pre-snoRNP complex, pre-snoRNP complex, extracellular exosome, nucleus, GO:0051117, GO:0046872, GO:0042802, GO:0019899, GO:0005515, GO:0001094, ATPase binding, metal ion binding, identical protein binding, enzyme binding, protein binding, TFIID-class transcription factor complex binding, GO:0051259, GO:0048254, GO:0048254, GO:0000492, GO:0000492, GO:0000463, protein complex oligomerization, snoRNA localization, snoRNA localization, box C/D snoRNP assembly, box C/D snoRNP assembly, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 13 15 30 71 15 43 37 16 46 ENSG00000117215 chr1 20111939 20119566 - PLA2G2D protein_coding This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid ester bond of glycerophospholipids to produce lysophospholipids and free fatty acid. This gene may be involved in inflammation and immune response, and in weight loss associated with chronic obstructive pulmonary disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]. 26279 GO:0005576, extracellular region, GO:0102568, GO:0102567, GO:0047498, GO:0047498, GO:0043395, GO:0008201, GO:0005543, GO:0005509, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, heparan sulfate proteoglycan binding, heparin binding, phospholipid binding, calcium ion binding, GO:0050482, GO:0046470, GO:0046337, GO:0042130, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0016042, GO:0006954, GO:0006654, GO:0006644, GO:0002864, GO:0002361, arachidonic acid secretion, phosphatidylcholine metabolic process, phosphatidylethanolamine metabolic process, negative regulation of T cell proliferation, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, lipid catabolic process, inflammatory response, phosphatidic acid biosynthetic process, phospholipid metabolic process, regulation of acute inflammatory response to antigenic stimulus, CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation, 0 1 0 0 0 0 0 0 0 ENSG00000117222 chr1 205086142 205122015 - RBBP5 protein_coding This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]. 5929 GO:0071339, GO:0048188, GO:0044666, GO:0035097, GO:0035097, GO:0005730, GO:0005654, GO:0005654, GO:0005634, MLL1 complex, Set1C/COMPASS complex, MLL3/4 complex, histone methyltransferase complex, histone methyltransferase complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0042800, GO:0035064, GO:0005515, GO:0000976, histone methyltransferase activity (H3-K4 specific), methylated histone binding, protein binding, transcription regulatory region sequence-specific DNA binding, GO:1904837, GO:0051568, GO:0045652, GO:0043687, GO:0043627, GO:0006974, beta-catenin-TCF complex assembly, histone H3-K4 methylation, regulation of megakaryocyte differentiation, post-translational protein modification, response to estrogen, cellular response to DNA damage stimulus, 337 376 496 192 280 249 181 214 150 ENSG00000117226 chr1 89006666 89022894 - GBP3 protein_coding This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]. 2635 GO:0048471, GO:0031410, GO:0005829, GO:0005737, GO:0000139, perinuclear region of cytoplasm, cytoplasmic vesicle, cytosol, cytoplasm, Golgi membrane, GO:0042803, GO:0005525, GO:0005515, GO:0003924, protein homodimerization activity, GTP binding, protein binding, GTPase activity, GO:0071356, GO:0071347, GO:0071346, GO:0051607, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, defense response to virus, 109 74 169 108 54 167 107 66 135 ENSG00000117228 chr1 89052319 89065360 - GBP1 protein_coding Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008]. 2633 GO:0031410, GO:0015629, GO:0012506, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005576, GO:0000139, cytoplasmic vesicle, actin cytoskeleton, vesicle membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, extracellular region, Golgi membrane, GO:0051879, GO:0042803, GO:0042802, GO:0030507, GO:0019955, GO:0019899, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003779, Hsp90 protein binding, protein homodimerization activity, identical protein binding, spectrin binding, cytokine binding, enzyme binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, actin binding, GO:1903077, GO:1903076, GO:1900025, GO:0072665, GO:0071356, GO:0071347, GO:0071346, GO:0071346, GO:0070373, GO:0060333, GO:0051607, GO:0050860, GO:0050848, GO:0032703, negative regulation of protein localization to plasma membrane, regulation of protein localization to plasma membrane, negative regulation of substrate adhesion-dependent cell spreading, protein localization to vacuole, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, cellular response to interferon-gamma, negative regulation of ERK1 and ERK2 cascade, interferon-gamma-mediated signaling pathway, defense response to virus, negative regulation of T cell receptor signaling pathway, regulation of calcium-mediated signaling, negative regulation of interleukin-2 production, 1095 673 1691 1474 1482 2321 1325 978 1794 ENSG00000117242 chr1 20642657 20652193 - PINK1-AS antisense 100861548 466 489 528 215 524 308 348 446 369 ENSG00000117245 chr1 20664014 20718017 - KIF17 protein_coding 57576 GO:1990075, GO:0043005, GO:0036064, GO:0032839, GO:0032391, GO:0005930, GO:0005929, GO:0005929, GO:0005929, GO:0005874, GO:0005871, GO:0005829, GO:0005815, periciliary membrane compartment, neuron projection, ciliary basal body, dendrite cytoplasm, photoreceptor connecting cilium, axoneme, cilium, cilium, cilium, microtubule, kinesin complex, cytosol, microtubule organizing center, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0003777, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, microtubule motor activity, GO:0098971, GO:0035735, GO:0030030, GO:0016192, GO:0007018, anterograde dendritic transport of neurotransmitter receptor complex, intraciliary transport involved in cilium assembly, cell projection organization, vesicle-mediated transport, microtubule-based movement, 0 0 3 3 0 0 0 1 0 ENSG00000117262 chr1 145607990 145670648 + GPR89A protein_coding GPR89A is a nearly identical copy of the GPR89B gene (MIM 612806).[supplied by OMIM, Jun 2009]. 653519 GO:0032580, GO:0032580, GO:0030660, GO:0016021, Golgi cisterna membrane, Golgi cisterna membrane, Golgi-associated vesicle membrane, integral component of membrane, GO:0008308, GO:0008308, voltage-gated anion channel activity, voltage-gated anion channel activity, GO:0051452, GO:0051452, GO:0043123, GO:0034765, GO:0034220, GO:0030217, GO:0015698, GO:0015031, intracellular pH reduction, intracellular pH reduction, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of ion transmembrane transport, ion transmembrane transport, T cell differentiation, inorganic anion transport, protein transport, 11 7 16 46 18 49 20 15 2 ENSG00000117266 chr1 205504595 205532793 + CDK18 protein_coding 5129 GO:0005737, GO:0005634, GO:0005575, cytoplasm, nucleus, cellular_component, GO:0005524, GO:0005515, GO:0004693, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, GO:0051726, GO:0006468, GO:0000083, regulation of cell cycle, protein phosphorylation, regulation of transcription involved in G1/S transition of mitotic cell cycle, 2 0 3 1 3 9 0 1 5 ENSG00000117280 chr1 205767986 205775460 - RAB29 protein_coding 8934 GO:0097708, GO:0070062, GO:0055037, GO:0048471, GO:0042470, GO:0020003, GO:0012505, GO:0005886, GO:0005856, GO:0005829, GO:0005802, GO:0005802, GO:0005801, GO:0005794, GO:0005773, GO:0005769, GO:0005739, GO:0005737, intracellular vesicle, extracellular exosome, recycling endosome, perinuclear region of cytoplasm, melanosome, symbiont-containing vacuole, endomembrane system, plasma membrane, cytoskeleton, cytosol, trans-Golgi network, trans-Golgi network, cis-Golgi network, Golgi apparatus, vacuole, early endosome, mitochondrion, cytoplasm, GO:0070840, GO:0031267, GO:0019894, GO:0019003, GO:0005525, GO:0005515, GO:0003924, dynein complex binding, small GTPase binding, kinesin binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:1905279, GO:1903441, GO:1901998, GO:1901214, GO:0090316, GO:0072657, GO:0050862, GO:0042147, GO:0042110, GO:0039694, GO:0032438, GO:0010977, GO:0009617, GO:0007416, GO:0007030, GO:0007005, GO:0006888, GO:0006886, GO:0001921, regulation of retrograde transport, endosome to Golgi, protein localization to ciliary membrane, toxin transport, regulation of neuron death, positive regulation of intracellular protein transport, protein localization to membrane, positive regulation of T cell receptor signaling pathway, retrograde transport, endosome to Golgi, T cell activation, viral RNA genome replication, melanosome organization, negative regulation of neuron projection development, response to bacterium, synapse assembly, Golgi organization, mitochondrion organization, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, positive regulation of receptor recycling, 178 141 344 217 94 278 160 93 214 ENSG00000117281 chr1 145719471 145739288 + CD160 protein_coding CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008]. 11126 GO:0046658, GO:0046658, GO:0005886, GO:0005886, GO:0005576, anchored component of plasma membrane, anchored component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0032397, GO:0032394, GO:0032393, GO:0023024, GO:0019900, GO:0005515, GO:0005102, activating MHC class I receptor activity, MHC class Ib receptor activity, MHC class I receptor activity, MHC class I protein complex binding, kinase binding, protein binding, signaling receptor binding, GO:2000353, GO:1905675, GO:1900280, GO:0050860, GO:0050829, GO:0050776, GO:0045954, GO:0045087, GO:0032729, GO:0031295, GO:0016525, GO:0014065, GO:0002857, GO:0002729, GO:0002385, GO:0002250, GO:0001525, positive regulation of endothelial cell apoptotic process, negative regulation of adaptive immune memory response, negative regulation of CD4-positive, alpha-beta T cell costimulation, negative regulation of T cell receptor signaling pathway, defense response to Gram-negative bacterium, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, innate immune response, positive regulation of interferon-gamma production, T cell costimulation, negative regulation of angiogenesis, phosphatidylinositol 3-kinase signaling, positive regulation of natural killer cell mediated immune response to tumor cell, positive regulation of natural killer cell cytokine production, mucosal immune response, adaptive immune response, angiogenesis, 2 7 19 52 15 79 14 10 25 ENSG00000117298 chr1 21217247 21345572 - ECE1 protein_coding The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]. 1889 GO:0070062, GO:0048471, GO:0033093, GO:0031982, GO:0031302, GO:0016021, GO:0016020, GO:0009897, GO:0005886, GO:0005886, GO:0005768, GO:0005765, extracellular exosome, perinuclear region of cytoplasm, Weibel-Palade body, vesicle, intrinsic component of endosome membrane, integral component of membrane, membrane, external side of plasma membrane, plasma membrane, plasma membrane, endosome, lysosomal membrane, GO:0042803, GO:0017046, GO:0008270, GO:0005515, GO:0004222, GO:0004222, GO:0004222, GO:0004175, protein homodimerization activity, peptide hormone binding, zinc ion binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:0060037, GO:0043583, GO:0042733, GO:0042447, GO:0034959, GO:0019229, GO:0016486, GO:0016486, GO:0016485, GO:0016485, GO:0010816, GO:0010815, GO:0010814, GO:0007507, GO:0003100, GO:0001921, pharyngeal system development, ear development, embryonic digit morphogenesis, hormone catabolic process, endothelin maturation, regulation of vasoconstriction, peptide hormone processing, peptide hormone processing, protein processing, protein processing, calcitonin catabolic process, bradykinin catabolic process, substance P catabolic process, heart development, regulation of systemic arterial blood pressure by endothelin, positive regulation of receptor recycling, 6106 5396 9360 2809 3787 3826 3368 2952 3106 ENSG00000117305 chr1 23801885 23838620 - HMGCL protein_coding The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 3155 GO:0032991, GO:0005829, GO:0005782, GO:0005777, GO:0005759, GO:0005759, GO:0005739, GO:0005739, protein-containing complex, cytosol, peroxisomal matrix, peroxisome, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, GO:0046872, GO:0031406, GO:0030145, GO:0005198, GO:0004419, GO:0004419, GO:0000287, GO:0000062, metal ion binding, carboxylic acid binding, manganese ion binding, structural molecule activity, hydroxymethylglutaryl-CoA lyase activity, hydroxymethylglutaryl-CoA lyase activity, magnesium ion binding, fatty-acyl-CoA binding, GO:0070542, GO:0046951, GO:0046951, GO:0046951, GO:0042594, GO:0007584, GO:0007005, GO:0006637, GO:0006629, GO:0006629, GO:0006625, GO:0006552, GO:0006552, GO:0006552, GO:0001889, response to fatty acid, ketone body biosynthetic process, ketone body biosynthetic process, ketone body biosynthetic process, response to starvation, response to nutrient, mitochondrion organization, acyl-CoA metabolic process, lipid metabolic process, lipid metabolic process, protein targeting to peroxisome, leucine catabolic process, leucine catabolic process, leucine catabolic process, liver development, 63 70 65 55 78 53 32 69 68 ENSG00000117308 chr1 23795599 23800804 - GALE protein_coding This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 2582 GO:0005829, GO:0005829, cytosol, cytosol, GO:0042803, GO:0042802, GO:0003978, GO:0003978, GO:0003974, protein homodimerization activity, identical protein binding, UDP-glucose 4-epimerase activity, UDP-glucose 4-epimerase activity, UDP-N-acetylglucosamine 4-epimerase activity, GO:0033499, GO:0019388, GO:0019388, galactose catabolic process via UDP-galactose, galactose catabolic process, galactose catabolic process, 53 52 66 43 42 52 59 41 40 ENSG00000117318 chr1 23557918 23559794 - ID3 protein_coding The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]. 3399 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:1901707, GO:0140416, GO:0140110, GO:0046983, GO:0019904, GO:0008134, GO:0005515, leptomycin B binding, transcription regulator inhibitor activity, transcription regulator activity, protein dimerization activity, protein domain specific binding, transcription factor binding, protein binding, GO:0072750, GO:0051726, GO:0045892, GO:0045668, GO:0045662, GO:0043433, GO:0043065, GO:0042476, GO:0032922, GO:0030903, GO:0030855, GO:0030182, GO:0030154, GO:0010628, GO:0009611, GO:0007517, GO:0007507, GO:0007417, GO:0007275, GO:0006275, GO:0001656, GO:0000122, GO:0000122, cellular response to leptomycin B, regulation of cell cycle, negative regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, negative regulation of myoblast differentiation, negative regulation of DNA-binding transcription factor activity, positive regulation of apoptotic process, odontogenesis, circadian regulation of gene expression, notochord development, epithelial cell differentiation, neuron differentiation, cell differentiation, positive regulation of gene expression, response to wounding, muscle organ development, heart development, central nervous system development, multicellular organism development, regulation of DNA replication, metanephros development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 5 9 2 19 68 40 21 38 52 ENSG00000117322 chr1 207454230 207489895 + CR2 protein_coding This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 1380 GO:0070062, GO:0043235, GO:0016021, GO:0005886, extracellular exosome, receptor complex, integral component of membrane, plasma membrane, GO:0042803, GO:0005515, GO:0004888, GO:0004875, GO:0003677, GO:0001848, GO:0001618, protein homodimerization activity, protein binding, transmembrane signaling receptor activity, complement receptor activity, DNA binding, complement binding, virus receptor activity, GO:0046718, GO:0045087, GO:0042100, GO:0030449, GO:0030183, GO:0006958, GO:0006955, GO:0002430, viral entry into host cell, innate immune response, B cell proliferation, regulation of complement activation, B cell differentiation, complement activation, classical pathway, immune response, complement receptor mediated signaling pathway, 7 6 1 10 7 17 3 5 2 ENSG00000117335 chr1 207752057 207795513 + CD46 protein_coding The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]. 4179 GO:0070062, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0002079, extracellular exosome, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, inner acrosomal membrane, GO:0045296, GO:0038023, GO:0005515, GO:0001618, cadherin binding, signaling receptor activity, protein binding, virus receptor activity, GO:0071636, GO:0046718, GO:0045591, GO:0045087, GO:0043382, GO:0042102, GO:0035581, GO:0032733, GO:0032613, GO:0030449, GO:0010629, GO:0010628, GO:0008593, GO:0007338, GO:0006958, GO:0002456, GO:0002250, positive regulation of transforming growth factor beta production, viral entry into host cell, positive regulation of regulatory T cell differentiation, innate immune response, positive regulation of memory T cell differentiation, positive regulation of T cell proliferation, sequestering of extracellular ligand from receptor, positive regulation of interleukin-10 production, interleukin-10 production, regulation of complement activation, negative regulation of gene expression, positive regulation of gene expression, regulation of Notch signaling pathway, single fertilization, complement activation, classical pathway, T cell mediated immunity, adaptive immune response, 12433 10145 13356 3582 5805 5334 4950 5363 4899 ENSG00000117360 chr1 150321476 150353195 + PRPF3 protein_coding The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]. 9129 GO:0071005, GO:0046540, GO:0046540, GO:0016607, GO:0015030, GO:0005829, GO:0005681, GO:0005654, GO:0005654, GO:0005634, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, nuclear speck, Cajal body, cytosol, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0005515, GO:0003723, identical protein binding, protein binding, RNA binding, GO:0008380, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000375, GO:0000244, RNA splicing, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, spliceosomal tri-snRNP complex assembly, 601 658 775 813 1120 970 880 731 786 ENSG00000117362 chr1 150265399 150269580 - APH1A protein_coding This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]. 51107 GO:0070765, GO:0070765, GO:0032580, GO:0016021, GO:0016020, GO:0010008, GO:0005887, GO:0005887, GO:0005886, GO:0005794, GO:0005789, GO:0005783, GO:0005783, gamma-secretase complex, gamma-secretase complex, Golgi cisterna membrane, integral component of membrane, membrane, endosome membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0004175, protein binding, endopeptidase activity, GO:0048013, GO:0044267, GO:0043085, GO:0043065, GO:0042987, GO:0042987, GO:0042982, GO:0035333, GO:0034205, GO:0031293, GO:0031293, GO:0016485, GO:0016485, GO:0007220, GO:0007220, GO:0007220, GO:0007219, GO:0006509, GO:0001656, ephrin receptor signaling pathway, cellular protein metabolic process, positive regulation of catalytic activity, positive regulation of apoptotic process, amyloid precursor protein catabolic process, amyloid precursor protein catabolic process, amyloid precursor protein metabolic process, Notch receptor processing, ligand-dependent, amyloid-beta formation, membrane protein intracellular domain proteolysis, membrane protein intracellular domain proteolysis, protein processing, protein processing, Notch receptor processing, Notch receptor processing, Notch receptor processing, Notch signaling pathway, membrane protein ectodomain proteolysis, metanephros development, 862 881 1082 742 1080 923 806 923 676 ENSG00000117385 chr1 42746335 42767084 - P3H1 protein_coding This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]. 64175 GO:0070062, GO:0062023, GO:0032991, GO:0016020, GO:0005788, GO:0005783, GO:0005783, extracellular exosome, collagen-containing extracellular matrix, protein-containing complex, membrane, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:0031418, GO:0019797, GO:0019797, GO:0005518, GO:0005515, GO:0005506, GO:0003674, L-ascorbic acid binding, procollagen-proline 3-dioxygenase activity, procollagen-proline 3-dioxygenase activity, collagen binding, protein binding, iron ion binding, molecular_function, GO:1901874, GO:0061077, GO:0060348, GO:0055114, GO:0050821, GO:0050708, GO:0032963, GO:0032963, GO:0019511, GO:0018126, GO:0010976, GO:0008285, GO:0006457, negative regulation of post-translational protein modification, chaperone-mediated protein folding, bone development, oxidation-reduction process, protein stabilization, regulation of protein secretion, collagen metabolic process, collagen metabolic process, peptidyl-proline hydroxylation, protein hydroxylation, positive regulation of neuron projection development, negative regulation of cell population proliferation, protein folding, 49 62 45 54 105 92 70 54 71 ENSG00000117394 chr1 42925375 42959176 - SLC2A1 protein_coding This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]. 6513 GO:0098793, GO:0072562, GO:0070062, GO:0042470, GO:0042383, GO:0030864, GO:0030496, GO:0030018, GO:0016324, GO:0016324, GO:0016323, GO:0016323, GO:0016021, GO:0016020, GO:0014704, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0001939, GO:0001917, GO:0000139, presynapse, blood microparticle, extracellular exosome, melanosome, sarcolemma, cortical actin cytoskeleton, midbody, Z disc, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, intercalated disc, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, female pronucleus, photoreceptor inner segment, Golgi membrane, GO:0055056, GO:0043621, GO:0042910, GO:0042802, GO:0033300, GO:0019900, GO:0005515, GO:0005355, GO:0005324, D-glucose transmembrane transporter activity, protein self-association, xenobiotic transmembrane transporter activity, identical protein binding, dehydroascorbic acid transmembrane transporter activity, kinase binding, protein binding, glucose transmembrane transporter activity, long-chain fatty acid transporter activity, GO:1904659, GO:1904659, GO:1904659, GO:1904016, GO:0150104, GO:0150104, GO:0150104, GO:0098708, GO:0098708, GO:0071474, GO:0071260, GO:0070837, GO:0065003, GO:0050796, GO:0045494, GO:0042908, GO:0042149, GO:0032868, GO:0021987, GO:0019852, GO:0015911, GO:0010827, GO:0007565, GO:0007417, GO:0005989, GO:0001666, glucose transmembrane transport, glucose transmembrane transport, glucose transmembrane transport, response to Thyroglobulin triiodothyronine, transport across blood-brain barrier, transport across blood-brain barrier, transport across blood-brain barrier, glucose import across plasma membrane, glucose import across plasma membrane, cellular hyperosmotic response, cellular response to mechanical stimulus, dehydroascorbic acid transport, protein-containing complex assembly, regulation of insulin secretion, photoreceptor cell maintenance, xenobiotic transport, cellular response to glucose starvation, response to insulin, cerebral cortex development, L-ascorbic acid metabolic process, long-chain fatty acid import across plasma membrane, regulation of glucose transmembrane transport, female pregnancy, central nervous system development, lactose biosynthetic process, response to hypoxia, 220 149 202 163 75 198 148 76 159 ENSG00000117395 chr1 43164175 43270936 - EBNA1BP2 protein_coding 10969 GO:0034399, GO:0030687, GO:0005730, GO:0005730, nuclear periphery, preribosome, large subunit precursor, nucleolus, nucleolus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0042273, GO:0006364, ribosomal large subunit biogenesis, rRNA processing, 10 8 18 43 13 48 21 8 27 ENSG00000117399 chr1 43358955 43363203 + CDC20 protein_coding CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]. 991 GO:0048471, GO:0005829, GO:0005829, GO:0005819, GO:0005813, GO:0005680, GO:0005654, GO:0005654, GO:0000922, perinuclear region of cytoplasm, cytosol, cytosol, spindle, centrosome, anaphase-promoting complex, nucleoplasm, nucleoplasm, spindle pole, GO:1990757, GO:0042826, GO:0019899, GO:0010997, GO:0008022, GO:0005515, ubiquitin ligase activator activity, histone deacetylase binding, enzyme binding, anaphase-promoting complex binding, protein C-terminus binding, protein binding, GO:1905786, GO:1904668, GO:1901990, GO:0090307, GO:0090129, GO:0051301, GO:0050773, GO:0040020, GO:0031915, GO:0031145, GO:0031145, GO:0031145, GO:0016579, GO:0016567, GO:0008284, GO:0007094, GO:0007064, GO:0006511, positive regulation of anaphase-promoting complex-dependent catabolic process, positive regulation of ubiquitin protein ligase activity, regulation of mitotic cell cycle phase transition, mitotic spindle assembly, positive regulation of synapse maturation, cell division, regulation of dendrite development, regulation of meiotic nuclear division, positive regulation of synaptic plasticity, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, protein ubiquitination, positive regulation of cell population proliferation, mitotic spindle assembly checkpoint, mitotic sister chromatid cohesion, ubiquitin-dependent protein catabolic process, 0 2 5 0 1 14 2 0 3 ENSG00000117400 chr1 43337849 43352772 + MPL protein_coding In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]. 4352 GO:0031965, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005794, nuclear membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, Golgi apparatus, GO:0038164, GO:0005515, thrombopoietin receptor activity, protein binding, GO:0038163, thrombopoietin-mediated signaling pathway, 3 1 1 1 1 0 3 1 3 ENSG00000117407 chr1 43933320 43937241 + ARTN protein_coding This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma. [provided by RefSeq, Aug 2016]. 9048 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0030971, GO:0030116, GO:0008083, GO:0005515, GO:0005102, receptor tyrosine kinase binding, glial cell-derived neurotrophic factor receptor binding, growth factor activity, protein binding, signaling receptor binding, GO:0097021, GO:0061146, GO:0050930, GO:0007422, GO:0007411, GO:0007405, GO:0007165, GO:0000165, lymphocyte migration into lymphoid organs, Peyer's patch morphogenesis, induction of positive chemotaxis, peripheral nervous system development, axon guidance, neuroblast proliferation, signal transduction, MAPK cascade, 0 1 0 0 1 0 0 0 0 ENSG00000117408 chr1 43946939 43968022 + IPO13 protein_coding This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009]. 9670 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0006606, GO:0006606, protein import into nucleus, protein import into nucleus, 38 61 46 84 93 102 84 64 85 ENSG00000117410 chr1 43974487 43978295 + ATP6V0B protein_coding This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 533 GO:0033179, GO:0030670, GO:0016021, GO:0010008, GO:0005774, proton-transporting V-type ATPase, V0 domain, phagocytic vesicle membrane, integral component of membrane, endosome membrane, vacuolar membrane, GO:0046961, GO:0005515, GO:0005215, proton-transporting ATPase activity, rotational mechanism, protein binding, transporter activity, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0016241, GO:0008286, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, 4954 5262 5720 7649 8660 8058 7185 6271 6156 ENSG00000117411 chr1 43978943 43991170 + B4GALT2 protein_coding This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. 8704 GO:0043231, GO:0032580, GO:0016021, GO:0005794, GO:0005654, GO:0000139, intracellular membrane-bounded organelle, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, nucleoplasm, Golgi membrane, GO:0046872, GO:0008378, GO:0004461, GO:0003945, GO:0003831, metal ion binding, galactosyltransferase activity, lactose synthase activity, N-acetyllactosamine synthase activity, beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity, GO:0018146, GO:0006486, GO:0005975, keratan sulfate biosynthetic process, protein glycosylation, carbohydrate metabolic process, 16 15 15 13 10 31 10 9 12 ENSG00000117419 chr1 44221070 44355260 - ERI3 protein_coding 79033 GO:0046872, GO:0003723, GO:0000175, metal ion binding, RNA binding, 3'-5'-exoribonuclease activity, GO:0000738, GO:0000467, DNA catabolic process, exonucleolytic, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 13 10 13 23 13 41 23 18 19 ENSG00000117425 chr1 44819844 44843063 - PTCH2 protein_coding This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]. 8643 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0097108, GO:0097108, GO:0097108, GO:0008158, GO:0008158, GO:0005119, GO:0005119, hedgehog family protein binding, hedgehog family protein binding, hedgehog family protein binding, hedgehog receptor activity, hedgehog receptor activity, smoothened binding, smoothened binding, GO:0045879, GO:0045606, GO:0043588, GO:0042633, GO:0009957, GO:0007224, GO:0001709, GO:0001558, negative regulation of smoothened signaling pathway, positive regulation of epidermal cell differentiation, skin development, hair cycle, epidermal cell fate specification, smoothened signaling pathway, cell fate determination, regulation of cell growth, 4 0 8 6 23 14 15 7 8 ENSG00000117448 chr1 45550543 45570049 + AKR1A1 protein_coding This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]. 10327 GO:0070062, GO:0016324, GO:0005829, GO:0005829, GO:0005829, GO:0005615, extracellular exosome, apical plasma membrane, cytosol, cytosol, cytosol, extracellular space, GO:0047941, GO:0047939, GO:0047939, GO:0047655, GO:0009055, GO:0005515, GO:0004745, GO:0004033, GO:0004032, glucuronolactone reductase activity, L-glucuronate reductase activity, L-glucuronate reductase activity, allyl-alcohol dehydrogenase activity, electron transfer activity, protein binding, retinol dehydrogenase activity, aldo-keto reductase (NADP) activity, alditol:NADP+ 1-oxidoreductase activity, GO:1901687, GO:0110095, GO:0046185, GO:0044598, GO:0044597, GO:0042840, GO:0022900, GO:0019853, GO:0019640, GO:0006081, GO:0006006, glutathione derivative biosynthetic process, cellular detoxification of aldehyde, aldehyde catabolic process, doxorubicin metabolic process, daunorubicin metabolic process, D-glucuronate catabolic process, electron transport chain, L-ascorbic acid biosynthetic process, glucuronate catabolic process to xylulose 5-phosphate, cellular aldehyde metabolic process, glucose metabolic process, 22 30 33 50 35 40 41 33 70 ENSG00000117450 chr1 45511036 45523047 - PRDX1 protein_coding This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]. 5052 GO:0070062, GO:0042470, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005615, extracellular exosome, melanosome, cytosol, cytosol, cytoplasm, nucleus, nucleus, extracellular space, GO:0045296, GO:0042802, GO:0008379, GO:0008379, GO:0005515, GO:0004601, GO:0004601, GO:0003723, cadherin binding, identical protein binding, thioredoxin peroxidase activity, thioredoxin peroxidase activity, protein binding, peroxidase activity, peroxidase activity, RNA binding, GO:1901222, GO:0055114, GO:0045454, GO:0045321, GO:0042744, GO:0042744, GO:0042267, GO:0034599, GO:0034101, GO:0033554, GO:0032872, GO:0030101, GO:0019430, GO:0008283, GO:0006979, GO:0001895, GO:0001501, regulation of NIK/NF-kappaB signaling, oxidation-reduction process, cell redox homeostasis, leukocyte activation, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, natural killer cell mediated cytotoxicity, cellular response to oxidative stress, erythrocyte homeostasis, cellular response to stress, regulation of stress-activated MAPK cascade, natural killer cell activation, removal of superoxide radicals, cell population proliferation, response to oxidative stress, retina homeostasis, skeletal system development, 40 34 89 152 54 184 97 57 93 ENSG00000117461 chr1 46040140 46133036 - PIK3R3 protein_coding Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]. 8503 GO:0005942, GO:0005829, phosphatidylinositol 3-kinase complex, cytosol, GO:0046935, GO:0016303, GO:0005515, GO:0001784, 1-phosphatidylinositol-3-kinase regulator activity, 1-phosphatidylinositol-3-kinase activity, protein binding, phosphotyrosine residue binding, GO:0046854, GO:0043551, GO:0043491, GO:0036092, GO:0030335, GO:0010628, GO:0008286, GO:0006661, GO:0002042, GO:0001934, phosphatidylinositol phosphorylation, regulation of phosphatidylinositol 3-kinase activity, protein kinase B signaling, phosphatidylinositol-3-phosphate biosynthetic process, positive regulation of cell migration, positive regulation of gene expression, insulin receptor signaling pathway, phosphatidylinositol biosynthetic process, cell migration involved in sprouting angiogenesis, positive regulation of protein phosphorylation, 4 6 18 3 4 17 11 3 10 ENSG00000117472 chr1 46175073 46185958 + TSPAN1 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]. 10103 GO:0070062, GO:0048471, GO:0043231, GO:0031982, GO:0031982, GO:0030054, GO:0016020, GO:0005887, GO:0005886, GO:0005765, GO:0005737, GO:0005654, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, vesicle, vesicle, cell junction, membrane, integral component of plasma membrane, plasma membrane, lysosomal membrane, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0050821, protein stabilization, 0 0 0 0 0 0 0 0 0 ENSG00000117475 chr1 169367970 169396540 + BLZF1 protein_coding 8548 GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000139, GO:0000139, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, nucleus, Golgi membrane, Golgi membrane, GO:0031625, GO:0019899, GO:0005515, ubiquitin protein ligase binding, enzyme binding, protein binding, GO:0043001, GO:0043001, GO:0007030, GO:0007030, Golgi to plasma membrane protein transport, Golgi to plasma membrane protein transport, Golgi organization, Golgi organization, 346 304 446 167 219 154 182 169 151 ENSG00000117477 chr1 169394870 169460669 - CCDC181 protein_coding 57821 GO:0036126, GO:0005874, GO:0005737, GO:0002177, sperm flagellum, microtubule, cytoplasm, manchette, GO:0008017, GO:0008017, microtubule binding, microtubule binding, 5 11 1 17 5 10 10 7 9 ENSG00000117479 chr1 169463909 169486003 - SLC19A2 protein_coding This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 10560 GO:0016021, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0015234, GO:0015234, GO:0015234, GO:0015234, GO:0008517, GO:0005515, thiamine transmembrane transporter activity, thiamine transmembrane transporter activity, thiamine transmembrane transporter activity, thiamine transmembrane transporter activity, folic acid transmembrane transporter activity, protein binding, GO:0071934, GO:0055085, GO:0042723, GO:0015888, GO:0015888, GO:0015884, thiamine transmembrane transport, transmembrane transport, thiamine-containing compound metabolic process, thiamine transport, thiamine transport, folic acid transport, 186 239 218 734 694 510 630 505 341 ENSG00000117480 chr1 46394265 46413848 + FAAH protein_coding This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]. 2166 GO:0031090, GO:0016021, GO:0005856, GO:0005789, organelle membrane, integral component of membrane, cytoskeleton, endoplasmic reticulum membrane, GO:0103073, GO:0102077, GO:0047372, GO:0017064, GO:0017064, GO:0017064, GO:0005515, GO:0004040, anandamide amidohydrolase activity, oleamide hydrolase activity, acylglycerol lipase activity, fatty acid amide hydrolase activity, fatty acid amide hydrolase activity, fatty acid amide hydrolase activity, protein binding, amidase activity, GO:0052651, GO:0019369, GO:0009062, GO:0009062, monoacylglycerol catabolic process, arachidonic acid metabolic process, fatty acid catabolic process, fatty acid catabolic process, 20 14 37 12 13 29 19 10 22 ENSG00000117481 chr1 46340177 46365152 + NSUN4 protein_coding 387338 GO:0005762, GO:0005762, GO:0005759, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial matrix, GO:0070181, GO:0009383, GO:0008168, GO:0008168, GO:0005515, small ribosomal subunit rRNA binding, rRNA (cytosine-C5-)-methyltransferase activity, methyltransferase activity, methyltransferase activity, protein binding, GO:0070131, GO:0042256, GO:0031167, GO:0031167, GO:0031167, GO:0001510, positive regulation of mitochondrial translation, mature ribosome assembly, rRNA methylation, rRNA methylation, rRNA methylation, RNA methylation, 149 110 230 265 221 271 216 217 210 ENSG00000117500 chr1 93149742 93180728 - TMED5 protein_coding 50999 GO:0070971, GO:0033116, GO:0030134, GO:0016021, GO:0005801, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005783, endoplasmic reticulum exit site, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, integral component of membrane, cis-Golgi network, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0090161, GO:0090161, GO:0007030, GO:0006888, GO:0006886, Golgi ribbon formation, Golgi ribbon formation, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 2198 1684 2734 1369 1343 2265 1674 1098 1959 ENSG00000117501 chr1 170935471 171064765 + MROH9 protein_coding 80133 0 0 0 0 0 0 0 0 0 ENSG00000117505 chr1 93345888 93369498 + DR1 protein_coding This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008]. 1810 GO:0090575, GO:0017054, GO:0005671, GO:0005671, GO:0005654, RNA polymerase II transcription regulator complex, negative cofactor 2 complex, Ada2/Gcn5/Ada3 transcription activator complex, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, GO:0046982, GO:0017025, GO:0017025, GO:0017025, GO:0016251, GO:0005515, GO:0003714, GO:0003713, GO:0001046, protein heterodimerization activity, TBP-class protein binding, TBP-class protein binding, TBP-class protein binding, RNA polymerase II general transcription initiation factor activity, protein binding, transcription corepressor activity, transcription coactivator activity, core promoter sequence-specific DNA binding, GO:0051123, GO:0045944, GO:0043966, GO:0006338, GO:0000122, GO:0000122, RNA polymerase II preinitiation complex assembly, positive regulation of transcription by RNA polymerase II, histone H3 acetylation, chromatin remodeling, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 846 711 1062 367 438 419 336 437 423 ENSG00000117507 chr1 171137740 171161568 + FMO6P transcribed_unitary_pseudogene 388714 0 0 0 0 0 0 0 0 0 ENSG00000117519 chr1 94896949 94927278 - CNN3 protein_coding This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008]. 1266 GO:0043197, GO:0043025, GO:0015629, GO:0014069, GO:0005925, GO:0005912, GO:0005829, dendritic spine, neuronal cell body, actin cytoskeleton, postsynaptic density, focal adhesion, adherens junction, cytosol, GO:0098641, GO:0008017, GO:0005516, GO:0003779, cadherin binding involved in cell-cell adhesion, microtubule binding, calmodulin binding, actin binding, GO:0098609, GO:0032780, GO:0031032, GO:0030855, cell-cell adhesion, negative regulation of ATPase activity, actomyosin structure organization, epithelial cell differentiation, 2 2 5 4 0 3 4 0 3 ENSG00000117523 chr1 171485551 171593511 + PRRC2C protein_coding 23215 GO:0016020, GO:0010494, GO:0005829, membrane, cytoplasmic stress granule, cytosol, GO:0008022, GO:0003723, protein C-terminus binding, RNA binding, GO:0034063, GO:0030154, GO:0002244, stress granule assembly, cell differentiation, hematopoietic progenitor cell differentiation, 4921 5207 6680 2355 2932 3439 2761 2310 2601 ENSG00000117525 chr1 94529225 94541800 - F3 protein_coding This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces, for example, on monocytes. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. Platelets and monocytes have been shown to express this coagulation factor under procoagulatory and proinflammatory stimuli, and a major role in HIV-associated coagulopathy has been described. Platelet-dependent monocyte expression of coagulation factor III has been described to be associated with Coronavirus Disease 2019 (COVID-19) severity and mortality. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Aug 2020]. 2152 GO:1905286, GO:0062023, GO:0031233, GO:0016021, GO:0009986, GO:0009986, GO:0005886, GO:0005886, GO:0005615, serine-type peptidase complex, collagen-containing extracellular matrix, intrinsic component of external side of plasma membrane, integral component of membrane, cell surface, cell surface, plasma membrane, plasma membrane, extracellular space, GO:0005543, GO:0005515, GO:0004896, GO:0004252, GO:0002020, phospholipid binding, protein binding, cytokine receptor activity, serine-type endopeptidase activity, protease binding, GO:0051897, GO:0050927, GO:0045766, GO:0032757, GO:0030335, GO:0019221, GO:0016485, GO:0010641, GO:0010628, GO:0007598, GO:0007596, GO:0006919, GO:0002543, GO:0002541, GO:0001938, positive regulation of protein kinase B signaling, positive regulation of positive chemotaxis, positive regulation of angiogenesis, positive regulation of interleukin-8 production, positive regulation of cell migration, cytokine-mediated signaling pathway, protein processing, positive regulation of platelet-derived growth factor receptor signaling pathway, positive regulation of gene expression, blood coagulation, extrinsic pathway, blood coagulation, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of blood coagulation via clotting cascade, activation of plasma proteins involved in acute inflammatory response, positive regulation of endothelial cell proliferation, 5 5 4 1 3 1 14 5 18 ENSG00000117528 chr1 94418455 94518666 + ABCD3 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 5825 GO:0043231, GO:0016021, GO:0016020, GO:0005829, GO:0005782, GO:0005778, GO:0005778, GO:0005778, GO:0005777, GO:0005739, intracellular membrane-bounded organelle, integral component of membrane, membrane, cytosol, peroxisomal matrix, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, mitochondrion, GO:0043621, GO:0042803, GO:0042626, GO:0016887, GO:0016887, GO:0005524, GO:0005524, GO:0005515, GO:0005324, protein self-association, protein homodimerization activity, ATPase-coupled transmembrane transporter activity, ATPase activity, ATPase activity, ATP binding, ATP binding, protein binding, long-chain fatty acid transporter activity, GO:0055085, GO:0042760, GO:0042760, GO:0042493, GO:0015910, GO:0014070, GO:0007031, GO:0007031, GO:0007031, GO:0006635, GO:0006635, GO:0006633, transmembrane transport, very long-chain fatty acid catabolic process, very long-chain fatty acid catabolic process, response to drug, long-chain fatty acid import into peroxisome, response to organic cyclic compound, peroxisome organization, peroxisome organization, peroxisome organization, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid biosynthetic process, 55 52 70 70 39 92 54 29 31 ENSG00000117533 chr1 171700160 171742247 - VAMP4 protein_coding Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]. 8674 GO:0032588, GO:0031201, GO:0030665, GO:0030285, GO:0030133, GO:0009986, GO:0008021, GO:0005886, GO:0005802, GO:0005794, GO:0005768, GO:0005764, GO:0000139, trans-Golgi network membrane, SNARE complex, clathrin-coated vesicle membrane, integral component of synaptic vesicle membrane, transport vesicle, cell surface, synaptic vesicle, plasma membrane, trans-Golgi network, Golgi apparatus, endosome, lysosome, Golgi membrane, GO:0005515, protein binding, GO:1900242, GO:0090161, GO:0090161, GO:0061024, GO:0043001, GO:0035493, GO:0035493, GO:0006888, GO:0000226, GO:0000226, regulation of synaptic vesicle endocytosis, Golgi ribbon formation, Golgi ribbon formation, membrane organization, Golgi to plasma membrane protein transport, SNARE complex assembly, SNARE complex assembly, endoplasmic reticulum to Golgi vesicle-mediated transport, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 75 76 84 137 108 125 100 90 94 ENSG00000117543 chr1 100989623 101026088 - DPH5 protein_coding This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 51611 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0004164, GO:0004164, diphthine synthase activity, diphthine synthase activity, GO:0032259, GO:0017183, GO:0017183, GO:0017183, methylation, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, 17 11 17 59 21 79 38 8 42 ENSG00000117560 chr1 172659018 172666874 + FASLG protein_coding This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]. 356 GO:0070062, GO:0060205, GO:0048471, GO:0043202, GO:0009897, GO:0005901, GO:0005887, GO:0005886, GO:0005634, GO:0005615, GO:0005576, extracellular exosome, cytoplasmic vesicle lumen, perinuclear region of cytoplasm, lysosomal lumen, external side of plasma membrane, caveola, integral component of plasma membrane, plasma membrane, nucleus, extracellular space, extracellular region, GO:0005515, GO:0005164, GO:0005125, GO:0005123, GO:0005102, protein binding, tumor necrosis factor receptor binding, cytokine activity, death receptor binding, signaling receptor binding, GO:2000353, GO:1903514, GO:1902042, GO:1902041, GO:0097527, GO:0097191, GO:0097190, GO:0097190, GO:0071346, GO:0070848, GO:0070266, GO:0070231, GO:0048388, GO:0046666, GO:0045742, GO:0043525, GO:0043123, GO:0043123, GO:0043065, GO:0032496, GO:0030644, GO:0019221, GO:0016525, GO:0008625, GO:0008625, GO:0008284, GO:0007267, GO:0007165, GO:0006925, GO:0006919, GO:0006919, GO:0006919, GO:0006915, GO:0000122, positive regulation of endothelial cell apoptotic process, release of sequestered calcium ion into cytosol by endoplasmic reticulum, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, necroptotic signaling pathway, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, apoptotic signaling pathway, cellular response to interferon-gamma, response to growth factor, necroptotic process, T cell apoptotic process, endosomal lumen acidification, retinal cell programmed cell death, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of neuron apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, response to lipopolysaccharide, cellular chloride ion homeostasis, cytokine-mediated signaling pathway, negative regulation of angiogenesis, extrinsic apoptotic signaling pathway via death domain receptors, extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, inflammatory cell apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, negative regulation of transcription by RNA polymerase II, 9 7 35 11 5 35 27 8 15 ENSG00000117569 chr1 96721665 96823738 + PTBP2 protein_coding The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 58155 GO:0043025, GO:0030426, GO:0005681, GO:0005634, neuronal cell body, growth cone, spliceosomal complex, nucleus, GO:0003729, GO:0003723, mRNA binding, RNA binding, GO:2000177, GO:0043484, GO:0033119, GO:0033119, GO:0021549, GO:0021510, GO:0006417, GO:0006376, regulation of neural precursor cell proliferation, regulation of RNA splicing, negative regulation of RNA splicing, negative regulation of RNA splicing, cerebellum development, spinal cord development, regulation of translation, mRNA splice site selection, 115 83 111 120 117 152 137 101 78 ENSG00000117586 chr1 173183734 173207313 - TNFSF4 protein_coding This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 7292 GO:0009986, GO:0005887, GO:0005886, GO:0005615, GO:0005615, cell surface, integral component of plasma membrane, plasma membrane, extracellular space, extracellular space, GO:0032813, GO:0032813, GO:0005515, GO:0005164, GO:0005125, GO:0005102, tumor necrosis factor receptor superfamily binding, tumor necrosis factor receptor superfamily binding, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:2000572, GO:1900281, GO:0071954, GO:0071380, GO:0071222, GO:0050871, GO:0050729, GO:0050727, GO:0046641, GO:0045892, GO:0045630, GO:0045626, GO:0045590, GO:0043433, GO:0043382, GO:0043372, GO:0042102, GO:0035713, GO:0035712, GO:0035709, GO:0033209, GO:0032755, GO:0032753, GO:0032736, GO:0032735, GO:0032733, GO:0032729, GO:0032700, GO:0032689, GO:0009615, GO:0008284, GO:0007165, GO:0006955, GO:0006954, GO:0002891, GO:0002830, GO:0002819, GO:0002726, GO:0002639, GO:0002526, GO:0002215, GO:0001819, positive regulation of interleukin-4-dependent isotype switching to IgE isotypes, positive regulation of CD4-positive, alpha-beta T cell costimulation, chemokine (C-C motif) ligand 11 production, cellular response to prostaglandin E stimulus, cellular response to lipopolysaccharide, positive regulation of B cell activation, positive regulation of inflammatory response, regulation of inflammatory response, positive regulation of alpha-beta T cell proliferation, negative regulation of transcription, DNA-templated, positive regulation of T-helper 2 cell differentiation, negative regulation of T-helper 1 cell differentiation, negative regulation of regulatory T cell differentiation, negative regulation of DNA-binding transcription factor activity, positive regulation of memory T cell differentiation, positive regulation of CD4-positive, alpha-beta T cell differentiation, positive regulation of T cell proliferation, response to nitrogen dioxide, T-helper 2 cell activation, memory T cell activation, tumor necrosis factor-mediated signaling pathway, positive regulation of interleukin-6 production, positive regulation of interleukin-4 production, positive regulation of interleukin-13 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interferon-gamma production, negative regulation of interleukin-17 production, negative regulation of interferon-gamma production, response to virus, positive regulation of cell population proliferation, signal transduction, immune response, inflammatory response, positive regulation of immunoglobulin mediated immune response, positive regulation of type 2 immune response, regulation of adaptive immune response, positive regulation of T cell cytokine production, positive regulation of immunoglobulin production, acute inflammatory response, defense response to nematode, positive regulation of cytokine production, 13 13 17 13 24 29 11 10 6 ENSG00000117592 chr1 173477266 173488807 + PRDX6 protein_coding The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008]. 9588 GO:0070062, GO:0048471, GO:0035578, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005634, GO:0005615, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, azurophil granule lumen, membrane, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, nucleus, extracellular space, extracellular region, GO:0102568, GO:0102567, GO:0051920, GO:0047499, GO:0047184, GO:0045296, GO:0042802, GO:0031625, GO:0005515, GO:0004623, GO:0004602, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), peroxiredoxin activity, calcium-independent phospholipase A2 activity, 1-acylglycerophosphocholine O-acyltransferase activity, cadherin binding, identical protein binding, ubiquitin protein ligase binding, protein binding, phospholipase A2 activity, glutathione peroxidase activity, GO:0098869, GO:0055114, GO:0048026, GO:0046475, GO:0045454, GO:0043312, GO:0042744, GO:0034599, GO:0006979, cellular oxidant detoxification, oxidation-reduction process, positive regulation of mRNA splicing, via spliceosome, glycerophospholipid catabolic process, cell redox homeostasis, neutrophil degranulation, hydrogen peroxide catabolic process, cellular response to oxidative stress, response to oxidative stress, 324 349 426 184 247 261 197 208 211 ENSG00000117593 chr1 173824568 173858808 + DARS2 protein_coding The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]. 55157 GO:0005759, GO:0005739, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, GO:0050560, GO:0042803, GO:0005524, GO:0005515, GO:0004815, GO:0000049, aspartate-tRNA(Asn) ligase activity, protein homodimerization activity, ATP binding, protein binding, aspartate-tRNA ligase activity, tRNA binding, GO:0070145, GO:0070145, GO:0043039, GO:0006418, mitochondrial asparaginyl-tRNA aminoacylation, mitochondrial asparaginyl-tRNA aminoacylation, tRNA aminoacylation, tRNA aminoacylation for protein translation, 33 29 36 35 40 61 43 26 27 ENSG00000117594 chr1 209686178 209734950 + HSD11B1 protein_coding The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]. 3290 GO:0030176, GO:0016020, GO:0005789, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, GO:0070524, GO:0050661, GO:0042803, GO:0005496, GO:0003845, 11-beta-hydroxysteroid dehydrogenase (NADP+) activity, NADP binding, protein homodimerization activity, steroid binding, 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity, GO:0055114, GO:0030324, GO:0006706, GO:0006704, oxidation-reduction process, lung development, steroid catabolic process, glucocorticoid biosynthetic process, 1 1 3 0 2 1 0 0 11 ENSG00000117595 chr1 209785623 209806175 - IRF6 protein_coding This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]. 3664 GO:0070062, GO:0030054, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000785, extracellular exosome, cell junction, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1904888, GO:0060644, GO:0060337, GO:0060333, GO:0060173, GO:0048468, GO:0045944, GO:0045893, GO:0043616, GO:0030216, GO:0008285, GO:0007050, GO:0006357, GO:0002376, cranial skeletal system development, mammary gland epithelial cell differentiation, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, limb development, cell development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, keratinocyte proliferation, keratinocyte differentiation, negative regulation of cell population proliferation, cell cycle arrest, regulation of transcription by RNA polymerase II, immune system process, 30 25 44 8 1 34 5 5 7 ENSG00000117597 chr1 209828007 209857565 + UTP25 protein_coding 27042 GO:0032040, GO:0005730, GO:0005730, GO:0005654, small-subunit processome, nucleolus, nucleolus, nucleoplasm, GO:0034511, GO:0019843, GO:0005515, GO:0003723, U3 snoRNA binding, rRNA binding, protein binding, RNA binding, GO:0040019, GO:0031648, GO:0030163, GO:0007275, GO:0006364, GO:0000462, positive regulation of embryonic development, protein destabilization, protein catabolic process, multicellular organism development, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 31 27 37 58 11 68 32 15 32 ENSG00000117598 chr1 98890245 99005032 - PLPPR5 protein_coding The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 163404 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042577, GO:0008195, lipid phosphatase activity, phosphatidate phosphatase activity, GO:0051491, GO:0046839, GO:0010976, GO:0007165, GO:0006644, positive regulation of filopodium assembly, phospholipid dephosphorylation, positive regulation of neuron projection development, signal transduction, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000117600 chr1 99263953 99309590 + PLPPR4 protein_coding The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 9890 GO:0099061, GO:0098978, GO:0005887, GO:0005886, integral component of postsynaptic density membrane, glutamatergic synapse, integral component of plasma membrane, plasma membrane, GO:0042577, GO:0008195, lipid phosphatase activity, phosphatidate phosphatase activity, GO:0048839, GO:0046839, GO:0007409, GO:0007165, GO:0006644, inner ear development, phospholipid dephosphorylation, axonogenesis, signal transduction, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000117601 chr1 173903804 173917378 - SERPINC1 protein_coding The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]. 462 GO:0072562, GO:0070062, GO:0062023, GO:0005886, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0042802, GO:0008201, GO:0005515, GO:0004867, GO:0004867, GO:0002020, identical protein binding, heparin binding, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, GO:2000266, GO:0044267, GO:0043687, GO:0010951, GO:0007596, GO:0007595, GO:0007584, GO:0002438, regulation of blood coagulation, intrinsic pathway, cellular protein metabolic process, post-translational protein modification, negative regulation of endopeptidase activity, blood coagulation, lactation, response to nutrient, acute inflammatory response to antigenic stimulus, 3 3 0 5 3 0 1 2 1 ENSG00000117602 chr1 24502351 24541040 + RCAN3 protein_coding 11123 GO:0005737, cytoplasm, GO:0031013, GO:0019902, GO:0008597, GO:0005515, GO:0003723, troponin I binding, phosphatase binding, calcium-dependent protein serine/threonine phosphatase regulator activity, protein binding, RNA binding, GO:0070884, GO:0043666, GO:0019722, GO:0009653, regulation of calcineurin-NFAT signaling cascade, regulation of phosphoprotein phosphatase activity, calcium-mediated signaling, anatomical structure morphogenesis, 201 92 240 356 136 350 353 86 269 ENSG00000117614 chr1 25222679 25232502 - SYF2 protein_coding This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 25949 GO:0071014, GO:0071013, GO:0071013, GO:0071007, GO:0016607, GO:0005654, GO:0005634, GO:0005634, GO:0000974, post-mRNA release spliceosomal complex, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear speck, nucleoplasm, nucleus, nucleus, Prp19 complex, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0048568, GO:0008284, GO:0007369, GO:0007095, GO:0001701, GO:0000398, GO:0000398, GO:0000398, embryonic organ development, positive regulation of cell population proliferation, gastrulation, mitotic G2 DNA damage checkpoint, in utero embryonic development, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1084 992 1243 333 655 502 477 682 556 ENSG00000117616 chr1 25242237 25338213 - RSRP1 protein_coding 57035 GO:0005515, protein binding, 3118 3837 4567 4160 5322 5475 4436 3614 4278 ENSG00000117620 chr1 99969351 100035637 + SLC35A3 protein_coding This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 23443 GO:0030173, GO:0000139, integral component of Golgi membrane, Golgi membrane, GO:0005515, GO:0005462, GO:0005459, protein binding, UDP-N-acetylglucosamine transmembrane transporter activity, UDP-galactose transmembrane transporter activity, GO:1990569, GO:0072334, GO:0008643, GO:0006047, UDP-N-acetylglucosamine transmembrane transport, UDP-galactose transmembrane transport, carbohydrate transport, UDP-N-acetylglucosamine metabolic process, 58 95 99 144 81 180 108 61 125 ENSG00000117625 chr1 211258377 211316385 + RCOR3 protein_coding 55758 GO:0005667, GO:0000118, transcription regulator complex, histone deacetylase complex, GO:0005515, GO:0003714, protein binding, transcription corepressor activity, GO:0045892, GO:0016575, GO:0006357, negative regulation of transcription, DNA-templated, histone deacetylation, regulation of transcription by RNA polymerase II, 522 570 593 518 664 616 516 484 525 ENSG00000117632 chr1 25884181 25906991 - STMN1 protein_coding This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]. 3925 GO:0070062, GO:0043005, GO:0016020, GO:0005874, GO:0005829, GO:0005737, extracellular exosome, neuron projection, membrane, microtubule, cytosol, cytoplasm, GO:0015631, GO:0015631, GO:0015631, GO:0005515, tubulin binding, tubulin binding, tubulin binding, protein binding, GO:1905098, GO:0070495, GO:0061436, GO:0051497, GO:0051272, GO:0048012, GO:0035556, GO:0035024, GO:0031175, GO:0031115, GO:0031110, GO:0031110, GO:0009615, GO:0007420, GO:0007409, GO:0007165, GO:0007052, GO:0007019, GO:0007019, GO:0007019, GO:0000281, negative regulation of guanyl-nucleotide exchange factor activity, negative regulation of thrombin-activated receptor signaling pathway, establishment of skin barrier, negative regulation of stress fiber assembly, positive regulation of cellular component movement, hepatocyte growth factor receptor signaling pathway, intracellular signal transduction, negative regulation of Rho protein signal transduction, neuron projection development, negative regulation of microtubule polymerization, regulation of microtubule polymerization or depolymerization, regulation of microtubule polymerization or depolymerization, response to virus, brain development, axonogenesis, signal transduction, mitotic spindle organization, microtubule depolymerization, microtubule depolymerization, microtubule depolymerization, mitotic cytokinesis, 26 7 46 71 44 85 43 24 63 ENSG00000117640 chr1 25818640 25832942 + MTFR1L protein_coding 56181 GO:0005739, mitochondrion, GO:0005515, protein binding, GO:0009060, GO:0000266, aerobic respiration, mitochondrial fission, 133 164 182 100 142 176 108 79 125 ENSG00000117643 chr1 25617468 25786207 + MAN1C1 protein_coding 57134 GO:0070062, GO:0030173, GO:0005783, GO:0000139, GO:0000139, extracellular exosome, integral component of Golgi membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0005515, GO:0005509, GO:0004571, GO:0004571, protein binding, calcium ion binding, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, GO:1904381, GO:0006491, GO:0006487, GO:0005975, Golgi apparatus mannose trimming, N-glycan processing, protein N-linked glycosylation, carbohydrate metabolic process, 19 10 43 39 8 54 52 16 53 ENSG00000117650 chr1 211658657 211675630 - NEK2 protein_coding This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]. 4751 GO:0032991, GO:0030496, GO:0005874, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000922, GO:0000794, GO:0000777, GO:0000776, GO:0000776, protein-containing complex, midbody, microtubule, cytosol, centrosome, centrosome, cytoplasm, nucleolus, nucleoplasm, nucleus, spindle pole, condensed nuclear chromosome, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0106311, GO:0106310, GO:0046872, GO:0019903, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004672, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, protein phosphatase binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, GO:1904355, GO:1903126, GO:0097711, GO:0090307, GO:0051988, GO:0051973, GO:0051321, GO:0051301, GO:0051299, GO:0051225, GO:0046777, GO:0046777, GO:0046602, GO:0046602, GO:0043392, GO:0032212, GO:0010389, GO:0007088, GO:0007059, GO:0007059, GO:0006468, GO:0006468, GO:0001824, GO:0000278, GO:0000086, GO:0000070, positive regulation of telomere capping, negative regulation of centriole-centriole cohesion, ciliary basal body-plasma membrane docking, mitotic spindle assembly, regulation of attachment of spindle microtubules to kinetochore, positive regulation of telomerase activity, meiotic cell cycle, cell division, centrosome separation, spindle assembly, protein autophosphorylation, protein autophosphorylation, regulation of mitotic centrosome separation, regulation of mitotic centrosome separation, negative regulation of DNA binding, positive regulation of telomere maintenance via telomerase, regulation of G2/M transition of mitotic cell cycle, regulation of mitotic nuclear division, chromosome segregation, chromosome segregation, protein phosphorylation, protein phosphorylation, blastocyst development, mitotic cell cycle, G2/M transition of mitotic cell cycle, mitotic sister chromatid segregation, 0 0 1 0 1 0 0 1 2 ENSG00000117676 chr1 26529761 26575030 + RPS6KA1 protein_coding This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 6195 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005654, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, GO:0106311, GO:0106310, GO:0043027, GO:0005524, GO:0005515, GO:0004712, GO:0004711, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, ribosomal protein S6 kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:2000491, GO:0072574, GO:0045944, GO:0045893, GO:0045597, GO:0043620, GO:0043555, GO:0043154, GO:0043066, GO:0035556, GO:0030307, GO:0018105, GO:0007165, GO:0007049, GO:0006915, GO:0006468, positive regulation of hepatic stellate cell activation, hepatocyte proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of cell differentiation, regulation of DNA-templated transcription in response to stress, regulation of translation in response to stress, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, intracellular signal transduction, positive regulation of cell growth, peptidyl-serine phosphorylation, signal transduction, cell cycle, apoptotic process, protein phosphorylation, 3183 3209 4741 2215 3132 3265 2507 2397 2724 ENSG00000117682 chr1 26432282 26471294 + DHDDS protein_coding The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 79947 GO:1904423, GO:1904423, GO:0005789, GO:0005783, dehydrodolichyl diphosphate synthase complex, dehydrodolichyl diphosphate synthase complex, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0045547, GO:0045547, GO:0005515, GO:0002094, dehydrodolichyl diphosphate synthase activity, dehydrodolichyl diphosphate synthase activity, protein binding, polyprenyltransferase activity, GO:0016094, GO:0006489, GO:0006489, polyprenol biosynthetic process, dolichyl diphosphate biosynthetic process, dolichyl diphosphate biosynthetic process, 101 105 85 122 112 97 96 98 66 ENSG00000117691 chr1 212432887 212446379 + NENF protein_coding This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2009]. 29937 GO:0016020, GO:0012505, GO:0005783, GO:0005739, GO:0005654, GO:0005615, membrane, endomembrane system, endoplasmic reticulum, mitochondrion, nucleoplasm, extracellular space, GO:0046872, GO:0008083, GO:0005515, metal ion binding, growth factor activity, protein binding, GO:1901215, GO:0043410, GO:0032099, GO:0007165, negative regulation of neuron death, positive regulation of MAPK cascade, negative regulation of appetite, signal transduction, 5 6 4 26 5 38 12 3 22 ENSG00000117697 chr1 212726153 212791782 - NSL1 protein_coding This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]. 25936 GO:0016607, GO:0005829, GO:0000777, GO:0000444, GO:0000444, nuclear speck, cytosol, condensed chromosome kinetochore, MIS12/MIND type complex, MIS12/MIND type complex, GO:0005515, protein binding, GO:0051301, GO:0000070, cell division, mitotic sister chromatid segregation, 201 166 169 84 157 134 98 148 109 ENSG00000117707 chr1 213983181 214041502 + PROX1 protein_coding The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 5629 GO:0005737, GO:0005634, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0050693, GO:0050692, GO:0016922, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, LBD domain binding, DNA binding domain binding, nuclear receptor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000979, GO:2000179, GO:1901978, GO:0097150, GO:0090425, GO:0072574, GO:0070858, GO:0070365, GO:0070309, GO:0061114, GO:0060836, GO:0060421, GO:0060414, GO:0060412, GO:0060298, GO:0060214, GO:0060059, GO:0060042, GO:0055010, GO:0055009, GO:0055005, GO:0048845, GO:0046619, GO:0045893, GO:0045892, GO:0045892, GO:0045787, GO:0045737, GO:0045071, GO:0043433, GO:0043049, GO:0042752, GO:0031667, GO:0031016, GO:0030910, GO:0030324, GO:0030240, GO:0021915, GO:0021707, GO:0021542, GO:0021516, GO:0010595, GO:0010468, GO:0008285, GO:0008284, GO:0007623, GO:0007420, GO:0006357, GO:0002194, GO:0002088, GO:0001946, GO:0001938, GO:0001889, GO:0001822, GO:0001709, GO:0000122, positive regulation of forebrain neuron differentiation, positive regulation of neural precursor cell proliferation, positive regulation of cell cycle checkpoint, neuronal stem cell population maintenance, acinar cell differentiation, hepatocyte proliferation, negative regulation of bile acid biosynthetic process, hepatocyte differentiation, lens fiber cell morphogenesis, branching involved in pancreas morphogenesis, lymphatic endothelial cell differentiation, positive regulation of heart growth, aorta smooth muscle tissue morphogenesis, ventricular septum morphogenesis, positive regulation of sarcomere organization, endocardium formation, embryonic retina morphogenesis in camera-type eye, retina morphogenesis in camera-type eye, ventricular cardiac muscle tissue morphogenesis, atrial cardiac muscle tissue morphogenesis, ventricular cardiac myofibril assembly, venous blood vessel morphogenesis, optic placode formation involved in camera-type eye formation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, positive regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of viral genome replication, negative regulation of DNA-binding transcription factor activity, otic placode formation, regulation of circadian rhythm, response to nutrient levels, pancreas development, olfactory placode formation, lung development, skeletal muscle thin filament assembly, neural tube development, cerebellar granule cell differentiation, dentate gyrus development, dorsal spinal cord development, positive regulation of endothelial cell migration, regulation of gene expression, negative regulation of cell population proliferation, positive regulation of cell population proliferation, circadian rhythm, brain development, regulation of transcription by RNA polymerase II, hepatocyte cell migration, lens development in camera-type eye, lymphangiogenesis, positive regulation of endothelial cell proliferation, liver development, kidney development, cell fate determination, negative regulation of transcription by RNA polymerase II, 0 1 1 13 0 0 1 0 1 ENSG00000117713 chr1 26693236 26782110 + ARID1A protein_coding This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8289 GO:0071565, GO:0071565, GO:0071564, GO:0035060, GO:0016514, GO:0016514, GO:0005654, GO:0005654, GO:0005634, GO:0000785, nBAF complex, nBAF complex, npBAF complex, brahma complex, SWI/SNF complex, SWI/SNF complex, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0031491, GO:0016922, GO:0005515, GO:0003713, GO:0003677, GO:0003677, nucleosome binding, nuclear receptor binding, protein binding, transcription coactivator activity, DNA binding, DNA binding, GO:1901998, GO:0070829, GO:0060674, GO:0055007, GO:0048096, GO:0045893, GO:0045893, GO:0043044, GO:0042921, GO:0042766, GO:0030900, GO:0030521, GO:0030520, GO:0019827, GO:0007566, GO:0006357, GO:0006357, GO:0006338, GO:0006337, GO:0003408, GO:0003205, GO:0001843, GO:0001704, GO:0000122, toxin transport, heterochromatin maintenance, placenta blood vessel development, cardiac muscle cell differentiation, chromatin-mediated maintenance of transcription, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, ATP-dependent chromatin remodeling, glucocorticoid receptor signaling pathway, nucleosome mobilization, forebrain development, androgen receptor signaling pathway, intracellular estrogen receptor signaling pathway, stem cell population maintenance, embryo implantation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, nucleosome disassembly, optic cup formation involved in camera-type eye development, cardiac chamber development, neural tube closure, formation of primary germ layer, negative regulation of transcription by RNA polymerase II, 2739 2908 2522 1509 2322 1946 1840 1639 1625 ENSG00000117724 chr1 214603195 214664588 + CENPF protein_coding This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]. 1063 GO:0097539, GO:0048471, GO:0045120, GO:0036064, GO:0030496, GO:0016363, GO:0005930, GO:0005829, GO:0005819, GO:0005813, GO:0005737, GO:0005654, GO:0005635, GO:0005634, GO:0000940, GO:0000940, GO:0000922, GO:0000785, GO:0000776, GO:0000775, ciliary transition fiber, perinuclear region of cytoplasm, pronucleus, ciliary basal body, midbody, nuclear matrix, axoneme, cytosol, spindle, centrosome, cytoplasm, nucleoplasm, nuclear envelope, nucleus, condensed chromosome outer kinetochore, condensed chromosome outer kinetochore, spindle pole, chromatin, kinetochore, chromosome, centromeric region, GO:0070840, GO:0042803, GO:0008134, GO:0008022, GO:0008017, GO:0005515, GO:0003682, dynein complex binding, protein homodimerization activity, transcription factor binding, protein C-terminus binding, microtubule binding, protein binding, chromatin binding, GO:0071897, GO:0051726, GO:0051382, GO:0051310, GO:0051301, GO:0045892, GO:0042493, GO:0030154, GO:0021591, GO:0016202, GO:0015031, GO:0015031, GO:0010389, GO:0007517, GO:0007094, GO:0007059, GO:0007059, GO:0001822, GO:0000278, DNA biosynthetic process, regulation of cell cycle, kinetochore assembly, metaphase plate congression, cell division, negative regulation of transcription, DNA-templated, response to drug, cell differentiation, ventricular system development, regulation of striated muscle tissue development, protein transport, protein transport, regulation of G2/M transition of mitotic cell cycle, muscle organ development, mitotic spindle assembly checkpoint, chromosome segregation, chromosome segregation, kidney development, mitotic cell cycle, 10 7 20 19 12 19 10 3 9 ENSG00000117748 chr1 27891524 27914746 - RPA2 protein_coding This gene encodes a subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The RPA complex protects single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which oligonucleotide/oligosaccharide-binding (OB) domains of the complex are utilized, and differing in the length of DNA bound. This subunit contains a single OB domain that participates in high-affinity DNA binding and also contains a winged helix domain at its carboxy terminus, which interacts with many genome maintenance protein. Post-translational modifications of the RPA complex also plays a role in co-ordinating different damage response pathways. [provided by RefSeq, Sep 2017]. 6118 GO:0035861, GO:0016605, GO:0016605, GO:0016604, GO:0005662, GO:0005662, GO:0005662, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000781, GO:0000781, site of double-strand break, PML body, PML body, nuclear body, DNA replication factor A complex, DNA replication factor A complex, DNA replication factor A complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromosome, telomeric region, chromosome, telomeric region, GO:0098505, GO:0047485, GO:0031625, GO:0019903, GO:0019899, GO:0005515, GO:0003697, GO:0003697, GO:0003697, GO:0003697, GO:0003684, G-rich strand telomeric DNA binding, protein N-terminus binding, ubiquitin protein ligase binding, protein phosphatase binding, enzyme binding, protein binding, single-stranded DNA binding, single-stranded DNA binding, single-stranded DNA binding, single-stranded DNA binding, damaged DNA binding, GO:2000001, GO:1901796, GO:1900034, GO:0070987, GO:0042769, GO:0042276, GO:0036297, GO:0034502, GO:0033683, GO:0032201, GO:0031571, GO:0019985, GO:0010569, GO:0006298, GO:0006297, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006289, GO:0006284, GO:0006283, GO:0006260, GO:0006260, GO:0006260, GO:0006260, GO:0000724, GO:0000724, GO:0000723, GO:0000723, GO:0000082, regulation of DNA damage checkpoint, regulation of signal transduction by p53 class mediator, regulation of cellular response to heat, error-free translesion synthesis, DNA damage response, detection of DNA damage, error-prone translesion synthesis, interstrand cross-link repair, protein localization to chromosome, nucleotide-excision repair, DNA incision, telomere maintenance via semi-conservative replication, mitotic G1 DNA damage checkpoint, translesion synthesis, regulation of double-strand break repair via homologous recombination, mismatch repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, nucleotide-excision repair, base-excision repair, transcription-coupled nucleotide-excision repair, DNA replication, DNA replication, DNA replication, DNA replication, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance, telomere maintenance, G1/S transition of mitotic cell cycle, 638 636 793 284 708 645 376 519 650 ENSG00000117751 chr1 27830778 27851676 + PPP1R8 protein_coding This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008]. 5511 GO:0016607, GO:0016607, GO:0005737, GO:0005681, GO:0005654, GO:0005634, nuclear speck, nuclear speck, cytoplasm, spliceosomal complex, nucleoplasm, nucleus, GO:0008995, GO:0005515, GO:0004865, GO:0004519, GO:0003729, GO:0003723, GO:0003677, ribonuclease E activity, protein binding, protein serine/threonine phosphatase inhibitor activity, endonuclease activity, mRNA binding, RNA binding, DNA binding, GO:0090501, GO:0035308, GO:0032515, GO:0008380, GO:0008283, GO:0006401, GO:0006397, RNA phosphodiester bond hydrolysis, negative regulation of protein dephosphorylation, negative regulation of phosphoprotein phosphatase activity, RNA splicing, cell population proliferation, RNA catabolic process, mRNA processing, 164 151 155 110 139 83 75 101 69 ENSG00000117758 chr1 27773183 27824452 + STX12 protein_coding 23673 GO:0098837, GO:0055038, GO:0045335, GO:0045121, GO:0031982, GO:0031901, GO:0031201, GO:0031201, GO:0031083, GO:0030285, GO:0016021, GO:0012505, GO:0008021, GO:0000407, GO:0000139, postsynaptic recycling endosome, recycling endosome membrane, phagocytic vesicle, membrane raft, vesicle, early endosome membrane, SNARE complex, SNARE complex, BLOC-1 complex, integral component of synaptic vesicle membrane, integral component of membrane, endomembrane system, synaptic vesicle, phagophore assembly site, Golgi membrane, GO:0005515, GO:0005484, GO:0000149, protein binding, SNAP receptor activity, SNARE binding, GO:0050821, GO:0048278, GO:0033344, GO:0006906, GO:0006886, GO:0000045, protein stabilization, vesicle docking, cholesterol efflux, vesicle fusion, intracellular protein transport, autophagosome assembly, 463 451 531 374 496 424 356 412 393 ENSG00000117791 chr1 220748225 220784815 + MARC2 protein_coding The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]. 54996 GO:0005777, GO:0005741, GO:0005739, GO:0005739, peroxisome, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0098809, GO:0043546, GO:0043546, GO:0030170, GO:0030151, GO:0030151, GO:0016661, GO:0008940, GO:0008940, nitrite reductase activity, molybdopterin cofactor binding, molybdopterin cofactor binding, pyridoxal phosphate binding, molybdenum ion binding, molybdenum ion binding, oxidoreductase activity, acting on other nitrogenous compounds as donors, nitrate reductase activity, nitrate reductase activity, GO:0070458, GO:0055114, GO:0055114, GO:0051410, GO:0042126, GO:0042126, GO:0006809, GO:0006805, cellular detoxification of nitrogen compound, oxidation-reduction process, oxidation-reduction process, detoxification of nitrogen compound, nitrate metabolic process, nitrate metabolic process, nitric oxide biosynthetic process, xenobiotic metabolic process, 0 0 0 1 0 0 0 0 0 ENSG00000117834 chr1 48222685 48248644 + SLC5A9 protein_coding 200010 GO:0070062, GO:0016021, GO:0005886, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, GO:0005412, GO:0005362, glucose:sodium symporter activity, low-affinity glucose:sodium symporter activity, GO:1904659, GO:0008645, GO:0006814, glucose transmembrane transport, hexose transmembrane transport, sodium ion transport, 62 38 79 7 6 9 9 9 12 ENSG00000117859 chr1 51577179 51798427 + OSBPL9 protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]. 114883 GO:0043231, GO:0043231, GO:0031902, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005794, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, late endosome membrane, membrane, cytosol, cytosol, cytosol, Golgi apparatus, GO:0032934, GO:0015248, GO:0005515, sterol binding, sterol transporter activity, protein binding, GO:0015918, GO:0006699, sterol transport, bile acid biosynthetic process, 662 854 976 511 782 711 666 536 545 ENSG00000117862 chr1 52020131 52056171 - TXNDC12 protein_coding This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]. 51060 GO:0005788, GO:0005783, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0019153, GO:0015037, GO:0015037, GO:0005515, protein-disulfide reductase (glutathione) activity, peptide disulfide oxidoreductase activity, peptide disulfide oxidoreductase activity, protein binding, GO:1902236, GO:0060548, GO:0055114, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of cell death, oxidation-reduction process, 93 73 99 36 35 38 31 41 53 ENSG00000117868 chr7 158730995 158830253 - ESYT2 protein_coding 57488 GO:0140268, GO:0044232, GO:0031234, GO:0031234, GO:0031227, GO:0031227, GO:0016020, GO:0005887, GO:0005789, endoplasmic reticulum-plasma membrane contact site, organelle membrane contact site, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, intrinsic component of endoplasmic reticulum membrane, intrinsic component of endoplasmic reticulum membrane, membrane, integral component of plasma membrane, endoplasmic reticulum membrane, GO:0045296, GO:0042802, GO:0035091, GO:0035091, GO:0031210, GO:0031210, GO:0008429, GO:0008429, GO:0005544, GO:0005544, GO:0005515, GO:0005509, GO:0005509, cadherin binding, identical protein binding, phosphatidylinositol binding, phosphatidylinositol binding, phosphatidylcholine binding, phosphatidylcholine binding, phosphatidylethanolamine binding, phosphatidylethanolamine binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, calcium ion binding, GO:0061817, GO:0006897, GO:0006869, GO:0006687, endoplasmic reticulum-plasma membrane tethering, endocytosis, lipid transport, glycosphingolipid metabolic process, 913 776 864 701 507 614 799 469 527 ENSG00000117877 chr19 45406209 45410766 + CD3EAP protein_coding 10849 GO:0005829, GO:0005739, GO:0005736, GO:0005730, GO:0005694, GO:0005654, GO:0005654, GO:0001650, GO:0000120, cytosol, mitochondrion, RNA polymerase I complex, nucleolus, chromosome, nucleoplasm, nucleoplasm, fibrillar center, RNA polymerase I transcription regulator complex, GO:0003899, GO:0003723, DNA-directed 5'-3' RNA polymerase activity, RNA binding, GO:0045815, GO:0009303, GO:0007169, GO:0006363, GO:0006362, GO:0006361, positive regulation of gene expression, epigenetic, rRNA transcription, transmembrane receptor protein tyrosine kinase signaling pathway, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, 40 51 41 65 93 69 55 48 52 ENSG00000117899 chr15 80946289 80989878 - MESD protein_coding 23184 GO:0005886, GO:0005783, plasma membrane, endoplasmic reticulum, GO:0050750, GO:0042802, GO:0005515, GO:0003674, low-density lipoprotein particle receptor binding, identical protein binding, protein binding, molecular_function, GO:1904395, GO:0034394, GO:0016055, GO:0007498, GO:0006909, GO:0006457, GO:0006457, GO:0001503, positive regulation of skeletal muscle acetylcholine-gated channel clustering, protein localization to cell surface, Wnt signaling pathway, mesoderm development, phagocytosis, protein folding, protein folding, ossification, 69 73 104 75 64 66 75 70 80 ENSG00000117906 chr15 76931619 76954392 + RCN2 protein_coding The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]. 5955 GO:0005788, GO:0005783, GO:0005783, GO:0005730, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, nucleolus, GO:0005515, GO:0005509, protein binding, calcium ion binding, 64 37 87 69 60 113 90 58 112 ENSG00000117971 chr15 78624119 78727754 - CHRNB4 protein_coding This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]. 1143 GO:0070821, GO:0045211, GO:0045202, GO:0043005, GO:0035579, GO:0016021, GO:0005892, GO:0005892, GO:0005887, GO:0005887, GO:0005886, tertiary granule membrane, postsynaptic membrane, synapse, neuron projection, specific granule membrane, integral component of membrane, acetylcholine-gated channel complex, acetylcholine-gated channel complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0044877, GO:0042166, GO:0030594, GO:0022848, GO:0022848, GO:0015464, GO:0015276, GO:0008144, GO:0005515, protein-containing complex binding, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, ligand-gated ion channel activity, drug binding, protein binding, GO:0060084, GO:0060079, GO:0051971, GO:0050877, GO:0046928, GO:0043312, GO:0042391, GO:0035095, GO:0034220, GO:0007626, GO:0007271, GO:0007268, GO:0007165, GO:0007165, GO:0006940, GO:0006939, GO:0006811, GO:0001508, synaptic transmission involved in micturition, excitatory postsynaptic potential, positive regulation of transmission of nerve impulse, nervous system process, regulation of neurotransmitter secretion, neutrophil degranulation, regulation of membrane potential, behavioral response to nicotine, ion transmembrane transport, locomotory behavior, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, signal transduction, regulation of smooth muscle contraction, smooth muscle contraction, ion transport, action potential, 0 0 0 0 0 0 0 0 0 ENSG00000117983 chr11 1223066 1262172 + MUC5B protein_coding This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]. 727897 GO:0070062, GO:0043231, GO:0031012, GO:0005886, GO:0005796, GO:0005615, GO:0005615, extracellular exosome, intracellular membrane-bounded organelle, extracellular matrix, plasma membrane, Golgi lumen, extracellular space, extracellular space, GO:0005515, protein binding, GO:0016266, GO:0002223, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 14 7 1 5 2 2 4 3 10 ENSG00000117984 chr11 1752752 1764573 - CTSD protein_coding This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]. 1509 GO:1904813, GO:1904724, GO:0070062, GO:0062023, GO:0062023, GO:0045121, GO:0043202, GO:0042470, GO:0035580, GO:0010008, GO:0005765, GO:0005764, GO:0005764, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, membrane raft, lysosomal lumen, melanosome, specific granule lumen, endosome membrane, lysosomal membrane, lysosome, lysosome, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0070001, GO:0008233, GO:0008233, GO:0005515, GO:0004190, aspartic-type peptidase activity, peptidase activity, peptidase activity, protein binding, aspartic-type endopeptidase activity, GO:0070201, GO:0043312, GO:0043280, GO:0043065, GO:0042159, GO:0030574, GO:0019886, GO:0006508, GO:0006508, regulation of establishment of protein localization, neutrophil degranulation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, lipoprotein catabolic process, collagen catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class II, proteolysis, proteolysis, 1024 1811 2082 882 1749 1155 1101 1524 1025 ENSG00000118004 chr2 3594832 3644644 + COLEC11 protein_coding This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 78989 GO:0005615, GO:0005615, GO:0005581, GO:0005576, extracellular space, extracellular space, collagen trimer, extracellular region, GO:0120153, GO:0070492, GO:0042806, GO:0005537, GO:0005515, GO:0005509, GO:0003677, calcium-dependent carbohydrate binding, oligosaccharide binding, fucose binding, mannose binding, protein binding, calcium ion binding, DNA binding, GO:0097194, GO:0032502, GO:0019730, GO:0007275, GO:0006956, GO:0006956, GO:0006898, GO:0001867, GO:0001867, execution phase of apoptosis, developmental process, antimicrobial humoral response, multicellular organism development, complement activation, complement activation, receptor-mediated endocytosis, complement activation, lectin pathway, complement activation, lectin pathway, 0 0 0 5 0 0 0 0 0 ENSG00000118007 chr3 136336233 136752403 - STAG1 protein_coding This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]. 10274 GO:0097431, GO:0016604, GO:0016363, GO:0008278, GO:0008278, GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000775, mitotic spindle pole, nuclear body, nuclear matrix, cohesin complex, cohesin complex, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromosome, centromeric region, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0090307, GO:0051301, GO:0007062, mitotic spindle assembly, cell division, sister chromatid cohesion, 680 694 838 424 507 564 500 401 416 ENSG00000118017 chr3 138123718 138132387 - A4GNT protein_coding This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]. 51146 GO:0016021, GO:0016020, GO:0000139, integral component of membrane, membrane, Golgi membrane, GO:0016758, GO:0008375, GO:0008375, GO:0008375, transferase activity, transferring hexosyl groups, acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0050680, GO:0016266, GO:0009101, GO:0006493, GO:0005975, negative regulation of epithelial cell proliferation, O-glycan processing, glycoprotein biosynthetic process, protein O-linked glycosylation, carbohydrate metabolic process, 0 0 1 0 0 0 0 0 0 ENSG00000118046 chr19 1177558 1228435 + STK11 protein_coding This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 6794 GO:0070062, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, membrane, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0030295, GO:0030275, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0002039, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein kinase activator activity, LRR domain binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, p53 binding, magnesium ion binding, GO:1904262, GO:1901796, GO:1901610, GO:1900182, GO:0120163, GO:0097484, GO:0090090, GO:0072332, GO:0071493, GO:0060770, GO:0060070, GO:0051896, GO:0051645, GO:0050852, GO:0050772, GO:0048814, GO:0046777, GO:0045059, GO:0043276, GO:0042593, GO:0032147, GO:0030511, GO:0030308, GO:0030010, GO:0030010, GO:0010508, GO:0010212, GO:0008285, GO:0007409, GO:0007283, GO:0007050, GO:0007050, GO:0006974, GO:0006914, GO:0006470, GO:0006468, GO:0001944, GO:0001894, GO:0001558, negative regulation of TORC1 signaling, regulation of signal transduction by p53 class mediator, positive regulation of vesicle transport along microtubule, positive regulation of protein localization to nucleus, negative regulation of cold-induced thermogenesis, dendrite extension, negative regulation of canonical Wnt signaling pathway, intrinsic apoptotic signaling pathway by p53 class mediator, cellular response to UV-B, negative regulation of epithelial cell proliferation involved in prostate gland development, canonical Wnt signaling pathway, regulation of protein kinase B signaling, Golgi localization, T cell receptor signaling pathway, positive regulation of axonogenesis, regulation of dendrite morphogenesis, protein autophosphorylation, positive thymic T cell selection, anoikis, glucose homeostasis, activation of protein kinase activity, positive regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell growth, establishment of cell polarity, establishment of cell polarity, positive regulation of autophagy, response to ionizing radiation, negative regulation of cell population proliferation, axonogenesis, spermatogenesis, cell cycle arrest, cell cycle arrest, cellular response to DNA damage stimulus, autophagy, protein dephosphorylation, protein phosphorylation, vasculature development, tissue homeostasis, regulation of cell growth, 441 370 520 302 330 401 341 308 337 ENSG00000118058 chr11 118436464 118526832 + KMT2A protein_coding This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]. 4297 GO:0071339, GO:0035097, GO:0035097, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, MLL1 complex, histone methyltransferase complex, histone methyltransferase complex, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0070577, GO:0045322, GO:0042803, GO:0042802, GO:0042800, GO:0042800, GO:0042800, GO:0042800, GO:0008270, GO:0005515, GO:0003680, lysine-acetylated histone binding, unmethylated CpG binding, protein homodimerization activity, identical protein binding, histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), zinc ion binding, protein binding, minor groove of adenine-thymine-rich DNA binding, GO:2001040, GO:2000615, GO:1905642, GO:1902036, GO:0097692, GO:0080182, GO:0071440, GO:0065003, GO:0051571, GO:0051568, GO:0051568, GO:0051568, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045652, GO:0044648, GO:0043984, GO:0035162, GO:0032922, GO:0032411, GO:0006915, positive regulation of cellular response to drug, regulation of histone H3-K9 acetylation, negative regulation of DNA methylation, regulation of hematopoietic stem cell differentiation, histone H3-K4 monomethylation, histone H3-K4 trimethylation, regulation of histone H3-K14 acetylation, protein-containing complex assembly, positive regulation of histone H3-K4 methylation, histone H3-K4 methylation, histone H3-K4 methylation, histone H3-K4 methylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, histone H3-K4 dimethylation, histone H4-K16 acetylation, embryonic hemopoiesis, circadian regulation of gene expression, positive regulation of transporter activity, apoptotic process, 223 201 464 441 123 531 433 186 413 ENSG00000118094 chr11 118657316 118679690 - TREH protein_coding This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 11181 GO:0070062, GO:0046658, GO:0031225, extracellular exosome, anchored component of plasma membrane, anchored component of membrane, GO:0004555, alpha,alpha-trehalase activity, GO:0009887, GO:0005993, GO:0005991, animal organ morphogenesis, trehalose catabolic process, trehalose metabolic process, 1 1 2 8 2 0 4 0 0 ENSG00000118096 chr11 118544528 118572970 - IFT46 protein_coding 56912 GO:0097542, GO:0036064, GO:0031514, GO:0031514, GO:0030992, GO:0030992, GO:0005929, GO:0005813, GO:0005737, ciliary tip, ciliary basal body, motile cilium, motile cilium, intraciliary transport particle B, intraciliary transport particle B, cilium, centrosome, cytoplasm, GO:0008022, GO:0003674, protein C-terminus binding, molecular_function, GO:0060271, GO:0060271, GO:0050821, GO:0042073, GO:0042073, GO:0035735, GO:0008150, GO:0007224, cilium assembly, cilium assembly, protein stabilization, intraciliary transport, intraciliary transport, intraciliary transport involved in cilium assembly, biological_process, smoothened signaling pathway, 16 7 17 24 25 28 27 14 15 ENSG00000118113 chr11 102711795 102727050 - MMP8 protein_coding This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 4317 GO:1904724, GO:0062023, GO:0035580, GO:0005615, GO:0005576, tertiary granule lumen, collagen-containing extracellular matrix, specific granule lumen, extracellular space, extracellular region, GO:0008270, GO:0008233, GO:0004252, GO:0004222, GO:0004175, zinc ion binding, peptidase activity, serine-type endopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:1903980, GO:1903978, GO:1903428, GO:1901224, GO:0150078, GO:0150077, GO:0046330, GO:0045429, GO:0043410, GO:0043388, GO:0043312, GO:0035987, GO:0032760, GO:0032755, GO:0032693, GO:0030574, GO:0030574, GO:0030198, GO:0022617, GO:0010629, GO:0010628, GO:0006508, positive regulation of microglial cell activation, regulation of microglial cell activation, positive regulation of reactive oxygen species biosynthetic process, positive regulation of NIK/NF-kappaB signaling, positive regulation of neuroinflammatory response, regulation of neuroinflammatory response, positive regulation of JNK cascade, positive regulation of nitric oxide biosynthetic process, positive regulation of MAPK cascade, positive regulation of DNA binding, neutrophil degranulation, endodermal cell differentiation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, negative regulation of interleukin-10 production, collagen catabolic process, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, negative regulation of gene expression, positive regulation of gene expression, proteolysis, 4 0 16 7 14 25 0 3 3 ENSG00000118137 chr11 116835751 116837950 - APOA1 protein_coding This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]. 335 GO:1903561, GO:0072562, GO:0071682, GO:0070062, GO:0062023, GO:0042627, GO:0034774, GO:0034366, GO:0034365, GO:0034364, GO:0034364, GO:0034364, GO:0034363, GO:0034362, GO:0034361, GO:0031410, GO:0030139, GO:0009986, GO:0005886, GO:0005829, GO:0005788, GO:0005769, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular vesicle, blood microparticle, endocytic vesicle lumen, extracellular exosome, collagen-containing extracellular matrix, chylomicron, secretory granule lumen, spherical high-density lipoprotein particle, discoidal high-density lipoprotein particle, high-density lipoprotein particle, high-density lipoprotein particle, high-density lipoprotein particle, intermediate-density lipoprotein particle, low-density lipoprotein particle, very-low-density lipoprotein particle, cytoplasmic vesicle, endocytic vesicle, cell surface, plasma membrane, cytosol, endoplasmic reticulum lumen, early endosome, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0120020, GO:0120020, GO:0070653, GO:0070653, GO:0060228, GO:0060228, GO:0055102, GO:0045499, GO:0042802, GO:0034191, GO:0034190, GO:0031210, GO:0031072, GO:0019899, GO:0015485, GO:0015485, GO:0008035, GO:0005543, GO:0005543, GO:0005515, GO:0005102, GO:0001540, GO:0001540, cholesterol transfer activity, cholesterol transfer activity, high-density lipoprotein particle receptor binding, high-density lipoprotein particle receptor binding, phosphatidylcholine-sterol O-acyltransferase activator activity, phosphatidylcholine-sterol O-acyltransferase activator activity, lipase inhibitor activity, chemorepellent activity, identical protein binding, apolipoprotein A-I receptor binding, apolipoprotein receptor binding, phosphatidylcholine binding, heat shock protein binding, enzyme binding, cholesterol binding, cholesterol binding, high-density lipoprotein particle binding, phospholipid binding, phospholipid binding, protein binding, signaling receptor binding, amyloid-beta binding, amyloid-beta binding, GO:1902995, GO:1900026, GO:0120009, GO:0070508, GO:0070371, GO:0070328, GO:0070328, GO:0060761, GO:0060354, GO:0060192, GO:0055091, GO:0055085, GO:0051496, GO:0051345, GO:0051180, GO:0051006, GO:0050919, GO:0050821, GO:0050766, GO:0050728, GO:0046889, GO:0046470, GO:0045723, GO:0044267, GO:0043691, GO:0043691, GO:0043687, GO:0043627, GO:0043534, GO:0042632, GO:0042632, GO:0042632, GO:0042493, GO:0042158, GO:0042157, GO:0035025, GO:0034384, GO:0034384, GO:0034380, GO:0034380, GO:0034380, GO:0034378, GO:0034375, GO:0034375, GO:0034375, GO:0034372, GO:0034371, GO:0034115, GO:0033700, GO:0033700, GO:0033344, GO:0033344, GO:0033344, GO:0032691, GO:0032489, GO:0031100, GO:0030325, GO:0030301, GO:0030300, GO:0019915, GO:0019216, GO:0018206, GO:0018158, GO:0014012, GO:0010903, GO:0010898, GO:0010875, GO:0010873, GO:0010873, GO:0010804, GO:0008211, GO:0008203, GO:0007584, GO:0007229, GO:0007186, GO:0007179, GO:0006898, GO:0006695, GO:0006656, GO:0002719, GO:0002576, GO:0001935, GO:0001932, GO:0001523, positive regulation of phospholipid efflux, positive regulation of substrate adhesion-dependent cell spreading, intermembrane lipid transfer, cholesterol import, ERK1 and ERK2 cascade, triglyceride homeostasis, triglyceride homeostasis, negative regulation of response to cytokine stimulus, negative regulation of cell adhesion molecule production, negative regulation of lipase activity, phospholipid homeostasis, transmembrane transport, positive regulation of stress fiber assembly, positive regulation of hydrolase activity, vitamin transport, positive regulation of lipoprotein lipase activity, negative chemotaxis, protein stabilization, positive regulation of phagocytosis, negative regulation of inflammatory response, positive regulation of lipid biosynthetic process, phosphatidylcholine metabolic process, positive regulation of fatty acid biosynthetic process, cellular protein metabolic process, reverse cholesterol transport, reverse cholesterol transport, post-translational protein modification, response to estrogen, blood vessel endothelial cell migration, cholesterol homeostasis, cholesterol homeostasis, cholesterol homeostasis, response to drug, lipoprotein biosynthetic process, lipoprotein metabolic process, positive regulation of Rho protein signal transduction, high-density lipoprotein particle clearance, high-density lipoprotein particle clearance, high-density lipoprotein particle assembly, high-density lipoprotein particle assembly, high-density lipoprotein particle assembly, chylomicron assembly, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, chylomicron remodeling, negative regulation of heterotypic cell-cell adhesion, phospholipid efflux, phospholipid efflux, cholesterol efflux, cholesterol efflux, cholesterol efflux, negative regulation of interleukin-1 beta production, regulation of Cdc42 protein signal transduction, animal organ regeneration, adrenal gland development, cholesterol transport, regulation of intestinal cholesterol absorption, lipid storage, regulation of lipid metabolic process, peptidyl-methionine modification, protein oxidation, peripheral nervous system axon regeneration, negative regulation of very-low-density lipoprotein particle remodeling, positive regulation of triglyceride catabolic process, positive regulation of cholesterol efflux, positive regulation of cholesterol esterification, positive regulation of cholesterol esterification, negative regulation of tumor necrosis factor-mediated signaling pathway, glucocorticoid metabolic process, cholesterol metabolic process, response to nutrient, integrin-mediated signaling pathway, G protein-coupled receptor signaling pathway, transforming growth factor beta receptor signaling pathway, receptor-mediated endocytosis, cholesterol biosynthetic process, phosphatidylcholine biosynthetic process, negative regulation of cytokine production involved in immune response, platelet degranulation, endothelial cell proliferation, regulation of protein phosphorylation, retinoid metabolic process, 1 0 0 1 4 11 11 1 5 ENSG00000118156 chr19 47520685 47555856 - ZNF541 protein_coding 84215 GO:0005667, GO:0005634, GO:0000118, GO:0000118, transcription regulator complex, nucleus, histone deacetylase complex, histone deacetylase complex, GO:0046872, GO:0005515, GO:0003714, metal ion binding, protein binding, transcription corepressor activity, GO:0045892, GO:0030154, GO:0016575, GO:0007283, GO:0007275, GO:0006357, negative regulation of transcription, DNA-templated, cell differentiation, histone deacetylation, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 1 6 4 0 0 ENSG00000118160 chr19 47428017 47472168 - SLC8A2 protein_coding 6543 GO:0098794, GO:0098793, GO:0045202, GO:0043679, GO:0043204, GO:0043197, GO:0043025, GO:0042383, GO:0030425, GO:0030424, GO:0030424, GO:0016323, GO:0016020, GO:0014069, GO:0005887, GO:0005887, GO:0005886, GO:0005886, postsynapse, presynapse, synapse, axon terminus, perikaryon, dendritic spine, neuronal cell body, sarcolemma, dendrite, axon, axon, basolateral plasma membrane, membrane, postsynaptic density, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1905060, GO:0046872, GO:0015491, GO:0015085, GO:0015081, GO:0005516, GO:0005432, GO:0005432, calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration, metal ion binding, cation:cation antiporter activity, calcium ion transmembrane transporter activity, sodium ion transmembrane transporter activity, calmodulin binding, calcium:sodium antiporter activity, calcium:sodium antiporter activity, GO:1990034, GO:1903779, GO:0150104, GO:0106056, GO:0099608, GO:0099566, GO:0098815, GO:0098703, GO:0071902, GO:0070588, GO:0070050, GO:0060291, GO:0051480, GO:0050890, GO:0050808, GO:0048172, GO:0035725, GO:0035725, GO:0030001, GO:0010468, GO:0007613, GO:0007612, GO:0007611, GO:0007154, GO:0006874, GO:0006811, GO:0002931, calcium ion export across plasma membrane, regulation of cardiac conduction, transport across blood-brain barrier, regulation of calcineurin-mediated signaling, regulation of action potential firing pattern, regulation of postsynaptic cytosolic calcium ion concentration, modulation of excitatory postsynaptic potential, calcium ion import across plasma membrane, positive regulation of protein serine/threonine kinase activity, calcium ion transmembrane transport, neuron cellular homeostasis, long-term synaptic potentiation, regulation of cytosolic calcium ion concentration, cognition, synapse organization, regulation of short-term neuronal synaptic plasticity, sodium ion transmembrane transport, sodium ion transmembrane transport, metal ion transport, regulation of gene expression, memory, learning, learning or memory, cell communication, cellular calcium ion homeostasis, ion transport, response to ischemia, 0 0 1 0 0 4 4 0 4 ENSG00000118162 chr19 47475144 47484268 - KPTN protein_coding This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]. 11133 GO:0140007, GO:0140007, GO:0098871, GO:0032420, GO:0031941, GO:0031941, GO:0030027, GO:0030027, GO:0005765, KICSTOR complex, KICSTOR complex, postsynaptic actin cytoskeleton, stereocilium, filamentous actin, filamentous actin, lamellipodium, lamellipodium, lysosomal membrane, GO:0051015, GO:0051015, actin filament binding, actin filament binding, GO:1904262, GO:1904262, GO:0061462, GO:0042149, GO:0034198, GO:0034198, GO:0007015, negative regulation of TORC1 signaling, negative regulation of TORC1 signaling, protein localization to lysosome, cellular response to glucose starvation, cellular response to amino acid starvation, cellular response to amino acid starvation, actin filament organization, 39 43 52 80 72 70 48 58 44 ENSG00000118181 chr11 119015712 119018691 - RPS25 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6230 GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0015935, GO:0014069, GO:0014069, GO:0005840, GO:0005840, GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, small ribosomal subunit, postsynaptic density, postsynaptic density, ribosome, ribosome, cytosol, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1195 596 1500 2170 874 2431 1615 915 1651 ENSG00000118193 chr1 200551497 200620734 - KIF14 protein_coding This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]. 9928 GO:0090543, GO:0051233, GO:0030496, GO:0016020, GO:0005886, GO:0005874, GO:0005874, GO:0005871, GO:0005829, GO:0005829, GO:0005634, Flemming body, spindle midzone, midbody, membrane, plasma membrane, microtubule, microtubule, kinesin complex, cytosol, cytosol, nucleus, GO:0030165, GO:0019901, GO:0016887, GO:0016887, GO:0015631, GO:0008574, GO:0008017, GO:0008017, GO:0005524, GO:0005515, GO:0003777, PDZ domain binding, protein kinase binding, ATPase activity, ATPase activity, tubulin binding, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:2000045, GO:1903429, GO:0051301, GO:0045184, GO:0043524, GO:0043523, GO:0043161, GO:0043066, GO:0034446, GO:0033624, GO:0032487, GO:0032467, GO:0032147, GO:0031641, GO:0031146, GO:0030334, GO:0030155, GO:0021987, GO:0021846, GO:0021772, GO:0021766, GO:0021695, GO:0021693, GO:0021685, GO:0010389, GO:0008284, GO:0008284, GO:0007080, GO:0007019, GO:0007018, GO:0001558, regulation of G1/S transition of mitotic cell cycle, regulation of cell maturation, cell division, establishment of protein localization, negative regulation of neuron apoptotic process, regulation of neuron apoptotic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, substrate adhesion-dependent cell spreading, negative regulation of integrin activation, regulation of Rap protein signal transduction, positive regulation of cytokinesis, activation of protein kinase activity, regulation of myelination, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, regulation of cell migration, regulation of cell adhesion, cerebral cortex development, cell proliferation in forebrain, olfactory bulb development, hippocampus development, cerebellar cortex development, cerebellar Purkinje cell layer structural organization, cerebellar granular layer structural organization, regulation of G2/M transition of mitotic cell cycle, positive regulation of cell population proliferation, positive regulation of cell population proliferation, mitotic metaphase plate congression, microtubule depolymerization, microtubule-based movement, regulation of cell growth, 4 2 5 3 6 2 2 1 3 ENSG00000118194 chr1 201359008 201377762 - TNNT2 protein_coding The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]. 7139 GO:1990584, GO:0097512, GO:0030017, GO:0005865, GO:0005861, GO:0005861, GO:0005829, cardiac Troponin complex, cardiac myofibril, sarcomere, striated muscle thin filament, troponin complex, troponin complex, cytosol, GO:0044877, GO:0031013, GO:0031013, GO:0030674, GO:0030172, GO:0030172, GO:0005523, GO:0005523, GO:0005515, GO:0003779, protein-containing complex binding, troponin I binding, troponin I binding, protein-macromolecule adaptor activity, troponin C binding, troponin C binding, tropomyosin binding, tropomyosin binding, protein binding, actin binding, GO:0060048, GO:0060048, GO:0055010, GO:0051764, GO:0051592, GO:0045214, GO:0032972, GO:0032781, GO:0032780, GO:0030049, GO:0030049, GO:0008016, GO:0006936, cardiac muscle contraction, cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, actin crosslink formation, response to calcium ion, sarcomere organization, regulation of muscle filament sliding speed, positive regulation of ATPase activity, negative regulation of ATPase activity, muscle filament sliding, muscle filament sliding, regulation of heart contraction, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000118197 chr1 200623896 200669969 - DDX59 protein_coding 83479 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0005524, GO:0003724, GO:0003723, metal ion binding, ATP binding, RNA helicase activity, RNA binding, 233 248 272 225 329 349 252 315 323 ENSG00000118200 chr1 200739558 200860704 + CAMSAP2 protein_coding 23271 GO:1990752, GO:0036449, GO:0036449, GO:0036064, GO:0005829, GO:0005813, GO:0005794, microtubule end, microtubule minus-end, microtubule minus-end, ciliary basal body, cytosol, centrosome, Golgi apparatus, GO:0051011, GO:0051011, GO:0030507, GO:0005516, GO:0005515, microtubule minus-end binding, microtubule minus-end binding, spectrin binding, calmodulin binding, protein binding, GO:1903358, GO:0061564, GO:0050773, GO:0033043, GO:0031122, GO:0031113, GO:0007026, GO:0000226, GO:0000226, regulation of Golgi organization, axon development, regulation of dendrite development, regulation of organelle organization, cytoplasmic microtubule organization, regulation of microtubule polymerization, negative regulation of microtubule depolymerization, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 1 2 7 18 7 11 15 3 12 ENSG00000118217 chr1 161766294 161964070 + ATF6 protein_coding This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]. 22926 GO:0030176, GO:0030176, GO:0016020, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0005654, GO:0005635, GO:0005634, GO:0005634, GO:0000785, GO:0000139, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, nuclear envelope, nucleus, nucleus, chromatin, Golgi membrane, GO:1990837, GO:0046982, GO:0043565, GO:0042802, GO:0035497, GO:0031625, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, protein heterodimerization activity, sequence-specific DNA binding, identical protein binding, cAMP response element binding, ubiquitin protein ligase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990440, GO:1903893, GO:0045944, GO:0043065, GO:0036500, GO:0030968, GO:0030968, GO:0010508, GO:0007601, GO:0007165, GO:0006457, GO:0006357, GO:0006357, GO:0001654, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of ATF6-mediated unfolded protein response, positive regulation of transcription by RNA polymerase II, positive regulation of apoptotic process, ATF6-mediated unfolded protein response, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, positive regulation of autophagy, visual perception, signal transduction, protein folding, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, eye development, 1553 1488 1793 608 1126 989 887 916 905 ENSG00000118231 chr2 208121607 208124501 - CRYGD protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]. 1421 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0005212, GO:0005212, protein binding, structural constituent of eye lens, structural constituent of eye lens, GO:0070306, GO:0034614, GO:0007601, GO:0007601, GO:0002088, GO:0002088, lens fiber cell differentiation, cellular response to reactive oxygen species, visual perception, visual perception, lens development in camera-type eye, lens development in camera-type eye, 0 0 0 0 0 0 3 0 0 ENSG00000118242 chr2 215942805 216034096 - MREG protein_coding 55686 GO:0042470, GO:0033162, GO:0032991, GO:0031902, GO:0031300, GO:0030659, GO:0016324, GO:0005765, melanosome, melanosome membrane, protein-containing complex, late endosome membrane, intrinsic component of organelle membrane, cytoplasmic vesicle membrane, apical plasma membrane, lysosomal membrane, GO:0035091, GO:0005515, phosphatidylinositol binding, protein binding, GO:0090382, GO:0072385, GO:0032402, GO:0032400, GO:0030318, phagosome maturation, minus-end-directed organelle transport along microtubule, melanosome transport, melanosome localization, melanocyte differentiation, 8 2 1 17 13 20 9 1 4 ENSG00000118245 chr2 216859458 216860064 - TNP1 protein_coding Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM, Mar 2008]. 7141 GO:0005634, GO:0001673, GO:0000786, GO:0000786, GO:0000786, nucleus, male germ cell nucleus, nucleosome, nucleosome, nucleosome, GO:0005515, GO:0003677, GO:0003677, protein binding, DNA binding, DNA binding, GO:0045892, GO:0035093, GO:0035042, GO:0030317, GO:0019953, GO:0010954, GO:0007290, GO:0007290, GO:0007289, GO:0007286, GO:0007275, GO:0006342, GO:0006338, GO:0006338, GO:0006337, GO:0000012, negative regulation of transcription, DNA-templated, spermatogenesis, exchange of chromosomal proteins, fertilization, exchange of chromosomal proteins, flagellated sperm motility, sexual reproduction, positive regulation of protein processing, spermatid nucleus elongation, spermatid nucleus elongation, spermatid nucleus differentiation, spermatid development, multicellular organism development, chromatin silencing, chromatin remodeling, chromatin remodeling, nucleosome disassembly, single strand break repair, 0 0 0 0 0 0 0 0 0 ENSG00000118246 chr2 206765357 206792509 + FASTKD2 protein_coding This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]. 22868 GO:0045171, GO:0042645, GO:0035770, GO:0005739, GO:0005654, intercellular bridge, mitochondrial nucleoid, ribonucleoprotein granule, mitochondrion, nucleoplasm, GO:0019843, GO:0005515, GO:0003723, rRNA binding, protein binding, RNA binding, GO:1902775, GO:0070131, GO:0044528, mitochondrial large ribosomal subunit assembly, positive regulation of mitochondrial translation, regulation of mitochondrial mRNA stability, 31 16 44 46 29 62 37 12 35 ENSG00000118257 chr2 205681990 205798133 + NRP2 protein_coding This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 8828 GO:0098978, GO:0030424, GO:0016021, GO:0016020, GO:0005886, GO:0005576, GO:0002116, glutamatergic synapse, axon, integral component of membrane, membrane, plasma membrane, extracellular region, semaphorin receptor complex, GO:0046872, GO:0038023, GO:0019955, GO:0019838, GO:0017154, GO:0008201, GO:0005515, GO:0005021, metal ion binding, signaling receptor activity, cytokine binding, growth factor binding, semaphorin receptor activity, heparin binding, protein binding, vascular endothelial growth factor-activated receptor activity, GO:1990830, GO:1904835, GO:1903375, GO:1902285, GO:1901166, GO:0099175, GO:0097491, GO:0097490, GO:0097374, GO:0061551, GO:0061549, GO:0050919, GO:0048846, GO:0048010, GO:0038084, GO:0036486, GO:0021828, GO:0021675, GO:0021649, GO:0021612, GO:0016032, GO:0010595, GO:0007411, GO:0007155, GO:0003148, GO:0001938, GO:0001525, cellular response to leukemia inhibitory factor, dorsal root ganglion morphogenesis, facioacoustic ganglion development, semaphorin-plexin signaling pathway involved in neuron projection guidance, neural crest cell migration involved in autonomic nervous system development, regulation of postsynapse organization, sympathetic neuron projection guidance, sympathetic neuron projection extension, sensory neuron axon guidance, trigeminal ganglion development, sympathetic ganglion development, negative chemotaxis, axon extension involved in axon guidance, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor signaling pathway, ventral trunk neural crest cell migration, gonadotrophin-releasing hormone neuronal migration to the hypothalamus, nerve development, vestibulocochlear nerve structural organization, facial nerve structural organization, viral process, positive regulation of endothelial cell migration, axon guidance, cell adhesion, outflow tract septum morphogenesis, positive regulation of endothelial cell proliferation, angiogenesis, 2 0 1 1 0 0 3 0 4 ENSG00000118260 chr2 207529737 207603431 + CREB1 protein_coding This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. 1385 GO:1990589, GO:1990589, GO:0030424, GO:0005759, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000791, GO:0000785, GO:0000785, ATF4-CREB1 transcription factor complex, ATF4-CREB1 transcription factor complex, axon, mitochondrial matrix, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, euchromatin, chromatin, chromatin, GO:1990837, GO:1990763, GO:0042802, GO:0035497, GO:0035497, GO:0035035, GO:0030544, GO:0019899, GO:0005515, GO:0003700, GO:0001228, GO:0001228, GO:0001225, GO:0001102, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, arrestin family protein binding, identical protein binding, cAMP response element binding, cAMP response element binding, histone acetyltransferase binding, Hsp70 protein binding, enzyme binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription coactivator binding, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990830, GO:1990314, GO:1990090, GO:1902065, GO:1901215, GO:1900273, GO:0071398, GO:0071300, GO:0071294, GO:0060509, GO:0060430, GO:0060251, GO:0055025, GO:0050821, GO:0048145, GO:0046889, GO:0046887, GO:0045944, GO:0045944, GO:0045899, GO:0045893, GO:0045672, GO:0045600, GO:0043065, GO:0042752, GO:0042493, GO:0040018, GO:0036120, GO:0035729, GO:0035094, GO:0034670, GO:0033762, GO:0033363, GO:0032916, GO:0021983, GO:0016032, GO:0014823, GO:0010944, GO:0010033, GO:0008542, GO:0008361, GO:0007623, GO:0007613, GO:0007595, GO:0007568, GO:0007409, GO:0007179, GO:0007165, GO:0006468, GO:0006366, GO:0006357, GO:0001666, cellular response to leukemia inhibitory factor, cellular response to insulin-like growth factor stimulus, cellular response to nerve growth factor stimulus, response to L-glutamate, negative regulation of neuron death, positive regulation of long-term synaptic potentiation, cellular response to fatty acid, cellular response to retinoic acid, cellular response to zinc ion, type I pneumocyte differentiation, lung saccule development, regulation of glial cell proliferation, positive regulation of cardiac muscle tissue development, protein stabilization, regulation of fibroblast proliferation, positive regulation of lipid biosynthetic process, positive regulation of hormone secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of RNA polymerase II transcription preinitiation complex assembly, positive regulation of transcription, DNA-templated, positive regulation of osteoclast differentiation, positive regulation of fat cell differentiation, positive regulation of apoptotic process, regulation of circadian rhythm, response to drug, positive regulation of multicellular organism growth, cellular response to platelet-derived growth factor stimulus, cellular response to hepatocyte growth factor stimulus, response to nicotine, chemotaxis to arachidonic acid, response to glucagon, secretory granule organization, positive regulation of transforming growth factor beta3 production, pituitary gland development, viral process, response to activity, negative regulation of transcription by competitive promoter binding, response to organic substance, visual learning, regulation of cell size, circadian rhythm, memory, lactation, aging, axonogenesis, transforming growth factor beta receptor signaling pathway, signal transduction, protein phosphorylation, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, response to hypoxia, 1833 1732 1949 1400 2154 1729 1629 1640 1639 ENSG00000118263 chr2 207074137 207167267 - KLF7 protein_coding The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 8609 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:0008270, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, zinc ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904178, GO:0061179, GO:0048813, GO:0045944, GO:0045604, GO:0042593, GO:0007411, GO:0007409, GO:0006357, GO:0000122, negative regulation of adipose tissue development, negative regulation of insulin secretion involved in cellular response to glucose stimulus, dendrite morphogenesis, positive regulation of transcription by RNA polymerase II, regulation of epidermal cell differentiation, glucose homeostasis, axon guidance, axonogenesis, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1605 1958 1524 900 1953 1502 960 1454 1191 ENSG00000118271 chr18 31557010 31599021 + TTR protein_coding This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]. 7276 GO:0070062, GO:0035578, GO:0032991, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, azurophil granule lumen, protein-containing complex, extracellular space, extracellular space, extracellular region, extracellular region, GO:0070324, GO:0044877, GO:0042802, GO:0005515, GO:0005179, thyroid hormone binding, protein-containing complex binding, identical protein binding, protein binding, hormone activity, GO:0070327, GO:0044267, GO:0043312, GO:0042572, GO:0030198, GO:0007165, GO:0006144, GO:0001523, thyroid hormone transport, cellular protein metabolic process, neutrophil degranulation, retinol metabolic process, extracellular matrix organization, signal transduction, purine nucleobase metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000118276 chr18 31622247 31685836 - B4GALT6 protein_coding This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]. 9331 GO:0032580, GO:0016021, GO:0000139, Golgi cisterna membrane, integral component of membrane, Golgi membrane, GO:0046872, GO:0008489, GO:0008489, GO:0008378, metal ion binding, UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity, UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity, galactosyltransferase activity, GO:0042551, GO:0022010, GO:0021955, GO:0018146, GO:0010706, GO:0006486, GO:0005975, GO:0001572, neuron maturation, central nervous system myelination, central nervous system neuron axonogenesis, keratan sulfate biosynthetic process, ganglioside biosynthetic process via lactosylceramide, protein glycosylation, carbohydrate metabolic process, lactosylceramide biosynthetic process, 1 0 7 8 1 12 2 2 3 ENSG00000118292 chr1 150268200 150280916 + C1orf54 protein_coding 79630 GO:0005576, extracellular region, 141 140 163 181 240 139 170 211 146 ENSG00000118298 chr1 150257159 150265078 + CA14 protein_coding Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]. 23632 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0016836, GO:0008270, GO:0004089, hydro-lyase activity, zinc ion binding, carbonate dehydratase activity, GO:0015701, GO:0006730, bicarbonate transport, one-carbon metabolic process, 5 6 8 13 18 10 6 6 22 ENSG00000118307 chr12 25108420 25195162 - CASC1 protein_coding 55259 GO:0005929, GO:0005858, cilium, axonemal dynein complex, GO:0048487, GO:0008017, GO:0005515, beta-tubulin binding, microtubule binding, protein binding, 2 4 7 0 3 3 9 7 5 ENSG00000118308 chr12 25004342 25108334 + LRMP protein_coding The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]. 4033 GO:0035577, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005815, GO:0005789, GO:0005789, GO:0005694, GO:0005635, GO:0000922, azurophil granule membrane, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, microtubule organizing center, endoplasmic reticulum membrane, endoplasmic reticulum membrane, chromosome, nuclear envelope, spindle pole, GO:0008017, microtubule binding, GO:0043312, GO:0007338, GO:0006997, GO:0006906, GO:0006903, neutrophil degranulation, single fertilization, nucleus organization, vesicle fusion, vesicle targeting, 3579 3777 4344 3525 5364 5064 3813 3818 3957 ENSG00000118322 chr5 160563120 160852214 - ATP10B protein_coding 23120 GO:0030659, GO:0016021, GO:0005886, GO:0005789, GO:0005783, cytoplasmic vesicle membrane, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0140326, GO:0005524, GO:0005515, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATP binding, protein binding, magnesium ion binding, GO:0045332, GO:0045332, phospholipid translocation, phospholipid translocation, 0 0 0 5 0 0 0 0 0 ENSG00000118363 chr11 74949247 74979031 + SPCS2 protein_coding 9789 GO:0016021, GO:0005789, GO:0005787, integral component of membrane, endoplasmic reticulum membrane, signal peptidase complex, GO:0008233, peptidase activity, GO:0045047, GO:0006465, protein targeting to ER, signal peptide processing, 156 119 175 145 159 118 105 146 93 ENSG00000118369 chr11 78188812 78214711 + USP35 protein_coding This gene encodes a member of the peptidase C19 family of ubiquitin-specific proteases. These deubiquitinating enzymes (DUBs) catalyze the removal of ubiquitin proteins from other proteins. The encoded protein associates with polarized mitochondria and has been shown to inhibit NF-kappa B activation and delay PARK2-mediated degradation of mitochondria. Expression of this gene is upregulated by the let-7a microRNA and reduced expression has been observed in human tumor tissues. [provided by RefSeq, Jul 2017]. 57558 GO:0005829, GO:0005634, cytosol, nucleus, GO:0004843, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0016579, GO:0016579, GO:0006511, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, 70 107 102 104 288 139 129 164 147 ENSG00000118402 chr6 79914812 79947580 - ELOVL4 protein_coding This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]. 6785 GO:0030176, GO:0030176, GO:0005783, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102756, GO:0102338, GO:0102337, GO:0102336, GO:0009922, GO:0009922, GO:0008020, GO:0005515, very-long-chain 3-ketoacyl-CoA synthase activity, 3-oxo-lignoceronyl-CoA synthase activity, 3-oxo-cerotoyl-CoA synthase activity, 3-oxo-arachidoyl-CoA synthase activity, fatty acid elongase activity, fatty acid elongase activity, G protein-coupled photoreceptor activity, protein binding, GO:0042761, GO:0042761, GO:0042761, GO:0035338, GO:0034626, GO:0034626, GO:0034625, GO:0030148, GO:0019367, GO:0019367, GO:0009584, GO:0006636, GO:0006633, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, sphingolipid biosynthetic process, fatty acid elongation, saturated fatty acid, fatty acid elongation, saturated fatty acid, detection of visible light, unsaturated fatty acid biosynthetic process, fatty acid biosynthetic process, 2 3 5 14 4 14 10 0 15 ENSG00000118407 chr6 75291859 75493738 - FILIP1 protein_coding This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]. 27145 GO:0015629, GO:0015629, GO:0005886, GO:0005737, GO:0005730, actin cytoskeleton, actin cytoskeleton, plasma membrane, cytoplasm, nucleolus, 2 2 0 0 0 0 0 0 0 ENSG00000118412 chr6 89829894 89874436 + CASP8AP2 protein_coding This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]. 9994 GO:0016605, GO:0016605, GO:0005739, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, PML body, PML body, mitochondrion, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0032184, GO:0016505, GO:0008656, GO:0005515, GO:0005123, GO:0003714, GO:0003714, SUMO polymer binding, peptidase activator activity involved in apoptotic process, cysteine-type endopeptidase activator activity involved in apoptotic process, protein binding, death receptor binding, transcription corepressor activity, transcription corepressor activity, GO:1903507, GO:0097190, GO:0071260, GO:0036337, GO:0036337, GO:0008625, GO:0008625, GO:0008625, GO:0007165, GO:0007049, GO:0006919, GO:0006919, GO:0006919, negative regulation of nucleic acid-templated transcription, apoptotic signaling pathway, cellular response to mechanical stimulus, Fas signaling pathway, Fas signaling pathway, extrinsic apoptotic signaling pathway via death domain receptors, extrinsic apoptotic signaling pathway via death domain receptors, extrinsic apoptotic signaling pathway via death domain receptors, signal transduction, cell cycle, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, 183 171 152 221 191 207 211 160 206 ENSG00000118418 chr6 79201245 79234738 - HMGN3 protein_coding The protein encoded by this gene binds thyroid hormone receptor beta in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is a related pseudogene on chromosome 1. [provided by RefSeq, Jan 2016]. 9324 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:0046966, GO:0031492, GO:0003682, thyroid hormone receptor binding, nucleosomal DNA binding, chromatin binding, GO:0061178, GO:0045944, GO:0008150, GO:0006325, GO:0006325, regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of transcription by RNA polymerase II, biological_process, chromatin organization, chromatin organization, 15 14 22 67 28 85 54 23 43 ENSG00000118420 chr6 82892398 83065841 - UBE3D protein_coding 90025 GO:0005829, GO:0005634, GO:0000151, GO:0000151, cytosol, nucleus, ubiquitin ligase complex, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0044390, GO:0031624, GO:0030332, GO:0030332, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin-like protein conjugating enzyme binding, ubiquitin conjugating enzyme binding, cyclin binding, cyclin binding, protein binding, GO:0051865, GO:0051865, GO:0043161, GO:0006513, GO:0006513, GO:0000209, GO:0000209, protein autoubiquitination, protein autoubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, protein monoubiquitination, protein monoubiquitination, protein polyubiquitination, protein polyubiquitination, 1 1 0 7 0 7 18 4 10 ENSG00000118432 chr6 88139864 88166359 - CNR1 protein_coding This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]. 1268 GO:0045121, GO:0042734, GO:0030426, GO:0015629, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005741, GO:0005737, membrane raft, presynaptic membrane, growth cone, actin cytoskeleton, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, mitochondrial outer membrane, cytoplasm, GO:0042802, GO:0008144, GO:0005515, GO:0004949, GO:0004949, GO:0004930, identical protein binding, drug binding, protein binding, cannabinoid receptor activity, cannabinoid receptor activity, G protein-coupled receptor activity, GO:0099553, GO:0060405, GO:0060259, GO:0060135, GO:0051966, GO:0051001, GO:0050796, GO:0045777, GO:0045776, GO:0045759, GO:0045471, GO:0043278, GO:0043065, GO:0042593, GO:0042220, GO:0038171, GO:0038171, GO:0035094, GO:0033602, GO:0033004, GO:0032496, GO:0032228, GO:0031999, GO:0031622, GO:0019233, GO:0019222, GO:0014063, GO:0010976, GO:0007613, GO:0007584, GO:0007568, GO:0007413, GO:0007283, GO:0007189, GO:0007188, GO:0007187, GO:0007186, GO:0002866, trans-synaptic signaling by endocannabinoid, modulating synaptic transmission, regulation of penile erection, regulation of feeding behavior, maternal process involved in female pregnancy, regulation of synaptic transmission, glutamatergic, negative regulation of nitric-oxide synthase activity, regulation of insulin secretion, positive regulation of blood pressure, negative regulation of blood pressure, negative regulation of action potential, response to ethanol, response to morphine, positive regulation of apoptotic process, glucose homeostasis, response to cocaine, cannabinoid signaling pathway, cannabinoid signaling pathway, response to nicotine, negative regulation of dopamine secretion, negative regulation of mast cell activation, response to lipopolysaccharide, regulation of synaptic transmission, GABAergic, negative regulation of fatty acid beta-oxidation, positive regulation of fever generation, sensory perception of pain, regulation of metabolic process, negative regulation of serotonin secretion, positive regulation of neuron projection development, memory, response to nutrient, aging, axonal fasciculation, spermatogenesis, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, positive regulation of acute inflammatory response to antigenic stimulus, 8 40 0 4 43 0 13 11 0 ENSG00000118434 chr6 88047789 88066832 + SPACA1 protein_coding The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]. 81833 GO:0016021, GO:0002080, GO:0002079, integral component of membrane, acrosomal membrane, inner acrosomal membrane, GO:0005515, protein binding, GO:0001675, acrosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000118454 chr1 70260588 70354734 - ANKRD13C protein_coding 81573 GO:0048471, GO:0005789, GO:0005783, GO:0005783, GO:0005737, perinuclear region of cytoplasm, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0005515, GO:0005102, GO:0005102, protein binding, signaling receptor binding, signaling receptor binding, GO:2000209, GO:0006621, GO:0006621, regulation of anoikis, protein retention in ER lumen, protein retention in ER lumen, 52 25 70 79 24 78 69 15 66 ENSG00000118473 chr1 66533383 66748299 + SGIP1 protein_coding SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]. 84251 GO:0030136, GO:0030136, GO:0030122, GO:0005905, GO:0005905, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005737, clathrin-coated vesicle, clathrin-coated vesicle, AP-2 adaptor complex, clathrin-coated pit, clathrin-coated pit, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytoplasm, cytoplasm, GO:0017124, GO:0008092, GO:0008017, GO:0005543, GO:0005515, SH3 domain binding, cytoskeletal protein binding, microtubule binding, phospholipid binding, protein binding, GO:2000253, GO:0097009, GO:0072583, GO:0061024, GO:0048268, GO:0048260, GO:0002021, positive regulation of feeding behavior, energy homeostasis, clathrin-dependent endocytosis, membrane organization, clathrin coat assembly, positive regulation of receptor-mediated endocytosis, response to dietary excess, 0 0 0 0 0 0 0 0 0 ENSG00000118482 chr6 63635820 63779336 + PHF3 protein_coding This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 23469 GO:0005575, cellular_component, GO:0046872, GO:0003674, metal ion binding, molecular_function, GO:0007275, GO:0006351, multicellular organism development, transcription, DNA-templated, 1653 1746 1708 1095 1664 1584 1361 1238 1311 ENSG00000118491 chr6 143864436 143938356 + ZC2HC1B protein_coding 153918 GO:0046872, GO:0005515, metal ion binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000118492 chr6 146598965 146815462 + ADGB protein_coding 79747 GO:0020037, GO:0019825, GO:0004198, heme binding, oxygen binding, calcium-dependent cysteine-type endopeptidase activity, GO:0006508, proteolysis, 2 0 1 0 1 0 0 0 0 ENSG00000118495 chr6 143940300 144064599 - PLAGL1 protein_coding This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]. 5325 GO:0043231, GO:0016604, GO:0005794, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, nuclear body, Golgi apparatus, nucleoplasm, nucleoplasm, GO:0046872, GO:0005515, GO:0003677, GO:0001228, GO:0001228, GO:0001227, GO:0000978, GO:0000977, metal ion binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0007050, GO:0006977, GO:0006915, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, apoptotic process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 755 714 879 613 729 603 641 580 645 ENSG00000118496 chr6 145793502 145814753 - FBXO30 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]. 84085 GO:0005829, cytosol, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0043687, GO:0000209, post-translational protein modification, protein polyubiquitination, 140 129 175 129 176 172 123 145 97 ENSG00000118503 chr6 137867188 137883312 + TNFAIP3 protein_coding This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]. 7128 GO:0070062, GO:0043231, GO:0005829, GO:0005764, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, intracellular membrane-bounded organelle, cytosol, lysosome, cytoplasm, nucleus, nucleus, GO:0070530, GO:0061578, GO:0061578, GO:0043621, GO:0043130, GO:0042802, GO:0019900, GO:0008270, GO:0008234, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004843, GO:0004842, GO:0003677, GO:0002020, K63-linked polyubiquitin modification-dependent protein binding, Lys63-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, protein self-association, ubiquitin binding, identical protein binding, kinase binding, zinc ion binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, ubiquitin-protein transferase activity, DNA binding, protease binding, GO:2000352, GO:2000349, GO:2000347, GO:1990168, GO:1903364, GO:1902042, GO:0090291, GO:0072666, GO:0072573, GO:0071947, GO:0071222, GO:0071108, GO:0070936, GO:0070536, GO:0070433, GO:0070429, GO:0070423, GO:0070301, GO:0061043, GO:0050869, GO:0050728, GO:0050691, GO:0048662, GO:0045824, GO:0045779, GO:0045736, GO:0045732, GO:0043124, GO:0035871, GO:0035523, GO:0034148, GO:0034144, GO:0034140, GO:0034136, GO:0032720, GO:0032715, GO:0032703, GO:0032691, GO:0032495, GO:0032480, GO:0032088, GO:0031397, GO:0030177, GO:0016579, GO:0016477, GO:0010803, GO:0007010, GO:0006954, GO:0006915, GO:0002677, GO:0002634, GO:0002237, GO:0001922, negative regulation of endothelial cell apoptotic process, negative regulation of CD40 signaling pathway, positive regulation of hepatocyte proliferation, protein K33-linked deubiquitination, positive regulation of cellular protein catabolic process, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of osteoclast proliferation, establishment of protein localization to vacuole, tolerance induction to lipopolysaccharide, protein deubiquitination involved in ubiquitin-dependent protein catabolic process, cellular response to lipopolysaccharide, protein K48-linked deubiquitination, protein K48-linked ubiquitination, protein K63-linked deubiquitination, negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, cellular response to hydrogen peroxide, regulation of vascular wound healing, negative regulation of B cell activation, negative regulation of inflammatory response, regulation of defense response to virus by host, negative regulation of smooth muscle cell proliferation, negative regulation of innate immune response, negative regulation of bone resorption, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of protein catabolic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, protein K11-linked deubiquitination, protein K29-linked deubiquitination, negative regulation of toll-like receptor 5 signaling pathway, negative regulation of toll-like receptor 4 signaling pathway, negative regulation of toll-like receptor 3 signaling pathway, negative regulation of toll-like receptor 2 signaling pathway, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-2 production, negative regulation of interleukin-1 beta production, response to muramyl dipeptide, negative regulation of type I interferon production, negative regulation of NF-kappaB transcription factor activity, negative regulation of protein ubiquitination, positive regulation of Wnt signaling pathway, protein deubiquitination, cell migration, regulation of tumor necrosis factor-mediated signaling pathway, cytoskeleton organization, inflammatory response, apoptotic process, negative regulation of chronic inflammatory response, regulation of germinal center formation, response to molecule of bacterial origin, B-1 B cell homeostasis, 2920 3266 11955 4388 6210 43664 22473 16264 56780 ENSG00000118507 chr6 131135666 131283535 + AKAP7 protein_coding This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]. 9465 GO:0098686, GO:0032991, GO:0005829, GO:0005829, GO:0005634, hippocampal mossy fiber to CA3 synapse, protein-containing complex, cytosol, cytosol, nucleus, GO:0051018, GO:0051018, GO:0034237, GO:0019901, GO:0005515, GO:0000166, protein kinase A binding, protein kinase A binding, protein kinase A regulatory subunit binding, protein kinase binding, protein binding, nucleotide binding, GO:0050804, GO:0010738, GO:0008150, modulation of chemical synaptic transmission, regulation of protein kinase A signaling, biological_process, 7 8 10 21 15 15 9 20 24 ENSG00000118508 chr6 146543693 146554965 + RAB32 protein_coding The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]. 10981 GO:0045335, GO:0044233, GO:0042470, GO:0042470, GO:0033162, GO:0033162, GO:0031905, GO:0030670, GO:0016020, GO:0012505, GO:0005829, GO:0005802, GO:0005783, GO:0005769, GO:0005741, GO:0005739, GO:0005739, phagocytic vesicle, mitochondria-associated endoplasmic reticulum membrane, melanosome, melanosome, melanosome membrane, melanosome membrane, early endosome lumen, phagocytic vesicle membrane, membrane, endomembrane system, cytosol, trans-Golgi network, endoplasmic reticulum, early endosome, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0036461, GO:0035651, GO:0035650, GO:0035612, GO:0030742, GO:0005525, GO:0005515, GO:0003924, GO:0003924, BLOC-2 complex binding, AP-3 adaptor complex binding, AP-1 adaptor complex binding, AP-2 adaptor complex binding, GTP-dependent protein binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1903232, GO:1903232, GO:0090382, GO:0072657, GO:0035646, GO:0032438, GO:0019882, GO:0016192, GO:0007005, GO:0006886, melanosome assembly, melanosome assembly, phagosome maturation, protein localization to membrane, endosome to melanosome transport, melanosome organization, antigen processing and presentation, vesicle-mediated transport, mitochondrion organization, intracellular protein transport, 228 183 279 440 475 390 551 463 459 ENSG00000118513 chr6 135181315 135219173 + MYB protein_coding This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 4602 GO:0016363, GO:0005829, GO:0005654, GO:0005654, GO:0005634, nuclear matrix, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0001228, GO:0000981, GO:0000978, GO:0000978, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902036, GO:0051574, GO:0051571, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045624, GO:0006355, GO:0006355, GO:0006338, GO:0000278, GO:0000122, regulation of hematopoietic stem cell differentiation, positive regulation of histone H3-K9 methylation, positive regulation of histone H3-K4 methylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of T-helper cell differentiation, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, chromatin remodeling, mitotic cell cycle, negative regulation of transcription by RNA polymerase II, 7 3 26 5 1 18 6 0 7 ENSG00000118514 chr6 134917390 134950122 - ALDH8A1 protein_coding This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 2018]. 64577 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0047102, GO:0001758, GO:0001758, GO:0001758, aminomuconate-semialdehyde dehydrogenase activity, retinal dehydrogenase activity, retinal dehydrogenase activity, retinal dehydrogenase activity, GO:0097053, GO:0055114, GO:0042904, GO:0042574, GO:0042573, L-kynurenine catabolic process, oxidation-reduction process, 9-cis-retinoic acid biosynthetic process, retinal metabolic process, retinoic acid metabolic process, 4 2 4 3 2 0 2 1 0 ENSG00000118515 chr6 134169246 134318112 - SGK1 protein_coding This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]. 6446 GO:0016607, GO:0005886, GO:0005829, GO:0005829, GO:0005789, GO:0005739, GO:0005737, GO:0005634, nuclear speck, plasma membrane, cytosol, cytosol, endoplasmic reticulum membrane, mitochondrion, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0017081, GO:0017080, GO:0015459, GO:0015459, GO:0005524, GO:0005515, GO:0005246, GO:0004712, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, chloride channel regulator activity, sodium channel regulator activity, potassium channel regulator activity, potassium channel regulator activity, ATP binding, protein binding, calcium channel regulator activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0070294, GO:0060453, GO:0051090, GO:0050790, GO:0048812, GO:0042981, GO:0042127, GO:0035556, GO:0034220, GO:0032411, GO:0030334, GO:0018105, GO:0008217, GO:0007616, GO:0006974, GO:0006915, GO:0006814, GO:0006468, GO:0001558, renal sodium ion absorption, regulation of gastric acid secretion, regulation of DNA-binding transcription factor activity, regulation of catalytic activity, neuron projection morphogenesis, regulation of apoptotic process, regulation of cell population proliferation, intracellular signal transduction, ion transmembrane transport, positive regulation of transporter activity, regulation of cell migration, peptidyl-serine phosphorylation, regulation of blood pressure, long-term memory, cellular response to DNA damage stimulus, apoptotic process, sodium ion transport, protein phosphorylation, regulation of cell growth, 5859 7533 13564 14440 15552 15011 12026 9692 11030 ENSG00000118518 chr6 127266610 127288567 + RNF146 protein_coding 81847 GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0072572, GO:0072572, GO:0061630, GO:0008270, GO:0005515, GO:0004842, GO:0004842, poly-ADP-D-ribose binding, poly-ADP-D-ribose binding, ubiquitin protein ligase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0090263, GO:0090263, GO:0070936, GO:0051865, GO:0016055, GO:0006511, GO:0006511, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, protein K48-linked ubiquitination, protein autoubiquitination, Wnt signaling pathway, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 602 488 621 240 305 294 190 289 232 ENSG00000118520 chr6 131573144 131584332 + ARG1 protein_coding Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 383 GO:0043025, GO:0043005, GO:0035580, GO:0035578, GO:0005829, GO:0005829, GO:0005741, GO:0005737, GO:0005634, GO:0005615, GO:0005576, neuronal cell body, neuron projection, specific granule lumen, azurophil granule lumen, cytosol, cytosol, mitochondrial outer membrane, cytoplasm, nucleus, extracellular space, extracellular region, GO:0042802, GO:0030145, GO:0005515, GO:0004053, identical protein binding, manganese ion binding, protein binding, arginase activity, GO:2000552, GO:0071560, GO:0071549, GO:0071377, GO:0071353, GO:0071222, GO:0070965, GO:0070301, GO:0060336, GO:0060135, GO:0060056, GO:0051597, GO:0048678, GO:0046686, GO:0046007, GO:0045087, GO:0043312, GO:0043200, GO:0042832, GO:0042493, GO:0042130, GO:0033197, GO:0033189, GO:0032964, GO:0030324, GO:0019547, GO:0014075, GO:0010963, GO:0010269, GO:0010043, GO:0010042, GO:0009635, GO:0007568, GO:0006527, GO:0002250, GO:0001938, GO:0001889, GO:0000050, GO:0000050, negative regulation of T-helper 2 cell cytokine production, cellular response to transforming growth factor beta stimulus, cellular response to dexamethasone stimulus, cellular response to glucagon stimulus, cellular response to interleukin-4, cellular response to lipopolysaccharide, positive regulation of neutrophil mediated killing of fungus, cellular response to hydrogen peroxide, negative regulation of interferon-gamma-mediated signaling pathway, maternal process involved in female pregnancy, mammary gland involution, response to methylmercury, response to axon injury, response to cadmium ion, negative regulation of activated T cell proliferation, innate immune response, neutrophil degranulation, response to amino acid, defense response to protozoan, response to drug, negative regulation of T cell proliferation, response to vitamin E, response to vitamin A, collagen biosynthetic process, lung development, arginine catabolic process to ornithine, response to amine, regulation of L-arginine import, response to selenium ion, response to zinc ion, response to manganese ion, response to herbicide, aging, arginine catabolic process, adaptive immune response, positive regulation of endothelial cell proliferation, liver development, urea cycle, urea cycle, 60 165 62 199 294 280 169 286 185 ENSG00000118523 chr6 131948176 131951373 - CTGF protein_coding The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]. 1490 GO:0062023, GO:0048471, GO:0031012, GO:0005938, GO:0005886, GO:0005829, GO:0005801, GO:0005615, GO:0005576, collagen-containing extracellular matrix, perinuclear region of cytoplasm, extracellular matrix, cell cortex, plasma membrane, cytosol, cis-Golgi network, extracellular space, extracellular region, GO:0008201, GO:0008083, GO:0008022, GO:0005520, GO:0005515, GO:0005178, GO:0001968, heparin binding, growth factor activity, protein C-terminus binding, insulin-like growth factor binding, protein binding, integrin binding, fibronectin binding, GO:0072593, GO:0071897, GO:0070542, GO:0070374, GO:0070318, GO:0070278, GO:0060548, GO:0060452, GO:0060401, GO:0051496, GO:0051385, GO:0050867, GO:0046330, GO:0045597, GO:0043434, GO:0043280, GO:0043200, GO:0035988, GO:0035556, GO:0034059, GO:0032967, GO:0032355, GO:0032330, GO:0030324, GO:0030154, GO:0016477, GO:0010629, GO:0010628, GO:0009749, GO:0009611, GO:0008544, GO:0008543, GO:0008284, GO:0007568, GO:0007229, GO:0007165, GO:0007160, GO:0007155, GO:0006367, GO:0001894, GO:0001525, GO:0001503, GO:0001502, reactive oxygen species metabolic process, DNA biosynthetic process, response to fatty acid, positive regulation of ERK1 and ERK2 cascade, positive regulation of G0 to G1 transition, extracellular matrix constituent secretion, negative regulation of cell death, positive regulation of cardiac muscle contraction, cytosolic calcium ion transport, positive regulation of stress fiber assembly, response to mineralocorticoid, positive regulation of cell activation, positive regulation of JNK cascade, positive regulation of cell differentiation, response to peptide hormone, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, response to amino acid, chondrocyte proliferation, intracellular signal transduction, response to anoxia, positive regulation of collagen biosynthetic process, response to estradiol, regulation of chondrocyte differentiation, lung development, cell differentiation, cell migration, negative regulation of gene expression, positive regulation of gene expression, response to glucose, response to wounding, epidermis development, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, aging, integrin-mediated signaling pathway, signal transduction, cell-matrix adhesion, cell adhesion, transcription initiation from RNA polymerase II promoter, tissue homeostasis, angiogenesis, ossification, cartilage condensation, 0 0 0 2 2 0 0 0 0 ENSG00000118526 chr6 133889138 133895553 + TCF21 protein_coding TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6943 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0070888, GO:0050681, GO:0046983, GO:0043425, GO:0042826, GO:0005515, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, androgen receptor binding, protein dimerization activity, bHLH transcription factor binding, histone deacetylase binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0072277, GO:0072162, GO:0060766, GO:0060541, GO:0060539, GO:0060435, GO:0060426, GO:0060425, GO:0060021, GO:0060008, GO:0048732, GO:0048608, GO:0048557, GO:0048536, GO:0048286, GO:0045944, GO:0032835, GO:0032502, GO:0030855, GO:0014707, GO:0007530, GO:0006357, GO:0001944, GO:0001822, GO:0001763, GO:0001658, GO:0001657, GO:0000122, metanephric glomerular capillary formation, metanephric mesenchymal cell differentiation, negative regulation of androgen receptor signaling pathway, respiratory system development, diaphragm development, bronchiole development, lung vasculature development, lung morphogenesis, roof of mouth development, Sertoli cell differentiation, gland development, reproductive structure development, embryonic digestive tract morphogenesis, spleen development, lung alveolus development, positive regulation of transcription by RNA polymerase II, glomerulus development, developmental process, epithelial cell differentiation, branchiomeric skeletal muscle development, sex determination, regulation of transcription by RNA polymerase II, vasculature development, kidney development, morphogenesis of a branching structure, branching involved in ureteric bud morphogenesis, ureteric bud development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000118557 chr16 72112157 72176878 - PMFBP1 protein_coding 83449 GO:0097224, GO:0005737, sperm connecting piece, cytoplasm, GO:0003674, molecular_function, GO:0007283, spermatogenesis, 76 73 77 121 100 139 132 79 62 ENSG00000118564 chr4 15604539 15681679 - FBXL5 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]. 26234 GO:0048471, GO:0019005, GO:0019005, GO:0005829, GO:0000151, perinuclear region of cytoplasm, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, ubiquitin ligase complex, GO:0005515, GO:0005506, GO:0004842, protein binding, iron ion binding, ubiquitin-protein transferase activity, GO:1903364, GO:0055072, GO:0055072, GO:0055072, GO:0043687, GO:0031146, GO:0031146, GO:0016567, GO:0016567, GO:0006879, GO:0000209, positive regulation of cellular protein catabolic process, iron ion homeostasis, iron ion homeostasis, iron ion homeostasis, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, cellular iron ion homeostasis, protein polyubiquitination, 9251 7118 11186 2490 4250 3213 3355 3280 2780 ENSG00000118579 chr4 17614631 17634105 + MED28 protein_coding 80306 GO:0030864, GO:0016592, GO:0016020, GO:0005654, cortical actin cytoskeleton, mediator complex, membrane, nucleoplasm, GO:0005515, GO:0003779, protein binding, actin binding, GO:0051151, GO:0019827, negative regulation of smooth muscle cell differentiation, stem cell population maintenance, 1493 1681 2014 965 1383 1246 1073 961 834 ENSG00000118596 chr12 59596067 59789855 + SLC16A7 protein_coding This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 9194 GO:0016021, GO:0005887, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0050833, GO:0015293, GO:0015129, GO:0008028, GO:0005515, GO:0005477, pyruvate transmembrane transporter activity, symporter activity, lactate transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, pyruvate secondary active transmembrane transporter activity, GO:1901475, GO:0150104, GO:0035873, GO:0015718, pyruvate transmembrane transport, transport across blood-brain barrier, lactate transmembrane transport, monocarboxylic acid transport, 46 24 62 175 37 171 128 41 164 ENSG00000118600 chr12 63779803 63809558 + RXYLT1 protein_coding This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]. 10329 GO:0005887, GO:0005794, GO:0005794, GO:0005654, GO:0000139, integral component of plasma membrane, Golgi apparatus, Golgi apparatus, nucleoplasm, Golgi membrane, GO:0120053, GO:0120053, GO:0120053, GO:0005515, ribitol beta-1,4-xylosyltransferase activity, ribitol beta-1,4-xylosyltransferase activity, ribitol beta-1,4-xylosyltransferase activity, protein binding, GO:0035269, GO:0035269, GO:0035269, protein O-linked mannosylation, protein O-linked mannosylation, protein O-linked mannosylation, 11 6 13 14 3 26 12 8 9 ENSG00000118620 chr19 21020620 21060050 + ZNF430 protein_coding 80264 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0021762, GO:0006357, GO:0006355, substantia nigra development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 180 116 180 113 77 96 149 72 49 ENSG00000118640 chr2 85561562 85582031 + VAMP8 protein_coding This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]. 8673 GO:0098594, GO:0098594, GO:0070821, GO:0070062, GO:0055038, GO:0055037, GO:0048471, GO:0035579, GO:0035577, GO:0035577, GO:0031982, GO:0031902, GO:0031901, GO:0031201, GO:0031201, GO:0030670, GO:0030667, GO:0030667, GO:0030665, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005769, GO:0005765, GO:0005737, mucin granule, mucin granule, tertiary granule membrane, extracellular exosome, recycling endosome membrane, recycling endosome, perinuclear region of cytoplasm, specific granule membrane, azurophil granule membrane, azurophil granule membrane, vesicle, late endosome membrane, early endosome membrane, SNARE complex, SNARE complex, phagocytic vesicle membrane, secretory granule membrane, secretory granule membrane, clathrin-coated vesicle membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, early endosome, lysosomal membrane, cytoplasm, GO:0019905, GO:0019869, GO:0005515, GO:0005484, syntaxin binding, chloride channel inhibitor activity, protein binding, SNAP receptor activity, GO:1903595, GO:1903531, GO:1903076, GO:0097352, GO:0070254, GO:0070254, GO:0061024, GO:0051607, GO:0046718, GO:0043312, GO:0043312, GO:0043308, GO:0035493, GO:0016240, GO:0015031, GO:0006906, GO:0006892, GO:0002479, positive regulation of histamine secretion by mast cell, negative regulation of secretion by cell, regulation of protein localization to plasma membrane, autophagosome maturation, mucus secretion, mucus secretion, membrane organization, defense response to virus, viral entry into host cell, neutrophil degranulation, neutrophil degranulation, eosinophil degranulation, SNARE complex assembly, autophagosome membrane docking, protein transport, vesicle fusion, post-Golgi vesicle-mediated transport, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 47 54 59 113 103 136 84 53 60 ENSG00000118655 chr1 113905141 113914086 + DCLRE1B protein_coding DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]. 64858 GO:0016604, GO:0005813, GO:0005737, GO:0005654, GO:0000781, GO:0000781, GO:0000781, nuclear body, centrosome, cytoplasm, nucleoplasm, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, GO:0044877, GO:0042803, GO:0035312, GO:0008409, GO:0005515, GO:0003684, protein-containing complex binding, protein homodimerization activity, 5'-3' exodeoxyribonuclease activity, 5'-3' exonuclease activity, protein binding, damaged DNA binding, GO:0090305, GO:0036297, GO:0036297, GO:0031860, GO:0031848, GO:0031848, GO:0031627, GO:0016233, GO:0010833, GO:0007093, GO:0006303, GO:0000723, nucleic acid phosphodiester bond hydrolysis, interstrand cross-link repair, interstrand cross-link repair, telomeric 3' overhang formation, protection from non-homologous end joining at telomere, protection from non-homologous end joining at telomere, telomeric loop formation, telomere capping, telomere maintenance via telomere lengthening, mitotic cell cycle checkpoint, double-strand break repair via nonhomologous end joining, telomere maintenance, 11 13 19 7 13 7 6 8 0 ENSG00000118680 chr18 3261479 3278431 + MYL12B protein_coding The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]. 103910 GO:0099738, GO:0070062, GO:0045177, GO:0030018, GO:0016460, GO:0005903, GO:0005829, GO:0001725, cell cortex region, extracellular exosome, apical part of cell, Z disc, myosin II complex, brush border, cytosol, stress fiber, GO:0032036, GO:0005515, GO:0005509, myosin heavy chain binding, protein binding, calcium ion binding, GO:0008360, GO:0006936, regulation of cell shape, muscle contraction, 3531 2633 3627 1393 2118 1612 1719 2089 1549 ENSG00000118689 chr6 108559835 108684774 + FOXO3 protein_coding This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]. 2309 GO:0032991, GO:0005829, GO:0005829, GO:0005759, GO:0005759, GO:0005741, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, cytosol, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0034246, GO:0031490, GO:0019901, GO:0008013, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001227, GO:0001221, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, mitochondrial transcription factor activity, chromatin DNA binding, protein kinase binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription cofactor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000353, GO:2000177, GO:1990785, GO:1990090, GO:1904646, GO:1903428, GO:1902895, GO:1901300, GO:0097192, GO:0097150, GO:0090090, GO:0071548, GO:0071456, GO:0071386, GO:0071333, GO:0070542, GO:0048854, GO:0045944, GO:0045893, GO:0045665, GO:0045648, GO:0043525, GO:0043065, GO:0042594, GO:0042493, GO:0042149, GO:0034599, GO:0033209, GO:0030336, GO:0030330, GO:0019221, GO:0014737, GO:0010508, GO:0007568, GO:0006417, GO:0006390, GO:0006357, GO:0006357, GO:0001556, GO:0001547, GO:0001544, GO:0001542, GO:0000122, GO:0000122, positive regulation of endothelial cell apoptotic process, regulation of neural precursor cell proliferation, response to water-immersion restraint stress, cellular response to nerve growth factor stimulus, cellular response to amyloid-beta, positive regulation of reactive oxygen species biosynthetic process, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of hydrogen peroxide-mediated programmed cell death, extrinsic apoptotic signaling pathway in absence of ligand, neuronal stem cell population maintenance, negative regulation of canonical Wnt signaling pathway, response to dexamethasone, cellular response to hypoxia, cellular response to corticosterone stimulus, cellular response to glucose stimulus, response to fatty acid, brain morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of neuron differentiation, positive regulation of erythrocyte differentiation, positive regulation of neuron apoptotic process, positive regulation of apoptotic process, response to starvation, response to drug, cellular response to glucose starvation, cellular response to oxidative stress, tumor necrosis factor-mediated signaling pathway, negative regulation of cell migration, DNA damage response, signal transduction by p53 class mediator, cytokine-mediated signaling pathway, positive regulation of muscle atrophy, positive regulation of autophagy, aging, regulation of translation, mitochondrial transcription, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, oocyte maturation, antral ovarian follicle growth, initiation of primordial ovarian follicle growth, ovulation from ovarian follicle, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 4895 4398 9212 2007 3836 4165 2245 2694 3065 ENSG00000118690 chr6 108848416 108974472 + ARMC2 protein_coding 84071 GO:0005515, protein binding, GO:0044782, GO:0007288, GO:0007288, cilium organization, sperm axoneme assembly, sperm axoneme assembly, 122 108 104 124 147 121 138 113 102 ENSG00000118702 chr20 37251082 37261835 - GHRH protein_coding This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 2691 GO:0043204, GO:0043195, GO:0043195, GO:0005615, GO:0005615, GO:0005576, GO:0005576, perikaryon, terminal bouton, terminal bouton, extracellular space, extracellular space, extracellular region, extracellular region, GO:0051428, GO:0031770, GO:0031770, GO:0016608, GO:0016608, GO:0005184, peptide hormone receptor binding, growth hormone-releasing hormone receptor binding, growth hormone-releasing hormone receptor binding, growth hormone-releasing hormone activity, growth hormone-releasing hormone activity, neuropeptide hormone activity, GO:0060124, GO:0060124, GO:0060124, GO:0060124, GO:0046005, GO:0046005, GO:0043568, GO:0040018, GO:0040018, GO:0032094, GO:0030252, GO:0030252, GO:0021984, GO:0008284, GO:0008284, GO:0007267, GO:0007189, GO:0007189, GO:0007189, GO:0007186, positive regulation of growth hormone secretion, positive regulation of growth hormone secretion, positive regulation of growth hormone secretion, positive regulation of growth hormone secretion, positive regulation of circadian sleep/wake cycle, REM sleep, positive regulation of circadian sleep/wake cycle, REM sleep, positive regulation of insulin-like growth factor receptor signaling pathway, positive regulation of multicellular organism growth, positive regulation of multicellular organism growth, response to food, growth hormone secretion, growth hormone secretion, adenohypophysis development, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000118705 chr20 37178410 37241623 + RPN2 protein_coding This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 6185 GO:0016021, GO:0016020, GO:0008250, GO:0008250, GO:0008250, GO:0005791, GO:0005789, GO:0000421, integral component of membrane, membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, oligosaccharyltransferase complex, rough endoplasmic reticulum, endoplasmic reticulum membrane, autophagosome membrane, GO:0043022, GO:0005515, GO:0004579, ribosome binding, protein binding, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, GO:0042493, GO:0018279, GO:0018279, GO:0007568, GO:0006487, GO:0006487, GO:0006464, response to drug, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, aging, protein N-linked glycosylation, protein N-linked glycosylation, cellular protein modification process, 243 252 286 233 181 274 184 181 256 ENSG00000118707 chr20 36573488 36593950 + TGIF2 protein_coding The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene. [provided by RefSeq, Dec 2010]. 60436 GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, centrosome, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060041, GO:0045666, GO:0038092, GO:0010470, GO:0006357, GO:0006355, GO:0000122, GO:0000122, retina development in camera-type eye, positive regulation of neuron differentiation, nodal signaling pathway, regulation of gastrulation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 714 578 1471 581 346 879 533 259 517 ENSG00000118729 chr1 115700007 115768781 - CASQ2 protein_coding The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]. 845 GO:0034704, GO:0033018, GO:0033018, GO:0033017, GO:0030314, GO:0030018, GO:0030018, GO:0016529, GO:0014701, GO:0005737, calcium channel complex, sarcoplasmic reticulum lumen, sarcoplasmic reticulum lumen, sarcoplasmic reticulum membrane, junctional membrane complex, Z disc, Z disc, sarcoplasmic reticulum, junctional sarcoplasmic reticulum membrane, cytoplasm, GO:0048306, GO:0042803, GO:0005515, GO:0005509, GO:0005509, calcium-dependent protein binding, protein homodimerization activity, protein binding, calcium ion binding, calcium ion binding, GO:1903779, GO:1901017, GO:0086029, GO:0071313, GO:0060315, GO:0060315, GO:0060306, GO:0060048, GO:0051279, GO:0051258, GO:0051208, GO:0051208, GO:0045214, GO:0043267, GO:0034220, GO:0010881, GO:0010881, GO:0010880, GO:0010649, GO:0006941, GO:0005513, GO:0002027, regulation of cardiac conduction, negative regulation of potassium ion transmembrane transporter activity, Purkinje myocyte to ventricular cardiac muscle cell signaling, cellular response to caffeine, negative regulation of ryanodine-sensitive calcium-release channel activity, negative regulation of ryanodine-sensitive calcium-release channel activity, regulation of membrane repolarization, cardiac muscle contraction, regulation of release of sequestered calcium ion into cytosol, protein polymerization, sequestering of calcium ion, sequestering of calcium ion, sarcomere organization, negative regulation of potassium ion transport, ion transmembrane transport, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of cell communication by electrical coupling, striated muscle contraction, detection of calcium ion, regulation of heart rate, 0 0 0 0 0 0 0 0 0 ENSG00000118733 chr1 101802574 101997030 - OLFM3 protein_coding 118427 GO:0045202, GO:0032281, GO:0005794, GO:0005615, synapse, AMPA glutamate receptor complex, Golgi apparatus, extracellular space, GO:0005515, protein binding, GO:0042462, eye photoreceptor cell development, 0 0 0 0 0 0 0 0 0 ENSG00000118762 chr4 88007668 88077777 + PKD2 protein_coding This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]. 5311 GO:0097730, GO:0072686, GO:0071556, GO:0071458, GO:0070062, GO:0060170, GO:0045180, GO:0036064, GO:0034703, GO:0031941, GO:0031514, GO:0030659, GO:0030027, GO:0016020, GO:0009925, GO:0005929, GO:0005929, GO:0005911, GO:0005887, GO:0005887, GO:0005886, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0005737, GO:0005737, GO:0002133, non-motile cilium, mitotic spindle, integral component of lumenal side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, extracellular exosome, ciliary membrane, basal cortex, ciliary basal body, cation channel complex, filamentous actin, motile cilium, cytoplasmic vesicle membrane, lamellipodium, membrane, basal plasma membrane, cilium, cilium, cell-cell junction, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, cytoplasm, polycystin complex, GO:0051371, GO:0051219, GO:0051117, GO:0048763, GO:0044325, GO:0043398, GO:0042805, GO:0042803, GO:0042802, GO:0042802, GO:0022843, GO:0015271, GO:0008092, GO:0005515, GO:0005509, GO:0005509, GO:0005509, GO:0005267, GO:0005267, GO:0005267, GO:0005262, GO:0005261, GO:0005249, GO:0005248, GO:0005248, GO:0005248, GO:0005245, GO:0005245, GO:0005244, GO:0005102, GO:0005102, muscle alpha-actinin binding, phosphoprotein binding, ATPase binding, calcium-induced calcium release activity, ion channel binding, HLH domain binding, actinin binding, protein homodimerization activity, identical protein binding, identical protein binding, voltage-gated cation channel activity, outward rectifier potassium channel activity, cytoskeletal protein binding, protein binding, calcium ion binding, calcium ion binding, calcium ion binding, potassium channel activity, potassium channel activity, potassium channel activity, calcium channel activity, cation channel activity, voltage-gated potassium channel activity, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, voltage-gated ion channel activity, signaling receptor binding, signaling receptor binding, GO:2000134, GO:0198738, GO:0098662, GO:0090279, GO:0072284, GO:0072235, GO:0072219, GO:0072218, GO:0072214, GO:0072208, GO:0072177, GO:0072164, GO:0072075, GO:0071910, GO:0071805, GO:0071805, GO:0071805, GO:0071805, GO:0071498, GO:0071470, GO:0071464, GO:0071320, GO:0071277, GO:0071158, GO:0070588, GO:0061441, GO:0061333, GO:0060674, GO:0060315, GO:0051298, GO:0051290, GO:0051289, GO:0051262, GO:0051209, GO:0051209, GO:0051209, GO:0050982, GO:0050982, GO:0045944, GO:0045944, GO:0045737, GO:0045429, GO:0044782, GO:0042994, GO:0042127, GO:0035904, GO:0035725, GO:0035725, GO:0035502, GO:0034614, GO:0031587, GO:0021915, GO:0021510, GO:0016055, GO:0008285, GO:0007507, GO:0007368, GO:0007259, GO:0007050, GO:0006816, GO:0006816, GO:0003127, GO:0001947, GO:0001892, GO:0001889, GO:0001658, negative regulation of G1/S transition of mitotic cell cycle, cell-cell signaling by wnt, inorganic cation transmembrane transport, regulation of calcium ion import, metanephric S-shaped body morphogenesis, metanephric distal tubule development, metanephric cortical collecting duct development, metanephric ascending thin limb development, metanephric cortex development, metanephric smooth muscle tissue development, mesonephric duct development, mesonephric tubule development, metanephric mesenchyme development, determination of liver left/right asymmetry, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to fluid shear stress, cellular response to osmotic stress, cellular response to hydrostatic pressure, cellular response to cAMP, cellular response to calcium ion, positive regulation of cell cycle arrest, calcium ion transmembrane transport, renal artery morphogenesis, renal tubule morphogenesis, placenta blood vessel development, negative regulation of ryanodine-sensitive calcium-release channel activity, centrosome duplication, protein heterotetramerization, protein homotetramerization, protein tetramerization, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, detection of mechanical stimulus, detection of mechanical stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of nitric oxide biosynthetic process, cilium organization, cytoplasmic sequestering of transcription factor, regulation of cell population proliferation, aorta development, sodium ion transmembrane transport, sodium ion transmembrane transport, metanephric part of ureteric bud development, cellular response to reactive oxygen species, positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, neural tube development, spinal cord development, Wnt signaling pathway, negative regulation of cell population proliferation, heart development, determination of left/right symmetry, receptor signaling pathway via JAK-STAT, cell cycle arrest, calcium ion transport, calcium ion transport, detection of nodal flow, heart looping, embryonic placenta development, liver development, branching involved in ureteric bud morphogenesis, 71 101 89 63 98 74 78 60 72 ENSG00000118777 chr4 88090264 88231322 - ABCG2 protein_coding The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 9429 GO:0098591, GO:0045121, GO:0031966, GO:0031526, GO:0016324, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005654, external side of apical plasma membrane, membrane raft, mitochondrial membrane, brush border membrane, apical plasma membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0042910, GO:0042803, GO:0042802, GO:0042626, GO:0032217, GO:0015562, GO:0015562, GO:0015225, GO:0015143, GO:0008559, GO:0005524, GO:0005515, xenobiotic transmembrane transporter activity, protein homodimerization activity, identical protein binding, ATPase-coupled transmembrane transporter activity, riboflavin transmembrane transporter activity, efflux transmembrane transporter activity, efflux transmembrane transporter activity, biotin transmembrane transporter activity, urate transmembrane transporter activity, ATPase-coupled xenobiotic transmembrane transporter activity, ATP binding, protein binding, GO:1990962, GO:1990962, GO:1990748, GO:0150104, GO:0140115, GO:0097744, GO:0070633, GO:0055085, GO:0046415, GO:0032218, GO:0015878, GO:0015747, GO:0006879, xenobiotic transport across blood-brain barrier, xenobiotic transport across blood-brain barrier, cellular detoxification, transport across blood-brain barrier, export across plasma membrane, urate salt excretion, transepithelial transport, transmembrane transport, urate metabolic process, riboflavin transport, biotin transport, urate transport, cellular iron ion homeostasis, 0 2 0 9 0 12 7 0 0 ENSG00000118785 chr4 87975650 87983426 + SPP1 protein_coding The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 6696 GO:0070062, GO:0048471, GO:0042995, GO:0005794, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, cell projection, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0050840, GO:0005515, GO:0005178, GO:0005125, extracellular matrix binding, protein binding, integrin binding, cytokine activity, GO:2000866, GO:0071394, GO:0048685, GO:0048545, GO:0046697, GO:0045893, GO:0045780, GO:0044267, GO:0043687, GO:0033280, GO:0031214, GO:0030198, GO:0007566, GO:0007165, GO:0007155, GO:0007155, GO:0006954, GO:0006710, GO:0001649, positive regulation of estradiol secretion, cellular response to testosterone stimulus, negative regulation of collateral sprouting of intact axon in response to injury, response to steroid hormone, decidualization, positive regulation of transcription, DNA-templated, positive regulation of bone resorption, cellular protein metabolic process, post-translational protein modification, response to vitamin D, biomineral tissue development, extracellular matrix organization, embryo implantation, signal transduction, cell adhesion, cell adhesion, inflammatory response, androgen catabolic process, osteoblast differentiation, 18 30 72 9 43 43 17 52 16 ENSG00000118804 chr4 76306026 76311599 + STBD1 protein_coding 8987 GO:0101003, GO:0070821, GO:0048471, GO:0034045, GO:0030315, GO:0016020, GO:0016020, GO:0005887, GO:0005886, GO:0005829, GO:0005789, GO:0005783, ficolin-1-rich granule membrane, tertiary granule membrane, perinuclear region of cytoplasm, phagophore assembly site membrane, T-tubule, membrane, membrane, integral component of plasma membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:2001070, GO:2001069, GO:0030247, GO:0019899, GO:0005515, starch binding, glycogen binding, polysaccharide binding, enzyme binding, protein binding, GO:0061723, GO:0046907, GO:0043312, GO:0005980, glycophagy, intracellular transport, neutrophil degranulation, glycogen catabolic process, 1 0 0 0 3 0 0 0 0 ENSG00000118816 chr4 77047158 77076005 - CCNI protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]. 10983 GO:0031965, GO:0005737, GO:0005634, GO:0000307, nuclear membrane, cytoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0044772, GO:0007283, GO:0000079, mitotic cell cycle phase transition, spermatogenesis, regulation of cyclin-dependent protein serine/threonine kinase activity, 5910 5839 6985 2678 3835 3386 3244 3292 2721 ENSG00000118849 chr3 158696892 158732696 - RARRES1 protein_coding This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 5918 GO:0070062, GO:0016021, GO:0005615, extracellular exosome, integral component of membrane, extracellular space, GO:0008191, GO:0005515, metalloendopeptidase inhibitor activity, protein binding, GO:0010951, GO:0008285, negative regulation of endopeptidase activity, negative regulation of cell population proliferation, 0 1 0 0 3 0 0 1 0 ENSG00000118855 chr3 158732198 158829719 + MFSD1 protein_coding 64747 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, transmembrane transport, 741 848 836 558 778 750 562 644 457 ENSG00000118873 chr1 220148293 220272454 - RAB3GAP2 protein_coding The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]. 25782 GO:0032991, GO:0005886, GO:0005829, GO:0005829, GO:0005789, protein-containing complex, plasma membrane, cytosol, cytosol, endoplasmic reticulum membrane, GO:0031267, GO:0030234, GO:0008047, GO:0005515, GO:0005515, GO:0005096, GO:0005085, small GTPase binding, enzyme regulator activity, enzyme activator activity, protein binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:2000786, GO:1903373, GO:1903061, GO:0097051, GO:0043547, GO:0043087, GO:0043087, GO:0006886, positive regulation of autophagosome assembly, positive regulation of endoplasmic reticulum tubular network organization, positive regulation of protein lipidation, establishment of protein localization to endoplasmic reticulum membrane, positive regulation of GTPase activity, regulation of GTPase activity, regulation of GTPase activity, intracellular protein transport, 369 379 463 330 421 448 297 299 339 ENSG00000118894 chr16 5084304 5097808 - EEF2KMT protein_coding 196483 GO:0032991, GO:0005829, GO:0005737, protein-containing complex, cytosol, cytoplasm, GO:0016279, GO:0016279, GO:0016279, GO:0005515, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, GO:0018023, GO:0018023, GO:0006479, peptidyl-lysine trimethylation, peptidyl-lysine trimethylation, protein methylation, 6 0 3 8 7 13 8 5 2 ENSG00000118898 chr16 4882507 4960741 - PPL protein_coding The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]. 5493 GO:0070062, GO:0030057, GO:0016020, GO:0005886, GO:0005882, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0001533, extracellular exosome, desmosome, membrane, plasma membrane, intermediate filament, cytoskeleton, cytosol, cytoplasm, cytoplasm, cornified envelope, GO:0045296, GO:0005515, GO:0005200, GO:0005198, cadherin binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, GO:0070268, GO:0045104, GO:0042060, GO:0009612, cornification, intermediate filament cytoskeleton organization, wound healing, response to mechanical stimulus, 129 251 139 60 152 82 131 132 96 ENSG00000118900 chr16 4846665 4882360 + UBN1 protein_coding Cellular senescence is a hallmark of tumor suppression and tissue aging. Senescent cells contain domains of heterochromatin, called senescence-associated heterochromatin foci (SAHF), that repress proliferation-promoting genes. The protein encoded by this gene binds to proliferation-promoting genes and is required for SAHF formation, enhancing methylation of histone H3. [provided by RefSeq, Oct 2016]. 29855 GO:0016605, GO:0016604, GO:0005923, GO:0005654, GO:0005654, GO:0005634, PML body, nuclear body, bicellular tight junction, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0016032, GO:0006336, viral process, DNA replication-independent nucleosome assembly, 5564 5689 6294 3392 4770 4243 4144 3650 3355 ENSG00000118903 chr13 76928066 76928836 + BTF3P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000118922 chr13 73686089 73995056 - KLF12 protein_coding Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 11278 GO:0005829, GO:0005654, GO:0000785, GO:0000785, cytosol, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 119 86 247 384 96 483 402 97 308 ENSG00000118939 chr13 75549480 75606020 + UCHL3 protein_coding The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]. 7347 GO:0005829, GO:0005829, GO:0005737, GO:0005654, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0043130, GO:0019784, GO:0008233, GO:0005515, GO:0004843, GO:0004843, GO:0004843, ubiquitin binding, NEDD8-specific protease activity, peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0043687, GO:0030163, GO:0016579, GO:0016579, GO:0016579, GO:0016567, GO:0006511, post-translational protein modification, protein catabolic process, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, 1 6 0 6 1 14 6 6 7 ENSG00000118946 chr13 57631810 57729311 + PCDH17 protein_coding This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]. 27253 GO:0099056, GO:0098982, GO:0098978, GO:0005887, integral component of presynaptic membrane, GABA-ergic synapse, glutamatergic synapse, integral component of plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:2000807, GO:1904071, GO:0050805, GO:0030534, GO:0007156, GO:0007155, regulation of synaptic vesicle clustering, presynaptic active zone assembly, negative regulation of synaptic transmission, adult behavior, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 1 3 0 0 0 0 0 0 0 ENSG00000118960 chr2 20560448 20651089 - HS1BP3 protein_coding The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]. 64342 GO:0005783, GO:0005739, endoplasmic reticulum, mitochondrion, GO:0035091, GO:0005515, phosphatidylinositol binding, protein binding, GO:0042981, regulation of apoptotic process, 350 384 369 124 250 142 138 277 163 ENSG00000118961 chr2 20684014 20823130 - LDAH protein_coding 60526 GO:0005811, GO:0005811, GO:0005783, lipid droplet, lipid droplet, endoplasmic reticulum, GO:0016298, lipase activity, GO:0019915, GO:0016042, lipid storage, lipid catabolic process, 11 4 12 36 8 23 18 11 26 ENSG00000118965 chr2 19910260 19990131 - WDR35 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]. 57539 GO:0097542, GO:0036064, GO:0030991, GO:0030991, GO:0005930, GO:0005930, GO:0005929, GO:0005813, ciliary tip, ciliary basal body, intraciliary transport particle A, intraciliary transport particle A, axoneme, axoneme, cilium, centrosome, GO:0005515, protein binding, GO:1990830, GO:1905705, GO:0097756, GO:0097421, GO:0090200, GO:0071356, GO:0071333, GO:0061512, GO:0060271, GO:0060271, GO:0045019, GO:0043280, GO:0042073, GO:0035735, GO:0035721, GO:0035721, GO:0032496, GO:0010629, GO:0009636, cellular response to leukemia inhibitory factor, cellular response to paclitaxel, negative regulation of blood vessel diameter, liver regeneration, positive regulation of release of cytochrome c from mitochondria, cellular response to tumor necrosis factor, cellular response to glucose stimulus, protein localization to cilium, cilium assembly, cilium assembly, negative regulation of nitric oxide biosynthetic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, intraciliary transport, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, intraciliary retrograde transport, response to lipopolysaccharide, negative regulation of gene expression, response to toxic substance, 60 36 93 56 44 62 71 38 62 ENSG00000118971 chr12 4273772 4305350 + CCND2 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]. 894 GO:0031965, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000307, GO:0000307, nuclear membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, chromatin, cyclin-dependent protein kinase holoenzyme complex, cyclin-dependent protein kinase holoenzyme complex, GO:0019901, GO:0016538, GO:0005515, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:1900087, GO:1900087, GO:0051301, GO:0045737, GO:0044772, GO:0043066, GO:0008284, GO:0001934, GO:0000079, positive regulation of G1/S transition of mitotic cell cycle, positive regulation of G1/S transition of mitotic cell cycle, cell division, positive regulation of cyclin-dependent protein serine/threonine kinase activity, mitotic cell cycle phase transition, negative regulation of apoptotic process, positive regulation of cell population proliferation, positive regulation of protein phosphorylation, regulation of cyclin-dependent protein serine/threonine kinase activity, 189 178 418 233 128 247 217 126 196 ENSG00000118972 chr12 4368227 4379728 - FGF23 protein_coding This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]. 8074 GO:0005796, GO:0005788, GO:0005737, GO:0005615, GO:0005615, GO:0005576, Golgi lumen, endoplasmic reticulum lumen, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005105, GO:0005104, growth factor activity, protein binding, type 1 fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:1904383, GO:0090080, GO:0071374, GO:0071354, GO:0071305, GO:0070374, GO:0055062, GO:0051897, GO:0046888, GO:0045893, GO:0045668, GO:0044320, GO:0044267, GO:0043687, GO:0042369, GO:0032026, GO:0030643, GO:0030502, GO:0030334, GO:0030154, GO:0010980, GO:0010966, GO:0010628, GO:0009887, GO:0008543, GO:0008543, GO:0008284, GO:0001934, GO:0000165, response to sodium phosphate, positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway, cellular response to parathyroid hormone stimulus, cellular response to interleukin-6, cellular response to vitamin D, positive regulation of ERK1 and ERK2 cascade, phosphate ion homeostasis, positive regulation of protein kinase B signaling, negative regulation of hormone secretion, positive regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, cellular response to leptin stimulus, cellular protein metabolic process, post-translational protein modification, vitamin D catabolic process, response to magnesium ion, cellular phosphate ion homeostasis, negative regulation of bone mineralization, regulation of cell migration, cell differentiation, positive regulation of vitamin D 24-hydroxylase activity, regulation of phosphate transport, positive regulation of gene expression, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000118976 chr12 3839459 3842525 + OTUD4P1 processed_pseudogene 1 0 5 0 2 2 1 1 0 ENSG00000118985 chr5 95885098 95962071 - ELL2 protein_coding 22936 GO:0008023, GO:0005654, GO:0005654, transcription elongation factor complex, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0042795, GO:0042795, GO:0006368, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, transcription elongation from RNA polymerase II promoter, 1267 1055 2609 897 861 1653 909 610 1123 ENSG00000118990 chr5 161751448 161751768 - GLRXP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000118997 chr2 195737703 196068812 - DNAH7 protein_coding DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]. 56171 GO:0036156, GO:0036156, GO:0030286, GO:0005929, GO:0005874, GO:0005858, GO:0005829, inner dynein arm, inner dynein arm, dynein complex, cilium, microtubule, axonemal dynein complex, cytosol, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0005509, GO:0003777, GO:0003777, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, calcium ion binding, microtubule motor activity, microtubule motor activity, GO:0060285, GO:0036159, GO:0007018, GO:0003341, GO:0003341, cilium-dependent cell motility, inner dynein arm assembly, microtubule-based movement, cilium movement, cilium movement, 32 39 26 14 28 35 25 26 7 ENSG00000119004 chr2 203238940 203305611 + CYP20A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]. 57404 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0020037, GO:0016705, GO:0005506, GO:0004497, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, iron ion binding, monooxygenase activity, GO:0055114, oxidation-reduction process, 40 30 41 62 33 79 44 32 63 ENSG00000119013 chr2 201071433 201085750 + NDUFB3 protein_coding This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]. 4709 GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 350 227 324 166 229 202 186 233 178 ENSG00000119041 chr2 196763032 196799725 - GTF3C3 protein_coding The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 9330 GO:0031965, GO:0005730, GO:0005654, GO:0005654, GO:0000127, GO:0000127, nuclear membrane, nucleolus, nucleoplasm, nucleoplasm, transcription factor TFIIIC complex, transcription factor TFIIIC complex, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0042797, GO:0042791, GO:0006383, GO:0006383, tRNA transcription by RNA polymerase III, 5S class rRNA transcription by RNA polymerase III, transcription by RNA polymerase III, transcription by RNA polymerase III, 28 41 57 91 30 76 73 36 66 ENSG00000119042 chr2 199269500 199471266 - SATB2 protein_coding This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]. 23314 GO:0016363, GO:0005667, GO:0005654, GO:0005654, GO:0000785, GO:0000785, GO:0000118, nuclear matrix, transcription regulator complex, nucleoplasm, nucleoplasm, chromatin, chromatin, histone deacetylase complex, GO:0042826, GO:0005515, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, histone deacetylase binding, protein binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071310, GO:0060021, GO:0051216, GO:0048704, GO:0045944, GO:0021902, GO:0009880, GO:0006357, GO:0006338, GO:0002076, GO:0001764, cellular response to organic substance, roof of mouth development, cartilage development, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, commitment of neuronal cell to specific neuron type in forebrain, embryonic pattern specification, regulation of transcription by RNA polymerase II, chromatin remodeling, osteoblast development, neuron migration, 0 1 3 0 0 0 0 0 1 ENSG00000119048 chr5 134371179 134391992 + UBE2B protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008]. 7320 GO:0033503, GO:0033503, GO:0005886, GO:0005737, GO:0005657, GO:0005654, GO:0005634, GO:0001741, GO:0000785, GO:0000785, HULC complex, HULC complex, plasma membrane, cytoplasm, replication fork, nucleoplasm, nucleus, XY body, chromatin, chromatin, GO:0061631, GO:0031625, GO:0005524, GO:0005515, GO:0004842, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0090263, GO:0070979, GO:0070936, GO:0070829, GO:0070534, GO:0070193, GO:0070076, GO:0051865, GO:0051026, GO:0050821, GO:0045141, GO:0043951, GO:0043161, GO:0043161, GO:0043066, GO:0042769, GO:0042493, GO:0033522, GO:0033128, GO:0016574, GO:0016567, GO:0016567, GO:0010845, GO:0009411, GO:0007288, GO:0007283, GO:0006974, GO:0006513, GO:0006511, GO:0006511, GO:0006301, GO:0006301, GO:0006281, GO:0006281, GO:0001701, GO:0000209, GO:0000209, positive regulation of canonical Wnt signaling pathway, protein K11-linked ubiquitination, protein K48-linked ubiquitination, heterochromatin maintenance, protein K63-linked ubiquitination, synaptonemal complex organization, histone lysine demethylation, protein autoubiquitination, chiasma assembly, protein stabilization, meiotic telomere clustering, negative regulation of cAMP-mediated signaling, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, DNA damage response, detection of DNA damage, response to drug, histone H2A ubiquitination, negative regulation of histone phosphorylation, histone ubiquitination, protein ubiquitination, protein ubiquitination, positive regulation of reciprocal meiotic recombination, response to UV, sperm axoneme assembly, spermatogenesis, cellular response to DNA damage stimulus, protein monoubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, postreplication repair, postreplication repair, DNA repair, DNA repair, in utero embryonic development, protein polyubiquitination, protein polyubiquitination, 4305 3808 4122 4567 5379 4102 4524 3998 3152 ENSG00000119121 chr9 74722495 74888094 - TRPM6 protein_coding This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]. 140803 GO:0031526, GO:0016324, GO:0005887, GO:0005886, brush border membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0005262, GO:0005261, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, calcium channel activity, cation channel activity, GO:0098655, GO:0070838, GO:0070588, GO:0051262, GO:0009636, GO:0006468, cation transmembrane transport, divalent metal ion transport, calcium ion transmembrane transport, protein tetramerization, response to toxic substance, protein phosphorylation, 606 760 1457 483 920 1194 522 688 944 ENSG00000119125 chr9 72114595 72257193 + GDA protein_coding This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 9615 GO:0005829, GO:0005622, cytosol, intracellular anatomical structure, GO:0019239, GO:0008892, GO:0008270, deaminase activity, guanine deaminase activity, zinc ion binding, GO:0046098, GO:0007399, GO:0006195, GO:0006147, GO:0006139, guanine metabolic process, nervous system development, purine nucleotide catabolic process, guanine catabolic process, nucleobase-containing compound metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000119138 chr9 70384597 70414624 - KLF9 protein_coding The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq, Jul 2008]. 687 GO:0005886, GO:0005829, GO:0005654, GO:0005634, GO:0000785, GO:0000785, plasma membrane, cytosol, nucleoplasm, nucleus, chromatin, chromatin, GO:0046872, GO:0003700, GO:0000981, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097067, GO:0071387, GO:0010839, GO:0007623, GO:0006357, cellular response to thyroid hormone stimulus, cellular response to cortisol stimulus, negative regulation of keratinocyte proliferation, circadian rhythm, regulation of transcription by RNA polymerase II, 45 44 100 95 33 118 64 43 92 ENSG00000119139 chr9 69121264 69274615 + TJP2 protein_coding This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 9414 GO:0044291, GO:0005923, GO:0005923, GO:0005912, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005654, GO:0005634, cell-cell contact zone, bicellular tight junction, bicellular tight junction, adherens junction, plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, nucleus, GO:1990782, GO:0050839, GO:0045296, GO:0030674, GO:0019904, GO:0005515, GO:0004385, protein tyrosine kinase binding, cell adhesion molecule binding, cadherin binding, protein-macromolecule adaptor activity, protein domain specific binding, protein binding, guanylate kinase activity, GO:1905605, GO:1905605, GO:0150105, GO:0098609, GO:0090559, GO:0090557, GO:0090557, GO:0050892, GO:0046710, GO:0046037, GO:0045216, GO:0035633, GO:0035329, GO:0034109, positive regulation of blood-brain barrier permeability, positive regulation of blood-brain barrier permeability, protein localization to cell-cell junction, cell-cell adhesion, regulation of membrane permeability, establishment of endothelial intestinal barrier, establishment of endothelial intestinal barrier, intestinal absorption, GDP metabolic process, GMP metabolic process, cell-cell junction organization, maintenance of blood-brain barrier, hippo signaling, homotypic cell-cell adhesion, 0 1 2 5 6 14 1 3 1 ENSG00000119147 chr2 106063246 106078159 + C2orf40 protein_coding 84417 GO:0016324, GO:0005737, GO:0005615, apical plasma membrane, cytoplasm, extracellular space, GO:0005515, protein binding, GO:0090398, GO:0070314, GO:0042127, GO:0031145, GO:0007417, cellular senescence, G1 to G0 transition, regulation of cell population proliferation, anaphase-promoting complex-dependent catabolic process, central nervous system development, 0 0 0 2 0 0 0 4 0 ENSG00000119185 chr2 9403475 9423547 - ITGB1BP1 protein_coding The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]. 9270 GO:0071944, GO:0048471, GO:0034451, GO:0030027, GO:0016604, GO:0016020, GO:0005925, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0001726, cell periphery, perinuclear region of cytoplasm, centriolar satellite, lamellipodium, nuclear body, membrane, focal adhesion, plasma membrane, cytoskeleton, cytosol, cytoplasm, nucleoplasm, nucleus, ruffle, GO:0019901, GO:0005515, GO:0005178, GO:0005178, GO:0005092, protein kinase binding, protein binding, integrin binding, integrin binding, GDP-dissociation inhibitor activity, GO:2001044, GO:1900025, GO:0097746, GO:0090315, GO:0090314, GO:0090051, GO:0072659, GO:0070373, GO:0051897, GO:0051895, GO:0051894, GO:0051781, GO:0051496, GO:0051451, GO:0045944, GO:0045747, GO:0044344, GO:0043113, GO:0043087, GO:0035924, GO:0035556, GO:0035148, GO:0033628, GO:0033622, GO:0032148, GO:0032091, GO:0031214, GO:0030154, GO:0016477, GO:0010764, GO:0010595, GO:0008285, GO:0008284, GO:0007229, GO:0007219, GO:0007160, GO:0006933, GO:0006469, GO:0002043, regulation of integrin-mediated signaling pathway, negative regulation of substrate adhesion-dependent cell spreading, blood vessel diameter maintenance, negative regulation of protein targeting to membrane, positive regulation of protein targeting to membrane, negative regulation of cell migration involved in sprouting angiogenesis, protein localization to plasma membrane, negative regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, negative regulation of focal adhesion assembly, positive regulation of focal adhesion assembly, positive regulation of cell division, positive regulation of stress fiber assembly, myoblast migration, positive regulation of transcription by RNA polymerase II, positive regulation of Notch signaling pathway, cellular response to fibroblast growth factor stimulus, receptor clustering, regulation of GTPase activity, cellular response to vascular endothelial growth factor stimulus, intracellular signal transduction, tube formation, regulation of cell adhesion mediated by integrin, integrin activation, activation of protein kinase B activity, negative regulation of protein binding, biomineral tissue development, cell differentiation, cell migration, negative regulation of fibroblast migration, positive regulation of endothelial cell migration, negative regulation of cell population proliferation, positive regulation of cell population proliferation, integrin-mediated signaling pathway, Notch signaling pathway, cell-matrix adhesion, negative regulation of cell adhesion involved in substrate-bound cell migration, negative regulation of protein kinase activity, blood vessel endothelial cell proliferation involved in sprouting angiogenesis, 86 62 78 99 33 94 60 53 96 ENSG00000119203 chr2 9423568 9473101 + CPSF3 protein_coding This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]. 51692 GO:0005847, GO:0005847, GO:0005654, mRNA cleavage and polyadenylation specificity factor complex, mRNA cleavage and polyadenylation specificity factor complex, nucleoplasm, GO:0046872, GO:0008409, GO:0008409, GO:0005515, GO:0004521, GO:0004521, GO:0003723, GO:0003723, metal ion binding, 5'-3' exonuclease activity, 5'-3' exonuclease activity, protein binding, endoribonuclease activity, endoribonuclease activity, RNA binding, RNA binding, GO:0090502, GO:0031124, GO:0006406, GO:0006398, GO:0006398, GO:0006379, GO:0006378, GO:0006369, GO:0000398, RNA phosphodiester bond hydrolysis, endonucleolytic, mRNA 3'-end processing, mRNA export from nucleus, mRNA 3'-end processing by stem-loop binding and cleavage, mRNA 3'-end processing by stem-loop binding and cleavage, mRNA cleavage, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 42 41 49 42 32 62 46 21 66 ENSG00000119227 chr3 196946343 196969060 - PIGZ protein_coding The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]. 80235 GO:0016021, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0000030, GO:0000030, GO:0000030, GO:0000026, GO:0000026, mannosyltransferase activity, mannosyltransferase activity, mannosyltransferase activity, alpha-1,2-mannosyltransferase activity, alpha-1,2-mannosyltransferase activity, GO:0097502, GO:0016254, GO:0006506, GO:0006506, GO:0006506, mannosylation, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 2 2 1 2 3 8 5 3 6 ENSG00000119231 chr3 196867856 196934714 + SENP5 protein_coding The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]. 205564 GO:0005886, GO:0005730, GO:0005654, GO:0005634, plasma membrane, nucleolus, nucleoplasm, nucleus, GO:0019783, GO:0016929, GO:0005515, ubiquitin-like protein-specific protease activity, SUMO-specific protease activity, protein binding, GO:0051301, GO:0016926, GO:0016925, GO:0007049, cell division, protein desumoylation, protein sumoylation, cell cycle, 667 602 1096 425 467 586 430 332 437 ENSG00000119242 chr12 123918660 123972831 - CCDC92 protein_coding 80212 GO:0043231, GO:0005814, GO:0005814, GO:0005813, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, centriole, centriole, centrosome, cytoplasm, nucleoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, 7 10 16 12 10 1 11 1 15 ENSG00000119280 chr1 230837119 230869589 - C1orf198 protein_coding 84886 GO:0005829, cytosol, 6 3 14 9 7 6 15 1 3 ENSG00000119283 chr1 231162112 231221556 + TRIM67 protein_coding 440730 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0008270, zinc ion binding, GO:2000060, GO:1903827, GO:0046580, GO:0010976, positive regulation of ubiquitin-dependent protein catabolic process, regulation of cellular protein localization, negative regulation of Ras protein signal transduction, positive regulation of neuron projection development, 0 0 0 3 1 2 1 3 0 ENSG00000119285 chr1 236549005 236604504 - HEATR1 protein_coding 55127 GO:0034455, GO:0032040, GO:0030686, GO:0016020, GO:0005739, GO:0005730, GO:0005654, GO:0001650, t-UTP complex, small-subunit processome, 90S preribosome, membrane, mitochondrion, nucleolus, nucleoplasm, fibrillar center, GO:0030515, GO:0005515, GO:0003723, snoRNA binding, protein binding, RNA binding, GO:2000234, GO:0045943, GO:0045943, GO:0006364, GO:0000462, positive regulation of rRNA processing, positive regulation of transcription by RNA polymerase I, positive regulation of transcription by RNA polymerase I, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 195 190 306 288 179 310 265 147 248 ENSG00000119314 chr9 112217716 112333667 - PTBP3 protein_coding The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 9991 GO:0005634, nucleus, GO:0003729, GO:0003723, mRNA binding, RNA binding, GO:0048025, GO:0045595, GO:0043484, GO:0043249, GO:0033119, GO:0009653, GO:0008380, GO:0006417, GO:0006397, negative regulation of mRNA splicing, via spliceosome, regulation of cell differentiation, regulation of RNA splicing, erythrocyte maturation, negative regulation of RNA splicing, anatomical structure morphogenesis, RNA splicing, regulation of translation, mRNA processing, 4401 4811 5457 1631 3255 2636 2281 2671 2508 ENSG00000119318 chr9 107283137 107332194 + RAD23B protein_coding The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]. 5887 GO:0071942, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000502, XPC complex, cytosol, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, proteasome complex, GO:0070628, GO:0043130, GO:0031593, GO:0031593, GO:0005515, GO:0003697, GO:0003684, proteasome binding, ubiquitin binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, protein binding, single-stranded DNA binding, damaged DNA binding, GO:0098761, GO:0070911, GO:0048568, GO:0043161, GO:0032434, GO:0016579, GO:0007283, GO:0006457, GO:0006294, GO:0006289, GO:0000717, GO:0000715, GO:0000715, cellular response to interleukin-7, global genome nucleotide-excision repair, embryonic organ development, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of proteasomal ubiquitin-dependent protein catabolic process, protein deubiquitination, spermatogenesis, protein folding, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, nucleotide-excision repair, DNA damage recognition, 1476 954 1463 430 576 578 573 635 532 ENSG00000119321 chr9 113161006 113221361 - FKBP15 protein_coding 23307 GO:0030426, GO:0016020, GO:0016020, GO:0005884, GO:0005769, growth cone, membrane, membrane, actin filament, early endosome, GO:0005515, GO:0003779, GO:0003755, protein binding, actin binding, peptidyl-prolyl cis-trans isomerase activity, GO:0010923, GO:0006897, GO:0000413, negative regulation of phosphatase activity, endocytosis, protein peptidyl-prolyl isomerization, 2384 2677 2959 2091 3140 3008 2352 2543 2724 ENSG00000119326 chr9 108942569 109013529 - CTNNAL1 protein_coding 8727 GO:0005886, GO:0005856, GO:0005829, plasma membrane, cytoskeleton, cytosol, GO:0051015, GO:0045296, GO:0005515, actin filament binding, cadherin binding, protein binding, GO:0007266, GO:0007155, Rho protein signal transduction, cell adhesion, 86 39 122 39 16 43 37 16 40 ENSG00000119328 chr9 108934181 108950744 + FAM206A protein_coding 54942 GO:0032433, GO:0032433, GO:0030426, GO:0030425, GO:0030027, GO:0030027, GO:0016607, GO:0005634, filopodium tip, filopodium tip, growth cone, dendrite, lamellipodium, lamellipodium, nuclear speck, nucleus, GO:0051015, GO:0051015, GO:0005515, GO:0003785, GO:0003785, actin filament binding, actin filament binding, protein binding, actin monomer binding, actin monomer binding, GO:0051489, GO:0051489, GO:0048813, GO:0048813, GO:0030833, GO:0030833, regulation of filopodium assembly, regulation of filopodium assembly, dendrite morphogenesis, dendrite morphogenesis, regulation of actin filament polymerization, regulation of actin filament polymerization, 139 118 139 71 117 49 59 95 76 ENSG00000119333 chr9 128633661 128656787 - WDR34 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]. 89891 GO:0097542, GO:0097014, GO:0036064, GO:0036064, GO:0030175, GO:0005930, GO:0005929, GO:0005929, GO:0005868, GO:0005868, GO:0005829, GO:0005814, GO:0005813, GO:0005737, ciliary tip, ciliary plasm, ciliary basal body, ciliary basal body, filopodium, axoneme, cilium, cilium, cytoplasmic dynein complex, cytoplasmic dynein complex, cytosol, centriole, centrosome, cytoplasm, GO:0045504, GO:0045503, GO:0045503, GO:0005515, dynein heavy chain binding, dynein light chain binding, dynein light chain binding, protein binding, GO:0060271, GO:0042073, GO:0035735, GO:0035721, GO:0007018, cilium assembly, intraciliary transport, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, microtubule-based movement, 13 14 19 22 20 45 15 19 12 ENSG00000119335 chr9 128683424 128696400 + SET protein_coding The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 6418 GO:0048471, GO:0032991, GO:0005829, GO:0005811, GO:0005783, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, perinuclear region of cytoplasm, protein-containing complex, cytosol, lipid droplet, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, nucleus, GO:0042393, GO:0042393, GO:0019888, GO:0005515, GO:0004864, GO:0003682, GO:0003677, histone binding, histone binding, protein phosphatase regulator activity, protein binding, protein phosphatase inhibitor activity, chromatin binding, DNA binding, GO:0045892, GO:0043524, GO:0043488, GO:0035067, GO:0032515, GO:0016032, GO:0006337, GO:0006334, GO:0006260, negative regulation of transcription, DNA-templated, negative regulation of neuron apoptotic process, regulation of mRNA stability, negative regulation of histone acetylation, negative regulation of phosphoprotein phosphatase activity, viral process, nucleosome disassembly, nucleosome assembly, DNA replication, 1242 1178 1260 663 752 818 682 730 656 ENSG00000119383 chr9 129110950 129148946 + PTPA protein_coding Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 5524 GO:0070062, GO:0034704, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000159, GO:0000159, extracellular exosome, calcium channel complex, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0051721, GO:0042803, GO:0019888, GO:0019888, GO:0016887, GO:0008160, GO:0008160, GO:0005524, GO:0005515, GO:0005102, GO:0003755, protein phosphatase 2A binding, protein homodimerization activity, protein phosphatase regulator activity, protein phosphatase regulator activity, ATPase activity, protein tyrosine phosphatase activator activity, protein tyrosine phosphatase activator activity, ATP binding, protein binding, signaling receptor binding, peptidyl-prolyl cis-trans isomerase activity, GO:0043666, GO:0043065, GO:0035308, GO:0035307, GO:0032516, GO:0032515, GO:0007052, GO:0000413, regulation of phosphoprotein phosphatase activity, positive regulation of apoptotic process, negative regulation of protein dephosphorylation, positive regulation of protein dephosphorylation, positive regulation of phosphoprotein phosphatase activity, negative regulation of phosphoprotein phosphatase activity, mitotic spindle organization, protein peptidyl-prolyl isomerization, 76 99 130 99 84 123 125 90 97 ENSG00000119392 chr9 128504700 128542288 + GLE1 protein_coding This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2733 GO:0044614, GO:0036064, GO:0031965, GO:0016020, GO:0005829, GO:0005814, GO:0005813, GO:0005737, GO:0005730, GO:0005643, GO:0005635, GO:0005615, nuclear pore cytoplasmic filaments, ciliary basal body, nuclear membrane, membrane, cytosol, centriole, centrosome, cytoplasm, nucleolus, nuclear pore, nuclear envelope, extracellular space, GO:0042802, GO:0031369, GO:0005543, GO:0005515, GO:0000822, identical protein binding, translation initiation factor binding, phospholipid binding, protein binding, inositol hexakisphosphate binding, GO:0016973, GO:0006449, GO:0006446, GO:0006406, poly(A)+ mRNA export from nucleus, regulation of translational termination, regulation of translational initiation, mRNA export from nucleus, 353 298 389 158 276 249 211 199 222 ENSG00000119396 chr9 121178137 121223014 - RAB14 protein_coding RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]. 51552 GO:0070821, GO:0070062, GO:0055038, GO:0055037, GO:0048471, GO:0045335, GO:0045335, GO:0043231, GO:0042175, GO:0031901, GO:0030140, GO:0012505, GO:0005929, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005802, GO:0005795, GO:0005791, GO:0005770, GO:0005769, GO:0005769, GO:0005765, GO:0005764, GO:0000139, tertiary granule membrane, extracellular exosome, recycling endosome membrane, recycling endosome, perinuclear region of cytoplasm, phagocytic vesicle, phagocytic vesicle, intracellular membrane-bounded organelle, nuclear outer membrane-endoplasmic reticulum membrane network, early endosome membrane, trans-Golgi network transport vesicle, endomembrane system, cilium, plasma membrane, plasma membrane, cytosol, cytosol, trans-Golgi network, Golgi stack, rough endoplasmic reticulum, late endosome, early endosome, early endosome, lysosomal membrane, lysosome, Golgi membrane, GO:0031489, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, myosin V binding, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:0090387, GO:0046907, GO:0045995, GO:0043312, GO:0042742, GO:0032880, GO:0032456, GO:0016192, GO:0008543, GO:0006895, GO:0006895, GO:0006895, GO:0006886, GO:0006661, phagolysosome assembly involved in apoptotic cell clearance, intracellular transport, regulation of embryonic development, neutrophil degranulation, defense response to bacterium, regulation of protein localization, endocytic recycling, vesicle-mediated transport, fibroblast growth factor receptor signaling pathway, Golgi to endosome transport, Golgi to endosome transport, Golgi to endosome transport, intracellular protein transport, phosphatidylinositol biosynthetic process, 1010 723 1147 363 552 404 453 464 371 ENSG00000119397 chr9 121074863 121177610 + CNTRL protein_coding This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]. 11064 GO:0120103, GO:0090543, GO:0016020, GO:0005829, GO:0005829, GO:0005815, GO:0005813, centriolar subdistal appendage, Flemming body, membrane, cytosol, cytosol, microtubule organizing center, centrosome, GO:0008092, GO:0005515, cytoskeletal protein binding, protein binding, GO:0097711, GO:0051493, GO:0051301, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, regulation of cytoskeleton organization, cell division, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 392 399 570 578 395 656 505 283 436 ENSG00000119401 chr9 116687302 116701300 + TRIM32 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]. 22954 GO:0005863, GO:0005829, GO:0005737, GO:0005737, GO:0005634, striated muscle myosin thick filament, cytosol, cytoplasm, cytoplasm, nucleus, GO:0061630, GO:0061630, GO:0043621, GO:0043130, GO:0042802, GO:0031369, GO:0030957, GO:0017022, GO:0008270, GO:0005515, GO:0004842, GO:0003723, GO:0003713, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein self-association, ubiquitin binding, identical protein binding, translation initiation factor binding, Tat protein binding, myosin binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, RNA binding, transcription coactivator activity, GO:2000147, GO:1903886, GO:1903883, GO:1903508, GO:1903265, GO:1902230, GO:1902187, GO:0070936, GO:0061564, GO:0051155, GO:0051092, GO:0051092, GO:0051092, GO:0051091, GO:0050769, GO:0048147, GO:0046716, GO:0045862, GO:0045787, GO:0045732, GO:0045666, GO:0045444, GO:0045087, GO:0045087, GO:0043123, GO:0034612, GO:0032897, GO:0032479, GO:0030335, GO:0030307, GO:0016567, GO:0009411, GO:0007014, GO:0006511, GO:0001894, GO:0000209, positive regulation of cell motility, positive regulation of chemokine (C-C motif) ligand 20 production, positive regulation of interleukin-17-mediated signaling pathway, positive regulation of nucleic acid-templated transcription, positive regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of viral release from host cell, protein K48-linked ubiquitination, axon development, positive regulation of striated muscle cell differentiation, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of neurogenesis, negative regulation of fibroblast proliferation, muscle cell cellular homeostasis, positive regulation of proteolysis, positive regulation of cell cycle, positive regulation of protein catabolic process, positive regulation of neuron differentiation, fat cell differentiation, innate immune response, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, response to tumor necrosis factor, negative regulation of viral transcription, regulation of type I interferon production, positive regulation of cell migration, positive regulation of cell growth, protein ubiquitination, response to UV, actin ubiquitination, ubiquitin-dependent protein catabolic process, tissue homeostasis, protein polyubiquitination, 5 10 12 15 7 29 24 6 16 ENSG00000119402 chr9 120751978 120793412 - FBXW2 protein_coding F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]. 26190 GO:0005829, cytosol, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0043687, GO:0006508, GO:0006464, GO:0000209, post-translational protein modification, proteolysis, cellular protein modification process, protein polyubiquitination, 695 671 913 380 578 578 512 361 454 ENSG00000119403 chr9 120855652 120894896 - PHF19 protein_coding 26147 GO:0035098, GO:0035098, GO:0005654, GO:0005634, ESC/E(Z) complex, ESC/E(Z) complex, nucleoplasm, nucleus, GO:0046872, GO:0035064, GO:0035064, GO:0005515, GO:0003682, GO:0003677, metal ion binding, methylated histone binding, methylated histone binding, protein binding, chromatin binding, DNA binding, GO:0061087, GO:0045814, GO:0006355, GO:0006325, positive regulation of histone H3-K27 methylation, negative regulation of gene expression, epigenetic, regulation of transcription, DNA-templated, chromatin organization, 63 68 140 118 69 158 156 51 109 ENSG00000119408 chr9 124257606 124353307 + NEK6 protein_coding The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 10783 GO:0043231, GO:0034451, GO:0032991, GO:0016607, GO:0005874, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0000922, intracellular membrane-bounded organelle, centriolar satellite, protein-containing complex, nuclear speck, microtubule, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, spindle pole, GO:0106311, GO:0106310, GO:0033613, GO:0031625, GO:0019901, GO:0019894, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0001222, GO:0000287, protein threonine kinase activity, protein serine kinase activity, activating transcription factor binding, ubiquitin protein ligase binding, protein kinase binding, kinesin binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, transcription corepressor binding, magnesium ion binding, GO:2000772, GO:0051301, GO:0051225, GO:0046777, GO:0043123, GO:0030071, GO:0018105, GO:0007346, GO:0007077, GO:0007059, GO:0006915, GO:0006468, regulation of cellular senescence, cell division, spindle assembly, protein autophosphorylation, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of mitotic metaphase/anaphase transition, peptidyl-serine phosphorylation, regulation of mitotic cell cycle, mitotic nuclear envelope disassembly, chromosome segregation, apoptotic process, protein phosphorylation, 446 893 1081 160 445 395 194 437 385 ENSG00000119411 chr9 113349541 113371233 + BSPRY protein_coding 54836 GO:0048471, GO:0031252, GO:0016020, GO:0005737, perinuclear region of cytoplasm, cell leading edge, membrane, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:1990830, GO:0016567, GO:0006816, cellular response to leukemia inhibitory factor, protein ubiquitination, calcium ion transport, 0 0 2 5 0 1 0 0 0 ENSG00000119414 chr9 125146573 125189939 - PPP6C protein_coding This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]. 5537 GO:0005829, GO:0005829, GO:0005739, GO:0000139, cytosol, cytosol, mitochondrion, Golgi membrane, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004722, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:0048208, GO:0045087, GO:0006470, GO:0000082, COPII vesicle coating, innate immune response, protein dephosphorylation, G1/S transition of mitotic cell cycle, 978 937 1198 456 666 640 525 598 588 ENSG00000119421 chr9 122144058 122159819 - NDUFA8 protein_coding The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 4702 GO:0005758, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial intermembrane space, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0044877, GO:0008137, GO:0005515, protein-containing complex binding, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 14 4 9 22 10 32 12 7 19 ENSG00000119431 chr9 113373419 113376999 - HDHD3 protein_coding 81932 GO:0043231, GO:0005730, intracellular membrane-bounded organelle, nucleolus, GO:0016787, GO:0005515, hydrolase activity, protein binding, 9 18 22 16 21 26 16 11 13 ENSG00000119440 chr9 133224905 133228591 - LCN1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000119446 chr9 122237624 122264839 - RBM18 protein_coding 92400 GO:0003723, RNA binding, 294 224 290 108 202 211 124 173 121 ENSG00000119457 chr9 112878920 112890913 - SLC46A2 protein_coding 57864 GO:0016021, GO:0009986, GO:0005886, integral component of membrane, cell surface, plasma membrane, GO:0015293, symporter activity, GO:0070430, GO:0070233, GO:0055085, GO:0048538, GO:0045580, GO:0043029, positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway, negative regulation of T cell apoptotic process, transmembrane transport, thymus development, regulation of T cell differentiation, T cell homeostasis, 14 19 43 8 33 50 27 27 18 ENSG00000119471 chr9 112379937 112472410 + HSDL2 protein_coding 84263 GO:0016020, GO:0005777, GO:0005739, GO:0005739, membrane, peroxisome, mitochondrion, mitochondrion, GO:0016491, GO:0003674, oxidoreductase activity, molecular_function, GO:0055114, GO:0008150, oxidation-reduction process, biological_process, 1416 1296 1417 427 895 663 544 879 751 ENSG00000119487 chr9 125437393 125707234 - MAPKAP1 protein_coding This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]. 79109 GO:0031932, GO:0031410, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005654, TORC2 complex, cytoplasmic vesicle, plasma membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, GO:0080025, GO:0070300, GO:0043325, GO:0031267, GO:0019901, GO:0005547, GO:0005546, GO:0005546, GO:0005515, phosphatidylinositol-3,5-bisphosphate binding, phosphatidic acid binding, phosphatidylinositol-3,4-bisphosphate binding, small GTPase binding, protein kinase binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:1900407, GO:0046580, GO:0038203, GO:0033138, GO:0032148, GO:0030950, GO:0021762, regulation of cellular response to oxidative stress, negative regulation of Ras protein signal transduction, TORC2 signaling, positive regulation of peptidyl-serine phosphorylation, activation of protein kinase B activity, establishment or maintenance of actin cytoskeleton polarity, substantia nigra development, 249 233 300 128 208 230 228 217 186 ENSG00000119508 chr9 99821855 99866891 + NR4A3 protein_coding This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 8013 GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:0042803, GO:0035497, GO:0035259, GO:0035035, GO:0019901, GO:0008270, GO:0005515, GO:0004879, GO:0003707, GO:0003677, GO:0001228, GO:0001223, GO:0000981, GO:0000981, GO:0000978, protein homodimerization activity, cAMP response element binding, glucocorticoid receptor binding, histone acetyltransferase binding, protein kinase binding, zinc ion binding, protein binding, nuclear receptor activity, steroid hormone receptor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, transcription coactivator binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000253, GO:2000108, GO:1904754, GO:1904707, GO:1903208, GO:1900625, GO:0097009, GO:0071870, GO:0071376, GO:0071376, GO:0061469, GO:0060005, GO:0050885, GO:0050679, GO:0048752, GO:0048661, GO:0048660, GO:0048008, GO:0046321, GO:0045944, GO:0045787, GO:0045652, GO:0045444, GO:0045333, GO:0044320, GO:0043524, GO:0043401, GO:0043303, GO:0042542, GO:0038097, GO:0035726, GO:0032765, GO:0031100, GO:0030534, GO:0030522, GO:0021766, GO:0010828, GO:0010613, GO:0009444, GO:0007411, GO:0007369, GO:0006367, GO:0006357, GO:0001707, GO:0000122, positive regulation of feeding behavior, positive regulation of leukocyte apoptotic process, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of hydrogen peroxide-induced neuron death, positive regulation of monocyte aggregation, energy homeostasis, cellular response to catecholamine stimulus, cellular response to corticotropin-releasing hormone stimulus, cellular response to corticotropin-releasing hormone stimulus, regulation of type B pancreatic cell proliferation, vestibular reflex, neuromuscular process controlling balance, positive regulation of epithelial cell proliferation, semicircular canal morphogenesis, positive regulation of smooth muscle cell proliferation, regulation of smooth muscle cell proliferation, platelet-derived growth factor receptor signaling pathway, positive regulation of fatty acid oxidation, positive regulation of transcription by RNA polymerase II, positive regulation of cell cycle, regulation of megakaryocyte differentiation, fat cell differentiation, cellular respiration, cellular response to leptin stimulus, negative regulation of neuron apoptotic process, steroid hormone mediated signaling pathway, mast cell degranulation, response to hydrogen peroxide, positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway, common myeloid progenitor cell proliferation, positive regulation of mast cell cytokine production, animal organ regeneration, adult behavior, intracellular receptor signaling pathway, hippocampus development, positive regulation of glucose transmembrane transport, positive regulation of cardiac muscle hypertrophy, pyruvate oxidation, axon guidance, gastrulation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, mesoderm formation, negative regulation of transcription by RNA polymerase II, 483 752 1192 4062 4701 5939 4060 3634 4787 ENSG00000119509 chr9 100099256 100301000 + INVS protein_coding This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]. 27130 GO:0097543, GO:0016020, GO:0005929, GO:0005874, GO:0005819, GO:0005737, GO:0005634, ciliary inversin compartment, membrane, cilium, microtubule, spindle, cytoplasm, nucleus, GO:0005516, GO:0005515, calmodulin binding, protein binding, GO:1904108, GO:0090090, GO:0016055, GO:0007275, protein localization to ciliary inversin compartment, negative regulation of canonical Wnt signaling pathway, Wnt signaling pathway, multicellular organism development, 47 43 63 61 55 96 73 34 76 ENSG00000119514 chr9 98807699 98850081 + GALNT12 protein_coding This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]. 79695 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, O-glycan processing, 3 6 34 36 11 33 19 3 33 ENSG00000119522 chr9 123379654 123930152 - DENND1A protein_coding Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]. 57706 GO:0043231, GO:0043231, GO:0043025, GO:0042734, GO:0030665, GO:0030425, GO:0030136, GO:0030136, GO:0005829, GO:0005829, GO:0005829, GO:0005654, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, neuronal cell body, presynaptic membrane, clathrin-coated vesicle membrane, dendrite, clathrin-coated vesicle, clathrin-coated vesicle, cytosol, cytosol, cytosol, nucleoplasm, GO:1901981, GO:1901981, GO:0032266, GO:0017124, GO:0005085, GO:0005085, phosphatidylinositol phosphate binding, phosphatidylinositol phosphate binding, phosphatidylinositol-3-phosphate binding, SH3 domain binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0048488, GO:0043547, GO:0032483, GO:0032456, GO:0032456, GO:0015031, GO:0006897, GO:0006897, synaptic vesicle endocytosis, positive regulation of GTPase activity, regulation of Rab protein signal transduction, endocytic recycling, endocytic recycling, protein transport, endocytosis, endocytosis, 388 470 504 200 333 313 266 350 263 ENSG00000119523 chr9 99216426 99221956 - ALG2 protein_coding This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]. 85365 GO:0048471, GO:0016021, GO:0016020, GO:0016020, GO:0015629, GO:0005829, GO:0005789, GO:0005737, GO:0005634, perinuclear region of cytoplasm, integral component of membrane, membrane, membrane, actin cytoskeleton, cytosol, endoplasmic reticulum membrane, cytoplasm, nucleus, GO:0102704, GO:0048306, GO:0048306, GO:0047485, GO:0046982, GO:0005515, GO:0004378, GO:0000033, GO:0000033, GO:0000033, GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity, calcium-dependent protein binding, calcium-dependent protein binding, protein N-terminus binding, protein heterodimerization activity, protein binding, GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity, alpha-1,3-mannosyltransferase activity, alpha-1,3-mannosyltransferase activity, alpha-1,3-mannosyltransferase activity, GO:0097502, GO:0051592, GO:0033577, GO:0033577, GO:0006490, GO:0006488, GO:0006488, mannosylation, response to calcium ion, protein glycosylation in endoplasmic reticulum, protein glycosylation in endoplasmic reticulum, oligosaccharide-lipid intermediate biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, 43 49 48 48 39 67 42 34 47 ENSG00000119535 chr1 36466043 36483278 - CSF3R protein_coding The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]. 1441 GO:0043235, GO:0009897, GO:0005887, GO:0005886, GO:0005576, receptor complex, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0051916, GO:0038023, GO:0019955, GO:0005515, GO:0004896, granulocyte colony-stimulating factor binding, signaling receptor activity, cytokine binding, protein binding, cytokine receptor activity, GO:0097186, GO:0045637, GO:0030593, GO:0019221, GO:0019221, GO:0007165, GO:0007155, GO:0006952, amelogenesis, regulation of myeloid cell differentiation, neutrophil chemotaxis, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, signal transduction, cell adhesion, defense response, 107903 118528 153084 110275 150310 165947 115415 104655 136707 ENSG00000119537 chr18 63327726 63367510 - KDSR protein_coding The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]. 2531 GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0005783, GO:0005615, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, extracellular space, GO:0047560, GO:0047560, GO:0047560, GO:0047560, GO:0005515, 3-dehydrosphinganine reductase activity, 3-dehydrosphinganine reductase activity, 3-dehydrosphinganine reductase activity, 3-dehydrosphinganine reductase activity, protein binding, GO:0055114, GO:0030148, GO:0030148, GO:0006666, GO:0006666, oxidation-reduction process, sphingolipid biosynthetic process, sphingolipid biosynthetic process, 3-keto-sphinganine metabolic process, 3-keto-sphinganine metabolic process, 26 22 63 77 61 89 39 24 40 ENSG00000119541 chr18 63389190 63422483 - VPS4B protein_coding The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]. 9525 GO:0090543, GO:0070062, GO:0031902, GO:0010008, GO:0005829, GO:0005813, GO:0005768, GO:0005737, GO:0005634, GO:0005634, GO:0000922, Flemming body, extracellular exosome, late endosome membrane, endosome membrane, cytosol, centrosome, endosome, cytoplasm, nucleus, nucleus, spindle pole, GO:0044877, GO:0042803, GO:0042802, GO:0016887, GO:0016887, GO:0016887, GO:0008568, GO:0008022, GO:0005524, GO:0005515, protein-containing complex binding, protein homodimerization activity, identical protein binding, ATPase activity, ATPase activity, ATPase activity, microtubule-severing ATPase activity, protein C-terminus binding, ATP binding, protein binding, GO:1904903, GO:1904903, GO:1903902, GO:1903724, GO:1903543, GO:1903542, GO:1902188, GO:1901673, GO:0090611, GO:0061952, GO:0061738, GO:0060548, GO:0051261, GO:0051013, GO:0050792, GO:0048524, GO:0043162, GO:0039702, GO:0036258, GO:0033993, GO:0032510, GO:0031122, GO:0030301, GO:0019076, GO:0019058, GO:0016236, GO:0016197, GO:0016197, GO:0015031, GO:0010971, GO:0010824, GO:0007080, GO:0006997, GO:0006813, ESCRT III complex disassembly, ESCRT III complex disassembly, positive regulation of viral life cycle, positive regulation of centriole elongation, positive regulation of exosomal secretion, negative regulation of exosomal secretion, positive regulation of viral release from host cell, regulation of mitotic spindle assembly, ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway, midbody abscission, late endosomal microautophagy, negative regulation of cell death, protein depolymerization, microtubule severing, regulation of viral process, positive regulation of viral process, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, viral budding via host ESCRT complex, multivesicular body assembly, response to lipid, endosome to lysosome transport via multivesicular body sorting pathway, cytoplasmic microtubule organization, cholesterol transport, viral release from host cell, viral life cycle, macroautophagy, endosomal transport, endosomal transport, protein transport, positive regulation of G2/M transition of mitotic cell cycle, regulation of centrosome duplication, mitotic metaphase plate congression, nucleus organization, potassium ion transport, 2227 2001 2204 3241 3452 3360 3365 2427 2166 ENSG00000119547 chr18 57435685 57491297 + ONECUT2 protein_coding This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]. 9480 GO:0015629, GO:0005654, GO:0005634, GO:0000785, actin cytoskeleton, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060271, GO:0048935, GO:0045944, GO:0045165, GO:0031018, GO:0030512, GO:0030335, GO:0009887, GO:0006357, GO:0002064, GO:0001952, GO:0001889, cilium assembly, peripheral nervous system neuron development, positive regulation of transcription by RNA polymerase II, cell fate commitment, endocrine pancreas development, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, animal organ morphogenesis, regulation of transcription by RNA polymerase II, epithelial cell development, regulation of cell-matrix adhesion, liver development, 0 0 0 0 0 0 0 0 0 ENSG00000119559 chr19 1461143 1479556 - C19orf25 protein_coding 148223 GO:0005515, protein binding, 285 325 363 139 227 189 182 224 131 ENSG00000119574 chr19 58513530 58538911 - ZBTB45 protein_coding 84878 GO:0005654, nucleoplasm, GO:1990837, GO:0046872, GO:0005515, GO:0001227, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007399, GO:0006357, GO:0000122, nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 34 31 43 30 33 17 19 35 20 ENSG00000119596 chr14 74763366 74859435 + YLPM1 protein_coding 56252 GO:0016607, GO:0005829, GO:0005654, GO:0005634, GO:0005634, nuclear speck, cytosol, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0032204, GO:0008150, regulation of telomere maintenance, biological_process, 437 540 574 423 321 465 409 272 323 ENSG00000119599 chr14 72926332 72959703 + DCAF4 protein_coding This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]. 26094 GO:0080008, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 12 4 10 16 19 36 19 13 18 ENSG00000119608 chr14 74852871 74871940 - PROX2 protein_coding 283571 GO:0005634, GO:0000785, nucleus, chromatin, GO:0003677, GO:0000981, GO:0000981, GO:0000978, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 2 0 3 2 10 5 2 4 ENSG00000119614 chr14 74239472 74262738 + VSX2 protein_coding This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]. 338917 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:1990837, GO:0005515, GO:0001227, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0050896, GO:0007601, GO:0007275, GO:0006357, GO:0000122, response to stimulus, visual perception, multicellular organism development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000119616 chr14 74713144 74738620 + FCF1 protein_coding 51077 GO:0032040, GO:0005730, GO:0005654, small-subunit processome, nucleolus, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006364, rRNA processing, 433 366 568 445 474 643 452 359 396 ENSG00000119630 chr14 74941834 74955784 - PGF protein_coding This gene encodes a growth factor found in placenta which is homologous to vascular endothelial growth factor. Alternatively spliced transcripts encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]. 5228 GO:0016020, GO:0005615, GO:0005576, membrane, extracellular space, extracellular region, GO:0044877, GO:0042802, GO:0042056, GO:0008201, GO:0008083, GO:0008083, GO:0005515, GO:0005172, protein-containing complex binding, identical protein binding, chemoattractant activity, heparin binding, growth factor activity, growth factor activity, protein binding, vascular endothelial growth factor receptor binding, GO:0060754, GO:0060688, GO:0051781, GO:0050930, GO:0050918, GO:0048010, GO:0048010, GO:0045766, GO:0042493, GO:0038084, GO:0032870, GO:0031100, GO:0030154, GO:0008284, GO:0007565, GO:0007267, GO:0007165, GO:0002040, GO:0001938, GO:0001934, GO:0001666, GO:0001658, positive regulation of mast cell chemotaxis, regulation of morphogenesis of a branching structure, positive regulation of cell division, induction of positive chemotaxis, positive chemotaxis, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of angiogenesis, response to drug, vascular endothelial growth factor signaling pathway, cellular response to hormone stimulus, animal organ regeneration, cell differentiation, positive regulation of cell population proliferation, female pregnancy, cell-cell signaling, signal transduction, sprouting angiogenesis, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, response to hypoxia, branching involved in ureteric bud morphogenesis, 0 0 0 0 2 0 0 0 2 ENSG00000119632 chr14 94127779 94130253 - IFI27L2 protein_coding 83982 GO:0031966, GO:0016021, GO:0005739, mitochondrial membrane, integral component of membrane, mitochondrion, GO:0097190, GO:0006915, apoptotic signaling pathway, apoptotic process, 1 0 1 2 6 0 0 0 0 ENSG00000119636 chr14 74019353 74082863 + BBOF1 protein_coding 80127 GO:0036064, GO:0005737, ciliary basal body, cytoplasm, GO:0044458, motile cilium assembly, 3 1 3 19 0 5 5 11 1 ENSG00000119638 chr14 75079353 75127344 - NEK9 protein_coding This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]. 91754 GO:0005829, GO:0005813, GO:0005634, cytosol, centrosome, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0019901, GO:0005524, GO:0005515, protein threonine kinase activity, protein serine kinase activity, metal ion binding, protein kinase binding, ATP binding, protein binding, GO:0051301, GO:0007077, GO:0006468, cell division, mitotic nuclear envelope disassembly, protein phosphorylation, 467 471 602 374 423 449 453 329 408 ENSG00000119640 chr14 75053221 75069483 - ACYP1 protein_coding This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 97 GO:0003998, acylphosphatase activity, GO:0006796, phosphate-containing compound metabolic process, 4 2 12 10 3 8 3 5 11 ENSG00000119650 chr14 75902136 76084585 + IFT43 protein_coding This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 112752 GO:0097542, GO:0034451, GO:0030991, GO:0015630, GO:0005929, GO:0005929, GO:0005929, GO:0005737, ciliary tip, centriolar satellite, intraciliary transport particle A, microtubule cytoskeleton, cilium, cilium, cilium, cytoplasm, GO:0005515, protein binding, GO:0060271, GO:0035735, GO:0035721, cilium assembly, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, 12 12 29 23 30 47 28 10 8 ENSG00000119655 chr14 74476192 74494177 - NPC2 protein_coding This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]. 10577 GO:0070062, GO:0043202, GO:0035578, GO:0005783, GO:0005764, GO:0005615, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, endoplasmic reticulum, lysosome, extracellular space, extracellular region, GO:0120020, GO:0032934, GO:0019899, GO:0015485, GO:0015485, GO:0005515, cholesterol transfer activity, sterol binding, enzyme binding, cholesterol binding, cholesterol binding, protein binding, GO:0120009, GO:0046836, GO:0043312, GO:0042632, GO:0042632, GO:0034383, GO:0033344, GO:0033344, GO:0032367, GO:0032367, GO:0032367, GO:0032367, GO:0032366, GO:0030301, GO:0019747, GO:0015918, GO:0015914, GO:0009615, GO:0008203, intermembrane lipid transfer, glycolipid transport, neutrophil degranulation, cholesterol homeostasis, cholesterol homeostasis, low-density lipoprotein particle clearance, cholesterol efflux, cholesterol efflux, intracellular cholesterol transport, intracellular cholesterol transport, intracellular cholesterol transport, intracellular cholesterol transport, intracellular sterol transport, cholesterol transport, regulation of isoprenoid metabolic process, sterol transport, phospholipid transport, response to virus, cholesterol metabolic process, 691 783 719 474 678 463 490 617 423 ENSG00000119660 chr14 75292131 75292495 - DPPA5P4 processed_pseudogene 1 0 3 6 5 10 3 3 5 ENSG00000119661 chr14 73644875 73703732 + DNAL1 protein_coding This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]. 83544 GO:0036157, GO:0005874, GO:0005737, outer dynein arm, microtubule, cytoplasm, GO:0045504, GO:0045504, GO:0045504, GO:0043014, GO:0043014, GO:0005515, GO:0003774, dynein heavy chain binding, dynein heavy chain binding, dynein heavy chain binding, alpha-tubulin binding, alpha-tubulin binding, protein binding, motor activity, GO:0036158, GO:0036158, outer dynein arm assembly, outer dynein arm assembly, 11 11 8 13 12 22 14 16 11 ENSG00000119669 chr14 77024543 77028699 - IRF2BPL protein_coding This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]. 64207 GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005615, nucleoplasm, nucleus, nucleus, nucleus, extracellular space, GO:0061630, GO:0046872, GO:0005515, GO:0003714, ubiquitin protein ligase activity, metal ion binding, protein binding, transcription corepressor activity, GO:0046543, GO:0045944, GO:0016567, GO:0007399, GO:0006357, GO:0000122, development of secondary female sexual characteristics, positive regulation of transcription by RNA polymerase II, protein ubiquitination, nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1091 1044 1077 505 652 425 619 757 586 ENSG00000119673 chr14 73567620 73575658 + ACOT2 protein_coding This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 10965 GO:0005829, GO:0005782, GO:0005759, GO:0005739, cytosol, peroxisomal matrix, mitochondrial matrix, mitochondrion, GO:0102991, GO:0052689, GO:0047617, GO:0047617, GO:0016290, GO:0005515, myristoyl-CoA hydrolase activity, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, acyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, protein binding, GO:0006637, GO:0006637, GO:0006637, GO:0006631, GO:0006625, GO:0001676, GO:0000038, acyl-CoA metabolic process, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, protein targeting to peroxisome, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 5 8 17 39 6 24 15 6 25 ENSG00000119681 chr14 74498170 74612378 - LTBP2 protein_coding The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]. 4053 GO:0070062, GO:0062023, GO:0062023, GO:0031012, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular space, extracellular region, GO:0050436, GO:0019838, GO:0008201, GO:0005515, GO:0005509, GO:0005201, microfibril binding, growth factor binding, heparin binding, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0097435, GO:0097435, GO:0009306, GO:0007179, GO:0006605, supramolecular fiber organization, supramolecular fiber organization, protein secretion, transforming growth factor beta receptor signaling pathway, protein targeting, 60 56 69 53 75 40 54 41 44 ENSG00000119682 chr14 74653437 74713115 - AREL1 protein_coding 9870 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0061630, GO:0005515, GO:0004842, ubiquitin protein ligase activity, protein binding, ubiquitin-protein transferase activity, GO:0050727, GO:0045732, GO:0043161, GO:0043066, GO:0043066, GO:0016567, GO:0016567, GO:0006915, GO:0006511, GO:0000209, regulation of inflammatory response, positive regulation of protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, negative regulation of apoptotic process, protein ubiquitination, protein ubiquitination, apoptotic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 2433 2099 3723 1327 1741 1813 1448 1191 1547 ENSG00000119684 chr14 75013764 75051532 - MLH3 protein_coding This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]. 27030 GO:0032300, GO:0005712, GO:0005654, GO:0005634, GO:0001673, GO:0000795, mismatch repair complex, chiasma, nucleoplasm, nucleus, male germ cell nucleus, synaptonemal complex, GO:0030983, GO:0019237, GO:0016887, GO:0005524, GO:0005515, GO:0003696, GO:0003682, mismatched DNA binding, centromeric DNA binding, ATPase activity, ATP binding, protein binding, satellite DNA binding, chromatin binding, GO:0008104, GO:0007144, GO:0007140, GO:0007131, GO:0007130, GO:0006298, GO:0006298, protein localization, female meiosis I, male meiotic nuclear division, reciprocal meiotic recombination, synaptonemal complex assembly, mismatch repair, mismatch repair, 19 17 29 64 18 33 40 13 43 ENSG00000119685 chr14 75633625 75955078 + TTLL5 protein_coding This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]. 23093 GO:0005929, GO:0005886, GO:0005874, GO:0005829, GO:0005829, GO:0005813, GO:0005634, cilium, plasma membrane, microtubule, cytosol, cytosol, centrosome, nucleus, GO:0070740, GO:0015631, GO:0005524, tubulin-glutamic acid ligase activity, tubulin binding, ATP binding, GO:0060041, GO:0018095, GO:0018095, GO:0000226, retina development in camera-type eye, protein polyglutamylation, protein polyglutamylation, microtubule cytoskeleton organization, 102 105 98 121 121 117 156 86 94 ENSG00000119686 chr14 75578617 75663214 + FLVCR2 protein_coding This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]. 55640 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0020037, GO:0020037, GO:0015232, GO:0015232, heme binding, heme binding, heme transmembrane transporter activity, heme transmembrane transporter activity, GO:0097037, GO:0055085, heme export, transmembrane transport, 2 4 8 3 10 6 18 4 4 ENSG00000119688 chr14 74285423 74303056 - ABCD4 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]. 5826 GO:0043190, GO:0016021, GO:0005789, GO:0005778, GO:0005777, GO:0005777, GO:0005765, GO:0005765, ATP-binding cassette (ABC) transporter complex, integral component of membrane, endoplasmic reticulum membrane, peroxisomal membrane, peroxisome, peroxisome, lysosomal membrane, lysosomal membrane, GO:0042626, GO:0042626, GO:0042626, GO:0016887, GO:0005524, GO:0005524, GO:0005515, GO:0005324, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, ATP binding, protein binding, long-chain fatty acid transporter activity, GO:1990830, GO:0055085, GO:0042760, GO:0015910, GO:0009235, GO:0009235, GO:0007031, GO:0006635, cellular response to leukemia inhibitory factor, transmembrane transport, very long-chain fatty acid catabolic process, long-chain fatty acid import into peroxisome, cobalamin metabolic process, cobalamin metabolic process, peroxisome organization, fatty acid beta-oxidation, 86 64 110 146 138 154 123 118 132 ENSG00000119689 chr14 74881891 74903745 + DLST protein_coding This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]. 1743 GO:0045252, GO:0016020, GO:0005759, GO:0005739, GO:0005634, GO:0005634, oxoglutarate dehydrogenase complex, membrane, mitochondrial matrix, mitochondrion, nucleus, nucleus, GO:0016746, GO:0005515, GO:0004149, GO:0004149, transferase activity, transferring acyl groups, protein binding, dihydrolipoyllysine-residue succinyltransferase activity, dihydrolipoyllysine-residue succinyltransferase activity, GO:0106077, GO:0033512, GO:0006554, GO:0006104, GO:0006103, GO:0006099, GO:0006099, GO:0006099, GO:0006091, histone succinylation, L-lysine catabolic process to acetyl-CoA via saccharopine, lysine catabolic process, succinyl-CoA metabolic process, 2-oxoglutarate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, generation of precursor metabolites and energy, 525 560 788 596 572 665 547 391 506 ENSG00000119698 chr14 94146128 94279735 + PPP4R4 protein_coding The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]. 57718 GO:0008287, GO:0008287, GO:0005829, GO:0005829, GO:0005737, protein serine/threonine phosphatase complex, protein serine/threonine phosphatase complex, cytosol, cytosol, cytoplasm, GO:0019888, GO:0019888, GO:0005515, protein phosphatase regulator activity, protein phosphatase regulator activity, protein binding, GO:0080163, GO:0080163, GO:0032515, GO:0032515, GO:0001835, regulation of protein serine/threonine phosphatase activity, regulation of protein serine/threonine phosphatase activity, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphoprotein phosphatase activity, blastocyst hatching, 0 9 2 0 6 5 0 10 0 ENSG00000119699 chr14 75958099 75982991 - TGFB3 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]. 7043 GO:0062023, GO:0043231, GO:0043025, GO:0031093, GO:0030315, GO:0009986, GO:0005886, GO:0005634, GO:0005615, GO:0005576, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, neuronal cell body, platelet alpha granule lumen, T-tubule, cell surface, plasma membrane, nucleus, extracellular space, extracellular region, GO:0050431, GO:0044877, GO:0042802, GO:0042802, GO:0034714, GO:0034714, GO:0034713, GO:0008083, GO:0005515, GO:0005125, GO:0005114, GO:0005114, GO:0005114, GO:0005114, transforming growth factor beta binding, protein-containing complex binding, identical protein binding, identical protein binding, type III transforming growth factor beta receptor binding, type III transforming growth factor beta receptor binding, type I transforming growth factor beta receptor binding, growth factor activity, protein binding, cytokine activity, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, type II transforming growth factor beta receptor binding, GO:1905075, GO:1905005, GO:1904706, GO:0070483, GO:0062009, GO:0060395, GO:0060391, GO:0060364, GO:0060325, GO:0051781, GO:0051496, GO:0051491, GO:0050714, GO:0048839, GO:0048702, GO:0048565, GO:0048286, GO:0045944, GO:0045893, GO:0045893, GO:0045216, GO:0043932, GO:0043627, GO:0043524, GO:0043065, GO:0042704, GO:0042476, GO:0042127, GO:0042060, GO:0034616, GO:0032967, GO:0032570, GO:0030879, GO:0030512, GO:0030509, GO:0030501, GO:0010936, GO:0010862, GO:0010862, GO:0010718, GO:0010718, GO:0008285, GO:0008285, GO:0008284, GO:0007568, GO:0007565, GO:0007435, GO:0007179, GO:0007179, GO:0002576, GO:0001701, GO:0001666, GO:0000187, positive regulation of tight junction disassembly, regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, negative regulation of vascular associated smooth muscle cell proliferation, detection of hypoxia, secondary palate development, SMAD protein signal transduction, positive regulation of SMAD protein signal transduction, frontal suture morphogenesis, face morphogenesis, positive regulation of cell division, positive regulation of stress fiber assembly, positive regulation of filopodium assembly, positive regulation of protein secretion, inner ear development, embryonic neurocranium morphogenesis, digestive tract development, lung alveolus development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, cell-cell junction organization, ossification involved in bone remodeling, response to estrogen, negative regulation of neuron apoptotic process, positive regulation of apoptotic process, uterine wall breakdown, odontogenesis, regulation of cell population proliferation, wound healing, response to laminar fluid shear stress, positive regulation of collagen biosynthetic process, response to progesterone, mammary gland development, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, negative regulation of macrophage cytokine production, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial to mesenchymal transition, negative regulation of cell population proliferation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, aging, female pregnancy, salivary gland morphogenesis, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, platelet degranulation, in utero embryonic development, response to hypoxia, activation of MAPK activity, 3 2 10 15 2 27 4 1 7 ENSG00000119703 chr14 75064170 75079987 + ZC2HC1C protein_coding 79696 GO:0046872, GO:0005515, metal ion binding, protein binding, 2 9 5 5 10 1 1 2 3 ENSG00000119705 chr14 77708071 77761104 + SLIRP protein_coding Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008]. 81892 GO:1990904, GO:0048471, GO:0036126, GO:0005739, GO:0005739, GO:0005739, GO:0005634, GO:0001669, ribonucleoprotein complex, perinuclear region of cytoplasm, sperm flagellum, mitochondrion, mitochondrion, mitochondrion, nucleus, acrosomal vesicle, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0070584, GO:0030317, GO:0007338, GO:0007286, GO:0000961, mitochondrion morphogenesis, flagellated sperm motility, single fertilization, spermatid development, negative regulation of mitochondrial RNA catabolic process, 146 148 205 114 126 110 81 107 102 ENSG00000119707 chr14 73058436 73123898 + RBM25 protein_coding 58517 GO:0016607, GO:0005737, nuclear speck, cytoplasm, GO:0005515, GO:0003729, GO:0003729, GO:0003723, protein binding, mRNA binding, mRNA binding, RNA binding, GO:0042981, GO:0008380, GO:0006397, GO:0000381, GO:0000381, regulation of apoptotic process, RNA splicing, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 4577 5469 5227 6014 8681 6994 6895 5941 5362 ENSG00000119711 chr14 74056850 74084493 - ALDH6A1 protein_coding This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 4329 GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, nucleoplasm, GO:0018478, GO:0018478, GO:0004491, GO:0004491, GO:0004491, GO:0004491, GO:0003723, GO:0000062, malonate-semialdehyde dehydrogenase (acetylating) activity, malonate-semialdehyde dehydrogenase (acetylating) activity, methylmalonate-semialdehyde dehydrogenase (acylating) activity, methylmalonate-semialdehyde dehydrogenase (acylating) activity, methylmalonate-semialdehyde dehydrogenase (acylating) activity, methylmalonate-semialdehyde dehydrogenase (acylating) activity, RNA binding, fatty-acyl-CoA binding, GO:0055114, GO:0050873, GO:0019859, GO:0009083, GO:0006574, GO:0006574, GO:0006573, GO:0006210, GO:0006210, oxidation-reduction process, brown fat cell differentiation, thymine metabolic process, branched-chain amino acid catabolic process, valine catabolic process, valine catabolic process, valine metabolic process, thymine catabolic process, thymine catabolic process, 13 12 29 31 8 20 21 8 12 ENSG00000119714 chr14 91232532 91253925 - GPR68 protein_coding The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017]. 8111 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:2001206, GO:0071467, GO:0045656, GO:0035774, GO:0007186, GO:0006954, positive regulation of osteoclast development, cellular response to pH, negative regulation of monocyte differentiation, positive regulation of insulin secretion involved in cellular response to glucose stimulus, G protein-coupled receptor signaling pathway, inflammatory response, 126 147 210 327 362 438 429 238 312 ENSG00000119715 chr14 76310712 76501837 + ESRRB protein_coding This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]. 2103 GO:0032039, GO:0005737, GO:0005654, GO:0005634, GO:0000793, GO:0000785, GO:0000785, integrator complex, cytoplasm, nucleoplasm, nucleus, condensed chromosome, chromatin, chromatin, GO:1990837, GO:0043565, GO:0008270, GO:0008134, GO:0005496, GO:0004879, GO:0003707, GO:0003700, GO:0001228, GO:0000993, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, zinc ion binding, transcription factor binding, steroid binding, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II complex binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000737, GO:2000035, GO:1902459, GO:0090282, GO:0071931, GO:0048839, GO:0045944, GO:0045893, GO:0045821, GO:0045725, GO:0045494, GO:0043697, GO:0043401, GO:0030522, GO:0019827, GO:0017145, GO:0006367, GO:0006357, GO:0006355, GO:0001892, negative regulation of stem cell differentiation, regulation of stem cell division, positive regulation of stem cell population maintenance, positive regulation of transcription involved in G2/M transition of mitotic cell cycle, positive regulation of transcription involved in G1/S transition of mitotic cell cycle, inner ear development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of glycolytic process, positive regulation of glycogen biosynthetic process, photoreceptor cell maintenance, cell dedifferentiation, steroid hormone mediated signaling pathway, intracellular receptor signaling pathway, stem cell population maintenance, stem cell division, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, embryonic placenta development, 0 0 0 0 0 0 0 0 0 ENSG00000119718 chr14 75002911 75012366 + EIF2B2 protein_coding This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]. 8892 GO:0005851, GO:0005851, GO:0005829, GO:0005737, eukaryotic translation initiation factor 2B complex, eukaryotic translation initiation factor 2B complex, cytosol, cytoplasm, GO:0005525, GO:0005524, GO:0005515, GO:0005085, GO:0005085, GO:0005085, GO:0003743, GTP binding, ATP binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, translation initiation factor activity, GO:0050852, GO:0043434, GO:0042552, GO:0014003, GO:0009749, GO:0009408, GO:0009408, GO:0007417, GO:0006446, GO:0006446, GO:0006413, GO:0006413, GO:0001541, T cell receptor signaling pathway, response to peptide hormone, myelination, oligodendrocyte development, response to glucose, response to heat, response to heat, central nervous system development, regulation of translational initiation, regulation of translational initiation, translational initiation, translational initiation, ovarian follicle development, 13 23 10 60 16 24 56 19 32 ENSG00000119720 chr14 90267856 90332137 - NRDE2 protein_coding 55051 GO:0016607, GO:0005730, GO:0005654, nuclear speck, nucleolus, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1902369, GO:0046833, GO:0031048, GO:0016246, negative regulation of RNA catabolic process, positive regulation of RNA export from nucleus, heterochromatin assembly by small RNA, RNA interference, 571 601 702 428 775 606 528 486 557 ENSG00000119723 chr14 73949926 73963670 + COQ6 protein_coding The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]. 51004 GO:0042995, GO:0031314, GO:0005794, GO:0005739, GO:0005739, cell projection, extrinsic component of mitochondrial inner membrane, Golgi apparatus, mitochondrion, mitochondrion, GO:0071949, GO:0016712, GO:0016709, GO:0016491, GO:0005515, FAD binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, protein binding, GO:0055114, GO:0006744, GO:0006744, oxidation-reduction process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, 23 28 25 55 40 74 38 30 22 ENSG00000119725 chr14 73886617 73932511 + ZNF410 protein_coding 57862 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0003712, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, transcription coregulator activity, GO:0006357, regulation of transcription by RNA polymerase II, 3 6 6 29 22 35 34 18 5 ENSG00000119729 chr2 46541806 46583121 + RHOQ protein_coding This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]. 23433 GO:0070062, GO:0045121, GO:0030660, GO:0005886, GO:0005886, GO:0005884, GO:0005829, extracellular exosome, membrane raft, Golgi-associated vesicle membrane, plasma membrane, plasma membrane, actin filament, cytosol, GO:0032427, GO:0005525, GO:0005522, GO:0005515, GO:0003924, GO:0003924, GBD domain binding, GTP binding, profilin binding, protein binding, GTPase activity, GTPase activity, GO:1903077, GO:0051491, GO:0051056, GO:0046326, GO:0046039, GO:0045944, GO:0032956, GO:0032869, GO:0030866, GO:0030866, GO:0030031, GO:0016477, GO:0008360, GO:0008286, GO:0007264, GO:0006897, negative regulation of protein localization to plasma membrane, positive regulation of filopodium assembly, regulation of small GTPase mediated signal transduction, positive regulation of glucose import, GTP metabolic process, positive regulation of transcription by RNA polymerase II, regulation of actin cytoskeleton organization, cellular response to insulin stimulus, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, cell projection assembly, cell migration, regulation of cell shape, insulin receptor signaling pathway, small GTPase mediated signal transduction, endocytosis, 1726 1703 2505 846 1644 1251 1025 1171 1096 ENSG00000119737 chr2 53852913 53859989 - GPR75 protein_coding GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002]. 10936 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0016493, GO:0016493, GO:0004930, GO:0004930, C-C chemokine receptor activity, C-C chemokine receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:1901214, GO:0070098, GO:0007186, GO:0007186, regulation of neuron death, chemokine-mediated signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 16 8 21 26 15 20 28 19 22 ENSG00000119760 chr2 27650812 27663840 - SUPT7L protein_coding SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]. 9913 GO:0030914, GO:0030914, GO:0005654, GO:0005634, GO:0005634, STAGA complex, STAGA complex, nucleoplasm, nucleus, nucleus, GO:0046982, GO:0005515, GO:0003713, GO:0003713, protein heterodimerization activity, protein binding, transcription coactivator activity, transcription coactivator activity, GO:1903508, GO:0051457, GO:0043966, GO:0043966, positive regulation of nucleic acid-templated transcription, maintenance of protein location in nucleus, histone H3 acetylation, histone H3 acetylation, 87 123 200 201 133 204 180 82 173 ENSG00000119771 chr2 23385217 23708611 + KLHL29 protein_coding 114818 GO:0005515, protein binding, 3 5 6 12 8 9 8 2 7 ENSG00000119772 chr2 25227855 25342590 - DNMT3A protein_coding CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]. 1788 GO:0016363, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001741, GO:0000792, GO:0000791, GO:0000775, nuclear matrix, cytoplasm, nucleoplasm, nucleoplasm, nucleus, XY body, heterochromatin, euchromatin, chromosome, centromeric region, GO:0046872, GO:0042802, GO:0009008, GO:0008134, GO:0005515, GO:0003886, GO:0003714, GO:0003682, GO:0003677, GO:0000978, metal ion binding, identical protein binding, DNA-methyltransferase activity, transcription factor binding, protein binding, DNA (cytosine-5-)-methyltransferase activity, transcription corepressor activity, chromatin binding, DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097284, GO:0090116, GO:0071456, GO:0071361, GO:0071230, GO:0045814, GO:0043046, GO:0043045, GO:0042493, GO:0042220, GO:0033189, GO:0032355, GO:0030182, GO:0010942, GO:0010288, GO:0010212, GO:0009636, GO:0007568, GO:0007283, GO:0006349, GO:0006346, GO:0006306, GO:0006306, GO:0000278, GO:0000122, GO:0000122, hepatocyte apoptotic process, C-5 methylation of cytosine, cellular response to hypoxia, cellular response to ethanol, cellular response to amino acid stimulus, negative regulation of gene expression, epigenetic, DNA methylation involved in gamete generation, DNA methylation involved in embryo development, response to drug, response to cocaine, response to vitamin A, response to estradiol, neuron differentiation, positive regulation of cell death, response to lead ion, response to ionizing radiation, response to toxic substance, aging, spermatogenesis, regulation of gene expression by genetic imprinting, DNA methylation-dependent heterochromatin assembly, DNA methylation, DNA methylation, mitotic cell cycle, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 648 652 793 518 753 1021 711 575 790 ENSG00000119777 chr2 27032910 27041695 + TMEM214 protein_coding 54867 GO:0016021, GO:0005881, GO:0005829, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, cytoplasmic microtubule, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0006915, apoptotic process, 70 115 124 104 138 155 114 118 113 ENSG00000119778 chr2 23748664 23927114 - ATAD2B protein_coding The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 54454 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0070577, GO:0042393, GO:0016887, GO:0005524, GO:0003682, lysine-acetylated histone binding, histone binding, ATPase activity, ATP binding, chromatin binding, GO:0045944, GO:0031936, positive regulation of transcription by RNA polymerase II, negative regulation of chromatin silencing, 498 479 609 350 415 477 431 380 356 ENSG00000119782 chr2 24049701 24063681 + FKBP1B protein_coding The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]. 2281 GO:0034704, GO:0033017, GO:0033017, GO:0030018, GO:0016020, GO:0005829, GO:0005737, GO:0005737, calcium channel complex, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, Z disc, membrane, cytosol, cytoplasm, cytoplasm, GO:0044325, GO:0030551, GO:0019855, GO:0005528, GO:0005515, GO:0005219, GO:0005102, GO:0003755, GO:0003755, ion channel binding, cyclic nucleotide binding, calcium channel inhibitor activity, FK506 binding, protein binding, ryanodine-sensitive calcium-release channel activity, signaling receptor binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:1903779, GO:0086064, GO:0061077, GO:0060315, GO:0060314, GO:0060314, GO:0060314, GO:0051775, GO:0051480, GO:0051480, GO:0051284, GO:0051280, GO:0048680, GO:0042542, GO:0042026, GO:0035584, GO:0034220, GO:0033197, GO:0032515, GO:0022417, GO:0010881, GO:0010881, GO:0010880, GO:0010459, GO:0007204, GO:0006458, GO:0000413, GO:0000413, regulation of cardiac conduction, cell communication by electrical coupling involved in cardiac conduction, chaperone-mediated protein folding, negative regulation of ryanodine-sensitive calcium-release channel activity, regulation of ryanodine-sensitive calcium-release channel activity, regulation of ryanodine-sensitive calcium-release channel activity, regulation of ryanodine-sensitive calcium-release channel activity, response to redox state, regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, positive regulation of sequestering of calcium ion, negative regulation of release of sequestered calcium ion into cytosol, positive regulation of axon regeneration, response to hydrogen peroxide, protein refolding, calcium-mediated signaling using intracellular calcium source, ion transmembrane transport, response to vitamin E, negative regulation of phosphoprotein phosphatase activity, protein maturation by protein folding, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, negative regulation of heart rate, positive regulation of cytosolic calcium ion concentration, 'de novo' protein folding, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, 0 1 0 0 0 0 0 0 0 ENSG00000119787 chr2 38294880 38377285 - ATL2 protein_coding 64225 GO:0098826, GO:0016021, GO:0016020, GO:0005789, GO:0005783, endoplasmic reticulum tubular network membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042802, GO:0005525, GO:0005515, GO:0003924, GO:0003924, identical protein binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1990809, GO:0051260, GO:0051260, GO:0007030, GO:0007029, GO:0007029, GO:0006888, endoplasmic reticulum tubular network membrane organization, protein homooligomerization, protein homooligomerization, Golgi organization, endoplasmic reticulum organization, endoplasmic reticulum organization, endoplasmic reticulum to Golgi vesicle-mediated transport, 388 373 538 302 390 317 297 280 258 ENSG00000119801 chr2 30146941 30160533 + YPEL5 protein_coding 51646 GO:1904813, GO:1904724, GO:0097431, GO:0030496, GO:0005813, GO:0005634, GO:0005576, GO:0000151, GO:0000151, ficolin-1-rich granule lumen, tertiary granule lumen, mitotic spindle pole, midbody, centrosome, nucleus, extracellular region, ubiquitin ligase complex, ubiquitin ligase complex, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0043312, GO:0008283, neutrophil degranulation, cell population proliferation, 7864 9019 11639 8726 13399 13612 8580 9888 10644 ENSG00000119812 chr2 33583658 33599382 - FAM98A protein_coding 25940 GO:0072669, tRNA-splicing ligase complex, GO:0008276, GO:0005515, GO:0003723, protein methyltransferase activity, protein binding, RNA binding, GO:1900029, GO:0032418, GO:0010628, GO:0008284, GO:0006479, positive regulation of ruffle assembly, lysosome localization, positive regulation of gene expression, positive regulation of cell population proliferation, protein methylation, 18 21 51 39 14 41 35 13 25 ENSG00000119820 chr2 32277910 32316594 + YIPF4 protein_coding 84272 GO:0043231, GO:0016021, GO:0005886, GO:0005794, GO:0005783, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, GO:0005515, protein binding, GO:0016032, viral process, 720 690 739 423 776 565 541 621 543 ENSG00000119844 chr2 64524305 64593005 + AFTPH protein_coding 54812 GO:0043231, GO:0032588, GO:0030121, GO:0030121, GO:0005829, GO:0005794, GO:0005654, intracellular membrane-bounded organelle, trans-Golgi network membrane, AP-1 adaptor complex, AP-1 adaptor complex, cytosol, Golgi apparatus, nucleoplasm, GO:0030276, GO:0030276, clathrin binding, clathrin binding, GO:0046907, GO:0015031, intracellular transport, protein transport, 2071 1584 2882 639 910 813 779 795 699 ENSG00000119862 chr2 64453969 64461381 + LGALSL protein_coding 29094 GO:0030246, GO:0005515, carbohydrate binding, protein binding, 305 311 193 329 425 282 328 275 228 ENSG00000119865 chr2 68284171 68320051 - CNRIP1 protein_coding This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]. 25927 GO:0005886, GO:0005886, GO:0005737, plasma membrane, plasma membrane, cytoplasm, GO:0031718, GO:0031718, GO:0008022, GO:0005515, type 1 cannabinoid receptor binding, type 1 cannabinoid receptor binding, protein C-terminus binding, protein binding, GO:2000272, negative regulation of signaling receptor activity, 2 0 0 4 10 0 1 1 0 ENSG00000119866 chr2 60450520 60555154 - BCL11A protein_coding This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 53335 GO:0014069, GO:0005737, GO:0005654, GO:0005634, postsynaptic density, cytoplasm, nucleoplasm, nucleus, GO:0046872, GO:0019901, GO:0003700, GO:0001227, GO:0000978, GO:0000978, metal ion binding, protein kinase binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000173, GO:2000171, GO:1905232, GO:1904800, GO:1903860, GO:0016925, GO:0010628, GO:0006357, GO:0000122, negative regulation of branching morphogenesis of a nerve, negative regulation of dendrite development, cellular response to L-glutamate, negative regulation of neuron remodeling, negative regulation of dendrite extension, protein sumoylation, positive regulation of gene expression, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 83 97 111 51 105 62 62 68 74 ENSG00000119878 chr2 46616416 46625742 + CRIPT protein_coding This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]. 9419 GO:0043198, GO:0043197, GO:0043025, GO:0030425, GO:0030425, GO:0014069, GO:0005737, dendritic shaft, dendritic spine, neuronal cell body, dendrite, dendrite, postsynaptic density, cytoplasm, GO:0097110, GO:0044877, GO:0030165, GO:0030165, GO:0008017, GO:0008017, GO:0005515, scaffold protein binding, protein-containing complex binding, PDZ domain binding, PDZ domain binding, microtubule binding, microtubule binding, protein binding, GO:1902897, GO:0045184, GO:0035372, GO:0031122, GO:0031122, regulation of postsynaptic density protein 95 clustering, establishment of protein localization, protein localization to microtubule, cytoplasmic microtubule organization, cytoplasmic microtubule organization, 202 173 175 88 145 126 89 183 105 ENSG00000119888 chr2 47345158 47387601 + EPCAM protein_coding This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]. 4072 GO:0070062, GO:0016328, GO:0016324, GO:0016323, GO:0016021, GO:0009986, GO:0005923, GO:0005923, GO:0005886, GO:0005886, extracellular exosome, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, cell surface, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, GO:0098641, GO:0044877, GO:0005515, cadherin binding involved in cell-cell adhesion, protein-containing complex binding, protein binding, GO:2000648, GO:2000147, GO:2000048, GO:0098742, GO:0050900, GO:0048863, GO:0045944, GO:0043066, GO:0023019, GO:0008284, GO:0001657, positive regulation of stem cell proliferation, positive regulation of cell motility, negative regulation of cell-cell adhesion mediated by cadherin, cell-cell adhesion via plasma-membrane adhesion molecules, leukocyte migration, stem cell differentiation, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, signal transduction involved in regulation of gene expression, positive regulation of cell population proliferation, ureteric bud development, 0 2 0 0 0 1 0 2 0 ENSG00000119899 chr6 73593379 73654155 - SLC17A5 protein_coding This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]. 26503 GO:0030672, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005829, GO:0005765, GO:0005765, GO:0005765, GO:0005764, synaptic vesicle membrane, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, cytosol, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, GO:0022857, GO:0015538, GO:0015136, GO:0015136, GO:0005351, transmembrane transporter activity, sialic acid:proton symporter activity, sialic acid transmembrane transporter activity, sialic acid transmembrane transporter activity, carbohydrate:proton symporter activity, GO:1902600, GO:0034219, GO:0015739, GO:0015739, GO:0009617, GO:0006865, GO:0006820, GO:0006811, proton transmembrane transport, carbohydrate transmembrane transport, sialic acid transport, sialic acid transport, response to bacterium, amino acid transport, anion transport, ion transport, 173 149 265 65 103 104 65 79 78 ENSG00000119900 chr6 71288803 71308950 + OGFRL1 protein_coding 79627 GO:0016020, membrane, GO:0004985, opioid receptor activity, GO:0038003, opioid receptor signaling pathway, 11767 13176 15398 1841 6691 3633 2849 6096 3570 ENSG00000119906 chr10 100912569 100965136 + SLF2 protein_coding 55719 GO:0043231, GO:0035861, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, site of double-strand break, nucleoplasm, nucleus, chromatin, GO:0044877, GO:0031625, GO:0005515, protein-containing complex binding, ubiquitin protein ligase binding, protein binding, GO:2000781, GO:1990166, GO:0034184, GO:0031334, GO:0006974, GO:0006281, positive regulation of double-strand break repair, protein localization to site of double-strand break, positive regulation of maintenance of mitotic sister chromatid cohesion, positive regulation of protein-containing complex assembly, cellular response to DNA damage stimulus, DNA repair, 159 182 218 182 186 271 132 131 185 ENSG00000119912 chr10 92451684 92574076 - IDE protein_coding This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]. 3416 GO:0070062, GO:0031597, GO:0016323, GO:0009986, GO:0009986, GO:0009897, GO:0005829, GO:0005829, GO:0005782, GO:0005782, GO:0005777, GO:0005777, GO:0005739, GO:0005739, GO:0005737, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005615, extracellular exosome, cytosolic proteasome complex, basolateral plasma membrane, cell surface, cell surface, external side of plasma membrane, cytosol, cytosol, peroxisomal matrix, peroxisomal matrix, peroxisome, peroxisome, mitochondrion, mitochondrion, cytoplasm, nucleus, nucleus, extracellular space, extracellular space, extracellular space, GO:0140036, GO:0044877, GO:0043559, GO:0043559, GO:0042803, GO:0042277, GO:0031626, GO:0016887, GO:0008270, GO:0005524, GO:0005515, GO:0004222, GO:0004222, GO:0004175, GO:0001618, GO:0001540, ubiquitin-dependent protein binding, protein-containing complex binding, insulin binding, insulin binding, protein homodimerization activity, peptide binding, beta-endorphin binding, ATPase activity, zinc ion binding, ATP binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, virus receptor activity, amyloid-beta binding, GO:1903715, GO:1901143, GO:1901142, GO:0150094, GO:0150094, GO:0097242, GO:0097242, GO:0051603, GO:0051603, GO:0050435, GO:0050435, GO:0046718, GO:0045861, GO:0045732, GO:0044257, GO:0043171, GO:0043171, GO:0042447, GO:0042447, GO:0032092, GO:0030163, GO:0019885, GO:0010992, GO:0010815, GO:0008340, GO:0008286, GO:0006625, GO:0006508, regulation of aerobic respiration, insulin catabolic process, insulin metabolic process, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance, amyloid-beta clearance, proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, amyloid-beta metabolic process, amyloid-beta metabolic process, viral entry into host cell, negative regulation of proteolysis, positive regulation of protein catabolic process, cellular protein catabolic process, peptide catabolic process, peptide catabolic process, hormone catabolic process, hormone catabolic process, positive regulation of protein binding, protein catabolic process, antigen processing and presentation of endogenous peptide antigen via MHC class I, ubiquitin recycling, bradykinin catabolic process, determination of adult lifespan, insulin receptor signaling pathway, protein targeting to peroxisome, proteolysis, 27 20 57 78 52 96 70 22 34 ENSG00000119913 chr10 112283400 112305035 + TECTB protein_coding This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013]. 6975 GO:0031225, GO:0031012, GO:0009986, GO:0005886, GO:0005615, GO:0005576, anchored component of membrane, extracellular matrix, cell surface, plasma membrane, extracellular space, extracellular region, GO:0005201, extracellular matrix structural constituent, 0 0 0 0 0 0 0 0 0 ENSG00000119915 chr10 102226328 102229589 + ELOVL3 protein_coding This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]. 83401 GO:0030176, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102756, GO:0102338, GO:0102337, GO:0102336, GO:0009922, GO:0005515, very-long-chain 3-ketoacyl-CoA synthase activity, 3-oxo-lignoceronyl-CoA synthase activity, 3-oxo-cerotoyl-CoA synthase activity, 3-oxo-arachidoyl-CoA synthase activity, fatty acid elongase activity, protein binding, GO:0120162, GO:0043651, GO:0042761, GO:0042761, GO:0036109, GO:0035338, GO:0034626, GO:0034626, GO:0034625, GO:0034625, GO:0030148, GO:0019367, GO:0019367, GO:0006636, positive regulation of cold-induced thermogenesis, linoleic acid metabolic process, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, alpha-linolenic acid metabolic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, sphingolipid biosynthetic process, fatty acid elongation, saturated fatty acid, fatty acid elongation, saturated fatty acid, unsaturated fatty acid biosynthetic process, 0 2 1 0 2 1 0 0 1 ENSG00000119917 chr10 89327894 89340971 + IFIT3 protein_coding 3437 GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, GO:0042802, GO:0005515, GO:0003723, GO:0003674, identical protein binding, protein binding, RNA binding, molecular_function, GO:0060337, GO:0051607, GO:0043066, GO:0035457, GO:0009615, GO:0008285, type I interferon signaling pathway, defense response to virus, negative regulation of apoptotic process, cellular response to interferon-alpha, response to virus, negative regulation of cell population proliferation, 2629 2758 3379 1500 2234 2812 2155 2465 2630 ENSG00000119919 chr10 99532933 99536524 + NKX2-3 protein_coding This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]. 159296 GO:0005634, GO:0005575, GO:0000785, nucleus, cellular_component, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050900, GO:0048621, GO:0048541, GO:0048536, GO:0048535, GO:0045944, GO:0043367, GO:0042475, GO:0042127, GO:0030225, GO:0030154, GO:0022612, GO:0008150, GO:0006641, GO:0006357, GO:0002317, GO:0001776, leukocyte migration, post-embryonic digestive tract morphogenesis, Peyer's patch development, spleen development, lymph node development, positive regulation of transcription by RNA polymerase II, CD4-positive, alpha-beta T cell differentiation, odontogenesis of dentin-containing tooth, regulation of cell population proliferation, macrophage differentiation, cell differentiation, gland morphogenesis, biological_process, triglyceride metabolic process, regulation of transcription by RNA polymerase II, plasma cell differentiation, leukocyte homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000119922 chr10 89283694 89309276 + IFIT2 protein_coding 3433 GO:0005829, GO:0005829, GO:0005783, GO:0005737, cytosol, cytosol, endoplasmic reticulum, cytoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0060337, GO:0051607, GO:0043065, GO:0035457, GO:0032091, GO:0009615, GO:0009615, GO:0008637, type I interferon signaling pathway, defense response to virus, positive regulation of apoptotic process, cellular response to interferon-alpha, negative regulation of protein binding, response to virus, response to virus, apoptotic mitochondrial changes, 5215 4457 5419 3056 7085 7705 4279 6451 6295 ENSG00000119927 chr10 112149864 112215377 - GPAM protein_coding This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]. 57678 GO:0031966, GO:0016021, GO:0005886, GO:0005741, mitochondrial membrane, integral component of membrane, plasma membrane, mitochondrial outer membrane, GO:0102420, GO:0005515, GO:0004366, GO:0004366, GO:0004366, sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity, protein binding, glycerol-3-phosphate O-acyltransferase activity, glycerol-3-phosphate O-acyltransferase activity, glycerol-3-phosphate O-acyltransferase activity, GO:0070236, GO:0055091, GO:0055089, GO:0051607, GO:0045540, GO:0042104, GO:0040018, GO:0033146, GO:0032623, GO:0019432, GO:0019432, GO:0019432, GO:0016024, GO:0009749, GO:0008654, GO:0006655, GO:0006654, GO:0006654, GO:0006651, GO:0006637, GO:0006631, GO:0006072, GO:0001817, negative regulation of activation-induced cell death of T cells, phospholipid homeostasis, fatty acid homeostasis, defense response to virus, regulation of cholesterol biosynthetic process, positive regulation of activated T cell proliferation, positive regulation of multicellular organism growth, regulation of intracellular estrogen receptor signaling pathway, interleukin-2 production, triglyceride biosynthetic process, triglyceride biosynthetic process, triglyceride biosynthetic process, CDP-diacylglycerol biosynthetic process, response to glucose, phospholipid biosynthetic process, phosphatidylglycerol biosynthetic process, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, diacylglycerol biosynthetic process, acyl-CoA metabolic process, fatty acid metabolic process, glycerol-3-phosphate metabolic process, regulation of cytokine production, 3 4 10 13 8 17 10 10 17 ENSG00000119929 chr10 99702558 99756134 + CUTC protein_coding Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008]. 51076 GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0005507, GO:0005507, GO:0005507, protein binding, copper ion binding, copper ion binding, copper ion binding, GO:0055070, GO:0055070, GO:0051262, GO:0006825, copper ion homeostasis, copper ion homeostasis, protein tetramerization, copper ion transport, 168 143 154 73 110 91 107 103 115 ENSG00000119938 chr10 91628442 91633054 - PPP1R3C protein_coding This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]. 5507 GO:0005829, GO:0000164, cytosol, protein phosphatase type 1 complex, GO:2001069, GO:0019903, GO:0008157, GO:0005515, GO:0004722, glycogen binding, protein phosphatase binding, protein phosphatase 1 binding, protein binding, protein serine/threonine phosphatase activity, GO:0006470, GO:0005979, GO:0005978, GO:0005978, GO:0005977, protein dephosphorylation, regulation of glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000119943 chr10 98383565 98415184 - PYROXD2 protein_coding 84795 GO:0005759, mitochondrial matrix, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, GO:0007005, oxidation-reduction process, mitochondrion organization, 31 43 55 39 41 58 37 24 37 ENSG00000119946 chr10 99329099 99394330 + CNNM1 protein_coding This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 26507 GO:0043231, GO:0043025, GO:0030425, GO:0016021, GO:0005886, intracellular membrane-bounded organelle, neuronal cell body, dendrite, integral component of membrane, plasma membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, GO:0006811, GO:0006810, transmembrane transport, ion transport, transport, 0 0 1 2 0 0 0 0 0 ENSG00000119950 chr10 110207605 110287365 + MXI1 protein_coding Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]. 4601 GO:0090575, GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, cytosol, nucleolus, nucleoplasm, nucleus, chromatin, chromatin, GO:0046983, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein dimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 404 441 500 202 332 352 220 314 272 ENSG00000119953 chr10 110290730 110304951 - SMNDC1 protein_coding This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]. 10285 GO:0016607, GO:0015030, GO:0005737, GO:0005681, GO:0005654, GO:0005634, nuclear speck, Cajal body, cytoplasm, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006915, GO:0000398, GO:0000375, apoptotic process, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 645 586 849 281 505 366 367 351 395 ENSG00000119965 chr10 122930903 122954403 - C10orf88 protein_coding 80007 GO:0005739, GO:0005737, mitochondrion, cytoplasm, GO:0042802, GO:0016887, GO:0005515, identical protein binding, ATPase activity, protein binding, 7 11 8 22 12 22 17 9 14 ENSG00000119969 chr10 94501434 94613905 + HELLS protein_coding This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]. 3070 GO:0005721, GO:0005721, GO:0005634, GO:0000775, pericentric heterochromatin, pericentric heterochromatin, nucleus, chromosome, centromeric region, GO:0005524, GO:0005515, GO:0004386, GO:0003682, ATP binding, protein binding, helicase activity, chromatin binding, GO:0051301, GO:0046651, GO:0046651, GO:0031508, GO:0031508, GO:0010216, GO:0010216, GO:0007275, GO:0007049, GO:0006346, GO:0006346, GO:0006306, cell division, lymphocyte proliferation, lymphocyte proliferation, pericentric heterochromatin assembly, pericentric heterochromatin assembly, maintenance of DNA methylation, maintenance of DNA methylation, multicellular organism development, cell cycle, DNA methylation-dependent heterochromatin assembly, DNA methylation-dependent heterochromatin assembly, DNA methylation, 1 1 13 20 16 26 15 1 13 ENSG00000119973 chr10 118589989 118595699 - PRLHR protein_coding PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008]. 2834 GO:0005929, GO:0005887, GO:0005886, cilium, integral component of plasma membrane, plasma membrane, GO:0008188, GO:0005515, GO:0004983, GO:0004930, neuropeptide receptor activity, protein binding, neuropeptide Y receptor activity, G protein-coupled receptor activity, GO:0042445, GO:0007631, GO:0007565, GO:0007218, GO:0007186, hormone metabolic process, feeding behavior, female pregnancy, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000119977 chr10 95663396 95694143 - TCTN3 protein_coding This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]. 26123 GO:0060170, GO:0016021, GO:0005634, ciliary membrane, integral component of membrane, nucleus, GO:0005515, protein binding, GO:0097711, GO:0060271, GO:0060271, GO:0043065, GO:0007224, GO:0007224, GO:0006915, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, positive regulation of apoptotic process, smoothened signaling pathway, smoothened signaling pathway, apoptotic process, 11 10 21 25 10 28 8 24 34 ENSG00000119979 chr10 119104086 119137984 + FAM45A protein_coding 404636 GO:0005770, GO:0005770, late endosome, late endosome, GO:0031267, GO:0031267, GO:0005085, GO:0005085, small GTPase binding, small GTPase binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000641, GO:2000641, GO:0032509, GO:0015031, GO:0015031, regulation of early endosome to late endosome transport, regulation of early endosome to late endosome transport, endosome transport via multivesicular body sorting pathway, protein transport, protein transport, 503 407 436 331 562 433 391 341 319 ENSG00000119986 chr10 97677424 97687323 - AVPI1 protein_coding 60370 GO:0005515, protein binding, GO:0007049, GO:0000187, cell cycle, activation of MAPK activity, 7 4 8 20 10 12 22 2 13 ENSG00000120008 chr10 120851175 120909524 + WDR11 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]. 55717 GO:0036064, GO:0031410, GO:0016020, GO:0015630, GO:0005930, GO:0005829, GO:0005802, GO:0005765, GO:0005737, GO:0005737, GO:0005634, ciliary basal body, cytoplasmic vesicle, membrane, microtubule cytoskeleton, axoneme, cytosol, trans-Golgi network, lysosomal membrane, cytoplasm, cytoplasm, nucleus, GO:0005515, protein binding, GO:0099041, GO:0060322, GO:0060271, GO:0035264, GO:0008589, GO:0007507, GO:0006886, vesicle tethering to Golgi, head development, cilium assembly, multicellular organism growth, regulation of smoothened signaling pathway, heart development, intracellular protein transport, 50 73 142 153 80 193 115 86 99 ENSG00000120029 chr10 101845599 102056193 - ARMH3 protein_coding 79591 GO:0016021, GO:0005829, GO:0000139, integral component of membrane, cytosol, Golgi membrane, GO:0005515, protein binding, GO:1903358, regulation of Golgi organization, 64 92 114 77 93 127 88 57 88 ENSG00000120049 chr10 101825974 101843920 - KCNIP2 protein_coding This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]. 30819 GO:0045202, GO:0034705, GO:0008076, GO:0008076, GO:0005886, GO:0005737, synapse, potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, cytoplasm, GO:0086008, GO:0047485, GO:0046923, GO:0044325, GO:0015459, GO:0005515, GO:0005509, GO:0005250, GO:0005250, voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization, protein N-terminus binding, ER retention sequence binding, ion channel binding, potassium channel regulator activity, protein binding, calcium ion binding, A-type (transient outward) potassium channel activity, A-type (transient outward) potassium channel activity, GO:1903818, GO:1903766, GO:1901379, GO:1901379, GO:0097623, GO:0086013, GO:0086009, GO:0061337, GO:0045163, GO:0008016, GO:0007268, GO:0007165, GO:0006936, GO:0006813, GO:0005513, positive regulation of voltage-gated potassium channel activity, positive regulation of potassium ion export across plasma membrane, regulation of potassium ion transmembrane transport, regulation of potassium ion transmembrane transport, potassium ion export across plasma membrane, membrane repolarization during cardiac muscle cell action potential, membrane repolarization, cardiac conduction, clustering of voltage-gated potassium channels, regulation of heart contraction, chemical synaptic transmission, signal transduction, muscle contraction, potassium ion transport, detection of calcium ion, 0 2 1 5 9 5 1 1 0 ENSG00000120051 chr10 104353764 104455090 + CFAP58 protein_coding 159686 GO:0005929, GO:0005856, GO:0005615, cilium, cytoskeleton, extracellular space, GO:0005515, protein binding, 91 77 75 58 108 106 106 91 64 ENSG00000120053 chr10 99396870 99431569 - GOT1 protein_coding Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]. 2805 GO:0070062, GO:0043679, GO:0005829, GO:0005829, GO:0005829, GO:0005764, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, axon terminus, cytosol, cytosol, cytosol, lysosome, cytoplasm, nucleoplasm, nucleus, GO:0047801, GO:0031406, GO:0030170, GO:0004609, GO:0004069, GO:0004069, GO:0004069, L-cysteine:2-oxoglutarate aminotransferase activity, carboxylic acid binding, pyridoxal phosphate binding, phosphatidylserine decarboxylase activity, L-aspartate:2-oxoglutarate aminotransferase activity, L-aspartate:2-oxoglutarate aminotransferase activity, L-aspartate:2-oxoglutarate aminotransferase activity, GO:1990267, GO:0071260, GO:0060290, GO:0055089, GO:0051902, GO:0051481, GO:0051384, GO:0046686, GO:0035902, GO:0032966, GO:0032869, GO:0030511, GO:0019551, GO:0019550, GO:0009743, GO:0008652, GO:0007219, GO:0006536, GO:0006533, GO:0006532, GO:0006531, GO:0006114, GO:0006107, GO:0006103, GO:0006094, response to transition metal nanoparticle, cellular response to mechanical stimulus, transdifferentiation, fatty acid homeostasis, negative regulation of mitochondrial depolarization, negative regulation of cytosolic calcium ion concentration, response to glucocorticoid, response to cadmium ion, response to immobilization stress, negative regulation of collagen biosynthetic process, cellular response to insulin stimulus, positive regulation of transforming growth factor beta receptor signaling pathway, glutamate catabolic process to 2-oxoglutarate, glutamate catabolic process to aspartate, response to carbohydrate, cellular amino acid biosynthetic process, Notch signaling pathway, glutamate metabolic process, aspartate catabolic process, aspartate biosynthetic process, aspartate metabolic process, glycerol biosynthetic process, oxaloacetate metabolic process, 2-oxoglutarate metabolic process, gluconeogenesis, 9 9 17 9 14 9 23 12 5 ENSG00000120054 chr10 100042193 100081877 - CPN1 protein_coding Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]. 1369 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008270, GO:0005515, GO:0004181, zinc ion binding, protein binding, metallocarboxypeptidase activity, GO:0051384, GO:0030449, GO:0016485, GO:0010815, GO:0006518, response to glucocorticoid, regulation of complement activation, protein processing, bradykinin catabolic process, peptide metabolic process, 0 0 0 5 0 0 0 0 0 ENSG00000120055 chr10 102449837 102451543 - C10orf95 protein_coding 79946 3 4 7 9 1 9 16 4 14 ENSG00000120057 chr10 97766751 97771952 - SFRP5 protein_coding Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008]. 6425 GO:0005615, extracellular space, GO:0017147, GO:0017147, Wnt-protein binding, Wnt-protein binding, GO:2000057, GO:0090090, GO:0090090, GO:0060070, GO:0051898, GO:0043433, GO:0035567, GO:0030510, GO:0030178, GO:0030154, GO:0009653, GO:0008285, GO:0007601, GO:0007275, GO:0007165, GO:0007163, GO:0006915, negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, canonical Wnt signaling pathway, negative regulation of protein kinase B signaling, negative regulation of DNA-binding transcription factor activity, non-canonical Wnt signaling pathway, regulation of BMP signaling pathway, negative regulation of Wnt signaling pathway, cell differentiation, anatomical structure morphogenesis, negative regulation of cell population proliferation, visual perception, multicellular organism development, signal transduction, establishment or maintenance of cell polarity, apoptotic process, 0 0 3 4 2 3 1 3 3 ENSG00000120063 chr17 65010715 65056839 - GNA13 protein_coding 10672 GO:0070062, GO:0042470, GO:0031526, GO:0016020, GO:0005925, GO:0005886, GO:0005834, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, melanosome, brush border membrane, membrane, focal adhesion, plasma membrane, heterotrimeric G-protein complex, cytosol, cytoplasm, nucleus, GO:0046872, GO:0031752, GO:0031683, GO:0005525, GO:0005515, GO:0003924, GO:0001664, metal ion binding, D5 dopamine receptor binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activity, G protein-coupled receptor binding, GO:0051056, GO:0043065, GO:0031584, GO:0030334, GO:0030168, GO:0030154, GO:0008360, GO:0007266, GO:0007204, GO:0007189, GO:0007188, GO:0007188, GO:0007186, GO:0007165, GO:0001701, GO:0001569, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, activation of phospholipase D activity, regulation of cell migration, platelet activation, cell differentiation, regulation of cell shape, Rho protein signal transduction, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, in utero embryonic development, branching involved in blood vessel morphogenesis, 8585 8707 8912 2968 4587 4285 3807 3793 3852 ENSG00000120068 chr17 48611377 48614939 - HOXB8 protein_coding This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]. 3218 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0001227, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048704, GO:0045638, GO:0021516, GO:0019233, GO:0009952, GO:0008344, GO:0007625, GO:0006357, GO:0000122, embryonic skeletal system morphogenesis, negative regulation of myeloid cell differentiation, dorsal spinal cord development, sensory perception of pain, anterior/posterior pattern specification, adult locomotory behavior, grooming behavior, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000120071 chr17 46029916 46225389 - KANSL1 protein_coding This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]. 284058 GO:0071339, GO:0044545, GO:0005654, GO:0005654, GO:0005634, GO:0000777, GO:0000123, MLL1 complex, NSL complex, nucleoplasm, nucleoplasm, nucleus, condensed chromosome kinetochore, histone acetyltransferase complex, GO:0046972, GO:0046972, GO:0043996, GO:0043996, GO:0043995, GO:0043995, GO:0035035, GO:0005515, histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), histone acetyltransferase activity (H4-K5 specific), histone acetyltransferase binding, protein binding, GO:0043984, GO:0043982, GO:0043981, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, 50 61 56 33 64 40 16 42 29 ENSG00000120075 chr17 48591257 48593961 - HOXB5 protein_coding This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]. 3215 GO:0005829, GO:0005654, GO:0005634, GO:0001650, GO:0000785, cytosol, nucleoplasm, nucleus, fibrillar center, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048704, GO:0045944, GO:0045446, GO:0009952, GO:0009653, GO:0006357, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, endothelial cell differentiation, anterior/posterior pattern specification, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000120088 chr17 45784280 45835828 + CRHR1 protein_coding This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants. Naturally-occurring readthrough transcription between this gene and upstream GeneID:147081 results in transcripts that encode isoforms that share similarity with the products of this gene. [provided by RefSeq, Aug 2016]. 1394 GO:0043005, GO:0031226, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005768, neuron projection, intrinsic component of plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endosome, GO:0051424, GO:0043404, GO:0017046, GO:0015056, GO:0015056, GO:0008528, GO:0005515, corticotropin-releasing hormone binding, corticotropin-releasing hormone receptor activity, peptide hormone binding, corticotrophin-releasing factor receptor activity, corticotrophin-releasing factor receptor activity, G protein-coupled peptide receptor activity, protein binding, GO:2000852, GO:1901386, GO:0071376, GO:0051458, GO:0010578, GO:0009755, GO:0007567, GO:0007565, GO:0007190, GO:0007189, GO:0007189, GO:0007188, GO:0007186, GO:0007166, GO:0006955, regulation of corticosterone secretion, negative regulation of voltage-gated calcium channel activity, cellular response to corticotropin-releasing hormone stimulus, corticotropin secretion, regulation of adenylate cyclase activity involved in G protein-coupled receptor signaling pathway, hormone-mediated signaling pathway, parturition, female pregnancy, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000120093 chr17 48548870 48604912 - HOXB3 protein_coding This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]. 3213 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060324, GO:0060216, GO:0051216, GO:0050767, GO:0048704, GO:0045944, GO:0030878, GO:0021615, GO:0021546, GO:0009952, GO:0006357, GO:0002244, GO:0001525, GO:0000122, face development, definitive hemopoiesis, cartilage development, regulation of neurogenesis, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, thyroid gland development, glossopharyngeal nerve morphogenesis, rhombomere development, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, hematopoietic progenitor cell differentiation, angiogenesis, negative regulation of transcription by RNA polymerase II, 2 3 9 27 4 34 19 3 12 ENSG00000120094 chr17 48528526 48531001 - HOXB1 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]. 3211 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0019904, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein domain specific binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048704, GO:0048646, GO:0045944, GO:0021754, GO:0021612, GO:0021571, GO:0021570, GO:0009952, GO:0007389, GO:0007275, GO:0006357, GO:0006355, embryonic skeletal system morphogenesis, anatomical structure formation involved in morphogenesis, positive regulation of transcription by RNA polymerase II, facial nucleus development, facial nerve structural organization, rhombomere 5 development, rhombomere 4 development, anterior/posterior pattern specification, pattern specification process, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000120129 chr5 172768090 172771195 - DUSP1 protein_coding The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]. 1843 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0106307, GO:0106306, GO:0051019, GO:0051019, GO:0019838, GO:0017017, GO:0017017, GO:0008330, GO:0008138, GO:0005515, GO:0004725, GO:0004722, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, mitogen-activated protein kinase binding, growth factor binding, MAP kinase tyrosine/serine/threonine phosphatase activity, MAP kinase tyrosine/serine/threonine phosphatase activity, protein tyrosine/threonine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, GO:2000279, GO:1990869, GO:1903753, GO:1903753, GO:0090266, GO:0090027, GO:0071850, GO:0070373, GO:0070262, GO:0051592, GO:0051591, GO:0051447, GO:0051384, GO:0043409, GO:0043407, GO:0043066, GO:0043065, GO:0042542, GO:0035970, GO:0035970, GO:0035556, GO:0035335, GO:0035335, GO:0035335, GO:0033574, GO:0032870, GO:0032526, GO:0032355, GO:0009416, GO:0008285, GO:0007162, GO:0006470, GO:0001706, GO:0000188, GO:0000188, negative regulation of DNA biosynthetic process, cellular response to chemokine, negative regulation of p38MAPK cascade, negative regulation of p38MAPK cascade, regulation of mitotic cell cycle spindle assembly checkpoint, negative regulation of monocyte chemotaxis, mitotic cell cycle arrest, negative regulation of ERK1 and ERK2 cascade, peptidyl-serine dephosphorylation, response to calcium ion, response to cAMP, negative regulation of meiotic cell cycle, response to glucocorticoid, negative regulation of MAPK cascade, negative regulation of MAP kinase activity, negative regulation of apoptotic process, positive regulation of apoptotic process, response to hydrogen peroxide, peptidyl-threonine dephosphorylation, peptidyl-threonine dephosphorylation, intracellular signal transduction, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, response to testosterone, cellular response to hormone stimulus, response to retinoic acid, response to estradiol, response to light stimulus, negative regulation of cell population proliferation, negative regulation of cell adhesion, protein dephosphorylation, endoderm formation, inactivation of MAPK activity, inactivation of MAPK activity, 6662 9374 12097 84547 141084 118789 93643 133763 112400 ENSG00000120137 chr5 168548495 168579600 - PANK3 protein_coding This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]. 79646 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:1905502, GO:0042803, GO:0019842, GO:0005524, GO:0004594, GO:0004594, GO:0004594, acetyl-CoA binding, protein homodimerization activity, vitamin binding, ATP binding, pantothenate kinase activity, pantothenate kinase activity, pantothenate kinase activity, GO:0016310, GO:0016310, GO:0015937, GO:0015937, GO:0015937, GO:0015937, phosphorylation, phosphorylation, coenzyme A biosynthetic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, 272 306 414 343 204 323 331 167 232 ENSG00000120149 chr5 174724533 174730893 + MSX2 protein_coding This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]. 4488 GO:0016607, GO:0005829, GO:0005634, GO:0000785, nuclear speck, cytosol, nucleus, chromatin, GO:1990837, GO:0043565, GO:0008134, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, transcription factor binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001055, GO:2000678, GO:0090427, GO:0071392, GO:0070166, GO:0061312, GO:0060444, GO:0060364, GO:0060363, GO:0060346, GO:0051795, GO:0048863, GO:0048598, GO:0045892, GO:0045669, GO:0045617, GO:0045599, GO:0043066, GO:0035880, GO:0035313, GO:0035116, GO:0035115, GO:0032792, GO:0030513, GO:0023019, GO:0009952, GO:0008285, GO:0006357, GO:0003416, GO:0003198, GO:0003148, GO:0002076, GO:0002063, GO:0001649, GO:0000122, GO:0000122, positive regulation of mesenchymal cell apoptotic process, negative regulation of transcription regulatory region DNA binding, activation of meiosis, cellular response to estradiol stimulus, enamel mineralization, BMP signaling pathway involved in heart development, branching involved in mammary gland duct morphogenesis, frontal suture morphogenesis, cranial suture morphogenesis, bone trabecula formation, positive regulation of timing of catagen, stem cell differentiation, embryonic morphogenesis, negative regulation of transcription, DNA-templated, positive regulation of osteoblast differentiation, negative regulation of keratinocyte differentiation, negative regulation of fat cell differentiation, negative regulation of apoptotic process, embryonic nail plate morphogenesis, wound healing, spreading of epidermal cells, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, negative regulation of CREB transcription factor activity, positive regulation of BMP signaling pathway, signal transduction involved in regulation of gene expression, anterior/posterior pattern specification, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, endochondral bone growth, epithelial to mesenchymal transition involved in endocardial cushion formation, outflow tract septum morphogenesis, osteoblast development, chondrocyte development, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 1 0 0 0 0 ENSG00000120156 chr9 27109141 27230175 + TEK protein_coding This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]. 7010 GO:0045121, GO:0043235, GO:0034451, GO:0016324, GO:0016323, GO:0009986, GO:0009925, GO:0005925, GO:0005911, GO:0005902, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005884, GO:0005737, GO:0005576, GO:0001725, membrane raft, receptor complex, centriolar satellite, apical plasma membrane, basolateral plasma membrane, cell surface, basal plasma membrane, focal adhesion, cell-cell junction, microvillus, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, actin filament, cytoplasm, extracellular region, stress fiber, GO:0042802, GO:0038023, GO:0019838, GO:0005524, GO:0005515, GO:0004714, GO:0004713, GO:0004713, GO:0004672, identical protein binding, signaling receptor activity, growth factor binding, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, GO:2000352, GO:2000351, GO:2000251, GO:1902533, GO:0072012, GO:0070374, GO:0070374, GO:0060347, GO:0060216, GO:0051897, GO:0051897, GO:0051897, GO:0051894, GO:0051591, GO:0050900, GO:0050728, GO:0048014, GO:0046777, GO:0045766, GO:0045766, GO:0045766, GO:0043627, GO:0043552, GO:0043434, GO:0043410, GO:0043114, GO:0043066, GO:0034446, GO:0033674, GO:0032878, GO:0018108, GO:0016525, GO:0014068, GO:0014068, GO:0010595, GO:0010595, GO:0010595, GO:0007507, GO:0007275, GO:0007267, GO:0007169, GO:0007169, GO:0007165, GO:0002040, GO:0001958, GO:0001938, GO:0001935, GO:0001935, GO:0001934, GO:0001934, GO:0001666, GO:0001525, GO:0001525, GO:0000165, negative regulation of endothelial cell apoptotic process, regulation of endothelial cell apoptotic process, positive regulation of actin cytoskeleton reorganization, positive regulation of intracellular signal transduction, glomerulus vasculature development, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, heart trabecula formation, definitive hemopoiesis, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of focal adhesion assembly, response to cAMP, leukocyte migration, negative regulation of inflammatory response, Tie signaling pathway, protein autophosphorylation, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of angiogenesis, response to estrogen, positive regulation of phosphatidylinositol 3-kinase activity, response to peptide hormone, positive regulation of MAPK cascade, regulation of vascular permeability, negative regulation of apoptotic process, substrate adhesion-dependent cell spreading, positive regulation of kinase activity, regulation of establishment or maintenance of cell polarity, peptidyl-tyrosine phosphorylation, negative regulation of angiogenesis, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of endothelial cell migration, positive regulation of endothelial cell migration, positive regulation of endothelial cell migration, heart development, multicellular organism development, cell-cell signaling, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, sprouting angiogenesis, endochondral ossification, positive regulation of endothelial cell proliferation, endothelial cell proliferation, endothelial cell proliferation, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, response to hypoxia, angiogenesis, angiogenesis, MAPK cascade, 44 18 11 30 27 6 13 16 12 ENSG00000120158 chr9 4792869 4885917 + RCL1 protein_coding 10171 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0005515, GO:0004521, protein binding, endoribonuclease activity, GO:0008150, GO:0006364, GO:0000480, GO:0000479, GO:0000447, biological_process, rRNA processing, endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 17 13 18 11 7 8 16 11 13 ENSG00000120159 chr9 26840685 26892804 - CAAP1 protein_coding 79886 GO:2001268, GO:2001268, GO:0006915, negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, apoptotic process, 17 21 28 30 17 57 11 15 34 ENSG00000120160 chr9 27284659 27297139 - EQTN protein_coding 54586 GO:0016021, GO:0005886, GO:0002081, GO:0002081, GO:0002079, GO:0002079, integral component of membrane, plasma membrane, outer acrosomal membrane, outer acrosomal membrane, inner acrosomal membrane, inner acrosomal membrane, GO:0060478, GO:0007342, GO:0006897, acrosomal vesicle exocytosis, fusion of sperm to egg plasma membrane involved in single fertilization, endocytosis, 0 0 0 0 4 0 0 0 0 ENSG00000120162 chr9 27325209 27529781 - MOB3B protein_coding The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008]. 79817 GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0035330, regulation of hippo signaling, 14 7 13 19 22 11 13 9 11 ENSG00000120210 chr9 5123880 5185668 - INSL6 protein_coding The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]. 11172 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005179, hormone activity, GO:0008150, GO:0007165, biological_process, signal transduction, 8 11 9 17 15 24 13 7 9 ENSG00000120211 chr9 5231419 5235304 + INSL4 protein_coding INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]. 3641 GO:0005615, extracellular space, GO:0005179, GO:0005159, GO:0005102, hormone activity, insulin-like growth factor receptor binding, signaling receptor binding, GO:1901384, GO:0007267, GO:0007165, positive regulation of chorionic trophoblast cell proliferation, cell-cell signaling, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000120215 chr9 5890802 5910606 + MLANA protein_coding 2315 GO:0042470, GO:0042470, GO:0005887, GO:0005802, GO:0005802, GO:0005794, GO:0005789, GO:0005789, melanosome, melanosome, integral component of plasma membrane, trans-Golgi network, trans-Golgi network, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, 21 30 38 25 40 46 22 17 33 ENSG00000120217 chr9 5450503 5470566 + CD274 protein_coding This gene encodes an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Expression of this gene in tumor cells is considered to be prognostic in many types of human malignancies, including colon cancer and renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 29126 GO:0070062, GO:0055038, GO:0031901, GO:0016021, GO:0009897, GO:0005886, GO:0005886, extracellular exosome, recycling endosome membrane, early endosome membrane, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:2001186, GO:2000562, GO:1905404, GO:1905399, GO:1903556, GO:1901998, GO:0071222, GO:0070232, GO:0046007, GO:0046006, GO:0042130, GO:0042102, GO:0042102, GO:0034097, GO:0032733, GO:0032693, GO:0032689, GO:0031295, GO:0031295, GO:0031295, GO:0030335, GO:0007166, GO:0007166, GO:0007165, GO:0006955, GO:0006955, GO:0002845, GO:0002250, negative regulation of CD8-positive, alpha-beta T cell activation, negative regulation of CD4-positive, alpha-beta T cell proliferation, positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process, regulation of activated CD4-positive, alpha-beta T cell apoptotic process, negative regulation of tumor necrosis factor superfamily cytokine production, toxin transport, cellular response to lipopolysaccharide, regulation of T cell apoptotic process, negative regulation of activated T cell proliferation, regulation of activated T cell proliferation, negative regulation of T cell proliferation, positive regulation of T cell proliferation, positive regulation of T cell proliferation, response to cytokine, positive regulation of interleukin-10 production, negative regulation of interleukin-10 production, negative regulation of interferon-gamma production, T cell costimulation, T cell costimulation, T cell costimulation, positive regulation of cell migration, cell surface receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, immune response, immune response, positive regulation of tolerance induction to tumor cell, adaptive immune response, 148 58 230 91 91 100 84 71 87 ENSG00000120235 chr9 21349835 21351378 - IFNA6 protein_coding 3443 GO:0005615, GO:0005576, GO:0005575, extracellular space, extracellular region, cellular_component, GO:0005515, GO:0005132, GO:0005125, protein binding, type I interferon receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000120242 chr9 21409147 21410185 + IFNA8 protein_coding 3445 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005132, GO:0005126, GO:0005125, protein binding, type I interferon receptor binding, cytokine receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000120251 chr4 157204182 157366075 + GRIA2 protein_coding Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]. 2891 GO:0098843, GO:0098839, GO:0098794, GO:0060076, GO:0043197, GO:0043197, GO:0043025, GO:0032281, GO:0032281, GO:0032279, GO:0030666, GO:0030425, GO:0014069, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005789, postsynaptic endocytic zone, postsynaptic density membrane, postsynapse, excitatory synapse, dendritic spine, dendritic spine, neuronal cell body, AMPA glutamate receptor complex, AMPA glutamate receptor complex, asymmetric synapse, endocytic vesicle membrane, dendrite, postsynaptic density, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0038023, GO:0015276, GO:0005515, GO:0004971, GO:0004971, GO:0004971, GO:0004970, GO:0001540, GO:0001540, signaling receptor activity, ligand-gated ion channel activity, protein binding, AMPA glutamate receptor activity, AMPA glutamate receptor activity, AMPA glutamate receptor activity, ionotropic glutamate receptor activity, amyloid-beta binding, amyloid-beta binding, GO:2000310, GO:0035249, GO:0035235, GO:0034220, GO:0007268, GO:0007165, regulation of NMDA receptor activity, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, chemical synaptic transmission, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000120253 chr6 149724315 149749665 - NUP43 protein_coding Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]. 348995 GO:0043657, GO:0031080, GO:0031080, GO:0031080, GO:0005829, GO:0005635, GO:0000777, GO:0000776, host cell, nuclear pore outer ring, nuclear pore outer ring, nuclear pore outer ring, cytosol, nuclear envelope, condensed chromosome kinetochore, kinetochore, GO:0005515, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0051301, GO:0019083, GO:0016925, GO:0016032, GO:0007059, GO:0007049, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, cell division, viral transcription, protein sumoylation, viral process, chromosome segregation, cell cycle, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 25 9 36 43 36 51 48 15 37 ENSG00000120254 chr6 150865549 151101887 + MTHFD1L protein_coding The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]. 25902 GO:0016020, GO:0005829, GO:0005759, GO:0005739, GO:0005739, membrane, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0042803, GO:0005524, GO:0004488, GO:0004329, protein homodimerization activity, ATP binding, methylenetetrahydrofolate dehydrogenase (NADP+) activity, formate-tetrahydrofolate ligase activity, GO:0055114, GO:0048703, GO:0048702, GO:0046655, GO:0035999, GO:0035999, GO:0015942, GO:0009257, GO:0006760, GO:0001843, oxidation-reduction process, embryonic viscerocranium morphogenesis, embryonic neurocranium morphogenesis, folic acid metabolic process, tetrahydrofolate interconversion, tetrahydrofolate interconversion, formate metabolic process, 10-formyltetrahydrofolate biosynthetic process, folic acid-containing compound metabolic process, neural tube closure, 2 4 3 11 1 6 7 6 8 ENSG00000120256 chr6 149818798 149864026 - LRP11 protein_coding 84918 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0051219, phosphoprotein binding, GO:0042594, GO:0035902, GO:0033555, GO:0009612, GO:0009414, GO:0009409, GO:0009408, response to starvation, response to immobilization stress, multicellular organismal response to stress, response to mechanical stimulus, response to water deprivation, response to cold, response to heat, 1 0 0 0 0 0 2 0 0 ENSG00000120262 chr6 151494030 151621193 + CCDC170 protein_coding The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]. 80129 GO:0036064, GO:0005794, ciliary basal body, Golgi apparatus, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0000226, microtubule cytoskeleton organization, 80 98 55 24 37 18 39 45 18 ENSG00000120265 chr6 149749443 149811420 + PCMT1 protein_coding This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]. 5110 GO:1903561, GO:0070062, GO:0005829, GO:0005829, GO:0005737, extracellular vesicle, extracellular exosome, cytosol, cytosol, cytoplasm, GO:0045296, GO:0005515, GO:0004719, GO:0004719, cadherin binding, protein binding, protein-L-isoaspartate (D-aspartate) O-methyltransferase activity, protein-L-isoaspartate (D-aspartate) O-methyltransferase activity, GO:0030091, GO:0006479, protein repair, protein methylation, 278 248 270 159 233 168 182 186 190 ENSG00000120278 chr6 150599883 150843665 + PLEKHG1 protein_coding 57480 GO:0005654, nucleoplasm, GO:0005085, guanyl-nucleotide exchange factor activity, 4 16 12 15 8 24 15 16 17 ENSG00000120279 chr6 152697895 152724567 + MYCT1 protein_coding 80177 GO:0043231, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, nucleoplasm, nucleoplasm, 2 4 7 0 1 0 0 0 0 ENSG00000120280 chrX 30558824 30577844 - CXorf21 protein_coding 80231 GO:0036020, GO:0005634, endolysosome membrane, nucleus, GO:0005515, protein binding, GO:0045089, GO:0045087, GO:0035751, GO:0035751, GO:0034161, GO:0034157, positive regulation of innate immune response, innate immune response, regulation of lysosomal lumen pH, regulation of lysosomal lumen pH, positive regulation of toll-like receptor 8 signaling pathway, positive regulation of toll-like receptor 7 signaling pathway, 391 316 722 287 338 267 270 236 204 ENSG00000120289 chrX 30242052 30244193 + MAGEB4 protein_coding This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008]. 4115 GO:0005737, cytoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000120306 chr5 140174642 140282052 + CYSTM1 protein_coding 84418 GO:0070821, GO:0070062, GO:0016021, GO:0005886, tertiary granule membrane, extracellular exosome, integral component of membrane, plasma membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0043312, GO:0008150, neutrophil degranulation, biological_process, 950 832 1381 340 750 542 474 623 503 ENSG00000120314 chr5 140664676 140674124 + WDR55 protein_coding 54853 GO:0005737, GO:0005730, GO:0005730, GO:0005654, cytoplasm, nucleolus, nucleolus, nucleoplasm, GO:0003674, molecular_function, GO:0008150, GO:0006364, biological_process, rRNA processing, 482 562 712 486 776 841 433 475 533 ENSG00000120318 chr5 141653401 141682221 - ARAP3 protein_coding This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]. 64411 GO:0030027, GO:0005886, GO:0005856, GO:0005829, GO:0001726, lamellipodium, plasma membrane, cytoskeleton, cytosol, ruffle, GO:0046872, GO:0043325, GO:0005547, GO:0005515, GO:0005096, GO:0005096, metal ion binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0051056, GO:0043547, GO:0016192, GO:0007165, GO:0007010, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, vesicle-mediated transport, signal transduction, cytoskeleton organization, 2227 3068 3701 1564 2860 2472 1698 1983 2329 ENSG00000120322 chr5 141177790 141180529 + PCDHB8 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56128 GO:0005887, integral component of plasma membrane, GO:0042802, GO:0005509, identical protein binding, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000120324 chr5 141192353 141195642 + PCDHB10 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56126 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007416, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000120327 chr5 141222932 141227759 + PCDHB14 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56122 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0016339, GO:0007416, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000120328 chr5 141208697 141212571 + PCDHB12 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56124 GO:0005887, integral component of plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000120329 chr5 141302629 141304045 - SLC25A2 protein_coding This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [provided by RefSeq, Dec 2014]. 83884 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0005515, GO:0000064, protein binding, L-ornithine transmembrane transporter activity, GO:1990575, GO:0000050, mitochondrial L-ornithine transmembrane transport, urea cycle, 2 0 0 1 3 9 0 1 0 ENSG00000120332 chr1 175067858 175148066 + TNN protein_coding 63923 GO:1990026, GO:0097442, GO:0062023, GO:0043025, GO:0009986, GO:0005615, GO:0005575, hippocampal mossy fiber expansion, CA3 pyramidal cell dendrite, collagen-containing extracellular matrix, neuronal cell body, cell surface, extracellular space, cellular_component, GO:0042802, GO:0005178, GO:0003674, identical protein binding, integrin binding, molecular_function, GO:2001223, GO:1990138, GO:1905240, GO:0070593, GO:0045668, GO:0033689, GO:0007409, GO:0007160, GO:0002076, negative regulation of neuron migration, neuron projection extension, negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation, dendrite self-avoidance, negative regulation of osteoblast differentiation, negative regulation of osteoblast proliferation, axonogenesis, cell-matrix adhesion, osteoblast development, 0 0 0 0 0 0 0 0 0 ENSG00000120333 chr1 175010789 175023425 - MRPS14 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]. 63931 GO:0015935, GO:0005763, GO:0005763, GO:0005761, GO:0005743, small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0032543, GO:0006412, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, translation, 41 46 42 25 42 35 28 21 22 ENSG00000120334 chr1 173799550 173824720 - CENPL protein_coding CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]. 91687 GO:0005829, GO:0005654, GO:0000775, cytosol, nucleoplasm, chromosome, centromeric region, GO:0005515, protein binding, GO:0034080, CENP-A containing nucleosome assembly, 6 6 21 11 5 22 15 11 17 ENSG00000120337 chr1 173039960 173050963 - TNFSF18 protein_coding The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008]. 8995 GO:0016021, GO:0009986, GO:0009986, GO:0005886, GO:0005615, integral component of membrane, cell surface, cell surface, plasma membrane, extracellular space, GO:0042802, GO:0032813, GO:0032813, GO:0005515, GO:0005125, GO:0005102, identical protein binding, tumor necrosis factor receptor superfamily binding, tumor necrosis factor receptor superfamily binding, protein binding, cytokine activity, signaling receptor binding, GO:0051092, GO:0045785, GO:0043066, GO:0042531, GO:0042129, GO:0042129, GO:0033209, GO:0033209, GO:0033209, GO:0007267, GO:0007165, GO:0002687, GO:0002309, GO:0002309, GO:0002250, positive regulation of NF-kappaB transcription factor activity, positive regulation of cell adhesion, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, regulation of T cell proliferation, regulation of T cell proliferation, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, cell-cell signaling, signal transduction, positive regulation of leukocyte migration, T cell proliferation involved in immune response, T cell proliferation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000120341 chr1 177923956 177984303 - SEC16B protein_coding SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009]. 89866 GO:0070971, GO:0070971, GO:0043231, GO:0012507, GO:0005829, GO:0005789, GO:0000139, endoplasmic reticulum exit site, endoplasmic reticulum exit site, intracellular membrane-bounded organelle, ER to Golgi transport vesicle membrane, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, protein binding, GO:0070973, GO:0070863, GO:0070863, GO:0048208, GO:0048208, GO:0016559, GO:0015031, GO:0010628, GO:0007031, GO:0007030, GO:0007029, GO:0007029, GO:0006914, GO:0006888, GO:0006888, protein localization to endoplasmic reticulum exit site, positive regulation of protein exit from endoplasmic reticulum, positive regulation of protein exit from endoplasmic reticulum, COPII vesicle coating, COPII vesicle coating, peroxisome fission, protein transport, positive regulation of gene expression, peroxisome organization, Golgi organization, endoplasmic reticulum organization, endoplasmic reticulum organization, autophagy, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 0 0 0 0 0 0 0 ENSG00000120370 chr1 170532129 170553446 + GORAB protein_coding This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. 92344 GO:0005829, GO:0005794, GO:0005737, GO:0005730, GO:0005654, cytosol, Golgi apparatus, cytoplasm, nucleolus, nucleoplasm, GO:0005515, protein binding, GO:1905515, GO:1901622, GO:0031069, non-motile cilium assembly, positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, hair follicle morphogenesis, 17 8 26 36 12 34 25 5 20 ENSG00000120436 chr6 167156271 167158329 - GPR31 protein_coding 2853 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0050544, GO:0045125, GO:0005515, GO:0004930, arachidonic acid binding, bioactive lipid receptor activity, protein binding, G protein-coupled receptor activity, GO:0050778, GO:0050728, GO:0010447, GO:0007186, GO:0007186, GO:0006629, GO:0002931, GO:0002237, positive regulation of immune response, negative regulation of inflammatory response, response to acidic pH, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, lipid metabolic process, response to ischemia, response to molecule of bacterial origin, 0 0 0 0 0 0 0 0 0 ENSG00000120437 chr6 159760328 159779055 + ACAT2 protein_coding The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]. 39 GO:0070062, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005730, GO:0005654, extracellular exosome, cytosol, cytosol, mitochondrion, cytoplasm, nucleolus, nucleoplasm, GO:0005515, GO:0003985, GO:0003985, protein binding, acetyl-CoA C-acetyltransferase activity, acetyl-CoA C-acetyltransferase activity, GO:0006695, GO:0006635, GO:0006629, cholesterol biosynthetic process, fatty acid beta-oxidation, lipid metabolic process, 46 42 73 91 65 111 74 61 109 ENSG00000120438 chr6 159778498 159789749 - TCP1 protein_coding The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]. 6950 GO:0070062, GO:0044297, GO:0005874, GO:0005832, GO:0005832, GO:0005829, GO:0005813, GO:0005794, GO:0002199, GO:0001669, GO:0000792, GO:0000242, extracellular exosome, cell body, microtubule, chaperonin-containing T-complex, chaperonin-containing T-complex, cytosol, centrosome, Golgi apparatus, zona pellucida receptor complex, acrosomal vesicle, heterochromatin, pericentriolar material, GO:0051082, GO:0031625, GO:0005524, GO:0005515, GO:0003723, unfolded protein binding, ubiquitin protein ligase binding, ATP binding, protein binding, RNA binding, GO:2000109, GO:1904874, GO:1904874, GO:1904871, GO:1904851, GO:1901998, GO:0090666, GO:0051973, GO:0050821, GO:0044053, GO:0035722, GO:0032212, GO:0007339, GO:0007021, GO:0006457, GO:0006457, regulation of macrophage apoptotic process, positive regulation of telomerase RNA localization to Cajal body, positive regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, toxin transport, scaRNA localization to Cajal body, positive regulation of telomerase activity, protein stabilization, translocation of peptides or proteins into host cell cytoplasm, interleukin-12-mediated signaling pathway, positive regulation of telomere maintenance via telomerase, binding of sperm to zona pellucida, tubulin complex assembly, protein folding, protein folding, 589 627 1078 714 787 675 491 485 543 ENSG00000120440 chr6 167325071 167359503 + TTLL2 protein_coding 83887 GO:0005929, cilium, GO:0070740, GO:0015631, GO:0005524, tubulin-glutamic acid ligase activity, tubulin binding, ATP binding, GO:0018095, GO:0000226, protein polyglutamylation, microtubule cytoskeleton organization, 0 1 0 1 0 0 2 0 0 ENSG00000120451 chr11 130875436 130916509 - SNX19 protein_coding Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]. 399979 GO:0031901, GO:0030659, GO:0005737, early endosome membrane, cytoplasmic vesicle membrane, cytoplasm, GO:0032266, GO:0005515, phosphatidylinositol-3-phosphate binding, protein binding, GO:1990502, GO:0030073, GO:0006887, GO:0002062, dense core granule maturation, insulin secretion, exocytosis, chondrocyte differentiation, 391 499 700 306 499 533 438 408 482 ENSG00000120457 chr11 128891356 128921035 + KCNJ5 protein_coding This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]. 3762 GO:0030315, GO:0009897, GO:0008076, GO:0005886, GO:0005886, T-tubule, external side of plasma membrane, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:1902282, GO:0086089, GO:0015467, GO:0005515, GO:0005242, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization, G-protein activated inward rectifier potassium channel activity, protein binding, inward rectifier potassium channel activity, GO:1990573, GO:1990573, GO:0099625, GO:0098915, GO:0098914, GO:0086091, GO:0034765, GO:0006813, potassium ion import across plasma membrane, potassium ion import across plasma membrane, ventricular cardiac muscle cell membrane repolarization, membrane repolarization during ventricular cardiac muscle cell action potential, membrane repolarization during atrial cardiac muscle cell action potential, regulation of heart rate by cardiac conduction, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000120458 chr11 124766498 124800673 - MSANTD2 protein_coding 79684 5 6 33 29 4 38 22 6 25 ENSG00000120471 chr11 128934731 128943399 - TP53AIP1 protein_coding This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 63970 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0003674, molecular_function, GO:0042981, GO:0006915, regulation of apoptotic process, apoptotic process, 0 0 0 2 0 0 0 0 0 ENSG00000120498 chrX 70528940 70908731 - TEX11 protein_coding This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 56159 GO:0000801, GO:0000795, central element, synaptonemal complex, GO:0005515, protein binding, GO:0051026, GO:0043066, GO:0009566, GO:0008584, GO:0007131, GO:0007131, GO:0007130, GO:0007060, GO:0006311, GO:0000712, chiasma assembly, negative regulation of apoptotic process, fertilization, male gonad development, reciprocal meiotic recombination, reciprocal meiotic recombination, synaptonemal complex assembly, male meiosis chromosome segregation, meiotic gene conversion, resolution of meiotic recombination intermediates, 0 0 0 0 0 0 0 0 0 ENSG00000120500 chrX 70268305 70281840 + ARR3 protein_coding The protein encoded by this gene is a non-visual arrestin which binds to agonist-activated, phosphorylated G protein-coupled receptors. This binding uncouples the receptor from the heterotrimeric G protein, resulting in termination of the G protein-coupled receptor signaling. The encoded protein also is a part of the centrosome, interacting with gamma-tubulin to help regulate proper centrosome function. [provided by RefSeq, May 2016]. 407 GO:0045202, GO:0005737, GO:0001917, GO:0001750, synapse, cytoplasm, photoreceptor inner segment, photoreceptor outer segment, GO:0051219, GO:0005515, GO:0002046, GO:0001664, phosphoprotein binding, protein binding, opsin binding, G protein-coupled receptor binding, GO:0007601, GO:0007165, GO:0002031, GO:0001932, visual perception, signal transduction, G protein-coupled receptor internalization, regulation of protein phosphorylation, 5 3 7 9 2 3 12 5 2 ENSG00000120509 chrX 70286595 70290514 - PDZD11 protein_coding 51248 GO:0098793, GO:0046930, GO:0045202, GO:0016323, GO:0005912, GO:0005911, GO:0005829, GO:0005576, presynapse, pore complex, synapse, basolateral plasma membrane, adherens junction, cell-cell junction, cytosol, extracellular region, GO:0005515, protein binding, GO:1903361, GO:0055085, GO:0046931, GO:0045199, GO:0034220, GO:0019730, GO:0015939, GO:0007269, GO:0006768, protein localization to basolateral plasma membrane, transmembrane transport, pore complex assembly, maintenance of epithelial cell apical/basal polarity, ion transmembrane transport, antimicrobial humoral response, pantothenate metabolic process, neurotransmitter secretion, biotin metabolic process, 16 10 25 31 10 11 27 8 15 ENSG00000120519 chr4 146253975 146521964 - SLC10A7 protein_coding 84068 GO:0031226, GO:0016021, GO:0005886, GO:0005802, GO:0005801, GO:0005797, GO:0005794, GO:0005789, GO:0005783, GO:0000139, intrinsic component of plasma membrane, integral component of membrane, plasma membrane, trans-Golgi network, cis-Golgi network, Golgi medial cisterna, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0015293, GO:0015125, symporter activity, bile acid transmembrane transporter activity, GO:0060348, GO:0055085, GO:0048193, GO:0034436, GO:0030210, GO:0015721, GO:0006874, GO:0006814, bone development, transmembrane transport, Golgi vesicle transport, glycoprotein transport, heparin biosynthetic process, bile acid and bile salt transport, cellular calcium ion homeostasis, sodium ion transport, 12 6 25 37 11 22 18 4 12 ENSG00000120526 chr8 109240919 109334385 - NUDCD1 protein_coding 84955 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0005515, protein binding, GO:0002376, immune system process, 56 37 54 48 51 80 32 54 40 ENSG00000120533 chr8 109334324 109345953 + ENY2 protein_coding 56943 GO:0071819, GO:0071819, GO:0070390, GO:0044615, GO:0005739, GO:0005654, GO:0000124, GO:0000124, DUBm complex, DUBm complex, transcription export complex 2, nuclear pore nuclear basket, mitochondrion, nucleoplasm, SAGA complex, SAGA complex, GO:0030374, GO:0005515, GO:0003713, GO:0003713, GO:0003682, nuclear receptor coactivator activity, protein binding, transcription coactivator activity, transcription coactivator activity, chromatin binding, GO:0061179, GO:0045893, GO:0016973, GO:0016973, GO:0016578, GO:0016578, GO:0006368, GO:0006357, negative regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of transcription, DNA-templated, poly(A)+ mRNA export from nucleus, poly(A)+ mRNA export from nucleus, histone deubiquitination, histone deubiquitination, transcription elongation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 345 353 355 234 440 395 248 292 262 ENSG00000120539 chr10 27154824 27186924 + MASTL protein_coding This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]. 84930 GO:0032154, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cleavage furrow, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0051721, GO:0016301, GO:0005524, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, protein phosphatase 2A binding, kinase activity, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1904668, GO:0051726, GO:0051301, GO:0035556, GO:0032515, GO:0018105, GO:0007147, GO:0006974, GO:0000278, GO:0000086, positive regulation of ubiquitin protein ligase activity, regulation of cell cycle, cell division, intracellular signal transduction, negative regulation of phosphoprotein phosphatase activity, peptidyl-serine phosphorylation, female meiosis II, cellular response to DNA damage stimulus, mitotic cell cycle, G2/M transition of mitotic cell cycle, 327 393 387 285 236 279 267 185 211 ENSG00000120549 chr10 23694746 24547848 + KIAA1217 protein_coding 56243 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0030234, GO:0003674, enzyme regulator activity, molecular_function, GO:0048706, embryonic skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000120555 chr10 38383069 38402916 - SEPT7P9 transcribed_unprocessed_pseudogene 0 0 2 0 0 3 0 0 0 ENSG00000120563 chr10 29289061 29318328 + LYZL1 protein_coding 84569 GO:0005576, extracellular region, GO:0003796, lysozyme activity, GO:0008152, metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000120594 chr10 19816239 20289856 + PLXDC2 protein_coding 84898 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1677 1576 1965 470 901 721 573 749 721 ENSG00000120616 chr10 32267751 32378798 - EPC1 protein_coding This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 80314 GO:0035267, GO:0032777, GO:0032777, GO:0031965, GO:0016604, GO:0005654, GO:0005654, GO:0005634, NuA4 histone acetyltransferase complex, Piccolo NuA4 histone acetyltransferase complex, Piccolo NuA4 histone acetyltransferase complex, nuclear membrane, nuclear body, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0004402, GO:0004402, protein binding, histone acetyltransferase activity, histone acetyltransferase activity, GO:0070317, GO:0045944, GO:0045893, GO:0045892, GO:0045814, GO:0043968, GO:0043967, GO:0040008, GO:0035886, GO:0006357, GO:0006351, GO:0000122, negative regulation of G0 to G1 transition, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of gene expression, epigenetic, histone H2A acetylation, histone H4 acetylation, regulation of growth, vascular associated smooth muscle cell differentiation, regulation of transcription by RNA polymerase II, transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 617 597 934 681 693 672 606 547 560 ENSG00000120645 chr12 66765 178460 + IQSEC3 protein_coding 440073 GO:0099629, GO:0060077, GO:0045211, GO:0014069, GO:0005829, GO:0005654, postsynaptic specialization of symmetric synapse, inhibitory synapse, postsynaptic membrane, postsynaptic density, cytosol, nucleoplasm, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0032012, GO:0030036, regulation of ARF protein signal transduction, actin cytoskeleton organization, 0 0 2 0 0 1 0 0 0 ENSG00000120647 chr12 389273 442645 + CCDC77 protein_coding 84318 GO:0016020, GO:0005813, GO:0005813, membrane, centrosome, centrosome, 62 48 81 62 67 44 61 50 63 ENSG00000120656 chr1 28589323 28643085 - TAF12 protein_coding Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2008]. 6883 GO:0046695, GO:0033276, GO:0030914, GO:0005669, GO:0005669, GO:0005654, GO:0005634, GO:0000124, SLIK (SAGA-like) complex, transcription factor TFTC complex, STAGA complex, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleus, SAGA complex, GO:0046982, GO:0017025, GO:0016251, GO:0008134, GO:0005515, GO:0003713, GO:0003677, GO:0003677, protein heterodimerization activity, TBP-class protein binding, RNA polymerase II general transcription initiation factor activity, transcription factor binding, protein binding, transcription coactivator activity, DNA binding, DNA binding, GO:1903508, GO:1901796, GO:0051123, GO:0051091, GO:0043966, GO:0006367, GO:0006367, GO:0006366, GO:0006352, positive regulation of nucleic acid-templated transcription, regulation of signal transduction by p53 class mediator, RNA polymerase II preinitiation complex assembly, positive regulation of DNA-binding transcription factor activity, histone H3 acetylation, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, DNA-templated transcription, initiation, 428 325 426 138 301 222 177 298 244 ENSG00000120658 chr13 43213518 43786908 - ENOX1 protein_coding The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]. 55068 GO:0009897, GO:0005886, GO:0005615, external side of plasma membrane, plasma membrane, extracellular space, GO:0016491, GO:0005515, GO:0003676, oxidoreductase activity, protein binding, nucleic acid binding, GO:0055114, GO:0007624, oxidation-reduction process, ultradian rhythm, 0 0 0 0 0 0 0 0 0 ENSG00000120659 chr13 42562736 42608013 + TNFSF11 protein_coding This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]. 8600 GO:0005887, GO:0005886, GO:0005737, GO:0005615, GO:0005576, GO:0005576, integral component of plasma membrane, plasma membrane, cytoplasm, extracellular space, extracellular region, extracellular region, GO:0042802, GO:0032813, GO:0005515, GO:0005164, GO:0005125, GO:0005125, identical protein binding, tumor necrosis factor receptor superfamily binding, protein binding, tumor necrosis factor receptor binding, cytokine activity, cytokine activity, GO:2001206, GO:1990830, GO:1904616, GO:1902533, GO:0071848, GO:0071847, GO:0071812, GO:0070371, GO:0060749, GO:0055074, GO:0051897, GO:0051466, GO:0051092, GO:0051091, GO:0050870, GO:0045944, GO:0045780, GO:0045672, GO:0045453, GO:0044691, GO:0043406, GO:0043123, GO:0038001, GO:0036035, GO:0034112, GO:0033598, GO:0033209, GO:0033209, GO:0030316, GO:0030316, GO:0030316, GO:0019722, GO:0019221, GO:0007257, GO:0006955, GO:0002548, GO:0002158, GO:0001503, positive regulation of osteoclast development, cellular response to leukemia inhibitory factor, regulation of actin binding, positive regulation of intracellular signal transduction, positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling, TNFSF11-mediated signaling pathway, positive regulation of fever generation by positive regulation of prostaglandin secretion, ERK1 and ERK2 cascade, mammary gland alveolus development, calcium ion homeostasis, positive regulation of protein kinase B signaling, positive regulation of corticotropin-releasing hormone secretion, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of T cell activation, positive regulation of transcription by RNA polymerase II, positive regulation of bone resorption, positive regulation of osteoclast differentiation, bone resorption, tooth eruption, positive regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, paracrine signaling, osteoclast development, positive regulation of homotypic cell-cell adhesion, mammary gland epithelial cell proliferation, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, osteoclast differentiation, osteoclast differentiation, osteoclast differentiation, calcium-mediated signaling, cytokine-mediated signaling pathway, activation of JUN kinase activity, immune response, monocyte chemotaxis, osteoclast proliferation, ossification, 0 1 0 1 0 0 0 2 0 ENSG00000120662 chr13 41216369 41263577 - MTRF1 protein_coding The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]. 9617 GO:0005739, mitochondrion, GO:0003747, translation release factor activity, GO:0070126, GO:0006449, mitochondrial translational termination, regulation of translational termination, 56 59 65 99 110 128 102 92 88 ENSG00000120664 chr13 36346431 36369601 + SPART-AS1 antisense 0 0 1 0 4 4 1 0 0 ENSG00000120669 chr13 36168208 36214615 - SOHLH2 protein_coding This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]. 54937 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:1990837, GO:0046982, GO:0042803, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein heterodimerization activity, protein homodimerization activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030154, GO:0030154, GO:0009994, GO:0007283, GO:0007275, GO:0006357, positive regulation of transcription by RNA polymerase II, cell differentiation, cell differentiation, oocyte differentiation, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000120675 chr13 43023203 43114224 + DNAJC15 protein_coding 29103 GO:0016021, GO:0001405, integral component of membrane, PAM complex, Tim23 associated import motor, GO:0005515, GO:0001671, protein binding, ATPase activator activity, GO:1902957, GO:0032781, GO:0031333, GO:0030150, GO:0019216, GO:0009267, negative regulation of mitochondrial electron transport, NADH to ubiquinone, positive regulation of ATPase activity, negative regulation of protein-containing complex assembly, protein import into mitochondrial matrix, regulation of lipid metabolic process, cellular response to starvation, 16 6 13 35 18 27 16 9 27 ENSG00000120685 chr13 39009866 39038076 - PROSER1 protein_coding This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]. 80209 45 45 86 89 55 93 76 42 88 ENSG00000120686 chr13 38349849 38363619 + UFM1 protein_coding UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]. 51569 GO:0005783, GO:0005737, GO:0005737, GO:0005634, GO:0005634, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:1990592, GO:1990592, GO:0071569, GO:0071569, GO:0061709, GO:0043066, GO:0042308, GO:0034976, GO:0034976, GO:0033146, GO:0007420, protein K69-linked ufmylation, protein K69-linked ufmylation, protein ufmylation, protein ufmylation, reticulophagy, negative regulation of apoptotic process, negative regulation of protein import into nucleus, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, regulation of intracellular estrogen receptor signaling pathway, brain development, 305 267 338 331 240 404 293 216 262 ENSG00000120688 chr13 41061274 41084006 + WBP4 protein_coding This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]. 11193 GO:0071011, GO:0071005, GO:0016607, GO:0005654, GO:0005634, precatalytic spliceosome, U2-type precatalytic spliceosome, nuclear speck, nucleoplasm, nucleus, GO:0070064, GO:0008270, GO:0005515, GO:0003723, proline-rich region binding, zinc ion binding, protein binding, RNA binding, GO:0045292, GO:0008380, GO:0000398, GO:0000398, mRNA cis splicing, via spliceosome, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 114 128 178 90 159 116 104 132 79 ENSG00000120690 chr13 40932028 41061440 - ELF1 protein_coding This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]. 1997 GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050860, GO:0050855, GO:0045944, GO:0045893, GO:0045893, GO:0030154, GO:0006357, GO:0001959, GO:0001817, negative regulation of T cell receptor signaling pathway, regulation of B cell receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, cell differentiation, regulation of transcription by RNA polymerase II, regulation of cytokine-mediated signaling pathway, regulation of cytokine production, 5154 5631 7548 1318 2124 1569 1366 1681 1274 ENSG00000120693 chr13 36844831 36920765 - SMAD9 protein_coding The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]. 4093 GO:0071144, GO:0071141, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, heteromeric SMAD protein complex, SMAD protein complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0070411, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000978, GO:0000978, I-SMAD binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901522, GO:0071773, GO:0060395, GO:0060395, GO:0060395, GO:0030509, GO:0030509, GO:0030509, GO:0030154, GO:0009653, GO:0007179, GO:0006357, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, cellular response to BMP stimulus, SMAD protein signal transduction, SMAD protein signal transduction, SMAD protein signal transduction, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, cell differentiation, anatomical structure morphogenesis, transforming growth factor beta receptor signaling pathway, regulation of transcription by RNA polymerase II, 0 0 0 1 1 3 0 0 5 ENSG00000120694 chr13 31134974 31162388 - HSPH1 protein_coding This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the aggregation of misfolded proteins, including the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [provided by RefSeq, Mar 2017]. 10808 GO:0071682, GO:0070062, GO:0032991, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005576, endocytic vesicle lumen, extracellular exosome, protein-containing complex, microtubule, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, extracellular region, GO:0043014, GO:0005524, GO:0005515, GO:0000774, alpha-tubulin binding, ATP binding, protein binding, adenyl-nucleotide exchange factor activity, GO:1900034, GO:0051135, GO:0051085, GO:0050790, GO:0045345, GO:0006986, GO:0006898, regulation of cellular response to heat, positive regulation of NK T cell activation, chaperone cofactor-dependent protein refolding, regulation of catalytic activity, positive regulation of MHC class I biosynthetic process, response to unfolded protein, receptor-mediated endocytosis, 534 811 2212 2309 1622 1880 927 445 513 ENSG00000120696 chr13 41189833 41194566 - KBTBD7 protein_coding The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]. 84078 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0043687, GO:0008150, GO:0000165, post-translational protein modification, biological_process, MAPK cascade, 238 184 165 114 194 209 213 207 170 ENSG00000120697 chr13 36949775 37000261 - ALG5 protein_coding This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. 29880 GO:0016021, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0004581, GO:0004576, dolichyl-phosphate beta-glucosyltransferase activity, oligosaccharyl transferase activity, GO:0018279, GO:0007368, GO:0006487, GO:0006486, protein N-linked glycosylation via asparagine, determination of left/right symmetry, protein N-linked glycosylation, protein glycosylation, 9 8 20 26 18 44 15 25 21 ENSG00000120699 chr13 36998816 37009613 + EXOSC8 protein_coding This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]. 11340 GO:0043231, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001650, GO:0000178, GO:0000177, GO:0000176, intracellular membrane-bounded organelle, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, fibrillar center, exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), GO:0042802, GO:0035925, GO:0017091, GO:0005515, GO:0004532, identical protein binding, mRNA 3'-UTR AU-rich region binding, AU-rich element binding, protein binding, exoribonuclease activity, GO:0071042, GO:0071038, GO:0071035, GO:0071028, GO:0043928, GO:0043928, GO:0043488, GO:0034476, GO:0034475, GO:0034473, GO:0034427, GO:0016075, GO:0008150, GO:0006364, GO:0000467, nuclear polyadenylation-dependent mRNA catabolic process, nuclear polyadenylation-dependent tRNA catabolic process, nuclear polyadenylation-dependent rRNA catabolic process, nuclear mRNA surveillance, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, U5 snRNA 3'-end processing, U4 snRNA 3'-end processing, U1 snRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', rRNA catabolic process, biological_process, rRNA processing, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 69 56 80 106 87 127 78 90 101 ENSG00000120705 chr5 138506095 138543300 - ETF1 protein_coding This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013]. 2107 GO:0018444, GO:0005829, GO:0005829, GO:0005737, GO:0005634, translation release factor complex, cytosol, cytosol, cytoplasm, nucleus, GO:1990825, GO:1990825, GO:0043022, GO:0016149, GO:0008079, GO:0005515, GO:0003747, GO:0003747, GO:0003723, sequence-specific mRNA binding, sequence-specific mRNA binding, ribosome binding, translation release factor activity, codon specific, translation termination factor activity, protein binding, translation release factor activity, translation release factor activity, RNA binding, GO:0006479, GO:0006449, GO:0006415, GO:0002184, GO:0000184, protein methylation, regulation of translational termination, translational termination, cytoplasmic translational termination, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 9028 8115 9711 17110 16298 19480 16078 11071 12924 ENSG00000120708 chr5 136028895 136063818 + TGFBI protein_coding This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]. 7045 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005886, GO:0005802, GO:0005615, GO:0005615, GO:0005604, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, plasma membrane, trans-Golgi network, extracellular space, extracellular space, basement membrane, extracellular region, extracellular region, GO:0050840, GO:0050839, GO:0042802, GO:0005518, GO:0005515, GO:0005201, GO:0005201, GO:0005178, extracellular matrix binding, cell adhesion molecule binding, identical protein binding, collagen binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, integrin binding, GO:0050896, GO:0044267, GO:0030198, GO:0008283, GO:0007601, GO:0007162, GO:0007155, GO:0002062, GO:0001525, response to stimulus, cellular protein metabolic process, extracellular matrix organization, cell population proliferation, visual perception, negative regulation of cell adhesion, cell adhesion, chondrocyte differentiation, angiogenesis, 18 37 59 66 90 143 62 71 104 ENSG00000120709 chr5 138331935 138349729 + FAM53C protein_coding The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. 51307 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006606, protein import into nucleus, 6333 6319 6285 9760 13088 9741 8709 6634 6273 ENSG00000120725 chr5 138946720 139293557 - SIL1 protein_coding This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]. 64374 GO:0005788, GO:0005783, GO:0005615, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:0006886, GO:0006457, intracellular protein transport, protein folding, 11 22 29 21 19 34 24 14 7 ENSG00000120727 chr5 139341587 139369720 + PAIP2 protein_coding 51247 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0030371, GO:0030371, GO:0005515, GO:0003729, GO:0000900, translation repressor activity, translation repressor activity, protein binding, mRNA binding, translation repressor activity, mRNA regulatory element binding, GO:1900271, GO:0045947, GO:0017148, GO:0007613, GO:0007283, regulation of long-term synaptic potentiation, negative regulation of translational initiation, negative regulation of translation, memory, spermatogenesis, 2582 2456 2806 722 1450 1145 1000 1499 909 ENSG00000120729 chr5 137867791 137887851 + MYOT protein_coding This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]. 9499 GO:0043025, GO:0042383, GO:0030424, GO:0030018, GO:0030018, GO:0015629, GO:0005886, neuronal cell body, sarcolemma, axon, Z disc, Z disc, actin cytoskeleton, plasma membrane, GO:0051393, GO:0008307, GO:0008046, GO:0005515, GO:0003779, alpha-actinin binding, structural constituent of muscle, axon guidance receptor activity, protein binding, actin binding, GO:0050808, GO:0007411, GO:0007156, GO:0006936, synapse organization, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, muscle contraction, 1 0 0 3 0 3 0 0 0 ENSG00000120733 chr5 138352596 138437028 + KDM3B protein_coding 51780 GO:0005654, GO:0005654, GO:0000785, GO:0000118, nucleoplasm, nucleoplasm, chromatin, histone deacetylase complex, GO:0051213, GO:0046872, GO:0032454, GO:0031490, GO:0016209, GO:0003712, dioxygenase activity, metal ion binding, histone demethylase activity (H3-K9 specific), chromatin DNA binding, antioxidant activity, transcription coregulator activity, GO:0098869, GO:0072718, GO:0055114, GO:0033169, GO:0006357, cellular oxidant detoxification, response to cisplatin, oxidation-reduction process, histone H3-K9 demethylation, regulation of transcription by RNA polymerase II, 2205 2129 2585 1191 1695 1477 1271 1241 1144 ENSG00000120738 chr5 138465490 138469315 + EGR1 protein_coding The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]. 1958 GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromatin, GO:1990841, GO:1990837, GO:0044729, GO:0043565, GO:0035035, GO:0010385, GO:0008270, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, hemi-methylated DNA-binding, sequence-specific DNA binding, histone acetyltransferase binding, double-stranded methylated DNA binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000182, GO:1902949, GO:1902895, GO:1901216, GO:0098759, GO:0090090, GO:0072303, GO:0072110, GO:0071506, GO:0071504, GO:0071480, GO:0070498, GO:0061418, GO:0060337, GO:0060086, GO:0046886, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045475, GO:0044849, GO:0042981, GO:0035914, GO:0033233, GO:0032922, GO:0032868, GO:0032731, GO:0032722, GO:0030509, GO:0030217, GO:0010628, GO:0009749, GO:0006357, GO:0002931, GO:0001666, GO:0000122, regulation of progesterone biosynthetic process, positive regulation of tau-protein kinase activity, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of neuron death, cellular response to interleukin-8, negative regulation of canonical Wnt signaling pathway, positive regulation of glomerular metanephric mesangial cell proliferation, glomerular mesangial cell proliferation, cellular response to mycophenolic acid, cellular response to heparin, cellular response to gamma radiation, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, type I interferon signaling pathway, circadian temperature homeostasis, positive regulation of hormone biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, locomotor rhythm, estrous cycle, regulation of apoptotic process, skeletal muscle cell differentiation, regulation of protein sumoylation, circadian regulation of gene expression, response to insulin, positive regulation of interleukin-1 beta production, positive regulation of chemokine production, BMP signaling pathway, T cell differentiation, positive regulation of gene expression, response to glucose, regulation of transcription by RNA polymerase II, response to ischemia, response to hypoxia, negative regulation of transcription by RNA polymerase II, 111 103 106 66140 153158 126772 69020 106297 95631 ENSG00000120742 chr3 150541994 150603228 - SERP1 protein_coding 27230 GO:0016021, GO:0005881, GO:0005840, GO:0005829, GO:0005789, GO:0005783, integral component of membrane, cytoplasmic microtubule, ribosome, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0036498, GO:0030968, GO:0015031, GO:0007009, GO:0006486, GO:0006464, IRE1-mediated unfolded protein response, endoplasmic reticulum unfolded protein response, protein transport, plasma membrane organization, protein glycosylation, cellular protein modification process, 2460 1979 3148 1490 1672 1953 1705 1578 1738 ENSG00000120756 chr3 142596387 142713664 + PLS1 protein_coding Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]. 5357 GO:1990357, GO:0070062, GO:0032432, GO:0032420, GO:0005903, GO:0005884, GO:0005737, terminal web, extracellular exosome, actin filament bundle, stereocilium, brush border, actin filament, cytoplasm, GO:0051015, GO:0005509, GO:0005200, actin filament binding, calcium ion binding, structural constituent of cytoskeleton, GO:1903078, GO:1902896, GO:0060121, GO:0060088, GO:0051639, GO:0051017, GO:0040018, GO:0032532, GO:0001951, positive regulation of protein localization to plasma membrane, terminal web assembly, vestibular receptor cell stereocilium organization, auditory receptor cell stereocilium organization, actin filament network formation, actin filament bundle assembly, positive regulation of multicellular organism growth, regulation of microvillus length, intestinal D-glucose absorption, 2 2 3 3 0 9 6 1 1 ENSG00000120784 chr19 37613749 37692337 - ZFP30 protein_coding 22835 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 5 11 24 3 11 17 1 16 ENSG00000120798 chr12 95020229 95073703 - NR2C1 protein_coding This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. 7181 GO:0016605, GO:0005654, GO:0000785, GO:0000785, PML body, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0042826, GO:0042803, GO:0038023, GO:0008270, GO:0005515, GO:0004879, GO:0003707, GO:0003677, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, histone deacetylase binding, protein homodimerization activity, signaling receptor activity, zinc ion binding, protein binding, nuclear receptor activity, steroid hormone receptor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048856, GO:0048386, GO:0043401, GO:0030522, GO:0030154, GO:0006367, GO:0006357, GO:0000122, GO:0000122, anatomical structure development, positive regulation of retinoic acid receptor signaling pathway, steroid hormone mediated signaling pathway, intracellular receptor signaling pathway, cell differentiation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 30 22 41 80 22 61 72 22 61 ENSG00000120800 chr12 101280109 101386616 + UTP20 protein_coding UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]. 27340 GO:0032040, GO:0032040, GO:0030688, GO:0030686, GO:0030686, GO:0005886, GO:0005737, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005654, small-subunit processome, small-subunit processome, preribosome, small subunit precursor, 90S preribosome, 90S preribosome, plasma membrane, cytoplasm, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0008285, GO:0006364, GO:0006364, GO:0000480, GO:0000472, GO:0000447, negative regulation of cell population proliferation, rRNA processing, rRNA processing, endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 28 12 48 58 20 77 41 13 65 ENSG00000120802 chr12 98515512 98550379 + TMPO protein_coding Through alternative splicing, this gene encodes several distinct LEM domain containing protein isoforms. LEM domain proteins include inner nuclear membrane and intranuclear proteins, and are involved in a variety of cellular functions including gene expression, chromatin organization, and replication and cell cycle control. The encoded alpha isoform is broadly diffuse in the nucleus and contains a lamin binding domain, while the beta and gamma isoforms are localized to the nuclear membrane and contain an HDAC3 interaction domain. The distinct isoforms may compete with each other when acting to chaperone other proteins and regulate transcription. [provided by RefSeq, Aug 2019]. 7112 GO:0005635, GO:0005634, GO:0000785, nuclear envelope, nucleus, chromatin, GO:0045296, GO:0005521, GO:0005515, GO:0003677, cadherin binding, lamin binding, protein binding, DNA binding, GO:0006355, regulation of transcription, DNA-templated, 87 80 200 240 114 367 242 126 253 ENSG00000120805 chr12 101393120 101407820 - ARL1 protein_coding The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. 400 GO:0032588, GO:0005829, GO:0005802, GO:0005802, GO:0005794, GO:0005794, GO:0005737, GO:0005737, trans-Golgi network membrane, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, Golgi apparatus, cytoplasm, cytoplasm, GO:0046872, GO:0019904, GO:0008047, GO:0005525, GO:0005525, GO:0003924, metal ion binding, protein domain specific binding, enzyme activator activity, GTP binding, GTP binding, GTPase activity, GO:0048193, GO:0042147, GO:0034067, GO:0031584, GO:0016192, GO:0009404, GO:0007030, GO:0006886, Golgi vesicle transport, retrograde transport, endosome to Golgi, protein localization to Golgi apparatus, activation of phospholipase D activity, vesicle-mediated transport, toxin metabolic process, Golgi organization, intracellular protein transport, 17 12 47 41 27 42 28 15 71 ENSG00000120820 chr12 103988984 104064183 - GLT8D2 protein_coding 83468 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, GO:0016757, transferase activity, transferring glycosyl groups, 0 0 2 4 0 0 1 3 4 ENSG00000120832 chr12 106977291 106987166 - MTERF2 protein_coding 80298 GO:0042645, GO:0005759, GO:0005739, mitochondrial nucleoid, mitochondrial matrix, mitochondrion, GO:0005515, GO:0003690, GO:0003677, GO:0003676, protein binding, double-stranded DNA binding, DNA binding, nucleic acid binding, GO:0006393, GO:0006355, termination of mitochondrial transcription, regulation of transcription, DNA-templated, 90 62 113 93 93 153 125 66 111 ENSG00000120833 chr12 93569814 93583487 + SOCS2 protein_coding This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 8835 GO:0005942, GO:0005829, GO:0005737, phosphatidylinositol 3-kinase complex, cytosol, cytoplasm, GO:0046935, GO:0008269, GO:0005515, GO:0005159, GO:0005131, 1-phosphatidylinositol-3-kinase regulator activity, JAK pathway signal transduction adaptor activity, protein binding, insulin-like growth factor receptor binding, growth hormone receptor binding, GO:0060749, GO:0060396, GO:0046854, GO:0046426, GO:0045666, GO:0043687, GO:0043551, GO:0043066, GO:0040015, GO:0038111, GO:0035556, GO:0032870, GO:0032355, GO:0016567, GO:0009966, GO:0007595, GO:0007259, GO:0001558, mammary gland alveolus development, growth hormone receptor signaling pathway, phosphatidylinositol phosphorylation, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of neuron differentiation, post-translational protein modification, regulation of phosphatidylinositol 3-kinase activity, negative regulation of apoptotic process, negative regulation of multicellular organism growth, interleukin-7-mediated signaling pathway, intracellular signal transduction, cellular response to hormone stimulus, response to estradiol, protein ubiquitination, regulation of signal transduction, lactation, receptor signaling pathway via JAK-STAT, regulation of cell growth, 15 35 24 58 69 60 49 35 33 ENSG00000120837 chr12 104117077 104138289 - NFYB protein_coding The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]. 4801 GO:0090575, GO:0032993, GO:0016602, GO:0016602, GO:0005654, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, protein-DNA complex, CCAAT-binding factor complex, CCAAT-binding factor complex, nucleoplasm, nucleus, nucleus, chromatin, GO:0070491, GO:0046982, GO:0044877, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000976, repressing transcription factor binding, protein heterodimerization activity, protein-containing complex binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990830, GO:0045944, GO:0045540, GO:0006357, GO:0006355, cellular response to leukemia inhibitory factor, positive regulation of transcription by RNA polymerase II, regulation of cholesterol biosynthetic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 78 90 135 91 82 96 74 73 105 ENSG00000120860 chr12 102012927 102062149 - WASHC3 protein_coding 51019 GO:0071203, GO:0071203, GO:0005769, WASH complex, WASH complex, early endosome, GO:0005515, protein binding, GO:0030041, GO:0015031, GO:0008150, GO:0006887, actin filament polymerization, protein transport, biological_process, exocytosis, 56 61 83 81 75 93 76 56 113 ENSG00000120868 chr12 98645141 98735433 + APAF1 protein_coding This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 317 GO:1904813, GO:0070062, GO:0043293, GO:0043293, GO:0034774, GO:0032991, GO:0005829, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, apoptosome, apoptosome, secretory granule lumen, protein-containing complex, cytosol, nucleus, extracellular region, GO:0043531, GO:0042802, GO:0031072, GO:0008656, GO:0005524, GO:0005515, GO:0000166, ADP binding, identical protein binding, heat shock protein binding, cysteine-type endopeptidase activator activity involved in apoptotic process, ATP binding, protein binding, nucleotide binding, GO:2001235, GO:1902510, GO:0097193, GO:0072432, GO:0071560, GO:0070317, GO:0070059, GO:0051402, GO:0043312, GO:0043065, GO:0042981, GO:0030900, GO:0030154, GO:0010659, GO:0008635, GO:0008635, GO:0007584, GO:0007568, GO:0007399, GO:0006919, GO:0006915, GO:0001843, GO:0001822, GO:0001666, positive regulation of apoptotic signaling pathway, regulation of apoptotic DNA fragmentation, intrinsic apoptotic signaling pathway, response to G1 DNA damage checkpoint signaling, cellular response to transforming growth factor beta stimulus, negative regulation of G0 to G1 transition, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, neuron apoptotic process, neutrophil degranulation, positive regulation of apoptotic process, regulation of apoptotic process, forebrain development, cell differentiation, cardiac muscle cell apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, response to nutrient, aging, nervous system development, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, neural tube closure, kidney development, response to hypoxia, 2644 2625 3461 1121 2133 1963 1460 1568 1686 ENSG00000120875 chr8 29333064 29350668 - DUSP4 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008]. 1846 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990439, GO:0106307, GO:0106306, GO:0051019, GO:0017017, GO:0016791, GO:0008330, GO:0008330, GO:0005515, GO:0004725, GO:0004721, MAP kinase serine/threonine phosphatase activity, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, MAP kinase tyrosine/serine/threonine phosphatase activity, phosphatase activity, protein tyrosine/threonine phosphatase activity, protein tyrosine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0070373, GO:0035970, GO:0035970, GO:0035335, GO:0035335, GO:0016311, GO:0006470, GO:0001706, GO:0000188, GO:0000188, negative regulation of ERK1 and ERK2 cascade, peptidyl-threonine dephosphorylation, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, dephosphorylation, protein dephosphorylation, endoderm formation, inactivation of MAPK activity, inactivation of MAPK activity, 68 33 58 186 29 72 249 52 32 ENSG00000120885 chr8 27596917 27615031 - CLU protein_coding The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]. 1191 GO:0099020, GO:0097440, GO:0097418, GO:0072562, GO:0071944, GO:0070062, GO:0062023, GO:0062023, GO:0048471, GO:0045202, GO:0043231, GO:0042583, GO:0034366, GO:0032991, GO:0031093, GO:0016020, GO:0009986, GO:0005856, GO:0005829, GO:0005794, GO:0005743, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, perinuclear endoplasmic reticulum lumen, apical dendrite, neurofibrillary tangle, blood microparticle, cell periphery, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, perinuclear region of cytoplasm, synapse, intracellular membrane-bounded organelle, chromaffin granule, spherical high-density lipoprotein particle, protein-containing complex, platelet alpha granule lumen, membrane, cell surface, cytoskeleton, cytosol, Golgi apparatus, mitochondrial inner membrane, mitochondrion, cytoplasm, cytoplasm, nucleus, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0051787, GO:0051787, GO:0051787, GO:0051087, GO:0051082, GO:0050750, GO:0048156, GO:0044877, GO:0031625, GO:0016887, GO:0005515, GO:0005102, GO:0001540, GO:0001540, misfolded protein binding, misfolded protein binding, misfolded protein binding, chaperone binding, unfolded protein binding, low-density lipoprotein particle receptor binding, tau protein binding, protein-containing complex binding, ubiquitin protein ligase binding, ATPase activity, protein binding, signaling receptor binding, amyloid-beta binding, amyloid-beta binding, GO:2000060, GO:1905908, GO:1905907, GO:1905907, GO:1905895, GO:1905892, GO:1903573, GO:1902998, GO:1902949, GO:1902847, GO:1902430, GO:1902230, GO:1902004, GO:1901216, GO:1901216, GO:1901216, GO:1901214, GO:1901214, GO:1900221, GO:0090201, GO:0061741, GO:0061740, GO:0061518, GO:0061077, GO:0060548, GO:0060548, GO:0051788, GO:0051131, GO:0051092, GO:0050821, GO:0048260, GO:0048260, GO:0045429, GO:0045087, GO:0043691, GO:0043065, GO:0042981, GO:0042127, GO:0032760, GO:0032436, GO:0032436, GO:0032286, GO:0031334, GO:0031333, GO:0031333, GO:0030449, GO:0019730, GO:0017038, GO:0010628, GO:0009615, GO:0006958, GO:0006956, GO:0006629, GO:0002576, GO:0002434, GO:0001836, GO:0001774, GO:0000902, positive regulation of ubiquitin-dependent protein catabolic process, positive regulation of amyloid fibril formation, negative regulation of amyloid fibril formation, negative regulation of amyloid fibril formation, negative regulation of cellular response to tunicamycin, negative regulation of cellular response to thapsigargin, negative regulation of response to endoplasmic reticulum stress, positive regulation of neurofibrillary tangle assembly, positive regulation of tau-protein kinase activity, regulation of neuronal signal transduction, negative regulation of amyloid-beta formation, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of amyloid-beta formation, positive regulation of neuron death, positive regulation of neuron death, positive regulation of neuron death, regulation of neuron death, regulation of neuron death, regulation of amyloid-beta clearance, negative regulation of release of cytochrome c from mitochondria, chaperone-mediated protein transport involved in chaperone-mediated autophagy, protein targeting to lysosome involved in chaperone-mediated autophagy, microglial cell proliferation, chaperone-mediated protein folding, negative regulation of cell death, negative regulation of cell death, response to misfolded protein, chaperone-mediated protein complex assembly, positive regulation of NF-kappaB transcription factor activity, protein stabilization, positive regulation of receptor-mediated endocytosis, positive regulation of receptor-mediated endocytosis, positive regulation of nitric oxide biosynthetic process, innate immune response, reverse cholesterol transport, positive regulation of apoptotic process, regulation of apoptotic process, regulation of cell population proliferation, positive regulation of tumor necrosis factor production, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, central nervous system myelin maintenance, positive regulation of protein-containing complex assembly, negative regulation of protein-containing complex assembly, negative regulation of protein-containing complex assembly, regulation of complement activation, antimicrobial humoral response, protein import, positive regulation of gene expression, response to virus, complement activation, classical pathway, complement activation, lipid metabolic process, platelet degranulation, immune complex clearance, release of cytochrome c from mitochondria, microglial cell activation, cell morphogenesis, 3 5 8 10 6 18 13 11 13 ENSG00000120889 chr8 23020133 23069179 - TNFRSF10B protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009]. 8795 GO:0016021, GO:0009986, GO:0009986, GO:0005886, GO:0005886, integral component of membrane, cell surface, cell surface, plasma membrane, plasma membrane, GO:0045569, GO:0038023, GO:0005515, TRAIL binding, signaling receptor activity, protein binding, GO:1902042, GO:1902041, GO:0071260, GO:0070059, GO:0070059, GO:0050900, GO:0043123, GO:0043065, GO:0042981, GO:0042981, GO:0036462, GO:0034976, GO:0008625, GO:0007250, GO:0007166, GO:0006919, GO:0006915, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, cellular response to mechanical stimulus, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, leukocyte migration, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, regulation of apoptotic process, regulation of apoptotic process, TRAIL-activated apoptotic signaling pathway, response to endoplasmic reticulum stress, extrinsic apoptotic signaling pathway via death domain receptors, activation of NF-kappaB-inducing kinase activity, cell surface receptor signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 1250 1369 2456 714 1194 777 783 856 704 ENSG00000120896 chr8 22544986 22575788 + SORBS3 protein_coding This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 10174 GO:0005925, GO:0005925, GO:0005856, GO:0005829, GO:0005634, focal adhesion, focal adhesion, cytoskeleton, cytosol, nucleus, GO:0017166, GO:0008134, GO:0005515, GO:0005200, vinculin binding, transcription factor binding, protein binding, structural constituent of cytoskeleton, GO:0051496, GO:0051495, GO:0043410, GO:0031589, GO:0007155, GO:0007015, GO:0006936, GO:0000122, positive regulation of stress fiber assembly, positive regulation of cytoskeleton organization, positive regulation of MAPK cascade, cell-substrate adhesion, cell adhesion, actin filament organization, muscle contraction, negative regulation of transcription by RNA polymerase II, 22 22 35 87 39 70 73 21 62 ENSG00000120899 chr8 27311482 27459391 + PTK2B protein_coding This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2185 GO:0098978, GO:0097440, GO:0048471, GO:0045121, GO:0044297, GO:0043197, GO:0043025, GO:0031234, GO:0030426, GO:0030425, GO:0030027, GO:0017146, GO:0014069, GO:0014069, GO:0005938, GO:0005925, GO:0005925, GO:0005856, GO:0005829, GO:0005737, GO:0005634, glutamatergic synapse, apical dendrite, perinuclear region of cytoplasm, membrane raft, cell body, dendritic spine, neuronal cell body, extrinsic component of cytoplasmic side of plasma membrane, growth cone, dendrite, lamellipodium, NMDA selective glutamate receptor complex, postsynaptic density, postsynaptic density, cell cortex, focal adhesion, focal adhesion, cytoskeleton, cytosol, cytoplasm, nucleus, GO:0044877, GO:0043423, GO:0031625, GO:0008022, GO:0005524, GO:0005515, GO:0005102, GO:0004972, GO:0004715, GO:0004715, GO:0004713, GO:0004683, protein-containing complex binding, 3-phosphoinositide-dependent protein kinase binding, ubiquitin protein ligase binding, protein C-terminus binding, ATP binding, protein binding, signaling receptor binding, NMDA glutamate receptor activity, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, calmodulin-dependent protein kinase activity, GO:2000573, GO:2000538, GO:2000463, GO:2000310, GO:2000249, GO:2000114, GO:2000060, GO:2000058, GO:0090630, GO:0086100, GO:0071498, GO:0071300, GO:0070374, GO:0070098, GO:0065003, GO:0060292, GO:0060291, GO:0051968, GO:0051592, GO:0051591, GO:0051279, GO:0051000, GO:0050848, GO:0050731, GO:0048167, GO:0048041, GO:0048010, GO:0048010, GO:0046777, GO:0046330, GO:0045860, GO:0045766, GO:0045727, GO:0045638, GO:0045471, GO:0045453, GO:0045429, GO:0045087, GO:0043552, GO:0043534, GO:0043524, GO:0043507, GO:0043267, GO:0043149, GO:0043066, GO:0042976, GO:0042542, GO:0042493, GO:0042220, GO:0042127, GO:0038110, GO:0038083, GO:0038083, GO:0038083, GO:0035902, GO:0035235, GO:0033209, GO:0032960, GO:0031175, GO:0030838, GO:0030502, GO:0030335, GO:0030307, GO:0030155, GO:0030155, GO:0030154, GO:0018108, GO:0014009, GO:0010976, GO:0010758, GO:0010752, GO:0010656, GO:0010595, GO:0010226, GO:0009749, GO:0009725, GO:0009612, GO:0008360, GO:0008285, GO:0008284, GO:0007229, GO:0007204, GO:0007173, GO:0007172, GO:0007169, GO:0007166, GO:0007165, GO:0006970, GO:0006968, GO:0006915, GO:0006468, GO:0002315, GO:0002250, GO:0002040, GO:0001954, GO:0001666, GO:0001556, GO:0001525, GO:0000165, positive regulation of DNA biosynthetic process, positive regulation of B cell chemotaxis, positive regulation of excitatory postsynaptic potential, regulation of NMDA receptor activity, regulation of actin cytoskeleton reorganization, regulation of establishment of cell polarity, positive regulation of ubiquitin-dependent protein catabolic process, regulation of ubiquitin-dependent protein catabolic process, activation of GTPase activity, endothelin receptor signaling pathway, cellular response to fluid shear stress, cellular response to retinoic acid, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, protein-containing complex assembly, long-term synaptic depression, long-term synaptic potentiation, positive regulation of synaptic transmission, glutamatergic, response to calcium ion, response to cAMP, regulation of release of sequestered calcium ion into cytosol, positive regulation of nitric-oxide synthase activity, regulation of calcium-mediated signaling, positive regulation of peptidyl-tyrosine phosphorylation, regulation of synaptic plasticity, focal adhesion assembly, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, positive regulation of JNK cascade, positive regulation of protein kinase activity, positive regulation of angiogenesis, positive regulation of translation, negative regulation of myeloid cell differentiation, response to ethanol, bone resorption, positive regulation of nitric oxide biosynthetic process, innate immune response, positive regulation of phosphatidylinositol 3-kinase activity, blood vessel endothelial cell migration, negative regulation of neuron apoptotic process, positive regulation of JUN kinase activity, negative regulation of potassium ion transport, stress fiber assembly, negative regulation of apoptotic process, activation of Janus kinase activity, response to hydrogen peroxide, response to drug, response to cocaine, regulation of cell population proliferation, interleukin-2-mediated signaling pathway, peptidyl-tyrosine autophosphorylation, peptidyl-tyrosine autophosphorylation, peptidyl-tyrosine autophosphorylation, response to immobilization stress, ionotropic glutamate receptor signaling pathway, tumor necrosis factor-mediated signaling pathway, regulation of inositol trisphosphate biosynthetic process, neuron projection development, positive regulation of actin filament polymerization, negative regulation of bone mineralization, positive regulation of cell migration, positive regulation of cell growth, regulation of cell adhesion, regulation of cell adhesion, cell differentiation, peptidyl-tyrosine phosphorylation, glial cell proliferation, positive regulation of neuron projection development, regulation of macrophage chemotaxis, regulation of cGMP-mediated signaling, negative regulation of muscle cell apoptotic process, positive regulation of endothelial cell migration, response to lithium ion, response to glucose, response to hormone, response to mechanical stimulus, regulation of cell shape, negative regulation of cell population proliferation, positive regulation of cell population proliferation, integrin-mediated signaling pathway, positive regulation of cytosolic calcium ion concentration, epidermal growth factor receptor signaling pathway, signal complex assembly, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, signal transduction, response to osmotic stress, cellular defense response, apoptotic process, protein phosphorylation, marginal zone B cell differentiation, adaptive immune response, sprouting angiogenesis, positive regulation of cell-matrix adhesion, response to hypoxia, oocyte maturation, angiogenesis, MAPK cascade, 2527 3215 4263 2184 3744 3812 2573 2719 3262 ENSG00000120903 chr8 27459761 27479883 - CHRNA2 protein_coding Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]. 1135 GO:0045211, GO:0045202, GO:0043005, GO:0016021, GO:0005892, GO:0005887, GO:0005886, postsynaptic membrane, synapse, neuron projection, integral component of membrane, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, GO:0044877, GO:0042166, GO:0030594, GO:0022848, GO:0015464, GO:0008144, protein-containing complex binding, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, drug binding, GO:0060079, GO:0050877, GO:0042391, GO:0035094, GO:0034220, GO:0007271, GO:0007268, GO:0007165, GO:0007165, GO:0006811, excitatory postsynaptic potential, nervous system process, regulation of membrane potential, response to nicotine, ion transmembrane transport, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, signal transduction, ion transport, 1 1 3 0 10 3 3 2 0 ENSG00000120907 chr8 26748150 26867273 - ADRA1A protein_coding Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]. 148 GO:0031965, GO:0030315, GO:0030018, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005634, nuclear membrane, T-tubule, Z disc, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0046982, GO:0005515, GO:0004937, GO:0004937, GO:0004937, GO:0004937, GO:0004930, protein heterodimerization activity, protein binding, alpha1-adrenergic receptor activity, alpha1-adrenergic receptor activity, alpha1-adrenergic receptor activity, alpha1-adrenergic receptor activity, G protein-coupled receptor activity, GO:1903997, GO:0150099, GO:0097195, GO:0090037, GO:0071880, GO:0070374, GO:0061049, GO:0060452, GO:0060402, GO:0060073, GO:0045987, GO:0045907, GO:0045907, GO:0045760, GO:0043410, GO:0043410, GO:0042493, GO:0035556, GO:0035024, GO:0032230, GO:0010613, GO:0010507, GO:0009725, GO:0008285, GO:0007568, GO:0007512, GO:0007267, GO:0007204, GO:0007204, GO:0007202, GO:0007200, GO:0007186, GO:0007165, GO:0006939, GO:0006915, GO:0003084, GO:0001997, GO:0001996, GO:0001994, GO:0001985, positive regulation of non-membrane spanning protein tyrosine kinase activity, neuron-glial cell signaling, pilomotor reflex, positive regulation of protein kinase C signaling, adenylate cyclase-activating adrenergic receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, cell growth involved in cardiac muscle cell development, positive regulation of cardiac muscle contraction, calcium ion transport into cytosol, micturition, positive regulation of smooth muscle contraction, positive regulation of vasoconstriction, positive regulation of vasoconstriction, positive regulation of action potential, positive regulation of MAPK cascade, positive regulation of MAPK cascade, response to drug, intracellular signal transduction, negative regulation of Rho protein signal transduction, positive regulation of synaptic transmission, GABAergic, positive regulation of cardiac muscle hypertrophy, negative regulation of autophagy, response to hormone, negative regulation of cell population proliferation, aging, adult heart development, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, smooth muscle contraction, apoptotic process, positive regulation of systemic arterial blood pressure, positive regulation of the force of heart contraction by epinephrine-norepinephrine, positive regulation of heart rate by epinephrine-norepinephrine, norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure, negative regulation of heart rate involved in baroreceptor response to increased systemic arterial blood pressure, 0 0 0 0 0 0 0 0 0 ENSG00000120910 chr8 22440819 22541142 + PPP3CC protein_coding Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 5533 GO:0099523, GO:0098978, GO:0005955, GO:0005829, GO:0005739, GO:0005737, GO:0005737, presynaptic cytosol, glutamatergic synapse, calcineurin complex, cytosol, mitochondrion, cytoplasm, cytoplasm, GO:0106307, GO:0106306, GO:0046872, GO:0033192, GO:0033192, GO:0005516, GO:0005515, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, calmodulin-dependent protein phosphatase activity, calmodulin-dependent protein phosphatase activity, calmodulin binding, protein binding, GO:1900740, GO:1900244, GO:0097720, GO:0033173, GO:0007420, GO:0006470, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, positive regulation of synaptic vesicle endocytosis, calcineurin-mediated signaling, calcineurin-NFAT signaling cascade, brain development, protein dephosphorylation, 41 36 67 118 52 190 107 42 111 ENSG00000120913 chr8 22578279 22598025 + PDLIM2 protein_coding This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]. 64236 GO:0031941, GO:0030018, GO:0005912, GO:0005634, GO:0001725, filamentous actin, Z disc, adherens junction, nucleus, stress fiber, GO:0051371, GO:0046872, GO:0005515, GO:0003779, muscle alpha-actinin binding, metal ion binding, protein binding, actin binding, GO:0061061, GO:0030036, GO:0007507, muscle structure development, actin cytoskeleton organization, heart development, 1203 1015 1424 649 1003 955 845 770 856 ENSG00000120915 chr8 27490779 27545564 + EPHX2 protein_coding This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]. 2053 GO:0070062, GO:0005829, GO:0005829, GO:0005782, GO:0005777, GO:0005777, extracellular exosome, cytosol, cytosol, peroxisomal matrix, peroxisome, peroxisome, GO:0052642, GO:0042803, GO:0042577, GO:0042577, GO:0033885, GO:0016791, GO:0016787, GO:0015643, GO:0004301, GO:0000287, GO:0000287, lysophosphatidic acid phosphatase activity, protein homodimerization activity, lipid phosphatase activity, lipid phosphatase activity, 10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity, phosphatase activity, hydrolase activity, toxic substance binding, epoxide hydrolase activity, magnesium ion binding, magnesium ion binding, GO:0097176, GO:0090181, GO:0046839, GO:0046839, GO:0046272, GO:0042759, GO:0042632, GO:0042632, GO:0019373, GO:0016311, GO:0010628, GO:0009636, GO:0006625, epoxide metabolic process, regulation of cholesterol metabolic process, phospholipid dephosphorylation, phospholipid dephosphorylation, stilbene catabolic process, long-chain fatty acid biosynthetic process, cholesterol homeostasis, cholesterol homeostasis, epoxygenase P450 pathway, dephosphorylation, positive regulation of gene expression, response to toxic substance, protein targeting to peroxisome, 17 8 26 62 10 48 32 4 26 ENSG00000120925 chr8 42849637 42897290 - RNF170 protein_coding This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]. 81790 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0016567, protein ubiquitination, 17 29 38 43 47 51 52 34 62 ENSG00000120937 chr1 11857464 11858931 - NPPB protein_coding This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The presence of myocardial injury is a significant predictor of mortality in hospitalized coronavirus disease 2019 (COVID-19) patients, and there is evidence of increased levels of natriuretic peptide B in hospitalized non-survivor COVID-19 patients. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Aug 2020]. 4879 GO:0032991, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, protein-containing complex, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0051427, GO:0051427, GO:0008613, GO:0005515, GO:0005179, GO:0005179, GO:0005102, GO:0005102, hormone receptor binding, hormone receptor binding, diuretic hormone activity, protein binding, hormone activity, hormone activity, signaling receptor binding, signaling receptor binding, GO:0097746, GO:0043114, GO:0035815, GO:0035810, GO:0030308, GO:0019934, GO:0016525, GO:0008217, GO:0007589, GO:0007218, GO:0007168, GO:0007168, GO:0007166, GO:0006457, GO:0006182, GO:0006182, GO:0003085, blood vessel diameter maintenance, regulation of vascular permeability, positive regulation of renal sodium excretion, positive regulation of urine volume, negative regulation of cell growth, cGMP-mediated signaling, negative regulation of angiogenesis, regulation of blood pressure, body fluid secretion, neuropeptide signaling pathway, receptor guanylyl cyclase signaling pathway, receptor guanylyl cyclase signaling pathway, cell surface receptor signaling pathway, protein folding, cGMP biosynthetic process, cGMP biosynthetic process, negative regulation of systemic arterial blood pressure, 0 0 0 0 0 0 0 0 0 ENSG00000120942 chr1 11273206 11296049 + UBIAD1 protein_coding This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]. 29914 GO:0031966, GO:0030173, GO:0030173, GO:0016020, GO:0005789, GO:0005783, GO:0005783, GO:0005737, GO:0005634, mitochondrial membrane, integral component of Golgi membrane, integral component of Golgi membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, nucleus, GO:0016209, GO:0005515, GO:0004659, GO:0004659, GO:0004659, antioxidant activity, protein binding, prenyltransferase activity, prenyltransferase activity, prenyltransferase activity, GO:0098869, GO:0042373, GO:0042371, GO:0042371, GO:0042371, GO:0032194, GO:0009234, GO:0009234, GO:0009234, GO:0006744, cellular oxidant detoxification, vitamin K metabolic process, vitamin K biosynthetic process, vitamin K biosynthetic process, vitamin K biosynthetic process, ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate, menaquinone biosynthetic process, menaquinone biosynthetic process, menaquinone biosynthetic process, ubiquinone biosynthetic process, 27 24 49 53 29 60 40 42 33 ENSG00000120948 chr1 11012344 11026420 + TARDBP protein_coding HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]. 23435 GO:0035061, GO:0016607, GO:0010494, GO:0005726, GO:0005654, GO:0005654, GO:0005634, GO:0000785, interchromatin granule, nuclear speck, cytoplasmic stress granule, perichromatin fibrils, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0097157, GO:0042802, GO:0005515, GO:0003730, GO:0003723, GO:0003723, GO:0003723, GO:0003723, GO:0003690, GO:0000978, pre-mRNA intronic binding, identical protein binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA binding, RNA binding, RNA binding, double-stranded DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071765, GO:0070935, GO:0061158, GO:0051726, GO:0048511, GO:0043922, GO:0042981, GO:0042752, GO:0042307, GO:0034976, GO:0032024, GO:0031647, GO:0010629, GO:0010468, GO:0008380, GO:0006397, GO:0001933, nuclear inner membrane organization, 3'-UTR-mediated mRNA stabilization, 3'-UTR-mediated mRNA destabilization, regulation of cell cycle, rhythmic process, negative regulation by host of viral transcription, regulation of apoptotic process, regulation of circadian rhythm, positive regulation of protein import into nucleus, response to endoplasmic reticulum stress, positive regulation of insulin secretion, regulation of protein stability, negative regulation of gene expression, regulation of gene expression, RNA splicing, mRNA processing, negative regulation of protein phosphorylation, 431 349 531 284 305 317 296 258 338 ENSG00000120949 chr1 12063377 12144207 + TNFRSF8 protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 943 GO:0070062, GO:0016021, GO:0005886, GO:0005886, GO:0005737, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, GO:0004888, transmembrane signaling receptor activity, GO:0071260, GO:0043065, GO:0033209, GO:0032760, GO:0032759, GO:0008285, GO:0007165, cellular response to mechanical stimulus, positive regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of TRAIL production, negative regulation of cell population proliferation, signal transduction, 132 222 169 51 204 99 91 158 68 ENSG00000120952 chr1 12857086 12861909 + PRAMEF2 protein_coding 65122 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000120963 chr8 101177878 101206193 - ZNF706 protein_coding 51123 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, metal ion binding, GO:1902455, GO:0045892, GO:0006417, negative regulation of stem cell population maintenance, negative regulation of transcription, DNA-templated, regulation of translation, 90 99 143 189 90 160 129 99 120 ENSG00000120992 chr8 54046367 54102017 - LYPLA1 protein_coding This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [provided by RefSeq, Jul 2013]. 10434 GO:0070062, GO:0031965, GO:0005886, GO:0005829, GO:0005783, GO:0005737, GO:0005737, extracellular exosome, nuclear membrane, plasma membrane, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, GO:0052689, GO:0016298, GO:0008474, GO:0008474, GO:0008474, GO:0005515, GO:0004622, GO:0004620, carboxylic ester hydrolase activity, lipase activity, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, protein binding, lysophospholipase activity, phospholipase activity, GO:0050999, GO:0042997, GO:0006631, GO:0002084, GO:0002084, GO:0002084, regulation of nitric-oxide synthase activity, negative regulation of Golgi to plasma membrane protein transport, fatty acid metabolic process, protein depalmitoylation, protein depalmitoylation, protein depalmitoylation, 296 299 343 133 232 206 162 211 183 ENSG00000121005 chr8 74984515 75034558 + CRISPLD1 protein_coding 83690 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0003674, molecular_function, GO:0060325, face morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000121022 chr8 67043079 67083783 - COPS5 protein_coding The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]. 10987 GO:0048471, GO:0008180, GO:0008180, GO:0008021, GO:0005852, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, perinuclear region of cytoplasm, COP9 signalosome, COP9 signalosome, synaptic vesicle, eukaryotic translation initiation factor 3 complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0070122, GO:0046872, GO:0035718, GO:0019899, GO:0019784, GO:0019784, GO:0008237, GO:0008237, GO:0005515, GO:0004843, GO:0004222, GO:0003743, GO:0003713, isopeptidase activity, metal ion binding, macrophage migration inhibitory factor binding, enzyme binding, NEDD8-specific protease activity, NEDD8-specific protease activity, metallopeptidase activity, metallopeptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, metalloendopeptidase activity, translation initiation factor activity, transcription coactivator activity, GO:1990182, GO:1903894, GO:0051726, GO:0051091, GO:0046328, GO:0045944, GO:0043687, GO:0043066, GO:0016579, GO:0006413, GO:0006412, GO:0006283, GO:0000715, GO:0000338, GO:0000338, GO:0000338, exosomal secretion, regulation of IRE1-mediated unfolded protein response, regulation of cell cycle, positive regulation of DNA-binding transcription factor activity, regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, post-translational protein modification, negative regulation of apoptotic process, protein deubiquitination, translational initiation, translation, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA damage recognition, protein deneddylation, protein deneddylation, protein deneddylation, 330 284 331 176 205 169 153 160 153 ENSG00000121039 chr8 73294612 73325281 + RDH10 protein_coding This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]. 157506 GO:0016021, GO:0005811, GO:0005789, GO:0005737, GO:0005634, integral component of membrane, lipid droplet, endoplasmic reticulum membrane, cytoplasm, nucleus, GO:0052650, GO:0016616, GO:0005515, GO:0004745, NADP-retinol dehydrogenase activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, retinol dehydrogenase activity, GO:1900054, GO:0060449, GO:0060431, GO:0055114, GO:0048703, GO:0043584, GO:0043583, GO:0042574, GO:0042572, GO:0042572, GO:0035115, GO:0031076, GO:0014032, GO:0008406, GO:0007601, GO:0002138, GO:0001701, GO:0001656, GO:0001523, positive regulation of retinoic acid biosynthetic process, bud elongation involved in lung branching, primary lung bud formation, oxidation-reduction process, embryonic viscerocranium morphogenesis, nose development, ear development, retinal metabolic process, retinol metabolic process, retinol metabolic process, embryonic forelimb morphogenesis, embryonic camera-type eye development, neural crest cell development, gonad development, visual perception, retinoic acid biosynthetic process, in utero embryonic development, metanephros development, retinoid metabolic process, 6 13 22 22 27 60 24 21 16 ENSG00000121053 chr17 58192737 58205174 + EPX protein_coding This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]. 8288 GO:0070062, GO:0034774, GO:0005615, GO:0005576, extracellular exosome, secretory granule lumen, extracellular space, extracellular region, GO:0046872, GO:0020037, GO:0004601, metal ion binding, heme binding, peroxidase activity, GO:0098869, GO:0072677, GO:0055114, GO:0043312, GO:0042744, GO:0042742, GO:0032753, GO:0032714, GO:0032693, GO:0006979, GO:0002215, cellular oxidant detoxification, eosinophil migration, oxidation-reduction process, neutrophil degranulation, hydrogen peroxide catabolic process, defense response to bacterium, positive regulation of interleukin-4 production, negative regulation of interleukin-5 production, negative regulation of interleukin-10 production, response to oxidative stress, defense response to nematode, 0 0 2 0 0 0 0 0 0 ENSG00000121057 chr17 57085092 57121349 + AKAP1 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]. 8165 GO:0016021, GO:0016020, GO:0005829, GO:0005741, GO:0005739, integral component of membrane, membrane, cytosol, mitochondrial outer membrane, mitochondrion, GO:0034237, GO:0005515, GO:0003723, protein kinase A regulatory subunit binding, protein binding, RNA binding, GO:0140374, GO:0010738, GO:0007596, antiviral innate immune response, regulation of protein kinase A signaling, blood coagulation, 15 20 59 49 1 57 50 9 34 ENSG00000121058 chr17 56938187 56961054 - COIL protein_coding The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]. 8161 GO:0016604, GO:0016020, GO:0015030, GO:0015030, GO:0005730, GO:0005654, GO:0005634, GO:0001650, nuclear body, membrane, Cajal body, Cajal body, nucleolus, nucleoplasm, nucleus, fibrillar center, GO:0042802, GO:0030620, GO:0030619, GO:0008022, GO:0005515, identical protein binding, U2 snRNA binding, U1 snRNA binding, protein C-terminus binding, protein binding, GO:0000387, spliceosomal snRNP assembly, 69 64 72 50 51 40 54 41 26 ENSG00000121060 chr17 56836387 56914080 - TRIM25 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008]. 7706 GO:0016604, GO:0010494, GO:0005829, GO:0005829, GO:0005654, GO:0005654, nuclear body, cytoplasmic stress granule, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0061630, GO:0046872, GO:0045296, GO:0039552, GO:0016874, GO:0005515, GO:0003723, ubiquitin protein ligase activity, metal ion binding, cadherin binding, RIG-I binding, ligase activity, protein binding, RNA binding, GO:1990830, GO:1902187, GO:1902186, GO:0060333, GO:0051092, GO:0051091, GO:0046597, GO:0046596, GO:0045087, GO:0045087, GO:0043627, GO:0043123, GO:0039529, GO:0033280, GO:0032880, GO:0032480, GO:0030433, GO:0019985, GO:0016032, GO:0006513, GO:0006511, cellular response to leukemia inhibitory factor, negative regulation of viral release from host cell, regulation of viral release from host cell, interferon-gamma-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, negative regulation of viral entry into host cell, regulation of viral entry into host cell, innate immune response, innate immune response, response to estrogen, positive regulation of I-kappaB kinase/NF-kappaB signaling, RIG-I signaling pathway, response to vitamin D, regulation of protein localization, negative regulation of type I interferon production, ubiquitin-dependent ERAD pathway, translesion synthesis, viral process, protein monoubiquitination, ubiquitin-dependent protein catabolic process, 3994 3818 6547 3463 5700 5639 4236 4051 4588 ENSG00000121064 chr17 56978105 57006768 + SCPEP1 protein_coding 59342 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0004185, GO:0004185, serine-type carboxypeptidase activity, serine-type carboxypeptidase activity, GO:0097755, GO:0045776, GO:0042573, GO:0006508, positive regulation of blood vessel diameter, negative regulation of blood pressure, retinoic acid metabolic process, proteolysis, 234 326 447 84 182 190 111 164 155 ENSG00000121067 chr17 49598884 49678234 - SPOP protein_coding This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 8405 GO:0031463, GO:0016607, GO:0005737, GO:0005654, GO:0005634, GO:0005634, Cul3-RING ubiquitin ligase complex, nuclear speck, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0031625, GO:0031625, GO:0005515, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, GO:0043161, GO:0043161, GO:0030162, GO:0000209, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of proteolysis, protein polyubiquitination, 739 748 863 690 1060 859 665 733 583 ENSG00000121068 chr17 61399896 61409466 + TBX2 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]. 6909 GO:0005667, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901211, GO:1901208, GO:0090398, GO:0072105, GO:0060596, GO:0060560, GO:0060465, GO:0060045, GO:0060021, GO:0051145, GO:0048738, GO:0048596, GO:0045892, GO:0042733, GO:0036302, GO:0035909, GO:0035050, GO:0008284, GO:0008016, GO:0007569, GO:0007521, GO:0007219, GO:0006357, GO:0003256, GO:0003203, GO:0003151, GO:0003148, GO:0001947, GO:0001708, GO:0000122, negative regulation of cardiac chamber formation, negative regulation of heart looping, cellular senescence, ureteric peristalsis, mammary placode formation, developmental growth involved in morphogenesis, pharynx development, positive regulation of cardiac muscle cell proliferation, roof of mouth development, smooth muscle cell differentiation, cardiac muscle tissue development, embryonic camera-type eye morphogenesis, negative regulation of transcription, DNA-templated, embryonic digit morphogenesis, atrioventricular canal development, aorta morphogenesis, embryonic heart tube development, positive regulation of cell population proliferation, regulation of heart contraction, cell aging, muscle cell fate determination, Notch signaling pathway, regulation of transcription by RNA polymerase II, regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation, endocardial cushion morphogenesis, outflow tract morphogenesis, outflow tract septum morphogenesis, heart looping, cell fate specification, negative regulation of transcription by RNA polymerase II, 1 1 0 1 0 0 0 0 0 ENSG00000121073 chr17 49700934 49709014 - SLC35B1 protein_coding This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 10237 GO:0043231, GO:0030176, GO:0030173, intracellular membrane-bounded organelle, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, GO:0022857, GO:0005515, GO:0005460, GO:0005459, transmembrane transporter activity, protein binding, UDP-glucose transmembrane transporter activity, UDP-galactose transmembrane transporter activity, GO:0072334, GO:0015786, GO:0008643, UDP-galactose transmembrane transport, UDP-glucose transmembrane transport, carbohydrate transport, 95 80 77 118 126 125 95 101 121 ENSG00000121075 chr17 61452404 61485110 + TBX4 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]. 9496 GO:0000785, GO:0000785, chromatin, chromatin, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990401, GO:0048705, GO:0035116, GO:0035108, GO:0030326, GO:0030324, GO:0007275, GO:0006357, GO:0006355, GO:0002009, GO:0001708, GO:0001525, embryonic lung development, skeletal system morphogenesis, embryonic hindlimb morphogenesis, limb morphogenesis, embryonic limb morphogenesis, lung development, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, morphogenesis of an epithelium, cell fate specification, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000121089 chr4 164943290 164943937 + NACA3P processed_pseudogene 1 0 1 1 0 0 1 0 1 ENSG00000121101 chr17 58556678 58692055 - TEX14 protein_coding The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]. 56155 GO:0070062, GO:0045171, GO:0045171, GO:0030496, GO:0030496, GO:0005737, GO:0000777, GO:0000776, GO:0000776, extracellular exosome, intercellular bridge, intercellular bridge, midbody, midbody, cytoplasm, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0019901, GO:0005524, GO:0005515, GO:0004672, protein kinase binding, ATP binding, protein binding, protein kinase activity, GO:1990830, GO:0051306, GO:0051306, GO:0051301, GO:0043063, GO:0043063, GO:0032466, GO:0032091, GO:0008608, GO:0008608, GO:0007140, GO:0007140, GO:0007094, GO:0007094, GO:0006468, cellular response to leukemia inhibitory factor, mitotic sister chromatid separation, mitotic sister chromatid separation, cell division, intercellular bridge organization, intercellular bridge organization, negative regulation of cytokinesis, negative regulation of protein binding, attachment of spindle microtubules to kinetochore, attachment of spindle microtubules to kinetochore, male meiotic nuclear division, male meiotic nuclear division, mitotic spindle assembly checkpoint, mitotic spindle assembly checkpoint, protein phosphorylation, 0 3 1 6 2 3 0 1 0 ENSG00000121104 chr17 49710332 49789180 - FAM117A protein_coding 81558 354 336 476 280 308 495 312 295 329 ENSG00000121152 chr2 96335787 96373845 + NCAPH protein_coding This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]. 23397 GO:0016020, GO:0005829, GO:0005829, GO:0005654, GO:0000796, membrane, cytosol, cytosol, nucleoplasm, condensin complex, GO:0072587, GO:0044547, GO:0005515, GO:0003682, DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activator activity, DNA topoisomerase binding, protein binding, chromatin binding, GO:2000373, GO:0051309, GO:0051301, GO:0010032, GO:0007076, GO:0007076, GO:0007076, positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity, female meiosis chromosome separation, cell division, meiotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, 6 6 23 0 2 4 7 2 12 ENSG00000121207 chr4 154626945 154753118 + LRAT protein_coding The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. 9227 GO:0048471, GO:0016021, GO:0005791, GO:0005789, GO:0005783, GO:0005771, perinuclear region of cytoplasm, integral component of membrane, rough endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum, multivesicular body, GO:0102279, GO:0047173, GO:0047173, GO:0019841, GO:0016746, GO:0016416, GO:0005515, GO:0001972, lecithin:11-cis retinol acyltransferase activity, phosphatidylcholine-retinol O-acyltransferase activity, phosphatidylcholine-retinol O-acyltransferase activity, retinol binding, transferase activity, transferring acyl groups, O-palmitoyltransferase activity, protein binding, retinoic acid binding, GO:1990830, GO:0042572, GO:0042572, GO:0033189, GO:0032526, GO:0032370, GO:0009617, GO:0007601, GO:0006776, GO:0001523, cellular response to leukemia inhibitory factor, retinol metabolic process, retinol metabolic process, response to vitamin A, response to retinoic acid, positive regulation of lipid transport, response to bacterium, visual perception, vitamin A metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000121210 chr4 153466346 153636711 + TMEM131L protein_coding 23240 GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005783, GO:0005737, integral component of membrane, membrane, plasma membrane, plasma membrane, endoplasmic reticulum, cytoplasm, GO:0090090, GO:0090090, GO:0033088, GO:0016055, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of immature T cell proliferation in thymus, Wnt signaling pathway, 832 916 922 637 804 733 674 658 606 ENSG00000121211 chr4 153344649 153415118 + MND1 protein_coding The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]. 84057 GO:0005634, GO:0005634, nucleus, nucleus, GO:0003690, double-stranded DNA binding, GO:0007131, reciprocal meiotic recombination, 0 1 1 2 0 0 0 0 0 ENSG00000121236 chr11 5596109 5612958 + TRIM6 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]. 117854 GO:0005829, GO:0005737, GO:0005737, GO:0005654, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:1990782, GO:0061630, GO:0061630, GO:0042803, GO:0042802, GO:0030674, GO:0019901, GO:0019901, GO:0008270, GO:0008134, GO:0005515, protein tyrosine kinase binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein homodimerization activity, identical protein binding, protein-macromolecule adaptor activity, protein kinase binding, protein kinase binding, zinc ion binding, transcription factor binding, protein binding, GO:2000737, GO:2000679, GO:1901222, GO:0098586, GO:0060340, GO:0051092, GO:0046596, GO:0045892, GO:0045087, GO:0045071, GO:0043123, GO:0035458, GO:0033138, GO:0032880, GO:0032496, GO:0016567, GO:0016032, GO:0010994, GO:0010800, GO:0010629, GO:0010508, GO:0010468, GO:0002720, GO:0002230, GO:0000209, negative regulation of stem cell differentiation, positive regulation of transcription regulatory region DNA binding, regulation of NIK/NF-kappaB signaling, cellular response to virus, positive regulation of type I interferon-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, regulation of viral entry into host cell, negative regulation of transcription, DNA-templated, innate immune response, negative regulation of viral genome replication, positive regulation of I-kappaB kinase/NF-kappaB signaling, cellular response to interferon-beta, positive regulation of peptidyl-serine phosphorylation, regulation of protein localization, response to lipopolysaccharide, protein ubiquitination, viral process, free ubiquitin chain polymerization, positive regulation of peptidyl-threonine phosphorylation, negative regulation of gene expression, positive regulation of autophagy, regulation of gene expression, positive regulation of cytokine production involved in immune response, positive regulation of defense response to virus by host, protein polyubiquitination, 13 15 14 4 12 9 14 9 7 ENSG00000121270 chr16 48166910 48247568 - ABCC11 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]. 85320 GO:0070062, GO:0030659, GO:0016020, GO:0005887, GO:0005887, GO:0005886, GO:0005774, extracellular exosome, cytoplasmic vesicle membrane, membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, vacuolar membrane, GO:0042626, GO:0016887, GO:0015216, GO:0015216, GO:0008514, GO:0008514, GO:0005524, ATPase-coupled transmembrane transporter activity, ATPase activity, purine nucleotide transmembrane transporter activity, purine nucleotide transmembrane transporter activity, organic anion transmembrane transporter activity, organic anion transmembrane transporter activity, ATP binding, GO:0055085, GO:0055085, GO:0015865, GO:0015711, GO:0015711, transmembrane transport, transmembrane transport, purine nucleotide transport, organic anion transport, organic anion transport, 8 10 16 16 4 23 6 11 13 ENSG00000121274 chr16 50152918 50235310 + TENT4B protein_coding 64282 GO:0031499, GO:0031499, GO:0005737, GO:0005730, GO:0005730, TRAMP complex, TRAMP complex, cytoplasm, nucleolus, nucleolus, GO:0070568, GO:0070034, GO:0046872, GO:0005515, GO:0004652, GO:0004652, GO:0003887, GO:0003723, GO:0003677, guanylyltransferase activity, telomerase RNA binding, metal ion binding, protein binding, polynucleotide adenylyltransferase activity, polynucleotide adenylyltransferase activity, DNA-directed DNA polymerase activity, RNA binding, DNA binding, GO:1905870, GO:0071897, GO:0071076, GO:0071050, GO:0071044, GO:0060212, GO:0051301, GO:0043630, GO:0043629, GO:0033500, GO:0032211, GO:0031123, GO:0010587, GO:0007049, GO:0006378, GO:0006364, positive regulation of 3'-UTR-mediated mRNA stabilization, DNA biosynthetic process, RNA 3' uridylation, snoRNA polyadenylation, histone mRNA catabolic process, negative regulation of nuclear-transcribed mRNA poly(A) tail shortening, cell division, ncRNA polyadenylation involved in polyadenylation-dependent ncRNA catabolic process, ncRNA polyadenylation, carbohydrate homeostasis, negative regulation of telomere maintenance via telomerase, RNA 3'-end processing, miRNA catabolic process, cell cycle, mRNA polyadenylation, rRNA processing, 263 279 355 201 272 399 201 266 300 ENSG00000121281 chr16 50246137 50318135 + ADCY7 protein_coding This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]. 113 GO:0016021, GO:0005887, GO:0005886, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0046872, GO:0005524, GO:0004016, GO:0004016, GO:0004016, metal ion binding, ATP binding, adenylate cyclase activity, adenylate cyclase activity, adenylate cyclase activity, GO:1900016, GO:0071377, GO:0071361, GO:0071285, GO:0034199, GO:0007193, GO:0007190, GO:0007189, GO:0007189, GO:0007186, GO:0006171, GO:0003091, GO:0002819, negative regulation of cytokine production involved in inflammatory response, cellular response to glucagon stimulus, cellular response to ethanol, cellular response to lithium ion, activation of protein kinase A activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cAMP biosynthetic process, renal water homeostasis, regulation of adaptive immune response, 1090 1379 1767 1046 1702 1976 1229 1248 1544 ENSG00000121289 chr19 32875925 32971991 - CEP89 protein_coding 84902 GO:0097730, GO:0097539, GO:0045202, GO:0031514, GO:0005886, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005758, GO:0000922, non-motile cilium, ciliary transition fiber, synapse, motile cilium, plasma membrane, cytosol, cytosol, centriole, centrosome, mitochondrial intermembrane space, spindle pole, GO:0005515, protein binding, GO:1905515, GO:0097711, GO:0060271, GO:0007268, GO:0007005, non-motile cilium assembly, ciliary basal body-plasma membrane docking, cilium assembly, chemical synaptic transmission, mitochondrion organization, 38 32 64 26 33 43 33 31 38 ENSG00000121297 chr19 31274945 31349547 - TSHZ3 protein_coding This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]. 57616 GO:0030426, GO:0005886, GO:0005654, GO:0005634, GO:0005634, GO:0000785, growth cone, plasma membrane, nucleoplasm, nucleus, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003682, GO:0003677, GO:0003677, GO:0000981, GO:0000981, metal ion binding, protein binding, chromatin binding, DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0060291, GO:0051968, GO:0045892, GO:0007275, GO:0006357, GO:0002087, long-term synaptic potentiation, positive regulation of synaptic transmission, glutamatergic, negative regulation of transcription, DNA-templated, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of respiratory gaseous exchange by nervous system process, 161 94 77 132 200 94 158 153 114 ENSG00000121310 chr1 52895910 52927212 - ECHDC2 protein_coding 55268 GO:0005739, mitochondrion, GO:0004300, enoyl-CoA hydratase activity, GO:0006635, fatty acid beta-oxidation, 54 46 95 159 41 193 120 29 89 ENSG00000121314 chr12 10806051 10807293 - TAS2R8 protein_coding This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. 50836 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0005515, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, protein binding, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000121316 chr12 14503661 14568349 - PLBD1 protein_coding 79887 GO:0005829, GO:0005764, GO:0005615, GO:0005576, cytosol, lysosome, extracellular space, extracellular region, GO:0004620, phospholipase activity, GO:0036152, GO:0036151, GO:0036149, GO:0009395, GO:0006644, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phospholipid catabolic process, phospholipid metabolic process, 2338 1658 2611 717 908 802 869 880 789 ENSG00000121318 chr12 10825317 10826358 - TAS2R10 protein_coding This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. 50839 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0008527, GO:0005515, GO:0004930, bitter taste receptor activity, taste receptor activity, protein binding, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000121335 chr12 11391540 11501041 - PRB2 protein_coding This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015]. 653247 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000121350 chr12 21437615 21471252 + PYROXD1 protein_coding This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]. 79912 GO:0030017, GO:0005634, sarcomere, nucleus, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, GO:0034599, oxidation-reduction process, cellular response to oxidative stress, 131 174 165 237 182 235 200 150 189 ENSG00000121351 chr12 21354959 21379978 + IAPP protein_coding This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]. 3375 GO:0043025, GO:0005615, GO:0005576, neuronal cell body, extracellular space, extracellular region, GO:0042802, GO:0005515, GO:0005179, GO:0005102, GO:0001540, identical protein binding, protein binding, hormone activity, signaling receptor binding, amyloid-beta binding, GO:1905907, GO:0097647, GO:0051897, GO:0045779, GO:0045596, GO:0044267, GO:0043410, GO:0043065, GO:0042755, GO:0031333, GO:0019233, GO:0010823, GO:0010739, GO:0007267, GO:0007204, GO:0007189, GO:0007186, GO:0007165, GO:0006915, negative regulation of amyloid fibril formation, amylin receptor signaling pathway, positive regulation of protein kinase B signaling, negative regulation of bone resorption, negative regulation of cell differentiation, cellular protein metabolic process, positive regulation of MAPK cascade, positive regulation of apoptotic process, eating behavior, negative regulation of protein-containing complex assembly, sensory perception of pain, negative regulation of mitochondrion organization, positive regulation of protein kinase A signaling, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000121361 chr12 21764955 21775581 - KCNJ8 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]. 3764 GO:0042383, GO:0031004, GO:0030016, GO:0008282, GO:0008076, GO:0005886, GO:0005886, GO:0005739, sarcolemma, potassium ion-transporting ATPase complex, myofibril, inward rectifying potassium channel, voltage-gated potassium channel complex, plasma membrane, plasma membrane, mitochondrion, GO:1902282, GO:0019829, GO:0017098, GO:0015272, GO:0015272, GO:0015272, GO:0005524, GO:0005515, GO:0005242, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, ATPase-coupled cation transmembrane transporter activity, sulfonylurea receptor binding, ATP-activated inward rectifier potassium channel activity, ATP-activated inward rectifier potassium channel activity, ATP-activated inward rectifier potassium channel activity, ATP binding, protein binding, inward rectifier potassium channel activity, GO:1990573, GO:1990573, GO:0150104, GO:0098915, GO:0098662, GO:0071805, GO:0051607, GO:0043330, GO:0034765, GO:0032496, GO:0007507, GO:0006813, GO:0001822, potassium ion import across plasma membrane, potassium ion import across plasma membrane, transport across blood-brain barrier, membrane repolarization during ventricular cardiac muscle cell action potential, inorganic cation transmembrane transport, potassium ion transmembrane transport, defense response to virus, response to exogenous dsRNA, regulation of ion transmembrane transport, response to lipopolysaccharide, heart development, potassium ion transport, kidney development, 1 7 7 0 0 0 0 0 0 ENSG00000121377 chr12 10801532 10802627 - TAS2R7 protein_coding This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. 50837 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000121380 chr12 12049844 12211084 + BCL2L14 protein_coding The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]. 79370 GO:0043229, GO:0016020, GO:0012505, GO:0005829, GO:0005829, intracellular organelle, membrane, endomembrane system, cytosol, cytosol, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:2001236, GO:0042981, GO:0006915, regulation of extrinsic apoptotic signaling pathway, regulation of apoptotic process, apoptotic process, 0 0 0 1 0 0 2 3 0 ENSG00000121381 chr12 10809094 10810168 - TAS2R9 protein_coding This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. 50835 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0033038, GO:0008527, GO:0004930, bitter taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0008150, GO:0007186, GO:0001580, biological_process, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000121388 chr13 19185225 19187349 + AL139327.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000121390 chr13 19674752 19783019 - PSPC1 protein_coding This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011]. 55269 GO:0042382, GO:0016607, GO:0016363, GO:0005737, GO:0005654, GO:0005634, GO:0001650, paraspeckles, nuclear speck, nuclear matrix, cytoplasm, nucleoplasm, nucleus, fibrillar center, GO:0070888, GO:0005515, GO:0003723, GO:0003676, GO:0000976, E-box binding, protein binding, RNA binding, nucleic acid binding, transcription regulatory region sequence-specific DNA binding, GO:0048511, GO:0045892, GO:0045087, GO:0042752, GO:0006355, GO:0002218, GO:0000398, rhythmic process, negative regulation of transcription, DNA-templated, innate immune response, regulation of circadian rhythm, regulation of transcription, DNA-templated, activation of innate immune response, mRNA splicing, via spliceosome, 465 441 540 421 457 414 390 400 330 ENSG00000121406 chr19 57527325 57557542 + ZNF549 protein_coding 256051 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 20 24 38 73 20 77 36 15 20 ENSG00000121410 chr19 58345178 58353499 - A1BG protein_coding The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]. 1 GO:1904813, GO:0072562, GO:0070062, GO:0062023, GO:0034774, GO:0031093, GO:0005615, GO:0005576, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, secretory granule lumen, platelet alpha granule lumen, extracellular space, extracellular region, extracellular region, extracellular region, GO:0003674, molecular_function, GO:0043312, GO:0008150, GO:0002576, neutrophil degranulation, biological_process, platelet degranulation, 0 0 0 0 1 1 5 0 0 ENSG00000121413 chr19 58083838 58118427 - ZSCAN18 protein_coding 65982 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 373 434 310 449 587 335 487 469 257 ENSG00000121417 chr19 57630395 57642779 + ZNF211 protein_coding This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. This protein may play a role in developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 10520 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 118 154 156 106 145 110 70 92 68 ENSG00000121440 chr3 73382433 73624940 - PDZRN3 protein_coding This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 23024 GO:0031594, GO:0005737, neuromuscular junction, cytoplasm, GO:0061630, GO:0008270, GO:0004842, ubiquitin protein ligase activity, zinc ion binding, ubiquitin-protein transferase activity, GO:0016567, GO:0016567, GO:0016567, GO:0007528, protein ubiquitination, protein ubiquitination, protein ubiquitination, neuromuscular junction development, 0 0 0 0 0 0 0 0 0 ENSG00000121446 chr1 182409192 182560599 + RGSL1 protein_coding 353299 GO:0016021, integral component of membrane, 0 3 3 0 1 4 2 2 0 ENSG00000121454 chr1 180230286 180278982 + LHX4 protein_coding This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]. 89884 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0008327, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, methyl-CpG binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0043066, GO:0030182, GO:0021526, GO:0009887, GO:0008045, GO:0006357, GO:0001890, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, neuron differentiation, medial motor column neuron differentiation, animal organ morphogenesis, motor neuron axon guidance, regulation of transcription by RNA polymerase II, placenta development, 22 27 22 44 22 40 55 14 32 ENSG00000121481 chr1 185045364 185102608 + RNF2 protein_coding Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008]. 6045 GO:0071339, GO:0035102, GO:0031519, GO:0031519, GO:0016604, GO:0005654, GO:0005654, GO:0005634, GO:0001739, GO:0000791, GO:0000151, GO:0000151, MLL1 complex, PRC1 complex, PcG protein complex, PcG protein complex, nuclear body, nucleoplasm, nucleoplasm, nucleus, sex chromatin, euchromatin, ubiquitin ligase complex, ubiquitin ligase complex, GO:0071535, GO:0061630, GO:0008270, GO:0005515, GO:0004842, GO:0003682, GO:0003682, RING-like zinc finger domain binding, ubiquitin protein ligase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, chromatin binding, chromatin binding, GO:0070317, GO:0043433, GO:0036353, GO:0035518, GO:0035518, GO:0010467, GO:0009948, GO:0007281, GO:0001702, GO:0000278, GO:0000122, negative regulation of G0 to G1 transition, negative regulation of DNA-binding transcription factor activity, histone H2A-K119 monoubiquitination, histone H2A monoubiquitination, histone H2A monoubiquitination, gene expression, anterior/posterior axis specification, germ cell development, gastrulation with mouth forming second, mitotic cell cycle, negative regulation of transcription by RNA polymerase II, 90 81 102 58 76 117 68 75 68 ENSG00000121486 chr1 185118098 185157072 - TRMT1L protein_coding This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011]. 81627 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0004809, GO:0003723, GO:0000049, metal ion binding, protein binding, tRNA (guanine-N2-)-methyltransferase activity, RNA binding, tRNA binding, GO:0007610, GO:0002940, behavior, tRNA N2-guanine methylation, 278 215 375 71 121 170 104 105 86 ENSG00000121542 chr3 123201927 123274130 + SEC22A protein_coding The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]. 26984 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, GO:0005215, protein binding, transporter activity, GO:0015031, GO:0006888, protein transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 16 12 39 33 10 35 19 12 16 ENSG00000121552 chr3 122325244 122341972 + CSTA protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]. 1475 GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005615, GO:0001533, GO:0001533, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, extracellular space, cornified envelope, cornified envelope, GO:0005515, GO:0004869, GO:0004869, GO:0002020, protein binding, cysteine-type endopeptidase inhibitor activity, cysteine-type endopeptidase inhibitor activity, protease binding, GO:0098609, GO:0070268, GO:0045861, GO:0030216, GO:0018149, GO:0010951, GO:0010466, cell-cell adhesion, cornification, negative regulation of proteolysis, keratinocyte differentiation, peptide cross-linking, negative regulation of endopeptidase activity, negative regulation of peptidase activity, 438 419 664 173 383 329 236 505 327 ENSG00000121570 chr3 109326141 109337572 - DPPA4 protein_coding This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 55211 GO:0005654, nucleoplasm, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0035019, GO:0007275, somatic stem cell population maintenance, multicellular organism development, 0 1 3 1 3 0 1 0 2 ENSG00000121577 chr3 119636457 119665324 - POPDC2 protein_coding This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]. 64091 GO:0042383, GO:0042383, GO:0016021, sarcolemma, sarcolemma, integral component of membrane, GO:0030552, GO:0003674, cAMP binding, molecular_function, GO:0051146, GO:0042391, GO:0008150, GO:0007519, GO:0007507, GO:0002027, striated muscle cell differentiation, regulation of membrane potential, biological_process, skeletal muscle tissue development, heart development, regulation of heart rate, 7 3 11 20 5 21 13 8 22 ENSG00000121578 chr3 119211732 119241103 - B4GALT4 protein_coding This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 8702 GO:0032580, GO:0016021, GO:0005794, GO:0000139, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0008378, GO:0003945, metal ion binding, galactosyltransferase activity, N-acetyllactosamine synthase activity, GO:0018146, GO:0006643, GO:0006486, GO:0005975, keratan sulfate biosynthetic process, membrane lipid metabolic process, protein glycosylation, carbohydrate metabolic process, 62 64 176 72 77 162 75 62 109 ENSG00000121579 chr3 113716460 113746300 - NAA50 protein_coding 80218 GO:0070062, GO:0031415, GO:0031415, GO:0005829, GO:0005737, GO:0005737, GO:0005634, extracellular exosome, NatA complex, NatA complex, cytosol, cytoplasm, cytoplasm, nucleus, GO:0052858, GO:0010485, GO:0008080, GO:0005515, GO:0004596, GO:0004596, peptidyl-lysine acetyltransferase activity, H4 histone acetyltransferase activity, N-acetyltransferase activity, protein binding, peptide alpha-N-acetyltransferase activity, peptide alpha-N-acetyltransferase activity, GO:0071962, GO:0043967, GO:0034087, GO:0016573, GO:0007064, GO:0006474, GO:0006474, GO:0006474, mitotic sister chromatid cohesion, centromeric, histone H4 acetylation, establishment of mitotic sister chromatid cohesion, histone acetylation, mitotic sister chromatid cohesion, N-terminal protein amino acid acetylation, N-terminal protein amino acid acetylation, N-terminal protein amino acid acetylation, 1305 1252 1693 353 685 650 397 630 554 ENSG00000121594 chr3 119524293 119559602 - CD80 protein_coding The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011]. 941 GO:0098636, GO:0016021, GO:0009986, GO:0009897, GO:0005886, protein complex involved in cell adhesion, integral component of membrane, cell surface, external side of plasma membrane, plasma membrane, GO:0015026, GO:0005515, GO:0001618, coreceptor activity, protein binding, virus receptor activity, GO:0071222, GO:0051897, GO:0050731, GO:0046718, GO:0045893, GO:0045627, GO:0042130, GO:0042102, GO:0035556, GO:0032743, GO:0032725, GO:0031295, GO:0031295, GO:0019221, GO:0009967, GO:0007166, GO:0006955, cellular response to lipopolysaccharide, positive regulation of protein kinase B signaling, positive regulation of peptidyl-tyrosine phosphorylation, viral entry into host cell, positive regulation of transcription, DNA-templated, positive regulation of T-helper 1 cell differentiation, negative regulation of T cell proliferation, positive regulation of T cell proliferation, intracellular signal transduction, positive regulation of interleukin-2 production, positive regulation of granulocyte macrophage colony-stimulating factor production, T cell costimulation, T cell costimulation, cytokine-mediated signaling pathway, positive regulation of signal transduction, cell surface receptor signaling pathway, immune response, 5 0 4 4 0 3 0 6 7 ENSG00000121621 chr11 28020620 28108308 - KIF18A protein_coding KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]. 81930 GO:1990023, GO:0061673, GO:0015630, GO:0005901, GO:0005874, GO:0005871, GO:0005829, GO:0005828, GO:0005815, GO:0005737, GO:0005634, GO:0005634, GO:0001726, GO:0000776, mitotic spindle midzone, mitotic spindle astral microtubule, microtubule cytoskeleton, caveola, microtubule, kinesin complex, cytosol, kinetochore microtubule, microtubule organizing center, cytoplasm, nucleus, nucleus, ruffle, kinetochore, GO:0070463, GO:0051010, GO:0016887, GO:0008574, GO:0008574, GO:0008017, GO:0008017, GO:0005524, GO:0005515, GO:0003779, GO:0003777, tubulin-dependent ATPase activity, microtubule plus-end binding, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, microtubule binding, ATP binding, protein binding, actin binding, microtubule motor activity, GO:0072520, GO:0071392, GO:0070507, GO:0019886, GO:0015031, GO:0007140, GO:0007080, GO:0007019, GO:0007019, GO:0007018, GO:0007018, GO:0006890, GO:0000070, seminiferous tubule development, cellular response to estradiol stimulus, regulation of microtubule cytoskeleton organization, antigen processing and presentation of exogenous peptide antigen via MHC class II, protein transport, male meiotic nuclear division, mitotic metaphase plate congression, microtubule depolymerization, microtubule depolymerization, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, mitotic sister chromatid segregation, 10 6 30 2 2 3 2 3 1 ENSG00000121634 chr1 147907956 147909257 + GJA8 protein_coding This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]. 2703 GO:0005922, GO:0005922, GO:0005887, connexin complex, connexin complex, integral component of plasma membrane, GO:0042802, GO:0005515, GO:0005243, GO:0005243, identical protein binding, protein binding, gap junction channel activity, gap junction channel activity, GO:1990349, GO:0055085, GO:0007267, GO:0002088, gap junction-mediated intercellular transport, transmembrane transport, cell-cell signaling, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000121644 chr1 244652935 244709033 + DESI2 protein_coding 51029 GO:0005737, cytoplasm, GO:1990380, GO:0101005, GO:0061578, GO:0005515, GO:0004843, Lys48-specific deubiquitinase activity, ubiquitinyl hydrolase activity, Lys63-specific deubiquitinase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0071108, GO:0070646, GO:0070536, GO:0016579, protein K48-linked deubiquitination, protein modification by small protein removal, protein K63-linked deubiquitination, protein deubiquitination, 203 214 235 146 186 217 152 144 180 ENSG00000121653 chr11 45885651 45906465 + MAPK8IP1 protein_coding This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]. 9479 GO:0048471, GO:0045202, GO:0044302, GO:0044297, GO:0044295, GO:0044294, GO:0031966, GO:0005886, GO:0005829, GO:0005789, GO:0005737, GO:0005737, GO:0005634, perinuclear region of cytoplasm, synapse, dentate gyrus mossy fiber, cell body, axonal growth cone, dendritic growth cone, mitochondrial membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, cytoplasm, nucleus, GO:0031435, GO:0031434, GO:0019894, GO:0008432, GO:0005515, GO:0005078, GO:0004860, mitogen-activated protein kinase kinase kinase binding, mitogen-activated protein kinase kinase binding, kinesin binding, JUN kinase binding, protein binding, MAP-kinase scaffold activity, protein kinase inhibitor activity, GO:2001243, GO:2000564, GO:0046330, GO:0046328, GO:0046328, GO:0043508, GO:0016192, GO:0007258, GO:0006355, negative regulation of intrinsic apoptotic signaling pathway, regulation of CD8-positive, alpha-beta T cell proliferation, positive regulation of JNK cascade, regulation of JNK cascade, regulation of JNK cascade, negative regulation of JUN kinase activity, vesicle-mediated transport, JUN phosphorylation, regulation of transcription, DNA-templated, 6 12 13 15 25 19 15 17 36 ENSG00000121671 chr11 45847118 45883248 + CRY2 protein_coding This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]. 1408 GO:0016607, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005576, nuclear speck, cytosol, cytoplasm, nucleus, nucleus, extracellular region, GO:0071949, GO:0071949, GO:0019902, GO:0009882, GO:0005515, GO:0003914, GO:0003904, GO:0003697, GO:0003684, GO:0003677, GO:0003677, GO:0000976, FAD binding, FAD binding, phosphatase binding, blue light photoreceptor activity, protein binding, DNA (6-4) photolyase activity, deoxyribodipyrimidine photo-lyase activity, single-stranded DNA binding, damaged DNA binding, DNA binding, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000323, GO:2000118, GO:0045892, GO:0045892, GO:0045892, GO:0043153, GO:0043153, GO:0042754, GO:0042752, GO:0042593, GO:0032922, GO:0032922, GO:0032515, GO:0018298, GO:0014823, GO:0009785, GO:0009416, GO:0009416, GO:0007623, GO:0000719, GO:0000122, negative regulation of glucocorticoid receptor signaling pathway, regulation of sodium-dependent phosphate transport, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, entrainment of circadian clock by photoperiod, entrainment of circadian clock by photoperiod, negative regulation of circadian rhythm, regulation of circadian rhythm, glucose homeostasis, circadian regulation of gene expression, circadian regulation of gene expression, negative regulation of phosphoprotein phosphatase activity, protein-chromophore linkage, response to activity, blue light signaling pathway, response to light stimulus, response to light stimulus, circadian rhythm, photoreactive repair, negative regulation of transcription by RNA polymerase II, 240 225 305 130 104 171 149 137 135 ENSG00000121680 chr11 45909669 45918812 - PEX16 protein_coding The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]. 9409 GO:0016020, GO:0005789, GO:0005783, GO:0005779, GO:0005779, GO:0005778, GO:0005778, GO:0005777, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0008022, GO:0005515, protein C-terminus binding, protein binding, GO:0106101, GO:0045046, GO:0032581, GO:0022615, GO:0016558, GO:0016557, GO:0007031, GO:0007031, GO:0006625, ER-dependent peroxisome localization, protein import into peroxisome membrane, ER-dependent peroxisome organization, protein to membrane docking, protein import into peroxisome matrix, peroxisome membrane biogenesis, peroxisome organization, peroxisome organization, protein targeting to peroxisome, 229 233 218 163 273 170 201 174 146 ENSG00000121690 chr11 33015864 33033582 + DEPDC7 protein_coding 91614 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0003674, molecular_function, GO:0051056, GO:0035556, GO:0008150, regulation of small GTPase mediated signal transduction, intracellular signal transduction, biological_process, 2 3 9 2 1 1 0 0 9 ENSG00000121691 chr11 34438925 34472062 + CAT protein_coding This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]. 847 GO:1904813, GO:0070062, GO:0043231, GO:0034774, GO:0032991, GO:0016020, GO:0005925, GO:0005886, GO:0005829, GO:0005794, GO:0005783, GO:0005782, GO:0005778, GO:0005777, GO:0005777, GO:0005764, GO:0005758, GO:0005739, GO:0005737, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, intracellular membrane-bounded organelle, secretory granule lumen, protein-containing complex, membrane, focal adhesion, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, peroxisomal matrix, peroxisomal membrane, peroxisome, peroxisome, lysosome, mitochondrial intermembrane space, mitochondrion, cytoplasm, extracellular region, GO:0050661, GO:0046872, GO:0042803, GO:0042802, GO:0020037, GO:0020037, GO:0019899, GO:0016684, GO:0016209, GO:0004096, GO:0004096, GO:0004046, GO:0000268, NADP binding, metal ion binding, protein homodimerization activity, identical protein binding, heme binding, heme binding, enzyme binding, oxidoreductase activity, acting on peroxide as acceptor, antioxidant activity, catalase activity, catalase activity, aminoacylase activity, peroxisome targeting sequence binding, GO:0098869, GO:0080184, GO:0071363, GO:0070542, GO:0055093, GO:0051781, GO:0051092, GO:0046686, GO:0045471, GO:0043312, GO:0043066, GO:0042744, GO:0042744, GO:0042542, GO:0042493, GO:0034599, GO:0033591, GO:0033197, GO:0033189, GO:0032868, GO:0032355, GO:0032088, GO:0020027, GO:0014854, GO:0014823, GO:0014068, GO:0010288, GO:0010193, GO:0009650, GO:0009642, GO:0009060, GO:0008203, GO:0007568, GO:0006641, GO:0006625, GO:0001666, GO:0001657, GO:0001649, GO:0000302, cellular oxidant detoxification, response to phenylpropanoid, cellular response to growth factor stimulus, response to fatty acid, response to hyperoxia, positive regulation of cell division, positive regulation of NF-kappaB transcription factor activity, response to cadmium ion, response to ethanol, neutrophil degranulation, negative regulation of apoptotic process, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, response to hydrogen peroxide, response to drug, cellular response to oxidative stress, response to L-ascorbic acid, response to vitamin E, response to vitamin A, response to insulin, response to estradiol, negative regulation of NF-kappaB transcription factor activity, hemoglobin metabolic process, response to inactivity, response to activity, positive regulation of phosphatidylinositol 3-kinase signaling, response to lead ion, response to ozone, UV protection, response to light intensity, aerobic respiration, cholesterol metabolic process, aging, triglyceride metabolic process, protein targeting to peroxisome, response to hypoxia, ureteric bud development, osteoblast differentiation, response to reactive oxygen species, 1409 1926 2266 338 699 488 377 668 484 ENSG00000121716 chr7 100352176 100367733 + PILRB protein_coding The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013]. 29990 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042288, GO:0005515, MHC class I protein binding, protein binding, GO:0050776, GO:0007171, GO:0007169, regulation of immune response, activation of transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase signaling pathway, 186 200 273 117 120 124 131 107 196 ENSG00000121741 chr13 19958670 20091829 + ZMYM2 protein_coding The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]. 7750 GO:0016605, GO:0005829, PML body, cytosol, GO:0031624, GO:0008270, GO:0005515, ubiquitin conjugating enzyme binding, zinc ion binding, protein binding, GO:0008150, biological_process, 871 869 1261 1027 1423 1267 955 894 930 ENSG00000121742 chr13 20221962 20232395 - GJB6 protein_coding Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]. 10804 GO:0030054, GO:0016324, GO:0016021, GO:0005922, GO:0005921, GO:0005921, GO:0005884, GO:0005829, cell junction, apical plasma membrane, integral component of membrane, connexin complex, gap junction, gap junction, actin filament, cytosol, GO:1903763, GO:0051015, GO:0048487, GO:0008017, GO:0005515, GO:0005243, GO:0005243, gap junction channel activity involved in cell communication by electrical coupling, actin filament binding, beta-tubulin binding, microtubule binding, protein binding, gap junction channel activity, gap junction channel activity, GO:1990349, GO:0071333, GO:0055085, GO:0051602, GO:0048839, GO:0042471, GO:0035633, GO:0032496, GO:0016264, GO:0016264, GO:0010644, GO:0008285, GO:0007605, GO:0007568, GO:0007267, GO:0006915, gap junction-mediated intercellular transport, cellular response to glucose stimulus, transmembrane transport, response to electrical stimulus, inner ear development, ear morphogenesis, maintenance of blood-brain barrier, response to lipopolysaccharide, gap junction assembly, gap junction assembly, cell communication by electrical coupling, negative regulation of cell population proliferation, sensory perception of sound, aging, cell-cell signaling, apoptotic process, 18 45 32 21 48 35 17 37 48 ENSG00000121743 chr13 20138255 20161049 - GJA3 protein_coding The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]. 2700 GO:0005922, GO:0005922, GO:0005887, connexin complex, connexin complex, integral component of plasma membrane, GO:0055077, GO:0005243, gap junction hemi-channel activity, gap junction channel activity, GO:1990349, GO:0055085, GO:0007601, GO:0007267, gap junction-mediated intercellular transport, transmembrane transport, visual perception, cell-cell signaling, 0 0 1 0 0 0 0 1 0 ENSG00000121749 chr12 71839707 71927248 + TBC1D15 protein_coding This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 64786 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902017, GO:0090630, GO:0043087, GO:0006886, regulation of cilium assembly, activation of GTPase activity, regulation of GTPase activity, intracellular protein transport, 1132 1091 1336 565 790 826 699 678 586 ENSG00000121753 chr1 31727117 31764893 - ADGRB2 protein_coding This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 576 GO:0016021, GO:0005887, GO:0005886, GO:0005813, integral component of membrane, integral component of plasma membrane, plasma membrane, centrosome, GO:0005515, GO:0004930, GO:0004930, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0051965, GO:0033173, GO:0016525, GO:0007422, GO:0007189, GO:0007186, GO:0007166, positive regulation of synapse assembly, calcineurin-NFAT signaling cascade, negative regulation of angiogenesis, peripheral nervous system development, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 4 0 0 8 2 4 1 1 0 ENSG00000121764 chr1 31617686 31632518 + HCRTR1 protein_coding The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]. 3061 GO:0045202, GO:0005887, GO:0005887, GO:0005886, synapse, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0017046, GO:0016499, GO:0005515, GO:0004930, peptide hormone binding, orexin receptor activity, protein binding, G protein-coupled receptor activity, GO:0070374, GO:0051480, GO:0007631, GO:0007268, GO:0007218, GO:0007218, GO:0007186, GO:0007186, positive regulation of ERK1 and ERK2 cascade, regulation of cytosolic calcium ion concentration, feeding behavior, chemical synaptic transmission, neuropeptide signaling pathway, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 92 95 121 40 42 35 29 35 37 ENSG00000121766 chr1 31296982 31364953 + ZCCHC17 protein_coding 51538 GO:0005730, nucleolus, GO:0042802, GO:0008270, GO:0005515, GO:0003723, GO:0003723, identical protein binding, zinc ion binding, protein binding, RNA binding, RNA binding, GO:0043489, RNA stabilization, 87 81 99 52 54 53 44 53 38 ENSG00000121769 chr1 31365625 31376850 - FABP3 protein_coding The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 2170 GO:0070062, GO:0016528, GO:0005829, GO:0005615, GO:0005615, extracellular exosome, sarcoplasm, cytosol, extracellular space, extracellular space, GO:0070538, GO:0050543, GO:0036041, GO:0008092, GO:0005515, GO:0005324, oleic acid binding, icosatetraenoic acid binding, long-chain fatty acid binding, cytoskeletal protein binding, protein binding, long-chain fatty acid transporter activity, GO:2001245, GO:0140214, GO:0071073, GO:0070542, GO:0055091, GO:0046320, GO:0042632, GO:0042493, GO:0032868, GO:0032365, GO:0019433, GO:0015909, GO:0008285, GO:0006631, regulation of phosphatidylcholine biosynthetic process, positive regulation of long-chain fatty acid import into cell, positive regulation of phospholipid biosynthetic process, response to fatty acid, phospholipid homeostasis, regulation of fatty acid oxidation, cholesterol homeostasis, response to drug, response to insulin, intracellular lipid transport, triglyceride catabolic process, long-chain fatty acid transport, negative regulation of cell population proliferation, fatty acid metabolic process, 3 2 4 4 0 5 0 3 3 ENSG00000121774 chr1 32013829 32060850 + KHDRBS1 protein_coding This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 10657 GO:0070618, GO:0032991, GO:0016020, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, Grb2-Sos complex, protein-containing complex, membrane, membrane, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990782, GO:0044877, GO:0042802, GO:0042802, GO:0042169, GO:0035591, GO:0019904, GO:0017124, GO:0008266, GO:0008143, GO:0008143, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003677, protein tyrosine kinase binding, protein-containing complex binding, identical protein binding, identical protein binding, SH2 domain binding, signaling adaptor activity, protein domain specific binding, SH3 domain binding, poly(U) RNA binding, poly(A) binding, poly(A) binding, protein binding, mRNA binding, RNA binding, RNA binding, DNA binding, GO:0050852, GO:0046833, GO:0046831, GO:0045948, GO:0045892, GO:0031647, GO:0007283, GO:0006397, GO:0000381, GO:0000381, GO:0000122, GO:0000086, GO:0000082, T cell receptor signaling pathway, positive regulation of RNA export from nucleus, regulation of RNA export from nucleus, positive regulation of translational initiation, negative regulation of transcription, DNA-templated, regulation of protein stability, spermatogenesis, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 1250 1165 1463 849 852 1106 948 795 802 ENSG00000121775 chr1 32072031 32102866 + TMEM39B protein_coding 55116 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:1902902, GO:1901097, GO:0045070, negative regulation of autophagosome assembly, negative regulation of autophagosome maturation, positive regulation of viral genome replication, 34 24 41 45 38 41 45 44 29 ENSG00000121797 chr3 46407163 46412997 + CCRL2 protein_coding This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008]. 9034 GO:0009897, GO:0005887, GO:0005886, GO:0005737, external side of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0048020, GO:0042379, GO:0019957, GO:0016493, GO:0004950, CCR chemokine receptor binding, chemokine receptor binding, C-C chemokine binding, C-C chemokine receptor activity, chemokine receptor activity, GO:0070098, GO:0060326, GO:0019722, GO:0007204, GO:0007186, GO:0006955, GO:0006954, GO:0006954, chemokine-mediated signaling pathway, cell chemotaxis, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, inflammatory response, inflammatory response, 199 544 349 1077 1407 978 1379 1781 913 ENSG00000121807 chr3 46353734 46360928 + CCR2 protein_coding The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3. [provided by RefSeq, Aug 2017]. 729230 GO:0048471, GO:0043204, GO:0043025, GO:0030425, GO:0016021, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, perinuclear region of cytoplasm, perikaryon, neuronal cell body, dendrite, integral component of membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0042802, GO:0035717, GO:0035716, GO:0035715, GO:0031727, GO:0019957, GO:0016493, GO:0005515, GO:0004950, identical protein binding, chemokine (C-C motif) ligand 7 binding, chemokine (C-C motif) ligand 12 binding, chemokine (C-C motif) ligand 2 binding, CCR2 chemokine receptor binding, C-C chemokine binding, C-C chemokine receptor activity, protein binding, chemokine receptor activity, GO:2000473, GO:2000464, GO:2000451, GO:2000439, GO:2000412, GO:1905517, GO:1904783, GO:1903238, GO:0120162, GO:0097350, GO:0090594, GO:0090265, GO:0090026, GO:0090026, GO:0070098, GO:0061756, GO:0060326, GO:0051968, GO:0050870, GO:0050729, GO:0050727, GO:0048873, GO:0046641, GO:0045580, GO:0043310, GO:0035705, GO:0035696, GO:0032760, GO:0032743, GO:0032729, GO:0030097, GO:0019725, GO:0019722, GO:0019233, GO:0019221, GO:0019221, GO:0016525, GO:0016032, GO:0010820, GO:0010574, GO:0009611, GO:0007259, GO:0007204, GO:0007194, GO:0007186, GO:0006968, GO:0006959, GO:0006955, GO:0006954, GO:0006874, GO:0002829, GO:0002827, GO:0002724, GO:0002548, GO:0002407, GO:0001974, positive regulation of hematopoietic stem cell migration, positive regulation of astrocyte chemotaxis, positive regulation of CD8-positive, alpha-beta T cell extravasation, positive regulation of monocyte extravasation, positive regulation of thymocyte migration, macrophage migration, positive regulation of NMDA glutamate receptor activity, positive regulation of leukocyte tethering or rolling, positive regulation of cold-induced thermogenesis, neutrophil clearance, inflammatory response to wounding, positive regulation of immune complex clearance by monocytes and macrophages, positive regulation of monocyte chemotaxis, positive regulation of monocyte chemotaxis, chemokine-mediated signaling pathway, leukocyte adhesion to vascular endothelial cell, cell chemotaxis, positive regulation of synaptic transmission, glutamatergic, positive regulation of T cell activation, positive regulation of inflammatory response, regulation of inflammatory response, homeostasis of number of cells within a tissue, positive regulation of alpha-beta T cell proliferation, regulation of T cell differentiation, negative regulation of eosinophil degranulation, T-helper 17 cell chemotaxis, monocyte extravasation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-2 production, positive regulation of interferon-gamma production, hemopoiesis, cellular homeostasis, calcium-mediated signaling, sensory perception of pain, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, negative regulation of angiogenesis, viral process, positive regulation of T cell chemotaxis, regulation of vascular endothelial growth factor production, response to wounding, receptor signaling pathway via JAK-STAT, positive regulation of cytosolic calcium ion concentration, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, cellular defense response, humoral immune response, immune response, inflammatory response, cellular calcium ion homeostasis, negative regulation of type 2 immune response, positive regulation of T-helper 1 type immune response, regulation of T cell cytokine production, monocyte chemotaxis, dendritic cell chemotaxis, blood vessel remodeling, 13 23 24 43 8 34 48 7 17 ENSG00000121851 chr1 145964702 145978848 + POLR3GL protein_coding 84265 GO:0005829, GO:0005666, GO:0005666, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytosol, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, nucleus, chromatin, chromatin, GO:0005515, protein binding, GO:0032481, GO:0006383, positive regulation of type I interferon production, transcription by RNA polymerase III, 74 69 77 59 63 100 57 57 64 ENSG00000121853 chr3 172445133 172448456 - GHSR protein_coding This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]. 2693 GO:0098978, GO:0045121, GO:0043005, GO:0016021, GO:0009986, GO:0005886, glutamatergic synapse, membrane raft, neuron projection, integral component of membrane, cell surface, plasma membrane, GO:0017046, GO:0016520, GO:0005515, GO:0004930, GO:0001616, peptide hormone binding, growth hormone-releasing hormone receptor activity, protein binding, G protein-coupled receptor activity, growth hormone secretagogue receptor activity, GO:2000110, GO:1990314, GO:1905564, GO:1905333, GO:1904349, GO:1904008, GO:1904000, GO:1903672, GO:0120058, GO:0098696, GO:0097067, GO:0090327, GO:0071548, GO:0071222, GO:0060416, GO:0060123, GO:0051969, GO:0051963, GO:0050728, GO:0046697, GO:0046676, GO:0045923, GO:0043568, GO:0043134, GO:0040018, GO:0036321, GO:0032869, GO:0032720, GO:0032715, GO:0032691, GO:0032355, GO:0032354, GO:0032100, GO:0032099, GO:0032094, GO:0030252, GO:0010700, GO:0009755, GO:0009725, GO:0008343, GO:0008154, GO:0007611, GO:0007283, GO:0007186, GO:0007186, negative regulation of macrophage apoptotic process, cellular response to insulin-like growth factor stimulus, positive regulation of vascular endothelial cell proliferation, regulation of gastric motility, positive regulation of small intestine smooth muscle contraction, response to monosodium glutamate, positive regulation of eating behavior, positive regulation of sprouting angiogenesis, positive regulation of small intestinal transit, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, cellular response to thyroid hormone stimulus, negative regulation of locomotion involved in locomotory behavior, response to dexamethasone, cellular response to lipopolysaccharide, response to growth hormone, regulation of growth hormone secretion, regulation of transmission of nerve impulse, regulation of synapse assembly, negative regulation of inflammatory response, decidualization, negative regulation of insulin secretion, positive regulation of fatty acid metabolic process, positive regulation of insulin-like growth factor receptor signaling pathway, regulation of hindgut contraction, positive regulation of multicellular organism growth, ghrelin secretion, cellular response to insulin stimulus, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, response to estradiol, response to follicle-stimulating hormone, positive regulation of appetite, negative regulation of appetite, response to food, growth hormone secretion, negative regulation of norepinephrine secretion, hormone-mediated signaling pathway, response to hormone, adult feeding behavior, actin polymerization or depolymerization, learning or memory, spermatogenesis, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 1 0 0 0 0 0 0 4 ENSG00000121858 chr3 172505508 172523507 - TNFSF10 protein_coding The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 8743 GO:0070062, GO:0005887, GO:0005576, extracellular exosome, integral component of plasma membrane, extracellular region, GO:0045569, GO:0042802, GO:0008270, GO:0005515, GO:0005164, GO:0005125, GO:0005102, TRAIL binding, identical protein binding, zinc ion binding, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:2001238, GO:2001238, GO:1902042, GO:1902041, GO:0090200, GO:0043280, GO:0043123, GO:0043123, GO:0043065, GO:0032868, GO:0008584, GO:0007267, GO:0007166, GO:0007165, GO:0006955, GO:0006919, GO:0006915, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of release of cytochrome c from mitochondria, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, response to insulin, male gonad development, cell-cell signaling, cell surface receptor signaling pathway, signal transduction, immune response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 1189 805 1382 485 1007 861 892 1114 877 ENSG00000121864 chr3 179322991 179338583 + ZNF639 protein_coding This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 51193 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0043621, GO:0005515, GO:0003700, GO:0003700, GO:0001228, GO:0000978, GO:0000978, GO:0000976, metal ion binding, protein self-association, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0046718, GO:0045944, GO:0045892, GO:0045892, GO:0043923, GO:0043922, GO:0030307, GO:0006357, viral entry into host cell, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation by host of viral transcription, negative regulation by host of viral transcription, positive regulation of cell growth, regulation of transcription by RNA polymerase II, 37 35 87 67 33 113 68 39 65 ENSG00000121871 chr3 165186720 165197109 - SLITRK3 protein_coding This gene encodes a member of the Slitrk family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]. 22865 GO:0099060, GO:0099060, GO:0098982, GO:0098982, GO:0005886, integral component of postsynaptic specialization membrane, integral component of postsynaptic specialization membrane, GABA-ergic synapse, GABA-ergic synapse, plasma membrane, GO:0005515, protein binding, GO:1905606, GO:1905606, GO:0099560, GO:0099560, GO:0051965, GO:0007409, regulation of presynapse assembly, regulation of presynapse assembly, synaptic membrane adhesion, synaptic membrane adhesion, positive regulation of synapse assembly, axonogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000121879 chr3 179148114 179240093 + PIK3CA protein_coding Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]. 5290 GO:0048471, GO:0030027, GO:0016020, GO:0014704, GO:0005944, GO:0005943, GO:0005943, GO:0005942, GO:0005942, GO:0005886, GO:0005829, GO:0005737, perinuclear region of cytoplasm, lamellipodium, membrane, intercalated disc, phosphatidylinositol 3-kinase complex, class IB, phosphatidylinositol 3-kinase complex, class IA, phosphatidylinositol 3-kinase complex, class IA, phosphatidylinositol 3-kinase complex, phosphatidylinositol 3-kinase complex, plasma membrane, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0052812, GO:0052742, GO:0046934, GO:0043560, GO:0035005, GO:0035004, GO:0035004, GO:0030295, GO:0016303, GO:0016303, GO:0016301, GO:0016301, GO:0005524, GO:0005515, protein threonine kinase activity, protein serine kinase activity, phosphatidylinositol-3,4-bisphosphate 5-kinase activity, phosphatidylinositol kinase activity, phosphatidylinositol-4,5-bisphosphate 3-kinase activity, insulin receptor substrate binding, 1-phosphatidylinositol-4-phosphate 3-kinase activity, phosphatidylinositol 3-kinase activity, phosphatidylinositol 3-kinase activity, protein kinase activator activity, 1-phosphatidylinositol-3-kinase activity, 1-phosphatidylinositol-3-kinase activity, kinase activity, kinase activity, ATP binding, protein binding, GO:2000811, GO:2000653, GO:2000270, GO:0110053, GO:0097009, GO:0086003, GO:0071464, GO:0071333, GO:0060612, GO:0060048, GO:0055119, GO:0051897, GO:0051897, GO:0050900, GO:0050852, GO:0048015, GO:0048015, GO:0048010, GO:0046854, GO:0046854, GO:0044029, GO:0043542, GO:0043524, GO:0043491, GO:0043457, GO:0043276, GO:0040014, GO:0038128, GO:0038096, GO:0038095, GO:0038084, GO:0038028, GO:0036092, GO:0035994, GO:0033138, GO:0032147, GO:0032008, GO:0031295, GO:0030835, GO:0030168, GO:0030036, GO:0019221, GO:0016477, GO:0016310, GO:0016242, GO:0014068, GO:0014065, GO:0014065, GO:0014065, GO:0010592, GO:0010468, GO:0007411, GO:0007186, GO:0007173, GO:0006661, GO:0006468, GO:0006006, GO:0001944, GO:0001889, GO:0001525, negative regulation of anoikis, regulation of genetic imprinting, negative regulation of fibroblast apoptotic process, regulation of actin filament organization, energy homeostasis, cardiac muscle cell contraction, cellular response to hydrostatic pressure, cellular response to glucose stimulus, adipose tissue development, cardiac muscle contraction, relaxation of cardiac muscle, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, leukocyte migration, T cell receptor signaling pathway, phosphatidylinositol-mediated signaling, phosphatidylinositol-mediated signaling, vascular endothelial growth factor receptor signaling pathway, phosphatidylinositol phosphorylation, phosphatidylinositol phosphorylation, hypomethylation of CpG island, endothelial cell migration, negative regulation of neuron apoptotic process, protein kinase B signaling, regulation of cellular respiration, anoikis, regulation of multicellular organism growth, ERBB2 signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, vascular endothelial growth factor signaling pathway, insulin receptor signaling pathway via phosphatidylinositol 3-kinase, phosphatidylinositol-3-phosphate biosynthetic process, response to muscle stretch, positive regulation of peptidyl-serine phosphorylation, activation of protein kinase activity, positive regulation of TOR signaling, T cell costimulation, negative regulation of actin filament depolymerization, platelet activation, actin cytoskeleton organization, cytokine-mediated signaling pathway, cell migration, phosphorylation, negative regulation of macroautophagy, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, positive regulation of lamellipodium assembly, regulation of gene expression, axon guidance, G protein-coupled receptor signaling pathway, epidermal growth factor receptor signaling pathway, phosphatidylinositol biosynthetic process, protein phosphorylation, glucose metabolic process, vasculature development, liver development, angiogenesis, 833 836 1030 722 845 827 752 634 665 ENSG00000121892 chr4 39822863 39977956 - PDS5A protein_coding The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 23244 GO:0005886, GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000775, plasma membrane, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromosome, centromeric region, GO:0005515, protein binding, GO:0051301, GO:0008156, GO:0007064, GO:0007064, GO:0006281, cell division, negative regulation of DNA replication, mitotic sister chromatid cohesion, mitotic sister chromatid cohesion, DNA repair, 341 288 445 487 248 521 431 250 357 ENSG00000121895 chr4 38966744 39032922 - TMEM156 protein_coding 80008 GO:0016021, integral component of membrane, 23 26 20 59 29 39 50 27 26 ENSG00000121897 chr4 39458587 39485109 + LIAS protein_coding The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]. 11019 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0102553, GO:0102552, GO:0051539, GO:0046872, GO:0016992, GO:0016992, lipoyl synthase activity (acting on pyruvate dehydrogenase E2 protein), lipoyl synthase activity (acting on glycine-cleavage complex H protein, 4 iron, 4 sulfur cluster binding, metal ion binding, lipoate synthase activity, lipoate synthase activity, GO:0034641, GO:0032496, GO:0009249, GO:0009107, GO:0009107, GO:0006979, GO:0006954, GO:0001843, cellular nitrogen compound metabolic process, response to lipopolysaccharide, protein lipoylation, lipoate biosynthetic process, lipoate biosynthetic process, response to oxidative stress, inflammatory response, neural tube closure, 39 36 65 81 65 70 55 78 54 ENSG00000121898 chr10 123706207 123940267 - CPXM2 protein_coding 119587 GO:0005615, extracellular space, GO:0008270, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, GO:0016485, GO:0006518, protein processing, peptide metabolic process, 0 1 0 0 0 0 0 1 0 ENSG00000121900 chr1 32894594 32901438 - TMEM54 protein_coding 113452 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 2 3 0 0 0 0 0 0 ENSG00000121903 chr1 33472645 33496507 + ZSCAN20 protein_coding 7579 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 0 8 5 0 3 0 1 12 ENSG00000121904 chr1 33513999 34165842 - CSMD2 protein_coding The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020]. 114784 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 0 0 0 1 0 1 0 0 0 ENSG00000121905 chr1 32885994 32898441 + HPCA protein_coding The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]. 3208 GO:0098978, GO:0044327, GO:0043204, GO:0032839, GO:0032809, GO:0032590, GO:0030424, GO:0019898, GO:0005829, GO:0005737, glutamatergic synapse, dendritic spine head, perikaryon, dendrite cytoplasm, neuronal cell body membrane, dendrite membrane, axon, extrinsic component of membrane, cytosol, cytoplasm, GO:0042802, GO:0019900, GO:0005515, GO:0005509, GO:0005509, GO:0003779, identical protein binding, kinase binding, protein binding, calcium ion binding, calcium ion binding, actin binding, GO:1904010, GO:1904009, GO:1902065, GO:1901986, GO:1901385, GO:0099149, GO:0090314, GO:0071277, GO:0071257, GO:0060041, GO:0048839, GO:0045762, GO:0031584, GO:0031283, GO:0019722, GO:0007420, response to Aroclor 1254, cellular response to monosodium glutamate, response to L-glutamate, response to ketamine, regulation of voltage-gated calcium channel activity, regulation of postsynaptic neurotransmitter receptor internalization, positive regulation of protein targeting to membrane, cellular response to calcium ion, cellular response to electrical stimulus, retina development in camera-type eye, inner ear development, positive regulation of adenylate cyclase activity, activation of phospholipase D activity, negative regulation of guanylate cyclase activity, calcium-mediated signaling, brain development, 0 2 2 1 0 0 0 1 0 ENSG00000121931 chr1 110947185 110964079 - LRIF1 protein_coding 55791 GO:0034451, GO:0016363, GO:0005654, GO:0001740, GO:0000781, centriolar satellite, nuclear matrix, nucleoplasm, Barr body, chromosome, telomeric region, GO:0042974, GO:0005515, retinoic acid receptor binding, protein binding, GO:0009048, GO:0006355, dosage compensation by inactivation of X chromosome, regulation of transcription, DNA-templated, 694 511 887 925 1137 975 835 523 562 ENSG00000121933 chr1 111483348 111563962 - TMIGD3 protein_coding This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]. 57413 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0004888, transmembrane signaling receptor activity, GO:0032088, GO:0030336, GO:0009611, GO:0008285, GO:0008016, GO:0007190, GO:0007165, GO:0006954, negative regulation of NF-kappaB transcription factor activity, negative regulation of cell migration, response to wounding, negative regulation of cell population proliferation, regulation of heart contraction, activation of adenylate cyclase activity, signal transduction, inflammatory response, 7 6 47 0 7 10 12 11 4 ENSG00000121940 chr1 108929508 108963457 - CLCC1 protein_coding 23155 GO:0044233, GO:0043231, GO:0034707, GO:0031965, GO:0016020, GO:0005789, GO:0005783, GO:0005783, GO:0000139, mitochondria-associated endoplasmic reticulum membrane, intracellular membrane-bounded organelle, chloride channel complex, nuclear membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0005515, GO:0005254, protein binding, chloride channel activity, GO:1902476, chloride transmembrane transport, 75 66 86 82 48 60 87 57 81 ENSG00000121957 chr1 108875350 108934545 + GPSM2 protein_coding The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 29899 GO:0099738, GO:0097575, GO:0097431, GO:0097431, GO:0032991, GO:0032991, GO:0016328, GO:0005938, GO:0005938, GO:0005829, GO:0005813, GO:0005737, cell cortex region, lateral cell cortex, mitotic spindle pole, mitotic spindle pole, protein-containing complex, protein-containing complex, lateral plasma membrane, cell cortex, cell cortex, cytosol, centrosome, cytoplasm, GO:0070840, GO:0043621, GO:0042802, GO:0019904, GO:0008022, GO:0005515, GO:0005092, GO:0001965, GO:0000166, dynein complex binding, protein self-association, identical protein binding, protein domain specific binding, protein C-terminus binding, protein binding, GDP-dissociation inhibitor activity, G-protein alpha-subunit binding, nucleotide binding, GO:1905832, GO:1904778, GO:0060236, GO:0051661, GO:0051301, GO:0050790, GO:0031291, GO:0007186, GO:0007052, GO:0000132, positive regulation of spindle assembly, positive regulation of protein localization to cell cortex, regulation of mitotic spindle organization, maintenance of centrosome location, cell division, regulation of catalytic activity, Ran protein signal transduction, G protein-coupled receptor signaling pathway, mitotic spindle organization, establishment of mitotic spindle orientation, 132 113 99 82 86 89 110 95 93 ENSG00000121964 chr2 143938068 144332568 - GTDC1 protein_coding 79712 387 389 452 242 383 320 283 328 265 ENSG00000121966 chr2 136114349 136118165 - CXCR4 protein_coding This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 7852 GO:0070062, GO:0032991, GO:0032991, GO:0031410, GO:0031252, GO:0030054, GO:0016021, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005770, GO:0005769, GO:0005769, GO:0005764, GO:0005764, GO:0005737, GO:0005634, extracellular exosome, protein-containing complex, protein-containing complex, cytoplasmic vesicle, cell leading edge, cell junction, integral component of membrane, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, late endosome, early endosome, early endosome, lysosome, lysosome, cytoplasm, nucleus, GO:0043130, GO:0042802, GO:0038147, GO:0032027, GO:0031625, GO:0019957, GO:0019957, GO:0016494, GO:0016493, GO:0015026, GO:0008144, GO:0005515, GO:0004930, GO:0003779, GO:0001618, ubiquitin binding, identical protein binding, C-X-C motif chemokine 12 receptor activity, myosin light chain binding, ubiquitin protein ligase binding, C-C chemokine binding, C-C chemokine binding, C-X-C chemokine receptor activity, C-C chemokine receptor activity, coreceptor activity, drug binding, protein binding, G protein-coupled receptor activity, actin binding, virus receptor activity, GO:2000448, GO:1990478, GO:1905322, GO:1903861, GO:0120162, GO:0071345, GO:0061154, GO:0060326, GO:0060048, GO:0051924, GO:0050966, GO:0050965, GO:0050921, GO:0050920, GO:0050792, GO:0048714, GO:0045446, GO:0043278, GO:0043217, GO:0043067, GO:0038160, GO:0038160, GO:0035690, GO:0035470, GO:0030155, GO:0022029, GO:0022008, GO:0019722, GO:0019722, GO:0019064, GO:0014823, GO:0009615, GO:0008038, GO:0007420, GO:0007411, GO:0007204, GO:0007186, GO:0007186, GO:0006955, GO:0006954, GO:0006915, GO:0002407, GO:0002064, GO:0001764, GO:0001666, GO:0000187, positive regulation of macrophage migration inhibitory factor signaling pathway, response to ultrasound, positive regulation of mesenchymal stem cell migration, positive regulation of dendrite extension, positive regulation of cold-induced thermogenesis, cellular response to cytokine stimulus, endothelial tube morphogenesis, cell chemotaxis, cardiac muscle contraction, regulation of calcium ion transport, detection of mechanical stimulus involved in sensory perception of pain, detection of temperature stimulus involved in sensory perception of pain, positive regulation of chemotaxis, regulation of chemotaxis, regulation of viral process, positive regulation of oligodendrocyte differentiation, endothelial cell differentiation, response to morphine, myelin maintenance, regulation of programmed cell death, CXCL12-activated CXCR4 signaling pathway, CXCL12-activated CXCR4 signaling pathway, cellular response to drug, positive regulation of vascular wound healing, regulation of cell adhesion, telencephalon cell migration, neurogenesis, calcium-mediated signaling, calcium-mediated signaling, fusion of virus membrane with host plasma membrane, response to activity, response to virus, neuron recognition, brain development, axon guidance, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, inflammatory response, apoptotic process, dendritic cell chemotaxis, epithelial cell development, neuron migration, response to hypoxia, activation of MAPK activity, 18669 22958 26720 8126 11906 12212 12427 14794 12602 ENSG00000121988 chr2 135136916 135531236 - ZRANB3 protein_coding 84083 GO:0043596, GO:0043596, GO:0005654, nuclear replication fork, nuclear replication fork, nucleoplasm, GO:0070530, GO:0046872, GO:0036310, GO:0036310, GO:0005524, GO:0005515, GO:0004520, GO:0004520, GO:0003678, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, annealing helicase activity, annealing helicase activity, ATP binding, protein binding, endodeoxyribonuclease activity, endodeoxyribonuclease activity, DNA helicase activity, GO:0090305, GO:0048478, GO:0048478, GO:0045910, GO:0036292, GO:0036292, GO:0032508, GO:0031297, GO:0031297, GO:0009411, GO:0006974, GO:0006281, GO:0006281, GO:0000733, nucleic acid phosphodiester bond hydrolysis, replication fork protection, replication fork protection, negative regulation of DNA recombination, DNA rewinding, DNA rewinding, DNA duplex unwinding, replication fork processing, replication fork processing, response to UV, cellular response to DNA damage stimulus, DNA repair, DNA repair, DNA strand renaturation, 44 36 31 45 39 34 33 36 44 ENSG00000121989 chr2 147844517 147930826 + ACVR2A protein_coding This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]. 92 GO:0048179, GO:0043235, GO:0043235, GO:0034673, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005737, activin receptor complex, receptor complex, receptor complex, inhibin-betaglycan-ActRII complex, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0098821, GO:0048185, GO:0046872, GO:0043621, GO:0034711, GO:0030165, GO:0019838, GO:0017002, GO:0015026, GO:0005524, GO:0005515, GO:0005515, GO:0004675, GO:0004674, GO:0004674, BMP receptor activity, activin binding, metal ion binding, protein self-association, inhibin binding, PDZ domain binding, growth factor binding, activin-activated receptor activity, coreceptor activity, ATP binding, protein binding, protein binding, transmembrane receptor protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0071773, GO:0071363, GO:0060011, GO:0050999, GO:0048706, GO:0045944, GO:0045669, GO:0045648, GO:0043084, GO:0042713, GO:0032927, GO:0032924, GO:0032924, GO:0030509, GO:0030509, GO:0030509, GO:0030501, GO:0010862, GO:0009952, GO:0007498, GO:0007368, GO:0007283, GO:0007178, GO:0006468, GO:0001934, GO:0001702, cellular response to BMP stimulus, cellular response to growth factor stimulus, Sertoli cell proliferation, regulation of nitric-oxide synthase activity, embryonic skeletal system development, positive regulation of transcription by RNA polymerase II, positive regulation of osteoblast differentiation, positive regulation of erythrocyte differentiation, penile erection, sperm ejaculation, positive regulation of activin receptor signaling pathway, activin receptor signaling pathway, activin receptor signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, positive regulation of pathway-restricted SMAD protein phosphorylation, anterior/posterior pattern specification, mesoderm development, determination of left/right symmetry, spermatogenesis, transmembrane receptor protein serine/threonine kinase signaling pathway, protein phosphorylation, positive regulation of protein phosphorylation, gastrulation with mouth forming second, 11 16 17 24 12 7 15 14 10 ENSG00000122008 chr5 75511756 75601144 + POLK protein_coding This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]. 51426 GO:0090734, GO:0016604, GO:0005654, GO:0005654, GO:0005634, site of DNA damage, nuclear body, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0003887, GO:0003684, metal ion binding, DNA-directed DNA polymerase activity, damaged DNA binding, GO:0042276, GO:0042276, GO:0042276, GO:0034644, GO:0033683, GO:0019985, GO:0006974, GO:0006297, GO:0006297, GO:0006296, GO:0006283, GO:0006281, GO:0006281, GO:0006260, error-prone translesion synthesis, error-prone translesion synthesis, error-prone translesion synthesis, cellular response to UV, nucleotide-excision repair, DNA incision, translesion synthesis, cellular response to DNA damage stimulus, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA repair, DNA repair, DNA replication, 174 156 179 153 186 219 187 126 166 ENSG00000122012 chr5 76083172 76353939 + SV2C protein_coding 22987 GO:0043005, GO:0030672, GO:0030672, GO:0016021, GO:0008021, GO:0005886, neuron projection, synaptic vesicle membrane, synaptic vesicle membrane, integral component of membrane, synaptic vesicle, plasma membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, GO:0007268, GO:0006836, transmembrane transport, chemical synaptic transmission, neurotransmitter transport, 1 6 0 2 3 0 0 1 3 ENSG00000122025 chr13 28003274 28100592 - FLT3 protein_coding This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]. 2322 GO:0043235, GO:0005887, GO:0005886, GO:0005788, GO:0005783, receptor complex, integral component of plasma membrane, plasma membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0043621, GO:0019838, GO:0005524, GO:0005515, GO:0005021, GO:0004896, GO:0004714, GO:0004714, protein self-association, growth factor binding, ATP binding, protein binding, vascular endothelial growth factor-activated receptor activity, cytokine receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, GO:0097028, GO:0071345, GO:0071345, GO:0046777, GO:0046651, GO:0043552, GO:0043410, GO:0043406, GO:0042981, GO:0042531, GO:0038084, GO:0035726, GO:0033674, GO:0030183, GO:0030183, GO:0030097, GO:0019221, GO:0019221, GO:0019221, GO:0018108, GO:0016032, GO:0014068, GO:0008284, GO:0007275, GO:0007169, GO:0002328, GO:0002318, GO:0001776, GO:0000165, dendritic cell differentiation, cellular response to cytokine stimulus, cellular response to cytokine stimulus, protein autophosphorylation, lymphocyte proliferation, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, vascular endothelial growth factor signaling pathway, common myeloid progenitor cell proliferation, positive regulation of kinase activity, B cell differentiation, B cell differentiation, hemopoiesis, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, viral process, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, pro-B cell differentiation, myeloid progenitor cell differentiation, leukocyte homeostasis, MAPK cascade, 0 1 1 7 6 3 10 2 7 ENSG00000122026 chr13 27251309 27256691 + RPL21 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6144 GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005783, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, endoplasmic reticulum, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 942 611 1476 2481 1285 2670 1659 1055 1884 ENSG00000122033 chr13 27435643 27450591 - MTIF3 protein_coding This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009]. 219402 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0043024, GO:0043022, GO:0008135, GO:0005515, GO:0003743, ribosomal small subunit binding, ribosome binding, translation factor activity, RNA binding, protein binding, translation initiation factor activity, GO:0070124, GO:0070124, GO:0032790, GO:0032790, mitochondrial translational initiation, mitochondrial translational initiation, ribosome disassembly, ribosome disassembly, 142 98 137 136 161 151 178 179 99 ENSG00000122034 chr13 27424544 27435823 + GTF3A protein_coding The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]. 2971 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0008097, GO:0003677, metal ion binding, 5S rRNA binding, DNA binding, GO:0042273, GO:0009303, GO:0006383, ribosomal large subunit biogenesis, rRNA transcription, transcription by RNA polymerase III, 222 167 249 374 230 437 233 157 338 ENSG00000122035 chr13 27270327 27273690 + RASL11A protein_coding RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]. 387496 GO:0016020, GO:0005730, membrane, nucleolus, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0045943, GO:0007165, positive regulation of transcription by RNA polymerase I, signal transduction, 8 4 10 29 19 10 12 16 25 ENSG00000122042 chr13 29764371 29850684 - UBL3 protein_coding 5412 GO:0070062, GO:0005886, extracellular exosome, plasma membrane, GO:0005515, protein binding, 1138 1122 1404 444 757 799 584 632 642 ENSG00000122043 chr13 29935905 29950488 + LINC00544 lincRNA 2 0 1 1 1 6 0 0 5 ENSG00000122068 chr3 197737179 197787596 + FYTTD1 protein_coding 84248 GO:0016607, GO:0016607, GO:0005654, nuclear speck, nuclear speck, nucleoplasm, GO:0005515, GO:0003729, GO:0003729, GO:0003723, protein binding, mRNA binding, mRNA binding, RNA binding, GO:0006406, GO:0006406, mRNA export from nucleus, mRNA export from nucleus, 261 263 325 228 206 282 218 183 215 ENSG00000122085 chr2 241072169 241102332 - MTERF4 protein_coding 130916 GO:0005829, GO:0005762, GO:0005759, GO:0005739, cytosol, mitochondrial large ribosomal subunit, mitochondrial matrix, mitochondrion, GO:0019843, GO:0005515, GO:0003690, rRNA binding, protein binding, double-stranded DNA binding, GO:0043010, GO:0042255, GO:0031167, GO:0007507, GO:0006626, GO:0006390, GO:0006355, camera-type eye development, ribosome assembly, rRNA methylation, heart development, protein targeting to mitochondrion, mitochondrial transcription, regulation of transcription, DNA-templated, 109 81 94 124 99 147 166 83 98 ENSG00000122121 chrX 129738974 129769538 + XPNPEP2 protein_coding Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]. 7512 GO:0070062, GO:0070062, GO:0031225, GO:0016020, GO:0005886, GO:0005576, extracellular exosome, extracellular exosome, anchored component of membrane, membrane, plasma membrane, extracellular region, GO:0070006, GO:0046872, GO:0004177, metalloaminopeptidase activity, metal ion binding, aminopeptidase activity, GO:0006508, proteolysis, 5 5 9 7 5 6 1 3 2 ENSG00000122122 chrX 129779979 129795201 + SASH3 protein_coding The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009]. 54440 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0048873, GO:0046622, GO:0043372, GO:0042102, GO:0032760, GO:0032753, GO:0032743, GO:0032733, GO:0032729, GO:0030890, GO:0002821, GO:0002726, GO:0002639, homeostasis of number of cells within a tissue, positive regulation of organ growth, positive regulation of CD4-positive, alpha-beta T cell differentiation, positive regulation of T cell proliferation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-4 production, positive regulation of interleukin-2 production, positive regulation of interleukin-10 production, positive regulation of interferon-gamma production, positive regulation of B cell proliferation, positive regulation of adaptive immune response, positive regulation of T cell cytokine production, positive regulation of immunoglobulin production, 4752 3672 6621 1267 1935 2210 1464 1531 2029 ENSG00000122126 chrX 129539849 129592561 + OCRL protein_coding This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 4952 GO:0031901, GO:0030670, GO:0030136, GO:0016020, GO:0005905, GO:0005886, GO:0005829, GO:0005802, GO:0005798, GO:0005795, GO:0005769, GO:0005764, GO:0005737, GO:0005737, GO:0005634, GO:0001750, early endosome membrane, phagocytic vesicle membrane, clathrin-coated vesicle, membrane, clathrin-coated pit, plasma membrane, cytosol, trans-Golgi network, Golgi-associated vesicle, Golgi stack, early endosome, lysosome, cytoplasm, cytoplasm, nucleus, photoreceptor outer segment, GO:0052745, GO:0052745, GO:0052659, GO:0052658, GO:0031267, GO:0005515, GO:0005096, GO:0004445, GO:0004439, GO:0004439, inositol phosphate phosphatase activity, inositol phosphate phosphatase activity, inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity, inositol-1,4,5-trisphosphate 5-phosphatase activity, small GTPase binding, protein binding, GTPase activator activity, inositol-polyphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, GO:0061024, GO:0060271, GO:0051056, GO:0046856, GO:0046855, GO:0043647, GO:0043547, GO:0043087, GO:0007165, GO:0006661, GO:0006629, GO:0001701, membrane organization, cilium assembly, regulation of small GTPase mediated signal transduction, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, inositol phosphate metabolic process, positive regulation of GTPase activity, regulation of GTPase activity, signal transduction, phosphatidylinositol biosynthetic process, lipid metabolic process, in utero embryonic development, 12 8 12 13 14 22 14 9 17 ENSG00000122133 chr9 135561756 135566955 + PAEP protein_coding This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 5047 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0036094, GO:0005549, GO:0005515, small molecule binding, odorant binding, protein binding, GO:2000359, GO:1902491, GO:0032725, GO:0007275, GO:0006915, regulation of binding of sperm to zona pellucida, negative regulation of sperm capacitation, positive regulation of granulocyte macrophage colony-stimulating factor production, multicellular organism development, apoptotic process, 0 0 0 3 0 0 0 0 0 ENSG00000122136 chr9 135546139 135549969 + OBP2A protein_coding This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 29991 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0036094, GO:0005549, GO:0005549, small molecule binding, odorant binding, odorant binding, GO:0050896, GO:0007608, GO:0007606, response to stimulus, sensory perception of smell, sensory perception of chemical stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000122140 chr9 135499984 135504673 + MRPS2 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]. 51116 GO:0005763, GO:0005763, GO:0005763, GO:0005743, GO:0005739, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003735, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0061668, GO:0032543, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial ribosome assembly, mitochondrial translation, 17 12 29 32 7 27 13 4 26 ENSG00000122145 chrX 80014756 80031769 + TBX22 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 50945 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0007275, GO:0006357, GO:0006355, GO:0001947, GO:0001708, GO:0000122, negative regulation of transcription, DNA-templated, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, heart looping, cell fate specification, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000122176 chr1 203340628 203351758 - FMOD protein_coding Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 2331 GO:0062023, GO:0062023, GO:0043202, GO:0031012, GO:0005796, GO:0005615, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, extracellular matrix, Golgi lumen, extracellular space, extracellular space, extracellular region, extracellular region, GO:0030021, extracellular matrix structural constituent conferring compression resistance, GO:0042340, GO:0030199, GO:0018146, GO:0007181, keratan sulfate catabolic process, collagen fibril organization, keratan sulfate biosynthetic process, transforming growth factor beta receptor complex assembly, 0 1 0 0 2 2 0 0 0 ENSG00000122180 chr1 203083132 203086036 - MYOG protein_coding Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008]. 4656 GO:0032993, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, protein-DNA complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0070888, GO:0046983, GO:0043565, GO:0031490, GO:0005515, GO:0003700, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, protein dimerization activity, sequence-specific DNA binding, chromatin DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1903862, GO:1901739, GO:0071392, GO:0071363, GO:0071356, GO:0071300, GO:0071285, GO:0071259, GO:0071158, GO:0051149, GO:0048743, GO:0048743, GO:0048741, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045820, GO:0045663, GO:0045663, GO:0045445, GO:0043403, GO:0042693, GO:0035914, GO:0014894, GO:0014891, GO:0014878, GO:0014873, GO:0014842, GO:0014737, GO:0014732, GO:0010831, GO:0009629, GO:0008285, GO:0007519, GO:0007049, GO:0006357, GO:0001503, positive regulation of oxidative phosphorylation, regulation of myoblast fusion, cellular response to estradiol stimulus, cellular response to growth factor stimulus, cellular response to tumor necrosis factor, cellular response to retinoic acid, cellular response to lithium ion, cellular response to magnetism, positive regulation of cell cycle arrest, positive regulation of muscle cell differentiation, positive regulation of skeletal muscle fiber development, positive regulation of skeletal muscle fiber development, skeletal muscle fiber development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of glycolytic process, positive regulation of myoblast differentiation, positive regulation of myoblast differentiation, myoblast differentiation, skeletal muscle tissue regeneration, muscle cell fate commitment, skeletal muscle cell differentiation, response to denervation involved in regulation of muscle adaptation, striated muscle atrophy, response to electrical stimulus involved in regulation of muscle adaptation, response to muscle activity involved in regulation of muscle adaptation, regulation of skeletal muscle satellite cell proliferation, positive regulation of muscle atrophy, skeletal muscle atrophy, positive regulation of myotube differentiation, response to gravity, negative regulation of cell population proliferation, skeletal muscle tissue development, cell cycle, regulation of transcription by RNA polymerase II, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000122188 chr1 203765176 203776233 + LAX1 protein_coding 54900 GO:0045121, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005794, membrane raft, integral component of membrane, membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, GO:0042169, GO:0019901, GO:0005515, SH2 domain binding, protein kinase binding, protein binding, GO:0050868, GO:0050868, GO:0050851, GO:0046649, GO:0042113, GO:0035556, GO:0035556, GO:0006955, GO:0006955, GO:0002250, GO:0000188, negative regulation of T cell activation, negative regulation of T cell activation, antigen receptor-mediated signaling pathway, lymphocyte activation, B cell activation, intracellular signal transduction, intracellular signal transduction, immune response, immune response, adaptive immune response, inactivation of MAPK activity, 39 30 106 69 27 76 56 16 75 ENSG00000122194 chr6 160702238 160753315 + PLG protein_coding The plasminogen protein encoded by this gene is a serine protease that circulates in blood plasma as an inactive zymogen and is converted to the active protease, plasmin, by several plasminogen activators such as tissue plasminogen activator (tPA), urokinase plasminogen activator (uPA), kallikrein, and factor XII (Hageman factor). The conversion of plasminogen to plasmin involves the cleavage of the peptide bond between Arg-561 and Val-562. Plasmin cleavage also releases the angiostatin protein which inhibits angiogenesis. Plasmin degrades many blood plasma proteins, including fibrin-containing blood clots. As a serine protease, plasmin cleaves many products in addition to fibrin such as fibronectin, thrombospondin, laminin, and von Willebrand factor. Plasmin is inactivated by proteins such as alpha-2-macroglobulin and alpha-2-antiplasmin in addition to inhibitors of the various plasminogen activators. Plasminogen also interacts with plasminogen receptors which results in the retention of plasmin on cell surfaces and in plasmin-induced cell signaling. The localization of plasminogen on cell surfaces plays a role in the degradation of extracellular matrices, cell migration, inflamation, wound healing, oncogenesis, metastasis, myogenesis, muscle regeneration, neurite outgrowth, and fibrinolysis. This protein may also play a role in acute respiratory distress syndrome (ARDS) which, in part, is caused by enhanced clot formation and the suppression of fibrinolysis. Compared to other mammals, the cluster of plasminogen-like genes to which this gene belongs has been rearranged in catarrhine primates. [provided by RefSeq, May 2020]. 5340 GO:0072562, GO:0070062, GO:0062023, GO:0043231, GO:0031232, GO:0031093, GO:0009986, GO:0005886, GO:0005615, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, extrinsic component of external side of plasma membrane, platelet alpha granule lumen, cell surface, plasma membrane, extracellular space, extracellular space, extracellular region, GO:1990405, GO:0051087, GO:0034185, GO:0019904, GO:0019900, GO:0019899, GO:0008236, GO:0005515, GO:0005102, GO:0004252, GO:0004252, GO:0004252, GO:0004175, protein antigen binding, chaperone binding, apolipoprotein binding, protein domain specific binding, kinase binding, enzyme binding, serine-type peptidase activity, protein binding, signaling receptor binding, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, endopeptidase activity, GO:2000048, GO:0071674, GO:0060716, GO:0060707, GO:0051919, GO:0051918, GO:0051702, GO:0051603, GO:0048771, GO:0046716, GO:0045445, GO:0044267, GO:0042730, GO:0042730, GO:0042246, GO:0022617, GO:0022617, GO:0010812, GO:0008285, GO:0007596, GO:0006508, GO:0006508, GO:0002576, negative regulation of cell-cell adhesion mediated by cadherin, mononuclear cell migration, labyrinthine layer blood vessel development, trophoblast giant cell differentiation, positive regulation of fibrinolysis, negative regulation of fibrinolysis, biological process involved in interaction with symbiont, proteolysis involved in cellular protein catabolic process, tissue remodeling, muscle cell cellular homeostasis, myoblast differentiation, cellular protein metabolic process, fibrinolysis, fibrinolysis, tissue regeneration, extracellular matrix disassembly, extracellular matrix disassembly, negative regulation of cell-substrate adhesion, negative regulation of cell population proliferation, blood coagulation, proteolysis, proteolysis, platelet degranulation, 0 0 0 0 0 0 0 0 0 ENSG00000122203 chr5 176346061 176361968 - KIAA1191 protein_coding 57179 GO:0005737, GO:0005737, GO:0005575, cytoplasm, cytoplasm, cellular_component, GO:0016491, GO:0005515, GO:0003674, oxidoreductase activity, protein binding, molecular_function, GO:0055114, GO:0008150, oxidation-reduction process, biological_process, 92 72 183 198 109 202 162 108 150 ENSG00000122218 chr1 160288686 160343400 - COPA protein_coding In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 1314 GO:0070062, GO:0030426, GO:0030133, GO:0030126, GO:0030126, GO:0030126, GO:0016020, GO:0005829, GO:0005789, GO:0005737, GO:0005615, GO:0000139, extracellular exosome, growth cone, transport vesicle, COPI vesicle coat, COPI vesicle coat, COPI vesicle coat, membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, extracellular space, Golgi membrane, GO:0005515, GO:0005198, GO:0005179, GO:0003729, protein binding, structural molecule activity, hormone activity, mRNA binding, GO:1902463, GO:0099612, GO:0030157, GO:0007165, GO:0006891, GO:0006890, GO:0006890, GO:0006888, GO:0006888, GO:0006886, protein localization to cell leading edge, protein localization to axon, pancreatic juice secretion, signal transduction, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 1894 2176 3328 1125 1641 1718 1264 1054 1189 ENSG00000122223 chr1 160830160 160862855 - CD244 protein_coding This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 51744 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0042288, GO:0038023, GO:0005515, MHC class I protein binding, signaling receptor activity, protein binding, GO:0071663, GO:0060732, GO:0050900, GO:0045087, GO:0032757, GO:0032729, GO:0007165, GO:0002323, GO:0002250, positive regulation of granzyme B production, positive regulation of inositol phosphate biosynthetic process, leukocyte migration, innate immune response, positive regulation of interleukin-8 production, positive regulation of interferon-gamma production, signal transduction, natural killer cell activation involved in immune response, adaptive immune response, 28 32 89 86 46 122 55 41 85 ENSG00000122224 chr1 160796074 160828261 + LY9 protein_coding LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM, Mar 2008]. 4063 GO:0016021, GO:0009986, GO:0005886, integral component of membrane, cell surface, plasma membrane, GO:0003674, molecular_function, GO:0072540, GO:0045087, GO:0032740, GO:0007155, T-helper 17 cell lineage commitment, innate immune response, positive regulation of interleukin-17 production, cell adhesion, 40 39 51 206 102 222 173 107 113 ENSG00000122254 chr16 22814177 22916338 + HS3ST2 protein_coding Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008]. 9956 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0033871, GO:0008467, GO:0008146, [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, sulfotransferase activity, GO:0007623, GO:0006024, circadian rhythm, glycosaminoglycan biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000122257 chr16 24537693 24572863 + RBBP6 protein_coding The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5930 GO:0032991, GO:0016607, GO:0005829, GO:0005813, GO:0005730, GO:0005694, protein-containing complex, nuclear speck, cytosol, centrosome, nucleolus, chromosome, GO:0061630, GO:0019901, GO:0008270, GO:0005515, GO:0004842, GO:0003723, ubiquitin protein ligase activity, protein kinase binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, RNA binding, GO:0061053, GO:0048568, GO:0035264, GO:0006974, GO:0006511, GO:0006511, GO:0006397, GO:0006275, GO:0006260, GO:0001701, GO:0000209, somite development, embryonic organ development, multicellular organism growth, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, mRNA processing, regulation of DNA replication, DNA replication, in utero embryonic development, protein polyubiquitination, 1189 1257 1351 4293 4145 5544 3938 2979 3776 ENSG00000122299 chr16 11750586 11797267 - ZC3H7A protein_coding 29066 GO:0005634, nucleus, GO:0046872, GO:0035198, GO:0035198, GO:0003723, metal ion binding, miRNA binding, miRNA binding, RNA binding, GO:0035196, GO:0035196, GO:0010608, production of miRNAs involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, posttranscriptional regulation of gene expression, 789 750 1109 467 495 478 356 383 380 ENSG00000122304 chr16 11275639 11276480 - PRM2 protein_coding Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015]. 5620 GO:0005654, GO:0005634, GO:0005634, GO:0000786, nucleoplasm, nucleus, nucleus, nucleosome, GO:0046870, GO:0008270, GO:0005515, GO:0003677, cadmium ion binding, zinc ion binding, protein binding, DNA binding, GO:0030261, GO:0007286, GO:0007283, GO:0007275, GO:0006997, GO:0006323, chromosome condensation, spermatid development, spermatogenesis, multicellular organism development, nucleus organization, DNA packaging, 0 0 0 0 0 0 0 0 0 ENSG00000122335 chr6 158109515 158168280 - SERAC1 protein_coding The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]. 84947 GO:0044233, GO:0031012, GO:0016021, GO:0005783, GO:0005739, mitochondria-associated endoplasmic reticulum membrane, extracellular matrix, integral component of membrane, endoplasmic reticulum, mitochondrion, GO:0003674, molecular_function, GO:0036148, GO:0032367, GO:0030198, GO:0008654, phosphatidylglycerol acyl-chain remodeling, intracellular cholesterol transport, extracellular matrix organization, phospholipid biosynthetic process, 49 45 63 32 40 32 50 40 41 ENSG00000122359 chr10 80150889 80205572 - ANXA11 protein_coding This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]. 311 GO:0070062, GO:0062023, GO:0045335, GO:0042582, GO:0042581, GO:0042470, GO:0030496, GO:0016020, GO:0005829, GO:0005819, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005635, GO:0005635, extracellular exosome, collagen-containing extracellular matrix, phagocytic vesicle, azurophil granule, specific granule, melanosome, midbody, membrane, cytosol, spindle, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nuclear envelope, nuclear envelope, GO:0048306, GO:0044548, GO:0023026, GO:0008429, GO:0005544, GO:0005515, GO:0005509, GO:0003723, calcium-dependent protein binding, S100 protein binding, MHC class II protein complex binding, phosphatidylethanolamine binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, RNA binding, GO:0051592, GO:0032506, GO:0032506, GO:0006909, GO:0006909, response to calcium ion, cytokinetic process, cytokinetic process, phagocytosis, phagocytosis, 4957 5524 6162 2180 4178 3222 2815 3586 3165 ENSG00000122367 chr10 86668449 86736068 + LDB3 protein_coding This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]. 11155 GO:0048471, GO:0031941, GO:0031143, GO:0030018, GO:0030018, GO:0005912, GO:0005856, GO:0001725, perinuclear region of cytoplasm, filamentous actin, pseudopodium, Z disc, Z disc, adherens junction, cytoskeleton, stress fiber, GO:0051371, GO:0046872, GO:0008092, GO:0005515, GO:0005080, GO:0003779, muscle alpha-actinin binding, metal ion binding, cytoskeletal protein binding, protein binding, protein kinase C binding, actin binding, GO:0061061, GO:0045214, GO:0030036, GO:0007507, muscle structure development, sarcomere organization, actin cytoskeleton organization, heart development, 0 1 0 5 0 1 0 1 0 ENSG00000122375 chr10 86654557 86666848 + OPN4 protein_coding Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 94233 GO:0097381, GO:0043204, GO:0030425, GO:0030424, GO:0016021, GO:0005887, GO:0005886, photoreceptor disc membrane, perikaryon, dendrite, axon, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0008020, GO:0008020, GO:0005515, GO:0005502, G protein-coupled photoreceptor activity, G protein-coupled photoreceptor activity, protein binding, 11-cis retinal binding, GO:1990384, GO:0071482, GO:0048511, GO:0042752, GO:0018298, GO:0009584, GO:0007634, GO:0007602, GO:0007602, GO:0007601, GO:0007186, GO:0007186, hyaloid vascular plexus regression, cellular response to light stimulus, rhythmic process, regulation of circadian rhythm, protein-chromophore linkage, detection of visible light, optokinetic behavior, phototransduction, phototransduction, visual perception, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000122376 chr10 87094161 87191468 + SHLD2 protein_coding 54537 GO:0035861, GO:0035861, GO:0005694, GO:0005634, GO:0005634, site of double-strand break, site of double-strand break, chromosome, nucleus, nucleus, GO:0005515, protein binding, GO:2001034, GO:2000042, GO:0045830, GO:0010569, GO:0006281, positive regulation of double-strand break repair via nonhomologous end joining, negative regulation of double-strand break repair via homologous recombination, positive regulation of isotype switching, regulation of double-strand break repair via homologous recombination, DNA repair, 83 59 114 140 68 144 92 49 79 ENSG00000122378 chr10 80407829 80437115 + PRXL2A protein_coding 84293 GO:0005737, GO:0005737, GO:0005576, cytoplasm, cytoplasm, extracellular region, GO:0016209, GO:0016209, antioxidant activity, antioxidant activity, GO:0098869, GO:0055114, GO:0055114, GO:0045670, cellular oxidant detoxification, oxidation-reduction process, oxidation-reduction process, regulation of osteoclast differentiation, 2 2 7 9 8 0 17 6 7 ENSG00000122386 chr16 3112560 3120517 + ZNF205 protein_coding 7755 GO:0005739, GO:0000785, mitochondrion, chromatin, GO:0008270, GO:0005515, GO:0001227, GO:0000981, GO:0000978, zinc ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901030, GO:0010729, GO:0006357, GO:0006355, GO:0000122, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, positive regulation of hydrogen peroxide biosynthetic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 2 10 1 2 2 9 0 4 9 ENSG00000122390 chr16 3443611 3486963 + NAA60 protein_coding This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015]. 79903 GO:0000139, GO:0000139, Golgi membrane, Golgi membrane, GO:0042803, GO:0010485, GO:0005515, GO:0004596, GO:0004596, GO:0004402, protein homodimerization activity, H4 histone acetyltransferase activity, protein binding, peptide alpha-N-acetyltransferase activity, peptide alpha-N-acetyltransferase activity, histone acetyltransferase activity, GO:0043967, GO:0043967, GO:0043966, GO:0017196, GO:0017196, GO:0008283, GO:0007059, GO:0006474, GO:0006334, histone H4 acetylation, histone H4 acetylation, histone H3 acetylation, N-terminal peptidyl-methionine acetylation, N-terminal peptidyl-methionine acetylation, cell population proliferation, chromosome segregation, N-terminal protein amino acid acetylation, nucleosome assembly, 322 471 360 232 379 194 208 326 238 ENSG00000122406 chr1 92831983 92841924 + RPL5 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]. 6125 GO:1990904, GO:0070062, GO:0032991, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005634, ribonucleoprotein complex, extracellular exosome, protein-containing complex, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleus, GO:1990948, GO:0048027, GO:0031625, GO:0008097, GO:0008097, GO:0005515, GO:0003735, GO:0003730, GO:0003723, ubiquitin ligase inhibitor activity, mRNA 5'-UTR binding, ubiquitin protein ligase binding, 5S rRNA binding, 5S rRNA binding, protein binding, structural constituent of ribosome, mRNA 3'-UTR binding, RNA binding, GO:2000435, GO:2000059, GO:1904667, GO:1901796, GO:0050821, GO:0045727, GO:0042273, GO:0019083, GO:0010628, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0000184, GO:0000027, GO:0000027, negative regulation of protein neddylation, negative regulation of ubiquitin-dependent protein catabolic process, negative regulation of ubiquitin protein ligase activity, regulation of signal transduction by p53 class mediator, protein stabilization, positive regulation of translation, ribosomal large subunit biogenesis, viral transcription, positive regulation of gene expression, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal large subunit assembly, ribosomal large subunit assembly, 723 395 1200 2195 947 2396 1576 800 1705 ENSG00000122417 chr1 86346824 86396342 - ODF2L protein_coding 57489 GO:0036064, GO:0034451, GO:0005814, GO:0005813, GO:0005737, ciliary basal body, centriolar satellite, centriole, centrosome, cytoplasm, GO:1902018, GO:0030030, negative regulation of cilium assembly, cell projection organization, 198 233 339 317 208 358 276 149 326 ENSG00000122420 chr1 78303884 78539749 + PTGFR protein_coding The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5737 GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005576, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, extracellular region, GO:0004958, GO:0004958, prostaglandin F receptor activity, prostaglandin F receptor activity, GO:0071799, GO:0043066, GO:0035584, GO:0032496, GO:0032355, GO:0010628, GO:0008284, GO:0007567, GO:0007204, GO:0007189, GO:0007186, GO:0006954, cellular response to prostaglandin D stimulus, negative regulation of apoptotic process, calcium-mediated signaling using intracellular calcium source, response to lipopolysaccharide, response to estradiol, positive regulation of gene expression, positive regulation of cell population proliferation, parturition, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000122432 chr1 84506300 84566194 + SPATA1 protein_coding 100505741 1810 1416 1918 421 752 681 700 729 552 ENSG00000122435 chr1 100133150 100150497 + TRMT13 protein_coding 54482 GO:0106050, GO:0046872, GO:0008175, tRNA 2'-O-methyltransferase activity, metal ion binding, tRNA methyltransferase activity, GO:0030488, tRNA methylation, 41 28 64 85 33 89 57 35 87 ENSG00000122477 chr1 100148449 100178273 - LRRC39 protein_coding 127495 GO:0043231, GO:0031430, GO:0005737, intracellular membrane-bounded organelle, M band, cytoplasm, GO:0005515, GO:0004722, protein binding, protein serine/threonine phosphatase activity, GO:0007165, GO:0006470, signal transduction, protein dephosphorylation, 16 12 17 30 14 37 19 11 38 ENSG00000122481 chr1 95234155 95247225 + RWDD3 protein_coding 25950 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:1902073, GO:0033235, GO:0033235, GO:0032088, positive regulation of hypoxia-inducible factor-1alpha signaling pathway, positive regulation of protein sumoylation, positive regulation of protein sumoylation, negative regulation of NF-kappaB transcription factor activity, 6 5 1 3 7 6 4 2 2 ENSG00000122482 chr1 90915298 91022272 - ZNF644 protein_coding The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 84146 GO:0005634, nucleus, GO:0046872, GO:0001226, GO:0000981, GO:0000981, GO:0000978, GO:0000978, metal ion binding, RNA polymerase II transcription corepressor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 252 188 348 301 176 350 262 135 173 ENSG00000122483 chr1 93179919 93278730 + CCDC18 protein_coding 343099 345 267 483 188 171 326 227 170 265 ENSG00000122484 chr1 92298965 92402056 + RPAP2 protein_coding 79871 GO:0016591, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, RNA polymerase II, holoenzyme, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0106307, GO:0106306, GO:0046872, GO:0043175, GO:0008420, GO:0008420, GO:0005515, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, RNA polymerase core enzyme binding, RNA polymerase II CTD heptapeptide repeat phosphatase activity, RNA polymerase II CTD heptapeptide repeat phosphatase activity, protein binding, protein serine/threonine phosphatase activity, GO:0070940, GO:0070940, GO:0042795, GO:0009301, dephosphorylation of RNA polymerase II C-terminal domain, dephosphorylation of RNA polymerase II C-terminal domain, snRNA transcription by RNA polymerase II, snRNA transcription, 35 18 50 88 48 99 89 24 47 ENSG00000122490 chr18 79902420 79951664 - PQLC1 protein_coding 80148 GO:0016021, GO:0005829, GO:0005802, GO:0005768, integral component of membrane, cytosol, trans-Golgi network, endosome, GO:0005515, protein binding, GO:0045332, GO:0042147, phospholipid translocation, retrograde transport, endosome to Golgi, 932 865 1100 176 412 386 281 419 284 ENSG00000122507 chr7 33129244 33606068 + BBS9 protein_coding This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]. 27241 GO:0060170, GO:0035869, GO:0034464, GO:0034464, GO:0034451, GO:0016020, GO:0005929, GO:0005829, GO:0000242, ciliary membrane, ciliary transition zone, BBSome, BBSome, centriolar satellite, membrane, cilium, cytosol, pericentriolar material, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0061512, GO:0060271, GO:0050896, GO:0045444, GO:0015031, GO:0007601, protein localization to cilium, cilium assembly, response to stimulus, fat cell differentiation, protein transport, visual perception, 50 50 42 66 51 37 52 40 38 ENSG00000122512 chr7 5973239 6009125 - PMS2 protein_coding The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]. 5395 GO:0036464, GO:0032389, GO:0032300, GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytoplasmic ribonucleoprotein granule, MutLalpha complex, mismatch repair complex, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0032407, GO:0032138, GO:0016887, GO:0005524, GO:0005515, GO:0004519, GO:0003697, GO:0003677, MutSalpha complex binding, single base insertion or deletion binding, ATPase activity, ATP binding, protein binding, endonuclease activity, single-stranded DNA binding, DNA binding, GO:0090305, GO:0042493, GO:0016446, GO:0006298, GO:0006298, GO:0006298, GO:0006298, nucleic acid phosphodiester bond hydrolysis, response to drug, somatic hypermutation of immunoglobulin genes, mismatch repair, mismatch repair, mismatch repair, mismatch repair, 78 52 45 95 84 62 77 40 69 ENSG00000122515 chr7 44748581 44769881 + ZMIZ2 protein_coding ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]. 83637 GO:0043596, GO:0005739, GO:0005654, GO:0005634, GO:0000785, nuclear replication fork, mitochondrion, nucleoplasm, nucleus, chromatin, GO:0030374, GO:0030374, GO:0008270, GO:0005515, nuclear receptor coactivator activity, nuclear receptor coactivator activity, zinc ion binding, protein binding, GO:0060395, GO:0048096, GO:0045944, GO:0007179, GO:0006357, SMAD protein signal transduction, chromatin-mediated maintenance of transcription, positive regulation of transcription by RNA polymerase II, transforming growth factor beta receptor signaling pathway, regulation of transcription by RNA polymerase II, 318 403 445 347 403 483 375 320 399 ENSG00000122543 chr7 5879827 5886362 + OCM protein_coding Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008]. 654231 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0005509, GO:0005509, protein binding, calcium ion binding, calcium ion binding, 4 4 6 3 5 9 1 5 5 ENSG00000122545 chr7 35800932 35907105 + SEPT7 protein_coding This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]. 989 GO:0097730, GO:0097227, GO:0070062, GO:0032154, GO:0032153, GO:0031105, GO:0031105, GO:0030496, GO:0016324, GO:0015630, GO:0005940, GO:0005930, GO:0005930, GO:0005829, GO:0005819, GO:0005634, GO:0001725, GO:0000777, non-motile cilium, sperm annulus, extracellular exosome, cleavage furrow, cell division site, septin complex, septin complex, midbody, apical plasma membrane, microtubule cytoskeleton, septin ring, axoneme, axoneme, cytosol, spindle, nucleus, stress fiber, condensed chromosome kinetochore, GO:0060090, GO:0045296, GO:0042802, GO:0005525, GO:0005515, GO:0005198, GO:0003924, molecular adaptor activity, cadherin binding, identical protein binding, GTP binding, protein binding, structural molecule activity, GTPase activity, GO:1902857, GO:0061640, GO:0060271, GO:0060271, GO:0034613, GO:0030154, GO:0016476, GO:0007283, positive regulation of non-motile cilium assembly, cytoskeleton-dependent cytokinesis, cilium assembly, cilium assembly, cellular protein localization, cell differentiation, regulation of embryonic cell shape, spermatogenesis, 2339 1992 2597 1232 1730 1642 1351 1465 1510 ENSG00000122547 chr7 36153149 36301543 + EEPD1 protein_coding 80820 GO:0046658, anchored component of plasma membrane, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0010875, GO:0006281, positive regulation of cholesterol efflux, DNA repair, 639 781 891 600 787 787 682 502 652 ENSG00000122548 chr7 26533121 26538788 - KIAA0087 lincRNA 9808 1 1 0 0 0 0 0 0 1 ENSG00000122550 chr7 23105758 23177914 + KLHL7 protein_coding This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]. 55975 GO:0048471, GO:0031463, GO:0005886, GO:0005829, GO:0005730, GO:0005654, perinuclear region of cytoplasm, Cul3-RING ubiquitin ligase complex, plasma membrane, cytosol, nucleolus, nucleoplasm, GO:0042803, GO:0042802, GO:0005515, protein homodimerization activity, identical protein binding, protein binding, GO:0016567, GO:0016567, protein ubiquitination, protein ubiquitination, 96 60 120 80 96 119 74 66 94 ENSG00000122557 chr7 35632659 35695571 - HERPUD2 protein_coding 64224 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0030968, GO:0007283, endoplasmic reticulum unfolded protein response, spermatogenesis, 1079 975 1187 598 792 659 658 626 643 ENSG00000122565 chr7 26201162 26213356 + CBX3 protein_coding At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011]. 11335 GO:0090734, GO:0090575, GO:0005819, GO:0005721, GO:0005654, GO:0005637, GO:0005635, GO:0005634, GO:0000792, GO:0000791, GO:0000785, GO:0000781, GO:0000779, GO:0000775, site of DNA damage, RNA polymerase II transcription regulator complex, spindle, pericentric heterochromatin, nucleoplasm, nuclear inner membrane, nuclear envelope, nucleus, heterochromatin, euchromatin, chromatin, chromosome, telomeric region, condensed chromosome, centromeric region, chromosome, centromeric region, GO:1990226, GO:0042802, GO:0019904, GO:0019899, GO:0008134, GO:0005515, histone methyltransferase binding, identical protein binding, protein domain specific binding, enzyme binding, transcription factor binding, protein binding, GO:0070317, GO:0048511, GO:0045892, GO:0045892, GO:0006974, GO:0006338, negative regulation of G0 to G1 transition, rhythmic process, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, cellular response to DNA damage stimulus, chromatin remodeling, 1000 760 1051 513 568 656 603 523 547 ENSG00000122566 chr7 26173057 26201529 - HNRNPA2B1 protein_coding This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008]. 3181 GO:1990904, GO:0071013, GO:0070062, GO:0070062, GO:0016363, GO:0016020, GO:0015030, GO:0005737, GO:0005681, GO:0005654, GO:0005654, GO:0005634, GO:0000781, ribonucleoprotein complex, catalytic step 2 spliceosome, extracellular exosome, extracellular exosome, nuclear matrix, membrane, Cajal body, cytoplasm, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:1990247, GO:0098505, GO:0097157, GO:0043047, GO:0035198, GO:0005515, GO:0003730, GO:0003723, GO:0003723, N6-methyladenosine-containing RNA binding, G-rich strand telomeric DNA binding, pre-mRNA intronic binding, single-stranded telomeric DNA binding, miRNA binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA binding, GO:1990428, GO:1905663, GO:1904358, GO:0050658, GO:0048025, GO:0044806, GO:0035722, GO:0031053, GO:0016070, GO:0016032, GO:0006406, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000122, miRNA transport, positive regulation of telomerase RNA reverse transcriptase activity, positive regulation of telomere maintenance via telomere lengthening, RNA transport, negative regulation of mRNA splicing, via spliceosome, G-quadruplex DNA unwinding, interleukin-12-mediated signaling pathway, primary miRNA processing, RNA metabolic process, viral process, mRNA export from nucleus, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, 6171 6727 9012 25752 38663 41688 24587 22711 30018 ENSG00000122574 chr7 29806486 29917066 + WIPF3 protein_coding 644150 GO:0005884, GO:0005829, actin filament, cytosol, GO:0017124, GO:0003779, SH3 domain binding, actin binding, GO:0038096, GO:0030154, GO:0030048, GO:0007283, GO:0007275, Fc-gamma receptor signaling pathway involved in phagocytosis, cell differentiation, actin filament-based movement, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000122584 chr7 8433955 8752963 + NXPH1 protein_coding This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]. 30010 GO:0005576, extracellular region, GO:0005102, signaling receptor binding, 0 0 0 0 0 0 0 0 0 ENSG00000122585 chr7 24284163 24291865 + NPY protein_coding This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]. 4852 GO:0098992, GO:0045202, GO:0005794, GO:0005615, GO:0005615, GO:0005576, neuronal dense core vesicle, synapse, Golgi apparatus, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0005246, GO:0005184, GO:0005179, GO:0005102, GO:0004930, GO:0001664, protein binding, calcium channel regulator activity, neuropeptide hormone activity, hormone activity, signaling receptor binding, G protein-coupled receptor activity, G protein-coupled receptor binding, GO:0060575, GO:0032100, GO:0031175, GO:0021987, GO:0021954, GO:0008343, GO:0008217, GO:0007631, GO:0007268, GO:0007218, GO:0007187, GO:0007186, intestinal epithelial cell differentiation, positive regulation of appetite, neuron projection development, cerebral cortex development, central nervous system neuron development, adult feeding behavior, regulation of blood pressure, feeding behavior, chemical synaptic transmission, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000122591 chr7 22889371 23014130 - FAM126A protein_coding The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]. 84668 GO:0043005, GO:0005886, GO:0005886, GO:0005829, neuron projection, plasma membrane, plasma membrane, cytosol, GO:0005515, protein binding, GO:0072659, GO:0072659, GO:0046854, GO:0046854, GO:0042552, protein localization to plasma membrane, protein localization to plasma membrane, phosphatidylinositol phosphorylation, phosphatidylinositol phosphorylation, myelination, 143 94 129 107 88 125 155 68 57 ENSG00000122592 chr7 27153716 27157936 - HOXA7 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008]. 3204 GO:0031965, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear membrane, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0008134, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048863, GO:0048704, GO:0045944, GO:0045892, GO:0045656, GO:0045617, GO:0009952, GO:0006357, GO:0002686, GO:0001953, GO:0001525, GO:0000122, stem cell differentiation, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of monocyte differentiation, negative regulation of keratinocyte differentiation, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, negative regulation of leukocyte migration, negative regulation of cell-matrix adhesion, angiogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 2 0 0 0 0 ENSG00000122641 chr7 41667168 41705834 - INHBA protein_coding This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. The encoded protein also plays a role in eye, tooth and testis development. Elevated expression of this gene may be associated with cancer cachexia in human patients. [provided by RefSeq, Aug 2016]. 3624 GO:0048471, GO:0043512, GO:0043509, GO:0005615, GO:0005576, GO:0005576, perinuclear region of cytoplasm, inhibin A complex, activin A complex, extracellular space, extracellular region, extracellular region, GO:0070699, GO:0044877, GO:0042802, GO:0034711, GO:0017046, GO:0008083, GO:0005515, GO:0005179, GO:0005125, GO:0005125, type II activin receptor binding, protein-containing complex binding, identical protein binding, inhibin binding, peptide hormone binding, growth factor activity, protein binding, hormone activity, cytokine activity, cytokine activity, GO:2001241, GO:0097191, GO:0097154, GO:0071397, GO:0071372, GO:0061029, GO:0060395, GO:0060279, GO:0060021, GO:0048333, GO:0046882, GO:0046881, GO:0046880, GO:0045944, GO:0045893, GO:0045786, GO:0045650, GO:0045648, GO:0045578, GO:0042701, GO:0042541, GO:0042493, GO:0042476, GO:0042326, GO:0035987, GO:0032924, GO:0032689, GO:0032270, GO:0030308, GO:0030218, GO:0030154, GO:0021773, GO:0010862, GO:0010862, GO:0010628, GO:0009611, GO:0008584, GO:0008285, GO:0007399, GO:0007267, GO:0007166, GO:0007050, GO:0006952, GO:0006357, GO:0002244, GO:0001942, GO:0001541, GO:0001541, GO:0000082, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway, GABAergic neuron differentiation, cellular response to cholesterol, cellular response to follicle-stimulating hormone stimulus, eyelid development in camera-type eye, SMAD protein signal transduction, positive regulation of ovulation, roof of mouth development, mesodermal cell differentiation, negative regulation of follicle-stimulating hormone secretion, positive regulation of follicle-stimulating hormone secretion, regulation of follicle-stimulating hormone secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of cell cycle, negative regulation of macrophage differentiation, positive regulation of erythrocyte differentiation, negative regulation of B cell differentiation, progesterone secretion, hemoglobin biosynthetic process, response to drug, odontogenesis, negative regulation of phosphorylation, endodermal cell differentiation, activin receptor signaling pathway, negative regulation of interferon-gamma production, positive regulation of cellular protein metabolic process, negative regulation of cell growth, erythrocyte differentiation, cell differentiation, striatal medium spiny neuron differentiation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of gene expression, response to wounding, male gonad development, negative regulation of cell population proliferation, nervous system development, cell-cell signaling, cell surface receptor signaling pathway, cell cycle arrest, defense response, regulation of transcription by RNA polymerase II, hematopoietic progenitor cell differentiation, hair follicle development, ovarian follicle development, ovarian follicle development, G1/S transition of mitotic cell cycle, 1 11 10 24 7 30 43 7 16 ENSG00000122642 chr7 32957404 33006931 + FKBP9 protein_coding 11328 GO:0005783, endoplasmic reticulum, GO:0005509, GO:0003755, calcium ion binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 35 42 35 32 36 27 38 19 16 ENSG00000122643 chr7 33014113 33062797 - NT5C3A protein_coding This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]. 51251 GO:0005829, GO:0005783, GO:0005737, GO:0005737, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, GO:0008253, GO:0008253, GO:0008253, GO:0005515, GO:0000287, GO:0000215, GO:0000215, GO:0000166, 5'-nucleotidase activity, 5'-nucleotidase activity, 5'-nucleotidase activity, protein binding, magnesium ion binding, tRNA 2'-phosphotransferase activity, tRNA 2'-phosphotransferase activity, nucleotide binding, GO:0051607, GO:0046135, GO:0016311, GO:0009117, GO:0006213, defense response to virus, pyrimidine nucleoside catabolic process, dephosphorylation, nucleotide metabolic process, pyrimidine nucleoside metabolic process, 253 221 284 258 389 461 281 317 345 ENSG00000122644 chr7 12686856 12690934 + ARL4A protein_coding ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 10124 GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0005525, GO:0005525, GO:0005515, GTP binding, GTP binding, protein binding, GO:0050873, GO:0016192, GO:0006886, brown fat cell differentiation, vesicle-mediated transport, intracellular protein transport, 29 30 52 239 206 223 244 159 225 ENSG00000122674 chr7 5898725 5926550 + CCZ1 protein_coding 51622 GO:0043231, GO:0043231, GO:0035658, GO:0005829, GO:0005765, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, Mon1-Ccz1 complex, cytosol, lysosomal membrane, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0016192, vesicle-mediated transport, 58 53 106 105 102 185 122 84 166 ENSG00000122678 chr7 44072247 44082540 - POLM protein_coding 27434 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003887, GO:0003887, GO:0003677, metal ion binding, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA binding, GO:0071897, GO:0030183, GO:0016446, GO:0006310, GO:0006303, GO:0006303, DNA biosynthetic process, B cell differentiation, somatic hypermutation of immunoglobulin genes, DNA recombination, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, 405 433 464 394 515 451 426 458 402 ENSG00000122679 chr7 45157791 45186302 + RAMP3 protein_coding The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]. 10268 GO:1903143, GO:0150058, GO:0043235, GO:0043235, GO:0009986, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005764, adrenomedullin receptor complex, amylin receptor complex 3, receptor complex, receptor complex, cell surface, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, lysosome, GO:0097643, GO:0015026, GO:0005515, GO:0001605, GO:0001540, amylin receptor activity, coreceptor activity, protein binding, adrenomedullin receptor activity, amyloid-beta binding, GO:1990410, GO:1905665, GO:1904645, GO:1903078, GO:0097647, GO:0086103, GO:0072659, GO:0072659, GO:0071392, GO:0070374, GO:0051897, GO:0038041, GO:0033138, GO:0032870, GO:0031623, GO:0031623, GO:0015031, GO:0015031, GO:0010942, GO:0010739, GO:0010628, GO:0007189, GO:0007189, GO:0007186, GO:0007186, GO:0006886, GO:0006816, GO:0006816, GO:0001921, GO:0001525, adrenomedullin receptor signaling pathway, positive regulation of calcium ion import across plasma membrane, response to amyloid-beta, positive regulation of protein localization to plasma membrane, amylin receptor signaling pathway, G protein-coupled receptor signaling pathway involved in heart process, protein localization to plasma membrane, protein localization to plasma membrane, cellular response to estradiol stimulus, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, cross-receptor inhibition within G protein-coupled receptor heterodimer, positive regulation of peptidyl-serine phosphorylation, cellular response to hormone stimulus, receptor internalization, receptor internalization, protein transport, protein transport, positive regulation of cell death, positive regulation of protein kinase A signaling, positive regulation of gene expression, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, intracellular protein transport, calcium ion transport, calcium ion transport, positive regulation of receptor recycling, angiogenesis, 6 15 10 13 21 27 16 11 29 ENSG00000122687 chr7 2234231 2242198 - MRM2 protein_coding The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008]. 29960 GO:0005759, GO:0005739, GO:0005739, GO:0005730, mitochondrial matrix, mitochondrion, mitochondrion, nucleolus, GO:0008650, GO:0008650, GO:0008650, GO:0008173, rRNA (uridine-2'-O-)-methyltransferase activity, rRNA (uridine-2'-O-)-methyltransferase activity, rRNA (uridine-2'-O-)-methyltransferase activity, RNA methyltransferase activity, GO:0031167, GO:0006364, GO:0001510, GO:0000451, rRNA methylation, rRNA processing, RNA methylation, rRNA 2'-O-methylation, 15 12 13 17 10 4 18 15 22 ENSG00000122691 chr7 19020991 19117672 - TWIST1 protein_coding This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]. 7291 GO:0005654, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, GO:0070888, GO:0043425, GO:0042803, GO:0019904, GO:0008134, GO:0005515, GO:0000981, GO:0000981, GO:0000981, GO:0000977, E-box binding, bHLH transcription factor binding, protein homodimerization activity, protein domain specific binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000802, GO:2000793, GO:2000780, GO:2000773, GO:2000679, GO:2000276, GO:2000147, GO:2000147, GO:2000144, GO:0071639, GO:0071456, GO:0071363, GO:0061029, GO:0060900, GO:0060363, GO:0060021, GO:0050679, GO:0048701, GO:0048642, GO:0048511, GO:0045944, GO:0045944, GO:0045892, GO:0045892, GO:0045766, GO:0045668, GO:0043518, GO:0043433, GO:0043066, GO:0042733, GO:0042476, GO:0042473, GO:0035359, GO:0035116, GO:0035115, GO:0035067, GO:0033128, GO:0032760, GO:0032755, GO:0032720, GO:0032502, GO:0032000, GO:0030500, GO:0019221, GO:0014067, GO:0010718, GO:0010628, GO:0007517, GO:0006357, GO:0003253, GO:0003203, GO:0003183, GO:0003180, GO:0001843, GO:0001764, GO:0001701, GO:0001649, GO:0001503, GO:0000122, positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation, cell proliferation involved in heart valve development, negative regulation of double-strand break repair, negative regulation of cellular senescence, positive regulation of transcription regulatory region DNA binding, negative regulation of oxidative phosphorylation uncoupler activity, positive regulation of cell motility, positive regulation of cell motility, positive regulation of DNA-templated transcription, initiation, positive regulation of monocyte chemotactic protein-1 production, cellular response to hypoxia, cellular response to growth factor stimulus, eyelid development in camera-type eye, embryonic camera-type eye formation, cranial suture morphogenesis, roof of mouth development, positive regulation of epithelial cell proliferation, embryonic cranial skeleton morphogenesis, negative regulation of skeletal muscle tissue development, rhythmic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of angiogenesis, negative regulation of osteoblast differentiation, negative regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of DNA-binding transcription factor activity, negative regulation of apoptotic process, embryonic digit morphogenesis, odontogenesis, outer ear morphogenesis, negative regulation of peroxisome proliferator activated receptor signaling pathway, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, negative regulation of histone acetylation, negative regulation of histone phosphorylation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, negative regulation of tumor necrosis factor production, developmental process, positive regulation of fatty acid beta-oxidation, regulation of bone mineralization, cytokine-mediated signaling pathway, negative regulation of phosphatidylinositol 3-kinase signaling, positive regulation of epithelial to mesenchymal transition, positive regulation of gene expression, muscle organ development, regulation of transcription by RNA polymerase II, cardiac neural crest cell migration involved in outflow tract morphogenesis, endocardial cushion morphogenesis, mitral valve morphogenesis, aortic valve morphogenesis, neural tube closure, neuron migration, in utero embryonic development, osteoblast differentiation, ossification, negative regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 0 0 0 ENSG00000122692 chr9 33041764 33076659 - SMU1 protein_coding 55234 GO:0071011, GO:0071005, GO:0016607, GO:0005737, GO:0005634, precatalytic spliceosome, U2-type precatalytic spliceosome, nuclear speck, cytoplasm, nucleus, GO:0005515, protein binding, GO:0016032, GO:0008380, GO:0000398, GO:0000381, viral process, RNA splicing, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 934 885 1329 463 596 611 515 490 442 ENSG00000122694 chr9 36136536 36163913 + GLIPR2 protein_coding 152007 GO:0070062, GO:0005615, GO:0000139, extracellular exosome, extracellular space, Golgi membrane, GO:0042803, protein homodimerization activity, GO:0070374, GO:0010718, GO:0010634, positive regulation of ERK1 and ERK2 cascade, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial cell migration, 3741 3290 4871 1154 2469 1725 1560 2325 1859 ENSG00000122696 chr9 37879400 37904353 - SLC25A51 protein_coding 92014 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0051724, NAD transmembrane transporter activity, GO:1990549, mitochondrial NAD transmembrane transport, 134 123 217 48 56 134 81 69 98 ENSG00000122705 chr9 36190856 36304781 + CLTA protein_coding Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, May 2010]. 1211 GO:0099631, GO:0098835, GO:0071439, GO:0045334, GO:0036020, GO:0032588, GO:0031410, GO:0030672, GO:0030132, GO:0030130, GO:0030125, GO:0030118, GO:0030118, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005819, postsynaptic endocytic zone cytoplasmic component, presynaptic endocytic zone membrane, clathrin complex, clathrin-coated endocytic vesicle, endolysosome membrane, trans-Golgi network membrane, cytoplasmic vesicle, synaptic vesicle membrane, clathrin coat of coated pit, clathrin coat of trans-Golgi network vesicle, clathrin vesicle coat, clathrin coat, clathrin coat, membrane, plasma membrane, plasma membrane, cytosol, spindle, GO:0051020, GO:0044877, GO:0042277, GO:0032050, GO:0032050, GO:0005515, GO:0005198, GO:0003674, GTPase binding, protein-containing complex binding, peptide binding, clathrin heavy chain binding, clathrin heavy chain binding, protein binding, structural molecule activity, molecular_function, GO:0072583, GO:0061024, GO:0051301, GO:0048268, GO:0048268, GO:0034383, GO:0032802, GO:0019886, GO:0007049, GO:0006886, clathrin-dependent endocytosis, membrane organization, cell division, clathrin coat assembly, clathrin coat assembly, low-density lipoprotein particle clearance, low-density lipoprotein particle receptor catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class II, cell cycle, intracellular protein transport, 265 246 238 245 293 271 273 262 197 ENSG00000122707 chr9 36036433 36124451 + RECK protein_coding The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 8434 GO:1990909, GO:0031225, GO:0005886, GO:0005886, GO:0005886, GO:0005576, Wnt signalosome, anchored component of membrane, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:1904928, GO:0017147, GO:0008191, GO:0005515, GO:0004867, GO:0004866, GO:0004866, coreceptor activity involved in canonical Wnt signaling pathway, Wnt-protein binding, metalloendopeptidase inhibitor activity, protein binding, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:1904684, GO:1904684, GO:1904684, GO:0090263, GO:0090210, GO:0060070, GO:0045765, GO:0035115, GO:0030336, GO:0030198, GO:0007566, GO:0002040, GO:0001955, negative regulation of metalloendopeptidase activity, negative regulation of metalloendopeptidase activity, negative regulation of metalloendopeptidase activity, positive regulation of canonical Wnt signaling pathway, regulation of establishment of blood-brain barrier, canonical Wnt signaling pathway, regulation of angiogenesis, embryonic forelimb morphogenesis, negative regulation of cell migration, extracellular matrix organization, embryo implantation, sprouting angiogenesis, blood vessel maturation, 13 6 19 26 19 34 16 17 31 ENSG00000122711 chr9 33218365 33248567 + SPINK4 protein_coding 27290 GO:0005576, extracellular region, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0042493, GO:0010951, response to drug, negative regulation of endopeptidase activity, 1 0 1 6 9 6 1 2 7 ENSG00000122728 chr9 32629454 32635669 - TAF1L protein_coding This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2015]. 138474 GO:0005669, GO:0005654, GO:0005575, GO:0000785, transcription factor TFIID complex, nucleoplasm, cellular_component, chromatin, GO:0070577, GO:0017025, GO:0017025, GO:0016251, GO:0004674, GO:0004402, GO:0003677, lysine-acetylated histone binding, TBP-class protein binding, TBP-class protein binding, RNA polymerase II general transcription initiation factor activity, protein serine/threonine kinase activity, histone acetyltransferase activity, DNA binding, GO:1901796, GO:0051123, GO:0045893, GO:0016573, GO:0007140, GO:0006468, GO:0006367, GO:0006366, GO:0006357, regulation of signal transduction by p53 class mediator, RNA polymerase II preinitiation complex assembly, positive regulation of transcription, DNA-templated, histone acetylation, male meiotic nuclear division, protein phosphorylation, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 2 0 0 0 0 0 1 2 2 ENSG00000122729 chr9 32384603 32454769 + ACO1 protein_coding The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]. 48 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005783, GO:0005739, GO:0005739, GO:0005737, GO:0005737, extracellular exosome, cytosol, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum, mitochondrion, mitochondrion, cytoplasm, cytoplasm, GO:0051539, GO:0051539, GO:0051539, GO:0051538, GO:0051538, GO:0047780, GO:0046872, GO:0030350, GO:0030350, GO:0030350, GO:0005515, GO:0003994, GO:0003994, GO:0003994, GO:0003723, GO:0003723, 4 iron, 4 sulfur cluster binding, 4 iron, 4 sulfur cluster binding, 4 iron, 4 sulfur cluster binding, 3 iron, 4 sulfur cluster binding, 3 iron, 4 sulfur cluster binding, citrate dehydratase activity, metal ion binding, iron-responsive element binding, iron-responsive element binding, iron-responsive element binding, protein binding, aconitate hydratase activity, aconitate hydratase activity, aconitate hydratase activity, RNA binding, RNA binding, GO:0050892, GO:0010040, GO:0009791, GO:0006879, GO:0006417, GO:0006101, GO:0006101, GO:0006101, GO:0006099, intestinal absorption, response to iron(II) ion, post-embryonic development, cellular iron ion homeostasis, regulation of translation, citrate metabolic process, citrate metabolic process, citrate metabolic process, tricarboxylic acid cycle, 205 143 221 183 266 227 295 206 255 ENSG00000122733 chr9 34957608 34982544 + PHF24 protein_coding 23349 GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0050966, GO:0032228, GO:0008277, GO:0007214, detection of mechanical stimulus involved in sensory perception of pain, regulation of synaptic transmission, GABAergic, regulation of G protein-coupled receptor signaling pathway, gamma-aminobutyric acid signaling pathway, 24 59 72 4 32 20 9 37 18 ENSG00000122735 chr9 34457414 34520989 + DNAI1 protein_coding This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 27019 GO:0036157, GO:0036157, GO:0005929, GO:0005874, GO:0005856, outer dynein arm, outer dynein arm, cilium, microtubule, cytoskeleton, GO:0045504, GO:0045503, GO:0005515, GO:0003774, dynein heavy chain binding, dynein light chain binding, protein binding, motor activity, GO:0036158, GO:0036158, GO:0030317, GO:0007368, GO:0007018, GO:0003341, GO:0003341, outer dynein arm assembly, outer dynein arm assembly, flagellated sperm motility, determination of left/right symmetry, microtubule-based movement, cilium movement, cilium movement, 0 1 1 1 12 0 0 0 0 ENSG00000122741 chr9 37800502 37867666 + DCAF10 protein_coding 79269 GO:0080008, GO:0080008, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 260 254 340 209 212 199 205 150 224 ENSG00000122756 chr9 34551432 34590140 - CNTFR protein_coding This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and leukemia inhibitory factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]. 1271 GO:0097059, GO:0097059, GO:0070110, GO:0070110, GO:0043235, GO:0031225, GO:0019898, GO:0016324, GO:0009897, GO:0005886, CNTFR-CLCF1 complex, CNTFR-CLCF1 complex, ciliary neurotrophic factor receptor complex, ciliary neurotrophic factor receptor complex, receptor complex, anchored component of membrane, extrinsic component of membrane, apical plasma membrane, external side of plasma membrane, plasma membrane, GO:0019955, GO:0019955, GO:0005515, GO:0005102, GO:0004897, GO:0004897, GO:0004896, cytokine binding, cytokine binding, protein binding, signaling receptor binding, ciliary neurotrophic factor receptor activity, ciliary neurotrophic factor receptor activity, cytokine receptor activity, GO:0070120, GO:0070120, GO:0060538, GO:0043524, GO:0019221, GO:0019221, GO:0008284, GO:0007548, GO:0007399, GO:0007165, GO:0003360, GO:0001967, ciliary neurotrophic factor-mediated signaling pathway, ciliary neurotrophic factor-mediated signaling pathway, skeletal muscle organ development, negative regulation of neuron apoptotic process, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, sex differentiation, nervous system development, signal transduction, brainstem development, suckling behavior, 0 0 0 0 0 0 0 0 0 ENSG00000122778 chr7 138831381 138981318 - KIAA1549 protein_coding The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. 57670 GO:0032391, GO:0016021, GO:0005886, photoreceptor connecting cilium, integral component of membrane, plasma membrane, 0 0 2 0 1 0 1 0 0 ENSG00000122779 chr7 138460334 138589993 + TRIM24 protein_coding The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 8805 GO:0005829, GO:0005726, GO:0005654, GO:0005634, GO:0000791, GO:0000785, cytosol, perichromatin fibrils, nucleoplasm, nucleus, euchromatin, chromatin, GO:0070577, GO:0061630, GO:0035064, GO:0034056, GO:0016922, GO:0008270, GO:0005515, GO:0005102, GO:0004672, GO:0003713, GO:0003682, GO:0002039, lysine-acetylated histone binding, ubiquitin protein ligase activity, methylated histone binding, estrogen response element binding, nuclear receptor binding, zinc ion binding, protein binding, signaling receptor binding, protein kinase activity, transcription coactivator activity, chromatin binding, p53 binding, GO:1901796, GO:0071391, GO:0070562, GO:0055074, GO:0046777, GO:0045893, GO:0045892, GO:0042981, GO:0031647, GO:0030163, GO:0016567, GO:0016567, GO:0008285, GO:0006366, regulation of signal transduction by p53 class mediator, cellular response to estrogen stimulus, regulation of vitamin D receptor signaling pathway, calcium ion homeostasis, protein autophosphorylation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of apoptotic process, regulation of protein stability, protein catabolic process, protein ubiquitination, protein ubiquitination, negative regulation of cell population proliferation, transcription by RNA polymerase II, 331 434 327 212 376 329 198 335 271 ENSG00000122783 chr7 135092363 135170795 - CYREN protein_coding 78996 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:2001033, GO:0006303, GO:0006303, negative regulation of double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, 1583 1845 1644 817 1275 1005 1527 1295 824 ENSG00000122786 chr7 134744252 134970728 + CALD1 protein_coding This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 800 GO:0030478, GO:0030016, GO:0015629, GO:0005886, GO:0005856, GO:0005829, actin cap, myofibril, actin cytoskeleton, plasma membrane, cytoskeleton, cytosol, GO:0045296, GO:0017022, GO:0005523, GO:0005516, GO:0005515, GO:0003779, cadherin binding, myosin binding, tropomyosin binding, calmodulin binding, protein binding, actin binding, GO:0006936, muscle contraction, 2 0 0 0 0 2 0 2 0 ENSG00000122787 chr7 138002324 138117986 + AKR1D1 protein_coding The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]. 6718 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0047787, GO:0047086, GO:0016229, GO:0005496, GO:0004033, GO:0004032, delta4-3-oxosteroid 5beta-reductase activity, ketosteroid monooxygenase activity, steroid dehydrogenase activity, steroid binding, aldo-keto reductase (NADP) activity, alditol:NADP+ 1-oxidoreductase activity, GO:0055114, GO:0030573, GO:0008209, GO:0008209, GO:0008207, GO:0008202, GO:0007586, GO:0006707, GO:0006699, GO:0006699, oxidation-reduction process, bile acid catabolic process, androgen metabolic process, androgen metabolic process, C21-steroid hormone metabolic process, steroid metabolic process, digestion, cholesterol catabolic process, bile acid biosynthetic process, bile acid biosynthetic process, 0 0 0 0 0 3 0 0 0 ENSG00000122824 chrX 51332231 51337525 + NUDT10 protein_coding This gene is a member of the nudix (nucleoside diphosphate linked moiety X)-type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of intracellular trafficking. In some populations putative prostate cancer susceptibility alleles have been identified for this gene. Alternatively spliced transcript variants, which differ only in the 5' UTR, have been found for this gene. [provided by RefSeq, Feb 2015]. 170685 GO:0005829, GO:0005829, GO:0005737, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, GO:0052842, GO:0052840, GO:0050072, GO:0046872, GO:0034432, GO:0034431, GO:0008486, GO:0008486, GO:0005515, GO:0000298, inositol diphosphate pentakisphosphate diphosphatase activity, inositol diphosphate tetrakisphosphate diphosphatase activity, m7G(5')pppN diphosphatase activity, metal ion binding, bis(5'-adenosyl)-pentaphosphatase activity, bis(5'-adenosyl)-hexaphosphatase activity, diphosphoinositol-polyphosphate diphosphatase activity, diphosphoinositol-polyphosphate diphosphatase activity, protein binding, endopolyphosphatase activity, GO:1901911, GO:1901909, GO:1901907, GO:0071543, GO:0043647, adenosine 5'-(hexahydrogen pentaphosphate) catabolic process, diadenosine hexaphosphate catabolic process, diadenosine pentaphosphate catabolic process, diphosphoinositol polyphosphate metabolic process, inositol phosphate metabolic process, 0 0 1 2 0 7 0 0 0 ENSG00000122852 chr10 79610939 79615455 + SFTPA1 protein_coding This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 653509 GO:0045334, GO:0042599, GO:0005791, GO:0005789, GO:0005771, GO:0005615, GO:0005581, GO:0005576, clathrin-coated endocytic vesicle, lamellar body, rough endoplasmic reticulum, endoplasmic reticulum membrane, multivesicular body, extracellular space, collagen trimer, extracellular region, GO:0030246, GO:0005515, GO:0005319, carbohydrate binding, protein binding, lipid transporter activity, GO:0044267, GO:0008228, GO:0007585, GO:0006869, GO:0002224, cellular protein metabolic process, opsonization, respiratory gaseous exchange by respiratory system, lipid transport, toll-like receptor signaling pathway, 0 0 0 0 1 0 0 0 0 ENSG00000122859 chr10 69571698 69573238 - NEUROG3 protein_coding The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]. 50674 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:0046983, GO:0031490, GO:0005515, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, protein dimerization activity, chromatin DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060290, GO:0048814, GO:0045944, GO:0045893, GO:0045666, GO:0031018, GO:0030902, GO:0030900, GO:0030855, GO:0030182, GO:0021510, GO:0007422, GO:0007417, GO:0007399, GO:0006357, GO:0000122, transdifferentiation, regulation of dendrite morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of neuron differentiation, endocrine pancreas development, hindbrain development, forebrain development, epithelial cell differentiation, neuron differentiation, spinal cord development, peripheral nervous system development, central nervous system development, nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000122861 chr10 73909177 73917497 + PLAU protein_coding This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 5328 GO:0070821, GO:0070062, GO:0035579, GO:0009986, GO:0005925, GO:0005886, GO:0005615, GO:0005615, GO:0005576, tertiary granule membrane, extracellular exosome, specific granule membrane, cell surface, focal adhesion, plasma membrane, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0004252, GO:0004252, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:2000097, GO:0061041, GO:0043312, GO:0042730, GO:0042730, GO:0042127, GO:0033628, GO:0033628, GO:0031639, GO:0031639, GO:0030335, GO:0014910, GO:0014909, GO:0010469, GO:0007596, GO:0007165, GO:0006935, GO:0006508, GO:0001666, regulation of smooth muscle cell-matrix adhesion, regulation of wound healing, neutrophil degranulation, fibrinolysis, fibrinolysis, regulation of cell population proliferation, regulation of cell adhesion mediated by integrin, regulation of cell adhesion mediated by integrin, plasminogen activation, plasminogen activation, positive regulation of cell migration, regulation of smooth muscle cell migration, smooth muscle cell migration, regulation of signaling receptor activity, blood coagulation, signal transduction, chemotaxis, proteolysis, response to hypoxia, 195 587 1789 6841 3235 6105 13402 7229 7862 ENSG00000122862 chr10 69088106 69104811 + SRGN protein_coding This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]. 5552 GO:0042629, GO:0031093, GO:0030141, GO:0005794, GO:0005615, GO:0005576, mast cell granule, platelet alpha granule lumen, secretory granule, Golgi apparatus, extracellular space, extracellular region, GO:0005515, protein binding, GO:0140507, GO:0033382, GO:0033373, GO:0033371, GO:0033364, GO:0033363, GO:0031214, GO:0030502, GO:0030502, GO:0016485, GO:0006915, GO:0002576, GO:0001818, granzyme-mediated programmed cell death signaling pathway, maintenance of granzyme B location in T cell secretory granule, maintenance of protease location in mast cell secretory granule, T cell secretory granule organization, mast cell secretory granule organization, secretory granule organization, biomineral tissue development, negative regulation of bone mineralization, negative regulation of bone mineralization, protein processing, apoptotic process, platelet degranulation, negative regulation of cytokine production, 64674 54410 82973 24035 48029 38225 30644 43379 34352 ENSG00000122863 chr10 71964365 72013564 + CHST3 protein_coding This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]. 9469 GO:0016021, GO:0005802, GO:0000139, integral component of membrane, trans-Golgi network, Golgi membrane, GO:0008459, GO:0008459, GO:0008146, GO:0001517, chondroitin 6-sulfotransferase activity, chondroitin 6-sulfotransferase activity, sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, GO:0030206, GO:0030206, GO:0030206, GO:0006790, GO:0006790, GO:0006044, GO:0005975, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, sulfur compound metabolic process, sulfur compound metabolic process, N-acetylglucosamine metabolic process, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000122870 chr10 58513140 58831437 + BICC1 protein_coding This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]. 80114 GO:0005737, cytoplasm, GO:0003723, RNA binding, GO:0090090, GO:0007507, GO:0007368, GO:0001822, negative regulation of canonical Wnt signaling pathway, heart development, determination of left/right symmetry, kidney development, 0 0 0 5 0 3 0 0 0 ENSG00000122872 chr10 60684505 60685209 + ARL4AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000122873 chr10 58269058 58289586 + CISD1 protein_coding This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012]. 55847 GO:0032473, GO:0016021, GO:0005741, GO:0005739, GO:0005739, GO:0005739, cytoplasmic side of mitochondrial outer membrane, integral component of membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, mitochondrion, GO:0051537, GO:0046872, GO:0042802, 2 iron, 2 sulfur cluster binding, metal ion binding, identical protein binding, GO:0043457, regulation of cellular respiration, 48 51 5 18 31 1 22 25 13 ENSG00000122877 chr10 62811996 62919900 - EGR2 protein_coding The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 1959 GO:0043231, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0071837, GO:0061665, GO:0046872, GO:0043565, GO:0031625, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0001102, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, HMG box domain binding, SUMO ligase activity, metal ion binding, sequence-specific DNA binding, ubiquitin protein ligase binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071310, GO:0048168, GO:0045944, GO:0045944, GO:0045893, GO:0045444, GO:0042552, GO:0035914, GO:0035284, GO:0032868, GO:0031643, GO:0030278, GO:0021666, GO:0021665, GO:0021660, GO:0021659, GO:0021612, GO:0016925, GO:0016925, GO:0014040, GO:0014037, GO:0008045, GO:0007622, GO:0007611, GO:0007422, GO:0007420, GO:0006611, GO:0006357, cellular response to organic substance, regulation of neuronal synaptic plasticity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, fat cell differentiation, myelination, skeletal muscle cell differentiation, brain segmentation, response to insulin, positive regulation of myelination, regulation of ossification, rhombomere 5 formation, rhombomere 5 structural organization, rhombomere 3 formation, rhombomere 3 structural organization, facial nerve structural organization, protein sumoylation, protein sumoylation, positive regulation of Schwann cell differentiation, Schwann cell differentiation, motor neuron axon guidance, rhythmic behavior, learning or memory, peripheral nervous system development, brain development, protein export from nucleus, regulation of transcription by RNA polymerase II, 91 132 106 643 322 751 785 342 887 ENSG00000122882 chr10 73130155 73169055 - ECD protein_coding 11319 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0035035, GO:0005515, histone acetyltransferase binding, protein binding, GO:2000045, GO:0045944, GO:0008380, GO:0008283, GO:0006397, regulation of G1/S transition of mitotic cell cycle, positive regulation of transcription by RNA polymerase II, RNA splicing, cell population proliferation, mRNA processing, 590 598 660 368 361 426 349 362 317 ENSG00000122884 chr10 73007217 73096974 - P4HA1 protein_coding This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 5033 GO:0043231, GO:0016222, GO:0016020, GO:0005788, GO:0005783, GO:0005783, GO:0005739, intracellular membrane-bounded organelle, procollagen-proline 4-dioxygenase complex, membrane, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, mitochondrion, GO:0042802, GO:0031418, GO:0016702, GO:0005515, GO:0005506, GO:0004656, identical protein binding, L-ascorbic acid binding, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, protein binding, iron ion binding, procollagen-proline 4-dioxygenase activity, GO:0055114, GO:0030199, GO:0018401, oxidation-reduction process, collagen fibril organization, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, 209 199 280 145 191 150 96 147 105 ENSG00000122912 chr10 68477999 68527474 - SLC25A16 protein_coding This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]. 8034 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0015297, GO:0015291, GO:0005347, antiporter activity, secondary active transmembrane transporter activity, ATP transmembrane transporter activity, GO:0055085, GO:0015867, GO:0006839, transmembrane transport, ATP transport, mitochondrial transport, 148 162 168 199 141 189 140 122 135 ENSG00000122952 chr10 56357228 56361275 - ZWINT protein_coding This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 11130 GO:0030425, GO:0016604, GO:0016604, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0000777, GO:0000776, GO:0000776, dendrite, nuclear body, nuclear body, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0047485, GO:0005515, protein N-terminus binding, protein binding, GO:0051649, GO:0051649, GO:0051301, GO:0007093, GO:0007093, GO:0000070, GO:0000070, establishment of localization in cell, establishment of localization in cell, cell division, mitotic cell cycle checkpoint, mitotic cell cycle checkpoint, mitotic sister chromatid segregation, mitotic sister chromatid segregation, 1 1 0 2 0 2 0 4 13 ENSG00000122958 chr10 69123512 69172861 + VPS26A protein_coding This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 9559 GO:0097422, GO:0031982, GO:0030906, GO:0030906, GO:0030904, GO:0030904, GO:0030904, GO:0010008, GO:0005829, GO:0005769, GO:0005768, GO:0005768, GO:0005764, tubular endosome, vesicle, retromer, cargo-selective complex, retromer, cargo-selective complex, retromer complex, retromer complex, retromer complex, endosome membrane, cytosol, early endosome, endosome, endosome, lysosome, GO:0005515, protein binding, GO:1990126, GO:0042147, GO:0042147, GO:0042147, GO:0016241, GO:0016055, GO:0006886, retrograde transport, endosome to plasma membrane, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, regulation of macroautophagy, Wnt signaling pathway, intracellular protein transport, 777 554 906 530 532 524 458 464 403 ENSG00000122965 chr12 113816738 113966371 - RBM19 protein_coding This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]. 9904 GO:0016607, GO:0016020, GO:0005737, GO:0005730, GO:0005730, GO:0005730, GO:0005694, GO:0005654, nuclear speck, membrane, cytoplasm, nucleolus, nucleolus, nucleolus, chromosome, nucleoplasm, GO:0003723, GO:0003723, RNA binding, RNA binding, GO:0045292, GO:0040019, GO:0007275, GO:0000381, mRNA cis splicing, via spliceosome, positive regulation of embryonic development, multicellular organism development, regulation of alternative mRNA splicing, via spliceosome, 36 35 48 78 54 119 97 28 137 ENSG00000122966 chr12 119685790 119877291 - CIT protein_coding This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 11113 GO:0016020, GO:0005856, GO:0005829, GO:0005737, membrane, cytoskeleton, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0097110, GO:0046872, GO:0030165, GO:0017124, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, scaffold protein binding, metal ion binding, PDZ domain binding, SH3 domain binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0051402, GO:0048699, GO:0035556, GO:0032467, GO:0031032, GO:0018107, GO:0000281, GO:0000278, neuron apoptotic process, generation of neurons, intracellular signal transduction, positive regulation of cytokinesis, actomyosin structure organization, peptidyl-threonine phosphorylation, mitotic cytokinesis, mitotic cell cycle, 2 0 3 3 0 11 2 1 0 ENSG00000122970 chr12 110124335 110218797 + IFT81 protein_coding The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]. 28981 GO:0097542, GO:0097228, GO:0097225, GO:0036064, GO:0031514, GO:0030992, GO:0030992, GO:0005929, GO:0005929, GO:0005813, ciliary tip, sperm principal piece, sperm midpiece, ciliary basal body, motile cilium, intraciliary transport particle B, intraciliary transport particle B, cilium, cilium, centrosome, GO:0015631, GO:0015631, GO:0005515, tubulin binding, tubulin binding, protein binding, GO:0060271, GO:0042073, GO:0035735, GO:0035735, GO:0008589, GO:0007283, cilium assembly, intraciliary transport, intraciliary transport involved in cilium assembly, intraciliary transport involved in cilium assembly, regulation of smoothened signaling pathway, spermatogenesis, 23 21 27 18 16 19 17 5 13 ENSG00000122971 chr12 120725735 120740008 + ACADS protein_coding This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]. 35 GO:0005813, GO:0005759, GO:0005759, GO:0005739, GO:0005654, GO:0005634, centrosome, mitochondrial matrix, mitochondrial matrix, mitochondrion, nucleoplasm, nucleus, GO:0050660, GO:0004085, GO:0004085, GO:0003995, GO:0003995, GO:0003995, flavin adenine dinucleotide binding, butyryl-CoA dehydrogenase activity, butyryl-CoA dehydrogenase activity, acyl-CoA dehydrogenase activity, acyl-CoA dehydrogenase activity, acyl-CoA dehydrogenase activity, GO:0046359, GO:0033539, GO:0006635, GO:0006635, butyrate catabolic process, fatty acid beta-oxidation using acyl-CoA dehydrogenase, fatty acid beta-oxidation, fatty acid beta-oxidation, 5 15 13 17 22 38 23 16 38 ENSG00000122986 chr12 110627841 110704950 - HVCN1 protein_coding This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 84329 GO:0035579, GO:0030670, GO:0030667, GO:0016324, GO:0016021, GO:0005887, GO:0005886, specific granule membrane, phagocytic vesicle membrane, secretory granule membrane, apical plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0030171, GO:0030171, GO:0022843, identical protein binding, voltage-gated proton channel activity, voltage-gated proton channel activity, voltage-gated cation channel activity, GO:1902600, GO:1902600, GO:0071467, GO:0071294, GO:0051453, GO:0045454, GO:0043312, GO:0035036, GO:0034765, GO:0032930, GO:0010043, GO:0010043, GO:0009268, proton transmembrane transport, proton transmembrane transport, cellular response to pH, cellular response to zinc ion, regulation of intracellular pH, cell redox homeostasis, neutrophil degranulation, sperm-egg recognition, regulation of ion transmembrane transport, positive regulation of superoxide anion generation, response to zinc ion, response to zinc ion, response to pH, 477 531 529 243 704 477 361 609 442 ENSG00000123009 chr12 120282303 120282716 + NME2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000123064 chr12 113157174 113185479 - DDX54 protein_coding This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 79039 GO:0016020, GO:0005794, GO:0005730, GO:0005730, GO:0005654, GO:0005634, membrane, Golgi apparatus, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0030331, GO:0005524, GO:0005102, GO:0003724, GO:0003723, GO:0003714, estrogen receptor binding, ATP binding, signaling receptor binding, RNA helicase activity, RNA binding, transcription corepressor activity, GO:1903507, GO:0030520, GO:0016070, GO:0006396, GO:0006364, negative regulation of nucleic acid-templated transcription, intracellular estrogen receptor signaling pathway, RNA metabolic process, RNA processing, rRNA processing, 45 51 83 95 29 117 118 42 93 ENSG00000123066 chr12 115953872 116277719 - MED13L protein_coding The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]. 23389 GO:0016592, mediator complex, GO:0003712, transcription coregulator activity, GO:0006357, regulation of transcription by RNA polymerase II, 7693 8811 10030 2516 4526 3696 3392 3640 3308 ENSG00000123080 chr1 50960745 50974633 + CDKN2C protein_coding The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]. 1031 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0019901, GO:0005515, GO:0004861, protein kinase binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, GO:2000134, GO:0048709, GO:0045736, GO:0042326, GO:0030308, GO:0008285, GO:0007050, GO:0000082, GO:0000079, negative regulation of G1/S transition of mitotic cell cycle, oligodendrocyte differentiation, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of phosphorylation, negative regulation of cell growth, negative regulation of cell population proliferation, cell cycle arrest, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 2 7 23 4 10 19 2 6 6 ENSG00000123091 chr1 51236271 51273455 + RNF11 protein_coding The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008]. 26994 GO:0070062, GO:0055037, GO:0005769, GO:0005634, GO:0000151, extracellular exosome, recycling endosome, early endosome, nucleus, ubiquitin ligase complex, GO:0061630, GO:0008270, GO:0005515, GO:0003677, ubiquitin protein ligase activity, zinc ion binding, protein binding, DNA binding, GO:0051865, GO:0006511, protein autoubiquitination, ubiquitin-dependent protein catabolic process, 1668 1712 2032 796 1123 1133 861 1024 887 ENSG00000123094 chr12 25959029 26079892 + RASSF8 protein_coding This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 11228 GO:0034334, GO:0007165, adherens junction maintenance, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000123095 chr12 26120026 26125127 - BHLHE41 protein_coding This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]. 79365 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0070888, GO:0070888, GO:0046982, GO:0043426, GO:0043425, GO:0043425, GO:0042826, GO:0042803, GO:0005515, GO:0001227, GO:0001227, GO:0001102, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, E-box binding, protein heterodimerization activity, MRF binding, bHLH transcription factor binding, bHLH transcription factor binding, histone deacetylase binding, protein homodimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050767, GO:0045892, GO:0032922, GO:0010944, GO:0010832, GO:0009952, GO:0006357, GO:0000122, regulation of neurogenesis, negative regulation of transcription, DNA-templated, circadian regulation of gene expression, negative regulation of transcription by competitive promoter binding, negative regulation of myotube differentiation, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 1 7 8 0 0 8 1 ENSG00000123096 chr12 26121991 26299290 + SSPN protein_coding This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]. 8082 GO:0045211, GO:0042383, GO:0030133, GO:0016010, GO:0005887, postsynaptic membrane, sarcolemma, transport vesicle, dystrophin-associated glycoprotein complex, integral component of plasma membrane, GO:0007155, GO:0006936, cell adhesion, muscle contraction, 7 6 9 8 0 2 1 3 0 ENSG00000123104 chr12 26336515 26833198 - ITPR2 protein_coding The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]. 3709 GO:0043235, GO:0033017, GO:0031095, GO:0030667, GO:0030659, GO:0016529, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005789, GO:0005789, GO:0005783, GO:0005654, receptor complex, sarcoplasmic reticulum membrane, platelet dense tubular network membrane, secretory granule membrane, cytoplasmic vesicle membrane, sarcoplasmic reticulum, integral component of membrane, membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, GO:0097110, GO:0070679, GO:0044325, GO:0035091, GO:0015085, GO:0005509, GO:0005220, GO:0005220, scaffold protein binding, inositol 1,4,5 trisphosphate binding, ion channel binding, phosphatidylinositol binding, calcium ion transmembrane transporter activity, calcium ion binding, inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, GO:1903779, GO:0051209, GO:0051209, GO:0050796, GO:0048016, GO:0030168, GO:0007165, GO:0001666, regulation of cardiac conduction, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, regulation of insulin secretion, inositol phosphate-mediated signaling, platelet activation, signal transduction, response to hypoxia, 1050 1089 1381 552 658 758 768 549 685 ENSG00000123106 chr12 28133249 28581511 + CCDC91 protein_coding 55297 GO:0016020, GO:0005829, GO:0005802, GO:0005802, GO:0005794, GO:0005654, membrane, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, nucleoplasm, GO:0042802, identical protein binding, GO:0090160, GO:0090160, GO:0015031, Golgi to lysosome transport, Golgi to lysosome transport, protein transport, 34 34 45 86 68 85 82 45 63 ENSG00000123119 chr8 90791550 90959408 + NECAB1 protein_coding 64168 GO:0005829, GO:0005737, GO:0005737, GO:0005654, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0042802, GO:0005515, GO:0005509, GO:0003674, identical protein binding, protein binding, calcium ion binding, molecular_function, GO:0042984, GO:0008150, GO:0001835, regulation of amyloid precursor protein biosynthetic process, biological_process, blastocyst hatching, 8 13 7 26 29 12 15 23 14 ENSG00000123124 chr8 86342738 86478420 + WWP1 protein_coding WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]. 11059 GO:0070062, GO:0005886, GO:0005829, GO:0005737, GO:0005634, GO:0000151, extracellular exosome, plasma membrane, cytosol, cytoplasm, nucleus, ubiquitin ligase complex, GO:0061630, GO:0005515, GO:0004842, ubiquitin protein ligase activity, protein binding, ubiquitin-protein transferase activity, GO:0046718, GO:0045892, GO:0045732, GO:0043161, GO:0034220, GO:0016567, GO:0016567, GO:0007417, GO:0007165, GO:0000209, viral entry into host cell, negative regulation of transcription, DNA-templated, positive regulation of protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, ion transmembrane transport, protein ubiquitination, protein ubiquitination, central nervous system development, signal transduction, protein polyubiquitination, 117 98 164 327 148 286 240 110 183 ENSG00000123130 chrX 23702253 23766475 - ACOT9 protein_coding The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 23597 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0052689, GO:0047617, GO:0003986, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, acetyl-CoA hydrolase activity, GO:0006637, GO:0006637, GO:0006637, acyl-CoA metabolic process, acyl-CoA metabolic process, acyl-CoA metabolic process, 730 885 1058 496 648 614 565 506 536 ENSG00000123131 chrX 23664262 23686399 + PRDX4 protein_coding The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. [provided by RefSeq, Jul 2008]. 10549 GO:1904813, GO:0070062, GO:0034774, GO:0005829, GO:0005783, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, cytosol, endoplasmic reticulum, nucleus, extracellular region, GO:0008379, GO:0005515, thioredoxin peroxidase activity, protein binding, GO:2000255, GO:0098869, GO:0072593, GO:0055114, GO:0045454, GO:0043312, GO:0042744, GO:0033554, GO:0030198, GO:0022417, GO:0018401, GO:0008584, GO:0007283, GO:0007252, GO:0006979, negative regulation of male germ cell proliferation, cellular oxidant detoxification, reactive oxygen species metabolic process, oxidation-reduction process, cell redox homeostasis, neutrophil degranulation, hydrogen peroxide catabolic process, cellular response to stress, extracellular matrix organization, protein maturation by protein folding, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, male gonad development, spermatogenesis, I-kappaB phosphorylation, response to oxidative stress, 9 4 7 6 14 23 3 14 7 ENSG00000123136 chr19 14408819 14419383 - DDX39A protein_coding This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]. 10212 GO:0016607, GO:0016020, GO:0005737, GO:0005654, GO:0005634, nuclear speck, membrane, cytoplasm, nucleoplasm, nucleus, GO:0042802, GO:0016887, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003723, identical protein binding, ATPase activity, ATP binding, protein binding, RNA helicase activity, RNA binding, RNA binding, GO:0031124, GO:0006406, GO:0006406, GO:0006405, GO:0000398, GO:0000398, mRNA 3'-end processing, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1015 1587 1054 4328 5162 4545 3665 2838 3081 ENSG00000123143 chr19 14433053 14471867 + PKN1 protein_coding The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 5585 GO:0032991, GO:0032154, GO:0030496, GO:0005829, GO:0005768, GO:0005737, GO:0005654, GO:0005634, protein-containing complex, cleavage furrow, midbody, cytosol, endosome, cytoplasm, nucleoplasm, nucleus, GO:0050681, GO:0042826, GO:0042393, GO:0035402, GO:0031267, GO:0030374, GO:0030374, GO:0005524, GO:0005515, GO:0005080, GO:0004698, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0003682, androgen receptor binding, histone deacetylase binding, histone binding, histone kinase activity (H3-T11 specific), small GTPase binding, nuclear receptor coactivator activity, nuclear receptor coactivator activity, ATP binding, protein binding, protein kinase C binding, calcium-dependent protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, chromatin binding, GO:2000145, GO:1903508, GO:0048536, GO:0035556, GO:0035407, GO:0030889, GO:0018105, GO:0010631, GO:0007257, GO:0007165, GO:0006972, GO:0006469, GO:0006468, GO:0006357, GO:0006357, GO:0003014, GO:0002637, GO:0002634, GO:0001783, GO:0001782, regulation of cell motility, positive regulation of nucleic acid-templated transcription, spleen development, intracellular signal transduction, histone H3-T11 phosphorylation, negative regulation of B cell proliferation, peptidyl-serine phosphorylation, epithelial cell migration, activation of JUN kinase activity, signal transduction, hyperosmotic response, negative regulation of protein kinase activity, protein phosphorylation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, renal system process, regulation of immunoglobulin production, regulation of germinal center formation, B cell apoptotic process, B cell homeostasis, 935 1025 1304 698 1087 1116 855 853 964 ENSG00000123144 chr19 12730640 12734775 - TRIR protein_coding 79002 GO:0008409, GO:0008409, GO:0008408, GO:0008408, GO:0005515, GO:0003723, 5'-3' exonuclease activity, 5'-3' exonuclease activity, 3'-5' exonuclease activity, 3'-5' exonuclease activity, protein binding, RNA binding, GO:0090503, GO:0090503, GO:0016075, RNA phosphodiester bond hydrolysis, exonucleolytic, RNA phosphodiester bond hydrolysis, exonucleolytic, rRNA catabolic process, 1065 1029 1312 1027 1213 1164 997 1069 1038 ENSG00000123146 chr19 14380501 14408725 + ADGRE5 protein_coding This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]. 976 GO:0070062, GO:0030667, GO:0016020, GO:0005925, GO:0005887, GO:0005886, extracellular exosome, secretory granule membrane, membrane, focal adhesion, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005509, GO:0004930, GO:0004888, protein binding, calcium ion binding, G protein-coupled receptor activity, transmembrane signaling receptor activity, GO:0043312, GO:0007267, GO:0007189, GO:0007186, GO:0007166, GO:0007155, GO:0006955, GO:0006954, neutrophil degranulation, cell-cell signaling, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cell adhesion, immune response, inflammatory response, 14644 18837 20455 9836 17165 14615 10682 12804 13164 ENSG00000123154 chr19 12666800 12675832 + WDR83 protein_coding This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 84292 GO:0071013, GO:0010008, GO:0005681, catalytic step 2 spliceosome, endosome membrane, spliceosomal complex, GO:0005515, protein binding, GO:0090594, GO:0043122, GO:0032640, GO:0032635, GO:0032496, GO:0001666, GO:0000398, GO:0000398, GO:0000375, GO:0000165, inflammatory response to wounding, regulation of I-kappaB kinase/NF-kappaB signaling, tumor necrosis factor production, interleukin-6 production, response to lipopolysaccharide, response to hypoxia, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, MAPK cascade, 177 184 214 125 218 190 177 186 211 ENSG00000123159 chr19 14477760 14496149 - GIPC1 protein_coding GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]. 10755 GO:0098978, GO:0098685, GO:0070062, GO:0043198, GO:0043197, GO:0031410, GO:0016020, GO:0016020, GO:0012506, GO:0008021, GO:0005938, GO:0005829, GO:0005737, glutamatergic synapse, Schaffer collateral - CA1 synapse, extracellular exosome, dendritic shaft, dendritic spine, cytoplasmic vesicle, membrane, membrane, vesicle membrane, synaptic vesicle, cell cortex, cytosol, cytoplasm, GO:0045296, GO:0042802, GO:0017022, GO:0005515, GO:0005102, GO:0003779, cadherin binding, identical protein binding, myosin binding, protein binding, signaling receptor binding, actin binding, GO:2000300, GO:0098761, GO:0048167, GO:0048023, GO:0043542, GO:0032467, GO:0032435, GO:0031647, GO:0030511, GO:0014047, GO:0007268, GO:0007186, GO:0006605, regulation of synaptic vesicle exocytosis, cellular response to interleukin-7, regulation of synaptic plasticity, positive regulation of melanin biosynthetic process, endothelial cell migration, positive regulation of cytokinesis, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of protein stability, positive regulation of transforming growth factor beta receptor signaling pathway, glutamate secretion, chemical synaptic transmission, G protein-coupled receptor signaling pathway, protein targeting, 19 7 31 52 24 55 28 15 56 ENSG00000123165 chrX 128050962 128052398 - ACTRT1 protein_coding This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]. 139741 GO:0005856, GO:0005737, GO:0005634, GO:0005634, cytoskeleton, cytoplasm, nucleus, nucleus, GO:0003682, GO:0003682, chromatin binding, chromatin binding, GO:0045892, GO:0008589, GO:0006355, negative regulation of transcription, DNA-templated, regulation of smoothened signaling pathway, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000123171 chr13 51861981 51866232 + CCDC70 protein_coding 83446 GO:0005886, GO:0005576, plasma membrane, extracellular region, GO:0005515, protein binding, 0 2 0 0 0 0 0 0 0 ENSG00000123178 chr13 49912706 49936490 - SPRYD7 protein_coding 57213 GO:0005515, protein binding, 5 6 8 7 21 16 8 9 11 ENSG00000123179 chr13 49660723 49691475 - EBPL protein_coding 84650 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0047750, cholestenol delta-isomerase activity, GO:0016125, sterol metabolic process, 36 27 37 34 34 18 16 28 20 ENSG00000123191 chr13 51930436 52012125 - ATP7B protein_coding This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]. 540 GO:0048471, GO:0032588, GO:0031410, GO:0016323, GO:0016020, GO:0005887, GO:0005802, GO:0005794, GO:0005770, GO:0005739, GO:0000139, perinuclear region of cytoplasm, trans-Golgi network membrane, cytoplasmic vesicle, basolateral plasma membrane, membrane, integral component of plasma membrane, trans-Golgi network, Golgi apparatus, late endosome, mitochondrion, Golgi membrane, GO:0043682, GO:0043682, GO:0043682, GO:0043682, GO:0005524, GO:0005515, GO:0005507, GO:0005375, copper transmembrane transporter activity, phosphorylative mechanism, copper transmembrane transporter activity, phosphorylative mechanism, copper transmembrane transporter activity, phosphorylative mechanism, copper transmembrane transporter activity, phosphorylative mechanism, ATP binding, protein binding, copper ion binding, copper ion transmembrane transporter activity, GO:0072511, GO:0060003, GO:0051208, GO:0046688, GO:0034220, GO:0015680, GO:0015677, GO:0007595, GO:0006882, GO:0006878, GO:0006878, GO:0006825, GO:0006825, GO:0006825, divalent inorganic cation transport, copper ion export, sequestering of calcium ion, response to copper ion, ion transmembrane transport, protein maturation by copper ion transfer, copper ion import, lactation, cellular zinc ion homeostasis, cellular copper ion homeostasis, cellular copper ion homeostasis, copper ion transport, copper ion transport, copper ion transport, 67 36 62 37 44 31 50 40 33 ENSG00000123200 chr13 45954465 46052759 - ZC3H13 protein_coding 23091 GO:0036396, GO:0016607, GO:0016607, GO:0005654, RNA N6-methyladenosine methyltransferase complex, nuclear speck, nuclear speck, nucleoplasm, GO:0046872, GO:0005515, GO:0003723, metal ion binding, protein binding, RNA binding, GO:2000036, GO:0080009, GO:0008380, GO:0007275, GO:0006397, regulation of stem cell population maintenance, mRNA methylation, RNA splicing, multicellular organism development, mRNA processing, 981 916 1368 480 487 578 493 428 408 ENSG00000123201 chr13 50994511 51080862 - GUCY1B2 transcribed_unitary_pseudogene 2974 0 0 0 0 1 0 4 0 0 ENSG00000123213 chr5 65722196 65871725 + NLN protein_coding This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010]. 57486 GO:0005886, GO:0005758, GO:0005576, plasma membrane, mitochondrial intermembrane space, extracellular region, GO:0046872, GO:0042277, GO:0004222, GO:0004222, metal ion binding, peptide binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:1902809, GO:0006518, GO:0006508, GO:0006111, regulation of skeletal muscle fiber differentiation, peptide metabolic process, proteolysis, regulation of gluconeogenesis, 2 3 2 14 14 24 11 10 10 ENSG00000123219 chr5 65517766 65563171 - CENPK protein_coding CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]. 64105 GO:0005829, GO:0005654, GO:0000941, cytosol, nucleoplasm, condensed nuclear chromosome inner kinetochore, GO:0005515, protein binding, GO:0051382, GO:0034080, GO:0000070, kinetochore assembly, CENP-A containing nucleosome assembly, mitotic sister chromatid segregation, 17 8 27 51 18 22 53 21 37 ENSG00000123240 chr10 13099449 13138308 + OPTN protein_coding This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 10133 GO:0055038, GO:0048471, GO:0005829, GO:0005829, GO:0005802, GO:0005794, GO:0005794, GO:0005776, GO:0005737, GO:0005654, GO:0005634, GO:0000139, recycling endosome membrane, perinuclear region of cytoplasm, cytosol, cytosol, trans-Golgi network, Golgi apparatus, Golgi apparatus, autophagosome, cytoplasm, nucleoplasm, nucleus, Golgi membrane, GO:0070530, GO:0046872, GO:0042802, GO:0031593, GO:0031267, GO:0030674, GO:0008022, GO:0005515, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, identical protein binding, polyubiquitin modification-dependent protein binding, small GTPase binding, protein-macromolecule adaptor activity, protein C-terminus binding, protein binding, GO:1904417, GO:0090161, GO:0090161, GO:0090161, GO:0061734, GO:0050829, GO:0045087, GO:0043124, GO:0043122, GO:0043001, GO:0034620, GO:0034067, GO:0034067, GO:0016032, GO:0010508, GO:0008219, GO:0007165, GO:0007030, GO:0006914, GO:0001920, GO:0000086, positive regulation of xenophagy, Golgi ribbon formation, Golgi ribbon formation, Golgi ribbon formation, parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization, defense response to Gram-negative bacterium, innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, Golgi to plasma membrane protein transport, cellular response to unfolded protein, protein localization to Golgi apparatus, protein localization to Golgi apparatus, viral process, positive regulation of autophagy, cell death, signal transduction, Golgi organization, autophagy, negative regulation of receptor recycling, G2/M transition of mitotic cell cycle, 88 63 228 307 84 350 268 85 298 ENSG00000123243 chr10 7559270 7666998 - ITIH5 protein_coding This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 80760 GO:0062023, collagen-containing extracellular matrix, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0030212, GO:0010951, hyaluronan metabolic process, negative regulation of endopeptidase activity, 0 0 0 3 0 0 0 0 0 ENSG00000123268 chr12 50763710 50821122 + ATF1 protein_coding This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010]. 466 GO:1990590, GO:1990589, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, ATF1-ATF4 transcription factor complex, ATF4-CREB1 transcription factor complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0046982, GO:0044877, GO:0042802, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein heterodimerization activity, protein-containing complex binding, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045740, GO:0034622, GO:0032025, GO:0014070, GO:0010976, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of DNA replication, cellular protein-containing complex assembly, response to cobalt ion, response to organic cyclic compound, positive regulation of neuron projection development, regulation of transcription by RNA polymerase II, 137 120 156 91 108 117 103 90 88 ENSG00000123297 chr12 57782589 57808071 + TSFM protein_coding This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]. 10102 GO:0005759, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrion, nucleoplasm, GO:0005515, GO:0003746, GO:0003723, protein binding, translation elongation factor activity, RNA binding, GO:0070129, GO:0070125, GO:0032784, GO:0006414, regulation of mitochondrial translation, mitochondrial translational elongation, regulation of DNA-templated transcription, elongation, translational elongation, 46 46 21 83 97 92 82 56 66 ENSG00000123307 chr12 55019945 55030014 + NEUROD4 protein_coding 58158 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048666, GO:0045597, GO:0045165, GO:0035881, GO:0030182, GO:0010001, GO:0007405, GO:0007219, GO:0006357, GO:0001764, neuron development, positive regulation of cell differentiation, cell fate commitment, amacrine cell differentiation, neuron differentiation, glial cell differentiation, neuroblast proliferation, Notch signaling pathway, regulation of transcription by RNA polymerase II, neuron migration, 3 2 4 2 5 9 6 3 13 ENSG00000123329 chr12 57472255 57488814 - ARHGAP9 protein_coding This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 64333 GO:0034774, GO:0005829, GO:0005737, GO:0005576, secretory granule lumen, cytosol, cytoplasm, extracellular region, GO:0005547, GO:0005515, GO:0005096, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0043312, GO:0043087, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, neutrophil degranulation, regulation of GTPase activity, signal transduction, 9713 8668 10816 6265 8980 8079 6641 6900 7347 ENSG00000123338 chr12 54497711 54548238 + NCKAP1L protein_coding This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]. 3071 GO:0101003, GO:0070062, GO:0031209, GO:0031209, GO:0030667, GO:0016020, GO:0005887, GO:0005886, GO:0005829, GO:0005829, ficolin-1-rich granule membrane, extracellular exosome, SCAR complex, SCAR complex, secretory granule membrane, membrane, integral component of plasma membrane, plasma membrane, cytosol, cytosol, GO:0044877, GO:0031267, GO:0030295, GO:0005515, GO:0005096, protein-containing complex binding, small GTPase binding, protein kinase activator activity, protein binding, GTPase activator activity, GO:0090023, GO:0070358, GO:0065003, GO:0060100, GO:0050853, GO:0048821, GO:0048812, GO:0048010, GO:0045648, GO:0045621, GO:0045588, GO:0045579, GO:0043547, GO:0043378, GO:0043372, GO:0043312, GO:0043066, GO:0043029, GO:0042493, GO:0042327, GO:0042102, GO:0038096, GO:0035509, GO:0034101, GO:0033630, GO:0032715, GO:0032700, GO:0032147, GO:0030890, GO:0030866, GO:0030866, GO:0030866, GO:0030838, GO:0030593, GO:0030031, GO:0030011, GO:0016477, GO:0006935, GO:0002262, GO:0001782, GO:0000902, positive regulation of neutrophil chemotaxis, actin polymerization-dependent cell motility, protein-containing complex assembly, positive regulation of phagocytosis, engulfment, B cell receptor signaling pathway, erythrocyte development, neuron projection morphogenesis, vascular endothelial growth factor receptor signaling pathway, positive regulation of erythrocyte differentiation, positive regulation of lymphocyte differentiation, positive regulation of gamma-delta T cell differentiation, positive regulation of B cell differentiation, positive regulation of GTPase activity, positive regulation of CD8-positive, alpha-beta T cell differentiation, positive regulation of CD4-positive, alpha-beta T cell differentiation, neutrophil degranulation, negative regulation of apoptotic process, T cell homeostasis, response to drug, positive regulation of phosphorylation, positive regulation of T cell proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, negative regulation of myosin-light-chain-phosphatase activity, erythrocyte homeostasis, positive regulation of cell adhesion mediated by integrin, negative regulation of interleukin-6 production, negative regulation of interleukin-17 production, activation of protein kinase activity, positive regulation of B cell proliferation, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, positive regulation of actin filament polymerization, neutrophil chemotaxis, cell projection assembly, maintenance of cell polarity, cell migration, chemotaxis, myeloid cell homeostasis, B cell homeostasis, cell morphogenesis, 1176 1470 1608 977 1453 1402 1106 1124 1155 ENSG00000123342 chr12 55835433 55842966 - MMP19 protein_coding This gene encodes a member of a family of proteins that are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]. 4327 GO:0031012, GO:0005615, GO:0005576, extracellular matrix, extracellular space, extracellular region, GO:0008270, GO:0004222, GO:0004222, zinc ion binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:0051591, GO:0030574, GO:0030198, GO:0030154, GO:0022617, GO:0009725, GO:0006508, GO:0001554, GO:0001542, GO:0001541, GO:0001525, response to cAMP, collagen catabolic process, extracellular matrix organization, cell differentiation, extracellular matrix disassembly, response to hormone, proteolysis, luteolysis, ovulation from ovarian follicle, ovarian follicle development, angiogenesis, 7 7 6 16 19 30 12 19 4 ENSG00000123349 chr12 53295291 53299450 + PFDN5 protein_coding This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 5204 GO:0045111, GO:0016272, GO:0005829, GO:0005737, GO:0005737, GO:0005634, intermediate filament cytoskeleton, prefoldin complex, cytosol, cytoplasm, cytoplasm, nucleus, GO:0051082, GO:0005515, GO:0003714, unfolded protein binding, protein binding, transcription corepressor activity, GO:0090090, GO:0060041, GO:0045892, GO:0006457, GO:0006355, negative regulation of canonical Wnt signaling pathway, retina development in camera-type eye, negative regulation of transcription, DNA-templated, protein folding, regulation of transcription, DNA-templated, 1114 944 1308 979 1134 1196 866 809 1034 ENSG00000123352 chr12 49366584 49527424 + SPATS2 protein_coding 65244 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0003723, RNA binding, 8 1 8 17 8 17 5 9 5 ENSG00000123353 chr12 55817919 55821879 + ORMDL2 protein_coding 29095 GO:0035339, GO:0016021, GO:0005783, SPOTS complex, integral component of membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:1900060, GO:1900060, GO:0090156, GO:0006672, GO:0006672, negative regulation of ceramide biosynthetic process, negative regulation of ceramide biosynthetic process, cellular sphingolipid homeostasis, ceramide metabolic process, ceramide metabolic process, 214 183 264 86 153 126 91 139 101 ENSG00000123358 chr12 52022832 52059507 + NR4A1 protein_coding This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 3164 GO:0031965, GO:0005829, GO:0005739, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear membrane, cytosol, mitochondrion, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046982, GO:0035259, GO:0008270, GO:0005515, GO:0004879, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein heterodimerization activity, glucocorticoid receptor binding, zinc ion binding, protein binding, nuclear receptor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071376, GO:0071376, GO:0061469, GO:0045944, GO:0045786, GO:0045444, GO:0044344, GO:0035924, GO:0035767, GO:0030522, GO:0007165, GO:0006367, GO:0006357, GO:0002042, GO:0001938, cellular response to corticotropin-releasing hormone stimulus, cellular response to corticotropin-releasing hormone stimulus, regulation of type B pancreatic cell proliferation, positive regulation of transcription by RNA polymerase II, negative regulation of cell cycle, fat cell differentiation, cellular response to fibroblast growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, endothelial cell chemotaxis, intracellular receptor signaling pathway, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, cell migration involved in sprouting angiogenesis, positive regulation of endothelial cell proliferation, 69 150 286 8048 2543 8175 7723 2327 5893 ENSG00000123360 chr12 54549350 54579239 + PDE1B protein_coding The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]. 5153 GO:0043025, GO:0005829, neuronal cell body, cytosol, GO:0048101, GO:0047555, GO:0046872, GO:0005516, GO:0005515, GO:0004117, GO:0004115, GO:0004114, calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, calmodulin binding, protein binding, calmodulin-dependent cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0097011, GO:0042053, GO:0036006, GO:0030224, GO:0008542, GO:0007626, GO:0007186, GO:0007165, GO:0006915, GO:0001975, GO:0001505, cellular response to granulocyte macrophage colony-stimulating factor stimulus, regulation of dopamine metabolic process, cellular response to macrophage colony-stimulating factor stimulus, monocyte differentiation, visual learning, locomotory behavior, G protein-coupled receptor signaling pathway, signal transduction, apoptotic process, response to amphetamine, regulation of neurotransmitter levels, 102 146 97 222 284 246 222 131 218 ENSG00000123364 chr12 53938765 53946544 + HOXC13 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]. 3229 GO:0000785, chromatin, GO:1990837, GO:0005515, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0043587, GO:0035878, GO:0009952, GO:0009653, GO:0006357, GO:0001942, positive regulation of transcription by RNA polymerase II, tongue morphogenesis, nail development, anterior/posterior pattern specification, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, hair follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000123374 chr12 55966769 55972784 + CDK2 protein_coding This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 1017 GO:0097135, GO:0097134, GO:0097124, GO:0097123, GO:0015030, GO:0005829, GO:0005813, GO:0005813, GO:0005768, GO:0005737, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000806, GO:0000805, GO:0000793, GO:0000781, GO:0000307, GO:0000307, cyclin E2-CDK2 complex, cyclin E1-CDK2 complex, cyclin A2-CDK2 complex, cyclin A1-CDK2 complex, Cajal body, cytosol, centrosome, centrosome, endosome, cytoplasm, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, Y chromosome, X chromosome, condensed chromosome, chromosome, telomeric region, cyclin-dependent protein kinase holoenzyme complex, cyclin-dependent protein kinase holoenzyme complex, GO:0097472, GO:0035173, GO:0030332, GO:0030332, GO:0030332, GO:0019904, GO:0005524, GO:0005515, GO:0004693, GO:0004693, GO:0004693, GO:0004674, GO:0000287, cyclin-dependent protein kinase activity, histone kinase activity, cyclin binding, cyclin binding, cyclin binding, protein domain specific binding, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:1901796, GO:0071732, GO:0060968, GO:0051321, GO:0051301, GO:0051298, GO:0045893, GO:0032298, GO:0031571, GO:0031145, GO:0018105, GO:0016572, GO:0010468, GO:0010389, GO:0008284, GO:0008284, GO:0007265, GO:0007165, GO:0007099, GO:0006977, GO:0006813, GO:0006468, GO:0006468, GO:0006468, GO:0006281, GO:0006260, GO:0000122, GO:0000086, GO:0000086, GO:0000082, GO:0000082, regulation of signal transduction by p53 class mediator, cellular response to nitric oxide, regulation of gene silencing, meiotic cell cycle, cell division, centrosome duplication, positive regulation of transcription, DNA-templated, positive regulation of DNA-dependent DNA replication initiation, mitotic G1 DNA damage checkpoint, anaphase-promoting complex-dependent catabolic process, peptidyl-serine phosphorylation, histone phosphorylation, regulation of gene expression, regulation of G2/M transition of mitotic cell cycle, positive regulation of cell population proliferation, positive regulation of cell population proliferation, Ras protein signal transduction, signal transduction, centriole replication, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, potassium ion transport, protein phosphorylation, protein phosphorylation, protein phosphorylation, DNA repair, DNA replication, negative regulation of transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 374 288 292 259 293 254 283 215 206 ENSG00000123384 chr12 57128493 57213351 + LRP1 protein_coding This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]. 4035 GO:0150051, GO:0098797, GO:0045177, GO:0044295, GO:0043235, GO:0043025, GO:0032593, GO:0030666, GO:0030425, GO:0030136, GO:0016323, GO:0016020, GO:0005925, GO:0005905, GO:0005887, GO:0005886, GO:0005856, GO:0005769, GO:0005765, GO:0005634, postsynaptic Golgi apparatus, plasma membrane protein complex, apical part of cell, axonal growth cone, receptor complex, neuronal cell body, insulin-responsive compartment, endocytic vesicle membrane, dendrite, clathrin-coated vesicle, basolateral plasma membrane, membrane, focal adhesion, clathrin-coated pit, integral component of plasma membrane, plasma membrane, cytoskeleton, early endosome, lysosomal membrane, nucleus, GO:0070325, GO:0044877, GO:0043395, GO:0038024, GO:0038024, GO:0038024, GO:0038023, GO:0034185, GO:0034185, GO:0032050, GO:0030226, GO:0016964, GO:0016964, GO:0015026, GO:0005515, GO:0005509, GO:0005044, GO:0005041, GO:0003723, GO:0002020, GO:0001540, lipoprotein particle receptor binding, protein-containing complex binding, heparan sulfate proteoglycan binding, cargo receptor activity, cargo receptor activity, cargo receptor activity, signaling receptor activity, apolipoprotein binding, apolipoprotein binding, clathrin heavy chain binding, apolipoprotein receptor activity, alpha-2 macroglobulin receptor activity, alpha-2 macroglobulin receptor activity, coreceptor activity, protein binding, calcium ion binding, scavenger receptor activity, low-density lipoprotein particle receptor activity, RNA binding, protease binding, amyloid-beta binding, GO:2000587, GO:1905167, GO:1905049, GO:1904754, GO:1904646, GO:1904300, GO:1904109, GO:1903078, GO:1900223, GO:1900223, GO:1900149, GO:0150104, GO:0150104, GO:0150094, GO:0150094, GO:0150093, GO:0150093, GO:0097242, GO:0097242, GO:0070374, GO:0061642, GO:0051895, GO:0051481, GO:0050766, GO:0048694, GO:0048691, GO:0045807, GO:0045056, GO:0044242, GO:0043524, GO:0043277, GO:0042953, GO:0042157, GO:0035909, GO:0035774, GO:0032956, GO:0032429, GO:0032374, GO:0032370, GO:0032092, GO:0031623, GO:0030178, GO:0021987, GO:0014912, GO:0010977, GO:0010942, GO:0010875, GO:0010715, GO:0008283, GO:0007568, GO:0007205, GO:0007204, GO:0007041, GO:0006909, GO:0006909, GO:0006898, GO:0006898, GO:0006898, GO:0006629, GO:0002265, GO:0001523, negative regulation of platelet-derived growth factor receptor-beta signaling pathway, positive regulation of lysosomal protein catabolic process, negative regulation of metallopeptidase activity, positive regulation of vascular associated smooth muscle cell migration, cellular response to amyloid-beta, positive regulation of transcytosis, positive regulation of cholesterol import, positive regulation of protein localization to plasma membrane, positive regulation of amyloid-beta clearance, positive regulation of amyloid-beta clearance, positive regulation of Schwann cell migration, transport across blood-brain barrier, transport across blood-brain barrier, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance by transcytosis, amyloid-beta clearance by transcytosis, amyloid-beta clearance, amyloid-beta clearance, positive regulation of ERK1 and ERK2 cascade, chemoattraction of axon, negative regulation of focal adhesion assembly, negative regulation of cytosolic calcium ion concentration, positive regulation of phagocytosis, positive regulation of collateral sprouting of injured axon, positive regulation of axon extension involved in regeneration, positive regulation of endocytosis, transcytosis, cellular lipid catabolic process, negative regulation of neuron apoptotic process, apoptotic cell clearance, lipoprotein transport, lipoprotein metabolic process, aorta morphogenesis, positive regulation of insulin secretion involved in cellular response to glucose stimulus, regulation of actin cytoskeleton organization, regulation of phospholipase A2 activity, regulation of cholesterol transport, positive regulation of lipid transport, positive regulation of protein binding, receptor internalization, negative regulation of Wnt signaling pathway, cerebral cortex development, negative regulation of smooth muscle cell migration, negative regulation of neuron projection development, positive regulation of cell death, positive regulation of cholesterol efflux, regulation of extracellular matrix disassembly, cell population proliferation, aging, protein kinase C-activating G protein-coupled receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, lysosomal transport, phagocytosis, phagocytosis, receptor-mediated endocytosis, receptor-mediated endocytosis, receptor-mediated endocytosis, lipid metabolic process, astrocyte activation involved in immune response, retinoid metabolic process, 44 82 116 115 207 172 97 112 126 ENSG00000123388 chr12 53973126 53977643 + HOXC11 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 3227 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060272, GO:0048856, GO:0045944, GO:0042733, GO:0009954, GO:0009952, GO:0007492, GO:0006357, GO:0001759, GO:0001656, embryonic skeletal joint morphogenesis, anatomical structure development, positive regulation of transcription by RNA polymerase II, embryonic digit morphogenesis, proximal/distal pattern formation, anterior/posterior pattern specification, endoderm development, regulation of transcription by RNA polymerase II, organ induction, metanephros development, 0 0 0 0 0 0 0 0 0 ENSG00000123395 chr12 52069246 52077494 + ATG101 protein_coding 60673 GO:0005829, GO:0005789, GO:0000407, GO:0000407, cytosol, endoplasmic reticulum membrane, phagophore assembly site, phagophore assembly site, GO:0044877, GO:0042802, GO:0005515, protein-containing complex binding, identical protein binding, protein binding, GO:0016241, GO:0016236, GO:0000045, GO:0000045, regulation of macroautophagy, macroautophagy, autophagosome assembly, autophagosome assembly, 20 21 59 70 35 78 55 39 57 ENSG00000123405 chr12 54292111 54301121 - NFE2 protein_coding 4778 GO:0032993, GO:0016605, GO:0005654, GO:0005634, GO:0000785, protein-DNA complex, PML body, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0050699, GO:0050699, GO:0047485, GO:0043565, GO:0005515, GO:0003677, GO:0000987, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, WW domain binding, WW domain binding, protein N-terminus binding, sequence-specific DNA binding, protein binding, DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0045652, GO:0007599, GO:0007596, GO:0007275, GO:0006357, GO:0006337, positive regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, hemostasis, blood coagulation, multicellular organism development, regulation of transcription by RNA polymerase II, nucleosome disassembly, 1369 1327 1978 1047 1905 1840 1149 1481 1648 ENSG00000123407 chr12 53954834 53958956 + HOXC12 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]. 3228 GO:0005634, nucleus, GO:1990837, GO:1990837, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0007275, GO:0006357, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000123411 chr12 56007659 56038435 + IKZF4 protein_coding Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]. 64375 GO:0032991, GO:0016604, GO:0005654, GO:0005634, GO:0000785, protein-containing complex, nuclear body, nucleoplasm, nucleus, chromatin, GO:0043425, GO:0019904, GO:0008270, GO:0005515, GO:0003700, GO:0003700, GO:0000978, bHLH transcription factor binding, protein domain specific binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051260, GO:0045944, GO:0045892, GO:0006357, protein homooligomerization, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 20 27 20 48 37 44 47 27 24 ENSG00000123415 chr12 54121277 54189008 - SMUG1 protein_coding This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]. 23583 GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0001650, cytosol, nucleolus, nucleoplasm, nucleoplasm, fibrillar center, GO:0019104, GO:0017065, GO:0017065, GO:0005515, GO:0004844, GO:0004844, GO:0003677, GO:0000703, DNA N-glycosylase activity, single-strand selective uracil DNA N-glycosylase activity, single-strand selective uracil DNA N-glycosylase activity, protein binding, uracil DNA N-glycosylase activity, uracil DNA N-glycosylase activity, DNA binding, oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity, GO:0045008, GO:0006284, depyrimidination, base-excision repair, 56 40 46 36 63 73 53 69 86 ENSG00000123416 chr12 49127782 49131397 - TUBA1B protein_coding 10376 GO:0045121, GO:0015630, GO:0005881, GO:0005874, GO:0005874, GO:0005874, GO:0005737, membrane raft, microtubule cytoskeleton, cytoplasmic microtubule, microtubule, microtubule, microtubule, cytoplasm, GO:0031625, GO:0005525, GO:0005515, GO:0005200, GO:0005198, GO:0003924, GO:0003725, ubiquitin protein ligase binding, GTP binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, GTPase activity, double-stranded RNA binding, GO:0071353, GO:0051301, GO:0030705, GO:0007017, GO:0000278, GO:0000226, cellular response to interleukin-4, cell division, cytoskeleton-dependent intracellular transport, microtubule-based process, mitotic cell cycle, microtubule cytoskeleton organization, 1099 1271 1575 602 809 804 522 766 675 ENSG00000123427 chr12 57771492 57782541 + EEF1AKMT3 protein_coding 25895 GO:0032991, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005654, protein-containing complex, cytosol, centrosome, cytoplasm, cytoplasm, nucleoplasm, GO:0031072, GO:0016279, GO:0016279, GO:0008168, GO:0005515, heat shock protein binding, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, methyltransferase activity, protein binding, GO:0018022, GO:0018022, peptidyl-lysine methylation, peptidyl-lysine methylation, 0 0 2 11 2 2 11 3 2 ENSG00000123444 chr11 47572197 47579015 - KBTBD4 protein_coding 55709 101 66 137 47 66 67 57 57 70 ENSG00000123447 chr11 49405091 49415789 - TYRL unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000123453 chr9 133663560 133739955 - SARDH protein_coding This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]. 1757 GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0016491, GO:0008480, oxidoreductase activity, sarcosine dehydrogenase activity, GO:1901053, GO:0055114, GO:0042426, sarcosine catabolic process, oxidation-reduction process, choline catabolic process, 2 1 7 19 0 5 2 0 7 ENSG00000123454 chr9 133635348 133659344 + DBH protein_coding The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]. 1621 GO:0045202, GO:0043231, GO:0042584, GO:0034774, GO:0034774, GO:0034466, GO:0034451, GO:0030667, GO:0030667, GO:0030658, GO:0016021, GO:0016020, GO:0005783, GO:0005615, GO:0005615, GO:0005576, synapse, intracellular membrane-bounded organelle, chromaffin granule membrane, secretory granule lumen, secretory granule lumen, chromaffin granule lumen, centriolar satellite, secretory granule membrane, secretory granule membrane, transport vesicle membrane, integral component of membrane, membrane, endoplasmic reticulum, extracellular space, extracellular space, extracellular region, GO:0031418, GO:0005515, GO:0005507, GO:0005507, GO:0004500, GO:0004500, GO:0003824, L-ascorbic acid binding, protein binding, copper ion binding, copper ion binding, dopamine beta-monooxygenase activity, dopamine beta-monooxygenase activity, catalytic activity, GO:2001236, GO:0120162, GO:0055114, GO:0050900, GO:0048265, GO:0048149, GO:0045907, GO:0042711, GO:0042596, GO:0042593, GO:0042423, GO:0042421, GO:0042421, GO:0042421, GO:0042420, GO:0042420, GO:0042309, GO:0042127, GO:0008542, GO:0007626, GO:0007613, GO:0007268, GO:0006589, GO:0002443, GO:0001975, GO:0001974, GO:0001816, regulation of extrinsic apoptotic signaling pathway, positive regulation of cold-induced thermogenesis, oxidation-reduction process, leukocyte migration, response to pain, behavioral response to ethanol, positive regulation of vasoconstriction, maternal behavior, fear response, glucose homeostasis, catecholamine biosynthetic process, norepinephrine biosynthetic process, norepinephrine biosynthetic process, norepinephrine biosynthetic process, dopamine catabolic process, dopamine catabolic process, homoiothermy, regulation of cell population proliferation, visual learning, locomotory behavior, memory, chemical synaptic transmission, octopamine biosynthetic process, leukocyte mediated immunity, response to amphetamine, blood vessel remodeling, cytokine production, 1 0 3 5 1 2 7 3 7 ENSG00000123472 chr1 46632737 46673867 - ATPAF1 protein_coding This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]. 64756 GO:0005739, mitochondrion, GO:0005515, protein binding, GO:0033615, mitochondrial proton-transporting ATP synthase complex assembly, 49 39 51 49 50 112 54 39 43 ENSG00000123473 chr1 47250139 47314147 - STIL protein_coding This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6491 GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005737, cytosol, centriole, centriole, centrosome, centrosome, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0071539, GO:0071539, GO:0051298, GO:0051298, GO:0051298, GO:0046599, GO:0043066, GO:0035264, GO:0033504, GO:0030903, GO:0030900, GO:0021915, GO:0007368, GO:0007224, GO:0007224, GO:0007052, GO:0007052, GO:0001947, GO:0001843, GO:0001701, GO:0000578, protein localization to centrosome, protein localization to centrosome, centrosome duplication, centrosome duplication, centrosome duplication, regulation of centriole replication, negative regulation of apoptotic process, multicellular organism growth, floor plate development, notochord development, forebrain development, neural tube development, determination of left/right symmetry, smoothened signaling pathway, smoothened signaling pathway, mitotic spindle organization, mitotic spindle organization, heart looping, neural tube closure, in utero embryonic development, embryonic axis specification, 3 2 7 9 2 15 6 2 0 ENSG00000123485 chr2 233833416 233854566 - HJURP protein_coding 55355 GO:0005739, GO:0005730, GO:0005654, GO:0005654, GO:0000777, GO:0000775, mitochondrion, nucleolus, nucleoplasm, nucleoplasm, condensed chromosome kinetochore, chromosome, centromeric region, GO:0042802, GO:0042393, GO:0042393, GO:0005515, GO:0003677, identical protein binding, histone binding, histone binding, protein binding, DNA binding, GO:0051101, GO:0043254, GO:0034080, GO:0034080, GO:0007059, GO:0007049, regulation of DNA binding, regulation of protein-containing complex assembly, CENP-A containing nucleosome assembly, CENP-A containing nucleosome assembly, chromosome segregation, cell cycle, 0 0 0 0 0 4 0 4 2 ENSG00000123496 chrX 115003975 115019977 - IL13RA2 protein_coding The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008]. 3598 GO:0043235, GO:0016021, GO:0009897, GO:0005615, GO:0005576, receptor complex, integral component of membrane, external side of plasma membrane, extracellular space, extracellular region, GO:0019955, GO:0005515, GO:0004896, GO:0004896, cytokine binding, protein binding, cytokine receptor activity, cytokine receptor activity, GO:0043305, GO:0019221, GO:0019221, GO:0016064, GO:0002638, negative regulation of mast cell degranulation, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, immunoglobulin mediated immune response, negative regulation of immunoglobulin production, 0 0 0 0 0 0 0 0 0 ENSG00000123500 chr6 116118923 116158747 - COL10A1 protein_coding This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]. 1300 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005581, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen trimer, extracellular region, GO:0046872, GO:0030020, GO:0030020, GO:0005515, GO:0005201, metal ion binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0030198, GO:0030198, GO:0001501, extracellular matrix organization, extracellular matrix organization, skeletal system development, 2 3 0 0 2 9 2 1 3 ENSG00000123505 chr6 110874770 110895713 + AMD1 protein_coding This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013]. 262 GO:0005829, GO:0005829, cytosol, cytosol, GO:0042802, GO:0019810, GO:0005515, GO:0004014, GO:0004014, identical protein binding, putrescine binding, protein binding, adenosylmethionine decarboxylase activity, adenosylmethionine decarboxylase activity, GO:0046500, GO:0008295, GO:0006597, GO:0006595, GO:0006557, S-adenosylmethionine metabolic process, spermidine biosynthetic process, spermine biosynthetic process, polyamine metabolic process, S-adenosylmethioninamine biosynthetic process, 827 939 1074 1257 2042 1605 993 1086 1063 ENSG00000123545 chr6 96889313 96897881 - NDUFAF4 protein_coding NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]. 29078 GO:0031966, GO:0005743, GO:0005739, GO:0005739, mitochondrial membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005516, GO:0005515, calmodulin binding, protein binding, GO:0032981, GO:0032981, GO:0032981, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, 9 4 12 15 2 35 28 5 24 ENSG00000123552 chr6 99432379 99521728 - USP45 protein_coding The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]. 85015 GO:0005737, GO:0005654, GO:0005634, GO:0001917, cytoplasm, nucleoplasm, nucleus, photoreceptor inner segment, GO:0008270, GO:0008234, GO:0005515, GO:0004843, GO:0004843, GO:0004843, zinc ion binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0070911, GO:0045494, GO:0016579, GO:0016579, GO:0016477, GO:0006511, GO:0006281, GO:0003407, global genome nucleotide-excision repair, photoreceptor cell maintenance, protein deubiquitination, protein deubiquitination, cell migration, ubiquitin-dependent protein catabolic process, DNA repair, neural retina development, 12 8 16 42 16 46 34 16 36 ENSG00000123560 chrX 103773718 103792619 + PLP1 protein_coding This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]. 5354 GO:0045202, GO:0043209, GO:0016021, GO:0005886, GO:0005886, synapse, myelin sheath, integral component of membrane, plasma membrane, plasma membrane, GO:0019911, GO:0005515, GO:0005198, structural constituent of myelin sheath, protein binding, structural molecule activity, GO:0061564, GO:0042759, GO:0031175, GO:0022010, GO:0021762, GO:0014002, GO:0010628, GO:0008366, GO:0007268, GO:0006954, axon development, long-chain fatty acid biosynthetic process, neuron projection development, central nervous system myelination, substantia nigra development, astrocyte development, positive regulation of gene expression, axon ensheathment, chemical synaptic transmission, inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000123561 chrX 106032442 106038738 - SERPINA7 protein_coding There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]. 6906 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0070327, GO:0010951, thyroid hormone transport, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000123562 chrX 103675496 103688158 - MORF4L2 protein_coding 9643 GO:0035267, GO:0005886, GO:0005730, GO:0005654, GO:0005654, GO:0000123, NuA4 histone acetyltransferase complex, plasma membrane, nucleolus, nucleoplasm, nucleoplasm, histone acetyltransferase complex, GO:0005515, protein binding, GO:0051155, GO:0045944, GO:0043968, GO:0043967, GO:0040008, GO:0016575, GO:0016573, GO:0006342, GO:0006281, positive regulation of striated muscle cell differentiation, positive regulation of transcription by RNA polymerase II, histone H2A acetylation, histone H4 acetylation, regulation of growth, histone deacetylation, histone acetylation, chromatin silencing, DNA repair, 2006 2295 2574 6837 8521 7247 5997 4392 4517 ENSG00000123569 chrX 104011147 104013687 - H2BFWT protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Oct 2015]. 158983 GO:0031965, GO:0000786, nuclear membrane, nucleosome, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0006334, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000123570 chrX 103822322 103832228 - RAB9B protein_coding This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]. 51209 GO:0045335, GO:0045335, GO:0030670, GO:0030667, GO:0005886, GO:0005829, GO:0005770, GO:0005764, phagocytic vesicle, phagocytic vesicle, phagocytic vesicle membrane, secretory granule membrane, plasma membrane, cytosol, late endosome, lysosome, GO:0042802, GO:0019003, GO:0005525, GO:0005515, GO:0003924, identical protein binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:0043312, GO:0042147, GO:0032482, GO:0015031, neutrophil degranulation, retrograde transport, endosome to Golgi, Rab protein signal transduction, protein transport, 0 1 0 3 0 0 0 0 0 ENSG00000123572 chrX 105822543 105958610 + NRK protein_coding The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]. 203447 GO:0005737, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, GO:0060721, GO:0048812, GO:0032147, GO:0031532, GO:0031098, GO:0023014, GO:0008285, GO:0007567, GO:0007256, GO:0000165, regulation of spongiotrophoblast cell proliferation, neuron projection morphogenesis, activation of protein kinase activity, actin cytoskeleton reorganization, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, negative regulation of cell population proliferation, parturition, activation of JNKK activity, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000123575 chrX 104166620 104195902 + FAM199X protein_coding 139231 GO:0005515, protein binding, 582 648 824 285 458 454 317 363 343 ENSG00000123576 chrX 104250038 104254933 - ESX1 protein_coding This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]. 80712 GO:0016607, GO:0005737, GO:0005634, GO:0000785, GO:0000785, nuclear speck, cytoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0051726, GO:0045892, GO:0006357, GO:0000122, regulation of cell cycle, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000123584 chrX 149781930 149787737 + MAGEA9 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]. 4108 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000123594 chrX 13318236 13320399 - ATXN3L protein_coding This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]. 92552 GO:0005829, GO:0005634, cytosol, nucleus, GO:0008234, GO:0004843, GO:0004843, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0016579, GO:0016579, GO:0016579, protein deubiquitination, protein deubiquitination, protein deubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000123595 chrX 13689125 13710506 + RAB9A protein_coding 9367 GO:0070062, GO:0045335, GO:0045335, GO:0042470, GO:0032588, GO:0030670, GO:0030133, GO:0005886, GO:0005829, GO:0005789, GO:0005770, GO:0005770, GO:0005764, GO:0005764, extracellular exosome, phagocytic vesicle, phagocytic vesicle, melanosome, trans-Golgi network membrane, phagocytic vesicle membrane, transport vesicle, plasma membrane, cytosol, endoplasmic reticulum membrane, late endosome, late endosome, lysosome, lysosome, GO:0042802, GO:0019003, GO:0005525, GO:0005515, GO:0003924, identical protein binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:0052405, GO:0045921, GO:0042147, GO:0032880, GO:0032482, GO:0015031, negative regulation by host of symbiont molecular function, positive regulation of exocytosis, retrograde transport, endosome to Golgi, regulation of protein localization, Rab protein signal transduction, protein transport, 97 110 128 37 49 58 59 54 73 ENSG00000123600 chr2 171317405 171434802 - METTL8 protein_coding 79828 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0052735, GO:0008174, tRNA (cytosine-3-)-methyltransferase activity, mRNA methyltransferase activity, GO:0080009, GO:0030488, mRNA methylation, tRNA methylation, 9 7 33 31 7 30 27 11 28 ENSG00000123607 chr2 165857475 165953843 - TTC21B protein_coding This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]. 79809 GO:0097542, GO:0030991, GO:0030991, GO:0005929, GO:0005856, GO:0005737, GO:0000785, ciliary tip, intraciliary transport particle A, intraciliary transport particle A, cilium, cytoskeleton, cytoplasm, chromatin, GO:1905799, GO:1903999, GO:0097499, GO:0090263, GO:0061512, GO:0061512, GO:0060020, GO:0035735, GO:0035721, GO:0021798, GO:0021702, GO:0021591, GO:0010628, GO:0008589, GO:0007224, GO:0006357, regulation of intraciliary retrograde transport, negative regulation of eating behavior, protein localization to non-motile cilium, positive regulation of canonical Wnt signaling pathway, protein localization to cilium, protein localization to cilium, Bergmann glial cell differentiation, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, forebrain dorsal/ventral pattern formation, cerebellar Purkinje cell differentiation, ventricular system development, positive regulation of gene expression, regulation of smoothened signaling pathway, smoothened signaling pathway, regulation of transcription by RNA polymerase II, 77 69 100 100 103 172 131 75 134 ENSG00000123609 chr2 151270465 151290057 - NMI protein_coding NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008]. 9111 GO:0005829, GO:0005737, GO:0005737, GO:0005654, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0042802, GO:0005515, GO:0003712, identical protein binding, protein binding, transcription coregulator activity, GO:1903506, GO:1902524, GO:0060333, GO:0045824, GO:0032688, GO:0032687, GO:0007259, GO:0006954, GO:0006366, regulation of nucleic acid-templated transcription, positive regulation of protein K48-linked ubiquitination, interferon-gamma-mediated signaling pathway, negative regulation of innate immune response, negative regulation of interferon-beta production, negative regulation of interferon-alpha production, receptor signaling pathway via JAK-STAT, inflammatory response, transcription by RNA polymerase II, 1562 1195 2200 610 1090 820 753 1030 662 ENSG00000123610 chr2 151357592 151380048 + TNFAIP6 protein_coding The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]. 7130 GO:1904813, GO:1904724, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular space, extracellular region, GO:0005540, GO:0005515, hyaluronic acid binding, protein binding, GO:0050728, GO:0050728, GO:0043312, GO:0030728, GO:0030335, GO:0007267, GO:0007165, GO:0007155, GO:0006954, negative regulation of inflammatory response, negative regulation of inflammatory response, neutrophil degranulation, ovulation, positive regulation of cell migration, cell-cell signaling, signal transduction, cell adhesion, inflammatory response, 792 775 2963 229 448 646 303 362 582 ENSG00000123612 chr2 157526767 157629005 - ACVR1C protein_coding ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]. 130399 GO:0048179, GO:0048179, GO:0043235, GO:0005886, GO:0005886, activin receptor complex, activin receptor complex, receptor complex, plasma membrane, plasma membrane, GO:0046872, GO:0038100, GO:0019838, GO:0016361, GO:0016361, GO:0005524, GO:0004674, GO:0004674, metal ion binding, nodal binding, growth factor binding, activin receptor activity, type I, activin receptor activity, type I, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1901383, GO:1901164, GO:0071363, GO:0046676, GO:0043280, GO:0043065, GO:0038092, GO:0032924, GO:0032868, GO:0030262, GO:0030154, GO:0019915, GO:0009749, GO:0007399, GO:0006468, GO:0006468, GO:0002021, GO:0001834, negative regulation of chorionic trophoblast cell proliferation, negative regulation of trophoblast cell migration, cellular response to growth factor stimulus, negative regulation of insulin secretion, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, nodal signaling pathway, activin receptor signaling pathway, response to insulin, apoptotic nuclear changes, cell differentiation, lipid storage, response to glucose, nervous system development, protein phosphorylation, protein phosphorylation, response to dietary excess, trophectodermal cell proliferation, 10 1 1 14 3 8 9 6 9 ENSG00000123636 chr2 159318979 159616692 - BAZ2B protein_coding This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]. 29994 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0006357, GO:0006338, regulation of transcription by RNA polymerase II, chromatin remodeling, 5788 6423 7029 2849 5353 4491 3650 3939 3584 ENSG00000123643 chr5 151437046 151492381 + SLC36A1 protein_coding This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 206358 GO:0016021, GO:0005886, GO:0005783, GO:0005765, integral component of membrane, plasma membrane, endoplasmic reticulum, lysosomal membrane, GO:0022858, GO:0015193, GO:0015187, GO:0015180, GO:0015171, GO:0015171, GO:0005515, GO:0005368, GO:0005280, alanine transmembrane transporter activity, L-proline transmembrane transporter activity, glycine transmembrane transporter activity, L-alanine transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, taurine transmembrane transporter activity, amino acid:proton symporter activity, GO:1902600, GO:0089718, GO:0035524, GO:0032328, GO:0015816, GO:0015808, GO:0015734, GO:0006865, GO:0006811, GO:0003333, proton transmembrane transport, amino acid import across plasma membrane, proline transmembrane transport, alanine transport, glycine transport, L-alanine transport, taurine transport, amino acid transport, ion transport, amino acid transmembrane transport, 556 675 434 517 979 387 679 647 330 ENSG00000123684 chr1 211743457 211830772 - LPGAT1 protein_coding This gene encodes a member of the lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 9926 GO:0016021, GO:0016020, GO:0012505, GO:0005789, GO:0005789, GO:0005783, GO:0005737, integral component of membrane, membrane, endomembrane system, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, GO:0071617, GO:0016746, GO:0003846, lysophospholipid acyltransferase activity, transferase activity, transferring acyl groups, 2-acylglycerol O-acyltransferase activity, GO:0045723, GO:0036149, GO:0036148, GO:0019432, GO:0008654, positive regulation of fatty acid biosynthetic process, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, triglyceride biosynthetic process, phospholipid biosynthetic process, 2984 3120 4372 1312 2420 2365 1702 1866 2085 ENSG00000123685 chr1 212686418 212699985 - BATF3 protein_coding This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009]. 55509 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097028, GO:0043011, GO:0009615, GO:0006357, GO:0000122, dendritic cell differentiation, myeloid dendritic cell differentiation, response to virus, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 4 3 8 3 10 5 3 5 10 ENSG00000123689 chr1 209675420 209676388 + G0S2 protein_coding 50486 GO:0005811, GO:0005739, GO:0005739, lipid droplet, mitochondrion, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:2001238, GO:2001238, GO:0120162, GO:0097191, GO:0019216, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of cold-induced thermogenesis, extrinsic apoptotic signaling pathway, regulation of lipid metabolic process, 2503 3277 5773 110224 96931 161451 151151 130977 177755 ENSG00000123700 chr17 70168673 70180048 + KCNJ2 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]. 3759 GO:0043197, GO:0043025, GO:0031224, GO:0030315, GO:0014704, GO:0008076, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005791, GO:0005790, dendritic spine, neuronal cell body, intrinsic component of membrane, T-tubule, intercalated disc, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, rough endoplasmic reticulum, smooth endoplasmic reticulum, GO:0086008, GO:0042802, GO:0005546, GO:0005515, GO:0005242, GO:0005242, voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization, identical protein binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, inward rectifier potassium channel activity, inward rectifier potassium channel activity, GO:1990573, GO:1990573, GO:1901381, GO:0090076, GO:0086091, GO:0086013, GO:0086013, GO:0086012, GO:0086011, GO:0086004, GO:0086002, GO:0071805, GO:0071260, GO:0061337, GO:0060306, GO:0060075, GO:0055119, GO:0051289, GO:0034765, GO:0030007, GO:0015693, GO:0014861, GO:0006813, potassium ion import across plasma membrane, potassium ion import across plasma membrane, positive regulation of potassium ion transmembrane transport, relaxation of skeletal muscle, regulation of heart rate by cardiac conduction, membrane repolarization during cardiac muscle cell action potential, membrane repolarization during cardiac muscle cell action potential, membrane depolarization during cardiac muscle cell action potential, membrane repolarization during action potential, regulation of cardiac muscle cell contraction, cardiac muscle cell action potential involved in contraction, potassium ion transmembrane transport, cellular response to mechanical stimulus, cardiac conduction, regulation of membrane repolarization, regulation of resting membrane potential, relaxation of cardiac muscle, protein homotetramerization, regulation of ion transmembrane transport, cellular potassium ion homeostasis, magnesium ion transport, regulation of skeletal muscle contraction via regulation of action potential, potassium ion transport, 2894 1154 6189 390 487 634 556 403 619 ENSG00000123728 chrX 132203024 132219480 - RAP2C protein_coding The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. 57826 GO:0070821, GO:0070062, GO:0055038, GO:0044291, GO:0005923, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005737, tertiary granule membrane, extracellular exosome, recycling endosome membrane, cell-cell contact zone, bicellular tight junction, plasma membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0019003, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003713, GDP binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, transcription coactivator activity, GO:1903508, GO:0090557, GO:0090557, GO:0061097, GO:0043312, GO:0032486, GO:0032486, GO:0031954, GO:0030336, GO:0030336, GO:0030033, positive regulation of nucleic acid-templated transcription, establishment of endothelial intestinal barrier, establishment of endothelial intestinal barrier, regulation of protein tyrosine kinase activity, neutrophil degranulation, Rap protein signal transduction, Rap protein signal transduction, positive regulation of protein autophosphorylation, negative regulation of cell migration, negative regulation of cell migration, microvillus assembly, 2067 1786 3025 606 987 1361 870 940 1250 ENSG00000123737 chr4 121801317 121817021 + EXOSC9 protein_coding This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 5393 GO:0070062, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000228, GO:0000178, GO:0000177, GO:0000176, GO:0000176, GO:0000176, extracellular exosome, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nuclear chromosome, exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), nuclear exosome (RNase complex), nuclear exosome (RNase complex), GO:0035925, GO:0017091, GO:0005515, GO:0004532, GO:0003723, GO:0003723, GO:0001102, GO:0000175, mRNA 3'-UTR AU-rich region binding, AU-rich element binding, protein binding, exoribonuclease activity, RNA binding, RNA binding, RNA polymerase II activating transcription factor binding, 3'-5'-exoribonuclease activity, GO:0071042, GO:0071038, GO:0071035, GO:0071035, GO:0071028, GO:0071028, GO:0045944, GO:0043928, GO:0043928, GO:0043928, GO:0043488, GO:0034476, GO:0034475, GO:0034473, GO:0034427, GO:0030307, GO:0016075, GO:0006955, GO:0006364, GO:0006364, GO:0000956, GO:0000467, nuclear polyadenylation-dependent mRNA catabolic process, nuclear polyadenylation-dependent tRNA catabolic process, nuclear polyadenylation-dependent rRNA catabolic process, nuclear polyadenylation-dependent rRNA catabolic process, nuclear mRNA surveillance, nuclear mRNA surveillance, positive regulation of transcription by RNA polymerase II, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, U5 snRNA 3'-end processing, U4 snRNA 3'-end processing, U1 snRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', positive regulation of cell growth, rRNA catabolic process, immune response, rRNA processing, rRNA processing, nuclear-transcribed mRNA catabolic process, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 63 59 113 146 73 152 91 60 89 ENSG00000123739 chr4 109709989 109730077 - PLA2G12A protein_coding Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]. 81579 GO:0005737, GO:0005576, GO:0005576, cytoplasm, extracellular region, extracellular region, GO:0102568, GO:0102567, GO:0047498, GO:0005515, GO:0005509, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, protein binding, calcium ion binding, phospholipase A2 activity, GO:0050482, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0016042, GO:0008150, GO:0006654, arachidonic acid secretion, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, lipid catabolic process, biological_process, phosphatidic acid biosynthetic process, 5 10 17 33 12 43 17 3 25 ENSG00000123810 chr19 41354421 41364173 - B9D2 protein_coding This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]. 80776 GO:0036064, GO:0036038, GO:0036038, GO:0016020, GO:0005829, GO:0005813, GO:0005634, ciliary basal body, MKS complex, MKS complex, membrane, cytosol, centrosome, nucleus, GO:0043015, GO:0005515, gamma-tubulin binding, protein binding, GO:0097711, GO:0060271, GO:0060271, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, 153 133 199 66 119 89 75 91 74 ENSG00000123815 chr19 40691529 40718207 - COQ8B protein_coding This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 79934 GO:0031314, GO:0016021, GO:0005886, GO:0005829, GO:0005739, extrinsic component of mitochondrial inner membrane, integral component of membrane, plasma membrane, cytosol, mitochondrion, GO:0016301, GO:0005524, GO:0004672, kinase activity, ATP binding, protein kinase activity, GO:0021692, GO:0006744, GO:0006744, GO:0006468, cerebellar Purkinje cell layer morphogenesis, ubiquinone biosynthetic process, ubiquinone biosynthetic process, protein phosphorylation, 268 303 321 173 291 236 256 253 178 ENSG00000123836 chr1 207034366 207081024 + PFKFB2 protein_coding The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5208 GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, nucleoplasm, GO:0019901, GO:0005524, GO:0005515, GO:0004331, GO:0003873, GO:0003873, protein kinase binding, ATP binding, protein binding, fructose-2,6-bisphosphate 2-phosphatase activity, 6-phosphofructo-2-kinase activity, 6-phosphofructo-2-kinase activity, GO:0046835, GO:0045821, GO:0033133, GO:0032024, GO:0016311, GO:0009749, GO:0006096, GO:0006089, GO:0006007, GO:0006003, GO:0006000, carbohydrate phosphorylation, positive regulation of glycolytic process, positive regulation of glucokinase activity, positive regulation of insulin secretion, dephosphorylation, response to glucose, glycolytic process, lactate metabolic process, glucose catabolic process, fructose 2,6-bisphosphate metabolic process, fructose metabolic process, 315 261 502 441 349 710 513 311 448 ENSG00000123838 chr1 207104262 207144972 + C4BPA protein_coding This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]. 722 GO:0072562, GO:0005886, GO:0005615, GO:0005615, GO:0005576, blood microparticle, plasma membrane, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0003723, protein binding, RNA binding, GO:1903027, GO:0045959, GO:0045732, GO:0045087, GO:0030449, GO:0009609, GO:0006958, regulation of opsonization, negative regulation of complement activation, classical pathway, positive regulation of protein catabolic process, innate immune response, regulation of complement activation, response to symbiotic bacterium, complement activation, classical pathway, 19 3 29 10 0 10 22 5 1 ENSG00000123843 chr1 207088842 207099993 + C4BPB protein_coding This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]. 725 GO:0005886, GO:0005615, GO:0005576, plasma membrane, extracellular space, extracellular region, GO:0005515, protein binding, GO:1903027, GO:0045959, GO:0045732, GO:0045087, GO:0030449, GO:0009609, GO:0007596, GO:0006958, regulation of opsonization, negative regulation of complement activation, classical pathway, positive regulation of protein catabolic process, innate immune response, regulation of complement activation, response to symbiotic bacterium, blood coagulation, complement activation, classical pathway, 1 1 2 0 2 0 1 0 0 ENSG00000123870 chr19 52588505 52597345 + ZNF137P transcribed_unprocessed_pseudogene 41 62 56 68 80 99 93 56 52 ENSG00000123892 chr11 88113242 88175467 - RAB38 protein_coding 23682 GO:0045335, GO:0044233, GO:0042470, GO:0042470, GO:0033162, GO:0033162, GO:0031905, GO:0030670, GO:0016020, GO:0012505, GO:0005886, GO:0005829, GO:0005802, GO:0005783, GO:0005769, GO:0005764, GO:0005739, phagocytic vesicle, mitochondria-associated endoplasmic reticulum membrane, melanosome, melanosome, melanosome membrane, melanosome membrane, early endosome lumen, phagocytic vesicle membrane, membrane, endomembrane system, plasma membrane, cytosol, trans-Golgi network, endoplasmic reticulum, early endosome, lysosome, mitochondrion, GO:0036461, GO:0035651, GO:0035650, GO:0035612, GO:0030742, GO:0005525, GO:0005515, GO:0003924, GO:0003924, BLOC-2 complex binding, AP-3 adaptor complex binding, AP-1 adaptor complex binding, AP-2 adaptor complex binding, GTP-dependent protein binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:2001247, GO:1903232, GO:1903232, GO:0090383, GO:0072657, GO:0060155, GO:0043687, GO:0035646, GO:0032438, GO:0016192, GO:0015031, GO:0007264, GO:0007005, GO:0006886, positive regulation of phosphatidylcholine biosynthetic process, melanosome assembly, melanosome assembly, phagosome acidification, protein localization to membrane, platelet dense granule organization, post-translational protein modification, endosome to melanosome transport, melanosome organization, vesicle-mediated transport, protein transport, small GTPase mediated signal transduction, mitochondrion organization, intracellular protein transport, 4 3 0 13 4 2 0 5 0 ENSG00000123901 chr11 94377311 94401419 - GPR83 protein_coding 10888 GO:0097730, GO:0016021, GO:0005929, GO:0005886, non-motile cilium, integral component of membrane, cilium, plasma membrane, GO:0004983, GO:0004930, neuropeptide Y receptor activity, G protein-coupled receptor activity, GO:0051384, GO:0007218, GO:0007186, response to glucocorticoid, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 1 0 5 1 19 9 4 9 ENSG00000123908 chr8 140520156 140635619 - AGO2 protein_coding This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 27161 GO:1990904, GO:0070578, GO:0070062, GO:0030425, GO:0030054, GO:0016442, GO:0016442, GO:0016442, GO:0016442, GO:0016020, GO:0005845, GO:0005844, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000932, ribonucleoprotein complex, RISC-loading complex, extracellular exosome, dendrite, cell junction, RISC complex, RISC complex, RISC complex, RISC complex, membrane, mRNA cap binding complex, polysome, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, P-body, GO:0098808, GO:0090624, GO:0090624, GO:0070551, GO:0046872, GO:0035198, GO:0035198, GO:0035198, GO:0035197, GO:0035197, GO:0008022, GO:0005515, GO:0004521, GO:0004521, GO:0003743, GO:0003727, GO:0003725, GO:0003723, GO:0001046, GO:0000993, GO:0000340, mRNA cap binding, endoribonuclease activity, cleaving miRNA-paired mRNA, endoribonuclease activity, cleaving miRNA-paired mRNA, endoribonuclease activity, cleaving siRNA-paired mRNA, metal ion binding, miRNA binding, miRNA binding, miRNA binding, siRNA binding, siRNA binding, protein C-terminus binding, protein binding, endoribonuclease activity, endoribonuclease activity, translation initiation factor activity, single-stranded RNA binding, double-stranded RNA binding, RNA binding, core promoter sequence-specific DNA binding, RNA polymerase II complex binding, RNA 7-methylguanosine cap binding, GO:1905618, GO:1901165, GO:1900153, GO:0090625, GO:0090625, GO:0090502, GO:0060964, GO:0060213, GO:0045975, GO:0045947, GO:0045944, GO:0045766, GO:0042985, GO:0035280, GO:0035279, GO:0035279, GO:0035278, GO:0035278, GO:0035196, GO:0035194, GO:0035087, GO:0035087, GO:0031054, GO:0031047, GO:0030422, GO:0010629, GO:0010628, GO:0010586, GO:0010501, GO:0010501, GO:0009791, GO:0007223, GO:0006413, GO:0006412, positive regulation of miRNA mediated inhibition of translation, positive regulation of trophoblast cell migration, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, mRNA cleavage involved in gene silencing by siRNA, mRNA cleavage involved in gene silencing by siRNA, RNA phosphodiester bond hydrolysis, endonucleolytic, regulation of gene silencing by miRNA, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, positive regulation of translation, ncRNA-mediated, negative regulation of translational initiation, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, negative regulation of amyloid precursor protein biosynthetic process, miRNA loading onto RISC involved in gene silencing by miRNA, mRNA cleavage involved in gene silencing by miRNA, mRNA cleavage involved in gene silencing by miRNA, miRNA mediated inhibition of translation, miRNA mediated inhibition of translation, production of miRNAs involved in gene silencing by miRNA, post-transcriptional gene silencing by RNA, siRNA loading onto RISC involved in RNA interference, siRNA loading onto RISC involved in RNA interference, pre-miRNA processing, gene silencing by RNA, production of siRNA involved in RNA interference, negative regulation of gene expression, positive regulation of gene expression, miRNA metabolic process, RNA secondary structure unwinding, RNA secondary structure unwinding, post-embryonic development, Wnt signaling pathway, calcium modulating pathway, translational initiation, translation, 2580 2786 3291 1665 2327 2083 2066 1724 1646 ENSG00000123933 chr4 2247432 2262294 - MXD4 protein_coding This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008]. 10608 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046983, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 377 431 622 272 368 355 320 290 396 ENSG00000123965 chr7 74894116 74897835 + PMS2P5 unprocessed_pseudogene 0 1 0 0 2 0 0 1 0 ENSG00000123975 chr9 89311198 89316703 + CKS2 protein_coding CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]. 1164 GO:0019005, GO:0000307, SCF ubiquitin ligase complex, cyclin-dependent protein kinase holoenzyme complex, GO:0061575, GO:0043130, GO:0042393, GO:0019901, GO:0005515, GO:0003682, cyclin-dependent protein serine/threonine kinase activator activity, ubiquitin binding, histone binding, protein kinase binding, protein binding, chromatin binding, GO:0051301, GO:0044772, GO:0008283, GO:0007346, GO:0007127, GO:0006357, cell division, mitotic cell cycle phase transition, cell population proliferation, regulation of mitotic cell cycle, meiosis I, regulation of transcription by RNA polymerase II, 47 67 75 2807 3870 1831 1555 1643 1194 ENSG00000123977 chr2 227871054 227924344 + DAW1 protein_coding 164781 GO:0005929, GO:0005575, cilium, cellular_component, GO:0005515, protein binding, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000123983 chr2 222860934 222944639 + ACSL3 protein_coding The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 2181 GO:0048471, GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005811, GO:0005811, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0005778, GO:0005741, perinuclear region of cytoplasm, integral component of membrane, membrane, membrane, plasma membrane, lipid droplet, lipid droplet, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, peroxisomal membrane, mitochondrial outer membrane, GO:0102391, GO:0047676, GO:0019904, GO:0019901, GO:0005524, GO:0005515, GO:0004467, GO:0004467, GO:0004467, GO:0003996, decanoate-CoA ligase activity, arachidonate-CoA ligase activity, protein domain specific binding, protein kinase binding, ATP binding, protein binding, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, acyl-CoA ligase activity, GO:2001247, GO:0051047, GO:0044539, GO:0042998, GO:0035338, GO:0035336, GO:0034379, GO:0030182, GO:0014070, GO:0007584, GO:0007420, GO:0006633, GO:0001676, GO:0001676, GO:0001676, positive regulation of phosphatidylcholine biosynthetic process, positive regulation of secretion, long-chain fatty acid import into cell, positive regulation of Golgi to plasma membrane protein transport, long-chain fatty-acyl-CoA biosynthetic process, long-chain fatty-acyl-CoA metabolic process, very-low-density lipoprotein particle assembly, neuron differentiation, response to organic cyclic compound, response to nutrient, brain development, fatty acid biosynthetic process, long-chain fatty acid metabolic process, long-chain fatty acid metabolic process, long-chain fatty acid metabolic process, 264 203 473 250 309 393 278 231 355 ENSG00000123989 chr2 219538947 219543787 - CHPF protein_coding 79586 GO:0032580, GO:0016021, GO:0005829, GO:0005759, GO:0000139, Golgi cisterna membrane, integral component of membrane, cytosol, mitochondrial matrix, Golgi membrane, GO:0050510, GO:0047238, GO:0047238, GO:0046872, GO:0008376, N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, metal ion binding, acetylgalactosaminyltransferase activity, GO:0030206, GO:0030206, GO:0030206, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, 4 5 11 4 0 12 20 6 9 ENSG00000123992 chr2 219373527 219400022 - DNPEP protein_coding The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 23549 GO:0072562, GO:0005829, GO:0005737, GO:0005634, blood microparticle, cytosol, cytoplasm, nucleus, GO:0042802, GO:0008270, GO:0008237, GO:0005515, GO:0004177, identical protein binding, zinc ion binding, metallopeptidase activity, protein binding, aminopeptidase activity, GO:0006518, GO:0006508, peptide metabolic process, proteolysis, 30 28 52 64 46 84 63 27 64 ENSG00000123999 chr2 219569162 219575713 + INHA protein_coding This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016]. 3623 GO:0043513, GO:0043512, GO:0043025, GO:0034673, GO:0005737, GO:0005615, GO:0005576, GO:0001917, GO:0001750, inhibin B complex, inhibin A complex, neuronal cell body, inhibin-betaglycan-ActRII complex, cytoplasm, extracellular space, extracellular region, photoreceptor inner segment, photoreceptor outer segment, GO:0044877, GO:0034711, GO:0008083, GO:0005515, GO:0005515, GO:0005179, GO:0005125, GO:0005125, GO:0005102, protein-containing complex binding, inhibin binding, growth factor activity, protein binding, protein binding, hormone activity, cytokine activity, cytokine activity, signaling receptor binding, GO:0060395, GO:0051726, GO:0046882, GO:0046881, GO:0045786, GO:0045650, GO:0045578, GO:0042541, GO:0042326, GO:0042127, GO:0032689, GO:0030218, GO:0030154, GO:0010862, GO:0008584, GO:0007267, GO:0007166, GO:0007165, GO:0007050, GO:0001541, GO:0001501, SMAD protein signal transduction, regulation of cell cycle, negative regulation of follicle-stimulating hormone secretion, positive regulation of follicle-stimulating hormone secretion, negative regulation of cell cycle, negative regulation of macrophage differentiation, negative regulation of B cell differentiation, hemoglobin biosynthetic process, negative regulation of phosphorylation, regulation of cell population proliferation, negative regulation of interferon-gamma production, erythrocyte differentiation, cell differentiation, positive regulation of pathway-restricted SMAD protein phosphorylation, male gonad development, cell-cell signaling, cell surface receptor signaling pathway, signal transduction, cell cycle arrest, ovarian follicle development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000124003 chr2 222671786 222709930 + MOGAT1 protein_coding Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008]. 116255 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0008374, GO:0004144, GO:0003846, O-acyltransferase activity, diacylglycerol O-acyltransferase activity, 2-acylglycerol O-acyltransferase activity, GO:0019432, GO:0019432, GO:0019432, GO:0006651, GO:0006629, GO:0006071, triglyceride biosynthetic process, triglyceride biosynthetic process, triglyceride biosynthetic process, diacylglycerol biosynthetic process, lipid metabolic process, glycerol metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000124006 chr2 219550729 219571859 - OBSL1 protein_coding Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]. 23363 GO:1990393, GO:0048471, GO:0048471, GO:0045202, GO:0031430, GO:0030018, GO:0014704, GO:0005829, GO:0005813, GO:0005794, GO:0005737, 3M complex, perinuclear region of cytoplasm, perinuclear region of cytoplasm, synapse, M band, Z disc, intercalated disc, cytosol, centrosome, Golgi apparatus, cytoplasm, GO:0008093, GO:0005515, cytoskeletal anchor activity, protein binding, GO:0055003, GO:0050775, GO:0043687, GO:0034067, GO:0010842, GO:0007416, GO:0007156, GO:0007088, GO:0007030, GO:0007010, GO:0000226, cardiac myofibril assembly, positive regulation of dendrite morphogenesis, post-translational protein modification, protein localization to Golgi apparatus, retina layer formation, synapse assembly, homophilic cell adhesion via plasma membrane adhesion molecules, regulation of mitotic nuclear division, Golgi organization, cytoskeleton organization, microtubule cytoskeleton organization, 1 0 0 0 2 1 2 0 0 ENSG00000124019 chr2 224378698 224402085 - FAM124B protein_coding 79843 GO:0005739, GO:0005654, GO:0005654, mitochondrion, nucleoplasm, nucleoplasm, GO:0005515, protein binding, 1 4 7 0 0 0 0 0 0 ENSG00000124067 chr16 67943474 67969601 - SLC12A4 protein_coding This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]. 6560 GO:0045202, GO:0016020, GO:0005887, GO:0005886, GO:0005765, synapse, membrane, integral component of plasma membrane, plasma membrane, lysosomal membrane, GO:0019901, GO:0015379, GO:0008519, GO:0005515, protein kinase binding, potassium:chloride symporter activity, ammonium transmembrane transporter activity, protein binding, GO:1990573, GO:1902476, GO:0140157, GO:0055075, GO:0055064, GO:0007268, GO:0006884, GO:0006811, potassium ion import across plasma membrane, chloride transmembrane transport, ammonium import across plasma membrane, potassium ion homeostasis, chloride ion homeostasis, chemical synaptic transmission, cell volume homeostasis, ion transport, 247 339 308 243 293 235 275 291 283 ENSG00000124074 chr16 67662945 67667265 - ENKD1 protein_coding 84080 GO:0097546, GO:0015630, GO:0005881, GO:0005881, ciliary base, microtubule cytoskeleton, cytoplasmic microtubule, cytoplasmic microtubule, GO:0005515, protein binding, 78 83 57 41 80 68 58 57 49 ENSG00000124089 chr20 56248732 56249815 + MC3R protein_coding This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]. 4159 GO:0005887, GO:0005886, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042923, GO:0017046, GO:0005515, GO:0004980, GO:0004980, GO:0004977, GO:0004930, neuropeptide binding, peptide hormone binding, protein binding, melanocyte-stimulating hormone receptor activity, melanocyte-stimulating hormone receptor activity, melanocortin receptor activity, G protein-coupled receptor activity, GO:0060259, GO:0055078, GO:0045475, GO:0042309, GO:0032922, GO:0019222, GO:0008217, GO:0007200, GO:0007189, GO:0007189, GO:0007187, GO:0007186, GO:0002027, regulation of feeding behavior, sodium ion homeostasis, locomotor rhythm, homoiothermy, circadian regulation of gene expression, regulation of metabolic process, regulation of blood pressure, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, regulation of heart rate, 0 0 0 0 0 0 0 0 0 ENSG00000124091 chr20 56491492 56525925 - GCNT7 protein_coding 140687 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0016757, transferase activity, transferring glycosyl groups, GO:0006486, protein glycosylation, 251 356 247 248 301 284 257 194 239 ENSG00000124092 chr20 57495966 57525652 - CTCFL protein_coding CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]. 140690 GO:0016604, GO:0005829, GO:0005694, GO:0005654, GO:0005634, GO:0005634, nuclear body, cytosol, chromosome, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0043565, GO:0043035, GO:0042393, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000976, metal ion binding, sequence-specific DNA binding, chromatin insulator sequence binding, histone binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0051569, GO:0045944, GO:0045893, GO:0043046, GO:0016571, GO:0010628, GO:0007049, GO:0006357, GO:0006349, GO:0006349, regulation of histone H3-K4 methylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, DNA methylation involved in gamete generation, histone methylation, positive regulation of gene expression, cell cycle, regulation of transcription by RNA polymerase II, regulation of gene expression by genetic imprinting, regulation of gene expression by genetic imprinting, 0 0 0 0 0 0 0 0 0 ENSG00000124097 chr20 57488392 57489027 - HMGB1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000124098 chr20 56358915 56368663 + FAM210B protein_coding 116151 GO:0031224, GO:0016021, GO:0005741, GO:0005739, intrinsic component of membrane, integral component of membrane, mitochondrial outer membrane, mitochondrion, GO:0005515, protein binding, GO:0071392, GO:0045648, GO:0043249, cellular response to estradiol stimulus, positive regulation of erythrocyte differentiation, erythrocyte maturation, 116 131 99 91 68 40 66 59 59 ENSG00000124102 chr20 45174876 45176544 + PI3 protein_coding This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014]. 5266 GO:0031012, GO:0005829, GO:0005615, GO:0005576, GO:0001533, GO:0001533, extracellular matrix, cytosol, extracellular space, extracellular region, cornified envelope, cornified envelope, GO:0030280, GO:0004867, GO:0004866, structural constituent of skin epidermis, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0070268, GO:0045087, GO:0019731, GO:0019730, GO:0018149, GO:0010951, GO:0007620, cornification, innate immune response, antibacterial humoral response, antimicrobial humoral response, peptide cross-linking, negative regulation of endopeptidase activity, copulation, 1409 933 2377 460 527 490 664 595 590 ENSG00000124103 chr20 56517187 56526142 + FAM209A protein_coding 200232 GO:0070062, GO:0016021, GO:0005634, extracellular exosome, integral component of membrane, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 78 58 90 76 90 96 64 91 71 ENSG00000124104 chr20 45833810 45843275 + SNX21 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 90203 GO:0031901, GO:0030659, early endosome membrane, cytoplasmic vesicle membrane, GO:0032266, GO:0005546, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, GO:0015031, protein transport, 27 41 41 72 75 43 54 55 45 ENSG00000124107 chr20 45252239 45254564 - SLPI protein_coding This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014]. 6590 GO:0070062, GO:0062023, GO:0062023, GO:0035580, GO:0005794, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, specific granule lumen, Golgi apparatus, extracellular space, extracellular space, extracellular region, GO:0019899, GO:0005515, GO:0004867, GO:0004867, GO:0004866, GO:0003729, GO:0003677, enzyme binding, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, mRNA binding, DNA binding, GO:0045087, GO:0045087, GO:0045071, GO:0043312, GO:0035821, GO:0032496, GO:0032091, GO:0019731, GO:0019731, GO:0019731, GO:0010951, GO:0006955, innate immune response, innate immune response, negative regulation of viral genome replication, neutrophil degranulation, modulation of process of other organism, response to lipopolysaccharide, negative regulation of protein binding, antibacterial humoral response, antibacterial humoral response, antibacterial humoral response, negative regulation of endopeptidase activity, immune response, 562 299 456 134 175 114 176 195 116 ENSG00000124116 chr20 45747944 45791932 - WFDC3 protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 140686 GO:0005615, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0019731, GO:0010951, innate immune response, antibacterial humoral response, negative regulation of endopeptidase activity, 1 5 5 0 12 12 2 6 7 ENSG00000124120 chr20 44475886 44494603 + TTPAL protein_coding 79183 GO:0016020, membrane, GO:1902936, phosphatidylinositol bisphosphate binding, 615 710 1305 529 468 741 442 330 516 ENSG00000124126 chr20 48624252 48827883 - PREX1 protein_coding The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]. 57580 GO:0048471, GO:0043198, GO:0030426, GO:0005886, GO:0005886, GO:0005829, GO:0005829, perinuclear region of cytoplasm, dendritic shaft, growth cone, plasma membrane, plasma membrane, cytosol, cytosol, GO:0019899, GO:0005543, GO:0005515, GO:0005096, GO:0005085, GO:0005085, enzyme binding, phospholipid binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1900026, GO:0051056, GO:0050773, GO:0043547, GO:0043065, GO:0042119, GO:0035556, GO:0030833, GO:0030593, GO:0030335, GO:0030217, GO:0030041, GO:0007186, GO:0007186, GO:0006801, positive regulation of substrate adhesion-dependent cell spreading, regulation of small GTPase mediated signal transduction, regulation of dendrite development, positive regulation of GTPase activity, positive regulation of apoptotic process, neutrophil activation, intracellular signal transduction, regulation of actin filament polymerization, neutrophil chemotaxis, positive regulation of cell migration, T cell differentiation, actin filament polymerization, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, superoxide metabolic process, 15323 17619 22194 8036 12782 12121 9069 9975 10072 ENSG00000124134 chr20 45092310 45101112 - KCNS1 protein_coding Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008]. 3787 GO:0048471, GO:0016021, GO:0008076, GO:0008076, GO:0005886, GO:0005886, perinuclear region of cytoplasm, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0015459, GO:0005515, GO:0005251, GO:0005251, GO:0005249, potassium channel regulator activity, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:1902259, GO:1902259, GO:0071805, GO:0051260, GO:0006813, regulation of delayed rectifier potassium channel activity, regulation of delayed rectifier potassium channel activity, potassium ion transmembrane transport, protein homooligomerization, potassium ion transport, 37 26 35 41 109 62 33 56 57 ENSG00000124140 chr20 46021690 46060152 + SLC12A5 protein_coding K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]. 57468 GO:0071944, GO:0071944, GO:0045202, GO:0043025, GO:0043025, GO:0043005, GO:0016021, GO:0005887, GO:0005886, cell periphery, cell periphery, synapse, neuronal cell body, neuronal cell body, neuron projection, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0015379, GO:0015379, GO:0015108, potassium:chloride symporter activity, potassium:chloride symporter activity, chloride transmembrane transporter activity, GO:1990573, GO:1902476, GO:0060996, GO:0055075, GO:0055064, GO:0042493, GO:0040040, GO:0035264, GO:0030644, GO:0007612, GO:0007268, GO:0006971, GO:0006884, GO:0006873, GO:0006811, GO:0006811, potassium ion import across plasma membrane, chloride transmembrane transport, dendritic spine development, potassium ion homeostasis, chloride ion homeostasis, response to drug, thermosensory behavior, multicellular organism growth, cellular chloride ion homeostasis, learning, chemical synaptic transmission, hypotonic response, cell volume homeostasis, cellular ion homeostasis, ion transport, ion transport, 0 0 0 0 0 0 4 2 0 ENSG00000124143 chr20 38601934 38651035 + ARHGAP40 protein_coding 343578 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005096, GTPase activator activity, GO:0051056, GO:0051056, GO:0043547, GO:0030833, GO:0007165, regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of actin filament polymerization, signal transduction, 0 0 0 0 0 0 1 3 0 ENSG00000124145 chr20 45325288 45348424 - SDC4 protein_coding The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]. 6385 GO:0070062, GO:0045121, GO:0043202, GO:0043034, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005796, extracellular exosome, membrane raft, lysosomal lumen, costamere, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, Golgi lumen, GO:0070053, GO:0042802, GO:0005515, GO:0005080, GO:0001968, thrombospondin receptor activity, identical protein binding, protein binding, protein kinase C binding, fibronectin binding, GO:1903553, GO:1903543, GO:0060122, GO:0051894, GO:0051496, GO:0050900, GO:0045860, GO:0042130, GO:0042060, GO:0016477, GO:0010762, GO:0006027, GO:0006024, GO:0001843, GO:0001657, GO:0001523, positive regulation of extracellular exosome assembly, positive regulation of exosomal secretion, inner ear receptor cell stereocilium organization, positive regulation of focal adhesion assembly, positive regulation of stress fiber assembly, leukocyte migration, positive regulation of protein kinase activity, negative regulation of T cell proliferation, wound healing, cell migration, regulation of fibroblast migration, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, neural tube closure, ureteric bud development, retinoid metabolic process, 2 1 7 6 6 14 10 4 0 ENSG00000124151 chr20 47501902 47656877 + NCOA3 protein_coding The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]. 8202 GO:0070062, GO:0032991, GO:0032991, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, extracellular exosome, protein-containing complex, protein-containing complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0097718, GO:0047485, GO:0046983, GO:0046966, GO:0035257, GO:0030374, GO:0016922, GO:0016922, GO:0005515, GO:0004402, GO:0003713, GO:0003713, GO:0000993, disordered domain specific binding, protein N-terminus binding, protein dimerization activity, thyroid hormone receptor binding, nuclear hormone receptor binding, nuclear receptor coactivator activity, nuclear receptor binding, nuclear receptor binding, protein binding, histone acetyltransferase activity, transcription coactivator activity, transcription coactivator activity, RNA polymerase II complex binding, GO:2000035, GO:1902459, GO:0071392, GO:0045944, GO:0045944, GO:0045944, GO:0045618, GO:0043697, GO:0035624, GO:0032870, GO:0016573, regulation of stem cell division, positive regulation of stem cell population maintenance, cellular response to estradiol stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of keratinocyte differentiation, cell dedifferentiation, receptor transactivation, cellular response to hormone stimulus, histone acetylation, 1446 1431 1598 969 1383 1488 1137 984 1149 ENSG00000124155 chr20 45416067 45456934 + PIGT protein_coding This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 51604 GO:0042765, GO:0042765, GO:0042765, GO:0031410, GO:0030176, GO:0016020, GO:0005789, GPI-anchor transamidase complex, GPI-anchor transamidase complex, GPI-anchor transamidase complex, cytoplasmic vesicle, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0051402, GO:0030182, GO:0016255, GO:0016255, neuron apoptotic process, neuron differentiation, attachment of GPI anchor to protein, attachment of GPI anchor to protein, 230 289 367 157 158 221 163 205 216 ENSG00000124157 chr20 45221300 45224458 + SEMG2 protein_coding The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. An antibacterial activity has been found for a antimicrobial peptide isolated from this protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq, Jan 2015]. 6407 GO:0070062, GO:0005634, GO:0005615, GO:0005615, extracellular exosome, nucleus, extracellular space, extracellular space, GO:0008270, GO:0005515, GO:0002020, zinc ion binding, protein binding, protease binding, GO:1901318, GO:1900005, GO:0050817, GO:0048240, GO:0019731, negative regulation of flagellated sperm motility, positive regulation of serine-type endopeptidase activity, coagulation, sperm capacitation, antibacterial humoral response, 0 0 0 0 0 0 1 0 0 ENSG00000124159 chr20 45293445 45308529 - MATN4 protein_coding This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 8785 GO:0062023, GO:0005576, collagen-containing extracellular matrix, extracellular region, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0030198, extracellular matrix organization, 1 1 1 3 0 0 4 3 0 ENSG00000124160 chr20 46060985 46089952 - NCOA5 protein_coding This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]. 57727 GO:0015629, GO:0005654, GO:0005615, actin cytoskeleton, nucleoplasm, extracellular space, GO:0005515, GO:0003723, GO:0003714, GO:0003682, protein binding, RNA binding, transcription corepressor activity, chromatin binding, GO:0046627, GO:0042593, GO:0000122, negative regulation of insulin receptor signaling pathway, glucose homeostasis, negative regulation of transcription by RNA polymerase II, 98 75 138 146 107 116 138 48 66 ENSG00000124164 chr20 58389122 58451101 + VAPB protein_coding The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]. 9217 GO:0070971, GO:0016021, GO:0005886, GO:0005794, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0005737, GO:0000139, endoplasmic reticulum exit site, integral component of membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, Golgi membrane, GO:0048487, GO:0046982, GO:0045296, GO:0042803, GO:0033149, GO:0033149, GO:0033149, GO:0019899, GO:0008017, GO:0005515, beta-tubulin binding, protein heterodimerization activity, cadherin binding, protein homodimerization activity, FFAT motif binding, FFAT motif binding, FFAT motif binding, enzyme binding, microtubule binding, protein binding, GO:0090158, GO:0090114, GO:0061817, GO:0045070, GO:0036498, GO:0030968, GO:0030148, GO:0019048, GO:0007029, GO:0006888, GO:0006874, endoplasmic reticulum membrane organization, COPII-coated vesicle budding, endoplasmic reticulum-plasma membrane tethering, positive regulation of viral genome replication, IRE1-mediated unfolded protein response, endoplasmic reticulum unfolded protein response, sphingolipid biosynthetic process, modulation by virus of host process, endoplasmic reticulum organization, endoplasmic reticulum to Golgi vesicle-mediated transport, cellular calcium ion homeostasis, 181 222 262 256 257 239 214 177 208 ENSG00000124171 chr20 50731544 50756795 + PARD6B protein_coding This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008]. 84612 GO:0070062, GO:0032991, GO:0016324, GO:0005938, GO:0005923, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, protein-containing complex, apical plasma membrane, cell cortex, bicellular tight junction, plasma membrane, plasma membrane, cytosol, cytosol, nucleus, GO:0031267, GO:0005515, GO:0005080, small GTPase binding, protein binding, protein kinase C binding, GO:0070830, GO:0065003, GO:0060341, GO:0051301, GO:0030334, GO:0007409, GO:0007163, GO:0007163, GO:0007098, GO:0007043, bicellular tight junction assembly, protein-containing complex assembly, regulation of cellular localization, cell division, regulation of cell migration, axonogenesis, establishment or maintenance of cell polarity, establishment or maintenance of cell polarity, centrosome cycle, cell-cell junction assembly, 17 6 8 6 16 6 8 6 4 ENSG00000124172 chr20 59025467 59032382 - ATP5F1E protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]. 514 GO:0005759, GO:0005753, GO:0005743, GO:0000275, mitochondrial matrix, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1), GO:0046933, GO:0016887, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, ATPase activity, protein binding, GO:0042776, GO:0042776, GO:0042407, GO:0006754, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP biosynthetic process, 1196 920 1222 704 1041 928 703 949 848 ENSG00000124177 chr20 41402101 41618494 - CHD6 protein_coding This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]. 84181 GO:0005654, nucleoplasm, GO:0008094, GO:0005524, GO:0003678, GO:0003677, GO:0001221, DNA-dependent ATPase activity, ATP binding, DNA helicase activity, DNA binding, transcription cofactor binding, GO:0036091, GO:0032508, GO:0016032, GO:0006325, positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress, DNA duplex unwinding, viral process, chromatin organization, 91 156 208 184 96 226 159 79 141 ENSG00000124181 chr20 41136960 41196801 + PLCG1 protein_coding The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5335 GO:0042995, GO:0030027, GO:0008180, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0001726, cell projection, lamellipodium, COP9 signalosome, cell-cell junction, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, ruffle, GO:0050429, GO:0035254, GO:0030971, GO:0019901, GO:0005515, GO:0005509, GO:0005168, GO:0004629, GO:0004435, GO:0004435, calcium-dependent phospholipase C activity, glutamate receptor binding, receptor tyrosine kinase binding, protein kinase binding, protein binding, calcium ion binding, neurotrophin TRKA receptor binding, phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:2000353, GO:1905564, GO:0071364, GO:0071364, GO:0051281, GO:0050900, GO:0050852, GO:0046488, GO:0045766, GO:0043647, GO:0043536, GO:0038096, GO:0038095, GO:0019722, GO:0016477, GO:0016032, GO:0010863, GO:0010634, GO:0010634, GO:0009395, GO:0007411, GO:0007202, GO:0007173, GO:0007173, GO:0007165, GO:0001701, positive regulation of endothelial cell apoptotic process, positive regulation of vascular endothelial cell proliferation, cellular response to epidermal growth factor stimulus, cellular response to epidermal growth factor stimulus, positive regulation of release of sequestered calcium ion into cytosol, leukocyte migration, T cell receptor signaling pathway, phosphatidylinositol metabolic process, positive regulation of angiogenesis, inositol phosphate metabolic process, positive regulation of blood vessel endothelial cell migration, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, calcium-mediated signaling, cell migration, viral process, positive regulation of phospholipase C activity, positive regulation of epithelial cell migration, positive regulation of epithelial cell migration, phospholipid catabolic process, axon guidance, activation of phospholipase C activity, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, in utero embryonic development, 119 105 230 375 81 508 400 95 306 ENSG00000124191 chr20 43914864 44069616 + TOX2 protein_coding 84969 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0031490, GO:0003713, chromatin DNA binding, transcription coactivator activity, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 14 31 31 10 14 14 16 10 7 ENSG00000124193 chr20 43457928 43464247 + SRSF6 protein_coding The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010]. 6431 GO:0016607, GO:0016607, GO:0005654, nuclear speck, nuclear speck, nucleoplasm, GO:0036002, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003723, pre-mRNA binding, protein binding, mRNA binding, RNA binding, RNA binding, RNA binding, GO:2000675, GO:0061041, GO:0060548, GO:0060501, GO:0048025, GO:0045617, GO:0045292, GO:0032868, GO:0031124, GO:0010837, GO:0006406, GO:0006405, GO:0006376, GO:0006376, GO:0000398, GO:0000381, GO:0000381, GO:0000381, GO:0000380, GO:0000380, negative regulation of type B pancreatic cell apoptotic process, regulation of wound healing, negative regulation of cell death, positive regulation of epithelial cell proliferation involved in lung morphogenesis, negative regulation of mRNA splicing, via spliceosome, negative regulation of keratinocyte differentiation, mRNA cis splicing, via spliceosome, response to insulin, mRNA 3'-end processing, regulation of keratinocyte proliferation, mRNA export from nucleus, RNA export from nucleus, mRNA splice site selection, mRNA splice site selection, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 797 1027 1099 2564 2518 2784 2264 1591 1843 ENSG00000124194 chr20 44247099 44280917 + GDAP1L1 protein_coding The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]. 78997 0 0 0 0 0 0 0 0 0 ENSG00000124196 chr20 43726164 43726998 - GTSF1L protein_coding 149699 GO:0046872, GO:0005515, metal ion binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000124198 chr20 48921890 49036693 + ARFGEF2 protein_coding ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]. 10564 GO:0055037, GO:0048471, GO:0043197, GO:0032280, GO:0032279, GO:0031410, GO:0016020, GO:0016020, GO:0005879, GO:0005829, GO:0005815, GO:0005802, GO:0000139, recycling endosome, perinuclear region of cytoplasm, dendritic spine, symmetric synapse, asymmetric synapse, cytoplasmic vesicle, membrane, membrane, axonemal microtubule, cytosol, microtubule organizing center, trans-Golgi network, Golgi membrane, GO:0050811, GO:0034237, GO:0017022, GO:0005515, GO:0005085, GABA receptor binding, protein kinase A regulatory subunit binding, myosin binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0035556, GO:0032760, GO:0032012, GO:0015031, GO:0010256, GO:0007032, GO:0006893, GO:0006887, GO:0001881, intracellular signal transduction, positive regulation of tumor necrosis factor production, regulation of ARF protein signal transduction, protein transport, endomembrane system organization, endosome organization, Golgi to plasma membrane transport, exocytosis, receptor recycling, 142 141 213 173 158 188 197 88 133 ENSG00000124201 chr20 49237946 49278426 - ZNFX1 protein_coding 57169 GO:0031380, nuclear RNA-directed RNA polymerase complex, GO:0008270, GO:0004386, GO:0003723, GO:0003723, GO:0003700, zinc ion binding, helicase activity, RNA binding, RNA binding, DNA-binding transcription factor activity, GO:0031048, heterochromatin assembly by small RNA, 4759 4872 6780 3288 4353 4102 3693 2856 3363 ENSG00000124203 chr20 59123381 59259113 + ZNF831 protein_coding 128611 GO:0046872, metal ion binding, 96 109 186 151 38 207 154 59 158 ENSG00000124205 chr20 59300427 59325992 + EDN3 protein_coding The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. 1908 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0031708, GO:0031708, GO:0005179, GO:0005179, GO:0005102, endothelin B receptor binding, endothelin B receptor binding, hormone activity, hormone activity, signaling receptor binding, GO:1901381, GO:0060585, GO:0048070, GO:0048016, GO:0046887, GO:0045840, GO:0045597, GO:0043406, GO:0042310, GO:0030593, GO:0030318, GO:0030182, GO:0030072, GO:0019229, GO:0014826, GO:0014826, GO:0014824, GO:0010961, GO:0010468, GO:0010460, GO:0008284, GO:0008015, GO:0007275, GO:0007267, GO:0007186, GO:0007166, GO:0007165, GO:0006874, GO:0003100, GO:0003100, GO:0002690, GO:0001755, positive regulation of potassium ion transmembrane transport, positive regulation of prostaglandin-endoperoxide synthase activity, regulation of developmental pigmentation, inositol phosphate-mediated signaling, positive regulation of hormone secretion, positive regulation of mitotic nuclear division, positive regulation of cell differentiation, positive regulation of MAP kinase activity, vasoconstriction, neutrophil chemotaxis, melanocyte differentiation, neuron differentiation, peptide hormone secretion, regulation of vasoconstriction, vein smooth muscle contraction, vein smooth muscle contraction, artery smooth muscle contraction, cellular magnesium ion homeostasis, regulation of gene expression, positive regulation of heart rate, positive regulation of cell population proliferation, blood circulation, multicellular organism development, cell-cell signaling, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, cellular calcium ion homeostasis, regulation of systemic arterial blood pressure by endothelin, regulation of systemic arterial blood pressure by endothelin, positive regulation of leukocyte chemotaxis, neural crest cell migration, 0 1 0 0 0 0 0 0 1 ENSG00000124207 chr20 49046246 49096960 + CSE1L protein_coding Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]. 1434 GO:0070062, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005635, GO:0005634, extracellular exosome, membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nuclear envelope, nucleus, GO:0031267, GO:0005515, GO:0005049, small GTPase binding, protein binding, nuclear export signal receptor activity, GO:0006611, GO:0006606, protein export from nucleus, protein import into nucleus, 98 105 161 105 100 135 130 82 96 ENSG00000124208 chr20 50081124 50153637 - TMEM189-UBE2V1 protein_coding The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010]. 387522 0 0 0 0 0 0 0 0 0 ENSG00000124209 chr20 58309696 58367507 + RAB22A protein_coding The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008]. 57403 GO:0070062, GO:0045335, GO:0030670, GO:0015629, GO:0012505, GO:0010008, GO:0005886, GO:0005770, GO:0005769, GO:0005769, GO:0001726, extracellular exosome, phagocytic vesicle, phagocytic vesicle membrane, actin cytoskeleton, endomembrane system, endosome membrane, plasma membrane, late endosome, early endosome, early endosome, ruffle, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:0097494, GO:0007032, GO:0006897, GO:0006897, GO:0006886, regulation of vesicle size, endosome organization, endocytosis, endocytosis, intracellular protein transport, 857 690 965 362 472 409 413 355 322 ENSG00000124212 chr20 49503874 49568146 - PTGIS protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]. 5740 GO:0016021, GO:0005901, GO:0005789, GO:0005789, GO:0005783, GO:0005634, GO:0005615, integral component of membrane, caveola, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, extracellular space, GO:0106256, GO:0020037, GO:0016705, GO:0008116, GO:0008116, GO:0005515, GO:0005506, GO:0004497, hydroperoxy icosatetraenoate dehydratase activity, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, prostaglandin-I synthase activity, prostaglandin-I synthase activity, protein binding, iron ion binding, monooxygenase activity, GO:1900119, GO:0097190, GO:0071456, GO:0071354, GO:0071347, GO:0055114, GO:0050728, GO:0046697, GO:0045766, GO:0045019, GO:0035360, GO:0034356, GO:0032088, GO:0019371, GO:0007566, GO:0006690, GO:0006690, GO:0001516, GO:0001516, positive regulation of execution phase of apoptosis, apoptotic signaling pathway, cellular response to hypoxia, cellular response to interleukin-6, cellular response to interleukin-1, oxidation-reduction process, negative regulation of inflammatory response, decidualization, positive regulation of angiogenesis, negative regulation of nitric oxide biosynthetic process, positive regulation of peroxisome proliferator activated receptor signaling pathway, NAD biosynthesis via nicotinamide riboside salvage pathway, negative regulation of NF-kappaB transcription factor activity, cyclooxygenase pathway, embryo implantation, icosanoid metabolic process, icosanoid metabolic process, prostaglandin biosynthetic process, prostaglandin biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000124214 chr20 49113339 49188367 - STAU1 protein_coding Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. [provided by RefSeq, Apr 2020]. 6780 GO:0098978, GO:0070062, GO:0044297, GO:0043025, GO:0036464, GO:0030425, GO:0016020, GO:0010494, GO:0005886, GO:0005875, GO:0005829, GO:0005791, GO:0005783, GO:0005737, glutamatergic synapse, extracellular exosome, cell body, neuronal cell body, cytoplasmic ribonucleoprotein granule, dendrite, membrane, cytoplasmic stress granule, plasma membrane, microtubule associated complex, cytosol, rough endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0008157, GO:0005515, GO:0003725, GO:0003723, protein phosphatase 1 binding, protein binding, double-stranded RNA binding, RNA binding, GO:1900273, GO:0099010, GO:0046726, GO:0045070, GO:0034599, GO:0016032, positive regulation of long-term synaptic potentiation, modification of postsynaptic structure, positive regulation by virus of viral protein levels in host cell, positive regulation of viral genome replication, cellular response to oxidative stress, viral process, 1336 1180 1978 545 714 775 640 573 662 ENSG00000124215 chr20 59958427 60034011 + CDH26 protein_coding This gene encodes a member of the cadherin protein family. Cadherins are a family of calcium-dependent adhesion molecules that mediate cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization, migration and differentiation. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This protein is expressed in gastrointestinal epithelial cells and may be upregulated during allergic inflammation. This protein interacts with alpha integrins and may also be involved in leukocyte migration and adhesion. [provided by RefSeq, Jan 2017]. 60437 GO:0016342, GO:0016021, GO:0015630, GO:0005886, catenin complex, integral component of membrane, microtubule cytoskeleton, plasma membrane, GO:0070097, GO:0045296, GO:0045294, GO:0008013, GO:0005515, GO:0005509, GO:0005178, delta-catenin binding, cadherin binding, alpha-catenin binding, beta-catenin binding, protein binding, calcium ion binding, integrin binding, GO:0098742, GO:0035710, GO:0007156, cell-cell adhesion via plasma-membrane adhesion molecules, CD4-positive, alpha-beta T cell activation, homophilic cell adhesion via plasma membrane adhesion molecules, 40 55 60 45 90 102 50 63 76 ENSG00000124216 chr20 49982999 49988886 + SNAI1 protein_coding The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008]. 6615 GO:0005829, GO:0005737, GO:0005737, GO:0005721, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, cytoplasm, cytoplasm, pericentric heterochromatin, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0070888, GO:0046872, GO:0019900, GO:0005515, GO:0003700, GO:0001227, GO:0001227, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, metal ion binding, kinase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000810, GO:1902230, GO:0070828, GO:0061314, GO:0061314, GO:0060972, GO:0060806, GO:0060707, GO:0060536, GO:0060021, GO:0045893, GO:0043518, GO:0031069, GO:0030335, GO:0016477, GO:0010957, GO:0010718, GO:0010718, GO:0010718, GO:0006357, GO:0003198, GO:0003198, GO:0003180, GO:0001837, GO:0001837, GO:0001707, GO:0001649, GO:0000122, GO:0000122, GO:0000122, regulation of bicellular tight junction assembly, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, heterochromatin organization, Notch signaling involved in heart development, Notch signaling involved in heart development, left/right pattern formation, negative regulation of cell differentiation involved in embryonic placenta development, trophoblast giant cell differentiation, cartilage morphogenesis, roof of mouth development, positive regulation of transcription, DNA-templated, negative regulation of DNA damage response, signal transduction by p53 class mediator, hair follicle morphogenesis, positive regulation of cell migration, cell migration, negative regulation of vitamin D biosynthetic process, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial to mesenchymal transition, regulation of transcription by RNA polymerase II, epithelial to mesenchymal transition involved in endocardial cushion formation, epithelial to mesenchymal transition involved in endocardial cushion formation, aortic valve morphogenesis, epithelial to mesenchymal transition, epithelial to mesenchymal transition, mesoderm formation, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 46 81 13 86 161 25 68 114 28 ENSG00000124217 chr20 50958826 50963931 + MOCS3 protein_coding Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]. 27304 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0061605, GO:0061604, GO:0046872, GO:0042292, GO:0042292, GO:0016783, GO:0016779, GO:0016779, GO:0005524, GO:0005515, GO:0004792, GO:0004792, molybdopterin-synthase adenylyltransferase activity, molybdopterin-synthase sulfurtransferase activity, metal ion binding, URM1 activating enzyme activity, URM1 activating enzyme activity, sulfurtransferase activity, nucleotidyltransferase activity, nucleotidyltransferase activity, ATP binding, protein binding, thiosulfate sulfurtransferase activity, thiosulfate sulfurtransferase activity, GO:0034227, GO:0032447, GO:0032324, GO:0018192, GO:0006777, GO:0002143, GO:0002098, tRNA thio-modification, protein urmylation, molybdopterin cofactor biosynthetic process, enzyme active site formation via cysteine modification to L-cysteine persulfide, Mo-molybdopterin cofactor biosynthetic process, tRNA wobble position uridine thiolation, tRNA wobble uridine modification, 22 9 18 8 8 9 8 5 10 ENSG00000124222 chr20 58651253 58679526 + STX16 protein_coding This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]. 8675 GO:0048471, GO:0043231, GO:0032588, GO:0031985, GO:0031201, GO:0031201, GO:0031201, GO:0016021, GO:0012505, GO:0005925, GO:0005829, GO:0005802, GO:0005794, GO:0005737, GO:0000139, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, trans-Golgi network membrane, Golgi cisterna, SNARE complex, SNARE complex, SNARE complex, integral component of membrane, endomembrane system, focal adhesion, cytosol, trans-Golgi network, Golgi apparatus, cytoplasm, Golgi membrane, GO:0019905, GO:0005515, GO:0005484, GO:0005484, GO:0000149, syntaxin binding, protein binding, SNAP receptor activity, SNAP receptor activity, SNARE binding, GO:0090161, GO:0048278, GO:0042147, GO:0042147, GO:0006906, GO:0006886, Golgi ribbon formation, vesicle docking, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, vesicle fusion, intracellular protein transport, 1679 1693 1951 1427 2066 1981 1758 1598 1849 ENSG00000124224 chr20 58228940 58309439 - PPP4R1L transcribed_unprocessed_pseudogene 344 315 845 383 591 842 368 388 679 ENSG00000124225 chr20 57648392 57711536 - PMEPA1 protein_coding This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression of this gene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 56937 GO:0043231, GO:0031901, GO:0031901, GO:0031901, GO:0016021, GO:0010008, GO:0005886, GO:0000139, GO:0000139, intracellular membrane-bounded organelle, early endosome membrane, early endosome membrane, early endosome membrane, integral component of membrane, endosome membrane, plasma membrane, Golgi membrane, Golgi membrane, GO:0070412, GO:0070412, GO:0050699, GO:0005515, R-SMAD binding, R-SMAD binding, WW domain binding, protein binding, GO:0060394, GO:0060394, GO:0060394, GO:0030521, GO:0030512, GO:0030512, GO:0030512, GO:0030512, GO:0010991, GO:0010991, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of pathway-restricted SMAD protein phosphorylation, androgen receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of SMAD protein complex assembly, negative regulation of SMAD protein complex assembly, 25 10 44 27 2 51 40 2 15 ENSG00000124226 chr20 49936336 49953892 + RNF114 protein_coding 55905 GO:0005886, GO:0005829, GO:0005829, GO:0005634, plasma membrane, cytosol, cytosol, nucleus, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0030154, GO:0007283, GO:0007275, GO:0006511, GO:0000209, GO:0000209, cell differentiation, spermatogenesis, multicellular organism development, ubiquitin-dependent protein catabolic process, protein polyubiquitination, protein polyubiquitination, 615 688 784 646 877 779 616 700 581 ENSG00000124227 chr20 58218495 58228653 - ANKRD60 protein_coding 140731 0 0 0 0 0 0 0 0 0 ENSG00000124228 chr20 49219295 49244077 + DDX27 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]. 55661 GO:0005730, GO:0005730, GO:0005694, nucleolus, nucleolus, chromosome, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, GO:0006364, rRNA processing, 668 918 1122 779 762 860 813 522 685 ENSG00000124232 chr20 45306851 45317824 + RBPJL protein_coding This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 11317 GO:0000785, GO:0000785, chromatin, chromatin, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0007165, positive regulation of transcription by RNA polymerase II, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000124233 chr20 45206997 45209772 + SEMG1 protein_coding The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20. [provided by RefSeq, Feb 2016]. 6406 GO:0070062, GO:0032991, GO:0005634, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, protein-containing complex, nucleus, extracellular space, extracellular space, extracellular region, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:1901318, GO:1901318, GO:1900005, GO:0090281, GO:0061844, GO:0050817, GO:0048240, GO:0044267, GO:0031640, GO:0019731, GO:0019730, GO:0007320, negative regulation of flagellated sperm motility, negative regulation of flagellated sperm motility, positive regulation of serine-type endopeptidase activity, negative regulation of calcium ion import, antimicrobial humoral immune response mediated by antimicrobial peptide, coagulation, sperm capacitation, cellular protein metabolic process, killing of cells of other organism, antibacterial humoral response, antimicrobial humoral response, insemination, 24 13 16 8 26 9 9 21 28 ENSG00000124237 chr20 58150904 58161150 + C20orf85 protein_coding 128602 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000124243 chr20 50794894 50882676 + BCAS4 protein_coding 55653 GO:0031083, BLOC-1 complex, 27 25 22 40 32 60 48 39 48 ENSG00000124249 chr20 44745780 44752313 + KCNK15 protein_coding This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]. 60598 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0022841, GO:0005244, potassium ion leak channel activity, voltage-gated ion channel activity, GO:0071805, GO:0061337, GO:0034765, GO:0030322, potassium ion transmembrane transport, cardiac conduction, regulation of ion transmembrane transport, stabilization of membrane potential, 0 0 0 0 0 0 0 0 0 ENSG00000124251 chr20 45372563 45407889 - TP53TG5 protein_coding 27296 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0035556, GO:0030308, intracellular signal transduction, negative regulation of cell growth, 19 41 59 43 43 60 35 46 40 ENSG00000124253 chr20 57561080 57568112 + PCK1 protein_coding This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]. 5105 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005739, GO:0005737, extracellular exosome, cytosol, cytosol, cytosol, endoplasmic reticulum, mitochondrion, cytoplasm, GO:0106264, GO:0031406, GO:0030145, GO:0030145, GO:0019003, GO:0005525, GO:0004613, GO:0004613, GO:0004613, GO:0004613, GO:0004613, GO:0000287, protein serine kinase activity (using GTP as donor), carboxylic acid binding, manganese ion binding, manganese ion binding, GDP binding, GTP binding, phosphoenolpyruvate carboxykinase (GTP) activity, phosphoenolpyruvate carboxykinase (GTP) activity, phosphoenolpyruvate carboxykinase (GTP) activity, phosphoenolpyruvate carboxykinase (GTP) activity, phosphoenolpyruvate carboxykinase (GTP) activity, magnesium ion binding, GO:1904640, GO:0071549, GO:0071456, GO:0071377, GO:0071356, GO:0071347, GO:0071333, GO:0071333, GO:0071332, GO:0071320, GO:0071300, GO:0070741, GO:0070365, GO:0046890, GO:0046327, GO:0046327, GO:0043382, GO:0042594, GO:0042593, GO:0033993, GO:0032869, GO:0032869, GO:0032868, GO:0032496, GO:0019543, GO:0018105, GO:0014823, GO:0007568, GO:0006107, GO:0006094, GO:0006094, GO:0006094, GO:0006094, GO:0006094, GO:0006006, response to methionine, cellular response to dexamethasone stimulus, cellular response to hypoxia, cellular response to glucagon stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to glucose stimulus, cellular response to glucose stimulus, cellular response to fructose stimulus, cellular response to cAMP, cellular response to retinoic acid, response to interleukin-6, hepatocyte differentiation, regulation of lipid biosynthetic process, glycerol biosynthetic process from pyruvate, glycerol biosynthetic process from pyruvate, positive regulation of memory T cell differentiation, response to starvation, glucose homeostasis, response to lipid, cellular response to insulin stimulus, cellular response to insulin stimulus, response to insulin, response to lipopolysaccharide, propionate catabolic process, peptidyl-serine phosphorylation, response to activity, aging, oxaloacetate metabolic process, gluconeogenesis, gluconeogenesis, gluconeogenesis, gluconeogenesis, gluconeogenesis, glucose metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000124256 chr20 57603846 57620576 - ZBP1 protein_coding This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 81030 GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003725, GO:0003692, GO:0003677, GO:0003677, protein binding, double-stranded RNA binding, left-handed Z-DNA binding, DNA binding, DNA binding, GO:2000659, GO:0070269, GO:0060545, GO:0060340, GO:0051607, GO:0050729, GO:0050727, GO:0045087, GO:0043065, GO:0032481, GO:0032479, GO:0016032, GO:0006915, GO:0002218, regulation of interleukin-1-mediated signaling pathway, pyroptosis, positive regulation of necroptotic process, positive regulation of type I interferon-mediated signaling pathway, defense response to virus, positive regulation of inflammatory response, regulation of inflammatory response, innate immune response, positive regulation of apoptotic process, positive regulation of type I interferon production, regulation of type I interferon production, viral process, apoptotic process, activation of innate immune response, 788 730 739 516 597 582 562 445 526 ENSG00000124257 chr20 45888625 45891287 - NEURL2 protein_coding This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 140825 GO:0005829, cytosol, GO:0061630, ubiquitin protein ligase activity, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 3 6 4 6 25 23 10 15 5 ENSG00000124260 chrX 152133310 152138578 - MAGEA10 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011]. 4109 GO:0005829, GO:0005654, cytosol, nucleoplasm, 0 0 0 1 0 0 0 0 0 ENSG00000124275 chr5 7851186 7906025 + MTRR protein_coding This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 4552 GO:0005829, GO:0005829, cytosol, cytosol, GO:0071949, GO:0070402, GO:0050661, GO:0050660, GO:0050660, GO:0050660, GO:0050444, GO:0030586, GO:0030586, GO:0030586, GO:0016723, GO:0016709, GO:0016491, GO:0010181, GO:0010181, GO:0010181, GO:0005515, GO:0003958, GO:0003958, FAD binding, NADPH binding, NADP binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, aquacobalamin reductase (NADPH) activity, [methionine synthase] reductase activity, [methionine synthase] reductase activity, [methionine synthase] reductase activity, oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, FMN binding, FMN binding, FMN binding, protein binding, NADPH-hemoprotein reductase activity, NADPH-hemoprotein reductase activity, GO:1904042, GO:0055114, GO:0050667, GO:0046655, GO:0046655, GO:0043418, GO:0033353, GO:0032259, GO:0009235, GO:0009086, GO:0009086, GO:0006555, GO:0006306, GO:0000096, negative regulation of cystathionine beta-synthase activity, oxidation-reduction process, homocysteine metabolic process, folic acid metabolic process, folic acid metabolic process, homocysteine catabolic process, S-adenosylmethionine cycle, methylation, cobalamin metabolic process, methionine biosynthetic process, methionine biosynthetic process, methionine metabolic process, DNA methylation, sulfur amino acid metabolic process, 42 47 103 85 32 105 72 38 89 ENSG00000124279 chr5 7859159 7869037 - FASTKD3 protein_coding This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 79072 GO:0005739, GO:0005654, mitochondrion, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0070131, GO:0044528, GO:0033617, positive regulation of mitochondrial translation, regulation of mitochondrial mRNA stability, mitochondrial cytochrome c oxidase assembly, 11 7 14 7 12 13 15 5 22 ENSG00000124299 chr19 33386950 33521794 - PEPD protein_coding This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 5184 GO:0070062, extracellular exosome, GO:0102009, GO:0070006, GO:0030145, GO:0008233, GO:0005515, GO:0004181, proline dipeptidase activity, metalloaminopeptidase activity, manganese ion binding, peptidase activity, protein binding, metallocarboxypeptidase activity, GO:0030574, GO:0006520, GO:0006508, collagen catabolic process, cellular amino acid metabolic process, proteolysis, 5 10 25 63 21 33 59 18 36 ENSG00000124302 chr19 33621955 33773509 + CHST8 protein_coding The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]. 64377 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008146, GO:0005515, GO:0001537, GO:0001537, sulfotransferase activity, protein binding, N-acetylgalactosamine 4-O-sulfotransferase activity, N-acetylgalactosamine 4-O-sulfotransferase activity, GO:0042446, GO:0030166, GO:0030166, GO:0016051, GO:0007417, GO:0006790, hormone biosynthetic process, proteoglycan biosynthetic process, proteoglycan biosynthetic process, carbohydrate biosynthetic process, central nervous system development, sulfur compound metabolic process, 0 1 0 0 0 0 0 0 0 ENSG00000124313 chrX 53225828 53321350 - IQSEC2 protein_coding This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. 23096 GO:0098685, GO:0098685, GO:0005737, Schaffer collateral - CA1 synapse, Schaffer collateral - CA1 synapse, cytoplasm, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0098696, GO:0098696, GO:0050804, GO:0050804, GO:0032012, GO:0030036, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, modulation of chemical synaptic transmission, modulation of chemical synaptic transmission, regulation of ARF protein signal transduction, actin cytoskeleton organization, 12 30 48 4 10 5 7 8 7 ENSG00000124333 chrX 155881293 155943769 + VAMP7 protein_coding This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]. 6845 GO:0098686, GO:0070062, GO:0048471, GO:0045335, GO:0045177, GO:0043231, GO:0043005, GO:0035577, GO:0031902, GO:0031201, GO:0031201, GO:0031201, GO:0031143, GO:0031091, GO:0030670, GO:0030667, GO:0030665, GO:0030285, GO:0030175, GO:0030141, GO:0030027, GO:0016020, GO:0009986, GO:0005886, GO:0005886, GO:0005802, GO:0005789, GO:0005765, GO:0005765, GO:0005765, GO:0005737, hippocampal mossy fiber to CA3 synapse, extracellular exosome, perinuclear region of cytoplasm, phagocytic vesicle, apical part of cell, intracellular membrane-bounded organelle, neuron projection, azurophil granule membrane, late endosome membrane, SNARE complex, SNARE complex, SNARE complex, pseudopodium, platelet alpha granule, phagocytic vesicle membrane, secretory granule membrane, clathrin-coated vesicle membrane, integral component of synaptic vesicle membrane, filopodium, secretory granule, lamellipodium, membrane, cell surface, plasma membrane, plasma membrane, trans-Golgi network, endoplasmic reticulum membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, cytoplasm, GO:0019905, GO:0005515, GO:0005484, GO:0000149, syntaxin binding, protein binding, SNAP receptor activity, SNARE binding, GO:1903595, GO:1900483, GO:0097352, GO:0061024, GO:0050775, GO:0048280, GO:0047496, GO:0043320, GO:0043312, GO:0043312, GO:0043308, GO:0043308, GO:0043001, GO:0035493, GO:0034197, GO:0017156, GO:0016192, GO:0008333, GO:0008333, GO:0006911, GO:0006906, GO:0006906, GO:0006892, GO:0006888, GO:0006887, positive regulation of histamine secretion by mast cell, regulation of protein targeting to vacuolar membrane, autophagosome maturation, membrane organization, positive regulation of dendrite morphogenesis, vesicle fusion with Golgi apparatus, vesicle transport along microtubule, natural killer cell degranulation, neutrophil degranulation, neutrophil degranulation, eosinophil degranulation, eosinophil degranulation, Golgi to plasma membrane protein transport, SNARE complex assembly, triglyceride transport, calcium-ion regulated exocytosis, vesicle-mediated transport, endosome to lysosome transport, endosome to lysosome transport, phagocytosis, engulfment, vesicle fusion, vesicle fusion, post-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, exocytosis, 72 53 10 18 27 29 3 4 42 ENSG00000124334 chrX 155997581 156010817 + IL9R protein_coding The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 3581 GO:0005887, GO:0005886, GO:0005615, integral component of plasma membrane, plasma membrane, extracellular space, GO:0004919, interleukin-9 receptor activity, GO:0042127, GO:0038113, GO:0007165, regulation of cell population proliferation, interleukin-9-mediated signaling pathway, signal transduction, 0 1 0 0 0 0 0 0 0 ENSG00000124343 chrX 2752048 2816500 + XG protein_coding This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. 7499 GO:0005887, GO:0005887, integral component of plasma membrane, integral component of plasma membrane, GO:0003674, molecular_function, GO:2000391, GO:0072683, GO:0034109, GO:0008150, positive regulation of neutrophil extravasation, T cell extravasation, homotypic cell-cell adhesion, biological_process, 0 0 0 3 0 0 0 0 0 ENSG00000124356 chr2 73828916 73873659 + STAMBP protein_coding Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]. 10617 GO:0070062, GO:0032154, GO:0032154, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005769, GO:0005768, GO:0005654, GO:0005634, extracellular exosome, cleavage furrow, cleavage furrow, membrane, plasma membrane, cytosol, cytosol, early endosome, endosome, nucleoplasm, nucleus, GO:0070122, GO:0061578, GO:0046872, GO:0019904, GO:0008237, GO:0005515, GO:0004843, GO:0004843, isopeptidase activity, Lys63-specific deubiquitinase activity, metal ion binding, protein domain specific binding, metallopeptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0070536, GO:0046580, GO:0043524, GO:0016579, GO:0016579, GO:0014067, GO:0008284, GO:0007259, GO:0000281, protein K63-linked deubiquitination, negative regulation of Ras protein signal transduction, negative regulation of neuron apoptotic process, protein deubiquitination, protein deubiquitination, negative regulation of phosphatidylinositol 3-kinase signaling, positive regulation of cell population proliferation, receptor signaling pathway via JAK-STAT, mitotic cytokinesis, 292 285 367 243 389 308 207 289 243 ENSG00000124357 chr2 71064344 71079805 + NAGK protein_coding This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]. 55577 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0045127, GO:0045127, GO:0005524, GO:0005515, N-acetylglucosamine kinase activity, N-acetylglucosamine kinase activity, ATP binding, protein binding, GO:0046835, GO:0019262, GO:0019262, GO:0006051, GO:0006048, GO:0006044, carbohydrate phosphorylation, N-acetylneuraminate catabolic process, N-acetylneuraminate catabolic process, N-acetylmannosamine metabolic process, UDP-N-acetylglucosamine biosynthetic process, N-acetylglucosamine metabolic process, 2137 2846 3288 2096 3062 2824 2613 2602 2245 ENSG00000124370 chr2 71109684 71130239 - MCEE protein_coding The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]. 84693 GO:0005759, mitochondrial matrix, GO:0046872, GO:0005515, GO:0004493, GO:0004493, GO:0004493, metal ion binding, protein binding, methylmalonyl-CoA epimerase activity, methylmalonyl-CoA epimerase activity, methylmalonyl-CoA epimerase activity, GO:0046491, GO:0046491, GO:0019626, L-methylmalonyl-CoA metabolic process, L-methylmalonyl-CoA metabolic process, short-chain fatty acid catabolic process, 13 7 6 6 10 16 10 9 3 ENSG00000124374 chr2 71182739 71227083 - PAIP2B protein_coding Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]. 400961 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0030371, GO:0005515, GO:0000900, translation repressor activity, protein binding, translation repressor activity, mRNA regulatory element binding, GO:0045947, GO:0017148, negative regulation of translational initiation, negative regulation of translation, 3 4 3 18 7 13 8 9 9 ENSG00000124380 chr2 69893560 69905575 + SNRNP27 protein_coding This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]. 11017 GO:0005654, GO:0005575, nucleoplasm, cellular_component, GO:0005515, GO:0003676, protein binding, nucleic acid binding, GO:0008150, GO:0000398, biological_process, mRNA splicing, via spliceosome, 72 91 93 74 65 83 46 47 72 ENSG00000124383 chr2 71130314 71150101 + MPHOSPH10 protein_coding This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]. 10199 GO:0034457, GO:0032040, GO:0005732, GO:0005730, GO:0005694, GO:0005654, Mpp10 complex, small-subunit processome, small nucleolar ribonucleoprotein complex, nucleolus, chromosome, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0010923, GO:0008380, GO:0006396, GO:0006364, GO:0000375, negative regulation of phosphatase activity, RNA splicing, RNA processing, rRNA processing, RNA splicing, via transesterification reactions, 63 46 72 58 37 76 65 28 42 ENSG00000124391 chr16 88638591 88640473 + IL17C protein_coding The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]. 27189 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005125, cytokine activity, GO:0097400, GO:0007267, GO:0007166, GO:0006954, interleukin-17-mediated signaling pathway, cell-cell signaling, cell surface receptor signaling pathway, inflammatory response, 0 0 1 1 4 3 0 1 3 ENSG00000124399 chr4 43898962 43899351 + NDUFB4P12 processed_pseudogene 0 0 1 0 0 3 0 0 0 ENSG00000124406 chr4 42408373 42657105 - ATP8A1 protein_coding The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10396 GO:1990531, GO:0070062, GO:0043231, GO:0042584, GO:0035579, GO:0035577, GO:0031410, GO:0031090, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, GO:0005802, GO:0005794, GO:0005783, phospholipid-translocating ATPase complex, extracellular exosome, intracellular membrane-bounded organelle, chromaffin granule membrane, specific granule membrane, azurophil granule membrane, cytoplasmic vesicle, organelle membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum, GO:0140346, GO:0140327, GO:0140326, GO:0022857, GO:0019829, GO:0016887, GO:0005524, GO:0005515, GO:0000287, phosphatidylserine flippase activity, flippase activity, ATPase-coupled intramembrane lipid transporter activity, transmembrane transporter activity, ATPase-coupled cation transmembrane transporter activity, ATPase activity, ATP binding, protein binding, magnesium ion binding, GO:0150104, GO:0140331, GO:0098655, GO:0061092, GO:0055085, GO:0045332, GO:0045332, GO:0043312, GO:0034220, GO:0030335, GO:0007612, GO:0006869, transport across blood-brain barrier, aminophospholipid translocation, cation transmembrane transport, positive regulation of phospholipid translocation, transmembrane transport, phospholipid translocation, phospholipid translocation, neutrophil degranulation, ion transmembrane transport, positive regulation of cell migration, learning, lipid transport, 510 422 534 587 534 647 666 393 519 ENSG00000124422 chr17 20999593 21043760 - USP22 protein_coding 23326 GO:0070461, GO:0005654, GO:0000124, SAGA-type complex, nucleoplasm, SAGA complex, GO:0030374, GO:0019899, GO:0010485, GO:0008270, GO:0008234, GO:0005515, GO:0004843, GO:0004843, GO:0003713, nuclear receptor coactivator activity, enzyme binding, H4 histone acetyltransferase activity, zinc ion binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, transcription coactivator activity, GO:0045931, GO:0045893, GO:0043967, GO:0016579, GO:0016579, GO:0016578, GO:0016574, GO:0009792, GO:0007049, GO:0006511, positive regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, histone H4 acetylation, protein deubiquitination, protein deubiquitination, histone deubiquitination, histone ubiquitination, embryo development ending in birth or egg hatching, cell cycle, ubiquitin-dependent protein catabolic process, 1813 1716 2040 771 1169 1075 861 875 949 ENSG00000124429 chrX 85277396 85379743 - POF1B protein_coding Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called 'POF1' and 'POF2' have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]. 79983 GO:0030057, GO:0005923, GO:0005912, GO:0005884, desmosome, bicellular tight junction, adherens junction, actin filament, GO:0051015, actin filament binding, GO:0070830, GO:0030036, GO:0007015, GO:0003382, bicellular tight junction assembly, actin cytoskeleton organization, actin filament organization, epithelial cell morphogenesis, 1 0 0 0 0 0 0 0 0 ENSG00000124440 chr19 46297046 46343433 + HIF3A protein_coding The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]. 64344 GO:0016607, GO:0005886, GO:0005829, GO:0005829, GO:0005739, GO:0005654, GO:0005654, GO:0000785, GO:0000785, GO:0000785, nuclear speck, plasma membrane, cytosol, cytosol, mitochondrion, nucleoplasm, nucleoplasm, chromatin, chromatin, chromatin, GO:0046983, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein dimerization activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0061418, GO:0043687, GO:0016567, GO:0006915, GO:0006366, GO:0006357, GO:0001525, regulation of transcription from RNA polymerase II promoter in response to hypoxia, post-translational protein modification, protein ubiquitination, apoptotic process, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000124444 chr19 43596392 43601157 + ZNF576 protein_coding 79177 GO:0005634, nucleus, GO:0046872, GO:0043565, GO:0005515, GO:0000981, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 15 23 22 16 57 18 12 50 14 ENSG00000124449 chr19 43716010 43720021 + IRGC protein_coding 56269 GO:0005789, endoplasmic reticulum membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0035458, GO:0006952, cellular response to interferon-beta, defense response, 1 1 0 0 2 0 0 0 0 ENSG00000124459 chr19 43912629 43935278 - ZNF45 protein_coding 7596 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007275, GO:0006367, GO:0006357, multicellular organism development, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 30 57 27 57 41 42 42 47 35 ENSG00000124466 chr19 43460787 43465660 - LYPD3 protein_coding 27076 GO:0046658, GO:0016021, GO:0005886, GO:0005886, GO:0005615, GO:0005576, anchored component of plasma membrane, integral component of membrane, plasma membrane, plasma membrane, extracellular space, extracellular region, GO:0043236, laminin binding, GO:0007160, cell-matrix adhesion, 10 2 14 14 0 34 28 8 21 ENSG00000124467 chr19 42752686 42855691 - PSG8 protein_coding The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]. 440533 GO:0005576, extracellular region, 0 0 0 0 1 0 0 0 0 ENSG00000124469 chr19 42580241 42595055 - CEACAM8 protein_coding 1088 GO:0070821, GO:0070062, GO:0035579, GO:0035577, GO:0031225, GO:0009986, GO:0005886, GO:0005615, tertiary granule membrane, extracellular exosome, specific granule membrane, azurophil granule membrane, anchored component of membrane, cell surface, plasma membrane, extracellular space, GO:0046982, GO:0005515, protein heterodimerization activity, protein binding, GO:0050900, GO:0043312, GO:0007157, GO:0006955, leukocyte migration, neutrophil degranulation, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, immune response, 3 14 18 0 12 21 5 11 12 ENSG00000124479 chrX 43948776 43973504 - NDP protein_coding This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]. 4693 GO:0062023, GO:0031012, GO:0009986, GO:0005615, collagen-containing extracellular matrix, extracellular matrix, cell surface, extracellular space, GO:0042803, GO:0005515, GO:0005125, GO:0005125, GO:0005109, protein homodimerization activity, protein binding, cytokine activity, cytokine activity, frizzled binding, GO:0110135, GO:0061299, GO:0051091, GO:0045893, GO:0035426, GO:0016055, GO:0007601, GO:0007399, GO:0007033, GO:0001890, Norrin signaling pathway, retina vasculature morphogenesis in camera-type eye, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription, DNA-templated, extracellular matrix-cell signaling, Wnt signaling pathway, visual perception, nervous system development, vacuole organization, placenta development, 0 0 0 0 0 0 0 0 0 ENSG00000124486 chrX 41085635 41236579 + USP9X protein_coding This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 8239 GO:0030426, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005634, growth cone, membrane, cytosol, cytosol, cytosol, cytoplasm, nucleus, GO:1990380, GO:0101005, GO:0070410, GO:0008234, GO:0005515, GO:0004843, GO:0004197, Lys48-specific deubiquitinase activity, ubiquitinyl hydrolase activity, co-SMAD binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:1901537, GO:0071947, GO:0071108, GO:0051301, GO:0050821, GO:0048675, GO:0048511, GO:0044267, GO:0042752, GO:0030509, GO:0016579, GO:0016579, GO:0016579, GO:0016579, GO:0016567, GO:0016477, GO:0007292, GO:0007179, GO:0007059, GO:0007049, GO:0006625, GO:0001764, GO:0000122, positive regulation of DNA demethylation, protein deubiquitination involved in ubiquitin-dependent protein catabolic process, protein K48-linked deubiquitination, cell division, protein stabilization, axon extension, rhythmic process, cellular protein metabolic process, regulation of circadian rhythm, BMP signaling pathway, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein ubiquitination, cell migration, female gamete generation, transforming growth factor beta receptor signaling pathway, chromosome segregation, cell cycle, protein targeting to peroxisome, neuron migration, negative regulation of transcription by RNA polymerase II, 3907 3896 6374 1422 2143 2137 1666 1556 1708 ENSG00000124490 chr6 49692358 49713590 - CRISP2 protein_coding 7180 GO:0005615, extracellular space, GO:0098609, cell-cell adhesion, 0 0 1 0 0 0 3 0 0 ENSG00000124491 chr6 6144085 6321013 - F13A1 protein_coding This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]. 2162 GO:0072562, GO:0062023, GO:0031093, GO:0005576, blood microparticle, collagen-containing extracellular matrix, platelet alpha granule lumen, extracellular region, GO:0046872, GO:0005515, GO:0003810, GO:0003810, metal ion binding, protein binding, protein-glutamine gamma-glutamyltransferase activity, protein-glutamine gamma-glutamyltransferase activity, GO:0072378, GO:0072378, GO:0019221, GO:0018149, GO:0018149, GO:0007596, GO:0002576, blood coagulation, fibrin clot formation, blood coagulation, fibrin clot formation, cytokine-mediated signaling pathway, peptide cross-linking, peptide cross-linking, blood coagulation, platelet degranulation, 31 61 44 28 36 41 31 38 35 ENSG00000124493 chr6 34018645 34155622 - GRM4 protein_coding L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 2914 GO:0098793, GO:0031410, GO:0005887, GO:0005887, GO:0005886, presynapse, cytoplasmic vesicle, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0008066, GO:0008066, GO:0004930, GO:0001642, glutamate receptor activity, glutamate receptor activity, G protein-coupled receptor activity, group III metabotropic glutamate receptor activity, GO:0051966, GO:0043523, GO:0043410, GO:0007269, GO:0007268, GO:0007216, GO:0007196, GO:0007186, GO:0000187, regulation of synaptic transmission, glutamatergic, regulation of neuron apoptotic process, positive regulation of MAPK cascade, neurotransmitter secretion, chemical synaptic transmission, G protein-coupled glutamate receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway, G protein-coupled receptor signaling pathway, activation of MAPK activity, 0 0 0 2 0 0 1 0 0 ENSG00000124496 chr6 42224931 42452051 - TRERF1 protein_coding This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. 55809 GO:0005829, GO:0005667, GO:0005654, GO:0005634, GO:0001650, GO:0000118, cytosol, transcription regulator complex, nucleoplasm, nucleus, fibrillar center, histone deacetylase complex, GO:0046872, GO:0033142, GO:0030374, GO:0008134, GO:0005515, GO:0003714, GO:0003713, GO:0003677, metal ion binding, progesterone receptor binding, nuclear receptor coactivator activity, transcription factor binding, protein binding, transcription corepressor activity, transcription coactivator activity, DNA binding, GO:0071393, GO:0050847, GO:0045944, GO:0045893, GO:0045892, GO:0016575, GO:0006357, cellular response to progesterone stimulus, progesterone receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, histone deacetylation, regulation of transcription by RNA polymerase II, 1011 1355 1053 829 1235 735 905 869 626 ENSG00000124507 chr6 34466061 34535231 + PACSIN1 protein_coding 29993 GO:0048471, GO:0045202, GO:0043679, GO:0032587, GO:0030659, GO:0030137, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005768, GO:0005737, GO:0005737, perinuclear region of cytoplasm, synapse, axon terminus, ruffle membrane, cytoplasmic vesicle membrane, COPI-coated vesicle, plasma membrane, plasma membrane, cytoskeleton, cytosol, endosome, cytoplasm, cytoplasm, GO:0042802, GO:0008092, GO:0005543, GO:0005543, GO:0005515, identical protein binding, cytoskeletal protein binding, phospholipid binding, phospholipid binding, protein binding, GO:1900006, GO:1900006, GO:0097320, GO:0097320, GO:0072659, GO:0072657, GO:0048812, GO:0048812, GO:0048488, GO:0045806, GO:0030100, GO:0007015, GO:0007010, positive regulation of dendrite development, positive regulation of dendrite development, plasma membrane tubulation, plasma membrane tubulation, protein localization to plasma membrane, protein localization to membrane, neuron projection morphogenesis, neuron projection morphogenesis, synaptic vesicle endocytosis, negative regulation of endocytosis, regulation of endocytosis, actin filament organization, cytoskeleton organization, 3 11 11 13 4 38 3 0 10 ENSG00000124508 chr6 26383096 26394874 + BTN2A2 protein_coding Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]. 10385 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:2000134, GO:0070373, GO:0051898, GO:0050860, GO:0050852, GO:0046007, GO:0045591, GO:0031324, GO:0014067, GO:0001818, GO:0001817, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of ERK1 and ERK2 cascade, negative regulation of protein kinase B signaling, negative regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, negative regulation of activated T cell proliferation, positive regulation of regulatory T cell differentiation, negative regulation of cellular metabolic process, negative regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cytokine production, regulation of cytokine production, 402 389 894 286 305 734 421 314 622 ENSG00000124523 chr6 13574529 13615158 + SIRT5 protein_coding This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010]. 23408 GO:0005829, GO:0005829, GO:0005759, GO:0005759, GO:0005758, GO:0005743, GO:0005739, GO:0005739, GO:0005634, cytosol, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleus, GO:0070403, GO:0061697, GO:0061697, GO:0036055, GO:0036055, GO:0036054, GO:0036054, GO:0034979, GO:0008270, GO:0003950, NAD+ binding, protein-glutaryllysine deglutarylase activity, protein-glutaryllysine deglutarylase activity, protein-succinyllysine desuccinylase activity, protein-succinyllysine desuccinylase activity, protein-malonyllysine demalonylase activity, protein-malonyllysine demalonylase activity, NAD-dependent protein deacetylase activity, zinc ion binding, NAD+ ADP-ribosyltransferase activity, GO:2000378, GO:1904229, GO:0061699, GO:0061698, GO:0061698, GO:0036049, GO:0036049, GO:0036048, GO:0036047, GO:0036047, GO:0036046, GO:0031667, GO:0010667, GO:0010566, GO:0007005, GO:0006476, GO:0006476, GO:0006471, GO:0006471, GO:0002931, negative regulation of reactive oxygen species metabolic process, regulation of succinate dehydrogenase activity, peptidyl-lysine deglutarylation, protein deglutarylation, protein deglutarylation, peptidyl-lysine desuccinylation, peptidyl-lysine desuccinylation, protein desuccinylation, peptidyl-lysine demalonylation, peptidyl-lysine demalonylation, protein demalonylation, response to nutrient levels, negative regulation of cardiac muscle cell apoptotic process, regulation of ketone biosynthetic process, mitochondrion organization, protein deacetylation, protein deacetylation, protein ADP-ribosylation, protein ADP-ribosylation, response to ischemia, 34 19 33 39 22 56 37 39 71 ENSG00000124532 chr6 24402908 24426194 + MRS2 protein_coding 57380 GO:0016021, GO:0005743, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0015095, GO:0015095, GO:0015095, magnesium ion transmembrane transporter activity, magnesium ion transmembrane transporter activity, magnesium ion transmembrane transporter activity, GO:0055085, GO:0045016, GO:0045016, GO:0015693, GO:0006089, transmembrane transport, mitochondrial magnesium ion transmembrane transport, mitochondrial magnesium ion transmembrane transport, magnesium ion transport, lactate metabolic process, 14 19 22 51 21 70 44 23 35 ENSG00000124535 chr6 2765414 2786952 + WRNIP1 protein_coding Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]. 56897 GO:0048471, GO:0016020, GO:0005634, GO:0005634, GO:0005634, GO:0000781, perinuclear region of cytoplasm, membrane, nucleus, nucleus, nucleus, chromosome, telomeric region, GO:0046872, GO:0042802, GO:0017116, GO:0016887, GO:0008047, GO:0005524, GO:0005515, GO:0003677, metal ion binding, identical protein binding, single-stranded DNA helicase activity, ATPase activity, enzyme activator activity, ATP binding, protein binding, DNA binding, GO:0045087, GO:0043085, GO:0032508, GO:0030174, GO:0006282, GO:0006261, GO:0000731, innate immune response, positive regulation of catalytic activity, DNA duplex unwinding, regulation of DNA-dependent DNA replication initiation, regulation of DNA repair, DNA-dependent DNA replication, DNA synthesis involved in DNA repair, 83 87 103 104 94 92 77 64 86 ENSG00000124541 chr6 43021645 43034156 + RRP36 protein_coding RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]. 88745 GO:0030686, GO:0005730, GO:0005730, GO:0005654, GO:0005654, 90S preribosome, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0003723, RNA binding, GO:0042274, GO:0006364, GO:0006364, GO:0000469, GO:0000462, ribosomal small subunit biogenesis, rRNA processing, rRNA processing, cleavage involved in rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 119 90 79 77 97 67 64 96 80 ENSG00000124549 chr6 26421391 26432383 + BTN2A3P transcribed_unprocessed_pseudogene The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]. 54718 GO:0016021, GO:0009897, integral component of membrane, external side of plasma membrane, GO:0005102, signaling receptor binding, GO:0050852, GO:0001817, T cell receptor signaling pathway, regulation of cytokine production, 30 42 48 43 39 33 93 37 21 ENSG00000124557 chr6 26501221 26510422 + BTN1A1 protein_coding Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]. 696 GO:0009897, GO:0005887, GO:0005886, GO:0005615, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, GO:0038023, GO:0005515, GO:0005102, signaling receptor activity, protein binding, signaling receptor binding, GO:0050852, GO:0001817, T cell receptor signaling pathway, regulation of cytokine production, 2 4 0 4 1 0 5 5 3 ENSG00000124562 chr6 34757406 34773794 + SNRPC protein_coding This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]. 6631 GO:0071004, GO:0015030, GO:0005685, GO:0005685, GO:0005654, GO:0005654, GO:0000243, U2-type prespliceosome, Cajal body, U1 snRNP, U1 snRNP, nucleoplasm, nucleoplasm, commitment complex, GO:1990446, GO:0042803, GO:0030627, GO:0030619, GO:0008270, GO:0005515, GO:0003729, GO:0003727, GO:0003723, U1 snRNP binding, protein homodimerization activity, pre-mRNA 5'-splice site binding, U1 snRNA binding, zinc ion binding, protein binding, mRNA binding, single-stranded RNA binding, RNA binding, GO:0000398, GO:0000398, GO:0000395, GO:0000387, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA 5'-splice site recognition, spliceosomal snRNP assembly, 60 70 56 64 80 72 51 78 55 ENSG00000124564 chr6 25833066 25882286 - SLC17A3 protein_coding The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]. 10786 GO:0048471, GO:0031526, GO:0016324, GO:0016021, GO:0005887, GO:0005887, GO:0005886, GO:0005789, GO:0005789, GO:0005764, GO:0005737, perinuclear region of cytoplasm, brush border membrane, apical plasma membrane, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, lysosome, cytoplasm, GO:0042910, GO:0042910, GO:0022857, GO:0019534, GO:0019534, GO:0015562, GO:0015562, GO:0015143, GO:0015143, GO:0015143, GO:0015136, GO:0008514, GO:0008308, GO:0008308, GO:0005436, GO:0005436, xenobiotic transmembrane transporter activity, xenobiotic transmembrane transporter activity, transmembrane transporter activity, toxin transmembrane transporter activity, toxin transmembrane transporter activity, efflux transmembrane transporter activity, efflux transmembrane transporter activity, urate transmembrane transporter activity, urate transmembrane transporter activity, urate transmembrane transporter activity, sialic acid transmembrane transporter activity, organic anion transmembrane transporter activity, voltage-gated anion channel activity, voltage-gated anion channel activity, sodium:phosphate symporter activity, sodium:phosphate symporter activity, GO:1990961, GO:1901998, GO:0046415, GO:0035725, GO:0034220, GO:0015760, GO:0015747, GO:0015747, GO:0015739, GO:0015711, GO:0006820, GO:0006817, GO:0006814, xenobiotic detoxification by transmembrane export across the plasma membrane, toxin transport, urate metabolic process, sodium ion transmembrane transport, ion transmembrane transport, glucose-6-phosphate transport, urate transport, urate transport, sialic acid transport, organic anion transport, anion transport, phosphate ion transport, sodium ion transport, 1 1 0 2 0 0 0 0 0 ENSG00000124568 chr6 25782897 25832059 - SLC17A1 protein_coding 6568 GO:0016324, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005764, apical plasma membrane, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, lysosome, GO:0022857, GO:0015136, GO:0015114, GO:0005436, transmembrane transporter activity, sialic acid transmembrane transporter activity, phosphate ion transmembrane transporter activity, sodium:phosphate symporter activity, GO:0046415, GO:0035725, GO:0035435, GO:0015747, GO:0015739, GO:0006820, GO:0006817, GO:0006811, urate metabolic process, sodium ion transmembrane transport, phosphate ion transmembrane transport, urate transport, sialic acid transport, anion transport, phosphate ion transport, ion transport, 0 0 2 2 0 0 0 0 0 ENSG00000124570 chr6 2948159 2972165 - SERPINB6 protein_coding The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]. 5269 GO:0101003, GO:0097180, GO:0070821, GO:0070062, GO:0062023, GO:0030667, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0005576, ficolin-1-rich granule membrane, serine protease inhibitor complex, tertiary granule membrane, extracellular exosome, collagen-containing extracellular matrix, secretory granule membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, extracellular space, extracellular region, GO:0004867, GO:0004867, GO:0002020, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, GO:0071470, GO:0043312, GO:0010951, GO:0010951, GO:0007605, cellular response to osmotic stress, neutrophil degranulation, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, sensory perception of sound, 96 138 147 182 137 209 164 119 147 ENSG00000124571 chr6 43522330 43576075 - XPO5 protein_coding This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]. 57510 GO:0042565, GO:0042565, GO:0016442, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, RNA nuclear export complex, RNA nuclear export complex, RISC complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1905172, GO:0070883, GO:0070883, GO:0070883, GO:0031267, GO:0031267, GO:0005515, GO:0005049, GO:0005049, GO:0003729, GO:0003723, GO:0003723, GO:0003723, GO:0000049, RISC complex binding, pre-miRNA binding, pre-miRNA binding, pre-miRNA binding, small GTPase binding, small GTPase binding, protein binding, nuclear export signal receptor activity, nuclear export signal receptor activity, mRNA binding, RNA binding, RNA binding, RNA binding, tRNA binding, GO:1900370, GO:0046825, GO:0035281, GO:0035281, GO:0035281, GO:0016032, GO:0010586, GO:0006611, GO:0006405, positive regulation of RNA interference, regulation of protein export from nucleus, pre-miRNA export from nucleus, pre-miRNA export from nucleus, pre-miRNA export from nucleus, viral process, miRNA metabolic process, protein export from nucleus, RNA export from nucleus, 31 22 44 77 26 60 72 36 32 ENSG00000124574 chr6 43427366 43450430 + ABCC10 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010]. 89845 GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005765, integral component of membrane, membrane, plasma membrane, plasma membrane, lysosomal membrane, GO:0042626, GO:0016887, GO:0005524, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, GO:0055085, GO:0055085, transmembrane transport, transmembrane transport, 42 47 90 93 55 124 68 43 114 ENSG00000124575 chr6 26234268 26234933 - HIST1H1D protein_coding Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 3007 GO:0005634, GO:0000791, GO:0000791, GO:0000786, GO:0000785, nucleus, euchromatin, euchromatin, nucleosome, chromatin, GO:0031492, GO:0031490, GO:0003723, GO:0003690, nucleosomal DNA binding, chromatin DNA binding, RNA binding, double-stranded DNA binding, GO:0098532, GO:0080182, GO:0045910, GO:0031936, GO:0030261, GO:0016584, GO:0006334, GO:0000122, histone H3-K27 trimethylation, histone H3-K4 trimethylation, negative regulation of DNA recombination, negative regulation of chromatin silencing, chromosome condensation, nucleosome positioning, nucleosome assembly, negative regulation of transcription by RNA polymerase II, 5 2 5 2 0 3 0 6 4 ENSG00000124587 chr6 42963870 42979220 - PEX6 protein_coding This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5190 GO:0097733, GO:0005829, GO:0005829, GO:0005829, GO:0005778, GO:0005777, GO:0005737, GO:0001750, photoreceptor cell cilium, cytosol, cytosol, cytosol, peroxisomal membrane, peroxisome, cytoplasm, photoreceptor outer segment, GO:0044877, GO:0016887, GO:0016887, GO:0008022, GO:0005524, GO:0005515, protein-containing complex binding, ATPase activity, ATPase activity, protein C-terminus binding, ATP binding, protein binding, GO:0050821, GO:0016561, GO:0016558, GO:0007031, GO:0006625, GO:0006625, protein stabilization, protein import into peroxisome matrix, translocation, protein import into peroxisome matrix, peroxisome organization, protein targeting to peroxisome, protein targeting to peroxisome, 74 159 92 62 197 71 67 133 68 ENSG00000124588 chr6 2987987 3028869 + NQO2 protein_coding This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 4835 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005654, extracellular exosome, cytosol, cytosol, cytosol, nucleoplasm, GO:1905594, GO:1904408, GO:0071949, GO:0042803, GO:0031404, GO:0016661, GO:0016491, GO:0009055, GO:0008270, GO:0005515, GO:0003955, GO:0001512, resveratrol binding, melatonin binding, FAD binding, protein homodimerization activity, chloride ion binding, oxidoreductase activity, acting on other nitrogenous compounds as donors, oxidoreductase activity, electron transfer activity, zinc ion binding, protein binding, NAD(P)H dehydrogenase (quinone) activity, dihydronicotinamide riboside quinone reductase activity, GO:2000379, GO:1904707, GO:0070374, GO:0055114, GO:0043525, GO:0022900, GO:0007613, GO:0006805, positive regulation of reactive oxygen species metabolic process, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of ERK1 and ERK2 cascade, oxidation-reduction process, positive regulation of neuron apoptotic process, electron transport chain, memory, xenobiotic metabolic process, 1259 1226 1876 504 1022 738 613 867 668 ENSG00000124593 chr6 41780349 41790141 + AL365205.1 protein_coding 2 3 3 7 5 3 0 3 0 ENSG00000124596 chr6 41033627 41097787 - OARD1 protein_coding The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]. 221443 GO:0090734, GO:0005730, GO:0005654, site of DNA damage, nucleolus, nucleoplasm, GO:0140293, GO:0061463, GO:0005515, GO:0001883, ADP-ribosylglutamate hydrolase activity, O-acetyl-ADP-ribose deacetylase activity, protein binding, purine nucleoside binding, GO:0140291, GO:0140291, GO:0051725, GO:0042278, GO:0006974, peptidyl-glutamate ADP-deribosylation, peptidyl-glutamate ADP-deribosylation, protein de-ADP-ribosylation, purine nucleoside metabolic process, cellular response to DNA damage stimulus, 311 252 347 216 228 308 237 184 218 ENSG00000124602 chr6 41026911 41039217 - UNC5CL protein_coding 222643 GO:0016021, GO:0016020, GO:0005737, integral component of membrane, membrane, cytoplasm, GO:0008233, GO:0005515, GO:0005042, peptidase activity, protein binding, netrin receptor activity, GO:0046330, GO:0046330, GO:0043123, GO:0043123, GO:0038007, GO:0006508, positive regulation of JNK cascade, positive regulation of JNK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, netrin-activated signaling pathway, proteolysis, 28 38 23 33 39 37 40 32 27 ENSG00000124608 chr6 44299654 44313326 - AARS2 protein_coding The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]. 57505 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0016597, GO:0008270, GO:0005524, GO:0005515, GO:0004813, GO:0004813, GO:0002161, GO:0000049, amino acid binding, zinc ion binding, ATP binding, protein binding, alanine-tRNA ligase activity, alanine-tRNA ligase activity, aminoacyl-tRNA editing activity, tRNA binding, GO:0106074, GO:0070143, GO:0006419, GO:0006400, aminoacyl-tRNA metabolism involved in translational fidelity, mitochondrial alanyl-tRNA aminoacylation, alanyl-tRNA aminoacylation, tRNA modification, 24 8 30 19 10 54 25 14 12 ENSG00000124610 chr6 26017085 26017732 - HIST1H1A protein_coding Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 3024 GO:0031982, GO:0009986, GO:0005634, GO:0000791, GO:0000791, GO:0000786, GO:0000785, vesicle, cell surface, nucleus, euchromatin, euchromatin, nucleosome, chromatin, GO:0031492, GO:0031490, GO:0008201, GO:0005515, GO:0003690, nucleosomal DNA binding, chromatin DNA binding, heparin binding, protein binding, double-stranded DNA binding, GO:0048260, GO:0045910, GO:0031936, GO:0030261, GO:0016584, GO:0007283, GO:0006334, positive regulation of receptor-mediated endocytosis, negative regulation of DNA recombination, negative regulation of chromatin silencing, chromosome condensation, nucleosome positioning, spermatogenesis, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000124613 chr6 27374615 27403904 + ZNF391 protein_coding 346157 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 2 2 0 5 1 5 0 ENSG00000124614 chr6 34417454 34426125 - RPS10 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]. 6204 GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005925, GO:0005840, GO:0005829, GO:0005829, GO:0005730, GO:0005654, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, focal adhesion, ribosome, cytosol, cytosol, nucleolus, nucleoplasm, GO:0005515, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, GO:0000028, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal small subunit assembly, 13 7 11 13 14 7 2 6 19 ENSG00000124615 chr6 39899578 39934551 - MOCS1 protein_coding Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]. 4337 GO:0019008, GO:0005829, GO:0005634, molybdopterin synthase complex, cytosol, nucleus, GO:0061799, GO:0061798, GO:0051539, GO:0046872, GO:0005525, cyclic pyranopterin monophosphate synthase activity, GTP 3',8'-cyclase activity, 4 iron, 4 sulfur cluster binding, metal ion binding, GTP binding, GO:0032324, GO:0006777, GO:0006777, molybdopterin cofactor biosynthetic process, Mo-molybdopterin cofactor biosynthetic process, Mo-molybdopterin cofactor biosynthetic process, 16 13 41 19 21 50 16 10 45 ENSG00000124635 chr6 27125897 27132750 - HIST1H2BJ protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]. 8970 GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0000786, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular space, nucleosome, GO:0046982, GO:0005515, GO:0003677, GO:0003677, GO:0001530, protein heterodimerization activity, protein binding, DNA binding, DNA binding, lipopolysaccharide binding, GO:0061844, GO:0050830, GO:0050829, GO:0031640, GO:0019731, GO:0016567, GO:0010804, GO:0006334, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, killing of cells of other organism, antibacterial humoral response, protein ubiquitination, negative regulation of tumor necrosis factor-mediated signaling pathway, nucleosome assembly, nucleosome assembly, innate immune response in mucosa, 92 60 93 37 64 85 52 93 73 ENSG00000124641 chr6 41905354 41921139 - MED20 protein_coding This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]. 9477 GO:0016592, GO:0016592, GO:0005654, GO:0000151, mediator complex, mediator complex, nucleoplasm, ubiquitin ligase complex, GO:0061630, GO:0005515, GO:0003899, GO:0003713, ubiquitin protein ligase activity, protein binding, DNA-directed 5'-3' RNA polymerase activity, transcription coactivator activity, GO:1903508, GO:0035914, GO:0016567, GO:0006367, GO:0006366, GO:0006357, GO:0006351, positive regulation of nucleic acid-templated transcription, skeletal muscle cell differentiation, protein ubiquitination, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, transcription, DNA-templated, 91 83 120 32 59 49 33 45 50 ENSG00000124657 chr6 27957241 27958182 + OR2B6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26212 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 2 13 9 10 14 11 12 9 7 ENSG00000124659 chr6 42744481 42746096 - TBCC protein_coding Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]. 6903 GO:0032391, GO:0005874, GO:0005856, GO:0005829, GO:0005737, GO:0005737, photoreceptor connecting cilium, microtubule, cytoskeleton, cytosol, cytoplasm, cytoplasm, GO:0051087, GO:0015631, GO:0005515, GO:0003924, chaperone binding, tubulin binding, protein binding, GTPase activity, GO:0007023, GO:0007021, GO:0006457, GO:0006457, GO:0000902, post-chaperonin tubulin folding pathway, tubulin complex assembly, protein folding, protein folding, cell morphogenesis, 572 401 629 83 154 133 134 109 89 ENSG00000124664 chr6 34537802 34556333 - SPDEF protein_coding The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 25803 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0060576, GO:0060480, GO:0045944, GO:0043065, GO:0030154, GO:0010455, GO:0010454, GO:0007275, GO:0006357, GO:0000122, intestinal epithelial cell development, lung goblet cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of apoptotic process, cell differentiation, positive regulation of cell fate commitment, negative regulation of cell fate commitment, multicellular organism development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 2 3 2 5 6 5 2 0 ENSG00000124678 chr6 35118071 35148610 - TCP11 protein_coding 6954 GO:0097225, GO:0036126, GO:0036126, GO:0036126, GO:0016021, GO:0001669, GO:0001669, GO:0001669, sperm midpiece, sperm flagellum, sperm flagellum, sperm flagellum, integral component of membrane, acrosomal vesicle, acrosomal vesicle, acrosomal vesicle, GO:1902490, GO:1902490, GO:0043949, GO:0030154, GO:0010737, GO:0010737, GO:0007283, GO:0007275, GO:0007165, regulation of sperm capacitation, regulation of sperm capacitation, regulation of cAMP-mediated signaling, cell differentiation, protein kinase A signaling, protein kinase A signaling, spermatogenesis, multicellular organism development, signal transduction, 0 4 0 1 0 3 0 1 0 ENSG00000124688 chr6 43629540 43640952 + MAD2L1BP protein_coding The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 9587 GO:0031965, GO:0005819, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, nuclear membrane, spindle, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0007096, GO:0007093, GO:0007093, regulation of exit from mitosis, mitotic cell cycle checkpoint, mitotic cell cycle checkpoint, 126 110 200 74 53 93 69 52 59 ENSG00000124701 chr6 41053304 41064511 + APOBEC2 protein_coding 10930 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0042802, GO:0004126, GO:0004126, GO:0003723, metal ion binding, identical protein binding, cytidine deaminase activity, cytidine deaminase activity, RNA binding, GO:0080111, GO:0080111, GO:0016556, GO:0016554, GO:0016554, GO:0009972, GO:0006397, DNA demethylation, DNA demethylation, mRNA modification, cytidine to uridine editing, cytidine to uridine editing, cytidine deamination, mRNA processing, 2 2 14 1 6 3 5 7 6 ENSG00000124702 chr6 43014103 43021298 + KLHDC3 protein_coding The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]. 116138 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0000785, GO:0000785, cytosol, cytoplasm, cytoplasm, nucleoplasm, chromatin, chromatin, GO:0005515, GO:0003682, GO:0003682, protein binding, chromatin binding, chromatin binding, GO:0036498, GO:0007131, IRE1-mediated unfolded protein response, reciprocal meiotic recombination, 171 172 195 116 184 126 102 196 101 ENSG00000124713 chr6 42960758 42963880 + GNMT protein_coding The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]. 27232 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:1904047, GO:0042802, GO:0042802, GO:0017174, GO:0017174, GO:0016594, GO:0016594, GO:0005542, GO:0005515, S-adenosyl-L-methionine binding, identical protein binding, identical protein binding, glycine N-methyltransferase activity, glycine N-methyltransferase activity, glycine binding, glycine binding, folic acid binding, protein binding, GO:1901052, GO:0051289, GO:0051289, GO:0046500, GO:0046500, GO:0046498, GO:0034641, GO:0032259, GO:0006730, GO:0006555, GO:0006464, GO:0006111, GO:0005977, sarcosine metabolic process, protein homotetramerization, protein homotetramerization, S-adenosylmethionine metabolic process, S-adenosylmethionine metabolic process, S-adenosylhomocysteine metabolic process, cellular nitrogen compound metabolic process, methylation, one-carbon metabolic process, methionine metabolic process, cellular protein modification process, regulation of gluconeogenesis, glycogen metabolic process, 23 28 29 62 40 59 60 36 33 ENSG00000124721 chr6 38715341 39030529 + DNAH8 protein_coding The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]. 1769 GO:0036157, GO:0036126, GO:0030286, GO:0005930, GO:0005874, GO:0005858, outer dynein arm, sperm flagellum, dynein complex, axoneme, microtubule, axonemal dynein complex, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0003777, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, microtubule motor activity, GO:0060285, GO:0036158, GO:0007018, cilium-dependent cell motility, outer dynein arm assembly, microtubule-based movement, 1 0 3 6 3 0 1 0 0 ENSG00000124731 chr6 41267926 41286719 - TREM1 protein_coding This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]. 54210 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0097110, GO:0038023, scaffold protein binding, signaling receptor activity, GO:0050900, GO:0050776, GO:0045087, GO:0035556, GO:0006959, GO:0002526, leukocyte migration, regulation of immune response, innate immune response, intracellular signal transduction, humoral immune response, acute inflammatory response, 17256 14909 23431 14924 18222 24437 18200 15899 20930 ENSG00000124733 chr6 43011143 43016868 - MEA1 protein_coding 4201 GO:0005515, protein binding, GO:0030154, GO:0008584, GO:0007283, cell differentiation, male gonad development, spermatogenesis, 210 188 222 138 193 266 147 161 139 ENSG00000124743 chr6 53647901 53665708 - KLHL31 protein_coding 401265 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046329, GO:0001933, negative regulation of JNK cascade, negative regulation of protein phosphorylation, 0 0 0 1 0 0 2 0 0 ENSG00000124749 chr6 56056590 56394094 - COL21A1 protein_coding This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 81578 GO:0062023, GO:0062023, GO:0062023, GO:0005829, GO:0005788, GO:0005615, GO:0005581, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, cytosol, endoplasmic reticulum lumen, extracellular space, collagen trimer, extracellular region, GO:0030020, extracellular matrix structural constituent conferring tensile strength, 0 0 0 0 0 0 0 0 0 ENSG00000124762 chr6 36676460 36687339 + CDKN1A protein_coding This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]. 1026 GO:0070557, GO:0070557, GO:0048471, GO:0032991, GO:0016604, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000307, PCNA-p21 complex, PCNA-p21 complex, perinuclear region of cytoplasm, protein-containing complex, nuclear body, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0140311, GO:0046872, GO:0044877, GO:0031625, GO:0030332, GO:0019912, GO:0019901, GO:0005515, GO:0004861, GO:0004860, protein sequestering activity, metal ion binding, protein-containing complex binding, ubiquitin protein ligase binding, cyclin binding, cyclin-dependent protein kinase activating kinase activity, protein kinase binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, protein kinase inhibitor activity, GO:2000379, GO:2000279, GO:2000134, GO:1905179, GO:1904706, GO:1904031, GO:1904030, GO:1902806, GO:0097193, GO:0090400, GO:0090399, GO:0090398, GO:0071850, GO:0071493, GO:0071480, GO:0071479, GO:0060574, GO:0055093, GO:0051412, GO:0050821, GO:0048146, GO:0046685, GO:0045860, GO:0045736, GO:0043068, GO:0043066, GO:0042771, GO:0042493, GO:0042326, GO:0042246, GO:0042060, GO:0034605, GO:0034198, GO:0032091, GO:0031668, GO:0031100, GO:0030890, GO:0030308, GO:0019221, GO:0010629, GO:0010243, GO:0010165, GO:0009636, GO:0008285, GO:0008285, GO:0007507, GO:0007265, GO:0007095, GO:0007050, GO:0007050, GO:0006978, GO:0006977, GO:0006977, GO:0006974, GO:0006606, GO:0006367, GO:0006357, GO:0000086, GO:0000082, GO:0000082, GO:0000079, positive regulation of reactive oxygen species metabolic process, negative regulation of DNA biosynthetic process, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of cardiac muscle tissue regeneration, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of cyclin-dependent protein kinase activity, negative regulation of cyclin-dependent protein kinase activity, regulation of cell cycle G1/S phase transition, intrinsic apoptotic signaling pathway, stress-induced premature senescence, replicative senescence, cellular senescence, mitotic cell cycle arrest, cellular response to UV-B, cellular response to gamma radiation, cellular response to ionizing radiation, intestinal epithelial cell maturation, response to hyperoxia, response to corticosterone, protein stabilization, positive regulation of fibroblast proliferation, response to arsenic-containing substance, positive regulation of protein kinase activity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of programmed cell death, negative regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, response to drug, negative regulation of phosphorylation, tissue regeneration, wound healing, cellular response to heat, cellular response to amino acid starvation, negative regulation of protein binding, cellular response to extracellular stimulus, animal organ regeneration, positive regulation of B cell proliferation, negative regulation of cell growth, cytokine-mediated signaling pathway, negative regulation of gene expression, response to organonitrogen compound, response to X-ray, response to toxic substance, negative regulation of cell population proliferation, negative regulation of cell population proliferation, heart development, Ras protein signal transduction, mitotic G2 DNA damage checkpoint, cell cycle arrest, cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, cellular response to DNA damage stimulus, protein import into nucleus, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 86 158 260 873 906 1121 649 590 764 ENSG00000124766 chr6 21592768 21598619 + SOX4 protein_coding This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]. 6659 GO:0005739, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, mitochondrion, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003700, GO:0001228, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000761, GO:0090263, GO:0071333, GO:0060993, GO:0060563, GO:0060548, GO:0060412, GO:0060174, GO:0050821, GO:0048485, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045727, GO:0045588, GO:0043065, GO:0042769, GO:0042593, GO:0035910, GO:0035019, GO:0032024, GO:0031647, GO:0031397, GO:0031018, GO:0030217, GO:0030154, GO:0021782, GO:0021522, GO:0021510, GO:0014009, GO:0009653, GO:0008285, GO:0008284, GO:0007507, GO:0006977, GO:0006355, GO:0006355, GO:0003357, GO:0003289, GO:0003215, GO:0003211, GO:0003183, GO:0002328, GO:0001841, GO:0001501, positive regulation of N-terminal peptidyl-lysine acetylation, positive regulation of canonical Wnt signaling pathway, cellular response to glucose stimulus, kidney morphogenesis, neuroepithelial cell differentiation, negative regulation of cell death, ventricular septum morphogenesis, limb bud formation, protein stabilization, sympathetic nervous system development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of translation, positive regulation of gamma-delta T cell differentiation, positive regulation of apoptotic process, DNA damage response, detection of DNA damage, glucose homeostasis, ascending aorta morphogenesis, somatic stem cell population maintenance, positive regulation of insulin secretion, regulation of protein stability, negative regulation of protein ubiquitination, endocrine pancreas development, T cell differentiation, cell differentiation, glial cell development, spinal cord motor neuron differentiation, spinal cord development, glial cell proliferation, anatomical structure morphogenesis, negative regulation of cell population proliferation, positive regulation of cell population proliferation, heart development, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, noradrenergic neuron differentiation, atrial septum primum morphogenesis, cardiac right ventricle morphogenesis, cardiac ventricle formation, mitral valve morphogenesis, pro-B cell differentiation, neural tube formation, skeletal system development, 7 6 13 11 3 9 9 7 8 ENSG00000124767 chr6 38675925 38703141 - GLO1 protein_coding The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008]. 2739 GO:0070062, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, extracellular exosome, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0008270, GO:0005515, GO:0004462, zinc ion binding, protein binding, lactoylglutathione lyase activity, GO:0043066, GO:0043066, GO:0043066, GO:0030316, GO:0009438, GO:0006749, GO:0006357, GO:0006090, GO:0005975, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, osteoclast differentiation, methylglyoxal metabolic process, glutathione metabolic process, regulation of transcription by RNA polymerase II, pyruvate metabolic process, carbohydrate metabolic process, 39 37 69 91 28 114 60 49 53 ENSG00000124772 chr6 36740775 36840002 - CPNE5 protein_coding Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]. 57699 GO:0070062, GO:0043204, GO:0043005, GO:0005886, extracellular exosome, perikaryon, neuron projection, plasma membrane, GO:0046872, GO:0005544, GO:0003674, metal ion binding, calcium-dependent phospholipid binding, molecular_function, GO:1903861, GO:0071277, positive regulation of dendrite extension, cellular response to calcium ion, 8 14 6 21 8 10 27 11 10 ENSG00000124780 chr6 39299001 39314553 - KCNK17 protein_coding The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 89822 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0022841, GO:0005267, GO:0005244, potassium ion leak channel activity, potassium channel activity, voltage-gated ion channel activity, GO:0071805, GO:0034765, GO:0030322, GO:0006813, potassium ion transmembrane transport, regulation of ion transmembrane transport, stabilization of membrane potential, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000124782 chr6 7107597 7251980 + RREB1 protein_coding The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 6239 GO:0070062, GO:0016607, GO:0016604, GO:0005737, GO:0005634, GO:0005634, GO:0001650, extracellular exosome, nuclear speck, nuclear body, cytoplasm, nucleus, nucleus, fibrillar center, GO:0046872, GO:0001228, GO:0001228, GO:0000978, GO:0000978, GO:0000977, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000394, GO:1903691, GO:1900026, GO:0090336, GO:0045944, GO:0045893, GO:0033601, GO:0010634, GO:0007275, GO:0007265, GO:0006366, GO:0006357, GO:0006355, GO:0000122, positive regulation of lamellipodium morphogenesis, positive regulation of wound healing, spreading of epidermal cells, positive regulation of substrate adhesion-dependent cell spreading, positive regulation of brown fat cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of mammary gland epithelial cell proliferation, positive regulation of epithelial cell migration, multicellular organism development, Ras protein signal transduction, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 531 677 736 451 525 563 468 362 478 ENSG00000124783 chr6 7268306 7347446 - SSR1 protein_coding The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. 6745 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, protein binding, GO:0036498, GO:0008284, GO:0006613, IRE1-mediated unfolded protein response, positive regulation of cell population proliferation, cotranslational protein targeting to membrane, 1122 993 1059 362 530 494 482 526 437 ENSG00000124784 chr6 7389496 7418037 + RIOK1 protein_coding The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]. 83732 GO:0034708, GO:0030688, GO:0030688, GO:0005829, GO:0005829, GO:0005829, GO:0005654, methyltransferase complex, preribosome, small subunit precursor, preribosome, small subunit precursor, cytosol, cytosol, cytosol, nucleoplasm, GO:0106311, GO:0106310, GO:0046872, GO:0016787, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, hydrolase activity, ATP binding, protein binding, protein serine/threonine kinase activity, GO:2000234, GO:0042274, GO:0030490, GO:0030490, GO:0006468, positive regulation of rRNA processing, ribosomal small subunit biogenesis, maturation of SSU-rRNA, maturation of SSU-rRNA, protein phosphorylation, 38 25 77 92 27 153 90 29 66 ENSG00000124785 chr6 5997999 6007605 - NRN1 protein_coding This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 51299 GO:0045202, GO:0031225, GO:0005886, GO:0005576, synapse, anchored component of membrane, plasma membrane, extracellular region, GO:0007399, nervous system development, 2 0 10 0 0 0 0 0 5 ENSG00000124786 chr6 8411463 8435611 - SLC35B3 protein_coding This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 51000 GO:0030176, GO:0030173, GO:0000139, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, Golgi membrane, GO:0046964, GO:0022857, 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity, transmembrane transporter activity, GO:1902559, GO:0050428, 3'-phospho-5'-adenylyl sulfate transmembrane transport, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, 114 96 114 108 97 97 90 94 88 ENSG00000124787 chr6 4994732 5004063 - RPP40 protein_coding 10799 GO:0030681, GO:0030681, GO:0005655, GO:0005654, GO:0005634, GO:0000172, multimeric ribonuclease P complex, multimeric ribonuclease P complex, nucleolar ribonuclease P complex, nucleoplasm, nucleus, ribonuclease MRP complex, GO:0033204, GO:0004526, GO:0004526, GO:0000171, ribonuclease P RNA binding, ribonuclease P activity, ribonuclease P activity, ribonuclease MRP activity, GO:1905267, GO:0001682, GO:0001682, GO:0001682, GO:0000447, endonucleolytic cleavage involved in tRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, tRNA 5'-leader removal, endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 3 0 2 0 0 0 0 1 1 ENSG00000124788 chr6 16299112 16761491 - ATXN1 protein_coding The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]. 6310 GO:0042405, GO:0016363, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, nuclear inclusion body, nuclear matrix, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0043621, GO:0042802, GO:0034046, GO:0008266, GO:0008022, GO:0005515, GO:0003677, protein self-association, identical protein binding, poly(G) binding, poly(U) RNA binding, protein C-terminus binding, protein binding, DNA binding, GO:0051168, GO:0048856, GO:0045892, GO:0035176, GO:0007613, GO:0007612, GO:0007420, GO:0007399, GO:0006396, GO:0006355, GO:0000122, nuclear export, anatomical structure development, negative regulation of transcription, DNA-templated, social behavior, memory, learning, brain development, nervous system development, RNA processing, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1274 1276 2230 619 983 1080 770 764 1090 ENSG00000124789 chr6 17615035 17706834 - NUP153 protein_coding Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. 9972 GO:0044615, GO:0043657, GO:0042405, GO:0034399, GO:0031965, GO:0016020, GO:0005829, GO:0005730, GO:0005654, GO:0005643, GO:0005643, nuclear pore nuclear basket, host cell, nuclear inclusion body, nuclear periphery, nuclear membrane, membrane, cytosol, nucleolus, nucleoplasm, nuclear pore, nuclear pore, GO:0046872, GO:0043495, GO:0042802, GO:0017056, GO:0017056, GO:0017056, GO:0008139, GO:0005515, GO:0003677, metal ion binding, protein-membrane adaptor activity, identical protein binding, structural constituent of nuclear pore, structural constituent of nuclear pore, structural constituent of nuclear pore, nuclear localization sequence binding, protein binding, DNA binding, GO:1900034, GO:0075733, GO:0075732, GO:0060964, GO:0051292, GO:0046832, GO:0046718, GO:0019083, GO:0016925, GO:0016032, GO:0006606, GO:0006409, GO:0006406, GO:0006405, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, viral penetration into host nucleus, regulation of gene silencing by miRNA, nuclear pore complex assembly, negative regulation of RNA export from nucleus, viral entry into host cell, viral transcription, protein sumoylation, viral process, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, regulation of glycolytic process, 2673 2637 3634 1446 1719 1854 1466 1300 1472 ENSG00000124795 chr6 18223868 18264823 - DEK protein_coding This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 7913 GO:0043292, GO:0005654, GO:0005654, GO:0005634, GO:0005634, contractile fiber, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0042393, GO:0005515, GO:0003723, GO:0003677, histone binding, histone binding, protein binding, RNA binding, DNA binding, GO:2001032, GO:2000779, GO:2000779, GO:0045815, GO:0019079, GO:0007165, GO:0006366, GO:0006357, GO:0006325, regulation of double-strand break repair via nonhomologous end joining, regulation of double-strand break repair, regulation of double-strand break repair, positive regulation of gene expression, epigenetic, viral genome replication, signal transduction, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin organization, 1210 1062 1327 492 735 689 533 671 592 ENSG00000124802 chr6 8073360 8102578 - EEF1E1 protein_coding This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010]. 9521 GO:0017101, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, aminoacyl-tRNA synthetase multienzyme complex, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0005515, protein binding, GO:2000774, GO:0043517, GO:0043065, GO:0008285, GO:0006418, positive regulation of cellular senescence, positive regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of apoptotic process, negative regulation of cell population proliferation, tRNA aminoacylation for protein translation, 3 6 4 8 4 6 0 4 10 ENSG00000124812 chr6 49834257 49877096 - CRISP1 protein_coding Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 167 GO:0005634, GO:0005615, nucleus, extracellular space, GO:0005246, calcium channel regulator activity, GO:0060046, GO:0007342, GO:0007339, regulation of acrosome reaction, fusion of sperm to egg plasma membrane involved in single fertilization, binding of sperm to zona pellucida, 0 0 0 0 0 0 0 0 0 ENSG00000124813 chr6 45328157 45664349 + RUNX2 protein_coding This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]. 860 GO:0005829, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, cytosol, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0070491, GO:0043425, GO:0019904, GO:0005524, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, repressing transcription factor binding, bHLH transcription factor binding, protein domain specific binding, ATP binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901522, GO:0071773, GO:0048863, GO:0048701, GO:0048469, GO:0045944, GO:0045893, GO:0045892, GO:0045879, GO:0045669, GO:0045595, GO:0042487, GO:0042475, GO:0040036, GO:0035115, GO:0032332, GO:0030509, GO:0030217, GO:0030182, GO:0030097, GO:0008284, GO:0006367, GO:0006357, GO:0002076, GO:0002063, GO:0002062, GO:0002051, GO:0001958, GO:0001649, GO:0001649, GO:0001503, GO:0001503, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, cellular response to BMP stimulus, stem cell differentiation, embryonic cranial skeleton morphogenesis, cell maturation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of smoothened signaling pathway, positive regulation of osteoblast differentiation, regulation of cell differentiation, regulation of odontogenesis of dentin-containing tooth, odontogenesis of dentin-containing tooth, regulation of fibroblast growth factor receptor signaling pathway, embryonic forelimb morphogenesis, positive regulation of chondrocyte differentiation, BMP signaling pathway, T cell differentiation, neuron differentiation, hemopoiesis, positive regulation of cell population proliferation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, osteoblast development, chondrocyte development, chondrocyte differentiation, osteoblast fate commitment, endochondral ossification, osteoblast differentiation, osteoblast differentiation, ossification, ossification, 805 1157 938 426 962 740 517 686 598 ENSG00000124818 chr6 47781982 47832780 + OPN5 protein_coding Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]. 221391 GO:0005887, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0008020, GO:0008020, GO:0005502, G protein-coupled photoreceptor activity, G protein-coupled photoreceptor activity, 11-cis retinal binding, GO:1990384, GO:0071492, GO:0071482, GO:0071482, GO:0043153, GO:0018298, GO:0009584, GO:0007604, GO:0007602, GO:0007602, GO:0007601, GO:0007186, hyaloid vascular plexus regression, cellular response to UV-A, cellular response to light stimulus, cellular response to light stimulus, entrainment of circadian clock by photoperiod, protein-chromophore linkage, detection of visible light, phototransduction, UV, phototransduction, phototransduction, visual perception, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000124827 chr6 10873223 10881941 - GCM2 protein_coding This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]. 9247 GO:0005634, GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0043565, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, sequence-specific DNA binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060017, GO:0045944, GO:0042063, GO:0030643, GO:0007275, GO:0006874, GO:0006366, GO:0006357, parathyroid gland development, positive regulation of transcription by RNA polymerase II, gliogenesis, cellular phosphate ion homeostasis, multicellular organism development, cellular calcium ion homeostasis, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000124831 chr2 237627576 237813682 + LRRFIP1 protein_coding 9208 GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005634, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, nucleus, GO:0045296, GO:0042803, GO:0005515, GO:0003725, GO:0003677, GO:0001227, GO:0000981, GO:0000978, GO:0000978, cadherin binding, protein homodimerization activity, protein binding, double-stranded RNA binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051092, GO:0032481, GO:0006357, GO:0000122, positive regulation of NF-kappaB transcription factor activity, positive regulation of type I interferon production, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 11611 11867 12841 3528 6832 5129 4638 6197 4526 ENSG00000124835 chr2 237048599 237056167 - AC105760.1 antisense 93463 0 0 0 0 0 0 0 0 0 ENSG00000124839 chr2 237574322 237601614 - RAB17 protein_coding The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]. 64284 GO:0070062, GO:0055038, GO:0055038, GO:0055037, GO:0043025, GO:0042470, GO:0030425, GO:0030139, GO:0016324, GO:0016323, GO:0012505, GO:0005886, GO:0005769, GO:0005768, extracellular exosome, recycling endosome membrane, recycling endosome membrane, recycling endosome, neuronal cell body, melanosome, dendrite, endocytic vesicle, apical plasma membrane, basolateral plasma membrane, endomembrane system, plasma membrane, early endosome, endosome, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0060271, GO:0051963, GO:0051489, GO:0050773, GO:0046847, GO:0045056, GO:0032456, GO:0032456, GO:0032402, GO:0032401, GO:0030100, GO:0006897, GO:0006886, GO:0002415, cilium assembly, regulation of synapse assembly, regulation of filopodium assembly, regulation of dendrite development, filopodium assembly, transcytosis, endocytic recycling, endocytic recycling, melanosome transport, establishment of melanosome localization, regulation of endocytosis, endocytosis, intracellular protein transport, immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor, 0 1 0 0 1 0 0 1 0 ENSG00000124875 chr4 73836497 73849064 + CXCL6 protein_coding The protein encoded by this gene is a member CXC chemokine family. The encoded protein is a chemotactic for neutrophil granulocytes and has antibacterial action against gram-negative and gram-positive bacteria. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Jun 2020]. 6372 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0045236, GO:0008201, GO:0008009, GO:0008009, GO:0005515, CXCR chemokine receptor binding, heparin binding, chemokine activity, chemokine activity, protein binding, GO:0071222, GO:0071222, GO:0070951, GO:0070098, GO:0061844, GO:0061844, GO:0042742, GO:0042119, GO:0032642, GO:0030593, GO:0030593, GO:0007267, GO:0007186, GO:0007165, GO:0006954, GO:0006935, GO:0001776, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, regulation of neutrophil mediated killing of gram-negative bacterium, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to bacterium, neutrophil activation, regulation of chemokine production, neutrophil chemotaxis, neutrophil chemotaxis, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, leukocyte homeostasis, 111 115 116 22 61 64 30 57 41 ENSG00000124882 chr4 74365143 74388751 + EREG protein_coding This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]. 2069 GO:0030665, GO:0005887, GO:0005615, GO:0005615, GO:0005576, clathrin-coated vesicle membrane, integral component of plasma membrane, extracellular space, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005154, GO:0005154, GO:0005154, growth factor activity, protein binding, epidermal growth factor receptor binding, epidermal growth factor receptor binding, epidermal growth factor receptor binding, GO:2000145, GO:0061024, GO:0051897, GO:0051781, GO:0051151, GO:0050680, GO:0048661, GO:0048160, GO:0048146, GO:0045892, GO:0045860, GO:0045840, GO:0045840, GO:0045741, GO:0045741, GO:0045740, GO:0045740, GO:0045740, GO:0045089, GO:0043616, GO:0042700, GO:0042327, GO:0042327, GO:0042060, GO:0042059, GO:0038128, GO:0032755, GO:0030728, GO:0030216, GO:0019221, GO:0009887, GO:0009653, GO:0009299, GO:0008285, GO:0008284, GO:0008284, GO:0008284, GO:0007267, GO:0007173, GO:0007173, GO:0007173, GO:0007165, GO:0007143, GO:0001819, GO:0001819, GO:0001556, GO:0001550, GO:0001525, GO:0000165, regulation of cell motility, membrane organization, positive regulation of protein kinase B signaling, positive regulation of cell division, negative regulation of smooth muscle cell differentiation, negative regulation of epithelial cell proliferation, positive regulation of smooth muscle cell proliferation, primary follicle stage, positive regulation of fibroblast proliferation, negative regulation of transcription, DNA-templated, positive regulation of protein kinase activity, positive regulation of mitotic nuclear division, positive regulation of mitotic nuclear division, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of DNA replication, positive regulation of DNA replication, positive regulation of DNA replication, positive regulation of innate immune response, keratinocyte proliferation, luteinizing hormone signaling pathway, positive regulation of phosphorylation, positive regulation of phosphorylation, wound healing, negative regulation of epidermal growth factor receptor signaling pathway, ERBB2 signaling pathway, positive regulation of interleukin-6 production, ovulation, keratinocyte differentiation, cytokine-mediated signaling pathway, animal organ morphogenesis, anatomical structure morphogenesis, mRNA transcription, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, female meiotic nuclear division, positive regulation of cytokine production, positive regulation of cytokine production, oocyte maturation, ovarian cumulus expansion, angiogenesis, MAPK cascade, 4 30 55 18 46 104 87 123 134 ENSG00000124900 chr11 55883297 55891810 + TRIM51 protein_coding 84767 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000124915 chr11 61746493 61757655 - DKFZP434K028 lincRNA 26070 0 0 0 0 2 0 0 0 0 ENSG00000124920 chr11 61752642 61788518 + MYRF protein_coding This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 745 GO:0016021, GO:0005829, GO:0005794, GO:0005789, GO:0005789, GO:0005654, GO:0005634, GO:0005634, integral component of membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, nucleoplasm, nucleus, nucleus, GO:0043565, GO:0008233, GO:0003700, GO:0000981, sequence-specific DNA binding, peptidase activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0048709, GO:0045893, GO:0045893, GO:0032286, GO:0032286, GO:0031643, GO:0022010, GO:0016540, GO:0016540, GO:0014003, GO:0006357, oligodendrocyte differentiation, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, central nervous system myelin maintenance, central nervous system myelin maintenance, positive regulation of myelination, central nervous system myelination, protein autoprocessing, protein autoprocessing, oligodendrocyte development, regulation of transcription by RNA polymerase II, 4 5 5 9 11 19 8 8 10 ENSG00000124935 chr11 62242210 62244808 + SCGB1D2 protein_coding The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]. 10647 GO:0005615, GO:0005615, extracellular space, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000124939 chr11 62208668 62213939 + SCGB2A1 protein_coding 4246 GO:0005615, GO:0005615, GO:0005615, extracellular space, extracellular space, extracellular space, GO:0005515, protein binding, GO:0030521, GO:0030521, androgen receptor signaling pathway, androgen receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000124942 chr11 62433542 62556235 - AHNAK protein_coding The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]. 79026 GO:0070062, GO:0070062, GO:0045121, GO:0044291, GO:0043034, GO:0043034, GO:0042383, GO:0042383, GO:0031982, GO:0030315, GO:0016020, GO:0015629, GO:0005925, GO:0005886, GO:0005829, GO:0005829, GO:0005765, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005634, extracellular exosome, extracellular exosome, membrane raft, cell-cell contact zone, costamere, costamere, sarcolemma, sarcolemma, vesicle, T-tubule, membrane, actin cytoskeleton, focal adhesion, plasma membrane, cytosol, cytosol, lysosomal membrane, cytoplasm, cytoplasm, nucleus, nucleus, nucleus, GO:0097493, GO:0045296, GO:0044548, GO:0005515, GO:0003723, structural molecule activity conferring elasticity, cadherin binding, S100 protein binding, protein binding, RNA binding, GO:1901385, GO:0043484, GO:0043484, regulation of voltage-gated calcium channel activity, regulation of RNA splicing, regulation of RNA splicing, 3136 2353 8138 4668 1783 5893 5773 1792 5999 ENSG00000125037 chr3 9962537 10011116 - EMC3 protein_coding 55831 GO:0072546, GO:0072546, GO:0016021, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 679 626 737 267 461 340 327 372 329 ENSG00000125046 chr3 8619400 8745040 - SSUH2 protein_coding 51066 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0042476, odontogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000125084 chr12 48978453 48981676 + WNT1 protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]. 7471 GO:0070062, GO:0030666, GO:0009986, GO:0005886, GO:0005796, GO:0005788, GO:0005737, GO:0005615, GO:0005576, extracellular exosome, endocytic vesicle membrane, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, cytoplasm, extracellular space, extracellular region, GO:0048018, GO:0048018, GO:0048018, GO:0019904, GO:0016015, GO:0005125, GO:0005125, GO:0005109, GO:0005109, GO:0005109, receptor ligand activity, receptor ligand activity, receptor ligand activity, protein domain specific binding, morphogen activity, cytokine activity, cytokine activity, frizzled binding, frizzled binding, frizzled binding, GO:2000059, GO:1990403, GO:1904954, GO:1904953, GO:1904953, GO:1904886, GO:1903204, GO:0090344, GO:0071425, GO:0071375, GO:0070365, GO:0061184, GO:0060348, GO:0060071, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0060061, GO:0051091, GO:0048664, GO:0048146, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045747, GO:0045599, GO:0045165, GO:0043568, GO:0043066, GO:0042770, GO:0042472, GO:0036520, GO:0033278, GO:0033077, GO:0031100, GO:0030901, GO:0030579, GO:0030514, GO:0030512, GO:0030182, GO:0022408, GO:0022004, GO:0021797, GO:0021588, GO:0021551, GO:0021536, GO:0021527, GO:0016055, GO:0010812, GO:0010592, GO:0009611, GO:0008284, GO:0008284, GO:0007520, GO:0007267, GO:0001934, GO:0001658, GO:0000578, negative regulation of ubiquitin-dependent protein catabolic process, embryonic brain development, canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, beta-catenin destruction complex disassembly, negative regulation of oxidative stress-induced neuron death, negative regulation of cell aging, hematopoietic stem cell proliferation, cellular response to peptide hormone stimulus, hepatocyte differentiation, positive regulation of dermatome development, bone development, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, Spemann organizer formation, positive regulation of DNA-binding transcription factor activity, neuron fate determination, positive regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, negative regulation of fat cell differentiation, cell fate commitment, positive regulation of insulin-like growth factor receptor signaling pathway, negative regulation of apoptotic process, signal transduction in response to DNA damage, inner ear morphogenesis, astrocyte-dopaminergic neuron signaling, cell proliferation in midbrain, T cell differentiation in thymus, animal organ regeneration, midbrain development, ubiquitin-dependent SMAD protein catabolic process, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, neuron differentiation, negative regulation of cell-cell adhesion, midbrain-hindbrain boundary maturation during brain development, forebrain anterior/posterior pattern specification, cerebellum formation, central nervous system morphogenesis, diencephalon development, spinal cord association neuron differentiation, Wnt signaling pathway, negative regulation of cell-substrate adhesion, positive regulation of lamellipodium assembly, response to wounding, positive regulation of cell population proliferation, positive regulation of cell population proliferation, myoblast fusion, cell-cell signaling, positive regulation of protein phosphorylation, branching involved in ureteric bud morphogenesis, embryonic axis specification, 0 2 2 8 0 0 10 2 2 ENSG00000125089 chr4 8182072 8241803 + SH3TC1 protein_coding 54436 GO:0005575, cellular_component, GO:0008150, biological_process, 25 14 57 40 29 59 40 33 79 ENSG00000125107 chr16 58519951 58629886 - CNOT1 protein_coding 23019 GO:0030015, GO:0030014, GO:0016020, GO:0005829, GO:0005829, GO:0005634, GO:0005615, GO:0000932, GO:0000932, GO:0000932, CCR4-NOT core complex, CCR4-NOT complex, membrane, cytosol, cytosol, nucleus, extracellular space, P-body, P-body, P-body, GO:0070016, GO:0060090, GO:0060090, GO:0042974, GO:0030331, GO:0019904, GO:0005515, GO:0004535, GO:0003723, armadillo repeat domain binding, molecular adaptor activity, molecular adaptor activity, retinoic acid receptor binding, estrogen receptor binding, protein domain specific binding, protein binding, poly(A)-specific ribonuclease activity, RNA binding, GO:2000036, GO:1900153, GO:0090503, GO:0061014, GO:0060213, GO:0060213, GO:0048387, GO:0035195, GO:0033147, GO:0017148, GO:0017148, GO:0010606, GO:0007275, GO:0006977, GO:0000289, GO:0000288, GO:0000122, regulation of stem cell population maintenance, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, RNA phosphodiester bond hydrolysis, exonucleolytic, positive regulation of mRNA catabolic process, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, negative regulation of retinoic acid receptor signaling pathway, gene silencing by miRNA, negative regulation of intracellular estrogen receptor signaling pathway, negative regulation of translation, negative regulation of translation, positive regulation of cytoplasmic mRNA processing body assembly, multicellular organism development, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, negative regulation of transcription by RNA polymerase II, 2267 2510 2710 1317 1563 1757 1547 1266 1419 ENSG00000125122 chr16 67207139 67227048 - LRRC29 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]. 26231 GO:0005515, protein binding, 41 57 38 34 48 40 61 32 25 ENSG00000125124 chr16 56466836 56520283 - BBS2 protein_coding This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]. 583 GO:0060170, GO:0043005, GO:0036064, GO:0036064, GO:0034464, GO:0034464, GO:0032420, GO:0031514, GO:0031514, GO:0016020, GO:0005902, GO:0005829, ciliary membrane, neuron projection, ciliary basal body, ciliary basal body, BBSome, BBSome, stereocilium, motile cilium, motile cilium, membrane, microvillus, cytosol, GO:0005515, GO:0001103, protein binding, RNA polymerase II repressing transcription factor binding, GO:1905515, GO:0060296, GO:0060271, GO:0060271, GO:0051216, GO:0048854, GO:0045494, GO:0045444, GO:0043001, GO:0042311, GO:0040018, GO:0040015, GO:0038108, GO:0033365, GO:0032402, GO:0030534, GO:0021987, GO:0021766, GO:0021756, GO:0014824, GO:0010629, GO:0008104, GO:0007601, GO:0007288, non-motile cilium assembly, regulation of cilium beat frequency involved in ciliary motility, cilium assembly, cilium assembly, cartilage development, brain morphogenesis, photoreceptor cell maintenance, fat cell differentiation, Golgi to plasma membrane protein transport, vasodilation, positive regulation of multicellular organism growth, negative regulation of multicellular organism growth, negative regulation of appetite by leptin-mediated signaling pathway, protein localization to organelle, melanosome transport, adult behavior, cerebral cortex development, hippocampus development, striatum development, artery smooth muscle contraction, negative regulation of gene expression, protein localization, visual perception, sperm axoneme assembly, 38 76 119 115 90 199 88 81 122 ENSG00000125144 chr16 56666731 56668065 - MT1G protein_coding 4495 GO:0005829, GO:0005764, GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytosol, lysosome, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, GO:0005507, metal ion binding, zinc ion binding, protein binding, copper ion binding, GO:0071294, GO:0071294, GO:0071294, GO:0071280, GO:0071280, GO:0071276, GO:0071276, GO:0071247, GO:0045926, GO:0043524, GO:0042117, GO:0035924, GO:0030224, GO:0010273, GO:0007263, GO:0006882, cellular response to zinc ion, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to copper ion, cellular response to cadmium ion, cellular response to cadmium ion, cellular response to chromate, negative regulation of growth, negative regulation of neuron apoptotic process, monocyte activation, cellular response to vascular endothelial growth factor stimulus, monocyte differentiation, detoxification of copper ion, nitric oxide mediated signal transduction, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000125148 chr16 56608199 56609497 + MT2A protein_coding This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]. 4502 GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0071294, GO:0071294, GO:0071280, GO:0071276, GO:0060333, GO:0045926, GO:0036018, GO:0036016, GO:0010273, GO:0010038, GO:0009617, GO:0007263, GO:0006882, GO:0006878, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, interferon-gamma-mediated signaling pathway, negative regulation of growth, cellular response to erythropoietin, cellular response to interleukin-3, detoxification of copper ion, response to metal ion, response to bacterium, nitric oxide mediated signal transduction, cellular zinc ion homeostasis, cellular copper ion homeostasis, 26 30 50 15 42 53 31 38 48 ENSG00000125149 chr16 67109958 67148539 + C16orf70 protein_coding 80262 GO:0030672, GO:0030425, GO:0005802, synaptic vesicle membrane, dendrite, trans-Golgi network, GO:0005515, protein binding, GO:0043001, Golgi to plasma membrane protein transport, 84 106 100 95 148 116 105 105 87 ENSG00000125166 chr16 58707131 58734357 - GOT2 protein_coding Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. 2806 GO:0070062, GO:0043204, GO:0032991, GO:0030315, GO:0009986, GO:0005886, GO:0005759, GO:0005743, GO:0005739, GO:0005739, GO:0005739, GO:0005739, extracellular exosome, perikaryon, protein-containing complex, T-tubule, cell surface, plasma membrane, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, mitochondrion, mitochondrion, mitochondrion, GO:0042802, GO:0030170, GO:0019899, GO:0016597, GO:0016212, GO:0005543, GO:0004069, GO:0004069, GO:0004069, GO:0003723, identical protein binding, pyridoxal phosphate binding, enzyme binding, amino acid binding, kynurenine-oxoglutarate transaminase activity, phospholipid binding, L-aspartate:2-oxoglutarate aminotransferase activity, L-aspartate:2-oxoglutarate aminotransferase activity, L-aspartate:2-oxoglutarate aminotransferase activity, RNA binding, GO:0097052, GO:0046487, GO:0045471, GO:0043278, GO:0032868, GO:0019551, GO:0019550, GO:0019470, GO:0015908, GO:0014850, GO:0008652, GO:0007595, GO:0007565, GO:0006536, GO:0006533, GO:0006533, GO:0006532, GO:0006531, GO:0006107, GO:0006103, GO:0006094, L-kynurenine metabolic process, glyoxylate metabolic process, response to ethanol, response to morphine, response to insulin, glutamate catabolic process to 2-oxoglutarate, glutamate catabolic process to aspartate, 4-hydroxyproline catabolic process, fatty acid transport, response to muscle activity, cellular amino acid biosynthetic process, lactation, female pregnancy, glutamate metabolic process, aspartate catabolic process, aspartate catabolic process, aspartate biosynthetic process, aspartate metabolic process, oxaloacetate metabolic process, 2-oxoglutarate metabolic process, gluconeogenesis, 23 12 25 59 23 63 56 21 23 ENSG00000125170 chr16 57471922 57487327 - DOK4 protein_coding 55715 GO:0005829, cytosol, GO:0005515, protein binding, GO:0007411, axon guidance, 64 61 77 25 28 45 16 24 17 ENSG00000125207 chr12 130337887 130372637 + PIWIL1 protein_coding This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 9271 GO:0097433, GO:0043186, GO:0033391, GO:0005737, GO:0005634, dense body, P granule, chromatoid body, cytoplasm, nucleus, GO:1905538, GO:0140262, GO:0046872, GO:0034584, GO:0019901, GO:0005515, GO:0004521, GO:0003729, GO:0003727, polysome binding, mRNA cap binding complex binding, metal ion binding, piRNA binding, protein kinase binding, protein binding, endoribonuclease activity, mRNA binding, single-stranded RNA binding, GO:0090502, GO:0051321, GO:0035093, GO:0034587, GO:0031047, GO:0010529, GO:0007286, GO:0007286, GO:0007283, GO:0007275, GO:0006417, RNA phosphodiester bond hydrolysis, endonucleolytic, meiotic cell cycle, spermatogenesis, exchange of chromosomal proteins, piRNA metabolic process, gene silencing by RNA, negative regulation of transposition, spermatid development, spermatid development, spermatogenesis, multicellular organism development, regulation of translation, 0 0 0 0 0 0 0 0 0 ENSG00000125245 chr13 99254714 99261744 - GPR18 protein_coding 2841 GO:0030659, GO:0016021, GO:0005887, GO:0005886, cytoplasmic vesicle membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0004930, GO:0004930, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0051482, GO:0035025, GO:0032720, GO:0007186, GO:0007186, GO:0002689, GO:0002305, GO:0002300, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of Rho protein signal transduction, negative regulation of tumor necrosis factor production, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, negative regulation of leukocyte chemotaxis, CD8-positive, gamma-delta intraepithelial T cell differentiation, CD8-positive, alpha-beta intraepithelial T cell differentiation, 29 30 34 22 19 47 45 37 33 ENSG00000125246 chr13 99606669 99897134 + CLYBL protein_coding 171425 GO:0005739, mitochondrion, GO:0047777, GO:0047777, GO:0016787, GO:0004474, GO:0000287, (S)-citramalyl-CoA lyase activity, (S)-citramalyl-CoA lyase activity, hydrolase activity, malate synthase activity, magnesium ion binding, GO:0106121, GO:0106064, GO:0106064, GO:0070207, positive regulation of cobalamin metabolic process, regulation of cobalamin metabolic process, regulation of cobalamin metabolic process, protein homotrimerization, 5 1 10 18 9 12 9 9 17 ENSG00000125247 chr13 100603927 100675093 - TMTC4 protein_coding This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]. 84899 GO:0016021, GO:0005783, integral component of membrane, endoplasmic reticulum, GO:0051117, GO:0004169, GO:0000030, ATPase binding, dolichyl-phosphate-mannose-protein mannosyltransferase activity, mannosyltransferase activity, GO:1905584, GO:0035269, GO:0032470, GO:0030968, GO:0007605, outer hair cell apoptotic process, protein O-linked mannosylation, positive regulation of endoplasmic reticulum calcium ion concentration, endoplasmic reticulum unfolded protein response, sensory perception of sound, 8 5 16 25 4 35 21 7 38 ENSG00000125249 chr13 97434222 97469128 + RAP2A protein_coding 5911 GO:0055038, GO:0055037, GO:0030496, GO:0005886, GO:0005886, GO:0005829, recycling endosome membrane, recycling endosome, midbody, plasma membrane, plasma membrane, cytosol, GO:0019003, GO:0019003, GO:0005525, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0000287, GDP binding, GDP binding, GTP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, magnesium ion binding, GO:0072659, GO:0048814, GO:0046328, GO:0045198, GO:0045184, GO:0035690, GO:0034613, GO:0032486, GO:0032486, GO:0031954, GO:0031532, GO:0030336, GO:0030033, GO:0001934, protein localization to plasma membrane, regulation of dendrite morphogenesis, regulation of JNK cascade, establishment of epithelial cell apical/basal polarity, establishment of protein localization, cellular response to drug, cellular protein localization, Rap protein signal transduction, Rap protein signal transduction, positive regulation of protein autophosphorylation, actin cytoskeleton reorganization, negative regulation of cell migration, microvillus assembly, positive regulation of protein phosphorylation, 36 65 83 90 71 158 83 57 146 ENSG00000125255 chr13 103043998 103066846 - SLC10A2 protein_coding This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]. 6555 GO:0016324, GO:0005902, GO:0005887, GO:0005886, apical plasma membrane, microvillus, integral component of plasma membrane, plasma membrane, GO:0008508, GO:0008508, GO:0005515, bile acid:sodium symporter activity, bile acid:sodium symporter activity, protein binding, GO:0055085, GO:0015721, GO:0015721, GO:0009617, GO:0006814, transmembrane transport, bile acid and bile salt transport, bile acid and bile salt transport, response to bacterium, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000125257 chr13 95019829 95301475 - ABCC4 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 10257 GO:0098591, GO:0031088, GO:0031088, GO:0016324, GO:0016323, GO:0016323, GO:0016021, GO:0016020, GO:0016020, GO:0016020, GO:0005886, GO:0005886, GO:0005886, external side of apical plasma membrane, platelet dense granule membrane, platelet dense granule membrane, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, membrane, membrane, plasma membrane, plasma membrane, plasma membrane, GO:0042910, GO:0042626, GO:0016887, GO:0016404, GO:0015662, GO:0015562, GO:0005524, GO:0005515, xenobiotic transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATPase activity, 15-hydroxyprostaglandin dehydrogenase (NAD+) activity, ion transmembrane transporter activity, phosphorylative mechanism, efflux transmembrane transporter activity, ATP binding, protein binding, GO:0150104, GO:0140115, GO:0060271, GO:0055114, GO:0055085, GO:0055085, GO:0048661, GO:0042908, GO:0042493, GO:0038183, GO:0034220, GO:0032310, GO:0014070, GO:0010243, GO:0002576, transport across blood-brain barrier, export across plasma membrane, cilium assembly, oxidation-reduction process, transmembrane transport, transmembrane transport, positive regulation of smooth muscle cell proliferation, xenobiotic transport, response to drug, bile acid signaling pathway, ion transmembrane transport, prostaglandin secretion, response to organic cyclic compound, response to organonitrogen compound, platelet degranulation, 10 12 22 24 10 18 31 10 23 ENSG00000125266 chr13 106489731 106535662 - EFNB2 protein_coding This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]. 1948 GO:0099061, GO:0099056, GO:0098978, GO:0005925, GO:0005912, GO:0005887, GO:0005886, GO:0005886, GO:0005886, integral component of postsynaptic density membrane, integral component of presynaptic membrane, glutamatergic synapse, focal adhesion, adherens junction, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0046875, GO:0046875, GO:0005515, GO:0001618, ephrin receptor binding, ephrin receptor binding, protein binding, virus receptor activity, GO:2000727, GO:1903849, GO:1901216, GO:0099149, GO:0099054, GO:0072178, GO:0050920, GO:0048845, GO:0048514, GO:0048013, GO:0048013, GO:0048013, GO:0046718, GO:0034332, GO:0031295, GO:0010977, GO:0010839, GO:0009887, GO:0009653, GO:0008284, GO:0007411, GO:0007267, GO:0007155, GO:0002042, GO:0001945, positive regulation of cardiac muscle cell differentiation, positive regulation of aorta morphogenesis, positive regulation of neuron death, regulation of postsynaptic neurotransmitter receptor internalization, presynapse assembly, nephric duct morphogenesis, regulation of chemotaxis, venous blood vessel morphogenesis, blood vessel morphogenesis, ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, viral entry into host cell, adherens junction organization, T cell costimulation, negative regulation of neuron projection development, negative regulation of keratinocyte proliferation, animal organ morphogenesis, anatomical structure morphogenesis, positive regulation of cell population proliferation, axon guidance, cell-cell signaling, cell adhesion, cell migration involved in sprouting angiogenesis, lymph vessel development, 6 15 16 30 19 3 3 3 5 ENSG00000125285 chr13 94709622 94712399 - SOX21 protein_coding SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004]. 11166 GO:0005575, GO:0000785, GO:0000785, cellular_component, chromatin, chromatin, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048863, GO:0045944, GO:0030154, GO:0009653, GO:0006357, GO:0006355, GO:0006355, GO:0001942, stem cell differentiation, positive regulation of transcription by RNA polymerase II, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, hair follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000125304 chr13 99446311 99564006 + TM9SF2 protein_coding This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]. 9375 GO:0150051, GO:0070062, GO:0016020, GO:0010008, GO:0005887, GO:0005856, GO:0005768, postsynaptic Golgi apparatus, extracellular exosome, membrane, endosome membrane, integral component of plasma membrane, cytoskeleton, endosome, GO:0072657, protein localization to membrane, 2480 2357 2613 767 1481 1148 948 1356 1162 ENSG00000125319 chr17 44141906 44162476 + C17orf53 protein_coding 78995 GO:0090734, GO:0005634, site of DNA damage, nucleus, GO:0005515, GO:0003697, protein binding, single-stranded DNA binding, GO:0048232, GO:0036297, GO:0007292, GO:0006974, GO:0000731, GO:0000725, male gamete generation, interstrand cross-link repair, female gamete generation, cellular response to DNA damage stimulus, DNA synthesis involved in DNA repair, recombinational repair, 4 10 17 4 9 25 2 3 5 ENSG00000125337 chr6 167996241 168045089 + KIF25 protein_coding The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. However, the particular function of this gene product has not yet been determined. Two alternatively spliced transcript variants which encode products have been described. Other splice variants have been found that lack exon 2 and the initiation codon for translation. [provided by RefSeq, Jul 2008]. 3834 GO:0005874, GO:0005871, GO:0005813, GO:0005737, microtubule, kinesin complex, centrosome, cytoplasm, GO:0016887, GO:0008569, GO:0008017, GO:0005524, GO:0003777, ATPase activity, ATP-dependent microtubule motor activity, minus-end-directed, microtubule binding, ATP binding, microtubule motor activity, GO:0051647, GO:0051294, GO:0051289, GO:0046603, GO:0010507, GO:0007018, GO:0006996, GO:0000070, nucleus localization, establishment of spindle orientation, protein homotetramerization, negative regulation of mitotic centrosome separation, negative regulation of autophagy, microtubule-based movement, organelle organization, mitotic sister chromatid segregation, 0 0 0 0 0 0 0 0 0 ENSG00000125347 chr5 132481609 132490798 - IRF1 protein_coding The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]. 3659 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, GO:0000785, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, chromatin, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000976, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000564, GO:0071260, GO:0060337, GO:0060333, GO:0060333, GO:0051726, GO:0051607, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045590, GO:0045088, GO:0043374, GO:0035458, GO:0034124, GO:0032735, GO:0032728, GO:0032481, GO:0008285, GO:0007596, GO:0007050, GO:0006915, GO:0006357, GO:0002819, GO:0002376, regulation of CD8-positive, alpha-beta T cell proliferation, cellular response to mechanical stimulus, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, regulation of cell cycle, defense response to virus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of regulatory T cell differentiation, regulation of innate immune response, CD8-positive, alpha-beta T cell differentiation, cellular response to interferon-beta, regulation of MyD88-dependent toll-like receptor signaling pathway, positive regulation of interleukin-12 production, positive regulation of interferon-beta production, positive regulation of type I interferon production, negative regulation of cell population proliferation, blood coagulation, cell cycle arrest, apoptotic process, regulation of transcription by RNA polymerase II, regulation of adaptive immune response, immune system process, 10526 6311 10899 7970 9187 12567 8778 7129 11714 ENSG00000125351 chrX 119805311 119852998 - UPF3B protein_coding This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 65109 GO:0035145, GO:0034451, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, exon-exon junction complex, centriolar satellite, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0017056, GO:0005515, GO:0003729, GO:0003729, GO:0003723, structural constituent of nuclear pore, protein binding, mRNA binding, mRNA binding, RNA binding, GO:0045727, GO:0045727, GO:0031124, GO:0006406, GO:0006405, GO:0000398, GO:0000184, GO:0000184, GO:0000184, GO:0000184, GO:0000184, positive regulation of translation, positive regulation of translation, mRNA 3'-end processing, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 92 98 147 109 117 134 85 67 87 ENSG00000125352 chrX 119870475 119871827 - RNF113A protein_coding This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]. 7737 GO:0071005, GO:0016607, GO:0005684, GO:0005654, GO:0005634, U2-type precatalytic spliceosome, nuclear speck, U2-type spliceosomal complex, nucleoplasm, nucleus, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0070100, GO:0034247, GO:0018276, GO:0016567, GO:0006281, GO:0000398, negative regulation of chemokine-mediated signaling pathway, snoRNA splicing, isopeptide cross-linking via N6-glycyl-L-lysine, protein ubiquitination, DNA repair, mRNA splicing, via spliceosome, 73 72 86 72 54 80 83 84 46 ENSG00000125354 chrX 119615724 119693370 - SEPT6 protein_coding This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]. 23157 GO:0097227, GO:0043679, GO:0032173, GO:0032154, GO:0032153, GO:0031105, GO:0031105, GO:0030496, GO:0015630, GO:0008021, GO:0005940, GO:0005819, GO:0000777, sperm annulus, axon terminus, septin collar, cleavage furrow, cell division site, septin complex, septin complex, midbody, microtubule cytoskeleton, synaptic vesicle, septin ring, spindle, condensed chromosome kinetochore, GO:0060090, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, GTP binding, protein binding, GTPase activity, GO:0061640, GO:0060271, GO:0034613, GO:0030154, GO:0016032, GO:0007283, GO:0000281, cytoskeleton-dependent cytokinesis, cilium assembly, cellular protein localization, cell differentiation, viral process, spermatogenesis, mitotic cytokinesis, 456 484 835 569 389 681 616 310 562 ENSG00000125355 chrX 120258650 120311556 - TMEM255A protein_coding 55026 GO:0016021, integral component of membrane, GO:0009617, response to bacterium, 1 2 1 0 0 2 0 1 1 ENSG00000125356 chrX 119871487 119876662 + NDUFA1 protein_coding The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the 'hydrophobic protein' (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]. 4694 GO:0031966, GO:0016021, GO:0005829, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial membrane, integral component of membrane, cytosol, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 281 241 308 235 276 255 170 311 173 ENSG00000125363 chrX 11293413 11300761 + AMELX protein_coding This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 265 GO:0062023, GO:0030139, GO:0009986, GO:0005794, GO:0005788, collagen-containing extracellular matrix, endocytic vesicle, cell surface, Golgi apparatus, endoplasmic reticulum lumen, GO:0046848, GO:0042802, GO:0030345, GO:0030345, GO:0008083, GO:0005515, hydroxyapatite binding, identical protein binding, structural constituent of tooth enamel, structural constituent of tooth enamel, growth factor activity, protein binding, GO:0070172, GO:0070166, GO:0051592, GO:0044267, GO:0043687, GO:0042493, GO:0042475, GO:0042127, GO:0034505, GO:0034505, GO:0032967, GO:0031214, GO:0007584, GO:0007165, GO:0007155, GO:0002062, GO:0001837, GO:0001649, positive regulation of tooth mineralization, enamel mineralization, response to calcium ion, cellular protein metabolic process, post-translational protein modification, response to drug, odontogenesis of dentin-containing tooth, regulation of cell population proliferation, tooth mineralization, tooth mineralization, positive regulation of collagen biosynthetic process, biomineral tissue development, response to nutrient, signal transduction, cell adhesion, chondrocyte differentiation, epithelial to mesenchymal transition, osteoblast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000125375 chr14 50312326 50335558 + ATP5S protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 27109 GO:0045263, GO:0005743, proton-transporting ATP synthase complex, coupling factor F(o), mitochondrial inner membrane, GO:0046872, GO:0015078, metal ion binding, proton transmembrane transporter activity, GO:1902600, GO:0042776, GO:0042407, GO:0006754, proton transmembrane transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP biosynthetic process, 56 65 68 49 30 82 94 40 48 ENSG00000125378 chr14 53949736 53958761 - BMP4 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]. 652 GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0070700, GO:0070700, GO:0042056, GO:0039706, GO:0008201, GO:0008083, GO:0005515, GO:0005125, GO:0005125, BMP receptor binding, BMP receptor binding, chemoattractant activity, co-receptor binding, heparin binding, growth factor activity, protein binding, cytokine activity, cytokine activity, GO:2001237, GO:2000137, GO:2000007, GO:2000005, GO:1905312, GO:1905072, GO:1903800, GO:1902894, GO:1902893, GO:1901964, GO:0090194, GO:0090191, GO:0090184, GO:0072205, GO:0072200, GO:0072198, GO:0072193, GO:0072192, GO:0072161, GO:0072138, GO:0072125, GO:0072104, GO:0072101, GO:0072097, GO:0072015, GO:0071893, GO:0071773, GO:0070374, GO:0070244, GO:0061626, GO:0061312, GO:0061155, GO:0061151, GO:0061149, GO:0061047, GO:0061036, GO:0060976, GO:0060687, GO:0060686, GO:0060684, GO:0060592, GO:0060548, GO:0060503, GO:0060502, GO:0060449, GO:0060442, GO:0060441, GO:0060440, GO:0060438, GO:0060433, GO:0060425, GO:0060395, GO:0060395, GO:0060393, GO:0060391, GO:0060363, GO:0060272, GO:0060235, GO:0060197, GO:0060113, GO:0055020, GO:0055007, GO:0051150, GO:0050918, GO:0050680, GO:0050679, GO:0048754, GO:0048745, GO:0048745, GO:0048701, GO:0048663, GO:0048661, GO:0048392, GO:0048286, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045843, GO:0045839, GO:0045786, GO:0045778, GO:0045669, GO:0045666, GO:0045662, GO:0045606, GO:0045603, GO:0044267, GO:0043687, GO:0043407, GO:0043401, GO:0043066, GO:0043066, GO:0043065, GO:0042733, GO:0042487, GO:0042476, GO:0042475, GO:0042326, GO:0042306, GO:0035993, GO:0035990, GO:0035116, GO:0034504, GO:0033088, GO:0033085, GO:0032967, GO:0032331, GO:0032092, GO:0030513, GO:0030509, GO:0030509, GO:0030501, GO:0030225, GO:0030224, GO:0030218, GO:0021983, GO:0021978, GO:0021904, GO:0021537, GO:0010942, GO:0010862, GO:0010862, GO:0010862, GO:0010718, GO:0010629, GO:0010628, GO:0010595, GO:0010453, GO:0010159, GO:0009948, GO:0009791, GO:0008285, GO:0008284, GO:0007500, GO:0007492, GO:0007281, GO:0007182, GO:0003337, GO:0003323, GO:0003279, GO:0003277, GO:0003215, GO:0003198, GO:0003197, GO:0003184, GO:0003180, GO:0003150, GO:0003149, GO:0003148, GO:0003139, GO:0003130, GO:0003014, GO:0002320, GO:0002244, GO:0002062, GO:0002043, GO:0001958, GO:0001938, GO:0001934, GO:0001843, GO:0001823, GO:0001822, GO:0001658, GO:0001657, GO:0001649, GO:0000186, GO:0000122, GO:0000122, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of cell proliferation involved in heart morphogenesis, negative regulation of metanephric comma-shaped body morphogenesis, negative regulation of metanephric S-shaped body morphogenesis, positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis, cardiac jelly development, positive regulation of production of miRNAs involved in gene silencing by miRNA, negative regulation of pri-miRNA transcription by RNA polymerase II, regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of cell proliferation involved in outflow tract morphogenesis, negative regulation of glomerulus development, negative regulation of branching involved in ureteric bud morphogenesis, positive regulation of kidney development, metanephric collecting duct development, negative regulation of mesenchymal cell proliferation involved in ureter development, mesenchymal cell proliferation involved in ureter development, ureter smooth muscle cell differentiation, ureter epithelial cell differentiation, mesenchymal cell differentiation involved in kidney development, mesenchymal cell proliferation involved in ureteric bud development, negative regulation of glomerular mesangial cell proliferation, glomerular capillary formation, specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway, negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway, glomerular visceral epithelial cell development, BMP signaling pathway involved in nephric duct formation, cellular response to BMP stimulus, positive regulation of ERK1 and ERK2 cascade, negative regulation of thymocyte apoptotic process, pharyngeal arch artery morphogenesis, BMP signaling pathway involved in heart development, pulmonary artery endothelial tube morphogenesis, BMP signaling pathway involved in renal system segmentation, BMP signaling pathway involved in ureter morphogenesis, positive regulation of branching involved in lung morphogenesis, positive regulation of cartilage development, coronary vasculature development, regulation of branching involved in prostate gland morphogenesis, negative regulation of prostatic bud formation, epithelial-mesenchymal cell signaling, mammary gland formation, negative regulation of cell death, bud dilation involved in lung branching, epithelial cell proliferation involved in lung morphogenesis, bud elongation involved in lung branching, branching involved in prostate gland morphogenesis, epithelial tube branching involved in lung morphogenesis, trachea formation, trachea development, bronchus development, lung morphogenesis, SMAD protein signal transduction, SMAD protein signal transduction, regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of SMAD protein signal transduction, cranial suture morphogenesis, embryonic skeletal joint morphogenesis, lens induction in camera-type eye, cloacal septation, inner ear receptor cell differentiation, positive regulation of cardiac muscle fiber development, cardiac muscle cell differentiation, regulation of smooth muscle cell differentiation, positive chemotaxis, negative regulation of epithelial cell proliferation, positive regulation of epithelial cell proliferation, branching morphogenesis of an epithelial tube, smooth muscle tissue development, smooth muscle tissue development, embryonic cranial skeleton morphogenesis, neuron fate commitment, positive regulation of smooth muscle cell proliferation, intermediate mesodermal cell differentiation, lung alveolus development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of striated muscle tissue development, negative regulation of mitotic nuclear division, negative regulation of cell cycle, positive regulation of ossification, positive regulation of osteoblast differentiation, positive regulation of neuron differentiation, negative regulation of myoblast differentiation, positive regulation of epidermal cell differentiation, positive regulation of endothelial cell differentiation, cellular protein metabolic process, post-translational protein modification, negative regulation of MAP kinase activity, steroid hormone mediated signaling pathway, negative regulation of apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, embryonic digit morphogenesis, regulation of odontogenesis of dentin-containing tooth, odontogenesis, odontogenesis of dentin-containing tooth, negative regulation of phosphorylation, regulation of protein import into nucleus, deltoid tuberosity development, tendon cell differentiation, embryonic hindlimb morphogenesis, protein localization to nucleus, negative regulation of immature T cell proliferation in thymus, negative regulation of T cell differentiation in thymus, positive regulation of collagen biosynthetic process, negative regulation of chondrocyte differentiation, positive regulation of protein binding, positive regulation of BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, macrophage differentiation, monocyte differentiation, erythrocyte differentiation, pituitary gland development, telencephalon regionalization, dorsal/ventral neural tube patterning, telencephalon development, positive regulation of cell death, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial to mesenchymal transition, negative regulation of gene expression, positive regulation of gene expression, positive regulation of endothelial cell migration, regulation of cell fate commitment, specification of animal organ position, anterior/posterior axis specification, post-embryonic development, negative regulation of cell population proliferation, positive regulation of cell population proliferation, mesodermal cell fate determination, endoderm development, germ cell development, common-partner SMAD protein phosphorylation, mesenchymal to epithelial transition involved in metanephros morphogenesis, type B pancreatic cell development, cardiac septum development, apoptotic process involved in endocardial cushion morphogenesis, cardiac right ventricle morphogenesis, epithelial to mesenchymal transition involved in endocardial cushion formation, endocardial cushion development, pulmonary valve morphogenesis, aortic valve morphogenesis, muscular septum morphogenesis, membranous septum morphogenesis, outflow tract septum morphogenesis, secondary heart field specification, BMP signaling pathway involved in heart induction, renal system process, lymphoid progenitor cell differentiation, hematopoietic progenitor cell differentiation, chondrocyte differentiation, blood vessel endothelial cell proliferation involved in sprouting angiogenesis, endochondral ossification, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, neural tube closure, mesonephros development, kidney development, branching involved in ureteric bud morphogenesis, ureteric bud development, osteoblast differentiation, activation of MAPKK activity, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000125384 chr14 52314305 52328606 + PTGER2 protein_coding This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]. 5732 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0004957, prostaglandin E receptor activity, GO:1904346, GO:0071380, GO:0071380, GO:0042127, GO:0032570, GO:0032496, GO:0007204, GO:0007189, GO:0007189, GO:0007186, GO:0006954, positive regulation of gastric mucosal blood circulation, cellular response to prostaglandin E stimulus, cellular response to prostaglandin E stimulus, regulation of cell population proliferation, response to progesterone, response to lipopolysaccharide, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, 21 7 60 136 52 152 105 49 98 ENSG00000125385 chr9 37046835 37047237 + AL161781.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000125386 chr4 2536631 2732565 + FAM193A protein_coding 8603 748 768 856 395 537 500 460 498 398 ENSG00000125388 chr4 2963608 3040747 + GRK4 protein_coding This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 2868 GO:0097381, GO:0043025, GO:0030425, GO:0005938, GO:0005829, photoreceptor disc membrane, neuronal cell body, dendrite, cell cortex, cytosol, GO:0050254, GO:0005524, GO:0004703, rhodopsin kinase activity, ATP binding, G protein-coupled receptor kinase activity, GO:0031623, GO:0022400, GO:0008277, GO:0007165, GO:0006468, GO:0002031, receptor internalization, regulation of rhodopsin mediated signaling pathway, regulation of G protein-coupled receptor signaling pathway, signal transduction, protein phosphorylation, G protein-coupled receptor internalization, 0 2 3 3 3 7 10 4 11 ENSG00000125398 chr17 72121020 72126420 + SOX9 protein_coding The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]. 6662 GO:0032991, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0097157, GO:0043565, GO:0043425, GO:0034236, GO:0008013, GO:0005515, GO:0003700, GO:0003700, GO:0003682, GO:0001228, GO:0000987, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, pre-mRNA intronic binding, sequence-specific DNA binding, bHLH transcription factor binding, protein kinase A catalytic subunit binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001054, GO:2000794, GO:2000741, GO:2000138, GO:2000020, GO:1904864, GO:1902894, GO:1902732, GO:1901203, GO:0098609, GO:0097065, GO:0090190, GO:0090184, GO:0090103, GO:0090090, GO:0072289, GO:0072197, GO:0072193, GO:0072190, GO:0072034, GO:0071773, GO:0071560, GO:0071504, GO:0071364, GO:0071347, GO:0071300, GO:0071260, GO:0070542, GO:0070384, GO:0070371, GO:0070168, GO:0070168, GO:0065003, GO:0061145, GO:0061138, GO:0061046, GO:0061036, GO:0060784, GO:0060729, GO:0060534, GO:0060532, GO:0060517, GO:0060487, GO:0060441, GO:0060221, GO:0060174, GO:0060041, GO:0060018, GO:0060009, GO:0060008, GO:0051216, GO:0050680, GO:0050679, GO:0050679, GO:0048709, GO:0046533, GO:0046322, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045732, GO:0045668, GO:0045662, GO:0043491, GO:0043066, GO:0043066, GO:0042981, GO:0042127, GO:0035622, GO:0035019, GO:0034504, GO:0032808, GO:0032332, GO:0032332, GO:0032332, GO:0032331, GO:0031018, GO:0030916, GO:0030903, GO:0030879, GO:0030858, GO:0030857, GO:0030850, GO:0030279, GO:0030279, GO:0030198, GO:0030155, GO:0019933, GO:0019100, GO:0014068, GO:0014036, GO:0014032, GO:0010634, GO:0010628, GO:0010564, GO:0008584, GO:0008584, GO:0008284, GO:0007507, GO:0007283, GO:0007219, GO:0007173, GO:0007165, GO:0007010, GO:0006367, GO:0006357, GO:0006338, GO:0006334, GO:0003430, GO:0003415, GO:0003413, GO:0003203, GO:0003188, GO:0003180, GO:0003179, GO:0003170, GO:0002683, GO:0002062, GO:0002062, GO:0002053, GO:0002009, GO:0001942, GO:0001934, GO:0001894, GO:0001837, GO:0001708, GO:0001658, GO:0001503, GO:0001502, GO:0001501, GO:0000122, GO:0000122, negative regulation of mesenchymal cell apoptotic process, regulation of epithelial cell proliferation involved in lung morphogenesis, positive regulation of mesenchymal stem cell differentiation, positive regulation of cell proliferation involved in heart morphogenesis, positive regulation of male gonad development, negative regulation of beta-catenin-TCF complex assembly, negative regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of chondrocyte proliferation, positive regulation of extracellular matrix assembly, cell-cell adhesion, anterior head development, positive regulation of branching involved in ureteric bud morphogenesis, positive regulation of kidney development, cochlea morphogenesis, negative regulation of canonical Wnt signaling pathway, metanephric nephron tubule formation, ureter morphogenesis, ureter smooth muscle cell differentiation, ureter urothelium development, renal vesicle induction, cellular response to BMP stimulus, cellular response to transforming growth factor beta stimulus, cellular response to heparin, cellular response to epidermal growth factor stimulus, cellular response to interleukin-1, cellular response to retinoic acid, cellular response to mechanical stimulus, response to fatty acid, Harderian gland development, ERK1 and ERK2 cascade, negative regulation of biomineral tissue development, negative regulation of biomineral tissue development, protein-containing complex assembly, lung smooth muscle development, morphogenesis of a branching epithelium, regulation of branching involved in lung morphogenesis, positive regulation of cartilage development, regulation of cell proliferation involved in tissue homeostasis, intestinal epithelial structure maintenance, trachea cartilage development, bronchus cartilage development, epithelial cell proliferation involved in prostatic bud elongation, lung epithelial cell differentiation, epithelial tube branching involved in lung morphogenesis, retinal rod cell differentiation, limb bud formation, retina development in camera-type eye, astrocyte fate commitment, Sertoli cell development, Sertoli cell differentiation, cartilage development, negative regulation of epithelial cell proliferation, positive regulation of epithelial cell proliferation, positive regulation of epithelial cell proliferation, oligodendrocyte differentiation, negative regulation of photoreceptor cell differentiation, negative regulation of fatty acid oxidation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of protein catabolic process, negative regulation of osteoblast differentiation, negative regulation of myoblast differentiation, protein kinase B signaling, negative regulation of apoptotic process, negative regulation of apoptotic process, regulation of apoptotic process, regulation of cell population proliferation, intrahepatic bile duct development, somatic stem cell population maintenance, protein localization to nucleus, lacrimal gland development, positive regulation of chondrocyte differentiation, positive regulation of chondrocyte differentiation, positive regulation of chondrocyte differentiation, negative regulation of chondrocyte differentiation, endocrine pancreas development, otic vesicle formation, notochord development, mammary gland development, positive regulation of epithelial cell differentiation, negative regulation of epithelial cell differentiation, prostate gland development, negative regulation of ossification, negative regulation of ossification, extracellular matrix organization, regulation of cell adhesion, cAMP-mediated signaling, male germ-line sex determination, positive regulation of phosphatidylinositol 3-kinase signaling, neural crest cell fate specification, neural crest cell development, positive regulation of epithelial cell migration, positive regulation of gene expression, regulation of cell cycle process, male gonad development, male gonad development, positive regulation of cell population proliferation, heart development, spermatogenesis, Notch signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, cytoskeleton organization, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, chromatin remodeling, nucleosome assembly, growth plate cartilage chondrocyte growth, chondrocyte hypertrophy, chondrocyte differentiation involved in endochondral bone morphogenesis, endocardial cushion morphogenesis, heart valve formation, aortic valve morphogenesis, heart valve morphogenesis, heart valve development, negative regulation of immune system process, chondrocyte differentiation, chondrocyte differentiation, positive regulation of mesenchymal cell proliferation, morphogenesis of an epithelium, hair follicle development, positive regulation of protein phosphorylation, tissue homeostasis, epithelial to mesenchymal transition, cell fate specification, branching involved in ureteric bud morphogenesis, ossification, cartilage condensation, skeletal system development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000125409 chr17 15303811 15341641 - TEKT3 protein_coding This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]. 64518 GO:0070062, GO:0036126, GO:0036126, GO:0015630, GO:0005634, GO:0002081, GO:0002080, extracellular exosome, sperm flagellum, sperm flagellum, microtubule cytoskeleton, nucleus, outer acrosomal membrane, acrosomal membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0060378, GO:0060294, GO:0060271, GO:0060271, GO:0030317, regulation of brood size, cilium movement involved in cell motility, cilium assembly, cilium assembly, flagellated sperm motility, 0 0 0 0 0 0 0 0 0 ENSG00000125414 chr17 10521148 10549957 - MYH2 protein_coding Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]. 4620 GO:0032991, GO:0032982, GO:0030017, GO:0030016, GO:0005911, GO:0005859, GO:0005859, GO:0005829, protein-containing complex, myosin filament, sarcomere, myofibril, cell-cell junction, muscle myosin complex, muscle myosin complex, cytosol, GO:0051015, GO:0005524, GO:0005516, GO:0005515, GO:0000146, actin filament binding, ATP binding, calmodulin binding, protein binding, microfilament motor activity, GO:0038096, GO:0030049, GO:0006936, GO:0006936, Fc-gamma receptor signaling pathway involved in phagocytosis, muscle filament sliding, muscle contraction, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000125430 chr17 14301083 14349404 + HS3ST3B1 protein_coding The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 9953 GO:0005887, GO:0000139, integral component of plasma membrane, Golgi membrane, GO:0033872, GO:0008467, [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, GO:0015015, GO:0015012, GO:0006477, GO:0006024, heparan sulfate proteoglycan biosynthetic process, enzymatic modification, heparan sulfate proteoglycan biosynthetic process, protein sulfation, glycosaminoglycan biosynthetic process, 34 110 54 64 50 37 21 60 50 ENSG00000125434 chr17 8287763 8295343 - SLC25A35 protein_coding SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]. 399512 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, 24 29 25 36 55 86 36 21 56 ENSG00000125445 chr17 75261674 75266373 + MRPS7 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]. 51081 GO:0005840, GO:0005763, GO:0005763, GO:0005763, GO:0005743, ribosome, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, GO:0019843, GO:0003735, GO:0003735, GO:0003729, GO:0003723, rRNA binding, structural constituent of ribosome, structural constituent of ribosome, mRNA binding, RNA binding, GO:0070126, GO:0070125, GO:0032543, GO:0006412, GO:0000028, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, ribosomal small subunit assembly, 24 21 30 31 37 60 33 25 17 ENSG00000125447 chr17 75236599 75262363 - GGA3 protein_coding This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]. 23163 GO:0055038, GO:0031901, GO:0010008, GO:0005802, GO:0005794, recycling endosome membrane, early endosome membrane, endosome membrane, trans-Golgi network, Golgi apparatus, GO:0043130, GO:0031267, GO:0005515, ubiquitin binding, small GTPase binding, protein binding, GO:1902430, GO:0061462, GO:0045732, GO:0044267, GO:0043001, GO:0034394, GO:0031648, GO:0031647, GO:0006886, negative regulation of amyloid-beta formation, protein localization to lysosome, positive regulation of protein catabolic process, cellular protein metabolic process, Golgi to plasma membrane protein transport, protein localization to cell surface, protein destabilization, regulation of protein stability, intracellular protein transport, 838 944 1031 838 956 807 766 733 663 ENSG00000125449 chr17 75109952 75130265 + ARMC7 protein_coding 79637 GO:0005515, protein binding, 80 86 97 102 139 63 79 112 93 ENSG00000125450 chr17 75205659 75235758 + NUP85 protein_coding This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 79902 GO:0043657, GO:0031965, GO:0031080, GO:0031080, GO:0031080, GO:0016020, GO:0005829, GO:0005829, GO:0005819, GO:0005654, GO:0005635, GO:0000777, GO:0000776, host cell, nuclear membrane, nuclear pore outer ring, nuclear pore outer ring, nuclear pore outer ring, membrane, cytosol, cytosol, spindle, nucleoplasm, nuclear envelope, condensed chromosome kinetochore, kinetochore, GO:0017056, GO:0005515, structural constituent of nuclear pore, protein binding, GO:1900034, GO:0075733, GO:0072006, GO:0060964, GO:0048246, GO:0045893, GO:0030032, GO:0019083, GO:0016925, GO:0016032, GO:0006606, GO:0006409, GO:0006406, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, nephron development, regulation of gene silencing by miRNA, macrophage chemotaxis, positive regulation of transcription, DNA-templated, lamellipodium assembly, viral transcription, protein sumoylation, viral process, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 164 172 172 246 246 257 296 191 195 ENSG00000125454 chr17 75272981 75289510 - SLC25A19 protein_coding This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]. 60386 GO:0031305, GO:0005743, GO:0005634, integral component of mitochondrial inner membrane, mitochondrial inner membrane, nucleus, GO:0090422, GO:0030233, GO:0015234, GO:0005347, thiamine pyrophosphate transmembrane transporter activity, deoxynucleotide transmembrane transporter activity, thiamine transmembrane transporter activity, ATP transmembrane transporter activity, GO:0071934, GO:0042723, GO:0030974, GO:0030302, GO:0015867, thiamine transmembrane transport, thiamine-containing compound metabolic process, thiamine pyrophosphate transmembrane transport, deoxynucleotide transport, ATP transport, 15 25 36 59 26 74 56 21 59 ENSG00000125457 chr17 75266228 75271227 - MIF4GD protein_coding This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3' end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]. 57409 GO:0005829, GO:0005829, GO:0005794, GO:0005730, cytosol, cytosol, Golgi apparatus, nucleolus, GO:0042802, GO:0008494, GO:0008022, GO:0005515, GO:0003723, identical protein binding, translation activator activity, protein C-terminus binding, protein binding, RNA binding, GO:0045727, GO:0006446, positive regulation of translation, regulation of translational initiation, 25 51 35 20 36 69 55 34 32 ENSG00000125458 chr17 75130225 75131795 - NT5C protein_coding This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]. 30833 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytosol, cytoplasm, nucleus, GO:0046872, GO:0042802, GO:0019103, GO:0008253, GO:0008252, metal ion binding, identical protein binding, pyrimidine nucleotide binding, 5'-nucleotidase activity, nucleotidase activity, GO:0046135, GO:0016311, GO:0009223, GO:0009223, GO:0006195, pyrimidine nucleoside catabolic process, dephosphorylation, pyrimidine deoxyribonucleotide catabolic process, pyrimidine deoxyribonucleotide catabolic process, purine nucleotide catabolic process, 63 86 69 90 129 137 67 101 116 ENSG00000125459 chr1 155610205 155614967 + MSTO1 protein_coding 55154 GO:0005741, GO:0005737, GO:0005737, mitochondrial outer membrane, cytoplasm, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0048311, GO:0048311, GO:0007005, mitochondrion distribution, mitochondrion distribution, mitochondrion organization, 20 23 22 35 29 71 39 20 39 ENSG00000125462 chr1 156404250 156430701 - C1orf61 protein_coding 10485 GO:0005634, nucleus, GO:0003674, molecular_function, GO:0045944, positive regulation of transcription by RNA polymerase II, 3 8 16 11 0 61 9 6 40 ENSG00000125482 chr9 132375548 132406851 - TTF1 protein_coding This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011]. 7270 GO:0005886, GO:0005829, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, plasma membrane, cytosol, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0003682, GO:0003677, chromatin binding, DNA binding, GO:0044267, GO:0008156, GO:0006363, GO:0006363, GO:0006353, cellular protein metabolic process, negative regulation of DNA replication, termination of RNA polymerase I transcription, termination of RNA polymerase I transcription, DNA-templated transcription, termination, 331 339 293 140 221 217 139 200 143 ENSG00000125484 chr9 132670035 132694955 + GTF3C4 protein_coding 9329 GO:0005739, GO:0005654, GO:0005654, GO:0000127, GO:0000127, mitochondrion, nucleoplasm, nucleoplasm, transcription factor TFIIIC complex, transcription factor TFIIIC complex, GO:0008047, GO:0005515, GO:0004402, GO:0003677, enzyme activator activity, protein binding, histone acetyltransferase activity, DNA binding, GO:0043085, GO:0042797, GO:0042791, GO:0016573, GO:0006384, GO:0006383, positive regulation of catalytic activity, tRNA transcription by RNA polymerase III, 5S class rRNA transcription by RNA polymerase III, histone acetylation, transcription initiation from RNA polymerase III promoter, transcription by RNA polymerase III, 31 43 79 23 30 20 20 23 21 ENSG00000125485 chr9 132592997 132670401 - DDX31 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]. 64794 GO:0043231, GO:0005794, GO:0005730, GO:0005634, intracellular membrane-bounded organelle, Golgi apparatus, nucleolus, nucleus, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, GO:0042254, GO:0042254, ribosome biogenesis, ribosome biogenesis, 7 8 22 14 9 24 25 4 22 ENSG00000125492 chr9 132582185 132590266 + BARHL1 protein_coding 56751 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0043524, GO:0030901, GO:0007605, GO:0006357, GO:0001764, positive regulation of transcription by RNA polymerase II, negative regulation of neuron apoptotic process, midbrain development, sensory perception of sound, regulation of transcription by RNA polymerase II, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000125498 chr19 54769811 54784322 + KIR2DL1 protein_coding Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]. 3802 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0050776, GO:0006955, GO:0002769, regulation of immune response, immune response, natural killer cell inhibitory signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000125503 chr19 55090913 55117559 - PPP1R12C protein_coding The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]. 54776 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0019901, GO:0019208, GO:0005515, GO:0004857, protein kinase binding, phosphatase regulator activity, protein binding, enzyme inhibitor activity, GO:0043086, GO:0007165, negative regulation of catalytic activity, signal transduction, 1556 1424 1847 1571 1848 1606 1458 1403 1378 ENSG00000125505 chr19 54173412 54189882 - MBOAT7 protein_coding This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. 79143 GO:0044233, GO:0044233, GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005783, mitochondria-associated endoplasmic reticulum membrane, mitochondria-associated endoplasmic reticulum membrane, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0071617, GO:0071617, GO:0047144, GO:0016746, GO:0008374, GO:0008374, GO:0008374, GO:0005515, GO:0003841, lysophospholipid acyltransferase activity, lysophospholipid acyltransferase activity, 2-acylglycerol-3-phosphate O-acyltransferase activity, transferase activity, transferring acyl groups, O-acyltransferase activity, O-acyltransferase activity, O-acyltransferase activity, protein binding, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0090207, GO:0090207, GO:0036151, GO:0036149, GO:0036149, GO:0036149, GO:0030258, GO:0021819, GO:0021591, GO:0006661, GO:0006661, regulation of triglyceride metabolic process, regulation of triglyceride metabolic process, phosphatidylcholine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, lipid modification, layer formation in cerebral cortex, ventricular system development, phosphatidylinositol biosynthetic process, phosphatidylinositol biosynthetic process, 511 746 990 124 388 340 206 290 331 ENSG00000125508 chr20 63540810 63547504 - SRMS protein_coding 6725 GO:0031234, GO:0005829, GO:0005737, extrinsic component of cytoplasmic side of plasma membrane, cytosol, cytoplasm, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004713, GO:0004713, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0045087, GO:0042127, GO:0038083, GO:0038083, GO:0030154, GO:0018108, GO:0009968, GO:0007169, innate immune response, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, peptidyl-tyrosine autophosphorylation, cell differentiation, peptidyl-tyrosine phosphorylation, negative regulation of signal transduction, transmembrane receptor protein tyrosine kinase signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000125510 chr20 64080173 64100643 + OPRL1 protein_coding The protein encoded by this gene is a member of the 7 transmembrane-spanning G protein-coupled receptor family, and functions as a receptor for the endogenous, opioid-related neuropeptide, nociceptin/orphanin FQ. This receptor-ligand system modulates a variety of biological functions and neurobehavior, including stress responses and anxiety behavior, learning and memory, locomotor activity, and inflammatory and immune responses. A promoter region between this gene and the 5'-adjacent RGS19 (regulator of G-protein signaling 19) gene on the opposite strand functions bi-directionally as a core-promoter for both genes, suggesting co-operative transcriptional regulation of these two functionally related genes. Alternatively spliced transcript variants have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. 4987 GO:0043005, GO:0031410, GO:0005887, GO:0005887, GO:0005886, neuron projection, cytoplasmic vesicle, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042923, GO:0042277, GO:0008022, GO:0005515, GO:0004930, GO:0004930, GO:0004930, GO:0001626, GO:0001626, neuropeptide binding, peptide binding, protein C-terminus binding, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, nociceptin receptor activity, nociceptin receptor activity, GO:1990708, GO:1904059, GO:1904058, GO:1901386, GO:0106072, GO:0060454, GO:0051482, GO:0045776, GO:0044849, GO:0042755, GO:0038003, GO:0035810, GO:0032355, GO:0019233, GO:0019233, GO:0007600, GO:0007218, GO:0007193, GO:0007186, conditioned place preference, regulation of locomotor rhythm, positive regulation of sensory perception of pain, negative regulation of voltage-gated calcium channel activity, negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, positive regulation of gastric acid secretion, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, negative regulation of blood pressure, estrous cycle, eating behavior, opioid receptor signaling pathway, positive regulation of urine volume, response to estradiol, sensory perception of pain, sensory perception of pain, sensory perception, neuropeptide signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 23 45 57 10 27 17 21 20 33 ENSG00000125514 chr20 63034217 63037028 - LINC00029 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000125520 chr20 63739861 63743505 + SLC2A4RG protein_coding The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq, Jul 2008]. 56731 GO:0016607, GO:0005737, GO:0005634, GO:0005634, nuclear speck, cytoplasm, nucleus, nucleus, GO:0046872, GO:0003700, GO:0003700, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 117 140 176 190 142 231 175 123 162 ENSG00000125522 chr20 64105820 64107171 - NPBWR2 protein_coding The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor. The encoded protein is similar in sequence to another G protein-coupled receptor (GPR7), and it is structurally similar to opioid and somatostatin receptors. This protein binds neuropeptides B and W. This gene is intronless and is expressed primarily in the frontal cortex of the brain. [provided by RefSeq, Jul 2008]. 2832 GO:0043005, GO:0016021, GO:0005887, GO:0005886, neuron projection, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0042923, GO:0042277, GO:0008188, GO:0005515, GO:0004985, GO:0004930, neuropeptide binding, peptide binding, neuropeptide receptor activity, protein binding, opioid receptor activity, G protein-coupled receptor activity, GO:0038003, GO:0007218, GO:0007186, GO:0007186, opioid receptor signaling pathway, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000125531 chr20 63547891 63556708 + FNDC11 protein_coding 79025 GO:0005515, protein binding, 4 4 11 6 7 9 12 3 9 ENSG00000125533 chr20 63005927 63007035 - BHLHE23 protein_coding This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013]. 128408 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048468, GO:0030182, GO:0006357, cell development, neuron differentiation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000125534 chr20 63520724 63522206 + PPDPF protein_coding 79144 GO:0030154, GO:0007275, cell differentiation, multicellular organism development, 24 38 77 104 51 152 102 42 111 ENSG00000125538 chr2 112829751 112836903 - IL1B protein_coding The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. Similarly, IL-1B has been implicated in human osteoarthritis pathogenesis. Patients with severe Coronavirus Disease 2019 (COVID-19) present elevated levels of pro-inflammatory cytokines such as IL-1B in bronchial alveolar lavage fluid samples. The lung damage induced by the Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the inflammatory response promoted by cytokines such as IL-1B. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2020]. 3553 GO:0030141, GO:0005829, GO:0005764, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, secretory granule, cytosol, lysosome, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0019904, GO:0005515, GO:0005178, GO:0005149, GO:0005125, GO:0005125, GO:0005125, protein domain specific binding, protein binding, integrin binding, interleukin-1 receptor binding, cytokine activity, cytokine activity, cytokine activity, GO:2001240, GO:2000556, GO:1903597, GO:1903140, GO:1902680, GO:1901224, GO:1900745, GO:0150078, GO:0097192, GO:0071639, GO:0071407, GO:0071310, GO:0071260, GO:0071222, GO:0070555, GO:0070498, GO:0070498, GO:0070487, GO:0070372, GO:0070164, GO:0060559, GO:0060355, GO:0060252, GO:0051781, GO:0051092, GO:0051091, GO:0051044, GO:0050999, GO:0050999, GO:0050996, GO:0050995, GO:0050805, GO:0050796, GO:0050768, GO:0050767, GO:0050766, GO:0050729, GO:0050691, GO:0048143, GO:0046827, GO:0046627, GO:0046330, GO:0045944, GO:0045917, GO:0045893, GO:0045840, GO:0045833, GO:0045766, GO:0045766, GO:0045429, GO:0043491, GO:0043407, GO:0043123, GO:0043122, GO:0042102, GO:0035690, GO:0035505, GO:0035234, GO:0035066, GO:0034116, GO:0034116, GO:0033198, GO:0033129, GO:0033092, GO:0032757, GO:0032755, GO:0032755, GO:0032743, GO:0032729, GO:0032725, GO:0032635, GO:0032496, GO:0032308, GO:0031663, GO:0031622, GO:0031394, GO:0030949, GO:0030730, GO:0030593, GO:0030335, GO:0030213, GO:0019221, GO:0019221, GO:0019221, GO:0014805, GO:0010829, GO:0010718, GO:0010628, GO:0010628, GO:0010628, GO:0010575, GO:0010575, GO:0010573, GO:0009743, GO:0008285, GO:0008284, GO:0007566, GO:0007267, GO:0007165, GO:0006955, GO:0006954, GO:0006954, GO:0006954, GO:0006954, GO:0006915, GO:0002711, GO:0001934, GO:0001934, GO:0001660, GO:0000187, GO:0000165, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of T-helper 1 cell cytokine production, negative regulation of gap junction assembly, regulation of establishment of endothelial barrier, positive regulation of RNA biosynthetic process, positive regulation of NIK/NF-kappaB signaling, positive regulation of p38MAPK cascade, positive regulation of neuroinflammatory response, extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of monocyte chemotactic protein-1 production, cellular response to organic cyclic compound, cellular response to organic substance, cellular response to mechanical stimulus, cellular response to lipopolysaccharide, response to interleukin-1, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, monocyte aggregation, regulation of ERK1 and ERK2 cascade, negative regulation of adiponectin secretion, positive regulation of calcidiol 1-monooxygenase activity, positive regulation of cell adhesion molecule production, positive regulation of glial cell proliferation, positive regulation of cell division, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of membrane protein ectodomain proteolysis, regulation of nitric-oxide synthase activity, regulation of nitric-oxide synthase activity, positive regulation of lipid catabolic process, negative regulation of lipid catabolic process, negative regulation of synaptic transmission, regulation of insulin secretion, negative regulation of neurogenesis, regulation of neurogenesis, positive regulation of phagocytosis, positive regulation of inflammatory response, regulation of defense response to virus by host, astrocyte activation, positive regulation of protein export from nucleus, negative regulation of insulin receptor signaling pathway, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of complement activation, positive regulation of transcription, DNA-templated, positive regulation of mitotic nuclear division, negative regulation of lipid metabolic process, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of nitric oxide biosynthetic process, protein kinase B signaling, negative regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of T cell proliferation, cellular response to drug, positive regulation of myosin light chain kinase activity, ectopic germ cell programmed cell death, positive regulation of histone acetylation, positive regulation of heterotypic cell-cell adhesion, positive regulation of heterotypic cell-cell adhesion, response to ATP, positive regulation of histone phosphorylation, positive regulation of immature T cell proliferation in thymus, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interleukin-2 production, positive regulation of interferon-gamma production, positive regulation of granulocyte macrophage colony-stimulating factor production, interleukin-6 production, response to lipopolysaccharide, positive regulation of prostaglandin secretion, lipopolysaccharide-mediated signaling pathway, positive regulation of fever generation, positive regulation of prostaglandin biosynthetic process, positive regulation of vascular endothelial growth factor receptor signaling pathway, sequestering of triglyceride, neutrophil chemotaxis, positive regulation of cell migration, hyaluronan biosynthetic process, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, smooth muscle adaptation, negative regulation of glucose transmembrane transport, positive regulation of epithelial to mesenchymal transition, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of vascular endothelial growth factor production, positive regulation of vascular endothelial growth factor production, vascular endothelial growth factor production, response to carbohydrate, negative regulation of cell population proliferation, positive regulation of cell population proliferation, embryo implantation, cell-cell signaling, signal transduction, immune response, inflammatory response, inflammatory response, inflammatory response, inflammatory response, apoptotic process, positive regulation of T cell mediated immunity, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, fever generation, activation of MAPK activity, MAPK cascade, 1933 2341 4390 674 1026 2053 1284 1341 2323 ENSG00000125551 chr2 87748087 87758793 + PLGLB2 protein_coding 5342 GO:0005576, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 11 9 8 11 15 10 8 11 14 ENSG00000125571 chr2 112912971 112918882 + IL37 protein_coding The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 27178 GO:0043231, GO:0005829, GO:0005654, GO:0005654, GO:0005654, GO:0005615, GO:0005576, GO:0005576, intracellular membrane-bounded organelle, cytosol, nucleoplasm, nucleoplasm, nucleoplasm, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005149, GO:0005149, GO:0005125, protein binding, interleukin-1 receptor binding, interleukin-1 receptor binding, cytokine activity, GO:0071345, GO:0071222, GO:0050727, GO:0032720, GO:0032715, GO:0019221, GO:0010628, GO:0006955, GO:0006954, GO:0002437, cellular response to cytokine stimulus, cellular response to lipopolysaccharide, regulation of inflammatory response, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, cytokine-mediated signaling pathway, positive regulation of gene expression, immune response, inflammatory response, inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000125611 chr2 112584240 112589275 + CHCHD5 protein_coding 84269 GO:0005758, GO:0005739, mitochondrial intermembrane space, mitochondrion, GO:0005515, protein binding, GO:0008150, biological_process, 49 39 43 21 44 30 19 56 44 ENSG00000125618 chr2 113215997 113278950 - PAX8 protein_coding This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]. 7849 GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0004996, GO:0003700, GO:0003677, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein binding, thyroid-stimulating hormone receptor activity, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000612, GO:2000611, GO:2000594, GO:1900218, GO:1900215, GO:1900212, GO:0090190, GO:0072307, GO:0072305, GO:0072289, GO:0072284, GO:0072278, GO:0072221, GO:0072207, GO:0072108, GO:0071599, GO:0071371, GO:0048856, GO:0048793, GO:0045944, GO:0045893, GO:0045893, GO:0042981, GO:0042472, GO:0039003, GO:0038194, GO:0030878, GO:0030878, GO:0010667, GO:0009653, GO:0007417, GO:0006790, GO:0006357, GO:0006351, GO:0003337, GO:0003281, GO:0001823, GO:0001822, GO:0001658, GO:0001655, regulation of thyroid-stimulating hormone secretion, positive regulation of thyroid hormone generation, positive regulation of metanephric DCT cell differentiation, negative regulation of apoptotic process involved in metanephric nephron tubule development, negative regulation of apoptotic process involved in metanephric collecting duct development, negative regulation of mesenchymal cell apoptotic process involved in metanephros development, positive regulation of branching involved in ureteric bud morphogenesis, regulation of metanephric nephron tubule epithelial cell differentiation, negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis, metanephric nephron tubule formation, metanephric S-shaped body morphogenesis, metanephric comma-shaped body morphogenesis, metanephric distal convoluted tubule development, metanephric epithelium development, positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis, otic vesicle development, cellular response to gonadotropin stimulus, anatomical structure development, pronephros development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of apoptotic process, inner ear morphogenesis, pronephric field specification, thyroid-stimulating hormone signaling pathway, thyroid gland development, thyroid gland development, negative regulation of cardiac muscle cell apoptotic process, anatomical structure morphogenesis, central nervous system development, sulfur compound metabolic process, regulation of transcription by RNA polymerase II, transcription, DNA-templated, mesenchymal to epithelial transition involved in metanephros morphogenesis, ventricular septum development, mesonephros development, kidney development, branching involved in ureteric bud morphogenesis, urogenital system development, 8 2 50 6 2 22 8 6 6 ENSG00000125629 chr2 118088452 118110997 + INSIG2 protein_coding The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]. 51141 GO:0032937, GO:0032937, GO:0005789, GO:0005783, GO:0005783, SREBP-SCAP-Insig complex, SREBP-SCAP-Insig complex, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0008142, GO:0008134, GO:0005515, oxysterol binding, transcription factor binding, protein binding, GO:0070542, GO:0060363, GO:0060021, GO:0045717, GO:0042474, GO:0042472, GO:0036316, GO:0036316, GO:0032933, GO:0032933, GO:0032869, GO:0016126, GO:0010894, GO:0006695, GO:0006695, GO:0006641, response to fatty acid, cranial suture morphogenesis, roof of mouth development, negative regulation of fatty acid biosynthetic process, middle ear morphogenesis, inner ear morphogenesis, SREBP-SCAP complex retention in endoplasmic reticulum, SREBP-SCAP complex retention in endoplasmic reticulum, SREBP signaling pathway, SREBP signaling pathway, cellular response to insulin stimulus, sterol biosynthetic process, negative regulation of steroid biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, triglyceride metabolic process, 88 65 83 72 93 90 48 72 80 ENSG00000125630 chr2 112541915 112577150 + POLR1B protein_coding Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]. 84172 GO:0005829, GO:0005736, GO:0005730, GO:0005654, cytosol, RNA polymerase I complex, nucleolus, nucleoplasm, GO:0046872, GO:0032549, GO:0005515, GO:0003899, GO:0003677, metal ion binding, ribonucleoside binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0045815, GO:0017126, GO:0009303, GO:0007566, GO:0006363, GO:0006362, GO:0006361, positive regulation of gene expression, epigenetic, nucleologenesis, rRNA transcription, embryo implantation, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, 16 12 29 57 36 40 33 18 15 ENSG00000125631 chr2 117859427 117934942 + HTR5BP transcribed_unprocessed_pseudogene 25 23 33 26 41 38 47 29 52 ENSG00000125633 chr2 117915478 118014133 - CCDC93 protein_coding 54520 GO:0043231, GO:0005769, intracellular membrane-bounded organelle, early endosome, GO:0005515, protein binding, GO:1990126, GO:0032456, GO:0015031, GO:0006893, GO:0006893, retrograde transport, endosome to plasma membrane, endocytic recycling, protein transport, Golgi to plasma membrane transport, Golgi to plasma membrane transport, 575 640 851 658 855 960 795 560 726 ENSG00000125637 chr2 113157325 113209396 + PSD4 protein_coding 23550 GO:0032587, GO:0032587, GO:0032154, GO:0016020, ruffle membrane, ruffle membrane, cleavage furrow, membrane, GO:0005543, GO:0005085, phospholipid binding, guanyl-nucleotide exchange factor activity, GO:0032012, regulation of ARF protein signal transduction, 3086 3605 3560 2638 3539 3481 2886 2424 2739 ENSG00000125648 chr19 6436079 6465203 - SLC25A23 protein_coding 79085 GO:0016021, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, GO:0005509, GO:0005347, protein binding, calcium ion binding, ATP transmembrane transporter activity, GO:1900069, GO:0097274, GO:0071277, GO:0051561, GO:0051282, GO:0043457, GO:0036444, GO:0015867, GO:0006851, GO:0002082, regulation of cellular hyperosmotic salinity response, urea homeostasis, cellular response to calcium ion, positive regulation of mitochondrial calcium ion concentration, regulation of sequestering of calcium ion, regulation of cellular respiration, calcium import into the mitochondrion, ATP transport, mitochondrial calcium ion transmembrane transport, regulation of oxidative phosphorylation, 3 8 19 21 14 34 21 21 27 ENSG00000125650 chr19 6375148 6379058 - PSPN protein_coding This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016]. 5623 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0030971, GO:0030116, GO:0008083, GO:0005102, receptor tyrosine kinase binding, glial cell-derived neurotrophic factor receptor binding, growth factor activity, signaling receptor binding, GO:0007417, GO:0007411, GO:0007399, GO:0000165, central nervous system development, axon guidance, nervous system development, MAPK cascade, 17 26 16 42 50 40 17 7 38 ENSG00000125651 chr19 6379569 6393981 - GTF2F1 protein_coding 2962 GO:0043231, GO:0032991, GO:0030054, GO:0005674, GO:0005669, GO:0005654, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, protein-containing complex, cell junction, transcription factor TFIIF complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, GO:1990841, GO:0019904, GO:0019903, GO:0019211, GO:0016251, GO:0016251, GO:0008134, GO:0005515, GO:0003723, GO:0003677, GO:0001096, promoter-specific chromatin binding, protein domain specific binding, protein phosphatase binding, phosphatase activator activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, transcription factor binding, protein binding, RNA binding, DNA binding, TFIIF-class transcription factor complex binding, GO:0050434, GO:0045944, GO:0045944, GO:0043085, GO:0042795, GO:0032968, GO:0032091, GO:0016070, GO:0009615, GO:0008543, GO:0006370, GO:0006368, GO:0006368, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0000398, positive regulation of viral transcription, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of catalytic activity, snRNA transcription by RNA polymerase II, positive regulation of transcription elongation from RNA polymerase II promoter, negative regulation of protein binding, RNA metabolic process, response to virus, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, mRNA splicing, via spliceosome, 1017 975 1254 1378 1418 1693 1093 913 1078 ENSG00000125652 chr19 6372433 6375251 + ALKBH7 protein_coding 84266 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0051213, GO:0046872, GO:0005515, dioxygenase activity, metal ion binding, protein binding, GO:1902445, GO:0055114, GO:0010883, GO:0006974, GO:0006631, regulation of mitochondrial membrane permeability involved in programmed necrotic cell death, oxidation-reduction process, regulation of lipid storage, cellular response to DNA damage stimulus, fatty acid metabolic process, 126 92 108 113 85 83 54 74 52 ENSG00000125656 chr19 6361452 6368910 + CLPP protein_coding The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]. 8192 GO:0009368, GO:0009368, GO:0005759, GO:0005739, endopeptidase Clp complex, endopeptidase Clp complex, mitochondrial matrix, mitochondrion, GO:0051117, GO:0042802, GO:0008233, GO:0005515, GO:0004252, GO:0004252, GO:0004176, GO:0004175, ATPase binding, identical protein binding, peptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, ATP-dependent peptidase activity, endopeptidase activity, GO:0051603, GO:0033619, GO:0006515, proteolysis involved in cellular protein catabolic process, membrane protein proteolysis, protein quality control for misfolded or incompletely synthesized proteins, 81 100 100 80 95 77 88 112 72 ENSG00000125657 chr19 6530999 6535928 + TNFSF9 protein_coding The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]. 8744 GO:0016021, GO:0005886, GO:0005886, GO:0005615, integral component of membrane, plasma membrane, plasma membrane, extracellular space, GO:0032813, GO:0005164, GO:0005125, GO:0005102, tumor necrosis factor receptor superfamily binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:0045585, GO:0042981, GO:0042129, GO:0042104, GO:0033209, GO:0007267, GO:0006955, positive regulation of cytotoxic T cell differentiation, regulation of apoptotic process, regulation of T cell proliferation, positive regulation of activated T cell proliferation, tumor necrosis factor-mediated signaling pathway, cell-cell signaling, immune response, 4 1 10 39 12 26 32 9 29 ENSG00000125675 chrX 123184153 123490915 + GRIA3 protein_coding Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]. 2892 GO:0045211, GO:0043197, GO:0032281, GO:0032281, GO:0030666, GO:0005886, GO:0005886, postsynaptic membrane, dendritic spine, AMPA glutamate receptor complex, AMPA glutamate receptor complex, endocytic vesicle membrane, plasma membrane, plasma membrane, GO:0038023, GO:0015276, GO:0004971, GO:0004971, GO:0001540, signaling receptor activity, ligand-gated ion channel activity, AMPA glutamate receptor activity, AMPA glutamate receptor activity, amyloid-beta binding, GO:2000310, GO:0060078, GO:0035235, GO:0034220, GO:0007215, regulation of NMDA receptor activity, regulation of postsynaptic membrane potential, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, glutamate receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000125676 chrX 123600561 123733056 - THOC2 protein_coding The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]. 57187 GO:0016607, GO:0005654, GO:0000781, GO:0000445, GO:0000445, GO:0000347, GO:0000346, nuclear speck, nucleoplasm, chromosome, telomeric region, THO complex part of transcription export complex, THO complex part of transcription export complex, THO complex, transcription export complex, GO:0005515, GO:0003729, protein binding, mRNA binding, GO:0048699, GO:0048666, GO:0046784, GO:0031124, GO:0017145, GO:0016973, GO:0010793, GO:0008380, GO:0006406, GO:0006406, GO:0006406, GO:0006405, GO:0001824, GO:0000902, generation of neurons, neuron development, viral mRNA export from host cell nucleus, mRNA 3'-end processing, stem cell division, poly(A)+ mRNA export from nucleus, regulation of mRNA export from nucleus, RNA splicing, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, blastocyst development, cell morphogenesis, 288 366 432 355 298 312 323 240 275 ENSG00000125686 chr17 39404285 39451286 - MED1 protein_coding The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]. 5469 GO:0032993, GO:0016592, GO:0016592, GO:0016592, GO:0016020, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000151, protein-DNA complex, mediator complex, mediator complex, mediator complex, membrane, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, ubiquitin ligase complex, GO:1990841, GO:0061630, GO:0050693, GO:0046966, GO:0046966, GO:0046966, GO:0042975, GO:0042974, GO:0042974, GO:0042809, GO:0042809, GO:0042809, GO:0042809, GO:0036033, GO:0035257, GO:0031490, GO:0030375, GO:0030375, GO:0030374, GO:0030374, GO:0030331, GO:0016922, GO:0016922, GO:0008134, GO:0005515, GO:0003714, GO:0003713, GO:0003713, GO:0003712, GO:0003712, GO:0003682, GO:0000978, promoter-specific chromatin binding, ubiquitin protein ligase activity, LBD domain binding, thyroid hormone receptor binding, thyroid hormone receptor binding, thyroid hormone receptor binding, peroxisome proliferator activated receptor binding, retinoic acid receptor binding, retinoic acid receptor binding, vitamin D receptor binding, vitamin D receptor binding, vitamin D receptor binding, vitamin D receptor binding, mediator complex binding, nuclear hormone receptor binding, chromatin DNA binding, thyroid hormone receptor coactivator activity, thyroid hormone receptor coactivator activity, nuclear receptor coactivator activity, nuclear receptor coactivator activity, estrogen receptor binding, nuclear receptor binding, nuclear receptor binding, transcription factor binding, protein binding, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, chromatin binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001141, GO:2000347, GO:2000273, GO:0097067, GO:0097067, GO:0071383, GO:0071364, GO:0070562, GO:0070371, GO:0070318, GO:0060750, GO:0060745, GO:0060744, GO:0060335, GO:0060261, GO:0048822, GO:0048821, GO:0045944, GO:0045944, GO:0045893, GO:0045665, GO:0045648, GO:0045618, GO:0045444, GO:0043066, GO:0042789, GO:0035855, GO:0035729, GO:0035357, GO:0035162, GO:0035116, GO:0035050, GO:0033148, GO:0031100, GO:0030518, GO:0030224, GO:0030216, GO:0019216, GO:0016567, GO:0010839, GO:0010628, GO:0010628, GO:0007595, GO:0007420, GO:0006702, GO:0006606, GO:0006590, GO:0006367, GO:0006357, GO:0003406, GO:0003222, GO:0002154, GO:0002088, GO:0001892, GO:0001889, GO:0001525, GO:0000902, GO:0000122, regulation of RNA biosynthetic process, positive regulation of hepatocyte proliferation, positive regulation of signaling receptor activity, cellular response to thyroid hormone stimulus, cellular response to thyroid hormone stimulus, cellular response to steroid hormone stimulus, cellular response to epidermal growth factor stimulus, regulation of vitamin D receptor signaling pathway, ERK1 and ERK2 cascade, positive regulation of G0 to G1 transition, epithelial cell proliferation involved in mammary gland duct elongation, mammary gland branching involved in pregnancy, mammary gland branching involved in thelarche, positive regulation of interferon-gamma-mediated signaling pathway, positive regulation of transcription initiation from RNA polymerase II promoter, enucleate erythrocyte development, erythrocyte development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of neuron differentiation, positive regulation of erythrocyte differentiation, positive regulation of keratinocyte differentiation, fat cell differentiation, negative regulation of apoptotic process, mRNA transcription by RNA polymerase II, megakaryocyte development, cellular response to hepatocyte growth factor stimulus, peroxisome proliferator activated receptor signaling pathway, embryonic hemopoiesis, embryonic hindlimb morphogenesis, embryonic heart tube development, positive regulation of intracellular estrogen receptor signaling pathway, animal organ regeneration, intracellular steroid hormone receptor signaling pathway, monocyte differentiation, keratinocyte differentiation, regulation of lipid metabolic process, protein ubiquitination, negative regulation of keratinocyte proliferation, positive regulation of gene expression, positive regulation of gene expression, lactation, brain development, androgen biosynthetic process, protein import into nucleus, thyroid hormone generation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, retinal pigment epithelium development, ventricular trabecula myocardium morphogenesis, thyroid hormone mediated signaling pathway, lens development in camera-type eye, embryonic placenta development, liver development, angiogenesis, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 313 300 331 277 175 284 180 170 129 ENSG00000125691 chr17 38847865 38853843 - RPL23 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 9349 GO:0070062, GO:0032991, GO:0032991, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005840, GO:0005829, GO:0005737, GO:0005730, GO:0005654, extracellular exosome, protein-containing complex, protein-containing complex, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, ribosome, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:1990948, GO:0070180, GO:0031625, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0001223, ubiquitin ligase inhibitor activity, large ribosomal subunit rRNA binding, ubiquitin protein ligase binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, transcription coactivator binding, GO:2000059, GO:1904667, GO:1901798, GO:0072717, GO:0071158, GO:0071157, GO:0050821, GO:0032986, GO:0019083, GO:0010628, GO:0008284, GO:0006614, GO:0006610, GO:0006413, GO:0006412, GO:0000184, GO:0000122, negative regulation of ubiquitin-dependent protein catabolic process, negative regulation of ubiquitin protein ligase activity, positive regulation of signal transduction by p53 class mediator, cellular response to actinomycin D, positive regulation of cell cycle arrest, negative regulation of cell cycle arrest, protein stabilization, protein-DNA complex disassembly, viral transcription, positive regulation of gene expression, positive regulation of cell population proliferation, SRP-dependent cotranslational protein targeting to membrane, ribosomal protein import into nucleus, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, negative regulation of transcription by RNA polymerase II, 864 679 1132 1954 1449 2275 1322 1028 1526 ENSG00000125695 chr17 63702845 63752097 - AC046185.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000125703 chr1 62784135 62865513 + ATG4C protein_coding Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]. 84938 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0008234, GO:0005515, GO:0004197, cysteine-type peptidase activity, protein binding, cysteine-type endopeptidase activity, GO:0015031, GO:0006914, GO:0006508, protein transport, autophagy, proteolysis, 13 10 25 13 30 42 41 27 14 ENSG00000125726 chr19 6583183 6604103 - CD70 protein_coding The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008]. 970 GO:0070062, GO:0005887, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005164, GO:0005125, GO:0005102, GO:0002020, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, protease binding, GO:0097191, GO:0042102, GO:0042100, GO:0033209, GO:0019724, GO:0007267, GO:0007165, GO:0002456, extrinsic apoptotic signaling pathway, positive regulation of T cell proliferation, B cell proliferation, tumor necrosis factor-mediated signaling pathway, B cell mediated immunity, cell-cell signaling, signal transduction, T cell mediated immunity, 0 2 3 15 0 2 6 1 8 ENSG00000125730 chr19 6677704 6730562 - C3 protein_coding Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]. 718 GO:0072562, GO:0070062, GO:0035578, GO:0034774, GO:0032991, GO:0009986, GO:0005886, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, azurophil granule lumen, secretory granule lumen, protein-containing complex, cell surface, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0031715, GO:0005515, GO:0005102, GO:0004866, C5L2 anaphylatoxin chemotactic receptor binding, protein binding, signaling receptor binding, endopeptidase inhibitor activity, GO:2000427, GO:1905114, GO:0150064, GO:0150062, GO:0097278, GO:0097242, GO:0060100, GO:0050776, GO:0048260, GO:0045766, GO:0045745, GO:0044267, GO:0043687, GO:0043312, GO:0030449, GO:0016322, GO:0010951, GO:0010884, GO:0010866, GO:0010828, GO:0010575, GO:0009617, GO:0007186, GO:0007165, GO:0006958, GO:0006957, GO:0006956, GO:0006956, GO:0006956, GO:0006955, GO:0006954, GO:0006631, GO:0001970, GO:0001934, GO:0001798, positive regulation of apoptotic cell clearance, cell surface receptor signaling pathway involved in cell-cell signaling, vertebrate eye-specific patterning, complement-mediated synapse pruning, complement-dependent cytotoxicity, amyloid-beta clearance, positive regulation of phagocytosis, engulfment, regulation of immune response, positive regulation of receptor-mediated endocytosis, positive regulation of angiogenesis, positive regulation of G protein-coupled receptor signaling pathway, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, regulation of complement activation, neuron remodeling, negative regulation of endopeptidase activity, positive regulation of lipid storage, regulation of triglyceride biosynthetic process, positive regulation of glucose transmembrane transport, positive regulation of vascular endothelial growth factor production, response to bacterium, G protein-coupled receptor signaling pathway, signal transduction, complement activation, classical pathway, complement activation, alternative pathway, complement activation, complement activation, complement activation, immune response, inflammatory response, fatty acid metabolic process, positive regulation of activation of membrane attack complex, positive regulation of protein phosphorylation, positive regulation of type IIa hypersensitivity, 21 8 9 17 7 3 25 7 6 ENSG00000125731 chr19 6752160 6767588 - SH2D3A protein_coding 10045 GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0033138, GO:0007264, GO:0007254, positive regulation of peptidyl-serine phosphorylation, small GTPase mediated signal transduction, JNK cascade, 38 23 109 56 19 60 72 16 50 ENSG00000125733 chr19 6737925 6751526 + TRIP10 protein_coding 9322 GO:0070062, GO:0048471, GO:0043231, GO:0042995, GO:0005938, GO:0005856, GO:0005829, GO:0005794, GO:0005764, GO:0005737, GO:0005654, GO:0001891, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, cell projection, cell cortex, cytoskeleton, cytosol, Golgi apparatus, lysosome, cytoplasm, nucleoplasm, phagocytic cup, GO:0042802, GO:0008289, GO:0005515, identical protein binding, lipid binding, protein binding, GO:0061024, GO:0051056, GO:0030036, GO:0007165, GO:0007154, GO:0006897, membrane organization, regulation of small GTPase mediated signal transduction, actin cytoskeleton organization, signal transduction, cell communication, endocytosis, 8 7 26 17 8 16 17 5 17 ENSG00000125734 chr19 6729914 6737603 - GPR108 protein_coding 56927 GO:0016021, GO:0016020, GO:0005794, integral component of membrane, membrane, Golgi apparatus, GO:0005515, protein binding, GO:0006810, transport, 869 769 890 351 520 452 448 429 294 ENSG00000125735 chr19 6661253 6670588 - TNFSF14 protein_coding The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 8740 GO:0016021, GO:0005886, GO:0005737, GO:0005615, integral component of membrane, plasma membrane, cytoplasm, extracellular space, GO:0043027, GO:0005515, GO:0005164, GO:0005125, GO:0005102, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:1901224, GO:0071260, GO:0043154, GO:0043029, GO:0042110, GO:0042098, GO:0033209, GO:0031295, GO:0007165, GO:0006955, GO:0006915, positive regulation of NIK/NF-kappaB signaling, cellular response to mechanical stimulus, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, T cell homeostasis, T cell activation, T cell proliferation, tumor necrosis factor-mediated signaling pathway, T cell costimulation, signal transduction, immune response, apoptotic process, 4037 2328 6317 686 552 1097 968 577 870 ENSG00000125740 chr19 45467995 45475179 + FOSB protein_coding The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2354 GO:0043231, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0008134, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, transcription factor binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071277, GO:0051591, GO:0051412, GO:0045944, GO:0043278, GO:0042493, GO:0032870, GO:0032570, GO:0009612, GO:0007565, GO:0006366, GO:0006357, GO:0000122, cellular response to calcium ion, response to cAMP, response to corticosterone, positive regulation of transcription by RNA polymerase II, response to morphine, response to drug, cellular response to hormone stimulus, response to progesterone, response to mechanical stimulus, female pregnancy, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2211 6109 4040 14658 34220 29675 12019 18245 19781 ENSG00000125741 chr19 45527427 45602212 - OPA3 protein_coding The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 80207 GO:0005739, GO:0005739, GO:0005739, mitochondrion, mitochondrion, mitochondrion, GO:0070584, GO:0060348, GO:0050905, GO:0050896, GO:0045444, GO:0040008, GO:0019216, GO:0007601, mitochondrion morphogenesis, bone development, neuromuscular process, response to stimulus, fat cell differentiation, regulation of growth, regulation of lipid metabolic process, visual perception, 292 199 362 321 200 448 340 163 323 ENSG00000125743 chr19 45687454 45692569 - SNRPD2 protein_coding The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 6633 GO:0071013, GO:0071013, GO:0071011, GO:0071007, GO:0071005, GO:0070062, GO:0046540, GO:0046540, GO:0034719, GO:0034715, GO:0034709, GO:0030532, GO:0005829, GO:0005829, GO:0005689, GO:0005687, GO:0005686, GO:0005685, GO:0005685, GO:0005682, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, precatalytic spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, extracellular exosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, SMN-Sm protein complex, pICln-Sm protein complex, methylosome, small nuclear ribonucleoprotein complex, cytosol, cytosol, U12-type spliceosomal complex, U4 snRNP, U2 snRNP, U1 snRNP, U1 snRNP, U5 snRNP, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0051170, GO:0008380, GO:0000398, GO:0000398, GO:0000398, GO:0000387, GO:0000387, GO:0000387, GO:0000245, import into nucleus, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal complex assembly, 65 34 78 218 163 250 154 102 174 ENSG00000125744 chr19 45485289 45497061 - RTN2 protein_coding This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]. 6253 GO:0030315, GO:0030176, GO:0014802, GO:0005783, T-tubule, integral component of endoplasmic reticulum membrane, terminal cisterna, endoplasmic reticulum, GO:0005515, protein binding, GO:0065002, GO:0046324, intracellular protein transmembrane transport, regulation of glucose import, 189 118 274 54 92 35 71 66 70 ENSG00000125746 chr19 45606994 45645629 - EML2 protein_coding 24139 GO:0072686, GO:0072686, GO:0005875, GO:0005874, GO:0005737, mitotic spindle, mitotic spindle, microtubule associated complex, microtubule, cytoplasm, GO:0015631, GO:0008022, GO:0008017, GO:0008017, GO:0005515, GO:0005102, tubulin binding, protein C-terminus binding, microtubule binding, microtubule binding, protein binding, signaling receptor binding, GO:0031115, GO:0010968, GO:0007605, GO:0007601, GO:0000226, negative regulation of microtubule polymerization, regulation of microtubule nucleation, sensory perception of sound, visual perception, microtubule cytoskeleton organization, 67 70 154 94 65 184 115 65 115 ENSG00000125753 chr19 45506579 45526983 + VASP protein_coding Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008]. 7408 GO:0070062, GO:0031527, GO:0031258, GO:0015629, GO:0005925, GO:0005925, GO:0005923, GO:0005886, GO:0005829, GO:0005829, extracellular exosome, filopodium membrane, lamellipodium membrane, actin cytoskeleton, focal adhesion, focal adhesion, bicellular tight junction, plasma membrane, cytosol, cytosol, GO:0045296, GO:0017124, GO:0005522, GO:0005522, GO:0005515, GO:0003779, cadherin binding, SH3 domain binding, profilin binding, profilin binding, protein binding, actin binding, GO:0051289, GO:0034329, GO:0030838, GO:0030838, GO:0030036, GO:0008154, GO:0007411, GO:0007411, GO:0001843, protein homotetramerization, cell junction assembly, positive regulation of actin filament polymerization, positive regulation of actin filament polymerization, actin cytoskeleton organization, actin polymerization or depolymerization, axon guidance, axon guidance, neural tube closure, 13764 12213 20230 4308 7593 7217 5584 6953 6991 ENSG00000125755 chr19 45815410 45863290 - SYMPK protein_coding This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]. 8189 GO:0097165, GO:0005923, GO:0005886, GO:0005856, GO:0005847, GO:0005829, GO:0005737, GO:0005654, GO:0005654, nuclear stress granule, bicellular tight junction, plasma membrane, cytoskeleton, mRNA cleavage and polyadenylation specificity factor complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0035307, GO:0032091, GO:0031124, GO:0007155, GO:0006406, GO:0006378, GO:0006378, GO:0006369, GO:0000398, positive regulation of protein dephosphorylation, negative regulation of protein binding, mRNA 3'-end processing, cell adhesion, mRNA export from nucleus, mRNA polyadenylation, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 336 435 387 459 414 424 423 295 356 ENSG00000125772 chr20 5544404 5611026 - GPCPD1 protein_coding 56261 GO:0005829, cytosol, GO:2001070, GO:0047389, starch binding, glycerophosphocholine phosphodiesterase activity, GO:0046475, GO:0007519, glycerophospholipid catabolic process, skeletal muscle tissue development, 6001 5779 7853 3066 4533 3861 3631 3621 3302 ENSG00000125775 chr20 1309909 1329239 - SDCBP2 protein_coding The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]. 27111 GO:0070062, GO:0016607, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005737, GO:0005730, extracellular exosome, nuclear speck, plasma membrane, plasma membrane, plasma membrane, cytoplasm, cytoplasm, nucleolus, GO:0046982, GO:0042803, GO:0042802, GO:0008022, GO:0005546, GO:0005515, protein heterodimerization activity, protein homodimerization activity, identical protein binding, protein C-terminus binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0046907, GO:0035556, GO:0008283, GO:0007399, intracellular transport, intracellular signal transduction, cell population proliferation, nervous system development, 39 19 22 39 15 10 21 28 20 ENSG00000125779 chr20 3888839 3929882 + PANK2 protein_coding This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]. 80025 GO:0005829, GO:0005829, GO:0005758, GO:0005758, GO:0005739, GO:0005739, GO:0005634, GO:0005634, cytosol, cytosol, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrion, mitochondrion, nucleus, nucleus, GO:0005524, GO:0004594, GO:0004594, GO:0004594, ATP binding, pantothenate kinase activity, pantothenate kinase activity, pantothenate kinase activity, GO:1904251, GO:0090207, GO:0070584, GO:0051881, GO:0019217, GO:0016310, GO:0015939, GO:0015937, GO:0015937, GO:0015937, GO:0009060, GO:0007286, regulation of bile acid metabolic process, regulation of triglyceride metabolic process, mitochondrion morphogenesis, regulation of mitochondrial membrane potential, regulation of fatty acid metabolic process, phosphorylation, pantothenate metabolic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, aerobic respiration, spermatid development, 1236 1129 1106 881 1490 1291 1028 1213 1032 ENSG00000125780 chr20 2296001 2341078 + TGM3 protein_coding Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]. 7053 GO:0070062, GO:0032991, GO:0031234, GO:0005737, extracellular exosome, protein-containing complex, extrinsic component of cytoplasmic side of plasma membrane, cytoplasm, GO:0016746, GO:0005509, GO:0005198, GO:0003824, GO:0003810, GO:0003810, transferase activity, transferring acyl groups, calcium ion binding, structural molecule activity, catalytic activity, protein-glutamine gamma-glutamyltransferase activity, protein-glutamine gamma-glutamyltransferase activity, GO:0043163, GO:0031424, GO:0031069, GO:0030216, GO:0030216, GO:0018149, GO:0018149, GO:0006464, cell envelope organization, keratinization, hair follicle morphogenesis, keratinocyte differentiation, keratinocyte differentiation, peptide cross-linking, peptide cross-linking, cellular protein modification process, 611 225 2088 94 55 696 253 63 716 ENSG00000125787 chr20 3043622 3045747 + GNRH2 protein_coding This gene is a member of the gonadotropin-releasing hormone (GnRH) gene family. Proteins encoded by members of this gene family are proteolytically cleaved to form neuropeptides which, in part, regulate reproductive functions by stimulating the production and release of the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The human GNRH2 gene is predicted to encode a preproprotein from which a mature neuropeptide of 10 amino acids is cleaved. However, while the human genome retains the sequence for a functional GNRH2 decapeptide, translation of the human GNRH2 gene has not yet been demonstrated and the GNRH2 gene of chimpanzees, gorilla, and Sumatran orangutan have a premature stop at codon eight of the decapeptide sequence which suggests GNRH2 was a pseudogene in the hominid lineage. The GNRH2 gene is also believed to be a pseudogene in many other mammalian species such as mouse and cow. The receptor for this gene (GNRHR2) is predicted to be a pseudogene in human as well as many other mammalian species. The closely related GNRH1 and GNRHR1 genes are functional in human and other mammals and are generally functional in vertebrates. [provided by RefSeq, Mar 2019]. 2797 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0031530, GO:0005183, GO:0005179, gonadotropin-releasing hormone receptor binding, gonadotropin hormone-releasing hormone activity, hormone activity, GO:0007275, GO:0007186, GO:0007165, GO:0000003, multicellular organism development, G protein-coupled receptor signaling pathway, signal transduction, reproduction, 0 0 0 0 4 4 0 4 0 ENSG00000125788 chr20 142369 145751 + DEFB126 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014]. 81623 GO:0005576, extracellular region, GO:0061844, GO:0050829, GO:0045087, GO:0007338, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-negative bacterium, innate immune response, single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000125798 chr20 22581005 22585455 - FOXA2 protein_coding This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]. 3170 GO:0030054, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cell junction, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0019904, GO:0008134, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein domain specific binding, transcription factor binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000971, GO:2000543, GO:2000049, GO:0090009, GO:0071542, GO:0071542, GO:0071542, GO:0070741, GO:0061987, GO:0061178, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0043433, GO:0040019, GO:0033132, GO:0031018, GO:0030193, GO:0030154, GO:0010719, GO:0009653, GO:0008344, GO:0006357, GO:0006357, GO:0006325, GO:0001708, GO:0000432, negative regulation of detection of glucose, positive regulation of gastrulation, positive regulation of cell-cell adhesion mediated by cadherin, primitive streak formation, dopaminergic neuron differentiation, dopaminergic neuron differentiation, dopaminergic neuron differentiation, response to interleukin-6, negative regulation of transcription from RNA polymerase II promoter by glucose, regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, positive regulation of embryonic development, negative regulation of glucokinase activity, endocrine pancreas development, regulation of blood coagulation, cell differentiation, negative regulation of epithelial to mesenchymal transition, anatomical structure morphogenesis, adult locomotory behavior, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin organization, cell fate specification, positive regulation of transcription from RNA polymerase II promoter by glucose, 0 0 0 0 0 0 0 0 0 ENSG00000125804 chr20 26054655 26086917 + FAM182A processed_transcript 284800 0 0 0 0 0 0 0 0 0 ENSG00000125810 chr20 23079349 23086340 - CD93 protein_coding The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]. 22918 GO:0101003, GO:0070821, GO:0035579, GO:0030667, GO:0016021, GO:0009986, GO:0005886, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, specific granule membrane, secretory granule membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, GO:0038023, GO:0030246, GO:0005515, GO:0005509, GO:0001849, signaling receptor activity, carbohydrate binding, protein binding, calcium ion binding, complement component C1q complex binding, GO:0098609, GO:0043312, GO:0042116, GO:0016032, GO:0006909, cell-cell adhesion, neutrophil degranulation, macrophage activation, viral process, phagocytosis, 2246 10275 7281 342 4000 1425 620 3841 1320 ENSG00000125812 chr20 23362182 23373063 + GZF1 protein_coding 64412 GO:0005737, GO:0005730, GO:0005654, GO:0000785, cytoplasm, nucleolus, nucleoplasm, chromatin, GO:0046872, GO:0043565, GO:0001227, GO:0001227, GO:0000981, GO:0000978, GO:0000978, GO:0000978, metal ion binding, sequence-specific DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0006355, GO:0001658, GO:0000122, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, branching involved in ureteric bud morphogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 621 855 635 429 784 933 568 638 697 ENSG00000125813 chr20 21705659 21718486 + PAX1 protein_coding This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]. 5075 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0061056, GO:0060349, GO:0060017, GO:0048856, GO:0048538, GO:0045944, GO:0043374, GO:0043367, GO:0008283, GO:0006366, GO:0006357, GO:0001756, GO:0001501, sclerotome development, bone morphogenesis, parathyroid gland development, anatomical structure development, thymus development, positive regulation of transcription by RNA polymerase II, CD8-positive, alpha-beta T cell differentiation, CD4-positive, alpha-beta T cell differentiation, cell population proliferation, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, somitogenesis, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000125814 chr20 23374519 23421519 - NAPB protein_coding This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor. [provided by RefSeq, Mar 2017]. 63908 GO:0070062, GO:0070044, GO:0045202, GO:0031201, GO:0005774, extracellular exosome, synaptobrevin 2-SNAP-25-syntaxin-1a complex, synapse, SNARE complex, vacuolar membrane, GO:0019905, GO:0005515, GO:0005483, syntaxin binding, protein binding, soluble NSF attachment protein activity, GO:0035494, GO:0035249, GO:0010807, GO:0006886, SNARE complex disassembly, synaptic transmission, glutamatergic, regulation of synaptic vesicle priming, intracellular protein transport, 84 130 122 89 128 169 82 114 161 ENSG00000125815 chr20 23491101 23496018 + CST8 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 10047 GO:0009986, GO:0005737, GO:0005576, cell surface, cytoplasm, extracellular region, GO:0004869, cysteine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000125816 chr20 21395367 21398028 - NKX2-4 protein_coding 644524 GO:0005634, GO:0005575, GO:0000785, nucleus, cellular_component, chromatin, GO:0005515, GO:0003674, GO:0000981, GO:0000981, GO:0000978, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0008150, GO:0007275, GO:0006357, cell differentiation, biological_process, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000125817 chr20 3783851 3786690 - CENPB protein_coding This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008]. 1059 GO:0016604, GO:0005721, GO:0005694, GO:0005654, GO:0005634, GO:0000779, GO:0000775, nuclear body, pericentric heterochromatin, chromosome, nucleoplasm, nucleus, condensed chromosome, centromeric region, chromosome, centromeric region, GO:0043565, GO:0019237, GO:0003696, GO:0003682, GO:0003677, sequence-specific DNA binding, centromeric DNA binding, satellite DNA binding, chromatin binding, DNA binding, 77 98 91 80 46 64 41 46 69 ENSG00000125818 chr20 1113263 1189415 + PSMF1 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]. 9491 GO:0048471, GO:0016020, GO:0005839, GO:0005829, GO:0005829, GO:0005783, GO:0005654, perinuclear region of cytoplasm, membrane, proteasome core complex, cytosol, cytosol, endoplasmic reticulum, nucleoplasm, GO:0070628, GO:0046982, GO:0042803, GO:0005515, GO:0004866, proteasome binding, protein heterodimerization activity, protein homodimerization activity, protein binding, endopeptidase inhibitor activity, GO:1902036, GO:1901990, GO:1901799, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010951, GO:0006521, GO:0006511, GO:0006511, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, negative regulation of proteasomal protein catabolic process, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, negative regulation of endopeptidase activity, regulation of cellular amino acid metabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 442 462 442 295 353 248 276 368 261 ENSG00000125820 chr20 21511010 21514026 - NKX2-2 protein_coding The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]. 4821 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0008134, GO:0001228, GO:0000987, GO:0000981, GO:0000981, GO:0000978, transcription factor binding, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060580, GO:0048714, GO:0048708, GO:0048665, GO:0048565, GO:0045944, GO:0045666, GO:0045665, GO:0032570, GO:0031018, GO:0030154, GO:0021554, GO:0021530, GO:0021522, GO:0014003, GO:0009749, GO:0007420, GO:0007224, GO:0006357, GO:0003329, GO:0003327, GO:0003326, GO:0003323, ventral spinal cord interneuron fate determination, positive regulation of oligodendrocyte differentiation, astrocyte differentiation, neuron fate specification, digestive tract development, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, negative regulation of neuron differentiation, response to progesterone, endocrine pancreas development, cell differentiation, optic nerve development, spinal cord oligodendrocyte cell fate specification, spinal cord motor neuron differentiation, oligodendrocyte development, response to glucose, brain development, smoothened signaling pathway, regulation of transcription by RNA polymerase II, pancreatic PP cell fate commitment, type B pancreatic cell fate commitment, pancreatic A cell fate commitment, type B pancreatic cell development, 0 0 0 0 0 0 0 0 0 ENSG00000125821 chr20 18587893 18766644 + DTD1 protein_coding The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 92675 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0051500, GO:0046872, GO:0003677, GO:0000049, D-tyrosyl-tRNA(Tyr) deacylase activity, metal ion binding, DNA binding, tRNA binding, GO:0106074, GO:0006399, GO:0006260, aminoacyl-tRNA metabolism involved in translational fidelity, tRNA metabolic process, DNA replication, 11 38 70 15 45 76 28 34 42 ENSG00000125823 chr20 23439685 23444930 + CSTL1 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008]. 128817 GO:0005576, extracellular region, GO:0004869, cysteine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000125826 chr20 407498 430966 + RBCK1 protein_coding The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]. 10616 GO:0071797, GO:0071797, GO:0005829, GO:0000151, LUBAC complex, LUBAC complex, cytosol, ubiquitin ligase complex, GO:0046872, GO:0043130, GO:0043130, GO:0042802, GO:0005515, GO:0004842, GO:0004842, metal ion binding, ubiquitin binding, ubiquitin binding, identical protein binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2001238, GO:1901224, GO:0097039, GO:0097039, GO:0060546, GO:0051092, GO:0050852, GO:0043161, GO:0043161, GO:0043123, GO:0043123, GO:0032088, GO:0016032, GO:0010803, GO:0007249, GO:0000209, GO:0000209, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of NIK/NF-kappaB signaling, protein linear polyubiquitination, protein linear polyubiquitination, negative regulation of necroptotic process, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of NF-kappaB transcription factor activity, viral process, regulation of tumor necrosis factor-mediated signaling pathway, I-kappaB kinase/NF-kappaB signaling, protein polyubiquitination, protein polyubiquitination, 1993 1906 2155 964 1291 1067 1177 1254 1084 ENSG00000125827 chr20 7977348 8019829 - TMX4 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]. 56255 GO:0016021, GO:0005637, integral component of membrane, nuclear inner membrane, GO:0055114, oxidation-reduction process, 3233 3805 4795 737 1901 1477 1134 1769 1519 ENSG00000125831 chr20 23450403 23452857 - CST11 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Sep 2014]. 140880 GO:0061827, GO:0061827, GO:0036126, GO:0036126, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005576, sperm head, sperm head, sperm flagellum, sperm flagellum, cytoplasm, cytoplasm, nucleus, nucleus, extracellular region, GO:0004869, cysteine-type endopeptidase inhibitor activity, GO:0050829, GO:0050829, GO:0031640, GO:0030521, GO:0010951, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, killing of cells of other organism, androgen receptor signaling pathway, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000125834 chr20 2101611 2177038 + STK35 protein_coding The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]. 140901 GO:0016604, GO:0005737, GO:0005730, GO:0005654, GO:0005634, nuclear body, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0051321, GO:0006468, meiotic cell cycle, protein phosphorylation, 550 549 983 400 586 738 472 409 468 ENSG00000125835 chr20 2461634 2470853 - SNRPB protein_coding The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]. 6628 GO:0071013, GO:0071013, GO:0071007, GO:0071005, GO:0071004, GO:0046540, GO:0046540, GO:0034719, GO:0034709, GO:0030532, GO:0005829, GO:0005829, GO:0005737, GO:0005697, GO:0005689, GO:0005687, GO:0005687, GO:0005686, GO:0005685, GO:0005685, GO:0005683, GO:0005682, GO:0005681, GO:0005654, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U2-type prespliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, SMN-Sm protein complex, methylosome, small nuclear ribonucleoprotein complex, cytosol, cytosol, cytoplasm, telomerase holoenzyme complex, U12-type spliceosomal complex, U4 snRNP, U4 snRNP, U2 snRNP, U1 snRNP, U1 snRNP, U7 snRNP, U5 snRNP, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0070034, GO:0005515, GO:0003723, GO:0003723, telomerase RNA binding, protein binding, RNA binding, RNA binding, GO:0051170, GO:0008380, GO:0008334, GO:0006479, GO:0006369, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000387, GO:0000387, import into nucleus, RNA splicing, histone mRNA metabolic process, protein methylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 280 263 344 255 287 247 233 263 218 ENSG00000125841 chr20 346782 359660 + NRSN2 protein_coding 80023 GO:0043025, GO:0043005, GO:0030133, GO:0030133, GO:0016021, GO:0005886, neuronal cell body, neuron projection, transport vesicle, transport vesicle, integral component of membrane, plasma membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, GO:0007399, biological_process, nervous system development, 0 0 1 3 1 0 0 1 1 ENSG00000125843 chr20 3820524 3828837 + AP5S1 protein_coding 55317 GO:0031902, GO:0030119, GO:0030119, GO:0005829, GO:0005829, GO:0005770, GO:0005770, GO:0005765, GO:0005764, GO:0005764, GO:0005654, late endosome membrane, AP-type membrane coat adaptor complex, AP-type membrane coat adaptor complex, cytosol, cytosol, late endosome, late endosome, lysosomal membrane, lysosome, lysosome, nucleoplasm, GO:0005515, protein binding, GO:0016197, GO:0016197, GO:0015031, GO:0000724, endosomal transport, endosomal transport, protein transport, double-strand break repair via homologous recombination, 32 31 37 5 16 23 8 11 2 ENSG00000125844 chr20 17613678 17682295 - RRBP1 protein_coding This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]. 6238 GO:0030176, GO:0016020, GO:0005840, GO:0005783, integral component of endoplasmic reticulum membrane, membrane, ribosome, endoplasmic reticulum, GO:0038023, GO:0003723, signaling receptor activity, RNA binding, GO:0015031, GO:0006412, GO:0001649, protein transport, translation, osteoblast differentiation, 520 567 968 322 408 530 427 301 505 ENSG00000125845 chr20 6767664 6780280 + BMP2 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]. 650 GO:0070724, GO:0043231, GO:0009986, GO:0005615, GO:0005615, GO:0005576, BMP receptor complex, intracellular membrane-bounded organelle, cell surface, extracellular space, extracellular space, extracellular region, GO:0070700, GO:0070700, GO:0046332, GO:0039706, GO:0019211, GO:0008083, GO:0005515, GO:0005125, GO:0005125, GO:0005102, GO:0004745, BMP receptor binding, BMP receptor binding, SMAD binding, co-receptor binding, phosphatase activator activity, growth factor activity, protein binding, cytokine activity, cytokine activity, signaling receptor binding, retinol dehydrogenase activity, GO:2000726, GO:2000065, GO:1905222, GO:1905072, GO:1902895, GO:1901522, GO:1900745, GO:0090090, GO:0072138, GO:0071773, GO:0071773, GO:0071407, GO:0070374, GO:0070374, GO:0061312, GO:0061036, GO:0060804, GO:0060485, GO:0060395, GO:0060395, GO:0060389, GO:0060317, GO:0060129, GO:0060128, GO:0060039, GO:0055114, GO:0055008, GO:0055007, GO:0051042, GO:0048839, GO:0048762, GO:0048711, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045786, GO:0045778, GO:0045669, GO:0045666, GO:0045600, GO:0045165, GO:0043569, GO:0043410, GO:0043065, GO:0042487, GO:0042482, GO:0042475, GO:0035630, GO:0035054, GO:0035051, GO:0035051, GO:0033690, GO:0032348, GO:0032092, GO:0031648, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030501, GO:0030335, GO:0030282, GO:0030177, GO:0021978, GO:0021537, GO:0010922, GO:0010894, GO:0010862, GO:0010862, GO:0010862, GO:0010718, GO:0010629, GO:0010628, GO:0010628, GO:0010628, GO:0009887, GO:0009617, GO:0008285, GO:0007507, GO:0007267, GO:0007219, GO:0006954, GO:0006468, GO:0006355, GO:0006029, GO:0003331, GO:0003308, GO:0003272, GO:0003210, GO:0003203, GO:0003181, GO:0003176, GO:0003130, GO:0002062, GO:0001938, GO:0001934, GO:0001837, GO:0001837, GO:0001701, GO:0001666, GO:0001658, GO:0001649, GO:0001501, GO:0000187, GO:0000122, GO:0000122, negative regulation of cardiac muscle cell differentiation, negative regulation of cortisol biosynthetic process, atrioventricular canal morphogenesis, cardiac jelly development, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, positive regulation of p38MAPK cascade, negative regulation of canonical Wnt signaling pathway, mesenchymal cell proliferation involved in ureteric bud development, cellular response to BMP stimulus, cellular response to BMP stimulus, cellular response to organic cyclic compound, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, BMP signaling pathway involved in heart development, positive regulation of cartilage development, positive regulation of Wnt signaling pathway by BMP signaling pathway, mesenchyme development, SMAD protein signal transduction, SMAD protein signal transduction, pathway-restricted SMAD protein phosphorylation, cardiac epithelial to mesenchymal transition, thyroid-stimulating hormone-secreting cell differentiation, corticotropin hormone secreting cell differentiation, pericardium development, oxidation-reduction process, cardiac muscle tissue morphogenesis, cardiac muscle cell differentiation, negative regulation of calcium-independent cell-cell adhesion, inner ear development, mesenchymal cell differentiation, positive regulation of astrocyte differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of cell cycle, positive regulation of ossification, positive regulation of osteoblast differentiation, positive regulation of neuron differentiation, positive regulation of fat cell differentiation, cell fate commitment, negative regulation of insulin-like growth factor receptor signaling pathway, positive regulation of MAPK cascade, positive regulation of apoptotic process, regulation of odontogenesis of dentin-containing tooth, positive regulation of odontogenesis, odontogenesis of dentin-containing tooth, bone mineralization involved in bone maturation, embryonic heart tube anterior/posterior pattern specification, cardiocyte differentiation, cardiocyte differentiation, positive regulation of osteoblast proliferation, negative regulation of aldosterone biosynthetic process, positive regulation of protein binding, protein destabilization, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, positive regulation of cell migration, bone mineralization, positive regulation of Wnt signaling pathway, telencephalon regionalization, telencephalon development, positive regulation of phosphatase activity, negative regulation of steroid biosynthetic process, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial to mesenchymal transition, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, animal organ morphogenesis, response to bacterium, negative regulation of cell population proliferation, heart development, cell-cell signaling, Notch signaling pathway, inflammatory response, protein phosphorylation, regulation of transcription, DNA-templated, proteoglycan metabolic process, positive regulation of extracellular matrix constituent secretion, negative regulation of Wnt signaling pathway involved in heart development, endocardial cushion formation, cardiac atrium formation, endocardial cushion morphogenesis, atrioventricular valve morphogenesis, aortic valve development, BMP signaling pathway involved in heart induction, chondrocyte differentiation, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, epithelial to mesenchymal transition, epithelial to mesenchymal transition, in utero embryonic development, response to hypoxia, branching involved in ureteric bud morphogenesis, osteoblast differentiation, skeletal system development, activation of MAPK activity, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 3 21 0 1 21 0 8 25 ENSG00000125846 chr20 18288283 18316996 + ZNF133 protein_coding 7692 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 8 7 17 24 17 11 18 13 18 ENSG00000125848 chr20 14322988 14337616 - FLRT3 protein_coding This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]. 23767 GO:0099055, GO:0098978, GO:0097060, GO:0044295, GO:0043679, GO:0032584, GO:0031012, GO:0030054, GO:0005925, GO:0005911, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005789, GO:0005615, integral component of postsynaptic membrane, glutamatergic synapse, synaptic membrane, axonal growth cone, axon terminus, growth cone membrane, extracellular matrix, cell junction, focal adhesion, cell-cell junction, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, extracellular space, GO:0045499, GO:0042803, GO:0030674, GO:0005515, GO:0005104, chemorepellent activity, protein homodimerization activity, protein-macromolecule adaptor activity, protein binding, fibroblast growth factor receptor binding, GO:1990138, GO:1990138, GO:0098742, GO:0060322, GO:0051965, GO:0050919, GO:0048678, GO:0048598, GO:0031175, GO:0008543, GO:0008543, GO:0007507, GO:0007416, GO:0007411, GO:0003345, neuron projection extension, neuron projection extension, cell-cell adhesion via plasma-membrane adhesion molecules, head development, positive regulation of synapse assembly, negative chemotaxis, response to axon injury, embryonic morphogenesis, neuron projection development, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, heart development, synapse assembly, axon guidance, proepicardium cell migration involved in pericardium morphogenesis, 1 0 0 0 0 0 0 0 0 ENSG00000125850 chr20 17956979 18059188 - OVOL2 protein_coding This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]. 58495 GO:0005634, GO:0005634, nucleus, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0003682, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000647, GO:0071560, GO:0060716, GO:0060390, GO:0060347, GO:0060214, GO:0048557, GO:0045944, GO:0045618, GO:0010837, GO:0010719, GO:0010719, GO:0010629, GO:0010628, GO:0009953, GO:0009913, GO:0006357, GO:0001947, GO:0001842, GO:0001755, GO:0001525, GO:0000122, negative regulation of stem cell proliferation, cellular response to transforming growth factor beta stimulus, labyrinthine layer blood vessel development, regulation of SMAD protein signal transduction, heart trabecula formation, endocardium formation, embryonic digestive tract morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of keratinocyte differentiation, regulation of keratinocyte proliferation, negative regulation of epithelial to mesenchymal transition, negative regulation of epithelial to mesenchymal transition, negative regulation of gene expression, positive regulation of gene expression, dorsal/ventral pattern formation, epidermal cell differentiation, regulation of transcription by RNA polymerase II, heart looping, neural fold formation, neural crest cell migration, angiogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000125851 chr20 17226107 17484578 + PCSK2 protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]. 5126 GO:0043231, GO:0043204, GO:0043005, GO:0030425, GO:0030141, GO:0030133, GO:0016020, GO:0016020, GO:0005654, GO:0005615, GO:0005615, intracellular membrane-bounded organelle, perikaryon, neuron projection, dendrite, secretory granule, transport vesicle, membrane, membrane, nucleoplasm, extracellular space, extracellular space, GO:0044877, GO:0005515, GO:0004252, GO:0004252, protein-containing complex binding, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0034231, GO:0034230, GO:0030070, GO:0016540, GO:0016486, GO:0016486, GO:0016485, GO:0007399, GO:0006508, islet amyloid polypeptide processing, enkephalin processing, insulin processing, protein autoprocessing, peptide hormone processing, peptide hormone processing, protein processing, nervous system development, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000125861 chr20 3659292 3663399 - GFRA4 protein_coding The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 64096 GO:0043235, GO:0031225, GO:0009897, GO:0005886, GO:0005615, receptor complex, anchored component of membrane, external side of plasma membrane, plasma membrane, extracellular space, GO:0038023, GO:0016167, signaling receptor activity, glial cell-derived neurotrophic factor receptor activity, GO:0035860, GO:0030279, GO:0007411, GO:0007399, GO:0000165, glial cell-derived neurotrophic factor receptor signaling pathway, negative regulation of ossification, axon guidance, nervous system development, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000125863 chr20 10401009 10434222 - MKKS protein_coding This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 8195 GO:1902636, GO:0031514, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005634, GO:0005634, kinociliary basal body, motile cilium, cytosol, centrosome, cytoplasm, cytoplasm, nucleus, nucleus, GO:0051082, GO:0005524, GO:0005515, GO:0001103, unfolded protein binding, ATP binding, protein binding, RNA polymerase II repressing transcription factor binding, GO:1905515, GO:0060324, GO:0060296, GO:0060271, GO:0060271, GO:0060271, GO:0060027, GO:0051877, GO:0051492, GO:0051216, GO:0051131, GO:0050910, GO:0048854, GO:0046907, GO:0046907, GO:0045776, GO:0045494, GO:0045444, GO:0042311, GO:0040018, GO:0038108, GO:0035176, GO:0034260, GO:0032502, GO:0032402, GO:0030837, GO:0021987, GO:0021766, GO:0021756, GO:0014824, GO:0010629, GO:0008406, GO:0007608, GO:0007601, GO:0007507, GO:0007368, GO:0007286, GO:0006457, GO:0001947, non-motile cilium assembly, face development, regulation of cilium beat frequency involved in ciliary motility, cilium assembly, cilium assembly, cilium assembly, convergent extension involved in gastrulation, pigment granule aggregation in cell center, regulation of stress fiber assembly, cartilage development, chaperone-mediated protein complex assembly, detection of mechanical stimulus involved in sensory perception of sound, brain morphogenesis, intracellular transport, intracellular transport, negative regulation of blood pressure, photoreceptor cell maintenance, fat cell differentiation, vasodilation, positive regulation of multicellular organism growth, negative regulation of appetite by leptin-mediated signaling pathway, social behavior, negative regulation of GTPase activity, developmental process, melanosome transport, negative regulation of actin filament polymerization, cerebral cortex development, hippocampus development, striatum development, artery smooth muscle contraction, negative regulation of gene expression, gonad development, sensory perception of smell, visual perception, heart development, determination of left/right symmetry, spermatid development, protein folding, heart looping, 19 36 27 11 18 26 17 39 49 ENSG00000125864 chr20 17493905 17569220 - BFSP1 protein_coding This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 631 GO:0005938, GO:0005886, GO:0005882, GO:0005882, GO:0005737, GO:0005737, cell cortex, plasma membrane, intermediate filament, intermediate filament, cytoplasm, cytoplasm, GO:0005515, GO:0005212, GO:0005200, protein binding, structural constituent of eye lens, structural constituent of cytoskeleton, GO:0070307, GO:0048469, GO:0045109, GO:0008150, lens fiber cell development, cell maturation, intermediate filament organization, biological_process, 0 0 3 0 3 1 6 2 5 ENSG00000125868 chr20 17569863 17609919 + DSTN protein_coding The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 11034 GO:0070062, GO:0015629, GO:0005737, extracellular exosome, actin cytoskeleton, cytoplasm, GO:0051015, GO:0051015, GO:0005515, actin filament binding, actin filament binding, protein binding, GO:0051014, GO:0048870, GO:0030836, GO:0030043, GO:0030042, GO:0030042, GO:0008154, actin filament severing, cell motility, positive regulation of actin filament depolymerization, actin filament fragmentation, actin filament depolymerization, actin filament depolymerization, actin polymerization or depolymerization, 91 86 213 109 88 219 60 73 124 ENSG00000125869 chr20 9514358 9530524 + LAMP5 protein_coding 24141 GO:0055038, GO:0033116, GO:0032590, GO:0032584, GO:0031902, GO:0031901, GO:0030672, GO:0030659, GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005765, recycling endosome membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, dendrite membrane, growth cone membrane, late endosome membrane, early endosome membrane, synaptic vesicle membrane, cytoplasmic vesicle membrane, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, lysosomal membrane, GO:0072594, establishment of protein localization to organelle, 0 0 0 0 0 0 7 0 0 ENSG00000125870 chr20 16729961 16742563 + SNRPB2 protein_coding The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6629 GO:0071013, GO:0071007, GO:0071005, GO:0036464, GO:0016607, GO:0005686, GO:0005685, GO:0005681, GO:0005654, GO:0005634, GO:0001650, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, cytoplasmic ribonucleoprotein granule, nuclear speck, U2 snRNP, U1 snRNP, spliceosomal complex, nucleoplasm, nucleus, fibrillar center, GO:0070990, GO:0030619, GO:0005515, snRNP binding, U1 snRNA binding, protein binding, GO:0000398, GO:0000398, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 127 108 207 143 119 129 101 91 97 ENSG00000125871 chr20 17968913 17991122 + MGME1 protein_coding The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. 92667 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0008297, GO:0008297, GO:0005515, single-stranded DNA exodeoxyribonuclease activity, single-stranded DNA exodeoxyribonuclease activity, protein binding, GO:0090305, GO:0043504, GO:0006264, GO:0006264, GO:0000002, nucleic acid phosphodiester bond hydrolysis, mitochondrial DNA repair, mitochondrial DNA replication, mitochondrial DNA replication, mitochondrial genome maintenance, 166 160 198 100 139 113 90 98 133 ENSG00000125872 chr20 6040778 6054049 - LRRN4 protein_coding 164312 GO:0070062, GO:0005887, extracellular exosome, integral component of plasma membrane, GO:0005515, protein binding, GO:0008542, GO:0007616, visual learning, long-term memory, 0 0 0 0 0 0 0 0 0 ENSG00000125875 chr20 435480 462553 - TBC1D20 protein_coding This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 128637 GO:0033116, GO:0031965, GO:0030173, GO:0005789, GO:0005789, GO:0005783, endoplasmic reticulum-Golgi intermediate compartment membrane, nuclear membrane, integral component of Golgi membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902953, GO:1902017, GO:0090110, GO:0072520, GO:0070309, GO:0048208, GO:0046726, GO:0044829, GO:0043547, GO:0034389, GO:0019068, GO:0007030, GO:0006888, GO:0006888, GO:0001675, positive regulation of ER to Golgi vesicle-mediated transport, regulation of cilium assembly, COPII-coated vesicle cargo loading, seminiferous tubule development, lens fiber cell morphogenesis, COPII vesicle coating, positive regulation by virus of viral protein levels in host cell, positive regulation by host of viral genome replication, positive regulation of GTPase activity, lipid droplet organization, virion assembly, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, acrosome assembly, 510 511 589 342 410 397 349 352 248 ENSG00000125877 chr20 3208868 3223870 + ITPA protein_coding This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 3704 GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005654, nuclear body, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0047429, GO:0046872, GO:0042802, GO:0036218, GO:0035870, GO:0035529, GO:0000166, nucleoside-triphosphate diphosphatase activity, metal ion binding, identical protein binding, dTTP diphosphatase activity, dITP diphosphatase activity, NADH pyrophosphatase activity, nucleotide binding, GO:0051276, GO:0009204, GO:0009143, GO:0006195, GO:0006193, chromosome organization, deoxyribonucleoside triphosphate catabolic process, nucleoside triphosphate catabolic process, purine nucleotide catabolic process, ITP catabolic process, 14 13 35 38 26 39 24 25 58 ENSG00000125878 chr20 603797 610398 - TCF15 protein_coding The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008]. 6939 GO:0090575, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, chromatin, chromatin, GO:0046983, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein dimerization activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1903053, GO:0060231, GO:0050884, GO:0048705, GO:0048644, GO:0048339, GO:0045944, GO:0045198, GO:0043588, GO:0042755, GO:0036342, GO:0032502, GO:0007498, GO:0006357, GO:0003016, GO:0001756, regulation of extracellular matrix organization, mesenchymal to epithelial transition, neuromuscular process controlling posture, skeletal system morphogenesis, muscle organ morphogenesis, paraxial mesoderm development, positive regulation of transcription by RNA polymerase II, establishment of epithelial cell apical/basal polarity, skin development, eating behavior, post-anal tail morphogenesis, developmental process, mesoderm development, regulation of transcription by RNA polymerase II, respiratory system process, somitogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000125879 chr20 16748358 16770062 + OTOR protein_coding This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]. 56914 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0007605, GO:0001502, sensory perception of sound, cartilage condensation, 0 0 0 0 0 0 0 0 0 ENSG00000125885 chr20 5950652 5998977 + MCM8 protein_coding The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]. 84515 GO:0097362, GO:0042555, GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, MCM8-MCM9 complex, MCM complex, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0032408, GO:0032407, GO:0032406, GO:0019899, GO:0005524, GO:0005515, GO:0003697, GO:0003688, GO:0003682, GO:0003678, MutSbeta complex binding, MutSalpha complex binding, MutLbeta complex binding, enzyme binding, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, chromatin binding, DNA helicase activity, GO:0071168, GO:0050821, GO:0048232, GO:0036298, GO:0032508, GO:0007292, GO:0006974, GO:0006260, GO:0006260, GO:0000724, GO:0000724, GO:0000082, protein localization to chromatin, protein stabilization, male gamete generation, recombinational interstrand cross-link repair, DNA duplex unwinding, female gamete generation, cellular response to DNA damage stimulus, DNA replication, DNA replication, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, G1/S transition of mitotic cell cycle, 24 20 36 57 22 73 44 16 37 ENSG00000125888 chr20 17693672 17735871 + BANF2 protein_coding 140836 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0003677, DNA binding, GO:0030261, GO:0007059, chromosome condensation, chromosome segregation, 0 0 0 0 0 0 0 0 0 ENSG00000125895 chr20 1180561 1185415 - TMEM74B protein_coding 55321 GO:0016021, integral component of membrane, 5 0 0 1 5 0 2 1 0 ENSG00000125898 chr20 833715 857463 + FAM110A protein_coding 83541 GO:0005815, GO:0005737, GO:0000922, microtubule organizing center, cytoplasm, spindle pole, GO:0005515, protein binding, 305 286 897 148 186 247 155 170 204 ENSG00000125899 chr20 11027760 11029366 + C20orf187 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000125900 chr20 1534251 1558843 - SIRPD protein_coding 128646 GO:0005886, GO:0005576, plasma membrane, extracellular region, 37 35 37 21 28 28 23 18 8 ENSG00000125901 chr20 3045945 3048254 + MRPS26 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008]. 64949 GO:0005763, GO:0005763, GO:0005743, GO:0005739, GO:0005654, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0003723, RNA binding, GO:0070126, GO:0070125, GO:0042769, mitochondrial translational termination, mitochondrial translational elongation, DNA damage response, detection of DNA damage, 5 7 11 19 7 12 22 6 12 ENSG00000125903 chr20 227258 229886 + DEFB129 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]. 140881 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0042742, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000125910 chr19 3172346 3180332 + S1PR4 protein_coding This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008]. 8698 GO:0005887, GO:0005886, GO:0005886, GO:0005739, GO:0005737, integral component of plasma membrane, plasma membrane, plasma membrane, mitochondrion, cytoplasm, GO:0038036, GO:0008289, GO:0005515, GO:0004930, sphingosine-1-phosphate receptor activity, lipid binding, protein binding, G protein-coupled receptor activity, GO:0019222, GO:0007204, GO:0007202, GO:0007189, GO:0007186, GO:0006955, GO:0003376, regulation of metabolic process, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, sphingosine-1-phosphate receptor signaling pathway, 1064 1186 1081 368 1111 596 637 1106 845 ENSG00000125912 chr19 3185563 3209575 + NCLN protein_coding 56926 GO:0032991, GO:0016021, GO:0016020, GO:0005789, GO:0005789, protein-containing complex, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0061635, GO:0050821, GO:0043254, GO:0009966, regulation of protein complex stability, protein stabilization, regulation of protein-containing complex assembly, regulation of signal transduction, 744 753 972 799 1023 947 850 665 782 ENSG00000125931 chrX 72301638 72307187 - CITED1 protein_coding This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. 4435 GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0070410, GO:0050693, GO:0042803, GO:0008022, GO:0005515, GO:0003713, GO:0003713, GO:0003682, co-SMAD binding, LBD domain binding, protein homodimerization activity, protein C-terminus binding, protein binding, transcription coactivator activity, transcription coactivator activity, chromatin binding, GO:1902462, GO:0071559, GO:0071107, GO:0071105, GO:0071104, GO:0070741, GO:0070670, GO:0070669, GO:0070555, GO:0060711, GO:0060395, GO:0060231, GO:0051591, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0045668, GO:0043627, GO:0043627, GO:0043524, GO:0043473, GO:0042981, GO:0042438, GO:0034341, GO:0034097, GO:0032868, GO:0032496, GO:0030511, GO:0030318, GO:0030318, GO:0030178, GO:0010628, GO:0007420, GO:0007179, GO:0006915, GO:0006913, GO:0006357, GO:0003340, GO:0001890, GO:0001658, GO:0001656, GO:0001570, GO:0000578, positive regulation of mesenchymal stem cell proliferation, response to transforming growth factor beta, response to parathyroid hormone, response to interleukin-11, response to interleukin-9, response to interleukin-6, response to interleukin-4, response to interleukin-2, response to interleukin-1, labyrinthine layer development, SMAD protein signal transduction, mesenchymal to epithelial transition, response to cAMP, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, response to estrogen, response to estrogen, negative regulation of neuron apoptotic process, pigmentation, regulation of apoptotic process, melanin biosynthetic process, response to interferon-gamma, response to cytokine, response to insulin, response to lipopolysaccharide, positive regulation of transforming growth factor beta receptor signaling pathway, melanocyte differentiation, melanocyte differentiation, negative regulation of Wnt signaling pathway, positive regulation of gene expression, brain development, transforming growth factor beta receptor signaling pathway, apoptotic process, nucleocytoplasmic transport, regulation of transcription by RNA polymerase II, negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis, placenta development, branching involved in ureteric bud morphogenesis, metanephros development, vasculogenesis, embryonic axis specification, 0 0 0 0 0 0 0 0 0 ENSG00000125944 chr1 23303771 23344336 - HNRNPR protein_coding This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]. 10236 GO:1990904, GO:1990904, GO:0071013, GO:0043679, GO:0030426, GO:0030425, GO:0005783, GO:0005730, GO:0005681, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, catalytic step 2 spliceosome, axon terminus, growth cone, dendrite, endoplasmic reticulum, nucleolus, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003730, GO:0003729, GO:0003723, GO:0003723, GO:0003723, protein binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, RNA binding, RNA binding, GO:0061157, GO:0043086, GO:0016070, GO:0007623, GO:0006397, GO:0000398, GO:0000398, mRNA destabilization, negative regulation of catalytic activity, RNA metabolic process, circadian rhythm, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 580 528 653 460 353 450 414 317 382 ENSG00000125945 chr1 23359448 23369442 - ZNF436 protein_coding 80818 GO:0005829, GO:0005654, GO:0000785, cytosol, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 52 49 42 50 68 62 41 45 36 ENSG00000125952 chr14 65006174 65102695 - MAX protein_coding The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 4149 GO:0090575, GO:0090575, GO:0071339, GO:0032993, GO:0032993, GO:0030425, GO:0016605, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, MLL1 complex, protein-DNA complex, protein-DNA complex, dendrite, PML body, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0070888, GO:0046983, GO:0044877, GO:0042802, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, protein dimerization activity, protein-containing complex binding, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071375, GO:0070317, GO:0065003, GO:0060041, GO:0051402, GO:0048678, GO:0045944, GO:0032868, GO:0009267, GO:0006357, GO:0000122, GO:0000082, cellular response to peptide hormone stimulus, negative regulation of G0 to G1 transition, protein-containing complex assembly, retina development in camera-type eye, neuron apoptotic process, response to axon injury, positive regulation of transcription by RNA polymerase II, response to insulin, cellular response to starvation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 1287 1431 1860 878 1516 1279 1139 1263 1214 ENSG00000125954 chr14 64914485 65061803 + CHURC1-FNTB protein_coding This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]. 100529261 0 0 0 0 0 0 0 0 0 ENSG00000125962 chrX 102599168 102604159 + ARMCX5 protein_coding 64860 GO:0005515, protein binding, 10 7 20 30 7 19 20 13 23 ENSG00000125965 chr20 35433347 35454746 - GDF5 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]. 8200 GO:0005886, GO:0005615, GO:0005576, plasma membrane, extracellular space, extracellular region, GO:0042802, GO:0036122, GO:0008083, GO:0005515, GO:0005125, identical protein binding, BMP binding, growth factor activity, protein binding, cytokine activity, GO:2001054, GO:0060591, GO:0060395, GO:0060395, GO:0060390, GO:0050680, GO:0045666, GO:0043932, GO:0043524, GO:0040014, GO:0035137, GO:0035136, GO:0032332, GO:0032331, GO:0030513, GO:0030509, GO:0030326, GO:0010862, GO:0009612, GO:0007267, GO:0007179, negative regulation of mesenchymal cell apoptotic process, chondroblast differentiation, SMAD protein signal transduction, SMAD protein signal transduction, regulation of SMAD protein signal transduction, negative regulation of epithelial cell proliferation, positive regulation of neuron differentiation, ossification involved in bone remodeling, negative regulation of neuron apoptotic process, regulation of multicellular organism growth, hindlimb morphogenesis, forelimb morphogenesis, positive regulation of chondrocyte differentiation, negative regulation of chondrocyte differentiation, positive regulation of BMP signaling pathway, BMP signaling pathway, embryonic limb morphogenesis, positive regulation of pathway-restricted SMAD protein phosphorylation, response to mechanical stimulus, cell-cell signaling, transforming growth factor beta receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000125966 chr20 35226654 35277000 + MMP24 protein_coding This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). The gene has previously been referred to as MMP25 but has been renamed matrix metallopeptidase 24 (MMP24). [provided by RefSeq, Oct 2019]. 10893 GO:0070062, GO:0032588, GO:0031012, GO:0005887, extracellular exosome, trans-Golgi network membrane, extracellular matrix, integral component of plasma membrane, GO:0045296, GO:0008270, GO:0008047, GO:0004222, GO:0004222, cadherin binding, zinc ion binding, enzyme activator activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0098742, GO:0097150, GO:0050965, GO:0044331, GO:0043085, GO:0030574, GO:0030198, GO:0010001, GO:0006508, cell-cell adhesion via plasma-membrane adhesion molecules, neuronal stem cell population maintenance, detection of temperature stimulus involved in sensory perception of pain, cell-cell adhesion mediated by cadherin, positive regulation of catalytic activity, collagen catabolic process, extracellular matrix organization, glial cell differentiation, proteolysis, 167 176 206 147 147 168 193 121 138 ENSG00000125967 chr20 33657087 33674463 - NECAB3 protein_coding The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 63941 GO:0005794, GO:0005789, GO:0005783, GO:0005737, GO:0005737, GO:0005634, GO:0000137, GO:0000137, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, Golgi cis cisterna, Golgi cis cisterna, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0042984, GO:0042984, GO:0019538, GO:0009306, regulation of amyloid precursor protein biosynthetic process, regulation of amyloid precursor protein biosynthetic process, protein metabolic process, protein secretion, 11 15 15 20 5 40 15 9 8 ENSG00000125968 chr20 31605283 31606515 + ID1 protein_coding The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3397 GO:0005813, GO:0005794, GO:0005654, GO:0005654, GO:0005634, centrosome, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, GO:0140416, GO:0140110, GO:0070628, GO:0047485, GO:0046983, GO:0043621, GO:0042802, GO:0008134, GO:0008022, GO:0005515, transcription regulator inhibitor activity, transcription regulator activity, proteasome binding, protein N-terminus binding, protein dimerization activity, protein self-association, identical protein binding, transcription factor binding, protein C-terminus binding, protein binding, GO:1990090, GO:1903351, GO:1901653, GO:0120163, GO:0071364, GO:0060426, GO:0060425, GO:0050774, GO:0050679, GO:0048514, GO:0046677, GO:0045892, GO:0045765, GO:0045668, GO:0045602, GO:0043534, GO:0043433, GO:0043408, GO:0043392, GO:0043066, GO:0036164, GO:0032963, GO:0032922, GO:0032233, GO:0032091, GO:0031648, GO:0030509, GO:0030182, GO:0030154, GO:0010628, GO:0010621, GO:0007507, GO:0007420, GO:0007179, GO:0001886, GO:0001525, GO:0000122, GO:0000122, cellular response to nerve growth factor stimulus, cellular response to dopamine, cellular response to peptide, negative regulation of cold-induced thermogenesis, cellular response to epidermal growth factor stimulus, lung vasculature development, lung morphogenesis, negative regulation of dendrite morphogenesis, positive regulation of epithelial cell proliferation, blood vessel morphogenesis, response to antibiotic, negative regulation of transcription, DNA-templated, regulation of angiogenesis, negative regulation of osteoblast differentiation, negative regulation of endothelial cell differentiation, blood vessel endothelial cell migration, negative regulation of DNA-binding transcription factor activity, regulation of MAPK cascade, negative regulation of DNA binding, negative regulation of apoptotic process, cell-abiotic substrate adhesion, collagen metabolic process, circadian regulation of gene expression, positive regulation of actin filament bundle assembly, negative regulation of protein binding, protein destabilization, BMP signaling pathway, neuron differentiation, cell differentiation, positive regulation of gene expression, negative regulation of transcription by transcription factor localization, heart development, brain development, transforming growth factor beta receptor signaling pathway, endothelial cell morphogenesis, angiogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 2 2 2 9 8 8 5 1 ENSG00000125970 chr20 33993646 34108308 + RALY protein_coding This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 22913 GO:0071013, GO:0005634, GO:0005634, catalytic step 2 spliceosome, nucleus, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003712, protein binding, RNA binding, RNA binding, transcription coregulator activity, GO:1903506, GO:0042632, GO:0000398, regulation of nucleic acid-templated transcription, cholesterol homeostasis, mRNA splicing, via spliceosome, 2427 2217 3118 1200 1923 1956 1580 1771 1581 ENSG00000125971 chr20 34516409 34540958 + DYNLRB1 protein_coding This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013]. 83658 GO:0097542, GO:0016020, GO:0005929, GO:0005874, GO:0005868, GO:0005868, GO:0005868, GO:0005813, GO:0005813, GO:0005737, GO:0005737, ciliary tip, membrane, cilium, microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, cytoplasmic dynein complex, centrosome, centrosome, cytoplasm, cytoplasm, GO:0045505, GO:0005515, GO:0003777, dynein intermediate chain binding, protein binding, microtubule motor activity, GO:0035735, GO:0007632, GO:0007018, GO:0007018, intraciliary transport involved in cilium assembly, visual behavior, microtubule-based movement, microtubule-based movement, 204 188 227 150 240 198 156 169 174 ENSG00000125975 chr20 35523186 35529652 - C20orf173 protein_coding 140873 GO:0005515, GO:0003836, protein binding, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, 0 0 0 0 0 0 0 0 0 ENSG00000125977 chr20 34088298 34112332 - EIF2S2 protein_coding Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 8894 GO:0005850, GO:0005850, GO:0005829, GO:0005737, GO:0005634, eukaryotic translation initiation factor 2 complex, eukaryotic translation initiation factor 2 complex, cytosol, cytoplasm, nucleus, GO:0046872, GO:0031369, GO:0008135, GO:0005515, GO:0003743, GO:0003743, GO:0003729, GO:0003723, metal ion binding, translation initiation factor binding, translation factor activity, RNA binding, protein binding, translation initiation factor activity, translation initiation factor activity, mRNA binding, RNA binding, GO:0055085, GO:0008584, GO:0006413, GO:0002176, GO:0001732, GO:0001731, GO:0001701, transmembrane transport, male gonad development, translational initiation, male germ cell proliferation, formation of cytoplasmic translation initiation complex, formation of translation preinitiation complex, in utero embryonic development, 293 250 305 265 293 381 277 268 202 ENSG00000125991 chr20 35542021 35557634 + ERGIC3 protein_coding 51614 GO:0033116, GO:0030176, GO:0030173, GO:0030134, GO:0016020, GO:0016020, GO:0005783, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, COPII-coated ER to Golgi transport vesicle, membrane, membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0006890, GO:0006888, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, 195 184 278 245 192 236 201 155 169 ENSG00000125995 chr20 35699272 35700984 + ROMO1 protein_coding The protein encoded by this gene is a mitochondrial membrane protein that is responsible for increasing the level of reactive oxygen species (ROS) in cells. The protein also has antimicrobial activity against a variety of bacteria by inducing bacterial membrane breakage. [provided by RefSeq, Nov 2014]. 140823 GO:0016021, GO:0005744, GO:0005739, integral component of membrane, TIM23 mitochondrial import inner membrane translocase complex, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:2000379, GO:0090399, GO:0061844, GO:0051838, GO:0050830, GO:0050829, GO:0050829, GO:0045039, GO:0042742, GO:0034614, GO:0031640, GO:0031640, GO:0030150, GO:0008284, positive regulation of reactive oxygen species metabolic process, replicative senescence, antimicrobial humoral immune response mediated by antimicrobial peptide, cytolysis by host of symbiont cells, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, protein insertion into mitochondrial inner membrane, defense response to bacterium, cellular response to reactive oxygen species, killing of cells of other organism, killing of cells of other organism, protein import into mitochondrial matrix, positive regulation of cell population proliferation, 49 49 60 24 36 44 42 40 43 ENSG00000125997 chr20 33347720 33354444 + BPIFB9P transcribed_unitary_pseudogene 1 2 0 5 0 0 0 0 3 ENSG00000125998 chr20 35285731 35292401 - FAM83C protein_coding This gene encodes a member of the family with sequence similarity 83 protein family. The encoded protein may be involved in regulating MAPK signaling in cancer cells. [provided by RefSeq, Mar 2017]. 128876 GO:0019901, GO:0019901, GO:0005515, protein kinase binding, protein kinase binding, protein binding, GO:0007165, signal transduction, 0 0 0 1 0 0 0 0 0 ENSG00000125999 chr20 33273480 33309878 + BPIFB1 protein_coding The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]. 92747 GO:0070062, GO:0005576, GO:0005576, extracellular exosome, extracellular region, extracellular region, GO:0008289, GO:0003674, lipid binding, molecular_function, GO:0034144, GO:0034144, GO:0019730, GO:0002227, GO:0002227, negative regulation of toll-like receptor 4 signaling pathway, negative regulation of toll-like receptor 4 signaling pathway, antimicrobial humoral response, innate immune response in mucosa, innate immune response in mucosa, 0 0 0 0 0 0 0 0 0 ENSG00000126001 chr20 35455164 35519280 + CEP250 protein_coding This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 11190 GO:0070062, GO:0048471, GO:0036064, GO:0032991, GO:0005829, GO:0005815, GO:0005814, GO:0005814, GO:0005813, GO:0001917, GO:0001750, extracellular exosome, perinuclear region of cytoplasm, ciliary basal body, protein-containing complex, cytosol, microtubule organizing center, centriole, centriole, centrosome, photoreceptor inner segment, photoreceptor outer segment, GO:0019904, GO:0019901, GO:0008022, GO:0005515, protein domain specific binding, protein kinase binding, protein C-terminus binding, protein binding, GO:1905515, GO:1904781, GO:0097711, GO:0060271, GO:0050908, GO:0033365, GO:0030997, GO:0010457, GO:0010389, GO:0008104, GO:0000278, GO:0000086, non-motile cilium assembly, positive regulation of protein localization to centrosome, ciliary basal body-plasma membrane docking, cilium assembly, detection of light stimulus involved in visual perception, protein localization to organelle, regulation of centriole-centriole cohesion, centriole-centriole cohesion, regulation of G2/M transition of mitotic cell cycle, protein localization, mitotic cell cycle, G2/M transition of mitotic cell cycle, 77 120 155 222 109 222 184 83 180 ENSG00000126003 chr20 32192503 32207791 - PLAGL2 protein_coding Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008]. 5326 GO:0005634, nucleus, GO:0046872, GO:0043565, GO:0043565, GO:0005515, GO:0003700, GO:0001228, GO:0000981, metal ion binding, sequence-specific DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:2001244, GO:0045944, GO:0034378, GO:0009791, GO:0006629, GO:0006357, GO:0006351, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of transcription by RNA polymerase II, chylomicron assembly, post-embryonic development, lipid metabolic process, regulation of transcription by RNA polymerase II, transcription, DNA-templated, 1219 904 3312 300 372 555 328 364 383 ENSG00000126005 chr20 35201745 35278131 - MMP24OS protein_coding 101410538 656 574 665 388 484 397 418 349 347 ENSG00000126010 chrX 16123556 16153021 + GRPR protein_coding Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. [provided by RefSeq, Jul 2008]. 2925 GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042923, GO:0008528, GO:0008188, GO:0004930, neuropeptide binding, G protein-coupled peptide receptor activity, neuropeptide receptor activity, G protein-coupled receptor activity, GO:0061744, GO:0043207, GO:0042127, GO:0036343, GO:0035176, GO:0007611, GO:0007218, GO:0007200, GO:0007186, GO:0007186, motor behavior, response to external biotic stimulus, regulation of cell population proliferation, psychomotor behavior, social behavior, learning or memory, neuropeptide signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 2 1 0 0 2 0 0 0 ENSG00000126012 chrX 53191321 53225422 - KDM5C protein_coding This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 8242 GO:0035097, GO:0005829, GO:0005654, GO:0005654, GO:0005634, histone methyltransferase complex, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0051213, GO:0034647, GO:0032453, GO:0032453, GO:0032452, GO:0008270, GO:0005515, GO:0003677, dioxygenase activity, histone demethylase activity (H3-trimethyl-K4 specific), histone demethylase activity (H3-K4 specific), histone demethylase activity (H3-K4 specific), histone demethylase activity, zinc ion binding, protein binding, DNA binding, GO:0055114, GO:0048511, GO:0045892, GO:0034721, GO:0034720, GO:0034720, GO:0006338, oxidation-reduction process, rhythmic process, negative regulation of transcription, DNA-templated, histone H3-K4 demethylation, trimethyl-H3-K4-specific, histone H3-K4 demethylation, histone H3-K4 demethylation, chromatin remodeling, 1566 1767 2120 1475 1722 1796 1469 1341 1371 ENSG00000126016 chrX 112774503 112840815 - AMOT protein_coding This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 154796 GO:0031410, GO:0030139, GO:0030054, GO:0030027, GO:0030027, GO:0009897, GO:0008180, GO:0005923, GO:0005886, GO:0005884, GO:0005829, GO:0005654, GO:0001726, cytoplasmic vesicle, endocytic vesicle, cell junction, lamellipodium, lamellipodium, external side of plasma membrane, COP9 signalosome, bicellular tight junction, plasma membrane, actin filament, cytosol, nucleoplasm, ruffle, GO:0043532, GO:0038023, GO:0038023, GO:0005515, angiostatin binding, signaling receptor activity, signaling receptor activity, protein binding, GO:0051056, GO:0043534, GO:0042074, GO:0040019, GO:0035329, GO:0035329, GO:0035329, GO:0034613, GO:0034260, GO:0030334, GO:0030334, GO:0030036, GO:0030036, GO:0016525, GO:0006935, GO:0003365, GO:0001702, GO:0001701, GO:0001570, GO:0001525, regulation of small GTPase mediated signal transduction, blood vessel endothelial cell migration, cell migration involved in gastrulation, positive regulation of embryonic development, hippo signaling, hippo signaling, hippo signaling, cellular protein localization, negative regulation of GTPase activity, regulation of cell migration, regulation of cell migration, actin cytoskeleton organization, actin cytoskeleton organization, negative regulation of angiogenesis, chemotaxis, establishment of cell polarity involved in ameboidal cell migration, gastrulation with mouth forming second, in utero embryonic development, vasculogenesis, angiogenesis, 11 0 10 5 5 43 11 10 6 ENSG00000126062 chr3 50354749 50359610 - TMEM115 protein_coding 11070 GO:0032580, GO:0017119, GO:0016021, GO:0005794, GO:0005794, GO:0005634, GO:0000139, Golgi cisterna membrane, Golgi transport complex, integral component of membrane, Golgi apparatus, Golgi apparatus, nucleus, Golgi membrane, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:0015031, GO:0008285, GO:0006890, GO:0006890, GO:0006888, protein transport, negative regulation of cell population proliferation, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, 269 304 279 84 173 153 141 143 119 ENSG00000126067 chr1 35599544 35641844 - PSMB2 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. 5690 GO:0070062, GO:0019774, GO:0016020, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000502, extracellular exosome, proteasome core complex, beta-subunit complex, membrane, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0005515, GO:0004298, GO:0004175, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0014070, GO:0010972, GO:0010499, GO:0010243, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, response to organic cyclic compound, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, response to organonitrogen compound, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 153 149 197 121 133 148 97 98 118 ENSG00000126070 chr1 35930718 36072500 + AGO3 protein_coding This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 192669 GO:0070578, GO:0036464, GO:0016442, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0000932, GO:0000794, RISC-loading complex, cytoplasmic ribonucleoprotein granule, RISC complex, membrane, cytosol, cytoplasm, nucleoplasm, P-body, condensed nuclear chromosome, GO:0090624, GO:0046872, GO:0035198, GO:0005515, GO:0004521, GO:0003727, GO:0003725, GO:0003723, endoribonuclease activity, cleaving miRNA-paired mRNA, metal ion binding, miRNA binding, protein binding, endoribonuclease activity, single-stranded RNA binding, double-stranded RNA binding, RNA binding, GO:1901224, GO:0090625, GO:0090502, GO:0072091, GO:0045652, GO:0035280, GO:0035279, GO:0035278, GO:0035196, GO:0035194, GO:0031054, GO:0010629, GO:0010628, GO:0010501, GO:0010501, GO:0007223, GO:0006402, positive regulation of NIK/NF-kappaB signaling, mRNA cleavage involved in gene silencing by siRNA, RNA phosphodiester bond hydrolysis, endonucleolytic, regulation of stem cell proliferation, regulation of megakaryocyte differentiation, miRNA loading onto RISC involved in gene silencing by miRNA, mRNA cleavage involved in gene silencing by miRNA, miRNA mediated inhibition of translation, production of miRNAs involved in gene silencing by miRNA, post-transcriptional gene silencing by RNA, pre-miRNA processing, negative regulation of gene expression, positive regulation of gene expression, RNA secondary structure unwinding, RNA secondary structure unwinding, Wnt signaling pathway, calcium modulating pathway, mRNA catabolic process, 636 611 748 555 889 1020 707 610 754 ENSG00000126088 chr1 45012147 45015575 + UROD protein_coding This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]. 7389 GO:0005829, GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, cytosol, nucleoplasm, GO:0005515, GO:0004853, GO:0004853, protein binding, uroporphyrinogen decarboxylase activity, uroporphyrinogen decarboxylase activity, GO:0006783, GO:0006783, GO:0006783, GO:0006782, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, protoporphyrinogen IX biosynthetic process, 41 51 39 87 62 73 47 42 65 ENSG00000126091 chr1 43705824 43931165 + ST3GAL3 protein_coding The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 6487 GO:0032580, GO:0016021, GO:0005576, GO:0000139, Golgi cisterna membrane, integral component of membrane, extracellular region, Golgi membrane, GO:0008373, GO:0008118, GO:0005515, sialyltransferase activity, N-acetyllactosaminide alpha-2,3-sialyltransferase activity, protein binding, GO:0097503, GO:0018146, GO:0016266, GO:0006486, sialylation, keratan sulfate biosynthetic process, O-glycan processing, protein glycosylation, 5 3 3 3 7 12 6 4 3 ENSG00000126106 chr1 44635238 44674555 - TMEM53 protein_coding 79639 GO:0016021, GO:0005634, integral component of membrane, nucleus, 41 46 68 47 65 89 52 43 45 ENSG00000126107 chr1 45002540 45011329 - HECTD3 protein_coding The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012]. 79654 GO:0048471, perinuclear region of cytoplasm, GO:0019905, GO:0005515, GO:0004842, GO:0004842, syntaxin binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0043161, GO:0016567, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, 79 116 98 156 151 149 177 119 112 ENSG00000126214 chr14 103561896 103714249 + KLC1 protein_coding Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named 'kinesin 2', this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008]. 3831 GO:0031410, GO:0030426, GO:0016020, GO:0005874, GO:0005871, GO:0005829, GO:0005829, cytoplasmic vesicle, growth cone, membrane, microtubule, kinesin complex, cytosol, cytosol, GO:0005515, GO:0003774, protein binding, motor activity, GO:0035617, GO:0019886, GO:0016032, GO:0007018, GO:0006890, stress granule disassembly, antigen processing and presentation of exogenous peptide antigen via MHC class II, viral process, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 446 606 718 452 730 629 524 492 478 ENSG00000126215 chr14 103697609 103715504 - XRCC3 protein_coding This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 7517 GO:0048471, GO:0033065, GO:0033065, GO:0005829, GO:0005739, GO:0005737, GO:0005657, GO:0005657, GO:0005654, GO:0005654, GO:0005634, GO:0000781, perinuclear region of cytoplasm, Rad51C-XRCC3 complex, Rad51C-XRCC3 complex, cytosol, mitochondrion, cytoplasm, replication fork, replication fork, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0008821, GO:0008821, GO:0008094, GO:0005524, GO:0005515, GO:0000400, GO:0000400, crossover junction endodeoxyribonuclease activity, crossover junction endodeoxyribonuclease activity, DNA-dependent ATPase activity, ATP binding, protein binding, four-way junction DNA binding, four-way junction DNA binding, GO:0090737, GO:0090657, GO:0090656, GO:0090656, GO:0090656, GO:0090267, GO:0071140, GO:0071140, GO:0045003, GO:0036297, GO:0010824, GO:0010033, GO:0006974, GO:0006310, GO:0006281, GO:0000724, GO:0000722, GO:0000722, telomere maintenance via telomere trimming, telomeric loop disassembly, t-circle formation, t-circle formation, t-circle formation, positive regulation of mitotic cell cycle spindle assembly checkpoint, resolution of mitotic recombination intermediates, resolution of mitotic recombination intermediates, double-strand break repair via synthesis-dependent strand annealing, interstrand cross-link repair, regulation of centrosome duplication, response to organic substance, cellular response to DNA damage stimulus, DNA recombination, DNA repair, double-strand break repair via homologous recombination, telomere maintenance via recombination, telomere maintenance via recombination, 180 265 274 217 391 251 202 264 269 ENSG00000126216 chr13 112485005 112588205 - TUBGCP3 protein_coding 10426 GO:0016020, GO:0008275, GO:0005829, GO:0005827, GO:0005819, GO:0005814, GO:0005813, GO:0005813, GO:0005813, GO:0005737, GO:0000930, GO:0000923, membrane, gamma-tubulin small complex, cytosol, polar microtubule, spindle, centriole, centrosome, centrosome, centrosome, cytoplasm, gamma-tubulin complex, equatorial microtubule organizing center, GO:0051011, GO:0043015, GO:0043015, GO:0005515, GO:0005200, GO:0005198, microtubule minus-end binding, gamma-tubulin binding, gamma-tubulin binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, GO:0051415, GO:0051321, GO:0051225, GO:0031122, GO:0007338, GO:0007020, GO:0000278, microtubule nucleation by interphase microtubule organizing center, meiotic cell cycle, spindle assembly, cytoplasmic microtubule organization, single fertilization, microtubule nucleation, mitotic cell cycle, 380 426 452 274 419 403 312 380 327 ENSG00000126217 chr13 112894378 113099739 + MCF2L protein_coding This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 23263 GO:0012505, GO:0005886, GO:0005829, GO:0005615, endomembrane system, plasma membrane, cytosol, extracellular space, GO:0035091, GO:0005085, phosphatidylinositol binding, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0043065, GO:0035556, GO:0007186, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, intracellular signal transduction, G protein-coupled receptor signaling pathway, 11 3 5 18 0 21 19 1 15 ENSG00000126218 chr13 113122814 113149529 + F10 protein_coding This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]. 2159 GO:0031233, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005576, GO:0005576, intrinsic component of external side of plasma membrane, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, extracellular region, GO:0005543, GO:0005515, GO:0005509, GO:0004252, GO:0004252, phospholipid binding, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0051897, GO:0030335, GO:0007598, GO:0007596, GO:0007596, GO:0007596, GO:0006888, GO:0006508, positive regulation of protein kinase B signaling, positive regulation of cell migration, blood coagulation, extrinsic pathway, blood coagulation, blood coagulation, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000126226 chr13 113177539 113208715 - PCID2 protein_coding This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 55795 GO:0070390, GO:0070390, GO:0044615, GO:0005737, GO:0005634, transcription export complex 2, transcription export complex 2, nuclear pore nuclear basket, cytoplasm, nucleus, GO:0005515, GO:0003723, GO:0003690, protein binding, RNA binding, double-stranded DNA binding, GO:2000117, GO:0090267, GO:0071033, GO:0048536, GO:0045893, GO:0045579, GO:0043488, GO:0043066, GO:0016973, GO:0006368, GO:0000973, negative regulation of cysteine-type endopeptidase activity, positive regulation of mitotic cell cycle spindle assembly checkpoint, nuclear retention of pre-mRNA at the site of transcription, spleen development, positive regulation of transcription, DNA-templated, positive regulation of B cell differentiation, regulation of mRNA stability, negative regulation of apoptotic process, poly(A)+ mRNA export from nucleus, transcription elongation from RNA polymerase II promoter, posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery, 64 78 125 136 61 111 79 63 96 ENSG00000126231 chr13 113158654 113172383 + PROZ protein_coding This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 8858 GO:0070062, GO:0005796, GO:0005788, GO:0005615, extracellular exosome, Golgi lumen, endoplasmic reticulum lumen, extracellular space, GO:0005515, GO:0005509, GO:0004252, protein binding, calcium ion binding, serine-type endopeptidase activity, GO:0007596, GO:0006888, GO:0006508, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, proteolysis, 0 1 0 2 2 0 2 0 0 ENSG00000126233 chr8 142740944 142742411 - SLURP1 protein_coding The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]. 57152 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0030549, GO:0030549, GO:0005515, GO:0005125, acetylcholine receptor activator activity, acetylcholine receptor activator activity, protein binding, cytokine activity, GO:0099601, GO:0050884, GO:0038195, GO:0030336, GO:0010839, GO:0008285, GO:0007626, GO:0007155, GO:0001775, regulation of neurotransmitter receptor activity, neuromuscular process controlling posture, urokinase plasminogen activator signaling pathway, negative regulation of cell migration, negative regulation of keratinocyte proliferation, negative regulation of cell population proliferation, locomotory behavior, cell adhesion, cell activation, 0 0 0 0 0 0 0 2 0 ENSG00000126243 chr19 35935358 35945767 + LRFN3 protein_coding 79414 GO:0099059, GO:0030425, GO:0030424, GO:0009986, GO:0005886, integral component of presynaptic active zone membrane, dendrite, axon, cell surface, plasma membrane, 4 3 4 6 3 1 10 4 15 ENSG00000126246 chr19 35738801 35742453 - IGFLR1 protein_coding 79713 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, 32 28 35 17 23 32 18 18 30 ENSG00000126247 chr19 36139575 36150353 + CAPNS1 protein_coding This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 826 GO:0070062, GO:0016020, GO:0005886, GO:0005829, GO:0005829, extracellular exosome, membrane, plasma membrane, cytosol, cytosol, GO:0005515, GO:0005509, GO:0004198, protein binding, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, GO:0070268, GO:0022617, GO:0016241, GO:0008284, GO:0006508, cornification, extracellular matrix disassembly, regulation of macroautophagy, positive regulation of cell population proliferation, proteolysis, 528 664 792 351 524 458 337 468 391 ENSG00000126249 chr19 34404384 34426168 + PDCD2L protein_coding 84306 GO:0016020, GO:0005737, membrane, cytoplasm, GO:0005515, protein binding, GO:0007049, cell cycle, 2 4 0 2 0 2 2 0 0 ENSG00000126251 chr19 35370929 35372962 + GPR42 protein_coding 2866 GO:0005887, integral component of plasma membrane, GO:0005515, GO:0004930, GO:0004930, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0007186, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 7 4 10 1 4 1 5 0 2 ENSG00000126254 chr19 35629030 35637686 + RBM42 protein_coding 79171 GO:1990904, GO:0005737, GO:0005634, ribonucleoprotein complex, cytoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0048025, negative regulation of mRNA splicing, via spliceosome, 585 679 624 226 416 358 313 388 312 ENSG00000126259 chr19 35855861 35867109 + KIRREL2 protein_coding This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]. 84063 GO:0036057, GO:0016021, GO:0005911, GO:0005911, GO:0005887, GO:0005886, GO:0005886, slit diaphragm, integral component of membrane, cell-cell junction, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0050839, GO:0042802, GO:0005515, cell adhesion molecule binding, identical protein binding, protein binding, GO:0098609, GO:0007155, GO:0001933, cell-cell adhesion, cell adhesion, negative regulation of protein phosphorylation, 4 3 1 1 1 11 3 0 0 ENSG00000126261 chr19 34428352 34471251 + UBA2 protein_coding Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]. 10054 GO:0031510, GO:0031510, GO:0005737, GO:0005654, GO:0005654, SUMO activating enzyme complex, SUMO activating enzyme complex, cytoplasm, nucleoplasm, nucleoplasm, GO:0046982, GO:0044390, GO:0044388, GO:0032183, GO:0019948, GO:0019948, GO:0019948, GO:0019948, GO:0016740, GO:0005524, GO:0005515, GO:0000287, protein heterodimerization activity, ubiquitin-like protein conjugating enzyme binding, small protein activating enzyme binding, SUMO binding, SUMO activating enzyme activity, SUMO activating enzyme activity, SUMO activating enzyme activity, SUMO activating enzyme activity, transferase activity, ATP binding, protein binding, magnesium ion binding, GO:0033235, GO:0032446, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016925, positive regulation of protein sumoylation, protein modification by small protein conjugation, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, 97 71 141 188 103 236 183 74 158 ENSG00000126262 chr19 35443907 35451767 + FFAR2 protein_coding This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]. 2867 GO:0042995, GO:0005887, GO:0005886, GO:0005886, cell projection, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0008289, GO:0005515, GO:0004930, lipid binding, protein binding, G protein-coupled receptor activity, GO:0090276, GO:0071398, GO:0045444, GO:0042593, GO:0032757, GO:0032722, GO:0019915, GO:0007186, GO:0007186, GO:0002879, GO:0002752, GO:0002720, GO:0002673, GO:0002385, GO:0002232, regulation of peptide hormone secretion, cellular response to fatty acid, fat cell differentiation, glucose homeostasis, positive regulation of interleukin-8 production, positive regulation of chemokine production, lipid storage, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, positive regulation of acute inflammatory response to non-antigenic stimulus, cell surface pattern recognition receptor signaling pathway, positive regulation of cytokine production involved in immune response, regulation of acute inflammatory response, mucosal immune response, leukocyte chemotaxis involved in inflammatory response, 10234 6842 17101 3329 3463 4578 3762 3080 4104 ENSG00000126264 chr19 35902480 35904377 + HCST protein_coding This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 10870 GO:0016021, GO:0009986, GO:0005886, integral component of membrane, cell surface, plasma membrane, GO:0043548, GO:0043548, GO:0005515, GO:0005102, GO:0005102, phosphatidylinositol 3-kinase binding, phosphatidylinositol 3-kinase binding, protein binding, signaling receptor binding, signaling receptor binding, GO:0050776, GO:0014068, GO:0014068, GO:0006468, regulation of immune response, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, protein phosphorylation, 154 179 267 241 266 398 252 262 423 ENSG00000126266 chr19 35351552 35353862 + FFAR1 protein_coding This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]. 2864 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0045125, GO:0008289, GO:0004930, bioactive lipid receptor activity, lipid binding, G protein-coupled receptor activity, GO:0070542, GO:0051928, GO:0042593, GO:0032691, GO:0032024, GO:0030073, GO:0007204, GO:0007186, response to fatty acid, positive regulation of calcium ion transport, glucose homeostasis, negative regulation of interleukin-1 beta production, positive regulation of insulin secretion, insulin secretion, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, 0 0 3 0 0 0 1 0 0 ENSG00000126267 chr19 35648223 35658861 + COX6B1 protein_coding Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]. 1340 GO:0045277, GO:0005743, GO:0005739, respiratory chain complex IV, mitochondrial inner membrane, mitochondrion, GO:0004129, cytochrome-c oxidase activity, GO:1902600, GO:0021762, GO:0006123, proton transmembrane transport, substantia nigra development, mitochondrial electron transport, cytochrome c to oxygen, 484 323 414 215 414 357 254 389 287 ENSG00000126337 chr17 41486136 41492546 - KRT36 protein_coding The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. 8689 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0030280, structural constituent of skin epidermis, GO:0070268, GO:0045616, GO:0031424, GO:0008150, cornification, regulation of keratinocyte differentiation, keratinization, biological_process, 1 0 0 0 0 0 0 0 0 ENSG00000126351 chr17 40058290 40093867 + THRA protein_coding The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 7067 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:0070324, GO:0070324, GO:0044877, GO:0031490, GO:0019904, GO:0017025, GO:0008270, GO:0008134, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0000981, GO:0000978, GO:0000976, thyroid hormone binding, thyroid hormone binding, protein-containing complex binding, chromatin DNA binding, protein domain specific binding, TBP-class protein binding, zinc ion binding, transcription factor binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000143, GO:0120162, GO:0060509, GO:0050994, GO:0045944, GO:0045925, GO:0045892, GO:0033032, GO:0030878, GO:0030218, GO:0030154, GO:0017055, GO:0009755, GO:0009755, GO:0009409, GO:0008050, GO:0008016, GO:0007611, GO:0006367, GO:0006366, GO:0006357, GO:0002155, GO:0002154, GO:0001503, GO:0001502, GO:0000122, negative regulation of DNA-templated transcription, initiation, positive regulation of cold-induced thermogenesis, type I pneumocyte differentiation, regulation of lipid catabolic process, positive regulation of transcription by RNA polymerase II, positive regulation of female receptivity, negative regulation of transcription, DNA-templated, regulation of myeloid cell apoptotic process, thyroid gland development, erythrocyte differentiation, cell differentiation, negative regulation of RNA polymerase II transcription preinitiation complex assembly, hormone-mediated signaling pathway, hormone-mediated signaling pathway, response to cold, female courtship behavior, regulation of heart contraction, learning or memory, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of thyroid hormone mediated signaling pathway, thyroid hormone mediated signaling pathway, ossification, cartilage condensation, negative regulation of transcription by RNA polymerase II, 123 114 169 92 141 156 121 123 146 ENSG00000126353 chr17 40553769 40565472 - CCR7 protein_coding The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 1236 GO:0016021, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005739, integral component of membrane, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, mitochondrion, GO:0038121, GO:0038117, GO:0038117, GO:0035758, GO:0035758, GO:0035757, GO:0035757, GO:0019957, GO:0016493, GO:0016493, GO:0004930, C-C motif chemokine 21 receptor activity, C-C motif chemokine 19 receptor activity, C-C motif chemokine 19 receptor activity, chemokine (C-C motif) ligand 21 binding, chemokine (C-C motif) ligand 21 binding, chemokine (C-C motif) ligand 19 binding, chemokine (C-C motif) ligand 19 binding, C-C chemokine binding, C-C chemokine receptor activity, C-C chemokine receptor activity, G protein-coupled receptor activity, GO:2000669, GO:2000547, GO:2000526, GO:2000525, GO:2000522, GO:2000510, GO:2000147, GO:0097029, GO:0097022, GO:0090630, GO:0090023, GO:0071731, GO:0071345, GO:0070374, GO:0060326, GO:0051897, GO:0051491, GO:0051209, GO:0050862, GO:0048872, GO:0046330, GO:0045860, GO:0045785, GO:0045060, GO:0043552, GO:0043123, GO:0038116, GO:0038115, GO:0034695, GO:0032735, GO:0032695, GO:0032651, GO:0032649, GO:0032496, GO:0031529, GO:0031274, GO:0030838, GO:0019722, GO:0007204, GO:0007186, GO:0006955, GO:0006954, GO:0002922, GO:0002885, GO:0002606, GO:0002408, GO:0002408, GO:0002407, GO:0001954, GO:0001768, negative regulation of dendritic cell apoptotic process, regulation of dendritic cell dendrite assembly, positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation, positive regulation of T cell costimulation, positive regulation of immunological synapse formation, positive regulation of dendritic cell chemotaxis, positive regulation of cell motility, mature conventional dendritic cell differentiation, lymphocyte migration into lymph node, activation of GTPase activity, positive regulation of neutrophil chemotaxis, response to nitric oxide, cellular response to cytokine stimulus, positive regulation of ERK1 and ERK2 cascade, cell chemotaxis, positive regulation of protein kinase B signaling, positive regulation of filopodium assembly, release of sequestered calcium ion into cytosol, positive regulation of T cell receptor signaling pathway, homeostasis of number of cells, positive regulation of JNK cascade, positive regulation of protein kinase activity, positive regulation of cell adhesion, negative thymic T cell selection, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, chemokine (C-C motif) ligand 21 signaling pathway, chemokine (C-C motif) ligand 19 signaling pathway, response to prostaglandin E, positive regulation of interleukin-12 production, negative regulation of interleukin-12 production, regulation of interleukin-1 beta production, regulation of interferon-gamma production, response to lipopolysaccharide, ruffle organization, positive regulation of pseudopodium assembly, positive regulation of actin filament polymerization, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, inflammatory response, positive regulation of humoral immune response, positive regulation of hypersensitivity, positive regulation of dendritic cell antigen processing and presentation, myeloid dendritic cell chemotaxis, myeloid dendritic cell chemotaxis, dendritic cell chemotaxis, positive regulation of cell-matrix adhesion, establishment of T cell polarity, 251 169 678 160 52 198 247 77 156 ENSG00000126368 chr17 40092787 40100725 - NR1D1 protein_coding This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]. 9572 GO:0043197, GO:0030425, GO:0016604, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, dendritic spine, dendrite, nuclear body, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0070888, GO:0020037, GO:0008270, GO:0005515, GO:0004879, GO:0003707, GO:0001227, GO:0001222, GO:0001222, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, E-box binding, heme binding, zinc ion binding, protein binding, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription corepressor binding, transcription corepressor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1903979, GO:0150079, GO:0120163, GO:0071356, GO:0071347, GO:0071222, GO:0070859, GO:0061889, GO:0061469, GO:0061178, GO:0060086, GO:0050728, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0045598, GO:0044321, GO:0044321, GO:0043401, GO:0043124, GO:0042752, GO:0042749, GO:0042632, GO:0042632, GO:0034144, GO:0032922, GO:0031648, GO:0030522, GO:0030154, GO:0019216, GO:0010498, GO:0009755, GO:0007623, GO:0006367, GO:0005978, GO:0001678, GO:0000122, GO:0000122, GO:0000122, negative regulation of microglial cell activation, negative regulation of neuroinflammatory response, negative regulation of cold-induced thermogenesis, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to lipopolysaccharide, positive regulation of bile acid biosynthetic process, negative regulation of astrocyte activation, regulation of type B pancreatic cell proliferation, regulation of insulin secretion involved in cellular response to glucose stimulus, circadian temperature homeostasis, negative regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of fat cell differentiation, response to leptin, response to leptin, steroid hormone mediated signaling pathway, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of circadian rhythm, regulation of circadian sleep/wake cycle, cholesterol homeostasis, cholesterol homeostasis, negative regulation of toll-like receptor 4 signaling pathway, circadian regulation of gene expression, protein destabilization, intracellular receptor signaling pathway, cell differentiation, regulation of lipid metabolic process, proteasomal protein catabolic process, hormone-mediated signaling pathway, circadian rhythm, transcription initiation from RNA polymerase II promoter, glycogen biosynthetic process, cellular glucose homeostasis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 41 23 64 60 43 108 122 47 105 ENSG00000126391 chr11 65386599 65413525 + FRMD8 protein_coding 83786 GO:0005886, GO:0005856, GO:0005829, plasma membrane, cytoskeleton, cytosol, GO:0005515, protein binding, GO:0032760, GO:0032760, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, 882 1101 1333 509 798 669 613 717 584 ENSG00000126432 chr11 64318088 64321811 + PRDX5 protein_coding This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein interacts with peroxisome receptor 1 and plays an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. The use of alternate transcription start sites is thought to result in transcript variants that use different in-frame translational start codons to generate isoforms that are targeted to the mitochondrion (isoform L) or peroxisome/cytoplasm (isoform S). Multiple related pseudogenes have been defined for this gene. [provided by RefSeq, Nov 2017]. 25824 GO:0070062, GO:0048471, GO:0043231, GO:0031410, GO:0005829, GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005759, GO:0005739, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0005615, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, cytoplasmic vesicle, cytosol, cytosol, peroxisomal matrix, peroxisome, peroxisome, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, cytoplasm, nucleus, extracellular space, GO:0043027, GO:0008379, GO:0008379, GO:0005515, GO:0004601, GO:0001016, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, thioredoxin peroxidase activity, thioredoxin peroxidase activity, protein binding, peroxidase activity, RNA polymerase III transcription regulatory region sequence-specific DNA binding, GO:0098869, GO:0055114, GO:0045454, GO:0043154, GO:0043066, GO:0042744, GO:0034614, GO:0034599, GO:0034599, GO:0016480, GO:0006979, GO:0006954, GO:0006915, cellular oxidant detoxification, oxidation-reduction process, cell redox homeostasis, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, hydrogen peroxide catabolic process, cellular response to reactive oxygen species, cellular response to oxidative stress, cellular response to oxidative stress, negative regulation of transcription by RNA polymerase III, response to oxidative stress, inflammatory response, apoptotic process, 823 682 1157 268 514 450 324 531 452 ENSG00000126453 chr19 49665142 49673916 + BCL2L12 protein_coding This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 83596 GO:0016020, GO:0005634, membrane, nucleus, GO:0002039, p53 binding, GO:2001236, GO:2000773, GO:1990001, GO:1902166, GO:0045944, GO:0006915, regulation of extrinsic apoptotic signaling pathway, negative regulation of cellular senescence, inhibition of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of transcription by RNA polymerase II, apoptotic process, 126 124 130 295 400 389 343 312 284 ENSG00000126456 chr19 49659569 49665875 - IRF3 protein_coding This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020]. 3661 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0042803, GO:0042803, GO:0042802, GO:0019904, GO:0005515, GO:0003677, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, protein domain specific binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097300, GO:0071888, GO:0071360, GO:0060340, GO:0060337, GO:0060333, GO:0051607, GO:0050727, GO:0045944, GO:0045944, GO:0043123, GO:0039530, GO:0035666, GO:0035666, GO:0032728, GO:0032728, GO:0032727, GO:0032606, GO:0032481, GO:0032481, GO:0032480, GO:0032479, GO:0031663, GO:0016032, GO:0006974, GO:0006915, GO:0006357, GO:0002376, GO:0001819, GO:0000122, programmed necrotic cell death, macrophage apoptotic process, cellular response to exogenous dsRNA, positive regulation of type I interferon-mediated signaling pathway, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of I-kappaB kinase/NF-kappaB signaling, MDA-5 signaling pathway, TRIF-dependent toll-like receptor signaling pathway, TRIF-dependent toll-like receptor signaling pathway, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, type I interferon production, positive regulation of type I interferon production, positive regulation of type I interferon production, negative regulation of type I interferon production, regulation of type I interferon production, lipopolysaccharide-mediated signaling pathway, viral process, cellular response to DNA damage stimulus, apoptotic process, regulation of transcription by RNA polymerase II, immune system process, positive regulation of cytokine production, negative regulation of transcription by RNA polymerase II, 337 404 369 581 563 538 574 447 413 ENSG00000126457 chr19 49675786 49689029 + PRMT1 protein_coding This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]. 3276 GO:0034709, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, methylosome, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1904047, GO:0048273, GO:0044020, GO:0044020, GO:0042802, GO:0042802, GO:0042054, GO:0035242, GO:0035242, GO:0035241, GO:0019899, GO:0016274, GO:0016274, GO:0016274, GO:0008327, GO:0008276, GO:0008276, GO:0008170, GO:0008170, GO:0008168, GO:0005515, GO:0003723, S-adenosyl-L-methionine binding, mitogen-activated protein kinase p38 binding, histone methyltransferase activity (H4-R3 specific), histone methyltransferase activity (H4-R3 specific), identical protein binding, identical protein binding, histone methyltransferase activity, protein-arginine omega-N asymmetric methyltransferase activity, protein-arginine omega-N asymmetric methyltransferase activity, protein-arginine omega-N monomethyltransferase activity, enzyme binding, protein-arginine N-methyltransferase activity, protein-arginine N-methyltransferase activity, protein-arginine N-methyltransferase activity, methyl-CpG binding, protein methyltransferase activity, protein methyltransferase activity, N-methyltransferase activity, N-methyltransferase activity, methyltransferase activity, protein binding, RNA binding, GO:1900745, GO:0051260, GO:0046985, GO:0045653, GO:0045652, GO:0045652, GO:0045648, GO:0043985, GO:0043985, GO:0031175, GO:0019919, GO:0018216, GO:0016571, GO:0008284, GO:0007166, GO:0006977, GO:0006479, GO:0001701, positive regulation of p38MAPK cascade, protein homooligomerization, positive regulation of hemoglobin biosynthetic process, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, positive regulation of erythrocyte differentiation, histone H4-R3 methylation, histone H4-R3 methylation, neuron projection development, peptidyl-arginine methylation, to asymmetrical-dimethyl arginine, peptidyl-arginine methylation, histone methylation, positive regulation of cell population proliferation, cell surface receptor signaling pathway, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, protein methylation, in utero embryonic development, 77 86 126 157 115 153 93 91 76 ENSG00000126458 chr19 49635292 49640201 - RRAS protein_coding The protein encoded by this gene is a small GTPase involved in diverse processes including angiogenesis, vascular homeostasis and regeneration, cell adhesion, and neuronal axon guidance. Mutations in this gene are found in many invasive cancers. [provided by RefSeq, Jul 2015]. 6237 GO:0070062, GO:0005925, GO:0005886, GO:0005886, extracellular exosome, focal adhesion, plasma membrane, plasma membrane, GO:0044877, GO:0019003, GO:0019003, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, protein-containing complex binding, GDP binding, GDP binding, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:2001214, GO:1904906, GO:0070372, GO:0060325, GO:0051896, GO:0045766, GO:0030336, GO:0010595, GO:0007265, GO:0002521, positive regulation of vasculogenesis, positive regulation of endothelial cell-matrix adhesion via fibronectin, regulation of ERK1 and ERK2 cascade, face morphogenesis, regulation of protein kinase B signaling, positive regulation of angiogenesis, negative regulation of cell migration, positive regulation of endothelial cell migration, Ras protein signal transduction, leukocyte differentiation, 8 9 9 18 12 13 10 14 31 ENSG00000126460 chr19 49580646 49591015 + PRRG2 protein_coding The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5639 GO:0005887, GO:0005615, integral component of plasma membrane, extracellular space, GO:0005515, GO:0005509, protein binding, calcium ion binding, 2 5 1 0 0 6 0 2 2 ENSG00000126461 chr19 49642125 49658642 + SCAF1 protein_coding 58506 GO:0005634, nucleus, GO:0099122, GO:0099122, GO:0019904, GO:0005515, GO:0003723, RNA polymerase II C-terminal domain binding, RNA polymerase II C-terminal domain binding, protein domain specific binding, protein binding, RNA binding, GO:0008380, GO:0006397, GO:0006366, RNA splicing, mRNA processing, transcription by RNA polymerase II, 800 1024 1009 439 625 491 513 533 426 ENSG00000126464 chr19 49591643 49626439 + PRR12 protein_coding This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]. 57479 GO:0043005, GO:0014069, GO:0005634, neuron projection, postsynaptic density, nucleus, 122 169 196 119 113 157 111 123 139 ENSG00000126467 chr19 49739753 49763330 - TSKS protein_coding This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]. 60385 GO:0005814, GO:0005814, GO:0005737, centriole, centriole, cytoplasm, GO:0019901, GO:0019901, GO:0005515, protein kinase binding, protein kinase binding, protein binding, GO:0010923, negative regulation of phosphatase activity, 0 0 0 5 2 0 1 0 0 ENSG00000126500 chr11 64103188 64119173 + FLRT1 protein_coding This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]. 23769 GO:0048471, GO:0044306, GO:0032809, GO:0031410, GO:0031012, GO:0030659, GO:0005925, GO:0005911, GO:0005887, GO:0005887, GO:0005886, GO:0005789, GO:0005615, perinuclear region of cytoplasm, neuron projection terminus, neuronal cell body membrane, cytoplasmic vesicle, extracellular matrix, cytoplasmic vesicle membrane, focal adhesion, cell-cell junction, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, extracellular space, GO:0030674, protein-macromolecule adaptor activity, GO:1990138, GO:0016358, GO:0008543, GO:0008543, GO:0007155, neuron projection extension, dendrite development, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, cell adhesion, 2 0 0 2 0 6 1 1 3 ENSG00000126522 chr7 66075798 66093558 + ASL protein_coding This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 435 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0042802, GO:0005515, GO:0004056, identical protein binding, protein binding, argininosuccinate lyase activity, GO:0042450, GO:0000050, GO:0000050, arginine biosynthetic process via ornithine, urea cycle, urea cycle, 83 56 93 41 128 121 69 77 80 ENSG00000126524 chr7 66987677 66995601 - SBDS protein_coding This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]. 51119 GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000922, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, spindle pole, GO:0043022, GO:0019843, GO:0008017, GO:0005515, GO:0003723, ribosome binding, rRNA binding, microtubule binding, protein binding, RNA binding, GO:0048539, GO:0042256, GO:0030595, GO:0030282, GO:0007052, GO:0006364, GO:0002244, GO:0001833, bone marrow development, mature ribosome assembly, leukocyte chemotaxis, bone mineralization, mitotic spindle organization, rRNA processing, hematopoietic progenitor cell differentiation, inner cell mass cell proliferation, 567 551 658 486 563 656 470 527 613 ENSG00000126545 chr4 69931081 69946574 + CSN1S1 protein_coding 1446 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, protein binding, GO:1903496, GO:1903494, GO:0055085, GO:0032570, GO:0032355, response to 11-deoxycorticosterone, response to dehydroepiandrosterone, transmembrane transport, response to progesterone, response to estradiol, 0 2 0 0 2 0 0 1 0 ENSG00000126549 chr4 69995930 70002570 + STATH protein_coding 6779 GO:0005576, extracellular region, GO:0046848, GO:0030345, GO:0030197, GO:0005515, hydroxyapatite binding, structural constituent of tooth enamel, extracellular matrix constituent, lubricant activity, protein binding, GO:0046541, GO:0042742, GO:0031214, GO:0030502, GO:0001503, saliva secretion, defense response to bacterium, biomineral tissue development, negative regulation of bone mineralization, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000126550 chr4 70050402 70058845 + HTN1 protein_coding This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Aug 2014]. 3346 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0005515, protein binding, GO:0050832, GO:0042742, GO:0031640, GO:0031214, GO:0019730, defense response to fungus, defense response to bacterium, killing of cells of other organism, biomineral tissue development, antimicrobial humoral response, 0 0 0 0 0 0 0 0 0 ENSG00000126561 chr17 42287547 42311943 + STAT5A protein_coding The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. 6776 GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0000785, GO:0000785, cytosol, cytosol, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060397, GO:0060397, GO:0043536, GO:0043434, GO:0042127, GO:0040014, GO:0038113, GO:0038111, GO:0038110, GO:0038026, GO:0035723, GO:0019530, GO:0019221, GO:0019221, GO:0007595, GO:0007259, GO:0006952, GO:0006357, GO:0006357, GO:0001938, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway via JAK-STAT, positive regulation of blood vessel endothelial cell migration, response to peptide hormone, regulation of cell population proliferation, regulation of multicellular organism growth, interleukin-9-mediated signaling pathway, interleukin-7-mediated signaling pathway, interleukin-2-mediated signaling pathway, reelin-mediated signaling pathway, interleukin-15-mediated signaling pathway, taurine metabolic process, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, lactation, receptor signaling pathway via JAK-STAT, defense response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, positive regulation of endothelial cell proliferation, 1322 1576 1541 1219 1808 1477 1337 1410 1290 ENSG00000126562 chr17 42780678 42796936 + WNK4 protein_coding This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]. 65266 GO:0016020, GO:0005923, GO:0005829, GO:0005829, GO:0005737, membrane, bicellular tight junction, cytosol, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0019870, GO:0019869, GO:0019869, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, potassium channel inhibitor activity, chloride channel inhibitor activity, chloride channel inhibitor activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000651, GO:1903288, GO:0090188, GO:0072156, GO:0070294, GO:0070294, GO:0050801, GO:0050801, GO:0050794, GO:0035556, GO:0035556, GO:0010766, GO:0010766, GO:0008104, GO:0006821, GO:0006811, GO:0006468, GO:0006468, positive regulation of sodium ion transmembrane transporter activity, positive regulation of potassium ion import across plasma membrane, negative regulation of pancreatic juice secretion, distal tubule morphogenesis, renal sodium ion absorption, renal sodium ion absorption, ion homeostasis, ion homeostasis, regulation of cellular process, intracellular signal transduction, intracellular signal transduction, negative regulation of sodium ion transport, negative regulation of sodium ion transport, protein localization, chloride transport, ion transport, protein phosphorylation, protein phosphorylation, 0 3 2 5 7 2 2 1 10 ENSG00000126581 chr17 42810134 42833350 - BECN1 protein_coding This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex which mediates vesicle-trafficking processes. This protein is thought to play a role in multiple cellular processes, including tumorigenesis, neurodegeneration and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 8678 GO:0035032, GO:0034272, GO:0034271, GO:0031966, GO:0019898, GO:0010008, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0005776, GO:0005768, GO:0005739, GO:0005634, GO:0000407, phosphatidylinositol 3-kinase complex, class III, phosphatidylinositol 3-kinase complex, class III, type II, phosphatidylinositol 3-kinase complex, class III, type I, mitochondrial membrane, extrinsic component of membrane, endosome membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, autophagosome, endosome, mitochondrion, nucleus, phagophore assembly site, GO:0051020, GO:0043548, GO:0031625, GO:0019901, GO:0005515, GTPase binding, phosphatidylinositol 3-kinase binding, ubiquitin protein ligase binding, protein kinase binding, protein binding, GO:2001244, GO:2001244, GO:1902425, GO:0098780, GO:0060548, GO:0051607, GO:0051301, GO:0045324, GO:0045022, GO:0043066, GO:0042149, GO:0032801, GO:0032465, GO:0016579, GO:0016236, GO:0016236, GO:0016032, GO:0014068, GO:0007080, GO:0006995, GO:0006968, GO:0006915, GO:0006914, GO:0006914, GO:0006897, GO:0000423, GO:0000422, GO:0000045, GO:0000045, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of attachment of mitotic spindle microtubules to kinetochore, response to mitochondrial depolarisation, negative regulation of cell death, defense response to virus, cell division, late endosome to vacuole transport, early endosome to late endosome transport, negative regulation of apoptotic process, cellular response to glucose starvation, receptor catabolic process, regulation of cytokinesis, protein deubiquitination, macroautophagy, macroautophagy, viral process, positive regulation of phosphatidylinositol 3-kinase signaling, mitotic metaphase plate congression, cellular response to nitrogen starvation, cellular defense response, apoptotic process, autophagy, autophagy, endocytosis, mitophagy, autophagy of mitochondrion, autophagosome assembly, autophagosome assembly, 936 972 1070 480 771 692 519 712 611 ENSG00000126583 chr19 53879190 53907652 + PRKCG protein_coding Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5582 GO:0099524, GO:0099523, GO:0097060, GO:0048471, GO:0044305, GO:0030425, GO:0014069, GO:0005911, GO:0005886, GO:0005829, GO:0005829, GO:0005634, postsynaptic cytosol, presynaptic cytosol, synaptic membrane, perinuclear region of cytoplasm, calyx of Held, dendrite, postsynaptic density, cell-cell junction, plasma membrane, cytosol, cytosol, nucleus, GO:0008270, GO:0005524, GO:0005515, GO:0004712, GO:0004698, GO:0004697, GO:0004674, GO:0004672, zinc ion binding, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, calcium-dependent protein kinase C activity, protein kinase C activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000300, GO:1990911, GO:1901799, GO:0099171, GO:0060384, GO:0050764, GO:0048511, GO:0048265, GO:0046777, GO:0043524, GO:0043278, GO:0042752, GO:0042177, GO:0035556, GO:0032425, GO:0032095, GO:0031397, GO:0030168, GO:0018105, GO:0016310, GO:0007635, GO:0007611, GO:0007268, GO:0006468, regulation of synaptic vesicle exocytosis, response to psychosocial stress, negative regulation of proteasomal protein catabolic process, presynaptic modulation of chemical synaptic transmission, innervation, regulation of phagocytosis, rhythmic process, response to pain, protein autophosphorylation, negative regulation of neuron apoptotic process, response to morphine, regulation of circadian rhythm, negative regulation of protein catabolic process, intracellular signal transduction, positive regulation of mismatch repair, regulation of response to food, negative regulation of protein ubiquitination, platelet activation, peptidyl-serine phosphorylation, phosphorylation, chemosensory behavior, learning or memory, chemical synaptic transmission, protein phosphorylation, 8 11 2 7 10 7 3 8 12 ENSG00000126602 chr16 3651639 3717597 - TRAP1 protein_coding This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 10131 GO:0016020, GO:0005759, GO:0005758, GO:0005743, GO:0005743, GO:0005739, GO:0005654, membrane, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0051082, GO:0019901, GO:0019901, GO:0005524, GO:0005515, GO:0005164, GO:0003723, unfolded protein binding, protein kinase binding, protein kinase binding, ATP binding, protein binding, tumor necrosis factor receptor binding, RNA binding, GO:1903751, GO:1903427, GO:1901856, GO:0061077, GO:0009386, GO:0006457, negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide, negative regulation of reactive oxygen species biosynthetic process, negative regulation of cellular respiration, chaperone-mediated protein folding, translational attenuation, protein folding, 70 72 106 154 122 236 120 89 108 ENSG00000126603 chr16 4314761 4339597 + GLIS2 protein_coding This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]. 84662 GO:0097730, GO:0016607, GO:0005737, GO:0005634, GO:0005634, non-motile cilium, nuclear speck, cytoplasm, nucleus, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1900182, GO:0061005, GO:0060994, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045879, GO:0043433, GO:0007417, GO:0006357, GO:0000122, GO:0000122, positive regulation of protein localization to nucleus, cell differentiation involved in kidney development, regulation of transcription from RNA polymerase II promoter involved in kidney development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of smoothened signaling pathway, negative regulation of DNA-binding transcription factor activity, central nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 3 0 6 4 2 0 0 ENSG00000126653 chr17 30115521 30186475 + NSRP1 protein_coding 84081 GO:1990904, GO:0016607, GO:0005654, GO:0005634, ribonucleoprotein complex, nuclear speck, nucleoplasm, nucleus, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0032502, GO:0008380, GO:0006397, GO:0001701, GO:0000381, developmental process, RNA splicing, mRNA processing, in utero embryonic development, regulation of alternative mRNA splicing, via spliceosome, 335 292 396 274 296 316 261 204 234 ENSG00000126698 chr1 28199456 28233025 - DNAJC8 protein_coding 22826 GO:0045171, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intercellular bridge, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0030544, GO:0005515, Hsp70 protein binding, protein binding, GO:0000398, mRNA splicing, via spliceosome, 397 326 400 912 748 749 671 529 378 ENSG00000126705 chr1 27534035 27604431 - AHDC1 protein_coding This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]. 27245 GO:0005515, GO:0003677, protein binding, DNA binding, 64 84 100 57 47 54 33 21 34 ENSG00000126709 chr1 27666061 27672218 - IFI6 protein_coding This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008]. 2537 GO:0031966, GO:0016021, GO:0005886, GO:0005743, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, plasma membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:2001240, GO:2001240, GO:0098586, GO:0097193, GO:0097190, GO:0072593, GO:0060337, GO:0051902, GO:0051902, GO:0051607, GO:0045087, GO:0043154, GO:0043154, GO:0043066, GO:0042058, GO:0006955, GO:0006915, GO:0001836, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, cellular response to virus, intrinsic apoptotic signaling pathway, apoptotic signaling pathway, reactive oxygen species metabolic process, type I interferon signaling pathway, negative regulation of mitochondrial depolarization, negative regulation of mitochondrial depolarization, defense response to virus, innate immune response, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, regulation of epidermal growth factor receptor signaling pathway, immune response, apoptotic process, release of cytochrome c from mitochondria, 492 477 803 116 379 342 182 336 222 ENSG00000126733 chrX 86148458 86832604 + DACH2 protein_coding This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. 117154 GO:0005667, GO:0005634, transcription regulator complex, nucleus, GO:0003677, GO:0000981, GO:0000978, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0046545, GO:0006357, development of primary female sexual characteristics, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000126746 chr12 6666477 6689572 - ZNF384 protein_coding This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]. 171017 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0001228, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 658 669 600 516 590 514 507 529 378 ENSG00000126749 chr12 6970893 6997428 + EMG1 protein_coding This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 10436 GO:0032040, GO:0005737, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, small-subunit processome, cytoplasm, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0070037, GO:0070037, GO:0042802, GO:0019843, GO:0005515, GO:0003723, GO:0003723, rRNA (pseudouridine) methyltransferase activity, rRNA (pseudouridine) methyltransferase activity, identical protein binding, rRNA binding, protein binding, RNA binding, RNA binding, GO:0070475, GO:0042274, GO:0017126, GO:0006364, GO:0006364, GO:0001824, rRNA base methylation, ribosomal small subunit biogenesis, nucleologenesis, rRNA processing, rRNA processing, blastocyst development, 386 357 467 353 365 438 370 307 380 ENSG00000126752 chrX 48255317 48267444 + SSX1 protein_coding The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2013]. 6756 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, GO:0003714, protein binding, transcription corepressor activity, GO:0000122, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000126756 chrX 47651798 47659161 - UXT protein_coding The protein encoded by this gene functions as a cofactor that modulates androgen receptor-dependent transcription, and also plays a critical role in tumor necrosis factor-induced apoptosis. Expression of this gene may play a role in tumorigenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 8409 GO:0016592, GO:0005856, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0000930, GO:0000930, GO:0000922, GO:0000785, mediator complex, cytoskeleton, centrosome, cytoplasm, nucleoplasm, nucleus, gamma-tubulin complex, gamma-tubulin complex, spindle pole, chromatin, GO:0051015, GO:0048487, GO:0048487, GO:0008017, GO:0005515, GO:0003714, GO:0003714, GO:0003712, GO:0003682, actin filament binding, beta-tubulin binding, beta-tubulin binding, microtubule binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription coregulator activity, chromatin binding, GO:0070317, GO:0047497, GO:0045944, GO:0007098, GO:0007098, GO:0006915, GO:0000226, GO:0000122, negative regulation of G0 to G1 transition, mitochondrion transport along microtubule, positive regulation of transcription by RNA polymerase II, centrosome cycle, centrosome cycle, apoptotic process, microtubule cytoskeleton organization, negative regulation of transcription by RNA polymerase II, 179 102 166 208 157 239 161 183 184 ENSG00000126759 chrX 47623172 47630305 - CFP protein_coding This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]. 5199 GO:1904724, GO:0062023, GO:0035580, GO:0005788, GO:0005615, GO:0005576, tertiary granule lumen, collagen-containing extracellular matrix, specific granule lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0005515, protein binding, GO:0043312, GO:0042742, GO:0030449, GO:0006957, GO:0006956, GO:0006955, neutrophil degranulation, defense response to bacterium, regulation of complement activation, complement activation, alternative pathway, complement activation, immune response, 1846 2217 4192 558 1583 1218 773 1432 1259 ENSG00000126767 chrX 47635521 47650604 - ELK1 protein_coding This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012]. 2002 GO:0043679, GO:0043025, GO:0030425, GO:0005739, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, axon terminus, neuronal cell body, dendrite, mitochondrion, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0001085, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901216, GO:0071774, GO:0071480, GO:0071394, GO:0045944, GO:0045944, GO:0045893, GO:0030154, GO:0009416, GO:0006357, positive regulation of neuron death, response to fibroblast growth factor, cellular response to gamma radiation, cellular response to testosterone stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, cell differentiation, response to light stimulus, regulation of transcription by RNA polymerase II, 76 78 162 127 101 109 87 95 95 ENSG00000126768 chrX 48893447 48898143 - TIMM17B protein_coding This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 10245 GO:0031305, GO:0031305, GO:0005744, GO:0005744, GO:0005743, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, TIM23 mitochondrial import inner membrane translocase complex, TIM23 mitochondrial import inner membrane translocase complex, mitochondrial inner membrane, GO:0015450, GO:0008320, GO:0005515, P-P-bond-hydrolysis-driven protein transmembrane transporter activity, protein transmembrane transporter activity, protein binding, GO:0030150, GO:0006626, protein import into mitochondrial matrix, protein targeting to mitochondrion, 326 273 376 179 324 218 215 229 191 ENSG00000126773 chr14 60091911 60169133 + PCNX4 protein_coding 64430 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1002 590 946 561 556 492 554 443 410 ENSG00000126775 chr14 55366392 55411858 - ATG14 protein_coding 22863 GO:0097632, GO:0097632, GO:0097629, GO:0097629, GO:0045335, GO:0044233, GO:0035032, GO:0035032, GO:0034045, GO:0034045, GO:0005930, GO:0005829, GO:0005789, GO:0005776, GO:0005776, GO:0000421, extrinsic component of phagophore assembly site membrane, extrinsic component of phagophore assembly site membrane, extrinsic component of omegasome membrane, extrinsic component of omegasome membrane, phagocytic vesicle, mitochondria-associated endoplasmic reticulum membrane, phosphatidylinositol 3-kinase complex, class III, phosphatidylinositol 3-kinase complex, class III, phagophore assembly site membrane, phagophore assembly site membrane, axoneme, cytosol, endoplasmic reticulum membrane, autophagosome, autophagosome, autophagosome membrane, GO:0051020, GO:0005515, GTPase binding, protein binding, GO:0098780, GO:0090207, GO:0061635, GO:0043552, GO:0043552, GO:0042149, GO:0016240, GO:0016236, GO:0016236, GO:0010608, GO:0009267, GO:0009267, GO:0008333, GO:0001934, GO:0001933, GO:0001932, GO:0000423, GO:0000423, GO:0000045, GO:0000045, response to mitochondrial depolarisation, regulation of triglyceride metabolic process, regulation of protein complex stability, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of phosphatidylinositol 3-kinase activity, cellular response to glucose starvation, autophagosome membrane docking, macroautophagy, macroautophagy, posttranscriptional regulation of gene expression, cellular response to starvation, cellular response to starvation, endosome to lysosome transport, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, regulation of protein phosphorylation, mitophagy, mitophagy, autophagosome assembly, autophagosome assembly, 91 80 143 130 110 184 101 103 104 ENSG00000126777 chr14 55559072 55701526 + KTN1 protein_coding This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]. 3895 GO:0030176, GO:0016021, GO:0016020, GO:0005887, GO:0005789, GO:0005788, GO:0005783, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, integral component of plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0045296, GO:0019894, GO:0005515, GO:0003723, cadherin binding, kinesin binding, protein binding, RNA binding, GO:0044267, GO:0043687, GO:0015031, GO:0007018, cellular protein metabolic process, post-translational protein modification, protein transport, microtubule-based movement, 309 282 450 490 253 574 460 222 436 ENSG00000126778 chr14 60643415 60658259 - SIX1 protein_coding The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]. 6495 GO:0005737, GO:0005730, GO:0005667, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleolus, transcription regulator complex, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003700, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001228, GO:0001223, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, transcription coactivator binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001014, GO:2000729, GO:1905243, GO:0090336, GO:0090190, GO:0090103, GO:0072513, GO:0072193, GO:0072172, GO:0072107, GO:0072095, GO:0072075, GO:0071599, GO:0061551, GO:0061197, GO:0061055, GO:0060037, GO:0051451, GO:0050678, GO:0048839, GO:0048741, GO:0048704, GO:0048701, GO:0048699, GO:0048665, GO:0048538, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045664, GO:0043524, GO:0042474, GO:0042472, GO:0035909, GO:0034504, GO:0032880, GO:0030910, GO:0030878, GO:0030855, GO:0021610, GO:0014857, GO:0014842, GO:0008582, GO:0007605, GO:0007519, GO:0007389, GO:0006915, GO:0006357, GO:0006355, GO:0003151, GO:0001822, GO:0001759, GO:0001658, GO:0001657, GO:0000122, regulation of skeletal muscle cell differentiation, positive regulation of mesenchymal cell proliferation involved in ureter development, cellular response to 3,3',5-triiodo-L-thyronine, positive regulation of brown fat cell differentiation, positive regulation of branching involved in ureteric bud morphogenesis, cochlea morphogenesis, positive regulation of secondary heart field cardioblast proliferation, ureter smooth muscle cell differentiation, mesonephric tubule formation, positive regulation of ureteric bud formation, regulation of branch elongation involved in ureteric bud branching, metanephric mesenchyme development, otic vesicle development, trigeminal ganglion development, fungiform papilla morphogenesis, myotome development, pharyngeal system development, myoblast migration, regulation of epithelial cell proliferation, inner ear development, skeletal muscle fiber development, embryonic skeletal system morphogenesis, embryonic cranial skeleton morphogenesis, generation of neurons, neuron fate specification, thymus development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of neuron differentiation, negative regulation of neuron apoptotic process, middle ear morphogenesis, inner ear morphogenesis, aorta morphogenesis, protein localization to nucleus, regulation of protein localization, olfactory placode formation, thyroid gland development, epithelial cell differentiation, facial nerve morphogenesis, regulation of skeletal muscle cell proliferation, regulation of skeletal muscle satellite cell proliferation, regulation of synaptic growth at neuromuscular junction, sensory perception of sound, skeletal muscle tissue development, pattern specification process, apoptotic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, outflow tract morphogenesis, kidney development, organ induction, branching involved in ureteric bud morphogenesis, ureteric bud development, negative regulation of transcription by RNA polymerase II, 0 0 1 0 0 0 0 0 0 ENSG00000126785 chr14 63204114 63293219 + RHOJ protein_coding This gene encodes one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011]. 57381 GO:0070062, GO:0005886, GO:0005886, GO:0005829, extracellular exosome, plasma membrane, plasma membrane, cytosol, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:1903670, GO:0090050, GO:0061299, GO:0051056, GO:0032488, GO:0030036, GO:0030031, GO:0016477, GO:0010594, GO:0008360, GO:0006897, GO:0001525, regulation of sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, retina vasculature morphogenesis in camera-type eye, regulation of small GTPase mediated signal transduction, Cdc42 protein signal transduction, actin cytoskeleton organization, cell projection assembly, cell migration, regulation of endothelial cell migration, regulation of cell shape, endocytosis, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000126787 chr14 55148112 55191678 - DLGAP5 protein_coding 9787 GO:0034451, GO:0031616, GO:0031616, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005634, GO:0005634, centriolar satellite, spindle pole centrosome, spindle pole centrosome, cytosol, cytosol, mitochondrion, cytoplasm, nucleus, nucleus, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0051642, GO:0051382, GO:0045842, GO:0007346, GO:0007221, GO:0007079, GO:0007059, GO:0007052, centrosome localization, kinetochore assembly, positive regulation of mitotic metaphase/anaphase transition, regulation of mitotic cell cycle, positive regulation of transcription of Notch receptor target, mitotic chromosome movement towards spindle pole, chromosome segregation, mitotic spindle organization, 2 0 0 2 0 0 1 1 0 ENSG00000126790 chr14 59460363 59484430 - L3HYPDH protein_coding The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]. 112849 GO:0050346, GO:0018112, GO:0016836, GO:0016836, trans-L-3-hydroxyproline dehydratase activity, proline racemase activity, hydro-lyase activity, hydro-lyase activity, 9 14 14 44 13 55 16 17 29 ENSG00000126803 chr14 64535905 64546173 + HSPA2 protein_coding 3306 GO:0072687, GO:0072562, GO:0070062, GO:0036128, GO:0016020, GO:0009986, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0001673, GO:0000795, meiotic spindle, blood microparticle, extracellular exosome, CatSper complex, membrane, cell surface, plasma membrane, cytosol, cytosol, cytoplasm, nucleus, nucleus, male germ cell nucleus, synaptonemal complex, GO:0097718, GO:0051861, GO:0051787, GO:0051087, GO:0051082, GO:0051082, GO:0048156, GO:0044183, GO:0031072, GO:0019899, GO:0016887, GO:0005524, GO:0005515, disordered domain specific binding, glycolipid binding, misfolded protein binding, chaperone binding, unfolded protein binding, unfolded protein binding, tau protein binding, protein folding chaperone, heat shock protein binding, enzyme binding, ATPase activity, ATP binding, protein binding, GO:1901896, GO:0090084, GO:0070194, GO:0051085, GO:0042026, GO:0042026, GO:0034620, GO:0032781, GO:0016192, GO:0010971, GO:0009409, GO:0009408, GO:0007286, GO:0007283, GO:0007141, GO:0007140, GO:0001934, positive regulation of ATPase-coupled calcium transmembrane transporter activity, negative regulation of inclusion body assembly, synaptonemal complex disassembly, chaperone cofactor-dependent protein refolding, protein refolding, protein refolding, cellular response to unfolded protein, positive regulation of ATPase activity, vesicle-mediated transport, positive regulation of G2/M transition of mitotic cell cycle, response to cold, response to heat, spermatid development, spermatogenesis, male meiosis I, male meiotic nuclear division, positive regulation of protein phosphorylation, 11 15 22 120 143 102 39 57 70 ENSG00000126804 chr14 64503712 64533690 + ZBTB1 protein_coding 22890 GO:0031965, GO:0016604, GO:0005654, GO:0005654, GO:0005634, nuclear membrane, nuclear body, nucleoplasm, nucleoplasm, nucleus, GO:0070530, GO:0046982, GO:0046872, GO:0042803, GO:0005515, GO:0001227, GO:0000978, K63-linked polyubiquitin modification-dependent protein binding, protein heterodimerization activity, metal ion binding, protein homodimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000176, GO:0051260, GO:0048538, GO:0045582, GO:0045087, GO:0042789, GO:0034644, GO:0033077, GO:0032825, GO:0030183, GO:0019985, GO:0006974, GO:0006357, GO:0006338, GO:0006281, GO:0002711, GO:0000122, positive regulation of pro-T cell differentiation, protein homooligomerization, thymus development, positive regulation of T cell differentiation, innate immune response, mRNA transcription by RNA polymerase II, cellular response to UV, T cell differentiation in thymus, positive regulation of natural killer cell differentiation, B cell differentiation, translesion synthesis, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, chromatin remodeling, DNA repair, positive regulation of T cell mediated immunity, negative regulation of transcription by RNA polymerase II, 351 333 847 550 378 812 660 293 608 ENSG00000126814 chr14 60971451 60981358 - TRMT5 protein_coding tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]. 57570 GO:0005759, GO:0005759, GO:0005737, GO:0005634, mitochondrial matrix, mitochondrial matrix, cytoplasm, nucleus, GO:0052906, GO:0009019, GO:0008175, tRNA (guanine(37)-N(1))-methyltransferase activity, tRNA (guanine-N1-)-methyltransferase activity, tRNA methyltransferase activity, GO:0070901, GO:0070901, GO:0030488, GO:0002939, mitochondrial tRNA methylation, mitochondrial tRNA methylation, tRNA methylation, tRNA N1-guanine methylation, 3 3 7 63 39 86 45 18 61 ENSG00000126821 chr14 63684214 63728039 - SGPP1 protein_coding Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]. 81537 GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005789, GO:0005654, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, nucleoplasm, GO:0042392, GO:0042392, sphingosine-1-phosphate phosphatase activity, sphingosine-1-phosphate phosphatase activity, GO:0097193, GO:0097191, GO:0046839, GO:0045682, GO:0045616, GO:0035621, GO:0030148, GO:0006670, GO:0006668, intrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, phospholipid dephosphorylation, regulation of epidermis development, regulation of keratinocyte differentiation, ER to Golgi ceramide transport, sphingolipid biosynthetic process, sphingosine metabolic process, sphinganine-1-phosphate metabolic process, 85 57 83 98 39 109 67 40 70 ENSG00000126822 chr14 64704102 64750247 + PLEKHG3 protein_coding 26030 GO:0005085, guanyl-nucleotide exchange factor activity, 3517 5183 4438 3448 6766 4915 3948 4777 4717 ENSG00000126838 chr12 9148840 9208370 - PZP protein_coding The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer's disease patients. [provided by RefSeq, Dec 2016]. 5858 GO:0072562, GO:0070062, GO:0062023, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, extracellular region, GO:0004867, GO:0004866, GO:0004866, GO:0002020, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, endopeptidase inhibitor activity, protease binding, GO:0010951, GO:0007565, negative regulation of endopeptidase activity, female pregnancy, 1 0 7 11 2 12 25 2 8 ENSG00000126856 chr16 90056566 90092072 - PRDM7 protein_coding This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013]. 11105 GO:0005694, GO:0005634, chromosome, nucleus, GO:0046975, GO:0042800, GO:0042800, GO:0010844, GO:0005515, histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), recombination hotspot binding, protein binding, GO:0080182, GO:0010845, GO:0010468, GO:0010452, GO:0006355, histone H3-K4 trimethylation, positive regulation of reciprocal meiotic recombination, regulation of gene expression, histone H3-K36 methylation, regulation of transcription, DNA-templated, 0 0 1 0 0 8 0 0 0 ENSG00000126858 chr17 32142454 32253374 + RHOT1 protein_coding 55288 GO:0031307, GO:0031307, GO:0016020, GO:0005886, GO:0005829, GO:0005741, GO:0005739, integral component of mitochondrial outer membrane, integral component of mitochondrial outer membrane, membrane, plasma membrane, cytosol, mitochondrial outer membrane, mitochondrion, GO:0005525, GO:0005515, GO:0005509, GO:0003924, GO:0003674, GTP binding, protein binding, calcium ion binding, GTPase activity, molecular_function, GO:0097345, GO:0051056, GO:0047497, GO:0047497, GO:0019725, GO:0016579, GO:0010821, GO:0007005, mitochondrial outer membrane permeabilization, regulation of small GTPase mediated signal transduction, mitochondrion transport along microtubule, mitochondrion transport along microtubule, cellular homeostasis, protein deubiquitination, regulation of mitochondrion organization, mitochondrion organization, 424 475 403 417 644 456 459 461 385 ENSG00000126860 chr17 31317560 31321884 - EVI2A protein_coding 2123 GO:0016021, integral component of membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, 2425 2369 3516 354 1043 768 570 1024 747 ENSG00000126861 chr17 31272013 31297539 - OMG protein_coding 4974 GO:0031225, GO:0005886, anchored component of membrane, plasma membrane, GO:0050771, GO:0031102, GO:0007155, negative regulation of axonogenesis, neuron projection regeneration, cell adhesion, 97 101 115 89 195 160 107 89 131 ENSG00000126870 chr7 158856578 158956747 + WDR60 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]. 55112 GO:0097546, GO:0097546, GO:0097542, GO:0097014, GO:0031021, GO:0005929, GO:0005868, GO:0005868, GO:0005813, GO:0005813, GO:0005615, GO:0000922, GO:0000242, ciliary base, ciliary base, ciliary tip, ciliary plasm, interphase microtubule organizing center, cilium, cytoplasmic dynein complex, cytoplasmic dynein complex, centrosome, centrosome, extracellular space, spindle pole, pericentriolar material, GO:0045504, GO:0045503, GO:0045503, GO:0005515, dynein heavy chain binding, dynein light chain binding, dynein light chain binding, protein binding, GO:0060271, GO:0060271, GO:0048704, GO:0042073, GO:0035735, GO:0035721, GO:0007018, cilium assembly, cilium assembly, embryonic skeletal system morphogenesis, intraciliary transport, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, microtubule-based movement, 11 16 24 18 21 31 13 4 14 ENSG00000126878 chr9 131096476 131123152 + AIF1L protein_coding 83543 GO:0070062, GO:0032991, GO:0032587, GO:0015629, GO:0005925, GO:0005884, GO:0005884, GO:0005737, extracellular exosome, protein-containing complex, ruffle membrane, actin cytoskeleton, focal adhesion, actin filament, actin filament, cytoplasm, GO:0051015, GO:0051015, GO:0005509, actin filament binding, actin filament binding, calcium ion binding, GO:0097178, GO:0051017, ruffle assembly, actin filament bundle assembly, 2 0 0 1 0 0 1 0 0 ENSG00000126882 chr9 131258076 131276547 - FAM78A protein_coding 286336 GO:0005515, protein binding, 137 117 215 148 179 237 147 133 203 ENSG00000126883 chr9 131125561 131234670 + NUP214 protein_coding The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 8021 GO:1990876, GO:0043657, GO:0005829, GO:0005654, GO:0005643, cytoplasmic side of nuclear pore, host cell, cytosol, nucleoplasm, nuclear pore, GO:0017056, GO:0008139, GO:0005515, GO:0005049, structural constituent of nuclear pore, nuclear localization sequence binding, protein binding, nuclear export signal receptor activity, GO:1900034, GO:0075733, GO:0060964, GO:0051726, GO:0046822, GO:0043488, GO:0019083, GO:0016925, GO:0016032, GO:0006611, GO:0006606, GO:0006409, GO:0006406, GO:0006406, GO:0006405, GO:0006110, GO:0000278, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, regulation of cell cycle, regulation of nucleocytoplasmic transport, regulation of mRNA stability, viral transcription, protein sumoylation, viral process, protein export from nucleus, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, regulation of glycolytic process, mitotic cell cycle, 1326 1127 1334 695 1042 910 857 958 822 ENSG00000126890 chrX 154651972 154653579 - CTAG2 protein_coding This gene encodes an autoimmunogenic tumor antigen that belongs to the ESO/LAGE family of cancer-testis antigens. This protein is expressed in a wide array of cancers including melanoma, breast cancer, bladder cancer and prostate cancer. This protein is also expressed in normal testis tissue. An alternative open reading frame product of this gene has been described in PMID:10399963. This alternate protein, termed CAMEL, is a tumor antigen that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 30848 GO:0043231, GO:0016604, GO:0005813, GO:0005654, intracellular membrane-bounded organelle, nuclear body, centrosome, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0070525, GO:0045944, GO:0008150, tRNA threonylcarbamoyladenosine metabolic process, positive regulation of transcription by RNA polymerase II, biological_process, 0 0 1 0 0 14 0 0 0 ENSG00000126895 chrX 153902531 153907166 + AVPR2 protein_coding This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]. 554 GO:0048471, GO:0030665, GO:0030139, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005768, perinuclear region of cytoplasm, clathrin-coated vesicle membrane, endocytic vesicle, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, endosome, GO:0042277, GO:0005515, GO:0005000, GO:0005000, GO:0005000, GO:0004930, peptide binding, protein binding, vasopressin receptor activity, vasopressin receptor activity, vasopressin receptor activity, G protein-coupled receptor activity, GO:0061024, GO:0045907, GO:0035814, GO:0035811, GO:0034097, GO:0032609, GO:0031398, GO:0021537, GO:0010628, GO:0008285, GO:0008284, GO:0007599, GO:0007588, GO:0007249, GO:0007190, GO:0007188, GO:0007186, GO:0007186, GO:0003091, GO:0003084, GO:0001992, membrane organization, positive regulation of vasoconstriction, negative regulation of renal sodium excretion, negative regulation of urine volume, response to cytokine, interferon-gamma production, positive regulation of protein ubiquitination, telencephalon development, positive regulation of gene expression, negative regulation of cell population proliferation, positive regulation of cell population proliferation, hemostasis, excretion, I-kappaB kinase/NF-kappaB signaling, activation of adenylate cyclase activity, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, renal water homeostasis, positive regulation of systemic arterial blood pressure, regulation of systemic arterial blood pressure by vasopressin, 14 11 11 16 14 23 41 15 10 ENSG00000126903 chrX 154487306 154490690 - SLC10A3 protein_coding This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008]. 8273 GO:0016021, integral component of membrane, GO:0008508, bile acid:sodium symporter activity, GO:0055085, GO:0032526, GO:0015721, transmembrane transport, response to retinoic acid, bile acid and bile salt transport, 237 247 259 110 170 104 143 126 141 ENSG00000126934 chr19 4090321 4124129 - MAP2K2 protein_coding The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]. 5605 GO:0048471, GO:0009898, GO:0005925, GO:0005911, GO:0005874, GO:0005829, GO:0005794, GO:0005794, GO:0005783, GO:0005778, GO:0005770, GO:0005769, GO:0005739, GO:0005634, GO:0005576, perinuclear region of cytoplasm, cytoplasmic side of plasma membrane, focal adhesion, cell-cell junction, microtubule, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, peroxisomal membrane, late endosome, early endosome, mitochondrion, nucleus, extracellular region, GO:0097110, GO:0046872, GO:0043539, GO:0030165, GO:0005524, GO:0005515, GO:0005078, GO:0004713, GO:0004712, GO:0004708, GO:0004708, GO:0004674, scaffold protein binding, metal ion binding, protein serine/threonine kinase activator activity, PDZ domain binding, ATP binding, protein binding, MAP-kinase scaffold activity, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, MAP kinase kinase activity, MAP kinase kinase activity, protein serine/threonine kinase activity, GO:2000641, GO:1903800, GO:0090170, GO:0071902, GO:0070371, GO:0070371, GO:0045893, GO:0036289, GO:0032872, GO:0018108, GO:0010629, GO:0000187, GO:0000187, GO:0000165, regulation of early endosome to late endosome transport, positive regulation of production of miRNAs involved in gene silencing by miRNA, regulation of Golgi inheritance, positive regulation of protein serine/threonine kinase activity, ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, positive regulation of transcription, DNA-templated, peptidyl-serine autophosphorylation, regulation of stress-activated MAPK cascade, peptidyl-tyrosine phosphorylation, negative regulation of gene expression, activation of MAPK activity, activation of MAPK activity, MAPK cascade, 1107 1158 1450 712 1099 1025 827 890 922 ENSG00000126945 chrX 101408295 101414133 + HNRNPH2 protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011]. 3188 GO:1990904, GO:1990904, GO:0016020, GO:0005829, GO:0005654, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, membrane, cytosol, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0043484, GO:0016070, GO:0000398, regulation of RNA splicing, RNA metabolic process, mRNA splicing, via spliceosome, 3345 2976 3280 1297 1773 1765 1454 1595 1583 ENSG00000126947 chrX 101550531 101554700 + ARMCX1 protein_coding This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]. 51309 GO:0016021, GO:0005741, GO:0005739, integral component of membrane, mitochondrial outer membrane, mitochondrion, GO:0005515, protein binding, 1 0 2 4 10 9 8 6 2 ENSG00000126950 chrX 101078720 101096364 + TMEM35A protein_coding 59353 GO:0031410, GO:0016021, GO:0005778, GO:0005575, cytoplasmic vesicle, integral component of membrane, peroxisomal membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000126952 chrX 101832112 101857577 - NXF5 protein_coding This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009]. 55998 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0050658, GO:0016973, GO:0007275, GO:0006406, RNA transport, poly(A)+ mRNA export from nucleus, multicellular organism development, mRNA export from nucleus, 0 0 1 0 0 0 1 0 0 ENSG00000126953 chrX 101345659 101349196 - TIMM8A protein_coding This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]. 1678 GO:0005758, GO:0005743, GO:0005739, GO:0005739, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0072321, GO:0007399, chaperone-mediated protein transport, nervous system development, 15 11 21 11 41 19 23 12 23 ENSG00000126970 chrX 64915802 65034713 - ZC4H2 protein_coding This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 55906 GO:0045211, GO:0005737, GO:0005634, GO:0005634, postsynaptic membrane, cytoplasm, nucleus, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0045666, GO:0045666, GO:0021522, GO:0007528, GO:0007399, positive regulation of neuron differentiation, positive regulation of neuron differentiation, spinal cord motor neuron differentiation, neuromuscular junction development, nervous system development, 5 3 6 13 5 15 8 1 3 ENSG00000127022 chr5 179678628 179730925 + CANX protein_coding This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2018]. 821 GO:0099059, GO:0098978, GO:0071556, GO:0070062, GO:0070062, GO:0044322, GO:0044233, GO:0043197, GO:0043025, GO:0042470, GO:0032991, GO:0032839, GO:0030424, GO:0016020, GO:0005840, GO:0005791, GO:0005790, GO:0005789, GO:0005789, GO:0005788, GO:0005783, integral component of presynaptic active zone membrane, glutamatergic synapse, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, extracellular exosome, endoplasmic reticulum quality control compartment, mitochondria-associated endoplasmic reticulum membrane, dendritic spine, neuronal cell body, melanosome, protein-containing complex, dendrite cytoplasm, axon, membrane, ribosome, rough endoplasmic reticulum, smooth endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0051082, GO:0035255, GO:0034185, GO:0030246, GO:0005515, GO:0005509, GO:0003723, unfolded protein binding, ionotropic glutamate receptor binding, apolipoprotein binding, carbohydrate binding, protein binding, calcium ion binding, RNA binding, GO:0072583, GO:0070757, GO:0070106, GO:0048488, GO:0034975, GO:0030968, GO:0019886, GO:0016032, GO:0009306, GO:0007568, GO:0006457, GO:0006457, GO:0002474, clathrin-dependent endocytosis, interleukin-35-mediated signaling pathway, interleukin-27-mediated signaling pathway, synaptic vesicle endocytosis, protein folding in endoplasmic reticulum, endoplasmic reticulum unfolded protein response, antigen processing and presentation of exogenous peptide antigen via MHC class II, viral process, protein secretion, aging, protein folding, protein folding, antigen processing and presentation of peptide antigen via MHC class I, 1065 1107 1735 754 661 1143 708 620 805 ENSG00000127054 chr1 1311585 1324691 - INTS11 protein_coding The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]. 54973 GO:0072562, GO:0032039, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, blood microparticle, integrator complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0016787, GO:0005515, GO:0005515, hydrolase activity, protein binding, protein binding, GO:0042795, GO:0016180, GO:0016180, snRNA transcription by RNA polymerase II, snRNA processing, snRNA processing, 522 647 571 677 764 761 671 580 543 ENSG00000127074 chr1 192636138 192660306 + RGS13 protein_coding The protein encoded by this gene is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which contain a characteristic conserved RGS domain. RGS proteins accelerate GTPase activity of G protein alpha-subunits, thereby driving G protein into their inactive GDP-bound form, thus negatively regulating G protein signaling. RGS proteins have been implicated in the fine tuning of a variety of cellular events in response to G protein-coupled receptor activation. The biological function of this gene, however, is unknown. Two transcript variants encoding the same isoform exist. [provided by RefSeq, Jul 2008]. 6003 GO:0005886, GO:0005829, GO:0005634, plasma membrane, cytosol, nucleus, GO:0005515, GO:0003924, protein binding, GTPase activity, GO:0045744, GO:0007186, negative regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 7 6 4 5 11 4 5 0 ENSG00000127080 chr9 92613184 92670265 - IPPK protein_coding The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]. 64768 GO:0005829, GO:0005730, GO:0005654, GO:0005634, cytosol, nucleolus, nucleoplasm, nucleus, GO:0060090, GO:0035299, GO:0035299, GO:0035299, GO:0005524, GO:0005515, molecular adaptor activity, inositol pentakisphosphate 2-kinase activity, inositol pentakisphosphate 2-kinase activity, inositol pentakisphosphate 2-kinase activity, ATP binding, protein binding, GO:1901838, GO:0052746, GO:0052746, GO:0043647, GO:0032958, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, inositol phosphorylation, inositol phosphorylation, inositol phosphate metabolic process, inositol phosphate biosynthetic process, 157 141 244 111 95 136 110 76 82 ENSG00000127081 chr9 92845031 92878038 - ZNF484 protein_coding 83744 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 64 76 56 103 75 70 110 64 39 ENSG00000127083 chr9 92414245 92424461 - OMD protein_coding 4958 GO:0070062, GO:0062023, GO:0043202, GO:0005796, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, lysosomal lumen, Golgi lumen, extracellular space, extracellular region, GO:0042340, GO:0030500, GO:0018146, GO:0007155, keratan sulfate catabolic process, regulation of bone mineralization, keratan sulfate biosynthetic process, cell adhesion, 0 1 0 0 0 0 0 0 0 ENSG00000127084 chr9 92947451 93036236 + FGD3 protein_coding 89846 GO:0030027, GO:0005856, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0001726, lamellipodium, cytoskeleton, cytosol, Golgi apparatus, cytoplasm, cytoplasm, ruffle, GO:0046872, GO:0031267, GO:0005085, GO:0005085, metal ion binding, small GTPase binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0046847, GO:0046847, GO:0043087, GO:0043065, GO:0030036, GO:0008360, GO:0007186, GO:0007010, GO:0007010, regulation of small GTPase mediated signal transduction, filopodium assembly, filopodium assembly, regulation of GTPase activity, positive regulation of apoptotic process, actin cytoskeleton organization, regulation of cell shape, G protein-coupled receptor signaling pathway, cytoskeleton organization, cytoskeleton organization, 5862 7211 7922 5268 7772 6253 5288 5549 5312 ENSG00000127124 chr1 41506365 42035925 - HIVEP3 protein_coding This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]. 59269 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0046872, GO:0003677, GO:0000981, GO:0000978, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0035914, GO:0006357, positive regulation of transcription, DNA-templated, skeletal muscle cell differentiation, regulation of transcription by RNA polymerase II, 14 15 54 33 17 37 29 12 46 ENSG00000127125 chr1 42456117 42473385 + PPCS protein_coding Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]. 79717 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0042803, GO:0042802, GO:0005524, GO:0004632, GO:0004632, GO:0004632, protein homodimerization activity, identical protein binding, ATP binding, phosphopantothenate--cysteine ligase activity, phosphopantothenate--cysteine ligase activity, phosphopantothenate--cysteine ligase activity, GO:0015937, GO:0015937, GO:0015937, GO:0015937, GO:0006085, GO:0003015, coenzyme A biosynthetic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, acetyl-CoA biosynthetic process, heart process, 197 167 263 102 176 157 106 173 123 ENSG00000127129 chr1 41478775 41484673 - EDN2 protein_coding This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 1907 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0031708, GO:0031708, GO:0005179, GO:0005179, endothelin B receptor binding, endothelin B receptor binding, hormone activity, hormone activity, GO:0097009, GO:0060585, GO:0060585, GO:0048286, GO:0048246, GO:0048016, GO:0045987, GO:0042310, GO:0042116, GO:0030593, GO:0019722, GO:0019229, GO:0019221, GO:0014826, GO:0014826, GO:0014824, GO:0010460, GO:0008284, GO:0007204, GO:0007186, GO:0007166, GO:0006874, GO:0003100, GO:0003100, GO:0003099, GO:0003058, GO:0002690, GO:0001659, GO:0001516, energy homeostasis, positive regulation of prostaglandin-endoperoxide synthase activity, positive regulation of prostaglandin-endoperoxide synthase activity, lung alveolus development, macrophage chemotaxis, inositol phosphate-mediated signaling, positive regulation of smooth muscle contraction, vasoconstriction, macrophage activation, neutrophil chemotaxis, calcium-mediated signaling, regulation of vasoconstriction, cytokine-mediated signaling pathway, vein smooth muscle contraction, vein smooth muscle contraction, artery smooth muscle contraction, positive regulation of heart rate, positive regulation of cell population proliferation, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cellular calcium ion homeostasis, regulation of systemic arterial blood pressure by endothelin, regulation of systemic arterial blood pressure by endothelin, positive regulation of the force of heart contraction by chemical signal, hormonal regulation of the force of heart contraction, positive regulation of leukocyte chemotaxis, temperature homeostasis, prostaglandin biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000127152 chr14 99169287 99271524 - BCL11B protein_coding This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]. 64919 GO:0043005, GO:0005634, neuron projection, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0001228, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097535, GO:0071678, GO:0048538, GO:0046632, GO:0045944, GO:0045944, GO:0045664, GO:0043368, GO:0043066, GO:0042475, GO:0035701, GO:0033153, GO:0033077, GO:0031077, GO:0021902, GO:0021773, GO:0019216, GO:0010837, GO:0008285, GO:0006357, GO:0003382, GO:0003334, lymphoid lineage cell migration into thymus, olfactory bulb axon guidance, thymus development, alpha-beta T cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of neuron differentiation, positive T cell selection, negative regulation of apoptotic process, odontogenesis of dentin-containing tooth, hematopoietic stem cell migration, T cell receptor V(D)J recombination, T cell differentiation in thymus, post-embryonic camera-type eye development, commitment of neuronal cell to specific neuron type in forebrain, striatal medium spiny neuron differentiation, regulation of lipid metabolic process, regulation of keratinocyte proliferation, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, epithelial cell morphogenesis, keratinocyte development, 170 111 257 267 86 338 236 80 286 ENSG00000127184 chr5 86617904 86620962 + COX7C protein_coding Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]. 1350 GO:0016021, GO:0005751, GO:0005743, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex IV, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0006123, GO:0006123, GO:0006091, proton transmembrane transport, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, generation of precursor metabolites and energy, 111 57 129 205 127 219 139 124 167 ENSG00000127191 chr9 136881912 136926607 + TRAF2 protein_coding The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]. 7186 GO:1990604, GO:0098802, GO:0097057, GO:0045121, GO:0035631, GO:0012506, GO:0009898, GO:0009898, GO:0005938, GO:0005829, GO:0005829, GO:0005654, GO:0002947, GO:0000151, IRE1-TRAF2-ASK1 complex, plasma membrane signaling receptor complex, TRAF2-GSTP1 complex, membrane raft, CD40 receptor complex, vesicle membrane, cytoplasmic side of plasma membrane, cytoplasmic side of plasma membrane, cell cortex, cytosol, cytosol, nucleoplasm, tumor necrosis factor receptor superfamily complex, ubiquitin ligase complex, GO:0046625, GO:0044877, GO:0043120, GO:0042802, GO:0031996, GO:0031625, GO:0031625, GO:0031435, GO:0030674, GO:0019903, GO:0019901, GO:0019899, GO:0008270, GO:0005515, GO:0005174, GO:0005164, GO:0005164, GO:0004842, GO:0004842, sphingolipid binding, protein-containing complex binding, tumor necrosis factor binding, identical protein binding, thioesterase binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, mitogen-activated protein kinase kinase kinase binding, protein-macromolecule adaptor activity, protein phosphatase binding, protein kinase binding, enzyme binding, zinc ion binding, protein binding, CD40 receptor binding, tumor necrosis factor receptor binding, tumor necrosis factor receptor binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2001238, GO:1903721, GO:1903265, GO:1902042, GO:1902041, GO:1901215, GO:0097300, GO:0071732, GO:0071550, GO:0070534, GO:0070534, GO:0070059, GO:0065003, GO:0051865, GO:0051865, GO:0051092, GO:0051092, GO:0051091, GO:0046330, GO:0043507, GO:0043254, GO:0043123, GO:0043122, GO:0042981, GO:0034976, GO:0034622, GO:0034351, GO:0033209, GO:0033209, GO:0033209, GO:0032743, GO:0030163, GO:0016579, GO:0010803, GO:0007250, GO:0007249, GO:0007165, GO:0006919, GO:0002726, GO:0002637, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of I-kappaB phosphorylation, positive regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of neuron death, programmed necrotic cell death, cellular response to nitric oxide, death-inducing signaling complex assembly, protein K63-linked ubiquitination, protein K63-linked ubiquitination, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, protein-containing complex assembly, protein autoubiquitination, protein autoubiquitination, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of JNK cascade, positive regulation of JUN kinase activity, regulation of protein-containing complex assembly, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, response to endoplasmic reticulum stress, cellular protein-containing complex assembly, negative regulation of glial cell apoptotic process, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, positive regulation of interleukin-2 production, protein catabolic process, protein deubiquitination, regulation of tumor necrosis factor-mediated signaling pathway, activation of NF-kappaB-inducing kinase activity, I-kappaB kinase/NF-kappaB signaling, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of T cell cytokine production, regulation of immunoglobulin production, 43 42 70 71 61 62 64 50 60 ENSG00000127220 chr19 17292131 17310236 - ABHD8 protein_coding This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]. 79575 GO:0070062, GO:0005739, extracellular exosome, mitochondrion, GO:0052689, GO:0042171, GO:0005515, carboxylic ester hydrolase activity, lysophosphatidic acid acyltransferase activity, protein binding, GO:0055088, GO:0006654, lipid homeostasis, phosphatidic acid biosynthetic process, 31 38 51 23 46 42 32 26 11 ENSG00000127241 chr3 187217285 187292022 - MASP1 protein_coding This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]. 5648 GO:0005829, GO:0005654, GO:0005615, GO:0005615, GO:0005576, cytosol, nucleoplasm, extracellular space, extracellular space, extracellular region, GO:0048306, GO:0042803, GO:0008233, GO:0005515, GO:0005509, GO:0004252, GO:0004252, calcium-dependent protein binding, protein homodimerization activity, peptidase activity, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0006956, GO:0006898, GO:0006508, GO:0001867, GO:0001867, GO:0001867, complement activation, receptor-mediated endocytosis, proteolysis, complement activation, lectin pathway, complement activation, lectin pathway, complement activation, lectin pathway, 0 0 0 0 0 0 0 0 0 ENSG00000127249 chr3 193402077 193593111 - ATP13A4 protein_coding 84239 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0046872, GO:0016887, GO:0005524, metal ion binding, ATPase activity, ATP binding, GO:0034220, GO:0006874, GO:0006812, ion transmembrane transport, cellular calcium ion homeostasis, cation transport, 4 2 3 1 2 2 4 0 4 ENSG00000127252 chr3 193241125 193277738 + HRASLS protein_coding 57110 GO:0016021, GO:0005737, GO:0005737, GO:0005737, GO:0005641, GO:0005634, integral component of membrane, cytoplasm, cytoplasm, cytoplasm, nuclear envelope lumen, nucleus, GO:0102568, GO:0102567, GO:0052740, GO:0052739, GO:0016410, GO:0016410, GO:0008970, GO:0008970, GO:0008374, GO:0005515, GO:0004623, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, N-acyltransferase activity, N-acyltransferase activity, phospholipase A1 activity, phospholipase A1 activity, O-acyltransferase activity, protein binding, phospholipase A2 activity, phospholipase A2 activity, GO:0070292, GO:0070292, GO:0046470, GO:0016042, N-acylphosphatidylethanolamine metabolic process, N-acylphosphatidylethanolamine metabolic process, phosphatidylcholine metabolic process, lipid catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000127311 chr12 66302545 66347645 + HELB protein_coding This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 92797 GO:0035861, GO:0005737, GO:0005730, GO:0005662, GO:0005634, GO:0005622, site of double-strand break, cytoplasm, nucleolus, DNA replication factor A complex, nucleus, intracellular anatomical structure, GO:0044877, GO:0043139, GO:0017116, GO:0017116, GO:0005524, GO:0003723, protein-containing complex binding, 5'-3' DNA helicase activity, single-stranded DNA helicase activity, single-stranded DNA helicase activity, ATP binding, RNA binding, GO:2000042, GO:2000042, GO:1903775, GO:0032508, GO:0006974, GO:0006281, GO:0006269, GO:0006260, GO:0000462, negative regulation of double-strand break repair via homologous recombination, negative regulation of double-strand break repair via homologous recombination, regulation of DNA double-strand break processing, DNA duplex unwinding, cellular response to DNA damage stimulus, DNA repair, DNA replication, synthesis of RNA primer, DNA replication, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 107 92 246 186 83 247 168 60 194 ENSG00000127314 chr12 68610839 68671901 + RAP1B protein_coding This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]. 5908 GO:0070062, GO:0045121, GO:0035577, GO:0016020, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0005811, extracellular exosome, membrane raft, azurophil granule membrane, membrane, cell-cell junction, plasma membrane, plasma membrane, cytosol, lipid droplet, GO:0044877, GO:0019003, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, protein-containing complex binding, GDP binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:2000301, GO:2000114, GO:1901888, GO:0097211, GO:0071320, GO:0071320, GO:0070374, GO:0061028, GO:0045955, GO:0043312, GO:0035722, GO:0035690, GO:0033625, GO:0032486, GO:0032486, GO:0030033, GO:0009743, GO:0008283, negative regulation of synaptic vesicle exocytosis, regulation of establishment of cell polarity, regulation of cell junction assembly, cellular response to gonadotropin-releasing hormone, cellular response to cAMP, cellular response to cAMP, positive regulation of ERK1 and ERK2 cascade, establishment of endothelial barrier, negative regulation of calcium ion-dependent exocytosis, neutrophil degranulation, interleukin-12-mediated signaling pathway, cellular response to drug, positive regulation of integrin activation, Rap protein signal transduction, Rap protein signal transduction, microvillus assembly, response to carbohydrate, cell population proliferation, 2213 1918 2679 1110 1461 1566 1165 1314 1105 ENSG00000127318 chr12 68248242 68253604 - IL22 protein_coding This gene is a member of the IL10 family of cytokines that mediate cellular inflammatory responses. The encoded protein functions in antimicrobial defense at mucosal surfaces and in tissue repair. This protein also has pro-inflammatory properties and plays a role in in the pathogenesis of several intestinal diseases. [provided by RefSeq, Jul 2018]. 50616 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0045518, GO:0005515, GO:0005125, interleukin-22 receptor binding, protein binding, cytokine activity, GO:0051384, GO:0019221, GO:0006954, GO:0006953, response to glucocorticoid, cytokine-mediated signaling pathway, inflammatory response, acute-phase response, 0 0 0 0 0 0 1 0 0 ENSG00000127324 chr12 71125085 71441898 - TSPAN8 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]. 7103 GO:0070062, GO:0009986, GO:0005887, extracellular exosome, cell surface, integral component of plasma membrane, GO:0005515, GO:0005178, protein binding, integrin binding, GO:0030195, GO:0010468, GO:0007283, negative regulation of blood coagulation, regulation of gene expression, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000127325 chr12 69643360 69699476 - BEST3 protein_coding BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]. 144453 GO:0034707, GO:0005886, chloride channel complex, plasma membrane, GO:0005254, GO:0003674, chloride channel activity, molecular_function, GO:1902476, GO:0043271, GO:0008150, chloride transmembrane transport, negative regulation of ion transport, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000127328 chr12 69738681 69823204 + RAB3IP protein_coding 117177 GO:0070319, GO:0030027, GO:0005856, GO:0005829, GO:0005829, GO:0005634, Golgi to plasma membrane transport vesicle, lamellipodium, cytoskeleton, cytosol, cytosol, nucleus, GO:0005515, GO:0005085, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0097711, GO:0006887, GO:0006612, ciliary basal body-plasma membrane docking, exocytosis, protein targeting to membrane, 52 50 35 68 75 92 62 45 59 ENSG00000127329 chr12 70515866 70637440 - PTPRB protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 5787 GO:0070821, GO:0043235, GO:0043235, GO:0035579, GO:0005887, GO:0005886, tertiary granule membrane, receptor complex, receptor complex, specific granule membrane, integral component of plasma membrane, plasma membrane, GO:0045296, GO:0045296, GO:0005515, GO:0005001, cadherin binding, cadherin binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, GO:1990264, GO:0043312, GO:0016311, GO:0006796, GO:0006470, GO:0001525, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, neutrophil degranulation, dephosphorylation, phosphate-containing compound metabolic process, protein dephosphorylation, angiogenesis, 0 0 0 2 1 0 0 0 0 ENSG00000127334 chr12 67648338 67665406 + DYRK2 protein_coding DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]. 8445 GO:1990904, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000151, ribonucleoprotein complex, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, GO:0030145, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, GO:0004674, GO:0004674, GO:0000287, manganese ion binding, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:1901796, GO:0070885, GO:0045725, GO:0042771, GO:0018108, GO:0018107, GO:0018105, GO:0007224, GO:0006974, GO:0006468, regulation of signal transduction by p53 class mediator, negative regulation of calcineurin-NFAT signaling cascade, positive regulation of glycogen biosynthetic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, smoothened signaling pathway, cellular response to DNA damage stimulus, protein phosphorylation, 136 141 270 218 98 329 197 91 258 ENSG00000127337 chr12 69359703 69390796 + YEATS4 protein_coding The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. 8089 GO:0035267, GO:0031965, GO:0016363, GO:0005654, GO:0005654, NuA4 histone acetyltransferase complex, nuclear membrane, nuclear matrix, nucleoplasm, nucleoplasm, GO:0140030, GO:0070577, GO:0008022, GO:0005515, GO:0005200, modification-dependent protein binding, lysine-acetylated histone binding, protein C-terminus binding, protein binding, structural constituent of cytoskeleton, GO:0045944, GO:0045893, GO:0043968, GO:0043967, GO:0040008, GO:0007010, GO:0000278, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, histone H2A acetylation, histone H4 acetylation, regulation of growth, cytoskeleton organization, mitotic cell cycle, 25 13 25 25 22 24 21 16 23 ENSG00000127362 chr7 141764097 141765197 + TAS2R3 protein_coding This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. 50831 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 3 0 0 0 0 0 0 0 ENSG00000127364 chr7 141778442 141780819 + TAS2R4 protein_coding This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. 50832 GO:0060170, GO:0016021, GO:0016021, GO:0005886, ciliary membrane, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0007585, GO:0007186, GO:0001580, GO:0001580, respiratory gaseous exchange by respiratory system, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 1 1 1 0 2 2 5 1 0 ENSG00000127366 chr7 141790217 141791367 + TAS2R5 protein_coding This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. 54429 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0005515, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, protein binding, G protein-coupled receptor activity, GO:0007635, GO:0007186, GO:0001580, GO:0001580, chemosensory behavior, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 3 3 0 11 3 2 0 1 0 ENSG00000127377 chr7 151428835 151440813 - CRYGN protein_coding This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 155051 GO:0005212, structural constituent of eye lens, GO:0007601, GO:0002088, visual perception, lens development in camera-type eye, 0 0 0 1 0 2 0 0 0 ENSG00000127399 chr7 150322639 150338150 + LRRC61 protein_coding 65999 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005515, protein binding, 30 6 43 21 11 16 15 26 39 ENSG00000127412 chr7 142908101 142933808 - TRPV5 protein_coding This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]. 56302 GO:0016324, GO:0005887, GO:0005887, GO:0005886, apical plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0005516, GO:0005515, GO:0005262, GO:0005262, GO:0005262, GO:0005216, metal ion binding, calmodulin binding, protein binding, calcium channel activity, calcium channel activity, calcium channel activity, ion channel activity, GO:0098703, GO:0098703, GO:0070588, GO:0070588, GO:0055074, GO:0051289, GO:0035809, GO:0006816, GO:0006816, calcium ion import across plasma membrane, calcium ion import across plasma membrane, calcium ion transmembrane transport, calcium ion transmembrane transport, calcium ion homeostasis, protein homotetramerization, regulation of urine volume, calcium ion transport, calcium ion transport, 0 1 0 0 5 0 0 0 0 ENSG00000127415 chr4 986997 1004506 + IDUA protein_coding This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]. 3425 GO:0070062, GO:0043202, GO:0030135, extracellular exosome, lysosomal lumen, coated vesicle, GO:0005102, GO:0004553, GO:0003940, GO:0003940, GO:0003940, signaling receptor binding, hydrolase activity, hydrolyzing O-glycosyl compounds, L-iduronidase activity, L-iduronidase activity, L-iduronidase activity, GO:0030211, GO:0030209, GO:0030207, GO:0006027, GO:0005984, heparin catabolic process, dermatan sulfate catabolic process, chondroitin sulfate catabolic process, glycosaminoglycan catabolic process, disaccharide metabolic process, 15 13 24 26 8 25 19 13 30 ENSG00000127418 chr4 1009936 1026897 + FGFRL1 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]. 53834 GO:0044291, GO:0030133, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005794, cell-cell contact zone, transport vesicle, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0042802, GO:0017134, GO:0008201, GO:0008201, GO:0005007, GO:0005007, identical protein binding, fibroblast growth factor binding, heparin binding, heparin binding, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, GO:0098742, GO:0060539, GO:0060412, GO:0008543, GO:0008285, GO:0003179, GO:0001501, cell-cell adhesion via plasma-membrane adhesion molecules, diaphragm development, ventricular septum morphogenesis, fibroblast growth factor receptor signaling pathway, negative regulation of cell population proliferation, heart valve morphogenesis, skeletal system development, 14 16 39 41 15 34 53 4 24 ENSG00000127419 chr4 932387 958656 + TMEM175 protein_coding 84286 GO:0016021, GO:0010008, GO:0005768, GO:0005768, GO:0005765, GO:0005764, GO:0005764, integral component of membrane, endosome membrane, endosome, endosome, lysosomal membrane, lysosome, lysosome, GO:0022841, GO:0022841, GO:0005267, potassium ion leak channel activity, potassium ion leak channel activity, potassium channel activity, GO:0090385, GO:0071805, GO:0035751, phagosome-lysosome fusion, potassium ion transmembrane transport, regulation of lysosomal lumen pH, 315 366 361 361 417 363 423 342 332 ENSG00000127423 chr1 25831913 25859458 - AUNIP protein_coding 79000 GO:0090734, GO:0005813, GO:0005813, GO:0005737, GO:0005634, GO:0000922, GO:0000922, site of DNA damage, centrosome, centrosome, cytoplasm, nucleus, spindle pole, spindle pole, GO:0005515, GO:0003684, protein binding, damaged DNA binding, GO:2001033, GO:0007051, GO:0007051, GO:0000724, negative regulation of double-strand break repair via nonhomologous end joining, spindle organization, spindle organization, double-strand break repair via homologous recombination, 1 2 4 3 3 0 0 2 7 ENSG00000127445 chr19 9835257 9849682 + PIN1 protein_coding Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]. 5300 GO:0099524, GO:0098978, GO:0043005, GO:0036064, GO:0030496, GO:0016607, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, postsynaptic cytosol, glutamatergic synapse, neuron projection, ciliary basal body, midbody, nuclear speck, cytosol, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0051219, GO:0050816, GO:0050816, GO:0050815, GO:0048156, GO:0032794, GO:0031434, GO:0016859, GO:0008013, GO:0008013, GO:0005515, GO:0003774, GO:0003755, GO:0003755, GO:0003755, GO:0003755, GO:0003755, phosphoprotein binding, phosphothreonine residue binding, phosphothreonine residue binding, phosphoserine residue binding, tau protein binding, GTPase activating protein binding, mitogen-activated protein kinase kinase binding, cis-trans isomerase activity, beta-catenin binding, beta-catenin binding, protein binding, motor activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:2000146, GO:1902430, GO:1902430, GO:1901796, GO:1900180, GO:0090263, GO:0070373, GO:0061051, GO:0060393, GO:0051443, GO:0050821, GO:0050821, GO:0050808, GO:0046785, GO:0045944, GO:0043547, GO:0043525, GO:0043524, GO:0042177, GO:0035307, GO:0032480, GO:0032465, GO:0032465, GO:0032092, GO:0032091, GO:0031647, GO:0030512, GO:0030182, GO:0010468, GO:0007088, GO:0007049, GO:0001934, GO:0001932, GO:0001666, GO:0000413, negative regulation of cell motility, negative regulation of amyloid-beta formation, negative regulation of amyloid-beta formation, regulation of signal transduction by p53 class mediator, regulation of protein localization to nucleus, positive regulation of canonical Wnt signaling pathway, negative regulation of ERK1 and ERK2 cascade, positive regulation of cell growth involved in cardiac muscle cell development, regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of ubiquitin-protein transferase activity, protein stabilization, protein stabilization, synapse organization, microtubule polymerization, positive regulation of transcription by RNA polymerase II, positive regulation of GTPase activity, positive regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, negative regulation of protein catabolic process, positive regulation of protein dephosphorylation, negative regulation of type I interferon production, regulation of cytokinesis, regulation of cytokinesis, positive regulation of protein binding, negative regulation of protein binding, regulation of protein stability, negative regulation of transforming growth factor beta receptor signaling pathway, neuron differentiation, regulation of gene expression, regulation of mitotic nuclear division, cell cycle, positive regulation of protein phosphorylation, regulation of protein phosphorylation, response to hypoxia, protein peptidyl-prolyl isomerization, 136 193 170 198 183 159 129 151 113 ENSG00000127452 chr19 9810267 9827816 - FBXL12 protein_coding Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 54850 GO:0019005, GO:0005829, GO:0005829, GO:0005634, SCF ubiquitin ligase complex, cytosol, cytosol, nucleus, GO:0005515, protein binding, GO:0051726, GO:0043687, GO:0043153, GO:0031146, GO:0000209, GO:0000086, regulation of cell cycle, post-translational protein modification, entrainment of circadian clock by photoperiod, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein polyubiquitination, G2/M transition of mitotic cell cycle, 308 341 334 328 336 319 295 264 227 ENSG00000127463 chr1 19215664 19251552 - EMC1 protein_coding This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]. 23065 GO:0072546, GO:0072546, GO:0032991, GO:0016021, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, protein-containing complex, integral component of membrane, 45 36 61 116 196 247 170 118 145 ENSG00000127472 chr1 20028179 20091190 + PLA2G5 protein_coding This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 5322 GO:0055037, GO:0032010, GO:0032009, GO:0005886, GO:0005794, GO:0005576, recycling endosome, phagolysosome, early phagosome, plasma membrane, Golgi apparatus, extracellular region, GO:0102568, GO:0102567, GO:0047499, GO:0047498, GO:0005543, GO:0005509, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-independent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, phospholipid binding, calcium ion binding, GO:1905164, GO:1905036, GO:1903028, GO:0090385, GO:0090265, GO:0070374, GO:0050766, GO:0050482, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0035965, GO:0034638, GO:0034374, GO:0019370, GO:0010744, GO:0010518, GO:0006654, GO:0006644, GO:0006631, positive regulation of phagosome maturation, positive regulation of antifungal innate immune response, positive regulation of opsonization, phagosome-lysosome fusion, positive regulation of immune complex clearance by monocytes and macrophages, positive regulation of ERK1 and ERK2 cascade, positive regulation of phagocytosis, arachidonic acid secretion, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, cardiolipin acyl-chain remodeling, phosphatidylcholine catabolic process, low-density lipoprotein particle remodeling, leukotriene biosynthetic process, positive regulation of macrophage derived foam cell differentiation, positive regulation of phospholipase activity, phosphatidic acid biosynthetic process, phospholipid metabolic process, fatty acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000127481 chr1 19074506 19210276 - UBR4 protein_coding The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010]. 23352 GO:0101003, GO:0070821, GO:0035579, GO:0016021, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0005654, GO:0005654, ficolin-1-rich granule membrane, tertiary granule membrane, specific granule membrane, integral component of membrane, membrane, plasma membrane, cytosol, cytosol, centrosome, centrosome, nucleoplasm, nucleoplasm, GO:0061630, GO:0008270, GO:0005516, GO:0005515, GO:0004842, ubiquitin protein ligase activity, zinc ion binding, calmodulin binding, protein binding, ubiquitin-protein transferase activity, GO:0043312, GO:0016567, GO:0016032, GO:0006511, GO:0006511, neutrophil degranulation, protein ubiquitination, viral process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 2491 2909 3394 1550 2022 1977 1796 1600 1735 ENSG00000127483 chr1 20742661 20787323 - HP1BP3 protein_coding 50809 GO:0016607, GO:0005694, GO:0005694, GO:0005634, GO:0005634, GO:0000786, nuclear speck, chromosome, chromosome, nucleus, nucleus, nucleosome, GO:0031491, GO:0031491, GO:0005515, GO:0003677, GO:0003677, nucleosome binding, nucleosome binding, protein binding, DNA binding, DNA binding, GO:0097298, GO:0071456, GO:0070828, GO:0070828, GO:0042127, GO:0006355, GO:0006334, regulation of nucleus size, cellular response to hypoxia, heterochromatin organization, heterochromatin organization, regulation of cell population proliferation, regulation of transcription, DNA-templated, nucleosome assembly, 1921 2150 2717 1388 1705 1994 1506 1356 1513 ENSG00000127507 chr19 14732393 14778541 - ADGRE2 protein_coding This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. 30817 GO:0032587, GO:0031256, GO:0016021, GO:0005887, GO:0005886, ruffle membrane, leading edge membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0035374, GO:0005515, GO:0005509, GO:0004930, chondroitin sulfate binding, protein binding, calcium ion binding, G protein-coupled receptor activity, GO:0071621, GO:0043304, GO:0016477, GO:0007189, GO:0007186, GO:0007166, GO:0007155, GO:0006954, granulocyte chemotaxis, regulation of mast cell degranulation, cell migration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cell adhesion, inflammatory response, 5056 4922 5652 2614 4044 2962 3258 2952 2575 ENSG00000127511 chr19 16829400 16880353 + SIN3B protein_coding 23309 GO:0030849, GO:0016580, GO:0005737, GO:0005654, GO:0005634, GO:0001741, GO:0000806, GO:0000805, GO:0000785, GO:0000118, autosome, Sin3 complex, cytoplasm, nucleoplasm, nucleus, XY body, Y chromosome, X chromosome, chromatin, histone deacetylase complex, GO:0005515, GO:0004407, GO:0003714, GO:0003682, protein binding, histone deacetylase activity, transcription corepressor activity, chromatin binding, GO:0019216, GO:0016575, GO:0000122, regulation of lipid metabolic process, histone deacetylation, negative regulation of transcription by RNA polymerase II, 651 778 806 730 882 855 792 619 779 ENSG00000127515 chr19 14840466 14848922 - OR7A10 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390892 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000127526 chr19 16549831 16572382 - SLC35E1 protein_coding 79939 GO:0016021, GO:0005794, GO:0005794, integral component of membrane, Golgi apparatus, Golgi apparatus, GO:0015297, GO:0005515, antiporter activity, protein binding, GO:0055085, transmembrane transport, 513 622 624 279 490 398 344 351 383 ENSG00000127527 chr19 16355239 16472085 - EPS15L1 protein_coding 58513 GO:0030132, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005634, clathrin coat of coated pit, membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleus, GO:0045296, GO:0005515, GO:0005509, cadherin binding, protein binding, calcium ion binding, GO:0061024, GO:0042059, GO:0016197, GO:0006897, membrane organization, negative regulation of epidermal growth factor receptor signaling pathway, endosomal transport, endocytosis, 1510 1938 1889 1043 1762 1380 1305 1522 1187 ENSG00000127528 chr19 16324817 16327874 + KLF2 protein_coding This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]. 10365 GO:0000785, GO:0000785, GO:0000785, chromatin, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903671, GO:1901653, GO:0097533, GO:0071499, GO:0071498, GO:0071409, GO:0071356, GO:0071347, GO:0070301, GO:0060509, GO:0051247, GO:0048386, GO:0045944, GO:0045944, GO:0045893, GO:0045429, GO:0043249, GO:0040029, GO:0036003, GO:0035264, GO:0032715, GO:0006357, GO:0001701, GO:0000902, GO:0000122, negative regulation of sprouting angiogenesis, cellular response to peptide, cellular stress response to acid chemical, cellular response to laminar fluid shear stress, cellular response to fluid shear stress, cellular response to cycloheximide, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to hydrogen peroxide, type I pneumocyte differentiation, positive regulation of protein metabolic process, positive regulation of retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of nitric oxide biosynthetic process, erythrocyte maturation, regulation of gene expression, epigenetic, positive regulation of transcription from RNA polymerase II promoter in response to stress, multicellular organism growth, negative regulation of interleukin-6 production, regulation of transcription by RNA polymerase II, in utero embryonic development, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 5433 7099 8156 2382 4506 4240 2049 3109 3976 ENSG00000127529 chr19 14941489 14942448 + OR7C2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26658 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000127530 chr19 14789260 14835376 - OR7C1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26664 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007283, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, spermatogenesis, G protein-coupled receptor signaling pathway, 29 17 44 13 14 13 7 12 14 ENSG00000127533 chr19 16888860 16892606 + F2RL3 protein_coding This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Hypomethylation at this gene may be associated with lung cancer in human patients. [provided by RefSeq, Sep 2016]. 9002 GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005576, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, extracellular region, GO:0015057, GO:0004930, thrombin-activated receptor activity, G protein-coupled receptor activity, GO:0070493, GO:0060155, GO:0051482, GO:0051281, GO:0035025, GO:0030168, GO:0009611, GO:0007596, GO:0007200, GO:0007186, GO:0007165, thrombin-activated receptor signaling pathway, platelet dense granule organization, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of Rho protein signal transduction, platelet activation, response to wounding, blood coagulation, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 1 1 0 0 0 0 ENSG00000127540 chr19 1597172 1605490 - UQCR11 protein_coding This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]. 10975 GO:0070469, GO:0016021, GO:0005743, respirasome, integral component of membrane, mitochondrial inner membrane, GO:0009055, GO:0008121, electron transfer activity, ubiquinol-cytochrome-c reductase activity, GO:0006122, GO:0006091, mitochondrial electron transport, ubiquinol to cytochrome c, generation of precursor metabolites and energy, 74 54 73 13 68 37 42 43 38 ENSG00000127554 chr16 1984207 1987749 + GFER protein_coding The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]. 2671 GO:0005829, GO:0005758, GO:0005739, GO:0005739, GO:0005576, cytosol, mitochondrial intermembrane space, mitochondrion, mitochondrion, extracellular region, GO:0050660, GO:0050660, GO:0016971, GO:0015035, GO:0015035, GO:0008083, GO:0005515, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, flavin-linked sulfhydryl oxidase activity, protein disulfide oxidoreductase activity, protein disulfide oxidoreductase activity, growth factor activity, protein binding, GO:0055114, GO:0007165, GO:0001889, oxidation-reduction process, signal transduction, liver development, 13 14 22 42 10 26 14 15 32 ENSG00000127561 chr16 1989660 1994275 + SYNGR3 protein_coding This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]. 9143 GO:0031594, GO:0030672, GO:0016021, GO:0008021, neuromuscular junction, synaptic vesicle membrane, integral component of membrane, synaptic vesicle, GO:0047485, GO:0042169, GO:0005515, protein N-terminus binding, SH2 domain binding, protein binding, GO:0045055, GO:0032411, GO:0021762, GO:0001504, regulated exocytosis, positive regulation of transporter activity, substantia nigra development, neurotransmitter uptake, 0 4 7 5 1 13 1 3 0 ENSG00000127564 chr16 2968024 2980539 - PKMYT1 protein_coding This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 9088 GO:0016020, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000139, membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, nucleolus, nucleoplasm, nucleoplasm, nucleus, Golgi membrane, GO:0106311, GO:0106310, GO:0046872, GO:0016301, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, kinase activity, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0051321, GO:0010923, GO:0007088, GO:0006468, GO:0000278, GO:0000086, GO:0000079, meiotic cell cycle, negative regulation of phosphatase activity, regulation of mitotic nuclear division, protein phosphorylation, mitotic cell cycle, G2/M transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 7 11 10 18 11 17 23 20 2 ENSG00000127578 chr16 629239 634116 + WFIKKN1 protein_coding This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]. 117166 GO:0005576, extracellular region, GO:0050431, GO:0050431, GO:0048019, GO:0048019, GO:0008191, GO:0005515, GO:0004867, transforming growth factor beta binding, transforming growth factor beta binding, receptor antagonist activity, receptor antagonist activity, metalloendopeptidase inhibitor activity, protein binding, serine-type endopeptidase inhibitor activity, GO:2000272, GO:0060021, GO:0048747, GO:0043392, GO:0032091, GO:0030512, GO:0030512, GO:0010951, GO:0001501, negative regulation of signaling receptor activity, roof of mouth development, muscle fiber development, negative regulation of DNA binding, negative regulation of protein binding, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of endopeptidase activity, skeletal system development, 13 34 19 13 42 20 23 23 23 ENSG00000127580 chr16 684622 690444 - WDR24 protein_coding 84219 GO:0061700, GO:0043231, GO:0005829, GO:0005765, GATOR2 complex, intracellular membrane-bounded organelle, cytosol, lysosomal membrane, GO:0005515, protein binding, GO:0034198, GO:0032008, GO:0010506, GO:0006914, cellular response to amino acid starvation, positive regulation of TOR signaling, regulation of autophagy, autophagy, 43 39 50 39 58 57 65 46 42 ENSG00000127585 chr16 692498 705829 - FBXL16 protein_coding Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 146330 GO:0019005, GO:0005829, SCF ubiquitin ligase complex, cytosol, GO:0043687, GO:0031146, GO:0000209, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein polyubiquitination, 12 5 8 23 4 2 18 15 5 ENSG00000127586 chr16 788046 800737 + CHTF18 protein_coding This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]. 63922 GO:0031390, GO:0016020, GO:0005829, GO:0005654, GO:0005634, Ctf18 RFC-like complex, membrane, cytosol, nucleoplasm, nucleus, GO:0017116, GO:0017116, GO:0005524, GO:0005515, GO:0003689, GO:0003689, GO:0003677, single-stranded DNA helicase activity, single-stranded DNA helicase activity, ATP binding, protein binding, DNA clamp loader activity, DNA clamp loader activity, DNA binding, GO:1900264, GO:0032508, GO:0007049, GO:0006260, positive regulation of DNA-directed DNA polymerase activity, DNA duplex unwinding, cell cycle, DNA replication, 51 103 94 128 121 118 103 101 83 ENSG00000127588 chr16 798041 800733 - GNG13 protein_coding Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]. 51764 GO:0030425, GO:0005886, GO:0005834, dendrite, plasma membrane, heterotrimeric G-protein complex, GO:0031681, GO:0005515, G-protein beta-subunit binding, protein binding, GO:0050909, GO:0007200, sensory perception of taste, phospholipase C-activating G protein-coupled receptor signaling pathway, 0 1 0 2 1 0 0 0 0 ENSG00000127589 chr8 30351873 30353518 + TUBBP1 transcribed_processed_pseudogene 74 60 136 26 6 62 41 26 48 ENSG00000127603 chr1 39081316 39487177 + MACF1 protein_coding This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]. 23499 GO:0032587, GO:0016020, GO:0015629, GO:0005886, GO:0005882, GO:0005874, GO:0005874, GO:0005856, GO:0005794, GO:0005737, GO:0005737, ruffle membrane, membrane, actin cytoskeleton, plasma membrane, intermediate filament, microtubule, microtubule, cytoskeleton, Golgi apparatus, cytoplasm, cytoplasm, GO:0051015, GO:0051015, GO:0051011, GO:0045296, GO:0016887, GO:0005515, GO:0005509, GO:0005198, GO:0003779, GO:0003723, actin filament binding, actin filament binding, microtubule minus-end binding, cadherin binding, ATPase activity, protein binding, calcium ion binding, structural molecule activity, actin binding, RNA binding, GO:0150011, GO:0051893, GO:0051893, GO:0051893, GO:0045773, GO:0045104, GO:0043001, GO:0042060, GO:0042060, GO:0032886, GO:0032886, GO:0030334, GO:0030177, GO:0016055, GO:0010632, regulation of neuron projection arborization, regulation of focal adhesion assembly, regulation of focal adhesion assembly, regulation of focal adhesion assembly, positive regulation of axon extension, intermediate filament cytoskeleton organization, Golgi to plasma membrane protein transport, wound healing, wound healing, regulation of microtubule-based process, regulation of microtubule-based process, regulation of cell migration, positive regulation of Wnt signaling pathway, Wnt signaling pathway, regulation of epithelial cell migration, 1086 909 1917 1197 589 1771 1490 467 1364 ENSG00000127616 chr19 10960825 11079426 + SMARCA4 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 6597 GO:0071565, GO:0071564, GO:0071564, GO:0032991, GO:0016514, GO:0016020, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0000785, GO:0000785, nBAF complex, npBAF complex, npBAF complex, protein-containing complex, SWI/SNF complex, membrane, nucleolus, nucleoplasm, nucleus, nucleus, extracellular space, chromatin, chromatin, GO:0070577, GO:0070182, GO:0050681, GO:0047485, GO:0031492, GO:0030957, GO:0008134, GO:0008134, GO:0008094, GO:0008094, GO:0005524, GO:0005515, GO:0004386, GO:0003723, GO:0003714, GO:0003713, GO:0003713, GO:0003713, GO:0003677, GO:0002039, GO:0001164, lysine-acetylated histone binding, DNA polymerase binding, androgen receptor binding, protein N-terminus binding, nucleosomal DNA binding, Tat protein binding, transcription factor binding, transcription factor binding, DNA-dependent ATPase activity, DNA-dependent ATPase activity, ATP binding, protein binding, helicase activity, RNA binding, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, DNA binding, p53 binding, RNA polymerase I core promoter sequence-specific DNA binding, GO:1904837, GO:1902895, GO:1902661, GO:1901838, GO:0060766, GO:0051091, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0043923, GO:0043044, GO:0043044, GO:0038111, GO:0030308, GO:0030177, GO:0007399, GO:0006357, GO:0006338, GO:0006338, GO:0006338, GO:0006337, GO:0006325, GO:0003407, GO:0001188, GO:0000122, beta-catenin-TCF complex assembly, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of glucose mediated signaling pathway, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, negative regulation of androgen receptor signaling pathway, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation by host of viral transcription, ATP-dependent chromatin remodeling, ATP-dependent chromatin remodeling, interleukin-7-mediated signaling pathway, negative regulation of cell growth, positive regulation of Wnt signaling pathway, nervous system development, regulation of transcription by RNA polymerase II, chromatin remodeling, chromatin remodeling, chromatin remodeling, nucleosome disassembly, chromatin organization, neural retina development, RNA polymerase I preinitiation complex assembly, negative regulation of transcription by RNA polymerase II, 220 334 379 229 266 338 316 201 254 ENSG00000127663 chr19 4969113 5153595 + KDM4B protein_coding 23030 GO:0035097, GO:0005654, histone methyltransferase complex, nucleoplasm, GO:0051864, GO:0046872, GO:0032454, GO:0032454, GO:0032454, GO:0032454, GO:0032452, histone demethylase activity (H3-K36 specific), metal ion binding, histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity, GO:0070544, GO:0055114, GO:0033169, GO:0033169, GO:0006338, histone H3-K36 demethylation, oxidation-reduction process, histone H3-K9 demethylation, histone H3-K9 demethylation, chromatin remodeling, 3689 4133 4628 1858 2510 2236 2381 2038 1881 ENSG00000127666 chr19 4815932 4831704 - TICAM1 protein_coding This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]. 148022 GO:0097342, GO:0010008, GO:0005829, GO:0005776, GO:0005739, ripoptosome, endosome membrane, cytosol, autophagosome, mitochondrion, GO:0019901, GO:0019901, GO:0005515, protein kinase binding, protein kinase binding, protein binding, GO:1900017, GO:1900017, GO:0140052, GO:0097190, GO:0071222, GO:0070266, GO:0051607, GO:0051092, GO:0045429, GO:0045087, GO:0043330, GO:0043330, GO:0043330, GO:0043254, GO:0043123, GO:0043123, GO:0043123, GO:0043123, GO:0035666, GO:0035666, GO:0035666, GO:0035666, GO:0034138, GO:0034128, GO:0032816, GO:0032760, GO:0032755, GO:0032728, GO:0032092, GO:0031663, GO:0031398, GO:0030890, GO:0016032, GO:0010628, GO:0010508, GO:0007249, GO:0006954, GO:0002756, GO:0002735, GO:0002735, GO:0002281, positive regulation of cytokine production involved in inflammatory response, positive regulation of cytokine production involved in inflammatory response, cellular response to oxidised low-density lipoprotein particle stimulus, apoptotic signaling pathway, cellular response to lipopolysaccharide, necroptotic process, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of nitric oxide biosynthetic process, innate immune response, response to exogenous dsRNA, response to exogenous dsRNA, response to exogenous dsRNA, regulation of protein-containing complex assembly, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, TRIF-dependent toll-like receptor signaling pathway, TRIF-dependent toll-like receptor signaling pathway, TRIF-dependent toll-like receptor signaling pathway, TRIF-dependent toll-like receptor signaling pathway, toll-like receptor 3 signaling pathway, negative regulation of MyD88-independent toll-like receptor signaling pathway, positive regulation of natural killer cell activation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interferon-beta production, positive regulation of protein binding, lipopolysaccharide-mediated signaling pathway, positive regulation of protein ubiquitination, positive regulation of B cell proliferation, viral process, positive regulation of gene expression, positive regulation of autophagy, I-kappaB kinase/NF-kappaB signaling, inflammatory response, MyD88-independent toll-like receptor signaling pathway, positive regulation of myeloid dendritic cell cytokine production, positive regulation of myeloid dendritic cell cytokine production, macrophage activation involved in immune response, 419 380 1032 177 134 287 241 115 268 ENSG00000127720 chr12 82358497 82479236 + METTL25 protein_coding 84190 GO:0008168, methyltransferase activity, GO:0032259, methylation, 62 45 69 54 83 91 66 84 57 ENSG00000127743 chr5 149371324 149404202 - IL17B protein_coding The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. Alternative splicing results in multiple splice variants. [provided by RefSeq, Dec 2015]. 27190 GO:0005615, extracellular space, GO:0005125, cytokine activity, GO:1900017, GO:0007267, GO:0007165, GO:0006955, GO:0006954, positive regulation of cytokine production involved in inflammatory response, cell-cell signaling, signal transduction, immune response, inflammatory response, 1 0 3 3 0 3 7 2 0 ENSG00000127774 chr17 3668815 3669668 + EMC6 protein_coding 83460 GO:0097631, GO:0072546, GO:0072546, GO:0030176, GO:0016021, integral component of omegasome membrane, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, integral component of endoplasmic reticulum membrane, integral component of membrane, GO:0005515, protein binding, GO:0000045, GO:0000045, autophagosome assembly, autophagosome assembly, 78 39 79 37 43 32 42 47 23 ENSG00000127780 chr17 3432870 3433841 - OR1E2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 8388 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0004984, GO:0004930, signaling receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007606, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, sensory perception of chemical stimulus, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000127804 chr17 2405562 2511891 - METTL16 protein_coding 79066 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0120048, GO:0052907, GO:0035613, GO:0030629, GO:0003723, GO:0003723, GO:0001734, U6 snRNA (adenine-(43)-N(6))-methyltransferase activity, 23S rRNA (adenine(1618)-N(6))-methyltransferase activity, RNA stem-loop binding, U6 snRNA 3'-end binding, RNA binding, RNA binding, mRNA (N6-adenosine)-methyltransferase activity, GO:1905869, GO:0120049, GO:0080009, GO:0070475, GO:0061157, GO:0048024, GO:0010608, GO:0006556, GO:0006556, GO:0006402, negative regulation of 3'-UTR-mediated mRNA stabilization, snRNA (adenine-N6)-methylation, mRNA methylation, rRNA base methylation, mRNA destabilization, regulation of mRNA splicing, via spliceosome, posttranscriptional regulation of gene expression, S-adenosylmethionine biosynthetic process, S-adenosylmethionine biosynthetic process, mRNA catabolic process, 60 60 98 116 91 110 101 37 116 ENSG00000127824 chr2 219249711 219278170 - TUBA4A protein_coding Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]. 7277 GO:0070062, GO:0015630, GO:0005874, GO:0005874, GO:0005856, GO:0005829, GO:0005737, GO:0005576, extracellular exosome, microtubule cytoskeleton, microtubule, microtubule, cytoskeleton, cytosol, cytoplasm, extracellular region, GO:0019901, GO:0005525, GO:0005515, GO:0005200, GO:0003924, protein kinase binding, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, GO:0097711, GO:0010389, GO:0002576, GO:0000278, GO:0000226, GO:0000086, ciliary basal body-plasma membrane docking, regulation of G2/M transition of mitotic cell cycle, platelet degranulation, mitotic cell cycle, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 1813 1773 2610 739 1445 1310 830 1253 1137 ENSG00000127831 chr2 218419092 218453295 + VIL1 protein_coding This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]. 7429 GO:0070062, GO:0032433, GO:0032432, GO:0030175, GO:0030027, GO:0030027, GO:0015629, GO:0005903, GO:0005902, GO:0005886, GO:0005737, GO:0001726, extracellular exosome, filopodium tip, actin filament bundle, filopodium, lamellipodium, lamellipodium, actin cytoskeleton, brush border, microvillus, plasma membrane, cytoplasm, ruffle, GO:0051015, GO:0051015, GO:0043027, GO:0042803, GO:0042802, GO:0035727, GO:0005546, GO:0005546, GO:0005515, GO:0005509, GO:0005509, actin filament binding, actin filament binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, protein homodimerization activity, identical protein binding, lysophosphatidic acid binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, calcium ion binding, calcium ion binding, GO:2000394, GO:2000394, GO:2000392, GO:2000392, GO:1903078, GO:1902896, GO:0071364, GO:0065003, GO:0061041, GO:0060327, GO:0051693, GO:0051125, GO:0051016, GO:0051016, GO:0051014, GO:0051014, GO:0045010, GO:0043154, GO:0040018, GO:0035729, GO:0032532, GO:0032233, GO:0030855, GO:0030836, GO:0030335, GO:0030042, GO:0030041, GO:0010634, GO:0010634, GO:0010634, GO:0009617, GO:0008360, GO:0008154, GO:0007173, GO:0006915, GO:0001951, positive regulation of lamellipodium morphogenesis, positive regulation of lamellipodium morphogenesis, regulation of lamellipodium morphogenesis, regulation of lamellipodium morphogenesis, positive regulation of protein localization to plasma membrane, terminal web assembly, cellular response to epidermal growth factor stimulus, protein-containing complex assembly, regulation of wound healing, cytoplasmic actin-based contraction involved in cell motility, actin filament capping, regulation of actin nucleation, barbed-end actin filament capping, barbed-end actin filament capping, actin filament severing, actin filament severing, actin nucleation, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of multicellular organism growth, cellular response to hepatocyte growth factor stimulus, regulation of microvillus length, positive regulation of actin filament bundle assembly, epithelial cell differentiation, positive regulation of actin filament depolymerization, positive regulation of cell migration, actin filament depolymerization, actin filament polymerization, positive regulation of epithelial cell migration, positive regulation of epithelial cell migration, positive regulation of epithelial cell migration, response to bacterium, regulation of cell shape, actin polymerization or depolymerization, epidermal growth factor receptor signaling pathway, apoptotic process, intestinal D-glucose absorption, 24 18 35 37 40 35 31 24 33 ENSG00000127837 chr2 218264123 218270257 - AAMP protein_coding The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]. 14 GO:0045171, GO:0015630, GO:0009986, GO:0005886, GO:0005829, GO:0005829, intercellular bridge, microtubule cytoskeleton, cell surface, plasma membrane, cytosol, cytosol, GO:0008201, GO:0005515, heparin binding, protein binding, GO:0030154, GO:0014909, GO:0010595, GO:0001525, cell differentiation, smooth muscle cell migration, positive regulation of endothelial cell migration, angiogenesis, 142 136 162 156 169 220 159 116 126 ENSG00000127838 chr2 218270392 218346793 + PNKD protein_coding This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 25953 GO:0016020, GO:0005739, GO:0005634, membrane, mitochondrion, nucleus, GO:0046872, GO:0005515, GO:0004416, metal ion binding, protein binding, hydroxyacylglutathione hydrolase activity, GO:0050884, GO:0046929, GO:0042053, GO:0032225, GO:0019243, neuromuscular process controlling posture, negative regulation of neurotransmitter secretion, regulation of dopamine metabolic process, regulation of synaptic transmission, dopaminergic, methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione, 172 430 217 79 371 138 120 310 149 ENSG00000127863 chr13 23570370 23676104 + TNFRSF19 protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 55504 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0038023, GO:0005515, GO:0005031, signaling receptor activity, protein binding, tumor necrosis factor-activated receptor activity, GO:0046330, GO:0043123, GO:0033209, GO:0007254, GO:0006915, GO:0001942, positive regulation of JNK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, JNK cascade, apoptotic process, hair follicle development, 0 0 2 0 0 0 0 0 0 ENSG00000127870 chr13 26132115 26222493 - RNF6 protein_coding The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]. 6049 GO:0043231, GO:0031965, GO:0030424, GO:0016605, GO:0005737, GO:0005737, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, nuclear membrane, axon, PML body, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0061630, GO:0050681, GO:0046872, GO:0005515, GO:0004842, GO:0003677, ubiquitin protein ligase activity, androgen receptor binding, metal ion binding, protein binding, ubiquitin-protein transferase activity, DNA binding, GO:0085020, GO:0070936, GO:0060765, GO:0045893, GO:0045893, GO:0044314, GO:0030517, GO:0016567, GO:0006511, GO:0006511, GO:0006355, protein K6-linked ubiquitination, protein K48-linked ubiquitination, regulation of androgen receptor signaling pathway, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, protein K27-linked ubiquitination, negative regulation of axon extension, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, regulation of transcription, DNA-templated, 170 145 206 121 129 136 100 150 131 ENSG00000127884 chr10 133362480 133373689 - ECHS1 protein_coding The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]. 1892 GO:0005759, GO:0005739, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0005515, GO:0004300, GO:0004300, protein binding, enoyl-CoA hydratase activity, enoyl-CoA hydratase activity, GO:0006635, GO:0006635, GO:0006635, GO:0006635, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, 21 13 48 36 35 55 31 34 29 ENSG00000127903 chr19 56661981 56671783 - ZNF835 protein_coding 90485 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 2 0 0 2 0 ENSG00000127914 chr7 91940867 92110673 + AKAP9 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]. 10142 GO:0098978, GO:0098978, GO:0097060, GO:0043231, GO:0008076, GO:0005856, GO:0005829, GO:0005813, GO:0005813, GO:0005801, GO:0005801, GO:0005795, GO:0005795, GO:0005794, glutamatergic synapse, glutamatergic synapse, synaptic membrane, intracellular membrane-bounded organelle, voltage-gated potassium channel complex, cytoskeleton, cytosol, centrosome, centrosome, cis-Golgi network, cis-Golgi network, Golgi stack, Golgi stack, Golgi apparatus, GO:0060090, GO:0060090, GO:0044325, GO:0034237, GO:0034237, GO:0034237, GO:0015459, GO:0015459, GO:0005515, GO:0005102, GO:0003677, molecular adaptor activity, molecular adaptor activity, ion channel binding, protein kinase A regulatory subunit binding, protein kinase A regulatory subunit binding, protein kinase A regulatory subunit binding, potassium channel regulator activity, potassium channel regulator activity, protein binding, signaling receptor binding, DNA binding, GO:1903358, GO:1903358, GO:1901018, GO:1901018, GO:0098962, GO:0098962, GO:0098909, GO:0097711, GO:0086091, GO:0071320, GO:0061337, GO:0060307, GO:0060307, GO:0060306, GO:0051661, GO:0051661, GO:0033138, GO:0033138, GO:0031116, GO:0010389, GO:0007268, GO:0007165, GO:0007020, GO:0000086, regulation of Golgi organization, regulation of Golgi organization, positive regulation of potassium ion transmembrane transporter activity, positive regulation of potassium ion transmembrane transporter activity, regulation of postsynaptic neurotransmitter receptor activity, regulation of postsynaptic neurotransmitter receptor activity, regulation of cardiac muscle cell action potential involved in regulation of contraction, ciliary basal body-plasma membrane docking, regulation of heart rate by cardiac conduction, cellular response to cAMP, cardiac conduction, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of membrane repolarization, maintenance of centrosome location, maintenance of centrosome location, positive regulation of peptidyl-serine phosphorylation, positive regulation of peptidyl-serine phosphorylation, positive regulation of microtubule polymerization, regulation of G2/M transition of mitotic cell cycle, chemical synaptic transmission, signal transduction, microtubule nucleation, G2/M transition of mitotic cell cycle, 1177 1036 1329 867 809 1101 1016 598 908 ENSG00000127920 chr7 93921699 93928610 + GNG11 protein_coding This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]. 2791 GO:0031680, GO:0005886, GO:0005834, G-protein beta/gamma-subunit complex, plasma membrane, heterotrimeric G-protein complex, GO:0031681, GO:0005515, GO:0003924, G-protein beta-subunit binding, protein binding, GTPase activity, GO:0007186, GO:0007165, G protein-coupled receptor signaling pathway, signal transduction, 1 4 4 0 3 9 2 2 0 ENSG00000127922 chr7 96481626 96709891 - SEM1 protein_coding The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]. 7979 18 5 26 41 19 111 34 21 40 ENSG00000127928 chr7 93591573 93911265 + GNGT1 protein_coding This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]. 2792 GO:0097381, GO:0031680, GO:0005886, GO:0005834, GO:0001917, photoreceptor disc membrane, G-protein beta/gamma-subunit complex, plasma membrane, heterotrimeric G-protein complex, photoreceptor inner segment, GO:0031681, GO:0005515, GO:0003924, G-protein beta-subunit binding, protein binding, GTPase activity, GO:0071456, GO:0042462, GO:0016056, GO:0010659, GO:0008104, GO:0007186, GO:0007165, cellular response to hypoxia, eye photoreceptor cell development, rhodopsin mediated signaling pathway, cardiac muscle cell apoptotic process, protein localization, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000127946 chr7 75533300 75738962 - HIP1 protein_coding The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 3092 GO:0098978, GO:0098890, GO:0098888, GO:0098794, GO:0098793, GO:0098793, GO:0043231, GO:0043231, GO:0031234, GO:0030665, GO:0030136, GO:0030136, GO:0016020, GO:0005856, GO:0005829, GO:0005794, GO:0005737, GO:0005634, glutamatergic synapse, extrinsic component of postsynaptic membrane, extrinsic component of presynaptic membrane, postsynapse, presynapse, presynapse, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, extrinsic component of cytoplasmic side of plasma membrane, clathrin-coated vesicle membrane, clathrin-coated vesicle, clathrin-coated vesicle, membrane, cytoskeleton, cytosol, Golgi apparatus, cytoplasm, nucleus, GO:0080025, GO:0080025, GO:0051015, GO:0051015, GO:0046982, GO:0043325, GO:0043325, GO:0042803, GO:0035615, GO:0035615, GO:0035612, GO:0035254, GO:0035091, GO:0032266, GO:0032051, GO:0032051, GO:0030276, GO:0005546, GO:0005515, GO:0005200, GO:0005154, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, actin filament binding, actin filament binding, protein heterodimerization activity, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, protein homodimerization activity, clathrin adaptor activity, clathrin adaptor activity, AP-2 adaptor complex binding, glutamate receptor binding, phosphatidylinositol binding, phosphatidylinositol-3-phosphate binding, clathrin light chain binding, clathrin light chain binding, clathrin binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, structural constituent of cytoskeleton, epidermal growth factor receptor binding, GO:2000588, GO:0099637, GO:0097190, GO:0072583, GO:0061024, GO:0051897, GO:0050821, GO:0048268, GO:0048268, GO:0048260, GO:0048260, GO:0045742, GO:0042981, GO:0030154, GO:0030100, GO:0007015, GO:0006919, GO:0006919, GO:0006915, positive regulation of platelet-derived growth factor receptor-beta signaling pathway, neurotransmitter receptor transport, apoptotic signaling pathway, clathrin-dependent endocytosis, membrane organization, positive regulation of protein kinase B signaling, protein stabilization, clathrin coat assembly, clathrin coat assembly, positive regulation of receptor-mediated endocytosis, positive regulation of receptor-mediated endocytosis, positive regulation of epidermal growth factor receptor signaling pathway, regulation of apoptotic process, cell differentiation, regulation of endocytosis, actin filament organization, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 1702 1897 1249 882 1438 461 1159 1191 396 ENSG00000127947 chr7 77537275 77640071 + PTPN12 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. 5782 GO:0042995, GO:0005925, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0002102, cell projection, focal adhesion, cytosol, cytoplasm, nucleoplasm, nucleus, podosome, GO:0017124, GO:0005515, GO:0004726, GO:0004725, GO:0004721, SH3 domain binding, protein binding, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:2000587, GO:1901185, GO:0071364, GO:0071364, GO:0071345, GO:0042246, GO:0042058, GO:0042058, GO:0038128, GO:0035335, GO:0035335, GO:0006470, negative regulation of platelet-derived growth factor receptor-beta signaling pathway, negative regulation of ERBB signaling pathway, cellular response to epidermal growth factor stimulus, cellular response to epidermal growth factor stimulus, cellular response to cytokine stimulus, tissue regeneration, regulation of epidermal growth factor receptor signaling pathway, regulation of epidermal growth factor receptor signaling pathway, ERBB2 signaling pathway, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, 2794 2858 3964 1050 2167 1893 1411 1767 1733 ENSG00000127948 chr7 75899200 75986855 + POR protein_coding This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]. 5447 GO:0043231, GO:0016021, GO:0016020, GO:0005829, GO:0005789, GO:0005739, intracellular membrane-bounded organelle, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, mitochondrion, GO:0050661, GO:0050660, GO:0047726, GO:0019899, GO:0016787, GO:0016709, GO:0016491, GO:0010181, GO:0009055, GO:0008941, GO:0005515, GO:0004128, GO:0003958, GO:0003958, GO:0003958, NADP binding, flavin adenine dinucleotide binding, iron-cytochrome-c reductase activity, enzyme binding, hydrolase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, FMN binding, electron transfer activity, nitric oxide dioxygenase activity, protein binding, cytochrome-b5 reductase activity, acting on NAD(P)H, NADPH-hemoprotein reductase activity, NADPH-hemoprotein reductase activity, NADPH-hemoprotein reductase activity, GO:0090346, GO:0090031, GO:0071375, GO:0071372, GO:0070988, GO:0060192, GO:0055114, GO:0055114, GO:0046210, GO:0045880, GO:0045542, GO:0043602, GO:0043154, GO:0042493, GO:0032770, GO:0032332, GO:0022900, GO:0019395, GO:0018393, GO:0009812, GO:0009725, GO:0009437, GO:0007584, GO:0006805, GO:0003420, cellular organofluorine metabolic process, positive regulation of steroid hormone biosynthetic process, cellular response to peptide hormone stimulus, cellular response to follicle-stimulating hormone stimulus, demethylation, negative regulation of lipase activity, oxidation-reduction process, oxidation-reduction process, nitric oxide catabolic process, positive regulation of smoothened signaling pathway, positive regulation of cholesterol biosynthetic process, nitrate catabolic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, response to drug, positive regulation of monooxygenase activity, positive regulation of chondrocyte differentiation, electron transport chain, fatty acid oxidation, internal peptidyl-lysine acetylation, flavonoid metabolic process, response to hormone, carnitine metabolic process, response to nutrient, xenobiotic metabolic process, regulation of growth plate cartilage chondrocyte proliferation, 672 679 779 383 469 374 381 455 343 ENSG00000127951 chr7 77193371 77199848 - FGL2 protein_coding The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008]. 10875 GO:1904813, GO:0070062, GO:0062023, GO:0062023, GO:0005615, GO:0005577, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular space, fibrinogen complex, extracellular region, GO:0008233, GO:0005201, GO:0005102, peptidase activity, extracellular matrix structural constituent, signaling receptor binding, GO:0050687, GO:0043381, GO:0043312, GO:0006508, GO:0002617, GO:0002605, GO:0002381, GO:0002291, negative regulation of defense response to virus, negative regulation of memory T cell differentiation, neutrophil degranulation, proteolysis, negative regulation of macrophage antigen processing and presentation, negative regulation of dendritic cell antigen processing and presentation, immunoglobulin production involved in immunoglobulin-mediated immune response, T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, 12707 11593 13852 1229 4328 2593 2221 4583 2851 ENSG00000127952 chr7 75996338 76048004 - STYXL1 protein_coding 51657 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0019903, GO:0019903, GO:0008138, GO:0005515, GO:0004864, GO:0004864, GO:0001691, GO:0001691, protein phosphatase binding, protein phosphatase binding, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein phosphatase inhibitor activity, protein phosphatase inhibitor activity, pseudophosphatase activity, pseudophosphatase activity, GO:2001244, GO:2001244, GO:2001242, GO:0062030, GO:0062030, GO:0035556, GO:0032515, GO:0010976, GO:0006470, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, regulation of intrinsic apoptotic signaling pathway, negative regulation of stress granule assembly, negative regulation of stress granule assembly, intracellular signal transduction, negative regulation of phosphoprotein phosphatase activity, positive regulation of neuron projection development, protein dephosphorylation, 98 125 138 77 122 118 86 116 92 ENSG00000127954 chr7 88270892 88306891 - STEAP4 protein_coding The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]. 79689 GO:0070062, GO:0031901, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005768, GO:0005654, GO:0000139, extracellular exosome, early endosome membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, endosome, nucleoplasm, Golgi membrane, GO:0071949, GO:0052851, GO:0052851, GO:0046872, GO:0020037, GO:0009055, GO:0008823, FAD binding, ferric-chelate reductase (NADPH) activity, ferric-chelate reductase (NADPH) activity, metal ion binding, heme binding, electron transfer activity, cupric reductase activity, GO:0070207, GO:0055114, GO:0055072, GO:0045444, GO:0022900, GO:0015677, protein homotrimerization, oxidation-reduction process, iron ion homeostasis, fat cell differentiation, electron transport chain, copper ion import, 8358 7120 13383 1917 5200 4326 2714 4190 4258 ENSG00000127955 chr7 79768028 80226181 + GNAI1 protein_coding Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 2770 GO:0099738, GO:0070062, GO:0045121, GO:0030496, GO:0005886, GO:0005886, GO:0005834, GO:0005813, GO:0005765, GO:0005737, GO:0005634, cell cortex region, extracellular exosome, membrane raft, midbody, plasma membrane, plasma membrane, heterotrimeric G-protein complex, centrosome, lysosomal membrane, cytoplasm, nucleus, GO:0032794, GO:0031821, GO:0031683, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, GO:0001664, GO:0001664, GO:0000287, GTPase activating protein binding, G protein-coupled serotonin receptor binding, G-protein beta/gamma-subunit complex binding, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, G protein-coupled receptor binding, G protein-coupled receptor binding, magnesium ion binding, GO:1904778, GO:1904322, GO:0060236, GO:0051301, GO:0050805, GO:0043949, GO:0043434, GO:0007193, GO:0007188, GO:0007186, GO:0007186, GO:0007049, GO:0006457, positive regulation of protein localization to cell cortex, cellular response to forskolin, regulation of mitotic spindle organization, cell division, negative regulation of synaptic transmission, regulation of cAMP-mediated signaling, response to peptide hormone, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell cycle, protein folding, 0 0 1 2 3 7 4 0 0 ENSG00000127957 chr7 75502930 75528148 - PMS2P3 transcribed_unprocessed_pseudogene 5387 GO:0032300, GO:0005575, mismatch repair complex, cellular_component, GO:0016887, GO:0003674, ATPase activity, molecular_function, GO:0008150, GO:0006355, GO:0006298, biological_process, regulation of transcription, DNA-templated, mismatch repair, 31 18 39 37 29 58 10 32 51 ENSG00000127980 chr7 92487020 92528531 - PEX1 protein_coding This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]. 5189 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005778, GO:0005778, GO:0005778, GO:0005777, GO:0005737, extracellular exosome, cytosol, cytosol, cytosol, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, cytoplasm, GO:0044877, GO:0016887, GO:0016887, GO:0008022, GO:0005524, GO:0005515, protein-containing complex binding, ATPase activity, ATPase activity, protein C-terminus binding, ATP binding, protein binding, GO:0060152, GO:0016558, GO:0016558, GO:0007031, GO:0006625, GO:0006625, microtubule-based peroxisome localization, protein import into peroxisome matrix, protein import into peroxisome matrix, peroxisome organization, protein targeting to peroxisome, protein targeting to peroxisome, 79 91 116 176 125 162 160 97 130 ENSG00000127989 chr7 91692008 91880720 - MTERF1 protein_coding This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]. 7978 GO:0042645, GO:0005829, GO:0005759, GO:0005759, GO:0005739, mitochondrial nucleoid, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0005515, GO:0003723, GO:0003690, GO:0003676, protein binding, RNA binding, double-stranded DNA binding, nucleic acid binding, GO:0032392, GO:0007005, GO:0006393, GO:0006393, GO:0006393, GO:0006355, GO:0006353, DNA geometric change, mitochondrion organization, termination of mitochondrial transcription, termination of mitochondrial transcription, termination of mitochondrial transcription, regulation of transcription, DNA-templated, DNA-templated transcription, termination, 33 30 35 62 46 78 53 31 42 ENSG00000127990 chr7 94524204 94656572 - SGCE protein_coding This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]. 8910 GO:0042383, GO:0032590, GO:0016012, GO:0016010, GO:0005887, GO:0005886, GO:0005856, GO:0005794, sarcolemma, dendrite membrane, sarcoglycan complex, dystrophin-associated glycoprotein complex, integral component of plasma membrane, plasma membrane, cytoskeleton, Golgi apparatus, GO:0007517, GO:0007160, muscle organ development, cell-matrix adhesion, 0 1 2 2 4 5 0 0 7 ENSG00000127993 chr7 92528773 92538005 + RBM48 protein_coding 84060 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, 137 147 209 148 121 90 141 102 152 ENSG00000127995 chr7 94509219 94557019 + CASD1 protein_coding 64921 GO:0030173, GO:0030173, integral component of Golgi membrane, integral component of Golgi membrane, GO:0047186, GO:0047186, N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity, N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity, GO:0005975, carbohydrate metabolic process, 41 42 80 114 36 88 70 20 45 ENSG00000128000 chr19 40028260 40056209 - ZNF780B protein_coding 163131 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 63 53 81 106 75 98 99 68 103 ENSG00000128011 chr19 39306568 39315336 - LRFN1 protein_coding 57622 GO:0099061, GO:0009986, GO:0005886, integral component of postsynaptic density membrane, cell surface, plasma membrane, GO:0099151, regulation of postsynaptic density assembly, 910 813 879 697 867 723 755 625 664 ENSG00000128016 chr19 39406813 39409412 + ZFP36 protein_coding 7538 GO:1990904, GO:0098745, GO:0070578, GO:0030014, GO:0010494, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0000932, GO:0000178, ribonucleoprotein complex, Dcp1-Dcp2 complex, RISC-loading complex, CCR4-NOT complex, cytoplasmic stress granule, cytosol, cytosol, cytoplasm, nucleus, P-body, exosome (RNase complex), GO:0071889, GO:0070063, GO:0046872, GO:0035925, GO:0035925, GO:0035925, GO:0031072, GO:0019957, GO:0019901, GO:0019899, GO:0005515, GO:0003729, GO:0003723, GO:0003677, 14-3-3 protein binding, RNA polymerase binding, metal ion binding, mRNA 3'-UTR AU-rich region binding, mRNA 3'-UTR AU-rich region binding, mRNA 3'-UTR AU-rich region binding, heat shock protein binding, C-C chemokine binding, protein kinase binding, enzyme binding, protein binding, mRNA binding, RNA binding, DNA binding, GO:2000637, GO:1904582, GO:1904246, GO:1902172, GO:1901835, GO:1900153, GO:1900153, GO:0097011, GO:0071385, GO:0071364, GO:0071356, GO:0071222, GO:0071222, GO:0070935, GO:0061158, GO:0061158, GO:0060213, GO:0051028, GO:0045647, GO:0045616, GO:0045600, GO:0044344, GO:0043488, GO:0043488, GO:0043488, GO:0042594, GO:0038066, GO:0035278, GO:0032897, GO:0032703, GO:0032680, GO:0031086, GO:0016032, GO:0010837, GO:0009611, GO:0009611, GO:0006402, GO:0000289, GO:0000288, GO:0000165, GO:0000165, GO:0000122, positive regulation of gene silencing by miRNA, positive regulation of intracellular mRNA localization, negative regulation of polynucleotide adenylyltransferase activity, regulation of keratinocyte apoptotic process, positive regulation of deadenylation-independent decapping of nuclear-transcribed mRNA, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, cellular response to granulocyte macrophage colony-stimulating factor stimulus, cellular response to glucocorticoid stimulus, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, 3'-UTR-mediated mRNA stabilization, 3'-UTR-mediated mRNA destabilization, 3'-UTR-mediated mRNA destabilization, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, mRNA transport, negative regulation of erythrocyte differentiation, regulation of keratinocyte differentiation, positive regulation of fat cell differentiation, cellular response to fibroblast growth factor stimulus, regulation of mRNA stability, regulation of mRNA stability, regulation of mRNA stability, response to starvation, p38MAPK cascade, miRNA mediated inhibition of translation, negative regulation of viral transcription, negative regulation of interleukin-2 production, regulation of tumor necrosis factor production, nuclear-transcribed mRNA catabolic process, deadenylation-independent decay, viral process, regulation of keratinocyte proliferation, response to wounding, response to wounding, mRNA catabolic process, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, MAPK cascade, MAPK cascade, negative regulation of transcription by RNA polymerase II, 5308 9547 11180 83452 133360 192898 155100 159402 211639 ENSG00000128039 chr4 55346109 55373096 + SRD5A3 protein_coding The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]. 79644 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0102389, GO:0047751, GO:0016628, GO:0016628, GO:0003865, GO:0003865, polyprenol reductase activity, cholestenone 5-alpha-reductase activity, oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor, oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor, 3-oxo-5-alpha-steroid 4-dehydrogenase activity, 3-oxo-5-alpha-steroid 4-dehydrogenase activity, GO:0055114, GO:0019408, GO:0019348, GO:0016095, GO:0016095, GO:0006702, GO:0006489, GO:0006488, GO:0006488, oxidation-reduction process, dolichol biosynthetic process, dolichol metabolic process, polyprenol catabolic process, polyprenol catabolic process, androgen biosynthetic process, dolichyl diphosphate biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, 1 0 4 6 9 6 6 2 8 ENSG00000128040 chr4 56809860 56821742 - SPINK2 protein_coding This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 6691 GO:0005576, GO:0001669, extracellular region, acrosomal vesicle, GO:0005515, GO:0004867, GO:0004866, protein binding, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:1900004, GO:0007286, GO:0001675, negative regulation of serine-type endopeptidase activity, spermatid development, acrosome assembly, 0 1 0 0 0 0 4 0 0 ENSG00000128045 chr4 52862290 52866835 + RASL11B protein_coding RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]. 65997 GO:0016020, membrane, GO:0005525, GO:0005515, GO:0005160, GO:0003924, GTP binding, protein binding, transforming growth factor beta receptor binding, GTPase activity, GO:0030512, GO:0007165, negative regulation of transforming growth factor beta receptor signaling pathway, signal transduction, 0 1 0 2 0 0 1 2 0 ENSG00000128050 chr4 56435741 56464579 + PAICS protein_coding This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10606 GO:0070062, GO:0016020, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, membrane, cytosol, cytosol, cytoplasm, GO:0045296, GO:0043727, GO:0042802, GO:0005524, GO:0005515, GO:0004639, GO:0004638, cadherin binding, 5-amino-4-imidazole carboxylate lyase activity, identical protein binding, ATP binding, protein binding, phosphoribosylaminoimidazolesuccinocarboxamide synthase activity, phosphoribosylaminoimidazole carboxylase activity, GO:0009168, GO:0009113, GO:0006189, purine ribonucleoside monophosphate biosynthetic process, purine nucleobase biosynthetic process, 'de novo' IMP biosynthetic process, 41 34 44 65 64 107 62 39 50 ENSG00000128052 chr4 55078259 55125595 - KDR protein_coding Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]. 3791 GO:0097443, GO:0045121, GO:0043235, GO:0030054, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005769, GO:0005768, GO:0005634, GO:0005576, sorting endosome, membrane raft, receptor complex, cell junction, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, early endosome, endosome, nucleus, extracellular region, GO:0051879, GO:0045296, GO:0042802, GO:0038085, GO:0019838, GO:0005524, GO:0005515, GO:0005178, GO:0005021, GO:0004714, GO:0004714, GO:0004713, GO:0004713, Hsp90 protein binding, cadherin binding, identical protein binding, vascular endothelial growth factor binding, growth factor binding, ATP binding, protein binding, integrin binding, vascular endothelial growth factor-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2001214, GO:2000352, GO:1904881, GO:0090141, GO:0090050, GO:0070374, GO:0070371, GO:0061042, GO:0051901, GO:0051894, GO:0051770, GO:0051770, GO:0050927, GO:0048010, GO:0048010, GO:0048010, GO:0046777, GO:0045766, GO:0045766, GO:0045446, GO:0043536, GO:0043491, GO:0043410, GO:0043066, GO:0038084, GO:0038083, GO:0038033, GO:0036324, GO:0035924, GO:0035924, GO:0035584, GO:0035162, GO:0033674, GO:0030335, GO:0030335, GO:0030198, GO:0018108, GO:0016477, GO:0016239, GO:0016032, GO:0014068, GO:0010629, GO:0010595, GO:0008360, GO:0008284, GO:0008284, GO:0007275, GO:0007169, GO:0003158, GO:0002244, GO:0002042, GO:0001938, GO:0001934, GO:0001570, GO:0001569, GO:0001525, positive regulation of vasculogenesis, negative regulation of endothelial cell apoptotic process, cellular response to hydrogen sulfide, positive regulation of mitochondrial fission, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, vascular wound healing, positive regulation of mitochondrial depolarization, positive regulation of focal adhesion assembly, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of positive chemotaxis, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, positive regulation of angiogenesis, positive regulation of angiogenesis, endothelial cell differentiation, positive regulation of blood vessel endothelial cell migration, protein kinase B signaling, positive regulation of MAPK cascade, negative regulation of apoptotic process, vascular endothelial growth factor signaling pathway, peptidyl-tyrosine autophosphorylation, positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor-2 signaling pathway, cellular response to vascular endothelial growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, calcium-mediated signaling using intracellular calcium source, embryonic hemopoiesis, positive regulation of kinase activity, positive regulation of cell migration, positive regulation of cell migration, extracellular matrix organization, peptidyl-tyrosine phosphorylation, cell migration, positive regulation of macroautophagy, viral process, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of gene expression, positive regulation of endothelial cell migration, regulation of cell shape, positive regulation of cell population proliferation, positive regulation of cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, endothelium development, hematopoietic progenitor cell differentiation, cell migration involved in sprouting angiogenesis, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, vasculogenesis, branching involved in blood vessel morphogenesis, angiogenesis, 0 0 0 0 0 0 0 1 0 ENSG00000128059 chr4 56393362 56435615 - PPAT protein_coding The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]. 5471 GO:0005829, cytosol, GO:0051539, GO:0046872, GO:0042802, GO:0004044, 4 iron, 4 sulfur cluster binding, metal ion binding, identical protein binding, amidophosphoribosyltransferase activity, GO:0060135, GO:0035690, GO:0032869, GO:0031100, GO:0009168, GO:0009116, GO:0009113, GO:0007595, GO:0006543, GO:0006189, GO:0006164, GO:0001822, GO:0000082, maternal process involved in female pregnancy, cellular response to drug, cellular response to insulin stimulus, animal organ regeneration, purine ribonucleoside monophosphate biosynthetic process, nucleoside metabolic process, purine nucleobase biosynthetic process, lactation, glutamine catabolic process, 'de novo' IMP biosynthetic process, purine nucleotide biosynthetic process, kidney development, G1/S transition of mitotic cell cycle, 12 7 25 35 14 23 22 4 16 ENSG00000128159 chr22 50217689 50244992 - TUBGCP6 protein_coding The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]. 85378 GO:0016020, GO:0008275, GO:0008274, GO:0008274, GO:0005874, GO:0005829, GO:0005813, GO:0005813, GO:0000930, GO:0000923, GO:0000922, membrane, gamma-tubulin small complex, gamma-tubulin ring complex, gamma-tubulin ring complex, microtubule, cytosol, centrosome, centrosome, gamma-tubulin complex, equatorial microtubule organizing center, spindle pole, GO:0051011, GO:0043015, GO:0008017, microtubule minus-end binding, gamma-tubulin binding, microtubule binding, GO:0051415, GO:0051321, GO:0051225, GO:0031122, GO:0007020, GO:0000278, microtubule nucleation by interphase microtubule organizing center, meiotic cell cycle, spindle assembly, cytoplasmic microtubule organization, microtubule nucleation, mitotic cell cycle, 428 477 605 621 527 666 632 436 531 ENSG00000128165 chr22 50481556 50486440 + ADM2 protein_coding This gene encodes a member of the calcitonin gene-related peptide (CGRP)/calcitonin family of hormones that play a role in the regulation of cardiovascular homeostasis, prolactin release, anti-diuresis, anti-natriuresis, and regulation of food and water intake. The encoded protein is proteolytically processed to generate one or more biologically active peptides. [provided by RefSeq, Jul 2015]. 79924 GO:0005576, extracellular region, GO:0044877, GO:0005179, protein-containing complex binding, hormone activity, GO:0045776, GO:0045766, GO:0010628, GO:0007631, GO:0007586, GO:0007189, GO:0007186, GO:0006468, GO:0001525, negative regulation of blood pressure, positive regulation of angiogenesis, positive regulation of gene expression, feeding behavior, digestion, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, protein phosphorylation, angiogenesis, 18 11 45 6 4 6 15 7 14 ENSG00000128185 chr22 20314276 20320080 - DGCR6L protein_coding This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]. 85359 GO:0005634, nucleus, GO:0005515, protein binding, 40 44 71 59 38 78 46 52 77 ENSG00000128191 chr22 20080232 20111877 + DGCR8 protein_coding This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]. 54487 GO:0070877, GO:0070877, GO:0005737, GO:0005730, GO:0005654, GO:0005634, microprocessor complex, microprocessor complex, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0070878, GO:0070878, GO:0046872, GO:0042803, GO:0042802, GO:0020037, GO:0005515, GO:0004525, GO:0003725, GO:0003725, primary miRNA binding, primary miRNA binding, metal ion binding, protein homodimerization activity, identical protein binding, heme binding, protein binding, ribonuclease III activity, double-stranded RNA binding, double-stranded RNA binding, GO:0090502, GO:0031053, GO:0031053, GO:0010586, RNA phosphodiester bond hydrolysis, endonucleolytic, primary miRNA processing, primary miRNA processing, miRNA metabolic process, 85 81 141 138 178 245 163 95 137 ENSG00000128203 chr22 26429273 26445015 + ASPHD2 protein_coding 57168 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0051213, GO:0046872, dioxygenase activity, metal ion binding, GO:0055114, GO:0018193, oxidation-reduction process, peptidyl-amino acid modification, 29 21 58 14 15 36 21 14 27 ENSG00000128218 chr22 23752743 23754468 - VPREB3 protein_coding The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]. 29802 GO:0005783, GO:0005615, GO:0005576, endoplasmic reticulum, extracellular space, extracellular region, GO:0050900, GO:0006955, GO:0002377, leukocyte migration, immune response, immunoglobulin production, 5 2 0 1 5 4 0 0 4 ENSG00000128228 chr22 21642261 21644298 + SDF2L1 protein_coding 23753 GO:0034663, GO:0005789, GO:0005788, endoplasmic reticulum chaperone complex, endoplasmic reticulum membrane, endoplasmic reticulum lumen, GO:0051787, GO:0051117, GO:0051087, GO:0005515, GO:0004169, misfolded protein binding, ATPase binding, chaperone binding, protein binding, dolichyl-phosphate-mannose-protein mannosyltransferase activity, GO:0071712, GO:0042981, GO:0035269, ER-associated misfolded protein catabolic process, regulation of apoptotic process, protein O-linked mannosylation, 17 13 57 29 27 51 15 18 50 ENSG00000128242 chr22 30554635 30574587 - GAL3ST1 protein_coding Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 9514 GO:0016020, GO:0005887, GO:0000139, membrane, integral component of plasma membrane, Golgi membrane, GO:0050694, GO:0008146, GO:0001733, GO:0001733, GO:0001733, galactose 3-O-sulfotransferase activity, sulfotransferase activity, galactosylceramide sulfotransferase activity, galactosylceramide sulfotransferase activity, galactosylceramide sulfotransferase activity, GO:0046486, GO:0042552, GO:0007283, GO:0006682, GO:0006681, GO:0006665, GO:0006487, glycerolipid metabolic process, myelination, spermatogenesis, galactosylceramide biosynthetic process, galactosylceramide metabolic process, sphingolipid metabolic process, protein N-linked glycosylation, 0 0 0 2 0 0 0 0 0 ENSG00000128245 chr22 31944461 31957603 + YWHAH protein_coding This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]. 7533 GO:0070062, GO:0014704, GO:0005886, GO:0005829, GO:0005739, GO:0005737, extracellular exosome, intercalated disc, plasma membrane, cytosol, mitochondrion, cytoplasm, GO:0046982, GO:0044325, GO:0042802, GO:0035259, GO:0019904, GO:0019899, GO:0017080, GO:0005515, GO:0005159, GO:0003779, protein heterodimerization activity, ion channel binding, identical protein binding, glucocorticoid receptor binding, protein domain specific binding, enzyme binding, sodium channel regulator activity, protein binding, insulin-like growth factor receptor binding, actin binding, GO:2000649, GO:1900740, GO:0086010, GO:0061024, GO:0050774, GO:0048167, GO:0045893, GO:0045664, GO:0042921, GO:0021762, GO:0006886, GO:0006713, GO:0002028, regulation of sodium ion transmembrane transporter activity, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, membrane depolarization during action potential, membrane organization, negative regulation of dendrite morphogenesis, regulation of synaptic plasticity, positive regulation of transcription, DNA-templated, regulation of neuron differentiation, glucocorticoid receptor signaling pathway, substantia nigra development, intracellular protein transport, glucocorticoid catabolic process, regulation of sodium ion transport, 186 158 195 60 112 114 84 116 121 ENSG00000128250 chr22 29438583 29442455 + RFPL1 protein_coding 5988 GO:0005737, GO:0005654, GO:0000785, cytoplasm, nucleoplasm, chromatin, GO:0046872, GO:0004842, metal ion binding, ubiquitin-protein transferase activity, GO:2001272, GO:0051782, GO:0045930, GO:0045893, GO:0043065, GO:0032436, GO:0016567, GO:0010972, GO:0008285, GO:0007049, positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis, negative regulation of cell division, negative regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, positive regulation of apoptotic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, negative regulation of G2/M transition of mitotic cell cycle, negative regulation of cell population proliferation, cell cycle, 0 4 1 0 0 0 3 0 0 ENSG00000128253 chr22 32190435 32203477 - RFPL2 protein_coding 10739 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0046872, GO:0004842, metal ion binding, ubiquitin-protein transferase activity, GO:0045893, GO:0016567, positive regulation of transcription, DNA-templated, protein ubiquitination, 1 0 0 2 1 0 0 0 0 ENSG00000128254 chr22 31933521 31945518 - C22orf24 processed_transcript 25775 GO:0016021, integral component of membrane, 0 0 2 1 2 0 1 0 2 ENSG00000128262 chr22 24251828 24265525 + POM121L9P transcribed_unprocessed_pseudogene This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. [provided by RefSeq, Jul 2008]. 29774 0 2 0 0 2 0 5 0 0 ENSG00000128266 chr22 23070361 23125037 + GNAZ protein_coding The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]. 2781 GO:0044297, GO:0030425, GO:0005886, GO:0005834, GO:0005829, GO:0005783, GO:0005635, cell body, dendrite, plasma membrane, heterotrimeric G-protein complex, cytosol, endoplasmic reticulum, nuclear envelope, GO:0046872, GO:0031821, GO:0031683, GO:0005525, GO:0005515, GO:0003924, GO:0001664, metal ion binding, G protein-coupled serotonin receptor binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activity, G protein-coupled receptor binding, GO:0007193, GO:0007188, GO:0007186, GO:0006457, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, protein folding, 5 5 2 0 5 24 3 1 0 ENSG00000128268 chr22 39457344 39492194 + MGAT3 protein_coding There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 4248 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0016757, GO:0005515, GO:0003830, GO:0003830, GO:0003830, transferase activity, transferring glycosyl groups, protein binding, beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity, beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity, beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity, GO:1905166, GO:1902966, GO:0050890, GO:0050435, GO:0034599, GO:0030334, GO:0008104, GO:0006487, GO:0006044, negative regulation of lysosomal protein catabolic process, positive regulation of protein localization to early endosome, cognition, amyloid-beta metabolic process, cellular response to oxidative stress, regulation of cell migration, protein localization, protein N-linked glycosylation, N-acetylglucosamine metabolic process, 14 15 46 2 1 0 2 3 4 ENSG00000128271 chr22 24417879 24442360 + ADORA2A protein_coding This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]. 135 GO:0099056, GO:0099055, GO:0048786, GO:0043025, GO:0030673, GO:0030425, GO:0016020, GO:0014069, GO:0005887, GO:0005886, GO:0005886, GO:0005882, GO:0000139, integral component of presynaptic membrane, integral component of postsynaptic membrane, presynaptic active zone, neuronal cell body, axolemma, dendrite, membrane, postsynaptic density, integral component of plasma membrane, plasma membrane, plasma membrane, intermediate filament, Golgi membrane, GO:0051393, GO:0044877, GO:0042802, GO:0031802, GO:0019899, GO:0005515, GO:0001609, alpha-actinin binding, protein-containing complex binding, identical protein binding, type 5 metabotropic glutamate receptor binding, enzyme binding, protein binding, G protein-coupled adenosine receptor activity, GO:2001235, GO:1900273, GO:0060134, GO:0060080, GO:0060079, GO:0051968, GO:0051924, GO:0051899, GO:0051881, GO:0050728, GO:0050714, GO:0048812, GO:0048143, GO:0046636, GO:0045938, GO:0044267, GO:0043524, GO:0043154, GO:0043116, GO:0042755, GO:0042493, GO:0042311, GO:0040013, GO:0035815, GO:0035810, GO:0035249, GO:0032230, GO:0031000, GO:0014061, GO:0014057, GO:0014049, GO:0008285, GO:0008015, GO:0007626, GO:0007600, GO:0007596, GO:0007417, GO:0007271, GO:0007267, GO:0007205, GO:0007189, GO:0007188, GO:0007186, GO:0006968, GO:0006954, GO:0006915, GO:0006909, GO:0006469, GO:0006355, GO:0001975, GO:0001973, GO:0001963, positive regulation of apoptotic signaling pathway, positive regulation of long-term synaptic potentiation, prepulse inhibition, inhibitory postsynaptic potential, excitatory postsynaptic potential, positive regulation of synaptic transmission, glutamatergic, regulation of calcium ion transport, membrane depolarization, regulation of mitochondrial membrane potential, negative regulation of inflammatory response, positive regulation of protein secretion, neuron projection morphogenesis, astrocyte activation, negative regulation of alpha-beta T cell activation, positive regulation of circadian sleep/wake cycle, sleep, cellular protein metabolic process, negative regulation of neuron apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of vascular permeability, eating behavior, response to drug, vasodilation, negative regulation of locomotion, positive regulation of renal sodium excretion, positive regulation of urine volume, synaptic transmission, glutamatergic, positive regulation of synaptic transmission, GABAergic, response to caffeine, regulation of norepinephrine secretion, positive regulation of acetylcholine secretion, neurotransmission, positive regulation of glutamate secretion, negative regulation of cell population proliferation, blood circulation, locomotory behavior, sensory perception, blood coagulation, central nervous system development, synaptic transmission, cholinergic, cell-cell signaling, protein kinase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cellular defense response, inflammatory response, apoptotic process, phagocytosis, negative regulation of protein kinase activity, regulation of transcription, DNA-templated, response to amphetamine, G protein-coupled adenosine receptor signaling pathway, synaptic transmission, dopaminergic, 73 78 155 218 309 322 388 321 264 ENSG00000128272 chr22 39519695 39522685 + ATF4 protein_coding This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]. 468 GO:1990617, GO:1990617, GO:1990617, GO:1990590, GO:1990590, GO:1990589, GO:1990589, GO:1990037, GO:0043005, GO:0034399, GO:0032991, GO:0016607, GO:0005886, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, CHOP-ATF4 complex, CHOP-ATF4 complex, CHOP-ATF4 complex, ATF1-ATF4 transcription factor complex, ATF1-ATF4 transcription factor complex, ATF4-CREB1 transcription factor complex, ATF4-CREB1 transcription factor complex, Lewy body core, neuron projection, nuclear periphery, protein-containing complex, nuclear speck, plasma membrane, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0046982, GO:0043565, GO:0043522, GO:0019901, GO:0008140, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0003677, GO:0001228, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, GO:0000976, GO:0000976, sequence-specific double-stranded DNA binding, protein heterodimerization activity, sequence-specific DNA binding, leucine zipper domain binding, protein kinase binding, cAMP response element binding protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990440, GO:1990440, GO:1903351, GO:1903204, GO:0140468, GO:0140467, GO:0120163, GO:0070982, GO:0070309, GO:0070059, GO:0061395, GO:0048167, GO:0045944, GO:0045944, GO:0045944, GO:0045943, GO:0045893, GO:0045893, GO:0045893, GO:0045893, GO:0045667, GO:0043525, GO:0043065, GO:0042789, GO:0042149, GO:0036499, GO:0036499, GO:0036091, GO:0036091, GO:0036003, GO:0035162, GO:0034976, GO:0034976, GO:0034644, GO:0034599, GO:0034198, GO:0032922, GO:0032057, GO:0031667, GO:0030968, GO:0030282, GO:0010628, GO:0010575, GO:0006366, GO:0006357, GO:0006355, GO:0006094, GO:0000122, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, cellular response to dopamine, negative regulation of oxidative stress-induced neuron death, HRI-mediated signaling, integrated stress response signaling, negative regulation of cold-induced thermogenesis, L-asparagine metabolic process, lens fiber cell morphogenesis, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, positive regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance, regulation of synaptic plasticity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase I, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of osteoblast differentiation, positive regulation of neuron apoptotic process, positive regulation of apoptotic process, mRNA transcription by RNA polymerase II, cellular response to glucose starvation, PERK-mediated unfolded protein response, PERK-mediated unfolded protein response, positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress, positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress, positive regulation of transcription from RNA polymerase II promoter in response to stress, embryonic hemopoiesis, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, cellular response to UV, cellular response to oxidative stress, cellular response to amino acid starvation, circadian regulation of gene expression, negative regulation of translational initiation in response to stress, response to nutrient levels, endoplasmic reticulum unfolded protein response, bone mineralization, positive regulation of gene expression, positive regulation of vascular endothelial growth factor production, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, gluconeogenesis, negative regulation of transcription by RNA polymerase II, 1935 1968 2279 6393 9822 7138 4718 5155 4706 ENSG00000128274 chr22 42692112 42721298 - A4GALT protein_coding The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. 53947 GO:0030173, GO:0016020, integral component of Golgi membrane, membrane, GO:0050512, GO:0016758, GO:0015643, GO:0008378, GO:0008378, lactosylceramide 4-alpha-galactosyltransferase activity, transferase activity, transferring hexosyl groups, toxic substance binding, galactosyltransferase activity, galactosyltransferase activity, GO:0007009, GO:0006688, GO:0006688, GO:0001576, plasma membrane organization, glycosphingolipid biosynthetic process, glycosphingolipid biosynthetic process, globoside biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000128276 chr22 32354885 32361161 + RFPL3 protein_coding 10738 GO:0005737, GO:0005654, GO:0000785, cytoplasm, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0045893, GO:0016567, GO:0016032, positive regulation of transcription, DNA-templated, protein ubiquitination, viral process, 0 0 0 0 0 1 0 0 0 ENSG00000128283 chr22 37560447 37569405 + CDC42EP1 protein_coding CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]. 11135 GO:0012505, GO:0005925, GO:0005912, GO:0005886, GO:0005856, GO:0005737, endomembrane system, focal adhesion, adherens junction, plasma membrane, cytoskeleton, cytoplasm, GO:0098641, GO:0031267, GO:0005515, cadherin binding involved in cell-cell adhesion, small GTPase binding, protein binding, GO:0098609, GO:0031274, GO:0031274, GO:0030838, GO:0008360, GO:0008360, GO:0007266, cell-cell adhesion, positive regulation of pseudopodium assembly, positive regulation of pseudopodium assembly, positive regulation of actin filament polymerization, regulation of cell shape, regulation of cell shape, Rho protein signal transduction, 0 0 0 0 4 0 0 3 3 ENSG00000128284 chr22 36140330 36166177 - APOL3 protein_coding This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]. 80833 GO:0016020, GO:0005737, GO:0005576, membrane, cytoplasm, extracellular region, GO:0008289, GO:0005319, lipid binding, lipid transporter activity, GO:0043123, GO:0042157, GO:0006954, GO:0006869, positive regulation of I-kappaB kinase/NF-kappaB signaling, lipoprotein metabolic process, inflammatory response, lipid transport, 99 54 248 211 77 276 176 78 171 ENSG00000128285 chr22 40678750 40682814 + MCHR1 protein_coding The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]. 2847 GO:0097730, GO:0060170, GO:0043005, GO:0005929, GO:0005887, GO:0005886, non-motile cilium, ciliary membrane, neuron projection, cilium, integral component of plasma membrane, plasma membrane, GO:0042923, GO:0042562, GO:0042277, GO:0030273, GO:0008188, GO:0008022, GO:0005102, GO:0004930, neuropeptide binding, hormone binding, peptide binding, melanin-concentrating hormone receptor activity, neuropeptide receptor activity, protein C-terminus binding, signaling receptor binding, G protein-coupled receptor activity, GO:0051928, GO:0007631, GO:0007218, GO:0007204, GO:0007193, GO:0007186, GO:0007166, GO:0006091, positive regulation of calcium ion transport, feeding behavior, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, generation of precursor metabolites and energy, 2 1 0 3 0 0 0 0 0 ENSG00000128294 chr22 26521983 26596717 - TPST2 protein_coding The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]. 8459 GO:0016021, GO:0005794, GO:0005783, GO:0000139, integral component of membrane, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0042803, GO:0008476, GO:0008476, GO:0008146, protein homodimerization activity, protein-tyrosine sulfotransferase activity, protein-tyrosine sulfotransferase activity, sulfotransferase activity, GO:0050427, GO:0006478, GO:0006478, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, peptidyl-tyrosine sulfation, peptidyl-tyrosine sulfation, 409 299 624 247 246 407 264 256 263 ENSG00000128298 chr22 38084889 38110670 - BAIAP2L2 protein_coding The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]. 80115 GO:0071439, GO:0044291, GO:0030659, GO:0012506, GO:0005886, GO:0005829, GO:0005654, clathrin complex, cell-cell contact zone, cytoplasmic vesicle membrane, vesicle membrane, plasma membrane, cytosol, nucleoplasm, GO:0005543, phospholipid binding, GO:2000251, GO:0061024, GO:0051764, GO:0051017, GO:0030838, GO:0007009, positive regulation of actin cytoskeleton reorganization, membrane organization, actin crosslink formation, actin filament bundle assembly, positive regulation of actin filament polymerization, plasma membrane organization, 4 2 5 9 4 6 6 8 24 ENSG00000128309 chr22 37019635 37029822 + MPST protein_coding This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 4357 GO:0070062, GO:0045202, GO:0043005, GO:0005829, GO:0005759, GO:0005739, extracellular exosome, synapse, neuron projection, cytosol, mitochondrial matrix, mitochondrion, GO:0042802, GO:0016784, GO:0016784, GO:0005515, GO:0004792, identical protein binding, 3-mercaptopyruvate sulfurtransferase activity, 3-mercaptopyruvate sulfurtransferase activity, protein binding, thiosulfate sulfurtransferase activity, GO:0070814, GO:0021510, GO:0019346, GO:0009636, GO:0009440, GO:0001889, GO:0001822, GO:0000098, hydrogen sulfide biosynthetic process, spinal cord development, transsulfuration, response to toxic substance, cyanate catabolic process, liver development, kidney development, sulfur amino acid catabolic process, 86 72 108 45 73 84 68 56 75 ENSG00000128310 chr22 37823382 37825495 + GALR3 protein_coding The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008]. 8484 GO:0097730, GO:0045202, GO:0016021, GO:0005929, GO:0005887, GO:0005886, non-motile cilium, synapse, integral component of membrane, cilium, integral component of plasma membrane, plasma membrane, GO:0017046, GO:0017046, GO:0008528, GO:0004966, GO:0004966, peptide hormone binding, peptide hormone binding, G protein-coupled peptide receptor activity, galanin receptor activity, galanin receptor activity, GO:0090663, GO:0045944, GO:0007631, GO:0007611, GO:0007268, GO:0007218, GO:0007194, GO:0007188, GO:0007187, GO:0007186, galanin-activated signaling pathway, positive regulation of transcription by RNA polymerase II, feeding behavior, learning or memory, chemical synaptic transmission, neuropeptide signaling pathway, negative regulation of adenylate cyclase activity, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000128311 chr22 37010859 37020183 - TST protein_coding This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 7263 GO:0005759, GO:0005739, GO:0005739, GO:0005615, mitochondrial matrix, mitochondrion, mitochondrion, extracellular space, GO:0008097, GO:0004792, GO:0004792, 5S rRNA binding, thiosulfate sulfurtransferase activity, thiosulfate sulfurtransferase activity, GO:0051029, GO:0035928, GO:0030855, GO:0019346, GO:0009440, GO:0000098, rRNA transport, rRNA import into mitochondrion, epithelial cell differentiation, transsulfuration, cyanate catabolic process, sulfur amino acid catabolic process, 123 100 95 72 152 88 60 106 74 ENSG00000128313 chr22 35717872 35729483 + APOL5 protein_coding This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]. 80831 GO:0005737, GO:0005576, GO:0005575, cytoplasm, extracellular region, cellular_component, GO:0008289, GO:0008035, lipid binding, high-density lipoprotein particle binding, GO:0042157, GO:0006869, GO:0006629, lipoprotein metabolic process, lipid transport, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000128322 chr22 23573125 23580308 - IGLL1 protein_coding The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3543 GO:0042571, GO:0016020, GO:0009897, GO:0005783, GO:0005576, immunoglobulin complex, circulating, membrane, external side of plasma membrane, endoplasmic reticulum, extracellular region, GO:0034987, GO:0005515, GO:0003823, immunoglobulin receptor binding, protein binding, antigen binding, GO:0050900, GO:0050871, GO:0050853, GO:0045087, GO:0042742, GO:0006958, GO:0006955, GO:0006911, GO:0006910, leukocyte migration, positive regulation of B cell activation, B cell receptor signaling pathway, innate immune response, defense response to bacterium, complement activation, classical pathway, immune response, phagocytosis, engulfment, phagocytosis, recognition, 0 0 0 0 0 0 0 1 3 ENSG00000128335 chr22 36226203 36239954 - APOL2 protein_coding This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 23780 GO:0016020, GO:0005789, GO:0005576, membrane, endoplasmic reticulum membrane, extracellular region, GO:0008289, GO:0008289, GO:0008035, GO:0005515, GO:0005102, lipid binding, lipid binding, high-density lipoprotein particle binding, protein binding, signaling receptor binding, GO:0060135, GO:0042157, GO:0008203, GO:0007275, GO:0006953, GO:0006869, GO:0006629, maternal process involved in female pregnancy, lipoprotein metabolic process, cholesterol metabolic process, multicellular organism development, acute-phase response, lipid transport, lipid metabolic process, 1731 1414 1826 2010 2279 2015 2345 1742 1467 ENSG00000128340 chr22 37225261 37244448 - RAC2 protein_coding This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]. 5880 GO:0070062, GO:0043231, GO:0042995, GO:0031410, GO:0030670, GO:0030027, GO:0005938, GO:0005925, GO:0005886, GO:0005886, GO:0005884, GO:0005856, GO:0005829, GO:0005829, GO:0005635, extracellular exosome, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, phagocytic vesicle membrane, lamellipodium, cell cortex, focal adhesion, plasma membrane, plasma membrane, actin filament, cytoskeleton, cytosol, cytosol, nuclear envelope, GO:0019901, GO:0019887, GO:0005525, GO:0005525, GO:0005515, GO:0003924, protein kinase binding, protein kinase regulator activity, GTP binding, GTP binding, protein binding, GTPase activity, GO:1903955, GO:1902622, GO:1902622, GO:0090023, GO:0071593, GO:0060753, GO:0060263, GO:0051897, GO:0051056, GO:0045859, GO:0045454, GO:0045453, GO:0043652, GO:0043304, GO:0042129, GO:0032956, GO:0030865, GO:0030031, GO:0016601, GO:0010810, GO:0010592, GO:0010310, GO:0008360, GO:0008284, GO:0008045, GO:0007186, GO:0007165, GO:0007163, GO:0007015, GO:0007015, positive regulation of protein targeting to mitochondrion, regulation of neutrophil migration, regulation of neutrophil migration, positive regulation of neutrophil chemotaxis, lymphocyte aggregation, regulation of mast cell chemotaxis, regulation of respiratory burst, positive regulation of protein kinase B signaling, regulation of small GTPase mediated signal transduction, regulation of protein kinase activity, cell redox homeostasis, bone resorption, engulfment of apoptotic cell, regulation of mast cell degranulation, regulation of T cell proliferation, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, cell projection assembly, Rac protein signal transduction, regulation of cell-substrate adhesion, positive regulation of lamellipodium assembly, regulation of hydrogen peroxide metabolic process, regulation of cell shape, positive regulation of cell population proliferation, motor neuron axon guidance, G protein-coupled receptor signaling pathway, signal transduction, establishment or maintenance of cell polarity, actin filament organization, actin filament organization, 6734 6437 9639 2200 4379 4288 3242 4285 4149 ENSG00000128342 chr22 30240447 30246851 - LIF protein_coding The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. 3976 GO:0005829, GO:0005615, GO:0005615, GO:0005576, cytosol, extracellular space, extracellular space, extracellular region, GO:0008083, GO:0008083, GO:0005515, GO:0005146, GO:0005146, GO:0005146, GO:0005125, GO:0005125, GO:0005102, growth factor activity, growth factor activity, protein binding, leukemia inhibitory factor receptor binding, leukemia inhibitory factor receptor binding, leukemia inhibitory factor receptor binding, cytokine activity, cytokine activity, signaling receptor binding, GO:1903025, GO:1901676, GO:1900182, GO:0072307, GO:0072108, GO:0070373, GO:0060707, GO:0060463, GO:0060426, GO:0050731, GO:0048863, GO:0048861, GO:0048861, GO:0048711, GO:0048666, GO:0048644, GO:0048286, GO:0046888, GO:0046697, GO:0045944, GO:0045944, GO:0045835, GO:0045651, GO:0045595, GO:0043410, GO:0042531, GO:0033630, GO:0033141, GO:0033138, GO:0019827, GO:0019221, GO:0008285, GO:0008284, GO:0008284, GO:0007566, GO:0007275, GO:0007260, GO:0006955, GO:0001974, regulation of RNA polymerase II regulatory region sequence-specific DNA binding, positive regulation of histone H3-K27 acetylation, positive regulation of protein localization to nucleus, regulation of metanephric nephron tubule epithelial cell differentiation, positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis, negative regulation of ERK1 and ERK2 cascade, trophoblast giant cell differentiation, lung lobe morphogenesis, lung vasculature development, positive regulation of peptidyl-tyrosine phosphorylation, stem cell differentiation, leukemia inhibitory factor signaling pathway, leukemia inhibitory factor signaling pathway, positive regulation of astrocyte differentiation, neuron development, muscle organ morphogenesis, lung alveolus development, negative regulation of hormone secretion, decidualization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of meiotic nuclear division, positive regulation of macrophage differentiation, regulation of cell differentiation, positive regulation of MAPK cascade, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of cell adhesion mediated by integrin, positive regulation of peptidyl-serine phosphorylation of STAT protein, positive regulation of peptidyl-serine phosphorylation, stem cell population maintenance, cytokine-mediated signaling pathway, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, embryo implantation, multicellular organism development, tyrosine phosphorylation of STAT protein, immune response, blood vessel remodeling, 55 92 92 45 46 112 147 106 194 ENSG00000128346 chr22 37943050 37953669 - C22orf23 protein_coding 84645 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 24 33 19 24 45 38 16 38 32 ENSG00000128383 chr22 38952741 38992778 + APOBEC3A protein_coding This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]. 200315 GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000932, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, P-body, GO:0047844, GO:0047844, GO:0008270, GO:0005515, GO:0004126, GO:0004126, GO:0004126, GO:0003723, deoxycytidine deaminase activity, deoxycytidine deaminase activity, zinc ion binding, protein binding, cytidine deaminase activity, cytidine deaminase activity, cytidine deaminase activity, RNA binding, GO:0080111, GO:0080111, GO:0071466, GO:0070383, GO:0070383, GO:0070383, GO:0051607, GO:0051607, GO:0045869, GO:0045087, GO:0045071, GO:0044355, GO:0016554, GO:0010529, GO:0010529, GO:0009972, DNA demethylation, DNA demethylation, cellular response to xenobiotic stimulus, DNA cytosine deamination, DNA cytosine deamination, DNA cytosine deamination, defense response to virus, defense response to virus, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, innate immune response, negative regulation of viral genome replication, clearance of foreign intracellular DNA, cytidine to uridine editing, negative regulation of transposition, negative regulation of transposition, cytidine deamination, 2024 1019 1187 1890 1215 1096 1899 1017 1071 ENSG00000128394 chr22 39040604 39053910 + APOBEC3F protein_coding This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 200316 GO:1990904, GO:0030895, GO:0005737, GO:0005737, GO:0005634, GO:0000932, GO:0000932, ribonucleoprotein complex, apolipoprotein B mRNA editing enzyme complex, cytoplasm, cytoplasm, nucleus, P-body, P-body, GO:0047844, GO:0042802, GO:0008270, GO:0005515, GO:0004126, GO:0004126, GO:0003723, GO:0003723, GO:0003723, deoxycytidine deaminase activity, identical protein binding, zinc ion binding, protein binding, cytidine deaminase activity, cytidine deaminase activity, RNA binding, RNA binding, RNA binding, GO:0080111, GO:0080111, GO:0070383, GO:0070383, GO:0051607, GO:0051607, GO:0048525, GO:0045869, GO:0045869, GO:0045087, GO:0045071, GO:0016554, GO:0016553, GO:0010529, GO:0010529, GO:0009972, GO:0002230, DNA demethylation, DNA demethylation, DNA cytosine deamination, DNA cytosine deamination, defense response to virus, defense response to virus, negative regulation of viral process, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, innate immune response, negative regulation of viral genome replication, cytidine to uridine editing, base conversion or substitution editing, negative regulation of transposition, negative regulation of transposition, cytidine deamination, positive regulation of defense response to virus by host, 29 40 48 29 51 25 37 13 21 ENSG00000128408 chr22 45413691 45432496 + RIBC2 protein_coding 26150 GO:0005634, nucleus, GO:0005515, protein binding, 0 0 1 0 2 0 0 0 0 ENSG00000128422 chr17 41619441 41624842 - KRT17 protein_coding This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]. 3872 GO:0071944, GO:0045111, GO:0005882, GO:0005829, cell periphery, intermediate filament cytoskeleton, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0051798, GO:0045727, GO:0045109, GO:0031424, GO:0031069, GO:0030307, cornification, positive regulation of hair follicle development, positive regulation of translation, intermediate filament organization, keratinization, hair follicle morphogenesis, positive regulation of cell growth, 0 0 0 0 2 0 2 1 0 ENSG00000128438 chr17 16922915 16934839 - TBC1D27P transcribed_unprocessed_pseudogene 0 0 1 0 0 6 0 0 3 ENSG00000128463 chr15 34224999 34230156 + EMC4 protein_coding 51234 GO:0072546, GO:0072546, GO:0016021, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, integral component of membrane, GO:0005515, protein binding, GO:0006915, apoptotic process, 213 200 199 140 163 209 115 147 125 ENSG00000128482 chr17 19411125 19417276 + RNF112 protein_coding This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 7732 GO:0044297, GO:0043204, GO:0043005, GO:0019898, GO:0016604, GO:0016021, GO:0014069, GO:0008021, GO:0005768, GO:0005737, GO:0005654, GO:0005634, cell body, perikaryon, neuron projection, extrinsic component of membrane, nuclear body, integral component of membrane, postsynaptic density, synaptic vesicle, endosome, cytoplasm, nucleoplasm, nucleus, GO:0061630, GO:0043621, GO:0008270, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, ubiquitin protein ligase activity, protein self-association, zinc ion binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1990403, GO:0071158, GO:0051865, GO:0051260, GO:0045687, GO:0045666, GO:0036474, GO:0036473, GO:0033194, GO:0030182, GO:0007050, GO:0007029, embryonic brain development, positive regulation of cell cycle arrest, protein autoubiquitination, protein homooligomerization, positive regulation of glial cell differentiation, positive regulation of neuron differentiation, cell death in response to hydrogen peroxide, cell death in response to oxidative stress, response to hydroperoxide, neuron differentiation, cell cycle arrest, endoplasmic reticulum organization, 15 18 15 31 37 47 30 19 5 ENSG00000128487 chr17 20009344 20319026 + SPECC1 protein_coding The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 92521 GO:0043231, GO:0031941, GO:0016020, GO:0005829, GO:0005815, GO:0005654, GO:0001650, intracellular membrane-bounded organelle, filamentous actin, membrane, cytosol, microtubule organizing center, nucleoplasm, fibrillar center, GO:0030036, actin cytoskeleton organization, 521 726 488 270 593 363 333 487 284 ENSG00000128510 chr7 130293134 130324180 + CPA4 protein_coding This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq, Jul 2008]. 51200 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0008270, GO:0004181, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, metallocarboxypeptidase activity, GO:0016573, GO:0006508, histone acetylation, proteolysis, 0 0 0 0 0 6 0 0 0 ENSG00000128512 chr7 111726110 112206411 - DOCK4 protein_coding This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]. 9732 GO:0032421, GO:0032420, GO:0016020, GO:0005886, GO:0005829, GO:0005794, GO:0005730, stereocilium bundle, stereocilium, membrane, plasma membrane, cytosol, Golgi apparatus, nucleolus, GO:0031267, GO:0030971, GO:0030165, GO:0017124, GO:0005515, GO:0005096, GO:0005085, small GTPase binding, receptor tyrosine kinase binding, PDZ domain binding, SH3 domain binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:1904754, GO:1904694, GO:0060326, GO:0043547, GO:0007264, positive regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle contraction, cell chemotaxis, positive regulation of GTPase activity, small GTPase mediated signal transduction, 555 599 469 227 472 336 299 387 298 ENSG00000128513 chr7 124822386 124929983 - POT1 protein_coding This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]. 25913 GO:0070187, GO:0070187, GO:0070187, GO:0005654, GO:0005654, GO:0000783, GO:0000783, GO:0000781, GO:0000781, shelterin complex, shelterin complex, shelterin complex, nucleoplasm, nucleoplasm, nuclear telomere cap complex, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, GO:1990955, GO:1905773, GO:0098505, GO:0098505, GO:0061849, GO:0061821, GO:0043047, GO:0043047, GO:0042162, GO:0017151, GO:0010521, GO:0010521, GO:0005515, G-rich single-stranded DNA binding, 8-hydroxy-2'-deoxyguanosine DNA binding, G-rich strand telomeric DNA binding, G-rich strand telomeric DNA binding, telomeric G-quadruplex DNA binding, telomeric D-loop binding, single-stranded telomeric DNA binding, single-stranded telomeric DNA binding, telomeric DNA binding, DEAD/H-box RNA helicase binding, telomerase inhibitor activity, telomerase inhibitor activity, protein binding, GO:2001032, GO:1905776, GO:1905774, GO:0070200, GO:0061820, GO:0060383, GO:0051974, GO:0051974, GO:0051973, GO:0051973, GO:0051096, GO:0032508, GO:0032212, GO:0032212, GO:0032211, GO:0032211, GO:0032210, GO:0032210, GO:0032202, GO:0016233, GO:0016233, GO:0016233, GO:0016233, GO:0007004, regulation of double-strand break repair via nonhomologous end joining, positive regulation of DNA helicase activity, regulation of DNA helicase activity, establishment of protein localization to telomere, telomeric D-loop disassembly, positive regulation of DNA strand elongation, negative regulation of telomerase activity, negative regulation of telomerase activity, positive regulation of telomerase activity, positive regulation of telomerase activity, positive regulation of helicase activity, DNA duplex unwinding, positive regulation of telomere maintenance via telomerase, positive regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, regulation of telomere maintenance via telomerase, regulation of telomere maintenance via telomerase, telomere assembly, telomere capping, telomere capping, telomere capping, telomere capping, telomere maintenance via telomerase, 101 85 163 64 95 104 97 73 60 ENSG00000128519 chr7 122994704 122995700 - TAS2R16 protein_coding This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. 50833 GO:0016021, GO:0016021, GO:0009897, GO:0005886, GO:0005802, GO:0005783, integral component of membrane, integral component of membrane, external side of plasma membrane, plasma membrane, trans-Golgi network, endoplasmic reticulum, GO:0033038, GO:0033038, GO:0005515, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, protein binding, G protein-coupled receptor activity, GO:0007186, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000128524 chr7 128862826 128865844 + ATP6V1F protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]. 9296 GO:0070062, GO:0033180, GO:0016471, GO:0016469, GO:0016020, GO:0016020, GO:0005829, extracellular exosome, proton-transporting V-type ATPase, V1 domain, vacuolar proton-transporting V-type ATPase complex, proton-transporting two-sector ATPase complex, membrane, membrane, cytosol, GO:0046961, GO:0042625, GO:0016887, GO:0015078, GO:0005515, proton-transporting ATPase activity, rotational mechanism, ATPase-coupled ion transmembrane transporter activity, ATPase activity, proton transmembrane transporter activity, protein binding, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0008286, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, insulin receptor signaling pathway, 126 146 123 185 278 330 193 240 229 ENSG00000128534 chr7 118184032 118192824 + LSM8 protein_coding This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]. 51691 GO:0120115, GO:0071011, GO:0071005, GO:0046540, GO:0046540, GO:0005688, GO:0005654, GO:0005634, Lsm2-8 complex, precatalytic spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, U6 snRNP, nucleoplasm, nucleus, GO:0017070, GO:0005515, GO:0003723, GO:0003723, U6 snRNA binding, protein binding, RNA binding, RNA binding, GO:0016070, GO:0000398, GO:0000398, GO:0000398, RNA metabolic process, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 179 169 295 223 185 227 252 151 205 ENSG00000128536 chr7 105876796 106033773 + CDHR3 protein_coding 222256 GO:0016342, GO:0016021, GO:0005912, GO:0005886, catenin complex, integral component of membrane, adherens junction, plasma membrane, GO:0045296, GO:0005515, GO:0005509, GO:0001618, cadherin binding, protein binding, calcium ion binding, virus receptor activity, GO:0098742, GO:0046718, GO:0034332, GO:0016339, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, viral entry into host cell, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 2 2 9 18 2 14 17 3 32 ENSG00000128563 chr7 102363872 102426676 + PRKRIP1 protein_coding 79706 GO:0070062, GO:0005730, GO:0005730, GO:0005681, extracellular exosome, nucleolus, nucleolus, spliceosomal complex, GO:0019901, GO:0019901, GO:0005515, GO:0004860, GO:0004860, GO:0003725, GO:0003725, protein kinase binding, protein kinase binding, protein binding, protein kinase inhibitor activity, protein kinase inhibitor activity, double-stranded RNA binding, double-stranded RNA binding, GO:0042326, GO:0008380, GO:0006469, GO:0006469, GO:0006397, GO:0003014, negative regulation of phosphorylation, RNA splicing, negative regulation of protein kinase activity, negative regulation of protein kinase activity, mRNA processing, renal system process, 364 297 365 158 194 209 162 165 181 ENSG00000128564 chr7 101162509 101165593 - VGF protein_coding This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008]. 7425 GO:0043231, GO:0031410, GO:0030133, GO:0005794, GO:0005788, GO:0005615, GO:0005615, intracellular membrane-bounded organelle, cytoplasmic vesicle, transport vesicle, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, extracellular space, GO:0008083, GO:0005184, GO:0005179, GO:0003674, growth factor activity, neuropeptide hormone activity, hormone activity, molecular_function, GO:0051591, GO:0048167, GO:0044267, GO:0043687, GO:0042742, GO:0042593, GO:0033500, GO:0032868, GO:0030073, GO:0019953, GO:0009409, GO:0007165, GO:0006091, GO:0002021, GO:0001541, response to cAMP, regulation of synaptic plasticity, cellular protein metabolic process, post-translational protein modification, defense response to bacterium, glucose homeostasis, carbohydrate homeostasis, response to insulin, insulin secretion, sexual reproduction, response to cold, signal transduction, generation of precursor metabolites and energy, response to dietary excess, ovarian follicle development, 0 0 0 81 136 109 54 46 60 ENSG00000128567 chr7 131500262 131558217 - PODXL protein_coding This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008]. 5420 GO:0070062, GO:0070062, GO:0045121, GO:0043231, GO:0036057, GO:0034451, GO:0031528, GO:0031528, GO:0030175, GO:0030027, GO:0016324, GO:0016324, GO:0005887, GO:0005886, GO:0005737, GO:0005730, GO:0005615, GO:0001726, extracellular exosome, extracellular exosome, membrane raft, intracellular membrane-bounded organelle, slit diaphragm, centriolar satellite, microvillus membrane, microvillus membrane, filopodium, lamellipodium, apical plasma membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, nucleolus, extracellular space, ruffle, GO:0005515, protein binding, GO:0072175, GO:0072015, GO:0033634, GO:0033634, GO:0032534, GO:0032534, GO:0030335, GO:0022408, GO:0022408, GO:0016477, GO:0016477, GO:0007162, GO:0007155, epithelial tube formation, glomerular visceral epithelial cell development, positive regulation of cell-cell adhesion mediated by integrin, positive regulation of cell-cell adhesion mediated by integrin, regulation of microvillus assembly, regulation of microvillus assembly, positive regulation of cell migration, negative regulation of cell-cell adhesion, negative regulation of cell-cell adhesion, cell migration, cell migration, negative regulation of cell adhesion, cell adhesion, 11 18 11 19 39 33 30 32 25 ENSG00000128573 chr7 114086327 114693772 + FOXP2 protein_coding This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]. 93986 GO:0005634, GO:0000785, nucleus, chromatin, GO:0050681, GO:0046872, GO:0043565, GO:0042803, GO:0042802, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, androgen receptor binding, metal ion binding, sequence-specific DNA binding, protein homodimerization activity, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0098582, GO:0060501, GO:0060013, GO:0048745, GO:0048286, GO:0045892, GO:0043010, GO:0042297, GO:0033574, GO:0021987, GO:0021758, GO:0021757, GO:0021549, GO:0009791, GO:0007519, GO:0006357, GO:0002053, GO:0000122, innate vocalization behavior, positive regulation of epithelial cell proliferation involved in lung morphogenesis, righting reflex, smooth muscle tissue development, lung alveolus development, negative regulation of transcription, DNA-templated, camera-type eye development, vocal learning, response to testosterone, cerebral cortex development, putamen development, caudate nucleus development, cerebellum development, post-embryonic development, skeletal muscle tissue development, regulation of transcription by RNA polymerase II, positive regulation of mesenchymal cell proliferation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000128578 chr7 129434433 129488399 + STRIP2 protein_coding 57464 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0003674, molecular_function, GO:0016477, GO:0008360, GO:0007010, GO:0007010, cell migration, regulation of cell shape, cytoskeleton organization, cytoskeleton organization, 0 2 2 3 0 0 3 2 0 ENSG00000128581 chr7 101313367 101321823 - IFT22 protein_coding 64792 GO:0097542, GO:0030992, GO:0012505, GO:0005929, GO:0005813, ciliary tip, intraciliary transport particle B, endomembrane system, cilium, centrosome, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0035735, GO:0006886, intraciliary transport involved in cilium assembly, intracellular protein transport, 1 0 1 2 0 10 0 0 13 ENSG00000128585 chr7 131110096 131496636 + MKLN1 protein_coding Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]. 4289 GO:0098794, GO:0005938, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0001726, GO:0000151, postsynapse, cell cortex, cytosol, cytoplasm, cytoplasm, nucleoplasm, ruffle, ubiquitin ligase complex, GO:0042803, GO:0042802, GO:0005515, protein homodimerization activity, identical protein binding, protein binding, GO:0031532, GO:0008360, GO:0007165, GO:0007160, GO:0002090, actin cytoskeleton reorganization, regulation of cell shape, signal transduction, cell-matrix adhesion, regulation of receptor internalization, 1959 1814 2155 989 1590 1316 1324 1132 1159 ENSG00000128590 chr7 108569568 108574850 + DNAJB9 protein_coding This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]. 4189 GO:0070062, GO:0005789, GO:0005788, GO:0005783, GO:0005737, GO:0005730, extracellular exosome, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, cytoplasm, nucleolus, GO:0051787, GO:0051087, GO:0030544, GO:0005515, misfolded protein binding, chaperone binding, Hsp70 protein binding, protein binding, GO:1903895, GO:0036498, GO:0034976, GO:0030433, GO:0030183, GO:0002377, negative regulation of IRE1-mediated unfolded protein response, IRE1-mediated unfolded protein response, response to endoplasmic reticulum stress, ubiquitin-dependent ERAD pathway, B cell differentiation, immunoglobulin production, 548 925 672 2273 2561 2065 1936 1943 1305 ENSG00000128591 chr7 128830377 128859274 + FLNC protein_coding This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2318 GO:0043034, GO:0042383, GO:0030018, GO:0016528, GO:0005925, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, costamere, sarcolemma, Z disc, sarcoplasm, focal adhesion, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, GO:0030506, GO:0008092, GO:0005515, GO:0003779, ankyrin binding, cytoskeletal protein binding, protein binding, actin binding, GO:0048747, GO:0034329, muscle fiber development, cell junction assembly, 0 0 0 14 17 50 11 10 34 ENSG00000128594 chr7 128027071 128032107 - LRRC4 protein_coding This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]. 64101 GO:0099061, GO:0098978, GO:0098685, GO:0060076, GO:0043197, integral component of postsynaptic density membrane, glutamatergic synapse, Schaffer collateral - CA1 synapse, excitatory synapse, dendritic spine, GO:0005515, protein binding, GO:1904861, GO:0099560, GO:0097119, GO:0050804, excitatory synapse assembly, synaptic membrane adhesion, postsynaptic density protein 95 clustering, modulation of chemical synaptic transmission, 1383 991 1274 220 435 339 337 443 353 ENSG00000128595 chr7 128739292 128771807 + CALU protein_coding The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]. 813 GO:0042470, GO:0033018, GO:0016020, GO:0005794, GO:0005789, GO:0005788, GO:0005783, GO:0005783, GO:0005576, melanosome, sarcoplasmic reticulum lumen, membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, extracellular region, GO:0005515, GO:0005509, GO:0005509, protein binding, calcium ion binding, calcium ion binding, GO:0044267, GO:0043687, GO:0008150, cellular protein metabolic process, post-translational protein modification, biological_process, 65 94 98 164 63 134 128 53 86 ENSG00000128596 chr7 128790757 128822132 + CCDC136 protein_coding 64753 GO:0016021, GO:0002080, integral component of membrane, acrosomal membrane, GO:0007338, GO:0007283, GO:0001675, single fertilization, spermatogenesis, acrosome assembly, 6 12 8 17 6 9 17 1 2 ENSG00000128602 chr7 129188872 129213545 + SMO protein_coding The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]. 6608 GO:0097542, GO:0070062, GO:0060170, GO:0043231, GO:0030666, GO:0030425, GO:0016021, GO:0005929, GO:0005929, GO:0005929, GO:0005929, GO:0005901, GO:0005886, GO:0005886, GO:0005794, ciliary tip, extracellular exosome, ciliary membrane, intracellular membrane-bounded organelle, endocytic vesicle membrane, dendrite, integral component of membrane, cilium, cilium, cilium, cilium, caveola, plasma membrane, plasma membrane, Golgi apparatus, GO:0005515, GO:0005113, GO:0005113, GO:0004930, protein binding, patched binding, patched binding, G protein-coupled receptor activity, GO:2000826, GO:2000036, GO:0090190, GO:0072285, GO:0071679, GO:0071397, GO:0070986, GO:0061113, GO:0061053, GO:0060684, GO:0060644, GO:0060413, GO:0060242, GO:0051799, GO:0051451, GO:0050821, GO:0050679, GO:0048873, GO:0048853, GO:0048745, GO:0048741, GO:0048143, GO:0046622, GO:0045944, GO:0045880, GO:0043392, GO:0043066, GO:0042475, GO:0042307, GO:0040018, GO:0035264, GO:0034504, GO:0031069, GO:0030857, GO:0030335, GO:0021987, GO:0021953, GO:0021938, GO:0021910, GO:0021904, GO:0021794, GO:0021696, GO:0021542, GO:0010629, GO:0010628, GO:0010628, GO:0009952, GO:0007494, GO:0007417, GO:0007371, GO:0007228, GO:0007224, GO:0007224, GO:0007224, GO:0007186, GO:0003323, GO:0003140, GO:0002053, GO:0002052, GO:0001947, GO:0001755, GO:0001708, GO:0001701, GO:0001649, GO:0001570, GO:0000122, regulation of heart morphogenesis, regulation of stem cell population maintenance, positive regulation of branching involved in ureteric bud morphogenesis, mesenchymal to epithelial transition involved in metanephric renal vesicle formation, commissural neuron axon guidance, cellular response to cholesterol, left/right axis specification, pancreas morphogenesis, somite development, epithelial-mesenchymal cell signaling, mammary gland epithelial cell differentiation, atrial septum morphogenesis, contact inhibition, negative regulation of hair follicle development, myoblast migration, protein stabilization, positive regulation of epithelial cell proliferation, homeostasis of number of cells within a tissue, forebrain morphogenesis, smooth muscle tissue development, skeletal muscle fiber development, astrocyte activation, positive regulation of organ growth, positive regulation of transcription by RNA polymerase II, positive regulation of smoothened signaling pathway, negative regulation of DNA binding, negative regulation of apoptotic process, odontogenesis of dentin-containing tooth, positive regulation of protein import into nucleus, positive regulation of multicellular organism growth, multicellular organism growth, protein localization to nucleus, hair follicle morphogenesis, negative regulation of epithelial cell differentiation, positive regulation of cell migration, cerebral cortex development, central nervous system neuron differentiation, smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation, smoothened signaling pathway involved in ventral spinal cord patterning, dorsal/ventral neural tube patterning, thalamus development, cerebellar cortex morphogenesis, dentate gyrus development, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, anterior/posterior pattern specification, midgut development, central nervous system development, ventral midline determination, positive regulation of hh target transcription factor activity, smoothened signaling pathway, smoothened signaling pathway, smoothened signaling pathway, G protein-coupled receptor signaling pathway, type B pancreatic cell development, determination of left/right asymmetry in lateral mesoderm, positive regulation of mesenchymal cell proliferation, positive regulation of neuroblast proliferation, heart looping, neural crest cell migration, cell fate specification, in utero embryonic development, osteoblast differentiation, vasculogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 4 0 0 ENSG00000128604 chr7 128937612 128950035 + IRF5 protein_coding This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]. 3663 GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytosol, cytoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0042802, GO:0019901, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, identical protein binding, protein kinase binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060337, GO:0060333, GO:0051607, GO:0045944, GO:0045087, GO:0043065, GO:0032735, GO:0032728, GO:0032727, GO:0032495, GO:0032494, GO:0032481, GO:0019221, GO:0006954, GO:0006357, GO:0002376, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, positive regulation of transcription by RNA polymerase II, innate immune response, positive regulation of apoptotic process, positive regulation of interleukin-12 production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, response to muramyl dipeptide, response to peptidoglycan, positive regulation of type I interferon production, cytokine-mediated signaling pathway, inflammatory response, regulation of transcription by RNA polymerase II, immune system process, 63 37 103 46 69 71 66 58 63 ENSG00000128606 chr7 102912991 102944949 + LRRC17 protein_coding 10234 GO:0031012, GO:0005615, GO:0005615, extracellular matrix, extracellular space, extracellular space, GO:0048539, GO:0045671, GO:0033687, GO:0001649, bone marrow development, negative regulation of osteoclast differentiation, osteoblast proliferation, osteoblast differentiation, 47 49 31 31 34 30 21 39 15 ENSG00000128607 chr7 130070510 130135720 + KLHDC10 protein_coding 23008 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0032874, positive regulation of stress-activated MAPK cascade, 105 91 129 101 127 142 140 119 116 ENSG00000128609 chr7 123536997 123558255 - NDUFA5 protein_coding This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]. 4698 GO:0005747, GO:0005747, GO:0005747, GO:0005743, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0032981, GO:0032981, GO:0022904, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, respiratory electron transport chain, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 148 124 152 104 95 167 124 98 87 ENSG00000128610 chr7 122301394 122310691 - FEZF1 protein_coding This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 389549 GO:0005829, GO:0005654, GO:0000785, cytosol, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0001227, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0045666, GO:0043697, GO:0021797, GO:0021772, GO:0008285, GO:0007411, GO:0006357, GO:0001764, GO:0000122, positive regulation of transcription, DNA-templated, positive regulation of neuron differentiation, cell dedifferentiation, forebrain anterior/posterior pattern specification, olfactory bulb development, negative regulation of cell population proliferation, axon guidance, regulation of transcription by RNA polymerase II, neuron migration, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000128617 chr7 128772491 128775790 - OPN1SW protein_coding This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]. 611 GO:0097381, GO:0048471, GO:0005887, GO:0005886, GO:0001917, GO:0001750, photoreceptor disc membrane, perinuclear region of cytoplasm, integral component of plasma membrane, plasma membrane, photoreceptor inner segment, photoreceptor outer segment, GO:0038023, GO:0008020, GO:0005515, signaling receptor activity, G protein-coupled photoreceptor activity, protein binding, GO:0071492, GO:0071482, GO:0018298, GO:0009584, GO:0007602, GO:0007601, GO:0007186, GO:0007186, GO:0007165, GO:0001523, cellular response to UV-A, cellular response to light stimulus, protein-chromophore linkage, detection of visible light, phototransduction, visual perception, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, retinoid metabolic process, 0 0 0 3 2 6 0 1 0 ENSG00000128626 chr19 38930548 38933162 + MRPS12 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq, Jul 2008]. 6183 GO:0005840, GO:0005763, GO:0005763, GO:0005761, GO:0005743, ribosome, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 9 8 18 16 5 25 27 14 21 ENSG00000128641 chr2 191245185 191425389 + MYO1B protein_coding 4430 GO:0071944, GO:0070062, GO:0048471, GO:0045177, GO:0032588, GO:0031982, GO:0030175, GO:0016459, GO:0015629, GO:0010008, GO:0005903, GO:0005903, GO:0005902, GO:0005886, GO:0005886, GO:0005886, GO:0005884, GO:0005769, GO:0005737, GO:0005737, cell periphery, extracellular exosome, perinuclear region of cytoplasm, apical part of cell, trans-Golgi network membrane, vesicle, filopodium, myosin complex, actin cytoskeleton, endosome membrane, brush border, brush border, microvillus, plasma membrane, plasma membrane, plasma membrane, actin filament, early endosome, cytoplasm, cytoplasm, GO:0051015, GO:0051015, GO:0045296, GO:0030898, GO:0005547, GO:0005546, GO:0005524, GO:0005524, GO:0005516, GO:0005515, GO:0000146, GO:0000146, GO:0000146, actin filament binding, actin filament binding, cadherin binding, actin-dependent ATPase activity, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, ATP binding, ATP binding, calmodulin binding, protein binding, microfilament motor activity, microfilament motor activity, microfilament motor activity, GO:0051017, GO:0030050, GO:0030048, GO:0007015, GO:0007015, GO:0006892, actin filament bundle assembly, vesicle transport along actin filament, actin filament-based movement, actin filament organization, actin filament organization, post-Golgi vesicle-mediated transport, 1 2 0 2 2 0 0 0 0 ENSG00000128645 chr2 176188579 176190907 + HOXD1 protein_coding This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]. 3231 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048706, GO:0030182, GO:0019233, GO:0006357, GO:0006357, embryonic skeletal system development, neuron differentiation, sensory perception of pain, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000128652 chr2 176136612 176173102 + HOXD3 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]. 3232 GO:0016604, GO:0016235, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear body, aggresome, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0051216, GO:0048704, GO:0048704, GO:0045944, GO:0045666, GO:0030878, GO:0021615, GO:0010628, GO:0009952, GO:0009952, GO:0007219, GO:0007160, GO:0006357, GO:0006351, cartilage development, embryonic skeletal system morphogenesis, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, thyroid gland development, glossopharyngeal nerve morphogenesis, positive regulation of gene expression, anterior/posterior pattern specification, anterior/posterior pattern specification, Notch signaling pathway, cell-matrix adhesion, regulation of transcription by RNA polymerase II, transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000128654 chr2 176269395 176338025 + MTX2 protein_coding The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]. 10651 GO:0140275, GO:0005741, GO:0005739, GO:0005737, GO:0005730, GO:0001401, GO:0001401, MIB complex, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleolus, SAM complex, SAM complex, GO:0005515, protein binding, GO:0015031, GO:0007007, GO:0007005, GO:0006839, protein transport, inner mitochondrial membrane organization, mitochondrion organization, mitochondrial transport, 5 2 13 19 4 22 15 6 15 ENSG00000128655 chr2 177623252 178072755 - PDE11A protein_coding The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 50940 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0047555, GO:0046872, GO:0030553, GO:0004118, GO:0004118, GO:0004114, GO:0004112, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, cGMP binding, cGMP-stimulated cyclic-nucleotide phosphodiesterase activity, cGMP-stimulated cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, cyclic-nucleotide phosphodiesterase activity, GO:0043951, GO:0010754, GO:0008152, GO:0007186, GO:0007165, negative regulation of cAMP-mediated signaling, negative regulation of cGMP-mediated signaling, metabolic process, G protein-coupled receptor signaling pathway, signal transduction, 0 0 1 0 0 0 0 0 0 ENSG00000128656 chr2 174799363 175005369 - CHN1 protein_coding This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]. 1123 GO:0005829, cytosol, GO:0046875, GO:0046872, GO:0005515, GO:0005096, ephrin receptor binding, metal ion binding, protein binding, GTPase activator activity, GO:0051056, GO:0050770, GO:0048013, GO:0048013, GO:0043547, GO:0043087, GO:0035556, GO:0008045, regulation of small GTPase mediated signal transduction, regulation of axonogenesis, ephrin receptor signaling pathway, ephrin receptor signaling pathway, positive regulation of GTPase activity, regulation of GTPase activity, intracellular signal transduction, motor neuron axon guidance, 3 6 13 11 8 12 4 6 9 ENSG00000128683 chr2 170813213 170861151 + GAD1 protein_coding This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]. 2571 GO:0061202, GO:0060077, GO:0048786, GO:0043679, GO:0012506, GO:0005938, GO:0005886, clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, inhibitory synapse, presynaptic active zone, axon terminus, vesicle membrane, cell cortex, plasma membrane, GO:0047485, GO:0044877, GO:0030170, GO:0016595, GO:0005515, GO:0004351, protein N-terminus binding, protein-containing complex binding, pyridoxal phosphate binding, glutamate binding, protein binding, glutamate decarboxylase activity, GO:0042493, GO:0042136, GO:0035641, GO:0035176, GO:0018352, GO:0009449, GO:0007269, GO:0007268, GO:0006540, GO:0006538, response to drug, neurotransmitter biosynthetic process, locomotory exploration behavior, social behavior, protein-pyridoxal-5-phosphate linkage, gamma-aminobutyric acid biosynthetic process, neurotransmitter secretion, chemical synaptic transmission, glutamate decarboxylation to succinate, glutamate catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000128692 chr2 170751805 170752788 + EIF2S2P4 processed_pseudogene 12 14 19 14 10 19 14 12 24 ENSG00000128694 chr2 189746660 189763227 - OSGEPL1 protein_coding 64172 GO:0005739, GO:0005739, GO:0000408, mitochondrion, mitochondrion, EKC/KEOPS complex, GO:0061711, GO:0046872, N(6)-L-threonylcarbamoyladenine synthase activity, metal ion binding, GO:0002949, tRNA threonylcarbamoyladenosine modification, 8 8 11 36 28 27 15 12 22 ENSG00000128699 chr2 189770323 189784371 - ORMDL1 protein_coding 94101 GO:0035339, GO:0016021, GO:0005789, GO:0005783, SPOTS complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:1900060, GO:1900060, GO:0090156, GO:0006672, GO:0006672, negative regulation of ceramide biosynthetic process, negative regulation of ceramide biosynthetic process, cellular sphingolipid homeostasis, ceramide metabolic process, ceramide metabolic process, 374 263 347 326 252 406 299 205 297 ENSG00000128708 chr2 171922448 171983682 + HAT1 protein_coding The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2009]. 8520 GO:0032991, GO:0016363, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000781, protein-containing complex, nuclear matrix, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromosome, telomeric region, GO:0042393, GO:0010485, GO:0010485, GO:0005515, GO:0004402, histone binding, H4 histone acetyltransferase activity, H4 histone acetyltransferase activity, protein binding, histone acetyltransferase activity, GO:0043967, GO:0043967, GO:0007584, GO:0006475, GO:0006348, GO:0006336, GO:0006335, GO:0006323, histone H4 acetylation, histone H4 acetylation, response to nutrient, internal protein amino acid acetylation, chromatin silencing at telomere, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, DNA packaging, 696 478 814 396 325 401 353 291 237 ENSG00000128709 chr2 176122720 176124937 + HOXD9 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]. 3235 GO:0005730, GO:0005654, GO:0005634, GO:0000785, nucleolus, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0003700, GO:0001227, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048935, GO:0048704, GO:0035137, GO:0035115, GO:0030879, GO:0009954, GO:0009952, GO:0008344, GO:0007519, GO:0007338, GO:0006357, GO:0006351, GO:0000122, peripheral nervous system neuron development, embryonic skeletal system morphogenesis, hindlimb morphogenesis, embryonic forelimb morphogenesis, mammary gland development, proximal/distal pattern formation, anterior/posterior pattern specification, adult locomotory behavior, skeletal muscle tissue development, single fertilization, regulation of transcription by RNA polymerase II, transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000128710 chr2 176108790 176119942 + HOXD10 protein_coding This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as 'rocker-bottom foot' deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]. 3236 GO:0036464, GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytoplasmic ribonucleoprotein granule, cytosol, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0050905, GO:0048935, GO:0048704, GO:0045944, GO:0035137, GO:0035136, GO:0030326, GO:0021520, GO:0009954, GO:0009952, GO:0008344, GO:0007519, GO:0007338, GO:0006357, neuromuscular process, peripheral nervous system neuron development, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, hindlimb morphogenesis, forelimb morphogenesis, embryonic limb morphogenesis, spinal cord motor neuron cell fate specification, proximal/distal pattern formation, anterior/posterior pattern specification, adult locomotory behavior, skeletal muscle tissue development, single fertilization, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000128713 chr2 176104216 176109754 + HOXD11 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]. 3237 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048856, GO:0009953, GO:0006357, GO:0006357, GO:0001658, anatomical structure development, dorsal/ventral pattern formation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, branching involved in ureteric bud morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000128714 chr2 176092891 176095938 + HOXD13 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]. 3239 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:1990837, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060687, GO:0060602, GO:0060571, GO:0060527, GO:0048619, GO:0045944, GO:0042733, GO:0042127, GO:0033574, GO:0030539, GO:0009952, GO:0007275, GO:0006357, GO:0006355, GO:0001501, regulation of branching involved in prostate gland morphogenesis, branch elongation of an epithelium, morphogenesis of an epithelial fold, prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis, embryonic hindgut morphogenesis, positive regulation of transcription by RNA polymerase II, embryonic digit morphogenesis, regulation of cell population proliferation, response to testosterone, male genitalia development, anterior/posterior pattern specification, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000128731 chr15 28111040 28322152 - HERC2 protein_coding This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]. 8924 GO:0016020, GO:0005886, GO:0005829, GO:0005814, GO:0005737, GO:0005654, GO:0005634, membrane, plasma membrane, cytosol, centriole, cytoplasm, nucleoplasm, nucleus, GO:0061630, GO:0032183, GO:0031625, GO:0008270, GO:0005515, GO:0005085, ubiquitin protein ligase activity, SUMO binding, ubiquitin protein ligase binding, zinc ion binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0043161, GO:0016567, GO:0016567, GO:0007283, GO:0006974, GO:0006886, GO:0006303, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, spermatogenesis, cellular response to DNA damage stimulus, intracellular protein transport, double-strand break repair via nonhomologous end joining, 65 53 122 95 37 48 69 49 46 ENSG00000128739 chr15 24823637 24978723 + SNRPN protein_coding This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]. 6638 GO:0071013, GO:0071004, GO:0046540, GO:0030532, GO:0005737, GO:0005687, GO:0005686, GO:0005685, GO:0005682, GO:0005681, GO:0005654, GO:0005654, catalytic step 2 spliceosome, U2-type prespliceosome, U4/U6 x U5 tri-snRNP complex, small nuclear ribonucleoprotein complex, cytoplasm, U4 snRNP, U2 snRNP, U1 snRNP, U5 snRNP, spliceosomal complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0009725, GO:0008380, GO:0000398, GO:0000398, response to hormone, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 5 3 3 12 2 9 6 0 5 ENSG00000128789 chr18 12658043 12725740 + PSMG2 protein_coding 56984 GO:0101031, GO:0005829, GO:0005634, GO:0005634, GO:0005634, chaperone complex, cytosol, nucleus, nucleus, nucleus, GO:0060090, GO:0005515, molecular adaptor activity, protein binding, GO:0051131, GO:0051131, GO:0043248, GO:0043066, GO:0007094, chaperone-mediated protein complex assembly, chaperone-mediated protein complex assembly, proteasome assembly, negative regulation of apoptotic process, mitotic spindle assembly checkpoint, 62 41 80 74 61 105 70 58 81 ENSG00000128791 chr18 9334767 9402420 + TWSG1 protein_coding 57045 GO:0005615, extracellular space, GO:0050431, GO:0005515, transforming growth factor beta binding, protein binding, GO:2000562, GO:2000515, GO:0045668, GO:0043010, GO:0030900, GO:0030514, GO:0030513, GO:0030510, GO:0030509, GO:0030154, GO:0030097, GO:0010862, GO:0007435, GO:0007179, GO:0001818, GO:0001707, GO:0001503, negative regulation of CD4-positive, alpha-beta T cell proliferation, negative regulation of CD4-positive, alpha-beta T cell activation, negative regulation of osteoblast differentiation, camera-type eye development, forebrain development, negative regulation of BMP signaling pathway, positive regulation of BMP signaling pathway, regulation of BMP signaling pathway, BMP signaling pathway, cell differentiation, hemopoiesis, positive regulation of pathway-restricted SMAD protein phosphorylation, salivary gland morphogenesis, transforming growth factor beta receptor signaling pathway, negative regulation of cytokine production, mesoderm formation, ossification, 43 24 42 28 4 23 21 21 28 ENSG00000128805 chr10 48446034 48656265 - ARHGAP22 protein_coding This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 58504 GO:0098978, GO:0098978, GO:0005925, GO:0005829, GO:0005634, glutamatergic synapse, glutamatergic synapse, focal adhesion, cytosol, nucleus, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0099175, GO:0099175, GO:0090630, GO:0051056, GO:0030154, GO:0007165, GO:0001525, regulation of postsynapse organization, regulation of postsynapse organization, activation of GTPase activity, regulation of small GTPase mediated signal transduction, cell differentiation, signal transduction, angiogenesis, 1 0 1 3 2 0 7 2 0 ENSG00000128815 chr10 48684876 48982956 + WDFY4 protein_coding 57705 GO:0005783, GO:0005769, endoplasmic reticulum, early endosome, GO:0006914, autophagy, 1591 2866 2550 791 1963 1122 992 1580 1018 ENSG00000128829 chr15 39934146 40035591 + EIF2AK4 protein_coding This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]. 440275 GO:0022626, GO:0022626, GO:0005844, cytosolic ribosome, cytosolic ribosome, polysome, GO:0106311, GO:0106310, GO:0005524, GO:0004694, GO:0004694, GO:0004694, GO:0004674, GO:0004672, GO:0000049, protein threonine kinase activity, protein serine kinase activity, ATP binding, eukaryotic translation initiation factor 2alpha kinase activity, eukaryotic translation initiation factor 2alpha kinase activity, eukaryotic translation initiation factor 2alpha kinase activity, protein serine/threonine kinase activity, protein kinase activity, tRNA binding, GO:1990253, GO:1990138, GO:1900273, GO:0071264, GO:0070417, GO:0060259, GO:0051607, GO:0046777, GO:0045947, GO:0045665, GO:0044828, GO:0039520, GO:0036492, GO:0034644, GO:0034198, GO:0034198, GO:0032792, GO:0032057, GO:0019081, GO:0010998, GO:0010998, GO:0007616, GO:0007612, GO:0007050, GO:0006468, GO:0006446, GO:0002821, GO:0002286, GO:0002250, GO:0002230, GO:0000077, cellular response to leucine starvation, neuron projection extension, positive regulation of long-term synaptic potentiation, positive regulation of translational initiation in response to starvation, cellular response to cold, regulation of feeding behavior, defense response to virus, protein autophosphorylation, negative regulation of translational initiation, negative regulation of neuron differentiation, negative regulation by host of viral genome replication, induction by virus of host autophagy, eiF2alpha phosphorylation in response to endoplasmic reticulum stress, cellular response to UV, cellular response to amino acid starvation, cellular response to amino acid starvation, negative regulation of CREB transcription factor activity, negative regulation of translational initiation in response to stress, viral translation, regulation of translational initiation by eIF2 alpha phosphorylation, regulation of translational initiation by eIF2 alpha phosphorylation, long-term memory, learning, cell cycle arrest, protein phosphorylation, regulation of translational initiation, positive regulation of adaptive immune response, T cell activation involved in immune response, adaptive immune response, positive regulation of defense response to virus by host, DNA damage checkpoint, 52 64 61 48 41 65 45 46 53 ENSG00000128833 chr15 52192322 52295798 - MYO5C protein_coding 55930 GO:0070062, GO:0031982, GO:0016459, GO:0015629, GO:0005737, extracellular exosome, vesicle, myosin complex, actin cytoskeleton, cytoplasm, GO:0051015, GO:0030898, GO:0005524, GO:0005516, GO:0000146, actin filament binding, actin-dependent ATPase activity, ATP binding, calmodulin binding, microfilament motor activity, GO:0030050, GO:0007015, vesicle transport along actin filament, actin filament organization, 11 9 19 4 22 9 2 7 17 ENSG00000128849 chr15 57375967 57550727 + CGNL1 protein_coding This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]. 84952 GO:0032991, GO:0016459, GO:0005923, protein-containing complex, myosin complex, bicellular tight junction, GO:0005515, GO:0003774, protein binding, motor activity, GO:0150105, GO:0051497, GO:0051058, GO:0007015, protein localization to cell-cell junction, negative regulation of stress fiber assembly, negative regulation of small GTPase mediated signal transduction, actin filament organization, 0 0 0 0 0 0 0 0 0 ENSG00000128872 chr15 51751561 51816368 + TMOD2 protein_coding This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]. 29767 GO:0045202, GO:0030426, GO:0030016, GO:0005865, GO:0005856, synapse, growth cone, myofibril, striated muscle thin filament, cytoskeleton, GO:0005523, GO:0005515, GO:0003779, tropomyosin binding, protein binding, actin binding, GO:0051694, GO:0045745, GO:0030239, GO:0007611, GO:0007399, GO:0007270, GO:0007015, GO:0006936, pointed-end actin filament capping, positive regulation of G protein-coupled receptor signaling pathway, myofibril assembly, learning or memory, nervous system development, neuron-neuron synaptic transmission, actin filament organization, muscle contraction, 441 421 306 305 463 227 409 336 231 ENSG00000128881 chr15 42738734 42920809 - TTBK2 protein_coding This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]. 146057 GO:0036064, GO:0036064, GO:0035869, GO:0035869, GO:0035869, GO:0005829, GO:0005829, GO:0005814, GO:0005737, GO:0005634, GO:0005634, GO:0005615, ciliary basal body, ciliary basal body, ciliary transition zone, ciliary transition zone, ciliary transition zone, cytosol, cytosol, centriole, cytoplasm, nucleus, nucleus, extracellular space, GO:0106311, GO:0106310, GO:0051010, GO:0050321, GO:0050321, GO:0048156, GO:0019894, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, microtubule plus-end binding, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, kinesin binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1904527, GO:1902817, GO:0097711, GO:0060271, GO:0060271, GO:0060271, GO:0030334, GO:0021935, GO:0021681, GO:0021549, GO:0018105, GO:0018105, GO:0007224, GO:0007026, GO:0000226, negative regulation of microtubule binding, negative regulation of protein localization to microtubule, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, cilium assembly, regulation of cell migration, cerebellar granule cell precursor tangential migration, cerebellar granular layer development, cerebellum development, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, smoothened signaling pathway, negative regulation of microtubule depolymerization, microtubule cytoskeleton organization, 217 267 263 188 251 247 189 166 172 ENSG00000128886 chr15 43772600 43777543 - ELL3 protein_coding 80237 GO:0008023, GO:0008023, GO:0005730, GO:0005654, GO:0005654, GO:0005634, transcription elongation factor complex, transcription elongation factor complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0000987, protein binding, cis-regulatory region sequence-specific DNA binding, GO:2000179, GO:1902166, GO:0050769, GO:0048863, GO:0045944, GO:0042795, GO:0042795, GO:0032786, GO:0010717, GO:0007283, GO:0006368, GO:0006366, GO:0006354, positive regulation of neural precursor cell proliferation, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of neurogenesis, stem cell differentiation, positive regulation of transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, positive regulation of DNA-templated transcription, elongation, regulation of epithelial to mesenchymal transition, spermatogenesis, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, DNA-templated transcription, elongation, 1 0 0 1 0 1 0 3 3 ENSG00000128891 chr15 40528683 40565057 - CCDC32 protein_coding 90416 GO:0005515, protein binding, 234 246 278 145 150 177 143 121 200 ENSG00000128908 chr15 40978880 41116354 - INO80 protein_coding This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 54617 GO:0031011, GO:0031011, GO:0016604, GO:0005886, GO:0005874, GO:0005819, GO:0005737, GO:0005654, GO:0005654, GO:0005634, Ino80 complex, Ino80 complex, nuclear body, plasma membrane, microtubule, spindle, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0043138, GO:0043014, GO:0042393, GO:0016887, GO:0008094, GO:0005524, GO:0005515, GO:0003779, GO:0003677, 3'-5' DNA helicase activity, alpha-tubulin binding, histone binding, ATPase activity, DNA-dependent ATPase activity, ATP binding, protein binding, actin binding, DNA binding, GO:2000045, GO:0071479, GO:0070914, GO:0051301, GO:0051225, GO:0045944, GO:0043618, GO:0043044, GO:0042766, GO:0034644, GO:0032508, GO:0030307, GO:0016579, GO:0010571, GO:0006351, GO:0006338, GO:0006302, GO:0006281, GO:0000724, GO:0000070, regulation of G1/S transition of mitotic cell cycle, cellular response to ionizing radiation, UV-damage excision repair, cell division, spindle assembly, positive regulation of transcription by RNA polymerase II, regulation of transcription from RNA polymerase II promoter in response to stress, ATP-dependent chromatin remodeling, nucleosome mobilization, cellular response to UV, DNA duplex unwinding, positive regulation of cell growth, protein deubiquitination, positive regulation of nuclear cell cycle DNA replication, transcription, DNA-templated, chromatin remodeling, double-strand break repair, DNA repair, double-strand break repair via homologous recombination, mitotic sister chromatid segregation, 153 208 237 144 129 169 174 113 133 ENSG00000128915 chr15 60419609 60479160 - ICE2 protein_coding This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017]. 79664 GO:0035363, GO:0035327, GO:0016604, GO:0015030, GO:0008023, GO:0008023, GO:0005829, GO:0005654, GO:0005654, histone locus body, transcriptionally active chromatin, nuclear body, Cajal body, transcription elongation factor complex, transcription elongation factor complex, cytosol, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0045945, GO:0045945, GO:0042796, GO:0042796, GO:0042795, GO:0042795, GO:0042795, positive regulation of transcription by RNA polymerase III, positive regulation of transcription by RNA polymerase III, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, 42 55 57 127 68 145 118 49 110 ENSG00000128917 chr15 40929333 40939073 + DLL4 protein_coding This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]. 54567 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005509, GO:0005112, protein binding, calcium ion binding, Notch binding, GO:2000179, GO:1903588, GO:0090051, GO:0090051, GO:0072554, GO:0061314, GO:0061074, GO:0060579, GO:0050767, GO:0045747, GO:0045746, GO:0045746, GO:0044344, GO:0035924, GO:0035912, GO:0030217, GO:0010629, GO:0010628, GO:0010596, GO:0008285, GO:0008015, GO:0007601, GO:0007219, GO:0007219, GO:0007165, GO:0003344, GO:0003222, GO:0003209, GO:0003208, GO:0003180, GO:0001974, GO:0001569, GO:0001525, GO:0000122, positive regulation of neural precursor cell proliferation, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, blood vessel lumenization, Notch signaling involved in heart development, regulation of neural retina development, ventral spinal cord interneuron fate commitment, regulation of neurogenesis, positive regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, cellular response to fibroblast growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, dorsal aorta morphogenesis, T cell differentiation, negative regulation of gene expression, positive regulation of gene expression, negative regulation of endothelial cell migration, negative regulation of cell population proliferation, blood circulation, visual perception, Notch signaling pathway, Notch signaling pathway, signal transduction, pericardium morphogenesis, ventricular trabecula myocardium morphogenesis, cardiac atrium morphogenesis, cardiac ventricle morphogenesis, aortic valve morphogenesis, blood vessel remodeling, branching involved in blood vessel morphogenesis, angiogenesis, negative regulation of transcription by RNA polymerase II, 2 4 0 26 4 11 3 2 1 ENSG00000128918 chr15 57953424 58497866 - ALDH1A2 protein_coding This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]. 8854 GO:0048471, GO:0005829, GO:0005737, perinuclear region of cytoplasm, cytosol, cytoplasm, GO:0016918, GO:0004029, GO:0004028, GO:0001758, GO:0001758, retinal binding, aldehyde dehydrogenase (NAD+) activity, 3-chloroallyl aldehyde dehydrogenase activity, retinal dehydrogenase activity, retinal dehydrogenase activity, GO:0090242, GO:0071300, GO:0060324, GO:0055114, GO:0051289, GO:0048738, GO:0048566, GO:0043065, GO:0042904, GO:0042574, GO:0042573, GO:0042572, GO:0035799, GO:0035115, GO:0034097, GO:0033189, GO:0032355, GO:0031076, GO:0031016, GO:0030902, GO:0030324, GO:0030182, GO:0021983, GO:0021915, GO:0016331, GO:0014032, GO:0010628, GO:0009954, GO:0009855, GO:0008285, GO:0008284, GO:0007494, GO:0006776, GO:0003007, GO:0002138, GO:0001936, GO:0001889, GO:0001822, GO:0001568, retinoic acid receptor signaling pathway involved in somitogenesis, cellular response to retinoic acid, face development, oxidation-reduction process, protein homotetramerization, cardiac muscle tissue development, embryonic digestive tract development, positive regulation of apoptotic process, 9-cis-retinoic acid biosynthetic process, retinal metabolic process, retinoic acid metabolic process, retinol metabolic process, ureter maturation, embryonic forelimb morphogenesis, response to cytokine, response to vitamin A, response to estradiol, embryonic camera-type eye development, pancreas development, hindbrain development, lung development, neuron differentiation, pituitary gland development, neural tube development, morphogenesis of embryonic epithelium, neural crest cell development, positive regulation of gene expression, proximal/distal pattern formation, determination of bilateral symmetry, negative regulation of cell population proliferation, positive regulation of cell population proliferation, midgut development, vitamin A metabolic process, heart morphogenesis, retinoic acid biosynthetic process, regulation of endothelial cell proliferation, liver development, kidney development, blood vessel development, 4461 4882 8196 502 1586 1580 1275 1766 1881 ENSG00000128923 chr15 58771192 58861900 + MINDY2 protein_coding 54629 GO:0071944, GO:0005829, GO:0005654, cell periphery, cytosol, nucleoplasm, GO:1990380, GO:1990380, GO:0071796, GO:0071795, GO:0070530, GO:0036435, GO:0016807, GO:0016807, GO:0004843, Lys48-specific deubiquitinase activity, Lys48-specific deubiquitinase activity, K6-linked polyubiquitin modification-dependent protein binding, K11-linked polyubiquitin modification-dependent protein binding, K63-linked polyubiquitin modification-dependent protein binding, K48-linked polyubiquitin modification-dependent protein binding, cysteine-type carboxypeptidase activity, cysteine-type carboxypeptidase activity, thiol-dependent ubiquitin-specific protease activity, GO:0071108, GO:0008150, protein K48-linked deubiquitination, biological_process, 389 443 473 294 382 372 345 300 292 ENSG00000128928 chr15 40405795 40435947 + IVD protein_coding Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]. 3712 GO:0031966, GO:0005759, GO:0005759, mitochondrial membrane, mitochondrial matrix, mitochondrial matrix, GO:0050660, GO:0042802, GO:0008470, GO:0008470, GO:0008470, GO:0005515, GO:0004085, flavin adenine dinucleotide binding, identical protein binding, isovaleryl-CoA dehydrogenase activity, isovaleryl-CoA dehydrogenase activity, isovaleryl-CoA dehydrogenase activity, protein binding, butyryl-CoA dehydrogenase activity, GO:0033539, GO:0009083, GO:0009083, GO:0006552, GO:0006552, GO:0006552, fatty acid beta-oxidation using acyl-CoA dehydrogenase, branched-chain amino acid catabolic process, branched-chain amino acid catabolic process, leucine catabolic process, leucine catabolic process, leucine catabolic process, 26 43 58 65 66 78 70 47 63 ENSG00000128944 chr15 40382721 40394246 + KNSTRN protein_coding 90417 GO:0072686, GO:0072686, GO:0035371, GO:0035371, GO:0034451, GO:0034451, GO:0005886, GO:0005737, GO:0005634, GO:0001726, GO:0000922, GO:0000777, GO:0000776, GO:0000776, mitotic spindle, mitotic spindle, microtubule plus-end, microtubule plus-end, centriolar satellite, centriolar satellite, plasma membrane, cytoplasm, nucleus, ruffle, spindle pole, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0051010, GO:0042803, GO:0005515, microtubule plus-end binding, protein homodimerization activity, protein binding, GO:0071364, GO:0051988, GO:0051988, GO:0051301, GO:0016477, GO:0007059, GO:0007051, GO:0007051, GO:0000226, GO:0000070, GO:0000070, cellular response to epidermal growth factor stimulus, regulation of attachment of spindle microtubules to kinetochore, regulation of attachment of spindle microtubules to kinetochore, cell division, cell migration, chromosome segregation, spindle organization, spindle organization, microtubule cytoskeleton organization, mitotic sister chromatid segregation, mitotic sister chromatid segregation, 13 6 15 14 30 24 13 22 18 ENSG00000128951 chr15 48331011 48343373 + DUT protein_coding This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008]. 1854 GO:0070062, GO:0005739, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0004170, GO:0003723, GO:0000287, protein binding, dUTP diphosphatase activity, RNA binding, magnesium ion binding, GO:0046081, GO:0015949, GO:0006260, GO:0006226, GO:0006226, GO:0006139, dUTP catabolic process, nucleobase-containing small molecule interconversion, DNA replication, dUMP biosynthetic process, dUMP biosynthetic process, nucleobase-containing compound metabolic process, 71 42 88 193 89 139 106 75 128 ENSG00000128965 chr15 40952962 40956519 + CHAC1 protein_coding This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016]. 79094 GO:0005829, GO:0005829, GO:0005802, GO:0005737, cytosol, cytosol, trans-Golgi network, cytoplasm, GO:0061928, GO:0005515, GO:0005112, GO:0003839, glutathione specific gamma-glutamylcyclotransferase activity, protein binding, Notch binding, gamma-glutamylcyclotransferase activity, GO:0070059, GO:0045746, GO:0022008, GO:0010955, GO:0007219, GO:0006986, GO:0006751, GO:0006750, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, negative regulation of Notch signaling pathway, neurogenesis, negative regulation of protein processing, Notch signaling pathway, response to unfolded protein, glutathione catabolic process, glutathione biosynthetic process, 0 0 0 2 2 8 5 1 0 ENSG00000128973 chr15 68206992 68257211 - CLN6 protein_coding This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]. 54982 GO:0045121, GO:0043231, GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005788, GO:0005783, GO:0005783, GO:0005769, GO:0005730, membrane raft, intracellular membrane-bounded organelle, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, early endosome, nucleolus, GO:0120146, GO:0042803, GO:0035727, GO:0005515, sulfatide binding, protein homodimerization activity, lysophosphatidic acid binding, protein binding, GO:0045862, GO:0044265, GO:0031987, GO:0030203, GO:0030163, GO:0008203, GO:0007601, GO:0007042, GO:0007040, GO:0001573, positive regulation of proteolysis, cellular macromolecule catabolic process, locomotion involved in locomotory behavior, glycosaminoglycan metabolic process, protein catabolic process, cholesterol metabolic process, visual perception, lysosomal lumen acidification, lysosome organization, ganglioside metabolic process, 39 140 61 22 117 34 33 92 32 ENSG00000128989 chr15 52547045 52569883 - ARPP19 protein_coding The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011]. 10776 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0051721, GO:0019888, GO:0019212, GO:0015459, GO:0005515, GO:0005102, GO:0004864, protein phosphatase 2A binding, protein phosphatase regulator activity, phosphatase inhibitor activity, potassium channel regulator activity, protein binding, signaling receptor binding, protein phosphatase inhibitor activity, GO:0051301, GO:0046326, GO:0045722, GO:0035308, GO:0032515, GO:0000278, GO:0000086, cell division, positive regulation of glucose import, positive regulation of gluconeogenesis, negative regulation of protein dephosphorylation, negative regulation of phosphoprotein phosphatase activity, mitotic cell cycle, G2/M transition of mitotic cell cycle, 1547 1471 1877 598 1035 1058 847 797 833 ENSG00000129003 chr15 61852389 62060473 - VPS13C protein_coding This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]. 54832 GO:0070062, GO:0032127, GO:0019898, GO:0005829, GO:0005741, GO:0005737, extracellular exosome, dense core granule membrane, extrinsic component of membrane, cytosol, mitochondrial outer membrane, cytoplasm, GO:1905090, GO:0045053, GO:0032868, GO:0007005, GO:0007005, GO:0006895, GO:0006623, negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization, protein retention in Golgi apparatus, response to insulin, mitochondrion organization, mitochondrion organization, Golgi to endosome transport, protein targeting to vacuole, 631 481 1274 926 354 1289 842 281 967 ENSG00000129007 chr15 68190705 68206110 - CALML4 protein_coding 91860 GO:0030234, GO:0005509, enzyme regulator activity, calcium ion binding, GO:0050790, GO:0019722, GO:0000226, regulation of catalytic activity, calcium-mediated signaling, microtubule cytoskeleton organization, 105 132 85 73 116 86 79 81 67 ENSG00000129009 chr15 74173671 74176872 + ISLR protein_coding 3671 GO:0070062, GO:0031093, GO:0005576, extracellular exosome, platelet alpha granule lumen, extracellular region, GO:0007155, GO:0002576, cell adhesion, platelet degranulation, 0 0 0 0 0 0 0 0 0 ENSG00000129028 chr15 70881342 70892785 - THAP10 protein_coding This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010]. 56906 GO:0046872, GO:0043565, GO:0005515, metal ion binding, sequence-specific DNA binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000129038 chr15 73925989 73952137 + LOXL1 protein_coding This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]. 4016 GO:0062023, GO:0062023, GO:0005615, GO:0005604, GO:0005576, GO:0001669, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular space, basement membrane, extracellular region, acrosomal vesicle, GO:0005507, GO:0004720, copper ion binding, protein-lysine 6-oxidase activity, GO:0055114, GO:0035904, GO:0032496, GO:0030199, GO:0030198, GO:0018277, GO:0018057, oxidation-reduction process, aorta development, response to lipopolysaccharide, collagen fibril organization, extracellular matrix organization, protein deamination, peptidyl-lysine oxidation, 47 85 94 33 50 64 19 31 49 ENSG00000129048 chr3 132597237 132618967 + ACKR4 protein_coding The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]. 51554 GO:0055037, GO:0009897, GO:0005887, GO:0005886, GO:0005769, recycling endosome, external side of plasma membrane, integral component of plasma membrane, plasma membrane, early endosome, GO:0019957, GO:0016493, GO:0005515, GO:0005044, GO:0004950, C-C chemokine binding, C-C chemokine receptor activity, protein binding, scavenger receptor activity, chemokine receptor activity, GO:0070098, GO:0060326, GO:0019722, GO:0007204, GO:0007186, GO:0006955, GO:0006897, chemokine-mediated signaling pathway, cell chemotaxis, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, endocytosis, 4 7 19 19 8 16 12 8 7 ENSG00000129055 chr3 134477706 134486716 - ANAPC13 protein_coding This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]. 25847 GO:0005680, GO:0005680, anaphase-promoting complex, anaphase-promoting complex, GO:0005515, protein binding, GO:0070979, GO:0070979, GO:0051301, GO:0007049, protein K11-linked ubiquitination, protein K11-linked ubiquitination, cell division, cell cycle, 439 496 528 131 395 307 270 399 233 ENSG00000129071 chr3 129430944 129440179 - MBD4 protein_coding The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]. 8930 GO:0016607, GO:0005654, GO:0005634, nuclear speck, nucleoplasm, nucleus, GO:0019104, GO:0008263, GO:0005515, GO:0004520, GO:0003696, GO:0003677, DNA N-glycosylase activity, pyrimidine-specific mismatch base pair DNA N-glycosylase activity, protein binding, endodeoxyribonuclease activity, satellite DNA binding, DNA binding, GO:0045008, GO:0032355, GO:0006281, depyrimidination, response to estradiol, DNA repair, 822 730 956 261 493 444 398 408 366 ENSG00000129083 chr11 14443440 14500027 - COPB1 protein_coding This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. 1315 GO:0101003, GO:0070821, GO:0043231, GO:0030667, GO:0030133, GO:0030126, GO:0030126, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005798, GO:0005794, GO:0005793, GO:0005789, GO:0000139, ficolin-1-rich granule membrane, tertiary granule membrane, intracellular membrane-bounded organelle, secretory granule membrane, transport vesicle, COPI vesicle coat, COPI vesicle coat, membrane, plasma membrane, cytosol, cytosol, Golgi-associated vesicle, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0043312, GO:0016032, GO:0006891, GO:0006891, GO:0006890, GO:0006888, GO:0006888, GO:0006886, neutrophil degranulation, viral process, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 937 782 1173 757 783 698 780 548 676 ENSG00000129084 chr11 14504874 14643635 - PSMA1 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]. 5682 GO:0070062, GO:0019773, GO:0019773, GO:0005844, GO:0005839, GO:0005839, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000502, extracellular exosome, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, polysome, proteasome core complex, proteasome core complex, cytosol, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0005515, GO:0004175, GO:0003723, GO:0001530, protein binding, endopeptidase activity, RNA binding, lipopolysaccharide binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010499, GO:0006521, GO:0002862, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, negative regulation of inflammatory response to antigenic stimulus, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 121 76 114 135 115 166 105 85 86 ENSG00000129103 chr7 56064002 56080670 + SUMF2 protein_coding The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 25870 GO:0005788, GO:0005783, GO:0005783, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0043687, GO:0006687, post-translational protein modification, glycosphingolipid metabolic process, 65 63 133 174 94 254 159 99 177 ENSG00000129116 chr4 168497066 168928457 + PALLD protein_coding This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 23022 GO:0060076, GO:0030426, GO:0030424, GO:0030027, GO:0030018, GO:0015629, GO:0005925, GO:0005925, GO:0005886, GO:0005886, GO:0005884, GO:0005829, GO:0005634, GO:0002102, GO:0001726, GO:0001725, excitatory synapse, growth cone, axon, lamellipodium, Z disc, actin cytoskeleton, focal adhesion, focal adhesion, plasma membrane, plasma membrane, actin filament, cytosol, nucleus, podosome, ruffle, stress fiber, GO:0098632, GO:0051371, GO:0005515, GO:0003779, cell-cell adhesion mediator activity, muscle alpha-actinin binding, protein binding, actin binding, GO:0070593, GO:0030036, GO:0016477, GO:0007411, GO:0007156, GO:0007010, GO:0003382, GO:0003334, dendrite self-avoidance, actin cytoskeleton organization, cell migration, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, cytoskeleton organization, epithelial cell morphogenesis, keratinocyte development, 4 10 7 13 24 11 21 8 18 ENSG00000129128 chr4 176319964 176332245 + SPCS3 protein_coding 60559 GO:0016021, GO:0005789, GO:0005787, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, signal peptidase complex, endoplasmic reticulum, GO:0008233, GO:0005515, peptidase activity, protein binding, GO:0045047, GO:0019082, GO:0006508, GO:0006465, protein targeting to ER, viral protein processing, proteolysis, signal peptide processing, 1406 1320 1712 735 856 1010 753 753 942 ENSG00000129151 chr11 27040725 27127809 + BBOX1 protein_coding This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]. 8424 GO:0070062, GO:0005829, GO:0005739, extracellular exosome, cytosol, mitochondrion, GO:0042802, GO:0008336, GO:0008336, GO:0008336, GO:0008270, GO:0005515, GO:0005506, identical protein binding, gamma-butyrobetaine dioxygenase activity, gamma-butyrobetaine dioxygenase activity, gamma-butyrobetaine dioxygenase activity, zinc ion binding, protein binding, iron ion binding, GO:0055114, GO:0045329, GO:0045329, GO:0045329, GO:0045329, oxidation-reduction process, carnitine biosynthetic process, carnitine biosynthetic process, carnitine biosynthetic process, carnitine biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000129152 chr11 17719568 17722131 + MYOD1 protein_coding This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]. 4654 GO:0030016, GO:0005667, GO:0005654, GO:0005654, GO:0000791, GO:0000785, GO:0000785, GO:0000785, myofibril, transcription regulator complex, nucleoplasm, nucleoplasm, euchromatin, chromatin, chromatin, chromatin, GO:1990841, GO:1990837, GO:0070888, GO:0042803, GO:0035257, GO:0031625, GO:0031490, GO:0005515, GO:0003682, GO:0001228, GO:0001102, GO:0000981, GO:0000981, GO:0000978, GO:0000977, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, E-box binding, protein homodimerization activity, nuclear hormone receptor binding, ubiquitin protein ligase binding, chromatin DNA binding, protein binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000818, GO:1905382, GO:1901741, GO:0071453, GO:0071392, GO:0071385, GO:0071356, GO:0051149, GO:0051149, GO:0048743, GO:0048741, GO:0045944, GO:0045944, GO:0045663, GO:0043967, GO:0043966, GO:0043503, GO:0043484, GO:0043415, GO:0042693, GO:0035914, GO:0014908, GO:0014904, GO:0009267, GO:0007520, GO:0007519, GO:0007518, GO:0007517, GO:0006468, GO:0006357, GO:0006357, GO:0000381, negative regulation of myoblast proliferation, positive regulation of snRNA transcription by RNA polymerase II, positive regulation of myoblast fusion, cellular response to oxygen levels, cellular response to estradiol stimulus, cellular response to glucocorticoid stimulus, cellular response to tumor necrosis factor, positive regulation of muscle cell differentiation, positive regulation of muscle cell differentiation, positive regulation of skeletal muscle fiber development, skeletal muscle fiber development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of myoblast differentiation, histone H4 acetylation, histone H3 acetylation, skeletal muscle fiber adaptation, regulation of RNA splicing, positive regulation of skeletal muscle tissue regeneration, muscle cell fate commitment, skeletal muscle cell differentiation, myotube differentiation involved in skeletal muscle regeneration, myotube cell development, cellular response to starvation, myoblast fusion, skeletal muscle tissue development, myoblast fate determination, muscle organ development, protein phosphorylation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000129158 chr11 17788048 18013162 - SERGEF protein_coding 26297 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0050709, GO:0007165, negative regulation of protein secretion, signal transduction, 5 4 9 15 3 28 14 13 5 ENSG00000129159 chr11 17734774 17856804 + KCNC1 protein_coding This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both 'b' and 'alpha', while the shorter isoform has been called both 'a' and 'beta' (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]. 3746 GO:0099056, GO:0032809, GO:0032809, GO:0032590, GO:0030673, GO:0030424, GO:0016021, GO:0009986, GO:0008076, GO:0008076, GO:0008076, GO:0005886, integral component of presynaptic membrane, neuronal cell body membrane, neuronal cell body membrane, dendrite membrane, axolemma, axon, integral component of membrane, cell surface, voltage-gated potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, GO:0099508, GO:0044325, GO:0019894, GO:0005515, GO:0005251, GO:0005251, GO:0005249, voltage-gated ion channel activity involved in regulation of presynaptic membrane potential, ion channel binding, kinesin binding, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:1990089, GO:1903818, GO:0099505, GO:0071805, GO:0071805, GO:0071774, GO:0051262, GO:0051260, GO:0035864, GO:0035690, GO:0021759, GO:0021549, GO:0014075, GO:0010996, GO:0009642, GO:0009636, GO:0006813, response to nerve growth factor, positive regulation of voltage-gated potassium channel activity, regulation of presynaptic membrane potential, potassium ion transmembrane transport, potassium ion transmembrane transport, response to fibroblast growth factor, protein tetramerization, protein homooligomerization, response to potassium ion, cellular response to drug, globus pallidus development, cerebellum development, response to amine, response to auditory stimulus, response to light intensity, response to toxic substance, potassium ion transport, 0 1 2 1 1 2 0 1 10 ENSG00000129167 chr11 18017564 18042426 - TPH1 protein_coding This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009]. 7166 GO:0043005, GO:0005829, neuron projection, cytosol, GO:0005515, GO:0005506, GO:0004510, protein binding, iron ion binding, tryptophan 5-monooxygenase activity, GO:0060749, GO:0055114, GO:0046849, GO:0046219, GO:0045600, GO:0042427, GO:0035902, GO:0030279, GO:0009072, GO:0007623, mammary gland alveolus development, oxidation-reduction process, bone remodeling, indolalkylamine biosynthetic process, positive regulation of fat cell differentiation, serotonin biosynthetic process, response to immobilization stress, negative regulation of ossification, aromatic amino acid family metabolic process, circadian rhythm, 0 2 4 0 2 0 2 2 2 ENSG00000129170 chr11 19182037 19210571 - CSRP3 protein_coding This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]. 8048 GO:0030018, GO:0030018, GO:0005856, GO:0005737, GO:0005634, Z disc, Z disc, cytoskeleton, cytoplasm, nucleus, GO:0046872, GO:0042805, GO:0042805, GO:0042802, GO:0031433, GO:0031433, GO:0008307, GO:0008307, GO:0005515, GO:0003779, metal ion binding, actinin binding, actinin binding, identical protein binding, telethonin binding, telethonin binding, structural constituent of muscle, structural constituent of muscle, protein binding, actin binding, GO:1903076, GO:0070528, GO:0060537, GO:0060048, GO:0060048, GO:0055003, GO:0048738, GO:0045944, GO:0045214, GO:0042593, GO:0035995, GO:0033365, GO:0033292, GO:0030036, GO:0008286, GO:0007519, GO:0006954, GO:0006874, GO:0003300, GO:0002026, regulation of protein localization to plasma membrane, protein kinase C signaling, muscle tissue development, cardiac muscle contraction, cardiac muscle contraction, cardiac myofibril assembly, cardiac muscle tissue development, positive regulation of transcription by RNA polymerase II, sarcomere organization, glucose homeostasis, detection of muscle stretch, protein localization to organelle, T-tubule organization, actin cytoskeleton organization, insulin receptor signaling pathway, skeletal muscle tissue development, inflammatory response, cellular calcium ion homeostasis, cardiac muscle hypertrophy, regulation of the force of heart contraction, 0 0 0 0 0 0 0 0 0 ENSG00000129173 chr11 19224063 19241620 - E2F8 protein_coding This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]. 79733 GO:0090575, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, cytosol, nucleolus, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0042802, GO:0005515, GO:0003700, GO:0001227, GO:0001217, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070365, GO:0060718, GO:0060707, GO:0045944, GO:0033301, GO:0032877, GO:0032466, GO:0008283, GO:0006977, GO:0006357, GO:0002040, GO:0001890, GO:0000122, GO:0000122, hepatocyte differentiation, chorionic trophoblast cell differentiation, trophoblast giant cell differentiation, positive regulation of transcription by RNA polymerase II, cell cycle comprising mitosis without cytokinesis, positive regulation of DNA endoreduplication, negative regulation of cytokinesis, cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription by RNA polymerase II, sprouting angiogenesis, placenta development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 0 0 0 1 0 2 0 2 ENSG00000129187 chr4 182890060 182917936 - DCTD protein_coding The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1635 GO:0005829, cytosol, GO:0042802, GO:0008270, GO:0005515, GO:0004132, identical protein binding, zinc ion binding, protein binding, dCMP deaminase activity, GO:0015949, GO:0006231, GO:0006226, GO:0006220, nucleobase-containing small molecule interconversion, dTMP biosynthetic process, dUMP biosynthetic process, pyrimidine nucleotide metabolic process, 41 13 54 119 40 106 100 42 45 ENSG00000129194 chr17 7588178 7590170 - SOX15 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]. 6665 GO:0005737, GO:0005667, GO:0005634, GO:0000785, GO:0000785, cytoplasm, transcription regulator complex, nucleus, chromatin, chromatin, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000288, GO:0070318, GO:0060707, GO:0048627, GO:0045944, GO:0045944, GO:0045843, GO:0043403, GO:0030154, GO:0030154, GO:0014718, GO:0009653, GO:0008584, GO:0006357, GO:0006355, GO:0006355, GO:0006325, GO:0000122, GO:0000122, positive regulation of myoblast proliferation, positive regulation of G0 to G1 transition, trophoblast giant cell differentiation, myoblast development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of striated muscle tissue development, skeletal muscle tissue regeneration, cell differentiation, cell differentiation, positive regulation of satellite cell activation involved in skeletal muscle regeneration, anatomical structure morphogenesis, male gonad development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, chromatin organization, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 3 9 18 12 7 8 12 25 ENSG00000129195 chr17 6444415 6451469 + PIMREG protein_coding 54478 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0005515, protein binding, GO:0051301, GO:0007049, cell division, cell cycle, 0 1 0 0 0 0 1 0 0 ENSG00000129197 chr17 5419641 5432876 + RPAIN protein_coding 84268 GO:0016605, GO:0005737, GO:0005654, GO:0005634, GO:0001650, PML body, cytoplasm, nucleoplasm, nucleus, fibrillar center, GO:0046872, GO:0044877, GO:0005515, metal ion binding, protein-containing complex binding, protein binding, GO:0006606, GO:0006606, GO:0006310, GO:0006281, GO:0006261, protein import into nucleus, protein import into nucleus, DNA recombination, DNA repair, DNA-dependent DNA replication, 64 57 103 157 80 177 134 54 120 ENSG00000129204 chr17 5116438 5175034 + USP6 protein_coding 9098 GO:0055037, GO:0005886, GO:0005764, GO:0005737, recycling endosome, plasma membrane, lysosome, cytoplasm, GO:0031267, GO:0005516, GO:0005515, GO:0005096, GO:0004843, GO:0004197, GO:0003676, small GTPase binding, calmodulin binding, protein binding, GTPase activator activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, nucleic acid binding, GO:0090630, GO:0060627, GO:0016579, GO:0006886, GO:0006511, GO:0006464, activation of GTPase activity, regulation of vesicle-mediated transport, protein deubiquitination, intracellular protein transport, ubiquitin-dependent protein catabolic process, cellular protein modification process, 7 2 9 5 0 5 2 5 6 ENSG00000129214 chr17 7613946 7633383 + SHBG protein_coding This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 6462 GO:0070062, GO:0005576, extracellular exosome, extracellular region, GO:0005515, GO:0005497, GO:0005496, protein binding, androgen binding, steroid binding, 2 0 0 0 0 0 0 0 0 ENSG00000129219 chr17 4807096 4823434 + PLD2 protein_coding The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]. 5338 GO:0098793, GO:0005886, GO:0005789, presynapse, plasma membrane, endoplasmic reticulum membrane, GO:0070290, GO:0035091, GO:0005515, GO:0004630, N-acylphosphatidylethanolamine-specific phospholipase D activity, phosphatidylinositol binding, protein binding, phospholipase D activity, GO:0048870, GO:0048017, GO:0038096, GO:0036465, GO:0016042, GO:0007264, GO:0007010, GO:0006654, cell motility, inositol lipid-mediated signaling, Fc-gamma receptor signaling pathway involved in phagocytosis, synaptic vesicle recycling, lipid catabolic process, small GTPase mediated signal transduction, cytoskeleton organization, phosphatidic acid biosynthetic process, 64 48 71 102 71 78 88 55 94 ENSG00000129221 chr17 6393693 6435199 - AIPL1 protein_coding Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 23746 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0001917, cytosol, cytoplasm, nucleoplasm, nucleus, photoreceptor inner segment, GO:0051082, GO:0005515, GO:0003755, GO:0001918, unfolded protein binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, farnesylated protein binding, GO:0043066, GO:0022400, GO:0018343, GO:0007603, GO:0007601, GO:0001895, GO:0000413, negative regulation of apoptotic process, regulation of rhodopsin mediated signaling pathway, protein farnesylation, phototransduction, visible light, visual perception, retina homeostasis, protein peptidyl-prolyl isomerization, 0 0 0 0 0 0 0 0 0 ENSG00000129226 chr17 7579467 7582113 + CD68 protein_coding This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]. 968 GO:0035577, GO:0031902, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005765, GO:0005764, azurophil granule membrane, late endosome membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, lysosome, GO:0005515, protein binding, GO:0140052, GO:0072594, GO:0071222, GO:0043312, GO:0035425, GO:0031669, GO:0007568, GO:0002605, GO:0002437, cellular response to oxidised low-density lipoprotein particle stimulus, establishment of protein localization to organelle, cellular response to lipopolysaccharide, neutrophil degranulation, autocrine signaling, cellular response to nutrient levels, aging, negative regulation of dendritic cell antigen processing and presentation, inflammatory response to antigenic stimulus, 0 2 5 18 31 79 19 19 6 ENSG00000129235 chr17 6640758 6644541 + TXNDC17 protein_coding 84817 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0047134, GO:0047134, GO:0005515, GO:0004601, protein-disulfide reductase activity, protein-disulfide reductase activity, protein binding, peroxidase activity, GO:0098869, GO:0055114, GO:0033209, cellular oxidant detoxification, oxidation-reduction process, tumor necrosis factor-mediated signaling pathway, 145 69 141 63 79 100 113 112 89 ENSG00000129244 chr17 7646627 7657768 + ATP1B2 protein_coding The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]. 482 GO:0098984, GO:0097450, GO:0097449, GO:0097449, GO:0071944, GO:0044298, GO:0031253, GO:0016328, GO:0016324, GO:0016020, GO:0009897, GO:0005890, GO:0005890, GO:0005890, GO:0005886, GO:0005886, GO:0005737, GO:0001917, neuron to neuron synapse, astrocyte end-foot, astrocyte projection, astrocyte projection, cell periphery, cell body membrane, cell projection membrane, lateral plasma membrane, apical plasma membrane, membrane, external side of plasma membrane, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, plasma membrane, plasma membrane, cytoplasm, photoreceptor inner segment, GO:0051117, GO:0046982, GO:0005515, GO:0005391, GO:0005391, GO:0005391, GO:0001671, GO:0001671, ATPase binding, protein heterodimerization activity, protein binding, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, ATPase activator activity, ATPase activator activity, GO:1990573, GO:1990573, GO:1903976, GO:1903779, GO:1903288, GO:1903278, GO:1901018, GO:0150104, GO:0120036, GO:0086064, GO:0086009, GO:0061744, GO:0050900, GO:0050821, GO:0045494, GO:0036376, GO:0036376, GO:0034220, GO:0032781, GO:0031589, GO:0030007, GO:0030007, GO:0021944, GO:0021678, GO:0021670, GO:0010976, GO:0010248, GO:0006883, GO:0006883, GO:0001895, potassium ion import across plasma membrane, potassium ion import across plasma membrane, negative regulation of glial cell migration, regulation of cardiac conduction, positive regulation of potassium ion import across plasma membrane, positive regulation of sodium ion export across plasma membrane, positive regulation of potassium ion transmembrane transporter activity, transport across blood-brain barrier, plasma membrane bounded cell projection organization, cell communication by electrical coupling involved in cardiac conduction, membrane repolarization, motor behavior, leukocyte migration, protein stabilization, photoreceptor cell maintenance, sodium ion export across plasma membrane, sodium ion export across plasma membrane, ion transmembrane transport, positive regulation of ATPase activity, cell-substrate adhesion, cellular potassium ion homeostasis, cellular potassium ion homeostasis, neuronal-glial interaction involved in hindbrain glial-mediated radial cell migration, third ventricle development, lateral ventricle development, positive regulation of neuron projection development, establishment or maintenance of transmembrane electrochemical gradient, cellular sodium ion homeostasis, cellular sodium ion homeostasis, retina homeostasis, 1 0 0 0 2 0 0 0 0 ENSG00000129245 chr17 7591230 7614871 - FXR2 protein_coding The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]. 9513 GO:1902737, GO:0098793, GO:0044326, GO:0043197, GO:0043025, GO:0036464, GO:0030426, GO:0030424, GO:0022625, GO:0016020, GO:0016020, GO:0014069, GO:0005844, GO:0005829, GO:0005737, GO:0005634, dendritic filopodium, presynapse, dendritic spine neck, dendritic spine, neuronal cell body, cytoplasmic ribonucleoprotein granule, growth cone, axon, cytosolic large ribosomal subunit, membrane, membrane, postsynaptic density, polysome, cytosol, cytoplasm, nucleus, GO:0046982, GO:0045182, GO:0042803, GO:0042803, GO:0042802, GO:0005515, GO:0003730, GO:0003723, protein heterodimerization activity, translation regulator activity, protein homodimerization activity, protein homodimerization activity, identical protein binding, protein binding, mRNA 3'-UTR binding, RNA binding, GO:2001022, GO:0051489, GO:0045727, GO:0043488, GO:0017148, GO:0001934, GO:0000381, positive regulation of response to DNA damage stimulus, regulation of filopodium assembly, positive regulation of translation, regulation of mRNA stability, negative regulation of translation, positive regulation of protein phosphorylation, regulation of alternative mRNA splicing, via spliceosome, 310 329 324 181 252 203 169 189 151 ENSG00000129250 chr17 4997948 5028401 + KIF1C protein_coding The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]. 10749 GO:1904115, GO:0030425, GO:0030424, GO:0005874, GO:0005871, GO:0005794, GO:0005783, axon cytoplasm, dendrite, axon, microtubule, kinesin complex, Golgi apparatus, endoplasmic reticulum, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003774, GO:0003723, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, motor activity, RNA binding, GO:1990049, GO:1990048, GO:0030705, GO:0016192, GO:0007018, GO:0006890, retrograde neuronal dense core vesicle transport, anterograde neuronal dense core vesicle transport, cytoskeleton-dependent intracellular transport, vesicle-mediated transport, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 266 276 346 198 231 303 239 190 168 ENSG00000129255 chr17 7583529 7592789 + MPDU1 protein_coding This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. 9526 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0009312, GO:0009312, GO:0009312, GO:0006488, GO:0006457, oligosaccharide biosynthetic process, oligosaccharide biosynthetic process, oligosaccharide biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, protein folding, 78 86 92 203 300 344 127 263 197 ENSG00000129292 chr8 132775358 132848807 + PHF20L1 protein_coding 51105 GO:0044545, NSL complex, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0016573, GO:0006357, histone acetylation, regulation of transcription by RNA polymerase II, 4836 4857 6098 2866 4490 3902 3461 3168 3105 ENSG00000129295 chr8 132571953 132675617 - LRRC6 protein_coding The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]. 23639 GO:0005929, GO:0005737, GO:0005737, GO:0005576, cilium, cytoplasm, cytoplasm, extracellular region, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0061458, GO:0060287, GO:0044458, GO:0043393, GO:0036159, GO:0036158, GO:0030317, GO:0008584, GO:0003341, reproductive system development, epithelial cilium movement involved in determination of left/right asymmetry, motile cilium assembly, regulation of protein binding, inner dynein arm assembly, outer dynein arm assembly, flagellated sperm motility, male gonad development, cilium movement, 178 207 160 209 374 240 280 216 207 ENSG00000129315 chr12 48688458 48716998 - CCNT1 protein_coding This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. 904 GO:0070691, GO:0008024, GO:0008024, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, P-TEFb complex, cyclin/CDK positive transcription elongation factor complex, cyclin/CDK positive transcription elongation factor complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0097322, GO:0070063, GO:0061575, GO:0019901, GO:0016538, GO:0008134, GO:0005515, GO:0003682, GO:0003677, GO:0000976, 7SK snRNA binding, RNA polymerase binding, cyclin-dependent protein serine/threonine kinase activator activity, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, transcription factor binding, protein binding, chromatin binding, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1900364, GO:0051301, GO:0050434, GO:0045944, GO:0045944, GO:0045737, GO:0043923, GO:0042795, GO:0032786, GO:0016032, GO:0007049, GO:0006468, GO:0006368, GO:0006366, GO:0006357, GO:0000079, negative regulation of mRNA polyadenylation, cell division, positive regulation of viral transcription, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation by host of viral transcription, snRNA transcription by RNA polymerase II, positive regulation of DNA-templated transcription, elongation, viral process, cell cycle, protein phosphorylation, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 1371 1537 1423 2053 1608 2051 2046 1141 1574 ENSG00000129317 chr12 43718993 43758817 - PUS7L protein_coding 83448 GO:0005634, nucleus, GO:0009982, GO:0005515, GO:0003723, pseudouridine synthase activity, protein binding, RNA binding, GO:0001522, pseudouridine synthesis, 81 119 101 113 77 106 102 95 79 ENSG00000129347 chr19 10553078 10566037 - KRI1 protein_coding This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]. 65095 GO:0030686, GO:0005730, GO:0005730, 90S preribosome, nucleolus, nucleolus, GO:0003723, RNA binding, GO:0000447, endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 107 90 176 174 161 181 142 93 191 ENSG00000129351 chr19 10654261 10692417 + ILF3 protein_coding This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]. 3609 GO:1990904, GO:0016020, GO:0005739, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005576, ribonucleoprotein complex, membrane, mitochondrion, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, extracellular region, GO:0035925, GO:0005515, GO:0003727, GO:0003725, GO:0003725, GO:0003723, GO:0003723, GO:0003677, mRNA 3'-UTR AU-rich region binding, protein binding, single-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, RNA binding, RNA binding, DNA binding, GO:0051607, GO:0045893, GO:0045892, GO:0045071, GO:0017148, GO:0006468, defense response to virus, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of viral genome replication, negative regulation of translation, protein phosphorylation, 767 761 1241 2184 1169 1926 1879 864 1300 ENSG00000129353 chr19 10602457 10644559 + SLC44A2 protein_coding 57153 GO:0070062, GO:0035579, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005765, GO:0005739, extracellular exosome, specific granule membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, lysosomal membrane, mitochondrion, GO:0022857, GO:0015220, GO:0015220, GO:0015220, transmembrane transporter activity, choline transmembrane transporter activity, choline transmembrane transporter activity, choline transmembrane transporter activity, GO:0055085, GO:0055085, GO:0055085, GO:0043312, GO:0043123, GO:0015871, GO:0015871, GO:0015871, GO:0006656, transmembrane transport, transmembrane transport, transmembrane transport, neutrophil degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, choline transport, choline transport, choline transport, phosphatidylcholine biosynthetic process, 5986 6298 6586 3626 5413 4104 4242 4557 3586 ENSG00000129354 chr19 10572671 10587315 - AP1M2 protein_coding This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 10053 GO:0043231, GO:0043231, GO:0032588, GO:0031410, GO:0030665, GO:0030659, GO:0030136, GO:0030131, GO:0005829, GO:0005765, GO:0000139, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, trans-Golgi network membrane, cytoplasmic vesicle, clathrin-coated vesicle membrane, cytoplasmic vesicle membrane, clathrin-coated vesicle, clathrin adaptor complex, cytosol, lysosomal membrane, Golgi membrane, GO:0035615, GO:0005515, clathrin adaptor activity, protein binding, GO:0050690, GO:0019886, GO:0016192, GO:0006903, GO:0006605, regulation of defense response to virus by virus, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, vesicle targeting, protein targeting, 21 32 19 11 13 14 4 12 8 ENSG00000129355 chr19 10566462 10569059 - CDKN2D protein_coding The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]. 1032 GO:0097129, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, cyclin D2-CDK4 complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0019901, GO:0005515, GO:0004861, protein kinase binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, GO:2000134, GO:1902230, GO:0048102, GO:0045736, GO:0043154, GO:0042326, GO:0033280, GO:0032526, GO:0030308, GO:0009411, GO:0008285, GO:0007605, GO:0007050, GO:0000731, GO:0000082, GO:0000079, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, autophagic cell death, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of phosphorylation, response to vitamin D, response to retinoic acid, negative regulation of cell growth, response to UV, negative regulation of cell population proliferation, sensory perception of sound, cell cycle arrest, DNA synthesis involved in DNA repair, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 2452 2255 2538 469 1104 972 653 1189 1003 ENSG00000129422 chr8 17643795 17800917 - MTUS1 protein_coding This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]. 57509 GO:0015630, GO:0005886, GO:0005874, GO:0005819, GO:0005815, GO:0005794, GO:0005739, GO:0005737, GO:0005730, GO:0005634, GO:0005615, microtubule cytoskeleton, plasma membrane, microtubule, spindle, microtubule organizing center, Golgi apparatus, mitochondrion, cytoplasm, nucleolus, nucleus, extracellular space, GO:0008017, microtubule binding, GO:0010758, regulation of macrophage chemotaxis, 6 7 15 11 1 8 14 3 7 ENSG00000129437 chr19 51077495 51084245 - KLK14 protein_coding This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 43847 GO:0030141, GO:0005615, GO:0005576, secretory granule, extracellular space, extracellular region, GO:0004252, GO:0004252, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0070684, GO:0070684, GO:0070268, GO:0048730, GO:0048730, GO:0045745, GO:0045744, GO:0009566, GO:0006508, seminal clot liquefaction, seminal clot liquefaction, cornification, epidermis morphogenesis, epidermis morphogenesis, positive regulation of G protein-coupled receptor signaling pathway, negative regulation of G protein-coupled receptor signaling pathway, fertilization, proteolysis, 1 0 0 1 3 0 0 1 1 ENSG00000129450 chr19 51124908 51136651 + SIGLEC9 protein_coding 27180 GO:0030667, GO:0005887, GO:0005886, GO:0005886, secretory granule membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0033691, GO:0030246, GO:0005515, sialic acid binding, carbohydrate binding, protein binding, GO:0050776, GO:0043312, GO:0007166, GO:0007155, regulation of immune response, neutrophil degranulation, cell surface receptor signaling pathway, cell adhesion, 623 683 846 119 409 253 226 336 245 ENSG00000129451 chr19 51012739 51020175 - KLK10 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 5655 GO:0030141, GO:0005576, secretory granule, extracellular region, GO:0008236, GO:0004252, serine-type peptidase activity, serine-type endopeptidase activity, GO:0007049, GO:0006508, cell cycle, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000129455 chr19 50996007 51002711 - KLK8 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 11202 GO:0097180, GO:0030141, GO:0005737, GO:0005615, GO:0005576, serine protease inhibitor complex, secretory granule, cytoplasm, extracellular space, extracellular region, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0050808, GO:0050807, GO:0048812, GO:0048812, GO:0048681, GO:0043616, GO:0031642, GO:0009611, GO:0008219, GO:0007613, GO:0007613, GO:0006508, synapse organization, regulation of synapse organization, neuron projection morphogenesis, neuron projection morphogenesis, negative regulation of axon regeneration, keratinocyte proliferation, negative regulation of myelination, response to wounding, cell death, memory, memory, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000129460 chr14 23469688 23509862 + NGDN protein_coding Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]. 25983 GO:0032040, GO:0030425, GO:0030424, GO:0030175, GO:0005739, GO:0005730, GO:0005730, GO:0005654, GO:0000775, small-subunit processome, dendrite, axon, filopodium, mitochondrion, nucleolus, nucleolus, nucleoplasm, chromosome, centromeric region, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006417, GO:0000462, regulation of translation, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 56 54 65 83 42 65 62 38 49 ENSG00000129465 chr14 24336021 24340045 - RIPK3 protein_coding The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]. 11035 GO:0032991, GO:0005829, GO:0005829, GO:0005737, GO:0005634, protein-containing complex, cytosol, cytosol, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0044877, GO:0042802, GO:0005524, GO:0005515, GO:0004704, GO:0004674, GO:0004674, GO:0004672, GO:0004672, GO:0004672, GO:0003713, protein threonine kinase activity, protein serine kinase activity, protein-containing complex binding, identical protein binding, ATP binding, protein binding, NF-kappaB-inducing kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, protein kinase activity, transcription coactivator activity, GO:2001244, GO:2000452, GO:2000379, GO:1990000, GO:1903508, GO:0097528, GO:0097527, GO:0097300, GO:0097190, GO:0070301, GO:0070266, GO:0070266, GO:0070235, GO:0060545, GO:0060545, GO:0051607, GO:0051353, GO:0051351, GO:0051092, GO:0048538, GO:0048536, GO:0048535, GO:0046777, GO:0046006, GO:0043029, GO:0042981, GO:0038061, GO:0033077, GO:0032649, GO:0032147, GO:0010922, GO:0007249, GO:0007165, GO:0006464, GO:0002819, GO:0001914, positive regulation of intrinsic apoptotic signaling pathway, regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation, positive regulation of reactive oxygen species metabolic process, amyloid fibril formation, positive regulation of nucleic acid-templated transcription, execution phase of necroptosis, necroptotic signaling pathway, programmed necrotic cell death, apoptotic signaling pathway, cellular response to hydrogen peroxide, necroptotic process, necroptotic process, regulation of activation-induced cell death of T cells, positive regulation of necroptotic process, positive regulation of necroptotic process, defense response to virus, positive regulation of oxidoreductase activity, positive regulation of ligase activity, positive regulation of NF-kappaB transcription factor activity, thymus development, spleen development, lymph node development, protein autophosphorylation, regulation of activated T cell proliferation, T cell homeostasis, regulation of apoptotic process, NIK/NF-kappaB signaling, T cell differentiation in thymus, regulation of interferon-gamma production, activation of protein kinase activity, positive regulation of phosphatase activity, I-kappaB kinase/NF-kappaB signaling, signal transduction, cellular protein modification process, regulation of adaptive immune response, regulation of T cell mediated cytotoxicity, 231 211 224 217 296 234 241 158 267 ENSG00000129467 chr14 24318349 24335093 - ADCY4 protein_coding This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]. 196883 GO:0030425, GO:0016020, GO:0005887, GO:0005886, GO:0005737, dendrite, membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0046872, GO:0005524, GO:0005515, GO:0005080, GO:0004016, GO:0004016, metal ion binding, ATP binding, protein binding, protein kinase C binding, adenylate cyclase activity, adenylate cyclase activity, GO:0071377, GO:0034199, GO:0007193, GO:0007190, GO:0007189, GO:0007189, GO:0007188, GO:0007186, GO:0006171, GO:0003091, cellular response to glucagon stimulus, activation of protein kinase A activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cAMP biosynthetic process, renal water homeostasis, 203 175 219 219 227 336 224 171 237 ENSG00000129472 chr14 21459020 21476973 - RAB2B protein_coding Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006]. 84932 GO:0098793, GO:0070062, GO:0005886, GO:0005794, GO:0005789, GO:0000139, presynapse, extracellular exosome, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0045921, GO:0016192, GO:0015031, positive regulation of exocytosis, vesicle-mediated transport, protein transport, 86 80 140 114 150 149 150 97 106 ENSG00000129473 chr14 23298790 23311759 + BCL2L2 protein_coding This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]. 599 GO:0097136, GO:0042405, GO:0005829, GO:0005741, Bcl-2 family protein complex, nuclear inclusion body, cytosol, mitochondrial outer membrane, GO:0097718, GO:0051400, GO:0046982, GO:0044877, GO:0042803, GO:0042802, GO:0005515, disordered domain specific binding, BH domain binding, protein heterodimerization activity, protein-containing complex binding, protein homodimerization activity, identical protein binding, protein binding, GO:2001243, GO:1905430, GO:1904646, GO:0097192, GO:0090201, GO:0071392, GO:0060011, GO:0043066, GO:0035795, GO:0008630, GO:0007420, GO:0007283, GO:0002931, negative regulation of intrinsic apoptotic signaling pathway, cellular response to glycine, cellular response to amyloid-beta, extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of release of cytochrome c from mitochondria, cellular response to estradiol stimulus, Sertoli cell proliferation, negative regulation of apoptotic process, negative regulation of mitochondrial membrane permeability, intrinsic apoptotic signaling pathway in response to DNA damage, brain development, spermatogenesis, response to ischemia, 17 43 13 145 180 156 167 127 102 ENSG00000129474 chr14 22971174 22982642 - AJUBA protein_coding 84962 GO:0030027, GO:0005925, GO:0005912, GO:0005911, GO:0005886, GO:0005829, GO:0005829, GO:0005815, GO:0005794, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000932, GO:0000932, lamellipodium, focal adhesion, adherens junction, cell-cell junction, plasma membrane, cytosol, cytosol, microtubule organizing center, Golgi apparatus, transcription regulator complex, nucleoplasm, nucleus, nucleus, P-body, P-body, GO:0051015, GO:0046872, GO:0045294, GO:0005515, GO:0003714, GO:0003714, GO:0003682, actin filament binding, metal ion binding, alpha-catenin binding, protein binding, transcription corepressor activity, transcription corepressor activity, chromatin binding, GO:2000637, GO:2000637, GO:1900037, GO:0048041, GO:0046474, GO:0043406, GO:0043123, GO:0043087, GO:0035331, GO:0035331, GO:0035313, GO:0035195, GO:0034613, GO:0033673, GO:0031334, GO:0031328, GO:0030334, GO:0030032, GO:0016339, GO:0007010, GO:0006355, GO:0001666, GO:0001666, GO:0000122, GO:0000086, positive regulation of gene silencing by miRNA, positive regulation of gene silencing by miRNA, regulation of cellular response to hypoxia, focal adhesion assembly, glycerophospholipid biosynthetic process, positive regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of GTPase activity, negative regulation of hippo signaling, negative regulation of hippo signaling, wound healing, spreading of epidermal cells, gene silencing by miRNA, cellular protein localization, negative regulation of kinase activity, positive regulation of protein-containing complex assembly, positive regulation of cellular biosynthetic process, regulation of cell migration, lamellipodium assembly, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, cytoskeleton organization, regulation of transcription, DNA-templated, response to hypoxia, response to hypoxia, negative regulation of transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, 7 0 1 5 6 5 1 4 1 ENSG00000129480 chr14 31446036 31457510 - DTD2 protein_coding 112487 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0106105, GO:0051500, GO:0005515, GO:0000049, Ala-tRNA(Thr) hydrolase activity, D-tyrosyl-tRNA(Tyr) deacylase activity, protein binding, tRNA binding, GO:0106074, GO:0006399, aminoacyl-tRNA metabolism involved in translational fidelity, tRNA metabolic process, 1 3 7 13 2 22 5 5 20 ENSG00000129484 chr14 20343582 20357905 + PARP2 protein_coding This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008]. 10038 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:1990404, GO:1990404, GO:0140294, GO:0005515, GO:0003950, GO:0003677, protein ADP-ribosylase activity, protein ADP-ribosylase activity, NAD DNA ADP-ribosyltransferase activity, protein binding, NAD+ ADP-ribosyltransferase activity, DNA binding, GO:1901215, GO:0097191, GO:0070212, GO:0070212, GO:0061051, GO:0030592, GO:0018312, GO:0006471, GO:0006302, GO:0006284, GO:0006281, negative regulation of neuron death, extrinsic apoptotic signaling pathway, protein poly-ADP-ribosylation, protein poly-ADP-ribosylation, positive regulation of cell growth involved in cardiac muscle cell development, DNA ADP-ribosylation, peptidyl-serine ADP-ribosylation, protein ADP-ribosylation, double-strand break repair, base-excision repair, DNA repair, 13 2 9 12 3 23 19 10 24 ENSG00000129493 chr14 31291791 31420582 - HEATR5A protein_coding 25938 GO:0030139, GO:0005829, endocytic vesicle, cytosol, GO:0042147, GO:0008104, GO:0006897, retrograde transport, endosome to Golgi, protein localization, endocytosis, 428 335 525 391 496 574 384 297 394 ENSG00000129514 chr14 37589984 37596059 - FOXA1 protein_coding This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq, Jul 2008]. 3169 GO:0005902, GO:0005654, GO:0005654, GO:0005634, GO:0001650, GO:0000785, GO:0000785, microvillus, nucleoplasm, nucleoplasm, nucleus, fibrillar center, chromatin, chromatin, GO:1990837, GO:0019904, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein domain specific binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000049, GO:1902691, GO:0071542, GO:0061144, GO:0060743, GO:0060741, GO:0060740, GO:0060738, GO:0060528, GO:0060487, GO:0060441, GO:0051091, GO:0048665, GO:0048646, GO:0045944, GO:0045944, GO:0045931, GO:0045880, GO:0045666, GO:0043065, GO:0042593, GO:0042445, GO:0033148, GO:0032355, GO:0030154, GO:0021904, GO:0010719, GO:0009653, GO:0007219, GO:0006357, GO:0006338, GO:0000122, positive regulation of cell-cell adhesion mediated by cadherin, respiratory basal cell differentiation, dopaminergic neuron differentiation, alveolar secondary septum development, epithelial cell maturation involved in prostate gland development, prostate gland stromal morphogenesis, prostate gland epithelium morphogenesis, epithelial-mesenchymal signaling involved in prostate gland development, secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development, lung epithelial cell differentiation, epithelial tube branching involved in lung morphogenesis, positive regulation of DNA-binding transcription factor activity, neuron fate specification, anatomical structure formation involved in morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, positive regulation of smoothened signaling pathway, positive regulation of neuron differentiation, positive regulation of apoptotic process, glucose homeostasis, hormone metabolic process, positive regulation of intracellular estrogen receptor signaling pathway, response to estradiol, cell differentiation, dorsal/ventral neural tube patterning, negative regulation of epithelial to mesenchymal transition, anatomical structure morphogenesis, Notch signaling pathway, regulation of transcription by RNA polymerase II, chromatin remodeling, negative regulation of transcription by RNA polymerase II, 0 0 0 1 0 4 0 0 0 ENSG00000129515 chr14 34561094 34630183 - SNX6 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]. 58533 GO:0097422, GO:0031901, GO:0030905, GO:0030904, GO:0005829, GO:0005768, GO:0005737, GO:0005634, tubular endosome, early endosome membrane, retromer, tubulation complex, retromer complex, cytosol, endosome, cytoplasm, nucleus, GO:0042803, GO:0035091, GO:0034452, GO:0034452, GO:0005515, protein homodimerization activity, phosphatidylinositol binding, dynactin binding, dynactin binding, protein binding, GO:1904646, GO:1903593, GO:0045892, GO:0043524, GO:0042147, GO:0042147, GO:0042147, GO:0030512, GO:0016241, GO:0007175, GO:0006886, GO:0006886, cellular response to amyloid-beta, regulation of histamine secretion by mast cell, negative regulation of transcription, DNA-templated, negative regulation of neuron apoptotic process, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, negative regulation of transforming growth factor beta receptor signaling pathway, regulation of macroautophagy, negative regulation of epidermal growth factor-activated receptor activity, intracellular protein transport, intracellular protein transport, 1054 763 1047 591 817 854 815 682 684 ENSG00000129518 chr14 34515929 34539711 - EAPP protein_coding This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 55837 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0034244, GO:0032968, GO:0008284, GO:0008284, negative regulation of transcription elongation from RNA polymerase II promoter, positive regulation of transcription elongation from RNA polymerase II promoter, positive regulation of cell population proliferation, positive regulation of cell population proliferation, 474 487 442 149 323 223 166 324 275 ENSG00000129521 chr14 33924231 34462774 - EGLN3 protein_coding 112399 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0031545, GO:0031545, GO:0031545, GO:0031543, GO:0031418, GO:0016706, GO:0008198, GO:0005515, peptidyl-proline 4-dioxygenase activity, peptidyl-proline 4-dioxygenase activity, peptidyl-proline 4-dioxygenase activity, peptidyl-proline dioxygenase activity, L-ascorbic acid binding, 2-oxoglutarate-dependent dioxygenase activity, ferrous iron binding, protein binding, GO:0071456, GO:0061418, GO:0055114, GO:0043523, GO:0042127, GO:0018401, GO:0018401, GO:0018126, GO:0006974, GO:0006919, GO:0006915, GO:0001666, cellular response to hypoxia, regulation of transcription from RNA polymerase II promoter in response to hypoxia, oxidation-reduction process, regulation of neuron apoptotic process, regulation of cell population proliferation, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, protein hydroxylation, cellular response to DNA damage stimulus, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, response to hypoxia, 2 2 4 13 3 19 16 1 8 ENSG00000129534 chr14 45203190 45253540 - MIS18BP1 protein_coding 55320 GO:0005654, GO:0000778, nucleoplasm, condensed nuclear chromosome kinetochore, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0051301, GO:0034080, GO:0007049, cell division, CENP-A containing nucleosome assembly, cell cycle, 345 411 459 243 426 351 254 308 336 ENSG00000129535 chr14 24080107 24115014 - NRL protein_coding This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]. 4901 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990841, GO:1990837, GO:0043522, GO:0005515, GO:0003677, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, leucine zipper domain binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050896, GO:0046548, GO:0045944, GO:0045944, GO:0045944, GO:0007601, GO:0006357, response to stimulus, retinal rod cell development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, visual perception, regulation of transcription by RNA polymerase II, 75 67 70 81 94 128 100 98 74 ENSG00000129538 chr14 20801228 20803278 - RNASE1 protein_coding This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 6035 GO:0070062, extracellular exosome, GO:0016829, GO:0005515, GO:0004540, GO:0004540, GO:0004522, GO:0003676, lyase activity, protein binding, ribonuclease activity, ribonuclease activity, ribonuclease A activity, nucleic acid binding, GO:0090502, GO:0090501, GO:0090501, GO:0051607, RNA phosphodiester bond hydrolysis, endonucleolytic, RNA phosphodiester bond hydrolysis, RNA phosphodiester bond hydrolysis, defense response to virus, 0 0 0 0 1 0 0 1 0 ENSG00000129559 chr14 24216852 24232454 - NEDD8 protein_coding 4738 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0031625, GO:0031625, GO:0031386, GO:0005515, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein tag, protein binding, GO:0045116, GO:0045116, GO:0043687, GO:0030162, GO:0019941, GO:0016579, GO:0016567, GO:0016567, GO:0014070, GO:0009653, GO:0008104, GO:0006879, GO:0006511, GO:0006508, GO:0006464, GO:0006357, protein neddylation, protein neddylation, post-translational protein modification, regulation of proteolysis, modification-dependent protein catabolic process, protein deubiquitination, protein ubiquitination, protein ubiquitination, response to organic cyclic compound, anatomical structure morphogenesis, protein localization, cellular iron ion homeostasis, ubiquitin-dependent protein catabolic process, proteolysis, cellular protein modification process, regulation of transcription by RNA polymerase II, 175 122 227 94 158 163 133 139 144 ENSG00000129562 chr14 22564905 22589269 - DAD1 protein_coding DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008]. 1603 GO:0016021, GO:0016020, GO:0008250, GO:0008250, GO:0008250, GO:0008250, GO:0005789, integral component of membrane, membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, oligosaccharyltransferase complex, oligosaccharyltransferase complex, endoplasmic reticulum membrane, GO:0008047, enzyme activator activity, GO:0043085, GO:0043066, GO:0042493, GO:0031647, GO:0018279, GO:0018279, GO:0007584, GO:0006915, GO:0006487, GO:0006487, GO:0006486, GO:0001824, positive regulation of catalytic activity, negative regulation of apoptotic process, response to drug, regulation of protein stability, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, response to nutrient, apoptotic process, protein N-linked glycosylation, protein N-linked glycosylation, protein glycosylation, blastocyst development, 341 342 382 213 359 275 209 344 265 ENSG00000129566 chr14 20365667 20413429 - TEP1 protein_coding This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 7011 GO:1990904, GO:0016363, GO:0005737, GO:0005697, GO:0005697, GO:0000781, ribonucleoprotein complex, nuclear matrix, cytoplasm, telomerase holoenzyme complex, telomerase holoenzyme complex, chromosome, telomeric region, GO:0070034, GO:0070034, GO:0019899, GO:0005524, GO:0005515, GO:0003723, GO:0003720, GO:0003720, GO:0002039, telomerase RNA binding, telomerase RNA binding, enzyme binding, ATP binding, protein binding, RNA binding, telomerase activity, telomerase activity, p53 binding, GO:0006278, GO:0000722, GO:0000722, RNA-dependent DNA biosynthetic process, telomere maintenance via recombination, telomere maintenance via recombination, 824 1199 1177 838 1395 1241 886 918 1023 ENSG00000129595 chr5 112142441 112419316 - EPB41L4A protein_coding The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]. 64097 GO:0005856, GO:0005737, GO:0005575, cytoskeleton, cytoplasm, cellular_component, GO:0008092, GO:0003674, cytoskeletal protein binding, molecular_function, GO:0031032, GO:0008150, actomyosin structure organization, biological_process, 5 3 15 10 10 32 5 3 1 ENSG00000129596 chr5 115804733 115816954 - CDO1 protein_coding 1036 GO:0005829, cytosol, GO:0017172, GO:0017172, GO:0016702, GO:0008198, cysteine dioxygenase activity, cysteine dioxygenase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, ferrous iron binding, GO:0055114, GO:0051591, GO:0051384, GO:0045471, GO:0043200, GO:0042412, GO:0042412, GO:0033762, GO:0019448, GO:0019448, GO:0007595, GO:0006954, GO:0006534, GO:0000097, oxidation-reduction process, response to cAMP, response to glucocorticoid, response to ethanol, response to amino acid, taurine biosynthetic process, taurine biosynthetic process, response to glucagon, L-cysteine catabolic process, L-cysteine catabolic process, lactation, inflammatory response, cysteine metabolic process, sulfur amino acid biosynthetic process, 1 1 0 2 0 0 2 2 0 ENSG00000129625 chr5 112876379 112922539 - REEP5 protein_coding 7905 GO:0071782, GO:0016021, endoplasmic reticulum tubular network, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0032386, GO:0008150, GO:0007029, regulation of intracellular transport, biological_process, endoplasmic reticulum organization, 569 518 831 264 386 342 238 420 295 ENSG00000129636 chr16 47154387 47464149 - ITFG1 protein_coding 81533 GO:0070062, GO:0016021, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, 213 192 202 91 180 136 136 162 132 ENSG00000129646 chr17 76274049 76307998 - QRICH2 protein_coding 84074 GO:0036126, GO:0031965, GO:0005737, sperm flagellum, nuclear membrane, cytoplasm, GO:0005515, protein binding, GO:2000059, GO:0030317, GO:0030031, negative regulation of ubiquitin-dependent protein catabolic process, flagellated sperm motility, cell projection assembly, 13 24 27 20 45 28 41 39 22 ENSG00000129654 chr17 76136333 76141299 - FOXJ1 protein_coding This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]. 2302 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901248, GO:0090630, GO:0072016, GO:0060972, GO:0060429, GO:0060428, GO:0060428, GO:0060271, GO:0060271, GO:0050900, GO:0050869, GO:0045944, GO:0044458, GO:0042130, GO:0035502, GO:0035089, GO:0035082, GO:0034613, GO:0033085, GO:0032715, GO:0032088, GO:0032053, GO:0030036, GO:0007507, GO:0007420, GO:0007420, GO:0007389, GO:0007368, GO:0007283, GO:0006959, GO:0006357, GO:0002924, GO:0002897, GO:0002635, GO:0002508, GO:0000122, positive regulation of lung ciliated cell differentiation, activation of GTPase activity, glomerular parietal epithelial cell development, left/right pattern formation, epithelium development, lung epithelium development, lung epithelium development, cilium assembly, cilium assembly, leukocyte migration, negative regulation of B cell activation, positive regulation of transcription by RNA polymerase II, motile cilium assembly, negative regulation of T cell proliferation, metanephric part of ureteric bud development, establishment of apical/basal cell polarity, axoneme assembly, cellular protein localization, negative regulation of T cell differentiation in thymus, negative regulation of interleukin-6 production, negative regulation of NF-kappaB transcription factor activity, ciliary basal body organization, actin cytoskeleton organization, heart development, brain development, brain development, pattern specification process, determination of left/right symmetry, spermatogenesis, humoral immune response, regulation of transcription by RNA polymerase II, negative regulation of humoral immune response mediated by circulating immunoglobulin, positive regulation of central B cell tolerance induction, negative regulation of germinal center formation, central tolerance induction, negative regulation of transcription by RNA polymerase II, 4 5 5 0 1 0 2 0 0 ENSG00000129657 chr17 77088749 77217101 + SEC14L1 protein_coding The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]. 6397 GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005654, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, GO:0039552, GO:0005515, RIG-I binding, protein binding, GO:0045087, GO:0039536, GO:0015871, innate immune response, negative regulation of RIG-I signaling pathway, choline transport, 15599 18703 17367 8430 15795 11097 9855 11455 9019 ENSG00000129667 chr17 76470891 76501790 - RHBDF2 protein_coding 79651 GO:0016021, GO:0005886, GO:0005789, GO:0005789, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0019838, GO:0005515, GO:0004252, growth factor binding, protein binding, serine-type endopeptidase activity, GO:0050709, GO:0050708, GO:0042058, GO:0015031, GO:0006508, negative regulation of protein secretion, regulation of protein secretion, regulation of epidermal growth factor receptor signaling pathway, protein transport, proteolysis, 861 710 1102 511 586 662 638 445 593 ENSG00000129673 chr17 76453351 76470117 + AANAT protein_coding The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 15 GO:0048471, GO:0005829, GO:0005829, GO:0005737, perinuclear region of cytoplasm, cytosol, cytosol, cytoplasm, GO:0071889, GO:0005515, GO:0004060, GO:0004059, GO:0004059, GO:0004059, 14-3-3 protein binding, protein binding, arylamine N-acetyltransferase activity, aralkylamine N-acetyltransferase activity, aralkylamine N-acetyltransferase activity, aralkylamine N-acetyltransferase activity, GO:0071320, GO:0051592, GO:0051412, GO:0046688, GO:0046219, GO:0034695, GO:0034097, GO:0032868, GO:0030187, GO:0030187, GO:0030187, GO:0010043, GO:0009648, GO:0009416, GO:0007623, GO:0007623, GO:0006474, cellular response to cAMP, response to calcium ion, response to corticosterone, response to copper ion, indolalkylamine biosynthetic process, response to prostaglandin E, response to cytokine, response to insulin, melatonin biosynthetic process, melatonin biosynthetic process, melatonin biosynthetic process, response to zinc ion, photoperiodism, response to light stimulus, circadian rhythm, circadian rhythm, N-terminal protein amino acid acetylation, 16 19 23 5 19 13 7 16 18 ENSG00000129675 chrX 136665547 136782088 - ARHGEF6 protein_coding Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]. 9459 GO:0030027, GO:0005829, lamellipodium, cytosol, GO:0005515, GO:0005096, GO:0005085, GO:0005085, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0043547, GO:0043065, GO:0030032, GO:0007254, GO:0007186, GO:0006915, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, positive regulation of apoptotic process, lamellipodium assembly, JNK cascade, G protein-coupled receptor signaling pathway, apoptotic process, 1054 1116 1647 743 785 942 705 606 793 ENSG00000129680 chrX 136213220 136256482 - MAP7D3 protein_coding The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Mar 2010]. 79649 GO:0016020, GO:0015630, GO:0005819, GO:0005737, membrane, microtubule cytoskeleton, spindle, cytoplasm, GO:0015631, GO:0008017, tubulin binding, microtubule binding, GO:0046785, GO:0000226, GO:0000226, microtubule polymerization, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 2 6 18 34 12 35 20 15 12 ENSG00000129682 chrX 138614731 139222777 - FGF13 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]. 2258 GO:0043005, GO:0030426, GO:0030425, GO:0030424, GO:0030175, GO:0016328, GO:0014704, GO:0005886, GO:0005874, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005730, GO:0005634, GO:0005634, GO:0005634, GO:0005576, neuron projection, growth cone, dendrite, axon, filopodium, lateral plasma membrane, intercalated disc, plasma membrane, microtubule, cytosol, cytoplasm, cytoplasm, cytoplasm, nucleolus, nucleus, nucleus, nucleus, extracellular region, GO:0048487, GO:0044325, GO:0030295, GO:0017080, GO:0017080, GO:0017080, GO:0008083, GO:0008017, GO:0005515, beta-tubulin binding, ion channel binding, protein kinase activator activity, sodium channel regulator activity, sodium channel regulator activity, sodium channel regulator activity, growth factor activity, microtubule binding, protein binding, GO:1905150, GO:1904862, GO:0098909, GO:0072659, GO:0048671, GO:0046785, GO:0045200, GO:0032147, GO:0021795, GO:0021766, GO:0007613, GO:0007612, GO:0007399, GO:0007267, GO:0007165, GO:0007026, GO:0006814, GO:0001764, GO:0000165, regulation of voltage-gated sodium channel activity, inhibitory synapse assembly, regulation of cardiac muscle cell action potential involved in regulation of contraction, protein localization to plasma membrane, negative regulation of collateral sprouting, microtubule polymerization, establishment of neuroblast polarity, activation of protein kinase activity, cerebral cortex cell migration, hippocampus development, memory, learning, nervous system development, cell-cell signaling, signal transduction, negative regulation of microtubule depolymerization, sodium ion transport, neuron migration, MAPK cascade, 30 35 0 57 32 0 65 16 2 ENSG00000129691 chr8 38105242 38144076 + ASH2L protein_coding 9070 GO:0071339, GO:0048188, GO:0048188, GO:0044666, GO:0035097, GO:0035097, GO:0005654, GO:0005634, GO:0005634, GO:0000791, MLL1 complex, Set1C/COMPASS complex, Set1C/COMPASS complex, MLL3/4 complex, histone methyltransferase complex, histone methyltransferase complex, nucleoplasm, nucleus, nucleus, euchromatin, GO:1990188, GO:0046872, GO:0042800, GO:0042800, GO:0008013, GO:0005515, GO:0000976, GO:0000976, euchromatin binding, metal ion binding, histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), beta-catenin binding, protein binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1904837, GO:0051568, GO:0051568, GO:0045944, GO:0045652, GO:0043627, GO:0030097, GO:0008284, GO:0006974, beta-catenin-TCF complex assembly, histone H3-K4 methylation, histone H3-K4 methylation, positive regulation of transcription by RNA polymerase II, regulation of megakaryocyte differentiation, response to estrogen, hemopoiesis, positive regulation of cell population proliferation, cellular response to DNA damage stimulus, 167 180 172 146 171 139 179 141 129 ENSG00000129696 chr8 33473386 33513601 - TTI2 protein_coding This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]. 80185 GO:0070209, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0005654, GO:0005654, ASTRA complex, cytosol, cytosol, centrosome, centrosome, nucleoplasm, nucleoplasm, 31 46 37 39 40 69 20 51 34 ENSG00000129744 chr11 3645128 3664416 + ART1 protein_coding ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008]. 417 GO:0033017, GO:0031225, GO:0009986, GO:0005886, sarcoplasmic reticulum membrane, anchored component of membrane, cell surface, plasma membrane, GO:0106275, GO:0106274, GO:0003956, GO:0003950, NADP+-protein-arginine ADP-ribosyltransferase activity, NAD+-protein-arginine ADP-ribosyltransferase activity, NAD(P)+-protein-arginine ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, GO:0018120, peptidyl-arginine ADP-ribosylation, 0 0 0 1 3 1 2 2 2 ENSG00000129749 chr11 3665587 3671384 - CHRNA10 protein_coding 57053 GO:0099060, GO:0098981, GO:0045202, GO:0043204, GO:0043005, GO:0030424, GO:0016020, GO:0005887, integral component of postsynaptic specialization membrane, cholinergic synapse, synapse, perikaryon, neuron projection, axon, membrane, integral component of plasma membrane, GO:0030594, GO:0022848, GO:0005262, GO:0005102, GO:0004888, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, calcium channel activity, signaling receptor binding, transmembrane signaling receptor activity, GO:0070588, GO:0070373, GO:0060079, GO:0050910, GO:0050877, GO:0042472, GO:0042391, GO:0042127, GO:0034220, GO:0007271, GO:0007268, GO:0007204, GO:0007165, calcium ion transmembrane transport, negative regulation of ERK1 and ERK2 cascade, excitatory postsynaptic potential, detection of mechanical stimulus involved in sensory perception of sound, nervous system process, inner ear morphogenesis, regulation of membrane potential, regulation of cell population proliferation, ion transmembrane transport, synaptic transmission, cholinergic, chemical synaptic transmission, positive regulation of cytosolic calcium ion concentration, signal transduction, 35 25 49 39 45 43 58 46 26 ENSG00000129757 chr11 2883213 2885773 - CDKN1C protein_coding This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]. 1028 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0044877, GO:0005515, GO:0004861, GO:0004860, protein-containing complex binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, protein kinase inhibitor activity, GO:1904030, GO:1902746, GO:0071514, GO:0060669, GO:0060065, GO:0055123, GO:0050680, GO:0045930, GO:0045893, GO:0045892, GO:0045736, GO:0043010, GO:0042551, GO:0042326, GO:0035264, GO:0033673, GO:0030511, GO:0030325, GO:0030099, GO:0007568, GO:0007096, GO:0007050, GO:0001822, GO:0001501, GO:0000122, negative regulation of cyclin-dependent protein kinase activity, regulation of lens fiber cell differentiation, genetic imprinting, embryonic placenta morphogenesis, uterus development, digestive system development, negative regulation of epithelial cell proliferation, negative regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, camera-type eye development, neuron maturation, negative regulation of phosphorylation, multicellular organism growth, negative regulation of kinase activity, positive regulation of transforming growth factor beta receptor signaling pathway, adrenal gland development, myeloid cell differentiation, aging, regulation of exit from mitosis, cell cycle arrest, kidney development, skeletal system development, negative regulation of transcription by RNA polymerase II, 15 27 9 61 88 61 47 77 27 ENSG00000129810 chr3 20160593 20186292 - SGO1 protein_coding The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]. 151648 GO:0016604, GO:0005829, GO:0005829, GO:0005813, GO:0005654, GO:0000922, GO:0000779, GO:0000779, GO:0000777, GO:0000776, GO:0000776, GO:0000776, GO:0000775, nuclear body, cytosol, cytosol, centrosome, nucleoplasm, spindle pole, condensed chromosome, centromeric region, condensed chromosome, centromeric region, condensed chromosome kinetochore, kinetochore, kinetochore, kinetochore, chromosome, centromeric region, GO:0019900, GO:0005515, kinase binding, protein binding, GO:0071962, GO:0051301, GO:0051177, GO:0045143, GO:0045132, GO:0010457, GO:0010457, GO:0008608, GO:0007059, GO:0000070, mitotic sister chromatid cohesion, centromeric, cell division, meiotic sister chromatid cohesion, homologous chromosome segregation, meiotic chromosome segregation, centriole-centriole cohesion, centriole-centriole cohesion, attachment of spindle microtubules to kinetochore, chromosome segregation, mitotic sister chromatid segregation, 12 5 43 29 7 23 15 7 10 ENSG00000129816 chrY 6390431 6411564 + TTTY1B lincRNA 100101116 0 0 0 0 0 0 0 0 0 ENSG00000129824 chrY 2841486 2932000 + RPS4Y1 protein_coding Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6192 GO:0022627, GO:0022627, GO:0016020, GO:0005844, GO:0005829, GO:0005654, GO:0005634, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, polysome, cytosol, nucleoplasm, nucleus, GO:0019843, GO:0005515, GO:0003735, GO:0003735, GO:0003723, rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0007275, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000184, viral transcription, multicellular organism development, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 296 208 390 562 371 765 477 324 515 ENSG00000129845 chrY 9753156 9774289 - TTTY1 lincRNA 50858 0 0 0 0 0 0 0 0 0 ENSG00000129862 chrY 14056217 14056958 + VCY1B protein_coding The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. 353513 GO:0005515, protein binding, GO:0007420, brain development, 0 0 0 0 0 0 0 0 0 ENSG00000129864 chrY 13985772 13986513 - VCY protein_coding The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. 9084 GO:0005515, protein binding, GO:0007420, brain development, 0 0 0 0 0 0 0 0 0 ENSG00000129873 chrY 17877410 17880220 - CDY2B protein_coding This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]. 203611 GO:0005634, nucleus, GO:0004402, GO:0003714, histone acetyltransferase activity, transcription corepressor activity, GO:1903507, GO:0016573, GO:0007283, negative regulation of nucleic acid-templated transcription, histone acetylation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000129910 chr16 89171767 89195492 + CDH15 protein_coding This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]. 1013 GO:0070062, GO:0031594, GO:0016342, GO:0016021, GO:0005901, GO:0005886, GO:0005886, GO:0005794, extracellular exosome, neuromuscular junction, catenin complex, integral component of membrane, caveola, plasma membrane, plasma membrane, Golgi apparatus, GO:0045296, GO:0005515, GO:0005509, cadherin binding, protein binding, calcium ion binding, GO:0098742, GO:0051149, GO:0034332, GO:0007156, GO:0007155, cell-cell adhesion via plasma-membrane adhesion molecules, positive regulation of muscle cell differentiation, adherens junction organization, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000129911 chr19 1852399 1863568 - KLF16 protein_coding 83855 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007212, GO:0006357, GO:0000122, dopamine receptor signaling pathway, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 748 864 728 338 521 397 430 537 415 ENSG00000129925 chr16 370773 387113 - TMEM8A protein_coding 58986 GO:0070062, GO:0005887, GO:0005886, GO:0005765, extracellular exosome, integral component of plasma membrane, plasma membrane, lysosomal membrane, GO:0102568, GO:0102567, GO:0005515, GO:0004623, GO:0003674, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), protein binding, phospholipase A2 activity, molecular_function, GO:0008150, biological_process, 1257 1107 1293 588 909 662 746 852 626 ENSG00000129932 chr19 3490822 3500940 - DOHH protein_coding This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]. 83475 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0019135, GO:0019135, GO:0016491, GO:0005515, GO:0005506, GO:0005506, deoxyhypusine monooxygenase activity, deoxyhypusine monooxygenase activity, oxidoreductase activity, protein binding, iron ion binding, iron ion binding, GO:0055114, GO:0008612, GO:0008612, GO:0008612, oxidation-reduction process, peptidyl-lysine modification to peptidyl-hypusine, peptidyl-lysine modification to peptidyl-hypusine, peptidyl-lysine modification to peptidyl-hypusine, 2 7 21 17 5 19 13 3 6 ENSG00000129933 chr19 19320681 19358755 + MAU2 protein_coding 23383 GO:0090694, GO:0032116, GO:0032116, GO:0032116, GO:0016604, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, Scc2-Scc4 cohesin loading complex, SMC loading complex, SMC loading complex, SMC loading complex, nuclear body, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0047485, GO:0005515, GO:0003690, protein N-terminus binding, protein binding, double-stranded DNA binding, GO:0071921, GO:0051301, GO:0034088, GO:0034088, cohesin loading, cell division, maintenance of mitotic sister chromatid cohesion, maintenance of mitotic sister chromatid cohesion, 1368 1613 1673 1643 2205 1946 1716 1390 1752 ENSG00000129946 chr19 416583 460996 - SHC2 protein_coding 25759 GO:0005886, GO:0005829, GO:0005575, plasma membrane, cytosol, cellular_component, GO:0030971, GO:0019901, GO:0005515, receptor tyrosine kinase binding, protein kinase binding, protein binding, GO:0048010, GO:0007265, GO:0007169, GO:0000187, GO:0000165, vascular endothelial growth factor receptor signaling pathway, Ras protein signal transduction, transmembrane receptor protein tyrosine kinase signaling pathway, activation of MAPK activity, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000129951 chr19 812488 821977 - PLPPR3 protein_coding The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008]. 79948 GO:0005887, integral component of plasma membrane, GO:0042577, GO:0008195, lipid phosphatase activity, phosphatidate phosphatase activity, GO:0046839, GO:0007165, GO:0006644, phospholipid dephosphorylation, signal transduction, phospholipid metabolic process, 0 3 0 4 3 0 7 2 2 ENSG00000129965 chr11 2132538 2161209 - INS-IGF2 protein_coding This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]. 723961 GO:0005576, extracellular region, GO:0005179, hormone activity, GO:0007165, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000129968 chr19 1876810 1885547 - ABHD17A protein_coding 81926 GO:0099031, GO:0098978, GO:0055038, GO:0043197, GO:0016020, GO:0010008, GO:0010008, GO:0005886, GO:0005886, anchored component of postsynaptic density membrane, glutamatergic synapse, recycling endosome membrane, dendritic spine, membrane, endosome membrane, endosome membrane, plasma membrane, plasma membrane, GO:0008474, GO:0008474, GO:0005515, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, protein binding, GO:1905668, GO:1902817, GO:0099175, GO:0072657, GO:0002084, GO:0002084, GO:0002084, positive regulation of protein localization to endosome, negative regulation of protein localization to microtubule, regulation of postsynapse organization, protein localization to membrane, protein depalmitoylation, protein depalmitoylation, protein depalmitoylation, 1956 1940 2235 1204 1356 1705 1421 1236 1365 ENSG00000129988 chr20 38346356 38377023 + LBP protein_coding The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]. 3929 GO:0070062, GO:0016020, GO:0009986, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, membrane, cell surface, extracellular space, extracellular space, extracellular space, extracellular region, GO:0071723, GO:0070891, GO:0005515, GO:0005102, GO:0001530, GO:0001530, GO:0001530, GO:0001530, lipopeptide binding, lipoteichoic acid binding, protein binding, signaling receptor binding, lipopolysaccharide binding, lipopolysaccharide binding, lipopolysaccharide binding, lipopolysaccharide binding, GO:0090023, GO:0071223, GO:0071222, GO:0071222, GO:0060265, GO:0050830, GO:0050830, GO:0050829, GO:0050829, GO:0050829, GO:0045919, GO:0045087, GO:0045087, GO:0045087, GO:0043032, GO:0043032, GO:0034145, GO:0034142, GO:0033036, GO:0032760, GO:0032760, GO:0032760, GO:0032757, GO:0032755, GO:0032722, GO:0032720, GO:0032496, GO:0032490, GO:0031663, GO:0031663, GO:0019221, GO:0015920, GO:0008228, GO:0008228, GO:0006968, GO:0006953, GO:0006953, GO:0006953, GO:0002281, GO:0002281, GO:0002281, GO:0002232, GO:0002224, positive regulation of neutrophil chemotaxis, cellular response to lipoteichoic acid, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, positive regulation of respiratory burst involved in inflammatory response, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, positive regulation of cytolysis, innate immune response, innate immune response, innate immune response, positive regulation of macrophage activation, positive regulation of macrophage activation, positive regulation of toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, macromolecule localization, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of chemokine production, negative regulation of tumor necrosis factor production, response to lipopolysaccharide, detection of molecule of bacterial origin, lipopolysaccharide-mediated signaling pathway, lipopolysaccharide-mediated signaling pathway, cytokine-mediated signaling pathway, lipopolysaccharide transport, opsonization, opsonization, cellular defense response, acute-phase response, acute-phase response, acute-phase response, macrophage activation involved in immune response, macrophage activation involved in immune response, macrophage activation involved in immune response, leukocyte chemotaxis involved in inflammatory response, toll-like receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000129990 chr19 55171199 55180441 - SYT5 protein_coding Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]. 6861 GO:1990769, GO:0099066, GO:0070382, GO:0055038, GO:0048471, GO:0043025, GO:0031045, GO:0030672, GO:0030424, GO:0005886, proximal neuron projection, integral component of neuronal dense core vesicle membrane, exocytic vesicle, recycling endosome membrane, perinuclear region of cytoplasm, neuronal cell body, dense core granule, synaptic vesicle membrane, axon, plasma membrane, GO:0046982, GO:0030276, GO:0019905, GO:0005546, GO:0005544, GO:0005509, GO:0005509, GO:0001786, GO:0000149, protein heterodimerization activity, clathrin binding, syntaxin binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, calcium ion binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:0071277, GO:0048791, GO:0048488, GO:0017158, GO:0017156, GO:0016192, GO:0014059, GO:0007268, cellular response to calcium ion, calcium ion-regulated exocytosis of neurotransmitter, synaptic vesicle endocytosis, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, chemical synaptic transmission, 0 0 1 0 0 0 0 0 0 ENSG00000129991 chr19 55151767 55157773 - TNNI3 protein_coding Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]. 7137 GO:1990584, GO:0097512, GO:0030017, GO:0005861, GO:0005861, GO:0005829, cardiac Troponin complex, cardiac myofibril, sarcomere, troponin complex, troponin complex, cytosol, GO:0051015, GO:0048306, GO:0046872, GO:0031014, GO:0030172, GO:0019904, GO:0019901, GO:0019855, GO:0005515, GO:0003779, actin filament binding, calcium-dependent protein binding, metal ion binding, troponin T binding, troponin C binding, protein domain specific binding, protein kinase binding, calcium channel inhibitor activity, protein binding, actin binding, GO:0060048, GO:0060048, GO:0060047, GO:0055010, GO:0032780, GO:0032780, GO:0030049, GO:0010882, GO:0007507, GO:0006940, GO:0006936, GO:0006874, GO:0003009, GO:0001980, GO:0001570, cardiac muscle contraction, cardiac muscle contraction, heart contraction, ventricular cardiac muscle tissue morphogenesis, negative regulation of ATPase activity, negative regulation of ATPase activity, muscle filament sliding, regulation of cardiac muscle contraction by calcium ion signaling, heart development, regulation of smooth muscle contraction, muscle contraction, cellular calcium ion homeostasis, skeletal muscle contraction, regulation of systemic arterial blood pressure by ischemic conditions, vasculogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000129993 chr16 88874858 88977204 - CBFA2T3 protein_coding This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]. 863 GO:0005730, GO:0005654, GO:0005634, GO:0000139, nucleolus, nucleoplasm, nucleus, Golgi membrane, GO:0046872, GO:0005515, GO:0003714, GO:0003714, metal ion binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:1903715, GO:0045892, GO:0045892, GO:0045892, GO:0045820, GO:0032436, GO:0030851, GO:0008285, GO:0006351, GO:0001666, regulation of aerobic respiration, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of glycolytic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, granulocyte differentiation, negative regulation of cell population proliferation, transcription, DNA-templated, response to hypoxia, 860 766 796 465 618 566 596 504 508 ENSG00000130005 chr19 1397026 1401570 - GAMT protein_coding The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]. 2593 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0030731, GO:0030731, GO:0008757, GO:0008168, GO:0005515, guanidinoacetate N-methyltransferase activity, guanidinoacetate N-methyltransferase activity, S-adenosylmethionine-dependent methyltransferase activity, methyltransferase activity, protein binding, GO:0040014, GO:0032259, GO:0009887, GO:0007283, GO:0006936, GO:0006601, GO:0006601, GO:0006601, GO:0006600, regulation of multicellular organism growth, methylation, animal organ morphogenesis, spermatogenesis, muscle contraction, creatine biosynthetic process, creatine biosynthetic process, creatine biosynthetic process, creatine metabolic process, 2 2 3 8 0 9 15 3 5 ENSG00000130021 chrX 7048920 7148190 - PUDP protein_coding This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]. 8226 GO:0005829, cytosol, GO:1990738, GO:0046872, GO:0016791, GO:0005515, GO:0003674, pseudouridine 5'-phosphatase activity, metal ion binding, phosphatase activity, protein binding, molecular_function, GO:0043097, GO:0016311, GO:0009117, GO:0008150, pyrimidine nucleoside salvage, dephosphorylation, nucleotide metabolic process, biological_process, 6 15 10 3 17 9 5 11 6 ENSG00000130023 chr6 169751622 169781584 + ERMARD protein_coding The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. 55780 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0003674, molecular_function, GO:0008150, GO:0007275, biological_process, multicellular organism development, 3 0 6 2 0 6 1 2 7 ENSG00000130024 chr6 169703905 169725566 - PHF10 protein_coding This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]. 55274 GO:0071564, GO:0005654, GO:0000785, npBAF complex, nucleoplasm, chromatin, GO:0046872, GO:0042393, GO:0003712, metal ion binding, histone binding, transcription coregulator activity, GO:0045944, GO:0045892, GO:0007399, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, nervous system development, 154 131 250 225 104 304 216 80 202 ENSG00000130032 chrX 151695124 151705924 + PRRG3 protein_coding This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011]. 79057 GO:0016021, GO:0005576, integral component of membrane, extracellular region, GO:0005509, calcium ion binding, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000130035 chr12 4720341 4851927 + GALNT8 protein_coding This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]. 26290 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, O-glycan processing, 0 1 2 0 0 0 1 3 0 ENSG00000130037 chr12 5043989 5046788 + KCNA5 protein_coding Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]. 3741 GO:0048471, GO:0046691, GO:0045121, GO:0034705, GO:0030018, GO:0016021, GO:0014704, GO:0009986, GO:0008076, GO:0008076, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005783, perinuclear region of cytoplasm, intracellular canaliculus, membrane raft, potassium channel complex, Z disc, integral component of membrane, intercalated disc, cell surface, voltage-gated potassium channel complex, voltage-gated potassium channel complex, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, GO:0097110, GO:0086090, GO:0086089, GO:0086087, GO:0051393, GO:0019901, GO:0015271, GO:0015271, GO:0005515, GO:0005251, GO:0005251, GO:0005251, GO:0005249, GO:0005102, scaffold protein binding, voltage-gated potassium channel activity involved in SA node cell action potential repolarization, voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization, alpha-actinin binding, protein kinase binding, outward rectifier potassium channel activity, outward rectifier potassium channel activity, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, signaling receptor binding, GO:2000288, GO:1900087, GO:0098914, GO:0097623, GO:0097623, GO:0086091, GO:0086052, GO:0086052, GO:0086050, GO:0086014, GO:0071805, GO:0071805, GO:0060372, GO:0060081, GO:0055093, GO:0055075, GO:0051481, GO:0051260, GO:0050796, GO:0043266, GO:0042542, GO:0042391, GO:0019229, GO:0010033, GO:0009612, GO:0007219, GO:0006813, GO:0001666, positive regulation of myoblast proliferation, positive regulation of G1/S transition of mitotic cell cycle, membrane repolarization during atrial cardiac muscle cell action potential, potassium ion export across plasma membrane, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, membrane repolarization during SA node cell action potential, membrane repolarization during SA node cell action potential, membrane repolarization during bundle of His cell action potential, atrial cardiac muscle cell action potential, potassium ion transmembrane transport, potassium ion transmembrane transport, regulation of atrial cardiac muscle cell membrane repolarization, membrane hyperpolarization, response to hyperoxia, potassium ion homeostasis, negative regulation of cytosolic calcium ion concentration, protein homooligomerization, regulation of insulin secretion, regulation of potassium ion transport, response to hydrogen peroxide, regulation of membrane potential, regulation of vasoconstriction, response to organic substance, response to mechanical stimulus, Notch signaling pathway, potassium ion transport, response to hypoxia, 0 0 0 0 0 0 0 2 0 ENSG00000130038 chr12 3606633 3764819 - CRACR2A protein_coding 84766 GO:0035580, GO:0016020, GO:0005737, GO:0005576, specific granule lumen, membrane, cytoplasm, extracellular region, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0051928, GO:0043312, GO:0032237, GO:0002250, GO:0002115, positive regulation of calcium ion transport, neutrophil degranulation, activation of store-operated calcium channel activity, adaptive immune response, store-operated calcium entry, 133 154 296 179 195 277 177 137 234 ENSG00000130045 chr9 88534033 88584274 + NXNL2 protein_coding 158046 GO:0045494, GO:0007608, GO:0007601, photoreceptor cell maintenance, sensory perception of smell, visual perception, 0 0 3 0 2 0 0 1 9 ENSG00000130052 chrX 68647666 68725842 + STARD8 protein_coding This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]. 9754 GO:0005925, GO:0005829, focal adhesion, cytosol, GO:0008289, GO:0005096, lipid binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0035023, GO:0030036, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of Rho protein signal transduction, actin cytoskeleton organization, signal transduction, 30 55 56 9 34 4 32 32 12 ENSG00000130054 chrX 69505241 69532508 + FAM155B protein_coding This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011]. 27112 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015275, stretch-activated, cation-selective, calcium channel activity, GO:0098703, calcium ion import across plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000130055 chrX 70423031 70433390 + GDPD2 protein_coding This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]. 54857 GO:0030027, GO:0016021, GO:0005886, GO:0005884, GO:0005737, lamellipodium, integral component of membrane, plasma membrane, actin filament, cytoplasm, GO:0047394, GO:0046872, glycerophosphoinositol inositolphosphodiesterase activity, metal ion binding, GO:0090527, GO:0045669, GO:0006629, actin filament reorganization, positive regulation of osteoblast differentiation, lipid metabolic process, 0 0 1 0 0 0 0 0 0 ENSG00000130066 chrX 23783173 23786226 + SAT1 protein_coding The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]. 6303 GO:0005829, GO:0005829, cytosol, cytosol, GO:0042802, GO:0019809, GO:0008080, GO:0008080, GO:0005515, GO:0004145, GO:0004145, GO:0004145, identical protein binding, spermidine binding, N-acetyltransferase activity, N-acetyltransferase activity, protein binding, diamine N-acetyltransferase activity, diamine N-acetyltransferase activity, diamine N-acetyltransferase activity, GO:0042127, GO:0032918, GO:0032918, GO:0009447, GO:0006596, GO:0006596, GO:0001525, regulation of cell population proliferation, spermidine acetylation, spermidine acetylation, putrescine catabolic process, polyamine biosynthetic process, polyamine biosynthetic process, angiogenesis, 58722 60465 76893 227727 270306 273195 250325 228412 224635 ENSG00000130119 chrX 54530211 54561071 + GNL3L protein_coding The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]. 54552 GO:0016020, GO:0005829, GO:0005730, GO:0005730, GO:0005697, GO:0005654, membrane, cytosol, nucleolus, nucleolus, telomerase holoenzyme complex, nucleoplasm, GO:0005525, GO:0005515, GO:0003723, GTP binding, protein binding, RNA binding, GO:1904816, GO:1904816, GO:0042254, GO:0033234, GO:0032211, GO:0032091, GO:0031647, GO:0031647, GO:0031397, GO:0031334, positive regulation of protein localization to chromosome, telomeric region, positive regulation of protein localization to chromosome, telomeric region, ribosome biogenesis, negative regulation of protein sumoylation, negative regulation of telomere maintenance via telomerase, negative regulation of protein binding, regulation of protein stability, regulation of protein stability, negative regulation of protein ubiquitination, positive regulation of protein-containing complex assembly, 167 200 233 111 172 194 134 128 176 ENSG00000130147 chr2 234951973 235055714 + SH3BP4 protein_coding This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]. 23677 GO:0070062, GO:0030136, GO:0005905, GO:0005737, GO:0005737, GO:0005634, extracellular exosome, clathrin-coated vesicle, clathrin-coated pit, cytoplasm, cytoplasm, nucleus, GO:0042802, GO:0031267, GO:0005515, GO:0005092, identical protein binding, small GTPase binding, protein binding, GDP-dissociation inhibitor activity, GO:0071230, GO:0061462, GO:0050790, GO:0043090, GO:0034260, GO:0032007, GO:0030308, GO:0010508, GO:0008285, GO:0006897, cellular response to amino acid stimulus, protein localization to lysosome, regulation of catalytic activity, amino acid import, negative regulation of GTPase activity, negative regulation of TOR signaling, negative regulation of cell growth, positive regulation of autophagy, negative regulation of cell population proliferation, endocytosis, 2 0 3 5 0 14 0 1 0 ENSG00000130150 chrX 14873441 14922327 + MOSPD2 protein_coding 158747 GO:0140284, GO:0044232, GO:0035579, GO:0016020, GO:0005887, GO:0005886, GO:0005789, GO:0005783, endoplasmic reticulum-endosome membrane contact site, organelle membrane contact site, specific granule membrane, membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0090026, GO:0090023, GO:0043312, GO:0006935, positive regulation of monocyte chemotaxis, positive regulation of neutrophil chemotaxis, neutrophil degranulation, chemotaxis, 2049 1771 2268 719 1368 1056 877 1132 903 ENSG00000130158 chr19 11199295 11262481 - DOCK6 protein_coding This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]. 57572 GO:0048471, GO:0005829, GO:0005829, perinuclear region of cytoplasm, cytosol, cytosol, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0007596, GO:0007264, blood coagulation, small GTPase mediated signal transduction, 16 27 29 21 18 11 15 13 20 ENSG00000130159 chr19 11505916 11529174 - ECSIT protein_coding 51295 GO:0005829, GO:0005743, GO:0005739, GO:0005739, GO:0005737, GO:0005654, GO:0005634, cytosol, mitochondrial inner membrane, mitochondrion, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0061635, GO:0051341, GO:0045087, GO:0032981, regulation of protein complex stability, regulation of oxidoreductase activity, innate immune response, mitochondrial respiratory chain complex I assembly, 9 16 22 53 21 71 22 14 51 ENSG00000130164 chr19 11089362 11133816 + LDLR protein_coding The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]. 3949 GO:1990666, GO:0097443, GO:0045177, GO:0043235, GO:0036477, GO:0036020, GO:0034362, GO:0030669, GO:0016323, GO:0016020, GO:0010008, GO:0009986, GO:0009986, GO:0009897, GO:0005905, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005770, GO:0005769, GO:0005764, PCSK9-LDLR complex, sorting endosome, apical part of cell, receptor complex, somatodendritic compartment, endolysosome membrane, low-density lipoprotein particle, clathrin-coated endocytic vesicle membrane, basolateral plasma membrane, membrane, endosome membrane, cell surface, cell surface, external side of plasma membrane, clathrin-coated pit, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, late endosome, early endosome, lysosome, GO:0042802, GO:0032050, GO:0030229, GO:0030169, GO:0005515, GO:0005509, GO:0005041, GO:0005041, GO:0005041, GO:0005041, GO:0002020, GO:0001618, GO:0001540, identical protein binding, clathrin heavy chain binding, very-low-density lipoprotein particle receptor activity, low-density lipoprotein particle binding, protein binding, calcium ion binding, low-density lipoprotein particle receptor activity, low-density lipoprotein particle receptor activity, low-density lipoprotein particle receptor activity, low-density lipoprotein particle receptor activity, protease binding, virus receptor activity, amyloid-beta binding, GO:1905907, GO:1905167, GO:1903979, GO:0150094, GO:0097242, GO:0090181, GO:0090118, GO:0071404, GO:0071398, GO:0070508, GO:0070508, GO:0061889, GO:0061771, GO:0061024, GO:0051248, GO:0051246, GO:0050729, GO:0048844, GO:0046718, GO:0042632, GO:0042632, GO:0042632, GO:0042159, GO:0034384, GO:0034383, GO:0034383, GO:0034382, GO:0034381, GO:0034381, GO:0030301, GO:0030301, GO:0030299, GO:0015914, GO:0010899, GO:0010867, GO:0010629, GO:0010628, GO:0008203, GO:0007616, GO:0006909, GO:0006898, GO:0006898, GO:0006897, GO:0006629, negative regulation of amyloid fibril formation, positive regulation of lysosomal protein catabolic process, negative regulation of microglial cell activation, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance, regulation of cholesterol metabolic process, receptor-mediated endocytosis involved in cholesterol transport, cellular response to low-density lipoprotein particle stimulus, cellular response to fatty acid, cholesterol import, cholesterol import, negative regulation of astrocyte activation, response to caloric restriction, membrane organization, negative regulation of protein metabolic process, regulation of protein metabolic process, positive regulation of inflammatory response, artery morphogenesis, viral entry into host cell, cholesterol homeostasis, cholesterol homeostasis, cholesterol homeostasis, lipoprotein catabolic process, high-density lipoprotein particle clearance, low-density lipoprotein particle clearance, low-density lipoprotein particle clearance, chylomicron remnant clearance, plasma lipoprotein particle clearance, plasma lipoprotein particle clearance, cholesterol transport, cholesterol transport, intestinal cholesterol absorption, phospholipid transport, regulation of phosphatidylcholine catabolic process, positive regulation of triglyceride biosynthetic process, negative regulation of gene expression, positive regulation of gene expression, cholesterol metabolic process, long-term memory, phagocytosis, receptor-mediated endocytosis, receptor-mediated endocytosis, endocytosis, lipid metabolic process, 60 144 300 120 106 201 130 92 135 ENSG00000130165 chr19 11551147 11559236 - ELOF1 protein_coding 84337 GO:0008023, transcription elongation factor complex, GO:0046872, GO:0005515, GO:0000993, metal ion binding, protein binding, RNA polymerase II complex binding, GO:0048096, GO:0006368, chromatin-mediated maintenance of transcription, transcription elongation from RNA polymerase II promoter, 109 88 118 76 145 88 90 98 91 ENSG00000130167 chr19 11296139 11326996 + TSPAN16 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 26526 GO:0016021, GO:0005887, integral component of membrane, integral component of plasma membrane, 469 358 853 133 304 413 233 220 361 ENSG00000130173 chr19 11237450 11241943 + ANGPTL8 protein_coding 55908 GO:0005576, GO:0005576, GO:0005576, extracellular region, extracellular region, extracellular region, GO:0005515, GO:0005179, protein binding, hormone activity, GO:0070328, GO:0070328, GO:0070328, GO:0051004, GO:0050746, GO:0048469, GO:0045444, GO:0044342, GO:0044255, GO:0019216, GO:0019216, GO:0010954, GO:0007165, triglyceride homeostasis, triglyceride homeostasis, triglyceride homeostasis, regulation of lipoprotein lipase activity, regulation of lipoprotein metabolic process, cell maturation, fat cell differentiation, type B pancreatic cell proliferation, cellular lipid metabolic process, regulation of lipid metabolic process, regulation of lipid metabolic process, positive regulation of protein processing, signal transduction, 1 3 5 1 0 2 0 0 4 ENSG00000130175 chr19 11435288 11450968 + PRKCSH protein_coding This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 5589 GO:0043231, GO:0017177, GO:0017177, GO:0005788, GO:0005783, intracellular membrane-bounded organelle, glucosidase II complex, glucosidase II complex, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0051219, GO:0044325, GO:0005515, GO:0005509, GO:0005080, phosphoprotein binding, ion channel binding, protein binding, calcium ion binding, protein kinase C binding, GO:0044267, GO:0043687, GO:0035556, GO:0006491, GO:0006491, GO:0006457, GO:0001889, cellular protein metabolic process, post-translational protein modification, intracellular signal transduction, N-glycan processing, N-glycan processing, protein folding, liver development, 1518 2004 2207 950 1332 1266 1014 1212 1143 ENSG00000130176 chr19 11538717 11550323 + CNN1 protein_coding 1264 GO:0005925, GO:0005856, focal adhesion, cytoskeleton, GO:0005516, GO:0005515, GO:0003779, calmodulin binding, protein binding, actin binding, GO:1904706, GO:0031032, GO:0006940, negative regulation of vascular associated smooth muscle cell proliferation, actomyosin structure organization, regulation of smooth muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000130177 chr13 114234887 114272723 + CDC16 protein_coding The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]. 8881 GO:0005876, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005680, GO:0005680, GO:0005654, spindle microtubule, cytosol, centrosome, cytoplasm, cytoplasm, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, GO:0005515, protein binding, GO:1901990, GO:0070979, GO:0051301, GO:0045842, GO:0031145, GO:0031145, GO:0016567, GO:0007091, GO:0006511, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, cell division, positive regulation of mitotic metaphase/anaphase transition, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, protein ubiquitination, metaphase/anaphase transition of mitotic cell cycle, ubiquitin-dependent protein catabolic process, 55 64 127 116 82 201 137 56 171 ENSG00000130182 chr16 3088890 3099317 - ZSCAN10 protein_coding 84891 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0000981, GO:0000978, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0035019, GO:0006357, negative regulation of transcription, DNA-templated, somatic stem cell population maintenance, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 1 2 ENSG00000130193 chr8 142727203 142736927 + THEM6 protein_coding 51337 GO:0005576, extracellular region, 4 2 3 20 14 3 11 14 19 ENSG00000130202 chr19 44846175 44889228 + NECTIN2 protein_coding This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 5819 GO:0070062, GO:0044291, GO:0043296, GO:0016021, GO:0016021, GO:0009986, GO:0005925, GO:0005915, GO:0005911, GO:0005886, GO:0005886, extracellular exosome, cell-cell contact zone, apical junction complex, integral component of membrane, integral component of membrane, cell surface, focal adhesion, zonula adherens, cell-cell junction, plasma membrane, plasma membrane, GO:0050839, GO:0050839, GO:0042803, GO:0042802, GO:0015026, GO:0005515, GO:0001618, cell adhesion molecule binding, cell adhesion molecule binding, protein homodimerization activity, identical protein binding, coreceptor activity, protein binding, virus receptor activity, GO:0060370, GO:0060370, GO:0051654, GO:0050862, GO:0050862, GO:0050776, GO:0046814, GO:0046814, GO:0046596, GO:0046596, GO:0045954, GO:0044782, GO:0044406, GO:0042271, GO:0042271, GO:0034332, GO:0033005, GO:0033005, GO:0032990, GO:0030382, GO:0019064, GO:0019064, GO:0009566, GO:0007289, GO:0007286, GO:0007156, GO:0007156, GO:0007010, GO:0002891, GO:0002891, GO:0002860, GO:0002860, GO:0001675, susceptibility to T cell mediated cytotoxicity, susceptibility to T cell mediated cytotoxicity, establishment of mitochondrion localization, positive regulation of T cell receptor signaling pathway, positive regulation of T cell receptor signaling pathway, regulation of immune response, coreceptor-mediated virion attachment to host cell, coreceptor-mediated virion attachment to host cell, regulation of viral entry into host cell, regulation of viral entry into host cell, positive regulation of natural killer cell mediated cytotoxicity, cilium organization, adhesion of symbiont to host, susceptibility to natural killer cell mediated cytotoxicity, susceptibility to natural killer cell mediated cytotoxicity, adherens junction organization, positive regulation of mast cell activation, positive regulation of mast cell activation, cell part morphogenesis, sperm mitochondrion organization, fusion of virus membrane with host plasma membrane, fusion of virus membrane with host plasma membrane, fertilization, spermatid nucleus differentiation, spermatid development, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cytoskeleton organization, positive regulation of immunoglobulin mediated immune response, positive regulation of immunoglobulin mediated immune response, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, acrosome assembly, 266 113 237 140 58 149 123 48 63 ENSG00000130203 chr19 44905754 44909393 + APOE protein_coding The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]. 348 GO:1990777, GO:1903561, GO:0098978, GO:0072562, GO:0071682, GO:0070062, GO:0062023, GO:0043083, GO:0043025, GO:0042627, GO:0034365, GO:0034364, GO:0034363, GO:0034363, GO:0034362, GO:0034361, GO:0031012, GO:0030669, GO:0030425, GO:0016020, GO:0005886, GO:0005794, GO:0005788, GO:0005783, GO:0005769, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, lipoprotein particle, extracellular vesicle, glutamatergic synapse, blood microparticle, endocytic vesicle lumen, extracellular exosome, collagen-containing extracellular matrix, synaptic cleft, neuronal cell body, chylomicron, discoidal high-density lipoprotein particle, high-density lipoprotein particle, intermediate-density lipoprotein particle, intermediate-density lipoprotein particle, low-density lipoprotein particle, very-low-density lipoprotein particle, extracellular matrix, clathrin-coated endocytic vesicle membrane, dendrite, membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum lumen, endoplasmic reticulum, early endosome, cytoplasm, cytoplasm, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0120020, GO:0071813, GO:0070326, GO:0070326, GO:0070326, GO:0060228, GO:0050750, GO:0050750, GO:0050750, GO:0050750, GO:0048156, GO:0046983, GO:0046911, GO:0044877, GO:0043395, GO:0042803, GO:0042803, GO:0042802, GO:0016209, GO:0008289, GO:0008201, GO:0005543, GO:0005515, GO:0005319, GO:0005198, GO:0005102, GO:0001540, GO:0001540, GO:0001540, cholesterol transfer activity, lipoprotein particle binding, very-low-density lipoprotein particle receptor binding, very-low-density lipoprotein particle receptor binding, very-low-density lipoprotein particle receptor binding, phosphatidylcholine-sterol O-acyltransferase activator activity, low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, tau protein binding, protein dimerization activity, metal chelating activity, protein-containing complex binding, heparan sulfate proteoglycan binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, antioxidant activity, lipid binding, heparin binding, phospholipid binding, protein binding, lipid transporter activity, structural molecule activity, signaling receptor binding, amyloid-beta binding, amyloid-beta binding, amyloid-beta binding, GO:2000822, GO:1905908, GO:1905907, GO:1905906, GO:1905890, GO:1905860, GO:1905855, GO:1903002, GO:1902995, GO:1902991, GO:1902952, GO:1902430, GO:1900272, GO:1900223, GO:1900221, GO:1900221, GO:0120009, GO:0098869, GO:0097114, GO:0097113, GO:0090209, GO:0090181, GO:0090090, GO:0090090, GO:0090090, GO:0071831, GO:0071830, GO:0070374, GO:0070328, GO:0061771, GO:0061136, GO:0060999, GO:0055089, GO:0051651, GO:0051246, GO:0051044, GO:0051044, GO:0051000, GO:0051000, GO:0050728, GO:0050709, GO:0048844, GO:0048168, GO:0046907, GO:0046889, GO:0045893, GO:0045807, GO:0045541, GO:0045088, GO:0044794, GO:0044267, GO:0043691, GO:0043687, GO:0043537, GO:0043524, GO:0043407, GO:0043254, GO:0042982, GO:0042632, GO:0042632, GO:0042311, GO:0042159, GO:0042158, GO:0035641, GO:0034447, GO:0034447, GO:0034384, GO:0034382, GO:0034382, GO:0034382, GO:0034380, GO:0034378, GO:0034375, GO:0034375, GO:0034374, GO:0034372, GO:0034372, GO:0034371, GO:0033700, GO:0033344, GO:0032805, GO:0032489, GO:0032269, GO:0031175, GO:0030516, GO:0030195, GO:0019934, GO:0019068, GO:0017038, GO:0015909, GO:0010977, GO:0010976, GO:0010976, GO:0010877, GO:0010875, GO:0010875, GO:0010873, GO:0010629, GO:0010596, GO:0010544, GO:0008203, GO:0008203, GO:0007616, GO:0007271, GO:0007263, GO:0007186, GO:0007010, GO:0006898, GO:0006898, GO:0006874, GO:0006707, GO:0006641, GO:0006641, GO:0006357, GO:0002021, GO:0001937, GO:0001523, GO:0000302, regulation of behavioral fear response, positive regulation of amyloid fibril formation, negative regulation of amyloid fibril formation, regulation of amyloid fibril formation, regulation of cellular response to very-low-density lipoprotein particle stimulus, positive regulation of heparan sulfate proteoglycan binding, positive regulation of heparan sulfate binding, positive regulation of lipid transport across blood-brain barrier, positive regulation of phospholipid efflux, regulation of amyloid precursor protein catabolic process, positive regulation of dendritic spine maintenance, negative regulation of amyloid-beta formation, negative regulation of long-term synaptic potentiation, positive regulation of amyloid-beta clearance, regulation of amyloid-beta clearance, regulation of amyloid-beta clearance, intermembrane lipid transfer, cellular oxidant detoxification, NMDA glutamate receptor clustering, AMPA glutamate receptor clustering, negative regulation of triglyceride metabolic process, regulation of cholesterol metabolic process, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, intermediate-density lipoprotein particle clearance, triglyceride-rich lipoprotein particle clearance, positive regulation of ERK1 and ERK2 cascade, triglyceride homeostasis, response to caloric restriction, regulation of proteasomal protein catabolic process, positive regulation of dendritic spine development, fatty acid homeostasis, maintenance of location in cell, regulation of protein metabolic process, positive regulation of membrane protein ectodomain proteolysis, positive regulation of membrane protein ectodomain proteolysis, positive regulation of nitric-oxide synthase activity, positive regulation of nitric-oxide synthase activity, negative regulation of inflammatory response, negative regulation of protein secretion, artery morphogenesis, regulation of neuronal synaptic plasticity, intracellular transport, positive regulation of lipid biosynthetic process, positive regulation of transcription, DNA-templated, positive regulation of endocytosis, negative regulation of cholesterol biosynthetic process, regulation of innate immune response, positive regulation by host of viral process, cellular protein metabolic process, reverse cholesterol transport, post-translational protein modification, negative regulation of blood vessel endothelial cell migration, negative regulation of neuron apoptotic process, negative regulation of MAP kinase activity, regulation of protein-containing complex assembly, amyloid precursor protein metabolic process, cholesterol homeostasis, cholesterol homeostasis, vasodilation, lipoprotein catabolic process, lipoprotein biosynthetic process, locomotory exploration behavior, very-low-density lipoprotein particle clearance, very-low-density lipoprotein particle clearance, high-density lipoprotein particle clearance, chylomicron remnant clearance, chylomicron remnant clearance, chylomicron remnant clearance, high-density lipoprotein particle assembly, chylomicron assembly, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, chylomicron remodeling, phospholipid efflux, cholesterol efflux, positive regulation of low-density lipoprotein particle receptor catabolic process, regulation of Cdc42 protein signal transduction, negative regulation of cellular protein metabolic process, neuron projection development, regulation of axon extension, negative regulation of blood coagulation, cGMP-mediated signaling, virion assembly, protein import, long-chain fatty acid transport, negative regulation of neuron projection development, positive regulation of neuron projection development, positive regulation of neuron projection development, lipid transport involved in lipid storage, positive regulation of cholesterol efflux, positive regulation of cholesterol efflux, positive regulation of cholesterol esterification, negative regulation of gene expression, negative regulation of endothelial cell migration, negative regulation of platelet activation, cholesterol metabolic process, cholesterol metabolic process, long-term memory, synaptic transmission, cholinergic, nitric oxide mediated signal transduction, G protein-coupled receptor signaling pathway, cytoskeleton organization, receptor-mediated endocytosis, receptor-mediated endocytosis, cellular calcium ion homeostasis, cholesterol catabolic process, triglyceride metabolic process, triglyceride metabolic process, regulation of transcription by RNA polymerase II, response to dietary excess, negative regulation of endothelial cell proliferation, retinoid metabolic process, response to reactive oxygen species, 1 0 0 8 1 5 5 0 0 ENSG00000130204 chr19 44890569 44903689 + TOMM40 protein_coding The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]. 10452 GO:0046930, GO:0044233, GO:0031307, GO:0016021, GO:0005829, GO:0005743, GO:0005742, GO:0005742, GO:0005741, GO:0005739, GO:0005739, pore complex, mitochondria-associated endoplasmic reticulum membrane, integral component of mitochondrial outer membrane, integral component of membrane, cytosol, mitochondrial inner membrane, mitochondrial outer membrane translocase complex, mitochondrial outer membrane translocase complex, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0015288, GO:0008320, GO:0008320, GO:0008320, GO:0005515, porin activity, protein transmembrane transporter activity, protein transmembrane transporter activity, protein transmembrane transporter activity, protein binding, GO:0030150, GO:0016236, GO:0006811, GO:0006626, GO:0006626, GO:0006626, protein import into mitochondrial matrix, macroautophagy, ion transport, protein targeting to mitochondrion, protein targeting to mitochondrion, protein targeting to mitochondrion, 19 5 28 35 16 55 18 16 43 ENSG00000130208 chr19 44914247 44919349 + APOC1 protein_coding This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 341 GO:0042627, GO:0034364, GO:0034364, GO:0034361, GO:0034361, GO:0005783, GO:0005576, chylomicron, high-density lipoprotein particle, high-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, endoplasmic reticulum, extracellular region, GO:0060228, GO:0055102, GO:0031210, GO:0005515, GO:0005504, GO:0005504, GO:0004859, GO:0004859, phosphatidylcholine-sterol O-acyltransferase activator activity, lipase inhibitor activity, phosphatidylcholine binding, protein binding, fatty acid binding, fatty acid binding, phospholipase inhibitor activity, phospholipase inhibitor activity, GO:0051005, GO:0051005, GO:0050995, GO:0050995, GO:0048261, GO:0045833, GO:0045717, GO:0043085, GO:0042157, GO:0034447, GO:0034447, GO:0034447, GO:0034382, GO:0034379, GO:0034375, GO:0034369, GO:0033700, GO:0033344, GO:0032375, GO:0032375, GO:0032374, GO:0010916, GO:0010916, GO:0010900, GO:0010873, GO:0008203, GO:0006641, GO:0006629, negative regulation of lipoprotein lipase activity, negative regulation of lipoprotein lipase activity, negative regulation of lipid catabolic process, negative regulation of lipid catabolic process, negative regulation of receptor-mediated endocytosis, negative regulation of lipid metabolic process, negative regulation of fatty acid biosynthetic process, positive regulation of catalytic activity, lipoprotein metabolic process, very-low-density lipoprotein particle clearance, very-low-density lipoprotein particle clearance, very-low-density lipoprotein particle clearance, chylomicron remnant clearance, very-low-density lipoprotein particle assembly, high-density lipoprotein particle remodeling, plasma lipoprotein particle remodeling, phospholipid efflux, cholesterol efflux, negative regulation of cholesterol transport, negative regulation of cholesterol transport, regulation of cholesterol transport, negative regulation of very-low-density lipoprotein particle clearance, negative regulation of very-low-density lipoprotein particle clearance, negative regulation of phosphatidylcholine catabolic process, positive regulation of cholesterol esterification, cholesterol metabolic process, triglyceride metabolic process, lipid metabolic process, 0 0 1 0 0 0 0 0 0 ENSG00000130222 chr9 89605013 89606555 + GADD45G protein_coding This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]. 10912 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:1900745, GO:0120162, GO:0051726, GO:0046330, GO:0043065, GO:0030154, GO:0007275, GO:0006915, GO:0000185, GO:0000185, positive regulation of p38MAPK cascade, positive regulation of cold-induced thermogenesis, regulation of cell cycle, positive regulation of JNK cascade, positive regulation of apoptotic process, cell differentiation, multicellular organism development, apoptotic process, activation of MAPKKK activity, activation of MAPKKK activity, 49 38 59 252 531 283 114 333 162 ENSG00000130224 chrX 115110616 115234072 - LRCH2 protein_coding This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 57631 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000130226 chr7 153887097 154894285 + DPP6 protein_coding This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 1804 GO:0016021, GO:0008076, GO:0005886, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, GO:0015459, GO:0015459, GO:0008239, GO:0008236, potassium channel regulator activity, potassium channel regulator activity, dipeptidyl-peptidase activity, serine-type peptidase activity, GO:1901379, GO:1901379, GO:0072659, GO:0006508, regulation of potassium ion transmembrane transport, regulation of potassium ion transmembrane transport, protein localization to plasma membrane, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000130227 chr8 21919671 22006585 + XPO7 protein_coding The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]. 23039 GO:0005737, GO:0005737, GO:0005643, GO:0005643, GO:0005634, cytoplasm, cytoplasm, nuclear pore, nuclear pore, nucleus, GO:0031267, GO:0005515, GO:0005049, GO:0005049, small GTPase binding, protein binding, nuclear export signal receptor activity, nuclear export signal receptor activity, GO:0006611, GO:0006611, protein export from nucleus, protein export from nucleus, 336 437 415 317 468 372 336 314 354 ENSG00000130234 chrX 15561033 15602148 - ACE2 protein_coding The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. ACE2 is known to be expressed in various human organs, and its organ- and cell-specific expression suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2, the latter is the causative agent of coronavirus disease-2019 (COVID-19). Multiple splice variants have been found for this gene and the dACE2 (or MIRb-ACE2) splice variant has been found to be interferon inducible. [provided by RefSeq, Nov 2020]. 59272 GO:0070062, GO:0045121, GO:0031526, GO:0016324, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, membrane raft, brush border membrane, apical plasma membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0008270, GO:0008241, GO:0008237, GO:0008237, GO:0005515, GO:0004181, GO:0004180, GO:0004175, GO:0001618, GO:0001618, zinc ion binding, peptidyl-dipeptidase activity, metallopeptidase activity, metallopeptidase activity, protein binding, metallocarboxypeptidase activity, carboxypeptidase activity, endopeptidase activity, virus receptor activity, virus receptor activity, GO:2000379, GO:1905737, GO:1903779, GO:1903598, GO:0097746, GO:0060452, GO:0051957, GO:0050727, GO:0046813, GO:0046718, GO:0046718, GO:0042127, GO:0022898, GO:0019229, GO:0015827, GO:0003081, GO:0003081, GO:0003051, GO:0002003, GO:0002003, GO:0001817, positive regulation of reactive oxygen species metabolic process, positive regulation of L-proline import across plasma membrane, regulation of cardiac conduction, positive regulation of gap junction assembly, blood vessel diameter maintenance, positive regulation of cardiac muscle contraction, positive regulation of amino acid transport, regulation of inflammatory response, receptor-mediated virion attachment to host cell, viral entry into host cell, viral entry into host cell, regulation of cell population proliferation, regulation of transmembrane transporter activity, regulation of vasoconstriction, tryptophan transport, regulation of systemic arterial blood pressure by renin-angiotensin, regulation of systemic arterial blood pressure by renin-angiotensin, angiotensin-mediated drinking behavior, angiotensin maturation, angiotensin maturation, regulation of cytokine production, 0 0 0 0 3 0 4 0 4 ENSG00000130244 chr19 38403135 38409088 + FAM98C protein_coding 147965 GO:0072669, tRNA-splicing ligase complex, GO:0005515, protein binding, 243 156 210 187 170 130 186 147 149 ENSG00000130254 chr19 5586999 5624046 - SAFB2 protein_coding The protein encoded by this gene, along with its paralog (scaffold attachment factor B1), is a repressor of estrogen receptor alpha. The encoded protein binds scaffold/matrix attachment region (S/MAR) DNA and is involved in cell cycle regulation, apoptosis, differentiation, the stress response, and regulation of immune genes. [provided by RefSeq, May 2016]. 9667 GO:0070062, GO:0043231, GO:0016604, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, intracellular membrane-bounded organelle, nuclear body, cytoplasm, nucleoplasm, nucleus, GO:0043565, GO:0042802, GO:0005515, GO:0003723, sequence-specific DNA binding, identical protein binding, protein binding, RNA binding, GO:0060765, GO:0060008, GO:0050684, GO:0006357, regulation of androgen receptor signaling pathway, Sertoli cell differentiation, regulation of mRNA processing, regulation of transcription by RNA polymerase II, 1172 1258 1473 929 1170 980 935 941 819 ENSG00000130255 chr19 5674947 5691876 + RPL36 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 25873 GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005730, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, cytoplasm, nucleolus, nucleolus, GO:0003735, GO:0003735, GO:0003723, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 278 188 343 743 362 871 527 376 687 ENSG00000130270 chr19 1782075 1812276 - ATP8B3 protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 148229 GO:0016021, GO:0005886, GO:0005802, GO:0005789, GO:0002080, integral component of membrane, plasma membrane, trans-Golgi network, endoplasmic reticulum membrane, acrosomal membrane, GO:0140326, GO:0005524, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATP binding, magnesium ion binding, GO:0045332, GO:0007339, GO:0007030, phospholipid translocation, binding of sperm to zona pellucida, Golgi organization, 25 33 28 46 39 52 36 31 45 ENSG00000130283 chr19 18868545 18896096 - GDF1 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]. 2657 GO:0005615, extracellular space, GO:0008083, GO:0005125, growth factor activity, cytokine activity, GO:0060395, GO:0030509, GO:0010862, SMAD protein signal transduction, BMP signaling pathway, positive regulation of pathway-restricted SMAD protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000130287 chr19 19211973 19252233 + NCAN protein_coding Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002]. 1463 GO:0043202, GO:0031012, GO:0005796, GO:0005576, lysosomal lumen, extracellular matrix, Golgi lumen, extracellular region, GO:0030246, GO:0005540, GO:0005509, carbohydrate binding, hyaluronic acid binding, calcium ion binding, GO:0030208, GO:0030207, GO:0030206, GO:0030198, GO:0007417, GO:0007155, GO:0001501, dermatan sulfate biosynthetic process, chondroitin sulfate catabolic process, chondroitin sulfate biosynthetic process, extracellular matrix organization, central nervous system development, cell adhesion, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000130294 chr2 240713761 240821036 - KIF1A protein_coding The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]. 547 GO:1904115, GO:0098992, GO:0098794, GO:0098674, GO:0043025, GO:0030425, GO:0030424, GO:0008021, GO:0005874, GO:0005871, GO:0005829, axon cytoplasm, neuronal dense core vesicle, postsynapse, extrinsic component of neuronal dense core vesicle membrane, neuronal cell body, dendrite, axon, synaptic vesicle, microtubule, kinesin complex, cytosol, GO:0042802, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003774, identical protein binding, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, motor activity, GO:1990049, GO:1990048, GO:0099519, GO:0098840, GO:0061001, GO:0060998, GO:0030705, GO:0022027, GO:0016192, GO:0008089, GO:0007018, retrograde neuronal dense core vesicle transport, anterograde neuronal dense core vesicle transport, dense core granule cytoskeletal transport, protein transport along microtubule, regulation of dendritic spine morphogenesis, regulation of dendritic spine development, cytoskeleton-dependent intracellular transport, interkinetic nuclear migration, vesicle-mediated transport, anterograde axonal transport, microtubule-based movement, 0 0 0 2 0 0 0 0 0 ENSG00000130299 chr19 17334920 17342735 + GTPBP3 protein_coding This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]. 84705 GO:0005739, GO:0005739, GO:0005737, mitochondrion, mitochondrion, cytoplasm, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0030488, GO:0002098, tRNA methylation, tRNA wobble uridine modification, 9 7 17 29 7 23 31 11 22 ENSG00000130300 chr19 17351448 17377350 - PLVAP protein_coding 83483 GO:0070062, GO:0048471, GO:0016021, GO:0009986, GO:0005901, GO:0005901, extracellular exosome, perinuclear region of cytoplasm, integral component of membrane, cell surface, caveola, caveola, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0070528, GO:0033209, GO:0032502, GO:0002693, GO:0000165, protein kinase C signaling, tumor necrosis factor-mediated signaling pathway, developmental process, positive regulation of cellular extravasation, MAPK cascade, 0 2 3 0 6 0 4 2 6 ENSG00000130303 chr19 17402939 17405648 - BST2 protein_coding Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]. 684 GO:0070062, GO:0045121, GO:0035577, GO:0031225, GO:0016324, GO:0016021, GO:0016020, GO:0009986, GO:0009986, GO:0009986, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005794, GO:0005771, GO:0005737, extracellular exosome, membrane raft, azurophil granule membrane, anchored component of membrane, apical plasma membrane, integral component of membrane, membrane, cell surface, cell surface, cell surface, plasma membrane, plasma membrane, cytosol, Golgi apparatus, Golgi apparatus, multivesicular body, cytoplasm, GO:0042803, GO:0042802, GO:0008191, GO:0008191, GO:0005515, GO:0003723, protein homodimerization activity, identical protein binding, metalloendopeptidase inhibitor activity, metalloendopeptidase inhibitor activity, protein binding, RNA binding, GO:1901253, GO:0070665, GO:0060337, GO:0051607, GO:0051607, GO:0045087, GO:0045087, GO:0045071, GO:0043312, GO:0043123, GO:0042113, GO:0035456, GO:0035455, GO:0034341, GO:0032956, GO:0030336, GO:0030308, GO:0010951, GO:0009615, GO:0002737, negative regulation of intracellular transport of viral material, positive regulation of leukocyte proliferation, type I interferon signaling pathway, defense response to virus, defense response to virus, innate immune response, innate immune response, negative regulation of viral genome replication, neutrophil degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, B cell activation, response to interferon-beta, response to interferon-alpha, response to interferon-gamma, regulation of actin cytoskeleton organization, negative regulation of cell migration, negative regulation of cell growth, negative regulation of endopeptidase activity, response to virus, negative regulation of plasmacytoid dendritic cell cytokine production, 178 238 423 155 187 299 162 190 229 ENSG00000130304 chr19 17468769 17506168 + SLC27A1 protein_coding 376497 GO:0016020, GO:0009925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005783, GO:0005743, membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, mitochondrial inner membrane, GO:0090434, GO:0047676, GO:0031957, GO:0015562, GO:0015562, GO:0015245, GO:0015225, GO:0005515, GO:0005324, GO:0005324, GO:0005324, GO:0004467, GO:0004467, GO:0000166, oleoyl-CoA ligase activity, arachidonate-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, efflux transmembrane transporter activity, efflux transmembrane transporter activity, fatty acid transmembrane transporter activity, biotin transmembrane transporter activity, protein binding, long-chain fatty acid transporter activity, long-chain fatty acid transporter activity, long-chain fatty acid transporter activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, nucleotide binding, GO:1990379, GO:1905135, GO:0150104, GO:0140115, GO:0140115, GO:0071902, GO:0071072, GO:0071072, GO:0044539, GO:0044539, GO:0044539, GO:0044381, GO:0033211, GO:0032868, GO:0032049, GO:0032049, GO:0031652, GO:0019216, GO:0015911, GO:0015911, GO:0015909, GO:0015909, GO:0015909, GO:0015878, GO:0010867, GO:0009409, GO:0006661, GO:0006661, GO:0006659, GO:0006659, GO:0006656, GO:0006656, GO:0006655, GO:0006654, GO:0006654, GO:0006646, GO:0006646, GO:0001676, GO:0001579, lipid transport across blood-brain barrier, biotin import across plasma membrane, transport across blood-brain barrier, export across plasma membrane, export across plasma membrane, positive regulation of protein serine/threonine kinase activity, negative regulation of phospholipid biosynthetic process, negative regulation of phospholipid biosynthetic process, long-chain fatty acid import into cell, long-chain fatty acid import into cell, long-chain fatty acid import into cell, glucose import in response to insulin stimulus, adiponectin-activated signaling pathway, response to insulin, cardiolipin biosynthetic process, cardiolipin biosynthetic process, positive regulation of heat generation, regulation of lipid metabolic process, long-chain fatty acid import across plasma membrane, long-chain fatty acid import across plasma membrane, long-chain fatty acid transport, long-chain fatty acid transport, long-chain fatty acid transport, biotin transport, positive regulation of triglyceride biosynthetic process, response to cold, phosphatidylinositol biosynthetic process, phosphatidylinositol biosynthetic process, phosphatidylserine biosynthetic process, phosphatidylserine biosynthetic process, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, phosphatidylglycerol biosynthetic process, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, long-chain fatty acid metabolic process, medium-chain fatty acid transport, 5 7 15 15 19 42 24 8 22 ENSG00000130305 chr7 73302517 73308867 - NSUN5 protein_coding This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 55695 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:0009383, GO:0003723, rRNA (cytosine-C5-)-methyltransferase activity, RNA binding, GO:0070475, GO:0070475, GO:0050890, GO:0045727, GO:0031641, GO:0022038, GO:0021987, GO:0014003, GO:0001510, rRNA base methylation, rRNA base methylation, cognition, positive regulation of translation, regulation of myelination, corpus callosum development, cerebral cortex development, oligodendrocyte development, RNA methylation, 101 76 97 80 86 75 141 85 83 ENSG00000130307 chr19 17249176 17282786 - USHBP1 protein_coding 83878 GO:0030165, GO:0005515, PDZ domain binding, protein binding, 0 0 1 1 0 3 0 1 3 ENSG00000130309 chr19 17555594 17583162 + COLGALT1 protein_coding The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]. 79709 GO:0016020, GO:0005788, GO:0005788, membrane, endoplasmic reticulum lumen, endoplasmic reticulum lumen, GO:0050211, GO:0050211, GO:0050211, procollagen galactosyltransferase activity, procollagen galactosyltransferase activity, procollagen galactosyltransferase activity, GO:1904028, positive regulation of collagen fibril organization, 474 529 668 354 443 468 400 354 492 ENSG00000130311 chr19 17309518 17323301 + DDA1 protein_coding 79016 GO:0080008, GO:0080008, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0032436, GO:0000209, post-translational protein modification, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein polyubiquitination, 242 253 329 183 206 264 244 196 266 ENSG00000130312 chr19 17292609 17306843 + MRPL34 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 64981 GO:0005762, GO:0005762, GO:0005761, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0003735, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 45 33 45 22 27 35 38 34 28 ENSG00000130313 chr19 17511629 17521288 + PGLS protein_coding 25796 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0017057, GO:0017057, GO:0017057, GO:0005515, 6-phosphogluconolactonase activity, 6-phosphogluconolactonase activity, 6-phosphogluconolactonase activity, protein binding, GO:0009051, GO:0006098, GO:0006098, GO:0005975, pentose-phosphate shunt, oxidative branch, pentose-phosphate shunt, pentose-phosphate shunt, carbohydrate metabolic process, 330 293 360 186 393 280 237 380 278 ENSG00000130332 chr19 2321517 2328620 - LSM7 protein_coding Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]. 51690 GO:1990904, GO:1990726, GO:0120115, GO:0097526, GO:0071013, GO:0071005, GO:0071004, GO:0046540, GO:0005829, GO:0005689, GO:0005688, GO:0005654, GO:0005634, ribonucleoprotein complex, Lsm1-7-Pat1 complex, Lsm2-8 complex, spliceosomal tri-snRNP complex, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U2-type prespliceosome, U4/U6 x U5 tri-snRNP complex, cytosol, U12-type spliceosomal complex, U6 snRNP, nucleoplasm, nucleus, GO:0017070, GO:0005515, GO:0003723, U6 snRNA binding, protein binding, RNA binding, GO:0043928, GO:0000398, GO:0000398, exonucleolytic catabolism of deadenylated mRNA, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 49 39 56 79 54 92 64 15 58 ENSG00000130338 chr6 158232236 158511828 + TULP4 protein_coding 56995 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 38 33 55 59 9 56 62 14 46 ENSG00000130340 chr6 157700387 157945077 + SNX9 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]. 51429 GO:0070062, GO:0032437, GO:0031410, GO:0031234, GO:0030659, GO:0030136, GO:0005886, GO:0005829, GO:0005829, GO:0005802, GO:0005737, GO:0001726, extracellular exosome, cuticular plate, cytoplasmic vesicle, extrinsic component of cytoplasmic side of plasma membrane, cytoplasmic vesicle membrane, clathrin-coated vesicle, plasma membrane, cytosol, cytosol, trans-Golgi network, cytoplasm, ruffle, GO:0071933, GO:0045296, GO:0042803, GO:0042802, GO:0035091, GO:0031625, GO:0005545, GO:0005515, Arp2/3 complex binding, cadherin binding, protein homodimerization activity, identical protein binding, phosphatidylinositol binding, ubiquitin protein ligase binding, 1-phosphatidylinositol binding, protein binding, GO:0097320, GO:0065003, GO:0061024, GO:0060988, GO:0051044, GO:0045860, GO:0043547, GO:0036089, GO:0030838, GO:0016197, GO:0006898, GO:0006897, GO:0006886, GO:0000281, plasma membrane tubulation, protein-containing complex assembly, membrane organization, lipid tube assembly, positive regulation of membrane protein ectodomain proteolysis, positive regulation of protein kinase activity, positive regulation of GTPase activity, cleavage furrow formation, positive regulation of actin filament polymerization, endosomal transport, receptor-mediated endocytosis, endocytosis, intracellular protein transport, mitotic cytokinesis, 39 24 91 121 41 86 59 19 38 ENSG00000130347 chr6 106571971 106629487 - RTN4IP1 protein_coding This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 84816 GO:0005741, GO:0005739, mitochondrial outer membrane, mitochondrion, GO:0016491, GO:0008270, GO:0005515, oxidoreductase activity, zinc ion binding, protein binding, GO:0055114, GO:0050773, oxidation-reduction process, regulation of dendrite development, 2 2 2 0 3 5 4 2 6 ENSG00000130348 chr6 106629578 106668417 + QRSL1 protein_coding 55278 GO:0030956, GO:0030956, GO:0005739, GO:0005739, glutamyl-tRNA(Gln) amidotransferase complex, glutamyl-tRNA(Gln) amidotransferase complex, mitochondrion, mitochondrion, GO:0050567, GO:0050567, GO:0016787, GO:0005524, GO:0005515, glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity, glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity, hydrolase activity, ATP binding, protein binding, GO:0070681, GO:0070681, GO:0032543, GO:0032543, GO:0031647, glutaminyl-tRNAGln biosynthesis via transamidation, glutaminyl-tRNAGln biosynthesis via transamidation, mitochondrial translation, mitochondrial translation, regulation of protein stability, 16 10 42 37 27 46 22 18 26 ENSG00000130349 chr6 107028213 107051342 + C6orf203 protein_coding 51250 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:1903108, GO:1903108, regulation of mitochondrial transcription, regulation of mitochondrial transcription, 4 6 7 15 10 16 17 10 10 ENSG00000130363 chr6 158972871 159000187 - RSPH3 protein_coding The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]. 83861 GO:0005929, GO:0005856, GO:0005737, cilium, cytoskeleton, cytoplasm, GO:0005515, protein binding, 216 216 178 90 177 110 133 153 86 ENSG00000130368 chr6 159906690 159916530 + MAS1 protein_coding This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]. 4142 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042277, GO:0005515, GO:0004945, GO:0004930, GO:0004930, GO:0001595, GO:0001595, peptide binding, protein binding, angiotensin type II receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, angiotensin receptor activity, angiotensin receptor activity, GO:0070528, GO:0038166, GO:0007186, protein kinase C signaling, angiotensin-activated signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000130377 chr19 6135247 6193094 + ACSBG2 protein_coding 81616 GO:0016020, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, membrane, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, GO:0102391, GO:0047676, GO:0047617, GO:0016405, GO:0005524, GO:0004467, GO:0004467, GO:0003996, decanoate-CoA ligase activity, arachidonate-CoA ligase activity, acyl-CoA hydrolase activity, CoA-ligase activity, ATP binding, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, acyl-CoA ligase activity, GO:0042759, GO:0035338, GO:0030154, GO:0007283, GO:0007275, GO:0006631, long-chain fatty acid biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, cell differentiation, spermatogenesis, multicellular organism development, fatty acid metabolic process, 0 0 0 0 0 0 10 0 0 ENSG00000130382 chr19 6210379 6279948 - MLLT1 protein_coding 4298 GO:0008023, GO:0005829, GO:0005654, GO:0005654, GO:0001650, transcription elongation factor complex, cytosol, nucleoplasm, nucleoplasm, fibrillar center, GO:0005515, protein binding, GO:0006469, GO:0006368, GO:0006366, GO:0006355, negative regulation of protein kinase activity, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1103 1137 1451 746 952 847 845 735 739 ENSG00000130383 chr19 5865826 5870540 - FUT5 protein_coding 2527 GO:0032580, GO:0016021, GO:0005794, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, GO:0046920, GO:0046920, GO:0017083, GO:0017060, GO:0008417, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity, fucosyltransferase activity, GO:0042355, GO:0036065, GO:0009311, GO:0006672, GO:0006486, GO:0006486, GO:0005975, L-fucose catabolic process, fucosylation, oligosaccharide metabolic process, ceramide metabolic process, protein glycosylation, protein glycosylation, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000130385 chrX 50910784 50916607 + BMP15 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016]. 9210 GO:0005788, GO:0005615, endoplasmic reticulum lumen, extracellular space, GO:0070698, GO:0008083, GO:0005125, type I activin receptor binding, growth factor activity, cytokine activity, GO:0060395, GO:0060016, GO:0045893, GO:0044267, GO:0043687, GO:0030509, GO:0010862, GO:0007292, GO:0001541, SMAD protein signal transduction, granulosa cell development, positive regulation of transcription, DNA-templated, cellular protein metabolic process, post-translational protein modification, BMP signaling pathway, positive regulation of pathway-restricted SMAD protein phosphorylation, female gamete generation, ovarian follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000130396 chr6 167826922 167972023 + AFDN protein_coding This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]. 4301 GO:0070160, GO:0046930, GO:0044291, GO:0030054, GO:0016607, GO:0005912, GO:0005911, GO:0005886, GO:0005829, GO:0005829, GO:0005654, tight junction, pore complex, cell-cell contact zone, cell junction, nuclear speck, adherens junction, cell-cell junction, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0051015, GO:0050839, GO:0045296, GO:0031267, GO:0008022, GO:0005515, actin filament binding, cell adhesion molecule binding, cadherin binding, small GTPase binding, protein C-terminus binding, protein binding, GO:2000049, GO:0090557, GO:0070830, GO:0061951, GO:0046931, GO:0044331, GO:0043547, GO:0034332, GO:0032880, GO:0030336, GO:0022409, GO:0010628, GO:0007267, GO:0007165, GO:0007155, positive regulation of cell-cell adhesion mediated by cadherin, establishment of endothelial intestinal barrier, bicellular tight junction assembly, establishment of protein localization to plasma membrane, pore complex assembly, cell-cell adhesion mediated by cadherin, positive regulation of GTPase activity, adherens junction organization, regulation of protein localization, negative regulation of cell migration, positive regulation of cell-cell adhesion, positive regulation of gene expression, cell-cell signaling, signal transduction, cell adhesion, 467 177 786 316 112 400 241 101 419 ENSG00000130402 chr19 38647649 38731583 + ACTN4 protein_coding Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]. 81 GO:1990904, GO:0070062, GO:0048471, GO:0043005, GO:0032991, GO:0031143, GO:0031093, GO:0030863, GO:0030018, GO:0016604, GO:0015629, GO:0005925, GO:0005911, GO:0005903, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0005576, GO:0001725, ribonucleoprotein complex, extracellular exosome, perinuclear region of cytoplasm, neuron projection, protein-containing complex, pseudopodium, platelet alpha granule lumen, cortical cytoskeleton, Z disc, nuclear body, actin cytoskeleton, focal adhesion, cell-cell junction, brush border, cytosol, cytoplasm, cytoplasm, nucleus, extracellular space, extracellular region, stress fiber, GO:0051015, GO:0051015, GO:0047485, GO:0044325, GO:0042974, GO:0042803, GO:0035257, GO:0031490, GO:0030374, GO:0005515, GO:0005509, GO:0005178, GO:0003779, GO:0003723, GO:0003713, GO:0001882, GO:0000977, actin filament binding, actin filament binding, protein N-terminus binding, ion channel binding, retinoic acid receptor binding, protein homodimerization activity, nuclear hormone receptor binding, chromatin DNA binding, nuclear receptor coactivator activity, protein binding, calcium ion binding, integrin binding, actin binding, RNA binding, transcription coactivator activity, nucleoside binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1903508, GO:1903506, GO:1902396, GO:1901224, GO:1900025, GO:0070830, GO:0051272, GO:0051272, GO:0051271, GO:0051017, GO:0048549, GO:0048384, GO:0042981, GO:0035357, GO:0033209, GO:0032417, GO:0030335, GO:0030050, GO:0015031, GO:0002576, GO:0001666, positive regulation of nucleic acid-templated transcription, regulation of nucleic acid-templated transcription, protein localization to bicellular tight junction, positive regulation of NIK/NF-kappaB signaling, negative regulation of substrate adhesion-dependent cell spreading, bicellular tight junction assembly, positive regulation of cellular component movement, positive regulation of cellular component movement, negative regulation of cellular component movement, actin filament bundle assembly, positive regulation of pinocytosis, retinoic acid receptor signaling pathway, regulation of apoptotic process, peroxisome proliferator activated receptor signaling pathway, tumor necrosis factor-mediated signaling pathway, positive regulation of sodium:proton antiporter activity, positive regulation of cell migration, vesicle transport along actin filament, protein transport, platelet degranulation, response to hypoxia, 4309 5123 5495 2097 3167 2914 2446 2763 2691 ENSG00000130413 chr11 8391868 8594289 - STK33 protein_coding 65975 GO:0048471, GO:0005737, GO:0005634, perinuclear region of cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0046777, GO:0044773, GO:0042770, protein autophosphorylation, mitotic DNA damage checkpoint, signal transduction in response to DNA damage, 0 0 2 0 0 3 5 0 1 ENSG00000130414 chr2 239892450 240025402 - NDUFA10 protein_coding The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]. 4705 GO:0005759, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, cytoplasm, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006120, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 265 295 454 354 442 443 318 329 412 ENSG00000130427 chr7 100720800 100723700 + EPO protein_coding This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]. 2056 GO:0044297, GO:0009986, GO:0005615, GO:0005615, GO:0005576, cell body, cell surface, extracellular space, extracellular space, extracellular region, GO:0030295, GO:0005515, GO:0005179, GO:0005128, GO:0005128, GO:0005125, GO:0005125, protein kinase activator activity, protein binding, hormone activity, erythropoietin receptor binding, erythropoietin receptor binding, cytokine activity, cytokine activity, GO:2001258, GO:1902251, GO:1902219, GO:1901215, GO:0071548, GO:0071474, GO:0070555, GO:0070374, GO:0061418, GO:0055093, GO:0051602, GO:0048678, GO:0046579, GO:0046579, GO:0046579, GO:0045893, GO:0043627, GO:0043249, GO:0042541, GO:0042531, GO:0042104, GO:0038162, GO:0038162, GO:0033574, GO:0033189, GO:0032496, GO:0032147, GO:0030218, GO:0030218, GO:0018105, GO:0014068, GO:0010976, GO:0010523, GO:0009651, GO:0008284, GO:0008284, GO:0008015, GO:0007568, GO:0007566, GO:0007165, GO:0006953, GO:0006915, GO:0000122, negative regulation of cation channel activity, negative regulation of erythrocyte apoptotic process, negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress, negative regulation of neuron death, response to dexamethasone, cellular hyperosmotic response, response to interleukin-1, positive regulation of ERK1 and ERK2 cascade, regulation of transcription from RNA polymerase II promoter in response to hypoxia, response to hyperoxia, response to electrical stimulus, response to axon injury, positive regulation of Ras protein signal transduction, positive regulation of Ras protein signal transduction, positive regulation of Ras protein signal transduction, positive regulation of transcription, DNA-templated, response to estrogen, erythrocyte maturation, hemoglobin biosynthetic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of activated T cell proliferation, erythropoietin-mediated signaling pathway, erythropoietin-mediated signaling pathway, response to testosterone, response to vitamin A, response to lipopolysaccharide, activation of protein kinase activity, erythrocyte differentiation, erythrocyte differentiation, peptidyl-serine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, negative regulation of calcium ion transport into cytosol, response to salt stress, positive regulation of cell population proliferation, positive regulation of cell population proliferation, blood circulation, aging, embryo implantation, signal transduction, acute-phase response, apoptotic process, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000130429 chr7 99374249 99394816 + ARPC1B protein_coding This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]. 10095 GO:0070062, GO:0036284, GO:0015629, GO:0005925, GO:0005885, GO:0005885, GO:0005829, GO:0005634, extracellular exosome, tubulobulbar complex, actin cytoskeleton, focal adhesion, Arp2/3 protein complex, Arp2/3 protein complex, cytosol, nucleus, GO:0051015, GO:0005515, GO:0005200, actin filament binding, protein binding, structural constituent of cytoskeleton, GO:0048013, GO:0043627, GO:0038096, GO:0034314, GO:0034314, GO:0032355, ephrin receptor signaling pathway, response to estrogen, Fc-gamma receptor signaling pathway involved in phagocytosis, Arp2/3 complex-mediated actin nucleation, Arp2/3 complex-mediated actin nucleation, response to estradiol, 88 83 103 78 84 82 68 76 67 ENSG00000130433 chr19 53992288 54012669 + CACNG6 protein_coding Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]. 59285 GO:1990454, GO:1990454, GO:0005891, GO:0005886, L-type voltage-gated calcium channel complex, L-type voltage-gated calcium channel complex, voltage-gated calcium channel complex, plasma membrane, GO:0005246, GO:0005246, GO:0005245, calcium channel regulator activity, calcium channel regulator activity, voltage-gated calcium channel activity, GO:1902514, GO:0070588, GO:0061337, GO:0006816, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, calcium ion transmembrane transport, cardiac conduction, calcium ion transport, 21 24 34 2 0 0 5 1 0 ENSG00000130449 chr5 61332273 61546170 + ZSWIM6 protein_coding The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]. 57688 GO:0032420, GO:0031462, stereocilium, Cul2-RING ubiquitin ligase complex, GO:0008270, zinc ion binding, GO:2001222, GO:1902667, GO:0048812, GO:0021773, regulation of neuron migration, regulation of axon guidance, neuron projection morphogenesis, striatal medium spiny neuron differentiation, 934 952 1078 844 1011 961 909 679 836 ENSG00000130475 chr19 17747718 17788568 + FCHO1 protein_coding 23149 GO:0030136, GO:0005905, GO:0005905, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005654, clathrin-coated vesicle, clathrin-coated pit, clathrin-coated pit, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0035612, GO:0008092, GO:0005515, AP-2 adaptor complex binding, cytoskeletal protein binding, protein binding, GO:0072583, GO:0072583, GO:0061024, GO:0048268, GO:0048268, clathrin-dependent endocytosis, clathrin-dependent endocytosis, membrane organization, clathrin coat assembly, clathrin coat assembly, 1001 1262 1151 1056 1565 1221 1100 1216 1069 ENSG00000130477 chr19 17601328 17688365 - UNC13A protein_coding This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]. 23025 GO:0098831, GO:0048786, GO:0044305, GO:0043195, GO:0043005, GO:0042734, GO:0042734, GO:0031594, GO:0030672, GO:0005886, presynaptic active zone cytoplasmic component, presynaptic active zone, calyx of Held, terminal bouton, neuron projection, presynaptic membrane, presynaptic membrane, neuromuscular junction, synaptic vesicle membrane, plasma membrane, GO:0019992, GO:0017075, GO:0017075, GO:0005543, GO:0005516, GO:0005516, GO:0005509, diacylglycerol binding, syntaxin-1 binding, syntaxin-1 binding, phospholipid binding, calmodulin binding, calmodulin binding, calcium ion binding, GO:1903861, GO:1902991, GO:1900451, GO:0099525, GO:0099011, GO:0061789, GO:0060384, GO:0051966, GO:0050435, GO:0048172, GO:0035556, GO:0035249, GO:0031915, GO:0016188, GO:0016082, GO:0016081, GO:0007528, GO:0007269, GO:0001956, positive regulation of dendrite extension, regulation of amyloid precursor protein catabolic process, positive regulation of glutamate receptor signaling pathway, presynaptic dense core vesicle exocytosis, neuronal dense core vesicle exocytosis, dense core granule priming, innervation, regulation of synaptic transmission, glutamatergic, amyloid-beta metabolic process, regulation of short-term neuronal synaptic plasticity, intracellular signal transduction, synaptic transmission, glutamatergic, positive regulation of synaptic plasticity, synaptic vesicle maturation, synaptic vesicle priming, synaptic vesicle docking, neuromuscular junction development, neurotransmitter secretion, positive regulation of neurotransmitter secretion, 0 0 0 1 0 0 0 1 0 ENSG00000130479 chr19 17719242 17734516 + MAP1S protein_coding 55201 GO:0048471, GO:0045202, GO:0045202, GO:0043025, GO:0043025, GO:0042995, GO:0030425, GO:0030425, GO:0005875, GO:0005874, GO:0005874, GO:0005829, GO:0005829, GO:0005819, GO:0005730, GO:0005654, GO:0005634, perinuclear region of cytoplasm, synapse, synapse, neuronal cell body, neuronal cell body, cell projection, dendrite, dendrite, microtubule associated complex, microtubule, microtubule, cytosol, cytosol, spindle, nucleolus, nucleoplasm, nucleus, GO:0051015, GO:0051015, GO:0048487, GO:0042802, GO:0015631, GO:0008017, GO:0008017, GO:0008017, GO:0005515, GO:0004536, GO:0003779, GO:0003677, actin filament binding, actin filament binding, beta-tubulin binding, identical protein binding, tubulin binding, microtubule binding, microtubule binding, microtubule binding, protein binding, deoxyribonuclease activity, actin binding, DNA binding, GO:0048812, GO:0047497, GO:0031114, GO:0016358, GO:0010848, GO:0007420, GO:0007409, GO:0007399, GO:0006915, GO:0006914, GO:0006259, GO:0001578, GO:0000226, neuron projection morphogenesis, mitochondrion transport along microtubule, regulation of microtubule depolymerization, dendrite development, regulation of chromatin disassembly, brain development, axonogenesis, nervous system development, apoptotic process, autophagy, DNA metabolic process, microtubule bundle formation, microtubule cytoskeleton organization, 478 405 432 179 242 188 218 229 210 ENSG00000130487 chr22 50545891 50551023 + KLHDC7B protein_coding 113730 GO:0005515, protein binding, 15 10 30 5 9 12 7 8 4 ENSG00000130489 chr22 50523568 50525606 - SCO2 protein_coding 68 27 67 113 43 50 75 50 48 ENSG00000130508 chr2 1631887 1744852 - PXDN protein_coding This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]. 7837 GO:0070062, GO:0062023, GO:0062023, GO:0005783, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, endoplasmic reticulum, extracellular space, extracellular space, extracellular region, GO:0046872, GO:0020037, GO:0019806, GO:0005201, GO:0005201, GO:0005152, GO:0004601, GO:0004601, metal ion binding, heme binding, bromide peroxidase activity, extracellular matrix structural constituent, extracellular matrix structural constituent, interleukin-1 receptor antagonist activity, peroxidase activity, peroxidase activity, GO:0098869, GO:0070831, GO:0055114, GO:0042744, GO:0030199, GO:0030198, GO:0006979, GO:0006955, GO:0001960, cellular oxidant detoxification, basement membrane assembly, oxidation-reduction process, hydrogen peroxide catabolic process, collagen fibril organization, extracellular matrix organization, response to oxidative stress, immune response, negative regulation of cytokine-mediated signaling pathway, 0 0 0 0 0 14 0 1 0 ENSG00000130511 chr19 18418864 18434562 + SSBP4 protein_coding 170463 GO:0005634, nucleus, GO:0005515, GO:0003697, protein binding, single-stranded DNA binding, GO:0045944, positive regulation of transcription by RNA polymerase II, 80 57 97 166 69 236 124 79 153 ENSG00000130513 chr19 18374731 18389176 + GDF15 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]. 9518 GO:0070062, GO:0062023, GO:0005794, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, Golgi apparatus, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0070700, GO:0042803, GO:0008083, GO:0005515, GO:0005125, BMP receptor binding, protein homodimerization activity, growth factor activity, protein binding, cytokine activity, GO:1901741, GO:0060400, GO:0060395, GO:0060395, GO:0051897, GO:0051897, GO:0043410, GO:0040015, GO:0035860, GO:0030509, GO:0010862, GO:0007267, GO:0007179, GO:0007165, GO:0002023, GO:0000187, positive regulation of myoblast fusion, negative regulation of growth hormone receptor signaling pathway, SMAD protein signal transduction, SMAD protein signal transduction, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of MAPK cascade, negative regulation of multicellular organism growth, glial cell-derived neurotrophic factor receptor signaling pathway, BMP signaling pathway, positive regulation of pathway-restricted SMAD protein phosphorylation, cell-cell signaling, transforming growth factor beta receptor signaling pathway, signal transduction, reduction of food intake in response to dietary excess, activation of MAPK activity, 19 25 21 30 43 47 25 35 52 ENSG00000130517 chr19 18340587 18369950 + PGPEP1 protein_coding The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]. 54858 GO:0005829, cytosol, GO:0016920, pyroglutamyl-peptidase activity, GO:0006508, proteolysis, 176 338 261 228 427 402 303 316 297 ENSG00000130518 chr19 18257097 18274509 - IQCN protein_coding 80726 GO:0005739, GO:0005634, mitochondrion, nucleus, GO:0005515, protein binding, 247 253 144 324 507 309 534 394 315 ENSG00000130520 chr19 18306230 18323274 - LSM4 protein_coding This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 25804 GO:0120115, GO:0097526, GO:0071005, GO:0046540, GO:0043005, GO:0032991, GO:0016020, GO:0005829, GO:0005829, GO:0005688, GO:0005654, GO:0005634, GO:0000932, Lsm2-8 complex, spliceosomal tri-snRNP complex, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, neuron projection, protein-containing complex, membrane, cytosol, cytosol, U6 snRNP, nucleoplasm, nucleus, P-body, GO:0042731, GO:0017070, GO:0005515, GO:0003723, GO:0003723, PH domain binding, U6 snRNA binding, protein binding, RNA binding, RNA binding, GO:0043928, GO:0033962, GO:0008380, GO:0000398, GO:0000398, GO:0000387, exonucleolytic catabolism of deadenylated mRNA, P-body assembly, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, 41 43 82 84 36 122 73 45 74 ENSG00000130522 chr19 18279760 18281622 - JUND protein_coding The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternative translation initiation site usage results in the production of different isoforms (PMID:12105216). [provided by RefSeq, Nov 2013]. 3727 GO:0035976, GO:0032993, GO:0005667, GO:0005654, GO:0005654, GO:0000785, GO:0000785, GO:0000785, transcription factor AP-1 complex, protein-DNA complex, transcription regulator complex, nucleoplasm, nucleoplasm, chromatin, chromatin, chromatin, GO:1990837, GO:0019899, GO:0016922, GO:0008134, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, enzyme binding, nuclear receptor binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071277, GO:0051726, GO:0045944, GO:0045669, GO:0043434, GO:0042127, GO:0032496, GO:0014070, GO:0009612, GO:0009416, GO:0007623, GO:0007568, GO:0006366, GO:0006357, GO:0002076, cellular response to calcium ion, regulation of cell cycle, positive regulation of transcription by RNA polymerase II, positive regulation of osteoblast differentiation, response to peptide hormone, regulation of cell population proliferation, response to lipopolysaccharide, response to organic cyclic compound, response to mechanical stimulus, response to light stimulus, circadian rhythm, aging, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, osteoblast development, 6627 6464 7033 7293 11323 11437 8680 11330 11805 ENSG00000130528 chr19 49151198 49155424 - HRC protein_coding This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]. 3270 GO:0033018, GO:0033017, GO:0030018, GO:0005788, sarcoplasmic reticulum lumen, sarcoplasmic reticulum membrane, Z disc, endoplasmic reticulum lumen, GO:0051117, GO:0044325, GO:0005515, GO:0005509, ATPase binding, ion channel binding, protein binding, calcium ion binding, GO:1903169, GO:1901899, GO:1901844, GO:0060314, GO:0051480, GO:0045823, GO:0044267, GO:0043687, GO:0033135, GO:0010881, GO:0010880, GO:0010460, GO:0006936, GO:0002027, regulation of calcium ion transmembrane transport, positive regulation of relaxation of cardiac muscle, regulation of cell communication by electrical coupling involved in cardiac conduction, regulation of ryanodine-sensitive calcium-release channel activity, regulation of cytosolic calcium ion concentration, positive regulation of heart contraction, cellular protein metabolic process, post-translational protein modification, regulation of peptidyl-serine phosphorylation, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, positive regulation of heart rate, muscle contraction, regulation of heart rate, 0 0 0 0 0 0 0 0 0 ENSG00000130529 chr19 49157741 49211836 + TRPM4 protein_coding The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]. 54795 GO:0089717, GO:0044214, GO:0043025, GO:0034706, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005783, GO:0005654, spanning component of membrane, spanning component of plasma membrane, neuronal cell body, sodium channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, nucleoplasm, GO:0099604, GO:0005524, GO:0005516, GO:0005515, GO:0005509, GO:0005261, GO:0005227, GO:0005227, GO:0005227, ligand-gated calcium channel activity, ATP binding, calmodulin binding, protein binding, calcium ion binding, cation channel activity, calcium activated cation channel activity, calcium activated cation channel activity, calcium activated cation channel activity, GO:1904199, GO:1904179, GO:1903949, GO:0098911, GO:0098719, GO:0098662, GO:0098655, GO:0090263, GO:0086091, GO:0086048, GO:0086047, GO:0086045, GO:0071318, GO:0070838, GO:0070588, GO:0070588, GO:0051289, GO:0045907, GO:0045668, GO:0045600, GO:0042310, GO:0035774, GO:0030502, GO:0019722, GO:0016925, GO:0010460, GO:0008284, GO:0007204, GO:0002724, GO:0002407, GO:0002250, positive regulation of regulation of vascular associated smooth muscle cell membrane depolarization, positive regulation of adipose tissue development, positive regulation of atrial cardiac muscle cell action potential, regulation of ventricular cardiac muscle cell action potential, sodium ion import across plasma membrane, inorganic cation transmembrane transport, cation transmembrane transport, positive regulation of canonical Wnt signaling pathway, regulation of heart rate by cardiac conduction, membrane depolarization during bundle of His cell action potential, membrane depolarization during Purkinje myocyte cell action potential, membrane depolarization during AV node cell action potential, cellular response to ATP, divalent metal ion transport, calcium ion transmembrane transport, calcium ion transmembrane transport, protein homotetramerization, positive regulation of vasoconstriction, negative regulation of osteoblast differentiation, positive regulation of fat cell differentiation, vasoconstriction, positive regulation of insulin secretion involved in cellular response to glucose stimulus, negative regulation of bone mineralization, calcium-mediated signaling, protein sumoylation, positive regulation of heart rate, positive regulation of cell population proliferation, positive regulation of cytosolic calcium ion concentration, regulation of T cell cytokine production, dendritic cell chemotaxis, adaptive immune response, 0 0 0 2 0 0 0 1 5 ENSG00000130538 chr22 15528159 15529139 + OR11H1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81061 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000130540 chr22 43824509 43862503 - SULT4A1 protein_coding This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008]. 25830 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0042802, GO:0008146, GO:0008146, GO:0005515, identical protein binding, sulfotransferase activity, sulfotransferase activity, protein binding, GO:0051923, GO:0050427, GO:0008202, GO:0008150, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, steroid metabolic process, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000130544 chr19 7069444 7087968 + ZNF557 protein_coding 79230 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 67 53 69 97 98 121 108 59 61 ENSG00000130545 chr19 6463777 6467221 + CRB3 protein_coding This gene encodes a member of the Crumbs family of proteins. This gene is widely expressed in epithelial tissues where the encoded protein isoforms play various roles such as the control of cytokinesis and ciliogenesis or the formation of tight junctions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. 92359 GO:0070062, GO:0030054, GO:0016324, GO:0016021, GO:0005923, GO:0005886, extracellular exosome, cell junction, apical plasma membrane, integral component of membrane, bicellular tight junction, plasma membrane, GO:0019904, GO:0017124, GO:0005515, protein domain specific binding, SH3 domain binding, protein binding, GO:1901890, GO:0072659, GO:0070830, positive regulation of cell junction assembly, protein localization to plasma membrane, bicellular tight junction assembly, 2 1 1 5 1 8 0 3 1 ENSG00000130558 chr9 135075422 135121179 + OLFM1 protein_coding This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10439 GO:0045202, GO:0044295, GO:0043204, GO:0043025, GO:0030424, GO:0005783, GO:0005615, synapse, axonal growth cone, perikaryon, neuronal cell body, axon, endoplasmic reticulum, extracellular space, GO:0005515, protein binding, GO:0060317, GO:0043065, GO:0030516, GO:0023041, GO:0010718, GO:0010629, GO:0010628, GO:0007399, GO:0003190, cardiac epithelial to mesenchymal transition, positive regulation of apoptotic process, regulation of axon extension, neuronal signal transduction, positive regulation of epithelial to mesenchymal transition, negative regulation of gene expression, positive regulation of gene expression, nervous system development, atrioventricular valve formation, 0 1 0 0 0 0 0 0 1 ENSG00000130559 chr9 135808487 135907228 - CAMSAP1 protein_coding 157922 GO:0036449, GO:0036449, GO:0005874, GO:0005737, microtubule minus-end, microtubule minus-end, microtubule, cytoplasm, GO:0051011, GO:0051011, GO:0030507, GO:0008017, GO:0005516, microtubule minus-end binding, microtubule minus-end binding, spectrin binding, microtubule binding, calmodulin binding, GO:0031175, GO:0031175, GO:0031122, GO:0031113, GO:0022604, GO:0007026, GO:0007010, GO:0000226, neuron projection development, neuron projection development, cytoplasmic microtubule organization, regulation of microtubule polymerization, regulation of cell morphogenesis, negative regulation of microtubule depolymerization, cytoskeleton organization, microtubule cytoskeleton organization, 61 100 137 95 110 116 72 75 91 ENSG00000130560 chr9 135932969 135961380 - UBAC1 protein_coding 10422 GO:0070062, GO:0005886, GO:0005829, GO:0005794, extracellular exosome, plasma membrane, cytosol, Golgi apparatus, GO:0005515, protein binding, GO:0016567, protein ubiquitination, 265 202 285 132 276 176 167 218 153 ENSG00000130561 chr2 233307816 233347055 + SAG protein_coding Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]. 6295 GO:0016020, GO:0005829, GO:0001917, GO:0001750, GO:0001750, membrane, cytosol, photoreceptor inner segment, photoreceptor outer segment, photoreceptor outer segment, GO:0051219, GO:0005515, GO:0004864, GO:0002046, GO:0001664, phosphoprotein binding, protein binding, protein phosphatase inhibitor activity, opsin binding, G protein-coupled receptor binding, GO:0032515, GO:0022400, GO:0016056, GO:0007166, GO:0002031, negative regulation of phosphoprotein phosphatase activity, regulation of rhodopsin mediated signaling pathway, rhodopsin mediated signaling pathway, cell surface receptor signaling pathway, G protein-coupled receptor internalization, 3 0 2 0 8 5 2 1 0 ENSG00000130584 chr20 63743666 63831244 - ZBTB46 protein_coding 140685 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001200, GO:2001199, GO:0045656, GO:0045650, GO:0030853, GO:0006357, positive regulation of dendritic cell differentiation, negative regulation of dendritic cell differentiation, negative regulation of monocyte differentiation, negative regulation of macrophage differentiation, negative regulation of granulocyte differentiation, regulation of transcription by RNA polymerase II, 34 38 69 29 52 33 41 21 42 ENSG00000130589 chr20 63558086 63574239 - HELZ2 protein_coding The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 85441 GO:0016020, GO:0005737, GO:0005654, membrane, cytoplasm, nucleoplasm, GO:0046872, GO:0030374, GO:0005524, GO:0005515, GO:0004540, GO:0003724, GO:0003723, GO:0003723, GO:0003677, metal ion binding, nuclear receptor coactivator activity, ATP binding, protein binding, ribonuclease activity, RNA helicase activity, RNA binding, RNA binding, DNA binding, GO:0090501, GO:0045944, GO:0019216, GO:0000184, RNA phosphodiester bond hydrolysis, positive regulation of transcription by RNA polymerase II, regulation of lipid metabolic process, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 3392 2629 5158 3204 2657 3575 4147 2356 2875 ENSG00000130590 chr20 63974113 63980008 - SAMD10 protein_coding 140700 5 1 15 22 9 27 17 5 23 ENSG00000130592 chr11 1852970 1892267 + LSP1 protein_coding This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 4046 GO:0070062, GO:0016020, GO:0015629, GO:0005886, extracellular exosome, membrane, actin cytoskeleton, plasma membrane, GO:0003779, actin binding, GO:0007165, GO:0006968, signal transduction, cellular defense response, 15060 15373 19640 4603 9215 7101 6162 8865 7024 ENSG00000130595 chr11 1919562 1938706 + TNNT3 protein_coding The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]. 7140 GO:0005861, GO:0005861, GO:0005829, troponin complex, troponin complex, cytosol, GO:0048306, GO:0031013, GO:0031013, GO:0030172, GO:0030172, GO:0005523, GO:0005523, GO:0005523, GO:0003779, calcium-dependent protein binding, troponin I binding, troponin I binding, troponin C binding, troponin C binding, tropomyosin binding, tropomyosin binding, tropomyosin binding, actin binding, GO:1903612, GO:0045214, GO:0043462, GO:0030049, GO:0006942, GO:0006936, GO:0003009, GO:0003009, positive regulation of calcium-dependent ATPase activity, sarcomere organization, regulation of ATPase activity, muscle filament sliding, regulation of striated muscle contraction, muscle contraction, skeletal muscle contraction, skeletal muscle contraction, 157 114 159 122 65 92 121 68 101 ENSG00000130598 chr11 1838989 1841680 + TNNI2 protein_coding This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]. 7136 GO:0005861, GO:0005861, GO:0005829, GO:0005634, troponin complex, troponin complex, cytosol, nucleus, GO:0031014, GO:0005515, GO:0003779, troponin T binding, protein binding, actin binding, GO:0060048, GO:0045893, GO:0030049, GO:0006937, GO:0006936, GO:0003009, GO:0003009, cardiac muscle contraction, positive regulation of transcription, DNA-templated, muscle filament sliding, regulation of muscle contraction, muscle contraction, skeletal muscle contraction, skeletal muscle contraction, 340 410 390 289 274 227 297 252 239 ENSG00000130600 chr11 1995176 2001470 - H19 processed_transcript This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 283120 GO:2001170, GO:1903945, GO:1903428, GO:1901670, GO:1900017, GO:0098586, GO:0051897, GO:0035196, GO:0035195, negative regulation of ATP biosynthetic process, positive regulation of hepatocyte apoptotic process, positive regulation of reactive oxygen species biosynthetic process, negative regulation of superoxide dismutase activity, positive regulation of cytokine production involved in inflammatory response, cellular response to virus, positive regulation of protein kinase B signaling, production of miRNAs involved in gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000130612 chr19 40890826 40900508 + CYP2G1P transcribed_unprocessed_pseudogene 22952 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0020037, GO:0016712, GO:0008395, GO:0008392, GO:0005506, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, arachidonic acid epoxygenase activity, iron ion binding, GO:0055114, GO:0042738, GO:0019373, GO:0006805, GO:0006082, oxidation-reduction process, exogenous drug catabolic process, epoxygenase P450 pathway, xenobiotic metabolic process, organic acid metabolic process, 0 0 0 1 1 5 0 2 0 ENSG00000130635 chr9 134641774 134844843 + COL5A1 protein_coding This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]. 1289 GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005604, GO:0005588, GO:0005588, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, basement membrane, collagen type V trimer, collagen type V trimer, extracellular region, extracellular region, GO:0048407, GO:0046872, GO:0043394, GO:0030020, GO:0030020, GO:0008201, GO:0008201, GO:0005515, GO:0005201, GO:0005178, platelet-derived growth factor binding, metal ion binding, proteoglycan binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, heparin binding, heparin binding, protein binding, extracellular matrix structural constituent, integrin binding, GO:1903225, GO:0097435, GO:0051128, GO:0048592, GO:0045112, GO:0043588, GO:0035989, GO:0035313, GO:0032964, GO:0030199, GO:0030199, GO:0030199, GO:0030198, GO:0030198, GO:0016477, GO:0007155, GO:0007155, GO:0003007, GO:0001568, negative regulation of endodermal cell differentiation, supramolecular fiber organization, regulation of cellular component organization, eye morphogenesis, integrin biosynthetic process, skin development, tendon development, wound healing, spreading of epidermal cells, collagen biosynthetic process, collagen fibril organization, collagen fibril organization, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, cell migration, cell adhesion, cell adhesion, heart morphogenesis, blood vessel development, 0 1 1 0 0 4 3 4 8 ENSG00000130638 chr22 45671798 45845307 + ATXN10 protein_coding This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]. 25814 GO:0048471, GO:0043025, GO:0030425, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005615, perinuclear region of cytoplasm, neuronal cell body, dendrite, membrane, plasma membrane, cytosol, cytosol, cytoplasm, extracellular space, GO:0042802, GO:0019899, GO:0005515, identical protein binding, enzyme binding, protein binding, GO:0060271, GO:0031175, GO:0031175, GO:0007399, cilium assembly, neuron projection development, neuron projection development, nervous system development, 24 25 48 79 38 62 77 32 55 ENSG00000130640 chr10 133278630 133312337 - TUBGCP2 protein_coding 10844 GO:0016020, GO:0008275, GO:0005881, GO:0005829, GO:0005815, GO:0005815, GO:0005813, GO:0005813, GO:0005654, GO:0000930, GO:0000923, GO:0000922, membrane, gamma-tubulin small complex, cytoplasmic microtubule, cytosol, microtubule organizing center, microtubule organizing center, centrosome, centrosome, nucleoplasm, gamma-tubulin complex, equatorial microtubule organizing center, spindle pole, GO:0051011, GO:0043015, GO:0005515, microtubule minus-end binding, gamma-tubulin binding, protein binding, GO:0065003, GO:0051415, GO:0051321, GO:0051225, GO:0031122, GO:0007420, GO:0007020, GO:0001764, GO:0000278, protein-containing complex assembly, microtubule nucleation by interphase microtubule organizing center, meiotic cell cycle, spindle assembly, cytoplasmic microtubule organization, brain development, microtubule nucleation, neuron migration, mitotic cell cycle, 630 815 846 587 674 728 534 520 615 ENSG00000130643 chr10 133324072 133336935 - CALY protein_coding The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008]. 50632 GO:1904115, GO:0098978, GO:0098843, GO:0098843, GO:0031410, GO:0030659, GO:0016021, GO:0005887, GO:0005768, axon cytoplasm, glutamatergic synapse, postsynaptic endocytic zone, postsynaptic endocytic zone, cytoplasmic vesicle, cytoplasmic vesicle membrane, integral component of membrane, integral component of plasma membrane, endosome, GO:0044877, GO:0032051, GO:0032051, GO:0005515, protein-containing complex binding, clathrin light chain binding, clathrin light chain binding, protein binding, GO:2001019, GO:1905445, GO:0098884, GO:0048268, GO:0048268, GO:0045807, GO:0016197, GO:0008089, GO:0007212, positive regulation of retrograde axon cargo transport, positive regulation of clathrin coat assembly, postsynaptic neurotransmitter receptor internalization, clathrin coat assembly, clathrin coat assembly, positive regulation of endocytosis, endosomal transport, anterograde axonal transport, dopamine receptor signaling pathway, 0 0 0 2 1 0 0 0 0 ENSG00000130649 chr10 133520406 133561220 + CYP2E1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]. 1571 GO:0043231, GO:0031227, GO:0005789, GO:0005743, GO:0005737, GO:0000139, intracellular membrane-bounded organelle, intrinsic component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, mitochondrial inner membrane, cytoplasm, Golgi membrane, GO:0070330, GO:0051879, GO:0030544, GO:0020037, GO:0020037, GO:0019899, GO:0019825, GO:0018601, GO:0016712, GO:0016709, GO:0016491, GO:0008395, GO:0008392, GO:0005506, GO:0004497, GO:0004497, aromatase activity, Hsp90 protein binding, Hsp70 protein binding, heme binding, heme binding, enzyme binding, oxygen binding, 4-nitrophenol 2-monooxygenase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, steroid hydroxylase activity, arachidonic acid epoxygenase activity, iron ion binding, monooxygenase activity, monooxygenase activity, GO:0055114, GO:0055114, GO:0046483, GO:0045471, GO:0042759, GO:0042738, GO:0042197, GO:0019373, GO:0018960, GO:0018910, GO:0018885, GO:0017144, GO:0017144, GO:0017144, GO:0016098, GO:0010243, GO:0010193, GO:0009617, GO:0008202, GO:0006805, GO:0006805, GO:0006641, GO:0006082, GO:0002933, oxidation-reduction process, oxidation-reduction process, heterocycle metabolic process, response to ethanol, long-chain fatty acid biosynthetic process, exogenous drug catabolic process, halogenated hydrocarbon metabolic process, epoxygenase P450 pathway, 4-nitrophenol metabolic process, benzene metabolic process, carbon tetrachloride metabolic process, drug metabolic process, drug metabolic process, drug metabolic process, monoterpenoid metabolic process, response to organonitrogen compound, response to ozone, response to bacterium, steroid metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, triglyceride metabolic process, organic acid metabolic process, lipid hydroxylation, 0 0 2 10 1 2 2 0 0 ENSG00000130653 chr9 137459953 137550534 - PNPLA7 protein_coding Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]. 375775 GO:0016021, GO:0005811, GO:0005789, GO:0005783, integral component of membrane, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102545, GO:0004622, phosphatidyl phospholipase B activity, lysophospholipase activity, GO:0034638, phosphatidylcholine catabolic process, 8 1 8 9 7 10 7 1 27 ENSG00000130656 chr16 152687 154503 + HBZ protein_coding Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009]. 3050 GO:0070062, GO:0031838, GO:0005833, extracellular exosome, haptoglobin-hemoglobin complex, hemoglobin complex, GO:0043177, GO:0031720, GO:0020037, GO:0019825, GO:0005515, GO:0005506, GO:0005344, GO:0004601, organic acid binding, haptoglobin binding, heme binding, oxygen binding, protein binding, iron ion binding, oxygen carrier activity, peroxidase activity, GO:0098869, GO:0043249, GO:0042744, GO:0015671, GO:0000122, cellular oxidant detoxification, erythrocyte maturation, hydrogen peroxide catabolic process, oxygen transport, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000130669 chr19 39125770 39182816 + PAK4 protein_coding PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10298 GO:0005925, GO:0005912, GO:0005794, GO:0005737, focal adhesion, adherens junction, Golgi apparatus, cytoplasm, GO:0106311, GO:0106310, GO:0098641, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, cadherin binding involved in cell-cell adhesion, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000352, GO:0098609, GO:0071407, GO:0060996, GO:0045766, GO:0032147, GO:0031098, GO:0023014, GO:0016477, GO:0007165, GO:0007049, GO:0007010, GO:0006915, GO:0001558, negative regulation of endothelial cell apoptotic process, cell-cell adhesion, cellular response to organic cyclic compound, dendritic spine development, positive regulation of angiogenesis, activation of protein kinase activity, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, cell migration, signal transduction, cell cycle, cytoskeleton organization, apoptotic process, regulation of cell growth, 22 27 28 24 41 23 8 30 18 ENSG00000130675 chr7 156994051 157010651 - MNX1 protein_coding This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 3110 GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleolus, nucleoplasm, nucleus, chromatin, GO:1990837, GO:1990837, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0048812, GO:0031018, GO:0021520, GO:0007417, GO:0006357, neuron projection morphogenesis, endocrine pancreas development, spinal cord motor neuron cell fate specification, central nervous system development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000130684 chr20 25674215 25696841 - ZNF337 protein_coding This gene encodes a zinc finger domain containing protein. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 26152 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 30 28 52 84 21 94 32 13 83 ENSG00000130695 chr1 26234200 26278808 + CEP85 protein_coding This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 64793 GO:0005829, GO:0005813, GO:0005813, GO:0005794, GO:0005730, GO:0000922, GO:0000242, cytosol, centrosome, centrosome, Golgi apparatus, nucleolus, spindle pole, pericentriolar material, GO:0005515, protein binding, GO:0046602, GO:0007059, GO:0006469, regulation of mitotic centrosome separation, chromosome segregation, negative regulation of protein kinase activity, 32 40 44 49 27 41 26 21 33 ENSG00000130699 chr20 61953469 62065810 - TAF4 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]. 6874 GO:0071339, GO:0033276, GO:0032991, GO:0005829, GO:0005669, GO:0005669, GO:0005654, GO:0005654, GO:0000785, MLL1 complex, transcription factor TFTC complex, protein-containing complex, cytosol, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, chromatin, GO:0046982, GO:0017162, GO:0016251, GO:0016251, GO:0005515, GO:0003677, GO:0001046, protein heterodimerization activity, aryl hydrocarbon receptor binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, DNA binding, core promoter sequence-specific DNA binding, GO:1901796, GO:0016032, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0006352, GO:0001541, regulation of signal transduction by p53 class mediator, viral process, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, DNA-templated transcription, initiation, ovarian follicle development, 81 79 99 14 49 38 32 31 23 ENSG00000130700 chr20 62463497 62475970 - GATA5 protein_coding The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]. 140628 GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0008270, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901228, GO:0071773, GO:0062000, GO:0060575, GO:0048738, GO:0045944, GO:0045944, GO:0045165, GO:0035481, GO:0010629, GO:0010628, GO:0010614, GO:0007596, GO:0003274, GO:0003180, GO:0003180, positive regulation of transcription from RNA polymerase II promoter involved in heart development, cellular response to BMP stimulus, positive regulation of cardiac endothelial to mesenchymal transition, intestinal epithelial cell differentiation, cardiac muscle tissue development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cell fate commitment, positive regulation of Notch signaling pathway involved in heart induction, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cardiac muscle hypertrophy, blood coagulation, endocardial cushion fusion, aortic valve morphogenesis, aortic valve morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000130701 chr20 62410237 62427533 - RBBP8NL protein_coding 140893 GO:0005615, extracellular space, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000130702 chr20 62307955 62367312 - LAMA5 protein_coding This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]. 3911 GO:0070062, GO:0062023, GO:0062023, GO:0043260, GO:0043259, GO:0043259, GO:0043083, GO:0031594, GO:0005634, GO:0005615, GO:0005610, GO:0005604, GO:0005604, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, laminin-11 complex, laminin-10 complex, laminin-10 complex, synaptic cleft, neuromuscular junction, nucleus, extracellular space, laminin-5 complex, basement membrane, basement membrane, basement membrane, extracellular region, GO:0005201, GO:0005201, GO:0005178, GO:0005178, extracellular matrix structural constituent, extracellular matrix structural constituent, integrin binding, integrin binding, GO:0098609, GO:0072659, GO:0060445, GO:0060271, GO:0045995, GO:0042475, GO:0042127, GO:0034446, GO:0030334, GO:0030324, GO:0030198, GO:0030155, GO:0019221, GO:0016477, GO:0016477, GO:0016331, GO:0009888, GO:0009887, GO:0007517, GO:0007411, GO:0007229, GO:0007229, GO:0001942, GO:0001755, GO:0001738, GO:0001658, cell-cell adhesion, protein localization to plasma membrane, branching involved in salivary gland morphogenesis, cilium assembly, regulation of embryonic development, odontogenesis of dentin-containing tooth, regulation of cell population proliferation, substrate adhesion-dependent cell spreading, regulation of cell migration, lung development, extracellular matrix organization, regulation of cell adhesion, cytokine-mediated signaling pathway, cell migration, cell migration, morphogenesis of embryonic epithelium, tissue development, animal organ morphogenesis, muscle organ development, axon guidance, integrin-mediated signaling pathway, integrin-mediated signaling pathway, hair follicle development, neural crest cell migration, morphogenesis of a polarized epithelium, branching involved in ureteric bud morphogenesis, 120 117 124 77 145 99 141 107 91 ENSG00000130703 chr20 62231922 62296213 + OSBPL2 protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]. 9885 GO:0043231, GO:0031234, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005811, intracellular membrane-bounded organelle, extrinsic component of cytoplasmic side of plasma membrane, membrane, cytosol, cytosol, cytosol, lipid droplet, GO:0120020, GO:0032934, GO:0015485, GO:0015485, GO:0015248, GO:0008526, GO:0005546, GO:0005515, cholesterol transfer activity, sterol binding, cholesterol binding, cholesterol binding, sterol transporter activity, phosphatidylinositol transfer activity, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0120009, GO:0051289, GO:0032367, GO:0030301, GO:0015914, GO:0007009, GO:0006699, intermembrane lipid transfer, protein homotetramerization, intracellular cholesterol transport, cholesterol transport, phospholipid transport, plasma membrane organization, bile acid biosynthetic process, 3023 3049 3842 2341 3364 3794 2550 2458 2967 ENSG00000130706 chr20 62302093 62308862 + ADRM1 protein_coding This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 11047 GO:0008541, GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0000502, proteasome regulatory particle, lid subcomplex, plasma membrane, cytosol, cytosol, nucleoplasm, proteasome complex, GO:0070628, GO:0070628, GO:0061133, GO:0061133, GO:0043130, GO:0005515, GO:0002020, proteasome binding, proteasome binding, endopeptidase activator activity, endopeptidase activator activity, ubiquitin binding, protein binding, protease binding, GO:0043248, GO:0016579, GO:0010950, GO:0006511, GO:0006368, proteasome assembly, protein deubiquitination, positive regulation of endopeptidase activity, ubiquitin-dependent protein catabolic process, transcription elongation from RNA polymerase II promoter, 410 344 397 327 386 291 329 316 271 ENSG00000130707 chr9 130444929 130501274 + ASS1 protein_coding The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]. 445 GO:0070852, GO:0070062, GO:0043204, GO:0005829, GO:0005829, GO:0005783, GO:0005764, GO:0005741, GO:0005737, GO:0005634, cell body fiber, extracellular exosome, perikaryon, cytosol, cytosol, endoplasmic reticulum, lysosome, mitochondrial outer membrane, cytoplasm, nucleus, GO:0042802, GO:0016597, GO:0015643, GO:0005524, GO:0005515, GO:0004055, GO:0004055, GO:0003723, identical protein binding, amino acid binding, toxic substance binding, ATP binding, protein binding, argininosuccinate synthase activity, argininosuccinate synthase activity, RNA binding, GO:1903038, GO:0071549, GO:0071499, GO:0071418, GO:0071400, GO:0071377, GO:0071356, GO:0071346, GO:0071320, GO:0071242, GO:0071230, GO:0071222, GO:0060539, GO:0060416, GO:0045429, GO:0042493, GO:0032355, GO:0010046, GO:0010043, GO:0007623, GO:0007584, GO:0007568, GO:0007494, GO:0006953, GO:0006531, GO:0006526, GO:0006526, GO:0006526, GO:0001889, GO:0001822, GO:0000053, GO:0000053, GO:0000052, GO:0000050, GO:0000050, GO:0000050, GO:0000050, negative regulation of leukocyte cell-cell adhesion, cellular response to dexamethasone stimulus, cellular response to laminar fluid shear stress, cellular response to amine stimulus, cellular response to oleic acid, cellular response to glucagon stimulus, cellular response to tumor necrosis factor, cellular response to interferon-gamma, cellular response to cAMP, cellular response to ammonium ion, cellular response to amino acid stimulus, cellular response to lipopolysaccharide, diaphragm development, response to growth hormone, positive regulation of nitric oxide biosynthetic process, response to drug, response to estradiol, response to mycotoxin, response to zinc ion, circadian rhythm, response to nutrient, aging, midgut development, acute-phase response, aspartate metabolic process, arginine biosynthetic process, arginine biosynthetic process, arginine biosynthetic process, liver development, kidney development, argininosuccinate metabolic process, argininosuccinate metabolic process, citrulline metabolic process, urea cycle, urea cycle, urea cycle, urea cycle, 0 0 0 0 0 0 0 0 0 ENSG00000130711 chr9 130664594 130682981 + PRDM12 protein_coding This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2 zinc finger DNA-binding domains. Naturally occurring mutations in this gene are associated with congenital insensitivity to pain (CIP), and hereditary sensory and autonomic neuropathies (HSAN's) affecting peripheral sensory and autonomic neurons. Deregulation of this gene is associated with solid cancers and hematological malignancies including chronic myeloid leukaemia. [provided by RefSeq, Mar 2017]. 59335 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:1990226, GO:1990226, GO:0046872, GO:0008168, GO:0003677, histone methyltransferase binding, histone methyltransferase binding, metal ion binding, methyltransferase activity, DNA binding, GO:1900111, GO:1900111, GO:0051574, GO:0050965, GO:0032259, GO:0031175, GO:0022008, GO:0019233, GO:0010468, GO:0000122, positive regulation of histone H3-K9 dimethylation, positive regulation of histone H3-K9 dimethylation, positive regulation of histone H3-K9 methylation, detection of temperature stimulus involved in sensory perception of pain, methylation, neuron projection development, neurogenesis, sensory perception of pain, regulation of gene expression, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000130713 chr9 130693721 130704894 + EXOSC2 protein_coding 23404 GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000178, GO:0000178, GO:0000177, GO:0000176, GO:0000176, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, exosome (RNase complex), exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), nuclear exosome (RNase complex), GO:0008312, GO:0005515, GO:0004532, GO:0003723, GO:0000175, 7S RNA binding, protein binding, exoribonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, GO:0071051, GO:0071049, GO:0071038, GO:0071035, GO:0071034, GO:0043928, GO:0043928, GO:0043488, GO:0034475, GO:0034427, GO:0030307, GO:0006364, GO:0000467, polyadenylation-dependent snoRNA 3'-end processing, nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription, nuclear polyadenylation-dependent tRNA catabolic process, nuclear polyadenylation-dependent rRNA catabolic process, CUT catabolic process, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, U4 snRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', positive regulation of cell growth, rRNA processing, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 28 19 36 67 24 60 41 26 34 ENSG00000130714 chr9 131502902 131523806 + POMT1 protein_coding The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]. 10585 GO:0016529, GO:0016021, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0001669, sarcoplasmic reticulum, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, acrosomal vesicle, GO:0046872, GO:0004169, GO:0000030, metal ion binding, dolichyl-phosphate-mannose-protein mannosyltransferase activity, mannosyltransferase activity, GO:1904100, GO:0035269, GO:0035269, GO:0030198, GO:0007275, GO:0006493, GO:0005975, positive regulation of protein O-linked glycosylation, protein O-linked mannosylation, protein O-linked mannosylation, extracellular matrix organization, multicellular organism development, protein O-linked glycosylation, carbohydrate metabolic process, 46 64 86 87 87 118 100 61 68 ENSG00000130717 chr9 131523801 131531268 - UCK1 protein_coding This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]. 83549 GO:0005829, GO:0005829, cytosol, cytosol, GO:0016301, GO:0005524, GO:0004849, kinase activity, ATP binding, uridine kinase activity, GO:0044211, GO:0044206, GO:0043097, GO:0016310, CTP salvage, UMP salvage, pyrimidine nucleoside salvage, phosphorylation, 129 129 123 74 174 93 137 144 77 ENSG00000130720 chr9 130902438 130939286 - FIBCD1 protein_coding FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).[supplied by OMIM, Apr 2010]. 84929 GO:0062023, GO:0016021, GO:0016020, GO:0005615, collagen-containing extracellular matrix, integral component of membrane, membrane, extracellular space, GO:0046872, GO:0008061, GO:0005515, GO:0005102, metal ion binding, chitin binding, protein binding, signaling receptor binding, GO:0007155, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000130723 chr9 131373636 131500197 + PRRC2B protein_coding 84726 GO:0005515, GO:0003723, protein binding, RNA binding, GO:0030154, cell differentiation, 873 1057 1381 753 748 1005 781 542 839 ENSG00000130724 chr19 58551566 58555124 - CHMP2A protein_coding CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]. 27243 GO:0070062, GO:0031902, GO:0030117, GO:0016020, GO:0005829, GO:0005771, GO:0005635, GO:0000815, GO:0000815, GO:0000815, GO:0000785, extracellular exosome, late endosome membrane, membrane coat, membrane, cytosol, multivesicular body, nuclear envelope, ESCRT III complex, ESCRT III complex, ESCRT III complex, chromatin, GO:0031210, GO:0019904, GO:0005515, phosphatidylcholine binding, protein domain specific binding, protein binding, GO:1904903, GO:1903723, GO:1903543, GO:1902188, GO:1902188, GO:1901673, GO:0061952, GO:0060548, GO:0051260, GO:0051258, GO:0050792, GO:0045324, GO:0045184, GO:0039702, GO:0039702, GO:0039702, GO:0039702, GO:0036258, GO:0032509, GO:0031468, GO:0019058, GO:0016236, GO:0016197, GO:0015031, GO:0010824, GO:0010458, GO:0010324, GO:0007080, GO:0006997, ESCRT III complex disassembly, negative regulation of centriole elongation, positive regulation of exosomal secretion, positive regulation of viral release from host cell, positive regulation of viral release from host cell, regulation of mitotic spindle assembly, midbody abscission, negative regulation of cell death, protein homooligomerization, protein polymerization, regulation of viral process, late endosome to vacuole transport, establishment of protein localization, viral budding via host ESCRT complex, viral budding via host ESCRT complex, viral budding via host ESCRT complex, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, nuclear envelope reassembly, viral life cycle, macroautophagy, endosomal transport, protein transport, regulation of centrosome duplication, exit from mitosis, membrane invagination, mitotic metaphase plate congression, nucleus organization, 2970 2706 3093 1658 2546 2280 1860 2357 1848 ENSG00000130725 chr19 58555712 58558960 - UBE2M protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]. 9040 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0061631, GO:0019788, GO:0019788, GO:0019788, GO:0005524, GO:0005515, GO:0004842, GO:0004842, ubiquitin conjugating enzyme activity, NEDD8 transferase activity, NEDD8 transferase activity, NEDD8 transferase activity, ATP binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0045116, GO:0045116, GO:0045116, GO:0043687, GO:0043525, GO:0006464, GO:0006464, GO:0000209, protein neddylation, protein neddylation, protein neddylation, post-translational protein modification, positive regulation of neuron apoptotic process, cellular protein modification process, cellular protein modification process, protein polyubiquitination, 1159 1021 1074 347 691 445 402 590 514 ENSG00000130726 chr19 58544091 58550722 + TRIM28 protein_coding The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]. 10155 GO:0090575, GO:0090575, GO:0032991, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000792, GO:0000791, GO:0000785, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, protein-containing complex, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, heterochromatin, euchromatin, chromatin, GO:1990841, GO:1990841, GO:0070087, GO:0043565, GO:0035851, GO:0031625, GO:0019789, GO:0008270, GO:0005515, GO:0004842, GO:0004842, GO:0004672, GO:0003723, GO:0003714, GO:0003714, GO:0003713, GO:0003682, GO:0003677, GO:0003677, promoter-specific chromatin binding, promoter-specific chromatin binding, chromo shadow domain binding, sequence-specific DNA binding, Krueppel-associated box domain binding, ubiquitin protein ligase binding, SUMO transferase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, protein kinase activity, RNA binding, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, chromatin binding, DNA binding, DNA binding, GO:2000653, GO:1902187, GO:1901536, GO:0090309, GO:0090309, GO:0060669, GO:0060028, GO:0046777, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045869, GO:0045739, GO:0045087, GO:0045087, GO:0043388, GO:0043045, GO:0042307, GO:0016925, GO:0016925, GO:0016925, GO:0016567, GO:0016032, GO:0007566, GO:0007265, GO:0006367, GO:0006325, GO:0006281, GO:0001837, GO:0000122, regulation of genetic imprinting, negative regulation of viral release from host cell, negative regulation of DNA demethylation, positive regulation of DNA methylation-dependent heterochromatin assembly, positive regulation of DNA methylation-dependent heterochromatin assembly, embryonic placenta morphogenesis, convergent extension involved in axis elongation, protein autophosphorylation, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, positive regulation of DNA repair, innate immune response, innate immune response, positive regulation of DNA binding, DNA methylation involved in embryo development, positive regulation of protein import into nucleus, protein sumoylation, protein sumoylation, protein sumoylation, protein ubiquitination, viral process, embryo implantation, Ras protein signal transduction, transcription initiation from RNA polymerase II promoter, chromatin organization, DNA repair, epithelial to mesenchymal transition, negative regulation of transcription by RNA polymerase II, 937 1048 1116 1526 1853 1703 1272 1023 1097 ENSG00000130731 chr16 634427 636366 - METTL26 protein_coding 84326 17 22 17 52 21 42 38 23 48 ENSG00000130733 chr19 10922185 10928681 - YIPF2 protein_coding 78992 GO:0031902, GO:0030133, GO:0016021, GO:0005802, GO:0005797, GO:0005794, GO:0000138, late endosome membrane, transport vesicle, integral component of membrane, trans-Golgi network, Golgi medial cisterna, Golgi apparatus, Golgi trans cisterna, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0016192, vesicle-mediated transport, 19 24 24 46 45 59 39 41 22 ENSG00000130734 chr19 10543895 10553418 + ATG4D protein_coding Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 84971 GO:0005759, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrion, nucleoplasm, GO:0008234, cysteine-type peptidase activity, GO:0015031, GO:0006915, GO:0006914, GO:0006508, protein transport, apoptotic process, autophagy, proteolysis, 325 239 369 253 280 224 208 178 225 ENSG00000130741 chrX 24054716 24077971 + EIF2S3 protein_coding The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010]. 1968 GO:0070062, GO:0005850, GO:0005850, GO:0005829, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, eukaryotic translation initiation factor 2 complex, eukaryotic translation initiation factor 2 complex, cytosol, cytosol, cytoplasm, nucleus, GO:0045296, GO:0008135, GO:0005525, GO:0005515, GO:0003924, GO:0003743, GO:0003743, GO:0000049, cadherin binding, translation factor activity, RNA binding, GTP binding, protein binding, GTPase activity, translation initiation factor activity, translation initiation factor activity, tRNA binding, GO:0055085, GO:0045903, GO:0006413, GO:0006413, GO:0001731, transmembrane transport, positive regulation of translational fidelity, translational initiation, translational initiation, formation of translation preinitiation complex, 1591 1462 2114 963 1062 1254 1053 944 1099 ENSG00000130748 chr19 47045907 47048630 - TMEM160 protein_coding 54958 GO:0016021, integral component of membrane, GO:0005515, protein binding, 14 16 22 13 21 29 17 15 33 ENSG00000130749 chr19 47064187 47113752 - ZC3H4 protein_coding This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]. 23211 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0003723, GO:0000981, metal ion binding, RNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 591 737 814 421 438 461 335 339 317 ENSG00000130751 chr19 47019820 47045775 + NPAS1 protein_coding The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]. 4861 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046982, GO:0003700, GO:0000981, GO:0000981, GO:0000977, protein heterodimerization activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0042711, GO:0007417, GO:0006357, GO:0001964, GO:0000122, negative regulation of transcription, DNA-templated, maternal behavior, central nervous system development, regulation of transcription by RNA polymerase II, startle response, negative regulation of transcription by RNA polymerase II, 3 0 0 1 0 0 2 0 0 ENSG00000130755 chr19 39328353 39342372 - GMFG protein_coding 9535 GO:1904813, GO:0034774, GO:0005576, ficolin-1-rich granule lumen, secretory granule lumen, extracellular region, GO:0071933, GO:0008083, GO:0008047, GO:0004860, GO:0003779, Arp2/3 complex binding, growth factor activity, enzyme activator activity, protein kinase inhibitor activity, actin binding, GO:2000249, GO:0071846, GO:0043312, GO:0043085, GO:0034316, GO:0007165, GO:0006469, GO:0006468, regulation of actin cytoskeleton reorganization, actin filament debranching, neutrophil degranulation, positive regulation of catalytic activity, negative regulation of Arp2/3 complex-mediated actin nucleation, signal transduction, negative regulation of protein kinase activity, protein phosphorylation, 5163 4484 5828 1890 3537 2932 2265 3427 2652 ENSG00000130758 chr19 40191744 40215575 + MAP3K10 protein_coding The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]. 4294 GO:0005737, cytoplasm, GO:0043425, GO:0042803, GO:0005524, GO:0004706, GO:0004706, GO:0004674, GO:0004672, GO:0003714, bHLH transcription factor binding, protein homodimerization activity, ATP binding, JUN kinase kinase kinase activity, JUN kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, transcription corepressor activity, GO:0046777, GO:0046330, GO:0045892, GO:0045892, GO:0043507, GO:0043433, GO:0043065, GO:0018107, GO:0018105, GO:0007257, GO:0007257, GO:0007256, GO:0007254, GO:0007224, GO:0007165, GO:0006915, protein autophosphorylation, positive regulation of JNK cascade, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of JUN kinase activity, negative regulation of DNA-binding transcription factor activity, positive regulation of apoptotic process, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, activation of JUN kinase activity, activation of JUN kinase activity, activation of JNKK activity, JNK cascade, smoothened signaling pathway, signal transduction, apoptotic process, 26 24 58 37 42 49 31 34 37 ENSG00000130762 chr1 3454426 3481113 + ARHGEF16 protein_coding Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]. 27237 GO:0005829, cytosol, GO:0045296, GO:0031267, GO:0030971, GO:0030165, GO:0005515, GO:0005085, GO:0005085, cadherin binding, small GTPase binding, receptor tyrosine kinase binding, PDZ domain binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1903078, GO:0090630, GO:0090630, GO:0090630, GO:0060326, GO:0051056, GO:0043065, GO:0007186, positive regulation of protein localization to plasma membrane, activation of GTPase activity, activation of GTPase activity, activation of GTPase activity, cell chemotaxis, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, G protein-coupled receptor signaling pathway, 0 1 0 0 1 0 0 5 0 ENSG00000130764 chr1 3778558 3796504 - LRRC47 protein_coding 57470 GO:0005515, GO:0004826, GO:0003723, protein binding, phenylalanine-tRNA ligase activity, RNA binding, 95 110 113 92 130 113 111 124 112 ENSG00000130766 chr1 28259527 28282491 + SESN2 protein_coding This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]. 83667 GO:1990316, GO:0061700, GO:0061700, GO:0031932, GO:0031932, GO:0031588, GO:0005829, GO:0005739, GO:0005737, GO:0005634, Atg1/ULK1 kinase complex, GATOR2 complex, GATOR2 complex, TORC2 complex, TORC2 complex, nucleotide-activated protein kinase complex, cytosol, mitochondrion, cytoplasm, nucleus, GO:0070728, GO:0070728, GO:0032542, GO:0032542, GO:0016684, GO:0016684, GO:0005515, GO:0005092, leucine binding, leucine binding, sulfiredoxin activity, sulfiredoxin activity, oxidoreductase activity, acting on peroxide as acceptor, oxidoreductase activity, acting on peroxide as acceptor, protein binding, GDP-dissociation inhibitor activity, GO:2000479, GO:1990253, GO:1990253, GO:1904504, GO:1904262, GO:1904262, GO:1902010, GO:1901031, GO:1900182, GO:0098869, GO:0098869, GO:0098869, GO:0072593, GO:0071233, GO:0071233, GO:0071230, GO:0070328, GO:0046323, GO:0043491, GO:0042593, GO:0042149, GO:0036091, GO:0034599, GO:0034198, GO:0032868, GO:0032042, GO:0030330, GO:0030308, GO:0016239, GO:0016239, GO:0009749, GO:0006635, GO:0006111, GO:0001932, regulation of cAMP-dependent protein kinase activity, cellular response to leucine starvation, cellular response to leucine starvation, positive regulation of lipophagy, negative regulation of TORC1 signaling, negative regulation of TORC1 signaling, negative regulation of translation in response to endoplasmic reticulum stress, regulation of response to reactive oxygen species, positive regulation of protein localization to nucleus, cellular oxidant detoxification, cellular oxidant detoxification, cellular oxidant detoxification, reactive oxygen species metabolic process, cellular response to leucine, cellular response to leucine, cellular response to amino acid stimulus, triglyceride homeostasis, glucose import, protein kinase B signaling, glucose homeostasis, cellular response to glucose starvation, positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress, cellular response to oxidative stress, cellular response to amino acid starvation, response to insulin, mitochondrial DNA metabolic process, DNA damage response, signal transduction by p53 class mediator, negative regulation of cell growth, positive regulation of macroautophagy, positive regulation of macroautophagy, response to glucose, fatty acid beta-oxidation, regulation of gluconeogenesis, regulation of protein phosphorylation, 422 544 684 270 511 498 299 373 435 ENSG00000130768 chr1 27934993 27959157 + SMPDL3B protein_coding 27293 GO:0070062, GO:0031225, GO:0005886, GO:0005615, GO:0005615, extracellular exosome, anchored component of membrane, plasma membrane, extracellular space, extracellular space, GO:0016798, GO:0008270, GO:0008081, GO:0008081, GO:0008081, GO:0004767, hydrolase activity, acting on glycosyl bonds, zinc ion binding, phosphoric diester hydrolase activity, phosphoric diester hydrolase activity, phosphoric diester hydrolase activity, sphingomyelin phosphodiesterase activity, GO:0050728, GO:0046466, GO:0045087, GO:0034122, GO:0008150, GO:0006954, GO:0006685, negative regulation of inflammatory response, membrane lipid catabolic process, innate immune response, negative regulation of toll-like receptor signaling pathway, biological_process, inflammatory response, sphingomyelin catabolic process, 38 51 92 36 56 69 25 42 51 ENSG00000130770 chr1 28236109 28246906 + ATP5IF1 protein_coding This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 93974 GO:0032991, GO:0009986, GO:0005739, GO:0005739, GO:0005739, GO:0005739, protein-containing complex, cell surface, mitochondrion, mitochondrion, mitochondrion, mitochondrion, GO:0140260, GO:0051117, GO:0051117, GO:0051117, GO:0043532, GO:0042803, GO:0042802, GO:0042030, GO:0042030, GO:0042030, GO:0042030, GO:0019899, GO:0005516, GO:0005515, GO:0004857, mitochondrial proton-transporting ATP synthase complex binding, ATPase binding, ATPase binding, ATPase binding, angiostatin binding, protein homodimerization activity, identical protein binding, ATPase inhibitor activity, ATPase inhibitor activity, ATPase inhibitor activity, ATPase inhibitor activity, enzyme binding, calmodulin binding, protein binding, enzyme inhibitor activity, GO:1904925, GO:1903578, GO:1903214, GO:1903052, GO:1901030, GO:0072593, GO:0051882, GO:0051346, GO:0051346, GO:0032780, GO:0032780, GO:0030218, GO:0006783, GO:0006783, GO:0006091, GO:0001937, GO:0001525, positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization, regulation of ATP metabolic process, regulation of protein targeting to mitochondrion, positive regulation of proteolysis involved in cellular protein catabolic process, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, reactive oxygen species metabolic process, mitochondrial depolarization, negative regulation of hydrolase activity, negative regulation of hydrolase activity, negative regulation of ATPase activity, negative regulation of ATPase activity, erythrocyte differentiation, heme biosynthetic process, heme biosynthetic process, generation of precursor metabolites and energy, negative regulation of endothelial cell proliferation, angiogenesis, 306 247 341 215 262 296 191 276 285 ENSG00000130772 chr1 28329002 28335967 + MED18 protein_coding MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]. 54797 GO:0070847, GO:0016592, GO:0016592, core mediator complex, mediator complex, mediator complex, GO:0005515, GO:0003712, protein binding, transcription coregulator activity, GO:0006369, GO:0006357, termination of RNA polymerase II transcription, regulation of transcription by RNA polymerase II, 205 191 267 41 57 91 74 55 52 ENSG00000130775 chr1 27872543 27886685 + THEMIS2 protein_coding 9473 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0050852, GO:0007155, GO:0006954, T cell receptor signaling pathway, cell adhesion, inflammatory response, 16224 15583 18641 3426 7336 4668 4305 5453 4389 ENSG00000130779 chr12 122271432 122422632 - CLIP1 protein_coding The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 6249 GO:0044354, GO:0035371, GO:0030659, GO:0015630, GO:0005882, GO:0005881, GO:0005874, GO:0005874, GO:0005829, GO:0005813, GO:0005737, GO:0005635, GO:0005634, GO:0001726, GO:0000776, macropinosome, microtubule plus-end, cytoplasmic vesicle membrane, microtubule cytoskeleton, intermediate filament, cytoplasmic microtubule, microtubule, microtubule, cytosol, centrosome, cytoplasm, nuclear envelope, nucleus, ruffle, kinetochore, GO:0051010, GO:0051010, GO:0015631, GO:0008270, GO:0008017, GO:0005515, microtubule plus-end binding, microtubule plus-end binding, tubulin binding, zinc ion binding, microtubule binding, protein binding, GO:0044861, GO:0031122, GO:0031116, GO:0031116, GO:0001578, GO:0000278, protein transport into plasma membrane raft, cytoplasmic microtubule organization, positive regulation of microtubule polymerization, positive regulation of microtubule polymerization, microtubule bundle formation, mitotic cell cycle, 1613 1328 1811 804 1111 1163 962 815 1023 ENSG00000130783 chr12 122774327 122827528 + CCDC62 protein_coding 84660 GO:0005886, GO:0005737, GO:0005654, GO:0005634, plasma membrane, cytoplasm, nucleoplasm, nucleus, GO:0030374, GO:0030331, GO:0005515, nuclear receptor coactivator activity, estrogen receptor binding, protein binding, GO:0071392, GO:0045944, GO:0045944, GO:0001835, cellular response to estradiol stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, blastocyst hatching, 17 8 3 15 24 22 22 7 0 ENSG00000130787 chr12 122834453 122862960 + HIP1R protein_coding 9026 GO:0097060, GO:0048471, GO:0043231, GO:0043231, GO:0043197, GO:0043025, GO:0032839, GO:0032587, GO:0030665, GO:0030136, GO:0030136, GO:0016324, GO:0014069, GO:0005938, GO:0005905, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005739, synaptic membrane, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, dendritic spine, neuronal cell body, dendrite cytoplasm, ruffle membrane, clathrin-coated vesicle membrane, clathrin-coated vesicle, clathrin-coated vesicle, apical plasma membrane, postsynaptic density, cell cortex, clathrin-coated pit, plasma membrane, cytoskeleton, cytosol, cytosol, mitochondrion, GO:0080025, GO:0080025, GO:0051015, GO:0051015, GO:0046982, GO:0043325, GO:0043325, GO:0042803, GO:0042802, GO:0035615, GO:0035091, GO:0032051, GO:0030276, GO:0017124, GO:0005547, GO:0005546, GO:0005515, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, actin filament binding, actin filament binding, protein heterodimerization activity, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, protein homodimerization activity, identical protein binding, clathrin adaptor activity, phosphatidylinositol binding, clathrin light chain binding, clathrin binding, SH3 domain binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:2000588, GO:2000369, GO:1905445, GO:1901030, GO:0061024, GO:0060453, GO:0055123, GO:0050821, GO:0048268, GO:0048260, GO:0045742, GO:0043066, GO:0043065, GO:0034316, GO:0032956, GO:0032092, GO:0030837, GO:0030100, GO:0030100, GO:0007015, GO:0006919, GO:0006919, GO:0006915, GO:0006898, positive regulation of platelet-derived growth factor receptor-beta signaling pathway, regulation of clathrin-dependent endocytosis, positive regulation of clathrin coat assembly, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, membrane organization, regulation of gastric acid secretion, digestive system development, protein stabilization, clathrin coat assembly, positive regulation of receptor-mediated endocytosis, positive regulation of epidermal growth factor receptor signaling pathway, negative regulation of apoptotic process, positive regulation of apoptotic process, negative regulation of Arp2/3 complex-mediated actin nucleation, regulation of actin cytoskeleton organization, positive regulation of protein binding, negative regulation of actin filament polymerization, regulation of endocytosis, regulation of endocytosis, actin filament organization, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, receptor-mediated endocytosis, 71 121 120 193 174 226 240 127 167 ENSG00000130803 chr19 9140380 9163424 + ZNF317 protein_coding 57693 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 191 199 233 147 169 145 168 117 113 ENSG00000130810 chr19 10106289 10111634 + PPAN protein_coding The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]. 56342 GO:0030687, GO:0005730, GO:0005634, preribosome, large subunit precursor, nucleolus, nucleus, GO:0019843, GO:0003723, rRNA binding, RNA binding, GO:0000027, ribosomal large subunit assembly, 1 1 2 5 0 9 2 4 0 ENSG00000130811 chr19 10115017 10119918 - EIF3G protein_coding This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016]. 8666 GO:0048471, GO:0033290, GO:0016282, GO:0005852, GO:0005829, GO:0005829, GO:0005737, GO:0005634, perinuclear region of cytoplasm, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, eukaryotic translation initiation factor 3 complex, cytosol, cytosol, cytoplasm, nucleus, GO:0005515, GO:0003743, GO:0003743, GO:0003723, GO:0003723, protein binding, translation initiation factor activity, translation initiation factor activity, RNA binding, RNA binding, GO:0075525, GO:0006413, GO:0006413, GO:0006413, GO:0001732, viral translational termination-reinitiation, translational initiation, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, 239 225 360 419 287 611 316 276 417 ENSG00000130812 chr19 10092338 10102796 - ANGPTL6 protein_coding 83854 GO:0070062, GO:0062023, GO:0062023, GO:0030141, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, secretory granule, extracellular space, GO:0005102, signaling receptor binding, GO:0030154, GO:0001525, cell differentiation, angiogenesis, 76 49 82 80 57 85 76 86 76 ENSG00000130813 chr19 10086122 10093252 + C19orf66 protein_coding 55337 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000932, cytosol, cytoplasm, nucleoplasm, nucleus, P-body, GO:1990825, GO:0043022, GO:0005515, GO:0003723, sequence-specific mRNA binding, ribosome binding, protein binding, RNA binding, GO:2001125, GO:0075523, GO:0051607, GO:0051607, GO:0045071, GO:0035456, GO:0034342, GO:0034341, GO:0034340, GO:0006449, negative regulation of translational frameshifting, viral translational frameshifting, defense response to virus, defense response to virus, negative regulation of viral genome replication, response to interferon-beta, response to type III interferon, response to interferon-gamma, response to type I interferon, regulation of translational termination, 366 292 331 290 272 304 264 287 250 ENSG00000130816 chr19 10133345 10231286 - DNMT1 protein_coding This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 1786 GO:0005721, GO:0005657, GO:0005654, GO:0005634, GO:0005634, pericentric heterochromatin, replication fork, nucleoplasm, nucleus, nucleus, GO:1990841, GO:0009008, GO:0009008, GO:0008327, GO:0008270, GO:0005515, GO:0003886, GO:0003723, GO:0003677, promoter-specific chromatin binding, DNA-methyltransferase activity, DNA-methyltransferase activity, methyl-CpG binding, zinc ion binding, protein binding, DNA (cytosine-5-)-methyltransferase activity, RNA binding, DNA binding, GO:1905931, GO:1905460, GO:1904707, GO:0090309, GO:0090116, GO:0071230, GO:0051573, GO:0051571, GO:0045814, GO:0043045, GO:0016458, GO:0010629, GO:0010628, GO:0010216, GO:0007265, GO:0006325, GO:0006306, GO:0000122, negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching, negative regulation of vascular associated smooth muscle cell apoptotic process, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of DNA methylation-dependent heterochromatin assembly, C-5 methylation of cytosine, cellular response to amino acid stimulus, negative regulation of histone H3-K9 methylation, positive regulation of histone H3-K4 methylation, negative regulation of gene expression, epigenetic, DNA methylation involved in embryo development, gene silencing, negative regulation of gene expression, positive regulation of gene expression, maintenance of DNA methylation, Ras protein signal transduction, chromatin organization, DNA methylation, negative regulation of transcription by RNA polymerase II, 59 50 134 179 88 292 201 64 163 ENSG00000130818 chr19 9523224 9538645 - ZNF426 protein_coding Kaposi's sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 79088 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 200 196 195 174 130 194 99 121 157 ENSG00000130821 chrX 153688099 153696593 + SLC6A8 protein_coding The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 6535 GO:0016021, GO:0005887, GO:0005886, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005309, GO:0005308, GO:0003674, creatine:sodium symporter activity, creatine transmembrane transporter activity, molecular_function, GO:0071705, GO:0035725, GO:0015881, GO:0015881, GO:0006936, GO:0006836, GO:0006600, nitrogen compound transport, sodium ion transmembrane transport, creatine transmembrane transport, creatine transmembrane transport, muscle contraction, neurotransmitter transport, creatine metabolic process, 88 102 129 142 193 220 200 127 165 ENSG00000130822 chrX 153669730 153689010 - PNCK protein_coding PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008]. 139728 GO:0005737, GO:0005634, GO:0005622, cytoplasm, nucleus, intracellular anatomical structure, GO:0005524, GO:0005516, GO:0004683, ATP binding, calmodulin binding, calmodulin-dependent protein kinase activity, GO:0018105, peptidyl-serine phosphorylation, 3 2 6 5 5 0 3 4 6 ENSG00000130826 chrX 154762742 154777689 + DKC1 protein_coding This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 1736 GO:0090661, GO:0090661, GO:0072589, GO:0031429, GO:0031429, GO:0031429, GO:0005737, GO:0005730, GO:0005697, GO:0005697, GO:0005654, GO:0005654, GO:0005634, GO:0001650, box H/ACA telomerase RNP complex, box H/ACA telomerase RNP complex, box H/ACA scaRNP complex, box H/ACA snoRNP complex, box H/ACA snoRNP complex, box H/ACA snoRNP complex, cytoplasm, nucleolus, telomerase holoenzyme complex, telomerase holoenzyme complex, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:0070034, GO:0070034, GO:0034513, GO:0009982, GO:0009982, GO:0005515, GO:0003723, GO:0003723, GO:0003720, GO:0003720, telomerase RNA binding, telomerase RNA binding, box H/ACA snoRNA binding, pseudouridine synthase activity, pseudouridine synthase activity, protein binding, RNA binding, RNA binding, telomerase activity, telomerase activity, GO:1990481, GO:1904874, GO:1904874, GO:1904872, GO:1904871, GO:1904851, GO:0090669, GO:0090666, GO:0051973, GO:0032212, GO:0031120, GO:0031118, GO:0031118, GO:0007004, GO:0007004, GO:0007004, GO:0006396, GO:0006364, GO:0000495, GO:0000455, mRNA pseudouridine synthesis, positive regulation of telomerase RNA localization to Cajal body, positive regulation of telomerase RNA localization to Cajal body, regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, telomerase RNA stabilization, scaRNA localization to Cajal body, positive regulation of telomerase activity, positive regulation of telomere maintenance via telomerase, snRNA pseudouridine synthesis, rRNA pseudouridine synthesis, rRNA pseudouridine synthesis, telomere maintenance via telomerase, telomere maintenance via telomerase, telomere maintenance via telomerase, RNA processing, rRNA processing, box H/ACA snoRNA 3'-end processing, enzyme-directed rRNA pseudouridine synthesis, 117 138 182 131 128 162 118 121 155 ENSG00000130827 chrX 154458281 154477779 + PLXNA3 protein_coding This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system. This gene may be associated with tumor progression. [provided by RefSeq, Aug 2013]. 55558 GO:0016020, GO:0005887, GO:0005886, GO:0002116, GO:0002116, membrane, integral component of plasma membrane, plasma membrane, semaphorin receptor complex, semaphorin receptor complex, GO:0017154, GO:0005515, GO:0004888, semaphorin receptor activity, protein binding, transmembrane signaling receptor activity, GO:1990138, GO:1902287, GO:0071526, GO:0051495, GO:0050919, GO:0050772, GO:0048843, GO:0043087, GO:0030334, GO:0021860, GO:0021785, GO:0021766, GO:0021637, GO:0021612, GO:0008360, GO:0007275, GO:0007162, neuron projection extension, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway, positive regulation of cytoskeleton organization, negative chemotaxis, positive regulation of axonogenesis, negative regulation of axon extension involved in axon guidance, regulation of GTPase activity, regulation of cell migration, pyramidal neuron development, branchiomotor neuron axon guidance, hippocampus development, trigeminal nerve structural organization, facial nerve structural organization, regulation of cell shape, multicellular organism development, negative regulation of cell adhesion, 27 25 63 64 26 112 84 24 72 ENSG00000130829 chrX 153642492 153651326 + DUSP9 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product shows selectivity for members of the ERK family of MAP kinases and is localized to the cytoplasm and nucleus. Aberrant expression of this gene is associated with type 2 diabetes and cancer progression in several cell types. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 1852 GO:0005829, GO:0005829, GO:0005737, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, GO:0106307, GO:0106306, GO:0051019, GO:0017017, GO:0008330, GO:0005515, GO:0004725, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, MAP kinase tyrosine/serine/threonine phosphatase activity, protein tyrosine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0070373, GO:0060420, GO:0043065, GO:0035970, GO:0035335, GO:0007254, GO:0006470, GO:0000188, GO:0000187, GO:0000165, negative regulation of ERK1 and ERK2 cascade, regulation of heart growth, positive regulation of apoptotic process, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, JNK cascade, protein dephosphorylation, inactivation of MAPK activity, activation of MAPK activity, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000130830 chrX 154778684 154821007 - MPP1 protein_coding This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 4354 GO:0034451, GO:0032420, GO:0030863, GO:0016020, GO:0005886, GO:0005886, centriolar satellite, stereocilium, cortical cytoskeleton, membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004385, protein binding, guanylate kinase activity, GO:0090022, GO:0046710, GO:0046037, GO:0007165, regulation of neutrophil chemotaxis, GDP metabolic process, GMP metabolic process, signal transduction, 1412 1681 2075 713 1427 1208 911 1079 998 ENSG00000130844 chr19 53519527 53580269 + ZNF331 protein_coding This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. This gene may be methylated and silenced in cancer cells. This gene is located within a differentially methylated region (DMR) and shows allele-specific expression in placenta. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding the same protein. [provided by RefSeq, Nov 2015]. 55422 GO:0000785, chromatin, GO:0008270, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 140 117 295 1248 334 995 1027 308 664 ENSG00000130856 chr18 76822607 76970727 + ZNF236 protein_coding 7776 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071333, GO:0006357, cellular response to glucose stimulus, regulation of transcription by RNA polymerase II, 117 94 152 118 98 88 130 86 113 ENSG00000130876 chr19 33208664 33225850 - SLC7A10 protein_coding SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]. 56301 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0015194, GO:0015179, GO:0015175, GO:0015175, GO:0005515, L-serine transmembrane transporter activity, L-amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, protein binding, GO:1902475, GO:0050900, GO:0042942, GO:0042941, GO:0015825, GO:0015804, GO:0015804, GO:0006865, GO:0003333, L-alpha-amino acid transmembrane transport, leukocyte migration, D-serine transport, D-alanine transport, L-serine transport, neutral amino acid transport, neutral amino acid transport, amino acid transport, amino acid transmembrane transport, 1 5 8 2 2 1 4 2 0 ENSG00000130881 chr19 33177603 33208867 + LRP3 protein_coding 4037 GO:0016021, GO:0005905, integral component of membrane, clathrin-coated pit, GO:0150104, GO:0045669, GO:0045599, GO:0010629, GO:0010628, GO:0006898, transport across blood-brain barrier, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, negative regulation of gene expression, positive regulation of gene expression, receptor-mediated endocytosis, 27 32 27 0 28 18 9 17 18 ENSG00000130921 chr12 123232916 123257959 + C12orf65 protein_coding 91574 GO:0005762, GO:0005739, mitochondrial large ribosomal subunit, mitochondrion, GO:0003747, translation release factor activity, GO:0006415, translational termination, 64 56 81 56 62 56 48 34 34 ENSG00000130935 chr17 67717833 67744531 + NOL11 protein_coding 25926 GO:0034455, GO:0005730, GO:0005730, GO:0005654, t-UTP complex, nucleolus, nucleolus, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:1901838, GO:0030490, GO:0030490, GO:0006364, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, maturation of SSU-rRNA, maturation of SSU-rRNA, rRNA processing, 65 36 117 121 33 97 86 31 53 ENSG00000130939 chr1 10032832 10181239 + UBE4B protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10277 GO:0005737, GO:0005737, GO:0005634, GO:0000151, cytoplasm, cytoplasm, nucleus, ubiquitin ligase complex, GO:0051117, GO:0034450, GO:0019899, GO:0005524, ATPase binding, ubiquitin-ubiquitin ligase activity, enzyme binding, ATP binding, GO:0051865, GO:0043161, GO:0031175, GO:0030433, GO:0009411, GO:0008626, GO:0006513, GO:0006511, GO:0003222, GO:0000209, protein autoubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, neuron projection development, ubiquitin-dependent ERAD pathway, response to UV, granzyme-mediated apoptotic signaling pathway, protein monoubiquitination, ubiquitin-dependent protein catabolic process, ventricular trabecula myocardium morphogenesis, protein polyubiquitination, 1081 1221 1241 992 1482 1236 1117 1035 1000 ENSG00000130940 chr1 10636604 10796650 - CASZ1 protein_coding The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 54897 GO:0043231, GO:0005829, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, cytosol, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0001228, GO:0000977, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045893, GO:0045664, GO:0006355, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of neuron differentiation, regulation of transcription, DNA-templated, 195 174 188 156 146 189 233 97 175 ENSG00000130943 chr22 46255663 46263355 - PKDREJ protein_coding This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]. 10343 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0005509, GO:0005262, calcium ion binding, calcium channel activity, GO:0070588, GO:0050982, GO:0007340, calcium ion transmembrane transport, detection of mechanical stimulus, acrosome reaction, 1 4 0 2 7 0 3 0 2 ENSG00000130948 chr9 96235306 96302176 - HSD17B3 protein_coding This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]. 3293 GO:0043231, GO:0005789, GO:0005783, GO:0005783, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0047045, GO:0047045, GO:0004303, testosterone 17-beta-dehydrogenase (NADP+) activity, testosterone 17-beta-dehydrogenase (NADP+) activity, estradiol 17-beta-dehydrogenase activity, GO:0061370, GO:0055114, GO:0030539, GO:0006702, GO:0006694, testosterone biosynthetic process, oxidation-reduction process, male genitalia development, androgen biosynthetic process, steroid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000130950 chr9 94318196 94328644 - NUTM2F protein_coding 54754 5 1 1 4 0 8 4 1 0 ENSG00000130956 chr9 96450201 96491336 + HABP4 protein_coding 22927 GO:0097504, GO:0030017, GO:0016607, GO:0016528, GO:0015030, GO:0010494, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, Gemini of coiled bodies, sarcomere, nuclear speck, sarcoplasm, Cajal body, cytoplasmic stress granule, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, GO:0032183, GO:0005515, GO:0003723, SUMO binding, protein binding, RNA binding, GO:0071260, GO:0045948, GO:0045948, GO:0043392, GO:0033120, GO:0033120, GO:0030578, GO:0008380, GO:0006397, GO:0002576, cellular response to mechanical stimulus, positive regulation of translational initiation, positive regulation of translational initiation, negative regulation of DNA binding, positive regulation of RNA splicing, positive regulation of RNA splicing, PML body organization, RNA splicing, mRNA processing, platelet degranulation, 9 10 54 49 10 62 42 18 34 ENSG00000130957 chr9 94558720 94593793 - FBP2 protein_coding This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008]. 8789 GO:0070062, GO:0030054, GO:0030018, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, extracellular exosome, cell junction, Z disc, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0046872, GO:0042802, GO:0042132, GO:0005515, metal ion binding, identical protein binding, fructose 1,6-bisphosphate 1-phosphatase activity, protein binding, GO:0030388, GO:0016311, GO:0006094, GO:0006094, GO:0006094, GO:0006002, GO:0006000, GO:0005986, fructose 1,6-bisphosphate metabolic process, dephosphorylation, gluconeogenesis, gluconeogenesis, gluconeogenesis, fructose 6-phosphate metabolic process, fructose metabolic process, sucrose biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000130958 chr9 96313444 96383710 - SLC35D2 protein_coding Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]. 11046 GO:0016021, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0015297, GO:0005463, GO:0005462, GO:0005461, GO:0005338, GO:0005338, antiporter activity, UDP-N-acetylgalactosamine transmembrane transporter activity, UDP-N-acetylglucosamine transmembrane transporter activity, UDP-glucuronic acid transmembrane transporter activity, nucleotide-sugar transmembrane transporter activity, nucleotide-sugar transmembrane transporter activity, GO:1990569, GO:0018146, GO:0015789, GO:0015787, GO:0008643, GO:0008150, GO:0006024, UDP-N-acetylglucosamine transmembrane transport, keratan sulfate biosynthetic process, UDP-N-acetylgalactosamine transmembrane transport, UDP-glucuronic acid transmembrane transport, carbohydrate transport, biological_process, glycosaminoglycan biosynthetic process, 10 11 17 11 2 18 9 4 17 ENSG00000130962 chrX 37349275 37457295 + PRRG1 protein_coding This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]. 5638 GO:0005887, GO:0005576, integral component of plasma membrane, extracellular region, GO:0005515, GO:0005509, protein binding, calcium ion binding, 0 0 0 0 0 0 0 0 2 ENSG00000130985 chrX 47190861 47215128 + UBA1 protein_coding The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]. 7317 GO:0070062, GO:0030867, GO:0030057, GO:0010008, GO:0005829, GO:0005829, GO:0005765, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000792, extracellular exosome, rough endoplasmic reticulum membrane, desmosome, endosome membrane, cytosol, cytosol, lysosomal membrane, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, heterochromatin, GO:0005524, GO:0005515, GO:0004839, GO:0004839, GO:0004839, GO:0003723, ATP binding, protein binding, ubiquitin activating enzyme activity, ubiquitin activating enzyme activity, ubiquitin activating enzyme activity, RNA binding, GO:0032446, GO:0016567, GO:0016567, GO:0016567, GO:0006974, GO:0006974, GO:0006511, protein modification by small protein conjugation, protein ubiquitination, protein ubiquitination, protein ubiquitination, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, 2973 3157 4186 2261 2792 2941 2224 2126 2198 ENSG00000130988 chrX 47078355 47093314 + RGN protein_coding The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 9104 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0030234, GO:0008270, GO:0005509, GO:0005509, GO:0005509, GO:0004341, GO:0004341, enzyme regulator activity, zinc ion binding, calcium ion binding, calcium ion binding, calcium ion binding, gluconolactonase activity, gluconolactonase activity, GO:2000279, GO:1903634, GO:1903629, GO:1903625, GO:1903611, GO:1903052, GO:1903011, GO:1902679, GO:1901896, GO:1901671, GO:1901318, GO:0097421, GO:0051344, GO:0050848, GO:0050680, GO:0045723, GO:0045019, GO:0043547, GO:0043066, GO:0034260, GO:0032781, GO:0032515, GO:0019853, GO:0010922, GO:0010907, GO:0010867, GO:0007568, GO:0007283, GO:0006874, GO:0006469, GO:0001822, negative regulation of DNA biosynthetic process, negative regulation of leucine-tRNA ligase activity, positive regulation of dUTP diphosphatase activity, negative regulation of DNA catabolic process, negative regulation of calcium-dependent ATPase activity, positive regulation of proteolysis involved in cellular protein catabolic process, negative regulation of bone development, negative regulation of RNA biosynthetic process, positive regulation of ATPase-coupled calcium transmembrane transporter activity, positive regulation of superoxide dismutase activity, negative regulation of flagellated sperm motility, liver regeneration, negative regulation of cyclic-nucleotide phosphodiesterase activity, regulation of calcium-mediated signaling, negative regulation of epithelial cell proliferation, positive regulation of fatty acid biosynthetic process, negative regulation of nitric oxide biosynthetic process, positive regulation of GTPase activity, negative regulation of apoptotic process, negative regulation of GTPase activity, positive regulation of ATPase activity, negative regulation of phosphoprotein phosphatase activity, L-ascorbic acid biosynthetic process, positive regulation of phosphatase activity, positive regulation of glucose metabolic process, positive regulation of triglyceride biosynthetic process, aging, spermatogenesis, cellular calcium ion homeostasis, negative regulation of protein kinase activity, kidney development, 0 0 0 0 0 0 0 0 0 ENSG00000130997 chr4 2071918 2242121 - POLN protein_coding This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]. 353497 GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0030332, GO:0005515, GO:0003887, GO:0003887, GO:0003677, cyclin binding, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA binding, GO:0036297, GO:0036297, GO:0019985, GO:0019985, GO:0006261, GO:0000724, interstrand cross-link repair, interstrand cross-link repair, translesion synthesis, translesion synthesis, DNA-dependent DNA replication, double-strand break repair via homologous recombination, 0 3 4 5 3 7 1 7 0 ENSG00000131002 chrY 19567313 19606274 + TXLNGY transcribed_unprocessed_pseudogene 246126 GO:0019905, syntaxin binding, 123 96 256 370 108 382 379 65 246 ENSG00000131007 chrY 18581206 18590521 - TTTY9B antisense This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. 425057 0 0 0 0 0 0 0 0 0 ENSG00000131013 chr6 149504733 149546038 - PPIL4 protein_coding This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008]. 85313 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0005515, GO:0003755, GO:0003723, protein binding, peptidyl-prolyl cis-trans isomerase activity, RNA binding, GO:1901407, GO:0000413, regulation of phosphorylation of RNA polymerase II C-terminal domain, protein peptidyl-prolyl isomerization, 624 596 832 280 366 495 336 284 363 ENSG00000131015 chr6 149942000 149949235 + ULBP2 protein_coding This gene encodes a major histocompatibility complex (MHC) class I-related molecule that binds to the NKG2D receptor on natural killer (NK) cells to trigger release of multiple cytokines and chemokines that in turn contribute to the recruitment and activation of NK cells. The encoded protein undergoes further processing to generate the mature protein that is either anchored to membrane via a glycosylphosphatidylinositol moiety, or secreted. Many malignant cells secrete the encoded protein to evade immunosurveillance by NK cells. This gene is located in a cluster of multiple MHC class I-related genes on chromosome 6. [provided by RefSeq, Jul 2015]. 80328 GO:0046658, GO:0009986, GO:0009897, GO:0005886, GO:0005783, GO:0005615, GO:0005615, GO:0005576, anchored component of plasma membrane, cell surface, external side of plasma membrane, plasma membrane, endoplasmic reticulum, extracellular space, extracellular space, extracellular region, GO:0046703, GO:0005515, natural killer cell lectin-like receptor binding, protein binding, GO:0042267, GO:0030101, GO:0016032, GO:0006955, natural killer cell mediated cytotoxicity, natural killer cell activation, viral process, immune response, 5 3 11 14 4 58 14 2 37 ENSG00000131016 chr6 151239999 151358557 + AKAP12 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 9590 GO:0098685, GO:0043025, GO:0005938, GO:0005925, GO:0005886, GO:0005856, GO:0005829, GO:0005737, Schaffer collateral - CA1 synapse, neuronal cell body, cell cortex, focal adhesion, plasma membrane, cytoskeleton, cytosol, cytoplasm, GO:0051018, GO:0008179, GO:0005516, GO:0005515, protein kinase A binding, adenylate cyclase binding, calmodulin binding, protein binding, GO:1900143, GO:0090036, GO:0071356, GO:0071347, GO:0070374, GO:0061870, GO:0051770, GO:0051602, GO:0050804, GO:0043116, GO:0035733, GO:0032496, GO:0010739, GO:0010738, GO:0007193, GO:0007186, positive regulation of oligodendrocyte apoptotic process, regulation of protein kinase C signaling, cellular response to tumor necrosis factor, cellular response to interleukin-1, positive regulation of ERK1 and ERK2 cascade, positive regulation of hepatic stellate cell migration, positive regulation of nitric-oxide synthase biosynthetic process, response to electrical stimulus, modulation of chemical synaptic transmission, negative regulation of vascular permeability, hepatic stellate cell activation, response to lipopolysaccharide, positive regulation of protein kinase A signaling, regulation of protein kinase A signaling, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 4 13 15 7 23 21 48 17 14 ENSG00000131018 chr6 152121684 152637801 - SYNE1 protein_coding This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 23345 GO:0045211, GO:0034993, GO:0031965, GO:0030017, GO:0016021, GO:0005856, GO:0005794, GO:0005737, GO:0005730, GO:0005654, GO:0005640, GO:0005635, GO:0005634, GO:0000932, postsynaptic membrane, meiotic nuclear membrane microtubule tethering complex, nuclear membrane, sarcomere, integral component of membrane, cytoskeleton, Golgi apparatus, cytoplasm, nucleolus, nucleoplasm, nuclear outer membrane, nuclear envelope, nucleus, P-body, GO:0140444, GO:0051015, GO:0042803, GO:0019899, GO:0005521, GO:0005515, GO:0003779, GO:0003723, cytoskeleton-nuclear membrane anchor activity, actin filament binding, protein homodimerization activity, enzyme binding, lamin binding, protein binding, actin binding, RNA binding, GO:0090292, GO:0042692, GO:0007283, GO:0007030, GO:0007010, GO:0006997, nuclear matrix anchoring at nuclear membrane, muscle cell differentiation, spermatogenesis, Golgi organization, cytoskeleton organization, nucleus organization, 1053 1541 2878 776 398 1125 910 365 1063 ENSG00000131019 chr6 150063150 150069095 - ULBP3 protein_coding The protein encoded by this gene is one of several related ligands of the KLRK1/NKG2D receptor, which is found in primary NK cells. Binding of these ligands to the receptor activates several signal transduction pathways, including the JAK2, STAT5, and ERK pathways. The encoded protein is expressed solubly and on the surface of many tumor cells, making it potentially an important target for therapeutics. [provided by RefSeq, Nov 2015]. 79465 GO:0046658, GO:0009897, GO:0005886, GO:0005615, anchored component of plasma membrane, external side of plasma membrane, plasma membrane, extracellular space, GO:0046703, GO:0005515, natural killer cell lectin-like receptor binding, protein binding, GO:0050776, GO:0042267, GO:0030101, GO:0016032, GO:0006955, regulation of immune response, natural killer cell mediated cytotoxicity, natural killer cell activation, viral process, immune response, 0 0 3 1 0 0 0 1 0 ENSG00000131023 chr6 149658153 149718256 - LATS1 protein_coding The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. [provided by RefSeq, Apr 2017]. 9113 GO:0005829, GO:0005815, GO:0005634, GO:0000922, GO:0000922, cytosol, microtubule organizing center, nucleus, spindle pole, spindle pole, GO:0106311, GO:0106310, GO:0030331, GO:0019901, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, estrogen receptor binding, protein kinase binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:2000058, GO:1900181, GO:0090090, GO:0060644, GO:0051301, GO:0051220, GO:0046620, GO:0045736, GO:0043254, GO:0043065, GO:0035556, GO:0035329, GO:0035329, GO:0035329, GO:0034613, GO:0033146, GO:0033138, GO:0030833, GO:0030216, GO:0018105, GO:0017015, GO:0009755, GO:0006468, GO:0001828, GO:0001827, GO:0000819, GO:0000086, GO:0000082, regulation of ubiquitin-dependent protein catabolic process, negative regulation of protein localization to nucleus, negative regulation of canonical Wnt signaling pathway, mammary gland epithelial cell differentiation, cell division, cytoplasmic sequestering of protein, regulation of organ growth, negative regulation of cyclin-dependent protein serine/threonine kinase activity, regulation of protein-containing complex assembly, positive regulation of apoptotic process, intracellular signal transduction, hippo signaling, hippo signaling, hippo signaling, cellular protein localization, regulation of intracellular estrogen receptor signaling pathway, positive regulation of peptidyl-serine phosphorylation, regulation of actin filament polymerization, keratinocyte differentiation, peptidyl-serine phosphorylation, regulation of transforming growth factor beta receptor signaling pathway, hormone-mediated signaling pathway, protein phosphorylation, inner cell mass cellular morphogenesis, inner cell mass cell fate commitment, sister chromatid segregation, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 249 276 335 266 244 283 243 193 264 ENSG00000131037 chr19 55072020 55087923 + EPS8L1 protein_coding This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 54869 GO:0070062, GO:0032991, GO:0032587, GO:0032587, GO:0005886, GO:0005829, extracellular exosome, protein-containing complex, ruffle membrane, ruffle membrane, plasma membrane, cytosol, GO:0045296, GO:0042608, GO:0005515, GO:0005085, GO:0005085, GO:0003779, GO:0003779, cadherin binding, T cell receptor binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, actin binding, actin binding, GO:1900029, GO:1900029, GO:0035023, GO:0035023, GO:0007266, GO:0007266, positive regulation of ruffle assembly, positive regulation of ruffle assembly, regulation of Rho protein signal transduction, regulation of Rho protein signal transduction, Rho protein signal transduction, Rho protein signal transduction, 1 4 2 0 1 7 6 1 1 ENSG00000131042 chr19 54273821 54281184 - LILRB2 protein_coding This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10288 GO:0101003, GO:0070821, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005737, GO:0005615, ficolin-1-rich granule membrane, tertiary granule membrane, membrane, cell surface, integral component of plasma membrane, plasma membrane, cytoplasm, extracellular space, GO:0050839, GO:0044877, GO:0042803, GO:0042288, GO:0042288, GO:0032396, GO:0032396, GO:0023029, GO:0023029, GO:0023025, GO:0008157, GO:0005515, GO:0001540, GO:0001540, cell adhesion molecule binding, protein-containing complex binding, protein homodimerization activity, MHC class I protein binding, MHC class I protein binding, inhibitory MHC class I receptor activity, inhibitory MHC class I receptor activity, MHC class Ib protein binding, MHC class Ib protein binding, MHC class Ib protein complex binding, protein phosphatase 1 binding, protein binding, amyloid-beta binding, amyloid-beta binding, GO:2001198, GO:2000524, GO:1905875, GO:1900454, GO:1900271, GO:0140105, GO:0071222, GO:0051926, GO:0051248, GO:0050776, GO:0045591, GO:0043312, GO:0042130, GO:0042130, GO:0042102, GO:0035307, GO:0034113, GO:0032755, GO:0007611, GO:0007267, GO:0007166, GO:0007165, GO:0007165, GO:0006968, GO:0006955, GO:0002774, GO:0002767, GO:0002767, GO:0002666, GO:0002645, GO:0002578, GO:0002250, regulation of dendritic cell differentiation, negative regulation of T cell costimulation, negative regulation of postsynaptic density organization, positive regulation of long-term synaptic depression, regulation of long-term synaptic potentiation, interleukin-10-mediated signaling pathway, cellular response to lipopolysaccharide, negative regulation of calcium ion transport, negative regulation of protein metabolic process, regulation of immune response, positive regulation of regulatory T cell differentiation, neutrophil degranulation, negative regulation of T cell proliferation, negative regulation of T cell proliferation, positive regulation of T cell proliferation, positive regulation of protein dephosphorylation, heterotypic cell-cell adhesion, positive regulation of interleukin-6 production, learning or memory, cell-cell signaling, cell surface receptor signaling pathway, signal transduction, signal transduction, cellular defense response, immune response, Fc receptor mediated inhibitory signaling pathway, immune response-inhibiting cell surface receptor signaling pathway, immune response-inhibiting cell surface receptor signaling pathway, positive regulation of T cell tolerance induction, positive regulation of tolerance induction, negative regulation of antigen processing and presentation, adaptive immune response, 1774 889 1125 951 700 554 1075 470 432 ENSG00000131043 chr20 36236459 36270918 + AAR2 protein_coding This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]. 25980 GO:0005681, spliceosomal complex, GO:0000244, spliceosomal tri-snRNP complex assembly, 20 25 42 28 16 34 42 20 18 ENSG00000131044 chr20 31870702 31944963 + TTLL9 protein_coding 164395 GO:0005929, GO:0005874, GO:0005737, cilium, microtubule, cytoplasm, GO:0070740, GO:0015631, GO:0005524, tubulin-glutamic acid ligase activity, tubulin binding, ATP binding, GO:0030317, GO:0018095, GO:0000226, flagellated sperm motility, protein polyglutamylation, microtubule cytoskeleton organization, 1 5 1 4 6 0 2 2 0 ENSG00000131050 chr20 33161768 33181412 + BPIFA2 protein_coding This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 140683 GO:0070062, GO:0030141, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, secretory granule, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0001530, GO:0001530, protein binding, lipopolysaccharide binding, lipopolysaccharide binding, GO:0042742, GO:0019730, defense response to bacterium, antimicrobial humoral response, 0 0 0 1 0 0 0 0 0 ENSG00000131051 chr20 35701347 35742312 - RBM39 protein_coding This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011]. 9584 GO:0034451, GO:0032991, GO:0016607, GO:0016607, GO:0015630, GO:0005654, centriolar satellite, protein-containing complex, nuclear speck, nuclear speck, microtubule cytoskeleton, nucleoplasm, GO:0050733, GO:0005515, GO:0003723, RS domain binding, protein binding, RNA binding, GO:0048024, GO:0048024, GO:0008380, GO:0006397, GO:0006396, regulation of mRNA splicing, via spliceosome, regulation of mRNA splicing, via spliceosome, RNA splicing, mRNA processing, RNA processing, 9669 9346 12922 8616 10409 12329 8653 7377 9597 ENSG00000131055 chr20 31637888 31645006 + COX4I2 protein_coding Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]. 84701 GO:0016021, GO:0005751, GO:0005751, integral component of membrane, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex IV, GO:0004129, cytochrome-c oxidase activity, GO:1902600, GO:0071456, GO:0055114, GO:0045333, GO:0006123, GO:0006091, proton transmembrane transport, cellular response to hypoxia, oxidation-reduction process, cellular respiration, mitochondrial electron transport, cytochrome c to oxygen, generation of precursor metabolites and energy, 0 0 0 0 0 0 0 0 0 ENSG00000131059 chr20 33217310 33227758 + BPIFA3 protein_coding 128861 GO:0005576, extracellular region, GO:0008289, lipid binding, 0 0 0 0 0 0 0 0 0 ENSG00000131061 chr20 33731657 33792269 + ZNF341 protein_coding 84905 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003677, GO:0001216, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA binding, DNA-binding transcription activator activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0006357, GO:0006355, positive regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 129 141 134 79 168 92 110 98 105 ENSG00000131067 chr20 34844720 34872860 - GGT7 protein_coding This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008]. 2686 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0103068, GO:0102953, GO:0036374, GO:0005515, GO:0000048, leukotriene C4 gamma-glutamyl transferase activity, hypoglycin A gamma-glutamyl transpeptidase activity, glutathione hydrolase activity, protein binding, peptidyltransferase activity, GO:1902883, GO:1901750, GO:0034612, GO:0032496, GO:0032355, GO:0007283, GO:0006751, GO:0006750, GO:0006508, GO:0006412, negative regulation of response to oxidative stress, leukotriene D4 biosynthetic process, response to tumor necrosis factor, response to lipopolysaccharide, response to estradiol, spermatogenesis, glutathione catabolic process, glutathione biosynthetic process, proteolysis, translation, 22 39 41 71 28 71 54 18 47 ENSG00000131068 chr20 31368618 31373923 + DEFB118 protein_coding This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]. 117285 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0061844, GO:0051673, GO:0050829, GO:0045087, GO:0042742, GO:0031640, GO:0007283, GO:0007160, antimicrobial humoral immune response mediated by antimicrobial peptide, membrane disruption in other organism, defense response to Gram-negative bacterium, innate immune response, defense response to bacterium, killing of cells of other organism, spermatogenesis, cell-matrix adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000131069 chr20 34872146 34927962 + ACSS2 protein_coding This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. 55902 GO:0043231, GO:0005829, GO:0005829, GO:0005759, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, cytosol, cytosol, mitochondrial matrix, cytoplasm, nucleoplasm, GO:0050218, GO:0016208, GO:0005524, GO:0003987, GO:0003987, propionate-CoA ligase activity, AMP binding, ATP binding, acetate-CoA ligase activity, acetate-CoA ligase activity, GO:0019542, GO:0019427, GO:0019413, GO:0008610, GO:0006069, propionate biosynthetic process, acetyl-CoA biosynthetic process from acetate, acetate biosynthetic process, lipid biosynthetic process, ethanol oxidation, 345 428 481 419 559 558 442 404 466 ENSG00000131080 chrX 66595637 66639298 - EDA2R protein_coding The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]. 60401 GO:0016021, GO:0005887, GO:0005886, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0038023, GO:0005515, GO:0005031, signaling receptor activity, signaling receptor activity, protein binding, tumor necrosis factor-activated receptor activity, GO:0072332, GO:0051092, GO:0046330, GO:0046330, GO:0043123, GO:0033209, GO:0010668, GO:0008544, GO:0007275, intrinsic apoptotic signaling pathway by p53 class mediator, positive regulation of NF-kappaB transcription factor activity, positive regulation of JNK cascade, positive regulation of JNK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, ectodermal cell differentiation, epidermis development, multicellular organism development, 0 0 0 0 1 0 2 0 0 ENSG00000131089 chrX 63634967 63809274 - ARHGEF9 protein_coding The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 23229 GO:0014069, GO:0005829, GO:0005829, postsynaptic density, cytosol, cytosol, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0043065, GO:0007186, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, G protein-coupled receptor signaling pathway, 24 13 25 65 28 85 48 24 41 ENSG00000131094 chr17 44959693 44968071 - C1QL1 protein_coding 10882 GO:0098793, GO:0044301, GO:0043083, GO:0005737, GO:0005581, GO:0005575, presynapse, climbing fiber, synaptic cleft, cytoplasm, collagen trimer, cellular_component, GO:0005515, GO:0005102, GO:0003674, protein binding, signaling receptor binding, molecular_function, GO:0099558, GO:0061743, GO:0016322, GO:0007626, maintenance of synapse structure, motor learning, neuron remodeling, locomotory behavior, 2 0 0 0 0 0 0 0 0 ENSG00000131095 chr17 44903161 44916937 - GFAP protein_coding This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. 2670 GO:0045111, GO:0005882, GO:0005829, GO:0005764, GO:0005737, intermediate filament cytoskeleton, intermediate filament, cytosol, lysosome, cytoplasm, GO:0042802, GO:0005515, GO:0005200, identical protein binding, protein binding, structural constituent of cytoskeleton, GO:1904714, GO:1904714, GO:0045109, GO:0043254, regulation of chaperone-mediated autophagy, regulation of chaperone-mediated autophagy, intermediate filament organization, regulation of protein-containing complex assembly, 1 2 0 0 5 1 0 0 0 ENSG00000131096 chr17 43952738 44004469 - PYY protein_coding This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded preproprotein is proteolytically processed to generate two alternative peptide products that differ in length by three amino acids. These peptides, secreted by endocrine cells in the gut, exhibit different binding affinities for each of the neuropeptide Y receptors. Binding of the encoded peptides to these receptors mediates regulation of pancreatic secretion, gut mobility and energy homeostasis. Rare variations in this gene could increase susceptibility to obesity and elevated serum levels of the encoded peptides may be associated with anorexia nervosa. [provided by RefSeq, Feb 2016]. 5697 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005184, GO:0005179, GO:0001664, GO:0001664, protein binding, neuropeptide hormone activity, hormone activity, G protein-coupled receptor binding, G protein-coupled receptor binding, GO:0060575, GO:0007631, GO:0007218, GO:0007186, intestinal epithelial cell differentiation, feeding behavior, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000131097 chr17 44846353 44850480 + HIGD1B protein_coding This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 51751 GO:0016021, GO:0005739, integral component of membrane, mitochondrion, GO:0097250, mitochondrial respirasome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000131100 chr22 17592136 17628818 - ATP6V1E1 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]. 529 GO:0070062, GO:0033178, GO:0016469, GO:0016324, GO:0005902, GO:0005829, GO:0005829, GO:0005768, GO:0005765, extracellular exosome, proton-transporting two-sector ATPase complex, catalytic domain, proton-transporting two-sector ATPase complex, apical plasma membrane, microvillus, cytosol, cytosol, endosome, lysosomal membrane, GO:0051117, GO:0046961, GO:0016787, GO:0008553, GO:0005515, ATPase binding, proton-transporting ATPase activity, rotational mechanism, hydrolase activity, proton-exporting ATPase activity, phosphorylative mechanism, protein binding, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0016241, GO:0008286, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, 1176 1125 1248 426 838 575 595 757 529 ENSG00000131115 chr19 44207547 44237268 + ZNF227 protein_coding 7770 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 56 63 43 78 55 84 64 49 49 ENSG00000131116 chr19 43607219 43619874 - ZNF428 protein_coding 126299 GO:0046872, metal ion binding, 16 12 30 51 29 65 42 32 45 ENSG00000131126 chr19 43401496 43418597 + TEX101 protein_coding 83639 GO:0046658, GO:0046658, GO:0044853, GO:0005886, GO:0005886, GO:0005576, GO:0005576, GO:0002080, GO:0001669, anchored component of plasma membrane, anchored component of plasma membrane, plasma membrane raft, plasma membrane, plasma membrane, extracellular region, extracellular region, acrosomal membrane, acrosomal vesicle, GO:0005515, protein binding, GO:1901317, GO:1901317, GO:0030317, GO:0009566, GO:0007339, GO:0007339, regulation of flagellated sperm motility, regulation of flagellated sperm motility, flagellated sperm motility, fertilization, binding of sperm to zona pellucida, binding of sperm to zona pellucida, 0 0 0 0 1 0 0 0 0 ENSG00000131127 chr4 337814 384864 + ZNF141 protein_coding The protein encoded by this gene is a zinc finger protein that may be a tumor suppressor. Defects in this gene have been associated with autosomal recessive postaxial polydactyly type A. [provided by RefSeq, Jan 2017]. 7700 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0035108, GO:0009653, GO:0006366, GO:0006355, GO:0000122, limb morphogenesis, anatomical structure morphogenesis, transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 53 47 61 113 77 119 97 66 49 ENSG00000131142 chr19 8052767 8062650 + CCL25 protein_coding This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 6370 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0042379, GO:0031735, GO:0008009, GO:0008009, GO:0005515, GO:0005179, CCR chemokine receptor binding, chemokine receptor binding, CCR10 chemokine receptor binding, chemokine activity, chemokine activity, protein binding, hormone activity, GO:1903237, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0060326, GO:0048247, GO:0043547, GO:0030593, GO:0007186, GO:0007186, GO:0007186, GO:0007166, GO:0006955, GO:0006954, GO:0006935, GO:0002548, GO:0001954, negative regulation of leukocyte tethering or rolling, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, cell chemotaxis, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, immune response, inflammatory response, chemotaxis, monocyte chemotaxis, positive regulation of cell-matrix adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000131143 chr16 85798633 85807044 + COX4I1 protein_coding Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 1327 GO:0016021, GO:0016020, GO:0005829, GO:0005751, GO:0005751, GO:0005743, GO:0005743, GO:0005739, GO:0005739, GO:0005654, integral component of membrane, membrane, cytosol, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex IV, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0007584, GO:0006123, GO:0006123, GO:0006091, proton transmembrane transport, response to nutrient, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, generation of precursor metabolites and energy, 813 767 1062 638 586 840 524 613 648 ENSG00000131148 chr16 85771758 85799608 - EMC8 protein_coding 10328 GO:0072546, GO:0072546, GO:0016020, GO:0005829, GO:0005739, GO:0005737, GO:0005634, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, membrane, cytosol, mitochondrion, cytoplasm, nucleus, GO:0005515, protein binding, 47 64 57 81 84 92 87 72 61 ENSG00000131149 chr16 85169525 85676204 + GSE1 protein_coding This gene encodes a proline-rich protein with coiled coil domains that may be a subunit of a BRAF35-HDAC (BHC) histone deacetylase complex. This gene may function as an oncogene in breast cancer and enhanced expression of the encoded protein has been observed in breast cancer patients. [provided by RefSeq, May 2017]. 23199 GO:0005515, protein binding, 873 1019 1408 683 904 970 804 712 737 ENSG00000131152 chr16 87302876 87334273 - AC010531.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000131153 chr16 85676198 85690073 - GINS2 protein_coding The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]. 51659 GO:0071162, GO:0005654, GO:0000811, CMG complex, nucleoplasm, GINS complex, GO:0005515, protein binding, GO:0032508, GO:0006271, GO:0000727, DNA duplex unwinding, DNA strand elongation involved in DNA replication, double-strand break repair via break-induced replication, 2 2 5 0 3 2 0 0 0 ENSG00000131165 chr16 89644431 89657845 - CHMP1A protein_coding This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 5119 GO:0070062, GO:0016363, GO:0012505, GO:0005815, GO:0005771, GO:0005769, GO:0000815, GO:0000794, extracellular exosome, nuclear matrix, endomembrane system, microtubule organizing center, multivesicular body, early endosome, ESCRT III complex, condensed nuclear chromosome, GO:0042803, GO:0042802, GO:0019904, GO:0008270, GO:0008237, GO:0005515, protein homodimerization activity, identical protein binding, protein domain specific binding, zinc ion binding, metallopeptidase activity, protein binding, GO:1904903, GO:1901673, GO:0061952, GO:0051301, GO:0045892, GO:0045786, GO:0045324, GO:0039702, GO:0036258, GO:0032509, GO:0016458, GO:0016192, GO:0015031, GO:0010824, GO:0007080, GO:0007076, GO:0006997, GO:0006508, ESCRT III complex disassembly, regulation of mitotic spindle assembly, midbody abscission, cell division, negative regulation of transcription, DNA-templated, negative regulation of cell cycle, late endosome to vacuole transport, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, gene silencing, vesicle-mediated transport, protein transport, regulation of centrosome duplication, mitotic metaphase plate congression, mitotic chromosome condensation, nucleus organization, proteolysis, 1159 1043 1233 681 1048 1011 822 824 833 ENSG00000131171 chrX 81201943 81298547 + SH3BGRL protein_coding 6451 GO:0070062, GO:0005737, GO:0005634, GO:0005615, extracellular exosome, cytoplasm, nucleus, extracellular space, GO:0017124, SH3 domain binding, 1086 1159 1329 420 808 664 467 852 598 ENSG00000131174 chrX 77899438 77907373 + COX7B protein_coding Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]. 1349 GO:0045277, GO:0016021, GO:0005746, GO:0005743, respiratory chain complex IV, integral component of membrane, mitochondrial respirasome, mitochondrial inner membrane, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0007417, GO:0006123, proton transmembrane transport, central nervous system development, mitochondrial electron transport, cytochrome c to oxygen, 334 243 291 166 198 260 195 198 203 ENSG00000131183 chr5 177379235 177398848 + SLC34A1 protein_coding This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. 6569 GO:0072686, GO:0048471, GO:0045121, GO:0031982, GO:0031526, GO:0031526, GO:0016607, GO:0016324, GO:0016324, GO:0009986, GO:0005903, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005768, GO:0005654, mitotic spindle, perinuclear region of cytoplasm, membrane raft, vesicle, brush border membrane, brush border membrane, nuclear speck, apical plasma membrane, apical plasma membrane, cell surface, brush border, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, endosome, nucleoplasm, GO:0044877, GO:0042802, GO:0030165, GO:0005515, GO:0005436, GO:0005436, GO:0005436, protein-containing complex binding, identical protein binding, PDZ domain binding, protein binding, sodium:phosphate symporter activity, sodium:phosphate symporter activity, sodium:phosphate symporter activity, GO:2000187, GO:2000120, GO:1901684, GO:1901128, GO:0098719, GO:0097187, GO:0097066, GO:0072734, GO:0072350, GO:0071374, GO:0071248, GO:0060416, GO:0055062, GO:0046689, GO:0046686, GO:0045838, GO:0044341, GO:0044267, GO:0042493, GO:0042431, GO:0035864, GO:0035435, GO:0033189, GO:0032355, GO:0032026, GO:0030643, GO:0010288, GO:0009100, GO:0006817, GO:0001822, GO:0001503, positive regulation of phosphate transmembrane transport, positive regulation of sodium-dependent phosphate transport, arsenate ion transmembrane transport, gentamycin metabolic process, sodium ion import across plasma membrane, dentinogenesis, response to thyroid hormone, cellular response to staurosporine, tricarboxylic acid metabolic process, cellular response to parathyroid hormone stimulus, cellular response to metal ion, response to growth hormone, phosphate ion homeostasis, response to mercury ion, response to cadmium ion, positive regulation of membrane potential, sodium-dependent phosphate transport, cellular protein metabolic process, response to drug, indole metabolic process, response to potassium ion, phosphate ion transmembrane transport, response to vitamin A, response to estradiol, response to magnesium ion, cellular phosphate ion homeostasis, response to lead ion, glycoprotein metabolic process, phosphate ion transport, kidney development, ossification, 1 0 0 0 0 0 0 0 4 ENSG00000131187 chr5 177402140 177409576 - F12 protein_coding This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]. 2161 GO:0070062, GO:0062023, GO:0005886, GO:0005791, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, plasma membrane, rough endoplasmic reticulum, extracellular space, extracellular space, extracellular region, GO:0051787, GO:0005515, GO:0005509, GO:0004252, GO:0004252, misfolded protein binding, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0051919, GO:0051788, GO:0045087, GO:0042730, GO:0031638, GO:0031638, GO:0030194, GO:0016540, GO:0016485, GO:0010756, GO:0007597, GO:0007597, GO:0007596, GO:0006508, GO:0002542, GO:0002353, positive regulation of fibrinolysis, response to misfolded protein, innate immune response, fibrinolysis, zymogen activation, zymogen activation, positive regulation of blood coagulation, protein autoprocessing, protein processing, positive regulation of plasminogen activation, blood coagulation, intrinsic pathway, blood coagulation, intrinsic pathway, blood coagulation, proteolysis, Factor XII activation, plasma kallikrein-kinin cascade, 50 116 77 41 142 58 53 93 96 ENSG00000131188 chr5 177446445 177456286 + PRR7 protein_coding 80758 GO:0098839, GO:0048471, GO:0030425, GO:0016021, GO:0005886, GO:0005634, postsynaptic density membrane, perinuclear region of cytoplasm, dendrite, integral component of membrane, plasma membrane, nucleus, GO:1990782, GO:0044877, GO:0044389, GO:0036041, GO:0005515, protein tyrosine kinase binding, protein-containing complex binding, ubiquitin-like protein ligase binding, long-chain fatty acid binding, protein binding, GO:2001269, GO:0043065, GO:0031397, GO:0010942, GO:0002250, positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, positive regulation of apoptotic process, negative regulation of protein ubiquitination, positive regulation of cell death, adaptive immune response, 399 385 602 323 448 577 480 552 606 ENSG00000131196 chr18 79395856 79529325 + NFATC1 protein_coding The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]. 4772 GO:0016604, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, nuclear body, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0048273, GO:0008134, GO:0005528, GO:0005515, GO:0001228, GO:0001225, GO:0001085, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, mitogen-activated protein kinase p38 binding, transcription factor binding, FK506 binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription coactivator binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1905064, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0038095, GO:0035556, GO:0033173, GO:0033173, GO:0030178, GO:0007223, GO:0006357, GO:0003184, GO:0003180, GO:0001816, negative regulation of vascular associated smooth muscle cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, Fc-epsilon receptor signaling pathway, intracellular signal transduction, calcineurin-NFAT signaling cascade, calcineurin-NFAT signaling cascade, negative regulation of Wnt signaling pathway, Wnt signaling pathway, calcium modulating pathway, regulation of transcription by RNA polymerase II, pulmonary valve morphogenesis, aortic valve morphogenesis, cytokine production, 200 189 369 75 92 146 149 123 155 ENSG00000131203 chr8 39902275 39928444 + IDO1 protein_coding This gene encodes indoleamine 2,3-dioxygenase (IDO) - a heme enzyme that catalyzes the first and rate-limiting step in tryptophan catabolism to N-formyl-kynurenine. This enzyme acts on multiple tryptophan substrates including D-tryptophan, L-tryptophan, 5-hydroxy-tryptophan, tryptamine, and serotonin. This enzyme is thought to play a role in a variety of pathophysiological processes such as antimicrobial and antitumor defense, neuropathology, immunoregulation, and antioxidant activity. Through its expression in dendritic cells, monocytes, and macrophages this enzyme modulates T-cell behavior by its peri-cellular catabolization of the essential amino acid tryptophan.[provided by RefSeq, Feb 2011]. 3620 GO:0032421, GO:0030485, GO:0005829, GO:0005737, stereocilium bundle, smooth muscle contractile fiber, cytosol, cytoplasm, GO:0046872, GO:0033754, GO:0033754, GO:0020037, GO:0009055, GO:0004833, metal ion binding, indoleamine 2,3-dioxygenase activity, indoleamine 2,3-dioxygenase activity, heme binding, electron transfer activity, tryptophan 2,3-dioxygenase activity, GO:0070234, GO:0070233, GO:0046006, GO:0042130, GO:0036269, GO:0034354, GO:0034276, GO:0033555, GO:0032735, GO:0032693, GO:0032496, GO:0022900, GO:0019441, GO:0019441, GO:0007565, GO:0006569, GO:0002830, GO:0002678, GO:0002666, GO:0002534, GO:0002376, positive regulation of T cell apoptotic process, negative regulation of T cell apoptotic process, regulation of activated T cell proliferation, negative regulation of T cell proliferation, swimming behavior, 'de novo' NAD biosynthetic process from tryptophan, kynurenic acid biosynthetic process, multicellular organismal response to stress, positive regulation of interleukin-12 production, negative regulation of interleukin-10 production, response to lipopolysaccharide, electron transport chain, tryptophan catabolic process to kynurenine, tryptophan catabolic process to kynurenine, female pregnancy, tryptophan catabolic process, positive regulation of type 2 immune response, positive regulation of chronic inflammatory response, positive regulation of T cell tolerance induction, cytokine production involved in inflammatory response, immune system process, 7 31 48 0 4 9 1 7 1 ENSG00000131233 chr1 38874451 38881587 - GJA9 protein_coding Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]. 81025 GO:0016021, GO:0005922, integral component of membrane, connexin complex, GO:0005243, gap junction channel activity, GO:0055085, GO:0007267, transmembrane transport, cell-cell signaling, 0 0 0 0 0 3 0 0 7 ENSG00000131236 chr1 40040233 40072649 + CAP1 protein_coding The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2016]. 10487 GO:0070062, GO:0035578, GO:0005925, GO:0005886, GO:0005737, GO:0005576, extracellular exosome, azurophil granule lumen, focal adhesion, plasma membrane, cytoplasm, extracellular region, GO:0008179, GO:0003779, adenylate cyclase binding, actin binding, GO:0045761, GO:0043312, GO:0019933, GO:0007190, GO:0007165, GO:0006898, GO:0001667, GO:0000902, regulation of adenylate cyclase activity, neutrophil degranulation, cAMP-mediated signaling, activation of adenylate cyclase activity, signal transduction, receptor-mediated endocytosis, ameboidal-type cell migration, cell morphogenesis, 11599 8551 12666 2389 4685 4173 3126 4574 3626 ENSG00000131238 chr1 40071461 40097727 - PPT1 protein_coding The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]. 5538 GO:0070062, GO:0045121, GO:0043231, GO:0043231, GO:0043202, GO:0043025, GO:0030425, GO:0030424, GO:0016020, GO:0008021, GO:0005829, GO:0005794, GO:0005764, GO:0005764, GO:0005764, GO:0005634, GO:0005576, GO:0005576, extracellular exosome, membrane raft, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, lysosomal lumen, neuronal cell body, dendrite, axon, membrane, synaptic vesicle, cytosol, Golgi apparatus, lysosome, lysosome, lysosome, nucleus, extracellular region, extracellular region, GO:0120146, GO:0035727, GO:0016790, GO:0016290, GO:0016290, GO:0008474, GO:0008474, GO:0008474, GO:0008474, GO:0008474, GO:0005515, sulfatide binding, lysophosphatidic acid binding, thiolester hydrolase activity, palmitoyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, protein binding, GO:0050896, GO:0050803, GO:0048666, GO:0048549, GO:0048260, GO:0046949, GO:0044257, GO:0043524, GO:0043066, GO:0032429, GO:0031579, GO:0030308, GO:0030163, GO:0030149, GO:0016042, GO:0015031, GO:0008344, GO:0008306, GO:0007625, GO:0007601, GO:0007420, GO:0007399, GO:0007399, GO:0007269, GO:0007042, GO:0006907, GO:0006898, GO:0006898, GO:0002084, GO:0002084, GO:0002084, response to stimulus, regulation of synapse structure or activity, neuron development, positive regulation of pinocytosis, positive regulation of receptor-mediated endocytosis, fatty-acyl-CoA biosynthetic process, cellular protein catabolic process, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, regulation of phospholipase A2 activity, membrane raft organization, negative regulation of cell growth, protein catabolic process, sphingolipid catabolic process, lipid catabolic process, protein transport, adult locomotory behavior, associative learning, grooming behavior, visual perception, brain development, nervous system development, nervous system development, neurotransmitter secretion, lysosomal lumen acidification, pinocytosis, receptor-mediated endocytosis, receptor-mediated endocytosis, protein depalmitoylation, protein depalmitoylation, protein depalmitoylation, 9606 6086 9326 2031 3788 2875 2833 3538 2793 ENSG00000131242 chr17 31391624 31538217 + RAB11FIP4 protein_coding The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]. 84440 GO:0055038, GO:0055038, GO:0048471, GO:0032154, GO:0032154, GO:0030496, GO:0030496, GO:0030139, GO:0030139, GO:0005819, GO:0005813, GO:0005768, GO:0005615, recycling endosome membrane, recycling endosome membrane, perinuclear region of cytoplasm, cleavage furrow, cleavage furrow, midbody, midbody, endocytic vesicle, endocytic vesicle, spindle, centrosome, endosome, extracellular space, GO:0042803, GO:0031267, GO:0031267, GO:0005515, GO:0005509, protein homodimerization activity, small GTPase binding, small GTPase binding, protein binding, calcium ion binding, GO:1903452, GO:0032465, GO:0032465, GO:0032456, GO:0016032, GO:0003407, positive regulation of G1 to G0 transition, regulation of cytokinesis, regulation of cytokinesis, endocytic recycling, viral process, neural retina development, 2082 1870 2713 970 1527 1382 1013 1031 1049 ENSG00000131263 chrX 74585217 74614617 - RLIM protein_coding The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]. 51132 GO:0017053, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, transcription repressor complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0061630, GO:0046872, GO:0004842, GO:0003714, ubiquitin protein ligase activity, metal ion binding, ubiquitin-protein transferase activity, transcription corepressor activity, GO:1900095, GO:0060816, GO:0060816, GO:0045892, GO:0043433, GO:0016567, GO:0016567, GO:0006511, GO:0006511, GO:0000209, GO:0000122, regulation of dosage compensation by inactivation of X chromosome, random inactivation of X chromosome, random inactivation of X chromosome, negative regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 3315 3511 4118 2974 3857 4640 3400 2685 3405 ENSG00000131264 chrX 73447254 73455245 + CDX4 protein_coding This gene encodes a member of a small subfamily of homeobox containing transcription factors. The encoded protein may regulate homeobox gene expression during anteroposterior patterning and hematopoiesis. [provided by RefSeq, Aug 2012]. 1046 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060711, GO:0045944, GO:0045944, GO:0030154, GO:0009948, GO:0009887, GO:0009790, GO:0006357, GO:0001568, GO:0000122, labyrinthine layer development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cell differentiation, anterior/posterior axis specification, animal organ morphogenesis, embryo development, regulation of transcription by RNA polymerase II, blood vessel development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000131269 chrX 75051554 75156732 - ABCB7 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]. 22 GO:0016021, GO:0016021, GO:0005743, GO:0005743, GO:0005743, integral component of membrane, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, GO:0042626, GO:0016887, GO:0015232, GO:0005524, GO:0005515, ATPase-coupled transmembrane transporter activity, ATPase activity, heme transmembrane transporter activity, ATP binding, protein binding, GO:0055085, GO:0055085, GO:0015886, GO:0006879, transmembrane transport, transmembrane transport, heme transport, cellular iron ion homeostasis, 34 29 43 40 47 95 72 45 46 ENSG00000131323 chr14 102777476 102911500 + TRAF3 protein_coding The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. The protein also plays a role in the regulation of antiviral response. Mutations in this are associated with Encephalopathy, acute, infection-induced, herpes-specific 5. [provided by RefSeq, Jul 2020]. 7187 GO:0098802, GO:0035631, GO:0009898, GO:0009898, GO:0005829, GO:0005768, GO:0005739, plasma membrane signaling receptor complex, CD40 receptor complex, cytoplasmic side of plasma membrane, cytoplasmic side of plasma membrane, cytosol, endosome, mitochondrion, GO:0042802, GO:0031996, GO:0031625, GO:0031625, GO:0019903, GO:0019901, GO:0008270, GO:0005515, GO:0005164, GO:0005164, GO:0004842, GO:0004842, identical protein binding, thioesterase binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein phosphatase binding, protein kinase binding, zinc ion binding, protein binding, tumor necrosis factor receptor binding, tumor necrosis factor receptor binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0070534, GO:0050688, GO:0046330, GO:0045087, GO:0043122, GO:0042981, GO:0035666, GO:0033209, GO:0033209, GO:0033209, GO:0032648, GO:0032088, GO:0032088, GO:0030162, GO:0016579, GO:0008063, GO:0007165, GO:0006915, GO:0002224, GO:0001817, protein K63-linked ubiquitination, regulation of defense response to virus, positive regulation of JNK cascade, innate immune response, regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, TRIF-dependent toll-like receptor signaling pathway, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, regulation of interferon-beta production, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, regulation of proteolysis, protein deubiquitination, Toll signaling pathway, signal transduction, apoptotic process, toll-like receptor signaling pathway, regulation of cytokine production, 462 361 600 386 334 368 480 219 269 ENSG00000131351 chr19 17049729 17075625 - HAUS8 protein_coding HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]. 93323 GO:0070652, GO:0005880, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0000922, HAUS complex, nuclear microtubule, cytosol, centrosome, centrosome, cytoplasm, spindle pole, GO:0008017, GO:0005515, GO:0003674, microtubule binding, protein binding, molecular_function, GO:0097711, GO:0051301, GO:0051225, GO:0051225, GO:0010389, GO:0007098, GO:0007098, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, spindle assembly, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, centrosome cycle, G2/M transition of mitotic cell cycle, 108 75 90 50 48 62 49 45 27 ENSG00000131355 chr19 14619117 14690027 - ADGRE3 protein_coding This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]. 84658 GO:0101003, GO:0030667, GO:0016021, GO:0005887, GO:0005886, GO:0005576, ficolin-1-rich granule membrane, secretory granule membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0005509, GO:0004930, calcium ion binding, G protein-coupled receptor activity, GO:0043312, GO:0007189, GO:0007186, GO:0007166, neutrophil degranulation, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 3911 3245 4403 1172 2097 1719 1788 1879 1846 ENSG00000131368 chr3 15042460 15065335 - MRPS25 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 64432 GO:0005840, GO:0005743, GO:0005739, GO:0005739, ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, structural constituent of ribosome, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 274 249 395 329 323 392 315 223 379 ENSG00000131370 chr3 15254853 15341368 - SH3BP5 protein_coding 9467 GO:0030659, GO:0016604, GO:0005739, GO:0005737, GO:0005654, cytoplasmic vesicle membrane, nuclear body, mitochondrion, cytoplasm, nucleoplasm, GO:0017124, GO:0005515, GO:0005085, GO:0004860, GO:0004860, SH3 domain binding, protein binding, guanyl-nucleotide exchange factor activity, protein kinase inhibitor activity, protein kinase inhibitor activity, GO:0061099, GO:0035556, GO:0035556, GO:0007165, negative regulation of protein tyrosine kinase activity, intracellular signal transduction, intracellular signal transduction, signal transduction, 876 1126 2547 589 1008 1179 675 847 1060 ENSG00000131373 chr3 15560704 15601852 - HACL1 protein_coding 26061 GO:0043231, GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005654, intracellular membrane-bounded organelle, cytosol, peroxisomal matrix, peroxisome, peroxisome, nucleoplasm, GO:0042802, GO:0030976, GO:0030976, GO:0016830, GO:0016830, GO:0005524, GO:0005515, GO:0000287, identical protein binding, thiamine pyrophosphate binding, thiamine pyrophosphate binding, carbon-carbon lyase activity, carbon-carbon lyase activity, ATP binding, protein binding, magnesium ion binding, GO:1903512, GO:0097089, GO:0006631, GO:0006625, GO:0006625, GO:0001561, GO:0001561, GO:0001561, phytanic acid metabolic process, methyl-branched fatty acid metabolic process, fatty acid metabolic process, protein targeting to peroxisome, protein targeting to peroxisome, fatty acid alpha-oxidation, fatty acid alpha-oxidation, fatty acid alpha-oxidation, 43 38 83 34 54 63 48 33 35 ENSG00000131374 chr3 17157162 18444817 - TBC1D5 protein_coding 9779 GO:1990316, GO:0043231, GO:0030904, GO:0030122, GO:0010008, GO:0005829, GO:0005794, GO:0005776, Atg1/ULK1 kinase complex, intracellular membrane-bounded organelle, retromer complex, AP-2 adaptor complex, endosome membrane, cytosol, Golgi apparatus, autophagosome, GO:1905394, GO:0044877, GO:0035612, GO:0031267, GO:0005515, GO:0005096, retromer complex binding, protein-containing complex binding, AP-2 adaptor complex binding, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0042594, GO:0042147, GO:0016236, GO:0006914, GO:0006886, GO:0002092, regulation of cilium assembly, activation of GTPase activity, response to starvation, retrograde transport, endosome to Golgi, macroautophagy, autophagy, intracellular protein transport, positive regulation of receptor internalization, 595 556 690 286 372 418 279 374 382 ENSG00000131375 chr3 15206152 15252918 + CAPN7 protein_coding Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]. 23473 GO:0070062, GO:0005634, extracellular exosome, nucleus, GO:0090541, GO:0005515, GO:0004198, GO:0004175, MIT domain binding, protein binding, calcium-dependent cysteine-type endopeptidase activity, endopeptidase activity, GO:0097264, GO:0010634, self proteolysis, positive regulation of epithelial cell migration, 451 435 654 297 381 434 297 368 297 ENSG00000131378 chr3 16313574 16514026 - RFTN1 protein_coding 23180 GO:0070062, GO:0045121, GO:0032991, GO:0005886, GO:0005769, GO:0005768, GO:0005737, extracellular exosome, membrane raft, protein-containing complex, plasma membrane, early endosome, endosome, cytoplasm, GO:0003725, double-stranded RNA binding, GO:1903044, GO:0050853, GO:0050852, GO:0043330, GO:0040010, GO:0034138, GO:0033227, GO:0032620, GO:0032596, GO:0002457, GO:0001765, protein localization to membrane raft, B cell receptor signaling pathway, T cell receptor signaling pathway, response to exogenous dsRNA, positive regulation of growth rate, toll-like receptor 3 signaling pathway, dsRNA transport, interleukin-17 production, protein transport into membrane raft, T cell antigen processing and presentation, membrane raft assembly, 51 33 108 151 60 149 141 37 111 ENSG00000131379 chr3 14675099 14773034 + C3orf20 protein_coding 84077 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, 4 25 13 16 35 25 9 17 23 ENSG00000131381 chr3 15070073 15099163 - RBSN protein_coding This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 64145 GO:0070062, GO:0043231, GO:0031901, GO:0010008, GO:0005886, GO:0005829, GO:0005768, extracellular exosome, intracellular membrane-bounded organelle, early endosome membrane, endosome membrane, plasma membrane, cytosol, endosome, GO:0031267, GO:0008270, GO:0005515, small GTPase binding, zinc ion binding, protein binding, GO:1903358, GO:0090160, GO:0034498, GO:0016197, GO:0015031, GO:0007596, regulation of Golgi organization, Golgi to lysosome transport, early endosome to Golgi transport, endosomal transport, protein transport, blood coagulation, 551 521 691 330 665 585 440 420 426 ENSG00000131386 chr3 16174649 16231992 + GALNT15 protein_coding 117248 GO:0030133, GO:0016021, GO:0005794, GO:0000139, transport vesicle, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0005515, GO:0004653, metal ion binding, carbohydrate binding, protein binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, O-glycan processing, 1 0 0 1 0 0 0 0 0 ENSG00000131389 chr3 14402576 14489349 + SLC6A6 protein_coding This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 6533 GO:0098797, GO:0043025, GO:0031528, GO:0030425, GO:0016324, GO:0016323, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005886, plasma membrane protein complex, neuronal cell body, microvillus membrane, dendrite, apical plasma membrane, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0022858, GO:0015185, GO:0015171, GO:0015171, GO:0005369, GO:0005368, GO:0005368, GO:0005368, alanine transmembrane transporter activity, gamma-aminobutyric acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, taurine:sodium symporter activity, taurine transmembrane transporter activity, taurine transmembrane transporter activity, taurine transmembrane transporter activity, GO:0150104, GO:0098739, GO:0089718, GO:0071705, GO:0051939, GO:0045597, GO:0035725, GO:0032328, GO:0015734, GO:0015734, GO:0015734, GO:0015734, GO:0015734, GO:0010940, GO:0006865, GO:0006836, transport across blood-brain barrier, import across plasma membrane, amino acid import across plasma membrane, nitrogen compound transport, gamma-aminobutyric acid import, positive regulation of cell differentiation, sodium ion transmembrane transport, alanine transport, taurine transport, taurine transport, taurine transport, taurine transport, taurine transport, positive regulation of necrotic cell death, amino acid transport, neurotransmitter transport, 11714 13961 15308 5226 11695 8079 6526 8834 7279 ENSG00000131398 chr19 50311937 50333515 - KCNC3 protein_coding The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]. 3748 GO:0045211, GO:0043204, GO:0042734, GO:0032809, GO:0032591, GO:0032590, GO:0030424, GO:0016021, GO:0008076, GO:0008076, GO:0005938, GO:0005886, GO:0005886, GO:0005856, postsynaptic membrane, perikaryon, presynaptic membrane, neuronal cell body membrane, dendritic spine membrane, dendrite membrane, axon, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, cell cortex, plasma membrane, plasma membrane, cytoskeleton, GO:0005251, GO:0005249, GO:0005249, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0051262, GO:0051260, GO:0034765, potassium ion transmembrane transport, potassium ion transmembrane transport, protein tetramerization, protein homooligomerization, regulation of ion transmembrane transport, 3 4 2 6 6 10 14 4 3 ENSG00000131400 chr19 50358477 50365830 - NAPSA protein_coding This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]. 9476 GO:0097486, GO:0097208, GO:0070062, GO:0005764, GO:0005764, GO:0005615, multivesicular body lumen, alveolar lamellar body, extracellular exosome, lysosome, lysosome, extracellular space, GO:0008233, GO:0005515, GO:0004190, GO:0004175, peptidase activity, protein binding, aspartic-type endopeptidase activity, endopeptidase activity, GO:0044267, GO:0043129, GO:0033619, GO:0006508, cellular protein metabolic process, surfactant homeostasis, membrane protein proteolysis, proteolysis, 9 8 7 13 9 8 14 12 14 ENSG00000131401 chr19 50333796 50344767 - NAPSB transcribed_unprocessed_pseudogene 256236 7 6 14 36 25 36 22 15 34 ENSG00000131408 chr19 50329653 50382982 + NR1H2 protein_coding The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]. 7376 GO:0005737, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0051117, GO:0046965, GO:0034191, GO:0008270, GO:0005515, GO:0004879, GO:0003677, GO:0001228, GO:0000981, GO:0000978, GO:0000978, ATPase binding, retinoid X receptor binding, apolipoprotein A-I receptor binding, zinc ion binding, protein binding, nuclear receptor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903573, GO:0120163, GO:0090340, GO:0090187, GO:0090108, GO:0060336, GO:0051006, GO:0048550, GO:0048384, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045861, GO:0045723, GO:0042632, GO:0036151, GO:0032376, GO:0032369, GO:0032270, GO:0031667, GO:0030154, GO:0010887, GO:0010884, GO:0010875, GO:0010867, GO:0010745, GO:0006367, GO:0000122, negative regulation of response to endoplasmic reticulum stress, negative regulation of cold-induced thermogenesis, positive regulation of secretion of lysosomal enzymes, positive regulation of pancreatic juice secretion, positive regulation of high-density lipoprotein particle assembly, negative regulation of interferon-gamma-mediated signaling pathway, positive regulation of lipoprotein lipase activity, negative regulation of pinocytosis, retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of proteolysis, positive regulation of fatty acid biosynthetic process, cholesterol homeostasis, phosphatidylcholine acyl-chain remodeling, positive regulation of cholesterol transport, negative regulation of lipid transport, positive regulation of cellular protein metabolic process, response to nutrient levels, cell differentiation, negative regulation of cholesterol storage, positive regulation of lipid storage, positive regulation of cholesterol efflux, positive regulation of triglyceride biosynthetic process, negative regulation of macrophage derived foam cell differentiation, transcription initiation from RNA polymerase II promoter, negative regulation of transcription by RNA polymerase II, 1866 2123 2491 1358 1784 1811 1466 1378 1267 ENSG00000131409 chr19 50516892 50568045 - LRRC4B protein_coding 94030 GO:0099061, GO:0098978, GO:0044300, GO:0042734, GO:0005886, integral component of postsynaptic density membrane, glutamatergic synapse, cerebellar mossy fiber, presynaptic membrane, plasma membrane, GO:0005102, signaling receptor binding, GO:1905606, GO:0099560, GO:0051965, regulation of presynapse assembly, synaptic membrane adhesion, positive regulation of synapse assembly, 0 0 2 1 3 13 0 0 0 ENSG00000131435 chr5 132257671 132273454 + PDLIM4 protein_coding This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]. 8572 GO:0055038, GO:0048471, GO:0045211, GO:0043197, GO:0034777, GO:0031941, GO:0031941, GO:0031905, GO:0031901, GO:0030027, GO:0030018, GO:0005912, GO:0005856, GO:0005737, GO:0005634, GO:0001725, GO:0001725, recycling endosome membrane, perinuclear region of cytoplasm, postsynaptic membrane, dendritic spine, recycling endosome lumen, filamentous actin, filamentous actin, early endosome lumen, early endosome membrane, lamellipodium, Z disc, adherens junction, cytoskeleton, cytoplasm, nucleus, stress fiber, stress fiber, GO:0051393, GO:0051371, GO:0046872, GO:0042803, GO:0019903, GO:0005515, GO:0003779, alpha-actinin binding, muscle alpha-actinin binding, metal ion binding, protein homodimerization activity, protein phosphatase binding, protein binding, actin binding, GO:0098976, GO:0061061, GO:0031532, GO:0030036, GO:0007507, excitatory chemical synaptic transmission, muscle structure development, actin cytoskeleton reorganization, actin cytoskeleton organization, heart development, 0 6 2 0 0 2 4 1 1 ENSG00000131437 chr5 132692628 132737638 - KIF3A protein_coding 11127 GO:1904115, GO:0097542, GO:0070062, GO:0016939, GO:0015630, GO:0005929, GO:0005929, GO:0005876, GO:0005874, GO:0005871, GO:0005829, GO:0005814, GO:0005813, axon cytoplasm, ciliary tip, extracellular exosome, kinesin II complex, microtubule cytoskeleton, cilium, cilium, spindle microtubule, microtubule, kinesin complex, cytosol, centriole, centrosome, GO:0031267, GO:0030507, GO:0019903, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0005515, GO:0003777, small GTPase binding, spectrin binding, protein phosphatase binding, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:1902414, GO:0072383, GO:0060271, GO:0060271, GO:0035735, GO:0034454, GO:0019886, GO:0015031, GO:0010457, GO:0008089, GO:0007018, GO:0007018, GO:0006996, GO:0006890, protein localization to cell junction, plus-end-directed vesicle transport along microtubule, cilium assembly, cilium assembly, intraciliary transport involved in cilium assembly, microtubule anchoring at centrosome, antigen processing and presentation of exogenous peptide antigen via MHC class II, protein transport, centriole-centriole cohesion, anterograde axonal transport, microtubule-based movement, microtubule-based movement, organelle organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 23 16 57 52 31 72 42 15 37 ENSG00000131446 chr5 180784782 180815652 - MGAT1 protein_coding There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 4245 GO:1903561, GO:0070062, GO:0048471, GO:0016021, GO:0016020, GO:0005794, GO:0000139, GO:0000139, extracellular vesicle, extracellular exosome, perinuclear region of cytoplasm, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, Golgi membrane, GO:0030145, GO:0005515, GO:0003827, GO:0003827, GO:0003827, manganese ion binding, protein binding, alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity, alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity, alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity, GO:0018279, GO:0006487, GO:0006486, GO:0006049, GO:0001701, protein N-linked glycosylation via asparagine, protein N-linked glycosylation, protein glycosylation, UDP-N-acetylglucosamine catabolic process, in utero embryonic development, 1866 1890 1735 869 1375 1065 1142 1266 955 ENSG00000131459 chr5 180300690 180353387 - GFPT2 protein_coding 9945 GO:0005829, cytosol, GO:0097367, GO:0005515, GO:0004360, carbohydrate derivative binding, protein binding, glutamine-fructose-6-phosphate transaminase (isomerizing) activity, GO:0006541, GO:0006487, GO:0006112, GO:0006048, GO:0006048, GO:0006047, GO:0006002, glutamine metabolic process, protein N-linked glycosylation, energy reserve metabolic process, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine metabolic process, fructose 6-phosphate metabolic process, 4 2 7 5 0 1 5 1 8 ENSG00000131462 chr17 42609676 42615234 + TUBG1 protein_coding This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009]. 7283 GO:0097730, GO:0055037, GO:0045177, GO:0036064, GO:0031252, GO:0005881, GO:0005874, GO:0005829, GO:0005827, GO:0005819, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0000930, GO:0000930, GO:0000794, GO:0000242, non-motile cilium, recycling endosome, apical part of cell, ciliary basal body, cell leading edge, cytoplasmic microtubule, microtubule, cytosol, polar microtubule, spindle, centriole, centrosome, centrosome, cytoplasm, cytoplasm, cytoplasm, nucleus, gamma-tubulin complex, gamma-tubulin complex, condensed nuclear chromosome, pericentriolar material, GO:0042802, GO:0005525, GO:0005515, GO:0005200, GO:0003924, identical protein binding, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, GO:0097711, GO:0031122, GO:0010389, GO:0007052, GO:0007020, GO:0000278, GO:0000226, GO:0000212, GO:0000212, GO:0000086, GO:0000070, ciliary basal body-plasma membrane docking, cytoplasmic microtubule organization, regulation of G2/M transition of mitotic cell cycle, mitotic spindle organization, microtubule nucleation, mitotic cell cycle, microtubule cytoskeleton organization, meiotic spindle organization, meiotic spindle organization, G2/M transition of mitotic cell cycle, mitotic sister chromatid segregation, 4 0 4 9 0 9 2 0 4 ENSG00000131467 chr17 42824385 42843758 + PSME3 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]. 10197 GO:0016020, GO:0008537, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000502, membrane, proteasome activator complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, proteasome complex, GO:0097371, GO:0061133, GO:0061133, GO:0042802, GO:0005515, GO:0002039, MDM2/MDM4 family protein binding, endopeptidase activator activity, endopeptidase activator activity, identical protein binding, protein binding, p53 binding, GO:2001237, GO:2000045, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0061136, GO:0061136, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010950, GO:0007049, GO:0006915, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, negative regulation of extrinsic apoptotic signaling pathway, regulation of G1/S transition of mitotic cell cycle, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of proteasomal protein catabolic process, regulation of proteasomal protein catabolic process, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, positive regulation of endopeptidase activity, cell cycle, apoptotic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 1924 2079 2316 758 1363 1046 998 1316 876 ENSG00000131469 chr17 42998273 43002959 + RPL27 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]. 6155 GO:1990904, GO:0098556, GO:0070062, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005840, GO:0005829, GO:0005634, ribonucleoprotein complex, cytoplasmic side of rough endoplasmic reticulum membrane, extracellular exosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, ribosome, cytosol, nucleus, GO:0005515, GO:0003735, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:1904044, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0000184, response to aldosterone, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 590 428 712 1361 587 1457 781 581 1082 ENSG00000131470 chr17 42572315 42577831 - PSMC3IP protein_coding This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]. 29893 GO:0005654, nucleoplasm, GO:0030374, GO:0003677, nuclear receptor coactivator activity, DNA binding, GO:1903508, GO:0007131, positive regulation of nucleic acid-templated transcription, reciprocal meiotic recombination, 117 120 107 98 155 137 115 148 98 ENSG00000131471 chr17 42851184 42858130 + AOC3 protein_coding This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. 8639 GO:0016021, GO:0009986, GO:0005902, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005794, GO:0005783, GO:0005783, GO:0005769, GO:0005769, GO:0005737, integral component of membrane, cell surface, microvillus, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, early endosome, early endosome, cytoplasm, GO:0052596, GO:0052595, GO:0052594, GO:0052593, GO:0048038, GO:0046982, GO:0042802, GO:0008131, GO:0008131, GO:0005515, GO:0005509, GO:0005507, GO:0005507, phenethylamine:oxygen oxidoreductase (deaminating) activity, aliphatic-amine oxidase activity, aminoacetone:oxygen oxidoreductase(deaminating) activity, tryptamine:oxygen oxidoreductase (deaminating) activity, quinone binding, protein heterodimerization activity, identical protein binding, primary amine oxidase activity, primary amine oxidase activity, protein binding, calcium ion binding, copper ion binding, copper ion binding, GO:1902283, GO:1902283, GO:0055114, GO:0046677, GO:0046677, GO:0009308, GO:0009308, GO:0007155, GO:0006954, GO:0006805, negative regulation of primary amine oxidase activity, negative regulation of primary amine oxidase activity, oxidation-reduction process, response to antibiotic, response to antibiotic, amine metabolic process, amine metabolic process, cell adhesion, inflammatory response, xenobiotic metabolic process, 258 292 264 595 668 624 491 441 421 ENSG00000131473 chr17 41866908 41930542 - ACLY protein_coding ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]. 47 GO:1904813, GO:0070062, GO:0035578, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, azurophil granule lumen, membrane, plasma membrane, cytosol, cytosol, cytosol, nucleoplasm, extracellular region, GO:0046872, GO:0005524, GO:0005515, GO:0003878, GO:0003878, GO:0003878, metal ion binding, ATP binding, protein binding, ATP citrate synthase activity, ATP citrate synthase activity, ATP citrate synthase activity, GO:0046949, GO:0043312, GO:0031325, GO:0015936, GO:0008610, GO:0006695, GO:0006633, GO:0006107, GO:0006101, GO:0006085, GO:0006085, fatty-acyl-CoA biosynthetic process, neutrophil degranulation, positive regulation of cellular metabolic process, coenzyme A metabolic process, lipid biosynthetic process, cholesterol biosynthetic process, fatty acid biosynthetic process, oxaloacetate metabolic process, citrate metabolic process, acetyl-CoA biosynthetic process, acetyl-CoA biosynthetic process, 657 676 761 424 498 529 444 386 493 ENSG00000131475 chr17 42773436 42779599 + VPS25 protein_coding This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013]. 84313 GO:0070062, GO:0010008, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000814, GO:0000814, GO:0000814, extracellular exosome, endosome membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, ESCRT II complex, ESCRT II complex, ESCRT II complex, GO:0047485, GO:0042803, GO:0042803, GO:0005515, GO:0005198, protein N-terminus binding, protein homodimerization activity, protein homodimerization activity, protein binding, structural molecule activity, GO:0043328, GO:0036258, GO:0016236, GO:0016197, GO:0007175, protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, multivesicular body assembly, macroautophagy, endosomal transport, negative regulation of epidermal growth factor-activated receptor activity, 91 112 125 51 104 67 78 112 54 ENSG00000131477 chr17 42758447 42763041 + RAMP2 protein_coding The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]. 10266 GO:1903143, GO:0150057, GO:0043235, GO:0043235, GO:0009986, GO:0009986, GO:0005905, GO:0005887, GO:0005886, GO:0005886, GO:0005764, GO:0005737, adrenomedullin receptor complex, amylin receptor complex 2, receptor complex, receptor complex, cell surface, cell surface, clathrin-coated pit, integral component of plasma membrane, plasma membrane, plasma membrane, lysosome, cytoplasm, GO:1990409, GO:0097643, GO:0015026, GO:0015026, GO:0005515, GO:0001605, adrenomedullin binding, amylin receptor activity, coreceptor activity, coreceptor activity, protein binding, adrenomedullin receptor activity, GO:2001214, GO:2000352, GO:1990410, GO:0097647, GO:0097084, GO:0072659, GO:0072659, GO:0070831, GO:0070830, GO:0045766, GO:0043116, GO:0035924, GO:0034333, GO:0032870, GO:0032570, GO:0032355, GO:0032092, GO:0031623, GO:0031623, GO:0015031, GO:0015031, GO:0010628, GO:0008277, GO:0008217, GO:0007565, GO:0007507, GO:0007189, GO:0007189, GO:0007186, GO:0007186, GO:0006886, GO:0006816, GO:0006816, GO:0002040, GO:0001666, GO:0001570, GO:0001525, GO:0001525, positive regulation of vasculogenesis, negative regulation of endothelial cell apoptotic process, adrenomedullin receptor signaling pathway, amylin receptor signaling pathway, vascular associated smooth muscle cell development, protein localization to plasma membrane, protein localization to plasma membrane, basement membrane assembly, bicellular tight junction assembly, positive regulation of angiogenesis, negative regulation of vascular permeability, cellular response to vascular endothelial growth factor stimulus, adherens junction assembly, cellular response to hormone stimulus, response to progesterone, response to estradiol, positive regulation of protein binding, receptor internalization, receptor internalization, protein transport, protein transport, positive regulation of gene expression, regulation of G protein-coupled receptor signaling pathway, regulation of blood pressure, female pregnancy, heart development, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, intracellular protein transport, calcium ion transport, calcium ion transport, sprouting angiogenesis, response to hypoxia, vasculogenesis, angiogenesis, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000131480 chr17 42844600 42850707 + AOC2 protein_coding Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 314 GO:0005886, GO:0005886, GO:0005737, plasma membrane, plasma membrane, cytoplasm, GO:0052596, GO:0052595, GO:0052594, GO:0052593, GO:0048038, GO:0009055, GO:0008131, GO:0008131, GO:0005515, GO:0005507, phenethylamine:oxygen oxidoreductase (deaminating) activity, aliphatic-amine oxidase activity, aminoacetone:oxygen oxidoreductase(deaminating) activity, tryptamine:oxygen oxidoreductase (deaminating) activity, quinone binding, electron transfer activity, primary amine oxidase activity, primary amine oxidase activity, protein binding, copper ion binding, GO:0022900, GO:0009308, GO:0007601, GO:0006805, GO:0006584, electron transport chain, amine metabolic process, visual perception, xenobiotic metabolic process, catecholamine metabolic process, 402 540 495 440 751 600 479 519 464 ENSG00000131482 chr17 42900797 42913369 + G6PC protein_coding Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]. 2538 GO:0030176, GO:0016021, GO:0016020, GO:0005789, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0042301, GO:0016773, GO:0005515, GO:0004346, GO:0004346, GO:0004346, phosphate ion binding, phosphotransferase activity, alcohol group as acceptor, protein binding, glucose-6-phosphatase activity, glucose-6-phosphatase activity, glucose-6-phosphatase activity, GO:1904638, GO:0051156, GO:0046838, GO:0046415, GO:0042632, GO:0042593, GO:0035264, GO:0032869, GO:0032094, GO:0015760, GO:0010468, GO:0009743, GO:0008202, GO:0006641, GO:0006094, GO:0006094, GO:0006094, GO:0006094, GO:0005980, GO:0005977, response to resveratrol, glucose 6-phosphate metabolic process, phosphorylated carbohydrate dephosphorylation, urate metabolic process, cholesterol homeostasis, glucose homeostasis, multicellular organism growth, cellular response to insulin stimulus, response to food, glucose-6-phosphate transport, regulation of gene expression, response to carbohydrate, steroid metabolic process, triglyceride metabolic process, gluconeogenesis, gluconeogenesis, gluconeogenesis, gluconeogenesis, glycogen catabolic process, glycogen metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000131484 chr17 45533963 45534710 + AC091132.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000131495 chr5 140638740 140647785 - NDUFA2 protein_coding The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 4695 GO:0031966, GO:0005747, GO:0005747, GO:0005747, GO:0005743, mitochondrial membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006120, GO:0006120, GO:0001835, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, blastocyst hatching, 197 272 265 128 262 201 105 226 205 ENSG00000131503 chr5 140401814 140539856 + ANKHD1 protein_coding This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]. 54882 GO:0005737, cytoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0045087, innate immune response, 111 112 121 145 164 150 143 132 164 ENSG00000131504 chr5 141515016 141619055 - DIAPH1 protein_coding This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1729 GO:0101003, GO:0072686, GO:0032587, GO:0030667, GO:0005886, GO:0005829, GO:0005815, GO:0005737, GO:0005634, ficolin-1-rich granule membrane, mitotic spindle, ruffle membrane, secretory granule membrane, plasma membrane, cytosol, microtubule organizing center, cytoplasm, nucleus, GO:0044325, GO:0031267, GO:0005515, GO:0005102, GO:0003779, GO:0003723, ion channel binding, small GTPase binding, protein binding, signaling receptor binding, actin binding, RNA binding, GO:2000145, GO:0071420, GO:0051493, GO:0051279, GO:0043312, GO:0035372, GO:0032886, GO:0030335, GO:0030041, GO:0030036, GO:0008360, GO:0007605, GO:0007010, GO:0007010, regulation of cell motility, cellular response to histamine, regulation of cytoskeleton organization, regulation of release of sequestered calcium ion into cytosol, neutrophil degranulation, protein localization to microtubule, regulation of microtubule-based process, positive regulation of cell migration, actin filament polymerization, actin cytoskeleton organization, regulation of cell shape, sensory perception of sound, cytoskeleton organization, cytoskeleton organization, 2866 3574 4542 1608 2115 2314 1776 1852 1920 ENSG00000131507 chr5 142108505 142154443 + NDFIP1 protein_coding The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008]. 80762 GO:0048471, GO:0048471, GO:0045202, GO:0030425, GO:0016021, GO:0010008, GO:0005938, GO:0005794, GO:0005783, GO:0005576, GO:0000139, perinuclear region of cytoplasm, perinuclear region of cytoplasm, synapse, dendrite, integral component of membrane, endosome membrane, cell cortex, Golgi apparatus, endoplasmic reticulum, extracellular region, Golgi membrane, GO:0050699, GO:0005515, WW domain binding, protein binding, GO:0051224, GO:0050728, GO:0048302, GO:0048294, GO:0045732, GO:0045619, GO:0043123, GO:0042130, GO:0032713, GO:0032410, GO:0031398, GO:0031398, GO:0031398, GO:0030001, GO:0010629, GO:0007034, GO:0006879, GO:0006511, GO:0002829, GO:0002761, negative regulation of protein transport, negative regulation of inflammatory response, regulation of isotype switching to IgG isotypes, negative regulation of isotype switching to IgE isotypes, positive regulation of protein catabolic process, regulation of lymphocyte differentiation, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of T cell proliferation, negative regulation of interleukin-4 production, negative regulation of transporter activity, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, metal ion transport, negative regulation of gene expression, vacuolar transport, cellular iron ion homeostasis, ubiquitin-dependent protein catabolic process, negative regulation of type 2 immune response, regulation of myeloid leukocyte differentiation, 561 429 689 376 323 470 387 311 376 ENSG00000131508 chr5 139526431 139628433 + UBE2D2 protein_coding Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. 7322 GO:0070062, GO:0032991, GO:0005829, GO:0005654, GO:0005634, GO:0000151, extracellular exosome, protein-containing complex, cytosol, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0061631, GO:0061631, GO:0061630, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0070936, GO:0051865, GO:0035666, GO:0016567, GO:0016567, GO:0006625, GO:0006511, GO:0006464, GO:0002756, GO:0000209, GO:0000209, protein K48-linked ubiquitination, protein autoubiquitination, TRIF-dependent toll-like receptor signaling pathway, protein ubiquitination, protein ubiquitination, protein targeting to peroxisome, ubiquitin-dependent protein catabolic process, cellular protein modification process, MyD88-independent toll-like receptor signaling pathway, protein polyubiquitination, protein polyubiquitination, 998 791 1114 695 726 799 613 644 699 ENSG00000131538 chrY 22439593 22441458 - TTTY6 lincRNA There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. 84672 0 0 0 0 0 0 0 0 0 ENSG00000131548 chrY 22144966 22146831 + TTTY6B antisense There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. 441543 0 0 0 0 0 0 0 0 0 ENSG00000131558 chr7 133253073 134066589 + EXOC4 protein_coding The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 60412 GO:0090543, GO:0045202, GO:0035748, GO:0032584, GO:0016020, GO:0005902, GO:0005886, GO:0005829, GO:0005737, GO:0000145, Flemming body, synapse, myelin sheath abaxonal region, growth cone membrane, membrane, microvillus, plasma membrane, cytosol, cytoplasm, exocyst, GO:0047485, GO:0031267, GO:0030165, GO:0005515, protein N-terminus binding, small GTPase binding, PDZ domain binding, protein binding, GO:0090522, GO:0048341, GO:0016241, GO:0007268, GO:0006904, GO:0006893, GO:0006887, GO:0006612, vesicle tethering involved in exocytosis, paraxial mesoderm formation, regulation of macroautophagy, chemical synaptic transmission, vesicle docking involved in exocytosis, Golgi to plasma membrane transport, exocytosis, protein targeting to membrane, 178 190 233 139 118 162 121 116 109 ENSG00000131584 chr1 1292376 1309609 - ACAP3 protein_coding 116983 GO:0030426, growth cone, GO:0046872, GO:0005096, metal ion binding, GTPase activator activity, GO:0043547, GO:0010975, GO:0001764, positive regulation of GTPase activity, regulation of neuron projection development, neuron migration, 316 377 437 494 540 475 433 342 398 ENSG00000131591 chr1 1081818 1116361 - C1orf159 protein_coding 54991 GO:0016021, integral component of membrane, 14 32 45 42 51 48 51 33 27 ENSG00000131620 chr11 70078302 70189528 + ANO1 protein_coding 55107 GO:0070062, GO:0045121, GO:0034707, GO:0016324, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005654, extracellular exosome, membrane raft, chloride channel complex, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleoplasm, GO:0046872, GO:0042803, GO:0015111, GO:0005515, GO:0005254, GO:0005254, GO:0005247, GO:0005229, GO:0005229, GO:0005229, GO:0005229, GO:0005227, GO:0005102, metal ion binding, protein homodimerization activity, iodide transmembrane transporter activity, protein binding, chloride channel activity, chloride channel activity, voltage-gated chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, calcium activated cation channel activity, signaling receptor binding, GO:1902476, GO:1902476, GO:1901653, GO:0098655, GO:0055085, GO:0050965, GO:0035774, GO:0035774, GO:0034605, GO:0034220, GO:0015705, GO:0007275, GO:0007200, GO:0006821, GO:0006821, GO:0006812, chloride transmembrane transport, chloride transmembrane transport, cellular response to peptide, cation transmembrane transport, transmembrane transport, detection of temperature stimulus involved in sensory perception of pain, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of insulin secretion involved in cellular response to glucose stimulus, cellular response to heat, ion transmembrane transport, iodide transport, multicellular organism development, phospholipase C-activating G protein-coupled receptor signaling pathway, chloride transport, chloride transport, cation transport, 0 0 0 0 0 0 0 0 0 ENSG00000131626 chr11 70270700 70385312 + PPFIA1 protein_coding The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 8500 GO:0048786, GO:0048786, GO:0005925, GO:0005829, GO:0005829, GO:0005737, presynaptic active zone, presynaptic active zone, focal adhesion, cytosol, cytosol, cytoplasm, GO:0005515, protein binding, GO:1903077, GO:0051497, GO:0050808, GO:0014047, GO:0007269, GO:0007165, GO:0007160, negative regulation of protein localization to plasma membrane, negative regulation of stress fiber assembly, synapse organization, glutamate secretion, neurotransmitter secretion, signal transduction, cell-matrix adhesion, 1104 1301 1423 834 1402 1215 989 1038 997 ENSG00000131634 chr16 1528688 1555580 + TMEM204 protein_coding C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]. 79652 GO:0016021, GO:0005912, GO:0005886, integral component of membrane, adherens junction, plasma membrane, GO:0051145, GO:0030947, GO:0001945, smooth muscle cell differentiation, regulation of vascular endothelial growth factor receptor signaling pathway, lymph vessel development, 15 7 17 40 16 20 29 10 21 ENSG00000131650 chr16 2963944 2968383 + KREMEN2 protein_coding This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 79412 GO:0031901, GO:0016021, GO:0005886, early endosome membrane, integral component of membrane, plasma membrane, GO:0090090, GO:0060173, GO:0030279, GO:0016055, negative regulation of canonical Wnt signaling pathway, limb development, negative regulation of ossification, Wnt signaling pathway, 0 0 0 0 0 0 0 1 5 ENSG00000131652 chr16 3024027 3027755 + THOC6 protein_coding This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]. 79228 GO:0016607, GO:0016604, GO:0005654, GO:0005654, GO:0005634, GO:0000781, GO:0000445, GO:0000347, GO:0000346, nuclear speck, nuclear body, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, THO complex part of transcription export complex, THO complex, transcription export complex, GO:0003723, RNA binding, GO:0046784, GO:0043066, GO:0031124, GO:0008380, GO:0007417, GO:0006915, GO:0006406, GO:0006406, GO:0006405, viral mRNA export from host cell nucleus, negative regulation of apoptotic process, mRNA 3'-end processing, RNA splicing, central nervous system development, apoptotic process, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 14 21 32 98 49 82 54 45 67 ENSG00000131653 chr16 2155698 2178129 + TRAF7 protein_coding Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]. 84231 GO:0043231, GO:0031410, GO:0005886, GO:0005730, GO:0000151, intracellular membrane-bounded organelle, cytoplasmic vesicle, plasma membrane, nucleolus, ubiquitin ligase complex, GO:0008270, GO:0005515, GO:0004842, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:2001235, GO:0070372, GO:0043410, GO:0016567, GO:0016567, GO:0007219, GO:0006915, GO:0000185, GO:0000027, positive regulation of apoptotic signaling pathway, regulation of ERK1 and ERK2 cascade, positive regulation of MAPK cascade, protein ubiquitination, protein ubiquitination, Notch signaling pathway, apoptotic process, activation of MAPKKK activity, ribosomal large subunit assembly, 343 374 387 384 422 341 417 376 335 ENSG00000131668 chr9 93951622 93955372 - BARX1 protein_coding This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]. 56033 GO:0005634, GO:0000785, nucleus, chromatin, GO:0003700, GO:0000981, GO:0000981, GO:0000977, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0055123, GO:0048536, GO:0045944, GO:0030855, GO:0030178, GO:0009952, GO:0007267, GO:0006357, digestive system development, spleen development, positive regulation of transcription by RNA polymerase II, epithelial cell differentiation, negative regulation of Wnt signaling pathway, anterior/posterior pattern specification, cell-cell signaling, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000131669 chr9 93121489 93134288 - NINJ1 protein_coding The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009]. 4814 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:1990384, GO:0042246, GO:0007399, GO:0007155, hyaloid vascular plexus regression, tissue regeneration, nervous system development, cell adhesion, 9293 7547 13178 1710 3223 3239 2782 3445 3481 ENSG00000131686 chr1 8945867 8975092 + CA6 protein_coding The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]. 765 GO:0070062, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular space, extracellular space, extracellular region, GO:0016836, GO:0008270, GO:0004089, hydro-lyase activity, zinc ion binding, carbonate dehydratase activity, GO:0015701, GO:0006730, GO:0001580, bicarbonate transport, one-carbon metabolic process, detection of chemical stimulus involved in sensory perception of bitter taste, 2 1 3 4 1 0 10 3 7 ENSG00000131697 chr1 5862811 5992473 - NPHP4 protein_coding This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 261734 GO:0120206, GO:0097730, GO:0097546, GO:0097470, GO:0043231, GO:0036064, GO:0035869, GO:0016604, GO:0005923, GO:0005911, GO:0005829, GO:0005829, GO:0005813, GO:0005654, photoreceptor distal connecting cilium, non-motile cilium, ciliary base, ribbon synapse, intracellular membrane-bounded organelle, ciliary basal body, ciliary transition zone, nuclear body, bicellular tight junction, cell-cell junction, cytosol, cytosol, centrosome, nucleoplasm, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:1904491, GO:1903348, GO:0098609, GO:0097711, GO:0090090, GO:0090090, GO:0060041, GO:0045494, GO:0035845, GO:0035329, GO:0030317, GO:0030036, GO:0007632, GO:0007165, protein localization to ciliary transition zone, positive regulation of bicellular tight junction assembly, cell-cell adhesion, ciliary basal body-plasma membrane docking, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, retina development in camera-type eye, photoreceptor cell maintenance, photoreceptor cell outer segment organization, hippo signaling, flagellated sperm motility, actin cytoskeleton organization, visual behavior, signal transduction, 86 81 93 95 82 89 86 87 63 ENSG00000131711 chr5 72107234 72209570 + MAP1B protein_coding This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]. 4131 GO:0097457, GO:0097441, GO:0097440, GO:0048471, GO:0045202, GO:0043204, GO:0043197, GO:0043196, GO:0043025, GO:0043025, GO:0036477, GO:0030426, GO:0030425, GO:0030425, GO:0030424, GO:0014069, GO:0005886, GO:0005875, GO:0005874, GO:0005874, GO:0005829, GO:0005829, GO:0001750, hippocampal mossy fiber, basal dendrite, apical dendrite, perinuclear region of cytoplasm, synapse, perikaryon, dendritic spine, varicosity, neuronal cell body, neuronal cell body, somatodendritic compartment, growth cone, dendrite, dendrite, axon, postsynaptic density, plasma membrane, microtubule associated complex, microtubule, microtubule, cytosol, cytosol, photoreceptor outer segment, GO:0044877, GO:0008017, GO:0008017, GO:0008017, GO:0005543, GO:0005515, GO:0005198, GO:0003779, protein-containing complex binding, microtubule binding, microtubule binding, microtubule binding, phospholipid binding, protein binding, structural molecule activity, actin binding, GO:0071375, GO:0071363, GO:0061162, GO:0051915, GO:0048675, GO:0047497, GO:0045773, GO:0042493, GO:0033189, GO:0032387, GO:0032355, GO:0031116, GO:0031114, GO:0021700, GO:0017085, GO:0016358, GO:0014012, GO:0010035, GO:0009987, GO:0009743, GO:0009612, GO:0007416, GO:0007409, GO:0007026, GO:0001764, GO:0001578, GO:0000226, cellular response to peptide hormone stimulus, cellular response to growth factor stimulus, establishment of monopolar cell polarity, induction of synaptic plasticity by chemical substance, axon extension, mitochondrion transport along microtubule, positive regulation of axon extension, response to drug, response to vitamin A, negative regulation of intracellular transport, response to estradiol, positive regulation of microtubule polymerization, regulation of microtubule depolymerization, developmental maturation, response to insecticide, dendrite development, peripheral nervous system axon regeneration, response to inorganic substance, cellular process, response to carbohydrate, response to mechanical stimulus, synapse assembly, axonogenesis, negative regulation of microtubule depolymerization, neuron migration, microtubule bundle formation, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000131721 chrX 120158561 120165630 + RHOXF2 protein_coding This gene, which encodes a transcriptional repressor, is one of two paralogous X-linked homeobox-containing genes and is highly expressed in a variety of cancers. In addition, the encoded protein associates with the cell membrane and with microtubules, and is concentrated at the leading edge of migratory cells. [provided by RefSeq, Dec 2015]. 84528 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0010628, GO:0006357, positive regulation of gene expression, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000131724 chrX 118727572 118794539 + IL13RA1 protein_coding The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008]. 3597 GO:0043235, GO:0009897, GO:0005898, GO:0005886, receptor complex, external side of plasma membrane, interleukin-13 receptor complex, plasma membrane, GO:0019955, GO:0005515, GO:0005127, GO:0004924, GO:0004923, GO:0004896, cytokine binding, protein binding, ciliary neurotrophic factor receptor binding, oncostatin-M receptor activity, leukemia inhibitory factor receptor activity, cytokine receptor activity, GO:0048861, GO:0038165, GO:0019221, GO:0019221, GO:0008284, GO:0007166, leukemia inhibitory factor signaling pathway, oncostatin-M-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, cell surface receptor signaling pathway, 2874 3492 5138 576 1781 1175 779 1594 1229 ENSG00000131725 chrX 118346073 118449961 + WDR44 protein_coding This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 54521 GO:0048471, GO:0010008, GO:0005829, GO:0005794, perinuclear region of cytoplasm, endosome membrane, cytosol, Golgi apparatus, GO:0031267, GO:0005515, small GTPase binding, protein binding, 187 221 244 117 111 118 139 98 114 ENSG00000131730 chr5 81233285 81266397 + CKMT2 protein_coding Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 1160 GO:0005743, GO:0005739, GO:0005739, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0016301, GO:0005524, GO:0005515, GO:0004111, kinase activity, ATP binding, protein binding, creatine kinase activity, GO:0046314, GO:0016310, GO:0006936, GO:0006600, phosphocreatine biosynthetic process, phosphorylation, muscle contraction, creatine metabolic process, 0 0 0 6 1 0 2 0 0 ENSG00000131732 chr5 81301590 81313297 + ZCCHC9 protein_coding 84240 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0008270, GO:0003723, zinc ion binding, RNA binding, GO:0010923, GO:0010923, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 119 82 149 66 61 88 86 38 90 ENSG00000131737 chr17 41377650 41382403 - KRT34 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. 3885 GO:0005882, GO:0005829, GO:0005615, intermediate filament, cytosol, extracellular space, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, GO:0008544, cornification, keratinization, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000131738 chr17 41363494 41369800 - KRT33B protein_coding This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]. 3884 GO:0070062, GO:0005882, GO:0005829, GO:0005615, extracellular exosome, intermediate filament, cytosol, extracellular space, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0042633, GO:0031424, GO:0007568, cornification, hair cycle, keratinization, aging, 0 0 0 0 0 0 0 0 0 ENSG00000131746 chr17 40475828 40501597 - TNS4 protein_coding 84951 GO:0005925, GO:0005856, GO:0005829, focal adhesion, cytoskeleton, cytosol, GO:0005515, GO:0003779, protein binding, actin binding, GO:0008104, GO:0006915, protein localization, apoptotic process, 1 2 7 3 0 0 4 1 0 ENSG00000131747 chr17 40388516 40417950 - TOP2A protein_coding This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]. 7153 GO:1990904, GO:0032991, GO:0009330, GO:0005814, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000793, GO:0000775, GO:0000228, ribonucleoprotein complex, protein-containing complex, DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) complex, centriole, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, condensed chromosome, chromosome, centromeric region, nuclear chromosome, GO:0046982, GO:0043130, GO:0042826, GO:0042803, GO:0019899, GO:0008301, GO:0008094, GO:0008022, GO:0005524, GO:0005515, GO:0005080, GO:0003918, GO:0003918, GO:0003723, GO:0003682, GO:0003677, GO:0000287, protein heterodimerization activity, ubiquitin binding, histone deacetylase binding, protein homodimerization activity, enzyme binding, DNA binding, bending, DNA-dependent ATPase activity, protein C-terminus binding, ATP binding, protein binding, protein kinase C binding, DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity, DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity, RNA binding, chromatin binding, DNA binding, magnesium ion binding, GO:1905463, GO:0048511, GO:0045944, GO:0045870, GO:0044774, GO:0043065, GO:0042752, GO:0040016, GO:0030263, GO:0030263, GO:0007143, GO:0007059, GO:0006974, GO:0006266, GO:0006265, GO:0006265, GO:0002244, GO:0000819, GO:0000712, negative regulation of DNA duplex unwinding, rhythmic process, positive regulation of transcription by RNA polymerase II, positive regulation of single stranded viral RNA replication via double stranded DNA intermediate, mitotic DNA integrity checkpoint, positive regulation of apoptotic process, regulation of circadian rhythm, embryonic cleavage, apoptotic chromosome condensation, apoptotic chromosome condensation, female meiotic nuclear division, chromosome segregation, cellular response to DNA damage stimulus, DNA ligation, DNA topological change, DNA topological change, hematopoietic progenitor cell differentiation, sister chromatid segregation, resolution of meiotic recombination intermediates, 11 3 22 12 4 15 18 2 22 ENSG00000131748 chr17 39637065 39663484 + STARD3 protein_coding This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. 10948 GO:0140284, GO:0044232, GO:0043231, GO:0031902, GO:0016021, GO:0005829, GO:0005789, GO:0005768, GO:0005765, GO:0005739, GO:0005737, GO:0005654, endoplasmic reticulum-endosome membrane contact site, organelle membrane contact site, intracellular membrane-bounded organelle, late endosome membrane, integral component of membrane, cytosol, endoplasmic reticulum membrane, endosome, lysosomal membrane, mitochondrion, cytoplasm, nucleoplasm, GO:0120020, GO:0042803, GO:0015485, GO:0005515, cholesterol transfer activity, protein homodimerization activity, cholesterol binding, protein binding, GO:0120009, GO:0099044, GO:0030301, GO:0008203, GO:0008202, GO:0006839, GO:0006701, GO:0006700, GO:0006629, intermembrane lipid transfer, vesicle tethering to endoplasmic reticulum, cholesterol transport, cholesterol metabolic process, steroid metabolic process, mitochondrial transport, progesterone biosynthetic process, C21-steroid hormone biosynthetic process, lipid metabolic process, 960 994 1084 742 1011 720 811 744 741 ENSG00000131759 chr17 40309192 40357643 + RARA protein_coding This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]. 5914 GO:0032991, GO:0015629, GO:0009986, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, actin cytoskeleton, cell surface, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0051393, GO:0051018, GO:0044323, GO:0043422, GO:0031490, GO:0019904, GO:0019899, GO:0008270, GO:0008134, GO:0005515, GO:0005102, GO:0004879, GO:0004879, GO:0003700, GO:0003682, GO:0001972, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, alpha-actinin binding, protein kinase A binding, retinoic acid-responsive element binding, protein kinase B binding, chromatin DNA binding, protein domain specific binding, enzyme binding, zinc ion binding, transcription factor binding, protein binding, signaling receptor binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, chromatin binding, retinoic acid binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071391, GO:0071222, GO:0061037, GO:0060591, GO:0060534, GO:0060324, GO:0060173, GO:0060010, GO:0055012, GO:0051099, GO:0048384, GO:0048384, GO:0048384, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045787, GO:0045630, GO:0043277, GO:0043066, GO:0035264, GO:0032754, GO:0032753, GO:0032736, GO:0032720, GO:0032689, GO:0032526, GO:0031076, GO:0030853, GO:0030154, GO:0009755, GO:0008284, GO:0007283, GO:0007281, GO:0007165, GO:0006468, GO:0006367, GO:0003417, GO:0003148, GO:0002068, GO:0001843, GO:0001657, GO:0000122, cellular response to estrogen stimulus, cellular response to lipopolysaccharide, negative regulation of cartilage development, chondroblast differentiation, trachea cartilage development, face development, limb development, Sertoli cell fate commitment, ventricular cardiac muscle cell differentiation, positive regulation of binding, retinoic acid receptor signaling pathway, retinoic acid receptor signaling pathway, retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, positive regulation of T-helper 2 cell differentiation, apoptotic cell clearance, negative regulation of apoptotic process, multicellular organism growth, positive regulation of interleukin-5 production, positive regulation of interleukin-4 production, positive regulation of interleukin-13 production, negative regulation of tumor necrosis factor production, negative regulation of interferon-gamma production, response to retinoic acid, embryonic camera-type eye development, negative regulation of granulocyte differentiation, cell differentiation, hormone-mediated signaling pathway, positive regulation of cell population proliferation, spermatogenesis, germ cell development, signal transduction, protein phosphorylation, transcription initiation from RNA polymerase II promoter, growth plate cartilage development, outflow tract septum morphogenesis, glandular epithelial cell development, neural tube closure, ureteric bud development, negative regulation of transcription by RNA polymerase II, 4414 4688 5934 2593 4596 4473 2784 3644 3576 ENSG00000131771 chr17 39626740 39636626 + PPP1R1B protein_coding This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 84152 GO:0044327, GO:0044326, GO:0043025, GO:0005829, GO:0005737, GO:0005634, dendritic spine head, dendritic spine neck, neuronal cell body, cytosol, cytoplasm, nucleus, GO:0031752, GO:0031751, GO:0031750, GO:0031749, GO:0031748, GO:0019888, GO:0005515, GO:0004864, GO:0004864, GO:0004860, D5 dopamine receptor binding, D4 dopamine receptor binding, D3 dopamine receptor binding, D2 dopamine receptor binding, D1 dopamine receptor binding, protein phosphatase regulator activity, protein binding, protein phosphatase inhibitor activity, protein phosphatase inhibitor activity, protein kinase inhibitor activity, GO:0048148, GO:0043278, GO:0035556, GO:0035094, GO:0032515, GO:0008542, GO:0007626, GO:0007621, GO:0007613, GO:0007165, GO:0006469, GO:0006351, GO:0001975, behavioral response to cocaine, response to morphine, intracellular signal transduction, response to nicotine, negative regulation of phosphoprotein phosphatase activity, visual learning, locomotory behavior, negative regulation of female receptivity, memory, signal transduction, negative regulation of protein kinase activity, transcription, DNA-templated, response to amphetamine, 12 4 10 1 11 6 7 11 23 ENSG00000131773 chr8 135457457 135656722 + KHDRBS3 protein_coding 10656 GO:0032991, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0019904, GO:0017124, GO:0005515, GO:0003729, GO:0003723, GO:0003723, identical protein binding, protein domain specific binding, SH3 domain binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:0016032, GO:0006397, GO:0000381, viral process, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, 1 6 2 0 0 0 0 0 0 ENSG00000131778 chr1 147242641 147295766 + CHD1L protein_coding This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]. 9557 GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0016887, GO:0016887, GO:0005524, GO:0005515, GO:0003678, GO:0000166, GO:0000166, ATPase activity, ATPase activity, ATP binding, protein binding, DNA helicase activity, nucleotide binding, nucleotide binding, GO:0070911, GO:0033683, GO:0006974, GO:0006974, GO:0006338, GO:0006338, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006281, GO:0000717, global genome nucleotide-excision repair, nucleotide-excision repair, DNA incision, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, chromatin remodeling, chromatin remodeling, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, DNA repair, nucleotide-excision repair, DNA duplex unwinding, 23 21 31 67 30 84 46 24 40 ENSG00000131779 chr1 145911350 145918837 - PEX11B protein_coding The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]. 8799 GO:0043231, GO:0032991, GO:0016020, GO:0005779, GO:0005779, GO:0005778, GO:0005778, GO:0005777, intracellular membrane-bounded organelle, protein-containing complex, membrane, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0042803, GO:0042802, GO:0005515, protein homodimerization activity, identical protein binding, protein binding, GO:0044375, GO:0044375, GO:0016559, GO:0016559, GO:0007165, GO:0007031, GO:0007031, regulation of peroxisome size, regulation of peroxisome size, peroxisome fission, peroxisome fission, signal transduction, peroxisome organization, peroxisome organization, 33 43 35 44 36 43 41 34 54 ENSG00000131781 chr1 147175351 147243050 - FMO5 protein_coding Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]. 2330 GO:0016021, GO:0005829, GO:0005789, GO:0005783, integral component of membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0050661, GO:0050660, GO:0016174, GO:0004499, GO:0004497, GO:0004497, GO:0004031, NADP binding, flavin adenine dinucleotide binding, NAD(P)H oxidase H2O2-forming activity, N,N-dimethylaniline monooxygenase activity, monooxygenase activity, monooxygenase activity, aldehyde oxidase activity, GO:0090181, GO:0070995, GO:0055114, GO:0017144, regulation of cholesterol metabolic process, NADPH oxidation, oxidation-reduction process, drug metabolic process, 19 14 23 21 25 32 27 10 16 ENSG00000131788 chr1 145848522 145859836 - PIAS3 protein_coding This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. 10401 GO:0045202, GO:0030425, GO:0016607, GO:0005737, GO:0005654, GO:0000785, synapse, dendrite, nuclear speck, cytoplasm, nucleoplasm, chromatin, GO:0061665, GO:0047485, GO:0019899, GO:0019789, GO:0015459, GO:0008270, GO:0008022, GO:0005515, GO:0003712, GO:0001085, SUMO ligase activity, protein N-terminus binding, enzyme binding, SUMO transferase activity, potassium channel regulator activity, zinc ion binding, protein C-terminus binding, protein binding, transcription coregulator activity, RNA polymerase II transcription factor binding, GO:0071847, GO:0045838, GO:0045671, GO:0033235, GO:0033234, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0010628, GO:0009725, GO:0006357, GO:0000122, TNFSF11-mediated signaling pathway, positive regulation of membrane potential, negative regulation of osteoclast differentiation, positive regulation of protein sumoylation, negative regulation of protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, positive regulation of gene expression, response to hormone, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 58 56 101 57 57 93 64 51 74 ENSG00000131791 chr1 147155106 147172550 - PRKAB2 protein_coding The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]. 5565 GO:0031588, GO:0031588, GO:0005829, GO:0005737, GO:0005654, GO:0005634, nucleotide-activated protein kinase complex, nucleotide-activated protein kinase complex, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0042802, GO:0019901, GO:0005515, GO:0004679, identical protein binding, protein kinase binding, protein binding, AMP-activated protein kinase activity, GO:1901796, GO:0120162, GO:0050790, GO:0042304, GO:0016241, GO:0016236, GO:0007165, GO:0007050, GO:0006853, GO:0006633, GO:0006468, regulation of signal transduction by p53 class mediator, positive regulation of cold-induced thermogenesis, regulation of catalytic activity, regulation of fatty acid biosynthetic process, regulation of macroautophagy, macroautophagy, signal transduction, cell cycle arrest, carnitine shuttle, fatty acid biosynthetic process, protein phosphorylation, 41 36 61 53 48 89 68 31 57 ENSG00000131797 chr16 31700590 31711986 + CLUHP3 transcribed_unprocessed_pseudogene 100132341 GO:0005515, protein binding, 51 23 90 260 26 295 265 34 142 ENSG00000131808 chr11 30231016 30235261 + FSHB protein_coding The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 2488 GO:0016914, GO:0005737, GO:0005737, GO:0005615, GO:0005615, GO:0005576, GO:0005576, follicle-stimulating hormone complex, cytoplasm, cytoplasm, extracellular space, extracellular space, extracellular region, extracellular region, GO:0016913, GO:0016913, GO:0016913, GO:0005515, GO:0005179, follicle-stimulating hormone activity, follicle-stimulating hormone activity, follicle-stimulating hormone activity, protein binding, hormone activity, GO:0060011, GO:0045944, GO:0045780, GO:0045670, GO:0042699, GO:0030335, GO:0016486, GO:0010893, GO:0010469, GO:0009755, GO:0008284, GO:0007565, GO:0007292, GO:0007186, GO:0007186, GO:0007186, GO:0007179, GO:0006701, Sertoli cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of bone resorption, regulation of osteoclast differentiation, follicle-stimulating hormone signaling pathway, positive regulation of cell migration, peptide hormone processing, positive regulation of steroid biosynthetic process, regulation of signaling receptor activity, hormone-mediated signaling pathway, positive regulation of cell population proliferation, female pregnancy, female gamete generation, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, transforming growth factor beta receptor signaling pathway, progesterone biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000131828 chrX 19343893 19361705 + PDHA1 protein_coding The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]. 5160 GO:0045254, GO:0005967, GO:0005759, GO:0005739, GO:0005739, GO:0005730, GO:0005634, pyruvate dehydrogenase complex, mitochondrial pyruvate dehydrogenase complex, mitochondrial matrix, mitochondrion, mitochondrion, nucleolus, nucleus, GO:0034604, GO:0005515, GO:0004739, GO:0004739, pyruvate dehydrogenase (NAD+) activity, protein binding, pyruvate dehydrogenase (acetyl-transferring) activity, pyruvate dehydrogenase (acetyl-transferring) activity, GO:0061732, GO:0006099, GO:0006090, GO:0006086, GO:0006086, GO:0006006, mitochondrial acetyl-CoA biosynthetic process from pyruvate, tricarboxylic acid cycle, pyruvate metabolic process, acetyl-CoA biosynthetic process from pyruvate, acetyl-CoA biosynthetic process from pyruvate, glucose metabolic process, 168 187 200 171 221 208 201 195 167 ENSG00000131831 chrX 17800049 17861337 - RAI2 protein_coding Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked cognitive disability, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. 10742 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0009792, embryo development ending in birth or egg hatching, 6 4 2 2 6 0 4 3 0 ENSG00000131844 chr5 71587288 71658704 + MCCC2 protein_coding This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]. 64087 GO:1905202, GO:1905202, GO:0005829, GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0002169, GO:0002169, methylcrotonoyl-CoA carboxylase complex, methylcrotonoyl-CoA carboxylase complex, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, 3-methylcrotonyl-CoA carboxylase complex, mitochondrial, 3-methylcrotonyl-CoA carboxylase complex, mitochondrial, GO:0005524, GO:0005515, GO:0004485, GO:0004485, GO:0004485, ATP binding, protein binding, methylcrotonoyl-CoA carboxylase activity, methylcrotonoyl-CoA carboxylase activity, methylcrotonoyl-CoA carboxylase activity, GO:0015936, GO:0009083, GO:0006768, GO:0006552, GO:0006552, GO:0006552, coenzyme A metabolic process, branched-chain amino acid catabolic process, biotin metabolic process, leucine catabolic process, leucine catabolic process, leucine catabolic process, 19 10 32 23 27 38 24 19 39 ENSG00000131845 chr19 57351307 57359898 + ZNF304 protein_coding This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein functions as a transcriptional repressor that recruits a corepressor complex to stimulate promoter hypermethylation and transcriptional silencing of target genes. Expression of this gene is upregulated in colorectal, ovarian and breast cancer, and this gene may promote cancer cell survival, growth and invasion. [provided by RefSeq, Jul 2016]. 57343 GO:0005634, nucleus, GO:1990841, GO:0046872, GO:0005515, GO:0000981, GO:0000978, promoter-specific chromatin binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000811, GO:1902466, GO:1900114, GO:0090309, GO:0050679, GO:0045944, GO:0045766, GO:0035562, GO:0030335, GO:0007265, GO:0007229, GO:0006357, GO:0006325, GO:0001525, negative regulation of anoikis, positive regulation of histone H3-K27 trimethylation, positive regulation of histone H3-K9 trimethylation, positive regulation of DNA methylation-dependent heterochromatin assembly, positive regulation of epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, negative regulation of chromatin binding, positive regulation of cell migration, Ras protein signal transduction, integrin-mediated signaling pathway, regulation of transcription by RNA polymerase II, chromatin organization, angiogenesis, 41 30 32 85 48 27 56 34 8 ENSG00000131848 chr19 56219670 56368383 - ZSCAN5A protein_coding 79149 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 4 6 1 7 9 7 0 5 ENSG00000131849 chr19 58432814 58440222 - ZNF132 protein_coding 7691 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 7 6 3 7 8 0 11 8 3 ENSG00000131864 chr19 57119138 57131926 + USP29 protein_coding 57663 GO:0005829, GO:0005634, GO:0005575, cytosol, nucleus, cellular_component, GO:0004843, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0016579, GO:0006511, GO:0000082, protein deubiquitination, ubiquitin-dependent protein catabolic process, G1/S transition of mitotic cell cycle, 0 0 0 1 0 0 0 0 0 ENSG00000131871 chr15 101270817 101277500 - SELENOS protein_coding This gene encodes a transmembrane protein that is localized in the endoplasmic reticulum (ER). It is involved in the degradation process of misfolded proteins in the ER, and may also have a role in inflammation control. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Two additional phylogenetically conserved stem-loop structures (Stem-loop 1 and Stem-loop 2) in the 3' UTR of this mRNA have been shown to function as modulators of Sec insertion. An alternatively spliced transcript variant, lacking the SECIS element and encoding a non-Sec containing shorter isoform, has been described for this gene (PMID:23614019). [provided by RefSeq, Jul 2017]. 55829 GO:0036513, GO:0036513, GO:0036502, GO:0036502, GO:0034362, GO:0034361, GO:0030176, GO:0030176, GO:0005886, GO:0005881, GO:0005789, GO:0005783, GO:0005783, Derlin-1 retrotranslocation complex, Derlin-1 retrotranslocation complex, Derlin-1-VIMP complex, Derlin-1-VIMP complex, low-density lipoprotein particle, very-low-density lipoprotein particle, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, plasma membrane, cytoplasmic microtubule, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:1990381, GO:0051117, GO:0038023, GO:0019899, GO:0016209, GO:0005515, ubiquitin-specific protease binding, ATPase binding, signaling receptor activity, enzyme binding, antioxidant activity, protein binding, GO:2000110, GO:1902236, GO:0098869, GO:0080164, GO:0071222, GO:0051775, GO:0051771, GO:0050728, GO:0046325, GO:0045719, GO:0045454, GO:0045184, GO:0034599, GO:0032869, GO:0032720, GO:0032715, GO:0030970, GO:0030970, GO:0030968, GO:0030968, GO:0030433, GO:0030433, GO:0016567, GO:0009749, GO:0006983, GO:0006983, GO:0006111, GO:0002865, negative regulation of macrophage apoptotic process, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, cellular oxidant detoxification, regulation of nitric oxide metabolic process, cellular response to lipopolysaccharide, response to redox state, negative regulation of nitric-oxide synthase biosynthetic process, negative regulation of inflammatory response, negative regulation of glucose import, negative regulation of glycogen biosynthetic process, cell redox homeostasis, establishment of protein localization, cellular response to oxidative stress, cellular response to insulin stimulus, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, retrograde protein transport, ER to cytosol, retrograde protein transport, ER to cytosol, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, response to glucose, ER overload response, ER overload response, regulation of gluconeogenesis, negative regulation of acute inflammatory response to antigenic stimulus, 86 68 119 69 80 93 73 59 57 ENSG00000131873 chr15 101175723 101251932 - CHSY1 protein_coding This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]. 22856 GO:0032580, GO:0016021, GO:0016020, GO:0005576, GO:0000139, Golgi cisterna membrane, integral component of membrane, membrane, extracellular region, Golgi membrane, GO:0050510, GO:0047238, GO:0047238, GO:0046872, GO:0008376, N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, metal ion binding, acetylgalactosaminyltransferase activity, GO:0060349, GO:0051923, GO:0045880, GO:0031667, GO:0030279, GO:0030206, GO:0030206, GO:0030206, GO:0009954, GO:0002063, bone morphogenesis, sulfation, positive regulation of smoothened signaling pathway, response to nutrient levels, negative regulation of ossification, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, proximal/distal pattern formation, chondrocyte development, 5891 5303 5317 1507 2591 2004 1588 2066 1746 ENSG00000131876 chr15 101281510 101295282 - SNRPA1 protein_coding 6627 GO:0071013, GO:0071007, GO:0071005, GO:0030532, GO:0016607, GO:0016604, GO:0005686, GO:0005681, GO:0005654, GO:0005654, GO:0005634, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, small nuclear ribonucleoprotein complex, nuclear speck, nuclear body, U2 snRNP, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0030620, GO:0005515, GO:0003723, U2 snRNA binding, protein binding, RNA binding, GO:0035722, GO:0008380, GO:0007283, GO:0000398, GO:0000398, GO:0000398, GO:0000398, interleukin-12-mediated signaling pathway, RNA splicing, spermatogenesis, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 41 34 78 77 63 101 66 32 68 ENSG00000131885 chr17 16840895 16845881 - KRT17P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 4 1 0 0 ENSG00000131899 chr17 18225587 18244875 + LLGL1 protein_coding This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 3996 GO:0032588, GO:0031901, GO:0030864, GO:0030864, GO:0030424, GO:0005886, GO:0005856, GO:0005737, GO:0005737, GO:0000137, trans-Golgi network membrane, early endosome membrane, cortical actin cytoskeleton, cortical actin cytoskeleton, axon, plasma membrane, cytoskeleton, cytoplasm, cytoplasm, Golgi cis cisterna, GO:0045159, GO:0031267, GO:0019901, GO:0005515, GO:0005198, GO:0005096, GO:0005096, myosin II binding, small GTPase binding, protein kinase binding, protein binding, structural molecule activity, GTPase activator activity, GTPase activator activity, GO:0065003, GO:0051294, GO:0050708, GO:0043547, GO:0032878, GO:0030866, GO:0030866, GO:0008593, GO:0007409, GO:0006893, GO:0006887, protein-containing complex assembly, establishment of spindle orientation, regulation of protein secretion, positive regulation of GTPase activity, regulation of establishment or maintenance of cell polarity, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, regulation of Notch signaling pathway, axonogenesis, Golgi to plasma membrane transport, exocytosis, 69 68 65 49 62 117 62 58 67 ENSG00000131910 chr1 26911489 26913966 - NR0B2 protein_coding The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]. 8431 GO:0032991, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0140416, GO:0046966, GO:0046965, GO:0044877, GO:0042975, GO:0042803, GO:0019904, GO:0008134, GO:0005515, GO:0003714, GO:0003714, GO:0003714, transcription regulator inhibitor activity, thyroid hormone receptor binding, retinoid X receptor binding, protein-containing complex binding, peroxisome proliferator activated receptor binding, protein homodimerization activity, protein domain specific binding, transcription factor binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, GO:0045893, GO:0045892, GO:0045471, GO:0043433, GO:0043433, GO:0032922, GO:0032024, GO:0031100, GO:0015721, GO:0014070, GO:0010629, GO:0010628, GO:0009749, GO:0008203, GO:0007623, GO:0007623, GO:0007219, GO:0006367, GO:0000122, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, response to ethanol, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA-binding transcription factor activity, circadian regulation of gene expression, positive regulation of insulin secretion, animal organ regeneration, bile acid and bile salt transport, response to organic cyclic compound, negative regulation of gene expression, positive regulation of gene expression, response to glucose, cholesterol metabolic process, circadian rhythm, circadian rhythm, Notch signaling pathway, transcription initiation from RNA polymerase II promoter, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000131914 chr1 26410778 26429722 + LIN28A protein_coding This gene encodes a LIN-28 family RNA-binding protein that acts as a posttranscriptional regulator of genes involved in developmental timing and self-renewal in embryonic stem cells. The encoded protein functions through direct interaction with target mRNAs and by disrupting the maturation of certain miRNAs involved in embryonic development. This protein prevents the terminal processing of the LET7 family of microRNAs which are major regulators of cellular growth and differentiation. Aberrant expression of this gene is associated with cancer progression in multiple tissues. [provided by RefSeq, Sep 2015]. 79727 GO:1990904, GO:0010494, GO:0005844, GO:0005829, GO:0005829, GO:0005791, GO:0005737, GO:0005730, GO:0005634, GO:0000932, ribonucleoprotein complex, cytoplasmic stress granule, polysome, cytosol, cytosol, rough endoplasmic reticulum, cytoplasm, nucleolus, nucleus, P-body, GO:1990825, GO:1905538, GO:0035198, GO:0031369, GO:0008270, GO:0005515, GO:0003723, GO:0002151, sequence-specific mRNA binding, polysome binding, miRNA binding, translation initiation factor binding, zinc ion binding, protein binding, RNA binding, G-quadruplex RNA binding, GO:2000767, GO:1903800, GO:1901724, GO:0071333, GO:0071076, GO:0051897, GO:0048863, GO:0045686, GO:0045666, GO:0035019, GO:0032008, GO:0031123, GO:0031054, GO:0019827, GO:0017148, GO:0010587, GO:0007281, positive regulation of cytoplasmic translation, positive regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of cell proliferation involved in kidney development, cellular response to glucose stimulus, RNA 3' uridylation, positive regulation of protein kinase B signaling, stem cell differentiation, negative regulation of glial cell differentiation, positive regulation of neuron differentiation, somatic stem cell population maintenance, positive regulation of TOR signaling, RNA 3'-end processing, pre-miRNA processing, stem cell population maintenance, negative regulation of translation, miRNA catabolic process, germ cell development, 0 0 1 2 0 0 0 1 0 ENSG00000131931 chr8 42836674 42843325 - THAP1 protein_coding The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 55145 GO:0043231, GO:0016605, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000785, intracellular membrane-bounded organelle, PML body, nucleoplasm, nucleus, nucleus, fibrillar center, chromatin, GO:0043565, GO:0043565, GO:0042803, GO:0042802, GO:0008270, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000978, GO:0000978, sequence-specific DNA binding, sequence-specific DNA binding, protein homodimerization activity, identical protein binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007346, GO:0007049, GO:0006357, GO:0006355, GO:0006351, GO:0001935, GO:0000122, regulation of mitotic cell cycle, cell cycle, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, transcription, DNA-templated, endothelial cell proliferation, negative regulation of transcription by RNA polymerase II, 105 77 115 38 82 62 52 75 46 ENSG00000131941 chr19 32978593 33064888 - RHPN2 protein_coding This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]. 85415 GO:0048471, GO:0005829, perinuclear region of cytoplasm, cytosol, GO:0007165, signal transduction, 3 3 0 3 7 0 6 6 1 ENSG00000131943 chr19 29698886 29715789 - C19orf12 protein_coding This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 83636 GO:0031966, GO:0016021, GO:0005829, GO:0005783, GO:0005739, mitochondrial membrane, integral component of membrane, cytosol, endoplasmic reticulum, mitochondrion, GO:0051560, GO:0006979, GO:0006915, GO:0006914, mitochondrial calcium ion homeostasis, response to oxidative stress, apoptotic process, autophagy, 21 20 41 48 29 72 55 31 58 ENSG00000131944 chr19 32972209 32978222 + FAAP24 protein_coding FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]. 91442 GO:0043240, GO:0043240, GO:0043231, GO:0005654, GO:0005654, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, intracellular membrane-bounded organelle, nucleoplasm, nucleoplasm, GO:0005515, GO:0003682, GO:0003682, GO:0003677, protein binding, chromatin binding, chromatin binding, DNA binding, GO:0036297, interstrand cross-link repair, 23 29 26 8 35 30 15 25 20 ENSG00000131951 chr14 59919713 60063559 + LRRC9 protein_coding 341883 0 0 0 0 0 0 0 0 0 ENSG00000131966 chr14 58200080 58235636 + ACTR10 protein_coding 55860 GO:1904813, GO:1904115, GO:0035578, GO:0005869, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, axon cytoplasm, azurophil granule lumen, dynactin complex, cytosol, extracellular region, GO:0005515, protein binding, GO:0098958, GO:0043312, GO:0019886, GO:0007018, GO:0006888, retrograde axonal transport of mitochondrion, neutrophil degranulation, antigen processing and presentation of exogenous peptide antigen via MHC class II, microtubule-based movement, endoplasmic reticulum to Golgi vesicle-mediated transport, 299 215 320 222 257 218 180 251 198 ENSG00000131969 chr14 50872160 50904970 + ABHD12B protein_coding 145447 GO:0016020, GO:0005789, membrane, endoplasmic reticulum membrane, GO:0047372, GO:0008474, GO:0004622, acylglycerol lipase activity, palmitoyl-(protein) hydrolase activity, lysophospholipase activity, GO:0098734, GO:0052651, GO:0006660, macromolecule depalmitoylation, monoacylglycerol catabolic process, phosphatidylserine catabolic process, 28 32 39 23 36 34 37 34 27 ENSG00000131979 chr14 54842008 54902852 - GCH1 protein_coding This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]. 2643 GO:0044306, GO:0032991, GO:0031965, GO:0031410, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, neuron projection terminus, protein-containing complex, nuclear membrane, cytoplasmic vesicle, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0051019, GO:0044877, GO:0042803, GO:0042802, GO:0031369, GO:0030742, GO:0008270, GO:0008270, GO:0005525, GO:0005525, GO:0005515, GO:0005509, GO:0003934, GO:0003934, GO:0003924, mitogen-activated protein kinase binding, protein-containing complex binding, protein homodimerization activity, identical protein binding, translation initiation factor binding, GTP-dependent protein binding, zinc ion binding, zinc ion binding, GTP binding, GTP binding, protein binding, calcium ion binding, GTP cyclohydrolase I activity, GTP cyclohydrolase I activity, GTPase activity, GO:2000121, GO:0065003, GO:0051000, GO:0051000, GO:0050884, GO:0048265, GO:0046654, GO:0045776, GO:0042559, GO:0042416, GO:0042311, GO:0035998, GO:0034612, GO:0034341, GO:0032496, GO:0032496, GO:0014916, GO:0010460, GO:0008217, GO:0006809, GO:0006729, GO:0006729, GO:0006729, regulation of removal of superoxide radicals, protein-containing complex assembly, positive regulation of nitric-oxide synthase activity, positive regulation of nitric-oxide synthase activity, neuromuscular process controlling posture, response to pain, tetrahydrofolate biosynthetic process, negative regulation of blood pressure, pteridine-containing compound biosynthetic process, dopamine biosynthetic process, vasodilation, 7,8-dihydroneopterin 3'-triphosphate biosynthetic process, response to tumor necrosis factor, response to interferon-gamma, response to lipopolysaccharide, response to lipopolysaccharide, regulation of lung blood pressure, positive regulation of heart rate, regulation of blood pressure, nitric oxide biosynthetic process, tetrahydrobiopterin biosynthetic process, tetrahydrobiopterin biosynthetic process, tetrahydrobiopterin biosynthetic process, 178 129 651 276 152 464 255 112 235 ENSG00000131981 chr14 55124110 55145413 + LGALS3 protein_coding This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]. 3958 GO:0101003, GO:0070062, GO:0062023, GO:0062023, GO:0030667, GO:0016020, GO:0009986, GO:0005886, GO:0005743, GO:0005737, GO:0005737, GO:0005681, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0001772, GO:0001772, ficolin-1-rich granule membrane, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, secretory granule membrane, membrane, cell surface, plasma membrane, mitochondrial inner membrane, cytoplasm, cytoplasm, spliceosomal complex, nucleus, nucleus, extracellular space, extracellular space, extracellular region, immunological synapse, immunological synapse, GO:0043236, GO:0043236, GO:0042056, GO:0030246, GO:0019903, GO:0019863, GO:0019863, GO:0005515, GO:0004864, GO:0003723, laminin binding, laminin binding, chemoattractant activity, carbohydrate binding, protein phosphatase binding, IgE binding, IgE binding, protein binding, protein phosphatase inhibitor activity, RNA binding, GO:2001237, GO:2001237, GO:2001200, GO:2001189, GO:2000521, GO:1903614, GO:1903078, GO:1902041, GO:0090280, GO:0090280, GO:0071677, GO:0071674, GO:0070232, GO:0050918, GO:0050918, GO:0050860, GO:0048246, GO:0048246, GO:0048245, GO:0048245, GO:0045806, GO:0045806, GO:0045637, GO:0045087, GO:0043312, GO:0042129, GO:0031334, GO:0030855, GO:0030593, GO:0030593, GO:0008380, GO:0006397, GO:0002548, GO:0002548, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of dendritic cell differentiation, negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, negative regulation of immunological synapse formation, negative regulation of protein tyrosine phosphatase activity, positive regulation of protein localization to plasma membrane, regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of calcium ion import, positive regulation of calcium ion import, positive regulation of mononuclear cell migration, mononuclear cell migration, regulation of T cell apoptotic process, positive chemotaxis, positive chemotaxis, negative regulation of T cell receptor signaling pathway, macrophage chemotaxis, macrophage chemotaxis, eosinophil chemotaxis, eosinophil chemotaxis, negative regulation of endocytosis, negative regulation of endocytosis, regulation of myeloid cell differentiation, innate immune response, neutrophil degranulation, regulation of T cell proliferation, positive regulation of protein-containing complex assembly, epithelial cell differentiation, neutrophil chemotaxis, neutrophil chemotaxis, RNA splicing, mRNA processing, monocyte chemotaxis, monocyte chemotaxis, 52 129 106 133 145 146 144 184 82 ENSG00000131982 chr12 20449655 20450083 - UBE2L2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000132000 chr19 13931187 13953392 - PODNL1 protein_coding 79883 GO:0062023, GO:0005615, collagen-containing extracellular matrix, extracellular space, 1 5 6 8 7 6 0 8 6 ENSG00000132002 chr19 14514770 14529770 - DNAJB1 protein_coding This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 3337 GO:0098978, GO:0070062, GO:0061827, GO:0043197, GO:0043025, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, glutamatergic synapse, extracellular exosome, sperm head, dendritic spine, neuronal cell body, cytosol, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0051117, GO:0051087, GO:0051087, GO:0051082, GO:0051082, GO:0045296, GO:0044183, GO:0030544, GO:0030544, GO:0005515, GO:0003714, GO:0003714, GO:0001671, ATPase binding, chaperone binding, chaperone binding, unfolded protein binding, unfolded protein binding, cadherin binding, protein folding chaperone, Hsp70 protein binding, Hsp70 protein binding, protein binding, transcription corepressor activity, transcription corepressor activity, ATPase activator activity, GO:1900034, GO:0097201, GO:0090084, GO:0051085, GO:0051085, GO:0032781, GO:0030900, GO:0006986, GO:0000122, regulation of cellular response to heat, negative regulation of transcription from RNA polymerase II promoter in response to stress, negative regulation of inclusion body assembly, chaperone cofactor-dependent protein refolding, chaperone cofactor-dependent protein refolding, positive regulation of ATPase activity, forebrain development, response to unfolded protein, negative regulation of transcription by RNA polymerase II, 2723 4816 5053 30039 82702 28270 16700 27990 19300 ENSG00000132003 chr19 13795460 13832230 + ZSWIM4 protein_coding 65249 GO:0031462, Cul2-RING ubiquitin ligase complex, GO:0008270, zinc ion binding, GO:1902667, regulation of axon guidance, 179 131 291 152 122 190 98 105 181 ENSG00000132004 chr19 12688053 12696643 - FBXW9 protein_coding Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 84261 GO:0030687, GO:0005829, preribosome, large subunit precursor, cytosol, GO:0005515, protein binding, GO:0043687, GO:0000209, post-translational protein modification, protein polyubiquitination, 3 2 2 9 4 6 6 4 0 ENSG00000132005 chr19 13961538 14007039 - RFX1 protein_coding This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]. 5989 GO:0043231, GO:0005654, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006955, GO:0006357, immune response, regulation of transcription by RNA polymerase II, 706 732 896 643 736 815 713 496 626 ENSG00000132010 chr19 12092843 12140407 - ZNF20 protein_coding 7568 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 1 3 5 4 4 11 2 4 ENSG00000132016 chr19 13882348 13906452 - C19orf57 protein_coding 79173 GO:0005694, GO:0005575, chromosome, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1990918, GO:0007283, GO:0007275, double-strand break repair involved in meiotic recombination, spermatogenesis, multicellular organism development, 8 21 12 26 7 19 4 13 27 ENSG00000132017 chr19 13952492 13961449 + DCAF15 protein_coding 90379 GO:0080008, GO:0080008, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, GO:0046872, GO:0036094, GO:0005515, metal ion binding, small molecule binding, protein binding, GO:0032814, GO:0016567, GO:0002376, GO:0000209, regulation of natural killer cell activation, protein ubiquitination, immune system process, protein polyubiquitination, 511 520 680 685 732 802 629 675 690 ENSG00000132024 chr19 13906201 13930879 + CC2D1A protein_coding This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]. 54862 GO:0070062, GO:0016020, GO:0005886, GO:0005829, GO:0005815, GO:0005634, GO:0001650, extracellular exosome, membrane, plasma membrane, cytosol, microtubule organizing center, nucleus, fibrillar center, GO:0045296, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, cadherin binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1905381, GO:0043123, GO:0006357, negative regulation of snRNA transcription by RNA polymerase II, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of transcription by RNA polymerase II, 179 219 248 197 228 286 186 186 280 ENSG00000132026 chr19 12825478 12835428 - RTBDN protein_coding This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. 83546 GO:0033165, GO:0031362, interphotoreceptor matrix, anchored component of external side of plasma membrane, GO:1902444, GO:0038023, GO:0032217, riboflavin binding, signaling receptor activity, riboflavin transmembrane transporter activity, GO:0032218, riboflavin transport, 0 0 0 0 0 0 0 0 0 ENSG00000132031 chr2 19992111 20012694 - MATN3 protein_coding This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]. 4148 GO:0062023, GO:0031012, GO:0005788, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular region, GO:0005515, GO:0005509, GO:0005201, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0051216, GO:0044267, GO:0043687, GO:0030198, GO:0001501, cartilage development, cellular protein metabolic process, post-translational protein modification, extracellular matrix organization, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000132109 chr11 4384897 4393696 - TRIM21 protein_coding This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. 6737 GO:1990904, GO:0031410, GO:0019005, GO:0005829, GO:0005829, GO:0005776, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000932, ribonucleoprotein complex, cytoplasmic vesicle, SCF ubiquitin ligase complex, cytosol, cytosol, autophagosome, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, P-body, GO:0061630, GO:0042803, GO:0042802, GO:0019901, GO:0008270, GO:0005515, GO:0004842, GO:0004842, GO:0003723, GO:0003677, ubiquitin protein ligase activity, protein homodimerization activity, identical protein binding, protein kinase binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, RNA binding, DNA binding, GO:1902187, GO:0090086, GO:0060333, GO:0051865, GO:0051092, GO:0051091, GO:0046598, GO:0046596, GO:0045787, GO:0045087, GO:0045087, GO:0043123, GO:0034341, GO:0032897, GO:0032880, GO:0032479, GO:0032088, GO:0031648, GO:0016567, GO:0016567, GO:0010508, GO:0010508, GO:0010468, GO:0007049, GO:0006513, GO:0000209, GO:0000209, GO:0000209, negative regulation of viral release from host cell, negative regulation of protein deubiquitination, interferon-gamma-mediated signaling pathway, protein autoubiquitination, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of viral entry into host cell, regulation of viral entry into host cell, positive regulation of cell cycle, innate immune response, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, response to interferon-gamma, negative regulation of viral transcription, regulation of protein localization, regulation of type I interferon production, negative regulation of NF-kappaB transcription factor activity, protein destabilization, protein ubiquitination, protein ubiquitination, positive regulation of autophagy, positive regulation of autophagy, regulation of gene expression, cell cycle, protein monoubiquitination, protein polyubiquitination, protein polyubiquitination, protein polyubiquitination, 970 576 1098 266 374 354 274 334 240 ENSG00000132122 chr1 48295372 48472208 - SPATA6 protein_coding 54558 GO:0097224, GO:0097224, GO:0005576, sperm connecting piece, sperm connecting piece, extracellular region, GO:0032027, myosin light chain binding, GO:0044458, GO:0044458, GO:0030154, GO:0007283, GO:0007283, GO:0007275, motile cilium assembly, motile cilium assembly, cell differentiation, spermatogenesis, spermatogenesis, multicellular organism development, 101 103 97 60 78 43 70 76 41 ENSG00000132128 chr1 46261196 46303608 - LRRC41 protein_coding 10489 GO:0016020, GO:0005829, GO:0005737, GO:0005634, membrane, cytosol, cytoplasm, nucleus, GO:0005515, protein binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 55 82 123 111 76 118 73 49 97 ENSG00000132141 chr17 34927859 34981078 - CCT6B protein_coding This gene encodes a molecular chaperone that is a member of the chaperonin-containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 10693 GO:0005832, GO:0005829, chaperonin-containing T-complex, cytosol, GO:0051082, GO:0005524, unfolded protein binding, ATP binding, GO:1901998, GO:0006457, toxin transport, protein folding, 10 13 8 3 24 14 24 7 10 ENSG00000132153 chr3 47802909 47850195 + DHX30 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]. 22907 GO:0042645, GO:0035770, GO:0005829, GO:0005739, GO:0005737, GO:0005622, mitochondrial nucleoid, ribonucleoprotein granule, cytosol, mitochondrion, cytoplasm, intracellular anatomical structure, GO:0005524, GO:0005515, GO:0003725, GO:0003724, GO:0003723, GO:0003723, GO:0003723, GO:0003682, ATP binding, protein binding, double-stranded RNA binding, RNA helicase activity, RNA binding, RNA binding, RNA binding, chromatin binding, GO:1902775, GO:0007417, mitochondrial large ribosomal subunit assembly, central nervous system development, 60 79 102 161 112 155 136 103 128 ENSG00000132155 chr3 12583601 12664226 - RAF1 protein_coding This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]. 5894 GO:0031143, GO:0016607, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005741, GO:0005739, GO:0005737, GO:0005737, pseudopodium, nuclear speck, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, Golgi apparatus, mitochondrial outer membrane, mitochondrion, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0046872, GO:0044877, GO:0042802, GO:0031434, GO:0031267, GO:0019899, GO:0010856, GO:0008179, GO:0005524, GO:0005515, GO:0004709, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, protein-containing complex binding, identical protein binding, mitogen-activated protein kinase kinase binding, small GTPase binding, enzyme binding, adenylate cyclase activator activity, adenylate cyclase binding, ATP binding, protein binding, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000145, GO:1902042, GO:0071550, GO:0060324, GO:0048538, GO:0048011, GO:0045944, GO:0045595, GO:0045104, GO:0043154, GO:0043066, GO:0042981, GO:0042060, GO:0035994, GO:0035773, GO:0035023, GO:0035019, GO:0034220, GO:0033138, GO:0031333, GO:0030878, GO:0030168, GO:0030154, GO:0008285, GO:0007507, GO:0007190, GO:0007165, GO:0006915, GO:0006468, GO:0002223, GO:0001666, GO:0000186, GO:0000165, regulation of cell motility, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, death-inducing signaling complex assembly, face development, thymus development, neurotrophin TRK receptor signaling pathway, positive regulation of transcription by RNA polymerase II, regulation of cell differentiation, intermediate filament cytoskeleton organization, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, regulation of apoptotic process, wound healing, response to muscle stretch, insulin secretion involved in cellular response to glucose stimulus, regulation of Rho protein signal transduction, somatic stem cell population maintenance, ion transmembrane transport, positive regulation of peptidyl-serine phosphorylation, negative regulation of protein-containing complex assembly, thyroid gland development, platelet activation, cell differentiation, negative regulation of cell population proliferation, heart development, activation of adenylate cyclase activity, signal transduction, apoptotic process, protein phosphorylation, stimulatory C-type lectin receptor signaling pathway, response to hypoxia, activation of MAPKK activity, MAPK cascade, 6883 7235 8549 7654 11464 10368 7606 7082 7620 ENSG00000132164 chr3 10816200 10940733 + SLC6A11 protein_coding The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 6538 GO:0099056, GO:0099055, GO:0098982, GO:0043005, GO:0016021, GO:0005886, GO:0005886, GO:0005737, integral component of presynaptic membrane, integral component of postsynaptic membrane, GABA-ergic synapse, neuron projection, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042165, GO:0008028, GO:0005332, neurotransmitter binding, monocarboxylic acid transmembrane transporter activity, gamma-aminobutyric acid:sodium symporter activity, GO:0042493, GO:0035725, GO:0015812, GO:0015718, GO:0007420, GO:0001504, response to drug, sodium ion transmembrane transport, gamma-aminobutyric acid transport, monocarboxylic acid transport, brain development, neurotransmitter uptake, 0 0 0 0 0 0 0 0 0 ENSG00000132170 chr3 12287368 12434356 + PPARG protein_coding This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]. 5468 GO:0090575, GO:0048471, GO:0043235, GO:0043231, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, perinuclear region of cytoplasm, receptor complex, intracellular membrane-bounded organelle, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0070888, GO:0051393, GO:0050693, GO:0050692, GO:0050544, GO:0046965, GO:0046965, GO:0043621, GO:0043565, GO:0042802, GO:0042277, GO:0033613, GO:0030331, GO:0019903, GO:0019899, GO:0008270, GO:0008144, GO:0008134, GO:0008022, GO:0005515, GO:0004955, GO:0004879, GO:0004879, GO:0003700, GO:0003700, GO:0003690, GO:0003682, GO:0003677, GO:0001227, GO:0001103, GO:0000981, GO:0000978, GO:0000976, GO:0000976, E-box binding, alpha-actinin binding, LBD domain binding, DNA binding domain binding, arachidonic acid binding, retinoid X receptor binding, retinoid X receptor binding, protein self-association, sequence-specific DNA binding, identical protein binding, peptide binding, activating transcription factor binding, estrogen receptor binding, protein phosphatase binding, enzyme binding, zinc ion binding, drug binding, transcription factor binding, protein C-terminus binding, protein binding, prostaglandin receptor activity, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, double-stranded DNA binding, chromatin binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II repressing transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000230, GO:1905563, GO:1905461, GO:1904706, GO:1904706, GO:1902895, GO:1901558, GO:0071455, GO:0071404, GO:0071380, GO:0071306, GO:0071300, GO:0060965, GO:0060694, GO:0060336, GO:0060100, GO:0055088, GO:0051974, GO:0051091, GO:0050872, GO:0050872, GO:0050728, GO:0048714, GO:0048662, GO:0048511, GO:0048469, GO:0048384, GO:0046321, GO:0045944, GO:0045944, GO:0045944, GO:0045923, GO:0045893, GO:0045893, GO:0045892, GO:0045668, GO:0045600, GO:0045165, GO:0045087, GO:0043627, GO:0043537, GO:0043388, GO:0042953, GO:0042752, GO:0042594, GO:0042593, GO:0042493, GO:0035902, GO:0035357, GO:0033993, GO:0033993, GO:0033189, GO:0032966, GO:0032869, GO:0032869, GO:0031100, GO:0031000, GO:0030855, GO:0030514, GO:0030308, GO:0030224, GO:0030154, GO:0019395, GO:0019216, GO:0016525, GO:0015909, GO:0010891, GO:0010887, GO:0010887, GO:0010745, GO:0010745, GO:0010742, GO:0009755, GO:0009612, GO:0009409, GO:0008217, GO:0007584, GO:0007507, GO:0007186, GO:0007165, GO:0006919, GO:0006631, GO:0006629, GO:0006367, GO:0006357, GO:0002674, GO:0001890, GO:0000122, GO:0000122, GO:0000122, negative regulation of pancreatic stellate cell proliferation, negative regulation of vascular endothelial cell proliferation, positive regulation of vascular associated smooth muscle cell apoptotic process, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of pri-miRNA transcription by RNA polymerase II, response to metformin, cellular response to hyperoxia, cellular response to low-density lipoprotein particle stimulus, cellular response to prostaglandin E stimulus, cellular response to vitamin E, cellular response to retinoic acid, negative regulation of gene silencing by miRNA, regulation of cholesterol transporter activity, negative regulation of interferon-gamma-mediated signaling pathway, positive regulation of phagocytosis, engulfment, lipid homeostasis, negative regulation of telomerase activity, positive regulation of DNA-binding transcription factor activity, white fat cell differentiation, white fat cell differentiation, negative regulation of inflammatory response, positive regulation of oligodendrocyte differentiation, negative regulation of smooth muscle cell proliferation, rhythmic process, cell maturation, retinoic acid receptor signaling pathway, positive regulation of fatty acid oxidation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of fatty acid metabolic process, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, positive regulation of fat cell differentiation, cell fate commitment, innate immune response, response to estrogen, negative regulation of blood vessel endothelial cell migration, positive regulation of DNA binding, lipoprotein transport, regulation of circadian rhythm, response to starvation, glucose homeostasis, response to drug, response to immobilization stress, peroxisome proliferator activated receptor signaling pathway, response to lipid, response to lipid, response to vitamin A, negative regulation of collagen biosynthetic process, cellular response to insulin stimulus, cellular response to insulin stimulus, animal organ regeneration, response to caffeine, epithelial cell differentiation, negative regulation of BMP signaling pathway, negative regulation of cell growth, monocyte differentiation, cell differentiation, fatty acid oxidation, regulation of lipid metabolic process, negative regulation of angiogenesis, long-chain fatty acid transport, negative regulation of sequestering of triglyceride, negative regulation of cholesterol storage, negative regulation of cholesterol storage, negative regulation of macrophage derived foam cell differentiation, negative regulation of macrophage derived foam cell differentiation, macrophage derived foam cell differentiation, hormone-mediated signaling pathway, response to mechanical stimulus, response to cold, regulation of blood pressure, response to nutrient, heart development, G protein-coupled receptor signaling pathway, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, fatty acid metabolic process, lipid metabolic process, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, negative regulation of acute inflammatory response, placenta development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 1 0 0 0 0 0 1 0 ENSG00000132182 chr3 13316235 13420309 - NUP210 protein_coding The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]. 23225 GO:0043657, GO:0031965, GO:0016021, GO:0016020, GO:0005789, GO:0005643, GO:0005635, host cell, nuclear membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, nuclear pore, nuclear envelope, GO:1900034, GO:0075733, GO:0065003, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, protein-containing complex assembly, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 188 163 417 481 188 565 447 148 463 ENSG00000132185 chr1 161706972 161714352 + FCRLA protein_coding This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 84824 GO:0005887, GO:0005737, integral component of plasma membrane, cytoplasm, GO:0004888, transmembrane signaling receptor activity, GO:0030154, GO:0007166, cell differentiation, cell surface receptor signaling pathway, 0 3 1 0 17 11 14 26 3 ENSG00000132196 chr1 162790702 162812817 + HSD17B7 protein_coding HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]. 51478 GO:0016021, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0047024, GO:0004303, GO:0000253, GO:0000253, GO:0000253, 5alpha-androstane-3beta,17beta-diol dehydrogenase activity, estradiol 17-beta-dehydrogenase activity, 3-keto sterol reductase activity, 3-keto sterol reductase activity, 3-keto sterol reductase activity, GO:0055114, GO:0048568, GO:0008209, GO:0007420, GO:0006703, GO:0006703, GO:0006695, GO:0006695, GO:0006695, oxidation-reduction process, embryonic organ development, androgen metabolic process, brain development, estrogen biosynthetic process, estrogen biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, 55 72 89 63 75 80 64 48 30 ENSG00000132199 chr18 670324 712676 - ENOSF1 protein_coding This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]. 55556 GO:0005739, GO:0005575, mitochondrion, cellular_component, GO:0050023, GO:0016853, GO:0016836, GO:0000287, GO:0000287, L-fuconate dehydratase activity, isomerase activity, hydro-lyase activity, magnesium ion binding, magnesium ion binding, GO:0044275, GO:0016052, GO:0009063, cellular carbohydrate catabolic process, carbohydrate catabolic process, cellular amino acid catabolic process, 21 15 42 90 23 118 53 30 50 ENSG00000132204 chr18 1254383 1408344 - LINC00470 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000132205 chr18 2847030 2915993 + EMILIN2 protein_coding 84034 GO:0062023, GO:0005581, GO:0005576, collagen-containing extracellular matrix, collagen trimer, extracellular region, GO:0030023, GO:0030023, GO:0005515, extracellular matrix constituent conferring elasticity, extracellular matrix constituent conferring elasticity, protein binding, GO:0008150, GO:0007155, biological_process, cell adhesion, 624 372 371 258 246 255 315 195 170 ENSG00000132207 chr16 30193887 30197561 + SLX1A protein_coding This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010]. 548593 GO:0033557, GO:0033557, GO:0033557, GO:0005654, GO:0005654, Slx1-Slx4 complex, Slx1-Slx4 complex, Slx1-Slx4 complex, nucleoplasm, nucleoplasm, GO:0046872, GO:0017108, GO:0017108, GO:0008821, GO:0008821, GO:0005515, metal ion binding, 5'-flap endonuclease activity, 5'-flap endonuclease activity, crossover junction endodeoxyribonuclease activity, crossover junction endodeoxyribonuclease activity, protein binding, GO:1904431, GO:1904357, GO:0090656, GO:0090656, GO:0090305, GO:0061820, GO:0036297, GO:0010833, GO:0010792, GO:0006281, GO:0000724, GO:0000724, positive regulation of t-circle formation, negative regulation of telomere maintenance via telomere lengthening, t-circle formation, t-circle formation, nucleic acid phosphodiester bond hydrolysis, telomeric D-loop disassembly, interstrand cross-link repair, telomere maintenance via telomere lengthening, DNA double-strand break processing involved in repair via single-strand annealing, DNA repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 0 0 0 1 0 0 2 0 0 ENSG00000132254 chr11 6474683 6481479 - ARFIP2 protein_coding 23647 GO:0032588, GO:0032588, GO:0005938, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0001726, trans-Golgi network membrane, trans-Golgi network membrane, cell cortex, plasma membrane, cytosol, cytoplasm, cytoplasm, ruffle, GO:0140090, GO:0070273, GO:0045296, GO:0042802, GO:0031267, GO:0030742, GO:0019904, GO:0005543, GO:0005525, GO:0005515, membrane curvature sensor activity, phosphatidylinositol-4-phosphate binding, cadherin binding, identical protein binding, small GTPase binding, GTP-dependent protein binding, protein domain specific binding, phospholipid binding, GTP binding, protein binding, GO:0034315, GO:0031529, GO:0030036, GO:0030032, GO:0007264, GO:0006914, GO:0006886, regulation of Arp2/3 complex-mediated actin nucleation, ruffle organization, actin cytoskeleton organization, lamellipodium assembly, small GTPase mediated signal transduction, autophagy, intracellular protein transport, 130 142 133 165 157 153 165 134 106 ENSG00000132256 chr11 5663557 5938619 - TRIM5 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009]. 85363 GO:1990462, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0000932, omegasome, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, P-body, GO:0061630, GO:0042803, GO:0042803, GO:0042802, GO:0038187, GO:0030674, GO:0019901, GO:0019901, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, protein homodimerization activity, protein homodimerization activity, identical protein binding, pattern recognition receptor activity, protein-macromolecule adaptor activity, protein kinase binding, protein kinase binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:1902187, GO:0070534, GO:0060333, GO:0051607, GO:0051092, GO:0051092, GO:0051091, GO:0046597, GO:0046596, GO:0045087, GO:0045087, GO:0043410, GO:0043123, GO:0043123, GO:0043123, GO:0032880, GO:0032880, GO:0031664, GO:0016567, GO:0016032, GO:0010508, GO:0010468, GO:0006914, GO:0002218, GO:0000209, negative regulation of viral release from host cell, protein K63-linked ubiquitination, interferon-gamma-mediated signaling pathway, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, negative regulation of viral entry into host cell, regulation of viral entry into host cell, innate immune response, innate immune response, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of protein localization, regulation of protein localization, regulation of lipopolysaccharide-mediated signaling pathway, protein ubiquitination, viral process, positive regulation of autophagy, regulation of gene expression, autophagy, activation of innate immune response, protein polyubiquitination, 216 169 266 84 94 102 119 95 81 ENSG00000132259 chr11 6234765 6244429 + CNGA4 protein_coding CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008]. 1262 GO:0060170, GO:0030660, GO:0016021, GO:0000139, ciliary membrane, Golgi-associated vesicle membrane, integral component of membrane, Golgi membrane, GO:0030553, GO:0030552, GO:0005223, GO:0005222, cGMP binding, cAMP binding, intracellular cGMP-activated cation channel activity, intracellular cAMP-activated cation channel activity, GO:0098655, GO:0050896, GO:0007608, cation transmembrane transport, response to stimulus, sensory perception of smell, 2 3 9 11 8 0 1 4 6 ENSG00000132274 chr11 5689689 5737089 + TRIM22 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein down-regulates transcription from the HIV-1 LTR promoter region, suggesting that function of this protein may be to mediate interferon's antiviral effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. 10346 GO:0016607, GO:0016604, GO:0015030, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, nuclear speck, nuclear body, Cajal body, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0061630, GO:0042803, GO:0042802, GO:0030674, GO:0019901, GO:0019901, GO:0008270, GO:0005515, GO:0003714, ubiquitin protein ligase activity, protein homodimerization activity, identical protein binding, protein-macromolecule adaptor activity, protein kinase binding, protein kinase binding, zinc ion binding, protein binding, transcription corepressor activity, GO:1903507, GO:0060333, GO:0051607, GO:0051092, GO:0051092, GO:0051091, GO:0046596, GO:0045087, GO:0043123, GO:0043123, GO:0032880, GO:0032880, GO:0016567, GO:0016032, GO:0010508, GO:0010508, GO:0010468, GO:0009615, GO:0006955, GO:0006355, GO:0000209, negative regulation of nucleic acid-templated transcription, interferon-gamma-mediated signaling pathway, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, regulation of viral entry into host cell, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of protein localization, regulation of protein localization, protein ubiquitination, viral process, positive regulation of autophagy, positive regulation of autophagy, regulation of gene expression, response to virus, immune response, regulation of transcription, DNA-templated, protein polyubiquitination, 1660 1156 2205 1743 1359 2164 1811 1002 1844 ENSG00000132275 chr11 6595075 6603620 - RRP8 protein_coding 23378 GO:0033553, GO:0033553, GO:0005886, GO:0005829, GO:0005730, GO:0005730, GO:0005677, GO:0005677, GO:0005654, GO:0005654, rDNA heterochromatin, rDNA heterochromatin, plasma membrane, cytosol, nucleolus, nucleolus, chromatin silencing complex, chromatin silencing complex, nucleoplasm, nucleoplasm, GO:0035064, GO:0035064, GO:0008757, GO:0005515, GO:0003723, methylated histone binding, methylated histone binding, S-adenosylmethionine-dependent methyltransferase activity, protein binding, RNA binding, GO:0072332, GO:0071158, GO:0046015, GO:0046015, GO:0042149, GO:0042149, GO:0032259, GO:0006364, GO:0000183, GO:0000183, GO:0000183, intrinsic apoptotic signaling pathway by p53 class mediator, positive regulation of cell cycle arrest, regulation of transcription by glucose, regulation of transcription by glucose, cellular response to glucose starvation, cellular response to glucose starvation, methylation, rRNA processing, rDNA heterochromatin assembly, rDNA heterochromatin assembly, rDNA heterochromatin assembly, 78 74 71 70 94 78 61 50 62 ENSG00000132286 chr11 6481447 6484679 + TIMM10B protein_coding FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]. 26515 GO:0042721, GO:0042719, GO:0042719, GO:0005758, GO:0005743, GO:0005743, TIM22 mitochondrial import inner membrane insertion complex, mitochondrial intermembrane space protein transporter complex, mitochondrial intermembrane space protein transporter complex, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial inner membrane, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0007160, GO:0006626, cell-matrix adhesion, protein targeting to mitochondrion, 128 165 159 145 188 168 224 247 154 ENSG00000132294 chr8 131904088 132013642 + EFR3A protein_coding The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]. 23167 GO:0005886, GO:0005886, GO:0005829, plasma membrane, plasma membrane, cytosol, GO:0072659, GO:0072659, GO:0046854, protein localization to plasma membrane, protein localization to plasma membrane, phosphatidylinositol phosphorylation, 429 462 635 397 469 555 460 310 384 ENSG00000132297 chr8 132061486 132111159 - HHLA1 protein_coding 10086 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000132300 chr2 86106182 86142157 + PTCD3 protein_coding 55037 GO:0005886, GO:0005840, GO:0005829, GO:0005743, GO:0005739, GO:0005739, GO:0005654, plasma membrane, ribosome, cytosol, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0043024, GO:0043024, GO:0019843, GO:0019843, GO:0005515, GO:0003723, ribosomal small subunit binding, ribosomal small subunit binding, rRNA binding, rRNA binding, protein binding, RNA binding, GO:0070126, GO:0070125, GO:0032543, GO:0032543, GO:0006417, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, mitochondrial translation, regulation of translation, 62 63 137 182 78 187 141 86 142 ENSG00000132305 chr2 86143932 86195770 - IMMT protein_coding 10989 GO:0140275, GO:0061617, GO:0061617, GO:0061617, GO:0016020, GO:0005758, GO:0005743, GO:0005739, GO:0005739, GO:0001401, MIB complex, MICOS complex, MICOS complex, MICOS complex, membrane, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, mitochondrion, SAM complex, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0051560, GO:0042407, GO:0042407, GO:0007007, mitochondrial calcium ion homeostasis, cristae formation, cristae formation, inner mitochondrial membrane organization, 65 85 95 155 110 131 119 45 72 ENSG00000132313 chr2 86199355 86213794 + MRPL35 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]. 51318 GO:0005762, GO:0005761, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 13 11 21 16 5 48 20 12 5 ENSG00000132321 chr2 236324147 236507542 - IQCA1 protein_coding The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 79781 GO:0031514, GO:0005856, GO:0005737, motile cilium, cytoskeleton, cytoplasm, GO:0016887, GO:0005524, ATPase activity, ATP binding, 0 0 0 0 0 0 0 0 0 ENSG00000132323 chr2 238170401 238203729 - ILKAP protein_coding The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]. 80895 GO:0005829, GO:0005829, GO:0005654, GO:0005634, cytosol, cytosol, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004724, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, magnesium-dependent protein serine/threonine phosphatase activity, GO:0006470, GO:0006470, protein dephosphorylation, protein dephosphorylation, 117 141 207 145 111 189 130 122 103 ENSG00000132326 chr2 238244038 238290102 - PER2 protein_coding This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]. 8864 GO:0048471, GO:0005737, GO:0005730, GO:0005634, GO:0005634, GO:0005634, perinuclear region of cytoplasm, cytoplasm, nucleolus, nucleus, nucleus, nucleus, GO:0005515, GO:0003713, GO:0001222, GO:0000976, GO:0000976, protein binding, transcription coactivator activity, transcription corepressor binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000678, GO:1903508, GO:0120162, GO:0097167, GO:0070932, GO:0070345, GO:0051946, GO:0051726, GO:0050872, GO:0050796, GO:0050767, GO:0045892, GO:0043153, GO:0042754, GO:0042752, GO:0032922, GO:0032922, GO:0031397, GO:0019249, GO:0019229, GO:0007623, GO:0006631, GO:0006094, GO:0005978, GO:0002931, GO:0000122, GO:0000122, negative regulation of transcription regulatory region DNA binding, positive regulation of nucleic acid-templated transcription, positive regulation of cold-induced thermogenesis, circadian regulation of translation, histone H3 deacetylation, negative regulation of fat cell proliferation, regulation of glutamate uptake involved in transmission of nerve impulse, regulation of cell cycle, white fat cell differentiation, regulation of insulin secretion, regulation of neurogenesis, negative regulation of transcription, DNA-templated, entrainment of circadian clock by photoperiod, negative regulation of circadian rhythm, regulation of circadian rhythm, circadian regulation of gene expression, circadian regulation of gene expression, negative regulation of protein ubiquitination, lactate biosynthetic process, regulation of vasoconstriction, circadian rhythm, fatty acid metabolic process, gluconeogenesis, glycogen biosynthetic process, response to ischemia, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 110 101 207 134 123 199 140 94 119 ENSG00000132329 chr2 237858893 237912114 + RAMP1 protein_coding The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 10267 GO:1990406, GO:0150056, GO:0043235, GO:0043235, GO:0009986, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005615, CGRP receptor complex, amylin receptor complex 1, receptor complex, receptor complex, cell surface, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:1990407, GO:0097643, GO:0097643, GO:0015026, GO:0005515, GO:0001635, calcitonin gene-related peptide binding, amylin receptor activity, amylin receptor activity, coreceptor activity, protein binding, calcitonin gene-related peptide receptor activity, GO:1990408, GO:0097647, GO:0097647, GO:0072659, GO:0072659, GO:0060050, GO:0032870, GO:0032092, GO:0031623, GO:0031623, GO:0015031, GO:0015031, GO:0008277, GO:0007189, GO:0007189, GO:0007189, GO:0007186, GO:0007186, GO:0006886, GO:0006816, GO:0006816, GO:0001525, GO:0001525, calcitonin gene-related peptide receptor signaling pathway, amylin receptor signaling pathway, amylin receptor signaling pathway, protein localization to plasma membrane, protein localization to plasma membrane, positive regulation of protein glycosylation, cellular response to hormone stimulus, positive regulation of protein binding, receptor internalization, receptor internalization, protein transport, protein transport, regulation of G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, intracellular protein transport, calcium ion transport, calcium ion transport, angiogenesis, angiogenesis, 1 1 0 4 2 0 0 0 0 ENSG00000132330 chr2 238060889 238099413 + SCLY protein_coding Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008]. 51540 GO:0005829, cytosol, GO:0016740, GO:0009000, GO:0005515, transferase activity, selenocysteine lyase activity, protein binding, GO:0006520, GO:0001887, cellular amino acid metabolic process, selenium compound metabolic process, 4 10 9 19 15 14 28 14 7 ENSG00000132334 chr10 127907061 128085855 + PTPRE protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]. 5791 GO:0016021, GO:0005886, GO:0005737, GO:0005634, integral component of membrane, plasma membrane, cytoplasm, nucleus, GO:0005515, GO:0005001, GO:0004725, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0046627, GO:0035335, GO:0006470, negative regulation of insulin receptor signaling pathway, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, 12447 11445 19163 8239 10687 15558 10073 7442 12986 ENSG00000132341 chr12 130871879 130877678 + RAN protein_coding RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules. RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq, Jul 2008]. 5901 GO:0090543, GO:0070062, GO:0055037, GO:0043657, GO:0042565, GO:0042470, GO:0032991, GO:0032991, GO:0030496, GO:0016020, GO:0005829, GO:0005814, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005643, GO:0005635, GO:0005634, GO:0005634, GO:0005634, GO:0000785, Flemming body, extracellular exosome, recycling endosome, host cell, RNA nuclear export complex, melanosome, protein-containing complex, protein-containing complex, midbody, membrane, cytosol, centriole, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nuclear pore, nuclear envelope, nucleus, nucleus, nucleus, chromatin, GO:0070883, GO:0046982, GO:0045296, GO:0019003, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0005049, GO:0003924, GO:0003924, GO:0003924, GO:0003723, GO:0003682, GO:0000287, pre-miRNA binding, protein heterodimerization activity, cadherin binding, GDP binding, GDP binding, GTP binding, GTP binding, protein binding, nuclear export signal receptor activity, GTPase activity, GTPase activity, GTPase activity, RNA binding, chromatin binding, magnesium ion binding, GO:1902570, GO:0075733, GO:0061015, GO:0051301, GO:0046039, GO:0045540, GO:0042307, GO:0035281, GO:0034629, GO:0032092, GO:0030036, GO:0016032, GO:0010586, GO:0007052, GO:0006611, GO:0006606, GO:0006606, GO:0006606, GO:0006409, GO:0006259, GO:0000278, GO:0000070, GO:0000056, GO:0000055, GO:0000054, protein localization to nucleolus, intracellular transport of virus, snRNA import into nucleus, cell division, GTP metabolic process, regulation of cholesterol biosynthetic process, positive regulation of protein import into nucleus, pre-miRNA export from nucleus, cellular protein-containing complex localization, positive regulation of protein binding, actin cytoskeleton organization, viral process, miRNA metabolic process, mitotic spindle organization, protein export from nucleus, protein import into nucleus, protein import into nucleus, protein import into nucleus, tRNA export from nucleus, DNA metabolic process, mitotic cell cycle, mitotic sister chromatid segregation, ribosomal small subunit export from nucleus, ribosomal large subunit export from nucleus, ribosomal subunit export from nucleus, 158 143 252 404 257 358 297 215 313 ENSG00000132356 chr5 40759379 40798374 - PRKAA1 protein_coding The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 5562 GO:0043025, GO:0031588, GO:0031588, GO:0030425, GO:0030424, GO:0016607, GO:0016324, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, neuronal cell body, nucleotide-activated protein kinase complex, nucleotide-activated protein kinase complex, dendrite, axon, nuclear speck, apical plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0050405, GO:0050321, GO:0048156, GO:0047322, GO:0046872, GO:0044877, GO:0035174, GO:0008022, GO:0005524, GO:0005515, GO:0004691, GO:0004679, GO:0004679, GO:0004679, GO:0004674, GO:0004672, GO:0003682, protein threonine kinase activity, protein serine kinase activity, [acetyl-CoA carboxylase] kinase activity, tau-protein kinase activity, tau protein binding, [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity, metal ion binding, protein-containing complex binding, histone serine kinase activity, protein C-terminus binding, ATP binding, protein binding, cAMP-dependent protein kinase activity, AMP-activated protein kinase activity, AMP-activated protein kinase activity, AMP-activated protein kinase activity, protein serine/threonine kinase activity, protein kinase activity, chromatin binding, GO:2000758, GO:1904486, GO:1904428, GO:1903955, GO:1903829, GO:1903109, GO:1901796, GO:1901563, GO:0120188, GO:0097009, GO:0097009, GO:0071456, GO:0071417, GO:0071380, GO:0071361, GO:0071333, GO:0071277, GO:0070507, GO:0070301, GO:0070050, GO:0062028, GO:0061762, GO:0061762, GO:0061762, GO:0061744, GO:0060627, GO:0055089, GO:0050995, GO:0048643, GO:0048511, GO:0046627, GO:0046318, GO:0045821, GO:0045542, GO:0043066, GO:0042752, GO:0042593, GO:0042149, GO:0038183, GO:0035690, GO:0035556, GO:0035404, GO:0034599, GO:0033135, GO:0032007, GO:0031669, GO:0031000, GO:0019395, GO:0016241, GO:0016236, GO:0016055, GO:0015721, GO:0014823, GO:0010629, GO:0010628, GO:0010508, GO:0010508, GO:0010508, GO:0010332, GO:0009631, GO:0009411, GO:0008610, GO:0008284, GO:0007165, GO:0007050, GO:0006695, GO:0006633, GO:0006468, GO:0006468, GO:0006006, GO:0001666, GO:0000187, positive regulation of peptidyl-lysine acetylation, response to 17alpha-ethynylestradiol, negative regulation of tubulin deacetylation, positive regulation of protein targeting to mitochondrion, positive regulation of cellular protein localization, positive regulation of mitochondrial transcription, regulation of signal transduction by p53 class mediator, response to camptothecin, regulation of bile acid secretion, energy homeostasis, energy homeostasis, cellular response to hypoxia, cellular response to organonitrogen compound, cellular response to prostaglandin E stimulus, cellular response to ethanol, cellular response to glucose stimulus, cellular response to calcium ion, regulation of microtubule cytoskeleton organization, cellular response to hydrogen peroxide, neuron cellular homeostasis, regulation of stress granule assembly, CAMKK-AMPK signaling cascade, CAMKK-AMPK signaling cascade, CAMKK-AMPK signaling cascade, motor behavior, regulation of vesicle-mediated transport, fatty acid homeostasis, negative regulation of lipid catabolic process, positive regulation of skeletal muscle tissue development, rhythmic process, negative regulation of insulin receptor signaling pathway, negative regulation of glucosylceramide biosynthetic process, positive regulation of glycolytic process, positive regulation of cholesterol biosynthetic process, negative regulation of apoptotic process, regulation of circadian rhythm, glucose homeostasis, cellular response to glucose starvation, bile acid signaling pathway, cellular response to drug, intracellular signal transduction, histone-serine phosphorylation, cellular response to oxidative stress, regulation of peptidyl-serine phosphorylation, negative regulation of TOR signaling, cellular response to nutrient levels, response to caffeine, fatty acid oxidation, regulation of macroautophagy, macroautophagy, Wnt signaling pathway, bile acid and bile salt transport, response to activity, negative regulation of gene expression, positive regulation of gene expression, positive regulation of autophagy, positive regulation of autophagy, positive regulation of autophagy, response to gamma radiation, cold acclimation, response to UV, lipid biosynthetic process, positive regulation of cell population proliferation, signal transduction, cell cycle arrest, cholesterol biosynthetic process, fatty acid biosynthetic process, protein phosphorylation, protein phosphorylation, glucose metabolic process, response to hypoxia, activation of MAPK activity, 779 736 897 431 542 482 438 442 410 ENSG00000132357 chr5 40841184 40860175 + CARD6 protein_coding This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]. 84674 GO:0005515, protein binding, GO:0042981, GO:0006915, regulation of apoptotic process, apoptotic process, 166 188 162 50 83 44 94 112 71 ENSG00000132359 chr17 2755705 3037739 + RAP1GAP2 protein_coding This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 23108 GO:0048471, GO:0043005, GO:0031965, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005737, perinuclear region of cytoplasm, neuron projection, nuclear membrane, plasma membrane, plasma membrane, cytosol, cytosol, centrosome, cytoplasm, GO:0005515, GO:0005096, GO:0005096, protein binding, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0051056, GO:0043547, GO:0010977, GO:0008361, GO:0008361, activation of GTPase activity, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, negative regulation of neuron projection development, regulation of cell size, regulation of cell size, 2505 2751 3256 2347 3084 3086 2693 2152 2584 ENSG00000132361 chr17 2689386 2712663 - CLUH protein_coding 23277 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0003729, GO:0003729, mRNA binding, mRNA binding, GO:0048312, GO:0048312, GO:0007005, intracellular distribution of mitochondria, intracellular distribution of mitochondria, mitochondrion organization, 28 19 51 81 34 74 51 27 49 ENSG00000132376 chr17 1494571 1516888 - INPP5K protein_coding This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]. 51763 GO:0048471, GO:0043005, GO:0032587, GO:0016020, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005802, GO:0005783, GO:0005783, GO:0005737, GO:0005737, GO:0005634, GO:0001726, GO:0001726, perinuclear region of cytoplasm, neuron projection, ruffle membrane, membrane, membrane, plasma membrane, plasma membrane, cytosol, cytosol, trans-Golgi network, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, ruffle, ruffle, GO:0052659, GO:0052658, GO:0046030, GO:0042577, GO:0034595, GO:0034594, GO:0034485, GO:0034485, GO:0016312, GO:0016312, GO:0005515, GO:0005000, GO:0004445, GO:0004439, GO:0004439, inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity, inositol-1,4,5-trisphosphate 5-phosphatase activity, inositol trisphosphate phosphatase activity, lipid phosphatase activity, phosphatidylinositol phosphate 5-phosphatase activity, phosphatidylinositol trisphosphate phosphatase activity, phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity, phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity, inositol bisphosphate phosphatase activity, inositol bisphosphate phosphatase activity, protein binding, vasopressin receptor activity, inositol-polyphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, GO:2001153, GO:2000466, GO:0097178, GO:0090315, GO:0072659, GO:0071364, GO:0071356, GO:0071320, GO:0051926, GO:0051898, GO:0051898, GO:0051497, GO:0046856, GO:0046856, GO:0046855, GO:0046855, GO:0046627, GO:0046627, GO:0045893, GO:0045892, GO:0045869, GO:0045719, GO:0045719, GO:0043922, GO:0043407, GO:0042593, GO:0035810, GO:0035305, GO:0033137, GO:0033137, GO:0032870, GO:0032869, GO:0030036, GO:0016311, GO:0016311, GO:0010829, GO:0010801, GO:0007186, GO:0006661, GO:0006469, GO:0005979, GO:0001933, GO:0001701, positive regulation of renal water transport, negative regulation of glycogen (starch) synthase activity, ruffle assembly, negative regulation of protein targeting to membrane, protein localization to plasma membrane, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, cellular response to cAMP, negative regulation of calcium ion transport, negative regulation of protein kinase B signaling, negative regulation of protein kinase B signaling, negative regulation of stress fiber assembly, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, inositol phosphate dephosphorylation, negative regulation of insulin receptor signaling pathway, negative regulation of insulin receptor signaling pathway, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of glycogen biosynthetic process, negative regulation of glycogen biosynthetic process, negative regulation by host of viral transcription, negative regulation of MAP kinase activity, glucose homeostasis, positive regulation of urine volume, negative regulation of dephosphorylation, negative regulation of peptidyl-serine phosphorylation, negative regulation of peptidyl-serine phosphorylation, cellular response to hormone stimulus, cellular response to insulin stimulus, actin cytoskeleton organization, dephosphorylation, dephosphorylation, negative regulation of glucose transmembrane transport, negative regulation of peptidyl-threonine phosphorylation, G protein-coupled receptor signaling pathway, phosphatidylinositol biosynthetic process, negative regulation of protein kinase activity, regulation of glycogen biosynthetic process, negative regulation of protein phosphorylation, in utero embryonic development, 1718 1680 1754 2060 2028 2012 2543 1661 1744 ENSG00000132382 chr17 4538897 4555631 - MYBBP1A protein_coding This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 10514 GO:0043231, GO:0042564, GO:0016020, GO:0005737, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, NLS-dependent protein nuclear import complex, membrane, cytoplasm, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleus, nucleus, GO:0070888, GO:0043565, GO:0008134, GO:0003723, GO:0003714, GO:0003714, E-box binding, sequence-specific DNA binding, transcription factor binding, RNA binding, transcription corepressor activity, transcription corepressor activity, GO:2000210, GO:0072332, GO:0071158, GO:0045892, GO:0045815, GO:0042254, GO:0042149, GO:0032922, GO:0022904, GO:0006355, GO:0001649, positive regulation of anoikis, intrinsic apoptotic signaling pathway by p53 class mediator, positive regulation of cell cycle arrest, negative regulation of transcription, DNA-templated, positive regulation of gene expression, epigenetic, ribosome biogenesis, cellular response to glucose starvation, circadian regulation of gene expression, respiratory electron transport chain, regulation of transcription, DNA-templated, osteoblast differentiation, 23 23 67 88 25 93 82 25 59 ENSG00000132383 chr17 1829702 1900082 + RPA1 protein_coding This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]. 6117 GO:0090734, GO:0016605, GO:0016605, GO:0005662, GO:0005662, GO:0005662, GO:0005654, GO:0005654, GO:0005634, GO:0000781, site of DNA damage, PML body, PML body, DNA replication factor A complex, DNA replication factor A complex, DNA replication factor A complex, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0098505, GO:0098505, GO:0046872, GO:0043047, GO:0005515, GO:0003697, GO:0003684, GO:0003684, G-rich strand telomeric DNA binding, G-rich strand telomeric DNA binding, metal ion binding, single-stranded telomeric DNA binding, protein binding, single-stranded DNA binding, damaged DNA binding, damaged DNA binding, GO:1901796, GO:1900034, GO:0070987, GO:0051321, GO:0042769, GO:0042276, GO:0036297, GO:0034502, GO:0033683, GO:0032201, GO:0019985, GO:0007004, GO:0006974, GO:0006310, GO:0006298, GO:0006297, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006289, GO:0006284, GO:0006283, GO:0006281, GO:0006268, GO:0006260, GO:0006260, GO:0000724, GO:0000724, GO:0000723, GO:0000723, GO:0000082, regulation of signal transduction by p53 class mediator, regulation of cellular response to heat, error-free translesion synthesis, meiotic cell cycle, DNA damage response, detection of DNA damage, error-prone translesion synthesis, interstrand cross-link repair, protein localization to chromosome, nucleotide-excision repair, DNA incision, telomere maintenance via semi-conservative replication, translesion synthesis, telomere maintenance via telomerase, cellular response to DNA damage stimulus, DNA recombination, mismatch repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, nucleotide-excision repair, base-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, DNA unwinding involved in DNA replication, DNA replication, DNA replication, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance, telomere maintenance, G1/S transition of mitotic cell cycle, 145 137 174 185 150 136 149 103 150 ENSG00000132386 chr17 1761959 1777574 + SERPINF1 protein_coding This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]. 5176 GO:0070062, GO:0062023, GO:0062023, GO:0048471, GO:0043203, GO:0042470, GO:0005615, GO:0005615, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, perinuclear region of cytoplasm, axon hillock, melanosome, extracellular space, extracellular space, basement membrane, extracellular region, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:1901215, GO:0071549, GO:0071333, GO:0071300, GO:0071279, GO:0060770, GO:0060041, GO:0050769, GO:0050728, GO:0046685, GO:0042698, GO:0016525, GO:0010976, GO:0010951, GO:0010629, GO:0010596, GO:0010447, GO:0007614, GO:0007568, GO:0001822, negative regulation of neuron death, cellular response to dexamethasone stimulus, cellular response to glucose stimulus, cellular response to retinoic acid, cellular response to cobalt ion, negative regulation of epithelial cell proliferation involved in prostate gland development, retina development in camera-type eye, positive regulation of neurogenesis, negative regulation of inflammatory response, response to arsenic-containing substance, ovulation cycle, negative regulation of angiogenesis, positive regulation of neuron projection development, negative regulation of endopeptidase activity, negative regulation of gene expression, negative regulation of endothelial cell migration, response to acidic pH, short-term memory, aging, kidney development, 5 2 10 10 10 21 13 5 16 ENSG00000132388 chr17 4269259 4366628 - UBE2G1 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008]. 7326 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0061631, GO:0061631, GO:0031625, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0070936, GO:0070534, GO:0044257, GO:0043161, GO:0016567, GO:0006511, GO:0000209, protein K48-linked ubiquitination, protein K63-linked ubiquitination, cellular protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 493 508 681 288 456 391 261 359 310 ENSG00000132394 chr3 128153454 128408646 + EEFSEC protein_coding 60678 GO:1990904, GO:0005737, GO:0005634, ribonucleoprotein complex, cytoplasm, nucleus, GO:0043021, GO:0035368, GO:0005525, GO:0003924, GO:0003746, GO:0000049, ribonucleoprotein complex binding, selenocysteine insertion sequence binding, GTP binding, GTPase activity, translation elongation factor activity, tRNA binding, GO:0006414, GO:0001514, translational elongation, selenocysteine incorporation, 12 19 31 39 19 56 27 13 15 ENSG00000132405 chr4 6909242 7033118 + TBC1D14 protein_coding 57533 GO:0055037, GO:0055037, GO:0055037, GO:0043231, GO:0005829, GO:0005794, GO:0005776, GO:0005776, GO:0005654, recycling endosome, recycling endosome, recycling endosome, intracellular membrane-bounded organelle, cytosol, Golgi apparatus, autophagosome, autophagosome, nucleoplasm, GO:0031267, GO:0019901, GO:0005515, GO:0005096, small GTPase binding, protein kinase binding, protein binding, GTPase activator activity, GO:2000785, GO:2000785, GO:1902017, GO:0090630, GO:0071955, GO:0010507, GO:0006914, GO:0006886, regulation of autophagosome assembly, regulation of autophagosome assembly, regulation of cilium assembly, activation of GTPase activity, recycling endosome to Golgi transport, negative regulation of autophagy, autophagy, intracellular protein transport, 2857 2769 3134 2400 3521 3267 2452 2378 2669 ENSG00000132406 chr4 4235542 4248212 - TMEM128 protein_coding 85013 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 23 32 43 23 38 50 23 36 23 ENSG00000132423 chr6 99369400 99394204 - COQ3 protein_coding Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]. 51805 GO:0031314, GO:0005759, GO:0005739, extrinsic component of mitochondrial inner membrane, mitochondrial matrix, mitochondrion, GO:0044596, GO:0044595, GO:0008689, GO:0008425, GO:0008171, GO:0005515, GO:0004395, 3-demethylubiquinol-10 3-O-methyltransferase activity, decaprenyldihydroxybenzoate methyltransferase activity, 3-demethylubiquinone-9 3-O-methyltransferase activity, 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity, O-methyltransferase activity, protein binding, hexaprenyldihydroxybenzoate methyltransferase activity, GO:0032259, GO:0010795, GO:0006744, GO:0006744, GO:0006744, GO:0006071, methylation, regulation of ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, glycerol metabolic process, 9 3 3 13 7 10 7 3 7 ENSG00000132424 chr6 99398051 99425331 - PNISR protein_coding 25957 GO:0048786, GO:0016607, GO:0016607, GO:0005886, GO:0005829, GO:0005654, presynaptic active zone, nuclear speck, nuclear speck, plasma membrane, cytosol, nucleoplasm, GO:0003723, RNA binding, 4098 4523 5712 3171 4223 4364 3564 3228 3452 ENSG00000132429 chr6 105158280 105179995 - POPDC3 protein_coding This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]. 64208 GO:0042383, GO:0016021, sarcolemma, integral component of membrane, GO:0030552, GO:0030552, GO:0003674, cAMP binding, cAMP binding, molecular_function, GO:0051146, GO:0042391, GO:0042391, GO:0008150, GO:0007519, GO:0007507, striated muscle cell differentiation, regulation of membrane potential, regulation of membrane potential, biological_process, skeletal muscle tissue development, heart development, 0 0 0 0 0 0 0 0 0 ENSG00000132432 chr7 54752250 54759974 - SEC61G protein_coding The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 23480 GO:0071261, GO:0016021, GO:0016020, GO:0005829, GO:0005789, Ssh1 translocon complex, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, GO:0015450, GO:0008320, GO:0008320, GO:0005515, P-P-bond-hydrolysis-driven protein transmembrane transporter activity, protein transmembrane transporter activity, protein transmembrane transporter activity, protein binding, GO:0045047, GO:0031204, protein targeting to ER, posttranslational protein targeting to membrane, translocation, 42 25 48 69 35 85 28 48 57 ENSG00000132434 chr7 55365448 55433742 + LANCL2 protein_coding 55915 GO:0030864, GO:0005886, GO:0005886, GO:0005829, GO:0005654, GO:0005634, GO:0005634, cortical actin cytoskeleton, plasma membrane, plasma membrane, cytosol, nucleoplasm, nucleus, nucleus, GO:0070273, GO:0032266, GO:0010314, GO:0005525, GO:0005524, GO:0005515, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, GTP binding, ATP binding, protein binding, GO:0045892, GO:0009789, GO:0005975, negative regulation of transcription, DNA-templated, positive regulation of abscisic acid-activated signaling pathway, carbohydrate metabolic process, 26 12 22 20 22 41 25 17 29 ENSG00000132436 chr7 50444128 50542535 - FIGNL1 protein_coding This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to the centrosome and inhibit ciliogenesis, and may regulate the proliferation and differentiation of osteoblasts. [provided by RefSeq, Oct 2016]. 63979 GO:0070062, GO:0048471, GO:0005737, GO:0005634, GO:0005634, GO:0000228, extracellular exosome, perinuclear region of cytoplasm, cytoplasm, nucleus, nucleus, nuclear chromosome, GO:0016887, GO:0016787, GO:0008568, GO:0005524, GO:0005515, GO:0000287, ATPase activity, hydrolase activity, microtubule-severing ATPase activity, ATP binding, protein binding, magnesium ion binding, GO:2001243, GO:0071479, GO:0051726, GO:0051013, GO:0046034, GO:0043066, GO:0033687, GO:0031122, GO:0010569, GO:0007140, GO:0001649, negative regulation of intrinsic apoptotic signaling pathway, cellular response to ionizing radiation, regulation of cell cycle, microtubule severing, ATP metabolic process, negative regulation of apoptotic process, osteoblast proliferation, cytoplasmic microtubule organization, regulation of double-strand break repair via homologous recombination, male meiotic nuclear division, osteoblast differentiation, 13 6 16 48 18 40 32 14 23 ENSG00000132437 chr7 50458436 50565457 - DDC protein_coding The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]. 1644 GO:0070062, GO:0043025, GO:0030424, GO:0008021, GO:0005829, GO:0005737, extracellular exosome, neuronal cell body, axon, synaptic vesicle, cytosol, cytoplasm, GO:0036468, GO:0030170, GO:0019904, GO:0019899, GO:0016831, GO:0016597, GO:0005515, GO:0004058, GO:0004058, L-dopa decarboxylase activity, pyridoxal phosphate binding, protein domain specific binding, enzyme binding, carboxy-lyase activity, amino acid binding, protein binding, aromatic-L-amino-acid decarboxylase activity, aromatic-L-amino-acid decarboxylase activity, GO:0071363, GO:0071312, GO:0052314, GO:0046684, GO:0046219, GO:0042427, GO:0042423, GO:0042416, GO:0035690, GO:0033076, GO:0015842, GO:0010259, GO:0007623, GO:0006584, GO:0006520, cellular response to growth factor stimulus, cellular response to alkaloid, phytoalexin metabolic process, response to pyrethroid, indolalkylamine biosynthetic process, serotonin biosynthetic process, catecholamine biosynthetic process, dopamine biosynthetic process, cellular response to drug, isoquinoline alkaloid metabolic process, aminergic neurotransmitter loading into synaptic vesicle, multicellular organism aging, circadian rhythm, catecholamine metabolic process, cellular amino acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000132446 chrX 31071241 31072053 - FTHL17 protein_coding This gene encodes a ferritin heavy chain-like protein. This gene is primarily expressed in embryonic germ cells. The encoded protein may lack ferroxidase activity. Multiple pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Oct 2016]. 53940 GO:0005737, cytoplasm, GO:0008199, GO:0008198, GO:0005515, GO:0004322, ferric iron binding, ferrous iron binding, protein binding, ferroxidase activity, GO:0055114, GO:0006880, GO:0006826, oxidation-reduction process, intracellular sequestering of iron ion, iron ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000132463 chr4 70815782 70839945 - GRSF1 protein_coding The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2926 GO:1990904, GO:0042645, GO:0035770, GO:0005739, GO:0005737, GO:0005654, ribonucleoprotein complex, mitochondrial nucleoid, ribonucleoprotein granule, mitochondrion, cytoplasm, nucleoplasm, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003723, protein binding, mRNA binding, RNA binding, RNA binding, RNA binding, GO:0043484, GO:0016331, GO:0009952, GO:0008033, GO:0006378, GO:0000962, regulation of RNA splicing, morphogenesis of embryonic epithelium, anterior/posterior pattern specification, tRNA processing, mRNA polyadenylation, positive regulation of mitochondrial RNA catabolic process, 43 43 116 129 78 170 141 66 97 ENSG00000132464 chr4 70628744 70686816 + ENAM protein_coding Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]. 10117 GO:0031012, GO:0005788, extracellular matrix, endoplasmic reticulum lumen, GO:0030345, GO:0005515, structural constituent of tooth enamel, protein binding, GO:0097186, GO:0070175, GO:0044267, GO:0043687, GO:0036305, GO:0031214, GO:0022604, amelogenesis, positive regulation of enamel mineralization, cellular protein metabolic process, post-translational protein modification, ameloblast differentiation, biomineral tissue development, regulation of cell morphogenesis, 18 16 18 73 65 41 68 78 9 ENSG00000132465 chr4 70655541 70681817 - JCHAIN protein_coding 3512 GO:0072562, GO:0071757, GO:0071756, GO:0071756, GO:0071752, GO:0071751, GO:0071750, GO:0071748, GO:0070062, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, hexameric IgM immunoglobulin complex, pentameric IgM immunoglobulin complex, pentameric IgM immunoglobulin complex, secretory dimeric IgA immunoglobulin complex, secretory IgA immunoglobulin complex, dimeric IgA immunoglobulin complex, monomeric IgA immunoglobulin complex, extracellular exosome, extracellular space, extracellular space, extracellular region, extracellular region, GO:0042834, GO:0042803, GO:0034987, GO:0034987, GO:0034987, GO:0031210, GO:0030674, GO:0019862, GO:0003823, GO:0003697, peptidoglycan binding, protein homodimerization activity, immunoglobulin receptor binding, immunoglobulin receptor binding, immunoglobulin receptor binding, phosphatidylcholine binding, protein-macromolecule adaptor activity, IgA binding, antigen binding, single-stranded DNA binding, GO:0065003, GO:0060267, GO:0050900, GO:0045087, GO:0019731, GO:0006959, GO:0006955, GO:0006898, GO:0003094, GO:0002250, GO:0001895, protein-containing complex assembly, positive regulation of respiratory burst, leukocyte migration, innate immune response, antibacterial humoral response, humoral immune response, immune response, receptor-mediated endocytosis, glomerular filtration, adaptive immune response, retina homeostasis, 55 67 45 212 153 97 169 196 66 ENSG00000132466 chr4 73073376 73258798 - ANKRD17 protein_coding The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 26057 GO:0031965, GO:0016020, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear membrane, membrane, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0005515, GO:0003723, GO:0003682, protein binding, RNA binding, chromatin binding, GO:1900246, GO:1900245, GO:1900087, GO:0051151, GO:0045787, GO:0045087, GO:0045087, GO:0043123, GO:0042742, GO:0016032, GO:0006275, GO:0001955, positive regulation of RIG-I signaling pathway, positive regulation of MDA-5 signaling pathway, positive regulation of G1/S transition of mitotic cell cycle, negative regulation of smooth muscle cell differentiation, positive regulation of cell cycle, innate immune response, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, defense response to bacterium, viral process, regulation of DNA replication, blood vessel maturation, 769 700 910 575 562 694 611 438 519 ENSG00000132467 chr4 70688479 70690551 + UTP3 protein_coding 57050 GO:0032040, GO:0005730, GO:0005730, GO:0005654, GO:0005634, small-subunit processome, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0007420, GO:0006364, GO:0006325, GO:0000462, brain development, rRNA processing, chromatin organization, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 24 26 40 37 25 68 45 17 21 ENSG00000132470 chr17 75721328 75757818 + ITGB4 protein_coding Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3691 GO:0070062, GO:0043235, GO:0031965, GO:0031252, GO:0030056, GO:0030054, GO:0009986, GO:0009986, GO:0008305, GO:0008305, GO:0005925, GO:0005886, GO:0005886, GO:0005730, extracellular exosome, receptor complex, nuclear membrane, cell leading edge, hemidesmosome, cell junction, cell surface, cell surface, integrin complex, integrin complex, focal adhesion, plasma membrane, plasma membrane, nucleolus, GO:0038132, GO:0031994, GO:0005515, GO:0005178, GO:0001664, neuregulin binding, insulin-like growth factor I binding, protein binding, integrin binding, G protein-coupled receptor binding, GO:0048870, GO:0048333, GO:0043589, GO:0035878, GO:0033627, GO:0031581, GO:0031581, GO:0031581, GO:0030198, GO:0016477, GO:0009611, GO:0007229, GO:0007160, GO:0007160, GO:0007155, GO:0006914, cell motility, mesodermal cell differentiation, skin morphogenesis, nail development, cell adhesion mediated by integrin, hemidesmosome assembly, hemidesmosome assembly, hemidesmosome assembly, extracellular matrix organization, cell migration, response to wounding, integrin-mediated signaling pathway, cell-matrix adhesion, cell-matrix adhesion, cell adhesion, autophagy, 35 40 70 40 55 150 51 27 85 ENSG00000132471 chr17 75845699 75856507 - WBP2 protein_coding The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]. 23558 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:0031490, GO:0031490, GO:0030331, GO:0005515, GO:0003713, GO:0003713, GO:0003713, GO:0000978, chromatin DNA binding, chromatin DNA binding, estrogen receptor binding, protein binding, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071442, GO:0071391, GO:0050847, GO:0045944, GO:0045893, GO:0045815, GO:0045184, GO:0043627, GO:0033148, GO:0032570, positive regulation of histone H3-K14 acetylation, cellular response to estrogen stimulus, progesterone receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of gene expression, epigenetic, establishment of protein localization, response to estrogen, positive regulation of intracellular estrogen receptor signaling pathway, response to progesterone, 4820 5535 5738 4763 5834 4899 5495 4569 3892 ENSG00000132475 chr17 75776434 75785893 - H3F3B protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. Pseudogenes of this gene have been identified on the X chromosome, and on chromosomes 5, 13 and 17. [provided by RefSeq, Oct 2015]. 3021 GO:0070062, GO:0032991, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, GO:0001740, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, Barr body, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0031492, GO:0005515, GO:0000979, GO:0000978, protein heterodimerization activity, nucleosomal DNA binding, protein binding, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902340, GO:0090230, GO:0060964, GO:0048477, GO:0045814, GO:0045652, GO:0044267, GO:0042692, GO:0035264, GO:0032200, GO:0031509, GO:0031508, GO:0030307, GO:0009725, GO:0008584, GO:0008283, GO:0007596, GO:0007566, GO:0007420, GO:0007338, GO:0007286, GO:0006997, GO:0006336, GO:0006334, GO:0006334, GO:0001649, GO:0000183, negative regulation of chromosome condensation, regulation of centromere complex assembly, regulation of gene silencing by miRNA, oogenesis, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, muscle cell differentiation, multicellular organism growth, telomere organization, subtelomeric heterochromatin assembly, pericentric heterochromatin assembly, positive regulation of cell growth, response to hormone, male gonad development, cell population proliferation, blood coagulation, embryo implantation, brain development, single fertilization, spermatid development, nucleus organization, DNA replication-independent nucleosome assembly, nucleosome assembly, nucleosome assembly, osteoblast differentiation, rDNA heterochromatin assembly, 26340 31411 32959 69371 107454 72421 56250 79058 54020 ENSG00000132478 chr17 75784771 75825799 + UNK protein_coding 85451 GO:0005844, GO:0005737, polysome, cytoplasm, GO:1990715, GO:1990715, GO:1905538, GO:0046872, GO:0003723, mRNA CDS binding, mRNA CDS binding, polysome binding, metal ion binding, RNA binding, GO:2000766, GO:0048667, GO:0048667, GO:0001764, negative regulation of cytoplasmic translation, cell morphogenesis involved in neuron differentiation, cell morphogenesis involved in neuron differentiation, neuron migration, 240 265 278 424 470 537 503 375 423 ENSG00000132481 chr17 75874161 75878575 - TRIM47 protein_coding 91107 GO:0005829, GO:0005634, cytosol, nucleus, GO:0008270, GO:0004842, zinc ion binding, ubiquitin-protein transferase activity, GO:0016567, GO:0016567, protein ubiquitination, protein ubiquitination, 3 4 1 5 0 18 3 3 5 ENSG00000132485 chr1 71063291 71081297 - ZRANB2 protein_coding 9406 GO:0005654, nucleoplasm, GO:0046872, GO:0005515, GO:0003723, GO:0001530, metal ion binding, protein binding, RNA binding, lipopolysaccharide binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 535 590 739 619 514 850 644 389 587 ENSG00000132507 chr17 7306999 7312463 + EIF5A protein_coding 1984 GO:0016020, GO:0005829, GO:0005789, GO:0005737, GO:0005643, GO:0005642, GO:0005634, membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, nuclear pore, annulate lamellae, nucleus, GO:0047485, GO:0043022, GO:0017070, GO:0005515, GO:0003746, GO:0003746, GO:0003723, GO:0003723, protein N-terminus binding, ribosome binding, U6 snRNA binding, protein binding, translation elongation factor activity, translation elongation factor activity, RNA binding, RNA binding, GO:0045905, GO:0045901, GO:0045901, GO:0008284, GO:0006915, GO:0006913, GO:0006913, GO:0006611, GO:0006414, GO:0006406, positive regulation of translational termination, positive regulation of translational elongation, positive regulation of translational elongation, positive regulation of cell population proliferation, apoptotic process, nucleocytoplasmic transport, nucleocytoplasmic transport, protein export from nucleus, translational elongation, mRNA export from nucleus, 771 754 1273 1000 926 1191 982 846 1046 ENSG00000132510 chr17 7839904 7854796 + KDM6B protein_coding The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]. 23135 GO:0044666, GO:0005654, GO:0005634, GO:0000785, MLL3/4 complex, nucleoplasm, nucleus, chromatin, GO:0071558, GO:0071558, GO:0051213, GO:0046872, GO:0031490, GO:0008013, GO:0005515, GO:0000978, histone demethylase activity (H3-K27 specific), histone demethylase activity (H3-K27 specific), dioxygenase activity, metal ion binding, chromatin DNA binding, beta-catenin binding, protein binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0120162, GO:0071557, GO:0070301, GO:0060992, GO:0055114, GO:0055007, GO:0048333, GO:0045944, GO:0045446, GO:0045165, GO:0021766, GO:0014823, GO:0006338, GO:0002437, positive regulation of cold-induced thermogenesis, histone H3-K27 demethylation, cellular response to hydrogen peroxide, response to fungicide, oxidation-reduction process, cardiac muscle cell differentiation, mesodermal cell differentiation, positive regulation of transcription by RNA polymerase II, endothelial cell differentiation, cell fate commitment, hippocampus development, response to activity, chromatin remodeling, inflammatory response to antigenic stimulus, 19214 21914 33045 24705 26419 32035 27921 17919 26319 ENSG00000132514 chr17 7074537 7080307 - CLEC10A protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 10462 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0030246, GO:0005515, carbohydrate binding, protein binding, GO:0045087, GO:0006897, GO:0002250, GO:0002223, innate immune response, endocytosis, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, 3 12 14 20 11 19 10 12 22 ENSG00000132517 chr17 5032600 5052009 - SLC52A1 protein_coding Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]. 55065 GO:0005887, GO:0005887, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0032217, GO:0032217, GO:0005515, GO:0001618, riboflavin transmembrane transporter activity, riboflavin transmembrane transporter activity, protein binding, virus receptor activity, GO:0046718, GO:0032218, GO:0032218, GO:0006771, viral entry into host cell, riboflavin transport, riboflavin transport, riboflavin metabolic process, 0 0 1 2 0 0 0 2 0 ENSG00000132518 chr17 8002594 8020339 + GUCY2D protein_coding This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]. 3000 GO:0097381, GO:0042622, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005640, GO:0001750, photoreceptor disc membrane, photoreceptor outer segment membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, nuclear outer membrane, photoreceptor outer segment, GO:0042803, GO:0038023, GO:0005525, GO:0005524, GO:0005515, GO:0004672, GO:0004383, GO:0004383, GO:0001653, protein homodimerization activity, signaling receptor activity, GTP binding, ATP binding, protein binding, protein kinase activity, guanylate cyclase activity, guanylate cyclase activity, peptide receptor activity, GO:0035556, GO:0022400, GO:0007601, GO:0007168, GO:0007165, GO:0006468, GO:0006182, intracellular signal transduction, regulation of rhodopsin mediated signaling pathway, visual perception, receptor guanylyl cyclase signaling pathway, signal transduction, protein phosphorylation, cGMP biosynthetic process, 1 0 0 0 0 0 0 0 0 ENSG00000132522 chr17 7311324 7315564 - GPS2 protein_coding This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008]. 2874 GO:0017053, GO:0005829, GO:0005739, GO:0005654, GO:0005634, GO:0005634, transcription repressor complex, cytosol, mitochondrion, nucleoplasm, nucleus, nucleus, GO:0030332, GO:0005515, GO:0005095, GO:0003714, GO:0003713, cyclin binding, protein binding, GTPase inhibitor activity, transcription corepressor activity, transcription coactivator activity, GO:1900045, GO:0098780, GO:0050859, GO:0050728, GO:0046329, GO:0045944, GO:0045599, GO:0045598, GO:0035360, GO:0034260, GO:0034122, GO:0030183, GO:0019216, GO:0016032, GO:0010875, GO:0010804, GO:0007254, GO:0000188, GO:0000122, negative regulation of protein K63-linked ubiquitination, response to mitochondrial depolarisation, negative regulation of B cell receptor signaling pathway, negative regulation of inflammatory response, negative regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, negative regulation of fat cell differentiation, regulation of fat cell differentiation, positive regulation of peroxisome proliferator activated receptor signaling pathway, negative regulation of GTPase activity, negative regulation of toll-like receptor signaling pathway, B cell differentiation, regulation of lipid metabolic process, viral process, positive regulation of cholesterol efflux, negative regulation of tumor necrosis factor-mediated signaling pathway, JNK cascade, inactivation of MAPK activity, negative regulation of transcription by RNA polymerase II, 257 268 393 255 329 337 295 277 320 ENSG00000132530 chr17 6755447 6775647 + XAF1 protein_coding This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 54739 GO:0005829, GO:0005739, GO:0005654, cytosol, mitochondrion, nucleoplasm, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0060337, GO:0035456, GO:0006915, type I interferon signaling pathway, response to interferon-beta, apoptotic process, 432 255 749 420 423 684 514 273 481 ENSG00000132535 chr17 7187169 7219841 - DLG4 protein_coding This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1742 GO:0098978, GO:0098839, GO:0097060, GO:0060076, GO:0045211, GO:0045202, GO:0044309, GO:0044306, GO:0044300, GO:0044224, GO:0043197, GO:0043005, GO:0032839, GO:0032281, GO:0031594, GO:0031234, GO:0030863, GO:0030666, GO:0030054, GO:0030054, GO:0014069, GO:0008328, GO:0008328, GO:0008076, GO:0008021, GO:0005886, GO:0005886, GO:0005829, GO:0005783, GO:0005737, glutamatergic synapse, postsynaptic density membrane, synaptic membrane, excitatory synapse, postsynaptic membrane, synapse, neuron spine, neuron projection terminus, cerebellar mossy fiber, juxtaparanode region of axon, dendritic spine, neuron projection, dendrite cytoplasm, AMPA glutamate receptor complex, neuromuscular junction, extrinsic component of cytoplasmic side of plasma membrane, cortical cytoskeleton, endocytic vesicle membrane, cell junction, cell junction, postsynaptic density, ionotropic glutamate receptor complex, ionotropic glutamate receptor complex, voltage-gated potassium channel complex, synaptic vesicle, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, cytoplasm, GO:0097110, GO:0097109, GO:0044877, GO:0035255, GO:0033130, GO:0031812, GO:0031748, GO:0031697, GO:0030165, GO:0019903, GO:0019900, GO:0008022, GO:0005515, scaffold protein binding, neuroligin family protein binding, protein-containing complex binding, ionotropic glutamate receptor binding, acetylcholine receptor binding, P2Y1 nucleotide receptor binding, D1 dopamine receptor binding, beta-1 adrenergic receptor binding, PDZ domain binding, protein phosphatase binding, kinase binding, protein C-terminus binding, protein binding, GO:2000821, GO:2000463, GO:2000310, GO:2000310, GO:0150012, GO:0098970, GO:0098609, GO:0097120, GO:0097120, GO:0097113, GO:0097113, GO:0097113, GO:0071625, GO:0065003, GO:0061098, GO:0061098, GO:0060997, GO:0050885, GO:0050806, GO:0048169, GO:0045184, GO:0043113, GO:0035865, GO:0035641, GO:0035418, GO:0035176, GO:0016188, GO:0007612, GO:0007399, GO:0007268, GO:0007204, GO:0007165, GO:0002091, GO:0000165, regulation of grooming behavior, positive regulation of excitatory postsynaptic potential, regulation of NMDA receptor activity, regulation of NMDA receptor activity, positive regulation of neuron projection arborization, postsynaptic neurotransmitter receptor diffusion trapping, cell-cell adhesion, receptor localization to synapse, receptor localization to synapse, AMPA glutamate receptor clustering, AMPA glutamate receptor clustering, AMPA glutamate receptor clustering, vocalization behavior, protein-containing complex assembly, positive regulation of protein tyrosine kinase activity, positive regulation of protein tyrosine kinase activity, dendritic spine morphogenesis, neuromuscular process controlling balance, positive regulation of synaptic transmission, regulation of long-term neuronal synaptic plasticity, establishment of protein localization, receptor clustering, cellular response to potassium ion, locomotory exploration behavior, protein localization to synapse, social behavior, synaptic vesicle maturation, learning, nervous system development, chemical synaptic transmission, positive regulation of cytosolic calcium ion concentration, signal transduction, negative regulation of receptor internalization, MAPK cascade, 7 10 11 50 33 31 34 16 26 ENSG00000132541 chr8 98102344 98117241 - RIDA protein_coding 10247 GO:0070062, GO:0005829, GO:0005829, GO:0005777, GO:0005759, GO:0005739, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytosol, peroxisome, mitochondrial matrix, mitochondrion, cytoplasm, nucleus, GO:0120241, GO:0046914, GO:0042802, GO:0036041, GO:0019239, GO:0019239, GO:0019239, GO:0016892, GO:0005515, GO:0003729, GO:0003723, 2-iminobutanoate/2-iminopropanoate deaminase, transition metal ion binding, identical protein binding, long-chain fatty acid binding, deaminase activity, deaminase activity, deaminase activity, endoribonuclease activity, producing 3'-phosphomonoesters, protein binding, mRNA binding, RNA binding, GO:1902074, GO:1901565, GO:1901565, GO:0090502, GO:0070314, GO:0061157, GO:0050680, GO:0033993, GO:0030324, GO:0019518, GO:0017148, GO:0007420, GO:0006402, GO:0001822, response to salt, organonitrogen compound catabolic process, organonitrogen compound catabolic process, RNA phosphodiester bond hydrolysis, endonucleolytic, G1 to G0 transition, mRNA destabilization, negative regulation of epithelial cell proliferation, response to lipid, lung development, L-threonine catabolic process to glycine, negative regulation of translation, brain development, mRNA catabolic process, kidney development, 5 7 4 11 17 8 4 11 6 ENSG00000132549 chr8 99013266 99877580 + VPS13B protein_coding This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 157680 GO:0015031, protein transport, 2107 1963 2319 1104 1742 1807 1660 1318 1719 ENSG00000132554 chr8 99960936 100131268 - RGS22 protein_coding 26166 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0001965, G-protein alpha-subunit binding, GO:0009968, negative regulation of signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000132561 chr8 97868840 98036716 + MATN2 protein_coding This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 4147 GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005604, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, basement membrane, GO:0005515, GO:0005509, GO:0005201, GO:0005201, protein binding, calcium ion binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0048678, GO:0031104, GO:0008347, GO:0008150, GO:0007411, GO:0001764, response to axon injury, dendrite regeneration, glial cell migration, biological_process, axon guidance, neuron migration, 0 2 0 3 0 0 9 2 0 ENSG00000132563 chr5 138439017 138446969 + REEP2 protein_coding This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 51308 GO:0071782, GO:0016020, GO:0005887, GO:0005881, GO:0005881, GO:0005789, GO:0005783, endoplasmic reticulum tubular network, membrane, integral component of plasma membrane, cytoplasmic microtubule, cytoplasmic microtubule, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0031883, GO:0008017, GO:0005515, taste receptor binding, microtubule binding, protein binding, GO:0071786, GO:0071786, GO:0050916, GO:0050913, GO:0032596, GO:0032386, endoplasmic reticulum tubular network organization, endoplasmic reticulum tubular network organization, sensory perception of sweet taste, sensory perception of bitter taste, protein transport into membrane raft, regulation of intracellular transport, 2 1 3 2 7 7 8 1 2 ENSG00000132570 chr5 134904906 135007959 + PCBD2 protein_coding 84105 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0042802, GO:0008124, GO:0005515, GO:0004505, identical protein binding, 4-alpha-hydroxytetrahydrobiopterin dehydratase activity, protein binding, phenylalanine 4-monooxygenase activity, GO:0055114, GO:0045893, GO:0006729, oxidation-reduction process, positive regulation of transcription, DNA-templated, tetrahydrobiopterin biosynthetic process, 19 7 21 19 22 25 30 17 19 ENSG00000132581 chr17 28648356 28662189 - SDF2 protein_coding The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]. 6388 GO:0016020, GO:0005615, membrane, extracellular space, GO:0004169, dolichyl-phosphate-mannose-protein mannosyltransferase activity, GO:0035269, GO:0006486, protein O-linked mannosylation, protein glycosylation, 1166 1034 1269 1003 1342 1255 1075 851 930 ENSG00000132589 chr17 28879335 28897679 - FLOT2 protein_coding Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008]. 2319 GO:0098978, GO:0070062, GO:0048471, GO:0044291, GO:0043231, GO:0032839, GO:0031982, GO:0031410, GO:0031410, GO:0030864, GO:0030139, GO:0030027, GO:0016600, GO:0016600, GO:0016324, GO:0016323, GO:0016020, GO:0005925, GO:0005912, GO:0005901, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005768, GO:0002080, GO:0001931, glutamatergic synapse, extracellular exosome, perinuclear region of cytoplasm, cell-cell contact zone, intracellular membrane-bounded organelle, dendrite cytoplasm, vesicle, cytoplasmic vesicle, cytoplasmic vesicle, cortical actin cytoskeleton, endocytic vesicle, lamellipodium, flotillin complex, flotillin complex, apical plasma membrane, basolateral plasma membrane, membrane, focal adhesion, adherens junction, caveola, plasma membrane, plasma membrane, plasma membrane, plasma membrane, endosome, acrosomal membrane, uropod, GO:0005515, protein binding, GO:1903905, GO:1902992, GO:0099072, GO:0098937, GO:0072659, GO:0072659, GO:0051092, GO:0050821, GO:0045661, GO:0045661, GO:0044860, GO:0034139, GO:0034114, GO:0010629, GO:0008544, GO:0007155, GO:0001765, positive regulation of establishment of T cell polarity, negative regulation of amyloid precursor protein catabolic process, regulation of postsynaptic membrane neurotransmitter receptor levels, anterograde dendritic transport, protein localization to plasma membrane, protein localization to plasma membrane, positive regulation of NF-kappaB transcription factor activity, protein stabilization, regulation of myoblast differentiation, regulation of myoblast differentiation, protein localization to plasma membrane raft, regulation of toll-like receptor 3 signaling pathway, regulation of heterotypic cell-cell adhesion, negative regulation of gene expression, epidermis development, cell adhesion, membrane raft assembly, 5435 5486 6972 2660 4319 3774 3201 3704 3480 ENSG00000132591 chr17 28854938 28861067 + ERAL1 protein_coding The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 26284 GO:0005829, GO:0005759, GO:0005759, GO:0005759, GO:0005743, GO:0005739, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, GO:0043024, GO:0043024, GO:0019843, GO:0019843, GO:0005525, GO:0005515, GO:0003723, ribosomal small subunit binding, ribosomal small subunit binding, rRNA binding, rRNA binding, GTP binding, protein binding, RNA binding, GO:0070126, GO:0070125, GO:0000028, GO:0000028, mitochondrial translational termination, mitochondrial translational elongation, ribosomal small subunit assembly, ribosomal small subunit assembly, 6 6 22 13 18 47 20 9 22 ENSG00000132600 chr16 68310974 68358563 + PRMT7 protein_coding This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]. 54496 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0001650, cytosol, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:0044020, GO:0043021, GO:0042393, GO:0035243, GO:0035243, GO:0035241, GO:0035241, GO:0016277, GO:0008757, GO:0008469, GO:0005515, histone methyltransferase activity (H4-R3 specific), ribonucleoprotein complex binding, histone binding, protein-arginine omega-N symmetric methyltransferase activity, protein-arginine omega-N symmetric methyltransferase activity, protein-arginine omega-N monomethyltransferase activity, protein-arginine omega-N monomethyltransferase activity, [myelin basic protein]-arginine N-methyltransferase activity, S-adenosylmethionine-dependent methyltransferase activity, histone-arginine N-methyltransferase activity, protein binding, GO:0043985, GO:0043393, GO:0043046, GO:0034969, GO:0030154, GO:0019918, GO:0018216, GO:0018216, GO:0016571, GO:0006349, GO:0000387, histone H4-R3 methylation, regulation of protein binding, DNA methylation involved in gamete generation, histone arginine methylation, cell differentiation, peptidyl-arginine methylation, to symmetrical-dimethyl arginine, peptidyl-arginine methylation, peptidyl-arginine methylation, histone methylation, regulation of gene expression by genetic imprinting, spliceosomal snRNP assembly, 45 38 51 63 27 103 74 22 50 ENSG00000132603 chr16 69337996 69343111 + NIP7 protein_coding 51388 GO:0030687, GO:0005829, GO:0005730, GO:0005730, GO:0005654, preribosome, large subunit precursor, cytosol, nucleolus, nucleolus, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0042273, GO:0042255, ribosomal large subunit biogenesis, ribosome assembly, 98 57 83 85 84 150 87 71 91 ENSG00000132604 chr16 69355561 69408571 - TERF2 protein_coding This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]. 7014 GO:0070187, GO:0070187, GO:0070187, GO:0070187, GO:0030870, GO:0016604, GO:0005654, GO:0005654, GO:0005634, GO:0000783, GO:0000781, GO:0000781, shelterin complex, shelterin complex, shelterin complex, shelterin complex, Mre11 complex, nuclear body, nucleoplasm, nucleoplasm, nucleus, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, GO:0098505, GO:0098505, GO:0044877, GO:0042803, GO:0042162, GO:0019899, GO:0008022, GO:0005515, GO:0003720, GO:0003720, GO:0003691, GO:0003691, GO:0003691, G-rich strand telomeric DNA binding, G-rich strand telomeric DNA binding, protein-containing complex binding, protein homodimerization activity, telomeric DNA binding, enzyme binding, protein C-terminus binding, protein binding, telomerase activity, telomerase activity, double-stranded telomeric DNA binding, double-stranded telomeric DNA binding, double-stranded telomeric DNA binding, GO:2000773, GO:1905839, GO:1905839, GO:1905778, GO:1904430, GO:1904430, GO:1904357, GO:1904354, GO:1903824, GO:1903770, GO:0090398, GO:0070198, GO:0070198, GO:0061820, GO:0061820, GO:0051000, GO:0032214, GO:0032211, GO:0032211, GO:0032211, GO:0032210, GO:0032210, GO:0032210, GO:0032208, GO:0032208, GO:0032208, GO:0032205, GO:0032204, GO:0031848, GO:0031848, GO:0031848, GO:0031627, GO:0031627, GO:0016233, GO:0016233, GO:0016233, GO:0010629, GO:0010628, GO:0007049, GO:0006278, GO:0000723, negative regulation of cellular senescence, negative regulation of telomeric D-loop disassembly, negative regulation of telomeric D-loop disassembly, negative regulation of exonuclease activity, negative regulation of t-circle formation, negative regulation of t-circle formation, negative regulation of telomere maintenance via telomere lengthening, negative regulation of telomere capping, negative regulation of telomere single strand break repair, negative regulation of beta-galactosidase activity, cellular senescence, protein localization to chromosome, telomeric region, protein localization to chromosome, telomeric region, telomeric D-loop disassembly, telomeric D-loop disassembly, positive regulation of nitric-oxide synthase activity, negative regulation of telomere maintenance via semi-conservative replication, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, regulation of telomere maintenance via telomerase, regulation of telomere maintenance via telomerase, regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via recombination, negative regulation of telomere maintenance via recombination, negative regulation of telomere maintenance via recombination, negative regulation of telomere maintenance, regulation of telomere maintenance, protection from non-homologous end joining at telomere, protection from non-homologous end joining at telomere, protection from non-homologous end joining at telomere, telomeric loop formation, telomeric loop formation, telomere capping, telomere capping, telomere capping, negative regulation of gene expression, positive regulation of gene expression, cell cycle, RNA-dependent DNA biosynthetic process, telomere maintenance, 155 129 192 185 177 167 122 146 103 ENSG00000132612 chr16 69311356 69326939 + VPS4A protein_coding The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]. 27183 GO:0090543, GO:0070062, GO:0048471, GO:0031902, GO:0030496, GO:0030496, GO:0010008, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005774, GO:0005770, GO:0005769, GO:0005768, GO:0005764, GO:0005737, GO:0005634, GO:0005634, GO:0000922, Flemming body, extracellular exosome, perinuclear region of cytoplasm, late endosome membrane, midbody, midbody, endosome membrane, plasma membrane, cytosol, cytosol, centrosome, vacuolar membrane, late endosome, early endosome, endosome, lysosome, cytoplasm, nucleus, nucleus, spindle pole, GO:0044877, GO:0019904, GO:0016887, GO:0016887, GO:0016887, GO:0008022, GO:0005524, GO:0005515, protein-containing complex binding, protein domain specific binding, ATPase activity, ATPase activity, ATPase activity, protein C-terminus binding, ATP binding, protein binding, GO:1904903, GO:1904896, GO:1903902, GO:1903774, GO:1903543, GO:1903076, GO:1902188, GO:0090611, GO:0072319, GO:0061952, GO:0061738, GO:0061640, GO:0051301, GO:0044878, GO:0043162, GO:0039702, GO:0036258, GO:0036258, GO:0034058, GO:0032880, GO:0032466, GO:0032367, GO:0031468, GO:0019076, GO:0019058, GO:0016236, GO:0016197, GO:0016197, GO:0016197, GO:0016192, GO:0009838, GO:0007080, GO:0007033, GO:0006998, GO:0006997, GO:0006900, GO:0006622, GO:0000916, ESCRT III complex disassembly, ESCRT complex disassembly, positive regulation of viral life cycle, positive regulation of viral budding via host ESCRT complex, positive regulation of exosomal secretion, regulation of protein localization to plasma membrane, positive regulation of viral release from host cell, ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway, vesicle uncoating, midbody abscission, late endosomal microautophagy, cytoskeleton-dependent cytokinesis, cell division, mitotic cytokinesis checkpoint, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, viral budding via host ESCRT complex, multivesicular body assembly, multivesicular body assembly, endosomal vesicle fusion, regulation of protein localization, negative regulation of cytokinesis, intracellular cholesterol transport, nuclear envelope reassembly, viral release from host cell, viral life cycle, macroautophagy, endosomal transport, endosomal transport, endosomal transport, vesicle-mediated transport, abscission, mitotic metaphase plate congression, vacuole organization, nuclear envelope organization, nucleus organization, vesicle budding from membrane, protein targeting to lysosome, actomyosin contractile ring contraction, 160 149 163 195 269 177 197 158 160 ENSG00000132613 chr16 70661204 70686066 - MTSS1L protein_coding 92154 GO:0032587, GO:0030864, GO:0030027, ruffle membrane, cortical actin cytoskeleton, lamellipodium, GO:0031267, GO:0005546, GO:0005515, GO:0005096, GO:0003785, small GTPase binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GTPase activator activity, actin monomer binding, GO:0097581, GO:0097178, GO:0090630, GO:0036120, GO:0007009, lamellipodium organization, ruffle assembly, activation of GTPase activity, cellular response to platelet-derived growth factor stimulus, plasma membrane organization, 13 13 17 11 9 3 13 8 18 ENSG00000132622 chr20 3732667 3753111 + HSPA12B protein_coding The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 116835 GO:0005524, GO:0005515, ATP binding, protein binding, 0 0 0 1 3 0 0 0 0 ENSG00000132623 chr20 9986126 10058303 + ANKEF1 protein_coding 63926 GO:0005515, GO:0005509, protein binding, calcium ion binding, 1 10 4 14 4 15 22 4 12 ENSG00000132631 chr20 18813726 18814392 + SCP2D1 protein_coding 140856 GO:0032934, sterol binding, GO:0032385, GO:0015914, GO:0006694, positive regulation of intracellular cholesterol transport, phospholipid transport, steroid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000132635 chr20 2835314 2841190 - PCED1A protein_coding The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]. 64773 GO:0005515, protein binding, 47 66 62 96 75 100 64 59 67 ENSG00000132639 chr20 10218830 10307418 + SNAP25 protein_coding Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 6616 GO:0098978, GO:0098794, GO:0070821, GO:0070032, GO:0048471, GO:0043005, GO:0042734, GO:0036477, GO:0035579, GO:0031982, GO:0031234, GO:0031201, GO:0031201, GO:0031201, GO:0031201, GO:0031083, GO:0030426, GO:0016020, GO:0008076, GO:0008021, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005802, GO:0005737, GO:0005737, GO:0001917, glutamatergic synapse, postsynapse, tertiary granule membrane, synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex, perinuclear region of cytoplasm, neuron projection, presynaptic membrane, somatodendritic compartment, specific granule membrane, vesicle, extrinsic component of cytoplasmic side of plasma membrane, SNARE complex, SNARE complex, SNARE complex, SNARE complex, BLOC-1 complex, growth cone, membrane, voltage-gated potassium channel complex, synaptic vesicle, plasma membrane, plasma membrane, cytoskeleton, cytosol, trans-Golgi network, cytoplasm, cytoplasm, photoreceptor inner segment, GO:0048306, GO:0019905, GO:0017075, GO:0017075, GO:0005515, GO:0005484, GO:0005249, calcium-dependent protein binding, syntaxin binding, syntaxin-1 binding, syntaxin-1 binding, protein binding, SNAP receptor activity, voltage-gated potassium channel activity, GO:0099590, GO:0098967, GO:0071805, GO:0060291, GO:0050796, GO:0043312, GO:0031629, GO:0016082, GO:0016081, GO:0016079, GO:0014047, GO:0010975, GO:0008306, GO:0007626, GO:0007269, GO:0007268, GO:0006906, GO:0006887, GO:0001504, neurotransmitter receptor internalization, exocytic insertion of neurotransmitter receptor to postsynaptic membrane, potassium ion transmembrane transport, long-term synaptic potentiation, regulation of insulin secretion, neutrophil degranulation, synaptic vesicle fusion to presynaptic active zone membrane, synaptic vesicle priming, synaptic vesicle docking, synaptic vesicle exocytosis, glutamate secretion, regulation of neuron projection development, associative learning, locomotory behavior, neurotransmitter secretion, chemical synaptic transmission, vesicle fusion, exocytosis, neurotransmitter uptake, 0 0 0 0 0 0 0 0 0 ENSG00000132640 chr20 11890723 11926609 + BTBD3 protein_coding 22903 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0048813, GO:0048813, GO:0022008, GO:0021987, GO:0021987, dendrite morphogenesis, dendrite morphogenesis, neurogenesis, cerebral cortex development, cerebral cortex development, 6 5 8 13 7 2 4 2 4 ENSG00000132646 chr20 5114953 5126626 - PCNA protein_coding The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]. 5111 GO:0070557, GO:0070062, GO:0043626, GO:0043626, GO:0043596, GO:0030894, GO:0016604, GO:0005813, GO:0005657, GO:0005654, GO:0005654, GO:0005652, GO:0005634, GO:0005634, GO:0000785, GO:0000781, GO:0000307, PCNA-p21 complex, extracellular exosome, PCNA complex, PCNA complex, nuclear replication fork, replisome, nuclear body, centrosome, replication fork, nucleoplasm, nucleoplasm, nuclear lamina, nucleus, nucleus, chromatin, chromosome, telomeric region, cyclin-dependent protein kinase holoenzyme complex, GO:0070182, GO:0044877, GO:0042802, GO:0035035, GO:0032405, GO:0032139, GO:0030971, GO:0030337, GO:0030331, GO:0019899, GO:0008022, GO:0005515, GO:0003684, GO:0003682, GO:0000701, DNA polymerase binding, protein-containing complex binding, identical protein binding, histone acetyltransferase binding, MutLalpha complex binding, dinucleotide insertion or deletion binding, receptor tyrosine kinase binding, DNA polymerase processivity factor activity, estrogen receptor binding, enzyme binding, protein C-terminus binding, protein binding, damaged DNA binding, chromatin binding, purine-specific mismatch base pair DNA N-glycosylase activity, GO:1902990, GO:1902065, GO:1900264, GO:0097421, GO:0071548, GO:0071466, GO:0070987, GO:0070301, GO:0046686, GO:0045740, GO:0045739, GO:0044849, GO:0042769, GO:0042276, GO:0034644, GO:0033683, GO:0032355, GO:0032201, GO:0032077, GO:0031297, GO:0030855, GO:0019985, GO:0019985, GO:0019985, GO:0016567, GO:0016032, GO:0007507, GO:0006977, GO:0006298, GO:0006298, GO:0006298, GO:0006297, GO:0006296, GO:0006287, GO:0006283, GO:0006272, GO:0000723, GO:0000122, GO:0000083, mitotic telomere maintenance via semi-conservative replication, response to L-glutamate, positive regulation of DNA-directed DNA polymerase activity, liver regeneration, response to dexamethasone, cellular response to xenobiotic stimulus, error-free translesion synthesis, cellular response to hydrogen peroxide, response to cadmium ion, positive regulation of DNA replication, positive regulation of DNA repair, estrous cycle, DNA damage response, detection of DNA damage, error-prone translesion synthesis, cellular response to UV, nucleotide-excision repair, DNA incision, response to estradiol, telomere maintenance via semi-conservative replication, positive regulation of deoxyribonuclease activity, replication fork processing, epithelial cell differentiation, translesion synthesis, translesion synthesis, translesion synthesis, protein ubiquitination, viral process, heart development, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, mismatch repair, mismatch repair, mismatch repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, base-excision repair, gap-filling, transcription-coupled nucleotide-excision repair, leading strand elongation, telomere maintenance, negative regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, 92 59 113 150 65 121 68 54 62 ENSG00000132661 chr20 23350736 23354777 + NXT1 protein_coding The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]. 29107 GO:0044613, GO:0016607, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005643, nuclear pore central transport channel, nuclear speck, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nuclear pore, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0006913, GO:0006606, GO:0006406, nucleocytoplasmic transport, protein import into nucleus, mRNA export from nucleus, 80 98 191 59 62 172 80 74 149 ENSG00000132664 chr20 18467127 18484643 + POLR3F protein_coding The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 10621 GO:0005829, GO:0005666, GO:0005666, GO:0005666, GO:0005654, cytosol, RNA polymerase III complex, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, GO:0005515, GO:0003899, GO:0003690, protein binding, DNA-directed 5'-3' RNA polymerase activity, double-stranded DNA binding, GO:0051607, GO:0045089, GO:0045087, GO:0032728, GO:0032481, GO:0006383, GO:0006359, defense response to virus, positive regulation of innate immune response, innate immune response, positive regulation of interferon-beta production, positive regulation of type I interferon production, transcription by RNA polymerase III, regulation of transcription by RNA polymerase III, 34 32 31 25 37 21 17 25 33 ENSG00000132669 chr20 19757606 20002459 + RIN2 protein_coding The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]. 54453 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0030695, GO:0005096, GO:0005085, GTPase regulator activity, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:2001214, GO:1904906, GO:0043547, GO:0010595, GO:0007264, GO:0006897, positive regulation of vasculogenesis, positive regulation of endothelial cell-matrix adhesion via fibronectin, positive regulation of GTPase activity, positive regulation of endothelial cell migration, small GTPase mediated signal transduction, endocytosis, 3 4 5 11 12 6 3 2 0 ENSG00000132670 chr20 2864184 3039076 + PTPRA protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]. 5786 GO:0098685, GO:0070062, GO:0043235, GO:0016020, GO:0005925, GO:0005887, GO:0005886, Schaffer collateral - CA1 synapse, extracellular exosome, receptor complex, membrane, focal adhesion, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005001, GO:0004725, GO:0004725, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0051893, GO:0050804, GO:0035335, GO:0008286, GO:0007411, GO:0007229, GO:0006470, GO:0000165, regulation of focal adhesion assembly, modulation of chemical synaptic transmission, peptidyl-tyrosine dephosphorylation, insulin receptor signaling pathway, axon guidance, integrin-mediated signaling pathway, protein dephosphorylation, MAPK cascade, 364 373 374 325 236 309 255 227 225 ENSG00000132671 chr20 23035386 23036812 + SSTR4 protein_coding Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008]. 6754 GO:0043005, GO:0005887, GO:0005886, GO:0005737, neuron projection, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0042923, GO:0042277, GO:0004994, GO:0004930, neuropeptide binding, peptide binding, somatostatin receptor activity, G protein-coupled receptor activity, GO:0106072, GO:0090238, GO:0071385, GO:0070374, GO:0038170, GO:0030900, GO:0016477, GO:0008285, GO:0007218, GO:0007187, GO:0007186, negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, positive regulation of arachidonic acid secretion, cellular response to glucocorticoid stimulus, positive regulation of ERK1 and ERK2 cascade, somatostatin signaling pathway, forebrain development, cell migration, negative regulation of cell population proliferation, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 1 0 0 3 1 2 0 1 0 ENSG00000132676 chr1 155687960 155739010 + DAP3 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]. 7818 GO:0005763, GO:0005763, GO:0005743, GO:0005739, GO:0005654, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0005525, GO:0005515, GO:0003735, GO:0003723, GTP binding, protein binding, structural constituent of ribosome, RNA binding, GO:0097190, GO:0070126, GO:0070125, apoptotic signaling pathway, mitochondrial translational termination, mitochondrial translational elongation, 382 335 446 423 437 517 372 290 397 ENSG00000132677 chr1 156369212 156385219 + RHBG protein_coding This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 57127 GO:0046658, GO:0030659, GO:0016323, GO:0016323, GO:0014731, GO:0005887, GO:0005887, GO:0005886, GO:0005886, anchored component of plasma membrane, cytoplasmic vesicle membrane, basolateral plasma membrane, basolateral plasma membrane, spectrin-associated cytoskeleton, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0030506, GO:0008519, GO:0008519, GO:0008519, GO:0008519, ankyrin binding, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, GO:0072488, GO:0070634, GO:0015696, GO:0015696, ammonium transmembrane transport, transepithelial ammonium transport, ammonium transport, ammonium transport, 0 0 0 0 0 0 0 0 0 ENSG00000132680 chr1 155913043 155934400 - KHDC4 protein_coding 22889 GO:0005737, GO:0005681, GO:0005634, GO:0005634, cytoplasm, spliceosomal complex, nucleus, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0006376, mRNA splice site selection, 473 553 634 570 630 690 631 581 529 ENSG00000132681 chr1 160151570 160186977 + ATP1A4 protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 480 GO:0120200, GO:0097733, GO:0097225, GO:0045121, GO:0005890, GO:0005890, GO:0005887, GO:0005886, GO:0005886, rod photoreceptor outer segment, photoreceptor cell cilium, sperm midpiece, membrane raft, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0046872, GO:0019900, GO:0019829, GO:0005524, GO:0005515, GO:0005391, GO:0005391, GO:0005391, GO:0005391, metal ion binding, kinase binding, ATPase-coupled cation transmembrane transporter activity, ATP binding, protein binding, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, GO:1990573, GO:1903779, GO:1902600, GO:1902600, GO:0150104, GO:0071805, GO:0071805, GO:0042391, GO:0036376, GO:0035725, GO:0035725, GO:0034220, GO:0030641, GO:0030317, GO:0030317, GO:0030007, GO:0010248, GO:0009566, GO:0007283, GO:0007166, GO:0006883, GO:0006814, GO:0006813, GO:0006811, potassium ion import across plasma membrane, regulation of cardiac conduction, proton transmembrane transport, proton transmembrane transport, transport across blood-brain barrier, potassium ion transmembrane transport, potassium ion transmembrane transport, regulation of membrane potential, sodium ion export across plasma membrane, sodium ion transmembrane transport, sodium ion transmembrane transport, ion transmembrane transport, regulation of cellular pH, flagellated sperm motility, flagellated sperm motility, cellular potassium ion homeostasis, establishment or maintenance of transmembrane electrochemical gradient, fertilization, spermatogenesis, cell surface receptor signaling pathway, cellular sodium ion homeostasis, sodium ion transport, potassium ion transport, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000132688 chr1 156668763 156677397 - NES protein_coding This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011]. 10763 GO:0045111, GO:0005882, GO:0005882, GO:0005737, intermediate filament cytoskeleton, intermediate filament, intermediate filament, cytoplasm, GO:0031730, GO:0019215, GO:0005515, GO:0003674, CCR5 chemokine receptor binding, intermediate filament binding, protein binding, molecular_function, GO:2000179, GO:0072089, GO:0048858, GO:0043524, GO:0043086, GO:0032091, GO:0031076, GO:0030844, GO:0030844, GO:0007420, GO:0007417, GO:0000086, positive regulation of neural precursor cell proliferation, stem cell proliferation, cell projection morphogenesis, negative regulation of neuron apoptotic process, negative regulation of catalytic activity, negative regulation of protein binding, embryonic camera-type eye development, positive regulation of intermediate filament depolymerization, positive regulation of intermediate filament depolymerization, brain development, central nervous system development, G2/M transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000132692 chr1 156641390 156659532 + BCAN protein_coding This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 63827 GO:0098978, GO:0043202, GO:0031225, GO:0031012, GO:0005796, GO:0005576, glutamatergic synapse, lysosomal lumen, anchored component of membrane, extracellular matrix, Golgi lumen, extracellular region, GO:0030246, GO:0005540, GO:0005515, carbohydrate binding, hyaluronic acid binding, protein binding, GO:0060074, GO:0030208, GO:0030207, GO:0030206, GO:0030198, GO:0021766, GO:0007417, GO:0007155, GO:0001501, synapse maturation, dermatan sulfate biosynthetic process, chondroitin sulfate catabolic process, chondroitin sulfate biosynthetic process, extracellular matrix organization, hippocampus development, central nervous system development, cell adhesion, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000132693 chr1 159712289 159714589 - CRP protein_coding The protein encoded by this gene belongs to the pentraxin family which also includes serum amyloid P component protein and pentraxin 3. Pentraxins are involved in complement activation and amplification via communication with complement initiation pattern recognition molecules, but also complement regulation via recruitment of complement regulators. The encoded protein has a calcium dependent ligand binding domain with a distinctive flattened beta-jellyroll structure. It exists in two forms as either a pentamer in circulation or as a nonsoluble monomer in tissues. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020]. 1401 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0050750, GO:0046790, GO:0042802, GO:0033265, GO:0030169, GO:0030169, GO:0005515, GO:0005509, GO:0001849, GO:0001849, low-density lipoprotein particle receptor binding, virion binding, identical protein binding, choline binding, low-density lipoprotein particle binding, low-density lipoprotein particle binding, protein binding, calcium ion binding, complement component C1q complex binding, complement component C1q complex binding, GO:0097756, GO:0097756, GO:0050830, GO:0045087, GO:0044793, GO:0032945, GO:0032930, GO:0032677, GO:0010888, GO:0010745, GO:0010628, GO:0008228, GO:0006958, GO:0006954, GO:0006953, negative regulation of blood vessel diameter, negative regulation of blood vessel diameter, defense response to Gram-positive bacterium, innate immune response, negative regulation by host of viral process, negative regulation of mononuclear cell proliferation, positive regulation of superoxide anion generation, regulation of interleukin-8 production, negative regulation of lipid storage, negative regulation of macrophage derived foam cell differentiation, positive regulation of gene expression, opsonization, complement activation, classical pathway, inflammatory response, acute-phase response, 0 1 0 0 0 0 0 0 0 ENSG00000132694 chr1 156934840 157045370 - ARHGEF11 protein_coding Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 9826 GO:0016020, GO:0005829, GO:0005737, membrane, cytosol, cytoplasm, GO:0005515, GO:0005096, GO:0005085, GO:0001664, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, G protein-coupled receptor binding, GO:0051056, GO:0045893, GO:0043547, GO:0043065, GO:0030036, GO:0030010, GO:0007266, GO:0007186, GO:0007186, GO:0006941, GO:0001558, regulation of small GTPase mediated signal transduction, positive regulation of transcription, DNA-templated, positive regulation of GTPase activity, positive regulation of apoptotic process, actin cytoskeleton organization, establishment of cell polarity, Rho protein signal transduction, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, striated muscle contraction, regulation of cell growth, 970 1226 1118 722 1308 941 895 886 751 ENSG00000132698 chr1 156061160 156070514 + RAB25 protein_coding The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]. 57111 GO:0070062, GO:0055037, GO:0031410, GO:0031260, GO:0031143, GO:0005768, extracellular exosome, recycling endosome, cytoplasmic vesicle, pseudopodium membrane, pseudopodium, endosome, GO:0031489, GO:0005525, GO:0005515, GO:0003924, myosin V binding, GTP binding, protein binding, GTPase activity, GO:0060627, GO:0031268, GO:0015031, GO:0010634, GO:0008284, GO:0006887, GO:0003382, regulation of vesicle-mediated transport, pseudopodium organization, protein transport, positive regulation of epithelial cell migration, positive regulation of cell population proliferation, exocytosis, epithelial cell morphogenesis, 1 0 0 8 0 0 2 0 2 ENSG00000132702 chr1 156619294 156625725 + HAPLN2 protein_coding 60484 GO:0031012, extracellular matrix, GO:0005540, GO:0005515, hyaluronic acid binding, protein binding, GO:0085029, GO:0008065, GO:0007417, GO:0007155, GO:0001501, extracellular matrix assembly, establishment of blood-nerve barrier, central nervous system development, cell adhesion, skeletal system development, 0 0 0 0 0 8 0 0 0 ENSG00000132703 chr1 159587825 159588865 + APCS protein_coding The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]. 325 GO:0072562, GO:0070062, GO:0062023, GO:0062023, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0051082, GO:0046790, GO:0042802, GO:0030246, GO:0030169, GO:0005515, GO:0005509, GO:0001849, GO:0001849, unfolded protein binding, virion binding, identical protein binding, carbohydrate binding, low-density lipoprotein particle binding, protein binding, calcium ion binding, complement component C1q complex binding, complement component C1q complex binding, GO:1903019, GO:1903016, GO:0061045, GO:0051131, GO:0048525, GO:0046597, GO:0045656, GO:0045087, GO:0045087, GO:0044871, GO:0044869, GO:0044793, GO:0044267, GO:0006958, GO:0006953, GO:0006457, GO:0002674, negative regulation of glycoprotein metabolic process, negative regulation of exo-alpha-sialidase activity, negative regulation of wound healing, chaperone-mediated protein complex assembly, negative regulation of viral process, negative regulation of viral entry into host cell, negative regulation of monocyte differentiation, innate immune response, innate immune response, negative regulation by host of viral glycoprotein metabolic process, negative regulation by host of viral exo-alpha-sialidase activity, negative regulation by host of viral process, cellular protein metabolic process, complement activation, classical pathway, acute-phase response, protein folding, negative regulation of acute inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000132704 chr1 157745733 157777132 - FCRL2 protein_coding This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Apr 2009]. 79368 GO:0016021, GO:0009986, GO:0005887, integral component of membrane, cell surface, integral component of plasma membrane, GO:0035591, GO:0019903, GO:0005515, GO:0004888, signaling adaptor activity, protein phosphatase binding, protein binding, transmembrane signaling receptor activity, GO:0007267, GO:0007166, cell-cell signaling, cell surface receptor signaling pathway, 5 13 3 4 34 26 21 19 4 ENSG00000132716 chr1 160215715 160262531 - DCAF8 protein_coding This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]. 50717 GO:0080008, GO:0080008, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 424 543 599 562 714 673 613 445 481 ENSG00000132718 chr1 155859509 155885199 + SYT11 protein_coding This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010]. 23208 GO:0099059, GO:0098793, GO:0098685, GO:0070382, GO:0060077, GO:0060076, GO:0055038, GO:0055037, GO:0048787, GO:0048471, GO:0045335, GO:0045202, GO:0043204, GO:0043197, GO:0043195, GO:0043005, GO:0032009, GO:0031982, GO:0030665, GO:0030425, GO:0030424, GO:0030424, GO:0014069, GO:0008021, GO:0008021, GO:0008021, GO:0005886, GO:0005802, GO:0005765, GO:0005764, GO:0001891, integral component of presynaptic active zone membrane, presynapse, Schaffer collateral - CA1 synapse, exocytic vesicle, inhibitory synapse, excitatory synapse, recycling endosome membrane, recycling endosome, presynaptic active zone membrane, perinuclear region of cytoplasm, phagocytic vesicle, synapse, perikaryon, dendritic spine, terminal bouton, neuron projection, early phagosome, vesicle, clathrin-coated vesicle membrane, dendrite, axon, axon, postsynaptic density, synaptic vesicle, synaptic vesicle, synaptic vesicle, plasma membrane, trans-Golgi network, lysosomal membrane, lysosome, phagocytic cup, GO:0048487, GO:0042802, GO:0031625, GO:0031369, GO:0030276, GO:0005544, GO:0005544, GO:0005515, GO:0005509, GO:0005509, GO:0001786, GO:0000149, beta-tubulin binding, identical protein binding, ubiquitin protein ligase binding, translation initiation factor binding, clathrin binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:1990927, GO:1905469, GO:1905171, GO:1905162, GO:1905154, GO:1903979, GO:1900424, GO:1900243, GO:1900186, GO:0071277, GO:0051650, GO:0050765, GO:0046929, GO:0045806, GO:0033602, GO:0032720, GO:0032715, GO:0017158, GO:0017156, GO:0016192, GO:0014059, GO:0007613, GO:0007612, GO:0006914, GO:0006906, GO:0001818, GO:0001778, calcium ion regulated lysosome exocytosis, negative regulation of clathrin-coated pit assembly, positive regulation of protein localization to phagocytic vesicle, regulation of phagosome maturation, negative regulation of membrane invagination, negative regulation of microglial cell activation, regulation of defense response to bacterium, negative regulation of synaptic vesicle endocytosis, negative regulation of clathrin-dependent endocytosis, cellular response to calcium ion, establishment of vesicle localization, negative regulation of phagocytosis, negative regulation of neurotransmitter secretion, negative regulation of endocytosis, negative regulation of dopamine secretion, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, memory, learning, autophagy, vesicle fusion, negative regulation of cytokine production, plasma membrane repair, 92 71 109 76 55 152 64 56 82 ENSG00000132740 chr11 68903842 68940602 + IGHMBP2 protein_coding This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]. 3508 GO:1990904, GO:0030426, GO:0030424, GO:0016020, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, growth cone, axon, membrane, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0043139, GO:0043139, GO:0043022, GO:0042802, GO:0032574, GO:0008270, GO:0008186, GO:0008134, GO:0008094, GO:0005524, GO:0005515, GO:0003723, GO:0003697, GO:0003678, GO:0003677, GO:0000049, 5'-3' DNA helicase activity, 5'-3' DNA helicase activity, ribosome binding, identical protein binding, 5'-3' RNA helicase activity, zinc ion binding, RNA-dependent ATPase activity, transcription factor binding, DNA-dependent ATPase activity, ATP binding, protein binding, RNA binding, single-stranded DNA binding, DNA helicase activity, DNA binding, tRNA binding, GO:0032508, GO:0006412, GO:0006310, GO:0006281, GO:0006260, DNA duplex unwinding, translation, DNA recombination, DNA repair, DNA replication, 125 183 249 177 230 300 196 171 243 ENSG00000132744 chr11 67642555 67650659 - ACY3 protein_coding 91703 GO:0070062, GO:0016324, GO:0005829, GO:0005829, extracellular exosome, apical plasma membrane, cytosol, cytosol, GO:0046872, GO:0042802, GO:0016811, GO:0016788, GO:0005515, GO:0004046, GO:0004046, GO:0003674, metal ion binding, identical protein binding, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides, hydrolase activity, acting on ester bonds, protein binding, aminoacylase activity, aminoacylase activity, molecular_function, GO:0016032, GO:0008150, GO:0006805, viral process, biological_process, xenobiotic metabolic process, 1 0 0 3 0 0 0 0 0 ENSG00000132746 chr11 67662162 67681200 - ALDH3B2 protein_coding This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]. 222 GO:0005811, lipid droplet, GO:0043878, GO:0004030, GO:0004029, GO:0004028, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity, aldehyde dehydrogenase [NAD(P)+] activity, aldehyde dehydrogenase (NAD+) activity, 3-chloroallyl aldehyde dehydrogenase activity, GO:0055114, GO:0030148, GO:0006629, GO:0006068, GO:0006066, oxidation-reduction process, sphingolipid biosynthetic process, lipid metabolic process, ethanol catabolic process, alcohol metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000132749 chr11 68707440 68751564 - TESMIN protein_coding Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9633 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0046872, metal ion binding, GO:0030154, GO:0010038, GO:0007283, GO:0007275, GO:0006875, GO:0006355, cell differentiation, response to metal ion, spermatogenesis, multicellular organism development, cellular metal ion homeostasis, regulation of transcription, DNA-templated, 54 29 48 42 49 30 35 36 24 ENSG00000132763 chr1 45500053 45513382 + MMACHC protein_coding The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]. 25974 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:0071949, GO:0071949, GO:0043295, GO:0042803, GO:0033787, GO:0033787, GO:0033787, GO:0032451, GO:0032451, GO:0031419, GO:0016740, GO:0016491, GO:0016491, GO:0005515, FAD binding, FAD binding, glutathione binding, protein homodimerization activity, cyanocobalamin reductase (cyanide-eliminating) activity, cyanocobalamin reductase (cyanide-eliminating) activity, cyanocobalamin reductase (cyanide-eliminating) activity, demethylase activity, demethylase activity, cobalamin binding, transferase activity, oxidoreductase activity, oxidoreductase activity, protein binding, GO:0070988, GO:0055114, GO:0055114, GO:0009235, GO:0009235, GO:0009235, GO:0009235, GO:0006749, demethylation, oxidation-reduction process, oxidation-reduction process, cobalamin metabolic process, cobalamin metabolic process, cobalamin metabolic process, cobalamin metabolic process, glutathione metabolic process, 19 5 30 47 14 60 22 24 28 ENSG00000132768 chr1 43970000 43973369 + DPH2 protein_coding This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 1802 GO:0005829, cytosol, GO:0090560, GO:0005515, 2-(3-amino-3-carboxypropyl)histidine synthase activity, protein binding, GO:0017183, GO:0017183, GO:0017183, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, 12 6 15 13 10 45 33 9 27 ENSG00000132773 chr1 45339670 45343975 + TOE1 protein_coding 114034 GO:0016607, GO:0016604, GO:0015030, GO:0015030, GO:0005737, GO:0005737, GO:0005730, GO:0005654, nuclear speck, nuclear body, Cajal body, Cajal body, cytoplasm, cytoplasm, nucleolus, nucleoplasm, GO:0046872, GO:0017069, GO:0017069, GO:0005515, GO:0004535, GO:0003723, GO:0000175, GO:0000175, metal ion binding, snRNA binding, snRNA binding, protein binding, poly(A)-specific ribonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:0090503, GO:0034472, GO:0034472, RNA phosphodiester bond hydrolysis, exonucleolytic, snRNA 3'-end processing, snRNA 3'-end processing, 43 49 60 97 51 98 73 33 55 ENSG00000132780 chr1 45583846 45618904 + NASP protein_coding This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]. 4678 GO:0032991, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, protein-containing complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0042393, GO:0042393, GO:0005515, histone binding, histone binding, protein binding, GO:0043486, GO:0034080, GO:0033574, GO:0015031, GO:0008584, GO:0006336, GO:0006335, GO:0006335, GO:0006335, GO:0006260, GO:0001824, GO:0000082, histone exchange, CENP-A containing nucleosome assembly, response to testosterone, protein transport, male gonad development, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, DNA replication-dependent nucleosome assembly, DNA replication-dependent nucleosome assembly, DNA replication, blastocyst development, G1/S transition of mitotic cell cycle, 279 290 349 484 379 451 421 273 323 ENSG00000132781 chr1 45329163 45340470 - MUTYH protein_coding This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]. 4595 GO:0005739, GO:0005654, GO:0005654, GO:0005634, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:0051539, GO:0046872, GO:0035485, GO:0034039, GO:0032408, GO:0032407, GO:0032406, GO:0032405, GO:0032357, GO:0019104, GO:0005515, GO:0000701, GO:0000701, 4 iron, 4 sulfur cluster binding, metal ion binding, adenine/guanine mispair binding, 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity, MutSbeta complex binding, MutSalpha complex binding, MutLbeta complex binding, MutLalpha complex binding, oxidized purine DNA binding, DNA N-glycosylase activity, protein binding, purine-specific mismatch base pair DNA N-glycosylase activity, purine-specific mismatch base pair DNA N-glycosylase activity, GO:0045007, GO:0006298, GO:0006284, depurination, mismatch repair, base-excision repair, 32 44 44 83 56 110 51 37 31 ENSG00000132792 chr20 37693955 37872129 + CTNNBL1 protein_coding The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]. 56259 GO:0016020, GO:0005829, GO:0005813, GO:0005681, GO:0005681, GO:0005654, GO:0005654, GO:0005634, GO:0000974, membrane, cytosol, centrosome, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, Prp19 complex, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:0043065, GO:0016445, GO:0006915, GO:0000398, positive regulation of apoptotic process, somatic diversification of immunoglobulins, apoptotic process, mRNA splicing, via spliceosome, 82 76 65 81 79 105 80 43 83 ENSG00000132793 chr20 41340920 41360582 + LPIN3 protein_coding The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 64900 GO:0005789, GO:0005634, endoplasmic reticulum membrane, nucleus, GO:0008195, GO:0003713, phosphatidate phosphatase activity, transcription coactivator activity, GO:0045944, GO:0044255, GO:0032869, GO:0019432, GO:0016311, GO:0009062, GO:0006656, GO:0006646, positive regulation of transcription by RNA polymerase II, cellular lipid metabolic process, cellular response to insulin stimulus, triglyceride biosynthetic process, dephosphorylation, fatty acid catabolic process, phosphatidylcholine biosynthetic process, phosphatidylethanolamine biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000132801 chr20 45857617 45879122 + ZSWIM3 protein_coding 140831 GO:0008270, GO:0005515, zinc ion binding, protein binding, 24 28 32 26 29 46 24 11 27 ENSG00000132819 chr20 57391407 57409333 + RBM38 protein_coding 55544 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0043484, GO:0030154, GO:0016032, GO:0010830, GO:0008380, GO:0007049, GO:0006397, regulation of RNA splicing, cell differentiation, viral process, regulation of myotube differentiation, RNA splicing, cell cycle, mRNA processing, 602 610 918 361 371 434 489 329 389 ENSG00000132821 chr20 37903104 37945350 + VSTM2L protein_coding 128434 GO:0030424, GO:0005886, GO:0005737, GO:0005576, axon, plasma membrane, cytoplasm, extracellular region, GO:0098632, GO:0005515, cell-cell adhesion mediator activity, protein binding, GO:0070593, GO:0043524, GO:0007411, GO:0007156, dendrite self-avoidance, negative regulation of neuron apoptotic process, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 1 0 0 0 0 0 0 ENSG00000132823 chr20 44196496 44210791 - OSER1 protein_coding 51526 GO:0070301, cellular response to hydrogen peroxide, 2239 2431 2774 3432 3924 3946 2574 2441 2702 ENSG00000132824 chr20 44496221 44522109 - SERINC3 protein_coding 10955 GO:0048471, GO:0016021, GO:0016020, GO:0005886, GO:0000139, perinuclear region of cytoplasm, integral component of membrane, membrane, plasma membrane, Golgi membrane, GO:0005515, protein binding, GO:1902237, GO:0051607, GO:0045087, GO:0016032, GO:0009597, GO:0006665, GO:0006658, GO:0006564, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, defense response to virus, innate immune response, viral process, detection of virus, sphingolipid metabolic process, phosphatidylserine metabolic process, L-serine biosynthetic process, 4261 4712 5948 1824 2523 2281 1961 1997 1838 ENSG00000132825 chr20 59936668 59940297 - PPP1R3D protein_coding Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]. 5509 GO:0043231, GO:0042587, GO:0000164, intracellular membrane-bounded organelle, glycogen granule, protein phosphatase type 1 complex, GO:2001069, GO:0008157, GO:0005515, GO:0004722, glycogen binding, protein phosphatase 1 binding, protein binding, protein serine/threonine phosphatase activity, GO:0006470, GO:0005981, GO:0005979, GO:0005977, protein dephosphorylation, regulation of glycogen catabolic process, regulation of glycogen biosynthetic process, glycogen metabolic process, 539 319 417 97 167 116 123 161 117 ENSG00000132832 chr20 44656451 44696096 - AL139352.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000132837 chr5 78997606 79236038 - DMGDH protein_coding This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 29958 GO:0005759, GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0047865, GO:0047865, GO:0016491, GO:0009055, GO:0003723, dimethylglycine dehydrogenase activity, dimethylglycine dehydrogenase activity, oxidoreductase activity, electron transfer activity, RNA binding, GO:0042426, GO:0042426, GO:0022900, GO:0019695, GO:0006579, choline catabolic process, choline catabolic process, electron transport chain, choline metabolic process, amino-acid betaine catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000132840 chr5 79069717 79089466 + BHMT2 protein_coding Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 23743 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0061627, GO:0061627, GO:0047150, GO:0008270, S-methylmethionine-homocysteine S-methyltransferase activity, S-methylmethionine-homocysteine S-methyltransferase activity, betaine-homocysteine S-methyltransferase activity, zinc ion binding, GO:0071267, GO:0046500, GO:0033477, GO:0032259, GO:0006577, GO:0000096, L-methionine salvage, S-adenosylmethionine metabolic process, S-methylmethionine metabolic process, methylation, amino-acid betaine metabolic process, sulfur amino acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000132842 chr5 78000525 78294755 - AP3B1 protein_coding This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]. 8546 GO:1904115, GO:0045202, GO:0030665, GO:0030131, GO:0030123, GO:0016020, GO:0005794, GO:0005765, GO:0005739, axon cytoplasm, synapse, clathrin-coated vesicle membrane, clathrin adaptor complex, AP-3 adaptor complex, membrane, Golgi apparatus, lysosomal membrane, mitochondrion, GO:0030742, GO:0019903, GO:0005515, GTP-dependent protein binding, protein phosphatase binding, protein binding, GO:0048490, GO:0048490, GO:0032438, GO:0016192, GO:0008089, GO:0006886, anterograde synaptic vesicle transport, anterograde synaptic vesicle transport, melanosome organization, vesicle-mediated transport, anterograde axonal transport, intracellular protein transport, 719 656 1025 354 531 606 410 503 475 ENSG00000132846 chr5 77072072 77087323 - ZBED3 protein_coding This gene belongs to a class of genes that arose through hAT DNA transposition and that encode regulatory proteins. This gene is upregulated in lung cancer tissues, where the encoded protein causes an accumulation of beta-catenin and enhanced lung cancer cell invasion. In addition, the encoded protein can be secreted and be involved in resistance to insulin. [provided by RefSeq, Jul 2016]. 84327 GO:0016020, GO:0005829, GO:0005737, GO:0005615, GO:0000785, membrane, cytosol, cytoplasm, extracellular space, chromatin, GO:0046872, GO:0003677, GO:0000981, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0090263, GO:0051646, GO:0051643, GO:0051293, GO:0050821, GO:0045944, GO:0040019, GO:0032868, GO:0016055, GO:0009749, GO:0007015, GO:0001933, positive regulation of canonical Wnt signaling pathway, mitochondrion localization, endoplasmic reticulum localization, establishment of spindle localization, protein stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of embryonic development, response to insulin, Wnt signaling pathway, response to glucose, actin filament organization, negative regulation of protein phosphorylation, 5 0 8 4 3 8 3 0 3 ENSG00000132849 chr1 61742406 62178675 + PATJ protein_coding This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]. 10207 GO:0070062, GO:0048471, GO:0034451, GO:0030054, GO:0016324, GO:0005923, GO:0005886, GO:0005829, GO:0005813, extracellular exosome, perinuclear region of cytoplasm, centriolar satellite, cell junction, apical plasma membrane, bicellular tight junction, plasma membrane, cytosol, centrosome, GO:0005515, protein binding, GO:0120192, GO:0070830, GO:0035556, GO:0035089, tight junction assembly, bicellular tight junction assembly, intracellular signal transduction, establishment of apical/basal cell polarity, 74 75 165 136 19 134 110 23 74 ENSG00000132854 chr1 62236979 62319414 - KANK4 protein_coding 163782 GO:0015630, GO:0005856, GO:0005829, GO:0005737, GO:0005737, microtubule cytoskeleton, cytoskeleton, cytosol, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0030837, negative regulation of actin filament polymerization, 0 0 0 0 0 0 0 0 0 ENSG00000132855 chr1 62597487 62606159 + ANGPTL3 protein_coding This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]. 27329 GO:0062023, GO:0030027, GO:0009986, GO:0005794, GO:0005769, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, lamellipodium, cell surface, Golgi apparatus, early endosome, extracellular space, extracellular space, extracellular region, GO:0008201, GO:0008083, GO:0005178, GO:0005102, GO:0004859, GO:0004857, heparin binding, growth factor activity, integrin binding, signaling receptor binding, phospholipase inhibitor activity, enzyme inhibitor activity, GO:0070328, GO:0070328, GO:0070328, GO:0055091, GO:0055091, GO:0055090, GO:0055088, GO:0051005, GO:0051004, GO:0050996, GO:0048844, GO:0045766, GO:0042632, GO:0042632, GO:0030335, GO:0019915, GO:0010519, GO:0010519, GO:0009725, GO:0009395, GO:0009395, GO:0008203, GO:0007229, GO:0007165, GO:0007160, GO:0006644, GO:0006631, GO:0006071, GO:0001525, triglyceride homeostasis, triglyceride homeostasis, triglyceride homeostasis, phospholipid homeostasis, phospholipid homeostasis, acylglycerol homeostasis, lipid homeostasis, negative regulation of lipoprotein lipase activity, regulation of lipoprotein lipase activity, positive regulation of lipid catabolic process, artery morphogenesis, positive regulation of angiogenesis, cholesterol homeostasis, cholesterol homeostasis, positive regulation of cell migration, lipid storage, negative regulation of phospholipase activity, negative regulation of phospholipase activity, response to hormone, phospholipid catabolic process, phospholipid catabolic process, cholesterol metabolic process, integrin-mediated signaling pathway, signal transduction, cell-matrix adhesion, phospholipid metabolic process, fatty acid metabolic process, glycerol metabolic process, angiogenesis, 0 1 1 0 0 0 0 0 0 ENSG00000132872 chr18 43267878 43277650 - SYT4 protein_coding 6860 GO:1990742, GO:0099066, GO:0098992, GO:0097449, GO:0070382, GO:0048471, GO:0045202, GO:0044306, GO:0043231, GO:0043025, GO:0032127, GO:0030425, GO:0030424, GO:0030285, GO:0030173, GO:0005886, GO:0005886, microvesicle, integral component of neuronal dense core vesicle membrane, neuronal dense core vesicle, astrocyte projection, exocytic vesicle, perinuclear region of cytoplasm, synapse, neuron projection terminus, intracellular membrane-bounded organelle, neuronal cell body, dense core granule membrane, dendrite, axon, integral component of synaptic vesicle membrane, integral component of Golgi membrane, plasma membrane, plasma membrane, GO:0046982, GO:0042803, GO:0030348, GO:0030276, GO:0017075, GO:0005544, GO:0005515, GO:0005509, GO:0001786, GO:0000149, protein heterodimerization activity, protein homodimerization activity, syntaxin-3 binding, clathrin binding, syntaxin-1 binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:2000301, GO:1905433, GO:1905415, GO:1905414, GO:1903861, GO:0099519, GO:0071277, GO:0061792, GO:0061782, GO:0050709, GO:0048174, GO:0045956, GO:0045955, GO:0033604, GO:0031339, GO:0030100, GO:0017158, GO:0017156, GO:0016192, GO:0014059, GO:0014049, GO:0007613, GO:0007420, GO:0007269, GO:0006906, negative regulation of synaptic vesicle exocytosis, negative regulation of retrograde trans-synaptic signaling by neuropeptide, positive regulation of dense core granule exocytosis, negative regulation of dense core granule exocytosis, positive regulation of dendrite extension, dense core granule cytoskeletal transport, cellular response to calcium ion, secretory granule maturation, vesicle fusion with vesicle, negative regulation of protein secretion, negative regulation of short-term neuronal synaptic plasticity, positive regulation of calcium ion-dependent exocytosis, negative regulation of calcium ion-dependent exocytosis, negative regulation of catecholamine secretion, negative regulation of vesicle fusion, regulation of endocytosis, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, positive regulation of glutamate secretion, memory, brain development, neurotransmitter secretion, vesicle fusion, 0 1 5 0 0 2 0 0 1 ENSG00000132874 chr18 45212995 45683686 + SLC14A2 protein_coding The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]. 8170 GO:0016324, GO:0016021, GO:0016020, GO:0005886, apical plasma membrane, integral component of membrane, membrane, plasma membrane, GO:0050839, GO:0015204, GO:0005515, cell adhesion molecule binding, urea transmembrane transporter activity, protein binding, GO:0071918, GO:0055085, urea transmembrane transport, transmembrane transport, 3 1 2 1 0 0 1 1 2 ENSG00000132879 chr1 11654375 11663327 + FBXO44 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]. 93611 GO:0019005, GO:0019005, GO:0005829, GO:0005737, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytoplasm, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0043687, GO:0031146, GO:0030433, GO:0010498, GO:0010498, GO:0006516, GO:0000209, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent ERAD pathway, proteasomal protein catabolic process, proteasomal protein catabolic process, glycoprotein catabolic process, protein polyubiquitination, 22 24 41 69 32 80 52 24 47 ENSG00000132881 chr1 16231700 16237162 - CPLANE2 protein_coding 79363 GO:0036064, GO:0005737, GO:0005654, ciliary basal body, cytoplasm, nucleoplasm, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0060271, GO:0034613, GO:0031338, GO:0017157, GO:0015031, GO:0006887, cilium assembly, cellular protein localization, regulation of vesicle fusion, regulation of exocytosis, protein transport, exocytosis, 2 6 3 0 7 1 0 7 4 ENSG00000132906 chr1 15490832 15526534 - CASP9 protein_coding This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 842 GO:0043293, GO:0032991, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005634, apoptosome, protein-containing complex, cytosol, cytosol, mitochondrion, cytoplasm, nucleus, GO:0097200, GO:0097199, GO:0097199, GO:0097153, GO:0019901, GO:0017124, GO:0008233, GO:0008047, GO:0005515, GO:0004197, GO:0004197, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, protein kinase binding, SH3 domain binding, peptidase activity, enzyme activator activity, protein binding, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:2001020, GO:0097194, GO:0097192, GO:0071887, GO:0071549, GO:0046677, GO:0043525, GO:0043065, GO:0042770, GO:0034644, GO:0034349, GO:0032496, GO:0032355, GO:0032025, GO:0030220, GO:0008635, GO:0008630, GO:0008630, GO:0007568, GO:0006974, GO:0006919, GO:0006915, GO:0006915, GO:0006915, GO:0006508, GO:0002931, GO:0001822, regulation of response to DNA damage stimulus, execution phase of apoptosis, extrinsic apoptotic signaling pathway in absence of ligand, leukocyte apoptotic process, cellular response to dexamethasone stimulus, response to antibiotic, positive regulation of neuron apoptotic process, positive regulation of apoptotic process, signal transduction in response to DNA damage, cellular response to UV, glial cell apoptotic process, response to lipopolysaccharide, response to estradiol, response to cobalt ion, platelet formation, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, intrinsic apoptotic signaling pathway in response to DNA damage, intrinsic apoptotic signaling pathway in response to DNA damage, aging, cellular response to DNA damage stimulus, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, apoptotic process, apoptotic process, proteolysis, response to ischemia, kidney development, 308 274 425 242 235 225 248 169 200 ENSG00000132911 chr5 152391532 152433368 - NMUR2 protein_coding This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008]. 56923 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0042924, GO:0005525, GO:0005515, GO:0005229, GO:0004930, GO:0001607, neuromedin U binding, GTP binding, protein binding, intracellular calcium activated chloride channel activity, G protein-coupled receptor activity, neuromedin U receptor activity, GO:1902476, GO:0051930, GO:0050482, GO:0048265, GO:0048016, GO:0043006, GO:0019722, GO:0007631, GO:0007625, GO:0007417, GO:0007267, GO:0007218, GO:0007204, GO:0007200, GO:0007186, GO:0006940, GO:0006816, GO:0002023, chloride transmembrane transport, regulation of sensory perception of pain, arachidonic acid secretion, response to pain, inositol phosphate-mediated signaling, activation of phospholipase A2 activity by calcium-mediated signaling, calcium-mediated signaling, feeding behavior, grooming behavior, central nervous system development, cell-cell signaling, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, regulation of smooth muscle contraction, calcium ion transport, reduction of food intake in response to dietary excess, 0 0 0 0 0 0 0 0 0 ENSG00000132912 chr5 150708440 150759109 - DCTN4 protein_coding 51164 GO:0030017, GO:0005938, GO:0005925, GO:0005869, GO:0005868, GO:0005829, GO:0005813, GO:0005737, GO:0005634, GO:0001725, GO:0000922, GO:0000776, sarcomere, cell cortex, focal adhesion, dynactin complex, cytoplasmic dynein complex, cytosol, centrosome, cytoplasm, nucleus, stress fiber, spindle pole, kinetochore, GO:0047485, GO:0005515, protein N-terminus binding, protein binding, GO:0019886, GO:0006888, antigen processing and presentation of exogenous peptide antigen via MHC class II, endoplasmic reticulum to Golgi vesicle-mediated transport, 1039 1078 1289 777 929 1050 908 731 773 ENSG00000132915 chr5 149857955 149944793 - PDE6A protein_coding This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]. 5145 GO:0097381, GO:0042622, GO:0005886, photoreceptor disc membrane, photoreceptor outer segment membrane, plasma membrane, GO:0047555, GO:0046872, GO:0004114, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0060041, GO:0022400, GO:0016056, GO:0007601, GO:0007223, GO:0007165, retina development in camera-type eye, regulation of rhodopsin mediated signaling pathway, rhodopsin mediated signaling pathway, visual perception, Wnt signaling pathway, calcium modulating pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000132932 chr13 25372071 26025851 + ATP8A2 protein_coding The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]. 51761 GO:0016021, GO:0005886, GO:0005886, GO:0005794, GO:0005768, GO:0005654, GO:0001750, integral component of membrane, plasma membrane, plasma membrane, Golgi apparatus, endosome, nucleoplasm, photoreceptor outer segment, GO:0140346, GO:0140326, GO:0090555, GO:0005524, GO:0000287, phosphatidylserine flippase activity, ATPase-coupled intramembrane lipid transporter activity, phosphatidylethanolamine flippase activity, ATP binding, magnesium ion binding, GO:0140331, GO:0061092, GO:0060052, GO:0050908, GO:0050884, GO:0048666, GO:0045332, GO:0043588, GO:0042755, GO:0042472, GO:0040018, GO:0010996, GO:0010976, GO:0010842, GO:0008285, GO:0007568, GO:0007409, GO:0003011, aminophospholipid translocation, positive regulation of phospholipid translocation, neurofilament cytoskeleton organization, detection of light stimulus involved in visual perception, neuromuscular process controlling posture, neuron development, phospholipid translocation, skin development, eating behavior, inner ear morphogenesis, positive regulation of multicellular organism growth, response to auditory stimulus, positive regulation of neuron projection development, retina layer formation, negative regulation of cell population proliferation, aging, axonogenesis, involuntary skeletal muscle contraction, 0 1 0 2 0 3 2 0 1 ENSG00000132938 chr13 28820348 29505947 + MTUS2 protein_coding 23281 GO:0005881, GO:0005813, GO:0005737, GO:0005634, GO:0005634, cytoplasmic microtubule, centrosome, cytoplasm, nucleus, nucleus, GO:0042803, GO:0008017, GO:0008017, GO:0005515, protein homodimerization activity, microtubule binding, microtubule binding, protein binding, 0 0 0 1 0 0 0 0 0 ENSG00000132950 chr13 19823482 19863636 - ZMYM5 protein_coding 9205 GO:0005634, nucleus, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0000122, negative regulation of transcription by RNA polymerase II, 195 182 214 124 189 206 173 195 208 ENSG00000132952 chr13 30617693 30660770 + USPL1 protein_coding 10208 GO:0015030, GO:0015030, GO:0005615, Cajal body, Cajal body, extracellular space, GO:0070140, GO:0070140, GO:0043130, GO:0032183, GO:0032183, GO:0005515, SUMO-specific isopeptidase activity, SUMO-specific isopeptidase activity, ubiquitin binding, SUMO binding, SUMO binding, protein binding, GO:0030576, GO:0030576, GO:0016926, GO:0016926, GO:0009301, GO:0008283, Cajal body organization, Cajal body organization, protein desumoylation, protein desumoylation, snRNA transcription, cell population proliferation, 299 376 454 304 424 464 254 271 324 ENSG00000132953 chr13 20777329 20903048 - XPO4 protein_coding XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009]. 64328 GO:0005829, GO:0005737, GO:0005654, GO:0005643, cytosol, cytoplasm, nucleoplasm, nuclear pore, GO:0005515, GO:0005049, protein binding, nuclear export signal receptor activity, GO:0046827, GO:0006611, positive regulation of protein export from nucleus, protein export from nucleus, 62 38 98 140 54 139 107 27 77 ENSG00000132958 chr13 19422877 19536762 - TPTE2 protein_coding TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]. 93492 GO:0042995, GO:0016021, GO:0005886, GO:0005829, GO:0005789, GO:0005634, GO:0000139, cell projection, integral component of membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, nucleus, Golgi membrane, GO:0016314, GO:0008138, GO:0004725, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein tyrosine phosphatase activity, GO:0051896, GO:0048870, GO:0046856, GO:0035335, GO:0016311, GO:0014065, GO:0008285, GO:0006661, GO:0006470, regulation of protein kinase B signaling, cell motility, phosphatidylinositol dephosphorylation, peptidyl-tyrosine dephosphorylation, dephosphorylation, phosphatidylinositol 3-kinase signaling, negative regulation of cell population proliferation, phosphatidylinositol biosynthetic process, protein dephosphorylation, 0 1 0 0 3 0 0 1 0 ENSG00000132963 chr13 28659104 28678925 + POMP protein_coding The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]. 51371 GO:0031090, GO:0016607, GO:0005829, GO:0005783, GO:0005737, GO:0005634, organelle membrane, nuclear speck, cytosol, endoplasmic reticulum, cytoplasm, nucleus, GO:0005515, protein binding, GO:0043248, GO:0043248, proteasome assembly, proteasome assembly, 425 290 518 341 403 424 369 366 279 ENSG00000132964 chr13 26254104 26405238 + CDK8 protein_coding This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 1024 GO:0032991, GO:0016592, GO:0016592, GO:0016592, GO:0005730, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, mediator complex, mediator complex, mediator complex, nucleolus, nucleoplasm, nucleus, nucleus, GO:0008353, GO:0005524, GO:0005515, GO:0004693, GO:0004672, RNA polymerase II CTD heptapeptide repeat kinase activity, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein kinase activity, GO:0051726, GO:0045944, GO:0006468, GO:0006367, regulation of cell cycle, positive regulation of transcription by RNA polymerase II, protein phosphorylation, transcription initiation from RNA polymerase II promoter, 37 34 25 16 21 46 42 32 26 ENSG00000132965 chr13 30713478 30764426 + ALOX5AP protein_coding This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]. 241 GO:0031965, GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005783, GO:0005635, GO:0005635, GO:0005635, nuclear membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nuclear envelope, nuclear envelope, nuclear envelope, GO:0050544, GO:0047485, GO:0008047, GO:0005515, GO:0004602, GO:0004464, GO:0004364, arachidonic acid binding, protein N-terminus binding, enzyme activator activity, protein binding, glutathione peroxidase activity, leukotriene-C4 synthase activity, glutathione transferase activity, GO:2001301, GO:0098869, GO:0071277, GO:0070207, GO:0043085, GO:0019372, GO:0019370, GO:0019370, GO:0006691, lipoxin biosynthetic process, cellular oxidant detoxification, cellular response to calcium ion, protein homotrimerization, positive regulation of catalytic activity, lipoxygenase pathway, leukotriene biosynthetic process, leukotriene biosynthetic process, leukotriene metabolic process, 5346 3927 9456 1608 3563 3907 2242 3019 3647 ENSG00000132967 chr3 22381819 22382929 + HMGB1P5 transcribed_processed_pseudogene 199 147 263 80 125 111 88 85 71 ENSG00000132970 chr13 26557703 26688948 + WASF3 protein_coding This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]. 10810 GO:0098794, GO:0070062, GO:0031209, GO:0030027, GO:0005856, postsynapse, extracellular exosome, SCAR complex, lamellipodium, cytoskeleton, GO:0071933, GO:0034237, GO:0003779, Arp2/3 complex binding, protein kinase A regulatory subunit binding, actin binding, GO:2000601, GO:0065003, GO:0031643, GO:0030041, GO:0030036, GO:0030032, GO:0014003, GO:0008360, GO:0007010, positive regulation of Arp2/3 complex-mediated actin nucleation, protein-containing complex assembly, positive regulation of myelination, actin filament polymerization, actin cytoskeleton organization, lamellipodium assembly, oligodendrocyte development, regulation of cell shape, cytoskeleton organization, 0 2 0 0 0 0 0 0 0 ENSG00000132972 chr13 24764152 24879921 + RNF17 protein_coding This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]. 56163 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0042802, metal ion binding, identical protein binding, GO:0007286, GO:0007275, spermatid development, multicellular organism development, 0 0 2 0 0 0 0 0 0 ENSG00000132975 chr13 26755200 26760785 - GPR12 protein_coding 2835 GO:0005887, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0031210, GO:0004930, phosphatidylcholine binding, G protein-coupled receptor activity, GO:0019222, GO:0007189, GO:0007186, GO:0006874, regulation of metabolic process, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cellular calcium ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000133019 chr1 239386565 239915452 + CHRM3 protein_coding The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]. 1131 GO:0045211, GO:0045202, GO:0030425, GO:0009925, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005789, postsynaptic membrane, synapse, dendrite, basal plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0042166, GO:0038023, GO:0030594, GO:0016907, GO:0016907, GO:0005515, GO:0004993, GO:0004435, acetylcholine binding, signaling receptor activity, neurotransmitter receptor activity, G protein-coupled acetylcholine receptor activity, G protein-coupled acetylcholine receptor activity, protein binding, G protein-coupled serotonin receptor activity, phosphatidylinositol phospholipase C activity, GO:0098664, GO:0095500, GO:0046541, GO:0045987, GO:0032412, GO:0019722, GO:0007399, GO:0007268, GO:0007213, GO:0007197, GO:0007187, GO:0007186, GO:0007165, GO:0006464, GO:0003056, G protein-coupled serotonin receptor signaling pathway, acetylcholine receptor signaling pathway, saliva secretion, positive regulation of smooth muscle contraction, regulation of ion transmembrane transporter activity, calcium-mediated signaling, nervous system development, chemical synaptic transmission, G protein-coupled acetylcholine receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, signal transduction, cellular protein modification process, regulation of vascular associated smooth muscle contraction, 0 0 0 2 0 3 2 0 0 ENSG00000133020 chr17 10390322 10421950 - MYH8 protein_coding Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]. 4626 GO:0032982, GO:0030017, GO:0005859, GO:0005829, GO:0005737, myosin filament, sarcomere, muscle myosin complex, cytosol, cytoplasm, GO:0051015, GO:0032027, GO:0017018, GO:0016887, GO:0008307, GO:0005524, GO:0005516, GO:0000146, actin filament binding, myosin light chain binding, myosin phosphatase activity, ATPase activity, structural constituent of muscle, ATP binding, calmodulin binding, microfilament motor activity, GO:0046034, GO:0030049, GO:0030049, GO:0006936, GO:0006470, GO:0003009, ATP metabolic process, muscle filament sliding, muscle filament sliding, muscle contraction, protein dephosphorylation, skeletal muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000133026 chr17 8474205 8630761 - MYH10 protein_coding This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 4628 GO:0097513, GO:0070062, GO:0043197, GO:0043025, GO:0042641, GO:0032154, GO:0031594, GO:0030496, GO:0030426, GO:0030027, GO:0016460, GO:0016459, GO:0005938, GO:0005903, GO:0005844, GO:0005829, GO:0005829, GO:0005819, GO:0005737, GO:0005634, GO:0001725, myosin II filament, extracellular exosome, dendritic spine, neuronal cell body, actomyosin, cleavage furrow, neuromuscular junction, midbody, growth cone, lamellipodium, myosin II complex, myosin complex, cell cortex, brush border, polysome, cytosol, cytosol, spindle, cytoplasm, nucleus, stress fiber, GO:0051015, GO:0051015, GO:0048027, GO:0043531, GO:0035613, GO:0030898, GO:0030898, GO:0016887, GO:0005524, GO:0005524, GO:0005516, GO:0005515, GO:0003779, GO:0000146, actin filament binding, actin filament binding, mRNA 5'-UTR binding, ADP binding, RNA stem-loop binding, actin-dependent ATPase activity, actin-dependent ATPase activity, ATPase activity, ATP binding, ATP binding, calmodulin binding, protein binding, actin binding, microfilament motor activity, GO:0098885, GO:0060976, GO:0060041, GO:0055015, GO:0055003, GO:0050885, GO:0050714, GO:0035904, GO:0031032, GO:0030048, GO:0021680, GO:0021678, GO:0021670, GO:0021592, GO:0008360, GO:0008283, GO:0007512, GO:0007411, GO:0007155, GO:0007097, GO:0006930, GO:0006887, GO:0003279, GO:0001778, GO:0001764, GO:0001701, GO:0000281, modification of postsynaptic actin cytoskeleton, coronary vasculature development, retina development in camera-type eye, ventricular cardiac muscle cell development, cardiac myofibril assembly, neuromuscular process controlling balance, positive regulation of protein secretion, aorta development, actomyosin structure organization, actin filament-based movement, cerebellar Purkinje cell layer development, third ventricle development, lateral ventricle development, fourth ventricle development, regulation of cell shape, cell population proliferation, adult heart development, axon guidance, cell adhesion, nuclear migration, substrate-dependent cell migration, cell extension, exocytosis, cardiac septum development, plasma membrane repair, neuron migration, in utero embryonic development, mitotic cytokinesis, 413 558 498 494 951 715 638 681 762 ENSG00000133027 chr17 17505563 17591708 - PEMT protein_coding Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]. 10400 GO:0042383, GO:0031966, GO:0031526, GO:0016021, GO:0005789, sarcolemma, mitochondrial membrane, brush border membrane, integral component of membrane, endoplasmic reticulum membrane, GO:0080101, GO:0008429, GO:0004608, GO:0004608, GO:0000773, phosphatidyl-N-dimethylethanolamine N-methyltransferase activity, phosphatidylethanolamine binding, phosphatidylethanolamine N-methyltransferase activity, phosphatidylethanolamine N-methyltransferase activity, phosphatidyl-N-methylethanolamine N-methyltransferase activity, GO:0120162, GO:0050747, GO:0046500, GO:0046498, GO:0045471, GO:0043200, GO:0042493, GO:0033273, GO:0032259, GO:0008285, GO:0006686, GO:0006656, GO:0006656, GO:0006656, GO:0001835, positive regulation of cold-induced thermogenesis, positive regulation of lipoprotein metabolic process, S-adenosylmethionine metabolic process, S-adenosylhomocysteine metabolic process, response to ethanol, response to amino acid, response to drug, response to vitamin, methylation, negative regulation of cell population proliferation, sphingomyelin biosynthetic process, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, blastocyst hatching, 2 0 8 8 15 39 23 6 19 ENSG00000133028 chr17 10672474 10698375 - SCO1 protein_coding Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]. 6341 GO:0031305, GO:0030016, GO:0005739, integral component of mitochondrial inner membrane, myofibril, mitochondrion, GO:0005515, GO:0005507, protein binding, copper ion binding, GO:1901799, GO:0033617, GO:0033617, GO:0006878, GO:0006825, negative regulation of proteasomal protein catabolic process, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, cellular copper ion homeostasis, copper ion transport, 81 63 86 92 72 119 106 79 82 ENSG00000133030 chr17 17042545 17217679 + MPRIP protein_coding 23164 GO:0015629, GO:0015629, GO:0005925, GO:0005829, actin cytoskeleton, actin cytoskeleton, focal adhesion, cytosol, GO:0051015, GO:0045296, GO:0005515, actin filament binding, cadherin binding, protein binding, GO:0007015, actin filament organization, 524 494 744 943 563 821 818 430 619 ENSG00000133048 chr1 203178931 203186749 - CHI3L1 protein_coding Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]. 1116 GO:0070062, GO:0048471, GO:0035580, GO:0031012, GO:0005783, GO:0005737, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, specific granule lumen, extracellular matrix, endoplasmic reticulum, cytoplasm, extracellular space, extracellular space, extracellular region, extracellular region, GO:0030246, GO:0008061, GO:0008061, GO:0005515, GO:0005201, GO:0004568, GO:0004568, carbohydrate binding, chitin binding, chitin binding, protein binding, extracellular matrix structural constituent, chitinase activity, chitinase activity, GO:0071356, GO:0071347, GO:0070741, GO:0070555, GO:0070374, GO:0051897, GO:0051216, GO:0045766, GO:0043312, GO:0034612, GO:0032637, GO:0030324, GO:0010800, GO:0009612, GO:0007250, GO:0006954, GO:0006915, GO:0006032, GO:0005975, cellular response to tumor necrosis factor, cellular response to interleukin-1, response to interleukin-6, response to interleukin-1, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, cartilage development, positive regulation of angiogenesis, neutrophil degranulation, response to tumor necrosis factor, interleukin-8 production, lung development, positive regulation of peptidyl-threonine phosphorylation, response to mechanical stimulus, activation of NF-kappaB-inducing kinase activity, inflammatory response, apoptotic process, chitin catabolic process, carbohydrate metabolic process, 2361 3566 1567 715 2124 555 1019 1907 534 ENSG00000133055 chr1 203167811 203175813 - MYBPH protein_coding 4608 GO:0032982, myosin filament, GO:0008307, GO:0005515, structural constituent of muscle, protein binding, GO:0007155, GO:0006942, cell adhesion, regulation of striated muscle contraction, 42 36 33 51 81 38 60 45 66 ENSG00000133056 chr1 204422628 204494724 - PIK3C2B protein_coding The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]. 5287 GO:0043231, GO:0030139, GO:0016020, GO:0005942, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, endocytic vesicle, membrane, phosphatidylinositol 3-kinase complex, plasma membrane, plasma membrane, cytosol, cytosol, endoplasmic reticulum, cytoplasm, nucleoplasm, GO:0052742, GO:0035091, GO:0035005, GO:0035005, GO:0035005, GO:0016303, GO:0016303, GO:0005524, GO:0005515, GO:0001727, phosphatidylinositol kinase activity, phosphatidylinositol binding, 1-phosphatidylinositol-4-phosphate 3-kinase activity, 1-phosphatidylinositol-4-phosphate 3-kinase activity, 1-phosphatidylinositol-4-phosphate 3-kinase activity, 1-phosphatidylinositol-3-kinase activity, 1-phosphatidylinositol-3-kinase activity, ATP binding, protein binding, lipid kinase activity, GO:1905037, GO:0048015, GO:0046854, GO:0043491, GO:0036092, GO:0016477, GO:0014065, GO:0009267, GO:0008150, GO:0006661, autophagosome organization, phosphatidylinositol-mediated signaling, phosphatidylinositol phosphorylation, protein kinase B signaling, phosphatidylinositol-3-phosphate biosynthetic process, cell migration, phosphatidylinositol 3-kinase signaling, cellular response to starvation, biological_process, phosphatidylinositol biosynthetic process, 33 25 73 76 39 56 48 33 49 ENSG00000133059 chr1 205142505 205211566 - DSTYK protein_coding This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 25778 GO:0030054, GO:0016324, GO:0016323, GO:0005737, cell junction, apical plasma membrane, basolateral plasma membrane, cytoplasm, GO:0005524, GO:0004713, GO:0004712, GO:0004674, ATP binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, GO:0070374, GO:0045743, GO:0044344, GO:0043066, GO:0033674, GO:0018108, positive regulation of ERK1 and ERK2 cascade, positive regulation of fibroblast growth factor receptor signaling pathway, cellular response to fibroblast growth factor stimulus, negative regulation of apoptotic process, positive regulation of kinase activity, peptidyl-tyrosine phosphorylation, 286 383 292 189 320 297 277 195 248 ENSG00000133063 chr1 203212827 203273641 - CHIT1 protein_coding Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]. 1118 GO:1904724, GO:0035580, GO:0005764, GO:0005615, GO:0005576, GO:0005576, tertiary granule lumen, specific granule lumen, lysosome, extracellular space, extracellular region, extracellular region, GO:0008843, GO:0008061, GO:0008061, GO:0004568, GO:0004568, GO:0004568, GO:0004553, endochitinase activity, chitin binding, chitin binding, chitinase activity, chitinase activity, chitinase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0044245, GO:0043312, GO:0009617, GO:0006955, GO:0006032, GO:0006032, GO:0006032, GO:0000272, polysaccharide digestion, neutrophil degranulation, response to bacterium, immune response, chitin catabolic process, chitin catabolic process, chitin catabolic process, polysaccharide catabolic process, 64 60 106 30 62 83 51 93 62 ENSG00000133065 chr1 205789093 205813748 - SLC41A1 protein_coding 254428 GO:0032991, GO:0016323, GO:0016021, GO:0005886, GO:0005886, GO:0005886, protein-containing complex, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0072509, GO:0061768, GO:0022857, GO:0022857, GO:0015095, GO:0005515, divalent inorganic cation transmembrane transporter activity, magnesium:sodium antiporter activity, transmembrane transporter activity, transmembrane transporter activity, magnesium ion transmembrane transporter activity, protein binding, GO:1903830, GO:1903830, GO:0071286, GO:0071286, GO:0070838, GO:0035725, GO:0015693, GO:0015693, GO:0010961, magnesium ion transmembrane transport, magnesium ion transmembrane transport, cellular response to magnesium ion, cellular response to magnesium ion, divalent metal ion transport, sodium ion transmembrane transport, magnesium ion transport, magnesium ion transport, cellular magnesium ion homeostasis, 30 17 73 79 18 98 48 10 56 ENSG00000133067 chr1 202193901 202319781 + LGR6 protein_coding This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 59352 GO:0032588, GO:0031982, GO:0005887, GO:0005886, trans-Golgi network membrane, vesicle, integral component of plasma membrane, plasma membrane, GO:0048495, GO:0016500, GO:0008201, GO:0005515, GO:0004930, GO:0004888, Roundabout binding, protein-hormone receptor activity, heparin binding, protein binding, G protein-coupled receptor activity, transmembrane signaling receptor activity, GO:1990523, GO:0090263, GO:0050919, GO:0030335, GO:0030177, GO:0016055, GO:0007411, GO:0007186, bone regeneration, positive regulation of canonical Wnt signaling pathway, negative chemotaxis, positive regulation of cell migration, positive regulation of Wnt signaling pathway, Wnt signaling pathway, axon guidance, G protein-coupled receptor signaling pathway, 9 5 13 12 8 25 19 15 36 ENSG00000133069 chr1 205228176 205285632 + TMCC2 protein_coding 9911 GO:0016021, GO:0012505, GO:0005789, GO:0005783, integral component of membrane, endomembrane system, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0042982, GO:0042982, amyloid precursor protein metabolic process, amyloid precursor protein metabolic process, 2 7 12 9 16 26 2 6 7 ENSG00000133083 chr13 35768652 36131306 - DCLK1 protein_coding This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]. 9201 GO:0014069, GO:0005887, postsynaptic density, integral component of plasma membrane, GO:0106311, GO:0106310, GO:0005524, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein kinase activity, GO:1900181, GO:0048813, GO:0048812, GO:0048675, GO:0035556, GO:0030900, GO:0021952, GO:0018105, GO:0016197, GO:0009615, GO:0007417, GO:0007399, GO:0006468, GO:0001764, negative regulation of protein localization to nucleus, dendrite morphogenesis, neuron projection morphogenesis, axon extension, intracellular signal transduction, forebrain development, central nervous system projection neuron axonogenesis, peptidyl-serine phosphorylation, endosomal transport, response to virus, central nervous system development, nervous system development, protein phosphorylation, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000133101 chr13 36431520 36442882 + CCNA1 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8900 GO:0097124, GO:0097124, GO:0097123, GO:0015630, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000307, cyclin A2-CDK2 complex, cyclin A2-CDK2 complex, cyclin A1-CDK2 complex, microtubule cytoskeleton, cytosol, cytoplasm, nucleoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0051301, GO:0044772, GO:0016579, GO:0007283, GO:0007141, GO:0000083, GO:0000079, cell division, mitotic cell cycle phase transition, protein deubiquitination, spermatogenesis, male meiosis I, regulation of transcription involved in G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 4 1 1 2 0 0 1 4 1 ENSG00000133103 chr13 39655627 39791665 + COG6 protein_coding This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]. 57511 GO:0032588, GO:0017119, GO:0017119, GO:0000139, trans-Golgi network membrane, Golgi transport complex, Golgi transport complex, Golgi membrane, GO:0005515, protein binding, GO:0070085, GO:0015031, GO:0006891, GO:0006888, glycosylation, protein transport, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 32 26 46 46 34 57 48 23 53 ENSG00000133104 chr13 36301638 36370180 - SPART protein_coding This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]. 23111 GO:0045202, GO:0030496, GO:0005886, GO:0005886, GO:0005829, GO:0005811, GO:0005741, GO:0005737, synapse, midbody, plasma membrane, plasma membrane, cytosol, lipid droplet, mitochondrial outer membrane, cytoplasm, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0060612, GO:0051881, GO:0051301, GO:0051301, GO:0050905, GO:0048698, GO:0034389, GO:0030514, GO:0009838, adipose tissue development, regulation of mitochondrial membrane potential, cell division, cell division, neuromuscular process, negative regulation of collateral sprouting in absence of injury, lipid droplet organization, negative regulation of BMP signaling pathway, abscission, 1110 778 1183 681 749 720 733 551 443 ENSG00000133105 chr13 31739542 31803388 + RXFP2 protein_coding This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 122042 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0017046, GO:0016500, GO:0008528, peptide hormone binding, protein-hormone receptor activity, G protein-coupled peptide receptor activity, GO:0043950, GO:0043066, GO:0009755, GO:0008584, GO:0008285, GO:0007193, GO:0007190, GO:0007189, GO:0007186, GO:0001556, positive regulation of cAMP-mediated signaling, negative regulation of apoptotic process, hormone-mediated signaling pathway, male gonad development, negative regulation of cell population proliferation, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, oocyte maturation, 0 1 0 0 0 0 1 0 2 ENSG00000133106 chr13 42886388 42992271 - EPSTI1 protein_coding The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016]. 94240 121 43 143 99 63 108 74 36 126 ENSG00000133107 chr13 37636636 37870425 - TRPC4 protein_coding This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. 7223 GO:0034704, GO:0034703, GO:0030863, GO:0016323, GO:0009986, GO:0005911, GO:0005901, GO:0005887, GO:0005886, GO:0005886, calcium channel complex, cation channel complex, cortical cytoskeleton, basolateral plasma membrane, cell surface, cell-cell junction, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0070679, GO:0045296, GO:0015279, GO:0015279, GO:0008013, GO:0005515, inositol 1,4,5 trisphosphate binding, cadherin binding, store-operated calcium channel activity, store-operated calcium channel activity, beta-catenin binding, protein binding, GO:0070588, GO:0070588, GO:0070509, GO:0051480, GO:0048709, GO:0014051, GO:0006828, GO:0006816, calcium ion transmembrane transport, calcium ion transmembrane transport, calcium ion import, regulation of cytosolic calcium ion concentration, oligodendrocyte differentiation, gamma-aminobutyric acid secretion, manganese ion transport, calcium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000133110 chr13 37562583 37598844 - POSTN protein_coding This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. 10631 GO:0062023, GO:0062023, GO:0062023, GO:0031594, GO:0031012, GO:0031012, GO:0005802, GO:0005615, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, neuromuscular junction, extracellular matrix, extracellular matrix, trans-Golgi network, extracellular space, GO:0050839, GO:0046872, GO:0008201, GO:0005515, GO:0005201, cell adhesion molecule binding, metal ion binding, heparin binding, protein binding, extracellular matrix structural constituent, GO:1990523, GO:1990138, GO:1900025, GO:0071560, GO:0071356, GO:0071307, GO:0044344, GO:0042060, GO:0032355, GO:0030198, GO:0014911, GO:0014850, GO:0009612, GO:0008593, GO:0007155, GO:0007155, GO:0003073, GO:0001953, GO:0001666, bone regeneration, neuron projection extension, negative regulation of substrate adhesion-dependent cell spreading, cellular response to transforming growth factor beta stimulus, cellular response to tumor necrosis factor, cellular response to vitamin K, cellular response to fibroblast growth factor stimulus, wound healing, response to estradiol, extracellular matrix organization, positive regulation of smooth muscle cell migration, response to muscle activity, response to mechanical stimulus, regulation of Notch signaling pathway, cell adhesion, cell adhesion, regulation of systemic arterial blood pressure, negative regulation of cell-matrix adhesion, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000133111 chr13 36819224 36829104 + RFXAP protein_coding Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]. 5994 GO:0090575, GO:0016607, GO:0005634, RNA polymerase II transcription regulator complex, nuclear speck, nucleus, GO:0001228, GO:0000977, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 10 9 9 34 9 15 20 22 25 ENSG00000133112 chr13 45333471 45341370 - TPT1 protein_coding This gene encodes a protein that is a regulator of cellular growth and proliferation. Its mRNA is highly structured and contains an oligopyrimidine tract (5'-TOP) in its 5' untranslated region that functions to repress its translation under quiescent conditions. The encoded protein is involved in a variety of cellular pathways, including apoptosis, protein synthesis and cell division. It binds to and stabilizes microtubules, and removal of this protein through phosphorylation is required for progression through mitotic and meiotic cell divisions. This gene is known to play a role in carcinogenesis, and is upregulated in some cancer cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]. 7178 GO:0070062, GO:0005881, GO:0005829, GO:0005771, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0000922, extracellular exosome, cytoplasmic microtubule, cytosol, multivesicular body, cytoplasm, cytoplasm, cytoplasm, nucleus, extracellular space, spindle pole, GO:0005515, GO:0005509, GO:0005509, GO:0003723, protein binding, calcium ion binding, calcium ion binding, RNA binding, GO:1902230, GO:0043066, GO:0042981, GO:0009615, GO:0006874, GO:0006816, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of apoptotic process, regulation of apoptotic process, response to virus, cellular calcium ion homeostasis, calcium ion transport, 13786 13724 19382 28598 32884 32051 23969 23026 22908 ENSG00000133114 chr13 44989529 45037669 + GPALPP1 protein_coding 55425 121 88 119 491 305 493 362 297 337 ENSG00000133115 chr13 38965925 38991066 - STOML3 protein_coding 161003 GO:0045121, GO:0016021, GO:0005929, GO:0005886, GO:0005886, GO:0005575, membrane raft, integral component of membrane, cilium, plasma membrane, plasma membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0034220, GO:0008150, GO:0007165, ion transmembrane transport, biological_process, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000133116 chr13 33016433 33066145 + KL protein_coding This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]. 9365 GO:0070062, GO:0016324, GO:0005887, GO:0005886, GO:0005783, GO:0005576, extracellular exosome, apical plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, extracellular region, GO:0017134, GO:0017134, GO:0008422, GO:0005499, GO:0005179, GO:0005104, GO:0004566, fibroblast growth factor binding, fibroblast growth factor binding, beta-glucosidase activity, vitamin D binding, hormone activity, fibroblast growth factor receptor binding, beta-glucuronidase activity, GO:0090080, GO:0055074, GO:0051897, GO:0030501, GO:0008543, GO:0008543, GO:0008286, GO:0007568, GO:0006112, GO:0005975, GO:0000165, positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway, calcium ion homeostasis, positive regulation of protein kinase B signaling, positive regulation of bone mineralization, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, insulin receptor signaling pathway, aging, energy reserve metabolic process, carbohydrate metabolic process, MAPK cascade, 1 0 2 0 2 1 0 1 2 ENSG00000133119 chr13 33818049 33966558 + RFC3 protein_coding The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 5983 GO:0031390, GO:0005663, GO:0005663, GO:0005663, GO:0005654, GO:0005634, Ctf18 RFC-like complex, DNA replication factor C complex, DNA replication factor C complex, DNA replication factor C complex, nucleoplasm, nucleus, GO:0017116, GO:0016887, GO:0005515, GO:0003689, GO:0003689, GO:0003689, GO:0003677, single-stranded DNA helicase activity, ATPase activity, protein binding, DNA clamp loader activity, DNA clamp loader activity, DNA clamp loader activity, DNA binding, GO:1901796, GO:1900264, GO:0070987, GO:0046683, GO:0042769, GO:0042276, GO:0033683, GO:0032508, GO:0032201, GO:0019985, GO:0006297, GO:0006296, GO:0006283, GO:0006281, GO:0006271, GO:0006261, GO:0006260, GO:0006260, GO:0000731, regulation of signal transduction by p53 class mediator, positive regulation of DNA-directed DNA polymerase activity, error-free translesion synthesis, response to organophosphorus, DNA damage response, detection of DNA damage, error-prone translesion synthesis, nucleotide-excision repair, DNA incision, DNA duplex unwinding, telomere maintenance via semi-conservative replication, translesion synthesis, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA repair, DNA strand elongation involved in DNA replication, DNA-dependent DNA replication, DNA replication, DNA replication, DNA synthesis involved in DNA repair, 52 28 55 28 7 49 26 22 17 ENSG00000133121 chr13 33103135 33350630 - STARD13 protein_coding This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 90627 GO:0031966, GO:0005829, GO:0005811, mitochondrial membrane, cytosol, lipid droplet, GO:0008289, GO:0005515, GO:0005096, lipid binding, protein binding, GTPase activator activity, GO:0097498, GO:0097498, GO:0090051, GO:0090051, GO:0051056, GO:0043547, GO:0043542, GO:0043542, GO:0035023, GO:0030036, GO:0007165, endothelial tube lumen extension, endothelial tube lumen extension, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, endothelial cell migration, endothelial cell migration, regulation of Rho protein signal transduction, actin cytoskeleton organization, signal transduction, 2 0 0 0 0 0 0 0 0 ENSG00000133124 chrX 108732482 108736409 - IRS4 protein_coding IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008]. 8471 GO:0005886, GO:0005886, GO:0005829, plasma membrane, plasma membrane, cytosol, GO:0043548, GO:0005515, GO:0005158, phosphatidylinositol 3-kinase binding, protein binding, insulin receptor binding, GO:0008286, GO:0007165, insulin receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000133131 chrX 106813871 107000244 - MORC4 protein_coding In human, the four current members of the microrchidia (morc) gene family share an N-terminal ATPase-like ATP-binding region and a CW four-cysteine zinc-finger motif. The protein encoded by this gene also has a nuclear matrix binding domain and a two-stranded coiled-coil motif near its C-terminus. This gene is widely expressed at low levels in normal tissues and has elevated expression in placenta and testis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]. 79710 GO:0005654, nucleoplasm, GO:0035064, GO:0008270, GO:0005515, methylated histone binding, zinc ion binding, protein binding, 13 7 20 24 11 47 31 5 17 ENSG00000133134 chrX 103309346 103311046 - BEX2 protein_coding This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 84707 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0051726, GO:0042981, GO:0042981, GO:0007165, GO:0007049, GO:0006915, regulation of cell cycle, regulation of apoptotic process, regulation of apoptotic process, signal transduction, cell cycle, apoptotic process, 5 3 17 69 8 56 38 12 46 ENSG00000133135 chrX 106693794 106796993 + RNF128 protein_coding The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 79589 GO:0048471, GO:0016021, GO:0005856, GO:0005829, GO:0005794, GO:0005783, GO:0005770, GO:0005737, perinuclear region of cytoplasm, integral component of membrane, cytoskeleton, cytosol, Golgi apparatus, endoplasmic reticulum, late endosome, cytoplasm, GO:0061630, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:1904352, GO:0061462, GO:0031647, GO:0016579, GO:0016567, GO:0006511, GO:0006511, GO:0001818, positive regulation of protein catabolic process in the vacuole, protein localization to lysosome, regulation of protein stability, protein deubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, negative regulation of cytokine production, 0 3 0 0 0 0 0 0 0 ENSG00000133136 chrX 110346703 110346909 - GNG5P2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000133138 chrX 106802680 106876145 + TBC1D8B protein_coding This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 54885 GO:0005829, cytosol, GO:0031267, GO:0005515, GO:0005509, GO:0005096, small GTPase binding, protein binding, calcium ion binding, GTPase activator activity, GO:0090630, GO:0016192, GO:0006886, GO:0003094, activation of GTPase activity, vesicle-mediated transport, intracellular protein transport, glomerular filtration, 1 2 2 1 0 0 5 2 6 ENSG00000133142 chrX 103576231 103587736 + TCEAL4 protein_coding This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. This family is comprised of nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternatively splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 13. [provided by RefSeq, Apr 2015]. 79921 GO:0005634, nucleus, GO:0050699, GO:0005515, WW domain binding, protein binding, 3 9 15 47 48 83 44 40 45 ENSG00000133169 chrX 103062651 103064240 - BEX1 protein_coding 55859 GO:0005737, GO:0005667, GO:0005634, cytoplasm, transcription regulator complex, nucleus, GO:0005515, GO:0005102, GO:0001102, protein binding, signaling receptor binding, RNA polymerase II activating transcription factor binding, GO:0051091, GO:0045944, GO:0030154, GO:0007399, GO:0007165, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, cell differentiation, nervous system development, signal transduction, 6 3 4 47 64 61 58 50 21 ENSG00000133193 chr17 73207353 73236753 - FAM104A protein_coding 84923 GO:0005515, protein binding, 483 516 471 244 435 371 288 354 280 ENSG00000133195 chr17 72645949 73092712 - SLC39A11 protein_coding 201266 GO:0016021, GO:0016020, GO:0005886, GO:0005794, GO:0005737, GO:0005634, integral component of membrane, membrane, plasma membrane, Golgi apparatus, cytoplasm, nucleus, GO:0005385, GO:0005385, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0071577, zinc ion transmembrane transport, 18 54 31 28 47 40 27 29 6 ENSG00000133216 chr1 22710839 22921500 + EPHB2 protein_coding This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]. 2048 GO:0098794, GO:0043235, GO:0043025, GO:0043005, GO:0030425, GO:0030424, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005654, GO:0005576, postsynapse, receptor complex, neuronal cell body, neuron projection, dendrite, axon, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, extracellular region, GO:0044877, GO:0042802, GO:0008046, GO:0005524, GO:0005515, GO:0005102, GO:0005005, GO:0005005, GO:0005005, GO:0004714, GO:0004713, GO:0001540, GO:0001540, protein-containing complex binding, identical protein binding, axon guidance receptor activity, ATP binding, protein binding, signaling receptor binding, transmembrane-ephrin receptor activity, transmembrane-ephrin receptor activity, transmembrane-ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, amyloid-beta binding, amyloid-beta binding, GO:1904783, GO:1904782, GO:1903078, GO:1900273, GO:0106028, GO:0099557, GO:0071679, GO:0070373, GO:0060997, GO:0060996, GO:0060021, GO:0051965, GO:0051389, GO:0050878, GO:0050771, GO:0048593, GO:0048170, GO:0048168, GO:0048013, GO:0048013, GO:0046580, GO:0042472, GO:0033674, GO:0031915, GO:0031290, GO:0030193, GO:0022038, GO:0021952, GO:0021631, GO:0018108, GO:0016310, GO:0010628, GO:0007612, GO:0007611, GO:0007413, GO:0007411, GO:0007411, GO:0007399, GO:0007275, GO:0007169, GO:0001933, GO:0001655, GO:0001525, positive regulation of NMDA glutamate receptor activity, negative regulation of NMDA glutamate receptor activity, positive regulation of protein localization to plasma membrane, positive regulation of long-term synaptic potentiation, neuron projection retraction, trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission, commissural neuron axon guidance, negative regulation of ERK1 and ERK2 cascade, dendritic spine morphogenesis, dendritic spine development, roof of mouth development, positive regulation of synapse assembly, inactivation of MAPKK activity, regulation of body fluid levels, negative regulation of axonogenesis, camera-type eye morphogenesis, positive regulation of long-term neuronal synaptic plasticity, regulation of neuronal synaptic plasticity, ephrin receptor signaling pathway, ephrin receptor signaling pathway, negative regulation of Ras protein signal transduction, inner ear morphogenesis, positive regulation of kinase activity, positive regulation of synaptic plasticity, retinal ganglion cell axon guidance, regulation of blood coagulation, corpus callosum development, central nervous system projection neuron axonogenesis, optic nerve morphogenesis, peptidyl-tyrosine phosphorylation, phosphorylation, positive regulation of gene expression, learning, learning or memory, axonal fasciculation, axon guidance, axon guidance, nervous system development, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, negative regulation of protein phosphorylation, urogenital system development, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000133226 chr1 24631716 24673267 + SRRM1 protein_coding 10250 GO:0071013, GO:0016607, GO:0016363, GO:0005829, GO:0005654, GO:0005634, catalytic step 2 spliceosome, nuclear speck, nuclear matrix, cytosol, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003677, protein binding, RNA binding, DNA binding, GO:0031124, GO:0008380, GO:0006406, GO:0006405, GO:0000398, GO:0000398, GO:0000375, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 976 1021 1438 674 806 981 808 665 756 ENSG00000133243 chr19 1985438 2034881 - BTBD2 protein_coding The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]. 55643 GO:0005829, GO:0000932, GO:0000932, cytosol, P-body, P-body, GO:0005515, protein binding, GO:0022008, neurogenesis, 532 514 811 405 451 587 490 357 472 ENSG00000133246 chr19 8490056 8503112 - PRAM1 protein_coding The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008]. 84106 GO:0032991, GO:0005886, protein-containing complex, plasma membrane, GO:0019901, GO:0008289, GO:0005515, protein kinase binding, lipid binding, protein binding, GO:0072659, GO:0050852, GO:0043313, GO:0007229, protein localization to plasma membrane, T cell receptor signaling pathway, regulation of neutrophil degranulation, integrin-mediated signaling pathway, 890 999 1346 469 842 934 709 705 793 ENSG00000133247 chr19 55339853 55348120 + KMT5C protein_coding SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]. 84787 GO:0005721, GO:0005654, GO:0005654, GO:0005634, GO:0000792, GO:0000779, pericentric heterochromatin, nucleoplasm, nucleoplasm, nucleus, heterochromatin, condensed chromosome, centromeric region, GO:1904047, GO:0046872, GO:0042799, GO:0042799, GO:0042799, GO:0042393, GO:0005515, GO:0003682, S-adenosyl-L-methionine binding, metal ion binding, histone methyltransferase activity (H4-K20 specific), histone methyltransferase activity (H4-K20 specific), histone methyltransferase activity (H4-K20 specific), histone binding, protein binding, chromatin binding, GO:2001034, GO:0045830, GO:0034773, GO:0006281, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of isotype switching, histone H4-K20 trimethylation, DNA repair, 149 187 198 167 219 159 192 112 182 ENSG00000133250 chr19 8509678 8514164 - ZNF414 protein_coding 84330 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003677, GO:0000981, metal ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 100 139 149 347 411 447 255 185 349 ENSG00000133256 chr4 625584 670782 + PDE6B protein_coding Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]. 5158 GO:0097381, GO:0042622, GO:0005886, photoreceptor disc membrane, photoreceptor outer segment membrane, plasma membrane, GO:0047555, GO:0046872, GO:0004114, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0060041, GO:0043153, GO:0022400, GO:0016056, GO:0007603, GO:0007601, GO:0007223, GO:0007165, retina development in camera-type eye, entrainment of circadian clock by photoperiod, regulation of rhodopsin mediated signaling pathway, rhodopsin mediated signaling pathway, phototransduction, visible light, visual perception, Wnt signaling pathway, calcium modulating pathway, signal transduction, 10 4 3 16 10 9 15 3 17 ENSG00000133265 chr19 55262231 55280381 - HSPBP1 protein_coding 23640 GO:0005783, endoplasmic reticulum, GO:0031625, GO:0005515, GO:0004857, GO:0000774, ubiquitin protein ligase binding, protein binding, enzyme inhibitor activity, adenyl-nucleotide exchange factor activity, GO:0043086, GO:0032436, GO:0031398, GO:0006457, negative regulation of catalytic activity, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein ubiquitination, protein folding, 6 5 16 28 11 30 14 6 24 ENSG00000133275 chr19 1941149 1981338 + CSNK1G2 protein_coding 1455 GO:0016020, GO:0005886, GO:0005829, GO:0005737, GO:0005634, membrane, plasma membrane, cytosol, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0090263, GO:0046777, GO:0030148, GO:0018105, GO:0018105, GO:0016055, GO:0007165, GO:0006897, GO:0006468, positive regulation of canonical Wnt signaling pathway, protein autophosphorylation, sphingolipid biosynthetic process, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, signal transduction, endocytosis, protein phosphorylation, 3682 3445 3881 3274 3644 3000 3308 2844 2559 ENSG00000133302 chr5 94618347 94739436 + SLF1 protein_coding 84250 GO:0042405, GO:0035861, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0000786, nuclear inclusion body, site of double-strand break, centrosome, cytoplasm, nucleoplasm, nucleus, nucleosome, GO:0044877, GO:0031625, GO:0005515, protein-containing complex binding, ubiquitin protein ligase binding, protein binding, GO:2000781, GO:1990166, GO:0034184, GO:0031334, GO:0006974, GO:0006281, positive regulation of double-strand break repair, protein localization to site of double-strand break, positive regulation of maintenance of mitotic sister chromatid cohesion, positive regulation of protein-containing complex assembly, cellular response to DNA damage stimulus, DNA repair, 160 125 177 110 167 123 178 136 182 ENSG00000133313 chr18 74495816 74523454 + CNDP2 protein_coding CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]. 55748 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005654, extracellular exosome, cytosol, cytosol, cytosol, nucleoplasm, GO:0103046, GO:0102008, GO:0070573, GO:0046872, GO:0016805, GO:0008233, GO:0004180, alanylglutamate dipeptidase activity, cytosolic dipeptidase activity, metallodipeptidase activity, metal ion binding, dipeptidase activity, peptidase activity, carboxypeptidase activity, GO:0006750, GO:0006508, glutathione biosynthetic process, proteolysis, 234 257 227 267 284 299 206 187 161 ENSG00000133315 chr11 63998558 64166106 - MACROD1 protein_coding 28992 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0140293, GO:0140293, GO:0019213, GO:0016798, GO:0005515, ADP-ribosylglutamate hydrolase activity, ADP-ribosylglutamate hydrolase activity, deacetylase activity, hydrolase activity, acting on glycosyl bonds, protein binding, GO:0140291, GO:0140291, GO:0051725, GO:0042278, GO:0042278, GO:0006974, GO:0006974, peptidyl-glutamate ADP-deribosylation, peptidyl-glutamate ADP-deribosylation, protein de-ADP-ribosylation, purine nucleoside metabolic process, purine nucleoside metabolic process, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, 2 5 2 12 0 4 5 3 6 ENSG00000133316 chr11 62832342 62841809 - WDR74 protein_coding 54663 GO:0030687, GO:0005730, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000176, preribosome, large subunit precursor, nucleolus, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleus, nucleus, nuclear exosome (RNase complex), GO:0005515, protein binding, GO:0042273, GO:0042273, GO:0016070, GO:0006364, GO:0001825, ribosomal large subunit biogenesis, ribosomal large subunit biogenesis, RNA metabolic process, rRNA processing, blastocyst formation, 88 153 132 194 355 235 196 269 240 ENSG00000133317 chr11 63506084 63516774 + LGALS12 protein_coding This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]. 85329 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0030395, GO:0030395, GO:0030246, GO:0005178, lactose binding, lactose binding, carbohydrate binding, integrin binding, GO:1904977, GO:0097193, GO:0097193, GO:0050994, GO:0045598, lymphatic endothelial cell migration, intrinsic apoptotic signaling pathway, intrinsic apoptotic signaling pathway, regulation of lipid catabolic process, regulation of fat cell differentiation, 50 175 242 5 21 6 4 7 12 ENSG00000133318 chr11 63681446 63759891 + RTN3 protein_coding This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012]. 10313 GO:0045202, GO:0016021, GO:0005886, GO:0005789, GO:0005783, GO:0005615, GO:0000139, synapse, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, extracellular space, Golgi membrane, GO:0005515, protein binding, GO:0071787, GO:0071786, GO:0016192, GO:0016032, GO:0006915, endoplasmic reticulum tubular network formation, endoplasmic reticulum tubular network organization, vesicle-mediated transport, viral process, apoptotic process, 6536 6373 7704 1538 3655 2512 2378 3535 2629 ENSG00000133321 chr11 63536809 63546462 + RARRES3 protein_coding Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008]. 5920 GO:0016021, GO:0016020, GO:0005829, GO:0005737, integral component of membrane, membrane, cytosol, cytoplasm, GO:0102568, GO:0102567, GO:0052740, GO:0052739, GO:0016410, GO:0016410, GO:0008970, GO:0008970, GO:0005515, GO:0004623, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, N-acyltransferase activity, N-acyltransferase activity, phospholipase A1 activity, phospholipase A1 activity, protein binding, phospholipase A2 activity, phospholipase A2 activity, GO:0150074, GO:0070292, GO:0070292, GO:0045618, GO:0036152, GO:0016042, GO:0008285, GO:0006644, positive regulation of protein-glutamine gamma-glutamyltransferase activity, N-acylphosphatidylethanolamine metabolic process, N-acylphosphatidylethanolamine metabolic process, positive regulation of keratinocyte differentiation, phosphatidylethanolamine acyl-chain remodeling, lipid catabolic process, negative regulation of cell population proliferation, phospholipid metabolic process, 82 53 139 141 107 186 147 76 149 ENSG00000133328 chr11 63552770 63563383 - HRASLS2 protein_coding The protein encoded by this gene has both phospholipase and acyltransferase activities and acts as a tumor suppressor. The encoded protein can hydrolyze dipalmitoylated phosphatidylcholine (PC) to palmitic acid and lyso-PC. In addition, this protein can catalyze the N-acylation of phosphatidylethanolamine and can catalyze the O-acylation of lyso-PC to form PC. [provided by RefSeq, Jul 2016]. 54979 GO:0016021, GO:0005829, GO:0005737, integral component of membrane, cytosol, cytoplasm, GO:0102568, GO:0102567, GO:0052740, GO:0052739, GO:0016410, GO:0016410, GO:0008970, GO:0008970, GO:0005515, GO:0004623, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, N-acyltransferase activity, N-acyltransferase activity, phospholipase A1 activity, phospholipase A1 activity, protein binding, phospholipase A2 activity, phospholipase A2 activity, GO:0070292, GO:0070292, GO:0036152, GO:0016042, N-acylphosphatidylethanolamine metabolic process, N-acylphosphatidylethanolamine metabolic process, phosphatidylethanolamine acyl-chain remodeling, lipid catabolic process, 0 0 12 2 13 23 0 4 13 ENSG00000133392 chr16 15703172 15857033 - MYH11 protein_coding The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 4629 GO:0070062, GO:0042470, GO:0032982, GO:0005859, GO:0005829, extracellular exosome, melanosome, myosin filament, muscle myosin complex, cytosol, GO:0051015, GO:0008307, GO:0005524, GO:0005516, GO:0005515, GO:0003774, actin filament binding, structural constituent of muscle, ATP binding, calmodulin binding, protein binding, motor activity, GO:0048739, GO:0048251, GO:0030241, GO:0006939, GO:0006936, cardiac muscle fiber development, elastic fiber assembly, skeletal muscle myosin thick filament assembly, smooth muscle contraction, muscle contraction, 2 0 0 0 0 0 1 0 0 ENSG00000133393 chr16 15865720 15888625 - FOPNL protein_coding 123811 GO:0036064, GO:0036064, GO:0034451, GO:0031514, GO:0031514, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005654, ciliary basal body, ciliary basal body, centriolar satellite, motile cilium, motile cilium, centriole, centrosome, centrosome, cytoplasm, nucleoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0060271, GO:0060271, GO:0034453, cilium assembly, cilium assembly, microtubule anchoring, 8 1 1 4 6 2 0 9 0 ENSG00000133398 chr5 6371881 6378594 - MED10 protein_coding MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]. 84246 GO:0016592, GO:0005654, GO:0005654, GO:0000151, mediator complex, nucleoplasm, nucleoplasm, ubiquitin ligase complex, GO:0061630, GO:0005515, GO:0003712, ubiquitin protein ligase activity, protein binding, transcription coregulator activity, GO:0045944, GO:0019827, GO:0016567, GO:0006367, positive regulation of transcription by RNA polymerase II, stem cell population maintenance, protein ubiquitination, transcription initiation from RNA polymerase II promoter, 75 94 90 102 71 81 61 78 80 ENSG00000133401 chr5 31639410 32110931 + PDZD2 protein_coding The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]. 23037 GO:0005911, GO:0005783, GO:0005737, GO:0005634, GO:0005576, cell-cell junction, endoplasmic reticulum, cytoplasm, nucleus, extracellular region, GO:0007155, cell adhesion, 11 18 16 20 20 24 22 15 14 ENSG00000133422 chr22 30925130 30968298 - MORC2 protein_coding This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]. 22880 GO:0016363, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000792, nuclear matrix, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, heterochromatin, GO:0042803, GO:0016887, GO:0008270, GO:0005524, GO:0005515, GO:0003682, GO:0000287, protein homodimerization activity, ATPase activity, zinc ion binding, ATP binding, protein binding, chromatin binding, magnesium ion binding, GO:0090309, GO:0045869, GO:0045869, GO:0045814, GO:0006974, GO:0006631, GO:0006338, positive regulation of DNA methylation-dependent heterochromatin assembly, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of gene expression, epigenetic, cellular response to DNA damage stimulus, fatty acid metabolic process, chromatin remodeling, 73 77 87 99 110 152 104 100 109 ENSG00000133424 chr22 33162226 33922841 - LARGE1 protein_coding This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]. 9215 GO:0030173, GO:0005794, GO:0005794, GO:0000139, integral component of Golgi membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0042285, GO:0042285, GO:0035252, GO:0030145, GO:0016757, GO:0015020, GO:0015020, GO:0015020, GO:0008375, xylosyltransferase activity, xylosyltransferase activity, UDP-xylosyltransferase activity, manganese ion binding, transferase activity, transferring glycosyl groups, glucuronosyltransferase activity, glucuronosyltransferase activity, glucuronosyltransferase activity, acetylglucosaminyltransferase activity, GO:0060538, GO:0046716, GO:0043403, GO:0035269, GO:0035269, GO:0009101, GO:0006688, GO:0006493, GO:0006486, GO:0006044, skeletal muscle organ development, muscle cell cellular homeostasis, skeletal muscle tissue regeneration, protein O-linked mannosylation, protein O-linked mannosylation, glycoprotein biosynthetic process, glycosphingolipid biosynthetic process, protein O-linked glycosylation, protein glycosylation, N-acetylglucosamine metabolic process, 1 5 1 8 9 1 2 8 1 ENSG00000133433 chr22 23957414 23961186 - GSTT2B protein_coding The protein encoded by this gene, glutathione S-transferase (GST) theta 2B (GSTT2B), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2B gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]. 653689 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005654, extracellular exosome, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0004364, GO:0004364, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0006749, glutathione derivative biosynthetic process, glutathione metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000133454 chr22 25742144 26031041 + MYO18B protein_coding The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]. 84700 GO:0031941, GO:0030018, GO:0016461, GO:0005634, filamentous actin, Z disc, unconventional myosin complex, nucleus, GO:0005524, GO:0003779, GO:0003774, ATP binding, actin binding, motor activity, GO:0048739, GO:0001701, GO:0001570, cardiac muscle fiber development, in utero embryonic development, vasculogenesis, 0 0 0 0 1 0 1 0 0 ENSG00000133460 chr22 23856703 23886309 + SLC2A11 protein_coding This gene belongs to a family of proteins that mediate the transport of sugars across the cell membrane. The encoded protein transports glucose and fructose. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 66035 GO:0030054, GO:0016021, GO:0005886, GO:0005886, GO:0005654, cell junction, integral component of membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0005355, glucose transmembrane transporter activity, GO:1904659, GO:0008645, glucose transmembrane transport, hexose transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000133466 chr22 37180167 37199385 - C1QTNF6 protein_coding 114904 GO:0005615, GO:0005581, extracellular space, collagen trimer, GO:0042802, GO:0005515, identical protein binding, protein binding, 33 58 87 58 48 91 77 44 67 ENSG00000133475 chr22 21207973 21227637 - GGT2 protein_coding GGT2 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]. 728441 GO:0070062, GO:0048471, GO:0005886, GO:0005783, extracellular exosome, perinuclear region of cytoplasm, plasma membrane, endoplasmic reticulum, GO:0036374, GO:0000048, glutathione hydrolase activity, peptidyltransferase activity, GO:1901750, GO:0050727, GO:0034612, GO:0032496, GO:0032355, GO:0031638, GO:0031179, GO:0007283, GO:0006751, GO:0006412, GO:0002682, leukotriene D4 biosynthetic process, regulation of inflammatory response, response to tumor necrosis factor, response to lipopolysaccharide, response to estradiol, zymogen activation, peptide modification, spermatogenesis, glutathione catabolic process, translation, regulation of immune system process, 1 1 0 0 0 0 0 3 1 ENSG00000133477 chr22 39994949 40043529 + FAM83F protein_coding 113828 GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0007165, signal transduction, 3 0 1 6 7 11 2 3 4 ENSG00000133488 chr22 30488913 30505711 - SEC14L4 protein_coding The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]. 284904 GO:0008289, GO:0005515, lipid binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000133519 chr22 23390606 23402726 - ZDHHC8P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000133561 chr7 150625375 150632648 - GIMAP6 protein_coding This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011]. 474344 GO:0005829, GO:0005829, cytosol, cytosol, GO:0005525, GTP binding, 95 95 209 152 78 209 139 69 131 ENSG00000133574 chr7 150567277 150573955 + GIMAP4 protein_coding This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]. 55303 GO:0005829, GO:0005829, cytosol, cytosol, GO:0005525, GTP binding, 1078 797 1210 562 809 823 653 793 810 ENSG00000133597 chr7 140673153 140696261 + ADCK2 protein_coding 90956 GO:0016021, integral component of membrane, GO:0005524, GO:0005515, GO:0004674, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0006468, protein phosphorylation, 13 12 32 23 28 50 48 20 22 ENSG00000133606 chr7 140453040 140479569 - MKRN1 protein_coding This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]. 23608 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0061630, GO:0061630, GO:0061630, GO:0046872, GO:0005515, GO:0003723, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, RNA binding, GO:0016567, GO:0000209, protein ubiquitination, protein polyubiquitination, 2826 2621 3313 1085 1806 1552 1146 1614 1479 ENSG00000133612 chr7 151085831 151144436 + AGAP3 protein_coding This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]. 116988 GO:0071944, GO:0016020, GO:0005737, GO:0005634, GO:0005634, cell periphery, membrane, cytoplasm, nucleus, nucleus, GO:0046872, GO:0031593, GO:0005525, GO:0005096, GO:0003924, metal ion binding, polyubiquitin modification-dependent protein binding, GTP binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0043161, GO:0043161, GO:0034614, GO:0007165, positive regulation of GTPase activity, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, cellular response to reactive oxygen species, signal transduction, 23 49 144 49 57 88 34 50 55 ENSG00000133619 chr7 149714781 149734575 + KRBA1 protein_coding 84626 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 28 28 35 23 65 53 21 30 19 ENSG00000133624 chr7 149547154 149624752 - ZNF767P transcribed_unprocessed_pseudogene 79970 108 145 152 169 168 252 218 146 173 ENSG00000133627 chr7 152759749 152855378 + ACTR3B protein_coding This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. 57180 GO:0070062, GO:0042995, GO:0005885, GO:0005737, extracellular exosome, cell projection, Arp2/3 protein complex, cytoplasm, GO:0051015, GO:0005524, GO:0003674, actin filament binding, ATP binding, molecular_function, GO:0034314, GO:0008150, Arp2/3 complex-mediated actin nucleation, biological_process, 26 11 13 31 19 13 30 13 11 ENSG00000133636 chr12 85874295 85882992 + NTS protein_coding This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014]. 4922 GO:0043679, GO:0030133, GO:0005576, axon terminus, transport vesicle, extracellular region, GO:0071855, GO:0048018, GO:0005515, GO:0005184, neuropeptide receptor binding, receptor ligand activity, protein binding, neuropeptide hormone activity, GO:0007218, GO:0007186, GO:0007165, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000133639 chr12 92140278 92145897 - BTG1 protein_coding This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]. 694 GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0019900, GO:0019899, GO:0005515, GO:0003712, kinase binding, enzyme binding, protein binding, transcription coregulator activity, GO:2000271, GO:0045930, GO:0045766, GO:0045663, GO:0045663, GO:0045603, GO:0043434, GO:0030308, GO:0016477, GO:0008285, GO:0008285, GO:0007283, GO:0006979, GO:0006479, GO:0006355, positive regulation of fibroblast apoptotic process, negative regulation of mitotic cell cycle, positive regulation of angiogenesis, positive regulation of myoblast differentiation, positive regulation of myoblast differentiation, positive regulation of endothelial cell differentiation, response to peptide hormone, negative regulation of cell growth, cell migration, negative regulation of cell population proliferation, negative regulation of cell population proliferation, spermatogenesis, response to oxidative stress, protein methylation, regulation of transcription, DNA-templated, 7248 7970 7268 4383 7391 6748 5349 6587 5906 ENSG00000133640 chr12 85036314 85264457 + LRRIQ1 protein_coding 84125 0 0 0 0 0 0 0 0 0 ENSG00000133641 chr12 88033846 88050160 + C12orf29 protein_coding 91298 GO:0002244, hematopoietic progenitor cell differentiation, 13 16 25 44 3 34 25 7 43 ENSG00000133657 chr3 194402672 194498364 - ATP13A3 protein_coding ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]. 79572 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0046872, GO:0016887, GO:0005524, metal ion binding, ATPase activity, ATP binding, GO:0006874, GO:0006812, cellular calcium ion homeostasis, cation transport, 765 755 1579 419 339 533 407 268 377 ENSG00000133661 chr10 79937740 79982614 - SFTPD protein_coding The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]. 6441 GO:0045334, GO:0030139, GO:0005791, GO:0005789, GO:0005771, GO:0005764, GO:0005615, GO:0005581, GO:0005576, clathrin-coated endocytic vesicle, endocytic vesicle, rough endoplasmic reticulum, endoplasmic reticulum membrane, multivesicular body, lysosome, extracellular space, collagen trimer, extracellular region, GO:0042802, GO:0030246, GO:0005515, identical protein binding, carbohydrate binding, protein binding, GO:1905226, GO:0072593, GO:0052405, GO:0050776, GO:0050766, GO:0050766, GO:0048286, GO:0048246, GO:0045087, GO:0044267, GO:0043152, GO:0043129, GO:0043129, GO:0042742, GO:0042130, GO:0032703, GO:0007585, GO:0006898, GO:0002224, GO:0001817, regulation of adhesion of symbiont to host epithelial cell, reactive oxygen species metabolic process, negative regulation by host of symbiont molecular function, regulation of immune response, positive regulation of phagocytosis, positive regulation of phagocytosis, lung alveolus development, macrophage chemotaxis, innate immune response, cellular protein metabolic process, induction of bacterial agglutination, surfactant homeostasis, surfactant homeostasis, defense response to bacterium, negative regulation of T cell proliferation, negative regulation of interleukin-2 production, respiratory gaseous exchange by respiratory system, receptor-mediated endocytosis, toll-like receptor signaling pathway, regulation of cytokine production, 1 0 0 0 2 0 1 0 0 ENSG00000133665 chr10 80344745 80368073 + DYDC2 protein_coding This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 84332 GO:0048188, GO:0044666, GO:0000781, Set1C/COMPASS complex, MLL3/4 complex, chromosome, telomeric region, GO:0005515, protein binding, GO:0051568, GO:0006348, histone H3-K4 methylation, chromatin silencing at telomere, 0 0 0 0 0 0 0 0 0 ENSG00000133678 chr10 80078646 80092557 + TMEM254 protein_coding 80195 GO:0016021, integral component of membrane, GO:0005515, protein binding, 6 11 20 27 12 20 15 9 35 ENSG00000133687 chr12 29500840 29784759 - TMTC1 protein_coding 83857 GO:0016021, GO:0005783, integral component of membrane, endoplasmic reticulum, GO:0004169, GO:0000030, dolichyl-phosphate-mannose-protein mannosyltransferase activity, mannosyltransferase activity, GO:0035269, GO:0006396, protein O-linked mannosylation, RNA processing, 20 18 207 15 26 99 10 16 74 ENSG00000133703 chr12 25204789 25250936 - KRAS protein_coding This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]. 3845 GO:0045121, GO:0031234, GO:0016020, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005739, GO:0005737, membrane raft, extrinsic component of cytoplasmic side of plasma membrane, membrane, focal adhesion, plasma membrane, plasma membrane, cytosol, mitochondrion, cytoplasm, GO:0044877, GO:0030275, GO:0019003, GO:0019002, GO:0005525, GO:0005515, GO:0003924, protein-containing complex binding, LRR domain binding, GDP binding, GMP binding, GTP binding, protein binding, GTPase activity, GO:2000774, GO:0060441, GO:0051385, GO:0051384, GO:0051146, GO:0051092, GO:0051000, GO:0048873, GO:0048169, GO:0045596, GO:0043524, GO:0043406, GO:0038002, GO:0035900, GO:0035022, GO:0032228, GO:0031647, GO:0030036, GO:0021897, GO:0019221, GO:0010628, GO:0008542, GO:0008284, GO:0007565, GO:0007265, GO:0007265, GO:0002223, GO:0001934, GO:0001889, GO:0000165, positive regulation of cellular senescence, epithelial tube branching involved in lung morphogenesis, response to mineralocorticoid, response to glucocorticoid, striated muscle cell differentiation, positive regulation of NF-kappaB transcription factor activity, positive regulation of nitric-oxide synthase activity, homeostasis of number of cells within a tissue, regulation of long-term neuronal synaptic plasticity, negative regulation of cell differentiation, negative regulation of neuron apoptotic process, positive regulation of MAP kinase activity, endocrine signaling, response to isolation stress, positive regulation of Rac protein signal transduction, regulation of synaptic transmission, GABAergic, regulation of protein stability, actin cytoskeleton organization, forebrain astrocyte development, cytokine-mediated signaling pathway, positive regulation of gene expression, visual learning, positive regulation of cell population proliferation, female pregnancy, Ras protein signal transduction, Ras protein signal transduction, stimulatory C-type lectin receptor signaling pathway, positive regulation of protein phosphorylation, liver development, MAPK cascade, 1676 1582 2725 422 915 903 577 761 842 ENSG00000133704 chr12 30628988 30695986 - IPO8 protein_coding The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 10526 GO:0005829, GO:0005829, GO:0005654, GO:0005635, cytosol, cytosol, nucleoplasm, nuclear envelope, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0060964, GO:0007165, GO:0006606, regulation of gene silencing by miRNA, signal transduction, protein import into nucleus, 431 408 407 262 246 269 260 219 226 ENSG00000133706 chr5 146113038 146182660 - LARS protein_coding This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]. 51520 GO:0017101, GO:0016604, GO:0012505, GO:0005829, GO:0005829, GO:0005783, GO:0005764, GO:0005737, aminoacyl-tRNA synthetase multienzyme complex, nuclear body, endomembrane system, cytosol, cytosol, endoplasmic reticulum, lysosome, cytoplasm, GO:0005524, GO:0005515, GO:0005096, GO:0004823, GO:0004823, GO:0004819, GO:0002161, ATP binding, protein binding, GTPase activator activity, leucine-tRNA ligase activity, leucine-tRNA ligase activity, glutamine-tRNA ligase activity, aminoacyl-tRNA editing activity, GO:1990253, GO:1904263, GO:0106074, GO:0071233, GO:0071230, GO:0043547, GO:0034198, GO:0032008, GO:0008361, GO:0006429, GO:0006425, GO:0006418, cellular response to leucine starvation, positive regulation of TORC1 signaling, aminoacyl-tRNA metabolism involved in translational fidelity, cellular response to leucine, cellular response to amino acid stimulus, positive regulation of GTPase activity, cellular response to amino acid starvation, positive regulation of TOR signaling, regulation of cell size, leucyl-tRNA aminoacylation, glutaminyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 63 57 133 222 100 246 163 88 170 ENSG00000133710 chr5 148025683 148137289 + SPINK5 protein_coding This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 11005 GO:0097209, GO:0048471, GO:0043231, GO:0005938, GO:0005829, GO:0005789, GO:0005783, GO:0005737, GO:0005576, GO:0005576, GO:0005576, epidermal lamellar body, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, cell cortex, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, extracellular region, extracellular region, extracellular region, GO:0004867, GO:0004867, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:1902572, GO:1900004, GO:0070268, GO:0051884, GO:0050777, GO:0045580, GO:0035315, GO:0030855, GO:0030198, GO:0030155, GO:0030154, GO:0016525, GO:0009913, GO:0007417, GO:0007275, GO:0002787, negative regulation of serine-type peptidase activity, negative regulation of serine-type endopeptidase activity, cornification, regulation of timing of anagen, negative regulation of immune response, regulation of T cell differentiation, hair cell differentiation, epithelial cell differentiation, extracellular matrix organization, regulation of cell adhesion, cell differentiation, negative regulation of angiogenesis, epidermal cell differentiation, central nervous system development, multicellular organism development, negative regulation of antibacterial peptide production, 0 0 0 0 0 0 0 0 0 ENSG00000133731 chr8 81657961 81686693 - IMPA1 protein_coding This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]. 3612 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0052834, GO:0052833, GO:0052832, GO:0042803, GO:0042802, GO:0031403, GO:0030145, GO:0008934, GO:0008934, GO:0008934, GO:0005515, GO:0000287, inositol monophosphate phosphatase activity, inositol monophosphate 4-phosphatase activity, inositol monophosphate 3-phosphatase activity, protein homodimerization activity, identical protein binding, lithium ion binding, manganese ion binding, inositol monophosphate 1-phosphatase activity, inositol monophosphate 1-phosphatase activity, inositol monophosphate 1-phosphatase activity, protein binding, magnesium ion binding, GO:0046855, GO:0046855, GO:0046854, GO:0043647, GO:0007165, GO:0007165, GO:0006796, GO:0006661, GO:0006021, GO:0006020, inositol phosphate dephosphorylation, inositol phosphate dephosphorylation, phosphatidylinositol phosphorylation, inositol phosphate metabolic process, signal transduction, signal transduction, phosphate-containing compound metabolic process, phosphatidylinositol biosynthetic process, inositol biosynthetic process, inositol metabolic process, 202 129 215 128 148 185 180 113 188 ENSG00000133739 chr8 85107147 85146076 + LRRCC1 protein_coding This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain. It associates with the centrosome throughout the cell cycle and accumulates on the mitotic centrosome. [provided by RefSeq, Mar 2017]. 85444 GO:0005814, GO:0005813, GO:0005813, GO:0005737, centriole, centrosome, centrosome, cytoplasm, GO:0051301, GO:0007049, cell division, cell cycle, 2 3 2 17 14 24 8 3 11 ENSG00000133740 chr8 85177225 85217158 + E2F5 protein_coding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 1875 GO:0090575, GO:0043231, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0001650, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, intracellular membrane-bounded organelle, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, fibrillar center, chromatin, chromatin, GO:0046983, GO:0008134, GO:0005515, GO:0001216, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, transcription factor binding, protein binding, DNA-binding transcription activator activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030030, GO:0009887, GO:0006357, positive regulation of transcription by RNA polymerase II, cell projection organization, animal organ morphogenesis, regulation of transcription by RNA polymerase II, 28 29 26 42 33 26 28 27 37 ENSG00000133742 chr8 85327608 85379014 - CA1 protein_coding Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 759 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0016836, GO:0016836, GO:0008270, GO:0005515, GO:0004089, GO:0004089, GO:0004064, hydro-lyase activity, hydro-lyase activity, zinc ion binding, protein binding, carbonate dehydratase activity, carbonate dehydratase activity, arylesterase activity, GO:0035722, GO:0015701, GO:0006730, interleukin-12-mediated signaling pathway, bicarbonate transport, one-carbon metabolic process, 0 0 0 0 0 0 6 0 0 ENSG00000133773 chr12 82223681 82358805 - CCDC59 protein_coding 29080 GO:0005654, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0044267, cellular protein metabolic process, 464 517 500 375 510 603 429 524 468 ENSG00000133789 chr11 9664077 9752991 + SWAP70 protein_coding 23075 GO:0030027, GO:0015629, GO:0005886, GO:0005737, GO:0005737, GO:0005634, lamellipodium, actin cytoskeleton, plasma membrane, cytoplasm, cytoplasm, nucleus, GO:0045296, GO:0005524, GO:0005515, GO:0005509, GO:0003677, cadherin binding, ATP binding, protein binding, calcium ion binding, DNA binding, GO:1902309, GO:0060754, GO:0051017, GO:0045190, GO:0033633, GO:0032880, GO:0032233, GO:0030835, GO:0007204, negative regulation of peptidyl-serine dephosphorylation, positive regulation of mast cell chemotaxis, actin filament bundle assembly, isotype switching, negative regulation of cell-cell adhesion mediated by integrin, regulation of protein localization, positive regulation of actin filament bundle assembly, negative regulation of actin filament depolymerization, positive regulation of cytosolic calcium ion concentration, 61 108 125 51 68 68 37 63 20 ENSG00000133794 chr11 13276652 13387266 + ARNTL protein_coding The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 406 GO:0043231, GO:0034751, GO:0033391, GO:0016605, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, aryl hydrocarbon receptor complex, chromatoid body, PML body, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0140297, GO:0070888, GO:0051879, GO:0046982, GO:0043565, GO:0043425, GO:0017162, GO:0005515, GO:0003677, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, DNA-binding transcription factor binding, E-box binding, Hsp90 protein binding, protein heterodimerization activity, sequence-specific DNA binding, bHLH transcription factor binding, aryl hydrocarbon receptor binding, protein binding, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001016, GO:2000772, GO:2000323, GO:2000074, GO:1901985, GO:0120163, GO:0090403, GO:0090263, GO:0060137, GO:0051775, GO:0051726, GO:0050796, GO:0050767, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045599, GO:0043161, GO:0042753, GO:0042634, GO:0042176, GO:0032922, GO:0032922, GO:0032007, GO:0007623, GO:0007623, GO:0007283, GO:0006606, GO:0006357, GO:0006355, positive regulation of skeletal muscle cell differentiation, regulation of cellular senescence, negative regulation of glucocorticoid receptor signaling pathway, regulation of type B pancreatic cell development, positive regulation of protein acetylation, negative regulation of cold-induced thermogenesis, oxidative stress-induced premature senescence, positive regulation of canonical Wnt signaling pathway, maternal process involved in parturition, response to redox state, regulation of cell cycle, regulation of insulin secretion, regulation of neurogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of fat cell differentiation, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of circadian rhythm, regulation of hair cycle, regulation of protein catabolic process, circadian regulation of gene expression, circadian regulation of gene expression, negative regulation of TOR signaling, circadian rhythm, circadian rhythm, spermatogenesis, protein import into nucleus, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1267 1017 1575 1067 1401 1590 1242 1004 1183 ENSG00000133800 chr11 10556966 10611689 - LYVE1 protein_coding This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]. 10894 GO:0070062, GO:0016020, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0005540, GO:0005515, GO:0004888, signaling receptor activity, hyaluronic acid binding, protein binding, transmembrane signaling receptor activity, GO:0030214, GO:0009653, GO:0009611, GO:0007160, hyaluronan catabolic process, anatomical structure morphogenesis, response to wounding, cell-matrix adhesion, 32 50 42 55 105 123 61 90 94 ENSG00000133805 chr11 10308313 10507579 + AMPD3 protein_coding This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]. 272 GO:1904813, GO:0034774, GO:0005829, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, secretory granule lumen, cytosol, cytosol, extracellular region, GO:0046872, GO:0005515, GO:0003876, metal ion binding, protein binding, AMP deaminase activity, GO:0097009, GO:0046039, GO:0046034, GO:0046033, GO:0046031, GO:0043312, GO:0043101, GO:0034101, GO:0032264, GO:0006196, GO:0006188, energy homeostasis, GTP metabolic process, ATP metabolic process, AMP metabolic process, ADP metabolic process, neutrophil degranulation, purine-containing compound salvage, erythrocyte homeostasis, IMP salvage, AMP catabolic process, IMP biosynthetic process, 822 695 1161 585 723 937 707 570 809 ENSG00000133812 chr11 9778667 10294207 - SBF2 protein_coding This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]. 81846 GO:0048471, GO:0030424, GO:0016020, GO:0016020, GO:0010008, GO:0005829, GO:0005774, GO:0005737, perinuclear region of cytoplasm, axon, membrane, membrane, endosome membrane, cytosol, vacuolar membrane, cytoplasm, GO:0035091, GO:0019902, GO:0019208, GO:0005515, GO:0005085, GO:0005085, phosphatidylinositol binding, phosphatase binding, phosphatase regulator activity, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0043087, GO:0042552, GO:0006914, regulation of GTPase activity, myelination, autophagy, 1189 733 1820 680 729 985 879 579 900 ENSG00000133816 chr11 12094008 12359144 + MICAL2 protein_coding The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]. 9645 GO:0005634, nucleus, GO:0071949, GO:0046872, GO:0043914, GO:0016709, GO:0016491, GO:0016174, GO:0005515, GO:0003779, GO:0003779, FAD binding, metal ion binding, NADPH:sulfur oxidoreductase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, NAD(P)H oxidase H2O2-forming activity, protein binding, actin binding, actin binding, GO:0055114, GO:0055114, GO:0030042, GO:0030042, GO:0019417, GO:0010735, GO:0007507, GO:0007010, GO:0001947, oxidation-reduction process, oxidation-reduction process, actin filament depolymerization, actin filament depolymerization, sulfur oxidation, positive regulation of transcription via serum response element binding, heart development, cytoskeleton organization, heart looping, 3381 3908 3551 2016 3201 2138 2550 2717 2013 ENSG00000133818 chr11 14277926 14364506 - RRAS2 protein_coding This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. 22800 GO:0070062, GO:0016020, GO:0005925, GO:0005886, GO:0005783, GO:0000139, extracellular exosome, membrane, focal adhesion, plasma membrane, endoplasmic reticulum, Golgi membrane, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GO:1901214, GO:0030335, GO:0007265, GO:0001649, regulation of neuron death, positive regulation of cell migration, Ras protein signal transduction, osteoblast differentiation, 14 16 24 25 23 58 33 29 40 ENSG00000133835 chr5 119452443 119637199 + HSD17B4 protein_coding The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]. 3295 GO:0016020, GO:0005829, GO:0005782, GO:0005778, GO:0005777, GO:0005777, GO:0005777, membrane, cytosol, peroxisomal matrix, peroxisomal membrane, peroxisome, peroxisome, peroxisome, GO:0044594, GO:0044594, GO:0042803, GO:0033989, GO:0016853, GO:0016508, GO:0004300, GO:0004300, GO:0003857, GO:0003857, 17-beta-hydroxysteroid dehydrogenase (NAD+) activity, 17-beta-hydroxysteroid dehydrogenase (NAD+) activity, protein homodimerization activity, 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity, isomerase activity, long-chain-enoyl-CoA hydratase activity, enoyl-CoA hydratase activity, enoyl-CoA hydratase activity, 3-hydroxyacyl-CoA dehydrogenase activity, 3-hydroxyacyl-CoA dehydrogenase activity, GO:0060009, GO:0036112, GO:0036111, GO:0036109, GO:0033540, GO:0008210, GO:0008209, GO:0006699, GO:0006635, GO:0006635, GO:0006625, GO:0001649, GO:0000038, Sertoli cell development, medium-chain fatty-acyl-CoA metabolic process, very long-chain fatty-acyl-CoA metabolic process, alpha-linolenic acid metabolic process, fatty acid beta-oxidation using acyl-CoA oxidase, estrogen metabolic process, androgen metabolic process, bile acid biosynthetic process, fatty acid beta-oxidation, fatty acid beta-oxidation, protein targeting to peroxisome, osteoblast differentiation, very long-chain fatty acid metabolic process, 138 163 199 114 171 187 70 130 96 ENSG00000133858 chr12 71609472 71667725 - ZFC3H1 protein_coding 196441 GO:0005730, GO:0005634, GO:0005634, GO:0005615, GO:0000178, GO:0000178, nucleolus, nucleus, nucleus, extracellular space, exosome (RNase complex), exosome (RNase complex), GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0006396, RNA processing, 2045 2173 2874 1408 1875 2682 2023 1629 2308 ENSG00000133863 chr8 30831544 30913003 - TEX15 protein_coding This gene encodes a protein that is required for DNA double-strand break repair, chromosome synapsis, and meiotic recombination in spermatocytes. Male mice with a knockout of the orthologous gene are viable but sterile. Loss-of-function mutations in the orthologous mouse gene cause early meiotic arrest in spermatocytes, before the mid-pachytene stage. Naturally occurring mutations in this gene are associated with nonobstructive azoospermia. [provided by RefSeq, Apr 2017]. 56154 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0030154, GO:0010569, GO:0007283, GO:0007140, GO:0007129, GO:0006281, cell differentiation, regulation of double-strand break repair via homologous recombination, spermatogenesis, male meiotic nuclear division, homologous chromosome pairing at meiosis, DNA repair, 0 0 0 0 0 0 0 0 0 ENSG00000133872 chr8 30063012 30083208 - SARAF protein_coding 51669 GO:0140268, GO:0030176, GO:0005783, endoplasmic reticulum-plasma membrane contact site, integral component of endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:2001256, GO:0006816, regulation of store-operated calcium entry, calcium ion transport, 5558 5969 7128 2028 3342 2726 2281 3331 2373 ENSG00000133874 chr8 33547755 33567125 - RNF122 protein_coding The encoded protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and golgi apparatus, and may be associated with cell viability. [provided by RefSeq, Jul 2013]. 79845 GO:0016021, GO:0012505, GO:0005794, GO:0005783, GO:0005737, integral component of membrane, endomembrane system, Golgi apparatus, endoplasmic reticulum, cytoplasm, GO:0061630, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0051865, GO:0043161, GO:0043065, GO:0010917, protein autoubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of apoptotic process, negative regulation of mitochondrial membrane potential, 215 276 249 248 305 244 219 211 207 ENSG00000133878 chr8 33591332 33600106 - DUSP26 protein_coding This gene encodes a member of the tyrosine phosphatase family of proteins and exhibits dual specificity by dephosphorylating tyrosine as well as serine and threonine residues. This gene has been described as both a tumor suppressor and an oncogene depending on the cellular context. This protein may regulate neuronal proliferation and has been implicated in the progression of glioblastoma through its ability to dephosphorylate the p53 tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 78986 GO:0070062, GO:0005794, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0008138, GO:0005515, GO:0004725, GO:0004721, GO:0004647, GO:0004647, GO:0002039, GO:0001102, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, phosphoserine phosphatase activity, phosphoserine phosphatase activity, p53 binding, RNA polymerase II activating transcription factor binding, GO:1902310, GO:0070373, GO:0045785, GO:0044387, GO:0035335, GO:0006470, GO:0000122, positive regulation of peptidyl-serine dephosphorylation, negative regulation of ERK1 and ERK2 cascade, positive regulation of cell adhesion, negative regulation of protein kinase activity by regulation of protein phosphorylation, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000133884 chr11 65333754 65353249 + DPF2 protein_coding The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]. 5977 GO:0071565, GO:0043231, GO:0005829, GO:0005813, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, nBAF complex, intracellular membrane-bounded organelle, cytosol, centrosome, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0070577, GO:0062072, GO:0046872, GO:0042393, GO:0005515, GO:0003714, GO:0003712, lysine-acetylated histone binding, H3K9me3 modified histone binding, metal ion binding, histone binding, protein binding, transcription corepressor activity, transcription coregulator activity, GO:1905454, GO:0097190, GO:0045944, GO:0045892, GO:0007399, GO:0006915, GO:0006325, GO:0000122, negative regulation of myeloid progenitor cell differentiation, apoptotic signaling pathway, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, nervous system development, apoptotic process, chromatin organization, negative regulation of transcription by RNA polymerase II, 468 489 668 284 493 389 321 469 356 ENSG00000133895 chr11 64803510 64811294 - MEN1 protein_coding This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]. 4221 GO:0035097, GO:0035097, GO:0035097, GO:0032991, GO:0032154, GO:0016363, GO:0005829, GO:0005829, GO:0005788, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000781, histone methyltransferase complex, histone methyltransferase complex, histone methyltransferase complex, protein-containing complex, cleavage furrow, nuclear matrix, cytosol, cytosol, endoplasmic reticulum lumen, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromosome, telomeric region, GO:0070412, GO:0047485, GO:0030674, GO:0018024, GO:0018024, GO:0005515, GO:0003690, GO:0003682, GO:0000976, GO:0000976, GO:0000403, GO:0000403, GO:0000400, R-SMAD binding, protein N-terminus binding, protein-macromolecule adaptor activity, histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, protein binding, double-stranded DNA binding, chromatin binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, Y-form DNA binding, Y-form DNA binding, four-way junction DNA binding, GO:1904837, GO:1902807, GO:0071559, GO:0071375, GO:0071333, GO:0061469, GO:0051974, GO:0050680, GO:0046697, GO:0046329, GO:0045944, GO:0045892, GO:0045786, GO:0045786, GO:0045736, GO:0045668, GO:0044267, GO:0043687, GO:0043433, GO:0034968, GO:0032925, GO:0032092, GO:0030511, GO:0010812, GO:0010332, GO:0009411, GO:0008285, GO:0008285, GO:0007420, GO:0006974, GO:0006357, GO:0006281, GO:0003309, GO:0002076, GO:0001933, GO:0000278, GO:0000165, GO:0000122, beta-catenin-TCF complex assembly, negative regulation of cell cycle G1/S phase transition, response to transforming growth factor beta, cellular response to peptide hormone stimulus, cellular response to glucose stimulus, regulation of type B pancreatic cell proliferation, negative regulation of telomerase activity, negative regulation of epithelial cell proliferation, decidualization, negative regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of cell cycle, negative regulation of cell cycle, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of osteoblast differentiation, cellular protein metabolic process, post-translational protein modification, negative regulation of DNA-binding transcription factor activity, histone lysine methylation, regulation of activin receptor signaling pathway, positive regulation of protein binding, positive regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell-substrate adhesion, response to gamma radiation, response to UV, negative regulation of cell population proliferation, negative regulation of cell population proliferation, brain development, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, DNA repair, type B pancreatic cell differentiation, osteoblast development, negative regulation of protein phosphorylation, mitotic cell cycle, MAPK cascade, negative regulation of transcription by RNA polymerase II, 34 28 55 81 25 84 57 34 47 ENSG00000133935 chr14 75649791 75661189 - ERG28 protein_coding 11161 GO:0030133, GO:0016021, GO:0005789, GO:0005783, transport vesicle, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042802, GO:0030674, GO:0005515, GO:0003674, identical protein binding, protein-macromolecule adaptor activity, protein binding, molecular_function, GO:0016126, GO:0008150, sterol biosynthetic process, biological_process, 17 36 33 26 15 45 30 27 38 ENSG00000133937 chr14 94768216 94770230 - GSC protein_coding This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]. 145258 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:1990837, GO:0001227, GO:0001103, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II repressing transcription factor binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048704, GO:0048644, GO:0042474, GO:0030900, GO:0030178, GO:0023019, GO:0021904, GO:0014036, GO:0007369, GO:0006357, GO:0000122, embryonic skeletal system morphogenesis, muscle organ morphogenesis, middle ear morphogenesis, forebrain development, negative regulation of Wnt signaling pathway, signal transduction involved in regulation of gene expression, dorsal/ventral neural tube patterning, neural crest cell fate specification, gastrulation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 1 0 0 0 0 0 0 0 ENSG00000133943 chr14 91060333 91225632 + DGLUCY protein_coding 80017 GO:0005759, GO:0005575, mitochondrial matrix, cellular_component, GO:0047820, GO:0047820, GO:0005515, GO:0003674, D-glutamate cyclase activity, D-glutamate cyclase activity, protein binding, molecular_function, GO:0008150, GO:0006536, GO:0006536, biological_process, glutamate metabolic process, glutamate metabolic process, 2483 2515 3482 1571 2686 2599 1950 1998 2389 ENSG00000133958 chr14 93333219 93707876 + UNC79 protein_coding The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]. 57578 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0048149, GO:0035264, GO:0034220, behavioral response to ethanol, multicellular organism growth, ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000133961 chr14 73275107 73458617 - NUMB protein_coding The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 8650 GO:0098978, GO:0045177, GO:0030136, GO:0019897, GO:0016323, GO:0010008, GO:0005925, GO:0005905, GO:0005886, GO:0005769, GO:0005737, GO:0005634, glutamatergic synapse, apical part of cell, clathrin-coated vesicle, extrinsic component of plasma membrane, basolateral plasma membrane, endosome membrane, focal adhesion, clathrin-coated pit, plasma membrane, early endosome, cytoplasm, nucleus, GO:0045296, GO:0045296, GO:0045294, GO:0008013, GO:0005515, cadherin binding, cadherin binding, alpha-catenin binding, beta-catenin binding, protein binding, GO:1903077, GO:0099149, GO:0050769, GO:0034332, GO:0030335, GO:0030335, GO:0021849, GO:0021670, GO:0007409, negative regulation of protein localization to plasma membrane, regulation of postsynaptic neurotransmitter receptor internalization, positive regulation of neurogenesis, adherens junction organization, positive regulation of cell migration, positive regulation of cell migration, neuroblast division in subventricular zone, lateral ventricle development, axonogenesis, 7577 7590 8333 4095 6483 6096 5206 5277 5212 ENSG00000133962 chr14 91580696 91780707 - CATSPERB protein_coding 79820 GO:0036128, GO:0036128, GO:0005929, GO:0005886, CatSper complex, CatSper complex, cilium, plasma membrane, GO:0035036, GO:0032570, GO:0030154, GO:0007283, GO:0007275, sperm-egg recognition, response to progesterone, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000133980 chr14 74303069 74360008 + VRTN protein_coding 55237 GO:0000785, chromatin, GO:0043565, GO:0005515, GO:0004803, sequence-specific DNA binding, protein binding, transposase activity, GO:0006357, GO:0006313, regulation of transcription by RNA polymerase II, transposition, DNA-mediated, 0 0 0 0 0 0 0 0 0 ENSG00000133983 chr14 70325081 70359731 - COX16 protein_coding 51241 GO:0031305, GO:0031305, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0033617, GO:0033617, GO:0033617, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, 2 0 4 5 1 0 6 2 0 ENSG00000133985 chr14 70641787 70675360 + TTC9 protein_coding This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009]. 23508 GO:0060348, bone development, 375 516 217 106 331 90 139 322 137 ENSG00000133997 chr14 70581257 70600690 - MED6 protein_coding 10001 GO:0070847, GO:0016592, GO:0016592, GO:0016592, GO:0016020, GO:0005654, GO:0005654, GO:0005634, core mediator complex, mediator complex, mediator complex, mediator complex, membrane, nucleoplasm, nucleoplasm, nucleus, GO:0008134, GO:0005515, GO:0003713, GO:0003713, transcription factor binding, protein binding, transcription coactivator activity, transcription coactivator activity, GO:0045944, GO:0006367, GO:0006357, positive regulation of transcription by RNA polymerase II, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 188 196 156 95 185 132 108 156 81 ENSG00000134001 chr14 67359997 67386516 + EIF2S1 protein_coding The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]. 1965 GO:0097451, GO:0070062, GO:0044207, GO:0043614, GO:0033290, GO:0016020, GO:0010494, GO:0005851, GO:0005851, GO:0005850, GO:0005850, GO:0005844, GO:0005829, GO:0005829, GO:0005634, glial limiting end-foot, extracellular exosome, translation initiation ternary complex, multi-eIF complex, eukaryotic 48S preinitiation complex, membrane, cytoplasmic stress granule, eukaryotic translation initiation factor 2B complex, eukaryotic translation initiation factor 2B complex, eukaryotic translation initiation factor 2 complex, eukaryotic translation initiation factor 2 complex, polysome, cytosol, cytosol, nucleus, GO:0043022, GO:0043022, GO:0005515, GO:0003743, GO:0003743, GO:0003723, ribosome binding, ribosome binding, protein binding, translation initiation factor activity, translation initiation factor activity, RNA binding, GO:2000676, GO:1990737, GO:1905098, GO:1901216, GO:0055085, GO:0046777, GO:0036499, GO:0034976, GO:0034976, GO:0034644, GO:0034605, GO:0034599, GO:0034198, GO:0034063, GO:0032057, GO:0007568, GO:0006413, positive regulation of type B pancreatic cell apoptotic process, response to manganese-induced endoplasmic reticulum stress, negative regulation of guanyl-nucleotide exchange factor activity, positive regulation of neuron death, transmembrane transport, protein autophosphorylation, PERK-mediated unfolded protein response, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, cellular response to UV, cellular response to heat, cellular response to oxidative stress, cellular response to amino acid starvation, stress granule assembly, negative regulation of translational initiation in response to stress, aging, translational initiation, 69 70 103 147 93 152 105 70 112 ENSG00000134007 chr14 70522358 70535015 - ADAM20 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008]. 8748 GO:1990913, GO:0016021, GO:0009897, GO:0005886, GO:0005886, sperm head plasma membrane, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0046872, GO:0008237, GO:0004222, metal ion binding, metallopeptidase activity, metalloendopeptidase activity, GO:0008584, GO:0007339, GO:0007338, GO:0006508, male gonad development, binding of sperm to zona pellucida, single fertilization, proteolysis, 4 3 0 0 4 5 2 0 0 ENSG00000134013 chr8 23297189 23425328 - LOXL2 protein_coding This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]. 4017 GO:0062023, GO:0062023, GO:0016020, GO:0005783, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005604, GO:0000785, collagen-containing extracellular matrix, collagen-containing extracellular matrix, membrane, endoplasmic reticulum, nucleoplasm, nucleus, nucleus, extracellular space, extracellular space, basement membrane, chromatin, GO:0070492, GO:0009055, GO:0005515, GO:0005509, GO:0005507, GO:0005044, GO:0004720, GO:0004720, oligosaccharide binding, electron transfer activity, protein binding, calcium ion binding, copper ion binding, scavenger receptor activity, protein-lysine 6-oxidase activity, protein-lysine 6-oxidase activity, GO:1902455, GO:0070828, GO:0046688, GO:0045892, GO:0043542, GO:0032332, GO:0030199, GO:0030199, GO:0022900, GO:0018057, GO:0018057, GO:0010718, GO:0007568, GO:0007155, GO:0006897, GO:0006464, GO:0002040, GO:0001935, GO:0001837, GO:0001666, GO:0000122, negative regulation of stem cell population maintenance, heterochromatin organization, response to copper ion, negative regulation of transcription, DNA-templated, endothelial cell migration, positive regulation of chondrocyte differentiation, collagen fibril organization, collagen fibril organization, electron transport chain, peptidyl-lysine oxidation, peptidyl-lysine oxidation, positive regulation of epithelial to mesenchymal transition, aging, cell adhesion, endocytosis, cellular protein modification process, sprouting angiogenesis, endothelial cell proliferation, epithelial to mesenchymal transition, response to hypoxia, negative regulation of transcription by RNA polymerase II, 36 22 12 36 16 38 33 12 23 ENSG00000134014 chr8 28089673 28191156 + ELP3 protein_coding ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]. 55140 GO:0033588, GO:0033588, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005634, elongator holoenzyme complex, elongator holoenzyme complex, cytosol, cytoplasm, cytoplasm, nucleolus, nucleus, GO:0106261, GO:0051539, GO:0046872, GO:0016407, GO:0008607, GO:0008080, GO:0005515, GO:0000049, tRNA uridine(34) acetyltransferase activity, 4 iron, 4 sulfur cluster binding, metal ion binding, acetyltransferase activity, phosphorylase kinase regulator activity, N-acetyltransferase activity, protein binding, tRNA binding, GO:0045859, GO:0030335, GO:0007417, GO:0006357, GO:0002926, GO:0002926, GO:0002098, GO:0001764, regulation of protein kinase activity, positive regulation of cell migration, central nervous system development, regulation of transcription by RNA polymerase II, tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation, tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation, tRNA wobble uridine modification, neuron migration, 60 31 85 54 44 76 45 43 94 ENSG00000134020 chr8 22713251 23000000 - PEBP4 protein_coding The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]. 157310 GO:0070062, GO:0005764, extracellular exosome, lysosome, GO:0005515, protein binding, 2 2 3 0 0 3 0 0 2 ENSG00000134028 chr8 24384285 24406013 + ADAMDEC1 protein_coding This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]. 27299 GO:0062023, collagen-containing extracellular matrix, GO:0008270, GO:0004222, zinc ion binding, metalloendopeptidase activity, GO:0007162, GO:0006955, GO:0006508, negative regulation of cell adhesion, immune response, proteolysis, 2 1 3 4 1 4 0 4 0 ENSG00000134030 chr18 48539046 48863217 + CTIF protein_coding CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]. 9811 GO:0048471, GO:0005829, GO:0005829, perinuclear region of cytoplasm, cytosol, cytosol, GO:0008494, GO:0005515, GO:0003723, translation activator activity, protein binding, RNA binding, GO:0045727, GO:0006446, GO:0006446, GO:0000184, positive regulation of translation, regulation of translational initiation, regulation of translational initiation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 24 30 32 11 22 22 15 13 23 ENSG00000134042 chr18 50795120 50825402 - MRO protein_coding This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 83876 GO:0005730, nucleolus, 0 0 0 0 0 0 0 0 0 ENSG00000134046 chr18 54151601 54224788 - MBD2 protein_coding DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 8932 GO:0032991, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0070742, GO:0031492, GO:0019904, GO:0008327, GO:0008327, GO:0005515, GO:0003696, C2H2 zinc finger domain binding, nucleosomal DNA binding, protein domain specific binding, methyl-CpG binding, methyl-CpG binding, protein binding, satellite DNA binding, GO:0071407, GO:0048568, GO:0045892, GO:0044030, GO:0043044, GO:0042711, GO:0035563, GO:0032355, GO:0031667, GO:0009612, GO:0007568, GO:0007507, GO:0006346, GO:0000183, GO:0000122, cellular response to organic cyclic compound, embryonic organ development, negative regulation of transcription, DNA-templated, regulation of DNA methylation, ATP-dependent chromatin remodeling, maternal behavior, positive regulation of chromatin binding, response to estradiol, response to nutrient levels, response to mechanical stimulus, aging, heart development, DNA methylation-dependent heterochromatin assembly, rDNA heterochromatin assembly, negative regulation of transcription by RNA polymerase II, 1347 1031 1372 525 755 678 633 765 669 ENSG00000134049 chr18 47152834 47176374 - IER3IP1 protein_coding This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]. 51124 GO:0030173, GO:0030134, GO:0016020, GO:0005794, GO:0005789, GO:0005783, integral component of Golgi membrane, COPII-coated ER to Golgi transport vesicle, membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:2000269, GO:0006888, regulation of fibroblast apoptotic process, endoplasmic reticulum to Golgi vesicle-mediated transport, 12 3 9 22 12 25 17 14 17 ENSG00000134056 chr5 69217760 69230129 + MRPS36 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]. 92259 GO:0009353, GO:0005763, GO:0005743, GO:0005739, GO:0005739, mitochondrial oxoglutarate dehydrogenase complex, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0006412, GO:0006103, mitochondrial translational termination, mitochondrial translational elongation, translation, 2-oxoglutarate metabolic process, 56 81 98 18 49 71 41 61 60 ENSG00000134057 chr5 69167010 69178245 + CCNB1 protein_coding The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). The encoded protein is necessary for proper control of the G2/M transition phase of the cell cycle. [provided by RefSeq, Aug 2017]. 891 GO:0097125, GO:0097125, GO:0016020, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0005759, GO:0005759, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000942, GO:0000922, GO:0000307, cyclin B1-CDK1 complex, cyclin B1-CDK1 complex, membrane, cytosol, cytosol, centrosome, centrosome, mitochondrial matrix, mitochondrial matrix, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, condensed nuclear chromosome outer kinetochore, spindle pole, cyclin-dependent protein kinase holoenzyme complex, GO:0061575, GO:0044389, GO:0019901, GO:0016538, GO:0005515, GO:0005113, cyclin-dependent protein serine/threonine kinase activator activity, ubiquitin-like protein ligase binding, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, patched binding, GO:2000775, GO:1905448, GO:1901990, GO:0090266, GO:0071456, GO:0071407, GO:0071398, GO:0071283, GO:0065003, GO:0060623, GO:0060045, GO:0055015, GO:0051987, GO:0051726, GO:0051301, GO:0048565, GO:0048146, GO:0046680, GO:0045931, GO:0045737, GO:0044772, GO:0042493, GO:0042246, GO:0033129, GO:0031442, GO:0031145, GO:0010971, GO:0010629, GO:0009612, GO:0007283, GO:0007080, GO:0007080, GO:0007077, GO:0007052, GO:0006977, GO:0006367, GO:0001933, GO:0001701, GO:0001556, GO:0000086, GO:0000079, histone H3-S10 phosphorylation involved in chromosome condensation, positive regulation of mitochondrial ATP synthesis coupled electron transport, regulation of mitotic cell cycle phase transition, regulation of mitotic cell cycle spindle assembly checkpoint, cellular response to hypoxia, cellular response to organic cyclic compound, cellular response to fatty acid, cellular response to iron(III) ion, protein-containing complex assembly, regulation of chromosome condensation, positive regulation of cardiac muscle cell proliferation, ventricular cardiac muscle cell development, positive regulation of attachment of spindle microtubules to kinetochore, regulation of cell cycle, cell division, digestive tract development, positive regulation of fibroblast proliferation, response to DDT, positive regulation of mitotic cell cycle, positive regulation of cyclin-dependent protein serine/threonine kinase activity, mitotic cell cycle phase transition, response to drug, tissue regeneration, positive regulation of histone phosphorylation, positive regulation of mRNA 3'-end processing, anaphase-promoting complex-dependent catabolic process, positive regulation of G2/M transition of mitotic cell cycle, negative regulation of gene expression, response to mechanical stimulus, spermatogenesis, mitotic metaphase plate congression, mitotic metaphase plate congression, mitotic nuclear envelope disassembly, mitotic spindle organization, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, transcription initiation from RNA polymerase II promoter, negative regulation of protein phosphorylation, in utero embryonic development, oocyte maturation, G2/M transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 6 2 6 4 4 2 2 2 4 ENSG00000134058 chr5 69234795 69277430 + CDK7 protein_coding The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]. 1022 GO:0070985, GO:0070985, GO:0070516, GO:0048471, GO:0019907, GO:0019907, GO:0005737, GO:0005675, GO:0005654, GO:0005634, GO:0005634, GO:0000439, transcription factor TFIIK complex, transcription factor TFIIK complex, CAK-ERCC2 complex, perinuclear region of cytoplasm, cyclin-dependent protein kinase activating kinase holoenzyme complex, cyclin-dependent protein kinase activating kinase holoenzyme complex, cytoplasm, transcription factor TFIIH holo complex, nucleoplasm, nucleus, nucleus, transcription factor TFIIH core complex, GO:0016301, GO:0008353, GO:0008353, GO:0008094, GO:0008022, GO:0005524, GO:0005515, GO:0004693, GO:0004674, GO:0004672, kinase activity, RNA polymerase II CTD heptapeptide repeat kinase activity, RNA polymerase II CTD heptapeptide repeat kinase activity, DNA-dependent ATPase activity, protein C-terminus binding, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0070816, GO:0051301, GO:0050821, GO:0045944, GO:0042795, GO:0007050, GO:0006468, GO:0006370, GO:0006368, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006294, GO:0006283, GO:0000086, GO:0000082, GO:0000079, phosphorylation of RNA polymerase II C-terminal domain, cell division, protein stabilization, positive regulation of transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, cell cycle arrest, protein phosphorylation, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, nucleotide-excision repair, preincision complex assembly, transcription-coupled nucleotide-excision repair, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 73 21 59 39 8 43 1 65 2 ENSG00000134061 chr5 67179613 67196799 - CD180 protein_coding CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008]. 4064 GO:0031012, GO:0016021, GO:0005886, GO:0005615, extracellular matrix, integral component of membrane, plasma membrane, extracellular space, GO:0005515, protein binding, GO:0071222, GO:0045087, GO:0031666, GO:0031666, GO:0006954, GO:0002322, cellular response to lipopolysaccharide, innate immune response, positive regulation of lipopolysaccharide-mediated signaling pathway, positive regulation of lipopolysaccharide-mediated signaling pathway, inflammatory response, B cell proliferation involved in immune response, 4 11 1 1 4 5 6 4 2 ENSG00000134070 chr3 10164865 10243743 + IRAK2 protein_coding IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]. 3656 GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005634, endosome membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleus, GO:0046982, GO:0042803, GO:0005524, GO:0005515, protein heterodimerization activity, protein homodimerization activity, ATP binding, protein binding, GO:0070555, GO:0070498, GO:0070498, GO:0070498, GO:0070423, GO:0051092, GO:0051092, GO:0051092, GO:0035556, GO:0034162, GO:0032088, GO:0031663, GO:0019221, GO:0007254, GO:0007249, GO:0006954, GO:0006468, GO:0002755, GO:0002224, GO:0001959, GO:0000187, response to interleukin-1, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, intracellular signal transduction, toll-like receptor 9 signaling pathway, negative regulation of NF-kappaB transcription factor activity, lipopolysaccharide-mediated signaling pathway, cytokine-mediated signaling pathway, JNK cascade, I-kappaB kinase/NF-kappaB signaling, inflammatory response, protein phosphorylation, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of cytokine-mediated signaling pathway, activation of MAPK activity, 143 93 475 59 57 112 32 43 39 ENSG00000134072 chr3 9757342 9769992 - CAMK1 protein_coding Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]. 8536 GO:0098978, GO:0014069, GO:0005829, GO:0005634, GO:0005622, glutamatergic synapse, postsynaptic density, cytosol, nucleus, intracellular anatomical structure, GO:0005524, GO:0005516, GO:0005515, GO:0004683, GO:0004683, ATP binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, calmodulin-dependent protein kinase activity, GO:2000615, GO:1901985, GO:0071902, GO:0060999, GO:0060143, GO:0051835, GO:0051149, GO:0051147, GO:0046827, GO:0045944, GO:0043393, GO:0033138, GO:0032880, GO:0032091, GO:0018105, GO:0010976, GO:0007165, GO:0007049, GO:0006913, GO:0006468, regulation of histone H3-K9 acetylation, positive regulation of protein acetylation, positive regulation of protein serine/threonine kinase activity, positive regulation of dendritic spine development, positive regulation of syncytium formation by plasma membrane fusion, positive regulation of synapse structural plasticity, positive regulation of muscle cell differentiation, regulation of muscle cell differentiation, positive regulation of protein export from nucleus, positive regulation of transcription by RNA polymerase II, regulation of protein binding, positive regulation of peptidyl-serine phosphorylation, regulation of protein localization, negative regulation of protein binding, peptidyl-serine phosphorylation, positive regulation of neuron projection development, signal transduction, cell cycle, nucleocytoplasmic transport, protein phosphorylation, 56 79 95 38 38 48 33 48 23 ENSG00000134077 chr3 9362842 9386791 + THUMPD3 protein_coding 25917 GO:0005829, GO:0005730, cytosol, nucleolus, GO:0016423, GO:0005515, GO:0003723, tRNA (guanine) methyltransferase activity, protein binding, RNA binding, GO:0030488, tRNA methylation, 149 133 247 153 108 318 167 67 179 ENSG00000134086 chr3 10141008 10152220 + VHL protein_coding Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 7428 GO:0016020, GO:0005829, GO:0005783, GO:0005739, GO:0005654, GO:0005654, GO:0005634, membrane, cytosol, endoplasmic reticulum, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:1990756, GO:0019899, GO:0008134, GO:0005515, GO:0004842, ubiquitin ligase-substrate adaptor activity, enzyme binding, transcription factor binding, protein binding, ubiquitin-protein transferase activity, GO:0061428, GO:0061418, GO:0050821, GO:0046426, GO:0045893, GO:0045597, GO:0043687, GO:0043066, GO:0016567, GO:0016567, GO:0016567, GO:0016567, GO:0010629, GO:0008285, GO:0006508, GO:0006355, GO:0000902, GO:0000122, negative regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of transcription from RNA polymerase II promoter in response to hypoxia, protein stabilization, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription, DNA-templated, positive regulation of cell differentiation, post-translational protein modification, negative regulation of apoptotic process, protein ubiquitination, protein ubiquitination, protein ubiquitination, protein ubiquitination, negative regulation of gene expression, negative regulation of cell population proliferation, proteolysis, regulation of transcription, DNA-templated, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 580 568 992 265 439 487 381 337 406 ENSG00000134107 chr3 4979116 4985323 + BHLHE40 protein_coding This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]. 8553 GO:0016604, GO:0005737, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nuclear body, cytoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0070888, GO:0046982, GO:0043426, GO:0043425, GO:0042803, GO:0019904, GO:0005515, GO:0003700, GO:0001227, GO:0001102, GO:0000981, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, protein heterodimerization activity, MRF binding, bHLH transcription factor binding, protein homodimerization activity, protein domain specific binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050767, GO:0045892, GO:0045892, GO:0043433, GO:0043153, GO:0042752, GO:0032922, GO:0032922, GO:0009952, GO:0007623, GO:0006357, GO:0006355, GO:0000122, regulation of neurogenesis, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, entrainment of circadian clock by photoperiod, regulation of circadian rhythm, circadian regulation of gene expression, circadian regulation of gene expression, anterior/posterior pattern specification, circadian rhythm, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 2551 4062 3320 3034 3301 2778 3540 3032 2483 ENSG00000134108 chr3 5122220 5180912 + ARL8B protein_coding 55207 GO:1904115, GO:0070062, GO:0051233, GO:0045202, GO:0031902, GO:0030496, GO:0016020, GO:0005774, GO:0005765, GO:0005737, axon cytoplasm, extracellular exosome, spindle midzone, synapse, late endosome membrane, midbody, membrane, vacuolar membrane, lysosomal membrane, cytoplasm, GO:0048487, GO:0043014, GO:0019003, GO:0005525, GO:0005515, GO:0003924, beta-tubulin binding, alpha-tubulin binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:0051301, GO:0032418, GO:0016197, GO:0015031, GO:0008089, GO:0007059, GO:0007049, cell division, lysosome localization, endosomal transport, protein transport, anterograde axonal transport, chromosome segregation, cell cycle, 341 338 333 308 390 306 300 309 229 ENSG00000134109 chr3 5187646 5219957 + EDEM1 protein_coding 9695 GO:0044322, GO:0044322, GO:0030176, GO:0016235, GO:0005783, GO:0005783, endoplasmic reticulum quality control compartment, endoplasmic reticulum quality control compartment, integral component of endoplasmic reticulum membrane, aggresome, endoplasmic reticulum, endoplasmic reticulum, GO:0051787, GO:0051787, GO:0005515, GO:0005509, GO:0004571, GO:0004571, misfolded protein binding, misfolded protein binding, protein binding, calcium ion binding, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, GO:1904382, GO:1904382, GO:1904154, GO:1904154, GO:0097466, GO:0045047, GO:0036510, GO:0036498, GO:0030433, GO:0005975, mannose trimming involved in glycoprotein ERAD pathway, mannose trimming involved in glycoprotein ERAD pathway, positive regulation of retrograde protein transport, ER to cytosol, positive regulation of retrograde protein transport, ER to cytosol, ubiquitin-dependent glycoprotein ERAD pathway, protein targeting to ER, trimming of terminal mannose on C branch, IRE1-mediated unfolded protein response, ubiquitin-dependent ERAD pathway, carbohydrate metabolic process, 1605 1474 2321 809 1008 1184 960 744 1168 ENSG00000134115 chr3 1092576 1404217 + CNTN6 protein_coding The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 27255 GO:0031225, GO:0030424, GO:0005886, anchored component of membrane, axon, plasma membrane, GO:0098632, GO:0005112, cell-cell adhesion mediator activity, Notch binding, GO:0070593, GO:0045747, GO:0007417, GO:0007411, GO:0007219, GO:0007156, GO:0007155, dendrite self-avoidance, positive regulation of Notch signaling pathway, central nervous system development, axon guidance, Notch signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000134121 chr3 196596 409417 + CHL1 protein_coding The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]. 10752 GO:0070062, GO:0045177, GO:0030425, GO:0016021, GO:0005886, extracellular exosome, apical part of cell, dendrite, integral component of membrane, plasma membrane, GO:0002020, protease binding, GO:0050890, GO:0043524, GO:0035640, GO:0008344, GO:0007411, GO:0007165, GO:0007155, GO:0001764, cognition, negative regulation of neuron apoptotic process, exploration behavior, adult locomotory behavior, axon guidance, signal transduction, cell adhesion, neuron migration, 0 0 2 0 0 1 0 0 0 ENSG00000134138 chr15 36889204 37101299 - MEIS2 protein_coding This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 4212 GO:0048471, GO:0000785, GO:0000785, perinuclear region of cytoplasm, chromatin, chromatin, GO:1990837, GO:0008134, GO:0005515, GO:0003677, GO:0001228, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, transcription factor binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0110024, GO:0070848, GO:0045944, GO:0045944, GO:0045931, GO:0045638, GO:0031016, GO:0009887, GO:0009880, GO:0009612, GO:0008542, GO:0008284, GO:0007420, GO:0006357, GO:0001654, GO:0000122, positive regulation of cardiac muscle myoblast proliferation, response to growth factor, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, negative regulation of myeloid cell differentiation, pancreas development, animal organ morphogenesis, embryonic pattern specification, response to mechanical stimulus, visual learning, positive regulation of cell population proliferation, brain development, regulation of transcription by RNA polymerase II, eye development, negative regulation of transcription by RNA polymerase II, 0 0 3 0 0 0 0 0 0 ENSG00000134146 chr15 35217345 35546193 - DPH6 protein_coding 89978 GO:0005829, GO:0005730, GO:0005654, cytosol, nucleolus, nucleoplasm, GO:0017178, GO:0017178, GO:0017178, GO:0005524, diphthine-ammonia ligase activity, diphthine-ammonia ligase activity, diphthine-ammonia ligase activity, ATP binding, GO:0017183, GO:0017183, GO:0017183, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, 5 4 7 23 4 22 5 1 15 ENSG00000134152 chr15 34140674 34210096 - KATNBL1 protein_coding 79768 GO:0097431, GO:0072686, GO:0032154, GO:0030496, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005634, mitotic spindle pole, mitotic spindle, cleavage furrow, midbody, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0051495, positive regulation of cytoskeleton organization, 2133 2622 3950 8664 8503 10002 8284 5359 6094 ENSG00000134153 chr15 34084017 34101948 - EMC7 protein_coding 56851 GO:0072546, GO:0072546, GO:0016021, GO:0016021, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, integral component of membrane, integral component of membrane, GO:0030246, GO:0005515, carbohydrate binding, protein binding, GO:0008150, biological_process, 236 199 293 97 142 114 92 151 110 ENSG00000134160 chr15 31001061 31161273 - TRPM1 protein_coding This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]. 4308 GO:0035841, GO:0005887, GO:0005886, new growing cell tip, integral component of plasma membrane, plasma membrane, GO:0005262, GO:0005262, GO:0005261, calcium channel activity, calcium channel activity, cation channel activity, GO:0098655, GO:0071482, GO:0070838, GO:0070588, GO:0060402, GO:0060402, GO:0051262, GO:0046548, GO:0007601, GO:0007216, cation transmembrane transport, cellular response to light stimulus, divalent metal ion transport, calcium ion transmembrane transport, calcium ion transport into cytosol, calcium ion transport into cytosol, protein tetramerization, retinal rod cell development, visual perception, G protein-coupled glutamate receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000134183 chr1 109603267 109619929 - GNAT2 protein_coding Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]. 2780 GO:0042622, GO:0005886, GO:0005834, GO:0005834, GO:0001917, GO:0001917, GO:0001750, GO:0001750, GO:0001750, photoreceptor outer segment membrane, plasma membrane, heterotrimeric G-protein complex, heterotrimeric G-protein complex, photoreceptor inner segment, photoreceptor inner segment, photoreceptor outer segment, photoreceptor outer segment, photoreceptor outer segment, GO:0046872, GO:0031683, GO:0008020, GO:0005525, GO:0003924, GO:0001664, metal ion binding, G-protein beta/gamma-subunit complex binding, G protein-coupled photoreceptor activity, GTP binding, GTPase activity, G protein-coupled receptor binding, GO:0050908, GO:0046549, GO:0009642, GO:0007602, GO:0007601, GO:0007223, GO:0007204, GO:0007188, GO:0007186, GO:0006457, GO:0001580, detection of light stimulus involved in visual perception, retinal cone cell development, response to light intensity, phototransduction, visual perception, Wnt signaling pathway, calcium modulating pathway, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, protein folding, detection of chemical stimulus involved in sensory perception of bitter taste, 343 422 446 130 288 245 170 217 135 ENSG00000134184 chr1 109687814 109709039 + GSTM1 protein_coding Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]. 2944 GO:0045171, GO:0005829, GO:0005829, GO:0005737, intercellular bridge, cytosol, cytosol, cytoplasm, GO:0043295, GO:0042803, GO:0019899, GO:0004364, GO:0004364, glutathione binding, protein homodimerization activity, enzyme binding, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:1901687, GO:0070458, GO:0051122, GO:0042178, GO:0018916, GO:0006749, GO:0006749, GO:0006693, glutathione derivative biosynthetic process, glutathione derivative biosynthetic process, cellular detoxification of nitrogen compound, hepoxilin biosynthetic process, xenobiotic catabolic process, nitrobenzene metabolic process, glutathione metabolic process, glutathione metabolic process, prostaglandin metabolic process, 0 7 14 0 8 11 0 6 10 ENSG00000134186 chr1 108692323 108701803 + PRPF38B protein_coding 55119 GO:0071011, precatalytic spliceosome, GO:0003723, RNA binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 1848 1877 2398 1490 1555 1995 1643 1313 1452 ENSG00000134193 chr1 119794018 119811660 - REG4 protein_coding 83998 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:2001065, GO:2001065, GO:0038023, GO:0008201, GO:0005509, mannan binding, mannan binding, signaling receptor activity, heparin binding, calcium ion binding, GO:0009617, response to bacterium, 1 1 0 2 0 0 2 0 0 ENSG00000134198 chr1 115048011 115089500 - TSPAN2 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 10100 GO:0043209, GO:0016021, GO:0005887, GO:0005654, myelin sheath, integral component of membrane, integral component of plasma membrane, nucleoplasm, GO:0005515, protein binding, GO:0061564, GO:0048709, GO:0042552, GO:0014005, GO:0014002, GO:0007420, GO:0006954, axon development, oligodendrocyte differentiation, myelination, microglia development, astrocyte development, brain development, inflammatory response, 1679 1606 1284 395 777 508 640 788 467 ENSG00000134200 chr1 115029824 115034309 + TSHB protein_coding The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]. 7252 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0005179, hormone activity, GO:0051592, GO:0043627, GO:0033189, GO:0016486, GO:0009755, GO:0009653, GO:0007267, GO:0007186, GO:0007186, response to calcium ion, response to estrogen, response to vitamin A, peptide hormone processing, hormone-mediated signaling pathway, anatomical structure morphogenesis, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 5 3 4 4 4 2 3 4 ENSG00000134201 chr1 109711780 109775428 + GSTM5 protein_coding Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008]. 2949 GO:0045171, GO:0005829, GO:0005829, intercellular bridge, cytosol, cytosol, GO:0042802, GO:0005515, GO:0004364, GO:0004364, identical protein binding, protein binding, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0006749, GO:0006749, glutathione derivative biosynthetic process, glutathione metabolic process, glutathione metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000134202 chr1 109733932 109741038 - GSTM3 protein_coding Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]. 2947 GO:0070062, GO:0045171, GO:0035686, GO:0005829, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, intercellular bridge, sperm fibrous sheath, cytosol, cytosol, cytoplasm, nucleus, GO:0043295, GO:0042803, GO:0042803, GO:0042802, GO:0019899, GO:0005515, GO:0004364, GO:0004364, glutathione binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, enzyme binding, protein binding, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0070458, GO:0043627, GO:0042178, GO:0018916, GO:0008065, GO:0006749, GO:0006749, glutathione derivative biosynthetic process, cellular detoxification of nitrogen compound, response to estrogen, xenobiotic catabolic process, nitrobenzene metabolic process, establishment of blood-nerve barrier, glutathione metabolic process, glutathione metabolic process, 4 8 2 37 19 44 31 7 18 ENSG00000134207 chr1 114089291 114153919 - SYT6 protein_coding The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]. 148281 GO:0097038, GO:0070382, GO:0030672, GO:0019898, GO:0016021, GO:0005886, GO:0005886, GO:0005829, perinuclear endoplasmic reticulum, exocytic vesicle, synaptic vesicle membrane, extrinsic component of membrane, integral component of membrane, plasma membrane, plasma membrane, cytosol, GO:0048306, GO:0042803, GO:0030276, GO:0030276, GO:0019905, GO:0019905, GO:0005544, GO:0005509, GO:0001786, GO:0000149, calcium-dependent protein binding, protein homodimerization activity, clathrin binding, clathrin binding, syntaxin binding, syntaxin binding, calcium-dependent phospholipid binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:0071277, GO:0060478, GO:0017158, GO:0017156, GO:0016192, GO:0014059, cellular response to calcium ion, acrosomal vesicle exocytosis, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, 0 0 0 0 0 0 0 0 0 ENSG00000134215 chr1 107571160 107965144 - VAV3 protein_coding This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 10451 GO:0005829, GO:0001772, cytosol, immunological synapse, GO:0046872, GO:0005515, GO:0005154, GO:0005096, GO:0005085, GO:0005085, GO:0005085, metal ion binding, protein binding, epidermal growth factor receptor binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0050853, GO:0048013, GO:0048010, GO:0045785, GO:0043552, GO:0043547, GO:0043087, GO:0043065, GO:0042493, GO:0038096, GO:0038095, GO:0030890, GO:0030593, GO:0030168, GO:0030032, GO:0008361, GO:0008361, GO:0007264, GO:0007229, GO:0007186, GO:0006974, GO:0006906, GO:0001525, regulation of small GTPase mediated signal transduction, B cell receptor signaling pathway, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of cell adhesion, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of GTPase activity, regulation of GTPase activity, positive regulation of apoptotic process, response to drug, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, positive regulation of B cell proliferation, neutrophil chemotaxis, platelet activation, lamellipodium assembly, regulation of cell size, regulation of cell size, small GTPase mediated signal transduction, integrin-mediated signaling pathway, G protein-coupled receptor signaling pathway, cellular response to DNA damage stimulus, vesicle fusion, angiogenesis, 554 474 785 281 466 569 325 311 453 ENSG00000134216 chr1 111290862 111320566 + CHIA protein_coding The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 27159 GO:0005737, GO:0005737, GO:0005615, GO:0005576, GO:0005576, cytoplasm, cytoplasm, extracellular space, extracellular region, extracellular region, GO:0019900, GO:0008061, GO:0005515, GO:0004568, GO:0004568, GO:0004568, GO:0004568, kinase binding, chitin binding, protein binding, chitinase activity, chitinase activity, chitinase activity, chitinase activity, GO:0044245, GO:0032722, GO:0006915, GO:0006032, GO:0006032, GO:0006030, GO:0002532, GO:0002376, GO:0000272, polysaccharide digestion, positive regulation of chemokine production, apoptotic process, chitin catabolic process, chitin catabolic process, chitin metabolic process, production of molecular mediator involved in inflammatory response, immune system process, polysaccharide catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000134222 chr1 109279556 109283186 - PSRC1 protein_coding This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]. 84722 GO:0030496, GO:0015630, GO:0015630, GO:0005876, GO:0005876, GO:0005829, GO:0005819, GO:0005737, GO:0005654, GO:0000922, GO:0000922, midbody, microtubule cytoskeleton, microtubule cytoskeleton, spindle microtubule, spindle microtubule, cytosol, spindle, cytoplasm, nucleoplasm, spindle pole, spindle pole, GO:0008017, GO:0008017, GO:0005515, microtubule binding, microtubule binding, protein binding, GO:0060236, GO:0051301, GO:0045893, GO:0045737, GO:0031116, GO:0030308, GO:0007080, GO:0007080, GO:0001578, regulation of mitotic spindle organization, cell division, positive regulation of transcription, DNA-templated, positive regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of microtubule polymerization, negative regulation of cell growth, mitotic metaphase plate congression, mitotic metaphase plate congression, microtubule bundle formation, 44 63 33 46 73 22 47 40 47 ENSG00000134240 chr1 119747996 119768905 - HMGCS2 protein_coding The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 3158 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0042802, GO:0004421, GO:0004421, GO:0004421, GO:0004421, identical protein binding, hydroxymethylglutaryl-CoA synthase activity, hydroxymethylglutaryl-CoA synthase activity, hydroxymethylglutaryl-CoA synthase activity, hydroxymethylglutaryl-CoA synthase activity, GO:0046951, GO:0046951, GO:0019216, GO:0010142, GO:0006695, GO:0006084, GO:0006084, ketone body biosynthetic process, ketone body biosynthetic process, regulation of lipid metabolic process, farnesyl diphosphate biosynthetic process, mevalonate pathway, cholesterol biosynthetic process, acetyl-CoA metabolic process, acetyl-CoA metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000134242 chr1 113813811 113871759 - PTPN22 protein_coding This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]. 26191 GO:0048471, GO:0009898, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005634, perinuclear region of cytoplasm, cytoplasmic side of plasma membrane, cytosol, cytoplasm, cytoplasm, cytoplasm, nucleus, nucleus, GO:0031625, GO:0019900, GO:0017124, GO:0016791, GO:0005515, GO:0004726, GO:0004725, GO:0004725, ubiquitin protein ligase binding, kinase binding, SH3 domain binding, phosphatase activity, protein binding, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:2000566, GO:1903753, GO:1903753, GO:1902523, GO:1902523, GO:1901222, GO:1901222, GO:0071663, GO:0071225, GO:0070433, GO:0070433, GO:0070374, GO:0070374, GO:0050868, GO:0050868, GO:0050860, GO:0050855, GO:0050852, GO:0050852, GO:0045088, GO:0043508, GO:0035644, GO:0035335, GO:0034165, GO:0034157, GO:0034145, GO:0034145, GO:0034141, GO:0034141, GO:0032817, GO:0032729, GO:0032720, GO:0032720, GO:0032717, GO:0032715, GO:0032496, GO:0032481, GO:0031663, GO:0030217, GO:0030217, GO:0010629, GO:0010628, GO:0010507, GO:0006914, GO:0006470, GO:0006470, GO:0002230, positive regulation of CD8-positive, alpha-beta T cell proliferation, negative regulation of p38MAPK cascade, negative regulation of p38MAPK cascade, positive regulation of protein K63-linked ubiquitination, positive regulation of protein K63-linked ubiquitination, regulation of NIK/NF-kappaB signaling, regulation of NIK/NF-kappaB signaling, positive regulation of granzyme B production, cellular response to muramyl dipeptide, negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of T cell activation, negative regulation of T cell activation, negative regulation of T cell receptor signaling pathway, regulation of B cell receptor signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, regulation of innate immune response, negative regulation of JUN kinase activity, phosphoanandamide dephosphorylation, peptidyl-tyrosine dephosphorylation, positive regulation of toll-like receptor 9 signaling pathway, positive regulation of toll-like receptor 7 signaling pathway, positive regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 3 signaling pathway, positive regulation of toll-like receptor 3 signaling pathway, regulation of natural killer cell proliferation, positive regulation of interferon-gamma production, negative regulation of tumor necrosis factor production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, response to lipopolysaccharide, positive regulation of type I interferon production, lipopolysaccharide-mediated signaling pathway, T cell differentiation, T cell differentiation, negative regulation of gene expression, positive regulation of gene expression, negative regulation of autophagy, autophagy, protein dephosphorylation, protein dephosphorylation, positive regulation of defense response to virus by host, 189 211 383 203 139 309 143 138 221 ENSG00000134243 chr1 109309568 109397951 - SORT1 protein_coding This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 6272 GO:0048471, GO:0043025, GO:0032580, GO:0031965, GO:0031410, GO:0030659, GO:0030425, GO:0030140, GO:0030136, GO:0016021, GO:0016021, GO:0010008, GO:0009986, GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005794, GO:0005789, GO:0005769, GO:0005765, GO:0005764, perinuclear region of cytoplasm, neuronal cell body, Golgi cisterna membrane, nuclear membrane, cytoplasmic vesicle, cytoplasmic vesicle membrane, dendrite, trans-Golgi network transport vesicle, clathrin-coated vesicle, integral component of membrane, integral component of membrane, endosome membrane, cell surface, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, early endosome, lysosomal membrane, lysosome, GO:1905394, GO:0048406, GO:0030379, GO:0019899, GO:0010465, GO:0005515, retromer complex binding, nerve growth factor binding, neurotensin receptor activity, non-G protein-coupled, enzyme binding, nerve growth factor receptor activity, protein binding, GO:1904037, GO:0051005, GO:0048227, GO:0048011, GO:0046323, GO:0045599, GO:0038180, GO:0032868, GO:0032509, GO:0016050, GO:0016050, GO:0014902, GO:0010468, GO:0008625, GO:0008333, GO:0007275, GO:0007218, GO:0007186, GO:0006897, GO:0006897, GO:0006895, GO:0006895, GO:0006892, GO:0006622, GO:0001503, positive regulation of epithelial cell apoptotic process, negative regulation of lipoprotein lipase activity, plasma membrane to endosome transport, neurotrophin TRK receptor signaling pathway, glucose import, negative regulation of fat cell differentiation, nerve growth factor signaling pathway, response to insulin, endosome transport via multivesicular body sorting pathway, vesicle organization, vesicle organization, myotube differentiation, regulation of gene expression, extrinsic apoptotic signaling pathway via death domain receptors, endosome to lysosome transport, multicellular organism development, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, endocytosis, endocytosis, Golgi to endosome transport, Golgi to endosome transport, post-Golgi vesicle-mediated transport, protein targeting to lysosome, ossification, 346 282 460 75 216 163 158 151 189 ENSG00000134245 chr1 112466541 112530165 + WNT2B protein_coding This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 7482 GO:0062023, GO:0043231, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, extracellular space, extracellular space, extracellular region, GO:0005125, GO:0005109, cytokine activity, frizzled binding, GO:0090190, GO:0071425, GO:0061303, GO:0061072, GO:0060638, GO:0060492, GO:0060070, GO:0060070, GO:0060070, GO:0045165, GO:0030182, GO:0030182, GO:0021871, GO:0016055, GO:0009267, GO:0008584, GO:0002088, GO:0002062, positive regulation of branching involved in ureteric bud morphogenesis, hematopoietic stem cell proliferation, cornea development in camera-type eye, iris morphogenesis, mesenchymal-epithelial cell signaling, lung induction, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, cell fate commitment, neuron differentiation, neuron differentiation, forebrain regionalization, Wnt signaling pathway, cellular response to starvation, male gonad development, lens development in camera-type eye, chondrocyte differentiation, 11 3 25 10 7 16 15 2 0 ENSG00000134247 chr1 116910057 116990358 + PTGFRN protein_coding 5738 GO:0016021, GO:0009986, GO:0005794, GO:0005789, integral component of membrane, cell surface, Golgi apparatus, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0034389, GO:0014905, lipid droplet organization, myoblast fusion involved in skeletal muscle regeneration, 1 0 4 10 0 0 0 0 3 ENSG00000134248 chr1 110401249 110407942 - LAMTOR5 protein_coding This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]. 10542 GO:0071986, GO:0071986, GO:0032991, GO:0005829, GO:0005765, GO:0005764, GO:0005764, Ragulator complex, Ragulator complex, protein-containing complex, cytosol, lysosomal membrane, lysosome, lysosome, GO:0060090, GO:0005515, GO:0005085, GO:0005085, molecular adaptor activity, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1905636, GO:1904263, GO:1900182, GO:0071230, GO:0071230, GO:0061462, GO:0051092, GO:0043154, GO:0043123, GO:0032757, GO:0032008, GO:0019079, GO:0016241, GO:0010628, GO:0009615, GO:0008361, GO:0007050, positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding, positive regulation of TORC1 signaling, positive regulation of protein localization to nucleus, cellular response to amino acid stimulus, cellular response to amino acid stimulus, protein localization to lysosome, positive regulation of NF-kappaB transcription factor activity, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of interleukin-8 production, positive regulation of TOR signaling, viral genome replication, regulation of macroautophagy, positive regulation of gene expression, response to virus, regulation of cell size, cell cycle arrest, 432 288 486 242 313 305 270 241 330 ENSG00000134249 chr1 119893533 119896495 - ADAM30 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]. 11085 GO:1990913, GO:0031902, GO:0016021, GO:0009897, GO:0005886, GO:0005886, sperm head plasma membrane, late endosome membrane, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0008270, GO:0008237, GO:0005515, GO:0004222, zinc ion binding, metallopeptidase activity, protein binding, metalloendopeptidase activity, GO:0007339, GO:0006508, binding of sperm to zona pellucida, proteolysis, 0 0 0 2 0 4 0 0 0 ENSG00000134250 chr1 119911553 120069626 - NOTCH2 protein_coding This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 4853 GO:0043235, GO:0043235, GO:0016020, GO:0009986, GO:0009986, GO:0005929, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005654, GO:0005654, GO:0005634, GO:0005576, GO:0000139, receptor complex, receptor complex, membrane, cell surface, cell surface, cilium, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, nucleoplasm, nucleoplasm, nucleus, extracellular region, Golgi membrane, GO:0051059, GO:0038023, GO:0019899, GO:0005515, GO:0005509, NF-kappaB binding, signaling receptor activity, enzyme binding, protein binding, calcium ion binding, GO:2001204, GO:2000249, GO:1990705, GO:0072574, GO:0072104, GO:0072015, GO:0072014, GO:0070986, GO:0070374, GO:0061314, GO:0061073, GO:0060674, GO:0060413, GO:0046849, GO:0046579, GO:0045967, GO:0045672, GO:0043066, GO:0043065, GO:0043011, GO:0042742, GO:0042060, GO:0035622, GO:0035264, GO:0032633, GO:0030513, GO:0030326, GO:0030097, GO:0019827, GO:0010838, GO:0010629, GO:0009887, GO:0007411, GO:0007399, GO:0007275, GO:0007219, GO:0007219, GO:0007219, GO:0007050, GO:0006959, GO:0006915, GO:0006367, GO:0003184, GO:0002437, GO:0002315, GO:0002011, GO:0001947, GO:0001709, GO:0001701, GO:0000122, regulation of osteoclast development, regulation of actin cytoskeleton reorganization, cholangiocyte proliferation, hepatocyte proliferation, glomerular capillary formation, glomerular visceral epithelial cell development, proximal tubule development, left/right axis specification, positive regulation of ERK1 and ERK2 cascade, Notch signaling involved in heart development, ciliary body morphogenesis, placenta blood vessel development, atrial septum morphogenesis, bone remodeling, positive regulation of Ras protein signal transduction, negative regulation of growth rate, positive regulation of osteoclast differentiation, negative regulation of apoptotic process, positive regulation of apoptotic process, myeloid dendritic cell differentiation, defense response to bacterium, wound healing, intrahepatic bile duct development, multicellular organism growth, interleukin-4 production, positive regulation of BMP signaling pathway, embryonic limb morphogenesis, hemopoiesis, stem cell population maintenance, positive regulation of keratinocyte proliferation, negative regulation of gene expression, animal organ morphogenesis, axon guidance, nervous system development, multicellular organism development, Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, cell cycle arrest, humoral immune response, apoptotic process, transcription initiation from RNA polymerase II promoter, pulmonary valve morphogenesis, inflammatory response to antigenic stimulus, marginal zone B cell differentiation, morphogenesis of an epithelial sheet, heart looping, cell fate determination, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 7726 7387 8137 3818 4754 4154 4445 3451 3543 ENSG00000134253 chr1 117111060 117122587 - TRIM45 protein_coding This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]. 80263 GO:0045171, GO:0005829, GO:0005654, GO:0005654, GO:0000785, intercellular bridge, cytosol, nucleoplasm, nucleoplasm, chromatin, GO:0008270, GO:0004842, zinc ion binding, ubiquitin-protein transferase activity, GO:0060348, GO:0045893, GO:0016567, bone development, positive regulation of transcription, DNA-templated, protein ubiquitination, 1 0 4 3 7 9 1 4 2 ENSG00000134255 chr1 111139627 111185102 + CEPT1 protein_coding This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. 10390 GO:0031965, GO:0016021, GO:0005794, GO:0005789, GO:0005789, nuclear membrane, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0046872, GO:0005515, GO:0004307, GO:0004142, metal ion binding, protein binding, ethanolaminephosphotransferase activity, diacylglycerol cholinephosphotransferase activity, GO:0006657, GO:0006656, GO:0006646, GO:0006646, GO:0006646, GO:0006629, CDP-choline pathway, phosphatidylcholine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, lipid metabolic process, 130 161 156 246 368 374 247 247 240 ENSG00000134256 chr1 117001750 117036476 + CD101 protein_coding 9398 GO:0070062, GO:0016021, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, GO:0016812, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides, GO:0007166, GO:0002763, cell surface receptor signaling pathway, positive regulation of myeloid leukocyte differentiation, 20 60 66 20 9 46 12 1 38 ENSG00000134258 chr1 117143587 117210960 - VTCN1 protein_coding This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 79679 GO:0016021, GO:0009897, GO:0009897, integral component of membrane, external side of plasma membrane, external side of plasma membrane, GO:0005102, GO:0003674, signaling receptor binding, molecular_function, GO:0050868, GO:0050852, GO:0043066, GO:0042130, GO:0042102, GO:0032743, GO:0032633, GO:0032609, GO:0002250, GO:0001817, GO:0001562, negative regulation of T cell activation, T cell receptor signaling pathway, negative regulation of apoptotic process, negative regulation of T cell proliferation, positive regulation of T cell proliferation, positive regulation of interleukin-2 production, interleukin-4 production, interferon-gamma production, adaptive immune response, regulation of cytokine production, response to protozoan, 0 0 0 0 0 0 0 0 0 ENSG00000134259 chr1 115285918 115338236 - NGF protein_coding This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008]. 4803 GO:0031904, GO:0030425, GO:0030424, GO:0008021, GO:0005829, GO:0005796, GO:0005615, GO:0005576, endosome lumen, dendrite, axon, synaptic vesicle, cytosol, Golgi lumen, extracellular space, extracellular region, GO:0008289, GO:0008191, GO:0008083, GO:0005515, GO:0005163, GO:0005163, lipid binding, metalloendopeptidase inhibitor activity, growth factor activity, protein binding, nerve growth factor receptor binding, nerve growth factor receptor binding, GO:0050804, GO:0050772, GO:0048812, GO:0048812, GO:0048672, GO:0048015, GO:0048011, GO:0046579, GO:0045666, GO:0045664, GO:0043524, GO:0043388, GO:0043281, GO:0043154, GO:0043066, GO:0043065, GO:0038180, GO:0033138, GO:0032455, GO:0021675, GO:0010628, GO:0010628, GO:0008625, GO:0008285, GO:0007613, GO:0007422, GO:0007169, GO:0006919, GO:0000186, modulation of chemical synaptic transmission, positive regulation of axonogenesis, neuron projection morphogenesis, neuron projection morphogenesis, positive regulation of collateral sprouting, phosphatidylinositol-mediated signaling, neurotrophin TRK receptor signaling pathway, positive regulation of Ras protein signal transduction, positive regulation of neuron differentiation, regulation of neuron differentiation, negative regulation of neuron apoptotic process, positive regulation of DNA binding, regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, nerve growth factor signaling pathway, positive regulation of peptidyl-serine phosphorylation, nerve growth factor processing, nerve development, positive regulation of gene expression, positive regulation of gene expression, extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of cell population proliferation, memory, peripheral nervous system development, transmembrane receptor protein tyrosine kinase signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of MAPKK activity, 0 0 0 0 0 0 0 0 0 ENSG00000134262 chr1 113894748 113905201 - AP4B1 protein_coding This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 10717 GO:0032588, GO:0031904, GO:0030131, GO:0030124, GO:0019898, GO:0005829, GO:0005802, trans-Golgi network membrane, endosome lumen, clathrin adaptor complex, AP-4 adaptor complex, extrinsic component of membrane, cytosol, trans-Golgi network, GO:0030276, GO:0005515, clathrin binding, protein binding, GO:0016192, GO:0008104, GO:0006605, vesicle-mediated transport, protein localization, protein targeting, 99 128 158 140 127 174 117 85 117 ENSG00000134265 chr18 10525905 10552761 + NAPG protein_coding This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]. 8774 GO:0070062, GO:0031201, GO:0005774, GO:0005765, GO:0005739, extracellular exosome, SNARE complex, vacuolar membrane, lysosomal membrane, mitochondrion, GO:0019905, GO:0005515, GO:0005483, syntaxin binding, protein binding, soluble NSF attachment protein activity, GO:0065003, GO:0061025, GO:0050821, GO:0006891, GO:0006886, protein-containing complex assembly, membrane fusion, protein stabilization, intra-Golgi vesicle-mediated transport, intracellular protein transport, 471 531 516 516 590 599 545 434 433 ENSG00000134278 chr18 12446512 12658134 - SPIRE1 protein_coding Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]. 56907 GO:0048471, GO:0032154, GO:0031307, GO:0030659, GO:0030659, GO:0005938, GO:0005938, GO:0005856, GO:0005829, GO:0005654, perinuclear region of cytoplasm, cleavage furrow, integral component of mitochondrial outer membrane, cytoplasmic vesicle membrane, cytoplasmic vesicle membrane, cell cortex, cell cortex, cytoskeleton, cytosol, nucleoplasm, GO:0005515, GO:0003779, protein binding, actin binding, GO:2000781, GO:0090141, GO:0070649, GO:0051639, GO:0051295, GO:0051295, GO:0048193, GO:0046907, GO:0046907, GO:0045010, GO:0040038, GO:0040038, GO:0036089, GO:0036089, GO:0030041, GO:0030036, GO:0016192, GO:0015031, positive regulation of double-strand break repair, positive regulation of mitochondrial fission, formin-nucleated actin cable assembly, actin filament network formation, establishment of meiotic spindle localization, establishment of meiotic spindle localization, Golgi vesicle transport, intracellular transport, intracellular transport, actin nucleation, polar body extrusion after meiotic divisions, polar body extrusion after meiotic divisions, cleavage furrow formation, cleavage furrow formation, actin filament polymerization, actin cytoskeleton organization, vesicle-mediated transport, protein transport, 0 3 4 9 2 0 1 5 5 ENSG00000134283 chr12 42238447 42459715 + PPHLN1 protein_coding The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 51535 GO:0005829, GO:0005794, GO:0005694, GO:0005654, GO:0005654, cytosol, Golgi apparatus, chromosome, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0097355, GO:0097355, GO:0090309, GO:0045892, GO:0045814, GO:0045814, GO:0031424, protein localization to heterochromatin, protein localization to heterochromatin, positive regulation of DNA methylation-dependent heterochromatin assembly, negative regulation of transcription, DNA-templated, negative regulation of gene expression, epigenetic, negative regulation of gene expression, epigenetic, keratinization, 302 296 323 297 305 243 257 250 212 ENSG00000134285 chr12 48921518 48926474 - FKBP11 protein_coding FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]. 51303 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0003755, peptidyl-prolyl cis-trans isomerase activity, GO:0000413, protein peptidyl-prolyl isomerization, 109 99 117 153 222 298 197 153 218 ENSG00000134287 chr12 48935723 48957551 - ARF3 protein_coding ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008]. 377 GO:0070062, GO:0048471, GO:0005886, GO:0005737, GO:0000139, extracellular exosome, perinuclear region of cytoplasm, plasma membrane, cytoplasm, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0016192, GO:0006890, GO:0006886, GO:0006661, vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, phosphatidylinositol biosynthetic process, 1775 2045 2385 570 1212 906 661 1202 862 ENSG00000134291 chr12 47963569 47968878 + TMEM106C protein_coding 79022 GO:0016021, GO:0005789, GO:0005575, integral component of membrane, endoplasmic reticulum membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 12 5 23 32 11 31 32 12 32 ENSG00000134294 chr12 46358189 46372867 - SLC38A2 protein_coding 54407 GO:0043025, GO:0042383, GO:0030425, GO:0030424, GO:0005903, GO:0005887, GO:0005886, GO:0005886, GO:0005737, neuronal cell body, sarcolemma, dendrite, axon, brush border, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0015194, GO:0015186, GO:0015186, GO:0015171, GO:0015171, GO:0005515, GO:0005295, L-serine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-glutamine transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, neutral amino acid:sodium symporter activity, GO:1903841, GO:0150104, GO:0080135, GO:0071260, GO:0034198, GO:0033120, GO:0032328, GO:0031460, GO:0021987, GO:0015825, GO:0015804, GO:0014047, GO:0010628, GO:0007565, GO:0006868, GO:0006868, GO:0006865, GO:0006814, GO:0003333, GO:0003333, cellular response to arsenite(3-), transport across blood-brain barrier, regulation of cellular response to stress, cellular response to mechanical stimulus, cellular response to amino acid starvation, positive regulation of RNA splicing, alanine transport, glycine betaine transport, cerebral cortex development, L-serine transport, neutral amino acid transport, glutamate secretion, positive regulation of gene expression, female pregnancy, glutamine transport, glutamine transport, amino acid transport, sodium ion transport, amino acid transmembrane transport, amino acid transmembrane transport, 2610 3037 3989 2618 4210 3860 2550 2260 2728 ENSG00000134297 chr12 45173064 45216041 - PLEKHA8P1 transcribed_processed_pseudogene 51054 GO:0016020, GO:0005829, membrane, cytosol, GO:1902388, GO:1902387, ceramide 1-phosphate transfer activity, ceramide 1-phosphate binding, GO:1902389, GO:0120009, GO:0035627, GO:0035621, ceramide 1-phosphate transport, intermembrane lipid transfer, ceramide transport, ER to Golgi ceramide transport, 3 4 6 3 9 3 13 12 13 ENSG00000134308 chr2 9583972 9631014 - YWHAQ protein_coding This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]. 10971 GO:0070062, GO:0045202, GO:0032991, GO:0016020, GO:0005925, GO:0005829, GO:0005739, GO:0005737, extracellular exosome, synapse, protein-containing complex, membrane, focal adhesion, cytosol, mitochondrion, cytoplasm, GO:0071889, GO:0047485, GO:0044325, GO:0042802, GO:0019904, GO:0008022, GO:0005515, 14-3-3 protein binding, protein N-terminus binding, ion channel binding, identical protein binding, protein domain specific binding, protein C-terminus binding, protein binding, GO:1900740, GO:0061024, GO:0045892, GO:0034766, GO:0021762, GO:0007264, GO:0006605, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, membrane organization, negative regulation of transcription, DNA-templated, negative regulation of ion transmembrane transport, substantia nigra development, small GTPase mediated signal transduction, protein targeting, 568 461 756 557 410 708 469 374 612 ENSG00000134313 chr2 8721081 8837630 - KIDINS220 protein_coding This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 57498 GO:0032991, GO:0016021, GO:0016020, GO:0005829, GO:0005770, protein-containing complex, integral component of membrane, membrane, cytosol, late endosome, GO:0030165, GO:0030165, GO:0019887, PDZ domain binding, PDZ domain binding, protein kinase regulator activity, GO:1990090, GO:0048813, GO:0038180, GO:0038180, GO:0010976, GO:0001701, GO:0000186, cellular response to nerve growth factor stimulus, dendrite morphogenesis, nerve growth factor signaling pathway, nerve growth factor signaling pathway, positive regulation of neuron projection development, in utero embryonic development, activation of MAPKK activity, 1783 1851 2251 1177 1607 1603 1581 1182 1334 ENSG00000134317 chr2 9951693 10002277 + GRHL1 protein_coding This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]. 29841 GO:0043231, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0042803, GO:0031490, GO:0005515, GO:0001228, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein homodimerization activity, chromatin DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0061436, GO:0045944, GO:0045944, GO:0045616, GO:0019216, GO:0008544, GO:0006357, GO:0002934, establishment of skin barrier, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of keratinocyte differentiation, regulation of lipid metabolic process, epidermis development, regulation of transcription by RNA polymerase II, desmosome organization, 10 7 31 3 1 0 0 2 5 ENSG00000134318 chr2 11179761 11348330 - ROCK2 protein_coding The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]. 9475 GO:0036464, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0005634, cytoplasmic ribonucleoprotein granule, plasma membrane, cytoskeleton, cytosol, cytosol, centrosome, centrosome, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0072518, GO:0072518, GO:0072518, GO:0050321, GO:0048156, GO:0046872, GO:0031267, GO:0005524, GO:0005515, GO:0005198, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0003723, protein threonine kinase activity, protein serine kinase activity, Rho-dependent protein serine/threonine kinase activity, Rho-dependent protein serine/threonine kinase activity, Rho-dependent protein serine/threonine kinase activity, tau-protein kinase activity, tau protein binding, metal ion binding, small GTPase binding, ATP binding, protein binding, structural molecule activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, RNA binding, GO:2000145, GO:2000114, GO:1990776, GO:1905205, GO:1905145, GO:1903347, GO:1903140, GO:1903140, GO:1902993, GO:1902993, GO:1902966, GO:1902961, GO:1902961, GO:1902004, GO:1902004, GO:1901888, GO:1900037, GO:0150033, GO:0110061, GO:0097746, GO:0090271, GO:0072659, GO:0072659, GO:0071559, GO:0071394, GO:0070168, GO:0061157, GO:0051893, GO:0051496, GO:0051492, GO:0051298, GO:0051246, GO:0048598, GO:0048511, GO:0048013, GO:0048010, GO:0045616, GO:0045019, GO:0045019, GO:0043410, GO:0042752, GO:0039694, GO:0035509, GO:0035509, GO:0032956, GO:0032723, GO:0031644, GO:0031032, GO:0030866, GO:0030866, GO:0030866, GO:0030335, GO:0030155, GO:0018107, GO:0018107, GO:0018107, GO:0018105, GO:0018105, GO:0016525, GO:0010825, GO:0010629, GO:0010628, GO:0010628, GO:0010613, GO:0010595, GO:0007266, GO:0007249, GO:0007186, GO:0006939, GO:0006468, GO:0003180, GO:0002931, GO:0001934, GO:0000281, regulation of cell motility, regulation of establishment of cell polarity, response to angiotensin, positive regulation of connective tissue replacement, cellular response to acetylcholine, negative regulation of bicellular tight junction assembly, regulation of establishment of endothelial barrier, regulation of establishment of endothelial barrier, positive regulation of amyloid precursor protein catabolic process, positive regulation of amyloid precursor protein catabolic process, positive regulation of protein localization to early endosome, positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, positive regulation of amyloid-beta formation, positive regulation of amyloid-beta formation, regulation of cell junction assembly, regulation of cellular response to hypoxia, negative regulation of protein localization to lysosome, regulation of angiotensin-activated signaling pathway, blood vessel diameter maintenance, positive regulation of fibroblast growth factor production, protein localization to plasma membrane, protein localization to plasma membrane, response to transforming growth factor beta, cellular response to testosterone stimulus, negative regulation of biomineral tissue development, mRNA destabilization, regulation of focal adhesion assembly, positive regulation of stress fiber assembly, regulation of stress fiber assembly, centrosome duplication, regulation of protein metabolic process, embryonic morphogenesis, rhythmic process, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, regulation of keratinocyte differentiation, negative regulation of nitric oxide biosynthetic process, negative regulation of nitric oxide biosynthetic process, positive regulation of MAPK cascade, regulation of circadian rhythm, viral RNA genome replication, negative regulation of myosin-light-chain-phosphatase activity, negative regulation of myosin-light-chain-phosphatase activity, regulation of actin cytoskeleton organization, positive regulation of connective tissue growth factor production, regulation of nervous system process, actomyosin structure organization, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, positive regulation of cell migration, regulation of cell adhesion, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, negative regulation of angiogenesis, positive regulation of centrosome duplication, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of cardiac muscle hypertrophy, positive regulation of endothelial cell migration, Rho protein signal transduction, I-kappaB kinase/NF-kappaB signaling, G protein-coupled receptor signaling pathway, smooth muscle contraction, protein phosphorylation, aortic valve morphogenesis, response to ischemia, positive regulation of protein phosphorylation, mitotic cytokinesis, 313 303 346 211 291 259 268 200 230 ENSG00000134321 chr2 6865806 6898239 + RSAD2 protein_coding The protein encoded by this gene is an interferon-inducible antiviral protein that belongs to the S-adenosyl-L-methionine (SAM) superfamily of enzymes. The protein plays a role in cellular antiviral response and innate immune signaling. Antiviral effects result from inhibition of viral RNA replication, interference in the secretory pathway, binding to viral proteins and dysregulation of cellular lipid metabolism. The protein has been found to inhibit both DNA and RNA viruses, including influenza virus, human immunodeficiency virus (HIV-1) and Zika virus. [provided by RefSeq, Sep 2020]. 91543 GO:0005811, GO:0005794, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0005743, GO:0005741, GO:0005739, GO:0005739, GO:0001650, lipid droplet, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, fibrillar center, GO:0051539, GO:0051539, GO:0046872, GO:0043621, GO:0005515, GO:0003824, 4 iron, 4 sulfur cluster binding, 4 iron, 4 sulfur cluster binding, metal ion binding, protein self-association, protein binding, catalytic activity, GO:2000553, GO:0060337, GO:0051607, GO:0051607, GO:0050778, GO:0050709, GO:0045071, GO:0043367, GO:0035710, GO:0034165, GO:0034157, GO:0016032, GO:0009615, positive regulation of T-helper 2 cell cytokine production, type I interferon signaling pathway, defense response to virus, defense response to virus, positive regulation of immune response, negative regulation of protein secretion, negative regulation of viral genome replication, CD4-positive, alpha-beta T cell differentiation, CD4-positive, alpha-beta T cell activation, positive regulation of toll-like receptor 9 signaling pathway, positive regulation of toll-like receptor 7 signaling pathway, viral process, response to virus, 266 276 568 559 634 1599 687 661 1435 ENSG00000134323 chr2 15940564 15947007 + MYCN protein_coding This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. 4613 GO:0005730, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, nucleolus, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0046983, GO:0019900, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, kinase binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000378, GO:1903800, GO:0048754, GO:0048712, GO:0048704, GO:0045944, GO:0045893, GO:0045607, GO:0042733, GO:0030324, GO:0010942, GO:0010629, GO:0010628, GO:0006357, GO:0006357, GO:0002053, GO:0001502, negative regulation of reactive oxygen species metabolic process, positive regulation of production of miRNAs involved in gene silencing by miRNA, branching morphogenesis of an epithelial tube, negative regulation of astrocyte differentiation, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of inner ear auditory receptor cell differentiation, embryonic digit morphogenesis, lung development, positive regulation of cell death, negative regulation of gene expression, positive regulation of gene expression, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, positive regulation of mesenchymal cell proliferation, cartilage condensation, 0 1 0 0 0 0 0 0 0 ENSG00000134324 chr2 11677595 11827409 + LPIN1 protein_coding This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]. 23175 GO:0031965, GO:0005829, GO:0005789, GO:0005741, GO:0005737, GO:0005654, GO:0005635, GO:0005634, GO:0005634, nuclear membrane, cytosol, endoplasmic reticulum membrane, mitochondrial outer membrane, cytoplasm, nucleoplasm, nuclear envelope, nucleus, nucleus, GO:0008195, GO:0005515, GO:0003713, phosphatidate phosphatase activity, protein binding, transcription coactivator activity, GO:0120162, GO:0045944, GO:0044255, GO:0032869, GO:0031100, GO:0019432, GO:0019432, GO:0016311, GO:0009062, GO:0009062, GO:0007077, GO:0006656, GO:0006646, GO:0006642, positive regulation of cold-induced thermogenesis, positive regulation of transcription by RNA polymerase II, cellular lipid metabolic process, cellular response to insulin stimulus, animal organ regeneration, triglyceride biosynthetic process, triglyceride biosynthetic process, dephosphorylation, fatty acid catabolic process, fatty acid catabolic process, mitotic nuclear envelope disassembly, phosphatidylcholine biosynthetic process, phosphatidylethanolamine biosynthetic process, triglyceride mobilization, 87 69 235 143 48 206 157 59 150 ENSG00000134326 chr2 6840570 6866635 - CMPK2 protein_coding This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 129607 GO:0005739, GO:0005739, GO:0005737, mitochondrion, mitochondrion, cytoplasm, GO:0033862, GO:0009041, GO:0005524, GO:0004798, GO:0004550, GO:0004550, GO:0004127, GO:0004127, UMP kinase activity, uridylate kinase activity, ATP binding, thymidylate kinase activity, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, cytidylate kinase activity, cytidylate kinase activity, GO:0071222, GO:0046940, GO:0009142, GO:0006235, GO:0006233, GO:0006227, GO:0006165, cellular response to lipopolysaccharide, nucleoside monophosphate phosphorylation, nucleoside triphosphate biosynthetic process, dTTP biosynthetic process, dTDP biosynthetic process, dUDP biosynthetic process, nucleoside diphosphate phosphorylation, 124 76 182 45 44 117 82 59 92 ENSG00000134330 chr2 9473658 9496543 + IAH1 protein_coding 285148 GO:0042802, GO:0016787, identical protein binding, hydrolase activity, GO:0016042, lipid catabolic process, 323 269 501 332 377 425 375 244 294 ENSG00000134333 chr11 18394388 18408425 + LDHA protein_coding The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]. 3939 GO:0070062, GO:0016020, GO:0005829, GO:0005634, extracellular exosome, membrane, cytosol, nucleus, GO:0051287, GO:0045296, GO:0042802, GO:0019900, GO:0005515, GO:0004459, GO:0004459, NAD binding, cadherin binding, identical protein binding, kinase binding, protein binding, L-lactate dehydrogenase activity, L-lactate dehydrogenase activity, GO:0055114, GO:0051591, GO:0048569, GO:0043627, GO:0043065, GO:0042542, GO:0042493, GO:0019674, GO:0009749, GO:0007584, GO:0006096, GO:0006090, GO:0006089, GO:0001666, oxidation-reduction process, response to cAMP, post-embryonic animal organ development, response to estrogen, positive regulation of apoptotic process, response to hydrogen peroxide, response to drug, NAD metabolic process, response to glucose, response to nutrient, glycolytic process, pyruvate metabolic process, lactate metabolic process, response to hypoxia, 600 576 996 550 478 675 543 477 521 ENSG00000134339 chr11 18239223 18248643 - SAA2 protein_coding This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. [provided by RefSeq, Jul 2020]. 6289 GO:0070062, GO:0034364, extracellular exosome, high-density lipoprotein particle, GO:0005515, protein binding, GO:0006953, acute-phase response, 0 0 0 0 0 0 0 0 0 ENSG00000134343 chr11 26309599 26663288 + ANO3 protein_coding The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 63982 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0046983, GO:0017128, GO:0005254, GO:0005229, protein dimerization activity, phospholipid scramblase activity, chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0061591, GO:0061590, GO:0055085, GO:0050982, GO:0034220, GO:0016048, chloride transmembrane transport, calcium activated galactosylceramide scrambling, calcium activated phosphatidylcholine scrambling, transmembrane transport, detection of mechanical stimulus, ion transmembrane transport, detection of temperature stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000134352 chr5 55935095 55994993 - IL6ST protein_coding The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]. 3572 GO:0070110, GO:0070062, GO:0043235, GO:0043025, GO:0016020, GO:0009897, GO:0005900, GO:0005896, GO:0005886, GO:0005576, ciliary neurotrophic factor receptor complex, extracellular exosome, receptor complex, neuronal cell body, membrane, external side of plasma membrane, oncostatin-M receptor complex, interleukin-6 receptor complex, plasma membrane, extracellular region, GO:0045509, GO:0042802, GO:0019981, GO:0019981, GO:0019970, GO:0019955, GO:0019838, GO:0019838, GO:0005515, GO:0005138, GO:0005127, GO:0004924, GO:0004923, GO:0004921, GO:0004915, GO:0004915, GO:0004897, GO:0004896, interleukin-27 receptor activity, identical protein binding, interleukin-6 binding, interleukin-6 binding, interleukin-11 binding, cytokine binding, growth factor binding, growth factor binding, protein binding, interleukin-6 receptor binding, ciliary neurotrophic factor receptor binding, oncostatin-M receptor activity, leukemia inhibitory factor receptor activity, interleukin-11 receptor activity, interleukin-6 receptor activity, interleukin-6 receptor activity, ciliary neurotrophic factor receptor activity, cytokine receptor activity, GO:0070757, GO:0070120, GO:0070106, GO:0070106, GO:0070102, GO:0070102, GO:0070102, GO:0060576, GO:0048861, GO:0048711, GO:0045747, GO:0045669, GO:0043066, GO:0042531, GO:0042102, GO:0038165, GO:0038154, GO:0034097, GO:0019221, GO:0019221, GO:0019221, GO:0016032, GO:0010613, GO:0010575, GO:0008284, GO:0008284, GO:0005977, GO:0002821, GO:0002675, interleukin-35-mediated signaling pathway, ciliary neurotrophic factor-mediated signaling pathway, interleukin-27-mediated signaling pathway, interleukin-27-mediated signaling pathway, interleukin-6-mediated signaling pathway, interleukin-6-mediated signaling pathway, interleukin-6-mediated signaling pathway, intestinal epithelial cell development, leukemia inhibitory factor signaling pathway, positive regulation of astrocyte differentiation, positive regulation of Notch signaling pathway, positive regulation of osteoblast differentiation, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of T cell proliferation, oncostatin-M-mediated signaling pathway, interleukin-11-mediated signaling pathway, response to cytokine, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, viral process, positive regulation of cardiac muscle hypertrophy, positive regulation of vascular endothelial growth factor production, positive regulation of cell population proliferation, positive regulation of cell population proliferation, glycogen metabolic process, positive regulation of adaptive immune response, positive regulation of acute inflammatory response, 604 382 949 851 389 824 649 250 516 ENSG00000134363 chr5 53480409 53487134 + FST protein_coding Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA. In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq, Jul 2008]. 10468 GO:0005737, GO:0005634, GO:0005615, GO:0005576, cytoplasm, nucleus, extracellular space, extracellular region, GO:0048185, GO:0048185, GO:0043395, GO:0038102, GO:0005515, activin binding, activin binding, heparan sulfate proteoglycan binding, activin receptor antagonist activity, protein binding, GO:0051798, GO:0045596, GO:0043616, GO:0042475, GO:0032926, GO:0032926, GO:0032926, GO:0031069, GO:0030510, GO:0030509, GO:0030154, GO:0008585, GO:0007389, GO:0007276, GO:0007275, GO:0002244, GO:0001501, GO:0000122, positive regulation of hair follicle development, negative regulation of cell differentiation, keratinocyte proliferation, odontogenesis of dentin-containing tooth, negative regulation of activin receptor signaling pathway, negative regulation of activin receptor signaling pathway, negative regulation of activin receptor signaling pathway, hair follicle morphogenesis, regulation of BMP signaling pathway, BMP signaling pathway, cell differentiation, female gonad development, pattern specification process, gamete generation, multicellular organism development, hematopoietic progenitor cell differentiation, skeletal system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 2 0 0 ENSG00000134365 chr1 196888014 196918713 + CFHR4 protein_coding This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]. 10877 GO:0005576, extracellular region, GO:0005319, lipid transporter activity, GO:0030449, GO:0006869, regulation of complement activation, lipid transport, 0 0 0 0 0 0 0 0 0 ENSG00000134369 chr1 201622885 201826969 + NAV1 protein_coding This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. 89796 GO:0043194, GO:0015630, GO:0005874, GO:0005737, axon initial segment, microtubule cytoskeleton, microtubule, cytoplasm, GO:0007399, GO:0001764, GO:0001578, nervous system development, neuron migration, microtubule bundle formation, 3 4 9 17 4 16 6 7 11 ENSG00000134371 chr1 193121800 193254815 + CDC73 protein_coding This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]. 79577 GO:0016593, GO:0016593, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000781, Cdc73/Paf1 complex, Cdc73/Paf1 complex, cytosol, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0005515, GO:0000993, GO:0000993, protein binding, RNA polymerase II complex binding, RNA polymerase II complex binding, GO:2000134, GO:1904837, GO:1902808, GO:0071222, GO:0050680, GO:0048147, GO:0045638, GO:0043066, GO:0034402, GO:0033523, GO:0032968, GO:0031648, GO:0031442, GO:0030177, GO:0019827, GO:0016567, GO:0016055, GO:0010390, GO:0008285, GO:0007049, GO:0006378, GO:0006368, GO:0006368, GO:0006366, GO:0001711, GO:0001558, GO:0000122, negative regulation of G1/S transition of mitotic cell cycle, beta-catenin-TCF complex assembly, positive regulation of cell cycle G1/S phase transition, cellular response to lipopolysaccharide, negative regulation of epithelial cell proliferation, negative regulation of fibroblast proliferation, negative regulation of myeloid cell differentiation, negative regulation of apoptotic process, recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex, histone H2B ubiquitination, positive regulation of transcription elongation from RNA polymerase II promoter, protein destabilization, positive regulation of mRNA 3'-end processing, positive regulation of Wnt signaling pathway, stem cell population maintenance, protein ubiquitination, Wnt signaling pathway, histone monoubiquitination, negative regulation of cell population proliferation, cell cycle, mRNA polyadenylation, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, endodermal cell fate commitment, regulation of cell growth, negative regulation of transcription by RNA polymerase II, 627 612 764 352 471 456 376 408 359 ENSG00000134375 chr1 201955491 201970661 + TIMM17A protein_coding 10440 GO:0031305, GO:0031305, GO:0005744, GO:0005744, GO:0005743, GO:0005739, GO:0005654, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, TIM23 mitochondrial import inner membrane translocase complex, TIM23 mitochondrial import inner membrane translocase complex, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0015450, GO:0008320, P-P-bond-hydrolysis-driven protein transmembrane transporter activity, protein transmembrane transporter activity, GO:0030150, GO:0010954, GO:0006626, protein import into mitochondrial matrix, positive regulation of protein processing, protein targeting to mitochondrion, 86 71 118 94 75 101 69 60 46 ENSG00000134376 chr1 197268204 197478455 + CRB1 protein_coding This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]. 23418 GO:0032991, GO:0032991, GO:0016324, GO:0016021, GO:0005912, GO:0005902, GO:0005886, GO:0005576, GO:0001917, protein-containing complex, protein-containing complex, apical plasma membrane, integral component of membrane, adherens junction, microvillus, plasma membrane, extracellular region, photoreceptor inner segment, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0060060, GO:0045494, GO:0045197, GO:0042462, GO:0035845, GO:0010001, GO:0007601, GO:0007267, GO:0007163, GO:0007157, GO:0007009, GO:0001974, post-embryonic retina morphogenesis in camera-type eye, photoreceptor cell maintenance, establishment or maintenance of epithelial cell apical/basal polarity, eye photoreceptor cell development, photoreceptor cell outer segment organization, glial cell differentiation, visual perception, cell-cell signaling, establishment or maintenance of cell polarity, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, plasma membrane organization, blood vessel remodeling, 0 0 0 0 0 0 0 0 0 ENSG00000134389 chr1 196977556 197009674 + CFHR5 protein_coding This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]. 81494 GO:0032991, GO:0005576, GO:0005576, protein-containing complex, extracellular region, extracellular region, GO:0046982, GO:0042802, GO:0005515, protein heterodimerization activity, identical protein binding, protein binding, GO:0051838, GO:0032091, GO:0030449, GO:0006957, cytolysis by host of symbiont cells, negative regulation of protein binding, regulation of complement activation, complement activation, alternative pathway, 0 0 0 0 0 0 0 0 0 ENSG00000134398 chr16 23690326 23713500 - ERN2 protein_coding 10595 GO:1990604, GO:1990604, GO:0016021, IRE1-TRAF2-ASK1 complex, IRE1-TRAF2-ASK1 complex, integral component of membrane, GO:0106311, GO:0106310, GO:0051082, GO:0005524, GO:0004674, GO:0004674, GO:0004521, GO:0004519, GO:0000287, protein threonine kinase activity, protein serine kinase activity, unfolded protein binding, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, endoribonuclease activity, endonuclease activity, magnesium ion binding, GO:0090502, GO:0070059, GO:0045892, GO:0036498, GO:0034976, GO:0030263, GO:0016075, GO:0006468, GO:0006397, RNA phosphodiester bond hydrolysis, endonucleolytic, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, negative regulation of transcription, DNA-templated, IRE1-mediated unfolded protein response, response to endoplasmic reticulum stress, apoptotic chromosome condensation, rRNA catabolic process, protein phosphorylation, mRNA processing, 0 0 0 0 0 3 0 1 0 ENSG00000134419 chr16 18781295 18790383 - RPS15A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6210 GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005829, GO:0005737, GO:0005654, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, cytosol, cytoplasm, nucleoplasm, GO:0005515, GO:0003735, GO:0003735, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0045787, GO:0019083, GO:0009615, GO:0008284, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000184, positive regulation of cell cycle, viral transcription, response to virus, positive regulation of cell population proliferation, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 338 238 431 688 442 792 487 343 556 ENSG00000134438 chr18 59267035 59274086 - RAX protein_coding This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]. 30062 GO:0000785, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060173, GO:0045944, GO:0043010, GO:0021854, GO:0007601, GO:0007389, GO:0006357, limb development, positive regulation of transcription by RNA polymerase II, camera-type eye development, hypothalamus development, visual perception, pattern specification process, regulation of transcription by RNA polymerase II, 0 0 0 1 0 0 0 0 0 ENSG00000134440 chr18 57600656 57622213 - NARS protein_coding Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]. 4677 GO:0070062, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytosol, cytoplasm, GO:0046983, GO:0031728, GO:0005524, GO:0005515, GO:0004816, GO:0004816, GO:0003676, protein dimerization activity, CCR3 chemokine receptor binding, ATP binding, protein binding, asparagine-tRNA ligase activity, asparagine-tRNA ligase activity, nucleic acid binding, GO:0016477, GO:0006421, GO:0006418, cell migration, asparaginyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 403 397 388 608 620 774 638 493 408 ENSG00000134443 chr18 59220168 59230774 + GRP protein_coding This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. The encoded preproprotein is proteolytically processed to generate two peptides, gastrin-releasing peptide and neuromedin-C. These peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 2922 GO:0034774, GO:0005615, GO:0005615, GO:0005576, secretory granule lumen, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0005184, GO:0005184, GO:0005102, protein binding, neuropeptide hormone activity, neuropeptide hormone activity, signaling receptor binding, GO:1900738, GO:0090277, GO:0043207, GO:0036343, GO:0035176, GO:0007218, GO:0007218, GO:0007186, GO:0007165, positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway, positive regulation of peptide hormone secretion, response to external biotic stimulus, psychomotor behavior, social behavior, neuropeptide signaling pathway, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000134444 chr18 62187255 62310217 + RELCH protein_coding 57614 GO:0055037, GO:0005802, recycling endosome, trans-Golgi network, GO:0032367, intracellular cholesterol transport, 995 999 1184 977 1164 1302 1148 835 1087 ENSG00000134452 chr10 5890203 5937594 + FBH1 protein_coding This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 84893 GO:0019005, GO:0005634, GO:0000785, SCF ubiquitin ligase complex, nucleus, chromatin, GO:0043138, GO:0043138, GO:0015616, GO:0005524, GO:0005515, GO:0003697, GO:0003690, GO:0003678, GO:0003678, 3'-5' DNA helicase activity, 3'-5' DNA helicase activity, DNA translocase activity, ATP binding, protein binding, single-stranded DNA binding, double-stranded DNA binding, DNA helicase activity, DNA helicase activity, GO:2000042, GO:1902231, GO:0072429, GO:0048478, GO:0035562, GO:0032508, GO:0031297, GO:0031297, GO:0016567, GO:0016567, GO:0008219, GO:0008219, GO:0006974, GO:0001934, GO:0000737, GO:0000725, GO:0000724, GO:0000724, negative regulation of double-strand break repair via homologous recombination, positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage, response to intra-S DNA damage checkpoint signaling, replication fork protection, negative regulation of chromatin binding, DNA duplex unwinding, replication fork processing, replication fork processing, protein ubiquitination, protein ubiquitination, cell death, cell death, cellular response to DNA damage stimulus, positive regulation of protein phosphorylation, DNA catabolic process, endonucleolytic, recombinational repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 335 318 391 409 565 494 426 392 438 ENSG00000134453 chr10 6088987 6117457 + RBM17 protein_coding This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]. 84991 GO:0005681, GO:0005654, GO:0005654, spliceosomal complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006281, GO:0000398, GO:0000381, GO:0000380, GO:0000380, DNA repair, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 214 162 286 283 167 379 248 158 265 ENSG00000134460 chr10 6010689 6062370 - IL2RA protein_coding The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]. 3559 GO:0009897, GO:0005893, GO:0005886, external side of plasma membrane, interleukin-2 receptor complex, plasma membrane, GO:0019976, GO:0005515, GO:0004911, interleukin-2 binding, protein binding, interleukin-2 receptor activity, GO:0050777, GO:0050728, GO:0050687, GO:0046013, GO:0045589, GO:0045582, GO:0042130, GO:0042104, GO:0038110, GO:0019221, GO:0007219, GO:0007166, GO:0006955, GO:0006954, GO:0006924, GO:0006915, GO:0002664, GO:0002437, GO:0000165, negative regulation of immune response, negative regulation of inflammatory response, negative regulation of defense response to virus, regulation of T cell homeostatic proliferation, regulation of regulatory T cell differentiation, positive regulation of T cell differentiation, negative regulation of T cell proliferation, positive regulation of activated T cell proliferation, interleukin-2-mediated signaling pathway, cytokine-mediated signaling pathway, Notch signaling pathway, cell surface receptor signaling pathway, immune response, inflammatory response, activation-induced cell death of T cells, apoptotic process, regulation of T cell tolerance induction, inflammatory response to antigenic stimulus, MAPK cascade, 21 14 40 36 15 57 69 6 28 ENSG00000134461 chr10 5861617 5889906 - ANKRD16 protein_coding 54522 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0006400, tRNA modification, 2 3 3 7 10 19 4 1 3 ENSG00000134463 chr10 11742366 11764070 + ECHDC3 protein_coding 79746 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0004300, enoyl-CoA hydratase activity, GO:1900078, GO:0006631, positive regulation of cellular response to insulin stimulus, fatty acid metabolic process, 30 33 89 15 15 39 10 15 9 ENSG00000134470 chr10 5943639 5978187 - IL15RA protein_coding This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]. 3601 GO:0031965, GO:0030659, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005789, GO:0005768, GO:0005615, GO:0000139, nuclear membrane, cytoplasmic vesicle membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endosome, extracellular space, Golgi membrane, GO:0042010, GO:0042010, GO:0019901, GO:0005515, GO:0004896, interleukin-15 receptor activity, interleukin-15 receptor activity, protein kinase binding, protein binding, cytokine receptor activity, GO:0050766, GO:0035723, GO:0035723, GO:0035723, positive regulation of phagocytosis, interleukin-15-mediated signaling pathway, interleukin-15-mediated signaling pathway, interleukin-15-mediated signaling pathway, 8 8 28 11 14 55 21 11 24 ENSG00000134480 chr5 87318416 87413019 - CCNH protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]. 902 GO:0070985, GO:0070985, GO:0070516, GO:0019907, GO:0019907, GO:0005675, GO:0005654, GO:0005654, GO:0005634, GO:0000439, transcription factor TFIIK complex, transcription factor TFIIK complex, CAK-ERCC2 complex, cyclin-dependent protein kinase activating kinase holoenzyme complex, cyclin-dependent protein kinase activating kinase holoenzyme complex, transcription factor TFIIH holo complex, nucleoplasm, nucleoplasm, nucleus, transcription factor TFIIH core complex, GO:0016538, GO:0016301, GO:0016251, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, kinase activity, RNA polymerase II general transcription initiation factor activity, protein binding, GO:0070816, GO:0050821, GO:0006370, GO:0006368, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006357, GO:0006294, GO:0006283, GO:0000086, GO:0000082, GO:0000079, phosphorylation of RNA polymerase II C-terminal domain, protein stabilization, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, regulation of transcription by RNA polymerase II, nucleotide-excision repair, preincision complex assembly, transcription-coupled nucleotide-excision repair, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 1168 1249 1668 1089 1331 1583 1408 1052 1250 ENSG00000134489 chr18 24460629 24479957 + HRH4 protein_coding Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 59340 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0016907, GO:0004993, GO:0004969, neurotransmitter receptor activity, G protein-coupled acetylcholine receptor activity, G protein-coupled serotonin receptor activity, histamine receptor activity, GO:0098664, GO:0043408, GO:0008150, GO:0007268, GO:0007204, GO:0007197, GO:0007187, GO:0007186, GO:0006954, G protein-coupled serotonin receptor signaling pathway, regulation of MAPK cascade, biological_process, chemical synaptic transmission, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, inflammatory response, 20 39 46 8 11 4 0 4 0 ENSG00000134490 chr18 23197144 23437961 - TMEM241 protein_coding 85019 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, GO:0015297, GO:0005515, antiporter activity, protein binding, GO:0055085, transmembrane transport, 2 7 5 4 1 2 8 1 5 ENSG00000134504 chr18 26454910 26657401 - KCTD1 protein_coding This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]. 284252 GO:0045171, GO:0034451, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intercellular bridge, centriolar satellite, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0008134, GO:0008134, GO:0005515, GO:0003714, GO:0003714, identical protein binding, transcription factor binding, transcription factor binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:0051260, GO:0045892, GO:0045892, GO:0000122, protein homooligomerization, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1 0 1 11 2 0 5 4 5 ENSG00000134508 chr18 23134564 23260467 + CABLES1 protein_coding This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 91768 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, protein binding, GO:0051726, GO:0051301, GO:0007049, regulation of cell cycle, cell division, cell cycle, 0 1 1 8 1 3 10 1 4 ENSG00000134516 chr5 169637247 170083382 + DOCK2 protein_coding The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]. 1794 GO:0070062, GO:0035580, GO:0016020, GO:0005856, GO:0005829, GO:0005576, extracellular exosome, specific granule lumen, membrane, cytoskeleton, cytosol, extracellular region, GO:0042608, GO:0005515, GO:0005096, GO:0005085, T cell receptor binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0050766, GO:0050690, GO:0046633, GO:0045060, GO:0045059, GO:0044351, GO:0043547, GO:0043312, GO:0030036, GO:0007264, GO:0006935, GO:0002277, GO:0001771, GO:0001768, GO:0001766, positive regulation of phagocytosis, regulation of defense response to virus by virus, alpha-beta T cell proliferation, negative thymic T cell selection, positive thymic T cell selection, macropinocytosis, positive regulation of GTPase activity, neutrophil degranulation, actin cytoskeleton organization, small GTPase mediated signal transduction, chemotaxis, myeloid dendritic cell activation involved in immune response, immunological synapse formation, establishment of T cell polarity, membrane raft polarization, 4644 4659 6096 2858 3916 4049 3641 3168 3641 ENSG00000134531 chr12 13196716 13219939 + EMP1 protein_coding 2012 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0032060, GO:0008544, GO:0008219, bleb assembly, epidermis development, cell death, 0 2 5 14 12 20 21 4 14 ENSG00000134532 chr12 23529500 24562544 - SOX5 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 6660 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0003700, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000976, protein binding, DNA-binding transcription factor activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000741, GO:0071560, GO:0061036, GO:0055059, GO:0051216, GO:0045165, GO:0032332, GO:0032332, GO:0006366, GO:0006357, GO:0002062, GO:0001502, positive regulation of mesenchymal stem cell differentiation, cellular response to transforming growth factor beta stimulus, positive regulation of cartilage development, asymmetric neuroblast division, cartilage development, cell fate commitment, positive regulation of chondrocyte differentiation, positive regulation of chondrocyte differentiation, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chondrocyte differentiation, cartilage condensation, 0 1 0 1 3 3 0 2 0 ENSG00000134533 chr12 15107783 15348675 - RERG protein_coding RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009]. 85004 GO:0005886, GO:0005829, GO:0005634, plasma membrane, cytosol, nucleus, GO:0030331, GO:0019003, GO:0019003, GO:0005525, GO:0003924, GO:0003924, estrogen receptor binding, GDP binding, GDP binding, GTP binding, GTPase activity, GTPase activity, GO:0030308, GO:0009725, GO:0008285, GO:0007265, GO:0007264, negative regulation of cell growth, response to hormone, negative regulation of cell population proliferation, Ras protein signal transduction, small GTPase mediated signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000134538 chr12 21131202 21239246 + SLCO1B1 protein_coding This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]. 10599 GO:0016323, GO:0016020, GO:0005887, GO:0005886, basolateral plasma membrane, membrane, integral component of plasma membrane, plasma membrane, GO:0015347, GO:0015125, GO:0015125, sodium-independent organic anion transmembrane transporter activity, bile acid transmembrane transporter activity, bile acid transmembrane transporter activity, GO:0055085, GO:0043252, GO:0043252, GO:0015721, GO:0015721, GO:0015711, transmembrane transport, sodium-independent organic anion transport, sodium-independent organic anion transport, bile acid and bile salt transport, bile acid and bile salt transport, organic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000134539 chr12 10226058 10329600 + KLRD1 protein_coding Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]. 3824 GO:0043235, GO:0016021, GO:0009897, GO:0005886, receptor complex, integral component of membrane, external side of plasma membrane, plasma membrane, GO:1990405, GO:0030246, GO:0023030, GO:0023024, GO:0005515, GO:0004888, protein antigen binding, carbohydrate binding, MHC class Ib protein binding, via antigen binding groove, MHC class I protein complex binding, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0045087, GO:0007166, GO:0002228, regulation of immune response, innate immune response, cell surface receptor signaling pathway, natural killer cell mediated immunity, 47 49 136 168 136 350 135 107 293 ENSG00000134545 chr12 10442264 10454685 - KLRC1 protein_coding Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]. 3821 GO:0043235, GO:0005887, GO:0005886, receptor complex, integral component of plasma membrane, plasma membrane, GO:1990405, GO:0030246, GO:0023024, GO:0005515, GO:0004888, protein antigen binding, carbohydrate binding, MHC class I protein complex binding, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0007166, regulation of immune response, cell surface receptor signaling pathway, 9 3 10 35 7 8 39 9 13 ENSG00000134548 chr12 21526307 21541249 + SPX protein_coding The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]. 80763 GO:0031045, GO:0030133, GO:0005737, GO:0005615, GO:0005615, dense core granule, transport vesicle, cytoplasm, extracellular space, extracellular space, GO:0005515, GO:0005184, GO:0005184, protein binding, neuropeptide hormone activity, neuropeptide hormone activity, GO:1904306, GO:1904306, GO:0051930, GO:0044539, GO:0035814, GO:0032099, GO:0010459, GO:0007165, GO:0003084, positive regulation of gastro-intestinal system smooth muscle contraction, positive regulation of gastro-intestinal system smooth muscle contraction, regulation of sensory perception of pain, long-chain fatty acid import into cell, negative regulation of renal sodium excretion, negative regulation of appetite, negative regulation of heart rate, signal transduction, positive regulation of systemic arterial blood pressure, 0 0 0 0 0 0 0 0 1 ENSG00000134551 chr12 10929236 10932341 + PRH2 protein_coding This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. In western population this locus is commonly biallelic and encodes proline-rich protein (PRP) isoforms, PRP-1 and PRP-2. The reference genome encodes the PRP-1 allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015]. 5555 GO:0005615, extracellular space, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000134569 chr11 46856868 46918642 - LRP4 protein_coding This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]. 4038 GO:0097060, GO:0044853, GO:0043025, GO:0031594, GO:0030425, GO:0016021, GO:0014069, GO:0009986, GO:0009986, GO:0005886, synaptic membrane, plasma membrane raft, neuronal cell body, neuromuscular junction, dendrite, integral component of membrane, postsynaptic density, cell surface, cell surface, plasma membrane, GO:0097110, GO:0042803, GO:0034185, GO:0030971, GO:0005515, GO:0005509, scaffold protein binding, protein homodimerization activity, apolipoprotein binding, receptor tyrosine kinase binding, protein binding, calcium ion binding, GO:1904395, GO:1901631, GO:0150094, GO:0097105, GO:0097104, GO:0090090, GO:0090090, GO:0071340, GO:0060173, GO:0051124, GO:0050808, GO:0050771, GO:0050731, GO:0048813, GO:0042733, GO:0042475, GO:0030279, GO:0016055, GO:0009954, GO:0009953, GO:0006897, GO:0001942, GO:0001822, positive regulation of skeletal muscle acetylcholine-gated channel clustering, positive regulation of presynaptic membrane organization, amyloid-beta clearance by cellular catabolic process, presynaptic membrane assembly, postsynaptic membrane assembly, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, skeletal muscle acetylcholine-gated channel clustering, limb development, synaptic growth at neuromuscular junction, synapse organization, negative regulation of axonogenesis, positive regulation of peptidyl-tyrosine phosphorylation, dendrite morphogenesis, embryonic digit morphogenesis, odontogenesis of dentin-containing tooth, negative regulation of ossification, Wnt signaling pathway, proximal/distal pattern formation, dorsal/ventral pattern formation, endocytosis, hair follicle development, kidney development, 0 0 0 0 0 0 0 0 0 ENSG00000134571 chr11 47331397 47352702 - MYBPC3 protein_coding MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]. 4607 GO:0097512, GO:0031672, GO:0030017, GO:0014705, GO:0005863, GO:0005863, GO:0005829, cardiac myofibril, A band, sarcomere, C zone, striated muscle myosin thick filament, striated muscle myosin thick filament, cytosol, GO:0046872, GO:0042802, GO:0032036, GO:0032036, GO:0031432, GO:0017022, GO:0008307, GO:0005515, GO:0003779, GO:0001671, metal ion binding, identical protein binding, myosin heavy chain binding, myosin heavy chain binding, titin binding, myosin binding, structural constituent of muscle, protein binding, actin binding, ATPase activator activity, GO:0060048, GO:0055010, GO:0032971, GO:0032781, GO:0030049, GO:0007155, GO:0006942, GO:0003007, cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, regulation of muscle filament sliding, positive regulation of ATPase activity, muscle filament sliding, cell adhesion, regulation of striated muscle contraction, heart morphogenesis, 424 279 223 569 410 370 543 322 274 ENSG00000134574 chr11 47214465 47239240 + DDB2 protein_coding This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 1643 GO:0080008, GO:0032991, GO:0031465, GO:0030054, GO:0005654, GO:0005654, GO:0005634, Cul4-RING E3 ubiquitin ligase complex, protein-containing complex, Cul4B-RING E3 ubiquitin ligase complex, cell junction, nucleoplasm, nucleoplasm, nucleus, GO:0044877, GO:0005515, GO:0004842, GO:0003684, GO:0003684, GO:0003677, protein-containing complex binding, protein binding, ubiquitin-protein transferase activity, damaged DNA binding, damaged DNA binding, DNA binding, GO:0070914, GO:0070911, GO:0051865, GO:0043687, GO:0035518, GO:0033683, GO:0016579, GO:0009411, GO:0009411, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006290, GO:0006289, GO:0006281, GO:0000717, GO:0000715, GO:0000209, UV-damage excision repair, global genome nucleotide-excision repair, protein autoubiquitination, post-translational protein modification, histone H2A monoubiquitination, nucleotide-excision repair, DNA incision, protein deubiquitination, response to UV, response to UV, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, pyrimidine dimer repair, nucleotide-excision repair, DNA repair, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, protein polyubiquitination, 46 42 60 100 71 68 66 40 64 ENSG00000134575 chr11 47239302 47248906 - ACP2 protein_coding The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]. 53 GO:0070062, GO:0043202, GO:0016021, GO:0016020, GO:0005765, GO:0005764, GO:0005764, extracellular exosome, lysosomal lumen, integral component of membrane, membrane, lysosomal membrane, lysosome, lysosome, GO:0016791, GO:0005515, GO:0003993, phosphatase activity, protein binding, acid phosphatase activity, GO:0016311, GO:0007040, GO:0001501, dephosphorylation, lysosome organization, skeletal system development, 23 34 38 21 26 14 13 21 18 ENSG00000134588 chrX 133024631 133097109 - USP26 protein_coding This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008]. 83844 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0016579, GO:0016579, GO:0016579, GO:0006511, GO:0000082, protein deubiquitination, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, G1/S transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000134590 chrX 135032366 135033546 + RTL8C protein_coding 8933 68 72 113 55 111 88 43 68 93 ENSG00000134594 chrX 130171649 130184870 + RAB33A protein_coding The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008]. 9363 GO:0005886, GO:0005794, GO:0005768, GO:0000139, plasma membrane, Golgi apparatus, endosome, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0032482, GO:0019882, Rab protein signal transduction, antigen processing and presentation, 19 18 32 10 5 5 3 3 13 ENSG00000134595 chrX 140502985 140505116 - SOX3 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]. 6658 GO:0005654, GO:0005654, GO:0000785, GO:0000785, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060324, GO:0045944, GO:0045665, GO:0030154, GO:0021983, GO:0021854, GO:0009653, GO:0007530, GO:0007423, GO:0007417, GO:0006355, GO:0000122, face development, positive regulation of transcription by RNA polymerase II, negative regulation of neuron differentiation, cell differentiation, pituitary gland development, hypothalamus development, anatomical structure morphogenesis, sex determination, sensory organ development, central nervous system development, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000134597 chrX 130401969 130413343 + RBMX2 protein_coding 51634 GO:0071011, GO:0071005, GO:0005686, GO:0005634, precatalytic spliceosome, U2-type precatalytic spliceosome, U2 snRNP, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 57 63 45 90 62 91 56 70 56 ENSG00000134602 chrX 132023265 132075943 + STK26 protein_coding The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. 51765 GO:0071944, GO:0070062, GO:0048471, GO:0016324, GO:0016020, GO:0012506, GO:0005829, GO:0005829, GO:0005798, GO:0005794, GO:0005737, GO:0000139, cell periphery, extracellular exosome, perinuclear region of cytoplasm, apical plasma membrane, membrane, vesicle membrane, cytosol, cytosol, Golgi-associated vesicle, Golgi apparatus, cytoplasm, Golgi membrane, GO:0106311, GO:0106310, GO:0042803, GO:0042802, GO:0005524, GO:0005515, GO:0004672, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein homodimerization activity, identical protein binding, ATP binding, protein binding, protein kinase activity, protein kinase activity, magnesium ion binding, GO:1903205, GO:0046777, GO:0042981, GO:0042542, GO:0030336, GO:0030033, GO:0009267, GO:0006915, GO:0006468, GO:0006468, regulation of hydrogen peroxide-induced cell death, protein autophosphorylation, regulation of apoptotic process, response to hydrogen peroxide, negative regulation of cell migration, microvillus assembly, cellular response to starvation, apoptotic process, protein phosphorylation, protein phosphorylation, 656 845 950 454 716 754 477 600 568 ENSG00000134612 chr11 89639237 89698718 + FOLH1B transcribed_unprocessed_pseudogene 219595 GO:0070062, GO:0005886, GO:0005886, GO:0005737, extracellular exosome, plasma membrane, plasma membrane, cytoplasm, GO:0046872, GO:0016805, GO:0004181, GO:0004180, metal ion binding, dipeptidase activity, metallocarboxypeptidase activity, carboxypeptidase activity, GO:0035609, GO:0008652, GO:0006508, C-terminal protein deglutamylation, cellular amino acid biosynthetic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000134627 chr11 94543840 94621421 + PIWIL4 protein_coding PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]. 143689 GO:0071547, GO:0043186, GO:0005737, GO:0005737, GO:0005634, GO:0005634, piP-body, P granule, cytoplasm, cytoplasm, nucleus, nucleus, GO:0034584, GO:0034584, GO:0004521, piRNA binding, piRNA binding, endoribonuclease activity, GO:0090502, GO:0051321, GO:0043046, GO:0034587, GO:0031047, GO:0030154, GO:0010669, GO:0010529, GO:0007283, GO:0007275, GO:0006417, RNA phosphodiester bond hydrolysis, endonucleolytic, meiotic cell cycle, DNA methylation involved in gamete generation, piRNA metabolic process, gene silencing by RNA, cell differentiation, epithelial structure maintenance, negative regulation of transposition, spermatogenesis, multicellular organism development, regulation of translation, 23 9 67 28 10 24 36 12 19 ENSG00000134640 chr11 92969720 92985066 + MTNR1B protein_coding This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]. 4544 GO:0045202, GO:0005887, GO:0005886, GO:0005886, synapse, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0008502, GO:0005515, GO:0004930, melatonin receptor activity, protein binding, G protein-coupled receptor activity, GO:1902260, GO:0098908, GO:0097755, GO:0051971, GO:0051970, GO:0051481, GO:0050796, GO:0046676, GO:0046010, GO:0043524, GO:0043010, GO:0042593, GO:0010754, GO:0007268, GO:0007187, GO:0007186, GO:0007186, negative regulation of delayed rectifier potassium channel activity, regulation of neuronal action potential, positive regulation of blood vessel diameter, positive regulation of transmission of nerve impulse, negative regulation of transmission of nerve impulse, negative regulation of cytosolic calcium ion concentration, regulation of insulin secretion, negative regulation of insulin secretion, positive regulation of circadian sleep/wake cycle, non-REM sleep, negative regulation of neuron apoptotic process, camera-type eye development, glucose homeostasis, negative regulation of cGMP-mediated signaling, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000134644 chr1 30931506 31065991 - PUM1 protein_coding This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 9698 GO:0010494, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0000932, cytoplasmic stress granule, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, P-body, GO:0035198, GO:0005515, GO:0003730, GO:0003730, GO:0003729, GO:0003723, GO:0003723, miRNA binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, RNA binding, GO:2000637, GO:1900246, GO:0061157, GO:0060964, GO:0051983, GO:0051726, GO:0048863, GO:0043488, GO:0043488, GO:0035196, GO:0035196, GO:0016441, GO:0010608, GO:0010608, GO:0010608, GO:0008344, GO:0007283, positive regulation of gene silencing by miRNA, positive regulation of RIG-I signaling pathway, mRNA destabilization, regulation of gene silencing by miRNA, regulation of chromosome segregation, regulation of cell cycle, stem cell differentiation, regulation of mRNA stability, regulation of mRNA stability, production of miRNAs involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, posttranscriptional gene silencing, posttranscriptional regulation of gene expression, posttranscriptional regulation of gene expression, posttranscriptional regulation of gene expression, adult locomotory behavior, spermatogenesis, 458 476 541 348 478 432 327 312 365 ENSG00000134668 chr1 31790422 31816051 - SPOCD1 protein_coding This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 90853 GO:0010923, GO:0006351, negative regulation of phosphatase activity, transcription, DNA-templated, 1 0 0 0 1 2 0 0 0 ENSG00000134684 chr1 32775237 32818153 - YARS protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]. 8565 GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005615, nuclear body, cytosol, cytosol, cytoplasm, extracellular space, GO:0005524, GO:0005515, GO:0005153, GO:0004831, GO:0003723, GO:0000049, ATP binding, protein binding, interleukin-8 receptor binding, tyrosine-tRNA ligase activity, RNA binding, tRNA binding, GO:0006915, GO:0006437, GO:0006418, apoptotic process, tyrosyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 82 82 151 204 85 274 187 99 160 ENSG00000134686 chr1 33323623 33431052 - PHC2 protein_coding In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1912 GO:0035102, GO:0035102, GO:0031519, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000792, PRC1 complex, PRC1 complex, PcG protein complex, nucleoplasm, nucleoplasm, nucleus, nucleus, heterochromatin, GO:0042802, GO:0042393, GO:0008270, GO:0005515, GO:0003682, GO:0003677, identical protein binding, histone binding, zinc ion binding, protein binding, chromatin binding, DNA binding, GO:0045892, GO:0007283, GO:0007275, negative regulation of transcription, DNA-templated, spermatogenesis, multicellular organism development, 5257 4706 6335 1820 3282 2295 2301 2971 2319 ENSG00000134690 chr1 37692418 37709719 + CDCA8 protein_coding This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]. 55143 GO:0051233, GO:0045171, GO:0032991, GO:0032133, GO:0032133, GO:0030496, GO:0010369, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0000775, GO:0000775, spindle midzone, intercellular bridge, protein-containing complex, chromosome passenger complex, chromosome passenger complex, midbody, chromocenter, cytosol, nucleolus, nucleoplasm, nucleoplasm, chromosome, centromeric region, chromosome, centromeric region, GO:0005515, protein binding, GO:0051301, GO:0051276, GO:0007080, GO:0000070, cell division, chromosome organization, mitotic metaphase plate congression, mitotic sister chromatid segregation, 30 35 30 5 23 20 9 23 16 ENSG00000134697 chr1 37566816 37595935 - GNL2 protein_coding 29889 GO:0016020, GO:0005730, GO:0005730, GO:0005634, membrane, nucleolus, nucleolus, nucleus, GO:0005525, GO:0003924, GO:0003723, GTP binding, GTPase activity, RNA binding, GO:0042254, GO:0008150, ribosome biogenesis, biological_process, 201 234 268 624 513 523 397 269 272 ENSG00000134698 chr1 35808172 35857890 + AGO4 protein_coding This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related family members. [provided by RefSeq, Mar 2017]. 192670 GO:0070578, GO:0016442, GO:0016020, GO:0005829, GO:0005737, GO:0005634, GO:0000932, RISC-loading complex, RISC complex, membrane, cytosol, cytoplasm, nucleus, P-body, GO:0035198, GO:0005515, GO:0003727, GO:0003725, miRNA binding, protein binding, single-stranded RNA binding, double-stranded RNA binding, GO:0090625, GO:0045652, GO:0043066, GO:0035280, GO:0035279, GO:0035278, GO:0035196, GO:0035194, GO:0031054, GO:0022604, GO:0010629, GO:0010628, GO:0010586, GO:0010501, GO:0010501, GO:0008584, GO:0007223, GO:0007140, GO:0007130, GO:0006402, mRNA cleavage involved in gene silencing by siRNA, regulation of megakaryocyte differentiation, negative regulation of apoptotic process, miRNA loading onto RISC involved in gene silencing by miRNA, mRNA cleavage involved in gene silencing by miRNA, miRNA mediated inhibition of translation, production of miRNAs involved in gene silencing by miRNA, post-transcriptional gene silencing by RNA, pre-miRNA processing, regulation of cell morphogenesis, negative regulation of gene expression, positive regulation of gene expression, miRNA metabolic process, RNA secondary structure unwinding, RNA secondary structure unwinding, male gonad development, Wnt signaling pathway, calcium modulating pathway, male meiotic nuclear division, synaptonemal complex assembly, mRNA catabolic process, 4226 4298 4819 2208 3699 2650 2590 2797 2548 ENSG00000134709 chr1 59814786 59876378 + HOOK1 protein_coding This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. 51361 GO:0070695, GO:0030897, GO:0005874, GO:0005829, GO:0005813, GO:0005737, GO:0005737, FHF complex, HOPS complex, microtubule, cytosol, centrosome, cytoplasm, cytoplasm, GO:0051959, GO:0042802, GO:0008017, GO:0005515, GO:0003779, dynein light intermediate chain binding, identical protein binding, microtubule binding, protein binding, actin binding, GO:1905198, GO:0045022, GO:0031122, GO:0030705, GO:0015031, GO:0008333, GO:0007275, GO:0007040, GO:0007032, GO:0007030, manchette assembly, early endosome to late endosome transport, cytoplasmic microtubule organization, cytoskeleton-dependent intracellular transport, protein transport, endosome to lysosome transport, multicellular organism development, lysosome organization, endosome organization, Golgi organization, 23 6 33 56 9 25 61 14 20 ENSG00000134716 chr1 59893308 59926790 - CYP2J2 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]. 1573 GO:0070062, GO:0043231, GO:0005789, GO:0005737, extracellular exosome, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0106255, GO:0071614, GO:0020037, GO:0016853, GO:0016712, GO:0008405, GO:0008404, GO:0008395, GO:0008392, GO:0005506, hydroperoxy icosatetraenoate isomerase activity, linoleic acid epoxygenase activity, heme binding, isomerase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, arachidonic acid 11,12-epoxygenase activity, arachidonic acid 14,15-epoxygenase activity, steroid hydroxylase activity, arachidonic acid epoxygenase activity, iron ion binding, GO:0055114, GO:0043651, GO:0042738, GO:0019373, GO:0019373, GO:0008016, GO:0006805, GO:0006805, GO:0006690, GO:0006082, oxidation-reduction process, linoleic acid metabolic process, exogenous drug catabolic process, epoxygenase P450 pathway, epoxygenase P450 pathway, regulation of heart contraction, xenobiotic metabolic process, xenobiotic metabolic process, icosanoid metabolic process, organic acid metabolic process, 1 0 0 0 3 0 0 0 0 ENSG00000134717 chr1 52056125 52090716 + BTF3L4 protein_coding 91408 GO:0005515, protein binding, 161 213 179 136 152 172 93 168 121 ENSG00000134744 chr1 52408282 52553487 - TUT4 protein_coding ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]. 23318 GO:0070062, GO:0036464, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005634, GO:0005615, extracellular exosome, cytoplasmic ribonucleoprotein granule, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, nucleus, extracellular space, GO:0050265, GO:0050265, GO:0035198, GO:0016779, GO:0008270, GO:0005515, GO:0004652, GO:0003723, RNA uridylyltransferase activity, RNA uridylyltransferase activity, miRNA binding, nucleotidyltransferase activity, zinc ion binding, protein binding, polynucleotide adenylyltransferase activity, RNA binding, GO:1990074, GO:0071076, GO:0071076, GO:0071044, GO:0031123, GO:0031054, GO:0031054, GO:0031054, GO:0019827, GO:0010587, GO:0010586, GO:0010586, GO:0010526, GO:0006397, GO:0006378, GO:0001556, GO:0000289, polyuridylation-dependent mRNA catabolic process, RNA 3' uridylation, RNA 3' uridylation, histone mRNA catabolic process, RNA 3'-end processing, pre-miRNA processing, pre-miRNA processing, pre-miRNA processing, stem cell population maintenance, miRNA catabolic process, miRNA metabolic process, miRNA metabolic process, negative regulation of transposition, RNA-mediated, mRNA processing, mRNA polyadenylation, oocyte maturation, nuclear-transcribed mRNA poly(A) tail shortening, 565 555 815 619 603 785 746 456 651 ENSG00000134748 chr1 52404564 52420839 + PRPF38A protein_coding 84950 GO:0071011, GO:0071011, GO:0071005, GO:0031965, GO:0005654, GO:0005654, GO:0005634, precatalytic spliceosome, precatalytic spliceosome, U2-type precatalytic spliceosome, nuclear membrane, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0000398, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1069 1029 1200 1258 1459 1650 1337 1108 1363 ENSG00000134755 chr18 31058840 31102522 - DSC2 protein_coding This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 1824 GO:0070062, GO:0031410, GO:0030057, GO:0030057, GO:0016021, GO:0014704, GO:0005912, GO:0005911, GO:0005886, GO:0005886, GO:0001533, extracellular exosome, cytoplasmic vesicle, desmosome, desmosome, integral component of membrane, intercalated disc, adherens junction, cell-cell junction, plasma membrane, plasma membrane, cornified envelope, GO:0086083, GO:0005515, GO:0005509, cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication, protein binding, calcium ion binding, GO:0098911, GO:0098609, GO:0086091, GO:0086073, GO:0086042, GO:0070268, GO:0031424, GO:0009267, GO:0007156, GO:0007155, regulation of ventricular cardiac muscle cell action potential, cell-cell adhesion, regulation of heart rate by cardiac conduction, bundle of His cell-Purkinje myocyte adhesion involved in cell communication, cardiac muscle cell-cardiac muscle cell adhesion, cornification, keratinization, cellular response to starvation, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 1286 443 863 170 172 171 310 173 221 ENSG00000134757 chr18 31447795 31478702 + DSG3 protein_coding This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016]. 1830 GO:0070062, GO:0030057, GO:0016021, GO:0005911, GO:0005886, GO:0005829, GO:0001533, extracellular exosome, desmosome, integral component of membrane, cell-cell junction, plasma membrane, cytosol, cornified envelope, GO:0005509, calcium ion binding, GO:0098609, GO:0070268, GO:0031424, GO:0007156, cell-cell adhesion, cornification, keratinization, homophilic cell adhesion via plasma membrane adhesion molecules, 0 1 0 0 0 0 0 2 0 ENSG00000134758 chr18 32091855 32131561 + RNF138 protein_coding The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 51444 GO:0035861, GO:0035861, GO:0005634, site of double-strand break, site of double-strand break, nucleus, GO:0061630, GO:0061630, GO:0046872, GO:0019901, GO:0005515, GO:0003697, GO:0003697, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein kinase binding, protein binding, single-stranded DNA binding, single-stranded DNA binding, GO:0016567, GO:0016567, GO:0016055, GO:0010792, GO:0010792, GO:0000724, GO:0000724, protein ubiquitination, protein ubiquitination, Wnt signaling pathway, DNA double-strand break processing involved in repair via single-strand annealing, DNA double-strand break processing involved in repair via single-strand annealing, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 1567 1278 1837 1537 1647 2620 1585 1128 2067 ENSG00000134759 chr18 36129444 36180556 + ELP2 protein_coding The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]. 55250 GO:0033588, GO:0033588, GO:0008023, GO:0008023, GO:0005829, GO:0005737, GO:0005654, elongator holoenzyme complex, elongator holoenzyme complex, transcription elongation factor complex, transcription elongation factor complex, cytosol, cytoplasm, nucleoplasm, GO:0019901, GO:0000993, protein kinase binding, RNA polymerase II complex binding, GO:0046425, GO:0006368, GO:0006357, GO:0002098, regulation of receptor signaling pathway via JAK-STAT, transcription elongation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, tRNA wobble uridine modification, 94 77 152 169 82 167 157 71 157 ENSG00000134760 chr18 31318089 31357029 + DSG1 protein_coding This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]. 1828 GO:0101003, GO:0030057, GO:0030057, GO:0016328, GO:0016324, GO:0016021, GO:0009898, GO:0005911, GO:0005886, GO:0005829, GO:0001533, ficolin-1-rich granule membrane, desmosome, desmosome, lateral plasma membrane, apical plasma membrane, integral component of membrane, cytoplasmic side of plasma membrane, cell-cell junction, plasma membrane, cytosol, cornified envelope, GO:0045295, GO:0045295, GO:0015643, GO:0005515, GO:0005509, GO:0005509, gamma-catenin binding, gamma-catenin binding, toxic substance binding, protein binding, calcium ion binding, calcium ion binding, GO:0098609, GO:0098609, GO:0070268, GO:0060135, GO:0050821, GO:0043312, GO:0032570, GO:0031424, GO:0016339, GO:0007156, GO:0007043, cell-cell adhesion, cell-cell adhesion, cornification, maternal process involved in female pregnancy, protein stabilization, neutrophil degranulation, response to progesterone, keratinization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, 0 0 0 0 0 0 0 0 0 ENSG00000134762 chr18 30990008 31042815 - DSC3 protein_coding The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 1825 GO:0030057, GO:0030054, GO:0016021, GO:0016020, GO:0005911, GO:0005886, GO:0005886, GO:0005737, GO:0005576, GO:0001533, desmosome, cell junction, integral component of membrane, membrane, cell-cell junction, plasma membrane, plasma membrane, cytoplasm, extracellular region, cornified envelope, GO:0045295, GO:0005509, gamma-catenin binding, calcium ion binding, GO:0098609, GO:0070268, GO:0031424, GO:0007156, GO:0007155, GO:0001701, cell-cell adhesion, cornification, keratinization, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, in utero embryonic development, 0 0 0 0 0 0 1 0 0 ENSG00000134765 chr18 31129236 31162856 - DSC1 protein_coding The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]. 1823 GO:0101003, GO:0070062, GO:0030057, GO:0016021, GO:0016020, GO:0005921, GO:0005911, GO:0005886, GO:0001533, ficolin-1-rich granule membrane, extracellular exosome, desmosome, integral component of membrane, membrane, gap junction, cell-cell junction, plasma membrane, cornified envelope, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0098609, GO:0070268, GO:0043312, GO:0031424, GO:0007156, cell-cell adhesion, cornification, neutrophil degranulation, keratinization, homophilic cell adhesion via plasma membrane adhesion molecules, 0 5 5 6 2 3 0 2 1 ENSG00000134769 chr18 34493290 34891844 + DTNA protein_coding The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 1837 GO:0045202, GO:0042383, GO:0032991, GO:0031234, GO:0030424, GO:0005886, GO:0005737, synapse, sarcolemma, protein-containing complex, extrinsic component of cytoplasmic side of plasma membrane, axon, plasma membrane, cytoplasm, GO:0030165, GO:0008270, GO:0005515, PDZ domain binding, zinc ion binding, protein binding, GO:0099536, GO:0007274, GO:0007268, GO:0007165, GO:0006941, synaptic signaling, neuromuscular synaptic transmission, chemical synaptic transmission, signal transduction, striated muscle contraction, 0 0 0 0 3 0 0 0 0 ENSG00000134775 chr18 36297714 36780055 + FHOD3 protein_coding The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]. 80206 GO:0030018, GO:0005865, GO:0005856, GO:0005737, Z disc, striated muscle thin filament, cytoskeleton, cytoplasm, GO:0051015, GO:0005515, actin filament binding, protein binding, GO:0055003, GO:0051639, GO:0045214, GO:0030866, GO:0030837, cardiac myofibril assembly, actin filament network formation, sarcomere organization, cortical actin cytoskeleton organization, negative regulation of actin filament polymerization, 3 0 5 2 4 4 1 0 6 ENSG00000134779 chr18 36777647 36829216 - TPGS2 protein_coding This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]. 25941 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0005515, protein binding, GO:0018095, protein polyglutamylation, 70 141 85 94 109 133 65 95 90 ENSG00000134780 chr11 61680433 61747001 + DAGLA protein_coding This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]. 747 GO:0099055, GO:0098839, GO:0045211, GO:0043196, GO:0032591, GO:0032590, GO:0031901, GO:0005886, integral component of postsynaptic membrane, postsynaptic density membrane, postsynaptic membrane, varicosity, dendritic spine membrane, dendrite membrane, early endosome membrane, plasma membrane, GO:0046872, GO:0016787, GO:0005515, metal ion binding, hydrolase activity, protein binding, GO:0150077, GO:0098921, GO:0098921, GO:0098921, GO:0071926, GO:0046340, GO:0046340, GO:0042136, GO:0042136, GO:0022008, GO:0019369, GO:0007405, GO:0007216, regulation of neuroinflammatory response, retrograde trans-synaptic signaling by endocannabinoid, retrograde trans-synaptic signaling by endocannabinoid, retrograde trans-synaptic signaling by endocannabinoid, endocannabinoid signaling pathway, diacylglycerol catabolic process, diacylglycerol catabolic process, neurotransmitter biosynthetic process, neurotransmitter biosynthetic process, neurogenesis, arachidonic acid metabolic process, neuroblast proliferation, G protein-coupled glutamate receptor signaling pathway, 2 1 7 0 8 8 0 0 5 ENSG00000134802 chr11 57406954 57427580 - SLC43A3 protein_coding 29015 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0022857, GO:0005515, GO:0003674, transmembrane transporter activity, protein binding, molecular_function, GO:0055085, GO:0008150, transmembrane transport, biological_process, 22 53 61 62 64 95 75 46 78 ENSG00000134809 chr11 57528463 57530803 - TIMM10 protein_coding The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]. 26519 GO:0042719, GO:0005758, GO:0005744, GO:0005743, GO:0005743, GO:0005743, GO:0005739, mitochondrial intermembrane space protein transporter complex, mitochondrial intermembrane space, TIM23 mitochondrial import inner membrane translocase complex, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0140318, GO:0051087, GO:0042803, GO:0008270, GO:0005515, protein transporter activity, chaperone binding, protein homodimerization activity, zinc ion binding, protein binding, GO:0072321, GO:0045039, GO:0045039, GO:0045039, GO:0007605, GO:0006626, chaperone-mediated protein transport, protein insertion into mitochondrial inner membrane, protein insertion into mitochondrial inner membrane, protein insertion into mitochondrial inner membrane, sensory perception of sound, protein targeting to mitochondrion, 26 11 31 38 54 87 46 28 45 ENSG00000134812 chr11 59829268 59845501 - GIF protein_coding This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]. 2694 GO:0043202, GO:0016324, GO:0005902, GO:0005768, GO:0005768, GO:0005615, GO:0005615, GO:0005576, lysosomal lumen, apical plasma membrane, microvillus, endosome, endosome, extracellular space, extracellular space, extracellular region, GO:0031419, GO:0031419, GO:0005515, cobalamin binding, cobalamin binding, protein binding, GO:0015889, GO:0015889, GO:0009235, GO:0006824, cobalamin transport, cobalamin transport, cobalamin metabolic process, cobalt ion transport, 2 5 3 4 7 2 2 1 10 ENSG00000134815 chr19 47349281 47382704 + DHX34 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]. 9704 GO:0016020, GO:0005622, membrane, intracellular anatomical structure, GO:0005524, GO:0003724, GO:0003723, GO:0003723, ATP binding, RNA helicase activity, RNA binding, RNA binding, GO:2000623, GO:0000956, GO:0000184, negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 4110 4233 4336 3010 3343 2718 3158 2217 2486 ENSG00000134817 chr11 57233577 57237314 - APLNR protein_coding This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]. 187 GO:0005887, GO:0005886, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0060182, GO:0038023, GO:0005515, GO:0004930, apelin receptor activity, signaling receptor activity, protein binding, G protein-coupled receptor activity, GO:1904325, GO:1903589, GO:0060976, GO:0060183, GO:0051281, GO:0050878, GO:0045766, GO:0043951, GO:0043951, GO:0016032, GO:0007512, GO:0007507, GO:0007507, GO:0007369, GO:0007186, GO:0007186, GO:0007186, GO:0001570, GO:0001568, GO:0001525, positive regulation of inhibitory G protein-coupled receptor phosphorylation, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, coronary vasculature development, apelin receptor signaling pathway, positive regulation of release of sequestered calcium ion into cytosol, regulation of body fluid levels, positive regulation of angiogenesis, negative regulation of cAMP-mediated signaling, negative regulation of cAMP-mediated signaling, viral process, adult heart development, heart development, heart development, gastrulation, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, vasculogenesis, blood vessel development, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000134824 chr11 61792980 61867354 + FADS2 protein_coding The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 9415 GO:0016020, GO:0005887, GO:0005789, membrane, integral component of plasma membrane, endoplasmic reticulum membrane, GO:0016213, linoleoyl-CoA desaturase activity, GO:0055114, GO:0043651, GO:0036109, GO:0006636, oxidation-reduction process, linoleic acid metabolic process, alpha-linolenic acid metabolic process, unsaturated fatty acid biosynthetic process, 8 6 12 13 9 1 12 13 15 ENSG00000134825 chr11 61768501 61792802 - TMEM258 protein_coding 746 GO:0043227, GO:0034998, GO:0032991, GO:0016021, GO:0005783, membrane-bounded organelle, oligosaccharyltransferase I complex, protein-containing complex, integral component of membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0006487, protein N-linked glycosylation, 101 117 96 90 126 97 70 146 83 ENSG00000134827 chr11 59852800 59866575 - TCN1 protein_coding This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]. 6947 GO:1904724, GO:0035580, GO:0005615, GO:0005615, GO:0005576, tertiary granule lumen, specific granule lumen, extracellular space, extracellular space, extracellular region, GO:0031419, GO:0005515, cobalamin binding, protein binding, GO:0043312, GO:0015889, GO:0009235, GO:0006824, neutrophil degranulation, cobalamin transport, cobalamin metabolic process, cobalt ion transport, 46 129 103 6 76 41 18 62 31 ENSG00000134830 chr19 47332147 47347327 + C5AR2 protein_coding This gene encodes a G-protein coupled receptor 1 family member involved in the complement system of the innate immune response. Unlike classical G-protein coupled receptors, the encoded protein does not associate with intracellular G-proteins. It may instead modulate signal transduction through the beta-arrestin pathway, and may alternatively act as a decoy receptor. This gene may be involved in coronary artery disease and in the pathogenesis of sepsis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 27202 GO:0045177, GO:0016021, GO:0009925, GO:0005886, GO:0005886, apical part of cell, integral component of membrane, basal plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004930, GO:0004878, GO:0004875, protein binding, G protein-coupled receptor activity, complement component C5a receptor activity, complement receptor activity, GO:0090024, GO:0070374, GO:0050679, GO:0038178, GO:0032720, GO:0032715, GO:0032677, GO:0030449, GO:0007204, GO:0007200, GO:0006954, GO:0006935, GO:0002430, negative regulation of neutrophil chemotaxis, positive regulation of ERK1 and ERK2 cascade, positive regulation of epithelial cell proliferation, complement component C5a signaling pathway, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, regulation of interleukin-8 production, regulation of complement activation, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, inflammatory response, chemotaxis, complement receptor mediated signaling pathway, 5124 4056 5908 726 1276 1246 1202 1135 1102 ENSG00000134851 chr4 55395957 55453397 + TMEM165 protein_coding This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 55858 GO:0043231, GO:0032588, GO:0031902, GO:0031901, GO:0016021, GO:0010008, GO:0005794, GO:0005794, GO:0005765, intracellular membrane-bounded organelle, trans-Golgi network membrane, late endosome membrane, early endosome membrane, integral component of membrane, endosome membrane, Golgi apparatus, Golgi apparatus, lysosomal membrane, GO:0046873, GO:0015085, GO:0005384, metal ion transmembrane transporter activity, calcium ion transmembrane transporter activity, manganese ion transmembrane transporter activity, GO:0071421, GO:0070588, GO:0035751, GO:0032472, GO:0032472, GO:0032468, GO:0006874, GO:0006487, manganese ion transmembrane transport, calcium ion transmembrane transport, regulation of lysosomal lumen pH, Golgi calcium ion transport, Golgi calcium ion transport, Golgi calcium ion homeostasis, cellular calcium ion homeostasis, protein N-linked glycosylation, 498 308 757 539 466 722 568 328 527 ENSG00000134852 chr4 55427903 55547138 - CLOCK protein_coding The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 9575 GO:1990513, GO:0043231, GO:0033391, GO:0005829, GO:0005694, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, CLOCK-BMAL transcription complex, intracellular membrane-bounded organelle, chromatoid body, cytosol, chromosome, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0070888, GO:0070888, GO:0046983, GO:0043565, GO:0031490, GO:0005515, GO:0004402, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, E-box binding, protein dimerization activity, sequence-specific DNA binding, chromatin DNA binding, protein binding, histone acetyltransferase activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000323, GO:2000074, GO:0071479, GO:0051775, GO:0051092, GO:0050796, GO:0050729, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0043161, GO:0042752, GO:0042634, GO:0032922, GO:0032922, GO:0032922, GO:0032922, GO:0016573, GO:0009648, GO:0007623, GO:0007283, GO:0007165, GO:0006473, GO:0006357, GO:0006355, GO:0000077, negative regulation of glucocorticoid receptor signaling pathway, regulation of type B pancreatic cell development, cellular response to ionizing radiation, response to redox state, positive regulation of NF-kappaB transcription factor activity, regulation of insulin secretion, positive regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of circadian rhythm, regulation of hair cycle, circadian regulation of gene expression, circadian regulation of gene expression, circadian regulation of gene expression, circadian regulation of gene expression, histone acetylation, photoperiodism, circadian rhythm, spermatogenesis, signal transduction, protein acetylation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, DNA damage checkpoint, 40 12 36 87 26 57 71 21 67 ENSG00000134853 chr4 54229097 54298247 + PDGFRA protein_coding This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]. 5156 GO:0043235, GO:0032991, GO:0031226, GO:0030054, GO:0016020, GO:0009897, GO:0005929, GO:0005902, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005737, GO:0005654, GO:0005634, receptor complex, protein-containing complex, intrinsic component of plasma membrane, cell junction, membrane, external side of plasma membrane, cilium, microvillus, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, GO:0048407, GO:0048407, GO:0048407, GO:0044877, GO:0042803, GO:0038085, GO:0019838, GO:0005524, GO:0005515, GO:0005161, GO:0005021, GO:0005018, GO:0005018, GO:0005018, GO:0004714, GO:0004714, GO:0004672, platelet-derived growth factor binding, platelet-derived growth factor binding, platelet-derived growth factor binding, protein-containing complex binding, protein homodimerization activity, vascular endothelial growth factor binding, growth factor binding, ATP binding, protein binding, platelet-derived growth factor receptor binding, vascular endothelial growth factor-activated receptor activity, platelet-derived growth factor alpha-receptor activity, platelet-derived growth factor alpha-receptor activity, platelet-derived growth factor alpha-receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein kinase activity, GO:2000739, GO:2000249, GO:0072277, GO:0071230, GO:0070527, GO:0070374, GO:0061298, GO:0060326, GO:0060325, GO:0060021, GO:0055003, GO:0051897, GO:0050920, GO:0048704, GO:0048701, GO:0048701, GO:0048557, GO:0048146, GO:0048015, GO:0048008, GO:0046777, GO:0043552, GO:0042475, GO:0042060, GO:0038091, GO:0035790, GO:0034614, GO:0033674, GO:0033327, GO:0030539, GO:0030335, GO:0030335, GO:0030325, GO:0030324, GO:0030198, GO:0023019, GO:0018108, GO:0016032, GO:0014068, GO:0010863, GO:0010544, GO:0008284, GO:0008284, GO:0008210, GO:0007275, GO:0007204, GO:0007169, GO:0002244, GO:0001775, GO:0001701, GO:0001553, GO:0000165, regulation of mesenchymal stem cell differentiation, regulation of actin cytoskeleton reorganization, metanephric glomerular capillary formation, cellular response to amino acid stimulus, platelet aggregation, positive regulation of ERK1 and ERK2 cascade, retina vasculature development in camera-type eye, cell chemotaxis, face morphogenesis, roof of mouth development, cardiac myofibril assembly, positive regulation of protein kinase B signaling, regulation of chemotaxis, embryonic skeletal system morphogenesis, embryonic cranial skeleton morphogenesis, embryonic cranial skeleton morphogenesis, embryonic digestive tract morphogenesis, positive regulation of fibroblast proliferation, phosphatidylinositol-mediated signaling, platelet-derived growth factor receptor signaling pathway, protein autophosphorylation, positive regulation of phosphatidylinositol 3-kinase activity, odontogenesis of dentin-containing tooth, wound healing, positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway, platelet-derived growth factor receptor-alpha signaling pathway, cellular response to reactive oxygen species, positive regulation of kinase activity, Leydig cell differentiation, male genitalia development, positive regulation of cell migration, positive regulation of cell migration, adrenal gland development, lung development, extracellular matrix organization, signal transduction involved in regulation of gene expression, peptidyl-tyrosine phosphorylation, viral process, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phospholipase C activity, negative regulation of platelet activation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, estrogen metabolic process, multicellular organism development, positive regulation of cytosolic calcium ion concentration, transmembrane receptor protein tyrosine kinase signaling pathway, hematopoietic progenitor cell differentiation, cell activation, in utero embryonic development, luteinization, MAPK cascade, 1 0 0 0 0 0 0 0 0 ENSG00000134864 chr13 100530164 100589528 - GGACT protein_coding The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010]. 87769 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0061929, GO:0005515, gamma-glutamylaminecyclotransferase activity, protein binding, GO:0042219, cellular modified amino acid catabolic process, 13 2 6 27 7 18 31 7 12 ENSG00000134871 chr13 110305812 110513209 + COL4A2 protein_coding This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]. 1284 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005587, GO:0005587, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type IV trimer, collagen type IV trimer, extracellular region, GO:0030020, GO:0030020, GO:0030020, GO:0005515, GO:0005201, GO:0005201, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0071560, GO:0038063, GO:0035987, GO:0030198, GO:0030198, GO:0030198, GO:0016525, GO:0014823, GO:0007568, GO:0006351, GO:0001525, cellular response to transforming growth factor beta stimulus, collagen-activated tyrosine kinase receptor signaling pathway, endodermal cell differentiation, extracellular matrix organization, extracellular matrix organization, extracellular matrix organization, negative regulation of angiogenesis, response to activity, aging, transcription, DNA-templated, angiogenesis, 6 2 3 1 9 7 11 6 4 ENSG00000134873 chr13 95433604 95579759 + CLDN10 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010]. 9071 GO:0016021, GO:0005923, GO:0005923, GO:0005886, GO:0005886, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:0070830, GO:0043269, GO:0016338, GO:0007155, GO:0006811, bicellular tight junction assembly, regulation of ion transport, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, ion transport, 12 6 4 1 0 3 5 6 6 ENSG00000134874 chr13 95578202 95644703 - DZIP1 protein_coding 22873 GO:0097539, GO:0036064, GO:0036064, GO:0034451, GO:0005829, GO:0005814, GO:0005737, GO:0005737, GO:0005654, GO:0005634, ciliary transition fiber, ciliary basal body, ciliary basal body, centriolar satellite, cytosol, centriole, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0061512, GO:0060271, GO:0060271, GO:0051220, GO:0045724, GO:0045184, GO:0043393, GO:0007283, GO:0007281, GO:0007275, GO:0007224, protein localization to cilium, cilium assembly, cilium assembly, cytoplasmic sequestering of protein, positive regulation of cilium assembly, establishment of protein localization, regulation of protein binding, spermatogenesis, germ cell development, multicellular organism development, smoothened signaling pathway, 3 5 0 2 1 0 0 0 0 ENSG00000134882 chr13 99200774 99386434 + UBAC2 protein_coding 337867 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:1904153, GO:0090090, GO:0070972, GO:0016055, negative regulation of retrograde protein transport, ER to cytosol, negative regulation of canonical Wnt signaling pathway, protein localization to endoplasmic reticulum, Wnt signaling pathway, 376 354 420 267 329 321 301 273 255 ENSG00000134884 chr13 106541673 106568164 - ARGLU1 protein_coding 55082 GO:0005829, GO:0005739, GO:0005739, GO:0005654, GO:0005654, cytosol, mitochondrion, mitochondrion, nucleoplasm, nucleoplasm, GO:0045296, GO:0005515, cadherin binding, protein binding, 2983 2679 4081 3326 3457 4409 3703 2501 3537 ENSG00000134897 chr13 102799049 102841535 + BIVM protein_coding 54841 GO:0005737, GO:0005634, GO:0005615, cytoplasm, nucleus, extracellular space, GO:0005515, protein binding, 8 3 13 9 12 4 8 5 7 ENSG00000134899 chr13 102807146 102876001 + ERCC5 protein_coding This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]. 2073 GO:0005662, GO:0005654, GO:0005634, GO:0005634, GO:0000109, DNA replication factor A complex, nucleoplasm, nucleus, nucleus, nucleotide-excision repair complex, GO:0047485, GO:0046872, GO:0044877, GO:0042803, GO:0005515, GO:0004520, GO:0004520, GO:0004520, GO:0003697, GO:0003697, GO:0003690, GO:0000993, GO:0000405, protein N-terminus binding, metal ion binding, protein-containing complex binding, protein homodimerization activity, protein binding, endodeoxyribonuclease activity, endodeoxyribonuclease activity, endodeoxyribonuclease activity, single-stranded DNA binding, single-stranded DNA binding, double-stranded DNA binding, RNA polymerase II complex binding, bubble DNA binding, GO:0043066, GO:0033683, GO:0010225, GO:0009650, GO:0009411, GO:0009411, GO:0006296, GO:0006295, GO:0006295, GO:0006295, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006283, GO:0006283, negative regulation of apoptotic process, nucleotide-excision repair, DNA incision, response to UV-C, UV protection, response to UV, response to UV, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, 42 36 63 86 56 48 58 51 47 ENSG00000134900 chr13 102597003 102679958 + TPP2 protein_coding This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008]. 7174 GO:0016604, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, nuclear body, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0042802, GO:0008240, GO:0005515, GO:0004252, GO:0004175, identical protein binding, tripeptidyl-peptidase activity, protein binding, serine-type endopeptidase activity, endopeptidase activity, GO:0006508, GO:0000209, proteolysis, protein polyubiquitination, 318 378 538 416 471 547 406 292 365 ENSG00000134901 chr13 102784281 102799007 - KDELC1 protein_coding This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]. 79070 GO:0012505, GO:0005829, GO:0005788, GO:0005654, endomembrane system, cytosol, endoplasmic reticulum lumen, nucleoplasm, GO:0046527, GO:0035252, GO:0035251, glucosyltransferase activity, UDP-xylosyltransferase activity, UDP-glucosyltransferase activity, GO:0018242, protein O-linked glycosylation via serine, 1 0 0 1 0 0 2 0 1 ENSG00000134905 chr13 110641412 110713603 - CARS2 protein_coding This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]. 79587 GO:0005759, GO:0005737, mitochondrial matrix, cytoplasm, GO:0046872, GO:0005524, GO:0004817, metal ion binding, ATP binding, cysteine-tRNA ligase activity, GO:0006423, cysteinyl-tRNA aminoacylation, 991 780 1422 1062 897 1528 1024 724 1162 ENSG00000134909 chr11 128965060 129279324 - ARHGAP32 protein_coding RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]. 9743 GO:0043197, GO:0015629, GO:0014069, GO:0010008, GO:0005938, GO:0005829, GO:0005794, GO:0005794, GO:0005789, GO:0005654, GO:0005654, GO:0001650, GO:0001650, GO:0000139, dendritic spine, actin cytoskeleton, postsynaptic density, endosome membrane, cell cortex, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, nucleoplasm, nucleoplasm, fibrillar center, fibrillar center, Golgi membrane, GO:1901981, GO:0005515, GO:0005096, phosphatidylinositol phosphate binding, protein binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0007264, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, small GTPase mediated signal transduction, 10 9 4 17 13 14 21 10 10 ENSG00000134910 chr11 125591712 125625215 + STT3A protein_coding The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. 3703 GO:0035000, GO:0016021, GO:0016020, GO:0008250, GO:0008250, GO:0005789, oligosaccharyltransferase III complex, integral component of membrane, membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, endoplasmic reticulum membrane, GO:0046872, GO:0005515, GO:0004579, GO:0004579, GO:0004579, metal ion binding, protein binding, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, GO:0043687, GO:0043686, GO:0018279, GO:0018279, GO:0018279, GO:0018279, GO:0006487, post-translational protein modification, co-translational protein modification, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation, 112 107 131 166 134 178 107 97 142 ENSG00000134917 chr11 130404925 130428993 - ADAMTS8 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]. 11095 GO:0062023, GO:0031012, collagen-containing extracellular matrix, extracellular matrix, GO:0009673, GO:0008270, GO:0008237, GO:0008201, GO:0005178, GO:0004222, low-affinity phosphate transmembrane transporter activity, zinc ion binding, metallopeptidase activity, heparin binding, integrin binding, metalloendopeptidase activity, GO:0035435, GO:0030198, GO:0008285, GO:0006508, phosphate ion transmembrane transport, extracellular matrix organization, negative regulation of cell population proliferation, proteolysis, 0 0 2 0 5 5 0 0 0 ENSG00000134940 chr11 125671522 125681123 - ACRV1 protein_coding This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]. 56 GO:0001669, acrosomal vesicle, GO:0005515, protein binding, GO:0007275, multicellular organism development, 0 0 1 0 0 3 0 1 0 ENSG00000134954 chr11 128458761 128587558 - ETS1 protein_coding This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]. 2113 GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0042802, GO:0035035, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, identical protein binding, histone acetyltransferase binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904996, GO:1902895, GO:0070555, GO:0070301, GO:0060055, GO:0051272, GO:0050729, GO:0050728, GO:0048870, GO:0045944, GO:0045893, GO:0045766, GO:0045765, GO:0045648, GO:0044849, GO:0043536, GO:0034616, GO:0032355, GO:0030578, GO:0030154, GO:0021983, GO:0021854, GO:0010715, GO:0010628, GO:0010595, GO:0009612, GO:0008285, GO:0008284, GO:0007565, GO:0006955, GO:0006357, GO:0001666, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of pri-miRNA transcription by RNA polymerase II, response to interleukin-1, cellular response to hydrogen peroxide, angiogenesis involved in wound healing, positive regulation of cellular component movement, positive regulation of inflammatory response, negative regulation of inflammatory response, cell motility, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of angiogenesis, regulation of angiogenesis, positive regulation of erythrocyte differentiation, estrous cycle, positive regulation of blood vessel endothelial cell migration, response to laminar fluid shear stress, response to estradiol, PML body organization, cell differentiation, pituitary gland development, hypothalamus development, regulation of extracellular matrix disassembly, positive regulation of gene expression, positive regulation of endothelial cell migration, response to mechanical stimulus, negative regulation of cell population proliferation, positive regulation of cell population proliferation, female pregnancy, immune response, regulation of transcription by RNA polymerase II, response to hypoxia, 1066 737 2030 2887 1065 3346 2591 1047 2445 ENSG00000134955 chr11 125063067 125090312 + SLC37A2 protein_coding 219855 GO:0070062, GO:0030176, GO:0030176, GO:0005789, extracellular exosome, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0061513, GO:0061513, glucose 6-phosphate:inorganic phosphate antiporter activity, glucose 6-phosphate:inorganic phosphate antiporter activity, GO:0035435, GO:0035435, GO:0015760, GO:0015760, GO:0015760, GO:0008643, phosphate ion transmembrane transport, phosphate ion transmembrane transport, glucose-6-phosphate transport, glucose-6-phosphate transport, glucose-6-phosphate transport, carbohydrate transport, 19 50 39 26 59 42 37 28 19 ENSG00000134962 chr4 39406853 39451536 + KLB protein_coding 152831 GO:0016021, GO:0005886, GO:0005783, integral component of membrane, plasma membrane, endoplasmic reticulum, GO:0017134, GO:0017134, GO:0005515, GO:0005104, GO:0005104, GO:0004553, fibroblast growth factor binding, fibroblast growth factor binding, protein binding, fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0090080, GO:0051897, GO:0008543, GO:0008543, GO:0008284, GO:0005975, GO:0000165, positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway, positive regulation of protein kinase B signaling, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, carbohydrate metabolic process, MAPK cascade, 0 2 0 1 2 10 3 3 15 ENSG00000134970 chr5 115613508 115632992 - TMED7 protein_coding 51014 GO:0033116, GO:0030134, GO:0030133, GO:0030127, GO:0030126, GO:0016021, GO:0005794, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005783, GO:0005783, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, transport vesicle, COPII vesicle coat, COPI vesicle coat, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0007030, GO:0006890, GO:0006888, GO:0006888, GO:0006886, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 324 394 341 164 241 195 134 231 144 ENSG00000134982 chr5 112707498 112846239 + APC protein_coding This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Dec 2019]. 324 GO:1990909, GO:0048471, GO:0032587, GO:0030877, GO:0030877, GO:0030027, GO:0016342, GO:0016342, GO:0016328, GO:0005923, GO:0005912, GO:0005886, GO:0005886, GO:0005881, GO:0005874, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0000776, Wnt signalosome, perinuclear region of cytoplasm, ruffle membrane, beta-catenin destruction complex, beta-catenin destruction complex, lamellipodium, catenin complex, catenin complex, lateral plasma membrane, bicellular tight junction, adherens junction, plasma membrane, plasma membrane, cytoplasmic microtubule, microtubule, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, kinetochore, GO:0070840, GO:0051010, GO:0045296, GO:0045295, GO:0045295, GO:0031625, GO:0019901, GO:0019887, GO:0008017, GO:0008017, GO:0008013, GO:0008013, GO:0008013, GO:0005515, dynein complex binding, microtubule plus-end binding, cadherin binding, gamma-catenin binding, gamma-catenin binding, ubiquitin protein ligase binding, protein kinase binding, protein kinase regulator activity, microtubule binding, microtubule binding, beta-catenin binding, beta-catenin binding, beta-catenin binding, protein binding, GO:1904886, GO:1904885, GO:1904781, GO:0120162, GO:0090090, GO:0090090, GO:0090090, GO:0090090, GO:0090090, GO:0070830, GO:0065003, GO:0051988, GO:0051988, GO:0045736, GO:0045732, GO:0045732, GO:0045732, GO:0045595, GO:0043065, GO:0032886, GO:0031274, GO:0030335, GO:0016579, GO:0016477, GO:0016477, GO:0016055, GO:0010942, GO:0008286, GO:0008285, GO:0007399, GO:0007389, GO:0007155, GO:0007094, GO:0007050, GO:0007026, GO:0007026, GO:0007026, GO:0006974, GO:0001708, GO:0000281, beta-catenin destruction complex disassembly, beta-catenin destruction complex assembly, positive regulation of protein localization to centrosome, positive regulation of cold-induced thermogenesis, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, bicellular tight junction assembly, protein-containing complex assembly, regulation of attachment of spindle microtubules to kinetochore, regulation of attachment of spindle microtubules to kinetochore, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of protein catabolic process, positive regulation of protein catabolic process, positive regulation of protein catabolic process, regulation of cell differentiation, positive regulation of apoptotic process, regulation of microtubule-based process, positive regulation of pseudopodium assembly, positive regulation of cell migration, protein deubiquitination, cell migration, cell migration, Wnt signaling pathway, positive regulation of cell death, insulin receptor signaling pathway, negative regulation of cell population proliferation, nervous system development, pattern specification process, cell adhesion, mitotic spindle assembly checkpoint, cell cycle arrest, negative regulation of microtubule depolymerization, negative regulation of microtubule depolymerization, negative regulation of microtubule depolymerization, cellular response to DNA damage stimulus, cell fate specification, mitotic cytokinesis, 1604 1487 1846 1090 1679 1273 1165 1158 928 ENSG00000134986 chr5 111662621 111997464 - NREP protein_coding 9315 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0045664, GO:0031103, GO:0017015, regulation of neuron differentiation, axon regeneration, regulation of transforming growth factor beta receptor signaling pathway, 2 4 0 10 9 11 7 5 12 ENSG00000134987 chr5 111091716 111130502 + WDR36 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]. 134430 GO:0034388, GO:0032040, GO:0005730, GO:0005654, Pwp2p-containing subcomplex of 90S preribosome, small-subunit processome, nucleolus, nucleoplasm, GO:0003723, RNA binding, GO:0050896, GO:0030516, GO:0008150, GO:0007601, GO:0006364, GO:0006364, GO:0001895, response to stimulus, regulation of axon extension, biological_process, visual perception, rRNA processing, rRNA processing, retina homeostasis, 47 14 74 70 12 72 37 25 39 ENSG00000134996 chr9 75088543 75147265 + OSTF1 protein_coding Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008]. 26578 GO:1904813, GO:0034774, GO:0005622, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, secretory granule lumen, intracellular anatomical structure, extracellular region, extracellular region, GO:0017124, GO:0005515, SH3 domain binding, protein binding, GO:0043312, GO:0007165, GO:0001503, neutrophil degranulation, signal transduction, ossification, 2389 2161 2671 732 1440 1280 1011 1525 1071 ENSG00000135002 chr9 76385517 76394517 - RFK protein_coding Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]. 55312 GO:0005829, GO:0005739, GO:0005737, cytosol, mitochondrion, cytoplasm, GO:0046872, GO:0008531, GO:0008531, GO:0005524, GO:0005515, metal ion binding, riboflavin kinase activity, riboflavin kinase activity, ATP binding, protein binding, GO:0072593, GO:0033864, GO:0016310, GO:0009398, GO:0009398, GO:0009231, GO:0006915, GO:0006771, GO:0006771, reactive oxygen species metabolic process, positive regulation of NAD(P)H oxidase activity, phosphorylation, FMN biosynthetic process, FMN biosynthetic process, riboflavin biosynthetic process, apoptotic process, riboflavin metabolic process, riboflavin metabolic process, 27 23 39 37 19 43 25 29 39 ENSG00000135018 chr9 83659963 83708203 - UBQLN1 protein_coding This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 29979 GO:0048471, GO:0048471, GO:0032991, GO:0031410, GO:0016235, GO:0005886, GO:0005829, GO:0005829, GO:0005783, GO:0005776, GO:0005776, GO:0005737, GO:0005737, GO:0005654, GO:0000502, perinuclear region of cytoplasm, perinuclear region of cytoplasm, protein-containing complex, cytoplasmic vesicle, aggresome, plasma membrane, cytosol, cytosol, endoplasmic reticulum, autophagosome, autophagosome, cytoplasm, cytoplasm, nucleoplasm, proteasome complex, GO:0042802, GO:0031593, GO:0031593, GO:0019900, GO:0005515, identical protein binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, kinase binding, protein binding, GO:1903071, GO:1902175, GO:1901340, GO:0097352, GO:0071456, GO:0035973, GO:0034976, GO:0034140, GO:0031398, GO:0031396, GO:0030433, GO:0030433, GO:0016241, GO:0016236, GO:0006511, GO:0000045, GO:0000045, positive regulation of ER-associated ubiquitin-dependent protein catabolic process, regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, negative regulation of store-operated calcium channel activity, autophagosome maturation, cellular response to hypoxia, aggrephagy, response to endoplasmic reticulum stress, negative regulation of toll-like receptor 3 signaling pathway, positive regulation of protein ubiquitination, regulation of protein ubiquitination, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, regulation of macroautophagy, macroautophagy, ubiquitin-dependent protein catabolic process, autophagosome assembly, autophagosome assembly, 1253 1194 1613 652 812 890 722 698 730 ENSG00000135040 chr9 85941146 86022298 + NAA35 protein_coding 60560 GO:0031417, GO:0031417, GO:0005844, GO:0005737, GO:0005737, NatC complex, NatC complex, polysome, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0048659, GO:0043066, GO:0017196, GO:0006474, smooth muscle cell proliferation, negative regulation of apoptotic process, N-terminal peptidyl-methionine acetylation, N-terminal protein amino acid acetylation, 49 57 101 73 39 84 66 28 90 ENSG00000135045 chr9 74946581 74952886 - C9orf40 protein_coding 55071 54 83 106 30 33 47 33 43 31 ENSG00000135046 chr9 73151757 73170393 + ANXA1 protein_coding This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]. 301 GO:0097060, GO:0070062, GO:0070062, GO:0062023, GO:0042629, GO:0042383, GO:0032991, GO:0031982, GO:0031966, GO:0031901, GO:0031514, GO:0031313, GO:0031232, GO:0030659, GO:0019898, GO:0016328, GO:0016324, GO:0016323, GO:0009986, GO:0005925, GO:0005912, GO:0005886, GO:0005886, GO:0005884, GO:0005829, GO:0005768, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0001891, GO:0001533, synaptic membrane, extracellular exosome, extracellular exosome, collagen-containing extracellular matrix, mast cell granule, sarcolemma, protein-containing complex, vesicle, mitochondrial membrane, early endosome membrane, motile cilium, extrinsic component of endosome membrane, extrinsic component of external side of plasma membrane, cytoplasmic vesicle membrane, extrinsic component of membrane, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, cell surface, focal adhesion, adherens junction, plasma membrane, plasma membrane, actin filament, cytosol, endosome, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, phagocytic cup, cornified envelope, GO:1990814, GO:0098641, GO:0048306, GO:0042802, GO:0036121, GO:0019834, GO:0019834, GO:0005544, GO:0005544, GO:0005543, GO:0005515, GO:0005509, GO:0005509, GO:0005102, GO:0003727, GO:0003697, DNA/DNA annealing activity, cadherin binding involved in cell-cell adhesion, calcium-dependent protein binding, identical protein binding, double-stranded DNA helicase activity, phospholipase A2 inhibitor activity, phospholipase A2 inhibitor activity, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, phospholipid binding, protein binding, calcium ion binding, calcium ion binding, signaling receptor binding, single-stranded RNA binding, single-stranded DNA binding, GO:1900138, GO:1900087, GO:0098609, GO:0097350, GO:0097350, GO:0090303, GO:0090303, GO:0090050, GO:0090050, GO:0071621, GO:0071621, GO:0071385, GO:0071385, GO:0070555, GO:0070459, GO:0070365, GO:0070301, GO:0050727, GO:0050727, GO:0050709, GO:0050482, GO:0046883, GO:0046883, GO:0046632, GO:0046632, GO:0045920, GO:0045920, GO:0045629, GO:0045629, GO:0045627, GO:0045627, GO:0045087, GO:0044849, GO:0043434, GO:0043066, GO:0042493, GO:0042102, GO:0042102, GO:0042063, GO:0035924, GO:0035924, GO:0033031, GO:0032743, GO:0032743, GO:0032717, GO:0032652, GO:0032652, GO:0032508, GO:0032355, GO:0031532, GO:0031532, GO:0031394, GO:0031340, GO:0031340, GO:0031018, GO:0030850, GO:0030216, GO:0030216, GO:0030073, GO:0019221, GO:0018149, GO:0014839, GO:0010165, GO:0008360, GO:0008360, GO:0007187, GO:0007187, GO:0007186, GO:0007166, GO:0007165, GO:0006954, GO:0006954, GO:0006909, GO:0002685, GO:0002685, GO:0002548, GO:0002250, GO:0001780, negative regulation of phospholipase A2 activity, positive regulation of G1/S transition of mitotic cell cycle, cell-cell adhesion, neutrophil clearance, neutrophil clearance, positive regulation of wound healing, positive regulation of wound healing, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, granulocyte chemotaxis, granulocyte chemotaxis, cellular response to glucocorticoid stimulus, cellular response to glucocorticoid stimulus, response to interleukin-1, prolactin secretion, hepatocyte differentiation, cellular response to hydrogen peroxide, regulation of inflammatory response, regulation of inflammatory response, negative regulation of protein secretion, arachidonic acid secretion, regulation of hormone secretion, regulation of hormone secretion, alpha-beta T cell differentiation, alpha-beta T cell differentiation, negative regulation of exocytosis, negative regulation of exocytosis, negative regulation of T-helper 2 cell differentiation, negative regulation of T-helper 2 cell differentiation, positive regulation of T-helper 1 cell differentiation, positive regulation of T-helper 1 cell differentiation, innate immune response, estrous cycle, response to peptide hormone, negative regulation of apoptotic process, response to drug, positive regulation of T cell proliferation, positive regulation of T cell proliferation, gliogenesis, cellular response to vascular endothelial growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, positive regulation of neutrophil apoptotic process, positive regulation of interleukin-2 production, positive regulation of interleukin-2 production, negative regulation of interleukin-8 production, regulation of interleukin-1 production, regulation of interleukin-1 production, DNA duplex unwinding, response to estradiol, actin cytoskeleton reorganization, actin cytoskeleton reorganization, positive regulation of prostaglandin biosynthetic process, positive regulation of vesicle fusion, positive regulation of vesicle fusion, endocrine pancreas development, prostate gland development, keratinocyte differentiation, keratinocyte differentiation, insulin secretion, cytokine-mediated signaling pathway, peptide cross-linking, myoblast migration involved in skeletal muscle regeneration, response to X-ray, regulation of cell shape, regulation of cell shape, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, inflammatory response, inflammatory response, phagocytosis, regulation of leukocyte migration, regulation of leukocyte migration, monocyte chemotaxis, adaptive immune response, neutrophil homeostasis, 1174 1654 1919 948 925 1423 853 892 934 ENSG00000135047 chr9 87725519 87731393 + CTSL protein_coding The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Additionally, this protein cleaves the S1 subunit of the SARS-CoV-2 spike protein, which is necessary for entry of the virus into the cell. [provided by RefSeq, Aug 2020]. 1514 GO:0070062, GO:0062023, GO:0043202, GO:0042583, GO:0036021, GO:0016324, GO:0005886, GO:0005771, GO:0005764, GO:0005764, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, lysosomal lumen, chromaffin granule, endolysosome lumen, apical plasma membrane, plasma membrane, multivesicular body, lysosome, lysosome, nucleus, extracellular space, extracellular space, extracellular region, extracellular region, GO:0097655, GO:0043394, GO:0042393, GO:0008234, GO:0005518, GO:0005515, GO:0004197, GO:0004197, GO:0004197, GO:0001968, serpin family protein binding, proteoglycan binding, histone binding, cysteine-type peptidase activity, collagen binding, protein binding, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, fibronectin binding, GO:0097067, GO:0071888, GO:0060309, GO:0051603, GO:0051603, GO:0048002, GO:0046718, GO:0045616, GO:0043373, GO:0039654, GO:0034230, GO:0031638, GO:0030574, GO:0030574, GO:0022617, GO:0019886, GO:0019882, GO:0019065, GO:0016540, GO:0006955, GO:0006508, GO:0002250, GO:0002224, cellular response to thyroid hormone stimulus, macrophage apoptotic process, elastin catabolic process, proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, antigen processing and presentation of peptide antigen, viral entry into host cell, regulation of keratinocyte differentiation, CD4-positive, alpha-beta T cell lineage commitment, fusion of virus membrane with host endosome membrane, enkephalin processing, zymogen activation, collagen catabolic process, collagen catabolic process, extracellular matrix disassembly, antigen processing and presentation of exogenous peptide antigen via MHC class II, antigen processing and presentation, receptor-mediated endocytosis of virus by host cell, protein autoprocessing, immune response, proteolysis, adaptive immune response, toll-like receptor signaling pathway, 9 4 19 24 33 51 9 22 22 ENSG00000135048 chr9 71683366 71816690 - CEMIP2 protein_coding This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]. 23670 GO:0070062, GO:0043231, GO:0016021, GO:0005887, GO:0005886, extracellular exosome, intracellular membrane-bounded organelle, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0045296, GO:0005509, GO:0004415, cadherin binding, calcium ion binding, hyalurononglucosaminidase activity, GO:1903670, GO:0030214, GO:0001525, regulation of sprouting angiogenesis, hyaluronan catabolic process, angiogenesis, 1522 1212 2157 1012 963 1240 923 623 839 ENSG00000135049 chr9 85546539 85742029 - AGTPBP1 protein_coding NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]. 23287 GO:0043231, GO:0005829, GO:0005739, GO:0005737, GO:0005730, GO:0005634, intracellular membrane-bounded organelle, cytosol, mitochondrion, cytoplasm, nucleolus, nucleus, GO:0015631, GO:0008270, GO:0004181, tubulin binding, zinc ion binding, metallocarboxypeptidase activity, GO:0050905, GO:0035610, GO:0035610, GO:0035609, GO:0035609, GO:0035608, GO:0021772, GO:0021702, GO:0007005, GO:0006508, GO:0001754, neuromuscular process, protein side chain deglutamylation, protein side chain deglutamylation, C-terminal protein deglutamylation, C-terminal protein deglutamylation, protein deglutamylation, olfactory bulb development, cerebellar Purkinje cell differentiation, mitochondrion organization, proteolysis, eye photoreceptor cell differentiation, 3323 2463 5395 2150 2534 3794 2737 2021 3162 ENSG00000135052 chr9 86026146 86100173 - GOLM1 protein_coding The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009]. 51280 GO:0005887, GO:0005794, GO:0005788, GO:0005615, integral component of plasma membrane, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, GO:0005515, protein binding, GO:0044267, GO:0043687, GO:0019216, GO:0006997, cellular protein metabolic process, post-translational protein modification, regulation of lipid metabolic process, nucleus organization, 17 30 27 29 28 49 26 25 12 ENSG00000135063 chr9 69324567 69392558 + FAM189A2 protein_coding 9413 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 6 0 0 4 ENSG00000135069 chr9 78297143 78330093 + PSAT1 protein_coding This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]. 29968 GO:0070062, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytosol, cytoplasm, GO:0042802, GO:0030170, GO:0005515, GO:0004648, GO:0004648, identical protein binding, pyridoxal phosphate binding, protein binding, O-phospho-L-serine:2-oxoglutarate aminotransferase activity, O-phospho-L-serine:2-oxoglutarate aminotransferase activity, GO:0008615, GO:0006564, GO:0006564, GO:0006564, pyridoxine biosynthetic process, L-serine biosynthetic process, L-serine biosynthetic process, L-serine biosynthetic process, 2 3 4 22 4 12 8 5 4 ENSG00000135070 chr9 86264546 86283102 - ISCA1 protein_coding ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]. 81689 GO:0005759, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrion, cytoplasm, GO:0051537, GO:0046872, GO:0005198, 2 iron, 2 sulfur cluster binding, metal ion binding, structural molecule activity, GO:0097428, GO:0044281, GO:0016226, protein maturation by iron-sulfur cluster transfer, small molecule metabolic process, iron-sulfur cluster assembly, 212 323 296 221 258 216 200 195 183 ENSG00000135074 chr5 157395534 157575775 - ADAM19 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]. 8728 GO:0062023, GO:0016021, GO:0005886, GO:0005794, GO:0005634, collagen-containing extracellular matrix, integral component of membrane, plasma membrane, Golgi apparatus, nucleus, GO:0046872, GO:0017124, GO:0005515, GO:0004222, GO:0004222, metal ion binding, SH3 domain binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:2000049, GO:0030198, GO:0010628, GO:0006509, GO:0001890, positive regulation of cell-cell adhesion mediated by cadherin, extracellular matrix organization, positive regulation of gene expression, membrane protein ectodomain proteolysis, placenta development, 1359 1673 2440 1095 1667 1898 1229 1247 1493 ENSG00000135077 chr5 157085832 157142869 - HAVCR2 protein_coding The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]. 84868 GO:0030054, GO:0016021, GO:0009986, GO:0005769, GO:0001772, cell junction, integral component of membrane, cell surface, early endosome, immunological synapse, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:2001189, GO:2000521, GO:1901224, GO:1900426, GO:1900425, GO:0071656, GO:0071222, GO:0070374, GO:0060135, GO:0050830, GO:0045089, GO:0045087, GO:0043032, GO:0042130, GO:0042102, GO:0034162, GO:0034154, GO:0034138, GO:0032815, GO:0032760, GO:0032753, GO:0032732, GO:0032729, GO:0032722, GO:0032720, GO:0032715, GO:0032712, GO:0032703, GO:0032689, GO:0032687, GO:0032088, GO:0030886, GO:0010629, GO:0006954, GO:0002859, GO:0002826, GO:0002652, GO:0002519, GO:0002281, GO:0002250, negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, negative regulation of immunological synapse formation, positive regulation of NIK/NF-kappaB signaling, positive regulation of defense response to bacterium, negative regulation of defense response to bacterium, negative regulation of granulocyte colony-stimulating factor production, cellular response to lipopolysaccharide, positive regulation of ERK1 and ERK2 cascade, maternal process involved in female pregnancy, defense response to Gram-positive bacterium, positive regulation of innate immune response, innate immune response, positive regulation of macrophage activation, negative regulation of T cell proliferation, positive regulation of T cell proliferation, toll-like receptor 9 signaling pathway, toll-like receptor 7 signaling pathway, toll-like receptor 3 signaling pathway, negative regulation of natural killer cell activation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-4 production, positive regulation of interleukin-1 production, positive regulation of interferon-gamma production, positive regulation of chemokine production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-3 production, negative regulation of interleukin-2 production, negative regulation of interferon-gamma production, negative regulation of interferon-alpha production, negative regulation of NF-kappaB transcription factor activity, negative regulation of myeloid dendritic cell activation, negative regulation of gene expression, inflammatory response, negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, negative regulation of T-helper 1 type immune response, regulation of tolerance induction dependent upon immune response, natural killer cell tolerance induction, macrophage activation involved in immune response, adaptive immune response, 15 15 24 56 52 54 20 25 17 ENSG00000135083 chr5 160249106 160345396 - CCNJL protein_coding 79616 GO:0005813, GO:0005737, GO:0005634, GO:0000307, centrosome, cytoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0044772, GO:0000079, mitotic cell cycle phase transition, regulation of cyclin-dependent protein serine/threonine kinase activity, 1655 1445 2335 878 1323 1541 1036 1080 1276 ENSG00000135090 chr12 118149801 118372945 - TAOK3 protein_coding The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016]. 51347 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0106311, GO:0106310, GO:0016740, GO:0005524, GO:0005515, GO:0004860, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, transferase activity, ATP binding, protein binding, protein kinase inhibitor activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0048812, GO:0046777, GO:0046330, GO:0046329, GO:0043507, GO:0032874, GO:0032147, GO:0031098, GO:0023014, GO:0007095, GO:0006974, GO:0006469, GO:0006468, GO:0006468, GO:0006281, GO:0000165, GO:0000165, neuron projection morphogenesis, protein autophosphorylation, positive regulation of JNK cascade, negative regulation of JNK cascade, positive regulation of JUN kinase activity, positive regulation of stress-activated MAPK cascade, activation of protein kinase activity, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, mitotic G2 DNA damage checkpoint, cellular response to DNA damage stimulus, negative regulation of protein kinase activity, protein phosphorylation, protein phosphorylation, DNA repair, MAPK cascade, MAPK cascade, 1797 1879 2069 861 1291 1252 1033 1087 1111 ENSG00000135093 chr12 109023089 109088026 + USP30 protein_coding USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]. 84749 GO:0016021, GO:0005829, GO:0005741, GO:0005741, GO:0005739, GO:0005634, integral component of membrane, cytosol, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, nucleus, GO:0005515, GO:0004843, GO:0004843, GO:0004197, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:1901525, GO:0044313, GO:0035871, GO:0016579, GO:0016579, GO:0016579, GO:0008053, GO:0006511, GO:0000422, GO:0000422, negative regulation of mitophagy, protein K6-linked deubiquitination, protein K11-linked deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, mitochondrial fusion, ubiquitin-dependent protein catabolic process, autophagy of mitochondrion, autophagy of mitochondrion, 47 75 55 45 74 22 44 39 49 ENSG00000135094 chr12 113392445 113426301 - SDS protein_coding This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]. 10993 GO:0005829, GO:0005829, GO:0005739, cytosol, cytosol, mitochondrion, GO:0042803, GO:0030170, GO:0005515, GO:0004794, GO:0003941, protein homodimerization activity, pyridoxal phosphate binding, protein binding, L-threonine ammonia-lyase activity, L-serine ammonia-lyase activity, GO:0042866, GO:0019518, GO:0009097, GO:0006567, GO:0006565, GO:0006094, pyruvate biosynthetic process, L-threonine catabolic process to glycine, isoleucine biosynthetic process, threonine catabolic process, L-serine catabolic process, gluconeogenesis, 0 0 2 2 0 4 0 1 0 ENSG00000135097 chr12 120341330 120369180 - MSI1 protein_coding This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008]. 4440 GO:0005844, GO:0005737, GO:0005634, polysome, cytoplasm, nucleus, GO:0042802, GO:0008266, GO:0005515, GO:0003723, identical protein binding, poly(U) RNA binding, protein binding, RNA binding, GO:0007399, nervous system development, 0 0 0 0 0 0 0 0 0 ENSG00000135100 chr12 120978543 121002512 + HNF1A protein_coding The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 6927 GO:0032991, GO:0005737, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, cytoplasm, nucleus, nucleus, chromatin, GO:0046983, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000976, protein dimerization activity, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060261, GO:0046323, GO:0045944, GO:0045893, GO:0042593, GO:0035623, GO:0035565, GO:0031016, GO:0030073, GO:0006357, GO:0006357, GO:0001889, positive regulation of transcription initiation from RNA polymerase II promoter, glucose import, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, glucose homeostasis, renal glucose absorption, regulation of pronephros size, pancreas development, insulin secretion, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, liver development, 1 2 3 5 1 3 1 1 0 ENSG00000135108 chr12 117141988 117190531 - FBXO21 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]. 23014 GO:0005829, GO:0000151, cytosol, ubiquitin ligase complex, GO:0004842, GO:0003677, ubiquitin-protein transferase activity, DNA binding, GO:0043687, GO:0006511, GO:0000209, post-translational protein modification, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 38 46 102 68 21 67 70 10 64 ENSG00000135111 chr12 114670254 114684164 - TBX3 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]. 6926 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001227, GO:0001102, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000648, GO:0090398, GO:0072105, GO:0060931, GO:0060923, GO:0060596, GO:0060444, GO:0060412, GO:0060021, GO:0051145, GO:0048332, GO:0046884, GO:0045892, GO:0045787, GO:0045662, GO:0043066, GO:0042733, GO:0035136, GO:0035116, GO:0035115, GO:0032275, GO:0030879, GO:0030857, GO:0030540, GO:0030539, GO:0021761, GO:0019827, GO:0010159, GO:0009887, GO:0008595, GO:0008284, GO:0008284, GO:0007569, GO:0007417, GO:0006357, GO:0006357, GO:0003205, GO:0003167, GO:0003151, GO:0001947, GO:0001708, GO:0001701, GO:0001568, GO:0001501, GO:0000122, positive regulation of stem cell proliferation, cellular senescence, ureteric peristalsis, sinoatrial node cell development, cardiac muscle cell fate commitment, mammary placode formation, branching involved in mammary gland duct morphogenesis, ventricular septum morphogenesis, roof of mouth development, smooth muscle cell differentiation, mesoderm morphogenesis, follicle-stimulating hormone secretion, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, negative regulation of myoblast differentiation, negative regulation of apoptotic process, embryonic digit morphogenesis, forelimb morphogenesis, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, luteinizing hormone secretion, mammary gland development, negative regulation of epithelial cell differentiation, female genitalia development, male genitalia development, limbic system development, stem cell population maintenance, specification of animal organ position, animal organ morphogenesis, anterior/posterior axis specification, embryo, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell aging, central nervous system development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, cardiac chamber development, atrioventricular bundle cell differentiation, outflow tract morphogenesis, heart looping, cell fate specification, in utero embryonic development, blood vessel development, skeletal system development, negative regulation of transcription by RNA polymerase II, 0 8 12 0 0 0 0 2 0 ENSG00000135114 chr12 121019111 121039242 - OASL protein_coding 8638 GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, membrane, membrane, cytosol, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, GO:0046966, GO:0005515, GO:0003725, GO:0003725, GO:0003723, GO:0003677, GO:0001730, thyroid hormone receptor binding, protein binding, double-stranded RNA binding, double-stranded RNA binding, RNA binding, DNA binding, 2'-5'-oligoadenylate synthetase activity, GO:0060700, GO:0060337, GO:0060333, GO:0051607, GO:0051607, GO:0051607, GO:0045071, GO:0045071, GO:0009615, regulation of ribonuclease activity, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, defense response to virus, defense response to virus, negative regulation of viral genome replication, negative regulation of viral genome replication, response to virus, 566 580 952 288 443 493 394 389 465 ENSG00000135116 chr12 116856144 116881441 - HRK protein_coding This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. 8739 GO:0016021, GO:0005739, GO:0005739, integral component of membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0090200, GO:0043065, GO:0043065, GO:0031334, GO:0006915, positive regulation of release of cytochrome c from mitochondria, positive regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of protein-containing complex assembly, apoptotic process, 2 60 1 4 103 2 0 65 0 ENSG00000135119 chr12 116738178 116853631 + RNFT2 protein_coding 84900 GO:0016021, integral component of membrane, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, 4 4 5 3 11 0 6 5 1 ENSG00000135124 chr12 121209857 121234106 + P2RX4 protein_coding The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]. 5025 GO:0070062, GO:0048471, GO:0044297, GO:0043197, GO:0043195, GO:0043025, GO:0030054, GO:0016020, GO:0016020, GO:0014069, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005765, GO:0005639, extracellular exosome, perinuclear region of cytoplasm, cell body, dendritic spine, terminal bouton, neuronal cell body, cell junction, membrane, membrane, postsynaptic density, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, integral component of nuclear inner membrane, GO:0099604, GO:0099604, GO:0045296, GO:0042802, GO:0008270, GO:0008144, GO:0005524, GO:0005515, GO:0005507, GO:0005102, GO:0004931, GO:0004931, GO:0001614, GO:0001614, ligand-gated calcium channel activity, ligand-gated calcium channel activity, cadherin binding, identical protein binding, zinc ion binding, drug binding, ATP binding, protein binding, copper ion binding, signaling receptor binding, extracellularly ATP-gated cation channel activity, extracellularly ATP-gated cation channel activity, purinergic nucleotide receptor activity, purinergic nucleotide receptor activity, GO:2001028, GO:1904141, GO:1904124, GO:1900027, GO:0097190, GO:0071318, GO:0071294, GO:0070588, GO:0060079, GO:0055119, GO:0055117, GO:0051928, GO:0051899, GO:0051897, GO:0050975, GO:0050920, GO:0050850, GO:0050850, GO:0048678, GO:0048266, GO:0045429, GO:0043536, GO:0042118, GO:0035590, GO:0034405, GO:0034220, GO:0033198, GO:0032308, GO:0019722, GO:0019233, GO:0019228, GO:0010614, GO:0010524, GO:0010524, GO:0008217, GO:0007596, GO:0007165, GO:0002931, GO:0002028, GO:0001894, positive regulation of endothelial cell chemotaxis, positive regulation of microglial cell migration, microglial cell migration, regulation of ruffle assembly, apoptotic signaling pathway, cellular response to ATP, cellular response to zinc ion, calcium ion transmembrane transport, excitatory postsynaptic potential, relaxation of cardiac muscle, regulation of cardiac muscle contraction, positive regulation of calcium ion transport, membrane depolarization, positive regulation of protein kinase B signaling, sensory perception of touch, regulation of chemotaxis, positive regulation of calcium-mediated signaling, positive regulation of calcium-mediated signaling, response to axon injury, behavioral response to pain, positive regulation of nitric oxide biosynthetic process, positive regulation of blood vessel endothelial cell migration, endothelial cell activation, purinergic nucleotide receptor signaling pathway, response to fluid shear stress, ion transmembrane transport, response to ATP, positive regulation of prostaglandin secretion, calcium-mediated signaling, sensory perception of pain, neuronal action potential, negative regulation of cardiac muscle hypertrophy, positive regulation of calcium ion transport into cytosol, positive regulation of calcium ion transport into cytosol, regulation of blood pressure, blood coagulation, signal transduction, response to ischemia, regulation of sodium ion transport, tissue homeostasis, 62 82 49 96 77 76 95 54 62 ENSG00000135127 chr12 119989869 120094494 + BICDL1 protein_coding 92558 GO:0005813, GO:0005737, centrosome, cytoplasm, GO:0034452, GO:0031267, GO:0031267, dynactin binding, small GTPase binding, small GTPase binding, GO:0055107, GO:0055107, GO:0047496, GO:0031175, Golgi to secretory granule transport, Golgi to secretory granule transport, vesicle transport along microtubule, neuron projection development, 48 43 127 90 12 109 72 25 80 ENSG00000135144 chr12 113056709 113098028 + DTX1 protein_coding Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]. 1840 GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, nuclear body, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0061630, GO:0031625, GO:0017124, GO:0008270, GO:0005515, GO:0005112, GO:0003713, ubiquitin protein ligase activity, ubiquitin protein ligase binding, SH3 domain binding, zinc ion binding, protein binding, Notch binding, transcription coactivator activity, GO:1990830, GO:1903508, GO:0045665, GO:0045581, GO:0016567, GO:0016567, GO:0010001, GO:0008593, GO:0007219, GO:0007219, GO:0007166, GO:0006366, GO:0006351, cellular response to leukemia inhibitory factor, positive regulation of nucleic acid-templated transcription, negative regulation of neuron differentiation, negative regulation of T cell differentiation, protein ubiquitination, protein ubiquitination, glial cell differentiation, regulation of Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, cell surface receptor signaling pathway, transcription by RNA polymerase II, transcription, DNA-templated, 4 3 6 12 1 23 6 9 11 ENSG00000135148 chr12 112125501 112153609 + TRAFD1 protein_coding The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]. 10906 GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0045824, negative regulation of innate immune response, 865 678 879 240 463 458 377 494 342 ENSG00000135164 chr7 87152361 87196337 + DMTF1 protein_coding This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 9988 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:0003700, GO:0003700, GO:0000981, GO:0000978, GO:0000976, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0007049, GO:0006357, GO:0006355, GO:0006355, cell cycle, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 455 437 648 462 462 536 514 304 430 ENSG00000135175 chr7 97984684 97991169 - OCM2 protein_coding This gene is similar to the oncomodulin gene, a high-affinity calcium ion-binding protein that belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. [provided by RefSeq, Jul 2008]. 4951 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005509, GO:0005509, calcium ion binding, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000135185 chr7 87196160 87220587 - TMEM243 protein_coding 79161 GO:0016021, integral component of membrane, GO:0005515, protein binding, 58 52 94 88 63 108 65 48 102 ENSG00000135205 chr7 77122434 77329533 + CCDC146 protein_coding 57639 GO:0005856, GO:0005814, GO:0005737, cytoskeleton, centriole, cytoplasm, GO:0005515, protein binding, 287 168 202 281 189 167 201 151 114 ENSG00000135211 chr7 77793728 77798580 - TMEM60 protein_coding 85025 GO:0016021, integral component of membrane, GO:0005515, protein binding, 57 58 48 41 101 86 71 57 50 ENSG00000135218 chr7 80369575 80679277 + CD36 protein_coding The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]. 948 GO:0071944, GO:0045335, GO:0045121, GO:0043235, GO:0035579, GO:0031526, GO:0031092, GO:0030666, GO:0016324, GO:0016020, GO:0009986, GO:0009986, GO:0009986, GO:0009986, GO:0009897, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005737, GO:0005615, cell periphery, phagocytic vesicle, membrane raft, receptor complex, specific granule membrane, brush border membrane, platelet alpha granule membrane, endocytic vesicle membrane, apical plasma membrane, membrane, cell surface, cell surface, cell surface, cell surface, external side of plasma membrane, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, cytoplasm, extracellular space, GO:1901480, GO:0150025, GO:0071813, GO:0070892, GO:0070053, GO:0050431, GO:0044877, GO:0035325, GO:0030169, GO:0030169, GO:0015636, GO:0008289, GO:0008035, GO:0005515, GO:0005324, GO:0005044, GO:0005044, GO:0005044, GO:0005041, GO:0005041, GO:0005041, GO:0001540, GO:0001540, GO:0001540, oleate transmembrane transporter activity, oxidised low-density lipoprotein particle receptor activity, lipoprotein particle binding, lipoteichoic acid immune receptor activity, thrombospondin receptor activity, transforming growth factor beta binding, protein-containing complex binding, Toll-like receptor binding, low-density lipoprotein particle binding, low-density lipoprotein particle binding, short-chain fatty acid transmembrane transporter activity, lipid binding, high-density lipoprotein particle binding, protein binding, long-chain fatty acid transporter activity, scavenger receptor activity, scavenger receptor activity, scavenger receptor activity, low-density lipoprotein particle receptor activity, low-density lipoprotein particle receptor activity, low-density lipoprotein particle receptor activity, amyloid-beta binding, amyloid-beta binding, amyloid-beta binding, GO:2000334, GO:2000121, GO:1990379, GO:1990000, GO:1904646, GO:1903428, GO:1900227, GO:0150094, GO:0150094, GO:0150024, GO:0140052, GO:0120162, GO:0098900, GO:0097009, GO:0071726, GO:0071447, GO:0071404, GO:0071223, GO:0071222, GO:0070543, GO:0070542, GO:0070508, GO:0070374, GO:0060907, GO:0060100, GO:0055096, GO:0051092, GO:0050909, GO:0050892, GO:0050830, GO:0050731, GO:0045429, GO:0044539, GO:0044539, GO:0043312, GO:0043277, GO:0043254, GO:0043123, GO:0042953, GO:0042953, GO:0042953, GO:0042308, GO:0038124, GO:0035634, GO:0034383, GO:0034383, GO:0034381, GO:0034197, GO:0034121, GO:0033993, GO:0032760, GO:0032755, GO:0032735, GO:0032611, GO:0031664, GO:0031623, GO:0030301, GO:0030299, GO:0030194, GO:0019934, GO:0019915, GO:0019915, GO:0019221, GO:0019216, GO:0015912, GO:0015911, GO:0015909, GO:0010942, GO:0010886, GO:0010744, GO:0010628, GO:0007596, GO:0007263, GO:0007204, GO:0007155, GO:0006911, GO:0006910, GO:0006898, GO:0006898, GO:0006898, GO:0006631, GO:0006629, GO:0002755, GO:0002576, GO:0002532, GO:0002479, GO:0002224, GO:0001954, GO:0000122, positive regulation of blood microparticle formation, regulation of removal of superoxide radicals, lipid transport across blood-brain barrier, amyloid fibril formation, cellular response to amyloid-beta, positive regulation of reactive oxygen species biosynthetic process, positive regulation of NLRP3 inflammasome complex assembly, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance by cellular catabolic process, oxidised low-density lipoprotein particle clearance, cellular response to oxidised low-density lipoprotein particle stimulus, positive regulation of cold-induced thermogenesis, regulation of action potential, energy homeostasis, cellular response to diacyl bacterial lipopeptide, cellular response to hydroperoxide, cellular response to low-density lipoprotein particle stimulus, cellular response to lipoteichoic acid, cellular response to lipopolysaccharide, response to linoleic acid, response to fatty acid, cholesterol import, positive regulation of ERK1 and ERK2 cascade, positive regulation of macrophage cytokine production, positive regulation of phagocytosis, engulfment, low-density lipoprotein particle mediated signaling, positive regulation of NF-kappaB transcription factor activity, sensory perception of taste, intestinal absorption, defense response to Gram-positive bacterium, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of nitric oxide biosynthetic process, long-chain fatty acid import into cell, long-chain fatty acid import into cell, neutrophil degranulation, apoptotic cell clearance, regulation of protein-containing complex assembly, positive regulation of I-kappaB kinase/NF-kappaB signaling, lipoprotein transport, lipoprotein transport, lipoprotein transport, negative regulation of protein import into nucleus, toll-like receptor TLR6:TLR2 signaling pathway, response to stilbenoid, low-density lipoprotein particle clearance, low-density lipoprotein particle clearance, plasma lipoprotein particle clearance, triglyceride transport, regulation of toll-like receptor signaling pathway, response to lipid, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, interleukin-1 beta production, regulation of lipopolysaccharide-mediated signaling pathway, receptor internalization, cholesterol transport, intestinal cholesterol absorption, positive regulation of blood coagulation, cGMP-mediated signaling, lipid storage, lipid storage, cytokine-mediated signaling pathway, regulation of lipid metabolic process, short-chain fatty acid transport, long-chain fatty acid import across plasma membrane, long-chain fatty acid transport, positive regulation of cell death, positive regulation of cholesterol storage, positive regulation of macrophage derived foam cell differentiation, positive regulation of gene expression, blood coagulation, nitric oxide mediated signal transduction, positive regulation of cytosolic calcium ion concentration, cell adhesion, phagocytosis, engulfment, phagocytosis, recognition, receptor-mediated endocytosis, receptor-mediated endocytosis, receptor-mediated endocytosis, fatty acid metabolic process, lipid metabolic process, MyD88-dependent toll-like receptor signaling pathway, platelet degranulation, production of molecular mediator involved in inflammatory response, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, toll-like receptor signaling pathway, positive regulation of cell-matrix adhesion, negative regulation of transcription by RNA polymerase II, 17 39 43 21 61 91 23 37 35 ENSG00000135220 chr4 68928463 68951791 - UGT2A3 protein_coding 79799 GO:0043231, GO:0016021, intracellular membrane-bounded organelle, integral component of membrane, GO:0015020, GO:0008194, glucuronosyltransferase activity, UDP-glycosyltransferase activity, GO:0052695, cellular glucuronidation, 0 0 0 0 0 0 0 0 0 ENSG00000135222 chr4 69955256 69961007 - CSN2 protein_coding This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. In addition, the C-terminal 14 aa of the protein has antimicrobial activity, especially in preterm milk, displaying antibacterial activity against S. aureus and Y. enterocolitica. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]. 1447 GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0005509, GO:0004869, GO:0004857, protein binding, calcium ion binding, cysteine-type endopeptidase inhibitor activity, enzyme inhibitor activity, GO:2000117, GO:0007595, GO:0006816, negative regulation of cysteine-type endopeptidase activity, lactation, calcium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000135226 chr4 69280499 69295050 + UGT2B28 protein_coding This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Two transcript variants encoding different isoforms have been found for this gene. While both isoforms are targeted to the endoplasmic reticulum, only the longer isoform appears to be active. [provided by RefSeq, May 2011]. 54490 GO:0048471, GO:0043231, GO:0016021, GO:0005789, GO:0005783, GO:0005640, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear outer membrane, GO:0015020, GO:0008194, glucuronosyltransferase activity, UDP-glycosyltransferase activity, GO:0052697, GO:0008202, xenobiotic glucuronidation, steroid metabolic process, 2 4 4 0 0 0 0 0 0 ENSG00000135241 chr7 108470422 108569666 - PNPLA8 protein_coding This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]. 50640 GO:0031966, GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005778, GO:0005777, GO:0005739, mitochondrial membrane, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, peroxisomal membrane, peroxisome, mitochondrion, GO:0102545, GO:0047499, GO:0047499, GO:0005524, GO:0004622, GO:0004620, phosphatidyl phospholipase B activity, calcium-independent phospholipase A2 activity, calcium-independent phospholipase A2 activity, ATP binding, lysophospholipase activity, phospholipase activity, GO:0070328, GO:0055088, GO:0050482, GO:0046338, GO:0043651, GO:0036152, GO:0036151, GO:0034638, GO:0019369, GO:0019369, GO:0008219, GO:0006631, GO:0006631, GO:0001516, triglyceride homeostasis, lipid homeostasis, arachidonic acid secretion, phosphatidylethanolamine catabolic process, linoleic acid metabolic process, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine catabolic process, arachidonic acid metabolic process, arachidonic acid metabolic process, cell death, fatty acid metabolic process, fatty acid metabolic process, prostaglandin biosynthetic process, 4357 3833 5691 2691 2621 3663 3149 2143 2874 ENSG00000135245 chr7 128455849 128458418 + HILPDA protein_coding 29923 GO:0030141, GO:0016021, GO:0009986, GO:0005829, GO:0005811, GO:0005811, GO:0005654, GO:0005615, secretory granule, integral component of membrane, cell surface, cytosol, lipid droplet, lipid droplet, nucleoplasm, extracellular space, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0071456, GO:0035425, GO:0035425, GO:0034389, GO:0010884, GO:0008284, GO:0001819, cellular response to hypoxia, autocrine signaling, autocrine signaling, lipid droplet organization, positive regulation of lipid storage, positive regulation of cell population proliferation, positive regulation of cytokine production, 2 2 12 4 0 5 4 5 15 ENSG00000135248 chr7 128709061 128731743 + FAM71F1 protein_coding 84691 0 0 1 0 1 0 0 1 0 ENSG00000135249 chr7 105532085 105567677 + RINT1 protein_coding This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]. 60561 GO:0070939, GO:0070939, GO:0005829, GO:0005789, GO:0005783, Dsl1/NZR complex, Dsl1/NZR complex, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:1902504, GO:1902504, GO:0060628, GO:0060628, GO:0015031, GO:0007049, GO:0006890, GO:0006890, regulation of signal transduction involved in mitotic G2 DNA damage checkpoint, regulation of signal transduction involved in mitotic G2 DNA damage checkpoint, regulation of ER to Golgi vesicle-mediated transport, regulation of ER to Golgi vesicle-mediated transport, protein transport, cell cycle, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 67 67 63 118 116 123 126 67 71 ENSG00000135250 chr7 105110704 105399308 - SRPK2 protein_coding 6733 GO:0016607, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear speck, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, chromatin, GO:0106311, GO:0106310, GO:0071889, GO:0005524, GO:0005515, GO:0004707, GO:0004674, GO:0004674, GO:0003723, GO:0000287, protein threonine kinase activity, protein serine kinase activity, 14-3-3 protein binding, ATP binding, protein binding, MAP kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, RNA binding, magnesium ion binding, GO:0062176, GO:0050684, GO:0048024, GO:0045787, GO:0045087, GO:0045071, GO:0045070, GO:0043525, GO:0035556, GO:0035556, GO:0035063, GO:0030154, GO:0018105, GO:0010628, GO:0010468, GO:0008380, GO:0008284, GO:0006468, GO:0001525, GO:0000245, GO:0000245, GO:0000165, R-loop disassembly, regulation of mRNA processing, regulation of mRNA splicing, via spliceosome, positive regulation of cell cycle, innate immune response, negative regulation of viral genome replication, positive regulation of viral genome replication, positive regulation of neuron apoptotic process, intracellular signal transduction, intracellular signal transduction, nuclear speck organization, cell differentiation, peptidyl-serine phosphorylation, positive regulation of gene expression, regulation of gene expression, RNA splicing, positive regulation of cell population proliferation, protein phosphorylation, angiogenesis, spliceosomal complex assembly, spliceosomal complex assembly, MAPK cascade, 2413 2379 2661 1725 2310 1800 1969 1749 1593 ENSG00000135253 chr7 128862451 128910719 - KCP protein_coding 375616 GO:0005576, extracellular region, 64 57 65 98 164 177 77 132 109 ENSG00000135269 chr7 116210493 116258783 + TES protein_coding Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Mar 2011]. 26136 GO:0032991, GO:0030054, GO:0005925, GO:0005925, GO:0005886, GO:0005829, GO:0005634, protein-containing complex, cell junction, focal adhesion, focal adhesion, plasma membrane, cytosol, nucleus, GO:0045296, GO:0008270, GO:0005515, GO:0003723, cadherin binding, zinc ion binding, protein binding, RNA binding, GO:0008285, negative regulation of cell population proliferation, 395 245 760 340 201 304 319 229 307 ENSG00000135272 chr7 114922154 115019202 + MDFIC protein_coding This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 29969 GO:0005737, GO:0005730, GO:0005634, cytoplasm, nucleolus, nucleus, GO:0030957, GO:0030332, GO:0008134, GO:0008134, GO:0005515, Tat protein binding, cyclin binding, transcription factor binding, transcription factor binding, protein binding, GO:0050434, GO:0050434, GO:0045893, GO:0045892, GO:0045892, GO:0042308, GO:0030111, GO:0016032, GO:0007257, positive regulation of viral transcription, positive regulation of viral transcription, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of protein import into nucleus, regulation of Wnt signaling pathway, viral process, activation of JUN kinase activity, 82 39 95 275 108 290 203 94 175 ENSG00000135297 chr6 73461578 73509236 + MTO1 protein_coding This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 25821 GO:0005739, mitochondrion, GO:0050660, GO:0003723, flavin adenine dinucleotide binding, RNA binding, GO:0070899, GO:0030488, GO:0002098, mitochondrial tRNA wobble uridine modification, tRNA methylation, tRNA wobble uridine modification, 40 33 67 83 41 87 87 34 72 ENSG00000135298 chr6 68635367 69389511 + ADGRB3 protein_coding This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]. 577 GO:0098794, GO:0043083, GO:0016021, GO:0005887, GO:0005886, postsynapse, synaptic cleft, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005096, GO:0004930, protein binding, GTPase activator activity, G protein-coupled receptor activity, GO:0099558, GO:0061743, GO:0051965, GO:0048814, GO:0043547, GO:0016525, GO:0016322, GO:0007520, GO:0007189, GO:0007186, GO:0007166, maintenance of synapse structure, motor learning, positive regulation of synapse assembly, regulation of dendrite morphogenesis, positive regulation of GTPase activity, negative regulation of angiogenesis, neuron remodeling, myoblast fusion, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000135299 chr6 89433170 89633834 + ANKRD6 protein_coding 22881 GO:0043231, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, cytoplasm, nucleus, GO:2000096, GO:0090090, GO:0046330, positive regulation of Wnt signaling pathway, planar cell polarity pathway, negative regulation of canonical Wnt signaling pathway, positive regulation of JNK cascade, 100 119 150 97 120 110 99 92 90 ENSG00000135312 chr6 77461753 77463773 - HTR1B protein_coding The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]. 3351 GO:0099154, GO:0099056, GO:0098666, GO:0044305, GO:0030425, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005737, serotonergic synapse, integral component of presynaptic membrane, G protein-coupled serotonin receptor complex, calyx of Held, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0099626, GO:0051378, GO:0030594, GO:0008144, GO:0005515, GO:0004993, GO:0004993, voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels, serotonin binding, neurotransmitter receptor activity, drug binding, protein binding, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, GO:1904707, GO:0099509, GO:0071502, GO:0071312, GO:0051967, GO:0051385, GO:0050795, GO:0046849, GO:0045471, GO:0042756, GO:0042310, GO:0042220, GO:0035690, GO:0032229, GO:0014063, GO:0014059, GO:0014053, GO:0007268, GO:0007205, GO:0007198, GO:0007198, GO:0007193, GO:0007187, GO:0007186, GO:0002031, positive regulation of vascular associated smooth muscle cell proliferation, regulation of presynaptic cytosolic calcium ion concentration, cellular response to temperature stimulus, cellular response to alkaloid, negative regulation of synaptic transmission, glutamatergic, response to mineralocorticoid, regulation of behavior, bone remodeling, response to ethanol, drinking behavior, vasoconstriction, response to cocaine, cellular response to drug, negative regulation of synaptic transmission, GABAergic, negative regulation of serotonin secretion, regulation of dopamine secretion, negative regulation of gamma-aminobutyric acid secretion, chemical synaptic transmission, protein kinase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting serotonin receptor signaling pathway, adenylate cyclase-inhibiting serotonin receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor internalization, 1 0 0 0 0 0 0 0 0 ENSG00000135314 chr6 73241314 73310365 - KHDC1 protein_coding 80759 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0003723, RNA binding, GO:0006919, activation of cysteine-type endopeptidase activity involved in apoptotic process, 0 2 2 2 0 4 0 0 3 ENSG00000135315 chr6 84124241 84227635 - CEP162 protein_coding 22832 GO:0005879, GO:0005879, GO:0005829, GO:0005819, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005634, axonemal microtubule, axonemal microtubule, cytosol, spindle, centriole, centriole, centrosome, centrosome, nucleus, GO:0005515, protein binding, GO:0097711, GO:0060271, GO:0060271, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, 100 87 100 70 90 76 76 75 85 ENSG00000135316 chr6 85607785 85643792 - SYNCRIP protein_coding This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]. 10492 GO:1990904, GO:1990904, GO:0097452, GO:0071204, GO:0071013, GO:0070937, GO:0070937, GO:0016020, GO:0005783, GO:0005654, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, GAIT complex, histone pre-mRNA 3'end processing complex, catalytic step 2 spliceosome, CRD-mediated mRNA stability complex, CRD-mediated mRNA stability complex, membrane, endoplasmic reticulum, nucleoplasm, nucleus, GO:0048027, GO:0008143, GO:0005515, GO:0003729, GO:0003723, GO:0003723, mRNA 5'-UTR binding, poly(A) binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:0071346, GO:0070934, GO:0070934, GO:0017148, GO:0017148, GO:0016032, GO:0008380, GO:0006396, GO:0001649, GO:0000398, cellular response to interferon-gamma, CRD-mediated mRNA stabilization, CRD-mediated mRNA stabilization, negative regulation of translation, negative regulation of translation, viral process, RNA splicing, RNA processing, osteoblast differentiation, mRNA splicing, via spliceosome, 700 662 1010 827 630 861 813 446 658 ENSG00000135317 chr6 85505496 85594156 - SNX14 protein_coding This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. 57231 GO:0031902, GO:0030425, GO:0016021, GO:0005770, GO:0005765, GO:0005764, late endosome membrane, dendrite, integral component of membrane, late endosome, lysosomal membrane, lysosome, GO:0080025, phosphatidylinositol-3,5-bisphosphate binding, GO:0097352, GO:0015031, autophagosome maturation, protein transport, 352 280 405 305 399 322 334 274 245 ENSG00000135318 chr6 85449584 85495791 + NT5E protein_coding The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]. 4907 GO:0070062, GO:0031225, GO:0016020, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005654, extracellular exosome, anchored component of membrane, membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, GO:0046872, GO:0008253, GO:0008253, GO:0005515, GO:0000166, metal ion binding, 5'-nucleotidase activity, 5'-nucleotidase activity, protein binding, nucleotide binding, GO:0050728, GO:0046135, GO:0046086, GO:0019674, GO:0016311, GO:0007159, GO:0006259, GO:0006196, GO:0006195, negative regulation of inflammatory response, pyrimidine nucleoside catabolic process, adenosine biosynthetic process, NAD metabolic process, dephosphorylation, leukocyte cell-cell adhesion, DNA metabolic process, AMP catabolic process, purine nucleotide catabolic process, 12 3 7 34 9 20 38 13 11 ENSG00000135324 chr6 84033756 84090881 + MRAP2 protein_coding This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]. 112609 GO:0016021, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0070996, GO:0070996, GO:0042802, GO:0031783, GO:0031783, GO:0031782, GO:0031782, GO:0031781, GO:0031781, GO:0031780, GO:0031780, GO:0030545, GO:0005515, type 1 melanocortin receptor binding, type 1 melanocortin receptor binding, identical protein binding, type 5 melanocortin receptor binding, type 5 melanocortin receptor binding, type 4 melanocortin receptor binding, type 4 melanocortin receptor binding, type 3 melanocortin receptor binding, type 3 melanocortin receptor binding, corticotropin hormone receptor binding, corticotropin hormone receptor binding, receptor regulator activity, protein binding, GO:1903077, GO:0106072, GO:0106071, GO:0106070, GO:0097009, GO:0072659, GO:0072659, GO:0007631, GO:0006112, negative regulation of protein localization to plasma membrane, negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, energy homeostasis, protein localization to plasma membrane, protein localization to plasma membrane, feeding behavior, energy reserve metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000135333 chr6 93240020 93419547 - EPHA7 protein_coding This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 2045 GO:0099060, GO:0098978, GO:0043235, GO:0043025, GO:0043005, GO:0031594, GO:0030425, GO:0005887, GO:0005886, GO:0005886, integral component of postsynaptic specialization membrane, glutamatergic synapse, receptor complex, neuronal cell body, neuron projection, neuromuscular junction, dendrite, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0046875, GO:0045499, GO:0008046, GO:0005524, GO:0005515, GO:0005005, GO:0005004, GO:0004714, GO:0004713, ephrin receptor binding, chemorepellent activity, axon guidance receptor activity, ATP binding, protein binding, transmembrane-ephrin receptor activity, GPI-linked ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0099175, GO:0072178, GO:0070372, GO:0051964, GO:0050919, GO:0050730, GO:0048755, GO:0048671, GO:0048013, GO:0048013, GO:0043525, GO:0043281, GO:0033674, GO:0031952, GO:0031290, GO:0022407, GO:0018108, GO:0016310, GO:0007420, GO:0007411, GO:0007275, GO:0007169, GO:0006915, GO:0001934, regulation of postsynapse organization, nephric duct morphogenesis, regulation of ERK1 and ERK2 cascade, negative regulation of synapse assembly, negative chemotaxis, regulation of peptidyl-tyrosine phosphorylation, branching morphogenesis of a nerve, negative regulation of collateral sprouting, ephrin receptor signaling pathway, ephrin receptor signaling pathway, positive regulation of neuron apoptotic process, regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of kinase activity, regulation of protein autophosphorylation, retinal ganglion cell axon guidance, regulation of cell-cell adhesion, peptidyl-tyrosine phosphorylation, phosphorylation, brain development, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, apoptotic process, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000135334 chr6 87675072 87702209 - AKIRIN2 protein_coding 55122 GO:0017053, GO:0005654, GO:0005634, GO:0005634, transcription repressor complex, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0019899, GO:0005515, GO:0003712, GO:0001228, identical protein binding, enzyme binding, protein binding, transcription coregulator activity, DNA-binding transcription activator activity, RNA polymerase II-specific, GO:0045944, GO:0045944, GO:0045089, GO:0045087, GO:0032755, GO:0032496, GO:0010950, GO:0009792, GO:0008284, GO:0000122, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of innate immune response, innate immune response, positive regulation of interleukin-6 production, response to lipopolysaccharide, positive regulation of endopeptidase activity, embryo development ending in birth or egg hatching, positive regulation of cell population proliferation, negative regulation of transcription by RNA polymerase II, 1892 2168 2736 1041 1341 1814 1409 1549 1665 ENSG00000135336 chr6 87590067 87667453 + ORC3 protein_coding The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]. 23595 GO:0031261, GO:0016604, GO:0005664, GO:0005664, GO:0005656, GO:0005654, GO:0005654, GO:0000808, GO:0000785, GO:0000781, DNA replication preinitiation complex, nuclear body, nuclear origin of replication recognition complex, nuclear origin of replication recognition complex, nuclear pre-replicative complex, nucleoplasm, nucleoplasm, origin recognition complex, chromatin, chromosome, telomeric region, GO:0005515, GO:0003688, protein binding, DNA replication origin binding, GO:0061351, GO:0006275, GO:0006270, GO:0006267, GO:0006260, GO:0000082, neural precursor cell proliferation, regulation of DNA replication, DNA replication initiation, pre-replicative complex assembly involved in nuclear cell cycle DNA replication, DNA replication, G1/S transition of mitotic cell cycle, 91 86 101 109 68 117 112 65 68 ENSG00000135338 chr6 79484991 79537458 - LCA5 protein_coding This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]. 167691 GO:0036064, GO:0032391, GO:0005930, GO:0005929, ciliary basal body, photoreceptor connecting cilium, axoneme, cilium, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:0045494, GO:0042073, photoreceptor cell maintenance, intraciliary transport, 0 0 0 0 0 0 0 1 0 ENSG00000135341 chr6 90513573 90587045 - MAP3K7 protein_coding The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 6885 GO:0010008, GO:0008385, GO:0005886, GO:0005829, GO:0005829, GO:0005671, GO:0005634, endosome membrane, IkappaB kinase complex, plasma membrane, cytosol, cytosol, Ada2/Gcn5/Ada3 transcription activator complex, nucleus, GO:0097110, GO:0042802, GO:0030971, GO:0005524, GO:0005515, GO:0004709, GO:0004709, GO:0004709, GO:0004674, GO:0004674, GO:0004672, GO:0000287, scaffold protein binding, identical protein binding, receptor tyrosine kinase binding, ATP binding, protein binding, MAP kinase kinase kinase activity, MAP kinase kinase kinase activity, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:0070498, GO:0070423, GO:0051403, GO:0051092, GO:0050852, GO:0050852, GO:0043966, GO:0043507, GO:0043507, GO:0043276, GO:0043123, GO:0043123, GO:0038095, GO:0032743, GO:0016579, GO:0016239, GO:0016032, GO:0007254, GO:0007254, GO:0007254, GO:0007252, GO:0007250, GO:0007249, GO:0007223, GO:0007179, GO:0002755, GO:0002726, GO:0002223, GO:0000187, GO:0000187, GO:0000186, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, stress-activated MAPK cascade, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, T cell receptor signaling pathway, histone H3 acetylation, positive regulation of JUN kinase activity, positive regulation of JUN kinase activity, anoikis, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, Fc-epsilon receptor signaling pathway, positive regulation of interleukin-2 production, protein deubiquitination, positive regulation of macroautophagy, viral process, JNK cascade, JNK cascade, JNK cascade, I-kappaB phosphorylation, activation of NF-kappaB-inducing kinase activity, I-kappaB kinase/NF-kappaB signaling, Wnt signaling pathway, calcium modulating pathway, transforming growth factor beta receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, positive regulation of T cell cytokine production, stimulatory C-type lectin receptor signaling pathway, activation of MAPK activity, activation of MAPK activity, activation of MAPKK activity, 510 586 779 445 525 518 398 350 425 ENSG00000135346 chr6 87085498 87095406 - CGA protein_coding The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 1081 GO:0016914, GO:0016914, GO:0005796, GO:0005615, GO:0005615, GO:0005576, follicle-stimulating hormone complex, follicle-stimulating hormone complex, Golgi lumen, extracellular space, extracellular space, extracellular region, GO:0016913, GO:0016913, GO:0005515, GO:0005179, follicle-stimulating hormone activity, follicle-stimulating hormone activity, protein binding, hormone activity, GO:0045944, GO:0030335, GO:0016486, GO:0010893, GO:0010893, GO:0010469, GO:0008284, GO:0007186, GO:0007186, GO:0006590, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of cell migration, peptide hormone processing, positive regulation of steroid biosynthetic process, positive regulation of steroid biosynthetic process, regulation of signaling receptor activity, positive regulation of cell population proliferation, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, thyroid hormone generation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000135355 chr6 89894469 89921760 + GJA10 protein_coding Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]. 84694 GO:0016021, GO:0005922, GO:0005886, integral component of membrane, connexin complex, plasma membrane, GO:0005243, gap junction channel activity, GO:0055085, GO:0050908, GO:0007416, GO:0007276, GO:0007267, transmembrane transport, detection of light stimulus involved in visual perception, synapse assembly, gamete generation, cell-cell signaling, 0 0 0 0 0 0 0 0 0 ENSG00000135362 chr11 36296288 36465204 + PRR5L protein_coding 79899 GO:0031932, GO:0031932, TORC2 complex, TORC2 complex, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0090316, GO:0061014, GO:0038203, GO:0038203, GO:0034599, GO:0014068, GO:0010762, GO:0009968, GO:0001934, GO:0001933, positive regulation of intracellular protein transport, positive regulation of mRNA catabolic process, TORC2 signaling, TORC2 signaling, cellular response to oxidative stress, positive regulation of phosphatidylinositol 3-kinase signaling, regulation of fibroblast migration, negative regulation of signal transduction, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, 238 151 797 198 177 268 225 123 251 ENSG00000135363 chr11 33858576 33892289 - LMO2 protein_coding LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]. 4005 GO:0005667, GO:0005654, transcription regulator complex, nucleoplasm, GO:0046872, GO:0043425, GO:0005515, GO:0003713, GO:0001221, GO:0001102, metal ion binding, bHLH transcription factor binding, protein binding, transcription coactivator activity, transcription cofactor binding, RNA polymerase II activating transcription factor binding, GO:1902036, GO:0097067, GO:0045944, GO:0007275, regulation of hematopoietic stem cell differentiation, cellular response to thyroid hormone stimulus, positive regulation of transcription by RNA polymerase II, multicellular organism development, 330 412 544 140 398 278 216 363 228 ENSG00000135365 chr11 45929323 46121178 - PHF21A protein_coding The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]. 51317 GO:1990391, GO:0005654, GO:0000118, GO:0000118, DNA repair complex, nucleoplasm, histone deacetylase complex, histone deacetylase complex, GO:0046872, GO:0005515, GO:0003682, GO:0003677, metal ion binding, protein binding, chromatin binding, DNA binding, GO:0007596, GO:0006325, GO:0000122, blood coagulation, chromatin organization, negative regulation of transcription by RNA polymerase II, 3074 2815 3672 2476 3170 3373 2827 2311 2988 ENSG00000135372 chr11 34105602 34147670 + NAT10 protein_coding The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]. 55226 GO:0030496, GO:0016020, GO:0005730, GO:0005730, GO:0005697, GO:0005654, GO:0005634, GO:0000781, midbody, membrane, nucleolus, nucleolus, telomerase holoenzyme complex, nucleoplasm, nucleus, chromosome, telomeric region, GO:1990883, GO:0106162, GO:0070182, GO:0008080, GO:0005524, GO:0005515, GO:0003723, GO:0000049, rRNA cytidine N-acetyltransferase activity, mRNA N-acetyltransferase activity, DNA polymerase binding, N-acetyltransferase activity, ATP binding, protein binding, RNA binding, tRNA binding, GO:1904812, GO:0051391, GO:0045727, GO:0032211, GO:0010824, GO:0006473, GO:0000154, rRNA acetylation involved in maturation of SSU-rRNA, tRNA acetylation, positive regulation of translation, negative regulation of telomere maintenance via telomerase, regulation of centrosome duplication, protein acetylation, rRNA modification, 38 30 54 86 27 139 77 24 59 ENSG00000135373 chr11 34621093 34661057 + EHF protein_coding This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 26298 GO:0005794, GO:0005654, GO:0005634, GO:0005634, GO:0000785, Golgi apparatus, nucleoplasm, nucleus, nucleus, chromatin, GO:0003700, GO:0003677, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050673, GO:0045944, GO:0045893, GO:0030855, GO:0030154, GO:0007275, GO:0006366, GO:0006357, epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, epithelial cell differentiation, cell differentiation, multicellular organism development, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000135374 chr11 34478793 34513805 - ELF5 protein_coding The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]. 2001 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060644, GO:0045944, GO:0045596, GO:0035019, GO:0030154, GO:0006357, GO:0001712, mammary gland epithelial cell differentiation, positive regulation of transcription by RNA polymerase II, negative regulation of cell differentiation, somatic stem cell population maintenance, cell differentiation, regulation of transcription by RNA polymerase II, ectodermal cell fate commitment, 0 2 0 0 4 0 0 0 0 ENSG00000135378 chr11 32829943 32858123 + PRRG4 protein_coding 79056 GO:0033116, GO:0016021, GO:0005576, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, extracellular region, GO:0005509, GO:0003674, calcium ion binding, molecular_function, GO:0008150, biological_process, 449 515 301 149 384 175 293 403 228 ENSG00000135387 chr11 34051683 34101156 + CAPRIN1 protein_coding 4076 GO:0031252, GO:0030425, GO:0030027, GO:0016020, GO:0010494, GO:0005829, GO:0005737, GO:0000932, cell leading edge, dendrite, lamellipodium, membrane, cytoplasmic stress granule, cytosol, cytoplasm, P-body, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0061003, GO:0050775, GO:0017148, positive regulation of dendritic spine morphogenesis, positive regulation of dendrite morphogenesis, negative regulation of translation, 727 706 770 490 624 638 520 523 482 ENSG00000135390 chr12 53632726 53677408 - ATP5MC2 protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]. 517 GO:0045263, GO:0016021, GO:0005741, GO:0000276, proton-transporting ATP synthase complex, coupling factor F(o), integral component of membrane, mitochondrial outer membrane, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, GO:0008289, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, lipid binding, protein binding, GO:0042776, GO:0042407, GO:0015986, GO:0006754, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, ATP biosynthetic process, 204 217 202 355 266 389 249 259 259 ENSG00000135392 chr12 55820960 55830824 - DNAJC14 protein_coding 85406 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0015031, protein transport, 196 229 243 77 122 101 87 114 78 ENSG00000135404 chr12 55725323 55729707 - CD63 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]. 967 GO:0097487, GO:0070062, GO:0070062, GO:0042470, GO:0035577, GO:0032585, GO:0032585, GO:0031904, GO:0031902, GO:0031226, GO:0031088, GO:0010008, GO:0009986, GO:0005887, GO:0005886, GO:0005765, GO:0005765, GO:0005615, multivesicular body, internal vesicle, extracellular exosome, extracellular exosome, melanosome, azurophil granule membrane, multivesicular body membrane, multivesicular body membrane, endosome lumen, late endosome membrane, intrinsic component of plasma membrane, platelet dense granule membrane, endosome membrane, cell surface, integral component of plasma membrane, plasma membrane, lysosomal membrane, lysosomal membrane, extracellular space, GO:0005515, protein binding, GO:2001046, GO:1901379, GO:1900746, GO:1900746, GO:0048757, GO:0043312, GO:0035646, GO:0034613, GO:0016477, GO:0015031, GO:0007160, GO:0002576, GO:0002092, positive regulation of integrin-mediated signaling pathway, regulation of potassium ion transmembrane transport, regulation of vascular endothelial growth factor signaling pathway, regulation of vascular endothelial growth factor signaling pathway, pigment granule maturation, neutrophil degranulation, endosome to melanosome transport, cellular protein localization, cell migration, protein transport, cell-matrix adhesion, platelet degranulation, positive regulation of receptor internalization, 2645 3100 3360 3978 3801 4306 3926 3903 3479 ENSG00000135406 chr12 49293252 49298686 + PRPH protein_coding This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]. 5630 GO:0070062, GO:0045098, GO:0043204, GO:0030424, GO:0016020, GO:0005882, GO:0005737, extracellular exosome, type III intermediate filament, perikaryon, axon, membrane, intermediate filament, cytoplasm, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0045104, intermediate filament cytoskeleton organization, 0 0 1 0 0 0 0 0 2 ENSG00000135407 chr12 57797376 57818704 - AVIL protein_coding The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]. 10677 GO:0043005, GO:0042995, GO:0030424, GO:0030027, GO:0015629, GO:0005925, GO:0005884, GO:0005737, neuron projection, cell projection, axon, lamellipodium, actin cytoskeleton, focal adhesion, actin filament, cytoplasm, GO:0071933, GO:0051015, GO:0051015, GO:0005546, GO:0005515, GO:0003779, Arp2/3 complex binding, actin filament binding, actin filament binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, actin binding, GO:1900480, GO:0060271, GO:0051016, GO:0051014, GO:0010976, GO:0010592, GO:0008154, GO:0007399, GO:0007015, regulation of diacylglycerol biosynthetic process, cilium assembly, barbed-end actin filament capping, actin filament severing, positive regulation of neuron projection development, positive regulation of lamellipodium assembly, actin polymerization or depolymerization, nervous system development, actin filament organization, 271 374 250 494 630 590 461 412 517 ENSG00000135409 chr12 53423855 53431534 + AMHR2 protein_coding This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]. 269 GO:0048179, GO:0043235, GO:0005886, GO:0005886, activin receptor complex, receptor complex, plasma membrane, plasma membrane, GO:1990272, GO:0048185, GO:0046872, GO:0042562, GO:0017002, GO:0005524, GO:0005515, GO:0005026, GO:0004674, anti-Mullerian hormone receptor activity, activin binding, metal ion binding, hormone binding, activin-activated receptor activity, ATP binding, protein binding, transforming growth factor beta receptor activity, type II, protein serine/threonine kinase activity, GO:1990262, GO:0071363, GO:0032924, GO:0030509, GO:0008585, GO:0008584, GO:0007548, GO:0007548, GO:0007179, GO:0006468, GO:0001880, anti-Mullerian hormone signaling pathway, cellular response to growth factor stimulus, activin receptor signaling pathway, BMP signaling pathway, female gonad development, male gonad development, sex differentiation, sex differentiation, transforming growth factor beta receptor signaling pathway, protein phosphorylation, Mullerian duct regression, 1 0 0 1 4 0 1 7 4 ENSG00000135413 chr12 54630811 54634895 - LACRT protein_coding The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. [provided by RefSeq, Jul 2008]. 90070 GO:0030141, GO:0030141, GO:0005615, GO:0005576, GO:0005576, secretory granule, secretory granule, extracellular space, extracellular region, extracellular region, GO:0047485, GO:0043237, GO:0008083, GO:0005518, GO:0005515, GO:0001968, protein N-terminus binding, laminin-1 binding, growth factor activity, collagen binding, protein binding, fibronectin binding, GO:0070886, GO:0070075, GO:0070075, GO:0060054, GO:0051281, GO:0051047, GO:0051047, GO:0050850, GO:0050731, GO:0050679, GO:0043066, GO:0042742, GO:0034067, GO:0033173, GO:0031665, GO:0019722, GO:0019722, GO:0016239, GO:0010669, GO:0008284, GO:0008284, GO:0006473, positive regulation of calcineurin-NFAT signaling cascade, tear secretion, tear secretion, positive regulation of epithelial cell proliferation involved in wound healing, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of secretion, positive regulation of secretion, positive regulation of calcium-mediated signaling, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of epithelial cell proliferation, negative regulation of apoptotic process, defense response to bacterium, protein localization to Golgi apparatus, calcineurin-NFAT signaling cascade, negative regulation of lipopolysaccharide-mediated signaling pathway, calcium-mediated signaling, calcium-mediated signaling, positive regulation of macroautophagy, epithelial structure maintenance, positive regulation of cell population proliferation, positive regulation of cell population proliferation, protein acetylation, 0 0 0 0 0 0 0 0 0 ENSG00000135414 chr12 55743280 55757278 + GDF11 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]. 10220 GO:0043231, GO:0032991, GO:0005654, GO:0005615, intracellular membrane-bounded organelle, protein-containing complex, nucleoplasm, extracellular space, GO:0008083, GO:0005515, GO:0005125, growth factor activity, protein binding, cytokine activity, GO:0060395, GO:0060395, GO:0010862, GO:0007498, GO:0007399, GO:0001501, SMAD protein signal transduction, SMAD protein signal transduction, positive regulation of pathway-restricted SMAD protein phosphorylation, mesoderm development, nervous system development, skeletal system development, 43 20 34 70 99 54 74 39 74 ENSG00000135423 chr12 56470944 56488414 - GLS2 protein_coding The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]. 27165 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005515, GO:0004359, protein binding, glutaminase activity, GO:0072593, GO:0042981, GO:0014047, GO:0008652, GO:0006543, GO:0006537, GO:0006520, reactive oxygen species metabolic process, regulation of apoptotic process, glutamate secretion, cellular amino acid biosynthetic process, glutamine catabolic process, glutamate biosynthetic process, cellular amino acid metabolic process, 3 5 16 1 1 18 19 2 4 ENSG00000135424 chr12 55684568 55716043 - ITGA7 protein_coding The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]. 3679 GO:0009986, GO:0008305, GO:0005886, cell surface, integrin complex, plasma membrane, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0035987, GO:0034113, GO:0030198, GO:0008360, GO:0007517, GO:0007229, GO:0007160, endodermal cell differentiation, heterotypic cell-cell adhesion, extracellular matrix organization, regulation of cell shape, muscle organ development, integrin-mediated signaling pathway, cell-matrix adhesion, 2 7 4 3 5 2 5 14 9 ENSG00000135426 chr12 54948018 54984746 - TESPA1 protein_coding 9840 GO:0008180, GO:0005789, GO:0005737, GO:0005737, COP9 signalosome, endoplasmic reticulum membrane, cytoplasm, cytoplasm, GO:0005102, signaling receptor binding, GO:0050862, GO:0050862, GO:0033089, GO:0010387, positive regulation of T cell receptor signaling pathway, positive regulation of T cell receptor signaling pathway, positive regulation of T cell differentiation in thymus, COP9 signalosome assembly, 90 60 152 221 86 202 214 56 103 ENSG00000135436 chr12 49582885 49605639 - FAM186B protein_coding This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]. 84070 GO:0032991, protein-containing complex, 2 0 2 8 5 6 3 2 0 ENSG00000135437 chr12 55720367 55724705 + RDH5 protein_coding This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]. 5959 GO:0016021, GO:0005789, GO:0005789, GO:0005788, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, GO:0047044, GO:0047023, GO:0042803, GO:0004745, androstan-3-alpha,17-beta-diol dehydrogenase activity, androsterone dehydrogenase activity, protein homodimerization activity, retinol dehydrogenase activity, GO:0055114, GO:0050896, GO:0042572, GO:0008202, GO:0007601, GO:0001523, GO:0001523, oxidation-reduction process, response to stimulus, retinol metabolic process, steroid metabolic process, visual perception, retinoid metabolic process, retinoid metabolic process, 7 12 21 10 9 37 17 11 22 ENSG00000135439 chr12 57723761 57742157 - AGAP2 protein_coding The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 116986 GO:0090543, GO:0070062, GO:0016020, GO:0005829, GO:0005768, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, Flemming body, extracellular exosome, membrane, cytosol, endosome, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, nucleus, GO:0046872, GO:0035014, GO:0030295, GO:0019901, GO:0005525, GO:0005524, GO:0005515, GO:0005096, GO:0003924, GO:0003924, metal ion binding, phosphatidylinositol 3-kinase regulator activity, protein kinase activator activity, protein kinase binding, GTP binding, ATP binding, protein binding, GTPase activator activity, GTPase activity, GTPase activity, GO:0061903, GO:0045860, GO:0043547, GO:0043524, GO:0042177, GO:0032147, GO:0030036, GO:0016197, GO:0015031, positive regulation of 1-phosphatidylinositol-3-kinase activity, positive regulation of protein kinase activity, positive regulation of GTPase activity, negative regulation of neuron apoptotic process, negative regulation of protein catabolic process, activation of protein kinase activity, actin cytoskeleton organization, endosomal transport, protein transport, 904 1135 1511 493 931 972 631 615 878 ENSG00000135441 chr12 55716037 55720087 + BLOC1S1 protein_coding BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]. 2647 GO:1904115, GO:0099078, GO:0031083, GO:0031083, GO:0005829, GO:0005765, GO:0005759, GO:0005758, GO:0005739, GO:0005615, axon cytoplasm, BORC complex, BLOC-1 complex, BLOC-1 complex, cytosol, lysosomal membrane, mitochondrial matrix, mitochondrial intermembrane space, mitochondrion, extracellular space, GO:0005515, protein binding, GO:0060155, GO:0048490, GO:0032438, GO:0032418, GO:0031175, GO:0018394, GO:0016197, GO:0009060, GO:0008089, platelet dense granule organization, anterograde synaptic vesicle transport, melanosome organization, lysosome localization, neuron projection development, peptidyl-lysine acetylation, endosomal transport, aerobic respiration, anterograde axonal transport, 72 89 112 34 50 56 82 50 80 ENSG00000135443 chr12 52360006 52367481 - KRT85 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008]. 3891 GO:0045095, GO:0005829, GO:0005615, keratin filament, cytosol, extracellular space, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, GO:0008544, cornification, keratinization, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000135446 chr12 57747727 57756013 - CDK4 protein_coding The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]. 1019 GO:0097129, GO:0048471, GO:0031965, GO:0016592, GO:0005923, GO:0005829, GO:0005829, GO:0005730, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000307, cyclin D2-CDK4 complex, perinuclear region of cytoplasm, nuclear membrane, mediator complex, bicellular tight junction, cytosol, cytosol, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, cyclin-dependent protein kinase holoenzyme complex, GO:0044877, GO:0030332, GO:0016538, GO:0008353, GO:0005524, GO:0005515, GO:0004693, GO:0004693, GO:0004693, protein-containing complex binding, cyclin binding, cyclin-dependent protein serine/threonine kinase regulator activity, RNA polymerase II CTD heptapeptide repeat kinase activity, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, GO:2000134, GO:1904637, GO:1904628, GO:0071353, GO:0071222, GO:0071157, GO:0060612, GO:0055093, GO:0051726, GO:0051301, GO:0050994, GO:0048146, GO:0046890, GO:0046626, GO:0045793, GO:0045787, GO:0045727, GO:0043065, GO:0042493, GO:0040014, GO:0033574, GO:0032869, GO:0031100, GO:0010971, GO:0010468, GO:0010288, GO:0009636, GO:0008284, GO:0007623, GO:0007165, GO:0006468, GO:0006468, GO:0006367, GO:0002088, GO:0000082, GO:0000079, negative regulation of G1/S transition of mitotic cell cycle, cellular response to ionomycin, cellular response to phorbol 13-acetate 12-myristate, cellular response to interleukin-4, cellular response to lipopolysaccharide, negative regulation of cell cycle arrest, adipose tissue development, response to hyperoxia, regulation of cell cycle, cell division, regulation of lipid catabolic process, positive regulation of fibroblast proliferation, regulation of lipid biosynthetic process, regulation of insulin receptor signaling pathway, positive regulation of cell size, positive regulation of cell cycle, positive regulation of translation, positive regulation of apoptotic process, response to drug, regulation of multicellular organism growth, response to testosterone, cellular response to insulin stimulus, animal organ regeneration, positive regulation of G2/M transition of mitotic cell cycle, regulation of gene expression, response to lead ion, response to toxic substance, positive regulation of cell population proliferation, circadian rhythm, signal transduction, protein phosphorylation, protein phosphorylation, transcription initiation from RNA polymerase II promoter, lens development in camera-type eye, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 44 54 69 126 109 128 109 63 74 ENSG00000135447 chr12 54575387 54588659 - PPP1R1A protein_coding 5502 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0005515, GO:0004865, protein binding, protein serine/threonine phosphatase inhibitor activity, GO:0035556, GO:0032515, GO:0005977, intracellular signal transduction, negative regulation of phosphoprotein phosphatase activity, glycogen metabolic process, 13 30 22 52 60 57 34 23 67 ENSG00000135451 chr12 49323236 49331731 + TROAP protein_coding 10024 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0007155, cell adhesion, 0 0 0 0 0 13 3 1 5 ENSG00000135452 chr12 57738013 57750211 + TSPAN31 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]. 6302 GO:0016020, GO:0005887, membrane, integral component of plasma membrane, GO:0005515, protein binding, GO:0008284, positive regulation of cell population proliferation, 155 203 240 144 177 170 155 118 93 ENSG00000135454 chr12 57623410 57633355 - B4GALNT1 protein_coding GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]. 2583 GO:0030173, GO:0016020, GO:0005886, GO:0005794, GO:0000139, GO:0000139, integral component of Golgi membrane, membrane, plasma membrane, Golgi apparatus, Golgi membrane, Golgi membrane, GO:0008376, GO:0003947, GO:0003947, acetylgalactosaminyltransferase activity, (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity, (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity, GO:0030259, GO:0019915, GO:0007283, GO:0006687, GO:0005975, GO:0001574, GO:0001574, GO:0001574, lipid glycosylation, lipid storage, spermatogenesis, glycosphingolipid metabolic process, carbohydrate metabolic process, ganglioside biosynthetic process, ganglioside biosynthetic process, ganglioside biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000135457 chr12 51093663 51173134 - TFCP2 protein_coding This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]. 7024 GO:0032991, GO:0032991, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, protein-containing complex, cytosol, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0008134, GO:0005515, GO:0003677, GO:0001228, GO:0001228, GO:0000987, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, transcription factor binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0042789, GO:0006357, GO:0006357, positive regulation of transcription by RNA polymerase II, mRNA transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 205 207 260 101 193 208 130 144 173 ENSG00000135469 chr12 56266858 56270966 + COQ10A protein_coding 93058 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0048039, ubiquinone binding, GO:0045333, GO:0006744, cellular respiration, ubiquinone biosynthetic process, 13 14 22 47 17 51 45 11 20 ENSG00000135472 chr12 49866896 49904217 - FAIM2 protein_coding 23017 GO:0045211, GO:0045121, GO:0016021, GO:0005794, GO:0005783, postsynaptic membrane, membrane raft, integral component of membrane, Golgi apparatus, endoplasmic reticulum, GO:0005515, protein binding, GO:1902042, GO:0043524, GO:0043523, GO:0043066, GO:0021702, GO:0021681, GO:0021680, GO:0021549, GO:0006915, GO:0002931, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of neuron apoptotic process, regulation of neuron apoptotic process, negative regulation of apoptotic process, cerebellar Purkinje cell differentiation, cerebellar granular layer development, cerebellar Purkinje cell layer development, cerebellum development, apoptotic process, response to ischemia, 0 0 0 0 2 0 0 0 0 ENSG00000135473 chr12 56316223 56334053 - PAN2 protein_coding This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 9924 GO:0031251, GO:0031251, GO:0005829, GO:0005634, GO:0000932, PAN complex, PAN complex, cytosol, nucleus, P-body, GO:0046872, GO:0005515, GO:0004843, GO:0004535, GO:0004535, GO:0003676, GO:0000175, metal ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, nucleic acid binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0010606, GO:0006508, GO:0006397, GO:0000289, GO:0000289, RNA phosphodiester bond hydrolysis, exonucleolytic, positive regulation of cytoplasmic mRNA processing body assembly, proteolysis, mRNA processing, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, 64 54 122 153 69 181 102 52 129 ENSG00000135476 chr12 53268299 53293643 + ESPL1 protein_coding Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010]. 9700 GO:0072686, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0005634, mitotic spindle, cytosol, centrosome, centrosome, cytoplasm, nucleus, GO:0008234, GO:0008234, GO:0005515, GO:0004197, GO:0003824, cysteine-type peptidase activity, cysteine-type peptidase activity, protein binding, cysteine-type endopeptidase activity, catalytic activity, GO:0051307, GO:0045875, GO:0045842, GO:0045143, GO:0040001, GO:0006915, GO:0006508, GO:0000281, GO:0000212, GO:0000070, meiotic chromosome separation, negative regulation of sister chromatid cohesion, positive regulation of mitotic metaphase/anaphase transition, homologous chromosome segregation, establishment of mitotic spindle localization, apoptotic process, proteolysis, mitotic cytokinesis, meiotic spindle organization, mitotic sister chromatid segregation, 12 4 32 15 9 48 16 8 14 ENSG00000135477 chr12 52250466 52258867 - KRT87P transcribed_unprocessed_pseudogene 85349 GO:0045095, GO:0005615, keratin filament, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000135480 chr12 52232520 52252186 + KRT7 protein_coding The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]. 3855 GO:0070062, GO:0045095, GO:0005882, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, keratin filament, intermediate filament, cytosol, cytoplasm, nucleus, GO:0005515, protein binding, GO:0070268, GO:0031424, GO:0016032, cornification, keratinization, viral process, 0 0 0 0 0 0 0 0 0 ENSG00000135482 chr12 56118159 56127514 + ZC3H10 protein_coding 84872 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0046872, GO:0035198, GO:0005515, GO:0003723, GO:0003723, metal ion binding, miRNA binding, protein binding, RNA binding, RNA binding, GO:1903799, GO:0010608, GO:0000381, negative regulation of production of miRNAs involved in gene silencing by miRNA, posttranscriptional regulation of gene expression, regulation of alternative mRNA splicing, via spliceosome, 108 91 93 69 57 72 71 79 37 ENSG00000135486 chr12 54280193 54287088 + HNRNPA1 protein_coding This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]. 3178 GO:1990904, GO:0071013, GO:0070062, GO:0016020, GO:0005737, GO:0005681, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, catalytic step 2 spliceosome, extracellular exosome, membrane, cytoplasm, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0098505, GO:0061752, GO:0036002, GO:0035198, GO:0019904, GO:0005515, GO:0003727, GO:0003723, GO:0003697, G-rich strand telomeric DNA binding, telomeric repeat-containing RNA binding, pre-mRNA binding, miRNA binding, protein domain specific binding, protein binding, single-stranded RNA binding, RNA binding, single-stranded DNA binding, GO:1903936, GO:0051170, GO:0051168, GO:0051028, GO:0042149, GO:0032212, GO:0032211, GO:0016070, GO:0016032, GO:0008543, GO:0006405, GO:0000398, GO:0000398, GO:0000381, cellular response to sodium arsenite, import into nucleus, nuclear export, mRNA transport, cellular response to glucose starvation, positive regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, RNA metabolic process, viral process, fibroblast growth factor receptor signaling pathway, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 840 747 1445 2755 1269 2981 2085 880 1829 ENSG00000135502 chr12 57619527 57626151 + SLC26A10 protein_coding 65012 GO:0016323, GO:0005887, basolateral plasma membrane, integral component of plasma membrane, GO:0019531, GO:0015301, GO:0015116, GO:0015108, GO:0015106, GO:0008271, oxalate transmembrane transporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, GO:1902476, GO:1902358, GO:0019532, GO:0015701, chloride transmembrane transport, sulfate transmembrane transport, oxalate transport, bicarbonate transport, 0 0 0 0 0 0 0 0 0 ENSG00000135503 chr12 51951667 51997078 + ACVR1B protein_coding This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]. 91 GO:0048179, GO:0048179, GO:0043235, GO:0043235, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005829, activin receptor complex, activin receptor complex, receptor complex, receptor complex, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0048185, GO:0046872, GO:0046332, GO:0034711, GO:0031625, GO:0019838, GO:0017002, GO:0016361, GO:0016361, GO:0016361, GO:0005524, GO:0005515, GO:0004675, GO:0004674, GO:0004674, GO:0004674, GO:0004674, activin binding, metal ion binding, SMAD binding, inhibin binding, ubiquitin protein ligase binding, growth factor binding, activin-activated receptor activity, activin receptor activity, type I, activin receptor activity, type I, activin receptor activity, type I, ATP binding, protein binding, transmembrane receptor protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1901165, GO:0097191, GO:0071363, GO:0046777, GO:0046545, GO:0045944, GO:0045648, GO:0038092, GO:0032927, GO:0032924, GO:0032924, GO:0032924, GO:0030308, GO:0018107, GO:0010862, GO:0010629, GO:0007417, GO:0007399, GO:0007178, GO:0007165, GO:0006468, GO:0006468, GO:0006355, GO:0001942, GO:0001701, GO:0000082, positive regulation of trophoblast cell migration, extrinsic apoptotic signaling pathway, cellular response to growth factor stimulus, protein autophosphorylation, development of primary female sexual characteristics, positive regulation of transcription by RNA polymerase II, positive regulation of erythrocyte differentiation, nodal signaling pathway, positive regulation of activin receptor signaling pathway, activin receptor signaling pathway, activin receptor signaling pathway, activin receptor signaling pathway, negative regulation of cell growth, peptidyl-threonine phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of gene expression, central nervous system development, nervous system development, transmembrane receptor protein serine/threonine kinase signaling pathway, signal transduction, protein phosphorylation, protein phosphorylation, regulation of transcription, DNA-templated, hair follicle development, in utero embryonic development, G1/S transition of mitotic cell cycle, 105 112 231 34 40 55 37 52 55 ENSG00000135506 chr12 57693955 57721557 + OS9 protein_coding This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 10956 GO:0044322, GO:0005789, GO:0005788, GO:0005788, GO:0005783, GO:0000836, endoplasmic reticulum quality control compartment, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, Hrd1p ubiquitin ligase complex, GO:0030246, GO:0005515, GO:0005515, GO:0002020, carbohydrate binding, protein binding, protein binding, protease binding, GO:1904380, GO:1904153, GO:0055085, GO:0034976, GO:0030970, GO:0030433, GO:0030433, GO:0016567, GO:0006621, GO:0006605, GO:0006511, endoplasmic reticulum mannose trimming, negative regulation of retrograde protein transport, ER to cytosol, transmembrane transport, response to endoplasmic reticulum stress, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, protein retention in ER lumen, protein targeting, ubiquitin-dependent protein catabolic process, 4245 4591 5439 2905 3996 3528 3044 3384 3103 ENSG00000135517 chr12 56449502 56469166 - MIP protein_coding Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]. 4284 GO:0016324, GO:0016021, GO:0005921, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005783, apical plasma membrane, integral component of membrane, gap junction, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0015250, GO:0015250, GO:0015250, GO:0005516, GO:0005515, GO:0005212, water channel activity, water channel activity, water channel activity, calmodulin binding, protein binding, structural constituent of eye lens, GO:1990349, GO:0055085, GO:0051289, GO:0050896, GO:0045785, GO:0007601, GO:0006833, GO:0006833, GO:0006833, GO:0002088, gap junction-mediated intercellular transport, transmembrane transport, protein homotetramerization, response to stimulus, positive regulation of cell adhesion, visual perception, water transport, water transport, water transport, lens development in camera-type eye, 2 2 0 8 0 1 0 0 0 ENSG00000135519 chr12 49539157 49558308 + KCNH3 protein_coding The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. 23416 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005249, GO:0005249, protein binding, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0042391, GO:0034765, GO:0006813, potassium ion transmembrane transport, regulation of membrane potential, regulation of ion transmembrane transport, potassium ion transport, 51 38 37 45 48 61 38 33 68 ENSG00000135521 chr6 143843344 143863812 + LTV1 protein_coding 84946 GO:0030688, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, preribosome, small subunit precursor, cytosol, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0042274, GO:0000056, ribosomal small subunit biogenesis, ribosomal small subunit export from nucleus, 14 4 14 30 12 22 17 7 45 ENSG00000135525 chr6 136342281 136550819 - MAP7 protein_coding The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]. 9053 GO:0048471, GO:0030424, GO:0016323, GO:0015630, GO:0015630, GO:0005875, GO:0005874, GO:0005829, perinuclear region of cytoplasm, axon, basolateral plasma membrane, microtubule cytoskeleton, microtubule cytoskeleton, microtubule associated complex, microtubule, cytosol, GO:0005515, GO:0005198, GO:0005102, protein binding, structural molecule activity, signaling receptor binding, GO:0072659, GO:0007163, GO:0006970, GO:0000226, protein localization to plasma membrane, establishment or maintenance of cell polarity, response to osmotic stress, microtubule cytoskeleton organization, 76 146 127 22 138 52 55 155 60 ENSG00000135535 chr6 109366514 109382812 - CD164 protein_coding This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]. 8763 GO:0031410, GO:0010008, GO:0005887, GO:0005886, GO:0005768, GO:0005768, GO:0005765, GO:0005764, GO:0005764, GO:0005576, cytoplasmic vesicle, endosome membrane, integral component of plasma membrane, plasma membrane, endosome, endosome, lysosomal membrane, lysosome, lysosome, extracellular region, GO:0005515, protein binding, GO:0030097, GO:0008285, GO:0007517, GO:0007275, GO:0007165, GO:0007162, GO:0007157, GO:0007155, GO:0006955, hemopoiesis, negative regulation of cell population proliferation, muscle organ development, multicellular organism development, signal transduction, negative regulation of cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, cell adhesion, immune response, 1524 2440 1876 1596 2547 1639 1720 2081 1341 ENSG00000135537 chr6 108294894 108526796 + AFG1L protein_coding This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]. 246269 GO:0031966, GO:0005739, GO:0005739, GO:0005737, mitochondrial membrane, mitochondrion, mitochondrion, cytoplasm, GO:0016887, GO:0005524, GO:0005515, ATPase activity, ATP binding, protein binding, GO:0035694, GO:0007005, GO:0006123, mitochondrial protein catabolic process, mitochondrion organization, mitochondrial electron transport, cytochrome c to oxygen, 6 0 4 0 8 6 9 0 3 ENSG00000135540 chr6 138422043 138692571 - NHSL1 protein_coding 57224 GO:0030154, cell differentiation, 3 6 3 2 0 3 8 5 2 ENSG00000135541 chr6 135283532 135497776 - AHI1 protein_coding This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]. 54806 GO:0097730, GO:0036064, GO:0036038, GO:0005929, GO:0005929, GO:0005912, GO:0005911, GO:0005829, GO:0005814, GO:0005813, non-motile cilium, ciliary basal body, MKS complex, cilium, cilium, adherens junction, cell-cell junction, cytosol, centriole, centrosome, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0097711, GO:0071599, GO:0070986, GO:0070121, GO:0065001, GO:0060271, GO:0050795, GO:0045944, GO:0043066, GO:0039023, GO:0039008, GO:0035845, GO:0035844, GO:0034613, GO:0030902, GO:0030862, GO:0016192, GO:0010842, GO:0007417, GO:0007169, GO:0002092, GO:0001947, GO:0001738, ciliary basal body-plasma membrane docking, otic vesicle development, left/right axis specification, Kupffer's vesicle development, specification of axis polarity, cilium assembly, regulation of behavior, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, pronephric duct morphogenesis, pronephric nephron tubule morphogenesis, photoreceptor cell outer segment organization, cloaca development, cellular protein localization, hindbrain development, positive regulation of polarized epithelial cell differentiation, vesicle-mediated transport, retina layer formation, central nervous system development, transmembrane receptor protein tyrosine kinase signaling pathway, positive regulation of receptor internalization, heart looping, morphogenesis of a polarized epithelium, 13 12 24 30 8 55 29 13 14 ENSG00000135547 chr6 125747664 125761269 + HEY2 protein_coding This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 23493 GO:0017053, GO:0016580, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, transcription repressor complex, Sin3 complex, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046983, GO:0043565, GO:0042826, GO:0042802, GO:0008134, GO:0005515, GO:0003700, GO:0001227, GO:0001102, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, sequence-specific DNA binding, histone deacetylase binding, identical protein binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001212, GO:2000820, GO:2000723, GO:2000678, GO:0097084, GO:0090102, GO:0072359, GO:0070168, GO:0065004, GO:0061314, GO:0061314, GO:0061156, GO:0060977, GO:0060948, GO:0060842, GO:0060716, GO:0060633, GO:0060413, GO:0060412, GO:0060411, GO:0060347, GO:0060317, GO:0060045, GO:0055015, GO:0051145, GO:0050767, GO:0045944, GO:0045893, GO:0045892, GO:0045746, GO:0045607, GO:0045165, GO:0036304, GO:0035912, GO:0035910, GO:0014898, GO:0014031, GO:0010667, GO:0010629, GO:0010628, GO:0010621, GO:0010460, GO:0009952, GO:0009948, GO:0007219, GO:0007219, GO:0006357, GO:0003222, GO:0003215, GO:0003214, GO:0003208, GO:0003199, GO:0003198, GO:0003195, GO:0003186, GO:0003184, GO:0003180, GO:0003151, GO:0003150, GO:0001570, GO:0000122, GO:0000122, regulation of vasculogenesis, negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation, negative regulation of cardiac vascular smooth muscle cell differentiation, negative regulation of transcription regulatory region DNA binding, vascular associated smooth muscle cell development, cochlea development, circulatory system development, negative regulation of biomineral tissue development, protein-DNA complex assembly, Notch signaling involved in heart development, Notch signaling involved in heart development, pulmonary artery morphogenesis, coronary vasculature morphogenesis, cardiac vascular smooth muscle cell development, arterial endothelial cell differentiation, labyrinthine layer blood vessel development, negative regulation of transcription initiation from RNA polymerase II promoter, atrial septum morphogenesis, ventricular septum morphogenesis, cardiac septum morphogenesis, heart trabecula formation, cardiac epithelial to mesenchymal transition, positive regulation of cardiac muscle cell proliferation, ventricular cardiac muscle cell development, smooth muscle cell differentiation, regulation of neurogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of Notch signaling pathway, regulation of inner ear auditory receptor cell differentiation, cell fate commitment, umbilical cord morphogenesis, dorsal aorta morphogenesis, ascending aorta morphogenesis, cardiac muscle hypertrophy in response to stress, mesenchymal cell development, negative regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, positive regulation of gene expression, negative regulation of transcription by transcription factor localization, positive regulation of heart rate, anterior/posterior pattern specification, anterior/posterior axis specification, Notch signaling pathway, Notch signaling pathway, regulation of transcription by RNA polymerase II, ventricular trabecula myocardium morphogenesis, cardiac right ventricle morphogenesis, cardiac left ventricle morphogenesis, cardiac ventricle morphogenesis, endocardial cushion to mesenchymal transition involved in heart valve formation, epithelial to mesenchymal transition involved in endocardial cushion formation, tricuspid valve formation, tricuspid valve morphogenesis, pulmonary valve morphogenesis, aortic valve morphogenesis, outflow tract morphogenesis, muscular septum morphogenesis, vasculogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 0 0 3 0 0 0 1 0 ENSG00000135549 chr6 122471917 122726373 + PKIB protein_coding This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 5570 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0004862, cAMP-dependent protein kinase inhibitor activity, GO:2000480, GO:1904355, GO:0051973, GO:0032212, negative regulation of cAMP-dependent protein kinase activity, positive regulation of telomere capping, positive regulation of telomerase activity, positive regulation of telomere maintenance via telomerase, 0 0 0 1 0 0 2 0 0 ENSG00000135569 chr6 132588673 132589686 - TAAR5 protein_coding 9038 GO:0005887, integral component of plasma membrane, GO:1990081, GO:0004930, GO:0001594, trimethylamine receptor activity, G protein-coupled receptor activity, trace-amine receptor activity, GO:0007606, GO:0007186, GO:0007165, sensory perception of chemical stimulus, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000135577 chr6 142058330 142088799 - NMBR protein_coding This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]. 4829 GO:0005887, GO:0005886, GO:0005886, GO:0005829, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0004946, GO:0004930, bombesin receptor activity, G protein-coupled receptor activity, GO:0031989, GO:0007200, GO:0007186, GO:0007186, bombesin receptor signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000135587 chr6 109440763 109443919 + SMPD2 protein_coding This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]. 6610 GO:0071944, GO:0016020, GO:0005901, GO:0005887, GO:0005886, GO:0005783, cell periphery, membrane, caveola, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:0046872, GO:0005515, GO:0004767, GO:0004620, metal ion binding, protein binding, sphingomyelin phosphodiesterase activity, phospholipase activity, GO:2000304, GO:0046513, GO:0035556, GO:0030149, GO:0009612, GO:0006687, GO:0006685, GO:0006684, positive regulation of ceramide biosynthetic process, ceramide biosynthetic process, intracellular signal transduction, sphingolipid catabolic process, response to mechanical stimulus, glycosphingolipid metabolic process, sphingomyelin catabolic process, sphingomyelin metabolic process, 57 89 171 50 99 94 82 58 75 ENSG00000135596 chr6 109444062 109465968 - MICAL1 protein_coding This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 64780 GO:1990026, GO:0045171, GO:0030496, GO:0015629, GO:0005886, GO:0005882, GO:0005829, GO:0005737, hippocampal mossy fiber expansion, intercellular bridge, midbody, actin cytoskeleton, plasma membrane, intermediate filament, cytosol, cytoplasm, GO:0071949, GO:0051015, GO:0046872, GO:0031267, GO:0019901, GO:0017124, GO:0016709, GO:0016174, GO:0005515, GO:0003779, FAD binding, actin filament binding, metal ion binding, small GTPase binding, protein kinase binding, SH3 domain binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, NAD(P)H oxidase H2O2-forming activity, protein binding, actin binding, GO:1903305, GO:0055114, GO:0051017, GO:0043154, GO:0030042, GO:0019417, GO:0007596, GO:0007165, GO:0007010, GO:0001933, regulation of regulated secretory pathway, oxidation-reduction process, actin filament bundle assembly, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, actin filament depolymerization, sulfur oxidation, blood coagulation, signal transduction, cytoskeleton organization, negative regulation of protein phosphorylation, 1907 2190 2690 2021 2586 2833 2089 1858 2187 ENSG00000135597 chr6 138903493 138988261 - REPS1 protein_coding 85021 GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005737, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0017124, GO:0005515, GO:0005509, SH3 domain binding, protein binding, calcium ion binding, GO:0061024, GO:0016197, GO:0006898, GO:0006897, membrane organization, endosomal transport, receptor-mediated endocytosis, endocytosis, 83 98 114 153 115 169 165 89 129 ENSG00000135604 chr6 144150526 144188370 + STX11 protein_coding This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]. 8676 GO:0048787, GO:0031201, GO:0016021, GO:0012505, GO:0008021, GO:0005886, GO:0005794, presynaptic active zone membrane, SNARE complex, integral component of membrane, endomembrane system, synaptic vesicle, plasma membrane, Golgi apparatus, GO:0005515, GO:0005484, GO:0000149, protein binding, SNAP receptor activity, SNARE binding, GO:0061025, GO:0048278, GO:0031629, GO:0006906, GO:0006887, GO:0006886, membrane fusion, vesicle docking, synaptic vesicle fusion to presynaptic active zone membrane, vesicle fusion, exocytosis, intracellular protein transport, 3283 3032 4851 2704 3198 4856 3202 2641 3832 ENSG00000135605 chr4 48135783 48269864 - TEC protein_coding The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]. 7006 GO:0005886, GO:0005856, GO:0005829, plasma membrane, cytoskeleton, cytosol, GO:0046872, GO:0005543, GO:0005524, GO:0005515, GO:0004715, GO:0004715, metal ion binding, phospholipid binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, GO:0050853, GO:0050853, GO:0050852, GO:0050731, GO:0042246, GO:0038095, GO:0038083, GO:0038083, GO:0035556, GO:0019221, GO:0018108, GO:0010543, GO:0010543, GO:0007229, GO:0007229, GO:0006468, GO:0002250, B cell receptor signaling pathway, B cell receptor signaling pathway, T cell receptor signaling pathway, positive regulation of peptidyl-tyrosine phosphorylation, tissue regeneration, Fc-epsilon receptor signaling pathway, peptidyl-tyrosine autophosphorylation, peptidyl-tyrosine autophosphorylation, intracellular signal transduction, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, regulation of platelet activation, regulation of platelet activation, integrin-mediated signaling pathway, integrin-mediated signaling pathway, protein phosphorylation, adaptive immune response, 64 52 87 44 35 24 34 16 33 ENSG00000135617 chr2 73228006 73233238 - PRADC1 protein_coding 84279 GO:0005576, extracellular region, GO:0005515, protein binding, 12 2 6 6 2 12 10 5 6 ENSG00000135622 chr2 74654228 74683853 + SEMA4F protein_coding This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 10505 GO:0043204, GO:0030425, GO:0016020, GO:0014069, GO:0005887, GO:0005783, GO:0005615, perikaryon, dendrite, membrane, postsynaptic density, integral component of plasma membrane, endoplasmic reticulum, extracellular space, GO:0045499, GO:0030215, chemorepellent activity, semaphorin receptor binding, GO:0071526, GO:0050919, GO:0048843, GO:0030335, GO:0007411, GO:0007399, GO:0007267, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, axon guidance, nervous system development, cell-cell signaling, neural crest cell migration, 10 4 16 22 1 37 25 8 41 ENSG00000135624 chr2 73233420 73253021 + CCT7 protein_coding This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]. 10574 GO:0070062, GO:0044297, GO:0005874, GO:0005832, GO:0005832, GO:0005832, GO:0005829, GO:0005737, extracellular exosome, cell body, microtubule, chaperonin-containing T-complex, chaperonin-containing T-complex, chaperonin-containing T-complex, cytosol, cytoplasm, GO:0051082, GO:0042802, GO:0005524, GO:0005515, unfolded protein binding, identical protein binding, ATP binding, protein binding, GO:1904874, GO:1904871, GO:1904851, GO:1901998, GO:0050821, GO:0032212, GO:0007339, GO:0006457, GO:0006457, positive regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, toxin transport, protein stabilization, positive regulation of telomere maintenance via telomerase, binding of sperm to zona pellucida, protein folding, protein folding, 133 166 222 299 139 299 174 177 202 ENSG00000135625 chr2 73290929 73293705 - EGR4 protein_coding 1961 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0008284, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 0 0 0 120 34 239 130 48 161 ENSG00000135631 chr2 73073382 73156721 - RAB11FIP5 protein_coding 26056 GO:0055038, GO:0055037, GO:0055037, GO:0045335, GO:0043231, GO:0043231, GO:0034451, GO:0031901, GO:0030658, GO:0030141, GO:0030141, GO:0005794, GO:0005769, GO:0005769, GO:0005741, GO:0005739, GO:0000139, recycling endosome membrane, recycling endosome, recycling endosome, phagocytic vesicle, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, centriolar satellite, early endosome membrane, transport vesicle membrane, secretory granule, secretory granule, Golgi apparatus, early endosome, early endosome, mitochondrial outer membrane, mitochondrion, Golgi membrane, GO:0043015, GO:0031267, GO:0005515, gamma-tubulin binding, small GTPase binding, protein binding, GO:2000008, GO:0071468, GO:0070164, GO:0045055, GO:0045055, GO:0035773, regulation of protein localization to cell surface, cellular response to acidic pH, negative regulation of adiponectin secretion, regulated exocytosis, regulated exocytosis, insulin secretion involved in cellular response to glucose stimulus, 15 10 27 30 9 29 22 11 48 ENSG00000135632 chr2 73214222 73227237 + SMYD5 protein_coding 10322 GO:0005575, cellular_component, GO:0046872, GO:0008168, GO:0005515, GO:0003674, metal ion binding, methyltransferase activity, protein binding, molecular_function, GO:0032259, GO:0008150, methylation, biological_process, 11 4 22 51 10 64 22 14 23 ENSG00000135636 chr2 71453722 71686768 + DYSF protein_coding The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]. 8291 GO:0098857, GO:0070062, GO:0042383, GO:0034451, GO:0031410, GO:0030659, GO:0030315, GO:0030315, GO:0030139, GO:0030027, GO:0016021, GO:0005886, GO:0005874, GO:0005794, GO:0005770, GO:0005769, GO:0005768, GO:0005634, membrane microdomain, extracellular exosome, sarcolemma, centriolar satellite, cytoplasmic vesicle, cytoplasmic vesicle membrane, T-tubule, T-tubule, endocytic vesicle, lamellipodium, integral component of membrane, plasma membrane, microtubule, Golgi apparatus, late endosome, early endosome, endosome, nucleus, GO:0043014, GO:0008017, GO:0005544, GO:0005544, GO:0005543, GO:0005515, GO:0005509, GO:0005509, alpha-tubulin binding, microtubule binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, phospholipid binding, protein binding, calcium ion binding, calcium ion binding, GO:1902915, GO:1901842, GO:0090279, GO:0090023, GO:0071470, GO:0061025, GO:0050765, GO:0050765, GO:0048747, GO:0045785, GO:0045444, GO:0043403, GO:0042177, GO:0033292, GO:0019915, GO:0010629, GO:0007009, GO:0006936, GO:0006906, GO:0006071, GO:0002281, GO:0002281, GO:0002280, GO:0002280, GO:0001938, GO:0001816, GO:0001778, GO:0001525, negative regulation of protein polyubiquitination, negative regulation of high voltage-gated calcium channel activity, regulation of calcium ion import, positive regulation of neutrophil chemotaxis, cellular response to osmotic stress, membrane fusion, negative regulation of phagocytosis, negative regulation of phagocytosis, muscle fiber development, positive regulation of cell adhesion, fat cell differentiation, skeletal muscle tissue regeneration, negative regulation of protein catabolic process, T-tubule organization, lipid storage, negative regulation of gene expression, plasma membrane organization, muscle contraction, vesicle fusion, glycerol metabolic process, macrophage activation involved in immune response, macrophage activation involved in immune response, monocyte activation involved in immune response, monocyte activation involved in immune response, positive regulation of endothelial cell proliferation, cytokine production, plasma membrane repair, angiogenesis, 6768 5277 8915 2652 2888 3951 3325 2519 3375 ENSG00000135637 chr2 74471986 74483408 - CCDC142 protein_coding 84865 27 33 24 16 40 28 46 33 56 ENSG00000135638 chr2 72916260 72936071 + EMX1 protein_coding 2016 GO:0005737, GO:0005730, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleolus, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990138, GO:0070445, GO:0060563, GO:0060019, GO:0048872, GO:0048854, GO:0042493, GO:0030182, GO:0021895, GO:0021796, GO:0009791, GO:0007420, GO:0007417, GO:0006357, GO:0001701, GO:0000122, neuron projection extension, regulation of oligodendrocyte progenitor proliferation, neuroepithelial cell differentiation, radial glial cell differentiation, homeostasis of number of cells, brain morphogenesis, response to drug, neuron differentiation, cerebral cortex neuron differentiation, cerebral cortex regionalization, post-embryonic development, brain development, central nervous system development, regulation of transcription by RNA polymerase II, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 3 3 0 4 5 0 2 6 4 ENSG00000135643 chr12 70366276 70434292 + KCNMB4 protein_coding MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]. 27345 GO:0045202, GO:0008076, GO:0008076, GO:0005887, GO:0005886, synapse, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:0015459, GO:0015269, GO:0015269, GO:0005515, potassium channel regulator activity, calcium-activated potassium channel activity, calcium-activated potassium channel activity, protein binding, GO:0071805, GO:0046928, GO:0019229, GO:0019228, GO:0007268, GO:0006813, GO:0005513, GO:0005513, GO:0001508, potassium ion transmembrane transport, regulation of neurotransmitter secretion, regulation of vasoconstriction, neuronal action potential, chemical synaptic transmission, potassium ion transport, detection of calcium ion, detection of calcium ion, action potential, 1 2 6 0 2 6 0 0 2 ENSG00000135655 chr12 62260338 62417431 + USP15 protein_coding This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]. 9958 GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, mitochondrion, cytoplasm, nucleus, nucleus, GO:1990380, GO:0061649, GO:0046332, GO:0042802, GO:0005515, GO:0005160, GO:0004843, GO:0004197, Lys48-specific deubiquitinase activity, ubiquitin modification-dependent histone binding, SMAD binding, identical protein binding, protein binding, transforming growth factor beta receptor binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:1900246, GO:0071108, GO:0060389, GO:0035616, GO:0035520, GO:0030509, GO:0016579, GO:0016579, GO:0016032, GO:0007179, GO:0007179, GO:0006511, positive regulation of RIG-I signaling pathway, protein K48-linked deubiquitination, pathway-restricted SMAD protein phosphorylation, histone H2B conserved C-terminal lysine deubiquitination, monoubiquitinated protein deubiquitination, BMP signaling pathway, protein deubiquitination, protein deubiquitination, viral process, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, ubiquitin-dependent protein catabolic process, 11875 10016 11826 10161 13158 12098 11730 9535 9929 ENSG00000135677 chr12 64713445 64759447 - GNS protein_coding The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]. 2799 GO:1904813, GO:0070062, GO:0043202, GO:0035578, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, lysosomal lumen, azurophil granule lumen, extracellular region, GO:0046872, GO:0008484, GO:0008449, GO:0008449, GO:0005539, GO:0005515, metal ion binding, sulfuric ester hydrolase activity, N-acetylglucosamine-6-sulfatase activity, N-acetylglucosamine-6-sulfatase activity, glycosaminoglycan binding, protein binding, GO:0043312, GO:0042340, GO:0006027, neutrophil degranulation, keratan sulfate catabolic process, glycosaminoglycan catabolic process, 1932 2091 2080 554 944 706 632 918 632 ENSG00000135678 chr12 68842197 68971570 - CPM protein_coding The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. 1368 GO:0070062, GO:0031225, GO:0009986, GO:0005886, GO:0005615, GO:0005576, extracellular exosome, anchored component of membrane, cell surface, plasma membrane, extracellular space, extracellular region, GO:0008270, GO:0004181, GO:0004180, zinc ion binding, metallocarboxypeptidase activity, carboxypeptidase activity, GO:0016485, GO:0009653, GO:0006518, protein processing, anatomical structure morphogenesis, peptide metabolic process, 118 124 136 103 211 178 141 160 141 ENSG00000135679 chr12 68808176 68850686 + MDM2 protein_coding This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]. 4193 GO:0032991, GO:0032991, GO:0030666, GO:0016604, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, protein-containing complex, protein-containing complex, endocytic vesicle membrane, nuclear body, plasma membrane, cytosol, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0097718, GO:0097110, GO:0061663, GO:0061630, GO:0061630, GO:0061630, GO:0061630, GO:0047485, GO:0043130, GO:0043021, GO:0042802, GO:0031625, GO:0019904, GO:0019899, GO:0019789, GO:0016874, GO:0008270, GO:0008097, GO:0005515, GO:0004842, GO:0004842, GO:0002039, GO:0001228, disordered domain specific binding, scaffold protein binding, NEDD8 ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein N-terminus binding, ubiquitin binding, ribonucleoprotein complex binding, identical protein binding, ubiquitin protein ligase binding, protein domain specific binding, enzyme binding, SUMO transferase activity, ligase activity, zinc ion binding, 5S rRNA binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, p53 binding, DNA-binding transcription activator activity, RNA polymerase II-specific, GO:1990000, GO:1902254, GO:1901797, GO:1901797, GO:1901796, GO:0072717, GO:0071480, GO:0071456, GO:0071157, GO:0065003, GO:0060411, GO:0051865, GO:0051603, GO:0051149, GO:0046677, GO:0045944, GO:0045931, GO:0045892, GO:0045892, GO:0045184, GO:0043518, GO:0043161, GO:0042176, GO:0036369, GO:0034504, GO:0032436, GO:0031648, GO:0031648, GO:0018205, GO:0016925, GO:0016579, GO:0016567, GO:0016032, GO:0008284, GO:0007089, GO:0006977, GO:0006977, GO:0006511, GO:0006511, GO:0006511, GO:0006357, GO:0003283, GO:0003281, GO:0003203, GO:0003181, GO:0002027, GO:0001974, GO:0001568, GO:0000209, GO:0000122, amyloid fibril formation, negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of signal transduction by p53 class mediator, negative regulation of signal transduction by p53 class mediator, regulation of signal transduction by p53 class mediator, cellular response to actinomycin D, cellular response to gamma radiation, cellular response to hypoxia, negative regulation of cell cycle arrest, protein-containing complex assembly, cardiac septum morphogenesis, protein autoubiquitination, proteolysis involved in cellular protein catabolic process, positive regulation of muscle cell differentiation, response to antibiotic, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, establishment of protein localization, negative regulation of DNA damage response, signal transduction by p53 class mediator, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of protein catabolic process, transcription factor catabolic process, protein localization to nucleus, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein destabilization, protein destabilization, peptidyl-lysine modification, protein sumoylation, protein deubiquitination, protein ubiquitination, viral process, positive regulation of cell population proliferation, traversing start control point of mitotic cell cycle, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, regulation of transcription by RNA polymerase II, atrial septum development, ventricular septum development, endocardial cushion morphogenesis, atrioventricular valve morphogenesis, regulation of heart rate, blood vessel remodeling, blood vessel development, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 1546 1877 1851 1299 2730 1985 1769 1821 1761 ENSG00000135686 chr16 84648525 84667686 + KLHL36 protein_coding 79786 GO:0005575, cellular_component, GO:0097602, GO:0005515, cullin family protein binding, protein binding, GO:0016567, GO:0008150, protein ubiquitination, biological_process, 452 496 731 296 479 491 377 299 335 ENSG00000135697 chr16 81238448 81291142 + BCO1 protein_coding Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]. 53630 GO:0005829, cytosol, GO:0046872, GO:0010436, GO:0003834, GO:0003834, metal ion binding, carotenoid dioxygenase activity, beta-carotene 15,15'-monooxygenase activity, beta-carotene 15,15'-monooxygenase activity, GO:1901810, GO:0055114, GO:0042574, GO:0042574, GO:0042572, GO:0035238, GO:0016121, GO:0001523, GO:0001523, beta-carotene metabolic process, oxidation-reduction process, retinal metabolic process, retinal metabolic process, retinol metabolic process, vitamin A biosynthetic process, carotene catabolic process, retinoid metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000135698 chr16 82147798 82170226 - MPHOSPH6 protein_coding 10200 GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000178, GO:0000178, GO:0000176, GO:0000176, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, exosome (RNase complex), exosome (RNase complex), nuclear exosome (RNase complex), nuclear exosome (RNase complex), GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006364, GO:0000460, GO:0000460, rRNA processing, maturation of 5.8S rRNA, maturation of 5.8S rRNA, 14 16 22 33 10 47 29 10 16 ENSG00000135702 chr16 75528535 75535247 - CHST5 protein_coding The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) residues within proteoglycans, and sulfation of O-linked sugars of mucin-type acceptors. Carbohydrate sulfation plays a critical role in many biologic processes. This gene is predominantly expressed in colon and small intestine. [provided by RefSeq, Aug 2011]. 23563 GO:0031228, GO:0016021, GO:0005802, GO:0005794, GO:0000139, intrinsic component of Golgi membrane, integral component of membrane, trans-Golgi network, Golgi apparatus, Golgi membrane, GO:0008146, GO:0001517, GO:0001517, sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, GO:0018146, GO:0018146, GO:0006790, GO:0006790, GO:0006477, GO:0006044, GO:0006044, GO:0005975, keratan sulfate biosynthetic process, keratan sulfate biosynthetic process, sulfur compound metabolic process, sulfur compound metabolic process, protein sulfation, N-acetylglucosamine metabolic process, N-acetylglucosamine metabolic process, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000135709 chr16 85027751 85094230 + KIAA0513 protein_coding 9764 GO:0005737, cytoplasm, 1556 1575 1703 1174 1775 1541 1269 1216 1356 ENSG00000135720 chr16 66720893 66751798 - DYNC1LI2 protein_coding Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]. 1783 GO:0016020, GO:0005874, GO:0005868, GO:0005829, GO:0005813, GO:0005770, GO:0005764, GO:0000776, membrane, microtubule, cytoplasmic dynein complex, cytosol, centrosome, late endosome, lysosome, kinetochore, GO:0045504, GO:0042802, GO:0005524, GO:0003774, dynein heavy chain binding, identical protein binding, ATP binding, motor activity, GO:1990090, GO:0051642, GO:0019886, GO:0007018, GO:0006888, GO:0000226, cellular response to nerve growth factor stimulus, centrosome localization, antigen processing and presentation of exogenous peptide antigen via MHC class II, microtubule-based movement, endoplasmic reticulum to Golgi vesicle-mediated transport, microtubule cytoskeleton organization, 816 923 986 713 1160 917 857 775 790 ENSG00000135722 chr16 67159931 67164570 + FBXL8 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]. 55336 GO:0019005, GO:0005829, GO:0005829, GO:0005634, SCF ubiquitin ligase complex, cytosol, cytosol, nucleus, GO:0005515, protein binding, GO:0051726, GO:0043687, GO:0043153, GO:0031146, GO:0000209, GO:0000086, regulation of cell cycle, post-translational protein modification, entrainment of circadian clock by photoperiod, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein polyubiquitination, G2/M transition of mitotic cell cycle, 11 6 17 21 17 15 11 5 10 ENSG00000135723 chr16 67229387 67247658 - FHOD1 protein_coding This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 29109 GO:0032059, GO:0016020, GO:0014704, GO:0005856, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0001725, bleb, membrane, intercalated disc, cytoskeleton, cytosol, cytoplasm, nucleoplasm, nucleus, stress fiber, GO:0051015, GO:0043621, GO:0042802, GO:0019904, GO:0005515, actin filament binding, protein self-association, identical protein binding, protein domain specific binding, protein binding, GO:0051660, GO:0051639, GO:0051496, GO:0051492, GO:0045944, GO:0045944, GO:0030866, GO:0007097, establishment of centrosome localization, actin filament network formation, positive regulation of stress fiber assembly, regulation of stress fiber assembly, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cortical actin cytoskeleton organization, nuclear migration, 390 469 739 352 520 534 329 382 357 ENSG00000135736 chr16 57512178 57536599 - CCDC102A protein_coding 92922 GO:0016459, myosin complex, GO:0003774, motor activity, 3 1 17 5 6 8 13 4 18 ENSG00000135740 chr16 67237683 67272190 + SLC9A5 protein_coding 6553 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0015386, GO:0015385, potassium:proton antiporter activity, sodium:proton antiporter activity, GO:1902600, GO:0098719, GO:0098656, GO:0071805, GO:0051453, GO:0006811, proton transmembrane transport, sodium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, ion transport, 67 97 159 54 90 70 45 72 36 ENSG00000135744 chr1 230702523 230714297 - AGT protein_coding The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019]. 183 GO:0072562, GO:0070062, GO:0062023, GO:0005829, GO:0005615, GO:0005615, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, cytosol, extracellular space, extracellular space, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0031703, GO:0031702, GO:0008083, GO:0005515, GO:0005179, GO:0005179, GO:0004867, type 2 angiotensin receptor binding, type 1 angiotensin receptor binding, growth factor activity, protein binding, hormone activity, hormone activity, serine-type endopeptidase inhibitor activity, GO:2001238, GO:2000379, GO:1905589, GO:1905010, GO:1904754, GO:1904707, GO:1904385, GO:1903779, GO:1903598, GO:1901201, GO:0090190, GO:0071260, GO:0070471, GO:0070371, GO:0061098, GO:0061049, GO:0051969, GO:0051924, GO:0051403, GO:0051387, GO:0051092, GO:0050731, GO:0050729, GO:0048659, GO:0048169, GO:0048146, GO:0048144, GO:0046628, GO:0045893, GO:0045777, GO:0045742, GO:0045429, GO:0043407, GO:0042311, GO:0042127, GO:0035815, GO:0035813, GO:0035106, GO:0034374, GO:0034104, GO:0033864, GO:0032930, GO:0032355, GO:0032270, GO:0030308, GO:0019229, GO:0019216, GO:0016525, GO:0014873, GO:0014824, GO:0014068, GO:0014061, GO:0010976, GO:0010951, GO:0010873, GO:0010744, GO:0010666, GO:0010613, GO:0010595, GO:0010536, GO:0008306, GO:0008217, GO:0007568, GO:0007565, GO:0007267, GO:0007263, GO:0007204, GO:0007202, GO:0007200, GO:0007199, GO:0007186, GO:0007186, GO:0007166, GO:0006883, GO:0006606, GO:0003331, GO:0003051, GO:0003014, GO:0002034, GO:0002027, GO:0002019, GO:0002018, GO:0002016, GO:0001974, GO:0001822, GO:0001819, GO:0001816, GO:0001558, GO:0000187, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of reactive oxygen species metabolic process, positive regulation of L-arginine import across plasma membrane, positive regulation of L-lysine import across plasma membrane, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, cellular response to angiotensin, regulation of cardiac conduction, positive regulation of gap junction assembly, regulation of extracellular matrix assembly, positive regulation of branching involved in ureteric bud morphogenesis, cellular response to mechanical stimulus, uterine smooth muscle contraction, ERK1 and ERK2 cascade, positive regulation of protein tyrosine kinase activity, cell growth involved in cardiac muscle cell development, regulation of transmission of nerve impulse, regulation of calcium ion transport, stress-activated MAPK cascade, negative regulation of neurotrophin TRK receptor signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of inflammatory response, smooth muscle cell proliferation, regulation of long-term neuronal synaptic plasticity, positive regulation of fibroblast proliferation, fibroblast proliferation, positive regulation of insulin receptor signaling pathway, positive regulation of transcription, DNA-templated, positive regulation of blood pressure, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of nitric oxide biosynthetic process, negative regulation of MAP kinase activity, vasodilation, regulation of cell population proliferation, positive regulation of renal sodium excretion, regulation of renal sodium excretion, operant conditioning, low-density lipoprotein particle remodeling, negative regulation of tissue remodeling, positive regulation of NAD(P)H oxidase activity, positive regulation of superoxide anion generation, response to estradiol, positive regulation of cellular protein metabolic process, negative regulation of cell growth, regulation of vasoconstriction, regulation of lipid metabolic process, negative regulation of angiogenesis, response to muscle activity involved in regulation of muscle adaptation, artery smooth muscle contraction, positive regulation of phosphatidylinositol 3-kinase signaling, regulation of norepinephrine secretion, positive regulation of neuron projection development, negative regulation of endopeptidase activity, positive regulation of cholesterol esterification, positive regulation of macrophage derived foam cell differentiation, positive regulation of cardiac muscle cell apoptotic process, positive regulation of cardiac muscle hypertrophy, positive regulation of endothelial cell migration, positive regulation of activation of Janus kinase activity, associative learning, regulation of blood pressure, aging, female pregnancy, cell-cell signaling, nitric oxide mediated signal transduction, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cellular sodium ion homeostasis, protein import into nucleus, positive regulation of extracellular matrix constituent secretion, angiotensin-mediated drinking behavior, renal system process, maintenance of blood vessel diameter homeostasis by renin-angiotensin, regulation of heart rate, regulation of renal output by angiotensin, renin-angiotensin regulation of aldosterone production, regulation of blood volume by renin-angiotensin, blood vessel remodeling, kidney development, positive regulation of cytokine production, cytokine production, regulation of cell growth, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000135747 chr1 246945547 247078811 - ZNF670-ZNF695 protein_coding 20 11 14 6 1 4 5 0 3 ENSG00000135749 chr1 232983435 233295713 - PCNX2 protein_coding This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]. 80003 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 61 30 92 170 20 159 128 38 94 ENSG00000135750 chr1 233614004 233672512 + KCNK1 protein_coding This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]. 3775 GO:1902937, GO:0097060, GO:0055037, GO:0043231, GO:0043204, GO:0034705, GO:0030425, GO:0016324, GO:0016021, GO:0008076, GO:0005887, GO:0005887, GO:0005887, GO:0005886, inward rectifier potassium channel complex, synaptic membrane, recycling endosome, intracellular membrane-bounded organelle, perikaryon, potassium channel complex, dendrite, apical plasma membrane, integral component of membrane, voltage-gated potassium channel complex, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0022841, GO:0022841, GO:0005515, GO:0005272, GO:0005267, GO:0005249, GO:0005242, identical protein binding, potassium ion leak channel activity, potassium ion leak channel activity, protein binding, sodium channel activity, potassium channel activity, voltage-gated potassium channel activity, inward rectifier potassium channel activity, GO:0071805, GO:0071805, GO:0061337, GO:0060075, GO:0035725, GO:0030322, GO:0006813, potassium ion transmembrane transport, potassium ion transmembrane transport, cardiac conduction, regulation of resting membrane potential, sodium ion transmembrane transport, stabilization of membrane potential, potassium ion transport, 0 0 0 2 0 0 0 0 0 ENSG00000135763 chr1 229626234 229660199 + URB2 protein_coding 9816 GO:0030496, GO:0016235, GO:0005730, GO:0005730, midbody, aggresome, nucleolus, nucleolus, GO:0042254, ribosome biogenesis, 10 9 27 29 6 31 25 3 6 ENSG00000135766 chr1 231363751 231425044 - EGLN1 protein_coding The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]. 54583 GO:0005829, GO:0005737, GO:0005737, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, GO:0031545, GO:0031545, GO:0031545, GO:0031543, GO:0031543, GO:0031418, GO:0019899, GO:0016706, GO:0008198, GO:0008198, GO:0005515, peptidyl-proline 4-dioxygenase activity, peptidyl-proline 4-dioxygenase activity, peptidyl-proline 4-dioxygenase activity, peptidyl-proline dioxygenase activity, peptidyl-proline dioxygenase activity, L-ascorbic acid binding, enzyme binding, 2-oxoglutarate-dependent dioxygenase activity, ferrous iron binding, ferrous iron binding, protein binding, GO:0071731, GO:0071456, GO:0061418, GO:0055114, GO:0051344, GO:0045765, GO:0043433, GO:0032364, GO:0018401, GO:0018401, GO:0001666, response to nitric oxide, cellular response to hypoxia, regulation of transcription from RNA polymerase II promoter in response to hypoxia, oxidation-reduction process, negative regulation of cyclic-nucleotide phosphodiesterase activity, regulation of angiogenesis, negative regulation of DNA-binding transcription factor activity, oxygen homeostasis, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, response to hypoxia, 3289 2784 2984 1477 2437 1884 1923 2148 1724 ENSG00000135773 chr1 230747384 230802003 + CAPN9 protein_coding Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10753 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0005509, GO:0004198, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, GO:0045214, GO:0007586, GO:0006508, sarcomere organization, digestion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000135775 chr1 230642489 230693982 + COG2 protein_coding This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]. 22796 GO:0032588, GO:0017119, GO:0017119, GO:0017119, GO:0005829, GO:0005795, GO:0000139, trans-Golgi network membrane, Golgi transport complex, Golgi transport complex, Golgi transport complex, cytosol, Golgi stack, Golgi membrane, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:0015031, GO:0007030, GO:0007030, GO:0006891, GO:0006891, GO:0006888, protein transport, Golgi organization, Golgi organization, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 14 27 26 80 16 53 39 19 84 ENSG00000135776 chr1 229516582 229558695 - ABCB10 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]. 23456 GO:0032592, GO:0005743, integral component of mitochondrial membrane, mitochondrial inner membrane, GO:0042802, GO:0042626, GO:0016887, GO:0005524, GO:0005515, identical protein binding, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, protein binding, GO:0055085, GO:0006839, transmembrane transport, mitochondrial transport, 22 60 41 36 43 60 36 37 41 ENSG00000135778 chr1 232950605 232983882 + NTPCR protein_coding The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]. 84284 GO:0016020, membrane, GO:0017111, GO:0005524, GO:0003723, nucleoside-triphosphatase activity, ATP binding, RNA binding, 44 18 40 68 17 36 74 13 33 ENSG00000135801 chr1 229593111 229626047 - TAF5L protein_coding The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 27097 GO:0036464, GO:0033276, GO:0030914, GO:0016607, GO:0005634, GO:0000785, cytoplasmic ribonucleoprotein granule, transcription factor TFTC complex, STAGA complex, nuclear speck, nucleus, chromatin, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:1904672, GO:1903508, GO:0043966, GO:0043966, GO:0006366, GO:0006355, GO:0006355, regulation of somatic stem cell population maintenance, positive regulation of nucleic acid-templated transcription, histone H3 acetylation, histone H3 acetylation, transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 118 126 144 113 105 185 98 92 108 ENSG00000135821 chr1 182381704 182392206 - GLUL protein_coding The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 2752 GO:0097386, GO:0070062, GO:0043679, GO:0043209, GO:0043204, GO:0032991, GO:0005886, GO:0005829, GO:0005829, GO:0005791, GO:0005739, GO:0005737, GO:0005634, glial cell projection, extracellular exosome, axon terminus, myelin sheath, perikaryon, protein-containing complex, plasma membrane, cytosol, cytosol, rough endoplasmic reticulum, mitochondrion, cytoplasm, nucleus, GO:0045503, GO:0042802, GO:0030145, GO:0019706, GO:0016595, GO:0005524, GO:0005515, GO:0004356, GO:0004356, GO:0000287, dynein light chain binding, identical protein binding, manganese ion binding, protein-cysteine S-palmitoyltransferase activity, glutamate binding, ATP binding, protein binding, glutamate-ammonia ligase activity, glutamate-ammonia ligase activity, magnesium ion binding, GO:1904749, GO:1903670, GO:0051968, GO:0050679, GO:0042254, GO:0032024, GO:0019676, GO:0018345, GO:0010594, GO:0009749, GO:0009267, GO:0008652, GO:0008283, GO:0006542, GO:0006542, GO:0006538, GO:0001525, GO:0001504, regulation of protein localization to nucleolus, regulation of sprouting angiogenesis, positive regulation of synaptic transmission, glutamatergic, positive regulation of epithelial cell proliferation, ribosome biogenesis, positive regulation of insulin secretion, ammonia assimilation cycle, protein palmitoylation, regulation of endothelial cell migration, response to glucose, cellular response to starvation, cellular amino acid biosynthetic process, cell population proliferation, glutamine biosynthetic process, glutamine biosynthetic process, glutamate catabolic process, angiogenesis, neurotransmitter uptake, 45162 51097 52268 65271 104927 103542 79549 88805 89050 ENSG00000135823 chr1 180972712 181023121 - STX6 protein_coding 10228 GO:0048471, GO:0045335, GO:0032588, GO:0032588, GO:0031201, GO:0031201, GO:0030285, GO:0030136, GO:0016021, GO:0012505, GO:0005886, GO:0005829, GO:0005802, GO:0005794, GO:0005769, GO:0005654, GO:0000139, perinuclear region of cytoplasm, phagocytic vesicle, trans-Golgi network membrane, trans-Golgi network membrane, SNARE complex, SNARE complex, integral component of synaptic vesicle membrane, clathrin-coated vesicle, integral component of membrane, endomembrane system, plasma membrane, cytosol, trans-Golgi network, Golgi apparatus, early endosome, nucleoplasm, Golgi membrane, GO:0019905, GO:0005515, GO:0005484, GO:0000149, syntaxin binding, protein binding, SNAP receptor activity, SNARE binding, GO:1903827, GO:0090161, GO:0048278, GO:0048193, GO:0042147, GO:0042147, GO:0032880, GO:0032456, GO:0016189, GO:0007032, GO:0006906, GO:0006906, GO:0006886, regulation of cellular protein localization, Golgi ribbon formation, vesicle docking, Golgi vesicle transport, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, regulation of protein localization, endocytic recycling, synaptic vesicle to endosome fusion, endosome organization, vesicle fusion, vesicle fusion, intracellular protein transport, 366 400 512 258 419 419 281 340 294 ENSG00000135824 chr1 182641816 182684576 - RGS8 protein_coding This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008]. 85397 GO:0045202, GO:0043204, GO:0032809, GO:0031234, GO:0030425, GO:0005886, GO:0005634, synapse, perikaryon, neuronal cell body membrane, extrinsic component of cytoplasmic side of plasma membrane, dendrite, plasma membrane, nucleus, GO:0005515, GO:0005096, GO:0003924, protein binding, GTPase activator activity, GTPase activity, GO:0060159, GO:0043547, GO:0009968, GO:0007213, GO:0007186, regulation of dopamine receptor signaling pathway, positive regulation of GTPase activity, negative regulation of signal transduction, G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000135828 chr1 182573634 182589256 - RNASEL protein_coding This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008]. 6041 GO:0016363, GO:0005829, GO:0005759, GO:0005575, nuclear matrix, cytosol, mitochondrial matrix, cellular_component, GO:0046872, GO:0043021, GO:0019843, GO:0005524, GO:0005515, GO:0004672, GO:0004540, GO:0004521, GO:0003723, GO:0003723, metal ion binding, ribonucleoprotein complex binding, rRNA binding, ATP binding, protein binding, protein kinase activity, ribonuclease activity, endoribonuclease activity, RNA binding, RNA binding, GO:0090502, GO:0060338, GO:0060337, GO:0051607, GO:0051607, GO:0051607, GO:0046326, GO:0045944, GO:0045444, GO:0045071, GO:0045071, GO:0043488, GO:0006468, GO:0006397, GO:0006396, GO:0006364, RNA phosphodiester bond hydrolysis, endonucleolytic, regulation of type I interferon-mediated signaling pathway, type I interferon signaling pathway, defense response to virus, defense response to virus, defense response to virus, positive regulation of glucose import, positive regulation of transcription by RNA polymerase II, fat cell differentiation, negative regulation of viral genome replication, negative regulation of viral genome replication, regulation of mRNA stability, protein phosphorylation, mRNA processing, RNA processing, rRNA processing, 1091 713 1158 325 404 475 343 332 417 ENSG00000135829 chr1 182839369 182887751 + DHX9 protein_coding This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]. 1660 GO:1990904, GO:1990904, GO:1990904, GO:0097165, GO:0097165, GO:0070937, GO:0070578, GO:0042788, GO:0036464, GO:0032991, GO:0016604, GO:0016442, GO:0016020, GO:0015629, GO:0005844, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005730, GO:0005726, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005622, ribonucleoprotein complex, ribonucleoprotein complex, ribonucleoprotein complex, nuclear stress granule, nuclear stress granule, CRD-mediated mRNA stability complex, RISC-loading complex, polysomal ribosome, cytoplasmic ribonucleoprotein granule, protein-containing complex, nuclear body, RISC complex, membrane, actin cytoskeleton, polysome, cytosol, centrosome, cytoplasm, cytoplasm, nucleolus, perichromatin fibrils, nucleoplasm, nucleoplasm, nucleus, nucleus, intracellular anatomical structure, GO:1990841, GO:1990825, GO:1990518, GO:1905538, GO:1905172, GO:0070063, GO:0061676, GO:0047429, GO:0046872, GO:0045142, GO:0043138, GO:0043138, GO:0043138, GO:0035613, GO:0035197, GO:0034458, GO:0033679, GO:0031490, GO:0017111, GO:0016887, GO:0016887, GO:0005524, GO:0005515, GO:0003729, GO:0003729, GO:0003727, GO:0003725, GO:0003724, GO:0003724, GO:0003723, GO:0003723, GO:0003723, GO:0003713, GO:0003712, GO:0003697, GO:0003690, GO:0003688, GO:0003678, GO:0003677, GO:0001085, GO:0001069, GO:0000993, GO:0000978, promoter-specific chromatin binding, sequence-specific mRNA binding, single-stranded 3'-5' DNA helicase activity, polysome binding, RISC complex binding, RNA polymerase binding, importin-alpha family protein binding, nucleoside-triphosphate diphosphatase activity, metal ion binding, triplex DNA binding, 3'-5' DNA helicase activity, 3'-5' DNA helicase activity, 3'-5' DNA helicase activity, RNA stem-loop binding, siRNA binding, 3'-5' RNA helicase activity, 3'-5' DNA/RNA helicase activity, chromatin DNA binding, nucleoside-triphosphatase activity, ATPase activity, ATPase activity, ATP binding, protein binding, mRNA binding, mRNA binding, single-stranded RNA binding, double-stranded RNA binding, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, RNA binding, transcription coactivator activity, transcription coregulator activity, single-stranded DNA binding, double-stranded DNA binding, DNA replication origin binding, DNA helicase activity, DNA binding, RNA polymerase II transcription factor binding, regulatory region RNA binding, RNA polymerase II complex binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000767, GO:2000765, GO:2000637, GO:2000373, GO:1905698, GO:1904973, GO:1903608, GO:0071360, GO:0071356, GO:0070934, GO:0070922, GO:0070269, GO:0060760, GO:0051092, GO:0051028, GO:0050729, GO:0050691, GO:0050684, GO:0050684, GO:0050434, GO:0048511, GO:0048146, GO:0046833, GO:0045944, GO:0045944, GO:0045740, GO:0045739, GO:0045089, GO:0045087, GO:0044806, GO:0039695, GO:0034622, GO:0032760, GO:0032755, GO:0032741, GO:0032728, GO:0032727, GO:0032508, GO:0032508, GO:0032508, GO:0032481, GO:0030423, GO:0010501, GO:0006954, GO:0006357, GO:0006353, GO:0006260, GO:0001649, GO:0000398, GO:0000380, positive regulation of cytoplasmic translation, regulation of cytoplasmic translation, positive regulation of gene silencing by miRNA, positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity, positive regulation of polysome binding, positive regulation of viral translation, protein localization to cytoplasmic stress granule, cellular response to exogenous dsRNA, cellular response to tumor necrosis factor, CRD-mediated mRNA stabilization, small RNA loading onto RISC, pyroptosis, positive regulation of response to cytokine stimulus, positive regulation of NF-kappaB transcription factor activity, mRNA transport, positive regulation of inflammatory response, regulation of defense response to virus by host, regulation of mRNA processing, regulation of mRNA processing, positive regulation of viral transcription, rhythmic process, positive regulation of fibroblast proliferation, positive regulation of RNA export from nucleus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of DNA replication, positive regulation of DNA repair, positive regulation of innate immune response, innate immune response, G-quadruplex DNA unwinding, DNA-templated viral transcription, cellular protein-containing complex assembly, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-18 production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, DNA duplex unwinding, DNA duplex unwinding, DNA duplex unwinding, positive regulation of type I interferon production, targeting of mRNA for destruction involved in RNA interference, RNA secondary structure unwinding, inflammatory response, regulation of transcription by RNA polymerase II, DNA-templated transcription, termination, DNA replication, osteoblast differentiation, mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 784 739 986 894 760 913 720 593 658 ENSG00000135835 chr1 180913154 180951614 + KIAA1614 protein_coding 57710 GO:0016324, GO:0005938, GO:0005634, apical plasma membrane, cell cortex, nucleus, GO:0031267, GO:0005080, small GTPase binding, protein kinase C binding, GO:0060341, GO:0007163, GO:0007098, regulation of cellular localization, establishment or maintenance of cell polarity, centrosome cycle, 23 73 42 29 82 71 35 61 23 ENSG00000135837 chr1 179954738 180114880 + CEP350 protein_coding The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 9857 GO:0042995, GO:0016020, GO:0005819, GO:0005814, GO:0005813, GO:0005737, GO:0005634, cell projection, membrane, spindle, centriole, centrosome, cytoplasm, nucleus, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:1905515, GO:0071539, GO:0034453, non-motile cilium assembly, protein localization to centrosome, microtubule anchoring, 1981 1914 2296 1028 1158 1400 1110 852 931 ENSG00000135838 chr1 182789293 182830384 + NPL protein_coding This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 80896 GO:0005829, cytosol, GO:0042802, GO:0008747, GO:0005515, identical protein binding, N-acetylneuraminate lyase activity, protein binding, GO:0019262, GO:0019262, GO:0005975, N-acetylneuraminate catabolic process, N-acetylneuraminate catabolic process, carbohydrate metabolic process, 2321 2840 3358 1442 2879 2542 1664 2301 2231 ENSG00000135842 chr1 184790724 184974550 - FAM129A protein_coding This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]. 116496 GO:0070062, GO:0016020, GO:0005886, GO:0005829, GO:0005737, extracellular exosome, membrane, plasma membrane, cytosol, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0045727, GO:0034976, GO:0001934, GO:0001933, positive regulation of translation, response to endoplasmic reticulum stress, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, 19556 17778 22077 6581 9691 9091 8913 7907 8347 ENSG00000135845 chr1 172370189 172444086 - PIGC protein_coding This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]. 5279 GO:0016021, GO:0005789, GO:0000506, GO:0000506, integral component of membrane, endoplasmic reticulum membrane, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, GO:0017176, GO:0003824, phosphatidylinositol N-acetylglucosaminyltransferase activity, catalytic activity, GO:0016254, GO:0006506, GO:0006506, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 79 76 76 61 69 89 51 58 95 ENSG00000135862 chr1 183023460 183145592 + LAMC1 protein_coding Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]. 3915 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0043260, GO:0043259, GO:0005788, GO:0005615, GO:0005606, GO:0005606, GO:0005604, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, laminin-11 complex, laminin-10 complex, endoplasmic reticulum lumen, extracellular space, laminin-1 complex, laminin-1 complex, basement membrane, basement membrane, extracellular region, GO:0030023, GO:0005201, GO:0005201, GO:0005201, GO:0005201, extracellular matrix constituent conferring elasticity, extracellular matrix structural constituent, extracellular matrix structural constituent, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0065003, GO:0050679, GO:0044267, GO:0043687, GO:0035633, GO:0034446, GO:0034446, GO:0031581, GO:0030198, GO:0022617, GO:0016477, GO:0016477, GO:0009888, GO:0009887, GO:0007492, GO:0007155, protein-containing complex assembly, positive regulation of epithelial cell proliferation, cellular protein metabolic process, post-translational protein modification, maintenance of blood-brain barrier, substrate adhesion-dependent cell spreading, substrate adhesion-dependent cell spreading, hemidesmosome assembly, extracellular matrix organization, extracellular matrix disassembly, cell migration, cell migration, tissue development, animal organ morphogenesis, endoderm development, cell adhesion, 0 2 3 2 10 9 0 3 2 ENSG00000135870 chr1 173931214 174022297 - RC3H1 protein_coding This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 149041 GO:0010494, GO:0010494, GO:0000932, cytoplasmic stress granule, cytoplasmic stress granule, P-body, GO:0061630, GO:0061630, GO:0035613, GO:0035613, GO:0035613, GO:0035198, GO:0008270, GO:0005515, GO:0004842, GO:0003730, GO:0003729, GO:0003725, GO:0003725, GO:0003723, ubiquitin protein ligase activity, ubiquitin protein ligase activity, RNA stem-loop binding, RNA stem-loop binding, RNA stem-loop binding, miRNA binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, mRNA 3'-UTR binding, mRNA binding, double-stranded RNA binding, double-stranded RNA binding, RNA binding, GO:2000628, GO:2000320, GO:1901224, GO:0071347, GO:0061470, GO:0061158, GO:0061014, GO:0050856, GO:0050852, GO:0048536, GO:0048535, GO:0046007, GO:0045623, GO:0043488, GO:0043488, GO:0043029, GO:0042098, GO:0033962, GO:0030889, GO:0010608, GO:0006511, GO:0002635, GO:0002634, GO:0001782, GO:0000956, GO:0000956, GO:0000288, GO:0000288, GO:0000209, GO:0000209, regulation of miRNA metabolic process, negative regulation of T-helper 17 cell differentiation, positive regulation of NIK/NF-kappaB signaling, cellular response to interleukin-1, T follicular helper cell differentiation, 3'-UTR-mediated mRNA destabilization, positive regulation of mRNA catabolic process, regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, spleen development, lymph node development, negative regulation of activated T cell proliferation, negative regulation of T-helper cell differentiation, regulation of mRNA stability, regulation of mRNA stability, T cell homeostasis, T cell proliferation, P-body assembly, negative regulation of B cell proliferation, posttranscriptional regulation of gene expression, ubiquitin-dependent protein catabolic process, negative regulation of germinal center formation, regulation of germinal center formation, B cell homeostasis, nuclear-transcribed mRNA catabolic process, nuclear-transcribed mRNA catabolic process, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, protein polyubiquitination, protein polyubiquitination, 2734 2847 3456 1874 2902 2680 2289 1887 2095 ENSG00000135898 chr2 230907318 230961066 - GPR55 protein_coding This gene belongs to the G-protein-coupled receptor superfamily. The encoded integral membrane protein is a likely cannabinoid receptor. It may be involved in several physiological and pathological processes by activating a variety of signal transduction pathways. [provided by RefSeq, Aug 2013]. 9290 GO:0005887, GO:0005887, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0004949, GO:0004949, GO:0004930, cannabinoid receptor activity, cannabinoid receptor activity, G protein-coupled receptor activity, GO:0070374, GO:0051482, GO:0045671, GO:0045453, GO:0038171, GO:0035025, GO:0035025, GO:0007202, GO:0007202, GO:0007186, positive regulation of ERK1 and ERK2 cascade, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, negative regulation of osteoclast differentiation, bone resorption, cannabinoid signaling pathway, positive regulation of Rho protein signal transduction, positive regulation of Rho protein signal transduction, activation of phospholipase C activity, activation of phospholipase C activity, G protein-coupled receptor signaling pathway, 4 7 20 9 2 18 3 2 23 ENSG00000135899 chr2 230167293 230225729 - SP110 protein_coding The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]. 3431 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0003677, GO:0000981, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0016032, GO:0006357, viral process, regulation of transcription by RNA polymerase II, 2919 2480 3318 1375 2433 2046 1807 1920 1812 ENSG00000135900 chr2 223957404 223967714 + MRPL44 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 65080 GO:0005886, GO:0005762, GO:0005743, GO:0005739, GO:0005654, GO:0005634, plasma membrane, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleoplasm, nucleus, GO:0005515, GO:0004525, GO:0003725, GO:0003723, protein binding, ribonuclease III activity, double-stranded RNA binding, RNA binding, GO:0090502, GO:0070126, GO:0070125, GO:0070125, GO:0031054, GO:0031053, GO:0030422, GO:0006396, RNA phosphodiester bond hydrolysis, endonucleolytic, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translational elongation, pre-miRNA processing, primary miRNA processing, production of siRNA involved in RNA interference, RNA processing, 101 74 154 48 53 55 57 48 46 ENSG00000135902 chr2 232525993 232536667 + CHRND protein_coding The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. 1144 GO:0099060, GO:0045211, GO:0045202, GO:0043005, GO:0031594, GO:0031594, GO:0005892, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005654, integral component of postsynaptic specialization membrane, postsynaptic membrane, synapse, neuron projection, neuromuscular junction, neuromuscular junction, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, GO:1904315, GO:1904315, GO:0042166, GO:0030594, GO:0022848, GO:0004888, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, transmembrane signaling receptor activity, GO:0060079, GO:0050905, GO:0050881, GO:0050877, GO:0048630, GO:0042391, GO:0034220, GO:0007268, GO:0007165, GO:0006936, GO:0006812, GO:0003009, excitatory postsynaptic potential, neuromuscular process, musculoskeletal movement, nervous system process, skeletal muscle tissue growth, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, signal transduction, muscle contraction, cation transport, skeletal muscle contraction, 1 0 0 0 1 0 6 0 0 ENSG00000135903 chr2 222199888 222298996 - PAX3 protein_coding This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]. 5077 GO:0005654, GO:0005654, GO:0000785, GO:0000785, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0071837, GO:0043565, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, HMG box domain binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048856, GO:0045944, GO:0045893, GO:0009887, GO:0007605, GO:0007517, GO:0007399, GO:0006915, GO:0006357, anatomical structure development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, animal organ morphogenesis, sensory perception of sound, muscle organ development, nervous system development, apoptotic process, regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 0 0 0 ENSG00000135905 chr2 224765090 225042445 - DOCK10 protein_coding This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014]. 55619 GO:0070062, GO:0043197, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, dendritic spine, membrane, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0005085, GO:0003674, protein binding, guanyl-nucleotide exchange factor activity, molecular_function, GO:0060997, GO:0043547, GO:0030334, GO:0007264, GO:0002315, GO:0001782, dendritic spine morphogenesis, positive regulation of GTPase activity, regulation of cell migration, small GTPase mediated signal transduction, marginal zone B cell differentiation, B cell homeostasis, 164 125 337 487 131 550 440 108 397 ENSG00000135912 chr2 218710845 218755416 + TTLL4 protein_coding 9654 GO:0005929, GO:0005874, GO:0005829, cilium, microtubule, cytosol, GO:0070740, GO:0070739, GO:0015631, GO:0015631, GO:0005524, tubulin-glutamic acid ligase activity, protein-glutamic acid ligase activity, tubulin binding, tubulin binding, ATP binding, GO:0120222, GO:0018200, GO:0018095, GO:0018095, GO:0018095, GO:0000226, regulation of blastocyst development, peptidyl-glutamic acid modification, protein polyglutamylation, protein polyglutamylation, protein polyglutamylation, microtubule cytoskeleton organization, 779 712 929 491 632 534 480 492 444 ENSG00000135913 chr2 218450251 218568361 - USP37 protein_coding 57695 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0019901, GO:0005515, GO:0004843, GO:0004843, GO:0004197, GO:0004197, protein kinase binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:0071108, GO:0051301, GO:0035871, GO:0016579, GO:0016579, GO:0016579, GO:0016579, GO:0006511, GO:0006275, GO:0000082, GO:0000082, protein K48-linked deubiquitination, cell division, protein K11-linked deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, regulation of DNA replication, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 83 68 128 93 99 113 92 57 97 ENSG00000135914 chr2 231108230 231125118 - HTR2B protein_coding This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]. 3357 GO:0098666, GO:0098666, GO:0045202, GO:0030425, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005654, G protein-coupled serotonin receptor complex, G protein-coupled serotonin receptor complex, synapse, dendrite, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleoplasm, GO:0051378, GO:0030594, GO:0005515, GO:0005096, GO:0004993, GO:0004993, GO:0004993, GO:0001965, GO:0001587, serotonin binding, neurotransmitter receptor activity, protein binding, GTPase activator activity, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, G-protein alpha-subunit binding, Gq/11-coupled serotonin receptor activity, GO:0098664, GO:0098664, GO:0071502, GO:0070528, GO:0070374, GO:0070371, GO:0060548, GO:0051781, GO:0051209, GO:0051209, GO:0051209, GO:0051000, GO:0050795, GO:0048598, GO:0043547, GO:0043406, GO:0043123, GO:0043066, GO:0042493, GO:0042493, GO:0042310, GO:0019934, GO:0019722, GO:0016310, GO:0014827, GO:0014065, GO:0014033, GO:0010513, GO:0010507, GO:0008284, GO:0008284, GO:0007610, GO:0007268, GO:0007208, GO:0007205, GO:0007202, GO:0007200, GO:0007187, GO:0007186, GO:0007186, GO:0006874, GO:0003300, GO:0003007, GO:0002031, GO:0001938, GO:0001819, GO:0001819, GO:0001755, G protein-coupled serotonin receptor signaling pathway, G protein-coupled serotonin receptor signaling pathway, cellular response to temperature stimulus, protein kinase C signaling, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, negative regulation of cell death, positive regulation of cell division, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, positive regulation of nitric-oxide synthase activity, regulation of behavior, embryonic morphogenesis, positive regulation of GTPase activity, positive regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, response to drug, response to drug, vasoconstriction, cGMP-mediated signaling, calcium-mediated signaling, phosphorylation, intestine smooth muscle contraction, phosphatidylinositol 3-kinase signaling, neural crest cell differentiation, positive regulation of phosphatidylinositol biosynthetic process, negative regulation of autophagy, positive regulation of cell population proliferation, positive regulation of cell population proliferation, behavior, chemical synaptic transmission, phospholipase C-activating serotonin receptor signaling pathway, protein kinase C-activating G protein-coupled receptor signaling pathway, activation of phospholipase C activity, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cellular calcium ion homeostasis, cardiac muscle hypertrophy, heart morphogenesis, G protein-coupled receptor internalization, positive regulation of endothelial cell proliferation, positive regulation of cytokine production, positive regulation of cytokine production, neural crest cell migration, 1 3 1 4 4 2 7 1 0 ENSG00000135916 chr2 230864639 230879248 + ITM2C protein_coding 81618 GO:0070062, GO:0048471, GO:0016021, GO:0005886, GO:0005886, GO:0005794, GO:0005794, GO:0005765, GO:0005764, extracellular exosome, perinuclear region of cytoplasm, integral component of membrane, plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, lysosomal membrane, lysosome, GO:0005524, GO:0005515, GO:0001540, GO:0001540, ATP binding, protein binding, amyloid-beta binding, amyloid-beta binding, GO:2001238, GO:0042985, GO:0030182, GO:0010977, positive regulation of extrinsic apoptotic signaling pathway, negative regulation of amyloid precursor protein biosynthetic process, neuron differentiation, negative regulation of neuron projection development, 28 46 60 50 23 24 45 35 47 ENSG00000135917 chr2 227683763 227718031 - SLC19A3 protein_coding This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]. 80704 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0015234, GO:0015234, GO:0005515, thiamine transmembrane transporter activity, thiamine transmembrane transporter activity, protein binding, GO:0071934, GO:0055085, GO:0042723, thiamine transmembrane transport, transmembrane transport, thiamine-containing compound metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000135919 chr2 223975112 224039319 - SERPINE2 protein_coding This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 5270 GO:1903561, GO:0062023, GO:0062023, GO:0031594, GO:0031232, GO:0031091, GO:0031091, GO:0005829, GO:0005615, GO:0005576, GO:0005576, extracellular vesicle, collagen-containing extracellular matrix, collagen-containing extracellular matrix, neuromuscular junction, extrinsic component of external side of plasma membrane, platelet alpha granule, platelet alpha granule, cytosol, extracellular space, extracellular region, extracellular region, GO:0008201, GO:0005539, GO:0005515, GO:0005102, GO:0004867, GO:0004867, GO:0004867, heparin binding, glycosaminoglycan binding, protein binding, signaling receptor binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0090331, GO:0061108, GO:0060384, GO:0060291, GO:0051966, GO:0050974, GO:0048711, GO:0048505, GO:0045879, GO:0045861, GO:0042628, GO:0042177, GO:0033363, GO:0032940, GO:0030334, GO:0030308, GO:0030195, GO:0030195, GO:0021683, GO:0014067, GO:0010955, GO:0010951, GO:0010766, GO:0010757, GO:0008285, GO:0007596, negative regulation of platelet aggregation, seminal vesicle epithelium development, innervation, long-term synaptic potentiation, regulation of synaptic transmission, glutamatergic, detection of mechanical stimulus involved in sensory perception, positive regulation of astrocyte differentiation, regulation of timing of cell differentiation, negative regulation of smoothened signaling pathway, negative regulation of proteolysis, mating plug formation, negative regulation of protein catabolic process, secretory granule organization, secretion by cell, regulation of cell migration, negative regulation of cell growth, negative regulation of blood coagulation, negative regulation of blood coagulation, cerebellar granular layer morphogenesis, negative regulation of phosphatidylinositol 3-kinase signaling, negative regulation of protein processing, negative regulation of endopeptidase activity, negative regulation of sodium ion transport, negative regulation of plasminogen activation, negative regulation of cell population proliferation, blood coagulation, 9 9 8 20 9 9 24 6 2 ENSG00000135924 chr2 219279267 219286900 + DNAJB2 protein_coding This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]. 3300 GO:0031965, GO:0031227, GO:0005829, GO:0005829, GO:0005634, GO:0000502, nuclear membrane, intrinsic component of endoplasmic reticulum membrane, cytosol, cytosol, nucleus, proteasome complex, GO:0140036, GO:0051087, GO:0051087, GO:0051082, GO:0051082, GO:0043130, GO:0030544, GO:0030544, GO:0005515, GO:0001671, GO:0001671, ubiquitin-dependent protein binding, chaperone binding, chaperone binding, unfolded protein binding, unfolded protein binding, ubiquitin binding, Hsp70 protein binding, Hsp70 protein binding, protein binding, ATPase activator activity, ATPase activator activity, GO:1903644, GO:0090084, GO:0070050, GO:0061077, GO:0061077, GO:0042026, GO:0042026, GO:0032781, GO:0032436, GO:0032436, GO:0032091, GO:0031396, GO:0030433, GO:0030308, GO:0008285, GO:0006986, regulation of chaperone-mediated protein folding, negative regulation of inclusion body assembly, neuron cellular homeostasis, chaperone-mediated protein folding, chaperone-mediated protein folding, protein refolding, protein refolding, positive regulation of ATPase activity, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein binding, regulation of protein ubiquitination, ubiquitin-dependent ERAD pathway, negative regulation of cell growth, negative regulation of cell population proliferation, response to unfolded protein, 772 1010 898 657 777 876 663 578 585 ENSG00000135925 chr2 218880363 218899581 + WNT10A protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq, Jul 2008]. 80326 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048018, GO:0005125, GO:0005109, receptor ligand activity, cytokine activity, frizzled binding, GO:0071560, GO:0060070, GO:0060070, GO:0048733, GO:0048730, GO:0045165, GO:0043588, GO:0043586, GO:0042487, GO:0042476, GO:0031069, GO:0030182, GO:0016055, GO:0014033, GO:0010628, GO:0001942, cellular response to transforming growth factor beta stimulus, canonical Wnt signaling pathway, canonical Wnt signaling pathway, sebaceous gland development, epidermis morphogenesis, cell fate commitment, skin development, tongue development, regulation of odontogenesis of dentin-containing tooth, odontogenesis, hair follicle morphogenesis, neuron differentiation, Wnt signaling pathway, neural crest cell differentiation, positive regulation of gene expression, hair follicle development, 10 1 14 7 0 7 9 5 3 ENSG00000135926 chr2 218274192 218292586 - TMBIM1 protein_coding 64114 GO:0070062, GO:0043231, GO:0035579, GO:0016021, GO:0010008, GO:0005886, GO:0005794, GO:0005765, GO:0005765, extracellular exosome, intracellular membrane-bounded organelle, specific granule membrane, integral component of membrane, endosome membrane, plasma membrane, Golgi apparatus, lysosomal membrane, lysosomal membrane, GO:0005515, GO:0005123, protein binding, death receptor binding, GO:2000504, GO:1903077, GO:1902045, GO:1902042, GO:0043312, GO:0043086, positive regulation of blood vessel remodeling, negative regulation of protein localization to plasma membrane, negative regulation of Fas signaling pathway, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, neutrophil degranulation, negative regulation of catalytic activity, 1529 2056 2805 477 1183 994 624 1177 935 ENSG00000135929 chr2 218781749 218815293 + CYP27A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]. 1593 GO:0005759, GO:0005743, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0047749, GO:0031073, GO:0031073, GO:0030343, GO:0030343, GO:0020037, GO:0008395, GO:0005506, cholestanetriol 26-monooxygenase activity, cholesterol 26-hydroxylase activity, cholesterol 26-hydroxylase activity, vitamin D3 25-hydroxylase activity, vitamin D3 25-hydroxylase activity, heme binding, steroid hydroxylase activity, iron ion binding, GO:0055114, GO:0036378, GO:0036378, GO:0016125, GO:0008203, GO:0006707, GO:0006707, GO:0006699, GO:0006699, GO:0006699, oxidation-reduction process, calcitriol biosynthetic process from calciol, calcitriol biosynthetic process from calciol, sterol metabolic process, cholesterol metabolic process, cholesterol catabolic process, cholesterol catabolic process, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, 737 520 649 267 405 209 272 295 174 ENSG00000135930 chr2 232550052 232583644 + EIF4E2 protein_coding 9470 GO:0016281, GO:0005845, GO:0005829, GO:0005737, GO:0000932, eukaryotic translation initiation factor 4F complex, mRNA cap binding complex, cytosol, cytoplasm, P-body, GO:0031625, GO:0008135, GO:0005515, GO:0003743, GO:0003723, GO:0000340, GO:0000339, ubiquitin protein ligase binding, translation factor activity, RNA binding, protein binding, translation initiation factor activity, RNA binding, RNA 7-methylguanosine cap binding, RNA cap binding, GO:1905618, GO:0031047, GO:0017148, GO:0006413, GO:0001701, positive regulation of miRNA mediated inhibition of translation, gene silencing by RNA, negative regulation of translation, translational initiation, in utero embryonic development, 371 359 457 265 313 311 274 311 254 ENSG00000135931 chr2 231198546 231374837 + ARMC9 protein_coding 80210 GO:0097542, GO:0097542, GO:0070062, GO:0036064, GO:0036064, GO:0005814, GO:0005814, GO:0005737, ciliary tip, ciliary tip, extracellular exosome, ciliary basal body, ciliary basal body, centriole, centriole, cytoplasm, GO:0060271, GO:0060271, GO:0045880, cilium assembly, cilium assembly, positive regulation of smoothened signaling pathway, 0 0 2 0 0 0 0 0 2 ENSG00000135932 chr2 230712845 230821075 + CAB39 protein_coding 51719 GO:1904813, GO:1902554, GO:0070062, GO:0034774, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, serine/threonine protein kinase complex, extracellular exosome, secretory granule lumen, cytosol, extracellular region, GO:0043539, GO:0043539, GO:0030295, GO:0019900, GO:0005515, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, protein kinase activator activity, kinase binding, protein binding, GO:1901380, GO:1901017, GO:0071902, GO:0071476, GO:0043312, GO:0035556, GO:0035556, GO:0032147, GO:0023014, GO:0018105, GO:0010800, GO:0007050, negative regulation of potassium ion transmembrane transport, negative regulation of potassium ion transmembrane transporter activity, positive regulation of protein serine/threonine kinase activity, cellular hypotonic response, neutrophil degranulation, intracellular signal transduction, intracellular signal transduction, activation of protein kinase activity, signal transduction by protein phosphorylation, peptidyl-serine phosphorylation, positive regulation of peptidyl-threonine phosphorylation, cell cycle arrest, 2252 2347 2376 1122 1843 1689 1416 1531 1522 ENSG00000135940 chr2 97646040 97648383 + COX5B protein_coding Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]. 1329 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0046872, GO:0005515, GO:0004129, metal ion binding, protein binding, cytochrome-c oxidase activity, GO:0042776, GO:0007585, GO:0006123, GO:0006123, mitochondrial ATP synthesis coupled proton transport, respiratory gaseous exchange by respiratory system, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, 620 520 661 239 386 299 299 423 316 ENSG00000135945 chr2 99400475 99490035 - REV1 protein_coding This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]. 51455 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0017125, GO:0017125, GO:0005515, GO:0003887, GO:0003684, metal ion binding, deoxycytidyl transferase activity, deoxycytidyl transferase activity, protein binding, DNA-directed DNA polymerase activity, damaged DNA binding, GO:0070987, GO:0042276, GO:0042276, GO:0019985, GO:0009411, GO:0006260, error-free translesion synthesis, error-prone translesion synthesis, error-prone translesion synthesis, translesion synthesis, response to UV, DNA replication, 247 223 339 326 308 428 237 232 388 ENSG00000135951 chr2 98997261 99154964 - TSGA10 protein_coding 80705 GO:0097228, GO:0043005, GO:0035686, GO:0005814, GO:0005737, GO:0005575, sperm principal piece, neuron projection, sperm fibrous sheath, centriole, cytoplasm, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0030031, GO:0007283, cell projection assembly, spermatogenesis, 11 10 16 58 41 48 81 34 48 ENSG00000135953 chr2 102715840 102736888 - MFSD9 protein_coding 84804 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, transmembrane transport, 39 122 47 39 123 75 30 105 39 ENSG00000135956 chr2 96248516 96265994 - TMEM127 protein_coding This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]. 55654 GO:0016021, GO:0016020, GO:0005886, GO:0005769, GO:0005737, integral component of membrane, membrane, plasma membrane, early endosome, cytoplasm, GO:0031267, GO:0003674, small GTPase binding, molecular_function, GO:0032007, GO:0032006, GO:0008285, GO:0007032, negative regulation of TOR signaling, regulation of TOR signaling, negative regulation of cell population proliferation, endosome organization, 5814 6016 6740 1253 2702 2241 1755 2528 1932 ENSG00000135960 chr2 108894471 108989372 - EDAR protein_coding This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]. 10913 GO:0045177, GO:0016021, GO:0005886, GO:0005886, apical part of cell, integral component of membrane, plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0004888, GO:0004888, signaling receptor activity, protein binding, transmembrane signaling receptor activity, transmembrane signaling receptor activity, GO:1901224, GO:0060662, GO:0046330, GO:0043473, GO:0043123, GO:0042475, GO:0033209, GO:0030154, GO:0010628, GO:0008544, GO:0006915, GO:0001942, positive regulation of NIK/NF-kappaB signaling, salivary gland cavitation, positive regulation of JNK cascade, pigmentation, positive regulation of I-kappaB kinase/NF-kappaB signaling, odontogenesis of dentin-containing tooth, tumor necrosis factor-mediated signaling pathway, cell differentiation, positive regulation of gene expression, epidermis development, apoptotic process, hair follicle development, 4 5 4 18 5 29 23 7 31 ENSG00000135966 chr2 105264391 105330034 - TGFBRAP1 protein_coding This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]. 9392 GO:0043231, GO:0033263, GO:0016020, GO:0016020, GO:0005769, GO:0005737, intracellular membrane-bounded organelle, CORVET complex, membrane, membrane, early endosome, cytoplasm, GO:0046332, GO:0031267, GO:0005515, GO:0005160, SMAD binding, small GTPase binding, protein binding, transforming growth factor beta receptor binding, GO:0034058, GO:0034058, GO:0008333, GO:0007179, GO:0007165, GO:0006914, GO:0006886, GO:0006355, endosomal vesicle fusion, endosomal vesicle fusion, endosome to lysosome transport, transforming growth factor beta receptor signaling pathway, signal transduction, autophagy, intracellular protein transport, regulation of transcription, DNA-templated, 42 67 86 71 59 79 83 53 52 ENSG00000135968 chr2 108448561 108509415 + GCC2 protein_coding The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. 9648 GO:0016020, GO:0005829, GO:0005802, GO:0005794, GO:0005794, GO:0005654, GO:0005654, membrane, cytosol, trans-Golgi network, Golgi apparatus, Golgi apparatus, nucleoplasm, nucleoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0090161, GO:0090161, GO:0071955, GO:0071955, GO:0070861, GO:0070861, GO:0043001, GO:0042147, GO:0034499, GO:0034499, GO:0034453, GO:0034067, GO:0034067, GO:0031023, GO:0031023, GO:0006622, GO:0006622, Golgi ribbon formation, Golgi ribbon formation, recycling endosome to Golgi transport, recycling endosome to Golgi transport, regulation of protein exit from endoplasmic reticulum, regulation of protein exit from endoplasmic reticulum, Golgi to plasma membrane protein transport, retrograde transport, endosome to Golgi, late endosome to Golgi transport, late endosome to Golgi transport, microtubule anchoring, protein localization to Golgi apparatus, protein localization to Golgi apparatus, microtubule organizing center organization, microtubule organizing center organization, protein targeting to lysosome, protein targeting to lysosome, 1380 1344 1503 871 859 776 881 724 560 ENSG00000135972 chr2 105037983 105099960 + MRPS9 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. [provided by RefSeq, Jul 2008]. 64965 GO:0015935, GO:0005763, GO:0005763, GO:0005763, GO:0005743, GO:0005739, GO:0005730, small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleolus, GO:0005515, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0070126, GO:0070125, GO:0042769, mitochondrial translational termination, mitochondrial translational elongation, DNA damage response, detection of DNA damage, 16 6 35 56 17 34 25 17 32 ENSG00000135973 chr2 105241743 105243049 + GPR45 protein_coding This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008]. 11250 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0007186, GO:0007186, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000135974 chr2 105337359 105349211 + C2orf49 protein_coding 79074 GO:0072669, GO:0072669, GO:0005654, tRNA-splicing ligase complex, tRNA-splicing ligase complex, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0048598, GO:0008150, GO:0006388, embryonic morphogenesis, biological_process, tRNA splicing, via endonucleolytic cleavage and ligation, 353 356 404 136 203 164 146 121 164 ENSG00000135976 chr2 97113496 97250199 + ANKRD36 protein_coding 375248 15 23 41 79 7 82 59 9 46 ENSG00000135999 chr2 148644440 148787568 + EPC2 protein_coding 26122 GO:0032777, Piccolo NuA4 histone acetyltransferase complex, GO:0004402, histone acetyltransferase activity, GO:0016573, GO:0006357, GO:0006281, histone acetylation, regulation of transcription by RNA polymerase II, DNA repair, 481 567 617 403 610 547 456 438 493 ENSG00000136002 chr2 130836916 131047263 + ARHGEF4 protein_coding Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]. 50649 GO:0032587, GO:0005829, ruffle membrane, cytosol, GO:0019904, GO:0005515, GO:0005085, protein domain specific binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0046847, GO:0043065, GO:0035556, GO:0030032, GO:0007186, regulation of small GTPase mediated signal transduction, filopodium assembly, positive regulation of apoptotic process, intracellular signal transduction, lamellipodium assembly, G protein-coupled receptor signaling pathway, 5 4 6 5 12 4 3 6 13 ENSG00000136003 chr12 108562582 108569384 + ISCU protein_coding This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]. 23479 GO:0005829, GO:0005759, GO:0005759, GO:0005739, GO:0005737, GO:0005737, GO:0005634, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, cytoplasm, cytoplasm, nucleus, GO:0060090, GO:0051539, GO:0051537, GO:0008198, GO:0005515, GO:0005506, molecular adaptor activity, 4 iron, 4 sulfur cluster binding, 2 iron, 2 sulfur cluster binding, ferrous iron binding, protein binding, iron ion binding, GO:1904439, GO:1904234, GO:1902958, GO:0044281, GO:0016226, GO:0006879, negative regulation of iron ion import across plasma membrane, positive regulation of aconitate hydratase activity, positive regulation of mitochondrial electron transport, NADH to ubiquinone, small molecule metabolic process, iron-sulfur cluster assembly, cellular iron ion homeostasis, 1124 1038 1030 462 831 473 521 775 489 ENSG00000136010 chr12 105019784 105084577 - ALDH1L2 protein_coding This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]. 160428 GO:0070062, GO:0005759, GO:0005739, GO:0005654, extracellular exosome, mitochondrial matrix, mitochondrion, nucleoplasm, GO:0016742, GO:0016155, GO:0005515, GO:0004029, hydroxymethyl-, formyl- and related transferase activity, formyltetrahydrofolate dehydrogenase activity, protein binding, aldehyde dehydrogenase (NAD+) activity, GO:0055114, GO:0046655, GO:0009258, GO:0009058, GO:0006730, oxidation-reduction process, folic acid metabolic process, 10-formyltetrahydrofolate catabolic process, biosynthetic process, one-carbon metabolic process, 0 2 2 0 0 0 0 0 0 ENSG00000136011 chr12 103587273 103766727 + STAB2 protein_coding This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]. 55576 GO:0030666, GO:0009897, GO:0005887, GO:0005886, GO:0005829, endocytic vesicle membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, cytosol, GO:0030169, GO:0030169, GO:0015035, GO:0005540, GO:0005515, GO:0005509, GO:0005044, GO:0005041, GO:0005041, low-density lipoprotein particle binding, low-density lipoprotein particle binding, protein disulfide oxidoreductase activity, hyaluronic acid binding, protein binding, calcium ion binding, scavenger receptor activity, low-density lipoprotein particle receptor activity, low-density lipoprotein particle receptor activity, GO:0055114, GO:0050830, GO:0042742, GO:0030214, GO:0007155, GO:0006898, GO:0006897, GO:0001525, oxidation-reduction process, defense response to Gram-positive bacterium, defense response to bacterium, hyaluronan catabolic process, cell adhesion, receptor-mediated endocytosis, endocytosis, angiogenesis, 3 0 1 0 7 0 0 1 3 ENSG00000136014 chr12 95516560 95551490 - USP44 protein_coding The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]. 84101 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0008270, GO:0008234, GO:0005515, GO:0004843, GO:0004843, zinc ion binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1904667, GO:0090266, GO:0051301, GO:0043161, GO:0016579, GO:0016579, GO:0007059, GO:0007049, negative regulation of ubiquitin protein ligase activity, regulation of mitotic cell cycle spindle assembly checkpoint, cell division, proteasome-mediated ubiquitin-dependent protein catabolic process, protein deubiquitination, protein deubiquitination, chromosome segregation, cell cycle, 9 1 4 5 1 8 5 1 0 ENSG00000136021 chr12 100267140 100341724 + SCYL2 protein_coding The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]. 55681 GO:0048471, GO:0030136, GO:0010008, GO:0005794, perinuclear region of cytoplasm, clathrin-coated vesicle, endosome membrane, Golgi apparatus, GO:0005524, GO:0005515, GO:0005102, GO:0004672, ATP binding, protein binding, signaling receptor binding, protein kinase activity, GO:2000370, GO:2000286, GO:0090090, GO:0021860, GO:0008333, GO:0007420, GO:0006468, GO:0002092, positive regulation of clathrin-dependent endocytosis, receptor internalization involved in canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, pyramidal neuron development, endosome to lysosome transport, brain development, protein phosphorylation, positive regulation of receptor internalization, 1783 1250 2622 984 1065 1088 1058 791 726 ENSG00000136026 chr12 106237877 106304279 - CKAP4 protein_coding 10970 GO:0070062, GO:0048471, GO:0042599, GO:0036464, GO:0035579, GO:0035577, GO:0016607, GO:0016021, GO:0016020, GO:0005886, GO:0005856, GO:0005829, GO:0005811, GO:0005791, GO:0005791, GO:0005789, GO:0005788, GO:0005783, extracellular exosome, perinuclear region of cytoplasm, lamellar body, cytoplasmic ribonucleoprotein granule, specific granule membrane, azurophil granule membrane, nuclear speck, integral component of membrane, membrane, plasma membrane, cytoskeleton, cytosol, lipid droplet, rough endoplasmic reticulum, rough endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0003723, RNA binding, GO:0044267, GO:0043687, GO:0043312, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, 3026 2483 5679 461 833 745 578 848 763 ENSG00000136040 chr12 94148723 94307675 + PLXNC1 protein_coding This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]. 10154 GO:0016020, GO:0005887, GO:0005886, GO:0002116, membrane, integral component of plasma membrane, plasma membrane, semaphorin receptor complex, GO:0017154, GO:0005515, GO:0005102, semaphorin receptor activity, protein binding, signaling receptor binding, GO:1902287, GO:0050772, GO:0043087, GO:0030334, GO:0008360, GO:0007162, GO:0007155, semaphorin-plexin signaling pathway involved in axon guidance, positive regulation of axonogenesis, regulation of GTPase activity, regulation of cell migration, regulation of cell shape, negative regulation of cell adhesion, cell adhesion, 9866 7876 11206 2806 3940 3666 4008 3377 3318 ENSG00000136044 chr12 105173296 105236238 - APPL2 protein_coding The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]. 55198 GO:0070062, GO:0044354, GO:0036186, GO:0032587, GO:0032009, GO:0031982, GO:0031901, GO:0031410, GO:0016020, GO:0010008, GO:0010008, GO:0005886, GO:0005768, GO:0005634, GO:0001726, extracellular exosome, macropinosome, early phagosome membrane, ruffle membrane, early phagosome, vesicle, early endosome membrane, cytoplasmic vesicle, membrane, endosome membrane, endosome membrane, plasma membrane, endosome, nucleus, ruffle, GO:0044877, GO:0042803, GO:0042802, GO:0035091, GO:0005515, GO:0001786, protein-containing complex binding, protein homodimerization activity, identical protein binding, phosphatidylinositol binding, protein binding, phosphatidylserine binding, GO:2000178, GO:2000045, GO:1905451, GO:1905303, GO:1900077, GO:1900016, GO:0120162, GO:0060100, GO:0051289, GO:0050768, GO:0046325, GO:0046325, GO:0046322, GO:0045088, GO:0042593, GO:0035729, GO:0034143, GO:0033211, GO:0023052, GO:0010762, GO:0009631, GO:0007179, GO:0007165, GO:0007049, GO:0006606, GO:0002024, negative regulation of neural precursor cell proliferation, regulation of G1/S transition of mitotic cell cycle, positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of macropinocytosis, negative regulation of cellular response to insulin stimulus, negative regulation of cytokine production involved in inflammatory response, positive regulation of cold-induced thermogenesis, positive regulation of phagocytosis, engulfment, protein homotetramerization, negative regulation of neurogenesis, negative regulation of glucose import, negative regulation of glucose import, negative regulation of fatty acid oxidation, regulation of innate immune response, glucose homeostasis, cellular response to hepatocyte growth factor stimulus, regulation of toll-like receptor 4 signaling pathway, adiponectin-activated signaling pathway, signaling, regulation of fibroblast migration, cold acclimation, transforming growth factor beta receptor signaling pathway, signal transduction, cell cycle, protein import into nucleus, diet induced thermogenesis, 668 653 938 624 856 1328 857 675 993 ENSG00000136045 chr12 107685732 107713167 + PWP1 protein_coding The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 11137 GO:0005794, GO:0005730, GO:0005694, GO:0005634, Golgi apparatus, nucleolus, chromosome, nucleus, GO:1990889, H4K20me3 modified histone binding, GO:2000738, GO:1901838, GO:0042254, GO:0034773, GO:0033140, GO:0006351, positive regulation of stem cell differentiation, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, ribosome biogenesis, histone H4-K20 trimethylation, negative regulation of peptidyl-serine phosphorylation of STAT protein, transcription, DNA-templated, 109 125 120 138 167 132 125 143 140 ENSG00000136048 chr12 101877351 102012130 + DRAM1 protein_coding This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]. 55332 GO:0016021, GO:0005765, GO:0005764, GO:0005764, GO:0005737, integral component of membrane, lysosomal membrane, lysosome, lysosome, cytoplasm, GO:0005515, protein binding, GO:0010506, GO:0010506, GO:0006915, GO:0006914, regulation of autophagy, regulation of autophagy, apoptotic process, autophagy, 312 265 383 215 219 201 229 211 131 ENSG00000136051 chr12 105107324 105169134 + WASHC4 protein_coding This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 23325 GO:0071203, GO:0071203, GO:0031083, GO:0005769, GO:0005768, GO:0005768, GO:0005654, WASH complex, WASH complex, BLOC-1 complex, early endosome, endosome, endosome, nucleoplasm, GO:0016197, GO:0016197, GO:0016197, GO:0015031, GO:0007032, GO:0007032, endosomal transport, endosomal transport, endosomal transport, protein transport, endosome organization, endosome organization, 2333 2296 2933 1865 2971 3076 2148 2054 2493 ENSG00000136052 chr12 104802553 104958744 - SLC41A2 protein_coding 84102 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0072509, GO:0005515, divalent inorganic cation transmembrane transporter activity, protein binding, GO:0098655, GO:0070838, cation transmembrane transport, divalent metal ion transport, 9 40 47 14 37 38 13 33 25 ENSG00000136059 chr3 37988059 38007188 + VILL protein_coding The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]. 50853 GO:0015629, GO:0005737, actin cytoskeleton, cytoplasm, GO:0051015, GO:0005546, GO:0005200, actin filament binding, phosphatidylinositol-4,5-bisphosphate binding, structural constituent of cytoskeleton, GO:0051016, GO:0051014, GO:0008154, barbed-end actin filament capping, actin filament severing, actin polymerization or depolymerization, 26 31 174 68 51 97 50 29 57 ENSG00000136068 chr3 58008400 58172251 + FLNB protein_coding This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]. 2317 GO:0070062, GO:0045335, GO:0030018, GO:0016021, GO:0015629, GO:0005938, GO:0005925, GO:0005903, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0001725, extracellular exosome, phagocytic vesicle, Z disc, integral component of membrane, actin cytoskeleton, cell cortex, focal adhesion, brush border, plasma membrane, cytosol, cytosol, cytoplasm, stress fiber, GO:0045296, GO:0042802, GO:0005515, GO:0003779, GO:0003723, cadherin binding, identical protein binding, protein binding, actin binding, RNA binding, GO:0071346, GO:0030036, GO:0007519, GO:0007165, GO:0003382, GO:0003334, cellular response to interferon-gamma, actin cytoskeleton organization, skeletal muscle tissue development, signal transduction, epithelial cell morphogenesis, keratinocyte development, 75 67 126 147 41 122 123 41 107 ENSG00000136098 chr13 52132639 52159861 - NEK3 protein_coding This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019]. 4752 GO:0030424, GO:0005737, GO:0005634, axon, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0090043, GO:0051301, GO:0048812, GO:0030010, GO:0006468, GO:0000278, regulation of tubulin deacetylation, cell division, neuron projection morphogenesis, establishment of cell polarity, protein phosphorylation, mitotic cell cycle, 3 6 4 11 8 8 13 3 6 ENSG00000136099 chr13 52842889 52848641 - PCDH8 protein_coding This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]. 5100 GO:0098978, GO:0045211, GO:0042734, GO:0030425, GO:0005887, GO:0005886, glutamatergic synapse, postsynaptic membrane, presynaptic membrane, dendrite, integral component of plasma membrane, plasma membrane, GO:0005509, calcium ion binding, GO:0099179, GO:0016331, GO:0007268, GO:0007267, GO:0007156, GO:0007155, GO:0001756, regulation of synaptic membrane adhesion, morphogenesis of embryonic epithelium, chemical synaptic transmission, cell-cell signaling, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, somitogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000136100 chr13 52412602 52450628 - VPS36 protein_coding This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]. 51028 GO:0070062, GO:0031902, GO:0031902, GO:0005829, GO:0005829, GO:0005768, GO:0005764, GO:0005634, GO:0000814, GO:0000814, GO:0000814, extracellular exosome, late endosome membrane, late endosome membrane, cytosol, cytosol, endosome, lysosome, nucleus, ESCRT II complex, ESCRT II complex, ESCRT II complex, GO:0043130, GO:0043130, GO:0032266, GO:0008022, GO:0005515, ubiquitin binding, ubiquitin binding, phosphatidylinositol-3-phosphate binding, protein C-terminus binding, protein binding, GO:0043328, GO:0036258, GO:0016236, GO:0016197, protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, multivesicular body assembly, macroautophagy, endosomal transport, 149 107 160 194 156 241 223 140 151 ENSG00000136104 chr13 50909678 51024120 + RNASEH2B protein_coding RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]. 79621 GO:0032299, GO:0032299, GO:0005654, GO:0005654, ribonuclease H2 complex, ribonuclease H2 complex, nucleoplasm, nucleoplasm, GO:2000001, GO:0090502, GO:0048146, GO:0010629, GO:0010389, GO:0009259, GO:0006401, GO:0006401, GO:0001701, regulation of DNA damage checkpoint, RNA phosphodiester bond hydrolysis, endonucleolytic, positive regulation of fibroblast proliferation, negative regulation of gene expression, regulation of G2/M transition of mitotic cell cycle, ribonucleotide metabolic process, RNA catabolic process, RNA catabolic process, in utero embryonic development, 79 149 75 204 194 239 168 145 172 ENSG00000136108 chr13 52455429 52476628 + CKAP2 protein_coding This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]. 26586 GO:0015630, GO:0005881, GO:0005829, GO:0005813, GO:0000922, microtubule cytoskeleton, cytoplasmic microtubule, cytosol, centrosome, spindle pole, GO:0045944, GO:0007026, GO:0006915, GO:0000281, positive regulation of transcription by RNA polymerase II, negative regulation of microtubule depolymerization, apoptotic process, mitotic cytokinesis, 45 20 70 66 20 51 67 14 62 ENSG00000136110 chr13 52703264 52739812 - CNMD protein_coding This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 11061 GO:0016021, GO:0012505, GO:0005576, integral component of membrane, endomembrane system, extracellular region, GO:0051216, GO:0030948, GO:0016525, GO:0016525, GO:0006029, GO:0001937, GO:0001886, GO:0001501, cartilage development, negative regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of angiogenesis, negative regulation of angiogenesis, proteoglycan metabolic process, negative regulation of endothelial cell proliferation, endothelial cell morphogenesis, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000136111 chr13 75283503 75482114 - TBC1D4 protein_coding This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 9882 GO:0031982, GO:0005829, vesicle, cytosol, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:0090630, GO:0032869, GO:0031339, GO:0016192, GO:0006886, activation of GTPase activity, cellular response to insulin stimulus, negative regulation of vesicle fusion, vesicle-mediated transport, intracellular protein transport, 92 70 184 267 71 245 215 49 126 ENSG00000136114 chr13 52377167 52416373 - THSD1 protein_coding The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]. 55901 GO:0071944, GO:0016021, GO:0010008, GO:0005925, GO:0005829, GO:0005768, GO:0005576, cell periphery, integral component of membrane, endosome membrane, focal adhesion, cytosol, endosome, extracellular region, GO:0050840, GO:0005515, extracellular matrix binding, protein binding, GO:0048041, focal adhesion assembly, 1 0 0 2 1 0 3 9 1 ENSG00000136122 chr13 72727749 72756198 + BORA protein_coding BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]. 79866 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0019901, GO:0019901, GO:0005515, protein kinase binding, protein kinase binding, protein binding, GO:0060236, GO:0060236, GO:0051301, GO:0032880, GO:0032147, GO:0007088, GO:0007088, GO:0000086, regulation of mitotic spindle organization, regulation of mitotic spindle organization, cell division, regulation of protein localization, activation of protein kinase activity, regulation of mitotic nuclear division, regulation of mitotic nuclear division, G2/M transition of mitotic cell cycle, 10 16 14 32 17 32 15 9 23 ENSG00000136141 chr13 46553168 46753040 + LRCH1 protein_coding This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]. 23143 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:2000405, GO:2000405, GO:1990869, GO:1990869, GO:0034260, negative regulation of T cell migration, negative regulation of T cell migration, cellular response to chemokine, cellular response to chemokine, negative regulation of GTPase activity, 105 114 199 111 110 221 133 119 155 ENSG00000136143 chr13 47745736 48037968 - SUCLA2 protein_coding Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]. 8803 GO:0070062, GO:0042709, GO:0005759, GO:0005739, GO:0005739, GO:0005739, extracellular exosome, succinate-CoA ligase complex, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0005524, GO:0005515, GO:0004776, GO:0004775, GO:0000287, ATP binding, protein binding, succinate-CoA ligase (GDP-forming) activity, succinate-CoA ligase (ADP-forming) activity, magnesium ion binding, GO:0006781, GO:0006105, GO:0006104, GO:0006099, GO:0006099, GO:0006099, succinyl-CoA pathway, succinate metabolic process, succinyl-CoA metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, 25 14 25 23 17 19 34 29 19 ENSG00000136144 chr13 49531946 49585583 - RCBTB1 protein_coding This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]. 55213 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0007049, GO:0006325, cell cycle, chromatin organization, 141 188 169 122 273 138 188 196 158 ENSG00000136146 chr13 48053323 48095131 - MED4 protein_coding This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 29079 GO:0070847, GO:0016592, GO:0016020, GO:0005654, GO:0005654, GO:0005634, core mediator complex, mediator complex, membrane, nucleoplasm, nucleoplasm, nucleus, GO:0046966, GO:0042809, GO:0030374, GO:0005515, GO:0003713, GO:0003712, GO:0003712, thyroid hormone receptor binding, vitamin D receptor binding, nuclear receptor coactivator activity, protein binding, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, GO:0060261, GO:0045893, GO:0006367, GO:0006366, GO:0006357, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription, DNA-templated, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 436 356 523 284 301 263 317 255 229 ENSG00000136147 chr13 49495610 49528987 + PHF11 protein_coding This gene encodes a protein containing a PHD (plant homeodomain) type zinc finger. This gene has been identified in some studies as a candidate gene for asthma. Naturally-occurring readthrough transcription may occur from the upstream SETDB2 (SET domain bifurcated 2) gene to this locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 51131 GO:0031965, GO:0005654, GO:0005634, nuclear membrane, nucleoplasm, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, 563 531 720 522 627 649 484 485 621 ENSG00000136149 chr13 54440704 54441315 - RPL13AP25 processed_pseudogene 6 1 4 14 7 7 9 10 10 ENSG00000136152 chr13 45464898 45536630 + COG3 protein_coding This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]. 83548 GO:0032588, GO:0032580, GO:0017119, GO:0017119, GO:0005886, GO:0005829, GO:0005801, GO:0005794, GO:0000139, trans-Golgi network membrane, Golgi cisterna membrane, Golgi transport complex, Golgi transport complex, plasma membrane, cytosol, cis-Golgi network, Golgi apparatus, Golgi membrane, GO:0005515, protein binding, GO:0050821, GO:0033365, GO:0007030, GO:0007030, GO:0007030, GO:0006891, GO:0006891, GO:0006890, GO:0006888, GO:0006888, GO:0006886, GO:0006486, protein stabilization, protein localization to organelle, Golgi organization, Golgi organization, Golgi organization, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, protein glycosylation, 246 216 250 208 285 242 269 213 255 ENSG00000136153 chr13 75620434 75859870 + LMO7 protein_coding This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009]. 4008 GO:0016324, GO:0009986, GO:0005925, GO:0005829, GO:0005737, GO:0005635, GO:0005634, GO:0000151, apical plasma membrane, cell surface, focal adhesion, cytosol, cytoplasm, nuclear envelope, nucleus, ubiquitin ligase complex, GO:0046872, GO:0005515, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0045944, GO:0043687, GO:0030155, GO:0023051, GO:0016567, GO:0000209, positive regulation of transcription by RNA polymerase II, post-translational protein modification, regulation of cell adhesion, regulation of signaling, protein ubiquitination, protein polyubiquitination, 22 11 27 37 15 36 17 6 38 ENSG00000136155 chr13 77535674 77645263 + SCEL protein_coding The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 8796 GO:0070062, GO:0048471, GO:0005737, GO:0005737, GO:0005737, GO:0001533, extracellular exosome, perinuclear region of cytoplasm, cytoplasm, cytoplasm, cytoplasm, cornified envelope, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0090263, GO:0030216, GO:0009792, GO:0009612, GO:0008544, GO:0008544, GO:0008544, positive regulation of canonical Wnt signaling pathway, keratinocyte differentiation, embryo development ending in birth or egg hatching, response to mechanical stimulus, epidermis development, epidermis development, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000136156 chr13 48232612 48270357 + ITM2B protein_coding Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]. 9445 GO:0070062, GO:0043231, GO:0031301, GO:0030660, GO:0016020, GO:0010008, GO:0005886, GO:0005886, GO:0005794, GO:0005794, GO:0005615, GO:0005576, GO:0000139, extracellular exosome, intracellular membrane-bounded organelle, integral component of organelle membrane, Golgi-associated vesicle membrane, membrane, endosome membrane, plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, extracellular space, extracellular region, Golgi membrane, GO:0005524, GO:0005515, GO:0001540, GO:0001540, ATP binding, protein binding, amyloid-beta binding, amyloid-beta binding, GO:0044267, GO:0042985, GO:0042985, GO:0007399, cellular protein metabolic process, negative regulation of amyloid precursor protein biosynthetic process, negative regulation of amyloid precursor protein biosynthetic process, nervous system development, 42238 39730 46556 7659 22369 13634 12237 22692 13946 ENSG00000136158 chr13 80335976 80340951 - SPRY2 protein_coding This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008]. 10253 GO:1990752, GO:0032587, GO:0016020, GO:0015630, GO:0015629, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005829, GO:0005634, microtubule end, ruffle membrane, membrane, microtubule cytoskeleton, actin cytoskeleton, plasma membrane, cytoskeleton, cytosol, cytosol, cytosol, nucleus, GO:0043539, GO:0030291, GO:0019901, GO:0005515, protein serine/threonine kinase activator activity, protein serine/threonine kinase inhibitor activity, protein kinase binding, protein binding, GO:1990830, GO:1902747, GO:1900747, GO:0071902, GO:0070374, GO:0070373, GO:0070373, GO:0070373, GO:0060449, GO:0060437, GO:0051897, GO:0051387, GO:0048513, GO:0046580, GO:0045165, GO:0043407, GO:0043066, GO:0042472, GO:0042059, GO:0040037, GO:0035924, GO:0034260, GO:0033138, GO:0031397, GO:0031345, GO:0030512, GO:0030335, GO:0016525, GO:0010801, GO:0010719, GO:0010628, GO:0008285, GO:0007605, GO:0000132, cellular response to leukemia inhibitory factor, negative regulation of lens fiber cell differentiation, negative regulation of vascular endothelial growth factor signaling pathway, positive regulation of protein serine/threonine kinase activity, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, bud elongation involved in lung branching, lung growth, positive regulation of protein kinase B signaling, negative regulation of neurotrophin TRK receptor signaling pathway, animal organ development, negative regulation of Ras protein signal transduction, cell fate commitment, negative regulation of MAP kinase activity, negative regulation of apoptotic process, inner ear morphogenesis, negative regulation of epidermal growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, cellular response to vascular endothelial growth factor stimulus, negative regulation of GTPase activity, positive regulation of peptidyl-serine phosphorylation, negative regulation of protein ubiquitination, negative regulation of cell projection organization, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, negative regulation of angiogenesis, negative regulation of peptidyl-threonine phosphorylation, negative regulation of epithelial to mesenchymal transition, positive regulation of gene expression, negative regulation of cell population proliferation, sensory perception of sound, establishment of mitotic spindle orientation, 10 10 13 16 13 23 7 24 13 ENSG00000136159 chr13 48037567 48047222 + NUDT15 protein_coding This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]. 55270 GO:0005829, GO:0005829, cytosol, cytosol, GO:0047429, GO:0046872, GO:0036218, GO:0035539, GO:0035539, GO:0035539, GO:0035529, GO:0017110, GO:0008413, GO:0005515, nucleoside-triphosphate diphosphatase activity, metal ion binding, dTTP diphosphatase activity, 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity, 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity, 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity, NADH pyrophosphatase activity, nucleoside-diphosphatase activity, 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity, protein binding, GO:1901292, GO:1901292, GO:0061136, GO:0042738, GO:0042262, GO:0042262, GO:0034656, GO:0006203, GO:0006203, GO:0006195, GO:0000302, GO:0000278, nucleoside phosphate catabolic process, nucleoside phosphate catabolic process, regulation of proteasomal protein catabolic process, exogenous drug catabolic process, DNA protection, DNA protection, nucleobase-containing small molecule catabolic process, dGTP catabolic process, dGTP catabolic process, purine nucleotide catabolic process, response to reactive oxygen species, mitotic cell cycle, 19 26 27 35 18 30 28 25 37 ENSG00000136160 chr13 77895481 77975529 - EDNRB protein_coding The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 1910 GO:0045121, GO:0031965, GO:0005887, GO:0005886, GO:0005886, membrane raft, nuclear membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0031702, GO:0017046, GO:0005515, GO:0004962, GO:0004962, type 1 angiotensin receptor binding, peptide hormone binding, protein binding, endothelin receptor activity, endothelin receptor activity, GO:1990839, GO:0086100, GO:0086100, GO:0071222, GO:0060406, GO:0051930, GO:0050678, GO:0048484, GO:0048265, GO:0048246, GO:0043066, GO:0042311, GO:0042310, GO:0042045, GO:0035815, GO:0035810, GO:0035645, GO:0032269, GO:0031620, GO:0030318, GO:0019934, GO:0019722, GO:0019233, GO:0014826, GO:0014070, GO:0014043, GO:0008284, GO:0008217, GO:0007568, GO:0007497, GO:0007422, GO:0007399, GO:0007204, GO:0007200, GO:0007194, GO:0007186, GO:0007166, GO:0006885, GO:0001934, GO:0001755, GO:0000122, GO:0000122, response to endothelin, endothelin receptor signaling pathway, endothelin receptor signaling pathway, cellular response to lipopolysaccharide, positive regulation of penile erection, regulation of sensory perception of pain, regulation of epithelial cell proliferation, enteric nervous system development, response to pain, macrophage chemotaxis, negative regulation of apoptotic process, vasodilation, vasoconstriction, epithelial fluid transport, positive regulation of renal sodium excretion, positive regulation of urine volume, enteric smooth muscle cell differentiation, negative regulation of cellular protein metabolic process, regulation of fever generation, melanocyte differentiation, cGMP-mediated signaling, calcium-mediated signaling, sensory perception of pain, vein smooth muscle contraction, response to organic cyclic compound, negative regulation of neuron maturation, positive regulation of cell population proliferation, regulation of blood pressure, aging, posterior midgut development, peripheral nervous system development, nervous system development, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, regulation of pH, positive regulation of protein phosphorylation, neural crest cell migration, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 2 0 0 0 0 0 ENSG00000136161 chr13 48488959 48533256 - RCBTB2 protein_coding This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 1102 GO:0001669, acrosomal vesicle, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, 536 578 554 389 683 446 378 556 364 ENSG00000136167 chr13 46125920 46211871 - LCP1 protein_coding Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]. 3936 GO:0070062, GO:0048471, GO:0032587, GO:0032432, GO:0032432, GO:0030175, GO:0030054, GO:0015629, GO:0005925, GO:0005886, GO:0005884, GO:0005884, GO:0005884, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005615, GO:0002102, GO:0001891, GO:0001726, GO:0001726, GO:0001725, extracellular exosome, perinuclear region of cytoplasm, ruffle membrane, actin filament bundle, actin filament bundle, filopodium, cell junction, actin cytoskeleton, focal adhesion, plasma membrane, actin filament, actin filament, actin filament, cytosol, cytoplasm, cytoplasm, cytoplasm, extracellular space, podosome, phagocytic cup, ruffle, ruffle, stress fiber, GO:0051020, GO:0051015, GO:0051015, GO:0051015, GO:0042802, GO:0005509, GO:0005178, GO:0003779, GTPase binding, actin filament binding, actin filament binding, actin filament binding, identical protein binding, calcium ion binding, integrin binding, actin binding, GO:0071803, GO:0051639, GO:0051017, GO:0051017, GO:0051017, GO:0044319, GO:0035722, GO:0033157, GO:0022617, GO:0016477, GO:0010737, GO:0002286, positive regulation of podosome assembly, actin filament network formation, actin filament bundle assembly, actin filament bundle assembly, actin filament bundle assembly, wound healing, spreading of cells, interleukin-12-mediated signaling pathway, regulation of intracellular protein transport, extracellular matrix disassembly, cell migration, protein kinase A signaling, T cell activation involved in immune response, 45059 41306 62522 19405 22011 19789 20665 20116 16147 ENSG00000136169 chr13 49444374 49495003 + SETDB2 protein_coding This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 83852 GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046974, GO:0046974, GO:0008270, GO:0005515, GO:0003677, histone methyltransferase activity (H3-K9 specific), histone methyltransferase activity (H3-K9 specific), zinc ion binding, protein binding, DNA binding, GO:0090309, GO:0070986, GO:0070828, GO:0051567, GO:0051567, GO:0051301, GO:0045892, GO:0010629, GO:0007059, GO:0001947, GO:0000278, positive regulation of DNA methylation-dependent heterochromatin assembly, left/right axis specification, heterochromatin organization, histone H3-K9 methylation, histone H3-K9 methylation, cell division, negative regulation of transcription, DNA-templated, negative regulation of gene expression, chromosome segregation, heart looping, mitotic cell cycle, 75 47 81 172 111 176 107 90 101 ENSG00000136193 chr7 29920103 29990289 - SCRN1 protein_coding This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. 9805 GO:0031965, GO:0005737, GO:0005634, nuclear membrane, cytoplasm, nucleus, GO:0070004, GO:0016805, GO:0005515, GO:0003674, cysteine-type exopeptidase activity, dipeptidase activity, protein binding, molecular_function, GO:0006887, GO:0006508, exocytosis, proteolysis, 27 29 48 52 32 36 61 13 33 ENSG00000136197 chr7 42908726 42912305 - C7orf25 protein_coding 79020 GO:0005515, protein binding, 4 4 0 1 10 10 5 4 3 ENSG00000136205 chr7 47275154 47582558 - TNS3 protein_coding 64759 GO:0005925, GO:0005925, GO:0005829, GO:0005829, focal adhesion, focal adhesion, cytosol, cytosol, GO:0005515, protein binding, GO:0048286, GO:0016477, GO:0008284, lung alveolus development, cell migration, positive regulation of cell population proliferation, 3 14 12 12 26 15 9 14 7 ENSG00000136206 chr7 44000889 44010122 + SPDYE1 protein_coding This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]. 285955 GO:0019901, protein kinase binding, 33 32 54 27 27 12 19 8 23 ENSG00000136213 chr7 2403560 2448483 + CHST12 protein_coding The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]. 55501 GO:0030173, GO:0016020, GO:0000139, integral component of Golgi membrane, membrane, Golgi membrane, GO:0050656, GO:0047756, GO:0008146, 3'-phosphoadenosine 5'-phosphosulfate binding, chondroitin 4-sulfotransferase activity, sulfotransferase activity, GO:0030208, GO:0030206, GO:0030206, GO:0030166, GO:0016051, dermatan sulfate biosynthetic process, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, proteoglycan biosynthetic process, carbohydrate biosynthetic process, 35 38 72 88 39 97 67 27 86 ENSG00000136231 chr7 23310209 23470467 - IGF2BP3 protein_coding The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]. 10643 GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0048027, GO:0045182, GO:0005515, GO:0003730, GO:0003730, GO:0003729, GO:0003723, mRNA 5'-UTR binding, translation regulator activity, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, GO:0051252, GO:0051028, GO:0043488, GO:0017148, GO:0010468, GO:0009653, GO:0007399, GO:0006412, GO:0001817, regulation of RNA metabolic process, mRNA transport, regulation of mRNA stability, negative regulation of translation, regulation of gene expression, anatomical structure morphogenesis, nervous system development, translation, regulation of cytokine production, 9 4 7 2 8 12 6 3 10 ENSG00000136235 chr7 23235967 23275108 + GPNMB protein_coding The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10457 GO:0033162, GO:0031901, GO:0016021, GO:0005887, GO:0005886, melanosome membrane, early endosome membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0048018, GO:0045545, GO:0042056, GO:0008201, GO:0005515, GO:0005178, receptor ligand activity, syndecan binding, chemoattractant activity, heparin binding, protein binding, integrin binding, GO:2000134, GO:1901215, GO:0070374, GO:0050918, GO:0050868, GO:0045765, GO:0042130, GO:0034103, GO:0032720, GO:0031954, GO:0030335, GO:0030282, GO:0008285, GO:0007267, GO:0007165, GO:0007155, GO:0001934, GO:0001818, GO:0001649, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of neuron death, positive regulation of ERK1 and ERK2 cascade, positive chemotaxis, negative regulation of T cell activation, regulation of angiogenesis, negative regulation of T cell proliferation, regulation of tissue remodeling, negative regulation of tumor necrosis factor production, positive regulation of protein autophosphorylation, positive regulation of cell migration, bone mineralization, negative regulation of cell population proliferation, cell-cell signaling, signal transduction, cell adhesion, positive regulation of protein phosphorylation, negative regulation of cytokine production, osteoblast differentiation, 0 0 0 4 0 0 0 0 0 ENSG00000136237 chr7 22118238 22357144 - RAPGEF5 protein_coding Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]. 9771 GO:0016604, GO:0005654, GO:0005634, nuclear body, nucleoplasm, nucleus, GO:0030742, GO:0005085, GO:0005085, GTP-dependent protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0007399, GO:0007264, nervous system development, small GTPase mediated signal transduction, 0 2 0 0 0 2 2 2 0 ENSG00000136238 chr7 6374523 6403977 + RAC1 protein_coding The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 5879 GO:0101003, GO:0098978, GO:0098978, GO:0098794, GO:0098794, GO:0070062, GO:0055038, GO:0043231, GO:0043197, GO:0043197, GO:0042995, GO:0042470, GO:0036464, GO:0032587, GO:0031410, GO:0031234, GO:0030667, GO:0030027, GO:0016020, GO:0005938, GO:0005925, GO:0005886, GO:0005886, GO:0005886, GO:0005884, GO:0005856, GO:0005829, GO:0005829, GO:0005802, GO:0005789, GO:0005737, GO:0000139, ficolin-1-rich granule membrane, glutamatergic synapse, glutamatergic synapse, postsynapse, postsynapse, extracellular exosome, recycling endosome membrane, intracellular membrane-bounded organelle, dendritic spine, dendritic spine, cell projection, melanosome, cytoplasmic ribonucleoprotein granule, ruffle membrane, cytoplasmic vesicle, extrinsic component of cytoplasmic side of plasma membrane, secretory granule membrane, lamellipodium, membrane, cell cortex, focal adhesion, plasma membrane, plasma membrane, plasma membrane, actin filament, cytoskeleton, cytosol, cytosol, trans-Golgi network, endoplasmic reticulum membrane, cytoplasm, Golgi membrane, GO:0051117, GO:0051022, GO:0044877, GO:0042826, GO:0031996, GO:0031267, GO:0019901, GO:0019901, GO:0019899, GO:0005525, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, ATPase binding, Rho GDP-dissociation inhibitor binding, protein-containing complex binding, histone deacetylase binding, thioesterase binding, small GTPase binding, protein kinase binding, protein kinase binding, enzyme binding, GTP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:1902622, GO:1900026, GO:0097178, GO:0090023, GO:0071526, GO:0071260, GO:0060263, GO:0060071, GO:0060071, GO:0051897, GO:0051894, GO:0051668, GO:0051496, GO:0051496, GO:0051492, GO:0051056, GO:0050690, GO:0048870, GO:0048261, GO:0048013, GO:0048012, GO:0048010, GO:0045740, GO:0045453, GO:0045428, GO:0043652, GO:0043312, GO:0038096, GO:0038095, GO:0035774, GO:0035556, GO:0035025, GO:0034446, GO:0032956, GO:0032707, GO:0031529, GO:0031529, GO:0031295, GO:0031116, GO:0030865, GO:0030334, GO:0030041, GO:0030036, GO:0030032, GO:0030031, GO:0016601, GO:0010811, GO:0010764, GO:0010595, GO:0010592, GO:0010592, GO:0010591, GO:0010310, GO:0009653, GO:0009611, GO:0008361, GO:0008361, GO:0008360, GO:0008283, GO:0008045, GO:0007596, GO:0007163, GO:0007160, GO:0007155, GO:0007015, GO:0006954, GO:0003376, GO:0002551, GO:0001934, GO:0001764, regulation of neutrophil migration, positive regulation of substrate adhesion-dependent cell spreading, ruffle assembly, positive regulation of neutrophil chemotaxis, semaphorin-plexin signaling pathway, cellular response to mechanical stimulus, regulation of respiratory burst, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, positive regulation of protein kinase B signaling, positive regulation of focal adhesion assembly, localization within membrane, positive regulation of stress fiber assembly, positive regulation of stress fiber assembly, regulation of stress fiber assembly, regulation of small GTPase mediated signal transduction, regulation of defense response to virus by virus, cell motility, negative regulation of receptor-mediated endocytosis, ephrin receptor signaling pathway, hepatocyte growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of DNA replication, bone resorption, regulation of nitric oxide biosynthetic process, engulfment of apoptotic cell, neutrophil degranulation, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, positive regulation of insulin secretion involved in cellular response to glucose stimulus, intracellular signal transduction, positive regulation of Rho protein signal transduction, substrate adhesion-dependent cell spreading, regulation of actin cytoskeleton organization, negative regulation of interleukin-23 production, ruffle organization, ruffle organization, T cell costimulation, positive regulation of microtubule polymerization, cortical cytoskeleton organization, regulation of cell migration, actin filament polymerization, actin cytoskeleton organization, lamellipodium assembly, cell projection assembly, Rac protein signal transduction, positive regulation of cell-substrate adhesion, negative regulation of fibroblast migration, positive regulation of endothelial cell migration, positive regulation of lamellipodium assembly, positive regulation of lamellipodium assembly, regulation of lamellipodium assembly, regulation of hydrogen peroxide metabolic process, anatomical structure morphogenesis, response to wounding, regulation of cell size, regulation of cell size, regulation of cell shape, cell population proliferation, motor neuron axon guidance, blood coagulation, establishment or maintenance of cell polarity, cell-matrix adhesion, cell adhesion, actin filament organization, inflammatory response, sphingosine-1-phosphate receptor signaling pathway, mast cell chemotaxis, positive regulation of protein phosphorylation, neuron migration, 2150 1738 2367 834 1890 1093 1105 1748 1154 ENSG00000136240 chr7 6445953 6484242 - KDELR2 protein_coding Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 11014 GO:0030663, GO:0030133, GO:0016021, GO:0005801, GO:0005789, GO:0005789, GO:0005783, GO:0000139, GO:0000139, COPI-coated vesicle membrane, transport vesicle, integral component of membrane, cis-Golgi network, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0046923, GO:0005046, ER retention sequence binding, KDEL sequence binding, GO:0015031, GO:0006890, GO:0006890, GO:0006888, GO:0006621, protein transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, protein retention in ER lumen, 223 251 270 113 177 155 136 204 130 ENSG00000136243 chr7 23181827 23201011 + NUPL2 protein_coding 11097 GO:0043657, GO:0031965, GO:0005829, GO:0005829, GO:0005654, GO:0005643, GO:0005635, GO:0005635, GO:0005634, host cell, nuclear membrane, cytosol, cytosol, nucleoplasm, nuclear pore, nuclear envelope, nuclear envelope, nucleus, GO:0046872, GO:0005515, GO:0005049, GO:0005049, GO:0003723, metal ion binding, protein binding, nuclear export signal receptor activity, nuclear export signal receptor activity, RNA binding, GO:1900034, GO:0075733, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006611, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, protein export from nucleus, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 33 27 43 34 36 30 28 13 7 ENSG00000136244 chr7 22725884 22732002 + IL6 protein_coding This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Elevated levels of the encoded protein have been found in virus infections, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Aug 2020]. 3569 GO:0005896, GO:0005788, GO:0005615, GO:0005576, interleukin-6 receptor complex, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005138, GO:0005138, GO:0005138, GO:0005125, GO:0005125, GO:0005125, GO:0005125, growth factor activity, protein binding, interleukin-6 receptor binding, interleukin-6 receptor binding, interleukin-6 receptor binding, cytokine activity, cytokine activity, cytokine activity, cytokine activity, GO:2000676, GO:2000660, GO:2000635, GO:2000553, GO:1904996, GO:1904894, GO:1903978, GO:1903800, GO:1902512, GO:1900017, GO:0150078, GO:0150077, GO:0098586, GO:0097421, GO:0090091, GO:0072574, GO:0072540, GO:0071222, GO:0070301, GO:0070102, GO:0070102, GO:0070092, GO:0070091, GO:0070050, GO:0061888, GO:0061470, GO:0060252, GO:0051607, GO:0051384, GO:0051092, GO:0051091, GO:0050871, GO:0050830, GO:0050829, GO:0050796, GO:0050768, GO:0050731, GO:0048661, GO:0046427, GO:0046427, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045779, GO:0045765, GO:0045727, GO:0045669, GO:0045669, GO:0045599, GO:0044267, GO:0043687, GO:0043410, GO:0043066, GO:0043065, GO:0042593, GO:0042531, GO:0042531, GO:0042102, GO:0035633, GO:0033138, GO:0032966, GO:0032760, GO:0032760, GO:0032757, GO:0032757, GO:0032755, GO:0032740, GO:0032733, GO:0032733, GO:0032731, GO:0032731, GO:0032722, GO:0032722, GO:0032682, GO:0032625, GO:0032494, GO:0031175, GO:0031018, GO:0030168, GO:0019221, GO:0019221, GO:0014823, GO:0010888, GO:0010718, GO:0010628, GO:0010628, GO:0010628, GO:0010575, GO:0010574, GO:0010573, GO:0008285, GO:0008284, GO:0008284, GO:0008284, GO:0006959, GO:0006954, GO:0006954, GO:0006953, GO:0002690, GO:0002675, GO:0002639, GO:0002548, GO:0002446, GO:0002384, GO:0002384, GO:0002377, GO:0002314, GO:0001781, positive regulation of type B pancreatic cell apoptotic process, negative regulation of interleukin-1-mediated signaling pathway, negative regulation of primary miRNA processing, positive regulation of T-helper 2 cell cytokine production, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of receptor signaling pathway via STAT, regulation of microglial cell activation, positive regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of apoptotic DNA fragmentation, positive regulation of cytokine production involved in inflammatory response, positive regulation of neuroinflammatory response, regulation of neuroinflammatory response, cellular response to virus, liver regeneration, positive regulation of extracellular matrix disassembly, hepatocyte proliferation, T-helper 17 cell lineage commitment, cellular response to lipopolysaccharide, cellular response to hydrogen peroxide, interleukin-6-mediated signaling pathway, interleukin-6-mediated signaling pathway, regulation of glucagon secretion, glucagon secretion, neuron cellular homeostasis, regulation of astrocyte activation, T follicular helper cell differentiation, positive regulation of glial cell proliferation, defense response to virus, response to glucocorticoid, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of B cell activation, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, regulation of insulin secretion, negative regulation of neurogenesis, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of smooth muscle cell proliferation, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of bone resorption, regulation of angiogenesis, positive regulation of translation, positive regulation of osteoblast differentiation, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, cellular protein metabolic process, post-translational protein modification, positive regulation of MAPK cascade, negative regulation of apoptotic process, positive regulation of apoptotic process, glucose homeostasis, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of T cell proliferation, maintenance of blood-brain barrier, positive regulation of peptidyl-serine phosphorylation, negative regulation of collagen biosynthetic process, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-17 production, positive regulation of interleukin-10 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 beta production, positive regulation of chemokine production, positive regulation of chemokine production, negative regulation of chemokine production, interleukin-21 production, response to peptidoglycan, neuron projection development, endocrine pancreas development, platelet activation, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, response to activity, negative regulation of lipid storage, positive regulation of epithelial to mesenchymal transition, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of vascular endothelial growth factor production, regulation of vascular endothelial growth factor production, vascular endothelial growth factor production, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, humoral immune response, inflammatory response, inflammatory response, acute-phase response, positive regulation of leukocyte chemotaxis, positive regulation of acute inflammatory response, positive regulation of immunoglobulin production, monocyte chemotaxis, neutrophil mediated immunity, hepatic immune response, hepatic immune response, immunoglobulin production, germinal center B cell differentiation, neutrophil apoptotic process, 0 1 0 3 0 4 0 0 2 ENSG00000136247 chr7 6577434 6589374 + ZDHHC4 protein_coding 55146 GO:0016021, GO:0005886, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0000139, integral component of membrane, plasma membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0019706, GO:0005515, protein-cysteine S-palmitoyltransferase activity, protein binding, GO:0018230, GO:0006612, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 31 17 28 31 26 36 27 12 23 ENSG00000136250 chr7 36512949 36724549 - AOAH protein_coding This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]. 313 GO:0031410, GO:0005576, cytoplasmic vesicle, extracellular region, GO:0050528, GO:0050528, GO:0005515, GO:0005509, GO:0005509, acyloxyacyl hydrolase activity, acyloxyacyl hydrolase activity, protein binding, calcium ion binding, calcium ion binding, GO:0050728, GO:0009104, GO:0009104, GO:0006631, negative regulation of inflammatory response, lipopolysaccharide catabolic process, lipopolysaccharide catabolic process, fatty acid metabolic process, 1483 1726 1856 1007 1896 1497 1191 1512 1186 ENSG00000136261 chr7 16646131 16706523 + BZW2 protein_coding 28969 GO:0016020, GO:0005737, GO:0005737, membrane, cytoplasm, cytoplasm, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0030154, GO:0007399, cell differentiation, nervous system development, 29 26 30 73 39 45 52 31 49 ENSG00000136267 chr7 14145049 14974777 - DGKB protein_coding Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]. 1607 GO:0098685, GO:0045211, GO:0005886, GO:0005886, GO:0005737, Schaffer collateral - CA1 synapse, postsynaptic membrane, plasma membrane, plasma membrane, cytoplasm, GO:0008289, GO:0005524, GO:0005509, GO:0004143, GO:0004143, GO:0003951, lipid binding, ATP binding, calcium ion binding, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:0050804, GO:0046834, GO:0046834, GO:0046486, GO:0046339, GO:0046339, GO:0035556, GO:0030168, GO:0009617, GO:0007205, GO:0006654, modulation of chemical synaptic transmission, lipid phosphorylation, lipid phosphorylation, glycerolipid metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, intracellular signal transduction, platelet activation, response to bacterium, protein kinase C-activating G protein-coupled receptor signaling pathway, phosphatidic acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000136270 chr7 45100100 45112047 - TBRG4 protein_coding 9238 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0090615, GO:0044528, GO:0016071, GO:0008284, GO:0007050, mitochondrial mRNA processing, regulation of mitochondrial mRNA stability, mRNA metabolic process, positive regulation of cell population proliferation, cell cycle arrest, 54 66 91 90 83 91 102 48 103 ENSG00000136271 chr7 44565417 44575051 - DDX56 protein_coding This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]. 54606 GO:0016020, GO:0005730, GO:0005730, membrane, nucleolus, nucleolus, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, GO:0006364, rRNA processing, 122 142 206 256 174 248 219 147 195 ENSG00000136273 chr7 47963288 47979553 - HUS1 protein_coding The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]. 3364 GO:0035861, GO:0030896, GO:0005829, GO:0005730, GO:0005654, GO:0005634, site of double-strand break, checkpoint clamp complex, cytosol, nucleolus, nucleoplasm, nucleus, GO:0005515, protein binding, GO:1901796, GO:0071479, GO:0044778, GO:0033314, GO:0031573, GO:0009792, GO:0009411, GO:0006974, GO:0006468, GO:0006289, GO:0006281, GO:0006260, GO:0001932, GO:0000724, GO:0000723, GO:0000077, regulation of signal transduction by p53 class mediator, cellular response to ionizing radiation, meiotic DNA integrity checkpoint, mitotic DNA replication checkpoint, intra-S DNA damage checkpoint, embryo development ending in birth or egg hatching, response to UV, cellular response to DNA damage stimulus, protein phosphorylation, nucleotide-excision repair, DNA repair, DNA replication, regulation of protein phosphorylation, double-strand break repair via homologous recombination, telomere maintenance, DNA damage checkpoint, 92 41 105 158 57 113 135 55 112 ENSG00000136274 chr7 45080438 45088914 - NACAD protein_coding 23148 GO:0005854, GO:0005737, GO:0005634, nascent polypeptide-associated complex, cytoplasm, nucleus, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:0006612, protein targeting to membrane, 0 1 3 2 3 4 1 7 0 ENSG00000136275 chr7 47795291 47819847 + C7orf69 antisense 80099 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000136279 chr7 44044640 44069456 + DBNL protein_coding 28988 GO:1904813, GO:1904724, GO:0070062, GO:0045211, GO:0043204, GO:0034774, GO:0030864, GO:0030665, GO:0030427, GO:0030425, GO:0030027, GO:0030027, GO:0014069, GO:0005938, GO:0005886, GO:0005884, GO:0005829, GO:0005769, GO:0005737, GO:0005737, GO:0005576, GO:0002102, GO:0001726, GO:0000139, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, postsynaptic membrane, perikaryon, secretory granule lumen, cortical actin cytoskeleton, clathrin-coated vesicle membrane, site of polarized growth, dendrite, lamellipodium, lamellipodium, postsynaptic density, cell cortex, plasma membrane, actin filament, cytosol, early endosome, cytoplasm, cytoplasm, extracellular region, podosome, ruffle, Golgi membrane, GO:0051015, GO:0051015, GO:0045296, GO:0019904, GO:0008047, GO:0008022, GO:0005515, GO:0003779, actin filament binding, actin filament binding, cadherin binding, protein domain specific binding, enzyme activator activity, protein C-terminus binding, protein binding, actin binding, GO:0098974, GO:0097178, GO:0071800, GO:0061003, GO:0048812, GO:0048812, GO:0045773, GO:0043312, GO:0030833, GO:0016601, GO:0007416, GO:0007257, GO:0006898, GO:0002250, postsynaptic actin cytoskeleton organization, ruffle assembly, podosome assembly, positive regulation of dendritic spine morphogenesis, neuron projection morphogenesis, neuron projection morphogenesis, positive regulation of axon extension, neutrophil degranulation, regulation of actin filament polymerization, Rac protein signal transduction, synapse assembly, activation of JUN kinase activity, receptor-mediated endocytosis, adaptive immune response, 4700 4726 6075 2098 3922 3393 2806 3204 2833 ENSG00000136280 chr7 44999475 45076469 + CCM2 protein_coding This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]. 83605 GO:0032991, GO:0005739, GO:0005737, protein-containing complex, mitochondrion, cytoplasm, GO:0005515, protein binding, GO:0061154, GO:0060837, GO:0060039, GO:0051403, GO:0048845, GO:0048839, GO:0045216, GO:0035264, GO:0007229, GO:0001885, GO:0001701, GO:0001570, endothelial tube morphogenesis, blood vessel endothelial cell differentiation, pericardium development, stress-activated MAPK cascade, venous blood vessel morphogenesis, inner ear development, cell-cell junction organization, multicellular organism growth, integrin-mediated signaling pathway, endothelial cell development, in utero embryonic development, vasculogenesis, 881 736 837 910 1151 1014 903 831 867 ENSG00000136286 chr7 44962662 44979098 - MYO1G protein_coding MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]. 64005 GO:0070062, GO:0031982, GO:0031256, GO:0030175, GO:0030027, GO:0016459, GO:0016020, GO:0015629, GO:0005902, GO:0005886, GO:0005886, GO:0005737, GO:0001891, extracellular exosome, vesicle, leading edge membrane, filopodium, lamellipodium, myosin complex, membrane, actin cytoskeleton, microvillus, plasma membrane, plasma membrane, cytoplasm, phagocytic cup, GO:0051015, GO:0043325, GO:0030898, GO:0005547, GO:0005546, GO:0005524, GO:0005516, GO:0000146, actin filament binding, phosphatidylinositol-3,4-bisphosphate binding, actin-dependent ATPase activity, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, ATP binding, calmodulin binding, microfilament motor activity, GO:0120117, GO:0072678, GO:0071976, GO:0038096, GO:0031589, GO:0030050, GO:0007015, GO:0006887, GO:0002456, T cell meandering migration, T cell migration, cell gliding, Fc-gamma receptor signaling pathway involved in phagocytosis, cell-substrate adhesion, vesicle transport along actin filament, actin filament organization, exocytosis, T cell mediated immunity, 582 560 900 771 601 1074 777 514 946 ENSG00000136295 chr7 2631951 2664802 + TTYH3 protein_coding This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq, Jul 2008]. 80727 GO:0070062, GO:0034707, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, chloride channel complex, plasma membrane, plasma membrane, plasma membrane, GO:0072320, GO:0005254, GO:0005229, GO:0005229, volume-sensitive chloride channel activity, chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0034220, GO:0006821, chloride transmembrane transport, ion transmembrane transport, chloride transport, 180 158 405 99 104 265 155 120 223 ENSG00000136297 chr7 4905989 4959213 - MMD2 protein_coding This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]. 221938 GO:0048471, GO:0016021, GO:0000139, perinuclear region of cytoplasm, integral component of membrane, Golgi membrane, GO:0004672, protein kinase activity, GO:0046579, GO:0045860, GO:0045666, GO:0032880, GO:0006468, positive regulation of Ras protein signal transduction, positive regulation of protein kinase activity, positive regulation of neuron differentiation, regulation of protein localization, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000136305 chr14 24305096 24311430 - CIDEB protein_coding 27141 GO:0048471, GO:0005829, perinuclear region of cytoplasm, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0097202, GO:0097194, GO:0090200, GO:0042981, GO:0038183, GO:0031667, GO:0016032, GO:0010942, GO:0008630, GO:0006915, activation of cysteine-type endopeptidase activity, execution phase of apoptosis, positive regulation of release of cytochrome c from mitochondria, regulation of apoptotic process, bile acid signaling pathway, response to nutrient levels, viral process, positive regulation of cell death, intrinsic apoptotic signaling pathway in response to DNA damage, apoptotic process, 330 379 382 210 334 283 192 271 267 ENSG00000136315 chr14 20919361 20920299 + AL355922.1 lincRNA 1 0 0 0 2 0 0 0 0 ENSG00000136319 chr14 20256558 20305994 - TTC5 protein_coding 91875 GO:0005737, GO:0005654, GO:0005654, cytoplasm, nucleoplasm, nucleoplasm, GO:0005515, GO:0003682, GO:0003677, protein binding, chromatin binding, DNA binding, GO:1901796, GO:0045944, GO:0006281, regulation of signal transduction by p53 class mediator, positive regulation of transcription by RNA polymerase II, DNA repair, 10 21 19 40 32 49 51 36 44 ENSG00000136327 chr14 36580579 36582607 - NKX2-8 protein_coding The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increases the expression of AFP. This gene is overexpressed in some lung cancers and is linked to poor patient survival, possibly due to its resistance to cisplatin. This gene is aberrantly methylated in pancreatic cancer, deleted in squamous cell lung carcinomas, and acts as a tumor suppressor in esophageal cancer. Mutations in this gene may also be a cause of neural tube defects. [provided by RefSeq, Dec 2015]. 26257 GO:0005634, GO:0005575, GO:0000785, nucleus, cellular_component, chromatin, GO:1990837, GO:0043565, GO:0003700, GO:0003690, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, DNA-binding transcription factor activity, double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050680, GO:0045944, GO:0030324, GO:0030154, GO:0007409, GO:0006366, GO:0006357, GO:0006351, GO:0001889, negative regulation of epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, lung development, cell differentiation, axonogenesis, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, transcription, DNA-templated, liver development, 0 0 0 0 0 0 0 0 0 ENSG00000136352 chr14 36516392 36521149 - NKX2-1 protein_coding This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]. 7080 GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:0019899, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0001161, GO:0001161, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, GO:0000976, enzyme binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, intronic transcription regulatory region sequence-specific DNA binding, intronic transcription regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060510, GO:0060486, GO:0060441, GO:0060430, GO:0048709, GO:0048646, GO:0048511, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045892, GO:0042753, GO:0033327, GO:0031128, GO:0030900, GO:0030878, GO:0030878, GO:0030512, GO:0030336, GO:0030324, GO:0030154, GO:0021983, GO:0021892, GO:0021877, GO:0021798, GO:0021795, GO:0021766, GO:0021759, GO:0010719, GO:0010628, GO:0009725, GO:0007626, GO:0007492, GO:0007420, GO:0007411, GO:0006644, GO:0006357, GO:0001764, GO:0000122, type II pneumocyte differentiation, club cell differentiation, epithelial tube branching involved in lung morphogenesis, lung saccule development, oligodendrocyte differentiation, anatomical structure formation involved in morphogenesis, rhythmic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of circadian rhythm, Leydig cell differentiation, developmental induction, forebrain development, thyroid gland development, thyroid gland development, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell migration, lung development, cell differentiation, pituitary gland development, cerebral cortex GABAergic interneuron differentiation, forebrain neuron fate commitment, forebrain dorsal/ventral pattern formation, cerebral cortex cell migration, hippocampus development, globus pallidus development, negative regulation of epithelial to mesenchymal transition, positive regulation of gene expression, response to hormone, locomotory behavior, endoderm development, brain development, axon guidance, phospholipid metabolic process, regulation of transcription by RNA polymerase II, neuron migration, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000136367 chr14 23520855 23556192 - ZFHX2 protein_coding 85446 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0008270, GO:0005515, GO:0000981, GO:0000981, GO:0000978, zinc ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051930, GO:0045664, GO:0030534, GO:0007420, GO:0006357, regulation of sensory perception of pain, regulation of neuron differentiation, adult behavior, brain development, regulation of transcription by RNA polymerase II, 8 1 5 2 3 3 1 1 4 ENSG00000136371 chr15 79833585 79897379 - MTHFS protein_coding The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 10588 GO:0005829, GO:0005829, GO:0005759, GO:0005739, GO:0005737, cytosol, cytosol, mitochondrial matrix, mitochondrion, cytoplasm, GO:0046872, GO:0030272, GO:0030272, GO:0030272, GO:0030272, GO:0030272, GO:0005542, GO:0005524, metal ion binding, 5-formyltetrahydrofolate cyclo-ligase activity, 5-formyltetrahydrofolate cyclo-ligase activity, 5-formyltetrahydrofolate cyclo-ligase activity, 5-formyltetrahydrofolate cyclo-ligase activity, 5-formyltetrahydrofolate cyclo-ligase activity, folic acid binding, ATP binding, GO:0046657, GO:0046655, GO:0046653, GO:0035999, GO:0035999, GO:0015942, GO:0009396, GO:0006536, folic acid catabolic process, folic acid metabolic process, tetrahydrofolate metabolic process, tetrahydrofolate interconversion, tetrahydrofolate interconversion, formate metabolic process, folic acid-containing compound biosynthetic process, glutamate metabolic process, 20 23 36 20 23 39 26 24 20 ENSG00000136378 chr15 78759203 78811431 - ADAMTS7 protein_coding The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]. 11173 GO:0031012, GO:0009986, GO:0005788, extracellular matrix, cell surface, endoplasmic reticulum lumen, GO:0046872, GO:0008237, GO:0005515, GO:0004222, GO:0004222, metal ion binding, metallopeptidase activity, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:0071773, GO:0071356, GO:0071347, GO:0051603, GO:0032331, GO:0030198, cellular response to BMP stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-1, proteolysis involved in cellular protein catabolic process, negative regulation of chondrocyte differentiation, extracellular matrix organization, 0 0 0 0 0 0 0 0 0 ENSG00000136379 chr15 80679684 80755621 + ABHD17C protein_coding 58489 GO:0098978, GO:0098839, GO:0055038, GO:0043197, GO:0010008, GO:0005886, glutamatergic synapse, postsynaptic density membrane, recycling endosome membrane, dendritic spine, endosome membrane, plasma membrane, GO:0008474, GO:0008474, GO:0005515, palmitoyl-(protein) hydrolase activity, palmitoyl-(protein) hydrolase activity, protein binding, GO:1905668, GO:1902817, GO:0099175, GO:0002084, GO:0002084, GO:0002084, positive regulation of protein localization to endosome, negative regulation of protein localization to microtubule, regulation of postsynapse organization, protein depalmitoylation, protein depalmitoylation, protein depalmitoylation, 23 8 19 7 5 11 10 2 8 ENSG00000136381 chr15 78437431 78501456 + IREB2 protein_coding The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5' or 3' UTRs. Binding to the 5' UTR represses translation, while binding to the 3' UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]. 3658 GO:0005829, GO:0005829, GO:0005739, GO:0005737, cytosol, cytosol, mitochondrion, cytoplasm, GO:0051539, GO:0046872, GO:0030371, GO:0030350, GO:0030350, GO:0030350, GO:0005515, GO:0003994, GO:0003723, GO:0003723, 4 iron, 4 sulfur cluster binding, metal ion binding, translation repressor activity, iron-responsive element binding, iron-responsive element binding, iron-responsive element binding, protein binding, aconitate hydratase activity, RNA binding, RNA binding, GO:0055072, GO:0050892, GO:0034101, GO:0030316, GO:0017148, GO:0009791, GO:0006879, GO:0006826, GO:0006782, GO:0006101, GO:0006099, iron ion homeostasis, intestinal absorption, erythrocyte homeostasis, osteoclast differentiation, negative regulation of translation, post-embryonic development, cellular iron ion homeostasis, iron ion transport, protoporphyrinogen IX biosynthetic process, citrate metabolic process, tricarboxylic acid cycle, 585 477 536 326 391 362 383 317 219 ENSG00000136383 chr15 84816680 84873482 + ALPK3 protein_coding 57538 GO:0005634, GO:0005634, nucleus, nucleus, GO:0106311, GO:0106310, GO:0005524, protein threonine kinase activity, protein serine kinase activity, ATP binding, GO:0055013, GO:0007507, GO:0006468, cardiac muscle cell development, heart development, protein phosphorylation, 43 54 46 29 43 45 47 48 21 ENSG00000136404 chr15 83107407 83144854 + TM6SF1 protein_coding 53346 GO:0016021, GO:0005765, GO:0005765, integral component of membrane, lysosomal membrane, lysosomal membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 459 444 726 212 494 494 285 377 420 ENSG00000136425 chr15 78104606 78131544 - CIB2 protein_coding The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 10518 GO:0072562, GO:0042383, GO:0032437, GO:0032420, GO:0005737, GO:0001917, GO:0001750, blood microparticle, sarcolemma, cuticular plate, stereocilium, cytoplasm, photoreceptor inner segment, photoreceptor outer segment, GO:0042803, GO:0005515, GO:0005509, GO:0000287, protein homodimerization activity, protein binding, calcium ion binding, magnesium ion binding, GO:0071318, GO:0055074, GO:0045494, GO:0007204, cellular response to ATP, calcium ion homeostasis, photoreceptor cell maintenance, positive regulation of cytosolic calcium ion concentration, 1 1 1 5 0 4 0 0 0 ENSG00000136436 chr17 48830988 48866522 + CALCOCO2 protein_coding This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 10241 GO:0048471, GO:0043231, GO:0031410, GO:0016605, GO:0016605, GO:0016020, GO:0005856, GO:0005829, GO:0005776, GO:0005776, GO:0005737, GO:0005634, GO:0000421, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, cytoplasmic vesicle, PML body, PML body, membrane, cytoskeleton, cytosol, autophagosome, autophagosome, cytoplasm, nucleus, autophagosome membrane, GO:0046872, GO:0042803, GO:0005515, metal ion binding, protein homodimerization activity, protein binding, GO:1901098, GO:1901098, GO:0098792, GO:0098792, GO:0034341, GO:0016032, positive regulation of autophagosome maturation, positive regulation of autophagosome maturation, xenophagy, xenophagy, response to interferon-gamma, viral process, 1932 2014 2501 1008 1701 1467 1199 1357 1186 ENSG00000136444 chr17 50478800 50485975 + RSAD1 protein_coding 55316 GO:0005739, GO:0005737, GO:0005575, mitochondrion, cytoplasm, cellular_component, GO:0051539, GO:0046872, GO:0020037, GO:0004109, 4 iron, 4 sulfur cluster binding, metal ion binding, heme binding, coproporphyrinogen oxidase activity, GO:0055114, GO:0008150, GO:0006779, oxidation-reduction process, biological_process, porphyrin-containing compound biosynthetic process, 28 25 53 116 51 98 85 28 79 ENSG00000136448 chr17 45051610 45109016 + NMT1 protein_coding Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]. 4836 GO:0019898, GO:0005886, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, extrinsic component of membrane, plasma membrane, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, GO:0019107, GO:0019107, GO:0005515, GO:0004379, GO:0004379, myristoyltransferase activity, myristoyltransferase activity, protein binding, glycylpeptide N-tetradecanoyltransferase activity, glycylpeptide N-tetradecanoyltransferase activity, GO:1900740, GO:0042180, GO:0022400, GO:0018008, GO:0018008, GO:0006499, GO:0001701, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, cellular ketone metabolic process, regulation of rhodopsin mediated signaling pathway, N-terminal peptidyl-glycine N-myristoylation, N-terminal peptidyl-glycine N-myristoylation, N-terminal protein myristoylation, in utero embryonic development, 266 260 280 146 229 218 174 170 190 ENSG00000136449 chr17 50508384 50531501 + MYCBPAP protein_coding 84073 GO:0045202, GO:0016020, GO:0005737, synapse, membrane, cytoplasm, GO:0005515, protein binding, GO:0030154, GO:0007283, GO:0007275, GO:0007268, cell differentiation, spermatogenesis, multicellular organism development, chemical synaptic transmission, 0 1 2 9 3 0 12 0 0 ENSG00000136450 chr17 58003360 58007346 - SRSF1 protein_coding This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]. 6426 GO:0071013, GO:0035145, GO:0016607, GO:0016607, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, catalytic step 2 spliceosome, exon-exon junction complex, nuclear speck, nuclear speck, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0044547, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003723, GO:0003723, DNA topoisomerase binding, protein binding, mRNA binding, RNA binding, RNA binding, RNA binding, RNA binding, GO:0045292, GO:0031124, GO:0006406, GO:0006405, GO:0006397, GO:0006376, GO:0000398, GO:0000398, GO:0000395, GO:0000381, GO:0000380, mRNA cis splicing, via spliceosome, mRNA 3'-end processing, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splice site selection, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA 5'-splice site recognition, regulation of alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 299 214 307 333 304 350 279 215 259 ENSG00000136451 chr17 57971547 57988259 - VEZF1 protein_coding Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]. 7716 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000977, GO:0000977, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045603, GO:0006968, GO:0006357, GO:0001885, GO:0001525, positive regulation of transcription by RNA polymerase II, positive regulation of endothelial cell differentiation, cellular defense response, regulation of transcription by RNA polymerase II, endothelial cell development, angiogenesis, 996 824 1574 386 392 426 418 385 332 ENSG00000136457 chr17 50464496 50468966 - CHAD protein_coding Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008]. 1101 GO:0031012, GO:0005615, extracellular matrix, extracellular space, GO:1900155, GO:0060348, negative regulation of bone trabecula formation, bone development, 2 8 12 8 4 7 12 3 0 ENSG00000136463 chr17 63600872 63608365 + TACO1 protein_coding This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]. 51204 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0097177, GO:0019843, GO:0005515, GO:0003729, mitochondrial ribosome binding, rRNA binding, protein binding, mRNA binding, GO:1904959, GO:0070129, GO:0061743, GO:0033617, regulation of cytochrome-c oxidase activity, regulation of mitochondrial translation, motor learning, mitochondrial cytochrome c oxidase assembly, 14 15 27 5 21 13 11 10 23 ENSG00000136478 chr17 64147227 64263301 - TEX2 protein_coding 55852 GO:0031965, GO:0016021, GO:0005789, GO:0005783, nuclear membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0008289, GO:0003674, lipid binding, molecular_function, GO:0007165, GO:0006869, GO:0006665, signal transduction, lipid transport, sphingolipid metabolic process, 35 38 45 36 31 56 43 29 49 ENSG00000136485 chr17 63550461 63594266 + DCAF7 protein_coding This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 10238 GO:0080008, GO:0032991, GO:0016604, GO:0016363, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, Cul4-RING E3 ubiquitin ligase complex, protein-containing complex, nuclear body, nuclear matrix, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0043687, GO:0016567, GO:0007275, post-translational protein modification, protein ubiquitination, multicellular organism development, 492 536 572 249 345 291 307 286 291 ENSG00000136487 chr17 63880215 63881935 - GH2 protein_coding The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008]. 2689 GO:0031904, GO:0005615, GO:0005576, endosome lumen, extracellular space, extracellular region, GO:0008083, GO:0005179, GO:0005131, growth factor activity, hormone activity, growth hormone receptor binding, GO:0060397, GO:0060396, GO:0048513, GO:0046427, GO:0045927, GO:0042531, GO:0031667, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway, animal organ development, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of growth, positive regulation of tyrosine phosphorylation of STAT protein, response to nutrient levels, 0 0 0 0 0 0 0 0 0 ENSG00000136488 chr17 63894909 63896661 - CSH1 protein_coding The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008]. 1442 GO:0031982, GO:0031904, GO:0005783, GO:0005615, GO:0005576, vesicle, endosome lumen, endoplasmic reticulum, extracellular space, extracellular region, GO:0046872, GO:0008083, GO:0005515, GO:0005179, GO:0005131, metal ion binding, growth factor activity, protein binding, hormone activity, growth hormone receptor binding, GO:0060397, GO:0060396, GO:0048513, GO:0046427, GO:0045927, GO:0042531, GO:0031667, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway, animal organ development, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of growth, positive regulation of tyrosine phosphorylation of STAT protein, response to nutrient levels, 0 0 0 0 0 0 0 0 0 ENSG00000136490 chr17 63695902 63701172 - LIMD2 protein_coding 80774 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, 4498 4441 5786 2763 4207 4016 3262 3668 3528 ENSG00000136492 chr17 61681266 61863521 - BRIP1 protein_coding The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]. 83990 GO:0031965, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, nuclear membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0051539, GO:0046872, GO:0005524, GO:0005515, GO:0003724, GO:0003678, GO:0003678, GO:0003677, 4 iron, 4 sulfur cluster binding, metal ion binding, ATP binding, protein binding, RNA helicase activity, DNA helicase activity, DNA helicase activity, DNA binding, GO:1990918, GO:1901796, GO:0072520, GO:0051026, GO:0032508, GO:0010705, GO:0007286, GO:0007284, GO:0006357, GO:0006302, GO:0006289, GO:0006260, GO:0000077, double-strand break repair involved in meiotic recombination, regulation of signal transduction by p53 class mediator, seminiferous tubule development, chiasma assembly, DNA duplex unwinding, meiotic DNA double-strand break processing involved in reciprocal meiotic recombination, spermatid development, spermatogonial cell division, regulation of transcription by RNA polymerase II, double-strand break repair, nucleotide-excision repair, DNA replication, DNA damage checkpoint, 6 4 4 2 9 4 5 2 9 ENSG00000136504 chr17 49788555 49835030 + KAT7 protein_coding The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]. 11143 GO:0090734, GO:0036409, GO:0005829, GO:0005730, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000775, GO:0000123, site of DNA damage, histone H3-K14 acetyltransferase complex, cytosol, nucleolus, chromosome, nucleoplasm, nucleoplasm, nucleus, chromatin, chromosome, centromeric region, histone acetyltransferase complex, GO:0042393, GO:0008270, GO:0005515, GO:0004402, GO:0004402, GO:0003712, GO:0003688, histone binding, zinc ion binding, protein binding, histone acetyltransferase activity, histone acetyltransferase activity, transcription coregulator activity, DNA replication origin binding, GO:2000819, GO:1902035, GO:1900182, GO:0090240, GO:0072739, GO:0072720, GO:0072716, GO:0072710, GO:0072708, GO:0045944, GO:0045944, GO:0045892, GO:0045740, GO:0045648, GO:0044154, GO:0043984, GO:0043983, GO:0043982, GO:0043981, GO:0043967, GO:0043966, GO:0032786, GO:0031098, GO:0030174, GO:0018393, GO:0006355, GO:0006281, GO:0006260, GO:0001779, regulation of nucleotide-excision repair, positive regulation of hematopoietic stem cell proliferation, positive regulation of protein localization to nucleus, positive regulation of histone H4 acetylation, response to anisomycin, response to dithiothreitol, response to actinomycin D, response to hydroxyurea, response to sorbitol, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of DNA replication, positive regulation of erythrocyte differentiation, histone H3-K14 acetylation, histone H4-K16 acetylation, histone H4-K12 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H4 acetylation, histone H3 acetylation, positive regulation of DNA-templated transcription, elongation, stress-activated protein kinase signaling cascade, regulation of DNA-dependent DNA replication initiation, internal peptidyl-lysine acetylation, regulation of transcription, DNA-templated, DNA repair, DNA replication, natural killer cell differentiation, 1187 1179 1273 811 1130 1170 876 833 974 ENSG00000136514 chr3 187368332 187372076 + RTP4 protein_coding 64108 GO:0016021, GO:0005737, GO:0005737, integral component of membrane, cytoplasm, cytoplasm, GO:0031849, GO:0005515, olfactory receptor binding, protein binding, GO:0051607, GO:0051205, GO:0006612, GO:0006612, GO:0001580, GO:0001580, defense response to virus, protein insertion into membrane, protein targeting to membrane, protein targeting to membrane, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 11 5 34 14 4 16 2 6 13 ENSG00000136518 chr3 179562880 179588408 + ACTL6A protein_coding This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]. 86 GO:0071564, GO:0071564, GO:0035267, GO:0035267, GO:0032991, GO:0031011, GO:0016514, GO:0016514, GO:0005886, GO:0005654, GO:0005654, GO:0005634, GO:0000785, npBAF complex, npBAF complex, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, protein-containing complex, Ino80 complex, SWI/SNF complex, SWI/SNF complex, plasma membrane, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0031492, GO:0005515, GO:0003713, GO:0003682, nucleosomal DNA binding, protein binding, transcription coactivator activity, chromatin binding, GO:1903508, GO:0043968, GO:0043967, GO:0043967, GO:0043044, GO:0043044, GO:0040008, GO:0021510, GO:0016579, GO:0007399, GO:0007165, GO:0006357, GO:0006357, GO:0006338, GO:0006338, GO:0006310, GO:0006281, GO:0003407, positive regulation of nucleic acid-templated transcription, histone H2A acetylation, histone H4 acetylation, histone H4 acetylation, ATP-dependent chromatin remodeling, ATP-dependent chromatin remodeling, regulation of growth, spinal cord development, protein deubiquitination, nervous system development, signal transduction, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, chromatin remodeling, DNA recombination, DNA repair, neural retina development, 25 34 42 47 34 69 32 25 63 ENSG00000136521 chr3 179604690 179627647 + NDUFB5 protein_coding The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 4711 GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, GO:0005654, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 85 50 107 72 96 112 80 80 69 ENSG00000136522 chr3 179588285 179604654 - MRPL47 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008]. 57129 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003674, protein binding, structural constituent of ribosome, molecular_function, GO:0070126, GO:0070125, GO:0032543, GO:0008150, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, biological_process, 104 63 89 44 70 89 44 53 73 ENSG00000136527 chr3 185915906 185938136 - TRA2B protein_coding This gene encodes a nuclear protein which functions as sequence-specific serine/arginine splicing factor which plays a role in mRNA processing, splicing patterns, and gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 6434 GO:0048471, GO:0032991, GO:0005681, GO:0005681, GO:0005654, GO:0005654, GO:0005637, GO:0005634, GO:0005634, perinuclear region of cytoplasm, protein-containing complex, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, nuclear inner membrane, nucleus, nucleus, GO:0042802, GO:0042802, GO:0036002, GO:0019904, GO:0005515, GO:0003729, GO:0003723, GO:0003723, identical protein binding, identical protein binding, pre-mRNA binding, protein domain specific binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:1990403, GO:0071333, GO:0048026, GO:0048026, GO:0043484, GO:0021796, GO:0000398, GO:0000398, GO:0000381, GO:0000381, GO:0000375, GO:0000302, embryonic brain development, cellular response to glucose stimulus, positive regulation of mRNA splicing, via spliceosome, positive regulation of mRNA splicing, via spliceosome, regulation of RNA splicing, cerebral cortex regionalization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, response to reactive oxygen species, 689 970 910 4093 5007 4930 3478 2544 2814 ENSG00000136531 chr2 165194993 165392310 + SCN2A protein_coding Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 6326 GO:0034706, GO:0033270, GO:0033268, GO:0031226, GO:0030424, GO:0030424, GO:0030315, GO:0016020, GO:0014704, GO:0005887, GO:0005886, GO:0001518, sodium channel complex, paranode region of axon, node of Ranvier, intrinsic component of plasma membrane, axon, axon, T-tubule, membrane, intercalated disc, integral component of plasma membrane, plasma membrane, voltage-gated sodium channel complex, GO:0005515, GO:0005248, GO:0005248, GO:0005248, GO:0005244, protein binding, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0086010, GO:0071456, GO:0051402, GO:0042552, GO:0035725, GO:0035725, GO:0034765, GO:0019228, GO:0008627, GO:0007613, GO:0007399, GO:0006814, membrane depolarization during action potential, cellular response to hypoxia, neuron apoptotic process, myelination, sodium ion transmembrane transport, sodium ion transmembrane transport, regulation of ion transmembrane transport, neuronal action potential, intrinsic apoptotic signaling pathway in response to osmotic stress, memory, nervous system development, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000136535 chr2 161416094 161425870 + TBR1 protein_coding This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]. 10716 GO:0005634, GO:0000785, nucleus, chromatin, GO:0042802, GO:0019901, GO:0005515, GO:0003700, GO:0000981, GO:0000978, GO:0000978, identical protein binding, protein kinase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902667, GO:0045892, GO:0030902, GO:0021987, GO:0021902, GO:0021764, GO:0010975, GO:0010092, GO:0007420, GO:0006357, GO:0001947, GO:0001708, GO:0001661, regulation of axon guidance, negative regulation of transcription, DNA-templated, hindbrain development, cerebral cortex development, commitment of neuronal cell to specific neuron type in forebrain, amygdala development, regulation of neuron projection development, specification of animal organ identity, brain development, regulation of transcription by RNA polymerase II, heart looping, cell fate specification, conditioned taste aversion, 0 0 0 0 0 0 0 0 0 ENSG00000136536 chr2 159712457 159771027 + MARCH7 protein_coding MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]. 64844 GO:0005886, GO:0005829, GO:0005634, GO:0005634, GO:0005634, plasma membrane, cytosol, nucleus, nucleus, nucleus, GO:0097371, GO:0043130, GO:0043130, GO:0031624, GO:0031624, GO:0016740, GO:0008270, GO:0005515, MDM2/MDM4 family protein binding, ubiquitin binding, ubiquitin binding, ubiquitin conjugating enzyme binding, ubiquitin conjugating enzyme binding, transferase activity, zinc ion binding, protein binding, GO:1905524, GO:1902916, GO:1902166, GO:1901799, GO:0051865, GO:0051865, GO:0050821, GO:0043518, GO:0042130, GO:0008284, GO:0006513, GO:0002643, negative regulation of protein autoubiquitination, positive regulation of protein polyubiquitination, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, negative regulation of proteasomal protein catabolic process, protein autoubiquitination, protein autoubiquitination, protein stabilization, negative regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of T cell proliferation, positive regulation of cell population proliferation, protein monoubiquitination, regulation of tolerance induction, 3530 3512 4185 1435 2841 2331 1932 2435 2198 ENSG00000136541 chr2 157318625 157327713 - ERMN protein_coding 57471 GO:0070062, GO:0043209, GO:0043025, GO:0033270, GO:0033270, GO:0033269, GO:0033269, GO:0030175, GO:0005938, GO:0005938, GO:0005856, GO:0005737, extracellular exosome, myelin sheath, neuronal cell body, paranode region of axon, paranode region of axon, internode region of axon, internode region of axon, filopodium, cell cortex, cell cortex, cytoskeleton, cytoplasm, GO:0051015, GO:0005515, actin filament binding, protein binding, GO:0031344, GO:0031344, GO:0008360, GO:0008360, GO:0007015, GO:0007015, GO:0001763, regulation of cell projection organization, regulation of cell projection organization, regulation of cell shape, regulation of cell shape, actin filament organization, actin filament organization, morphogenesis of a branching structure, 152 155 107 203 156 164 179 87 149 ENSG00000136542 chr2 157257598 157314211 + GALNT5 protein_coding The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]. 11227 GO:0016021, GO:0005794, GO:0005575, GO:0000139, integral component of membrane, Golgi apparatus, cellular_component, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, GO:0006024, O-glycan processing, glycosaminoglycan biosynthetic process, 0 0 0 1 0 0 0 0 0 ENSG00000136546 chr2 166403573 166494326 - SCN7A protein_coding This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]. 6332 GO:0097386, GO:0030424, GO:0001518, glial cell projection, axon, voltage-gated sodium channel complex, GO:0005248, GO:0005244, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0086010, GO:0055078, GO:0035725, GO:0034765, GO:0019228, GO:0009617, GO:0006936, GO:0006814, membrane depolarization during action potential, sodium ion homeostasis, sodium ion transmembrane transport, regulation of ion transmembrane transport, neuronal action potential, response to bacterium, muscle contraction, sodium ion transport, 0 0 0 0 2 0 1 0 0 ENSG00000136560 chr2 161136908 161236221 + TANK protein_coding The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 10010 GO:0032991, GO:0005829, GO:0005829, protein-containing complex, cytosol, cytosol, GO:0046872, GO:0035800, GO:0031625, GO:0005515, GO:0004843, metal ion binding, deubiquitinase activator activity, ubiquitin protein ligase binding, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:2000158, GO:1903003, GO:0071479, GO:0071356, GO:0071347, GO:0043124, GO:0035666, GO:0016032, GO:0007249, GO:0007165, GO:0006974, GO:0006508, positive regulation of ubiquitin-specific protease activity, positive regulation of protein deubiquitination, cellular response to ionizing radiation, cellular response to tumor necrosis factor, cellular response to interleukin-1, negative regulation of I-kappaB kinase/NF-kappaB signaling, TRIF-dependent toll-like receptor signaling pathway, viral process, I-kappaB kinase/NF-kappaB signaling, signal transduction, cellular response to DNA damage stimulus, proteolysis, 2102 1575 3396 1467 1435 2039 1638 1198 1645 ENSG00000136573 chr8 11486894 11564604 + BLK protein_coding This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]. 640 GO:0031234, GO:0005829, extrinsic component of cytoplasmic side of plasma membrane, cytosol, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004715, GO:0004713, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2000670, GO:0097028, GO:0090330, GO:0070667, GO:0050855, GO:0050855, GO:0050853, GO:0045087, GO:0043304, GO:0042127, GO:0038083, GO:0035556, GO:0032024, GO:0031175, GO:0030889, GO:0030154, GO:0018108, GO:0007169, GO:0006974, GO:0002902, GO:0002576, GO:0002513, GO:0002431, positive regulation of dendritic cell apoptotic process, dendritic cell differentiation, regulation of platelet aggregation, negative regulation of mast cell proliferation, regulation of B cell receptor signaling pathway, regulation of B cell receptor signaling pathway, B cell receptor signaling pathway, innate immune response, regulation of mast cell degranulation, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, intracellular signal transduction, positive regulation of insulin secretion, neuron projection development, negative regulation of B cell proliferation, cell differentiation, peptidyl-tyrosine phosphorylation, transmembrane receptor protein tyrosine kinase signaling pathway, cellular response to DNA damage stimulus, regulation of B cell apoptotic process, platelet degranulation, tolerance induction to self antigen, Fc receptor mediated stimulatory signaling pathway, 13 10 6 39 17 30 35 29 27 ENSG00000136574 chr8 11676959 11760002 + GATA4 protein_coding This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 2626 GO:0090575, GO:0016604, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, nuclear body, nucleoplasm, nucleus, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0070410, GO:0051525, GO:0043565, GO:0033613, GO:0019901, GO:0008270, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0003677, GO:0001228, GO:0001228, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, co-SMAD binding, NFAT protein binding, sequence-specific DNA binding, activating transcription factor binding, protein kinase binding, zinc ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001234, GO:1903202, GO:0086004, GO:0071333, GO:0070374, GO:0061049, GO:0061026, GO:0060575, GO:0060413, GO:0060290, GO:0051896, GO:0051891, GO:0048617, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045766, GO:0045165, GO:0042493, GO:0042060, GO:0035054, GO:0033189, GO:0030513, GO:0010667, GO:0010575, GO:0010507, GO:0009612, GO:0008584, GO:0008584, GO:0007596, GO:0007492, GO:0007267, GO:0006355, GO:0003290, GO:0003289, GO:0003281, GO:0003215, GO:0003208, GO:0003197, GO:0003197, GO:0003190, GO:0003180, GO:0001947, negative regulation of apoptotic signaling pathway, negative regulation of oxidative stress-induced cell death, regulation of cardiac muscle cell contraction, cellular response to glucose stimulus, positive regulation of ERK1 and ERK2 cascade, cell growth involved in cardiac muscle cell development, cardiac muscle tissue regeneration, intestinal epithelial cell differentiation, atrial septum morphogenesis, transdifferentiation, regulation of protein kinase B signaling, positive regulation of cardioblast differentiation, embryonic foregut morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of angiogenesis, cell fate commitment, response to drug, wound healing, embryonic heart tube anterior/posterior pattern specification, response to vitamin A, positive regulation of BMP signaling pathway, negative regulation of cardiac muscle cell apoptotic process, positive regulation of vascular endothelial growth factor production, negative regulation of autophagy, response to mechanical stimulus, male gonad development, male gonad development, blood coagulation, endoderm development, cell-cell signaling, regulation of transcription, DNA-templated, atrial septum secundum morphogenesis, atrial septum primum morphogenesis, ventricular septum development, cardiac right ventricle morphogenesis, cardiac ventricle morphogenesis, endocardial cushion development, endocardial cushion development, atrioventricular valve formation, aortic valve morphogenesis, heart looping, 0 0 0 0 0 0 0 0 0 ENSG00000136603 chr3 170357678 170396835 + SKIL protein_coding The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 6498 GO:0032991, GO:0005667, GO:0005654, GO:0005634, GO:0001669, protein-containing complex, transcription regulator complex, nucleoplasm, nucleus, acrosomal vesicle, GO:0046332, GO:0005515, GO:0003682, GO:0001227, GO:0000981, GO:0000978, GO:0000978, SMAD binding, protein binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902231, GO:1902043, GO:0070306, GO:0050772, GO:0045596, GO:0034097, GO:0030514, GO:0030512, GO:0007283, GO:0007179, GO:0007050, GO:0002260, GO:0001825, GO:0000122, GO:0000122, positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, lens fiber cell differentiation, positive regulation of axonogenesis, negative regulation of cell differentiation, response to cytokine, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, spermatogenesis, transforming growth factor beta receptor signaling pathway, cell cycle arrest, lymphocyte homeostasis, blastocyst formation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3599 2725 5387 4018 3355 6331 4507 2179 4511 ENSG00000136628 chr1 219968601 220046658 - EPRS protein_coding Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]. 2058 GO:1990904, GO:0097452, GO:0017101, GO:0017101, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, ribonucleoprotein complex, GAIT complex, aminoacyl-tRNA synthetase multienzyme complex, aminoacyl-tRNA synthetase multienzyme complex, membrane, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, GO:0051020, GO:0042803, GO:0042802, GO:0035613, GO:0008270, GO:0005524, GO:0005515, GO:0004827, GO:0004827, GO:0004827, GO:0004818, GTPase binding, protein homodimerization activity, identical protein binding, RNA stem-loop binding, zinc ion binding, ATP binding, protein binding, proline-tRNA ligase activity, proline-tRNA ligase activity, proline-tRNA ligase activity, glutamate-tRNA ligase activity, GO:0140212, GO:0071346, GO:0065003, GO:0032869, GO:0017148, GO:0017148, GO:0006433, GO:0006433, GO:0006424, GO:0006418, regulation of long-chain fatty acid import into cell, cellular response to interferon-gamma, protein-containing complex assembly, cellular response to insulin stimulus, negative regulation of translation, negative regulation of translation, prolyl-tRNA aminoacylation, prolyl-tRNA aminoacylation, glutamyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 70 68 107 201 114 204 177 110 196 ENSG00000136630 chr1 220879400 220885059 + HLX protein_coding 3142 GO:0000785, chromatin, GO:0043565, GO:0043565, GO:0005515, GO:0000981, sequence-specific DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0048557, GO:0048484, GO:0046622, GO:0045629, GO:0045627, GO:0030154, GO:0008284, GO:0007519, GO:0007275, GO:0006357, GO:0001889, embryonic digestive tract morphogenesis, enteric nervous system development, positive regulation of organ growth, negative regulation of T-helper 2 cell differentiation, positive regulation of T-helper 1 cell differentiation, cell differentiation, positive regulation of cell population proliferation, skeletal muscle tissue development, multicellular organism development, regulation of transcription by RNA polymerase II, liver development, 399 431 666 169 374 259 192 288 277 ENSG00000136631 chr1 150067279 150145329 + VPS45 protein_coding Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]. 11311 GO:0016021, GO:0010008, GO:0005794, GO:0005575, GO:0000139, GO:0000139, integral component of membrane, endosome membrane, Golgi apparatus, cellular_component, Golgi membrane, Golgi membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0016192, GO:0007596, GO:0006904, GO:0006886, GO:0006886, vesicle-mediated transport, blood coagulation, vesicle docking involved in exocytosis, intracellular protein transport, intracellular protein transport, 8 12 15 61 34 60 53 24 54 ENSG00000136634 chr1 206767602 206772494 - IL10 protein_coding The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, May 2020]. 3586 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0046983, GO:0008083, GO:0005515, GO:0005141, GO:0005125, protein dimerization activity, growth factor activity, protein binding, interleukin-10 receptor binding, cytokine activity, GO:2000352, GO:1904707, GO:1904706, GO:1904057, GO:1903672, GO:1903659, GO:1903208, GO:1903034, GO:1902895, GO:1900100, GO:0097421, GO:0072577, GO:0071650, GO:0071392, GO:0071222, GO:0060670, GO:0060302, GO:0051384, GO:0051091, GO:0051045, GO:0050807, GO:0050728, GO:0050728, GO:0046427, GO:0045930, GO:0045893, GO:0045893, GO:0045787, GO:0045348, GO:0045347, GO:0045347, GO:0045191, GO:0045019, GO:0043524, GO:0043066, GO:0043032, GO:0042832, GO:0042742, GO:0042493, GO:0042130, GO:0042100, GO:0042092, GO:0035729, GO:0035722, GO:0034465, GO:0034116, GO:0034115, GO:0032868, GO:0032720, GO:0032717, GO:0032715, GO:0032715, GO:0032701, GO:0032695, GO:0032692, GO:0032689, GO:0032687, GO:0030889, GO:0030886, GO:0030595, GO:0030183, GO:0030097, GO:0019221, GO:0014854, GO:0014823, GO:0010507, GO:0010468, GO:0008285, GO:0007568, GO:0007253, GO:0002904, GO:0002875, GO:0002719, GO:0002639, GO:0002237, GO:0001938, GO:0001819, GO:0001818, negative regulation of endothelial cell apoptotic process, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of sensory perception of pain, positive regulation of sprouting angiogenesis, regulation of complement-dependent cytotoxicity, negative regulation of hydrogen peroxide-induced neuron death, regulation of response to wounding, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of plasma cell differentiation, liver regeneration, endothelial cell apoptotic process, negative regulation of chemokine (C-C motif) ligand 5 production, cellular response to estradiol stimulus, cellular response to lipopolysaccharide, branching involved in labyrinthine layer morphogenesis, negative regulation of cytokine activity, response to glucocorticoid, positive regulation of DNA-binding transcription factor activity, negative regulation of membrane protein ectodomain proteolysis, regulation of synapse organization, negative regulation of inflammatory response, negative regulation of inflammatory response, positive regulation of receptor signaling pathway via JAK-STAT, negative regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of cell cycle, positive regulation of MHC class II biosynthetic process, negative regulation of MHC class II biosynthetic process, negative regulation of MHC class II biosynthetic process, regulation of isotype switching, negative regulation of nitric oxide biosynthetic process, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, positive regulation of macrophage activation, defense response to protozoan, defense response to bacterium, response to drug, negative regulation of T cell proliferation, B cell proliferation, type 2 immune response, cellular response to hepatocyte growth factor stimulus, interleukin-12-mediated signaling pathway, response to carbon monoxide, positive regulation of heterotypic cell-cell adhesion, negative regulation of heterotypic cell-cell adhesion, response to insulin, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, negative regulation of interleukin-6 production, negative regulation of interleukin-18 production, negative regulation of interleukin-12 production, negative regulation of interleukin-1 production, negative regulation of interferon-gamma production, negative regulation of interferon-alpha production, negative regulation of B cell proliferation, negative regulation of myeloid dendritic cell activation, leukocyte chemotaxis, B cell differentiation, hemopoiesis, cytokine-mediated signaling pathway, response to inactivity, response to activity, negative regulation of autophagy, regulation of gene expression, negative regulation of cell population proliferation, aging, cytoplasmic sequestering of NF-kappaB, positive regulation of B cell apoptotic process, negative regulation of chronic inflammatory response to antigenic stimulus, negative regulation of cytokine production involved in immune response, positive regulation of immunoglobulin production, response to molecule of bacterial origin, positive regulation of endothelial cell proliferation, positive regulation of cytokine production, negative regulation of cytokine production, 0 2 0 5 0 0 6 2 3 ENSG00000136636 chr1 215567392 215621807 + KCTD3 protein_coding This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 51133 GO:0005886, plasma membrane, GO:0051260, protein homooligomerization, 1 2 0 5 8 4 7 2 3 ENSG00000136643 chr1 213051233 213274773 + RPS6KC1 protein_coding Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017]. 26750 GO:0016020, GO:0005769, GO:0005769, membrane, early endosome, early endosome, GO:0106311, GO:0106310, GO:0035091, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, phosphatidylinositol binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0007165, GO:0006468, signal transduction, protein phosphorylation, 82 95 90 86 98 111 61 70 74 ENSG00000136682 chr2 113437691 113496189 + CBWD2 protein_coding 150472 GO:0005737, cytoplasm, GO:0005524, ATP binding, 141 157 153 105 207 240 128 161 86 ENSG00000136688 chr2 112973203 112985665 + IL36G protein_coding The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, May 2019]. 56300 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0005149, GO:0005125, interleukin-1 receptor binding, cytokine activity, GO:0071222, GO:0045087, GO:0019221, GO:0019221, GO:0010628, GO:0007267, GO:0006954, GO:0002437, cellular response to lipopolysaccharide, innate immune response, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of gene expression, cell-cell signaling, inflammatory response, inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000136689 chr2 113107214 113134016 + IL1RN protein_coding The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]. 3557 GO:0070062, GO:0005886, GO:0005737, GO:0005615, GO:0005615, extracellular exosome, plasma membrane, cytoplasm, extracellular space, extracellular space, GO:0045353, GO:0045352, GO:0005515, GO:0005152, GO:0005152, GO:0005152, GO:0005151, GO:0005150, GO:0005125, interleukin-1 type II receptor antagonist activity, interleukin-1 type I receptor antagonist activity, protein binding, interleukin-1 receptor antagonist activity, interleukin-1 receptor antagonist activity, interleukin-1 receptor antagonist activity, interleukin-1, type II receptor binding, interleukin-1, type I receptor binding, cytokine activity, GO:2000660, GO:2000660, GO:0070498, GO:0051384, GO:0034115, GO:0030073, GO:0019221, GO:0006955, GO:0006954, GO:0006629, GO:0002437, negative regulation of interleukin-1-mediated signaling pathway, negative regulation of interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, response to glucocorticoid, negative regulation of heterotypic cell-cell adhesion, insulin secretion, cytokine-mediated signaling pathway, immune response, inflammatory response, lipid metabolic process, inflammatory response to antigenic stimulus, 1353 1287 6067 242 828 805 607 876 1108 ENSG00000136694 chr2 113005461 113008044 + IL36A protein_coding The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition, decreased expression of this gene has been linked to a poor prognosis in both hepatocellular carcinoma and colorectal cancer patients. [provided by RefSeq, Nov 2015]. 27179 GO:0005737, GO:0005615, GO:0005576, GO:0005576, cytoplasm, extracellular space, extracellular region, extracellular region, GO:0005149, GO:0005125, interleukin-1 receptor binding, cytokine activity, GO:0071222, GO:0045087, GO:0032755, GO:0019221, GO:0019221, GO:0010628, GO:0006955, GO:0006954, GO:0002437, cellular response to lipopolysaccharide, innate immune response, positive regulation of interleukin-6 production, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of gene expression, immune response, inflammatory response, inflammatory response to antigenic stimulus, 0 0 2 0 0 0 0 0 1 ENSG00000136695 chr2 113058638 113065382 + IL36RN protein_coding The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. 26525 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0005515, GO:0005152, GO:0005149, GO:0005125, protein binding, interleukin-1 receptor antagonist activity, interleukin-1 receptor binding, cytokine activity, GO:0071222, GO:0045087, GO:0032715, GO:0032700, GO:0032689, GO:0019732, GO:0019221, GO:0006954, GO:0002437, GO:0001960, cellular response to lipopolysaccharide, innate immune response, negative regulation of interleukin-6 production, negative regulation of interleukin-17 production, negative regulation of interferon-gamma production, antifungal humoral response, cytokine-mediated signaling pathway, inflammatory response, inflammatory response to antigenic stimulus, negative regulation of cytokine-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000136696 chr2 113022091 113052867 - IL36B protein_coding The protein encoded by this gene is a member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 27177 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0005149, GO:0005125, interleukin-1 receptor binding, cytokine activity, GO:0071222, GO:0045582, GO:0045087, GO:0019221, GO:0019221, GO:0010628, GO:0006955, GO:0006954, GO:0002437, cellular response to lipopolysaccharide, positive regulation of T cell differentiation, innate immune response, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of gene expression, immune response, inflammatory response, inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000136697 chr2 113067970 113075850 + IL1F10 protein_coding The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. 84639 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0005515, GO:0005149, GO:0005125, protein binding, interleukin-1 receptor binding, cytokine activity, GO:0071345, GO:0071222, GO:0019221, GO:0019221, GO:0010628, GO:0006954, GO:0002437, cellular response to cytokine stimulus, cellular response to lipopolysaccharide, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of gene expression, inflammatory response, inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000136698 chr2 130592168 130599575 - CFC1 protein_coding This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 55997 GO:0031225, GO:0009986, GO:0005886, GO:0005576, GO:0005575, anchored component of membrane, cell surface, plasma membrane, extracellular region, cellular_component, GO:0070697, GO:0038100, GO:0038100, GO:0005102, GO:0003674, activin receptor binding, nodal binding, nodal binding, signaling receptor binding, molecular_function, GO:0048856, GO:0038092, GO:0038092, GO:0009952, GO:0007507, GO:0007369, GO:0007368, GO:0007368, GO:0001568, anatomical structure development, nodal signaling pathway, nodal signaling pathway, anterior/posterior pattern specification, heart development, gastrulation, determination of left/right symmetry, determination of left/right symmetry, blood vessel development, 0 0 0 0 0 0 0 0 0 ENSG00000136699 chr2 130151392 130182750 - SMPD4 protein_coding The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]. 55627 GO:0042383, GO:0016021, GO:0005802, GO:0005794, GO:0005789, GO:0005783, GO:0005640, GO:0005635, GO:0000139, sarcolemma, integral component of membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear outer membrane, nuclear envelope, Golgi membrane, GO:0050290, GO:0050290, GO:0046872, GO:0004767, sphingomyelin phosphodiesterase D activity, sphingomyelin phosphodiesterase D activity, metal ion binding, sphingomyelin phosphodiesterase activity, GO:0071356, GO:0046513, GO:0046513, GO:0046475, GO:0046475, GO:0007029, GO:0006687, GO:0006685, GO:0006685, cellular response to tumor necrosis factor, ceramide biosynthetic process, ceramide biosynthetic process, glycerophospholipid catabolic process, glycerophospholipid catabolic process, endoplasmic reticulum organization, glycosphingolipid metabolic process, sphingomyelin catabolic process, sphingomyelin catabolic process, 155 117 202 242 154 224 215 106 204 ENSG00000136709 chr2 127701022 127811187 - WDR33 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 55339 GO:0005847, GO:0005654, GO:0005654, GO:0005634, GO:0005581, GO:0001650, mRNA cleavage and polyadenylation specificity factor complex, nucleoplasm, nucleoplasm, nucleus, collagen trimer, fibrillar center, GO:0003723, RNA binding, GO:0031124, GO:0007283, GO:0006406, GO:0006378, GO:0006369, GO:0006301, GO:0000398, mRNA 3'-end processing, spermatogenesis, mRNA export from nucleus, mRNA polyadenylation, termination of RNA polymerase II transcription, postreplication repair, mRNA splicing, via spliceosome, 427 446 465 452 544 524 490 362 447 ENSG00000136710 chr2 130338241 130342349 - CCDC115 protein_coding The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]. 84317 GO:0042406, GO:0030137, GO:0016471, GO:0016020, GO:0005793, GO:0005783, GO:0005768, GO:0005764, extrinsic component of endoplasmic reticulum membrane, COPI-coated vesicle, vacuolar proton-transporting V-type ATPase complex, membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, endosome, lysosome, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:1905146, GO:0070072, GO:0036295, GO:0007042, GO:0006879, lysosomal protein catabolic process, vacuolar proton-transporting V-type ATPase complex assembly, cellular response to increased oxygen levels, lysosomal lumen acidification, cellular iron ion homeostasis, 105 105 113 82 67 102 75 106 104 ENSG00000136715 chr2 127941217 128028120 - SAP130 protein_coding SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]. 79595 GO:0070822, GO:0016607, Sin3-type complex, nuclear speck, GO:0000122, GO:0000122, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 593 640 844 313 442 372 319 355 348 ENSG00000136717 chr2 127048027 127107355 - BIN1 protein_coding This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]. 274 GO:0060987, GO:0043194, GO:0033268, GO:0031674, GO:0030424, GO:0030315, GO:0030018, GO:0016020, GO:0016020, GO:0015629, GO:0008021, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005768, GO:0005737, GO:0005635, GO:0005634, lipid tube, axon initial segment, node of Ranvier, I band, axon, T-tubule, Z disc, membrane, membrane, actin cytoskeleton, synaptic vesicle, plasma membrane, cytoskeleton, cytosol, cytosol, endosome, cytoplasm, nuclear envelope, nucleus, GO:0070063, GO:0051087, GO:0051015, GO:0048156, GO:0048156, GO:0048156, GO:0042802, GO:0030276, GO:0019828, GO:0005543, GO:0005515, GO:0002020, RNA polymerase binding, chaperone binding, actin filament binding, tau protein binding, tau protein binding, tau protein binding, identical protein binding, clathrin binding, aspartic-type endopeptidase inhibitor activity, phospholipid binding, protein binding, protease binding, GO:1904878, GO:1903946, GO:1902960, GO:1902430, GO:1901380, GO:0086091, GO:0071156, GO:0061024, GO:0060988, GO:0051647, GO:0048711, GO:0045664, GO:0043065, GO:0043065, GO:0033292, GO:0033292, GO:0030838, GO:0030100, GO:0016032, GO:0008333, GO:0007010, GO:0006997, GO:0006897, negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, negative regulation of ventricular cardiac muscle cell action potential, negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, negative regulation of amyloid-beta formation, negative regulation of potassium ion transmembrane transport, regulation of heart rate by cardiac conduction, regulation of cell cycle arrest, membrane organization, lipid tube assembly, nucleus localization, positive regulation of astrocyte differentiation, regulation of neuron differentiation, positive regulation of apoptotic process, positive regulation of apoptotic process, T-tubule organization, T-tubule organization, positive regulation of actin filament polymerization, regulation of endocytosis, viral process, endosome to lysosome transport, cytoskeleton organization, nucleus organization, endocytosis, 39 20 59 143 52 241 147 34 148 ENSG00000136718 chr2 130342225 130347810 + IMP4 protein_coding The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 92856 GO:0034457, GO:0034457, GO:0032040, GO:0030684, GO:0005730, GO:0005730, GO:0005654, GO:0001650, Mpp10 complex, Mpp10 complex, small-subunit processome, preribosome, nucleolus, nucleolus, nucleoplasm, fibrillar center, GO:0030515, GO:0005515, snoRNA binding, protein binding, GO:0006364, GO:0006364, GO:0006364, rRNA processing, rRNA processing, rRNA processing, 27 28 63 85 46 73 80 35 42 ENSG00000136720 chr2 128236716 128318577 - HS6ST1 protein_coding The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]. 9394 GO:0016607, GO:0005887, GO:0005654, GO:0000139, nuclear speck, integral component of plasma membrane, nucleoplasm, Golgi membrane, GO:0017095, GO:0008146, GO:0005515, heparan sulfate 6-O-sulfotransferase activity, sulfotransferase activity, protein binding, GO:0060716, GO:0048666, GO:0048286, GO:0015015, GO:0006024, GO:0001525, labyrinthine layer blood vessel development, neuron development, lung alveolus development, heparan sulfate proteoglycan biosynthetic process, enzymatic modification, glycosaminoglycan biosynthetic process, angiogenesis, 74 87 139 69 82 70 85 53 84 ENSG00000136731 chr2 128091200 128195677 + UGGT1 protein_coding UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]. 56886 GO:0070062, GO:0044322, GO:0032991, GO:0005793, GO:0005788, GO:0005783, GO:0005783, extracellular exosome, endoplasmic reticulum quality control compartment, protein-containing complex, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:0051082, GO:0051082, GO:0005515, GO:0003980, GO:0003980, unfolded protein binding, unfolded protein binding, protein binding, UDP-glucose:glycoprotein glucosyltransferase activity, UDP-glucose:glycoprotein glucosyltransferase activity, GO:1904380, GO:0097359, GO:0071712, GO:0051084, GO:0018279, endoplasmic reticulum mannose trimming, UDP-glucosylation, ER-associated misfolded protein catabolic process, 'de novo' posttranslational protein folding, protein N-linked glycosylation via asparagine, 1541 1630 1904 1004 1486 1518 1164 1148 1234 ENSG00000136732 chr2 126655933 126696670 + GYPC protein_coding Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 2995 GO:0030863, GO:0030863, GO:0016020, GO:0016020, GO:0005887, GO:0005886, GO:0005886, cortical cytoskeleton, cortical cytoskeleton, membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0050900, leukocyte migration, 42 31 110 145 56 174 111 79 105 ENSG00000136738 chr10 17644125 17715914 + STAM protein_coding This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]. 8027 GO:0033565, GO:0033565, GO:0033565, GO:0031901, GO:0005829, ESCRT-0 complex, ESCRT-0 complex, ESCRT-0 complex, early endosome membrane, cytosol, GO:0044389, GO:0005515, ubiquitin-like protein ligase binding, protein binding, GO:1903551, GO:1903543, GO:0061024, GO:0043328, GO:0042059, GO:0036258, GO:0016579, GO:0016236, GO:0016197, GO:0007165, regulation of extracellular exosome assembly, positive regulation of exosomal secretion, membrane organization, protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, negative regulation of epidermal growth factor receptor signaling pathway, multivesicular body assembly, protein deubiquitination, macroautophagy, endosomal transport, signal transduction, 147 183 202 120 188 179 125 173 213 ENSG00000136750 chr10 26216307 26304558 + GAD2 protein_coding This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]. 2572 GO:0061202, GO:0060077, GO:0048471, GO:0042734, GO:0031225, GO:0030672, GO:0030424, GO:0005886, GO:0005829, GO:0000139, clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, inhibitory synapse, perinuclear region of cytoplasm, presynaptic membrane, anchored component of membrane, synaptic vesicle membrane, axon, plasma membrane, cytosol, Golgi membrane, GO:0044877, GO:0030170, GO:0016595, GO:0005515, GO:0004351, protein-containing complex binding, pyridoxal phosphate binding, glutamate binding, protein binding, glutamate decarboxylase activity, GO:0042493, GO:0042136, GO:0007269, GO:0007268, GO:0006540, response to drug, neurotransmitter biosynthetic process, neurotransmitter secretion, chemical synaptic transmission, glutamate decarboxylation to succinate, 0 0 0 0 0 0 0 0 0 ENSG00000136754 chr10 26746593 26861087 - ABI1 protein_coding This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]. 10006 GO:0070062, GO:0032433, GO:0031209, GO:0030426, GO:0030054, GO:0030027, GO:0030027, GO:0016235, GO:0014069, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005783, GO:0005634, GO:0005622, extracellular exosome, filopodium tip, SCAR complex, growth cone, cell junction, lamellipodium, lamellipodium, aggresome, postsynaptic density, plasma membrane, cytoskeleton, cytosol, cytosol, endoplasmic reticulum, nucleus, intracellular anatomical structure, GO:0045296, GO:0030296, GO:0017124, GO:0017124, GO:0008092, GO:0005515, cadherin binding, protein tyrosine kinase activator activity, SH3 domain binding, SH3 domain binding, cytoskeletal protein binding, protein binding, GO:0072673, GO:0061098, GO:0048813, GO:0048010, GO:0038096, GO:0035855, GO:0018108, GO:0016032, GO:0008285, GO:0008154, GO:0007169, GO:0001756, lamellipodium morphogenesis, positive regulation of protein tyrosine kinase activity, dendrite morphogenesis, vascular endothelial growth factor receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, megakaryocyte development, peptidyl-tyrosine phosphorylation, viral process, negative regulation of cell population proliferation, actin polymerization or depolymerization, transmembrane receptor protein tyrosine kinase signaling pathway, somitogenesis, 1771 1471 1922 944 1369 1166 1043 1011 1027 ENSG00000136758 chr10 27110112 27155266 - YME1L1 protein_coding The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 10730 GO:0016604, GO:0016021, GO:0016020, GO:0005743, GO:0005743, GO:0005743, GO:0005739, nuclear body, integral component of membrane, membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0046872, GO:0005524, GO:0005515, GO:0004222, GO:0004176, GO:0004176, GO:0004176, metal ion binding, ATP binding, protein binding, metalloendopeptidase activity, ATP-dependent peptidase activity, ATP-dependent peptidase activity, ATP-dependent peptidase activity, GO:0043066, GO:0035694, GO:0034982, GO:0034214, GO:0008283, GO:0007005, GO:0007005, GO:0006851, GO:0006515, GO:0006515, GO:0006508, negative regulation of apoptotic process, mitochondrial protein catabolic process, mitochondrial protein processing, protein hexamerization, cell population proliferation, mitochondrion organization, mitochondrion organization, mitochondrial calcium ion transmembrane transport, protein quality control for misfolded or incompletely synthesized proteins, protein quality control for misfolded or incompletely synthesized proteins, proteolysis, 1470 1151 2024 1167 1091 1575 1064 825 1045 ENSG00000136770 chr10 21756537 22003769 - DNAJC1 protein_coding The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]. 64215 GO:0031965, GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005783, nuclear membrane, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0051087, GO:0005515, GO:0003677, GO:0001671, chaperone binding, protein binding, DNA binding, ATPase activator activity, GO:0050708, GO:0045861, GO:0032781, GO:0006457, GO:0006417, regulation of protein secretion, negative regulation of proteolysis, positive regulation of ATPase activity, protein folding, regulation of translation, 92 105 118 103 50 118 68 84 75 ENSG00000136783 chr9 104747688 104760122 + NIPSNAP3A protein_coding NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]. 25934 GO:0005829, GO:0005739, GO:0005634, cytosol, mitochondrion, nucleus, GO:0005515, protein binding, 17 32 34 42 17 50 28 26 18 ENSG00000136802 chr9 128882112 128918039 + LRRC8A protein_coding This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]. 56262 GO:0034702, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, ion channel complex, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005253, GO:0005225, GO:0005225, identical protein binding, protein binding, anion channel activity, volume-sensitive anion channel activity, volume-sensitive anion channel activity, GO:0098656, GO:0098656, GO:0055085, GO:0034214, GO:0015810, GO:0015734, GO:0015698, GO:0006970, GO:0006884, GO:0006820, GO:0002329, anion transmembrane transport, anion transmembrane transport, transmembrane transport, protein hexamerization, aspartate transmembrane transport, taurine transport, inorganic anion transport, response to osmotic stress, cell volume homeostasis, anion transport, pre-B cell differentiation, 342 319 395 332 342 437 395 298 354 ENSG00000136807 chr9 127785679 127790787 + CDK9 protein_coding The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]. 1025 GO:0070691, GO:0036464, GO:0016605, GO:0016592, GO:0016020, GO:0008024, GO:0008023, GO:0005654, GO:0005654, GO:0005634, P-TEFb complex, cytoplasmic ribonucleoprotein granule, PML body, mediator complex, membrane, cyclin/CDK positive transcription elongation factor complex, transcription elongation factor complex, nucleoplasm, nucleoplasm, nucleus, GO:0097322, GO:0019901, GO:0016301, GO:0008353, GO:0008353, GO:0005524, GO:0005515, GO:0004693, GO:0004693, GO:0004674, GO:0004674, GO:0004672, GO:0003682, GO:0003677, GO:0001223, GO:0000978, 7SK snRNA binding, protein kinase binding, kinase activity, RNA polymerase II CTD heptapeptide repeat kinase activity, RNA polymerase II CTD heptapeptide repeat kinase activity, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, chromatin binding, DNA binding, transcription coactivator binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001168, GO:1903839, GO:1900364, GO:0071345, GO:0071157, GO:0070816, GO:0051147, GO:0050434, GO:0045944, GO:0045944, GO:0045944, GO:0042795, GO:0042493, GO:0033129, GO:0031297, GO:0031056, GO:0010613, GO:0008283, GO:0007346, GO:0006468, GO:0006468, GO:0006368, GO:0006367, GO:0006366, GO:0006282, GO:0006281, positive regulation of histone H2B ubiquitination, positive regulation of mRNA 3'-UTR binding, negative regulation of mRNA polyadenylation, cellular response to cytokine stimulus, negative regulation of cell cycle arrest, phosphorylation of RNA polymerase II C-terminal domain, regulation of muscle cell differentiation, positive regulation of viral transcription, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, response to drug, positive regulation of histone phosphorylation, replication fork processing, regulation of histone modification, positive regulation of cardiac muscle hypertrophy, cell population proliferation, regulation of mitotic cell cycle, protein phosphorylation, protein phosphorylation, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of DNA repair, DNA repair, 609 627 617 305 472 439 360 421 374 ENSG00000136810 chr9 110243811 110256640 - TXN protein_coding The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 7295 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005576, extracellular exosome, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, extracellular region, GO:0047134, GO:0042803, GO:0015037, GO:0015035, GO:0005515, GO:0004791, GO:0003723, protein-disulfide reductase activity, protein homodimerization activity, peptide disulfide oxidoreductase activity, protein disulfide oxidoreductase activity, protein binding, thioredoxin-disulfide reductase activity, RNA binding, GO:2000170, GO:1903206, GO:0098869, GO:0071731, GO:0055114, GO:0055114, GO:0051897, GO:0046826, GO:0045454, GO:0045454, GO:0043388, GO:0033138, GO:0032148, GO:0009314, GO:0006662, GO:0000122, positive regulation of peptidyl-cysteine S-nitrosylation, negative regulation of hydrogen peroxide-induced cell death, cellular oxidant detoxification, response to nitric oxide, oxidation-reduction process, oxidation-reduction process, positive regulation of protein kinase B signaling, negative regulation of protein export from nucleus, cell redox homeostasis, cell redox homeostasis, positive regulation of DNA binding, positive regulation of peptidyl-serine phosphorylation, activation of protein kinase B activity, response to radiation, glycerol ether metabolic process, negative regulation of transcription by RNA polymerase II, 804 474 728 368 524 571 391 531 559 ENSG00000136811 chr9 128455186 128501292 + ODF2 protein_coding The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as 'Cenexins', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010]. 4957 GO:0120103, GO:0097539, GO:0036126, GO:0005874, GO:0005829, GO:0005814, GO:0005813, GO:0005634, GO:0001520, GO:0000922, centriolar subdistal appendage, ciliary transition fiber, sperm flagellum, microtubule, cytosol, centriole, centrosome, nucleus, outer dense fiber, spindle pole, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0097711, GO:0044782, GO:0010457, GO:0010389, GO:0008104, GO:0007286, GO:0007275, GO:0000086, ciliary basal body-plasma membrane docking, cilium organization, centriole-centriole cohesion, regulation of G2/M transition of mitotic cell cycle, protein localization, spermatid development, multicellular organism development, G2/M transition of mitotic cell cycle, 135 168 220 185 186 230 141 129 133 ENSG00000136813 chr9 111360692 111484745 - ECPAS protein_coding 23392 GO:0031410, GO:0030139, GO:0030134, GO:0016020, GO:0005813, GO:0005802, GO:0005793, GO:0005783, GO:0005771, GO:0005770, GO:0005769, GO:0005654, GO:0005634, GO:0000502, cytoplasmic vesicle, endocytic vesicle, COPII-coated ER to Golgi transport vesicle, membrane, centrosome, trans-Golgi network, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, multivesicular body, late endosome, early endosome, nucleoplasm, nucleus, proteasome complex, GO:0070628, GO:0060090, GO:0005515, proteasome binding, molecular adaptor activity, protein binding, GO:0043248, GO:0030433, proteasome assembly, ubiquitin-dependent ERAD pathway, 371 256 435 368 210 428 309 185 235 ENSG00000136816 chr9 129803153 129811281 + TOR1B protein_coding The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]. 27348 GO:0070062, GO:0031965, GO:0005788, GO:0005788, GO:0005783, GO:0005635, GO:0005635, extracellular exosome, nuclear membrane, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, nuclear envelope, nuclear envelope, GO:0042802, GO:0019894, GO:0016887, GO:0016887, GO:0005524, GO:0005515, identical protein binding, kinesin binding, ATPase activity, ATPase activity, ATP binding, protein binding, GO:0071763, GO:0051085, GO:0034504, GO:0007029, GO:0006986, nuclear membrane organization, chaperone cofactor-dependent protein refolding, protein localization to nucleus, endoplasmic reticulum organization, response to unfolded protein, 462 442 602 246 330 231 241 299 241 ENSG00000136819 chr9 129827290 129835863 - C9orf78 protein_coding 51759 GO:0005829, GO:0005681, GO:0005654, cytosol, spliceosomal complex, nucleoplasm, GO:0005515, protein binding, GO:0048024, regulation of mRNA splicing, via spliceosome, 449 351 517 356 300 428 307 288 267 ENSG00000136824 chr9 104094260 104141417 + SMC2 protein_coding 10592 GO:0070062, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000796, GO:0000793, GO:0000228, extracellular exosome, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, condensin complex, condensed chromosome, nuclear chromosome, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0051383, GO:0051301, GO:0045132, GO:0010032, GO:0007076, kinetochore organization, cell division, meiotic chromosome segregation, meiotic chromosome condensation, mitotic chromosome condensation, 13 5 13 23 9 27 26 11 36 ENSG00000136826 chr9 107484852 107490482 - KLF4 protein_coding This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. 9314 GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0000791, GO:0000785, GO:0000785, GO:0000785, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, euchromatin, chromatin, chromatin, chromatin, GO:1990841, GO:1990837, GO:0042826, GO:0035014, GO:0008270, GO:0008013, GO:0005515, GO:0003700, GO:0001228, GO:0001221, GO:0001085, GO:0001085, GO:0001010, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000976, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, histone deacetylase binding, phosphatidylinositol 3-kinase regulator activity, zinc ion binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, transcription cofactor binding, RNA polymerase II transcription factor binding, RNA polymerase II transcription factor binding, RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000342, GO:2000134, GO:1990830, GO:1904998, GO:1904798, GO:1903672, GO:1902895, GO:1901653, GO:0120222, GO:0090051, GO:0071499, GO:0071409, GO:0071363, GO:0071300, GO:0070373, GO:0070301, GO:0060761, GO:0060070, GO:0051973, GO:0051898, GO:0051247, GO:0050728, GO:0048730, GO:0048679, GO:0048662, GO:0046985, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045892, GO:0045595, GO:0045444, GO:0045429, GO:0043551, GO:0043154, GO:0035166, GO:0035019, GO:0034115, GO:0032717, GO:0032270, GO:0032088, GO:0031077, GO:0019827, GO:0016525, GO:0014740, GO:0014067, GO:0010629, GO:0010628, GO:0009913, GO:0008285, GO:0007500, GO:0006357, GO:0006351, GO:0000122, negative regulation of chemokine (C-X-C motif) ligand 2 production, negative regulation of G1/S transition of mitotic cell cycle, cellular response to leukemia inhibitory factor, negative regulation of leukocyte adhesion to arterial endothelial cell, positive regulation of core promoter binding, positive regulation of sprouting angiogenesis, positive regulation of pri-miRNA transcription by RNA polymerase II, cellular response to peptide, regulation of blastocyst development, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to laminar fluid shear stress, cellular response to cycloheximide, cellular response to growth factor stimulus, cellular response to retinoic acid, negative regulation of ERK1 and ERK2 cascade, cellular response to hydrogen peroxide, negative regulation of response to cytokine stimulus, canonical Wnt signaling pathway, positive regulation of telomerase activity, negative regulation of protein kinase B signaling, positive regulation of protein metabolic process, negative regulation of inflammatory response, epidermis morphogenesis, regulation of axon regeneration, negative regulation of smooth muscle cell proliferation, positive regulation of hemoglobin biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of cell differentiation, fat cell differentiation, positive regulation of nitric oxide biosynthetic process, regulation of phosphatidylinositol 3-kinase activity, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, post-embryonic hemopoiesis, somatic stem cell population maintenance, negative regulation of heterotypic cell-cell adhesion, negative regulation of interleukin-8 production, positive regulation of cellular protein metabolic process, negative regulation of NF-kappaB transcription factor activity, post-embryonic camera-type eye development, stem cell population maintenance, negative regulation of angiogenesis, negative regulation of muscle hyperplasia, negative regulation of phosphatidylinositol 3-kinase signaling, negative regulation of gene expression, positive regulation of gene expression, epidermal cell differentiation, negative regulation of cell population proliferation, mesodermal cell fate determination, regulation of transcription by RNA polymerase II, transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 50 54 80 350 407 477 243 199 201 ENSG00000136827 chr9 129812944 129824134 - TOR1A protein_coding The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]. 1861 GO:0070062, GO:0043231, GO:0042406, GO:0031965, GO:0030659, GO:0030426, GO:0030141, GO:0016020, GO:0008021, GO:0005856, GO:0005829, GO:0005788, GO:0005788, GO:0005783, GO:0005635, GO:0005635, extracellular exosome, intracellular membrane-bounded organelle, extrinsic component of endoplasmic reticulum membrane, nuclear membrane, cytoplasmic vesicle membrane, growth cone, secretory granule, membrane, synaptic vesicle, cytoskeleton, cytosol, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, nuclear envelope, nuclear envelope, GO:0051787, GO:0051082, GO:0042802, GO:0019894, GO:0019894, GO:0016887, GO:0016887, GO:0008092, GO:0005524, GO:0005515, misfolded protein binding, unfolded protein binding, identical protein binding, kinesin binding, kinesin binding, ATPase activity, ATPase activity, cytoskeletal protein binding, ATP binding, protein binding, GO:2000008, GO:1900244, GO:0072321, GO:0071763, GO:0071763, GO:0071712, GO:0061077, GO:0051584, GO:0051085, GO:0048489, GO:0045104, GO:0044319, GO:0034504, GO:0034504, GO:0034504, GO:0031175, GO:0007155, GO:0006998, GO:0006996, GO:0006979, GO:0000338, regulation of protein localization to cell surface, positive regulation of synaptic vesicle endocytosis, chaperone-mediated protein transport, nuclear membrane organization, nuclear membrane organization, ER-associated misfolded protein catabolic process, chaperone-mediated protein folding, regulation of dopamine uptake involved in synaptic transmission, chaperone cofactor-dependent protein refolding, synaptic vesicle transport, intermediate filament cytoskeleton organization, wound healing, spreading of cells, protein localization to nucleus, protein localization to nucleus, protein localization to nucleus, neuron projection development, cell adhesion, nuclear envelope organization, organelle organization, response to oxidative stress, protein deneddylation, 346 395 440 144 238 145 163 278 157 ENSG00000136828 chr9 126914774 127223166 + RALGPS1 protein_coding 9649 GO:0005886, GO:0005737, GO:0005575, plasma membrane, cytoplasm, cellular_component, GO:0005085, GO:0005085, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0035556, GO:0032485, GO:0007264, intracellular signal transduction, regulation of Ral protein signal transduction, small GTPase mediated signal transduction, 137 132 171 122 109 108 148 75 104 ENSG00000136830 chr9 127505339 127578989 - FAM129B protein_coding 64855 GO:0070062, GO:0005912, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, adherens junction, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0045296, GO:0005515, GO:0003713, cadherin binding, protein binding, transcription coactivator activity, GO:2000679, GO:2000279, GO:0048743, GO:0045893, GO:0045892, GO:0045746, GO:0044029, GO:0043066, GO:0040019, GO:0032274, GO:0032274, GO:0030948, GO:0030154, GO:0016525, GO:0008285, GO:0007411, positive regulation of transcription regulatory region DNA binding, negative regulation of DNA biosynthetic process, positive regulation of skeletal muscle fiber development, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of Notch signaling pathway, hypomethylation of CpG island, negative regulation of apoptotic process, positive regulation of embryonic development, gonadotropin secretion, gonadotropin secretion, negative regulation of vascular endothelial growth factor receptor signaling pathway, cell differentiation, negative regulation of angiogenesis, negative regulation of cell population proliferation, axon guidance, 3 13 24 13 14 26 7 7 24 ENSG00000136834 chr9 122476958 122477926 - OR1J1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 347168 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000136839 chr9 104617248 104618204 - OR13C9 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 286362 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000136840 chr9 127907886 127917038 - ST6GALNAC4 protein_coding The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 27090 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0047290, GO:0001665, (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity, alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity, GO:0016266, GO:0009311, GO:0006664, GO:0001574, O-glycan processing, oligosaccharide metabolic process, glycolipid metabolic process, ganglioside biosynthetic process, 6 11 11 10 9 10 12 11 3 ENSG00000136842 chr9 97501180 97601748 + TMOD1 protein_coding This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]. 7111 GO:0030863, GO:0030017, GO:0030016, GO:0030016, GO:0016020, GO:0008180, GO:0005884, GO:0005865, GO:0005865, GO:0005856, GO:0005829, cortical cytoskeleton, sarcomere, myofibril, myofibril, membrane, COP9 signalosome, actin filament, striated muscle thin filament, striated muscle thin filament, cytoskeleton, cytosol, GO:0051015, GO:0005523, GO:0003779, actin filament binding, tropomyosin binding, actin binding, GO:0070307, GO:0051694, GO:0030239, GO:0030049, GO:0008344, GO:0007015, GO:0006936, lens fiber cell development, pointed-end actin filament capping, myofibril assembly, muscle filament sliding, adult locomotory behavior, actin filament organization, muscle contraction, 29 32 57 49 23 35 37 12 35 ENSG00000136848 chr9 121567057 121785530 + DAB2IP protein_coding DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]. 153090 GO:1990597, GO:1990032, GO:0044301, GO:0044300, GO:0043025, GO:0032809, GO:0030425, GO:0030424, GO:0030139, GO:0005886, GO:0005829, GO:0005737, AIP1-IRE1 complex, parallel fiber, climbing fiber, cerebellar mossy fiber, neuronal cell body, neuronal cell body membrane, dendrite, axon, endocytic vesicle, plasma membrane, cytosol, cytoplasm, GO:0071889, GO:0070273, GO:0051721, GO:0045296, GO:0044877, GO:0043548, GO:0043184, GO:0042803, GO:0042802, GO:0036312, GO:0035662, GO:0035591, GO:0032266, GO:0031435, GO:0031434, GO:0019901, GO:0019901, GO:0019900, GO:0017124, GO:0005515, GO:0005123, GO:0005096, 14-3-3 protein binding, phosphatidylinositol-4-phosphate binding, protein phosphatase 2A binding, cadherin binding, protein-containing complex binding, phosphatidylinositol 3-kinase binding, vascular endothelial growth factor receptor 2 binding, protein homodimerization activity, identical protein binding, phosphatidylinositol 3-kinase regulatory subunit binding, Toll-like receptor 4 binding, signaling adaptor activity, phosphatidylinositol-3-phosphate binding, mitogen-activated protein kinase kinase kinase binding, mitogen-activated protein kinase kinase binding, protein kinase binding, protein kinase binding, kinase binding, SH3 domain binding, protein binding, death receptor binding, GTPase activator activity, GO:2001235, GO:2001224, GO:1903896, GO:1903363, GO:1901800, GO:1900747, GO:1900744, GO:1900006, GO:0090129, GO:0090090, GO:0090090, GO:0072577, GO:0071902, GO:0071902, GO:0071901, GO:0071901, GO:0071364, GO:0071356, GO:0071347, GO:0071222, GO:0071158, GO:0070373, GO:0070317, GO:0070059, GO:0050680, GO:0048812, GO:0048147, GO:0046580, GO:0046330, GO:0045944, GO:0045892, GO:0045732, GO:0045087, GO:0044257, GO:0043553, GO:0043547, GO:0043507, GO:0043410, GO:0043407, GO:0043407, GO:0043254, GO:0043124, GO:0043122, GO:0043087, GO:0043065, GO:0042059, GO:0040008, GO:0038026, GO:0036324, GO:0035924, GO:0035924, GO:0035148, GO:0034620, GO:0034260, GO:0034260, GO:0034144, GO:0032088, GO:0031334, GO:0030948, GO:0021819, GO:0021814, GO:0016525, GO:0014067, GO:0010976, GO:0010719, GO:0010719, GO:0010633, GO:0010633, GO:0010596, GO:0008625, GO:0008285, GO:0007257, GO:0007252, GO:0007049, GO:0006954, GO:0001933, GO:0001933, GO:0001525, GO:0000185, GO:0000165, GO:0000122, GO:0000122, positive regulation of apoptotic signaling pathway, positive regulation of neuron migration, positive regulation of IRE1-mediated unfolded protein response, negative regulation of cellular protein catabolic process, positive regulation of proteasomal protein catabolic process, negative regulation of vascular endothelial growth factor signaling pathway, regulation of p38MAPK cascade, positive regulation of dendrite development, positive regulation of synapse maturation, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, endothelial cell apoptotic process, positive regulation of protein serine/threonine kinase activity, positive regulation of protein serine/threonine kinase activity, negative regulation of protein serine/threonine kinase activity, negative regulation of protein serine/threonine kinase activity, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to lipopolysaccharide, positive regulation of cell cycle arrest, negative regulation of ERK1 and ERK2 cascade, negative regulation of G0 to G1 transition, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, negative regulation of epithelial cell proliferation, neuron projection morphogenesis, negative regulation of fibroblast proliferation, negative regulation of Ras protein signal transduction, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of protein catabolic process, innate immune response, cellular protein catabolic process, negative regulation of phosphatidylinositol 3-kinase activity, positive regulation of GTPase activity, positive regulation of JUN kinase activity, positive regulation of MAPK cascade, negative regulation of MAP kinase activity, negative regulation of MAP kinase activity, regulation of protein-containing complex assembly, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, regulation of GTPase activity, positive regulation of apoptotic process, negative regulation of epidermal growth factor receptor signaling pathway, regulation of growth, reelin-mediated signaling pathway, vascular endothelial growth factor receptor-2 signaling pathway, cellular response to vascular endothelial growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, tube formation, cellular response to unfolded protein, negative regulation of GTPase activity, negative regulation of GTPase activity, negative regulation of toll-like receptor 4 signaling pathway, negative regulation of NF-kappaB transcription factor activity, positive regulation of protein-containing complex assembly, negative regulation of vascular endothelial growth factor receptor signaling pathway, layer formation in cerebral cortex, cell motility involved in cerebral cortex radial glia guided migration, negative regulation of angiogenesis, negative regulation of phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, negative regulation of epithelial to mesenchymal transition, negative regulation of epithelial to mesenchymal transition, negative regulation of epithelial cell migration, negative regulation of epithelial cell migration, negative regulation of endothelial cell migration, extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of cell population proliferation, activation of JUN kinase activity, I-kappaB phosphorylation, cell cycle, inflammatory response, negative regulation of protein phosphorylation, negative regulation of protein phosphorylation, angiogenesis, activation of MAPKKK activity, MAPK cascade, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 0 1 8 1 0 1 1 5 ENSG00000136854 chr9 127579370 127696027 + STXBP1 protein_coding This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. 6812 GO:0098978, GO:0098794, GO:0070062, GO:0048787, GO:0048471, GO:0045335, GO:0032991, GO:0031091, GO:0030424, GO:0030141, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, glutamatergic synapse, postsynapse, extracellular exosome, presynaptic active zone membrane, perinuclear region of cytoplasm, phagocytic vesicle, protein-containing complex, platelet alpha granule, axon, secretory granule, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, GO:0047485, GO:0043274, GO:0042802, GO:0019905, GO:0019905, GO:0019904, GO:0019901, GO:0017075, GO:0017075, GO:0017075, GO:0005515, GO:0003723, GO:0000149, protein N-terminus binding, phospholipase binding, identical protein binding, syntaxin binding, syntaxin binding, protein domain specific binding, protein kinase binding, syntaxin-1 binding, syntaxin-1 binding, syntaxin-1 binding, protein binding, RNA binding, SNARE binding, GO:2000367, GO:1903296, GO:0106022, GO:0099525, GO:0072659, GO:0071346, GO:0070527, GO:0060292, GO:0050821, GO:0045956, GO:0043524, GO:0043306, GO:0035542, GO:0035493, GO:0032355, GO:0032229, GO:0031630, GO:0031333, GO:0016192, GO:0016188, GO:0016082, GO:0014047, GO:0010807, GO:0007412, GO:0007274, GO:0007269, GO:0007269, GO:0006904, GO:0006904, GO:0006886, GO:0003006, GO:0002576, regulation of acrosomal vesicle exocytosis, positive regulation of glutamate secretion, neurotransmission, positive regulation of vesicle docking, presynaptic dense core vesicle exocytosis, protein localization to plasma membrane, cellular response to interferon-gamma, platelet aggregation, long-term synaptic depression, protein stabilization, positive regulation of calcium ion-dependent exocytosis, negative regulation of neuron apoptotic process, positive regulation of mast cell degranulation, regulation of SNARE complex assembly, SNARE complex assembly, response to estradiol, negative regulation of synaptic transmission, GABAergic, regulation of synaptic vesicle fusion to presynaptic active zone membrane, negative regulation of protein-containing complex assembly, vesicle-mediated transport, synaptic vesicle maturation, synaptic vesicle priming, glutamate secretion, regulation of synaptic vesicle priming, axon target recognition, neuromuscular synaptic transmission, neurotransmitter secretion, neurotransmitter secretion, vesicle docking involved in exocytosis, vesicle docking involved in exocytosis, intracellular protein transport, developmental process involved in reproduction, platelet degranulation, 0 6 4 17 2 9 9 2 4 ENSG00000136856 chr9 127397138 127408424 + SLC2A8 protein_coding This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]. 29988 GO:0030665, GO:0008021, GO:0005887, GO:0005886, GO:0005765, clathrin-coated vesicle membrane, synaptic vesicle, integral component of plasma membrane, plasma membrane, lysosomal membrane, GO:0033300, GO:0005536, GO:0005355, GO:0005353, dehydroascorbic acid transmembrane transporter activity, glucose binding, glucose transmembrane transporter activity, fructose transmembrane transporter activity, GO:1904659, GO:0070837, GO:0061024, GO:0015755, GO:0008645, GO:0008286, GO:0007141, GO:0005975, GO:0001666, glucose transmembrane transport, dehydroascorbic acid transport, membrane organization, fructose transmembrane transport, hexose transmembrane transport, insulin receptor signaling pathway, male meiosis I, carbohydrate metabolic process, response to hypoxia, 2 8 8 10 1 7 2 2 11 ENSG00000136859 chr9 127087332 127122883 - ANGPTL2 protein_coding Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]. 23452 GO:0070062, GO:0062023, GO:0062023, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular space, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0007275, GO:0001525, multicellular organism development, angiogenesis, 0 0 2 0 1 0 0 0 0 ENSG00000136861 chr9 120388869 120580170 - CDK5RAP2 protein_coding This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 55755 GO:0097431, GO:0070062, GO:0048471, GO:0048471, GO:0035371, GO:0035371, GO:0030054, GO:0008274, GO:0008274, GO:0005874, GO:0005856, GO:0005829, GO:0005813, GO:0005794, GO:0005737, GO:0000922, GO:0000242, GO:0000242, mitotic spindle pole, extracellular exosome, perinuclear region of cytoplasm, perinuclear region of cytoplasm, microtubule plus-end, microtubule plus-end, cell junction, gamma-tubulin ring complex, gamma-tubulin ring complex, microtubule, cytoskeleton, cytosol, centrosome, Golgi apparatus, cytoplasm, spindle pole, pericentriolar material, pericentriolar material, GO:0043015, GO:0043015, GO:0019901, GO:0019901, GO:0015631, GO:0008017, GO:0008017, GO:0005516, GO:0005516, GO:0005515, GO:0000976, GO:0000976, gamma-tubulin binding, gamma-tubulin binding, protein kinase binding, protein kinase binding, tubulin binding, microtubule binding, microtubule binding, calmodulin binding, calmodulin binding, protein binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0097711, GO:0090266, GO:0090266, GO:0046600, GO:0046600, GO:0045893, GO:0045893, GO:0045665, GO:0045664, GO:0031116, GO:0031116, GO:0031023, GO:0022008, GO:0010389, GO:0007420, GO:0007420, GO:0007099, GO:0007099, GO:0007098, GO:0007059, GO:0007059, GO:0001578, GO:0001578, GO:0000226, GO:0000132, GO:0000132, GO:0000086, ciliary basal body-plasma membrane docking, regulation of mitotic cell cycle spindle assembly checkpoint, regulation of mitotic cell cycle spindle assembly checkpoint, negative regulation of centriole replication, negative regulation of centriole replication, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of neuron differentiation, regulation of neuron differentiation, positive regulation of microtubule polymerization, positive regulation of microtubule polymerization, microtubule organizing center organization, neurogenesis, regulation of G2/M transition of mitotic cell cycle, brain development, brain development, centriole replication, centriole replication, centrosome cycle, chromosome segregation, chromosome segregation, microtubule bundle formation, microtubule bundle formation, microtubule cytoskeleton organization, establishment of mitotic spindle orientation, establishment of mitotic spindle orientation, G2/M transition of mitotic cell cycle, 240 299 371 205 195 345 272 183 218 ENSG00000136866 chr9 113038380 113056759 - ZFP37 protein_coding This gene encodes a transcription factor that belongs to a large family of zinc finger proteins. A similar protein in mouse is thought to play a role in regulating the structures of the nucleolus and centromere in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 7539 GO:0000785, chromatin, GO:0008270, GO:0003700, GO:0001227, GO:0000981, GO:0000977, zinc ion binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, GO:0000122, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1 2 6 0 1 3 3 2 1 ENSG00000136867 chr9 113150942 113164137 + SLC31A2 protein_coding 1318 GO:0055037, GO:0005887, GO:0005886, GO:0005770, recycling endosome, integral component of plasma membrane, plasma membrane, late endosome, GO:0005515, GO:0005375, protein binding, copper ion transmembrane transporter activity, GO:1902311, GO:0035434, GO:0006878, GO:0006825, regulation of copper ion transmembrane transport, copper ion transmembrane transport, cellular copper ion homeostasis, copper ion transport, 950 887 1207 504 884 799 741 793 827 ENSG00000136868 chr9 113221562 113264492 + SLC31A1 protein_coding The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]. 1317 GO:0055037, GO:0043025, GO:0005887, GO:0005886, GO:0005886, GO:0005770, recycling endosome, neuronal cell body, integral component of plasma membrane, plasma membrane, plasma membrane, late endosome, GO:0042802, GO:0005375, GO:0005375, identical protein binding, copper ion transmembrane transporter activity, copper ion transmembrane transporter activity, GO:0098705, GO:0072719, GO:0006878, GO:0006825, copper ion import across plasma membrane, cellular response to cisplatin, cellular copper ion homeostasis, copper ion transport, 521 414 614 109 243 202 172 250 181 ENSG00000136869 chr9 117704175 117724730 + TLR4 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]. 7099 GO:0048471, GO:0046696, GO:0043235, GO:0031226, GO:0010008, GO:0009986, GO:0009897, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005769, GO:0005737, GO:0005737, GO:0001891, GO:0001726, perinuclear region of cytoplasm, lipopolysaccharide receptor complex, receptor complex, intrinsic component of plasma membrane, endosome membrane, cell surface, external side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, early endosome, cytoplasm, cytoplasm, phagocytic cup, ruffle, GO:0061809, GO:0050135, GO:0046982, GO:0042802, GO:0038023, GO:0005515, GO:0005102, GO:0004888, GO:0001875, GO:0001875, GO:0001540, GO:0001530, GO:0001530, GO:0001530, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, protein heterodimerization activity, identical protein binding, signaling receptor activity, protein binding, signaling receptor binding, transmembrane signaling receptor activity, lipopolysaccharide immune receptor activity, lipopolysaccharide immune receptor activity, amyloid-beta binding, lipopolysaccharide binding, lipopolysaccharide binding, lipopolysaccharide binding, GO:2000343, GO:1904646, GO:1904466, GO:1903974, GO:1903428, GO:1903223, GO:1901224, GO:1900227, GO:1900017, GO:1900017, GO:0140052, GO:0120163, GO:0097190, GO:0071346, GO:0071260, GO:0071223, GO:0071222, GO:0071222, GO:0071222, GO:0070434, GO:0070430, GO:0070374, GO:0070373, GO:0070266, GO:0060907, GO:0060729, GO:0051770, GO:0051092, GO:0051092, GO:0050829, GO:0050829, GO:0050729, GO:0050729, GO:0046330, GO:0045944, GO:0045671, GO:0045429, GO:0045348, GO:0045087, GO:0043123, GO:0043032, GO:0042742, GO:0042742, GO:0042116, GO:0042088, GO:0035666, GO:0035666, GO:0034142, GO:0034128, GO:0032760, GO:0032760, GO:0032760, GO:0032757, GO:0032755, GO:0032755, GO:0032735, GO:0032735, GO:0032733, GO:0032732, GO:0032731, GO:0032729, GO:0032728, GO:0032727, GO:0032722, GO:0032720, GO:0032715, GO:0032707, GO:0032700, GO:0032689, GO:0032611, GO:0032609, GO:0032497, GO:0032496, GO:0032496, GO:0031663, GO:0031663, GO:0030890, GO:0016046, GO:0014002, GO:0010838, GO:0010628, GO:0010628, GO:0010572, GO:0007252, GO:0007249, GO:0006955, GO:0006954, GO:0006909, GO:0002756, GO:0002755, GO:0002755, GO:0002730, GO:0002537, GO:0002322, GO:0002224, GO:0002224, GO:0002218, GO:0000187, positive regulation of chemokine (C-X-C motif) ligand 2 production, cellular response to amyloid-beta, positive regulation of matrix metallopeptidase secretion, positive regulation of cellular response to macrophage colony-stimulating factor stimulus, positive regulation of reactive oxygen species biosynthetic process, positive regulation of oxidative stress-induced neuron death, positive regulation of NIK/NF-kappaB signaling, positive regulation of NLRP3 inflammasome complex assembly, positive regulation of cytokine production involved in inflammatory response, positive regulation of cytokine production involved in inflammatory response, cellular response to oxidised low-density lipoprotein particle stimulus, negative regulation of cold-induced thermogenesis, apoptotic signaling pathway, cellular response to interferon-gamma, cellular response to mechanical stimulus, cellular response to lipoteichoic acid, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, necroptotic process, positive regulation of macrophage cytokine production, intestinal epithelial structure maintenance, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, positive regulation of inflammatory response, positive regulation of inflammatory response, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, negative regulation of osteoclast differentiation, positive regulation of nitric oxide biosynthetic process, positive regulation of MHC class II biosynthetic process, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of macrophage activation, defense response to bacterium, defense response to bacterium, macrophage activation, T-helper 1 type immune response, TRIF-dependent toll-like receptor signaling pathway, TRIF-dependent toll-like receptor signaling pathway, toll-like receptor 4 signaling pathway, negative regulation of MyD88-independent toll-like receptor signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of chemokine production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-23 production, negative regulation of interleukin-17 production, negative regulation of interferon-gamma production, interleukin-1 beta production, interferon-gamma production, detection of lipopolysaccharide, response to lipopolysaccharide, response to lipopolysaccharide, lipopolysaccharide-mediated signaling pathway, lipopolysaccharide-mediated signaling pathway, positive regulation of B cell proliferation, detection of fungus, astrocyte development, positive regulation of keratinocyte proliferation, positive regulation of gene expression, positive regulation of gene expression, positive regulation of platelet activation, I-kappaB phosphorylation, I-kappaB kinase/NF-kappaB signaling, immune response, inflammatory response, phagocytosis, MyD88-independent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, regulation of dendritic cell cytokine production, nitric oxide production involved in inflammatory response, B cell proliferation involved in immune response, toll-like receptor signaling pathway, toll-like receptor signaling pathway, activation of innate immune response, activation of MAPK activity, 9518 7907 17174 1273 2969 2921 1956 2448 2824 ENSG00000136870 chr9 101398873 101410660 + ZNF189 protein_coding Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]. 7743 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 251 213 290 240 327 256 241 231 198 ENSG00000136872 chr9 101420578 101449664 - ALDOB protein_coding Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]. 229 GO:0070062, GO:0034451, GO:0005829, GO:0005829, GO:0005815, extracellular exosome, centriolar satellite, cytosol, cytosol, microtubule organizing center, GO:0070061, GO:0061609, GO:0061609, GO:0051117, GO:0042802, GO:0008092, GO:0005515, GO:0004332, GO:0004332, fructose binding, fructose-1-phosphate aldolase activity, fructose-1-phosphate aldolase activity, ATPase binding, identical protein binding, cytoskeletal protein binding, protein binding, fructose-bisphosphate aldolase activity, fructose-bisphosphate aldolase activity, GO:0070072, GO:0061624, GO:0061621, GO:0032781, GO:0030388, GO:0030388, GO:0006116, GO:0006096, GO:0006096, GO:0006094, GO:0006000, vacuolar proton-transporting V-type ATPase complex assembly, fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate, canonical glycolysis, positive regulation of ATPase activity, fructose 1,6-bisphosphate metabolic process, fructose 1,6-bisphosphate metabolic process, NADH oxidation, glycolytic process, glycolytic process, gluconeogenesis, fructose metabolic process, 2 5 0 2 11 0 0 2 7 ENSG00000136874 chr9 99906633 99970341 + STX17 protein_coding 55014 GO:0044233, GO:0033116, GO:0031201, GO:0031201, GO:0030897, GO:0030868, GO:0030134, GO:0016021, GO:0012507, GO:0012505, GO:0005886, GO:0005829, GO:0005793, GO:0005791, GO:0005789, GO:0005776, GO:0005765, GO:0005739, GO:0005739, GO:0000421, GO:0000421, mitochondria-associated endoplasmic reticulum membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, SNARE complex, SNARE complex, HOPS complex, smooth endoplasmic reticulum membrane, COPII-coated ER to Golgi transport vesicle, integral component of membrane, ER to Golgi transport vesicle membrane, endomembrane system, plasma membrane, cytosol, endoplasmic reticulum-Golgi intermediate compartment, rough endoplasmic reticulum, endoplasmic reticulum membrane, autophagosome, lysosomal membrane, mitochondrion, mitochondrion, autophagosome membrane, autophagosome membrane, GO:0019903, GO:0005515, GO:0005484, GO:0005484, GO:0000149, GO:0000149, protein phosphatase binding, protein binding, SNAP receptor activity, SNAP receptor activity, SNARE binding, SNARE binding, GO:0097352, GO:0097352, GO:0097111, GO:0048278, GO:0034497, GO:0016240, GO:0007030, GO:0006906, GO:0006888, GO:0006887, GO:0006886, autophagosome maturation, autophagosome maturation, endoplasmic reticulum-Golgi intermediate compartment organization, vesicle docking, protein localization to phagophore assembly site, autophagosome membrane docking, Golgi organization, vesicle fusion, endoplasmic reticulum to Golgi vesicle-mediated transport, exocytosis, intracellular protein transport, 115 91 143 112 97 184 134 95 111 ENSG00000136875 chr9 113275343 113292905 + PRPF4 protein_coding The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]. 9128 GO:0097525, GO:0071005, GO:0071001, GO:0046540, GO:0046540, GO:0016607, GO:0015030, GO:0005681, GO:0005681, GO:0005654, GO:0005634, spliceosomal snRNP complex, U2-type precatalytic spliceosome, U4/U6 snRNP, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, nuclear speck, Cajal body, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleus, GO:0030621, GO:0017070, GO:0005515, U4 snRNA binding, U6 snRNA binding, protein binding, GO:0008380, GO:0006396, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000375, RNA splicing, RNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 514 431 533 341 345 417 302 273 301 ENSG00000136877 chr9 127794597 127814327 + FPGS protein_coding This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]. 2356 GO:0005829, GO:0005829, GO:0005759, GO:0005743, GO:0005739, GO:0005737, cytosol, cytosol, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, cytoplasm, GO:0046872, GO:0005524, GO:0004326, GO:0004326, GO:0004326, metal ion binding, ATP binding, tetrahydrofolylpolyglutamate synthase activity, tetrahydrofolylpolyglutamate synthase activity, tetrahydrofolylpolyglutamate synthase activity, GO:0046901, GO:0046901, GO:0046901, GO:0046655, GO:0031100, GO:0009396, GO:0007420, GO:0006760, GO:0006730, GO:0006536, GO:0006139, GO:0001889, tetrahydrofolylpolyglutamate biosynthetic process, tetrahydrofolylpolyglutamate biosynthetic process, tetrahydrofolylpolyglutamate biosynthetic process, folic acid metabolic process, animal organ regeneration, folic acid-containing compound biosynthetic process, brain development, folic acid-containing compound metabolic process, one-carbon metabolic process, glutamate metabolic process, nucleobase-containing compound metabolic process, liver development, 35 38 34 86 64 153 127 38 75 ENSG00000136878 chr9 129834698 129881838 + USP20 protein_coding This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]. 10868 GO:0048471, GO:0005829, GO:0005813, GO:0005737, perinuclear region of cytoplasm, cytosol, centrosome, cytoplasm, GO:0008270, GO:0005515, GO:0004843, GO:0004197, GO:0001664, zinc ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, G protein-coupled receptor binding, GO:0071108, GO:0070536, GO:0016579, GO:0016579, GO:0008277, GO:0006897, GO:0006511, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein deubiquitination, protein deubiquitination, regulation of G protein-coupled receptor signaling pathway, endocytosis, ubiquitin-dependent protein catabolic process, 471 441 589 467 475 547 505 375 361 ENSG00000136881 chr9 101360417 101383519 - BAAT protein_coding The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 570 GO:0005829, GO:0005829, GO:0005782, GO:0005777, GO:0005777, cytosol, cytosol, peroxisomal matrix, peroxisome, peroxisome, GO:0102991, GO:0052817, GO:0052816, GO:0052815, GO:0052689, GO:0047963, GO:0047617, GO:0033882, GO:0016746, GO:0016410, GO:0016290, GO:0005515, myristoyl-CoA hydrolase activity, very long chain acyl-CoA hydrolase activity, long-chain acyl-CoA hydrolase activity, medium-chain acyl-CoA hydrolase activity, carboxylic ester hydrolase activity, glycine N-choloyltransferase activity, acyl-CoA hydrolase activity, choloyl-CoA hydrolase activity, transferase activity, transferring acyl groups, N-acyltransferase activity, palmitoyl-CoA hydrolase activity, protein binding, GO:0031100, GO:0019530, GO:0008206, GO:0006699, GO:0006699, GO:0006637, GO:0006637, GO:0006631, GO:0006625, GO:0006544, GO:0002152, GO:0001889, animal organ regeneration, taurine metabolic process, bile acid metabolic process, bile acid biosynthetic process, bile acid biosynthetic process, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, protein targeting to peroxisome, glycine metabolic process, bile acid conjugation, liver development, 0 0 0 0 0 0 0 0 0 ENSG00000136883 chr9 114086126 114099291 - KIF12 protein_coding This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A similar protein in mouse functions in the beta cell antioxidant signaling cascade, acting as a scaffold for the transcription factor specificity protein 1 (Sp1). Mice that lack this gene exhibit beta cell oxidative stress resulting in hypoinsulinemic glucose intolerance. [provided by RefSeq, Jul 2016]. 113220 GO:0070062, GO:0070062, GO:0005874, GO:0005871, GO:0005737, extracellular exosome, extracellular exosome, microtubule, kinesin complex, cytoplasm, GO:0016887, GO:0008017, GO:0005524, GO:0003777, GO:0003674, ATPase activity, microtubule binding, ATP binding, microtubule motor activity, molecular_function, GO:0008150, GO:0007018, biological_process, microtubule-based movement, 0 0 0 0 0 0 0 0 0 ENSG00000136888 chr9 114587746 114598373 + ATP6V1G1 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]. 9550 GO:0070062, GO:0016471, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005765, extracellular exosome, vacuolar proton-transporting V-type ATPase complex, plasma membrane, plasma membrane, cytosol, cytosol, lysosomal membrane, GO:0051117, GO:0016887, GO:0005515, ATPase binding, ATPase activity, protein binding, GO:1902600, GO:0090383, GO:0036295, GO:0034220, GO:0033572, GO:0016241, GO:0008286, GO:0006879, proton transmembrane transport, phagosome acidification, cellular response to increased oxygen levels, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, cellular iron ion homeostasis, 1164 1023 1177 895 1213 915 981 1043 752 ENSG00000136891 chr9 100302077 100352939 - TEX10 protein_coding 54881 GO:0097344, GO:0071339, GO:0071339, GO:0005737, GO:0005730, GO:0005654, Rix1 complex, MLL1 complex, MLL1 complex, cytoplasm, nucleolus, nucleoplasm, GO:0005515, protein binding, GO:0006364, rRNA processing, 44 55 57 182 197 166 166 100 133 ENSG00000136895 chr9 127224265 127393660 + GARNL3 protein_coding 84253 GO:0005737, cytoplasm, GO:0005096, GO:0005096, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0051056, GO:0043547, activation of GTPase activity, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, 0 1 2 3 1 2 1 0 4 ENSG00000136897 chr9 101387633 101398614 - MRPL50 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]. 54534 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 53 46 82 78 74 91 68 56 79 ENSG00000136908 chr9 127935099 127938484 - DPM2 protein_coding Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]. 8818 GO:0033185, GO:0033185, GO:0030176, GO:0005789, GO:0000506, GO:0000506, dolichol-phosphate-mannose synthase complex, dolichol-phosphate-mannose synthase complex, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, GO:0030234, GO:0008047, GO:0005515, GO:0004582, enzyme regulator activity, enzyme activator activity, protein binding, dolichyl-phosphate beta-D-mannosyltransferase activity, GO:0043085, GO:0035269, GO:0031647, GO:0019348, GO:0018279, GO:0016254, GO:0006506, GO:0006506, positive regulation of catalytic activity, protein O-linked mannosylation, regulation of protein stability, dolichol metabolic process, protein N-linked glycosylation via asparagine, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 23 31 20 42 28 26 58 23 42 ENSG00000136918 chr9 124853417 124857890 + WDR38 protein_coding 401551 0 0 0 0 0 0 0 4 0 ENSG00000136925 chr9 97600080 97633575 - TSTD2 protein_coding 158427 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 85 84 162 105 53 69 101 41 76 ENSG00000136928 chr9 98288082 98709197 - GABBR2 protein_coding The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]. 9568 GO:1902710, GO:0045211, GO:0043005, GO:0038039, GO:0038039, GO:0005887, GO:0005886, GO:0005737, GABA receptor complex, postsynaptic membrane, neuron projection, G protein-coupled receptor heterodimeric complex, G protein-coupled receptor heterodimeric complex, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0046982, GO:0005515, GO:0004965, GO:0004888, protein heterodimerization activity, protein binding, G protein-coupled GABA receptor activity, transmembrane signaling receptor activity, GO:0150099, GO:0007268, GO:0007214, GO:0007214, GO:0007194, GO:0007186, neuron-glial cell signaling, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, gamma-aminobutyric acid signaling pathway, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, 0 0 1 2 0 0 0 0 0 ENSG00000136929 chr9 97926791 97944856 - HEMGN protein_coding 55363 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0045667, GO:0030154, GO:0007275, regulation of osteoblast differentiation, cell differentiation, multicellular organism development, 4 1 1 3 2 0 2 3 2 ENSG00000136930 chr9 124353466 124415444 - PSMB7 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]. 5695 GO:1904813, GO:0034774, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, secretory granule lumen, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular region, proteasome complex, GO:0005515, GO:0004298, GO:0004175, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 265 309 345 135 237 227 166 211 173 ENSG00000136931 chr9 124481236 124507430 - NR5A1 protein_coding The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]. 2516 GO:0090575, GO:0090575, GO:0005654, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0019899, GO:0008270, GO:0005543, GO:0005515, GO:0004879, GO:0003682, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, enzyme binding, zinc ion binding, phospholipid binding, protein binding, nuclear receptor activity, chromatin binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000195, GO:2000020, GO:0097720, GO:0097210, GO:0051457, GO:0050810, GO:0045944, GO:0045944, GO:0045944, GO:0042445, GO:0030522, GO:0030325, GO:0030238, GO:0030154, GO:0010628, GO:0010628, GO:0010259, GO:0009888, GO:0009755, GO:0008585, GO:0008584, GO:0007538, GO:0007530, GO:0006367, GO:0006357, GO:0001553, negative regulation of female gonad development, positive regulation of male gonad development, calcineurin-mediated signaling, response to gonadotropin-releasing hormone, maintenance of protein location in nucleus, regulation of steroid biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, hormone metabolic process, intracellular receptor signaling pathway, adrenal gland development, male sex determination, cell differentiation, positive regulation of gene expression, positive regulation of gene expression, multicellular organism aging, tissue development, hormone-mediated signaling pathway, female gonad development, male gonad development, primary sex determination, sex determination, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, luteinization, 4 3 0 1 2 0 2 0 0 ENSG00000136932 chr9 97904489 97922570 - TRMO protein_coding 51531 GO:0016430, GO:0016430, GO:0005515, tRNA (adenine-N6-)-methyltransferase activity, tRNA (adenine-N6-)-methyltransferase activity, protein binding, GO:0030488, tRNA methylation, 426 426 453 318 498 464 281 306 312 ENSG00000136933 chr9 125200542 125234158 + RABEPK protein_coding 10244 GO:0032588, GO:0030133, GO:0010008, GO:0005829, GO:0005768, trans-Golgi network membrane, transport vesicle, endosome membrane, cytosol, endosome, GO:0005515, protein binding, GO:0006904, GO:0006898, vesicle docking involved in exocytosis, receptor-mediated endocytosis, 78 59 77 73 119 170 83 113 77 ENSG00000136935 chr9 124878357 124948492 - GOLGA1 protein_coding The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein is associated with Sjogren's syndrome. [provided by RefSeq, Feb 2010]. 2800 GO:0048471, GO:0005829, GO:0005802, GO:0005794, GO:0005794, GO:0001669, GO:0000139, perinuclear region of cytoplasm, cytosol, trans-Golgi network, Golgi apparatus, Golgi apparatus, acrosomal vesicle, Golgi membrane, GO:0005515, protein binding, 298 328 413 254 352 353 279 313 307 ENSG00000136936 chr9 97674909 97697357 - XPA protein_coding This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]. 7507 GO:0045171, GO:0005737, GO:0005662, GO:0005654, GO:0005654, GO:0005634, GO:0000110, intercellular bridge, cytoplasm, DNA replication factor A complex, nucleoplasm, nucleoplasm, nucleus, nucleotide-excision repair factor 1 complex, GO:1990837, GO:0046872, GO:0042803, GO:0019904, GO:0005515, GO:0003684, GO:0003684, sequence-specific double-stranded DNA binding, metal ion binding, protein homodimerization activity, protein domain specific binding, protein binding, damaged DNA binding, damaged DNA binding, GO:1901255, GO:0070914, GO:0070911, GO:0060261, GO:0035264, GO:0034504, GO:0033683, GO:0033683, GO:0033683, GO:0010996, GO:0010506, GO:0009650, GO:0009650, GO:0009636, GO:0008630, GO:0006979, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006284, GO:0006283, GO:0006281, GO:0006281, GO:0000717, GO:0000715, nucleotide-excision repair involved in interstrand cross-link repair, UV-damage excision repair, global genome nucleotide-excision repair, positive regulation of transcription initiation from RNA polymerase II promoter, multicellular organism growth, protein localization to nucleus, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA incision, response to auditory stimulus, regulation of autophagy, UV protection, UV protection, response to toxic substance, intrinsic apoptotic signaling pathway in response to DNA damage, response to oxidative stress, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, base-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, DNA repair, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, 21 8 24 41 40 40 50 27 45 ENSG00000136937 chr9 97633626 97673748 + NCBP1 protein_coding The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]. 4686 GO:1990904, GO:0034518, GO:0034518, GO:0005846, GO:0005845, GO:0005845, GO:0005829, GO:0005829, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, RNA cap binding complex, RNA cap binding complex, nuclear cap binding complex, mRNA cap binding complex, mRNA cap binding complex, cytosol, cytosol, mitochondrion, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003729, GO:0003723, GO:0000340, GO:0000339, protein binding, mRNA binding, RNA binding, RNA 7-methylguanosine cap binding, RNA cap binding, GO:1905216, GO:1900363, GO:0098789, GO:0051168, GO:0050684, GO:0048026, GO:0045292, GO:0042795, GO:0031442, GO:0031124, GO:0031047, GO:0030307, GO:0016070, GO:0008543, GO:0008380, GO:0008334, GO:0006446, GO:0006406, GO:0006406, GO:0006406, GO:0006405, GO:0006401, GO:0006370, GO:0006370, GO:0006369, GO:0006368, GO:0006366, GO:0000398, GO:0000245, GO:0000184, GO:0000184, GO:0000184, GO:0000184, positive regulation of RNA binding, regulation of mRNA polyadenylation, pre-mRNA cleavage required for polyadenylation, nuclear export, regulation of mRNA processing, positive regulation of mRNA splicing, via spliceosome, mRNA cis splicing, via spliceosome, snRNA transcription by RNA polymerase II, positive regulation of mRNA 3'-end processing, mRNA 3'-end processing, gene silencing by RNA, positive regulation of cell growth, RNA metabolic process, fibroblast growth factor receptor signaling pathway, RNA splicing, histone mRNA metabolic process, regulation of translational initiation, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, RNA catabolic process, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, termination of RNA polymerase II transcription, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, mRNA splicing, via spliceosome, spliceosomal complex assembly, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 153 158 194 159 179 204 173 114 171 ENSG00000136938 chr9 97983361 98015943 + ANP32B protein_coding 10541 GO:0070062, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005634, extracellular exosome, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, nucleus, GO:0070063, GO:0042393, GO:0042393, GO:0005515, RNA polymerase binding, histone binding, histone binding, protein binding, GO:0060021, GO:0048839, GO:0046827, GO:0045596, GO:0042981, GO:0021591, GO:0006919, GO:0006334, GO:0001944, roof of mouth development, inner ear development, positive regulation of protein export from nucleus, negative regulation of cell differentiation, regulation of apoptotic process, ventricular system development, activation of cysteine-type endopeptidase activity involved in apoptotic process, nucleosome assembly, vasculature development, 295 277 351 406 291 487 303 336 388 ENSG00000136939 chr9 122723990 122724925 + OR1L4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 254973 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 2 0 0 0 0 0 0 0 ENSG00000136940 chr9 122798389 122828631 - PDCL protein_coding Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]. 5082 GO:0005929, GO:0005829, GO:0005737, cilium, cytosol, cytoplasm, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:1902605, GO:0061084, GO:0045880, GO:0030030, GO:0008277, GO:0007601, GO:0007165, GO:0006457, heterotrimeric G-protein complex assembly, negative regulation of protein refolding, positive regulation of smoothened signaling pathway, cell projection organization, regulation of G protein-coupled receptor signaling pathway, visual perception, signal transduction, protein folding, 65 52 54 38 56 83 42 58 46 ENSG00000136942 chr9 124857880 124861981 - RPL35 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 11224 GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005730, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, nucleolus, GO:0003735, GO:0003729, GO:0003723, structural constituent of ribosome, mRNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000463, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 321 189 480 988 445 1145 768 433 907 ENSG00000136943 chr9 97029679 97039643 - CTSV protein_coding The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]. 1515 GO:0045177, GO:0043204, GO:0043202, GO:0043005, GO:0030141, GO:0009897, GO:0005902, GO:0005764, GO:0005615, GO:0005576, apical part of cell, perikaryon, lysosomal lumen, neuron projection, secretory granule, external side of plasma membrane, microvillus, lysosome, extracellular space, extracellular region, GO:0044877, GO:0042277, GO:0030984, GO:0008234, GO:0005515, GO:0004197, GO:0004177, protein-containing complex binding, peptide binding, kininogen binding, cysteine-type peptidase activity, protein binding, cysteine-type endopeptidase activity, aminopeptidase activity, GO:1990834, GO:0060008, GO:0051603, GO:0051384, GO:0048102, GO:0046697, GO:0045616, GO:0034698, GO:0022617, GO:0021675, GO:0019886, GO:0010259, GO:0009749, GO:0009267, GO:0007283, GO:0006955, response to odorant, Sertoli cell differentiation, proteolysis involved in cellular protein catabolic process, response to glucocorticoid, autophagic cell death, decidualization, regulation of keratinocyte differentiation, response to gonadotropin, extracellular matrix disassembly, nerve development, antigen processing and presentation of exogenous peptide antigen via MHC class II, multicellular organism aging, response to glucose, cellular response to starvation, spermatogenesis, immune response, 3 2 4 0 2 0 0 1 1 ENSG00000136944 chr9 126614443 126701032 + LMX1B protein_coding This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 4010 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071542, GO:0045944, GO:0045944, GO:0030182, GO:0030182, GO:0009953, GO:0007275, GO:0006357, GO:0006355, GO:0001701, dopaminergic neuron differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, neuron differentiation, neuron differentiation, dorsal/ventral pattern formation, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, in utero embryonic development, 0 0 0 0 0 0 0 0 0 ENSG00000136950 chr9 124862130 124877733 + ARPC5L protein_coding 81873 GO:0070062, GO:0005925, GO:0005885, GO:0005737, extracellular exosome, focal adhesion, Arp2/3 protein complex, cytoplasm, GO:0051015, GO:0005515, GO:0003674, actin filament binding, protein binding, molecular_function, GO:0034314, GO:0016477, GO:0008150, Arp2/3 complex-mediated actin nucleation, cell migration, biological_process, 112 83 169 155 140 197 141 103 190 ENSG00000136960 chr8 119557086 119673453 - ENPP2 protein_coding The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]. 5168 GO:0005886, GO:0005615, GO:0005615, GO:0005615, plasma membrane, extracellular space, extracellular space, extracellular space, GO:0047391, GO:0030247, GO:0016787, GO:0008270, GO:0008270, GO:0008270, GO:0008134, GO:0005509, GO:0005509, GO:0005509, GO:0005044, GO:0004622, GO:0004622, GO:0004551, GO:0004528, GO:0003676, alkylglycerophosphoethanolamine phosphodiesterase activity, polysaccharide binding, hydrolase activity, zinc ion binding, zinc ion binding, zinc ion binding, transcription factor binding, calcium ion binding, calcium ion binding, calcium ion binding, scavenger receptor activity, lysophospholipase activity, lysophospholipase activity, nucleotide diphosphatase activity, phosphodiesterase I activity, nucleic acid binding, GO:2000394, GO:0090305, GO:0050731, GO:0048870, GO:0045765, GO:0034638, GO:0034638, GO:0030334, GO:0030149, GO:0010634, GO:0010634, GO:0009395, GO:0006955, GO:0006935, GO:0006897, positive regulation of lamellipodium morphogenesis, nucleic acid phosphodiester bond hydrolysis, positive regulation of peptidyl-tyrosine phosphorylation, cell motility, regulation of angiogenesis, phosphatidylcholine catabolic process, phosphatidylcholine catabolic process, regulation of cell migration, sphingolipid catabolic process, positive regulation of epithelial cell migration, positive regulation of epithelial cell migration, phospholipid catabolic process, immune response, chemotaxis, endocytosis, 6 11 17 9 4 7 22 13 8 ENSG00000136982 chr8 119833976 119856010 - DSCC1 protein_coding CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]. 79075 GO:0031390, GO:0031390, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000775, GO:0000775, Ctf18 RFC-like complex, Ctf18 RFC-like complex, nucleoplasm, nucleus, chromatin, chromatin, chromosome, centromeric region, chromosome, centromeric region, GO:0017116, GO:0005515, GO:0003689, GO:0003689, single-stranded DNA helicase activity, protein binding, DNA clamp loader activity, DNA clamp loader activity, GO:1900264, GO:0034421, GO:0034088, GO:0034088, GO:0032508, GO:0006275, GO:0006275, GO:0006260, positive regulation of DNA-directed DNA polymerase activity, post-translational protein acetylation, maintenance of mitotic sister chromatid cohesion, maintenance of mitotic sister chromatid cohesion, DNA duplex unwinding, regulation of DNA replication, regulation of DNA replication, DNA replication, 0 0 1 0 3 0 0 0 4 ENSG00000136986 chr8 123013164 123042423 - DERL1 protein_coding The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]. 79139 GO:0048500, GO:0036513, GO:0036502, GO:0030176, GO:0030176, GO:0016021, GO:0016020, GO:0005789, GO:0005785, GO:0005783, GO:0005783, GO:0005770, GO:0005769, GO:0000839, signal recognition particle, Derlin-1 retrotranslocation complex, Derlin-1-VIMP complex, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, signal recognition particle receptor complex, endoplasmic reticulum, endoplasmic reticulum, late endosome, early endosome, Hrd1p ubiquitin ligase ERAD-L complex, GO:1990381, GO:1990381, GO:0051787, GO:0051117, GO:0042802, GO:0042288, GO:0038023, GO:0031625, GO:0005515, GO:0002020, ubiquitin-specific protease binding, ubiquitin-specific protease binding, misfolded protein binding, ATPase binding, identical protein binding, MHC class I protein binding, signaling receptor activity, ubiquitin protein ligase binding, protein binding, protease binding, GO:0071712, GO:0055085, GO:0045184, GO:0036503, GO:0032092, GO:0031648, GO:0031398, GO:0030970, GO:0030970, GO:0030968, GO:0030968, GO:0030433, GO:0030433, GO:0030433, GO:0030433, GO:0016567, GO:0016032, GO:0006986, GO:0006457, ER-associated misfolded protein catabolic process, transmembrane transport, establishment of protein localization, ERAD pathway, positive regulation of protein binding, protein destabilization, positive regulation of protein ubiquitination, retrograde protein transport, ER to cytosol, retrograde protein transport, ER to cytosol, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, viral process, response to unfolded protein, protein folding, 499 548 716 655 853 925 647 476 597 ENSG00000136997 chr8 127735434 127741434 + MYC protein_coding This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]. 4609 GO:0032991, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, protein-containing complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0070888, GO:0070491, GO:0046983, GO:0044877, GO:0033613, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0003677, GO:0001228, GO:0001227, GO:0001046, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, E-box binding, repressing transcription factor binding, protein dimerization activity, protein-containing complex binding, activating transcription factor binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, core promoter sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001022, GO:2000573, GO:1905643, GO:1904837, GO:1904672, GO:0090096, GO:0071456, GO:0070848, GO:0070371, GO:0051973, GO:0051782, GO:0051276, GO:0050679, GO:0048147, GO:0048146, GO:0048146, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045656, GO:0044346, GO:0043280, GO:0043066, GO:0042493, GO:0035690, GO:0034644, GO:0032986, GO:0032873, GO:0032204, GO:0019221, GO:0016579, GO:0015671, GO:0010628, GO:0010628, GO:0010468, GO:0010332, GO:0008284, GO:0008284, GO:0007219, GO:0007050, GO:0006974, GO:0006879, GO:0006357, GO:0006357, GO:0006338, GO:0006112, GO:0002053, GO:0001658, GO:0000165, GO:0000122, GO:0000122, GO:0000082, positive regulation of response to DNA damage stimulus, positive regulation of DNA biosynthetic process, positive regulation of DNA methylation, beta-catenin-TCF complex assembly, regulation of somatic stem cell population maintenance, positive regulation of metanephric cap mesenchymal cell proliferation, cellular response to hypoxia, response to growth factor, ERK1 and ERK2 cascade, positive regulation of telomerase activity, negative regulation of cell division, chromosome organization, positive regulation of epithelial cell proliferation, negative regulation of fibroblast proliferation, positive regulation of fibroblast proliferation, positive regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of monocyte differentiation, fibroblast apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, response to drug, cellular response to drug, cellular response to UV, protein-DNA complex disassembly, negative regulation of stress-activated MAPK cascade, regulation of telomere maintenance, cytokine-mediated signaling pathway, protein deubiquitination, oxygen transport, positive regulation of gene expression, positive regulation of gene expression, regulation of gene expression, response to gamma radiation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, Notch signaling pathway, cell cycle arrest, cellular response to DNA damage stimulus, cellular iron ion homeostasis, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, energy reserve metabolic process, positive regulation of mesenchymal cell proliferation, branching involved in ureteric bud morphogenesis, MAPK cascade, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 14 23 40 70 21 73 107 41 81 ENSG00000136999 chr8 119416306 119424353 + NOV protein_coding The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]. 4856 GO:0062023, GO:0043231, GO:0043025, GO:0031012, GO:0030425, GO:0030424, GO:0005921, GO:0005921, GO:0005737, GO:0005737, GO:0005576, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, neuronal cell body, extracellular matrix, dendrite, axon, gap junction, gap junction, cytoplasm, cytoplasm, extracellular region, GO:0008201, GO:0008083, GO:0005520, GO:0005515, GO:0005178, GO:0005178, GO:0005112, heparin binding, growth factor activity, insulin-like growth factor binding, protein binding, integrin binding, integrin binding, Notch binding, GO:1990523, GO:1904057, GO:1902731, GO:1901223, GO:0090027, GO:0071603, GO:0061484, GO:0060548, GO:0060392, GO:0060326, GO:0050728, GO:0048659, GO:0046676, GO:0045747, GO:0044342, GO:0035767, GO:0033627, GO:0030308, GO:0014909, GO:0010832, GO:0010761, GO:0010468, GO:0007165, GO:0007155, GO:0002062, GO:0001525, bone regeneration, negative regulation of sensory perception of pain, negative regulation of chondrocyte proliferation, negative regulation of NIK/NF-kappaB signaling, negative regulation of monocyte chemotaxis, endothelial cell-cell adhesion, hematopoietic stem cell homeostasis, negative regulation of cell death, negative regulation of SMAD protein signal transduction, cell chemotaxis, negative regulation of inflammatory response, smooth muscle cell proliferation, negative regulation of insulin secretion, positive regulation of Notch signaling pathway, type B pancreatic cell proliferation, endothelial cell chemotaxis, cell adhesion mediated by integrin, negative regulation of cell growth, smooth muscle cell migration, negative regulation of myotube differentiation, fibroblast migration, regulation of gene expression, signal transduction, cell adhesion, chondrocyte differentiation, angiogenesis, 257 387 353 37 212 80 81 204 86 ENSG00000137033 chr9 6215786 6257983 + IL33 protein_coding The protein encoded by this gene is a cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. 90865 GO:0030133, GO:0005737, GO:0005654, GO:0005634, GO:0005615, GO:0005576, GO:0000792, transport vesicle, cytoplasm, nucleoplasm, nucleus, extracellular space, extracellular region, heterochromatin, GO:0005515, GO:0005125, GO:0005125, GO:0002112, protein binding, cytokine activity, cytokine activity, interleukin-33 receptor binding, GO:0150145, GO:0150142, GO:0150078, GO:0120042, GO:0097191, GO:0061518, GO:0051770, GO:0051607, GO:0050729, GO:0050729, GO:0045944, GO:0045348, GO:0045345, GO:0043032, GO:0043032, GO:0038172, GO:0038172, GO:0032760, GO:0032755, GO:0032754, GO:0032753, GO:0032736, GO:0032722, GO:0032689, GO:0032436, GO:0016579, GO:0010628, GO:0010186, GO:0002830, GO:0002826, GO:0002686, GO:0002639, GO:0002638, GO:0002282, GO:0001819, GO:0000122, positive regulation of CD80 production, positive regulation of CD86 production, positive regulation of neuroinflammatory response, negative regulation of macrophage proliferation, extrinsic apoptotic signaling pathway, microglial cell proliferation, positive regulation of nitric-oxide synthase biosynthetic process, defense response to virus, positive regulation of inflammatory response, positive regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of MHC class II biosynthetic process, positive regulation of MHC class I biosynthetic process, positive regulation of macrophage activation, positive regulation of macrophage activation, interleukin-33-mediated signaling pathway, interleukin-33-mediated signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-5 production, positive regulation of interleukin-4 production, positive regulation of interleukin-13 production, positive regulation of chemokine production, negative regulation of interferon-gamma production, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein deubiquitination, positive regulation of gene expression, positive regulation of cellular defense response, positive regulation of type 2 immune response, negative regulation of T-helper 1 type immune response, negative regulation of leukocyte migration, positive regulation of immunoglobulin production, negative regulation of immunoglobulin production, microglial cell activation involved in immune response, positive regulation of cytokine production, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000137038 chr9 7796490 7888380 - DMAC1 protein_coding 90871 GO:0016021, GO:0005747, GO:0005747, GO:0005743, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0032981, mitochondrial respiratory chain complex I assembly, 7 8 16 39 23 42 37 23 27 ENSG00000137040 chr9 6011043 6015625 - RANBP6 protein_coding 26953 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0061608, GO:0008139, GO:0005515, nuclear import signal receptor activity, nuclear localization sequence binding, protein binding, GO:0006606, protein import into nucleus, 154 161 221 193 137 178 146 116 155 ENSG00000137054 chr9 37485935 37503697 + POLR1E protein_coding 64425 GO:0005736, GO:0005730, GO:0005654, GO:0005654, GO:0001650, RNA polymerase I complex, nucleolus, nucleoplasm, nucleoplasm, fibrillar center, GO:0005515, GO:0003899, GO:0003677, GO:0001179, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, RNA polymerase I general transcription initiation factor binding, GO:0045815, GO:0042790, GO:0042790, GO:0006363, GO:0006362, GO:0006362, GO:0006361, GO:0001188, positive regulation of gene expression, epigenetic, nucleolar large rRNA transcription by RNA polymerase I, nucleolar large rRNA transcription by RNA polymerase I, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, RNA polymerase I preinitiation complex assembly, 27 12 46 76 22 34 40 17 49 ENSG00000137055 chr9 26904083 26947463 - PLAA protein_coding 9373 GO:0070062, GO:0045202, GO:0005737, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, synapse, cytoplasm, cytoplasm, nucleus, nucleus, GO:0043130, GO:0016005, GO:0005515, ubiquitin binding, phospholipase A2 activator activity, protein binding, GO:2001224, GO:1903861, GO:1903423, GO:1900045, GO:0071222, GO:0043162, GO:0043161, GO:0032430, GO:0016236, GO:0010992, GO:0007165, GO:0006954, GO:0006693, GO:0006644, positive regulation of neuron migration, positive regulation of dendrite extension, positive regulation of synaptic vesicle recycling, negative regulation of protein K63-linked ubiquitination, cellular response to lipopolysaccharide, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of phospholipase A2 activity, macroautophagy, ubiquitin recycling, signal transduction, inflammatory response, prostaglandin metabolic process, phospholipid metabolic process, 518 395 472 262 314 313 317 253 214 ENSG00000137070 chr9 34650702 34661892 + IL11RA protein_coding Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]. 3590 GO:0043235, GO:0009897, GO:0005887, GO:0005886, GO:0005576, receptor complex, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0019970, GO:0019955, GO:0005515, GO:0004921, GO:0004896, GO:0004888, interleukin-11 binding, cytokine binding, protein binding, interleukin-11 receptor activity, cytokine receptor activity, transmembrane signaling receptor activity, GO:0060322, GO:0038154, GO:0032502, GO:0019221, GO:0019221, GO:0008284, head development, interleukin-11-mediated signaling pathway, developmental process, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, 45 36 80 107 52 128 101 28 74 ENSG00000137073 chr9 33921693 34048949 - UBAP2 protein_coding The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 55833 GO:0005737, GO:0005634, GO:0000932, cytoplasm, nucleus, P-body, GO:0045296, GO:0005515, GO:0003723, cadherin binding, protein binding, RNA binding, GO:0046426, GO:0045926, GO:0045893, GO:0043065, GO:0010629, negative regulation of receptor signaling pathway via JAK-STAT, negative regulation of growth, positive regulation of transcription, DNA-templated, positive regulation of apoptotic process, negative regulation of gene expression, 82 58 125 131 118 104 113 86 110 ENSG00000137074 chr9 32972606 33025168 - APTX protein_coding This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]. 54840 GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleolus, nucleoplasm, nucleus, chromatin, chromatin, GO:1990165, GO:0051219, GO:0047485, GO:0046872, GO:0033699, GO:0033699, GO:0030983, GO:0008967, GO:0005515, GO:0003725, GO:0003725, GO:0003697, GO:0003690, GO:0003684, GO:0003682, single-strand break-containing DNA binding, phosphoprotein binding, protein N-terminus binding, metal ion binding, DNA 5'-adenosine monophosphate hydrolase activity, DNA 5'-adenosine monophosphate hydrolase activity, mismatched DNA binding, phosphoglycolate phosphatase activity, protein binding, double-stranded RNA binding, double-stranded RNA binding, single-stranded DNA binding, double-stranded DNA binding, damaged DNA binding, chromatin binding, GO:0090305, GO:0042542, GO:0031647, GO:0016311, GO:0006974, GO:0006302, GO:0006266, GO:0000012, GO:0000012, nucleic acid phosphodiester bond hydrolysis, response to hydrogen peroxide, regulation of protein stability, dephosphorylation, cellular response to DNA damage stimulus, double-strand break repair, DNA ligation, single strand break repair, single strand break repair, 105 129 179 60 64 85 65 71 70 ENSG00000137075 chr9 36336396 36487548 - RNF38 protein_coding This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 152006 GO:0036126, GO:0005654, GO:0005634, sperm flagellum, nucleoplasm, nucleus, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0016567, GO:0016567, GO:0008584, protein ubiquitination, protein ubiquitination, male gonad development, 889 900 965 463 759 603 531 559 496 ENSG00000137076 chr9 35696948 35732395 - TLN1 protein_coding This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq, Feb 2009]. 7094 GO:0070062, GO:0032587, GO:0009986, GO:0005925, GO:0005925, GO:0005925, GO:0005925, GO:0005912, GO:0005886, GO:0005856, GO:0005829, GO:0005576, GO:0001726, extracellular exosome, ruffle membrane, cell surface, focal adhesion, focal adhesion, focal adhesion, focal adhesion, adherens junction, plasma membrane, cytoskeleton, cytosol, extracellular region, ruffle, GO:0051015, GO:0045296, GO:0035091, GO:0030274, GO:0017166, GO:0005515, GO:0005200, GO:0005178, GO:0005178, GO:0001786, actin filament binding, cadherin binding, phosphatidylinositol binding, LIM domain binding, vinculin binding, protein binding, structural constituent of cytoskeleton, integrin binding, integrin binding, phosphatidylserine binding, GO:0098609, GO:0070527, GO:0036498, GO:0033622, GO:0030866, GO:0016032, GO:0007229, GO:0007044, GO:0007043, GO:0006936, GO:0002576, cell-cell adhesion, platelet aggregation, IRE1-mediated unfolded protein response, integrin activation, cortical actin cytoskeleton organization, viral process, integrin-mediated signaling pathway, cell-substrate junction assembly, cell-cell junction assembly, muscle contraction, platelet degranulation, 16429 17164 24531 5843 7326 8311 7051 6392 7508 ENSG00000137077 chr9 34709005 34710124 - CCL21 protein_coding This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, Sep 2014]. 6366 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0042379, GO:0031732, GO:0008009, GO:0008009, GO:0008009, GO:0005515, CCR chemokine receptor binding, chemokine receptor binding, CCR7 chemokine receptor binding, chemokine activity, chemokine activity, chemokine activity, protein binding, GO:2000669, GO:2000548, GO:2000529, GO:2000406, GO:2000147, GO:1990869, GO:1903237, GO:0097026, GO:0090630, GO:0090023, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070374, GO:0070098, GO:0060326, GO:0051897, GO:0051491, GO:0051209, GO:0050921, GO:0048469, GO:0048260, GO:0048247, GO:0048245, GO:0046330, GO:0045860, GO:0043552, GO:0043547, GO:0043123, GO:0038116, GO:0035759, GO:0034695, GO:0033630, GO:0031529, GO:0031295, GO:0031274, GO:0030838, GO:0030593, GO:0010820, GO:0010560, GO:0007267, GO:0007186, GO:0007186, GO:0007186, GO:0006955, GO:0006954, GO:0006954, GO:0002606, GO:0002548, GO:0002407, GO:0001954, GO:0001771, GO:0001768, negative regulation of dendritic cell apoptotic process, negative regulation of dendritic cell dendrite assembly, positive regulation of myeloid dendritic cell chemotaxis, positive regulation of T cell migration, positive regulation of cell motility, cellular response to chemokine, negative regulation of leukocyte tethering or rolling, dendritic cell dendrite assembly, activation of GTPase activity, positive regulation of neutrophil chemotaxis, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, cell chemotaxis, positive regulation of protein kinase B signaling, positive regulation of filopodium assembly, release of sequestered calcium ion into cytosol, positive regulation of chemotaxis, cell maturation, positive regulation of receptor-mediated endocytosis, lymphocyte chemotaxis, eosinophil chemotaxis, positive regulation of JNK cascade, positive regulation of protein kinase activity, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of GTPase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, chemokine (C-C motif) ligand 21 signaling pathway, mesangial cell-matrix adhesion, response to prostaglandin E, positive regulation of cell adhesion mediated by integrin, ruffle organization, T cell costimulation, positive regulation of pseudopodium assembly, positive regulation of actin filament polymerization, neutrophil chemotaxis, positive regulation of T cell chemotaxis, positive regulation of glycoprotein biosynthetic process, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, inflammatory response, inflammatory response, positive regulation of dendritic cell antigen processing and presentation, monocyte chemotaxis, dendritic cell chemotaxis, positive regulation of cell-matrix adhesion, immunological synapse formation, establishment of T cell polarity, 0 0 0 0 0 0 0 0 0 ENSG00000137078 chr9 35649295 35650950 - SIT1 protein_coding 27240 GO:0070062, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042169, GO:0019900, GO:0019900, GO:0005515, SH2 domain binding, kinase binding, kinase binding, protein binding, GO:0050863, GO:0050863, GO:0043029, GO:0007165, GO:0002250, regulation of T cell activation, regulation of T cell activation, T cell homeostasis, signal transduction, adaptive immune response, 11 5 21 55 5 41 42 12 50 ENSG00000137080 chr9 21165637 21166660 - IFNA21 protein_coding This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011]. 3452 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005132, GO:0005126, GO:0005125, type I interferon receptor binding, cytokine receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 1 0 0 ENSG00000137090 chr9 841690 969090 + DMRT1 protein_coding This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]. 1761 GO:0005737, GO:0005634, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0042802, GO:0003682, GO:0001228, GO:0000987, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, identical protein binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000020, GO:1900107, GO:0060903, GO:0060009, GO:0060008, GO:0048599, GO:0046661, GO:0045944, GO:0045840, GO:0045835, GO:0035556, GO:0030238, GO:0008354, GO:0007548, GO:0007283, GO:0007281, GO:0006357, GO:0002176, GO:0000902, GO:0000122, positive regulation of male gonad development, regulation of nodal signaling pathway, positive regulation of meiosis I, Sertoli cell development, Sertoli cell differentiation, oocyte development, male sex differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic nuclear division, negative regulation of meiotic nuclear division, intracellular signal transduction, male sex determination, germ cell migration, sex differentiation, spermatogenesis, germ cell development, regulation of transcription by RNA polymerase II, male germ cell proliferation, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000137094 chr9 34989641 34998900 + DNAJB5 protein_coding This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks the cysteine-rich domain found in other DNAJ family members. In mice, a multi-protein complex containing this protein, thioredoxin 1, and histone deacetylase 4, serves as a master negative regulator of cardiac hypertrophy. [provided by RefSeq, Mar 2017]. 25822 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0051087, GO:0051087, GO:0051082, GO:0005515, chaperone binding, chaperone binding, unfolded protein binding, protein binding, GO:0051085, GO:0006986, GO:0000122, chaperone cofactor-dependent protein refolding, response to unfolded protein, negative regulation of transcription by RNA polymerase II, 132 192 142 39 70 65 43 64 44 ENSG00000137098 chr9 35808045 35812272 - SPAG8 protein_coding The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]. 26206 GO:0016020, GO:0005819, GO:0005737, GO:0005634, GO:0001669, membrane, spindle, cytoplasm, nucleus, acrosomal vesicle, GO:0008017, GO:0005515, GO:0003674, microtubule binding, protein binding, molecular_function, GO:0045944, GO:0030154, GO:0008150, GO:0007338, GO:0007283, GO:0007049, positive regulation of transcription by RNA polymerase II, cell differentiation, biological_process, single fertilization, spermatogenesis, cell cycle, 3 0 3 1 1 15 9 1 3 ENSG00000137100 chr9 34613545 34620523 - DCTN3 protein_coding This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 11258 GO:0048471, GO:0032154, GO:0030496, GO:0005874, GO:0005869, GO:0005869, GO:0005829, GO:0005829, GO:0005819, GO:0005813, GO:0005730, GO:0000777, perinuclear region of cytoplasm, cleavage furrow, midbody, microtubule, dynactin complex, dynactin complex, cytosol, cytosol, spindle, centrosome, nucleolus, condensed chromosome kinetochore, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0097711, GO:0061640, GO:0061640, GO:0019886, GO:0010389, GO:0006888, GO:0000278, GO:0000086, ciliary basal body-plasma membrane docking, cytoskeleton-dependent cytokinesis, cytoskeleton-dependent cytokinesis, antigen processing and presentation of exogenous peptide antigen via MHC class II, regulation of G2/M transition of mitotic cell cycle, endoplasmic reticulum to Golgi vesicle-mediated transport, mitotic cell cycle, G2/M transition of mitotic cell cycle, 203 179 198 161 193 188 141 190 101 ENSG00000137101 chr9 35609533 35646810 - CD72 protein_coding 971 GO:0005887, GO:0005887, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0030246, GO:0005515, GO:0005102, GO:0004888, carbohydrate binding, protein binding, signaling receptor binding, transmembrane signaling receptor activity, GO:0007155, cell adhesion, 25 22 21 32 17 52 39 22 12 ENSG00000137103 chr9 35814451 35865518 + TMEM8B protein_coding 51754 GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005783, GO:0005739, GO:0005634, integral component of membrane, cell surface, plasma membrane, plasma membrane, endoplasmic reticulum, mitochondrion, nucleus, GO:0005515, protein binding, GO:0040008, GO:0007346, GO:0007160, regulation of growth, regulation of mitotic cell cycle, cell-matrix adhesion, 8 11 29 26 6 32 18 12 18 ENSG00000137106 chr9 37422666 37436990 + GRHPR protein_coding This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]. 9380 GO:1902494, GO:0070062, GO:0005829, GO:0005782, GO:0005737, catalytic complex, extracellular exosome, cytosol, peroxisomal matrix, cytoplasm, GO:0070402, GO:0051287, GO:0042803, GO:0031406, GO:0030267, GO:0030267, GO:0030267, GO:0016618, GO:0016618, GO:0008465, GO:0008465, NADPH binding, NAD binding, protein homodimerization activity, carboxylic acid binding, glyoxylate reductase (NADP) activity, glyoxylate reductase (NADP) activity, glyoxylate reductase (NADP) activity, hydroxypyruvate reductase activity, hydroxypyruvate reductase activity, glycerate dehydrogenase activity, glycerate dehydrogenase activity, GO:0055114, GO:0046487, GO:0043648, GO:0034641, GO:0007588, oxidation-reduction process, glyoxylate metabolic process, dicarboxylic acid metabolic process, cellular nitrogen compound metabolic process, excretion, 219 66 56 167 70 81 202 59 61 ENSG00000137124 chr9 38392664 38398661 + ALDH1B1 protein_coding This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]. 219 GO:0043231, GO:0005759, GO:0005739, GO:0005654, intracellular membrane-bounded organelle, mitochondrial matrix, mitochondrion, nucleoplasm, GO:0051287, GO:0043878, GO:0004029, NAD binding, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity, aldehyde dehydrogenase (NAD+) activity, GO:0006069, GO:0006068, GO:0005975, ethanol oxidation, ethanol catabolic process, carbohydrate metabolic process, 4 3 0 4 1 2 2 1 0 ENSG00000137133 chr9 35812960 35815354 - HINT2 protein_coding Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]. 84681 GO:0005739, GO:0005739, GO:0005739, GO:0005737, GO:0005730, mitochondrion, mitochondrion, mitochondrion, cytoplasm, nucleolus, GO:0016787, GO:0000166, hydrolase activity, nucleotide binding, GO:2000757, GO:0016042, GO:0006915, GO:0006694, negative regulation of peptidyl-lysine acetylation, lipid catabolic process, apoptotic process, steroid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000137135 chr9 35658875 35675866 - ARHGEF39 protein_coding 84904 GO:0005886, GO:0005886, plasma membrane, plasma membrane, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0030335, GO:0030335, positive regulation of cell migration, positive regulation of cell migration, 19 6 25 20 23 41 35 21 45 ENSG00000137142 chr9 38408994 38424447 - IGFBPL1 protein_coding 347252 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0005520, GO:0003674, insulin-like growth factor binding, molecular_function, GO:0071228, GO:0009966, GO:0001558, cellular response to tumor cell, regulation of signal transduction, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000137145 chr9 19230435 19373545 + DENND4C protein_coding 55667 GO:0043231, GO:0032593, GO:0031410, GO:0030904, GO:0030659, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005794, intracellular membrane-bounded organelle, insulin-responsive compartment, cytoplasmic vesicle, retromer complex, cytoplasmic vesicle membrane, plasma membrane, cytosol, cytosol, cytosol, Golgi apparatus, GO:0005085, GO:0005085, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0072659, GO:0032869, GO:0032483, GO:0015031, protein localization to plasma membrane, cellular response to insulin stimulus, regulation of Rab protein signal transduction, protein transport, 211 185 337 217 139 331 283 124 214 ENSG00000137154 chr9 19375715 19380254 - RPS6 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6194 GO:1990904, GO:0048471, GO:0044297, GO:0036464, GO:0030425, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0005844, GO:0005829, GO:0005829, GO:0005783, GO:0005730, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, perinuclear region of cytoplasm, cell body, cytoplasmic ribonucleoprotein granule, dendrite, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, polysome, cytosol, cytosol, endoplasmic reticulum, nucleolus, nucleoplasm, nucleus, nucleus, GO:0019901, GO:0005515, GO:0003735, GO:0003723, protein kinase binding, protein binding, structural constituent of ribosome, RNA binding, GO:0048821, GO:0043066, GO:0043065, GO:0042593, GO:0042274, GO:0033077, GO:0031929, GO:0022605, GO:0019083, GO:0008284, GO:0007369, GO:0007093, GO:0006924, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0006364, GO:0002309, GO:0001890, GO:0000184, GO:0000082, erythrocyte development, negative regulation of apoptotic process, positive regulation of apoptotic process, glucose homeostasis, ribosomal small subunit biogenesis, T cell differentiation in thymus, TOR signaling, mammalian oogenesis stage, viral transcription, positive regulation of cell population proliferation, gastrulation, mitotic cell cycle checkpoint, activation-induced cell death of T cells, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, rRNA processing, T cell proliferation involved in immune response, placenta development, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, G1/S transition of mitotic cell cycle, 1630 1141 2216 4358 2070 4388 2933 1861 3111 ENSG00000137161 chr6 42929192 42939287 + CNPY3 protein_coding This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]. 10695 GO:0005788, endoplasmic reticulum lumen, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0045087, GO:0002224, innate immune response, toll-like receptor signaling pathway, 3544 3619 4018 1188 2853 1641 1524 2574 1689 ENSG00000137166 chr6 41546426 41602384 + FOXP4 protein_coding This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008]. 116113 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 5 6 16 39 8 47 37 8 31 ENSG00000137168 chr6 36854827 36875024 - PPIL1 protein_coding This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]. 51645 GO:0071013, GO:0071007, GO:0005654, GO:0005634, GO:0005634, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nucleoplasm, nucleus, nucleus, GO:0097718, GO:0016018, GO:0005515, GO:0003755, GO:0003755, disordered domain specific binding, cyclosporin A binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, GO:0000413, GO:0000398, GO:0000398, GO:0000398, protein folding, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 8 4 18 8 1 17 6 5 14 ENSG00000137171 chr6 43040777 43075099 + KLC4 protein_coding 89953 GO:0005874, GO:0005871, GO:0005737, microtubule, kinesin complex, cytoplasm, GO:0005515, protein binding, 185 256 230 189 342 222 198 228 209 ENSG00000137177 chr6 17759183 17987623 - KIF13A protein_coding This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 63971 GO:0032588, GO:0030496, GO:0010008, GO:0005874, GO:0005871, GO:0005813, trans-Golgi network membrane, midbody, endosome membrane, microtubule, kinesin complex, centrosome, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003777, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, microtubule motor activity, GO:0072383, GO:0051301, GO:0043001, GO:0035459, GO:0032465, GO:0032438, GO:0008333, GO:0007049, GO:0007018, GO:0006886, GO:0006886, plus-end-directed vesicle transport along microtubule, cell division, Golgi to plasma membrane protein transport, vesicle cargo loading, regulation of cytokinesis, melanosome organization, endosome to lysosome transport, cell cycle, microtubule-based movement, intracellular protein transport, intracellular protein transport, 1680 1433 2213 611 1009 849 729 727 745 ENSG00000137185 chr6 28224886 28233482 + ZSCAN9 protein_coding 7746 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 28 44 38 30 61 32 32 55 46 ENSG00000137193 chr6 37170203 37175426 + PIM1 protein_coding The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]. 5292 GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0043024, GO:0030145, GO:0008134, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ribosomal small subunit binding, manganese ion binding, transcription factor binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1990748, GO:1905062, GO:1902033, GO:0090336, GO:0070561, GO:0060045, GO:0050821, GO:0046777, GO:0046777, GO:0045893, GO:0043433, GO:0043066, GO:0030212, GO:0022898, GO:0019221, GO:0007275, GO:0007049, GO:0006915, GO:0006468, cellular detoxification, positive regulation of cardioblast proliferation, regulation of hematopoietic stem cell proliferation, positive regulation of brown fat cell differentiation, vitamin D receptor signaling pathway, positive regulation of cardiac muscle cell proliferation, protein stabilization, protein autophosphorylation, protein autophosphorylation, positive regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, negative regulation of apoptotic process, hyaluronan metabolic process, regulation of transmembrane transporter activity, cytokine-mediated signaling pathway, multicellular organism development, cell cycle, apoptotic process, protein phosphorylation, 665 616 1147 537 612 659 685 619 621 ENSG00000137198 chr6 16238580 16295549 + GMPR protein_coding This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]. 2766 GO:1902560, GO:0005829, GMP reductase complex, cytosol, GO:0046872, GO:0003920, metal ion binding, GMP reductase activity, GO:0055114, GO:0043101, GO:0009409, GO:0006163, GO:0006144, oxidation-reduction process, purine-containing compound salvage, response to cold, purine nucleotide metabolic process, purine nucleobase metabolic process, 3 0 6 1 7 0 0 1 2 ENSG00000137200 chr6 37433219 37482827 + CMTR1 protein_coding 23070 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0004483, GO:0004483, GO:0003676, mRNA (nucleoside-2'-O-)-methyltransferase activity, mRNA (nucleoside-2'-O-)-methyltransferase activity, nucleic acid binding, GO:0097309, GO:0097309, GO:0080009, GO:0006370, GO:0006370, GO:0006370, cap1 mRNA methylation, cap1 mRNA methylation, mRNA methylation, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, 346 335 471 379 325 344 409 271 322 ENSG00000137203 chr6 10393186 10419659 - TFAP2A protein_coding The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]. 7020 GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0043565, GO:0042802, GO:0005515, GO:0003682, GO:0003677, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, sequence-specific DNA binding, identical protein binding, protein binding, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000378, GO:0071281, GO:0070172, GO:0061029, GO:0060349, GO:0060021, GO:0048856, GO:0048701, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045595, GO:0043525, GO:0043066, GO:0042472, GO:0042127, GO:0035115, GO:0030501, GO:0021623, GO:0021559, GO:0010944, GO:0010842, GO:0010628, GO:0008285, GO:0007605, GO:0006357, GO:0006357, GO:0003409, GO:0003404, GO:0001822, GO:0000122, GO:0000122, negative regulation of reactive oxygen species metabolic process, cellular response to iron ion, positive regulation of tooth mineralization, eyelid development in camera-type eye, bone morphogenesis, roof of mouth development, anatomical structure development, embryonic cranial skeleton morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of cell differentiation, positive regulation of neuron apoptotic process, negative regulation of apoptotic process, inner ear morphogenesis, regulation of cell population proliferation, embryonic forelimb morphogenesis, positive regulation of bone mineralization, oculomotor nerve formation, trigeminal nerve development, negative regulation of transcription by competitive promoter binding, retina layer formation, positive regulation of gene expression, negative regulation of cell population proliferation, sensory perception of sound, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, optic cup structural organization, optic vesicle morphogenesis, kidney development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 0 2 0 0 0 0 0 0 ENSG00000137204 chr6 43295694 43305538 + SLC22A7 protein_coding The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 10864 GO:0016323, GO:0016020, GO:0005887, GO:0005886, GO:0005886, basolateral plasma membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015347, GO:0005515, sodium-independent organic anion transmembrane transporter activity, protein binding, GO:0055085, GO:0015711, transmembrane transport, organic anion transport, 0 0 0 2 0 0 0 0 0 ENSG00000137207 chr6 43511827 43516990 - YIPF3 protein_coding 25844 GO:0043231, GO:0030133, GO:0016021, GO:0005886, GO:0005794, GO:0005794, intracellular membrane-bounded organelle, transport vesicle, integral component of membrane, plasma membrane, Golgi apparatus, Golgi apparatus, GO:0005515, protein binding, GO:0030154, cell differentiation, 1705 1781 1771 525 1110 682 625 1009 619 ENSG00000137210 chr6 10747759 10852753 + TMEM14B protein_coding 81853 GO:0031966, GO:0016021, GO:0005743, mitochondrial membrane, integral component of membrane, mitochondrial inner membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:2000045, GO:0061351, GO:0021987, GO:0006839, regulation of G1/S transition of mitotic cell cycle, neural precursor cell proliferation, cerebral cortex development, mitochondrial transport, 103 87 113 84 93 107 100 105 84 ENSG00000137216 chr6 44126914 44155519 + TMEM63B protein_coding 55362 GO:0016021, GO:0015629, GO:0005886, GO:0005886, integral component of membrane, actin cytoskeleton, plasma membrane, plasma membrane, GO:1990760, GO:0008381, GO:0005227, GO:0005227, osmolarity-sensing cation channel activity, mechanosensitive ion channel activity, calcium activated cation channel activity, calcium activated cation channel activity, GO:0098655, cation transmembrane transport, 95 109 152 99 116 137 120 90 119 ENSG00000137218 chr6 41770176 41786542 - FRS3 protein_coding This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013]. 10817 GO:0005886, plasma membrane, GO:0042802, GO:0005515, GO:0005104, identical protein binding, protein binding, fibroblast growth factor receptor binding, GO:0008543, GO:0007165, GO:0000165, fibroblast growth factor receptor signaling pathway, signal transduction, MAPK cascade, 2 5 6 5 13 24 20 15 18 ENSG00000137221 chr6 43477523 43506556 + TJAP1 protein_coding This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]. 93643 GO:0005923, GO:0005886, GO:0005802, GO:0005794, GO:0005768, bicellular tight junction, plasma membrane, trans-Golgi network, Golgi apparatus, endosome, GO:0005515, protein binding, GO:0007030, Golgi organization, 253 253 614 232 228 245 197 162 196 ENSG00000137225 chr6 44158811 44184402 + CAPN11 protein_coding Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]. 11131 GO:0005737, GO:0001669, cytoplasm, acrosomal vesicle, GO:0008233, GO:0005509, GO:0004198, peptidase activity, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000137251 chr6 54307859 54390152 + TINAG protein_coding This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011]. 27283 GO:0005764, GO:0005615, GO:0005604, lysosome, extracellular space, basement membrane, GO:0004197, GO:0000166, cysteine-type endopeptidase activity, nucleotide binding, GO:0007155, GO:0006508, cell adhesion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000137252 chr6 55106460 55282620 + HCRTR2 protein_coding The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009]. 3062 GO:0045202, GO:0005887, GO:0005887, GO:0005886, synapse, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0017046, GO:0016499, GO:0016499, GO:0008188, GO:0005515, GO:0004930, peptide hormone binding, orexin receptor activity, orexin receptor activity, neuropeptide receptor activity, protein binding, G protein-coupled receptor activity, GO:0051480, GO:0022410, GO:0010840, GO:0007631, GO:0007268, GO:0007218, GO:0007218, GO:0007200, GO:0007186, GO:0007186, regulation of cytosolic calcium ion concentration, circadian sleep/wake cycle process, regulation of circadian sleep/wake cycle, wakefulness, feeding behavior, chemical synaptic transmission, neuropeptide signaling pathway, neuropeptide signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000137261 chr6 24544104 24646155 - KIAA0319 protein_coding This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 9856 GO:0043231, GO:0031901, GO:0031410, GO:0030665, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005769, intracellular membrane-bounded organelle, early endosome membrane, cytoplasmic vesicle, clathrin-coated vesicle membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, early endosome, GO:0005515, protein binding, GO:2000171, GO:2000171, GO:0061024, GO:0060391, GO:0060391, GO:0048692, GO:0033555, GO:0030517, GO:0010996, GO:0001764, GO:0001764, negative regulation of dendrite development, negative regulation of dendrite development, membrane organization, positive regulation of SMAD protein signal transduction, positive regulation of SMAD protein signal transduction, negative regulation of axon extension involved in regeneration, multicellular organismal response to stress, negative regulation of axon extension, response to auditory stimulus, neuron migration, neuron migration, 240 117 112 187 158 132 175 108 110 ENSG00000137265 chr6 391739 411447 + IRF4 protein_coding The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]. 3662 GO:0016020, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000786, GO:0000785, membrane, cytosol, cytosol, nucleoplasm, nucleus, nucleus, nucleosome, chromatin, GO:1990837, GO:0043565, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0120162, GO:0072540, GO:0060337, GO:0060333, GO:0045944, GO:0045893, GO:0045622, GO:0043967, GO:0043966, GO:0043388, GO:0043011, GO:0042832, GO:0042110, GO:0034122, GO:0032753, GO:0032743, GO:0032736, GO:0032733, GO:0019221, GO:0006357, GO:0002376, positive regulation of cold-induced thermogenesis, T-helper 17 cell lineage commitment, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of T-helper cell differentiation, histone H4 acetylation, histone H3 acetylation, positive regulation of DNA binding, myeloid dendritic cell differentiation, defense response to protozoan, T cell activation, negative regulation of toll-like receptor signaling pathway, positive regulation of interleukin-4 production, positive regulation of interleukin-2 production, positive regulation of interleukin-13 production, positive regulation of interleukin-10 production, cytokine-mediated signaling pathway, regulation of transcription by RNA polymerase II, immune system process, 27 31 83 102 34 83 83 43 36 ENSG00000137266 chr6 3268962 3457022 - SLC22A23 protein_coding SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]. 63027 GO:0016021, integral component of membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, GO:0006811, transmembrane transport, ion transport, 12 7 7 20 11 23 22 13 10 ENSG00000137267 chr6 3153669 3157526 - TUBB2A protein_coding Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. 7280 GO:1903561, GO:0070062, GO:0005874, GO:0005874, GO:0005737, GO:0005634, extracellular vesicle, extracellular exosome, microtubule, microtubule, cytoplasm, nucleus, GO:0005525, GO:0005515, GO:0005200, GO:0003924, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, GO:0001764, GO:0000278, GO:0000226, neuron migration, mitotic cell cycle, microtubule cytoskeleton organization, 7 0 9 14 7 42 10 11 28 ENSG00000137269 chr6 53794497 53924121 + LRRC1 protein_coding 55227 GO:0016020, GO:0005829, membrane, cytosol, 1 2 1 2 4 9 4 3 1 ENSG00000137270 chr6 53126964 53148829 - GCM1 protein_coding This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]. 8521 GO:0005667, GO:0005634, GO:0005634, GO:0000785, transcription regulator complex, nucleus, nucleus, chromatin, GO:1990837, GO:0042826, GO:0008270, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, histone deacetylase binding, zinc ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060800, GO:0060706, GO:0060670, GO:0060143, GO:0060018, GO:0045944, GO:0045893, GO:0042063, GO:0009653, GO:0006366, GO:0006357, GO:0006355, regulation of cell differentiation involved in embryonic placenta development, cell differentiation involved in embryonic placenta development, branching involved in labyrinthine layer morphogenesis, positive regulation of syncytium formation by plasma membrane fusion, astrocyte fate commitment, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, gliogenesis, anatomical structure morphogenesis, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 30 41 29 46 47 23 33 42 42 ENSG00000137273 chr6 1389576 1395603 + FOXF2 protein_coding FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]. 2295 GO:0005667, GO:0005634, GO:0005634, GO:0005634, GO:0000785, transcription regulator complex, nucleus, nucleus, nucleus, chromatin, GO:0043565, GO:0008134, GO:0003700, GO:0003677, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific DNA binding, transcription factor binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1902914, GO:0060021, GO:0048806, GO:0048596, GO:0048566, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0042249, GO:0032434, GO:0030198, GO:0009887, GO:0006357, GO:0001837, regulation of protein polyubiquitination, roof of mouth development, genitalia development, embryonic camera-type eye morphogenesis, embryonic digestive tract development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, establishment of planar polarity of embryonic epithelium, regulation of proteasomal ubiquitin-dependent protein catabolic process, extracellular matrix organization, animal organ morphogenesis, regulation of transcription by RNA polymerase II, epithelial to mesenchymal transition, 0 0 0 0 0 0 0 0 0 ENSG00000137274 chr6 3118374 3153578 + BPHL protein_coding This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]. 670 GO:0005741, GO:0005739, mitochondrial outer membrane, mitochondrion, GO:0047658, alpha-amino-acid esterase activity, GO:0009636, GO:0006805, GO:0006520, response to toxic substance, xenobiotic metabolic process, cellular amino acid metabolic process, 5 3 3 3 1 17 16 3 18 ENSG00000137275 chr6 3063991 3115187 + RIPK1 protein_coding This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene in mice results in death shortly after birth. [provided by RefSeq, Aug 2017]. 8737 GO:0097342, GO:0045121, GO:0043235, GO:0032991, GO:0031264, GO:0010008, GO:0005829, GO:0005829, GO:0005739, ripoptosome, membrane raft, receptor complex, protein-containing complex, death-inducing signaling complex, endosome membrane, cytosol, cytosol, mitochondrion, GO:0106311, GO:0106310, GO:0070513, GO:0044877, GO:0042803, GO:0042802, GO:0031625, GO:0005524, GO:0005515, GO:0005123, GO:0004706, GO:0004674, GO:0004674, GO:0004672, GO:0004672, GO:0004672, protein threonine kinase activity, protein serine kinase activity, death domain binding, protein-containing complex binding, protein homodimerization activity, identical protein binding, ubiquitin protein ligase binding, ATP binding, protein binding, death receptor binding, JUN kinase kinase kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, protein kinase activity, GO:2001240, GO:2001238, GO:2001237, GO:2000379, GO:2000134, GO:1990000, GO:1905206, GO:1903800, GO:1903265, GO:1902042, GO:1902041, GO:1901026, GO:0097527, GO:0097527, GO:0097343, GO:0097300, GO:0097191, GO:0097191, GO:0097190, GO:0071550, GO:0071363, GO:0071356, GO:0070926, GO:0070301, GO:0070266, GO:0070266, GO:0070266, GO:0070231, GO:0070105, GO:0060546, GO:0060545, GO:0060044, GO:0051092, GO:0050729, GO:0046777, GO:0046777, GO:0046330, GO:0045944, GO:0045651, GO:0044257, GO:0043124, GO:0043123, GO:0043123, GO:0043068, GO:0043066, GO:0043065, GO:0043065, GO:0036289, GO:0036289, GO:0035666, GO:0034612, GO:0034138, GO:0033209, GO:0033209, GO:0032760, GO:0032757, GO:0016579, GO:0016032, GO:0010940, GO:0010803, GO:0008219, GO:0007257, GO:0007257, GO:0007256, GO:0007249, GO:0006954, GO:0006919, GO:0006915, GO:0002756, GO:0001934, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of extrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of reactive oxygen species metabolic process, negative regulation of G1/S transition of mitotic cell cycle, amyloid fibril formation, positive regulation of hydrogen peroxide-induced cell death, positive regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, ripoptosome assembly involved in necroptotic process, necroptotic signaling pathway, necroptotic signaling pathway, ripoptosome assembly, programmed necrotic cell death, extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, death-inducing signaling complex assembly, cellular response to growth factor stimulus, cellular response to tumor necrosis factor, regulation of ATP:ADP antiporter activity, cellular response to hydrogen peroxide, necroptotic process, necroptotic process, necroptotic process, T cell apoptotic process, positive regulation of interleukin-6-mediated signaling pathway, negative regulation of necroptotic process, positive regulation of necroptotic process, negative regulation of cardiac muscle cell proliferation, positive regulation of NF-kappaB transcription factor activity, positive regulation of inflammatory response, protein autophosphorylation, protein autophosphorylation, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of macrophage differentiation, cellular protein catabolic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of programmed cell death, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, peptidyl-serine autophosphorylation, peptidyl-serine autophosphorylation, TRIF-dependent toll-like receptor signaling pathway, response to tumor necrosis factor, toll-like receptor 3 signaling pathway, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, protein deubiquitination, viral process, positive regulation of necrotic cell death, regulation of tumor necrosis factor-mediated signaling pathway, cell death, activation of JUN kinase activity, activation of JUN kinase activity, activation of JNKK activity, I-kappaB kinase/NF-kappaB signaling, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, MyD88-independent toll-like receptor signaling pathway, positive regulation of protein phosphorylation, 786 760 955 635 835 634 598 510 488 ENSG00000137285 chr6 3224261 3231730 - TUBB2B protein_coding The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]. 347733 GO:0098685, GO:0015630, GO:0005874, GO:0005874, GO:0005737, GO:0005634, Schaffer collateral - CA1 synapse, microtubule cytoskeleton, microtubule, microtubule, cytoplasm, nucleus, GO:0046982, GO:0005525, GO:0005515, GO:0005200, GO:0003924, protein heterodimerization activity, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, GO:1902669, GO:0050804, GO:0007017, GO:0001764, GO:0001764, GO:0000278, GO:0000226, positive regulation of axon guidance, modulation of chemical synaptic transmission, microtubule-based process, neuron migration, neuron migration, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 2 0 ENSG00000137288 chr6 33694293 33711727 - UQCC2 protein_coding This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]. 84300 GO:0042645, GO:0016604, GO:0005759, GO:0005758, GO:0005743, GO:0005739, mitochondrial nucleoid, nuclear body, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:2001014, GO:1903364, GO:0070131, GO:0050796, GO:0034551, GO:0002082, regulation of skeletal muscle cell differentiation, positive regulation of cellular protein catabolic process, positive regulation of mitochondrial translation, regulation of insulin secretion, mitochondrial respiratory chain complex III assembly, regulation of oxidative phosphorylation, 24 23 40 91 21 57 46 21 27 ENSG00000137309 chr6 34236873 34246231 + HMGA1 protein_coding This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]. 3159 GO:0090575, GO:0035985, GO:0005925, GO:0005829, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0005634, RNA polymerase II transcription regulator complex, senescence-associated heterochromatin focus, focal adhesion, cytosol, transcription regulator complex, nucleoplasm, nucleus, nucleus, nucleus, GO:0046965, GO:0042975, GO:0042974, GO:0030527, GO:0030374, GO:0019899, GO:0008134, GO:0005515, GO:0003713, GO:0003712, GO:0003682, GO:0003680, GO:0003680, GO:0003680, GO:0003677, GO:0000987, retinoid X receptor binding, peroxisome proliferator activated receptor binding, retinoic acid receptor binding, structural constituent of chromatin, nuclear receptor coactivator activity, enzyme binding, transcription factor binding, protein binding, transcription coactivator activity, transcription coregulator activity, chromatin binding, minor groove of adenine-thymine-rich DNA binding, minor groove of adenine-thymine-rich DNA binding, minor groove of adenine-thymine-rich DNA binding, DNA binding, cis-regulatory region sequence-specific DNA binding, GO:2000774, GO:0090402, GO:0075713, GO:0051169, GO:0045944, GO:0045893, GO:0045892, GO:0035986, GO:0031936, GO:0009615, GO:0008285, GO:0006355, GO:0006337, GO:0006268, positive regulation of cellular senescence, oncogene-induced cell senescence, establishment of integrated proviral latency, nuclear transport, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, senescence-associated heterochromatin focus assembly, negative regulation of chromatin silencing, response to virus, negative regulation of cell population proliferation, regulation of transcription, DNA-templated, nucleosome disassembly, DNA unwinding involved in DNA replication, 246 288 907 703 432 1351 873 492 1338 ENSG00000137310 chr6 31158542 31167159 + TCF19 protein_coding This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 6941 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003700, metal ion binding, protein binding, DNA-binding transcription factor activity, GO:0010468, GO:0006355, regulation of gene expression, regulation of transcription, DNA-templated, 1 0 6 5 0 0 3 0 0 ENSG00000137312 chr6 30727709 30742733 - FLOT1 protein_coding This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 10211 GO:0098691, GO:0098691, GO:0070062, GO:0045121, GO:0044291, GO:0042470, GO:0042383, GO:0034451, GO:0031410, GO:0031410, GO:0030864, GO:0030027, GO:0016600, GO:0016600, GO:0016324, GO:0016323, GO:0016020, GO:0009897, GO:0008180, GO:0005925, GO:0005912, GO:0005911, GO:0005901, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005815, GO:0005769, GO:0005768, GO:0005765, GO:0001931, dopaminergic synapse, dopaminergic synapse, extracellular exosome, membrane raft, cell-cell contact zone, melanosome, sarcolemma, centriolar satellite, cytoplasmic vesicle, cytoplasmic vesicle, cortical actin cytoskeleton, lamellipodium, flotillin complex, flotillin complex, apical plasma membrane, basolateral plasma membrane, membrane, external side of plasma membrane, COP9 signalosome, focal adhesion, adherens junction, cell-cell junction, caveola, plasma membrane, plasma membrane, plasma membrane, plasma membrane, microtubule organizing center, early endosome, endosome, lysosomal membrane, uropod, GO:0005515, GO:0002020, protein binding, protease binding, GO:2000049, GO:2000049, GO:1903044, GO:1901890, GO:1901890, GO:1901741, GO:0072659, GO:0072659, GO:0071360, GO:0070528, GO:0070528, GO:0060355, GO:0051580, GO:0051580, GO:0051092, GO:0050821, GO:0048643, GO:0045807, GO:0045807, GO:0044854, GO:0035023, GO:0034976, GO:0034143, GO:0034141, GO:0034116, GO:0033227, GO:0032728, GO:0032226, GO:0032092, GO:0022617, GO:0007409, GO:0002090, GO:0002090, GO:0001934, GO:0001819, GO:0001765, positive regulation of cell-cell adhesion mediated by cadherin, positive regulation of cell-cell adhesion mediated by cadherin, protein localization to membrane raft, positive regulation of cell junction assembly, positive regulation of cell junction assembly, positive regulation of myoblast fusion, protein localization to plasma membrane, protein localization to plasma membrane, cellular response to exogenous dsRNA, protein kinase C signaling, protein kinase C signaling, positive regulation of cell adhesion molecule production, regulation of neurotransmitter uptake, regulation of neurotransmitter uptake, positive regulation of NF-kappaB transcription factor activity, protein stabilization, positive regulation of skeletal muscle tissue development, positive regulation of endocytosis, positive regulation of endocytosis, plasma membrane raft assembly, regulation of Rho protein signal transduction, response to endoplasmic reticulum stress, regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 3 signaling pathway, positive regulation of heterotypic cell-cell adhesion, dsRNA transport, positive regulation of interferon-beta production, positive regulation of synaptic transmission, dopaminergic, positive regulation of protein binding, extracellular matrix disassembly, axonogenesis, regulation of receptor internalization, regulation of receptor internalization, positive regulation of protein phosphorylation, positive regulation of cytokine production, membrane raft assembly, 0 0 0 1 0 0 0 0 0 ENSG00000137331 chr6 30743199 30744554 - IER3 protein_coding This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008]. 8870 GO:0016021, GO:0005829, GO:0005634, GO:0005634, integral component of membrane, cytosol, nucleus, nucleus, GO:0005515, protein binding, GO:2001020, GO:2001020, GO:0043066, GO:0014066, GO:0009653, GO:0006915, regulation of response to DNA damage stimulus, regulation of response to DNA damage stimulus, negative regulation of apoptotic process, regulation of phosphatidylinositol 3-kinase signaling, anatomical structure morphogenesis, apoptotic process, 10 5 30 5 1 16 14 7 20 ENSG00000137337 chr6 30699807 30717889 - MDC1 protein_coding The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]. 9656 GO:0016604, GO:0005925, GO:0005694, GO:0005654, GO:0005654, GO:0005634, nuclear body, focal adhesion, chromosome, nucleoplasm, nucleoplasm, nucleus, GO:0070975, GO:0042802, GO:0008022, GO:0005515, FHA domain binding, identical protein binding, protein C-terminus binding, protein binding, GO:0031573, GO:0006303, intra-S DNA damage checkpoint, double-strand break repair via nonhomologous end joining, 0 0 1 2 3 1 2 0 0 ENSG00000137338 chr6 28281572 28302549 + PGBD1 protein_coding The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]. 84547 GO:0016020, GO:0000785, membrane, chromatin, GO:0042802, GO:0005515, GO:0005044, GO:0000981, GO:0000978, identical protein binding, protein binding, scavenger receptor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006897, GO:0006357, endocytosis, regulation of transcription by RNA polymerase II, 4 7 3 5 1 4 6 3 2 ENSG00000137343 chr6 30626842 30646823 + ATAT1 protein_coding This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 79969 GO:0097427, GO:0072686, GO:0030424, GO:0005925, GO:0005905, GO:0005874, GO:0005829, GO:0005829, GO:0005794, microtubule bundle, mitotic spindle, axon, focal adhesion, clathrin-coated pit, microtubule, cytosol, cytosol, Golgi apparatus, GO:0019799, GO:0019799, GO:0019799, GO:0004468, GO:0004468, tubulin N-acetyltransferase activity, tubulin N-acetyltransferase activity, tubulin N-acetyltransferase activity, lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, GO:1900227, GO:0071929, GO:0071929, GO:0070507, GO:0060271, GO:0048666, GO:0045598, GO:0021542, GO:0007283, positive regulation of NLRP3 inflammasome complex assembly, alpha-tubulin acetylation, alpha-tubulin acetylation, regulation of microtubule cytoskeleton organization, cilium assembly, neuron development, regulation of fat cell differentiation, dentate gyrus development, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000137364 chr6 18128311 18155074 - TPMT protein_coding This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014]. 7172 GO:0005829, cytosol, GO:1904047, GO:0008119, GO:0008119, GO:0008119, GO:0005515, S-adenosyl-L-methionine binding, thiopurine S-methyltransferase activity, thiopurine S-methyltransferase activity, thiopurine S-methyltransferase activity, protein binding, GO:0032259, GO:0017144, GO:0006139, methylation, drug metabolic process, nucleobase-containing compound metabolic process, 126 83 178 88 66 84 67 51 67 ENSG00000137392 chr6 35794982 35797344 - CLPS protein_coding The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 1208 GO:0005576, extracellular region, GO:0008047, enzyme activator activity, GO:0044241, GO:0043085, GO:0032094, GO:0016042, GO:0009617, GO:0006629, GO:0001523, lipid digestion, positive regulation of catalytic activity, response to food, lipid catabolic process, response to bacterium, lipid metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000137393 chr6 18387350 18468874 + RNF144B protein_coding 255488 GO:0031966, GO:0031966, GO:0016021, GO:0005829, GO:0005737, GO:0005737, GO:0000151, GO:0000151, mitochondrial membrane, mitochondrial membrane, integral component of membrane, cytosol, cytoplasm, cytoplasm, ubiquitin ligase complex, ubiquitin ligase complex, GO:0061630, GO:0046872, GO:0031624, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, ubiquitin conjugating enzyme binding, protein binding, ubiquitin-protein transferase activity, GO:0043066, GO:0032436, GO:0006915, GO:0006511, GO:0006511, GO:0000209, GO:0000209, negative regulation of apoptotic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, apoptotic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, protein polyubiquitination, 353 740 1708 379 1118 754 369 809 542 ENSG00000137404 chr6 30688047 30691420 - NRM protein_coding The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 11270 GO:0031965, GO:0031965, GO:0016021, GO:0016020, GO:0005637, GO:0005635, nuclear membrane, nuclear membrane, integral component of membrane, membrane, nuclear inner membrane, nuclear envelope, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 1 0 0 0 ENSG00000137409 chr6 36968141 36986298 - MTCH1 protein_coding This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]. 23787 GO:0016021, GO:0016020, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0045161, GO:0043065, GO:0043065, GO:0009966, GO:0006919, GO:0006915, neuronal ion channel clustering, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 1808 1892 2298 2319 2898 2941 2461 2145 2319 ENSG00000137411 chr6 30908242 30926459 + VARS2 protein_coding This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]. 57176 GO:0005829, GO:0005739, cytosol, mitochondrion, GO:0005524, GO:0005515, GO:0004832, GO:0002161, ATP binding, protein binding, valine-tRNA ligase activity, aminoacyl-tRNA editing activity, GO:0106074, GO:0006438, aminoacyl-tRNA metabolism involved in translational fidelity, valyl-tRNA aminoacylation, 0 0 0 0 0 0 0 0 0 ENSG00000137413 chr6 42050513 42087461 + TAF8 protein_coding This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 129685 GO:0048471, GO:0005669, GO:0005669, GO:0005654, GO:0005654, GO:0005634, perinuclear region of cytoplasm, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, GO:0046982, GO:0016251, GO:0005515, protein heterodimerization activity, RNA polymerase II general transcription initiation factor activity, protein binding, GO:0051457, GO:0045598, GO:0042795, GO:0030154, GO:0006367, GO:0001833, GO:0001112, maintenance of protein location in nucleus, regulation of fat cell differentiation, snRNA transcription by RNA polymerase II, cell differentiation, transcription initiation from RNA polymerase II promoter, inner cell mass cell proliferation, DNA-templated transcription open complex formation, 127 183 145 117 183 163 119 169 130 ENSG00000137414 chr6 17600355 17611719 + FAM8A1 protein_coding 51439 GO:0016021, GO:0000839, integral component of membrane, Hrd1p ubiquitin ligase ERAD-L complex, GO:0005515, protein binding, 4645 5034 6554 747 2073 1684 1148 1998 1743 ENSG00000137434 chr6 10671418 10694797 - C6orf52 protein_coding 347744 2 0 0 0 0 5 0 0 0 ENSG00000137440 chr4 15935569 15938740 - FGFBP1 protein_coding This gene encodes a secreted fibroblast growth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and migration by binding to fibroblast growth factors and potentiating their biological effects on target cells. The encoded protein may also play a role in tumor growth as an angiogenic switch molecule, and expression of this gene has been associated with several types of cancer including pancreatic and colorectal adenocarcinoma. A pseudogene of this gene is also located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]. 9982 GO:0009986, GO:0005886, GO:0005615, GO:0005576, cell surface, plasma membrane, extracellular space, extracellular region, GO:0019838, GO:0017134, GO:0008201, GO:0005515, growth factor binding, fibroblast growth factor binding, heparin binding, protein binding, GO:1903589, GO:0090050, GO:0045743, GO:0008543, GO:0008285, GO:0007267, GO:0007165, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, negative regulation of cell population proliferation, cell-cell signaling, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000137441 chr4 15960243 15969309 - FGFBP2 protein_coding This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq Staff, Oct 2008]. 83888 GO:0005615, extracellular space, GO:0019838, GO:0005515, growth factor binding, protein binding, GO:0007267, cell-cell signaling, 18 28 77 78 75 165 61 99 103 ENSG00000137449 chr4 15002674 15070153 + CPEB2 protein_coding The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 132864 GO:1990124, GO:1990124, GO:0045202, GO:0043005, GO:0005737, GO:0005737, GO:0005634, GO:0005634, messenger ribonucleoprotein complex, messenger ribonucleoprotein complex, synapse, neuron projection, cytoplasm, cytoplasm, nucleus, nucleus, GO:0043024, GO:0043023, GO:0043022, GO:0043022, GO:0035925, GO:0008135, GO:0005095, GO:0003730, GO:0003723, GO:0000900, GO:0000900, ribosomal small subunit binding, ribosomal large subunit binding, ribosome binding, ribosome binding, mRNA 3'-UTR AU-rich region binding, translation factor activity, RNA binding, GTPase inhibitor activity, mRNA 3'-UTR binding, RNA binding, translation repressor activity, mRNA regulatory element binding, translation repressor activity, mRNA regulatory element binding, GO:2000766, GO:2000766, GO:1900248, GO:0071456, GO:0071243, GO:0034599, GO:0034260, GO:0032869, GO:0006412, negative regulation of cytoplasmic translation, negative regulation of cytoplasmic translation, negative regulation of cytoplasmic translational elongation, cellular response to hypoxia, cellular response to arsenic-containing substance, cellular response to oxidative stress, negative regulation of GTPase activity, cellular response to insulin stimulus, translation, 1518 1895 1836 1051 1857 1762 1339 1408 1668 ENSG00000137460 chr4 152936352 152979696 + FHDC1 protein_coding 85462 GO:0005929, GO:0005881, GO:0005874, GO:0005794, cilium, cytoplasmic microtubule, microtubule, Golgi apparatus, GO:0008017, GO:0003779, microtubule binding, actin binding, GO:0090161, GO:0060271, GO:0043149, Golgi ribbon formation, cilium assembly, stress fiber assembly, 81 77 118 69 164 230 95 102 148 ENSG00000137462 chr4 153684070 153705702 + TLR2 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 7097 GO:0045121, GO:0044297, GO:0042995, GO:0035354, GO:0031226, GO:0030670, GO:0030667, GO:0009986, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005737, membrane raft, cell body, cell projection, Toll-like receptor 1-Toll-like receptor 2 protein complex, intrinsic component of plasma membrane, phagocytic vesicle membrane, secretory granule membrane, cell surface, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, cytoplasm, GO:0061809, GO:0050135, GO:0044877, GO:0042834, GO:0042802, GO:0042497, GO:0042497, GO:0038187, GO:0038023, GO:0035325, GO:0005515, GO:0004888, GO:0001875, GO:0001540, GO:0001540, GO:0001530, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, protein-containing complex binding, peptidoglycan binding, identical protein binding, triacyl lipopeptide binding, triacyl lipopeptide binding, pattern recognition receptor activity, signaling receptor activity, Toll-like receptor binding, protein binding, transmembrane signaling receptor activity, lipopolysaccharide immune receptor activity, amyloid-beta binding, amyloid-beta binding, lipopolysaccharide binding, GO:1904466, GO:1903974, GO:1901224, GO:0071727, GO:0071726, GO:0071346, GO:0071223, GO:0071223, GO:0071221, GO:0070542, GO:0051964, GO:0051770, GO:0051092, GO:0050830, GO:0050765, GO:0050729, GO:0050729, GO:0048714, GO:0046209, GO:0045944, GO:0045087, GO:0043312, GO:0042496, GO:0042495, GO:0038124, GO:0038123, GO:0034134, GO:0034123, GO:0032868, GO:0032760, GO:0032757, GO:0032757, GO:0032755, GO:0032755, GO:0032741, GO:0032735, GO:0032733, GO:0032728, GO:0032722, GO:0032640, GO:0032613, GO:0032570, GO:0032289, GO:0031663, GO:0030177, GO:0014005, GO:0010628, GO:0009636, GO:0008285, GO:0007612, GO:0007252, GO:0007165, GO:0006955, GO:0006954, GO:0006915, GO:0006691, GO:0002755, GO:0002367, GO:0002224, GO:0002224, GO:0001817, GO:0001775, GO:0001774, GO:0001666, positive regulation of matrix metallopeptidase secretion, positive regulation of cellular response to macrophage colony-stimulating factor stimulus, positive regulation of NIK/NF-kappaB signaling, cellular response to triacyl bacterial lipopeptide, cellular response to diacyl bacterial lipopeptide, cellular response to interferon-gamma, cellular response to lipoteichoic acid, cellular response to lipoteichoic acid, cellular response to bacterial lipopeptide, response to fatty acid, negative regulation of synapse assembly, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of NF-kappaB transcription factor activity, defense response to Gram-positive bacterium, negative regulation of phagocytosis, positive regulation of inflammatory response, positive regulation of inflammatory response, positive regulation of oligodendrocyte differentiation, nitric oxide metabolic process, positive regulation of transcription by RNA polymerase II, innate immune response, neutrophil degranulation, detection of diacyl bacterial lipopeptide, detection of triacyl bacterial lipopeptide, toll-like receptor TLR6:TLR2 signaling pathway, toll-like receptor TLR1:TLR2 signaling pathway, toll-like receptor 2 signaling pathway, positive regulation of toll-like receptor signaling pathway, response to insulin, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interleukin-18 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interferon-beta production, positive regulation of chemokine production, tumor necrosis factor production, interleukin-10 production, response to progesterone, central nervous system myelin formation, lipopolysaccharide-mediated signaling pathway, positive regulation of Wnt signaling pathway, microglia development, positive regulation of gene expression, response to toxic substance, negative regulation of cell population proliferation, learning, I-kappaB phosphorylation, signal transduction, immune response, inflammatory response, apoptotic process, leukotriene metabolic process, MyD88-dependent toll-like receptor signaling pathway, cytokine production involved in immune response, toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of cytokine production, cell activation, microglial cell activation, response to hypoxia, 12799 15666 30075 2864 6798 7869 4232 4947 7335 ENSG00000137463 chr4 139266163 139280338 - MGARP protein_coding 84709 GO:1904115, GO:0031307, GO:0031307, GO:0005739, axon cytoplasm, integral component of mitochondrial outer membrane, integral component of mitochondrial outer membrane, mitochondrion, GO:0005515, protein binding, GO:0097211, GO:0071456, GO:0071383, GO:0019896, GO:0010822, GO:0008090, GO:0008089, GO:0006626, cellular response to gonadotropin-releasing hormone, cellular response to hypoxia, cellular response to steroid hormone stimulus, axonal transport of mitochondrion, positive regulation of mitochondrion organization, retrograde axonal transport, anterograde axonal transport, protein targeting to mitochondrion, 0 1 2 0 0 0 1 0 0 ENSG00000137473 chr4 146706638 146945882 - TTC29 protein_coding 83894 GO:0036126, GO:0036126, GO:0005856, GO:0005737, sperm flagellum, sperm flagellum, cytoskeleton, cytoplasm, GO:0044782, GO:0003341, GO:0003341, cilium organization, cilium movement, cilium movement, 0 0 0 0 0 0 0 0 0 ENSG00000137474 chr11 77128264 77215241 + MYO7A protein_coding This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 4647 GO:1990435, GO:0120044, GO:0045202, GO:0042470, GO:0032420, GO:0032391, GO:0031982, GO:0031477, GO:0016324, GO:0015629, GO:0005938, GO:0005902, GO:0005829, GO:0005765, GO:0005737, GO:0005737, GO:0001917, GO:0001750, upper tip-link density, stereocilium base, synapse, melanosome, stereocilium, photoreceptor connecting cilium, vesicle, myosin VII complex, apical plasma membrane, actin cytoskeleton, cell cortex, microvillus, cytosol, lysosomal membrane, cytoplasm, cytoplasm, photoreceptor inner segment, photoreceptor outer segment, GO:0051015, GO:0051015, GO:0047485, GO:0043531, GO:0042802, GO:0030898, GO:0030507, GO:0019904, GO:0005524, GO:0005516, GO:0005515, GO:0000146, GO:0000146, actin filament binding, actin filament binding, protein N-terminus binding, ADP binding, identical protein binding, actin-dependent ATPase activity, spectrin binding, protein domain specific binding, ATP binding, calmodulin binding, protein binding, microfilament motor activity, microfilament motor activity, GO:0060088, GO:0051904, GO:0050957, GO:0050953, GO:0048563, GO:0042490, GO:0042462, GO:0034613, GO:0030050, GO:0030048, GO:0007605, GO:0007605, GO:0007601, GO:0007423, GO:0007040, GO:0007015, GO:0006886, GO:0001845, auditory receptor cell stereocilium organization, pigment granule transport, equilibrioception, sensory perception of light stimulus, post-embryonic animal organ morphogenesis, mechanoreceptor differentiation, eye photoreceptor cell development, cellular protein localization, vesicle transport along actin filament, actin filament-based movement, sensory perception of sound, sensory perception of sound, visual perception, sensory organ development, lysosome organization, actin filament organization, intracellular protein transport, phagolysosome assembly, 0 2 1 1 2 9 3 0 8 ENSG00000137478 chr11 72836745 73142261 - FCHSD2 protein_coding 9873 GO:0120043, GO:0055037, GO:0031594, GO:0005905, GO:0005886, stereocilium shaft, recycling endosome, neuromuscular junction, clathrin-coated pit, plasma membrane, GO:0043325, GO:0005547, GO:0005515, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, GO:2000601, GO:0072583, GO:0044803, GO:0030838, GO:0030833, GO:0015031, GO:0007274, positive regulation of Arp2/3 complex-mediated actin nucleation, clathrin-dependent endocytosis, multi-organism membrane organization, positive regulation of actin filament polymerization, regulation of actin filament polymerization, protein transport, neuromuscular synaptic transmission, 1763 1741 1719 1518 1960 1705 1821 1503 1470 ENSG00000137486 chr11 75264182 75351705 - ARRB1 protein_coding Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]. 408 GO:0045211, GO:0043197, GO:0031410, GO:0031410, GO:0031143, GO:0030659, GO:0016604, GO:0016323, GO:0014069, GO:0005905, GO:0005886, GO:0005829, GO:0005829, GO:0005768, GO:0005765, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000139, postsynaptic membrane, dendritic spine, cytoplasmic vesicle, cytoplasmic vesicle, pseudopodium, cytoplasmic vesicle membrane, nuclear body, basolateral plasma membrane, postsynaptic density, clathrin-coated pit, plasma membrane, cytosol, cytosol, endosome, lysosomal membrane, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, Golgi membrane, GO:1990763, GO:0045309, GO:0044325, GO:0043027, GO:0035615, GO:0035612, GO:0031896, GO:0031762, GO:0031701, GO:0031692, GO:0031691, GO:0031625, GO:0031434, GO:0030331, GO:0008134, GO:0005515, GO:0005159, GO:0005096, GO:0004857, GO:0004402, GO:0003713, GO:0001664, arrestin family protein binding, protein phosphorylated amino acid binding, ion channel binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, clathrin adaptor activity, AP-2 adaptor complex binding, V2 vasopressin receptor binding, follicle-stimulating hormone receptor binding, angiotensin receptor binding, alpha-1B adrenergic receptor binding, alpha-1A adrenergic receptor binding, ubiquitin protein ligase binding, mitogen-activated protein kinase kinase binding, estrogen receptor binding, transcription factor binding, protein binding, insulin-like growth factor receptor binding, GTPase activator activity, enzyme inhibitor activity, histone acetyltransferase activity, transcription coactivator activity, G protein-coupled receptor binding, GO:0090240, GO:0070374, GO:0070374, GO:0070373, GO:0061024, GO:0045944, GO:0045746, GO:0045746, GO:0043547, GO:0043524, GO:0043280, GO:0043161, GO:0043154, GO:0043149, GO:0042699, GO:0042493, GO:0035774, GO:0035066, GO:0035025, GO:0034393, GO:0034260, GO:0033138, GO:0032717, GO:0032715, GO:0032092, GO:0032088, GO:0031398, GO:0031397, GO:0030168, GO:0016573, GO:0016567, GO:0015031, GO:0008284, GO:0007602, GO:0007186, GO:0006915, GO:0006511, GO:0006357, GO:0002092, GO:0002031, GO:0002031, GO:0001934, GO:0000187, positive regulation of histone H4 acetylation, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, membrane organization, positive regulation of transcription by RNA polymerase II, negative regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, positive regulation of GTPase activity, negative regulation of neuron apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, stress fiber assembly, follicle-stimulating hormone signaling pathway, response to drug, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of histone acetylation, positive regulation of Rho protein signal transduction, positive regulation of smooth muscle cell apoptotic process, negative regulation of GTPase activity, positive regulation of peptidyl-serine phosphorylation, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, positive regulation of protein binding, negative regulation of NF-kappaB transcription factor activity, positive regulation of protein ubiquitination, negative regulation of protein ubiquitination, platelet activation, histone acetylation, protein ubiquitination, protein transport, positive regulation of cell population proliferation, phototransduction, G protein-coupled receptor signaling pathway, apoptotic process, ubiquitin-dependent protein catabolic process, regulation of transcription by RNA polymerase II, positive regulation of receptor internalization, G protein-coupled receptor internalization, G protein-coupled receptor internalization, positive regulation of protein phosphorylation, activation of MAPK activity, 884 976 1121 586 1043 837 681 767 667 ENSG00000137491 chr11 75100563 75206549 + SLCO2B1 protein_coding This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]. 11309 GO:0016324, GO:0016324, GO:0005887, GO:0005886, GO:0005886, apical plasma membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015347, GO:0015347, GO:0015347, GO:0015125, GO:0008514, sodium-independent organic anion transmembrane transporter activity, sodium-independent organic anion transmembrane transporter activity, sodium-independent organic anion transmembrane transporter activity, bile acid transmembrane transporter activity, organic anion transmembrane transporter activity, GO:0150104, GO:0055085, GO:0055085, GO:0043252, GO:0043252, GO:0015721, GO:0015711, transport across blood-brain barrier, transmembrane transport, transmembrane transport, sodium-independent organic anion transport, sodium-independent organic anion transport, bile acid and bile salt transport, organic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000137492 chr11 76349956 76380971 - THAP12 protein_coding 5612 GO:0005634, nucleus, GO:0046983, GO:0046872, GO:0005515, GO:0003677, protein dimerization activity, metal ion binding, protein binding, DNA binding, GO:0008285, GO:0007165, negative regulation of cell population proliferation, signal transduction, 258 361 355 322 507 439 346 361 341 ENSG00000137494 chr11 83193739 83260694 + ANKRD42 protein_coding 338699 166 167 353 89 155 159 103 103 191 ENSG00000137496 chr11 71998541 72005715 + IL18BP protein_coding The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]. 10068 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0048019, GO:0042007, GO:0042007, receptor antagonist activity, interleukin-18 binding, interleukin-18 binding, GO:2000272, GO:0071345, GO:0042088, GO:0042088, GO:0035655, negative regulation of signaling receptor activity, cellular response to cytokine stimulus, T-helper 1 type immune response, T-helper 1 type immune response, interleukin-18-mediated signaling pathway, 266 471 419 463 555 540 479 501 436 ENSG00000137497 chr11 72002864 72080693 - NUMA1 protein_coding This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 4926 GO:1990023, GO:1905720, GO:0099738, GO:0097575, GO:0097431, GO:0097431, GO:0097427, GO:0072686, GO:0070062, GO:0061673, GO:0055028, GO:0043025, GO:0036449, GO:0035371, GO:0032991, GO:0032991, GO:0031616, GO:0030425, GO:0019897, GO:0016363, GO:0016328, GO:0005938, GO:0005876, GO:0005876, GO:0005829, GO:0005829, GO:0005819, GO:0005813, GO:0005813, GO:0005794, GO:0005694, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000922, GO:0000922, GO:0000139, mitotic spindle midzone, cytoplasmic microtubule bundle, cell cortex region, lateral cell cortex, mitotic spindle pole, mitotic spindle pole, microtubule bundle, mitotic spindle, extracellular exosome, mitotic spindle astral microtubule, cortical microtubule, neuronal cell body, microtubule minus-end, microtubule plus-end, protein-containing complex, protein-containing complex, spindle pole centrosome, dendrite, extrinsic component of plasma membrane, nuclear matrix, lateral plasma membrane, cell cortex, spindle microtubule, spindle microtubule, cytosol, cytosol, spindle, centrosome, centrosome, Golgi apparatus, chromosome, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, spindle pole, spindle pole, Golgi membrane, GO:0097718, GO:0070840, GO:0051011, GO:0051010, GO:0044877, GO:0035091, GO:0019904, GO:0015631, GO:0008022, GO:0008017, GO:0005515, GO:0005198, disordered domain specific binding, dynein complex binding, microtubule minus-end binding, microtubule plus-end binding, protein-containing complex binding, phosphatidylinositol binding, protein domain specific binding, tubulin binding, protein C-terminus binding, microtubule binding, protein binding, structural molecule activity, GO:1905832, GO:1905820, GO:1904778, GO:1902846, GO:1902365, GO:0090235, GO:0090161, GO:0071955, GO:0070861, GO:0060236, GO:0060236, GO:0055048, GO:0051984, GO:0051798, GO:0051321, GO:0051301, GO:0045618, GO:0034499, GO:0034067, GO:0032388, GO:0031116, GO:0031023, GO:0030953, GO:0030953, GO:0030513, GO:0007059, GO:0006997, GO:0006622, GO:0001578, GO:0000132, GO:0000132, GO:0000132, GO:0000132, positive regulation of spindle assembly, positive regulation of chromosome separation, positive regulation of protein localization to cell cortex, positive regulation of mitotic spindle elongation, positive regulation of protein localization to spindle pole body, regulation of metaphase plate congression, Golgi ribbon formation, recycling endosome to Golgi transport, regulation of protein exit from endoplasmic reticulum, regulation of mitotic spindle organization, regulation of mitotic spindle organization, anastral spindle assembly, positive regulation of chromosome segregation, positive regulation of hair follicle development, meiotic cell cycle, cell division, positive regulation of keratinocyte differentiation, late endosome to Golgi transport, protein localization to Golgi apparatus, positive regulation of intracellular transport, positive regulation of microtubule polymerization, microtubule organizing center organization, astral microtubule organization, astral microtubule organization, positive regulation of BMP signaling pathway, chromosome segregation, nucleus organization, protein targeting to lysosome, microtubule bundle formation, establishment of mitotic spindle orientation, establishment of mitotic spindle orientation, establishment of mitotic spindle orientation, establishment of mitotic spindle orientation, 1221 1671 1699 1464 1550 1663 1371 1216 1381 ENSG00000137500 chr11 83259097 83286407 - CCDC90B protein_coding 60492 GO:0031966, GO:0016021, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, 133 107 148 117 95 104 115 108 81 ENSG00000137501 chr11 85694224 85811159 - SYTL2 protein_coding The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009]. 54843 GO:0070382, GO:0070382, GO:0042470, GO:0019897, GO:0016020, GO:0005886, GO:0005886, GO:0005737, exocytic vesicle, exocytic vesicle, melanosome, extrinsic component of plasma membrane, membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042043, GO:0042043, GO:0031267, GO:0019902, GO:0005546, GO:0005515, GO:0001786, neurexin family protein binding, neurexin family protein binding, small GTPase binding, phosphatase binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, phosphatidylserine binding, GO:0072659, GO:0070257, GO:0016192, GO:0010923, GO:0006904, GO:0006887, GO:0006887, GO:0006886, protein localization to plasma membrane, positive regulation of mucus secretion, vesicle-mediated transport, negative regulation of phosphatase activity, vesicle docking involved in exocytosis, exocytosis, exocytosis, intracellular protein transport, 65 41 116 152 28 164 131 39 118 ENSG00000137502 chr11 82973133 83071923 - RAB30 protein_coding 27314 GO:0043231, GO:0031985, GO:0005802, GO:0005802, GO:0005801, GO:0005795, GO:0000139, intracellular membrane-bounded organelle, Golgi cisterna, trans-Golgi network, trans-Golgi network, cis-Golgi network, Golgi stack, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0032482, GO:0007030, Rab protein signal transduction, Golgi organization, 74 45 109 52 38 44 42 27 31 ENSG00000137504 chr11 85659708 85682908 - CREBZF protein_coding 58487 GO:0005739, GO:0005654, GO:0005634, GO:0005634, GO:0000785, mitochondrion, nucleoplasm, nucleus, nucleus, chromatin, GO:0042802, GO:0005515, GO:0003677, GO:0000981, GO:0000976, identical protein binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, GO:0051090, GO:0045892, GO:0045814, GO:0009615, GO:0006357, GO:0006357, regulation of DNA-binding transcription factor activity, negative regulation of transcription, DNA-templated, negative regulation of gene expression, epigenetic, response to virus, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 553 591 688 464 388 652 469 329 474 ENSG00000137507 chr11 76657524 76670747 - LRRC32 protein_coding This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]. 2615 GO:0031012, GO:0009986, GO:0005887, GO:0005654, GO:0005615, extracellular matrix, cell surface, integral component of plasma membrane, nucleoplasm, extracellular space, GO:0050431, GO:0050431, GO:0005515, transforming growth factor beta binding, transforming growth factor beta binding, protein binding, GO:1901398, GO:1901388, GO:0062009, GO:0046007, GO:0010628, GO:0007179, GO:0001818, regulation of transforming growth factor beta3 activation, regulation of transforming growth factor beta activation, secondary palate development, negative regulation of activated T cell proliferation, positive regulation of gene expression, transforming growth factor beta receptor signaling pathway, negative regulation of cytokine production, 2 2 6 5 2 3 13 1 5 ENSG00000137509 chr11 82823502 82970584 - PRCP protein_coding This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 5547 GO:0101003, GO:0070062, GO:0045178, GO:0043231, GO:0035577, GO:0005886, ficolin-1-rich granule membrane, extracellular exosome, basal part of cell, intracellular membrane-bounded organelle, azurophil granule membrane, plasma membrane, GO:0008239, GO:0005515, GO:0004185, dipeptidyl-peptidase activity, protein binding, serine-type carboxypeptidase activity, GO:2000377, GO:0097009, GO:0060055, GO:0043535, GO:0043312, GO:0042593, GO:0007597, GO:0006508, GO:0003085, GO:0002353, GO:0002155, regulation of reactive oxygen species metabolic process, energy homeostasis, angiogenesis involved in wound healing, regulation of blood vessel endothelial cell migration, neutrophil degranulation, glucose homeostasis, blood coagulation, intrinsic pathway, proteolysis, negative regulation of systemic arterial blood pressure, plasma kallikrein-kinin cascade, regulation of thyroid hormone mediated signaling pathway, 1305 1364 2202 298 746 498 340 635 542 ENSG00000137513 chr11 78435961 78574874 - NARS2 protein_coding This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]. 79731 GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005654, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, GO:0005524, GO:0004816, GO:0003676, ATP binding, asparagine-tRNA ligase activity, nucleic acid binding, GO:0006421, asparaginyl-tRNA aminoacylation, 10 10 25 18 4 18 23 8 29 ENSG00000137522 chr11 71928701 71997597 + RNF121 protein_coding The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008]. 55298 GO:0016021, GO:0005789, GO:0000139, integral component of membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0030968, GO:0030433, GO:0016567, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, protein ubiquitination, 43 69 59 42 60 60 66 60 55 ENSG00000137547 chr8 54135210 54147901 + MRPL15 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]. 29088 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:1990830, GO:0070126, GO:0070125, cellular response to leukemia inhibitory factor, mitochondrial translational termination, mitochondrial translational elongation, 5 8 6 23 11 10 4 7 16 ENSG00000137558 chr8 74824534 74855029 + PI15 protein_coding This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008]. 51050 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0030414, peptidase inhibitor activity, GO:0010466, GO:0008150, GO:0007275, negative regulation of peptidase activity, biological_process, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000137561 chr8 63048553 63086053 - TTPA protein_coding This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]. 7274 GO:0005829, GO:0005770, cytosol, late endosome, GO:1902936, GO:0120013, GO:0043325, GO:0008431, GO:0008431, GO:0005546, GO:0005515, phosphatidylinositol bisphosphate binding, lipid transfer activity, phosphatidylinositol-3,4-bisphosphate binding, vitamin E binding, vitamin E binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:1900223, GO:0120009, GO:0090212, GO:0060548, GO:0051452, GO:0051180, GO:0051180, GO:0042360, GO:0042360, GO:0009636, GO:0009268, GO:0007584, GO:0006629, GO:0001892, positive regulation of amyloid-beta clearance, intermembrane lipid transfer, negative regulation of establishment of blood-brain barrier, negative regulation of cell death, intracellular pH reduction, vitamin transport, vitamin transport, vitamin E metabolic process, vitamin E metabolic process, response to toxic substance, response to pH, response to nutrient, lipid metabolic process, embryonic placenta development, 0 0 0 0 0 0 0 0 0 ENSG00000137563 chr8 63015079 63039171 - GGH protein_coding This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]. 8836 GO:1904724, GO:0070062, GO:0042470, GO:0035580, GO:0035578, GO:0005829, GO:0005773, GO:0005634, GO:0005615, GO:0005576, tertiary granule lumen, extracellular exosome, melanosome, specific granule lumen, azurophil granule lumen, cytosol, vacuole, nucleus, extracellular space, extracellular region, GO:0034722, GO:0034722, GO:0008242, GO:0008238, GO:0005515, gamma-glutamyl-peptidase activity, gamma-glutamyl-peptidase activity, omega peptidase activity, exopeptidase activity, protein binding, GO:0046900, GO:0045471, GO:0043312, GO:0042493, GO:0032868, GO:0010043, GO:0006508, tetrahydrofolylpolyglutamate metabolic process, response to ethanol, neutrophil degranulation, response to drug, response to insulin, response to zinc ion, proteolysis, 7 7 21 4 10 10 0 3 13 ENSG00000137571 chr8 69667047 69835064 - SLCO5A1 protein_coding This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. 81796 GO:0043231, GO:0005887, GO:0005886, intracellular membrane-bounded organelle, integral component of plasma membrane, plasma membrane, GO:0015347, sodium-independent organic anion transmembrane transporter activity, GO:0055085, GO:0043252, transmembrane transport, sodium-independent organic anion transport, 1 0 0 2 0 0 2 2 5 ENSG00000137573 chr8 69466624 69660915 + SULF1 protein_coding This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 23213 GO:0062023, GO:0045121, GO:0009986, GO:0009986, GO:0005886, GO:0005886, GO:0005795, GO:0005794, GO:0005783, GO:0005783, GO:0005615, GO:0005615, GO:0005615, collagen-containing extracellular matrix, membrane raft, cell surface, cell surface, plasma membrane, plasma membrane, Golgi stack, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, extracellular space, extracellular space, extracellular space, GO:0008449, GO:0008449, GO:0008449, GO:0005539, GO:0005509, GO:0004065, GO:0004065, N-acetylglucosamine-6-sulfatase activity, N-acetylglucosamine-6-sulfatase activity, N-acetylglucosamine-6-sulfatase activity, glycosaminoglycan binding, calcium ion binding, arylsulfatase activity, arylsulfatase activity, GO:0060686, GO:0060384, GO:0060348, GO:0051216, GO:0048706, GO:0048010, GO:0040037, GO:0040037, GO:0040037, GO:0040036, GO:0035860, GO:0032836, GO:0032836, GO:0030513, GO:0030336, GO:0030201, GO:0030201, GO:0030201, GO:0030177, GO:0030177, GO:0016525, GO:0014846, GO:0010575, GO:0010575, GO:0006915, GO:0003094, GO:0002063, GO:0001937, GO:0001822, negative regulation of prostatic bud formation, innervation, bone development, cartilage development, embryonic skeletal system development, vascular endothelial growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, regulation of fibroblast growth factor receptor signaling pathway, glial cell-derived neurotrophic factor receptor signaling pathway, glomerular basement membrane development, glomerular basement membrane development, positive regulation of BMP signaling pathway, negative regulation of cell migration, heparan sulfate proteoglycan metabolic process, heparan sulfate proteoglycan metabolic process, heparan sulfate proteoglycan metabolic process, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, negative regulation of angiogenesis, esophagus smooth muscle contraction, positive regulation of vascular endothelial growth factor production, positive regulation of vascular endothelial growth factor production, apoptotic process, glomerular filtration, chondrocyte development, negative regulation of endothelial cell proliferation, kidney development, 0 0 0 1 0 0 0 0 0 ENSG00000137574 chr8 55773142 55825448 + TGS1 protein_coding 96764 GO:0030532, GO:0015030, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005615, small nuclear ribonucleoprotein complex, Cajal body, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, extracellular space, GO:0071164, GO:0071164, GO:0008173, GO:0005515, RNA trimethylguanosine synthase activity, RNA trimethylguanosine synthase activity, RNA methyltransferase activity, protein binding, GO:0036261, GO:0036261, GO:0022613, GO:0019216, GO:0009452, GO:0000387, 7-methylguanosine cap hypermethylation, 7-methylguanosine cap hypermethylation, ribonucleoprotein complex biogenesis, regulation of lipid metabolic process, 7-methylguanosine RNA capping, spliceosomal snRNP assembly, 115 128 157 117 92 106 87 65 88 ENSG00000137575 chr8 58552924 58582860 + SDCBP protein_coding The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. Related pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Jan 2017]. 6386 GO:1903561, GO:0072562, GO:0070062, GO:0070062, GO:0045202, GO:0045121, GO:0042470, GO:0035578, GO:0031965, GO:0016020, GO:0005925, GO:0005912, GO:0005895, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005789, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005615, GO:0005576, extracellular vesicle, blood microparticle, extracellular exosome, extracellular exosome, synapse, membrane raft, melanosome, azurophil granule lumen, nuclear membrane, membrane, focal adhesion, adherens junction, interleukin-5 receptor complex, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, endoplasmic reticulum membrane, cytoplasm, cytoplasm, nucleoplasm, nucleus, extracellular space, extracellular region, GO:0047485, GO:0046982, GO:0045545, GO:0045545, GO:0045545, GO:0042802, GO:0008093, GO:0005546, GO:0005515, GO:0005137, GO:0005109, protein N-terminus binding, protein heterodimerization activity, syndecan binding, syndecan binding, syndecan binding, identical protein binding, cytoskeletal anchor activity, phosphatidylinositol-4,5-bisphosphate binding, protein binding, interleukin-5 receptor binding, frizzled binding, GO:1903553, GO:1903543, GO:0048013, GO:0046330, GO:0043312, GO:0042327, GO:0035556, GO:0032435, GO:0030511, GO:0030511, GO:0030335, GO:0030307, GO:0030036, GO:0010862, GO:0010862, GO:0010718, GO:0008284, GO:0007346, GO:0007268, GO:0006930, GO:0006612, GO:0002091, positive regulation of extracellular exosome assembly, positive regulation of exosomal secretion, ephrin receptor signaling pathway, positive regulation of JNK cascade, neutrophil degranulation, positive regulation of phosphorylation, intracellular signal transduction, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of transforming growth factor beta receptor signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, positive regulation of cell growth, actin cytoskeleton organization, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial to mesenchymal transition, positive regulation of cell population proliferation, regulation of mitotic cell cycle, chemical synaptic transmission, substrate-dependent cell migration, cell extension, protein targeting to membrane, negative regulation of receptor internalization, 18402 18128 26903 7823 12410 11719 9493 10772 10275 ENSG00000137601 chr4 169392857 169612629 - NEK1 protein_coding The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. 4750 GO:0034451, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0000242, centriolar satellite, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, pericentriolar material, GO:0106311, GO:0106310, GO:0071889, GO:0046872, GO:0016301, GO:0005524, GO:0005515, GO:0004713, GO:0004672, protein threonine kinase activity, protein serine kinase activity, 14-3-3 protein binding, metal ion binding, kinase activity, ATP binding, protein binding, protein tyrosine kinase activity, protein kinase activity, GO:0060271, GO:0051301, GO:0042769, GO:0018108, GO:0007049, GO:0006468, cilium assembly, cell division, DNA damage response, detection of DNA damage, peptidyl-tyrosine phosphorylation, cell cycle, protein phosphorylation, 68 83 59 99 87 58 89 77 81 ENSG00000137628 chr4 168216293 168318807 - DDX60 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017]. 55601 GO:0045111, GO:0005829, GO:0005737, intermediate filament cytoskeleton, cytosol, cytoplasm, GO:0005524, GO:0005515, GO:0003727, GO:0003725, GO:0003724, GO:0003690, ATP binding, protein binding, single-stranded RNA binding, double-stranded RNA binding, RNA helicase activity, double-stranded DNA binding, GO:1900246, GO:1900245, GO:0051607, GO:0045087, GO:0009615, positive regulation of RIG-I signaling pathway, positive regulation of MDA-5 signaling pathway, defense response to virus, innate immune response, response to virus, 171 128 266 180 111 304 162 100 230 ENSG00000137634 chr11 114570591 114595762 - NXPE4 protein_coding 54827 GO:0070062, extracellular exosome, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000137642 chr11 121452203 121633693 + SORL1 protein_coding This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]. 6653 GO:0097356, GO:0070062, GO:0055038, GO:0055037, GO:0032585, GO:0031985, GO:0031901, GO:0030658, GO:0016021, GO:0016020, GO:0010008, GO:0009986, GO:0005887, GO:0005886, GO:0005802, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005771, GO:0005769, GO:0005769, GO:0005768, GO:0005641, GO:0005615, GO:0000139, perinucleolar compartment, extracellular exosome, recycling endosome membrane, recycling endosome, multivesicular body membrane, Golgi cisterna, early endosome membrane, transport vesicle membrane, integral component of membrane, membrane, endosome membrane, cell surface, integral component of plasma membrane, plasma membrane, trans-Golgi network, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, multivesicular body, early endosome, early endosome, endosome, nuclear envelope lumen, extracellular space, Golgi membrane, GO:0042923, GO:0031267, GO:0030169, GO:0005515, GO:0005041, GO:0004888, GO:0001540, GO:0001540, neuropeptide binding, small GTPase binding, low-density lipoprotein particle binding, protein binding, low-density lipoprotein particle receptor activity, transmembrane signaling receptor activity, amyloid-beta binding, amyloid-beta binding, GO:2001137, GO:1990845, GO:1904179, GO:1902997, GO:1902966, GO:1902963, GO:1902960, GO:1902960, GO:1902955, GO:1902953, GO:1902948, GO:1902771, GO:1902430, GO:1902430, GO:1901215, GO:1900168, GO:0070863, GO:0051604, GO:0050768, GO:0046628, GO:0045732, GO:0045053, GO:0045053, GO:0044267, GO:0043407, GO:0038020, GO:0034067, GO:0032091, GO:0031333, GO:0030514, GO:0014910, GO:0010897, GO:0007218, GO:0006898, GO:0006892, GO:0006892, GO:0006622, GO:0006622, GO:0006605, GO:0006605, GO:0002024, positive regulation of endocytic recycling, adaptive thermogenesis, positive regulation of adipose tissue development, negative regulation of neurofibrillary tangle assembly, positive regulation of protein localization to early endosome, negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process, negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, positive regulation of early endosome to recycling endosome transport, positive regulation of ER to Golgi vesicle-mediated transport, negative regulation of tau-protein kinase activity, positive regulation of choline O-acetyltransferase activity, negative regulation of amyloid-beta formation, negative regulation of amyloid-beta formation, negative regulation of neuron death, positive regulation of glial cell-derived neurotrophic factor production, positive regulation of protein exit from endoplasmic reticulum, protein maturation, negative regulation of neurogenesis, positive regulation of insulin receptor signaling pathway, positive regulation of protein catabolic process, protein retention in Golgi apparatus, protein retention in Golgi apparatus, cellular protein metabolic process, negative regulation of MAP kinase activity, insulin receptor recycling, protein localization to Golgi apparatus, negative regulation of protein binding, negative regulation of protein-containing complex assembly, negative regulation of BMP signaling pathway, regulation of smooth muscle cell migration, negative regulation of triglyceride catabolic process, neuropeptide signaling pathway, receptor-mediated endocytosis, post-Golgi vesicle-mediated transport, post-Golgi vesicle-mediated transport, protein targeting to lysosome, protein targeting to lysosome, protein targeting, protein targeting, diet induced thermogenesis, 46492 52314 64321 19334 33781 31048 24854 25512 26217 ENSG00000137648 chr11 118077012 118121890 + TMPRSS4 protein_coding This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 56649 GO:0030141, GO:0016021, GO:0005615, secretory granule, integral component of membrane, extracellular space, GO:0008236, GO:0005515, GO:0005044, GO:0004252, serine-type peptidase activity, protein binding, scavenger receptor activity, serine-type endopeptidase activity, GO:0046598, GO:0045967, GO:0016485, GO:0010468, GO:0009611, GO:0006897, GO:0006508, GO:0006508, positive regulation of viral entry into host cell, negative regulation of growth rate, protein processing, regulation of gene expression, response to wounding, endocytosis, proteolysis, proteolysis, 0 0 1 5 1 0 0 0 0 ENSG00000137656 chr11 116748170 116772988 - BUD13 protein_coding 84811 GO:0071005, GO:0070274, GO:0070274, GO:0005684, GO:0005654, GO:0005634, U2-type precatalytic spliceosome, RES complex, RES complex, U2-type spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0000398, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 151 118 173 70 99 79 73 75 66 ENSG00000137672 chr11 101451564 101872562 - TRPC6 protein_coding The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]. 7225 GO:0036057, GO:0034703, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005737, slit diaphragm, cation channel complex, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0070679, GO:0070679, GO:0051117, GO:0042805, GO:0042803, GO:0030276, GO:0015279, GO:0005515, GO:0005261, GO:0003779, inositol 1,4,5 trisphosphate binding, inositol 1,4,5 trisphosphate binding, ATPase binding, actinin binding, protein homodimerization activity, clathrin binding, store-operated calcium channel activity, protein binding, cation channel activity, actin binding, GO:0071456, GO:0070588, GO:0070588, GO:0070301, GO:0051928, GO:0051480, GO:0050774, GO:0045666, GO:0032414, GO:0030182, GO:0030168, GO:0010800, GO:0007568, GO:0007338, GO:0007204, GO:0006828, GO:0006812, cellular response to hypoxia, calcium ion transmembrane transport, calcium ion transmembrane transport, cellular response to hydrogen peroxide, positive regulation of calcium ion transport, regulation of cytosolic calcium ion concentration, negative regulation of dendrite morphogenesis, positive regulation of neuron differentiation, positive regulation of ion transmembrane transporter activity, neuron differentiation, platelet activation, positive regulation of peptidyl-threonine phosphorylation, aging, single fertilization, positive regulation of cytosolic calcium ion concentration, manganese ion transport, cation transport, 2 1 1 0 0 0 0 0 0 ENSG00000137673 chr11 102520508 102530753 - MMP7 protein_coding This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]. 4316 GO:0070062, GO:0031012, GO:0009986, GO:0005615, GO:0005576, extracellular exosome, extracellular matrix, cell surface, extracellular space, extracellular region, GO:0008270, GO:0008237, GO:0008201, GO:0005515, GO:0004252, GO:0004222, GO:0004222, GO:0004175, zinc ion binding, metallopeptidase activity, heparin binding, protein binding, serine-type endopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:0071260, GO:0060135, GO:0044849, GO:0031667, GO:0031293, GO:0030574, GO:0030574, GO:0030335, GO:0030198, GO:0022617, GO:0007568, GO:0006509, GO:0006508, cellular response to mechanical stimulus, maternal process involved in female pregnancy, estrous cycle, response to nutrient levels, membrane protein intracellular domain proteolysis, collagen catabolic process, collagen catabolic process, positive regulation of cell migration, extracellular matrix organization, extracellular matrix disassembly, aging, membrane protein ectodomain proteolysis, proteolysis, 0 0 0 0 0 0 0 2 0 ENSG00000137674 chr11 102576835 102625332 - MMP20 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]. 9313 GO:0031012, GO:0005615, GO:0005576, extracellular matrix, extracellular space, extracellular region, GO:0008270, GO:0005515, GO:0004222, GO:0004222, zinc ion binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:0097186, GO:0070173, GO:0030574, GO:0030574, GO:0030198, GO:0030163, GO:0022617, GO:0006508, amelogenesis, regulation of enamel mineralization, collagen catabolic process, collagen catabolic process, extracellular matrix organization, protein catabolic process, extracellular matrix disassembly, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000137675 chr11 102691487 102705806 - MMP27 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]. 64066 GO:0042406, GO:0031012, extrinsic component of endoplasmic reticulum membrane, extracellular matrix, GO:0008270, GO:0004222, zinc ion binding, metalloendopeptidase activity, GO:0030574, GO:0030198, GO:0006508, collagen catabolic process, extracellular matrix organization, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000137691 chr11 102047443 102084560 + CFAP300 protein_coding 85016 GO:0031514, GO:0005856, GO:0005737, motile cilium, cytoskeleton, cytoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000137692 chr11 103062076 103092215 - DCUN1D5 protein_coding 84259 GO:0005634, GO:0005634, GO:0000151, nucleus, nucleus, ubiquitin ligase complex, GO:0097602, GO:0097602, GO:0032182, GO:0031624, GO:0005515, cullin family protein binding, cullin family protein binding, ubiquitin-like protein binding, ubiquitin conjugating enzyme binding, protein binding, GO:2000436, GO:2000434, GO:0051443, GO:0045116, GO:0006974, GO:0001558, positive regulation of protein neddylation, regulation of protein neddylation, positive regulation of ubiquitin-protein transferase activity, protein neddylation, cellular response to DNA damage stimulus, regulation of cell growth, 36 27 30 33 19 40 27 33 24 ENSG00000137693 chr11 102110461 102233423 + YAP1 protein_coding This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]. 10413 GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0140297, GO:0070064, GO:0008022, GO:0005515, GO:0003714, GO:0003714, GO:0003713, GO:0003713, GO:0003713, GO:0003682, GO:0000978, GO:0000976, DNA-binding transcription factor binding, proline-rich region binding, protein C-terminus binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, chromatin binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001237, GO:2000737, GO:1904036, GO:1902459, GO:1902036, GO:1902018, GO:1900182, GO:0090263, GO:0072307, GO:0072091, GO:0071480, GO:0071300, GO:0070102, GO:0065003, GO:0065003, GO:0061026, GO:0060576, GO:0060487, GO:0060449, GO:0060242, GO:0060045, GO:0050847, GO:0050767, GO:0050679, GO:0048368, GO:0048339, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045747, GO:0045669, GO:0045599, GO:0042060, GO:0035329, GO:0035329, GO:0035019, GO:0033148, GO:0032570, GO:0030903, GO:0030857, GO:0030216, GO:0010837, GO:0010629, GO:0010628, GO:0008283, GO:0006974, GO:0006367, GO:0003143, GO:0003015, GO:0001894, GO:0001570, GO:0000902, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of stem cell differentiation, negative regulation of epithelial cell apoptotic process, positive regulation of stem cell population maintenance, regulation of hematopoietic stem cell differentiation, negative regulation of cilium assembly, positive regulation of protein localization to nucleus, positive regulation of canonical Wnt signaling pathway, regulation of metanephric nephron tubule epithelial cell differentiation, regulation of stem cell proliferation, cellular response to gamma radiation, cellular response to retinoic acid, interleukin-6-mediated signaling pathway, protein-containing complex assembly, protein-containing complex assembly, cardiac muscle tissue regeneration, intestinal epithelial cell development, lung epithelial cell differentiation, bud elongation involved in lung branching, contact inhibition, positive regulation of cardiac muscle cell proliferation, progesterone receptor signaling pathway, regulation of neurogenesis, positive regulation of epithelial cell proliferation, lateral mesoderm development, paraxial mesoderm development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, wound healing, hippo signaling, hippo signaling, somatic stem cell population maintenance, positive regulation of intracellular estrogen receptor signaling pathway, response to progesterone, notochord development, negative regulation of epithelial cell differentiation, keratinocyte differentiation, regulation of keratinocyte proliferation, negative regulation of gene expression, positive regulation of gene expression, cell population proliferation, cellular response to DNA damage stimulus, transcription initiation from RNA polymerase II promoter, embryonic heart tube morphogenesis, heart process, tissue homeostasis, vasculogenesis, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 1 0 0 0 ENSG00000137699 chr11 120111275 120185529 - TRIM29 protein_coding The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq, Jul 2008]. 23650 GO:0005912, GO:0005764, adherens junction, lysosome, GO:0098641, GO:0042802, GO:0008270, GO:0005515, GO:0002039, cadherin binding involved in cell-cell adhesion, identical protein binding, zinc ion binding, protein binding, p53 binding, GO:1900181, GO:0098609, GO:0045087, GO:0000122, negative regulation of protein localization to nucleus, cell-cell adhesion, innate immune response, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000137700 chr11 119024114 119030906 - SLC37A4 protein_coding This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]. 2542 GO:0030176, GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0061513, GO:0061513, GO:0015152, GO:0005515, glucose 6-phosphate:inorganic phosphate antiporter activity, glucose 6-phosphate:inorganic phosphate antiporter activity, glucose-6-phosphate transmembrane transporter activity, protein binding, GO:0035435, GO:0015760, GO:0015760, GO:0015760, GO:0008643, GO:0006094, GO:0006006, phosphate ion transmembrane transport, glucose-6-phosphate transport, glucose-6-phosphate transport, glucose-6-phosphate transport, carbohydrate transport, gluconeogenesis, glucose metabolic process, 10 7 18 28 21 33 22 19 18 ENSG00000137707 chr11 111467526 111512354 - BTG4 protein_coding The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]. 54766 GO:0005737, GO:0005634, GO:0005575, cytoplasm, nucleus, cellular_component, GO:0045930, GO:0030182, GO:0008285, GO:0008285, GO:0007050, negative regulation of mitotic cell cycle, neuron differentiation, negative regulation of cell population proliferation, negative regulation of cell population proliferation, cell cycle arrest, 0 0 0 0 0 0 0 0 0 ENSG00000137709 chr11 120236640 120319944 + POU2F3 protein_coding This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 25833 GO:0016604, GO:0005886, GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0000785, GO:0000785, nuclear body, plasma membrane, cytosol, nucleolus, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0043922, GO:0008544, GO:0006357, GO:0006357, positive regulation of transcription by RNA polymerase II, negative regulation by host of viral transcription, epidermis development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 3 0 0 0 0 0 ENSG00000137710 chr11 109864295 110296722 - RDX protein_coding Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 5962 GO:0071944, GO:0070062, GO:0051286, GO:0032420, GO:0032154, GO:0030864, GO:0030496, GO:0030315, GO:0030175, GO:0030027, GO:0016324, GO:0005925, GO:0005925, GO:0005912, GO:0005902, GO:0005886, GO:0005886, GO:0005615, GO:0001726, cell periphery, extracellular exosome, cell tip, stereocilium, cleavage furrow, cortical actin cytoskeleton, midbody, T-tubule, filopodium, lamellipodium, apical plasma membrane, focal adhesion, focal adhesion, adherens junction, microvillus, plasma membrane, plasma membrane, extracellular space, ruffle, GO:0051117, GO:0051018, GO:0045296, GO:0019904, GO:0005515, GO:0003779, GO:0003723, ATPase binding, protein kinase A binding, cadherin binding, protein domain specific binding, protein binding, actin binding, RNA binding, GO:2000643, GO:1903392, GO:1903364, GO:1902966, GO:1902115, GO:1900087, GO:1900027, GO:0097067, GO:0072659, GO:0061028, GO:0051016, GO:0045792, GO:0045184, GO:0045176, GO:0043087, GO:0036120, GO:0034260, GO:0034111, GO:0032487, GO:0032231, GO:0030335, GO:0030033, GO:0010737, GO:0010628, GO:0008361, GO:0008360, positive regulation of early endosome to late endosome transport, negative regulation of adherens junction organization, positive regulation of cellular protein catabolic process, positive regulation of protein localization to early endosome, regulation of organelle assembly, positive regulation of G1/S transition of mitotic cell cycle, regulation of ruffle assembly, cellular response to thyroid hormone stimulus, protein localization to plasma membrane, establishment of endothelial barrier, barbed-end actin filament capping, negative regulation of cell size, establishment of protein localization, apical protein localization, regulation of GTPase activity, cellular response to platelet-derived growth factor stimulus, negative regulation of GTPase activity, negative regulation of homotypic cell-cell adhesion, regulation of Rap protein signal transduction, regulation of actin filament bundle assembly, positive regulation of cell migration, microvillus assembly, protein kinase A signaling, positive regulation of gene expression, regulation of cell size, regulation of cell shape, 52 16 63 39 26 85 41 26 34 ENSG00000137713 chr11 111726908 111766427 - PPP2R1B protein_coding This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]. 5519 GO:0070062, GO:0045121, GO:0008287, GO:0005737, GO:0000159, extracellular exosome, membrane raft, protein serine/threonine phosphatase complex, cytoplasm, protein phosphatase type 2A complex, GO:0019888, GO:0005515, GO:0004722, protein phosphatase regulator activity, protein binding, protein serine/threonine phosphatase activity, GO:2001241, GO:0060561, GO:0043666, GO:0006470, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, apoptotic process involved in morphogenesis, regulation of phosphoprotein phosphatase activity, protein dephosphorylation, 207 82 94 367 34 75 354 36 65 ENSG00000137714 chr11 110429883 110464881 + FDX1 protein_coding This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]. 2230 GO:0005759, GO:0005759, GO:0005739, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0051537, GO:0009055, GO:0005506, 2 iron, 2 sulfur cluster binding, electron transfer activity, iron ion binding, GO:1904322, GO:0071320, GO:0044281, GO:0042446, GO:0022900, GO:0016125, GO:0008203, GO:0006700, cellular response to forskolin, cellular response to cAMP, small molecule metabolic process, hormone biosynthetic process, electron transport chain, sterol metabolic process, cholesterol metabolic process, C21-steroid hormone biosynthetic process, 18 11 27 46 22 57 47 20 29 ENSG00000137720 chr11 111878935 111885975 + C11orf1 protein_coding 64776 GO:0005654, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 6 8 4 29 6 10 12 13 16 ENSG00000137726 chr11 117836976 117877486 - FXYD6 protein_coding This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]. 53826 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0099106, GO:0017080, GO:0005515, GO:0003674, ion channel regulator activity, sodium channel regulator activity, protein binding, molecular_function, GO:2000649, GO:1903779, GO:0034220, GO:0008150, regulation of sodium ion transmembrane transporter activity, regulation of cardiac conduction, ion transmembrane transport, biological_process, 0 1 7 3 1 1 0 2 1 ENSG00000137727 chr11 110577042 110713189 - ARHGAP20 protein_coding The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]. 57569 GO:0005829, cytosol, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 0 0 0 0 0 0 0 3 3 ENSG00000137731 chr11 117800844 117828698 - FXYD2 protein_coding This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011]. 486 GO:0070062, GO:0005890, GO:0005886, extracellular exosome, sodium:potassium-exchanging ATPase complex, plasma membrane, GO:0099106, GO:0017080, GO:0005391, GO:0005215, ion channel regulator activity, sodium channel regulator activity, sodium:potassium-exchanging ATPase activity, transporter activity, GO:2000649, GO:1990573, GO:1903779, GO:0055085, GO:0036376, GO:0034220, GO:0010248, regulation of sodium ion transmembrane transporter activity, potassium ion import across plasma membrane, regulation of cardiac conduction, transmembrane transport, sodium ion export across plasma membrane, ion transmembrane transport, establishment or maintenance of transmembrane electrochemical gradient, 0 0 0 0 0 1 0 0 0 ENSG00000137745 chr11 102942995 102955734 - MMP13 protein_coding This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]. 4322 GO:0031012, GO:0005615, GO:0005576, extracellular matrix, extracellular space, extracellular region, GO:0008270, GO:0005518, GO:0005509, GO:0004222, GO:0004222, GO:0004222, GO:0004175, zinc ion binding, collagen binding, calcium ion binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:1904645, GO:0060349, GO:0044267, GO:0030574, GO:0030574, GO:0030574, GO:0030282, GO:0030198, GO:0022617, GO:0022617, GO:0006508, GO:0003417, GO:0001958, response to amyloid-beta, bone morphogenesis, cellular protein metabolic process, collagen catabolic process, collagen catabolic process, collagen catabolic process, bone mineralization, extracellular matrix organization, extracellular matrix disassembly, extracellular matrix disassembly, proteolysis, growth plate cartilage development, endochondral ossification, 0 0 0 0 0 0 0 0 0 ENSG00000137747 chr11 117900643 117929459 - TMPRSS13 protein_coding This gene encodes a member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 84000 GO:0072562, GO:0016021, blood microparticle, integral component of membrane, GO:0005044, GO:0004252, scavenger receptor activity, serine-type endopeptidase activity, GO:0006897, GO:0006508, endocytosis, proteolysis, 2 5 3 2 4 5 0 1 7 ENSG00000137752 chr11 105025443 105035250 - CASP1 protein_coding This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]. 834 GO:0097179, GO:0097169, GO:0097169, GO:0072559, GO:0072559, GO:0072558, GO:0072557, GO:0072557, GO:0032991, GO:0032991, GO:0005886, GO:0005829, GO:0005737, protease inhibitor complex, AIM2 inflammasome complex, AIM2 inflammasome complex, NLRP3 inflammasome complex, NLRP3 inflammasome complex, NLRP1 inflammasome complex, IPAF inflammasome complex, IPAF inflammasome complex, protein-containing complex, protein-containing complex, plasma membrane, cytosol, cytoplasm, GO:0097200, GO:0097199, GO:0097153, GO:0050700, GO:0042802, GO:0042802, GO:0019900, GO:0008656, GO:0005515, GO:0004197, GO:0004197, GO:0004175, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, CARD domain binding, identical protein binding, identical protein binding, kinase binding, cysteine-type endopeptidase activator activity involved in apoptotic process, protein binding, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, endopeptidase activity, GO:1903265, GO:0140448, GO:0097194, GO:0097190, GO:0071346, GO:0071345, GO:0071310, GO:0071260, GO:0071222, GO:0070269, GO:0050727, GO:0050727, GO:0043280, GO:0043123, GO:0043123, GO:0042981, GO:0032731, GO:0032731, GO:0032611, GO:0019221, GO:0016540, GO:0007165, GO:0006919, GO:0006915, GO:0006508, positive regulation of tumor necrosis factor-mediated signaling pathway, signaling receptor ligand precursor processing, execution phase of apoptosis, apoptotic signaling pathway, cellular response to interferon-gamma, cellular response to cytokine stimulus, cellular response to organic substance, cellular response to mechanical stimulus, cellular response to lipopolysaccharide, pyroptosis, regulation of inflammatory response, regulation of inflammatory response, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 beta production, interleukin-1 beta production, cytokine-mediated signaling pathway, protein autoprocessing, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, proteolysis, 1952 1453 2816 801 1165 1275 978 1095 1270 ENSG00000137757 chr11 104994235 105023168 - CASP5 protein_coding This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]. 838 GO:0072558, GO:0072558, GO:0005737, NLRP1 inflammasome complex, NLRP1 inflammasome complex, cytoplasm, GO:0097200, GO:0097199, GO:0097153, GO:0008234, GO:0005515, GO:0004197, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, cysteine-type peptidase activity, protein binding, cysteine-type endopeptidase activity, GO:0097194, GO:0097190, GO:0071260, GO:0050727, GO:0021762, GO:0006919, GO:0006915, GO:0006508, execution phase of apoptosis, apoptotic signaling pathway, cellular response to mechanical stimulus, regulation of inflammatory response, substantia nigra development, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, proteolysis, 201 109 233 128 95 80 133 85 164 ENSG00000137760 chr11 107502726 107565746 - ALKBH8 protein_coding 91801 GO:0016604, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear body, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0016706, GO:0016706, GO:0016300, GO:0016300, GO:0008270, GO:0005515, GO:0005506, GO:0000049, GO:0000049, 2-oxoglutarate-dependent dioxygenase activity, 2-oxoglutarate-dependent dioxygenase activity, tRNA (uracil) methyltransferase activity, tRNA (uracil) methyltransferase activity, zinc ion binding, protein binding, iron ion binding, tRNA binding, tRNA binding, GO:0055114, GO:0030488, GO:0030488, GO:0006974, GO:0002098, GO:0002098, GO:0002098, oxidation-reduction process, tRNA methylation, tRNA methylation, cellular response to DNA damage stimulus, tRNA wobble uridine modification, tRNA wobble uridine modification, tRNA wobble uridine modification, 7 6 13 28 4 41 18 9 27 ENSG00000137764 chr15 67542709 67807123 + MAP2K5 protein_coding The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]. 5607 GO:0005829, GO:0005819, GO:0005634, cytosol, spindle, nucleus, GO:0046872, GO:0005524, GO:0005515, GO:0004713, GO:0004708, GO:0004674, GO:0004672, metal ion binding, ATP binding, protein binding, protein tyrosine kinase activity, MAP kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2001240, GO:2000342, GO:0090051, GO:0071499, GO:0071363, GO:0070375, GO:0060761, GO:0051247, GO:0050679, GO:0045944, GO:0043154, GO:0034115, GO:0032717, GO:0032088, GO:0030307, GO:0018108, GO:0007507, GO:0007165, GO:0000187, GO:0000187, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of chemokine (C-X-C motif) ligand 2 production, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to laminar fluid shear stress, cellular response to growth factor stimulus, ERK5 cascade, negative regulation of response to cytokine stimulus, positive regulation of protein metabolic process, positive regulation of epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of heterotypic cell-cell adhesion, negative regulation of interleukin-8 production, negative regulation of NF-kappaB transcription factor activity, positive regulation of cell growth, peptidyl-tyrosine phosphorylation, heart development, signal transduction, activation of MAPK activity, activation of MAPK activity, negative regulation of transcription by RNA polymerase II, 46 53 56 69 39 53 43 49 37 ENSG00000137766 chr15 53978201 54633414 + UNC13C protein_coding 440279 GO:0098831, GO:0098688, GO:0048786, GO:0044305, GO:0043195, GO:0042734, GO:0031594, GO:0030672, GO:0005886, GO:0005886, presynaptic active zone cytoplasmic component, parallel fiber to Purkinje cell synapse, presynaptic active zone, calyx of Held, terminal bouton, presynaptic membrane, neuromuscular junction, synaptic vesicle membrane, plasma membrane, plasma membrane, GO:0019992, GO:0017075, GO:0005543, GO:0005516, GO:0005509, diacylglycerol binding, syntaxin-1 binding, phospholipid binding, calmodulin binding, calcium ion binding, GO:0099525, GO:0061789, GO:0035556, GO:0035249, GO:0031914, GO:0016188, GO:0016082, GO:0016081, GO:0007528, GO:0007268, presynaptic dense core vesicle exocytosis, dense core granule priming, intracellular signal transduction, synaptic transmission, glutamatergic, negative regulation of synaptic plasticity, synaptic vesicle maturation, synaptic vesicle priming, synaptic vesicle docking, neuromuscular junction development, chemical synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000137767 chr15 45631148 45691294 + SQOR protein_coding The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]. 58472 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0071949, GO:0070224, GO:0070224, GO:0048038, FAD binding, sulfide:quinone oxidoreductase activity, sulfide:quinone oxidoreductase activity, quinone binding, GO:0070813, GO:0070221, GO:0070221, hydrogen sulfide metabolic process, sulfide oxidation, using sulfide:quinone oxidoreductase, sulfide oxidation, using sulfide:quinone oxidoreductase, 379 288 462 167 302 182 188 312 202 ENSG00000137770 chr15 44427234 44529038 + CTDSPL2 protein_coding 51496 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0008420, GO:0005515, GO:0004721, RNA polymerase II CTD heptapeptide repeat phosphatase activity, protein binding, phosphoprotein phosphatase activity, GO:0046827, GO:0030514, GO:0006470, positive regulation of protein export from nucleus, negative regulation of BMP signaling pathway, protein dephosphorylation, 397 403 456 344 382 482 281 290 330 ENSG00000137776 chr15 58879045 58933653 - SLTM protein_coding 79811 GO:0016604, GO:0005654, GO:0005634, nuclear body, nucleoplasm, nucleus, GO:0043565, GO:0005515, GO:0003723, sequence-specific DNA binding, protein binding, RNA binding, GO:0050684, GO:0006915, GO:0006357, regulation of mRNA processing, apoptotic process, regulation of transcription by RNA polymerase II, 655 640 876 753 720 910 733 536 625 ENSG00000137801 chr15 39581079 39599466 + THBS1 protein_coding The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]. 7057 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0031093, GO:0031091, GO:0031012, GO:0030141, GO:0016529, GO:0009986, GO:0009897, GO:0005788, GO:0005783, GO:0005615, GO:0005615, GO:0005577, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet alpha granule lumen, platelet alpha granule, extracellular matrix, secretory granule, sarcoplasmic reticulum, cell surface, external side of plasma membrane, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, extracellular space, fibrinogen complex, extracellular region, extracellular region, GO:0070052, GO:0070051, GO:0050431, GO:0050431, GO:0043394, GO:0043236, GO:0042802, GO:0030169, GO:0017134, GO:0008201, GO:0005515, GO:0005509, GO:0005201, GO:0005201, GO:0005201, GO:0005178, GO:0001968, GO:0001786, collagen V binding, fibrinogen binding, transforming growth factor beta binding, transforming growth factor beta binding, proteoglycan binding, laminin binding, identical protein binding, low-density lipoprotein particle binding, fibroblast growth factor binding, heparin binding, protein binding, calcium ion binding, extracellular matrix structural constituent, extracellular matrix structural constituent, extracellular matrix structural constituent, integrin binding, fibronectin binding, phosphatidylserine binding, GO:2001237, GO:2001027, GO:2000379, GO:2000353, GO:1903671, GO:1903588, GO:1902043, GO:0090051, GO:0051918, GO:0051897, GO:0051895, GO:0051592, GO:0050921, GO:0048661, GO:0048266, GO:0045766, GO:0045727, GO:0045652, GO:0043652, GO:0043537, GO:0043536, GO:0043154, GO:0043066, GO:0043032, GO:0042493, GO:0042327, GO:0040037, GO:0034976, GO:0034605, GO:0032914, GO:0032760, GO:0032695, GO:0032570, GO:0032026, GO:0030511, GO:0030335, GO:0030335, GO:0030198, GO:0030194, GO:0018149, GO:0016525, GO:0016525, GO:0016525, GO:0016477, GO:0010763, GO:0010759, GO:0010757, GO:0010754, GO:0010751, GO:0010748, GO:0010596, GO:0010595, GO:0009749, GO:0008284, GO:0007155, GO:0007050, GO:0006986, GO:0006955, GO:0006954, GO:0002605, GO:0002581, GO:0002576, GO:0002544, GO:0002040, GO:0001953, GO:0001937, GO:0001937, GO:0001666, GO:0000187, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of endothelial cell chemotaxis, positive regulation of reactive oxygen species metabolic process, positive regulation of endothelial cell apoptotic process, negative regulation of sprouting angiogenesis, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of fibrinolysis, positive regulation of protein kinase B signaling, negative regulation of focal adhesion assembly, response to calcium ion, positive regulation of chemotaxis, positive regulation of smooth muscle cell proliferation, behavioral response to pain, positive regulation of angiogenesis, positive regulation of translation, regulation of megakaryocyte differentiation, engulfment of apoptotic cell, negative regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of macrophage activation, response to drug, positive regulation of phosphorylation, negative regulation of fibroblast growth factor receptor signaling pathway, response to endoplasmic reticulum stress, cellular response to heat, positive regulation of transforming growth factor beta1 production, positive regulation of tumor necrosis factor production, negative regulation of interleukin-12 production, response to progesterone, response to magnesium ion, positive regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, positive regulation of cell migration, extracellular matrix organization, positive regulation of blood coagulation, peptide cross-linking, negative regulation of angiogenesis, negative regulation of angiogenesis, negative regulation of angiogenesis, cell migration, positive regulation of fibroblast migration, positive regulation of macrophage chemotaxis, negative regulation of plasminogen activation, negative regulation of cGMP-mediated signaling, negative regulation of nitric oxide mediated signal transduction, negative regulation of long-chain fatty acid import across plasma membrane, negative regulation of endothelial cell migration, positive regulation of endothelial cell migration, response to glucose, positive regulation of cell population proliferation, cell adhesion, cell cycle arrest, response to unfolded protein, immune response, inflammatory response, negative regulation of dendritic cell antigen processing and presentation, negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II, platelet degranulation, chronic inflammatory response, sprouting angiogenesis, negative regulation of cell-matrix adhesion, negative regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, response to hypoxia, activation of MAPK activity, 490 543 625 215 151 88 244 143 47 ENSG00000137802 chr15 41774434 41827855 + MAPKBP1 protein_coding This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]. 23005 GO:0097431, GO:0005737, GO:0005730, GO:0005654, mitotic spindle pole, cytoplasm, nucleolus, nucleoplasm, GO:0005515, protein binding, GO:1900425, GO:0043124, GO:0032717, negative regulation of defense response to bacterium, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of interleukin-8 production, 124 135 143 128 156 116 124 118 136 ENSG00000137804 chr15 41332694 41381050 + NUSAP1 protein_coding NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]. 51203 GO:0072686, GO:0005876, GO:0005737, GO:0005730, GO:0005694, mitotic spindle, spindle microtubule, cytoplasm, nucleolus, chromosome, GO:0008017, GO:0005515, GO:0003723, GO:0003677, microtubule binding, protein binding, RNA binding, DNA binding, GO:0045840, GO:0040001, GO:0040001, GO:0007076, GO:0007076, GO:0000281, GO:0000281, GO:0000070, positive regulation of mitotic nuclear division, establishment of mitotic spindle localization, establishment of mitotic spindle localization, mitotic chromosome condensation, mitotic chromosome condensation, mitotic cytokinesis, mitotic cytokinesis, mitotic sister chromatid segregation, 2 6 3 3 1 1 4 0 0 ENSG00000137806 chr15 41387349 41402519 - NDUFAF1 protein_coding This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]. 51103 GO:0005829, GO:0005759, GO:0005747, GO:0005743, GO:0005739, GO:0005739, cytosol, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0051082, GO:0051082, GO:0005515, unfolded protein binding, unfolded protein binding, protein binding, GO:0065003, GO:0051131, GO:0032981, GO:0032981, GO:0032981, GO:0010257, GO:0006120, GO:0006120, protein-containing complex assembly, chaperone-mediated protein complex assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, NADH dehydrogenase complex assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 56 67 62 38 73 55 40 60 41 ENSG00000137807 chr15 69414246 69448427 + KIF23 protein_coding The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 9493 GO:0097149, GO:0090543, GO:0072686, GO:0045171, GO:0030496, GO:0005925, GO:0005874, GO:0005871, GO:0005829, GO:0005819, GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0005634, centralspindlin complex, Flemming body, mitotic spindle, intercellular bridge, midbody, focal adhesion, microtubule, kinesin complex, cytosol, spindle, centrosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0016887, GO:0008017, GO:0008017, GO:0005524, GO:0005515, GO:0003777, ATPase activity, microtubule binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0072383, GO:0051256, GO:0051256, GO:0032467, GO:0019886, GO:0007018, GO:0007018, GO:0006890, GO:0000915, GO:0000281, GO:0000022, plus-end-directed vesicle transport along microtubule, mitotic spindle midzone assembly, mitotic spindle midzone assembly, positive regulation of cytokinesis, antigen processing and presentation of exogenous peptide antigen via MHC class II, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, actomyosin contractile ring assembly, mitotic cytokinesis, mitotic spindle elongation, 14 26 40 9 29 26 5 10 10 ENSG00000137808 chr15 68930504 69028889 + AC027088.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000137809 chr15 68296533 68432162 - ITGA11 protein_coding This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]. 22801 GO:0034681, GO:0016020, GO:0008305, GO:0005925, GO:0005925, GO:0005886, integrin alpha11-beta1 complex, membrane, integrin complex, focal adhesion, focal adhesion, plasma membrane, GO:0098639, GO:0046872, GO:0038064, GO:0005518, collagen binding involved in cell-matrix adhesion, metal ion binding, collagen receptor activity, collagen binding, GO:0038065, GO:0033627, GO:0030198, GO:0007517, GO:0007229, GO:0007160, GO:0007155, GO:0006929, GO:0001649, collagen-activated signaling pathway, cell adhesion mediated by integrin, extracellular matrix organization, muscle organ development, integrin-mediated signaling pathway, cell-matrix adhesion, cell adhesion, substrate-dependent cell migration, osteoblast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000137812 chr15 40594020 40664342 + KNL1 protein_coding The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]. 57082 GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001669, GO:0000777, GO:0000777, nuclear body, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, acrosomal vesicle, condensed chromosome kinetochore, condensed chromosome kinetochore, GO:0005515, protein binding, GO:0051301, GO:0034501, GO:0034501, GO:0034080, GO:0010923, GO:0008608, GO:0008608, GO:0001675, cell division, protein localization to kinetochore, protein localization to kinetochore, CENP-A containing nucleosome assembly, negative regulation of phosphatase activity, attachment of spindle microtubules to kinetochore, attachment of spindle microtubules to kinetochore, acrosome assembly, 5 5 5 5 6 8 16 2 3 ENSG00000137814 chr15 42548810 42569994 + HAUS2 protein_coding The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]. 55142 GO:0070652, GO:0005876, GO:0005829, GO:0005813, HAUS complex, spindle microtubule, cytosol, centrosome, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097711, GO:0051301, GO:0051225, GO:0010389, GO:0007098, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, G2/M transition of mitotic cell cycle, 37 27 58 99 37 132 75 35 61 ENSG00000137815 chr15 41408408 41483563 + RTF1 protein_coding This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]. 23168 GO:0016593, GO:0016593, GO:0005730, GO:0005654, Cdc73/Paf1 complex, Cdc73/Paf1 complex, nucleolus, nucleoplasm, GO:1990269, GO:0005515, GO:0003723, GO:0003697, RNA polymerase II C-terminal domain phosphoserine binding, protein binding, RNA binding, single-stranded DNA binding, GO:0080182, GO:0051571, GO:0019827, GO:0016567, GO:0016055, GO:0006368, GO:0006368, GO:0006366, GO:0001832, GO:0001711, GO:0000122, histone H3-K4 trimethylation, positive regulation of histone H3-K4 methylation, stem cell population maintenance, protein ubiquitination, Wnt signaling pathway, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, blastocyst growth, endodermal cell fate commitment, negative regulation of transcription by RNA polymerase II, 1116 1053 1224 430 627 603 507 584 454 ENSG00000137817 chr15 72241181 72272999 - PARP6 protein_coding 56965 GO:0005622, intracellular anatomical structure, GO:1990404, GO:0003950, protein ADP-ribosylase activity, NAD+ ADP-ribosyltransferase activity, GO:0140289, GO:0070213, GO:0050775, GO:0006471, protein mono-ADP-ribosylation, protein auto-ADP-ribosylation, positive regulation of dendrite morphogenesis, protein ADP-ribosylation, 252 275 326 307 306 360 262 247 252 ENSG00000137818 chr15 69452784 69456194 + RPLP1 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6176 GO:0022625, GO:0022625, GO:0022625, GO:0005925, GO:0005829, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, focal adhesion, cytosol, GO:0043021, GO:0030295, GO:0005515, GO:0003735, GO:0003735, GO:0003735, ribonucleoprotein complex binding, protein kinase activator activity, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, GO:0032147, GO:0019083, GO:0006614, GO:0006414, GO:0006413, GO:0006412, GO:0002181, GO:0000184, activation of protein kinase activity, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational elongation, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1158 1402 1752 2960 3130 4021 1985 2191 2944 ENSG00000137819 chr15 69298947 69407780 + PAQR5 protein_coding 54852 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0038023, GO:0005515, GO:0005496, signaling receptor activity, protein binding, steroid binding, GO:0048477, GO:0007275, oogenesis, multicellular organism development, 3 6 5 4 6 1 1 3 1 ENSG00000137821 chr15 70853239 71053657 + LRRC49 protein_coding 54839 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0036158, outer dynein arm assembly, 0 0 0 0 0 4 0 0 0 ENSG00000137822 chr15 43369221 43409771 + TUBGCP4 protein_coding This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]. 27229 GO:0055037, GO:0016020, GO:0015630, GO:0008274, GO:0005874, GO:0005829, GO:0005813, GO:0005813, GO:0000930, GO:0000923, GO:0000922, recycling endosome, membrane, microtubule cytoskeleton, gamma-tubulin ring complex, microtubule, cytosol, centrosome, centrosome, gamma-tubulin complex, equatorial microtubule organizing center, spindle pole, GO:0051011, GO:0043015, GO:0005515, GO:0005200, microtubule minus-end binding, gamma-tubulin binding, protein binding, structural constituent of cytoskeleton, GO:0065003, GO:0051415, GO:0051321, GO:0051225, GO:0031122, GO:0007020, GO:0000278, protein-containing complex assembly, microtubule nucleation by interphase microtubule organizing center, meiotic cell cycle, spindle assembly, cytoplasmic microtubule organization, microtubule nucleation, mitotic cell cycle, 214 194 352 215 171 215 173 128 142 ENSG00000137824 chr15 40735884 40755851 - RMDN3 protein_coding 55177 GO:0097431, GO:0045171, GO:0044232, GO:0016021, GO:0005876, GO:0005741, GO:0005739, GO:0005634, mitotic spindle pole, intercellular bridge, organelle membrane contact site, integral component of membrane, spindle microtubule, mitochondrial outer membrane, mitochondrion, nucleus, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0030154, GO:0006915, GO:0006874, cell differentiation, apoptotic process, cellular calcium ion homeostasis, 24 17 41 63 32 75 44 24 45 ENSG00000137825 chr15 41493393 41503551 + ITPKA protein_coding Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]. 3706 GO:0043197, GO:0005829, GO:0005737, GO:0005634, dendritic spine, cytosol, cytoplasm, nucleus, GO:0031267, GO:0016301, GO:0008440, GO:0005524, GO:0005516, GO:0004683, GO:0000828, small GTPase binding, kinase activity, inositol-1,4,5-trisphosphate 3-kinase activity, ATP binding, calmodulin binding, calmodulin-dependent protein kinase activity, inositol hexakisphosphate kinase activity, GO:0097062, GO:0061003, GO:0048167, GO:0046854, GO:0043647, GO:0032958, GO:0030036, GO:0007165, GO:0006468, GO:0006020, dendritic spine maintenance, positive regulation of dendritic spine morphogenesis, regulation of synaptic plasticity, phosphatidylinositol phosphorylation, inositol phosphate metabolic process, inositol phosphate biosynthetic process, actin cytoskeleton organization, signal transduction, protein phosphorylation, inositol metabolic process, 0 0 0 0 0 0 0 0 3 ENSG00000137831 chr15 70654554 70763593 - UACA protein_coding This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]. 55075 GO:0070062, GO:0005856, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005576, extracellular exosome, cytoskeleton, cytosol, cytosol, nucleoplasm, nucleus, extracellular region, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1901223, GO:0097190, GO:0043280, GO:0008150, negative regulation of NIK/NF-kappaB signaling, apoptotic signaling pathway, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, biological_process, 2 1 2 0 4 5 7 7 12 ENSG00000137834 chr15 66702228 66782848 + SMAD6 protein_coding The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]. 4091 GO:0071144, GO:0032991, GO:0016604, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, heteromeric SMAD protein complex, protein-containing complex, nuclear body, cytosol, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0140416, GO:0140416, GO:0140416, GO:0070698, GO:0070412, GO:0070411, GO:0070411, GO:0070410, GO:0046872, GO:0042802, GO:0034713, GO:0031625, GO:0005515, GO:0003682, GO:0000976, transcription regulator inhibitor activity, transcription regulator inhibitor activity, transcription regulator inhibitor activity, type I activin receptor binding, R-SMAD binding, I-SMAD binding, I-SMAD binding, co-SMAD binding, metal ion binding, identical protein binding, type I transforming growth factor beta receptor binding, ubiquitin protein ligase binding, protein binding, chromatin binding, transcription regulatory region sequence-specific DNA binding, GO:1902895, GO:0060976, GO:0060395, GO:0060394, GO:0060394, GO:0045668, GO:0045444, GO:0043627, GO:0043066, GO:0035904, GO:0034616, GO:0032496, GO:0031589, GO:0030514, GO:0030514, GO:0030512, GO:0030512, GO:0030509, GO:0030509, GO:0030509, GO:0030279, GO:0030154, GO:0010991, GO:0009653, GO:0008285, GO:0007352, GO:0007179, GO:0006955, GO:0006357, GO:0003281, GO:0003184, GO:0003183, GO:0003180, GO:0003148, GO:0001657, positive regulation of pri-miRNA transcription by RNA polymerase II, coronary vasculature development, SMAD protein signal transduction, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of osteoblast differentiation, fat cell differentiation, response to estrogen, negative regulation of apoptotic process, aorta development, response to laminar fluid shear stress, response to lipopolysaccharide, cell-substrate adhesion, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, negative regulation of ossification, cell differentiation, negative regulation of SMAD protein complex assembly, anatomical structure morphogenesis, negative regulation of cell population proliferation, zygotic specification of dorsal/ventral axis, transforming growth factor beta receptor signaling pathway, immune response, regulation of transcription by RNA polymerase II, ventricular septum development, pulmonary valve morphogenesis, mitral valve morphogenesis, aortic valve morphogenesis, outflow tract septum morphogenesis, ureteric bud development, 0 0 1 1 0 0 0 0 0 ENSG00000137841 chr15 40278176 40307935 - PLCB2 protein_coding The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]. 5330 GO:0005829, cytosol, GO:0005515, GO:0005509, GO:0004629, GO:0004435, GO:0004435, GO:0004435, protein binding, calcium ion binding, phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:0050913, GO:0048015, GO:0046488, GO:0043647, GO:0016042, GO:0007223, GO:0007202, GO:0007186, GO:0006644, sensory perception of bitter taste, phosphatidylinositol-mediated signaling, phosphatidylinositol metabolic process, inositol phosphate metabolic process, lipid catabolic process, Wnt signaling pathway, calcium modulating pathway, activation of phospholipase C activity, G protein-coupled receptor signaling pathway, phospholipid metabolic process, 3295 4143 5644 3446 4941 5400 3644 3526 4754 ENSG00000137842 chr15 43123279 43185146 + TMEM62 protein_coding 80021 GO:0016021, integral component of membrane, GO:0016787, hydrolase activity, 46 47 65 37 40 24 57 48 38 ENSG00000137843 chr15 40238759 40277487 + PAK6 protein_coding This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 56924 GO:0030054, GO:0005737, GO:0005654, GO:0001650, cell junction, cytoplasm, nucleoplasm, fibrillar center, GO:0106311, GO:0106310, GO:0045296, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, cadherin binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:1990138, GO:0140058, GO:0032147, GO:0031098, GO:0023014, GO:0007626, GO:0007613, GO:0007612, GO:0007010, GO:0006915, GO:0006355, neuron projection extension, neuron projection arborization, activation of protein kinase activity, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, locomotory behavior, memory, learning, cytoskeleton organization, apoptotic process, regulation of transcription, DNA-templated, 0 1 0 0 0 0 0 0 0 ENSG00000137845 chr15 58588807 58749978 - ADAM10 protein_coding Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]. 102 GO:0098978, GO:0097197, GO:0097060, GO:0097060, GO:0097038, GO:0070821, GO:0070062, GO:0046930, GO:0045211, GO:0043231, GO:0043197, GO:0043025, GO:0035579, GO:0030424, GO:0030136, GO:0016021, GO:0016020, GO:0014069, GO:0009986, GO:0008021, GO:0005925, GO:0005912, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005802, GO:0005798, GO:0005794, GO:0005788, GO:0005737, GO:0005634, GO:0000139, glutamatergic synapse, tetraspanin-enriched microdomain, synaptic membrane, synaptic membrane, perinuclear endoplasmic reticulum, tertiary granule membrane, extracellular exosome, pore complex, postsynaptic membrane, intracellular membrane-bounded organelle, dendritic spine, neuronal cell body, specific granule membrane, axon, clathrin-coated vesicle, integral component of membrane, membrane, postsynaptic density, cell surface, synaptic vesicle, focal adhesion, adherens junction, plasma membrane, plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, Golgi-associated vesicle, Golgi apparatus, endoplasmic reticulum lumen, cytoplasm, nucleus, Golgi membrane, GO:1902945, GO:1902945, GO:0046872, GO:0042803, GO:0019901, GO:0017124, GO:0008237, GO:0008237, GO:0008237, GO:0005515, GO:0005178, GO:0005102, GO:0004222, GO:0004222, GO:0004222, GO:0004222, GO:0004175, GO:0004175, metalloendopeptidase activity involved in amyloid precursor protein catabolic process, metalloendopeptidase activity involved in amyloid precursor protein catabolic process, metal ion binding, protein homodimerization activity, protein kinase binding, SH3 domain binding, metallopeptidase activity, metallopeptidase activity, metallopeptidase activity, protein binding, integrin binding, signaling receptor binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, endopeptidase activity, GO:1901998, GO:1901342, GO:0099173, GO:0098696, GO:0097327, GO:0090102, GO:0071157, GO:0061001, GO:0051089, GO:0046931, GO:0044267, GO:0043687, GO:0043312, GO:0043066, GO:0043065, GO:0042987, GO:0042117, GO:0035333, GO:0034612, GO:0034332, GO:0034205, GO:0030335, GO:0030307, GO:0022617, GO:0016485, GO:0010820, GO:0010629, GO:0008593, GO:0008284, GO:0008284, GO:0007283, GO:0007267, GO:0007229, GO:0007219, GO:0007219, GO:0007162, GO:0007162, GO:0006509, GO:0006509, GO:0006509, GO:0006468, GO:0001701, toxin transport, regulation of vasculature development, postsynapse organization, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, response to antineoplastic agent, cochlea development, negative regulation of cell cycle arrest, regulation of dendritic spine morphogenesis, constitutive protein ectodomain proteolysis, pore complex assembly, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, negative regulation of apoptotic process, positive regulation of apoptotic process, amyloid precursor protein catabolic process, monocyte activation, Notch receptor processing, ligand-dependent, response to tumor necrosis factor, adherens junction organization, amyloid-beta formation, positive regulation of cell migration, positive regulation of cell growth, extracellular matrix disassembly, protein processing, positive regulation of T cell chemotaxis, negative regulation of gene expression, regulation of Notch signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, spermatogenesis, cell-cell signaling, integrin-mediated signaling pathway, Notch signaling pathway, Notch signaling pathway, negative regulation of cell adhesion, negative regulation of cell adhesion, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, protein phosphorylation, in utero embryonic development, 3011 2703 3270 1148 1822 1573 1223 1382 1327 ENSG00000137857 chr15 45129933 45165576 + DUOX1 protein_coding The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]. 53905 GO:0043020, GO:0031252, GO:0016324, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005783, NADPH oxidase complex, cell leading edge, apical plasma membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0050661, GO:0020037, GO:0016175, GO:0016174, GO:0005515, GO:0005509, GO:0004601, NADP binding, heme binding, superoxide-generating NAD(P)H oxidase activity, NAD(P)H oxidase H2O2-forming activity, protein binding, calcium ion binding, peroxidase activity, GO:2000147, GO:0098869, GO:0090303, GO:0055114, GO:0055114, GO:0051591, GO:0051591, GO:0050665, GO:0050665, GO:0042744, GO:0042554, GO:0042554, GO:0042446, GO:0042335, GO:0019221, GO:0006979, GO:0006952, GO:0006590, GO:0006590, positive regulation of cell motility, cellular oxidant detoxification, positive regulation of wound healing, oxidation-reduction process, oxidation-reduction process, response to cAMP, response to cAMP, hydrogen peroxide biosynthetic process, hydrogen peroxide biosynthetic process, hydrogen peroxide catabolic process, superoxide anion generation, superoxide anion generation, hormone biosynthetic process, cuticle development, cytokine-mediated signaling pathway, response to oxidative stress, defense response, thyroid hormone generation, thyroid hormone generation, 4 1 3 11 0 21 8 1 3 ENSG00000137860 chr15 45252230 45277845 + SLC28A2 protein_coding 9153 GO:0031526, GO:0030135, GO:0016020, GO:0012506, GO:0005887, GO:0005886, GO:0005886, brush border membrane, coated vesicle, membrane, vesicle membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1901474, GO:0015389, GO:0015293, GO:0015213, GO:0015211, GO:0015211, GO:0005415, GO:0005415, GO:0005415, GO:0005345, GO:0005337, GO:0005326, azole transmembrane transporter activity, pyrimidine- and adenine-specific:sodium symporter activity, symporter activity, uridine transmembrane transporter activity, purine nucleoside transmembrane transporter activity, purine nucleoside transmembrane transporter activity, nucleoside:sodium symporter activity, nucleoside:sodium symporter activity, nucleoside:sodium symporter activity, purine nucleobase transmembrane transporter activity, nucleoside transmembrane transporter activity, neurotransmitter transmembrane transporter activity, GO:1904823, GO:1901642, GO:1901642, GO:0150104, GO:0072531, GO:0045117, GO:0035340, GO:0032238, GO:0015862, GO:0015860, GO:0015855, GO:0006836, GO:0006139, GO:0001895, purine nucleobase transmembrane transport, nucleoside transmembrane transport, nucleoside transmembrane transport, transport across blood-brain barrier, pyrimidine-containing compound transmembrane transport, azole transmembrane transport, inosine transport, adenosine transport, uridine transport, purine nucleoside transmembrane transport, pyrimidine nucleobase transport, neurotransmitter transport, nucleobase-containing compound metabolic process, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000137868 chr15 74179466 74212267 - STRA6 protein_coding The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 64220 GO:0032991, GO:0005887, GO:0005886, GO:0005886, protein-containing complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0034632, GO:0019841, GO:0016918, signaling receptor activity, retinol transmembrane transporter activity, retinol binding, retinal binding, GO:0097070, GO:0071939, GO:0061205, GO:0061156, GO:0061143, GO:0061038, GO:0061029, GO:0060900, GO:0060539, GO:0060426, GO:0060325, GO:0060323, GO:0060322, GO:0050905, GO:0050890, GO:0048844, GO:0048745, GO:0048589, GO:0048566, GO:0048546, GO:0048520, GO:0048286, GO:0043585, GO:0043583, GO:0043010, GO:0042297, GO:0034633, GO:0030540, GO:0030325, GO:0030324, GO:0007631, GO:0007612, GO:0007507, GO:0003281, GO:0003184, GO:0001822, GO:0001568, GO:0001523, ductus arteriosus closure, vitamin A import, paramesonephric duct development, pulmonary artery morphogenesis, alveolar primary septum development, uterus morphogenesis, eyelid development in camera-type eye, embryonic camera-type eye formation, diaphragm development, lung vasculature development, face morphogenesis, head morphogenesis, head development, neuromuscular process, cognition, artery morphogenesis, smooth muscle tissue development, developmental growth, embryonic digestive tract development, digestive tract morphogenesis, positive regulation of behavior, lung alveolus development, nose morphogenesis, ear development, camera-type eye development, vocal learning, retinol transport, female genitalia development, adrenal gland development, lung development, feeding behavior, learning, heart development, ventricular septum development, pulmonary valve morphogenesis, kidney development, blood vessel development, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000137869 chr15 51208057 51338610 - CYP19A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]. 1588 GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0070330, GO:0070330, GO:0020037, GO:0019825, GO:0016712, GO:0009055, GO:0008395, GO:0005506, aromatase activity, aromatase activity, heme binding, oxygen binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, electron transfer activity, steroid hydroxylase activity, iron ion binding, GO:2000866, GO:0061370, GO:0060736, GO:0060065, GO:0032355, GO:0030879, GO:0030540, GO:0022900, GO:0016125, GO:0010760, GO:0008585, GO:0006710, GO:0006703, GO:0006694, GO:0002677, positive regulation of estradiol secretion, testosterone biosynthetic process, prostate gland growth, uterus development, response to estradiol, mammary gland development, female genitalia development, electron transport chain, sterol metabolic process, negative regulation of macrophage chemotaxis, female gonad development, androgen catabolic process, estrogen biosynthetic process, steroid biosynthetic process, negative regulation of chronic inflammatory response, 0 0 0 1 0 0 0 0 0 ENSG00000137871 chr15 56630181 56734086 - ZNF280D protein_coding 54816 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 36 41 52 89 40 79 77 42 56 ENSG00000137872 chr15 47184101 47774223 + SEMA6D protein_coding Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]. 80031 GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005615, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, extracellular space, GO:0045499, GO:0030215, chemorepellent activity, semaphorin receptor binding, GO:0071526, GO:0050919, GO:0048843, GO:0030335, GO:0021591, GO:0014912, GO:0014911, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, ventricular system development, negative regulation of smooth muscle cell migration, positive regulation of smooth muscle cell migration, axon guidance, neural crest cell migration, 0 0 0 0 0 2 0 0 0 ENSG00000137875 chr15 52109263 52112775 - BCL2L10 protein_coding The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]. 10017 GO:0044233, GO:0031965, GO:0016021, GO:0016020, GO:0005829, GO:0005783, GO:0005741, GO:0005739, mitochondria-associated endoplasmic reticulum membrane, nuclear membrane, integral component of membrane, membrane, cytosol, endoplasmic reticulum, mitochondrial outer membrane, mitochondrion, GO:0089720, GO:0046982, GO:0042803, GO:0005515, caspase binding, protein heterodimerization activity, protein homodimerization activity, protein binding, GO:2001243, GO:0097192, GO:0043066, GO:0008630, GO:0007292, GO:0007283, GO:0006919, GO:0006915, negative regulation of intrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage, female gamete generation, spermatogenesis, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 0 0 0 3 0 0 0 0 0 ENSG00000137876 chr15 55180806 55197067 - RSL24D1 protein_coding This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [provided by RefSeq, Jul 2012]. 51187 GO:0022625, GO:0005730, GO:0005654, cytosolic large ribosomal subunit, nucleolus, nucleoplasm, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:1902626, GO:0006412, GO:0000027, assembly of large subunit precursor of preribosome, translation, ribosomal large subunit assembly, 274 193 360 290 204 380 258 209 191 ENSG00000137877 chr15 41848144 41894077 - SPTBN5 protein_coding 51332 GO:0097381, GO:0032391, GO:0016020, GO:0008091, GO:0005829, GO:0005737, photoreceptor disc membrane, photoreceptor connecting cilium, membrane, spectrin, cytosol, cytoplasm, GO:0045505, GO:0043621, GO:0042802, GO:0034452, GO:0032029, GO:0030507, GO:0019894, GO:0003779, dynein intermediate chain binding, protein self-association, identical protein binding, dynactin binding, myosin tail binding, spectrin binding, kinesin binding, actin binding, GO:0051693, GO:0030036, GO:0007411, GO:0007041, GO:0007030, GO:0006888, GO:0000165, actin filament capping, actin cytoskeleton organization, axon guidance, lysosomal transport, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, MAPK cascade, 22 14 19 26 7 36 34 9 24 ENSG00000137878 chr15 57591908 57714745 + GCOM1 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013]. 145781 0 1 5 0 3 0 0 0 0 ENSG00000137880 chr15 40764020 40767710 + GCHFR protein_coding GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008]. 2644 GO:0042470, GO:0032991, GO:0031965, GO:0030425, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, melanosome, protein-containing complex, nuclear membrane, dendrite, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0044877, GO:0044549, GO:0030742, GO:0016597, GO:0005515, GO:0004857, protein-containing complex binding, GTP cyclohydrolase binding, GTP-dependent protein binding, amino acid binding, protein binding, enzyme inhibitor activity, GO:0065003, GO:0043105, GO:0042133, GO:0009890, GO:0006809, protein-containing complex assembly, negative regulation of GTP cyclohydrolase I activity, neurotransmitter metabolic process, negative regulation of biosynthetic process, nitric oxide biosynthetic process, 8 21 17 19 9 34 9 19 15 ENSG00000137936 chr1 93561786 93847150 - BCAR3 protein_coding Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 8412 GO:0016020, GO:0005925, GO:0005737, membrane, focal adhesion, cytoplasm, GO:0019900, GO:0005515, GO:0005085, GO:0001784, kinase binding, protein binding, guanyl-nucleotide exchange factor activity, phosphotyrosine residue binding, GO:0086100, GO:0045742, GO:0045740, GO:0043547, GO:0043410, GO:0042493, GO:0033138, GO:0008286, GO:0007264, GO:0007165, GO:0002089, endothelin receptor signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of DNA replication, positive regulation of GTPase activity, positive regulation of MAPK cascade, response to drug, positive regulation of peptidyl-serine phosphorylation, insulin receptor signaling pathway, small GTPase mediated signal transduction, signal transduction, lens morphogenesis in camera-type eye, 0 1 3 4 5 5 3 4 0 ENSG00000137941 chr1 83865028 83999150 - TTLL7 protein_coding 79739 GO:0043204, GO:0030425, GO:0005929, GO:0005874, GO:0005829, perikaryon, dendrite, cilium, microtubule, cytosol, GO:0070740, GO:0070740, GO:0048487, GO:0043014, GO:0015631, GO:0005524, tubulin-glutamic acid ligase activity, tubulin-glutamic acid ligase activity, beta-tubulin binding, alpha-tubulin binding, tubulin binding, ATP binding, GO:0030154, GO:0018095, GO:0018095, GO:0018095, GO:0007399, GO:0000226, cell differentiation, protein polyglutamylation, protein polyglutamylation, protein polyglutamylation, nervous system development, microtubule cytoskeleton organization, 4 0 2 1 5 0 0 1 3 ENSG00000137942 chr1 93448131 93554661 + FNBP1L protein_coding The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 54874 GO:0031410, GO:0005938, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, cytoplasmic vesicle, cell cortex, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, GO:0051020, GO:0045296, GO:0008289, GO:0005515, GTPase binding, cadherin binding, lipid binding, protein binding, GO:0097320, GO:0072583, GO:0061024, GO:0060271, GO:0051491, GO:0030050, GO:0016050, GO:0010324, GO:0007165, GO:0006914, GO:0006900, plasma membrane tubulation, clathrin-dependent endocytosis, membrane organization, cilium assembly, positive regulation of filopodium assembly, vesicle transport along actin filament, vesicle organization, membrane invagination, signal transduction, autophagy, vesicle budding from membrane, 23 18 9 14 7 13 13 4 2 ENSG00000137944 chr1 88935773 88992953 - KYAT3 protein_coding This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Mar 2017]. 56267 GO:0005739, GO:0005737, mitochondrion, cytoplasm, GO:0047804, GO:0047315, GO:0042803, GO:0030170, GO:0016212, GO:0016212, GO:0003723, cysteine-S-conjugate beta-lyase activity, kynurenine-glyoxylate transaminase activity, protein homodimerization activity, pyridoxal phosphate binding, kynurenine-oxoglutarate transaminase activity, kynurenine-oxoglutarate transaminase activity, RNA binding, GO:0097052, GO:0070189, GO:0009058, GO:0006520, GO:0006103, L-kynurenine metabolic process, kynurenine metabolic process, biosynthetic process, cellular amino acid metabolic process, 2-oxoglutarate metabolic process, 182 160 343 123 194 154 145 131 123 ENSG00000137947 chr1 88852932 88891944 - GTF2B protein_coding This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008]. 2959 GO:0097550, GO:0097550, GO:0090575, GO:0090575, GO:0032993, GO:0016604, GO:0005694, GO:0005669, GO:0005654, GO:0005654, GO:0005634, GO:0005634, transcription preinitiation complex, transcription preinitiation complex, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, protein-DNA complex, nuclear body, chromosome, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990841, GO:0046966, GO:0017025, GO:0017025, GO:0016407, GO:0016407, GO:0016251, GO:0016251, GO:0008270, GO:0008134, GO:0005515, GO:0004402, GO:0000993, GO:0000979, GO:0000979, promoter-specific chromatin binding, thyroid hormone receptor binding, TBP-class protein binding, TBP-class protein binding, acetyltransferase activity, acetyltransferase activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, zinc ion binding, transcription factor binding, protein binding, histone acetyltransferase activity, RNA polymerase II complex binding, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II core promoter sequence-specific DNA binding, GO:1990114, GO:1990114, GO:1904798, GO:0051123, GO:0051123, GO:0051123, GO:0042795, GO:0019083, GO:0019083, GO:0016573, GO:0006473, GO:0006473, GO:0006367, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006352, GO:0001174, GO:0001174, RNA polymerase II core complex assembly, RNA polymerase II core complex assembly, positive regulation of core promoter binding, RNA polymerase II preinitiation complex assembly, RNA polymerase II preinitiation complex assembly, RNA polymerase II preinitiation complex assembly, snRNA transcription by RNA polymerase II, viral transcription, viral transcription, histone acetylation, protein acetylation, protein acetylation, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, DNA-templated transcription, initiation, transcriptional start site selection at RNA polymerase II promoter, transcriptional start site selection at RNA polymerase II promoter, 409 379 545 373 392 364 323 243 292 ENSG00000137948 chr1 91949371 92014426 + BRDT protein_coding BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 676 GO:0005634, nucleus, GO:0070577, GO:0042393, GO:0003713, lysine-acetylated histone binding, histone binding, transcription coactivator activity, GO:0051039, GO:0043484, GO:0030154, GO:0008380, GO:0007283, GO:0007141, GO:0007140, GO:0006397, GO:0006355, GO:0006338, GO:0001207, positive regulation of transcription involved in meiotic cell cycle, regulation of RNA splicing, cell differentiation, RNA splicing, spermatogenesis, male meiosis I, male meiotic nuclear division, mRNA processing, regulation of transcription, DNA-templated, chromatin remodeling, histone displacement, 0 0 0 0 0 0 0 0 0 ENSG00000137955 chr1 75786197 75795079 + RABGGTB protein_coding This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]. 5876 GO:0005968, GO:0005968, GO:0005886, GO:0005829, Rab-protein geranylgeranyltransferase complex, Rab-protein geranylgeranyltransferase complex, plasma membrane, cytosol, GO:0031267, GO:0008270, GO:0005515, GO:0004663, GO:0004663, small GTPase binding, zinc ion binding, protein binding, Rab geranylgeranyltransferase activity, Rab geranylgeranyltransferase activity, GO:0043687, GO:0042981, GO:0018344, GO:0018344, GO:0018342, GO:0007601, GO:0006464, post-translational protein modification, regulation of apoptotic process, protein geranylgeranylation, protein geranylgeranylation, protein prenylation, visual perception, cellular protein modification process, 74 72 135 125 99 141 83 63 102 ENSG00000137959 chr1 78619922 78646145 + IFI44L protein_coding 10964 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0005525, GO:0003674, GTP binding, molecular_function, GO:0051607, GO:0006955, defense response to virus, immune response, 122 129 323 108 138 195 95 95 195 ENSG00000137960 chr1 77979542 78138449 + GIPC2 protein_coding 54810 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 1 0 ENSG00000137962 chr1 94148988 94275068 - ARHGAP29 protein_coding Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]. 9411 GO:0032991, GO:0005829, GO:0005737, GO:0005737, protein-containing complex, cytosol, cytoplasm, cytoplasm, GO:0046872, GO:0030165, GO:0005096, metal ion binding, PDZ domain binding, GTPase activator activity, GO:0090630, GO:0051056, GO:0007266, activation of GTPase activity, regulation of small GTPase mediated signal transduction, Rho protein signal transduction, 2 0 0 1 0 0 0 0 0 ENSG00000137965 chr1 78649796 78664078 + IFI44 protein_coding 10561 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0009617, GO:0009615, GO:0006955, response to bacterium, response to virus, immune response, 160 159 334 187 182 315 228 160 310 ENSG00000137968 chr1 75202131 75611116 - SLC44A5 protein_coding 204962 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, GO:0055085, GO:0006656, transmembrane transport, transmembrane transport, phosphatidylcholine biosynthetic process, 0 0 0 1 0 0 0 0 0 ENSG00000137970 chr1 96678874 96679620 - RPL7P9 processed_pseudogene 115 92 173 317 220 382 217 159 191 ENSG00000137975 chr1 86424086 86456558 + CLCA2 protein_coding This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. The encoded protein is autoproteolytically processed to generate N- and C- terminal fragments. Expression of this gene is upregulated by the tumor suppressor protein p53 in response to DNA damage. In breast cancer, expression of this gene is downregulated and the encoded protein may inhibit migration and invasion while promoting mesenchymal-to-epithelial transition in cancer cell lines. [provided by RefSeq, Sep 2016]. 9635 GO:0031965, GO:0030054, GO:0009925, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005654, GO:0005576, nuclear membrane, cell junction, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, extracellular region, GO:0046872, GO:0015276, GO:0008237, GO:0005254, GO:0005229, metal ion binding, ligand-gated ion channel activity, metallopeptidase activity, chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0034220, GO:0007155, GO:0006508, chloride transmembrane transport, ion transmembrane transport, cell adhesion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000137976 chr1 84398532 84415018 + DNASE2B protein_coding The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 58511 GO:0005764, GO:0005576, lysosome, extracellular region, GO:0004531, deoxyribonuclease II activity, GO:0006309, apoptotic DNA fragmentation, 0 0 0 0 0 0 0 0 0 ENSG00000137992 chr1 100186919 100249834 - DBT protein_coding The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 1629 GO:0042645, GO:0005947, GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial nucleoid, mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0043754, GO:0031625, GO:0031405, GO:0016407, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity, ubiquitin protein ligase binding, lipoic acid binding, acetyltransferase activity, GO:0009083, branched-chain amino acid catabolic process, 35 54 46 45 69 44 57 37 34 ENSG00000137996 chr1 100266207 100292769 + RTCA protein_coding This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 8634 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0005524, GO:0003963, GO:0003723, ATP binding, RNA-3'-phosphate cyclase activity, RNA binding, GO:0006396, RNA processing, 76 119 108 101 160 186 134 127 111 ENSG00000138002 chr2 27444371 27489789 - IFT172 protein_coding This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]. 26160 GO:1903561, GO:0097598, GO:0097542, GO:0097228, GO:0097225, GO:0036064, GO:0030992, GO:0030992, GO:0005930, GO:0005929, GO:0005929, extracellular vesicle, sperm cytoplasmic droplet, ciliary tip, sperm principal piece, sperm midpiece, ciliary basal body, intraciliary transport particle B, intraciliary transport particle B, axoneme, cilium, cilium, GO:1905515, GO:0070986, GO:0061525, GO:0060348, GO:0060271, GO:0060271, GO:0060173, GO:0060021, GO:0050680, GO:0045880, GO:0042073, GO:0035735, GO:0031122, GO:0021522, GO:0016485, GO:0009953, GO:0008544, GO:0007420, GO:0007224, GO:0007219, GO:0001947, GO:0001843, non-motile cilium assembly, left/right axis specification, hindgut development, bone development, cilium assembly, cilium assembly, limb development, roof of mouth development, negative regulation of epithelial cell proliferation, positive regulation of smoothened signaling pathway, intraciliary transport, intraciliary transport involved in cilium assembly, cytoplasmic microtubule organization, spinal cord motor neuron differentiation, protein processing, dorsal/ventral pattern formation, epidermis development, brain development, smoothened signaling pathway, Notch signaling pathway, heart looping, neural tube closure, 22 25 37 37 41 37 40 22 23 ENSG00000138018 chr2 26308547 26395891 + SELENOI protein_coding The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]. 85465 GO:0016021, GO:0005794, GO:0005789, GO:0005789, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0046872, GO:0004307, GO:0004307, GO:0004307, metal ion binding, ethanolaminephosphotransferase activity, ethanolaminephosphotransferase activity, ethanolaminephosphotransferase activity, GO:0006646, GO:0006646, GO:0006646, GO:0006646, GO:0006646, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, 88 88 127 126 64 145 84 66 56 ENSG00000138028 chr2 27098889 27119115 - CGREF1 protein_coding 10669 GO:0005576, extracellular region, GO:0005509, calcium ion binding, GO:0008285, GO:0007155, GO:0007050, negative regulation of cell population proliferation, cell adhesion, cell cycle arrest, 1 0 0 1 1 0 4 1 0 ENSG00000138029 chr2 26243170 26290468 + HADHB protein_coding This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]. 3032 GO:0042645, GO:0005783, GO:0005743, GO:0005743, GO:0005741, GO:0005740, GO:0005739, GO:0005739, GO:0005739, mitochondrial nucleoid, endoplasmic reticulum, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrial envelope, mitochondrion, mitochondrion, mitochondrion, GO:0050633, GO:0005515, GO:0004300, GO:0003857, GO:0003723, acetyl-CoA C-myristoyltransferase activity, protein binding, enoyl-CoA hydratase activity, 3-hydroxyacyl-CoA dehydrogenase activity, RNA binding, GO:0035965, GO:0006635, GO:0006635, GO:0006635, cardiolipin acyl-chain remodeling, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, 677 530 633 599 743 678 713 590 582 ENSG00000138030 chr2 27086747 27100772 + KHK protein_coding This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 3795 GO:0070062, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, cytosol, cytoplasm, cytoplasm, GO:0005524, GO:0005515, GO:0004454, GO:0004454, ATP binding, protein binding, ketohexokinase activity, ketohexokinase activity, GO:0070873, GO:0061624, GO:0046835, GO:0032868, GO:0010043, GO:0009750, GO:0009749, GO:0009744, GO:0006000, regulation of glycogen metabolic process, fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate, carbohydrate phosphorylation, response to insulin, response to zinc ion, response to fructose, response to glucose, response to sucrose, fructose metabolic process, 1 1 0 2 0 7 4 1 2 ENSG00000138031 chr2 24819169 24919839 - ADCY3 protein_coding This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 109 GO:0016021, GO:0016020, GO:0005929, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005737, integral component of membrane, membrane, cilium, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, cytoplasm, GO:0046872, GO:0005524, GO:0005516, GO:0004016, GO:0004016, metal ion binding, ATP binding, calmodulin binding, adenylate cyclase activity, adenylate cyclase activity, GO:1904322, GO:0071377, GO:0034199, GO:0030317, GO:0008355, GO:0007608, GO:0007340, GO:0007338, GO:0007193, GO:0007190, GO:0007189, GO:0007189, GO:0007189, GO:0007186, GO:0007165, GO:0006171, GO:0006171, GO:0003091, cellular response to forskolin, cellular response to glucagon stimulus, activation of protein kinase A activity, flagellated sperm motility, olfactory learning, sensory perception of smell, acrosome reaction, single fertilization, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cAMP biosynthetic process, cAMP biosynthetic process, renal water homeostasis, 11 25 22 54 9 50 39 6 46 ENSG00000138032 chr2 44167969 44244384 + PPM1B protein_coding The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008]. 5495 GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005730, GO:0005634, membrane, cytosol, cytosol, cytosol, cytosol, nucleolus, nucleus, GO:0106307, GO:0106306, GO:0030145, GO:0005515, GO:0004722, GO:0000287, protein threonine phosphatase activity, protein serine phosphatase activity, manganese ion binding, protein binding, protein serine/threonine phosphatase activity, magnesium ion binding, GO:1901223, GO:0090263, GO:0050687, GO:0043124, GO:0043124, GO:0035970, GO:0032688, GO:0006499, GO:0006470, negative regulation of NIK/NF-kappaB signaling, positive regulation of canonical Wnt signaling pathway, negative regulation of defense response to virus, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of I-kappaB kinase/NF-kappaB signaling, peptidyl-threonine dephosphorylation, negative regulation of interferon-beta production, N-terminal protein myristoylation, protein dephosphorylation, 404 413 563 296 444 483 379 352 366 ENSG00000138035 chr2 55634265 55693910 - PNPT1 protein_coding The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]. 87178 GO:0045025, GO:0042788, GO:0005829, GO:0005829, GO:0005789, GO:0005759, GO:0005758, GO:0005739, GO:0005739, GO:0005737, GO:0005634, mitochondrial degradosome, polysomal ribosome, cytosol, cytosol, endoplasmic reticulum membrane, mitochondrial matrix, mitochondrial intermembrane space, mitochondrion, mitochondrion, cytoplasm, nucleus, GO:0035198, GO:0034046, GO:0008266, GO:0005515, GO:0004654, GO:0004654, GO:0003723, GO:0000175, GO:0000175, miRNA binding, poly(G) binding, poly(U) RNA binding, protein binding, polyribonucleotide nucleotidyltransferase activity, polyribonucleotide nucleotidyltransferase activity, RNA binding, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:2000772, GO:2000627, GO:0097421, GO:0097222, GO:0090503, GO:0071850, GO:0071042, GO:0070584, GO:0070207, GO:0061014, GO:0060416, GO:0051591, GO:0051260, GO:0045926, GO:0043631, GO:0043457, GO:0035928, GO:0035927, GO:0035458, GO:0034599, GO:0006402, GO:0006401, GO:0006401, GO:0000965, GO:0000965, GO:0000964, GO:0000962, GO:0000958, GO:0000958, GO:0000957, regulation of cellular senescence, positive regulation of miRNA catabolic process, liver regeneration, mitochondrial mRNA polyadenylation, RNA phosphodiester bond hydrolysis, exonucleolytic, mitotic cell cycle arrest, nuclear polyadenylation-dependent mRNA catabolic process, mitochondrion morphogenesis, protein homotrimerization, positive regulation of mRNA catabolic process, response to growth hormone, response to cAMP, protein homooligomerization, negative regulation of growth, RNA polyadenylation, regulation of cellular respiration, rRNA import into mitochondrion, RNA import into mitochondrion, cellular response to interferon-beta, cellular response to oxidative stress, mRNA catabolic process, RNA catabolic process, RNA catabolic process, mitochondrial RNA 3'-end processing, mitochondrial RNA 3'-end processing, mitochondrial RNA 5'-end processing, positive regulation of mitochondrial RNA catabolic process, mitochondrial mRNA catabolic process, mitochondrial mRNA catabolic process, mitochondrial RNA catabolic process, 35 51 84 73 42 62 103 40 60 ENSG00000138036 chr2 43774039 43810010 + DYNC2LI1 protein_coding This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]. 51626 GO:0097542, GO:0045177, GO:0036064, GO:0036064, GO:0036064, GO:0035869, GO:0031514, GO:0030990, GO:0005930, GO:0005930, GO:0005929, GO:0005929, GO:0005881, GO:0005868, GO:0005868, GO:0005868, GO:0005813, GO:0005737, ciliary tip, apical part of cell, ciliary basal body, ciliary basal body, ciliary basal body, ciliary transition zone, motile cilium, intraciliary transport particle, axoneme, axoneme, cilium, cilium, cytoplasmic microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, cytoplasmic dynein complex, centrosome, cytoplasm, GO:0045504, GO:0045504, GO:0005515, GO:0003774, dynein heavy chain binding, dynein heavy chain binding, protein binding, motor activity, GO:1902017, GO:0035735, GO:0035735, GO:0035735, GO:0035721, GO:0007368, regulation of cilium assembly, intraciliary transport involved in cilium assembly, intraciliary transport involved in cilium assembly, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, determination of left/right symmetry, 1 0 4 3 9 21 2 6 1 ENSG00000138039 chr2 48686775 48755730 - LHCGR protein_coding This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]. 3973 GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005768, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endosome, GO:0038106, GO:0035472, GO:0008528, GO:0004964, GO:0004964, choriogonadotropin hormone binding, choriogonadotropin hormone receptor activity, G protein-coupled peptide receptor activity, luteinizing hormone receptor activity, luteinizing hormone receptor activity, GO:0071373, GO:0071371, GO:0050890, GO:0042700, GO:0042700, GO:0032962, GO:0030539, GO:0022602, GO:0009755, GO:0008584, GO:0007200, GO:0007200, GO:0007190, GO:0007190, GO:0007189, GO:0007189, GO:0007187, GO:0007186, GO:0001541, cellular response to luteinizing hormone stimulus, cellular response to gonadotropin stimulus, cognition, luteinizing hormone signaling pathway, luteinizing hormone signaling pathway, positive regulation of inositol trisphosphate biosynthetic process, male genitalia development, ovulation cycle process, hormone-mediated signaling pathway, male gonad development, phospholipase C-activating G protein-coupled receptor signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, ovarian follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000138050 chr2 39736060 39779267 - THUMPD2 protein_coding 80745 GO:0016423, GO:0005515, GO:0003723, tRNA (guanine) methyltransferase activity, protein binding, RNA binding, GO:0030488, tRNA methylation, 10 4 14 13 9 23 10 6 14 ENSG00000138061 chr2 38066973 38109902 - CYP1B1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]. 1545 GO:0043231, GO:0005789, GO:0005739, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, mitochondrion, GO:0106256, GO:0101020, GO:0070330, GO:0020037, GO:0020037, GO:0019825, GO:0016712, GO:0005506, GO:0004497, GO:0004497, GO:0004497, hydroperoxy icosatetraenoate dehydratase activity, estrogen 16-alpha-hydroxylase activity, aromatase activity, heme binding, heme binding, oxygen binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, iron ion binding, monooxygenase activity, monooxygenase activity, monooxygenase activity, GO:2000377, GO:0097267, GO:0071603, GO:0071407, GO:0070301, GO:0061304, GO:0055114, GO:0048514, GO:0046466, GO:0046427, GO:0045766, GO:0043542, GO:0043065, GO:0042574, GO:0042572, GO:0042572, GO:0033629, GO:0032088, GO:0030336, GO:0030199, GO:0019373, GO:0019369, GO:0016125, GO:0010575, GO:0009636, GO:0009404, GO:0008631, GO:0008285, GO:0008210, GO:0008202, GO:0007601, GO:0007155, GO:0006809, GO:0006805, GO:0006725, GO:0002930, GO:0001525, regulation of reactive oxygen species metabolic process, omega-hydroxylase P450 pathway, endothelial cell-cell adhesion, cellular response to organic cyclic compound, cellular response to hydrogen peroxide, retinal blood vessel morphogenesis, oxidation-reduction process, blood vessel morphogenesis, membrane lipid catabolic process, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of angiogenesis, endothelial cell migration, positive regulation of apoptotic process, retinal metabolic process, retinol metabolic process, retinol metabolic process, negative regulation of cell adhesion mediated by integrin, negative regulation of NF-kappaB transcription factor activity, negative regulation of cell migration, collagen fibril organization, epoxygenase P450 pathway, arachidonic acid metabolic process, sterol metabolic process, positive regulation of vascular endothelial growth factor production, response to toxic substance, toxin metabolic process, intrinsic apoptotic signaling pathway in response to oxidative stress, negative regulation of cell population proliferation, estrogen metabolic process, steroid metabolic process, visual perception, cell adhesion, nitric oxide biosynthetic process, xenobiotic metabolic process, cellular aromatic compound metabolic process, trabecular meshwork development, angiogenesis, 95 156 339 119 205 174 77 86 106 ENSG00000138068 chr2 37167820 37196598 - SULT6B1 protein_coding 391365 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0008146, GO:0008146, sulfotransferase activity, sulfotransferase activity, GO:0051923, GO:0050427, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 0 1 1 0 0 0 0 0 0 ENSG00000138069 chr2 65070696 65130331 - RAB1A protein_coding This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008]. 5861 GO:0070062, GO:0042470, GO:0030658, GO:0012505, GO:0005829, GO:0005794, GO:0005783, GO:0005769, GO:0000139, extracellular exosome, melanosome, transport vesicle membrane, endomembrane system, cytosol, Golgi apparatus, endoplasmic reticulum, early endosome, Golgi membrane, GO:0045296, GO:0005525, GO:0005515, GO:0003924, GO:0003924, cadherin binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1904668, GO:1903020, GO:0090557, GO:0090110, GO:0060271, GO:0048208, GO:0047496, GO:0043687, GO:0042742, GO:0034446, GO:0032637, GO:0032402, GO:0030252, GO:0019068, GO:0019068, GO:0016477, GO:0016192, GO:0007030, GO:0006914, GO:0006897, GO:0006890, GO:0006888, GO:0006888, GO:0006888, GO:0006886, GO:0000045, GO:0000045, positive regulation of ubiquitin protein ligase activity, positive regulation of glycoprotein metabolic process, establishment of endothelial intestinal barrier, COPII-coated vesicle cargo loading, cilium assembly, COPII vesicle coating, vesicle transport along microtubule, post-translational protein modification, defense response to bacterium, substrate adhesion-dependent cell spreading, interleukin-8 production, melanosome transport, growth hormone secretion, virion assembly, virion assembly, cell migration, vesicle-mediated transport, Golgi organization, autophagy, endocytosis, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, autophagosome assembly, autophagosome assembly, 3006 2614 4410 4332 4421 5679 4491 3274 4371 ENSG00000138071 chr2 65227753 65271253 + ACTR2 protein_coding The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10097 GO:1904813, GO:0071437, GO:0070062, GO:0061825, GO:0035861, GO:0035578, GO:0030478, GO:0030027, GO:0016020, GO:0015629, GO:0014069, GO:0005925, GO:0005885, GO:0005885, GO:0005885, GO:0005829, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, invadopodium, extracellular exosome, podosome core, site of double-strand break, azurophil granule lumen, actin cap, lamellipodium, membrane, actin cytoskeleton, postsynaptic density, focal adhesion, Arp2/3 protein complex, Arp2/3 protein complex, Arp2/3 protein complex, cytosol, cytoplasm, nucleus, extracellular region, GO:0051015, GO:0051015, GO:0005524, GO:0005515, GO:0005200, actin filament binding, actin filament binding, ATP binding, protein binding, structural constituent of cytoskeleton, GO:2001032, GO:1905168, GO:0071346, GO:0061024, GO:0061003, GO:0060271, GO:0051653, GO:0048013, GO:0045944, GO:0045471, GO:0043312, GO:0038096, GO:0035984, GO:0035902, GO:0034314, GO:0034314, GO:0033206, GO:0016482, GO:0016344, GO:0010592, GO:0008356, GO:0008306, GO:0007163, regulation of double-strand break repair via nonhomologous end joining, positive regulation of double-strand break repair via homologous recombination, cellular response to interferon-gamma, membrane organization, positive regulation of dendritic spine morphogenesis, cilium assembly, spindle localization, ephrin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, response to ethanol, neutrophil degranulation, Fc-gamma receptor signaling pathway involved in phagocytosis, cellular response to trichostatin A, response to immobilization stress, Arp2/3 complex-mediated actin nucleation, Arp2/3 complex-mediated actin nucleation, meiotic cytokinesis, cytosolic transport, meiotic chromosome movement towards spindle pole, positive regulation of lamellipodium assembly, asymmetric cell division, associative learning, establishment or maintenance of cell polarity, 9653 8454 11911 2175 4073 3733 3029 4272 3447 ENSG00000138073 chr2 27130756 27134675 - PREB protein_coding This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]. 10113 GO:0070971, GO:0030176, GO:0030176, GO:0016020, GO:0005789, GO:0005634, GO:0000139, endoplasmic reticulum exit site, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, nucleus, Golgi membrane, GO:0005515, GO:0005096, GO:0005085, GO:0005085, GO:0005085, GO:0003677, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, DNA binding, GO:0048208, GO:0048208, GO:0043547, GO:0036498, GO:0032527, GO:0009306, GO:0006888, GO:0006888, GO:0003400, COPII vesicle coating, COPII vesicle coating, positive regulation of GTPase activity, IRE1-mediated unfolded protein response, protein exit from endoplasmic reticulum, protein secretion, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, regulation of COPII vesicle coating, 172 183 233 92 139 124 116 112 87 ENSG00000138074 chr2 27199587 27212958 - SLC5A6 protein_coding 8884 GO:0031526, GO:0016324, GO:0016323, GO:0016020, GO:0012506, GO:0009925, GO:0005887, GO:0005886, GO:0005886, brush border membrane, apical plasma membrane, basolateral plasma membrane, membrane, vesicle membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015293, GO:0015233, GO:0015225, GO:0008523, symporter activity, pantothenate transmembrane transporter activity, biotin transmembrane transporter activity, sodium-dependent multivitamin transmembrane transporter activity, GO:1905135, GO:0150104, GO:0150104, GO:0055085, GO:0015939, GO:0015887, GO:0015887, GO:0015878, GO:0006814, GO:0006768, biotin import across plasma membrane, transport across blood-brain barrier, transport across blood-brain barrier, transmembrane transport, pantothenate metabolic process, pantothenate transmembrane transport, pantothenate transmembrane transport, biotin transport, sodium ion transport, biotin metabolic process, 49 68 92 101 62 101 83 42 99 ENSG00000138075 chr2 43812472 43838865 - ABCG5 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]. 64240 GO:0043235, GO:0043190, GO:0016324, GO:0016324, GO:0005887, GO:0005886, receptor complex, ATP-binding cassette (ABC) transporter complex, apical plasma membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, GO:0120020, GO:0046982, GO:0046872, GO:0042626, GO:0016887, GO:0005524, GO:0005515, cholesterol transfer activity, protein heterodimerization activity, metal ion binding, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, protein binding, GO:0120009, GO:0070328, GO:0055085, GO:0045796, GO:0042632, GO:0042632, GO:0042493, GO:0038183, GO:0033344, GO:0033344, GO:0030299, GO:0015918, GO:0014850, GO:0010949, GO:0010212, GO:0007588, GO:0007584, intermembrane lipid transfer, triglyceride homeostasis, transmembrane transport, negative regulation of intestinal cholesterol absorption, cholesterol homeostasis, cholesterol homeostasis, response to drug, bile acid signaling pathway, cholesterol efflux, cholesterol efflux, intestinal cholesterol absorption, sterol transport, response to muscle activity, negative regulation of intestinal phytosterol absorption, response to ionizing radiation, excretion, response to nutrient, 0 0 0 0 0 0 0 0 0 ENSG00000138078 chr2 44316281 44361862 - PREPL protein_coding The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]. 9581 GO:0005856, GO:0005829, GO:0005802, GO:0005794, GO:0005634, cytoskeleton, cytosol, trans-Golgi network, Golgi apparatus, nucleus, GO:0008233, GO:0008233, GO:0004252, peptidase activity, peptidase activity, serine-type endopeptidase activity, GO:2000300, GO:0043001, GO:0042147, GO:0006508, regulation of synaptic vesicle exocytosis, Golgi to plasma membrane protein transport, retrograde transport, endosome to Golgi, proteolysis, 96 114 168 184 138 193 191 109 158 ENSG00000138079 chr2 44275458 44321494 + SLC3A1 protein_coding This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 6519 GO:0070062, GO:0031526, GO:0016020, GO:0005887, GO:0005886, GO:0005774, extracellular exosome, brush border membrane, membrane, integral component of plasma membrane, plasma membrane, vacuolar membrane, GO:0044877, GO:0015184, GO:0015174, GO:0015171, GO:0005515, GO:0003824, protein-containing complex binding, L-cystine transmembrane transporter activity, basic amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, catalytic activity, GO:1990822, GO:0015811, GO:0015802, GO:0006865, GO:0006865, GO:0005975, basic amino acid transmembrane transport, L-cystine transport, basic amino acid transport, amino acid transport, amino acid transport, carbohydrate metabolic process, 17 23 31 40 40 31 42 40 39 ENSG00000138080 chr2 27078567 27086408 + EMILIN1 protein_coding This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]. 11117 GO:1990971, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0034668, GO:0005615, GO:0005581, GO:0005576, EMILIN complex, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, integrin alpha4-beta1 complex, extracellular space, collagen trimer, extracellular region, GO:0098640, GO:0042802, GO:0030023, GO:0030023, GO:0005515, GO:0005201, integrin binding involved in cell-matrix adhesion, identical protein binding, extracellular matrix constituent conferring elasticity, extracellular matrix constituent conferring elasticity, protein binding, extracellular matrix structural constituent, GO:1905522, GO:1904027, GO:1901203, GO:0070373, GO:0060394, GO:0050866, GO:0048251, GO:0032966, GO:0030948, GO:0030512, GO:0016525, GO:0016477, GO:0010811, GO:0010629, GO:0010628, GO:0007160, GO:0007155, GO:0003180, negative regulation of macrophage migration, negative regulation of collagen fibril organization, positive regulation of extracellular matrix assembly, negative regulation of ERK1 and ERK2 cascade, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of cell activation, elastic fiber assembly, negative regulation of collagen biosynthetic process, negative regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of angiogenesis, cell migration, positive regulation of cell-substrate adhesion, negative regulation of gene expression, positive regulation of gene expression, cell-matrix adhesion, cell adhesion, aortic valve morphogenesis, 1 1 0 5 1 1 2 0 0 ENSG00000138081 chr2 47789316 47905793 - FBXO11 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]. 80204 GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005694, GO:0005654, GO:0005634, GO:0000151, cytosol, cytosol, cytoplasm, nucleolus, chromosome, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0016274, GO:0008270, GO:0005515, GO:0004842, protein-arginine N-methyltransferase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0043687, GO:0042981, GO:0035246, GO:0016567, GO:0016567, GO:0007605, GO:0006511, GO:0006511, GO:0006464, GO:0000209, post-translational protein modification, regulation of apoptotic process, peptidyl-arginine N-methylation, protein ubiquitination, protein ubiquitination, sensory perception of sound, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, cellular protein modification process, protein polyubiquitination, 1593 1383 2102 1101 1317 1275 1028 890 1054 ENSG00000138083 chr2 44941898 44946077 + SIX3 protein_coding This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]. 6496 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:1990837, GO:0042826, GO:0005515, GO:0001228, GO:0001222, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, histone deacetylase binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, transcription corepressor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000177, GO:1990086, GO:1902742, GO:1902692, GO:1901987, GO:0097402, GO:0070306, GO:0061074, GO:0060235, GO:0048512, GO:0045944, GO:0045892, GO:0045665, GO:0042127, GO:0030178, GO:0021983, GO:0021978, GO:0021846, GO:0021798, GO:0021797, GO:0021537, GO:0014016, GO:0009946, GO:0007601, GO:0007420, GO:0006606, GO:0006357, GO:0003404, GO:0002088, GO:0002070, GO:0001654, GO:0001654, regulation of neural precursor cell proliferation, lens fiber cell apoptotic process, apoptotic process involved in development, regulation of neuroblast proliferation, regulation of cell cycle phase transition, neuroblast migration, lens fiber cell differentiation, regulation of neural retina development, lens induction in camera-type eye, circadian behavior, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of neuron differentiation, regulation of cell population proliferation, negative regulation of Wnt signaling pathway, pituitary gland development, telencephalon regionalization, cell proliferation in forebrain, forebrain dorsal/ventral pattern formation, forebrain anterior/posterior pattern specification, telencephalon development, neuroblast differentiation, proximal/distal axis specification, visual perception, brain development, protein import into nucleus, regulation of transcription by RNA polymerase II, optic vesicle morphogenesis, lens development in camera-type eye, epithelial cell maturation, eye development, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000138085 chr2 27212027 27217178 + ATRAID protein_coding This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]. 51374 GO:0048471, GO:0016021, GO:0005886, GO:0005765, GO:0005635, perinuclear region of cytoplasm, integral component of membrane, plasma membrane, lysosomal membrane, nuclear envelope, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1903363, GO:0045669, GO:0033689, GO:0030501, GO:0030154, GO:0010468, negative regulation of cellular protein catabolic process, positive regulation of osteoblast differentiation, negative regulation of osteoblast proliferation, positive regulation of bone mineralization, cell differentiation, regulation of gene expression, 90 106 114 117 70 117 78 71 115 ENSG00000138092 chr2 24793136 24822376 + CENPO protein_coding This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 79172 GO:0031511, GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0000778, Mis6-Sim4 complex, nuclear body, cytosol, nucleoplasm, nucleoplasm, condensed nuclear chromosome kinetochore, GO:0005515, protein binding, GO:0034080, CENP-A containing nucleosome assembly, 15 25 41 59 24 75 36 19 36 ENSG00000138095 chr2 43886508 43996005 - LRPPRC protein_coding This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]. 10128 GO:1990904, GO:0048471, GO:0042645, GO:0016020, GO:0005874, GO:0005856, GO:0005739, GO:0005739, GO:0005654, GO:0005640, GO:0005637, GO:0005634, GO:0000794, ribonucleoprotein complex, perinuclear region of cytoplasm, mitochondrial nucleoid, membrane, microtubule, cytoskeleton, mitochondrion, mitochondrion, nucleoplasm, nuclear outer membrane, nuclear inner membrane, nucleus, condensed nuclear chromosome, GO:0051015, GO:0048487, GO:0031625, GO:0008017, GO:0005515, GO:0003723, GO:0003723, GO:0003697, actin filament binding, beta-tubulin binding, ubiquitin protein ligase binding, microtubule binding, protein binding, RNA binding, RNA binding, single-stranded DNA binding, GO:0070129, GO:0051028, GO:0047497, GO:0000961, regulation of mitochondrial translation, mRNA transport, mitochondrion transport along microtubule, negative regulation of mitochondrial RNA catabolic process, 58 50 131 214 100 202 179 62 134 ENSG00000138100 chr2 27282392 27307439 + TRIM54 protein_coding The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 57159 GO:0030018, GO:0005875, GO:0005874, GO:0005737, Z disc, microtubule associated complex, microtubule, cytoplasm, GO:0061630, GO:0008270, GO:0008017, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, microtubule binding, protein binding, GO:0030154, GO:0016567, GO:0007275, GO:0007165, GO:0007026, GO:0007017, cell differentiation, protein ubiquitination, multicellular organism development, signal transduction, negative regulation of microtubule depolymerization, microtubule-based process, 1 0 0 0 1 0 0 0 0 ENSG00000138101 chr2 25377198 25673647 - DTNB protein_coding This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]. 1838 GO:0045202, GO:0005886, GO:0005737, synapse, plasma membrane, cytoplasm, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0099536, synaptic signaling, 48 50 68 50 57 60 78 45 37 ENSG00000138107 chr10 102461881 102502711 - ACTR1A protein_coding This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]. 10121 GO:0099738, GO:0070062, GO:0030137, GO:0015630, GO:0005875, GO:0005869, GO:0005829, GO:0005814, GO:0005813, GO:0005737, GO:0002177, cell cortex region, extracellular exosome, COPI-coated vesicle, microtubule cytoskeleton, microtubule associated complex, dynactin complex, cytosol, centriole, centrosome, cytoplasm, manchette, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0097711, GO:0019886, GO:0016192, GO:0010389, GO:0007283, GO:0006888, GO:0000086, ciliary basal body-plasma membrane docking, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, regulation of G2/M transition of mitotic cell cycle, spermatogenesis, endoplasmic reticulum to Golgi vesicle-mediated transport, G2/M transition of mitotic cell cycle, 810 783 1053 347 662 598 461 586 482 ENSG00000138109 chr10 94938658 94989391 + CYP2C9 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]. 1559 GO:0043231, GO:0043231, GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0070330, GO:0052741, GO:0034875, GO:0020037, GO:0018676, GO:0018675, GO:0016712, GO:0016491, GO:0008395, GO:0008395, GO:0008392, GO:0008392, GO:0008144, GO:0005506, GO:0004497, GO:0004497, aromatase activity, (R)-limonene 6-monooxygenase activity, caffeine oxidase activity, heme binding, (S)-limonene 7-monooxygenase activity, (S)-limonene 6-monooxygenase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, steroid hydroxylase activity, steroid hydroxylase activity, arachidonic acid epoxygenase activity, arachidonic acid epoxygenase activity, drug binding, iron ion binding, monooxygenase activity, monooxygenase activity, GO:0097267, GO:0070989, GO:0055114, GO:0055114, GO:0046456, GO:0043603, GO:0042759, GO:0042738, GO:0042738, GO:0042737, GO:0032787, GO:0019627, GO:0019373, GO:0019373, GO:0019373, GO:0017144, GO:0017144, GO:0016098, GO:0008210, GO:0008203, GO:0008202, GO:0006805, GO:0006805, GO:0006082, omega-hydroxylase P450 pathway, oxidative demethylation, oxidation-reduction process, oxidation-reduction process, icosanoid biosynthetic process, cellular amide metabolic process, long-chain fatty acid biosynthetic process, exogenous drug catabolic process, exogenous drug catabolic process, drug catabolic process, monocarboxylic acid metabolic process, urea metabolic process, epoxygenase P450 pathway, epoxygenase P450 pathway, epoxygenase P450 pathway, drug metabolic process, drug metabolic process, monoterpenoid metabolic process, estrogen metabolic process, cholesterol metabolic process, steroid metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000138111 chr10 102461395 102477045 + MFSD13A protein_coding 79847 GO:0016021, integral component of membrane, GO:0005515, protein binding, 38 56 43 47 75 75 80 54 85 ENSG00000138115 chr10 95036772 95069497 - CYP2C8 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 1558 GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0101020, GO:0070330, GO:0034875, GO:0020037, GO:0016712, GO:0008401, GO:0008395, GO:0008392, GO:0008392, GO:0005515, GO:0005506, GO:0004497, estrogen 16-alpha-hydroxylase activity, aromatase activity, caffeine oxidase activity, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, retinoic acid 4-hydroxylase activity, steroid hydroxylase activity, arachidonic acid epoxygenase activity, arachidonic acid epoxygenase activity, protein binding, iron ion binding, monooxygenase activity, GO:0097267, GO:0070989, GO:0055114, GO:0055114, GO:0046456, GO:0042759, GO:0042738, GO:0042738, GO:0042573, GO:0042572, GO:0019373, GO:0019373, GO:0019373, GO:0017144, GO:0008210, GO:0008202, GO:0006805, GO:0006805, GO:0006082, GO:0006082, GO:0002933, omega-hydroxylase P450 pathway, oxidative demethylation, oxidation-reduction process, oxidation-reduction process, icosanoid biosynthetic process, long-chain fatty acid biosynthetic process, exogenous drug catabolic process, exogenous drug catabolic process, retinoic acid metabolic process, retinol metabolic process, epoxygenase P450 pathway, epoxygenase P450 pathway, epoxygenase P450 pathway, drug metabolic process, estrogen metabolic process, steroid metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, organic acid metabolic process, lipid hydroxylation, 0 4 0 0 0 0 0 0 0 ENSG00000138119 chr10 93306429 93482317 - MYOF protein_coding Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]. 26509 GO:0070062, GO:0043231, GO:0031965, GO:0031410, GO:0030659, GO:0016021, GO:0005901, GO:0005886, GO:0005886, GO:0005635, extracellular exosome, intracellular membrane-bounded organelle, nuclear membrane, cytoplasmic vesicle, cytoplasmic vesicle membrane, integral component of membrane, caveola, plasma membrane, plasma membrane, nuclear envelope, GO:0046872, GO:0005543, GO:0005543, GO:0005543, GO:0005515, metal ion binding, phospholipid binding, phospholipid binding, phospholipid binding, protein binding, GO:0061025, GO:0048747, GO:0034605, GO:0033292, GO:0030947, GO:0008015, GO:0007520, GO:0007009, GO:0006936, GO:0006071, GO:0001778, GO:0001778, membrane fusion, muscle fiber development, cellular response to heat, T-tubule organization, regulation of vascular endothelial growth factor receptor signaling pathway, blood circulation, myoblast fusion, plasma membrane organization, muscle contraction, glycerol metabolic process, plasma membrane repair, plasma membrane repair, 8 14 4 15 15 18 11 17 23 ENSG00000138131 chr10 98247690 98268250 - LOXL4 protein_coding This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]. 84171 GO:0070062, GO:0043235, GO:0016020, GO:0005615, extracellular exosome, receptor complex, membrane, extracellular space, GO:0005515, GO:0005507, GO:0005044, GO:0004720, protein binding, copper ion binding, scavenger receptor activity, protein-lysine 6-oxidase activity, GO:0030199, GO:0018057, GO:0006897, collagen fibril organization, peptidyl-lysine oxidation, endocytosis, 0 2 5 4 9 5 2 4 9 ENSG00000138134 chr10 88879734 88975153 + STAMBPL1 protein_coding 57559 GO:0016020, GO:0016020, GO:0005829, GO:0005768, membrane, membrane, cytosol, endosome, GO:0070122, GO:0061578, GO:0061578, GO:0046872, GO:0008237, GO:0005515, GO:0004843, isopeptidase activity, Lys63-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, metal ion binding, metallopeptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0070536, GO:0016579, protein K63-linked deubiquitination, protein deubiquitination, 22 13 35 79 17 75 68 26 51 ENSG00000138135 chr10 89205629 89207314 - CH25H protein_coding This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]. 9023 GO:0016021, GO:0016020, GO:0005829, GO:0005789, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, GO:0016491, GO:0008395, GO:0005515, GO:0005506, GO:0001567, GO:0000254, oxidoreductase activity, steroid hydroxylase activity, protein binding, iron ion binding, cholesterol 25-hydroxylase activity, C-4 methylsterol oxidase activity, GO:0055114, GO:0035754, GO:0016126, GO:0008203, GO:0006699, GO:0006629, oxidation-reduction process, B cell chemotaxis, sterol biosynthetic process, cholesterol metabolic process, bile acid biosynthetic process, lipid metabolic process, 0 0 1 0 0 0 0 0 0 ENSG00000138136 chr10 101226195 101229794 - LBX1 protein_coding This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]. 10660 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003677, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0048664, GO:0045665, GO:0021522, GO:0009653, GO:0008285, GO:0007517, GO:0006357, GO:0001947, neuron fate determination, negative regulation of neuron differentiation, spinal cord motor neuron differentiation, anatomical structure morphogenesis, negative regulation of cell population proliferation, muscle organ development, regulation of transcription by RNA polymerase II, heart looping, 0 0 0 0 0 0 0 0 0 ENSG00000138138 chr10 87751512 87841343 - ATAD1 protein_coding 84896 GO:0098978, GO:0045211, GO:0016020, GO:0005778, glutamatergic synapse, postsynaptic membrane, membrane, peroxisomal membrane, GO:0016887, GO:0005524, ATPase activity, ATP binding, GO:0099149, GO:0051967, GO:0007613, GO:0007612, GO:0002092, regulation of postsynaptic neurotransmitter receptor internalization, negative regulation of synaptic transmission, glutamatergic, memory, learning, positive regulation of receptor internalization, 143 106 182 109 95 188 111 95 120 ENSG00000138152 chr10 122271306 122338162 + BTBD16 protein_coding This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]. 118663 0 0 0 0 0 0 0 0 0 ENSG00000138160 chr10 92593286 92655395 + KIF11 protein_coding This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]. 3832 GO:0072686, GO:0032991, GO:0016020, GO:0005876, GO:0005874, GO:0005871, GO:0005829, GO:0005829, GO:0005819, GO:0005634, GO:0000922, mitotic spindle, protein-containing complex, membrane, spindle microtubule, microtubule, kinesin complex, cytosol, cytosol, spindle, nucleus, spindle pole, GO:0019901, GO:0008574, GO:0008017, GO:0005524, GO:0003777, protein kinase binding, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, microtubule motor activity, GO:0090307, GO:0090307, GO:0090307, GO:0051301, GO:0046602, GO:0019886, GO:0007100, GO:0007052, GO:0007051, GO:0007018, GO:0006890, GO:0000278, mitotic spindle assembly, mitotic spindle assembly, mitotic spindle assembly, cell division, regulation of mitotic centrosome separation, antigen processing and presentation of exogenous peptide antigen via MHC class II, mitotic centrosome separation, mitotic spindle organization, spindle organization, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, mitotic cell cycle, 6 3 13 14 16 16 11 8 14 ENSG00000138161 chr10 122832149 122850793 - CUZD1 protein_coding 50624 GO:0042589, GO:0030658, GO:0016021, GO:0016020, zymogen granule membrane, transport vesicle membrane, integral component of membrane, membrane, GO:0051301, GO:0032023, GO:0007155, GO:0007049, cell division, trypsinogen activation, cell adhesion, cell cycle, 3 0 0 3 0 2 1 7 7 ENSG00000138162 chr10 121989174 122254545 + TACC2 protein_coding Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10579 GO:0005886, GO:0005829, GO:0005815, GO:0005737, GO:0005654, plasma membrane, cytosol, microtubule organizing center, cytoplasm, nucleoplasm, GO:0035257, nuclear hormone receptor binding, GO:0021987, GO:0008283, GO:0007052, GO:0000226, cerebral cortex development, cell population proliferation, mitotic spindle organization, microtubule cytoskeleton organization, 0 0 1 0 0 0 0 0 2 ENSG00000138166 chr10 110497838 110511544 + DUSP5 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008]. 1847 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0051019, GO:0017017, GO:0016791, GO:0008330, GO:0008138, GO:0005515, GO:0004725, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, MAP kinase tyrosine/serine/threonine phosphatase activity, phosphatase activity, protein tyrosine/threonine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0035970, GO:0035970, GO:0035335, GO:0035335, GO:0016311, GO:0006470, GO:0001706, GO:0000188, GO:0000187, GO:0000165, peptidyl-threonine dephosphorylation, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, dephosphorylation, protein dephosphorylation, endoderm formation, inactivation of MAPK activity, activation of MAPK activity, MAPK cascade, 120 109 274 451 315 461 505 244 372 ENSG00000138172 chr10 103446786 103452402 - CALHM2 protein_coding 51063 GO:0005887, integral component of plasma membrane, GO:0005261, cation channel activity, GO:0098655, GO:0043065, cation transmembrane transport, positive regulation of apoptotic process, 21 9 16 38 29 63 26 25 75 ENSG00000138175 chr10 102673731 102714407 - ARL3 protein_coding ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]. 403 GO:0070062, GO:0032391, GO:0030496, GO:0015630, GO:0005929, GO:0005929, GO:0005929, GO:0005881, GO:0005876, GO:0005813, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0000139, extracellular exosome, photoreceptor connecting cilium, midbody, microtubule cytoskeleton, cilium, cilium, cilium, cytoplasmic microtubule, spindle microtubule, centrosome, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, Golgi membrane, GO:0032794, GO:0019003, GO:0008017, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0000287, GTPase activating protein binding, GDP binding, microtubule binding, GTP binding, GTP binding, protein binding, GTPase activity, magnesium ion binding, GO:1903441, GO:0061512, GO:0060271, GO:0060271, GO:0042461, GO:0042073, GO:0007264, GO:0007224, GO:0006893, GO:0006892, GO:0001822, GO:0000281, protein localization to ciliary membrane, protein localization to cilium, cilium assembly, cilium assembly, photoreceptor cell development, intraciliary transport, small GTPase mediated signal transduction, smoothened signaling pathway, Golgi to plasma membrane transport, post-Golgi vesicle-mediated transport, kidney development, mitotic cytokinesis, 89 73 101 54 101 82 59 109 80 ENSG00000138180 chr10 93496632 93529092 + CEP55 protein_coding 55165 GO:0090543, GO:0045171, GO:0034451, GO:0032154, GO:0030496, GO:0030496, GO:0016020, GO:0005886, GO:0005814, GO:0005813, GO:0005737, Flemming body, intercellular bridge, centriolar satellite, cleavage furrow, midbody, midbody, membrane, plasma membrane, centriole, centrosome, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1904888, GO:0061952, GO:0045184, GO:0045184, GO:0014066, GO:0007275, GO:0007080, GO:0006997, GO:0000281, GO:0000281, cranial skeletal system development, midbody abscission, establishment of protein localization, establishment of protein localization, regulation of phosphatidylinositol 3-kinase signaling, multicellular organism development, mitotic metaphase plate congression, nucleus organization, mitotic cytokinesis, mitotic cytokinesis, 1 2 4 1 2 5 3 3 1 ENSG00000138182 chr10 89701610 89774939 + KIF20B protein_coding 9585 GO:1990023, GO:0097431, GO:0070938, GO:0051233, GO:0048471, GO:0045171, GO:0030496, GO:0030496, GO:0030426, GO:0005874, GO:0005871, GO:0005829, GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, mitotic spindle midzone, mitotic spindle pole, contractile ring, spindle midzone, perinuclear region of cytoplasm, intercellular bridge, midbody, midbody, growth cone, microtubule, kinesin complex, cytosol, centrosome, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0050699, GO:0042803, GO:0016887, GO:0016887, GO:0008574, GO:0008017, GO:0008017, GO:0005524, GO:0005515, GO:0003777, WW domain binding, protein homodimerization activity, ATPase activity, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:2001224, GO:2000114, GO:1903438, GO:0090316, GO:0051301, GO:0048812, GO:0035372, GO:0032467, GO:0008284, GO:0008284, GO:0007088, GO:0007050, GO:0007018, GO:0001843, positive regulation of neuron migration, regulation of establishment of cell polarity, positive regulation of mitotic cytokinetic process, positive regulation of intracellular protein transport, cell division, neuron projection morphogenesis, protein localization to microtubule, positive regulation of cytokinesis, positive regulation of cell population proliferation, positive regulation of cell population proliferation, regulation of mitotic nuclear division, cell cycle arrest, microtubule-based movement, neural tube closure, 29 20 52 53 22 66 43 4 36 ENSG00000138185 chr10 95711779 95869695 + ENTPD1 protein_coding The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. 953 GO:0070062, GO:0016020, GO:0016020, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0102491, GO:0102490, GO:0102489, GO:0102488, GO:0102487, GO:0102486, GO:0102485, GO:0045134, GO:0017110, GO:0005524, GO:0005515, GO:0004382, dGTP phosphohydrolase activity, 8-oxo-dGTP phosphohydrolase activity, GTP phosphohydrolase activity, dTTP phosphohydrolase activity, dUTP phosphohydrolase activity, dCTP phosphohydrolase activity, dATP phosphohydrolase activity, uridine-diphosphatase activity, nucleoside-diphosphatase activity, ATP binding, protein binding, guanosine-diphosphatase activity, GO:0034656, GO:0009134, GO:0007596, GO:0007155, nucleobase-containing small molecule catabolic process, nucleoside diphosphate catabolic process, blood coagulation, cell adhesion, 2244 2013 2288 1113 1697 1391 1495 1384 1227 ENSG00000138190 chr10 92834713 93059493 + EXOC6 protein_coding The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]. 54536 GO:0090543, GO:0048471, GO:0030426, GO:0016020, GO:0005886, GO:0005829, GO:0000145, Flemming body, perinuclear region of cytoplasm, growth cone, membrane, plasma membrane, cytosol, exocyst, GO:0005515, protein binding, GO:0015031, GO:0006904, GO:0006893, GO:0006887, protein transport, vesicle docking involved in exocytosis, Golgi to plasma membrane transport, exocytosis, 393 360 392 238 365 314 268 235 302 ENSG00000138193 chr10 94030812 94332823 + PLCE1 protein_coding This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]. 51196 GO:0030027, GO:0005886, GO:0005886, GO:0005829, GO:0000139, lamellipodium, plasma membrane, plasma membrane, cytosol, Golgi membrane, GO:0046872, GO:0031267, GO:0019899, GO:0005515, GO:0005085, GO:0004629, GO:0004435, GO:0004435, metal ion binding, small GTPase binding, enzyme binding, protein binding, guanyl-nucleotide exchange factor activity, phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:0048016, GO:0048015, GO:0046578, GO:0045859, GO:0043647, GO:0032835, GO:0019722, GO:0019722, GO:0016042, GO:0010592, GO:0008277, GO:0007507, GO:0007265, GO:0007204, GO:0007200, GO:0007173, GO:0007173, GO:0007010, GO:0006940, GO:0006651, GO:0006651, GO:0001558, GO:0000187, inositol phosphate-mediated signaling, phosphatidylinositol-mediated signaling, regulation of Ras protein signal transduction, regulation of protein kinase activity, inositol phosphate metabolic process, glomerulus development, calcium-mediated signaling, calcium-mediated signaling, lipid catabolic process, positive regulation of lamellipodium assembly, regulation of G protein-coupled receptor signaling pathway, heart development, Ras protein signal transduction, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, cytoskeleton organization, regulation of smooth muscle contraction, diacylglycerol biosynthetic process, diacylglycerol biosynthetic process, regulation of cell growth, activation of MAPK activity, 3 2 9 15 2 15 14 4 5 ENSG00000138207 chr10 93591687 93601744 - RBP4 protein_coding This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]. 5950 GO:0070062, GO:0032991, GO:0005829, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, protein-containing complex, cytosol, extracellular space, extracellular space, extracellular space, extracellular region, GO:0044877, GO:0034632, GO:0019841, GO:0019841, GO:0016918, GO:0005515, protein-containing complex binding, retinol transmembrane transporter activity, retinol binding, retinol binding, retinal binding, protein binding, GO:0060347, GO:0060157, GO:0060068, GO:0060065, GO:0060059, GO:0060044, GO:0048807, GO:0048738, GO:0048706, GO:0048562, GO:0045471, GO:0042593, GO:0042572, GO:0034633, GO:0034633, GO:0032526, GO:0032024, GO:0030324, GO:0030277, GO:0007601, GO:0007507, GO:0006094, GO:0006094, GO:0002639, GO:0001654, GO:0001654, GO:0001523, heart trabecula formation, urinary bladder development, vagina development, uterus development, embryonic retina morphogenesis in camera-type eye, negative regulation of cardiac muscle cell proliferation, female genitalia morphogenesis, cardiac muscle tissue development, embryonic skeletal system development, embryonic organ morphogenesis, response to ethanol, glucose homeostasis, retinol metabolic process, retinol transport, retinol transport, response to retinoic acid, positive regulation of insulin secretion, lung development, maintenance of gastrointestinal epithelium, visual perception, heart development, gluconeogenesis, gluconeogenesis, positive regulation of immunoglobulin production, eye development, eye development, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000138231 chr3 138161012 138174949 - DBR1 protein_coding The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011]. 51163 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0008419, GO:0008419, GO:0003723, metal ion binding, RNA lariat debranching enzyme activity, RNA lariat debranching enzyme activity, RNA binding, GO:0090502, GO:0000398, GO:0000375, RNA phosphodiester bond hydrolysis, endonucleolytic, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 30 15 68 38 33 50 22 30 31 ENSG00000138246 chr3 132417526 132539032 + DNAJC13 protein_coding This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]. 23317 GO:0071203, GO:0070062, GO:0043231, GO:0035577, GO:0031901, GO:0030667, GO:0016020, GO:0010008, GO:0010008, GO:0005886, GO:0005829, GO:0005765, WASH complex, extracellular exosome, intracellular membrane-bounded organelle, azurophil granule membrane, early endosome membrane, secretory granule membrane, membrane, endosome membrane, endosome membrane, plasma membrane, cytosol, lysosomal membrane, GO:0005515, protein binding, GO:2000641, GO:1902954, GO:0043312, GO:0015031, GO:0007032, GO:0006898, GO:0001649, regulation of early endosome to late endosome transport, regulation of early endosome to recycling endosome transport, neutrophil degranulation, protein transport, endosome organization, receptor-mediated endocytosis, osteoblast differentiation, 585 604 577 381 423 438 426 320 356 ENSG00000138271 chr3 151294086 151316952 - GPR87 protein_coding This gene encodes a G protein-coupled receptor and is located in a cluster of G protein-couple receptor genes on chromosome 3. The encoded protein has been shown to be overexpressed in lung squamous cell carcinoma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011]. 53836 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0045028, G protein-coupled purinergic nucleotide receptor activity, GO:0035589, GO:0008150, GO:0007194, GO:0007186, G protein-coupled purinergic nucleotide receptor signaling pathway, biological_process, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, 2 2 5 0 2 1 1 2 0 ENSG00000138279 chr10 73375101 73414076 - ANXA7 protein_coding Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]. 310 GO:0070062, GO:0062023, GO:0042584, GO:0016020, GO:0005886, GO:0005829, GO:0005789, GO:0005737, GO:0005635, GO:0005634, GO:0005634, extracellular exosome, collagen-containing extracellular matrix, chromaffin granule membrane, membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, nuclear envelope, nucleus, nucleus, GO:0048306, GO:0005544, GO:0005515, GO:0005509, GO:0005178, GO:0003723, calcium-dependent protein binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, integrin binding, RNA binding, GO:0061025, GO:0051592, GO:0030855, GO:0014070, GO:0010629, GO:0009992, GO:0009651, GO:0008360, GO:0008283, GO:0007599, GO:0006914, GO:0006874, membrane fusion, response to calcium ion, epithelial cell differentiation, response to organic cyclic compound, negative regulation of gene expression, cellular water homeostasis, response to salt stress, regulation of cell shape, cell population proliferation, hemostasis, autophagy, cellular calcium ion homeostasis, 759 749 943 334 456 448 399 433 366 ENSG00000138286 chr10 73168166 73244504 + FAM149B1 protein_coding 317662 GO:0005515, protein binding, GO:0061512, GO:0060271, protein localization to cilium, cilium assembly, 121 169 151 167 163 192 154 166 162 ENSG00000138303 chr10 72096032 72217134 - ASCC1 protein_coding This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 51008 GO:0031594, GO:0016607, GO:0005667, GO:0005654, GO:0005634, neuromuscular junction, nuclear speck, transcription regulator complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006355, GO:0006307, regulation of transcription, DNA-templated, DNA dealkylation involved in DNA repair, 117 106 174 103 108 98 74 93 99 ENSG00000138308 chr10 72935170 72954778 - PLA2G12B protein_coding The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 84647 GO:0005576, extracellular region, GO:0005509, GO:0004623, calcium ion binding, phospholipase A2 activity, GO:0070328, GO:0050482, GO:0042632, GO:0016042, GO:0006644, triglyceride homeostasis, arachidonic acid secretion, cholesterol homeostasis, lipid catabolic process, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000138311 chr10 62374192 62670301 + ZNF365 protein_coding This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]. 22891 GO:0043231, GO:0034451, GO:0005813, GO:0005737, intracellular membrane-bounded organelle, centriolar satellite, centrosome, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0140059, GO:0110026, GO:0060997, GO:0048714, GO:0021687, GO:0010977, GO:0010569, GO:0000723, dendrite arborization, regulation of DNA strand resection involved in replication fork processing, dendritic spine morphogenesis, positive regulation of oligodendrocyte differentiation, cerebellar molecular layer morphogenesis, negative regulation of neuron projection development, regulation of double-strand break repair via homologous recombination, telomere maintenance, 1 0 6 6 6 18 5 1 12 ENSG00000138315 chr10 72893581 72933033 + OIT3 protein_coding This gene was identified due to its downregulation in hepatocarcinomas. The encoded protein may be involved in liver development and function. [provided by RefSeq, Sep 2016]. 170392 GO:0009986, GO:0005635, GO:0005615, cell surface, nuclear envelope, extracellular space, GO:0005515, GO:0005509, GO:0005201, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:1903118, urate homeostasis, 0 2 0 0 0 0 0 0 0 ENSG00000138316 chr10 70672803 70762441 + ADAMTS14 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]. 140766 GO:0031012, GO:0005576, extracellular matrix, extracellular region, GO:0046872, GO:0004222, metal ion binding, metalloendopeptidase activity, GO:0030574, GO:0030199, GO:0030198, GO:0006508, collagen catabolic process, collagen fibril organization, extracellular matrix organization, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000138326 chr10 78033732 78056813 + RPS24 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]. 6229 GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0005829, GO:0005654, GO:0005634, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, cytosol, nucleoplasm, nucleus, GO:0031369, GO:0003735, GO:0003723, translation initiation factor binding, structural constituent of ribosome, RNA binding, GO:0042274, GO:0034101, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0000184, ribosomal small subunit biogenesis, erythrocyte homeostasis, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 907 834 918 1653 1148 1598 1385 1144 1235 ENSG00000138336 chr10 68560656 68694482 + TET1 protein_coding DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]. 80312 GO:0005634, GO:0005634, nucleus, nucleus, GO:0070579, GO:0070579, GO:0070579, GO:0008327, GO:0008270, GO:0005506, GO:0003677, methylcytosine dioxygenase activity, methylcytosine dioxygenase activity, methylcytosine dioxygenase activity, methyl-CpG binding, zinc ion binding, iron ion binding, DNA binding, GO:0090310, GO:0080111, GO:0080111, GO:0070989, GO:0045944, GO:0045944, GO:0031062, GO:0019827, GO:0008284, GO:0006493, GO:0006325, GO:0006211, GO:0001826, negative regulation of DNA methylation-dependent heterochromatin assembly, DNA demethylation, DNA demethylation, oxidative demethylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of histone methylation, stem cell population maintenance, positive regulation of cell population proliferation, protein O-linked glycosylation, chromatin organization, 5-methylcytosine catabolic process, inner cell mass cell differentiation, 2 7 17 11 4 4 2 10 8 ENSG00000138346 chr10 68414064 68472121 - DNA2 protein_coding This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. 1763 GO:0042645, GO:0005760, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000781, GO:0000781, mitochondrial nucleoid, gamma DNA polymerase complex, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, chromosome, telomeric region, GO:0051539, GO:0046872, GO:0043139, GO:0017116, GO:0017108, GO:0017108, GO:0016890, GO:0016887, GO:0005524, GO:0005515, GO:0004518, GO:0004386, GO:0003723, GO:0003678, GO:0003678, GO:0003677, 4 iron, 4 sulfur cluster binding, metal ion binding, 5'-3' DNA helicase activity, single-stranded DNA helicase activity, 5'-flap endonuclease activity, 5'-flap endonuclease activity, site-specific endodeoxyribonuclease activity, specific for altered base, ATPase activity, ATP binding, protein binding, nuclease activity, helicase activity, RNA binding, DNA helicase activity, DNA helicase activity, DNA binding, GO:1902990, GO:1901796, GO:0090656, GO:0090305, GO:0071932, GO:0045740, GO:0044806, GO:0043504, GO:0043137, GO:0033567, GO:0032508, GO:0032201, GO:0006284, GO:0006264, GO:0006260, GO:0006260, GO:0000729, GO:0000723, GO:0000076, mitotic telomere maintenance via semi-conservative replication, regulation of signal transduction by p53 class mediator, t-circle formation, nucleic acid phosphodiester bond hydrolysis, replication fork reversal, positive regulation of DNA replication, G-quadruplex DNA unwinding, mitochondrial DNA repair, DNA replication, removal of RNA primer, DNA replication, Okazaki fragment processing, DNA duplex unwinding, telomere maintenance via semi-conservative replication, base-excision repair, mitochondrial DNA replication, DNA replication, DNA replication, DNA double-strand break processing, telomere maintenance, DNA replication checkpoint, 56 37 43 59 60 62 63 40 45 ENSG00000138347 chr10 68106117 68212017 + MYPN protein_coding Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]. 84665 GO:0031674, GO:0030424, GO:0030018, GO:0030018, GO:0005886, GO:0005634, I band, axon, Z disc, Z disc, plasma membrane, nucleus, GO:0098632, GO:0051371, GO:0017124, GO:0008092, GO:0005515, GO:0003779, cell-cell adhesion mediator activity, muscle alpha-actinin binding, SH3 domain binding, cytoskeletal protein binding, protein binding, actin binding, GO:0070593, GO:0045214, GO:0007411, GO:0007156, dendrite self-avoidance, sarcomere organization, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 0 0 0 0 0 0 0 ENSG00000138356 chr2 200585868 200677064 + AOX1 protein_coding Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]. 316 GO:0070062, GO:0005829, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, cytosol, GO:0102798, GO:0102797, GO:0071949, GO:0051537, GO:0051287, GO:0050660, GO:0050660, GO:0043546, GO:0042803, GO:0042802, GO:0009055, GO:0005506, GO:0004854, GO:0004031, heptaldehyde:oxygen oxidoreductase activity, geranial:oxygen oxidoreductase activity, FAD binding, 2 iron, 2 sulfur cluster binding, NAD binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, molybdopterin cofactor binding, protein homodimerization activity, identical protein binding, electron transfer activity, iron ion binding, xanthine dehydrogenase activity, aldehyde oxidase activity, GO:0055114, GO:0042816, GO:0022900, GO:0017144, GO:0009115, oxidation-reduction process, vitamin B6 metabolic process, electron transport chain, drug metabolic process, xanthine catabolic process, 1 0 1 0 0 0 0 0 0 ENSG00000138363 chr2 215311817 215349773 + ATIC protein_coding This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]. 471 GO:0070062, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, extracellular exosome, membrane, plasma membrane, cytosol, cytosol, cytosol, GO:0045296, GO:0042803, GO:0004643, GO:0003937, cadherin binding, protein homodimerization activity, phosphoribosylaminoimidazolecarboxamide formyltransferase activity, IMP cyclohydrolase activity, GO:0098761, GO:0046654, GO:0046452, GO:0031100, GO:0021987, GO:0021549, GO:0010035, GO:0009168, GO:0009116, GO:0006189, GO:0006189, GO:0006139, GO:0003360, cellular response to interleukin-7, tetrahydrofolate biosynthetic process, dihydrofolate metabolic process, animal organ regeneration, cerebral cortex development, cerebellum development, response to inorganic substance, purine ribonucleoside monophosphate biosynthetic process, nucleoside metabolic process, 'de novo' IMP biosynthetic process, 'de novo' IMP biosynthetic process, nucleobase-containing compound metabolic process, brainstem development, 17 13 39 82 31 93 45 16 69 ENSG00000138375 chr2 216412414 216483053 + SMARCAL1 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]. 50485 GO:0043596, GO:0035861, GO:0005662, GO:0005662, GO:0005634, nuclear replication fork, site of double-strand break, DNA replication factor A complex, DNA replication factor A complex, nucleus, GO:0036310, GO:0036310, GO:0036310, GO:0008094, GO:0005524, GO:0005515, GO:0003678, annealing helicase activity, annealing helicase activity, annealing helicase activity, DNA-dependent ATPase activity, ATP binding, protein binding, DNA helicase activity, GO:0090656, GO:0048478, GO:0036292, GO:0032508, GO:0031297, GO:0031297, GO:0031297, GO:0006974, GO:0006357, GO:0006303, GO:0006281, GO:0006259, GO:0000733, t-circle formation, replication fork protection, DNA rewinding, DNA duplex unwinding, replication fork processing, replication fork processing, replication fork processing, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, double-strand break repair via nonhomologous end joining, DNA repair, DNA metabolic process, DNA strand renaturation, 26 35 51 39 30 55 36 19 29 ENSG00000138376 chr2 214725646 214809711 - BARD1 protein_coding This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 580 GO:0070531, GO:0070531, GO:0036464, GO:0031436, GO:0031436, GO:0016607, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000151, BRCA1-A complex, BRCA1-A complex, cytoplasmic ribonucleoprotein granule, BRCA1-BARD1 complex, BRCA1-BARD1 complex, nuclear speck, cytoplasm, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, GO:0046982, GO:0046872, GO:0042803, GO:0019900, GO:0005515, GO:0004842, GO:0004842, GO:0004842, GO:0003723, protein heterodimerization activity, metal ion binding, protein homodimerization activity, kinase binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, RNA binding, GO:1901796, GO:0085020, GO:0085020, GO:0046826, GO:0045732, GO:0043066, GO:0043065, GO:0042325, GO:0031441, GO:0016579, GO:0016567, GO:0007050, GO:0006974, GO:0006303, GO:0006260, GO:0001894, GO:0000729, regulation of signal transduction by p53 class mediator, protein K6-linked ubiquitination, protein K6-linked ubiquitination, negative regulation of protein export from nucleus, positive regulation of protein catabolic process, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of phosphorylation, negative regulation of mRNA 3'-end processing, protein deubiquitination, protein ubiquitination, cell cycle arrest, cellular response to DNA damage stimulus, double-strand break repair via nonhomologous end joining, DNA replication, tissue homeostasis, DNA double-strand break processing, 11 9 23 16 10 24 4 10 6 ENSG00000138378 chr2 191029576 191151596 - STAT4 protein_coding The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]. 6775 GO:0005829, GO:0005654, GO:0000785, GO:0000785, cytosol, nucleoplasm, chromatin, chromatin, GO:0042802, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070757, GO:0043434, GO:0042127, GO:0038155, GO:0038114, GO:0035722, GO:0019221, GO:0019221, GO:0007259, GO:0006952, GO:0006357, interleukin-35-mediated signaling pathway, response to peptide hormone, regulation of cell population proliferation, interleukin-23-mediated signaling pathway, interleukin-21-mediated signaling pathway, interleukin-12-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, receptor signaling pathway via JAK-STAT, defense response, regulation of transcription by RNA polymerase II, 88 51 184 306 58 224 177 36 181 ENSG00000138379 chr2 190055697 190062729 - MSTN protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]. 2660 GO:0005737, GO:0005615, GO:0005615, cytoplasm, extracellular space, extracellular space, GO:0042803, GO:0042802, GO:0042802, GO:0008201, GO:0008083, GO:0005515, GO:0005125, GO:0005102, protein homodimerization activity, identical protein binding, identical protein binding, heparin binding, growth factor activity, protein binding, cytokine activity, signaling receptor binding, GO:2000818, GO:1902725, GO:1902723, GO:0071549, GO:0060395, GO:0051898, GO:0051602, GO:0048632, GO:0046716, GO:0046627, GO:0045893, GO:0045662, GO:0045471, GO:0043627, GO:0033673, GO:0033574, GO:0022602, GO:0014850, GO:0014839, GO:0014741, GO:0014732, GO:0010862, GO:0010759, GO:0010592, GO:0009629, GO:0009408, GO:0007517, GO:0007179, negative regulation of myoblast proliferation, negative regulation of satellite cell differentiation, negative regulation of skeletal muscle satellite cell proliferation, cellular response to dexamethasone stimulus, SMAD protein signal transduction, negative regulation of protein kinase B signaling, response to electrical stimulus, negative regulation of skeletal muscle tissue growth, muscle cell cellular homeostasis, negative regulation of insulin receptor signaling pathway, positive regulation of transcription, DNA-templated, negative regulation of myoblast differentiation, response to ethanol, response to estrogen, negative regulation of kinase activity, response to testosterone, ovulation cycle process, response to muscle activity, myoblast migration involved in skeletal muscle regeneration, negative regulation of muscle hypertrophy, skeletal muscle atrophy, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of macrophage chemotaxis, positive regulation of lamellipodium assembly, response to gravity, response to heat, muscle organ development, transforming growth factor beta receptor signaling pathway, 0 0 0 0 0 0 0 0 4 ENSG00000138380 chr2 202912214 202987063 + CARF protein_coding 79800 GO:0005634, GO:0005634, GO:0001652, nucleus, nucleus, granular component, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000978, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071277, GO:0061400, GO:0051090, GO:0035865, GO:0006357, cellular response to calcium ion, positive regulation of transcription from RNA polymerase II promoter in response to calcium ion, regulation of DNA-binding transcription factor activity, cellular response to potassium ion, regulation of transcription by RNA polymerase II, 12 13 30 53 21 75 30 12 28 ENSG00000138381 chr2 189661385 189670831 + ASNSD1 protein_coding 54529 GO:0005575, cellular_component, GO:0004066, GO:0003674, asparagine synthase (glutamine-hydrolyzing) activity, molecular_function, GO:0008150, GO:0006541, GO:0006529, biological_process, glutamine metabolic process, asparagine biosynthetic process, 145 216 252 95 149 133 97 153 85 ENSG00000138382 chr2 169810081 169824931 - METTL5 protein_coding 29081 GO:0098794, GO:0098793, GO:0042995, GO:0005634, postsynapse, presynapse, cell projection, nucleus, GO:1904047, GO:0008988, GO:0005515, GO:0003676, S-adenosyl-L-methionine binding, rRNA (adenine-N6-)-methyltransferase activity, protein binding, nucleic acid binding, GO:0048863, GO:0045727, GO:0031167, stem cell differentiation, positive regulation of translation, rRNA methylation, 25 19 43 118 24 63 53 34 70 ENSG00000138385 chr2 169791933 169812064 + SSB protein_coding The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]. 6741 GO:1990904, GO:0005737, GO:0005634, GO:0000781, ribonucleoprotein complex, cytoplasm, nucleus, chromosome, telomeric region, GO:1990825, GO:0008266, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0000049, sequence-specific mRNA binding, poly(U) RNA binding, protein binding, mRNA binding, RNA binding, RNA binding, tRNA binding, GO:1903608, GO:0075522, GO:0071045, GO:0042780, GO:0008334, GO:0008033, GO:0006409, GO:0006400, GO:0001682, protein localization to cytoplasmic stress granule, IRES-dependent viral translational initiation, nuclear histone mRNA catabolic process, tRNA 3'-end processing, histone mRNA metabolic process, tRNA processing, tRNA export from nucleus, tRNA modification, tRNA 5'-leader removal, 79 57 163 288 87 202 159 92 153 ENSG00000138386 chr2 190646746 190692766 + NAB1 protein_coding 4664 GO:0005634, GO:0005634, nucleus, nucleus, GO:0008134, GO:0003712, transcription factor binding, transcription coregulator activity, GO:0045892, GO:0045682, GO:0042552, GO:0014037, GO:0006355, GO:0006355, GO:0001958, negative regulation of transcription, DNA-templated, regulation of epidermis development, myelination, Schwann cell differentiation, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, endochondral ossification, 743 559 1596 384 410 356 441 319 334 ENSG00000138395 chr2 201790461 201895550 + CDK15 protein_coding 65061 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0046872, GO:0030332, GO:0005524, GO:0005515, GO:0004693, GO:0004674, metal ion binding, cyclin binding, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0051726, GO:0006468, GO:0000083, regulation of cell cycle, protein phosphorylation, regulation of transcription involved in G1/S transition of mitotic cell cycle, 1 7 3 0 0 0 0 0 0 ENSG00000138398 chr2 169584340 169641406 + PPIG protein_coding 9360 GO:0043231, GO:0016607, GO:0016363, GO:0005829, GO:0005737, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, nuclear speck, nuclear matrix, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0016018, GO:0016018, GO:0005515, GO:0003755, GO:0003755, GO:0003723, cyclosporin A binding, cyclosporin A binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, RNA binding, GO:0008380, GO:0006457, GO:0000413, GO:0000413, RNA splicing, protein folding, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, 2640 1676 2882 1317 1017 1418 1339 812 948 ENSG00000138399 chr2 169529749 169573875 - FASTKD1 protein_coding 79675 GO:0005739, mitochondrion, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0044528, GO:0000959, regulation of mitochondrial mRNA stability, mitochondrial RNA metabolic process, 8 11 29 46 17 45 18 12 21 ENSG00000138400 chr2 206737763 206765547 - MDH1B protein_coding 130752 GO:0030060, L-malate dehydrogenase activity, GO:0006734, GO:0006108, GO:0006107, GO:0006099, GO:0005975, NADH metabolic process, malate metabolic process, oxaloacetate metabolic process, tricarboxylic acid cycle, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000138411 chr2 196189099 196593692 - HECW2 protein_coding This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 57520 GO:0072686, GO:0005737, mitotic spindle, cytoplasm, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:2000650, GO:0048814, GO:0045732, GO:0043161, GO:0030071, GO:0016567, GO:0000209, negative regulation of sodium ion transmembrane transporter activity, regulation of dendrite morphogenesis, positive regulation of protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of mitotic metaphase/anaphase transition, protein ubiquitination, protein polyubiquitination, 231 227 281 88 170 117 122 160 128 ENSG00000138413 chr2 208236227 208266074 - IDH1 protein_coding Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]. 3417 GO:1904813, GO:1904724, GO:0070062, GO:0034774, GO:0005829, GO:0005829, GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005739, GO:0005737, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, secretory granule lumen, cytosol, cytosol, cytosol, peroxisomal matrix, peroxisome, peroxisome, mitochondrion, cytoplasm, extracellular region, GO:0051287, GO:0050661, GO:0045296, GO:0042803, GO:0042802, GO:0005515, GO:0004450, GO:0004450, GO:0000287, NAD binding, NADP binding, cadherin binding, protein homodimerization activity, identical protein binding, protein binding, isocitrate dehydrogenase (NADP+) activity, isocitrate dehydrogenase (NADP+) activity, magnesium ion binding, GO:0071071, GO:0060696, GO:0048545, GO:0043312, GO:0008585, GO:0006979, GO:0006749, GO:0006740, GO:0006739, GO:0006625, GO:0006103, GO:0006103, GO:0006102, GO:0006102, GO:0006099, GO:0006097, regulation of phospholipid biosynthetic process, regulation of phospholipid catabolic process, response to steroid hormone, neutrophil degranulation, female gonad development, response to oxidative stress, glutathione metabolic process, NADPH regeneration, NADP metabolic process, protein targeting to peroxisome, 2-oxoglutarate metabolic process, 2-oxoglutarate metabolic process, isocitrate metabolic process, isocitrate metabolic process, tricarboxylic acid cycle, glyoxylate cycle, 65 61 69 40 62 64 36 59 42 ENSG00000138430 chr2 174072447 174248698 - OLA1 protein_coding This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016]. 29789 GO:0070062, GO:0031093, GO:0016020, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005730, GO:0005576, extracellular exosome, platelet alpha granule lumen, membrane, cytosol, centrosome, cytoplasm, cytoplasm, nucleolus, extracellular region, GO:0046872, GO:0045296, GO:0043023, GO:0043022, GO:0016887, GO:0016887, GO:0005525, GO:0005524, GO:0005515, metal ion binding, cadherin binding, ribosomal large subunit binding, ribosome binding, ATPase activity, ATPase activity, GTP binding, ATP binding, protein binding, GO:0046034, GO:0002576, ATP metabolic process, platelet degranulation, 32 18 38 81 67 125 71 36 77 ENSG00000138433 chr2 174348022 174395715 - CIR1 protein_coding 9541 GO:0032991, GO:0016607, GO:0005813, GO:0005737, GO:0005634, GO:0005634, protein-containing complex, nuclear speck, centrosome, cytoplasm, nucleus, nucleus, GO:0044877, GO:0042826, GO:0019901, GO:0005515, GO:0003714, GO:0003714, protein-containing complex binding, histone deacetylase binding, protein kinase binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:0045892, GO:0045892, GO:0008380, GO:0006397, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, RNA splicing, mRNA processing, negative regulation of transcription by RNA polymerase II, 2713 2175 2925 1436 2151 1612 1775 1747 1502 ENSG00000138434 chr2 181891833 181930738 + ITPRID2 protein_coding 6744 GO:0005886, GO:0005829, GO:0005654, plasma membrane, cytosol, nucleoplasm, GO:0051015, GO:0005102, actin filament binding, signaling receptor binding, 2181 2033 2726 1058 1445 1454 1349 1152 1419 ENSG00000138435 chr2 174747592 174787935 - CHRNA1 protein_coding The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]. 1134 GO:0099060, GO:0045211, GO:0045202, GO:0043005, GO:0031594, GO:0031594, GO:0031594, GO:0009986, GO:0005892, GO:0005887, GO:0005886, GO:0005886, GO:0005886, integral component of postsynaptic specialization membrane, postsynaptic membrane, synapse, neuron projection, neuromuscular junction, neuromuscular junction, neuromuscular junction, cell surface, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:1904315, GO:1904315, GO:0042166, GO:0030594, GO:0022848, GO:0022848, GO:0015464, GO:0005216, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, ion channel activity, GO:0070050, GO:0060079, GO:0050905, GO:0050881, GO:0050877, GO:0048630, GO:0046716, GO:0042391, GO:0042391, GO:0034220, GO:0019228, GO:0007528, GO:0007274, GO:0007271, GO:0007268, GO:0007165, GO:0006812, GO:0003009, neuron cellular homeostasis, excitatory postsynaptic potential, neuromuscular process, musculoskeletal movement, nervous system process, skeletal muscle tissue growth, muscle cell cellular homeostasis, regulation of membrane potential, regulation of membrane potential, ion transmembrane transport, neuronal action potential, neuromuscular junction development, neuromuscular synaptic transmission, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, cation transport, skeletal muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000138439 chr2 202635188 202769757 + FAM117B protein_coding 150864 GO:0005515, protein binding, 173 196 196 178 150 162 174 176 147 ENSG00000138442 chr2 202874782 203014798 - WDR12 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]. 55759 GO:0070545, GO:0070545, GO:0030687, GO:0030687, GO:0005730, GO:0005654, GO:0005654, PeBoW complex, PeBoW complex, preribosome, large subunit precursor, preribosome, large subunit precursor, nucleolus, nucleoplasm, nucleoplasm, GO:0043021, GO:0005515, ribonucleoprotein complex binding, protein binding, GO:0051726, GO:0042273, GO:0007219, GO:0006364, GO:0000466, GO:0000466, GO:0000463, GO:0000463, regulation of cell cycle, ribosomal large subunit biogenesis, Notch signaling pathway, rRNA processing, maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 16 14 14 37 13 33 29 14 33 ENSG00000138443 chr2 203328219 203447723 + ABI2 protein_coding 10152 GO:0043197, GO:0032433, GO:0031209, GO:0030027, GO:0030027, GO:0005912, GO:0005856, GO:0005829, GO:0005737, GO:0005634, dendritic spine, filopodium tip, SCAR complex, lamellipodium, lamellipodium, adherens junction, cytoskeleton, cytosol, cytoplasm, nucleus, GO:0070064, GO:0042802, GO:0031625, GO:0031267, GO:0019900, GO:0017124, GO:0017124, GO:0017124, GO:0008093, GO:0005515, GO:0003677, proline-rich region binding, identical protein binding, ubiquitin protein ligase binding, small GTPase binding, kinase binding, SH3 domain binding, SH3 domain binding, SH3 domain binding, cytoskeletal anchor activity, protein binding, DNA binding, GO:2000601, GO:0070309, GO:0061001, GO:0018108, GO:0016601, GO:0016477, GO:0016032, GO:0008154, GO:0007010, positive regulation of Arp2/3 complex-mediated actin nucleation, lens fiber cell morphogenesis, regulation of dendritic spine morphogenesis, peptidyl-tyrosine phosphorylation, Rac protein signal transduction, cell migration, viral process, actin polymerization or depolymerization, cytoskeleton organization, 32 19 24 69 21 113 87 26 48 ENSG00000138448 chr2 186590065 186680901 + ITGAV protein_coding The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]. 3685 GO:0070062, GO:0045335, GO:0035868, GO:0035867, GO:0035866, GO:0035579, GO:0034686, GO:0034685, GO:0034684, GO:0034683, GO:0032587, GO:0031528, GO:0031527, GO:0031258, GO:0016020, GO:0009986, GO:0009986, GO:0009986, GO:0009897, GO:0008305, GO:0008305, GO:0005925, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005829, extracellular exosome, phagocytic vesicle, alphav-beta3 integrin-HMGB1 complex, alphav-beta3 integrin-IGF-1-IGF1R complex, alphav-beta3 integrin-PKCalpha complex, specific granule membrane, integrin alphav-beta8 complex, integrin alphav-beta6 complex, integrin alphav-beta5 complex, integrin alphav-beta3 complex, ruffle membrane, microvillus membrane, filopodium membrane, lamellipodium membrane, membrane, cell surface, cell surface, cell surface, external side of plasma membrane, integrin complex, integrin complex, focal adhesion, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:1990430, GO:0050840, GO:0050431, GO:0046872, GO:0038132, GO:0031994, GO:0019960, GO:0017134, GO:0015026, GO:0005515, GO:0005245, GO:0005178, GO:0005080, GO:0002020, GO:0001968, GO:0001846, GO:0001618, extracellular matrix protein binding, extracellular matrix binding, transforming growth factor beta binding, metal ion binding, neuregulin binding, insulin-like growth factor I binding, C-X3-C chemokine binding, fibroblast growth factor binding, coreceptor activity, protein binding, voltage-gated calcium channel activity, integrin binding, protein kinase C binding, protease binding, fibronectin binding, opsonin binding, virus receptor activity, GO:2001237, GO:2000536, GO:1901388, GO:0097192, GO:0085017, GO:0070588, GO:0070371, GO:0050919, GO:0050900, GO:0050764, GO:0050748, GO:0048010, GO:0046718, GO:0046718, GO:0045785, GO:0043312, GO:0043277, GO:0043277, GO:0038027, GO:0035987, GO:0034446, GO:0034113, GO:0033690, GO:0033627, GO:0032369, GO:0031589, GO:0030335, GO:0030198, GO:0010888, GO:0010745, GO:0008284, GO:0007229, GO:0007160, GO:0007160, GO:0007155, GO:0002479, GO:0001525, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of entry of bacterium into host cell, regulation of transforming growth factor beta activation, extrinsic apoptotic signaling pathway in absence of ligand, entry into host cell by a symbiont-containing vacuole, calcium ion transmembrane transport, ERK1 and ERK2 cascade, negative chemotaxis, leukocyte migration, regulation of phagocytosis, negative regulation of lipoprotein metabolic process, vascular endothelial growth factor receptor signaling pathway, viral entry into host cell, viral entry into host cell, positive regulation of cell adhesion, neutrophil degranulation, apoptotic cell clearance, apoptotic cell clearance, apolipoprotein A-I-mediated signaling pathway, endodermal cell differentiation, substrate adhesion-dependent cell spreading, heterotypic cell-cell adhesion, positive regulation of osteoblast proliferation, cell adhesion mediated by integrin, negative regulation of lipid transport, cell-substrate adhesion, positive regulation of cell migration, extracellular matrix organization, negative regulation of lipid storage, negative regulation of macrophage derived foam cell differentiation, positive regulation of cell population proliferation, integrin-mediated signaling pathway, cell-matrix adhesion, cell-matrix adhesion, cell adhesion, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, angiogenesis, 129 90 154 62 94 89 89 56 82 ENSG00000138449 chr2 189560579 189583758 - SLC40A1 protein_coding The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]. 30061 GO:0016323, GO:0016323, GO:0016323, GO:0016021, GO:0008021, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005654, basolateral plasma membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, synaptic vesicle, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleoplasm, GO:0042802, GO:0017046, GO:0017046, GO:0015093, GO:0005515, GO:0005381, GO:0005381, GO:0005381, identical protein binding, peptide hormone binding, peptide hormone binding, ferrous iron transmembrane transporter activity, protein binding, iron ion transmembrane transporter activity, iron ion transmembrane transporter activity, iron ion transmembrane transporter activity, GO:1903988, GO:0072511, GO:0060586, GO:0060345, GO:0055072, GO:0045944, GO:0043066, GO:0034755, GO:0034755, GO:0034395, GO:0006879, GO:0006879, GO:0003158, GO:0002260, iron ion export across plasma membrane, divalent inorganic cation transport, multicellular organismal iron ion homeostasis, spleen trabecula formation, iron ion homeostasis, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, iron ion transmembrane transport, iron ion transmembrane transport, regulation of transcription from RNA polymerase II promoter in response to iron, cellular iron ion homeostasis, cellular iron ion homeostasis, endothelium development, lymphocyte homeostasis, 904 629 878 141 270 148 200 286 195 ENSG00000138459 chr3 112561709 112585577 + SLC35A5 protein_coding This gene encodes a transmembrane protein which belongs to subfamily 35A of the solute carrier superfamily. The encoded protein is a nucleoside-sugar transporter. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 55032 GO:0030173, integral component of Golgi membrane, GO:0015165, GO:0005515, pyrimidine nucleotide-sugar transmembrane transporter activity, protein binding, GO:0090481, GO:0008643, pyrimidine nucleotide-sugar transmembrane transport, carbohydrate transport, 554 442 712 284 367 295 266 309 331 ENSG00000138463 chr3 122794795 122881139 + DIRC2 protein_coding This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]. 84925 GO:0043231, GO:0043231, GO:0016021, GO:0005765, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, integral component of membrane, lysosomal membrane, 671 658 758 362 415 433 374 337 358 ENSG00000138468 chr3 101324205 101513241 - SENP7 protein_coding The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]. 57337 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0070139, GO:0005515, SUMO-specific endopeptidase activity, protein binding, GO:0016926, protein desumoylation, 1189 1157 1064 1019 1545 1111 1240 1134 897 ENSG00000138472 chr3 108907792 108953895 - GUCA1C protein_coding 9626 GO:0097381, photoreceptor disc membrane, GO:0008048, GO:0005515, GO:0005509, calcium sensitive guanylate cyclase activator activity, protein binding, calcium ion binding, GO:0031284, GO:0022400, GO:0007601, GO:0007165, positive regulation of guanylate cyclase activity, regulation of rhodopsin mediated signaling pathway, visual perception, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000138483 chr3 107377194 107378637 + CCDC54 protein_coding 84692 0 0 0 0 0 0 0 0 0 ENSG00000138495 chr3 119654513 119677454 - COX17 protein_coding Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]. 10063 GO:0005758, GO:0005758, GO:0005737, mitochondrial intermembrane space, mitochondrial intermembrane space, cytoplasm, GO:1903136, GO:0016531, GO:0016531, GO:0016531, GO:0005515, GO:0005507, cuprous ion binding, copper chaperone activity, copper chaperone activity, copper chaperone activity, protein binding, copper ion binding, GO:1904960, GO:0033617, GO:0033617, GO:0008284, GO:0007507, GO:0007420, GO:0006825, GO:0006091, positive regulation of cytochrome-c oxidase activity, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, positive regulation of cell population proliferation, heart development, brain development, copper ion transport, generation of precursor metabolites and energy, 65 65 129 87 79 111 64 93 65 ENSG00000138496 chr3 122527924 122564577 - PARP9 protein_coding 83666 GO:0090734, GO:0032991, GO:0016020, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, GO:0005634, site of DNA damage, protein-containing complex, membrane, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, nucleus, nucleus, GO:1990404, GO:0097677, GO:0072570, GO:0070403, GO:0044389, GO:0044389, GO:0042393, GO:0019899, GO:0005515, GO:0004857, GO:0003950, GO:0003950, GO:0003950, GO:0003714, GO:0003714, protein ADP-ribosylase activity, STAT family protein binding, ADP-D-ribose binding, NAD+ binding, ubiquitin-like protein ligase binding, ubiquitin-like protein ligase binding, histone binding, enzyme binding, protein binding, enzyme inhibitor activity, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, transcription corepressor activity, transcription corepressor activity, GO:2001034, GO:1900182, GO:0140289, GO:0070212, GO:0060335, GO:0060335, GO:0060330, GO:0051607, GO:0045893, GO:0045087, GO:0043086, GO:0042531, GO:0035563, GO:0034356, GO:0016477, GO:0010629, GO:0010629, GO:0010608, GO:0006471, GO:0006302, GO:0002230, GO:0000122, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of protein localization to nucleus, protein mono-ADP-ribosylation, protein poly-ADP-ribosylation, positive regulation of interferon-gamma-mediated signaling pathway, positive regulation of interferon-gamma-mediated signaling pathway, regulation of response to interferon-gamma, defense response to virus, positive regulation of transcription, DNA-templated, innate immune response, negative regulation of catalytic activity, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of chromatin binding, NAD biosynthesis via nicotinamide riboside salvage pathway, cell migration, negative regulation of gene expression, negative regulation of gene expression, posttranscriptional regulation of gene expression, protein ADP-ribosylation, double-strand break repair, positive regulation of defense response to virus by host, negative regulation of transcription by RNA polymerase II, 2480 1816 2862 1658 1623 2117 1937 1295 1900 ENSG00000138587 chr15 56421544 56465137 - MNS1 protein_coding This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]. 55329 GO:0036126, GO:0031514, GO:0005930, GO:0005882, GO:0005635, sperm flagellum, motile cilium, axoneme, intermediate filament, nuclear envelope, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0070986, GO:0051321, GO:0045724, GO:0044782, GO:0007283, left/right axis specification, meiotic cell cycle, positive regulation of cilium assembly, cilium organization, spermatogenesis, 1 0 1 1 3 0 0 0 0 ENSG00000138592 chr15 50424380 50514419 + USP8 protein_coding This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 9101 GO:0098978, GO:0043197, GO:0031313, GO:0030496, GO:0030496, GO:0019897, GO:0019897, GO:0014069, GO:0005829, GO:0005829, GO:0005829, GO:0005769, GO:0005737, GO:0005634, glutamatergic synapse, dendritic spine, extrinsic component of endosome membrane, midbody, midbody, extrinsic component of plasma membrane, extrinsic component of plasma membrane, postsynaptic density, cytosol, cytosol, cytosol, early endosome, cytoplasm, nucleus, GO:0045296, GO:0017124, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004197, cadherin binding, SH3 domain binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:1990090, GO:0099576, GO:0090263, GO:0071549, GO:0071108, GO:0071108, GO:0070536, GO:0070536, GO:0032880, GO:0031647, GO:0016579, GO:0016579, GO:0007265, GO:0007032, GO:0007032, GO:0006511, GO:0000281, cellular response to nerve growth factor stimulus, regulation of protein catabolic process at postsynapse, modulating synaptic transmission, positive regulation of canonical Wnt signaling pathway, cellular response to dexamethasone stimulus, protein K48-linked deubiquitination, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein K63-linked deubiquitination, regulation of protein localization, regulation of protein stability, protein deubiquitination, protein deubiquitination, Ras protein signal transduction, endosome organization, endosome organization, ubiquitin-dependent protein catabolic process, mitotic cytokinesis, 1381 978 1854 733 1053 1022 852 735 758 ENSG00000138593 chr15 48988476 49046563 - SECISBP2L protein_coding 9728 GO:1990904, ribonucleoprotein complex, GO:0043021, GO:0035368, GO:0005515, GO:0003730, GO:0003723, ribonucleoprotein complex binding, selenocysteine insertion sequence binding, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0001514, selenocysteine incorporation, 822 952 1052 344 517 562 437 415 360 ENSG00000138594 chr15 51829628 51947295 + TMOD3 protein_coding 29766 GO:0030016, GO:0005912, GO:0005865, GO:0005856, myofibril, adherens junction, striated muscle thin filament, cytoskeleton, GO:0098641, GO:0005523, GO:0003779, cadherin binding involved in cell-cell adhesion, tropomyosin binding, actin binding, GO:1901992, GO:0098609, GO:0051694, GO:0048821, GO:0030239, GO:0007015, GO:0006936, positive regulation of mitotic cell cycle phase transition, cell-cell adhesion, pointed-end actin filament capping, erythrocyte development, myofibril assembly, actin filament organization, muscle contraction, 1078 1006 1054 516 758 612 648 694 631 ENSG00000138600 chr15 50702266 50765808 - SPPL2A protein_coding This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]. 84888 GO:0071556, GO:0071556, GO:0071458, GO:0071458, GO:0070062, GO:0043231, GO:0031902, GO:0030660, GO:0030660, GO:0016020, GO:0005886, GO:0005886, GO:0005770, GO:0005765, GO:0005765, integral component of lumenal side of endoplasmic reticulum membrane, integral component of lumenal side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, extracellular exosome, intracellular membrane-bounded organelle, late endosome membrane, Golgi-associated vesicle membrane, Golgi-associated vesicle membrane, membrane, plasma membrane, plasma membrane, late endosome, lysosomal membrane, lysosomal membrane, GO:0042803, GO:0042500, GO:0042500, GO:0005515, protein homodimerization activity, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, protein binding, GO:0050776, GO:0033619, GO:0033619, GO:0031293, GO:0031293, GO:0010803, GO:0006509, regulation of immune response, membrane protein proteolysis, membrane protein proteolysis, membrane protein intracellular domain proteolysis, membrane protein intracellular domain proteolysis, regulation of tumor necrosis factor-mediated signaling pathway, membrane protein ectodomain proteolysis, 656 521 1085 415 476 540 391 405 478 ENSG00000138604 chr15 69160584 69272217 + GLCE protein_coding 26035 GO:0016021, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0047464, GO:0047464, GO:0047464, GO:0042803, GO:0016857, GO:0005509, heparosan-N-sulfate-glucuronate 5-epimerase activity, heparosan-N-sulfate-glucuronate 5-epimerase activity, heparosan-N-sulfate-glucuronate 5-epimerase activity, protein homodimerization activity, racemase and epimerase activity, acting on carbohydrates and derivatives, calcium ion binding, GO:0030210, GO:0030210, GO:0015012, GO:0015012, GO:0015012, GO:0015012, heparin biosynthetic process, heparin biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, 7 7 15 11 6 17 16 11 12 ENSG00000138606 chr15 45167214 45201175 - SHF protein_coding 90525 GO:0001784, phosphotyrosine residue binding, GO:0006915, apoptotic process, 0 0 8 11 2 10 12 2 8 ENSG00000138613 chr15 63276018 63309126 + APH1B protein_coding This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]. 83464 GO:0070765, GO:0030133, GO:0016021, GO:0010008, GO:0005887, GO:0005886, GO:0005783, gamma-secretase complex, transport vesicle, integral component of membrane, endosome membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:0008233, GO:0005515, GO:0004175, peptidase activity, protein binding, endopeptidase activity, GO:0048013, GO:0044267, GO:0043085, GO:0043065, GO:0035333, GO:0031293, GO:0016485, GO:0016485, GO:0007626, GO:0007220, GO:0007219, ephrin receptor signaling pathway, cellular protein metabolic process, positive regulation of catalytic activity, positive regulation of apoptotic process, Notch receptor processing, ligand-dependent, membrane protein intracellular domain proteolysis, protein processing, protein processing, locomotory behavior, Notch receptor processing, Notch signaling pathway, 200 214 273 123 182 111 99 127 144 ENSG00000138614 chr15 65578753 65611289 - INTS14 protein_coding 81556 GO:0032039, GO:0005654, integrator complex, nucleoplasm, GO:0042795, GO:0034472, snRNA transcription by RNA polymerase II, snRNA 3'-end processing, 18 14 24 38 22 64 21 11 26 ENSG00000138615 chr15 65194758 65211488 - CILP protein_coding Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]. 8483 GO:0070062, GO:0062023, GO:0062023, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular space, GO:0005201, GO:0004551, GO:0004035, extracellular matrix structural constituent, nucleotide diphosphatase activity, alkaline phosphatase activity, GO:0071560, GO:0060392, GO:0043569, GO:0016311, GO:0010629, cellular response to transforming growth factor beta stimulus, negative regulation of SMAD protein signal transduction, negative regulation of insulin-like growth factor receptor signaling pathway, dephosphorylation, negative regulation of gene expression, 9 2 4 16 4 25 15 2 6 ENSG00000138617 chr15 65234460 65300618 - PARP16 protein_coding 54956 GO:0071782, GO:0071782, GO:0016021, GO:0016020, GO:0005829, GO:0005789, GO:0005783, GO:0005635, GO:0005635, GO:0005622, endoplasmic reticulum tubular network, endoplasmic reticulum tubular network, integral component of membrane, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear envelope, nuclear envelope, intracellular anatomical structure, GO:1990404, GO:0043539, GO:0043539, GO:0019900, GO:0019900, GO:0005515, GO:0003950, GO:0003950, protein ADP-ribosylase activity, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, kinase binding, kinase binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, GO:1990830, GO:0140289, GO:0071902, GO:0070213, GO:0070213, GO:0060548, GO:0036498, GO:0034356, GO:0030968, GO:0030968, GO:0006471, GO:0006471, cellular response to leukemia inhibitory factor, protein mono-ADP-ribosylation, positive regulation of protein serine/threonine kinase activity, protein auto-ADP-ribosylation, protein auto-ADP-ribosylation, negative regulation of cell death, IRE1-mediated unfolded protein response, NAD biosynthesis via nicotinamide riboside salvage pathway, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, protein ADP-ribosylation, protein ADP-ribosylation, 33 37 40 59 54 48 63 35 41 ENSG00000138621 chr15 75023555 75117462 + PPCDC protein_coding Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]. 60490 GO:0071513, GO:0005829, phosphopantothenoylcysteine decarboxylase complex, cytosol, GO:0042802, GO:0010181, GO:0005515, GO:0004633, GO:0004633, identical protein binding, FMN binding, protein binding, phosphopantothenoylcysteine decarboxylase activity, phosphopantothenoylcysteine decarboxylase activity, GO:0015937, GO:0015937, GO:0015937, coenzyme A biosynthetic process, coenzyme A biosynthetic process, coenzyme A biosynthetic process, 2685 2743 3786 705 1151 854 925 1090 815 ENSG00000138622 chr15 73319859 73369264 - HCN4 protein_coding This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]. 10021 GO:0098855, GO:0048471, GO:0031226, GO:0005886, GO:0005886, HCN channel complex, perinuclear region of cytoplasm, intrinsic component of plasma membrane, plasma membrane, plasma membrane, GO:0086041, GO:0042802, GO:0030552, GO:0005249, GO:0005249, GO:0005248, GO:0005222, voltage-gated potassium channel activity involved in SA node cell action potential depolarization, identical protein binding, cAMP binding, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated sodium channel activity, intracellular cAMP-activated cation channel activity, GO:1990573, GO:0098909, GO:0098719, GO:0086091, GO:0086046, GO:0086015, GO:0086012, GO:0071805, GO:0071805, GO:0071321, GO:0071320, GO:0055117, GO:0042391, GO:0035725, GO:0034765, GO:0008015, GO:0006936, GO:0006812, GO:0003254, GO:0002027, potassium ion import across plasma membrane, regulation of cardiac muscle cell action potential involved in regulation of contraction, sodium ion import across plasma membrane, regulation of heart rate by cardiac conduction, membrane depolarization during SA node cell action potential, SA node cell action potential, membrane depolarization during cardiac muscle cell action potential, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to cGMP, cellular response to cAMP, regulation of cardiac muscle contraction, regulation of membrane potential, sodium ion transmembrane transport, regulation of ion transmembrane transport, blood circulation, muscle contraction, cation transport, regulation of membrane depolarization, regulation of heart rate, 0 0 0 0 0 0 0 0 0 ENSG00000138623 chr15 74409289 74433958 - SEMA7A protein_coding This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 8482 GO:0062023, GO:0031225, GO:0016020, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005615, collagen-containing extracellular matrix, anchored component of membrane, membrane, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, GO:0045499, GO:0030215, GO:0005515, GO:0005178, chemorepellent activity, semaphorin receptor binding, protein binding, integrin binding, GO:0071526, GO:0070374, GO:0070374, GO:0060907, GO:0060907, GO:0050919, GO:0050727, GO:0050727, GO:0048843, GO:0048675, GO:0045773, GO:0045773, GO:0030335, GO:0021988, GO:0007411, GO:0007229, GO:0007229, GO:0006955, GO:0006954, GO:0001755, GO:0001649, semaphorin-plexin signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of macrophage cytokine production, positive regulation of macrophage cytokine production, negative chemotaxis, regulation of inflammatory response, regulation of inflammatory response, negative regulation of axon extension involved in axon guidance, axon extension, positive regulation of axon extension, positive regulation of axon extension, positive regulation of cell migration, olfactory lobe development, axon guidance, integrin-mediated signaling pathway, integrin-mediated signaling pathway, immune response, inflammatory response, neural crest cell migration, osteoblast differentiation, 233 269 681 99 93 100 116 73 92 ENSG00000138629 chr15 74445977 74461182 - UBL7 protein_coding 84993 GO:0005829, cytosol, GO:0031593, GO:0005515, polyubiquitin modification-dependent protein binding, protein binding, GO:0006511, ubiquitin-dependent protein catabolic process, 242 235 239 109 172 149 153 161 142 ENSG00000138639 chr4 85475114 86002670 + ARHGAP24 protein_coding This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 83478 GO:0042995, GO:0005925, GO:0005912, GO:0005856, GO:0005829, cell projection, focal adhesion, adherens junction, cytoskeleton, cytosol, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:1900028, GO:0090630, GO:0051056, GO:0035313, GO:0035021, GO:0030154, GO:0007165, GO:0001525, negative regulation of ruffle assembly, activation of GTPase activity, regulation of small GTPase mediated signal transduction, wound healing, spreading of epidermal cells, negative regulation of Rac protein signal transduction, cell differentiation, signal transduction, angiogenesis, 123 54 110 95 72 117 106 53 53 ENSG00000138640 chr4 88725955 89111398 - FAM13A protein_coding 10144 GO:0005829, cytosol, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 530 529 578 871 1145 1154 906 649 953 ENSG00000138641 chr4 88592423 88708542 + HERC3 protein_coding This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]. 8916 GO:0031410, GO:0005829, cytoplasmic vesicle, cytosol, GO:0004842, ubiquitin-protein transferase activity, GO:0016567, protein ubiquitination, 2538 2429 2706 1551 2308 2104 1854 1748 1859 ENSG00000138642 chr4 88378739 88443111 + HERC6 protein_coding HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]. 55008 GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, nucleoplasm, GO:0004842, ubiquitin-protein transferase activity, GO:0009617, GO:0002244, GO:0000209, response to bacterium, hematopoietic progenitor cell differentiation, protein polyubiquitination, 58 72 104 86 64 125 90 49 93 ENSG00000138646 chr4 88457117 88506163 + HERC5 protein_coding This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008]. 51191 GO:0048471, GO:0005829, GO:0005737, perinuclear region of cytoplasm, cytosol, cytoplasm, GO:0061630, GO:0042296, GO:0042296, GO:0005515, GO:0004842, GO:0003723, ubiquitin protein ligase activity, ISG15 transferase activity, ISG15 transferase activity, protein binding, ubiquitin-protein transferase activity, RNA binding, GO:0051607, GO:0050688, GO:0050688, GO:0045087, GO:0032480, GO:0032020, GO:0032020, GO:0016567, GO:0000209, GO:0000079, defense response to virus, regulation of defense response to virus, regulation of defense response to virus, innate immune response, negative regulation of type I interferon production, ISG15-protein conjugation, ISG15-protein conjugation, protein ubiquitination, protein polyubiquitination, regulation of cyclin-dependent protein serine/threonine kinase activity, 343 279 473 194 311 366 294 222 287 ENSG00000138650 chr4 133149315 133208606 + PCDH10 protein_coding This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]. 57575 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000138653 chr4 114827763 115113876 - NDST4 protein_coding 64579 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0019213, GO:0015016, deacetylase activity, [heparan sulfate]-glucosamine N-sulfotransferase activity, GO:0030210, GO:0015014, heparin biosynthetic process, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000138658 chr4 112539333 112636995 - ZGRF1 protein_coding The encoded protein contains GRF zinc finger (zf-GRF) and transmembrane domains. GRF zinc fingers are found in a number of DNA-binding proteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]. 55345 GO:0016021, GO:0005737, GO:0000781, integral component of membrane, cytoplasm, chromosome, telomeric region, GO:0017108, GO:0008270, GO:0004386, GO:0003723, 5'-flap endonuclease activity, zinc ion binding, helicase activity, RNA binding, GO:0071932, replication fork reversal, 37 31 72 40 57 54 62 40 32 ENSG00000138660 chr4 112231737 112270047 + AP1AR protein_coding 55435 GO:0030133, GO:0005829, GO:0005794, GO:0005770, GO:0005769, GO:0005768, transport vesicle, cytosol, Golgi apparatus, late endosome, early endosome, endosome, GO:0035650, GO:0035650, GO:0019894, GO:0019894, AP-1 adaptor complex binding, AP-1 adaptor complex binding, kinesin binding, kinesin binding, GO:2000146, GO:1900025, GO:0048203, GO:0048203, GO:0034613, GO:0034315, GO:0015031, GO:0001920, negative regulation of cell motility, negative regulation of substrate adhesion-dependent cell spreading, vesicle targeting, trans-Golgi to endosome, vesicle targeting, trans-Golgi to endosome, cellular protein localization, regulation of Arp2/3 complex-mediated actin nucleation, protein transport, negative regulation of receptor recycling, 31 49 61 88 53 69 96 44 48 ENSG00000138663 chr4 83034447 83075818 + COPS4 protein_coding This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 51138 GO:0030054, GO:0016607, GO:0008180, GO:0008180, GO:0008021, GO:0005829, GO:0005829, GO:0005654, GO:0005634, cell junction, nuclear speck, COP9 signalosome, COP9 signalosome, synaptic vesicle, cytosol, cytosol, nucleoplasm, nucleus, GO:0019784, GO:0005515, NEDD8-specific protease activity, protein binding, GO:0043687, GO:0006283, GO:0000715, GO:0000338, GO:0000338, post-translational protein modification, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA damage recognition, protein deneddylation, protein deneddylation, 115 109 149 83 74 95 56 48 36 ENSG00000138668 chr4 82352498 82374503 - HNRNPD protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]. 3184 GO:1990904, GO:0005829, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, ribonucleoprotein complex, cytosol, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0042826, GO:0042162, GO:0035925, GO:0008134, GO:0005515, GO:0003723, GO:0003723, GO:0003723, GO:0003723, GO:0003682, GO:0003680, histone deacetylase binding, telomeric DNA binding, mRNA 3'-UTR AU-rich region binding, transcription factor binding, protein binding, RNA binding, RNA binding, RNA binding, RNA binding, chromatin binding, minor groove of adenine-thymine-rich DNA binding, GO:1990828, GO:1905663, GO:1904586, GO:1904383, GO:1904355, GO:1901355, GO:0097167, GO:0071732, GO:0071392, GO:0071230, GO:0061158, GO:0051602, GO:0051592, GO:0048255, GO:0045893, GO:0045727, GO:0043488, GO:0042752, GO:0032204, GO:0021549, GO:0016070, GO:0010468, GO:0006401, GO:0006396, GO:0006355, GO:0001889, GO:0000398, hepatocyte dedifferentiation, positive regulation of telomerase RNA reverse transcriptase activity, cellular response to putrescine, response to sodium phosphate, positive regulation of telomere capping, response to rapamycin, circadian regulation of translation, cellular response to nitric oxide, cellular response to estradiol stimulus, cellular response to amino acid stimulus, 3'-UTR-mediated mRNA destabilization, response to electrical stimulus, response to calcium ion, mRNA stabilization, positive regulation of transcription, DNA-templated, positive regulation of translation, regulation of mRNA stability, regulation of circadian rhythm, regulation of telomere maintenance, cerebellum development, RNA metabolic process, regulation of gene expression, RNA catabolic process, RNA processing, regulation of transcription, DNA-templated, liver development, mRNA splicing, via spliceosome, 1711 1631 2096 1741 1751 1885 1725 1420 1502 ENSG00000138669 chr4 81087370 81215117 - PRKG2 protein_coding This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The membrane-bound protein is a regulator of intestinal secretion, bone growth and renin secretion. Alternate splicing results in multiple transcript variants encoding distinct isoforms whose regulatory N-termini differ in length but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]. 5593 GO:0031965, GO:0016324, GO:0005829, nuclear membrane, apical plasma membrane, cytosol, GO:0042802, GO:0030553, GO:0005524, GO:0004692, GO:0004672, identical protein binding, cGMP binding, ATP binding, cGMP-dependent protein kinase activity, protein kinase activity, GO:2001226, GO:0072659, GO:0036289, GO:0007165, GO:0006468, negative regulation of chloride transport, protein localization to plasma membrane, peptidyl-serine autophosphorylation, signal transduction, protein phosphorylation, 1 1 0 4 6 2 0 1 2 ENSG00000138670 chr4 81426393 82044244 - RASGEF1B protein_coding 153020 GO:0030496, GO:0005770, GO:0005769, midbody, late endosome, early endosome, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0007264, small GTPase mediated signal transduction, 58 45 159 185 112 212 143 87 162 ENSG00000138674 chr4 82818661 82901166 - SEC31A protein_coding The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 22872 GO:0070971, GO:0070971, GO:0070971, GO:0048471, GO:0043231, GO:0030134, GO:0030127, GO:0030127, GO:0030127, GO:0030120, GO:0012507, GO:0005829, GO:0005829, GO:0005789, GO:0005783, GO:0005737, GO:0000139, endoplasmic reticulum exit site, endoplasmic reticulum exit site, endoplasmic reticulum exit site, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, COPII-coated ER to Golgi transport vesicle, COPII vesicle coat, COPII vesicle coat, COPII vesicle coat, vesicle coat, ER to Golgi transport vesicle membrane, cytosol, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, Golgi membrane, GO:0048306, GO:0005515, GO:0005198, calcium-dependent protein binding, protein binding, structural molecule activity, GO:0090110, GO:0090110, GO:0051592, GO:0048208, GO:0036498, GO:0019886, GO:0007029, GO:0006888, GO:0006886, GO:0002474, COPII-coated vesicle cargo loading, COPII-coated vesicle cargo loading, response to calcium ion, COPII vesicle coating, IRE1-mediated unfolded protein response, antigen processing and presentation of exogenous peptide antigen via MHC class II, endoplasmic reticulum organization, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, antigen processing and presentation of peptide antigen via MHC class I, 455 447 738 353 366 479 373 262 363 ENSG00000138675 chr4 80266599 80336680 + FGF5 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 2250 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0005104, GO:0005104, growth factor activity, fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:0051897, GO:0051781, GO:0030334, GO:0030154, GO:0023019, GO:0010628, GO:0010001, GO:0009887, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0008284, GO:0007399, GO:0007267, GO:0001934, GO:0000165, positive regulation of protein kinase B signaling, positive regulation of cell division, regulation of cell migration, cell differentiation, signal transduction involved in regulation of gene expression, positive regulation of gene expression, glial cell differentiation, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, nervous system development, cell-cell signaling, positive regulation of protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000138678 chr4 83535914 83605875 + GPAT3 protein_coding This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]. 84803 GO:0016021, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102420, GO:0004366, GO:0004366, GO:0003841, sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity, glycerol-3-phosphate O-acyltransferase activity, glycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0032006, GO:0019432, GO:0019432, GO:0016024, GO:0006654, regulation of TOR signaling, triglyceride biosynthetic process, triglyceride biosynthetic process, CDP-diacylglycerol biosynthetic process, phosphatidic acid biosynthetic process, 595 504 791 225 457 328 297 354 235 ENSG00000138684 chr4 122610108 122621069 - IL21 protein_coding This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 59067 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005134, GO:0005126, GO:0005125, protein binding, interleukin-2 receptor binding, cytokine receptor binding, cytokine activity, GO:0098586, GO:0061470, GO:0051607, GO:0050729, GO:0048469, GO:0045954, GO:0045954, GO:0042531, GO:0042102, GO:0038114, GO:0034105, GO:0032740, GO:0032729, GO:0030890, GO:0008284, GO:0007260, GO:0007165, GO:0002377, GO:0002314, GO:0001819, cellular response to virus, T follicular helper cell differentiation, defense response to virus, positive regulation of inflammatory response, cell maturation, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of T cell proliferation, interleukin-21-mediated signaling pathway, positive regulation of tissue remodeling, positive regulation of interleukin-17 production, positive regulation of interferon-gamma production, positive regulation of B cell proliferation, positive regulation of cell population proliferation, tyrosine phosphorylation of STAT protein, signal transduction, immunoglobulin production, germinal center B cell differentiation, positive regulation of cytokine production, 0 1 0 2 0 0 0 0 2 ENSG00000138685 chr4 122826708 122898236 + FGF2 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008]. 2247 GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0090722, GO:0042802, GO:0042056, GO:0030374, GO:0019956, GO:0008201, GO:0008083, GO:0008083, GO:0005515, GO:0005178, GO:0005125, GO:0005104, GO:0005104, receptor-receptor interaction, identical protein binding, chemoattractant activity, nuclear receptor coactivator activity, chemokine binding, heparin binding, growth factor activity, growth factor activity, protein binding, integrin binding, cytokine activity, fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:2001028, GO:2000573, GO:2000573, GO:2000546, GO:2000544, GO:2000544, GO:1905564, GO:1905278, GO:1904707, GO:1903672, GO:1903672, GO:1903587, GO:1902895, GO:1902748, GO:0090050, GO:0090049, GO:0072089, GO:0070374, GO:0061045, GO:0060591, GO:0060548, GO:0060045, GO:0051897, GO:0051897, GO:0051781, GO:0051209, GO:0050918, GO:0050679, GO:0048598, GO:0045944, GO:0045944, GO:0045893, GO:0045766, GO:0045766, GO:0045765, GO:0043552, GO:0043537, GO:0043536, GO:0043536, GO:0043410, GO:0043406, GO:0043406, GO:0042660, GO:0042060, GO:0042060, GO:0042060, GO:0040037, GO:0038001, GO:0035019, GO:0032958, GO:0030334, GO:0030324, GO:0030214, GO:0030198, GO:0030154, GO:0019221, GO:0014843, GO:0014068, GO:0010863, GO:0010764, GO:0010629, GO:0010628, GO:0010595, GO:0010595, GO:0009887, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0008284, GO:0007399, GO:0007265, GO:0007165, GO:0006935, GO:0006661, GO:0002042, GO:0002042, GO:0001938, GO:0001938, GO:0001934, GO:0001658, GO:0000187, GO:0000165, positive regulation of endothelial cell chemotaxis, positive regulation of DNA biosynthetic process, positive regulation of DNA biosynthetic process, positive regulation of endothelial cell chemotaxis to fibroblast growth factor, regulation of endothelial cell chemotaxis to fibroblast growth factor, regulation of endothelial cell chemotaxis to fibroblast growth factor, positive regulation of vascular endothelial cell proliferation, positive regulation of epithelial tube formation, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of sprouting angiogenesis, positive regulation of sprouting angiogenesis, regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of lens fiber cell differentiation, positive regulation of cell migration involved in sprouting angiogenesis, regulation of cell migration involved in sprouting angiogenesis, stem cell proliferation, positive regulation of ERK1 and ERK2 cascade, negative regulation of wound healing, chondroblast differentiation, negative regulation of cell death, positive regulation of cardiac muscle cell proliferation, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of cell division, release of sequestered calcium ion into cytosol, positive chemotaxis, positive regulation of epithelial cell proliferation, embryonic morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of angiogenesis, positive regulation of angiogenesis, regulation of angiogenesis, positive regulation of phosphatidylinositol 3-kinase activity, negative regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, positive regulation of MAP kinase activity, positive regulation of cell fate specification, wound healing, wound healing, wound healing, negative regulation of fibroblast growth factor receptor signaling pathway, paracrine signaling, somatic stem cell population maintenance, inositol phosphate biosynthetic process, regulation of cell migration, lung development, hyaluronan catabolic process, extracellular matrix organization, cell differentiation, cytokine-mediated signaling pathway, growth factor dependent regulation of skeletal muscle satellite cell proliferation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phospholipase C activity, negative regulation of fibroblast migration, negative regulation of gene expression, positive regulation of gene expression, positive regulation of endothelial cell migration, positive regulation of endothelial cell migration, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, nervous system development, Ras protein signal transduction, signal transduction, chemotaxis, phosphatidylinositol biosynthetic process, cell migration involved in sprouting angiogenesis, cell migration involved in sprouting angiogenesis, positive regulation of endothelial cell proliferation, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, branching involved in ureteric bud morphogenesis, activation of MAPK activity, MAPK cascade, 0 0 0 0 0 0 1 0 0 ENSG00000138686 chr4 121824440 121870497 - BBS7 protein_coding This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]. 55212 GO:0060170, GO:0043005, GO:0036064, GO:0034464, GO:0034464, GO:0016020, GO:0005930, GO:0005829, GO:0005813, GO:0005634, GO:0001750, ciliary membrane, neuron projection, ciliary basal body, BBSome, BBSome, membrane, axoneme, cytosol, centrosome, nucleus, photoreceptor outer segment, GO:0005515, GO:0001103, protein binding, RNA polymerase II repressing transcription factor binding, GO:1905515, GO:1903929, GO:0060271, GO:0060271, GO:0060173, GO:0051877, GO:0048546, GO:0046907, GO:0045444, GO:0032436, GO:0032402, GO:0015031, GO:0008104, GO:0007601, GO:0007420, GO:0007368, GO:0007224, GO:0006357, GO:0001947, GO:0001654, non-motile cilium assembly, primary palate development, cilium assembly, cilium assembly, limb development, pigment granule aggregation in cell center, digestive tract morphogenesis, intracellular transport, fat cell differentiation, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, melanosome transport, protein transport, protein localization, visual perception, brain development, determination of left/right symmetry, smoothened signaling pathway, regulation of transcription by RNA polymerase II, heart looping, eye development, 24 35 39 32 16 60 22 13 28 ENSG00000138688 chr4 122152333 122362758 + KIAA1109 protein_coding This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]. 84162 GO:0098793, GO:0016021, GO:0016020, GO:0005634, presynapse, integral component of membrane, membrane, nucleus, GO:0005515, protein binding, GO:0048488, GO:0032456, GO:0030856, GO:0016197, GO:0006909, GO:0001558, synaptic vesicle endocytosis, endocytic recycling, regulation of epithelial cell differentiation, endosomal transport, phagocytosis, regulation of cell growth, 3724 3760 4559 1903 2478 2692 2137 1862 2250 ENSG00000138696 chr4 94757968 95158448 + BMPR1B protein_coding This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 658 GO:1990712, GO:0043235, GO:0043235, GO:0043025, GO:0030425, GO:0005887, GO:0005886, GO:0005886, GO:0005886, HFE-transferrin receptor complex, receptor complex, receptor complex, neuronal cell body, dendrite, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0046872, GO:0046332, GO:0046332, GO:0005524, GO:0005515, GO:0005025, GO:0004675, GO:0004675, GO:0004674, GO:0004674, metal ion binding, SMAD binding, SMAD binding, ATP binding, protein binding, transforming growth factor beta receptor activity, type I, transmembrane receptor protein serine/threonine kinase activity, transmembrane receptor protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1902731, GO:1902043, GO:0071773, GO:0071363, GO:0061036, GO:0060350, GO:0060041, GO:0045944, GO:0045669, GO:0045597, GO:0042698, GO:0035108, GO:0032332, GO:0031290, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030501, GO:0030166, GO:0009953, GO:0006954, GO:0006468, GO:0006468, GO:0002063, GO:0001654, GO:0001550, GO:0001502, GO:0001501, negative regulation of chondrocyte proliferation, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, cellular response to BMP stimulus, cellular response to growth factor stimulus, positive regulation of cartilage development, endochondral bone morphogenesis, retina development in camera-type eye, positive regulation of transcription by RNA polymerase II, positive regulation of osteoblast differentiation, positive regulation of cell differentiation, ovulation cycle, limb morphogenesis, positive regulation of chondrocyte differentiation, retinal ganglion cell axon guidance, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, proteoglycan biosynthetic process, dorsal/ventral pattern formation, inflammatory response, protein phosphorylation, protein phosphorylation, chondrocyte development, eye development, ovarian cumulus expansion, cartilage condensation, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000138698 chr4 98261384 98443861 + RAP1GDS1 protein_coding The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]. 5910 GO:0070062, GO:0005829, GO:0005829, GO:0005783, GO:0005739, extracellular exosome, cytosol, cytosol, endoplasmic reticulum, mitochondrion, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0051561, GO:0043547, GO:0032471, positive regulation of mitochondrial calcium ion concentration, positive regulation of GTPase activity, negative regulation of endoplasmic reticulum calcium ion concentration, 28 29 61 93 38 101 53 27 68 ENSG00000138709 chr4 128061268 128222931 + LARP1B protein_coding This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. [provided by RefSeq, Jun 2013]. 55132 GO:0005634, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, 34 27 60 40 20 40 33 21 56 ENSG00000138722 chr4 89879532 89954629 + MMRN1 protein_coding Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]. 22915 GO:0062023, GO:0031093, GO:0005576, collagen-containing extracellular matrix, platelet alpha granule lumen, extracellular region, GO:0005515, GO:0005509, GO:0005201, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0007596, GO:0007155, GO:0002576, blood coagulation, cell adhesion, platelet degranulation, 1 0 3 1 1 1 0 4 0 ENSG00000138735 chr4 119494395 119628991 - PDE5A protein_coding This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 8654 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0047555, GO:0047555, GO:0046872, GO:0030553, GO:0005515, GO:0004114, GO:0004114, 3',5'-cyclic-GMP phosphodiesterase activity, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, cGMP binding, protein binding, 3',5'-cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0060282, GO:0055119, GO:0055118, GO:0046069, GO:0043406, GO:0042130, GO:0010749, GO:0010613, GO:0007165, positive regulation of oocyte development, relaxation of cardiac muscle, negative regulation of cardiac muscle contraction, cGMP catabolic process, positive regulation of MAP kinase activity, negative regulation of T cell proliferation, regulation of nitric oxide mediated signal transduction, positive regulation of cardiac muscle hypertrophy, signal transduction, 137 106 69 101 130 129 149 70 75 ENSG00000138738 chr4 120684919 120922870 - PRDM5 protein_coding The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]. 11107 GO:0016604, GO:0005730, GO:0005654, GO:0005634, GO:0005634, nuclear body, nucleolus, nucleoplasm, nucleus, nucleus, GO:0070491, GO:0070491, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0000978, GO:0000977, GO:0000976, repressing transcription factor binding, repressing transcription factor binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990830, GO:0051567, GO:0051567, GO:0045892, GO:0045892, GO:0016575, GO:0016575, GO:0010468, GO:0000278, GO:0000122, cellular response to leukemia inhibitory factor, histone H3-K9 methylation, histone H3-K9 methylation, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, histone deacetylation, histone deacetylation, regulation of gene expression, mitotic cell cycle, negative regulation of transcription by RNA polymerase II, 216 147 296 94 114 202 137 94 214 ENSG00000138741 chr4 121879027 121951754 - TRPC3 protein_coding The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 7222 GO:0034703, GO:0005887, GO:0005887, GO:0005886, cation channel complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0070679, GO:0070679, GO:0015279, GO:0005515, GO:0005262, inositol 1,4,5 trisphosphate binding, inositol 1,4,5 trisphosphate binding, store-operated calcium channel activity, protein binding, calcium channel activity, GO:1903244, GO:0070588, GO:0070588, GO:0070588, GO:0051592, GO:0051480, GO:0033198, GO:0030168, GO:0010524, GO:0007602, GO:0007338, GO:0006828, GO:0006816, positive regulation of cardiac muscle hypertrophy in response to stress, calcium ion transmembrane transport, calcium ion transmembrane transport, calcium ion transmembrane transport, response to calcium ion, regulation of cytosolic calcium ion concentration, response to ATP, platelet activation, positive regulation of calcium ion transport into cytosol, phototransduction, single fertilization, manganese ion transport, calcium ion transport, 0 0 1 0 0 0 0 0 0 ENSG00000138744 chr4 75913657 75941051 - NAAA protein_coding This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 27163 GO:0098793, GO:0070062, GO:0043202, GO:0019898, GO:0005764, GO:0005737, presynapse, extracellular exosome, lysosomal lumen, extrinsic component of membrane, lysosome, cytoplasm, GO:0102121, GO:0047412, GO:0017064, GO:0017040, GO:0016810, GO:0016810, GO:0008134, ceramidase activity, N-(long-chain-acyl)ethanolamine deacylase activity, fatty acid amide hydrolase activity, N-acylsphingosine amidohydrolase activity, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, transcription factor binding, GO:0070292, GO:0070291, GO:0016042, GO:0007269, GO:0006670, GO:0006631, GO:0006631, N-acylphosphatidylethanolamine metabolic process, N-acylethanolamine metabolic process, lipid catabolic process, neurotransmitter secretion, sphingosine metabolic process, fatty acid metabolic process, fatty acid metabolic process, 1870 159 128 423 112 143 548 126 106 ENSG00000138750 chr4 76114659 76148515 - NUP54 protein_coding The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]. 53371 GO:0044613, GO:0043657, GO:0031965, GO:0005635, nuclear pore central transport channel, host cell, nuclear membrane, nuclear envelope, GO:0044877, GO:0042802, GO:0017056, GO:0005515, protein-containing complex binding, identical protein binding, structural constituent of nuclear pore, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0042306, GO:0036228, GO:0019083, GO:0016925, GO:0016032, GO:0006999, GO:0006607, GO:0006605, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, regulation of protein import into nucleus, protein localization to nuclear inner membrane, viral transcription, protein sumoylation, viral process, nuclear pore organization, NLS-bearing protein import into nucleus, protein targeting, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 117 75 134 138 89 100 113 51 90 ENSG00000138755 chr4 76001275 76007488 - CXCL9 protein_coding This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded is thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils. [provided by RefSeq, Aug 2020]. 4283 GO:0009897, GO:0005615, GO:0005576, external side of plasma membrane, extracellular space, extracellular region, GO:0048248, GO:0045236, GO:0008009, GO:0008009, GO:0005515, GO:0005125, CXCR3 chemokine receptor binding, CXCR chemokine receptor binding, chemokine activity, chemokine activity, protein binding, cytokine activity, GO:1901741, GO:0071222, GO:0070098, GO:0061844, GO:0051607, GO:0051281, GO:0045663, GO:0042127, GO:0030593, GO:0007267, GO:0007189, GO:0007186, GO:0007165, GO:0006968, GO:0006954, GO:0006952, GO:0006935, positive regulation of myoblast fusion, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to virus, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of myoblast differentiation, regulation of cell population proliferation, neutrophil chemotaxis, cell-cell signaling, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cellular defense response, inflammatory response, defense response, chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000138756 chr4 78776342 78916372 + BMP2K protein_coding This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 55589 GO:0016607, GO:0005737, GO:0005634, nuclear speck, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0035612, GO:0019208, GO:0005524, GO:0004674, protein threonine kinase activity, protein serine kinase activity, AP-2 adaptor complex binding, phosphatase regulator activity, ATP binding, protein serine/threonine kinase activity, GO:2000369, GO:0050790, GO:0045747, GO:0030500, GO:0006468, regulation of clathrin-dependent endocytosis, regulation of catalytic activity, positive regulation of Notch signaling pathway, regulation of bone mineralization, protein phosphorylation, 855 1393 1717 602 1607 1453 609 1085 1082 ENSG00000138757 chr4 75642782 75724525 - G3BP2 protein_coding 9908 GO:1990904, GO:0010494, GO:0005829, GO:0005829, GO:0005737, ribonucleoprotein complex, cytoplasmic stress granule, cytosol, cytosol, cytoplasm, GO:0030159, GO:0005515, GO:0003729, GO:0003723, signaling receptor complex adaptor activity, protein binding, mRNA binding, RNA binding, GO:0062029, GO:0051260, GO:0051028, GO:0045087, GO:0034063, GO:0016032, GO:0007265, GO:0007253, positive regulation of stress granule assembly, protein homooligomerization, mRNA transport, innate immune response, stress granule assembly, viral process, Ras protein signal transduction, cytoplasmic sequestering of NF-kappaB, 1892 1715 2368 1358 1074 1435 1275 900 1036 ENSG00000138758 chr4 76949703 77040384 + SEPT11 protein_coding SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]. 55752 GO:0098978, GO:0043197, GO:0032153, GO:0031105, GO:0031105, GO:0031105, GO:0030424, GO:0015630, GO:0005940, GO:0001725, glutamatergic synapse, dendritic spine, cell division site, septin complex, septin complex, septin complex, axon, microtubule cytoskeleton, septin ring, stress fiber, GO:0060090, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, GTP binding, protein binding, GTPase activity, GO:0061640, GO:0034613, cytoskeleton-dependent cytokinesis, cellular protein localization, 50 62 104 107 50 93 122 54 111 ENSG00000138759 chr4 78057570 78544269 + FRAS1 protein_coding This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 80144 GO:0062023, GO:0016021, GO:0005886, GO:0005604, collagen-containing extracellular matrix, integral component of membrane, plasma membrane, basement membrane, GO:0046872, GO:0005201, metal ion binding, extracellular matrix structural constituent, GO:0060021, GO:0043588, GO:0030326, GO:0015031, GO:0007154, GO:0003338, GO:0002009, roof of mouth development, skin development, embryonic limb morphogenesis, protein transport, cell communication, metanephros morphogenesis, morphogenesis of an epithelium, 0 2 0 4 0 0 0 0 0 ENSG00000138760 chr4 76158733 76234536 - SCARB2 protein_coding The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]. 950 GO:0070062, GO:0043202, GO:0031902, GO:0030666, GO:0030665, GO:0016021, GO:0016020, GO:0010008, GO:0005925, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005765, GO:0005765, GO:0005765, GO:0005737, GO:0000139, extracellular exosome, lysosomal lumen, late endosome membrane, endocytic vesicle membrane, clathrin-coated vesicle membrane, integral component of membrane, membrane, endosome membrane, focal adhesion, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, cytoplasm, Golgi membrane, GO:0051087, GO:0042803, GO:0038024, GO:0031210, GO:0019899, GO:0015485, GO:0005515, GO:0005044, GO:0005044, GO:0005044, GO:0004888, GO:0001786, GO:0001618, chaperone binding, protein homodimerization activity, cargo receptor activity, phosphatidylcholine binding, enzyme binding, cholesterol binding, protein binding, scavenger receptor activity, scavenger receptor activity, scavenger receptor activity, transmembrane signaling receptor activity, phosphatidylserine binding, virus receptor activity, GO:1905671, GO:1905123, GO:1905123, GO:1904978, GO:0061024, GO:0046718, GO:0043471, GO:0015917, GO:0010976, GO:0006898, GO:0006898, GO:0006622, GO:0006622, GO:0006622, regulation of lysosome organization, regulation of glucosylceramidase activity, regulation of glucosylceramidase activity, regulation of endosome organization, membrane organization, viral entry into host cell, regulation of cellular carbohydrate catabolic process, aminophospholipid transport, positive regulation of neuron projection development, receptor-mediated endocytosis, receptor-mediated endocytosis, protein targeting to lysosome, protein targeting to lysosome, protein targeting to lysosome, 108 78 122 143 103 140 154 55 115 ENSG00000138764 chr4 77157151 77433388 + CCNG2 protein_coding The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq, Jul 2008]. 901 GO:0005737, GO:0005634, GO:0000307, cytoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, cyclin-dependent protein serine/threonine kinase regulator activity, GO:0051301, GO:0044772, GO:0000079, cell division, mitotic cell cycle phase transition, regulation of cyclin-dependent protein serine/threonine kinase activity, 1839 2837 2252 583 1810 1176 769 1646 1023 ENSG00000138767 chr4 77713387 77819615 - CNOT6L protein_coding 246175 GO:0030014, GO:0030014, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, CCR4-NOT complex, CCR4-NOT complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0004535, GO:0004535, GO:0000175, metal ion binding, protein binding, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, 3'-5'-exoribonuclease activity, GO:0090503, GO:0061157, GO:0031047, GO:0010606, GO:0008284, GO:0006977, GO:0006397, GO:0000289, GO:0000289, RNA phosphodiester bond hydrolysis, exonucleolytic, mRNA destabilization, gene silencing by RNA, positive regulation of cytoplasmic mRNA processing body assembly, positive regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, mRNA processing, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, 1388 1481 2271 709 769 1001 708 632 843 ENSG00000138768 chr4 75724593 75814286 + USO1 protein_coding The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 8615 GO:0030133, GO:0016020, GO:0012507, GO:0012507, GO:0005829, GO:0005795, GO:0005794, GO:0005783, GO:0001650, GO:0000139, transport vesicle, membrane, ER to Golgi transport vesicle membrane, ER to Golgi transport vesicle membrane, cytosol, Golgi stack, Golgi apparatus, endoplasmic reticulum, fibrillar center, Golgi membrane, GO:0045296, GO:0005515, GO:0003723, cadherin binding, protein binding, RNA binding, GO:0061025, GO:0048280, GO:0048211, GO:0048208, GO:0045056, GO:0006888, GO:0006888, GO:0006888, GO:0006886, membrane fusion, vesicle fusion with Golgi apparatus, Golgi vesicle docking, COPII vesicle coating, transcytosis, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 414 443 474 456 529 585 455 371 410 ENSG00000138769 chr4 75578005 75630716 - CDKL2 protein_coding This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]. 8999 GO:0005813, GO:0005737, GO:0005654, GO:0005634, centrosome, cytoplasm, nucleoplasm, nucleus, GO:0005524, GO:0004693, GO:0004672, ATP binding, cyclin-dependent protein serine/threonine kinase activity, protein kinase activity, GO:0051726, GO:0007548, GO:0007165, GO:0006468, regulation of cell cycle, sex differentiation, signal transduction, protein phosphorylation, 2 0 0 0 0 0 0 0 5 ENSG00000138771 chr4 76435100 76783253 + SHROOM3 protein_coding This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]. 57619 GO:0043296, GO:0043296, GO:0030864, GO:0016324, GO:0016324, GO:0005912, GO:0005912, GO:0005874, GO:0005856, apical junction complex, apical junction complex, cortical actin cytoskeleton, apical plasma membrane, apical plasma membrane, adherens junction, adherens junction, microtubule, cytoskeleton, GO:0051015, actin filament binding, GO:0045176, GO:0043482, GO:0008360, GO:0007389, GO:0007015, GO:0002064, GO:0001843, GO:0000902, apical protein localization, cellular pigment accumulation, regulation of cell shape, pattern specification process, actin filament organization, epithelial cell development, neural tube closure, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000138772 chr4 78551519 78610451 + ANXA3 protein_coding This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]. 306 GO:0070062, GO:0043025, GO:0042581, GO:0030670, GO:0030425, GO:0030424, GO:0016020, GO:0005886, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, neuronal cell body, specific granule, phagocytic vesicle membrane, dendrite, axon, membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0048306, GO:0019834, GO:0005544, GO:0005509, calcium-dependent protein binding, phospholipase A2 inhibitor activity, calcium-dependent phospholipid binding, calcium ion binding, GO:0070848, GO:0051384, GO:0051091, GO:0051054, GO:0045766, GO:0043312, GO:0043086, GO:0042742, GO:0031100, GO:0021766, GO:0010595, GO:0006909, response to growth factor, response to glucocorticoid, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA metabolic process, positive regulation of angiogenesis, neutrophil degranulation, negative regulation of catalytic activity, defense response to bacterium, animal organ regeneration, hippocampus development, positive regulation of endothelial cell migration, phagocytosis, 1099 394 1267 556 448 853 616 399 828 ENSG00000138777 chr4 105369077 105474081 - PPA2 protein_coding The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 27068 GO:0005829, GO:0005759, cytosol, mitochondrial matrix, GO:0004722, GO:0004427, GO:0004427, GO:0000287, protein serine/threonine phosphatase activity, inorganic diphosphatase activity, inorganic diphosphatase activity, magnesium ion binding, GO:0071344, GO:0051881, GO:0006796, GO:0006470, GO:0006418, diphosphate metabolic process, regulation of mitochondrial membrane potential, phosphate-containing compound metabolic process, protein dephosphorylation, tRNA aminoacylation for protein translation, 59 54 64 72 53 128 86 63 96 ENSG00000138778 chr4 103105806 103198409 - CENPE protein_coding Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]. 1062 GO:1990023, GO:0051233, GO:0030496, GO:0016020, GO:0015630, GO:0005874, GO:0005874, GO:0005829, GO:0005829, GO:0005828, GO:0005694, GO:0005654, GO:0005634, GO:0000779, GO:0000777, GO:0000776, GO:0000775, mitotic spindle midzone, spindle midzone, midbody, membrane, microtubule cytoskeleton, microtubule, microtubule, cytosol, cytosol, kinetochore microtubule, chromosome, nucleoplasm, nucleus, condensed chromosome, centromeric region, condensed chromosome kinetochore, kinetochore, chromosome, centromeric region, GO:0043515, GO:0008574, GO:0008017, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003777, kinetochore binding, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, microtubule motor activity, GO:0099607, GO:0099606, GO:0051382, GO:0051315, GO:0051310, GO:0051301, GO:0045860, GO:0030071, GO:0019886, GO:0007275, GO:0007080, GO:0007079, GO:0007059, GO:0007052, GO:0007018, GO:0007018, GO:0006890, GO:0000278, GO:0000278, lateral attachment of mitotic spindle microtubules to kinetochore, microtubule plus-end directed mitotic chromosome migration, kinetochore assembly, attachment of mitotic spindle microtubules to kinetochore, metaphase plate congression, cell division, positive regulation of protein kinase activity, regulation of mitotic metaphase/anaphase transition, antigen processing and presentation of exogenous peptide antigen via MHC class II, multicellular organism development, mitotic metaphase plate congression, mitotic chromosome movement towards spindle pole, chromosome segregation, mitotic spindle organization, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, mitotic cell cycle, mitotic cell cycle, 17 17 44 10 11 9 10 8 7 ENSG00000138780 chr4 105708778 105847728 + GSTCD protein_coding 79807 GO:0070062, GO:0005737, GO:0005737, extracellular exosome, cytoplasm, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 6 6 18 8 5 9 6 3 6 ENSG00000138785 chr4 105682627 105895986 - INTS12 protein_coding INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]. 57117 GO:0032039, GO:0032039, GO:0005654, GO:0005634, integrator complex, integrator complex, nucleoplasm, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0042795, GO:0034472, GO:0016180, snRNA transcription by RNA polymerase II, snRNA 3'-end processing, snRNA processing, 178 159 165 148 162 188 126 128 108 ENSG00000138792 chr4 110365733 110565285 + ENPEP protein_coding The ENPEP gene encodes glutamyl aminopeptidase, a type II integral membrane protein with an extracellular zinc-binding domain. This protein can upregulate blood pressure by cleaving the N-terminal aspartate from angiotensin II, and can regulate blood vessel formation and enhance tumorigenesis in some tissues. Along with ANPEP and DPP4, ENPEP was found to be a candidate co-receptor for the coronavirus SARS-CoV-2, which causes COVID-19. [provided by RefSeq, Apr 2020]. 2028 GO:0070062, GO:0045177, GO:0031410, GO:0016324, GO:0009897, GO:0005903, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005765, GO:0005737, extracellular exosome, apical part of cell, cytoplasmic vesicle, apical plasma membrane, external side of plasma membrane, brush border, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, cytoplasm, GO:0070006, GO:0070006, GO:0070006, GO:0042277, GO:0008270, GO:0004177, metalloaminopeptidase activity, metalloaminopeptidase activity, metalloaminopeptidase activity, peptide binding, zinc ion binding, aminopeptidase activity, GO:0043171, GO:0032835, GO:0016477, GO:0008283, GO:0008217, GO:0007267, GO:0007165, GO:0006508, GO:0003081, GO:0003081, GO:0002003, GO:0002003, GO:0001525, peptide catabolic process, glomerulus development, cell migration, cell population proliferation, regulation of blood pressure, cell-cell signaling, signal transduction, proteolysis, regulation of systemic arterial blood pressure by renin-angiotensin, regulation of systemic arterial blood pressure by renin-angiotensin, angiotensin maturation, angiotensin maturation, angiogenesis, 0 0 1 6 0 0 0 0 0 ENSG00000138794 chr4 109688622 109703583 - CASP6 protein_coding This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]. 839 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0097200, GO:0097200, GO:0097153, GO:0042802, GO:0008234, GO:0005515, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic process, identical protein binding, cysteine-type peptidase activity, protein binding, GO:0097194, GO:0072734, GO:0042981, GO:0030855, GO:0006915, GO:0006508, execution phase of apoptosis, cellular response to staurosporine, regulation of apoptotic process, epithelial cell differentiation, apoptotic process, proteolysis, 13 0 9 16 5 20 19 11 13 ENSG00000138795 chr4 108047545 108168956 - LEF1 protein_coding This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 51176 GO:1990907, GO:1990907, GO:0032993, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, beta-catenin-TCF complex, beta-catenin-TCF complex, protein-DNA complex, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0070742, GO:0070016, GO:0045295, GO:0043565, GO:0042826, GO:0042393, GO:0030331, GO:0030284, GO:0008301, GO:0008013, GO:0008013, GO:0008013, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, C2H2 zinc finger domain binding, armadillo repeat domain binding, gamma-catenin binding, sequence-specific DNA binding, histone deacetylase binding, histone binding, estrogen receptor binding, estrogen receptor activity, DNA binding, bending, beta-catenin binding, beta-catenin binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1904837, GO:1902262, GO:0071899, GO:0071866, GO:0071864, GO:0071353, GO:0071345, GO:0062009, GO:0061153, GO:0060710, GO:0060326, GO:0060325, GO:0060070, GO:0060070, GO:0060033, GO:0050909, GO:0048341, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045843, GO:0045588, GO:0045063, GO:0043967, GO:0043966, GO:0043923, GO:0043586, GO:0043401, GO:0043392, GO:0043066, GO:0042475, GO:0042100, GO:0033153, GO:0032714, GO:0032713, GO:0032696, GO:0030879, GO:0030854, GO:0030854, GO:0030509, GO:0030335, GO:0030326, GO:0030223, GO:0030111, GO:0021943, GO:0021873, GO:0021861, GO:0021542, GO:0010718, GO:0010628, GO:0008284, GO:0007223, GO:0006357, GO:0002040, GO:0001837, GO:0001756, GO:0001649, GO:0001569, GO:0000122, beta-catenin-TCF complex assembly, apoptotic process involved in blood vessel morphogenesis, negative regulation of estrogen receptor binding, negative regulation of apoptotic process in bone marrow cell, positive regulation of cell proliferation in bone marrow, cellular response to interleukin-4, cellular response to cytokine stimulus, secondary palate development, trachea gland development, chorio-allantoic fusion, cell chemotaxis, face morphogenesis, canonical Wnt signaling pathway, canonical Wnt signaling pathway, anatomical structure regression, sensory perception of taste, paraxial mesoderm formation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of striated muscle tissue development, positive regulation of gamma-delta T cell differentiation, T-helper 1 cell differentiation, histone H4 acetylation, histone H3 acetylation, positive regulation by host of viral transcription, tongue development, steroid hormone mediated signaling pathway, negative regulation of DNA binding, negative regulation of apoptotic process, odontogenesis of dentin-containing tooth, B cell proliferation, T cell receptor V(D)J recombination, negative regulation of interleukin-5 production, negative regulation of interleukin-4 production, negative regulation of interleukin-13 production, mammary gland development, positive regulation of granulocyte differentiation, positive regulation of granulocyte differentiation, BMP signaling pathway, positive regulation of cell migration, embryonic limb morphogenesis, neutrophil differentiation, regulation of Wnt signaling pathway, formation of radial glial scaffolds, forebrain neuroblast division, forebrain radial glial cell differentiation, dentate gyrus development, positive regulation of epithelial to mesenchymal transition, positive regulation of gene expression, positive regulation of cell population proliferation, Wnt signaling pathway, calcium modulating pathway, regulation of transcription by RNA polymerase II, sprouting angiogenesis, epithelial to mesenchymal transition, somitogenesis, osteoblast differentiation, branching involved in blood vessel morphogenesis, negative regulation of transcription by RNA polymerase II, 112 73 217 434 104 460 364 103 275 ENSG00000138796 chr4 107989714 108035175 + HADH protein_coding This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]. 3033 GO:0005759, GO:0005739, GO:0005737, GO:0005654, mitochondrial matrix, mitochondrion, cytoplasm, nucleoplasm, GO:0070403, GO:0042802, GO:0016740, GO:0003857, NAD+ binding, identical protein binding, transferase activity, 3-hydroxyacyl-CoA dehydrogenase activity, GO:0120162, GO:0050796, GO:0046676, GO:0042493, GO:0032868, GO:0014823, GO:0006635, GO:0006635, GO:0006635, positive regulation of cold-induced thermogenesis, regulation of insulin secretion, negative regulation of insulin secretion, response to drug, response to insulin, response to activity, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, 13 6 19 31 27 48 41 8 42 ENSG00000138798 chr4 109912884 110012266 + EGF protein_coding This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 1950 GO:0070062, GO:0070062, GO:0031093, GO:0030665, GO:0016021, GO:0005886, GO:0005765, GO:0005615, GO:0005576, extracellular exosome, extracellular exosome, platelet alpha granule lumen, clathrin-coated vesicle membrane, integral component of membrane, plasma membrane, lysosomal membrane, extracellular space, extracellular region, GO:0030297, GO:0008083, GO:0005515, GO:0005509, GO:0005154, GO:0005085, transmembrane receptor protein tyrosine kinase activator activity, growth factor activity, protein binding, calcium ion binding, epidermal growth factor receptor binding, guanyl-nucleotide exchange factor activity, GO:2000145, GO:2000060, GO:2000008, GO:1905278, GO:1902966, GO:1901185, GO:1900127, GO:0090370, GO:0090279, GO:0090263, GO:0070371, GO:0061024, GO:0060749, GO:0051897, GO:0051897, GO:0051048, GO:0048754, GO:0046425, GO:0045893, GO:0045840, GO:0045746, GO:0045741, GO:0045741, GO:0045741, GO:0045740, GO:0043410, GO:0043406, GO:0043388, GO:0042327, GO:0042059, GO:0038128, GO:0038029, GO:0030335, GO:0021940, GO:0018108, GO:0014068, GO:0010800, GO:0010628, GO:0010595, GO:0008284, GO:0007173, GO:0007173, GO:0007171, GO:0007165, GO:0002576, GO:0002092, GO:0001938, GO:0001525, GO:0000187, GO:0000186, GO:0000165, regulation of cell motility, positive regulation of ubiquitin-dependent protein catabolic process, regulation of protein localization to cell surface, positive regulation of epithelial tube formation, positive regulation of protein localization to early endosome, negative regulation of ERBB signaling pathway, positive regulation of hyaluronan biosynthetic process, negative regulation of cholesterol efflux, regulation of calcium ion import, positive regulation of canonical Wnt signaling pathway, ERK1 and ERK2 cascade, membrane organization, mammary gland alveolus development, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, negative regulation of secretion, branching morphogenesis of an epithelial tube, regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription, DNA-templated, positive regulation of mitotic nuclear division, negative regulation of Notch signaling pathway, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of DNA replication, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, positive regulation of DNA binding, positive regulation of phosphorylation, negative regulation of epidermal growth factor receptor signaling pathway, ERBB2 signaling pathway, epidermal growth factor receptor signaling pathway via MAPK cascade, positive regulation of cell migration, positive regulation of cerebellar granule cell precursor proliferation, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of peptidyl-threonine phosphorylation, positive regulation of gene expression, positive regulation of endothelial cell migration, positive regulation of cell population proliferation, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, activation of transmembrane receptor protein tyrosine kinase activity, signal transduction, platelet degranulation, positive regulation of receptor internalization, positive regulation of endothelial cell proliferation, angiogenesis, activation of MAPK activity, activation of MAPKK activity, MAPK cascade, 2 0 0 1 4 6 1 0 0 ENSG00000138801 chr4 107590276 107720452 - PAPSS1 protein_coding Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]. 9061 GO:0005829, cytosol, GO:0042803, GO:0016779, GO:0005524, GO:0004781, GO:0004781, GO:0004020, GO:0004020, protein homodimerization activity, nucleotidyltransferase activity, ATP binding, sulfate adenylyltransferase (ATP) activity, sulfate adenylyltransferase (ATP) activity, adenylylsulfate kinase activity, adenylylsulfate kinase activity, GO:0050428, GO:0050428, GO:0050428, GO:0016310, GO:0001501, GO:0000103, GO:0000103, GO:0000103, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, phosphorylation, skeletal system development, sulfate assimilation, sulfate assimilation, sulfate assimilation, 179 561 234 94 332 91 110 349 80 ENSG00000138802 chr4 109433772 109540896 + SEC24B protein_coding The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 10427 GO:0070971, GO:0030127, GO:0030127, GO:0012507, GO:0005829, GO:0005829, GO:0005789, GO:0000139, endoplasmic reticulum exit site, COPII vesicle coat, COPII vesicle coat, ER to Golgi transport vesicle membrane, cytosol, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0008270, GO:0008270, GO:0005515, GO:0000149, zinc ion binding, zinc ion binding, protein binding, SNARE binding, GO:1901301, GO:0090178, GO:0090110, GO:0090110, GO:0061156, GO:0060982, GO:0060463, GO:0060088, GO:0048208, GO:0035909, GO:0021747, GO:0019886, GO:0006888, GO:0006888, GO:0006886, GO:0003151, GO:0002474, GO:0001843, regulation of cargo loading into COPII-coated vesicle, regulation of establishment of planar polarity involved in neural tube closure, COPII-coated vesicle cargo loading, COPII-coated vesicle cargo loading, pulmonary artery morphogenesis, coronary artery morphogenesis, lung lobe morphogenesis, auditory receptor cell stereocilium organization, COPII vesicle coating, aorta morphogenesis, cochlear nucleus development, antigen processing and presentation of exogenous peptide antigen via MHC class II, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, outflow tract morphogenesis, antigen processing and presentation of peptide antigen via MHC class I, neural tube closure, 750 616 1167 486 623 637 476 461 512 ENSG00000138813 chr4 99511004 99542303 + C4orf17 protein_coding 84103 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000138814 chr4 101023409 101348278 - PPP3CA protein_coding 5530 GO:0098978, GO:0098685, GO:0043197, GO:0042383, GO:0036057, GO:0030018, GO:0019897, GO:0009898, GO:0005955, GO:0005955, GO:0005955, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005654, glutamatergic synapse, Schaffer collateral - CA1 synapse, dendritic spine, sarcolemma, slit diaphragm, Z disc, extrinsic component of plasma membrane, cytoplasmic side of plasma membrane, calcineurin complex, calcineurin complex, calcineurin complex, plasma membrane, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, GO:0106307, GO:0106306, GO:0051117, GO:0046983, GO:0044877, GO:0033192, GO:0033192, GO:0033192, GO:0019899, GO:0016018, GO:0005516, GO:0005516, GO:0005516, GO:0005515, GO:0005509, GO:0004722, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, ATPase binding, protein dimerization activity, protein-containing complex binding, calmodulin-dependent protein phosphatase activity, calmodulin-dependent protein phosphatase activity, calmodulin-dependent protein phosphatase activity, enzyme binding, cyclosporin A binding, calmodulin binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:1905205, GO:1903799, GO:1903244, GO:0099170, GO:0097720, GO:0097720, GO:0071333, GO:0070262, GO:0060079, GO:0051592, GO:0051091, GO:0050774, GO:0048741, GO:0046676, GO:0045944, GO:0045807, GO:0045785, GO:0043403, GO:0042110, GO:0042060, GO:0038095, GO:0035562, GO:0033555, GO:0033173, GO:0033173, GO:0033173, GO:0030335, GO:0016311, GO:0014898, GO:0014883, GO:0007568, GO:0007420, GO:0007223, GO:0006816, GO:0006606, GO:0006470, GO:0006470, GO:0006470, GO:0001975, GO:0000082, positive regulation of connective tissue replacement, negative regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of cardiac muscle hypertrophy in response to stress, postsynaptic modulation of chemical synaptic transmission, calcineurin-mediated signaling, calcineurin-mediated signaling, cellular response to glucose stimulus, peptidyl-serine dephosphorylation, excitatory postsynaptic potential, response to calcium ion, positive regulation of DNA-binding transcription factor activity, negative regulation of dendrite morphogenesis, skeletal muscle fiber development, negative regulation of insulin secretion, positive regulation of transcription by RNA polymerase II, positive regulation of endocytosis, positive regulation of cell adhesion, skeletal muscle tissue regeneration, T cell activation, wound healing, Fc-epsilon receptor signaling pathway, negative regulation of chromatin binding, multicellular organismal response to stress, calcineurin-NFAT signaling cascade, calcineurin-NFAT signaling cascade, calcineurin-NFAT signaling cascade, positive regulation of cell migration, dephosphorylation, cardiac muscle hypertrophy in response to stress, transition between fast and slow fiber, aging, brain development, Wnt signaling pathway, calcium modulating pathway, calcium ion transport, protein import into nucleus, protein dephosphorylation, protein dephosphorylation, protein dephosphorylation, response to amphetamine, G1/S transition of mitotic cell cycle, 1865 1768 2189 869 1327 1233 986 1057 1054 ENSG00000138821 chr4 102251041 102431258 - SLC39A8 protein_coding This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]. 64116 GO:0031090, GO:0016324, GO:0016323, GO:0005887, GO:0005886, GO:0005886, GO:0005765, organelle membrane, apical plasma membrane, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, GO:0140412, GO:0097079, GO:0015296, GO:0015106, GO:0015087, GO:0015086, GO:0005385, GO:0005385, GO:0005385, GO:0005384, GO:0005381, zinc:bicarbonate symporter activity, selenite:proton symporter activity, anion:cation symporter activity, bicarbonate transmembrane transporter activity, cobalt ion transmembrane transporter activity, cadmium ion transmembrane transporter activity, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, manganese ion transmembrane transporter activity, iron ion transmembrane transporter activity, GO:1990540, GO:1990079, GO:0098711, GO:0097080, GO:0071578, GO:0071578, GO:0071577, GO:0071577, GO:0071421, GO:0070574, GO:0061757, GO:0042391, GO:0030198, GO:0030026, GO:0015701, GO:0015698, GO:0006882, GO:0006882, GO:0006876, GO:0006829, GO:0006824, GO:0006525, GO:0006487, GO:0006355, GO:0006351, mitochondrial manganese ion transmembrane transport, cartilage homeostasis, iron ion import across plasma membrane, plasma membrane selenite transport, zinc ion import across plasma membrane, zinc ion import across plasma membrane, zinc ion transmembrane transport, zinc ion transmembrane transport, manganese ion transmembrane transport, cadmium ion transmembrane transport, leukocyte adhesion to arterial endothelial cell, regulation of membrane potential, extracellular matrix organization, cellular manganese ion homeostasis, bicarbonate transport, inorganic anion transport, cellular zinc ion homeostasis, cellular zinc ion homeostasis, cellular cadmium ion homeostasis, zinc ion transport, cobalt ion transport, arginine metabolic process, protein N-linked glycosylation, regulation of transcription, DNA-templated, transcription, DNA-templated, 27 15 60 111 28 118 67 17 41 ENSG00000138823 chr4 99563761 99623999 + MTTP protein_coding MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]. 4547 GO:0043235, GO:0016323, GO:0005794, GO:0005794, GO:0005788, GO:0005783, GO:0005783, receptor complex, basolateral plasma membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:1904121, GO:1902388, GO:0140344, GO:0140344, GO:0120020, GO:0120020, GO:0120019, GO:0120019, GO:0120014, GO:0046982, GO:0008289, GO:0005548, GO:0005515, GO:0005319, phosphatidylethanolamine transfer activity, ceramide 1-phosphate transfer activity, triglyceride transfer activity, triglyceride transfer activity, cholesterol transfer activity, cholesterol transfer activity, phosphatidylcholine transfer activity, phosphatidylcholine transfer activity, phospholipid transfer activity, protein heterodimerization activity, lipid binding, phospholipid transporter activity, protein binding, lipid transporter activity, GO:1902389, GO:0120009, GO:0042632, GO:0042157, GO:0034379, GO:0034378, GO:0034377, GO:0034377, GO:0034197, GO:0034197, GO:0015918, GO:0015914, GO:0009306, GO:0009306, GO:0006629, ceramide 1-phosphate transport, intermembrane lipid transfer, cholesterol homeostasis, lipoprotein metabolic process, very-low-density lipoprotein particle assembly, chylomicron assembly, plasma lipoprotein particle assembly, plasma lipoprotein particle assembly, triglyceride transport, triglyceride transport, sterol transport, phospholipid transport, protein secretion, protein secretion, lipid metabolic process, 2 0 5 2 6 0 3 0 1 ENSG00000138829 chr5 128257909 128659185 - FBN2 protein_coding The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]. 2201 GO:0062023, GO:0031012, GO:0005576, GO:0001527, GO:0001527, collagen-containing extracellular matrix, extracellular matrix, extracellular region, microfibril, microfibril, GO:0030023, GO:0005515, GO:0005509, GO:0005201, GO:0005201, extracellular matrix constituent conferring elasticity, protein binding, calcium ion binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0060346, GO:0048048, GO:0045669, GO:0043010, GO:0035583, GO:0030501, GO:0030326, GO:0030198, GO:0009653, bone trabecula formation, embryonic eye morphogenesis, positive regulation of osteoblast differentiation, camera-type eye development, sequestering of TGFbeta in extracellular matrix, positive regulation of bone mineralization, embryonic limb morphogenesis, extracellular matrix organization, anatomical structure morphogenesis, 13 45 9 9 19 2 9 28 3 ENSG00000138834 chr16 1706183 1770317 + MAPK8IP3 protein_coding The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. 23162 GO:1904115, GO:0048471, GO:0044297, GO:0031410, GO:0030426, GO:0030425, GO:0030424, GO:0005737, GO:0000139, axon cytoplasm, perinuclear region of cytoplasm, cell body, cytoplasmic vesicle, growth cone, dendrite, axon, cytoplasm, Golgi membrane, GO:0030159, GO:0019894, GO:0019894, GO:0008432, GO:0005515, GO:0005078, GO:0005078, signaling receptor complex adaptor activity, kinesin binding, kinesin binding, JUN kinase binding, protein binding, MAP-kinase scaffold activity, MAP-kinase scaffold activity, GO:0099641, GO:0061564, GO:0046328, GO:0031103, GO:0016192, GO:0016192, GO:0007257, GO:0007257, anterograde axonal protein transport, axon development, regulation of JNK cascade, axon regeneration, vesicle-mediated transport, vesicle-mediated transport, activation of JUN kinase activity, activation of JUN kinase activity, 1238 1728 1320 1896 2611 1634 1763 1818 1339 ENSG00000138835 chr9 113444731 113597743 + RGS3 protein_coding This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]. 5998 GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005634, plasma membrane, plasma membrane, plasma membrane, cytosol, nucleus, GO:0005515, GO:0005096, GO:0003924, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0008277, GO:0007186, GO:0007165, GO:0000188, positive regulation of GTPase activity, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inactivation of MAPK activity, 483 345 915 174 296 356 215 267 323 ENSG00000138867 chr22 24540423 24555935 - GUCD1 protein_coding 83606 GO:0005515, protein binding, 1499 1502 1718 942 1332 1089 987 936 714 ENSG00000138892 chr22 50015123 50056935 - TTLL8 protein_coding 164714 GO:0015630, GO:0005930, GO:0005929, GO:0005874, GO:0005829, microtubule cytoskeleton, axoneme, cilium, microtubule, cytosol, GO:0070736, GO:0070735, GO:0005524, protein-glycine ligase activity, initiating, protein-glycine ligase activity, ATP binding, GO:0018094, GO:0018094, protein polyglycylation, protein polyglycylation, 0 0 0 0 0 0 0 0 0 ENSG00000138942 chr22 31160183 31207019 + RNF185 protein_coding 91445 GO:0044322, GO:0016021, GO:0005789, GO:0005789, GO:0005783, GO:0005741, endoplasmic reticulum quality control compartment, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial outer membrane, GO:0061630, GO:0061630, GO:0061630, GO:0046872, GO:0044877, GO:0044390, GO:0044390, GO:0043130, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein-containing complex binding, ubiquitin-like protein conjugating enzyme binding, ubiquitin-like protein conjugating enzyme binding, ubiquitin binding, protein binding, GO:1904380, GO:1904294, GO:0071712, GO:0055085, GO:0051865, GO:0036503, GO:0030433, GO:0006914, GO:0006511, endoplasmic reticulum mannose trimming, positive regulation of ERAD pathway, ER-associated misfolded protein catabolic process, transmembrane transport, protein autoubiquitination, ERAD pathway, ubiquitin-dependent ERAD pathway, autophagy, ubiquitin-dependent protein catabolic process, 1005 903 1060 625 689 506 638 450 387 ENSG00000138944 chr22 44243667 44312851 - SHISAL1 protein_coding 85352 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000138964 chr22 44172956 44219533 + PARVG protein_coding Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]. 64098 GO:0015629, GO:0005925, GO:0005886, GO:0005856, GO:0005737, actin cytoskeleton, focal adhesion, plasma membrane, cytoskeleton, cytoplasm, GO:0005515, GO:0003779, GO:0003779, protein binding, actin binding, actin binding, GO:0034446, GO:0031532, GO:0030031, GO:0007163, GO:0007160, substrate adhesion-dependent cell spreading, actin cytoskeleton reorganization, cell projection assembly, establishment or maintenance of cell polarity, cell-matrix adhesion, 2000 2456 2675 1797 3107 2497 1797 2476 1982 ENSG00000139044 chr12 460364 563509 + B4GALNT3 protein_coding B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]. 283358 GO:0043231, GO:0032580, GO:0016021, GO:0005794, intracellular membrane-bounded organelle, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, GO:0033842, GO:0008376, GO:0008376, N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, 16 27 9 23 33 17 18 19 16 ENSG00000139053 chr12 14973022 14981865 + PDE6H protein_coding This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]. 5149 GO:0042622, photoreceptor outer segment membrane, GO:0047555, GO:0030553, GO:0005515, GO:0004857, 3',5'-cyclic-GMP phosphodiesterase activity, cGMP binding, protein binding, enzyme inhibitor activity, GO:0050896, GO:0045745, GO:0045742, GO:0043086, GO:0007601, GO:0000187, response to stimulus, positive regulation of G protein-coupled receptor signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, negative regulation of catalytic activity, visual perception, activation of MAPK activity, 0 6 3 1 8 6 0 5 0 ENSG00000139055 chr12 14914035 14939082 - ERP27 protein_coding This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]. 121506 GO:0005788, GO:0005783, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0005515, GO:0003756, protein binding, protein disulfide isomerase activity, GO:0034976, GO:0006986, GO:0006457, response to endoplasmic reticulum stress, response to unfolded protein, protein folding, 25 59 34 92 94 77 115 82 92 ENSG00000139083 chr12 11649854 11895402 + ETV6 protein_coding This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]. 2120 GO:0005829, GO:0005730, GO:0005634, GO:0000785, cytosol, nucleolus, nucleus, chromatin, GO:0019904, GO:0005515, GO:0003700, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein domain specific binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0097152, GO:0071425, GO:0045944, GO:0030154, GO:0022008, GO:0007296, GO:0006357, GO:0000122, GO:0000122, mesenchymal cell apoptotic process, hematopoietic stem cell proliferation, positive regulation of transcription by RNA polymerase II, cell differentiation, neurogenesis, vitellogenesis, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1281 1203 1813 1108 1614 1628 1121 1069 1294 ENSG00000139112 chr12 10212458 10223130 + GABARAPL1 protein_coding 23710 GO:0044297, GO:0032839, GO:0032590, GO:0030659, GO:0005874, GO:0005829, GO:0005829, GO:0005794, GO:0005783, GO:0005776, GO:0005776, GO:0005739, GO:0000421, GO:0000421, cell body, dendrite cytoplasm, dendrite membrane, cytoplasmic vesicle membrane, microtubule, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum, autophagosome, autophagosome, mitochondrion, autophagosome membrane, autophagosome membrane, GO:0050811, GO:0050811, GO:0048487, GO:0031625, GO:0031625, GO:0030957, GO:0005515, GABA receptor binding, GABA receptor binding, beta-tubulin binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, Tat protein binding, protein binding, GO:0097352, GO:0016236, GO:0016236, GO:0006995, GO:0000422, GO:0000045, autophagosome maturation, macroautophagy, macroautophagy, cellular response to nitrogen starvation, autophagy of mitochondrion, autophagosome assembly, 5092 5759 6435 3406 4761 4772 3561 4094 3970 ENSG00000139116 chr12 39293228 39443390 - KIF21A protein_coding This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]. 55605 GO:0005886, GO:0005874, GO:0005871, GO:0005829, plasma membrane, microtubule, kinesin complex, cytosol, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0007018, microtubule-based movement, 22 10 56 75 19 95 45 11 41 ENSG00000139117 chr12 38646822 38907430 - CPNE8 protein_coding Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]. 144402 GO:0070062, GO:0005886, extracellular exosome, plasma membrane, GO:0046872, GO:0005544, GO:0005515, GO:0003674, metal ion binding, calcium-dependent phospholipid binding, protein binding, molecular_function, GO:0071277, GO:0008150, cellular response to calcium ion, biological_process, 22 17 15 31 14 18 21 14 13 ENSG00000139131 chr12 32727490 32755902 - YARS2 protein_coding This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]. 51067 GO:0016604, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005739, GO:0005739, nuclear body, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, mitochondrion, mitochondrion, GO:0072545, GO:0042803, GO:0005524, GO:0005515, GO:0004831, GO:0004831, GO:0004831, GO:0003723, GO:0000049, GO:0000049, tyrosine binding, protein homodimerization activity, ATP binding, protein binding, tyrosine-tRNA ligase activity, tyrosine-tRNA ligase activity, tyrosine-tRNA ligase activity, RNA binding, tRNA binding, tRNA binding, GO:0070184, GO:0070184, GO:0043039, GO:0043039, GO:0006418, GO:0006412, mitochondrial tyrosyl-tRNA aminoacylation, mitochondrial tyrosyl-tRNA aminoacylation, tRNA aminoacylation, tRNA aminoacylation, tRNA aminoacylation for protein translation, translation, 9 11 21 21 11 23 14 5 5 ENSG00000139132 chr12 32399529 32646050 + FGD4 protein_coding This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]. 121512 GO:0030175, GO:0030027, GO:0005856, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0001726, filopodium, lamellipodium, cytoskeleton, cytosol, Golgi apparatus, cytoplasm, cytoplasm, ruffle, GO:0046872, GO:0031267, GO:0005085, GO:0005085, GO:0003779, metal ion binding, small GTPase binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, actin binding, GO:0051056, GO:0046847, GO:0046847, GO:0043087, GO:0043065, GO:0030036, GO:0008360, GO:0007186, GO:0007010, GO:0007010, regulation of small GTPase mediated signal transduction, filopodium assembly, filopodium assembly, regulation of GTPase activity, positive regulation of apoptotic process, actin cytoskeleton organization, regulation of cell shape, G protein-coupled receptor signaling pathway, cytoskeleton organization, cytoskeleton organization, 762 787 1404 396 636 570 384 411 444 ENSG00000139133 chr12 34022281 34029694 + ALG10 protein_coding This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]. 84920 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0106073, GO:0005515, dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity, protein binding, GO:0006488, GO:0006487, dolichol-linked oligosaccharide biosynthetic process, protein N-linked glycosylation, 15 6 22 27 17 14 20 7 21 ENSG00000139144 chr12 18247614 18648416 + PIK3C2G protein_coding The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 5288 GO:0016020, GO:0005942, GO:0005886, GO:0005829, GO:0005737, membrane, phosphatidylinositol 3-kinase complex, plasma membrane, cytosol, cytoplasm, GO:0052742, GO:0035091, GO:0035005, GO:0016307, GO:0016303, GO:0016303, GO:0005524, phosphatidylinositol kinase activity, phosphatidylinositol binding, 1-phosphatidylinositol-4-phosphate 3-kinase activity, phosphatidylinositol phosphate kinase activity, 1-phosphatidylinositol-3-kinase activity, 1-phosphatidylinositol-3-kinase activity, ATP binding, GO:0048015, GO:0046854, GO:0039694, GO:0036092, GO:0016477, GO:0014065, GO:0006935, GO:0006661, phosphatidylinositol-mediated signaling, phosphatidylinositol phosphorylation, viral RNA genome replication, phosphatidylinositol-3-phosphate biosynthetic process, cell migration, phosphatidylinositol 3-kinase signaling, chemotaxis, phosphatidylinositol biosynthetic process, 0 0 0 2 0 0 0 0 0 ENSG00000139146 chr12 31280584 31327058 - SINHCAF protein_coding 58516 GO:0016580, GO:0016580, Sin3 complex, Sin3 complex, GO:0005515, protein binding, GO:0045596, GO:0030336, GO:0030336, GO:0008284, negative regulation of cell differentiation, negative regulation of cell migration, negative regulation of cell migration, positive regulation of cell population proliferation, 9 25 25 13 9 50 15 14 17 ENSG00000139151 chr12 18683169 18738100 - PLCZ1 protein_coding The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 89869 GO:0061827, GO:0048471, GO:0045120, GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0005634, sperm head, perinuclear region of cytoplasm, pronucleus, cytosol, nucleolus, nucleoplasm, nucleus, nucleus, GO:0032266, GO:0010314, GO:0005546, GO:0005509, GO:0004435, GO:0004435, GO:0004435, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, calcium ion binding, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:0060470, GO:0060470, GO:0048015, GO:0043647, GO:0016042, GO:0007343, GO:0007275, GO:0007204, GO:0006816, positive regulation of cytosolic calcium ion concentration involved in egg activation, positive regulation of cytosolic calcium ion concentration involved in egg activation, phosphatidylinositol-mediated signaling, inositol phosphate metabolic process, lipid catabolic process, egg activation, multicellular organism development, positive regulation of cytosolic calcium ion concentration, calcium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000139154 chr12 19404045 19720801 + AEBP2 protein_coding 121536 GO:0035098, GO:0035098, GO:0005654, GO:0005654, GO:0000785, ESC/E(Z) complex, ESC/E(Z) complex, nucleoplasm, nucleoplasm, chromatin, GO:0046872, GO:0003677, metal ion binding, DNA binding, GO:0045814, GO:0006357, GO:0006325, negative regulation of gene expression, epigenetic, regulation of transcription by RNA polymerase II, chromatin organization, 237 185 291 175 216 320 182 120 187 ENSG00000139155 chr12 20695355 20753386 + SLCO1C1 protein_coding This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. 53919 GO:0016323, GO:0005887, GO:0005886, GO:0005886, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015349, GO:0015347, GO:0015125, thyroid hormone transmembrane transporter activity, sodium-independent organic anion transmembrane transporter activity, bile acid transmembrane transporter activity, GO:2000611, GO:0150104, GO:0070327, GO:0055085, GO:0043252, GO:0043252, GO:0015721, positive regulation of thyroid hormone generation, transport across blood-brain barrier, thyroid hormone transport, transmembrane transport, sodium-independent organic anion transport, sodium-independent organic anion transport, bile acid and bile salt transport, 0 0 0 0 0 0 0 0 0 ENSG00000139160 chr12 31647160 31673114 + ETFBKMT protein_coding 254013 GO:0032991, GO:0005759, GO:0005759, GO:0005737, protein-containing complex, mitochondrial matrix, mitochondrial matrix, cytoplasm, GO:0031072, GO:0016279, GO:0016279, heat shock protein binding, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, GO:1904736, GO:1904733, GO:0018023, GO:0018022, GO:0006479, negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase, negative regulation of electron transfer activity, peptidyl-lysine trimethylation, peptidyl-lysine methylation, protein methylation, 129 119 161 78 79 107 77 87 47 ENSG00000139163 chr12 22625075 22690665 + ETNK1 protein_coding This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 55500 GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005654, membrane, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0005524, GO:0005515, GO:0004305, ATP binding, protein binding, ethanolamine kinase activity, GO:0016310, GO:0006646, GO:0006646, GO:0006646, phosphorylation, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, 692 543 1082 543 458 484 462 328 356 ENSG00000139168 chr12 42312078 42326118 - ZCRB1 protein_coding Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]. 85437 GO:0005689, GO:0005689, GO:0005654, U12-type spliceosomal complex, U12-type spliceosomal complex, nucleoplasm, GO:0008270, GO:0005515, GO:0003723, zinc ion binding, protein binding, RNA binding, GO:0008380, GO:0000398, GO:0000398, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 119 72 98 57 60 96 63 33 76 ENSG00000139173 chr12 43835967 44389762 + TMEM117 protein_coding 84216 GO:0016021, GO:0005886, GO:0005783, integral component of membrane, plasma membrane, endoplasmic reticulum, GO:0003674, molecular_function, GO:0070059, GO:0070059, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, 2 1 1 13 0 6 6 1 3 ENSG00000139174 chr12 42456757 42590355 - PRICKLE1 protein_coding This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]. 144165 GO:0031965, GO:0005829, GO:0005829, GO:0005634, nuclear membrane, cytosol, cytosol, nucleus, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:2000691, GO:0090090, GO:0060976, GO:0060071, GO:0045892, GO:0035904, GO:0032436, GO:0031398, GO:0006606, GO:0006606, GO:0001843, negative regulation of cardiac muscle cell myoblast differentiation, negative regulation of canonical Wnt signaling pathway, coronary vasculature development, Wnt signaling pathway, planar cell polarity pathway, negative regulation of transcription, DNA-templated, aorta development, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein ubiquitination, protein import into nucleus, protein import into nucleus, neural tube closure, 2 1 0 4 1 0 0 1 1 ENSG00000139178 chr12 7089587 7109273 - C1RL protein_coding 51279 GO:0072562, GO:0070062, GO:0005615, GO:0005615, blood microparticle, extracellular exosome, extracellular space, extracellular space, GO:0004252, serine-type endopeptidase activity, GO:0045087, GO:0031638, GO:0006958, innate immune response, zymogen activation, complement activation, classical pathway, 1638 1659 1944 927 1529 1330 1187 1144 1214 ENSG00000139180 chr12 4649095 4694317 + NDUFA9 protein_coding The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]. 4704 GO:0031966, GO:0005759, GO:0005759, GO:0005747, GO:0005739, GO:0005654, GO:0005634, mitochondrial membrane, mitochondrial matrix, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrion, nucleoplasm, nucleus, GO:0044877, GO:0008137, GO:0005515, GO:0003954, GO:0003954, GO:0003954, protein-containing complex binding, NADH dehydrogenase (ubiquinone) activity, protein binding, NADH dehydrogenase activity, NADH dehydrogenase activity, NADH dehydrogenase activity, GO:1901006, GO:0032981, GO:0032981, GO:0009749, GO:0007623, GO:0006814, GO:0006120, GO:0006120, ubiquinone-6 biosynthetic process, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, response to glucose, circadian rhythm, sodium ion transport, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 6 7 7 21 6 17 16 4 6 ENSG00000139182 chr12 7129698 7158945 + CLSTN3 protein_coding 9746 GO:0099061, GO:0098982, GO:0098978, GO:0045211, GO:0032991, GO:0030425, GO:0009986, GO:0005789, GO:0000139, integral component of postsynaptic density membrane, GABA-ergic synapse, glutamatergic synapse, postsynaptic membrane, protein-containing complex, dendrite, cell surface, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:1905606, GO:1902474, GO:0051965, GO:0051932, GO:0050806, GO:0035249, GO:0007416, GO:0007156, GO:0001558, regulation of presynapse assembly, positive regulation of protein localization to synapse, positive regulation of synapse assembly, synaptic transmission, GABAergic, positive regulation of synaptic transmission, synaptic transmission, glutamatergic, synapse assembly, homophilic cell adhesion via plasma membrane adhesion molecules, regulation of cell growth, 374 382 765 445 550 1032 545 371 798 ENSG00000139187 chr12 8950044 9010760 + KLRG1 protein_coding Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]. 10219 GO:0043231, GO:0016021, GO:0005886, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, GO:0038023, GO:0030246, GO:0005515, signaling receptor activity, carbohydrate binding, protein binding, GO:0045087, GO:0007166, GO:0006968, GO:0006954, innate immune response, cell surface receptor signaling pathway, cellular defense response, inflammatory response, 29 13 61 128 31 197 87 46 146 ENSG00000139190 chr12 6462237 6470987 - VAMP1 protein_coding Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]. 6843 GO:0070821, GO:0043005, GO:0035579, GO:0035577, GO:0031201, GO:0030672, GO:0009986, GO:0005887, GO:0005886, GO:0005829, GO:0005829, GO:0005741, tertiary granule membrane, neuron projection, specific granule membrane, azurophil granule membrane, SNARE complex, synaptic vesicle membrane, cell surface, integral component of plasma membrane, plasma membrane, cytosol, cytosol, mitochondrial outer membrane, GO:0019905, GO:0005515, GO:0005484, syntaxin binding, protein binding, SNAP receptor activity, GO:0035493, GO:0006906, SNARE complex assembly, vesicle fusion, 275 415 429 412 588 437 385 367 297 ENSG00000139192 chr12 6451690 6466517 + TAPBPL protein_coding Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]. 55080 GO:0016021, GO:0005886, GO:0005789, GO:0005783, GO:0000139, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0023024, GO:0005515, MHC class I protein complex binding, protein binding, GO:0002590, GO:0002502, negative regulation of antigen processing and presentation of peptide antigen via MHC class I, peptide antigen assembly with MHC class I protein complex, 439 386 415 216 292 253 237 288 205 ENSG00000139193 chr12 6444867 6451718 + CD27 protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]. 939 GO:0009897, GO:0005887, GO:0005886, GO:0005576, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0043027, GO:0005515, GO:0004888, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, protein binding, transmembrane signaling receptor activity, GO:1901224, GO:0097191, GO:0070233, GO:0046330, GO:0045582, GO:0045579, GO:0045471, GO:0043154, GO:0043066, GO:0043066, GO:0033209, GO:0016064, GO:0007166, positive regulation of NIK/NF-kappaB signaling, extrinsic apoptotic signaling pathway, negative regulation of T cell apoptotic process, positive regulation of JNK cascade, positive regulation of T cell differentiation, positive regulation of B cell differentiation, response to ethanol, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, immunoglobulin mediated immune response, cell surface receptor signaling pathway, 37 31 44 90 56 133 101 73 120 ENSG00000139194 chr12 7123684 7128942 - RBP5 protein_coding The protein encoded by this gene is a cellular retinol-binding protein expressed highly in kidney and liver. Down-regulation of the encoded protein in hepatocellular carcinoma was associated with large tumor size and poor patient survival rates. [provided by RefSeq, Jul 2016]. 83758 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0019841, GO:0016918, GO:0005515, GO:0005501, retinol binding, retinal binding, protein binding, retinoid binding, 49 59 101 35 72 94 31 29 52 ENSG00000139197 chr12 7188685 7218574 + PEX5 protein_coding The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]. 5830 GO:0032991, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005778, GO:0005778, GO:0005778, GO:0005777, GO:0005737, protein-containing complex, membrane, cytosol, cytosol, cytosol, Golgi apparatus, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, cytoplasm, GO:0140311, GO:0047485, GO:0033328, GO:0031267, GO:0019899, GO:0005515, GO:0005052, GO:0005052, GO:0005052, GO:0000268, protein sequestering activity, protein N-terminus binding, peroxisome membrane targeting sequence binding, small GTPase binding, enzyme binding, protein binding, peroxisome matrix targeting signal-1 binding, peroxisome matrix targeting signal-1 binding, peroxisome matrix targeting signal-1 binding, peroxisome targeting sequence binding, GO:0045046, GO:0031333, GO:0016567, GO:0016560, GO:0016560, GO:0016558, GO:0016558, GO:0016558, GO:0006625, protein import into peroxisome membrane, negative regulation of protein-containing complex assembly, protein ubiquitination, protein import into peroxisome matrix, docking, protein import into peroxisome matrix, docking, protein import into peroxisome matrix, protein import into peroxisome matrix, protein import into peroxisome matrix, protein targeting to peroxisome, 193 111 210 103 67 129 114 75 76 ENSG00000139200 chr12 6693792 6700800 - PIANP protein_coding This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011]. 196500 GO:0016323, GO:0016021, GO:0016020, GO:0005886, basolateral plasma membrane, integral component of membrane, membrane, plasma membrane, GO:0005515, protein binding, GO:0050776, regulation of immune response, 1 2 1 13 6 0 5 5 4 ENSG00000139209 chr12 46764761 46832408 - SLC38A4 protein_coding SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]. 55089 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0015293, GO:0015171, GO:0015171, GO:0005515, symporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:0006865, GO:0006814, GO:0003333, amino acid transport, sodium ion transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000139211 chr12 47075707 47079951 - AMIGO2 protein_coding 347902 GO:0016021, GO:0005886, GO:0005634, integral component of membrane, plasma membrane, nucleus, GO:0005515, protein binding, GO:0051965, GO:0043069, GO:0043066, GO:0007420, GO:0007157, GO:0007156, positive regulation of synapse assembly, negative regulation of programmed cell death, negative regulation of apoptotic process, brain development, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 9 3 17 40 24 27 16 8 21 ENSG00000139218 chr12 45919131 45992120 - SCAF11 protein_coding 9169 GO:0016604, GO:0005730, GO:0005654, nuclear body, nucleolus, nucleoplasm, GO:0046872, GO:0005515, GO:0003723, metal ion binding, protein binding, RNA binding, GO:0008380, GO:0006397, GO:0000375, GO:0000245, GO:0000245, RNA splicing, mRNA processing, RNA splicing, via transesterification reactions, spliceosomal complex assembly, spliceosomal complex assembly, 3254 2917 3506 1747 2391 2295 2034 1839 1871 ENSG00000139219 chr12 47972965 48004554 - COL2A1 protein_coding This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]. 1280 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005615, GO:0005604, GO:0005585, GO:0005585, GO:0005581, GO:0005576, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, basement membrane, collagen type II trimer, collagen type II trimer, collagen trimer, extracellular region, extracellular region, GO:0048407, GO:0046872, GO:0043394, GO:0042802, GO:0042289, GO:0030020, GO:0030020, GO:0030020, GO:0005201, platelet-derived growth factor binding, metal ion binding, proteoglycan binding, identical protein binding, MHC class II protein binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, GO:2001240, GO:0097065, GO:0071773, GO:0071599, GO:0060351, GO:0060272, GO:0060174, GO:0060021, GO:0051216, GO:0050776, GO:0042472, GO:0030903, GO:0030199, GO:0030199, GO:0030198, GO:0030198, GO:0010468, GO:0007605, GO:0007601, GO:0007417, GO:0006029, GO:0003007, GO:0002062, GO:0001958, GO:0001894, GO:0001502, GO:0001501, GO:0001501, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, anterior head development, cellular response to BMP stimulus, otic vesicle development, cartilage development involved in endochondral bone morphogenesis, embryonic skeletal joint morphogenesis, limb bud formation, roof of mouth development, cartilage development, regulation of immune response, inner ear morphogenesis, notochord development, collagen fibril organization, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, regulation of gene expression, sensory perception of sound, visual perception, central nervous system development, proteoglycan metabolic process, heart morphogenesis, chondrocyte differentiation, endochondral ossification, tissue homeostasis, cartilage condensation, skeletal system development, skeletal system development, 0 0 0 0 2 0 0 0 0 ENSG00000139220 chr12 81257975 81759553 - PPFIA2 protein_coding The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 8499 GO:0098978, GO:0070062, GO:0048786, GO:0048786, GO:0043197, GO:0030424, GO:0009986, GO:0005829, GO:0005737, glutamatergic synapse, extracellular exosome, presynaptic active zone, presynaptic active zone, dendritic spine, axon, cell surface, cytosol, cytoplasm, GO:0099181, GO:0005515, structural constituent of presynapse, protein binding, GO:2000300, GO:0099519, GO:0099172, GO:0061001, GO:0060998, GO:0050808, GO:0014047, GO:0007269, GO:0007160, regulation of synaptic vesicle exocytosis, dense core granule cytoskeletal transport, presynapse organization, regulation of dendritic spine morphogenesis, regulation of dendritic spine development, synapse organization, glutamate secretion, neurotransmitter secretion, cell-matrix adhesion, 1 0 0 0 0 0 0 0 0 ENSG00000139223 chr12 48472665 48473624 + ANP32D protein_coding Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]. 23519 0 0 0 0 1 0 0 0 0 ENSG00000139233 chr12 66116555 66130768 - LLPH protein_coding 84298 GO:0005730, GO:0005730, GO:0005694, nucleolus, nucleolus, chromosome, GO:0005515, GO:0003723, GO:0001099, GO:0001099, protein binding, RNA binding, basal RNA polymerase II transcription machinery binding, basal RNA polymerase II transcription machinery binding, GO:0097484, GO:0097484, GO:0060999, dendrite extension, dendrite extension, positive regulation of dendritic spine development, 172 135 202 83 112 122 94 71 94 ENSG00000139239 chr12 62965325 62965969 + RPL14P1 processed_pseudogene 77 27 50 56 96 126 27 35 94 ENSG00000139263 chr12 58872149 58920522 - LRIG3 protein_coding 121227 GO:0031012, GO:0030659, GO:0016021, GO:0005886, GO:0005615, GO:0005615, extracellular matrix, cytoplasmic vesicle membrane, integral component of membrane, plasma membrane, extracellular space, extracellular space, GO:0005515, protein binding, GO:0032474, otolith morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000139266 chr12 57755098 57760407 + MARCH9 protein_coding MARCH9 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010]. 92979 GO:0016021, GO:0005802, GO:0005795, GO:0005765, GO:0000139, integral component of membrane, trans-Golgi network, Golgi stack, lysosomal membrane, Golgi membrane, GO:0016740, GO:0008270, transferase activity, zinc ion binding, GO:0016567, protein ubiquitination, 25 13 38 73 27 36 57 20 68 ENSG00000139269 chr12 57452323 57459280 + INHBE protein_coding This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate an inhibin beta subunit. Inhibins have been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. This gene may be upregulated under conditions of endoplasmic reticulum stress, and this protein may inhibit cellular proliferation and growth in pancreas and liver. [provided by RefSeq, Sep 2016]. 83729 GO:0062023, GO:0005615, collagen-containing extracellular matrix, extracellular space, GO:0008083, GO:0005179, GO:0005125, growth factor activity, hormone activity, cytokine activity, GO:0060395, GO:0010862, SMAD protein signal transduction, positive regulation of pathway-restricted SMAD protein phosphorylation, 1 4 2 17 19 28 27 16 10 ENSG00000139278 chr12 75480680 75503853 + GLIPR1 protein_coding This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 11010 GO:0035577, GO:0016021, GO:0016020, GO:0005886, GO:0005615, azurophil granule membrane, integral component of membrane, membrane, plasma membrane, extracellular space, GO:0005515, protein binding, GO:0043312, GO:0019216, neutrophil degranulation, regulation of lipid metabolic process, 3585 3937 5242 1199 2633 2024 1435 2279 1982 ENSG00000139287 chr12 71938846 72186618 + TPH2 protein_coding This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]. 121278 GO:0043005, GO:0005829, neuron projection, cytosol, GO:0005506, GO:0004510, iron ion binding, tryptophan 5-monooxygenase activity, GO:0071285, GO:0055114, GO:0051592, GO:0051384, GO:0046219, GO:0043627, GO:0042427, GO:0031667, GO:0014823, GO:0009072, GO:0007623, cellular response to lithium ion, oxidation-reduction process, response to calcium ion, response to glucocorticoid, indolalkylamine biosynthetic process, response to estrogen, serotonin biosynthetic process, response to nutrient levels, response to activity, aromatic amino acid family metabolic process, circadian rhythm, 0 0 0 0 0 0 0 0 0 ENSG00000139289 chr12 76025447 76033932 - PHLDA1 protein_coding This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]. 22822 GO:0031410, GO:0005829, GO:0005730, GO:0005654, GO:0005634, cytoplasmic vesicle, cytosol, nucleolus, nucleoplasm, nucleus, GO:1901981, GO:0005515, phosphatidylinositol phosphate binding, protein binding, GO:0045210, GO:0043065, GO:0006915, GO:0000086, FasL biosynthetic process, positive regulation of apoptotic process, apoptotic process, G2/M transition of mitotic cell cycle, 35 28 141 250 48 264 306 85 242 ENSG00000139291 chr12 71686087 71705046 + TMEM19 protein_coding 55266 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0005515, protein binding, 13 11 10 20 25 24 17 14 23 ENSG00000139292 chr12 71439770 71586310 + LGR5 protein_coding The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. 8549 GO:0032588, GO:0005887, GO:0005887, GO:0005886, trans-Golgi network membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0016500, GO:0008528, GO:0005515, GO:0004930, GO:0004888, protein-hormone receptor activity, G protein-coupled peptide receptor activity, protein binding, G protein-coupled receptor activity, transmembrane signaling receptor activity, GO:0090263, GO:0009755, GO:0007190, GO:0007189, GO:0007186, positive regulation of canonical Wnt signaling pathway, hormone-mediated signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 1 0 0 3 0 0 0 ENSG00000139304 chr12 80402178 80680271 + PTPRQ protein_coding This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]. 374462 GO:0043235, GO:0016021, receptor complex, integral component of membrane, GO:0004725, protein tyrosine phosphatase activity, GO:1990264, GO:0045598, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, regulation of fat cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000139318 chr12 89347232 89353271 - DUSP6 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]. 1848 GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, GO:0106307, GO:0106306, GO:0051019, GO:0017017, GO:0017017, GO:0008330, GO:0005515, GO:0004725, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, MAP kinase tyrosine/serine/threonine phosphatase activity, MAP kinase tyrosine/serine/threonine phosphatase activity, protein tyrosine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0070848, GO:0070373, GO:0070373, GO:0060420, GO:0051409, GO:0043065, GO:0043065, GO:0042493, GO:0035970, GO:0035335, GO:0035335, GO:0030154, GO:0014070, GO:0006470, GO:0000188, GO:0000188, GO:0000187, GO:0000165, response to growth factor, negative regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, regulation of heart growth, response to nitrosative stress, positive regulation of apoptotic process, positive regulation of apoptotic process, response to drug, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, cell differentiation, response to organic cyclic compound, protein dephosphorylation, inactivation of MAPK activity, inactivation of MAPK activity, activation of MAPK activity, MAPK cascade, 15818 8730 24646 408 898 556 516 792 631 ENSG00000139323 chr12 89419718 89526024 - POC1B protein_coding POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 282809 GO:0036064, GO:0005814, GO:0005813, GO:0005737, GO:0000922, ciliary basal body, centriole, centrosome, cytoplasm, spindle pole, GO:0005515, protein binding, GO:0060271, GO:0008283, GO:0007099, GO:0001895, cilium assembly, cell population proliferation, centriole replication, retina homeostasis, 337 268 272 199 200 161 199 175 211 ENSG00000139324 chr12 88142296 88199887 + TMTC3 protein_coding This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]. 160418 GO:0016021, GO:0005783, integral component of membrane, endoplasmic reticulum, GO:0005515, GO:0004169, GO:0000030, protein binding, dolichyl-phosphate-mannose-protein mannosyltransferase activity, mannosyltransferase activity, GO:1901800, GO:0035269, GO:0034976, positive regulation of proteasomal protein catabolic process, protein O-linked mannosylation, response to endoplasmic reticulum stress, 34 37 53 40 33 39 40 41 46 ENSG00000139329 chr12 91102629 91111831 - LUM protein_coding This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]. 4060 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0043202, GO:0031012, GO:0005796, GO:0005615, GO:0005615, GO:0005583, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, extracellular matrix, Golgi lumen, extracellular space, extracellular space, fibrillar collagen trimer, extracellular region, extracellular region, extracellular region, GO:0030021, GO:0030021, GO:0005518, GO:0005518, GO:0005515, GO:0005201, extracellular matrix structural constituent conferring compression resistance, extracellular matrix structural constituent conferring compression resistance, collagen binding, collagen binding, protein binding, extracellular matrix structural constituent, GO:0070848, GO:0051216, GO:0045944, GO:0042340, GO:0032914, GO:0030199, GO:0030198, GO:0018146, GO:0014070, GO:0007601, response to growth factor, cartilage development, positive regulation of transcription by RNA polymerase II, keratan sulfate catabolic process, positive regulation of transforming growth factor beta1 production, collagen fibril organization, extracellular matrix organization, keratan sulfate biosynthetic process, response to organic cyclic compound, visual perception, 0 2 0 0 1 0 0 0 1 ENSG00000139330 chr12 91050491 91057983 - KERA protein_coding The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]. 11081 GO:0043202, GO:0031012, GO:0005796, GO:0005615, GO:0005576, lysosomal lumen, extracellular matrix, Golgi lumen, extracellular space, extracellular region, GO:0003674, molecular_function, GO:0061303, GO:0050896, GO:0042340, GO:0018146, GO:0007601, cornea development in camera-type eye, response to stimulus, keratan sulfate catabolic process, keratan sulfate biosynthetic process, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000139343 chr12 95858928 95903828 + SNRPF protein_coding 6636 GO:0071013, GO:0071013, GO:0071007, GO:0071005, GO:0046540, GO:0034719, GO:0034715, GO:0034709, GO:0030532, GO:0005829, GO:0005829, GO:0005732, GO:0005689, GO:0005687, GO:0005685, GO:0005685, GO:0005683, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, SMN-Sm protein complex, pICln-Sm protein complex, methylosome, small nuclear ribonucleoprotein complex, cytosol, cytosol, small nucleolar ribonucleoprotein complex, U12-type spliceosomal complex, U4 snRNP, U1 snRNP, U1 snRNP, U7 snRNP, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0051170, GO:0008380, GO:0008334, GO:0006369, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000387, GO:0000387, import into nucleus, RNA splicing, histone mRNA metabolic process, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 19 12 18 34 14 36 40 20 25 ENSG00000139344 chr12 95943293 95968716 + AMDHD1 protein_coding 144193 GO:0005829, cytosol, GO:0050480, GO:0046872, GO:0016812, GO:0003674, imidazolonepropionase activity, metal ion binding, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides, molecular_function, GO:0019557, GO:0019556, GO:0006548, GO:0006548, histidine catabolic process to glutamate and formate, histidine catabolic process to glutamate and formamide, histidine catabolic process, histidine catabolic process, 0 0 4 3 3 0 4 1 7 ENSG00000139350 chr12 96907223 96953777 + NEDD1 protein_coding 121441 GO:0045177, GO:0036064, GO:0005886, GO:0005829, GO:0005814, GO:0005813, GO:0005654, GO:0000922, GO:0000242, apical part of cell, ciliary basal body, plasma membrane, cytosol, centriole, centrosome, nucleoplasm, spindle pole, pericentriolar material, GO:0005515, protein binding, GO:0097711, GO:0071539, GO:0051301, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, protein localization to centrosome, cell division, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 121 61 187 110 65 113 117 59 97 ENSG00000139351 chr12 101728648 101739472 - SYCP3 protein_coding This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]. 50511 GO:0005634, GO:0000800, GO:0000795, GO:0000795, GO:0000775, nucleus, lateral element, synaptonemal complex, synaptonemal complex, chromosome, centromeric region, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0051321, GO:0051301, GO:0035093, GO:0007286, GO:0007141, meiotic cell cycle, cell division, spermatogenesis, exchange of chromosomal proteins, spermatid development, male meiosis I, 10 5 5 9 10 12 14 6 7 ENSG00000139352 chr12 102957686 102960516 + ASCL1 protein_coding This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]. 429 GO:0090575, GO:0043025, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, neuronal cell body, nucleus, chromatin, GO:1990837, GO:0070888, GO:0046983, GO:0043425, GO:0042802, GO:0005515, GO:0003700, GO:0003682, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, protein dimerization activity, bHLH transcription factor binding, identical protein binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000179, GO:0071259, GO:0070849, GO:0061549, GO:0061104, GO:0061103, GO:0061102, GO:0061100, GO:0060579, GO:0060487, GO:0060166, GO:0060165, GO:0060163, GO:0051593, GO:0050883, GO:0050767, GO:0048666, GO:0048665, GO:0048663, GO:0048485, GO:0048469, GO:0045944, GO:0045944, GO:0045892, GO:0045787, GO:0045747, GO:0045666, GO:0045665, GO:0043525, GO:0043066, GO:0032526, GO:0030856, GO:0030182, GO:0030182, GO:0022008, GO:0021987, GO:0021954, GO:0021902, GO:0021892, GO:0021750, GO:0021530, GO:0021527, GO:0014003, GO:0010468, GO:0010226, GO:0007507, GO:0007423, GO:0007405, GO:0007400, GO:0007346, GO:0007219, GO:0006357, GO:0003359, GO:0003358, GO:0001764, GO:0000122, positive regulation of neural precursor cell proliferation, cellular response to magnetism, response to epidermal growth factor, sympathetic ganglion development, adrenal chromaffin cell differentiation, carotid body glomus cell differentiation, stomach neuroendocrine cell differentiation, lung neuroendocrine cell differentiation, ventral spinal cord interneuron fate commitment, lung epithelial cell differentiation, olfactory pit development, regulation of timing of subpallium neuron differentiation, subpallium neuron fate commitment, response to folic acid, musculoskeletal movement, spinal reflex action, regulation of neurogenesis, neuron development, neuron fate specification, neuron fate commitment, sympathetic nervous system development, cell maturation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, positive regulation of Notch signaling pathway, positive regulation of neuron differentiation, negative regulation of neuron differentiation, positive regulation of neuron apoptotic process, negative regulation of apoptotic process, response to retinoic acid, regulation of epithelial cell differentiation, neuron differentiation, neuron differentiation, neurogenesis, cerebral cortex development, central nervous system neuron development, commitment of neuronal cell to specific neuron type in forebrain, cerebral cortex GABAergic interneuron differentiation, vestibular nucleus development, spinal cord oligodendrocyte cell fate specification, spinal cord association neuron differentiation, oligodendrocyte development, regulation of gene expression, response to lithium ion, heart development, sensory organ development, neuroblast proliferation, neuroblast fate determination, regulation of mitotic cell cycle, Notch signaling pathway, regulation of transcription by RNA polymerase II, noradrenergic neuron fate commitment, noradrenergic neuron development, neuron migration, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000139354 chr12 100573683 100628286 + GAS2L3 protein_coding 283431 GO:0015630, GO:0015629, GO:0005884, GO:0005874, GO:0005737, microtubule cytoskeleton, actin cytoskeleton, actin filament, microtubule, cytoplasm, GO:0051015, GO:0008093, GO:0008017, GO:0008017, GO:0005515, GO:0003779, actin filament binding, cytoskeletal anchor activity, microtubule binding, microtubule binding, protein binding, actin binding, GO:0051764, GO:0030036, GO:0000226, GO:0000226, actin crosslink formation, actin cytoskeleton organization, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 2 1 7 7 12 24 10 7 15 ENSG00000139364 chr12 125186836 125662377 + TMEM132B protein_coding 114795 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 3 0 0 0 0 0 ENSG00000139370 chr12 128793191 128823983 - SLC15A4 protein_coding 121260 GO:1905103, GO:0036020, GO:0035579, GO:0031901, GO:0031303, GO:0005886, GO:0005765, integral component of lysosomal membrane, endolysosome membrane, specific granule membrane, early endosome membrane, integral component of endosome membrane, plasma membrane, lysosomal membrane, GO:0071916, GO:0015647, GO:0015333, GO:0005515, GO:0005290, GO:0005290, dipeptide transmembrane transporter activity, peptidoglycan transmembrane transporter activity, peptide:proton symporter activity, protein binding, L-histidine transmembrane transporter activity, L-histidine transmembrane transporter activity, GO:1902600, GO:0140206, GO:0089708, GO:0070434, GO:0070430, GO:0070424, GO:0048302, GO:0045089, GO:0045087, GO:0043312, GO:0034165, GO:0034161, GO:0034157, GO:0033023, GO:0015835, GO:0015817, GO:0015031, GO:0006811, proton transmembrane transport, dipeptide import across plasma membrane, L-histidine transmembrane export from vacuole, positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway, regulation of nucleotide-binding oligomerization domain containing signaling pathway, regulation of isotype switching to IgG isotypes, positive regulation of innate immune response, innate immune response, neutrophil degranulation, positive regulation of toll-like receptor 9 signaling pathway, positive regulation of toll-like receptor 8 signaling pathway, positive regulation of toll-like receptor 7 signaling pathway, mast cell homeostasis, peptidoglycan transport, histidine transport, protein transport, ion transport, 5103 5130 5061 807 1631 808 1070 1358 875 ENSG00000139372 chr12 103965804 103988874 + TDG protein_coding The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]. 6996 GO:0016605, GO:0005886, GO:0005654, GO:0005654, GO:0005634, GO:0005634, PML body, plasma membrane, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0043739, GO:0043621, GO:0042803, GO:0032183, GO:0031404, GO:0031402, GO:0030983, GO:0019104, GO:0019104, GO:0008263, GO:0008263, GO:0008263, GO:0005524, GO:0005515, GO:0005080, GO:0004844, GO:0004844, GO:0003712, GO:0003690, GO:0003684, GO:0003677, GO:0000287, G/U mismatch-specific uracil-DNA glycosylase activity, protein self-association, protein homodimerization activity, SUMO binding, chloride ion binding, sodium ion binding, mismatched DNA binding, DNA N-glycosylase activity, DNA N-glycosylase activity, pyrimidine-specific mismatch base pair DNA N-glycosylase activity, pyrimidine-specific mismatch base pair DNA N-glycosylase activity, pyrimidine-specific mismatch base pair DNA N-glycosylase activity, ATP binding, protein binding, protein kinase C binding, uracil DNA N-glycosylase activity, uracil DNA N-glycosylase activity, transcription coregulator activity, double-stranded DNA binding, damaged DNA binding, DNA binding, magnesium ion binding, GO:1902544, GO:0080111, GO:0045995, GO:0045008, GO:0040029, GO:0035562, GO:0035511, GO:0032091, GO:0006325, GO:0006298, GO:0006285, GO:0006285, GO:0006285, GO:0006284, GO:0000122, regulation of DNA N-glycosylase activity, DNA demethylation, regulation of embryonic development, depyrimidination, regulation of gene expression, epigenetic, negative regulation of chromatin binding, oxidative DNA demethylation, negative regulation of protein binding, chromatin organization, mismatch repair, base-excision repair, AP site formation, base-excision repair, AP site formation, base-excision repair, AP site formation, base-excision repair, negative regulation of transcription by RNA polymerase II, 140 171 149 149 144 160 87 104 84 ENSG00000139405 chr12 113185526 113192368 + RITA1 protein_coding 84934 GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0015631, GO:0015631, GO:0005515, tubulin binding, tubulin binding, protein binding, GO:0051168, GO:0051168, GO:0045746, GO:0045746, GO:0022008, GO:0007219, GO:0000122, nuclear export, nuclear export, negative regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, neurogenesis, Notch signaling pathway, negative regulation of transcription by RNA polymerase II, 6 8 4 19 1 13 5 3 19 ENSG00000139410 chr12 113422237 113438276 + SDSL protein_coding 113675 GO:0005829, cytosol, GO:0042802, GO:0030170, GO:0004794, GO:0003941, GO:0003674, identical protein binding, pyridoxal phosphate binding, L-threonine ammonia-lyase activity, L-serine ammonia-lyase activity, molecular_function, GO:0019518, GO:0009097, GO:0008150, GO:0006567, L-threonine catabolic process to glycine, isoleucine biosynthetic process, biological_process, threonine catabolic process, 1 0 0 0 1 0 0 0 0 ENSG00000139428 chr12 109553737 109573874 - MMAB protein_coding This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]. 326625 GO:0005759, mitochondrial matrix, GO:0031419, GO:0008817, GO:0008817, GO:0005524, GO:0005515, cobalamin binding, cob(I)yrinic acid a,c-diamide adenosyltransferase activity, cob(I)yrinic acid a,c-diamide adenosyltransferase activity, ATP binding, protein binding, GO:0009235, cobalamin metabolic process, 6 2 10 20 13 21 21 5 1 ENSG00000139433 chr12 109850943 109880488 - GLTP protein_coding The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008]. 51228 GO:0016020, GO:0005829, GO:0005829, GO:0005829, membrane, cytosol, cytosol, cytosol, GO:1902388, GO:1902387, GO:0120013, GO:0051861, GO:0042802, GO:0017089, GO:0008289, GO:0005515, ceramide 1-phosphate transfer activity, ceramide 1-phosphate binding, lipid transfer activity, glycolipid binding, identical protein binding, glycolipid transfer activity, lipid binding, protein binding, GO:1902389, GO:0120009, GO:0120009, GO:0046836, GO:0035627, GO:0006687, ceramide 1-phosphate transport, intermembrane lipid transfer, intermembrane lipid transfer, glycolipid transport, ceramide transport, glycosphingolipid metabolic process, 589 511 709 256 342 332 250 275 241 ENSG00000139436 chr12 109929792 109996389 - GIT2 protein_coding This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]. 9815 GO:0005925, GO:0005654, focal adhesion, nucleoplasm, GO:0046872, GO:0005515, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GO:0043547, GO:0008277, positive regulation of GTPase activity, regulation of G protein-coupled receptor signaling pathway, 2083 1917 2158 1949 2473 2347 1940 1824 1880 ENSG00000139437 chr12 109900264 109983841 + TCHP protein_coding 84260 GO:0045179, GO:0045095, GO:0045095, GO:0030057, GO:0005886, GO:0005829, GO:0005813, GO:0005739, GO:0005737, apical cortex, keratin filament, keratin filament, desmosome, plasma membrane, cytosol, centrosome, mitochondrion, cytoplasm, GO:0005515, protein binding, GO:1902018, GO:0030308, GO:0030030, GO:0006915, GO:0006915, negative regulation of cilium assembly, negative regulation of cell growth, cell projection organization, apoptotic process, apoptotic process, 1021 995 1078 1103 1225 1207 1000 908 939 ENSG00000139438 chr12 109714228 109770507 + FAM222A protein_coding 84915 6 9 18 10 2 5 2 0 0 ENSG00000139445 chr12 109277979 109309220 - FOXN4 protein_coding Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008]. 121643 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0005515, GO:0003700, GO:0003682, GO:0000987, GO:0000987, GO:0000987, GO:0000981, GO:0000981, protein binding, DNA-binding transcription factor activity, chromatin binding, cis-regulatory region sequence-specific DNA binding, cis-regulatory region sequence-specific DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0060579, GO:0045944, GO:0036302, GO:0035881, GO:0021514, GO:0010842, GO:0008016, GO:0006355, GO:0006355, GO:0001947, ventral spinal cord interneuron fate commitment, positive regulation of transcription by RNA polymerase II, atrioventricular canal development, amacrine cell differentiation, ventral spinal cord interneuron differentiation, retina layer formation, regulation of heart contraction, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, heart looping, 0 0 0 0 0 4 0 0 0 ENSG00000139496 chr13 25301524 25349800 + NUP58 protein_coding This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 9818 GO:0043657, GO:0031965, GO:0005643, GO:0005635, host cell, nuclear membrane, nuclear pore, nuclear envelope, GO:0044877, GO:0042802, GO:0017056, GO:0008139, GO:0005515, protein-containing complex binding, identical protein binding, structural constituent of nuclear pore, nuclear localization sequence binding, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0042306, GO:0019083, GO:0016925, GO:0016032, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, regulation of protein import into nucleus, viral transcription, protein sumoylation, viral process, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 1692 1421 2291 2023 1878 2561 2182 1249 1855 ENSG00000139505 chr13 25246201 25288009 - MTMR6 protein_coding 9107 GO:0048471, GO:0032587, GO:0016020, GO:0005829, GO:0005793, GO:0005783, GO:0005737, GO:0005737, GO:0005635, GO:0005635, perinuclear region of cytoplasm, ruffle membrane, membrane, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, cytoplasm, cytoplasm, nuclear envelope, nuclear envelope, GO:0106018, GO:0106018, GO:0052629, GO:0005515, GO:0004725, GO:0004722, GO:0004438, GO:0004438, phosphatidylinositol-3,5-bisphosphate phosphatase activity, phosphatidylinositol-3,5-bisphosphate phosphatase activity, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, protein binding, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, phosphatidylinositol-3-phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:0046856, GO:0046856, GO:0035335, GO:0006897, GO:0006661, GO:0006470, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, peptidyl-tyrosine dephosphorylation, endocytosis, phosphatidylinositol biosynthetic process, protein dephosphorylation, 1920 1501 2160 790 917 1054 925 754 815 ENSG00000139508 chr13 28700064 28718970 - SLC46A3 protein_coding The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytoplasm. This protein has been shown to be an effective transporter of the cytotoxic drug maytansine, which is used in antibody-based targeting of cancer cells. [provided by RefSeq, Dec 2016]. 283537 GO:1905103, GO:0070062, integral component of lysosomal membrane, extracellular exosome, GO:0022857, GO:0003674, transmembrane transporter activity, molecular_function, GO:0034486, GO:0008150, vacuolar transmembrane transport, biological_process, 129 110 192 90 152 128 75 112 123 ENSG00000139514 chr13 29509410 29595688 - SLC7A1 protein_coding 6541 GO:0032991, GO:0016324, GO:0016324, GO:0016323, GO:0016020, GO:0009925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, protein-containing complex, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0061459, GO:0015189, GO:0015181, GO:0015181, GO:0015174, GO:0015174, GO:0015171, GO:0015171, GO:0015171, GO:0005515, GO:0005290, GO:0000064, L-arginine transmembrane transporter activity, L-lysine transmembrane transporter activity, arginine transmembrane transporter activity, arginine transmembrane transporter activity, basic amino acid transmembrane transporter activity, basic amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, L-histidine transmembrane transporter activity, L-ornithine transmembrane transporter activity, GO:1990822, GO:1903826, GO:1903810, GO:1903401, GO:1903352, GO:0150104, GO:0097638, GO:0097638, GO:0089718, GO:0042102, GO:0015822, GO:0015819, GO:0015807, GO:0006865, GO:0006865, basic amino acid transmembrane transport, arginine transmembrane transport, L-histidine import across plasma membrane, L-lysine transmembrane transport, L-ornithine transmembrane transport, transport across blood-brain barrier, L-arginine import across plasma membrane, L-arginine import across plasma membrane, amino acid import across plasma membrane, positive regulation of T cell proliferation, ornithine transport, lysine transport, L-amino acid transport, amino acid transport, amino acid transport, 48 50 131 83 41 85 83 18 42 ENSG00000139515 chr13 27920020 27926231 + PDX1 protein_coding The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]. 3651 GO:0016607, GO:0005829, GO:0005654, GO:0005634, GO:0000785, nuclear speck, cytosol, nucleoplasm, nucleus, chromatin, GO:1990841, GO:1990837, GO:0044877, GO:0008134, GO:0003700, GO:0000981, GO:0000981, GO:0000978, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, protein-containing complex binding, transcription factor binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000675, GO:1902236, GO:0070542, GO:0060290, GO:0051594, GO:0051384, GO:0048863, GO:0048565, GO:0045944, GO:0043388, GO:0043279, GO:0043201, GO:0042593, GO:0042493, GO:0035774, GO:0035094, GO:0034097, GO:0033273, GO:0031100, GO:0031017, GO:0030073, GO:0016331, GO:0010942, GO:0010260, GO:0010157, GO:0010040, GO:0009887, GO:0009611, GO:0008285, GO:0008284, GO:0007417, GO:0007263, GO:0007224, GO:0006366, GO:0006357, GO:0006091, GO:0006006, GO:0003309, GO:0003309, GO:0003309, GO:0001889, GO:0000122, negative regulation of type B pancreatic cell apoptotic process, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, response to fatty acid, transdifferentiation, detection of glucose, response to glucocorticoid, stem cell differentiation, digestive tract development, positive regulation of transcription by RNA polymerase II, positive regulation of DNA binding, response to alkaloid, response to leucine, glucose homeostasis, response to drug, positive regulation of insulin secretion involved in cellular response to glucose stimulus, response to nicotine, response to cytokine, response to vitamin, animal organ regeneration, exocrine pancreas development, insulin secretion, morphogenesis of embryonic epithelium, positive regulation of cell death, animal organ senescence, response to chlorate, response to iron(II) ion, animal organ morphogenesis, response to wounding, negative regulation of cell population proliferation, positive regulation of cell population proliferation, central nervous system development, nitric oxide mediated signal transduction, smoothened signaling pathway, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, generation of precursor metabolites and energy, glucose metabolic process, type B pancreatic cell differentiation, type B pancreatic cell differentiation, type B pancreatic cell differentiation, liver development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000139517 chr13 27545911 27620404 - LNX2 protein_coding 222484 GO:0046872, GO:0042802, GO:0030165, GO:0005515, metal ion binding, identical protein binding, PDZ domain binding, protein binding, 74 54 93 44 31 66 68 24 38 ENSG00000139531 chr12 55997180 56006641 + SUOX protein_coding Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]. 6821 GO:0005759, GO:0005758, GO:0005739, mitochondrial matrix, mitochondrial intermembrane space, mitochondrion, GO:0043546, GO:0030151, GO:0020037, GO:0008482, GO:0005515, molybdopterin cofactor binding, molybdenum ion binding, heme binding, sulfite oxidase activity, protein binding, GO:0070221, GO:0006790, sulfide oxidation, using sulfide:quinone oxidoreductase, sulfur compound metabolic process, 55 67 43 39 87 38 33 52 41 ENSG00000139537 chr12 48904110 48931840 + CCDC65 protein_coding This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]. 85478 GO:0036064, GO:0031514, GO:0005930, GO:0005858, ciliary basal body, motile cilium, axoneme, axonemal dynein complex, GO:0003674, molecular_function, GO:0070286, GO:0060285, GO:0060271, GO:0003352, GO:0003352, axonemal dynein complex assembly, cilium-dependent cell motility, cilium assembly, regulation of cilium movement, regulation of cilium movement, 29 33 36 38 70 85 77 36 56 ENSG00000139540 chr12 56230049 56237846 + SLC39A5 protein_coding The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. 283375 GO:0070062, GO:0016323, GO:0005887, extracellular exosome, basolateral plasma membrane, integral component of plasma membrane, GO:0005385, GO:0003674, zinc ion transmembrane transporter activity, molecular_function, GO:0071578, GO:0070315, GO:0061351, GO:0048026, GO:0034224, GO:0030509, GO:0030509, GO:0006882, GO:0001654, zinc ion import across plasma membrane, G1 to G0 transition involved in cell differentiation, neural precursor cell proliferation, positive regulation of mRNA splicing, via spliceosome, cellular response to zinc ion starvation, BMP signaling pathway, BMP signaling pathway, cellular zinc ion homeostasis, eye development, 3 2 4 0 1 3 0 1 0 ENSG00000139546 chr12 53500921 53506431 + TARBP2 protein_coding HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008]. 6895 GO:0070578, GO:0048471, GO:0016604, GO:0016442, GO:0005829, GO:0005737, GO:0005654, RISC-loading complex, perinuclear region of cytoplasm, nuclear body, RISC complex, cytosol, cytoplasm, nucleoplasm, GO:0070883, GO:0070883, GO:0047485, GO:0042803, GO:0042802, GO:0036002, GO:0035198, GO:0035197, GO:0019899, GO:0005515, GO:0003725, pre-miRNA binding, pre-miRNA binding, protein N-terminus binding, protein homodimerization activity, identical protein binding, pre-mRNA binding, miRNA binding, siRNA binding, enzyme binding, protein binding, double-stranded RNA binding, GO:1903798, GO:0090065, GO:0061351, GO:0051149, GO:0050689, GO:0046782, GO:0045727, GO:0045070, GO:0043403, GO:0035280, GO:0035264, GO:0035196, GO:0035087, GO:0031054, GO:0030423, GO:0030422, GO:0030422, GO:0010586, GO:0007338, GO:0007286, GO:0006469, regulation of production of miRNAs involved in gene silencing by miRNA, regulation of production of siRNA involved in RNA interference, neural precursor cell proliferation, positive regulation of muscle cell differentiation, negative regulation of defense response to virus by host, regulation of viral transcription, positive regulation of translation, positive regulation of viral genome replication, skeletal muscle tissue regeneration, miRNA loading onto RISC involved in gene silencing by miRNA, multicellular organism growth, production of miRNAs involved in gene silencing by miRNA, siRNA loading onto RISC involved in RNA interference, pre-miRNA processing, targeting of mRNA for destruction involved in RNA interference, production of siRNA involved in RNA interference, production of siRNA involved in RNA interference, miRNA metabolic process, single fertilization, spermatid development, negative regulation of protein kinase activity, 20 24 15 37 49 22 16 36 25 ENSG00000139547 chr12 56951431 56959374 - RDH16 protein_coding 8608 GO:0043231, GO:0016021, GO:0005789, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0047044, GO:0047023, GO:0042802, GO:0009055, GO:0004745, androstan-3-alpha,17-beta-diol dehydrogenase activity, androsterone dehydrogenase activity, identical protein binding, electron transfer activity, retinol dehydrogenase activity, GO:0042572, GO:0022900, GO:0008202, GO:0006629, retinol metabolic process, electron transport chain, steroid metabolic process, lipid metabolic process, 3 0 0 0 0 2 0 0 0 ENSG00000139549 chr12 49086656 49094819 - DHH protein_coding This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]. 50846 GO:0005886, GO:0005615, plasma membrane, extracellular space, GO:0008270, GO:0008233, GO:0005515, GO:0005509, GO:0005509, GO:0005113, zinc ion binding, peptidase activity, protein binding, calcium ion binding, calcium ion binding, patched binding, GO:0050810, GO:0043627, GO:0042552, GO:0033327, GO:0032355, GO:0030238, GO:0016540, GO:0010468, GO:0007286, GO:0007267, GO:0007224, GO:0001708, GO:0001649, regulation of steroid biosynthetic process, response to estrogen, myelination, Leydig cell differentiation, response to estradiol, male sex determination, protein autoprocessing, regulation of gene expression, spermatid development, cell-cell signaling, smoothened signaling pathway, cell fate specification, osteoblast differentiation, 0 0 0 5 5 3 0 2 6 ENSG00000139567 chr12 51906908 51923361 + ACVRL1 protein_coding This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]. 94 GO:0070724, GO:0043235, GO:0043025, GO:0030425, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, BMP receptor complex, receptor complex, neuronal cell body, dendrite, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0098821, GO:0050431, GO:0048185, GO:0046872, GO:0046332, GO:0046332, GO:0019901, GO:0016361, GO:0005524, GO:0005515, GO:0005025, GO:0005025, GO:0005024, GO:0004675, GO:0004674, GO:0004674, BMP receptor activity, transforming growth factor beta binding, activin binding, metal ion binding, SMAD binding, SMAD binding, protein kinase binding, activin receptor activity, type I, ATP binding, protein binding, transforming growth factor beta receptor activity, type I, transforming growth factor beta receptor activity, type I, transforming growth factor beta-activated receptor activity, transmembrane receptor protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000279, GO:0090500, GO:0071773, GO:0071560, GO:0071363, GO:0061298, GO:0061154, GO:0060841, GO:0060840, GO:0060836, GO:0051895, GO:0045944, GO:0045944, GO:0045893, GO:0045766, GO:0045603, GO:0045602, GO:0043537, GO:0043535, GO:0035912, GO:0035313, GO:0032924, GO:0032332, GO:0030513, GO:0030509, GO:0030509, GO:0030509, GO:0030336, GO:0030308, GO:0010862, GO:0010629, GO:0010596, GO:0009953, GO:0008285, GO:0008217, GO:0008015, GO:0007507, GO:0007179, GO:0007179, GO:0007165, GO:0007162, GO:0006468, GO:0006468, GO:0006355, GO:0006275, GO:0003203, GO:0002043, GO:0001974, GO:0001955, GO:0001946, GO:0001938, GO:0001937, GO:0001936, GO:0001701, GO:0001666, GO:0001525, GO:0001525, negative regulation of DNA biosynthetic process, endocardial cushion to mesenchymal transition, cellular response to BMP stimulus, cellular response to transforming growth factor beta stimulus, cellular response to growth factor stimulus, retina vasculature development in camera-type eye, endothelial tube morphogenesis, venous blood vessel development, artery development, lymphatic endothelial cell differentiation, negative regulation of focal adhesion assembly, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of angiogenesis, positive regulation of endothelial cell differentiation, negative regulation of endothelial cell differentiation, negative regulation of blood vessel endothelial cell migration, regulation of blood vessel endothelial cell migration, dorsal aorta morphogenesis, wound healing, spreading of epidermal cells, activin receptor signaling pathway, positive regulation of chondrocyte differentiation, positive regulation of BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, negative regulation of cell migration, negative regulation of cell growth, positive regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of gene expression, negative regulation of endothelial cell migration, dorsal/ventral pattern formation, negative regulation of cell population proliferation, regulation of blood pressure, blood circulation, heart development, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, signal transduction, negative regulation of cell adhesion, protein phosphorylation, protein phosphorylation, regulation of transcription, DNA-templated, regulation of DNA replication, endocardial cushion morphogenesis, blood vessel endothelial cell proliferation involved in sprouting angiogenesis, blood vessel remodeling, blood vessel maturation, lymphangiogenesis, positive regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, regulation of endothelial cell proliferation, in utero embryonic development, response to hypoxia, angiogenesis, angiogenesis, 0 0 0 1 0 0 0 0 0 ENSG00000139572 chr12 54362445 54364487 - GPR84 protein_coding 53831 GO:0070821, GO:0043235, GO:0035579, GO:0005887, GO:0005886, tertiary granule membrane, receptor complex, specific granule membrane, integral component of plasma membrane, plasma membrane, GO:0008528, GO:0001604, G protein-coupled peptide receptor activity, urotensin II receptor activity, GO:0043312, GO:0008150, GO:0007218, GO:0007186, neutrophil degranulation, biological_process, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 4 4 204 3 2 53 14 6 83 ENSG00000139574 chr12 53506690 53507638 - NPFF protein_coding This gene encodes a member of the FMRFamide related peptide (FARP) family of neuropeptides. The encoded preproprotein is proteolytically processed to generate multiple amidated peptides. These peptides may play a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. Patients with hypertension exhibit decreased expression of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 8620 GO:0098794, GO:0043679, GO:0043204, GO:0031982, GO:0030425, GO:0005615, GO:0005576, postsynapse, axon terminus, perikaryon, vesicle, dendrite, extracellular space, extracellular region, GO:0005184, GO:0005102, GO:0001664, neuropeptide hormone activity, signaling receptor binding, G protein-coupled receptor binding, GO:0070253, GO:0060135, GO:0060079, GO:0051930, GO:0046676, GO:0045777, GO:0043278, GO:0042493, GO:0032099, GO:0030103, GO:0021510, GO:0010459, GO:0007268, GO:0007218, GO:0007204, GO:0007186, GO:0003254, GO:0002438, somatostatin secretion, maternal process involved in female pregnancy, excitatory postsynaptic potential, regulation of sensory perception of pain, negative regulation of insulin secretion, positive regulation of blood pressure, response to morphine, response to drug, negative regulation of appetite, vasopressin secretion, spinal cord development, negative regulation of heart rate, chemical synaptic transmission, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, regulation of membrane depolarization, acute inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000139579 chr12 56222015 56229854 + NABP2 protein_coding Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]. 79035 GO:0070876, GO:0070876, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000781, GO:0000781, SOSS complex, SOSS complex, cytosol, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, chromosome, telomeric region, GO:0098505, GO:0070182, GO:0061730, GO:0005515, GO:0003697, GO:0003677, G-rich strand telomeric DNA binding, DNA polymerase binding, C-rich strand telomeric DNA binding, protein binding, single-stranded DNA binding, DNA binding, GO:1904355, GO:0070200, GO:0051972, GO:0042795, GO:0010212, GO:0010212, GO:0007093, GO:0007093, GO:0006974, GO:0006281, GO:0006281, GO:0000724, GO:0000724, positive regulation of telomere capping, establishment of protein localization to telomere, regulation of telomerase activity, snRNA transcription by RNA polymerase II, response to ionizing radiation, response to ionizing radiation, mitotic cell cycle checkpoint, mitotic cell cycle checkpoint, cellular response to DNA damage stimulus, DNA repair, DNA repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 7 16 8 23 20 47 21 8 23 ENSG00000139597 chr13 32400723 32428311 - N4BP2L1 protein_coding 90634 66 93 99 109 77 150 116 84 98 ENSG00000139610 chr12 51328443 51346679 - CELA1 protein_coding Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]. 1990 GO:0005615, extracellular space, GO:0046872, GO:0004252, metal ion binding, serine-type endopeptidase activity, GO:0061113, GO:0060309, GO:0048771, GO:0045944, GO:0045766, GO:0045595, GO:0042127, GO:0035264, GO:0031017, GO:0016055, GO:0009791, GO:0006954, GO:0006508, GO:0000122, pancreas morphogenesis, elastin catabolic process, tissue remodeling, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, regulation of cell differentiation, regulation of cell population proliferation, multicellular organism growth, exocrine pancreas development, Wnt signaling pathway, post-embryonic development, inflammatory response, proteolysis, negative regulation of transcription by RNA polymerase II, 0 0 0 3 0 1 5 0 2 ENSG00000139613 chr12 56162983 56189567 - SMARCC2 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6601 GO:0071565, GO:0071565, GO:0071564, GO:0071564, GO:0032991, GO:0016514, GO:0016514, GO:0005654, GO:0005654, GO:0000785, nBAF complex, nBAF complex, npBAF complex, npBAF complex, protein-containing complex, SWI/SNF complex, SWI/SNF complex, nucleoplasm, nucleoplasm, chromatin, GO:0042393, GO:0031492, GO:0005515, GO:0003713, histone binding, nucleosomal DNA binding, protein binding, transcription coactivator activity, GO:0045893, GO:0045893, GO:0045892, GO:0043044, GO:0043044, GO:0007399, GO:0006357, GO:0006338, GO:0006337, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, ATP-dependent chromatin remodeling, ATP-dependent chromatin remodeling, nervous system development, regulation of transcription by RNA polymerase II, chromatin remodeling, nucleosome disassembly, 680 899 838 575 638 669 629 530 526 ENSG00000139618 chr13 32315474 32400266 + BRCA2 protein_coding Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]. 675 GO:0033593, GO:0032991, GO:0030141, GO:0005829, GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000800, GO:0000781, BRCA2-MAGE-D1 complex, protein-containing complex, secretory granule, cytosol, centrosome, nucleoplasm, nucleoplasm, nucleus, nucleus, lateral element, chromosome, telomeric region, GO:0043015, GO:0042802, GO:0010485, GO:0010484, GO:0008022, GO:0005515, GO:0004402, GO:0003697, GO:0002020, gamma-tubulin binding, identical protein binding, H4 histone acetyltransferase activity, H3 histone acetyltransferase activity, protein C-terminus binding, protein binding, histone acetyltransferase activity, single-stranded DNA binding, protease binding, GO:1990426, GO:0070200, GO:0051298, GO:0048478, GO:0045931, GO:0045893, GO:0043967, GO:0043966, GO:0042771, GO:0033600, GO:0032465, GO:0030097, GO:0010332, GO:0010225, GO:0010165, GO:0008585, GO:0007569, GO:0007420, GO:0007283, GO:0007141, GO:0006978, GO:0006355, GO:0006302, GO:0006289, GO:0001833, GO:0001556, GO:0000724, GO:0000724, GO:0000724, GO:0000722, mitotic recombination-dependent replication fork processing, establishment of protein localization to telomere, centrosome duplication, replication fork protection, positive regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, histone H4 acetylation, histone H3 acetylation, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, negative regulation of mammary gland epithelial cell proliferation, regulation of cytokinesis, hemopoiesis, response to gamma radiation, response to UV-C, response to X-ray, female gonad development, cell aging, brain development, spermatogenesis, male meiosis I, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, regulation of transcription, DNA-templated, double-strand break repair, nucleotide-excision repair, inner cell mass cell proliferation, oocyte maturation, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance via recombination, 62 51 84 32 54 74 32 39 48 ENSG00000139620 chr12 48653401 48682238 - KANSL2 protein_coding 54934 GO:0044545, GO:0015629, GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0000123, NSL complex, actin cytoskeleton, plasma membrane, cytosol, nucleoplasm, nucleoplasm, histone acetyltransferase complex, GO:0046972, GO:0046972, GO:0043996, GO:0043996, GO:0043995, GO:0043995, GO:0005515, histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), histone acetyltransferase activity (H4-K5 specific), protein binding, GO:0043984, GO:0043984, GO:0043982, GO:0043982, GO:0043981, GO:0043981, histone H4-K16 acetylation, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H4-K5 acetylation, 103 107 145 199 161 233 191 113 152 ENSG00000139624 chr12 50129306 50167533 - CERS5 protein_coding This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 91012 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0050291, GO:0050291, GO:0016410, GO:0003677, sphingosine N-acyltransferase activity, sphingosine N-acyltransferase activity, N-acyltransferase activity, DNA binding, GO:0046513, GO:0046513, GO:0030148, ceramide biosynthetic process, ceramide biosynthetic process, sphingolipid biosynthetic process, 378 406 427 385 424 416 336 285 311 ENSG00000139625 chr12 53479669 53500063 - MAP3K12 protein_coding This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]. 7786 GO:0030426, GO:0016020, GO:0005886, GO:0005829, GO:0005737, growth cone, membrane, plasma membrane, cytosol, cytoplasm, GO:0042803, GO:0019901, GO:0005524, GO:0005515, GO:0004706, GO:0004706, GO:0004674, GO:0004672, protein homodimerization activity, protein kinase binding, ATP binding, protein binding, JUN kinase kinase kinase activity, JUN kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000672, GO:0070374, GO:0046777, GO:0045893, GO:0035556, GO:0018107, GO:0018105, GO:0016572, GO:0007257, GO:0007257, GO:0007256, GO:0007254, GO:0006468, GO:0006468, negative regulation of motor neuron apoptotic process, positive regulation of ERK1 and ERK2 cascade, protein autophosphorylation, positive regulation of transcription, DNA-templated, intracellular signal transduction, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, histone phosphorylation, activation of JUN kinase activity, activation of JUN kinase activity, activation of JNKK activity, JNK cascade, protein phosphorylation, protein phosphorylation, 165 270 277 218 331 305 216 306 238 ENSG00000139626 chr12 53191318 53207307 - ITGB7 protein_coding This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]. 3695 GO:0070062, GO:0043235, GO:0034669, GO:0016020, GO:0009986, GO:0009986, GO:0008305, GO:0008305, GO:0005925, GO:0005886, extracellular exosome, receptor complex, integrin alpha4-beta7 complex, membrane, cell surface, cell surface, integrin complex, integrin complex, focal adhesion, plasma membrane, GO:0050839, GO:0046872, GO:0038023, GO:0005515, GO:0005178, GO:0001618, cell adhesion molecule binding, metal ion binding, signaling receptor activity, protein binding, integrin binding, virus receptor activity, GO:0072678, GO:0050901, GO:0050776, GO:0046718, GO:0043113, GO:0034446, GO:0034113, GO:0033627, GO:0030198, GO:0016477, GO:0007229, GO:0007229, GO:0007160, GO:0007160, GO:0007155, GO:0003366, T cell migration, leukocyte tethering or rolling, regulation of immune response, viral entry into host cell, receptor clustering, substrate adhesion-dependent cell spreading, heterotypic cell-cell adhesion, cell adhesion mediated by integrin, extracellular matrix organization, cell migration, integrin-mediated signaling pathway, integrin-mediated signaling pathway, cell-matrix adhesion, cell-matrix adhesion, cell adhesion, cell-matrix adhesion involved in ameboidal cell migration, 116 112 312 317 137 455 349 131 366 ENSG00000139629 chr12 51351247 51392867 - GALNT6 protein_coding This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]. 11226 GO:0048471, GO:0016021, GO:0005794, GO:0005794, GO:0000139, perinuclear region of cytoplasm, integral component of membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0005515, GO:0004653, metal ion binding, carbohydrate binding, protein binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, GO:0006493, O-glycan processing, protein O-linked glycosylation, 16 40 118 50 12 54 63 10 24 ENSG00000139631 chr12 53157663 53180909 - CSAD protein_coding This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 51380 GO:0005737, cytoplasm, GO:0030170, GO:0004782, GO:0004068, pyridoxal phosphate binding, sulfinoalanine decarboxylase activity, aspartate 1-decarboxylase activity, GO:0042412, GO:0019452, GO:0019449, taurine biosynthetic process, L-cysteine catabolic process to taurine, L-cysteine catabolic process to hypotaurine, 1253 1150 1448 2302 2172 2752 2253 1500 2165 ENSG00000139636 chr12 49096551 49110900 - LMBR1L protein_coding 55716 GO:0005887, GO:0005887, GO:0005886, GO:0005789, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0005515, GO:0004888, GO:0004888, protein binding, transmembrane signaling receptor activity, transmembrane signaling receptor activity, GO:0090090, GO:0070231, GO:0060218, GO:0042098, GO:0030217, GO:0016055, GO:0007165, GO:0007165, GO:0006898, GO:0006898, negative regulation of canonical Wnt signaling pathway, T cell apoptotic process, hematopoietic stem cell differentiation, T cell proliferation, T cell differentiation, Wnt signaling pathway, signal transduction, signal transduction, receptor-mediated endocytosis, receptor-mediated endocytosis, 535 755 722 627 906 654 704 646 589 ENSG00000139637 chr12 53299686 53307177 + C12orf10 protein_coding 60314 GO:0005759, GO:0005739, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, mitochondrial matrix, mitochondrion, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0004518, GO:0003674, protein binding, nuclease activity, molecular_function, GO:0090305, GO:0035641, nucleic acid phosphodiester bond hydrolysis, locomotory exploration behavior, 27 25 47 38 66 97 59 48 64 ENSG00000139641 chr12 56118250 56144671 + ESYT1 protein_coding 23344 GO:0031234, GO:0031227, GO:0030176, GO:0016020, GO:0005789, GO:0005783, extrinsic component of cytoplasmic side of plasma membrane, intrinsic component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042802, GO:0035091, GO:0031210, GO:0008429, GO:0005544, GO:0005515, GO:0005509, identical protein binding, phosphatidylinositol binding, phosphatidylcholine binding, phosphatidylethanolamine binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, GO:0061817, GO:0006869, GO:0006687, endoplasmic reticulum-plasma membrane tethering, lipid transport, glycosphingolipid metabolic process, 188 255 345 358 202 377 350 191 360 ENSG00000139644 chr12 49707725 49764934 + TMBIM6 protein_coding 7009 GO:0031966, GO:0016021, GO:0016020, GO:0005887, GO:0005789, GO:0005783, GO:0005737, GO:0005634, mitochondrial membrane, integral component of membrane, membrane, integral component of plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleus, GO:0060698, GO:0031625, GO:0019899, GO:0005515, endoribonuclease inhibitor activity, ubiquitin protein ligase binding, enzyme binding, protein binding, GO:2001234, GO:1990441, GO:1903298, GO:1902236, GO:1902065, GO:0070059, GO:0060702, GO:0043066, GO:0034620, GO:0033119, GO:0032469, GO:0032091, GO:0010523, GO:0006914, GO:0002638, negative regulation of apoptotic signaling pathway, negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, response to L-glutamate, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, negative regulation of endoribonuclease activity, negative regulation of apoptotic process, cellular response to unfolded protein, negative regulation of RNA splicing, endoplasmic reticulum calcium ion homeostasis, negative regulation of protein binding, negative regulation of calcium ion transport into cytosol, autophagy, negative regulation of immunoglobulin production, 6898 7497 8867 2146 3855 3028 2462 3948 2823 ENSG00000139645 chr12 56237807 56258391 - ANKRD52 protein_coding 283373 GO:0005515, protein binding, 149 153 171 194 175 247 183 126 208 ENSG00000139648 chr12 52543909 52553147 - KRT71 protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]. 112802 GO:0070062, GO:0045095, GO:0005829, extracellular exosome, keratin filament, cytosol, GO:0005515, protein binding, GO:0070268, GO:0045109, GO:0031424, GO:0031069, cornification, intermediate filament organization, keratinization, hair follicle morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000139651 chr12 53180700 53195141 + ZNF740 protein_coding 283337 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 197 221 364 309 190 367 328 194 311 ENSG00000139656 chr13 44143543 44161257 - SMIM2 protein_coding 79024 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 1 0 0 0 0 ENSG00000139668 chr13 51584455 51767707 + WDFY2 protein_coding This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]. 115825 GO:0031982, GO:0005769, vesicle, early endosome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0045600, GO:0001934, positive regulation of fat cell differentiation, positive regulation of protein phosphorylation, 1585 1211 1423 1383 1391 1428 1537 915 1078 ENSG00000139675 chr13 52642425 52643796 + HNRNPA1L2 protein_coding 144983 GO:0005737, GO:0005681, cytoplasm, spliceosomal complex, GO:0003723, RNA binding, GO:0051028, GO:0008380, GO:0006397, mRNA transport, RNA splicing, mRNA processing, 11 10 19 22 17 23 19 10 17 ENSG00000139679 chr13 48389567 48444704 - LPAR6 protein_coding The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. 10161 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0070915, GO:0005515, GO:0004930, lysophosphatidic acid receptor activity, protein binding, G protein-coupled receptor activity, GO:0051482, GO:0035025, GO:0007186, GO:0001835, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of Rho protein signal transduction, G protein-coupled receptor signaling pathway, blastocyst hatching, 135 88 205 231 69 232 173 113 187 ENSG00000139684 chr13 46771256 46797232 - ESD protein_coding This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]. 2098 GO:0070062, GO:0031410, GO:0005829, GO:0005788, extracellular exosome, cytoplasmic vesicle, cytosol, endoplasmic reticulum lumen, GO:0052689, GO:0047374, GO:0042802, GO:0018738, GO:0016788, GO:0005515, carboxylic ester hydrolase activity, methylumbelliferyl-acetate deacetylase activity, identical protein binding, S-formylglutathione hydrolase activity, hydrolase activity, acting on ester bonds, protein binding, GO:1901687, GO:0046294, GO:0008150, glutathione derivative biosynthetic process, formaldehyde catabolic process, biological_process, 32 24 49 74 49 61 55 37 42 ENSG00000139687 chr13 48303726 48599436 + RB1 protein_coding The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]. 5925 GO:0035189, GO:0035189, GO:0035189, GO:0016605, GO:0016514, GO:0008024, GO:0005819, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, Rb-E2F complex, Rb-E2F complex, Rb-E2F complex, PML body, SWI/SNF complex, cyclin/CDK positive transcription elongation factor complex, spindle, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:0097718, GO:0061676, GO:0051219, GO:0042802, GO:0031625, GO:0019900, GO:0008134, GO:0005515, GO:0001102, GO:0000977, disordered domain specific binding, importin-alpha family protein binding, phosphoprotein binding, identical protein binding, ubiquitin protein ligase binding, kinase binding, transcription factor binding, protein binding, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001234, GO:2000679, GO:2000134, GO:2000134, GO:1904761, GO:1904028, GO:1903055, GO:1902948, GO:0120163, GO:0097284, GO:0090230, GO:0071930, GO:0071922, GO:0071901, GO:0071466, GO:0071459, GO:0051402, GO:0051301, GO:0051146, GO:0050728, GO:0050680, GO:0048667, GO:0048565, GO:0045944, GO:0045892, GO:0045892, GO:0045879, GO:0045842, GO:0045786, GO:0045651, GO:0045445, GO:0043550, GO:0043433, GO:0043353, GO:0042551, GO:0035914, GO:0034349, GO:0034088, GO:0031175, GO:0031134, GO:0030308, GO:0030154, GO:0016032, GO:0010629, GO:0007346, GO:0007265, GO:0007093, GO:0007050, GO:0006469, GO:0006355, GO:0006338, GO:0003180, GO:0001894, GO:0000122, GO:0000082, negative regulation of apoptotic signaling pathway, positive regulation of transcription regulatory region DNA binding, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of myofibroblast differentiation, positive regulation of collagen fibril organization, positive regulation of extracellular matrix organization, negative regulation of tau-protein kinase activity, negative regulation of cold-induced thermogenesis, hepatocyte apoptotic process, regulation of centromere complex assembly, negative regulation of transcription involved in G1/S transition of mitotic cell cycle, regulation of cohesin loading, negative regulation of protein serine/threonine kinase activity, cellular response to xenobiotic stimulus, protein localization to chromosome, centromeric region, neuron apoptotic process, cell division, striated muscle cell differentiation, negative regulation of inflammatory response, negative regulation of epithelial cell proliferation, cell morphogenesis involved in neuron differentiation, digestive tract development, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of smoothened signaling pathway, positive regulation of mitotic metaphase/anaphase transition, negative regulation of cell cycle, positive regulation of macrophage differentiation, myoblast differentiation, regulation of lipid kinase activity, negative regulation of DNA-binding transcription factor activity, enucleate erythrocyte differentiation, neuron maturation, skeletal muscle cell differentiation, glial cell apoptotic process, maintenance of mitotic sister chromatid cohesion, neuron projection development, sister chromatid biorientation, negative regulation of cell growth, cell differentiation, viral process, negative regulation of gene expression, regulation of mitotic cell cycle, Ras protein signal transduction, mitotic cell cycle checkpoint, cell cycle arrest, negative regulation of protein kinase activity, regulation of transcription, DNA-templated, chromatin remodeling, aortic valve morphogenesis, tissue homeostasis, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 513 507 492 312 393 468 402 359 395 ENSG00000139697 chr12 123289109 123364843 - SBNO1 protein_coding 55206 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0042393, GO:0031490, GO:0003674, histone binding, chromatin DNA binding, molecular_function, GO:0008150, GO:0006355, biological_process, regulation of transcription, DNA-templated, 1737 1222 2051 787 795 970 815 618 756 ENSG00000139714 chr12 121648742 121672631 - MORN3 protein_coding 283385 GO:0005634, nucleus, GO:0005515, protein binding, 39 62 59 65 67 54 84 42 34 ENSG00000139718 chr12 121804180 121832584 + SETD1B protein_coding SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]. 23067 GO:0048188, GO:0035097, GO:0016607, GO:0005694, GO:0005654, GO:0005654, Set1C/COMPASS complex, histone methyltransferase complex, nuclear speck, chromosome, nucleoplasm, nucleoplasm, GO:0042800, GO:0005515, GO:0003723, histone methyltransferase activity (H3-K4 specific), protein binding, RNA binding, GO:0097692, GO:0080182, GO:0051568, GO:0044648, histone H3-K4 monomethylation, histone H3-K4 trimethylation, histone H3-K4 methylation, histone H3-K4 dimethylation, 1028 1530 1127 853 1469 1217 1049 1107 892 ENSG00000139719 chr12 122229564 122266521 - VPS33A protein_coding This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]. 65082 GO:0071439, GO:0048471, GO:0033263, GO:0031902, GO:0030897, GO:0030136, GO:0030123, GO:0005776, GO:0005770, GO:0005769, GO:0005765, GO:0005764, clathrin complex, perinuclear region of cytoplasm, CORVET complex, late endosome membrane, HOPS complex, clathrin-coated vesicle, AP-3 adaptor complex, autophagosome, late endosome, early endosome, lysosomal membrane, lysosome, GO:0005515, protein binding, GO:0097352, GO:0048070, GO:0035751, GO:0032418, GO:0032400, GO:0030220, GO:0016192, GO:0016192, GO:0008333, GO:0006904, GO:0006886, autophagosome maturation, regulation of developmental pigmentation, regulation of lysosomal lumen pH, lysosome localization, melanosome localization, platelet formation, vesicle-mediated transport, vesicle-mediated transport, endosome to lysosome transport, vesicle docking involved in exocytosis, intracellular protein transport, 53 55 77 37 54 74 57 47 40 ENSG00000139722 chr12 122865328 122896444 - VPS37B protein_coding 79720 GO:0070062, GO:0043657, GO:0043231, GO:0031902, GO:0030496, GO:0010008, GO:0010008, GO:0005886, GO:0005768, GO:0005737, GO:0000813, GO:0000813, GO:0000813, extracellular exosome, host cell, intracellular membrane-bounded organelle, late endosome membrane, midbody, endosome membrane, endosome membrane, plasma membrane, endosome, cytoplasm, ESCRT I complex, ESCRT I complex, ESCRT I complex, GO:0048306, GO:0005515, calcium-dependent protein binding, protein binding, GO:1903774, GO:1902188, GO:0075733, GO:0043162, GO:0039702, GO:0036258, GO:0032509, GO:0019058, GO:0016236, GO:0016197, GO:0006623, GO:0006612, positive regulation of viral budding via host ESCRT complex, positive regulation of viral release from host cell, intracellular transport of virus, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, protein targeting to vacuole, protein targeting to membrane, 1592 1552 1806 3027 2781 2521 2637 1940 1649 ENSG00000139725 chr12 121777754 121803403 - RHOF protein_coding 54509 GO:0070062, GO:0043231, GO:0042995, GO:0031410, GO:0030667, GO:0005938, GO:0005886, GO:0005886, GO:0005856, GO:0005856, GO:0005829, extracellular exosome, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, secretory granule membrane, cell cortex, plasma membrane, plasma membrane, cytoskeleton, cytoskeleton, cytosol, GO:0019901, GO:0005525, GO:0003924, GO:0003924, protein kinase binding, GTP binding, GTPase activity, GTPase activity, GO:0051056, GO:0043312, GO:0032956, GO:0030865, GO:0016477, GO:0008360, GO:0007264, GO:0007163, GO:0007015, GO:0007015, regulation of small GTPase mediated signal transduction, neutrophil degranulation, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, cell migration, regulation of cell shape, small GTPase mediated signal transduction, establishment or maintenance of cell polarity, actin filament organization, actin filament organization, 547 594 838 213 278 325 226 195 284 ENSG00000139726 chr12 122752774 122771064 + DENR protein_coding This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008]. 8562 GO:0005575, cellular_component, GO:0005515, GO:0003743, GO:0003729, GO:0003674, protein binding, translation initiation factor activity, mRNA binding, molecular_function, GO:0075522, GO:0032790, GO:0002188, GO:0001731, GO:0001731, IRES-dependent viral translational initiation, ribosome disassembly, translation reinitiation, formation of translation preinitiation complex, formation of translation preinitiation complex, 262 243 281 216 265 265 234 225 198 ENSG00000139734 chr13 59665583 60163987 - DIAPH3 protein_coding This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 81624 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0045296, GO:0031267, GO:0003779, cadherin binding, small GTPase binding, actin binding, GO:0030041, GO:0030036, GO:0007010, actin filament polymerization, actin cytoskeleton organization, cytoskeleton organization, 0 0 0 0 0 2 0 0 0 ENSG00000139737 chr13 77697854 77764242 + SLAIN1 protein_coding 122060 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0005515, protein binding, 10 6 21 37 8 62 29 11 39 ENSG00000139746 chr13 79311824 79406477 - RBM26 protein_coding 64062 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003729, GO:0003723, metal ion binding, protein binding, mRNA binding, RNA binding, GO:0046833, GO:0010923, GO:0006397, positive regulation of RNA export from nucleus, negative regulation of phosphatase activity, mRNA processing, 644 753 780 764 750 744 851 535 586 ENSG00000139767 chr12 118981495 119163051 + SRRM4 protein_coding SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]. 84530 GO:0005634, GO:0005634, nucleus, nucleus, GO:0042802, GO:0005515, GO:0003729, GO:0003729, identical protein binding, protein binding, mRNA binding, mRNA binding, GO:0043484, GO:0043484, GO:0042551, GO:0030154, GO:0008380, GO:0007605, GO:0007399, GO:0006397, GO:0006397, GO:0000381, GO:0000381, regulation of RNA splicing, regulation of RNA splicing, neuron maturation, cell differentiation, RNA splicing, sensory perception of sound, nervous system development, mRNA processing, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000139780 chr13 102685744 102694504 - METTL21C protein_coding 196541 GO:0032991, GO:0005829, GO:0005737, GO:0005634, protein-containing complex, cytosol, cytoplasm, nucleus, GO:0031072, GO:0016279, GO:0016279, GO:0005515, heat shock protein binding, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, GO:0071549, GO:0018023, GO:0018022, GO:0010880, GO:0008628, GO:0007519, GO:0006479, cellular response to dexamethasone stimulus, peptidyl-lysine trimethylation, peptidyl-lysine methylation, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, hormone-mediated apoptotic signaling pathway, skeletal muscle tissue development, protein methylation, 0 0 0 0 0 0 0 0 0 ENSG00000139793 chr13 97221434 97394120 + MBNL2 protein_coding This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]. 10150 GO:0005737, GO:0005654, GO:0005654, cytoplasm, nucleoplasm, nucleoplasm, GO:1990837, GO:0046872, GO:0003723, GO:0003723, sequence-specific double-stranded DNA binding, metal ion binding, RNA binding, RNA binding, GO:0043484, GO:0008380, GO:0006397, GO:0000381, regulation of RNA splicing, RNA splicing, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, 50 29 99 56 20 81 58 26 69 ENSG00000139797 chr13 98175785 98177265 - RNF113B protein_coding 140432 GO:0005684, U2-type spliceosomal complex, GO:0046872, metal ion binding, GO:0034247, snoRNA splicing, 0 0 0 0 0 0 0 0 0 ENSG00000139800 chr13 99962964 99971909 - ZIC5 protein_coding This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]. 85416 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0007417, GO:0006357, cell differentiation, central nervous system development, regulation of transcription by RNA polymerase II, 0 0 1 0 0 0 0 0 0 ENSG00000139826 chr13 108218379 108234255 + ABHD13 protein_coding 84945 GO:0032839, GO:0016021, GO:0016020, GO:0016020, dendrite cytoplasm, integral component of membrane, membrane, membrane, GO:0008474, palmitoyl-(protein) hydrolase activity, GO:0002084, protein depalmitoylation, 693 601 719 201 336 237 233 308 312 ENSG00000139832 chr13 110523066 110561733 - RAB20 protein_coding 55647 GO:0045335, GO:0043231, GO:0030670, GO:0012505, GO:0005794, phagocytic vesicle, intracellular membrane-bounded organelle, phagocytic vesicle membrane, endomembrane system, Golgi apparatus, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0090385, GO:0090383, GO:0071346, GO:0006886, phagosome-lysosome fusion, phagosome acidification, cellular response to interferon-gamma, intracellular protein transport, 819 779 680 135 204 117 153 212 132 ENSG00000139835 chr13 113324164 113364148 - GRTP1 protein_coding 79774 GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 5 5 7 175 179 302 115 119 115 ENSG00000139842 chr13 113208193 113267108 + CUL4A protein_coding CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009]. 8451 GO:0080008, GO:0080008, GO:0031464, GO:0031464, GO:0031461, GO:0019005, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, SCF ubiquitin ligase complex, nucleoplasm, GO:0031625, GO:0005515, GO:0004842, ubiquitin protein ligase binding, protein binding, ubiquitin-protein transferase activity, GO:2000819, GO:2000001, GO:1900087, GO:0097193, GO:0070911, GO:0051246, GO:0048511, GO:0043687, GO:0043161, GO:0042769, GO:0042254, GO:0035019, GO:0033683, GO:0031146, GO:0030853, GO:0030097, GO:0016567, GO:0016567, GO:0016567, GO:0016567, GO:0016032, GO:0008284, GO:0006974, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006283, GO:0001701, GO:0000717, GO:0000715, GO:0000082, regulation of nucleotide-excision repair, regulation of DNA damage checkpoint, positive regulation of G1/S transition of mitotic cell cycle, intrinsic apoptotic signaling pathway, global genome nucleotide-excision repair, regulation of protein metabolic process, rhythmic process, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, DNA damage response, detection of DNA damage, ribosome biogenesis, somatic stem cell population maintenance, nucleotide-excision repair, DNA incision, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, negative regulation of granulocyte differentiation, hemopoiesis, protein ubiquitination, protein ubiquitination, protein ubiquitination, protein ubiquitination, viral process, positive regulation of cell population proliferation, cellular response to DNA damage stimulus, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, transcription-coupled nucleotide-excision repair, in utero embryonic development, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, G1/S transition of mitotic cell cycle, 182 215 298 282 262 350 259 208 244 ENSG00000139865 chr14 37595847 38041442 + TTC6 protein_coding 319089 0 0 0 0 0 0 0 0 0 ENSG00000139874 chr14 38207999 38213067 + SSTR1 protein_coding Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012]. 6751 GO:0043005, GO:0005887, GO:0005886, GO:0005886, GO:0005737, neuron projection, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042923, GO:0042277, GO:0004994, GO:0004994, GO:0004930, neuropeptide binding, peptide binding, somatostatin receptor activity, somatostatin receptor activity, G protein-coupled receptor activity, GO:1990830, GO:0071392, GO:0042594, GO:0038170, GO:0030900, GO:0021549, GO:0008285, GO:0007283, GO:0007218, GO:0007215, GO:0007187, GO:0007186, cellular response to leukemia inhibitory factor, cellular response to estradiol stimulus, response to starvation, somatostatin signaling pathway, forebrain development, cerebellum development, negative regulation of cell population proliferation, spermatogenesis, neuropeptide signaling pathway, glutamate receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000139880 chr14 23047062 23057538 - CDH24 protein_coding 64403 GO:0016342, GO:0016021, GO:0005912, GO:0005911, GO:0005886, catenin complex, integral component of membrane, adherens junction, cell-cell junction, plasma membrane, GO:0045296, GO:0005509, GO:0005509, cadherin binding, calcium ion binding, calcium ion binding, GO:0098742, GO:0098609, GO:0034332, GO:0034332, GO:0016339, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, adherens junction organization, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 4 3 7 12 6 11 2 2 5 ENSG00000139890 chr14 22883165 22887686 + REM2 protein_coding 161253 GO:0005886, plasma membrane, GO:0005525, GO:0005515, GO:0005246, GO:0003924, GTP binding, protein binding, calcium channel regulator activity, GTPase activity, GO:0007165, signal transduction, 629 783 754 1043 1493 1425 1081 973 1118 ENSG00000139899 chr14 24426532 24430954 - CBLN3 protein_coding Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009]. 643866 GO:0045202, GO:0005794, GO:0005783, GO:0005615, synapse, Golgi apparatus, endoplasmic reticulum, extracellular space, 111 88 155 59 95 98 75 64 56 ENSG00000139908 chr14 24205697 24208362 + TSSK4 protein_coding This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 283629 GO:0036126, GO:0005737, GO:0005634, GO:0001669, sperm flagellum, cytoplasm, nucleus, acrosomal vesicle, GO:0106311, GO:0106310, GO:0044877, GO:0042803, GO:0005524, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0000287, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein-containing complex binding, protein homodimerization activity, ATP binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, magnesium ion binding, GO:1990443, GO:0035556, GO:0032793, GO:0030317, GO:0018105, GO:0009566, GO:0007286, GO:0007275, GO:0006468, GO:0006468, GO:0006468, peptidyl-threonine autophosphorylation, intracellular signal transduction, positive regulation of CREB transcription factor activity, flagellated sperm motility, peptidyl-serine phosphorylation, fertilization, spermatid development, multicellular organism development, protein phosphorylation, protein phosphorylation, protein phosphorylation, 70 72 88 77 71 66 56 76 73 ENSG00000139910 chr14 26443093 26597754 - NOVA1 protein_coding This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 4857 GO:0045202, GO:0043231, GO:0005737, GO:0005730, GO:0005654, GO:0005634, synapse, intracellular membrane-bounded organelle, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0005515, GO:0003730, GO:0003729, GO:0003723, protein binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, GO:0120163, GO:0051252, GO:0010468, GO:0008380, GO:0007626, GO:0007268, GO:0006396, GO:0000398, GO:0000381, negative regulation of cold-induced thermogenesis, regulation of RNA metabolic process, regulation of gene expression, RNA splicing, locomotory behavior, chemical synaptic transmission, RNA processing, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000139914 chr14 24131275 24132849 + FITM1 protein_coding FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]. 161247 GO:0030176, GO:0005789, GO:0005789, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0003674, molecular_function, GO:0034389, GO:0034389, GO:0034389, GO:0019915, GO:0010890, GO:0008654, lipid droplet organization, lipid droplet organization, lipid droplet organization, lipid storage, positive regulation of sequestering of triglyceride, phospholipid biosynthetic process, 6 9 9 44 38 57 46 24 38 ENSG00000139915 chr14 46840092 47674954 - MDGA2 protein_coding 161357 GO:0031225, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, extracellular region, GO:0021522, GO:0007389, spinal cord motor neuron differentiation, pattern specification process, 0 0 0 0 0 0 0 0 0 ENSG00000139921 chr14 51240162 51257546 + TMX1 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and one transmembrane domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The mature membrane-bound protein can both oxidize and reduce disulfide bonds and acts selectively on membrane-associated polypeptides. [provided by RefSeq, Jan 2017]. 81542 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0015036, GO:0005515, disulfide oxidoreductase activity, protein binding, GO:0055114, GO:0034976, oxidation-reduction process, response to endoplasmic reticulum stress, 142 140 163 126 165 186 134 119 117 ENSG00000139926 chr14 51489100 51730727 + FRMD6 protein_coding 122786 GO:0043296, GO:0005886, GO:0005856, GO:0005737, apical junction complex, plasma membrane, cytoskeleton, cytoplasm, GO:0005515, protein binding, GO:0034613, GO:0032970, GO:0031032, GO:0003383, cellular protein localization, regulation of actin filament-based process, actomyosin structure organization, apical constriction, 4 2 12 5 0 2 2 1 5 ENSG00000139946 chr14 56117814 56301526 + PELI2 protein_coding 57161 GO:0005829, cytosol, GO:0061630, GO:0034450, GO:0005515, ubiquitin protein ligase activity, ubiquitin-ubiquitin ligase activity, protein binding, GO:0070498, GO:0043410, GO:0043123, GO:0008592, GO:0008063, GO:0001934, GO:0000209, interleukin-1-mediated signaling pathway, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of Toll signaling pathway, Toll signaling pathway, positive regulation of protein phosphorylation, protein polyubiquitination, 3190 2595 3106 1509 2151 1686 1800 1619 1459 ENSG00000139970 chr14 59595976 59870966 - RTN1 protein_coding This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]. 6252 GO:0030176, GO:0005783, GO:0000139, integral component of endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, 63 144 60 50 161 30 47 146 23 ENSG00000139971 chr14 57999735 58298139 - ARMH4 protein_coding 145407 GO:0016021, integral component of membrane, 1 0 0 0 0 0 0 0 0 ENSG00000139973 chr14 61811974 62112550 + SYT16 protein_coding 83851 GO:0042802, GO:0005543, GO:0005515, identical protein binding, phospholipid binding, protein binding, GO:0006887, exocytosis, 0 0 0 0 0 2 0 0 0 ENSG00000139974 chr14 60981114 61083733 + SLC38A6 protein_coding 145389 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0015186, GO:0015171, GO:0005515, L-glutamine transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:0006868, GO:0006814, GO:0003333, glutamine transport, sodium ion transport, amino acid transmembrane transport, 1 2 3 27 11 38 20 8 14 ENSG00000139977 chr14 57390544 57415917 + NAA30 protein_coding 122830 GO:0031417, GO:0031417, GO:0005844, GO:0005829, GO:0005737, GO:0005634, NatC complex, NatC complex, polysome, cytosol, cytoplasm, nucleus, GO:0005515, GO:0004596, GO:0004596, protein binding, peptide alpha-N-acetyltransferase activity, peptide alpha-N-acetyltransferase activity, GO:0017196, GO:0017196, N-terminal peptidyl-methionine acetylation, N-terminal peptidyl-methionine acetylation, 64 37 98 70 34 99 43 31 54 ENSG00000139985 chr14 70452157 70459899 + ADAM21 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011]. 8747 GO:1990913, GO:0043025, GO:0030424, GO:0016021, GO:0009897, GO:0005886, GO:0005886, sperm head plasma membrane, neuronal cell body, axon, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0046872, GO:0008237, GO:0005515, GO:0004222, metal ion binding, metallopeptidase activity, protein binding, metalloendopeptidase activity, GO:0008584, GO:0007339, GO:0007338, GO:0006508, male gonad development, binding of sperm to zona pellucida, single fertilization, proteolysis, 0 1 0 0 0 0 0 4 0 ENSG00000139988 chr14 67701886 67734452 + RDH12 protein_coding The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]. 145226 GO:0060342, GO:0005789, GO:0001917, photoreceptor inner segment membrane, endoplasmic reticulum membrane, photoreceptor inner segment, GO:0052650, GO:0052650, GO:0005515, GO:0004745, NADP-retinol dehydrogenase activity, NADP-retinol dehydrogenase activity, protein binding, retinol dehydrogenase activity, GO:0110095, GO:0055114, GO:0045494, GO:0042572, GO:0042572, GO:0007601, GO:0007601, GO:0001523, cellular detoxification of aldehyde, oxidation-reduction process, photoreceptor cell maintenance, retinol metabolic process, retinol metabolic process, visual perception, visual perception, retinoid metabolic process, 4 1 2 4 2 2 8 0 0 ENSG00000139990 chr14 69050881 69153150 - DCAF5 protein_coding 8816 GO:0080008, GO:0080008, GO:0005737, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 661 770 951 503 566 680 543 438 525 ENSG00000139998 chr14 64945814 64973226 - RAB15 protein_coding 376267 GO:0070062, GO:0055037, GO:0048471, GO:0032593, GO:0010008, GO:0008021, GO:0005929, GO:0005886, GO:0005794, GO:0005768, GO:0005737, extracellular exosome, recycling endosome, perinuclear region of cytoplasm, insulin-responsive compartment, endosome membrane, synaptic vesicle, cilium, plasma membrane, Golgi apparatus, endosome, cytoplasm, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:1903307, GO:1903307, GO:0072659, GO:0032869, GO:0032482, GO:0017157, GO:0009306, GO:0006904, positive regulation of regulated secretory pathway, positive regulation of regulated secretory pathway, protein localization to plasma membrane, cellular response to insulin stimulus, Rab protein signal transduction, regulation of exocytosis, protein secretion, vesicle docking involved in exocytosis, 107 42 59 109 65 65 86 56 78 ENSG00000140006 chr14 63597039 63641861 - WDR89 protein_coding 112840 18 21 53 55 18 36 41 10 38 ENSG00000140009 chr14 64084232 64338112 - ESR2 protein_coding This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]. 2100 GO:0005739, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, mitochondrion, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0048019, GO:0042802, GO:0034056, GO:0030284, GO:0030284, GO:0030284, GO:0019899, GO:0008270, GO:0005515, GO:0005496, GO:0005496, GO:0004879, GO:0004879, GO:0004879, GO:0003707, GO:0003677, GO:0000981, GO:0000978, GO:0000978, receptor antagonist activity, identical protein binding, estrogen response element binding, estrogen receptor activity, estrogen receptor activity, estrogen receptor activity, enzyme binding, zinc ion binding, protein binding, steroid binding, steroid binding, nuclear receptor activity, nuclear receptor activity, nuclear receptor activity, steroid hormone receptor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000272, GO:0071392, GO:0051091, GO:0045893, GO:0030520, GO:0030518, GO:0030308, GO:0007267, GO:0007165, GO:0006367, GO:0006357, GO:0006355, GO:0000122, negative regulation of signaling receptor activity, cellular response to estradiol stimulus, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription, DNA-templated, intracellular estrogen receptor signaling pathway, intracellular steroid hormone receptor signaling pathway, negative regulation of cell growth, cell-cell signaling, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 18 30 30 82 58 93 75 49 59 ENSG00000140015 chr14 62699454 63102037 - KCNH5 protein_coding This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 27133 GO:0009986, GO:0005887, GO:0005886, cell surface, integral component of plasma membrane, plasma membrane, GO:0044877, GO:0044325, GO:0005516, GO:0005249, protein-containing complex binding, ion channel binding, calmodulin binding, voltage-gated potassium channel activity, GO:0071805, GO:0042391, GO:0034765, GO:0010389, potassium ion transmembrane transport, regulation of membrane potential, regulation of ion transmembrane transport, regulation of G2/M transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000140022 chr14 81260656 81436465 - STON2 protein_coding This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 85439 GO:0043231, GO:0043005, GO:0031410, GO:0030136, GO:0016020, GO:0008021, GO:0005829, GO:0005829, GO:0005730, intracellular membrane-bounded organelle, neuron projection, cytoplasmic vesicle, clathrin-coated vesicle, membrane, synaptic vesicle, cytosol, cytosol, nucleolus, GO:0035615, GO:0005515, clathrin adaptor activity, protein binding, GO:0061024, GO:0048488, GO:0048488, GO:0030100, GO:0030100, GO:0016192, GO:0002244, membrane organization, synaptic vesicle endocytosis, synaptic vesicle endocytosis, regulation of endocytosis, regulation of endocytosis, vesicle-mediated transport, hematopoietic progenitor cell differentiation, 3 7 3 1 13 10 5 6 11 ENSG00000140025 chr14 89794669 89954777 - EFCAB11 protein_coding 90141 GO:0005515, GO:0005509, protein binding, calcium ion binding, 18 19 16 11 14 7 9 14 13 ENSG00000140030 chr14 88005124 88014811 + GPR65 protein_coding 8477 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0004930, GO:0004930, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0090630, GO:0051496, GO:0051482, GO:0035025, GO:0031532, GO:0010447, GO:0007275, GO:0007189, GO:0007186, GO:0007186, GO:0006955, GO:0006915, activation of GTPase activity, positive regulation of stress fiber assembly, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of Rho protein signal transduction, actin cytoskeleton reorganization, response to acidic pH, multicellular organism development, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, apoptotic process, 2885 2001 4461 430 446 694 617 524 619 ENSG00000140043 chr14 73851844 73886827 + PTGR2 protein_coding This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 145482 GO:0005737, cytoplasm, GO:0047522, GO:0047522, GO:0036132, GO:0008270, GO:0005515, 15-oxoprostaglandin 13-oxidase activity, 15-oxoprostaglandin 13-oxidase activity, 13-prostaglandin reductase activity, zinc ion binding, protein binding, GO:0055114, GO:0006693, GO:0006693, oxidation-reduction process, prostaglandin metabolic process, prostaglandin metabolic process, 4 3 2 13 9 13 20 6 8 ENSG00000140044 chr14 75427716 75474111 + JDP2 protein_coding 122953 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0044877, GO:0005515, GO:0003682, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein-containing complex binding, protein binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045599, GO:0031065, GO:0006357, GO:0000122, negative regulation of fat cell differentiation, positive regulation of histone deacetylation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 626 707 815 331 1011 951 374 759 851 ENSG00000140057 chr14 96392111 96489427 + AK7 protein_coding This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]. 122481 GO:0031514, GO:0005829, GO:0005737, motile cilium, cytosol, cytoplasm, GO:0005524, GO:0004550, GO:0004550, GO:0004127, GO:0004127, GO:0004017, GO:0004017, ATP binding, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, cytidylate kinase activity, cytidylate kinase activity, adenylate kinase activity, adenylate kinase activity, GO:0046940, GO:0030030, GO:0015949, GO:0009142, GO:0009142, GO:0006165, GO:0006165, GO:0006163, nucleoside monophosphate phosphorylation, cell projection organization, nucleobase-containing small molecule interconversion, nucleoside triphosphate biosynthetic process, nucleoside triphosphate biosynthetic process, nucleoside diphosphate phosphorylation, nucleoside diphosphate phosphorylation, purine nucleotide metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000140067 chr14 93918894 93929608 + FAM181A protein_coding 90050 0 0 0 0 0 0 0 0 0 ENSG00000140090 chr14 92322581 92501483 + SLC24A4 protein_coding This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]. 123041 GO:0044214, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005737, spanning component of plasma membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0015293, GO:0008273, GO:0008273, GO:0005262, symporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, calcium channel activity, GO:0098656, GO:0097186, GO:0071805, GO:0070588, GO:0070588, GO:0050896, GO:0035725, GO:0007608, GO:0007608, GO:0006874, GO:0006874, GO:0006811, anion transmembrane transport, amelogenesis, potassium ion transmembrane transport, calcium ion transmembrane transport, calcium ion transmembrane transport, response to stimulus, sodium ion transmembrane transport, sensory perception of smell, sensory perception of smell, cellular calcium ion homeostasis, cellular calcium ion homeostasis, ion transport, 217 156 145 180 205 176 201 120 151 ENSG00000140092 chr14 91869412 91947987 - FBLN5 protein_coding The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]. 10516 GO:0071953, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005615, GO:0005576, GO:0005576, elastic fiber, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular space, extracellular region, extracellular region, GO:0042803, GO:0030023, GO:0008022, GO:0005515, GO:0005509, GO:0005178, protein homodimerization activity, extracellular matrix constituent conferring elasticity, protein C-terminus binding, protein binding, calcium ion binding, integrin binding, GO:2000121, GO:0098867, GO:0048251, GO:0048251, GO:0048251, GO:0046903, GO:0045944, GO:0034394, GO:0033690, GO:0030198, GO:0016525, GO:0007160, GO:0001558, GO:0000122, regulation of removal of superoxide radicals, intramembranous bone growth, elastic fiber assembly, elastic fiber assembly, elastic fiber assembly, secretion, positive regulation of transcription by RNA polymerase II, protein localization to cell surface, positive regulation of osteoblast proliferation, extracellular matrix organization, negative regulation of angiogenesis, cell-matrix adhesion, regulation of cell growth, negative regulation of transcription by RNA polymerase II, 4 4 6 11 5 1 1 5 4 ENSG00000140093 chr14 94280455 94293271 - SERPINA10 protein_coding The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010]. 51156 GO:0070062, GO:0005788, GO:0005615, extracellular exosome, endoplasmic reticulum lumen, extracellular space, GO:0008201, GO:0005515, GO:0004867, heparin binding, protein binding, serine-type endopeptidase inhibitor activity, GO:0060046, GO:0044267, GO:0043687, GO:0010951, GO:0007596, regulation of acrosome reaction, cellular protein metabolic process, post-translational protein modification, negative regulation of endopeptidase activity, blood coagulation, 0 0 0 0 0 0 0 0 0 ENSG00000140104 chr14 104985775 105010482 + CLBA1 protein_coding 122616 GO:0032588, GO:0030121, trans-Golgi network membrane, AP-1 adaptor complex, GO:0030276, clathrin binding, GO:0046907, intracellular transport, 8 16 22 11 14 13 16 12 16 ENSG00000140105 chr14 100333788 100376805 - WARS protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7453 GO:0070062, GO:0032991, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, protein-containing complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0042803, GO:0019904, GO:0019901, GO:0019210, GO:0005524, GO:0005515, GO:0004830, GO:0004830, GO:0004830, protein homodimerization activity, protein domain specific binding, protein kinase binding, kinase inhibitor activity, ATP binding, protein binding, tryptophan-tRNA ligase activity, tryptophan-tRNA ligase activity, tryptophan-tRNA ligase activity, GO:0045765, GO:0031334, GO:0010835, GO:0010628, GO:0008285, GO:0006469, GO:0006436, GO:0006436, GO:0006418, GO:0006412, GO:0001933, GO:0001525, regulation of angiogenesis, positive regulation of protein-containing complex assembly, regulation of protein ADP-ribosylation, positive regulation of gene expression, negative regulation of cell population proliferation, negative regulation of protein kinase activity, tryptophanyl-tRNA aminoacylation, tryptophanyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, translation, negative regulation of protein phosphorylation, angiogenesis, 968 1364 1308 473 669 545 557 662 445 ENSG00000140107 chr14 100323337 100330378 + SLC25A47 protein_coding This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. 283600 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0015227, GO:0005347, acyl carnitine transmembrane transporter activity, ATP transmembrane transporter activity, GO:1902616, GO:0015867, GO:0006865, GO:0006844, acyl carnitine transmembrane transport, ATP transport, amino acid transport, acyl carnitine transport, 1 5 0 0 8 1 4 2 1 ENSG00000140153 chr14 102139503 102224847 + WDR20 protein_coding This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]. 91833 GO:0005654, nucleoplasm, GO:0005515, protein binding, GO:0016579, protein deubiquitination, 335 320 432 271 409 392 232 286 279 ENSG00000140157 chr15 22838641 22868384 + NIPA2 protein_coding This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]. 81614 GO:0016021, GO:0016020, GO:0005886, GO:0005769, integral component of membrane, membrane, plasma membrane, early endosome, GO:0015095, magnesium ion transmembrane transporter activity, GO:1903830, GO:0015693, magnesium ion transmembrane transport, magnesium ion transport, 607 530 653 295 443 372 300 353 360 ENSG00000140199 chr15 34229996 34338060 - SLC12A6 protein_coding This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]. 9990 GO:0045202, GO:0016323, GO:0016021, GO:0005887, GO:0005886, synapse, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0015379, GO:0015379, GO:0008519, potassium:chloride symporter activity, potassium:chloride symporter activity, ammonium transmembrane transporter activity, GO:1990573, GO:1902476, GO:0140157, GO:0071477, GO:0055075, GO:0055064, GO:0007268, GO:0006884, GO:0006811, GO:0006811, GO:0001525, potassium ion import across plasma membrane, chloride transmembrane transport, ammonium import across plasma membrane, cellular hypotonic salinity response, potassium ion homeostasis, chloride ion homeostasis, chemical synaptic transmission, cell volume homeostasis, ion transport, ion transport, angiogenesis, 9747 10523 12425 5338 8918 8137 6533 6455 6497 ENSG00000140254 chr15 45117367 45129938 - DUOXA1 protein_coding Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]. 90527 GO:0016021, GO:0016020, GO:0005886, GO:0005789, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, GO:2000609, GO:0050727, GO:0045666, GO:0042743, GO:0034613, GO:0015031, GO:0010729, GO:0008104, regulation of thyroid hormone generation, regulation of inflammatory response, positive regulation of neuron differentiation, hydrogen peroxide metabolic process, cellular protein localization, protein transport, positive regulation of hydrogen peroxide biosynthetic process, protein localization, 0 0 0 1 0 0 0 0 0 ENSG00000140259 chr15 43804492 43824802 - MFAP1 protein_coding 4236 GO:0071005, GO:0005813, GO:0005684, GO:0005654, GO:0005634, GO:0005576, GO:0001527, U2-type precatalytic spliceosome, centrosome, U2-type spliceosomal complex, nucleoplasm, nucleus, extracellular region, microfibril, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 780 735 825 386 342 342 362 295 265 ENSG00000140262 chr15 56918623 57299281 + TCF12 protein_coding The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. 6938 GO:0090575, GO:0043231, GO:0016607, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, intracellular membrane-bounded organelle, nuclear speck, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0071837, GO:0070888, GO:0046332, GO:0043425, GO:0035497, GO:0008134, GO:0005515, GO:0003700, GO:0001228, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, HMG box domain binding, E-box binding, SMAD binding, bHLH transcription factor binding, cAMP response element binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1902036, GO:0045944, GO:0007517, GO:0006955, GO:0006357, GO:0006357, regulation of hematopoietic stem cell differentiation, positive regulation of transcription by RNA polymerase II, muscle organ development, immune response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 88 65 134 166 46 190 128 63 145 ENSG00000140263 chr15 45023104 45077185 + SORD protein_coding Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]. 6652 GO:0070062, GO:0070062, GO:0031966, GO:0031514, GO:0016020, GO:0005829, GO:0005615, extracellular exosome, extracellular exosome, mitochondrial membrane, motile cilium, membrane, cytosol, extracellular space, GO:0051287, GO:0050255, GO:0046526, GO:0042802, GO:0030246, GO:0008270, GO:0008270, GO:0003939, GO:0003939, GO:0003939, GO:0003939, GO:0000721, NAD binding, ribitol 2-dehydrogenase activity, D-xylulose reductase activity, identical protein binding, carbohydrate binding, zinc ion binding, zinc ion binding, L-iditol 2-dehydrogenase activity, L-iditol 2-dehydrogenase activity, L-iditol 2-dehydrogenase activity, L-iditol 2-dehydrogenase activity, (R,R)-butanediol dehydrogenase activity, GO:0055114, GO:0051164, GO:0051160, GO:0046688, GO:0046686, GO:0046370, GO:0046370, GO:0042493, GO:0031667, GO:0030317, GO:0030317, GO:0019640, GO:0009725, GO:0006970, GO:0006062, GO:0006062, GO:0006062, GO:0006006, oxidation-reduction process, L-xylitol metabolic process, L-xylitol catabolic process, response to copper ion, response to cadmium ion, fructose biosynthetic process, fructose biosynthetic process, response to drug, response to nutrient levels, flagellated sperm motility, flagellated sperm motility, glucuronate catabolic process to xylulose 5-phosphate, response to hormone, response to osmotic stress, sorbitol catabolic process, sorbitol catabolic process, sorbitol catabolic process, glucose metabolic process, 104 138 222 40 61 54 37 46 34 ENSG00000140264 chr15 43777087 43802589 + SERF2 protein_coding 10169 GO:0005829, GO:0005634, cytosol, nucleus, GO:0003674, molecular_function, GO:0031648, protein destabilization, 2156 2151 2460 2773 3239 3120 2731 2715 2582 ENSG00000140265 chr15 43358172 43371025 - ZSCAN29 protein_coding 146050 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 164 197 230 99 147 163 108 125 125 ENSG00000140274 chr15 45114321 45118421 + DUOXA2 protein_coding This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]. 405753 GO:0045177, GO:0031252, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005789, GO:0005783, apical part of cell, cell leading edge, integral component of membrane, membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:2000609, GO:2000147, GO:0051604, GO:0050727, GO:0042743, GO:0034613, GO:0015031, GO:0010729, GO:0010729, GO:0008104, regulation of thyroid hormone generation, positive regulation of cell motility, protein maturation, regulation of inflammatory response, hydrogen peroxide metabolic process, cellular protein localization, protein transport, positive regulation of hydrogen peroxide biosynthetic process, positive regulation of hydrogen peroxide biosynthetic process, protein localization, 0 0 0 1 0 0 0 0 0 ENSG00000140279 chr15 45092650 45114344 - DUOX2 protein_coding The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]. 50506 GO:0070062, GO:0045177, GO:0043020, GO:0031252, GO:0030054, GO:0016324, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005783, extracellular exosome, apical part of cell, NADPH oxidase complex, cell leading edge, cell junction, apical plasma membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, GO:0020037, GO:0016175, GO:0016174, GO:0016174, GO:0005515, GO:0005509, GO:0004601, heme binding, superoxide-generating NAD(P)H oxidase activity, NAD(P)H oxidase H2O2-forming activity, NAD(P)H oxidase H2O2-forming activity, protein binding, calcium ion binding, peroxidase activity, GO:2000147, GO:0098869, GO:0090303, GO:0055114, GO:0055114, GO:0051591, GO:0051591, GO:0050665, GO:0042744, GO:0042554, GO:0042554, GO:0042446, GO:0042335, GO:0019221, GO:0019221, GO:0009615, GO:0006979, GO:0006952, GO:0006590, GO:0006590, positive regulation of cell motility, cellular oxidant detoxification, positive regulation of wound healing, oxidation-reduction process, oxidation-reduction process, response to cAMP, response to cAMP, hydrogen peroxide biosynthetic process, hydrogen peroxide catabolic process, superoxide anion generation, superoxide anion generation, hormone biosynthetic process, cuticle development, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, response to virus, response to oxidative stress, defense response, thyroid hormone generation, thyroid hormone generation, 0 2 1 0 0 0 0 0 1 ENSG00000140280 chr15 51723011 51751585 - LYSMD2 protein_coding 256586 586 393 712 175 341 172 218 307 208 ENSG00000140284 chr15 50182196 50236395 + SLC27A2 protein_coding The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]. 11001 GO:0070062, GO:0035579, GO:0030176, GO:0030176, GO:0005886, GO:0005829, GO:0005789, GO:0005789, GO:0005788, GO:0005788, GO:0005783, GO:0005779, GO:0005779, GO:0005778, GO:0005778, extracellular exosome, specific granule membrane, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, GO:0102391, GO:0070251, GO:0070251, GO:0070251, GO:0050197, GO:0050197, GO:0050197, GO:0047747, GO:0047676, GO:0031957, GO:0031957, GO:0019899, GO:0015245, GO:0005524, GO:0005324, GO:0005324, GO:0004467, GO:0004467, GO:0004467, GO:0003996, decanoate-CoA ligase activity, pristanate-CoA ligase activity, pristanate-CoA ligase activity, pristanate-CoA ligase activity, phytanate-CoA ligase activity, phytanate-CoA ligase activity, phytanate-CoA ligase activity, cholate-CoA ligase activity, arachidonate-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, enzyme binding, fatty acid transmembrane transporter activity, ATP binding, long-chain fatty acid transporter activity, long-chain fatty acid transporter activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, acyl-CoA ligase activity, GO:0097089, GO:0044539, GO:0044539, GO:0043312, GO:0042760, GO:0006699, GO:0006699, GO:0006699, GO:0006635, GO:0006625, GO:0001676, GO:0001561, GO:0001561, methyl-branched fatty acid metabolic process, long-chain fatty acid import into cell, long-chain fatty acid import into cell, neutrophil degranulation, very long-chain fatty acid catabolic process, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, fatty acid beta-oxidation, protein targeting to peroxisome, long-chain fatty acid metabolic process, fatty acid alpha-oxidation, fatty acid alpha-oxidation, 0 1 2 5 2 6 5 1 7 ENSG00000140285 chr15 49423096 49488775 + FGF7 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]. 2252 GO:0005794, GO:0005737, GO:0005615, GO:0005576, Golgi apparatus, cytoplasm, extracellular space, extracellular region, GO:0042056, GO:0008201, GO:0008083, GO:0005515, GO:0005111, GO:0005104, chemoattractant activity, heparin binding, growth factor activity, protein binding, type 2 fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:0061033, GO:0060665, GO:0060501, GO:0060445, GO:0051897, GO:0051781, GO:0051549, GO:0050918, GO:0050918, GO:0050731, GO:0050731, GO:0050679, GO:0050679, GO:0045893, GO:0034394, GO:0031532, GO:0031069, GO:0030334, GO:0030324, GO:0030154, GO:0010838, GO:0010628, GO:0010463, GO:0009887, GO:0009611, GO:0008544, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0007165, GO:0001934, GO:0000165, secretion by lung epithelial cell involved in lung growth, regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling, positive regulation of epithelial cell proliferation involved in lung morphogenesis, branching involved in salivary gland morphogenesis, positive regulation of protein kinase B signaling, positive regulation of cell division, positive regulation of keratinocyte migration, positive chemotaxis, positive chemotaxis, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of epithelial cell proliferation, positive regulation of epithelial cell proliferation, positive regulation of transcription, DNA-templated, protein localization to cell surface, actin cytoskeleton reorganization, hair follicle morphogenesis, regulation of cell migration, lung development, cell differentiation, positive regulation of keratinocyte proliferation, positive regulation of gene expression, mesenchymal cell proliferation, animal organ morphogenesis, response to wounding, epidermis development, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, signal transduction, positive regulation of protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000140287 chr15 50241947 50266026 - HDC protein_coding This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]. 3067 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0030170, GO:0016831, GO:0005515, GO:0004398, GO:0004398, pyridoxal phosphate binding, carboxy-lyase activity, protein binding, histidine decarboxylase activity, histidine decarboxylase activity, GO:0042423, GO:0006548, GO:0006548, GO:0006547, GO:0001694, GO:0001694, GO:0001694, GO:0001694, catecholamine biosynthetic process, histidine catabolic process, histidine catabolic process, histidine metabolic process, histamine biosynthetic process, histamine biosynthetic process, histamine biosynthetic process, histamine biosynthetic process, 16 40 16 66 40 22 29 33 20 ENSG00000140297 chr15 59594875 59640239 + GCNT3 protein_coding This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009]. 9245 GO:0070062, GO:0016021, GO:0016020, GO:0000139, extracellular exosome, integral component of membrane, membrane, Golgi membrane, GO:0047225, GO:0008109, GO:0003829, acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity, N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity, GO:0060993, GO:0050892, GO:0048729, GO:0016266, GO:0006493, GO:0005975, GO:0002426, kidney morphogenesis, intestinal absorption, tissue morphogenesis, O-glycan processing, protein O-linked glycosylation, carbohydrate metabolic process, immunoglobulin production in mucosal tissue, 0 0 0 0 0 2 2 0 0 ENSG00000140299 chr15 59659146 59689534 - BNIP2 protein_coding This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 663 GO:0048471, GO:0043231, GO:0005829, GO:0005737, GO:0005737, GO:0005635, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, cytosol, cytoplasm, cytoplasm, nuclear envelope, GO:0005515, GO:0005509, GO:0005096, GO:0004309, protein binding, calcium ion binding, GTPase activator activity, exopolyphosphatase activity, GO:0051149, GO:0043547, GO:0043066, GO:0006915, GO:0006915, GO:0006798, positive regulation of muscle cell differentiation, positive regulation of GTPase activity, negative regulation of apoptotic process, apoptotic process, apoptotic process, polyphosphate catabolic process, 2335 2076 2565 1950 2238 2541 2255 1743 1868 ENSG00000140307 chr15 59638062 59657541 - GTF2A2 protein_coding Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008]. 2958 GO:0030054, GO:0005672, GO:0005672, GO:0005669, GO:0005654, GO:0005654, cell junction, transcription factor TFIIA complex, transcription factor TFIIA complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, GO:0046982, GO:0042803, GO:0017025, GO:0017025, GO:0016251, GO:0016251, GO:0008134, GO:0005515, GO:0001103, protein heterodimerization activity, protein homodimerization activity, TBP-class protein binding, TBP-class protein binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, transcription factor binding, protein binding, RNA polymerase II repressing transcription factor binding, GO:0051123, GO:0051123, GO:0045944, GO:0042795, GO:0016032, GO:0006367, GO:0006367, GO:0006366, GO:0006366, RNA polymerase II preinitiation complex assembly, RNA polymerase II preinitiation complex assembly, positive regulation of transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, viral process, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, 118 90 80 63 103 102 75 73 85 ENSG00000140319 chr15 40035739 40039188 - SRP14 protein_coding 6727 GO:1904813, GO:0034774, GO:0005829, GO:0005786, GO:0005786, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, secretory granule lumen, cytosol, signal recognition particle, endoplasmic reticulum targeting, signal recognition particle, endoplasmic reticulum targeting, cytoplasm, nucleus, extracellular region, GO:0030942, GO:0008312, GO:0005515, GO:0003723, endoplasmic reticulum signal peptide binding, 7S RNA binding, protein binding, RNA binding, GO:0045047, GO:0045047, GO:0043312, GO:0006614, GO:0006613, protein targeting to ER, protein targeting to ER, neutrophil degranulation, SRP-dependent cotranslational protein targeting to membrane, cotranslational protein targeting to membrane, 1149 1026 1288 494 771 821 552 801 702 ENSG00000140320 chr15 40439721 40468242 + BAHD1 protein_coding 22893 GO:0005694, GO:0005677, GO:0005654, chromosome, chromatin silencing complex, nucleoplasm, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0045892, GO:0031507, negative regulation of transcription, DNA-templated, heterochromatin assembly, 216 197 229 143 200 155 126 108 172 ENSG00000140323 chr15 40358235 40378639 + DISP2 protein_coding This gene is one of two human homologs of a segment-polarity gene known as dispatched identified in Drosophila. The product of this gene may be required for normal Hedgehog (Hh) signaling during embryonic pattern formation. [provided by RefSeq, Jan 2017]. 85455 GO:0016021, GO:0005886, GO:0005575, integral component of membrane, plasma membrane, cellular_component, GO:0003674, molecular_function, GO:0007224, smoothened signaling pathway, 4 7 3 1 4 1 1 8 2 ENSG00000140326 chr15 42723544 42737128 - CDAN1 protein_coding This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]. 146059 GO:0016021, GO:0012505, GO:0005886, GO:0005829, GO:0005737, GO:0005634, integral component of membrane, endomembrane system, plasma membrane, cytosol, cytoplasm, nucleus, GO:0005515, protein binding, GO:0031497, GO:0008156, GO:0008104, GO:0006325, chromatin assembly, negative regulation of DNA replication, protein localization, chromatin organization, 55 67 77 83 81 89 78 73 71 ENSG00000140332 chr15 70047790 70098176 - TLE3 protein_coding This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]. 7090 GO:1990907, GO:0005667, GO:0005654, GO:0005654, GO:0005634, beta-catenin-TCF complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, GO:0070491, GO:0005515, GO:0003714, repressing transcription factor binding, protein binding, transcription corepressor activity, GO:1904837, GO:1903507, GO:0120163, GO:0090090, GO:0016055, GO:0009887, GO:0007165, GO:0006355, beta-catenin-TCF complex assembly, negative regulation of nucleic acid-templated transcription, negative regulation of cold-induced thermogenesis, negative regulation of canonical Wnt signaling pathway, Wnt signaling pathway, animal organ morphogenesis, signal transduction, regulation of transcription, DNA-templated, 8550 9387 11173 5596 8579 8459 6031 6294 7200 ENSG00000140350 chr15 68778535 68820897 - ANP32A protein_coding 8125 GO:0048471, GO:0048471, GO:0005783, GO:0005737, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, perinuclear region of cytoplasm, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0005515, GO:0003723, histone binding, protein binding, RNA binding, GO:0043488, GO:0042981, GO:0035556, GO:0006913, GO:0006913, GO:0006913, regulation of mRNA stability, regulation of apoptotic process, intracellular signal transduction, nucleocytoplasmic transport, nucleocytoplasmic transport, nucleocytoplasmic transport, 4289 3240 4879 2253 3464 3653 2691 2890 2893 ENSG00000140365 chr15 75335891 75343224 + COMMD4 protein_coding 54939 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, 37 53 42 51 85 90 65 79 80 ENSG00000140367 chr15 75843285 75901078 + UBE2Q2 protein_coding 92912 GO:0005829, GO:0005634, cytosol, nucleus, GO:0061631, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0070936, GO:0070936, GO:0016567, GO:0000209, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein ubiquitination, protein polyubiquitination, 49 47 64 80 46 103 92 35 85 ENSG00000140368 chr15 76993359 77037332 + PSTPIP1 protein_coding This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]. 9051 GO:0048471, GO:0032154, GO:0030027, GO:0016020, GO:0005886, GO:0005884, GO:0005856, GO:0005829, GO:0005737, GO:0001931, perinuclear region of cytoplasm, cleavage furrow, lamellipodium, membrane, plasma membrane, actin filament, cytoskeleton, cytosol, cytoplasm, uropod, GO:0051015, GO:0042802, GO:0008092, GO:0005515, actin filament binding, identical protein binding, cytoskeletal protein binding, protein binding, GO:0045087, GO:0030041, GO:0007165, GO:0007155, GO:0006954, GO:0006897, innate immune response, actin filament polymerization, signal transduction, cell adhesion, inflammatory response, endocytosis, 1462 1855 2029 1195 2392 2073 1267 1830 1904 ENSG00000140374 chr15 76215355 76311472 - ETFA protein_coding ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2108 GO:0005759, GO:0005739, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0050660, GO:0050660, GO:0016491, GO:0009055, GO:0009055, GO:0005515, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, oxidoreductase activity, electron transfer activity, electron transfer activity, protein binding, GO:0033539, GO:0033539, GO:0022904, fatty acid beta-oxidation using acyl-CoA dehydrogenase, fatty acid beta-oxidation using acyl-CoA dehydrogenase, respiratory electron transport chain, 153 92 112 176 132 125 164 70 113 ENSG00000140379 chr15 79960889 79971446 - BCL2A1 protein_coding This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 597 GO:0005741, mitochondrial outer membrane, GO:0051400, GO:0046982, GO:0044877, GO:0042803, GO:0005515, BH domain binding, protein heterodimerization activity, protein-containing complex binding, protein homodimerization activity, protein binding, GO:0097192, GO:0043066, GO:0021987, GO:0008630, GO:0007568, extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of apoptotic process, cerebral cortex development, intrinsic apoptotic signaling pathway in response to DNA damage, aging, 5678 4365 9194 3325 4508 5774 5146 5388 6151 ENSG00000140382 chr15 77420412 77485607 + HMG20A protein_coding 10363 GO:0005634, GO:0005634, nucleus, nucleus, GO:0042802, GO:0005515, GO:0003677, identical protein binding, protein binding, DNA binding, GO:0045665, GO:0033234, GO:0010468, GO:0006355, GO:0006325, GO:0000122, negative regulation of neuron differentiation, negative regulation of protein sumoylation, regulation of gene expression, regulation of transcription, DNA-templated, chromatin organization, negative regulation of transcription by RNA polymerase II, 54 72 89 88 74 103 59 42 65 ENSG00000140386 chr15 76347904 76905444 - SCAPER protein_coding 49855 GO:0005829, GO:0005783, GO:0005654, cytosol, endoplasmic reticulum, nucleoplasm, GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, 130 143 152 130 145 147 116 105 95 ENSG00000140391 chr15 77041404 77083984 - TSPAN3 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009]. 10099 GO:0070062, GO:0005887, extracellular exosome, integral component of plasma membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 102 294 87 376 763 376 455 476 259 ENSG00000140395 chr15 78277835 78299794 - WDR61 protein_coding WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]. 80349 GO:0055087, GO:0035327, GO:0016593, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, Ski complex, transcriptionally active chromatin, Cdc73/Paf1 complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:2001162, GO:0080182, GO:0051571, GO:0045638, GO:0043928, GO:0016567, GO:0016055, GO:0006368, GO:0006368, GO:0006366, positive regulation of histone H3-K79 methylation, histone H3-K4 trimethylation, positive regulation of histone H3-K4 methylation, negative regulation of myeloid cell differentiation, exonucleolytic catabolism of deadenylated mRNA, protein ubiquitination, Wnt signaling pathway, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 26 30 41 141 165 181 89 49 43 ENSG00000140396 chr8 70109762 70403805 - NCOA2 protein_coding The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 10499 GO:0032991, GO:0016604, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, protein-containing complex, nuclear body, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0046983, GO:0035257, GO:0030375, GO:0030374, GO:0030374, GO:0019904, GO:0017162, GO:0016922, GO:0016922, GO:0005515, GO:0003713, GO:0003713, GO:0003682, GO:0001162, GO:0000978, protein dimerization activity, nuclear hormone receptor binding, thyroid hormone receptor coactivator activity, nuclear receptor coactivator activity, nuclear receptor coactivator activity, protein domain specific binding, aryl hydrocarbon receptor binding, nuclear receptor binding, nuclear receptor binding, protein binding, transcription coactivator activity, transcription coactivator activity, chromatin binding, RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904017, GO:0045944, GO:0045475, GO:0032922, GO:0032870, GO:0032570, GO:0019216, GO:0015721, GO:0010906, GO:0006355, GO:0000122, cellular response to Thyroglobulin triiodothyronine, positive regulation of transcription by RNA polymerase II, locomotor rhythm, circadian regulation of gene expression, cellular response to hormone stimulus, response to progesterone, regulation of lipid metabolic process, bile acid and bile salt transport, regulation of glucose metabolic process, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 4230 4281 5187 1698 2922 2560 2190 1985 2211 ENSG00000140398 chr15 75346955 75357114 + NEIL1 protein_coding This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 79661 GO:0005815, GO:0005737, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, microtubule organizing center, cytoplasm, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0140078, GO:0019104, GO:0019104, GO:0016798, GO:0008270, GO:0008022, GO:0003906, GO:0003906, GO:0003684, class I DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA N-glycosylase activity, DNA N-glycosylase activity, hydrolase activity, acting on glycosyl bonds, zinc ion binding, protein C-terminus binding, DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, damaged DNA binding, GO:0045008, GO:0032074, GO:0006979, GO:0006289, GO:0006284, GO:0006284, depyrimidination, negative regulation of nuclease activity, response to oxidative stress, nucleotide-excision repair, base-excision repair, base-excision repair, 80 104 133 123 182 247 97 108 136 ENSG00000140400 chr15 75355207 75368630 - MAN2C1 protein_coding 4123 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0046872, GO:0030246, GO:0004559, metal ion binding, carbohydrate binding, alpha-mannosidase activity, GO:0009313, GO:0009313, GO:0006013, oligosaccharide catabolic process, oligosaccharide catabolic process, mannose metabolic process, 251 367 525 457 470 747 424 300 524 ENSG00000140403 chr15 78264086 78282196 + DNAJA4 protein_coding 55466 GO:0016020, GO:0005829, GO:0005829, GO:0005829, membrane, cytosol, cytosol, cytosol, GO:0051087, GO:0051082, GO:0046872, GO:0031072, GO:0005524, GO:0005515, chaperone binding, unfolded protein binding, metal ion binding, heat shock protein binding, ATP binding, protein binding, GO:0090084, GO:0042026, GO:0010628, GO:0010596, GO:0009408, negative regulation of inclusion body assembly, protein refolding, positive regulation of gene expression, negative regulation of endothelial cell migration, response to heat, 106 127 345 1342 1086 849 570 248 240 ENSG00000140406 chr15 81000944 81005788 + TLNRD1 protein_coding This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016]. 59274 GO:0001725, stress fiber, GO:0042802, GO:0005515, GO:0003779, GO:0003779, identical protein binding, protein binding, actin binding, actin binding, 330 292 340 112 143 164 128 118 144 ENSG00000140416 chr15 63042632 63071915 + TPM1 protein_coding This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]. 7168 GO:0032587, GO:0032059, GO:0030017, GO:0015629, GO:0005884, GO:0005862, GO:0005856, GO:0005829, GO:0005829, GO:0001725, ruffle membrane, bleb, sarcomere, actin cytoskeleton, actin filament, muscle thin filament tropomyosin, cytoskeleton, cytosol, cytosol, stress fiber, GO:0051015, GO:0051015, GO:0046982, GO:0042803, GO:0042802, GO:0008307, GO:0008092, GO:0005515, GO:0005200, GO:0003779, actin filament binding, actin filament binding, protein heterodimerization activity, protein homodimerization activity, identical protein binding, structural constituent of muscle, cytoskeletal protein binding, protein binding, structural constituent of cytoskeleton, actin binding, GO:1904753, GO:1904706, GO:0060048, GO:0060048, GO:0055010, GO:0051496, GO:0045785, GO:0045214, GO:0042060, GO:0034614, GO:0032781, GO:0031529, GO:0030336, GO:0030049, GO:0030049, GO:0008360, GO:0008016, GO:0007015, GO:0007010, GO:0006937, GO:0006936, GO:0006936, GO:0003065, GO:0001701, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, cardiac muscle contraction, cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, positive regulation of stress fiber assembly, positive regulation of cell adhesion, sarcomere organization, wound healing, cellular response to reactive oxygen species, positive regulation of ATPase activity, ruffle organization, negative regulation of cell migration, muscle filament sliding, muscle filament sliding, regulation of cell shape, regulation of heart contraction, actin filament organization, cytoskeleton organization, regulation of muscle contraction, muscle contraction, muscle contraction, positive regulation of heart rate by epinephrine, in utero embryonic development, 26 19 36 48 33 54 35 45 31 ENSG00000140443 chr15 98648539 98964530 + IGF1R protein_coding This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]. 3480 GO:1902911, GO:0043235, GO:0043235, GO:0043231, GO:0035867, GO:0030424, GO:0016020, GO:0005899, GO:0005887, GO:0005887, GO:0005886, GO:0005886, protein kinase complex, receptor complex, receptor complex, intracellular membrane-bounded organelle, alphav-beta3 integrin-IGF-1-IGF1R complex, axon, membrane, insulin receptor complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0140318, GO:0043560, GO:0043560, GO:0043559, GO:0043548, GO:0042802, GO:0031994, GO:0031994, GO:0005524, GO:0005520, GO:0005515, GO:0005158, GO:0005010, GO:0005009, GO:0004714, GO:0004713, GO:0004713, GO:0004713, protein transporter activity, insulin receptor substrate binding, insulin receptor substrate binding, insulin binding, phosphatidylinositol 3-kinase binding, identical protein binding, insulin-like growth factor I binding, insulin-like growth factor I binding, ATP binding, insulin-like growth factor binding, protein binding, insulin receptor binding, insulin-like growth factor-activated receptor activity, insulin-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:1904646, GO:0120162, GO:0097242, GO:0097062, GO:0071333, GO:0051897, GO:0051389, GO:0048015, GO:0048009, GO:0048009, GO:0046777, GO:0046328, GO:0046328, GO:0045056, GO:0043410, GO:0043243, GO:0043066, GO:0042593, GO:0038083, GO:0033674, GO:0030335, GO:0016032, GO:0014068, GO:0014065, GO:0008286, GO:0008284, GO:0007275, GO:0007169, GO:0007165, GO:0006955, cellular response to amyloid-beta, positive regulation of cold-induced thermogenesis, amyloid-beta clearance, dendritic spine maintenance, cellular response to glucose stimulus, positive regulation of protein kinase B signaling, inactivation of MAPKK activity, phosphatidylinositol-mediated signaling, insulin-like growth factor receptor signaling pathway, insulin-like growth factor receptor signaling pathway, protein autophosphorylation, regulation of JNK cascade, regulation of JNK cascade, transcytosis, positive regulation of MAPK cascade, positive regulation of protein-containing complex disassembly, negative regulation of apoptotic process, glucose homeostasis, peptidyl-tyrosine autophosphorylation, positive regulation of kinase activity, positive regulation of cell migration, viral process, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, insulin receptor signaling pathway, positive regulation of cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, immune response, 3453 2759 4167 2397 2484 3022 2715 1792 2642 ENSG00000140450 chr15 97960698 97973838 + ARRDC4 protein_coding 91947 GO:1903561, GO:0043231, GO:0005886, GO:0005886, GO:0005769, GO:0005768, GO:0005737, extracellular vesicle, intracellular membrane-bounded organelle, plasma membrane, plasma membrane, early endosome, endosome, cytoplasm, GO:1990756, GO:1990756, GO:0005515, ubiquitin ligase-substrate adaptor activity, ubiquitin ligase-substrate adaptor activity, protein binding, GO:0140112, GO:0051443, GO:0016567, GO:0015031, GO:0015031, extracellular vesicle biogenesis, positive regulation of ubiquitin-protein transferase activity, protein ubiquitination, protein transport, protein transport, 386 515 1666 42 143 328 58 133 313 ENSG00000140451 chr15 64815632 64825668 - PIF1 protein_coding This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]. 80119 GO:0005739, GO:0005657, GO:0000781, mitochondrion, replication fork, chromosome, telomeric region, GO:0051880, GO:0043139, GO:0042162, GO:0033678, GO:0017116, GO:0010521, GO:0005524, GO:0000287, G-quadruplex DNA binding, 5'-3' DNA helicase activity, telomeric DNA binding, 5'-3' DNA/RNA helicase activity, single-stranded DNA helicase activity, telomerase inhibitor activity, ATP binding, magnesium ion binding, GO:0051974, GO:0032508, GO:0032211, GO:0032204, GO:0006310, GO:0006281, GO:0006260, GO:0000723, GO:0000002, negative regulation of telomerase activity, DNA duplex unwinding, negative regulation of telomere maintenance via telomerase, regulation of telomere maintenance, DNA recombination, DNA repair, DNA replication, telomere maintenance, mitochondrial genome maintenance, 1 0 0 4 1 7 6 1 4 ENSG00000140455 chr15 63504511 63594640 + USP3 protein_coding 9960 GO:0090543, GO:0036464, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, Flemming body, cytoplasmic ribonucleoprotein granule, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990841, GO:0042393, GO:0008270, GO:0008234, GO:0004843, GO:0000978, promoter-specific chromatin binding, histone binding, zinc ion binding, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0031647, GO:0016579, GO:0016578, GO:0016578, GO:0006511, GO:0006281, GO:0000278, GO:0000122, regulation of protein stability, protein deubiquitination, histone deubiquitination, histone deubiquitination, ubiquitin-dependent protein catabolic process, DNA repair, mitotic cell cycle, negative regulation of transcription by RNA polymerase II, 1404 1532 2153 1472 1998 2216 1538 1560 1862 ENSG00000140459 chr15 74337759 74367740 - CYP11A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]. 1583 GO:0005759, GO:0005743, GO:0005743, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0020037, GO:0008386, GO:0008386, GO:0008386, GO:0008386, GO:0005515, GO:0005506, heme binding, cholesterol monooxygenase (side-chain-cleaving) activity, cholesterol monooxygenase (side-chain-cleaving) activity, cholesterol monooxygenase (side-chain-cleaving) activity, cholesterol monooxygenase (side-chain-cleaving) activity, protein binding, iron ion binding, GO:0071375, GO:0055114, GO:0042359, GO:0034650, GO:0016125, GO:0008203, GO:0008203, GO:0008203, GO:0008203, GO:0008203, GO:0006704, GO:0006700, GO:0006700, GO:0006700, cellular response to peptide hormone stimulus, oxidation-reduction process, vitamin D metabolic process, cortisol metabolic process, sterol metabolic process, cholesterol metabolic process, cholesterol metabolic process, cholesterol metabolic process, cholesterol metabolic process, cholesterol metabolic process, glucocorticoid biosynthetic process, C21-steroid hormone biosynthetic process, C21-steroid hormone biosynthetic process, C21-steroid hormone biosynthetic process, 0 0 1 0 0 0 0 0 0 ENSG00000140463 chr15 72686179 72738476 + BBS4 protein_coding This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 585 GO:0097730, GO:0060170, GO:0036064, GO:0035869, GO:0034464, GO:0034451, GO:0032391, GO:0031514, GO:0005929, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005634, GO:0001917, GO:0001750, GO:0000242, non-motile cilium, ciliary membrane, ciliary basal body, ciliary transition zone, BBSome, centriolar satellite, photoreceptor connecting cilium, motile cilium, cilium, cytosol, cytosol, centriole, centrosome, nucleus, photoreceptor inner segment, photoreceptor outer segment, pericentriolar material, GO:0048487, GO:0043014, GO:0034452, GO:0030674, GO:0005515, GO:0001103, beta-tubulin binding, alpha-tubulin binding, dynactin binding, protein-macromolecule adaptor activity, protein binding, RNA polymerase II repressing transcription factor binding, GO:1905515, GO:1903546, GO:1902855, GO:0071539, GO:0061512, GO:0060613, GO:0060324, GO:0060296, GO:0060271, GO:0051492, GO:0051457, GO:0050893, GO:0048854, GO:0046907, GO:0046548, GO:0045724, GO:0045494, GO:0045444, GO:0040018, GO:0038108, GO:0035845, GO:0035176, GO:0034454, GO:0034260, GO:0033365, GO:0032465, GO:0032402, GO:0030837, GO:0030534, GO:0021987, GO:0021766, GO:0021756, GO:0021591, GO:0019216, GO:0016358, GO:0015031, GO:0010629, GO:0007608, GO:0007601, GO:0007286, GO:0007098, GO:0003085, GO:0001947, GO:0001895, GO:0001843, GO:0001764, GO:0000281, GO:0000226, non-motile cilium assembly, protein localization to photoreceptor outer segment, regulation of non-motile cilium assembly, protein localization to centrosome, protein localization to cilium, fat pad development, face development, regulation of cilium beat frequency involved in ciliary motility, cilium assembly, regulation of stress fiber assembly, maintenance of protein location in nucleus, sensory processing, brain morphogenesis, intracellular transport, retinal rod cell development, positive regulation of cilium assembly, photoreceptor cell maintenance, fat cell differentiation, positive regulation of multicellular organism growth, negative regulation of appetite by leptin-mediated signaling pathway, photoreceptor cell outer segment organization, social behavior, microtubule anchoring at centrosome, negative regulation of GTPase activity, protein localization to organelle, regulation of cytokinesis, melanosome transport, negative regulation of actin filament polymerization, adult behavior, cerebral cortex development, hippocampus development, striatum development, ventricular system development, regulation of lipid metabolic process, dendrite development, protein transport, negative regulation of gene expression, sensory perception of smell, visual perception, spermatid development, centrosome cycle, negative regulation of systemic arterial blood pressure, heart looping, retina homeostasis, neural tube closure, neuron migration, mitotic cytokinesis, microtubule cytoskeleton organization, 64 77 104 89 92 113 76 107 75 ENSG00000140464 chr15 73994673 74047812 + PML protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 5371 GO:0042406, GO:0031901, GO:0016605, GO:0016605, GO:0016605, GO:0016605, GO:0016363, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000792, GO:0000785, GO:0000781, extrinsic component of endoplasmic reticulum membrane, early endosome membrane, PML body, PML body, PML body, PML body, nuclear matrix, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, heterochromatin, chromatin, chromosome, telomeric region, GO:0140037, GO:0046332, GO:0042803, GO:0032183, GO:0031625, GO:0008270, GO:0005515, GO:0004842, GO:0003677, sumo-dependent protein binding, SMAD binding, protein homodimerization activity, SUMO binding, ubiquitin protein ligase binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, DNA binding, GO:2001238, GO:2000779, GO:2000059, GO:1990830, GO:1902187, GO:1901796, GO:0097191, GO:0090398, GO:0071353, GO:0070059, GO:0065003, GO:0060444, GO:0060333, GO:0051607, GO:0051457, GO:0048384, GO:0048146, GO:0045893, GO:0045892, GO:0045165, GO:0045087, GO:0043161, GO:0043153, GO:0042771, GO:0042752, GO:0034097, GO:0032922, GO:0032691, GO:0032469, GO:0032206, GO:0030578, GO:0030578, GO:0030308, GO:0030155, GO:0030099, GO:0016567, GO:0016525, GO:0016032, GO:0010761, GO:0010522, GO:0010332, GO:0009411, GO:0008631, GO:0008630, GO:0008285, GO:0007182, GO:0007179, GO:0007050, GO:0006977, GO:0006919, GO:0006606, GO:0006355, GO:0001932, GO:0001666, positive regulation of extrinsic apoptotic signaling pathway, regulation of double-strand break repair, negative regulation of ubiquitin-dependent protein catabolic process, cellular response to leukemia inhibitory factor, negative regulation of viral release from host cell, regulation of signal transduction by p53 class mediator, extrinsic apoptotic signaling pathway, cellular senescence, cellular response to interleukin-4, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, protein-containing complex assembly, branching involved in mammary gland duct morphogenesis, interferon-gamma-mediated signaling pathway, defense response to virus, maintenance of protein location in nucleus, retinoic acid receptor signaling pathway, positive regulation of fibroblast proliferation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, cell fate commitment, innate immune response, proteasome-mediated ubiquitin-dependent protein catabolic process, entrainment of circadian clock by photoperiod, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, regulation of circadian rhythm, response to cytokine, circadian regulation of gene expression, negative regulation of interleukin-1 beta production, endoplasmic reticulum calcium ion homeostasis, positive regulation of telomere maintenance, PML body organization, PML body organization, negative regulation of cell growth, regulation of cell adhesion, myeloid cell differentiation, protein ubiquitination, negative regulation of angiogenesis, viral process, fibroblast migration, regulation of calcium ion transport into cytosol, response to gamma radiation, response to UV, intrinsic apoptotic signaling pathway in response to oxidative stress, intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of cell population proliferation, common-partner SMAD protein phosphorylation, transforming growth factor beta receptor signaling pathway, cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, activation of cysteine-type endopeptidase activity involved in apoptotic process, protein import into nucleus, regulation of transcription, DNA-templated, regulation of protein phosphorylation, response to hypoxia, 957 1058 1290 601 834 879 815 717 852 ENSG00000140465 chr15 74719542 74725610 - CYP1A1 protein_coding This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]. 1543 GO:0043231, GO:0005789, GO:0005743, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, mitochondrial inner membrane, GO:0106256, GO:0101021, GO:0101020, GO:0070576, GO:0070330, GO:0051879, GO:0032451, GO:0030544, GO:0020037, GO:0019899, GO:0019825, GO:0016711, GO:0016679, GO:0016491, GO:0008391, GO:0005515, GO:0005506, GO:0004497, GO:0004497, hydroperoxy icosatetraenoate dehydratase activity, estrogen 2-hydroxylase activity, estrogen 16-alpha-hydroxylase activity, vitamin D 24-hydroxylase activity, aromatase activity, Hsp90 protein binding, demethylase activity, Hsp70 protein binding, heme binding, enzyme binding, oxygen binding, flavonoid 3'-monooxygenase activity, oxidoreductase activity, acting on diphenols and related substances as donors, oxidoreductase activity, arachidonic acid monooxygenase activity, protein binding, iron ion binding, monooxygenase activity, monooxygenase activity, GO:1900087, GO:0097267, GO:0071407, GO:0071280, GO:0070988, GO:0070365, GO:0060137, GO:0055114, GO:0055093, GO:0050665, GO:0048565, GO:0046685, GO:0046677, GO:0043010, GO:0042904, GO:0042759, GO:0042572, GO:0042572, GO:0042493, GO:0042359, GO:0035902, GO:0033189, GO:0032496, GO:0032094, GO:0019373, GO:0019341, GO:0019216, GO:0017144, GO:0017143, GO:0010041, GO:0009812, GO:0009804, GO:0009692, GO:0009635, GO:0009624, GO:0009615, GO:0009611, GO:0009308, GO:0008283, GO:0008210, GO:0008202, GO:0007568, GO:0006778, GO:0006694, GO:0006631, GO:0002933, GO:0001666, positive regulation of G1/S transition of mitotic cell cycle, omega-hydroxylase P450 pathway, cellular response to organic cyclic compound, cellular response to copper ion, demethylation, hepatocyte differentiation, maternal process involved in parturition, oxidation-reduction process, response to hyperoxia, hydrogen peroxide biosynthetic process, digestive tract development, response to arsenic-containing substance, response to antibiotic, camera-type eye development, 9-cis-retinoic acid biosynthetic process, long-chain fatty acid biosynthetic process, retinol metabolic process, retinol metabolic process, response to drug, vitamin D metabolic process, response to immobilization stress, response to vitamin A, response to lipopolysaccharide, response to food, epoxygenase P450 pathway, dibenzo-p-dioxin catabolic process, regulation of lipid metabolic process, drug metabolic process, insecticide metabolic process, response to iron(III) ion, flavonoid metabolic process, coumarin metabolic process, ethylene metabolic process, response to herbicide, response to nematode, response to virus, response to wounding, amine metabolic process, cell population proliferation, estrogen metabolic process, steroid metabolic process, aging, porphyrin-containing compound metabolic process, steroid biosynthetic process, fatty acid metabolic process, lipid hydroxylation, response to hypoxia, 4 0 1 6 2 5 6 1 9 ENSG00000140470 chr15 99971589 100342005 - ADAMTS17 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]. 170691 GO:0031012, extracellular matrix, GO:0046872, GO:0004222, metal ion binding, metalloendopeptidase activity, GO:0030198, GO:0006508, extracellular matrix organization, proteolysis, 6 6 9 24 2 4 16 1 0 ENSG00000140471 chr15 100559369 100603230 - LINS1 protein_coding The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]. 55180 GO:0050890, cognition, 138 145 174 169 178 172 145 118 132 ENSG00000140474 chr15 74836116 74843346 - ULK3 protein_coding 25989 GO:0097542, GO:0005737, GO:0000407, ciliary tip, cytoplasm, phagophore assembly site, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0090398, GO:0072537, GO:0046777, GO:0046777, GO:0045880, GO:0045879, GO:0007224, GO:0006914, cellular senescence, fibroblast activation, protein autophosphorylation, protein autophosphorylation, positive regulation of smoothened signaling pathway, negative regulation of smoothened signaling pathway, smoothened signaling pathway, autophagy, 46 55 97 99 65 115 126 62 73 ENSG00000140478 chr15 75282835 75295807 + GOLGA6D protein_coding 653643 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 3 0 2 1 3 0 0 0 0 ENSG00000140479 chr15 101297142 101525202 - PCSK6 protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]. 5046 GO:0062023, GO:0062023, GO:0016020, GO:0009986, GO:0009986, GO:0005886, GO:0005796, GO:0005783, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, membrane, cell surface, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum, extracellular space, extracellular space, extracellular region, GO:0048406, GO:0008201, GO:0005515, GO:0004252, GO:0004252, GO:0004175, nerve growth factor binding, heparin binding, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, endopeptidase activity, GO:0070268, GO:0051004, GO:0032940, GO:0032902, GO:0032455, GO:0030510, GO:0016486, GO:0016486, GO:0016485, GO:0016485, GO:0009100, GO:0007368, GO:0007354, cornification, regulation of lipoprotein lipase activity, secretion by cell, nerve growth factor production, nerve growth factor processing, regulation of BMP signaling pathway, peptide hormone processing, peptide hormone processing, protein processing, protein processing, glycoprotein metabolic process, determination of left/right symmetry, zygotic determination of anterior/posterior axis, embryo, 4 2 11 4 9 0 12 0 0 ENSG00000140481 chr15 74202705 74336472 + CCDC33 protein_coding 80125 GO:0005777, peroxisome, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000140488 chr15 72284727 72320129 - CELF6 protein_coding Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]. 60677 GO:1990904, GO:0005737, GO:0005737, GO:0005634, GO:0005634, ribonucleoprotein complex, cytoplasm, cytoplasm, nucleus, nucleus, GO:0003729, GO:0003723, GO:0003723, mRNA binding, RNA binding, RNA binding, GO:0006376, GO:0000381, GO:0000381, mRNA splice site selection, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 0 0 2 2 1 0 3 0 0 ENSG00000140497 chr15 74843730 74873365 - SCAMP2 protein_coding This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 10066 GO:0070062, GO:0055038, GO:0055038, GO:0043231, GO:0032588, GO:0032588, GO:0030133, GO:0016021, GO:0005794, extracellular exosome, recycling endosome membrane, recycling endosome membrane, intracellular membrane-bounded organelle, trans-Golgi network membrane, trans-Golgi network membrane, transport vesicle, integral component of membrane, Golgi apparatus, GO:0005515, protein binding, GO:0015031, GO:0015031, GO:0006892, protein transport, protein transport, post-Golgi vesicle-mediated transport, 568 751 788 317 480 361 328 478 360 ENSG00000140505 chr15 74748844 74756202 + CYP1A2 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]. 1544 GO:0043231, GO:0043231, GO:0005789, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, GO:0106256, GO:0101021, GO:0101020, GO:0070330, GO:0034875, GO:0032451, GO:0020037, GO:0019899, GO:0016712, GO:0016491, GO:0009055, GO:0005515, GO:0005506, GO:0004497, GO:0004497, GO:0004497, hydroperoxy icosatetraenoate dehydratase activity, estrogen 2-hydroxylase activity, estrogen 16-alpha-hydroxylase activity, aromatase activity, caffeine oxidase activity, demethylase activity, heme binding, enzyme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, electron transfer activity, protein binding, iron ion binding, monooxygenase activity, monooxygenase activity, monooxygenase activity, GO:0097267, GO:0071615, GO:0071280, GO:0071276, GO:0070989, GO:0055114, GO:0050665, GO:0046483, GO:0045333, GO:0042759, GO:0042738, GO:0042737, GO:0042572, GO:0042572, GO:0035902, GO:0032787, GO:0032496, GO:0032355, GO:0032259, GO:0030324, GO:0022900, GO:0019373, GO:0018894, GO:0017144, GO:0016098, GO:0010468, GO:0009820, GO:0009791, GO:0009403, GO:0008210, GO:0008203, GO:0006805, GO:0006778, GO:0006706, omega-hydroxylase P450 pathway, oxidative deethylation, cellular response to copper ion, cellular response to cadmium ion, oxidative demethylation, oxidation-reduction process, hydrogen peroxide biosynthetic process, heterocycle metabolic process, cellular respiration, long-chain fatty acid biosynthetic process, exogenous drug catabolic process, drug catabolic process, retinol metabolic process, retinol metabolic process, response to immobilization stress, monocarboxylic acid metabolic process, response to lipopolysaccharide, response to estradiol, methylation, lung development, electron transport chain, epoxygenase P450 pathway, dibenzo-p-dioxin metabolic process, drug metabolic process, monoterpenoid metabolic process, regulation of gene expression, alkaloid metabolic process, post-embryonic development, toxin biosynthetic process, estrogen metabolic process, cholesterol metabolic process, xenobiotic metabolic process, porphyrin-containing compound metabolic process, steroid catabolic process, 0 0 0 0 0 0 0 2 0 ENSG00000140506 chr15 74812716 74825758 + LMAN1L protein_coding This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found in leguminous plants. This lectin is thought to transport newly synthesized glycoproteins from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. [provided by RefSeq, Jan 2017]. 79748 GO:0062023, GO:0033116, GO:0030134, GO:0016021, GO:0005793, GO:0005789, GO:0000139, collagen-containing extracellular matrix, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, integral component of membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, Golgi membrane, GO:0005537, mannose binding, GO:0007030, GO:0007029, GO:0006888, Golgi organization, endoplasmic reticulum organization, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 3 0 0 2 4 0 3 ENSG00000140511 chr15 88877288 88895626 - HAPLN3 protein_coding This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]. 145864 GO:0031012, GO:0005615, extracellular matrix, extracellular space, GO:0005540, hyaluronic acid binding, GO:0007417, GO:0007155, GO:0001501, central nervous system development, cell adhesion, skeletal system development, 41 22 80 123 32 143 104 25 72 ENSG00000140519 chr15 89471398 89496613 - RHCG protein_coding 51458 GO:0070062, GO:0031410, GO:0016324, GO:0016323, GO:0005887, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, cytoplasmic vesicle, apical plasma membrane, basolateral plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0030506, GO:0008519, GO:0008519, GO:0008519, GO:0008519, GO:0005515, identical protein binding, ankyrin binding, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, protein binding, GO:0072488, GO:0070634, GO:0042592, GO:0030855, GO:0015837, GO:0015696, GO:0015696, GO:0006885, GO:0006873, ammonium transmembrane transport, transepithelial ammonium transport, homeostatic process, epithelial cell differentiation, amine transport, ammonium transport, ammonium transport, regulation of pH, cellular ion homeostasis, 0 0 0 0 0 0 0 2 0 ENSG00000140521 chr15 89305198 89334861 - POLG protein_coding Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 5428 GO:0043195, GO:0042645, GO:0032991, GO:0005760, GO:0005739, GO:0005739, terminal bouton, mitochondrial nucleoid, protein-containing complex, gamma DNA polymerase complex, mitochondrion, mitochondrion, GO:0008408, GO:0008408, GO:0008408, GO:0005515, GO:0003887, GO:0003887, GO:0003887, GO:0003682, GO:0003677, GO:0002020, 3'-5' exonuclease activity, 3'-5' exonuclease activity, 3'-5' exonuclease activity, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, chromatin binding, DNA binding, protease binding, GO:0090305, GO:0071897, GO:0071333, GO:0055093, GO:0010332, GO:0009416, GO:0007568, GO:0006287, GO:0006264, GO:0006264, GO:0006261, GO:0006259, nucleic acid phosphodiester bond hydrolysis, DNA biosynthetic process, cellular response to glucose stimulus, response to hyperoxia, response to gamma radiation, response to light stimulus, aging, base-excision repair, gap-filling, mitochondrial DNA replication, mitochondrial DNA replication, DNA-dependent DNA replication, DNA metabolic process, 613 563 778 705 611 695 549 436 532 ENSG00000140522 chr15 89209869 89221751 - RLBP1 protein_coding The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]. 6017 GO:0044297, GO:0005829, GO:0005829, GO:0005813, GO:0005654, cell body, cytosol, cytosol, centrosome, nucleoplasm, GO:1902936, GO:0019841, GO:0016918, GO:0005515, phosphatidylinositol bisphosphate binding, retinol binding, retinal binding, protein binding, GO:0050896, GO:0007601, GO:0006776, GO:0001523, response to stimulus, visual perception, vitamin A metabolic process, retinoid metabolic process, 2 2 2 4 3 5 7 6 0 ENSG00000140525 chr15 89243949 89317261 + FANCI protein_coding The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 55215 GO:0016020, GO:0005829, GO:0005654, GO:0005654, membrane, cytosol, nucleoplasm, nucleoplasm, GO:0070182, GO:0070182, GO:0005515, GO:0003677, DNA polymerase binding, DNA polymerase binding, protein binding, DNA binding, GO:0036297, GO:0031398, GO:0007049, interstrand cross-link repair, positive regulation of protein ubiquitination, cell cycle, 120 116 134 179 196 187 137 116 101 ENSG00000140526 chr15 89087459 89202360 + ABHD2 protein_coding This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]. 11057 GO:0097524, GO:0097524, GO:0036126, GO:0036126, GO:0016021, GO:0001669, sperm plasma membrane, sperm plasma membrane, sperm flagellum, sperm flagellum, integral component of membrane, acrosomal vesicle, GO:0047372, GO:0047372, GO:0042562, GO:0034338, GO:0033878, GO:0008126, GO:0008126, GO:0003707, acylglycerol lipase activity, acylglycerol lipase activity, hormone binding, short-chain carboxylesterase activity, hormone-sensitive lipase activity, acetylesterase activity, acetylesterase activity, steroid hormone receptor activity, GO:0051793, GO:0051792, GO:0048240, GO:0048240, GO:0046464, GO:0046464, GO:0044255, GO:0043401, GO:0043401, GO:0032570, GO:0030336, GO:0009611, GO:0007340, medium-chain fatty acid catabolic process, medium-chain fatty acid biosynthetic process, sperm capacitation, sperm capacitation, acylglycerol catabolic process, acylglycerol catabolic process, cellular lipid metabolic process, steroid hormone mediated signaling pathway, steroid hormone mediated signaling pathway, response to progesterone, negative regulation of cell migration, response to wounding, acrosome reaction, 7705 10675 10481 1692 4431 2715 2248 3568 2122 ENSG00000140527 chr15 89690797 89743638 + WDR93 protein_coding 56964 GO:0005747, mitochondrial respiratory chain complex I, GO:0022900, electron transport chain, 0 0 0 0 0 0 0 0 0 ENSG00000140534 chr15 89575482 89631056 + TICRR protein_coding Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]. 90381 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003682, GO:0003682, protein binding, chromatin binding, chromatin binding, GO:0033314, GO:0033314, GO:0030174, GO:0030174, GO:0010212, GO:0007095, GO:0007093, GO:0006281, GO:0006260, GO:0006260, mitotic DNA replication checkpoint, mitotic DNA replication checkpoint, regulation of DNA-dependent DNA replication initiation, regulation of DNA-dependent DNA replication initiation, response to ionizing radiation, mitotic G2 DNA damage checkpoint, mitotic cell cycle checkpoint, DNA repair, DNA replication, DNA replication, 4 2 4 3 0 2 0 0 0 ENSG00000140538 chr15 87859751 88256768 - NTRK3 protein_coding This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. 4916 GO:0099055, GO:0098978, GO:0043235, GO:0043235, GO:0030424, GO:0005887, GO:0005886, GO:0005737, integral component of postsynaptic membrane, glutamatergic synapse, receptor complex, receptor complex, axon, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0043121, GO:0005524, GO:0005515, GO:0005030, GO:0005030, GO:0005004, GO:0004714, GO:0002039, neurotrophin binding, ATP binding, protein binding, neurotrophin receptor activity, neurotrophin receptor activity, GPI-linked ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, p53 binding, GO:2000251, GO:1990090, GO:0099151, GO:0090630, GO:0090102, GO:0071300, GO:0070374, GO:0070306, GO:0060548, GO:0051965, GO:0051896, GO:0051412, GO:0051388, GO:0050927, GO:0048712, GO:0048691, GO:0048678, GO:0048665, GO:0048013, GO:0045471, GO:0043410, GO:0043065, GO:0042490, GO:0038179, GO:0033674, GO:0033138, GO:0032148, GO:0030335, GO:0022011, GO:0019227, GO:0019056, GO:0018108, GO:0014068, GO:0014068, GO:0010976, GO:0010863, GO:0010628, GO:0008284, GO:0007623, GO:0007507, GO:0007275, GO:0007169, GO:0007169, GO:0001934, GO:0001933, GO:0001764, GO:0000187, positive regulation of actin cytoskeleton reorganization, cellular response to nerve growth factor stimulus, regulation of postsynaptic density assembly, activation of GTPase activity, cochlea development, cellular response to retinoic acid, positive regulation of ERK1 and ERK2 cascade, lens fiber cell differentiation, negative regulation of cell death, positive regulation of synapse assembly, regulation of protein kinase B signaling, response to corticosterone, positive regulation of neurotrophin TRK receptor signaling pathway, positive regulation of positive chemotaxis, negative regulation of astrocyte differentiation, positive regulation of axon extension involved in regeneration, response to axon injury, neuron fate specification, ephrin receptor signaling pathway, response to ethanol, positive regulation of MAPK cascade, positive regulation of apoptotic process, mechanoreceptor differentiation, neurotrophin signaling pathway, positive regulation of kinase activity, positive regulation of peptidyl-serine phosphorylation, activation of protein kinase B activity, positive regulation of cell migration, myelination in peripheral nervous system, neuronal action potential propagation, modulation by virus of host transcription, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, positive regulation of phospholipase C activity, positive regulation of gene expression, positive regulation of cell population proliferation, circadian rhythm, heart development, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, neuron migration, activation of MAPK activity, 0 0 0 0 4 0 0 0 0 ENSG00000140543 chr15 88494440 88546675 - DET1 protein_coding 55070 GO:0080008, GO:0031464, GO:0031461, GO:0005634, GO:0005634, Cul4-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, nucleus, nucleus, GO:1990756, GO:1990756, GO:0044877, GO:0031625, GO:0031625, GO:0005515, ubiquitin ligase-substrate adaptor activity, ubiquitin ligase-substrate adaptor activity, protein-containing complex binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, GO:0065003, GO:0032436, GO:0032436, GO:0016567, GO:0016567, protein-containing complex assembly, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, 2 3 6 4 14 13 9 1 2 ENSG00000140545 chr15 88898683 88913411 - MFGE8 protein_coding This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 4240 GO:1903561, GO:0070062, GO:0062023, GO:0062023, GO:0019897, GO:0016020, GO:0009897, GO:0005788, GO:0005615, GO:0005576, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extrinsic component of plasma membrane, membrane, external side of plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0008429, GO:0005201, GO:0005178, GO:0001786, phosphatidylethanolamine binding, extracellular matrix structural constituent, integrin binding, phosphatidylserine binding, GO:0050766, GO:0044267, GO:0043687, GO:0043277, GO:0007338, GO:0007155, GO:0006911, GO:0006910, GO:0001525, positive regulation of phagocytosis, cellular protein metabolic process, post-translational protein modification, apoptotic cell clearance, single fertilization, cell adhesion, phagocytosis, engulfment, phagocytosis, recognition, angiogenesis, 21 16 31 48 29 43 55 30 17 ENSG00000140548 chr15 90001392 90082206 + ZNF710 protein_coding 374655 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 822 1039 1046 615 886 594 610 727 647 ENSG00000140553 chr15 90930180 90954093 + UNC45A protein_coding This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded protein is thought to be essential for normal cell proliferation, and for the accumulation of myosin during development of muscle cells. [provided by RefSeq, Sep 2018]. 55898 GO:0048471, GO:0016607, GO:0005829, GO:0005794, perinuclear region of cytoplasm, nuclear speck, cytosol, Golgi apparatus, GO:0051879, GO:0045296, GO:0005515, Hsp90 protein binding, cadherin binding, protein binding, GO:0061077, GO:0030154, GO:0007517, chaperone-mediated protein folding, cell differentiation, muscle organ development, 160 233 217 157 171 188 146 141 157 ENSG00000140557 chr15 92393828 92468728 + ST8SIA2 protein_coding The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]. 8128 GO:0055037, GO:0016021, GO:0005769, GO:0000139, recycling endosome, integral component of membrane, early endosome, Golgi membrane, GO:0033691, GO:0003828, GO:0003828, sialic acid binding, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, GO:0097503, GO:0009311, GO:0009311, GO:0007399, GO:0006491, GO:0006491, GO:0006486, GO:0006486, GO:0006486, GO:0006464, GO:0005975, GO:0001574, sialylation, oligosaccharide metabolic process, oligosaccharide metabolic process, nervous system development, N-glycan processing, N-glycan processing, protein glycosylation, protein glycosylation, protein glycosylation, cellular protein modification process, carbohydrate metabolic process, ganglioside biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000140563 chr15 94231538 94483952 + MCTP2 protein_coding 55784 GO:0030672, GO:0016021, GO:0016021, GO:0016020, GO:0005829, GO:0005654, synaptic vesicle membrane, integral component of membrane, integral component of membrane, membrane, cytosol, nucleoplasm, GO:0005544, GO:0005509, GO:0005509, calcium-dependent phospholipid binding, calcium ion binding, calcium ion binding, GO:0046928, GO:0019722, GO:0007275, regulation of neurotransmitter secretion, calcium-mediated signaling, multicellular organism development, 2640 2990 3915 1987 3584 3436 2670 2640 3161 ENSG00000140564 chr15 90868592 90883458 + FURIN protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. Like other members of this convertase family, the product of this gene specifically cleaves substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140, and may play a role in tumor progression. Unlike SARS-CoV and other coronaviruses, the spike protein of SARS-CoV-2 is thought to be uniquely cleaved by this protease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]. 5045 GO:0070062, GO:0045121, GO:0030173, GO:0030140, GO:0016020, GO:0016020, GO:0010008, GO:0009986, GO:0005886, GO:0005802, GO:0005802, GO:0005796, GO:0005783, GO:0005615, GO:0005576, GO:0000139, GO:0000139, extracellular exosome, membrane raft, integral component of Golgi membrane, trans-Golgi network transport vesicle, membrane, membrane, endosome membrane, cell surface, plasma membrane, trans-Golgi network, trans-Golgi network, Golgi lumen, endoplasmic reticulum, extracellular space, extracellular region, Golgi membrane, Golgi membrane, GO:0048406, GO:0046872, GO:0042277, GO:0008233, GO:0005515, GO:0004867, GO:0004252, GO:0004252, GO:0004252, GO:0004252, GO:0004175, GO:0004175, GO:0004175, GO:0002020, nerve growth factor binding, metal ion binding, peptide binding, peptidase activity, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, endopeptidase activity, endopeptidase activity, endopeptidase activity, protease binding, GO:1901394, GO:0090472, GO:0070268, GO:0052548, GO:0051044, GO:0051004, GO:0044267, GO:0043043, GO:0042176, GO:0032940, GO:0032911, GO:0032904, GO:0032902, GO:0032804, GO:0032455, GO:0031638, GO:0030574, GO:0030198, GO:0022617, GO:0019082, GO:0019058, GO:0016486, GO:0016486, GO:0016485, GO:0016485, GO:0016485, GO:0010951, GO:0009966, GO:0007179, GO:0006465, GO:0006465, GO:0001825, positive regulation of transforming growth factor beta1 activation, dibasic protein processing, cornification, regulation of endopeptidase activity, positive regulation of membrane protein ectodomain proteolysis, regulation of lipoprotein lipase activity, cellular protein metabolic process, peptide biosynthetic process, regulation of protein catabolic process, secretion by cell, negative regulation of transforming growth factor beta1 production, negative regulation of nerve growth factor production, nerve growth factor production, negative regulation of low-density lipoprotein particle receptor catabolic process, nerve growth factor processing, zymogen activation, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, viral protein processing, viral life cycle, peptide hormone processing, peptide hormone processing, protein processing, protein processing, protein processing, negative regulation of endopeptidase activity, regulation of signal transduction, transforming growth factor beta receptor signaling pathway, signal peptide processing, signal peptide processing, blastocyst formation, 2155 2727 3082 874 1570 1199 1100 1468 1244 ENSG00000140575 chr15 90388218 90502243 + IQGAP1 protein_coding This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]. 8826 GO:1990904, GO:0070062, GO:0045121, GO:0043005, GO:0036464, GO:0036057, GO:0031234, GO:0030864, GO:0030667, GO:0030496, GO:0030426, GO:0030424, GO:0016328, GO:0015630, GO:0015629, GO:0005925, GO:0005886, GO:0005886, GO:0005884, GO:0005874, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0001726, ribonucleoprotein complex, extracellular exosome, membrane raft, neuron projection, cytoplasmic ribonucleoprotein granule, slit diaphragm, extrinsic component of cytoplasmic side of plasma membrane, cortical actin cytoskeleton, secretory granule membrane, midbody, growth cone, axon, lateral plasma membrane, microtubule cytoskeleton, actin cytoskeleton, focal adhesion, plasma membrane, plasma membrane, actin filament, microtubule, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, ruffle, GO:0060090, GO:0051019, GO:0051015, GO:0045296, GO:0044548, GO:0043539, GO:0031267, GO:0031267, GO:0019904, GO:0019903, GO:0019901, GO:0005547, GO:0005516, GO:0005516, GO:0005515, GO:0005509, GO:0005096, GO:0005095, GO:0005078, molecular adaptor activity, mitogen-activated protein kinase binding, actin filament binding, cadherin binding, S100 protein binding, protein serine/threonine kinase activator activity, small GTPase binding, small GTPase binding, protein domain specific binding, protein phosphatase binding, protein kinase binding, phosphatidylinositol-3,4,5-trisphosphate binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, GTPase activator activity, GTPase inhibitor activity, MAP-kinase scaffold activity, GO:1990776, GO:1990138, GO:1904754, GO:1903829, GO:1900086, GO:1900006, GO:0072015, GO:0071364, GO:0071277, GO:0051894, GO:0048008, GO:0045860, GO:0043547, GO:0043410, GO:0043406, GO:0043312, GO:0036120, GO:0035305, GO:0034260, GO:0032956, GO:0016477, GO:0016032, GO:0010761, GO:0008543, GO:0007346, GO:0007173, GO:0007165, GO:0001817, response to angiotensin, neuron projection extension, positive regulation of vascular associated smooth muscle cell migration, positive regulation of cellular protein localization, positive regulation of peptidyl-tyrosine autophosphorylation, positive regulation of dendrite development, glomerular visceral epithelial cell development, cellular response to epidermal growth factor stimulus, cellular response to calcium ion, positive regulation of focal adhesion assembly, platelet-derived growth factor receptor signaling pathway, positive regulation of protein kinase activity, positive regulation of GTPase activity, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, neutrophil degranulation, cellular response to platelet-derived growth factor stimulus, negative regulation of dephosphorylation, negative regulation of GTPase activity, regulation of actin cytoskeleton organization, cell migration, viral process, fibroblast migration, fibroblast growth factor receptor signaling pathway, regulation of mitotic cell cycle, epidermal growth factor receptor signaling pathway, signal transduction, regulation of cytokine production, 19521 21941 23881 5596 10209 8616 7734 8863 7688 ENSG00000140577 chr15 90529925 90645345 + CRTC3 protein_coding This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 64784 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0008140, GO:0005515, cAMP response element binding protein binding, protein binding, GO:0097009, GO:0051289, GO:0050995, GO:0045944, GO:0043951, GO:0042116, GO:0032793, GO:0016032, energy homeostasis, protein homotetramerization, negative regulation of lipid catabolic process, positive regulation of transcription by RNA polymerase II, negative regulation of cAMP-mediated signaling, macrophage activation, positive regulation of CREB transcription factor activity, viral process, 96 109 162 180 102 216 148 92 130 ENSG00000140598 chr15 82130230 82262763 - EFL1 protein_coding 79631 GO:1990904, GO:0005829, ribonucleoprotein complex, cytosol, GO:0043022, GO:0043022, GO:0005525, GO:0003924, GO:0003924, GO:0003746, ribosome binding, ribosome binding, GTP binding, GTPase activity, GTPase activity, translation elongation factor activity, GO:0046039, GO:0042256, GO:0042256, GO:0006414, GTP metabolic process, mature ribosome assembly, mature ribosome assembly, translational elongation, 23 17 40 47 22 26 51 22 36 ENSG00000140600 chr15 83447228 83618743 + SH3GL3 protein_coding 6457 GO:0099092, GO:0098978, GO:0098793, GO:0031901, GO:0001669, postsynaptic density, intracellular component, glutamatergic synapse, presynapse, early endosome membrane, acrosomal vesicle, GO:0042802, GO:0008289, GO:0008022, GO:0005515, identical protein binding, lipid binding, protein C-terminus binding, protein binding, GO:1900186, GO:0045666, GO:0007417, GO:0007165, GO:0006897, negative regulation of clathrin-dependent endocytosis, positive regulation of neuron differentiation, central nervous system development, signal transduction, endocytosis, 0 0 0 2 0 0 0 0 0 ENSG00000140612 chr15 84669538 84716716 - SEC11A protein_coding This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012]. 23478 GO:0016021, GO:0005789, GO:0005787, integral component of membrane, endoplasmic reticulum membrane, signal peptidase complex, GO:0008233, GO:0005515, GO:0004252, peptidase activity, protein binding, serine-type endopeptidase activity, GO:0006465, signal peptide processing, 420 436 531 275 488 394 331 427 337 ENSG00000140623 chr16 4777669 4788521 - SEPT12 protein_coding This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 124404 GO:0097227, GO:0048471, GO:0032154, GO:0032153, GO:0031105, GO:0031105, GO:0031105, GO:0030496, GO:0015630, GO:0015630, GO:0005940, GO:0005819, GO:0005634, GO:0001725, sperm annulus, perinuclear region of cytoplasm, cleavage furrow, cell division site, septin complex, septin complex, septin complex, midbody, microtubule cytoskeleton, microtubule cytoskeleton, septin ring, spindle, nucleus, stress fiber, GO:0060090, GO:0042803, GO:0042803, GO:0042802, GO:0035091, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, protein homodimerization activity, protein homodimerization activity, identical protein binding, phosphatidylinositol binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:0061640, GO:0034613, GO:0030317, GO:0030154, GO:0007283, cytoskeleton-dependent cytokinesis, cellular protein localization, flagellated sperm motility, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000140632 chr16 4803203 4847342 - GLYR1 protein_coding 84656 GO:0005829, GO:0005654, GO:0000786, cytosol, nucleoplasm, nucleosome, GO:0051287, GO:0050661, GO:0042393, GO:0035064, GO:0035064, GO:0031491, GO:0016616, GO:0005515, GO:0003682, GO:0003677, NAD binding, NADP binding, histone binding, methylated histone binding, methylated histone binding, nucleosome binding, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, chromatin binding, DNA binding, GO:0055114, GO:0045944, GO:0035066, oxidation-reduction process, positive regulation of transcription by RNA polymerase II, positive regulation of histone acetylation, 1097 978 1248 669 993 977 844 805 761 ENSG00000140650 chr16 8788823 8849331 + PMM2 protein_coding The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]. 5373 GO:0005829, GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, cytosol, nucleoplasm, GO:0046872, GO:0005515, GO:0004615, metal ion binding, protein binding, phosphomannomutase activity, GO:0045047, GO:0009298, GO:0009298, GO:0006487, GO:0006486, GO:0006013, protein targeting to ER, GDP-mannose biosynthetic process, GDP-mannose biosynthetic process, protein N-linked glycosylation, protein glycosylation, mannose metabolic process, 28 25 46 43 20 33 35 27 40 ENSG00000140675 chr16 31483002 31490860 + SLC5A2 protein_coding This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]. 6524 GO:0070062, GO:0016021, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0055056, GO:0015151, GO:0005412, GO:0005412, GO:0005412, GO:0005362, D-glucose transmembrane transporter activity, alpha-glucoside transmembrane transporter activity, glucose:sodium symporter activity, glucose:sodium symporter activity, glucose:sodium symporter activity, low-affinity glucose:sodium symporter activity, GO:0098719, GO:0098708, GO:0008645, GO:0006814, GO:0005975, GO:0000017, sodium ion import across plasma membrane, glucose import across plasma membrane, hexose transmembrane transport, sodium ion transport, carbohydrate metabolic process, alpha-glucoside transport, 22 14 36 60 28 78 89 23 41 ENSG00000140678 chr16 31355134 31382997 + ITGAX protein_coding This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 3687 GO:0101003, GO:0070821, GO:0034689, GO:0030667, GO:0016020, GO:0009986, GO:0009986, GO:0009986, GO:0008305, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, integrin alphaX-beta2 complex, secretory granule membrane, membrane, cell surface, cell surface, cell surface, integrin complex, plasma membrane, GO:0046872, GO:0038023, GO:0030971, GO:0005515, GO:0005178, metal ion binding, signaling receptor activity, receptor tyrosine kinase binding, protein binding, integrin binding, GO:1905956, GO:0050900, GO:0045766, GO:0043312, GO:0034113, GO:0031643, GO:0030335, GO:0030198, GO:0019221, GO:0010628, GO:0010628, GO:0009887, GO:0008284, GO:0007229, GO:0007155, positive regulation of endothelial tube morphogenesis, leukocyte migration, positive regulation of angiogenesis, neutrophil degranulation, heterotypic cell-cell adhesion, positive regulation of myelination, positive regulation of cell migration, extracellular matrix organization, cytokine-mediated signaling pathway, positive regulation of gene expression, positive regulation of gene expression, animal organ morphogenesis, positive regulation of cell population proliferation, integrin-mediated signaling pathway, cell adhesion, 22094 18355 19748 22210 21090 18361 23814 15048 14755 ENSG00000140682 chr16 31471585 31477960 + TGFB1I1 protein_coding This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 7041 GO:0062023, GO:0016363, GO:0005925, GO:0005925, GO:0005886, GO:0005856, GO:0005829, collagen-containing extracellular matrix, nuclear matrix, focal adhesion, focal adhesion, plasma membrane, cytoskeleton, cytosol, GO:0070411, GO:0050681, GO:0048495, GO:0046872, GO:0005515, GO:0003713, GO:0003713, GO:0003712, I-SMAD binding, androgen receptor binding, Roundabout binding, metal ion binding, protein binding, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, GO:0045893, GO:0045599, GO:0045165, GO:0030855, GO:0030579, GO:0030512, GO:0030511, GO:0016331, GO:0016055, GO:0010718, GO:0009408, GO:0008285, GO:0007155, positive regulation of transcription, DNA-templated, negative regulation of fat cell differentiation, cell fate commitment, epithelial cell differentiation, ubiquitin-dependent SMAD protein catabolic process, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, morphogenesis of embryonic epithelium, Wnt signaling pathway, positive regulation of epithelial to mesenchymal transition, response to heat, negative regulation of cell population proliferation, cell adhesion, 1 0 1 0 0 0 1 2 0 ENSG00000140688 chr16 31489471 31509309 - C16orf58 protein_coding This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]. 64755 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0005515, protein binding, 41 49 72 99 41 154 127 41 84 ENSG00000140691 chr16 31458080 31467166 + ARMC5 protein_coding This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. 79798 GO:0005925, GO:0005829, GO:0005737, GO:0005737, GO:0005654, focal adhesion, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0005515, protein binding, 66 58 94 152 138 217 156 118 127 ENSG00000140694 chr16 14435701 14632728 - PARN protein_coding The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 5073 GO:0016607, GO:0005829, GO:0005737, GO:0005730, GO:0005634, nuclear speck, cytosol, cytoplasm, nucleolus, nucleus, GO:0070034, GO:0046872, GO:0043169, GO:0019901, GO:0005515, GO:0004535, GO:0004535, GO:0004535, GO:0004518, GO:0003730, GO:0003723, GO:0003723, GO:0000175, telomerase RNA binding, metal ion binding, cation binding, protein kinase binding, protein binding, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, nuclease activity, mRNA 3'-UTR binding, RNA binding, RNA binding, 3'-5'-exoribonuclease activity, GO:1904872, GO:0110008, GO:0090669, GO:0090503, GO:0071051, GO:0051973, GO:0043488, GO:0032212, GO:0010587, GO:0009451, GO:0007292, GO:0000495, GO:0000289, GO:0000289, GO:0000184, regulation of telomerase RNA localization to Cajal body, ncRNA deadenylation, telomerase RNA stabilization, RNA phosphodiester bond hydrolysis, exonucleolytic, polyadenylation-dependent snoRNA 3'-end processing, positive regulation of telomerase activity, regulation of mRNA stability, positive regulation of telomere maintenance via telomerase, miRNA catabolic process, RNA modification, female gamete generation, box H/ACA snoRNA 3'-end processing, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 54 55 55 23 44 23 77 72 6 ENSG00000140718 chr16 53701692 54158512 + FTO protein_coding This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]. 79068 GO:0016607, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear speck, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1990984, GO:1990931, GO:1990931, GO:1990931, GO:0043734, GO:0043734, GO:0035516, GO:0035516, GO:0035515, GO:0016740, GO:0008198, GO:0008198, tRNA demethylase activity, RNA N6-methyladenosine dioxygenase activity, RNA N6-methyladenosine dioxygenase activity, RNA N6-methyladenosine dioxygenase activity, DNA-N1-methyladenine dioxygenase activity, DNA-N1-methyladenine dioxygenase activity, oxidative DNA demethylase activity, oxidative DNA demethylase activity, oxidative RNA demethylase activity, transferase activity, ferrous iron binding, ferrous iron binding, GO:0090335, GO:0080111, GO:0070989, GO:0070350, GO:0061157, GO:0060612, GO:0044065, GO:0042245, GO:0040014, GO:0035553, GO:0035553, GO:0035553, GO:0035552, GO:0035552, GO:0010883, GO:0006307, GO:0006307, GO:0001659, regulation of brown fat cell differentiation, DNA demethylation, oxidative demethylation, regulation of white fat cell proliferation, mRNA destabilization, adipose tissue development, regulation of respiratory system process, RNA repair, regulation of multicellular organism growth, oxidative single-stranded RNA demethylation, oxidative single-stranded RNA demethylation, oxidative single-stranded RNA demethylation, oxidative single-stranded DNA demethylation, oxidative single-stranded DNA demethylation, regulation of lipid storage, DNA dealkylation involved in DNA repair, DNA dealkylation involved in DNA repair, temperature homeostasis, 13 15 37 49 29 67 34 21 33 ENSG00000140740 chr16 21952660 21983660 + UQCRC2 protein_coding The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]. 7385 GO:0005751, GO:0005750, GO:0005743, GO:0005739, GO:0005739, GO:0005739, GO:0005654, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex III, mitochondrial inner membrane, mitochondrion, mitochondrion, mitochondrion, nucleoplasm, GO:0046872, GO:0044877, GO:0005515, metal ion binding, protein-containing complex binding, protein binding, GO:0042493, GO:0009060, GO:0006508, GO:0006122, GO:0006119, response to drug, aerobic respiration, proteolysis, mitochondrial electron transport, ubiquinol to cytochrome c, oxidative phosphorylation, 574 536 896 472 575 597 468 409 456 ENSG00000140743 chr16 22345936 22437165 - CDR2 protein_coding 1039 GO:0005737, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, 57 43 104 153 35 189 118 29 90 ENSG00000140749 chr16 21639537 21652660 - IGSF6 protein_coding 10261 GO:0005887, integral component of plasma membrane, GO:0004888, transmembrane signaling receptor activity, GO:0007166, GO:0006955, cell surface receptor signaling pathway, immune response, 6236 4709 9931 827 1991 1489 1526 2024 1596 ENSG00000140750 chr16 24919385 25015666 - ARHGAP17 protein_coding RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]. 55114 GO:0005923, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005622, bicellular tight junction, plasma membrane, cytosol, cytosol, cytosol, nucleoplasm, intracellular anatomical structure, GO:0031267, GO:0017124, GO:0005515, GO:0005096, small GTPase binding, SH3 domain binding, protein binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0035020, GO:0032956, GO:0017156, GO:0007165, GO:0007015, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of Rac protein signal transduction, regulation of actin cytoskeleton organization, calcium-ion regulated exocytosis, signal transduction, actin filament organization, 167 195 255 168 233 158 145 138 129 ENSG00000140795 chr16 46703369 46790407 - MYLK3 protein_coding Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]. 91807 GO:0015629, GO:0005829, GO:0005737, GO:0005737, actin cytoskeleton, cytosol, cytoplasm, cytoplasm, GO:0005524, GO:0004687, GO:0004687, GO:0004683, ATP binding, myosin light chain kinase activity, myosin light chain kinase activity, calmodulin-dependent protein kinase activity, GO:0071347, GO:0060298, GO:0055003, GO:0055003, GO:0048769, GO:0045214, GO:0045214, GO:0006468, GO:0002528, cellular response to interleukin-1, positive regulation of sarcomere organization, cardiac myofibril assembly, cardiac myofibril assembly, sarcomerogenesis, sarcomere organization, sarcomere organization, protein phosphorylation, regulation of vascular permeability involved in acute inflammatory response, 1 3 6 4 3 10 2 3 13 ENSG00000140798 chr16 48081006 48156018 - ABCC12 protein_coding This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]. 94160 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0042626, GO:0016887, GO:0005524, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, GO:0055085, transmembrane transport, 0 0 0 0 0 0 4 0 0 ENSG00000140807 chr16 50548330 50649249 + NKD1 protein_coding In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]. 85407 GO:0005886, GO:0005737, GO:0000159, plasma membrane, cytoplasm, protein phosphatase type 2A complex, GO:0030165, GO:0005515, GO:0005509, PDZ domain binding, protein binding, calcium ion binding, GO:2000096, GO:1901233, GO:1901231, GO:0090249, GO:0090090, GO:0090090, GO:0045732, GO:0030178, GO:0016055, GO:0007525, GO:0001754, positive regulation of Wnt signaling pathway, planar cell polarity pathway, negative regulation of convergent extension involved in axis elongation, positive regulation of non-canonical Wnt signaling pathway via JNK cascade, regulation of cell migration involved in somitogenic axis elongation, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, positive regulation of protein catabolic process, negative regulation of Wnt signaling pathway, Wnt signaling pathway, somatic muscle development, eye photoreceptor cell differentiation, 32 76 64 33 114 123 79 104 67 ENSG00000140829 chr16 72093562 72112912 + DHX38 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]. 9785 GO:0071013, GO:0016020, GO:0005681, GO:0005654, GO:0005634, GO:0005622, catalytic step 2 spliceosome, membrane, spliceosomal complex, nucleoplasm, nucleus, intracellular anatomical structure, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, RNA binding, GO:0031124, GO:0006406, GO:0006405, GO:0000398, GO:0000398, GO:0000398, GO:0000398, mRNA 3'-end processing, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 738 735 818 934 877 970 918 568 762 ENSG00000140830 chr16 72044289 72094431 - TXNL4B protein_coding 54957 GO:0046540, GO:0005829, GO:0005682, GO:0005681, GO:0005654, U4/U6 x U5 tri-snRNP complex, cytosol, U5 snRNP, spliceosomal complex, nucleoplasm, GO:0005515, protein binding, GO:0007049, GO:0000398, cell cycle, mRNA splicing, via spliceosome, 137 146 166 146 171 161 111 116 96 ENSG00000140832 chr16 71626161 71642114 + MARVELD3 protein_coding 91862 GO:0031410, GO:0016021, GO:0005923, GO:0005923, GO:0005737, cytoplasmic vesicle, integral component of membrane, bicellular tight junction, bicellular tight junction, cytoplasm, GO:0031435, GO:0005515, mitogen-activated protein kinase kinase kinase binding, protein binding, GO:1902414, GO:0070830, GO:0070830, GO:0050680, GO:0046329, GO:0045216, GO:0010633, GO:0010633, GO:0006970, protein localization to cell junction, bicellular tight junction assembly, bicellular tight junction assembly, negative regulation of epithelial cell proliferation, negative regulation of JNK cascade, cell-cell junction organization, negative regulation of epithelial cell migration, negative regulation of epithelial cell migration, response to osmotic stress, 0 1 0 1 0 2 0 0 0 ENSG00000140835 chr16 71525233 71538746 + CHST4 protein_coding This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]. 10164 GO:0031228, GO:0016021, GO:0005802, GO:0005802, GO:0000139, intrinsic component of Golgi membrane, integral component of membrane, trans-Golgi network, trans-Golgi network, Golgi membrane, GO:0008146, GO:0001517, GO:0001517, GO:0001517, sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, GO:0016266, GO:0007267, GO:0007155, GO:0006955, GO:0006954, GO:0006790, GO:0006790, GO:0006477, GO:0006044, GO:0006044, GO:0005975, O-glycan processing, cell-cell signaling, cell adhesion, immune response, inflammatory response, sulfur compound metabolic process, sulfur compound metabolic process, protein sulfation, N-acetylglucosamine metabolic process, N-acetylglucosamine metabolic process, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000140836 chr16 72782885 73891871 - ZFHX3 protein_coding This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 463 GO:0016604, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nuclear body, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:0019899, GO:0008270, GO:0005515, GO:0003700, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, enzyme binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904059, GO:0071559, GO:0045944, GO:0045893, GO:0045785, GO:0045664, GO:0032922, GO:0007517, GO:0007420, GO:0007050, GO:0006357, GO:0006355, GO:0000122, GO:0000122, regulation of locomotor rhythm, response to transforming growth factor beta, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of cell adhesion, regulation of neuron differentiation, circadian regulation of gene expression, muscle organ development, brain development, cell cycle arrest, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 21 41 25 46 47 64 29 34 38 ENSG00000140839 chr16 74408270 74421953 - CLEC18B protein_coding 497190 GO:0016529, GO:0005794, GO:0005768, GO:0005615, sarcoplasmic reticulum, Golgi apparatus, endosome, extracellular space, GO:0030247, polysaccharide binding, 38 32 24 50 58 45 67 34 26 ENSG00000140848 chr16 57092537 57148367 + CPNE2 protein_coding Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008]. 221184 GO:0070062, GO:0005886, GO:0005737, GO:0005634, extracellular exosome, plasma membrane, cytoplasm, nucleus, GO:0046872, GO:0005544, GO:0005515, metal ion binding, calcium-dependent phospholipid binding, protein binding, GO:0071277, cellular response to calcium ion, 388 308 444 217 273 230 253 183 221 ENSG00000140853 chr16 56989485 57083531 + NLRC5 protein_coding This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]. 84166 GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, centrosome, cytoplasm, nucleus, nucleus, GO:0005524, GO:0005515, GO:0000978, ATP binding, protein binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060340, GO:0060339, GO:0060339, GO:0060335, GO:0060335, GO:0051607, GO:0045944, GO:0045944, GO:0045345, GO:0045345, GO:0045087, GO:0043549, GO:0035556, GO:0032480, GO:0032088, GO:0009617, positive regulation of type I interferon-mediated signaling pathway, negative regulation of type I interferon-mediated signaling pathway, negative regulation of type I interferon-mediated signaling pathway, positive regulation of interferon-gamma-mediated signaling pathway, positive regulation of interferon-gamma-mediated signaling pathway, defense response to virus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of MHC class I biosynthetic process, positive regulation of MHC class I biosynthetic process, innate immune response, regulation of kinase activity, intracellular signal transduction, negative regulation of type I interferon production, negative regulation of NF-kappaB transcription factor activity, response to bacterium, 1339 994 1871 1549 1135 1923 1590 809 1590 ENSG00000140854 chr16 57735730 57757250 + KATNB1 protein_coding Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]. 10300 GO:0043025, GO:0030496, GO:0030426, GO:0016020, GO:0015630, GO:0008352, GO:0008352, GO:0008352, GO:0005886, GO:0005874, GO:0005829, GO:0005819, GO:0005813, GO:0005737, GO:0005634, GO:0000922, neuronal cell body, midbody, growth cone, membrane, microtubule cytoskeleton, katanin complex, katanin complex, katanin complex, plasma membrane, microtubule, cytosol, spindle, centrosome, cytoplasm, nucleus, spindle pole, GO:0070840, GO:0060590, GO:0046982, GO:0008017, GO:0005515, dynein complex binding, ATPase regulator activity, protein heterodimerization activity, microtubule binding, protein binding, GO:0051301, GO:0051013, GO:0050790, GO:0031117, GO:0010976, GO:0010942, GO:0007079, GO:0007026, GO:0007019, GO:0006605, cell division, microtubule severing, regulation of catalytic activity, positive regulation of microtubule depolymerization, positive regulation of neuron projection development, positive regulation of cell death, mitotic chromosome movement towards spindle pole, negative regulation of microtubule depolymerization, microtubule depolymerization, protein targeting, 277 246 318 214 306 297 235 262 272 ENSG00000140859 chr16 57758217 57863053 - KIFC3 protein_coding This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 3801 GO:0070062, GO:0030659, GO:0005915, GO:0005874, GO:0005871, GO:0005813, GO:0005794, extracellular exosome, cytoplasmic vesicle membrane, zonula adherens, microtubule, kinesin complex, centrosome, Golgi apparatus, GO:0008569, GO:0008017, GO:0005524, GO:0005515, GO:0003777, ATP-dependent microtubule motor activity, minus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0090136, GO:0045218, GO:0007601, GO:0007030, GO:0007018, epithelial cell-cell adhesion, zonula adherens maintenance, visual perception, Golgi organization, microtubule-based movement, 25 21 21 37 25 53 39 26 67 ENSG00000140873 chr16 77247813 77435114 - ADAMTS18 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]. 170692 GO:0031012, extracellular matrix, GO:0046872, GO:0004222, metal ion binding, metalloendopeptidase activity, GO:0090331, GO:0030198, GO:0006508, GO:0001654, negative regulation of platelet aggregation, extracellular matrix organization, proteolysis, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000140876 chr16 77722492 77742260 + NUDT7 protein_coding The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 283927 GO:0005829, GO:0005782, GO:0005777, cytosol, peroxisomal matrix, peroxisome, GO:0050072, GO:0030515, GO:0030145, GO:0016289, GO:0003986, GO:0003986, GO:0003674, GO:0000287, m7G(5')pppN diphosphatase activity, snoRNA binding, manganese ion binding, CoA hydrolase activity, acetyl-CoA hydrolase activity, acetyl-CoA hydrolase activity, molecular_function, magnesium ion binding, GO:1902859, GO:0050873, GO:0046356, GO:0044580, GO:0036114, GO:0015938, GO:0015938, GO:0009132, GO:0009062, GO:0008150, GO:0006625, propionyl-CoA catabolic process, brown fat cell differentiation, acetyl-CoA catabolic process, butyryl-CoA catabolic process, medium-chain fatty-acyl-CoA catabolic process, coenzyme A catabolic process, coenzyme A catabolic process, nucleoside diphosphate metabolic process, fatty acid catabolic process, biological_process, protein targeting to peroxisome, 1 2 4 6 11 4 1 2 1 ENSG00000140905 chr16 81081938 81096425 - GCSH protein_coding Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]. 2653 GO:0005960, GO:0005759, GO:0005739, GO:0005739, GO:0005737, glycine cleavage complex, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0005515, GO:0004047, protein binding, aminomethyltransferase activity, GO:0019464, GO:0019464, GO:0009249, GO:0009249, GO:0006546, glycine decarboxylation via glycine cleavage system, glycine decarboxylation via glycine cleavage system, protein lipoylation, protein lipoylation, glycine catabolic process, 1 0 2 1 0 3 1 0 0 ENSG00000140931 chr16 66603874 66613892 + CMTM3 protein_coding This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 123920 GO:0031965, GO:0031410, GO:0016021, GO:0005829, GO:0005615, nuclear membrane, cytoplasmic vesicle, integral component of membrane, cytosol, extracellular space, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0050861, GO:0007165, GO:0006935, GO:0001835, positive regulation of B cell receptor signaling pathway, signal transduction, chemotaxis, blastocyst hatching, 276 282 513 139 208 268 157 184 249 ENSG00000140932 chr16 66579448 66588275 + CMTM2 protein_coding This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]. 146225 GO:0016021, GO:0005615, integral component of membrane, extracellular space, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0007165, GO:0006935, signal transduction, chemotaxis, 2772 2417 3807 1016 2377 1972 1332 2178 1825 ENSG00000140937 chr16 64943753 65126112 - CDH11 protein_coding This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008]. 1009 GO:0098978, GO:0098685, GO:0070062, GO:0016342, GO:0016021, GO:0005912, GO:0005886, GO:0005737, glutamatergic synapse, Schaffer collateral - CA1 synapse, extracellular exosome, catenin complex, integral component of membrane, adherens junction, plasma membrane, cytoplasm, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0050804, GO:0034332, GO:0034332, GO:0021957, GO:0016339, GO:0007275, GO:0007156, GO:0007155, GO:0007043, GO:0001503, GO:0001501, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, modulation of chemical synaptic transmission, adherens junction organization, adherens junction organization, corticospinal tract morphogenesis, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, cell-cell junction assembly, ossification, skeletal system development, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000140939 chr16 67170154 67175735 + NOL3 protein_coding This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 8996 GO:0016529, GO:0016020, GO:0005829, GO:0005739, GO:0005730, sarcoplasmic reticulum, membrane, cytosol, mitochondrion, nucleolus, GO:0089720, GO:0043027, GO:0042802, GO:0035877, GO:0005515, GO:0005509, GO:0005123, GO:0003723, caspase binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, identical protein binding, death effector domain binding, protein binding, calcium ion binding, death receptor binding, RNA binding, GO:2001237, GO:1990001, GO:1903298, GO:1902176, GO:1902109, GO:1901222, GO:0097193, GO:0090201, GO:0060547, GO:0051259, GO:0043066, GO:0014876, GO:0014808, GO:0014736, GO:0010804, GO:0010667, GO:0010659, GO:0008380, GO:0006376, GO:0002931, GO:0001974, GO:0001666, negative regulation of extrinsic apoptotic signaling pathway, inhibition of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, negative regulation of mitochondrial membrane permeability involved in apoptotic process, regulation of NIK/NF-kappaB signaling, intrinsic apoptotic signaling pathway, negative regulation of release of cytochrome c from mitochondria, negative regulation of necrotic cell death, protein complex oligomerization, negative regulation of apoptotic process, response to injury involved in regulation of muscle adaptation, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, negative regulation of muscle atrophy, negative regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of cardiac muscle cell apoptotic process, cardiac muscle cell apoptotic process, RNA splicing, mRNA splice site selection, response to ischemia, blood vessel remodeling, response to hypoxia, 17 1 13 17 8 7 15 4 15 ENSG00000140941 chr16 87383995 87404779 + MAP1LC3B protein_coding The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008]. 81631 GO:0043231, GO:0031410, GO:0031090, GO:0012505, GO:0005930, GO:0005874, GO:0005829, GO:0005829, GO:0005776, GO:0005776, GO:0005776, GO:0005739, GO:0000421, GO:0000421, intracellular membrane-bounded organelle, cytoplasmic vesicle, organelle membrane, endomembrane system, axoneme, microtubule, cytosol, cytosol, autophagosome, autophagosome, autophagosome, mitochondrion, autophagosome membrane, autophagosome membrane, GO:0031625, GO:0031625, GO:0008017, GO:0005515, ubiquitin protein ligase binding, ubiquitin protein ligase binding, microtubule binding, protein binding, GO:0097352, GO:0097352, GO:0097352, GO:0016236, GO:0016236, GO:0016236, GO:0009267, GO:0006995, GO:0006914, GO:0000423, GO:0000422, GO:0000422, GO:0000045, autophagosome maturation, autophagosome maturation, autophagosome maturation, macroautophagy, macroautophagy, macroautophagy, cellular response to starvation, cellular response to nitrogen starvation, autophagy, mitophagy, autophagy of mitochondrion, autophagy of mitochondrion, autophagosome assembly, 3417 3804 4070 13851 21218 16491 9915 10639 9588 ENSG00000140943 chr16 84053761 84116906 - MBTPS1 protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]. 8720 GO:0016021, GO:0005795, GO:0005794, GO:0005789, GO:0005788, GO:0000139, integral component of membrane, Golgi stack, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum lumen, Golgi membrane, GO:0004252, GO:0004252, GO:0004252, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0060627, GO:0045540, GO:0044267, GO:0043687, GO:0036500, GO:0034976, GO:0031293, GO:0030968, GO:0008203, GO:0007040, GO:0006606, GO:0006508, regulation of vesicle-mediated transport, regulation of cholesterol biosynthetic process, cellular protein metabolic process, post-translational protein modification, ATF6-mediated unfolded protein response, response to endoplasmic reticulum stress, membrane protein intracellular domain proteolysis, endoplasmic reticulum unfolded protein response, cholesterol metabolic process, lysosome organization, protein import into nucleus, proteolysis, 323 295 448 377 321 439 449 251 323 ENSG00000140945 chr16 82626803 83800640 + CDH13 protein_coding This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]. 1012 GO:0070062, GO:0062023, GO:0048471, GO:0043005, GO:0031225, GO:0016342, GO:0009897, GO:0005925, GO:0005901, GO:0005886, GO:0005886, GO:0005737, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, perinuclear region of cytoplasm, neuron projection, anchored component of membrane, catenin complex, external side of plasma membrane, focal adhesion, caveola, plasma membrane, plasma membrane, cytoplasm, extracellular space, extracellular region, GO:0071813, GO:0055100, GO:0045296, GO:0045296, GO:0042803, GO:0030169, GO:0005515, GO:0005509, lipoprotein particle binding, adiponectin binding, cadherin binding, cadherin binding, protein homodimerization activity, low-density lipoprotein particle binding, protein binding, calcium ion binding, GO:0098742, GO:0055096, GO:0051668, GO:0050927, GO:0050850, GO:0048661, GO:0045944, GO:0043616, GO:0043542, GO:0042058, GO:0034332, GO:0030335, GO:0030100, GO:0030032, GO:0016601, GO:0016339, GO:0008285, GO:0007266, GO:0007162, GO:0007156, GO:0007156, GO:0002040, GO:0002040, GO:0001954, GO:0001938, GO:0000278, cell-cell adhesion via plasma-membrane adhesion molecules, low-density lipoprotein particle mediated signaling, localization within membrane, positive regulation of positive chemotaxis, positive regulation of calcium-mediated signaling, positive regulation of smooth muscle cell proliferation, positive regulation of transcription by RNA polymerase II, keratinocyte proliferation, endothelial cell migration, regulation of epidermal growth factor receptor signaling pathway, adherens junction organization, positive regulation of cell migration, regulation of endocytosis, lamellipodium assembly, Rac protein signal transduction, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, negative regulation of cell population proliferation, Rho protein signal transduction, negative regulation of cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, sprouting angiogenesis, sprouting angiogenesis, positive regulation of cell-matrix adhesion, positive regulation of endothelial cell proliferation, mitotic cell cycle, 25 26 36 12 30 7 17 13 8 ENSG00000140948 chr16 87406246 87492045 - ZCCHC14 protein_coding 23174 GO:0035091, GO:0008270, GO:0005515, GO:0003676, phosphatidylinositol binding, zinc ion binding, protein binding, nucleic acid binding, 161 145 166 443 454 420 343 249 278 ENSG00000140950 chr16 84476421 84554033 - TLDC1 protein_coding 57707 GO:0016020, GO:0005829, GO:0005765, GO:0005765, GO:0005737, GO:0005730, GO:0005654, membrane, cytosol, lysosomal membrane, lysosomal membrane, cytoplasm, nucleolus, nucleoplasm, GO:0005515, protein binding, GO:1903204, GO:0150032, GO:0043200, GO:0042127, GO:0032868, GO:0031929, GO:0031667, GO:0030334, negative regulation of oxidative stress-induced neuron death, positive regulation of protein localization to lysosome, response to amino acid, regulation of cell population proliferation, response to insulin, TOR signaling, response to nutrient levels, regulation of cell migration, 29 30 50 46 26 34 29 36 25 ENSG00000140955 chr16 84191138 84197168 + ADAD2 protein_coding 161931 GO:0005737, GO:0005730, cytoplasm, nucleolus, GO:0008251, GO:0003726, GO:0003725, tRNA-specific adenosine deaminase activity, double-stranded RNA adenosine deaminase activity, double-stranded RNA binding, GO:0006396, GO:0006382, RNA processing, adenosine to inosine editing, 1 0 0 4 2 0 1 1 1 ENSG00000140961 chr16 83948282 83966332 + OSGIN1 protein_coding This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]. 29948 GO:0005575, cellular_component, GO:0008083, GO:0008083, GO:0005515, growth factor activity, growth factor activity, protein binding, GO:0043065, GO:0042981, GO:0042127, GO:0030334, GO:0030308, GO:0030308, GO:0030154, GO:0007275, GO:0007165, positive regulation of apoptotic process, regulation of apoptotic process, regulation of cell population proliferation, regulation of cell migration, negative regulation of cell growth, negative regulation of cell growth, cell differentiation, multicellular organism development, signal transduction, 136 177 158 587 436 445 256 190 206 ENSG00000140968 chr16 85898803 85922609 + IRF8 protein_coding Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]. 3394 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097028, GO:0071346, GO:0071222, GO:0060337, GO:0060333, GO:0045944, GO:0042832, GO:0042742, GO:0032735, GO:0032729, GO:0032479, GO:0030099, GO:0006955, GO:0006914, GO:0006909, GO:0006357, GO:0002376, GO:0002273, GO:0000122, dendritic cell differentiation, cellular response to interferon-gamma, cellular response to lipopolysaccharide, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, positive regulation of transcription by RNA polymerase II, defense response to protozoan, defense response to bacterium, positive regulation of interleukin-12 production, positive regulation of interferon-gamma production, regulation of type I interferon production, myeloid cell differentiation, immune response, autophagy, phagocytosis, regulation of transcription by RNA polymerase II, immune system process, plasmacytoid dendritic cell differentiation, negative regulation of transcription by RNA polymerase II, 29 59 85 86 95 110 90 82 45 ENSG00000140983 chr16 668086 674174 + RHOT2 protein_coding This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [provided by RefSeq, Nov 2011]. 89941 GO:0031307, GO:0031307, GO:0016020, GO:0005886, GO:0005829, GO:0005739, GO:0005654, integral component of mitochondrial outer membrane, integral component of mitochondrial outer membrane, membrane, plasma membrane, cytosol, mitochondrion, nucleoplasm, GO:0005525, GO:0005515, GO:0005509, GO:0003924, GTP binding, protein binding, calcium ion binding, GTPase activity, GO:0097345, GO:0051056, GO:0047497, GO:0047497, GO:0019725, GO:0010821, GO:0007005, mitochondrial outer membrane permeabilization, regulation of small GTPase mediated signal transduction, mitochondrion transport along microtubule, mitochondrion transport along microtubule, cellular homeostasis, regulation of mitochondrion organization, mitochondrion organization, 743 838 982 1229 1286 1211 1113 948 925 ENSG00000140986 chr16 1943974 1957606 - RPL3L protein_coding This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]. 6123 GO:0022625, GO:0022625, GO:0016020, GO:0005840, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, ribosome, GO:0003735, GO:0003735, GO:0003723, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0006412, GO:0000027, translation, ribosomal large subunit assembly, 3 0 0 0 3 0 0 2 0 ENSG00000140987 chr16 3382081 3401065 - ZSCAN32 protein_coding 54925 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 205 134 162 80 102 94 71 61 68 ENSG00000140988 chr16 1962052 1964860 - RPS2 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6187 GO:0070062, GO:0045202, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005925, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, synapse, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, focal adhesion, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0045296, GO:0019899, GO:0017134, GO:0005515, GO:0003735, GO:0003735, GO:0003729, GO:0003723, cadherin binding, enzyme binding, fibroblast growth factor binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, mRNA binding, RNA binding, GO:0071353, GO:0051443, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0006364, GO:0000184, cellular response to interleukin-4, positive regulation of ubiquitin-protein transferase activity, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1762 1346 2332 4214 2227 4555 3115 1894 3323 ENSG00000140990 chr16 1959508 1961975 + NDUFB10 protein_coding 4716 GO:0005747, GO:0005747, GO:0005747, GO:0005743, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 154 186 148 138 148 184 147 140 156 ENSG00000140992 chr16 2537964 2603188 + PDPK1 protein_coding 5170 GO:0043204, GO:0042995, GO:0016020, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, perikaryon, cell projection, membrane, focal adhesion, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0043274, GO:0019901, GO:0016004, GO:0005524, GO:0005515, GO:0005158, GO:0004676, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, phospholipase binding, protein kinase binding, phospholipase activator activity, ATP binding, protein binding, insulin receptor binding, 3-phosphoinositide-dependent protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000352, GO:1990416, GO:1905564, GO:1903672, GO:1903078, GO:0097191, GO:0071364, GO:0051281, GO:0050852, GO:0048041, GO:0046777, GO:0045766, GO:0043536, GO:0043524, GO:0043122, GO:0038095, GO:0035556, GO:0035556, GO:0032869, GO:0032148, GO:0032148, GO:0031295, GO:0030512, GO:0030168, GO:0030036, GO:0019722, GO:0018107, GO:0018105, GO:0016477, GO:0010518, GO:0007173, GO:0006469, GO:0006468, GO:0002223, negative regulation of endothelial cell apoptotic process, cellular response to brain-derived neurotrophic factor stimulus, positive regulation of vascular endothelial cell proliferation, positive regulation of sprouting angiogenesis, positive regulation of protein localization to plasma membrane, extrinsic apoptotic signaling pathway, cellular response to epidermal growth factor stimulus, positive regulation of release of sequestered calcium ion into cytosol, T cell receptor signaling pathway, focal adhesion assembly, protein autophosphorylation, positive regulation of angiogenesis, positive regulation of blood vessel endothelial cell migration, negative regulation of neuron apoptotic process, regulation of I-kappaB kinase/NF-kappaB signaling, Fc-epsilon receptor signaling pathway, intracellular signal transduction, intracellular signal transduction, cellular response to insulin stimulus, activation of protein kinase B activity, activation of protein kinase B activity, T cell costimulation, negative regulation of transforming growth factor beta receptor signaling pathway, platelet activation, actin cytoskeleton organization, calcium-mediated signaling, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, cell migration, positive regulation of phospholipase activity, epidermal growth factor receptor signaling pathway, negative regulation of protein kinase activity, protein phosphorylation, stimulatory C-type lectin receptor signaling pathway, 1094 1156 1407 876 1237 1200 1024 874 942 ENSG00000140993 chr16 3298832 3305729 - TIGD7 protein_coding The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]. 91151 GO:0005634, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, 306 260 221 377 339 251 344 257 171 ENSG00000140995 chr16 89947925 89968060 + DEF8 protein_coding 54849 GO:0046872, metal ion binding, GO:1900029, GO:0045780, GO:0035556, GO:0032418, positive regulation of ruffle assembly, positive regulation of bone resorption, intracellular signal transduction, lysosome localization, 2270 2445 2932 2932 3895 3696 2777 2418 3193 ENSG00000141002 chr16 89873570 89913627 + TCF25 protein_coding TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]. 22980 GO:1990112, GO:0005634, RQC complex, nucleus, GO:0005515, GO:0003700, GO:0003677, protein binding, DNA-binding transcription factor activity, DNA binding, GO:0007507, GO:0000122, heart development, negative regulation of transcription by RNA polymerase II, 1507 1680 2075 1016 1434 1294 1269 1111 1144 ENSG00000141012 chr16 88813734 88856970 - GALNS protein_coding This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]. 2588 GO:0070062, GO:0043202, GO:0035578, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, extracellular region, GO:0046872, GO:0043890, GO:0008484, GO:0004065, GO:0003943, metal ion binding, N-acetylgalactosamine-6-sulfatase activity, sulfuric ester hydrolase activity, arylsulfatase activity, N-acetylgalactosamine-4-sulfatase activity, GO:0043312, GO:0042340, neutrophil degranulation, keratan sulfate catabolic process, 409 561 538 339 541 476 339 470 361 ENSG00000141013 chr16 90019629 90044975 + GAS8 protein_coding This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. 2622 GO:0036126, GO:0036064, GO:0031514, GO:0031514, GO:0005930, GO:0005929, GO:0005874, GO:0005874, GO:0005794, GO:0005576, sperm flagellum, ciliary basal body, motile cilium, motile cilium, axoneme, cilium, microtubule, microtubule, Golgi apparatus, extracellular region, GO:0031267, GO:0008017, GO:0005515, GO:0003674, small GTPase binding, microtubule binding, protein binding, molecular_function, GO:1904526, GO:1903566, GO:0060294, GO:0045880, GO:0035082, GO:0034613, GO:0030317, GO:0030317, GO:0008285, GO:0007420, GO:0007368, GO:0003351, regulation of microtubule binding, positive regulation of protein localization to cilium, cilium movement involved in cell motility, positive regulation of smoothened signaling pathway, axoneme assembly, cellular protein localization, flagellated sperm motility, flagellated sperm motility, negative regulation of cell population proliferation, brain development, determination of left/right symmetry, epithelial cilium movement involved in extracellular fluid movement, 28 23 28 35 48 53 66 29 43 ENSG00000141026 chr17 17476986 17493226 + MED9 protein_coding The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 55090 GO:0016592, mediator complex, GO:0005515, GO:0003712, protein binding, transcription coregulator activity, GO:0006357, regulation of transcription by RNA polymerase II, 20 26 35 26 19 29 20 16 36 ENSG00000141027 chr17 16029157 16218185 - NCOR1 protein_coding This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]. 9611 GO:0072686, GO:0017053, GO:0017053, GO:0016580, GO:0016580, GO:0016020, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000118, GO:0000118, mitotic spindle, transcription repressor complex, transcription repressor complex, Sin3 complex, Sin3 complex, membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, histone deacetylase complex, histone deacetylase complex, GO:0046966, GO:0042826, GO:0042826, GO:0035257, GO:0035257, GO:0005515, GO:0003714, GO:0003714, GO:0003714, GO:0001102, GO:0000976, thyroid hormone receptor binding, histone deacetylase binding, histone deacetylase binding, nuclear hormone receptor binding, nuclear hormone receptor binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, RNA polymerase II activating transcription factor binding, transcription regulatory region sequence-specific DNA binding, GO:1903799, GO:0060766, GO:0051225, GO:0046329, GO:0045922, GO:0045892, GO:0045892, GO:0045820, GO:0045475, GO:0019216, GO:0007623, GO:0006325, GO:0000122, GO:0000122, GO:0000122, negative regulation of production of miRNAs involved in gene silencing by miRNA, negative regulation of androgen receptor signaling pathway, spindle assembly, negative regulation of JNK cascade, negative regulation of fatty acid metabolic process, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of glycolytic process, locomotor rhythm, regulation of lipid metabolic process, circadian rhythm, chromatin organization, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1933 2169 2397 865 1016 983 976 761 822 ENSG00000141028 chr17 14024514 14025488 + CDRT15P1 unprocessed_pseudogene 1 0 2 6 0 0 0 0 0 ENSG00000141030 chr17 17246820 17281293 - COPS3 protein_coding The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 8533 GO:0008180, GO:0008180, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, COP9 signalosome, COP9 signalosome, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0009416, GO:0007165, GO:0006511, GO:0006283, GO:0001701, GO:0000715, GO:0000338, post-translational protein modification, response to light stimulus, signal transduction, ubiquitin-dependent protein catabolic process, transcription-coupled nucleotide-excision repair, in utero embryonic development, nucleotide-excision repair, DNA damage recognition, protein deneddylation, 169 191 221 235 310 260 224 197 216 ENSG00000141034 chr17 18039292 18068404 + GID4 protein_coding The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 79018 GO:0000151, ubiquitin ligase complex, GO:0061630, ubiquitin protein ligase activity, GO:0043161, GO:0016567, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, 50 58 65 31 63 64 56 52 65 ENSG00000141040 chr17 16551387 16569206 - ZNF287 protein_coding This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 57336 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0006357, GO:0001817, positive regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of cytokine production, 7 4 5 5 3 22 6 3 5 ENSG00000141052 chr17 12665890 12768949 + MYOCD protein_coding This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 93649 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0070412, GO:0061629, GO:0042826, GO:0035035, GO:0008134, GO:0005515, GO:0003713, GO:0003713, R-SMAD binding, RNA polymerase II-specific DNA-binding transcription factor binding, histone deacetylase binding, histone acetyltransferase binding, transcription factor binding, protein binding, transcription coactivator activity, transcription coactivator activity, GO:2001015, GO:2000727, GO:2000724, GO:2000721, GO:2000587, GO:1904753, GO:1904706, GO:1903800, GO:1900239, GO:1900222, GO:0097070, GO:0060354, GO:0060157, GO:0060065, GO:0055012, GO:0055007, GO:0055007, GO:0051152, GO:0051150, GO:0051145, GO:0051145, GO:0051091, GO:0048565, GO:0048286, GO:0045987, GO:0045944, GO:0045944, GO:0045893, GO:0045736, GO:0045661, GO:0043954, GO:0043388, GO:0035886, GO:0035065, GO:0035051, GO:0030511, GO:0010832, GO:0010667, GO:0008285, GO:0008284, GO:0003257, GO:0003231, GO:0001666, GO:0001570, GO:0001560, GO:0000122, negative regulation of skeletal muscle cell differentiation, positive regulation of cardiac muscle cell differentiation, positive regulation of cardiac vascular smooth muscle cell differentiation, positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation, negative regulation of platelet-derived growth factor receptor-beta signaling pathway, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of production of miRNAs involved in gene silencing by miRNA, regulation of phenotypic switching, negative regulation of amyloid-beta clearance, ductus arteriosus closure, negative regulation of cell adhesion molecule production, urinary bladder development, uterus development, ventricular cardiac muscle cell differentiation, cardiac muscle cell differentiation, cardiac muscle cell differentiation, positive regulation of smooth muscle cell differentiation, regulation of smooth muscle cell differentiation, smooth muscle cell differentiation, smooth muscle cell differentiation, positive regulation of DNA-binding transcription factor activity, digestive tract development, lung alveolus development, positive regulation of smooth muscle contraction, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, regulation of myoblast differentiation, cellular component maintenance, positive regulation of DNA binding, vascular associated smooth muscle cell differentiation, regulation of histone acetylation, cardiocyte differentiation, positive regulation of transforming growth factor beta receptor signaling pathway, negative regulation of myotube differentiation, negative regulation of cardiac muscle cell apoptotic process, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation, cardiac ventricle development, response to hypoxia, vasculogenesis, regulation of cell growth by extracellular stimulus, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000141068 chr17 27456470 27626438 + KSR1 protein_coding 8844 GO:0032991, GO:0032587, GO:0016020, GO:0016020, GO:0016020, GO:0005829, GO:0005789, GO:0005783, GO:0005783, GO:0005737, protein-containing complex, ruffle membrane, membrane, membrane, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0106311, GO:0106310, GO:0071889, GO:0051879, GO:0051087, GO:0046872, GO:0031434, GO:0008022, GO:0005524, GO:0005515, GO:0005078, GO:0004672, protein threonine kinase activity, protein serine kinase activity, 14-3-3 protein binding, Hsp90 protein binding, chaperone binding, metal ion binding, mitogen-activated protein kinase kinase binding, protein C-terminus binding, ATP binding, protein binding, MAP-kinase scaffold activity, protein kinase activity, GO:0043410, GO:0043405, GO:0042127, GO:0019933, GO:0007265, GO:0007265, GO:0007265, GO:0007165, GO:0000185, GO:0000165, positive regulation of MAPK cascade, regulation of MAP kinase activity, regulation of cell population proliferation, cAMP-mediated signaling, Ras protein signal transduction, Ras protein signal transduction, Ras protein signal transduction, signal transduction, activation of MAPKKK activity, MAPK cascade, 680 1915 1771 691 2545 1822 874 1742 1631 ENSG00000141076 chr16 69131291 69231130 + UTP4 protein_coding This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 84916 GO:0034455, GO:0034455, GO:0032040, GO:0030686, GO:0005730, GO:0005694, GO:0005654, GO:0001650, t-UTP complex, t-UTP complex, small-subunit processome, 90S preribosome, nucleolus, chromosome, nucleoplasm, fibrillar center, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0030490, GO:0006364, GO:0006355, GO:0000462, maturation of SSU-rRNA, rRNA processing, regulation of transcription, DNA-templated, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 30 31 70 59 14 24 23 35 35 ENSG00000141084 chr16 67723066 67806652 - RANBP10 protein_coding RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 57610 GO:0005829, GO:0005737, GO:0005634, GO:0000151, cytosol, cytoplasm, nucleus, ubiquitin ligase complex, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0007166, GO:0007010, cell surface receptor signaling pathway, cytoskeleton organization, 152 149 158 165 209 146 159 131 128 ENSG00000141086 chr16 67927640 67932414 - CTRL protein_coding This gene encodes a serine-type endopeptidase with chymotrypsin- and elastase-2-like activities. The gene encoding this zymogen is expressed specifically in the pancreas and likely functions as a digestive enzyme. [provided by RefSeq, Sep 2016]. 1506 GO:0005615, extracellular space, GO:0008236, GO:0005515, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0030163, GO:0006508, protein catabolic process, proteolysis, 13 11 12 23 22 20 10 8 28 ENSG00000141096 chr16 67975663 67980829 - DPEP3 protein_coding This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 64180 GO:0031225, GO:0005886, GO:0001669, anchored component of membrane, plasma membrane, acrosomal vesicle, GO:0070573, GO:0046872, GO:0016805, GO:0005515, metallodipeptidase activity, metal ion binding, dipeptidase activity, protein binding, GO:0006508, proteolysis, 176 211 174 197 388 233 224 222 185 ENSG00000141098 chr16 67674531 67719421 - GFOD2 protein_coding 81577 GO:0031012, extracellular matrix, GO:0016491, oxidoreductase activity, GO:0055114, GO:0030198, oxidation-reduction process, extracellular matrix organization, 253 271 208 175 289 232 261 237 264 ENSG00000141101 chr16 69741867 69754940 - NOB1 protein_coding In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]. 28987 GO:0030688, GO:0005829, GO:0005654, preribosome, small subunit precursor, cytosol, nucleoplasm, GO:0046872, GO:0005515, GO:0004521, GO:0004521, metal ion binding, protein binding, endoribonuclease activity, endoribonuclease activity, GO:0090502, GO:0030490, GO:0007601, GO:0006364, GO:0000469, RNA phosphodiester bond hydrolysis, endonucleolytic, maturation of SSU-rRNA, visual perception, rRNA processing, cleavage involved in rRNA processing, 17 11 30 68 37 51 50 19 27 ENSG00000141127 chr17 18840085 18931287 + PRPSAP2 protein_coding This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 5636 GO:0005737, GO:0002189, cytoplasm, ribose phosphate diphosphokinase complex, GO:0042802, GO:0005515, GO:0004857, GO:0004749, GO:0000287, identical protein binding, protein binding, enzyme inhibitor activity, ribose phosphate diphosphokinase activity, magnesium ion binding, GO:0060348, GO:0043086, GO:0009116, GO:0006164, GO:0006139, GO:0006015, bone development, negative regulation of catalytic activity, nucleoside metabolic process, purine nucleotide biosynthetic process, nucleobase-containing compound metabolic process, 5-phosphoribose 1-diphosphate biosynthetic process, 75 51 84 67 77 87 71 76 65 ENSG00000141161 chr17 35147817 35189345 + UNC45B protein_coding This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 146862 GO:0005829, cytosol, GO:0051879, GO:0005515, Hsp90 protein binding, protein binding, GO:0061077, GO:0030154, GO:0007517, GO:0002088, chaperone-mediated protein folding, cell differentiation, muscle organ development, lens development in camera-type eye, 1 0 0 2 0 20 1 1 11 ENSG00000141179 chr17 55750979 55842830 + PCTP protein_coding 58488 GO:0005829, GO:0005829, cytosol, cytosol, GO:0031210, GO:0031210, GO:0008525, GO:0008525, GO:0008525, GO:0005515, phosphatidylcholine binding, phosphatidylcholine binding, phosphatidylcholine transporter activity, phosphatidylcholine transporter activity, phosphatidylcholine transporter activity, protein binding, GO:0120163, GO:0015914, GO:0006869, GO:0006656, negative regulation of cold-induced thermogenesis, phospholipid transport, lipid transport, phosphatidylcholine biosynthetic process, 328 516 717 97 371 196 104 259 194 ENSG00000141194 chr17 58148449 58159555 + OR4D1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26689 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 1 1 0 8 0 3 0 ENSG00000141198 chr17 54899387 54961956 + TOM1L1 protein_coding 10040 GO:0070062, GO:0016020, GO:0010008, GO:0005829, GO:0005795, GO:0005768, GO:0005768, GO:0005764, GO:0005737, extracellular exosome, membrane, endosome membrane, cytosol, Golgi stack, endosome, endosome, lysosome, cytoplasm, GO:0043130, GO:0030295, GO:0030276, GO:0030276, GO:0019901, GO:0017124, GO:0005515, ubiquitin binding, protein kinase activator activity, clathrin binding, clathrin binding, protein kinase binding, SH3 domain binding, protein binding, GO:2000278, GO:0045839, GO:0043162, GO:0032147, GO:0031954, GO:0007165, GO:0007165, GO:0006886, regulation of DNA biosynthetic process, negative regulation of mitotic nuclear division, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, activation of protein kinase activity, positive regulation of protein autophosphorylation, signal transduction, signal transduction, intracellular protein transport, 4 2 7 4 2 11 5 2 7 ENSG00000141200 chr17 53822901 53825213 + KIF2B protein_coding 84643 GO:0072686, GO:0045171, GO:0015630, GO:0005874, GO:0005871, GO:0005829, GO:0005819, GO:0005813, GO:0005730, GO:0000777, mitotic spindle, intercellular bridge, microtubule cytoskeleton, microtubule, kinesin complex, cytosol, spindle, centrosome, nucleolus, condensed chromosome kinetochore, GO:0016887, GO:0008017, GO:0005524, GO:0003777, ATPase activity, microtubule binding, ATP binding, microtubule motor activity, GO:0051983, GO:0051310, GO:0051301, GO:0019886, GO:0007019, GO:0007019, GO:0007018, GO:0007018, GO:0006890, regulation of chromosome segregation, metaphase plate congression, cell division, antigen processing and presentation of exogenous peptide antigen via MHC class II, microtubule depolymerization, microtubule depolymerization, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 0 0 0 0 0 0 0 0 0 ENSG00000141219 chr17 73232233 73248947 + C17orf80 protein_coding 55028 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 77 60 71 65 68 81 61 57 52 ENSG00000141232 chr17 50862223 50867978 - TOB1 protein_coding This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 10140 GO:0030014, GO:0005737, GO:0005634, CCR4-NOT complex, cytoplasm, nucleus, GO:0046332, GO:0030971, GO:0005515, GO:0003714, SMAD binding, receptor tyrosine kinase binding, protein binding, transcription corepressor activity, GO:1903507, GO:1900153, GO:0060390, GO:0060213, GO:0060212, GO:0045668, GO:0030514, GO:0017148, GO:0010468, GO:0008285, negative regulation of nucleic acid-templated transcription, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, regulation of SMAD protein signal transduction, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, negative regulation of nuclear-transcribed mRNA poly(A) tail shortening, negative regulation of osteoblast differentiation, negative regulation of BMP signaling pathway, negative regulation of translation, regulation of gene expression, negative regulation of cell population proliferation, 398 577 506 726 1903 1667 751 1079 1289 ENSG00000141252 chr17 508668 721717 - VPS53 protein_coding This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008]. 55275 GO:1990745, GO:0055037, GO:0048471, GO:0032588, GO:0016020, GO:0010008, GO:0005829, GO:0005794, GO:0000938, GO:0000938, EARP complex, recycling endosome, perinuclear region of cytoplasm, trans-Golgi network membrane, membrane, endosome membrane, cytosol, Golgi apparatus, GARP complex, GARP complex, GO:0005515, protein binding, GO:0042147, GO:0042147, GO:0032456, GO:0015031, GO:0007041, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, endocytic recycling, protein transport, lysosomal transport, 656 836 562 669 918 617 733 735 589 ENSG00000141255 chr17 3440019 3513852 - SPATA22 protein_coding 84690 GO:0005694, chromosome, GO:0005515, protein binding, GO:0051445, GO:0007276, GO:0007129, GO:0000711, regulation of meiotic cell cycle, gamete generation, homologous chromosome pairing at meiosis, meiotic DNA repair synthesis, 0 0 0 0 0 0 0 0 0 ENSG00000141258 chr17 2337498 2381058 + SGSM2 protein_coding The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]. 9905 GO:0042470, GO:0005737, melanosome, cytoplasm, GO:0031267, GO:0031267, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0043547, GO:0034499, GO:0006886, activation of GTPase activity, positive regulation of GTPase activity, late endosome to Golgi transport, intracellular protein transport, 437 416 504 453 395 439 526 299 340 ENSG00000141279 chr17 47522942 47623276 + NPEPPS protein_coding This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008]. 9520 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytosol, cytoplasm, nucleus, GO:0070006, GO:0042277, GO:0008270, GO:0004177, metalloaminopeptidase activity, peptide binding, zinc ion binding, aminopeptidase activity, GO:1903955, GO:0071456, GO:0043171, GO:0006508, GO:0000209, positive regulation of protein targeting to mitochondrion, cellular response to hypoxia, peptide catabolic process, proteolysis, protein polyubiquitination, 2218 1927 2478 1685 2270 1864 1946 1596 1656 ENSG00000141293 chr17 48133440 48430275 - SKAP1 protein_coding This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]. 8631 GO:0044853, GO:0042101, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0001772, plasma membrane raft, T cell receptor complex, cell-cell junction, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, immunological synapse, GO:0044877, GO:0042169, GO:0019903, GO:0019901, GO:0017124, GO:0005515, protein-containing complex binding, SH2 domain binding, protein phosphatase binding, protein kinase binding, SH3 domain binding, protein binding, GO:1903039, GO:0072659, GO:0050852, GO:0045944, GO:0045944, GO:0045893, GO:0034116, GO:0033634, GO:0033625, GO:0002821, GO:0002250, GO:0001954, positive regulation of leukocyte cell-cell adhesion, protein localization to plasma membrane, T cell receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of heterotypic cell-cell adhesion, positive regulation of cell-cell adhesion mediated by integrin, positive regulation of integrin activation, positive regulation of adaptive immune response, adaptive immune response, positive regulation of cell-matrix adhesion, 52 28 96 191 69 226 109 67 139 ENSG00000141294 chr17 47831627 47837713 + LRRC46 protein_coding 90506 11 7 23 9 15 13 12 14 12 ENSG00000141295 chr17 47837692 47841333 - SCRN2 protein_coding 90507 GO:0070062, extracellular exosome, GO:0070004, GO:0016805, GO:0005515, GO:0003674, cysteine-type exopeptidase activity, dipeptidase activity, protein binding, molecular_function, GO:0008150, GO:0006508, biological_process, proteolysis, 35 35 39 44 41 56 58 28 54 ENSG00000141298 chr17 29625938 29930276 - SSH2 protein_coding This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 85464 GO:0005856, GO:0005737, GO:0005615, cytoskeleton, cytoplasm, extracellular space, GO:0106307, GO:0106306, GO:0008138, GO:0004725, GO:0004721, GO:0004721, GO:0003779, GO:0003779, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, phosphoprotein phosphatase activity, actin binding, actin binding, GO:0035335, GO:0030837, GO:0030036, GO:0030036, GO:0006470, peptidyl-tyrosine dephosphorylation, negative regulation of actin filament polymerization, actin cytoskeleton organization, actin cytoskeleton organization, protein dephosphorylation, 13835 14559 13741 10616 15691 11788 12177 10484 9347 ENSG00000141314 chr17 32266176 32324661 + RHBDL3 protein_coding 162494 GO:0016021, integral component of membrane, GO:0005509, GO:0004252, calcium ion binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 1 0 0 ENSG00000141316 chr17 32970376 32997877 + SPACA3 protein_coding The protein encoded by this gene is a sperm surface protein that may be involved in adhesion to the egg prior to fertilization. While the encoded protein has significant similarity to lysozyme at the amino acid level, it has no detectable bacteriocidal activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 124912 GO:0043159, GO:0036126, GO:0030141, GO:0016021, GO:0005576, GO:0002080, GO:0001669, acrosomal matrix, sperm flagellum, secretory granule, integral component of membrane, extracellular region, acrosomal membrane, acrosomal vesicle, GO:0005515, GO:0003796, protein binding, lysozyme activity, GO:0050766, GO:0043032, GO:0042117, GO:0035036, GO:0007342, GO:0007342, positive regulation of phagocytosis, positive regulation of macrophage activation, monocyte activation, sperm-egg recognition, fusion of sperm to egg plasma membrane involved in single fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000141337 chr17 68259182 68422731 + ARSG protein_coding The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]. 22901 GO:0005788, GO:0005783, GO:0005764, GO:0005615, endoplasmic reticulum lumen, endoplasmic reticulum, lysosome, extracellular space, GO:0046872, GO:0004065, GO:0004065, GO:0004065, GO:0004065, metal ion binding, arylsulfatase activity, arylsulfatase activity, arylsulfatase activity, arylsulfatase activity, GO:0006790, sulfur compound metabolic process, 440 605 875 231 484 399 271 344 403 ENSG00000141338 chr17 68867292 68955392 - ABCA8 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 10351 GO:0043231, GO:0016021, GO:0005886, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, GO:0042626, GO:0042626, GO:0005524, GO:0005319, ATPase-coupled transmembrane transporter activity, ATPase-coupled transmembrane transporter activity, ATP binding, lipid transporter activity, GO:0055085, GO:0006869, transmembrane transport, lipid transport, 0 0 0 0 0 0 0 0 0 ENSG00000141349 chr17 44070735 44076344 + G6PC3 protein_coding This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 92579 GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0004346, GO:0004346, GO:0004346, glucose-6-phosphatase activity, glucose-6-phosphatase activity, glucose-6-phosphatase activity, GO:0051156, GO:0016311, GO:0015760, GO:0006094, GO:0006094, GO:0006094, glucose 6-phosphate metabolic process, dephosphorylation, glucose-6-phosphate transport, gluconeogenesis, gluconeogenesis, gluconeogenesis, 11 10 10 15 24 21 25 6 17 ENSG00000141367 chr17 59619689 59696956 + CLTC protein_coding Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]. 1213 GO:1990498, GO:1903561, GO:0072686, GO:0071439, GO:0071439, GO:0070062, GO:0045334, GO:0045334, GO:0042470, GO:0036020, GO:0032991, GO:0032588, GO:0030669, GO:0030136, GO:0030132, GO:0030130, GO:0030118, GO:0030118, GO:0016020, GO:0005925, GO:0005886, GO:0005829, GO:0005819, GO:0005819, GO:0005768, GO:0005764, mitotic spindle microtubule, extracellular vesicle, mitotic spindle, clathrin complex, clathrin complex, extracellular exosome, clathrin-coated endocytic vesicle, clathrin-coated endocytic vesicle, melanosome, endolysosome membrane, protein-containing complex, trans-Golgi network membrane, clathrin-coated endocytic vesicle membrane, clathrin-coated vesicle, clathrin coat of coated pit, clathrin coat of trans-Golgi network vesicle, clathrin coat, clathrin coat, membrane, focal adhesion, plasma membrane, cytosol, spindle, spindle, endosome, lysosome, GO:1990381, GO:0097718, GO:0050750, GO:0032051, GO:0032051, GO:0019901, GO:0005515, GO:0005198, GO:0003725, GO:0003723, ubiquitin-specific protease binding, disordered domain specific binding, low-density lipoprotein particle receptor binding, clathrin light chain binding, clathrin light chain binding, protein kinase binding, protein binding, structural molecule activity, double-stranded RNA binding, RNA binding, GO:1903077, GO:1900126, GO:1900126, GO:0150093, GO:0072583, GO:0061024, GO:0060236, GO:0060071, GO:0051301, GO:0048268, GO:0048268, GO:0042147, GO:0034383, GO:0033572, GO:0032802, GO:0031623, GO:0019886, GO:0006914, GO:0006898, GO:0006898, GO:0006886, GO:0001649, GO:0000278, GO:0000278, negative regulation of protein localization to plasma membrane, negative regulation of hyaluronan biosynthetic process, negative regulation of hyaluronan biosynthetic process, amyloid-beta clearance by transcytosis, clathrin-dependent endocytosis, membrane organization, regulation of mitotic spindle organization, Wnt signaling pathway, planar cell polarity pathway, cell division, clathrin coat assembly, clathrin coat assembly, retrograde transport, endosome to Golgi, low-density lipoprotein particle clearance, transferrin transport, low-density lipoprotein particle receptor catabolic process, receptor internalization, antigen processing and presentation of exogenous peptide antigen via MHC class II, autophagy, receptor-mediated endocytosis, receptor-mediated endocytosis, intracellular protein transport, osteoblast differentiation, mitotic cell cycle, mitotic cell cycle, 4192 3698 5022 1751 2080 1965 1826 1705 1511 ENSG00000141371 chr17 60392429 60431421 + C17orf64 protein_coding 124773 0 2 0 0 0 2 2 0 0 ENSG00000141376 chr17 60677453 61392838 + BCAS3 protein_coding 54828 GO:0071944, GO:0045111, GO:0035327, GO:0031252, GO:0005881, GO:0005737, GO:0005737, GO:0005634, cell periphery, intermediate filament cytoskeleton, transcriptionally active chromatin, cell leading edge, cytoplasmic microtubule, cytoplasm, cytoplasm, nucleus, GO:0048487, GO:0042393, GO:0035257, GO:0035035, GO:0010698, GO:0008134, GO:0005515, GO:0003682, beta-tubulin binding, histone binding, nuclear hormone receptor binding, histone acetyltransferase binding, acetyltransferase activator activity, transcription factor binding, protein binding, chromatin binding, GO:2000251, GO:2000114, GO:0090630, GO:0090316, GO:0071391, GO:0051895, GO:0051491, GO:0045944, GO:0043547, GO:0043085, GO:0042594, GO:0035148, GO:0034260, GO:0031023, GO:0010595, GO:0007030, GO:0001525, positive regulation of actin cytoskeleton reorganization, regulation of establishment of cell polarity, activation of GTPase activity, positive regulation of intracellular protein transport, cellular response to estrogen stimulus, negative regulation of focal adhesion assembly, positive regulation of filopodium assembly, positive regulation of transcription by RNA polymerase II, positive regulation of GTPase activity, positive regulation of catalytic activity, response to starvation, tube formation, negative regulation of GTPase activity, microtubule organizing center organization, positive regulation of endothelial cell migration, Golgi organization, angiogenesis, 312 363 331 186 316 241 259 275 225 ENSG00000141378 chr17 59674636 59707626 - PTRH2 protein_coding The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]. 51651 GO:0016020, GO:0005829, GO:0005829, GO:0005739, GO:0005739, GO:0005739, membrane, cytosol, cytosol, mitochondrion, mitochondrion, mitochondrion, GO:0005515, GO:0004045, GO:0004045, protein binding, aminoacyl-tRNA hydrolase activity, aminoacyl-tRNA hydrolase activity, GO:2000811, GO:2000811, GO:2000210, GO:2000210, GO:0010629, GO:0006915, negative regulation of anoikis, negative regulation of anoikis, positive regulation of anoikis, positive regulation of anoikis, negative regulation of gene expression, apoptotic process, 655 622 836 226 254 338 266 278 238 ENSG00000141380 chr18 26016253 26091217 - SS18 protein_coding 6760 GO:0071564, GO:0016514, GO:0005881, GO:0005634, npBAF complex, SWI/SNF complex, cytoplasmic microtubule, nucleus, GO:0030374, GO:0005515, nuclear receptor coactivator activity, protein binding, GO:0097150, GO:0048013, GO:0045944, GO:0045944, GO:0042493, GO:0035556, GO:0000902, GO:0000226, neuronal stem cell population maintenance, ephrin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, response to drug, intracellular signal transduction, cell morphogenesis, microtubule cytoskeleton organization, 190 132 262 246 122 268 213 111 203 ENSG00000141384 chr18 26225936 26391685 + TAF4B protein_coding TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. 6875 GO:0005737, GO:0005669, GO:0005669, GO:0005654, GO:0005654, GO:0001650, cytoplasm, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, fibrillar center, GO:0051059, GO:0046982, GO:0016251, GO:0016251, GO:0003677, GO:0003677, NF-kappaB binding, protein heterodimerization activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, DNA binding, DNA binding, GO:1901796, GO:0048477, GO:0007283, GO:0006367, GO:0006367, GO:0006366, regulation of signal transduction by p53 class mediator, oogenesis, spermatogenesis, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, 6 2 22 29 16 6 29 8 16 ENSG00000141385 chr18 12328944 12377314 - AFG3L2 protein_coding This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]. 10939 GO:0005745, GO:0005743, GO:0005743, GO:0005743, GO:0005739, m-AAA complex, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0051082, GO:0008270, GO:0008237, GO:0005524, GO:0005515, GO:0004222, GO:0004176, unfolded protein binding, zinc ion binding, metallopeptidase activity, ATP binding, protein binding, metalloendopeptidase activity, ATP-dependent peptidase activity, GO:0065003, GO:0060013, GO:0051560, GO:0048747, GO:0042552, GO:0042407, GO:0040014, GO:0036444, GO:0034982, GO:0033619, GO:0021675, GO:0016540, GO:0016485, GO:0008053, GO:0007528, GO:0007409, GO:0006851, GO:0006508, protein-containing complex assembly, righting reflex, mitochondrial calcium ion homeostasis, muscle fiber development, myelination, cristae formation, regulation of multicellular organism growth, calcium import into the mitochondrion, mitochondrial protein processing, membrane protein proteolysis, nerve development, protein autoprocessing, protein processing, mitochondrial fusion, neuromuscular junction development, axonogenesis, mitochondrial calcium ion transmembrane transport, proteolysis, 104 83 153 123 66 114 65 55 77 ENSG00000141391 chr18 12407896 12432238 + PRELID3A protein_coding 10650 GO:0005758, mitochondrial intermembrane space, GO:1990050, GO:1990050, GO:0005515, phosphatidic acid transfer activity, phosphatidic acid transfer activity, protein binding, GO:0120009, GO:0015914, GO:0015914, intermembrane lipid transfer, phospholipid transport, phospholipid transport, 0 0 0 1 0 0 0 0 0 ENSG00000141401 chr18 11981025 12030883 + IMPA2 protein_coding This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011]. 3613 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0052833, GO:0052832, GO:0046872, GO:0042803, GO:0008934, GO:0008934, GO:0005515, inositol monophosphate 4-phosphatase activity, inositol monophosphate 3-phosphatase activity, metal ion binding, protein homodimerization activity, inositol monophosphate 1-phosphatase activity, inositol monophosphate 1-phosphatase activity, protein binding, GO:0046855, GO:0046855, GO:0046854, GO:0043647, GO:0007165, GO:0006796, GO:0006021, GO:0006020, inositol phosphate dephosphorylation, inositol phosphate dephosphorylation, phosphatidylinositol phosphorylation, inositol phosphate metabolic process, signal transduction, phosphate-containing compound metabolic process, inositol biosynthetic process, inositol metabolic process, 1063 1133 841 374 851 520 666 894 510 ENSG00000141404 chr18 11688956 11885685 + GNAL protein_coding This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 2774 GO:0070062, GO:0005886, GO:0005834, extracellular exosome, plasma membrane, heterotrimeric G-protein complex, GO:0046872, GO:0031683, GO:0005525, GO:0005515, GO:0003924, GO:0001664, metal ion binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activity, G protein-coupled receptor binding, GO:0007606, GO:0007193, GO:0007191, GO:0007189, GO:0007188, GO:0007165, sensory perception of chemical stimulus, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-activating dopamine receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, signal transduction, 525 505 424 371 704 415 489 550 412 ENSG00000141424 chr18 36108532 36129385 - SLC39A6 protein_coding Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]. 25800 GO:0031258, GO:0009986, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005783, lamellipodium membrane, cell surface, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0005385, GO:0005385, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0071578, GO:0071578, GO:0071577, GO:0006882, GO:0006882, zinc ion import across plasma membrane, zinc ion import across plasma membrane, zinc ion transmembrane transport, cellular zinc ion homeostasis, cellular zinc ion homeostasis, 309 280 308 154 207 195 158 140 122 ENSG00000141425 chr18 35984387 36067576 - RPRD1A protein_coding This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]. 55197 GO:0016591, GO:0016591, GO:0005654, RNA polymerase II, holoenzyme, RNA polymerase II, holoenzyme, nucleoplasm, GO:0005515, GO:0000993, protein binding, RNA polymerase II complex binding, GO:0070940, GO:0042795, GO:0031124, dephosphorylation of RNA polymerase II C-terminal domain, snRNA transcription by RNA polymerase II, mRNA 3'-end processing, 319 309 323 260 329 314 281 245 236 ENSG00000141428 chr18 35972083 35979286 + C18orf21 protein_coding 83608 45 23 52 26 33 27 38 35 37 ENSG00000141429 chr18 35581117 35711834 + GALNT1 protein_coding This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]. 2589 GO:0048471, GO:0032580, GO:0016021, GO:0016020, GO:0005794, GO:0005789, GO:0005576, GO:0000139, perinuclear region of cytoplasm, Golgi cisterna membrane, integral component of membrane, membrane, Golgi apparatus, endoplasmic reticulum membrane, extracellular region, Golgi membrane, GO:0030246, GO:0030145, GO:0004653, carbohydrate binding, manganese ion binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0018243, GO:0018242, GO:0016266, GO:0006493, GO:0006493, protein O-linked glycosylation via threonine, protein O-linked glycosylation via serine, O-glycan processing, protein O-linked glycosylation, protein O-linked glycosylation, 811 566 939 227 287 326 227 286 274 ENSG00000141431 chr18 33578233 33751192 + ASXL3 protein_coding This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]. 80816 GO:0035517, PR-DUB complex, GO:0046872, GO:0042975, GO:0003682, GO:0003677, metal ion binding, peroxisome proliferator activated receptor binding, chromatin binding, DNA binding, GO:0051055, GO:0045944, GO:0009887, GO:0006351, negative regulation of lipid biosynthetic process, positive regulation of transcription by RNA polymerase II, animal organ morphogenesis, transcription, DNA-templated, 0 0 1 0 0 0 0 0 0 ENSG00000141433 chr18 904943 912172 + ADCYAP1 protein_coding This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]. 116 GO:0043204, GO:0043195, GO:0043005, GO:0005615, GO:0005576, perikaryon, terminal bouton, neuron projection, extracellular space, extracellular region, GO:0051428, GO:0051428, GO:0051428, GO:0031858, GO:0016521, GO:0016521, GO:0005515, GO:0005184, GO:0005184, GO:0005102, peptide hormone receptor binding, peptide hormone receptor binding, peptide hormone receptor binding, pituitary adenylate cyclase-activating polypeptide receptor binding, pituitary adenylate cyclase activating polypeptide activity, pituitary adenylate cyclase activating polypeptide activity, protein binding, neuropeptide hormone activity, neuropeptide hormone activity, signaling receptor binding, GO:0120162, GO:0097755, GO:0090274, GO:0071651, GO:0071385, GO:0070445, GO:0070374, GO:0070374, GO:0060253, GO:0060124, GO:0060078, GO:0051968, GO:0046034, GO:0045944, GO:0045944, GO:0045860, GO:0045860, GO:0045786, GO:0045471, GO:0043950, GO:0043547, GO:0043547, GO:0043267, GO:0042594, GO:0034260, GO:0032880, GO:0032880, GO:0032755, GO:0031175, GO:0031175, GO:0030073, GO:0021983, GO:0019933, GO:0019233, GO:0010976, GO:0010656, GO:0008284, GO:0008277, GO:0007565, GO:0007267, GO:0007218, GO:0007218, GO:0007204, GO:0007190, GO:0007189, GO:0007189, GO:0007186, GO:0002878, GO:0002865, GO:0001821, GO:0001662, GO:0001541, positive regulation of cold-induced thermogenesis, positive regulation of blood vessel diameter, positive regulation of somatostatin secretion, positive regulation of chemokine (C-C motif) ligand 5 production, cellular response to glucocorticoid stimulus, regulation of oligodendrocyte progenitor proliferation, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of glial cell proliferation, positive regulation of growth hormone secretion, regulation of postsynaptic membrane potential, positive regulation of synaptic transmission, glutamatergic, ATP metabolic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of protein kinase activity, positive regulation of protein kinase activity, negative regulation of cell cycle, response to ethanol, positive regulation of cAMP-mediated signaling, positive regulation of GTPase activity, positive regulation of GTPase activity, negative regulation of potassium ion transport, response to starvation, negative regulation of GTPase activity, regulation of protein localization, regulation of protein localization, positive regulation of interleukin-6 production, neuron projection development, neuron projection development, insulin secretion, pituitary gland development, cAMP-mediated signaling, sensory perception of pain, positive regulation of neuron projection development, negative regulation of muscle cell apoptotic process, positive regulation of cell population proliferation, regulation of G protein-coupled receptor signaling pathway, female pregnancy, cell-cell signaling, neuropeptide signaling pathway, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, negative regulation of acute inflammatory response to non-antigenic stimulus, negative regulation of acute inflammatory response to antigenic stimulus, histamine secretion, behavioral fear response, ovarian follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000141434 chr18 32185069 32220404 + MEP1B protein_coding Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]. 4225 GO:0017090, GO:0005887, GO:0005576, meprin A complex, integral component of plasma membrane, extracellular region, GO:0042802, GO:0008270, GO:0005515, GO:0004222, identical protein binding, zinc ion binding, protein binding, metalloendopeptidase activity, GO:1901998, GO:0006954, GO:0006508, toxin transport, inflammatory response, proteolysis, 1 1 2 3 0 0 0 0 0 ENSG00000141437 chr18 31759562 31760880 - SLC25A52 protein_coding This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008]. 147407 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0051724, NAD transmembrane transporter activity, GO:1990549, mitochondrial NAD transmembrane transport, 0 0 3 0 0 0 0 2 3 ENSG00000141441 chr18 32124877 32470484 - GAREM1 protein_coding This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 64762 GO:0005886, plasma membrane, GO:0070064, GO:0070064, GO:0005515, proline-rich region binding, proline-rich region binding, protein binding, GO:0071364, GO:0071364, GO:0070374, GO:0051781, GO:0008284, GO:0007173, GO:0007173, cellular response to epidermal growth factor stimulus, cellular response to epidermal growth factor stimulus, positive regulation of ERK1 and ERK2 cascade, positive regulation of cell division, positive regulation of cell population proliferation, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, 6 10 5 16 47 78 38 26 65 ENSG00000141446 chr18 21529281 21600884 - ESCO1 protein_coding ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]. 114799 GO:0005694, GO:0005654, GO:0000785, chromosome, nucleoplasm, chromatin, GO:0061733, GO:0016407, GO:0008270, GO:0008080, peptide-lysine-N-acetyltransferase activity, acetyltransferase activity, zinc ion binding, N-acetyltransferase activity, GO:0034421, GO:0034421, GO:0018394, GO:0007062, GO:0006275, GO:0006275, post-translational protein acetylation, post-translational protein acetylation, peptidyl-lysine acetylation, sister chromatid cohesion, regulation of DNA replication, regulation of DNA replication, 1168 868 1233 1699 1538 1840 1581 1072 1108 ENSG00000141447 chr18 24162044 24397880 - OSBPL1A protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]. 114876 GO:0070062, GO:0044232, GO:0043231, GO:0016020, GO:0005829, GO:0005829, GO:0005770, GO:0005768, extracellular exosome, organelle membrane contact site, intracellular membrane-bounded organelle, membrane, cytosol, cytosol, late endosome, endosome, GO:0032934, GO:0015485, GO:0015248, GO:0005543, GO:0005515, sterol binding, cholesterol binding, sterol transporter activity, phospholipid binding, protein binding, GO:0019886, GO:0016192, GO:0015918, GO:0008203, GO:0006699, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, sterol transport, cholesterol metabolic process, bile acid biosynthetic process, 71 29 77 35 38 47 37 33 32 ENSG00000141448 chr18 22169443 22202528 + GATA6 protein_coding This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]. 2627 GO:0031965, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, nuclear membrane, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0019901, GO:0008270, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0001103, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein kinase binding, zinc ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, RNA polymerase II repressing transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0110024, GO:0071773, GO:0071456, GO:0071371, GO:0071158, GO:0070848, GO:0060947, GO:0060575, GO:0060510, GO:0060486, GO:0060430, GO:0060045, GO:0055007, GO:0051891, GO:0051145, GO:0048645, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045766, GO:0045165, GO:0044267, GO:0043627, GO:0043066, GO:0042493, GO:0035239, GO:0032912, GO:0032911, GO:0030855, GO:0014898, GO:0008584, GO:0007596, GO:0007493, GO:0006644, GO:0003310, GO:0003309, GO:0003148, GO:0001889, GO:0001701, GO:0000122, GO:0000122, positive regulation of cardiac muscle myoblast proliferation, cellular response to BMP stimulus, cellular response to hypoxia, cellular response to gonadotropin stimulus, positive regulation of cell cycle arrest, response to growth factor, cardiac vascular smooth muscle cell differentiation, intestinal epithelial cell differentiation, type II pneumocyte differentiation, club cell differentiation, lung saccule development, positive regulation of cardiac muscle cell proliferation, cardiac muscle cell differentiation, positive regulation of cardioblast differentiation, smooth muscle cell differentiation, animal organ formation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of angiogenesis, cell fate commitment, cellular protein metabolic process, response to estrogen, negative regulation of apoptotic process, response to drug, tube morphogenesis, negative regulation of transforming growth factor beta2 production, negative regulation of transforming growth factor beta1 production, epithelial cell differentiation, cardiac muscle hypertrophy in response to stress, male gonad development, blood coagulation, endodermal cell fate determination, phospholipid metabolic process, pancreatic A cell differentiation, type B pancreatic cell differentiation, outflow tract septum morphogenesis, liver development, in utero embryonic development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 5 1 2 3 0 0 0 0 0 ENSG00000141449 chr18 21242242 21525417 + GREB1L protein_coding 80000 GO:0016021, integral component of membrane, GO:0072177, GO:0061205, GO:0060065, GO:0030539, GO:0007275, GO:0003231, GO:0001822, GO:0001822, GO:0001822, GO:0001658, GO:0001656, mesonephric duct development, paramesonephric duct development, uterus development, male genitalia development, multicellular organism development, cardiac ventricle development, kidney development, kidney development, kidney development, branching involved in ureteric bud morphogenesis, metanephros development, 2 8 5 9 5 15 6 5 3 ENSG00000141452 chr18 23503470 23531807 + RMC1 protein_coding This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]. 29919 GO:0035658, GO:0035658, GO:0031902, GO:0031902, GO:0005765, Mon1-Ccz1 complex, Mon1-Ccz1 complex, late endosome membrane, late endosome membrane, lysosomal membrane, GO:0005515, protein binding, GO:0010506, GO:0010506, GO:0006914, regulation of autophagy, regulation of autophagy, autophagy, 333 301 341 429 513 468 467 362 379 ENSG00000141456 chr17 4669774 4704337 - PELP1 protein_coding This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 27043 GO:0071339, GO:0035327, GO:0005737, GO:0005730, GO:0005654, GO:0005654, MLL1 complex, transcriptionally active chromatin, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, GO:0008134, GO:0005515, GO:0003723, GO:0003682, transcription factor binding, protein binding, RNA binding, chromatin binding, GO:0071391, GO:0045944, GO:0006364, cellular response to estrogen stimulus, positive regulation of transcription by RNA polymerase II, rRNA processing, 49 38 89 116 38 137 80 36 67 ENSG00000141458 chr18 23506184 23586898 - NPC1 protein_coding This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]. 4864 GO:1905103, GO:0070062, GO:0048471, GO:0045121, GO:0031902, GO:0016021, GO:0016020, GO:0005887, GO:0005794, GO:0005783, GO:0005765, GO:0005765, GO:0005764, GO:0005635, GO:0005576, integral component of lysosomal membrane, extracellular exosome, perinuclear region of cytoplasm, membrane raft, late endosome membrane, integral component of membrane, membrane, integral component of plasma membrane, Golgi apparatus, endoplasmic reticulum, lysosomal membrane, lysosomal membrane, lysosome, nuclear envelope, extracellular region, GO:0038023, GO:0015485, GO:0015248, GO:0005515, GO:0004888, GO:0001618, signaling receptor activity, cholesterol binding, sterol transporter activity, protein binding, transmembrane signaling receptor activity, virus receptor activity, GO:0090150, GO:0071404, GO:0071383, GO:0060548, GO:0046718, GO:0046686, GO:0042632, GO:0042632, GO:0042632, GO:0042493, GO:0034383, GO:0033344, GO:0032367, GO:0031579, GO:0030301, GO:0016242, GO:0008206, GO:0008203, GO:0007628, GO:0007041, GO:0006914, GO:0006897, GO:0006486, establishment of protein localization to membrane, cellular response to low-density lipoprotein particle stimulus, cellular response to steroid hormone stimulus, negative regulation of cell death, viral entry into host cell, response to cadmium ion, cholesterol homeostasis, cholesterol homeostasis, cholesterol homeostasis, response to drug, low-density lipoprotein particle clearance, cholesterol efflux, intracellular cholesterol transport, membrane raft organization, cholesterol transport, negative regulation of macroautophagy, bile acid metabolic process, cholesterol metabolic process, adult walking behavior, lysosomal transport, autophagy, endocytosis, protein glycosylation, 501 438 613 516 518 534 488 367 387 ENSG00000141469 chr18 45687025 45752520 + SLC14A1 protein_coding The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]. 6563 GO:0016323, GO:0005887, GO:0005886, GO:0005886, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015265, GO:0005372, urea channel activity, water transmembrane transporter activity, GO:0071918, GO:0071918, GO:0055085, GO:0006833, urea transmembrane transport, urea transmembrane transport, transmembrane transport, water transport, 8 7 23 25 2 44 23 3 24 ENSG00000141480 chr17 4710489 4721499 + ARRB2 protein_coding Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]. 409 GO:0045211, GO:0043231, GO:0043197, GO:0031410, GO:0030139, GO:0016323, GO:0014069, GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005768, GO:0005737, GO:0005737, GO:0005634, postsynaptic membrane, intracellular membrane-bounded organelle, dendritic spine, cytoplasmic vesicle, endocytic vesicle, basolateral plasma membrane, postsynaptic density, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, endosome, cytoplasm, cytoplasm, nucleus, GO:1990763, GO:0071889, GO:0060090, GO:0051019, GO:0044877, GO:0043422, GO:0042802, GO:0031859, GO:0031826, GO:0031762, GO:0031748, GO:0031702, GO:0031701, GO:0031701, GO:0031692, GO:0031691, GO:0031625, GO:0019904, GO:0019899, GO:0005515, GO:0005102, GO:0001664, GO:0001664, arrestin family protein binding, 14-3-3 protein binding, molecular adaptor activity, mitogen-activated protein kinase binding, protein-containing complex binding, protein kinase B binding, identical protein binding, platelet activating factor receptor binding, type 2A serotonin receptor binding, follicle-stimulating hormone receptor binding, D1 dopamine receptor binding, type 1 angiotensin receptor binding, angiotensin receptor binding, angiotensin receptor binding, alpha-1B adrenergic receptor binding, alpha-1A adrenergic receptor binding, ubiquitin protein ligase binding, protein domain specific binding, enzyme binding, protein binding, signaling receptor binding, G protein-coupled receptor binding, G protein-coupled receptor binding, GO:2000727, GO:2000573, GO:1904037, GO:0090201, GO:0070374, GO:0070374, GO:0070374, GO:0061024, GO:0060765, GO:0060326, GO:0060079, GO:0060071, GO:0051928, GO:0051898, GO:0051897, GO:0050965, GO:0050731, GO:0045953, GO:0043524, GO:0043161, GO:0043154, GO:0042699, GO:0034392, GO:0034260, GO:0034122, GO:0033138, GO:0032967, GO:0032720, GO:0032715, GO:0032695, GO:0032691, GO:0032226, GO:0032088, GO:0031623, GO:0031398, GO:0031397, GO:0030168, GO:0016579, GO:0016567, GO:0015031, GO:0010628, GO:0007628, GO:0007420, GO:0007212, GO:0007186, GO:0007179, GO:0006366, GO:0002092, GO:0002032, GO:0002031, GO:0002031, GO:0002031, GO:0002031, GO:0001933, positive regulation of cardiac muscle cell differentiation, positive regulation of DNA biosynthetic process, positive regulation of epithelial cell apoptotic process, negative regulation of release of cytochrome c from mitochondria, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, membrane organization, regulation of androgen receptor signaling pathway, cell chemotaxis, excitatory postsynaptic potential, Wnt signaling pathway, planar cell polarity pathway, positive regulation of calcium ion transport, negative regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, detection of temperature stimulus involved in sensory perception of pain, positive regulation of peptidyl-tyrosine phosphorylation, negative regulation of natural killer cell mediated cytotoxicity, negative regulation of neuron apoptotic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, follicle-stimulating hormone signaling pathway, negative regulation of smooth muscle cell apoptotic process, negative regulation of GTPase activity, negative regulation of toll-like receptor signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of collagen biosynthetic process, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-12 production, negative regulation of interleukin-1 beta production, positive regulation of synaptic transmission, dopaminergic, negative regulation of NF-kappaB transcription factor activity, receptor internalization, positive regulation of protein ubiquitination, negative regulation of protein ubiquitination, platelet activation, protein deubiquitination, protein ubiquitination, protein transport, positive regulation of gene expression, adult walking behavior, brain development, dopamine receptor signaling pathway, G protein-coupled receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transcription by RNA polymerase II, positive regulation of receptor internalization, desensitization of G protein-coupled receptor signaling pathway by arrestin, G protein-coupled receptor internalization, G protein-coupled receptor internalization, G protein-coupled receptor internalization, G protein-coupled receptor internalization, negative regulation of protein phosphorylation, 10346 11343 13534 7393 12038 10423 8087 9314 9161 ENSG00000141485 chr17 6684713 6713567 - SLC13A5 protein_coding This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. 284111 GO:0016021, GO:0005886, GO:0005886, GO:0005829, GO:0005654, integral component of membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, GO:0017153, GO:0015141, GO:0015137, GO:0015137, GO:0015137, GO:0005515, sodium:dicarboxylate symporter activity, succinate transmembrane transporter activity, citrate transmembrane transporter activity, citrate transmembrane transporter activity, citrate transmembrane transporter activity, protein binding, GO:0098656, GO:0071422, GO:0035674, GO:0015746, GO:0015746, GO:0006814, anion transmembrane transport, succinate transmembrane transport, tricarboxylic acid transmembrane transport, citrate transport, citrate transport, sodium ion transport, 5 1 1 2 11 2 8 7 5 ENSG00000141497 chr17 4740015 4746119 + ZMYND15 protein_coding This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]. 84225 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0042826, metal ion binding, histone deacetylase binding, GO:0045892, GO:0007286, negative regulation of transcription, DNA-templated, spermatid development, 63 164 53 27 95 97 89 105 93 ENSG00000141499 chr17 7686071 7703502 + WRAP53 protein_coding This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]. 55135 GO:0035861, GO:0016604, GO:0015030, GO:0015030, GO:0015030, GO:0005829, GO:0005697, GO:0005654, GO:0000781, site of double-strand break, nuclear body, Cajal body, Cajal body, Cajal body, cytosol, telomerase holoenzyme complex, nucleoplasm, chromosome, telomeric region, GO:0070034, GO:0070034, GO:0051087, GO:0044877, GO:0042802, GO:0042393, GO:0031625, GO:0005515, GO:0003723, GO:0003723, GO:0003723, telomerase RNA binding, telomerase RNA binding, chaperone binding, protein-containing complex binding, identical protein binding, histone binding, ubiquitin protein ligase binding, protein binding, RNA binding, RNA binding, RNA binding, GO:2001034, GO:2000781, GO:1905168, GO:1904867, GO:1904867, GO:1904851, GO:0090671, GO:0090671, GO:0090666, GO:0090666, GO:0051973, GO:0051973, GO:0045739, GO:0034337, GO:0032203, GO:0030576, GO:0030576, GO:0016032, GO:0007004, GO:0007004, GO:0007004, GO:0006281, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of double-strand break repair, positive regulation of double-strand break repair via homologous recombination, protein localization to Cajal body, protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, telomerase RNA localization to Cajal body, telomerase RNA localization to Cajal body, scaRNA localization to Cajal body, scaRNA localization to Cajal body, positive regulation of telomerase activity, positive regulation of telomerase activity, positive regulation of DNA repair, RNA folding, telomere formation via telomerase, Cajal body organization, Cajal body organization, viral process, telomere maintenance via telomerase, telomere maintenance via telomerase, telomere maintenance via telomerase, DNA repair, 43 49 51 49 48 79 40 47 50 ENSG00000141503 chr17 4833388 4898061 + MINK1 protein_coding This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]. 50488 GO:0070062, GO:0030425, GO:0030424, GO:0014069, GO:0005829, GO:0005794, GO:0005737, GO:0005737, extracellular exosome, dendrite, axon, postsynaptic density, cytosol, Golgi apparatus, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000311, GO:1900745, GO:0048813, GO:0048812, GO:0046777, GO:0046330, GO:0046330, GO:0032147, GO:0031532, GO:0031532, GO:0031098, GO:0030334, GO:0030033, GO:0023014, GO:0022407, GO:0007275, GO:0007268, GO:0007254, GO:0006468, GO:0006468, GO:0001952, GO:0000165, regulation of AMPA receptor activity, positive regulation of p38MAPK cascade, dendrite morphogenesis, neuron projection morphogenesis, protein autophosphorylation, positive regulation of JNK cascade, positive regulation of JNK cascade, activation of protein kinase activity, actin cytoskeleton reorganization, actin cytoskeleton reorganization, stress-activated protein kinase signaling cascade, regulation of cell migration, microvillus assembly, signal transduction by protein phosphorylation, regulation of cell-cell adhesion, multicellular organism development, chemical synaptic transmission, JNK cascade, protein phosphorylation, protein phosphorylation, regulation of cell-matrix adhesion, MAPK cascade, 701 744 941 660 541 655 698 448 592 ENSG00000141504 chr17 7626234 7627876 - SAT2 protein_coding 112483 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0042802, GO:0019809, GO:0008080, GO:0008080, GO:0005515, GO:0004145, GO:0004145, GO:0004145, identical protein binding, spermidine binding, N-acetyltransferase activity, N-acetyltransferase activity, protein binding, diamine N-acetyltransferase activity, diamine N-acetyltransferase activity, diamine N-acetyltransferase activity, GO:0046204, GO:0032920, GO:0032919, GO:0032918, GO:0032918, GO:0032918, GO:0006596, nor-spermidine metabolic process, putrescine acetylation, spermine acetylation, spermidine acetylation, spermidine acetylation, spermidine acetylation, polyamine biosynthetic process, 47 93 59 86 125 83 64 93 45 ENSG00000141505 chr17 7173431 7179564 - ASGR1 protein_coding This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 432 GO:0005887, GO:0005886, GO:0005576, integral component of plasma membrane, plasma membrane, extracellular region, GO:0046872, GO:0030246, GO:0005515, GO:0004873, metal ion binding, carbohydrate binding, protein binding, asialoglycoprotein receptor activity, GO:0031668, GO:0018279, GO:0016032, GO:0006898, cellular response to extracellular stimulus, protein N-linked glycosylation via asparagine, viral process, receptor-mediated endocytosis, 0 0 3 5 3 8 4 2 3 ENSG00000141506 chr17 8878911 8965712 - PIK3R5 protein_coding Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]. 23533 GO:0034451, GO:0016020, GO:0005944, GO:0005942, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005634, centriolar satellite, membrane, phosphatidylinositol 3-kinase complex, class IB, phosphatidylinositol 3-kinase complex, plasma membrane, cytosol, cytosol, cytoplasm, nucleus, GO:0046935, GO:0031683, 1-phosphatidylinositol-3-kinase regulator activity, G-protein beta/gamma-subunit complex binding, GO:0051897, GO:0043551, GO:0043406, GO:0043406, GO:0030168, GO:0014068, GO:0014065, GO:0007186, GO:0007186, GO:0006661, positive regulation of protein kinase B signaling, regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAP kinase activity, positive regulation of MAP kinase activity, platelet activation, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, phosphatidylinositol biosynthetic process, 4461 4749 8203 3216 5000 4811 3640 3599 3999 ENSG00000141510 chr17 7661779 7687550 - TP53 protein_coding This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]. 7157 GO:0035861, GO:0032991, GO:0032991, GO:0031965, GO:0016605, GO:0016604, GO:0016363, GO:0005829, GO:0005829, GO:0005813, GO:0005783, GO:0005759, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005669, GO:0005667, GO:0005657, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, GO:0000785, site of double-strand break, protein-containing complex, protein-containing complex, nuclear membrane, PML body, nuclear body, nuclear matrix, cytosol, cytosol, centrosome, endoplasmic reticulum, mitochondrial matrix, mitochondrion, cytoplasm, cytoplasm, nucleolus, transcription factor TFIID complex, transcription regulator complex, replication fork, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromatin, chromatin, GO:1990841, GO:0097718, GO:0097371, GO:0051721, GO:0051087, GO:0047485, GO:0046982, GO:0043621, GO:0042826, GO:0042802, GO:0035035, GO:0035033, GO:0031625, GO:0030971, GO:0019903, GO:0019901, GO:0019899, GO:0008270, GO:0008134, GO:0005524, GO:0005515, GO:0005507, GO:0003730, GO:0003700, GO:0003700, GO:0003682, GO:0003677, GO:0003677, GO:0002039, GO:0002020, GO:0001228, GO:0001216, GO:0001094, GO:0001085, GO:0001046, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000976, promoter-specific chromatin binding, disordered domain specific binding, MDM2/MDM4 family protein binding, protein phosphatase 2A binding, chaperone binding, protein N-terminus binding, protein heterodimerization activity, protein self-association, histone deacetylase binding, identical protein binding, histone acetyltransferase binding, histone deacetylase regulator activity, ubiquitin protein ligase binding, receptor tyrosine kinase binding, protein phosphatase binding, protein kinase binding, enzyme binding, zinc ion binding, transcription factor binding, ATP binding, protein binding, copper ion binding, mRNA 3'-UTR binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA binding, p53 binding, protease binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, TFIID-class transcription factor complex binding, RNA polymerase II transcription factor binding, core promoter sequence-specific DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001244, GO:2001244, GO:2000772, GO:2000379, GO:2000378, GO:2000269, GO:1990440, GO:1990248, GO:1990144, GO:1905856, GO:1904024, GO:1903800, GO:1903800, GO:1903799, GO:1902895, GO:1902895, GO:1902749, GO:1902253, GO:1902108, GO:1901796, GO:1901525, GO:1900740, GO:1900119, GO:0097252, GO:0097193, GO:0090403, GO:0090399, GO:0090343, GO:0090200, GO:0072717, GO:0072332, GO:0072331, GO:0071850, GO:0071494, GO:0071480, GO:0071479, GO:0071456, GO:0071158, GO:0071158, GO:0071158, GO:0070266, GO:0070245, GO:0070059, GO:0065003, GO:0062100, GO:0061419, GO:0060411, GO:0060333, GO:0060218, GO:0051974, GO:0051402, GO:0051262, GO:0051097, GO:0050821, GO:0050731, GO:0048568, GO:0048539, GO:0048512, GO:0048147, GO:0046827, GO:0046677, GO:0045944, GO:0045944, GO:0045944, GO:0045899, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045861, GO:0043525, GO:0043516, GO:0043504, GO:0043153, GO:0043066, GO:0043066, GO:0043065, GO:0042981, GO:0042981, GO:0042771, GO:0042771, GO:0042149, GO:0036003, GO:0035794, GO:0035690, GO:0035264, GO:0034644, GO:0034103, GO:0033209, GO:0033077, GO:0031571, GO:0031497, GO:0031065, GO:0030512, GO:0030330, GO:0030330, GO:0030308, GO:0021549, GO:0019221, GO:0016579, GO:0016032, GO:0010666, GO:0010628, GO:0010628, GO:0010628, GO:0010332, GO:0010165, GO:0009651, GO:0009303, GO:0009299, GO:0008340, GO:0008285, GO:0008285, GO:0008285, GO:0008156, GO:0008104, GO:0007569, GO:0007406, GO:0007369, GO:0007265, GO:0007179, GO:0007050, GO:0007050, GO:0006983, GO:0006978, GO:0006978, GO:0006977, GO:0006977, GO:0006974, GO:0006974, GO:0006914, GO:0006606, GO:0006357, GO:0006355, GO:0006355, GO:0006302, GO:0006289, GO:0002931, GO:0002360, GO:0002326, GO:0002309, GO:0002244, GO:0001836, GO:0001756, GO:0001701, GO:0000733, GO:0000122, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, regulation of cellular senescence, positive regulation of reactive oxygen species metabolic process, negative regulation of reactive oxygen species metabolic process, regulation of fibroblast apoptotic process, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, regulation of transcription from RNA polymerase II promoter in response to DNA damage, intrinsic apoptotic signaling pathway in response to hypoxia, negative regulation of pentose-phosphate shunt, negative regulation of glucose catabolic process to lactate via pyruvate, positive regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of production of miRNAs involved in gene silencing by miRNA, negative regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of pri-miRNA transcription by RNA polymerase II, regulation of cell cycle G2/M phase transition, regulation of intrinsic apoptotic signaling pathway by p53 class mediator, regulation of mitochondrial membrane permeability involved in apoptotic process, regulation of signal transduction by p53 class mediator, negative regulation of mitophagy, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, positive regulation of execution phase of apoptosis, oligodendrocyte apoptotic process, intrinsic apoptotic signaling pathway, oxidative stress-induced premature senescence, replicative senescence, positive regulation of cell aging, positive regulation of release of cytochrome c from mitochondria, cellular response to actinomycin D, intrinsic apoptotic signaling pathway by p53 class mediator, signal transduction by p53 class mediator, mitotic cell cycle arrest, cellular response to UV-C, cellular response to gamma radiation, cellular response to ionizing radiation, cellular response to hypoxia, positive regulation of cell cycle arrest, positive regulation of cell cycle arrest, positive regulation of cell cycle arrest, necroptotic process, positive regulation of thymocyte apoptotic process, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, protein-containing complex assembly, positive regulation of programmed necrotic cell death, positive regulation of transcription from RNA polymerase II promoter in response to hypoxia, cardiac septum morphogenesis, interferon-gamma-mediated signaling pathway, hematopoietic stem cell differentiation, negative regulation of telomerase activity, neuron apoptotic process, protein tetramerization, negative regulation of helicase activity, protein stabilization, positive regulation of peptidyl-tyrosine phosphorylation, embryonic organ development, bone marrow development, circadian behavior, negative regulation of fibroblast proliferation, positive regulation of protein export from nucleus, response to antibiotic, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of RNA polymerase II transcription preinitiation complex assembly, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of proteolysis, positive regulation of neuron apoptotic process, regulation of DNA damage response, signal transduction by p53 class mediator, mitochondrial DNA repair, entrainment of circadian clock by photoperiod, negative regulation of apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, cellular response to glucose starvation, positive regulation of transcription from RNA polymerase II promoter in response to stress, positive regulation of mitochondrial membrane permeability, cellular response to drug, multicellular organism growth, cellular response to UV, regulation of tissue remodeling, tumor necrosis factor-mediated signaling pathway, T cell differentiation in thymus, mitotic G1 DNA damage checkpoint, chromatin assembly, positive regulation of histone deacetylation, negative regulation of transforming growth factor beta receptor signaling pathway, DNA damage response, signal transduction by p53 class mediator, DNA damage response, signal transduction by p53 class mediator, negative regulation of cell growth, cerebellum development, cytokine-mediated signaling pathway, protein deubiquitination, viral process, positive regulation of cardiac muscle cell apoptotic process, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, response to gamma radiation, response to X-ray, response to salt stress, rRNA transcription, mRNA transcription, determination of adult lifespan, negative regulation of cell population proliferation, negative regulation of cell population proliferation, negative regulation of cell population proliferation, negative regulation of DNA replication, protein localization, cell aging, negative regulation of neuroblast proliferation, gastrulation, Ras protein signal transduction, transforming growth factor beta receptor signaling pathway, cell cycle arrest, cell cycle arrest, ER overload response, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, autophagy, protein import into nucleus, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, double-strand break repair, nucleotide-excision repair, response to ischemia, T cell lineage commitment, B cell lineage commitment, T cell proliferation involved in immune response, hematopoietic progenitor cell differentiation, release of cytochrome c from mitochondria, somitogenesis, in utero embryonic development, DNA strand renaturation, negative regulation of transcription by RNA polymerase II, 36 46 55 108 40 86 97 32 83 ENSG00000141519 chr17 80036632 80100613 + CCDC40 protein_coding This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 55036 GO:0005930, GO:0005929, GO:0005929, GO:0005929, GO:0005737, GO:0005737, GO:0005576, axoneme, cilium, cilium, cilium, cytoplasm, cytoplasm, extracellular region, GO:0003674, molecular_function, GO:0071910, GO:0071907, GO:0070286, GO:0060287, GO:0060287, GO:0044458, GO:0036159, GO:0035469, GO:0035082, GO:0030324, GO:0030317, GO:0003356, GO:0003351, GO:0003341, GO:0001947, GO:0001947, determination of liver left/right asymmetry, determination of digestive tract left/right asymmetry, axonemal dynein complex assembly, epithelial cilium movement involved in determination of left/right asymmetry, epithelial cilium movement involved in determination of left/right asymmetry, motile cilium assembly, inner dynein arm assembly, determination of pancreatic left/right asymmetry, axoneme assembly, lung development, flagellated sperm motility, regulation of cilium beat frequency, epithelial cilium movement involved in extracellular fluid movement, cilium movement, heart looping, heart looping, 2 3 3 2 0 0 0 1 0 ENSG00000141522 chr17 81867721 81871406 - ARHGDIA protein_coding This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 396 GO:0070062, GO:0016020, GO:0005856, GO:0005829, GO:0005829, extracellular exosome, membrane, cytoskeleton, cytosol, cytosol, GO:0031267, GO:0005515, GO:0005096, GO:0005094, small GTPase binding, protein binding, GTPase activator activity, Rho GDP-dissociation inhibitor activity, GO:2000249, GO:0071526, GO:0051056, GO:0050772, GO:0050771, GO:0043547, GO:0043066, GO:0035023, GO:0007266, GO:0007162, regulation of actin cytoskeleton reorganization, semaphorin-plexin signaling pathway, regulation of small GTPase mediated signal transduction, positive regulation of axonogenesis, negative regulation of axonogenesis, positive regulation of GTPase activity, negative regulation of apoptotic process, regulation of Rho protein signal transduction, Rho protein signal transduction, negative regulation of cell adhesion, 3980 4542 4916 13674 14587 13308 13055 9879 10920 ENSG00000141524 chr17 78110458 78132407 - TMC6 protein_coding Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]. 11322 GO:0070821, GO:0070062, GO:0035579, GO:0031965, GO:0005887, GO:0005886, GO:0005794, GO:0005789, GO:0005783, GO:0005737, tertiary granule membrane, extracellular exosome, specific granule membrane, nuclear membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, GO:0008381, GO:0005515, mechanosensitive ion channel activity, protein binding, GO:0043312, GO:0034220, GO:0008150, neutrophil degranulation, ion transmembrane transport, biological_process, 609 901 1366 905 1110 1469 943 833 1223 ENSG00000141526 chr17 82228397 82261129 + SLC16A3 protein_coding Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008]. 9123 GO:0099061, GO:0098688, GO:0031965, GO:0016328, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005886, integral component of postsynaptic density membrane, parallel fiber to Purkinje cell synapse, nuclear membrane, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015293, GO:0015129, GO:0008028, GO:0005515, GO:0003723, symporter activity, lactate transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, RNA binding, GO:0050900, GO:0035879, GO:0015718, GO:0006090, leukocyte migration, plasma membrane lactate transport, monocarboxylic acid transport, pyruvate metabolic process, 11048 12380 13757 5541 9473 5485 7548 8672 5893 ENSG00000141527 chr17 80169992 80209331 + CARD14 protein_coding This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]. 79092 GO:0005886, GO:0005737, GO:0005737, plasma membrane, cytoplasm, cytoplasm, GO:0050700, GO:0050700, CARD domain binding, CARD domain binding, GO:0051092, GO:0043066, GO:0033209, GO:0007250, GO:0006915, GO:0001934, positive regulation of NF-kappaB transcription factor activity, negative regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, activation of NF-kappaB-inducing kinase activity, apoptotic process, positive regulation of protein phosphorylation, 22 25 57 44 36 88 36 25 18 ENSG00000141540 chr17 74213514 74262020 + TTYH2 protein_coding This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 94015 GO:0034707, GO:0005886, chloride channel complex, plasma membrane, GO:0072320, GO:0005515, GO:0005229, volume-sensitive chloride channel activity, protein binding, intracellular calcium activated chloride channel activity, GO:1902476, chloride transmembrane transport, 34 27 77 53 41 78 55 32 65 ENSG00000141542 chr17 82654973 82698728 - RAB40B protein_coding The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008]. 10966 GO:0048471, GO:0008021, GO:0005886, GO:0005768, GO:0005635, perinuclear region of cytoplasm, synaptic vesicle, plasma membrane, endosome, nuclear envelope, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:1901998, GO:0072659, GO:0035556, GO:0016567, toxin transport, protein localization to plasma membrane, intracellular signal transduction, protein ubiquitination, 1 0 2 1 2 7 6 1 1 ENSG00000141543 chr17 80135214 80147183 - EIF4A3 protein_coding This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]. 9775 GO:0099524, GO:0071013, GO:0071013, GO:0071006, GO:0043025, GO:0035145, GO:0030425, GO:0016607, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, postsynaptic cytosol, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, neuronal cell body, exon-exon junction complex, dendrite, nuclear speck, membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0043021, GO:0035613, GO:0035368, GO:0008143, GO:0005524, GO:0005515, GO:0003729, GO:0003729, GO:0003724, GO:0003724, GO:0003723, GO:0003723, ribonucleoprotein complex binding, RNA stem-loop binding, selenocysteine insertion sequence binding, poly(A) binding, ATP binding, protein binding, mRNA binding, mRNA binding, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, GO:1990416, GO:1904574, GO:1904570, GO:0090394, GO:0072715, GO:0048701, GO:0045727, GO:0035640, GO:0031124, GO:0017148, GO:0014070, GO:0008306, GO:0006406, GO:0006405, GO:0006364, GO:0000398, GO:0000398, GO:0000398, GO:0000184, GO:0000184, cellular response to brain-derived neurotrophic factor stimulus, negative regulation of selenocysteine insertion sequence binding, negative regulation of selenocysteine incorporation, negative regulation of excitatory postsynaptic potential, cellular response to selenite ion, embryonic cranial skeleton morphogenesis, positive regulation of translation, exploration behavior, mRNA 3'-end processing, negative regulation of translation, response to organic cyclic compound, associative learning, mRNA export from nucleus, RNA export from nucleus, rRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1319 1495 1495 12106 25201 16169 9791 15493 10728 ENSG00000141551 chr17 82239023 82273731 - CSNK1D protein_coding This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]. 1453 GO:0048471, GO:0036064, GO:0033116, GO:0005886, GO:0005876, GO:0005876, GO:0005829, GO:0005819, GO:0005813, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000139, perinuclear region of cytoplasm, ciliary basal body, endoplasmic reticulum-Golgi intermediate compartment membrane, plasma membrane, spindle microtubule, spindle microtubule, cytosol, spindle, centrosome, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, nucleus, Golgi membrane, GO:0106311, GO:0106310, GO:0050321, GO:0045296, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0004672, GO:0004672, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, cadherin binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, protein kinase activity, GO:2000052, GO:1905515, GO:1905515, GO:1905426, GO:0097711, GO:0090263, GO:0090263, GO:0071539, GO:0061512, GO:0051225, GO:0051225, GO:0048208, GO:0042752, GO:0042752, GO:0034067, GO:0032922, GO:0032436, GO:0032436, GO:0018105, GO:0018105, GO:0016055, GO:0010389, GO:0007030, GO:0007020, GO:0006468, GO:0006468, GO:0001934, GO:0000086, positive regulation of non-canonical Wnt signaling pathway, non-motile cilium assembly, non-motile cilium assembly, positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation, ciliary basal body-plasma membrane docking, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, protein localization to centrosome, protein localization to cilium, spindle assembly, spindle assembly, COPII vesicle coating, regulation of circadian rhythm, regulation of circadian rhythm, protein localization to Golgi apparatus, circadian regulation of gene expression, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, regulation of G2/M transition of mitotic cell cycle, Golgi organization, microtubule nucleation, protein phosphorylation, protein phosphorylation, positive regulation of protein phosphorylation, G2/M transition of mitotic cell cycle, 8948 9720 11402 8152 10378 10700 9705 7956 9032 ENSG00000141552 chr17 81890790 81900991 + ANAPC11 protein_coding 51529 GO:0031461, GO:0005829, GO:0005730, GO:0005680, GO:0005680, GO:0005654, GO:0005654, GO:0005634, cullin-RING ubiquitin ligase complex, cytosol, nucleolus, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, nucleoplasm, nucleus, GO:0097602, GO:0097602, GO:0061630, GO:0061630, GO:0046872, GO:0034450, GO:0005515, GO:0004842, cullin family protein binding, cullin family protein binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ubiquitin-ubiquitin ligase activity, protein binding, ubiquitin-protein transferase activity, GO:1901990, GO:0070979, GO:0051301, GO:0045842, GO:0031145, GO:0016567, GO:0016567, GO:0006511, GO:0006511, GO:0000278, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, cell division, positive regulation of mitotic metaphase/anaphase transition, anaphase-promoting complex-dependent catabolic process, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, mitotic cell cycle, 133 130 147 184 173 213 162 144 119 ENSG00000141556 chr17 82752064 82945922 + TBCD protein_coding Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]. 6904 GO:0016328, GO:0016328, GO:0005923, GO:0005912, GO:0005874, GO:0005813, GO:0005737, lateral plasma membrane, lateral plasma membrane, bicellular tight junction, adherens junction, microtubule, centrosome, cytoplasm, GO:0051087, GO:0048487, GO:0048487, GO:0005515, GO:0005096, GO:0005096, GO:0005096, chaperone binding, beta-tubulin binding, beta-tubulin binding, protein binding, GTPase activator activity, GTPase activator activity, GTPase activator activity, GO:0070830, GO:0070830, GO:0048667, GO:0043547, GO:0034333, GO:0034333, GO:0031115, GO:0010812, GO:0007023, GO:0007021, GO:0006457, GO:0006457, GO:0006457, GO:0000278, GO:0000226, bicellular tight junction assembly, bicellular tight junction assembly, cell morphogenesis involved in neuron differentiation, positive regulation of GTPase activity, adherens junction assembly, adherens junction assembly, negative regulation of microtubule polymerization, negative regulation of cell-substrate adhesion, post-chaperonin tubulin folding pathway, tubulin complex assembly, protein folding, protein folding, protein folding, mitotic cell cycle, microtubule cytoskeleton organization, 86 94 133 157 138 147 150 104 188 ENSG00000141560 chr17 82716683 82730328 + FN3KRP protein_coding A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 79672 GO:0005829, cytosol, GO:0102193, GO:0016301, GO:0016301, GO:0005524, protein-ribulosamine 3-kinase activity, kinase activity, kinase activity, ATP binding, GO:0043687, GO:0016310, post-translational protein modification, phosphorylation, 27 9 47 55 24 33 29 20 33 ENSG00000141562 chr17 82458180 82490537 + NARF protein_coding Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]. 26502 GO:0031981, GO:0005730, GO:0005654, GO:0005652, GO:0005638, GO:0005638, nuclear lumen, nucleolus, nucleoplasm, nuclear lamina, lamin filament, lamin filament, GO:0005521, GO:0005521, lamin binding, lamin binding, 1375 1256 1656 1953 2193 2521 2151 1606 2310 ENSG00000141564 chr17 80544819 80966371 + RPTOR protein_coding This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 57521 GO:0043025, GO:0031931, GO:0031931, GO:0030425, GO:0010494, GO:0005829, GO:0005829, GO:0005765, GO:0005764, GO:0005764, GO:0005737, GO:0005737, GO:0005654, GO:0005654, neuronal cell body, TORC1 complex, TORC1 complex, dendrite, cytoplasmic stress granule, cytosol, cytosol, lysosomal membrane, lysosome, lysosome, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, GO:0071889, GO:0044877, GO:0030674, GO:0030674, GO:0030295, GO:0030291, GO:0019901, GO:0005515, GO:0001156, GO:0001006, GO:0001003, GO:0001002, 14-3-3 protein binding, protein-containing complex binding, protein-macromolecule adaptor activity, protein-macromolecule adaptor activity, protein kinase activator activity, protein serine/threonine kinase inhibitor activity, protein kinase binding, protein binding, TFIIIC-class transcription factor complex binding, RNA polymerase III type 3 promoter sequence-specific DNA binding, RNA polymerase III type 2 promoter sequence-specific DNA binding, RNA polymerase III type 1 promoter sequence-specific DNA binding, GO:1900087, GO:1900034, GO:0071902, GO:0071902, GO:0071901, GO:0071233, GO:0071230, GO:0071230, GO:0045945, GO:0038202, GO:0038202, GO:0033138, GO:0032147, GO:0032008, GO:0031929, GO:0031929, GO:0031669, GO:0030307, GO:0030307, GO:0016241, GO:0016032, GO:0010800, GO:0010506, GO:0009267, GO:0008361, GO:0007050, GO:0001938, GO:0001558, positive regulation of G1/S transition of mitotic cell cycle, regulation of cellular response to heat, positive regulation of protein serine/threonine kinase activity, positive regulation of protein serine/threonine kinase activity, negative regulation of protein serine/threonine kinase activity, cellular response to leucine, cellular response to amino acid stimulus, cellular response to amino acid stimulus, positive regulation of transcription by RNA polymerase III, TORC1 signaling, TORC1 signaling, positive regulation of peptidyl-serine phosphorylation, activation of protein kinase activity, positive regulation of TOR signaling, TOR signaling, TOR signaling, cellular response to nutrient levels, positive regulation of cell growth, positive regulation of cell growth, regulation of macroautophagy, viral process, positive regulation of peptidyl-threonine phosphorylation, regulation of autophagy, cellular response to starvation, regulation of cell size, cell cycle arrest, positive regulation of endothelial cell proliferation, regulation of cell growth, 31 31 54 72 51 80 109 56 81 ENSG00000141568 chr17 82519713 82644662 + FOXK2 protein_coding The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008]. 3607 GO:0043231, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, mitochondrion, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0043565, GO:0005515, GO:0003700, GO:0003700, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, GO:0000287, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, magnesium ion binding, GO:0061621, GO:0045944, GO:0045893, GO:0045892, GO:0042594, GO:0016579, GO:0010906, GO:0010507, GO:0006357, GO:0006357, GO:0006355, GO:0001678, GO:0000122, canonical glycolysis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, response to starvation, protein deubiquitination, regulation of glucose metabolic process, negative regulation of autophagy, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, cellular glucose homeostasis, negative regulation of transcription by RNA polymerase II, 168 204 179 199 181 161 147 173 114 ENSG00000141569 chr17 75880335 75897003 - TRIM65 protein_coding 201292 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0008270, zinc ion binding, GO:0010508, GO:0010508, positive regulation of autophagy, positive regulation of autophagy, 13 13 31 42 35 74 56 14 71 ENSG00000141570 chr17 79792132 79801683 - CBX8 protein_coding 57332 GO:0035102, GO:0031519, GO:0005654, GO:0005654, GO:0005634, GO:0000792, GO:0000785, PRC1 complex, PcG protein complex, nucleoplasm, nucleoplasm, nucleus, heterochromatin, chromatin, GO:0097027, GO:0035064, GO:0005515, GO:0003727, ubiquitin-protein transferase activator activity, methylated histone binding, protein binding, single-stranded RNA binding, GO:0070301, GO:0050790, GO:0045739, GO:0032967, GO:0016574, GO:0008284, GO:0000122, cellular response to hydrogen peroxide, regulation of catalytic activity, positive regulation of DNA repair, positive regulation of collagen biosynthetic process, histone ubiquitination, positive regulation of cell population proliferation, negative regulation of transcription by RNA polymerase II, 51 38 47 15 37 27 26 21 31 ENSG00000141574 chr17 82321024 82334074 - SECTM1 protein_coding This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008]. 6398 GO:0070062, GO:0016021, GO:0016021, GO:0005886, GO:0005794, GO:0005615, extracellular exosome, integral component of membrane, integral component of membrane, plasma membrane, Golgi apparatus, extracellular space, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0043123, GO:0007498, GO:0007165, GO:0006955, positive regulation of I-kappaB kinase/NF-kappaB signaling, mesoderm development, signal transduction, immune response, 3254 2756 3383 1004 1905 1234 1495 1933 1445 ENSG00000141576 chr17 76142453 76240373 - RNF157 protein_coding 114804 GO:0044297, GO:0005886, GO:0005769, GO:0005737, GO:0005737, GO:0005634, cell body, plasma membrane, early endosome, cytoplasm, cytoplasm, nucleus, GO:0061630, GO:0061630, GO:0046872, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, GO:1903861, GO:0051865, GO:0045744, GO:0043951, GO:0043066, GO:0016567, GO:0016567, GO:0008333, positive regulation of dendrite extension, protein autoubiquitination, negative regulation of G protein-coupled receptor signaling pathway, negative regulation of cAMP-mediated signaling, negative regulation of apoptotic process, protein ubiquitination, protein ubiquitination, endosome to lysosome transport, 43 18 43 117 23 82 101 32 66 ENSG00000141577 chr17 81189593 81222999 - CEP131 protein_coding 22994 GO:0045171, GO:0043231, GO:0036064, GO:0035869, GO:0034451, GO:0034451, GO:0015630, GO:0005829, GO:0005813, GO:0005813, GO:0001669, intercellular bridge, intracellular membrane-bounded organelle, ciliary basal body, ciliary transition zone, centriolar satellite, centriolar satellite, microtubule cytoskeleton, cytosol, centrosome, centrosome, acrosomal vesicle, GO:0044877, GO:0042803, GO:0005515, protein-containing complex binding, protein homodimerization activity, protein binding, GO:0097711, GO:0090316, GO:0071539, GO:0060271, GO:0035735, GO:0030154, GO:0010824, GO:0010824, GO:0010389, GO:0008284, GO:0007283, GO:0007275, GO:0000086, ciliary basal body-plasma membrane docking, positive regulation of intracellular protein transport, protein localization to centrosome, cilium assembly, intraciliary transport involved in cilium assembly, cell differentiation, regulation of centrosome duplication, regulation of centrosome duplication, regulation of G2/M transition of mitotic cell cycle, positive regulation of cell population proliferation, spermatogenesis, multicellular organism development, G2/M transition of mitotic cell cycle, 54 85 134 95 118 109 119 85 67 ENSG00000141579 chr17 82829435 82840578 - ZNF750 protein_coding This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]. 79755 GO:0005634, GO:0005634, nucleus, nucleus, GO:1990841, GO:1990841, GO:0046872, GO:0005515, GO:0001228, GO:0001228, GO:0001227, GO:0000978, GO:0000978, promoter-specific chromatin binding, promoter-specific chromatin binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0045944, GO:0030154, GO:0010719, GO:0008544, GO:0008544, GO:0000122, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cell differentiation, negative regulation of epithelial to mesenchymal transition, epidermis development, epidermis development, negative regulation of transcription by RNA polymerase II, 0 3 0 0 2 0 1 6 0 ENSG00000141580 chr17 82614562 82648553 - WDR45B protein_coding This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]. 56270 GO:0034045, GO:0019898, GO:0005829, GO:0005764, GO:0000407, phagophore assembly site membrane, extrinsic component of membrane, cytosol, lysosome, phagophore assembly site, GO:0080025, GO:0080025, GO:0062078, GO:0032266, GO:0032266, GO:0005515, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, TSC1-TSC2 complex binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, protein binding, GO:0044804, GO:0034497, GO:0009267, GO:0006497, GO:0000422, GO:0000045, autophagy of nucleus, protein localization to phagophore assembly site, cellular response to starvation, protein lipidation, autophagy of mitochondrion, autophagosome assembly, 561 500 617 424 561 514 427 404 361 ENSG00000141582 chr17 79833156 79839429 - CBX4 protein_coding 8535 GO:0035102, GO:0031519, GO:0016607, GO:0016604, GO:0005654, GO:0005654, GO:0005634, PRC1 complex, PcG protein complex, nuclear speck, nuclear body, nucleoplasm, nucleoplasm, nucleus, GO:0061665, GO:0051219, GO:0035064, GO:0032183, GO:0019899, GO:0019789, GO:0005515, GO:0003727, GO:0003714, GO:0003682, GO:0000976, SUMO ligase activity, phosphoprotein binding, methylated histone binding, SUMO binding, enzyme binding, SUMO transferase activity, protein binding, single-stranded RNA binding, transcription corepressor activity, chromatin binding, transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0043066, GO:0016925, GO:0006325, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of apoptotic process, protein sumoylation, chromatin organization, negative regulation of transcription by RNA polymerase II, 964 935 1127 781 1242 1182 820 841 931 ENSG00000141622 chr18 46326809 46463140 + RNF165 protein_coding Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. [provided by RefSeq, Jul 2008]. 494470 GO:0032991, GO:0005634, protein-containing complex, nucleus, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0061061, GO:0060384, GO:0035136, GO:0030513, GO:0030163, GO:0010259, GO:0008045, GO:0000209, muscle structure development, innervation, forelimb morphogenesis, positive regulation of BMP signaling pathway, protein catabolic process, multicellular organism aging, motor neuron axon guidance, protein polyubiquitination, 1 3 1 7 2 6 6 7 11 ENSG00000141627 chr18 49041474 49461347 - DYM protein_coding This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]. 54808 GO:0016020, GO:0005794, GO:0005794, GO:0005737, membrane, Golgi apparatus, Golgi apparatus, cytoplasm, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:0060348, GO:0007030, GO:0007030, bone development, Golgi organization, Golgi organization, 104 177 197 132 135 149 100 113 159 ENSG00000141639 chr18 50560078 50731824 + MAPK4 protein_coding Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 5596 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046982, GO:0042803, GO:0019901, GO:0005524, GO:0005515, GO:0004707, GO:0004674, protein heterodimerization activity, protein homodimerization activity, protein kinase binding, ATP binding, protein binding, MAP kinase activity, protein serine/threonine kinase activity, GO:0035556, GO:0010468, GO:0007049, GO:0006468, GO:0000165, intracellular signal transduction, regulation of gene expression, cell cycle, protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 0 0 2 ENSG00000141642 chr18 50967991 50988121 + ELAC1 protein_coding 55520 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0042781, metal ion binding, 3'-tRNA processing endoribonuclease activity, 6 3 9 4 0 5 5 3 1 ENSG00000141644 chr18 50266882 50281774 - MBD1 protein_coding The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]. 4152 GO:0016607, GO:0016363, GO:0005694, GO:0005654, GO:0005634, nuclear speck, nuclear matrix, chromosome, nucleoplasm, nucleus, GO:0045322, GO:0010385, GO:0008327, GO:0008327, GO:0008270, GO:0005515, GO:0003677, unmethylated CpG binding, double-stranded methylated DNA binding, methyl-CpG binding, methyl-CpG binding, zinc ion binding, protein binding, DNA binding, GO:0045892, GO:0006366, negative regulation of transcription, DNA-templated, transcription by RNA polymerase II, 661 681 830 609 677 625 538 558 529 ENSG00000141646 chr18 51028394 51085045 + SMAD4 protein_coding This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017]. 4089 GO:0071144, GO:0071141, GO:0071141, GO:0032444, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005667, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, heteromeric SMAD protein complex, SMAD protein complex, SMAD protein complex, activin responsive factor complex, cytosol, cytosol, centrosome, cytoplasm, transcription regulator complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0070412, GO:0070411, GO:0070411, GO:0046872, GO:0043565, GO:0043199, GO:0042803, GO:0042802, GO:0005518, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001223, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, R-SMAD binding, I-SMAD binding, I-SMAD binding, metal ion binding, sequence-specific DNA binding, sulfate binding, protein homodimerization activity, identical protein binding, collagen binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, transcription coactivator binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000617, GO:1905305, GO:1902895, GO:1901522, GO:0072520, GO:0072134, GO:0072133, GO:0071773, GO:0071559, GO:0070373, GO:0070102, GO:0062009, GO:0061040, GO:0060956, GO:0060548, GO:0060412, GO:0060395, GO:0060395, GO:0060391, GO:0060065, GO:0051797, GO:0051571, GO:0051098, GO:0048859, GO:0048733, GO:0048663, GO:0048589, GO:0046881, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0042733, GO:0042118, GO:0036302, GO:0035556, GO:0035019, GO:0033686, GO:0032909, GO:0032525, GO:0030513, GO:0030511, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030308, GO:0030154, GO:0017015, GO:0016579, GO:0014033, GO:0010862, GO:0010718, GO:0010614, GO:0009653, GO:0008285, GO:0008283, GO:0007498, GO:0007492, GO:0007411, GO:0007338, GO:0007283, GO:0007183, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0006879, GO:0006357, GO:0003360, GO:0003251, GO:0003220, GO:0003198, GO:0003190, GO:0003148, GO:0001702, GO:0001701, GO:0001666, GO:0001658, GO:0001541, GO:0000122, GO:0000122, positive regulation of histone H3-K9 acetylation, negative regulation of cardiac myofibril assembly, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, seminiferous tubule development, nephrogenic mesenchyme morphogenesis, metanephric mesenchyme morphogenesis, cellular response to BMP stimulus, response to transforming growth factor beta, negative regulation of ERK1 and ERK2 cascade, interleukin-6-mediated signaling pathway, secondary palate development, female gonad morphogenesis, endocardial cell differentiation, negative regulation of cell death, ventricular septum morphogenesis, SMAD protein signal transduction, SMAD protein signal transduction, positive regulation of SMAD protein signal transduction, uterus development, regulation of hair follicle development, positive regulation of histone H3-K4 methylation, regulation of binding, formation of anatomical boundary, sebaceous gland development, neuron fate commitment, developmental growth, positive regulation of follicle-stimulating hormone secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, embryonic digit morphogenesis, endothelial cell activation, atrioventricular canal development, intracellular signal transduction, somatic stem cell population maintenance, positive regulation of luteinizing hormone secretion, regulation of transforming growth factor beta2 production, somite rostral/caudal axis specification, positive regulation of BMP signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, negative regulation of cell growth, cell differentiation, regulation of transforming growth factor beta receptor signaling pathway, protein deubiquitination, neural crest cell differentiation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial to mesenchymal transition, negative regulation of cardiac muscle hypertrophy, anatomical structure morphogenesis, negative regulation of cell population proliferation, cell population proliferation, mesoderm development, endoderm development, axon guidance, single fertilization, spermatogenesis, SMAD protein complex assembly, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, cellular iron ion homeostasis, regulation of transcription by RNA polymerase II, brainstem development, positive regulation of cell proliferation involved in heart valve morphogenesis, left ventricular cardiac muscle tissue morphogenesis, epithelial to mesenchymal transition involved in endocardial cushion formation, atrioventricular valve formation, outflow tract septum morphogenesis, gastrulation with mouth forming second, in utero embryonic development, response to hypoxia, branching involved in ureteric bud morphogenesis, ovarian follicle development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 547 581 771 358 507 575 385 407 427 ENSG00000141655 chr18 62325287 62391292 + TNFRSF11A protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]. 8792 GO:0016021, GO:0009897, GO:0009897, GO:0005886, GO:0005886, GO:0005829, integral component of membrane, external side of plasma membrane, external side of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0046872, GO:0038023, GO:0019955, GO:0019955, GO:0005515, GO:0005031, GO:0005031, GO:0004888, metal ion binding, signaling receptor activity, cytokine binding, cytokine binding, protein binding, tumor necrosis factor-activated receptor activity, tumor necrosis factor-activated receptor activity, transmembrane signaling receptor activity, GO:0072674, GO:0071848, GO:0071847, GO:0071847, GO:0071812, GO:0070555, GO:0070555, GO:0060749, GO:0060086, GO:0051092, GO:0051092, GO:0051092, GO:0051091, GO:0051091, GO:0048535, GO:0045780, GO:0043507, GO:0034612, GO:0034097, GO:0033209, GO:0033209, GO:0032496, GO:0030316, GO:0009314, GO:0008284, GO:0007267, GO:0007165, GO:0002548, GO:0002250, GO:0001503, multinuclear osteoclast differentiation, positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling, TNFSF11-mediated signaling pathway, TNFSF11-mediated signaling pathway, positive regulation of fever generation by positive regulation of prostaglandin secretion, response to interleukin-1, response to interleukin-1, mammary gland alveolus development, circadian temperature homeostasis, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, lymph node development, positive regulation of bone resorption, positive regulation of JUN kinase activity, response to tumor necrosis factor, response to cytokine, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, response to lipopolysaccharide, osteoclast differentiation, response to radiation, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, monocyte chemotaxis, adaptive immune response, ossification, 2 0 0 2 1 0 0 0 0 ENSG00000141664 chr18 62523007 62587709 + ZCCHC2 protein_coding 54877 GO:0005737, cytoplasm, GO:0035091, GO:0008270, GO:0003676, phosphatidylinositol binding, zinc ion binding, nucleic acid binding, 1294 904 1573 610 757 922 874 574 714 ENSG00000141665 chr18 74073353 74147865 - FBXO15 protein_coding Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 201456 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0000209, post-translational protein modification, protein polyubiquitination, 1 0 0 0 1 4 4 0 0 ENSG00000141668 chr18 72536680 72638521 - CBLN2 protein_coding 147381 GO:0098978, GO:0005615, glutamatergic synapse, extracellular space, GO:1905606, GO:0099558, GO:0098814, GO:0051965, GO:0050808, regulation of presynapse assembly, maintenance of synapse structure, spontaneous synaptic transmission, positive regulation of synapse assembly, synapse organization, 0 0 0 0 0 0 0 0 0 ENSG00000141682 chr18 59899948 59904306 + PMAIP1 protein_coding This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020]. 5366 GO:0005829, GO:0005829, GO:0005741, GO:0005739, GO:0005739, GO:0005634, cytosol, cytosol, mitochondrial outer membrane, mitochondrion, mitochondrion, nucleus, GO:0005515, protein binding, GO:2001244, GO:2001244, GO:1902237, GO:1902043, GO:1900740, GO:0097193, GO:0090200, GO:0090200, GO:0072593, GO:0072332, GO:0071456, GO:0051607, GO:0046902, GO:0043517, GO:0043331, GO:0043280, GO:0043065, GO:0043065, GO:0043029, GO:0042981, GO:0042149, GO:0010917, GO:0010907, GO:0010498, GO:0006974, GO:0006919, GO:0006915, GO:0001844, GO:0001836, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, intrinsic apoptotic signaling pathway, positive regulation of release of cytochrome c from mitochondria, positive regulation of release of cytochrome c from mitochondria, reactive oxygen species metabolic process, intrinsic apoptotic signaling pathway by p53 class mediator, cellular response to hypoxia, defense response to virus, regulation of mitochondrial membrane permeability, positive regulation of DNA damage response, signal transduction by p53 class mediator, response to dsRNA, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, T cell homeostasis, regulation of apoptotic process, cellular response to glucose starvation, negative regulation of mitochondrial membrane potential, positive regulation of glucose metabolic process, proteasomal protein catabolic process, cellular response to DNA damage stimulus, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, release of cytochrome c from mitochondria, 2887 3282 3381 1896 2765 3185 2243 1883 2612 ENSG00000141696 chr17 41801947 41812604 - P3H4 protein_coding This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]. 10609 GO:1902494, GO:0005783, GO:0005783, GO:0005730, GO:0000795, GO:0000794, catalytic complex, endoplasmic reticulum, endoplasmic reticulum, nucleolus, synaptonemal complex, condensed nuclear chromosome, GO:0005518, collagen binding, GO:0046849, GO:0032964, GO:0030199, GO:0030199, GO:0017185, GO:0017185, GO:0007130, bone remodeling, collagen biosynthetic process, collagen fibril organization, collagen fibril organization, peptidyl-lysine hydroxylation, peptidyl-lysine hydroxylation, synaptonemal complex assembly, 2 0 4 5 1 1 1 1 15 ENSG00000141698 chr17 41825181 41836263 - NT5C3B protein_coding 115024 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0008253, GO:0008253, GO:0005515, GO:0000287, GO:0000166, 5'-nucleotidase activity, 5'-nucleotidase activity, protein binding, magnesium ion binding, nucleotide binding, GO:0043928, GO:0016311, GO:0009117, exonucleolytic catabolism of deadenylated mRNA, dephosphorylation, nucleotide metabolic process, 3 4 5 10 8 23 16 3 11 ENSG00000141699 chr17 42579513 42610623 - RETREG3 protein_coding 162427 GO:0032991, GO:0016021, protein-containing complex, integral component of membrane, GO:0005515, protein binding, GO:0061709, GO:0010976, reticulophagy, positive regulation of neuron projection development, 171 240 288 179 144 229 166 131 169 ENSG00000141736 chr17 39687914 39730426 + ERBB2 protein_coding This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]. 2064 GO:0048471, GO:0043235, GO:0043235, GO:0043235, GO:0043209, GO:0038143, GO:0016324, GO:0016323, GO:0016021, GO:0010008, GO:0009925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005769, GO:0005634, perinuclear region of cytoplasm, receptor complex, receptor complex, receptor complex, myelin sheath, ERBB3:ERBB2 complex, apical plasma membrane, basolateral plasma membrane, integral component of membrane, endosome membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, early endosome, nucleus, GO:0046982, GO:0043125, GO:0042802, GO:0019903, GO:0019838, GO:0008022, GO:0005524, GO:0005515, GO:0004888, GO:0004714, GO:0004714, GO:0004713, GO:0004713, GO:0004713, GO:0001042, protein heterodimerization activity, ErbB-3 class receptor binding, identical protein binding, protein phosphatase binding, growth factor binding, protein C-terminus binding, ATP binding, protein binding, transmembrane signaling receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, RNA polymerase I core binding, GO:2000145, GO:1901185, GO:0090314, GO:0071364, GO:0071363, GO:0070372, GO:0051897, GO:0050679, GO:0048709, GO:0046777, GO:0045943, GO:0045785, GO:0045765, GO:0045727, GO:0043547, GO:0043410, GO:0043406, GO:0042552, GO:0042060, GO:0038128, GO:0035556, GO:0033674, GO:0033088, GO:0032886, GO:0030307, GO:0030182, GO:0018108, GO:0014065, GO:0008284, GO:0008045, GO:0007528, GO:0007507, GO:0007422, GO:0007275, GO:0007169, GO:0007169, GO:0007169, GO:0007167, GO:0007166, GO:0007165, GO:0006468, GO:0006357, GO:0001934, GO:0000165, regulation of cell motility, negative regulation of ERBB signaling pathway, positive regulation of protein targeting to membrane, cellular response to epidermal growth factor stimulus, cellular response to growth factor stimulus, regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, positive regulation of epithelial cell proliferation, oligodendrocyte differentiation, protein autophosphorylation, positive regulation of transcription by RNA polymerase I, positive regulation of cell adhesion, regulation of angiogenesis, positive regulation of translation, positive regulation of GTPase activity, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, myelination, wound healing, ERBB2 signaling pathway, intracellular signal transduction, positive regulation of kinase activity, negative regulation of immature T cell proliferation in thymus, regulation of microtubule-based process, positive regulation of cell growth, neuron differentiation, peptidyl-tyrosine phosphorylation, phosphatidylinositol 3-kinase signaling, positive regulation of cell population proliferation, motor neuron axon guidance, neuromuscular junction development, heart development, peripheral nervous system development, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, enzyme linked receptor protein signaling pathway, cell surface receptor signaling pathway, signal transduction, protein phosphorylation, regulation of transcription by RNA polymerase II, positive regulation of protein phosphorylation, MAPK cascade, 194 187 160 232 279 343 196 214 199 ENSG00000141738 chr17 39737927 39747291 + GRB7 protein_coding The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 2886 GO:0042995, GO:0010494, GO:0005925, GO:0005886, GO:0005829, GO:0005829, cell projection, cytoplasmic stress granule, focal adhesion, plasma membrane, cytosol, cytosol, GO:0042802, GO:0035091, GO:0019901, GO:0005515, GO:0003723, identical protein binding, phosphatidylinositol binding, protein kinase binding, protein binding, RNA binding, GO:0050900, GO:0046627, GO:0038128, GO:0034063, GO:0030335, GO:0017148, GO:0008286, GO:0007411, GO:0007173, leukocyte migration, negative regulation of insulin receptor signaling pathway, ERBB2 signaling pathway, stress granule assembly, positive regulation of cell migration, negative regulation of translation, insulin receptor signaling pathway, axon guidance, epidermal growth factor receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000141741 chr17 39728496 39730787 - MIEN1 protein_coding 84299 GO:0031235, GO:0005829, GO:0005829, intrinsic component of the cytoplasmic side of the plasma membrane, cytosol, cytosol, GO:0005515, protein binding, GO:0051491, GO:0051491, GO:0043066, GO:0043066, GO:0030335, GO:0010269, GO:0006915, positive regulation of filopodium assembly, positive regulation of filopodium assembly, negative regulation of apoptotic process, negative regulation of apoptotic process, positive regulation of cell migration, response to selenium ion, apoptotic process, 311 302 276 385 446 454 333 312 305 ENSG00000141744 chr17 39667981 39670475 + PNMT protein_coding The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]. 5409 GO:0005829, GO:0005829, cytosol, cytosol, GO:0008170, GO:0005515, GO:0004603, GO:0004603, N-methyltransferase activity, protein binding, phenylethanolamine N-methyltransferase activity, phenylethanolamine N-methyltransferase activity, GO:0042423, GO:0042418, GO:0032259, catecholamine biosynthetic process, epinephrine biosynthetic process, methylation, 0 0 0 1 1 0 0 1 0 ENSG00000141748 chr17 39156894 39167484 - ARL5C protein_coding 390790 GO:0005802, GO:0005737, trans-Golgi network, cytoplasm, GO:0005525, GTP binding, GO:1903292, GO:0016192, GO:0006886, protein localization to Golgi membrane, vesicle-mediated transport, intracellular protein transport, 0 0 0 0 0 0 0 1 0 ENSG00000141750 chr17 39210536 39225872 - STAC2 protein_coding This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of this gene has been observed in human heart failure. [provided by RefSeq, May 2017]. 342667 GO:0042383, GO:0031234, GO:0031234, GO:0005829, sarcolemma, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, cytosol, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:1903078, GO:1903078, GO:1901387, GO:1901387, GO:0035556, GO:0003009, positive regulation of protein localization to plasma membrane, positive regulation of protein localization to plasma membrane, positive regulation of voltage-gated calcium channel activity, positive regulation of voltage-gated calcium channel activity, intracellular signal transduction, skeletal muscle contraction, 0 0 0 0 3 0 0 0 4 ENSG00000141753 chr17 40443461 40457731 + IGFBP4 protein_coding This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]. 3487 GO:0005788, GO:0005615, GO:0005576, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0031995, GO:0031994, GO:0005515, GO:0005102, insulin-like growth factor II binding, insulin-like growth factor I binding, protein binding, signaling receptor binding, GO:0090090, GO:0044342, GO:0044267, GO:0043687, GO:0043568, GO:0043567, GO:0043410, GO:0010906, GO:0007165, GO:0006954, GO:0001558, negative regulation of canonical Wnt signaling pathway, type B pancreatic cell proliferation, cellular protein metabolic process, post-translational protein modification, positive regulation of insulin-like growth factor receptor signaling pathway, regulation of insulin-like growth factor receptor signaling pathway, positive regulation of MAPK cascade, regulation of glucose metabolic process, signal transduction, inflammatory response, regulation of cell growth, 15 8 26 16 6 9 5 4 8 ENSG00000141756 chr17 41812680 41823217 + FKBP10 protein_coding The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]. 60681 GO:0016020, GO:0005788, GO:0005783, GO:0005758, membrane, endoplasmic reticulum lumen, endoplasmic reticulum, mitochondrial intermembrane space, GO:0005528, GO:0005515, GO:0005509, GO:0003755, FK506 binding, protein binding, calcium ion binding, peptidyl-prolyl cis-trans isomerase activity, GO:0085029, GO:0042060, GO:0035909, GO:0030199, GO:0017185, GO:0001701, GO:0000413, extracellular matrix assembly, wound healing, aorta morphogenesis, collagen fibril organization, peptidyl-lysine hydroxylation, in utero embryonic development, protein peptidyl-prolyl isomerization, 0 0 1 0 0 0 0 0 3 ENSG00000141759 chr18 79970811 80033949 - TXNL4A protein_coding The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]. 10907 GO:0071005, GO:0046540, GO:0046540, GO:0031965, GO:0005829, GO:0005682, GO:0005681, GO:0005681, GO:0005654, GO:0005654, GO:0005634, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, nuclear membrane, cytosol, U5 snRNP, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0051301, GO:0007049, GO:0000398, GO:0000398, GO:0000375, GO:0000245, cell division, cell cycle, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, spliceosomal complex assembly, 132 83 106 94 78 93 80 106 52 ENSG00000141837 chr19 13206442 13633025 - CACNA1A protein_coding Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]. 773 GO:0045202, GO:0043025, GO:0042995, GO:0016021, GO:0016021, GO:0005891, GO:0005886, GO:0005886, GO:0005737, GO:0005634, synapse, neuronal cell body, cell projection, integral component of membrane, integral component of membrane, voltage-gated calcium channel complex, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0046872, GO:0019905, GO:0008331, GO:0008331, GO:0005515, GO:0005245, GO:0005245, GO:0005245, GO:0001540, metal ion binding, syntaxin binding, high voltage-gated calcium channel activity, high voltage-gated calcium channel activity, protein binding, voltage-gated calcium channel activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, amyloid-beta binding, GO:1904646, GO:1904646, GO:1904645, GO:0070588, GO:0070509, GO:0051899, GO:0050804, GO:0050796, GO:0034765, GO:0008219, GO:0007268, GO:0007204, GO:0006816, cellular response to amyloid-beta, cellular response to amyloid-beta, response to amyloid-beta, calcium ion transmembrane transport, calcium ion import, membrane depolarization, modulation of chemical synaptic transmission, regulation of insulin secretion, regulation of ion transmembrane transport, cell death, chemical synaptic transmission, positive regulation of cytosolic calcium ion concentration, calcium ion transport, 51 69 61 29 75 74 59 41 48 ENSG00000141854 chr19 14072536 14075062 + MISP3 protein_coding 113230 3 8 11 6 11 4 13 10 4 ENSG00000141858 chr19 14087840 14091036 - SAMD1 protein_coding 90378 GO:0005737, GO:0005634, GO:0005576, cytoplasm, nucleus, extracellular region, GO:0042393, GO:0003682, histone binding, chromatin binding, GO:0045892, negative regulation of transcription, DNA-templated, 27 29 51 58 34 58 59 24 55 ENSG00000141867 chr19 15235519 15332545 - BRD4 protein_coding The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]. 23476 GO:0005654, GO:0005634, GO:0000794, nucleoplasm, nucleus, condensed nuclear chromosome, GO:0106140, GO:0099122, GO:0070577, GO:0019899, GO:0008353, GO:0005515, GO:0003712, GO:0003682, GO:0002039, P-TEFb complex binding, RNA polymerase II C-terminal domain binding, lysine-acetylated histone binding, enzyme binding, RNA polymerase II CTD heptapeptide repeat kinase activity, protein binding, transcription coregulator activity, chromatin binding, p53 binding, GO:2001255, GO:1901407, GO:0050727, GO:0045944, GO:0045893, GO:0043123, GO:0032968, GO:0032968, GO:0016032, GO:0010971, GO:0006974, GO:0006468, GO:0006325, GO:0000083, positive regulation of histone H3-K36 trimethylation, regulation of phosphorylation of RNA polymerase II C-terminal domain, regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of transcription elongation from RNA polymerase II promoter, positive regulation of transcription elongation from RNA polymerase II promoter, viral process, positive regulation of G2/M transition of mitotic cell cycle, cellular response to DNA damage stimulus, protein phosphorylation, chromatin organization, regulation of transcription involved in G1/S transition of mitotic cell cycle, 3059 3262 4759 1488 2268 1965 1773 1828 1593 ENSG00000141873 chr19 2732204 2740152 - SLC39A3 protein_coding 29985 GO:0016021, GO:0016020, GO:0005886, GO:0005886, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0005385, zinc ion transmembrane transporter activity, GO:0071577, zinc ion transmembrane transport, 13 23 29 15 25 31 13 20 39 ENSG00000141905 chr19 3314403 3469217 + NFIC protein_coding The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 4782 GO:0005654, GO:0005634, GO:0001650, GO:0000785, nucleoplasm, nucleus, fibrillar center, chromatin, GO:1990837, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0042475, GO:0006366, GO:0006357, GO:0006260, GO:0000122, GO:0000122, positive regulation of transcription by RNA polymerase II, odontogenesis of dentin-containing tooth, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, DNA replication, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 551 621 653 348 477 505 517 449 508 ENSG00000141933 chr19 507497 519654 + TPGS1 protein_coding 91978 GO:0031514, GO:0030425, GO:0030424, GO:0005874, GO:0005813, GO:0005737, motile cilium, dendrite, axon, microtubule, centrosome, cytoplasm, GO:0008017, microtubule binding, GO:0030154, GO:0018095, GO:0007283, GO:0007275, cell differentiation, protein polyglutamylation, spermatogenesis, multicellular organism development, 36 25 30 24 16 61 37 40 39 ENSG00000141934 chr19 281040 291504 - PLPP2 protein_coding The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 8612 GO:0031901, GO:0016021, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005769, early endosome membrane, integral component of membrane, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, early endosome, GO:0106235, GO:0042577, GO:0042392, GO:0008195, GO:0008195, GO:0005515, ceramide-1-phosphate phosphatase activity, lipid phosphatase activity, sphingosine-1-phosphate phosphatase activity, phosphatidate phosphatase activity, phosphatidate phosphatase activity, protein binding, GO:1902806, GO:0046839, GO:0046839, GO:0030148, GO:0007165, GO:0006672, GO:0006670, GO:0006644, GO:0006644, GO:0006644, regulation of cell cycle G1/S phase transition, phospholipid dephosphorylation, phospholipid dephosphorylation, sphingolipid biosynthetic process, signal transduction, ceramide metabolic process, sphingosine metabolic process, phospholipid metabolic process, phospholipid metabolic process, phospholipid metabolic process, 0 2 7 0 0 7 0 3 0 ENSG00000141946 chr19 57134096 57145202 - ZIM3 protein_coding 114026 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000141956 chr21 41798225 41879482 - PRDM15 protein_coding 63977 GO:0016604, GO:0005654, GO:0005634, GO:0005634, nuclear body, nucleoplasm, nucleus, nucleus, GO:1990841, GO:0046872, GO:0008168, GO:0001228, GO:0000978, GO:0000978, promoter-specific chromatin binding, metal ion binding, methyltransferase activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000035, GO:0090263, GO:0045944, GO:0043409, GO:0032259, GO:0007275, GO:0006357, regulation of stem cell division, positive regulation of canonical Wnt signaling pathway, positive regulation of transcription by RNA polymerase II, negative regulation of MAPK cascade, methylation, multicellular organism development, regulation of transcription by RNA polymerase II, 23 17 38 28 10 46 27 14 35 ENSG00000141959 chr21 44300051 44327376 + PFKL protein_coding This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 5211 GO:1904813, GO:0070062, GO:0034774, GO:0016020, GO:0016020, GO:0005945, GO:0005945, GO:0005829, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, membrane, membrane, 6-phosphofructokinase complex, 6-phosphofructokinase complex, cytosol, cytosol, extracellular region, GO:0070095, GO:0070095, GO:0070061, GO:0048029, GO:0046872, GO:0042802, GO:0042802, GO:0019900, GO:0016208, GO:0005524, GO:0005524, GO:0005515, GO:0003872, GO:0003872, GO:0003872, fructose-6-phosphate binding, fructose-6-phosphate binding, fructose binding, monosaccharide binding, metal ion binding, identical protein binding, identical protein binding, kinase binding, AMP binding, ATP binding, ATP binding, protein binding, 6-phosphofructokinase activity, 6-phosphofructokinase activity, 6-phosphofructokinase activity, GO:0061621, GO:0061621, GO:0046676, GO:0043312, GO:0030388, GO:0030388, GO:0009749, GO:0006096, GO:0006002, GO:0006002, GO:0006002, canonical glycolysis, canonical glycolysis, negative regulation of insulin secretion, neutrophil degranulation, fructose 1,6-bisphosphate metabolic process, fructose 1,6-bisphosphate metabolic process, response to glucose, glycolytic process, fructose 6-phosphate metabolic process, fructose 6-phosphate metabolic process, fructose 6-phosphate metabolic process, 276 299 330 262 256 370 283 221 280 ENSG00000141965 chr19 4791681 4801273 + FEM1A protein_coding 55527 GO:0005829, GO:0000151, cytosol, ubiquitin ligase complex, GO:0031867, GO:0005515, EP4 subtype prostaglandin E2 receptor binding, protein binding, GO:0051438, GO:0050728, GO:0050728, GO:0043687, GO:0016567, GO:0006511, regulation of ubiquitin-protein transferase activity, negative regulation of inflammatory response, negative regulation of inflammatory response, post-translational protein modification, protein ubiquitination, ubiquitin-dependent protein catabolic process, 229 168 231 225 425 336 187 253 192 ENSG00000141968 chr19 6772714 6857366 + VAV1 protein_coding This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]. 7409 GO:0005911, GO:0005886, GO:0005829, cell-cell junction, plasma membrane, cytosol, GO:0140031, GO:0046872, GO:0005515, GO:0005085, GO:0005085, GO:0005085, GO:0001784, phosphorylation-dependent protein binding, metal ion binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, phosphotyrosine residue binding, GO:0072593, GO:0051897, GO:0051056, GO:0048010, GO:0046579, GO:0045954, GO:0043547, GO:0043087, GO:0043065, GO:0038096, GO:0038095, GO:0031295, GO:0030593, GO:0030217, GO:0030168, GO:0019221, GO:0008361, GO:0008361, GO:0007264, GO:0007229, GO:0007186, GO:0006955, reactive oxygen species metabolic process, positive regulation of protein kinase B signaling, regulation of small GTPase mediated signal transduction, vascular endothelial growth factor receptor signaling pathway, positive regulation of Ras protein signal transduction, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of GTPase activity, regulation of GTPase activity, positive regulation of apoptotic process, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, T cell costimulation, neutrophil chemotaxis, T cell differentiation, platelet activation, cytokine-mediated signaling pathway, regulation of cell size, regulation of cell size, small GTPase mediated signal transduction, integrin-mediated signaling pathway, G protein-coupled receptor signaling pathway, immune response, 1941 1966 2671 1534 2068 2105 1482 1743 1634 ENSG00000141971 chr19 17405722 17433724 + MVB12A protein_coding 93343 GO:0070062, GO:0043657, GO:0031982, GO:0031902, GO:0010008, GO:0005829, GO:0005829, GO:0005813, GO:0005794, GO:0005654, GO:0000813, GO:0000813, GO:0000813, extracellular exosome, host cell, vesicle, late endosome membrane, endosome membrane, cytosol, cytosol, centrosome, Golgi apparatus, nucleoplasm, ESCRT I complex, ESCRT I complex, ESCRT I complex, GO:0043130, GO:0017124, GO:0008289, GO:0005515, ubiquitin binding, SH3 domain binding, lipid binding, protein binding, GO:0075733, GO:0046755, GO:0046755, GO:0043162, GO:0042058, GO:0042058, GO:0039702, GO:0036258, GO:0032801, GO:0032510, GO:0019075, GO:0019075, GO:0019058, GO:0016236, GO:0016197, GO:0015031, intracellular transport of virus, viral budding, viral budding, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, regulation of epidermal growth factor receptor signaling pathway, regulation of epidermal growth factor receptor signaling pathway, viral budding via host ESCRT complex, multivesicular body assembly, receptor catabolic process, endosome to lysosome transport via multivesicular body sorting pathway, virus maturation, virus maturation, viral life cycle, macroautophagy, endosomal transport, protein transport, 73 82 65 53 93 94 67 77 68 ENSG00000141977 chr19 16161368 16173525 - CIB3 protein_coding This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 117286 GO:0005515, GO:0005509, GO:0000287, protein binding, calcium ion binding, magnesium ion binding, 42 65 60 50 99 95 103 71 40 ENSG00000141979 chr19 16479067 16628204 - AC008764.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000141985 chr19 4360370 4400547 - SH3GL1 protein_coding This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 6455 GO:0099092, GO:0098978, GO:0098793, GO:0098686, GO:0042995, GO:0031901, GO:0005829, GO:0005737, GO:0002102, postsynaptic density, intracellular component, glutamatergic synapse, presynapse, hippocampal mossy fiber to CA3 synapse, cell projection, early endosome membrane, cytosol, cytoplasm, podosome, GO:0051020, GO:0045296, GO:0044325, GO:0042802, GO:0031697, GO:0019902, GO:0017124, GO:0008289, GO:0008022, GO:0005515, GTPase binding, cadherin binding, ion channel binding, identical protein binding, beta-1 adrenergic receptor binding, phosphatase binding, SH3 domain binding, lipid binding, protein C-terminus binding, protein binding, GO:1900244, GO:0098815, GO:0016191, GO:0007417, GO:0007165, positive regulation of synaptic vesicle endocytosis, modulation of excitatory postsynaptic potential, synaptic vesicle uncoating, central nervous system development, signal transduction, 1609 1332 2162 529 555 712 761 651 675 ENSG00000141994 chr19 5784832 5791238 - DUS3L protein_coding 56931 GO:0050660, GO:0046872, GO:0017150, GO:0005515, GO:0003723, flavin adenine dinucleotide binding, metal ion binding, tRNA dihydrouridine synthase activity, protein binding, RNA binding, GO:0055114, GO:0002943, oxidation-reduction process, tRNA dihydrouridine synthesis, 20 34 59 117 118 125 124 89 82 ENSG00000142002 chr19 4675224 4724673 - DPP9 protein_coding This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008]. 91039 GO:0031252, GO:0005874, GO:0005829, GO:0005634, cell leading edge, microtubule, cytosol, nucleus, GO:0042802, GO:0008236, GO:0004177, identical protein binding, serine-type peptidase activity, aminopeptidase activity, GO:0006508, proteolysis, 341 362 370 352 339 439 337 311 442 ENSG00000142025 chr19 41844743 41852333 + DMRTC2 protein_coding 63946 GO:0005634, GO:0005575, GO:0001741, GO:0000785, nucleus, cellular_component, XY body, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1900114, GO:1900111, GO:0008150, GO:0007548, GO:0007290, GO:0007281, GO:0007141, GO:0006357, positive regulation of histone H3-K9 trimethylation, positive regulation of histone H3-K9 dimethylation, biological_process, sex differentiation, spermatid nucleus elongation, germ cell development, male meiosis I, regulation of transcription by RNA polymerase II, 22 34 4 23 61 19 40 34 14 ENSG00000142039 chr19 41310189 41324883 + CCDC97 protein_coding 90324 288 281 314 170 269 294 249 220 217 ENSG00000142046 chr19 41350911 41384083 + TMEM91 protein_coding 641649 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, GO:0002244, biological_process, hematopoietic progenitor cell differentiation, 259 319 469 135 374 363 189 404 358 ENSG00000142065 chr19 36334453 36379199 - ZFP14 protein_coding 57677 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0001835, regulation of transcription by RNA polymerase II, blastocyst hatching, 23 17 23 35 26 40 50 16 41 ENSG00000142082 chr11 215458 236931 - SIRT3 protein_coding SIRT3 encodes a member of the sirtuin family of class III histone deacetylases, homologs to the yeast Sir2 protein. The encoded protein is found exclusively in mitochondria, where it can eliminate reactive oxygen species, inhibit apoptosis, and prevent the formation of cancer cells. SIRT3 has far-reaching effects on nuclear gene expression, cancer, cardiovascular disease, neuroprotection, aging, and metabolic control. [provided by RefSeq, May 2019]. 23410 GO:0032991, GO:0005759, GO:0005759, GO:0005739, GO:0005654, GO:0005634, protein-containing complex, mitochondrial matrix, mitochondrial matrix, mitochondrion, nucleoplasm, nucleus, GO:0070403, GO:0043565, GO:0034979, GO:0019899, GO:0017136, GO:0008270, GO:0005515, GO:0003950, NAD+ binding, sequence-specific DNA binding, NAD-dependent protein deacetylase activity, enzyme binding, NAD-dependent histone deacetylase activity, zinc ion binding, protein binding, NAD+ ADP-ribosyltransferase activity, GO:2000378, GO:2000304, GO:1902553, GO:1901671, GO:0070373, GO:0034983, GO:0034983, GO:0032024, GO:0016575, GO:0009060, GO:0007568, GO:0007005, GO:0006476, GO:0006471, GO:0006471, negative regulation of reactive oxygen species metabolic process, positive regulation of ceramide biosynthetic process, positive regulation of catalase activity, positive regulation of superoxide dismutase activity, negative regulation of ERK1 and ERK2 cascade, peptidyl-lysine deacetylation, peptidyl-lysine deacetylation, positive regulation of insulin secretion, histone deacetylation, aerobic respiration, aging, mitochondrion organization, protein deacetylation, protein ADP-ribosylation, protein ADP-ribosylation, 37 53 48 89 94 101 73 68 37 ENSG00000142089 chr11 319669 327537 - IFITM3 protein_coding The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one of them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated isoform has been reported, but the full-length nature of this variant has not been determined. [provided by RefSeq, May 2012]. 10410 GO:0048471, GO:0032991, GO:0031902, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005765, perinuclear region of cytoplasm, protein-containing complex, late endosome membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, GO:0005515, protein binding, GO:0060337, GO:0060337, GO:0051607, GO:0051607, GO:0046597, GO:0046597, GO:0046597, GO:0045071, GO:0045071, GO:0035456, GO:0035456, GO:0035455, GO:0035455, GO:0034341, GO:0034341, GO:0032897, GO:0009615, GO:0006955, type I interferon signaling pathway, type I interferon signaling pathway, defense response to virus, defense response to virus, negative regulation of viral entry into host cell, negative regulation of viral entry into host cell, negative regulation of viral entry into host cell, negative regulation of viral genome replication, negative regulation of viral genome replication, response to interferon-beta, response to interferon-beta, response to interferon-alpha, response to interferon-alpha, response to interferon-gamma, response to interferon-gamma, negative regulation of viral transcription, response to virus, immune response, 6003 6708 5283 1888 5515 2465 2563 5592 2988 ENSG00000142102 chr11 289135 296107 + PGGHG protein_coding 80162 GO:0005829, GO:0005829, cytosol, cytosol, GO:0047402, GO:0047402, GO:0004553, protein-glucosylgalactosylhydroxylysine glucosidase activity, protein-glucosylgalactosylhydroxylysine glucosidase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0005975, GO:0005975, carbohydrate metabolic process, carbohydrate metabolic process, 4067 7470 6121 4317 9989 6635 4635 7560 5677 ENSG00000142149 chr21 31873315 32044633 + HUNK protein_coding 30811 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0035556, GO:0007275, GO:0007165, GO:0006468, intracellular signal transduction, multicellular organism development, signal transduction, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000142156 chr21 45981737 46005050 + COL6A1 protein_coding The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]. 1291 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0042383, GO:0032991, GO:0016020, GO:0005788, GO:0005765, GO:0005615, GO:0005589, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, sarcolemma, protein-containing complex, membrane, endoplasmic reticulum lumen, lysosomal membrane, extracellular space, collagen type VI trimer, extracellular region, extracellular region, extracellular region, GO:0048407, GO:0030020, GO:0030020, GO:0005518, platelet-derived growth factor binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, collagen binding, GO:0071230, GO:0035987, GO:0030198, GO:0007155, GO:0001649, cellular response to amino acid stimulus, endodermal cell differentiation, extracellular matrix organization, cell adhesion, osteoblast differentiation, 4 6 3 25 4 20 28 7 5 ENSG00000142163 chr17 3116427 3117374 + OR1E3 unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 8389 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000142166 chr21 33324477 33359862 + IFNAR1 protein_coding The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family and functions as an antiviral factor. [provided by RefSeq, Jul 2020]. 3454 GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005770, GO:0005764, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, late endosome, lysosome, GO:0019962, GO:0005515, GO:0004905, GO:0004896, type I interferon binding, protein binding, type I interferon receptor activity, cytokine receptor activity, GO:0060337, GO:0060337, GO:0035457, GO:0032496, GO:0019221, GO:0009615, GO:0007259, type I interferon signaling pathway, type I interferon signaling pathway, cellular response to interferon-alpha, response to lipopolysaccharide, cytokine-mediated signaling pathway, response to virus, receptor signaling pathway via JAK-STAT, 2886 2256 4061 620 1390 949 852 1246 986 ENSG00000142168 chr21 31659622 31668931 + SOD1 protein_coding The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020]. 6647 GO:1904115, GO:0070062, GO:0043025, GO:0032991, GO:0032839, GO:0031410, GO:0031045, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005777, GO:0005777, GO:0005777, GO:0005764, GO:0005759, GO:0005758, GO:0005739, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005576, axon cytoplasm, extracellular exosome, neuronal cell body, protein-containing complex, dendrite cytoplasm, cytoplasmic vesicle, dense core granule, plasma membrane, cytosol, cytosol, cytosol, peroxisome, peroxisome, peroxisome, lysosome, mitochondrial matrix, mitochondrial intermembrane space, mitochondrion, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, extracellular space, extracellular space, extracellular region, GO:0051087, GO:0042802, GO:0031267, GO:0030346, GO:0008270, GO:0005515, GO:0005507, GO:0005507, GO:0004784, GO:0004784, chaperone binding, identical protein binding, small GTPase binding, protein phosphatase 2B binding, zinc ion binding, protein binding, copper ion binding, copper ion binding, superoxide dismutase activity, superoxide dismutase activity, GO:1902177, GO:0097332, GO:0072593, GO:0071318, GO:0071276, GO:0060088, GO:0060087, GO:0060052, GO:0060047, GO:0055114, GO:0051881, GO:0050766, GO:0050728, GO:0050665, GO:0050665, GO:0048678, GO:0048538, GO:0046716, GO:0046688, GO:0046677, GO:0046620, GO:0045859, GO:0045541, GO:0045471, GO:0043524, GO:0043087, GO:0043085, GO:0043065, GO:0042554, GO:0042542, GO:0042493, GO:0040014, GO:0035865, GO:0035722, GO:0034599, GO:0034465, GO:0033081, GO:0032930, GO:0032287, GO:0031667, GO:0019430, GO:0019430, GO:0019430, GO:0019226, GO:0010033, GO:0009408, GO:0008217, GO:0008090, GO:0008089, GO:0007626, GO:0007605, GO:0007569, GO:0007566, GO:0007566, GO:0007283, GO:0006879, GO:0006801, GO:0006801, GO:0006749, GO:0002576, GO:0002262, GO:0001975, GO:0001895, GO:0001890, GO:0001819, GO:0001541, GO:0000303, GO:0000187, positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, response to antipsychotic drug, reactive oxygen species metabolic process, cellular response to ATP, cellular response to cadmium ion, auditory receptor cell stereocilium organization, relaxation of vascular associated smooth muscle, neurofilament cytoskeleton organization, heart contraction, oxidation-reduction process, regulation of mitochondrial membrane potential, positive regulation of phagocytosis, negative regulation of inflammatory response, hydrogen peroxide biosynthetic process, hydrogen peroxide biosynthetic process, response to axon injury, thymus development, muscle cell cellular homeostasis, response to copper ion, response to antibiotic, regulation of organ growth, regulation of protein kinase activity, negative regulation of cholesterol biosynthetic process, response to ethanol, negative regulation of neuron apoptotic process, regulation of GTPase activity, positive regulation of catalytic activity, positive regulation of apoptotic process, superoxide anion generation, response to hydrogen peroxide, response to drug, regulation of multicellular organism growth, cellular response to potassium ion, interleukin-12-mediated signaling pathway, cellular response to oxidative stress, response to carbon monoxide, regulation of T cell differentiation in thymus, positive regulation of superoxide anion generation, peripheral nervous system myelin maintenance, response to nutrient levels, removal of superoxide radicals, removal of superoxide radicals, removal of superoxide radicals, transmission of nerve impulse, response to organic substance, response to heat, regulation of blood pressure, retrograde axonal transport, anterograde axonal transport, locomotory behavior, sensory perception of sound, cell aging, embryo implantation, embryo implantation, spermatogenesis, cellular iron ion homeostasis, superoxide metabolic process, superoxide metabolic process, glutathione metabolic process, platelet degranulation, myeloid cell homeostasis, response to amphetamine, retina homeostasis, placenta development, positive regulation of cytokine production, ovarian follicle development, response to superoxide, activation of MAPK activity, 81 71 159 201 99 238 169 66 178 ENSG00000142173 chr21 46098097 46132849 + COL6A2 protein_coding This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]. 1292 GO:1903561, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0042383, GO:0032991, GO:0005788, GO:0005615, GO:0005615, GO:0005581, GO:0005576, GO:0005576, GO:0005576, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, sarcolemma, protein-containing complex, endoplasmic reticulum lumen, extracellular space, extracellular space, collagen trimer, extracellular region, extracellular region, extracellular region, GO:0030020, GO:0030020, GO:0030020, GO:0005518, GO:0005515, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, collagen binding, protein binding, GO:0030198, GO:0009749, GO:0007155, extracellular matrix organization, response to glucose, cell adhesion, 41 26 98 178 41 337 191 50 252 ENSG00000142178 chr21 43414483 43427189 - SIK1 protein_coding This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]. 150094 GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, cytoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0071889, GO:0019901, GO:0008140, GO:0005524, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, GO:0000287, protein threonine kinase activity, protein serine kinase activity, 14-3-3 protein binding, protein kinase binding, cAMP response element binding protein binding, ATP binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, magnesium ion binding, GO:2000210, GO:0055007, GO:0048511, GO:0046777, GO:0045721, GO:0045595, GO:0043153, GO:0042149, GO:0035556, GO:0035556, GO:0035556, GO:0032792, GO:0010868, GO:0010830, GO:0007346, GO:0007049, GO:0006468, GO:0006468, GO:0006468, GO:0002028, positive regulation of anoikis, cardiac muscle cell differentiation, rhythmic process, protein autophosphorylation, negative regulation of gluconeogenesis, regulation of cell differentiation, entrainment of circadian clock by photoperiod, cellular response to glucose starvation, intracellular signal transduction, intracellular signal transduction, intracellular signal transduction, negative regulation of CREB transcription factor activity, negative regulation of triglyceride biosynthetic process, regulation of myotube differentiation, regulation of mitotic cell cycle, cell cycle, protein phosphorylation, protein phosphorylation, protein phosphorylation, regulation of sodium ion transport, 13 7 10 39 25 41 30 23 18 ENSG00000142182 chr21 44246339 44262216 - DNMT3L protein_coding CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]. 29947 GO:0035098, GO:0005829, GO:0005634, GO:0005634, ESC/E(Z) complex, cytosol, nucleus, nucleus, GO:0046872, GO:0019899, GO:0008047, GO:0005515, metal ion binding, enzyme binding, enzyme activator activity, protein binding, GO:1905643, GO:1905642, GO:0048863, GO:0045892, GO:0043085, GO:0043046, GO:0032776, GO:0007283, GO:0007283, GO:0007141, GO:0006349, GO:0006306, positive regulation of DNA methylation, negative regulation of DNA methylation, stem cell differentiation, negative regulation of transcription, DNA-templated, positive regulation of catalytic activity, DNA methylation involved in gamete generation, DNA methylation on cytosine, spermatogenesis, spermatogenesis, male meiosis I, regulation of gene expression by genetic imprinting, DNA methylation, 0 0 0 0 0 0 0 0 0 ENSG00000142185 chr21 44350163 44443081 + TRPM2 protein_coding The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]. 7226 GO:0101003, GO:0070821, GO:0043204, GO:0042995, GO:0035579, GO:0030659, GO:0005887, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005765, GO:0005764, ficolin-1-rich granule membrane, tertiary granule membrane, perikaryon, cell projection, specific granule membrane, cytoplasmic vesicle membrane, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, lysosome, GO:0099604, GO:0099604, GO:0072571, GO:0047631, GO:0016787, GO:0015278, GO:0005509, GO:0005509, GO:0005272, GO:0005262, GO:0005261, GO:0005261, ligand-gated calcium channel activity, ligand-gated calcium channel activity, mono-ADP-D-ribose binding, ADP-ribose diphosphatase activity, hydrolase activity, calcium-release channel activity, calcium ion binding, calcium ion binding, sodium channel activity, calcium channel activity, cation channel activity, cation channel activity, GO:2000249, GO:0098703, GO:0098655, GO:0097553, GO:0097028, GO:0071577, GO:0071502, GO:0071415, GO:0071277, GO:0070838, GO:0070588, GO:0070588, GO:0070588, GO:0070301, GO:0051489, GO:0051289, GO:0051209, GO:0051209, GO:0051209, GO:0043312, GO:0035725, GO:0035584, GO:0014074, GO:0006816, GO:0002407, GO:0001659, regulation of actin cytoskeleton reorganization, calcium ion import across plasma membrane, cation transmembrane transport, calcium ion transmembrane import into cytosol, dendritic cell differentiation, zinc ion transmembrane transport, cellular response to temperature stimulus, cellular response to purine-containing compound, cellular response to calcium ion, divalent metal ion transport, calcium ion transmembrane transport, calcium ion transmembrane transport, calcium ion transmembrane transport, cellular response to hydrogen peroxide, regulation of filopodium assembly, protein homotetramerization, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, neutrophil degranulation, sodium ion transmembrane transport, calcium-mediated signaling using intracellular calcium source, response to purine-containing compound, calcium ion transport, dendritic cell chemotaxis, temperature homeostasis, 15 41 63 12 51 69 25 40 47 ENSG00000142186 chr11 65525077 65538704 + SCYL1 protein_coding This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 57410 GO:0030126, GO:0016020, GO:0005829, GO:0005815, GO:0005801, GO:0005794, GO:0005793, GO:0005737, GO:0005634, COPI vesicle coat, membrane, cytosol, microtubule organizing center, cis-Golgi network, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, cytoplasm, nucleus, GO:0045296, GO:0005524, GO:0004713, GO:0003677, cadherin binding, ATP binding, protein tyrosine kinase activity, DNA binding, GO:0048666, GO:0034613, GO:0021522, GO:0018108, GO:0006954, GO:0006890, neuron development, cellular protein localization, spinal cord motor neuron differentiation, peptidyl-tyrosine phosphorylation, inflammatory response, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 1269 1415 1442 665 1173 901 916 968 740 ENSG00000142188 chr21 33432485 33480011 - TMEM50B protein_coding 757 GO:0016021, GO:0005886, GO:0005789, GO:0005783, GO:0000139, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0032511, GO:0008150, late endosome to vacuole transport via multivesicular body sorting pathway, biological_process, 16 24 22 0 19 15 10 1 26 ENSG00000142192 chr21 25880550 26171128 - APP protein_coding This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]. 351 GO:1990812, GO:1990761, GO:0097449, GO:0070062, GO:0055037, GO:0051233, GO:0048471, GO:0045202, GO:0045177, GO:0045121, GO:0044304, GO:0043235, GO:0043204, GO:0043198, GO:0043197, GO:0035253, GO:0032588, GO:0031904, GO:0031594, GO:0031093, GO:0030424, GO:0030134, GO:0016021, GO:0009986, GO:0008021, GO:0005911, GO:0005905, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005798, GO:0005796, GO:0005794, GO:0005794, GO:0005791, GO:0005790, GO:0005788, GO:0005769, GO:0005768, GO:0005737, GO:0005737, GO:0005641, GO:0005615, GO:0005615, GO:0005576, growth cone filopodium, growth cone lamellipodium, astrocyte projection, extracellular exosome, recycling endosome, spindle midzone, perinuclear region of cytoplasm, synapse, apical part of cell, membrane raft, main axon, receptor complex, perikaryon, dendritic shaft, dendritic spine, ciliary rootlet, trans-Golgi network membrane, endosome lumen, neuromuscular junction, platelet alpha granule lumen, axon, COPII-coated ER to Golgi transport vesicle, integral component of membrane, cell surface, synaptic vesicle, cell-cell junction, clathrin-coated pit, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi-associated vesicle, Golgi lumen, Golgi apparatus, Golgi apparatus, rough endoplasmic reticulum, smooth endoplasmic reticulum, endoplasmic reticulum lumen, early endosome, endosome, cytoplasm, cytoplasm, nuclear envelope lumen, extracellular space, extracellular space, extracellular region, GO:0070851, GO:0051425, GO:0046914, GO:0042802, GO:0030546, GO:0019899, GO:0016504, GO:0008201, GO:0005515, GO:0005102, GO:0004867, GO:0003677, GO:0000978, growth factor receptor binding, PTB domain binding, transition metal ion binding, identical protein binding, signaling receptor activator activity, enzyme binding, peptidase activator activity, heparin binding, protein binding, signaling receptor binding, serine-type endopeptidase inhibitor activity, DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000406, GO:2000310, GO:1990535, GO:1990090, GO:1990000, GO:1905908, GO:1905606, GO:1905606, GO:1905598, GO:1904646, GO:1902004, GO:1901224, GO:1901224, GO:1900273, GO:1900272, GO:0150003, GO:0098815, GO:0090647, GO:0090647, GO:0090647, GO:0071874, GO:0071320, GO:0071287, GO:0071280, GO:0070555, GO:0070374, GO:0051563, GO:0051402, GO:0051247, GO:0051247, GO:0051124, GO:0051092, GO:0051091, GO:0050890, GO:0050885, GO:0050808, GO:0050803, GO:0050730, GO:0050729, GO:0048669, GO:0048169, GO:0048143, GO:0046330, GO:0045944, GO:0045931, GO:0045821, GO:0045665, GO:0045087, GO:0044267, GO:0043687, GO:0042327, GO:0040014, GO:0035235, GO:0033138, GO:0032760, GO:0032755, GO:0032731, GO:0032722, GO:0032640, GO:0032092, GO:0031175, GO:0030900, GO:0030198, GO:0030198, GO:0030111, GO:0016358, GO:0016322, GO:0016199, GO:0014005, GO:0010971, GO:0010952, GO:0010951, GO:0010800, GO:0010629, GO:0010628, GO:0010628, GO:0010468, GO:0010468, GO:0010288, GO:0009987, GO:0008542, GO:0008344, GO:0008285, GO:0008203, GO:0008088, GO:0007626, GO:0007617, GO:0007612, GO:0007611, GO:0007611, GO:0007611, GO:0007409, GO:0007219, GO:0007186, GO:0007176, GO:0007155, GO:0006979, GO:0006897, GO:0006878, GO:0006468, GO:0006417, GO:0006378, GO:0002576, GO:0002265, GO:0001967, GO:0001934, GO:0001934, GO:0001774, positive regulation of T cell migration, regulation of NMDA receptor activity, neuron projection maintenance, cellular response to nerve growth factor stimulus, amyloid fibril formation, positive regulation of amyloid fibril formation, regulation of presynapse assembly, regulation of presynapse assembly, negative regulation of low-density lipoprotein receptor activity, cellular response to amyloid-beta, positive regulation of amyloid-beta formation, positive regulation of NIK/NF-kappaB signaling, positive regulation of NIK/NF-kappaB signaling, positive regulation of long-term synaptic potentiation, negative regulation of long-term synaptic potentiation, regulation of spontaneous synaptic transmission, modulation of excitatory postsynaptic potential, modulation of age-related behavioral decline, modulation of age-related behavioral decline, modulation of age-related behavioral decline, cellular response to norepinephrine stimulus, cellular response to cAMP, cellular response to manganese ion, cellular response to copper ion, response to interleukin-1, positive regulation of ERK1 and ERK2 cascade, smooth endoplasmic reticulum calcium ion homeostasis, neuron apoptotic process, positive regulation of protein metabolic process, positive regulation of protein metabolic process, synaptic growth at neuromuscular junction, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, cognition, neuromuscular process controlling balance, synapse organization, regulation of synapse structure or activity, regulation of peptidyl-tyrosine phosphorylation, positive regulation of inflammatory response, collateral sprouting in absence of injury, regulation of long-term neuronal synaptic plasticity, astrocyte activation, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, positive regulation of glycolytic process, negative regulation of neuron differentiation, innate immune response, cellular protein metabolic process, post-translational protein modification, positive regulation of phosphorylation, regulation of multicellular organism growth, ionotropic glutamate receptor signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, positive regulation of chemokine production, tumor necrosis factor production, positive regulation of protein binding, neuron projection development, forebrain development, extracellular matrix organization, extracellular matrix organization, regulation of Wnt signaling pathway, dendrite development, neuron remodeling, axon midline choice point recognition, microglia development, positive regulation of G2/M transition of mitotic cell cycle, positive regulation of peptidase activity, negative regulation of endopeptidase activity, positive regulation of peptidyl-threonine phosphorylation, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, regulation of gene expression, regulation of gene expression, response to lead ion, cellular process, visual learning, adult locomotory behavior, negative regulation of cell population proliferation, cholesterol metabolic process, axo-dendritic transport, locomotory behavior, mating behavior, learning, learning or memory, learning or memory, learning or memory, axonogenesis, Notch signaling pathway, G protein-coupled receptor signaling pathway, regulation of epidermal growth factor-activated receptor activity, cell adhesion, response to oxidative stress, endocytosis, cellular copper ion homeostasis, protein phosphorylation, regulation of translation, mRNA polyadenylation, platelet degranulation, astrocyte activation involved in immune response, suckling behavior, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, microglial cell activation, 213 150 249 165 126 73 131 93 69 ENSG00000142197 chr21 36156782 36294274 + DOP1B protein_coding 9980 GO:0070062, GO:0005829, GO:0005802, GO:0005768, GO:0000139, extracellular exosome, cytosol, trans-Golgi network, endosome, Golgi membrane, GO:0003674, molecular_function, GO:0050890, GO:0015031, GO:0007275, GO:0007029, GO:0006895, cognition, protein transport, multicellular organism development, endoplasmic reticulum organization, Golgi to endosome transport, 402 561 512 242 474 369 271 320 263 ENSG00000142207 chr21 32311018 32393026 - URB1 protein_coding 9875 GO:0005730, GO:0005730, GO:0005730, GO:0001650, nucleolus, nucleolus, nucleolus, fibrillar center, GO:0003723, RNA binding, GO:0008150, GO:0000466, GO:0000463, biological_process, maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 19 22 44 47 3 70 39 10 70 ENSG00000142208 chr14 104769349 104795751 - AKT1 protein_coding This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. These AKT proteins therefore regulate a wide variety of cellular functions including cell proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. AKT proteins are recruited to the cell membrane by phosphatidylinositol 3,4,5-trisphosphate (PIP3) after phosphorylation of phosphatidylinositol 4,5-bisphosphate (PIP2) by PI3K. Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. Phosphorylation of additional residues also occurs, for example, in response to insulin growth factor-1 and epidermal growth factor. Protein phosphatases act as negative regulators of AKT proteins by dephosphorylating AKT or PIP3. The PI3K/AKT signalling pathway is crucial for tumor cell survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. Mutations in this gene are associated with multiple types of cancer and excessive tissue growth including Proteus syndrome and Cowden syndrome 6, and breast, colorectal, and ovarian cancers. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]. 207 GO:0098794, GO:0036064, GO:0032991, GO:0031982, GO:0031234, GO:0030027, GO:0015630, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005819, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, postsynapse, ciliary basal body, protein-containing complex, vesicle, extrinsic component of cytoplasmic side of plasma membrane, lamellipodium, microtubule cytoskeleton, cell-cell junction, plasma membrane, plasma membrane, cytosol, cytosol, spindle, mitochondrion, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0071889, GO:0051721, GO:0043325, GO:0042803, GO:0042802, GO:0032794, GO:0030235, GO:0019899, GO:0016301, GO:0005547, GO:0005524, GO:0005524, GO:0005516, GO:0005515, GO:0005080, GO:0004712, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, 14-3-3 protein binding, protein phosphatase 2A binding, phosphatidylinositol-3,4-bisphosphate binding, protein homodimerization activity, identical protein binding, GTPase activating protein binding, nitric-oxide synthase regulator activity, enzyme binding, kinase activity, phosphatidylinositol-3,4,5-trisphosphate binding, ATP binding, ATP binding, calmodulin binding, protein binding, protein kinase C binding, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2001240, GO:2000402, GO:2000010, GO:1990418, GO:1990090, GO:1903721, GO:1903078, GO:1903038, GO:1902176, GO:1901796, GO:1901215, GO:1900182, GO:1900087, GO:0140052, GO:0100002, GO:0097194, GO:0097011, GO:0090201, GO:0072656, GO:0072655, GO:0071901, GO:0071456, GO:0071407, GO:0071380, GO:0071364, GO:0071356, GO:0071276, GO:0071260, GO:0070141, GO:0060716, GO:0060644, GO:0060416, GO:0060079, GO:0051898, GO:0051146, GO:0051091, GO:0051000, GO:0050999, GO:0048661, GO:0048009, GO:0046889, GO:0046889, GO:0046777, GO:0046622, GO:0046329, GO:0046326, GO:0045944, GO:0045907, GO:0045893, GO:0045861, GO:0045792, GO:0045746, GO:0045742, GO:0045737, GO:0045725, GO:0045725, GO:0045600, GO:0045429, GO:0043536, GO:0043491, GO:0043491, GO:0043488, GO:0043276, GO:0043154, GO:0043066, GO:0043066, GO:0043065, GO:0042981, GO:0042593, GO:0038061, GO:0035924, GO:0035655, GO:0035556, GO:0035556, GO:0034614, GO:0034405, GO:0033138, GO:0032869, GO:0032869, GO:0032436, GO:0032287, GO:0032270, GO:0032148, GO:0032094, GO:0032091, GO:0032079, GO:0031999, GO:0031929, GO:0031663, GO:0031641, GO:0031397, GO:0031295, GO:0031018, GO:0030334, GO:0030334, GO:0030307, GO:0030212, GO:0030163, GO:0030154, GO:0030030, GO:0021510, GO:0019221, GO:0018107, GO:0018105, GO:0018105, GO:0018105, GO:0016567, GO:0016310, GO:0016242, GO:0014065, GO:0010975, GO:0010951, GO:0010918, GO:0010907, GO:0010765, GO:0010763, GO:0010761, GO:0010748, GO:0010629, GO:0010628, GO:0010628, GO:0010595, GO:0010507, GO:0009408, GO:0008643, GO:0008637, GO:0008286, GO:0008284, GO:0008283, GO:0007568, GO:0007281, GO:0007249, GO:0007186, GO:0007173, GO:0007165, GO:0006979, GO:0006974, GO:0006954, GO:0006924, GO:0006809, GO:0006606, GO:0006469, GO:0006469, GO:0006468, GO:0006417, GO:0006412, GO:0006006, GO:0005979, GO:0005978, GO:0003376, GO:0002042, GO:0001938, GO:0001934, GO:0001893, GO:0001649, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of lymphocyte migration, positive regulation of protein localization to cell surface, response to insulin-like growth factor stimulus, cellular response to nerve growth factor stimulus, positive regulation of I-kappaB phosphorylation, positive regulation of protein localization to plasma membrane, negative regulation of leukocyte cell-cell adhesion, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, regulation of signal transduction by p53 class mediator, negative regulation of neuron death, positive regulation of protein localization to nucleus, positive regulation of G1/S transition of mitotic cell cycle, cellular response to oxidised low-density lipoprotein particle stimulus, negative regulation of protein kinase activity by protein phosphorylation, execution phase of apoptosis, cellular response to granulocyte macrophage colony-stimulating factor stimulus, negative regulation of release of cytochrome c from mitochondria, maintenance of protein location in mitochondrion, establishment of protein localization to mitochondrion, negative regulation of protein serine/threonine kinase activity, cellular response to hypoxia, cellular response to organic cyclic compound, cellular response to prostaglandin E stimulus, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, cellular response to cadmium ion, cellular response to mechanical stimulus, response to UV-A, labyrinthine layer blood vessel development, mammary gland epithelial cell differentiation, response to growth hormone, excitatory postsynaptic potential, negative regulation of protein kinase B signaling, striated muscle cell differentiation, positive regulation of DNA-binding transcription factor activity, positive regulation of nitric-oxide synthase activity, regulation of nitric-oxide synthase activity, positive regulation of smooth muscle cell proliferation, insulin-like growth factor receptor signaling pathway, positive regulation of lipid biosynthetic process, positive regulation of lipid biosynthetic process, protein autophosphorylation, positive regulation of organ growth, negative regulation of JNK cascade, positive regulation of glucose import, positive regulation of transcription by RNA polymerase II, positive regulation of vasoconstriction, positive regulation of transcription, DNA-templated, negative regulation of proteolysis, negative regulation of cell size, negative regulation of Notch signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of glycogen biosynthetic process, positive regulation of glycogen biosynthetic process, positive regulation of fat cell differentiation, positive regulation of nitric oxide biosynthetic process, positive regulation of blood vessel endothelial cell migration, protein kinase B signaling, protein kinase B signaling, regulation of mRNA stability, anoikis, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, glucose homeostasis, NIK/NF-kappaB signaling, cellular response to vascular endothelial growth factor stimulus, interleukin-18-mediated signaling pathway, intracellular signal transduction, intracellular signal transduction, cellular response to reactive oxygen species, response to fluid shear stress, positive regulation of peptidyl-serine phosphorylation, cellular response to insulin stimulus, cellular response to insulin stimulus, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, peripheral nervous system myelin maintenance, positive regulation of cellular protein metabolic process, activation of protein kinase B activity, response to food, negative regulation of protein binding, positive regulation of endodeoxyribonuclease activity, negative regulation of fatty acid beta-oxidation, TOR signaling, lipopolysaccharide-mediated signaling pathway, regulation of myelination, negative regulation of protein ubiquitination, T cell costimulation, endocrine pancreas development, regulation of cell migration, regulation of cell migration, positive regulation of cell growth, hyaluronan metabolic process, protein catabolic process, cell differentiation, cell projection organization, spinal cord development, cytokine-mediated signaling pathway, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, protein ubiquitination, phosphorylation, negative regulation of macroautophagy, phosphatidylinositol 3-kinase signaling, regulation of neuron projection development, negative regulation of endopeptidase activity, positive regulation of mitochondrial membrane potential, positive regulation of glucose metabolic process, positive regulation of sodium ion transport, positive regulation of fibroblast migration, fibroblast migration, negative regulation of long-chain fatty acid import across plasma membrane, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of endothelial cell migration, negative regulation of autophagy, response to heat, carbohydrate transport, apoptotic mitochondrial changes, insulin receptor signaling pathway, positive regulation of cell population proliferation, cell population proliferation, aging, germ cell development, I-kappaB kinase/NF-kappaB signaling, G protein-coupled receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, response to oxidative stress, cellular response to DNA damage stimulus, inflammatory response, activation-induced cell death of T cells, nitric oxide biosynthetic process, protein import into nucleus, negative regulation of protein kinase activity, negative regulation of protein kinase activity, protein phosphorylation, regulation of translation, translation, glucose metabolic process, regulation of glycogen biosynthetic process, glycogen biosynthetic process, sphingosine-1-phosphate receptor signaling pathway, cell migration involved in sprouting angiogenesis, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, maternal placenta development, osteoblast differentiation, 2433 2283 2962 1455 2051 1833 1765 1817 1786 ENSG00000142224 chr1 206798870 206842981 + IL19 protein_coding The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 29949 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0005125, cytokine activity, GO:2001244, GO:2001237, GO:0072593, GO:0032635, GO:0019221, GO:0010989, GO:0007165, GO:0006955, GO:0006915, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway, reactive oxygen species metabolic process, interleukin-6 production, cytokine-mediated signaling pathway, negative regulation of low-density lipoprotein particle clearance, signal transduction, immune response, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000142227 chr19 48321509 48330553 + EMP3 protein_coding The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 2014 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0032060, GO:0008219, bleb assembly, cell death, 632 1309 1372 532 1321 1175 632 1298 1129 ENSG00000142230 chr19 47113274 47210636 + SAE1 protein_coding Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]. 10055 GO:0031510, GO:0031510, GO:0005737, GO:0005654, GO:0005634, SUMO activating enzyme complex, SUMO activating enzyme complex, cytoplasm, nucleoplasm, nucleus, GO:0046982, GO:0044388, GO:0043008, GO:0019948, GO:0008047, GO:0008022, GO:0005515, GO:0004839, protein heterodimerization activity, small protein activating enzyme binding, ATP-dependent protein binding, SUMO activating enzyme activity, enzyme activator activity, protein C-terminus binding, protein binding, ubiquitin activating enzyme activity, GO:1903955, GO:0043085, GO:0033235, GO:0032446, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016925, GO:0016567, positive regulation of protein targeting to mitochondrion, positive regulation of catalytic activity, positive regulation of protein sumoylation, protein modification by small protein conjugation, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, protein sumoylation, protein ubiquitination, 75 60 60 131 123 199 119 72 82 ENSG00000142233 chr19 48661407 48673081 - NTN5 protein_coding 126147 GO:0005604, basement membrane, GO:0005102, signaling receptor binding, GO:0022008, GO:0016358, GO:0009888, GO:0009887, GO:0008045, neurogenesis, dendrite development, tissue development, animal organ morphogenesis, motor neuron axon guidance, 0 0 1 4 3 0 4 0 2 ENSG00000142235 chr19 48485271 48513935 - LMTK3 protein_coding 114783 GO:0030425, GO:0030424, GO:0016021, GO:0005575, GO:0000139, dendrite, axon, integral component of membrane, cellular_component, Golgi membrane, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004672, GO:0003674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein kinase activity, molecular_function, GO:0010923, GO:0006468, negative regulation of phosphatase activity, protein phosphorylation, 14 10 29 26 11 21 21 8 14 ENSG00000142252 chr19 45079195 45091524 + GEMIN7 protein_coding The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear 'gems' (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 79760 GO:0120114, GO:0097504, GO:0034719, GO:0032797, GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, Sm-like protein family complex, Gemini of coiled bodies, SMN-Sm protein complex, SMN complex, nuclear body, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0051170, GO:0000398, GO:0000387, GO:0000387, GO:0000387, import into nucleus, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 83 67 71 76 72 105 80 80 103 ENSG00000142273 chr19 44777869 44800652 + CBLC protein_coding This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 23624 GO:0045121, GO:0005886, membrane raft, plasma membrane, GO:0061630, GO:0061630, GO:0030971, GO:0017124, GO:0017124, GO:0008270, GO:0005515, GO:0005509, GO:0005154, GO:0001784, ubiquitin protein ligase activity, ubiquitin protein ligase activity, receptor tyrosine kinase binding, SH3 domain binding, SH3 domain binding, zinc ion binding, protein binding, calcium ion binding, epidermal growth factor receptor binding, phosphotyrosine residue binding, GO:0043407, GO:0042059, GO:0016567, GO:0007175, GO:0007175, GO:0007166, GO:0007165, GO:0006511, negative regulation of MAP kinase activity, negative regulation of epidermal growth factor receptor signaling pathway, protein ubiquitination, negative regulation of epidermal growth factor-activated receptor activity, negative regulation of epidermal growth factor-activated receptor activity, cell surface receptor signaling pathway, signal transduction, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000142279 chr19 34481638 34512304 + WTIP protein_coding 126374 GO:0005912, GO:0005667, GO:0005634, GO:0000932, GO:0000932, adherens junction, transcription regulator complex, nucleus, P-body, P-body, GO:0046872, GO:0005515, GO:0003714, metal ion binding, protein binding, transcription corepressor activity, GO:2000637, GO:2000637, GO:1903507, GO:0035331, GO:0035331, GO:0035195, GO:0030030, GO:0022604, GO:0007010, GO:0007010, GO:0006355, GO:0001666, GO:0001666, positive regulation of gene silencing by miRNA, positive regulation of gene silencing by miRNA, negative regulation of nucleic acid-templated transcription, negative regulation of hippo signaling, negative regulation of hippo signaling, gene silencing by miRNA, cell projection organization, regulation of cell morphogenesis, cytoskeleton organization, cytoskeleton organization, regulation of transcription, DNA-templated, response to hypoxia, response to hypoxia, 1 0 3 4 0 0 0 0 0 ENSG00000142303 chr19 8580242 8610735 - ADAMTS10 protein_coding This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]. 81794 GO:0062023, GO:0031012, GO:0001527, collagen-containing extracellular matrix, extracellular matrix, microfibril, GO:0046872, GO:0005515, GO:0004222, GO:0003674, metal ion binding, protein binding, metalloendopeptidase activity, molecular_function, GO:0030198, GO:0008150, GO:0006508, extracellular matrix organization, biological_process, proteolysis, 18 20 28 61 17 38 59 17 20 ENSG00000142319 chr5 1392790 1445430 - SLC6A3 protein_coding This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]. 6531 GO:0045121, GO:0043025, GO:0043005, GO:0043005, GO:0042734, GO:0032809, GO:0030424, GO:0016600, GO:0016021, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, membrane raft, neuronal cell body, neuron projection, neuron projection, presynaptic membrane, neuronal cell body membrane, axon, flotillin complex, integral component of membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0051721, GO:0047485, GO:0046872, GO:0044877, GO:0035240, GO:0008504, GO:0008504, GO:0008504, GO:0008144, GO:0005515, GO:0005334, GO:0005330, GO:0005330, GO:0005326, GO:0005102, GO:0002020, protein phosphatase 2A binding, protein N-terminus binding, metal ion binding, protein-containing complex binding, dopamine binding, monoamine transmembrane transporter activity, monoamine transmembrane transporter activity, monoamine transmembrane transporter activity, drug binding, protein binding, norepinephrine:sodium symporter activity, dopamine:sodium symporter activity, dopamine:sodium symporter activity, neurotransmitter transmembrane transporter activity, signaling receptor binding, protease binding, GO:1990384, GO:0090494, GO:0090494, GO:0060134, GO:0051620, GO:0051591, GO:0051583, GO:0045471, GO:0042420, GO:0042416, GO:0042220, GO:0042136, GO:0042053, GO:0040018, GO:0035725, GO:0035094, GO:0021984, GO:0015874, GO:0015872, GO:0015844, GO:0010039, GO:0007626, GO:0007608, GO:0007595, GO:0007568, GO:0006836, hyaloid vascular plexus regression, dopamine uptake, dopamine uptake, prepulse inhibition, norepinephrine uptake, response to cAMP, dopamine uptake involved in synaptic transmission, response to ethanol, dopamine catabolic process, dopamine biosynthetic process, response to cocaine, neurotransmitter biosynthetic process, regulation of dopamine metabolic process, positive regulation of multicellular organism growth, sodium ion transmembrane transport, response to nicotine, adenohypophysis development, norepinephrine transport, dopamine transport, monoamine transport, response to iron ion, locomotory behavior, sensory perception of smell, lactation, aging, neurotransmitter transport, 0 0 0 0 0 0 0 0 0 ENSG00000142327 chr2 240565804 240581372 + RNPEPL1 protein_coding 57140 GO:0070006, GO:0070006, GO:0008270, metalloaminopeptidase activity, metalloaminopeptidase activity, zinc ion binding, GO:0006508, GO:0006508, proteolysis, proteolysis, 1125 1300 1627 576 824 764 645 682 699 ENSG00000142330 chr2 240586716 240617705 + CAPN10 protein_coding Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]. 11132 GO:0005886, GO:0005829, GO:0005829, GO:0005739, GO:0005737, plasma membrane, cytosol, cytosol, mitochondrion, cytoplasm, GO:0008092, GO:0005515, GO:0004198, GO:0004198, GO:0000149, cytoskeletal protein binding, protein binding, calcium-dependent cysteine-type endopeptidase activity, calcium-dependent cysteine-type endopeptidase activity, SNARE binding, GO:2000676, GO:0097050, GO:0046326, GO:0032869, GO:0032388, GO:0032024, GO:0031532, GO:0006921, GO:0006508, GO:0006508, positive regulation of type B pancreatic cell apoptotic process, type B pancreatic cell apoptotic process, positive regulation of glucose import, cellular response to insulin stimulus, positive regulation of intracellular transport, positive regulation of insulin secretion, actin cytoskeleton reorganization, cellular component disassembly involved in execution phase of apoptosis, proteolysis, proteolysis, 57 68 118 115 100 123 89 88 97 ENSG00000142347 chr19 8520790 8577577 - MYO1F protein_coding Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017]. 4542 GO:0031982, GO:0016461, GO:0015629, GO:0005902, GO:0005886, GO:0005737, vesicle, unconventional myosin complex, actin cytoskeleton, microvillus, plasma membrane, cytoplasm, GO:0051015, GO:0030898, GO:0005524, GO:0005516, GO:0005515, GO:0003779, GO:0000146, actin filament binding, actin-dependent ATPase activity, ATP binding, calmodulin binding, protein binding, actin binding, microfilament motor activity, GO:0030050, GO:0008150, GO:0007015, vesicle transport along actin filament, biological_process, actin filament organization, 25225 26351 30252 21050 27714 25751 22745 20060 21338 ENSG00000142396 chr19 58305319 58315663 + ERVK3-1 protein_coding 680 968 704 1795 3054 2408 2017 2277 1712 ENSG00000142405 chr19 53793603 53824394 - NLRP12 protein_coding This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. 91662 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0008656, GO:0005524, GO:0005515, cysteine-type endopeptidase activator activity involved in apoptotic process, ATP binding, protein binding, GO:1901224, GO:1901223, GO:0071345, GO:0070373, GO:0050729, GO:0050728, GO:0045751, GO:0045345, GO:0045345, GO:0043281, GO:0043281, GO:0043124, GO:0043124, GO:0043122, GO:0036336, GO:0032731, GO:0032715, GO:0032692, GO:0032661, GO:0032088, GO:0031953, GO:0009968, GO:0007165, GO:0006919, GO:0001818, positive regulation of NIK/NF-kappaB signaling, negative regulation of NIK/NF-kappaB signaling, cellular response to cytokine stimulus, negative regulation of ERK1 and ERK2 cascade, positive regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of Toll signaling pathway, positive regulation of MHC class I biosynthetic process, positive regulation of MHC class I biosynthetic process, regulation of cysteine-type endopeptidase activity involved in apoptotic process, regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, dendritic cell migration, positive regulation of interleukin-1 beta production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 production, regulation of interleukin-18 production, negative regulation of NF-kappaB transcription factor activity, negative regulation of protein autophosphorylation, negative regulation of signal transduction, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cytokine production, 1286 1368 1916 686 1273 1157 948 919 1065 ENSG00000142408 chr19 53963040 53990215 + CACNG8 protein_coding The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]. 59283 GO:1990454, GO:0098839, GO:0032281, GO:0032281, GO:0030666, GO:0014069, GO:0005891, GO:0005886, L-type voltage-gated calcium channel complex, postsynaptic density membrane, AMPA glutamate receptor complex, AMPA glutamate receptor complex, endocytic vesicle membrane, postsynaptic density, voltage-gated calcium channel complex, plasma membrane, GO:0016247, GO:0005246, GO:0005245, GO:0005245, channel regulator activity, calcium channel regulator activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:2000311, GO:2000311, GO:0099590, GO:0098970, GO:0098943, GO:0070588, GO:0061337, GO:0051968, GO:0019226, GO:0006816, regulation of AMPA receptor activity, regulation of AMPA receptor activity, neurotransmitter receptor internalization, postsynaptic neurotransmitter receptor diffusion trapping, neurotransmitter receptor transport, postsynaptic endosome to lysosome, calcium ion transmembrane transport, cardiac conduction, positive regulation of synaptic transmission, glutamatergic, transmission of nerve impulse, calcium ion transport, 12 44 47 0 0 0 0 3 1 ENSG00000142409 chr19 56087366 56121280 - ZNF787 protein_coding 126208 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0043565, GO:0000981, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 739 537 850 278 310 312 308 271 334 ENSG00000142444 chr19 10928733 10933535 + TIMM29 protein_coding 90580 GO:0042721, GO:0042721, GO:0016021, GO:0005758, GO:0005743, TIM22 mitochondrial import inner membrane insertion complex, TIM22 mitochondrial import inner membrane insertion complex, integral component of membrane, mitochondrial intermembrane space, mitochondrial inner membrane, GO:0005515, protein binding, GO:0045039, GO:0045039, protein insertion into mitochondrial inner membrane, protein insertion into mitochondrial inner membrane, 22 34 34 39 28 56 18 23 23 ENSG00000142449 chr19 8065402 8149846 - FBN3 protein_coding This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]. 84467 GO:0031012, extracellular matrix, GO:0005509, GO:0005201, calcium ion binding, extracellular matrix structural constituent, GO:0009653, anatomical structure morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000142453 chr19 10871513 10923070 + CARM1 protein_coding This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013]. 10498 GO:0090575, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, RNA polymerase II transcription regulator complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0070577, GO:0042803, GO:0042054, GO:0035642, GO:0035242, GO:0030374, GO:0016274, GO:0016274, GO:0016274, GO:0008469, GO:0008276, GO:0008013, GO:0005515, GO:0003713, GO:0000976, lysine-acetylated histone binding, protein homodimerization activity, histone methyltransferase activity, histone methyltransferase activity (H3-R17 specific), protein-arginine omega-N asymmetric methyltransferase activity, nuclear receptor coactivator activity, protein-arginine N-methyltransferase activity, protein-arginine N-methyltransferase activity, protein-arginine N-methyltransferase activity, histone-arginine N-methyltransferase activity, protein methyltransferase activity, beta-catenin binding, protein binding, transcription coactivator activity, transcription regulatory region sequence-specific DNA binding, GO:2000171, GO:1902415, GO:0071168, GO:0060350, GO:0051591, GO:0051092, GO:0045944, GO:0045600, GO:0034971, GO:0034970, GO:0033146, GO:0032091, GO:0030520, GO:0019919, GO:0019216, GO:0016571, GO:0016571, GO:0016032, GO:0008284, GO:0007568, GO:0006977, GO:0006355, GO:0003420, negative regulation of dendrite development, regulation of mRNA binding, protein localization to chromatin, endochondral bone morphogenesis, response to cAMP, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of fat cell differentiation, histone H3-R17 methylation, histone H3-R2 methylation, regulation of intracellular estrogen receptor signaling pathway, negative regulation of protein binding, intracellular estrogen receptor signaling pathway, peptidyl-arginine methylation, to asymmetrical-dimethyl arginine, regulation of lipid metabolic process, histone methylation, histone methylation, viral process, positive regulation of cell population proliferation, aging, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription, DNA-templated, regulation of growth plate cartilage chondrocyte proliferation, 29 43 41 98 63 120 86 61 67 ENSG00000142459 chr19 7830233 7864976 + EVI5L protein_coding 115704 GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902018, GO:0090630, GO:0043547, GO:0006886, negative regulation of cilium assembly, activation of GTPase activity, positive regulation of GTPase activity, intracellular protein transport, 73 55 82 60 57 49 66 42 67 ENSG00000142484 chr17 4771884 4783213 + TM4SF5 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]. 9032 GO:0016021, GO:0005887, GO:0005886, GO:0005765, integral component of membrane, integral component of plasma membrane, plasma membrane, lysosomal membrane, GO:0034618, GO:0005515, arginine binding, protein binding, GO:2000045, GO:0007049, regulation of G1/S transition of mitotic cell cycle, cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000142494 chr17 19495385 19579034 + SLC47A1 protein_coding This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]. 55244 GO:0031982, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0005886, GO:0005886, vesicle, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0061459, GO:0042910, GO:0042887, GO:0022857, GO:0015297, GO:0015179, GO:0005515, L-arginine transmembrane transporter activity, xenobiotic transmembrane transporter activity, amide transmembrane transporter activity, transmembrane transporter activity, antiporter activity, L-amino acid transmembrane transporter activity, protein binding, GO:1902475, GO:0097638, GO:0089718, GO:0055085, GO:0042908, GO:0042886, GO:0015695, L-alpha-amino acid transmembrane transport, L-arginine import across plasma membrane, amino acid import across plasma membrane, transmembrane transport, xenobiotic transport, amide transport, organic cation transport, 1 2 6 2 6 0 0 5 0 ENSG00000142507 chr17 4796144 4798503 + PSMB6 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 5694 GO:0070062, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000502, extracellular exosome, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0045296, GO:0005515, GO:0004298, GO:0004175, GO:0004175, cadherin binding, protein binding, threonine-type endopeptidase activity, endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 87 84 96 44 82 60 65 61 89 ENSG00000142511 chr19 50770464 50771732 + GPR32 protein_coding This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. The encoded protein binds to resolvin D1 and lipoxin A4 and has been linked to pulmonary inflammation. A related pseudogene has been identified on chromosome 19. [provided by RefSeq, Nov 2012]. 2854 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0004982, GO:0004930, GO:0004875, N-formyl peptide receptor activity, G protein-coupled receptor activity, complement receptor activity, GO:0007204, GO:0007200, GO:0007186, GO:0006954, GO:0002430, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, complement receptor mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000142512 chr19 51410021 51417803 - SIGLEC10 protein_coding SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]. 89790 GO:0016021, GO:0005886, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, plasma membrane, extracellular region, GO:0042169, GO:0033691, GO:0030246, GO:0019902, GO:0005515, SH2 domain binding, sialic acid binding, carbohydrate binding, phosphatase binding, protein binding, GO:0106015, GO:0045087, GO:0007155, GO:0002250, negative regulation of inflammatory response to wounding, innate immune response, cell adhesion, adaptive immune response, 2699 2548 2536 815 1150 710 914 1116 728 ENSG00000142513 chr19 50790415 50795224 + ACP4 protein_coding Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 93650 GO:0045211, GO:0016021, GO:0005764, postsynaptic membrane, integral component of membrane, lysosome, GO:0030971, GO:0030971, GO:0016791, GO:0004725, GO:0004725, GO:0003993, receptor tyrosine kinase binding, receptor tyrosine kinase binding, phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, acid phosphatase activity, GO:1990264, GO:1990264, GO:0120154, GO:0120154, GO:0048168, GO:0048168, GO:0042476, GO:0016311, GO:0010977, GO:0010955, GO:0007040, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, negative regulation of ERBB4 signaling pathway, negative regulation of ERBB4 signaling pathway, regulation of neuronal synaptic plasticity, regulation of neuronal synaptic plasticity, odontogenesis, dephosphorylation, negative regulation of neuron projection development, negative regulation of protein processing, lysosome organization, 0 0 0 1 0 5 0 0 0 ENSG00000142515 chr19 50854915 50860764 + KLK3 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. It encodes a single-chain glycoprotein, a protease which is synthesized in the epithelial cells of the prostate gland, and is present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. The serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]. 354 GO:0070062, GO:0032991, GO:0030141, GO:0005634, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, protein-containing complex, secretory granule, nucleus, extracellular space, extracellular region, extracellular region, GO:0016811, GO:0008236, GO:0005515, GO:0004252, GO:0004175, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, endopeptidase activity, GO:0044267, GO:0031638, GO:0016525, GO:0006508, GO:0003073, GO:0002778, cellular protein metabolic process, zymogen activation, negative regulation of angiogenesis, proteolysis, regulation of systemic arterial blood pressure, antibacterial peptide production, 0 0 0 0 0 0 0 0 0 ENSG00000142528 chr19 50025714 50053414 + ZNF473 protein_coding This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]. 25888 GO:0015030, GO:0005654, GO:0005654, GO:0005634, Cajal body, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0008334, GO:0006398, GO:0006369, GO:0006357, positive regulation of transcription by RNA polymerase II, histone mRNA metabolic process, mRNA 3'-end processing by stem-loop binding and cleavage, termination of RNA polymerase II transcription, regulation of transcription by RNA polymerase II, 176 127 160 207 131 224 176 103 166 ENSG00000142530 chr19 50466785 50476753 - FAM71E1 protein_coding 112703 12 15 26 18 7 38 30 13 16 ENSG00000142534 chr19 49496365 49499689 + RPS11 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]. 6205 GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005925, GO:0005840, GO:0005829, GO:0005737, GO:0005730, GO:0005654, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, focal adhesion, ribosome, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:0019843, GO:0005515, GO:0003735, GO:0003723, rRNA binding, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 2190 1598 2443 3255 2589 3894 2595 2304 2767 ENSG00000142538 chr19 49422414 49423441 - PTH2 protein_coding This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the release of pituitary hormones, anxiety and nociception. The encoded precursor protein is proteolytically processed to generate the biologically active neuropeptide. [provided by RefSeq, Jul 2015]. 113091 GO:0005576, extracellular region, GO:0007218, GO:0007186, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000142539 chr19 50415799 50428409 + AC020909.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000142541 chr19 49487554 49492308 + RPL13A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 23521 GO:1990904, GO:0097452, GO:0022625, GO:0022625, GO:0016020, GO:0015934, GO:0005925, GO:0005840, GO:0005829, GO:0005737, GO:0005730, GO:0005634, ribonucleoprotein complex, GAIT complex, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, large ribosomal subunit, focal adhesion, ribosome, cytosol, cytoplasm, nucleolus, nucleus, GO:0003735, GO:0003735, GO:0003729, GO:0003723, structural constituent of ribosome, structural constituent of ribosome, mRNA binding, RNA binding, GO:1901194, GO:0071346, GO:0019083, GO:0017148, GO:0017148, GO:0017148, GO:0006614, GO:0006413, GO:0006412, GO:0000184, negative regulation of formation of translation preinitiation complex, cellular response to interferon-gamma, viral transcription, negative regulation of translation, negative regulation of translation, negative regulation of translation, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 2409 1717 3657 6845 3390 7860 5312 2793 5038 ENSG00000142544 chr19 51097606 51108370 - CTU1 protein_coding 90353 GO:0005829, GO:0005829, GO:0002144, cytosol, cytosol, cytosolic tRNA wobble base thiouridylase complex, GO:0016779, GO:0005515, GO:0000049, nucleotidyltransferase activity, protein binding, tRNA binding, GO:0034227, GO:0032447, GO:0006400, GO:0002143, GO:0002098, tRNA thio-modification, protein urmylation, tRNA modification, tRNA wobble position uridine thiolation, tRNA wobble uridine modification, 4 4 6 14 20 26 9 18 4 ENSG00000142546 chr19 49555711 49590262 - NOSIP protein_coding The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]. 51070 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000139, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, Golgi membrane, GO:0061630, GO:0005515, GO:0003723, ubiquitin protein ligase activity, protein binding, RNA binding, GO:0051001, GO:0050999, GO:0043086, GO:0016567, GO:0007275, negative regulation of nitric-oxide synthase activity, regulation of nitric-oxide synthase activity, negative regulation of catalytic activity, protein ubiquitination, multicellular organism development, 397 325 412 479 474 521 454 388 361 ENSG00000142549 chr19 51311848 51330354 + IGLON5 protein_coding 402665 GO:0005576, extracellular region, 0 0 0 0 2 0 0 1 0 ENSG00000142552 chr19 49527618 49546962 + RCN3 protein_coding 57333 GO:0005788, GO:0005783, GO:0005783, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0005509, GO:0005509, protein binding, calcium ion binding, calcium ion binding, GO:0060428, GO:0055091, GO:0051896, GO:0043129, GO:0036503, GO:0032964, GO:0015031, GO:0010952, GO:0009306, lung epithelium development, phospholipid homeostasis, regulation of protein kinase B signaling, surfactant homeostasis, ERAD pathway, collagen biosynthetic process, protein transport, positive regulation of peptidase activity, protein secretion, 516 654 1158 1064 1574 2265 1099 919 2074 ENSG00000142556 chr19 52012765 52030240 - ZNF614 protein_coding 80110 GO:0005575, GO:0000785, cellular_component, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, molecular_function, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0000122, biological_process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 20 30 38 41 16 35 30 16 24 ENSG00000142583 chr1 9035107 9088478 - SLC2A5 protein_coding The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]. 6518 GO:0070062, GO:0042383, GO:0035579, GO:0016324, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, sarcolemma, specific granule membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0070061, GO:0005515, GO:0005355, GO:0005353, GO:0005353, GO:0005353, fructose binding, protein binding, glucose transmembrane transporter activity, fructose transmembrane transporter activity, fructose transmembrane transporter activity, fructose transmembrane transporter activity, GO:1990539, GO:1904659, GO:0106001, GO:0071332, GO:0043312, GO:0015755, GO:0015755, GO:0009750, GO:0005975, GO:0003044, fructose import across plasma membrane, glucose transmembrane transport, intestinal hexose absorption, cellular response to fructose stimulus, neutrophil degranulation, fructose transmembrane transport, fructose transmembrane transport, response to fructose, carbohydrate metabolic process, regulation of systemic arterial blood pressure mediated by a chemical signal, 1 4 4 7 6 21 10 5 10 ENSG00000142599 chr1 8352397 8817643 - RERE protein_coding This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 473 GO:0005634, GO:0005634, GO:0000118, nucleus, nucleus, histone deacetylase complex, GO:0043565, GO:0008270, GO:0005515, GO:0003714, GO:0003713, GO:0003682, GO:0001085, sequence-specific DNA binding, zinc ion binding, protein binding, transcription corepressor activity, transcription coactivator activity, chromatin binding, RNA polymerase II transcription factor binding, GO:1903508, GO:1903507, GO:0048813, GO:0048755, GO:0021942, GO:0021930, GO:0021691, GO:0006355, GO:0006338, positive regulation of nucleic acid-templated transcription, negative regulation of nucleic acid-templated transcription, dendrite morphogenesis, branching morphogenesis of a nerve, radial glia guided migration of Purkinje cell, cerebellar granule cell precursor proliferation, cerebellar Purkinje cell layer maturation, regulation of transcription, DNA-templated, chromatin remodeling, 3766 4022 4245 3292 4665 4390 3624 3367 4163 ENSG00000142606 chr1 2590639 2632990 - MMEL1 protein_coding The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]. 79258 GO:0016021, GO:0016020, GO:0005886, GO:0005615, integral component of membrane, membrane, plasma membrane, extracellular space, GO:0046872, GO:0004222, GO:0004222, GO:0004175, metal ion binding, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:0016485, GO:0006508, protein processing, proteolysis, 0 1 0 0 0 0 0 0 0 ENSG00000142609 chr1 1921951 2003837 - CFAP74 protein_coding 85452 GO:0005930, axoneme, GO:0035082, axoneme assembly, 0 0 0 0 0 0 0 0 0 ENSG00000142611 chr1 3069168 3438621 + PRDM16 protein_coding The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 63976 GO:0017053, GO:0016235, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, transcription repressor complex, aggresome, cytosol, cytosol, nucleoplasm, nucleus, nucleus, GO:0046974, GO:0046872, GO:0046332, GO:0043565, GO:0033613, GO:0005515, GO:0003713, GO:0003712, GO:0001228, GO:0001227, GO:0000978, GO:0000976, histone methyltransferase activity (H3-K9 specific), metal ion binding, SMAD binding, sequence-specific DNA binding, activating transcription factor binding, protein binding, transcription coactivator activity, transcription coregulator activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0120162, GO:0090336, GO:0070828, GO:0060021, GO:0051567, GO:0050873, GO:0050872, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0043586, GO:0043457, GO:0035019, GO:0030512, GO:0030512, GO:0022008, GO:0006357, GO:0000122, positive regulation of cold-induced thermogenesis, positive regulation of brown fat cell differentiation, heterochromatin organization, roof of mouth development, histone H3-K9 methylation, brown fat cell differentiation, white fat cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, tongue development, regulation of cellular respiration, somatic stem cell population maintenance, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, neurogenesis, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000142615 chr1 15456728 15472091 + CELA2A protein_coding Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009]. 63036 GO:0036457, GO:0005829, GO:0005615, GO:0005576, GO:0005576, keratohyalin granule, cytosol, extracellular space, extracellular region, extracellular region, GO:0017171, GO:0005515, GO:0004252, GO:0004175, serine hydrolase activity, protein binding, serine-type endopeptidase activity, endopeptidase activity, GO:1901143, GO:0090330, GO:0070268, GO:0050796, GO:0032868, GO:0006508, insulin catabolic process, regulation of platelet aggregation, cornification, regulation of insulin secretion, response to insulin, proteolysis, 1 0 3 4 3 5 0 2 5 ENSG00000142619 chr1 17249098 17284233 + PADI3 protein_coding This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]. 51702 GO:0005829, GO:0005737, GO:0005737, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, GO:0042802, GO:0005515, GO:0005509, GO:0004668, GO:0004668, identical protein binding, protein binding, calcium ion binding, protein-arginine deiminase activity, protein-arginine deiminase activity, GO:0036414, GO:0018101, GO:0006325, histone citrullination, protein citrullination, chromatin organization, 0 0 0 0 0 0 0 0 0 ENSG00000142621 chr1 15247272 15400283 + FHAD1 protein_coding 114827 2 4 4 2 6 1 1 4 8 ENSG00000142623 chr1 17205126 17246005 + PADI1 protein_coding This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]. 29943 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0005509, GO:0004668, GO:0004668, calcium ion binding, protein-arginine deiminase activity, protein-arginine deiminase activity, GO:0036414, GO:0018101, GO:0006325, histone citrullination, protein citrullination, chromatin organization, 0 0 0 1 0 0 0 0 0 ENSG00000142627 chr1 16124337 16156087 - EPHA2 protein_coding This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]. 1969 GO:0070160, GO:0043235, GO:0043005, GO:0032587, GO:0031258, GO:0031256, GO:0030027, GO:0009986, GO:0009986, GO:0005925, GO:0005925, GO:0005887, GO:0005887, GO:0005886, GO:0005886, tight junction, receptor complex, neuron projection, ruffle membrane, lamellipodium membrane, leading edge membrane, lamellipodium, cell surface, cell surface, focal adhesion, focal adhesion, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0045296, GO:0005524, GO:0005515, GO:0005005, GO:0004714, GO:0004714, GO:0001618, cadherin binding, ATP binding, protein binding, transmembrane-ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, virus receptor activity, GO:1904238, GO:1903348, GO:1903078, GO:1901491, GO:0090630, GO:0072659, GO:0070848, GO:0070372, GO:0070309, GO:0060444, GO:0060326, GO:0060035, GO:0051898, GO:0050830, GO:0048870, GO:0048320, GO:0048013, GO:0048013, GO:0046849, GO:0046718, GO:0046058, GO:0045765, GO:0043535, GO:0043491, GO:0036342, GO:0033674, GO:0033628, GO:0033598, GO:0032682, GO:0030316, GO:0030216, GO:0021915, GO:0018108, GO:0016525, GO:0016477, GO:0014028, GO:0010591, GO:0008630, GO:0007411, GO:0007275, GO:0007169, GO:0007155, GO:0006954, GO:0002043, GO:0001649, GO:0001570, GO:0001501, pericyte cell differentiation, positive regulation of bicellular tight junction assembly, positive regulation of protein localization to plasma membrane, negative regulation of lymphangiogenesis, activation of GTPase activity, protein localization to plasma membrane, response to growth factor, regulation of ERK1 and ERK2 cascade, lens fiber cell morphogenesis, branching involved in mammary gland duct morphogenesis, cell chemotaxis, notochord cell development, negative regulation of protein kinase B signaling, defense response to Gram-positive bacterium, cell motility, axial mesoderm formation, ephrin receptor signaling pathway, ephrin receptor signaling pathway, bone remodeling, viral entry into host cell, cAMP metabolic process, regulation of angiogenesis, regulation of blood vessel endothelial cell migration, protein kinase B signaling, post-anal tail morphogenesis, positive regulation of kinase activity, regulation of cell adhesion mediated by integrin, mammary gland epithelial cell proliferation, negative regulation of chemokine production, osteoclast differentiation, keratinocyte differentiation, neural tube development, peptidyl-tyrosine phosphorylation, negative regulation of angiogenesis, cell migration, notochord formation, regulation of lamellipodium assembly, intrinsic apoptotic signaling pathway in response to DNA damage, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, inflammatory response, blood vessel endothelial cell proliferation involved in sprouting angiogenesis, osteoblast differentiation, vasculogenesis, skeletal system development, 0 0 0 0 1 0 1 0 0 ENSG00000142632 chr1 16197854 16212609 - ARHGEF19 protein_coding Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]. 128272 GO:0005829, cytosol, GO:0005515, GO:0005096, GO:0005085, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0090630, GO:0060071, GO:0051056, GO:0043065, GO:0042060, GO:0032956, GO:0032956, GO:0007186, activation of GTPase activity, Wnt signaling pathway, planar cell polarity pathway, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, wound healing, regulation of actin cytoskeleton organization, regulation of actin cytoskeleton organization, G protein-coupled receptor signaling pathway, 3 1 15 17 5 9 11 1 8 ENSG00000142634 chr1 15409895 15430343 + EFHD2 protein_coding 79180 GO:0045121, membrane raft, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, 15421 12571 20391 3215 7650 5562 4509 7252 5829 ENSG00000142655 chr1 10472288 10630758 + PEX14 protein_coding This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]. 5195 GO:1990429, GO:0032991, GO:0032991, GO:0016021, GO:0016020, GO:0005778, GO:0005778, GO:0005778, GO:0005778, GO:0005778, GO:0005777, GO:0005634, GO:0001650, peroxisomal importomer complex, protein-containing complex, protein-containing complex, integral component of membrane, membrane, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, nucleus, fibrillar center, GO:0048487, GO:0047485, GO:0042802, GO:0008017, GO:0005515, GO:0005102, GO:0005102, GO:0003714, beta-tubulin binding, protein N-terminus binding, identical protein binding, microtubule binding, protein binding, signaling receptor binding, signaling receptor binding, transcription corepressor activity, GO:0065003, GO:0045892, GO:0044721, GO:0043433, GO:0036250, GO:0034453, GO:0032091, GO:0016567, GO:0016561, GO:0016560, GO:0016558, GO:0007031, GO:0007031, GO:0006625, protein-containing complex assembly, negative regulation of transcription, DNA-templated, protein import into peroxisome matrix, substrate release, negative regulation of DNA-binding transcription factor activity, peroxisome transport along microtubule, microtubule anchoring, negative regulation of protein binding, protein ubiquitination, protein import into peroxisome matrix, translocation, protein import into peroxisome matrix, docking, protein import into peroxisome matrix, peroxisome organization, peroxisome organization, protein targeting to peroxisome, 16 31 22 39 23 53 28 11 40 ENSG00000142657 chr1 10398592 10420144 + PGD protein_coding 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]. 5226 GO:0070062, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, cytosol, cytosol, nucleus, GO:0050661, GO:0004616, GO:0004616, NADP binding, phosphogluconate dehydrogenase (decarboxylating) activity, phosphogluconate dehydrogenase (decarboxylating) activity, GO:0055114, GO:0046177, GO:0019322, GO:0009051, GO:0009051, GO:0006098, GO:0006098, oxidation-reduction process, D-gluconate catabolic process, pentose biosynthetic process, pentose-phosphate shunt, oxidative branch, pentose-phosphate shunt, oxidative branch, pentose-phosphate shunt, pentose-phosphate shunt, 3173 2575 3535 995 1952 1646 1318 1802 1571 ENSG00000142661 chr1 24056035 24112175 - MYOM3 protein_coding 127294 GO:0031430, GO:0031430, M band, M band, GO:0051015, GO:0042803, actin filament binding, protein homodimerization activity, GO:0006936, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000142669 chr1 26279176 26281522 + SH3BGRL3 protein_coding 83442 GO:0070062, GO:0016604, GO:0005737, extracellular exosome, nuclear body, cytoplasm, GO:0015035, GO:0009055, GO:0005515, protein disulfide oxidoreductase activity, electron transfer activity, protein binding, GO:0022900, electron transport chain, 4477 4905 5866 1955 4466 3446 2745 3988 3729 ENSG00000142675 chr1 26177403 26189886 + CNKSR1 protein_coding This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 10256 GO:0005938, GO:0005911, GO:0005886, cell cortex, cell-cell junction, plasma membrane, GO:0030674, GO:0005515, protein-macromolecule adaptor activity, protein binding, GO:0007266, GO:0007265, GO:0007169, Rho protein signal transduction, Ras protein signal transduction, transmembrane receptor protein tyrosine kinase signaling pathway, 1 1 4 5 0 13 4 1 1 ENSG00000142676 chr1 23691742 23696835 + RPL11 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]. 6135 GO:0070062, GO:0042788, GO:0032991, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005654, extracellular exosome, polysomal ribosome, protein-containing complex, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, cytoplasm, cytoplasm, nucleolus, nucleolus, nucleoplasm, GO:1990948, GO:0031625, GO:0008097, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, ubiquitin ligase inhibitor activity, ubiquitin protein ligase binding, 5S rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:2000435, GO:2000059, GO:1904667, GO:1902255, GO:1901796, GO:0050821, GO:0042273, GO:0034504, GO:0032435, GO:0032092, GO:0019083, GO:0010628, GO:0006614, GO:0006605, GO:0006413, GO:0006412, GO:0006364, GO:0002181, GO:0000184, GO:0000027, GO:0000027, negative regulation of protein neddylation, negative regulation of ubiquitin-dependent protein catabolic process, negative regulation of ubiquitin protein ligase activity, positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator, regulation of signal transduction by p53 class mediator, protein stabilization, ribosomal large subunit biogenesis, protein localization to nucleus, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, viral transcription, positive regulation of gene expression, SRP-dependent cotranslational protein targeting to membrane, protein targeting, translational initiation, translation, rRNA processing, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal large subunit assembly, ribosomal large subunit assembly, 1315 1043 1647 2804 1547 3103 2071 1366 2174 ENSG00000142677 chr1 24119771 24143121 - IL22RA1 protein_coding The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008]. 58985 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0042015, GO:0005515, GO:0004904, GO:0004896, interleukin-20 binding, protein binding, interferon receptor activity, cytokine receptor activity, GO:0050829, GO:0019221, GO:0019221, GO:0008150, defense response to Gram-negative bacterium, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000142684 chr1 26169871 26170873 + ZNF593 protein_coding 51042 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:1903026, GO:0045944, negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding, positive regulation of transcription by RNA polymerase II, 7 6 1 16 16 18 11 6 9 ENSG00000142686 chr1 35713875 35719472 - C1orf216 protein_coding 127703 GO:0005515, protein binding, 20 10 19 25 7 36 12 10 19 ENSG00000142687 chr1 35433490 35557950 - KIAA0319L protein_coding This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]. 79932 GO:0031410, GO:0031410, GO:0016021, GO:0005886, GO:0005794, GO:0005730, GO:0000139, cytoplasmic vesicle, cytoplasmic vesicle, integral component of membrane, plasma membrane, Golgi apparatus, nucleolus, Golgi membrane, GO:0005515, protein binding, GO:0016032, viral process, 874 1070 1016 877 1354 1124 991 1097 958 ENSG00000142694 chr1 36322031 36324154 - EVA1B protein_coding 55194 GO:0016021, integral component of membrane, GO:0005515, protein binding, 349 261 404 67 90 61 80 117 105 ENSG00000142698 chr1 34166883 34219131 + C1orf94 protein_coding 84970 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000142700 chr1 50417550 50423500 - DMRTA2 protein_coding 63950 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071542, GO:0048665, GO:0035914, GO:0021796, GO:0007548, GO:0006357, GO:0002052, dopaminergic neuron differentiation, neuron fate specification, skeletal muscle cell differentiation, cerebral cortex regionalization, sex differentiation, regulation of transcription by RNA polymerase II, positive regulation of neuroblast proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000142731 chr4 127880861 127899195 + PLK4 protein_coding This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 10733 GO:0098536, GO:0032154, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005730, GO:0005634, GO:0001741, GO:0000922, deuterosome, cleavage furrow, cytosol, cytosol, centriole, centrosome, centrosome, cytoplasm, nucleolus, nucleus, XY body, spindle pole, GO:0042802, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, identical protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0098535, GO:0097711, GO:0060707, GO:0046601, GO:0046601, GO:0032465, GO:0010389, GO:0007099, GO:0006468, GO:0000278, GO:0000086, de novo centriole assembly involved in multi-ciliated epithelial cell differentiation, ciliary basal body-plasma membrane docking, trophoblast giant cell differentiation, positive regulation of centriole replication, positive regulation of centriole replication, regulation of cytokinesis, regulation of G2/M transition of mitotic cell cycle, centriole replication, protein phosphorylation, mitotic cell cycle, G2/M transition of mitotic cell cycle, 2 7 6 19 4 12 6 4 13 ENSG00000142733 chr1 27355184 27366892 - MAP3K6 protein_coding This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 9064 GO:0005524, GO:0004709, GO:0004709, GO:0004672, GO:0000287, ATP binding, MAP kinase kinase kinase activity, MAP kinase kinase kinase activity, protein kinase activity, magnesium ion binding, GO:0033554, GO:0007257, GO:0007165, GO:0006468, GO:0000186, cellular response to stress, activation of JUN kinase activity, signal transduction, protein phosphorylation, activation of MAPKK activity, 18 48 53 40 61 76 33 26 66 ENSG00000142748 chr1 27369112 27374824 - FCN3 protein_coding Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]. 8547 GO:0072562, GO:0062023, GO:0005615, GO:0005581, GO:0005576, GO:0005576, blood microparticle, collagen-containing extracellular matrix, extracellular space, collagen trimer, extracellular region, extracellular region, GO:0046872, GO:0030246, GO:0005515, GO:0003823, metal ion binding, carbohydrate binding, protein binding, antigen binding, GO:1902679, GO:0051607, GO:0046597, GO:0043654, GO:0006956, GO:0006956, GO:0001867, GO:0001867, negative regulation of RNA biosynthetic process, defense response to virus, negative regulation of viral entry into host cell, recognition of apoptotic cell, complement activation, complement activation, complement activation, lectin pathway, complement activation, lectin pathway, 0 0 0 0 0 0 0 1 0 ENSG00000142751 chr1 26876133 26890297 - GPN2 protein_coding 54707 GO:0005575, cellular_component, GO:0005525, GO:0005515, GO:0003924, GO:0003674, GTP binding, protein binding, GTPase activity, molecular_function, GO:0008150, biological_process, 124 194 181 187 220 296 183 152 210 ENSG00000142765 chr1 27342020 27353937 + SYTL1 protein_coding 84958 GO:0070382, GO:0070062, GO:0042470, GO:0031528, GO:0019897, GO:0005886, GO:0005886, exocytic vesicle, extracellular exosome, melanosome, microvillus membrane, extrinsic component of plasma membrane, plasma membrane, plasma membrane, GO:0042043, GO:0042043, GO:0031267, GO:0005515, neurexin family protein binding, neurexin family protein binding, small GTPase binding, protein binding, GO:0006887, GO:0006887, GO:0006886, exocytosis, exocytosis, intracellular protein transport, 681 598 986 847 683 961 798 556 873 ENSG00000142784 chr1 27234516 27308633 + WDTC1 protein_coding 23038 GO:0080008, GO:0005829, GO:0005737, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, cytosol, cytoplasm, nucleoplasm, GO:0042826, GO:0042393, GO:0005515, GO:0004857, histone deacetylase binding, histone binding, protein binding, enzyme inhibitor activity, GO:0055082, GO:0045717, GO:0043687, GO:0043086, GO:0035264, GO:0032869, GO:0016567, GO:0008361, GO:0006006, GO:0001701, GO:0000122, cellular chemical homeostasis, negative regulation of fatty acid biosynthetic process, post-translational protein modification, negative regulation of catalytic activity, multicellular organism growth, cellular response to insulin stimulus, protein ubiquitination, regulation of cell size, glucose metabolic process, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 1981 2146 2484 804 1291 1083 1116 1245 1170 ENSG00000142789 chr1 22001656 22012539 + CELA3A protein_coding Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008]. 10136 GO:0005615, extracellular space, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000142794 chr1 21440128 21485005 + NBPF3 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]. 84224 GO:0005737, cytoplasm, 17 15 35 27 15 50 3 22 27 ENSG00000142798 chr1 21822245 21937297 - HSPG2 protein_coding This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]. 3339 GO:0098797, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0043202, GO:0005925, GO:0005886, GO:0005796, GO:0005615, GO:0005604, GO:0005604, GO:0005576, GO:0005576, plasma membrane protein complex, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, focal adhesion, plasma membrane, Golgi lumen, extracellular space, basement membrane, basement membrane, extracellular region, extracellular region, GO:0050750, GO:0030021, GO:0030021, GO:0008022, GO:0005515, GO:0005509, GO:0001540, low-density lipoprotein particle receptor binding, extracellular matrix structural constituent conferring compression resistance, extracellular matrix structural constituent conferring compression resistance, protein C-terminus binding, protein binding, calcium ion binding, amyloid-beta binding, GO:0072359, GO:0044267, GO:0030198, GO:0030154, GO:0016525, GO:0009888, GO:0009887, GO:0007420, GO:0006954, GO:0006898, GO:0006629, GO:0006027, GO:0006024, GO:0001525, GO:0001523, circulatory system development, cellular protein metabolic process, extracellular matrix organization, cell differentiation, negative regulation of angiogenesis, tissue development, animal organ morphogenesis, brain development, inflammatory response, receptor-mediated endocytosis, lipid metabolic process, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, angiogenesis, retinoid metabolic process, 1 3 5 9 4 6 17 2 3 ENSG00000142856 chr1 63440770 63593721 - ITGB3BP protein_coding This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 23421 GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000777, membrane, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, condensed chromosome kinetochore, GO:0008022, GO:0005515, protein C-terminus binding, protein binding, GO:0051301, GO:0043065, GO:0034080, GO:0007165, GO:0007155, GO:0007049, GO:0006915, GO:0006355, cell division, positive regulation of apoptotic process, CENP-A containing nucleosome assembly, signal transduction, cell adhesion, cell cycle, apoptotic process, regulation of transcription, DNA-templated, 47 40 82 52 15 53 47 30 39 ENSG00000142864 chr1 67407810 67430415 - SERBP1 protein_coding 26135 GO:0070062, GO:0048471, GO:0016020, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0045296, GO:0032183, GO:0005515, GO:0003730, GO:0003730, GO:0003723, GO:0003723, cadherin binding, SUMO binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, RNA binding, RNA binding, GO:0043488, GO:0042981, GO:0030578, regulation of mRNA stability, regulation of apoptotic process, PML body organization, 396 366 543 468 310 598 421 277 378 ENSG00000142867 chr1 85265776 85276904 - BCL10 protein_coding This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 8915 GO:0048471, GO:0045121, GO:0032991, GO:0032449, GO:0032449, GO:0032449, GO:0005881, GO:0005829, GO:0005829, GO:0005829, GO:0005764, GO:0005737, GO:0005634, GO:0002096, GO:0001772, perinuclear region of cytoplasm, membrane raft, protein-containing complex, CBM complex, CBM complex, CBM complex, cytoplasmic microtubule, cytosol, cytosol, cytosol, lysosome, cytoplasm, nucleus, polkadots, immunological synapse, GO:0051059, GO:0051059, GO:0050700, GO:0044877, GO:0043621, GO:0043422, GO:0043422, GO:0042802, GO:0042802, GO:0031625, GO:0019901, GO:0019900, GO:0019899, GO:0019209, GO:0019209, GO:0008134, GO:0008022, GO:0005515, GO:0003713, GO:0003713, GO:0002020, NF-kappaB binding, NF-kappaB binding, CARD domain binding, protein-containing complex binding, protein self-association, protein kinase B binding, protein kinase B binding, identical protein binding, identical protein binding, ubiquitin protein ligase binding, protein kinase binding, kinase binding, enzyme binding, kinase activator activity, kinase activator activity, transcription factor binding, protein C-terminus binding, protein binding, transcription coactivator activity, transcription coactivator activity, protease binding, GO:2001238, GO:2001238, GO:0071260, GO:0071222, GO:0070231, GO:0051092, GO:0050870, GO:0050856, GO:0050852, GO:0050852, GO:0045893, GO:0045087, GO:0043280, GO:0043123, GO:0043065, GO:0042327, GO:0038095, GO:0033674, GO:0032765, GO:0032761, GO:0032757, GO:0032755, GO:0032094, GO:0031663, GO:0031398, GO:0016567, GO:0016064, GO:0009620, GO:0008219, GO:0007249, GO:0006968, GO:0002906, GO:0002250, GO:0002250, GO:0002250, GO:0002224, GO:0002223, GO:0001843, GO:0001783, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, cellular response to mechanical stimulus, cellular response to lipopolysaccharide, T cell apoptotic process, positive regulation of NF-kappaB transcription factor activity, positive regulation of T cell activation, regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, positive regulation of transcription, DNA-templated, innate immune response, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, positive regulation of phosphorylation, Fc-epsilon receptor signaling pathway, positive regulation of kinase activity, positive regulation of mast cell cytokine production, positive regulation of lymphotoxin A production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, response to food, lipopolysaccharide-mediated signaling pathway, positive regulation of protein ubiquitination, protein ubiquitination, immunoglobulin mediated immune response, response to fungus, cell death, I-kappaB kinase/NF-kappaB signaling, cellular defense response, negative regulation of mature B cell apoptotic process, adaptive immune response, adaptive immune response, adaptive immune response, toll-like receptor signaling pathway, stimulatory C-type lectin receptor signaling pathway, neural tube closure, B cell apoptotic process, 1042 1007 1322 719 941 1251 830 762 926 ENSG00000142871 chr1 85580761 85583962 + CYR61 protein_coding The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]. 3491 GO:0062023, GO:0031012, GO:0005788, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, GO:0050840, GO:0008201, GO:0005520, GO:0005515, GO:0005201, GO:0005178, extracellular matrix binding, heparin binding, insulin-like growth factor binding, protein binding, extracellular matrix structural constituent, integrin binding, GO:2000304, GO:0072593, GO:0070372, GO:0061036, GO:0060716, GO:0060710, GO:0060591, GO:0060548, GO:0060413, GO:0045944, GO:0045860, GO:0045669, GO:0044319, GO:0044267, GO:0043687, GO:0043280, GO:0043066, GO:0033690, GO:0030513, GO:0030501, GO:0030335, GO:0030198, GO:0010811, GO:0010518, GO:0007165, GO:0007155, GO:0006935, GO:0003281, GO:0003278, GO:0003181, GO:0002041, GO:0001934, GO:0001649, positive regulation of ceramide biosynthetic process, reactive oxygen species metabolic process, regulation of ERK1 and ERK2 cascade, positive regulation of cartilage development, labyrinthine layer blood vessel development, chorio-allantoic fusion, chondroblast differentiation, negative regulation of cell death, atrial septum morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of protein kinase activity, positive regulation of osteoblast differentiation, wound healing, spreading of cells, cellular protein metabolic process, post-translational protein modification, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of osteoblast proliferation, positive regulation of BMP signaling pathway, positive regulation of bone mineralization, positive regulation of cell migration, extracellular matrix organization, positive regulation of cell-substrate adhesion, positive regulation of phospholipase activity, signal transduction, cell adhesion, chemotaxis, ventricular septum development, apoptotic process involved in heart morphogenesis, atrioventricular valve morphogenesis, intussusceptive angiogenesis, positive regulation of protein phosphorylation, osteoblast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000142875 chr1 84078062 84238498 + PRKACB protein_coding The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]. 5567 GO:0097546, GO:0070062, GO:0048471, GO:0045171, GO:0005952, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005654, GO:0005634, ciliary base, extracellular exosome, perinuclear region of cytoplasm, intercellular bridge, cAMP-dependent protein kinase complex, plasma membrane, cytosol, cytosol, centrosome, nucleoplasm, nucleus, GO:0034237, GO:0031625, GO:0005524, GO:0005515, GO:0004691, GO:0004679, GO:0000287, protein kinase A regulatory subunit binding, ubiquitin protein ligase binding, ATP binding, protein binding, cAMP-dependent protein kinase activity, AMP-activated protein kinase activity, magnesium ion binding, GO:1901621, GO:0097338, GO:0071377, GO:0070613, GO:0051447, GO:0034380, GO:0034199, GO:0010737, GO:0007596, GO:0007188, GO:0007165, GO:0006468, GO:0003091, GO:0002223, GO:0001843, negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, response to clozapine, cellular response to glucagon stimulus, regulation of protein processing, negative regulation of meiotic cell cycle, high-density lipoprotein particle assembly, activation of protein kinase A activity, protein kinase A signaling, blood coagulation, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, signal transduction, protein phosphorylation, renal water homeostasis, stimulatory C-type lectin receptor signaling pathway, neural tube closure, 81 62 200 322 138 416 242 105 265 ENSG00000142892 chr1 77088990 77219430 - PIGK protein_coding This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]. 10026 GO:0042765, GO:0042765, GO:0042765, GO:0016020, GO:0005789, GPI-anchor transamidase complex, GPI-anchor transamidase complex, GPI-anchor transamidase complex, membrane, endoplasmic reticulum membrane, GO:0034235, GO:0005515, GO:0003923, GO:0003923, GO:0003923, GO:0003756, GPI anchor binding, protein binding, GPI-anchor transamidase activity, GPI-anchor transamidase activity, GPI-anchor transamidase activity, protein disulfide isomerase activity, GO:0034394, GO:0016255, GO:0016255, GO:0006508, protein localization to cell surface, attachment of GPI anchor to protein, attachment of GPI anchor to protein, proteolysis, 98 72 119 84 71 102 87 62 118 ENSG00000142910 chr1 31576485 31587686 + TINAGL1 protein_coding The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 64129 GO:0070062, GO:0062023, GO:0062023, GO:0005764, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosome, extracellular space, extracellular space, extracellular region, GO:0043236, GO:0008234, GO:0005515, GO:0005201, GO:0005201, laminin binding, cysteine-type peptidase activity, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0016197, GO:0006508, endosomal transport, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000142920 chr1 33081104 33120530 + AZIN2 protein_coding The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]. 113451 GO:1990005, GO:0048471, GO:0043204, GO:0033116, GO:0031410, GO:0030425, GO:0030424, GO:0030133, GO:0005829, GO:0005829, GO:0005802, GO:0005801, GO:0005739, GO:0005737, GO:0005634, granular vesicle, perinuclear region of cytoplasm, perikaryon, endoplasmic reticulum-Golgi intermediate compartment membrane, cytoplasmic vesicle, dendrite, axon, transport vesicle, cytosol, cytosol, trans-Golgi network, cis-Golgi network, mitochondrion, cytoplasm, nucleus, GO:0042978, GO:0042978, GO:0042978, GO:0008792, GO:0005515, GO:0004586, ornithine decarboxylase activator activity, ornithine decarboxylase activator activity, ornithine decarboxylase activator activity, arginine decarboxylase activity, protein binding, ornithine decarboxylase activity, GO:1902269, GO:1902269, GO:0098629, GO:0097055, GO:0043085, GO:0043085, GO:0042177, GO:0042177, GO:0033387, GO:0007283, positive regulation of polyamine transmembrane transport, positive regulation of polyamine transmembrane transport, trans-Golgi network membrane organization, agmatine biosynthetic process, positive regulation of catalytic activity, positive regulation of catalytic activity, negative regulation of protein catabolic process, negative regulation of protein catabolic process, putrescine biosynthetic process from ornithine, spermatogenesis, 6 1 7 19 9 6 25 14 16 ENSG00000142937 chr1 44775251 44778779 + RPS8 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6202 GO:1990904, GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005925, GO:0005829, GO:0005829, GO:0005783, GO:0005654, GO:0005634, ribonucleoprotein complex, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, focal adhesion, cytosol, cytosol, endoplasmic reticulum, nucleoplasm, nucleus, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000462, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 925 586 1332 2909 1239 2923 2001 1124 2104 ENSG00000142945 chr1 44739818 44767767 + KIF2C protein_coding This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 11004 GO:0035371, GO:0035371, GO:0016020, GO:0015630, GO:0005881, GO:0005874, GO:0005871, GO:0005829, GO:0005819, GO:0005813, GO:0005634, GO:0000777, GO:0000776, GO:0000776, GO:0000775, microtubule plus-end, microtubule plus-end, membrane, microtubule cytoskeleton, cytoplasmic microtubule, microtubule, kinesin complex, cytosol, spindle, centrosome, nucleus, condensed chromosome kinetochore, kinetochore, kinetochore, chromosome, centromeric region, GO:0051010, GO:0019237, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, microtubule plus-end binding, centromeric DNA binding, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0051983, GO:0051315, GO:0051310, GO:0051301, GO:0030951, GO:0019886, GO:0007080, GO:0007019, GO:0007019, GO:0007019, GO:0007018, GO:0007018, GO:0006890, regulation of chromosome segregation, attachment of mitotic spindle microtubules to kinetochore, metaphase plate congression, cell division, establishment or maintenance of microtubule cytoskeleton polarity, antigen processing and presentation of exogenous peptide antigen via MHC class II, mitotic metaphase plate congression, microtubule depolymerization, microtubule depolymerization, microtubule depolymerization, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 4 4 7 2 1 3 2 1 6 ENSG00000142949 chr1 43525187 43623666 + PTPRF protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]. 5792 GO:0070062, GO:0043025, GO:0043005, GO:0005887, GO:0005886, extracellular exosome, neuronal cell body, neuron projection, integral component of plasma membrane, plasma membrane, GO:0050839, GO:0044877, GO:0035373, GO:0008201, GO:0005001, GO:0004725, GO:0004725, GO:0004725, cell adhesion molecule binding, protein-containing complex binding, chondroitin sulfate proteoglycan binding, heparin binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1900121, GO:0099560, GO:0099560, GO:0099560, GO:0048679, GO:0035335, GO:0035335, GO:0031102, GO:0016477, GO:0007185, GO:0007155, GO:0006470, negative regulation of receptor binding, synaptic membrane adhesion, synaptic membrane adhesion, synaptic membrane adhesion, regulation of axon regeneration, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, neuron projection regeneration, cell migration, transmembrane receptor protein tyrosine phosphatase signaling pathway, cell adhesion, protein dephosphorylation, 0 0 0 3 2 0 0 0 0 ENSG00000142959 chr1 44783585 44787705 - BEST4 protein_coding This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008]. 266675 GO:0034707, GO:0005886, chloride channel complex, plasma membrane, GO:0005254, GO:0003674, chloride channel activity, molecular_function, GO:1902476, GO:0008150, chloride transmembrane transport, biological_process, 6 7 2 10 14 9 9 7 10 ENSG00000142961 chr1 46607715 46616891 - MOB3C protein_coding The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 148932 GO:0046872, GO:0005515, metal ion binding, protein binding, 446 361 1307 129 138 209 130 115 201 ENSG00000142973 chr1 46757838 46819413 + CYP4B1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]. 1580 GO:0005789, endoplasmic reticulum membrane, GO:0070330, GO:0020037, GO:0019825, GO:0018585, GO:0015643, GO:0008144, GO:0005506, aromatase activity, heme binding, oxygen binding, fluorene oxygenase activity, toxic substance binding, drug binding, iron ion binding, GO:0055114, GO:0042738, GO:0018917, GO:0018879, oxidation-reduction process, exogenous drug catabolic process, fluorene metabolic process, biphenyl metabolic process, 0 0 0 1 0 0 0 0 0 ENSG00000143001 chr1 54980792 54992293 + TMEM61 protein_coding 199964 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000143006 chr1 53459399 53467488 + DMRTB1 protein_coding 63948 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007548, GO:0007281, GO:0006357, GO:0006357, sex differentiation, germ cell development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000143013 chr1 87328468 87348923 + LMO4 protein_coding This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008]. 8543 GO:0031252, GO:0005667, cell leading edge, transcription regulator complex, GO:0046872, GO:0008134, GO:0005515, GO:0000987, metal ion binding, transcription factor binding, protein binding, cis-regulatory region sequence-specific DNA binding, GO:0050865, GO:0048538, GO:0045944, GO:0042659, GO:0033674, GO:0031333, GO:0030334, GO:0021527, GO:0021522, GO:0021514, GO:0006366, GO:0003281, GO:0001843, regulation of cell activation, thymus development, positive regulation of transcription by RNA polymerase II, regulation of cell fate specification, positive regulation of kinase activity, negative regulation of protein-containing complex assembly, regulation of cell migration, spinal cord association neuron differentiation, spinal cord motor neuron differentiation, ventral spinal cord interneuron differentiation, transcription by RNA polymerase II, ventricular septum development, neural tube closure, 77 36 104 90 101 103 76 99 80 ENSG00000143028 chr1 109466628 109482137 + SYPL2 protein_coding 284612 GO:0030672, GO:0016021, synaptic vesicle membrane, integral component of membrane, GO:0017075, syntaxin-1 binding, GO:0033292, GO:0021762, GO:0007507, GO:0006874, T-tubule organization, substantia nigra development, heart development, cellular calcium ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000143032 chr1 90711539 90717237 - BARHL2 protein_coding 343472 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045727, GO:0030516, GO:0030182, GO:0006357, GO:0001764, GO:0001709, positive regulation of transcription by RNA polymerase II, positive regulation of translation, regulation of axon extension, neuron differentiation, regulation of transcription by RNA polymerase II, neuron migration, cell fate determination, 0 0 0 0 0 0 0 0 0 ENSG00000143033 chr1 93079235 93139081 + MTF2 protein_coding 22823 GO:0035098, GO:0035098, GO:0005925, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, ESC/E(Z) complex, ESC/E(Z) complex, focal adhesion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0035064, GO:0035064, GO:0003682, GO:0003677, GO:0001226, GO:0000977, metal ion binding, methylated histone binding, methylated histone binding, chromatin binding, DNA binding, RNA polymerase II transcription corepressor binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1990830, GO:0061087, GO:0061086, GO:0048863, GO:0045944, GO:0045814, GO:0019827, GO:0007379, GO:0006355, GO:0006325, GO:0000122, cellular response to leukemia inhibitory factor, positive regulation of histone H3-K27 methylation, negative regulation of histone H3-K27 methylation, stem cell differentiation, positive regulation of transcription by RNA polymerase II, negative regulation of gene expression, epigenetic, stem cell population maintenance, segment specification, regulation of transcription, DNA-templated, chromatin organization, negative regulation of transcription by RNA polymerase II, 194 176 256 190 153 206 196 105 162 ENSG00000143036 chr1 94820342 94895246 + SLC44A3 protein_coding 126969 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, GO:0055085, GO:0006656, transmembrane transport, transmembrane transport, phosphatidylcholine biosynthetic process, 1 0 1 3 1 7 0 1 0 ENSG00000143061 chr1 116574399 116667755 - IGSF3 protein_coding The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]. 3321 GO:0016021, GO:0009986, integral component of membrane, cell surface, GO:0003674, molecular_function, GO:0032808, lacrimal gland development, 1 0 1 2 0 0 0 4 0 ENSG00000143067 chr1 119619422 119647773 - ZNF697 protein_coding 90874 GO:0005575, GO:0000785, cellular_component, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0000981, GO:0000978, metal ion binding, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 157 84 133 60 33 66 66 12 30 ENSG00000143079 chr1 112396181 112463456 + CTTNBP2NL protein_coding 55917 GO:0030027, GO:0015629, GO:0015629, GO:0005737, lamellipodium, actin cytoskeleton, actin cytoskeleton, cytoplasm, GO:0051721, GO:0051721, GO:0005515, protein phosphatase 2A binding, protein phosphatase 2A binding, protein binding, GO:0034763, GO:0032410, GO:0006470, GO:0006470, negative regulation of transmembrane transport, negative regulation of transporter activity, protein dephosphorylation, protein dephosphorylation, 2 2 4 3 2 0 0 2 0 ENSG00000143093 chr1 110031577 110074641 + STRIP1 protein_coding This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 85369 GO:0070062, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, cytosol, cytosol, nucleus, GO:0031267, GO:0019901, GO:0005515, GO:0003674, small GTPase binding, protein kinase binding, protein binding, molecular_function, GO:0030866, GO:0022604, GO:0007010, cortical actin cytoskeleton organization, regulation of cell morphogenesis, cytoskeleton organization, 387 395 456 365 379 410 342 293 270 ENSG00000143105 chr1 110517217 110519175 - KCNA10 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]. 3744 GO:0016021, GO:0008076, GO:0005886, GO:0005886, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0005515, GO:0005251, GO:0005249, GO:0005249, GO:0005221, protein binding, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, intracellular cyclic nucleotide activated cation channel activity, GO:0071805, GO:0051260, GO:0034765, GO:0006813, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000143106 chr1 109399031 109426427 - PSMA5 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. 5686 GO:1904813, GO:0070062, GO:0034774, GO:0019773, GO:0019773, GO:0019773, GO:0005839, GO:0005839, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular region, proteasome complex, GO:0005515, GO:0004175, protein binding, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 132 98 132 122 110 173 95 89 85 ENSG00000143107 chr1 108712657 108742740 + FNDC7 protein_coding 163479 GO:0005576, extracellular region, 0 2 1 0 2 0 0 3 4 ENSG00000143110 chr1 111473792 111478512 + C1orf162 protein_coding 128346 GO:0016021, integral component of membrane, 201 261 392 163 217 224 136 145 146 ENSG00000143119 chr1 110871188 110899928 + CD53 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 963 GO:0070821, GO:0070062, GO:0035579, GO:0009986, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0001772, tertiary granule membrane, extracellular exosome, specific granule membrane, cell surface, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, immunological synapse, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1901741, GO:0043312, GO:0007165, positive regulation of myoblast fusion, neutrophil degranulation, signal transduction, 13007 11545 16774 8148 10075 11308 9560 8220 9340 ENSG00000143125 chr1 110451200 110457354 + PROK1 protein_coding The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has little or no effect on a variety of other endothelial and non-endothelial cell types. Its expression is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta), is induced by hypoxia, and often complementary to the expression of vascular endothelial growth factor (VEGF), suggesting that these molecules function in a coordinated manner. [provided by RefSeq, Sep 2011]. 84432 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0008083, GO:0001664, growth factor activity, G protein-coupled receptor binding, GO:0051781, GO:0045765, GO:0008284, GO:0007623, GO:0007186, GO:0001525, GO:0000187, positive regulation of cell division, regulation of angiogenesis, positive regulation of cell population proliferation, circadian rhythm, G protein-coupled receptor signaling pathway, angiogenesis, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000143126 chr1 109250019 109275750 + CELSR2 protein_coding The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]. 1952 GO:0016021, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, cytoplasm, GO:0005509, GO:0004930, calcium ion binding, G protein-coupled receptor activity, GO:0098609, GO:0060271, GO:0060071, GO:0048813, GO:0033326, GO:0032880, GO:0022407, GO:0021999, GO:0021591, GO:0016055, GO:0007186, GO:0007156, GO:0006355, GO:0003341, GO:0001764, cell-cell adhesion, cilium assembly, Wnt signaling pathway, planar cell polarity pathway, dendrite morphogenesis, cerebrospinal fluid secretion, regulation of protein localization, regulation of cell-cell adhesion, neural plate anterior/posterior regionalization, ventricular system development, Wnt signaling pathway, G protein-coupled receptor signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, regulation of transcription, DNA-templated, cilium movement, neuron migration, 6 5 13 25 0 7 8 0 5 ENSG00000143127 chr1 145891208 145910189 - ITGA10 protein_coding Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 8515 GO:0034680, GO:0008305, GO:0005886, integrin alpha10-beta1 complex, integrin complex, plasma membrane, GO:0098639, GO:0046872, GO:0005518, collagen binding involved in cell-matrix adhesion, metal ion binding, collagen binding, GO:0030198, GO:0007229, GO:0007160, extracellular matrix organization, integrin-mediated signaling pathway, cell-matrix adhesion, 2 2 1 12 4 15 5 5 8 ENSG00000143147 chr1 168079543 168137667 - GPR161 protein_coding The protein encoded by this gene is an orphan G protein-coupled receptor whose ligand is unknown. This gene is overexpressed in triple-negative breast cancer, and disruption of this gene slows the proliferation of basal breast cancer cells. Therefore, this gene is a potential drug target for triple-negative breast cancer. [provided by RefSeq, Mar 2017]. 23432 GO:0060170, GO:0055037, GO:0055037, GO:0030666, GO:0016021, GO:0005929, ciliary membrane, recycling endosome, recycling endosome, endocytic vesicle membrane, integral component of membrane, cilium, GO:0005515, GO:0004930, GO:0004930, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:1901621, GO:0007275, GO:0007189, GO:0007186, negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, multicellular organism development, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 2 0 3 0 ENSG00000143149 chr1 165662216 165698863 - ALDH9A1 protein_coding This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]. 223 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0047105, GO:0047105, GO:0043878, GO:0033737, GO:0019145, GO:0019145, GO:0004029, GO:0004029, 4-trimethylammoniobutyraldehyde dehydrogenase activity, 4-trimethylammoniobutyraldehyde dehydrogenase activity, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity, 1-pyrroline dehydrogenase activity, aminobutyraldehyde dehydrogenase activity, aminobutyraldehyde dehydrogenase activity, aldehyde dehydrogenase (NAD+) activity, aldehyde dehydrogenase (NAD+) activity, GO:0055114, GO:0051289, GO:0045329, GO:0045329, GO:0042445, GO:0042136, GO:0006081, oxidation-reduction process, protein homotetramerization, carnitine biosynthetic process, carnitine biosynthetic process, hormone metabolic process, neurotransmitter biosynthetic process, cellular aldehyde metabolic process, 181 165 209 115 178 165 127 172 123 ENSG00000143153 chr1 169105697 169132722 + ATP1B1 protein_coding The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]. 481 GO:1903561, GO:0070062, GO:0042383, GO:0036126, GO:0031090, GO:0030315, GO:0016328, GO:0016324, GO:0016323, GO:0016020, GO:0014704, GO:0005901, GO:0005890, GO:0005890, GO:0005890, GO:0005890, GO:0005890, GO:0005886, GO:0005886, GO:0005886, extracellular vesicle, extracellular exosome, sarcolemma, sperm flagellum, organelle membrane, T-tubule, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, membrane, intercalated disc, caveola, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, plasma membrane, plasma membrane, plasma membrane, GO:0051117, GO:0046982, GO:0023026, GO:0019901, GO:0008022, GO:0005515, GO:0005391, GO:0001671, GO:0001671, GO:0001671, ATPase binding, protein heterodimerization activity, MHC class II protein complex binding, protein kinase binding, protein C-terminus binding, protein binding, sodium:potassium-exchanging ATPase activity, ATPase activator activity, ATPase activator activity, ATPase activator activity, GO:1990573, GO:1990573, GO:1903779, GO:1903408, GO:1903408, GO:1903408, GO:1903288, GO:1903288, GO:1903281, GO:1903278, GO:1903278, GO:1903278, GO:1901018, GO:0098655, GO:0086064, GO:0086013, GO:0086009, GO:0072659, GO:0060048, GO:0055119, GO:0050900, GO:0050821, GO:0050821, GO:0046034, GO:0044861, GO:0036376, GO:0036376, GO:0036376, GO:0035725, GO:0034220, GO:0032781, GO:0030007, GO:0030007, GO:0010882, GO:0010468, GO:0010248, GO:0007155, GO:0006883, GO:0006883, GO:0006874, GO:0001666, potassium ion import across plasma membrane, potassium ion import across plasma membrane, regulation of cardiac conduction, positive regulation of sodium:potassium-exchanging ATPase activity, positive regulation of sodium:potassium-exchanging ATPase activity, positive regulation of sodium:potassium-exchanging ATPase activity, positive regulation of potassium ion import across plasma membrane, positive regulation of potassium ion import across plasma membrane, positive regulation of calcium:sodium antiporter activity, positive regulation of sodium ion export across plasma membrane, positive regulation of sodium ion export across plasma membrane, positive regulation of sodium ion export across plasma membrane, positive regulation of potassium ion transmembrane transporter activity, cation transmembrane transport, cell communication by electrical coupling involved in cardiac conduction, membrane repolarization during cardiac muscle cell action potential, membrane repolarization, protein localization to plasma membrane, cardiac muscle contraction, relaxation of cardiac muscle, leukocyte migration, protein stabilization, protein stabilization, ATP metabolic process, protein transport into plasma membrane raft, sodium ion export across plasma membrane, sodium ion export across plasma membrane, sodium ion export across plasma membrane, sodium ion transmembrane transport, ion transmembrane transport, positive regulation of ATPase activity, cellular potassium ion homeostasis, cellular potassium ion homeostasis, regulation of cardiac muscle contraction by calcium ion signaling, regulation of gene expression, establishment or maintenance of transmembrane electrochemical gradient, cell adhesion, cellular sodium ion homeostasis, cellular sodium ion homeostasis, cellular calcium ion homeostasis, response to hypoxia, 6 2 7 23 7 9 15 1 6 ENSG00000143155 chr1 168178933 168202114 + TIPRL protein_coding TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]. 261726 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043666, GO:0032515, GO:0031929, GO:0000077, regulation of phosphoprotein phosphatase activity, negative regulation of phosphoprotein phosphatase activity, TOR signaling, DNA damage checkpoint, 195 185 249 151 197 262 154 227 203 ENSG00000143156 chr1 169132531 169367967 - NME7 protein_coding This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 29922 GO:0005829, GO:0005813, GO:0005813, cytosol, centrosome, centrosome, GO:0046872, GO:0005524, GO:0005515, GO:0004550, metal ion binding, ATP binding, protein binding, nucleoside diphosphate kinase activity, GO:0006241, GO:0006228, GO:0006183, GO:0006165, CTP biosynthetic process, UTP biosynthetic process, GTP biosynthetic process, nucleoside diphosphate phosphorylation, 14 18 23 9 13 16 4 17 12 ENSG00000143157 chr1 166839447 166856344 + POGK protein_coding The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008]. 57645 GO:0005634, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0007275, GO:0006355, multicellular organism development, regulation of transcription, DNA-templated, 99 110 187 146 74 151 135 95 128 ENSG00000143158 chr1 167916729 167937040 - MPC2 protein_coding 25874 GO:0031305, GO:0005739, GO:0005634, integral component of mitochondrial inner membrane, mitochondrion, nucleus, GO:0050833, GO:0042802, GO:0005515, pyruvate transmembrane transporter activity, identical protein binding, protein binding, GO:0061732, GO:0035774, GO:0006850, mitochondrial acetyl-CoA biosynthetic process from pyruvate, positive regulation of insulin secretion involved in cellular response to glucose stimulus, mitochondrial pyruvate transmembrane transport, 340 305 321 124 213 132 151 157 170 ENSG00000143162 chr1 167529117 167553805 - CREG1 protein_coding The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008]. 8804 GO:0070062, GO:0035578, GO:0005667, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, azurophil granule lumen, transcription regulator complex, extracellular space, extracellular space, extracellular region, GO:0008134, GO:0003714, transcription factor binding, transcription corepressor activity, GO:1903507, GO:0043312, GO:0040008, GO:0007275, GO:0006357, negative regulation of nucleic acid-templated transcription, neutrophil degranulation, regulation of growth, multicellular organism development, regulation of transcription by RNA polymerase II, 428 436 672 271 310 378 339 290 300 ENSG00000143164 chr1 167935783 168075843 + DCAF6 protein_coding The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding protein 2 (DDB2) may act as tumor promoters and tumor suppressors, respectively, by regulating the level of androgen receptor in prostate tissues. In addition, this protein can act with glucocorticoid receptor to promote human papillomavirus gene expression. [provided by RefSeq, Mar 2017]. 55827 GO:0080008, GO:0080008, GO:0005925, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, focal adhesion, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0030374, GO:0030374, GO:0005515, nuclear receptor coactivator activity, nuclear receptor coactivator activity, protein binding, GO:0045944, GO:0045944, GO:0043687, GO:0016567, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, post-translational protein modification, protein ubiquitination, 390 436 397 172 283 266 246 249 251 ENSG00000143167 chr1 167052836 167166479 - GPA33 protein_coding The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008]. 10223 GO:0070062, GO:0005887, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, 12 6 12 37 19 40 14 12 7 ENSG00000143171 chr1 165400917 165445355 - RXRG protein_coding This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]. 6258 GO:0090575, GO:0005737, GO:0005654, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, cytoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0044323, GO:0008270, GO:0005515, GO:0004879, GO:0003707, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, retinoic acid-responsive element binding, zinc ion binding, protein binding, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048856, GO:0048384, GO:0045944, GO:0043401, GO:0032526, GO:0030154, GO:0006367, GO:0006357, anatomical structure development, retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, steroid hormone mediated signaling pathway, response to retinoic acid, cell differentiation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000143178 chr1 168281040 168314426 + TBX19 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]. 9095 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045595, GO:0042127, GO:0021983, GO:0009653, GO:0006357, GO:0006357, GO:0003007, GO:0001756, GO:0001708, GO:0001707, regulation of cell differentiation, regulation of cell population proliferation, pituitary gland development, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, heart morphogenesis, somitogenesis, cell fate specification, mesoderm formation, 27 22 27 25 29 29 25 16 32 ENSG00000143179 chr1 165827531 165911618 + UCK2 protein_coding This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]. 7371 GO:0005829, GO:0005829, GO:0005575, cytosol, cytosol, cellular_component, GO:0042802, GO:0016301, GO:0005524, GO:0004849, identical protein binding, kinase activity, ATP binding, uridine kinase activity, GO:0044211, GO:0044206, GO:0043097, GO:0016310, CTP salvage, UMP salvage, pyrimidine nucleoside salvage, phosphorylation, 5 3 4 4 2 8 7 7 3 ENSG00000143183 chr1 165724293 165827755 - TMCO1 protein_coding This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]. 54499 GO:0030176, GO:0005783, GO:0005783, GO:0005737, GO:0000139, integral component of endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, Golgi membrane, GO:0005262, GO:0005262, calcium channel activity, calcium channel activity, GO:0070588, GO:0032469, GO:0032469, GO:0006983, GO:0006874, calcium ion transmembrane transport, endoplasmic reticulum calcium ion homeostasis, endoplasmic reticulum calcium ion homeostasis, ER overload response, cellular calcium ion homeostasis, 308 270 302 217 271 212 214 223 215 ENSG00000143184 chr1 168576473 168582077 + XCL1 protein_coding This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014]. 6375 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0048020, GO:0042803, GO:0042379, GO:0042379, GO:0008009, GO:0008009, GO:0005515, CCR chemokine receptor binding, protein homodimerization activity, chemokine receptor binding, chemokine receptor binding, chemokine activity, chemokine activity, protein binding, GO:2000566, GO:2000563, GO:2000562, GO:2000558, GO:2000556, GO:2000553, GO:2000538, GO:2000518, GO:2000513, GO:2000503, GO:2000412, GO:0090023, GO:0071663, GO:0071636, GO:0071560, GO:0071356, GO:0071353, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0051281, GO:0051209, GO:0050727, GO:0048247, GO:0045892, GO:0043547, GO:0043433, GO:0035782, GO:0032733, GO:0032703, GO:0032689, GO:0030593, GO:0030593, GO:0010820, GO:0010820, GO:0009615, GO:0007267, GO:0007186, GO:0007186, GO:0007165, GO:0006954, GO:0002826, GO:0002726, GO:0002725, GO:0002690, GO:0002548, GO:0001916, positive regulation of CD8-positive, alpha-beta T cell proliferation, positive regulation of CD4-positive, alpha-beta T cell proliferation, negative regulation of CD4-positive, alpha-beta T cell proliferation, positive regulation of immunoglobulin production in mucosal tissue, positive regulation of T-helper 1 cell cytokine production, positive regulation of T-helper 2 cell cytokine production, positive regulation of B cell chemotaxis, negative regulation of T-helper 1 cell activation, positive regulation of granzyme A production, positive regulation of natural killer cell chemotaxis, positive regulation of thymocyte migration, positive regulation of neutrophil chemotaxis, positive regulation of granzyme B production, positive regulation of transforming growth factor beta production, cellular response to transforming growth factor beta stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-4, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, positive regulation of release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, regulation of inflammatory response, lymphocyte chemotaxis, negative regulation of transcription, DNA-templated, positive regulation of GTPase activity, negative regulation of DNA-binding transcription factor activity, mature natural killer cell chemotaxis, positive regulation of interleukin-10 production, negative regulation of interleukin-2 production, negative regulation of interferon-gamma production, neutrophil chemotaxis, neutrophil chemotaxis, positive regulation of T cell chemotaxis, positive regulation of T cell chemotaxis, response to virus, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, negative regulation of T-helper 1 type immune response, positive regulation of T cell cytokine production, negative regulation of T cell cytokine production, positive regulation of leukocyte chemotaxis, monocyte chemotaxis, positive regulation of T cell mediated cytotoxicity, 0 0 2 1 6 0 3 2 0 ENSG00000143185 chr1 168540765 168543997 - XCL2 protein_coding 6846 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0008009, GO:0005515, CCR chemokine receptor binding, chemokine activity, protein binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0048247, GO:0043547, GO:0030593, GO:0010820, GO:0008015, GO:0007186, GO:0007186, GO:0007165, GO:0006954, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, positive regulation of T cell chemotaxis, blood circulation, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, monocyte chemotaxis, 0 1 9 14 1 46 9 2 59 ENSG00000143190 chr1 167220829 167427345 + POU2F1 protein_coding The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]. 5451 GO:0090575, GO:0043231, GO:0005783, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, intracellular membrane-bounded organelle, endoplasmic reticulum, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0043565, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000981, GO:0000979, GO:0000978, GO:0000978, sequence-specific DNA binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0045944, GO:0045892, GO:0042795, GO:0019221, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, snRNA transcription by RNA polymerase II, cytokine-mediated signaling pathway, regulation of transcription by RNA polymerase II, 690 755 975 385 674 700 603 419 583 ENSG00000143194 chr1 166975582 167022214 + MAEL protein_coding 84944 GO:0071547, GO:0048471, GO:0043186, GO:0043186, GO:0033391, GO:0030849, GO:0005737, GO:0005634, GO:0005634, GO:0001741, GO:0000785, piP-body, perinuclear region of cytoplasm, P granule, P granule, chromatoid body, autosome, cytoplasm, nucleus, nucleus, XY body, chromatin, GO:0043565, sequence-specific DNA binding, GO:0060964, GO:0046620, GO:0045892, GO:0043066, GO:0043046, GO:0034587, GO:0034587, GO:0031047, GO:0030154, GO:0009566, GO:0008630, GO:0007283, GO:0007283, GO:0007275, GO:0007140, GO:0007129, GO:0000902, GO:0000122, regulation of gene silencing by miRNA, regulation of organ growth, negative regulation of transcription, DNA-templated, negative regulation of apoptotic process, DNA methylation involved in gamete generation, piRNA metabolic process, piRNA metabolic process, gene silencing by RNA, cell differentiation, fertilization, intrinsic apoptotic signaling pathway in response to DNA damage, spermatogenesis, spermatogenesis, multicellular organism development, male meiotic nuclear division, homologous chromosome pairing at meiosis, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000143195 chr1 166895711 166975482 - ILDR2 protein_coding 387597 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0048873, GO:0031016, GO:0030154, GO:0030073, GO:0009749, homeostasis of number of cells within a tissue, pancreas development, cell differentiation, insulin secretion, response to glucose, 0 0 0 10 0 2 1 0 0 ENSG00000143196 chr1 168695459 168729264 - DPT protein_coding Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008]. 1805 GO:0062023, GO:0062023, GO:0062023, GO:0005615, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular space, GO:0005515, GO:0005201, GO:0005201, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0030199, GO:0008285, GO:0007155, collagen fibril organization, negative regulation of cell population proliferation, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000143198 chr1 165630861 165661796 + MGST3 protein_coding This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011]. 4259 GO:0043231, GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005783, GO:0005635, intracellular membrane-bounded organelle, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear envelope, GO:0042802, GO:0005515, GO:0004602, GO:0004602, GO:0004464, GO:0004364, identical protein binding, protein binding, glutathione peroxidase activity, glutathione peroxidase activity, leukotriene-C4 synthase activity, glutathione transferase activity, GO:1901687, GO:0098869, GO:0055114, GO:0019370, GO:0010243, GO:0006805, GO:0006629, glutathione derivative biosynthetic process, cellular oxidant detoxification, oxidation-reduction process, leukotriene biosynthetic process, response to organonitrogen compound, xenobiotic metabolic process, lipid metabolic process, 18 12 20 21 16 49 31 27 13 ENSG00000143199 chr1 167809388 167914215 - ADCY10 protein_coding The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]. 55811 GO:0048471, GO:0031514, GO:0016324, GO:0015630, GO:0005829, GO:0005739, GO:0005737, GO:0005634, GO:0005576, perinuclear region of cytoplasm, motile cilium, apical plasma membrane, microtubule cytoskeleton, cytosol, mitochondrion, cytoplasm, nucleus, extracellular region, GO:0071890, GO:0005524, GO:0004016, GO:0004016, GO:0004016, GO:0000287, bicarbonate binding, ATP binding, adenylate cyclase activity, adenylate cyclase activity, adenylate cyclase activity, magnesium ion binding, GO:0071241, GO:0035556, GO:0007283, GO:0006171, GO:0006171, GO:0003351, cellular response to inorganic substance, intracellular signal transduction, spermatogenesis, cAMP biosynthetic process, cAMP biosynthetic process, epithelial cilium movement involved in extracellular fluid movement, 9 6 3 8 9 13 14 16 8 ENSG00000143207 chr1 175944831 176207493 - COP1 protein_coding 64326 GO:0031464, GO:0016607, GO:0005829, GO:0005654, Cul4A-RING E3 ubiquitin ligase complex, nuclear speck, cytosol, nucleoplasm, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0043687, GO:0043161, GO:0032436, GO:0016567, GO:0010212, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, response to ionizing radiation, 2130 1908 2503 826 1479 1125 1055 1439 1027 ENSG00000143217 chr1 161070995 161089599 - NECTIN4 protein_coding This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]. 81607 GO:0070062, GO:0016021, GO:0005912, GO:0005912, GO:0005886, GO:0005886, extracellular exosome, integral component of membrane, adherens junction, adherens junction, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0001618, identical protein binding, protein binding, virus receptor activity, GO:0046718, GO:0034332, GO:0007157, GO:0007156, viral entry into host cell, adherens junction organization, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 0 1 0 5 7 16 1 4 2 ENSG00000143222 chr1 161152776 161158856 + UFC1 protein_coding UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]. 51506 GO:0070062, extracellular exosome, GO:0071568, GO:0061657, GO:0005515, UFM1 transferase activity, UFM1 conjugating enzyme activity, protein binding, GO:1990592, GO:1990592, GO:0071569, GO:0071569, GO:0061709, GO:0034976, GO:0034976, GO:0007420, protein K69-linked ufmylation, protein K69-linked ufmylation, protein ufmylation, protein ufmylation, reticulophagy, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, brain development, 106 79 104 133 93 172 127 80 115 ENSG00000143224 chr1 161166410 161178013 + PPOX protein_coding This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 5498 GO:0031966, GO:0031305, GO:0031304, GO:0031304, GO:0005758, mitochondrial membrane, integral component of mitochondrial inner membrane, intrinsic component of mitochondrial inner membrane, intrinsic component of mitochondrial inner membrane, mitochondrial intermembrane space, GO:0050660, GO:0016491, GO:0004729, GO:0004729, flavin adenine dinucleotide binding, oxidoreductase activity, oxygen-dependent protoporphyrinogen oxidase activity, oxygen-dependent protoporphyrinogen oxidase activity, GO:0055114, GO:0042493, GO:0006783, GO:0006783, GO:0006783, GO:0006782, GO:0006779, oxidation-reduction process, response to drug, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, protoporphyrinogen IX biosynthetic process, porphyrin-containing compound biosynthetic process, 54 44 65 90 64 86 71 58 78 ENSG00000143226 chr1 161505430 161524013 + FCGR2A protein_coding This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]. 2212 GO:0030667, GO:0005887, GO:0005886, GO:0005886, GO:0005794, secretory granule membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0019864, GO:0005515, GO:0004888, IgG binding, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0043312, GO:0038096, GO:0007166, regulation of immune response, neutrophil degranulation, Fc-gamma receptor signaling pathway involved in phagocytosis, cell surface receptor signaling pathway, 14299 11707 16178 4734 7997 7251 6706 7552 7387 ENSG00000143228 chr1 163266576 163355764 + NUF2 protein_coding This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]. 83540 GO:0031262, GO:0031262, GO:0016020, GO:0005829, GO:0005654, GO:0000778, GO:0000775, Ndc80 complex, Ndc80 complex, membrane, cytosol, nucleoplasm, condensed nuclear chromosome kinetochore, chromosome, centromeric region, GO:0044877, GO:0005515, GO:0003674, protein-containing complex binding, protein binding, molecular_function, GO:0051383, GO:0051315, GO:0051301, GO:0045132, GO:0007059, GO:0007052, kinetochore organization, attachment of mitotic spindle microtubules to kinetochore, cell division, meiotic chromosome segregation, chromosome segregation, mitotic spindle organization, 0 1 2 3 8 5 3 0 2 ENSG00000143248 chr1 163111121 163321791 - RGS5 protein_coding This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011]. 8490 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0005515, GO:0005096, GO:0003924, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0009968, GO:0008277, GO:0007186, positive regulation of GTPase activity, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 4 0 1 0 2 0 ENSG00000143252 chr1 161314257 161375340 + SDHC protein_coding This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]. 6391 GO:0045273, GO:0016021, GO:0005749, GO:0005749, GO:0005743, GO:0005743, GO:0005739, respiratory chain complex II, integral component of membrane, mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0046872, GO:0020037, GO:0009055, GO:0005515, GO:0000104, metal ion binding, heme binding, electron transfer activity, protein binding, succinate dehydrogenase activity, GO:0055114, GO:0009060, GO:0006121, GO:0006099, GO:0006099, oxidation-reduction process, aerobic respiration, mitochondrial electron transport, succinate to ubiquinone, tricarboxylic acid cycle, tricarboxylic acid cycle, 347 221 420 195 152 242 200 126 213 ENSG00000143256 chr1 161100556 161118111 - PFDN2 protein_coding This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]. 5202 GO:0016272, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005634, prefoldin complex, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleus, GO:0051082, GO:0044183, GO:0044183, GO:0005515, unfolded protein binding, protein folding chaperone, protein folding chaperone, protein binding, GO:0051495, GO:0006457, GO:0006457, positive regulation of cytoskeleton organization, protein folding, protein folding, 79 55 57 71 91 90 63 84 56 ENSG00000143257 chr1 161229666 161238302 - NR1I3 protein_coding This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. In addition to drug metabolism, the CAR protein is also reported to regulate genes involved in glucose metabolism, lipid metabolism, cell proliferation, and circadian clock regulation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]. 9970 GO:0005856, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, cytoskeleton, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0030522, GO:0030154, GO:0007165, GO:0006367, GO:0000122, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, intracellular receptor signaling pathway, cell differentiation, signal transduction, transcription initiation from RNA polymerase II promoter, negative regulation of transcription by RNA polymerase II, 48 54 66 69 100 176 65 61 132 ENSG00000143258 chr1 161159450 161165723 + USP21 protein_coding This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 27005 GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0046872, GO:0019784, GO:0008234, GO:0008234, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0003713, metal ion binding, NEDD8-specific protease activity, cysteine-type peptidase activity, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, transcription coactivator activity, GO:0045893, GO:0031175, GO:0016579, GO:0016578, GO:0006511, positive regulation of transcription, DNA-templated, neuron projection development, protein deubiquitination, histone deubiquitination, ubiquitin-dependent protein catabolic process, 99 100 117 124 103 78 90 99 76 ENSG00000143278 chr1 197038741 197067267 - F13B protein_coding This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]. 2165 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0007596, blood coagulation, 0 0 0 0 0 0 0 0 0 ENSG00000143294 chr1 156750610 156800817 + PRCC protein_coding This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]. 5546 GO:0016607, GO:0005654, GO:0005634, GO:0005634, nuclear speck, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0007093, GO:0007093, GO:0000398, mitotic cell cycle checkpoint, mitotic cell cycle checkpoint, mRNA splicing, via spliceosome, 389 442 485 257 346 329 268 279 222 ENSG00000143297 chr1 157513377 157552520 - FCRL5 protein_coding This gene encodes a member of the immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]. 83416 GO:0043235, GO:0009986, GO:0005887, receptor complex, cell surface, integral component of plasma membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0007166, cell surface receptor signaling pathway, 4 3 2 14 7 2 10 9 0 ENSG00000143303 chr1 156728442 156736960 + RRNAD1 protein_coding 51093 GO:0016021, integral component of membrane, GO:0000179, rRNA (adenine-N6,N6-)-dimethyltransferase activity, GO:0031167, rRNA methylation, 257 269 208 288 495 493 346 350 280 ENSG00000143314 chr1 156737303 156741590 - MRPL24 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]. 79590 GO:0005762, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 9 8 11 41 34 58 34 16 29 ENSG00000143315 chr1 160024953 160031991 - PIGM protein_coding This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]. 93183 GO:1990529, GO:0016021, GO:0005789, glycosylphosphatidylinositol-mannosyltransferase I complex, integral component of membrane, endoplasmic reticulum membrane, GO:0051751, GO:0004376, GO:0000030, alpha-1,4-mannosyltransferase activity, glycolipid mannosyltransferase activity, mannosyltransferase activity, GO:0097502, GO:0016254, GO:0006506, mannosylation, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, 43 28 34 49 29 48 25 16 40 ENSG00000143318 chr1 160190556 160201886 + CASQ1 protein_coding This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]. 844 GO:0033018, GO:0033018, GO:0033017, GO:0030315, GO:0030018, GO:0016529, GO:0014804, GO:0005794, GO:0005790, GO:0005783, GO:0005759, GO:0005739, sarcoplasmic reticulum lumen, sarcoplasmic reticulum lumen, sarcoplasmic reticulum membrane, T-tubule, Z disc, sarcoplasmic reticulum, terminal cisterna lumen, Golgi apparatus, smooth endoplasmic reticulum, endoplasmic reticulum, mitochondrial matrix, mitochondrion, GO:0042802, GO:0005515, GO:0005509, GO:0005509, identical protein binding, protein binding, calcium ion binding, calcium ion binding, GO:2001256, GO:1903779, GO:1901341, GO:0051281, GO:0051279, GO:0051258, GO:0045214, GO:0034220, GO:0014894, GO:0014809, GO:0014809, GO:0010033, GO:0009408, GO:0007519, GO:0007029, regulation of store-operated calcium entry, regulation of cardiac conduction, positive regulation of store-operated calcium channel activity, positive regulation of release of sequestered calcium ion into cytosol, regulation of release of sequestered calcium ion into cytosol, protein polymerization, sarcomere organization, ion transmembrane transport, response to denervation involved in regulation of muscle adaptation, regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, response to organic substance, response to heat, skeletal muscle tissue development, endoplasmic reticulum organization, 2 3 1 3 17 3 2 1 4 ENSG00000143319 chr1 156721891 156728799 - ISG20L2 protein_coding This gene encodes a 3'-5' exoribonuclease that may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [provided by RefSeq, Dec 2014]. 81875 GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleus, GO:0005515, GO:0004527, GO:0003723, GO:0000175, protein binding, exonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0006364, RNA phosphodiester bond hydrolysis, exonucleolytic, rRNA processing, 832 878 918 925 1106 969 1013 980 793 ENSG00000143320 chr1 156699606 156705816 - CRABP2 protein_coding This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]. 1382 GO:0070062, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, cytosol, cytosol, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0030332, GO:0019841, GO:0016918, GO:0005515, GO:0005501, GO:0001972, cyclin binding, retinol binding, retinal binding, protein binding, retinoid binding, retinoic acid binding, GO:0048672, GO:0048385, GO:0042573, GO:0035115, GO:0008544, GO:0007165, GO:0006355, positive regulation of collateral sprouting, regulation of retinoic acid receptor signaling pathway, retinoic acid metabolic process, embryonic forelimb morphogenesis, epidermis development, signal transduction, regulation of transcription, DNA-templated, 26 40 24 65 105 54 67 62 66 ENSG00000143321 chr1 156742107 156766925 - HDGF protein_coding This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016]. 3068 GO:0062023, GO:0017053, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005615, GO:0005576, collagen-containing extracellular matrix, transcription repressor complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, extracellular space, extracellular region, GO:0008201, GO:0008083, GO:0003723, GO:0003714, GO:0003712, GO:0003690, GO:0001222, GO:0000166, heparin binding, growth factor activity, RNA binding, transcription corepressor activity, transcription coregulator activity, double-stranded DNA binding, transcription corepressor binding, nucleotide binding, GO:0098761, GO:0036498, GO:0007165, GO:0006357, GO:0000122, cellular response to interleukin-7, IRE1-mediated unfolded protein response, signal transduction, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 768 754 1129 310 458 469 341 490 433 ENSG00000143322 chr1 179099327 179229684 - ABL2 protein_coding This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]. 27 GO:0015629, GO:0005829, actin cytoskeleton, cytosol, GO:0051015, GO:0030145, GO:0005524, GO:0005515, GO:0004715, GO:0004713, GO:0004713, GO:0004672, GO:0003785, GO:0001784, GO:0000287, actin filament binding, manganese ion binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, actin monomer binding, phosphotyrosine residue binding, magnesium ion binding, GO:2000249, GO:2000145, GO:0071300, GO:0051353, GO:0035640, GO:0035024, GO:0030155, GO:0030100, GO:0018108, GO:0010976, GO:0010863, GO:0010506, GO:0007204, GO:0007165, GO:0007155, GO:0006464, regulation of actin cytoskeleton reorganization, regulation of cell motility, cellular response to retinoic acid, positive regulation of oxidoreductase activity, exploration behavior, negative regulation of Rho protein signal transduction, regulation of cell adhesion, regulation of endocytosis, peptidyl-tyrosine phosphorylation, positive regulation of neuron projection development, positive regulation of phospholipase C activity, regulation of autophagy, positive regulation of cytosolic calcium ion concentration, signal transduction, cell adhesion, cellular protein modification process, 157 163 138 152 204 146 168 97 136 ENSG00000143324 chr1 180632004 180890251 + XPR1 protein_coding The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]. 9213 GO:0031226, GO:0016021, GO:0005886, GO:0005794, GO:0005737, intrinsic component of plasma membrane, integral component of membrane, plasma membrane, Golgi apparatus, cytoplasm, GO:0038023, GO:0015562, GO:0015114, GO:0015114, GO:0004930, GO:0004888, GO:0001618, GO:0000822, GO:0000822, signaling receptor activity, efflux transmembrane transporter activity, phosphate ion transmembrane transporter activity, phosphate ion transmembrane transporter activity, G protein-coupled receptor activity, transmembrane signaling receptor activity, virus receptor activity, inositol hexakisphosphate binding, inositol hexakisphosphate binding, GO:0046718, GO:0035435, GO:0030643, GO:0016036, GO:0007186, GO:0006817, viral entry into host cell, phosphate ion transmembrane transport, cellular phosphate ion homeostasis, cellular response to phosphate starvation, G protein-coupled receptor signaling pathway, phosphate ion transport, 352 288 386 207 246 290 287 157 197 ENSG00000143333 chr1 182598623 182604408 - RGS16 protein_coding The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq, Jul 2008]. 6004 GO:0031224, GO:0005886, GO:0005737, intrinsic component of membrane, plasma membrane, cytoplasm, GO:0005516, GO:0005515, GO:0005096, GO:0003924, calmodulin binding, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0009968, GO:0008277, GO:0007601, GO:0007186, GO:0007186, positive regulation of GTPase activity, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, visual perception, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 4 4 18 21 46 25 6 18 22 ENSG00000143337 chr1 179882042 179925000 + TOR1AIP1 protein_coding This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]. 26092 GO:0031965, GO:0016021, GO:0005637, GO:0005634, nuclear membrane, integral component of membrane, nuclear inner membrane, nucleus, GO:0051117, GO:0008092, GO:0005521, GO:0005515, GO:0001671, ATPase binding, cytoskeletal protein binding, lamin binding, protein binding, ATPase activator activity, GO:0090435, GO:0071763, GO:0034504, GO:0032781, protein localization to nuclear envelope, nuclear membrane organization, protein localization to nucleus, positive regulation of ATPase activity, 1362 1296 1704 681 1064 894 850 824 890 ENSG00000143340 chr1 179743163 179816198 + FAM163A protein_coding 148753 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000143341 chr1 185734551 186190949 + HMCN1 protein_coding This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]. 83872 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0032154, GO:0005938, GO:0005912, GO:0005604, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, cleavage furrow, cell cortex, adherens junction, basement membrane, GO:0005515, GO:0005509, GO:0005201, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0051301, GO:0009617, GO:0007601, GO:0007157, GO:0007156, GO:0007049, cell division, response to bacterium, visual perception, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell cycle, 1 4 1 0 0 2 0 7 1 ENSG00000143344 chr1 183636085 183928531 + RGL1 protein_coding 23179 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0019216, GO:0007264, regulation of lipid metabolic process, small GTPase mediated signal transduction, 19 20 46 9 19 23 21 12 17 ENSG00000143353 chr1 219173844 219212865 + LYPLAL1 protein_coding 127018 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0052689, GO:0008474, GO:0005515, GO:0004622, carboxylic ester hydrolase activity, palmitoyl-(protein) hydrolase activity, protein binding, lysophospholipase activity, GO:0008150, GO:0002084, biological_process, protein depalmitoylation, 62 68 68 47 81 56 46 94 50 ENSG00000143355 chr1 197911902 197935478 + LHX9 protein_coding This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 56956 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0097380, GO:0045892, GO:0035262, GO:0030182, GO:0008585, GO:0008584, GO:0008283, GO:0006357, dorsal spinal cord interneuron anterior axon guidance, negative regulation of transcription, DNA-templated, gonad morphogenesis, neuron differentiation, female gonad development, male gonad development, cell population proliferation, regulation of transcription by RNA polymerase II, 0 0 0 1 0 0 0 0 0 ENSG00000143363 chr1 151008420 151035713 + PRUNE1 protein_coding This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 58497 GO:0005925, GO:0005829, GO:0005737, GO:0005634, focal adhesion, cytosol, cytoplasm, nucleus, GO:0046872, GO:0016791, GO:0015631, GO:0005515, GO:0004427, GO:0004309, metal ion binding, phosphatase activity, tubulin binding, protein binding, inorganic diphosphatase activity, exopolyphosphatase activity, GO:0050767, GO:0031113, GO:0016311, GO:0006798, regulation of neurogenesis, regulation of microtubule polymerization, dephosphorylation, polyphosphate catabolic process, 311 332 324 105 213 176 133 169 158 ENSG00000143365 chr1 151806071 151831872 - RORC protein_coding The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6097 GO:0016604, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nuclear body, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0098531, GO:0008270, GO:0008142, GO:0008142, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0001227, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, ligand-activated transcription factor activity, zinc ion binding, oxysterol binding, oxysterol binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072539, GO:0060612, GO:0045893, GO:0045598, GO:0042753, GO:0036315, GO:0032922, GO:0030522, GO:0019221, GO:0019218, GO:0010906, GO:0006805, GO:0006367, GO:0006357, GO:0000122, T-helper 17 cell differentiation, adipose tissue development, positive regulation of transcription, DNA-templated, regulation of fat cell differentiation, positive regulation of circadian rhythm, cellular response to sterol, circadian regulation of gene expression, intracellular receptor signaling pathway, cytokine-mediated signaling pathway, regulation of steroid metabolic process, regulation of glucose metabolic process, xenobiotic metabolic process, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 8 5 13 27 8 38 33 4 19 ENSG00000143367 chr1 151540305 151583583 + TUFT1 protein_coding Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]. 7286 GO:0005737, GO:0005737, GO:0005622, GO:0005576, cytoplasm, cytoplasm, intracellular anatomical structure, extracellular region, GO:0030345, GO:0005515, structural constituent of tooth enamel, protein binding, GO:0042476, GO:0035556, GO:0030282, odontogenesis, intracellular signal transduction, bone mineralization, 84 117 180 115 146 121 105 90 105 ENSG00000143368 chr1 149923317 149928344 - SF3B4 protein_coding This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008]. 10262 GO:0071005, GO:0005730, GO:0005689, GO:0005689, GO:0005681, GO:0005654, GO:0005634, U2-type precatalytic spliceosome, nucleolus, U12-type spliceosomal complex, U12-type spliceosomal complex, spliceosomal complex, nucleoplasm, nucleus, GO:1990935, GO:0005515, GO:0003723, splicing factor binding, protein binding, RNA binding, GO:0048026, GO:0008380, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000375, positive regulation of mRNA splicing, via spliceosome, RNA splicing, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 644 629 724 230 447 318 329 377 258 ENSG00000143369 chr1 150508062 150513789 + ECM1 protein_coding This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]. 1893 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0031089, GO:0031012, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet dense granule lumen, extracellular matrix, extracellular space, extracellular region, GO:0043236, GO:0019899, GO:0008022, GO:0005515, GO:0005201, GO:0005134, GO:0002020, laminin binding, enzyme binding, protein C-terminus binding, protein binding, extracellular matrix structural constituent, interleukin-2 receptor binding, protease binding, GO:2000404, GO:0045766, GO:0043123, GO:0031214, GO:0030502, GO:0030500, GO:0010466, GO:0007165, GO:0006954, GO:0006357, GO:0003416, GO:0002828, GO:0002576, GO:0002063, GO:0001960, GO:0001938, GO:0001525, GO:0001503, regulation of T cell migration, positive regulation of angiogenesis, positive regulation of I-kappaB kinase/NF-kappaB signaling, biomineral tissue development, negative regulation of bone mineralization, regulation of bone mineralization, negative regulation of peptidase activity, signal transduction, inflammatory response, regulation of transcription by RNA polymerase II, endochondral bone growth, regulation of type 2 immune response, platelet degranulation, chondrocyte development, negative regulation of cytokine-mediated signaling pathway, positive regulation of endothelial cell proliferation, angiogenesis, ossification, 0 0 2 8 4 2 9 1 0 ENSG00000143373 chr1 151281618 151292180 + ZNF687 protein_coding This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 57592 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 2669 2351 2600 573 853 837 644 660 692 ENSG00000143374 chr1 150487364 150507609 + TARS2 protein_coding This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]. 80222 GO:0005759, GO:0005575, mitochondrial matrix, cellular_component, GO:0042803, GO:0005524, GO:0005515, GO:0004829, GO:0004829, GO:0002161, protein homodimerization activity, ATP binding, protein binding, threonine-tRNA ligase activity, threonine-tRNA ligase activity, aminoacyl-tRNA editing activity, GO:0106074, GO:0070159, GO:0006435, aminoacyl-tRNA metabolism involved in translational fidelity, mitochondrial threonyl-tRNA aminoacylation, threonyl-tRNA aminoacylation, 29 33 33 50 24 44 40 30 24 ENSG00000143375 chr1 151510510 151538692 + CGN protein_coding 57530 GO:0030054, GO:0030054, GO:0016459, GO:0005923, GO:0005923, GO:0005886, cell junction, cell junction, myosin complex, bicellular tight junction, bicellular tight junction, plasma membrane, GO:0045296, GO:0005515, GO:0003779, GO:0003774, cadherin binding, protein binding, actin binding, motor activity, GO:0008150, GO:0007179, biological_process, transforming growth factor beta receptor signaling pathway, 1 2 1 1 0 0 1 0 0 ENSG00000143376 chr1 151612006 151699091 + SNX27 protein_coding This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]. 81609 GO:0071203, GO:0031901, GO:0030904, GO:0005829, GO:0005769, GO:0005769, GO:0005768, GO:0005654, GO:0001772, WASH complex, early endosome membrane, retromer complex, cytosol, early endosome, early endosome, endosome, nucleoplasm, immunological synapse, GO:0035091, GO:0032266, GO:0005515, phosphatidylinositol binding, phosphatidylinositol-3-phosphate binding, protein binding, GO:1990126, GO:1990126, GO:0016197, GO:0008333, GO:0007165, GO:0006886, GO:0006886, GO:0001770, retrograde transport, endosome to plasma membrane, retrograde transport, endosome to plasma membrane, endosomal transport, endosome to lysosome transport, signal transduction, intracellular protein transport, intracellular protein transport, establishment of natural killer cell polarity, 1145 1573 1750 721 1738 1438 1067 1305 1284 ENSG00000143379 chr1 150926263 150964744 + SETDB1 protein_coding This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]. 9869 GO:0043231, GO:0005737, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, cytoplasm, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990841, GO:0046974, GO:0046974, GO:0018024, GO:0008270, GO:0005515, GO:0003682, GO:0003677, promoter-specific chromatin binding, histone methyltransferase activity (H3-K9 specific), histone methyltransferase activity (H3-K9 specific), histone-lysine N-methyltransferase activity, zinc ion binding, protein binding, chromatin binding, DNA binding, GO:0090309, GO:0090309, GO:0090309, GO:0070828, GO:0051567, GO:0045869, GO:0010629, GO:0007265, positive regulation of DNA methylation-dependent heterochromatin assembly, positive regulation of DNA methylation-dependent heterochromatin assembly, positive regulation of DNA methylation-dependent heterochromatin assembly, heterochromatin organization, histone H3-K9 methylation, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of gene expression, Ras protein signal transduction, 470 530 525 365 598 535 454 449 436 ENSG00000143382 chr1 150549369 150560937 + ADAMTSL4 protein_coding This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]. 54507 GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005614, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, interstitial matrix, GO:0005515, GO:0004222, GO:0002020, protein binding, metalloendopeptidase activity, protease binding, GO:0043065, GO:0030198, GO:0006915, GO:0006508, GO:0002064, positive regulation of apoptotic process, extracellular matrix organization, apoptotic process, proteolysis, epithelial cell development, 2288 2860 2489 2581 4766 3602 3169 3402 3015 ENSG00000143384 chr1 150574551 150579738 - MCL1 protein_coding This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]. 4170 GO:0097136, GO:0016021, GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005741, GO:0005741, GO:0005739, GO:0005737, GO:0005654, GO:0005634, Bcl-2 family protein complex, integral component of membrane, membrane, membrane, cytosol, cytosol, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0051434, GO:0046982, GO:0046982, GO:0042803, GO:0008320, GO:0005515, BH3 domain binding, protein heterodimerization activity, protein heterodimerization activity, protein homodimerization activity, protein transmembrane transporter activity, protein binding, GO:2001243, GO:2001240, GO:2001020, GO:2000811, GO:1903378, GO:0097192, GO:0097192, GO:0071806, GO:0043066, GO:0034097, GO:0019725, GO:0019221, GO:0010507, GO:0008630, GO:0007275, GO:0001709, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, regulation of response to DNA damage stimulus, negative regulation of anoikis, positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway in absence of ligand, protein transmembrane transport, negative regulation of apoptotic process, response to cytokine, cellular homeostasis, cytokine-mediated signaling pathway, negative regulation of autophagy, intrinsic apoptotic signaling pathway in response to DNA damage, multicellular organism development, cell fate determination, 32407 41261 53863 23671 50465 57318 33549 45136 53996 ENSG00000143387 chr1 150796208 150808323 - CTSK protein_coding The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]. 1513 GO:0043231, GO:0043202, GO:0036021, GO:0016324, GO:0009897, GO:0005764, GO:0005764, GO:0005654, GO:0005615, GO:0005615, GO:0005576, intracellular membrane-bounded organelle, lysosomal lumen, endolysosome lumen, apical plasma membrane, external side of plasma membrane, lysosome, lysosome, nucleoplasm, extracellular space, extracellular space, extracellular region, GO:0043394, GO:0008234, GO:0005518, GO:0005515, GO:0004197, GO:0004197, GO:0001968, proteoglycan binding, cysteine-type peptidase activity, collagen binding, protein binding, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, fibronectin binding, GO:0061037, GO:0051603, GO:0051603, GO:0045616, GO:0045453, GO:0030574, GO:0030574, GO:0022617, GO:0006955, GO:0006590, GO:0006508, GO:0002224, GO:0001957, GO:0000422, negative regulation of cartilage development, proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, regulation of keratinocyte differentiation, bone resorption, collagen catabolic process, collagen catabolic process, extracellular matrix disassembly, immune response, thyroid hormone generation, proteolysis, toll-like receptor signaling pathway, intramembranous ossification, autophagy of mitochondrion, 40 44 41 54 82 55 64 50 39 ENSG00000143390 chr1 151340640 151347357 - RFX5 protein_coding A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]. 5993 GO:0090575, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 393 398 734 320 217 600 315 198 625 ENSG00000143393 chr1 151291797 151327715 - PI4KB protein_coding 5298 GO:0048471, GO:0030867, GO:0016020, GO:0005829, GO:0005768, GO:0005741, GO:0005737, GO:0000139, GO:0000139, perinuclear region of cytoplasm, rough endoplasmic reticulum membrane, membrane, cytosol, endosome, mitochondrial outer membrane, cytoplasm, Golgi membrane, Golgi membrane, GO:0071889, GO:0052742, GO:0005524, GO:0005515, GO:0004430, GO:0004430, GO:0004430, 14-3-3 protein binding, phosphatidylinositol kinase activity, ATP binding, protein binding, 1-phosphatidylinositol 4-kinase activity, 1-phosphatidylinositol 4-kinase activity, 1-phosphatidylinositol 4-kinase activity, GO:0048015, GO:0046854, GO:0016032, GO:0007165, GO:0006898, GO:0006661, phosphatidylinositol-mediated signaling, phosphatidylinositol phosphorylation, viral process, signal transduction, receptor-mediated endocytosis, phosphatidylinositol biosynthetic process, 885 1109 1520 593 862 808 577 713 678 ENSG00000143398 chr1 151197949 151249536 + PIP5K1A protein_coding 8394 GO:0032587, GO:0030027, GO:0016607, GO:0016607, GO:0005925, GO:0005886, GO:0005847, GO:0005829, GO:0005829, GO:0005654, GO:0005634, ruffle membrane, lamellipodium, nuclear speck, nuclear speck, focal adhesion, plasma membrane, mRNA cleavage and polyadenylation specificity factor complex, cytosol, cytosol, nucleoplasm, nucleus, GO:0019900, GO:0016308, GO:0016308, GO:0005524, GO:0005515, kinase binding, 1-phosphatidylinositol-4-phosphate 5-kinase activity, 1-phosphatidylinositol-4-phosphate 5-kinase activity, ATP binding, protein binding, GO:0097178, GO:0090630, GO:0072659, GO:0060326, GO:0048041, GO:0046854, GO:0031532, GO:0030216, GO:0016477, GO:0014066, GO:0010761, GO:0008654, GO:0007165, GO:0006909, GO:0006661, GO:0006650, ruffle assembly, activation of GTPase activity, protein localization to plasma membrane, cell chemotaxis, focal adhesion assembly, phosphatidylinositol phosphorylation, actin cytoskeleton reorganization, keratinocyte differentiation, cell migration, regulation of phosphatidylinositol 3-kinase signaling, fibroblast migration, phospholipid biosynthetic process, signal transduction, phagocytosis, phosphatidylinositol biosynthetic process, glycerophospholipid metabolic process, 497 385 739 388 374 445 335 320 321 ENSG00000143401 chr1 150218417 150236156 - ANP32E protein_coding 81611 GO:0031410, GO:0005634, GO:0005634, GO:0005634, GO:0000812, cytoplasmic vesicle, nucleus, nucleus, nucleus, Swr1 complex, GO:0042393, GO:0042393, GO:0019212, GO:0019212, GO:0005515, histone binding, histone binding, phosphatase inhibitor activity, phosphatase inhibitor activity, protein binding, GO:0043486, GO:0043486, GO:0043086, GO:0042981, histone exchange, histone exchange, negative regulation of catalytic activity, regulation of apoptotic process, 186 176 315 200 183 235 200 147 248 ENSG00000143409 chr1 150996086 151008375 - MINDY1 protein_coding 55793 GO:0071944, GO:0016604, GO:0005829, GO:0005654, cell periphery, nuclear body, cytosol, nucleoplasm, GO:1990380, GO:1990380, GO:0036435, GO:0016807, GO:0016807, GO:0005515, GO:0004843, Lys48-specific deubiquitinase activity, Lys48-specific deubiquitinase activity, K48-linked polyubiquitin modification-dependent protein binding, cysteine-type carboxypeptidase activity, cysteine-type carboxypeptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0071108, GO:0008150, protein K48-linked deubiquitination, biological_process, 1385 1953 1913 539 1603 1050 774 1241 1113 ENSG00000143412 chr1 150982017 150995634 + ANXA9 protein_coding The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]. 8416 GO:0045202, GO:0031982, GO:0009986, GO:0005886, GO:0005829, GO:0005737, GO:0005634, GO:0005615, synapse, vesicle, cell surface, plasma membrane, cytosol, cytoplasm, nucleus, extracellular space, GO:0046790, GO:0031267, GO:0019834, GO:0015464, GO:0005546, GO:0005544, GO:0005543, GO:0005515, GO:0005509, GO:0005262, GO:0002020, GO:0001786, GO:0001786, virion binding, small GTPase binding, phospholipase A2 inhibitor activity, acetylcholine receptor activity, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, phospholipid binding, protein binding, calcium ion binding, calcium channel activity, protease binding, phosphatidylserine binding, phosphatidylserine binding, GO:0098609, GO:0070588, GO:0043086, GO:0007271, cell-cell adhesion, calcium ion transmembrane transport, negative regulation of catalytic activity, synaptic transmission, cholinergic, 312 437 437 240 502 433 290 378 375 ENSG00000143416 chr1 151364302 151372733 - SELENBP1 protein_coding This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]. 8991 GO:0070062, GO:0016020, GO:0005829, GO:0005730, GO:0005615, GO:0001650, extracellular exosome, membrane, cytosol, nucleolus, extracellular space, fibrillar center, GO:0018549, GO:0008430, GO:0005515, methanethiol oxidase activity, selenium binding, protein binding, GO:0055114, GO:0015031, oxidation-reduction process, protein transport, 1 0 0 2 0 0 4 0 3 ENSG00000143418 chr1 150960583 150975004 - CERS2 protein_coding This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]. 29956 GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0050291, GO:0050291, GO:0016410, GO:0005515, GO:0003677, sphingosine N-acyltransferase activity, sphingosine N-acyltransferase activity, N-acyltransferase activity, protein binding, DNA binding, GO:1905045, GO:1900148, GO:0048681, GO:0046513, GO:0046513, GO:0030148, negative regulation of Schwann cell proliferation involved in axon regeneration, negative regulation of Schwann cell migration, negative regulation of axon regeneration, ceramide biosynthetic process, ceramide biosynthetic process, sphingolipid biosynthetic process, 1523 1652 1817 737 1350 1038 924 1227 853 ENSG00000143420 chr1 150600851 150629612 - ENSA protein_coding The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 2029 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0051721, GO:0019888, GO:0019870, GO:0019212, GO:0008200, GO:0005515, GO:0005102, GO:0004864, protein phosphatase 2A binding, protein phosphatase regulator activity, potassium channel inhibitor activity, phosphatase inhibitor activity, ion channel inhibitor activity, protein binding, signaling receptor binding, protein phosphatase inhibitor activity, GO:0051301, GO:0050796, GO:0035308, GO:0032515, GO:0009749, GO:0007584, GO:0000278, GO:0000086, cell division, regulation of insulin secretion, negative regulation of protein dephosphorylation, negative regulation of phosphoprotein phosphatase activity, response to glucose, response to nutrient, mitotic cell cycle, G2/M transition of mitotic cell cycle, 1512 1428 1945 888 1252 1450 995 1035 988 ENSG00000143429 chr2 91617160 91659972 - LSP1P4 transcribed_unprocessed_pseudogene 645166 1 0 0 1 0 0 0 0 0 ENSG00000143434 chr1 151131685 151146664 - SEMA6C protein_coding This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010]. 10500 GO:0005887, GO:0005615, integral component of plasma membrane, extracellular space, GO:0045499, GO:0030215, chemorepellent activity, semaphorin receptor binding, GO:0071526, GO:0050919, GO:0048843, GO:0030335, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, axon guidance, neural crest cell migration, 12 14 14 26 25 23 10 19 6 ENSG00000143436 chr1 151759643 151763564 - MRPL9 protein_coding This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]. 65005 GO:0005762, GO:0005761, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 24 7 36 40 21 79 42 25 36 ENSG00000143437 chr1 150809705 150876768 - ARNT protein_coding This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]. 405 GO:0090575, GO:0034751, GO:0016604, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, aryl hydrocarbon receptor complex, nuclear body, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046982, GO:0046982, GO:0043565, GO:0042803, GO:0017162, GO:0008134, GO:0005515, GO:0004879, GO:0003700, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein heterodimerization activity, protein heterodimerization activity, sequence-specific DNA binding, protein homodimerization activity, aryl hydrocarbon receptor binding, transcription factor binding, protein binding, nuclear receptor activity, DNA-binding transcription factor activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0061418, GO:0046886, GO:0045944, GO:0045821, GO:0045648, GO:0043619, GO:0033235, GO:0030949, GO:0030522, GO:0030154, GO:0010575, GO:0006805, GO:0006357, GO:0001938, GO:0001892, GO:0001666, regulation of transcription from RNA polymerase II promoter in response to hypoxia, positive regulation of hormone biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of glycolytic process, positive regulation of erythrocyte differentiation, regulation of transcription from RNA polymerase II promoter in response to oxidative stress, positive regulation of protein sumoylation, positive regulation of vascular endothelial growth factor receptor signaling pathway, intracellular receptor signaling pathway, cell differentiation, positive regulation of vascular endothelial growth factor production, xenobiotic metabolic process, regulation of transcription by RNA polymerase II, positive regulation of endothelial cell proliferation, embryonic placenta development, response to hypoxia, 476 499 601 277 442 372 334 305 346 ENSG00000143442 chr1 151402724 151459465 - POGZ protein_coding The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]. 23126 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000785, cytosol, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0051382, GO:0051301, GO:0045944, GO:0010468, GO:0007064, kinetochore assembly, cell division, positive regulation of transcription by RNA polymerase II, regulation of gene expression, mitotic sister chromatid cohesion, 1774 1829 2635 1348 1377 1672 1267 885 1255 ENSG00000143443 chr1 151047740 151051986 + C1orf56 protein_coding This gene is a proto-oncogene whose promoter is methylated by DNA methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpressed in lymphomas, leading to hypomethylation of the proto-oncogene's promoter and derepression of the proto-oncogene. [provided by RefSeq, Sep 2016]. 54964 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0042127, GO:0042127, regulation of cell population proliferation, regulation of cell population proliferation, 1779 1691 2213 724 1338 1293 903 1190 1216 ENSG00000143450 chr1 151762899 151771334 + OAZ3 protein_coding The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake; however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been found for this gene. [provided by RefSeq, Dec 2014]. 51686 GO:0072562, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, blood microparticle, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0008073, GO:0008073, GO:0008073, GO:0005515, ornithine decarboxylase inhibitor activity, ornithine decarboxylase inhibitor activity, ornithine decarboxylase inhibitor activity, protein binding, GO:1902268, GO:0045732, GO:0045732, GO:0043086, GO:0007283, GO:0006596, GO:0006521, negative regulation of polyamine transmembrane transport, positive regulation of protein catabolic process, positive regulation of protein catabolic process, negative regulation of catalytic activity, spermatogenesis, polyamine biosynthetic process, regulation of cellular amino acid metabolic process, 9 3 13 26 5 35 22 8 4 ENSG00000143452 chr1 150698060 150720888 - HORMAD1 protein_coding This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 84072 GO:0005694, GO:0005634, GO:0005634, GO:0000795, chromosome, nucleus, nucleus, synaptonemal complex, GO:0005515, protein binding, GO:0060629, GO:0051598, GO:0051598, GO:0051321, GO:0051177, GO:0048477, GO:0042138, GO:0007283, GO:0007130, GO:0007130, GO:0001824, regulation of homologous chromosome segregation, meiotic recombination checkpoint, meiotic recombination checkpoint, meiotic cell cycle, meiotic sister chromatid cohesion, oogenesis, meiotic DNA double-strand break formation, spermatogenesis, synaptonemal complex assembly, synaptonemal complex assembly, blastocyst development, 65 54 48 67 86 61 93 70 57 ENSG00000143457 chr1 150646225 150697144 - GOLPH3L protein_coding The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]. 55204 GO:0032588, GO:0032580, GO:0031985, GO:0005829, GO:0005802, GO:0005794, GO:0000139, trans-Golgi network membrane, Golgi cisterna membrane, Golgi cisterna, cytosol, trans-Golgi network, Golgi apparatus, Golgi membrane, GO:0070273, GO:0070273, GO:0005515, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-4-phosphate binding, protein binding, GO:0050714, GO:0048194, GO:0043001, GO:0007030, GO:0007030, GO:0006890, positive regulation of protein secretion, Golgi vesicle budding, Golgi to plasma membrane protein transport, Golgi organization, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 92 103 73 124 186 170 177 113 87 ENSG00000143458 chr1 151070578 151125542 + GABPB2 protein_coding 126626 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, GO:0000976, GO:0000976, protein binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, 86 105 155 122 96 178 124 81 130 ENSG00000143469 chr1 209938174 210171389 + SYT14 protein_coding This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]. 255928 GO:0016021, integral component of membrane, 0 0 0 0 1 0 0 0 0 ENSG00000143473 chr1 210676823 211134180 - KCNH1 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 3756 GO:0098839, GO:0043231, GO:0043204, GO:0042734, GO:0031901, GO:0030425, GO:0030424, GO:0008076, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005637, postsynaptic density membrane, intracellular membrane-bounded organelle, perikaryon, presynaptic membrane, early endosome membrane, dendrite, axon, voltage-gated potassium channel complex, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, nuclear inner membrane, GO:1902936, GO:0030551, GO:0005516, GO:0005515, GO:0005251, GO:0005249, phosphatidylinositol bisphosphate binding, cyclic nucleotide binding, calmodulin binding, protein binding, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0071277, GO:0048015, GO:0042391, GO:0042127, GO:0034765, GO:0007520, GO:0006813, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to calcium ion, phosphatidylinositol-mediated signaling, regulation of membrane potential, regulation of cell population proliferation, regulation of ion transmembrane transport, myoblast fusion, potassium ion transport, 2 0 0 0 0 0 0 0 6 ENSG00000143476 chr1 212035553 212107400 + DTL protein_coding 51514 GO:0080008, GO:0031965, GO:0031465, GO:0031464, GO:0005829, GO:0005813, GO:0005730, GO:0005694, GO:0005654, GO:0005654, GO:0005634, Cul4-RING E3 ubiquitin ligase complex, nuclear membrane, Cul4B-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, cytosol, centrosome, nucleolus, chromosome, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0072425, GO:0051726, GO:0048511, GO:0045732, GO:0043687, GO:0042769, GO:0019985, GO:0010971, GO:0009411, GO:0006974, GO:0006974, GO:0006513, GO:0006511, GO:0006511, GO:0006511, GO:0006260, GO:0000209, GO:0000209, signal transduction involved in G2 DNA damage checkpoint, regulation of cell cycle, rhythmic process, positive regulation of protein catabolic process, post-translational protein modification, DNA damage response, detection of DNA damage, translesion synthesis, positive regulation of G2/M transition of mitotic cell cycle, response to UV, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, protein monoubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, DNA replication, protein polyubiquitination, protein polyubiquitination, 0 0 3 3 2 6 3 3 5 ENSG00000143479 chr1 206635536 206684419 + DYRK3 protein_coding This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 8444 GO:0043231, GO:0016607, GO:0010494, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000242, intracellular membrane-bounded organelle, nuclear speck, cytoplasmic stress granule, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, pericentriolar material, GO:0005524, GO:0004713, GO:0004712, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0000287, ATP binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:1903432, GO:1903008, GO:1902751, GO:1902751, GO:0080135, GO:0051301, GO:0043518, GO:0043066, GO:0035617, GO:0035617, GO:0035617, GO:0035063, GO:0030218, GO:0018108, GO:0018107, GO:0018105, GO:0007049, GO:0006468, regulation of TORC1 signaling, organelle disassembly, positive regulation of cell cycle G2/M phase transition, positive regulation of cell cycle G2/M phase transition, regulation of cellular response to stress, cell division, negative regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of apoptotic process, stress granule disassembly, stress granule disassembly, stress granule disassembly, nuclear speck organization, erythrocyte differentiation, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, cell cycle, protein phosphorylation, 1 3 10 35 24 34 13 10 32 ENSG00000143486 chr1 206571292 206612463 - EIF2D protein_coding This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 1939 GO:0022627, GO:0022627, GO:0016604, GO:0005829, GO:0005737, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, nuclear body, cytosol, cytoplasm, GO:0038023, GO:0003743, GO:0003743, signaling receptor activity, translation initiation factor activity, translation initiation factor activity, GO:0075522, GO:0032790, GO:0006886, GO:0001731, GO:0001731, IRES-dependent viral translational initiation, ribosome disassembly, intracellular protein transport, formation of translation preinitiation complex, formation of translation preinitiation complex, 284 232 266 193 250 324 269 188 186 ENSG00000143493 chr1 211940399 212035542 - INTS7 protein_coding This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 25896 GO:0032039, GO:0032039, GO:0016604, GO:0005737, GO:0005694, GO:0005654, GO:0005634, integrator complex, integrator complex, nuclear body, cytoplasm, chromosome, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0071479, GO:0042795, GO:0034472, GO:0016180, GO:0000077, cellular response to ionizing radiation, snRNA transcription by RNA polymerase II, snRNA 3'-end processing, snRNA processing, DNA damage checkpoint, 10 13 27 35 10 37 11 10 27 ENSG00000143494 chr1 212950520 212992037 + VASH2 protein_coding 79805 GO:0005856, GO:0005737, GO:0005737, GO:0005576, cytoskeleton, cytoplasm, cytoplasm, extracellular region, GO:0008017, GO:0005515, GO:0004181, GO:0004181, GO:0003779, microtubule binding, protein binding, metallocarboxypeptidase activity, metallocarboxypeptidase activity, actin binding, GO:0140253, GO:0140253, GO:0061564, GO:0060716, GO:0045766, GO:0045765, GO:0006508, GO:0001938, GO:0000768, cell-cell fusion, cell-cell fusion, axon development, labyrinthine layer blood vessel development, positive regulation of angiogenesis, regulation of angiogenesis, proteolysis, positive regulation of endothelial cell proliferation, syncytium formation by plasma membrane fusion, 3 2 1 3 0 0 6 0 0 ENSG00000143498 chr1 222557902 222589933 - TAF1A protein_coding This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]. 9015 GO:0015630, GO:0005654, GO:0005654, GO:0000120, microtubule cytoskeleton, nucleoplasm, nucleoplasm, RNA polymerase I transcription regulator complex, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0045815, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006360, positive regulation of gene expression, epigenetic, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription by RNA polymerase I, 16 6 12 26 9 6 22 9 13 ENSG00000143499 chr1 214281102 214337131 + SMYD2 protein_coding SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]. 56950 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046975, GO:0046872, GO:0018024, GO:0016279, GO:0016278, GO:0005515, GO:0002039, GO:0000993, histone methyltransferase activity (H3-K36 specific), metal ion binding, histone-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, lysine N-methyltransferase activity, protein binding, p53 binding, RNA polymerase II complex binding, GO:1901796, GO:0043516, GO:0034968, GO:0018027, GO:0018026, GO:0010452, GO:0008285, GO:0007507, GO:0000122, regulation of signal transduction by p53 class mediator, regulation of DNA damage response, signal transduction by p53 class mediator, histone lysine methylation, peptidyl-lysine dimethylation, peptidyl-lysine monomethylation, histone H3-K36 methylation, negative regulation of cell population proliferation, heart development, negative regulation of transcription by RNA polymerase II, 20 24 49 87 23 71 81 22 52 ENSG00000143502 chr1 223220819 223364202 - SUSD4 protein_coding 55061 GO:0016021, GO:0005576, integral component of membrane, extracellular region, GO:0045959, GO:0045957, GO:0045087, GO:0030449, GO:0006958, negative regulation of complement activation, classical pathway, negative regulation of complement activation, alternative pathway, innate immune response, regulation of complement activation, complement activation, classical pathway, 3 1 14 12 2 9 1 3 4 ENSG00000143507 chr1 221701424 221742176 - DUSP10 protein_coding Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAP kinase superfamily, which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAP kinases, different tissue distribution and subcellular localization, and different modes of expression induction by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 11221 GO:0016607, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005654, GO:0005634, nuclear speck, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0051019, GO:0048273, GO:0033549, GO:0033549, GO:0017017, GO:0016791, GO:0008432, GO:0008330, GO:0008330, GO:0005515, GO:0004725, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, mitogen-activated protein kinase p38 binding, MAP kinase phosphatase activity, MAP kinase phosphatase activity, MAP kinase tyrosine/serine/threonine phosphatase activity, phosphatase activity, JUN kinase binding, protein tyrosine/threonine phosphatase activity, protein tyrosine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:1990264, GO:1905042, GO:1903753, GO:1903753, GO:0090335, GO:0070373, GO:0060266, GO:0050680, GO:0048715, GO:0048709, GO:0046329, GO:0045591, GO:0044387, GO:0043508, GO:0043508, GO:0035970, GO:0035970, GO:0035335, GO:0032496, GO:0030336, GO:0016311, GO:0010633, GO:0006470, GO:0006470, GO:0002819, GO:0000188, GO:0000188, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, negative regulation of epithelium regeneration, negative regulation of p38MAPK cascade, negative regulation of p38MAPK cascade, regulation of brown fat cell differentiation, negative regulation of ERK1 and ERK2 cascade, negative regulation of respiratory burst involved in inflammatory response, negative regulation of epithelial cell proliferation, negative regulation of oligodendrocyte differentiation, oligodendrocyte differentiation, negative regulation of JNK cascade, positive regulation of regulatory T cell differentiation, negative regulation of protein kinase activity by regulation of protein phosphorylation, negative regulation of JUN kinase activity, negative regulation of JUN kinase activity, peptidyl-threonine dephosphorylation, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, response to lipopolysaccharide, negative regulation of cell migration, dephosphorylation, negative regulation of epithelial cell migration, protein dephosphorylation, protein dephosphorylation, regulation of adaptive immune response, inactivation of MAPK activity, inactivation of MAPK activity, 37 33 54 87 35 121 84 57 50 ENSG00000143512 chr1 222522258 222548103 - HHIPL2 protein_coding 79802 GO:0005576, extracellular region, GO:0005515, GO:0003824, protein binding, catalytic activity, 0 0 0 0 0 0 0 0 0 ENSG00000143514 chr1 223779899 223845972 - TP53BP2 protein_coding This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7159 GO:0048471, GO:0048471, GO:0030054, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, perinuclear region of cytoplasm, cell junction, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0051059, GO:0042802, GO:0017124, GO:0005515, GO:0002039, GO:0002039, NF-kappaB binding, identical protein binding, SH3 domain binding, protein binding, p53 binding, p53 binding, GO:1901796, GO:1901216, GO:1900740, GO:1900119, GO:0072332, GO:0045786, GO:0042981, GO:0007165, GO:0007049, regulation of signal transduction by p53 class mediator, positive regulation of neuron death, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, positive regulation of execution phase of apoptosis, intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of cell cycle, regulation of apoptotic process, signal transduction, cell cycle, 891 501 1313 682 446 850 710 309 697 ENSG00000143515 chr1 154325553 154351307 + ATP8B2 protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 57198 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005802, GO:0005794, GO:0005789, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum membrane, GO:0140326, GO:0005524, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATP binding, magnesium ion binding, GO:0045332, GO:0034220, GO:0007030, phospholipid translocation, ion transmembrane transport, Golgi organization, 155 143 244 299 81 324 269 85 252 ENSG00000143520 chr1 152348735 152360006 - FLG2 protein_coding The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020]. 388698 GO:1904724, GO:0036457, GO:0005737, GO:0005634, GO:0005576, GO:0001533, tertiary granule lumen, keratohyalin granule, cytoplasm, nucleus, extracellular region, cornified envelope, GO:0046914, GO:0005509, GO:0005198, transition metal ion binding, calcium ion binding, structural molecule activity, GO:0061436, GO:0061436, GO:0048730, GO:0043312, GO:0007155, establishment of skin barrier, establishment of skin barrier, epidermis morphogenesis, neutrophil degranulation, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000143536 chr1 152409243 152414263 - CRNN protein_coding This gene encodes a member of the 'fused gene' family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]. 49860 GO:0070062, GO:0016020, GO:0005737, extracellular exosome, membrane, cytoplasm, GO:0048306, GO:0046914, GO:0005515, GO:0005509, GO:0005509, calcium-dependent protein binding, transition metal ion binding, protein binding, calcium ion binding, calcium ion binding, GO:1902808, GO:1902808, GO:0098609, GO:0071345, GO:0071345, GO:0051092, GO:0051092, GO:0014066, GO:0014066, GO:0010838, GO:0010468, GO:0009408, positive regulation of cell cycle G1/S phase transition, positive regulation of cell cycle G1/S phase transition, cell-cell adhesion, cellular response to cytokine stimulus, cellular response to cytokine stimulus, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, regulation of phosphatidylinositol 3-kinase signaling, regulation of phosphatidylinositol 3-kinase signaling, positive regulation of keratinocyte proliferation, regulation of gene expression, response to heat, 0 0 0 0 0 0 0 0 0 ENSG00000143537 chr1 155050566 155062775 + ADAM15 protein_coding The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 8751 GO:0070062, GO:0031514, GO:0016021, GO:0009986, GO:0005912, GO:0005886, GO:0005615, GO:0001669, extracellular exosome, motile cilium, integral component of membrane, cell surface, adherens junction, plasma membrane, extracellular space, acrosomal vesicle, GO:0046872, GO:0017124, GO:0008237, GO:0008237, GO:0005515, GO:0005178, GO:0005178, GO:0004222, metal ion binding, SH3 domain binding, metallopeptidase activity, metallopeptidase activity, protein binding, integrin binding, integrin binding, metalloendopeptidase activity, GO:1990910, GO:1904628, GO:1900121, GO:0060317, GO:0045087, GO:0045087, GO:0042246, GO:0030574, GO:0030336, GO:0030308, GO:0030198, GO:0022617, GO:0008584, GO:0007229, GO:0007229, GO:0007160, GO:0006915, GO:0006508, GO:0002418, GO:0001953, GO:0001525, response to hypobaric hypoxia, cellular response to phorbol 13-acetate 12-myristate, negative regulation of receptor binding, cardiac epithelial to mesenchymal transition, innate immune response, innate immune response, tissue regeneration, collagen catabolic process, negative regulation of cell migration, negative regulation of cell growth, extracellular matrix organization, extracellular matrix disassembly, male gonad development, integrin-mediated signaling pathway, integrin-mediated signaling pathway, cell-matrix adhesion, apoptotic process, proteolysis, immune response to tumor cell, negative regulation of cell-matrix adhesion, angiogenesis, 55 78 132 47 83 101 36 63 71 ENSG00000143543 chr1 153974269 153977688 - JTB protein_coding 10899 GO:0030496, GO:0030496, GO:0016020, GO:0005887, GO:0005819, GO:0005819, GO:0005813, GO:0005813, GO:0005739, GO:0005737, GO:0005737, midbody, midbody, membrane, integral component of plasma membrane, spindle, spindle, centrosome, centrosome, mitochondrion, cytoplasm, cytoplasm, GO:0019901, protein kinase binding, GO:0045860, GO:0006915, GO:0000281, GO:0000281, GO:0000278, positive regulation of protein kinase activity, apoptotic process, mitotic cytokinesis, mitotic cytokinesis, mitotic cell cycle, 111 83 79 49 78 65 58 75 47 ENSG00000143545 chr1 153981617 153986358 - RAB13 protein_coding This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013]. 5872 GO:0070062, GO:0055038, GO:0055037, GO:0043005, GO:0032593, GO:0031410, GO:0030659, GO:0030140, GO:0030139, GO:0030054, GO:0030027, GO:0016328, GO:0008021, GO:0005923, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005802, GO:0005794, GO:0005768, extracellular exosome, recycling endosome membrane, recycling endosome, neuron projection, insulin-responsive compartment, cytoplasmic vesicle, cytoplasmic vesicle membrane, trans-Golgi network transport vesicle, endocytic vesicle, cell junction, lamellipodium, lateral plasma membrane, synaptic vesicle, bicellular tight junction, plasma membrane, plasma membrane, cytosol, cytosol, trans-Golgi network, Golgi apparatus, endosome, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0097368, GO:0072659, GO:0072659, GO:0070830, GO:0048210, GO:0044795, GO:0043687, GO:0035767, GO:0032869, GO:0032869, GO:0032456, GO:0031175, GO:0030866, GO:0017157, GO:0016197, GO:0010737, GO:0009306, GO:0006904, establishment of Sertoli cell barrier, protein localization to plasma membrane, protein localization to plasma membrane, bicellular tight junction assembly, Golgi vesicle fusion to target membrane, trans-Golgi network to recycling endosome transport, post-translational protein modification, endothelial cell chemotaxis, cellular response to insulin stimulus, cellular response to insulin stimulus, endocytic recycling, neuron projection development, cortical actin cytoskeleton organization, regulation of exocytosis, endosomal transport, protein kinase A signaling, protein secretion, vesicle docking involved in exocytosis, 0 1 1 2 0 0 0 1 4 ENSG00000143546 chr1 153390032 153391188 - S100A8 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 6279 GO:0070062, GO:0062023, GO:0045111, GO:0034774, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, intermediate filament cytoskeleton, secretory granule lumen, plasma membrane, cytoskeleton, cytosol, cytosol, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0050786, GO:0050544, GO:0048306, GO:0035662, GO:0008270, GO:0008017, GO:0005515, GO:0005509, GO:0005509, RAGE receptor binding, arachidonic acid binding, calcium-dependent protein binding, Toll-like receptor 4 binding, zinc ion binding, microtubule binding, protein binding, calcium ion binding, calcium ion binding, GO:2001244, GO:0070488, GO:0070488, GO:0051493, GO:0051092, GO:0050832, GO:0050729, GO:0045471, GO:0045087, GO:0043312, GO:0042742, GO:0042060, GO:0035425, GO:0032602, GO:0032496, GO:0032119, GO:0030593, GO:0030593, GO:0030307, GO:0019730, GO:0018119, GO:0014002, GO:0010043, GO:0006954, GO:0006919, GO:0006915, GO:0006914, GO:0002793, GO:0002544, GO:0002526, GO:0002523, GO:0002523, GO:0002224, GO:0001816, positive regulation of intrinsic apoptotic signaling pathway, neutrophil aggregation, neutrophil aggregation, regulation of cytoskeleton organization, positive regulation of NF-kappaB transcription factor activity, defense response to fungus, positive regulation of inflammatory response, response to ethanol, innate immune response, neutrophil degranulation, defense response to bacterium, wound healing, autocrine signaling, chemokine production, response to lipopolysaccharide, sequestering of zinc ion, neutrophil chemotaxis, neutrophil chemotaxis, positive regulation of cell growth, antimicrobial humoral response, peptidyl-cysteine S-nitrosylation, astrocyte development, response to zinc ion, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, autophagy, positive regulation of peptide secretion, chronic inflammatory response, acute inflammatory response, leukocyte migration involved in inflammatory response, leukocyte migration involved in inflammatory response, toll-like receptor signaling pathway, cytokine production, 28966 16156 32581 7783 13213 13016 9847 13921 12728 ENSG00000143549 chr1 154155304 154194648 - TPM3 protein_coding This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 7170 GO:0070062, GO:0015629, GO:0005884, GO:0005862, GO:0005856, GO:0005856, GO:0005829, GO:0005829, GO:0001725, extracellular exosome, actin cytoskeleton, actin filament, muscle thin filament tropomyosin, cytoskeleton, cytoskeleton, cytosol, cytosol, stress fiber, GO:0051015, GO:0005515, GO:0003674, actin filament binding, protein binding, molecular_function, GO:0030049, GO:0007015, GO:0006936, GO:0006936, muscle filament sliding, actin filament organization, muscle contraction, muscle contraction, 9755 8383 12031 10977 12086 13264 10801 8627 10130 ENSG00000143552 chr1 153992685 154155116 - NUP210L protein_coding 91181 GO:0016021, GO:0005643, integral component of membrane, nuclear pore, GO:0060009, GO:0007286, Sertoli cell development, spermatid development, 1 2 1 10 26 25 12 13 9 ENSG00000143553 chr1 153658654 153661830 + SNAPIN protein_coding The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 23557 GO:1904115, GO:0099078, GO:0099078, GO:0048471, GO:0045202, GO:0031083, GO:0031083, GO:0030672, GO:0030141, GO:0008021, GO:0008021, GO:0005765, GO:0000139, axon cytoplasm, BORC complex, BORC complex, perinuclear region of cytoplasm, synapse, BLOC-1 complex, BLOC-1 complex, synaptic vesicle membrane, secretory granule, synaptic vesicle, synaptic vesicle, lysosomal membrane, Golgi membrane, GO:0005515, GO:0000149, GO:0000149, protein binding, SNARE binding, SNARE binding, GO:2000300, GO:1902824, GO:0048490, GO:0048489, GO:0043393, GO:0032438, GO:0032418, GO:0032418, GO:0031175, GO:0016079, GO:0016079, GO:0016032, GO:0008333, GO:0008333, GO:0008089, GO:0007269, GO:0007040, GO:0006886, regulation of synaptic vesicle exocytosis, positive regulation of late endosome to lysosome transport, anterograde synaptic vesicle transport, synaptic vesicle transport, regulation of protein binding, melanosome organization, lysosome localization, lysosome localization, neuron projection development, synaptic vesicle exocytosis, synaptic vesicle exocytosis, viral process, endosome to lysosome transport, endosome to lysosome transport, anterograde axonal transport, neurotransmitter secretion, lysosome organization, intracellular protein transport, 35 28 49 57 43 30 27 46 51 ENSG00000143554 chr1 153774354 153780157 + SLC27A3 protein_coding This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 11000 GO:0031966, GO:0016021, GO:0016020, GO:0005783, GO:0005783, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, membrane, endoplasmic reticulum, endoplasmic reticulum, mitochondrion, mitochondrion, GO:0047676, GO:0031957, GO:0005524, GO:0005324, GO:0004467, GO:0004467, arachidonate-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, ATP binding, long-chain fatty acid transporter activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, GO:0015909, GO:0015908, GO:0001676, long-chain fatty acid transport, fatty acid transport, long-chain fatty acid metabolic process, 20 7 4 12 2 2 11 1 12 ENSG00000143556 chr1 153457744 153460701 - S100A7 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities against bacteria and induces immunomodulatory activities. [provided by RefSeq, Nov 2014]. 6278 GO:0062023, GO:0035578, GO:0005925, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, azurophil granule lumen, focal adhesion, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, extracellular region, GO:0050786, GO:0048306, GO:0008270, GO:0008270, GO:0005515, GO:0005509, GO:0005509, RAGE receptor binding, calcium-dependent protein binding, zinc ion binding, zinc ion binding, protein binding, calcium ion binding, calcium ion binding, GO:0090026, GO:0071624, GO:0070374, GO:0061844, GO:0051238, GO:0050829, GO:0045087, GO:0043312, GO:0032496, GO:0030216, GO:0019730, GO:0010820, GO:0008544, GO:0001525, GO:0000302, positive regulation of monocyte chemotaxis, positive regulation of granulocyte chemotaxis, positive regulation of ERK1 and ERK2 cascade, antimicrobial humoral immune response mediated by antimicrobial peptide, sequestering of metal ion, defense response to Gram-negative bacterium, innate immune response, neutrophil degranulation, response to lipopolysaccharide, keratinocyte differentiation, antimicrobial humoral response, positive regulation of T cell chemotaxis, epidermis development, angiogenesis, response to reactive oxygen species, 0 0 0 0 1 2 0 0 0 ENSG00000143569 chr1 154220179 154271510 + UBAP2L protein_coding 9898 GO:0031519, GO:0010494, GO:0005737, GO:0005671, GO:0005634, PcG protein complex, cytoplasmic stress granule, cytoplasm, Ada2/Gcn5/Ada3 transcription activator complex, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0061484, GO:0061484, GO:0034063, GO:0007339, hematopoietic stem cell homeostasis, hematopoietic stem cell homeostasis, stress granule assembly, binding of sperm to zona pellucida, 1429 1643 1707 2701 2545 2608 2491 1819 1884 ENSG00000143570 chr1 153959099 153968184 - SLC39A1 protein_coding This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 27173 GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, GO:0005789, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0022890, GO:0005515, GO:0005385, GO:0005102, inorganic cation transmembrane transporter activity, protein binding, zinc ion transmembrane transporter activity, signaling receptor binding, GO:0071577, GO:0071577, GO:0060173, GO:0048701, GO:0006812, GO:0001701, zinc ion transmembrane transport, zinc ion transmembrane transport, limb development, embryonic cranial skeleton morphogenesis, cation transport, in utero embryonic development, 9 8 8 13 16 12 3 13 7 ENSG00000143575 chr1 154272511 154275875 + HAX1 protein_coding The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10456 GO:0031965, GO:0030136, GO:0030027, GO:0016529, GO:0016324, GO:0015629, GO:0015629, GO:0005938, GO:0005783, GO:0005758, GO:0005741, GO:0005739, GO:0005739, GO:0005667, GO:0005635, GO:0000932, nuclear membrane, clathrin-coated vesicle, lamellipodium, sarcoplasmic reticulum, apical plasma membrane, actin cytoskeleton, actin cytoskeleton, cell cortex, endoplasmic reticulum, mitochondrial intermembrane space, mitochondrial outer membrane, mitochondrion, mitochondrion, transcription regulator complex, nuclear envelope, P-body, GO:0047485, GO:0019966, GO:0005515, protein N-terminus binding, interleukin-1 binding, protein binding, GO:2000251, GO:1903214, GO:1903146, GO:0071345, GO:0051897, GO:0050731, GO:0045944, GO:0043066, GO:0043066, GO:0042981, GO:0033138, GO:0030854, GO:0030833, GO:0030833, GO:0014068, GO:0007005, positive regulation of actin cytoskeleton reorganization, regulation of protein targeting to mitochondrion, regulation of autophagy of mitochondrion, cellular response to cytokine stimulus, positive regulation of protein kinase B signaling, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, negative regulation of apoptotic process, regulation of apoptotic process, positive regulation of peptidyl-serine phosphorylation, positive regulation of granulocyte differentiation, regulation of actin filament polymerization, regulation of actin filament polymerization, positive regulation of phosphatidylinositol 3-kinase signaling, mitochondrion organization, 253 274 290 375 406 392 282 289 276 ENSG00000143578 chr1 153967534 153974363 + CREB3L4 protein_coding This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 148327 GO:0031965, GO:0016021, GO:0005794, GO:0005789, GO:0005783, GO:0005739, GO:0005654, GO:0005634, GO:0000785, GO:0000139, nuclear membrane, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, nucleoplasm, nucleus, chromatin, Golgi membrane, GO:1990837, GO:0035497, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, cAMP response element binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030968, GO:0007283, GO:0006357, positive regulation of transcription by RNA polymerase II, endoplasmic reticulum unfolded protein response, spermatogenesis, regulation of transcription by RNA polymerase II, 0 6 4 8 14 4 2 9 9 ENSG00000143590 chr1 155078872 155087538 + EFNA3 protein_coding This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008]. 1944 GO:0031226, GO:0031225, GO:0005886, GO:0005886, GO:0005886, intrinsic component of plasma membrane, anchored component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0046875, GO:0046875, GO:0005515, GO:0005005, ephrin receptor binding, ephrin receptor binding, protein binding, transmembrane-ephrin receptor activity, GO:1902961, GO:0048013, GO:0048013, GO:0048013, GO:0048013, GO:0016525, GO:0007411, GO:0007267, positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, negative regulation of angiogenesis, axon guidance, cell-cell signaling, 2 6 0 2 4 2 0 0 0 ENSG00000143595 chr1 154321090 154325325 + AQP10 protein_coding This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008]. 89872 GO:0016324, GO:0005887, GO:0005886, GO:0005811, apical plasma membrane, integral component of plasma membrane, plasma membrane, lipid droplet, GO:0015254, GO:0015250, GO:0015204, GO:0005515, glycerol channel activity, water channel activity, urea transmembrane transporter activity, protein binding, GO:0071918, GO:0071468, GO:0051289, GO:0015793, GO:0009636, GO:0006833, GO:0006833, urea transmembrane transport, cellular response to acidic pH, protein homotetramerization, glycerol transport, response to toxic substance, water transport, water transport, 0 0 0 0 0 0 0 1 0 ENSG00000143603 chr1 154697455 154870280 - KCNN3 protein_coding Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 3782 GO:0043025, GO:0043005, GO:0016021, GO:0005886, GO:0005886, neuronal cell body, neuron projection, integral component of membrane, plasma membrane, plasma membrane, GO:0016286, GO:0016286, GO:0005516, GO:0005516, small conductance calcium-activated potassium channel activity, small conductance calcium-activated potassium channel activity, calmodulin binding, calmodulin binding, GO:0071805, GO:0006811, potassium ion transmembrane transport, ion transport, 0 0 4 0 0 0 0 0 6 ENSG00000143612 chr1 154206696 154220637 - C1orf43 protein_coding 25912 GO:0016021, GO:0005794, GO:0005739, integral component of membrane, Golgi apparatus, mitochondrion, GO:0006909, phagocytosis, 1093 1153 1345 1035 1265 1124 1095 897 916 ENSG00000143614 chr1 153789030 153923360 - GATAD2B protein_coding This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]. 57459 GO:0032991, GO:0016607, GO:0016581, GO:0005654, GO:0000785, protein-containing complex, nuclear speck, NuRD complex, nucleoplasm, chromatin, GO:0043565, GO:0031492, GO:0008270, GO:0005515, sequence-specific DNA binding, nucleosomal DNA binding, zinc ion binding, protein binding, GO:0043044, GO:0000122, ATP-dependent chromatin remodeling, negative regulation of transcription by RNA polymerase II, 127 93 87 24 53 57 40 38 25 ENSG00000143621 chr1 153661788 153671048 - ILF2 protein_coding The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]. 3608 GO:1990904, GO:1904813, GO:1904724, GO:0035580, GO:0016020, GO:0005730, GO:0005654, GO:0005634, GO:0005576, GO:0005576, ribonucleoprotein complex, ficolin-1-rich granule lumen, tertiary granule lumen, specific granule lumen, membrane, nucleolus, nucleoplasm, nucleus, extracellular region, extracellular region, GO:0005515, GO:0003725, GO:0003723, GO:0003677, protein binding, double-stranded RNA binding, RNA binding, DNA binding, GO:0045893, GO:0043312, positive regulation of transcription, DNA-templated, neutrophil degranulation, 129 122 187 299 183 326 258 128 204 ENSG00000143622 chr1 155897808 155911404 - RIT1 protein_coding This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 6016 GO:0005886, plasma membrane, GO:0019003, GO:0005525, GO:0005525, GO:0005516, GO:0005515, GO:0003924, GO:0003924, GDP binding, GTP binding, GTP binding, calmodulin binding, protein binding, GTPase activity, GTPase activity, GO:0007265, GO:0007265, GO:0007165, Ras protein signal transduction, Ras protein signal transduction, signal transduction, 2676 2428 2766 1449 2053 1939 1589 1545 1398 ENSG00000143624 chr1 153728067 153774808 + INTS3 protein_coding The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]. 65123 GO:0070876, GO:0032039, GO:0005737, GO:0005654, GO:0005634, SOSS complex, integrator complex, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0042795, GO:0016180, GO:0010212, GO:0007093, GO:0006974, GO:0006281, snRNA transcription by RNA polymerase II, snRNA processing, response to ionizing radiation, mitotic cell cycle checkpoint, cellular response to DNA damage stimulus, DNA repair, 127 226 479 18 156 19 12 155 292 ENSG00000143627 chr1 155289293 155301438 - PKLR protein_coding The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5313 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0030955, GO:0016301, GO:0005524, GO:0005515, GO:0004743, GO:0004743, GO:0000287, potassium ion binding, kinase activity, ATP binding, protein binding, pyruvate kinase activity, pyruvate kinase activity, magnesium ion binding, GO:0071872, GO:0061621, GO:0051591, GO:0042866, GO:0033198, GO:0032869, GO:0010226, GO:0009749, GO:0009408, GO:0007584, GO:0006754, GO:0006096, GO:0001666, cellular response to epinephrine stimulus, canonical glycolysis, response to cAMP, pyruvate biosynthetic process, response to ATP, cellular response to insulin stimulus, response to lithium ion, response to glucose, response to heat, response to nutrient, ATP biosynthetic process, glycolytic process, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000143630 chr1 155277583 155289848 + HCN3 protein_coding This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 57657 GO:0044316, GO:0043025, GO:0030425, GO:0005887, GO:0005886, GO:0005886, cone cell pedicle, neuronal cell body, dendrite, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0030552, GO:0005515, GO:0005249, GO:0005248, cAMP binding, protein binding, voltage-gated potassium channel activity, voltage-gated sodium channel activity, GO:1903351, GO:0072718, GO:0071805, GO:0071320, GO:0042391, GO:0035725, GO:0034765, cellular response to dopamine, response to cisplatin, potassium ion transmembrane transport, cellular response to cAMP, regulation of membrane potential, sodium ion transmembrane transport, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000143631 chr1 152302175 152325203 - FLG protein_coding The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]. 2312 GO:0062023, GO:0036464, GO:0036457, GO:0036457, GO:0005882, GO:0005829, GO:0005634, GO:0001533, GO:0001533, collagen-containing extracellular matrix, cytoplasmic ribonucleoprotein granule, keratohyalin granule, keratohyalin granule, intermediate filament, cytosol, nucleus, cornified envelope, cornified envelope, GO:0046914, GO:0030280, GO:0005515, GO:0005509, GO:0005198, transition metal ion binding, structural constituent of skin epidermis, protein binding, calcium ion binding, structural molecule activity, GO:0070268, GO:0061436, GO:0061436, GO:0030216, GO:0018149, GO:0007275, cornification, establishment of skin barrier, establishment of skin barrier, keratinocyte differentiation, peptide cross-linking, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000143632 chr1 229431245 229434098 - ACTA1 protein_coding The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]. 58 GO:0072562, GO:0070062, GO:0044297, GO:0030175, GO:0030027, GO:0030017, GO:0015629, GO:0005884, GO:0005884, GO:0005869, GO:0005865, GO:0005865, GO:0005829, GO:0005615, GO:0001725, GO:0001725, blood microparticle, extracellular exosome, cell body, filopodium, lamellipodium, sarcomere, actin cytoskeleton, actin filament, actin filament, dynactin complex, striated muscle thin filament, striated muscle thin filament, cytosol, extracellular space, stress fiber, stress fiber, GO:0043531, GO:0017022, GO:0005524, GO:0005515, GO:0005200, ADP binding, myosin binding, ATP binding, protein binding, structural constituent of cytoskeleton, GO:0090131, GO:0071417, GO:0048741, GO:0048545, GO:0043503, GO:0030240, GO:0030240, GO:0030049, GO:0010628, GO:0010226, GO:0009991, GO:0009612, GO:0006936, mesenchyme migration, cellular response to organonitrogen compound, skeletal muscle fiber development, response to steroid hormone, skeletal muscle fiber adaptation, skeletal muscle thin filament assembly, skeletal muscle thin filament assembly, muscle filament sliding, positive regulation of gene expression, response to lithium ion, response to extracellular stimulus, response to mechanical stimulus, muscle contraction, 0 0 0 0 3 0 2 0 0 ENSG00000143633 chr1 231223763 231241187 - C1orf131 protein_coding 128061 GO:0005694, chromosome, GO:0003723, RNA binding, 49 40 47 28 52 23 33 21 33 ENSG00000143641 chr1 230057990 230282124 + GALNT2 protein_coding This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 2590 GO:0048471, GO:0032580, GO:0030173, GO:0016020, GO:0005795, GO:0005794, GO:0005794, GO:0005794, GO:0005789, GO:0005576, GO:0000139, perinuclear region of cytoplasm, Golgi cisterna membrane, integral component of Golgi membrane, membrane, Golgi stack, Golgi apparatus, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, extracellular region, Golgi membrane, GO:0030246, GO:0030145, GO:0005515, GO:0004653, carbohydrate binding, manganese ion binding, protein binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0018243, GO:0018242, GO:0016266, GO:0016266, GO:0006493, GO:0002377, protein O-linked glycosylation via threonine, protein O-linked glycosylation via serine, O-glycan processing, O-glycan processing, protein O-linked glycosylation, immunoglobulin production, 247 221 299 193 179 197 196 134 189 ENSG00000143643 chr1 230906243 230978875 - TTC13 protein_coding 79573 113 126 133 178 237 224 183 164 167 ENSG00000143653 chr1 246724047 246768137 + SCCPDH protein_coding 51097 GO:0031093, GO:0030496, GO:0016020, GO:0005886, GO:0005811, GO:0005811, GO:0005739, GO:0005739, GO:0005634, GO:0005576, platelet alpha granule lumen, midbody, membrane, plasma membrane, lipid droplet, lipid droplet, mitochondrion, mitochondrion, nucleus, extracellular region, GO:0016491, oxidoreductase activity, GO:0055114, GO:0009247, GO:0002576, oxidation-reduction process, glycolipid biosynthetic process, platelet degranulation, 9 20 26 22 24 33 18 10 13 ENSG00000143669 chr1 235661041 235883640 - LYST protein_coding This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]. 1130 GO:0016020, GO:0015630, GO:0005829, membrane, microtubule cytoskeleton, cytosol, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0051607, GO:0043473, GO:0042832, GO:0042742, GO:0042267, GO:0033364, GO:0032510, GO:0032438, GO:0030595, GO:0015031, GO:0008104, GO:0007040, GO:0006909, defense response to virus, pigmentation, defense response to protozoan, defense response to bacterium, natural killer cell mediated cytotoxicity, mast cell secretory granule organization, endosome to lysosome transport via multivesicular body sorting pathway, melanosome organization, leukocyte chemotaxis, protein transport, protein localization, lysosome organization, phagocytosis, 12420 13232 17200 6415 11249 11899 8537 8263 10351 ENSG00000143674 chr1 233327768 233385148 + MAP3K21 protein_coding 84451 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0042803, GO:0005524, GO:0005515, GO:0004709, GO:0004672, protein homodimerization activity, ATP binding, protein binding, MAP kinase kinase kinase activity, protein kinase activity, GO:0046777, GO:0007257, GO:0007165, GO:0006468, GO:0000186, protein autophosphorylation, activation of JUN kinase activity, signal transduction, protein phosphorylation, activation of MAPKK activity, 9 21 30 10 8 18 8 16 33 ENSG00000143702 chr1 243124428 243255348 - CEP170 protein_coding The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. 9859 GO:0120103, GO:0072686, GO:0005874, GO:0005829, GO:0005814, GO:0005813, centriolar subdistal appendage, mitotic spindle, microtubule, cytosol, centriole, centrosome, GO:0005515, protein binding, 23 75 105 17 24 51 68 77 85 ENSG00000143727 chr2 264140 278283 + ACP1 protein_coding The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]. 52 GO:0070062, GO:0009898, GO:0005737, extracellular exosome, cytoplasmic side of plasma membrane, cytoplasm, GO:0005515, GO:0004726, GO:0004725, GO:0003993, protein binding, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, acid phosphatase activity, GO:0035335, peptidyl-tyrosine dephosphorylation, 51 52 82 168 72 98 68 52 59 ENSG00000143740 chr1 227728539 227781231 + SNAP47 protein_coding 116841 GO:0098686, GO:0048471, GO:0043025, GO:0031201, GO:0031083, GO:0030672, GO:0030425, GO:0014069, GO:0005886, hippocampal mossy fiber to CA3 synapse, perinuclear region of cytoplasm, neuronal cell body, SNARE complex, BLOC-1 complex, synaptic vesicle membrane, dendrite, postsynaptic density, plasma membrane, GO:0019905, GO:0005515, GO:0005484, syntaxin binding, protein binding, SNAP receptor activity, GO:0098967, GO:0060291, GO:0031629, GO:0016082, GO:0006906, GO:0006887, exocytic insertion of neurotransmitter receptor to postsynaptic membrane, long-term synaptic potentiation, synaptic vesicle fusion to presynaptic active zone membrane, synaptic vesicle priming, vesicle fusion, exocytosis, 25 27 35 45 25 29 42 33 49 ENSG00000143742 chr1 225777813 225790466 + SRP9 protein_coding 6726 GO:0005829, GO:0005786, GO:0005786, GO:0005785, cytosol, signal recognition particle, endoplasmic reticulum targeting, signal recognition particle, endoplasmic reticulum targeting, signal recognition particle receptor complex, GO:0008312, GO:0005515, GO:0005047, GO:0003723, 7S RNA binding, protein binding, signal recognition particle binding, RNA binding, GO:0045900, GO:0006614, GO:0006614, negative regulation of translational elongation, SRP-dependent cotranslational protein targeting to membrane, SRP-dependent cotranslational protein targeting to membrane, 484 571 615 268 469 441 405 434 400 ENSG00000143748 chr1 224227334 224330387 - NVL protein_coding This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]. 4931 GO:0016020, GO:0005730, GO:0005730, GO:0005697, GO:0005654, GO:0005634, GO:0005634, GO:0000176, membrane, nucleolus, nucleolus, telomerase holoenzyme complex, nucleoplasm, nucleus, nucleus, nuclear exosome (RNase complex), GO:1990275, GO:1990275, GO:0016887, GO:0005524, GO:0005515, GO:0003723, preribosome binding, preribosome binding, ATPase activity, ATP binding, protein binding, RNA binding, GO:1904749, GO:0051973, GO:0051973, GO:0042273, GO:0042273, GO:0042254, GO:0042254, GO:0032092, GO:0006364, regulation of protein localization to nucleolus, positive regulation of telomerase activity, positive regulation of telomerase activity, ribosomal large subunit biogenesis, ribosomal large subunit biogenesis, ribosome biogenesis, ribosome biogenesis, positive regulation of protein binding, rRNA processing, 18 23 41 40 35 46 40 20 50 ENSG00000143751 chr1 225982702 225999331 - SDE2 protein_coding 163859 GO:0016607, GO:0005886, GO:0005829, GO:0005794, GO:0005654, GO:0005634, GO:0005634, nuclear speck, plasma membrane, cytosol, Golgi apparatus, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003684, protein binding, damaged DNA binding, GO:0071156, GO:0051301, GO:0034644, GO:0016567, GO:0016485, GO:0007049, GO:0006260, regulation of cell cycle arrest, cell division, cellular response to UV, protein ubiquitination, protein processing, cell cycle, DNA replication, 2158 2890 1725 340 778 609 473 600 480 ENSG00000143753 chr1 224175756 224193441 + DEGS1 protein_coding This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]. 8560 GO:0035579, GO:0031966, GO:0016020, GO:0005887, GO:0005886, GO:0005789, GO:0005783, GO:0005739, specific granule membrane, mitochondrial membrane, membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, GO:0050251, GO:0042284, GO:0042284, GO:0042284, GO:0009055, GO:0005515, retinol isomerase activity, sphingolipid delta-4 desaturase activity, sphingolipid delta-4 desaturase activity, sphingolipid delta-4 desaturase activity, electron transfer activity, protein binding, GO:0046513, GO:0043312, GO:0043217, GO:0030148, GO:0022900, GO:0006636, ceramide biosynthetic process, neutrophil degranulation, myelin maintenance, sphingolipid biosynthetic process, electron transport chain, unsaturated fatty acid biosynthetic process, 429 335 694 222 250 345 251 197 269 ENSG00000143756 chr1 224114087 224162047 + FBXO28 protein_coding Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 23219 GO:0000777, GO:0000776, condensed chromosome kinetochore, kinetochore, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0000209, protein polyubiquitination, 412 430 465 213 261 244 155 171 151 ENSG00000143761 chr1 228082660 228099212 + ARF1 protein_coding ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 375 GO:0098978, GO:0070062, GO:0048471, GO:0043005, GO:0032991, GO:0031252, GO:0030137, GO:0030017, GO:0014069, GO:0005925, GO:0005886, GO:0005829, GO:0005802, GO:0005778, GO:0005770, GO:0005737, GO:0000139, glutamatergic synapse, extracellular exosome, perinuclear region of cytoplasm, neuron projection, protein-containing complex, cell leading edge, COPI-coated vesicle, sarcomere, postsynaptic density, focal adhesion, plasma membrane, cytosol, trans-Golgi network, peroxisomal membrane, late endosome, cytoplasm, Golgi membrane, GO:1990583, GO:0019904, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003723, GO:0000287, phospholipase D activator activity, protein domain specific binding, GDP binding, GTP binding, protein binding, GTPase activity, RNA binding, magnesium ion binding, GO:1990386, GO:1903725, GO:1902953, GO:1902824, GO:1902307, GO:0098974, GO:0098586, GO:0097212, GO:0097061, GO:0070142, GO:0060999, GO:0060292, GO:0055108, GO:0050714, GO:0050690, GO:0045956, GO:0045807, GO:0043085, GO:0035722, GO:0034379, GO:0034315, GO:0019886, GO:0016192, GO:0007015, GO:0006886, GO:0006878, GO:0006661, GO:0002090, mitotic cleavage furrow ingression, regulation of phospholipid metabolic process, positive regulation of ER to Golgi vesicle-mediated transport, positive regulation of late endosome to lysosome transport, positive regulation of sodium ion transmembrane transport, postsynaptic actin cytoskeleton organization, cellular response to virus, lysosomal membrane organization, dendritic spine organization, synaptic vesicle budding, positive regulation of dendritic spine development, long-term synaptic depression, Golgi to transport vesicle transport, positive regulation of protein secretion, regulation of defense response to virus by virus, positive regulation of calcium ion-dependent exocytosis, positive regulation of endocytosis, positive regulation of catalytic activity, interleukin-12-mediated signaling pathway, very-low-density lipoprotein particle assembly, regulation of Arp2/3 complex-mediated actin nucleation, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, actin filament organization, intracellular protein transport, cellular copper ion homeostasis, phosphatidylinositol biosynthetic process, regulation of receptor internalization, 5837 6004 7123 3506 4975 4212 3768 4305 3808 ENSG00000143768 chr1 225936598 225941489 - LEFTY2 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]. 7044 GO:0062023, GO:0031093, GO:0005615, GO:0005576, collagen-containing extracellular matrix, platelet alpha granule lumen, extracellular space, extracellular region, GO:0008083, GO:0005160, GO:0005125, growth factor activity, transforming growth factor beta receptor binding, cytokine activity, GO:0060395, GO:0030509, GO:0010862, GO:0007275, GO:0007179, GO:0002576, SMAD protein signal transduction, BMP signaling pathway, positive regulation of pathway-restricted SMAD protein phosphorylation, multicellular organism development, transforming growth factor beta receptor signaling pathway, platelet degranulation, 0 0 0 0 0 0 0 0 0 ENSG00000143771 chr1 224356850 224379459 + CNIH4 protein_coding 29097 GO:0030134, GO:0016021, GO:0005793, GO:0005789, GO:0005783, COPII-coated ER to Golgi transport vesicle, integral component of membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0031730, GO:0005515, CCR5 chemokine receptor binding, protein binding, GO:0015031, GO:0006888, GO:0006888, protein transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 104 70 104 73 76 95 90 55 54 ENSG00000143772 chr1 226631690 226739323 - ITPKB protein_coding The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]. 3707 GO:0016020, GO:0005829, GO:0005737, GO:0005634, membrane, cytosol, cytoplasm, nucleus, GO:0016301, GO:0008440, GO:0005524, GO:0005516, GO:0005515, GO:0000828, kinase activity, inositol-1,4,5-trisphosphate 3-kinase activity, ATP binding, calmodulin binding, protein binding, inositol hexakisphosphate kinase activity, GO:0071277, GO:0046854, GO:0046638, GO:0046579, GO:0045638, GO:0045059, GO:0043647, GO:0035726, GO:0033030, GO:0032958, GO:0032957, GO:0007166, GO:0007165, GO:0002262, GO:0001932, GO:0000165, cellular response to calcium ion, phosphatidylinositol phosphorylation, positive regulation of alpha-beta T cell differentiation, positive regulation of Ras protein signal transduction, negative regulation of myeloid cell differentiation, positive thymic T cell selection, inositol phosphate metabolic process, common myeloid progenitor cell proliferation, negative regulation of neutrophil apoptotic process, inositol phosphate biosynthetic process, inositol trisphosphate metabolic process, cell surface receptor signaling pathway, signal transduction, myeloid cell homeostasis, regulation of protein phosphorylation, MAPK cascade, 1075 1280 1301 815 1167 1081 882 903 927 ENSG00000143774 chr1 228139962 228148984 + GUK1 protein_coding The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 2987 GO:0005829, GO:0005829, GO:0005829, GO:0001917, cytosol, cytosol, cytosol, photoreceptor inner segment, GO:0005524, GO:0005515, GO:0004385, GO:0004385, GO:0004385, GO:0004385, ATP binding, protein binding, guanylate kinase activity, guanylate kinase activity, guanylate kinase activity, guanylate kinase activity, GO:0046939, GO:0046711, GO:0046060, GO:0046054, GO:0046037, GO:0046034, GO:0034436, GO:0019673, GO:0015949, GO:0006805, GO:0006185, GO:0006163, nucleotide phosphorylation, GDP biosynthetic process, dATP metabolic process, dGMP metabolic process, GMP metabolic process, ATP metabolic process, glycoprotein transport, GDP-mannose metabolic process, nucleobase-containing small molecule interconversion, xenobiotic metabolic process, dGDP biosynthetic process, purine nucleotide metabolic process, 1815 1996 2098 2219 2217 2309 2713 1861 1784 ENSG00000143776 chr1 226989865 227318474 - CDC42BPA protein_coding The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]. 8476 GO:0070062, GO:0042641, GO:0042641, GO:0031252, GO:0030027, GO:0005911, GO:0005856, GO:0005737, extracellular exosome, actomyosin, actomyosin, cell leading edge, lamellipodium, cell-cell junction, cytoskeleton, cytoplasm, GO:0106311, GO:0106310, GO:0042802, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, identical protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0031532, GO:0031032, GO:0031032, GO:0018107, GO:0016477, GO:0006468, intracellular signal transduction, actin cytoskeleton reorganization, actomyosin structure organization, actomyosin structure organization, peptidyl-threonine phosphorylation, cell migration, protein phosphorylation, 2 0 0 0 0 9 5 1 2 ENSG00000143786 chr1 224434660 224740549 + CNIH3 protein_coding 149111 GO:0045211, GO:0045202, GO:0043198, GO:0033116, GO:0032281, GO:0030425, GO:0012507, GO:0005789, GO:0000139, postsynaptic membrane, synapse, dendritic shaft, endoplasmic reticulum-Golgi intermediate compartment membrane, AMPA glutamate receptor complex, dendrite, ER to Golgi transport vesicle membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0016247, GO:0005515, channel regulator activity, protein binding, GO:2000311, GO:2000311, GO:0048208, GO:0042391, GO:0035249, GO:0006888, regulation of AMPA receptor activity, regulation of AMPA receptor activity, COPII vesicle coating, regulation of membrane potential, synaptic transmission, glutamatergic, endoplasmic reticulum to Golgi vesicle-mediated transport, 134 28 28 55 25 16 11 24 14 ENSG00000143793 chr1 228100726 228105411 - C1orf35 protein_coding 79169 GO:1904813, GO:0034774, GO:0005576, ficolin-1-rich granule lumen, secretory granule lumen, extracellular region, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0043312, neutrophil degranulation, 38 38 48 67 61 109 58 54 54 ENSG00000143797 chr2 8852690 9003813 - MBOAT2 protein_coding 129642 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0106263, GO:0106262, GO:0047184, GO:0016746, GO:0003841, 1-acylglycerophosphoserine O-acyltransferase activity, 1-acylglycerophosphoethanolamine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, transferase activity, transferring acyl groups, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0036152, GO:0036152, GO:0036151, GO:0036151, GO:0036150, GO:0032330, GO:0030258, GO:0008654, phosphatidylethanolamine acyl-chain remodeling, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, regulation of chondrocyte differentiation, lipid modification, phospholipid biosynthetic process, 1554 1252 1913 852 1410 1281 1143 1038 1043 ENSG00000143799 chr1 226360691 226408079 - PARP1 protein_coding This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]. 142 GO:0090734, GO:0035861, GO:0032993, GO:0032991, GO:0016604, GO:0016020, GO:0005739, GO:0005730, GO:0005730, GO:0005667, GO:0005654, GO:0005654, GO:0005635, GO:0005634, GO:0000781, site of DNA damage, site of double-strand break, protein-DNA complex, protein-containing complex, nuclear body, membrane, mitochondrion, nucleolus, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, nuclear envelope, nucleus, chromosome, telomeric region, GO:1990404, GO:1990404, GO:0140294, GO:0070412, GO:0051287, GO:0047485, GO:0042826, GO:0042802, GO:0030331, GO:0019901, GO:0019899, GO:0008270, GO:0008134, GO:0005515, GO:0003950, GO:0003950, GO:0003950, GO:0003950, GO:0003723, GO:0003677, protein ADP-ribosylase activity, protein ADP-ribosylase activity, NAD DNA ADP-ribosyltransferase activity, R-SMAD binding, NAD binding, protein N-terminus binding, histone deacetylase binding, identical protein binding, estrogen receptor binding, protein kinase binding, enzyme binding, zinc ion binding, transcription factor binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, RNA binding, DNA binding, GO:2001170, GO:2000679, GO:1990966, GO:1905168, GO:1904762, GO:1904646, GO:1904357, GO:1904044, GO:1903827, GO:1903518, GO:1903376, GO:1901216, GO:1900182, GO:0071294, GO:0070911, GO:0070213, GO:0070212, GO:0070212, GO:0060391, GO:0051901, GO:0050790, GO:0045944, GO:0044030, GO:0043504, GO:0042769, GO:0036211, GO:0034644, GO:0034599, GO:0033683, GO:0033148, GO:0032869, GO:0032042, GO:0030592, GO:0030225, GO:0023019, GO:0018424, GO:0018312, GO:0016540, GO:0010990, GO:0010613, GO:0010332, GO:0007179, GO:0007005, GO:0006974, GO:0006915, GO:0006471, GO:0006471, GO:0006366, GO:0006302, GO:0006302, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006281, GO:0000724, GO:0000723, GO:0000717, GO:0000715, GO:0000122, negative regulation of ATP biosynthetic process, positive regulation of transcription regulatory region DNA binding, ATP generation from poly-ADP-D-ribose, positive regulation of double-strand break repair via homologous recombination, positive regulation of myofibroblast differentiation, cellular response to amyloid-beta, negative regulation of telomere maintenance via telomere lengthening, response to aldosterone, regulation of cellular protein localization, positive regulation of single strand break repair, regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway, positive regulation of neuron death, positive regulation of protein localization to nucleus, cellular response to zinc ion, global genome nucleotide-excision repair, protein auto-ADP-ribosylation, protein poly-ADP-ribosylation, protein poly-ADP-ribosylation, positive regulation of SMAD protein signal transduction, positive regulation of mitochondrial depolarization, regulation of catalytic activity, positive regulation of transcription by RNA polymerase II, regulation of DNA methylation, mitochondrial DNA repair, DNA damage response, detection of DNA damage, protein modification process, cellular response to UV, cellular response to oxidative stress, nucleotide-excision repair, DNA incision, positive regulation of intracellular estrogen receptor signaling pathway, cellular response to insulin stimulus, mitochondrial DNA metabolic process, DNA ADP-ribosylation, macrophage differentiation, signal transduction involved in regulation of gene expression, peptidyl-glutamic acid poly-ADP-ribosylation, peptidyl-serine ADP-ribosylation, protein autoprocessing, regulation of SMAD protein complex assembly, positive regulation of cardiac muscle hypertrophy, response to gamma radiation, transforming growth factor beta receptor signaling pathway, mitochondrion organization, cellular response to DNA damage stimulus, apoptotic process, protein ADP-ribosylation, protein ADP-ribosylation, transcription by RNA polymerase II, double-strand break repair, double-strand break repair, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, DNA repair, double-strand break repair via homologous recombination, telomere maintenance, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, negative regulation of transcription by RNA polymerase II, 133 84 192 289 158 354 246 109 250 ENSG00000143801 chr1 226870184 226896105 + PSEN2 protein_coding Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]. 5664 GO:0097060, GO:0048471, GO:0045121, GO:0043198, GO:0043025, GO:0035253, GO:0032991, GO:0031594, GO:0030426, GO:0030018, GO:0016324, GO:0016020, GO:0009986, GO:0008021, GO:0005938, GO:0005887, GO:0005887, GO:0005886, GO:0005813, GO:0005794, GO:0005789, GO:0005783, GO:0005769, GO:0005765, GO:0005743, GO:0005637, GO:0005634, GO:0000776, GO:0000139, synaptic membrane, perinuclear region of cytoplasm, membrane raft, dendritic shaft, neuronal cell body, ciliary rootlet, protein-containing complex, neuromuscular junction, growth cone, Z disc, apical plasma membrane, membrane, cell surface, synaptic vesicle, cell cortex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, centrosome, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, early endosome, lysosomal membrane, mitochondrial inner membrane, nuclear inner membrane, nucleus, kinetochore, Golgi membrane, GO:0042500, GO:0005515, GO:0004175, aspartic endopeptidase activity, intramembrane cleaving, protein binding, endopeptidase activity, GO:1990456, GO:0110097, GO:0050435, GO:0048013, GO:0043085, GO:0043066, GO:0043065, GO:0042987, GO:0042987, GO:0035556, GO:0035333, GO:0031293, GO:0016485, GO:0007220, GO:0007220, GO:0006816, GO:0006509, GO:0006509, GO:0001666, mitochondrion-endoplasmic reticulum membrane tethering, regulation of calcium import into the mitochondrion, amyloid-beta metabolic process, ephrin receptor signaling pathway, positive regulation of catalytic activity, negative regulation of apoptotic process, positive regulation of apoptotic process, amyloid precursor protein catabolic process, amyloid precursor protein catabolic process, intracellular signal transduction, Notch receptor processing, ligand-dependent, membrane protein intracellular domain proteolysis, protein processing, Notch receptor processing, Notch receptor processing, calcium ion transport, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, response to hypoxia, 7 10 18 5 6 15 2 10 9 ENSG00000143811 chr1 225919877 225924340 - PYCR2 protein_coding This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]. 29920 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005515, GO:0004735, protein binding, pyrroline-5-carboxylate reductase activity, GO:0055129, GO:0055129, GO:0055114, GO:0034599, GO:0008652, GO:0006561, L-proline biosynthetic process, L-proline biosynthetic process, oxidation-reduction process, cellular response to oxidative stress, cellular amino acid biosynthetic process, proline biosynthetic process, 56 68 87 107 73 101 94 82 83 ENSG00000143815 chr1 225401502 225428925 - LBR protein_coding The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 3930 GO:0031965, GO:0016021, GO:0016020, GO:0005789, GO:0005737, GO:0005639, GO:0005637, GO:0005635, GO:0005634, nuclear membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, cytoplasm, integral component of nuclear inner membrane, nuclear inner membrane, nuclear envelope, nucleus, GO:0070402, GO:0070087, GO:0050613, GO:0050613, GO:0050613, GO:0016627, GO:0005521, GO:0005515, GO:0003723, GO:0003677, NADPH binding, chromo shadow domain binding, delta14-sterol reductase activity, delta14-sterol reductase activity, delta14-sterol reductase activity, oxidoreductase activity, acting on the CH-CH group of donors, lamin binding, protein binding, RNA binding, DNA binding, GO:0055114, GO:0030223, GO:0016126, GO:0006695, GO:0006695, GO:0006695, GO:0006695, oxidation-reduction process, neutrophil differentiation, sterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, 4754 3931 5253 1275 2990 2378 1758 2530 2045 ENSG00000143816 chr1 227918656 227947898 - WNT9A protein_coding The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008]. 7483 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0048018, GO:0005515, GO:0005125, GO:0005109, receptor ligand activity, protein binding, cytokine activity, frizzled binding, GO:0072498, GO:0071300, GO:0061303, GO:0061072, GO:0060070, GO:0060070, GO:0048704, GO:0045880, GO:0045597, GO:0045165, GO:0043154, GO:0035115, GO:0032331, GO:0030182, GO:0030182, GO:0016055, GO:0008285, GO:0007275, GO:0007267, GO:0007093, embryonic skeletal joint development, cellular response to retinoic acid, cornea development in camera-type eye, iris morphogenesis, canonical Wnt signaling pathway, canonical Wnt signaling pathway, embryonic skeletal system morphogenesis, positive regulation of smoothened signaling pathway, positive regulation of cell differentiation, cell fate commitment, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, embryonic forelimb morphogenesis, negative regulation of chondrocyte differentiation, neuron differentiation, neuron differentiation, Wnt signaling pathway, negative regulation of cell population proliferation, multicellular organism development, cell-cell signaling, mitotic cell cycle checkpoint, 0 0 0 2 0 0 0 0 8 ENSG00000143819 chr1 225810092 225845563 + EPHX1 protein_coding Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]. 2052 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0033961, GO:0033961, GO:0005515, GO:0004301, cis-stilbene-oxide hydrolase activity, cis-stilbene-oxide hydrolase activity, protein binding, epoxide hydrolase activity, GO:0097176, GO:0019439, GO:0019369, GO:0014070, GO:0009636, GO:0006805, epoxide metabolic process, aromatic compound catabolic process, arachidonic acid metabolic process, response to organic cyclic compound, response to toxic substance, xenobiotic metabolic process, 75 75 116 149 124 224 124 73 150 ENSG00000143839 chr1 204154819 204190324 - REN protein_coding This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [provided by RefSeq, May 2020]. 5972 GO:0045177, GO:0005886, GO:0005737, GO:0005615, GO:0005615, GO:0005576, apical part of cell, plasma membrane, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0008233, GO:0005515, GO:0005159, GO:0005102, GO:0004190, GO:0004190, peptidase activity, protein binding, insulin-like growth factor receptor binding, signaling receptor binding, aspartic-type endopeptidase activity, aspartic-type endopeptidase activity, GO:0070305, GO:0051591, GO:0050435, GO:0048469, GO:0043408, GO:0042756, GO:0035902, GO:0035690, GO:0032496, GO:0009755, GO:0008584, GO:0008217, GO:0006508, GO:0002018, GO:0002003, GO:0002003, GO:0002003, GO:0001823, GO:0001822, response to cGMP, response to cAMP, amyloid-beta metabolic process, cell maturation, regulation of MAPK cascade, drinking behavior, response to immobilization stress, cellular response to drug, response to lipopolysaccharide, hormone-mediated signaling pathway, male gonad development, regulation of blood pressure, proteolysis, renin-angiotensin regulation of aldosterone production, angiotensin maturation, angiotensin maturation, angiotensin maturation, mesonephros development, kidney development, 0 0 0 0 0 0 0 0 0 ENSG00000143842 chr1 204073115 204127743 + SOX13 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]. 9580 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0043565, GO:0042802, GO:0005515, GO:0003714, GO:0003700, GO:0003677, GO:0001217, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, sequence-specific DNA binding, identical protein binding, protein binding, transcription corepressor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0090336, GO:0090090, GO:0045892, GO:0045588, GO:0045165, GO:0042492, GO:0021529, GO:0009653, GO:0006357, GO:0006355, GO:0000122, positive regulation of brown fat cell differentiation, negative regulation of canonical Wnt signaling pathway, negative regulation of transcription, DNA-templated, positive regulation of gamma-delta T cell differentiation, cell fate commitment, gamma-delta T cell differentiation, spinal cord oligodendrocyte cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 12 36 22 34 24 42 18 26 26 ENSG00000143845 chr1 204131062 204152003 - ETNK2 protein_coding The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 55224 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0005524, GO:0005515, GO:0004305, ATP binding, protein binding, ethanolamine kinase activity, GO:0035264, GO:0016310, GO:0009791, GO:0008150, GO:0006646, GO:0006646, GO:0001890, GO:0001701, multicellular organism growth, phosphorylation, post-embryonic development, biological_process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, placenta development, in utero embryonic development, 0 0 3 4 5 10 9 3 3 ENSG00000143847 chr1 203026498 203078740 + PPFIA4 protein_coding PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]. 8497 GO:0048786, GO:0048786, GO:0045202, GO:0009986, GO:0005829, presynaptic active zone, presynaptic active zone, synapse, cell surface, cytosol, GO:0005515, protein binding, GO:0050808, GO:0014047, GO:0007269, synapse organization, glutamate secretion, neurotransmitter secretion, 10 14 13 4 9 18 23 12 13 ENSG00000143850 chr1 204218851 204377665 - PLEKHA6 protein_coding 22874 GO:0005515, protein binding, 1 3 7 10 8 3 1 3 6 ENSG00000143851 chr1 202147013 202161588 - PTPN7 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]. 5778 GO:0009898, GO:0005856, GO:0005829, GO:0005737, GO:0005654, cytoplasmic side of plasma membrane, cytoskeleton, cytosol, cytoplasm, nucleoplasm, GO:0005515, GO:0004725, protein binding, protein tyrosine phosphatase activity, GO:0071345, GO:0035335, GO:0006470, cellular response to cytokine stimulus, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, 427 487 974 740 423 973 641 356 657 ENSG00000143858 chr1 202590596 202710417 - SYT2 protein_coding This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 127833 GO:0070382, GO:0042584, GO:0031045, GO:0030672, GO:0030672, GO:0030665, GO:0030424, GO:0016021, GO:0005886, GO:0005886, exocytic vesicle, chromaffin granule membrane, dense core granule, synaptic vesicle membrane, synaptic vesicle membrane, clathrin-coated vesicle membrane, axon, integral component of membrane, plasma membrane, plasma membrane, GO:0043533, GO:0030276, GO:0019905, GO:0005544, GO:0005544, GO:0005515, GO:0005509, GO:0001786, GO:0000149, inositol 1,3,4,5 tetrakisphosphate binding, clathrin binding, syntaxin binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:1903861, GO:0071277, GO:0061024, GO:0048791, GO:0048488, GO:0017158, GO:0017156, GO:0016192, GO:0014059, positive regulation of dendrite extension, cellular response to calcium ion, membrane organization, calcium ion-regulated exocytosis of neurotransmitter, synaptic vesicle endocytosis, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, 82 82 65 147 309 256 167 199 244 ENSG00000143862 chr1 202133404 202144743 - ARL8A protein_coding 127829 GO:1904115, GO:0101003, GO:0070062, GO:0051233, GO:0045202, GO:0035577, GO:0031902, GO:0030496, GO:0016020, GO:0005886, GO:0005774, GO:0005765, GO:0005765, GO:0005737, axon cytoplasm, ficolin-1-rich granule membrane, extracellular exosome, spindle midzone, synapse, azurophil granule membrane, late endosome membrane, midbody, membrane, plasma membrane, vacuolar membrane, lysosomal membrane, lysosomal membrane, cytoplasm, GO:0048487, GO:0043014, GO:0005525, GO:0005515, GO:0003924, beta-tubulin binding, alpha-tubulin binding, GTP binding, protein binding, GTPase activity, GO:0051301, GO:0043312, GO:0015031, GO:0008089, GO:0007059, GO:0007049, cell division, neutrophil degranulation, protein transport, anterograde axonal transport, chromosome segregation, cell cycle, 896 888 1126 635 907 947 758 751 886 ENSG00000143867 chr2 19351485 19358653 - OSR1 protein_coding 130497 GO:0019898, GO:0005829, GO:0005634, GO:0005634, GO:0000785, extrinsic component of membrane, cytosol, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000650, GO:2000543, GO:1905408, GO:0090094, GO:0072498, GO:0072268, GO:0072259, GO:0072239, GO:0072234, GO:0072208, GO:0072207, GO:0072190, GO:0072184, GO:0072183, GO:0072180, GO:0072169, GO:0072168, GO:0072166, GO:0072162, GO:0072143, GO:0072133, GO:0072111, GO:0072075, GO:0071300, GO:0060272, GO:0060021, GO:0050679, GO:0048863, GO:0048793, GO:0048389, GO:0045944, GO:0043066, GO:0042733, GO:0042476, GO:0042474, GO:0036023, GO:0035116, GO:0035115, GO:0030857, GO:0030501, GO:0030154, GO:0010628, GO:0009790, GO:0008406, GO:0007507, GO:0006357, GO:0002062, GO:0001823, GO:0001657, GO:0001655, GO:0001655, GO:0000122, negative regulation of sodium ion transmembrane transporter activity, positive regulation of gastrulation, negative regulation of creatine transmembrane transporter activity, metanephric cap mesenchymal cell proliferation involved in metanephros development, embryonic skeletal joint development, pattern specification involved in metanephros development, metanephric interstitial fibroblast development, metanephric glomerulus vasculature development, metanephric nephron tubule development, metanephric smooth muscle tissue development, metanephric epithelium development, ureter urothelium development, renal vesicle progenitor cell differentiation, negative regulation of nephron tubule epithelial cell differentiation, mesonephric duct morphogenesis, specification of posterior mesonephric tubule identity, specification of anterior mesonephric tubule identity, posterior mesonephric tubule development, metanephric mesenchymal cell differentiation, mesangial cell development, metanephric mesenchyme morphogenesis, cell proliferation involved in kidney development, metanephric mesenchyme development, cellular response to retinoic acid, embryonic skeletal joint morphogenesis, roof of mouth development, positive regulation of epithelial cell proliferation, stem cell differentiation, pronephros development, intermediate mesoderm development, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, embryonic digit morphogenesis, odontogenesis, middle ear morphogenesis, embryonic skeletal limb joint morphogenesis, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, negative regulation of epithelial cell differentiation, positive regulation of bone mineralization, cell differentiation, positive regulation of gene expression, embryo development, gonad development, heart development, regulation of transcription by RNA polymerase II, chondrocyte differentiation, mesonephros development, ureteric bud development, urogenital system development, urogenital system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000143869 chr2 20666664 20679245 + GDF7 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]. 151449 GO:0005615, extracellular space, GO:0042802, GO:0008083, GO:0005515, GO:0005125, identical protein binding, growth factor activity, protein binding, cytokine activity, GO:2001051, GO:0060571, GO:0060395, GO:0060389, GO:0048853, GO:0048754, GO:0048608, GO:0045893, GO:0045666, GO:0045165, GO:0032924, GO:0030901, GO:0030855, GO:0030509, GO:0030509, GO:0022612, GO:0021527, GO:0021509, GO:0010862, GO:0010862, GO:0007411, positive regulation of tendon cell differentiation, morphogenesis of an epithelial fold, SMAD protein signal transduction, pathway-restricted SMAD protein phosphorylation, forebrain morphogenesis, branching morphogenesis of an epithelial tube, reproductive structure development, positive regulation of transcription, DNA-templated, positive regulation of neuron differentiation, cell fate commitment, activin receptor signaling pathway, midbrain development, epithelial cell differentiation, BMP signaling pathway, BMP signaling pathway, gland morphogenesis, spinal cord association neuron differentiation, roof plate formation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, axon guidance, 2 0 3 5 1 0 8 0 2 ENSG00000143870 chr2 10783391 10837977 - PDIA6 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 10130 GO:0070062, GO:0042470, GO:0034663, GO:0005886, GO:0005829, GO:0005793, GO:0005789, GO:0005788, GO:0005783, GO:0005783, GO:0005615, extracellular exosome, melanosome, endoplasmic reticulum chaperone complex, plasma membrane, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, extracellular space, GO:0015037, GO:0005515, GO:0003756, peptide disulfide oxidoreductase activity, protein binding, protein disulfide isomerase activity, GO:0055114, GO:0044267, GO:0043687, GO:0036498, GO:0006457, oxidation-reduction process, cellular protein metabolic process, post-translational protein modification, IRE1-mediated unfolded protein response, protein folding, 154 153 297 167 113 220 135 100 159 ENSG00000143878 chr2 20447074 20449445 + RHOB protein_coding 388 GO:0070062, GO:0043231, GO:0042995, GO:0032154, GO:0031902, GO:0031410, GO:0010008, GO:0010008, GO:0005938, GO:0005925, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005769, GO:0005634, extracellular exosome, intracellular membrane-bounded organelle, cell projection, cleavage furrow, late endosome membrane, cytoplasmic vesicle, endosome membrane, endosome membrane, cell cortex, focal adhesion, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, early endosome, nucleus, GO:0019901, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, protein kinase binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0071479, GO:0070301, GO:0061154, GO:0051056, GO:0045786, GO:0045766, GO:0043065, GO:0043065, GO:0032956, GO:0030865, GO:0030336, GO:0030334, GO:0030154, GO:0016477, GO:0010595, GO:0008360, GO:0008333, GO:0007266, GO:0007186, GO:0007163, GO:0007155, GO:0007015, GO:0006915, GO:0006886, GO:0001525, GO:0000281, cellular response to ionizing radiation, cellular response to hydrogen peroxide, endothelial tube morphogenesis, regulation of small GTPase mediated signal transduction, negative regulation of cell cycle, positive regulation of angiogenesis, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, negative regulation of cell migration, regulation of cell migration, cell differentiation, cell migration, positive regulation of endothelial cell migration, regulation of cell shape, endosome to lysosome transport, Rho protein signal transduction, G protein-coupled receptor signaling pathway, establishment or maintenance of cell polarity, cell adhesion, actin filament organization, apoptotic process, intracellular protein transport, angiogenesis, mitotic cytokinesis, 6107 7733 10235 1609 4318 2745 1529 3485 2219 ENSG00000143882 chr2 10721100 10785110 + ATP6V1C2 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]. 245973 GO:0070062, GO:0005829, GO:0005765, GO:0000221, extracellular exosome, cytosol, lysosomal membrane, vacuolar proton-transporting V-type ATPase, V1 domain, GO:0046961, GO:0042802, proton-transporting ATPase activity, rotational mechanism, identical protein binding, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0030177, GO:0016241, GO:0008286, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, positive regulation of Wnt signaling pathway, regulation of macroautophagy, insulin receptor signaling pathway, 60 58 90 50 51 100 54 48 61 ENSG00000143889 chr2 38561978 38603586 - HNRNPLL protein_coding HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]. 92906 GO:0016020, GO:0005634, membrane, nucleus, GO:0005515, GO:0003729, GO:0003729, GO:0003723, protein binding, mRNA binding, mRNA binding, RNA binding, GO:0043484, GO:0033120, GO:0033120, GO:0006417, GO:0006397, regulation of RNA splicing, positive regulation of RNA splicing, positive regulation of RNA splicing, regulation of translation, mRNA processing, 258 228 362 252 206 263 230 185 220 ENSG00000143891 chr2 38665910 38741237 + GALM protein_coding This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]. 130589 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0042803, GO:0030246, GO:0004034, GO:0004034, protein homodimerization activity, carbohydrate binding, aldose 1-epimerase activity, aldose 1-epimerase activity, GO:0033499, GO:0006012, GO:0006006, GO:0006006, GO:0005975, galactose catabolic process via UDP-galactose, galactose metabolic process, glucose metabolic process, glucose metabolic process, carbohydrate metabolic process, 32 43 87 102 48 77 44 32 59 ENSG00000143919 chr2 44361950 44772592 + CAMKMT protein_coding This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]. 79823 GO:0032991, GO:0005829, GO:0005794, GO:0005737, GO:0005654, protein-containing complex, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, GO:0031072, GO:0018025, GO:0018025, heat shock protein binding, calmodulin-lysine N-methyltransferase activity, calmodulin-lysine N-methyltransferase activity, GO:0022400, GO:0018022, GO:0007005, GO:0006479, regulation of rhodopsin mediated signaling pathway, peptidyl-lysine methylation, mitochondrion organization, protein methylation, 16 22 31 14 23 29 32 11 30 ENSG00000143921 chr2 43831942 43882987 + ABCG8 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]. 64241 GO:0043235, GO:0043190, GO:0016324, GO:0016324, GO:0005887, GO:0005886, GO:0005886, receptor complex, ATP-binding cassette (ABC) transporter complex, apical plasma membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0120020, GO:0046982, GO:0046872, GO:0042626, GO:0016887, GO:0005524, GO:0005515, cholesterol transfer activity, protein heterodimerization activity, metal ion binding, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, protein binding, GO:0120009, GO:0070328, GO:0055085, GO:0045796, GO:0042632, GO:0042632, GO:0042493, GO:0038183, GO:0033344, GO:0033344, GO:0030299, GO:0015918, GO:0015914, GO:0014850, GO:0010949, GO:0007588, GO:0007584, intermembrane lipid transfer, triglyceride homeostasis, transmembrane transport, negative regulation of intestinal cholesterol absorption, cholesterol homeostasis, cholesterol homeostasis, response to drug, bile acid signaling pathway, cholesterol efflux, cholesterol efflux, intestinal cholesterol absorption, sterol transport, phospholipid transport, response to muscle activity, negative regulation of intestinal phytosterol absorption, excretion, response to nutrient, 0 0 0 0 0 0 0 0 0 ENSG00000143924 chr2 42169350 42332548 + EML4 protein_coding This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]. 27436 GO:0072686, GO:0016020, GO:0005874, GO:0005737, mitotic spindle, membrane, microtubule, cytoplasm, GO:0008017, GO:0003674, microtubule binding, molecular_function, GO:0007017, GO:0000278, GO:0000226, microtubule-based process, mitotic cell cycle, microtubule cytoskeleton organization, 1042 871 1697 966 929 1297 1024 697 1156 ENSG00000143933 chr2 47160082 47176601 - CALM2 protein_coding This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]. 805 GO:1902494, GO:0043209, GO:0034704, GO:0032991, GO:0031982, GO:0030017, GO:0008076, GO:0005886, GO:0005876, GO:0005813, GO:0005737, GO:0005737, GO:0005634, GO:0000922, catalytic complex, myelin sheath, calcium channel complex, protein-containing complex, vesicle, sarcomere, voltage-gated potassium channel complex, plasma membrane, spindle microtubule, centrosome, cytoplasm, cytoplasm, nucleus, spindle pole, GO:0097718, GO:0072542, GO:0044325, GO:0043539, GO:0031997, GO:0031432, GO:0030234, GO:0019904, GO:0019901, GO:0019855, GO:0010856, GO:0008179, GO:0005515, GO:0005509, GO:0005509, disordered domain specific binding, protein phosphatase activator activity, ion channel binding, protein serine/threonine kinase activator activity, N-terminal myristoylation domain binding, titin binding, enzyme regulator activity, protein domain specific binding, protein kinase binding, calcium channel inhibitor activity, adenylate cyclase activator activity, adenylate cyclase binding, protein binding, calcium ion binding, calcium ion binding, GO:1901844, GO:0071902, GO:0060316, GO:0060315, GO:0055117, GO:0051592, GO:0051343, GO:0043388, GO:0035307, GO:0032516, GO:0032465, GO:0031954, GO:0021762, GO:0019722, GO:0010881, GO:0010880, GO:0010801, GO:0010800, GO:0007186, GO:0005513, GO:0002027, GO:0000226, GO:0000086, regulation of cell communication by electrical coupling involved in cardiac conduction, positive regulation of protein serine/threonine kinase activity, positive regulation of ryanodine-sensitive calcium-release channel activity, negative regulation of ryanodine-sensitive calcium-release channel activity, regulation of cardiac muscle contraction, response to calcium ion, positive regulation of cyclic-nucleotide phosphodiesterase activity, positive regulation of DNA binding, positive regulation of protein dephosphorylation, positive regulation of phosphoprotein phosphatase activity, regulation of cytokinesis, positive regulation of protein autophosphorylation, substantia nigra development, calcium-mediated signaling, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, negative regulation of peptidyl-threonine phosphorylation, positive regulation of peptidyl-threonine phosphorylation, G protein-coupled receptor signaling pathway, detection of calcium ion, regulation of heart rate, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 3797 3174 3513 1560 2646 1989 1765 2289 1606 ENSG00000143942 chr2 53767792 53775196 + CHAC2 protein_coding The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016]. 494143 GO:0005829, GO:0005737, GO:0005575, cytosol, cytoplasm, cellular_component, GO:0061928, GO:0003839, GO:0003674, glutathione specific gamma-glutamylcyclotransferase activity, gamma-glutamylcyclotransferase activity, molecular_function, GO:0008150, GO:0006751, GO:0006750, biological_process, glutathione catabolic process, glutathione biosynthetic process, 16 17 25 12 18 26 5 11 23 ENSG00000143947 chr2 55231903 55235853 + RPS27A protein_coding Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]. 6233 GO:0070062, GO:0043657, GO:0031982, GO:0030666, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0010008, GO:0005886, GO:0005829, GO:0005789, GO:0005741, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005615, extracellular exosome, host cell, vesicle, endocytic vesicle membrane, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, endosome membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, mitochondrial outer membrane, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, extracellular space, GO:0046872, GO:0031625, GO:0031386, GO:0005515, GO:0003735, GO:0003723, metal ion binding, ubiquitin protein ligase binding, protein tag, protein binding, structural constituent of ribosome, RNA binding, GO:0075733, GO:0070987, GO:0070911, GO:0070498, GO:0070423, GO:0061418, GO:0061024, GO:0055085, GO:0051403, GO:0051092, GO:0045944, GO:0044267, GO:0043488, GO:0043066, GO:0043065, GO:0042769, GO:0042276, GO:0036297, GO:0035666, GO:0033683, GO:0031145, GO:0030512, GO:0019985, GO:0019941, GO:0019221, GO:0019083, GO:0019068, GO:0019058, GO:0016579, GO:0016567, GO:0016567, GO:0016197, GO:0016055, GO:0007254, GO:0007249, GO:0007179, GO:0006625, GO:0006614, GO:0006413, GO:0006412, GO:0006297, GO:0006296, GO:0006294, GO:0006283, GO:0002756, GO:0002755, GO:0000717, GO:0000715, GO:0000209, GO:0000187, GO:0000184, GO:0000122, intracellular transport of virus, error-free translesion synthesis, global genome nucleotide-excision repair, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, membrane organization, transmembrane transport, stress-activated MAPK cascade, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription by RNA polymerase II, cellular protein metabolic process, regulation of mRNA stability, negative regulation of apoptotic process, positive regulation of apoptotic process, DNA damage response, detection of DNA damage, error-prone translesion synthesis, interstrand cross-link repair, TRIF-dependent toll-like receptor signaling pathway, nucleotide-excision repair, DNA incision, anaphase-promoting complex-dependent catabolic process, negative regulation of transforming growth factor beta receptor signaling pathway, translesion synthesis, modification-dependent protein catabolic process, cytokine-mediated signaling pathway, viral transcription, virion assembly, viral life cycle, protein deubiquitination, protein ubiquitination, protein ubiquitination, endosomal transport, Wnt signaling pathway, JNK cascade, I-kappaB kinase/NF-kappaB signaling, transforming growth factor beta receptor signaling pathway, protein targeting to peroxisome, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, preincision complex assembly, transcription-coupled nucleotide-excision repair, MyD88-independent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, protein polyubiquitination, activation of MAPK activity, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, negative regulation of transcription by RNA polymerase II, 1142 699 1400 2207 1063 2297 1455 1052 1759 ENSG00000143951 chr2 63121383 63827843 - WDPCP protein_coding This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 51057 GO:0097541, GO:0097541, GO:0016324, GO:0005938, GO:0005930, GO:0005886, axonemal basal plate, axonemal basal plate, apical plasma membrane, cell cortex, axoneme, plasma membrane, GO:2000114, GO:1900027, GO:0090521, GO:0060541, GO:0060271, GO:0060021, GO:0055123, GO:0051893, GO:0045184, GO:0044782, GO:0043587, GO:0043010, GO:0042733, GO:0032880, GO:0032185, GO:0016476, GO:0010762, GO:0007399, GO:0007224, GO:0002093, GO:0001822, regulation of establishment of cell polarity, regulation of ruffle assembly, glomerular visceral epithelial cell migration, respiratory system development, cilium assembly, roof of mouth development, digestive system development, regulation of focal adhesion assembly, establishment of protein localization, cilium organization, tongue morphogenesis, camera-type eye development, embryonic digit morphogenesis, regulation of protein localization, septin cytoskeleton organization, regulation of embryonic cell shape, regulation of fibroblast migration, nervous system development, smoothened signaling pathway, auditory receptor cell morphogenesis, kidney development, 10 9 21 27 32 28 19 14 14 ENSG00000143952 chr2 63892146 64019072 - VPS54 protein_coding This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]. 51542 GO:0048471, GO:0032588, GO:0016020, GO:0005829, GO:0005802, GO:0005802, GO:0005794, GO:0005654, GO:0000938, GO:0000938, perinuclear region of cytoplasm, trans-Golgi network membrane, membrane, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, nucleoplasm, GARP complex, GARP complex, GO:0019905, GO:0005515, syntaxin binding, protein binding, GO:0060052, GO:0050881, GO:0048873, GO:0042147, GO:0042147, GO:0040008, GO:0015031, GO:0007041, GO:0006896, neurofilament cytoskeleton organization, musculoskeletal movement, homeostasis of number of cells within a tissue, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, regulation of growth, protein transport, lysosomal transport, Golgi to vacuole transport, 142 138 128 120 138 158 122 111 124 ENSG00000143954 chr2 79025686 79028505 + REG3G protein_coding This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antimicrobial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Nov 2014]. 130120 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0070492, GO:0070492, GO:0042834, GO:0042834, GO:0038023, oligosaccharide binding, oligosaccharide binding, peptidoglycan binding, peptidoglycan binding, signaling receptor activity, GO:0090303, GO:0061844, GO:0061844, GO:0051838, GO:0050830, GO:0045617, GO:0044278, GO:0044278, GO:0043434, GO:0019730, GO:0010838, GO:0008284, GO:0006953, GO:0002755, positive regulation of wound healing, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, cytolysis by host of symbiont cells, defense response to Gram-positive bacterium, negative regulation of keratinocyte differentiation, cell wall disruption in other organism, cell wall disruption in other organism, response to peptide hormone, antimicrobial humoral response, positive regulation of keratinocyte proliferation, positive regulation of cell population proliferation, acute-phase response, MyD88-dependent toll-like receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000143970 chr2 25733753 25878516 - ASXL2 protein_coding This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]. 55252 GO:0035517, GO:0005654, GO:0005654, PR-DUB complex, nucleoplasm, nucleoplasm, GO:0046872, GO:0042975, GO:0042975, GO:0003682, GO:0003677, metal ion binding, peroxisome proliferator activated receptor binding, peroxisome proliferator activated receptor binding, chromatin binding, DNA binding, GO:0045944, GO:0045944, GO:0045600, GO:0035360, GO:0016579, GO:0010884, GO:0009887, GO:0006351, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of fat cell differentiation, positive regulation of peroxisome proliferator activated receptor signaling pathway, protein deubiquitination, positive regulation of lipid storage, animal organ morphogenesis, transcription, DNA-templated, 986 1007 1017 579 988 978 794 679 726 ENSG00000143971 chr2 67397319 67412089 + ETAA1 protein_coding 54465 GO:0043596, GO:0043596, nuclear replication fork, nuclear replication fork, GO:0043539, GO:0043539, GO:0005515, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, protein binding, GO:2000001, GO:2000001, GO:0071902, GO:0071902, GO:0031297, GO:0031297, GO:0006974, GO:0006974, GO:0006281, regulation of DNA damage checkpoint, regulation of DNA damage checkpoint, positive regulation of protein serine/threonine kinase activity, positive regulation of protein serine/threonine kinase activity, replication fork processing, replication fork processing, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, DNA repair, 12 15 26 37 13 38 24 10 25 ENSG00000143977 chr2 70281362 70293771 - SNRPG protein_coding The protein encoded by this gene is a component of the U1, U2, U4, and U5 small nuclear ribonucleoprotein complexes, precursors of the spliceosome. The encoded protein may also be a part of the U7 small nuclear ribonucleoprotein complex, which participates in the processing of the 3' end of histone transcripts. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 6637 GO:1990904, GO:0097526, GO:0071013, GO:0071013, GO:0071011, GO:0071007, GO:0071005, GO:0071004, GO:0046540, GO:0043186, GO:0034719, GO:0034719, GO:0034709, GO:0030532, GO:0005829, GO:0005829, GO:0005689, GO:0005689, GO:0005687, GO:0005687, GO:0005686, GO:0005685, GO:0005685, GO:0005683, GO:0005682, GO:0005681, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, spliceosomal tri-snRNP complex, catalytic step 2 spliceosome, catalytic step 2 spliceosome, precatalytic spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U2-type prespliceosome, U4/U6 x U5 tri-snRNP complex, P granule, SMN-Sm protein complex, SMN-Sm protein complex, methylosome, small nuclear ribonucleoprotein complex, cytosol, cytosol, U12-type spliceosomal complex, U12-type spliceosomal complex, U4 snRNP, U4 snRNP, U2 snRNP, U1 snRNP, U1 snRNP, U7 snRNP, U5 snRNP, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0051170, GO:0008380, GO:0008334, GO:0006369, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000387, GO:0000387, GO:0000245, import into nucleus, RNA splicing, histone mRNA metabolic process, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal complex assembly, 172 130 155 166 154 222 138 134 107 ENSG00000143994 chr2 27123789 27130812 + ABHD1 protein_coding This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]. 84696 GO:0016021, integral component of membrane, GO:0047372, GO:0034338, GO:0008126, GO:0005515, GO:0003674, acylglycerol lipase activity, short-chain carboxylesterase activity, acetylesterase activity, protein binding, molecular_function, GO:0051793, GO:0051792, GO:0044255, GO:0008150, medium-chain fatty acid catabolic process, medium-chain fatty acid biosynthetic process, cellular lipid metabolic process, biological_process, 4 3 0 5 4 22 5 7 12 ENSG00000143995 chr2 66433452 66573869 + MEIS1 protein_coding Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. [provided by RefSeq, Jul 2008]. 4211 GO:0005667, GO:0000785, GO:0000785, transcription regulator complex, chromatin, chromatin, GO:0005515, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, protein binding, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060216, GO:0060044, GO:0045944, GO:0045665, GO:0045638, GO:0035855, GO:0030097, GO:0009887, GO:0009880, GO:0008284, GO:0007626, GO:0007420, GO:0006357, GO:0002089, GO:0001654, GO:0001525, definitive hemopoiesis, negative regulation of cardiac muscle cell proliferation, positive regulation of transcription by RNA polymerase II, negative regulation of neuron differentiation, negative regulation of myeloid cell differentiation, megakaryocyte development, hemopoiesis, animal organ morphogenesis, embryonic pattern specification, positive regulation of cell population proliferation, locomotory behavior, brain development, regulation of transcription by RNA polymerase II, lens morphogenesis in camera-type eye, eye development, angiogenesis, 7 4 2 7 0 4 3 7 3 ENSG00000144010 chr2 95476967 95484731 - TRIM43B protein_coding 653192 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000144015 chr2 95592018 95599778 + TRIM43 protein_coding 129868 GO:0005737, cytoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 1 0 0 0 0 0 ENSG00000144021 chr2 96266132 96273349 + CIAO1 protein_coding 9391 GO:0097361, GO:0097361, GO:0071817, GO:0005737, CIA complex, CIA complex, MMXD complex, cytoplasm, GO:0005515, protein binding, GO:0097428, GO:0016226, GO:0016226, GO:0016226, GO:0008284, GO:0007059, GO:0006357, protein maturation by iron-sulfur cluster transfer, iron-sulfur cluster assembly, iron-sulfur cluster assembly, iron-sulfur cluster assembly, positive regulation of cell population proliferation, chromosome segregation, regulation of transcription by RNA polymerase II, 420 489 511 454 576 469 393 354 371 ENSG00000144026 chr2 95147330 95165413 - ZNF514 protein_coding 84874 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 11 12 26 39 20 73 43 11 26 ENSG00000144028 chr2 96274336 96305515 - SNRNP200 protein_coding Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]. 23020 GO:0071013, GO:0071006, GO:0071005, GO:0046540, GO:0016020, GO:0005682, GO:0005681, GO:0005681, GO:0005654, GO:0005654, GO:0005634, catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, membrane, U5 snRNP, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0005524, GO:0005515, GO:0004386, GO:0003724, GO:0003724, GO:0003723, GO:0003723, identical protein binding, ATP binding, protein binding, helicase activity, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, GO:0001649, GO:0000398, GO:0000398, GO:0000398, GO:0000388, GO:0000354, osteoblast differentiation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosome conformational change to release U4 (or U4atac) and U1 (or U11), cis assembly of pre-catalytic spliceosome, 1170 1601 1926 1077 1589 1619 1152 1226 1316 ENSG00000144029 chr2 95087207 95149434 - MRPS5 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]. 64969 GO:0005763, GO:0005763, GO:0005743, GO:0005739, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 69 68 102 111 91 120 124 76 113 ENSG00000144031 chr2 70978380 70985499 + ANKRD53 protein_coding 79998 GO:0005819, GO:0005737, GO:0000922, GO:0000922, spindle, cytoplasm, spindle pole, spindle pole, GO:0005515, protein binding, GO:1902412, GO:1902412, GO:0060236, GO:0060236, GO:0051301, GO:0031116, GO:0031116, GO:0007080, GO:0007080, regulation of mitotic cytokinesis, regulation of mitotic cytokinesis, regulation of mitotic spindle organization, regulation of mitotic spindle organization, cell division, positive regulation of microtubule polymerization, positive regulation of microtubule polymerization, mitotic metaphase plate congression, mitotic metaphase plate congression, 2 0 3 1 1 0 0 0 0 ENSG00000144034 chr2 73729104 73737400 - TPRKB protein_coding 51002 GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0000408, GO:0000408, cytosol, cytosol, cytoplasm, nucleus, nucleus, EKC/KEOPS complex, EKC/KEOPS complex, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0002949, GO:0002949, GO:0000722, tRNA threonylcarbamoyladenosine modification, tRNA threonylcarbamoyladenosine modification, telomere maintenance via recombination, 41 37 44 46 82 59 41 58 67 ENSG00000144035 chr2 73640832 73642393 - NAT8 protein_coding This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]. 9027 GO:0033116, GO:0016021, GO:0005793, GO:0005789, GO:0005789, GO:0005783, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0047198, GO:0008080, GO:0005515, GO:0004468, cysteine-S-conjugate N-acetyltransferase activity, N-acetyltransferase activity, protein binding, lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, GO:0050435, GO:0044267, GO:0043066, GO:0042493, GO:0018003, GO:0010628, GO:0006749, GO:0006749, amyloid-beta metabolic process, cellular protein metabolic process, negative regulation of apoptotic process, response to drug, peptidyl-lysine N6-acetylation, positive regulation of gene expression, glutathione metabolic process, glutathione metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000144036 chr2 72175984 72826041 - EXOC6B protein_coding This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]. 23233 GO:0016020, GO:0000145, membrane, exocyst, GO:0005515, protein binding, GO:0015031, GO:0006904, GO:0006893, GO:0006887, protein transport, vesicle docking involved in exocytosis, Golgi to plasma membrane transport, exocytosis, 18 3 24 38 16 55 31 17 22 ENSG00000144040 chr2 72942036 73075619 - SFXN5 protein_coding 94097 GO:0031305, GO:0005739, integral component of mitochondrial inner membrane, mitochondrion, GO:0022857, GO:0015137, GO:0005515, transmembrane transporter activity, citrate transmembrane transporter activity, protein binding, GO:1990542, GO:0034220, GO:0015746, GO:0006865, mitochondrial transmembrane transport, ion transmembrane transport, citrate transport, amino acid transport, 235 232 258 108 196 185 158 151 161 ENSG00000144043 chr2 70985938 70994945 - TEX261 protein_coding 113419 GO:0030176, GO:0030173, GO:0030134, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, COPII-coated ER to Golgi transport vesicle, GO:0097020, COPII receptor activity, GO:0006897, GO:0006888, endocytosis, endoplasmic reticulum to Golgi vesicle-mediated transport, 199 256 294 113 169 185 153 163 147 ENSG00000144045 chr2 74518131 74526336 - DQX1 protein_coding 165545 GO:0005681, GO:0005622, spliceosomal complex, intracellular anatomical structure, GO:0005524, GO:0003723, GO:0003678, ATP binding, RNA binding, DNA helicase activity, GO:0032508, DNA duplex unwinding, 0 1 0 0 0 0 0 0 0 ENSG00000144048 chr2 73762184 73780157 - DUSP11 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 2008]. 8446 GO:0045171, GO:0016607, GO:0005654, GO:0005634, GO:0001650, intercellular bridge, nuclear speck, nucleoplasm, nucleus, fibrillar center, GO:0098519, GO:0016791, GO:0008138, GO:0004725, GO:0004651, GO:0004651, GO:0003723, GO:0003723, nucleotide phosphatase activity, acting on free nucleotides, phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein tyrosine phosphatase activity, polynucleotide 5'-phosphatase activity, polynucleotide 5'-phosphatase activity, RNA binding, RNA binding, GO:0098507, GO:0035335, GO:0016070, GO:0006470, GO:0006396, polynucleotide 5' dephosphorylation, peptidyl-tyrosine dephosphorylation, RNA metabolic process, protein dephosphorylation, RNA processing, 177 198 196 126 180 152 94 171 76 ENSG00000144057 chr2 106801600 106887108 - ST6GAL2 protein_coding This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]. 84620 GO:0032580, GO:0016021, GO:0000139, Golgi cisterna membrane, integral component of membrane, Golgi membrane, GO:0003835, GO:0003835, beta-galactoside alpha-2,6-sialyltransferase activity, beta-galactoside alpha-2,6-sialyltransferase activity, GO:0097503, GO:0009311, GO:0006486, sialylation, oligosaccharide metabolic process, protein glycosylation, 0 0 0 1 0 0 0 0 0 ENSG00000144061 chr2 110122311 110205066 - NPHP1 protein_coding This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 4867 GO:0032391, GO:0031514, GO:0016020, GO:0005929, GO:0005923, GO:0005912, GO:0005911, GO:0005856, GO:0005829, GO:0005737, photoreceptor connecting cilium, motile cilium, membrane, cilium, bicellular tight junction, adherens junction, cell-cell junction, cytoskeleton, cytosol, cytoplasm, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:1903348, GO:0098609, GO:0097711, GO:0090251, GO:0060041, GO:0048515, GO:0030036, GO:0030030, GO:0007632, GO:0007588, GO:0007165, positive regulation of bicellular tight junction assembly, cell-cell adhesion, ciliary basal body-plasma membrane docking, protein localization involved in establishment of planar polarity, retina development in camera-type eye, spermatid differentiation, actin cytoskeleton organization, cell projection organization, visual behavior, excretion, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000144063 chr2 110083870 110116566 - MALL protein_coding This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008]. 7851 GO:0045121, GO:0031410, GO:0030136, GO:0016021, GO:0005886, GO:0000139, membrane raft, cytoplasmic vesicle, clathrin-coated vesicle, integral component of membrane, plasma membrane, Golgi membrane, GO:0019911, GO:0005515, structural constituent of myelin sheath, protein binding, GO:0042632, GO:0042552, cholesterol homeostasis, myelination, 0 0 0 0 0 0 0 0 0 ENSG00000144115 chr2 88170295 88186636 + THNSL2 protein_coding This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 55258 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0070905, GO:0030170, GO:0030170, GO:0005125, GO:0004795, GO:0003674, serine binding, pyridoxal phosphate binding, pyridoxal phosphate binding, cytokine activity, threonine synthase activity, molecular_function, GO:0046360, GO:0046360, GO:0016311, GO:0016311, GO:0009071, GO:0009071, GO:0008150, GO:0007165, 2-oxobutyrate biosynthetic process, 2-oxobutyrate biosynthetic process, dephosphorylation, dephosphorylation, serine family amino acid catabolic process, serine family amino acid catabolic process, biological_process, signal transduction, 29 44 10 9 49 8 15 46 6 ENSG00000144118 chr2 120240064 120294713 + RALB protein_coding This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq, Jul 2008]. 5899 GO:0070062, GO:0030496, GO:0005886, GO:0005886, extracellular exosome, midbody, plasma membrane, plasma membrane, GO:0051117, GO:0031625, GO:0019003, GO:0019003, GO:0005525, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, ATPase binding, ubiquitin protein ligase binding, GDP binding, GDP binding, GTP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:2000786, GO:0071902, GO:0071360, GO:0060178, GO:0051301, GO:0032092, GO:0032091, GO:0009267, GO:0007265, GO:0007165, GO:0007049, GO:0006915, GO:0001934, GO:0001928, positive regulation of autophagosome assembly, positive regulation of protein serine/threonine kinase activity, cellular response to exogenous dsRNA, regulation of exocyst localization, cell division, positive regulation of protein binding, negative regulation of protein binding, cellular response to starvation, Ras protein signal transduction, signal transduction, cell cycle, apoptotic process, positive regulation of protein phosphorylation, regulation of exocyst assembly, 2700 2892 4498 846 2630 1873 1117 2409 1773 ENSG00000144119 chr2 119156243 119158889 - C1QL2 protein_coding 165257 GO:0005581, GO:0005576, collagen trimer, extracellular region, GO:0042802, identical protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000144120 chr2 119679167 119686507 + TMEM177 protein_coding 80775 GO:0031305, integral component of mitochondrial inner membrane, GO:0005515, protein binding, 2 1 3 4 0 12 1 0 0 ENSG00000144130 chr2 112721486 112742879 + NT5DC4 protein_coding 284958 GO:0046872, GO:0008253, metal ion binding, 5'-nucleotidase activity, GO:0016311, dephosphorylation, 28 20 59 54 31 64 55 17 44 ENSG00000144134 chr2 113627229 113643396 + RABL2A protein_coding This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 11159 GO:0012505, endomembrane system, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0006886, intracellular protein transport, 39 40 44 82 89 78 79 69 31 ENSG00000144136 chr2 112645857 112663827 + SLC20A1 protein_coding The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]. 6574 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005436, GO:0005316, GO:0005315, signaling receptor activity, sodium:phosphate symporter activity, high-affinity inorganic phosphate:sodium symporter activity, inorganic phosphate transmembrane transporter activity, GO:0043123, GO:0035725, GO:0035435, GO:0031214, GO:0016032, GO:0006811, GO:0006796, positive regulation of I-kappaB kinase/NF-kappaB signaling, sodium ion transmembrane transport, phosphate ion transmembrane transport, biomineral tissue development, viral process, ion transport, phosphate-containing compound metabolic process, 954 1162 1812 7847 8146 7783 7910 5667 5014 ENSG00000144152 chr2 112138385 112188216 + FBLN7 protein_coding 129804 GO:0005925, GO:0005576, focal adhesion, extracellular region, GO:0008201, GO:0005509, heparin binding, calcium ion binding, GO:0007155, cell adhesion, 10 2 5 8 5 5 26 8 7 ENSG00000144158 chr2 113657908 113658675 + AL078621.1 processed_pseudogene 0 17 8 23 10 6 2 9 11 ENSG00000144161 chr2 112211525 112255136 - ZC3H8 protein_coding 84524 GO:0035363, GO:0035327, GO:0016604, GO:0015030, GO:0008023, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, histone locus body, transcriptionally active chromatin, nuclear body, Cajal body, transcription elongation factor complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003723, GO:0001227, GO:0001162, GO:0000981, metal ion binding, protein binding, RNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0070245, GO:0046677, GO:0045945, GO:0045892, GO:0045892, GO:0043029, GO:0042796, GO:0042795, GO:0042795, GO:0033085, GO:0006915, GO:0000122, positive regulation of thymocyte apoptotic process, response to antibiotic, positive regulation of transcription by RNA polymerase III, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, T cell homeostasis, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, negative regulation of T cell differentiation in thymus, apoptotic process, negative regulation of transcription by RNA polymerase II, 30 24 33 84 25 55 34 21 46 ENSG00000144182 chr2 99154955 99163157 + LIPT1 protein_coding The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]. 51601 GO:0005759, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrion, cytoplasm, GO:0017118, GO:0016979, GO:0016746, GO:0005515, lipoyltransferase activity, lipoate-protein ligase activity, transferase activity, transferring acyl groups, protein binding, GO:0034641, GO:0009249, GO:0006629, GO:0006464, cellular nitrogen compound metabolic process, protein lipoylation, lipid metabolic process, cellular protein modification process, 56 16 54 81 60 69 93 45 66 ENSG00000144188 chr2 97025981 97031636 - TRIM43CP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000144191 chr2 98346155 98398601 + CNGA3 protein_coding This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 1261 GO:1902495, GO:0097386, GO:0043204, GO:0043194, GO:0030425, GO:0005886, GO:0005737, transmembrane transporter complex, glial cell projection, perikaryon, axon initial segment, dendrite, plasma membrane, cytoplasm, GO:0030553, GO:0030553, GO:0015276, GO:0008022, GO:0005515, GO:0005223, GO:0005223, GO:0005222, cGMP binding, cGMP binding, ligand-gated ion channel activity, protein C-terminus binding, protein binding, intracellular cGMP-activated cation channel activity, intracellular cGMP-activated cation channel activity, intracellular cAMP-activated cation channel activity, GO:0098659, GO:0051591, GO:0032026, GO:0031960, GO:0007601, GO:0007165, GO:0006812, inorganic cation import across plasma membrane, response to cAMP, response to magnesium ion, response to corticosteroid, visual perception, signal transduction, cation transport, 0 0 0 0 0 0 0 0 0 ENSG00000144199 chr2 97083583 97094882 - FAHD2B protein_coding 151313 GO:0046872, GO:0016836, GO:0016787, metal ion binding, hydro-lyase activity, hydrolase activity, 8 7 17 19 7 12 18 13 19 ENSG00000144214 chr2 99284238 99304742 - LYG1 protein_coding 129530 GO:0005576, extracellular region, GO:0005515, GO:0003796, protein binding, lysozyme activity, GO:0050830, GO:0016998, GO:0009253, defense response to Gram-positive bacterium, cell wall macromolecule catabolic process, peptidoglycan catabolic process, 4 9 5 15 17 6 16 14 14 ENSG00000144218 chr2 99545419 100142739 - AFF3 protein_coding This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]. 3899 GO:0032783, GO:0016604, GO:0005829, GO:0005654, GO:0005634, super elongation complex, nuclear body, cytosol, nucleoplasm, nucleus, GO:0003677, DNA binding, GO:0035116, GO:0034612, GO:0010468, embryonic hindlimb morphogenesis, response to tumor necrosis factor, regulation of gene expression, 5 18 25 36 19 31 29 23 12 ENSG00000144224 chr2 135741619 135785055 + UBXN4 protein_coding UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]. 23190 GO:0005829, GO:0005789, GO:0005783, GO:0005635, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear envelope, GO:0005515, protein binding, GO:0030433, GO:0006986, ubiquitin-dependent ERAD pathway, response to unfolded protein, 2857 2576 3504 2367 2725 3257 2709 1859 2386 ENSG00000144227 chr2 138670772 138780348 - NXPH2 protein_coding 11249 GO:0005576, extracellular region, GO:0005102, GO:0003674, signaling receptor binding, molecular_function, GO:0007218, neuropeptide signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000144228 chr2 138501801 138573547 + SPOPL protein_coding 339745 GO:0031463, GO:0005737, GO:0005634, Cul3-RING ubiquitin ligase complex, cytoplasm, nucleus, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0043161, GO:0043161, GO:0031397, GO:0030162, GO:0016567, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, regulation of proteolysis, protein ubiquitination, 2202 2097 2728 1164 2234 1792 1440 1785 1602 ENSG00000144229 chr2 136765545 137677717 + THSD7B protein_coding 80731 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0031532, actin cytoskeleton reorganization, 0 0 0 0 0 0 0 0 0 ENSG00000144230 chr2 127645864 127652639 + GPR17 protein_coding 2840 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0033612, GO:0004950, GO:0004930, receptor serine/threonine kinase binding, chemokine receptor activity, G protein-coupled receptor activity, GO:0070098, GO:0051482, GO:0048709, GO:0035025, GO:0007186, GO:0002862, chemokine-mediated signaling pathway, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, oligodendrocyte differentiation, positive regulation of Rho protein signal transduction, G protein-coupled receptor signaling pathway, negative regulation of inflammatory response to antigenic stimulus, 3 14 3 10 24 11 12 12 19 ENSG00000144231 chr2 127843551 127858157 - POLR2D protein_coding This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008]. 5433 GO:0016607, GO:0005829, GO:0005665, GO:0005665, GO:0005654, GO:0005654, GO:0005634, GO:0000932, nuclear speck, cytosol, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleoplasm, nucleus, P-body, GO:0031369, GO:0005515, GO:0003899, GO:0003899, GO:0003727, GO:0003697, GO:0000166, translation initiation factor binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA-directed 5'-3' RNA polymerase activity, single-stranded RNA binding, single-stranded DNA binding, nucleotide binding, GO:0060964, GO:0050434, GO:0045948, GO:0042795, GO:0035019, GO:0034402, GO:0031990, GO:0016070, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006351, GO:0006283, GO:0000398, GO:0000288, regulation of gene silencing by miRNA, positive regulation of viral transcription, positive regulation of translational initiation, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex, mRNA export from nucleus in response to heat stress, RNA metabolic process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, 48 39 71 50 37 82 26 45 38 ENSG00000144233 chr2 127861630 127885922 - AMMECR1L protein_coding 83607 GO:0005634, nucleus, 276 211 330 253 253 341 280 170 209 ENSG00000144278 chr2 153871913 154453849 + GALNT13 protein_coding The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]. 114805 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0018243, GO:0018242, GO:0016266, protein O-linked glycosylation via threonine, protein O-linked glycosylation via serine, O-glycan processing, 0 0 0 0 0 0 0 0 0 ENSG00000144283 chr2 158456964 158682879 + PKP4 protein_coding Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]. 8502 GO:0072686, GO:0051233, GO:0048471, GO:0044291, GO:0030496, GO:0030496, GO:0030057, GO:0030054, GO:0014069, GO:0009898, GO:0005912, GO:0005911, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005737, GO:0005737, GO:0005634, GO:0001533, GO:0000922, mitotic spindle, spindle midzone, perinuclear region of cytoplasm, cell-cell contact zone, midbody, midbody, desmosome, cell junction, postsynaptic density, cytoplasmic side of plasma membrane, adherens junction, cell-cell junction, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytoplasm, cytoplasm, nucleus, cornified envelope, spindle pole, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0098609, GO:0070268, GO:0043547, GO:0032467, GO:0031424, GO:0030155, GO:0007267, GO:0007043, GO:0007043, cell-cell adhesion, cornification, positive regulation of GTPase activity, positive regulation of cytokinesis, keratinization, regulation of cell adhesion, cell-cell signaling, cell-cell junction assembly, cell-cell junction assembly, 272 309 301 150 248 213 214 201 224 ENSG00000144285 chr2 165984641 166149214 - SCN1A protein_coding Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]. 6323 GO:0030424, GO:0030018, GO:0016604, GO:0005886, GO:0005654, GO:0001518, axon, Z disc, nuclear body, plasma membrane, nucleoplasm, voltage-gated sodium channel complex, GO:0005248, GO:0005248, GO:0005248, GO:0005244, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0086010, GO:0086002, GO:0050966, GO:0035725, GO:0034765, GO:0019228, GO:0006814, GO:0006814, membrane depolarization during action potential, cardiac muscle cell action potential involved in contraction, detection of mechanical stimulus involved in sensory perception of pain, sodium ion transmembrane transport, regulation of ion transmembrane transport, neuronal action potential, sodium ion transport, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000144290 chr2 161424332 161985282 + SLC4A10 protein_coding This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]. 57282 GO:0098794, GO:0097442, GO:0097441, GO:0097440, GO:0045202, GO:0043679, GO:0043204, GO:0043025, GO:0036477, GO:0030425, GO:0016324, GO:0016323, GO:0016323, GO:0016021, GO:0005886, GO:0005886, postsynapse, CA3 pyramidal cell dendrite, basal dendrite, apical dendrite, synapse, axon terminus, perikaryon, neuronal cell body, somatodendritic compartment, dendrite, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0022857, GO:0015301, GO:0008510, GO:0008510, GO:0008510, GO:0005452, transmembrane transporter activity, anion:anion antiporter activity, sodium:bicarbonate symporter activity, sodium:bicarbonate symporter activity, sodium:bicarbonate symporter activity, inorganic anion exchanger activity, GO:1902600, GO:0098656, GO:0055085, GO:0051453, GO:0050801, GO:0048854, GO:0048172, GO:0035725, GO:0035641, GO:0035264, GO:0021860, GO:0015701, GO:0015701, GO:0015701, GO:0009791, GO:0009416, GO:0007601, GO:0006821, proton transmembrane transport, anion transmembrane transport, transmembrane transport, regulation of intracellular pH, ion homeostasis, brain morphogenesis, regulation of short-term neuronal synaptic plasticity, sodium ion transmembrane transport, locomotory exploration behavior, multicellular organism growth, pyramidal neuron development, bicarbonate transport, bicarbonate transport, bicarbonate transport, post-embryonic development, response to light stimulus, visual perception, chloride transport, 31 6 26 87 17 50 59 18 48 ENSG00000144306 chr2 174395730 174429575 + SCRN3 protein_coding 79634 GO:0070004, GO:0016805, cysteine-type exopeptidase activity, dipeptidase activity, GO:0006508, proteolysis, 103 86 73 68 121 90 96 79 71 ENSG00000144320 chr2 175923892 176002839 - LNPK protein_coding 80856 GO:0098826, GO:0071782, GO:0030176, GO:0016021, GO:0005789, GO:0005783, GO:0005654, endoplasmic reticulum tubular network membrane, endoplasmic reticulum tubular network, integral component of endoplasmic reticulum membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, GO:0046872, GO:0042802, metal ion binding, identical protein binding, GO:1903373, GO:0071788, GO:0071786, GO:0060173, GO:0042733, GO:0035115, GO:0032330, GO:0007596, GO:0007029, positive regulation of endoplasmic reticulum tubular network organization, endoplasmic reticulum tubular network maintenance, endoplasmic reticulum tubular network organization, limb development, embryonic digit morphogenesis, embryonic forelimb morphogenesis, regulation of chondrocyte differentiation, blood coagulation, endoplasmic reticulum organization, 112 96 149 93 101 97 72 72 82 ENSG00000144331 chr2 179441982 179861505 - ZNF385B protein_coding 151126 GO:0005634, GO:0005634, nucleus, nucleus, GO:0008270, GO:0003676, GO:0002039, zinc ion binding, nucleic acid binding, p53 binding, GO:0072332, intrinsic apoptotic signaling pathway by p53 class mediator, 0 0 0 0 0 0 2 0 5 ENSG00000144339 chr2 191949043 192195709 - TMEFF2 protein_coding This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 23671 GO:0016021, GO:0005886, GO:0005604, integral component of membrane, plasma membrane, basement membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0051497, GO:0045720, GO:0044319, GO:0034446, GO:0030336, GO:0016477, GO:0009888, GO:0009887, negative regulation of stress fiber assembly, negative regulation of integrin biosynthetic process, wound healing, spreading of cells, substrate adhesion-dependent cell spreading, negative regulation of cell migration, cell migration, tissue development, animal organ morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000144354 chr2 173354820 173368997 + CDCA7 protein_coding This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 83879 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0042127, GO:0006915, GO:0006355, regulation of cell population proliferation, apoptotic process, regulation of transcription, DNA-templated, 5 0 16 20 7 12 7 9 33 ENSG00000144355 chr2 172084740 172089677 + DLX1 protein_coding This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 1745 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003682, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903845, GO:1902871, GO:0071773, GO:0071560, GO:0048715, GO:0048706, GO:0046533, GO:0045944, GO:0045944, GO:0045746, GO:0045597, GO:0043524, GO:0042475, GO:0030514, GO:0030154, GO:0021893, GO:0021766, GO:0021544, GO:0009954, GO:0009790, GO:0006357, GO:0000122, GO:0000122, negative regulation of cellular response to transforming growth factor beta stimulus, positive regulation of amacrine cell differentiation, cellular response to BMP stimulus, cellular response to transforming growth factor beta stimulus, negative regulation of oligodendrocyte differentiation, embryonic skeletal system development, negative regulation of photoreceptor cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of Notch signaling pathway, positive regulation of cell differentiation, negative regulation of neuron apoptotic process, odontogenesis of dentin-containing tooth, negative regulation of BMP signaling pathway, cell differentiation, cerebral cortex GABAergic interneuron fate commitment, hippocampus development, subpallium development, proximal/distal pattern formation, embryo development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 0 0 0 0 0 0 0 0 ENSG00000144357 chr2 169827458 170084131 + UBR3 protein_coding 130507 GO:0016021, GO:0005737, GO:0000151, integral component of membrane, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0008270, GO:0004842, ubiquitin protein ligase activity, zinc ion binding, ubiquitin-protein transferase activity, GO:0071596, GO:0042048, GO:0016567, GO:0016567, GO:0009792, GO:0007608, GO:0006511, GO:0001967, GO:0001701, ubiquitin-dependent protein catabolic process via the N-end rule pathway, olfactory behavior, protein ubiquitination, protein ubiquitination, embryo development ending in birth or egg hatching, sensory perception of smell, ubiquitin-dependent protein catabolic process, suckling behavior, in utero embryonic development, 585 619 658 328 467 522 376 373 352 ENSG00000144362 chr2 169694454 169701708 + PHOSPHO2 protein_coding 493911 GO:0046872, GO:0033883, GO:0016791, GO:0005515, metal ion binding, pyridoxal phosphatase activity, phosphatase activity, protein binding, GO:0016311, dephosphorylation, 2 5 5 11 5 1 6 3 6 ENSG00000144366 chr2 188291669 188595931 + GULP1 protein_coding The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]. 51454 GO:0005737, cytoplasm, GO:0006915, GO:0006911, GO:0006869, apoptotic process, phagocytosis, engulfment, lipid transport, 0 0 0 0 0 0 0 0 0 ENSG00000144369 chr2 186693971 186765965 + FAM171B protein_coding 165215 GO:0016021, integral component of membrane, 0 0 0 0 0 0 1 0 0 ENSG00000144381 chr2 197486581 197516737 - HSPD1 protein_coding This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]. 3329 GO:0070062, GO:0070062, GO:0046696, GO:0045121, GO:0042588, GO:0032991, GO:0030141, GO:0030135, GO:0030061, GO:0016020, GO:0009986, GO:0005905, GO:0005886, GO:0005829, GO:0005794, GO:0005791, GO:0005782, GO:0005769, GO:0005759, GO:0005759, GO:0005759, GO:0005743, GO:0005743, GO:0005739, GO:0005737, GO:0005615, extracellular exosome, extracellular exosome, lipopolysaccharide receptor complex, membrane raft, zymogen granule, protein-containing complex, secretory granule, coated vesicle, mitochondrial crista, membrane, cell surface, clathrin-coated pit, plasma membrane, cytosol, Golgi apparatus, rough endoplasmic reticulum, peroxisomal matrix, early endosome, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, cytoplasm, extracellular space, GO:0140030, GO:0051087, GO:0051087, GO:0051082, GO:0051082, GO:0043559, GO:0034186, GO:0034185, GO:0031625, GO:0019899, GO:0016887, GO:0016853, GO:0008035, GO:0005524, GO:0005515, GO:0003725, GO:0003723, GO:0003697, GO:0003688, GO:0002039, GO:0002020, GO:0001530, modification-dependent protein binding, chaperone binding, chaperone binding, unfolded protein binding, unfolded protein binding, insulin binding, apolipoprotein A-I binding, apolipoprotein binding, ubiquitin protein ligase binding, enzyme binding, ATPase activity, isomerase activity, high-density lipoprotein particle binding, ATP binding, protein binding, double-stranded RNA binding, RNA binding, single-stranded DNA binding, DNA replication origin binding, p53 binding, protease binding, lipopolysaccharide binding, GO:1903427, GO:0098761, GO:0071866, GO:0051702, GO:0051604, GO:0051384, GO:0051131, GO:0050870, GO:0050870, GO:0050870, GO:0050821, GO:0050821, GO:0050729, GO:0048291, GO:0045041, GO:0044406, GO:0043627, GO:0043524, GO:0043066, GO:0043065, GO:0043032, GO:0042542, GO:0042493, GO:0042220, GO:0042113, GO:0042110, GO:0042110, GO:0042100, GO:0042026, GO:0034605, GO:0034514, GO:0033198, GO:0032755, GO:0032755, GO:0032735, GO:0032733, GO:0032729, GO:0032729, GO:0032729, GO:0032727, GO:0032727, GO:0032496, GO:0016032, GO:0014823, GO:0009409, GO:0008637, GO:0006986, GO:0006919, GO:0006458, GO:0006457, GO:0006357, GO:0002931, GO:0002842, GO:0002755, GO:0002368, GO:0001666, negative regulation of reactive oxygen species biosynthetic process, cellular response to interleukin-7, negative regulation of apoptotic process in bone marrow cell, biological process involved in interaction with symbiont, protein maturation, response to glucocorticoid, chaperone-mediated protein complex assembly, positive regulation of T cell activation, positive regulation of T cell activation, positive regulation of T cell activation, protein stabilization, protein stabilization, positive regulation of inflammatory response, isotype switching to IgG isotypes, protein import into mitochondrial intermembrane space, adhesion of symbiont to host, response to estrogen, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of macrophage activation, response to hydrogen peroxide, response to drug, response to cocaine, B cell activation, T cell activation, T cell activation, B cell proliferation, protein refolding, cellular response to heat, mitochondrial unfolded protein response, response to ATP, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, positive regulation of interferon-alpha production, positive regulation of interferon-alpha production, response to lipopolysaccharide, viral process, response to activity, response to cold, apoptotic mitochondrial changes, response to unfolded protein, activation of cysteine-type endopeptidase activity involved in apoptotic process, 'de novo' protein folding, protein folding, regulation of transcription by RNA polymerase II, response to ischemia, positive regulation of T cell mediated immune response to tumor cell, MyD88-dependent toll-like receptor signaling pathway, B cell cytokine production, response to hypoxia, 588 578 1191 1383 797 1265 1003 520 664 ENSG00000144395 chr2 196639554 196763490 + CCDC150 protein_coding 284992 GO:0005515, protein binding, 1 0 2 0 0 2 0 0 0 ENSG00000144401 chr2 207580631 207625928 - METTL21A protein_coding 151194 GO:0032991, GO:0005829, GO:0005737, GO:0005654, protein-containing complex, cytosol, cytoplasm, nucleoplasm, GO:0051117, GO:0031072, GO:0030544, GO:0016279, GO:0016279, GO:0016279, GO:0008276, GO:0005515, ATPase binding, heat shock protein binding, Hsp70 protein binding, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein methyltransferase activity, protein binding, GO:0043462, GO:0018022, GO:0018022, GO:0006479, GO:0006479, regulation of ATPase activity, peptidyl-lysine methylation, peptidyl-lysine methylation, protein methylation, protein methylation, 104 152 226 149 186 324 141 155 257 ENSG00000144406 chr2 209771993 209999300 + UNC80 protein_coding The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]. 285175 GO:0034703, GO:0030424, GO:0005886, cation channel complex, axon, plasma membrane, GO:0005261, cation channel activity, GO:0098655, GO:0055080, GO:0034220, cation transmembrane transport, cation homeostasis, ion transmembrane transport, 0 1 2 0 0 0 1 0 0 ENSG00000144407 chr2 208359714 208854503 + PTH2R protein_coding The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 5746 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0017046, GO:0008528, GO:0005515, GO:0004991, peptide hormone binding, G protein-coupled peptide receptor activity, protein binding, parathyroid hormone receptor activity, GO:0120162, GO:0007188, GO:0007186, GO:0007166, positive regulation of cold-induced thermogenesis, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 2 1 4 5 8 0 8 6 7 ENSG00000144410 chr2 206939554 206969474 + CPO protein_coding This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 2011]. 130749 GO:0046658, GO:0016324, GO:0005615, anchored component of plasma membrane, apical plasma membrane, extracellular space, GO:0008270, GO:0004181, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, metallocarboxypeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000144426 chr2 203014879 203226378 + NBEAL1 protein_coding 65065 GO:0016020, GO:0005829, membrane, cytosol, GO:0019901, protein kinase binding, GO:0008104, protein localization, 60 54 107 43 40 61 64 38 82 ENSG00000144445 chr2 210021423 210171383 - KANSL1L protein_coding 151050 GO:0044545, NSL complex, GO:0046972, GO:0043996, GO:0043995, GO:0035035, histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), histone acetyltransferase binding, GO:0043984, GO:0043982, GO:0043981, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, 365 443 516 349 497 536 410 327 510 ENSG00000144451 chr2 213284379 214410501 + SPAG16 protein_coding Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]. 79582 GO:1990716, GO:0036126, GO:0005930, axonemal central apparatus, sperm flagellum, axoneme, GO:0060271, GO:0035082, GO:0035082, GO:0007288, cilium assembly, axoneme assembly, axoneme assembly, sperm axoneme assembly, 3 1 9 11 0 18 12 0 2 ENSG00000144452 chr2 214931542 215138428 - ABCA12 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 26154 GO:0097209, GO:0043231, GO:0016021, GO:0005886, GO:0005886, GO:0005829, GO:0005737, epidermal lamellar body, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0042626, GO:0034191, GO:0034191, GO:0034040, GO:0016887, GO:0005524, GO:0005515, GO:0005319, GO:0005319, GO:0005319, GO:0005102, ATPase-coupled transmembrane transporter activity, apolipoprotein A-I receptor binding, apolipoprotein A-I receptor binding, ATPase-coupled lipid transmembrane transporter activity, ATPase activity, ATP binding, protein binding, lipid transporter activity, lipid transporter activity, lipid transporter activity, signaling receptor binding, GO:2000010, GO:0072659, GO:0072659, GO:0061436, GO:0055088, GO:0055085, GO:0048286, GO:0045055, GO:0043129, GO:0035627, GO:0033700, GO:0032940, GO:0031424, GO:0019725, GO:0010875, GO:0006869, GO:0006869, GO:0006869, positive regulation of protein localization to cell surface, protein localization to plasma membrane, protein localization to plasma membrane, establishment of skin barrier, lipid homeostasis, transmembrane transport, lung alveolus development, regulated exocytosis, surfactant homeostasis, ceramide transport, phospholipid efflux, secretion by cell, keratinization, cellular homeostasis, positive regulation of cholesterol efflux, lipid transport, lipid transport, lipid transport, 0 0 0 0 0 1 0 0 0 ENSG00000144455 chr3 3700814 4467281 - SUMF1 protein_coding This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 285362 GO:0005788, GO:0005783, GO:0005783, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, GO:1903135, GO:0120147, GO:0042802, GO:0016491, cupric ion binding, Formylglycine-generating oxidase activity, identical protein binding, oxidoreductase activity, GO:0043687, GO:0043687, GO:0018158, GO:0006687, post-translational protein modification, post-translational protein modification, protein oxidation, glycosphingolipid metabolic process, 99 105 123 33 53 73 61 69 81 ENSG00000144460 chr2 225399710 225654018 + NYAP2 protein_coding 57624 GO:0005515, protein binding, GO:0048812, GO:0014065, neuron projection morphogenesis, phosphatidylinositol 3-kinase signaling, 0 0 0 1 0 1 0 0 0 ENSG00000144468 chr2 226835581 226999215 + RHBDD1 protein_coding 84236 GO:0044322, GO:0031966, GO:0030176, GO:0005789, GO:0005783, GO:0005783, endoplasmic reticulum quality control compartment, mitochondrial membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:2000254, GO:1904211, GO:0048515, GO:0043687, GO:0043066, GO:0043066, GO:0036503, GO:0034644, GO:0034620, GO:0034620, GO:0034620, GO:0031293, GO:0010954, GO:0006915, regulation of male germ cell proliferation, membrane protein proteolysis involved in retrograde protein transport, ER to cytosol, spermatid differentiation, post-translational protein modification, negative regulation of apoptotic process, negative regulation of apoptotic process, ERAD pathway, cellular response to UV, cellular response to unfolded protein, cellular response to unfolded protein, cellular response to unfolded protein, membrane protein intracellular domain proteolysis, positive regulation of protein processing, apoptotic process, 62 35 70 66 56 83 65 38 64 ENSG00000144476 chr2 236567787 236582358 + ACKR3 protein_coding This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]. 57007 GO:0055037, GO:0048471, GO:0043231, GO:0016021, GO:0009986, GO:0009897, GO:0005905, GO:0005886, GO:0005886, GO:0005769, GO:0005768, GO:0005634, recycling endosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, integral component of membrane, cell surface, external side of plasma membrane, clathrin-coated pit, plasma membrane, plasma membrane, early endosome, endosome, nucleus, GO:0019958, GO:0019957, GO:0016494, GO:0016493, GO:0015026, GO:0005515, GO:0005044, C-X-C chemokine binding, C-C chemokine binding, C-X-C chemokine receptor activity, C-C chemokine receptor activity, coreceptor activity, protein binding, scavenger receptor activity, GO:1905322, GO:1902230, GO:0070374, GO:0070098, GO:0060326, GO:0031623, GO:0019722, GO:0016032, GO:0007204, GO:0007186, GO:0007155, GO:0006955, GO:0001570, GO:0001525, positive regulation of mesenchymal stem cell migration, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, cell chemotaxis, receptor internalization, calcium-mediated signaling, viral process, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cell adhesion, immune response, vasculogenesis, angiogenesis, 0 2 1 4 1 5 4 0 4 ENSG00000144481 chr2 233917398 234019522 + TRPM8 protein_coding 79054 GO:0045121, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005789, membrane raft, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0099604, GO:0042802, GO:0005515, GO:0005261, ligand-gated calcium channel activity, identical protein binding, protein binding, cation channel activity, GO:0120162, GO:0098655, GO:0070838, GO:0070588, GO:0070588, GO:0050955, GO:0019722, GO:0016048, GO:0009409, GO:0006874, positive regulation of cold-induced thermogenesis, cation transmembrane transport, divalent metal ion transport, calcium ion transmembrane transport, calcium ion transmembrane transport, thermoception, calcium-mediated signaling, detection of temperature stimulus, response to cold, cellular calcium ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000144485 chr2 238238267 238240662 - HES6 protein_coding This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008]. 55502 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:1990837, GO:0061629, GO:0046983, GO:0008134, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, RNA polymerase II-specific DNA-binding transcription factor binding, protein dimerization activity, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050767, GO:0043433, GO:0009952, GO:0006357, GO:0006355, GO:0000122, regulation of neurogenesis, negative regulation of DNA-binding transcription factor activity, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 2 5 8 0 18 10 0 7 ENSG00000144488 chr2 238100157 238133287 + ESPNL protein_coding 339768 GO:0032426, GO:0005737, stereocilium tip, cytoplasm, GO:0051015, GO:0051015, GO:0005515, actin filament binding, actin filament binding, protein binding, GO:0051017, GO:0007605, actin filament bundle assembly, sensory perception of sound, 0 1 0 1 1 0 0 0 0 ENSG00000144504 chr2 240479422 240569209 - ANKMY1 protein_coding 51281 GO:0046872, metal ion binding, 138 133 203 119 78 112 81 103 106 ENSG00000144524 chr2 231781671 231809254 + COPS7B protein_coding 64708 GO:0008180, GO:0008180, GO:0005829, GO:0005654, GO:0005654, COP9 signalosome, COP9 signalosome, cytosol, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0016032, GO:0010387, GO:0006283, GO:0000715, GO:0000338, post-translational protein modification, viral process, COP9 signalosome assembly, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA damage recognition, protein deneddylation, 57 77 55 77 67 94 61 57 51 ENSG00000144535 chr2 231961245 232344350 + DIS3L2 protein_coding The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]. 129563 GO:0005844, GO:0005737, GO:0000932, GO:0000932, GO:0000178, polysome, cytoplasm, P-body, P-body, exosome (RNase complex), GO:0008266, GO:0005515, GO:0004540, GO:0000287, GO:0000175, GO:0000175, poly(U) RNA binding, protein binding, ribonuclease activity, magnesium ion binding, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:1990074, GO:0090503, GO:0051306, GO:0051301, GO:0034427, GO:0019827, GO:0010587, GO:0010587, GO:0010587, GO:0008285, GO:0006402, GO:0000291, GO:0000278, polyuridylation-dependent mRNA catabolic process, RNA phosphodiester bond hydrolysis, exonucleolytic, mitotic sister chromatid separation, cell division, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', stem cell population maintenance, miRNA catabolic process, miRNA catabolic process, miRNA catabolic process, negative regulation of cell population proliferation, mRNA catabolic process, nuclear-transcribed mRNA catabolic process, exonucleolytic, mitotic cell cycle, 29 16 52 68 26 71 70 26 66 ENSG00000144550 chr3 9703807 9729908 + CPNE9 protein_coding 151835 GO:0070062, GO:0005886, GO:0005615, extracellular exosome, plasma membrane, extracellular space, GO:0046872, GO:0005544, metal ion binding, calcium-dependent phospholipid binding, GO:1903861, GO:0071277, positive regulation of dendrite extension, cellular response to calcium ion, 2 10 2 15 23 14 15 8 10 ENSG00000144554 chr3 10026414 10101930 + FANCD2 protein_coding The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 2177 GO:0016604, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000793, nuclear body, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, condensed chromosome, GO:0070182, GO:0070182, GO:0005515, DNA polymerase binding, DNA polymerase binding, protein binding, GO:2000348, GO:1990918, GO:0097150, GO:0051090, GO:0050727, GO:0048854, GO:0045589, GO:0036297, GO:0036297, GO:0034599, GO:0031573, GO:0010332, GO:0007276, GO:0007129, regulation of CD40 signaling pathway, double-strand break repair involved in meiotic recombination, neuronal stem cell population maintenance, regulation of DNA-binding transcription factor activity, regulation of inflammatory response, brain morphogenesis, regulation of regulatory T cell differentiation, interstrand cross-link repair, interstrand cross-link repair, cellular response to oxidative stress, intra-S DNA damage checkpoint, response to gamma radiation, gamete generation, homologous chromosome pairing at meiosis, 236 243 266 248 372 335 314 255 243 ENSG00000144559 chr3 11790442 11846919 - TAMM41 protein_coding 132001 GO:0031314, GO:0019898, GO:0005743, extrinsic component of mitochondrial inner membrane, extrinsic component of membrane, mitochondrial inner membrane, GO:0005515, GO:0004605, protein binding, phosphatidate cytidylyltransferase activity, GO:0032049, GO:0016024, cardiolipin biosynthetic process, CDP-diacylglycerol biosynthetic process, 0 1 4 6 12 9 6 0 4 ENSG00000144560 chr3 11556070 11771350 - VGLL4 protein_coding 9686 GO:0005634, nucleus, GO:0005515, GO:0001223, protein binding, transcription coactivator binding, GO:1903364, GO:0060044, GO:0045892, GO:0045892, GO:0035331, GO:0035331, GO:0030308, GO:0030178, positive regulation of cellular protein catabolic process, negative regulation of cardiac muscle cell proliferation, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of hippo signaling, negative regulation of hippo signaling, negative regulation of cell growth, negative regulation of Wnt signaling pathway, 60 80 86 68 69 149 90 73 73 ENSG00000144566 chr3 19947079 19985175 + RAB5A protein_coding 5868 GO:0098993, GO:0098842, GO:0098559, GO:0070062, GO:0045335, GO:0045121, GO:0043679, GO:0043195, GO:0043025, GO:0042470, GO:0036477, GO:0032009, GO:0031901, GO:0030670, GO:0030665, GO:0030425, GO:0030425, GO:0030424, GO:0030424, GO:0030139, GO:0015629, GO:0012505, GO:0010008, GO:0010008, GO:0008021, GO:0005886, GO:0005829, GO:0005829, GO:0005769, GO:0005769, GO:0005768, GO:0005768, GO:0005737, GO:0001726, anchored component of synaptic vesicle membrane, postsynaptic early endosome, cytoplasmic side of early endosome membrane, extracellular exosome, phagocytic vesicle, membrane raft, axon terminus, terminal bouton, neuronal cell body, melanosome, somatodendritic compartment, early phagosome, early endosome membrane, phagocytic vesicle membrane, clathrin-coated vesicle membrane, dendrite, dendrite, axon, axon, endocytic vesicle, actin cytoskeleton, endomembrane system, endosome membrane, endosome membrane, synaptic vesicle, plasma membrane, cytosol, cytosol, early endosome, early endosome, endosome, endosome, cytoplasm, ruffle, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:2000785, GO:2000300, GO:2000286, GO:0150093, GO:0061024, GO:0051489, GO:0051489, GO:0051036, GO:0048169, GO:0045921, GO:0045022, GO:0043687, GO:0039694, GO:0036465, GO:0030100, GO:0007596, GO:0006909, GO:0006897, GO:0006897, GO:0006886, GO:0006661, regulation of autophagosome assembly, regulation of synaptic vesicle exocytosis, receptor internalization involved in canonical Wnt signaling pathway, amyloid-beta clearance by transcytosis, membrane organization, regulation of filopodium assembly, regulation of filopodium assembly, regulation of endosome size, regulation of long-term neuronal synaptic plasticity, positive regulation of exocytosis, early endosome to late endosome transport, post-translational protein modification, viral RNA genome replication, synaptic vesicle recycling, regulation of endocytosis, blood coagulation, phagocytosis, endocytosis, endocytosis, intracellular protein transport, phosphatidylinositol biosynthetic process, 2023 1520 2798 1079 1260 1464 1233 1019 1184 ENSG00000144567 chr2 219176225 219185479 + RETREG2 protein_coding 79137 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1436 1711 1409 636 1173 864 870 1046 705 ENSG00000144579 chr2 218398256 218405941 + CTDSP1 protein_coding This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]. 58190 GO:0070062, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, nucleoplasm, nucleus, nucleus, GO:0106307, GO:0106306, GO:0046872, GO:0008420, GO:0008420, GO:0005515, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, RNA polymerase II CTD heptapeptide repeat phosphatase activity, RNA polymerase II CTD heptapeptide repeat phosphatase activity, protein binding, phosphoprotein phosphatase activity, GO:2000134, GO:0045665, GO:0006470, GO:0006357, GO:0001933, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of neuron differentiation, protein dephosphorylation, regulation of transcription by RNA polymerase II, negative regulation of protein phosphorylation, 2251 2519 2663 855 1727 1280 1074 1574 1244 ENSG00000144580 chr2 218568580 218597080 + CNOT9 protein_coding This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]. 9125 GO:0032991, GO:0030015, GO:0030014, GO:0016020, GO:0005829, GO:0005634, GO:0000932, GO:0000932, protein-containing complex, CCR4-NOT core complex, CCR4-NOT complex, membrane, cytosol, nucleus, P-body, P-body, GO:0042803, GO:0019904, GO:0019900, GO:0005515, GO:0005154, protein homodimerization activity, protein domain specific binding, kinase binding, protein binding, epidermal growth factor receptor binding, GO:0045742, GO:0033147, GO:0033138, GO:0031047, GO:0019221, GO:0017148, GO:0007548, GO:0006977, GO:0000289, positive regulation of epidermal growth factor receptor signaling pathway, negative regulation of intracellular estrogen receptor signaling pathway, positive regulation of peptidyl-serine phosphorylation, gene silencing by RNA, cytokine-mediated signaling pathway, negative regulation of translation, sex differentiation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, nuclear-transcribed mRNA poly(A) tail shortening, 175 164 263 195 183 240 206 117 189 ENSG00000144583 chr2 216257865 216372027 - MARCH4 protein_coding MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]. 57574 GO:0016021, GO:0005802, GO:0005795, GO:0000139, integral component of membrane, trans-Golgi network, Golgi stack, Golgi membrane, GO:0008270, GO:0004842, zinc ion binding, ubiquitin-protein transferase activity, GO:0016567, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000144589 chr2 219597860 219616451 + STK11IP protein_coding 114790 GO:0035578, GO:0005765, GO:0005737, GO:0005737, GO:0005576, azurophil granule lumen, lysosomal membrane, cytoplasm, cytoplasm, extracellular region, GO:0019901, GO:0019901, protein kinase binding, protein kinase binding, GO:0043312, GO:0008104, GO:0008104, neutrophil degranulation, protein localization, protein localization, 186 202 232 236 297 246 236 194 182 ENSG00000144591 chr2 219498867 219506989 + GMPPA protein_coding This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]. 29926 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0016779, GO:0005515, nucleotidyltransferase activity, protein binding, GO:0009058, biosynthetic process, 50 67 52 52 86 77 57 61 36 ENSG00000144596 chr3 14489111 14556075 - GRIP2 protein_coding 80852 GO:0098978, GO:0045211, GO:0030425, GO:0014069, GO:0005886, GO:0005829, glutamatergic synapse, postsynaptic membrane, dendrite, postsynaptic density, plasma membrane, cytosol, GO:0035254, GO:0030159, glutamate receptor binding, signaling receptor complex adaptor activity, GO:0099003, GO:0098887, GO:0045777, GO:0014824, GO:0007219, vesicle-mediated transport in synapse, neurotransmitter receptor transport, endosome to postsynaptic membrane, positive regulation of blood pressure, artery smooth muscle contraction, Notch signaling pathway, 115 117 141 84 185 142 93 167 115 ENSG00000144597 chr3 15427355 15450635 + EAF1 protein_coding 85403 GO:0045171, GO:0043231, GO:0032783, GO:0016607, GO:0016604, GO:0015030, GO:0008023, GO:0005654, GO:0005654, intercellular bridge, intracellular membrane-bounded organelle, super elongation complex, nuclear speck, nuclear body, Cajal body, transcription elongation factor complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003711, protein binding, transcription elongation regulator activity, GO:0034243, GO:0006368, GO:0006366, regulation of transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 550 661 818 359 353 588 306 352 475 ENSG00000144619 chr3 2098813 3057956 + CNTN4 protein_coding This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]. 152330 GO:0031225, GO:0030424, GO:0030424, GO:0005886, GO:0005886, GO:0005886, GO:0005576, anchored component of membrane, axon, axon, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0098632, cell-cell adhesion mediator activity, GO:0070593, GO:0048167, GO:0045665, GO:0031175, GO:0007420, GO:0007413, GO:0007411, GO:0007411, GO:0007409, GO:0007399, GO:0007158, GO:0007156, dendrite self-avoidance, regulation of synaptic plasticity, negative regulation of neuron differentiation, neuron projection development, brain development, axonal fasciculation, axon guidance, axon guidance, axonogenesis, nervous system development, neuron cell-cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, 0 2 0 0 0 0 0 0 0 ENSG00000144635 chr3 32525971 32570874 - DYNC1LI1 protein_coding The protein encoded by this gene belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016]. 51143 GO:0101003, GO:0030667, GO:0016020, GO:0005886, GO:0005874, GO:0005868, GO:0005868, GO:0005829, GO:0005813, GO:0000922, GO:0000777, GO:0000776, ficolin-1-rich granule membrane, secretory granule membrane, membrane, plasma membrane, microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, cytosol, centrosome, spindle pole, condensed chromosome kinetochore, kinetochore, GO:0045504, GO:0045504, GO:0019003, GO:0005525, GO:0005524, GO:0005515, GO:0003774, GO:0003723, dynein heavy chain binding, dynein heavy chain binding, GDP binding, GTP binding, ATP binding, protein binding, motor activity, RNA binding, GO:0090267, GO:0051301, GO:0043312, GO:0019886, GO:0016032, GO:0007049, GO:0007018, GO:0006888, GO:0000226, positive regulation of mitotic cell cycle spindle assembly checkpoint, cell division, neutrophil degranulation, antigen processing and presentation of exogenous peptide antigen via MHC class II, viral process, cell cycle, microtubule-based movement, endoplasmic reticulum to Golgi vesicle-mediated transport, microtubule cytoskeleton organization, 734 962 642 476 1270 684 624 1206 687 ENSG00000144642 chr3 28574791 30010391 + RBMS3 protein_coding This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]. 27303 GO:1990904, GO:0005829, GO:0005737, GO:0005634, ribonucleoprotein complex, cytosol, cytoplasm, nucleus, GO:0035925, GO:0008266, GO:0008266, GO:0008143, GO:0008143, GO:0003730, GO:0003723, mRNA 3'-UTR AU-rich region binding, poly(U) RNA binding, poly(U) RNA binding, poly(A) binding, poly(A) binding, mRNA 3'-UTR binding, RNA binding, GO:0090090, GO:0045727, GO:0010629, GO:0010628, GO:0002357, negative regulation of canonical Wnt signaling pathway, positive regulation of translation, negative regulation of gene expression, positive regulation of gene expression, defense response to tumor cell, 0 0 0 2 0 0 0 0 0 ENSG00000144644 chr3 30726200 30894765 - GADL1 protein_coding 339896 GO:0005829, cytosol, GO:0030170, GO:0004782, GO:0004068, pyridoxal phosphate binding, sulfinoalanine decarboxylase activity, aspartate 1-decarboxylase activity, GO:0008652, GO:0000098, cellular amino acid biosynthetic process, sulfur amino acid catabolic process, 0 0 0 0 0 6 0 0 0 ENSG00000144645 chr3 31657890 32077580 - OSBPL10 protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 114884 GO:0043231, GO:0016020, GO:0005856, GO:0005829, GO:0005829, intracellular membrane-bounded organelle, membrane, cytoskeleton, cytosol, cytosol, GO:0032934, GO:0015485, GO:0015485, GO:0015248, GO:0005548, GO:0005515, GO:0001786, sterol binding, cholesterol binding, cholesterol binding, sterol transporter activity, phospholipid transporter activity, protein binding, phosphatidylserine binding, GO:0036150, GO:0015918, GO:0015914, phosphatidylserine acyl-chain remodeling, sterol transport, phospholipid transport, 9 15 7 9 15 4 15 20 20 ENSG00000144647 chr3 43079232 43106076 - POMGNT2 protein_coding This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]. 84892 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0097363, GO:0097363, GO:0097363, GO:0016757, GO:0008375, GO:0008375, GO:0008375, GO:0005515, protein O-GlcNAc transferase activity, protein O-GlcNAc transferase activity, protein O-GlcNAc transferase activity, transferase activity, transferring glycosyl groups, acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0035269, GO:0035269, GO:0006493, GO:0006493, GO:0006493, GO:0001764, protein O-linked mannosylation, protein O-linked mannosylation, protein O-linked glycosylation, protein O-linked glycosylation, protein O-linked glycosylation, neuron migration, 22 10 25 23 13 14 7 16 18 ENSG00000144648 chr3 42804752 42887974 + ACKR2 protein_coding This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]. 1238 GO:0055037, GO:0043231, GO:0031965, GO:0009897, GO:0005887, GO:0005886, GO:0005884, GO:0005829, GO:0005769, GO:0005654, recycling endosome, intracellular membrane-bounded organelle, nuclear membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, actin filament, cytosol, early endosome, nucleoplasm, GO:0019957, GO:0016493, GO:0005515, GO:0005044, GO:0004950, C-C chemokine binding, C-C chemokine receptor activity, protein binding, scavenger receptor activity, chemokine receptor activity, GO:0070098, GO:0060326, GO:0019722, GO:0007275, GO:0007204, GO:0007186, GO:0006955, GO:0006954, GO:0006897, chemokine-mediated signaling pathway, cell chemotaxis, calcium-mediated signaling, multicellular organism development, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, inflammatory response, endocytosis, 2 8 3 0 2 0 3 1 0 ENSG00000144649 chr3 42979267 43060211 + FAM198A protein_coding 729085 GO:0043231, GO:0005901, GO:0005794, GO:0005783, GO:0005576, intracellular membrane-bounded organelle, caveola, Golgi apparatus, endoplasmic reticulum, extracellular region, 0 0 1 0 0 0 0 0 0 ENSG00000144655 chr3 39141855 39154562 - CSRNP1 protein_coding This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 64651 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0043565, GO:0043565, GO:0005515, GO:0003700, GO:0003674, GO:0001228, GO:0000981, GO:0000981, sequence-specific DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, molecular_function, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0060325, GO:0060021, GO:0048705, GO:0048008, GO:0045944, GO:0009791, GO:0006915, GO:0006357, face morphogenesis, roof of mouth development, skeletal system morphogenesis, platelet-derived growth factor receptor signaling pathway, positive regulation of transcription by RNA polymerase II, post-embryonic development, apoptotic process, regulation of transcription by RNA polymerase II, 2756 5406 3754 15071 17056 17625 14887 14199 13997 ENSG00000144659 chr3 39383324 39397351 + SLC25A38 protein_coding This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]. 54977 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0015187, glycine transmembrane transporter activity, GO:1904983, GO:0030218, GO:0006783, glycine import into mitochondrion, erythrocyte differentiation, heme biosynthetic process, 40 15 79 68 17 97 39 24 52 ENSG00000144668 chr3 37452115 37823514 + ITGA9 protein_coding This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]. 3680 GO:0034679, GO:0009925, GO:0008305, GO:0005886, integrin alpha9-beta1 complex, basal plasma membrane, integrin complex, plasma membrane, GO:0046872, GO:0043236, GO:0005518, metal ion binding, laminin binding, collagen binding, GO:0042060, GO:0030593, GO:0030198, GO:0007229, GO:0007155, wound healing, neutrophil chemotaxis, extracellular matrix organization, integrin-mediated signaling pathway, cell adhesion, 4 7 12 5 6 5 8 1 4 ENSG00000144671 chr3 38282294 38318575 + SLC22A14 protein_coding This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 9389 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0022857, GO:0005515, GO:0003674, transmembrane transporter activity, protein binding, molecular_function, GO:0055085, GO:0008150, transmembrane transport, biological_process, 1 3 3 4 8 5 3 6 7 ENSG00000144674 chr3 37243177 37366751 + GOLGA4 protein_coding The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]. 2803 GO:0070062, GO:0005829, GO:0005802, GO:0005794, GO:0005737, GO:0005654, GO:0000139, extracellular exosome, cytosol, trans-Golgi network, Golgi apparatus, cytoplasm, nucleoplasm, Golgi membrane, GO:0051020, GO:0005515, GTPase binding, protein binding, GO:0045773, GO:0043001, GO:0043001, GO:0016192, positive regulation of axon extension, Golgi to plasma membrane protein transport, Golgi to plasma membrane protein transport, vesicle-mediated transport, 864 1006 1015 575 588 672 634 479 521 ENSG00000144677 chr3 37861960 37984469 + CTDSPL protein_coding 10217 GO:0070062, GO:0005634, extracellular exosome, nucleus, GO:0106307, GO:0106306, GO:0046872, GO:0008420, GO:0005515, GO:0004721, GO:0003674, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, RNA polymerase II CTD heptapeptide repeat phosphatase activity, protein binding, phosphoprotein phosphatase activity, molecular_function, GO:2000134, GO:0008150, GO:0006470, GO:0001933, negative regulation of G1/S transition of mitotic cell cycle, biological_process, protein dephosphorylation, negative regulation of protein phosphorylation, 17 3 5 4 3 3 3 2 4 ENSG00000144681 chr3 36380344 36548007 + STAC protein_coding 6769 GO:0031234, GO:0031234, GO:0030315, GO:0005829, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, T-tubule, cytosol, GO:0046872, GO:0044325, GO:0005515, metal ion binding, ion channel binding, protein binding, GO:2001259, GO:1903078, GO:1903078, GO:1901387, GO:1901387, GO:0035556, GO:0034605, GO:0007165, GO:0003009, positive regulation of cation channel activity, positive regulation of protein localization to plasma membrane, positive regulation of protein localization to plasma membrane, positive regulation of voltage-gated calcium channel activity, positive regulation of voltage-gated calcium channel activity, intracellular signal transduction, cellular response to heat, signal transduction, skeletal muscle contraction, 0 0 2 0 0 0 0 0 0 ENSG00000144711 chr3 12897220 13283281 - IQSEC1 protein_coding 9922 GO:0043231, GO:0016020, GO:0014069, GO:0008021, GO:0005730, intracellular membrane-bounded organelle, membrane, postsynaptic density, synaptic vesicle, nucleolus, GO:0008289, GO:0005515, GO:0005085, lipid binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0120183, GO:0060996, GO:0051549, GO:0043547, GO:0032012, GO:0030036, positive regulation of focal adhesion disassembly, dendritic spine development, positive regulation of keratinocyte migration, positive regulation of GTPase activity, regulation of ARF protein signal transduction, actin cytoskeleton organization, 4871 5658 8606 2430 4267 4241 2976 3431 4336 ENSG00000144712 chr3 12796472 12871916 + CAND2 protein_coding 23066 GO:0005829, GO:0005634, cytosol, nucleus, GO:0017025, GO:0005515, TBP-class protein binding, protein binding, GO:0045893, GO:0016567, GO:0010265, positive regulation of transcription, DNA-templated, protein ubiquitination, SCF complex assembly, 0 1 3 14 2 5 0 0 1 ENSG00000144713 chr3 12834485 12841588 - RPL32 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]. 6161 GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005829, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 803 571 1100 2189 1073 2337 1531 1010 1534 ENSG00000144724 chr3 61561569 62297613 + PTPRG protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]. 5793 GO:0070062, GO:0005887, extracellular exosome, integral component of plasma membrane, GO:0042802, GO:0005515, GO:0005001, GO:0004725, GO:0004725, identical protein binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1903385, GO:0035335, GO:0010977, GO:0010633, GO:0007420, GO:0007169, GO:0006470, regulation of homophilic cell adhesion, peptidyl-tyrosine dephosphorylation, negative regulation of neuron projection development, negative regulation of epithelial cell migration, brain development, transmembrane receptor protein tyrosine kinase signaling pathway, protein dephosphorylation, 0 0 0 1 0 0 0 0 0 ENSG00000144730 chr3 57089982 57170306 - IL17RD protein_coding This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]. 54756 GO:0016021, GO:0005886, GO:0005794, GO:0005654, GO:0000139, integral component of membrane, plasma membrane, Golgi apparatus, nucleoplasm, Golgi membrane, GO:0030368, interleukin-17 receptor activity, GO:0030512, GO:0019221, GO:0010719, GO:0000165, negative regulation of transforming growth factor beta receptor signaling pathway, cytokine-mediated signaling pathway, negative regulation of epithelial to mesenchymal transition, MAPK cascade, 0 0 0 3 0 0 0 0 0 ENSG00000144736 chr3 72749277 72861914 - SHQ1 protein_coding SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]. 55164 GO:0015030, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, Cajal body, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:2000233, GO:1904874, GO:0043065, GO:0022618, GO:0000493, negative regulation of rRNA processing, positive regulation of telomerase RNA localization to Cajal body, positive regulation of apoptotic process, ribonucleoprotein complex assembly, box H/ACA snoRNP assembly, 5 4 31 46 12 30 30 8 15 ENSG00000144741 chr3 66133610 66388116 + SLC25A26 protein_coding This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]. 115286 GO:0016021, GO:0005743, GO:0005743, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0000095, GO:0000095, GO:0000095, S-adenosyl-L-methionine transmembrane transporter activity, S-adenosyl-L-methionine transmembrane transporter activity, S-adenosyl-L-methionine transmembrane transporter activity, GO:1901962, GO:0015805, GO:0006811, S-adenosyl-L-methionine transmembrane transport, S-adenosyl-L-methionine transport, ion transport, 35 34 58 75 37 78 47 14 55 ENSG00000144744 chr3 69054730 69080408 - UBA3 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9039 GO:0032991, GO:0005829, GO:0005737, GO:0005634, GO:0005634, protein-containing complex, cytosol, cytoplasm, nucleus, nucleus, GO:0046982, GO:0044877, GO:0042802, GO:0019788, GO:0019781, GO:0019781, GO:0019781, GO:0016922, GO:0005524, GO:0005515, protein heterodimerization activity, protein-containing complex binding, identical protein binding, NEDD8 transferase activity, NEDD8 activating enzyme activity, NEDD8 activating enzyme activity, NEDD8 activating enzyme activity, nuclear receptor binding, ATP binding, protein binding, GO:0051726, GO:0045892, GO:0045116, GO:0045116, GO:0045116, GO:0043687, GO:0032446, GO:0007113, GO:0006508, GO:0006464, regulation of cell cycle, negative regulation of transcription, DNA-templated, protein neddylation, protein neddylation, protein neddylation, post-translational protein modification, protein modification by small protein conjugation, endomitotic cell cycle, proteolysis, cellular protein modification process, 473 382 571 448 548 603 437 380 485 ENSG00000144746 chr3 69084944 69106066 + ARL6IP5 protein_coding Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]. 10550 GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005856, GO:0005789, integral component of membrane, membrane, membrane, plasma membrane, cytoskeleton, endoplasmic reticulum membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0051051, GO:0043280, GO:0043065, GO:0032874, GO:0015813, GO:0010917, GO:0008631, GO:0002037, negative regulation of transport, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, positive regulation of stress-activated MAPK cascade, L-glutamate transmembrane transport, negative regulation of mitochondrial membrane potential, intrinsic apoptotic signaling pathway in response to oxidative stress, negative regulation of L-glutamate import across plasma membrane, 862 657 1416 521 408 687 464 474 503 ENSG00000144747 chr3 69019827 69052339 - TMF1 protein_coding 7110 GO:0005829, GO:0005794, GO:0005794, GO:0005783, GO:0005634, GO:0000139, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, nucleus, Golgi membrane, GO:0050681, GO:0030374, GO:0005515, GO:0003677, androgen receptor binding, nuclear receptor coactivator activity, protein binding, DNA binding, GO:2000845, GO:0061136, GO:0045944, GO:0043066, GO:0042742, GO:0033327, GO:0032275, GO:0030521, GO:0030317, GO:0010629, GO:0007289, GO:0001819, GO:0001675, positive regulation of testosterone secretion, regulation of proteasomal protein catabolic process, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, defense response to bacterium, Leydig cell differentiation, luteinizing hormone secretion, androgen receptor signaling pathway, flagellated sperm motility, negative regulation of gene expression, spermatid nucleus differentiation, positive regulation of cytokine production, acrosome assembly, 1627 1612 2421 736 1114 1122 809 971 900 ENSG00000144749 chr3 66378797 66501263 - LRIG1 protein_coding 26018 GO:0031012, GO:0016021, GO:0005886, GO:0005615, extracellular matrix, integral component of membrane, plasma membrane, extracellular space, GO:0005515, protein binding, GO:0060384, GO:0032474, GO:0022405, GO:0007605, innervation, otolith morphogenesis, hair cycle process, sensory perception of sound, 104 83 162 126 52 126 90 42 98 ENSG00000144771 chr3 54918237 54967088 - LRTM1 protein_coding 57408 GO:0016021, integral component of membrane, GO:0048495, GO:0008201, GO:0005515, Roundabout binding, heparin binding, protein binding, GO:0051965, GO:0050919, GO:0007411, positive regulation of synapse assembly, negative chemotaxis, axon guidance, 0 0 0 0 0 0 0 0 0 ENSG00000144785 chr12 56285916 56316059 - AC073896.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000144791 chr3 45555394 45686338 + LIMD1 protein_coding 8994 GO:0016442, GO:0005925, GO:0005912, GO:0005912, GO:0005886, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000932, GO:0000932, RISC complex, focal adhesion, adherens junction, adherens junction, plasma membrane, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, nucleus, P-body, P-body, GO:0046872, GO:0005515, GO:0003714, GO:0003714, metal ion binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:2000637, GO:2000637, GO:0090090, GO:0061418, GO:0045892, GO:0045892, GO:0045668, GO:0035331, GO:0035331, GO:0035195, GO:0033962, GO:0016477, GO:0016310, GO:0008360, GO:0007010, GO:0007010, GO:0006355, GO:0002076, GO:0001666, GO:0001666, positive regulation of gene silencing by miRNA, positive regulation of gene silencing by miRNA, negative regulation of canonical Wnt signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, negative regulation of hippo signaling, negative regulation of hippo signaling, gene silencing by miRNA, P-body assembly, cell migration, phosphorylation, regulation of cell shape, cytoskeleton organization, cytoskeleton organization, regulation of transcription, DNA-templated, osteoblast development, response to hypoxia, response to hypoxia, 38 45 92 82 40 103 79 25 79 ENSG00000144792 chr3 44578223 44599694 + ZNF660 protein_coding This gene encodes a protein that contains multiple C2H2 zinc finger domains, and is located in a cluster of zinc-finger encoding genes on chromosome 3. Naturally-occurring readthrough transcription is observed between this gene and the downstream zinc finger protein 197 gene and is represented by GeneID:110354863. [provided by RefSeq, May 2017]. 285349 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2 2 3 0 4 0 4 0 1 ENSG00000144802 chr3 101827991 101861022 + NFKBIZ protein_coding This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 64332 GO:0036464, GO:0016607, GO:0005634, cytoplasmic ribonucleoprotein granule, nuclear speck, nucleus, GO:0005515, protein binding, GO:2000321, GO:0050852, GO:0050729, GO:0010468, GO:0006954, positive regulation of T-helper 17 cell differentiation, T cell receptor signaling pathway, positive regulation of inflammatory response, regulation of gene expression, inflammatory response, 1611 2144 12144 6513 10811 27345 9953 8622 26417 ENSG00000144810 chr3 99638475 99799226 + COL8A1 protein_coding This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]. 1295 GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005591, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type VIII trimer, extracellular region, GO:0030020, GO:0005515, GO:0005201, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0050673, GO:0048593, GO:0035987, GO:0030198, GO:0030198, GO:0010811, GO:0007155, GO:0001525, epithelial cell proliferation, camera-type eye morphogenesis, endodermal cell differentiation, extracellular matrix organization, extracellular matrix organization, positive regulation of cell-substrate adhesion, cell adhesion, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000144815 chr3 101779202 101827392 + NXPE3 protein_coding This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 91775 GO:0005576, extracellular region, GO:0005515, protein binding, 178 125 122 92 59 140 123 67 93 ENSG00000144820 chr3 100609589 100695479 + ADGRG7 protein_coding 84873 GO:0016021, GO:0005887, integral component of membrane, integral component of plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0007189, GO:0007186, GO:0007166, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000144821 chr3 108380369 108529322 - MYH15 protein_coding 22989 GO:0032982, GO:0030016, GO:0016459, myosin filament, myofibril, myosin complex, GO:0051015, GO:0005524, GO:0005516, GO:0003774, actin filament binding, ATP binding, calmodulin binding, motor activity, 0 0 0 2 0 3 0 0 0 ENSG00000144824 chr3 111732497 111976517 + PHLDB2 protein_coding 90102 GO:0045180, GO:0045180, GO:0045111, GO:0031252, GO:0005925, GO:0005886, GO:0005829, basal cortex, basal cortex, intermediate filament cytoskeleton, cell leading edge, focal adhesion, plasma membrane, cytosol, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:1904261, GO:1904261, GO:1903690, GO:0070507, GO:0070507, GO:0051895, GO:0051497, GO:0045184, GO:0010717, GO:0010470, GO:0000226, positive regulation of basement membrane assembly involved in embryonic body morphogenesis, positive regulation of basement membrane assembly involved in embryonic body morphogenesis, negative regulation of wound healing, spreading of epidermal cells, regulation of microtubule cytoskeleton organization, regulation of microtubule cytoskeleton organization, negative regulation of focal adhesion assembly, negative regulation of stress fiber assembly, establishment of protein localization, regulation of epithelial to mesenchymal transition, regulation of gastrulation, microtubule cytoskeleton organization, 12 4 47 17 8 63 12 8 39 ENSG00000144827 chr3 111979010 111993363 + ABHD10 protein_coding This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 55347 GO:0005829, GO:0005759, GO:0005739, cytosol, mitochondrial matrix, mitochondrion, GO:0102390, GO:0008474, GO:0004553, GO:0004553, mycophenolic acid acyl-glucuronide esterase activity, palmitoyl-(protein) hydrolase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0052695, GO:0019391, GO:0002084, cellular glucuronidation, glucuronoside catabolic process, protein depalmitoylation, 12 39 70 23 16 53 26 17 22 ENSG00000144834 chr3 111998664 112013887 + TAGLN3 protein_coding 29114 GO:0005634, nucleus, GO:0007417, GO:0000122, central nervous system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000144837 chr3 119597842 119629811 + PLA1A protein_coding The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]. 51365 GO:0005615, GO:0005576, GO:0002080, extracellular space, extracellular region, acrosomal membrane, GO:0052739, GO:0016298, GO:0008970, GO:0004806, phosphatidylserine 1-acylhydrolase activity, lipase activity, phospholipase A1 activity, triglyceride lipase activity, GO:0036150, GO:0016042, GO:0006658, GO:0006629, phosphatidylserine acyl-chain remodeling, lipid catabolic process, phosphatidylserine metabolic process, lipid metabolic process, 1 0 0 0 0 0 0 0 0 ENSG00000144840 chr3 120686681 120742993 - RABL3 protein_coding 285282 GO:0012505, endomembrane system, GO:0042803, GO:0005525, GO:0005515, GO:0003924, protein homodimerization activity, GTP binding, protein binding, GTPase activity, GO:1903059, GO:0050821, GO:0046578, GO:0033077, GO:0030183, GO:0006886, GO:0001779, regulation of protein lipidation, protein stabilization, regulation of Ras protein signal transduction, T cell differentiation in thymus, B cell differentiation, intracellular protein transport, natural killer cell differentiation, 82 64 115 89 54 84 79 42 57 ENSG00000144843 chr3 119579268 119589945 + ADPRH protein_coding The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]. 141 GO:0055037, GO:0005829, GO:0005776, GO:0005615, recycling endosome, cytosol, autophagosome, extracellular space, GO:0031267, GO:0030955, GO:0005515, GO:0005096, GO:0003875, GO:0003875, GO:0000287, small GTPase binding, potassium ion binding, protein binding, GTPase activator activity, ADP-ribosylarginine hydrolase activity, ADP-ribosylarginine hydrolase activity, magnesium ion binding, GO:2000785, GO:0090630, GO:0051725, GO:0006886, GO:0006464, regulation of autophagosome assembly, activation of GTPase activity, protein de-ADP-ribosylation, intracellular protein transport, cellular protein modification process, 2 5 7 4 5 8 10 6 4 ENSG00000144847 chr3 118900557 119146068 - IGSF11 protein_coding IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]. 152404 GO:0060076, GO:0016021, GO:0014069, GO:0005911, GO:0005886, excitatory synapse, integral component of membrane, postsynaptic density, cell-cell junction, plasma membrane, GO:0035255, GO:0005515, ionotropic glutamate receptor binding, protein binding, GO:1900273, GO:0061885, GO:0045185, GO:0040008, GO:0007156, positive regulation of long-term synaptic potentiation, positive regulation of mini excitatory postsynaptic potential, maintenance of protein location, regulation of growth, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 0 0 0 0 0 1 0 ENSG00000144848 chr3 112532509 112562046 - ATG3 protein_coding This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 64422 GO:0005829, GO:0005829, GO:0005829, GO:0000153, GO:0000153, cytosol, cytosol, cytosol, cytoplasmic ubiquitin ligase complex, cytoplasmic ubiquitin ligase complex, GO:0019899, GO:0019787, GO:0019777, GO:0019776, GO:0019776, GO:0005515, enzyme binding, ubiquitin-like protein transferase activity, Atg12 transferase activity, Atg8 ligase activity, Atg8 ligase activity, protein binding, GO:1902017, GO:0050765, GO:0044804, GO:0043653, GO:0016567, GO:0016236, GO:0006612, GO:0006464, GO:0000422, GO:0000045, GO:0000045, regulation of cilium assembly, negative regulation of phagocytosis, autophagy of nucleus, mitochondrial fragmentation involved in apoptotic process, protein ubiquitination, macroautophagy, protein targeting to membrane, cellular protein modification process, autophagy of mitochondrion, autophagosome assembly, autophagosome assembly, 2194 1655 2326 3640 3459 3668 3178 2200 2398 ENSG00000144852 chr3 119780484 119818485 + NR1I2 protein_coding This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]. 8856 GO:0045111, GO:0016604, GO:0005654, GO:0005654, GO:0000785, intermediate filament cytoskeleton, nuclear body, nucleoplasm, nucleoplasm, chromatin, GO:1990837, GO:0016922, GO:0008270, GO:0008144, GO:0005515, GO:0004879, GO:0004879, GO:0001228, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, nuclear receptor binding, zinc ion binding, drug binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0042908, GO:0042738, GO:0030522, GO:0030154, GO:0008202, GO:0007165, GO:0006805, GO:0006367, GO:0006355, GO:0000122, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, xenobiotic transport, exogenous drug catabolic process, intracellular receptor signaling pathway, cell differentiation, steroid metabolic process, signal transduction, xenobiotic metabolic process, transcription initiation from RNA polymerase II promoter, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 2 0 0 2 4 0 0 ENSG00000144857 chr3 113211003 113287459 + BOC protein_coding The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]. 91653 GO:0044295, GO:0005887, GO:0005886, GO:0005654, axonal growth cone, integral component of plasma membrane, plasma membrane, nucleoplasm, GO:0005515, protein binding, GO:0051149, GO:0045663, GO:0007411, GO:0007224, GO:0007155, positive regulation of muscle cell differentiation, positive regulation of myoblast differentiation, axon guidance, smoothened signaling pathway, cell adhesion, 0 0 0 2 3 6 3 0 3 ENSG00000144867 chr3 133784033 133825772 + SRPRB protein_coding The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]. 58477 GO:0016021, GO:0016020, GO:0005881, GO:0005789, GO:0005785, GO:0005737, integral component of membrane, membrane, cytoplasmic microtubule, endoplasmic reticulum membrane, signal recognition particle receptor complex, cytoplasm, GO:0005525, GTP binding, GO:0045047, GO:0036498, protein targeting to ER, IRE1-mediated unfolded protein response, 23 15 27 28 14 45 21 23 17 ENSG00000144868 chr3 133038391 133397792 + TMEM108 protein_coding 66000 GO:1904115, GO:0036477, GO:0030425, GO:0030424, GO:0030424, GO:0016021, GO:0014069, GO:0014069, GO:0010008, GO:0010008, GO:0005769, GO:0005769, GO:0005575, axon cytoplasm, somatodendritic compartment, dendrite, axon, axon, integral component of membrane, postsynaptic density, postsynaptic density, endosome membrane, endosome membrane, early endosome, early endosome, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1990416, GO:0098815, GO:0097484, GO:0097484, GO:0097106, GO:0097106, GO:0051388, GO:0031175, GO:0021542, GO:0008150, GO:0008090, GO:0008090, GO:0006898, cellular response to brain-derived neurotrophic factor stimulus, modulation of excitatory postsynaptic potential, dendrite extension, dendrite extension, postsynaptic density organization, postsynaptic density organization, positive regulation of neurotrophin TRK receptor signaling pathway, neuron projection development, dentate gyrus development, biological_process, retrograde axonal transport, retrograde axonal transport, receptor-mediated endocytosis, 4 4 10 6 3 7 6 0 0 ENSG00000144891 chr3 148697784 148743008 + AGTR1 protein_coding Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]. 185 GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0046982, GO:0031711, GO:0005515, GO:0004945, GO:0004930, GO:0001596, GO:0001596, GO:0001596, protein heterodimerization activity, bradykinin receptor binding, protein binding, angiotensin type II receptor activity, G protein-coupled receptor activity, angiotensin type I receptor activity, angiotensin type I receptor activity, angiotensin type I receptor activity, GO:2000379, GO:1903589, GO:0097746, GO:0086097, GO:0060326, GO:0051482, GO:0050729, GO:0050727, GO:0042127, GO:0038166, GO:0035813, GO:0034374, GO:0033864, GO:0032430, GO:0032270, GO:0019722, GO:0019229, GO:0019229, GO:0019229, GO:0010873, GO:0010744, GO:0007266, GO:0007204, GO:0007204, GO:0007200, GO:0007186, GO:0007186, GO:0007186, GO:0006954, GO:0003081, GO:0002034, GO:0002018, GO:0001822, GO:0001558, positive regulation of reactive oxygen species metabolic process, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, blood vessel diameter maintenance, phospholipase C-activating angiotensin-activated signaling pathway, cell chemotaxis, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of inflammatory response, regulation of inflammatory response, regulation of cell population proliferation, angiotensin-activated signaling pathway, regulation of renal sodium excretion, low-density lipoprotein particle remodeling, positive regulation of NAD(P)H oxidase activity, positive regulation of phospholipase A2 activity, positive regulation of cellular protein metabolic process, calcium-mediated signaling, regulation of vasoconstriction, regulation of vasoconstriction, regulation of vasoconstriction, positive regulation of cholesterol esterification, positive regulation of macrophage derived foam cell differentiation, Rho protein signal transduction, positive regulation of cytosolic calcium ion concentration, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, regulation of systemic arterial blood pressure by renin-angiotensin, maintenance of blood vessel diameter homeostasis by renin-angiotensin, renin-angiotensin regulation of aldosterone production, kidney development, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000144893 chr3 151085697 151437072 + MED12L protein_coding The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]. 116931 GO:0016592, mediator complex, GO:0008013, GO:0005515, GO:0003713, beta-catenin binding, protein binding, transcription coactivator activity, GO:1903508, GO:0006357, positive regulation of nucleic acid-templated transcription, regulation of transcription by RNA polymerase II, 15 42 31 18 29 20 14 22 12 ENSG00000144895 chr3 150546678 150584242 + EIF2A protein_coding This gene encodes a eukaryotic translation initiation factor that catalyzes the formation of puromycin-sensitive 80 S preinitiation complexes and the poly(U)-directed synthesis of polyphenylalanine at low concentrations of Mg2+. This gene should not be confused with eIF2-alpha (EIF2S1, Gene ID: 1965), the alpha subunit of the eIF2 translation initiation complex. Although both of these proteins function in binding initiator tRNA to the 40 S ribosomal subunit, the encoded protein does so in a codon-dependent manner, whereas eIF2 complex requires GTP. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 83939 GO:0072562, GO:0022627, GO:0005850, GO:0005737, GO:0005615, blood microparticle, cytosolic small ribosomal subunit, eukaryotic translation initiation factor 2 complex, cytoplasm, extracellular space, GO:0045296, GO:0043022, GO:0043022, GO:0005515, GO:0003743, GO:0003743, GO:0003729, GO:0000049, GO:0000049, cadherin binding, ribosome binding, ribosome binding, protein binding, translation initiation factor activity, translation initiation factor activity, mRNA binding, tRNA binding, tRNA binding, GO:1990928, GO:0042255, GO:0032933, GO:0009967, GO:0006468, GO:0006417, GO:0006413, response to amino acid starvation, ribosome assembly, SREBP signaling pathway, positive regulation of signal transduction, protein phosphorylation, regulation of translation, translational initiation, 184 128 215 317 164 279 253 133 170 ENSG00000144908 chr3 126103562 126197994 - ALDH1L1 protein_coding The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 10840 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0016742, GO:0016155, GO:0004029, GO:0003824, hydroxymethyl-, formyl- and related transferase activity, formyltetrahydrofolate dehydrogenase activity, aldehyde dehydrogenase (NAD+) activity, catalytic activity, GO:0055114, GO:0046655, GO:0009258, GO:0009058, GO:0006730, oxidation-reduction process, folic acid metabolic process, 10-formyltetrahydrofolate catabolic process, biosynthetic process, one-carbon metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000144909 chr3 125528858 125595090 - OSBPL11 protein_coding This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008]. 114885 GO:0043231, GO:0031902, GO:0016020, GO:0005829, GO:0005794, GO:0005654, intracellular membrane-bounded organelle, late endosome membrane, membrane, cytosol, Golgi apparatus, nucleoplasm, GO:0032934, GO:0015248, GO:0005515, sterol binding, sterol transporter activity, protein binding, GO:0045444, GO:0015918, GO:0010890, fat cell differentiation, sterol transport, positive regulation of sequestering of triglyceride, 1192 1214 1294 459 1025 660 594 869 644 ENSG00000144935 chr3 142724074 142807888 + TRPC1 protein_coding The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 7220 GO:0043235, GO:0034703, GO:0005887, GO:0005886, GO:0005886, receptor complex, cation channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0070679, GO:0070679, GO:0051117, GO:0015279, GO:0005515, GO:0005262, GO:0005261, GO:0005102, inositol 1,4,5 trisphosphate binding, inositol 1,4,5 trisphosphate binding, ATPase binding, store-operated calcium channel activity, protein binding, calcium channel activity, cation channel activity, signaling receptor binding, GO:1903779, GO:0070588, GO:0070588, GO:0051592, GO:0051480, GO:0051480, GO:0051281, GO:0042438, GO:0006828, GO:0006816, regulation of cardiac conduction, calcium ion transmembrane transport, calcium ion transmembrane transport, response to calcium ion, regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, positive regulation of release of sequestered calcium ion into cytosol, melanin biosynthetic process, manganese ion transport, calcium ion transport, 5 0 14 8 3 25 26 0 7 ENSG00000144959 chr3 172630249 172711218 - NCEH1 protein_coding 57552 GO:0016021, GO:0016020, GO:0005886, GO:0005789, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, GO:0016787, GO:0004771, hydrolase activity, sterol esterase activity, GO:0046485, GO:0034383, GO:0016042, ether lipid metabolic process, low-density lipoprotein particle clearance, lipid catabolic process, 5 14 6 9 21 20 1 4 13 ENSG00000144962 chr3 172889358 173141268 - SPATA16 protein_coding This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]. 83893 GO:0005794, GO:0005794, Golgi apparatus, Golgi apparatus, GO:0003674, molecular_function, GO:0030154, GO:0008150, GO:0007283, GO:0007275, cell differentiation, biological_process, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000145002 chr8 12425614 12436343 - FAM86B2 protein_coding 653333 GO:0032991, protein-containing complex, GO:0008168, GO:0005515, methyltransferase activity, protein binding, GO:0032259, GO:0008150, methylation, biological_process, 0 3 0 2 2 4 0 0 0 ENSG00000145012 chr3 188153284 188890671 + LPP protein_coding This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 4026 GO:0005925, GO:0005925, GO:0005925, GO:0005886, GO:0005829, GO:0005634, GO:0001725, focal adhesion, focal adhesion, focal adhesion, plasma membrane, cytosol, nucleus, stress fiber, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0098609, GO:0008150, cell-cell adhesion, biological_process, 1266 1711 1363 726 1390 1278 966 1010 1103 ENSG00000145014 chr3 194587673 194633689 - TMEM44 protein_coding 93109 GO:0016021, integral component of membrane, 18 14 14 26 16 11 13 4 10 ENSG00000145016 chr3 197671393 197749727 - RUBCN protein_coding The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. 9711 GO:0043231, GO:0043231, GO:0005829, GO:0005794, GO:0005770, GO:0005770, GO:0005769, GO:0005769, GO:0005764, GO:0005654, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, cytosol, Golgi apparatus, late endosome, late endosome, early endosome, early endosome, lysosome, nucleoplasm, GO:1901981, GO:0005515, phosphatidylinositol phosphate binding, protein binding, GO:1901097, GO:1901097, GO:1901097, GO:0071985, GO:0045806, GO:0045806, GO:0043553, GO:0043553, GO:0010507, GO:0006914, GO:0006909, GO:0006897, GO:0002376, negative regulation of autophagosome maturation, negative regulation of autophagosome maturation, negative regulation of autophagosome maturation, multivesicular body sorting pathway, negative regulation of endocytosis, negative regulation of endocytosis, negative regulation of phosphatidylinositol 3-kinase activity, negative regulation of phosphatidylinositol 3-kinase activity, negative regulation of autophagy, autophagy, phagocytosis, endocytosis, immune system process, 341 379 474 360 429 431 403 307 295 ENSG00000145020 chr3 49416775 49422753 - AMT protein_coding This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 275 GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, nucleoplasm, GO:0008483, GO:0004047, GO:0004047, GO:0004047, transaminase activity, aminomethyltransferase activity, aminomethyltransferase activity, aminomethyltransferase activity, GO:0019464, GO:0019464, GO:0006546, glycine decarboxylation via glycine cleavage system, glycine decarboxylation via glycine cleavage system, glycine catabolic process, 2 3 4 1 2 21 3 5 1 ENSG00000145022 chr3 49412206 49416475 + TCTA protein_coding 6988 GO:0016021, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0072675, GO:0072675, GO:0045671, osteoclast fusion, osteoclast fusion, negative regulation of osteoclast differentiation, 175 234 264 48 124 162 62 113 99 ENSG00000145029 chr3 49422946 49429326 - NICN1 protein_coding This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jul 2008]. 84276 GO:0005874, GO:0005654, GO:0005654, microtubule, nucleoplasm, nucleoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000145040 chr3 48561727 48563773 - UCN2 protein_coding This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008]. 90226 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0051431, GO:0051429, GO:0051429, GO:0042562, GO:0005179, corticotropin-releasing hormone receptor 2 binding, corticotropin-releasing hormone receptor binding, corticotropin-releasing hormone receptor binding, hormone binding, hormone activity, GO:0031669, GO:0009755, GO:0009755, GO:0007586, GO:0007189, GO:0007189, cellular response to nutrient levels, hormone-mediated signaling pathway, hormone-mediated signaling pathway, digestion, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, 0 0 0 0 2 0 0 0 0 ENSG00000145041 chr3 51395867 51500002 - DCAF1 protein_coding 9730 GO:0080008, GO:0080008, GO:0008180, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0001650, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, COP9 signalosome, cytoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, GO:1990244, GO:1990244, GO:0106311, GO:0106310, GO:0030331, GO:0030331, GO:0005524, GO:0005515, histone kinase activity (H2A-T120 specific), histone kinase activity (H2A-T120 specific), protein threonine kinase activity, protein serine kinase activity, estrogen receptor binding, estrogen receptor binding, ATP binding, protein binding, GO:1990245, GO:1990245, GO:0035212, GO:0033151, GO:0030183, GO:0016567, GO:0016032, GO:0000122, histone H2A-T120 phosphorylation, histone H2A-T120 phosphorylation, cell competition in a multicellular organism, V(D)J recombination, B cell differentiation, protein ubiquitination, viral process, negative regulation of transcription by RNA polymerase II, 184 145 402 175 134 242 163 112 168 ENSG00000145050 chr3 51385047 51389397 + MANF protein_coding The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014]. 7873 GO:0048471, GO:0033018, GO:0005829, GO:0005788, GO:0005783, GO:0005634, GO:0005615, GO:0005576, perinuclear region of cytoplasm, sarcoplasmic reticulum lumen, cytosol, endoplasmic reticulum lumen, endoplasmic reticulum, nucleus, extracellular space, extracellular region, GO:0120146, GO:0008083, GO:0005515, GO:0003723, sulfatide binding, growth factor activity, protein binding, RNA binding, GO:1905897, GO:0071542, GO:0031175, GO:0007165, GO:0006986, GO:0002576, regulation of response to endoplasmic reticulum stress, dopaminergic neuron differentiation, neuron projection development, signal transduction, response to unfolded protein, platelet degranulation, 77 53 124 111 104 158 131 99 83 ENSG00000145063 chr2 11105317 11132821 - FLJ33534 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000145075 chr3 180614008 180870933 - CCDC39 protein_coding 5 2 6 15 3 17 7 9 7 ENSG00000145087 chr3 120908072 121424761 + STXBP5L protein_coding The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]. 9515 GO:0098992, GO:0031594, GO:0031201, GO:0005886, GO:0005737, neuronal dense core vesicle, neuromuscular junction, SNARE complex, plasma membrane, cytoplasm, GO:0045159, GO:0031267, GO:0019905, GO:0005515, GO:0005096, myosin II binding, small GTPase binding, syntaxin binding, protein binding, GTPase activator activity, GO:2000300, GO:0050708, GO:0046676, GO:0043547, GO:0042593, GO:0017157, GO:0015031, GO:0006887, regulation of synaptic vesicle exocytosis, regulation of protein secretion, negative regulation of insulin secretion, positive regulation of GTPase activity, glucose homeostasis, regulation of exocytosis, protein transport, exocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000145088 chr3 121835183 121886526 + EAF2 protein_coding 55840 GO:0032783, GO:0016607, GO:0008023, GO:0005654, super elongation complex, nuclear speck, transcription elongation factor complex, nucleoplasm, GO:0005515, GO:0003711, protein binding, transcription elongation regulator activity, GO:0060770, GO:0045944, GO:0034243, GO:0030308, GO:0006915, GO:0006368, GO:0006366, negative regulation of epithelial cell proliferation involved in prostate gland development, positive regulation of transcription by RNA polymerase II, regulation of transcription elongation from RNA polymerase II promoter, negative regulation of cell growth, apoptotic process, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 31 12 27 17 31 17 11 33 25 ENSG00000145103 chr3 121987323 122022258 - ILDR1 protein_coding This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 286676 GO:0061689, GO:0032991, GO:0016021, GO:0005886, GO:0005829, tricellular tight junction, protein-containing complex, integral component of membrane, plasma membrane, cytosol, GO:0070506, GO:0042802, high-density lipoprotein particle receptor activity, identical protein binding, GO:1990830, GO:0090277, GO:0006897, cellular response to leukemia inhibitory factor, positive regulation of peptide hormone secretion, endocytosis, 0 0 0 0 0 1 0 1 0 ENSG00000145107 chr3 196319342 196338503 - TM4SF19 protein_coding The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]. 116211 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 1 4 6 9 3 0 0 ENSG00000145113 chr3 195746765 195812277 - MUC4 protein_coding The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]. 4585 GO:0070062, GO:0031982, GO:0031012, GO:0016020, GO:0005887, GO:0005886, GO:0005796, GO:0005615, GO:0005615, extracellular exosome, vesicle, extracellular matrix, membrane, integral component of plasma membrane, plasma membrane, Golgi lumen, extracellular space, extracellular space, GO:0030197, GO:0005176, extracellular matrix constituent, lubricant activity, ErbB-2 class receptor binding, GO:0030277, GO:0016266, GO:0010469, GO:0007160, GO:0002223, maintenance of gastrointestinal epithelium, O-glycan processing, regulation of signaling receptor activity, cell-matrix adhesion, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000145147 chr4 20253260 20620561 + SLIT2 protein_coding This gene encodes a member of the slit family of secreted glycoproteins, which are ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. Members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Proteolytic processing of this protein gives rise to an N-terminal fragment that contains the four leucine-rich repeats and five epidermal growth factor repeats and a C-terminal fragment that contains four epidermal growth factor repeats and the cysteine knot. Both full length and cleaved proteins are secreted extracellularly and can function in axon repulsion as well as other specific processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 9353 GO:0070062, GO:0016020, GO:0005886, GO:0005737, GO:0005615, GO:0005576, extracellular exosome, membrane, plasma membrane, cytoplasm, extracellular space, extracellular region, GO:0048495, GO:0048495, GO:0043394, GO:0043237, GO:0042803, GO:0042802, GO:0008201, GO:0008201, GO:0005515, GO:0005509, GO:0005095, Roundabout binding, Roundabout binding, proteoglycan binding, laminin-1 binding, protein homodimerization activity, identical protein binding, heparin binding, heparin binding, protein binding, calcium ion binding, GTPase inhibitor activity, GO:0090288, GO:0090260, GO:0090027, GO:0090024, GO:0071676, GO:0071672, GO:0071504, GO:0070100, GO:0061364, GO:0060412, GO:0051414, GO:0051058, GO:0050929, GO:0050919, GO:0050919, GO:0050919, GO:0050772, GO:0048846, GO:0048754, GO:0048754, GO:0043116, GO:0043065, GO:0035385, GO:0035385, GO:0034260, GO:0032870, GO:0031290, GO:0031290, GO:0030837, GO:0030336, GO:0030336, GO:0030308, GO:0030308, GO:0021972, GO:0021836, GO:0021834, GO:0014912, GO:0010596, GO:0010593, GO:0008045, GO:0007411, GO:0007411, GO:0007411, GO:0003184, GO:0003180, GO:0002689, GO:0002042, GO:0001933, GO:0001657, negative regulation of cellular response to growth factor stimulus, negative regulation of retinal ganglion cell axon guidance, negative regulation of monocyte chemotaxis, negative regulation of neutrophil chemotaxis, negative regulation of mononuclear cell migration, negative regulation of smooth muscle cell chemotaxis, cellular response to heparin, negative regulation of chemokine-mediated signaling pathway, apoptotic process involved in luteolysis, ventricular septum morphogenesis, response to cortisol, negative regulation of small GTPase mediated signal transduction, induction of negative chemotaxis, negative chemotaxis, negative chemotaxis, negative chemotaxis, positive regulation of axonogenesis, axon extension involved in axon guidance, branching morphogenesis of an epithelial tube, branching morphogenesis of an epithelial tube, negative regulation of vascular permeability, positive regulation of apoptotic process, Roundabout signaling pathway, Roundabout signaling pathway, negative regulation of GTPase activity, cellular response to hormone stimulus, retinal ganglion cell axon guidance, retinal ganglion cell axon guidance, negative regulation of actin filament polymerization, negative regulation of cell migration, negative regulation of cell migration, negative regulation of cell growth, negative regulation of cell growth, corticospinal neuron axon guidance through spinal cord, chemorepulsion involved in postnatal olfactory bulb interneuron migration, chemorepulsion involved in embryonic olfactory bulb interneuron precursor migration, negative regulation of smooth muscle cell migration, negative regulation of endothelial cell migration, negative regulation of lamellipodium assembly, motor neuron axon guidance, axon guidance, axon guidance, axon guidance, pulmonary valve morphogenesis, aortic valve morphogenesis, negative regulation of leukocyte chemotaxis, cell migration involved in sprouting angiogenesis, negative regulation of protein phosphorylation, ureteric bud development, 0 0 0 0 0 0 0 0 0 ENSG00000145191 chr3 184135038 184146112 + EIF2B5 protein_coding This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]. 8893 GO:0005851, GO:0005851, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, eukaryotic translation initiation factor 2B complex, eukaryotic translation initiation factor 2B complex, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0031369, GO:0031369, GO:0005515, GO:0005085, GO:0005085, GO:0005085, GO:0005085, GO:0003743, GO:0003743, translation initiation factor binding, translation initiation factor binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, translation initiation factor activity, translation initiation factor activity, GO:0050852, GO:0048708, GO:0045948, GO:0043434, GO:0043065, GO:0042552, GO:0034976, GO:0021766, GO:0014003, GO:0014002, GO:0010226, GO:0009749, GO:0009408, GO:0009408, GO:0009408, GO:0007568, GO:0006413, GO:0001541, T cell receptor signaling pathway, astrocyte differentiation, positive regulation of translational initiation, response to peptide hormone, positive regulation of apoptotic process, myelination, response to endoplasmic reticulum stress, hippocampus development, oligodendrocyte development, astrocyte development, response to lithium ion, response to glucose, response to heat, response to heat, response to heat, aging, translational initiation, ovarian follicle development, 107 112 153 181 125 172 134 115 147 ENSG00000145192 chr3 186612923 186621318 + AHSG protein_coding The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]. 197 GO:0072562, GO:0070062, GO:0062023, GO:0034774, GO:0031093, GO:0031012, GO:0005794, GO:0005788, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, secretory granule lumen, platelet alpha granule lumen, extracellular matrix, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, extracellular region, GO:0019210, GO:0004869, GO:0004866, kinase inhibitor activity, cysteine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0050766, GO:0050727, GO:0046627, GO:0044267, GO:0043687, GO:0043312, GO:0033673, GO:0030502, GO:0030500, GO:0010951, GO:0006953, GO:0006907, GO:0002576, GO:0001501, positive regulation of phagocytosis, regulation of inflammatory response, negative regulation of insulin receptor signaling pathway, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, negative regulation of kinase activity, negative regulation of bone mineralization, regulation of bone mineralization, negative regulation of endopeptidase activity, acute-phase response, pinocytosis, platelet degranulation, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000145194 chr3 184276011 184293031 + ECE2 protein_coding 9718 GO:0030659, GO:0030658, GO:0030658, GO:0016021, GO:0005886, GO:0000139, cytoplasmic vesicle membrane, transport vesicle membrane, transport vesicle membrane, integral component of membrane, plasma membrane, Golgi membrane, GO:0046872, GO:0008168, GO:0004222, GO:0004222, GO:0004222, metal ion binding, methyltransferase activity, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0032259, GO:0016486, GO:0016485, GO:0007267, methylation, peptide hormone processing, protein processing, cell-cell signaling, 0 0 0 0 0 0 0 0 0 ENSG00000145198 chr3 184230429 184242329 + VWA5B2 protein_coding 90113 0 0 0 0 0 2 0 2 0 ENSG00000145214 chr4 958887 986895 - DGKQ protein_coding The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]. 1609 GO:0045202, GO:0016607, GO:0016363, GO:0012506, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005768, GO:0005737, GO:0005634, synapse, nuclear speck, nuclear matrix, vesicle membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, endosome, cytoplasm, nucleus, GO:0046872, GO:0043274, GO:0033613, GO:0030297, GO:0019900, GO:0005524, GO:0005515, GO:0004143, GO:0004143, GO:0004143, GO:0004143, GO:0003951, metal ion binding, phospholipase binding, activating transcription factor binding, transmembrane receptor protein tyrosine kinase activator activity, kinase binding, ATP binding, protein binding, diacylglycerol kinase activity, diacylglycerol kinase activity, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:2000182, GO:2000064, GO:1903432, GO:0090181, GO:0070528, GO:0070493, GO:0051591, GO:0050731, GO:0046834, GO:0046834, GO:0046486, GO:0046339, GO:0046339, GO:0035556, GO:0033198, GO:0030168, GO:0019933, GO:0019933, GO:0018105, GO:0010801, GO:0010801, GO:0010629, GO:0010628, GO:0008277, GO:0007205, GO:0007186, GO:0007171, GO:0006654, GO:0006654, GO:0006357, GO:0006111, regulation of progesterone biosynthetic process, regulation of cortisol biosynthetic process, regulation of TORC1 signaling, regulation of cholesterol metabolic process, protein kinase C signaling, thrombin-activated receptor signaling pathway, response to cAMP, positive regulation of peptidyl-tyrosine phosphorylation, lipid phosphorylation, lipid phosphorylation, glycerolipid metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, intracellular signal transduction, response to ATP, platelet activation, cAMP-mediated signaling, cAMP-mediated signaling, peptidyl-serine phosphorylation, negative regulation of peptidyl-threonine phosphorylation, negative regulation of peptidyl-threonine phosphorylation, negative regulation of gene expression, positive regulation of gene expression, regulation of G protein-coupled receptor signaling pathway, protein kinase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, activation of transmembrane receptor protein tyrosine kinase activity, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, regulation of transcription by RNA polymerase II, regulation of gluconeogenesis, 240 161 168 137 99 171 199 124 124 ENSG00000145216 chr4 53377643 53460861 + FIP1L1 protein_coding This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. 81608 GO:0005847, GO:0005654, GO:0005654, mRNA cleavage and polyadenylation specificity factor complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0098789, GO:0031124, GO:0006406, GO:0006378, GO:0006369, GO:0000398, pre-mRNA cleavage required for polyadenylation, mRNA 3'-end processing, mRNA export from nucleus, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 153 176 189 103 179 124 116 146 133 ENSG00000145217 chr4 979073 993440 - SLC26A1 protein_coding This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]. 10861 GO:0016323, GO:0016021, GO:0005887, GO:0005886, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0019531, GO:0019531, GO:0015301, GO:0015301, GO:0015116, GO:0015116, GO:0015108, GO:0015108, GO:0015106, GO:0008271, oxalate transmembrane transporter activity, oxalate transmembrane transporter activity, anion:anion antiporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, GO:1902476, GO:1902358, GO:0050428, GO:0019532, GO:0015701, GO:0008272, GO:0006821, GO:0006811, chloride transmembrane transport, sulfate transmembrane transport, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, oxalate transport, bicarbonate transport, sulfate transport, chloride transport, ion transport, 9 0 4 11 2 15 8 0 22 ENSG00000145220 chr4 4267701 4290169 - LYAR protein_coding 55646 GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005634, GO:0001750, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleus, photoreceptor outer segment, GO:0140416, GO:0046872, GO:0042802, GO:0033613, GO:0005515, GO:0003723, GO:0003677, GO:0003677, transcription regulator inhibitor activity, metal ion binding, identical protein binding, activating transcription factor binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0050766, GO:0048821, GO:0045943, GO:0045824, GO:0045087, GO:0006364, GO:0006364, GO:0000122, GO:0000122, GO:0000122, positive regulation of phagocytosis, erythrocyte development, positive regulation of transcription by RNA polymerase I, negative regulation of innate immune response, innate immune response, rRNA processing, rRNA processing, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 59 54 73 149 53 121 76 74 83 ENSG00000145241 chr4 67468748 67545606 - CENPC protein_coding Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]. 1060 GO:0030496, GO:0016604, GO:0005829, GO:0005721, GO:0005654, GO:0005654, GO:0000779, GO:0000778, GO:0000776, midbody, nuclear body, cytosol, pericentric heterochromatin, nucleoplasm, nucleoplasm, condensed chromosome, centromeric region, condensed nuclear chromosome kinetochore, kinetochore, GO:0042802, GO:0019237, GO:0005515, GO:0003677, identical protein binding, centromeric DNA binding, protein binding, DNA binding, GO:0051455, GO:0051382, GO:0051382, GO:0051315, GO:0051301, GO:0034080, GO:0007059, GO:0000278, monopolar spindle attachment to meiosis I kinetochore, kinetochore assembly, kinetochore assembly, attachment of mitotic spindle microtubules to kinetochore, cell division, CENP-A containing nucleosome assembly, chromosome segregation, mitotic cell cycle, 197 208 463 235 157 363 200 157 225 ENSG00000145242 chr4 65319563 65670495 - EPHA5 protein_coding This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]. 2044 GO:0048471, GO:0043235, GO:0043025, GO:0043005, GO:0030425, GO:0030424, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005791, perinuclear region of cytoplasm, receptor complex, neuronal cell body, neuron projection, dendrite, axon, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, rough endoplasmic reticulum, GO:0005524, GO:0005005, GO:0005005, GO:0005004, GO:0005003, GO:0004714, ATP binding, transmembrane-ephrin receptor activity, transmembrane-ephrin receptor activity, GPI-linked ephrin receptor activity, ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:0061178, GO:0048666, GO:0048013, GO:0048013, GO:0043087, GO:0033674, GO:0032956, GO:0032793, GO:0021766, GO:0021766, GO:0019933, GO:0018108, GO:0007411, GO:0007411, GO:0007275, GO:0007169, regulation of insulin secretion involved in cellular response to glucose stimulus, neuron development, ephrin receptor signaling pathway, ephrin receptor signaling pathway, regulation of GTPase activity, positive regulation of kinase activity, regulation of actin cytoskeleton organization, positive regulation of CREB transcription factor activity, hippocampus development, hippocampus development, cAMP-mediated signaling, peptidyl-tyrosine phosphorylation, axon guidance, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000145244 chr4 47593998 47838106 - CORIN protein_coding This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]. 10699 GO:0016604, GO:0016021, GO:0015629, GO:0005886, GO:0005886, GO:0005576, nuclear body, integral component of membrane, actin cytoskeleton, plasma membrane, plasma membrane, extracellular region, GO:0005515, GO:0004252, GO:0004252, GO:0004175, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, endopeptidase activity, GO:1903779, GO:0035813, GO:0016486, GO:0008217, GO:0007565, GO:0003050, GO:0003050, regulation of cardiac conduction, regulation of renal sodium excretion, peptide hormone processing, regulation of blood pressure, female pregnancy, regulation of systemic arterial blood pressure by atrial natriuretic peptide, regulation of systemic arterial blood pressure by atrial natriuretic peptide, 11 15 7 22 27 22 15 17 13 ENSG00000145246 chr4 47485288 47593486 + ATP10D protein_coding 57205 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005654, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, GO:0140326, GO:0140326, GO:0005524, GO:0005515, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATPase-coupled intramembrane lipid transporter activity, ATP binding, protein binding, magnesium ion binding, GO:0045332, GO:0045332, GO:0034220, GO:0006812, phospholipid translocation, phospholipid translocation, ion transmembrane transport, cation transport, 98 79 108 81 85 101 85 64 66 ENSG00000145247 chr4 48885019 48906937 - OCIAD2 protein_coding 132299 GO:0005794, GO:0005768, GO:0005764, Golgi apparatus, endosome, lysosome, GO:1902037, GO:0046427, GO:0019731, negative regulation of hematopoietic stem cell differentiation, positive regulation of receptor signaling pathway via JAK-STAT, antibacterial humoral response, 20 20 38 64 19 47 31 24 29 ENSG00000145248 chr4 48483343 48489196 + SLC10A4 protein_coding 201780 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0008508, GO:0005515, bile acid:sodium symporter activity, protein binding, GO:0055085, GO:0015721, GO:0006814, transmembrane transport, bile acid and bile salt transport, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000145283 chr4 86823468 86849263 - SLC10A6 protein_coding 345274 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0043250, GO:0008508, GO:0008508, GO:0005515, sodium-dependent organic anion transmembrane transporter activity, bile acid:sodium symporter activity, bile acid:sodium symporter activity, protein binding, GO:0055085, GO:0043251, GO:0015721, GO:0006814, transmembrane transport, sodium-dependent organic anion transport, bile acid and bile salt transport, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000145284 chr4 82629539 82798857 - SCD5 protein_coding Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]. 79966 GO:0016021, GO:0005789, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0016491, GO:0005506, GO:0004768, GO:0004768, oxidoreductase activity, iron ion binding, stearoyl-CoA 9-desaturase activity, stearoyl-CoA 9-desaturase activity, GO:1903966, GO:0055114, GO:0046949, GO:0006636, GO:0006636, monounsaturated fatty acid biosynthetic process, oxidation-reduction process, fatty-acyl-CoA biosynthetic process, unsaturated fatty acid biosynthetic process, unsaturated fatty acid biosynthetic process, 0 3 10 2 11 28 1 9 17 ENSG00000145287 chr4 83090048 83137075 - PLAC8 protein_coding 51316 GO:0035578, GO:0005576, azurophil granule lumen, extracellular region, GO:0003682, chromatin binding, GO:0120162, GO:0050873, GO:0045944, GO:0043312, GO:0043066, GO:0042742, GO:0040015, GO:0009409, GO:0008284, positive regulation of cold-induced thermogenesis, brown fat cell differentiation, positive regulation of transcription by RNA polymerase II, neutrophil degranulation, negative regulation of apoptotic process, defense response to bacterium, negative regulation of multicellular organism growth, response to cold, positive regulation of cell population proliferation, 63 61 72 130 63 147 125 85 132 ENSG00000145293 chr4 82430562 82461091 + ENOPH1 protein_coding 58478 GO:0005829, GO:0005634, cytosol, nucleus, GO:0043874, GO:0043874, GO:0043716, GO:0043715, GO:0005515, GO:0000287, acireductone synthase activity, acireductone synthase activity, 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity, 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity, protein binding, magnesium ion binding, GO:0019509, GO:0019509, GO:0019509, GO:0019509, GO:0019284, GO:0016311, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from S-adenosylmethionine, dephosphorylation, 17 12 31 94 28 54 50 21 54 ENSG00000145309 chr4 70334966 70337116 + CABS1 protein_coding 85438 GO:0031514, GO:0031514, GO:0005743, motile cilium, motile cilium, mitochondrial inner membrane, GO:0005509, GO:0005509, calcium ion binding, calcium ion binding, GO:0007283, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000145321 chr4 71741693 71804041 - GC protein_coding The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]. 2638 GO:0072562, GO:0070062, GO:0043202, GO:0005829, GO:0005737, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, lysosomal lumen, cytosol, cytoplasm, extracellular space, extracellular region, extracellular region, GO:1902118, GO:0090482, GO:0005499, GO:0003779, calcidiol binding, vitamin transmembrane transporter activity, vitamin D binding, actin binding, GO:0051180, GO:0042359, GO:0035461, GO:0006810, vitamin transport, vitamin D metabolic process, vitamin transmembrane transport, transport, 0 0 0 0 0 0 0 0 0 ENSG00000145331 chr4 99546709 99564032 - TRMT10A protein_coding This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 93587 GO:0070062, GO:0015629, GO:0005829, GO:0005829, GO:0005739, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, actin cytoskeleton, cytosol, cytosol, mitochondrion, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0052905, GO:0009019, GO:0009019, GO:0005515, GO:0003723, GO:0000049, GO:0000049, tRNA (guanine(9)-N(1))-methyltransferase activity, tRNA (guanine-N1-)-methyltransferase activity, tRNA (guanine-N1-)-methyltransferase activity, protein binding, RNA binding, tRNA binding, tRNA binding, GO:0090646, GO:0030488, GO:0002939, mitochondrial tRNA processing, tRNA methylation, tRNA N1-guanine methylation, 28 23 47 20 38 38 31 35 6 ENSG00000145332 chr4 87160103 87240314 - KLHL8 protein_coding 57563 GO:0031463, GO:0005654, Cul3-RING ubiquitin ligase complex, nucleoplasm, GO:0016567, GO:0016567, GO:0006511, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, 234 268 195 122 281 181 175 198 142 ENSG00000145335 chr4 89724099 89838315 - SNCA protein_coding Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]. 6622 GO:0099512, GO:0098794, GO:0048471, GO:0043679, GO:0043195, GO:0043025, GO:0032991, GO:0031092, GO:0030672, GO:0030426, GO:0030424, GO:0016234, GO:0016020, GO:0015629, GO:0005938, GO:0005886, GO:0005840, GO:0005829, GO:0005829, GO:0005794, GO:0005791, GO:0005764, GO:0005759, GO:0005758, GO:0005743, GO:0005741, GO:0005739, GO:0005737, GO:0005737, GO:0005640, GO:0005634, GO:0005615, GO:0005576, GO:0005576, supramolecular fiber, postsynapse, perinuclear region of cytoplasm, axon terminus, terminal bouton, neuronal cell body, protein-containing complex, platelet alpha granule membrane, synaptic vesicle membrane, growth cone, axon, inclusion body, membrane, actin cytoskeleton, cell cortex, plasma membrane, ribosome, cytosol, cytosol, Golgi apparatus, rough endoplasmic reticulum, lysosome, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, cytoplasm, nuclear outer membrane, nucleus, extracellular space, extracellular region, extracellular region, GO:1903136, GO:1903136, GO:0070840, GO:0060961, GO:0051219, GO:0048487, GO:0048156, GO:0047485, GO:0043274, GO:0043027, GO:0043014, GO:0042802, GO:0042802, GO:0042393, GO:0030544, GO:0019904, GO:0019894, GO:0016491, GO:0008270, GO:0008198, GO:0008017, GO:0005543, GO:0005515, GO:0005509, GO:0005507, GO:0005504, GO:0004860, GO:0003779, GO:0000976, GO:0000287, GO:0000149, cuprous ion binding, cuprous ion binding, dynein complex binding, phospholipase D inhibitor activity, phosphoprotein binding, beta-tubulin binding, tau protein binding, protein N-terminus binding, phospholipase binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, alpha-tubulin binding, identical protein binding, identical protein binding, histone binding, Hsp70 protein binding, protein domain specific binding, kinesin binding, oxidoreductase activity, zinc ion binding, ferrous iron binding, microtubule binding, phospholipid binding, protein binding, calcium ion binding, copper ion binding, fatty acid binding, protein kinase inhibitor activity, actin binding, transcription regulatory region sequence-specific DNA binding, magnesium ion binding, SNARE binding, GO:1905606, GO:1904715, GO:1904307, GO:1903426, GO:1903421, GO:1903285, GO:1903284, GO:1902957, GO:1901216, GO:1901215, GO:1901214, GO:0097435, GO:0071902, GO:0071872, GO:0071280, GO:0070555, GO:0070495, GO:0060732, GO:0060291, GO:0060079, GO:0055114, GO:0055074, GO:0051622, GO:0051621, GO:0051612, GO:0051585, GO:0051583, GO:0051281, GO:0051262, GO:0050812, GO:0050808, GO:0050729, GO:0048489, GO:0048488, GO:0048488, GO:0048169, GO:0048148, GO:0045963, GO:0045921, GO:0045920, GO:0045807, GO:0044344, GO:0044267, GO:0043524, GO:0043154, GO:0043066, GO:0043065, GO:0043030, GO:0042775, GO:0042493, GO:0042416, GO:0040012, GO:0035543, GO:0035493, GO:0035067, GO:0034599, GO:0034341, GO:0033138, GO:0032769, GO:0032496, GO:0032410, GO:0032026, GO:0031648, GO:0031623, GO:0031115, GO:0022898, GO:0016082, GO:0016079, GO:0014059, GO:0014048, GO:0010642, GO:0010517, GO:0010040, GO:0008344, GO:0007568, GO:0007268, GO:0007006, GO:0006919, GO:0006915, GO:0006644, GO:0006638, GO:0006631, GO:0006469, GO:0001956, GO:0001921, GO:0001774, GO:0000122, regulation of presynapse assembly, negative regulation of chaperone-mediated autophagy, response to desipramine, regulation of reactive oxygen species biosynthetic process, regulation of synaptic vesicle recycling, positive regulation of hydrogen peroxide catabolic process, positive regulation of glutathione peroxidase activity, negative regulation of mitochondrial electron transport, NADH to ubiquinone, positive regulation of neuron death, negative regulation of neuron death, regulation of neuron death, supramolecular fiber organization, positive regulation of protein serine/threonine kinase activity, cellular response to epinephrine stimulus, cellular response to copper ion, response to interleukin-1, negative regulation of thrombin-activated receptor signaling pathway, positive regulation of inositol phosphate biosynthetic process, long-term synaptic potentiation, excitatory postsynaptic potential, oxidation-reduction process, calcium ion homeostasis, negative regulation of norepinephrine uptake, regulation of norepinephrine uptake, negative regulation of serotonin uptake, negative regulation of dopamine uptake involved in synaptic transmission, dopamine uptake involved in synaptic transmission, positive regulation of release of sequestered calcium ion into cytosol, protein tetramerization, regulation of acyl-CoA biosynthetic process, synapse organization, positive regulation of inflammatory response, synaptic vesicle transport, synaptic vesicle endocytosis, synaptic vesicle endocytosis, regulation of long-term neuronal synaptic plasticity, behavioral response to cocaine, negative regulation of dopamine metabolic process, positive regulation of exocytosis, negative regulation of exocytosis, positive regulation of endocytosis, cellular response to fibroblast growth factor stimulus, cellular protein metabolic process, negative regulation of neuron apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of macrophage activation, mitochondrial ATP synthesis coupled electron transport, response to drug, dopamine biosynthetic process, regulation of locomotion, positive regulation of SNARE complex assembly, SNARE complex assembly, negative regulation of histone acetylation, cellular response to oxidative stress, response to interferon-gamma, positive regulation of peptidyl-serine phosphorylation, negative regulation of monooxygenase activity, response to lipopolysaccharide, negative regulation of transporter activity, response to magnesium ion, protein destabilization, receptor internalization, negative regulation of microtubule polymerization, regulation of transmembrane transporter activity, synaptic vesicle priming, synaptic vesicle exocytosis, regulation of dopamine secretion, regulation of glutamate secretion, negative regulation of platelet-derived growth factor receptor signaling pathway, regulation of phospholipase activity, response to iron(II) ion, adult locomotory behavior, aging, chemical synaptic transmission, mitochondrial membrane organization, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, phospholipid metabolic process, neutral lipid metabolic process, fatty acid metabolic process, negative regulation of protein kinase activity, positive regulation of neurotransmitter secretion, positive regulation of receptor recycling, microglial cell activation, negative regulation of transcription by RNA polymerase II, 2 0 7 16 0 7 1 2 0 ENSG00000145337 chr4 88520985 88523813 - PYURF protein_coding The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012]. 100996939 GO:0005789, GO:0005739, GO:0000506, GO:0000506, endoplasmic reticulum membrane, mitochondrion, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, GO:0005515, protein binding, GO:0009893, GO:0006506, GO:0006506, positive regulation of metabolic process, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 46 54 63 63 41 68 46 26 63 ENSG00000145348 chr4 106041599 106321495 - TBCK protein_coding This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 93627 GO:0072686, GO:0030496, GO:0005737, mitotic spindle, midbody, cytoplasm, GO:0031267, GO:0005524, GO:0005096, GO:0004672, small GTPase binding, ATP binding, GTPase activator activity, protein kinase activity, GO:0090630, GO:0032006, GO:0030036, GO:0008283, GO:0006886, GO:0006468, activation of GTPase activity, regulation of TOR signaling, actin cytoskeleton organization, cell population proliferation, intracellular protein transport, protein phosphorylation, 25 24 57 81 21 82 66 26 62 ENSG00000145349 chr4 113451032 113761927 - CAMK2D protein_coding The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]. 817 GO:0043005, GO:0042383, GO:0033017, GO:0030666, GO:0016020, GO:0005954, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, neuron projection, sarcolemma, sarcoplasmic reticulum membrane, endocytic vesicle membrane, membrane, calcium- and calmodulin-dependent protein kinase complex, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0044325, GO:0044325, GO:0042803, GO:0042802, GO:0031432, GO:0019871, GO:0005524, GO:0005516, GO:0005516, GO:0005515, GO:0004683, GO:0004683, GO:0004674, ion channel binding, ion channel binding, protein homodimerization activity, identical protein binding, titin binding, sodium channel inhibitor activity, ATP binding, calmodulin binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, GO:2000650, GO:1902514, GO:1902306, GO:1901897, GO:1901844, GO:1901725, GO:1900034, GO:0098909, GO:0098901, GO:0086091, GO:0086003, GO:0071277, GO:0060341, GO:0060333, GO:0060314, GO:0055119, GO:0046777, GO:0032469, GO:0018107, GO:0018105, GO:0010881, GO:0010881, GO:0010880, GO:0010666, GO:0010649, GO:0010613, GO:0008016, GO:0006468, GO:0006357, GO:0003254, GO:0002026, GO:0001558, negative regulation of sodium ion transmembrane transporter activity, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, negative regulation of sodium ion transmembrane transport, regulation of relaxation of cardiac muscle, regulation of cell communication by electrical coupling involved in cardiac conduction, regulation of histone deacetylase activity, regulation of cellular response to heat, regulation of cardiac muscle cell action potential involved in regulation of contraction, regulation of cardiac muscle cell action potential, regulation of heart rate by cardiac conduction, cardiac muscle cell contraction, cellular response to calcium ion, regulation of cellular localization, interferon-gamma-mediated signaling pathway, regulation of ryanodine-sensitive calcium-release channel activity, relaxation of cardiac muscle, protein autophosphorylation, endoplasmic reticulum calcium ion homeostasis, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, positive regulation of cardiac muscle cell apoptotic process, regulation of cell communication by electrical coupling, positive regulation of cardiac muscle hypertrophy, regulation of heart contraction, protein phosphorylation, regulation of transcription by RNA polymerase II, regulation of membrane depolarization, regulation of the force of heart contraction, regulation of cell growth, 26 33 64 128 50 100 84 35 60 ENSG00000145354 chr4 102868974 102892807 + CISD2 protein_coding The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]. 493856 GO:0097038, GO:0032991, GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005741, GO:0005741, perinuclear endoplasmic reticulum, protein-containing complex, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial outer membrane, mitochondrial outer membrane, GO:0051537, GO:0051537, GO:0046872, GO:0042803, GO:0005515, GO:0003723, 2 iron, 2 sulfur cluster binding, 2 iron, 2 sulfur cluster binding, metal ion binding, protein homodimerization activity, protein binding, RNA binding, GO:0010506, GO:0010259, GO:0000422, regulation of autophagy, multicellular organism aging, autophagy of mitochondrion, 35 35 54 71 61 59 50 53 43 ENSG00000145358 chr4 100185870 100190782 - DDIT4L protein_coding 115265 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0009968, negative regulation of signal transduction, 3 0 1 1 0 0 0 0 0 ENSG00000145362 chr4 112818109 113383740 + ANK2 protein_coding This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]. 287 GO:0055037, GO:0045211, GO:0043034, GO:0043005, GO:0042383, GO:0031672, GO:0031430, GO:0030315, GO:0030018, GO:0016324, GO:0016323, GO:0014704, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005769, GO:0005764, GO:0005739, recycling endosome, postsynaptic membrane, costamere, neuron projection, sarcolemma, A band, M band, T-tubule, Z disc, apical plasma membrane, basolateral plasma membrane, intercalated disc, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, early endosome, lysosome, mitochondrion, GO:0140031, GO:0051117, GO:0044325, GO:0044325, GO:0044325, GO:0030674, GO:0030507, GO:0030507, GO:0019901, GO:0019899, GO:0008093, GO:0005515, phosphorylation-dependent protein binding, ATPase binding, ion channel binding, ion channel binding, ion channel binding, protein-macromolecule adaptor activity, spectrin binding, spectrin binding, protein kinase binding, enzyme binding, cytoskeletal anchor activity, protein binding, GO:2001259, GO:1901021, GO:1901019, GO:1901018, GO:0098910, GO:0098907, GO:0086091, GO:0086091, GO:0086070, GO:0086066, GO:0086046, GO:0086015, GO:0086014, GO:0086005, GO:0086004, GO:0072659, GO:0072659, GO:0072659, GO:0070972, GO:0070296, GO:0060307, GO:0055117, GO:0051928, GO:0051924, GO:0051279, GO:0050821, GO:0043268, GO:0036371, GO:0036309, GO:0034613, GO:0034394, GO:0033365, GO:0033292, GO:0031647, GO:0015031, GO:0010882, GO:0010881, GO:0010881, GO:0010628, GO:0007010, GO:0006897, GO:0006888, GO:0006874, GO:0003283, GO:0002027, positive regulation of cation channel activity, positive regulation of calcium ion transmembrane transporter activity, regulation of calcium ion transmembrane transporter activity, positive regulation of potassium ion transmembrane transporter activity, regulation of atrial cardiac muscle cell action potential, regulation of SA node cell action potential, regulation of heart rate by cardiac conduction, regulation of heart rate by cardiac conduction, SA node cell to atrial cardiac muscle cell communication, atrial cardiac muscle cell to AV node cell communication, membrane depolarization during SA node cell action potential, SA node cell action potential, atrial cardiac muscle cell action potential, ventricular cardiac muscle cell action potential, regulation of cardiac muscle cell contraction, protein localization to plasma membrane, protein localization to plasma membrane, protein localization to plasma membrane, protein localization to endoplasmic reticulum, sarcoplasmic reticulum calcium ion transport, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of cardiac muscle contraction, positive regulation of calcium ion transport, regulation of calcium ion transport, regulation of release of sequestered calcium ion into cytosol, protein stabilization, positive regulation of potassium ion transport, protein localization to T-tubule, protein localization to M-band, cellular protein localization, protein localization to cell surface, protein localization to organelle, T-tubule organization, regulation of protein stability, protein transport, regulation of cardiac muscle contraction by calcium ion signaling, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, positive regulation of gene expression, cytoskeleton organization, endocytosis, endoplasmic reticulum to Golgi vesicle-mediated transport, cellular calcium ion homeostasis, atrial septum development, regulation of heart rate, 0 0 0 0 0 0 0 1 0 ENSG00000145365 chr4 112274542 112285903 - TIFA protein_coding This gene encodes an adapter protein involved in adaptive and innate immunity. This protein includes a forkhead-associated (FHA) domain that specifically binds to phosphorylated serine and threonine residues. In response to bacterial infection, the encoded host cell protein undergoes an intermolecular interaction between the FHA domain and a phosphorylated threonine that leads to protein oligomerization and stimulation of the NF-kappa B and other downstream signaling pathways. This protein exhibits reduced expression in hepatocellular carcinoma and may suppress hepatocellular carcinoma progression. This protein may also play a role in the DNA damage response. [provided by RefSeq, Jun 2018]. 92610 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0051260, GO:0045087, GO:0045087, GO:0043123, GO:0043123, GO:0007249, GO:0002753, GO:0002753, protein homooligomerization, innate immune response, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, I-kappaB kinase/NF-kappaB signaling, cytoplasmic pattern recognition receptor signaling pathway, cytoplasmic pattern recognition receptor signaling pathway, 149 93 409 68 81 106 90 83 100 ENSG00000145375 chr4 122923074 123319450 + SPATA5 protein_coding This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 166378 GO:0005739, GO:0005737, GO:0005737, mitochondrion, cytoplasm, cytoplasm, GO:0016887, GO:0005524, ATPase activity, ATP binding, GO:0030154, GO:0007420, GO:0007283, cell differentiation, brain development, spermatogenesis, 11 7 17 32 8 40 26 9 25 ENSG00000145384 chr4 119317250 119322390 - FABP2 protein_coding The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]. 2169 GO:0005829, cytosol, GO:0036041, GO:0005515, GO:0005504, long-chain fatty acid binding, protein binding, fatty acid binding, GO:0098856, GO:0019433, intestinal lipid absorption, triglyceride catabolic process, 0 0 1 1 0 0 0 0 0 ENSG00000145386 chr4 121816444 121823933 - CCNA2 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members function as regulators of the cell cycle. This protein binds and activates cyclin-dependent kinase 2 and thus promotes transition through G1/S and G2/M. [provided by RefSeq, Aug 2016]. 890 GO:0097124, GO:0097124, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001940, GO:0001939, GO:0000307, GO:0000307, cyclin A2-CDK2 complex, cyclin A2-CDK2 complex, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, male pronucleus, female pronucleus, cyclin-dependent protein kinase holoenzyme complex, cyclin-dependent protein kinase holoenzyme complex, GO:0019904, GO:0019901, GO:0016538, GO:0016538, GO:0005515, protein domain specific binding, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:1990314, GO:0090102, GO:0071732, GO:0071456, GO:0071392, GO:0071373, GO:0071314, GO:0051301, GO:0048146, GO:0045893, GO:0044843, GO:0044772, GO:0044320, GO:0036120, GO:0033762, GO:0031100, GO:0016579, GO:0016572, GO:0016032, GO:0007265, GO:0006275, GO:0000086, GO:0000079, cellular response to insulin-like growth factor stimulus, cochlea development, cellular response to nitric oxide, cellular response to hypoxia, cellular response to estradiol stimulus, cellular response to luteinizing hormone stimulus, cellular response to cocaine, cell division, positive regulation of fibroblast proliferation, positive regulation of transcription, DNA-templated, cell cycle G1/S phase transition, mitotic cell cycle phase transition, cellular response to leptin stimulus, cellular response to platelet-derived growth factor stimulus, response to glucagon, animal organ regeneration, protein deubiquitination, histone phosphorylation, viral process, Ras protein signal transduction, regulation of DNA replication, G2/M transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 8 4 14 17 14 11 13 11 17 ENSG00000145388 chr4 118685368 118715433 + METTL14 protein_coding 57721 GO:0036396, GO:0036396, GO:0005654, GO:0005654, GO:0005634, GO:0005634, RNA N6-methyladenosine methyltransferase complex, RNA N6-methyladenosine methyltransferase complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1904047, GO:0016422, GO:0016422, GO:0016422, GO:0005515, GO:0003729, GO:0003729, S-adenosyl-L-methionine binding, mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity, mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity, mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity, protein binding, mRNA binding, mRNA binding, GO:0080009, GO:0080009, GO:0080009, GO:0061157, GO:0042063, GO:0021861, GO:0019827, GO:0016070, GO:0007283, GO:0006402, GO:0000398, mRNA methylation, mRNA methylation, mRNA methylation, mRNA destabilization, gliogenesis, forebrain radial glial cell differentiation, stem cell population maintenance, RNA metabolic process, spermatogenesis, mRNA catabolic process, mRNA splicing, via spliceosome, 168 213 215 89 111 135 86 107 82 ENSG00000145390 chr4 119212587 119295517 + USP53 protein_coding 54532 GO:0005923, GO:0005911, GO:0005575, bicellular tight junction, cell-cell junction, cellular_component, GO:0005515, GO:0004843, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0051402, GO:0016579, GO:0010996, GO:0008150, GO:0007605, GO:0001508, neuron apoptotic process, protein deubiquitination, response to auditory stimulus, biological_process, sensory perception of sound, action potential, 201 41 91 286 59 136 242 44 124 ENSG00000145391 chr4 139495941 139606699 - SETD7 protein_coding 80854 GO:0005730, GO:0005694, GO:0005654, nucleolus, chromosome, nucleoplasm, GO:0018024, GO:0018024, GO:0016279, GO:0005515, GO:0003682, GO:0002039, histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, chromatin binding, p53 binding, GO:0070828, GO:0051570, GO:0045893, GO:0045471, GO:0034968, GO:0018027, GO:0018026, GO:0006974, GO:0006325, heterochromatin organization, regulation of histone H3-K9 methylation, positive regulation of transcription, DNA-templated, response to ethanol, histone lysine methylation, peptidyl-lysine dimethylation, peptidyl-lysine monomethylation, cellular response to DNA damage stimulus, chromatin organization, 67 61 66 79 74 73 60 28 50 ENSG00000145414 chr4 163110073 163166921 - NAF1 protein_coding 92345 GO:0005737, GO:0005732, GO:0005732, GO:0005654, GO:0005634, cytoplasm, small nucleolar ribonucleoprotein complex, small nucleolar ribonucleoprotein complex, nucleoplasm, nucleus, GO:0070034, GO:0042802, GO:0005515, GO:0003723, GO:0003723, GO:0003723, GO:0003723, telomerase RNA binding, identical protein binding, protein binding, RNA binding, RNA binding, RNA binding, RNA binding, GO:1905323, GO:1904874, GO:1904358, GO:0090669, GO:0051973, GO:0043489, GO:0042254, GO:0042254, GO:0032212, GO:0000493, GO:0000493, GO:0000493, GO:0000454, telomerase holoenzyme complex assembly, positive regulation of telomerase RNA localization to Cajal body, positive regulation of telomere maintenance via telomere lengthening, telomerase RNA stabilization, positive regulation of telomerase activity, RNA stabilization, ribosome biogenesis, ribosome biogenesis, positive regulation of telomere maintenance via telomerase, box H/ACA snoRNP assembly, box H/ACA snoRNP assembly, box H/ACA snoRNP assembly, snoRNA guided rRNA pseudouridine synthesis, 15 12 30 55 8 72 64 9 40 ENSG00000145416 chr4 163524298 164384050 - MARCH1 protein_coding MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]. 55016 GO:0032588, GO:0031902, GO:0031902, GO:0031901, GO:0031901, GO:0030659, GO:0016021, GO:0005886, GO:0005789, GO:0005768, GO:0005765, GO:0005764, GO:0005764, GO:0005737, trans-Golgi network membrane, late endosome membrane, late endosome membrane, early endosome membrane, early endosome membrane, cytoplasmic vesicle membrane, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endosome, lysosomal membrane, lysosome, lysosome, cytoplasm, GO:0061630, GO:0061630, GO:0042287, GO:0042287, GO:0008270, ubiquitin protein ligase activity, ubiquitin protein ligase activity, MHC protein binding, MHC protein binding, zinc ion binding, GO:0006955, GO:0006955, GO:0002495, GO:0002495, GO:0000209, GO:0000209, GO:0000209, immune response, immune response, antigen processing and presentation of peptide antigen via MHC class II, antigen processing and presentation of peptide antigen via MHC class II, protein polyubiquitination, protein polyubiquitination, protein polyubiquitination, 15 29 36 27 48 49 32 42 22 ENSG00000145423 chr4 153780592 153789120 - SFRP2 protein_coding This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]. 6423 GO:0062023, GO:0005615, GO:0005615, GO:0005615, collagen-containing extracellular matrix, extracellular space, extracellular space, extracellular space, GO:0061133, GO:0048018, GO:0017147, GO:0017147, GO:0005178, GO:0001968, endopeptidase activator activity, receptor ligand activity, Wnt-protein binding, Wnt-protein binding, integrin binding, fibronectin binding, GO:2000041, GO:2000035, GO:1904956, GO:1902230, GO:1902042, GO:0090263, GO:0090244, GO:0090179, GO:0090090, GO:0090090, GO:0071481, GO:0071425, GO:0061185, GO:0061056, GO:0060349, GO:0060070, GO:0060028, GO:0050732, GO:0050680, GO:0048546, GO:0045944, GO:0045892, GO:0045766, GO:0045669, GO:0045600, GO:0043508, GO:0043154, GO:0043065, GO:0042733, GO:0042662, GO:0042493, GO:0036342, GO:0035567, GO:0033630, GO:0033138, GO:0031668, GO:0030514, GO:0030336, GO:0030308, GO:0030307, GO:0030199, GO:0030178, GO:0030178, GO:0010975, GO:0010950, GO:0010719, GO:0010667, GO:0010629, GO:0008584, GO:0008285, GO:0008285, GO:0008284, GO:0007584, GO:0007267, GO:0006915, GO:0003214, GO:0003151, GO:0002063, GO:0001569, negative regulation of planar cell polarity pathway involved in axis elongation, regulation of stem cell division, regulation of midbrain dopaminergic neuron differentiation, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of canonical Wnt signaling pathway, Wnt signaling pathway involved in somitogenesis, planar cell polarity pathway involved in neural tube closure, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, cellular response to X-ray, hematopoietic stem cell proliferation, negative regulation of dermatome development, sclerotome development, bone morphogenesis, canonical Wnt signaling pathway, convergent extension involved in axis elongation, negative regulation of peptidyl-tyrosine phosphorylation, negative regulation of epithelial cell proliferation, digestive tract morphogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of angiogenesis, positive regulation of osteoblast differentiation, positive regulation of fat cell differentiation, negative regulation of JUN kinase activity, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, embryonic digit morphogenesis, negative regulation of mesodermal cell fate specification, response to drug, post-anal tail morphogenesis, non-canonical Wnt signaling pathway, positive regulation of cell adhesion mediated by integrin, positive regulation of peptidyl-serine phosphorylation, cellular response to extracellular stimulus, negative regulation of BMP signaling pathway, negative regulation of cell migration, negative regulation of cell growth, positive regulation of cell growth, collagen fibril organization, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, regulation of neuron projection development, positive regulation of endopeptidase activity, negative regulation of epithelial to mesenchymal transition, negative regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, male gonad development, negative regulation of cell population proliferation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, response to nutrient, cell-cell signaling, apoptotic process, cardiac left ventricle morphogenesis, outflow tract morphogenesis, chondrocyte development, branching involved in blood vessel morphogenesis, 0 0 0 1 0 0 1 4 0 ENSG00000145425 chr4 151099573 151104652 + RPS3A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]. 6189 GO:1990904, GO:0070062, GO:0045202, GO:0022627, GO:0022627, GO:0005925, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, extracellular exosome, synapse, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, focal adhesion, cytosol, cytosol, cytosol, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleus, nucleus, GO:0048027, GO:0005515, GO:0003735, GO:0003723, GO:0003723, mRNA 5'-UTR binding, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0043066, GO:0030154, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0006412, GO:0000184, negative regulation of apoptotic process, cell differentiation, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1921 1014 2771 4160 1579 4750 3042 1614 3319 ENSG00000145428 chr4 153710125 153760235 - RNF175 protein_coding 285533 GO:0016021, GO:0005789, GO:0000139, integral component of membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0030968, GO:0030433, GO:0016567, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, protein ubiquitination, 238 319 417 119 327 305 155 226 232 ENSG00000145431 chr4 156760454 156971394 - PDGFC protein_coding The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]. 56034 GO:0070062, GO:0009986, GO:0005886, GO:0005829, GO:0005788, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0000139, extracellular exosome, cell surface, plasma membrane, cytosol, endoplasmic reticulum lumen, nucleus, extracellular space, extracellular space, extracellular region, Golgi membrane, GO:0070851, GO:0042803, GO:0008083, GO:0005515, GO:0005161, GO:0005161, growth factor receptor binding, protein homodimerization activity, growth factor activity, protein binding, platelet-derived growth factor receptor binding, platelet-derived growth factor receptor binding, GO:0120162, GO:0071230, GO:0070374, GO:0060348, GO:0051781, GO:0050730, GO:0048568, GO:0048565, GO:0048146, GO:0048008, GO:0048008, GO:0043406, GO:0031954, GO:0030335, GO:0014068, GO:0009887, GO:0008284, GO:0008284, GO:0007417, GO:0007171, positive regulation of cold-induced thermogenesis, cellular response to amino acid stimulus, positive regulation of ERK1 and ERK2 cascade, bone development, positive regulation of cell division, regulation of peptidyl-tyrosine phosphorylation, embryonic organ development, digestive tract development, positive regulation of fibroblast proliferation, platelet-derived growth factor receptor signaling pathway, platelet-derived growth factor receptor signaling pathway, positive regulation of MAP kinase activity, positive regulation of protein autophosphorylation, positive regulation of cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, animal organ morphogenesis, positive regulation of cell population proliferation, positive regulation of cell population proliferation, central nervous system development, activation of transmembrane receptor protein tyrosine kinase activity, 8 0 5 1 6 0 8 3 3 ENSG00000145439 chr4 168863770 169010275 - CBR4 protein_coding 84869 GO:1990204, GO:0005759, GO:0005759, oxidoreductase complex, mitochondrial matrix, mitochondrial matrix, GO:0070402, GO:0048038, GO:0048038, GO:0047025, GO:0016616, GO:0008753, GO:0005515, GO:0003955, NADPH binding, quinone binding, quinone binding, 3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, NADPH dehydrogenase (quinone) activity, protein binding, NAD(P)H dehydrogenase (quinone) activity, GO:0055114, GO:0055114, GO:0051290, GO:0051289, GO:0046949, GO:0044598, GO:0044597, GO:0006633, GO:0006633, GO:0006633, oxidation-reduction process, oxidation-reduction process, protein heterotetramerization, protein homotetramerization, fatty-acyl-CoA biosynthetic process, doxorubicin metabolic process, daunorubicin metabolic process, fatty acid biosynthetic process, fatty acid biosynthetic process, fatty acid biosynthetic process, 89 115 115 91 112 111 69 87 99 ENSG00000145451 chr4 174636914 174829314 - GLRA3 protein_coding This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 8001 GO:0045211, GO:0045202, GO:0043204, GO:0043005, GO:0030425, GO:0016935, GO:0005887, GO:0005887, GO:0005887, GO:0005886, postsynaptic membrane, synapse, perikaryon, neuron projection, dendrite, glycine-gated chloride channel complex, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0030594, GO:0022852, GO:0016934, GO:0016594, GO:0005254, GO:0004888, metal ion binding, neurotransmitter receptor activity, glycine-gated chloride ion channel activity, extracellularly glycine-gated chloride channel activity, glycine binding, chloride channel activity, transmembrane signaling receptor activity, GO:1902476, GO:1902476, GO:0060079, GO:0060012, GO:0051260, GO:0050877, GO:0043200, GO:0042391, GO:0034220, GO:0007268, GO:0007268, GO:0007218, GO:0007165, chloride transmembrane transport, chloride transmembrane transport, excitatory postsynaptic potential, synaptic transmission, glycinergic, protein homooligomerization, nervous system process, response to amino acid, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, chemical synaptic transmission, neuropeptide signaling pathway, signal transduction, 0 0 0 0 0 4 0 0 0 ENSG00000145476 chr4 186191520 186213456 + CYP4V2 protein_coding This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]. 285440 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0102033, GO:0020037, GO:0005506, GO:0004497, long-chain fatty acid omega-hydroxylase activity, heme binding, iron ion binding, monooxygenase activity, GO:0050896, GO:0016125, GO:0010430, GO:0010430, GO:0007601, GO:0001523, response to stimulus, sterol metabolic process, fatty acid omega-oxidation, fatty acid omega-oxidation, visual perception, retinoid metabolic process, 14 26 47 74 15 112 68 20 68 ENSG00000145491 chr5 10441524 10472029 + ROPN1L protein_coding This gene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2014]. 83853 GO:0031514, GO:0031514, GO:0005929, GO:0005737, GO:0005737, GO:0005576, motile cilium, motile cilium, cilium, cytoplasm, cytoplasm, extracellular region, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0048240, GO:0048240, GO:0030317, GO:0003351, GO:0001932, sperm capacitation, sperm capacitation, flagellated sperm motility, epithelial cilium movement involved in extracellular fluid movement, regulation of protein phosphorylation, 227 177 353 74 157 126 152 134 161 ENSG00000145494 chr5 1801400 1816605 + NDUFS6 protein_coding This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]. 4726 GO:0005747, GO:0005747, GO:0005747, GO:0005743, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0009055, GO:0008137, electron transfer activity, NADH dehydrogenase (ubiquinone) activity, GO:0070584, GO:0061458, GO:0035264, GO:0032981, GO:0010259, GO:0006936, GO:0006631, GO:0006120, GO:0006120, GO:0006120, GO:0001822, mitochondrion morphogenesis, reproductive system development, multicellular organism growth, mitochondrial respiratory chain complex I assembly, multicellular organism aging, muscle contraction, fatty acid metabolic process, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, kidney development, 91 69 97 51 83 57 69 74 44 ENSG00000145495 chr5 10353703 10440388 + MARCH6 protein_coding This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 10299 GO:0044322, GO:0030176, GO:0030176, GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0000835, endoplasmic reticulum quality control compartment, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, ER ubiquitin ligase complex, GO:1990381, GO:0061630, GO:0061630, GO:0031624, GO:0019899, GO:0008270, GO:0005515, GO:0004842, GO:0004842, ubiquitin-specific protease binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin conjugating enzyme binding, enzyme binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:1904380, GO:0070936, GO:0043161, GO:0036503, GO:0030433, GO:0016567, GO:0010498, endoplasmic reticulum mannose trimming, protein K48-linked ubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, proteasomal protein catabolic process, 3288 3076 4956 2236 2508 2877 2292 1823 2242 ENSG00000145506 chr5 1008829 1038943 + NKD2 protein_coding This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. 85409 GO:0071944, GO:0070382, GO:0031410, GO:0016328, GO:0016323, GO:0005886, GO:0005737, cell periphery, exocytic vesicle, cytoplasmic vesicle, lateral plasma membrane, basolateral plasma membrane, plasma membrane, cytoplasm, GO:0051117, GO:0032036, GO:0031625, GO:0019838, GO:0005515, GO:0005509, ATPase binding, myosin heavy chain binding, ubiquitin protein ligase binding, growth factor binding, protein binding, calcium ion binding, GO:1903078, GO:0090090, GO:0090090, GO:0072659, GO:0048210, GO:0032436, GO:0030178, GO:0016055, GO:0010954, GO:0006887, positive regulation of protein localization to plasma membrane, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, protein localization to plasma membrane, Golgi vesicle fusion to target membrane, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of Wnt signaling pathway, Wnt signaling pathway, positive regulation of protein processing, exocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000145526 chr5 19472951 20575873 - CDH18 protein_coding This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. 1016 GO:0016342, GO:0016021, GO:0005912, GO:0005886, catenin complex, integral component of membrane, adherens junction, plasma membrane, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0034332, GO:0034332, GO:0016339, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, adherens junction organization, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 0 0 0 2 0 1 0 0 0 ENSG00000145536 chr5 5140330 5320304 + ADAMTS16 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]. 170690 GO:0031012, extracellular matrix, GO:0046872, GO:0004222, metal ion binding, metalloendopeptidase activity, GO:1902017, GO:0048232, GO:0030198, GO:0006508, GO:0003073, GO:0001658, regulation of cilium assembly, male gamete generation, extracellular matrix organization, proteolysis, regulation of systemic arterial blood pressure, branching involved in ureteric bud morphogenesis, 0 0 0 0 1 0 0 2 2 ENSG00000145545 chr5 6633343 6674386 + SRD5A1 protein_coding Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]. 6715 GO:0070852, GO:0048471, GO:0043209, GO:0043025, GO:0016021, GO:0005789, cell body fiber, perinuclear region of cytoplasm, myelin sheath, neuronal cell body, integral component of membrane, endoplasmic reticulum membrane, GO:0070402, GO:0047751, GO:0033218, GO:0016491, GO:0009055, GO:0003865, GO:0003865, NADPH binding, cholestenone 5-alpha-reductase activity, amide binding, oxidoreductase activity, electron transfer activity, 3-oxo-5-alpha-steroid 4-dehydrogenase activity, 3-oxo-5-alpha-steroid 4-dehydrogenase activity, GO:0071872, GO:0071549, GO:0071394, GO:0071392, GO:0071363, GO:0071320, GO:0060992, GO:0060416, GO:0060348, GO:0043627, GO:0042747, GO:0042493, GO:0042448, GO:0042428, GO:0032869, GO:0032354, GO:0030540, GO:0030539, GO:0030154, GO:0022900, GO:0021987, GO:0021983, GO:0021854, GO:0021794, GO:0021766, GO:0021510, GO:0016101, GO:0014850, GO:0009267, GO:0008584, GO:0007530, GO:0006710, GO:0006702, GO:0006694, GO:0001889, GO:0001655, cellular response to epinephrine stimulus, cellular response to dexamethasone stimulus, cellular response to testosterone stimulus, cellular response to estradiol stimulus, cellular response to growth factor stimulus, cellular response to cAMP, response to fungicide, response to growth hormone, bone development, response to estrogen, circadian sleep/wake cycle, REM sleep, response to drug, progesterone metabolic process, serotonin metabolic process, cellular response to insulin stimulus, response to follicle-stimulating hormone, female genitalia development, male genitalia development, cell differentiation, electron transport chain, cerebral cortex development, pituitary gland development, hypothalamus development, thalamus development, hippocampus development, spinal cord development, diterpenoid metabolic process, response to muscle activity, cellular response to starvation, male gonad development, sex determination, androgen catabolic process, androgen biosynthetic process, steroid biosynthetic process, liver development, urogenital system development, 10 11 14 11 22 37 24 18 20 ENSG00000145555 chr5 16661914 16936276 - MYO10 protein_coding This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011]. 4651 GO:0043025, GO:0043005, GO:0032433, GO:0031527, GO:0030027, GO:0016459, GO:0005938, GO:0005886, GO:0005829, GO:0005829, GO:0005730, GO:0001726, neuronal cell body, neuron projection, filopodium tip, filopodium membrane, lamellipodium, myosin complex, cell cortex, plasma membrane, cytosol, cytosol, nucleolus, ruffle, GO:0060002, GO:0051015, GO:0030898, GO:0030507, GO:0005547, GO:0005524, GO:0005516, GO:0005515, plus-end directed microfilament motor activity, actin filament binding, actin-dependent ATPase activity, spectrin binding, phosphatidylinositol-3,4,5-trisphosphate binding, ATP binding, calmodulin binding, protein binding, GO:0051489, GO:0038096, GO:0030705, GO:0022409, GO:0008360, regulation of filopodium assembly, Fc-gamma receptor signaling pathway involved in phagocytosis, cytoskeleton-dependent intracellular transport, positive regulation of cell-cell adhesion, regulation of cell shape, 36 7 8 19 16 16 26 3 9 ENSG00000145569 chr5 14581775 14615007 + OTULINL protein_coding 54491 GO:0042406, GO:0005737, GO:0005635, extrinsic component of endoplasmic reticulum membrane, cytoplasm, nuclear envelope, GO:0043130, GO:0019783, GO:0005515, ubiquitin binding, ubiquitin-like protein-specific protease activity, protein binding, GO:0016579, protein deubiquitination, 175 202 248 133 218 198 148 182 186 ENSG00000145592 chr5 40825262 40835335 - RPL37 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6167 GO:0045202, GO:0022625, GO:0022625, GO:0022625, GO:0005829, synapse, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosol, GO:0046872, GO:0019843, GO:0003735, GO:0003735, GO:0003723, GO:0003723, metal ion binding, rRNA binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1312 1069 1751 2462 1605 2696 1772 1601 1856 ENSG00000145604 chr5 36151989 36184319 + SKP2 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]. 6502 GO:0019005, GO:0019005, GO:0005829, GO:0005829, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytosol, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0071460, GO:0070936, GO:0051726, GO:0051607, GO:0048661, GO:0045087, GO:0043687, GO:0043161, GO:0042981, GO:0031146, GO:0016579, GO:0016032, GO:0000209, GO:0000086, GO:0000082, cellular response to cell-matrix adhesion, protein K48-linked ubiquitination, regulation of cell cycle, defense response to virus, positive regulation of smooth muscle cell proliferation, innate immune response, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of apoptotic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein deubiquitination, viral process, protein polyubiquitination, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 58 62 56 53 46 53 33 28 37 ENSG00000145623 chr5 38845858 38945596 + OSMR protein_coding This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 9180 GO:0043235, GO:0016324, GO:0009897, GO:0005900, GO:0005886, receptor complex, apical plasma membrane, external side of plasma membrane, oncostatin-M receptor complex, plasma membrane, GO:0019955, GO:0019838, GO:0005515, GO:0005127, GO:0004924, GO:0004924, GO:0004923, GO:0004896, cytokine binding, growth factor binding, protein binding, ciliary neurotrophic factor receptor binding, oncostatin-M receptor activity, oncostatin-M receptor activity, leukemia inhibitory factor receptor activity, cytokine receptor activity, GO:0048861, GO:0038165, GO:0034097, GO:0019221, GO:0019221, GO:0008284, GO:0008284, GO:0002675, leukemia inhibitory factor signaling pathway, oncostatin-M-mediated signaling pathway, response to cytokine, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of acute inflammatory response, 314 311 360 218 390 370 328 262 301 ENSG00000145626 chr5 35951010 36001028 - UGT3A1 protein_coding 133688 GO:0043541, GO:0043231, GO:0016021, UDP-N-acetylglucosamine transferase complex, intracellular membrane-bounded organelle, integral component of membrane, GO:0015020, GO:0008194, GO:0008194, glucuronosyltransferase activity, UDP-glycosyltransferase activity, UDP-glycosyltransferase activity, 0 0 0 0 0 0 0 0 0 ENSG00000145632 chr5 58453982 58460260 - PLK2 protein_coding The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 10769 GO:0030425, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005737, GO:0005634, GO:0000922, GO:0000785, dendrite, cytosol, centriole, centriole, centrosome, centrosome, cytoplasm, cytoplasm, nucleus, spindle pole, chromatin, GO:0044877, GO:0043008, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein-containing complex binding, ATP-dependent protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000773, GO:0090050, GO:0071866, GO:0061000, GO:0060292, GO:0060291, GO:0048167, GO:0048167, GO:0046599, GO:0046599, GO:0045732, GO:0043123, GO:0043066, GO:0032486, GO:0032465, GO:0032436, GO:0032092, GO:0018105, GO:0016525, GO:0010508, GO:0007613, GO:0007265, GO:0007093, GO:0007093, GO:0007052, GO:0006977, GO:0006468, GO:0000278, GO:0000082, GO:0000082, negative regulation of cellular senescence, positive regulation of cell migration involved in sprouting angiogenesis, negative regulation of apoptotic process in bone marrow cell, negative regulation of dendritic spine development, long-term synaptic depression, long-term synaptic potentiation, regulation of synaptic plasticity, regulation of synaptic plasticity, regulation of centriole replication, regulation of centriole replication, positive regulation of protein catabolic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, Rap protein signal transduction, regulation of cytokinesis, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, peptidyl-serine phosphorylation, negative regulation of angiogenesis, positive regulation of autophagy, memory, Ras protein signal transduction, mitotic cell cycle checkpoint, mitotic cell cycle checkpoint, mitotic spindle organization, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, protein phosphorylation, mitotic cell cycle, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 19 20 49 189 351 284 93 113 131 ENSG00000145642 chr5 64690308 64718090 + SHISAL2B protein_coding 100132916 GO:0016021, integral component of membrane, 2 0 0 1 0 0 0 0 0 ENSG00000145649 chr5 55102648 55110252 + GZMA protein_coding Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]. 3001 GO:0005634, GO:0005576, GO:0001772, nucleus, extracellular region, immunological synapse, GO:0042803, GO:0005515, GO:0004252, protein homodimerization activity, protein binding, serine-type endopeptidase activity, GO:1902483, GO:0140507, GO:0070269, GO:0051603, GO:0051354, GO:0051354, GO:0043392, GO:0043065, GO:0043065, GO:0032078, GO:0019835, GO:0009617, GO:0006955, GO:0006915, cytotoxic T cell pyroptotic process, granzyme-mediated programmed cell death signaling pathway, pyroptosis, proteolysis involved in cellular protein catabolic process, negative regulation of oxidoreductase activity, negative regulation of oxidoreductase activity, negative regulation of DNA binding, positive regulation of apoptotic process, positive regulation of apoptotic process, negative regulation of endodeoxyribonuclease activity, cytolysis, response to bacterium, immune response, apoptotic process, 30 24 66 147 120 333 155 81 319 ENSG00000145675 chr5 68215720 68301821 + PIK3R1 protein_coding Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]. 5295 GO:1990578, GO:0048471, GO:0016020, GO:0005943, GO:0005942, GO:0005942, GO:0005911, GO:0005886, GO:0005829, GO:0005801, GO:0005737, GO:0005634, perinuclear endoplasmic reticulum membrane, perinuclear region of cytoplasm, membrane, phosphatidylinositol 3-kinase complex, class IA, phosphatidylinositol 3-kinase complex, phosphatidylinositol 3-kinase complex, cell-cell junction, plasma membrane, cytosol, cis-Golgi network, cytoplasm, nucleus, GO:0046982, GO:0046935, GO:0043560, GO:0043559, GO:0043548, GO:0043125, GO:0036312, GO:0035014, GO:0019903, GO:0008134, GO:0005515, GO:0005168, GO:0005159, GO:0005158, GO:0005068, GO:0001784, protein heterodimerization activity, 1-phosphatidylinositol-3-kinase regulator activity, insulin receptor substrate binding, insulin binding, phosphatidylinositol 3-kinase binding, ErbB-3 class receptor binding, phosphatidylinositol 3-kinase regulatory subunit binding, phosphatidylinositol 3-kinase regulator activity, protein phosphatase binding, transcription factor binding, protein binding, neurotrophin TRKA receptor binding, insulin-like growth factor receptor binding, insulin receptor binding, transmembrane receptor protein tyrosine kinase adaptor activity, phosphotyrosine residue binding, GO:1903078, GO:1900103, GO:0120183, GO:0060396, GO:0051897, GO:0051497, GO:0051491, GO:0050900, GO:0050852, GO:0050821, GO:0048015, GO:0048010, GO:0048009, GO:0048009, GO:0046854, GO:0046854, GO:0046626, GO:0046326, GO:0045944, GO:0045944, GO:0045671, GO:0043551, GO:0043551, GO:0043066, GO:0042307, GO:0038128, GO:0038096, GO:0038095, GO:0034976, GO:0034976, GO:0034644, GO:0034446, GO:0033120, GO:0032869, GO:0032760, GO:0031295, GO:0030335, GO:0030183, GO:0030168, GO:0019221, GO:0016032, GO:0014068, GO:0014065, GO:0014065, GO:0010592, GO:0008630, GO:0008625, GO:0008286, GO:0007411, GO:0007186, GO:0007173, GO:0006661, GO:0006606, GO:0006468, GO:0001953, GO:0001678, positive regulation of protein localization to plasma membrane, positive regulation of endoplasmic reticulum unfolded protein response, positive regulation of focal adhesion disassembly, growth hormone receptor signaling pathway, positive regulation of protein kinase B signaling, negative regulation of stress fiber assembly, positive regulation of filopodium assembly, leukocyte migration, T cell receptor signaling pathway, protein stabilization, phosphatidylinositol-mediated signaling, vascular endothelial growth factor receptor signaling pathway, insulin-like growth factor receptor signaling pathway, insulin-like growth factor receptor signaling pathway, phosphatidylinositol phosphorylation, phosphatidylinositol phosphorylation, regulation of insulin receptor signaling pathway, positive regulation of glucose import, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of osteoclast differentiation, regulation of phosphatidylinositol 3-kinase activity, regulation of phosphatidylinositol 3-kinase activity, negative regulation of apoptotic process, positive regulation of protein import into nucleus, ERBB2 signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, cellular response to UV, substrate adhesion-dependent cell spreading, positive regulation of RNA splicing, cellular response to insulin stimulus, positive regulation of tumor necrosis factor production, T cell costimulation, positive regulation of cell migration, B cell differentiation, platelet activation, cytokine-mediated signaling pathway, viral process, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, positive regulation of lamellipodium assembly, intrinsic apoptotic signaling pathway in response to DNA damage, extrinsic apoptotic signaling pathway via death domain receptors, insulin receptor signaling pathway, axon guidance, G protein-coupled receptor signaling pathway, epidermal growth factor receptor signaling pathway, phosphatidylinositol biosynthetic process, protein import into nucleus, protein phosphorylation, negative regulation of cell-matrix adhesion, cellular glucose homeostasis, 787 748 1428 562 352 714 834 305 722 ENSG00000145681 chr5 83637805 83721613 - HAPLN1 protein_coding 1404 GO:0062023, GO:0062023, GO:0045202, GO:0031012, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, synapse, extracellular matrix, extracellular region, GO:0030021, GO:0005540, extracellular matrix structural constituent conferring compression resistance, hyaluronic acid binding, GO:0030198, GO:0007417, GO:0007155, GO:0001501, extracellular matrix organization, central nervous system development, cell adhesion, skeletal system development, 0 0 0 1 0 0 0 0 0 ENSG00000145685 chr5 78485215 78770021 - LHFPL2 protein_coding This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 10184 GO:0031092, GO:0016021, GO:0016020, GO:0005886, GO:0005575, platelet alpha granule membrane, integral component of membrane, membrane, plasma membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1905516, GO:0046546, GO:0046545, GO:0008150, GO:0007338, GO:0002576, positive regulation of fertilization, development of primary male sexual characteristics, development of primary female sexual characteristics, biological_process, single fertilization, platelet degranulation, 32 39 50 30 58 56 35 29 27 ENSG00000145687 chr5 81413021 81751797 - SSBP2 protein_coding This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]. 23635 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0003697, single-stranded DNA binding, GO:0045944, GO:0006355, positive regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 300 229 301 211 285 292 220 255 230 ENSG00000145692 chr5 79111779 79132290 + BHMT protein_coding This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]. 635 GO:0070062, GO:0070062, GO:0005829, GO:0005829, extracellular exosome, extracellular exosome, cytosol, cytosol, GO:0047150, GO:0047150, GO:0047150, GO:0008270, betaine-homocysteine S-methyltransferase activity, betaine-homocysteine S-methyltransferase activity, betaine-homocysteine S-methyltransferase activity, zinc ion binding, GO:0071267, GO:0050666, GO:0046500, GO:0042426, GO:0006579, GO:0006577, GO:0006479, GO:0000096, L-methionine salvage, regulation of homocysteine metabolic process, S-adenosylmethionine metabolic process, choline catabolic process, amino-acid betaine catabolic process, amino-acid betaine metabolic process, protein methylation, sulfur amino acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000145700 chr5 75068275 75236878 - ANKRD31 protein_coding This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]. 256006 GO:0005634, GO:0000785, nucleus, chromatin, GO:1903343, GO:0010780, GO:0007129, positive regulation of meiotic DNA double-strand break formation, meiotic DNA double-strand break formation involved in reciprocal meiotic recombination, homologous chromosome pairing at meiosis, 0 0 1 1 0 3 7 0 1 ENSG00000145703 chr5 76403249 76708132 + IQGAP2 protein_coding This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. 10788 GO:0070062, GO:0030667, GO:0030175, GO:0030027, GO:0015629, GO:0009986, GO:0005902, GO:0005886, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, secretory granule membrane, filopodium, lamellipodium, actin cytoskeleton, cell surface, microvillus, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0071933, GO:0051015, GO:0051015, GO:0031267, GO:0031267, GO:0005547, GO:0005516, GO:0005516, GO:0005096, GO:0005095, GO:0003779, Arp2/3 complex binding, actin filament binding, actin filament binding, small GTPase binding, small GTPase binding, phosphatidylinositol-3,4,5-trisphosphate binding, calmodulin binding, calmodulin binding, GTPase activator activity, GTPase inhibitor activity, actin binding, GO:2000249, GO:0070493, GO:0043547, GO:0043312, GO:0034314, GO:0034260, GO:0032956, GO:0007165, regulation of actin cytoskeleton reorganization, thrombin-activated receptor signaling pathway, positive regulation of GTPase activity, neutrophil degranulation, Arp2/3 complex-mediated actin nucleation, negative regulation of GTPase activity, regulation of actin cytoskeleton organization, signal transduction, 4354 2968 3494 1536 1617 1390 1747 1468 1249 ENSG00000145708 chr5 76952713 76981158 + CRHBP protein_coding Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008]. 1393 GO:0043679, GO:0043204, GO:0043196, GO:0031045, GO:0030425, GO:0030141, GO:0005874, GO:0005794, GO:0005783, GO:0005771, GO:0005767, GO:0005634, GO:0005615, GO:0005615, GO:0005576, axon terminus, perikaryon, varicosity, dense core granule, dendrite, secretory granule, microtubule, Golgi apparatus, endoplasmic reticulum, multivesicular body, secondary lysosome, nucleus, extracellular space, extracellular space, extracellular region, GO:0051424, GO:0051424, GO:0051424, GO:0042277, GO:0005515, corticotropin-releasing hormone binding, corticotropin-releasing hormone binding, corticotropin-releasing hormone binding, peptide binding, protein binding, GO:2000310, GO:1900011, GO:1900011, GO:0097211, GO:0080135, GO:0071392, GO:0071391, GO:0071356, GO:0071320, GO:0071314, GO:0071277, GO:0051460, GO:0051460, GO:0051459, GO:0048149, GO:0045055, GO:0042445, GO:0035865, GO:0035690, GO:0009755, GO:0009755, GO:0007611, GO:0007565, GO:0007565, GO:0007165, GO:0006954, GO:0002125, GO:0001963, regulation of NMDA receptor activity, negative regulation of corticotropin-releasing hormone receptor activity, negative regulation of corticotropin-releasing hormone receptor activity, cellular response to gonadotropin-releasing hormone, regulation of cellular response to stress, cellular response to estradiol stimulus, cellular response to estrogen stimulus, cellular response to tumor necrosis factor, cellular response to cAMP, cellular response to cocaine, cellular response to calcium ion, negative regulation of corticotropin secretion, negative regulation of corticotropin secretion, regulation of corticotropin secretion, behavioral response to ethanol, regulated exocytosis, hormone metabolic process, cellular response to potassium ion, cellular response to drug, hormone-mediated signaling pathway, hormone-mediated signaling pathway, learning or memory, female pregnancy, female pregnancy, signal transduction, inflammatory response, maternal aggressive behavior, synaptic transmission, dopaminergic, 1 3 4 3 14 0 5 11 1 ENSG00000145715 chr5 87267888 87391931 + RASA1 protein_coding The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]. 5921 GO:0005886, GO:0005829, GO:0005737, GO:0001726, plasma membrane, cytosol, cytoplasm, ruffle, GO:0051020, GO:0019870, GO:0005515, GO:0005102, GO:0005096, GO:0003924, GO:0001784, GTPase binding, potassium channel inhibitor activity, protein binding, signaling receptor binding, GTPase activator activity, GTPase activity, phosphotyrosine residue binding, GO:0051252, GO:0048514, GO:0048013, GO:0046580, GO:0043547, GO:0043524, GO:0043066, GO:0035556, GO:0030833, GO:0008360, GO:0007165, GO:0007162, GO:0001953, GO:0001570, GO:0000281, GO:0000165, regulation of RNA metabolic process, blood vessel morphogenesis, ephrin receptor signaling pathway, negative regulation of Ras protein signal transduction, positive regulation of GTPase activity, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, intracellular signal transduction, regulation of actin filament polymerization, regulation of cell shape, signal transduction, negative regulation of cell adhesion, negative regulation of cell-matrix adhesion, vasculogenesis, mitotic cytokinesis, MAPK cascade, 1010 1151 1132 883 1132 1355 1171 798 1102 ENSG00000145721 chr5 97091867 97142872 - LIX1 protein_coding 167410 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0097352, autophagosome maturation, 0 2 0 2 0 0 0 0 1 ENSG00000145723 chr5 103086000 103120151 - GIN1 protein_coding 54826 GO:0003676, nucleic acid binding, GO:0015074, DNA integration, 30 15 22 21 28 28 20 17 23 ENSG00000145725 chr5 103120149 103212799 + PPIP5K2 protein_coding This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]. 23262 GO:0005829, GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, cytosol, GO:0102092, GO:0052724, GO:0052723, GO:0033857, GO:0033857, GO:0033857, GO:0005524, GO:0000832, GO:0000829, GO:0000828, GO:0000828, GO:0000827, 5-diphosphoinositol pentakisphosphate 3-kinase activity, inositol hexakisphosphate 3-kinase activity, inositol hexakisphosphate 1-kinase activity, diphosphoinositol-pentakisphosphate kinase activity, diphosphoinositol-pentakisphosphate kinase activity, diphosphoinositol-pentakisphosphate kinase activity, ATP binding, inositol hexakisphosphate 5-kinase activity, inositol heptakisphosphate kinase activity, inositol hexakisphosphate kinase activity, inositol hexakisphosphate kinase activity, inositol-1,3,4,5,6-pentakisphosphate kinase activity, GO:0043647, GO:0032958, GO:0016310, GO:0007605, GO:0006020, GO:0006020, inositol phosphate metabolic process, inositol phosphate biosynthetic process, phosphorylation, sensory perception of sound, inositol metabolic process, inositol metabolic process, 1086 1324 1040 588 1223 773 780 893 637 ENSG00000145730 chr5 102753981 103031105 + PAM protein_coding This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 5066 GO:0070062, GO:0048471, GO:0043204, GO:0043005, GO:0030667, GO:0030658, GO:0016021, GO:0016020, GO:0009986, GO:0005886, GO:0005802, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, perikaryon, neuron projection, secretory granule membrane, transport vesicle membrane, integral component of membrane, membrane, cell surface, plasma membrane, trans-Golgi network, extracellular region, GO:0042802, GO:0031418, GO:0019901, GO:0008270, GO:0005515, GO:0005509, GO:0005507, GO:0004598, GO:0004598, GO:0004504, GO:0004504, identical protein binding, L-ascorbic acid binding, protein kinase binding, zinc ion binding, protein binding, calcium ion binding, copper ion binding, peptidylamidoglycolate lyase activity, peptidylamidoglycolate lyase activity, peptidylglycine monooxygenase activity, peptidylglycine monooxygenase activity, GO:0062112, GO:0060173, GO:0060135, GO:0055114, GO:0051384, GO:0050708, GO:0046688, GO:0042493, GO:0042476, GO:0032956, GO:0032355, GO:0022602, GO:0018032, GO:0010043, GO:0009404, GO:0009268, GO:0007595, GO:0007507, GO:0007417, GO:0006357, GO:0001676, GO:0001666, GO:0001519, fatty acid primary amide biosynthetic process, limb development, maternal process involved in female pregnancy, oxidation-reduction process, response to glucocorticoid, regulation of protein secretion, response to copper ion, response to drug, odontogenesis, regulation of actin cytoskeleton organization, response to estradiol, ovulation cycle process, protein amidation, response to zinc ion, toxin metabolic process, response to pH, lactation, heart development, central nervous system development, regulation of transcription by RNA polymerase II, long-chain fatty acid metabolic process, response to hypoxia, peptide amidation, 80 475 112 84 398 90 77 333 108 ENSG00000145734 chr5 71455615 71567820 + BDP1 protein_coding The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]. 55814 GO:0005654, GO:0005654, GO:0000126, nucleoplasm, nucleoplasm, transcription factor TFIIIB complex, GO:0001156, TFIIIC-class transcription factor complex binding, GO:0070898, RNA polymerase III preinitiation complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000145736 chr5 71032670 71067689 - GTF2H2 protein_coding This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]. 2966 GO:0016607, GO:0005675, GO:0005675, GO:0005669, GO:0005654, GO:0005634, GO:0000439, GO:0000438, nuclear speck, transcription factor TFIIH holo complex, transcription factor TFIIH holo complex, transcription factor TFIID complex, nucleoplasm, nucleus, transcription factor TFIIH core complex, core TFIIH complex portion of holo TFIIH complex, GO:0047485, GO:0016251, GO:0008270, GO:0005515, protein N-terminus binding, RNA polymerase II general transcription initiation factor activity, zinc ion binding, protein binding, GO:1905776, GO:0070911, GO:0033683, GO:0016032, GO:0009411, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006357, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006283, GO:0002031, GO:0000717, positive regulation of DNA helicase activity, global genome nucleotide-excision repair, nucleotide-excision repair, DNA incision, viral process, response to UV, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, regulation of transcription by RNA polymerase II, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, G protein-coupled receptor internalization, nucleotide-excision repair, DNA duplex unwinding, 4 46 76 2 104 72 1 57 78 ENSG00000145740 chr5 69093646 69131069 + SLC30A5 protein_coding This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]. 64924 GO:0030667, GO:0030141, GO:0016324, GO:0016020, GO:0005887, GO:0005794, GO:0005794, GO:0005730, GO:0005654, secretory granule membrane, secretory granule, apical plasma membrane, membrane, integral component of plasma membrane, Golgi apparatus, Golgi apparatus, nucleolus, nucleoplasm, GO:0008270, GO:0005385, GO:0005385, zinc ion binding, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0071577, GO:0010155, GO:0010043, GO:0006882, GO:0006829, GO:0006824, zinc ion transmembrane transport, regulation of proton transport, response to zinc ion, cellular zinc ion homeostasis, zinc ion transport, cobalt ion transport, 275 226 374 234 276 248 256 183 232 ENSG00000145741 chr5 73498408 73505635 + BTF3 protein_coding This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]. 689 GO:0042788, GO:0005854, GO:0005829, GO:0005829, GO:0005634, polysomal ribosome, nascent polypeptide-associated complex, cytosol, cytosol, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0015031, GO:0006366, GO:0001701, protein transport, transcription by RNA polymerase II, in utero embryonic development, 618 511 936 877 576 905 673 500 678 ENSG00000145743 chr5 107859035 108382098 - FBXL17 protein_coding Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 64839 GO:0019005, GO:0019005, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0051726, GO:0043161, GO:0043153, GO:0031146, GO:0031146, GO:0016567, GO:0014033, GO:0008589, GO:0007399, GO:0006515, GO:0000209, GO:0000086, regulation of cell cycle, proteasome-mediated ubiquitin-dependent protein catabolic process, entrainment of circadian clock by photoperiod, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, neural crest cell differentiation, regulation of smoothened signaling pathway, nervous system development, protein quality control for misfolded or incompletely synthesized proteins, protein polyubiquitination, G2/M transition of mitotic cell cycle, 96 113 112 72 62 172 109 84 125 ENSG00000145757 chr5 95652181 95698711 - SPATA9 protein_coding 83890 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0030154, GO:0008150, GO:0007283, GO:0007275, cell differentiation, biological_process, spermatogenesis, multicellular organism development, 3 4 0 4 1 3 1 1 1 ENSG00000145777 chr5 111070062 111078024 + TSLP protein_coding This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. The protein promotes T helper type 2 (TH2) cell responses that are associated with immunity in various inflammatory diseases, including asthma, allergic inflammation and chronic obstructive pulmonary disease. The protein is therefore considered a potential therapeutic target for the treatment of such diseases. In addition, the shorter (predominant) isoform is an antimicrobial protein, displaying antibacterial and antifungal activity against B. cereus, E. coli, E. faecalis, S. mitis, S. epidermidis, and C. albicans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]. 85480 GO:0005615, GO:0005576, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, extracellular region, GO:0005139, GO:0005125, GO:0005125, GO:0005125, interleukin-7 receptor binding, cytokine activity, cytokine activity, cytokine activity, GO:1904894, GO:0071657, GO:0071654, GO:0050729, GO:0043066, GO:0042531, GO:0038111, GO:0033005, GO:0032755, GO:0032754, GO:0032736, GO:0032733, GO:0032722, GO:0008284, GO:0008284, GO:0001961, positive regulation of receptor signaling pathway via STAT, positive regulation of granulocyte colony-stimulating factor production, positive regulation of chemokine (C-C motif) ligand 1 production, positive regulation of inflammatory response, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, interleukin-7-mediated signaling pathway, positive regulation of mast cell activation, positive regulation of interleukin-6 production, positive regulation of interleukin-5 production, positive regulation of interleukin-13 production, positive regulation of interleukin-10 production, positive regulation of chemokine production, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cytokine-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000145779 chr5 119268692 119399688 + TNFAIP8 protein_coding 25816 GO:0005737, GO:0005737, GO:0005654, cytoplasm, cytoplasm, nucleoplasm, GO:0043027, GO:0043027, GO:0005515, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, protein binding, GO:0043154, GO:0043066, GO:0043065, GO:0006915, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, apoptotic process, 432 400 621 437 461 658 518 388 557 ENSG00000145780 chr5 115520908 115544894 - FEM1C protein_coding 56929 GO:0005829, GO:0005829, GO:0005654, GO:0000151, cytosol, cytosol, nucleoplasm, ubiquitin ligase complex, GO:0005515, protein binding, GO:0043687, GO:0016567, GO:0006511, post-translational protein modification, protein ubiquitination, ubiquitin-dependent protein catabolic process, 785 910 1276 412 742 1478 620 590 1246 ENSG00000145781 chr5 116084991 116412762 + COMMD10 protein_coding 51397 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0005515, protein binding, 28 24 39 34 9 51 27 30 48 ENSG00000145782 chr5 115828200 115841858 - ATG12 protein_coding Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]. 9140 GO:0034274, GO:0034045, GO:0034045, GO:0030670, GO:0005829, GO:0005776, Atg12-Atg5-Atg16 complex, phagophore assembly site membrane, phagophore assembly site membrane, phagocytic vesicle membrane, cytosol, autophagosome, GO:0005515, protein binding, GO:0044804, GO:0016236, GO:0016032, GO:0006501, GO:0000422, GO:0000045, GO:0000045, autophagy of nucleus, macroautophagy, viral process, C-terminal protein lipidation, autophagy of mitochondrion, autophagosome assembly, autophagosome assembly, 707 573 772 870 845 796 958 656 705 ENSG00000145794 chr5 127290831 127465737 + MEGF10 protein_coding This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]. 84466 GO:0042995, GO:0016021, GO:0005886, GO:0001891, cell projection, integral component of membrane, plasma membrane, phagocytic cup, GO:0005112, GO:0005112, GO:0005044, GO:0001849, Notch binding, Notch binding, scavenger receptor activity, complement component C1q complex binding, GO:2000288, GO:1902742, GO:0055001, GO:0051451, GO:0051147, GO:0048641, GO:0048627, GO:0043654, GO:0043652, GO:0043277, GO:0034109, GO:0033002, GO:0022409, GO:0014841, GO:0014816, GO:0014719, positive regulation of myoblast proliferation, apoptotic process involved in development, muscle cell development, myoblast migration, regulation of muscle cell differentiation, regulation of skeletal muscle tissue development, myoblast development, recognition of apoptotic cell, engulfment of apoptotic cell, apoptotic cell clearance, homotypic cell-cell adhesion, muscle cell proliferation, positive regulation of cell-cell adhesion, skeletal muscle satellite cell proliferation, skeletal muscle satellite cell differentiation, skeletal muscle satellite cell activation, 0 0 0 0 0 0 0 0 0 ENSG00000145808 chr5 129460265 129738683 + ADAMTS19 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]. 171019 GO:0031012, extracellular matrix, GO:0046872, GO:0004222, metal ion binding, metalloendopeptidase activity, GO:0030198, GO:0006508, extracellular matrix organization, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000145817 chr5 144158159 144170714 - YIPF5 protein_coding 81555 GO:0070971, GO:0043231, GO:0030134, GO:0016021, GO:0005794, GO:0005789, GO:0005783, GO:0005654, endoplasmic reticulum exit site, intracellular membrane-bounded organelle, COPII-coated ER to Golgi transport vesicle, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, GO:0005515, protein binding, GO:0060628, GO:0016192, GO:0015031, regulation of ER to Golgi vesicle-mediated transport, vesicle-mediated transport, protein transport, 134 125 198 121 90 140 86 91 102 ENSG00000145819 chr5 142770377 143229011 + ARHGAP26 protein_coding Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]. 23092 GO:0005925, GO:0005856, GO:0005829, GO:0005575, focal adhesion, cytoskeleton, cytosol, cellular_component, GO:0005543, GO:0005515, GO:0005096, GO:0005096, phospholipid binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0051056, GO:0043547, GO:0030036, GO:0007399, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, actin cytoskeleton organization, nervous system development, signal transduction, 7222 6860 7957 5872 7823 7881 6859 5593 6814 ENSG00000145824 chr5 135570679 135579279 - CXCL14 protein_coding This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014]. 9547 GO:0005794, GO:0005615, Golgi apparatus, extracellular space, GO:0008009, GO:0005515, chemokine activity, protein binding, GO:2000503, GO:0061844, GO:0060326, GO:0048839, GO:0045662, GO:0007267, GO:0007165, GO:0006935, positive regulation of natural killer cell chemotaxis, antimicrobial humoral immune response mediated by antimicrobial peptide, cell chemotaxis, inner ear development, negative regulation of myoblast differentiation, cell-cell signaling, signal transduction, chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000145826 chr5 135922279 135955034 - LECT2 protein_coding This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]. 3950 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0046872, GO:0042802, GO:0005515, metal ion binding, identical protein binding, protein binding, GO:0006935, GO:0001501, chemotaxis, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000145832 chr5 135579202 135889770 + SLC25A48 protein_coding 153328 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0015227, GO:0005515, GO:0005347, acyl carnitine transmembrane transporter activity, protein binding, ATP transmembrane transporter activity, GO:1902616, GO:0015867, GO:0006865, GO:0006844, acyl carnitine transmembrane transport, ATP transport, amino acid transport, acyl carnitine transport, 0 0 0 0 0 0 0 0 0 ENSG00000145833 chr5 134758771 134855133 + DDX46 protein_coding This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]. 9879 GO:0016607, GO:0016020, GO:0015030, GO:0005654, GO:0005634, GO:0005634, GO:0001650, nuclear speck, membrane, Cajal body, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0005524, GO:0003724, GO:0003723, ATP binding, RNA helicase activity, RNA binding, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 707 806 807 446 416 465 440 442 399 ENSG00000145835 chr2 26827169 26827520 - CDKN2AIPNLP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000145839 chr5 135892246 135895827 - IL9 protein_coding The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008]. 3578 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008083, GO:0005140, GO:0005125, growth factor activity, interleukin-9 receptor binding, cytokine activity, GO:0038113, GO:0032754, GO:0030307, GO:0008284, GO:0006955, GO:0006954, interleukin-9-mediated signaling pathway, positive regulation of interleukin-5 production, positive regulation of cell growth, positive regulation of cell population proliferation, immune response, inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000145850 chr5 156919282 156963255 - TIMD4 protein_coding 91937 GO:0016021, integral component of membrane, 1 1 1 3 2 2 1 1 0 ENSG00000145860 chr5 159157409 159210053 - RNF145 protein_coding 153830 GO:0016021, GO:0012505, GO:0005789, GO:0005783, integral component of membrane, endomembrane system, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0016567, protein ubiquitination, 1939 1546 2769 456 626 559 518 536 525 ENSG00000145861 chr5 160347751 160370641 - C1QTNF2 protein_coding 114898 GO:0005581, GO:0005576, collagen trimer, extracellular region, GO:0005515, protein binding, GO:0019216, regulation of lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000145863 chr5 161547063 161702593 + GABRA6 protein_coding GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]. 2559 GO:1902711, GO:0099192, GO:0098794, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0005887, GO:0005886, GABA-A receptor complex, cerebellar Golgi cell to granule cell synapse, postsynapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, dendrite membrane, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0030594, GO:0022851, GO:0008503, GO:0005254, GO:0005237, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:1902476, GO:0060078, GO:0051932, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007214, GO:0007165, chloride transmembrane transport, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 4 0 0 0 0 0 ENSG00000145864 chr5 161288429 161549044 - GABRB2 protein_coding The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]. 2561 GO:1902711, GO:1902711, GO:0099060, GO:0098982, GO:0070062, GO:0045202, GO:0043005, GO:0034707, GO:0030659, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GABA-A receptor complex, GABA-A receptor complex, integral component of postsynaptic specialization membrane, GABA-ergic synapse, extracellular exosome, synapse, neuron projection, chloride channel complex, cytoplasmic vesicle membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:1904315, GO:0030594, GO:0022851, GO:0016917, GO:0005254, GO:0005254, GO:0005237, GO:0004890, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, GABA receptor activity, chloride channel activity, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GABA-A receptor activity, GO:1904862, GO:1902476, GO:1902476, GO:0090102, GO:0071420, GO:0060384, GO:0060119, GO:0060078, GO:0051932, GO:0050877, GO:0043524, GO:0042391, GO:0034220, GO:0007605, GO:0007268, GO:0007214, GO:0007165, inhibitory synapse assembly, chloride transmembrane transport, chloride transmembrane transport, cochlea development, cellular response to histamine, innervation, inner ear receptor cell development, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, negative regulation of neuron apoptotic process, regulation of membrane potential, ion transmembrane transport, sensory perception of sound, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 2 0 0 ENSG00000145868 chr5 148383935 148442836 + FBXO38 protein_coding This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 81545 GO:0019005, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, SCF ubiquitin ligase complex, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0070936, GO:0070936, GO:0031146, GO:0031146, GO:0010976, GO:0002842, GO:0002250, protein K48-linked ubiquitination, protein K48-linked ubiquitination, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, positive regulation of neuron projection development, positive regulation of T cell mediated immune response to tumor cell, adaptive immune response, 1231 723 2015 622 666 755 669 516 731 ENSG00000145879 chr5 148312419 148315922 + SPINK7 protein_coding 84651 GO:0005576, extracellular region, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 0 1 0 0 1 2 ENSG00000145882 chr5 149358007 149369653 + PCYOX1L protein_coding 78991 GO:0031093, GO:0016020, GO:0005576, platelet alpha granule lumen, membrane, extracellular region, GO:0001735, prenylcysteine oxidase activity, GO:0055114, GO:0030328, GO:0030327, GO:0002576, oxidation-reduction process, prenylcysteine catabolic process, prenylated protein catabolic process, platelet degranulation, 32 19 36 95 37 94 71 33 90 ENSG00000145888 chr5 151822513 151924842 - GLRA1 protein_coding The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]. 2741 GO:0099060, GO:0099056, GO:0098690, GO:0060077, GO:0045211, GO:0045202, GO:0045202, GO:0044305, GO:0043231, GO:0043204, GO:0043025, GO:0043005, GO:0043005, GO:0034707, GO:0030425, GO:0016021, GO:0009897, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005783, integral component of postsynaptic specialization membrane, integral component of presynaptic membrane, glycinergic synapse, inhibitory synapse, postsynaptic membrane, synapse, synapse, calyx of Held, intracellular membrane-bounded organelle, perikaryon, neuronal cell body, neuron projection, neuron projection, chloride channel complex, dendrite, integral component of membrane, external side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:1904315, GO:0044877, GO:0042802, GO:0030977, GO:0030594, GO:0016934, GO:0016934, GO:0016934, GO:0016934, GO:0016594, GO:0008270, GO:0005515, GO:0005254, GO:0004888, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, protein-containing complex binding, identical protein binding, taurine binding, neurotransmitter receptor activity, extracellularly glycine-gated chloride channel activity, extracellularly glycine-gated chloride channel activity, extracellularly glycine-gated chloride channel activity, extracellularly glycine-gated chloride channel activity, glycine binding, zinc ion binding, protein binding, chloride channel activity, transmembrane signaling receptor activity, GO:2000344, GO:1902476, GO:1902476, GO:0097305, GO:0071361, GO:0071294, GO:0071230, GO:0060080, GO:0060079, GO:0060013, GO:0060012, GO:0060012, GO:0051970, GO:0050884, GO:0050877, GO:0043200, GO:0042391, GO:0042391, GO:0034220, GO:0007628, GO:0007601, GO:0007340, GO:0007268, GO:0007268, GO:0007218, GO:0007218, GO:0007165, GO:0006936, GO:0006821, GO:0006811, GO:0002087, GO:0001964, GO:0001508, positive regulation of acrosome reaction, chloride transmembrane transport, chloride transmembrane transport, response to alcohol, cellular response to ethanol, cellular response to zinc ion, cellular response to amino acid stimulus, inhibitory postsynaptic potential, excitatory postsynaptic potential, righting reflex, synaptic transmission, glycinergic, synaptic transmission, glycinergic, negative regulation of transmission of nerve impulse, neuromuscular process controlling posture, nervous system process, response to amino acid, regulation of membrane potential, regulation of membrane potential, ion transmembrane transport, adult walking behavior, visual perception, acrosome reaction, chemical synaptic transmission, chemical synaptic transmission, neuropeptide signaling pathway, neuropeptide signaling pathway, signal transduction, muscle contraction, chloride transport, ion transport, regulation of respiratory gaseous exchange by nervous system process, startle response, action potential, 0 0 0 0 0 0 0 0 0 ENSG00000145901 chr5 151029945 151093577 - TNIP1 protein_coding This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 10318 GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, nucleoplasm, GO:0051019, GO:0051019, GO:0042802, GO:0031593, GO:0005515, mitogen-activated protein kinase binding, mitogen-activated protein kinase binding, identical protein binding, polyubiquitin modification-dependent protein binding, protein binding, GO:1903003, GO:0085032, GO:0085032, GO:0070373, GO:0070373, GO:0050729, GO:0045944, GO:0045944, GO:0045071, GO:0043124, GO:0043124, GO:0016579, GO:0009101, GO:0007159, GO:0006954, GO:0006952, GO:0006412, GO:0002755, positive regulation of protein deubiquitination, modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade, modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, positive regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of viral genome replication, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of I-kappaB kinase/NF-kappaB signaling, protein deubiquitination, glycoprotein biosynthetic process, leukocyte cell-cell adhesion, inflammatory response, defense response, translation, MyD88-dependent toll-like receptor signaling pathway, 3678 2762 5871 1222 1901 1765 1695 1574 1465 ENSG00000145907 chr5 151771045 151812785 + G3BP1 protein_coding This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. 10146 GO:1990904, GO:0043204, GO:0010494, GO:0010494, GO:0005925, GO:0005829, GO:0005829, GO:0005737, GO:0005634, ribonucleoprotein complex, perikaryon, cytoplasmic stress granule, cytoplasmic stress granule, focal adhesion, cytosol, cytosol, cytoplasm, nucleus, GO:0033677, GO:0005524, GO:0005515, GO:0004519, GO:0003729, GO:0003724, GO:0003723, GO:0003678, GO:0003677, DNA/RNA helicase activity, ATP binding, protein binding, endonuclease activity, mRNA binding, RNA helicase activity, RNA binding, DNA helicase activity, DNA binding, GO:0090305, GO:0090090, GO:0062029, GO:0051607, GO:0045087, GO:0034063, GO:0032606, GO:0032606, GO:0032508, GO:0016032, GO:0007265, nucleic acid phosphodiester bond hydrolysis, negative regulation of canonical Wnt signaling pathway, positive regulation of stress granule assembly, defense response to virus, innate immune response, stress granule assembly, type I interferon production, type I interferon production, DNA duplex unwinding, viral process, Ras protein signal transduction, 315 404 500 472 317 532 431 270 395 ENSG00000145908 chr5 150894392 150904983 - ZNF300 protein_coding The protein encoded by this gene is a C2H2-type zinc finger DNA binding protein and likely transcriptional regulator. The function of this protein is not yet known. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]. 91975 GO:0016604, GO:0005730, GO:0005654, GO:0005634, GO:0005634, nuclear body, nucleolus, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000978, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 8 9 10 16 11 25 7 7 0 ENSG00000145911 chr5 178113443 178126087 + N4BP3 protein_coding 23138 GO:0031410, GO:0030425, GO:0030424, cytoplasmic vesicle, dendrite, axon, GO:0005515, protein binding, GO:0007399, nervous system development, 9 2 54 27 4 27 24 10 1 ENSG00000145912 chr5 178149460 178153967 - NHP2 protein_coding This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]. 55651 GO:0090661, GO:0090661, GO:0072589, GO:0031429, GO:0031429, GO:0031429, GO:0005732, GO:0005697, GO:0005697, GO:0005654, GO:0000781, box H/ACA telomerase RNP complex, box H/ACA telomerase RNP complex, box H/ACA scaRNP complex, box H/ACA snoRNP complex, box H/ACA snoRNP complex, box H/ACA snoRNP complex, small nucleolar ribonucleoprotein complex, telomerase holoenzyme complex, telomerase holoenzyme complex, nucleoplasm, chromosome, telomeric region, GO:0070034, GO:0034513, GO:0034513, GO:0005515, GO:0003723, GO:0003723, GO:0003723, telomerase RNA binding, box H/ACA snoRNA binding, box H/ACA snoRNA binding, protein binding, RNA binding, RNA binding, RNA binding, GO:1904874, GO:0031120, GO:0031118, GO:0031118, GO:0031118, GO:0007004, GO:0007004, GO:0000470, GO:0000469, positive regulation of telomerase RNA localization to Cajal body, snRNA pseudouridine synthesis, rRNA pseudouridine synthesis, rRNA pseudouridine synthesis, rRNA pseudouridine synthesis, telomere maintenance via telomerase, telomere maintenance via telomerase, maturation of LSU-rRNA, cleavage involved in rRNA processing, 22 18 29 99 30 74 44 25 65 ENSG00000145916 chr5 178130996 178150565 + RMND5B protein_coding 64777 GO:0034657, GO:0005829, GO:0005737, GO:0005634, GID complex, cytosol, cytoplasm, nucleus, GO:0046872, GO:0005515, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0043161, GO:0016567, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, 84 69 109 90 56 75 82 69 91 ENSG00000145919 chr5 173607514 173616660 - BOD1 protein_coding 91272 GO:0005876, GO:0005876, GO:0005813, GO:0005813, GO:0005737, GO:0000940, GO:0000940, GO:0000922, GO:0000922, spindle microtubule, spindle microtubule, centrosome, centrosome, cytoplasm, condensed chromosome outer kinetochore, condensed chromosome outer kinetochore, spindle pole, spindle pole, GO:0051721, GO:0051721, GO:0004864, GO:0004864, protein phosphatase 2A binding, protein phosphatase 2A binding, protein phosphatase inhibitor activity, protein phosphatase inhibitor activity, GO:1990758, GO:0071962, GO:0071459, GO:0051301, GO:0032515, GO:0032515, GO:0007080, mitotic sister chromatid biorientation, mitotic sister chromatid cohesion, centromeric, protein localization to chromosome, centromeric region, cell division, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphoprotein phosphatase activity, mitotic metaphase plate congression, 24 22 46 27 18 49 32 24 42 ENSG00000145920 chr5 175796310 175884020 + CPLX2 protein_coding Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 10814 GO:0098978, GO:0070554, GO:0070033, GO:0043204, GO:0043195, GO:0031201, GO:0030425, GO:0005829, GO:0005634, glutamatergic synapse, synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex, synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex, perikaryon, terminal bouton, SNARE complex, dendrite, cytosol, nucleus, GO:0048306, GO:0017075, GO:0005515, GO:0000149, calcium-dependent protein binding, syntaxin-1 binding, protein binding, SNARE binding, GO:0046928, GO:0043303, GO:0031915, GO:0031630, GO:0030154, GO:0017157, GO:0016079, GO:0007399, GO:0006904, regulation of neurotransmitter secretion, mast cell degranulation, positive regulation of synaptic plasticity, regulation of synaptic vesicle fusion to presynaptic active zone membrane, cell differentiation, regulation of exocytosis, synaptic vesicle exocytosis, nervous system development, vesicle docking involved in exocytosis, 4 13 5 0 3 0 1 0 0 ENSG00000145934 chr5 167284799 168264157 + TENM2 protein_coding 57451 GO:0045211, GO:0045202, GO:0043197, GO:0043005, GO:0043005, GO:0030426, GO:0030425, GO:0030175, GO:0030054, GO:0016605, GO:0005887, GO:0005886, GO:0005794, GO:0005783, GO:0005634, postsynaptic membrane, synapse, dendritic spine, neuron projection, neuron projection, growth cone, dendrite, filopodium, cell junction, PML body, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, nucleus, GO:0050839, GO:0046982, GO:0046982, GO:0042803, GO:0042803, GO:0005509, cell adhesion molecule binding, protein heterodimerization activity, protein heterodimerization activity, protein homodimerization activity, protein homodimerization activity, calcium ion binding, GO:0098609, GO:0051491, GO:0048666, GO:0007165, GO:0007157, GO:0000122, cell-cell adhesion, positive regulation of filopodium assembly, neuron development, signal transduction, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, negative regulation of transcription by RNA polymerase II, 0 0 0 7 0 0 1 0 0 ENSG00000145936 chr5 170374671 170389677 - KCNMB1 protein_coding MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]. 3779 GO:0045202, GO:0008076, GO:0005886, synapse, voltage-gated potassium channel complex, plasma membrane, GO:0015459, GO:0015269, potassium channel regulator activity, calcium-activated potassium channel activity, GO:1903413, GO:1901381, GO:0097755, GO:0071805, GO:0071456, GO:0071361, GO:0007568, GO:0007268, GO:0006813, GO:0005513, cellular response to bile acid, positive regulation of potassium ion transmembrane transport, positive regulation of blood vessel diameter, potassium ion transmembrane transport, cellular response to hypoxia, cellular response to ethanol, aging, chemical synaptic transmission, potassium ion transport, detection of calcium ion, 0 0 0 7 1 3 0 2 0 ENSG00000145945 chr6 3849373 3851320 + FAM50B protein_coding This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]. 26240 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006325, chromatin organization, 5 3 7 5 2 1 3 3 6 ENSG00000145949 chr6 2663629 2750966 - MYLK4 protein_coding 340156 GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004687, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, myosin light chain kinase activity, GO:0006468, protein phosphorylation, 2 0 2 4 2 1 9 0 4 ENSG00000145975 chr6 4049434 4087344 - FAM217A protein_coding 222826 GO:0005515, protein binding, 4 6 3 15 5 1 0 3 14 ENSG00000145979 chr6 13266542 13328583 - TBC1D7 protein_coding This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]. 51256 GO:0036064, GO:0031410, GO:0005829, ciliary basal body, cytoplasmic vesicle, cytosol, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902018, GO:0090630, GO:0090630, GO:0070848, GO:0043547, GO:0032007, GO:0032007, GO:0031398, negative regulation of cilium assembly, activation of GTPase activity, activation of GTPase activity, response to growth factor, positive regulation of GTPase activity, negative regulation of TOR signaling, negative regulation of TOR signaling, positive regulation of protein ubiquitination, 181 322 259 765 1027 1297 1194 1081 1265 ENSG00000145982 chr6 5261044 5829192 + FARS2 protein_coding This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 10667 GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0005524, GO:0005515, GO:0004826, GO:0004826, GO:0004826, GO:0000049, ATP binding, protein binding, phenylalanine-tRNA ligase activity, phenylalanine-tRNA ligase activity, phenylalanine-tRNA ligase activity, tRNA binding, GO:0008033, GO:0006432, GO:0006432, GO:0006418, tRNA processing, phenylalanyl-tRNA aminoacylation, phenylalanyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 10 10 7 36 13 34 15 16 17 ENSG00000145990 chr6 13357830 13487662 - GFOD1 protein_coding 54438 GO:0005576, extracellular region, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, oxidation-reduction process, 94 188 284 50 69 50 54 49 73 ENSG00000145996 chr6 20534457 21232404 + CDKAL1 protein_coding The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]. 54901 GO:0016021, GO:0016020, GO:0005791, GO:0005789, GO:0005783, integral component of membrane, membrane, rough endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0061712, GO:0051539, GO:0046872, GO:0035598, GO:0005515, tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase, 4 iron, 4 sulfur cluster binding, metal ion binding, N6-threonylcarbomyladenosine methylthiotransferase activity, protein binding, GO:1990145, GO:0035600, GO:0008150, GO:0006400, maintenance of translational fidelity, tRNA methylthiolation, biological_process, tRNA modification, 27 23 33 35 18 51 40 27 30 ENSG00000146001 chr5 141234333 141237529 + PCDHB18P transcribed_unprocessed_pseudogene 54660 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000146005 chr5 139795821 139844466 + PSD2 protein_coding 84249 GO:0098978, GO:0098794, GO:0043025, GO:0032587, GO:0032154, GO:0030425, GO:0016021, glutamatergic synapse, postsynapse, neuronal cell body, ruffle membrane, cleavage furrow, dendrite, integral component of membrane, GO:0005543, GO:0005085, phospholipid binding, guanyl-nucleotide exchange factor activity, GO:0032012, regulation of ARF protein signal transduction, 0 0 0 0 0 1 0 0 0 ENSG00000146006 chr5 138868923 138875368 - LRRTM2 protein_coding 26045 GO:0099060, GO:0099060, GO:0098982, GO:0098982, GO:0098978, GO:0060076, GO:0005615, integral component of postsynaptic specialization membrane, integral component of postsynaptic specialization membrane, GABA-ergic synapse, GABA-ergic synapse, glutamatergic synapse, excitatory synapse, extracellular space, GO:0042043, GO:0005515, neurexin family protein binding, protein binding, GO:0099151, GO:0060291, GO:0051965, GO:0050808, GO:0002091, regulation of postsynaptic density assembly, long-term synaptic potentiation, positive regulation of synapse assembly, synapse organization, negative regulation of receptor internalization, 4 3 9 3 7 13 11 1 1 ENSG00000146007 chr5 140698680 140706676 + ZMAT2 protein_coding 153527 GO:0071005, GO:0046540, GO:0005634, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, nucleus, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1008 1058 1342 420 785 715 529 783 638 ENSG00000146013 chr5 138252379 138274671 - GFRA3 protein_coding The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq, Jul 2008]. 2676 GO:0043235, GO:0031225, GO:0019898, GO:0009897, GO:0005886, GO:0005886, GO:0005829, receptor complex, anchored component of membrane, extrinsic component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0038023, GO:0016167, GO:0008046, GO:0005515, GO:0005102, signaling receptor activity, glial cell-derived neurotrophic factor receptor activity, axon guidance receptor activity, protein binding, signaling receptor binding, GO:0048485, GO:0035860, GO:0007422, GO:0007411, GO:0007399, GO:0007165, GO:0001764, GO:0000165, sympathetic nervous system development, glial cell-derived neurotrophic factor receptor signaling pathway, peripheral nervous system development, axon guidance, nervous system development, signal transduction, neuron migration, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000146021 chr5 137617500 137736090 - KLHL3 protein_coding This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]. 26249 GO:0031463, GO:0031463, GO:0005856, GO:0005829, GO:0005829, GO:0005829, Cul3-RING ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, cytoskeleton, cytosol, cytosol, cytosol, GO:0097602, GO:0005515, GO:0005198, GO:0003779, cullin family protein binding, protein binding, structural molecule activity, actin binding, GO:0072156, GO:0070936, GO:0070936, GO:0070294, GO:0070294, GO:0061912, GO:0050801, GO:0050801, GO:0043687, GO:0016567, GO:0016567, GO:0006511, distal tubule morphogenesis, protein K48-linked ubiquitination, protein K48-linked ubiquitination, renal sodium ion absorption, renal sodium ion absorption, selective autophagy, ion homeostasis, ion homeostasis, post-translational protein modification, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, 18 19 32 49 7 27 22 11 35 ENSG00000146038 chr6 24171756 24358052 - DCDC2 protein_coding This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]. 51473 GO:0072686, GO:0060091, GO:0060091, GO:0034451, GO:0030864, GO:0015630, GO:0005930, GO:0005930, GO:0005929, GO:0005874, GO:0005829, GO:0005815, GO:0005737, GO:0005654, mitotic spindle, kinocilium, kinocilium, centriolar satellite, cortical actin cytoskeleton, microtubule cytoskeleton, axoneme, axoneme, cilium, microtubule, cytosol, microtubule organizing center, cytoplasm, nucleoplasm, GO:0019894, GO:0005515, kinesin binding, protein binding, GO:1902017, GO:1902017, GO:0060271, GO:0060271, GO:0048813, GO:0045880, GO:0035556, GO:0030111, GO:0007605, GO:0006968, GO:0001764, GO:0001764, GO:0001764, regulation of cilium assembly, regulation of cilium assembly, cilium assembly, cilium assembly, dendrite morphogenesis, positive regulation of smoothened signaling pathway, intracellular signal transduction, regulation of Wnt signaling pathway, sensory perception of sound, cellular defense response, neuron migration, neuron migration, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000146039 chr6 25754699 25781191 + SLC17A4 protein_coding Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]. 10050 GO:0016324, GO:0016021, GO:0016020, GO:0005887, GO:0005764, apical plasma membrane, integral component of membrane, membrane, integral component of plasma membrane, lysosome, GO:0022857, GO:0015136, GO:0005436, transmembrane transporter activity, sialic acid transmembrane transporter activity, sodium:phosphate symporter activity, GO:0035725, GO:0015739, GO:0006820, GO:0006814, GO:0006796, sodium ion transmembrane transport, sialic acid transport, anion transport, sodium ion transport, phosphate-containing compound metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000146047 chr6 25726777 25727292 + HIST1H2BA protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]. 255626 GO:0005654, GO:0005634, GO:0000786, GO:0000786, GO:0000781, nucleoplasm, nucleus, nucleosome, nucleosome, chromosome, telomeric region, GO:0046982, GO:0003677, GO:0003674, protein heterodimerization activity, DNA binding, molecular_function, GO:0035093, GO:0016567, GO:0006337, GO:0006334, GO:0006334, GO:0006334, spermatogenesis, exchange of chromosomal proteins, protein ubiquitination, nucleosome disassembly, nucleosome assembly, nucleosome assembly, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000146049 chr6 24356903 24358284 + KAAG1 protein_coding 353219 GO:0005575, cellular_component, GO:0006955, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000146054 chr5 181193924 181205293 - TRIM7 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 81786 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0016567, GO:0016567, protein ubiquitination, protein ubiquitination, 3 0 0 7 3 6 4 4 1 ENSG00000146063 chr5 181222499 181235809 + TRIM41 protein_coding This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 90933 GO:0016604, GO:0016604, GO:0005737, GO:0005730, nuclear body, nuclear body, cytoplasm, nucleolus, GO:0061630, GO:0042802, GO:0008270, GO:0005515, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, protein binding, GO:0071225, GO:0071222, GO:0051091, GO:0016567, GO:0016567, cellular response to muramyl dipeptide, cellular response to lipopolysaccharide, positive regulation of DNA-binding transcription factor activity, protein ubiquitination, protein ubiquitination, 449 444 434 315 403 428 387 326 281 ENSG00000146066 chr5 176388747 176389771 + HIGD2A protein_coding The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholog of the yeast respiratory supercomplex factor 1 (Rcf1). In mouse, the orthologous protein enhances cell survival under conditions of hypoxia. [provided by RefSeq, Sep 2016]. 192286 GO:0070469, GO:0016021, GO:0005743, GO:0005739, respirasome, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0097250, GO:0055114, GO:0043066, mitochondrial respirasome assembly, oxidation-reduction process, negative regulation of apoptotic process, 94 111 117 89 75 175 79 111 126 ENSG00000146067 chr5 177519788 177554541 - FAM193B protein_coding 54540 GO:0016607, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, nuclear speck, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, 1425 1932 1782 1924 2968 2442 2175 2112 2127 ENSG00000146070 chr6 46704201 46735693 - PLA2G7 protein_coding The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]. 7941 GO:0034364, GO:0034362, GO:0005737, GO:0005576, high-density lipoprotein particle, low-density lipoprotein particle, cytoplasm, extracellular region, GO:0047499, GO:0016788, GO:0005543, GO:0003847, GO:0003847, calcium-independent phospholipase A2 activity, hydrolase activity, acting on ester bonds, phospholipid binding, 1-alkyl-2-acetylglycerophosphocholine esterase activity, 1-alkyl-2-acetylglycerophosphocholine esterase activity, GO:0090026, GO:0062234, GO:0050729, GO:0046469, GO:0034638, GO:0034441, GO:0034440, GO:0034374, positive regulation of monocyte chemotaxis, platelet activating factor catabolic process, positive regulation of inflammatory response, platelet activating factor metabolic process, phosphatidylcholine catabolic process, plasma lipoprotein particle oxidation, lipid oxidation, low-density lipoprotein particle remodeling, 2 16 14 2 10 6 3 9 11 ENSG00000146072 chr6 47231532 47309905 - TNFRSF21 protein_coding This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]. 27242 GO:0031226, GO:0030424, GO:0005887, GO:0005887, GO:0005886, GO:0005737, intrinsic component of plasma membrane, axon, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0005515, protein binding, GO:0097252, GO:0097252, GO:0071356, GO:0051402, GO:0051402, GO:0050852, GO:0048713, GO:0042552, GO:0042130, GO:0042130, GO:0032714, GO:0032696, GO:0032693, GO:0031642, GO:0031642, GO:0030889, GO:0030889, GO:0019216, GO:0016032, GO:0007413, GO:0006959, GO:0006959, GO:0006915, GO:0002250, GO:0002250, GO:0001783, oligodendrocyte apoptotic process, oligodendrocyte apoptotic process, cellular response to tumor necrosis factor, neuron apoptotic process, neuron apoptotic process, T cell receptor signaling pathway, regulation of oligodendrocyte differentiation, myelination, negative regulation of T cell proliferation, negative regulation of T cell proliferation, negative regulation of interleukin-5 production, negative regulation of interleukin-13 production, negative regulation of interleukin-10 production, negative regulation of myelination, negative regulation of myelination, negative regulation of B cell proliferation, negative regulation of B cell proliferation, regulation of lipid metabolic process, viral process, axonal fasciculation, humoral immune response, humoral immune response, apoptotic process, adaptive immune response, adaptive immune response, B cell apoptotic process, 2 1 6 7 5 6 3 1 3 ENSG00000146083 chr5 176526697 176538025 - RNF44 protein_coding The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]. 22838 GO:0046872, GO:0005515, metal ion binding, protein binding, 3040 3567 3508 2016 2810 2738 2424 2191 2272 ENSG00000146085 chr6 49430360 49463191 - MUT protein_coding This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]. 4594 GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0072341, GO:0046872, GO:0042803, GO:0042802, GO:0042802, GO:0031419, GO:0005515, GO:0004494, GO:0004494, GO:0004494, GO:0003924, modified amino acid binding, metal ion binding, protein homodimerization activity, identical protein binding, identical protein binding, cobalamin binding, protein binding, methylmalonyl-CoA mutase activity, methylmalonyl-CoA mutase activity, methylmalonyl-CoA mutase activity, GTPase activity, GO:0050667, GO:0043547, GO:0019626, GO:0009791, GO:0009235, homocysteine metabolic process, positive regulation of GTPase activity, short-chain fatty acid catabolic process, post-embryonic development, cobalamin metabolic process, 148 141 165 136 101 105 94 76 79 ENSG00000146090 chr5 180100791 180209153 - RASGEF1C protein_coding 255426 GO:0005085, guanyl-nucleotide exchange factor activity, GO:0007264, small GTPase mediated signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000146094 chr5 177501907 177511274 - DOK3 protein_coding 79930 GO:0101003, GO:0030667, GO:0005886, ficolin-1-rich granule membrane, secretory granule membrane, plasma membrane, GO:0005515, protein binding, GO:0043312, neutrophil degranulation, 7266 6345 10475 4056 3968 4571 5316 3774 4090 ENSG00000146109 chr6 26596952 26600744 + ABT1 protein_coding Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]. 29777 GO:0005730, GO:0005667, GO:0005634, nucleolus, transcription regulator complex, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003713, GO:0003677, protein binding, RNA binding, RNA binding, transcription coactivator activity, DNA binding, GO:1903508, GO:0034462, GO:0021522, GO:0006366, GO:0006357, GO:0000480, GO:0000472, GO:0000447, positive regulation of nucleic acid-templated transcription, small-subunit processome assembly, spinal cord motor neuron differentiation, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 153 113 158 96 106 120 96 86 144 ENSG00000146112 chr6 30676389 30687895 - PPP1R18 protein_coding Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]. 170954 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0019902, GO:0005515, GO:0003779, phosphatase binding, protein binding, actin binding, 0 0 0 0 0 0 0 0 0 ENSG00000146122 chr6 39792298 39904877 + DAAM2 protein_coding 23500 GO:0070062, extracellular exosome, GO:0031267, GO:0003779, small GTPase binding, actin binding, GO:2000050, GO:2000050, GO:0090263, GO:0090263, GO:0060828, GO:0048715, GO:0048715, GO:0030036, GO:0021516, GO:0016055, GO:0007368, regulation of non-canonical Wnt signaling pathway, regulation of non-canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, regulation of canonical Wnt signaling pathway, negative regulation of oligodendrocyte differentiation, negative regulation of oligodendrocyte differentiation, actin cytoskeleton organization, dorsal spinal cord development, Wnt signaling pathway, determination of left/right symmetry, 155 157 426 114 156 322 130 99 223 ENSG00000146143 chr6 57314805 57646849 + PRIM2 protein_coding This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]. 5558 GO:0005658, GO:0005654, alpha DNA polymerase:primase complex, nucleoplasm, GO:0051539, GO:0046872, GO:0005515, GO:0003896, GO:0003677, 4 iron, 4 sulfur cluster binding, metal ion binding, protein binding, DNA primase activity, DNA binding, GO:0032201, GO:0006270, GO:0006269, GO:0000082, telomere maintenance via semi-conservative replication, DNA replication initiation, DNA replication, synthesis of RNA primer, G1/S transition of mitotic cell cycle, 11 7 18 31 7 24 27 7 15 ENSG00000146147 chr6 53929982 54266280 + MLIP protein_coding 90523 GO:0042383, GO:0042383, GO:0031981, GO:0016605, GO:0016605, GO:0005635, GO:0005635, GO:0005634, sarcolemma, sarcolemma, nuclear lumen, PML body, PML body, nuclear envelope, nuclear envelope, nucleus, GO:0005521, GO:0003714, lamin binding, transcription corepressor activity, GO:1903243, GO:0045944, GO:0010614, GO:0000122, GO:0000122, negative regulation of cardiac muscle hypertrophy in response to stress, positive regulation of transcription by RNA polymerase II, negative regulation of cardiac muscle hypertrophy, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000146151 chr6 55434369 55579214 - HMGCLL1 protein_coding 54511 GO:0048471, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005789, GO:0005783, GO:0005783, perinuclear region of cytoplasm, membrane, cytosol, cytosol, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0046872, GO:0046872, GO:0004419, GO:0004419, GO:0004419, metal ion binding, metal ion binding, hydroxymethylglutaryl-CoA lyase activity, hydroxymethylglutaryl-CoA lyase activity, hydroxymethylglutaryl-CoA lyase activity, GO:0046951, GO:0046951, GO:0046951, GO:0006629, GO:0006552, ketone body biosynthetic process, ketone body biosynthetic process, ketone body biosynthetic process, lipid metabolic process, leucine catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000146166 chr6 63275951 63319977 - LGSN protein_coding This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]. 51557 GO:0016020, GO:0005886, GO:0005737, membrane, plasma membrane, cytoplasm, GO:0004356, glutamate-ammonia ligase activity, GO:0019740, GO:0006542, nitrogen utilization, glutamine biosynthetic process, 0 2 2 0 3 8 3 10 4 ENSG00000146192 chr6 37005646 37029070 + FGD2 protein_coding The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]. 221472 GO:0032587, GO:0031901, GO:0030027, GO:0005856, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005634, GO:0001726, ruffle membrane, early endosome membrane, lamellipodium, cytoskeleton, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleus, ruffle, GO:1901981, GO:0046872, GO:0031267, GO:0005515, GO:0005085, GO:0005085, phosphatidylinositol phosphate binding, metal ion binding, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0046847, GO:0046847, GO:0043507, GO:0043087, GO:0043065, GO:0030036, GO:0008360, GO:0007186, GO:0007010, GO:0007010, regulation of small GTPase mediated signal transduction, filopodium assembly, filopodium assembly, positive regulation of JUN kinase activity, regulation of GTPase activity, positive regulation of apoptotic process, actin cytoskeleton organization, regulation of cell shape, G protein-coupled receptor signaling pathway, cytoskeleton organization, cytoskeleton organization, 21 31 36 38 58 51 42 58 25 ENSG00000146197 chr6 35214419 35253079 + SCUBE3 protein_coding This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 222663 GO:0009986, GO:0009986, GO:0005886, GO:0005886, GO:0005615, cell surface, cell surface, plasma membrane, plasma membrane, extracellular space, GO:0042802, GO:0005515, GO:0005509, identical protein binding, protein binding, calcium ion binding, GO:0045880, GO:0022617, GO:0007165, positive regulation of smoothened signaling pathway, extracellular matrix disassembly, signal transduction, 10 13 11 16 25 28 21 18 43 ENSG00000146205 chr2 241188509 241225377 + ANO7 protein_coding This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]. 50636 GO:0030054, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005783, cell junction, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, GO:0046983, GO:0017128, GO:0005254, GO:0005229, GO:0005229, protein dimerization activity, phospholipid scramblase activity, chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0061591, GO:0061590, GO:0061589, GO:0061588, GO:0055085, GO:0034220, GO:0006821, chloride transmembrane transport, calcium activated galactosylceramide scrambling, calcium activated phosphatidylcholine scrambling, calcium activated phosphatidylserine scrambling, calcium activated phospholipid scrambling, transmembrane transport, ion transmembrane transport, chloride transport, 0 4 0 0 1 0 0 1 0 ENSG00000146215 chr6 43299710 43308797 - CRIP3 protein_coding 401262 GO:0005737, cytoplasm, GO:0046872, metal ion binding, 3 1 5 3 1 5 1 6 7 ENSG00000146216 chr6 43243680 43288259 + TTBK1 protein_coding 84630 GO:0048471, GO:0043025, GO:0005875, GO:0005829, GO:0005737, GO:0005654, GO:0005634, perinuclear region of cytoplasm, neuronal cell body, microtubule associated complex, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0050321, GO:0048156, GO:0005524, GO:0004713, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, tau protein binding, ATP binding, protein tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2001056, GO:1904031, GO:1903980, GO:0061890, GO:0032273, GO:0032091, GO:0021762, GO:0018108, GO:0018108, GO:0018107, GO:0018105, GO:0018105, GO:0010629, GO:0010628, GO:0007611, GO:0006468, positive regulation of cysteine-type endopeptidase activity, positive regulation of cyclin-dependent protein kinase activity, positive regulation of microglial cell activation, positive regulation of astrocyte activation, positive regulation of protein polymerization, negative regulation of protein binding, substantia nigra development, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, negative regulation of gene expression, positive regulation of gene expression, learning or memory, protein phosphorylation, 0 0 0 2 0 0 0 0 0 ENSG00000146221 chr6 44278743 44297688 - TCTE1 protein_coding 202500 GO:0036126, GO:0005856, GO:0005737, sperm flagellum, cytoskeleton, cytoplasm, GO:0030317, flagellated sperm motility, 0 1 0 2 1 0 1 0 0 ENSG00000146223 chr6 42879618 42889925 + RPL7L1 protein_coding 285855 GO:0022625, GO:0005730, cytosolic large ribosomal subunit, nucleolus, GO:0005515, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0001825, GO:0000463, blastocyst formation, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 101 96 156 158 85 177 108 73 88 ENSG00000146232 chr6 44258166 44265788 - NFKBIE protein_coding The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]. 4794 GO:0048471, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0001650, perinuclear region of cytoplasm, cytosol, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, fibrillar center, GO:0005515, protein binding, GO:0042994, GO:0042942, cytoplasmic sequestering of transcription factor, D-serine transport, 388 305 1731 183 154 895 433 252 1025 ENSG00000146233 chr6 46549580 46652830 - CYP39A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 51302 GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0020037, GO:0008396, GO:0008396, GO:0008396, GO:0008395, GO:0008387, GO:0005506, heme binding, oxysterol 7-alpha-hydroxylase activity, oxysterol 7-alpha-hydroxylase activity, oxysterol 7-alpha-hydroxylase activity, steroid hydroxylase activity, steroid 7-alpha-hydroxylase activity, iron ion binding, GO:0055114, GO:0042632, GO:0016125, GO:0007586, GO:0006707, GO:0006699, GO:0006699, GO:0006699, GO:0006699, oxidation-reduction process, cholesterol homeostasis, sterol metabolic process, digestion, cholesterol catabolic process, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, 1 1 3 1 0 0 0 0 0 ENSG00000146242 chr6 82363206 82370828 + TPBG protein_coding This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]. 7162 GO:0009986, GO:0005887, GO:0005783, cell surface, integral component of plasma membrane, endoplasmic reticulum, GO:0051965, GO:0007155, positive regulation of synapse assembly, cell adhesion, 1 0 0 5 1 0 3 6 0 ENSG00000146243 chr6 78867472 78946440 + IRAK1BP1 protein_coding 134728 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0007249, GO:0007249, GO:0006955, I-kappaB kinase/NF-kappaB signaling, I-kappaB kinase/NF-kappaB signaling, immune response, 182 184 255 131 228 161 156 156 191 ENSG00000146247 chr6 78935867 79078236 - PHIP protein_coding This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]. 55023 GO:0005634, GO:0005634, nucleus, nucleus, GO:0070577, GO:0005515, GO:0005158, lysine-acetylated histone binding, protein binding, insulin receptor binding, GO:2001237, GO:0045944, GO:0045893, GO:0045840, GO:0043568, GO:0043066, GO:0022604, GO:0008360, GO:0008286, GO:0008284, GO:0007010, GO:0007010, GO:0006357, GO:0001932, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of mitotic nuclear division, positive regulation of insulin-like growth factor receptor signaling pathway, negative regulation of apoptotic process, regulation of cell morphogenesis, regulation of cell shape, insulin receptor signaling pathway, positive regulation of cell population proliferation, cytoskeleton organization, cytoskeleton organization, regulation of transcription by RNA polymerase II, regulation of protein phosphorylation, 3288 3369 3995 2041 3175 3386 2846 2169 2767 ENSG00000146250 chr6 83512538 83525704 + PRSS35 protein_coding 167681 GO:0005576, extracellular region, GO:0005515, protein binding, 0 1 2 0 0 6 5 1 0 ENSG00000146263 chr6 97142161 97283217 - MMS22L protein_coding The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]. 253714 GO:0043596, GO:0043596, GO:0042555, GO:0042555, GO:0035101, GO:0005829, GO:0005654, nuclear replication fork, nuclear replication fork, MCM complex, MCM complex, FACT complex, cytosol, nucleoplasm, GO:0005515, protein binding, GO:0031297, GO:0031297, GO:0000724, GO:0000724, replication fork processing, replication fork processing, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 18 21 32 40 38 39 25 22 20 ENSG00000146267 chr6 99271169 99350062 - FAXC protein_coding 84553 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, 0 0 0 0 0 2 0 0 0 ENSG00000146276 chr6 89177501 89231278 - GABRR1 protein_coding GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 2569 GO:1902711, GO:0098982, GO:0098978, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0005887, GO:0005886, GABA-A receptor complex, GABA-ergic synapse, glutamatergic synapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0099507, GO:0030594, GO:0005254, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, ligand-gated ion channel activity involved in regulation of presynaptic membrane potential, neurotransmitter receptor activity, chloride channel activity, GABA-A receptor activity, GO:1902476, GO:0099505, GO:0060078, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007214, GO:0007165, chloride transmembrane transport, regulation of presynaptic membrane potential, regulation of postsynaptic membrane potential, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000146278 chr6 89080751 89085160 + PNRC1 protein_coding 10957 GO:0005634, nucleus, GO:0005515, protein binding, 6097 7782 10496 4965 11435 12448 6987 9914 12008 ENSG00000146281 chr6 89146050 89165565 + PM20D2 protein_coding 135293 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0071713, GO:0042802, GO:0016805, GO:0016805, GO:0005515, para-aminobenzoyl-glutamate hydrolase activity, identical protein binding, dipeptidase activity, dipeptidase activity, protein binding, GO:0046657, GO:0032268, GO:0006508, folic acid catabolic process, regulation of cellular protein metabolic process, proteolysis, 136 105 124 149 132 84 114 79 87 ENSG00000146282 chr6 87514378 87590003 - RARS2 protein_coding This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 57038 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005524, GO:0005515, GO:0004814, GO:0004814, GO:0003723, ATP binding, protein binding, arginine-tRNA ligase activity, arginine-tRNA ligase activity, RNA binding, GO:0032543, GO:0006420, GO:0006418, mitochondrial translation, arginyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 152 149 138 147 170 166 171 144 111 ENSG00000146285 chr6 107704104 107824317 - SCML4 protein_coding 256380 GO:0005634, nucleus, GO:0042393, GO:0003682, histone binding, chromatin binding, GO:0045892, negative regulation of transcription, DNA-templated, 215 220 223 199 213 287 228 182 232 ENSG00000146350 chr6 121079494 121334745 - TBC1D32 protein_coding This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 221322 GO:0005929, GO:0005737, cilium, cytoplasm, GO:0005515, protein binding, GO:1905515, GO:0061512, GO:0060831, GO:0060021, GO:0042733, GO:0007507, GO:0007368, GO:0003406, GO:0002088, GO:0001822, non-motile cilium assembly, protein localization to cilium, smoothened signaling pathway involved in dorsal/ventral neural tube patterning, roof of mouth development, embryonic digit morphogenesis, heart development, determination of left/right symmetry, retinal pigment epithelium development, lens development in camera-type eye, kidney development, 12 3 14 22 11 30 14 8 12 ENSG00000146352 chr6 122995971 123072927 + CLVS2 protein_coding This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]. 134829 GO:0032588, GO:0031901, GO:0030136, GO:0030136, GO:0005802, GO:0005802, GO:0005768, GO:0005768, trans-Golgi network membrane, early endosome membrane, clathrin-coated vesicle, clathrin-coated vesicle, trans-Golgi network, trans-Golgi network, endosome, endosome, GO:1902936, GO:0080025, GO:0005515, phosphatidylinositol bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, protein binding, GO:0007040, GO:0007040, lysosome organization, lysosome organization, 0 0 0 0 0 0 0 0 0 ENSG00000146360 chr6 109978256 109980718 + GPR6 protein_coding 2830 GO:0005887, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0038036, GO:0004930, sphingosine-1-phosphate receptor activity, G protein-coupled receptor activity, GO:0019222, GO:0007204, GO:0007189, GO:0007186, regulation of metabolic process, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000146373 chr6 124962545 125092633 + RNF217 protein_coding This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]. 154214 GO:0016021, GO:0005829, GO:0005737, GO:0000151, integral component of membrane, cytosol, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0046872, GO:0031624, GO:0004842, ubiquitin protein ligase activity, metal ion binding, ubiquitin conjugating enzyme binding, ubiquitin-protein transferase activity, GO:0032436, GO:0006511, GO:0006511, GO:0000209, GO:0000209, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, protein polyubiquitination, 9 14 25 13 18 58 10 17 35 ENSG00000146374 chr6 127118604 127197765 + RSPO3 protein_coding This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]. 84870 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0008201, GO:0005109, GO:0005102, heparin binding, frizzled binding, signaling receptor binding, GO:2000096, GO:2000052, GO:0090263, GO:0060670, GO:0030177, GO:0030177, GO:0030111, GO:0016055, GO:0002040, GO:0001974, positive regulation of Wnt signaling pathway, planar cell polarity pathway, positive regulation of non-canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, branching involved in labyrinthine layer morphogenesis, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, regulation of Wnt signaling pathway, Wnt signaling pathway, sprouting angiogenesis, blood vessel remodeling, 0 0 0 0 0 0 0 0 0 ENSG00000146376 chr6 129576132 129710225 - ARHGAP18 protein_coding ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]. 93663 GO:0016607, GO:0005886, GO:0005881, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0001726, nuclear speck, plasma membrane, cytoplasmic microtubule, cytosol, cytosol, cytoplasm, cytoplasm, ruffle, GO:0045296, GO:0005096, GO:0005096, cadherin binding, GTPase activator activity, GTPase activator activity, GO:2000145, GO:0051056, GO:0051056, GO:0051056, GO:0043547, GO:0032956, GO:0030833, GO:0030833, GO:0008360, GO:0007264, regulation of cell motility, regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of actin cytoskeleton organization, regulation of actin filament polymerization, regulation of actin filament polymerization, regulation of cell shape, small GTPase mediated signal transduction, 54 75 125 36 58 94 42 35 63 ENSG00000146378 chr6 132617022 132624275 - TAAR2 protein_coding 9287 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, GO:0001594, G protein-coupled receptor activity, trace-amine receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000146383 chr6 132570322 132571359 + TAAR6 protein_coding This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010]. 319100 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, GO:0001594, G protein-coupled receptor activity, trace-amine receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000146385 chr6 132552693 132553721 + TAAR8 protein_coding This gene is part of the trace amine receptor cluster on chromosome 6 and encodes an orphan G-protein coupled receptor. Upregulated expression of this gene in astroglial cells upon exposure to lipopolysaccharides suggests a function for the encoded protein in the brain. [provided by RefSeq, Jul 2016]. 83551 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, GO:0001594, G protein-coupled receptor activity, trace-amine receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000146386 chr6 139028682 139043302 + ABRACL protein_coding 58527 GO:0032970, regulation of actin filament-based process, 55 59 93 119 92 173 101 79 133 ENSG00000146399 chr6 132644984 132646003 - TAAR1 protein_coding The protein encoded by this gene is a G-protein coupled receptor activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning in neurologic systems, there is evidence that this gene is involved in blood cell and immunologic functions as well. This gene is thought to be intronless. [provided by RefSeq, Nov 2015]. 134864 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, GO:0001594, G protein-coupled receptor activity, trace-amine receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 5 0 0 0 ENSG00000146409 chr6 132769370 132813339 - SLC18B1 protein_coding This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]. 116843 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, transmembrane transport, 21 9 14 30 27 20 30 21 16 ENSG00000146410 chr6 136231024 136250335 - MTFR2 protein_coding 113115 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0009060, GO:0009060, GO:0007005, GO:0000266, GO:0000266, aerobic respiration, aerobic respiration, mitochondrion organization, mitochondrial fission, mitochondrial fission, 15 10 20 32 72 67 31 20 46 ENSG00000146411 chr6 133988697 134052636 - SLC2A12 protein_coding SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]. 154091 GO:0048471, GO:0016021, GO:0012505, GO:0005886, perinuclear region of cytoplasm, integral component of membrane, endomembrane system, plasma membrane, GO:0022857, transmembrane transporter activity, GO:1904659, GO:0008645, glucose transmembrane transport, hexose transmembrane transport, 0 6 0 0 3 5 1 2 1 ENSG00000146414 chr6 145864245 145964423 - SHPRH protein_coding SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008]. 257218 GO:0005654, GO:0000786, nucleoplasm, nucleosome, GO:0061630, GO:0061630, GO:0046872, GO:0031625, GO:0005524, GO:0005515, GO:0004842, GO:0004386, GO:0003677, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, helicase activity, DNA binding, GO:0016567, GO:0006974, GO:0006974, GO:0006334, GO:0006281, GO:0000209, GO:0000209, protein ubiquitination, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, nucleosome assembly, DNA repair, protein polyubiquitination, protein polyubiquitination, 61 86 113 123 29 119 115 54 66 ENSG00000146416 chr6 143060496 143340304 + AIG1 protein_coding 51390 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0016787, GO:0005515, hydrolase activity, protein binding, GO:0042758, long-chain fatty acid catabolic process, 120 142 127 89 129 96 101 112 83 ENSG00000146425 chr6 158636474 158644739 - DYNLT1 protein_coding This gene encodes a component of the motor complex, cytoplasmic dynein, which transports cellular cargo along microtubules in the cell. The encoded protein regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protein encoded by this gene interacts with viral proteins, like the minor capsid protein L2 of human papillomavirus, and is required for dynein-mediated delivery of the viral nucleic acid to the host nucleus. This protein interacts with oncogenic nucleoporins to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]. 6993 GO:1904813, GO:0099503, GO:0043657, GO:0034774, GO:0005881, GO:0005868, GO:0005868, GO:0005819, GO:0005794, GO:0005739, GO:0005576, ficolin-1-rich granule lumen, secretory vesicle, host cell, secretory granule lumen, cytoplasmic microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, spindle, Golgi apparatus, mitochondrion, extracellular region, GO:0042802, GO:0005515, GO:0003774, identical protein binding, protein binding, motor activity, GO:0075521, GO:0051301, GO:0050768, GO:0046718, GO:0043312, GO:0019060, GO:0008277, GO:0000132, microtubule-dependent intracellular transport of viral material towards nucleus, cell division, negative regulation of neurogenesis, viral entry into host cell, neutrophil degranulation, intracellular transport of viral protein in host cell, regulation of G protein-coupled receptor signaling pathway, establishment of mitotic spindle orientation, 677 545 747 232 355 263 279 273 339 ENSG00000146426 chr6 154832697 155257723 + TIAM2 protein_coding This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 26230 GO:0070062, GO:0045202, GO:0043204, GO:0030426, GO:0030175, GO:0030027, GO:0016020, GO:0005829, extracellular exosome, synapse, perikaryon, growth cone, filopodium, lamellipodium, membrane, cytosol, GO:0005096, GO:0005085, GO:0005085, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0090630, GO:0051056, GO:0050772, GO:0043065, GO:0019216, GO:0007264, GO:0007186, activation of GTPase activity, regulation of small GTPase mediated signal transduction, positive regulation of axonogenesis, positive regulation of apoptotic process, regulation of lipid metabolic process, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, 161 194 121 178 238 103 122 145 66 ENSG00000146433 chr6 158536436 158635428 + TMEM181 protein_coding The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010]. 57583 GO:0016021, integral component of membrane, GO:0015643, GO:0015643, toxic substance binding, toxic substance binding, GO:0009405, pathogenesis, 175 154 354 210 167 308 235 132 181 ENSG00000146453 chr6 159800249 159820704 + PNLDC1 protein_coding 154197 GO:0016021, GO:0005789, GO:0005783, GO:0005783, GO:0005737, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0046872, GO:0004535, GO:0004535, GO:0003723, GO:0000175, metal ion binding, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0001825, GO:0000289, GO:0000289, GO:0000184, RNA phosphodiester bond hydrolysis, exonucleolytic, blastocyst formation, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 0 0 0 0 1 1 0 1 0 ENSG00000146457 chr6 159725585 159756319 + WTAP protein_coding The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012]. 9589 GO:0036396, GO:0031965, GO:0016607, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, RNA N6-methyladenosine methyltransferase complex, nuclear membrane, nuclear speck, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0080009, GO:0080009, GO:0016070, GO:0008380, GO:0007275, GO:0007049, GO:0006397, GO:0000381, GO:0000381, mRNA methylation, mRNA methylation, RNA metabolic process, RNA splicing, multicellular organism development, cell cycle, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 2341 2126 3820 1280 1701 2116 1535 1332 1793 ENSG00000146463 chr1 35268967 35422058 + ZMYM4 protein_coding 9202 GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:0022604, GO:0007275, GO:0007010, regulation of cell morphogenesis, multicellular organism development, cytoskeleton organization, 52 52 79 121 78 107 66 46 71 ENSG00000146469 chr6 152750798 152759765 + VIP protein_coding The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2014]. 7432 GO:0043204, GO:0043005, GO:0005576, perikaryon, neuron projection, extracellular region, GO:0051428, GO:0051428, GO:0005515, GO:0005184, GO:0005179, peptide hormone receptor binding, peptide hormone receptor binding, protein binding, neuropeptide hormone activity, hormone activity, GO:0097755, GO:0070459, GO:0060406, GO:0051930, GO:0048662, GO:0048255, GO:0048242, GO:0045732, GO:0045732, GO:0043267, GO:0043066, GO:0032880, GO:0032880, GO:0032812, GO:0008284, GO:0007611, GO:0007589, GO:0007200, GO:0007189, GO:0007189, GO:0007186, GO:0001938, positive regulation of blood vessel diameter, prolactin secretion, positive regulation of penile erection, regulation of sensory perception of pain, negative regulation of smooth muscle cell proliferation, mRNA stabilization, epinephrine secretion, positive regulation of protein catabolic process, positive regulation of protein catabolic process, negative regulation of potassium ion transport, negative regulation of apoptotic process, regulation of protein localization, regulation of protein localization, positive regulation of epinephrine secretion, positive regulation of cell population proliferation, learning or memory, body fluid secretion, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, positive regulation of endothelial cell proliferation, 0 1 1 0 0 0 0 0 0 ENSG00000146476 chr6 151452258 151470101 + ARMT1 protein_coding 79624 GO:0051998, GO:0046872, GO:0019899, GO:0016791, GO:0008757, GO:0005515, protein carboxyl O-methyltransferase activity, metal ion binding, enzyme binding, phosphatase activity, S-adenosylmethionine-dependent methyltransferase activity, protein binding, GO:2001020, GO:2001020, GO:0032259, GO:0016311, GO:0006974, GO:0006479, regulation of response to DNA damage stimulus, regulation of response to DNA damage stimulus, methylation, dephosphorylation, cellular response to DNA damage stimulus, protein methylation, 195 161 244 100 139 172 117 100 70 ENSG00000146477 chr6 160348268 160452581 + SLC22A3 protein_coding Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008]. 6581 GO:0098793, GO:0043025, GO:0016020, GO:0005887, GO:0005886, GO:0005886, presynapse, neuronal cell body, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0019534, GO:0015651, GO:0015101, GO:0015101, GO:0008514, GO:0008504, GO:0008504, GO:0005515, GO:0005330, GO:0005326, GO:0005326, toxin transmembrane transporter activity, quaternary ammonium group transmembrane transporter activity, organic cation transmembrane transporter activity, organic cation transmembrane transporter activity, organic anion transmembrane transporter activity, monoamine transmembrane transporter activity, monoamine transmembrane transporter activity, protein binding, dopamine:sodium symporter activity, neurotransmitter transmembrane transporter activity, neurotransmitter transmembrane transporter activity, GO:1901998, GO:0150104, GO:0090494, GO:0051625, GO:0051620, GO:0051615, GO:0051615, GO:0051610, GO:0042908, GO:0032098, GO:0015844, GO:0015718, GO:0015711, GO:0015697, GO:0015695, GO:0006855, GO:0006836, GO:0001692, toxin transport, transport across blood-brain barrier, dopamine uptake, epinephrine uptake, norepinephrine uptake, histamine uptake, histamine uptake, serotonin uptake, xenobiotic transport, regulation of appetite, monoamine transport, monocarboxylic acid transport, organic anion transport, quaternary ammonium group transport, organic cation transport, drug transmembrane transport, neurotransmitter transport, histamine metabolic process, 1 0 0 0 0 0 0 0 0 ENSG00000146521 chr6 167784537 167796859 - LINC01558 lincRNA 26238 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000146530 chr7 12330885 12403941 - VWDE protein_coding 221806 GO:0009986, GO:0005576, cell surface, extracellular region, GO:0005102, signaling receptor binding, GO:0048856, anatomical structure development, 1 1 0 4 1 0 1 0 0 ENSG00000146535 chr7 2728112 2844324 - GNA12 protein_coding 2768 GO:0031526, GO:0016328, GO:0005925, GO:0005886, GO:0005834, GO:0005737, brush border membrane, lateral plasma membrane, focal adhesion, plasma membrane, heterotrimeric G-protein complex, cytoplasm, GO:0046872, GO:0031752, GO:0031683, GO:0005525, GO:0005515, GO:0003924, GO:0001664, metal ion binding, D5 dopamine receptor binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activity, G protein-coupled receptor binding, GO:0042733, GO:0042493, GO:0032434, GO:0032006, GO:0030168, GO:0030154, GO:0010762, GO:0008360, GO:0007596, GO:0007266, GO:0007188, GO:0007186, GO:0001701, embryonic digit morphogenesis, response to drug, regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of TOR signaling, platelet activation, cell differentiation, regulation of fibroblast migration, regulation of cell shape, blood coagulation, Rho protein signal transduction, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, in utero embryonic development, 19 21 46 35 27 49 38 29 23 ENSG00000146540 chr7 996986 1138260 - C7orf50 protein_coding 84310 GO:0005515, GO:0003723, protein binding, RNA binding, 48 40 100 40 61 89 63 36 54 ENSG00000146555 chr7 3301448 4269000 + SDK1 protein_coding The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 221935 GO:0045202, GO:0045202, GO:0016021, GO:0005886, synapse, synapse, integral component of membrane, plasma membrane, GO:0042802, identical protein binding, GO:0060998, GO:0048148, GO:0045216, GO:0010842, GO:0010842, GO:0007416, GO:0007416, GO:0007156, GO:0007156, regulation of dendritic spine development, behavioral response to cocaine, cell-cell junction organization, retina layer formation, retina layer formation, synapse assembly, synapse assembly, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 6 14 24 3 7 15 10 12 18 ENSG00000146556 chr2 113588550 113599043 + WASH2P transcribed_unprocessed_pseudogene 159 151 194 349 257 225 261 231 239 ENSG00000146574 chr7 6794134 6826770 - CCZ1B protein_coding 221960 GO:0043231, GO:0043231, GO:0035658, GO:0005765, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, Mon1-Ccz1 complex, lysosomal membrane, GO:0016192, vesicle-mediated transport, 99 145 93 86 271 138 149 213 86 ENSG00000146576 chr7 6590017 6608726 + C7orf26 protein_coding 79034 226 221 282 161 189 155 140 212 184 ENSG00000146587 chr7 5045821 5069488 + RBAK protein_coding This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011]. 57786 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0008270, GO:0005515, GO:0000981, GO:0000977, zinc ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, GO:0006355, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 67 75 108 112 90 107 85 78 73 ENSG00000146592 chr7 28299321 28825894 + CREB5 protein_coding The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 9586 GO:0070062, GO:0005634, GO:0000785, GO:0000785, extracellular exosome, nucleus, chromatin, chromatin, GO:1990837, GO:0046872, GO:0035497, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, cAMP response element binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0006357, GO:0006357, positive regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 4856 5030 5305 2553 4703 4570 3480 3423 4205 ENSG00000146618 chr7 19144782 19145421 - FERD3L protein_coding 222894 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0050767, GO:0048468, GO:0045892, GO:0033504, GO:0032502, GO:0006357, GO:0000122, regulation of neurogenesis, cell development, negative regulation of transcription, DNA-templated, floor plate development, developmental process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000146648 chr7 55019021 55211628 + EGFR protein_coding The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]. 1956 GO:0097489, GO:0070435, GO:0048471, GO:0045202, GO:0045121, GO:0045121, GO:0043235, GO:0043235, GO:0032991, GO:0031965, GO:0031901, GO:0030665, GO:0030139, GO:0030054, GO:0016324, GO:0016323, GO:0016020, GO:0010008, GO:0009986, GO:0009925, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005768, GO:0005768, GO:0005737, GO:0005634, GO:0005615, GO:0000139, multivesicular body, internal vesicle lumen, Shc-EGFR complex, perinuclear region of cytoplasm, synapse, membrane raft, membrane raft, receptor complex, receptor complex, protein-containing complex, nuclear membrane, early endosome membrane, clathrin-coated vesicle membrane, endocytic vesicle, cell junction, apical plasma membrane, basolateral plasma membrane, membrane, endosome membrane, cell surface, basal plasma membrane, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endosome, endosome, cytoplasm, nucleus, extracellular space, Golgi membrane, GO:0051117, GO:0051015, GO:0048408, GO:0045296, GO:0042802, GO:0031625, GO:0030235, GO:0019903, GO:0019901, GO:0019900, GO:0019899, GO:0005524, GO:0005516, GO:0005515, GO:0005178, GO:0005006, GO:0005006, GO:0005006, GO:0005006, GO:0004888, GO:0004714, GO:0004714, GO:0004713, GO:0004713, GO:0004713, GO:0004709, GO:0003690, GO:0003682, GO:0001618, ATPase binding, actin filament binding, epidermal growth factor binding, cadherin binding, identical protein binding, ubiquitin protein ligase binding, nitric-oxide synthase regulator activity, protein phosphatase binding, protein kinase binding, kinase binding, enzyme binding, ATP binding, calmodulin binding, protein binding, integrin binding, epidermal growth factor-activated receptor activity, epidermal growth factor-activated receptor activity, epidermal growth factor-activated receptor activity, epidermal growth factor-activated receptor activity, transmembrane signaling receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, MAP kinase kinase kinase activity, double-stranded DNA binding, chromatin binding, virus receptor activity, GO:2000145, GO:1905208, GO:1903800, GO:1903078, GO:1902722, GO:1901224, GO:1901185, GO:1900087, GO:1900020, GO:0098609, GO:0097755, GO:0097421, GO:0090263, GO:0071549, GO:0071392, GO:0071364, GO:0071276, GO:0071260, GO:0071230, GO:0070374, GO:0070374, GO:0070372, GO:0070141, GO:0061029, GO:0061024, GO:0060571, GO:0051968, GO:0051897, GO:0051897, GO:0051592, GO:0051205, GO:0050999, GO:0050730, GO:0050729, GO:0050679, GO:0050679, GO:0048812, GO:0048661, GO:0048546, GO:0048146, GO:0048143, GO:0046777, GO:0046718, GO:0046328, GO:0045944, GO:0045930, GO:0045907, GO:0045893, GO:0045780, GO:0045746, GO:0045740, GO:0045739, GO:0045737, GO:0043586, GO:0043406, GO:0043066, GO:0043066, GO:0043006, GO:0042743, GO:0042698, GO:0042327, GO:0042177, GO:0042060, GO:0042059, GO:0038128, GO:0038083, GO:0038083, GO:0035690, GO:0034614, GO:0033674, GO:0033594, GO:0033590, GO:0033138, GO:0032930, GO:0030335, GO:0030324, GO:0030307, GO:0030154, GO:0021795, GO:0018108, GO:0016101, GO:0014066, GO:0010960, GO:0010750, GO:0008284, GO:0008284, GO:0008284, GO:0007623, GO:0007611, GO:0007494, GO:0007435, GO:0007275, GO:0007202, GO:0007173, GO:0007173, GO:0007173, GO:0007169, GO:0007166, GO:0007165, GO:0007165, GO:0006970, GO:0006412, GO:0006357, GO:0001942, GO:0001934, GO:0001892, GO:0001503, GO:0000186, GO:0000165, regulation of cell motility, negative regulation of cardiocyte differentiation, positive regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of protein localization to plasma membrane, positive regulation of prolactin secretion, positive regulation of NIK/NF-kappaB signaling, negative regulation of ERBB signaling pathway, positive regulation of G1/S transition of mitotic cell cycle, positive regulation of protein kinase C activity, cell-cell adhesion, positive regulation of blood vessel diameter, liver regeneration, positive regulation of canonical Wnt signaling pathway, cellular response to dexamethasone stimulus, cellular response to estradiol stimulus, cellular response to epidermal growth factor stimulus, cellular response to cadmium ion, cellular response to mechanical stimulus, cellular response to amino acid stimulus, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, regulation of ERK1 and ERK2 cascade, response to UV-A, eyelid development in camera-type eye, membrane organization, morphogenesis of an epithelial fold, positive regulation of synaptic transmission, glutamatergic, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, response to calcium ion, protein insertion into membrane, regulation of nitric-oxide synthase activity, regulation of peptidyl-tyrosine phosphorylation, positive regulation of inflammatory response, positive regulation of epithelial cell proliferation, positive regulation of epithelial cell proliferation, neuron projection morphogenesis, positive regulation of smooth muscle cell proliferation, digestive tract morphogenesis, positive regulation of fibroblast proliferation, astrocyte activation, protein autophosphorylation, viral entry into host cell, regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, negative regulation of mitotic cell cycle, positive regulation of vasoconstriction, positive regulation of transcription, DNA-templated, positive regulation of bone resorption, negative regulation of Notch signaling pathway, positive regulation of DNA replication, positive regulation of DNA repair, positive regulation of cyclin-dependent protein serine/threonine kinase activity, tongue development, positive regulation of MAP kinase activity, negative regulation of apoptotic process, negative regulation of apoptotic process, activation of phospholipase A2 activity by calcium-mediated signaling, hydrogen peroxide metabolic process, ovulation cycle, positive regulation of phosphorylation, negative regulation of protein catabolic process, wound healing, negative regulation of epidermal growth factor receptor signaling pathway, ERBB2 signaling pathway, peptidyl-tyrosine autophosphorylation, peptidyl-tyrosine autophosphorylation, cellular response to drug, cellular response to reactive oxygen species, positive regulation of kinase activity, response to hydroxyisoflavone, response to cobalamin, positive regulation of peptidyl-serine phosphorylation, positive regulation of superoxide anion generation, positive regulation of cell migration, lung development, positive regulation of cell growth, cell differentiation, cerebral cortex cell migration, peptidyl-tyrosine phosphorylation, diterpenoid metabolic process, regulation of phosphatidylinositol 3-kinase signaling, magnesium ion homeostasis, positive regulation of nitric oxide mediated signal transduction, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, circadian rhythm, learning or memory, midgut development, salivary gland morphogenesis, multicellular organism development, activation of phospholipase C activity, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, signal transduction, signal transduction, response to osmotic stress, translation, regulation of transcription by RNA polymerase II, hair follicle development, positive regulation of protein phosphorylation, embryonic placenta development, ossification, activation of MAPKK activity, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000146666 chr7 47761476 47766772 + LINC00525 antisense 84847 0 0 0 0 0 0 0 0 0 ENSG00000146670 chr11 65066300 65084164 - CDCA5 protein_coding 113130 GO:0005829, GO:0005737, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000775, cytosol, cytoplasm, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromosome, centromeric region, GO:0044877, GO:0005515, GO:0003682, protein-containing complex binding, protein binding, chromatin binding, GO:0071922, GO:0071922, GO:0051301, GO:0031536, GO:0031536, GO:0007080, GO:0007080, GO:0007076, GO:0007064, GO:0007064, GO:0007064, GO:0006302, GO:0006302, GO:0000278, regulation of cohesin loading, regulation of cohesin loading, cell division, positive regulation of exit from mitosis, positive regulation of exit from mitosis, mitotic metaphase plate congression, mitotic metaphase plate congression, mitotic chromosome condensation, mitotic sister chromatid cohesion, mitotic sister chromatid cohesion, mitotic sister chromatid cohesion, double-strand break repair, double-strand break repair, mitotic cell cycle, 5 11 13 4 2 19 2 3 34 ENSG00000146674 chr7 45912245 45921874 - IGFBP3 protein_coding This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 3486 GO:0042567, GO:0016942, GO:0005788, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0005576, insulin-like growth factor ternary complex, insulin-like growth factor binding protein complex, endoplasmic reticulum lumen, nucleus, extracellular space, extracellular space, extracellular region, extracellular region, GO:0046872, GO:0031995, GO:0031994, GO:0031994, GO:0008160, GO:0005520, GO:0005515, GO:0001968, metal ion binding, insulin-like growth factor II binding, insulin-like growth factor I binding, insulin-like growth factor I binding, protein tyrosine phosphatase activator activity, insulin-like growth factor binding, protein binding, fibronectin binding, GO:0048662, GO:0045663, GO:0044342, GO:0044267, GO:0043687, GO:0043666, GO:0043568, GO:0043567, GO:0043410, GO:0043065, GO:0042981, GO:0014912, GO:0010906, GO:0009968, GO:0008285, GO:0006915, GO:0006468, GO:0001933, GO:0001649, GO:0001558, negative regulation of smooth muscle cell proliferation, positive regulation of myoblast differentiation, type B pancreatic cell proliferation, cellular protein metabolic process, post-translational protein modification, regulation of phosphoprotein phosphatase activity, positive regulation of insulin-like growth factor receptor signaling pathway, regulation of insulin-like growth factor receptor signaling pathway, positive regulation of MAPK cascade, positive regulation of apoptotic process, regulation of apoptotic process, negative regulation of smooth muscle cell migration, regulation of glucose metabolic process, negative regulation of signal transduction, negative regulation of cell population proliferation, apoptotic process, protein phosphorylation, negative regulation of protein phosphorylation, osteoblast differentiation, regulation of cell growth, 6 8 11 8 1 14 15 9 18 ENSG00000146676 chr7 44876293 44885361 - PURB protein_coding This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]. 5814 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046332, GO:0032422, GO:0008134, GO:0005515, GO:0003729, GO:0003723, GO:0003697, GO:0000981, GO:0000977, SMAD binding, purine-rich negative regulatory element binding, transcription factor binding, protein binding, mRNA binding, RNA binding, single-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045637, GO:0030154, GO:0008283, GO:0006357, GO:0000122, regulation of myeloid cell differentiation, cell differentiation, cell population proliferation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3001 3164 2989 3458 5767 7586 4471 5610 6537 ENSG00000146677 chr7 44467897 44468304 + AC004453.1 processed_pseudogene 9 6 9 8 7 24 6 9 9 ENSG00000146678 chr7 45888357 45893668 + IGFBP1 protein_coding This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP N-terminal domain and a thyroglobulin type-I domain. The encoded protein, mainly expressed in the liver, circulates in the plasma and binds both insulin-like growth factors (IGFs) I and II, prolonging their half-lives and altering their interaction with cell surface receptors. This protein is important in cell migration and metabolism. Low levels of this protein may be associated with impaired glucose tolerance, vascular disease and hypertension in human patients. [provided by RefSeq, Aug 2017]. 3484 GO:0005794, GO:0005788, GO:0005615, GO:0005576, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0031995, GO:0031995, GO:0031994, GO:0031994, GO:0005520, GO:0005515, GO:0005102, insulin-like growth factor II binding, insulin-like growth factor II binding, insulin-like growth factor I binding, insulin-like growth factor I binding, insulin-like growth factor binding, protein binding, signaling receptor binding, GO:0090090, GO:0044267, GO:0043687, GO:0043567, GO:0042246, GO:0036499, GO:0030307, GO:0008286, GO:0007568, GO:0007165, negative regulation of canonical Wnt signaling pathway, cellular protein metabolic process, post-translational protein modification, regulation of insulin-like growth factor receptor signaling pathway, tissue regeneration, PERK-mediated unfolded protein response, positive regulation of cell growth, insulin receptor signaling pathway, aging, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000146700 chr7 76389334 76409695 - SSC4D protein_coding The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004]. 136853 GO:0016020, GO:0005576, membrane, extracellular region, GO:0005044, scavenger receptor activity, GO:0006897, endocytosis, 0 0 2 0 0 0 0 0 0 ENSG00000146701 chr7 76048051 76067508 + MDH2 protein_coding Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 4191 GO:0070062, GO:0016020, GO:0005759, GO:0005739, GO:0005739, GO:0005739, GO:0005737, GO:0005634, extracellular exosome, membrane, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, cytoplasm, nucleus, GO:0046554, GO:0043621, GO:0030060, GO:0030060, GO:0030060, GO:0003723, malate dehydrogenase (NADP+) activity, protein self-association, L-malate dehydrogenase activity, L-malate dehydrogenase activity, L-malate dehydrogenase activity, RNA binding, GO:0009060, GO:0006734, GO:0006108, GO:0006108, GO:0006107, GO:0006099, GO:0006099, GO:0006094, aerobic respiration, NADH metabolic process, malate metabolic process, malate metabolic process, oxaloacetate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, gluconeogenesis, 141 118 139 133 127 144 140 112 126 ENSG00000146707 chr7 76609986 76627261 - POMZP3 protein_coding This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]. 22932 GO:0031965, GO:0031012, GO:0005654, nuclear membrane, extracellular matrix, nucleoplasm, GO:0035804, GO:0032190, GO:0003674, structural constituent of egg coat, acrosin binding, molecular_function, GO:2000344, GO:0035803, GO:0008150, GO:0007339, positive regulation of acrosome reaction, egg coat formation, biological_process, binding of sperm to zona pellucida, 0 0 0 0 3 0 0 0 0 ENSG00000146722 chr7 75391955 75395434 - AC211486.1 transcribed_unprocessed_pseudogene 541473 0 6 6 18 15 5 6 2 5 ENSG00000146729 chr7 55951793 56000181 + NIPSNAP2 protein_coding This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]. 2631 GO:0005741, GO:0005739, GO:0005739, GO:0005739, GO:0005739, mitochondrial outer membrane, mitochondrion, mitochondrion, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:1901843, GO:0007005, GO:0006119, positive regulation of high voltage-gated calcium channel activity, mitochondrion organization, oxidative phosphorylation, 103 90 118 90 84 123 83 77 93 ENSG00000146731 chr7 56051630 56063989 + CCT6A protein_coding The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located. [provided by RefSeq, Jun 2010]. 908 GO:0070062, GO:0005874, GO:0005832, GO:0005832, GO:0005832, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, microtubule, chaperonin-containing T-complex, chaperonin-containing T-complex, chaperonin-containing T-complex, cytosol, cytosol, cytoplasm, GO:0071987, GO:0051082, GO:0005524, GO:0005515, GO:0003723, WD40-repeat domain binding, unfolded protein binding, ATP binding, protein binding, RNA binding, GO:1904874, GO:1904871, GO:1904851, GO:0050821, GO:0032212, GO:0006457, GO:0006457, positive regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, protein stabilization, positive regulation of telomere maintenance via telomerase, protein folding, protein folding, 121 112 228 190 121 239 130 90 125 ENSG00000146733 chr7 56011051 56051604 - PSPH protein_coding The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]. 5723 GO:0043005, GO:0005829, GO:0005737, neuron projection, cytosol, cytoplasm, GO:0042803, GO:0042802, GO:0005509, GO:0004647, GO:0004647, GO:0000287, GO:0000287, protein homodimerization activity, identical protein binding, calcium ion binding, phosphoserine phosphatase activity, phosphoserine phosphatase activity, magnesium ion binding, magnesium ion binding, GO:0033574, GO:0031667, GO:0016311, GO:0009612, GO:0006564, GO:0006564, GO:0006563, response to testosterone, response to nutrient levels, dephosphorylation, response to mechanical stimulus, L-serine biosynthetic process, L-serine biosynthetic process, L-serine metabolic process, 0 3 4 2 0 12 0 5 0 ENSG00000146755 chr7 73312539 73328082 - TRIM50 protein_coding 135892 GO:0016235, GO:0005829, GO:0005737, aggresome, cytosol, cytoplasm, GO:0061630, GO:0042802, GO:0008270, GO:0005515, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, protein binding, GO:0070201, GO:0016567, regulation of establishment of protein localization, protein ubiquitination, 2 2 0 0 1 2 0 2 0 ENSG00000146757 chr7 65373799 65401135 + ZNF92 protein_coding 168374 GO:0000785, chromatin, GO:0008270, GO:0005515, GO:0003700, GO:0000981, GO:0000978, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 54 45 77 49 31 60 28 26 56 ENSG00000146776 chr7 105605067 105876604 - ATXN7L1 protein_coding 222255 GO:0005515, protein binding, 66 67 76 146 101 133 85 81 77 ENSG00000146802 chr7 112762382 112790592 - TMEM168 protein_coding 64418 GO:0030133, GO:0016021, transport vesicle, integral component of membrane, 169 153 203 138 214 198 190 162 126 ENSG00000146809 chr7 123567010 123639481 + ASB15 protein_coding 142685 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000146826 chr7 100154420 100158715 - C7orf43 protein_coding 55262 GO:0072686, GO:0043231, GO:0034451, GO:0030496, GO:0005886, GO:0005737, mitotic spindle, intracellular membrane-bounded organelle, centriolar satellite, midbody, plasma membrane, cytoplasm, GO:0043014, GO:0005515, alpha-tubulin binding, protein binding, GO:0042127, regulation of cell population proliferation, 665 894 722 849 1373 1058 889 1081 1032 ENSG00000146828 chr7 100826820 100867009 + SLC12A9 protein_coding 56996 GO:0070062, GO:0016021, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, GO:0015379, GO:0015377, potassium:chloride symporter activity, cation:chloride symporter activity, GO:1990573, GO:1902476, GO:0055075, GO:0055064, GO:0006884, potassium ion import across plasma membrane, chloride transmembrane transport, potassium ion homeostasis, chloride ion homeostasis, cell volume homeostasis, 2784 2767 3235 3867 4940 4684 4194 3660 4136 ENSG00000146830 chr7 100679507 100694037 - GIGYF1 protein_coding This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]. 64599 GO:0032991, protein-containing complex, GO:0005515, protein binding, GO:0048009, GO:0008150, insulin-like growth factor receptor signaling pathway, biological_process, 1200 1564 1507 1370 1924 1619 1375 1388 1356 ENSG00000146833 chr7 99876958 99919600 - TRIM4 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010]. 89122 GO:0005886, GO:0005829, GO:0005737, GO:0005737, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0061630, GO:0042802, GO:0008270, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, GO:0045087, GO:0016567, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, protein ubiquitination, regulation of gene expression, 83 91 144 125 96 130 164 83 70 ENSG00000146834 chr7 100428790 100434126 + MEPCE protein_coding 56257 GO:1990904, GO:0120259, GO:0005634, ribonucleoprotein complex, 7SK snRNP, nucleus, GO:1990276, GO:0097322, GO:0017069, GO:0008757, GO:0008173, GO:0008173, GO:0008173, GO:0008171, GO:0005515, GO:0003723, RNA 5'-methyltransferase activity, 7SK snRNA binding, snRNA binding, S-adenosylmethionine-dependent methyltransferase activity, RNA methyltransferase activity, RNA methyltransferase activity, RNA methyltransferase activity, O-methyltransferase activity, protein binding, RNA binding, GO:1905382, GO:1904871, GO:1900087, GO:0040031, GO:0040031, GO:0035562, GO:0016073, GO:0001510, GO:0000122, positive regulation of snRNA transcription by RNA polymerase II, positive regulation of protein localization to Cajal body, positive regulation of G1/S transition of mitotic cell cycle, snRNA modification, snRNA modification, negative regulation of chromatin binding, snRNA metabolic process, RNA methylation, negative regulation of transcription by RNA polymerase II, 1459 2215 1305 5334 7960 6663 4563 5022 5082 ENSG00000146839 chr7 100733626 100797797 + ZAN protein_coding This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 7455 GO:0031012, GO:0016021, GO:0005886, GO:0005615, extracellular matrix, integral component of membrane, plasma membrane, extracellular space, GO:0098609, GO:0007339, cell-cell adhesion, binding of sperm to zona pellucida, 0 0 0 1 0 3 0 0 1 ENSG00000146842 chr7 130164715 130207770 - TMEM209 protein_coding 84928 GO:0016021, integral component of membrane, 24 19 24 54 33 45 59 19 39 ENSG00000146856 chr7 134986508 135147963 + AGBL3 protein_coding 340351 GO:0005829, cytosol, GO:0008270, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, GO:0035610, GO:0006508, protein side chain deglutamylation, proteolysis, 1 2 11 10 6 2 4 3 1 ENSG00000146857 chr7 135231979 135258492 + STRA8 protein_coding This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010]. 346673 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0046983, GO:0005515, protein dimerization activity, protein binding, GO:0090427, GO:0071300, GO:0051321, GO:0048477, GO:0048133, GO:0045944, GO:0007283, GO:0006357, GO:0006260, activation of meiosis, cellular response to retinoic acid, meiotic cell cycle, oogenesis, male germ-line stem cell asymmetric division, positive regulation of transcription by RNA polymerase II, spermatogenesis, regulation of transcription by RNA polymerase II, DNA replication, 0 1 0 0 0 0 0 0 0 ENSG00000146858 chr7 139025706 139036029 - ZC3HAV1L protein_coding 92092 GO:0005829, cytosol, 0 5 6 1 0 13 4 2 0 ENSG00000146859 chr7 135148072 135166215 + TMEM140 protein_coding 55281 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1862 1972 2099 515 993 709 1090 1110 684 ENSG00000146872 chr17 62458658 62615481 + TLK2 protein_coding This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 11011 GO:0048471, GO:0005882, GO:0005634, GO:0005634, perinuclear region of cytoplasm, intermediate filament, nucleus, nucleus, GO:0106311, GO:0106310, GO:0042802, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, identical protein binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0071480, GO:0035556, GO:0035556, GO:0032435, GO:0018105, GO:0018105, GO:0010507, GO:0007059, GO:0007059, GO:0007049, GO:0006974, GO:0006468, GO:0006325, GO:0001672, GO:0001672, cellular response to gamma radiation, intracellular signal transduction, intracellular signal transduction, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, negative regulation of autophagy, chromosome segregation, chromosome segregation, cell cycle, cellular response to DNA damage stimulus, protein phosphorylation, chromatin organization, regulation of chromatin assembly or disassembly, regulation of chromatin assembly or disassembly, 721 724 835 445 653 569 481 528 470 ENSG00000146904 chr7 143390289 143408892 - EPHA1 protein_coding This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]. 2041 GO:0043235, GO:0043005, GO:0005887, GO:0005887, GO:0005886, GO:0005886, receptor complex, neuron projection, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0019901, GO:0005524, GO:0005005, GO:0005005, GO:0004714, GO:0004672, GO:0001968, protein kinase binding, ATP binding, transmembrane-ephrin receptor activity, transmembrane-ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, protein kinase activity, fibronectin binding, GO:0090630, GO:0051496, GO:0048013, GO:0046777, GO:0045766, GO:0045766, GO:0043087, GO:0035019, GO:0034446, GO:0033674, GO:0030336, GO:0030335, GO:0018108, GO:0008284, GO:0007411, GO:0007275, GO:0007169, GO:0007166, GO:0006469, GO:0001954, GO:0001525, activation of GTPase activity, positive regulation of stress fiber assembly, ephrin receptor signaling pathway, protein autophosphorylation, positive regulation of angiogenesis, positive regulation of angiogenesis, regulation of GTPase activity, somatic stem cell population maintenance, substrate adhesion-dependent cell spreading, positive regulation of kinase activity, negative regulation of cell migration, positive regulation of cell migration, peptidyl-tyrosine phosphorylation, positive regulation of cell population proliferation, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, negative regulation of protein kinase activity, positive regulation of cell-matrix adhesion, angiogenesis, 789 897 794 357 878 462 548 761 490 ENSG00000146909 chr7 156949723 156973182 + NOM1 protein_coding Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]. 64434 GO:0005730, GO:0005730, nucleolus, nucleolus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0048820, GO:0042274, GO:0008150, hair follicle maturation, ribosomal small subunit biogenesis, biological_process, 29 36 50 115 30 76 73 22 57 ENSG00000146910 chr7 155474206 155555450 - CNPY1 protein_coding Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008]. 285888 GO:0005783, endoplasmic reticulum, 0 0 0 0 0 0 0 0 0 ENSG00000146918 chr7 158631311 158704829 - NCAPG2 protein_coding This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 54892 GO:0016607, GO:0016020, GO:0005654, GO:0005654, GO:0005634, GO:0000796, nuclear speck, membrane, nucleoplasm, nucleoplasm, nucleus, condensin complex, GO:0035064, GO:0005515, methylated histone binding, protein binding, GO:0051301, GO:0030261, GO:0001833, GO:0000070, cell division, chromosome condensation, inner cell mass cell proliferation, mitotic sister chromatid segregation, 23 22 38 31 18 49 31 23 43 ENSG00000146926 chr7 151175698 151187832 - ASB10 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]. 136371 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0005515, protein binding, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000146938 chrX 5840637 6228863 - NLGN4X protein_coding This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 57502 GO:0098985, GO:0098983, GO:0098839, GO:0098793, GO:0089717, GO:0060076, GO:0045202, GO:0045202, GO:0030425, GO:0016021, GO:0009986, GO:0009986, GO:0005887, GO:0005887, GO:0005886, GO:0005886, asymmetric, glutamatergic, excitatory synapse, symmetric, GABA-ergic, inhibitory synapse, postsynaptic density membrane, presynapse, spanning component of membrane, excitatory synapse, synapse, synapse, dendrite, integral component of membrane, cell surface, cell surface, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0097110, GO:0050839, GO:0042803, GO:0042043, GO:0042043, GO:0042043, GO:0038023, GO:0031404, GO:0005515, scaffold protein binding, cell adhesion molecule binding, protein homodimerization activity, neurexin family protein binding, neurexin family protein binding, neurexin family protein binding, signaling receptor activity, chloride ion binding, protein binding, GO:0099054, GO:0097105, GO:0097105, GO:0097104, GO:0090394, GO:0071625, GO:0071625, GO:0050808, GO:0050808, GO:0050804, GO:0048488, GO:0045216, GO:0035265, GO:0035176, GO:0030534, GO:0030182, GO:0021549, GO:0007612, GO:0007268, GO:0007158, GO:0007158, GO:0003360, presynapse assembly, presynaptic membrane assembly, presynaptic membrane assembly, postsynaptic membrane assembly, negative regulation of excitatory postsynaptic potential, vocalization behavior, vocalization behavior, synapse organization, synapse organization, modulation of chemical synaptic transmission, synaptic vesicle endocytosis, cell-cell junction organization, organ growth, social behavior, adult behavior, neuron differentiation, cerebellum development, learning, chemical synaptic transmission, neuron cell-cell adhesion, neuron cell-cell adhesion, brainstem development, 0 0 0 1 0 0 0 0 0 ENSG00000146950 chrX 9786456 9949443 + SHROOM2 protein_coding This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]. 357 GO:0070062, GO:0043296, GO:0030864, GO:0030864, GO:0016324, GO:0016324, GO:0005923, GO:0005912, GO:0005912, GO:0005886, GO:0005874, GO:0005856, extracellular exosome, apical junction complex, cortical actin cytoskeleton, cortical actin cytoskeleton, apical plasma membrane, apical plasma membrane, bicellular tight junction, adherens junction, adherens junction, plasma membrane, microtubule, cytoskeleton, GO:0051015, GO:0051015, GO:0015280, GO:0008013, GO:0005515, GO:0003779, actin filament binding, actin filament binding, ligand-gated sodium channel activity, beta-catenin binding, protein binding, actin binding, GO:0051017, GO:0048593, GO:0045176, GO:0043583, GO:0043482, GO:0043010, GO:0035725, GO:0032438, GO:0032401, GO:0016477, GO:0008057, GO:0007420, GO:0007015, GO:0002089, GO:0000902, GO:0000902, actin filament bundle assembly, camera-type eye morphogenesis, apical protein localization, ear development, cellular pigment accumulation, camera-type eye development, sodium ion transmembrane transport, melanosome organization, establishment of melanosome localization, cell migration, eye pigment granule organization, brain development, actin filament organization, lens morphogenesis in camera-type eye, cell morphogenesis, cell morphogenesis, 0 2 5 1 1 9 1 0 0 ENSG00000146955 chr7 140404043 140426250 + RAB19 protein_coding 401409 GO:0070062, GO:0012505, GO:0005886, extracellular exosome, endomembrane system, plasma membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0006886, GO:0000045, intracellular protein transport, autophagosome assembly, 1 2 1 1 2 3 2 2 0 ENSG00000146963 chr7 139340359 139423457 + LUC7L2 protein_coding This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 51631 GO:0071004, GO:0016607, GO:0005685, U2-type prespliceosome, nuclear speck, U1 snRNP, GO:0019899, GO:0005515, GO:0003729, GO:0003723, enzyme binding, protein binding, mRNA binding, RNA binding, GO:0006376, mRNA splice site selection, 383 572 495 370 509 471 441 351 404 ENSG00000146966 chr7 140518420 140673993 - DENND2A protein_coding 27147 GO:0015629, GO:0015629, GO:0005829, actin cytoskeleton, actin cytoskeleton, cytosol, GO:0005085, GO:0005085, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0042147, GO:0042147, GO:0015031, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, protein transport, 1 1 6 2 4 7 1 0 1 ENSG00000147003 chrX 15627318 15675012 - CLTRN protein_coding This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]. 57393 GO:0070062, GO:0016021, GO:0005886, GO:0005886, GO:0005737, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:1905737, GO:0051957, GO:0045956, GO:0045956, GO:0035774, GO:0035774, GO:0035543, GO:0035543, GO:0022898, positive regulation of L-proline import across plasma membrane, positive regulation of amino acid transport, positive regulation of calcium ion-dependent exocytosis, positive regulation of calcium ion-dependent exocytosis, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of SNARE complex assembly, positive regulation of SNARE complex assembly, regulation of transmembrane transporter activity, 4 3 2 5 2 14 12 2 0 ENSG00000147010 chrX 19533975 19887601 - SH3KBP1 protein_coding This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]. 30011 GO:0045202, GO:0043005, GO:0030659, GO:0030139, GO:0005925, GO:0005911, GO:0005886, GO:0005856, GO:0005829, GO:0005737, synapse, neuron projection, cytoplasmic vesicle membrane, endocytic vesicle, focal adhesion, cell-cell junction, plasma membrane, cytoskeleton, cytosol, cytoplasm, GO:0017124, GO:0005515, SH3 domain binding, protein binding, GO:0061024, GO:0050871, GO:0042059, GO:0016477, GO:0008360, GO:0007411, GO:0007267, GO:0007015, GO:0007010, GO:0006915, GO:0006897, membrane organization, positive regulation of B cell activation, negative regulation of epidermal growth factor receptor signaling pathway, cell migration, regulation of cell shape, axon guidance, cell-cell signaling, actin filament organization, cytoskeleton organization, apoptotic process, endocytosis, 2671 2819 3332 1046 1778 1482 1205 1710 1476 ENSG00000147027 chrX 34627064 34657288 - TMEM47 protein_coding This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]. 83604 GO:0016021, GO:0005912, GO:0005911, GO:0005886, integral component of membrane, adherens junction, cell-cell junction, plasma membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0098609, GO:0008150, cell-cell adhesion, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000147036 chrX 37571569 37684463 + LANCL3 protein_coding 347404 GO:0005886, plasma membrane, GO:0005975, carbohydrate metabolic process, 0 0 1 4 4 0 2 0 0 ENSG00000147041 chrX 38006582 38128819 + SYTL5 protein_coding The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 94122 GO:0070382, GO:0005886, exocytic vesicle, plasma membrane, GO:0046872, GO:0042043, GO:0031267, GO:0005543, GO:0005515, metal ion binding, neurexin family protein binding, small GTPase binding, phospholipid binding, protein binding, GO:0006887, GO:0006886, exocytosis, intracellular protein transport, 0 0 1 0 0 0 0 0 0 ENSG00000147044 chrX 41514934 41923645 - CASK protein_coding This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 8573 GO:0098685, GO:0060170, GO:0042734, GO:0031982, GO:0016363, GO:0016323, GO:0015629, GO:0005925, GO:0005911, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005652, GO:0005604, GO:0005604, Schaffer collateral - CA1 synapse, ciliary membrane, presynaptic membrane, vesicle, nuclear matrix, basolateral plasma membrane, actin cytoskeleton, focal adhesion, cell-cell junction, plasma membrane, cytosol, cytoplasm, nucleolus, nuclear lamina, basement membrane, basement membrane, GO:0106311, GO:0106310, GO:0042043, GO:0005524, GO:0005516, GO:0005515, GO:0004674, GO:0004385, protein threonine kinase activity, protein serine kinase activity, neurexin family protein binding, ATP binding, calmodulin binding, protein binding, protein serine/threonine kinase activity, guanylate kinase activity, GO:2000300, GO:0090288, GO:0090280, GO:0070509, GO:0061045, GO:0046710, GO:0046037, GO:0045944, GO:0010839, GO:0010839, GO:0007269, GO:0007155, GO:0006468, GO:0001953, regulation of synaptic vesicle exocytosis, negative regulation of cellular response to growth factor stimulus, positive regulation of calcium ion import, calcium ion import, negative regulation of wound healing, GDP metabolic process, GMP metabolic process, positive regulation of transcription by RNA polymerase II, negative regulation of keratinocyte proliferation, negative regulation of keratinocyte proliferation, neurotransmitter secretion, cell adhesion, protein phosphorylation, negative regulation of cell-matrix adhesion, 70 45 95 103 42 124 90 19 89 ENSG00000147050 chrX 44873177 45112602 + KDM6A protein_coding This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]. 7403 GO:0044666, GO:0044666, GO:0035097, GO:0005654, GO:0005634, GO:0000785, MLL3/4 complex, MLL3/4 complex, histone methyltransferase complex, nucleoplasm, nucleus, chromatin, GO:0071558, GO:0051213, GO:0046872, GO:0042802, GO:0031490, GO:0005515, GO:0000978, histone demethylase activity (H3-K27 specific), dioxygenase activity, metal ion binding, identical protein binding, chromatin DNA binding, protein binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071557, GO:0060070, GO:0055114, GO:0051568, GO:0048570, GO:0048333, GO:0035264, GO:0032525, GO:0010628, GO:0006338, GO:0003016, GO:0003007, GO:0001843, GO:0001701, histone H3-K27 demethylation, canonical Wnt signaling pathway, oxidation-reduction process, histone H3-K4 methylation, notochord morphogenesis, mesodermal cell differentiation, multicellular organism growth, somite rostral/caudal axis specification, positive regulation of gene expression, chromatin remodeling, respiratory system process, heart morphogenesis, neural tube closure, in utero embryonic development, 1209 1284 1563 988 1392 1282 1324 1025 1035 ENSG00000147059 chrX 57134530 57137625 - SPIN2A protein_coding This gene encodes one of three members of the DXF34 gene family, located in a 100-kb region of chromosome Xp11.21. [provided by RefSeq, Nov 2009]. 54466 GO:0005829, GO:0005829, GO:0005654, GO:0005654, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0035064, GO:0035064, GO:0005515, methylated histone binding, methylated histone binding, protein binding, GO:0051726, GO:0007276, GO:0007049, GO:0006355, regulation of cell cycle, gamete generation, cell cycle, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000147065 chrX 65588377 65741931 + MSN protein_coding Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008]. 4478 GO:0072562, GO:0071944, GO:0071437, GO:0070062, GO:0048471, GO:0045177, GO:0031982, GO:0031528, GO:0031143, GO:0030175, GO:0016324, GO:0016323, GO:0009986, GO:0005925, GO:0005925, GO:0005902, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005615, GO:0001931, blood microparticle, cell periphery, invadopodium, extracellular exosome, perinuclear region of cytoplasm, apical part of cell, vesicle, microvillus membrane, pseudopodium, filopodium, apical plasma membrane, basolateral plasma membrane, cell surface, focal adhesion, focal adhesion, microvillus, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, nucleus, extracellular space, uropod, GO:0050839, GO:0019901, GO:0019899, GO:0005515, GO:0005200, GO:0005102, GO:0003779, GO:0003725, cell adhesion molecule binding, protein kinase binding, enzyme binding, protein binding, structural constituent of cytoskeleton, signaling receptor binding, actin binding, double-stranded RNA binding, GO:2000643, GO:2000401, GO:1903364, GO:1902966, GO:1902115, GO:0072678, GO:0071803, GO:0071394, GO:0070489, GO:0061028, GO:0050900, GO:0045198, GO:0042098, GO:0035722, GO:0022614, GO:0022612, GO:0016032, GO:0010628, GO:0008361, GO:0008361, GO:0008360, GO:0007159, GO:0007010, GO:0001771, positive regulation of early endosome to late endosome transport, regulation of lymphocyte migration, positive regulation of cellular protein catabolic process, positive regulation of protein localization to early endosome, regulation of organelle assembly, T cell migration, positive regulation of podosome assembly, cellular response to testosterone stimulus, T cell aggregation, establishment of endothelial barrier, leukocyte migration, establishment of epithelial cell apical/basal polarity, T cell proliferation, interleukin-12-mediated signaling pathway, membrane to membrane docking, gland morphogenesis, viral process, positive regulation of gene expression, regulation of cell size, regulation of cell size, regulation of cell shape, leukocyte cell-cell adhesion, cytoskeleton organization, immunological synapse formation, 17168 18657 23456 4708 8893 7730 6240 8638 7349 ENSG00000147081 chrX 50190768 50201013 - AKAP4 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 8852 GO:0097229, GO:0097228, GO:0097228, GO:0097225, GO:0097224, GO:0048471, GO:0035686, GO:0031514, GO:0030018, GO:0005952, GO:0005856, GO:0005737, GO:0005634, sperm end piece, sperm principal piece, sperm principal piece, sperm midpiece, sperm connecting piece, perinuclear region of cytoplasm, sperm fibrous sheath, motile cilium, Z disc, cAMP-dependent protein kinase complex, cytoskeleton, cytoplasm, nucleus, GO:0051018, GO:0051018, GO:0005515, protein kinase A binding, protein kinase A binding, protein binding, GO:0045184, GO:0044458, GO:0030317, GO:0008104, GO:0007338, GO:0007178, GO:0007165, establishment of protein localization, motile cilium assembly, flagellated sperm motility, protein localization, single fertilization, transmembrane receptor protein serine/threonine kinase signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000147082 chrX 50202713 50351910 + CCNB3 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 85417 GO:0016607, GO:0005813, GO:0005737, GO:0005634, GO:0000307, nuclear speck, centrosome, cytoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0019901, GO:0016538, GO:0005515, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0051321, GO:0051301, GO:0044772, GO:0010389, GO:0000079, meiotic cell cycle, cell division, mitotic cell cycle phase transition, regulation of G2/M transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 0 0 0 0 0 0 0 1 0 ENSG00000147099 chrX 72329516 72573199 - HDAC8 protein_coding Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 55869 GO:0005886, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000228, GO:0000118, GO:0000118, plasma membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nuclear chromosome, histone deacetylase complex, histone deacetylase complex, GO:0051879, GO:0046872, GO:0032041, GO:0030544, GO:0008134, GO:0005515, GO:0004407, GO:0004407, Hsp90 protein binding, metal ion binding, NAD-dependent histone deacetylase activity (H3-K14 specific), Hsp70 protein binding, transcription factor binding, protein binding, histone deacetylase activity, histone deacetylase activity, GO:0071922, GO:0070933, GO:0070932, GO:0045944, GO:0032204, GO:0031647, GO:0031397, GO:0007062, GO:0006333, GO:0006325, GO:0000122, regulation of cohesin loading, histone H4 deacetylation, histone H3 deacetylation, positive regulation of transcription by RNA polymerase II, regulation of telomere maintenance, regulation of protein stability, negative regulation of protein ubiquitination, sister chromatid cohesion, chromatin assembly or disassembly, chromatin organization, negative regulation of transcription by RNA polymerase II, 9 8 21 25 8 33 56 9 24 ENSG00000147100 chrX 74421461 74533917 + SLC16A2 protein_coding This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]. 6567 GO:0016324, GO:0016021, GO:0005887, GO:0005886, GO:0005886, apical plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015349, GO:0015349, GO:0015349, GO:0015293, GO:0015171, GO:0008028, GO:0005215, thyroid hormone transmembrane transporter activity, thyroid hormone transmembrane transporter activity, thyroid hormone transmembrane transporter activity, symporter activity, amino acid transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, transporter activity, GO:2000178, GO:0150104, GO:0150104, GO:0089718, GO:0070460, GO:0070327, GO:0070327, GO:0070327, GO:0043252, GO:0042403, GO:0015718, GO:0006590, GO:0006520, negative regulation of neural precursor cell proliferation, transport across blood-brain barrier, transport across blood-brain barrier, amino acid import across plasma membrane, thyroid-stimulating hormone secretion, thyroid hormone transport, thyroid hormone transport, thyroid hormone transport, sodium-independent organic anion transport, thyroid hormone metabolic process, monocarboxylic acid transport, thyroid hormone generation, cellular amino acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000147113 chrX 45148374 45200901 - CXorf36 protein_coding 79742 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000147117 chrX 47370583 47414305 + ZNF157 protein_coding This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. [provided by RefSeq, Jul 2008]. 7712 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 5 0 0 0 1 4 ENSG00000147118 chrX 47974851 48003978 - ZNF182 protein_coding Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2010]. 7569 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 148 128 167 133 135 113 151 112 110 ENSG00000147119 chrX 46573784 46598408 + CHST7 protein_coding This gene is a member of the Gal/GalNAc/GlcNAc (galactose/N-acetylgalactosamine/N-acetylglucosamine) 6-O-sulfotransferase (GST) family. Members of this family encode enzymes that catalyze the specific addition of sulfate groups to distinct hydroxyl and amino groups of carbohydrates. The encoded protein catalyzes the sulfation of 6-hydroxyl group of GalNAc in chondroitin. [provided by RefSeq, Aug 2013]. 56548 GO:0016021, GO:0016021, GO:0005802, GO:0000139, integral component of membrane, integral component of membrane, trans-Golgi network, Golgi membrane, GO:0008459, GO:0008459, GO:0001517, GO:0001517, chondroitin 6-sulfotransferase activity, chondroitin 6-sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, GO:0030206, GO:0030206, GO:0030206, GO:0006790, GO:0006790, GO:0006044, GO:0006044, GO:0005976, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, sulfur compound metabolic process, sulfur compound metabolic process, N-acetylglucosamine metabolic process, N-acetylglucosamine metabolic process, polysaccharide metabolic process, 484 343 338 73 159 80 126 161 72 ENSG00000147121 chrX 46446857 46497422 + KRBOX4 protein_coding This encodes a zinc finger protein with an N-terminal KRAB (Kruppel-associated) domain found in transcriptional repressors. This gene is located in a region of the X chromosome thought to be involved in nonsyndromic X-linked cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 55634 GO:0006355, regulation of transcription, DNA-templated, 59 63 55 54 48 55 75 74 54 ENSG00000147123 chrX 47142216 47145504 - NDUFB11 protein_coding The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]. 54539 GO:0016021, GO:0005747, GO:0005747, GO:0005743, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0032981, GO:0032981, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, 114 96 166 143 115 166 84 100 138 ENSG00000147124 chrX 47445879 47482946 - ZNF41 protein_coding This gene encodes a protein that contains KRAB-A and KRAB-B domains multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. An initial study suggested that this gene may be associated with X-linked cognitive disability, but a later study has called this finding into question (PMID:23871722).[provided by RefSeq, Apr 2016]. 7592 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 33 23 64 39 13 43 66 17 27 ENSG00000147127 chrX 70282093 70285002 + RAB41 protein_coding This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [provided by RefSeq, May 2010]. 347517 GO:0012505, GO:0005829, GO:0005794, GO:0000139, endomembrane system, cytosol, Golgi apparatus, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0042147, GO:0006891, GO:0006890, GO:0006886, retrograde transport, endosome to Golgi, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, 1 2 0 6 0 3 1 0 0 ENSG00000147130 chrX 71239624 71255146 - ZMYM3 protein_coding This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that function through modifying chromatin structure to keep genes silent. A chromosomal translocation (X;13) involving this gene is associated with X-linked cognitive disability. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2010]. 9203 GO:0005654, nucleoplasm, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:0022604, GO:0007275, GO:0007010, regulation of cell morphogenesis, multicellular organism development, cytoskeleton organization, 21 19 31 37 23 42 21 21 39 ENSG00000147133 chrX 71366239 71532374 + TAF1 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]. 6872 GO:0071339, GO:0005730, GO:0005669, GO:0005669, GO:0005669, GO:0005667, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, MLL1 complex, nucleolus, transcription factor TFIID complex, transcription factor TFIID complex, transcription factor TFIID complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1905502, GO:0140416, GO:0106311, GO:0106310, GO:0070577, GO:0061631, GO:0061629, GO:0061628, GO:0046982, GO:0043565, GO:0035257, GO:0017025, GO:0017025, GO:0016301, GO:0016251, GO:0016251, GO:0016251, GO:0008134, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004672, GO:0004402, GO:0004402, GO:0002039, GO:0001181, GO:0000979, acetyl-CoA binding, transcription regulator inhibitor activity, protein threonine kinase activity, protein serine kinase activity, lysine-acetylated histone binding, ubiquitin conjugating enzyme activity, RNA polymerase II-specific DNA-binding transcription factor binding, H3K27me3 modified histone binding, protein heterodimerization activity, sequence-specific DNA binding, nuclear hormone receptor binding, TBP-class protein binding, TBP-class protein binding, kinase activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, transcription factor binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, histone acetyltransferase activity, histone acetyltransferase activity, p53 binding, RNA polymerase I general transcription initiation factor activity, RNA polymerase II core promoter sequence-specific DNA binding, GO:2000825, GO:2000059, GO:1905524, GO:1903026, GO:1902806, GO:1901796, GO:0071318, GO:0051123, GO:0051123, GO:0050821, GO:0046777, GO:0046777, GO:0043433, GO:0036369, GO:0034644, GO:0032436, GO:0032092, GO:0030901, GO:0018107, GO:0018105, GO:0016573, GO:0016032, GO:0010629, GO:0007049, GO:0006974, GO:0006511, GO:0006468, GO:0006367, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006361, GO:0000209, GO:0000122, positive regulation of androgen receptor activity, negative regulation of ubiquitin-dependent protein catabolic process, negative regulation of protein autoubiquitination, negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding, regulation of cell cycle G1/S phase transition, regulation of signal transduction by p53 class mediator, cellular response to ATP, RNA polymerase II preinitiation complex assembly, RNA polymerase II preinitiation complex assembly, protein stabilization, protein autophosphorylation, protein autophosphorylation, negative regulation of DNA-binding transcription factor activity, transcription factor catabolic process, cellular response to UV, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, midbrain development, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, histone acetylation, viral process, negative regulation of gene expression, cell cycle, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, protein phosphorylation, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription initiation from RNA polymerase I promoter, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 847 798 976 528 697 639 600 499 532 ENSG00000147138 chrX 79144663 79175315 + GPR174 protein_coding This gene encodes a protein belonging to the G protein-coupled receptor superfamily. These proteins are characterized by the presence of seven alpha-helical transmembrane domains, and they activate or interact with various endogenous or exogenous ligands, including neurotransmitters, hormones, and odorant and taste substances. This family member is classified as an orphan receptor because the cognate ligand has not been identified. [provided by RefSeq, Sep 2011]. 84636 GO:0005887, integral component of plasma membrane, GO:0045125, GO:0004930, bioactive lipid receptor activity, G protein-coupled receptor activity, GO:0051482, GO:0043029, GO:0035025, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, T cell homeostasis, positive regulation of Rho protein signal transduction, 63 81 193 213 56 241 196 53 194 ENSG00000147140 chrX 71283192 71301168 + NONO protein_coding This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009]. 4841 GO:0090575, GO:0042382, GO:0016607, GO:0016363, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0001650, RNA polymerase II transcription regulator complex, paraspeckles, nuclear speck, nuclear matrix, membrane, nucleoplasm, nucleus, nucleus, nucleus, fibrillar center, GO:0070888, GO:0042802, GO:0005515, GO:0003723, GO:0003682, GO:0003676, GO:0000976, E-box binding, identical protein binding, protein binding, RNA binding, chromatin binding, nucleic acid binding, transcription regulatory region sequence-specific DNA binding, GO:1903377, GO:0045892, GO:0045087, GO:0042752, GO:0008380, GO:0007623, GO:0006397, GO:0006355, GO:0006310, GO:0006281, GO:0002218, GO:0000398, negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway, negative regulation of transcription, DNA-templated, innate immune response, regulation of circadian rhythm, RNA splicing, circadian rhythm, mRNA processing, regulation of transcription, DNA-templated, DNA recombination, DNA repair, activation of innate immune response, mRNA splicing, via spliceosome, 1041 980 1253 953 987 1264 1049 802 946 ENSG00000147144 chrX 49053572 49069857 + CCDC120 protein_coding This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012]. 90060 GO:0120103, GO:0030426, GO:0005814, GO:0005768, centriolar subdistal appendage, growth cone, centriole, endosome, GO:0005515, protein binding, GO:0034454, GO:0034454, GO:0008104, GO:0007275, microtubule anchoring at centrosome, microtubule anchoring at centrosome, protein localization, multicellular organism development, 15 33 42 46 51 61 55 36 55 ENSG00000147145 chrX 78747709 78757094 + LPAR4 protein_coding This gene encodes a member of the lysophosphatidic acid receptor family. It may also be related to the P2Y receptors, a family of receptors that bind purine and pyrimidine nucleotides and are coupled to G proteins. The encoded protein may play a role in monocytic differentiation. [provided by RefSeq, Feb 2009]. 2846 GO:0043231, GO:0016604, GO:0005887, GO:0005886, GO:0005886, intracellular membrane-bounded organelle, nuclear body, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0070915, GO:0035727, GO:0004930, lysophosphatidic acid receptor activity, lysophosphatidic acid binding, G protein-coupled receptor activity, GO:0051482, GO:0035025, GO:0007186, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of Rho protein signal transduction, G protein-coupled receptor signaling pathway, 0 1 0 0 0 0 0 0 0 ENSG00000147155 chrX 48521158 48528716 + EBP protein_coding The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]. 10682 GO:0031410, GO:0005887, GO:0005789, GO:0005783, GO:0005783, GO:0005635, cytoplasmic vesicle, integral component of plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nuclear envelope, GO:0047750, GO:0042910, GO:0042802, GO:0005515, GO:0004888, GO:0004769, GO:0004769, GO:0004769, GO:0000247, GO:0000247, cholestenol delta-isomerase activity, xenobiotic transmembrane transporter activity, identical protein binding, protein binding, transmembrane signaling receptor activity, steroid delta-isomerase activity, steroid delta-isomerase activity, steroid delta-isomerase activity, C-8 sterol isomerase activity, C-8 sterol isomerase activity, GO:0042908, GO:0033490, GO:0033489, GO:0016126, GO:0008203, GO:0006695, GO:0006695, GO:0001501, xenobiotic transport, cholesterol biosynthetic process via lathosterol, cholesterol biosynthetic process via desmosterol, sterol biosynthetic process, cholesterol metabolic process, cholesterol biosynthetic process, cholesterol biosynthetic process, skeletal system development, 29 40 85 54 41 41 36 22 66 ENSG00000147160 chrX 70040542 70049938 - AWAT2 protein_coding This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010]. 158835 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0102966, GO:0050252, GO:0050252, GO:0050252, GO:0047196, GO:0008374, GO:0003846, arachidoyl-CoA:1-dodecanol O-acyltransferase activity, retinol O-fatty-acyltransferase activity, retinol O-fatty-acyltransferase activity, retinol O-fatty-acyltransferase activity, long-chain-alcohol O-fatty-acyltransferase activity, O-acyltransferase activity, 2-acylglycerol O-acyltransferase activity, GO:0042572, GO:0036155, GO:0010025, GO:0006640, GO:0006629, GO:0001523, retinol metabolic process, acylglycerol acyl-chain remodeling, wax biosynthetic process, monoacylglycerol biosynthetic process, lipid metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000147162 chrX 71533083 71575897 + OGT protein_coding This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 8473 GO:0042995, GO:0032991, GO:0031966, GO:0017122, GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000123, cell projection, protein-containing complex, mitochondrial membrane, protein N-acetylglucosaminyltransferase complex, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, histone acetyltransferase complex, GO:0097363, GO:0097363, GO:0046972, GO:0043996, GO:0043995, GO:0016262, GO:0016262, GO:0016262, GO:0008375, GO:0005547, GO:0005515, protein O-GlcNAc transferase activity, protein O-GlcNAc transferase activity, histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), protein N-acetylglucosaminyltransferase activity, protein N-acetylglucosaminyltransferase activity, protein N-acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, GO:0120162, GO:0080182, GO:0061087, GO:0048015, GO:0046626, GO:0045944, GO:0045944, GO:0045862, GO:0043984, GO:0043982, GO:0043981, GO:0035020, GO:0032922, GO:0032868, GO:0032435, GO:0031397, GO:0031397, GO:0016579, GO:0016485, GO:0016032, GO:0007584, GO:0007165, GO:0006915, GO:0006493, GO:0006493, GO:0006493, GO:0006357, GO:0006111, GO:0006110, positive regulation of cold-induced thermogenesis, histone H3-K4 trimethylation, positive regulation of histone H3-K27 methylation, phosphatidylinositol-mediated signaling, regulation of insulin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of proteolysis, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, regulation of Rac protein signal transduction, circadian regulation of gene expression, response to insulin, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, negative regulation of protein ubiquitination, protein deubiquitination, protein processing, viral process, response to nutrient, signal transduction, apoptotic process, protein O-linked glycosylation, protein O-linked glycosylation, protein O-linked glycosylation, regulation of transcription by RNA polymerase II, regulation of gluconeogenesis, regulation of glycolytic process, 3042 3193 5421 3838 4170 6522 4229 2946 5340 ENSG00000147164 chrX 71056332 71073426 - SNX12 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. A similar protein in mouse may be involved in regulating the neurite outgrowth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 29934 GO:0031901, GO:0030904, GO:0005769, early endosome membrane, retromer complex, early endosome, GO:0035091, GO:0032266, GO:0019899, GO:0005515, phosphatidylinositol binding, phosphatidylinositol-3-phosphate binding, enzyme binding, protein binding, GO:2000642, GO:0051224, GO:0042177, GO:0034499, GO:0033157, GO:0032456, GO:0030100, GO:0015031, GO:0010955, GO:0010629, negative regulation of early endosome to late endosome transport, negative regulation of protein transport, negative regulation of protein catabolic process, late endosome to Golgi transport, regulation of intracellular protein transport, endocytic recycling, regulation of endocytosis, protein transport, negative regulation of protein processing, negative regulation of gene expression, 101 99 169 72 81 107 68 70 90 ENSG00000147166 chrX 71301734 71305371 + ITGB1BP2 protein_coding This gene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding motifs, and an acidic region at the C-terminus that can bind calcium. Two hybrid analysis showed that this protein interacts with the cytoplasmic domain of the beta 1 integrin subunit and is thought to act as a chaperone protein. Studies in the mouse ortholog of this gene indicate that absence of this gene in mouse results in failed cardiac hypertrophy in response to mechanical stress. Alternative splicing results in multiple transcript variants encoding different isoforms, including an isoform that lacks several domains, including one of the CHORD domains. [provided by RefSeq, May 2017]. 26548 GO:0030018, Z disc, GO:0017124, GO:0008270, GO:0005515, GO:0005509, GO:0005178, SH3 domain binding, zinc ion binding, protein binding, calcium ion binding, integrin binding, GO:0007517, GO:0007165, muscle organ development, signal transduction, 0 4 1 3 4 4 10 2 5 ENSG00000147168 chrX 71107404 71112108 - IL2RG protein_coding The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]. 3561 GO:0043235, GO:0016020, GO:0009986, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005829, GO:0005768, receptor complex, membrane, cell surface, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, cytosol, endosome, GO:0042010, GO:0019976, GO:0019955, GO:0005515, GO:0004917, GO:0004913, GO:0004911, GO:0004896, interleukin-15 receptor activity, interleukin-2 binding, cytokine binding, protein binding, interleukin-7 receptor activity, interleukin-4 receptor activity, interleukin-2 receptor activity, cytokine receptor activity, GO:0050766, GO:0038114, GO:0038113, GO:0038111, GO:0038110, GO:0035771, GO:0035723, GO:0035723, GO:0019221, GO:0019221, GO:0016032, GO:0007165, GO:0006955, GO:0000165, positive regulation of phagocytosis, interleukin-21-mediated signaling pathway, interleukin-9-mediated signaling pathway, interleukin-7-mediated signaling pathway, interleukin-2-mediated signaling pathway, interleukin-4-mediated signaling pathway, interleukin-15-mediated signaling pathway, interleukin-15-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, viral process, signal transduction, immune response, MAPK cascade, 864 808 1279 1244 1454 2067 1488 1229 1826 ENSG00000147174 chrX 71578411 71613583 + GCNA protein_coding 93953 GO:0005634, GO:0005634, nucleus, nucleus, 21 13 20 33 48 34 39 36 22 ENSG00000147180 chrX 85244032 85273362 + ZNF711 protein_coding This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with cognitive disability. [provided by RefSeq, Jul 2008]. 7552 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0043565, GO:0005515, metal ion binding, sequence-specific DNA binding, protein binding, GO:0051568, GO:0045893, GO:0010468, GO:0010452, histone H3-K4 methylation, positive regulation of transcription, DNA-templated, regulation of gene expression, histone H3-K36 methylation, 1 2 3 17 8 6 22 1 7 ENSG00000147183 chrX 88747225 88754785 + CPXCR1 protein_coding This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]. 53336 0 0 0 0 0 0 0 0 0 ENSG00000147202 chrX 96684663 97604997 + DIAPH2 protein_coding The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 1730 GO:0043231, GO:0005829, GO:0005783, GO:0005769, GO:0005730, intracellular membrane-bounded organelle, cytosol, endoplasmic reticulum, early endosome, nucleolus, GO:0031267, GO:0005102, GO:0003779, small GTPase binding, signaling receptor binding, actin binding, GO:0048477, GO:0007292, GO:0007275, GO:0007015, oogenesis, female gamete generation, multicellular organism development, actin filament organization, 54 60 77 56 54 76 61 33 71 ENSG00000147206 chrX 103075810 103093125 - NXF3 protein_coding This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq, Jul 2008]. 56000 GO:0042272, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear RNA export factor complex, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0016973, GO:0006406, poly(A)+ mRNA export from nucleus, mRNA export from nucleus, 0 0 0 0 3 1 0 0 0 ENSG00000147223 chrX 106900063 106903335 - RIPPLY1 protein_coding This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 92129 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, GO:0045892, GO:0032525, GO:0009880, GO:0009880, GO:0001757, GO:0000122, negative regulation of transcription, DNA-templated, somite rostral/caudal axis specification, embryonic pattern specification, embryonic pattern specification, somite specification, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000147224 chrX 107628424 107651026 + PRPS1 protein_coding This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 5631 GO:0005829, GO:0005737, GO:0002189, cytosol, cytoplasm, ribose phosphate diphosphokinase complex, GO:0042803, GO:0042802, GO:0016301, GO:0005524, GO:0005524, GO:0005515, GO:0004749, GO:0004749, GO:0004749, GO:0000287, protein homodimerization activity, identical protein binding, kinase activity, ATP binding, ATP binding, protein binding, ribose phosphate diphosphokinase activity, ribose phosphate diphosphokinase activity, ribose phosphate diphosphokinase activity, magnesium ion binding, GO:0046101, GO:0034418, GO:0016310, GO:0009156, GO:0009116, GO:0007399, GO:0006221, GO:0006164, GO:0006164, GO:0006144, GO:0006015, GO:0006015, GO:0006015, hypoxanthine biosynthetic process, urate biosynthetic process, phosphorylation, ribonucleoside monophosphate biosynthetic process, nucleoside metabolic process, nervous system development, pyrimidine nucleotide biosynthetic process, purine nucleotide biosynthetic process, purine nucleotide biosynthetic process, purine nucleobase metabolic process, 5-phosphoribose 1-diphosphate biosynthetic process, 5-phosphoribose 1-diphosphate biosynthetic process, 5-phosphoribose 1-diphosphate biosynthetic process, 53 91 96 102 83 126 96 43 99 ENSG00000147231 chrX 106611930 106679442 + CXorf57 protein_coding 55086 GO:0005657, GO:0005657, replication fork, replication fork, GO:0005515, GO:0003723, GO:0003697, GO:0003697, protein binding, RNA binding, single-stranded DNA binding, single-stranded DNA binding, GO:2000042, GO:0006282, negative regulation of double-strand break repair via homologous recombination, regulation of DNA repair, 17 6 32 41 0 42 28 5 16 ENSG00000147234 chrX 107522450 107605251 + FRMPD3 protein_coding This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton. [provided by RefSeq, May 2017]. 84443 GO:0070821, GO:0030667, GO:0005886, GO:0005856, tertiary granule membrane, secretory granule membrane, plasma membrane, cytoskeleton, GO:0043312, neutrophil degranulation, 4 4 14 14 3 19 14 0 25 ENSG00000147246 chrX 114584078 114910061 + HTR2C protein_coding This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015]. 3358 GO:0098666, GO:0045202, GO:0030425, GO:0005887, GO:0005887, GO:0005886, GO:0005886, G protein-coupled serotonin receptor complex, synapse, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0071886, GO:0051378, GO:0042802, GO:0030594, GO:0005515, GO:0004993, GO:0004993, GO:0001587, 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding, serotonin binding, identical protein binding, neurotransmitter receptor activity, protein binding, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, Gq/11-coupled serotonin receptor activity, GO:0098664, GO:0070374, GO:0051482, GO:0051209, GO:0051209, GO:0045600, GO:0043397, GO:0042493, GO:0032098, GO:0031644, GO:0019934, GO:0010513, GO:0007631, GO:0007626, GO:0007268, GO:0007208, GO:0007208, GO:0007200, GO:0007187, GO:0007186, GO:0006874, GO:0001662, G protein-coupled serotonin receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, positive regulation of fat cell differentiation, regulation of corticotropin-releasing hormone secretion, response to drug, regulation of appetite, regulation of nervous system process, cGMP-mediated signaling, positive regulation of phosphatidylinositol biosynthetic process, feeding behavior, locomotory behavior, chemical synaptic transmission, phospholipase C-activating serotonin receptor signaling pathway, phospholipase C-activating serotonin receptor signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cellular calcium ion homeostasis, behavioral fear response, 0 0 0 0 0 0 0 0 0 ENSG00000147251 chrX 118495898 118686163 + DOCK11 protein_coding 139818 GO:0005829, cytosol, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0051491, GO:0043547, GO:0007596, GO:0007264, GO:0002315, GO:0001782, positive regulation of filopodium assembly, positive regulation of GTPase activity, blood coagulation, small GTPase mediated signal transduction, marginal zone B cell differentiation, B cell homeostasis, 3369 3340 4011 1435 2331 2329 1845 1689 1892 ENSG00000147255 chrX 131273506 131578899 - IGSF1 protein_coding This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]. 3547 GO:0016021, GO:0016020, GO:0005576, integral component of membrane, membrane, extracellular region, GO:0038102, GO:0034711, GO:0015026, GO:0005515, activin receptor antagonist activity, inhibin binding, coreceptor activity, protein binding, GO:0032926, GO:0006355, negative regulation of activin receptor signaling pathway, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000147256 chrX 131058242 131089883 + ARHGAP36 protein_coding 158763 GO:0005829, cytosol, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000147257 chrX 133535745 133985895 - GPC3 protein_coding Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 2719 GO:0062023, GO:0046658, GO:0046658, GO:0043202, GO:0031226, GO:0009986, GO:0005886, GO:0005886, GO:0005796, GO:0005788, GO:0005576, collagen-containing extracellular matrix, anchored component of plasma membrane, anchored component of plasma membrane, lysosomal lumen, intrinsic component of plasma membrane, cell surface, plasma membrane, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular region, GO:0060422, GO:0005515, peptidyl-dipeptidase inhibitor activity, protein binding, GO:2000096, GO:2000050, GO:1905475, GO:0090263, GO:0090263, GO:0090090, GO:0072203, GO:0072180, GO:0072138, GO:0072111, GO:0060976, GO:0060828, GO:0050680, GO:0046326, GO:0045926, GO:0045880, GO:0045879, GO:0045807, GO:0045732, GO:0044267, GO:0043687, GO:0042074, GO:0035116, GO:0030513, GO:0030324, GO:0030316, GO:0030282, GO:0016477, GO:0010466, GO:0010171, GO:0009948, GO:0009653, GO:0009617, GO:0006027, GO:0006024, GO:0001658, GO:0001523, positive regulation of Wnt signaling pathway, planar cell polarity pathway, regulation of non-canonical Wnt signaling pathway, regulation of protein localization to membrane, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, cell proliferation involved in metanephros development, mesonephric duct morphogenesis, mesenchymal cell proliferation involved in ureteric bud development, cell proliferation involved in kidney development, coronary vasculature development, regulation of canonical Wnt signaling pathway, negative regulation of epithelial cell proliferation, positive regulation of glucose import, negative regulation of growth, positive regulation of smoothened signaling pathway, negative regulation of smoothened signaling pathway, positive regulation of endocytosis, positive regulation of protein catabolic process, cellular protein metabolic process, post-translational protein modification, cell migration involved in gastrulation, embryonic hindlimb morphogenesis, positive regulation of BMP signaling pathway, lung development, osteoclast differentiation, bone mineralization, cell migration, negative regulation of peptidase activity, body morphogenesis, anterior/posterior axis specification, anatomical structure morphogenesis, response to bacterium, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, branching involved in ureteric bud morphogenesis, retinoid metabolic process, 0 0 0 1 0 0 0 0 0 ENSG00000147262 chrX 130384440 130385447 - GPR119 protein_coding This gene encodes a member of the rhodopsin subfamily of G-protein-coupled receptors that is expressed in the pancreas and gastrointestinal tract. The encoded protein is activated by lipid amides including lysophosphatidylcholine and oleoylethanolamide and may be involved in glucose homeostasis. This protein is a potential drug target in the treatment of type 2 diabetes.[provided by RefSeq, Jan 2010]. 139760 GO:0043235, GO:0016021, GO:0005886, GO:0005737, receptor complex, integral component of membrane, plasma membrane, cytoplasm, GO:0031210, GO:0005515, GO:0004930, phosphatidylcholine binding, protein binding, G protein-coupled receptor activity, GO:0030073, GO:0019222, GO:0007189, insulin secretion, regulation of metabolic process, adenylate cyclase-activating G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000147274 chrX 136848004 136880764 - RBMX protein_coding This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]. 27316 GO:1990904, GO:0071013, GO:0070062, GO:0044530, GO:0032991, GO:0016020, GO:0005681, GO:0005654, GO:0005634, GO:0005615, GO:0000791, ribonucleoprotein complex, catalytic step 2 spliceosome, extracellular exosome, supraspliceosomal complex, protein-containing complex, membrane, spliceosomal complex, nucleoplasm, nucleus, extracellular space, euchromatin, GO:0042802, GO:0042802, GO:0019904, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003723, GO:0003682, GO:0000978, identical protein binding, identical protein binding, protein domain specific binding, protein binding, mRNA binding, RNA binding, RNA binding, RNA binding, chromatin binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071347, GO:0051260, GO:0048026, GO:0048026, GO:0048025, GO:0045944, GO:0016070, GO:0006509, GO:0006366, GO:0001649, GO:0000398, GO:0000398, GO:0000381, cellular response to interleukin-1, protein homooligomerization, positive regulation of mRNA splicing, via spliceosome, positive regulation of mRNA splicing, via spliceosome, negative regulation of mRNA splicing, via spliceosome, positive regulation of transcription by RNA polymerase II, RNA metabolic process, membrane protein ectodomain proteolysis, transcription by RNA polymerase II, osteoblast differentiation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 340 356 636 883 437 962 684 342 682 ENSG00000147316 chr8 6406592 6648504 + MCPH1 protein_coding This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. 79648 GO:0005815, GO:0005737, GO:0005654, microtubule organizing center, cytoplasm, nucleoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0097150, GO:0071850, GO:0071539, GO:0060623, GO:0060348, GO:0050727, GO:0046605, GO:0043549, GO:0021987, GO:0000278, GO:0000132, GO:0000122, neuronal stem cell population maintenance, mitotic cell cycle arrest, protein localization to centrosome, regulation of chromosome condensation, bone development, regulation of inflammatory response, regulation of centrosome cycle, regulation of kinase activity, cerebral cortex development, mitotic cell cycle, establishment of mitotic spindle orientation, negative regulation of transcription by RNA polymerase II, 37 70 57 95 66 108 88 73 91 ENSG00000147324 chr8 8783354 8893645 - MFHAS1 protein_coding Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]. 9258 GO:0005856, GO:0005764, GO:0005739, GO:0005737, cytoskeleton, lysosome, mitochondrion, cytoplasm, GO:0051721, GO:0031625, GO:0005525, GO:0005515, protein phosphatase 2A binding, ubiquitin protein ligase binding, GTP binding, protein binding, GO:1900745, GO:1900181, GO:0070374, GO:0051897, GO:0050728, GO:0046330, GO:0045087, GO:0043030, GO:0035308, GO:0034144, GO:0034137, GO:0034136, GO:0030218, GO:0006954, positive regulation of p38MAPK cascade, negative regulation of protein localization to nucleus, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, negative regulation of inflammatory response, positive regulation of JNK cascade, innate immune response, regulation of macrophage activation, negative regulation of protein dephosphorylation, negative regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 2 signaling pathway, negative regulation of toll-like receptor 2 signaling pathway, erythrocyte differentiation, inflammatory response, 37 12 38 63 31 75 44 28 57 ENSG00000147364 chr8 406428 477967 + FBXO25 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 26260 GO:0019005, GO:0005730, GO:0005634, GO:0005634, GO:0000151, SCF ubiquitin ligase complex, nucleolus, nucleus, nucleus, ubiquitin ligase complex, GO:0004842, GO:0003779, ubiquitin-protein transferase activity, actin binding, GO:0016567, GO:0016567, GO:0016567, protein ubiquitination, protein ubiquitination, protein ubiquitination, 16 13 24 40 24 63 56 19 43 ENSG00000147378 chrX 151716035 151723194 + FATE1 protein_coding This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation. [provided by RefSeq, Jan 2010]. 89885 GO:0044233, GO:0044233, GO:0016021, GO:0005789, GO:0005783, GO:0005783, GO:0005741, GO:0005741, mitochondria-associated endoplasmic reticulum membrane, mitochondria-associated endoplasmic reticulum membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, mitochondrial outer membrane, mitochondrial outer membrane, GO:0042802, GO:0031625, GO:0031625, GO:0005515, identical protein binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, GO:0051562, GO:0051562, GO:0043066, GO:0043066, GO:0006915, negative regulation of mitochondrial calcium ion concentration, negative regulation of mitochondrial calcium ion concentration, negative regulation of apoptotic process, negative regulation of apoptotic process, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000147381 chrX 151912509 151925170 + MAGEA4 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]. 4103 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000147383 chrX 152830967 152869729 + NSDHL protein_coding The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]. 50814 GO:0016021, GO:0005811, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0103067, GO:0103066, GO:0047012, GO:0016616, GO:0005515, GO:0003854, GO:0000252, 4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity, 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity, sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity, GO:0060716, GO:0055114, GO:0008203, GO:0007224, GO:0006695, GO:0001942, labyrinthine layer blood vessel development, oxidation-reduction process, cholesterol metabolic process, smoothened signaling pathway, cholesterol biosynthetic process, hair follicle development, 6 17 10 21 12 6 22 14 29 ENSG00000147394 chrX 152914442 152973480 + ZNF185 protein_coding Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a LIM-domain zinc finger protein. The LIM domain is composed of two contiguous zinc finger domains, separated by a two-amino acid residue hydrophobic linker. The LIM domain mediates protein:protein interactions. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]. 7739 GO:0015629, GO:0005925, GO:0005737, actin cytoskeleton, focal adhesion, cytoplasm, GO:0051015, GO:0008270, GO:0005515, actin filament binding, zinc ion binding, protein binding, 1143 1122 673 194 534 202 335 498 179 ENSG00000147400 chrX 152826973 152830777 - CETN2 protein_coding Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq, Jul 2008]. 1069 GO:0097729, GO:0071942, GO:0070390, GO:0045177, GO:0044615, GO:0036064, GO:0032391, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005813, GO:0005654, 9+2 motile cilium, XPC complex, transcription export complex 2, apical part of cell, nuclear pore nuclear basket, ciliary basal body, photoreceptor connecting cilium, cytosol, centriole, centriole, centrosome, centrosome, centrosome, nucleoplasm, GO:0032795, GO:0031683, GO:0008017, GO:0005515, GO:0005509, GO:0005509, heterotrimeric G-protein binding, G-protein beta/gamma-subunit complex binding, microtubule binding, protein binding, calcium ion binding, calcium ion binding, GO:0097711, GO:0070911, GO:0051301, GO:0051028, GO:0032465, GO:0015031, GO:0010389, GO:0007283, GO:0007099, GO:0007099, GO:0006294, GO:0006289, GO:0006289, GO:0000717, GO:0000715, GO:0000278, GO:0000278, GO:0000086, ciliary basal body-plasma membrane docking, global genome nucleotide-excision repair, cell division, mRNA transport, regulation of cytokinesis, protein transport, regulation of G2/M transition of mitotic cell cycle, spermatogenesis, centriole replication, centriole replication, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, nucleotide-excision repair, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, mitotic cell cycle, mitotic cell cycle, G2/M transition of mitotic cell cycle, 125 98 108 66 62 44 56 66 56 ENSG00000147403 chrX 154389955 154409168 + RPL10 protein_coding This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 6134 GO:0032991, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005829, GO:0005790, GO:0005783, GO:0005634, protein-containing complex, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, cytosol, smooth endoplasmic reticulum, endoplasmic reticulum, nucleus, GO:0045182, GO:0005515, GO:0003735, GO:0003735, GO:0003735, GO:0003735, GO:0003723, translation regulator activity, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:1990403, GO:0043066, GO:0019083, GO:0006614, GO:0006417, GO:0006413, GO:0006412, GO:0006412, GO:0000184, GO:0000122, GO:0000027, embryonic brain development, negative regulation of apoptotic process, viral transcription, SRP-dependent cotranslational protein targeting to membrane, regulation of translation, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, negative regulation of transcription by RNA polymerase II, ribosomal large subunit assembly, 1351 1152 2123 4138 2111 4587 2836 1834 3377 ENSG00000147408 chr8 19404161 19758029 - CSGALNACT1 protein_coding This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]. 55790 GO:0032580, GO:0030173, GO:0000139, Golgi cisterna membrane, integral component of Golgi membrane, Golgi membrane, GO:0047238, GO:0047238, GO:0047237, GO:0046872, GO:0015020, GO:0008955, GO:0008376, GO:0008376, GO:0008376, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, metal ion binding, glucuronosyltransferase activity, peptidoglycan glycosyltransferase activity, acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, GO:0051216, GO:0050653, GO:0050651, GO:0050650, GO:0046398, GO:0030210, GO:0030206, GO:0030206, GO:0030206, GO:0030198, GO:0030166, GO:0019276, GO:0015014, GO:0001958, cartilage development, chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, dermatan sulfate proteoglycan biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process, UDP-glucuronate metabolic process, heparin biosynthetic process, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, extracellular matrix organization, proteoglycan biosynthetic process, UDP-N-acetylgalactosamine metabolic process, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, endochondral ossification, 1272 1190 413 814 774 269 849 635 237 ENSG00000147416 chr8 20197367 20226819 + ATP6V1B2 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]. 526 GO:0070062, GO:0043231, GO:0042470, GO:0033180, GO:0016324, GO:0016021, GO:0012505, GO:0005902, GO:0005886, GO:0005829, GO:0005829, GO:0005765, GO:0001726, extracellular exosome, intracellular membrane-bounded organelle, melanosome, proton-transporting V-type ATPase, V1 domain, apical plasma membrane, integral component of membrane, endomembrane system, microvillus, plasma membrane, cytosol, cytosol, lysosomal membrane, ruffle, GO:0046961, GO:0016787, GO:0015078, GO:0005524, GO:0005515, proton-transporting ATPase activity, rotational mechanism, hydrolase activity, proton transmembrane transporter activity, ATP binding, protein binding, GO:1902600, GO:0090383, GO:0046034, GO:0034220, GO:0033572, GO:0016241, GO:0008286, proton transmembrane transport, phagosome acidification, ATP metabolic process, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, 14282 13292 23863 5990 7304 5860 8319 6751 5034 ENSG00000147419 chr8 27733311 27772653 - CCDC25 protein_coding 55246 GO:0005515, protein binding, 40 22 31 67 41 61 50 37 52 ENSG00000147421 chr8 28890394 29064764 + HMBOX1 protein_coding 79618 GO:0016605, GO:0016604, GO:0015030, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000781, GO:0000781, PML body, nuclear body, Cajal body, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromosome, telomeric region, chromosome, telomeric region, GO:1990837, GO:0044877, GO:0043565, GO:0042802, GO:0042162, GO:0042162, GO:0005515, GO:0003691, sequence-specific double-stranded DNA binding, protein-containing complex binding, sequence-specific DNA binding, identical protein binding, telomeric DNA binding, telomeric DNA binding, protein binding, double-stranded telomeric DNA binding, GO:0051973, GO:0051973, GO:0051972, GO:0045893, GO:0045892, GO:0035563, GO:0032212, GO:0032212, GO:0000122, positive regulation of telomerase activity, positive regulation of telomerase activity, regulation of telomerase activity, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of chromatin binding, positive regulation of telomere maintenance via telomerase, positive regulation of telomere maintenance via telomerase, negative regulation of transcription by RNA polymerase II, 263 308 373 241 344 229 244 245 210 ENSG00000147432 chr8 42697376 42737407 + CHRNB3 protein_coding The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]. 1142 GO:0045211, GO:0045202, GO:0043005, GO:0016021, GO:0005892, GO:0005887, GO:0005886, postsynaptic membrane, synapse, neuron projection, integral component of membrane, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, GO:0044877, GO:0042166, GO:0030594, GO:0022848, GO:0015464, GO:0015267, GO:0008144, protein-containing complex binding, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, channel activity, drug binding, GO:0060079, GO:0050877, GO:0042391, GO:0035094, GO:0034220, GO:0007271, GO:0007268, GO:0007165, excitatory postsynaptic potential, nervous system process, regulation of membrane potential, response to nicotine, ion transmembrane transport, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000147434 chr8 42752620 42796392 - CHRNA6 protein_coding This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]. 8973 GO:0099056, GO:0099055, GO:0045202, GO:0043005, GO:0005892, GO:0005887, GO:0005886, integral component of presynaptic membrane, integral component of postsynaptic membrane, synapse, neuron projection, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0022848, GO:0015464, GO:0005515, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, protein binding, GO:0060079, GO:0051899, GO:0050877, GO:0042391, GO:0034220, GO:0014059, GO:0007271, GO:0007268, GO:0007165, excitatory postsynaptic potential, membrane depolarization, nervous system process, regulation of membrane potential, ion transmembrane transport, regulation of dopamine secretion, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000147437 chr8 25419260 25424654 - GNRH1 protein_coding This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]. 2796 GO:1990008, GO:0098556, GO:0043679, GO:0043204, GO:0030425, GO:0005798, GO:0005739, GO:0005615, GO:0005576, neurosecretory vesicle, cytoplasmic side of rough endoplasmic reticulum membrane, axon terminus, perikaryon, dendrite, Golgi-associated vesicle, mitochondrion, extracellular space, extracellular region, GO:0031530, GO:0005183, GO:0005179, gonadotropin-releasing hormone receptor binding, gonadotropin hormone-releasing hormone activity, hormone activity, GO:2001223, GO:2000354, GO:1990637, GO:0045471, GO:0044849, GO:0043066, GO:0035864, GO:0034695, GO:0033574, GO:0033087, GO:0032496, GO:0031960, GO:0030238, GO:0010468, GO:0008285, GO:0007568, GO:0007565, GO:0007275, GO:0007267, GO:0007186, GO:0007165, GO:0000003, negative regulation of neuron migration, regulation of ovarian follicle development, response to prolactin, response to ethanol, estrous cycle, negative regulation of apoptotic process, response to potassium ion, response to prostaglandin E, response to testosterone, negative regulation of immature T cell proliferation, response to lipopolysaccharide, response to corticosteroid, male sex determination, regulation of gene expression, negative regulation of cell population proliferation, aging, female pregnancy, multicellular organism development, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, reproduction, 46 49 43 39 72 61 69 64 63 ENSG00000147439 chr8 22620418 22669148 - BIN3 protein_coding The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008]. 55909 GO:0005884, GO:0005737, actin filament, cytoplasm, GO:0008289, GO:0008093, GO:0008092, GO:0005515, lipid binding, cytoskeletal anchor activity, cytoskeletal protein binding, protein binding, GO:0097320, GO:0061640, GO:0051666, GO:0048741, GO:0014839, GO:0010591, GO:0009826, GO:0008104, GO:0007015, GO:0006897, GO:0000917, plasma membrane tubulation, cytoskeleton-dependent cytokinesis, actin cortical patch localization, skeletal muscle fiber development, myoblast migration involved in skeletal muscle regeneration, regulation of lamellipodium assembly, unidimensional cell growth, protein localization, actin filament organization, endocytosis, division septum assembly, 1929 1514 3159 549 732 670 612 675 578 ENSG00000147443 chr8 21908873 21913860 - DOK2 protein_coding The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008]. 9046 GO:0005829, cytosol, GO:0005515, GO:0005068, protein binding, transmembrane receptor protein tyrosine kinase adaptor activity, GO:0050900, GO:0016032, GO:0007411, GO:0007265, GO:0007169, GO:0007166, GO:0007165, leukocyte migration, viral process, axon guidance, Ras protein signal transduction, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, signal transduction, 158 139 422 223 113 367 135 75 189 ENSG00000147454 chr8 23528805 23575463 + SLC25A37 protein_coding SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]. 51312 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0005515, GO:0005381, protein binding, iron ion transmembrane transporter activity, GO:0055072, GO:0048250, iron ion homeostasis, iron import into the mitochondrion, 26541 21431 33354 25801 30540 38155 29036 21949 31230 ENSG00000147457 chr8 23243637 23262000 + CHMP7 protein_coding 91782 GO:0005829, GO:0005829, GO:0005771, GO:0005654, GO:0005635, GO:0000815, GO:0000815, GO:0000785, cytosol, cytosol, multivesicular body, nucleoplasm, nuclear envelope, ESCRT III complex, ESCRT III complex, chromatin, GO:0005515, protein binding, GO:1904903, GO:0071168, GO:0061952, GO:0045324, GO:0039702, GO:0036258, GO:0032511, GO:0031468, GO:0031468, GO:0019058, GO:0016197, GO:0015031, GO:0010458, GO:0007080, GO:0006997, GO:0006900, ESCRT III complex disassembly, protein localization to chromatin, midbody abscission, late endosome to vacuole transport, viral budding via host ESCRT complex, multivesicular body assembly, late endosome to vacuole transport via multivesicular body sorting pathway, nuclear envelope reassembly, nuclear envelope reassembly, viral life cycle, endosomal transport, protein transport, exit from mitosis, mitotic metaphase plate congression, nucleus organization, vesicle budding from membrane, 248 189 487 308 185 339 256 153 215 ENSG00000147459 chr8 25184723 25418082 + DOCK5 protein_coding This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]. 80005 GO:0005886, GO:0005829, GO:0005737, plasma membrane, cytosol, cytoplasm, GO:0005515, GO:0005096, GO:0005085, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:1904754, GO:1904694, GO:1900026, GO:0043547, GO:0016477, GO:0010634, GO:0007264, positive regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle contraction, positive regulation of substrate adhesion-dependent cell spreading, positive regulation of GTPase activity, cell migration, positive regulation of epithelial cell migration, small GTPase mediated signal transduction, 12562 13774 14587 9269 14557 11213 10509 9952 9188 ENSG00000147465 chr8 38143649 38151265 - STAR protein_coding The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]. 6770 GO:0043025, GO:0043005, GO:0030061, GO:0005829, GO:0005758, GO:0005758, neuronal cell body, neuron projection, mitochondrial crista, cytosol, mitochondrial intermembrane space, mitochondrial intermembrane space, GO:0120020, GO:0015485, GO:0015485, GO:0005515, cholesterol transfer activity, cholesterol binding, cholesterol binding, protein binding, GO:0120009, GO:0071872, GO:0071560, GO:0071549, GO:0071378, GO:0071373, GO:0071372, GO:0071346, GO:0071333, GO:0071320, GO:0071312, GO:0071276, GO:0071236, GO:0071222, GO:0070859, GO:0061370, GO:0060992, GO:0051412, GO:0050810, GO:0050769, GO:0048168, GO:0045471, GO:0044344, GO:0044321, GO:0043627, GO:0043524, GO:0042747, GO:0042542, GO:0042493, GO:0035457, GO:0035094, GO:0032869, GO:0032367, GO:0018963, GO:0018958, GO:0018894, GO:0018879, GO:0017143, GO:0016101, GO:0014823, GO:0010628, GO:0010288, GO:0010212, GO:0009635, GO:0008584, GO:0008211, GO:0008203, GO:0007584, GO:0007420, GO:0006703, GO:0006700, GO:0006699, GO:0006694, intermembrane lipid transfer, cellular response to epinephrine stimulus, cellular response to transforming growth factor beta stimulus, cellular response to dexamethasone stimulus, cellular response to growth hormone stimulus, cellular response to luteinizing hormone stimulus, cellular response to follicle-stimulating hormone stimulus, cellular response to interferon-gamma, cellular response to glucose stimulus, cellular response to cAMP, cellular response to alkaloid, cellular response to cadmium ion, cellular response to antibiotic, cellular response to lipopolysaccharide, positive regulation of bile acid biosynthetic process, testosterone biosynthetic process, response to fungicide, response to corticosterone, regulation of steroid biosynthetic process, positive regulation of neurogenesis, regulation of neuronal synaptic plasticity, response to ethanol, cellular response to fibroblast growth factor stimulus, response to leptin, response to estrogen, negative regulation of neuron apoptotic process, circadian sleep/wake cycle, REM sleep, response to hydrogen peroxide, response to drug, cellular response to interferon-alpha, response to nicotine, cellular response to insulin stimulus, intracellular cholesterol transport, phthalate metabolic process, phenol-containing compound metabolic process, dibenzo-p-dioxin metabolic process, biphenyl metabolic process, insecticide metabolic process, diterpenoid metabolic process, response to activity, positive regulation of gene expression, response to lead ion, response to ionizing radiation, response to herbicide, male gonad development, glucocorticoid metabolic process, cholesterol metabolic process, response to nutrient, brain development, estrogen biosynthetic process, C21-steroid hormone biosynthetic process, bile acid biosynthetic process, steroid biosynthetic process, 6 2 5 6 12 16 8 9 15 ENSG00000147471 chr8 37762593 37779767 + PLPBP protein_coding This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]. 11212 GO:0005829, GO:0005737, GO:0005622, cytosol, cytoplasm, intracellular anatomical structure, GO:0030170, pyridoxal phosphate binding, GO:0008150, biological_process, 281 250 269 273 248 235 301 246 277 ENSG00000147475 chr8 37736601 37759101 + ERLIN2 protein_coding This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 11160 GO:0045121, GO:0032991, GO:0016021, GO:0005886, GO:0005886, GO:0005829, GO:0005789, GO:0005789, GO:0005789, GO:0005783, membrane raft, protein-containing complex, integral component of membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0031625, GO:0015485, GO:0005515, ubiquitin protein ligase binding, cholesterol binding, protein binding, GO:0055085, GO:0045717, GO:0045541, GO:0032933, GO:0032933, GO:0030433, GO:0008203, transmembrane transport, negative regulation of fatty acid biosynthetic process, negative regulation of cholesterol biosynthetic process, SREBP signaling pathway, SREBP signaling pathway, ubiquitin-dependent ERAD pathway, cholesterol metabolic process, 359 414 414 442 554 656 495 388 348 ENSG00000147481 chr8 49909789 50796691 + SNTG1 protein_coding The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]. 54212 GO:0032587, GO:0016013, GO:0016010, GO:0005856, GO:0005737, GO:0005634, GO:0005622, ruffle membrane, syntrophin complex, dystrophin-associated glycoprotein complex, cytoskeleton, cytoplasm, nucleus, intracellular anatomical structure, GO:0008022, GO:0005515, GO:0005198, GO:0003779, protein C-terminus binding, protein binding, structural molecule activity, actin binding, GO:0007154, cell communication, 0 0 0 0 0 0 0 0 0 ENSG00000147485 chr8 51319578 51809445 - PXDNL protein_coding 137902 GO:0005737, GO:0005615, GO:0005615, cytoplasm, extracellular space, extracellular space, GO:0046872, GO:0020037, GO:0004601, GO:0004601, GO:0004519, metal ion binding, heme binding, peroxidase activity, peroxidase activity, endonuclease activity, GO:0098869, GO:0090305, GO:0055114, GO:0042744, GO:0006979, cellular oxidant detoxification, nucleic acid phosphodiester bond hydrolysis, oxidation-reduction process, hydrogen peroxide catabolic process, response to oxidative stress, 1 1 5 2 5 0 2 0 0 ENSG00000147488 chr8 52110839 52460959 - ST18 protein_coding 9705 GO:0032993, GO:0005634, GO:0005634, GO:0000785, protein-DNA complex, nucleus, nucleus, chromatin, GO:0008270, GO:0000981, GO:0000981, GO:0000978, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001269, GO:0070498, GO:0070102, GO:0045944, GO:0033209, GO:0008285, GO:0006357, positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, interleukin-1-mediated signaling pathway, interleukin-6-mediated signaling pathway, positive regulation of transcription by RNA polymerase II, tumor necrosis factor-mediated signaling pathway, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000147509 chr8 53851808 53959303 + RGS20 protein_coding The protein encoded by this gene belongs to the family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 8601 GO:0005886, GO:0005802, GO:0005737, GO:0005634, plasma membrane, trans-Golgi network, cytoplasm, nucleus, GO:0005515, GO:0005096, GO:0003924, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0009968, GO:0008277, GO:0007186, positive regulation of GTPase activity, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 1 1 0 ENSG00000147526 chr8 38728186 38853028 + TACC1 protein_coding This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]. 6867 GO:0030496, GO:0016020, GO:0005829, GO:0005815, GO:0005737, GO:0005634, midbody, membrane, cytosol, microtubule organizing center, cytoplasm, nucleus, GO:0046966, GO:0046965, GO:0042975, GO:0042974, GO:0035259, GO:0030331, GO:0016922, GO:0005515, thyroid hormone receptor binding, retinoid X receptor binding, peroxisome proliferator activated receptor binding, retinoic acid receptor binding, glucocorticoid receptor binding, estrogen receptor binding, nuclear receptor binding, protein binding, GO:0051301, GO:0021987, GO:0008283, GO:0007052, GO:0000226, cell division, cerebral cortex development, cell population proliferation, mitotic spindle organization, microtubule cytoskeleton organization, 3031 3725 4690 1810 3280 2870 2305 2424 2805 ENSG00000147533 chr8 41490396 41510980 + GOLGA7 protein_coding 51125 GO:1904724, GO:0070062, GO:0031228, GO:0005795, GO:0005795, GO:0005576, GO:0002178, GO:0002178, GO:0000139, tertiary granule lumen, extracellular exosome, intrinsic component of Golgi membrane, Golgi stack, Golgi stack, extracellular region, palmitoyltransferase complex, palmitoyltransferase complex, Golgi membrane, GO:0019706, GO:0005515, protein-cysteine S-palmitoyltransferase activity, protein binding, GO:0050821, GO:0043312, GO:0043001, GO:0043001, GO:0018230, GO:0018230, GO:0006893, GO:0006612, protein stabilization, neutrophil degranulation, Golgi to plasma membrane protein transport, Golgi to plasma membrane protein transport, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, Golgi to plasma membrane transport, protein targeting to membrane, 779 760 1146 292 557 411 391 557 433 ENSG00000147535 chr8 38263130 38269243 - PLPP5 protein_coding 84513 GO:0016021, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, cytoplasm, GO:0008195, GO:0008195, GO:0005515, GO:0000810, phosphatidate phosphatase activity, phosphatidate phosphatase activity, protein binding, diacylglycerol diphosphate phosphatase activity, GO:0046839, GO:0046839, GO:0006644, phospholipid dephosphorylation, phospholipid dephosphorylation, phospholipid metabolic process, 73 68 92 144 124 153 124 110 110 ENSG00000147536 chr8 41529206 41545046 + GINS4 protein_coding The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]. 84296 GO:0071162, GO:0005737, GO:0005654, GO:0000811, CMG complex, cytoplasm, nucleoplasm, GINS complex, GO:0005515, protein binding, GO:0032508, GO:0006271, GO:0001833, GO:0000727, DNA duplex unwinding, DNA strand elongation involved in DNA replication, inner cell mass cell proliferation, double-strand break repair via break-induced replication, 46 33 83 31 31 56 27 21 88 ENSG00000147548 chr8 38269697 38382272 - NSD3 protein_coding This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]. 54904 GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:0046975, GO:0046872, GO:0018024, GO:0005515, GO:0003713, histone methyltransferase activity (H3-K36 specific), metal ion binding, histone-lysine N-methyltransferase activity, protein binding, transcription coactivator activity, GO:2001255, GO:0045893, GO:0016571, GO:0010452, GO:0006355, positive regulation of histone H3-K36 trimethylation, positive regulation of transcription, DNA-templated, histone methylation, histone H3-K36 methylation, regulation of transcription, DNA-templated, 2252 2159 2507 1505 2089 2011 1734 1672 1771 ENSG00000147570 chr8 66021560 66100526 + DNAJC5B protein_coding This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]. 85479 GO:0016020, membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000147571 chr8 66176382 66178725 - CRH protein_coding This gene encodes a member of the corticotropin-releasing factor family. The encoded preproprotein is proteolytically processed to generate the mature neuropeptide hormone. In response to stress, this hormone is secreted by the paraventricular nucleus (PVN) of the hypothalamus, binds to corticotropin releasing hormone receptors and stimulates the release of adrenocorticotropic hormone from the pituitary gland. Marked reduction in this protein has been observed in association with Alzheimer's disease. Autosomal recessive hypothalamic corticotropin deficiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis. In addition to production in the hypothalamus, this protein is also synthesized in peripheral tissues, such as T lymphocytes, and is highly expressed in the placenta. In the placenta it is a marker that determines the length of gestation and the timing of parturition and delivery. A rapid increase in circulating levels of the hormone occurs at the onset of parturition, suggesting that, in addition to its metabolic functions, this protein may act as a trigger for parturition. [provided by RefSeq, Nov 2015]. 1392 GO:0045202, GO:0043204, GO:0043196, GO:0005737, GO:0005615, GO:0005615, GO:0005576, synapse, perikaryon, varicosity, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0051431, GO:0051430, GO:0017045, GO:0005515, GO:0005184, GO:0005179, GO:0005102, corticotropin-releasing hormone receptor 2 binding, corticotropin-releasing hormone receptor 1 binding, corticotropin-releasing hormone activity, protein binding, neuropeptide hormone activity, hormone activity, signaling receptor binding, GO:2000987, GO:2000854, GO:2000310, GO:0090280, GO:0071549, GO:0071314, GO:0070093, GO:0060548, GO:0060456, GO:0060291, GO:0051464, GO:0051464, GO:0051461, GO:0051412, GO:0050801, GO:0048265, GO:0045472, GO:0045471, GO:0043950, GO:0043627, GO:0042493, GO:0042322, GO:0035902, GO:0035774, GO:0035641, GO:0033685, GO:0032811, GO:0030325, GO:0030324, GO:0021854, GO:0016101, GO:0014062, GO:0010942, GO:0010841, GO:0010700, GO:0010629, GO:0010628, GO:0008628, GO:0008306, GO:0008284, GO:0007611, GO:0007567, GO:0007565, GO:0007268, GO:0007186, GO:0007165, GO:0006954, GO:0006704, GO:0003085, GO:0001963, GO:0001934, positive regulation of behavioral fear response, positive regulation of corticosterone secretion, regulation of NMDA receptor activity, positive regulation of calcium ion import, cellular response to dexamethasone stimulus, cellular response to cocaine, negative regulation of glucagon secretion, negative regulation of cell death, positive regulation of digestive system process, long-term synaptic potentiation, positive regulation of cortisol secretion, positive regulation of cortisol secretion, positive regulation of corticotropin secretion, response to corticosterone, ion homeostasis, response to pain, response to ether, response to ethanol, positive regulation of cAMP-mediated signaling, response to estrogen, response to drug, negative regulation of circadian sleep/wake cycle, REM sleep, response to immobilization stress, positive regulation of insulin secretion involved in cellular response to glucose stimulus, locomotory exploration behavior, negative regulation of luteinizing hormone secretion, negative regulation of epinephrine secretion, adrenal gland development, lung development, hypothalamus development, diterpenoid metabolic process, regulation of serotonin secretion, positive regulation of cell death, positive regulation of circadian sleep/wake cycle, wakefulness, negative regulation of norepinephrine secretion, negative regulation of gene expression, positive regulation of gene expression, hormone-mediated apoptotic signaling pathway, associative learning, positive regulation of cell population proliferation, learning or memory, parturition, female pregnancy, chemical synaptic transmission, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, glucocorticoid biosynthetic process, negative regulation of systemic arterial blood pressure, synaptic transmission, dopaminergic, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000147573 chr8 66126896 66175487 + TRIM55 protein_coding The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 84675 GO:0005874, GO:0005737, GO:0005634, microtubule, cytoplasm, nucleus, GO:0061630, GO:0042802, GO:0008270, GO:0005515, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, protein binding, GO:0050904, GO:0016567, GO:0007165, GO:0002523, diapedesis, protein ubiquitination, signal transduction, leukocyte migration involved in inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000147576 chr8 66432486 66468907 + ADHFE1 protein_coding The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]. 137872 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0047988, GO:0047988, GO:0046872, GO:0004022, hydroxyacid-oxoacid transhydrogenase activity, hydroxyacid-oxoacid transhydrogenase activity, metal ion binding, alcohol dehydrogenase (NAD+) activity, GO:0055114, GO:0006539, GO:0006103, oxidation-reduction process, glutamate catabolic process via 2-oxoglutarate, 2-oxoglutarate metabolic process, 1 0 5 15 2 1 12 1 10 ENSG00000147586 chr8 79918717 80030289 - MRPS28 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]. 28957 GO:0005763, GO:0005763, GO:0005743, GO:0005739, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003723, RNA binding, GO:0070126, GO:0070125, GO:0008150, mitochondrial translational termination, mitochondrial translational elongation, biological_process, 0 3 1 4 5 5 0 1 3 ENSG00000147588 chr8 81440326 81447523 - PMP2 protein_coding The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]. 5375 GO:0070062, GO:0043209, GO:0005737, extracellular exosome, myelin sheath, cytoplasm, GO:0015485, GO:0005515, GO:0005504, cholesterol binding, protein binding, fatty acid binding, GO:0061024, membrane organization, 0 0 0 0 0 0 0 0 0 ENSG00000147592 chr8 70635318 70669174 - LACTB2 protein_coding 51110 GO:0005759, GO:0005759, mitochondrial matrix, mitochondrial matrix, GO:0008270, GO:0005515, GO:0004521, GO:0004521, GO:0003727, GO:0003727, zinc ion binding, protein binding, endoribonuclease activity, endoribonuclease activity, single-stranded RNA binding, single-stranded RNA binding, GO:0090502, RNA phosphodiester bond hydrolysis, endonucleolytic, 3 8 13 24 10 17 16 4 9 ENSG00000147596 chr8 70051651 70071693 - PRDM14 protein_coding This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]. 63978 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0031490, GO:0008168, GO:0005515, GO:0003723, GO:0000977, metal ion binding, chromatin DNA binding, methyltransferase activity, protein binding, RNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1902459, GO:1902093, GO:0060817, GO:0048873, GO:0044030, GO:0040037, GO:0035019, GO:0034972, GO:0030718, GO:0010468, GO:0009566, GO:0007566, GO:0007281, GO:0006357, GO:0001827, GO:0001708, GO:0000902, GO:0000122, positive regulation of stem cell population maintenance, positive regulation of flagellated sperm motility, inactivation of paternal X chromosome, homeostasis of number of cells within a tissue, regulation of DNA methylation, negative regulation of fibroblast growth factor receptor signaling pathway, somatic stem cell population maintenance, histone H3-R26 methylation, germ-line stem cell population maintenance, regulation of gene expression, fertilization, embryo implantation, germ cell development, regulation of transcription by RNA polymerase II, inner cell mass cell fate commitment, cell fate specification, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 2 0 0 0 0 0 ENSG00000147601 chr8 73008864 73048122 + TERF1 protein_coding This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]. 7013 GO:0070187, GO:0070187, GO:0016604, GO:0005819, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000783, GO:0000783, GO:0000783, GO:0000781, GO:0000781, shelterin complex, shelterin complex, nuclear body, spindle, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, fibrillar center, nuclear telomere cap complex, nuclear telomere cap complex, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, GO:0098505, GO:0098505, GO:0071532, GO:0071532, GO:0042803, GO:0042802, GO:0042162, GO:0008301, GO:0008301, GO:0008017, GO:0005515, GO:0003720, GO:0003720, GO:0003691, GO:0003691, GO:0003677, G-rich strand telomeric DNA binding, G-rich strand telomeric DNA binding, ankyrin repeat binding, ankyrin repeat binding, protein homodimerization activity, identical protein binding, telomeric DNA binding, DNA binding, bending, DNA binding, bending, microtubule binding, protein binding, telomerase activity, telomerase activity, double-stranded telomeric DNA binding, double-stranded telomeric DNA binding, DNA binding, GO:1905839, GO:1905839, GO:1905778, GO:1905778, GO:1904914, GO:1904911, GO:1904850, GO:1904792, GO:1904357, GO:0090656, GO:0061820, GO:0051974, GO:0051301, GO:0045141, GO:0042493, GO:0032214, GO:0032211, GO:0032211, GO:0016233, GO:0008156, GO:0008156, GO:0007004, GO:0007004, GO:0000723, negative regulation of telomeric D-loop disassembly, negative regulation of telomeric D-loop disassembly, negative regulation of exonuclease activity, negative regulation of exonuclease activity, negative regulation of establishment of protein-containing complex localization to telomere, negative regulation of establishment of RNA localization to telomere, negative regulation of establishment of protein localization to telomere, positive regulation of shelterin complex assembly, negative regulation of telomere maintenance via telomere lengthening, t-circle formation, telomeric D-loop disassembly, negative regulation of telomerase activity, cell division, meiotic telomere clustering, response to drug, negative regulation of telomere maintenance via semi-conservative replication, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, telomere capping, negative regulation of DNA replication, negative regulation of DNA replication, telomere maintenance via telomerase, telomere maintenance via telomerase, telomere maintenance, 106 83 107 113 90 75 135 98 72 ENSG00000147604 chr8 73290267 73295789 - RPL7 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6129 GO:1990904, GO:0022625, GO:0022625, GO:0016020, GO:0014069, GO:0014069, GO:0005925, GO:0005844, GO:0005829, GO:0005737, GO:0005730, GO:0005634, ribonucleoprotein complex, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, postsynaptic density, postsynaptic density, focal adhesion, polysome, cytosol, cytoplasm, nucleolus, nucleus, GO:0042802, GO:0005515, GO:0003735, GO:0003735, GO:0003729, GO:0003723, GO:0003723, GO:0003677, identical protein binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, mRNA binding, RNA binding, RNA binding, DNA binding, GO:0042273, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0000463, GO:0000184, ribosomal large subunit biogenesis, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 914 712 1390 2326 1056 2843 1819 1110 1908 ENSG00000147606 chr8 91209494 91398152 + SLC26A7 protein_coding This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]. 115111 GO:0055038, GO:0016323, GO:0016323, GO:0005887, GO:0005886, GO:0005768, GO:0005737, recycling endosome membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, endosome, cytoplasm, GO:0019531, GO:0019531, GO:0015301, GO:0015116, GO:0015116, GO:0015108, GO:0015106, GO:0015106, GO:0008271, GO:0005254, oxalate transmembrane transporter activity, oxalate transmembrane transporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, chloride channel activity, GO:1902476, GO:1902358, GO:0019532, GO:0015701, GO:0008272, GO:0006821, GO:0006820, GO:0006811, GO:0001696, chloride transmembrane transport, sulfate transmembrane transport, oxalate transport, bicarbonate transport, sulfate transport, chloride transport, anion transport, ion transport, gastric acid secretion, 1 0 0 0 0 0 0 0 0 ENSG00000147613 chr8 86048373 86088621 - PSKH2 protein_coding 85481 GO:0106311, GO:0106310, GO:0005524, GO:0005515, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, GO:0006468, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000147614 chr8 85987323 86154228 + ATP6V0D2 protein_coding 245972 GO:0070062, GO:0033181, GO:0033179, GO:0030670, GO:0016471, GO:0016471, GO:0016324, GO:0016020, GO:0010008, GO:0005769, GO:0005765, extracellular exosome, plasma membrane proton-transporting V-type ATPase complex, proton-transporting V-type ATPase, V0 domain, phagocytic vesicle membrane, vacuolar proton-transporting V-type ATPase complex, vacuolar proton-transporting V-type ATPase complex, apical plasma membrane, membrane, endosome membrane, early endosome, lysosomal membrane, GO:0046961, GO:0005515, proton-transporting ATPase activity, rotational mechanism, protein binding, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0016241, GO:0008286, GO:0007035, GO:0007034, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, vacuolar acidification, vacuolar transport, 0 0 0 0 0 0 1 0 0 ENSG00000147642 chr8 109573978 109691791 - SYBU protein_coding Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]. 55638 GO:1904115, GO:0097433, GO:0043231, GO:0031982, GO:0031410, GO:0016021, GO:0005881, GO:0005874, GO:0000139, axon cytoplasm, dense body, intracellular membrane-bounded organelle, vesicle, cytoplasmic vesicle, integral component of membrane, cytoplasmic microtubule, microtubule, Golgi membrane, GO:0019894, GO:0017075, GO:0008017, GO:0005515, kinesin binding, syntaxin-1 binding, microtubule binding, protein binding, GO:1990048, GO:0060074, GO:0060025, GO:0035774, GO:0019896, anterograde neuronal dense core vesicle transport, synapse maturation, regulation of synaptic activity, positive regulation of insulin secretion involved in cellular response to glucose stimulus, axonal transport of mitochondrion, 0 1 0 6 2 0 0 1 0 ENSG00000147647 chr8 104330324 104467053 - DPYS protein_coding Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]. 1807 GO:0070062, GO:0032991, GO:0005829, GO:0005829, extracellular exosome, protein-containing complex, cytosol, cytosol, GO:0051219, GO:0042802, GO:0016597, GO:0008270, GO:0005515, GO:0004157, GO:0004157, GO:0004157, GO:0002059, GO:0002058, phosphoprotein binding, identical protein binding, amino acid binding, zinc ion binding, protein binding, dihydropyrimidinase activity, dihydropyrimidinase activity, dihydropyrimidinase activity, thymine binding, uracil binding, GO:0046135, GO:0019482, GO:0006212, GO:0006212, GO:0006210, GO:0006208, GO:0006208, pyrimidine nucleoside catabolic process, beta-alanine metabolic process, uracil catabolic process, uracil catabolic process, thymine catabolic process, pyrimidine nucleobase catabolic process, pyrimidine nucleobase catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000147649 chr8 97644179 97728770 + MTDH protein_coding 92140 GO:0048471, GO:0046581, GO:0031965, GO:0016604, GO:0016324, GO:0016021, GO:0005923, GO:0005789, GO:0005789, GO:0005783, GO:0005737, GO:0005634, GO:0005634, GO:0001650, perinuclear region of cytoplasm, intercellular canaliculus, nuclear membrane, nuclear body, apical plasma membrane, integral component of membrane, bicellular tight junction, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleus, nucleus, fibrillar center, GO:0051059, GO:0051059, GO:0005515, GO:0003725, GO:0003723, GO:0003713, GO:0003712, GO:0001085, GO:0001085, NF-kappaB binding, NF-kappaB binding, protein binding, double-stranded RNA binding, RNA binding, transcription coactivator activity, transcription coregulator activity, RNA polymerase II transcription factor binding, RNA polymerase II transcription factor binding, GO:1903508, GO:0051897, GO:0051092, GO:0045766, GO:0043123, GO:0043066, GO:0031663, GO:0010508, GO:0006357, GO:0000122, positive regulation of nucleic acid-templated transcription, positive regulation of protein kinase B signaling, positive regulation of NF-kappaB transcription factor activity, positive regulation of angiogenesis, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, lipopolysaccharide-mediated signaling pathway, positive regulation of autophagy, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 326 358 469 248 200 330 288 206 281 ENSG00000147650 chr8 104489231 104589024 - LRP12 protein_coding This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. 29967 GO:0016021, GO:0005905, GO:0005887, integral component of membrane, clathrin-coated pit, integral component of plasma membrane, GO:0005515, GO:0005041, protein binding, low-density lipoprotein particle receptor activity, GO:0040008, GO:0031175, GO:0007165, GO:0006897, GO:0001764, regulation of growth, neuron projection development, signal transduction, endocytosis, neuron migration, 3 4 7 2 2 3 4 0 3 ENSG00000147654 chr8 109539711 109565996 + EBAG9 protein_coding This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013]. 9166 GO:0030141, GO:0016021, GO:0000139, secretory granule, integral component of membrane, Golgi membrane, GO:0016505, GO:0005515, peptidase activator activity involved in apoptotic process, protein binding, GO:0006915, GO:0001558, apoptotic process, regulation of cell growth, 28 23 54 34 29 49 26 22 34 ENSG00000147655 chr8 107899316 108083648 - RSPO2 protein_coding This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 340419 GO:0009986, GO:0005576, GO:0005576, cell surface, extracellular region, extracellular region, GO:0008201, GO:0005515, GO:0005102, heparin binding, protein binding, signaling receptor binding, GO:0090263, GO:0071542, GO:0060535, GO:0060441, GO:0060437, GO:0060173, GO:0042489, GO:0035116, GO:0035115, GO:0030282, GO:0030177, GO:0030177, GO:0016055, GO:0001649, positive regulation of canonical Wnt signaling pathway, dopaminergic neuron differentiation, trachea cartilage morphogenesis, epithelial tube branching involved in lung morphogenesis, lung growth, limb development, negative regulation of odontogenesis of dentin-containing tooth, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, bone mineralization, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, Wnt signaling pathway, osteoblast differentiation, 1 0 0 0 0 0 0 0 0 ENSG00000147669 chr8 100150584 100154002 + POLR2K protein_coding This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]. 5440 GO:0005829, GO:0005736, GO:0005666, GO:0005665, GO:0005665, GO:0005654, GO:0005634, cytosol, RNA polymerase I complex, RNA polymerase III complex, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003899, GO:0003677, zinc ion binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0060964, GO:0050434, GO:0045815, GO:0042795, GO:0035019, GO:0032481, GO:0016070, GO:0008543, GO:0006383, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006356, GO:0006351, GO:0006283, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, positive regulation of gene expression, epigenetic, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, positive regulation of type I interferon production, RNA metabolic process, fibroblast growth factor receptor signaling pathway, transcription by RNA polymerase III, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, regulation of transcription by RNA polymerase I, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, 81 62 100 106 64 96 56 79 106 ENSG00000147676 chr8 119165034 119245673 + MAL2 protein_coding This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]. 114569 GO:0070062, GO:0048471, GO:0045121, GO:0016324, GO:0016021, GO:0012505, extracellular exosome, perinuclear region of cytoplasm, membrane raft, apical plasma membrane, integral component of membrane, endomembrane system, GO:0019911, GO:0005515, structural constituent of myelin sheath, protein binding, GO:0045056, GO:0042552, transcytosis, myelination, 0 0 1 1 0 0 2 1 0 ENSG00000147677 chr8 116642130 116766925 - EIF3H protein_coding 8667 GO:0071541, GO:0070062, GO:0042788, GO:0033290, GO:0016282, GO:0016020, GO:0005852, GO:0005852, GO:0005829, GO:0005829, eukaryotic translation initiation factor 3 complex, eIF3m, extracellular exosome, polysomal ribosome, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, membrane, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, cytosol, GO:0101005, GO:0070122, GO:0008237, GO:0008237, GO:0005515, GO:0003743, GO:0003743, GO:0003743, GO:0003723, ubiquitinyl hydrolase activity, isopeptidase activity, metallopeptidase activity, metallopeptidase activity, protein binding, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, RNA binding, GO:0032435, GO:0006508, GO:0006446, GO:0006413, GO:0006413, GO:0006413, GO:0001732, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, proteolysis, regulation of translational initiation, translational initiation, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, 439 423 625 569 445 805 564 458 529 ENSG00000147679 chr8 116766503 116849463 + UTP23 protein_coding 84294 GO:0032040, GO:0005730, small-subunit processome, nucleolus, GO:0070181, GO:0048027, GO:0005515, GO:0003730, GO:0003723, small ribosomal subunit rRNA binding, mRNA 5'-UTR binding, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0000480, endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 381 345 488 211 211 228 196 207 195 ENSG00000147684 chr8 124539101 124580648 + NDUFB9 protein_coding The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 4715 GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0032981, GO:0032981, GO:0007605, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, sensory perception of sound, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 109 96 120 147 116 211 131 89 103 ENSG00000147687 chr8 124488485 124539458 - TATDN1 protein_coding 83940 GO:0005654, nucleoplasm, GO:0046872, GO:0016888, GO:0008296, GO:0005515, metal ion binding, endodeoxyribonuclease activity, producing 5'-phosphomonoesters, 3'-5'-exodeoxyribonuclease activity, protein binding, GO:0090305, GO:0006259, nucleic acid phosphodiester bond hydrolysis, DNA metabolic process, 64 57 63 103 51 140 95 45 60 ENSG00000147689 chr8 123178960 123210079 + FAM83A protein_coding 84985 GO:0005737, cytoplasm, GO:0042802, GO:0036312, GO:0019901, GO:0019901, GO:0019901, GO:0005515, identical protein binding, phosphatidylinositol 3-kinase regulatory subunit binding, protein kinase binding, protein kinase binding, protein kinase binding, protein binding, GO:0008283, GO:0007173, GO:0007173, GO:0007165, cell population proliferation, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, 0 2 0 0 0 0 0 1 0 ENSG00000147697 chr8 129748196 129786888 - GSDMC protein_coding 56169 GO:0034451, GO:0005886, GO:0005829, GO:0005739, GO:0005737, centriolar satellite, plasma membrane, cytosol, mitochondrion, cytoplasm, GO:0070273, GO:0005546, GO:0003674, GO:0001786, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, molecular_function, phosphatidylserine binding, GO:0070269, GO:0042742, GO:0008150, pyroptosis, defense response to bacterium, biological_process, 6 5 5 3 3 22 6 1 4 ENSG00000147724 chr8 138130023 138496822 - FAM135B protein_coding 51059 GO:0044255, cellular lipid metabolic process, 0 0 0 0 0 0 0 0 3 ENSG00000147753 chrY 6449468 6457906 + TTTY7 lincRNA 246122 0 0 0 0 0 0 0 0 0 ENSG00000147761 chrY 9706824 9715262 - TTTY7B lincRNA 100101120 0 0 0 0 0 0 0 0 0 ENSG00000147789 chr8 144827464 144847509 + ZNF7 protein_coding 7553 GO:0005634, nucleus, GO:0046872, GO:0003677, GO:0000981, GO:0000978, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007275, GO:0006357, multicellular organism development, regulation of transcription by RNA polymerase II, 87 122 144 461 569 868 283 309 406 ENSG00000147799 chr8 144529179 144605816 - ARHGAP39 protein_coding 80728 GO:0098978, GO:0098978, GO:0005856, GO:0005829, GO:0005737, GO:0005634, glutamatergic synapse, glutamatergic synapse, cytoskeleton, cytosol, cytoplasm, nucleus, GO:0005096, GTPase activator activity, GO:0099173, GO:0099173, GO:0051056, GO:0043547, GO:0007165, postsynapse organization, postsynapse organization, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 1 0 1 0 0 6 0 2 1 ENSG00000147804 chr8 144409742 144416895 - SLC39A4 protein_coding This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]. 55630 GO:0055038, GO:0031410, GO:0016324, GO:0005887, GO:0005886, GO:0005886, recycling endosome membrane, cytoplasmic vesicle, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005385, GO:0005385, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0071578, GO:0034224, GO:0006882, zinc ion import across plasma membrane, cellular response to zinc ion starvation, cellular zinc ion homeostasis, 6 11 14 6 8 18 13 10 21 ENSG00000147813 chr8 143574785 143578649 - NAPRT protein_coding Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]. 93100 GO:0070062, GO:0035578, GO:0005829, GO:0005829, GO:0005829, GO:0005576, extracellular exosome, azurophil granule lumen, cytosol, cytosol, cytosol, extracellular region, GO:0046872, GO:0005515, GO:0004516, GO:0004516, GO:0004514, metal ion binding, protein binding, nicotinate phosphoribosyltransferase activity, nicotinate phosphoribosyltransferase activity, nicotinate-nucleotide diphosphorylase (carboxylating) activity, GO:0043312, GO:0034356, GO:0034355, GO:0006979, neutrophil degranulation, NAD biosynthesis via nicotinamide riboside salvage pathway, NAD salvage, response to oxidative stress, 55 15 126 49 55 75 57 8 71 ENSG00000147852 chr9 2621834 2660053 + VLDLR protein_coding The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]. 7436 GO:0043235, GO:0034361, GO:0016021, GO:0016020, GO:0005905, GO:0005886, GO:0005765, receptor complex, very-low-density lipoprotein particle, integral component of membrane, membrane, clathrin-coated pit, plasma membrane, lysosomal membrane, GO:0048306, GO:0038025, GO:0038024, GO:0034189, GO:0034185, GO:0034185, GO:0030229, GO:0030229, GO:0005515, GO:0005509, GO:0005041, calcium-dependent protein binding, reelin receptor activity, cargo receptor activity, very-low-density lipoprotein particle binding, apolipoprotein binding, apolipoprotein binding, very-low-density lipoprotein particle receptor activity, very-low-density lipoprotein particle receptor activity, protein binding, calcium ion binding, low-density lipoprotein particle receptor activity, GO:1900006, GO:0048813, GO:0045860, GO:0038026, GO:0034447, GO:0034447, GO:0034436, GO:0032802, GO:0021517, GO:0008203, GO:0007613, GO:0007411, GO:0007399, GO:0007165, GO:0006898, GO:0006869, positive regulation of dendrite development, dendrite morphogenesis, positive regulation of protein kinase activity, reelin-mediated signaling pathway, very-low-density lipoprotein particle clearance, very-low-density lipoprotein particle clearance, glycoprotein transport, low-density lipoprotein particle receptor catabolic process, ventral spinal cord development, cholesterol metabolic process, memory, axon guidance, nervous system development, signal transduction, receptor-mediated endocytosis, lipid transport, 7 13 47 4 1 10 1 3 3 ENSG00000147853 chr9 4709559 4742043 - AK3 protein_coding The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. 50808 GO:0005759, GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0046899, GO:0046899, GO:0046899, GO:0005525, GO:0005524, GO:0005515, GO:0004017, nucleoside triphosphate adenylate kinase activity, nucleoside triphosphate adenylate kinase activity, nucleoside triphosphate adenylate kinase activity, GTP binding, ATP binding, protein binding, adenylate kinase activity, GO:0046940, GO:0046051, GO:0046041, GO:0046039, GO:0046033, GO:0046033, GO:0016310, GO:0009142, GO:0007596, GO:0006172, GO:0006163, nucleoside monophosphate phosphorylation, UTP metabolic process, ITP metabolic process, GTP metabolic process, AMP metabolic process, AMP metabolic process, phosphorylation, nucleoside triphosphate biosynthetic process, blood coagulation, ADP biosynthetic process, purine nucleotide metabolic process, 42 58 88 79 50 80 53 35 53 ENSG00000147854 chr9 6413151 6507054 + UHRF2 protein_coding This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]. 115426 GO:0005721, GO:0005654, GO:0005654, GO:0005634, GO:0000792, GO:0000792, pericentric heterochromatin, nucleoplasm, nucleoplasm, nucleus, heterochromatin, heterochromatin, GO:0061630, GO:0061630, GO:0046872, GO:0042393, GO:0008134, GO:0005515, GO:0004842, GO:0003677, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, histone binding, transcription factor binding, protein binding, ubiquitin-protein transferase activity, DNA binding, GO:0071158, GO:0051865, GO:0051726, GO:0030154, GO:0016567, GO:0016567, GO:0010216, GO:0007049, positive regulation of cell cycle arrest, protein autoubiquitination, regulation of cell cycle, cell differentiation, protein ubiquitination, protein ubiquitination, maintenance of DNA methylation, cell cycle, 348 384 388 595 541 617 527 392 420 ENSG00000147862 chr9 14081843 14398983 - NFIB protein_coding 4781 GO:0044300, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000785, cerebellar mossy fiber, nucleoplasm, nucleus, nucleus, fibrillar center, chromatin, GO:1990837, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000795, GO:2000791, GO:1902894, GO:0071679, GO:0061141, GO:0060689, GO:0060662, GO:0060510, GO:0060509, GO:0060486, GO:0045944, GO:0045893, GO:0030902, GO:0021960, GO:0021740, GO:0010001, GO:0009617, GO:0007420, GO:0006357, GO:0006260, GO:0002062, negative regulation of epithelial cell proliferation involved in lung morphogenesis, negative regulation of mesenchymal cell proliferation involved in lung development, negative regulation of pri-miRNA transcription by RNA polymerase II, commissural neuron axon guidance, lung ciliated cell differentiation, cell differentiation involved in salivary gland development, salivary gland cavitation, type II pneumocyte differentiation, type I pneumocyte differentiation, club cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, hindbrain development, anterior commissure morphogenesis, principal sensory nucleus of trigeminal nerve development, glial cell differentiation, response to bacterium, brain development, regulation of transcription by RNA polymerase II, DNA replication, chondrocyte differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000147869 chr9 14719724 14722717 - CER1 protein_coding This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008]. 9350 GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular space, extracellular region, extracellular region, GO:0042803, GO:0036122, GO:0016015, GO:0016015, GO:0005125, protein homodimerization activity, BMP binding, morphogen activity, morphogen activity, cytokine activity, GO:2000381, GO:2000381, GO:1900176, GO:0071773, GO:0061371, GO:0048263, GO:0042074, GO:0035582, GO:0035582, GO:0035582, GO:0032926, GO:0032926, GO:0030514, GO:0030509, GO:0030282, GO:0030178, GO:0023019, GO:0023019, GO:0009952, GO:0009948, GO:0008285, GO:0007399, GO:0007369, GO:0003419, GO:0001657, negative regulation of mesoderm development, negative regulation of mesoderm development, negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry, cellular response to BMP stimulus, determination of heart left/right asymmetry, determination of dorsal identity, cell migration involved in gastrulation, sequestering of BMP in extracellular matrix, sequestering of BMP in extracellular matrix, sequestering of BMP in extracellular matrix, negative regulation of activin receptor signaling pathway, negative regulation of activin receptor signaling pathway, negative regulation of BMP signaling pathway, BMP signaling pathway, bone mineralization, negative regulation of Wnt signaling pathway, signal transduction involved in regulation of gene expression, signal transduction involved in regulation of gene expression, anterior/posterior pattern specification, anterior/posterior axis specification, negative regulation of cell population proliferation, nervous system development, gastrulation, growth plate cartilage chondrocyte proliferation, ureteric bud development, 0 0 0 0 0 0 0 0 0 ENSG00000147872 chr9 19108375 19149290 - PLIN2 protein_coding The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]. 123 GO:0005886, GO:0005829, GO:0005811, GO:0005811, GO:0005783, GO:0005634, GO:0005576, plasma membrane, cytosol, lipid droplet, lipid droplet, endoplasmic reticulum, nucleus, extracellular region, GO:0005515, protein binding, GO:0042493, GO:0019915, GO:0019216, GO:0015909, GO:0014070, GO:0010890, response to drug, lipid storage, regulation of lipid metabolic process, long-chain fatty acid transport, response to organic cyclic compound, positive regulation of sequestering of triglyceride, 94 161 262 2119 1999 2621 2330 1784 2251 ENSG00000147873 chr9 21304326 21305312 - IFNA5 protein_coding 3442 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005132, GO:0005126, GO:0005125, type I interferon receptor binding, cytokine receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 1 2 0 0 0 0 ENSG00000147874 chr9 19053143 19103119 - HAUS6 protein_coding The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]. 54801 GO:0070652, GO:0034451, GO:0016607, GO:0005874, GO:0005829, GO:0005829, GO:0005819, GO:0005813, HAUS complex, centriolar satellite, nuclear speck, microtubule, cytosol, cytosol, spindle, centrosome, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097711, GO:0051301, GO:0051225, GO:0010389, GO:0007098, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, G2/M transition of mitotic cell cycle, 60 77 91 139 95 180 132 83 91 ENSG00000147883 chr9 22002903 22009363 - CDKN2B protein_coding This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]. 1030 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0019901, GO:0005515, GO:0004861, GO:0004861, protein kinase binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, cyclin-dependent protein serine/threonine kinase inhibitor activity, GO:2000134, GO:0090398, GO:0050680, GO:0048536, GO:0045944, GO:0045736, GO:0042326, GO:0031670, GO:0031668, GO:0030511, GO:0030219, GO:0008285, GO:0007093, GO:0007050, GO:0000086, GO:0000079, negative regulation of G1/S transition of mitotic cell cycle, cellular senescence, negative regulation of epithelial cell proliferation, spleen development, positive regulation of transcription by RNA polymerase II, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of phosphorylation, cellular response to nutrient, cellular response to extracellular stimulus, positive regulation of transforming growth factor beta receptor signaling pathway, megakaryocyte differentiation, negative regulation of cell population proliferation, mitotic cell cycle checkpoint, cell cycle arrest, G2/M transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 5 4 5 4 2 1 6 0 3 ENSG00000147885 chr9 21216373 21217311 - IFNA16 protein_coding 3449 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005132, GO:0005125, protein binding, type I interferon receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000147889 chr9 21967753 21995301 - CDKN2A protein_coding This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]. 1029 GO:0035985, GO:0005829, GO:0005737, GO:0005634, senescence-associated heterochromatin focus, cytosol, cytoplasm, nucleus, GO:0051059, GO:0019901, GO:0005515, GO:0004861, GO:0003723, NF-kappaB binding, protein kinase binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, RNA binding, GO:2000774, GO:2000134, GO:2000111, GO:0090399, GO:0090398, GO:0045892, GO:0045736, GO:0042326, GO:0035986, GO:0034393, GO:0032088, GO:0030308, GO:0008285, GO:0008285, GO:0007265, GO:0007050, GO:0007050, GO:0001953, GO:0000082, positive regulation of cellular senescence, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of macrophage apoptotic process, replicative senescence, cellular senescence, negative regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of phosphorylation, senescence-associated heterochromatin focus assembly, positive regulation of smooth muscle cell apoptotic process, negative regulation of NF-kappaB transcription factor activity, negative regulation of cell growth, negative regulation of cell population proliferation, negative regulation of cell population proliferation, Ras protein signal transduction, cell cycle arrest, cell cycle arrest, negative regulation of cell-matrix adhesion, G1/S transition of mitotic cell cycle, 0 4 3 1 0 29 3 3 3 ENSG00000147894 chr9 27546545 27573866 - C9orf72 protein_coding The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]. 203228 GO:1990316, GO:0044304, GO:0044295, GO:0043204, GO:0032045, GO:0031965, GO:0030425, GO:0010494, GO:0005776, GO:0005776, GO:0005768, GO:0005768, GO:0005764, GO:0005737, GO:0005634, GO:0005615, GO:0000932, Atg1/ULK1 kinase complex, main axon, axonal growth cone, perikaryon, guanyl-nucleotide exchange factor complex, nuclear membrane, dendrite, cytoplasmic stress granule, autophagosome, autophagosome, endosome, endosome, lysosome, cytoplasm, nucleus, extracellular space, P-body, GO:0031267, GO:0005515, GO:0005085, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, GO:2000785, GO:1904425, GO:1903432, GO:1902774, GO:0110053, GO:0048675, GO:0034063, GO:0016239, GO:0016239, GO:0010506, GO:0006914, GO:0006914, GO:0006897, GO:0006897, GO:0001933, regulation of autophagosome assembly, negative regulation of GTP binding, regulation of TORC1 signaling, late endosome to lysosome transport, regulation of actin filament organization, axon extension, stress granule assembly, positive regulation of macroautophagy, positive regulation of macroautophagy, regulation of autophagy, autophagy, autophagy, endocytosis, endocytosis, negative regulation of protein phosphorylation, 6599 6986 9119 3747 5172 5426 4039 3711 4112 ENSG00000147896 chr9 27524314 27526498 + IFNK protein_coding This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq, Jul 2008]. 56832 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005132, GO:0005132, GO:0005125, type I interferon receptor binding, type I interferon receptor binding, cytokine activity, GO:0051607, GO:0045089, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0030101, GO:0019221, GO:0019221, GO:0009615, GO:0008285, GO:0006959, GO:0006355, GO:0002323, GO:0002286, GO:0002250, defense response to virus, positive regulation of innate immune response, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, natural killer cell activation, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, response to virus, negative regulation of cell population proliferation, humoral immune response, regulation of transcription, DNA-templated, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 3 2 7 0 0 0 0 1 12 ENSG00000147905 chr9 37120539 37358149 + ZCCHC7 protein_coding 84186 GO:0005829, GO:0005730, cytosol, nucleolus, GO:0008270, GO:0005515, GO:0003723, zinc ion binding, protein binding, RNA binding, 213 225 247 214 246 281 226 236 182 ENSG00000147912 chr9 37510892 37576349 - FBXO10 protein_coding Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 26267 GO:0005829, GO:0005737, GO:0000151, cytosol, cytoplasm, ubiquitin ligase complex, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0043687, GO:0042981, GO:0042981, GO:0016567, GO:0016567, GO:0006915, GO:0006511, GO:0006511, GO:0000209, post-translational protein modification, regulation of apoptotic process, regulation of apoptotic process, protein ubiquitination, protein ubiquitination, apoptotic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 2 0 7 14 1 1 3 2 0 ENSG00000147955 chr9 34634722 34637809 - SIGMAR1 protein_coding This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]. 10280 GO:0098839, GO:0031410, GO:0030426, GO:0016021, GO:0016020, GO:0014069, GO:0005811, GO:0005789, GO:0005783, GO:0005783, GO:0005640, GO:0005637, GO:0005635, postsynaptic density membrane, cytoplasmic vesicle, growth cone, integral component of membrane, membrane, postsynaptic density, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nuclear outer membrane, nuclear inner membrane, nuclear envelope, GO:0005515, GO:0004985, protein binding, opioid receptor activity, GO:0070207, GO:0043523, GO:0038003, GO:0036474, GO:0007399, GO:0006869, protein homotrimerization, regulation of neuron apoptotic process, opioid receptor signaling pathway, cell death in response to hydrogen peroxide, nervous system development, lipid transport, 50 46 59 69 51 71 48 62 71 ENSG00000147996 chr9 65668805 65734041 + CBWD5 protein_coding 220869 GO:0005737, cytoplasm, GO:0005524, ATP binding, 135 187 161 145 274 243 262 178 216 ENSG00000148019 chr9 78236062 78279690 + CEP78 protein_coding This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]. 84131 GO:0036064, GO:0005829, GO:0005814, GO:0005813, GO:0005813, ciliary basal body, cytosol, centriole, centrosome, centrosome, GO:0097711, GO:0044782, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, cilium organization, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 40 45 110 124 49 212 93 41 137 ENSG00000148053 chr9 84668551 85027070 + NTRK2 protein_coding This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 4915 GO:0048471, GO:0043679, GO:0043235, GO:0043235, GO:0043197, GO:0043195, GO:0031901, GO:0030425, GO:0030424, GO:0030424, GO:0014069, GO:0014069, GO:0005887, GO:0005887, GO:0005886, GO:0005829, GO:0005769, GO:0000139, perinuclear region of cytoplasm, axon terminus, receptor complex, receptor complex, dendritic spine, terminal bouton, early endosome membrane, dendrite, axon, axon, postsynaptic density, postsynaptic density, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytosol, early endosome, Golgi membrane, GO:0060175, GO:0060175, GO:0048403, GO:0048403, GO:0043121, GO:0043121, GO:0043121, GO:0042803, GO:0005524, GO:0005515, GO:0005030, GO:0004714, GO:0004713, GO:0002020, brain-derived neurotrophic factor-activated receptor activity, brain-derived neurotrophic factor-activated receptor activity, brain-derived neurotrophic factor binding, brain-derived neurotrophic factor binding, neurotrophin binding, neurotrophin binding, neurotrophin binding, protein homodimerization activity, ATP binding, protein binding, neurotrophin receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protease binding, GO:2000811, GO:1990416, GO:1990090, GO:1903997, GO:1902430, GO:0099551, GO:0071230, GO:0070374, GO:0060291, GO:0051965, GO:0051896, GO:0050772, GO:0048935, GO:0048709, GO:0048011, GO:0046777, GO:0046548, GO:0043524, GO:0043410, GO:0043410, GO:0043087, GO:0042490, GO:0033674, GO:0033138, GO:0031547, GO:0031547, GO:0030182, GO:0022011, GO:0021987, GO:0021954, GO:0019227, GO:0018108, GO:0014068, GO:0014068, GO:0014047, GO:0010976, GO:0010976, GO:0010628, GO:0008284, GO:0007631, GO:0007623, GO:0007612, GO:0007275, GO:0007202, GO:0007169, GO:0001934, GO:0001764, GO:0001570, negative regulation of anoikis, cellular response to brain-derived neurotrophic factor stimulus, cellular response to nerve growth factor stimulus, positive regulation of non-membrane spanning protein tyrosine kinase activity, negative regulation of amyloid-beta formation, trans-synaptic signaling by neuropeptide, modulating synaptic transmission, cellular response to amino acid stimulus, positive regulation of ERK1 and ERK2 cascade, long-term synaptic potentiation, positive regulation of synapse assembly, regulation of protein kinase B signaling, positive regulation of axonogenesis, peripheral nervous system neuron development, oligodendrocyte differentiation, neurotrophin TRK receptor signaling pathway, protein autophosphorylation, retinal rod cell development, negative regulation of neuron apoptotic process, positive regulation of MAPK cascade, positive regulation of MAPK cascade, regulation of GTPase activity, mechanoreceptor differentiation, positive regulation of kinase activity, positive regulation of peptidyl-serine phosphorylation, brain-derived neurotrophic factor receptor signaling pathway, brain-derived neurotrophic factor receptor signaling pathway, neuron differentiation, myelination in peripheral nervous system, cerebral cortex development, central nervous system neuron development, neuronal action potential propagation, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, glutamate secretion, positive regulation of neuron projection development, positive regulation of neuron projection development, positive regulation of gene expression, positive regulation of cell population proliferation, feeding behavior, circadian rhythm, learning, multicellular organism development, activation of phospholipase C activity, transmembrane receptor protein tyrosine kinase signaling pathway, positive regulation of protein phosphorylation, neuron migration, vasculogenesis, 0 0 0 0 0 0 1 0 0 ENSG00000148057 chr9 83623049 83644130 + IDNK protein_coding 414328 GO:0046316, GO:0005524, GO:0003674, gluconokinase activity, ATP binding, molecular_function, GO:0046177, GO:0046177, GO:0016310, GO:0008150, D-gluconate catabolic process, D-gluconate catabolic process, phosphorylation, biological_process, 4 8 15 13 10 42 8 10 20 ENSG00000148082 chr9 89005771 89178767 - SHC3 protein_coding 53358 GO:0045202, GO:0005886, GO:0005829, GO:0005575, synapse, plasma membrane, cytosol, cellular_component, GO:0030971, GO:0019901, GO:0005515, GO:0001784, receptor tyrosine kinase binding, protein kinase binding, protein binding, phosphotyrosine residue binding, GO:0035249, GO:0007611, GO:0007417, GO:0007411, GO:0007265, GO:0007173, GO:0007169, GO:0000165, synaptic transmission, glutamatergic, learning or memory, central nervous system development, axon guidance, Ras protein signal transduction, epidermal growth factor receptor signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, MAPK cascade, 0 0 0 1 3 0 0 0 0 ENSG00000148090 chr9 91213815 91361913 - AUH protein_coding This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 549 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0050011, GO:0004490, GO:0004300, GO:0004300, GO:0003730, itaconyl-CoA hydratase activity, methylglutaconyl-CoA hydratase activity, enoyl-CoA hydratase activity, enoyl-CoA hydratase activity, mRNA 3'-UTR binding, GO:0009083, GO:0006635, GO:0006552, branched-chain amino acid catabolic process, fatty acid beta-oxidation, leucine catabolic process, 95 93 101 54 77 86 85 84 42 ENSG00000148110 chr9 94374551 94461042 + MFSD14B protein_coding 84641 GO:0016021, integral component of membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, transmembrane transport, 2213 478 729 938 431 364 1134 312 310 ENSG00000148120 chr9 94726701 95087218 + C9orf3 protein_coding This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]. 84909 GO:0005829, GO:0005730, GO:0005730, cytosol, nucleolus, nucleolus, GO:0070006, GO:0008270, metalloaminopeptidase activity, zinc ion binding, GO:0002003, angiotensin maturation, 9 32 17 11 31 12 21 15 24 ENSG00000148123 chr9 101028709 101325135 + PLPPR1 protein_coding This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]. 54886 GO:0005887, GO:0005654, integral component of plasma membrane, nucleoplasm, GO:0042577, GO:0008195, GO:0005515, lipid phosphatase activity, phosphatidate phosphatase activity, protein binding, GO:0046839, GO:0007399, GO:0007165, GO:0006644, phospholipid dephosphorylation, nervous system development, signal transduction, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000148136 chr9 104526253 104527209 - OR13C4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 138804 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000148143 chr9 106863097 107013634 + ZNF462 protein_coding The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 58499 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0045944, GO:0043392, GO:0010468, GO:0006325, positive regulation of transcription by RNA polymerase II, negative regulation of DNA binding, regulation of gene expression, chromatin organization, 1 1 0 1 0 1 0 0 0 ENSG00000148153 chr9 112683926 112718236 - INIP protein_coding The protein encoded by this gene is a subunit of single-stranded DNA binding complexes that are important for maintaining genome stability. These complexes are involved in G2/M checkpoint control and homologous recombination repair. [provided by RefSeq, Jul 2016]. 58493 GO:0070876, GO:0070876, GO:0005654, GO:0005654, GO:0005634, SOSS complex, SOSS complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0010212, GO:0006974, GO:0006281, GO:0006281, response to ionizing radiation, cellular response to DNA damage stimulus, DNA repair, DNA repair, 333 257 474 163 172 207 180 123 128 ENSG00000148154 chr9 111896766 111935369 + UGCG protein_coding This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]. 7357 GO:0016021, GO:0016020, GO:0000139, GO:0000139, integral component of membrane, membrane, Golgi membrane, Golgi membrane, GO:0102769, GO:0008120, GO:0008120, GO:0008120, GO:0005515, dihydroceramide glucosyltransferase activity, ceramide glucosyltransferase activity, ceramide glucosyltransferase activity, ceramide glucosyltransferase activity, protein binding, GO:1903575, GO:0098856, GO:0061436, GO:0048666, GO:0033210, GO:0030216, GO:0030154, GO:0009966, GO:0008544, GO:0006687, GO:0006679, GO:0006679, GO:0006497, cornified envelope assembly, intestinal lipid absorption, establishment of skin barrier, neuron development, leptin-mediated signaling pathway, keratinocyte differentiation, cell differentiation, regulation of signal transduction, epidermis development, glycosphingolipid metabolic process, glucosylceramide biosynthetic process, glucosylceramide biosynthetic process, protein lipidation, 143 167 231 160 214 243 183 169 143 ENSG00000148156 chr9 108854589 108856967 - ACTL7B protein_coding The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]. 10880 GO:0005869, GO:0005737, GO:0005634, dynactin complex, cytoplasm, nucleus, GO:0005515, GO:0005200, protein binding, structural constituent of cytoskeleton, GO:0007010, cytoskeleton organization, 0 0 0 0 0 0 0 0 2 ENSG00000148158 chr9 112750838 112881671 + SNX30 protein_coding 401548 GO:0035091, GO:0005515, phosphatidylinositol binding, protein binding, GO:0015031, protein transport, 315 316 423 208 314 308 249 292 235 ENSG00000148175 chr9 121338988 121370304 - STOM protein_coding This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 2040 GO:0072562, GO:0070821, GO:0070062, GO:0048471, GO:0045121, GO:0042470, GO:0035579, GO:0035577, GO:0031982, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005783, GO:0005739, GO:0005615, blood microparticle, tertiary granule membrane, extracellular exosome, perinuclear region of cytoplasm, membrane raft, melanosome, specific granule membrane, azurophil granule membrane, vesicle, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, endoplasmic reticulum, mitochondrion, extracellular space, GO:0070063, GO:0042803, GO:0042802, GO:0005515, RNA polymerase binding, protein homodimerization activity, identical protein binding, protein binding, GO:1901585, GO:0090314, GO:0044829, GO:0043312, regulation of acid-sensing ion channel activity, positive regulation of protein targeting to membrane, positive regulation by host of viral genome replication, neutrophil degranulation, 242 195 304 251 187 347 221 168 332 ENSG00000148180 chr9 121207794 121332843 + GSN protein_coding The protein encoded by this gene binds to the 'plus' ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2934 GO:1904813, GO:0072562, GO:0070062, GO:0048471, GO:0045335, GO:0043209, GO:0034774, GO:0032991, GO:0030864, GO:0030864, GO:0030478, GO:0030027, GO:0016528, GO:0015629, GO:0005925, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, GO:0005576, GO:0002102, GO:0001726, ficolin-1-rich granule lumen, blood microparticle, extracellular exosome, perinuclear region of cytoplasm, phagocytic vesicle, myelin sheath, secretory granule lumen, protein-containing complex, cortical actin cytoskeleton, cortical actin cytoskeleton, actin cap, lamellipodium, sarcoplasm, actin cytoskeleton, focal adhesion, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, extracellular region, podosome, ruffle, GO:0051015, GO:0045159, GO:0036313, GO:0005546, GO:0005515, GO:0005509, GO:0003779, actin filament binding, myosin II binding, phosphatidylinositol 3-kinase catalytic subunit binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, calcium ion binding, actin binding, GO:2001269, GO:1990000, GO:1903923, GO:1903909, GO:1903906, GO:1903903, GO:1902174, GO:0097284, GO:0097017, GO:0090527, GO:0086003, GO:0071801, GO:0071346, GO:0071276, GO:0060271, GO:0055119, GO:0051693, GO:0051693, GO:0051593, GO:0051127, GO:0051016, GO:0051014, GO:0051014, GO:0051014, GO:0048015, GO:0046597, GO:0045471, GO:0045010, GO:0044267, GO:0043312, GO:0042989, GO:0042246, GO:0042060, GO:0035994, GO:0031648, GO:0030155, GO:0030042, GO:0030041, GO:0030041, GO:0030031, GO:0022617, GO:0014891, GO:0014003, GO:0010628, GO:0008154, GO:0007568, GO:0007417, GO:0006911, positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, amyloid fibril formation, positive regulation of protein processing in phagocytic vesicle, regulation of receptor clustering, regulation of plasma membrane raft polarization, regulation of establishment of T cell polarity, positive regulation of keratinocyte apoptotic process, hepatocyte apoptotic process, renal protein absorption, actin filament reorganization, cardiac muscle cell contraction, regulation of podosome assembly, cellular response to interferon-gamma, cellular response to cadmium ion, cilium assembly, relaxation of cardiac muscle, actin filament capping, actin filament capping, response to folic acid, positive regulation of actin nucleation, barbed-end actin filament capping, actin filament severing, actin filament severing, actin filament severing, phosphatidylinositol-mediated signaling, negative regulation of viral entry into host cell, response to ethanol, actin nucleation, cellular protein metabolic process, neutrophil degranulation, sequestering of actin monomers, tissue regeneration, wound healing, response to muscle stretch, protein destabilization, regulation of cell adhesion, actin filament depolymerization, actin filament polymerization, actin filament polymerization, cell projection assembly, extracellular matrix disassembly, striated muscle atrophy, oligodendrocyte development, positive regulation of gene expression, actin polymerization or depolymerization, aging, central nervous system development, phagocytosis, engulfment, 2790 2499 3068 652 1410 1115 904 1344 967 ENSG00000148187 chr9 122264603 122331343 + MRRF protein_coding This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Oct 2016]. 92399 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0043023, GO:0005515, ribosomal large subunit binding, protein binding, GO:0070126, GO:0032790, GO:0006412, mitochondrial translational termination, ribosome disassembly, translation, 60 48 76 66 51 56 48 36 49 ENSG00000148200 chr9 124517275 124771310 - NR6A1 protein_coding This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]. 2649 GO:0005667, GO:0005654, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0043565, GO:0042803, GO:0008270, GO:0004879, GO:0003677, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein homodimerization activity, zinc ion binding, nuclear receptor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030522, GO:0007276, GO:0006367, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, intracellular receptor signaling pathway, gamete generation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 239 329 330 185 382 306 285 196 272 ENSG00000148204 chr9 123356170 123380324 + CRB2 protein_coding This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]. 286204 GO:0070062, GO:0032991, GO:0032991, GO:0016324, GO:0016021, GO:0005886, extracellular exosome, protein-containing complex, protein-containing complex, apical plasma membrane, integral component of membrane, plasma membrane, GO:0044877, GO:0019828, GO:0005515, GO:0005509, protein-containing complex binding, aspartic-type endopeptidase inhibitor activity, protein binding, calcium ion binding, GO:0072359, GO:0055111, GO:0045199, GO:0045197, GO:0030513, GO:0014028, GO:0010951, GO:0010718, GO:0010470, GO:0007157, GO:0001756, GO:0001707, circulatory system development, ingression involved in gastrulation with mouth forming second, maintenance of epithelial cell apical/basal polarity, establishment or maintenance of epithelial cell apical/basal polarity, positive regulation of BMP signaling pathway, notochord formation, negative regulation of endopeptidase activity, positive regulation of epithelial to mesenchymal transition, regulation of gastrulation, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, somitogenesis, mesoderm formation, 25 37 32 33 32 20 13 40 26 ENSG00000148215 chr9 122788933 122789895 + OR5C1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 392391 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000148218 chr9 113386317 113401333 - ALAD protein_coding The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 210 GO:1904813, GO:0070062, GO:0034774, GO:0005829, GO:0005829, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, cytosol, cytosol, nucleus, extracellular region, GO:1904854, GO:0042802, GO:0008270, GO:0008270, GO:0004655, GO:0004655, GO:0003824, proteasome core complex binding, identical protein binding, zinc ion binding, zinc ion binding, porphobilinogen synthase activity, porphobilinogen synthase activity, catalytic activity, GO:1901799, GO:0071353, GO:0071284, GO:0070542, GO:0070541, GO:0051597, GO:0051384, GO:0051260, GO:0046689, GO:0046686, GO:0046685, GO:0045471, GO:0043312, GO:0043200, GO:0042493, GO:0033197, GO:0032496, GO:0032025, GO:0014823, GO:0010269, GO:0010266, GO:0010212, GO:0010044, GO:0010043, GO:0010039, GO:0009635, GO:0006979, GO:0006783, GO:0006783, GO:0006783, GO:0006782, GO:0001666, negative regulation of proteasomal protein catabolic process, cellular response to interleukin-4, cellular response to lead ion, response to fatty acid, response to platinum ion, response to methylmercury, response to glucocorticoid, protein homooligomerization, response to mercury ion, response to cadmium ion, response to arsenic-containing substance, response to ethanol, neutrophil degranulation, response to amino acid, response to drug, response to vitamin E, response to lipopolysaccharide, response to cobalt ion, response to activity, response to selenium ion, response to vitamin B1, response to ionizing radiation, response to aluminum ion, response to zinc ion, response to iron ion, response to herbicide, response to oxidative stress, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, protoporphyrinogen IX biosynthetic process, response to hypoxia, 90 109 125 77 105 97 102 81 122 ENSG00000148219 chr9 116425225 117415070 - ASTN2 protein_coding This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]. 23245 GO:0060187, GO:0043204, GO:0030136, GO:0016021, GO:0005938, GO:0005770, GO:0005769, GO:0005768, cell pole, perikaryon, clathrin-coated vesicle, integral component of membrane, cell cortex, late endosome, early endosome, endosome, GO:0043533, GO:0043533, GO:0005509, inositol 1,3,4,5 tetrakisphosphate binding, inositol 1,3,4,5 tetrakisphosphate binding, calcium ion binding, GO:2000009, GO:0048105, GO:0015031, GO:0007158, GO:0001764, negative regulation of protein localization to cell surface, establishment of body hair planar orientation, protein transport, neuron cell-cell adhesion, neuron migration, 2 0 6 6 2 0 0 2 3 ENSG00000148225 chr9 113313222 113340298 - WDR31 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. 114987 1 0 1 2 0 4 3 4 0 ENSG00000148229 chr9 113407235 113410672 - POLE3 protein_coding POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]. 54107 GO:0008623, GO:0008622, GO:0008622, GO:0005671, GO:0005654, GO:0005634, CHRAC, epsilon DNA polymerase complex, epsilon DNA polymerase complex, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, nucleus, GO:0046982, GO:0031490, GO:0005515, GO:0003887, protein heterodimerization activity, chromatin DNA binding, protein binding, DNA-directed DNA polymerase activity, GO:0071897, GO:0043966, GO:0042766, GO:0032201, GO:0031507, GO:0006974, GO:0006272, GO:0006270, GO:0006260, GO:0000082, DNA biosynthetic process, histone H3 acetylation, nucleosome mobilization, telomere maintenance via semi-conservative replication, heterochromatin assembly, cellular response to DNA damage stimulus, leading strand elongation, DNA replication initiation, DNA replication, G1/S transition of mitotic cell cycle, 101 90 117 96 63 160 83 74 73 ENSG00000148248 chr9 133361449 133376166 - SURF4 protein_coding This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 6836 GO:0035577, GO:0033116, GO:0030133, GO:0016021, GO:0005886, GO:0005829, GO:0005793, GO:0005789, GO:0000139, azurophil granule membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, transport vesicle, integral component of membrane, plasma membrane, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, protein binding, GO:0043312, GO:0034498, GO:0032527, GO:0010638, GO:0007030, GO:0006890, neutrophil degranulation, early endosome to Golgi transport, protein exit from endoplasmic reticulum, positive regulation of organelle organization, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 856 978 1231 605 620 797 668 515 659 ENSG00000148288 chr9 133152948 133163945 - GBGT1 protein_coding This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 26301 GO:0031982, GO:0016021, GO:0005794, GO:0000139, vesicle, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0047277, GO:0046872, GO:0016757, globoside alpha-N-acetylgalactosaminyltransferase activity, metal ion binding, transferase activity, transferring glycosyl groups, GO:0030259, GO:0009247, GO:0006486, GO:0005975, lipid glycosylation, glycolipid biosynthetic process, protein glycosylation, carbohydrate metabolic process, 53 27 46 38 48 75 71 30 31 ENSG00000148290 chr9 133351755 133356676 - SURF1 protein_coding This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]. 6834 GO:0016021, GO:0005746, integral component of membrane, mitochondrial respirasome, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0055114, GO:0033617, GO:0022900, GO:0009060, GO:0008535, GO:0006119, proton transmembrane transport, oxidation-reduction process, mitochondrial cytochrome c oxidase assembly, electron transport chain, aerobic respiration, respiratory chain complex IV assembly, oxidative phosphorylation, 189 166 191 129 164 136 148 165 136 ENSG00000148291 chr9 133356552 133361169 + SURF2 protein_coding This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues. [provided by RefSeq, Jul 2013]. 6835 GO:0016607, GO:0005886, GO:0005730, GO:0005654, nuclear speck, plasma membrane, nucleolus, nucleoplasm, GO:0003674, molecular_function, GO:0008150, biological_process, 19 16 18 42 20 30 31 25 22 ENSG00000148296 chr9 133328774 133336398 - SURF6 protein_coding This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 6838 GO:0005730, GO:0005654, GO:0001652, nucleolus, nucleoplasm, granular component, GO:0005515, GO:0003723, GO:0003723, GO:0003723, GO:0003677, GO:0003677, protein binding, RNA binding, RNA binding, RNA binding, DNA binding, DNA binding, GO:0042274, GO:0042273, ribosomal small subunit biogenesis, ribosomal large subunit biogenesis, 116 190 187 225 328 292 228 204 244 ENSG00000148297 chr9 133338323 133348131 - MED22 protein_coding This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]. 6837 GO:0016592, GO:0016592, GO:0005737, mediator complex, mediator complex, cytoplasm, GO:0005515, GO:0003712, protein binding, transcription coregulator activity, GO:0006357, regulation of transcription by RNA polymerase II, 234 229 267 155 243 191 172 216 153 ENSG00000148300 chr9 133406059 133418096 - REXO4 protein_coding 57109 GO:0016607, GO:0005730, GO:0005654, GO:0005634, GO:0005634, nuclear speck, nucleolus, nucleoplasm, nucleus, nucleus, GO:0008408, GO:0005515, GO:0004527, GO:0004519, GO:0003723, GO:0003697, GO:0003690, 3'-5' exonuclease activity, protein binding, exonuclease activity, endonuclease activity, RNA binding, single-stranded DNA binding, double-stranded DNA binding, GO:0006364, GO:0006355, GO:0000738, GO:0000738, GO:0000737, GO:0000737, GO:0000726, GO:0000726, rRNA processing, regulation of transcription, DNA-templated, DNA catabolic process, exonucleolytic, DNA catabolic process, exonucleolytic, DNA catabolic process, endonucleolytic, DNA catabolic process, endonucleolytic, non-recombinational repair, non-recombinational repair, 9 10 24 28 11 42 28 13 29 ENSG00000148303 chr9 133348214 133351426 + RPL7A protein_coding Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6130 GO:0042788, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, GO:0005737, GO:0005730, GO:0005730, GO:0005634, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, cytoplasm, nucleolus, nucleolus, nucleus, GO:0045296, GO:0005515, GO:0003735, GO:0003723, GO:0003723, cadherin binding, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000470, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, maturation of LSU-rRNA, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1166 951 1745 2756 1498 3114 1940 1356 2125 ENSG00000148308 chr9 133030675 133058503 + GTF3C5 protein_coding 9328 GO:0005654, GO:0005654, GO:0000127, GO:0000127, nucleoplasm, nucleoplasm, transcription factor TFIIIC complex, transcription factor TFIIIC complex, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0042797, GO:0042791, GO:0035914, GO:0006384, GO:0006383, tRNA transcription by RNA polymerase III, 5S class rRNA transcription by RNA polymerase III, skeletal muscle cell differentiation, transcription initiation from RNA polymerase III promoter, transcription by RNA polymerase III, 113 133 165 177 202 189 182 160 134 ENSG00000148331 chr9 129634604 129642169 - ASB6 protein_coding The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]. 140459 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 198 239 340 214 292 299 259 246 250 ENSG00000148334 chr9 128120693 128128462 - PTGES2 protein_coding The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009]. 80142 GO:0048471, GO:0035578, GO:0016021, GO:0005829, GO:0005829, GO:0005739, GO:0005739, GO:0005739, GO:0005634, GO:0005576, GO:0000139, perinuclear region of cytoplasm, azurophil granule lumen, integral component of membrane, cytosol, cytosol, mitochondrion, mitochondrion, mitochondrion, nucleus, extracellular region, Golgi membrane, GO:0050220, GO:0050220, GO:0043295, GO:0020037, GO:0016829, GO:0016829, GO:0015035, GO:0009055, GO:0005515, GO:0003677, prostaglandin-E synthase activity, prostaglandin-E synthase activity, glutathione binding, heme binding, lyase activity, lyase activity, protein disulfide oxidoreductase activity, electron transfer activity, protein binding, DNA binding, GO:0045893, GO:0043312, GO:0022900, GO:0019371, GO:0006629, positive regulation of transcription, DNA-templated, neutrophil degranulation, electron transport chain, cyclooxygenase pathway, lipid metabolic process, 19 21 40 32 23 67 47 31 78 ENSG00000148335 chr9 129608884 129636131 + NTMT1 protein_coding The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010]. 28989 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0071885, GO:0071885, GO:0042054, GO:0008276, GO:0008168, GO:0005515, N-terminal protein N-methyltransferase activity, N-terminal protein N-methyltransferase activity, histone methyltransferase activity, protein methyltransferase activity, methyltransferase activity, protein binding, GO:0035573, GO:0035572, GO:0035570, GO:0035568, GO:0018016, GO:0018013, GO:0018012, GO:0018011, GO:0016571, GO:0007059, GO:0007051, GO:0006480, N-terminal peptidyl-serine trimethylation, N-terminal peptidyl-serine dimethylation, N-terminal peptidyl-serine methylation, N-terminal peptidyl-proline methylation, N-terminal peptidyl-proline dimethylation, N-terminal peptidyl-glycine methylation, N-terminal peptidyl-alanine trimethylation, N-terminal peptidyl-alanine methylation, histone methylation, chromosome segregation, spindle organization, N-terminal protein amino acid methylation, 92 117 157 133 150 180 133 120 104 ENSG00000148337 chr9 128166064 128204383 - CIZ1 protein_coding The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 25792 GO:0005886, GO:0005654, GO:0005634, GO:0005634, plasma membrane, nucleoplasm, nucleus, nucleus, GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, 92 104 168 244 98 323 163 90 203 ENSG00000148339 chr9 128068201 128109245 + SLC25A25 protein_coding The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]. 114789 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0005509, GO:0005347, calcium ion binding, ATP transmembrane transporter activity, GO:0070588, GO:0060612, GO:0046034, GO:0045333, GO:0043010, GO:0035264, GO:0032094, GO:0015867, GO:0014823, GO:0002021, calcium ion transmembrane transport, adipose tissue development, ATP metabolic process, cellular respiration, camera-type eye development, multicellular organism growth, response to food, ATP transport, response to activity, response to dietary excess, 61 96 89 88 102 101 106 90 76 ENSG00000148341 chr9 129007036 129028303 - SH3GLB2 protein_coding 56904 GO:0005829, GO:0005737, GO:0005654, cytosol, cytoplasm, nucleoplasm, GO:0045296, GO:0042802, GO:0005515, cadherin binding, identical protein binding, protein binding, 230 249 370 334 219 358 294 181 299 ENSG00000148343 chr9 129036621 129072082 + MIGA2 protein_coding 84895 GO:0005887, GO:0005741, integral component of plasma membrane, mitochondrial outer membrane, GO:0046982, GO:0042803, GO:0005515, protein heterodimerization activity, protein homodimerization activity, protein binding, GO:0060348, GO:0008053, GO:0008053, bone development, mitochondrial fusion, mitochondrial fusion, 136 129 210 178 180 233 190 154 186 ENSG00000148344 chr9 129738331 129753047 - PTGES protein_coding The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq, Jul 2008]. 9536 GO:0048471, GO:0016021, GO:0016021, GO:0016020, GO:0005789, GO:0005641, perinuclear region of cytoplasm, integral component of membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, nuclear envelope lumen, GO:0050220, GO:0050220, GO:0043295, GO:0005515, GO:0004667, GO:0004602, GO:0004364, prostaglandin-E synthase activity, prostaglandin-E synthase activity, glutathione binding, protein binding, prostaglandin-D synthase activity, glutathione peroxidase activity, glutathione transferase activity, GO:0098869, GO:0055114, GO:0051592, GO:0050727, GO:0034097, GO:0032526, GO:0032496, GO:0032308, GO:0031620, GO:0019371, GO:0019233, GO:0014070, GO:0008285, GO:0007165, GO:0006693, GO:0002544, GO:0002526, GO:0001516, GO:0001516, cellular oxidant detoxification, oxidation-reduction process, response to calcium ion, regulation of inflammatory response, response to cytokine, response to retinoic acid, response to lipopolysaccharide, positive regulation of prostaglandin secretion, regulation of fever generation, cyclooxygenase pathway, sensory perception of pain, response to organic cyclic compound, negative regulation of cell population proliferation, signal transduction, prostaglandin metabolic process, chronic inflammatory response, acute inflammatory response, prostaglandin biosynthetic process, prostaglandin biosynthetic process, 27 46 115 7 17 24 11 21 23 ENSG00000148346 chr9 128149071 128153455 + LCN2 protein_coding This gene encodes a protein that belongs to the lipocalin family. Members of this family transport small hydrophobic molecules such as lipids, steroid hormones and retinoids. The protein encoded by this gene is a neutrophil gelatinase-associated lipocalin and plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores. The presence of this protein in blood and urine is an early biomarker of acute kidney injury. This protein is thought to be be involved in multiple cellular processes, including maintenance of skin homeostasis, and suppression of invasiveness and metastasis. Mice lacking this gene are more susceptible to bacterial infection than wild type mice. [provided by RefSeq, Sep 2015]. 3934 GO:0070062, GO:0035580, GO:0005829, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, specific granule lumen, cytosol, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:1903981, GO:0042802, GO:0036094, GO:0005549, GO:0005515, GO:0005506, GO:0005506, GO:0002020, enterobactin binding, identical protein binding, small molecule binding, odorant binding, protein binding, iron ion binding, iron ion binding, protease binding, GO:0120162, GO:0097577, GO:0097192, GO:0071356, GO:0071347, GO:0071222, GO:0070301, GO:0045087, GO:0043312, GO:0042742, GO:0042493, GO:0031669, GO:0031346, GO:0019730, GO:0019221, GO:0015891, GO:0010628, GO:0010046, GO:0009635, GO:0009615, GO:0006879, positive regulation of cold-induced thermogenesis, sequestering of iron ion, extrinsic apoptotic signaling pathway in absence of ligand, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to lipopolysaccharide, cellular response to hydrogen peroxide, innate immune response, neutrophil degranulation, defense response to bacterium, response to drug, cellular response to nutrient levels, positive regulation of cell projection organization, antimicrobial humoral response, cytokine-mediated signaling pathway, siderophore transport, positive regulation of gene expression, response to mycotoxin, response to herbicide, response to virus, cellular iron ion homeostasis, 6 11 46 15 24 34 3 14 35 ENSG00000148356 chr9 127451486 127503501 + LRSAM1 protein_coding This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]. 90678 GO:0016020, GO:0005829, GO:0005737, membrane, cytosol, cytoplasm, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:2000786, GO:1904417, GO:0070086, GO:0051865, GO:0046755, GO:0045806, GO:0030163, GO:0006914, GO:0000209, positive regulation of autophagosome assembly, positive regulation of xenophagy, ubiquitin-dependent endocytosis, protein autoubiquitination, viral budding, negative regulation of endocytosis, protein catabolic process, autophagy, protein polyubiquitination, 174 247 244 247 333 227 212 191 190 ENSG00000148357 chr9 130265882 130434123 + HMCN2 protein_coding 256158 GO:0062023, GO:0032154, GO:0031012, GO:0030054, GO:0005938, GO:0005615, GO:0005604, collagen-containing extracellular matrix, cleavage furrow, extracellular matrix, cell junction, cell cortex, extracellular space, basement membrane, GO:0005509, GO:0005201, calcium ion binding, extracellular matrix structural constituent, GO:0050896, response to stimulus, 0 0 0 3 0 0 0 0 0 ENSG00000148358 chr9 130053426 130140169 + GPR107 protein_coding 57720 GO:0030136, GO:0016021, GO:0016020, GO:0005886, GO:0005794, GO:0005794, GO:0005769, GO:0005654, clathrin-coated vesicle, integral component of membrane, membrane, plasma membrane, Golgi apparatus, Golgi apparatus, early endosome, nucleoplasm, GO:0032050, clathrin heavy chain binding, GO:0072583, GO:0006810, clathrin-dependent endocytosis, transport, 655 771 734 458 737 689 637 565 488 ENSG00000148362 chr9 136992418 136993984 + PAXX protein_coding The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]. 286257 GO:0070419, GO:0070419, GO:0043564, GO:0035861, GO:0035861, GO:0005654, GO:0005634, GO:0005634, nonhomologous end joining complex, nonhomologous end joining complex, Ku70:Ku80 complex, site of double-strand break, site of double-strand break, nucleoplasm, nucleus, nucleus, GO:0060090, GO:0060090, GO:0042803, GO:0005515, molecular adaptor activity, molecular adaptor activity, protein homodimerization activity, protein binding, GO:0051103, GO:0051103, GO:0006974, GO:0006303, GO:0006303, DNA ligation involved in DNA repair, DNA ligation involved in DNA repair, cellular response to DNA damage stimulus, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, 46 35 82 84 75 126 70 64 131 ENSG00000148377 chr10 1018907 1025859 - IDI2 protein_coding The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2016]. 91734 GO:0005829, GO:0005777, GO:0005737, cytosol, peroxisome, cytoplasm, GO:0046872, GO:0016787, GO:0005515, GO:0004452, GO:0004452, metal ion binding, hydrolase activity, protein binding, isopentenyl-diphosphate delta-isomerase activity, isopentenyl-diphosphate delta-isomerase activity, GO:0050992, GO:0046490, GO:0009240, GO:0008299, GO:0006695, dimethylallyl diphosphate biosynthetic process, isopentenyl diphosphate metabolic process, isopentenyl diphosphate biosynthetic process, isoprenoid biosynthetic process, cholesterol biosynthetic process, 1 1 3 5 6 7 1 2 1 ENSG00000148384 chr9 136428619 136439823 - INPP5E protein_coding The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 56623 GO:0032580, GO:0005930, GO:0005929, GO:0005886, GO:0005829, GO:0005634, GO:0001726, Golgi cisterna membrane, axoneme, cilium, plasma membrane, cytosol, nucleus, ruffle, GO:0016314, GO:0004445, GO:0004439, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity, inositol-polyphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, GO:1903565, GO:0046856, GO:0046855, GO:0017148, GO:0014067, GO:0008150, GO:0006661, negative regulation of protein localization to cilium, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, negative regulation of translation, negative regulation of phosphatidylinositol 3-kinase signaling, biological_process, phosphatidylinositol biosynthetic process, 14 14 20 26 18 37 21 25 30 ENSG00000148386 chr9 135663322 135666422 + LCN9 protein_coding Members of the lipocalin family, such as LCN9, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]. 392399 GO:0005615, extracellular space, GO:0036094, GO:0005549, GO:0005515, small molecule binding, odorant binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000148396 chr9 136440096 136483759 - SEC16A protein_coding This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]. 9919 GO:0070971, GO:0070971, GO:0048471, GO:0031090, GO:0012507, GO:0005829, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0000139, endoplasmic reticulum exit site, endoplasmic reticulum exit site, perinuclear region of cytoplasm, organelle membrane, ER to Golgi transport vesicle membrane, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:0072659, GO:0070973, GO:0070973, GO:0070863, GO:0050821, GO:0048208, GO:0048208, GO:0043000, GO:0034976, GO:0032527, GO:0021762, GO:0007030, GO:0007029, GO:0007029, GO:0007029, GO:0006914, GO:0006888, protein localization to plasma membrane, protein localization to endoplasmic reticulum exit site, protein localization to endoplasmic reticulum exit site, positive regulation of protein exit from endoplasmic reticulum, protein stabilization, COPII vesicle coating, COPII vesicle coating, Golgi to plasma membrane CFTR protein transport, response to endoplasmic reticulum stress, protein exit from endoplasmic reticulum, substantia nigra development, Golgi organization, endoplasmic reticulum organization, endoplasmic reticulum organization, endoplasmic reticulum organization, autophagy, endoplasmic reticulum to Golgi vesicle-mediated transport, 2306 2057 3871 1311 1352 1621 1448 1000 1235 ENSG00000148399 chr9 137554904 137578935 - DPH7 protein_coding Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]. 92715 GO:0061685, GO:0005515, diphthine methylesterase activity, protein binding, GO:0017183, GO:0017183, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, 29 68 46 67 60 91 74 48 64 ENSG00000148400 chr9 136494433 136545786 - NOTCH1 protein_coding This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]. 4851 GO:0043235, GO:0043235, GO:0016324, GO:0016021, GO:0009986, GO:0005912, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005789, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0002193, GO:0001669, GO:0000139, receptor complex, receptor complex, apical plasma membrane, integral component of membrane, cell surface, adherens junction, plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, nucleoplasm, nucleus, nucleus, extracellular region, MAML1-RBP-Jkappa- ICN1 complex, acrosomal vesicle, Golgi membrane, GO:0042802, GO:0031490, GO:0019899, GO:0005515, GO:0005509, GO:0005112, GO:0004888, GO:0004857, GO:0003713, identical protein binding, chromatin DNA binding, enzyme binding, protein binding, calcium ion binding, Notch binding, transmembrane signaling receptor activity, enzyme inhibitor activity, transcription coactivator activity, GO:2001027, GO:2000974, GO:2000811, GO:2000737, GO:2000048, GO:1903849, GO:1902339, GO:1902263, GO:1901201, GO:0120163, GO:0097150, GO:0090090, GO:0090051, GO:0072144, GO:0072044, GO:0072017, GO:0071372, GO:0070986, GO:0070374, GO:0070168, GO:0062043, GO:0061419, GO:0061384, GO:0061314, GO:0060982, GO:0060979, GO:0060956, GO:0060948, GO:0060843, GO:0060842, GO:0060768, GO:0060740, GO:0060528, GO:0060412, GO:0060411, GO:0060354, GO:0060317, GO:0060271, GO:0060253, GO:0060045, GO:0060038, GO:0055008, GO:0050768, GO:0050679, GO:0048873, GO:0048754, GO:0048715, GO:0048711, GO:0048709, GO:0048708, GO:0048103, GO:0046579, GO:0046533, GO:0046427, GO:0045967, GO:0045955, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045747, GO:0045668, GO:0045662, GO:0045618, GO:0045608, GO:0045603, GO:0045070, GO:0043086, GO:0042246, GO:0035924, GO:0035914, GO:0035148, GO:0035116, GO:0032633, GO:0032496, GO:0032495, GO:0031960, GO:0031100, GO:0031069, GO:0030900, GO:0030514, GO:0030513, GO:0030335, GO:0030324, GO:0030279, GO:0030216, GO:0021915, GO:0021515, GO:0014807, GO:0014031, GO:0010832, GO:0010812, GO:0010629, GO:0010628, GO:0010614, GO:0009912, GO:0008285, GO:0008284, GO:0008284, GO:0007507, GO:0007492, GO:0007440, GO:0007411, GO:0007386, GO:0007368, GO:0007283, GO:0007221, GO:0007221, GO:0007219, GO:0007219, GO:0007219, GO:0007219, GO:0007050, GO:0006959, GO:0006955, GO:0006367, GO:0006355, GO:0003344, GO:0003332, GO:0003273, GO:0003270, GO:0003256, GO:0003252, GO:0003241, GO:0003222, GO:0003219, GO:0003214, GO:0003213, GO:0003209, GO:0003208, GO:0003207, GO:0003203, GO:0003198, GO:0003192, GO:0003184, GO:0003184, GO:0003182, GO:0003181, GO:0003180, GO:0003180, GO:0003180, GO:0003169, GO:0003162, GO:0003160, GO:0003157, GO:0003151, GO:0002437, GO:0002052, GO:0002040, GO:0001947, GO:0001889, GO:0001837, GO:0001837, GO:0001708, GO:0001701, GO:0000122, GO:0000122, negative regulation of endothelial cell chemotaxis, negative regulation of pro-B cell differentiation, negative regulation of anoikis, negative regulation of stem cell differentiation, negative regulation of cell-cell adhesion mediated by cadherin, positive regulation of aorta morphogenesis, positive regulation of apoptotic process involved in morphogenesis, apoptotic process involved in embryonic digit morphogenesis, regulation of extracellular matrix assembly, negative regulation of cold-induced thermogenesis, neuronal stem cell population maintenance, negative regulation of canonical Wnt signaling pathway, negative regulation of cell migration involved in sprouting angiogenesis, glomerular mesangial cell development, collecting duct development, distal tubule development, cellular response to follicle-stimulating hormone stimulus, left/right axis specification, positive regulation of ERK1 and ERK2 cascade, negative regulation of biomineral tissue development, positive regulation of cardiac epithelial to mesenchymal transition, positive regulation of transcription from RNA polymerase II promoter in response to hypoxia, heart trabecula morphogenesis, Notch signaling involved in heart development, coronary artery morphogenesis, vasculogenesis involved in coronary vascular morphogenesis, endocardial cell differentiation, cardiac vascular smooth muscle cell development, venous endothelial cell differentiation, arterial endothelial cell differentiation, regulation of epithelial cell proliferation involved in prostate gland development, prostate gland epithelium morphogenesis, secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development, ventricular septum morphogenesis, cardiac septum morphogenesis, negative regulation of cell adhesion molecule production, cardiac epithelial to mesenchymal transition, cilium assembly, negative regulation of glial cell proliferation, positive regulation of cardiac muscle cell proliferation, cardiac muscle cell proliferation, cardiac muscle tissue morphogenesis, negative regulation of neurogenesis, positive regulation of epithelial cell proliferation, homeostasis of number of cells within a tissue, branching morphogenesis of an epithelial tube, negative regulation of oligodendrocyte differentiation, positive regulation of astrocyte differentiation, oligodendrocyte differentiation, astrocyte differentiation, somatic stem cell division, positive regulation of Ras protein signal transduction, negative regulation of photoreceptor cell differentiation, positive regulation of receptor signaling pathway via JAK-STAT, negative regulation of growth rate, negative regulation of calcium ion-dependent exocytosis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, negative regulation of osteoblast differentiation, negative regulation of myoblast differentiation, positive regulation of keratinocyte differentiation, negative regulation of inner ear auditory receptor cell differentiation, positive regulation of endothelial cell differentiation, positive regulation of viral genome replication, negative regulation of catalytic activity, tissue regeneration, cellular response to vascular endothelial growth factor stimulus, skeletal muscle cell differentiation, tube formation, embryonic hindlimb morphogenesis, interleukin-4 production, response to lipopolysaccharide, response to muramyl dipeptide, response to corticosteroid, animal organ regeneration, hair follicle morphogenesis, forebrain development, negative regulation of BMP signaling pathway, positive regulation of BMP signaling pathway, positive regulation of cell migration, lung development, negative regulation of ossification, keratinocyte differentiation, neural tube development, cell differentiation in spinal cord, regulation of somitogenesis, mesenchymal cell development, negative regulation of myotube differentiation, negative regulation of cell-substrate adhesion, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cardiac muscle hypertrophy, auditory receptor cell fate commitment, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, heart development, endoderm development, foregut morphogenesis, axon guidance, compartment pattern specification, determination of left/right symmetry, spermatogenesis, positive regulation of transcription of Notch receptor target, positive regulation of transcription of Notch receptor target, Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, cell cycle arrest, humoral immune response, immune response, transcription initiation from RNA polymerase II promoter, regulation of transcription, DNA-templated, pericardium morphogenesis, negative regulation of extracellular matrix constituent secretion, cell migration involved in endocardial cushion formation, Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation, regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation, negative regulation of cell proliferation involved in heart valve morphogenesis, growth involved in heart morphogenesis, ventricular trabecula myocardium morphogenesis, cardiac right ventricle formation, cardiac left ventricle morphogenesis, cardiac right atrium morphogenesis, cardiac atrium morphogenesis, cardiac ventricle morphogenesis, cardiac chamber formation, endocardial cushion morphogenesis, epithelial to mesenchymal transition involved in endocardial cushion formation, mitral valve formation, pulmonary valve morphogenesis, pulmonary valve morphogenesis, coronary sinus valve morphogenesis, atrioventricular valve morphogenesis, aortic valve morphogenesis, aortic valve morphogenesis, aortic valve morphogenesis, coronary vein morphogenesis, atrioventricular node development, endocardium morphogenesis, endocardium development, outflow tract morphogenesis, inflammatory response to antigenic stimulus, positive regulation of neuroblast proliferation, sprouting angiogenesis, heart looping, liver development, epithelial to mesenchymal transition, epithelial to mesenchymal transition, cell fate specification, in utero embryonic development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 8885 10624 10403 6549 9381 8284 7584 6939 7381 ENSG00000148408 chr9 137877789 138124624 + CACNA1B protein_coding The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 774 GO:0098793, GO:0043025, GO:0030425, GO:0005891, GO:0005886, presynapse, neuronal cell body, dendrite, voltage-gated calcium channel complex, plasma membrane, GO:0008331, GO:0008022, GO:0005524, GO:0005515, GO:0005509, GO:0005245, GO:0001540, high voltage-gated calcium channel activity, protein C-terminus binding, ATP binding, protein binding, calcium ion binding, voltage-gated calcium channel activity, amyloid-beta binding, GO:1904645, GO:0070588, GO:0070509, GO:0051924, GO:0051899, GO:0050804, GO:0048265, GO:0034765, GO:0008217, GO:0008016, GO:0007626, GO:0007269, GO:0007268, GO:0006816, response to amyloid-beta, calcium ion transmembrane transport, calcium ion import, regulation of calcium ion transport, membrane depolarization, modulation of chemical synaptic transmission, response to pain, regulation of ion transmembrane transport, regulation of blood pressure, regulation of heart contraction, locomotory behavior, neurotransmitter secretion, chemical synaptic transmission, calcium ion transport, 0 0 0 1 0 0 0 0 0 ENSG00000148411 chr9 136006537 136095285 - NACC2 protein_coding 138151 GO:0005739, GO:0005730, GO:0005634, GO:0005634, GO:0000785, GO:0000785, mitochondrion, nucleolus, nucleus, nucleus, chromatin, chromatin, GO:0044877, GO:0042826, GO:0042803, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, protein-containing complex binding, histone deacetylase binding, protein homodimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902231, GO:1900477, GO:1900477, GO:0051260, GO:0045892, GO:0045892, GO:0034629, GO:0008285, GO:0006357, GO:0000122, positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter, negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter, protein homooligomerization, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, cellular protein-containing complex localization, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1034 1047 806 802 1179 862 1000 869 732 ENSG00000148426 chr10 11823339 11872277 + PROSER2 protein_coding 254427 GO:0005515, protein binding, 0 0 0 3 0 0 0 4 4 ENSG00000148429 chr10 11453946 11611754 - USP6NL protein_coding 9712 GO:0032588, GO:0031410, GO:0031410, GO:0005886, GO:0005829, trans-Golgi network membrane, cytoplasmic vesicle, cytoplasmic vesicle, plasma membrane, cytosol, GO:0031267, GO:0031267, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, GTPase activator activity, GTPase activator activity, GO:1903358, GO:1902017, GO:0090630, GO:0048227, GO:0043547, GO:0035526, GO:0019068, GO:0007030, GO:0006886, regulation of Golgi organization, regulation of cilium assembly, activation of GTPase activity, plasma membrane to endosome transport, positive regulation of GTPase activity, retrograde transport, plasma membrane to Golgi, virion assembly, Golgi organization, intracellular protein transport, 116 116 166 90 134 165 93 111 168 ENSG00000148444 chr10 22315974 22320308 + COMMD3 protein_coding 23412 GO:1904813, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, nucleus, extracellular region, GO:0005515, protein binding, GO:0043312, GO:0006814, neutrophil degranulation, sodium ion transport, 13 14 40 13 5 37 17 7 12 ENSG00000148450 chr10 23095506 23122013 + MSRB2 protein_coding 22921 GO:0005829, GO:0005739, GO:0005737, cytosol, mitochondrion, cytoplasm, GO:0033745, GO:0033743, GO:0033743, GO:0008270, GO:0005515, GO:0003779, L-methionine-(R)-S-oxide reductase activity, peptide-methionine (R)-S-oxide reductase activity, peptide-methionine (R)-S-oxide reductase activity, zinc ion binding, protein binding, actin binding, GO:0055114, GO:0030091, GO:0030091, GO:0030041, GO:0006979, oxidation-reduction process, protein repair, protein repair, actin filament polymerization, response to oxidative stress, 231 160 253 101 201 154 108 137 170 ENSG00000148459 chr10 26697659 26746798 + PDSS1 protein_coding The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]. 23590 GO:1990234, GO:1990234, GO:0005759, transferase complex, transferase complex, mitochondrial matrix, GO:0097269, GO:0050347, GO:0046982, GO:0046872, GO:0005515, GO:0004659, GO:0000010, all-trans-decaprenyl-diphosphate synthase activity, trans-octaprenyltranstransferase activity, protein heterodimerization activity, metal ion binding, protein binding, prenyltransferase activity, trans-hexaprenyltranstransferase activity, GO:0008299, GO:0008299, GO:0006744, GO:0006744, GO:0006744, GO:0006744, isoprenoid biosynthetic process, isoprenoid biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, 10 11 19 18 13 10 8 9 10 ENSG00000148468 chr10 15211643 15371062 - FAM171A1 protein_coding 221061 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0043149, GO:0043149, GO:0008360, GO:0008360, stress fiber assembly, stress fiber assembly, regulation of cell shape, regulation of cell shape, 2 0 3 10 7 6 2 1 7 ENSG00000148481 chr10 15778170 15860520 - MINDY3 protein_coding The protein encoded by this gene contains a caspase-associated recruitment domain and may function in apoptosis. It has been identified as a tumor suppressor in lung and gastric cancers, and a polymorphism in the gene may be associated with gastric cancer risk. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 80013 GO:0031965, GO:0005654, nuclear membrane, nucleoplasm, GO:1990380, GO:1990380, GO:0008234, GO:0005515, GO:0004843, Lys48-specific deubiquitinase activity, Lys48-specific deubiquitinase activity, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0071108, GO:0006915, protein K48-linked deubiquitination, apoptotic process, 136 146 130 184 212 161 167 134 169 ENSG00000148482 chr10 17951839 18043292 + SLC39A12 protein_coding Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]. 221074 GO:1903561, GO:0048471, GO:0005887, extracellular vesicle, perinuclear region of cytoplasm, integral component of plasma membrane, GO:0005385, zinc ion transmembrane transporter activity, GO:1903672, GO:0071578, GO:0036293, GO:0031113, GO:0010975, GO:0007165, GO:0006882, positive regulation of sprouting angiogenesis, zinc ion import across plasma membrane, response to decreased oxygen levels, regulation of microtubule polymerization, regulation of neuron projection development, signal transduction, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000148483 chr10 17752252 17800868 + TMEM236 protein_coding 653567 GO:0016021, integral component of membrane, GO:0005515, protein binding, 5 11 1 4 16 0 5 12 4 ENSG00000148484 chr10 16590611 16817528 - RSU1 protein_coding This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008]. 6251 GO:0070062, GO:0005925, GO:0005829, extracellular exosome, focal adhesion, cytosol, GO:0005515, protein binding, GO:0043547, GO:0010811, GO:0010810, GO:0007165, positive regulation of GTPase activity, positive regulation of cell-substrate adhesion, regulation of cell-substrate adhesion, signal transduction, 239 215 270 185 226 272 165 180 170 ENSG00000148488 chr10 17318383 17454330 - ST8SIA6 protein_coding This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 338596 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008373, GO:0003828, sialyltransferase activity, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, GO:0097503, GO:0016051, GO:0009311, GO:0009311, GO:0009247, GO:0009100, GO:0006493, GO:0006491, GO:0006486, GO:0001835, GO:0001574, sialylation, carbohydrate biosynthetic process, oligosaccharide metabolic process, oligosaccharide metabolic process, glycolipid biosynthetic process, glycoprotein metabolic process, protein O-linked glycosylation, N-glycan processing, protein glycosylation, blastocyst hatching, ganglioside biosynthetic process, 1 0 4 14 5 5 0 6 16 ENSG00000148498 chr10 34109560 34815325 - PARD3 protein_coding This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]. 56288 GO:0043296, GO:0036464, GO:0033269, GO:0030054, GO:0030054, GO:0016324, GO:0012505, GO:0005938, GO:0005923, GO:0005923, GO:0005912, GO:0005911, GO:0005911, GO:0005886, GO:0005856, GO:0005829, apical junction complex, cytoplasmic ribonucleoprotein granule, internode region of axon, cell junction, cell junction, apical plasma membrane, endomembrane system, cell cortex, bicellular tight junction, bicellular tight junction, adherens junction, cell-cell junction, cell-cell junction, plasma membrane, cytoskeleton, cytosol, GO:0035091, GO:0032266, GO:0005547, GO:0005546, GO:0005515, phosphatidylinositol binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0090162, GO:0070830, GO:0070830, GO:0065003, GO:0051660, GO:0045197, GO:0031643, GO:0030010, GO:0022011, GO:0010801, GO:0008356, GO:0008104, GO:0007409, GO:0007205, GO:0007179, GO:0007163, GO:0007155, GO:0007049, GO:0006612, GO:0000226, establishment of epithelial cell polarity, bicellular tight junction assembly, bicellular tight junction assembly, protein-containing complex assembly, establishment of centrosome localization, establishment or maintenance of epithelial cell apical/basal polarity, positive regulation of myelination, establishment of cell polarity, myelination in peripheral nervous system, negative regulation of peptidyl-threonine phosphorylation, asymmetric cell division, protein localization, axonogenesis, protein kinase C-activating G protein-coupled receptor signaling pathway, transforming growth factor beta receptor signaling pathway, establishment or maintenance of cell polarity, cell adhesion, cell cycle, protein targeting to membrane, microtubule cytoskeleton organization, 1 0 0 0 0 0 0 2 0 ENSG00000148513 chr10 37125788 37384111 + ANKRD30A protein_coding This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]. 91074 0 0 0 0 0 0 0 0 0 ENSG00000148516 chr10 31318495 31529814 + ZEB1 protein_coding This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]. 6935 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0070888, GO:0008270, GO:0005515, GO:0003700, GO:0003682, GO:0001227, GO:0000981, GO:0000981, GO:0000978, E-box binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090103, GO:0071230, GO:0051216, GO:0051150, GO:0048856, GO:0048752, GO:0048704, GO:0048596, GO:0045944, GO:0045892, GO:0045892, GO:0045666, GO:0045602, GO:0033081, GO:0019221, GO:0017015, GO:0010464, GO:0008285, GO:0007417, GO:0007389, GO:0006357, GO:0006357, GO:0000122, cochlea morphogenesis, cellular response to amino acid stimulus, cartilage development, regulation of smooth muscle cell differentiation, anatomical structure development, semicircular canal morphogenesis, embryonic skeletal system morphogenesis, embryonic camera-type eye morphogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of neuron differentiation, negative regulation of endothelial cell differentiation, regulation of T cell differentiation in thymus, cytokine-mediated signaling pathway, regulation of transforming growth factor beta receptor signaling pathway, regulation of mesenchymal cell proliferation, negative regulation of cell population proliferation, central nervous system development, pattern specification process, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 845 748 959 599 630 733 631 485 622 ENSG00000148541 chr10 59246129 59363181 - FAM13C protein_coding 220965 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000148572 chr10 63133247 63155031 + NRBF2 protein_coding 29982 GO:0035032, GO:0035032, GO:0031410, GO:0005776, GO:0005737, GO:0005654, phosphatidylinositol 3-kinase complex, class III, phosphatidylinositol 3-kinase complex, class III, cytoplasmic vesicle, autophagosome, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0043550, GO:0034976, GO:0006914, GO:0006914, GO:0006367, regulation of lipid kinase activity, response to endoplasmic reticulum stress, autophagy, autophagy, transcription initiation from RNA polymerase II promoter, 4191 2855 5002 1013 1406 1659 1303 1252 1451 ENSG00000148584 chr10 50799409 50885675 - A1CF protein_coding Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 29974 GO:0030895, GO:0005783, GO:0005737, GO:0005654, GO:0005654, GO:0005634, apolipoprotein B mRNA editing enzyme complex, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003729, GO:0003727, GO:0003725, GO:0003723, protein binding, mRNA binding, single-stranded RNA binding, double-stranded RNA binding, RNA binding, GO:0050821, GO:0016556, GO:0016554, GO:0006397, protein stabilization, mRNA modification, cytidine to uridine editing, mRNA processing, 0 0 0 1 0 0 0 0 0 ENSG00000148600 chr10 84194635 84219621 + CDHR1 protein_coding This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]. 92211 GO:0042622, GO:0005887, GO:0005575, photoreceptor outer segment membrane, integral component of plasma membrane, cellular_component, GO:0005509, GO:0003674, calcium ion binding, molecular_function, GO:0045494, GO:0035845, GO:0008594, GO:0007156, GO:0007155, photoreceptor cell maintenance, photoreceptor cell outer segment organization, photoreceptor cell morphogenesis, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 9 5 2 19 3 5 8 ENSG00000148602 chr10 84231593 84241461 - LRIT1 protein_coding 26103 GO:0030176, GO:0030176, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000148604 chr10 84245053 84259960 + RGR protein_coding This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 5995 GO:0005887, GO:0001750, integral component of plasma membrane, photoreceptor outer segment, GO:0008020, GO:0005515, GO:0004930, G protein-coupled photoreceptor activity, protein binding, G protein-coupled receptor activity, GO:0071482, GO:0018298, GO:0009584, GO:0007602, GO:0007601, GO:0007186, cellular response to light stimulus, protein-chromophore linkage, detection of visible light, phototransduction, visual perception, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000148606 chr10 77969251 78029545 - POLR3A protein_coding The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]. 11128 GO:0016020, GO:0005829, GO:0005666, GO:0005666, GO:0005654, GO:0005654, membrane, cytosol, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, nucleoplasm, GO:0046872, GO:0003899, GO:0003899, GO:0003682, GO:0003677, metal ion binding, DNA-directed 5'-3' RNA polymerase activity, DNA-directed 5'-3' RNA polymerase activity, chromatin binding, DNA binding, GO:0051607, GO:0045087, GO:0032728, GO:0032481, GO:0006351, defense response to virus, innate immune response, positive regulation of interferon-beta production, positive regulation of type I interferon production, transcription, DNA-templated, 32 52 54 79 40 92 49 41 49 ENSG00000148634 chr10 67921899 68075348 - HERC4 protein_coding HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]. 26091 GO:0005829, GO:0001650, cytosol, fibrillar center, GO:0004842, ubiquitin-protein transferase activity, GO:0045879, GO:0030154, GO:0016567, GO:0007283, negative regulation of smoothened signaling pathway, cell differentiation, protein ubiquitination, spermatogenesis, 645 584 628 584 751 813 768 629 684 ENSG00000148655 chr10 75431453 76560167 + LRMDA protein_coding This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]. 83938 GO:0030318, GO:0030318, melanocyte differentiation, melanocyte differentiation, 0 2 1 1 3 1 4 0 0 ENSG00000148660 chr10 73812501 73874591 - CAMK2G protein_coding The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]. 818 GO:0043005, GO:0033017, GO:0030666, GO:0016020, GO:0005954, GO:0005829, GO:0005737, GO:0005654, neuron projection, sarcoplasmic reticulum membrane, endocytic vesicle membrane, membrane, calcium- and calmodulin-dependent protein kinase complex, cytosol, cytoplasm, nucleoplasm, GO:0042803, GO:0042802, GO:0005524, GO:0005516, GO:0005516, GO:0005515, GO:0004723, GO:0004683, protein homodimerization activity, identical protein binding, ATP binding, calmodulin binding, calmodulin binding, protein binding, calcium-dependent protein serine/threonine phosphatase activity, calmodulin-dependent protein kinase activity, GO:1900034, GO:0060333, GO:0051924, GO:0030073, GO:0014733, GO:0010975, GO:0006470, GO:0006468, regulation of cellular response to heat, interferon-gamma-mediated signaling pathway, regulation of calcium ion transport, insulin secretion, regulation of skeletal muscle adaptation, regulation of neuron projection development, protein dephosphorylation, protein phosphorylation, 2237 2551 2665 1947 2970 2634 2235 2137 2232 ENSG00000148671 chr10 86968192 86983934 + ADIRF protein_coding APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008]. 10974 GO:0070062, GO:0005829, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, cytosol, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:2001023, GO:0072719, GO:0071478, GO:0045944, GO:0045600, GO:0045600, GO:0030154, regulation of response to drug, cellular response to cisplatin, cellular response to radiation, positive regulation of transcription by RNA polymerase II, positive regulation of fat cell differentiation, positive regulation of fat cell differentiation, cell differentiation, 1 0 0 1 2 1 1 1 0 ENSG00000148672 chr10 87050486 87094866 - GLUD1 protein_coding This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]. 2746 GO:0005783, GO:0005759, GO:0005739, GO:0005739, GO:0005737, endoplasmic reticulum, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0070728, GO:0070403, GO:0043531, GO:0042802, GO:0005525, GO:0005524, GO:0005515, GO:0004353, GO:0004352, GO:0004352, leucine binding, NAD+ binding, ADP binding, identical protein binding, GTP binding, ATP binding, protein binding, glutamate dehydrogenase [NAD(P)+] activity, glutamate dehydrogenase (NAD+) activity, glutamate dehydrogenase (NAD+) activity, GO:0072350, GO:0055114, GO:0032024, GO:0021762, GO:0008652, GO:0006541, GO:0006538, GO:0006538, GO:0006537, tricarboxylic acid metabolic process, oxidation-reduction process, positive regulation of insulin secretion, substantia nigra development, cellular amino acid biosynthetic process, glutamine metabolic process, glutamate catabolic process, glutamate catabolic process, glutamate biosynthetic process, 233 205 331 293 192 338 206 151 223 ENSG00000148677 chr10 90912096 90921276 - ANKRD1 protein_coding The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]. 27063 GO:0031674, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, I band, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0070412, GO:0061629, GO:0042826, GO:0031432, GO:0005515, GO:0003714, GO:0003713, GO:0003677, GO:0002039, GO:0001085, R-SMAD binding, RNA polymerase II-specific DNA-binding transcription factor binding, histone deacetylase binding, titin binding, protein binding, transcription corepressor activity, transcription coactivator activity, DNA binding, p53 binding, RNA polymerase II transcription factor binding, GO:2000279, GO:1903508, GO:0071560, GO:0071456, GO:0071407, GO:0071356, GO:0071347, GO:0071260, GO:0071222, GO:0070528, GO:0055008, GO:0050714, GO:0045214, GO:0043517, GO:0043065, GO:0035994, GO:0035914, GO:0035690, GO:0019216, GO:0010976, GO:0006357, GO:0000122, negative regulation of DNA biosynthetic process, positive regulation of nucleic acid-templated transcription, cellular response to transforming growth factor beta stimulus, cellular response to hypoxia, cellular response to organic cyclic compound, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to mechanical stimulus, cellular response to lipopolysaccharide, protein kinase C signaling, cardiac muscle tissue morphogenesis, positive regulation of protein secretion, sarcomere organization, positive regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of apoptotic process, response to muscle stretch, skeletal muscle cell differentiation, cellular response to drug, regulation of lipid metabolic process, positive regulation of neuron projection development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000148680 chr10 90740823 90857698 - HTR7 protein_coding The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008]. 3363 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0005515, GO:0004993, neurotransmitter receptor activity, protein binding, G protein-coupled serotonin receptor activity, GO:0098664, GO:0042310, GO:0008015, GO:0007623, GO:0007268, GO:0007187, GO:0007186, GO:0006939, G protein-coupled serotonin receptor signaling pathway, vasoconstriction, blood circulation, circadian rhythm, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, smooth muscle contraction, 0 0 0 0 0 0 0 2 0 ENSG00000148688 chr10 90871716 90908553 + RPP30 protein_coding 10556 GO:0030681, GO:0005655, GO:0005654, GO:0005634, GO:0000172, multimeric ribonuclease P complex, nucleolar ribonuclease P complex, nucleoplasm, nucleus, ribonuclease MRP complex, GO:0033204, GO:0005515, GO:0004526, GO:0004526, GO:0003723, GO:0003723, ribonuclease P RNA binding, protein binding, ribonuclease P activity, ribonuclease P activity, RNA binding, RNA binding, GO:0090502, GO:0008033, GO:0006364, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, tRNA processing, rRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, 12 20 21 29 18 54 23 12 21 ENSG00000148690 chr10 93667883 93702572 - FRA10AC1 protein_coding The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]. 118924 GO:0005634, nucleus, GO:0016791, GO:0005515, phosphatase activity, protein binding, GO:0016311, dephosphorylation, 49 51 52 105 80 109 93 49 120 ENSG00000148700 chr10 109996368 110135565 + ADD3 protein_coding Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]. 120 GO:0044853, GO:0016020, GO:0014069, GO:0005938, GO:0005911, GO:0005903, GO:0005886, GO:0005856, GO:0005829, GO:0000794, plasma membrane raft, membrane, postsynaptic density, cell cortex, cell-cell junction, brush border, plasma membrane, cytoskeleton, cytosol, condensed nuclear chromosome, GO:0051015, GO:0030507, GO:0005516, GO:0005200, GO:0005198, actin filament binding, spectrin binding, calmodulin binding, structural constituent of cytoskeleton, structural molecule activity, GO:0055085, GO:0051017, GO:0051016, transmembrane transport, actin filament bundle assembly, barbed-end actin filament capping, 1749 1529 2920 1375 1362 1939 1352 1040 1731 ENSG00000148702 chr10 113550837 113589602 + HABP2 protein_coding This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 3026 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008233, GO:0005539, GO:0005509, GO:0004252, peptidase activity, glycosaminoglycan binding, calcium ion binding, serine-type endopeptidase activity, GO:0007155, GO:0006508, GO:0006508, cell adhesion, proteolysis, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000148704 chr10 117128521 117138301 - VAX1 protein_coding This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 11023 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0031490, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, chromatin DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060021, GO:0043010, GO:0035914, GO:0030182, GO:0007420, GO:0007417, GO:0007411, GO:0007406, GO:0006357, GO:0001764, GO:0000122, roof of mouth development, camera-type eye development, skeletal muscle cell differentiation, neuron differentiation, brain development, central nervous system development, axon guidance, negative regulation of neuroblast proliferation, regulation of transcription by RNA polymerase II, neuron migration, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000148719 chr10 72332830 72355230 - DNAJB12 protein_coding DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]. 54788 GO:0031965, GO:0030176, GO:0016020, GO:0005789, GO:0005783, nuclear membrane, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0030544, GO:0030544, Hsp70 protein binding, Hsp70 protein binding, GO:0071218, GO:0071218, GO:0051085, GO:0051085, GO:0036503, GO:0034622, GO:0030433, GO:0016032, cellular response to misfolded protein, cellular response to misfolded protein, chaperone cofactor-dependent protein refolding, chaperone cofactor-dependent protein refolding, ERAD pathway, cellular protein-containing complex assembly, ubiquitin-dependent ERAD pathway, viral process, 896 914 1059 534 926 769 683 713 543 ENSG00000148730 chr10 70404379 70428618 + EIF4EBP2 protein_coding This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 2008]. 1979 GO:0098794, GO:0005737, postsynapse, cytoplasm, GO:0030371, GO:0008190, GO:0008190, GO:0005515, translation repressor activity, eukaryotic initiation factor 4E binding, eukaryotic initiation factor 4E binding, protein binding, GO:0050804, GO:0048167, GO:0045947, GO:0045947, GO:0035176, GO:0031929, GO:0019933, GO:0008286, GO:0007613, GO:0006412, modulation of chemical synaptic transmission, regulation of synaptic plasticity, negative regulation of translational initiation, negative regulation of translational initiation, social behavior, TOR signaling, cAMP-mediated signaling, insulin receptor signaling pathway, memory, translation, 2489 2697 3084 825 1721 1347 1112 1433 1323 ENSG00000148734 chr10 70247329 70283676 - NPFFR1 protein_coding 64106 GO:0005929, GO:0005887, GO:0005886, cilium, integral component of plasma membrane, plasma membrane, GO:0042277, GO:0008188, GO:0005515, GO:0004930, GO:0004930, peptide binding, neuropeptide receptor activity, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0008150, GO:0007218, GO:0007186, GO:0007186, biological_process, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 1 2 0 0 1 0 ENSG00000148735 chr10 113751454 113783429 + PLEKHS1 protein_coding 79949 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000148737 chr10 112950250 113167678 + TCF7L2 protein_coding This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]. 6934 GO:1990907, GO:0071664, GO:0070369, GO:0032993, GO:0016605, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, beta-catenin-TCF complex, catenin-TCF7L2 complex, beta-catenin-TCF7L2 complex, protein-DNA complex, PML body, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0070016, GO:0045295, GO:0043565, GO:0043565, GO:0035257, GO:0019901, GO:0008134, GO:0008013, GO:0008013, GO:0005515, GO:0003700, GO:0001103, GO:0000981, GO:0000978, GO:0000978, GO:0000976, armadillo repeat domain binding, gamma-catenin binding, sequence-specific DNA binding, sequence-specific DNA binding, nuclear hormone receptor binding, protein kinase binding, transcription factor binding, beta-catenin binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II repressing transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001237, GO:2000675, GO:1904837, GO:0090090, GO:0060070, GO:0060070, GO:0051897, GO:0050679, GO:0048660, GO:0048625, GO:0046827, GO:0045944, GO:0045892, GO:0045892, GO:0045444, GO:0044334, GO:0043570, GO:0043433, GO:0042593, GO:0032350, GO:0032092, GO:0032024, GO:0031016, GO:0010909, GO:0009749, GO:0007223, GO:0007050, GO:0006357, GO:0006357, GO:0001568, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of type B pancreatic cell apoptotic process, beta-catenin-TCF complex assembly, negative regulation of canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of protein kinase B signaling, positive regulation of epithelial cell proliferation, regulation of smooth muscle cell proliferation, myoblast fate commitment, positive regulation of protein export from nucleus, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, fat cell differentiation, canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition, maintenance of DNA repeat elements, negative regulation of DNA-binding transcription factor activity, glucose homeostasis, regulation of hormone metabolic process, positive regulation of protein binding, positive regulation of insulin secretion, pancreas development, positive regulation of heparan sulfate proteoglycan biosynthetic process, response to glucose, Wnt signaling pathway, calcium modulating pathway, cell cycle arrest, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, blood vessel development, negative regulation of transcription by RNA polymerase II, 390 373 444 236 329 376 265 279 337 ENSG00000148773 chr10 128096659 128126385 - MKI67 protein_coding This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009]. 4288 GO:0016604, GO:0016020, GO:0005730, GO:0005654, GO:0005634, GO:0000793, nuclear body, membrane, nucleolus, nucleoplasm, nucleus, condensed chromosome, GO:0008022, GO:0005524, GO:0005515, GO:0003723, GO:0003677, protein C-terminus binding, ATP binding, protein binding, RNA binding, DNA binding, GO:1902275, GO:0051983, GO:0008283, GO:0007088, GO:0007049, regulation of chromatin organization, regulation of chromosome segregation, cell population proliferation, regulation of mitotic nuclear division, cell cycle, 10 9 24 32 9 27 27 9 19 ENSG00000148795 chr10 102830531 102837533 - CYP17A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]. 1586 GO:0043025, GO:0030424, GO:0005789, GO:0005783, neuronal cell body, axon, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0047442, GO:0047442, GO:0020037, GO:0019825, GO:0005506, GO:0004508, GO:0004508, GO:0004508, GO:0004508, 17-alpha-hydroxyprogesterone aldolase activity, 17-alpha-hydroxyprogesterone aldolase activity, heme binding, oxygen binding, iron ion binding, steroid 17-alpha-monooxygenase activity, steroid 17-alpha-monooxygenase activity, steroid 17-alpha-monooxygenase activity, steroid 17-alpha-monooxygenase activity, GO:0055114, GO:0042448, GO:0042448, GO:0042446, GO:0042446, GO:0008202, GO:0007548, GO:0006704, GO:0006704, GO:0006702, GO:0006694, oxidation-reduction process, progesterone metabolic process, progesterone metabolic process, hormone biosynthetic process, hormone biosynthetic process, steroid metabolic process, sex differentiation, glucocorticoid biosynthetic process, glucocorticoid biosynthetic process, androgen biosynthetic process, steroid biosynthetic process, 10 17 16 16 19 32 10 10 22 ENSG00000148798 chr10 103277163 103290351 + INA protein_coding Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]. 9118 GO:0098794, GO:0098685, GO:0045111, GO:0036464, GO:0005883, GO:0005615, postsynapse, Schaffer collateral - CA1 synapse, intermediate filament cytoskeleton, cytoplasmic ribonucleoprotein granule, neurofilament, extracellular space, GO:0099184, GO:0098973, GO:0005515, GO:0005200, structural constituent of postsynaptic intermediate filament cytoskeleton, structural constituent of postsynaptic actin cytoskeleton, protein binding, structural constituent of cytoskeleton, GO:1990830, GO:0099185, GO:0098974, GO:0060052, GO:0030154, GO:0021762, cellular response to leukemia inhibitory factor, postsynaptic intermediate filament cytoskeleton organization, postsynaptic actin cytoskeleton organization, neurofilament cytoskeleton organization, cell differentiation, substantia nigra development, 0 0 0 0 0 0 3 0 0 ENSG00000148803 chr10 133355154 133358035 - FUOM protein_coding 282969 GO:0005829, cytosol, GO:0042806, GO:0042806, GO:0036373, GO:0016857, GO:0016857, fucose binding, fucose binding, L-fucose mutarotase activity, racemase and epimerase activity, acting on carbohydrates and derivatives, racemase and epimerase activity, acting on carbohydrates and derivatives, GO:0060180, GO:0045665, GO:0036065, GO:0006004, GO:0006004, GO:0006004, female mating behavior, negative regulation of neuron differentiation, fucosylation, fucose metabolic process, fucose metabolic process, fucose metabolic process, 2 6 8 2 2 9 0 3 14 ENSG00000148814 chr10 132332154 132379918 + LRRC27 protein_coding 80313 4 6 8 11 6 9 11 5 6 ENSG00000148824 chr10 133394094 133421307 + MTG1 protein_coding 92170 GO:0005761, GO:0005759, GO:0005743, GO:0005739, mitochondrial ribosome, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0070129, GO:0044065, regulation of mitochondrial translation, regulation of respiratory system process, 3 10 4 14 2 11 12 4 6 ENSG00000148826 chr10 132783179 132786052 - NKX6-2 protein_coding 84504 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050885, GO:0045892, GO:0045687, GO:0045686, GO:0031641, GO:0031018, GO:0030154, GO:0022010, GO:0010455, GO:0010454, GO:0006357, GO:0006355, GO:0000122, neuromuscular process controlling balance, negative regulation of transcription, DNA-templated, positive regulation of glial cell differentiation, negative regulation of glial cell differentiation, regulation of myelination, endocrine pancreas development, cell differentiation, central nervous system myelination, positive regulation of cell fate commitment, negative regulation of cell fate commitment, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 29 33 36 30 43 32 34 31 46 ENSG00000148832 chr10 133379234 133391694 + PAOX protein_coding 196743 GO:0005829, GO:0005782, cytosol, peroxisomal matrix, GO:0052904, GO:0052903, GO:0052902, GO:0052901, GO:0052899, GO:0046592, GO:0046592, GO:0016491, N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity, N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity, spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity, spermine:oxygen oxidoreductase (spermidine-forming) activity, N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity, polyamine oxidase activity, polyamine oxidase activity, oxidoreductase activity, GO:1901307, GO:0055114, GO:0046208, GO:0046203, GO:0009447, GO:0009446, GO:0006625, GO:0006596, positive regulation of spermidine biosynthetic process, oxidation-reduction process, spermine catabolic process, spermidine catabolic process, putrescine catabolic process, putrescine biosynthetic process, protein targeting to peroxisome, polyamine biosynthetic process, 0 0 1 8 7 2 5 2 3 ENSG00000148834 chr10 104235356 104267459 + GSTO1 protein_coding The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 9446 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005654, extracellular exosome, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0050610, GO:0045174, GO:0045174, GO:0016491, GO:0005515, GO:0004364, methylarsonate reductase activity, glutathione dehydrogenase (ascorbate) activity, glutathione dehydrogenase (ascorbate) activity, oxidoreductase activity, protein binding, glutathione transferase activity, GO:1901687, GO:0098869, GO:0071243, GO:0060316, GO:0060315, GO:0055114, GO:0042178, GO:0035722, GO:0032259, GO:0019852, GO:0014810, GO:0010881, GO:0010880, glutathione derivative biosynthetic process, cellular oxidant detoxification, cellular response to arsenic-containing substance, positive regulation of ryanodine-sensitive calcium-release channel activity, negative regulation of ryanodine-sensitive calcium-release channel activity, oxidation-reduction process, xenobiotic catabolic process, interleukin-12-mediated signaling pathway, methylation, L-ascorbic acid metabolic process, positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, 173 147 228 99 123 180 96 132 119 ENSG00000148835 chr10 103367967 103389065 + TAF5 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 6877 GO:0033276, GO:0015629, GO:0005730, GO:0005669, GO:0005669, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, transcription factor TFTC complex, actin cytoskeleton, nucleolus, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0042802, GO:0016251, GO:0016251, GO:0016251, GO:0005515, identical protein binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, GO:1903508, GO:1901796, GO:0043966, GO:0042795, GO:0016032, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0006355, GO:0006352, positive regulation of nucleic acid-templated transcription, regulation of signal transduction by p53 class mediator, histone H3 acetylation, snRNA transcription by RNA polymerase II, viral process, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription, DNA-templated, DNA-templated transcription, initiation, 24 26 41 37 26 21 24 23 40 ENSG00000148840 chr10 102132994 102150331 + PPRC1 protein_coding The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 23082 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0030374, GO:0008134, GO:0003723, nuclear receptor coactivator activity, transcription factor binding, RNA binding, GO:0051091, GO:0045944, GO:0007005, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, mitochondrion organization, 78 65 165 135 67 187 169 65 154 ENSG00000148841 chr10 104309698 104338448 - ITPRIP protein_coding This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 85450 GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005640, integral component of membrane, membrane, membrane, plasma membrane, nuclear outer membrane, GO:0005515, GO:0004860, protein binding, protein kinase inhibitor activity, GO:1902042, GO:0006469, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of protein kinase activity, 5374 4691 8728 1795 2858 3970 3007 3146 4187 ENSG00000148842 chr10 102918293 103090221 + CNNM2 protein_coding This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 54805 GO:0043231, GO:0043231, GO:0016323, GO:0016021, GO:0005886, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, basolateral plasma membrane, integral component of membrane, plasma membrane, GO:0022857, GO:0015095, GO:0005524, transmembrane transporter activity, magnesium ion transmembrane transporter activity, ATP binding, GO:1903830, GO:0010960, GO:0010960, GO:0006810, magnesium ion transmembrane transport, magnesium ion homeostasis, magnesium ion homeostasis, transport, 2239 2168 2471 1635 2467 2098 1675 1795 1835 ENSG00000148843 chr10 103396626 103446292 + PDCD11 protein_coding PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]. 22984 GO:0032040, GO:0005829, GO:0005730, GO:0005654, GO:0005634, small-subunit processome, cytosol, nucleolus, nucleoplasm, nucleus, GO:0008134, GO:0005515, GO:0003723, GO:0003723, transcription factor binding, protein binding, RNA binding, RNA binding, GO:0006397, GO:0006364, mRNA processing, rRNA processing, 44 38 70 96 45 108 82 41 116 ENSG00000148848 chr10 126012381 126388455 - ADAM12 protein_coding This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]. 8038 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005654, GO:0005576, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, nucleoplasm, extracellular region, GO:0046872, GO:0017124, GO:0008237, GO:0005515, GO:0004222, metal ion binding, SH3 domain binding, metallopeptidase activity, protein binding, metalloendopeptidase activity, GO:0045766, GO:0030198, GO:0007520, GO:0007155, GO:0006508, positive regulation of angiogenesis, extracellular matrix organization, myoblast fusion, cell adhesion, proteolysis, 8 4 15 15 7 6 15 6 5 ENSG00000148908 chr10 119499828 119542708 - RGS10 protein_coding Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6001 GO:0043679, GO:0043197, GO:0043025, GO:0005886, GO:0005829, GO:0005634, axon terminus, dendritic spine, neuronal cell body, plasma membrane, cytosol, nucleus, GO:0005515, GO:0005096, GO:0003924, GO:0001965, protein binding, GTPase activator activity, GTPase activity, G-protein alpha-subunit binding, GO:0043547, GO:0009968, GO:0008277, GO:0007213, GO:0007186, GO:0001975, positive regulation of GTPase activity, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, response to amphetamine, 26 36 53 88 64 111 86 61 74 ENSG00000148925 chr11 13388001 13463297 - BTBD10 protein_coding 84280 GO:0005737, GO:0005737, GO:0005654, GO:0001650, cytoplasm, cytoplasm, nucleoplasm, fibrillar center, GO:0005515, protein binding, GO:1901215, GO:0044342, GO:0042327, GO:0042327, negative regulation of neuron death, type B pancreatic cell proliferation, positive regulation of phosphorylation, positive regulation of phosphorylation, 409 296 311 213 319 267 319 276 274 ENSG00000148926 chr11 10304680 10307397 + ADM protein_coding The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]. 133 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0031700, GO:0005179, GO:0005102, adrenomedullin receptor binding, hormone activity, signaling receptor binding, GO:2001214, GO:2000184, GO:1990410, GO:0097647, GO:0097084, GO:0060670, GO:0051384, GO:0048589, GO:0046879, GO:0045906, GO:0045766, GO:0043116, GO:0043065, GO:0042594, GO:0042475, GO:0035809, GO:0032868, GO:0032496, GO:0031623, GO:0031102, GO:0031100, GO:0010460, GO:0009611, GO:0009409, GO:0008285, GO:0008284, GO:0008209, GO:0007568, GO:0007565, GO:0007507, GO:0007204, GO:0007189, GO:0007189, GO:0007186, GO:0007165, GO:0006954, GO:0003073, GO:0002031, GO:0002026, GO:0001843, GO:0001666, GO:0001570, positive regulation of vasculogenesis, positive regulation of progesterone biosynthetic process, adrenomedullin receptor signaling pathway, amylin receptor signaling pathway, vascular associated smooth muscle cell development, branching involved in labyrinthine layer morphogenesis, response to glucocorticoid, developmental growth, hormone secretion, negative regulation of vasoconstriction, positive regulation of angiogenesis, negative regulation of vascular permeability, positive regulation of apoptotic process, response to starvation, odontogenesis of dentin-containing tooth, regulation of urine volume, response to insulin, response to lipopolysaccharide, receptor internalization, neuron projection regeneration, animal organ regeneration, positive regulation of heart rate, response to wounding, response to cold, negative regulation of cell population proliferation, positive regulation of cell population proliferation, androgen metabolic process, aging, female pregnancy, heart development, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, regulation of systemic arterial blood pressure, G protein-coupled receptor internalization, regulation of the force of heart contraction, neural tube closure, response to hypoxia, vasculogenesis, 1087 756 3348 5784 6151 13556 5391 4931 11249 ENSG00000148935 chr11 22625509 22813055 + GAS2 protein_coding The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]. 2620 GO:0016020, GO:0005884, GO:0005874, GO:0005829, membrane, actin filament, microtubule, cytosol, GO:0051015, GO:0008093, GO:0008017, actin filament binding, cytoskeletal anchor activity, microtubule binding, GO:0071711, GO:0051764, GO:0030728, GO:0008593, GO:0008360, GO:0007050, GO:0006915, GO:0001547, GO:0001544, GO:0000226, basement membrane organization, actin crosslink formation, ovulation, regulation of Notch signaling pathway, regulation of cell shape, cell cycle arrest, apoptotic process, antral ovarian follicle growth, initiation of primordial ovarian follicle growth, microtubule cytoskeleton organization, 3 2 13 3 0 8 8 3 1 ENSG00000148942 chr11 26667019 26723427 - SLC5A12 protein_coding Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]. 159963 GO:0070062, GO:0016324, GO:0016021, GO:0005886, extracellular exosome, apical plasma membrane, integral component of membrane, plasma membrane, GO:0015293, GO:0015129, GO:0005343, symporter activity, lactate transmembrane transporter activity, organic acid:sodium symporter activity, GO:0035873, GO:0006814, GO:0006811, lactate transmembrane transport, sodium ion transport, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000148943 chr11 27494576 27506773 - LIN7C protein_coding 55327 GO:0098839, GO:0098793, GO:0097025, GO:0097025, GO:0045202, GO:0016323, GO:0005923, GO:0005911, GO:0005911, GO:0005886, GO:0005886, GO:0005737, postsynaptic density membrane, presynapse, MPP7-DLG1-LIN7 complex, MPP7-DLG1-LIN7 complex, synapse, basolateral plasma membrane, bicellular tight junction, cell-cell junction, cell-cell junction, plasma membrane, plasma membrane, cytoplasm, GO:0097016, GO:0097016, GO:0030165, GO:0019904, GO:0008092, GO:0005515, L27 domain binding, L27 domain binding, PDZ domain binding, protein domain specific binding, cytoskeletal protein binding, protein binding, GO:1903361, GO:0045199, GO:0015031, GO:0007269, GO:0007269, GO:0006887, GO:0002011, protein localization to basolateral plasma membrane, maintenance of epithelial cell apical/basal polarity, protein transport, neurotransmitter secretion, neurotransmitter secretion, exocytosis, morphogenesis of an epithelial sheet, 157 129 146 135 64 141 79 83 108 ENSG00000148948 chr11 40114203 41459773 - LRRC4C protein_coding NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]. 57689 GO:0098978, GO:0045211, GO:0016021, GO:0016020, GO:0005615, glutamatergic synapse, postsynaptic membrane, integral component of membrane, membrane, extracellular space, GO:0098632, GO:0050839, GO:0005515, cell-cell adhesion mediator activity, cell adhesion molecule binding, protein binding, GO:0099560, GO:0050804, GO:0050770, synaptic membrane adhesion, modulation of chemical synaptic transmission, regulation of axonogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000148950 chr11 31432401 31509645 - IMMP1L protein_coding The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]. 196294 GO:0042720, GO:0005739, mitochondrial inner membrane peptidase complex, mitochondrion, GO:0008236, GO:0003674, serine-type peptidase activity, molecular_function, GO:0008150, GO:0006627, biological_process, protein processing involved in protein targeting to mitochondrion, 7 3 7 16 4 18 13 6 10 ENSG00000148965 chr11 18231349 18236893 - SAA4 protein_coding 6291 GO:0070062, GO:0034364, GO:0005576, extracellular exosome, high-density lipoprotein particle, extracellular region, GO:0005515, protein binding, GO:0006953, acute-phase response, 0 0 0 0 0 0 0 0 0 ENSG00000148985 chr11 3797724 3826371 + PGAP2 protein_coding The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]. 27315 GO:0016021, GO:0005789, GO:0005789, GO:0000139, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, protein binding, GO:0006506, GO:0006506, GO:0006506, GPI anchor biosynthetic process, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 265 252 335 287 350 412 287 264 319 ENSG00000149016 chr11 62575045 62592177 - TUT1 protein_coding This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]. 64852 GO:0016607, GO:0005847, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, nuclear speck, mRNA cleavage and polyadenylation specificity factor complex, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0050265, GO:0046872, GO:0019899, GO:0017070, GO:0016779, GO:0005524, GO:0005515, GO:0004652, GO:0004652, GO:0003730, GO:0003723, RNA uridylyltransferase activity, metal ion binding, enzyme binding, U6 snRNA binding, nucleotidyltransferase activity, ATP binding, protein binding, polynucleotide adenylyltransferase activity, polynucleotide adenylyltransferase activity, mRNA 3'-UTR binding, RNA binding, GO:0098789, GO:0071044, GO:0034477, GO:0016180, GO:0006397, GO:0006378, GO:0006378, GO:0006378, pre-mRNA cleavage required for polyadenylation, histone mRNA catabolic process, U6 snRNA 3'-end processing, snRNA processing, mRNA processing, mRNA polyadenylation, mRNA polyadenylation, mRNA polyadenylation, 28 32 33 22 19 30 22 17 16 ENSG00000149021 chr11 62405103 62423195 + SCGB1A1 protein_coding This gene encodes a member of the secretoglobin family of small secreted proteins. The encoded protein has been implicated in numerous functions including anti-inflammation, inhibition of phospholipase A2 and the sequestering of hydrophobic ligands. Defects in this gene are associated with a susceptibility to asthma. [provided by RefSeq, May 2010]. 7356 GO:0070062, GO:0030141, GO:0005791, GO:0005737, GO:0005635, GO:0005615, GO:0005615, extracellular exosome, secretory granule, rough endoplasmic reticulum, cytoplasm, nuclear envelope, extracellular space, extracellular space, GO:0097160, GO:0019834, GO:0005515, polychlorinated biphenyl binding, phospholipase A2 inhibitor activity, protein binding, GO:0071774, GO:0051384, GO:0050727, GO:0043488, GO:0043086, GO:0042493, GO:0042130, GO:0034097, GO:0034021, GO:0032714, GO:0032713, GO:0032696, GO:0032689, GO:0032496, GO:0010193, GO:0009410, GO:0007566, GO:0007565, GO:0007165, GO:0000122, response to fibroblast growth factor, response to glucocorticoid, regulation of inflammatory response, regulation of mRNA stability, negative regulation of catalytic activity, response to drug, negative regulation of T cell proliferation, response to cytokine, response to silicon dioxide, negative regulation of interleukin-5 production, negative regulation of interleukin-4 production, negative regulation of interleukin-13 production, negative regulation of interferon-gamma production, response to lipopolysaccharide, response to ozone, response to xenobiotic stimulus, embryo implantation, female pregnancy, signal transduction, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 3 ENSG00000149043 chr11 1828307 1837521 + SYT8 protein_coding 90019 GO:0070382, GO:0031045, GO:0030672, GO:0030424, GO:0016021, GO:0005886, GO:0001669, exocytic vesicle, dense core granule, synaptic vesicle membrane, axon, integral component of membrane, plasma membrane, acrosomal vesicle, GO:0048306, GO:0030276, GO:0019905, GO:0005544, GO:0005509, GO:0001786, GO:0000149, calcium-dependent protein binding, clathrin binding, syntaxin binding, calcium-dependent phospholipid binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:0071277, GO:0048791, GO:0048488, GO:0017158, GO:0017156, GO:0016192, GO:0014059, GO:0007340, cellular response to calcium ion, calcium ion-regulated exocytosis of neurotransmitter, synaptic vesicle endocytosis, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, acrosome reaction, 0 0 0 8 2 2 0 0 0 ENSG00000149050 chr11 6999318 7020368 - ZNF214 protein_coding This gene is expressed predominantly in the testis and encodes a zinc finger protein that contains an N-terminal kruppel-associated box A (KRABA) domain and twelve zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [provided by RefSeq, Aug 2017]. 7761 GO:0005634, nucleus, GO:0008270, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000149054 chr11 6926404 7001004 + ZNF215 protein_coding This gene is imprinted in a tissue-specific manner with preferential expression in the testis, and encodes a zinc finger protein that belongs to a family of zinc finger transcription factors. The encoded protein contains an N-terminal SRE-ZBP, Ctfin51, AW-1, and Number 18 (SCAN) domain, a kruppel-associated box A (KRABA) domain, and four C-terminal zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [provided by RefSeq, Aug 2017]. 7762 GO:0000785, chromatin, GO:0046872, GO:0003700, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 4 0 0 ENSG00000149084 chr11 43680558 43856617 + HSD17B12 protein_coding This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]. 51144 GO:0031012, GO:0016021, GO:0009923, GO:0005789, extracellular matrix, integral component of membrane, fatty acid elongase complex, endoplasmic reticulum membrane, GO:0102342, GO:0102341, GO:0102340, GO:0102339, GO:0050062, GO:0008201, GO:0005518, GO:0005515, GO:0004303, GO:0001968, 3-oxo-cerotoyl-CoA reductase activity, 3-oxo-lignoceroyl-CoA reductase activity, 3-oxo-behenoyl-CoA reductase activity, 3-oxo-arachidoyl-CoA reductase activity, long-chain-fatty-acyl-CoA reductase activity, heparin binding, collagen binding, protein binding, estradiol 17-beta-dehydrogenase activity, fibronectin binding, GO:0055114, GO:0035338, GO:0030198, GO:0010811, GO:0006703, GO:0006633, oxidation-reduction process, long-chain fatty-acyl-CoA biosynthetic process, extracellular matrix organization, positive regulation of cell-substrate adhesion, estrogen biosynthetic process, fatty acid biosynthetic process, 56 165 179 80 193 148 109 182 101 ENSG00000149089 chr11 34853094 34916499 - APIP protein_coding APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]. 51074 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:0046570, GO:0046570, GO:0042802, GO:0008270, GO:0005515, methylthioribulose 1-phosphate dehydratase activity, methylthioribulose 1-phosphate dehydratase activity, identical protein binding, zinc ion binding, protein binding, GO:0070372, GO:0070269, GO:0051289, GO:0043066, GO:0019509, GO:0019509, GO:0019509, GO:0019284, GO:0006915, regulation of ERK1 and ERK2 cascade, pyroptosis, protein homotetramerization, negative regulation of apoptotic process, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from S-adenosylmethionine, apoptotic process, 39 25 53 48 31 32 33 42 26 ENSG00000149090 chr11 35431823 35530300 - PAMR1 protein_coding 25891 GO:0005576, extracellular region, GO:0005509, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000149091 chr11 46332905 46380554 + DGKZ protein_coding The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]. 8525 GO:0030027, GO:0016607, GO:0005886, GO:0005829, GO:0005737, GO:0005634, GO:0005634, lamellipodium, nuclear speck, plasma membrane, cytosol, cytoplasm, nucleus, nucleus, GO:0046872, GO:0016301, GO:0005524, GO:0005515, GO:0004143, GO:0004143, GO:0003951, metal ion binding, kinase activity, ATP binding, protein binding, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:0090216, GO:0051966, GO:0050860, GO:0046834, GO:0046834, GO:0046486, GO:0046339, GO:0046339, GO:0035556, GO:0030168, GO:0016477, GO:0007205, GO:0006654, GO:0006654, GO:0006654, positive regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity, regulation of synaptic transmission, glutamatergic, negative regulation of T cell receptor signaling pathway, lipid phosphorylation, lipid phosphorylation, glycerolipid metabolic process, diacylglycerol metabolic process, diacylglycerol metabolic process, intracellular signal transduction, platelet activation, cell migration, protein kinase C-activating G protein-coupled receptor signaling pathway, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, 1265 1529 1589 1459 1946 1724 1618 1468 1534 ENSG00000149100 chr11 32583798 32606262 + EIF3M protein_coding This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011]. 10480 GO:0071541, GO:0033290, GO:0016282, GO:0005852, GO:0005852, GO:0005829, eukaryotic translation initiation factor 3 complex, eIF3m, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, GO:0031369, GO:0005515, GO:0003743, GO:0003743, translation initiation factor binding, protein binding, translation initiation factor activity, translation initiation factor activity, GO:0016032, GO:0006413, GO:0006413, GO:0002183, GO:0001732, viral process, translational initiation, translational initiation, cytoplasmic translational initiation, formation of cytoplasmic translation initiation complex, 129 79 122 256 176 270 182 121 125 ENSG00000149115 chr11 57299638 57324952 - TNKS1BP1 protein_coding 85456 GO:0030014, GO:0005912, GO:0005856, GO:0005829, GO:0005737, GO:0005634, GO:0000792, CCR4-NOT complex, adherens junction, cytoskeleton, cytosol, cytoplasm, nucleus, heterochromatin, GO:0071532, GO:0071532, GO:0045296, GO:0044877, GO:0019899, GO:0005515, ankyrin repeat binding, ankyrin repeat binding, cadherin binding, protein-containing complex binding, enzyme binding, protein binding, GO:0071479, GO:0033138, GO:0031954, GO:0010800, GO:0007004, GO:0006977, GO:0006302, GO:0000289, cellular response to ionizing radiation, positive regulation of peptidyl-serine phosphorylation, positive regulation of protein autophosphorylation, positive regulation of peptidyl-threonine phosphorylation, telomere maintenance via telomerase, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, double-strand break repair, nuclear-transcribed mRNA poly(A) tail shortening, 18 15 19 19 8 16 31 7 12 ENSG00000149124 chr11 58640426 58731974 - GLYAT protein_coding The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10249 GO:0005759, GO:0005739, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0047962, GO:0047962, GO:0047962, GO:0047961, GO:0047961, GO:0016746, GO:0016410, GO:0005515, glycine N-benzoyltransferase activity, glycine N-benzoyltransferase activity, glycine N-benzoyltransferase activity, glycine N-acyltransferase activity, glycine N-acyltransferase activity, transferase activity, transferring acyl groups, N-acyltransferase activity, protein binding, GO:1901787, GO:0032787, GO:0009636, GO:0006805, GO:0006637, GO:0006544, GO:0006544, GO:0006544, benzoyl-CoA metabolic process, monocarboxylic acid metabolic process, response to toxic substance, xenobiotic metabolic process, acyl-CoA metabolic process, glycine metabolic process, glycine metabolic process, glycine metabolic process, 0 0 0 0 0 0 0 1 0 ENSG00000149131 chr11 57597387 57614853 + SERPING1 protein_coding This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]. 710 GO:0072562, GO:0070062, GO:0062023, GO:0031093, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, platelet alpha granule lumen, extracellular space, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0004867, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0042730, GO:0030449, GO:0010951, GO:0008015, GO:0007597, GO:0007568, GO:0006958, GO:0002576, GO:0001869, innate immune response, fibrinolysis, regulation of complement activation, negative regulation of endopeptidase activity, blood circulation, blood coagulation, intrinsic pathway, aging, complement activation, classical pathway, platelet degranulation, negative regulation of complement activation, lectin pathway, 124 228 213 22 120 53 40 97 69 ENSG00000149133 chr11 55993681 55994625 - OR5F1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 338674 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000149136 chr11 57325985 57335877 - SSRP1 protein_coding The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008]. 6749 GO:0035101, GO:0005730, GO:0005654, FACT complex, nucleolus, nucleoplasm, GO:0042393, GO:0031491, GO:0005515, GO:0003723, GO:0003677, histone binding, nucleosome binding, protein binding, RNA binding, DNA binding, GO:1902275, GO:1902275, GO:1901796, GO:0016032, GO:0006368, GO:0006366, GO:0006281, GO:0006260, regulation of chromatin organization, regulation of chromatin organization, regulation of signal transduction by p53 class mediator, viral process, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, DNA repair, DNA replication, 54 47 86 164 86 229 127 58 123 ENSG00000149150 chr11 57484534 57515786 - SLC43A1 protein_coding SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]. 8501 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0015179, GO:0015175, GO:0015175, GO:0015171, GO:0005515, L-amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:1902475, GO:0060358, GO:0051956, GO:0015804, GO:0015804, GO:0006865, L-alpha-amino acid transmembrane transport, negative regulation of leucine import, negative regulation of amino acid transport, neutral amino acid transport, neutral amino acid transport, amino acid transport, 11 3 4 19 4 11 22 4 18 ENSG00000149177 chr11 47980558 48170841 + PTPRJ protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5795 GO:0070062, GO:0035579, GO:0032587, GO:0009986, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0001772, extracellular exosome, specific granule membrane, ruffle membrane, cell surface, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, immunological synapse, GO:0070097, GO:0051019, GO:0045296, GO:0045295, GO:0019901, GO:0016791, GO:0016791, GO:0008013, GO:0005515, GO:0005161, GO:0004725, GO:0004725, GO:0004725, GO:0004725, delta-catenin binding, mitogen-activated protein kinase binding, cadherin binding, gamma-catenin binding, protein kinase binding, phosphatase activity, phosphatase activity, beta-catenin binding, protein binding, platelet-derived growth factor receptor binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1905451, GO:0060242, GO:0051898, GO:0051897, GO:0051894, GO:0050918, GO:0050860, GO:0050860, GO:0050852, GO:0050731, GO:0048008, GO:0045785, GO:0043410, GO:0043407, GO:0043407, GO:0043312, GO:0043116, GO:0042059, GO:0035584, GO:0035335, GO:0035335, GO:0032760, GO:0030336, GO:0030308, GO:0030183, GO:0030155, GO:0010642, GO:0008285, GO:0006470, positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis, contact inhibition, negative regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of focal adhesion assembly, positive chemotaxis, negative regulation of T cell receptor signaling pathway, negative regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, positive regulation of peptidyl-tyrosine phosphorylation, platelet-derived growth factor receptor signaling pathway, positive regulation of cell adhesion, positive regulation of MAPK cascade, negative regulation of MAP kinase activity, negative regulation of MAP kinase activity, neutrophil degranulation, negative regulation of vascular permeability, negative regulation of epidermal growth factor receptor signaling pathway, calcium-mediated signaling using intracellular calcium source, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, positive regulation of tumor necrosis factor production, negative regulation of cell migration, negative regulation of cell growth, B cell differentiation, regulation of cell adhesion, negative regulation of platelet-derived growth factor receptor signaling pathway, negative regulation of cell population proliferation, protein dephosphorylation, 4860 4870 6660 2159 3586 3218 2282 2791 2563 ENSG00000149179 chr11 46936689 47164385 + C11orf49 protein_coding 79096 GO:0005515, protein binding, 27 38 43 51 45 58 46 30 82 ENSG00000149182 chr11 47164299 47177125 - ARFGAP2 protein_coding 84364 GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0000139, plasma membrane, cytosol, cytosol, Golgi apparatus, Golgi membrane, GO:0046872, GO:0005096, metal ion binding, GTPase activator activity, GO:0048205, GO:0043547, GO:0015031, GO:0006890, GO:0006888, COPI coating of Golgi vesicle, positive regulation of GTPase activity, protein transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, 525 503 622 364 466 460 399 358 311 ENSG00000149187 chr11 47465933 47565569 - CELF1 protein_coding Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 10658 GO:1990904, GO:1990904, GO:0097356, GO:0016020, GO:0010494, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, perinucleolar compartment, membrane, cytoplasmic stress granule, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0042835, GO:0036002, GO:0005515, GO:0003730, GO:0003730, GO:0003730, GO:0003729, GO:0003729, GO:0003723, GO:0003723, GO:0003723, GO:0000900, BRE binding, pre-mRNA binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA binding, mRNA binding, RNA binding, RNA binding, RNA binding, translation repressor activity, mRNA regulatory element binding, GO:0061157, GO:0050727, GO:0043484, GO:0016441, GO:0016441, GO:0016246, GO:0010942, GO:0010629, GO:0010628, GO:0009792, GO:0007281, GO:0006397, GO:0006376, GO:0006376, GO:0006376, GO:0000381, mRNA destabilization, regulation of inflammatory response, regulation of RNA splicing, posttranscriptional gene silencing, posttranscriptional gene silencing, RNA interference, positive regulation of cell death, negative regulation of gene expression, positive regulation of gene expression, embryo development ending in birth or egg hatching, germ cell development, mRNA processing, mRNA splice site selection, mRNA splice site selection, mRNA splice site selection, regulation of alternative mRNA splicing, via spliceosome, 1854 1962 2401 1687 2297 2510 2190 1755 2101 ENSG00000149196 chr11 86302211 86345931 + HIKESHI protein_coding This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]. 51501 GO:0016607, GO:0016604, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, nuclear speck, nuclear body, cytosol, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0061608, GO:0061608, GO:0030544, GO:0030544, GO:0030544, GO:0005515, nuclear import signal receptor activity, nuclear import signal receptor activity, Hsp70 protein binding, Hsp70 protein binding, Hsp70 protein binding, protein binding, GO:1900034, GO:0034605, GO:0030324, GO:0015031, GO:0007030, GO:0006606, GO:0006606, regulation of cellular response to heat, cellular response to heat, lung development, protein transport, Golgi organization, protein import into nucleus, protein import into nucleus, 24 22 37 36 37 51 36 37 36 ENSG00000149201 chr11 86374736 86423109 + CCDC81 protein_coding 60494 GO:0005813, GO:0005813, GO:0005737, centrosome, centrosome, cytoplasm, GO:0005515, protein binding, 1 0 2 0 0 1 3 1 3 ENSG00000149212 chr11 95165513 95232541 - SESN3 protein_coding This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. 143686 GO:0061700, GO:0061700, GO:0031932, GO:0005737, GO:0005634, GATOR2 complex, GATOR2 complex, TORC2 complex, cytoplasm, nucleus, GO:0070728, GO:0016684, GO:0005515, leucine binding, oxidoreductase activity, acting on peroxide as acceptor, protein binding, GO:1990253, GO:1904262, GO:1904262, GO:1901031, GO:0071233, GO:0055114, GO:0051896, GO:0046626, GO:0042593, GO:0042149, GO:0038203, GO:0034198, GO:0032868, GO:0016239, cellular response to leucine starvation, negative regulation of TORC1 signaling, negative regulation of TORC1 signaling, regulation of response to reactive oxygen species, cellular response to leucine, oxidation-reduction process, regulation of protein kinase B signaling, regulation of insulin receptor signaling pathway, glucose homeostasis, cellular response to glucose starvation, TORC2 signaling, cellular response to amino acid starvation, response to insulin, positive regulation of macroautophagy, 627 603 713 434 461 616 580 388 486 ENSG00000149218 chr11 95089810 95132645 + ENDOD1 protein_coding 23052 GO:0070062, GO:0016020, GO:0005829, GO:0005576, extracellular exosome, membrane, cytosol, extracellular region, GO:0046872, GO:0005515, GO:0004519, GO:0003676, metal ion binding, protein binding, endonuclease activity, nucleic acid binding, GO:0090305, GO:0002576, nucleic acid phosphodiester bond hydrolysis, platelet degranulation, 17 5 25 36 21 56 31 16 57 ENSG00000149231 chr11 96352769 96389956 - CCDC82 protein_coding 79780 GO:0005634, nucleus, 414 434 520 381 435 471 427 347 379 ENSG00000149243 chr11 75422394 75430629 - KLHL35 protein_coding 283212 GO:0005515, protein binding, 5 0 0 0 3 0 0 9 0 ENSG00000149256 chr11 78652831 79440948 - TENM4 protein_coding The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]. 26011 GO:0043005, GO:0043005, GO:0005887, GO:0005886, GO:0005737, GO:0005634, neuron projection, neuron projection, integral component of plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0050839, GO:0046982, GO:0042803, GO:0042803, GO:0005515, cell adhesion molecule binding, protein heterodimerization activity, protein homodimerization activity, protein homodimerization activity, protein binding, GO:2000543, GO:0060912, GO:0060038, GO:0048714, GO:0048666, GO:0048666, GO:0032289, GO:0032289, GO:0031643, GO:0031641, GO:0007165, GO:0007157, GO:0001702, positive regulation of gastrulation, cardiac cell fate specification, cardiac muscle cell proliferation, positive regulation of oligodendrocyte differentiation, neuron development, neuron development, central nervous system myelin formation, central nervous system myelin formation, positive regulation of myelination, regulation of myelination, signal transduction, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, gastrulation with mouth forming second, 0 0 0 0 0 0 0 0 0 ENSG00000149257 chr11 75562056 75572783 + SERPINH1 protein_coding This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]. 871 GO:0062023, GO:0062023, GO:0045121, GO:0005793, GO:0005788, GO:0005783, GO:0005783, GO:0005783, GO:0005615, collagen-containing extracellular matrix, collagen-containing extracellular matrix, membrane raft, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, extracellular space, GO:0051082, GO:0005518, GO:0005515, GO:0004867, GO:0003723, unfolded protein binding, collagen binding, protein binding, serine-type endopeptidase inhibitor activity, RNA binding, GO:0051604, GO:0032964, GO:0030199, GO:0010951, GO:0006986, GO:0003433, protein maturation, collagen biosynthetic process, collagen fibril organization, negative regulation of endopeptidase activity, response to unfolded protein, chondrocyte development involved in endochondral bone morphogenesis, 6 10 50 31 8 36 12 5 15 ENSG00000149260 chr11 77066941 77126155 + CAPN5 protein_coding Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]. 726 GO:0070062, GO:0009986, GO:0005925, GO:0005737, extracellular exosome, cell surface, focal adhesion, cytoplasm, GO:0004198, calcium-dependent cysteine-type endopeptidase activity, GO:0007165, GO:0006508, signal transduction, proteolysis, 3 1 3 17 6 11 12 1 10 ENSG00000149262 chr11 77878720 77994678 - INTS4 protein_coding INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]. 92105 GO:0032039, GO:0032039, GO:0005730, GO:0005654, GO:0005634, integrator complex, integrator complex, nucleolus, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0042795, GO:0016180, GO:0016180, snRNA transcription by RNA polymerase II, snRNA processing, snRNA processing, 189 235 272 237 257 275 268 207 219 ENSG00000149269 chr11 77321707 77474635 - PAK1 protein_coding This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]. 5058 GO:0071437, GO:0032991, GO:0032587, GO:0031965, GO:0030425, GO:0030424, GO:0030027, GO:0030018, GO:0014704, GO:0005925, GO:0005911, GO:0005886, GO:0005886, GO:0005884, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005694, GO:0005654, GO:0001726, invadopodium, protein-containing complex, ruffle membrane, nuclear membrane, dendrite, axon, lamellipodium, Z disc, intercalated disc, focal adhesion, cell-cell junction, plasma membrane, plasma membrane, actin filament, cytosol, cytosol, cytoplasm, cytoplasm, chromosome, nucleoplasm, ruffle, GO:0106311, GO:0106310, GO:0031267, GO:0019901, GO:0005524, GO:0005518, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, small GTPase binding, protein kinase binding, ATP binding, collagen binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1904754, GO:1904707, GO:0090314, GO:0061052, GO:0060244, GO:0051496, GO:0050852, GO:0050770, GO:0048812, GO:0048754, GO:0048013, GO:0048012, GO:0046777, GO:0046628, GO:0045773, GO:0043507, GO:0042060, GO:0038096, GO:0038095, GO:0033148, GO:0033138, GO:0032869, GO:0032147, GO:0031532, GO:0031532, GO:0031295, GO:0031116, GO:0031098, GO:0030335, GO:0030010, GO:0023014, GO:0021549, GO:0016477, GO:0010763, GO:0008284, GO:0006974, GO:0006915, GO:0006887, GO:0006468, GO:0006338, GO:0002223, GO:0001934, GO:0001666, GO:0000165, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of protein targeting to membrane, negative regulation of cell growth involved in cardiac muscle cell development, negative regulation of cell proliferation involved in contact inhibition, positive regulation of stress fiber assembly, T cell receptor signaling pathway, regulation of axonogenesis, neuron projection morphogenesis, branching morphogenesis of an epithelial tube, ephrin receptor signaling pathway, hepatocyte growth factor receptor signaling pathway, protein autophosphorylation, positive regulation of insulin receptor signaling pathway, positive regulation of axon extension, positive regulation of JUN kinase activity, wound healing, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, positive regulation of intracellular estrogen receptor signaling pathway, positive regulation of peptidyl-serine phosphorylation, cellular response to insulin stimulus, activation of protein kinase activity, actin cytoskeleton reorganization, actin cytoskeleton reorganization, T cell costimulation, positive regulation of microtubule polymerization, stress-activated protein kinase signaling cascade, positive regulation of cell migration, establishment of cell polarity, signal transduction by protein phosphorylation, cerebellum development, cell migration, positive regulation of fibroblast migration, positive regulation of cell population proliferation, cellular response to DNA damage stimulus, apoptotic process, exocytosis, protein phosphorylation, chromatin remodeling, stimulatory C-type lectin receptor signaling pathway, positive regulation of protein phosphorylation, response to hypoxia, MAPK cascade, 3236 3175 4592 1580 2500 2363 1861 2008 2005 ENSG00000149273 chr11 75399486 75422280 + RPS3 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 6188 GO:1990904, GO:0072686, GO:0071159, GO:0070062, GO:0032587, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0014069, GO:0014069, GO:0005925, GO:0005886, GO:0005844, GO:0005840, GO:0005829, GO:0005829, GO:0005783, GO:0005759, GO:0005743, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005634, ribonucleoprotein complex, mitotic spindle, NF-kappaB complex, extracellular exosome, ruffle membrane, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, postsynaptic density, postsynaptic density, focal adhesion, plasma membrane, polysome, ribosome, cytosol, cytosol, endoplasmic reticulum, mitochondrial matrix, mitochondrial inner membrane, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, nucleus, GO:0140078, GO:0097100, GO:0070181, GO:0051879, GO:0051536, GO:0051018, GO:0044877, GO:0044390, GO:0032358, GO:0032357, GO:0030544, GO:0019901, GO:0019900, GO:0019899, GO:0019104, GO:0019104, GO:0015631, GO:0008134, GO:0008017, GO:0005515, GO:0004520, GO:0003906, GO:0003735, GO:0003735, GO:0003735, GO:0003729, GO:0003723, GO:0003723, GO:0003684, GO:0003677, GO:0000977, class I DNA-(apurinic or apyrimidinic site) endonuclease activity, supercoiled DNA binding, small ribosomal subunit rRNA binding, Hsp90 protein binding, iron-sulfur cluster binding, protein kinase A binding, protein-containing complex binding, ubiquitin-like protein conjugating enzyme binding, oxidized pyrimidine DNA binding, oxidized purine DNA binding, Hsp70 protein binding, protein kinase binding, kinase binding, enzyme binding, DNA N-glycosylase activity, DNA N-glycosylase activity, tubulin binding, transcription factor binding, microtubule binding, protein binding, endodeoxyribonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, mRNA binding, RNA binding, RNA binding, damaged DNA binding, DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001272, GO:2001235, GO:2001235, GO:1905053, GO:1902546, GO:1902231, GO:1901224, GO:0071356, GO:0070301, GO:0061481, GO:0051301, GO:0051225, GO:0051092, GO:0051092, GO:0050862, GO:0045739, GO:0045738, GO:0043507, GO:0042981, GO:0042769, GO:0042769, GO:0042104, GO:0034614, GO:0032743, GO:0032079, GO:0031397, GO:0031334, GO:0031116, GO:0019083, GO:0017148, GO:0010628, GO:0007059, GO:0006974, GO:0006915, GO:0006614, GO:0006413, GO:0006413, GO:0006412, GO:0006412, GO:0006281, GO:0000184, positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis, positive regulation of apoptotic signaling pathway, positive regulation of apoptotic signaling pathway, positive regulation of base-excision repair, positive regulation of DNA N-glycosylase activity, positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of NIK/NF-kappaB signaling, cellular response to tumor necrosis factor, cellular response to hydrogen peroxide, response to TNF agonist, cell division, spindle assembly, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of T cell receptor signaling pathway, positive regulation of DNA repair, negative regulation of DNA repair, positive regulation of JUN kinase activity, regulation of apoptotic process, DNA damage response, detection of DNA damage, DNA damage response, detection of DNA damage, positive regulation of activated T cell proliferation, cellular response to reactive oxygen species, positive regulation of interleukin-2 production, positive regulation of endodeoxyribonuclease activity, negative regulation of protein ubiquitination, positive regulation of protein-containing complex assembly, positive regulation of microtubule polymerization, viral transcription, negative regulation of translation, positive regulation of gene expression, chromosome segregation, cellular response to DNA damage stimulus, apoptotic process, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translational initiation, translation, translation, DNA repair, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1579 1181 2259 3457 1654 3966 2706 1575 2921 ENSG00000149289 chr11 110093361 110171841 + ZC3H12C protein_coding 85463 GO:0036464, GO:0005634, GO:0005575, cytoplasmic ribonucleoprotein granule, nucleus, cellular_component, GO:0046872, GO:0005515, GO:0004521, GO:0003729, GO:0003674, metal ion binding, protein binding, endoribonuclease activity, mRNA binding, molecular_function, GO:0090502, GO:0008150, RNA phosphodiester bond hydrolysis, endonucleolytic, biological_process, 8 30 63 14 26 39 27 20 32 ENSG00000149292 chr11 113314529 113383544 + TTC12 protein_coding 54970 GO:0005813, GO:0005737, centrosome, cytoplasm, GO:0070286, GO:0007288, axonemal dynein complex assembly, sperm axoneme assembly, 38 38 44 45 37 59 56 29 49 ENSG00000149294 chr11 112961247 113278436 + NCAM1 protein_coding This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2020]. 4684 GO:0062023, GO:0043005, GO:0031225, GO:0016021, GO:0016020, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005829, GO:0000139, collagen-containing extracellular matrix, neuron projection, anchored component of membrane, integral component of membrane, membrane, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi membrane, GO:0005515, GO:0001618, protein binding, virus receptor activity, GO:2001260, GO:0071679, GO:0060333, GO:0046718, GO:0007411, GO:0007155, GO:0000165, regulation of semaphorin-plexin signaling pathway, commissural neuron axon guidance, interferon-gamma-mediated signaling pathway, viral entry into host cell, axon guidance, cell adhesion, MAPK cascade, 6 8 26 11 10 47 20 23 35 ENSG00000149295 chr11 113409615 113475691 - DRD2 protein_coding This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]. 1813 GO:0099056, GO:0098978, GO:0098691, GO:0097730, GO:0060170, GO:0043679, GO:0043204, GO:0043197, GO:0036126, GO:0030672, GO:0030425, GO:0030424, GO:0030139, GO:0016328, GO:0014069, GO:0005929, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0001669, GO:0000139, integral component of presynaptic membrane, glutamatergic synapse, dopaminergic synapse, non-motile cilium, ciliary membrane, axon terminus, perikaryon, dendritic spine, sperm flagellum, synaptic vesicle membrane, dendrite, axon, endocytic vesicle, lateral plasma membrane, postsynaptic density, cilium, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, acrosomal vesicle, Golgi membrane, GO:0044877, GO:0042802, GO:0035255, GO:0035240, GO:0008144, GO:0005515, GO:0004930, GO:0001591, GO:0001591, protein-containing complex binding, identical protein binding, ionotropic glutamate receptor binding, dopamine binding, drug binding, protein binding, G protein-coupled receptor activity, dopamine neurotransmitter receptor activity, coupled via Gi/Go, dopamine neurotransmitter receptor activity, coupled via Gi/Go, GO:2000300, GO:1990384, GO:1901386, GO:1900273, GO:1900168, GO:0099170, GO:0090325, GO:0071880, GO:0070374, GO:0060548, GO:0060160, GO:0060158, GO:0060158, GO:0060134, GO:0060124, GO:0060079, GO:0051967, GO:0051967, GO:0051898, GO:0051898, GO:0051823, GO:0051586, GO:0051584, GO:0051482, GO:0051481, GO:0051209, GO:0050709, GO:0050482, GO:0048755, GO:0048678, GO:0048169, GO:0048149, GO:0048148, GO:0046717, GO:0046676, GO:0045944, GO:0045824, GO:0045776, GO:0045745, GO:0043666, GO:0043473, GO:0043278, GO:0043266, GO:0043266, GO:0042756, GO:0042493, GO:0042417, GO:0042321, GO:0042220, GO:0040018, GO:0035815, GO:0035810, GO:0035094, GO:0034776, GO:0033602, GO:0032922, GO:0032467, GO:0032228, GO:0032147, GO:0031223, GO:0030432, GO:0030336, GO:0021984, GO:0021853, GO:0021769, GO:0021756, GO:0016055, GO:0014854, GO:0014059, GO:0010039, GO:0009636, GO:0009416, GO:0008542, GO:0008306, GO:0008285, GO:0008104, GO:0007628, GO:0007626, GO:0007625, GO:0007616, GO:0007608, GO:0007416, GO:0007409, GO:0007270, GO:0007195, GO:0007195, GO:0007194, GO:0007186, GO:0006914, GO:0002092, GO:0002052, GO:0002031, GO:0002028, GO:0002027, GO:0001976, GO:0001975, GO:0001933, GO:0001666, GO:0001659, regulation of synaptic vesicle exocytosis, hyaloid vascular plexus regression, negative regulation of voltage-gated calcium channel activity, positive regulation of long-term synaptic potentiation, positive regulation of glial cell-derived neurotrophic factor production, postsynaptic modulation of chemical synaptic transmission, regulation of locomotion involved in locomotory behavior, adenylate cyclase-activating adrenergic receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, negative regulation of cell death, negative regulation of dopamine receptor signaling pathway, phospholipase C-activating dopamine receptor signaling pathway, phospholipase C-activating dopamine receptor signaling pathway, prepulse inhibition, positive regulation of growth hormone secretion, excitatory postsynaptic potential, negative regulation of synaptic transmission, glutamatergic, negative regulation of synaptic transmission, glutamatergic, negative regulation of protein kinase B signaling, negative regulation of protein kinase B signaling, regulation of synapse structural plasticity, positive regulation of dopamine uptake involved in synaptic transmission, regulation of dopamine uptake involved in synaptic transmission, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, negative regulation of cytosolic calcium ion concentration, release of sequestered calcium ion into cytosol, negative regulation of protein secretion, arachidonic acid secretion, branching morphogenesis of a nerve, response to axon injury, regulation of long-term neuronal synaptic plasticity, behavioral response to ethanol, behavioral response to cocaine, acid secretion, negative regulation of insulin secretion, positive regulation of transcription by RNA polymerase II, negative regulation of innate immune response, negative regulation of blood pressure, positive regulation of G protein-coupled receptor signaling pathway, regulation of phosphoprotein phosphatase activity, pigmentation, response to morphine, regulation of potassium ion transport, regulation of potassium ion transport, drinking behavior, response to drug, dopamine metabolic process, negative regulation of circadian sleep/wake cycle, sleep, response to cocaine, positive regulation of multicellular organism growth, positive regulation of renal sodium excretion, positive regulation of urine volume, response to nicotine, response to histamine, negative regulation of dopamine secretion, circadian regulation of gene expression, positive regulation of cytokinesis, regulation of synaptic transmission, GABAergic, activation of protein kinase activity, auditory behavior, peristalsis, negative regulation of cell migration, adenohypophysis development, cerebral cortex GABAergic interneuron migration, orbitofrontal cortex development, striatum development, Wnt signaling pathway, response to inactivity, regulation of dopamine secretion, response to iron ion, response to toxic substance, response to light stimulus, visual learning, associative learning, negative regulation of cell population proliferation, protein localization, adult walking behavior, locomotory behavior, grooming behavior, long-term memory, sensory perception of smell, synapse assembly, axonogenesis, neuron-neuron synaptic transmission, adenylate cyclase-inhibiting dopamine receptor signaling pathway, adenylate cyclase-inhibiting dopamine receptor signaling pathway, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, autophagy, positive regulation of receptor internalization, positive regulation of neuroblast proliferation, G protein-coupled receptor internalization, regulation of sodium ion transport, regulation of heart rate, nervous system process involved in regulation of systemic arterial blood pressure, response to amphetamine, negative regulation of protein phosphorylation, response to hypoxia, temperature homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000149300 chr11 111918032 111926872 + C11orf52 protein_coding 91894 GO:0070062, extracellular exosome, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000149305 chr11 113904677 113946565 + HTR3B protein_coding The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]. 9177 GO:1904602, GO:0045211, GO:0045202, GO:0043005, GO:0009986, GO:0005887, GO:0005886, serotonin-activated cation-selective channel complex, postsynaptic membrane, synapse, neuron projection, cell surface, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0022850, GO:0022850, GO:0004888, neurotransmitter receptor activity, serotonin-gated cation-selective channel activity, serotonin-gated cation-selective channel activity, transmembrane signaling receptor activity, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007268, GO:0007210, GO:0007165, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, chemical synaptic transmission, serotonin receptor signaling pathway, signal transduction, 5 1 13 3 3 8 3 0 3 ENSG00000149308 chr11 108157215 108222642 - NPAT protein_coding 4863 GO:0097504, GO:0015030, GO:0005737, GO:0005654, GO:0005634, GO:0005634, Gemini of coiled bodies, Cajal body, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0008022, GO:0005515, GO:0003714, GO:0003713, GO:0003713, GO:0003712, protein C-terminus binding, protein binding, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, GO:1903507, GO:0045944, GO:0045893, GO:0010468, GO:0000083, GO:0000083, negative regulation of nucleic acid-templated transcription, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of gene expression, regulation of transcription involved in G1/S transition of mitotic cell cycle, regulation of transcription involved in G1/S transition of mitotic cell cycle, 252 304 514 299 219 306 300 190 288 ENSG00000149311 chr11 108222484 108369102 + ATM protein_coding The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]. 472 GO:1990391, GO:0043231, GO:0031410, GO:0005819, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, GO:0000781, DNA repair complex, intracellular membrane-bounded organelle, cytoplasmic vesicle, spindle, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, chromosome, telomeric region, GO:0106311, GO:0106310, GO:0047485, GO:0044877, GO:0042802, GO:0016303, GO:0005524, GO:0005515, GO:0004677, GO:0004674, GO:0004674, GO:0004674, GO:0003677, protein threonine kinase activity, protein serine kinase activity, protein N-terminus binding, protein-containing complex binding, identical protein binding, 1-phosphatidylinositol-3-kinase activity, ATP binding, protein binding, DNA-dependent protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, DNA binding, GO:1905843, GO:1904884, GO:1904358, GO:1904354, GO:1904262, GO:1904262, GO:1903978, GO:1903626, GO:1901796, GO:1900034, GO:0097695, GO:0097694, GO:0090399, GO:0072434, GO:0071500, GO:0071481, GO:0071480, GO:0071300, GO:0071044, GO:0051972, GO:0051402, GO:0048599, GO:0048538, GO:0046777, GO:0046777, GO:0045944, GO:0045785, GO:0045141, GO:0043525, GO:0043517, GO:0043065, GO:0042981, GO:0042159, GO:0036289, GO:0036092, GO:0035264, GO:0033151, GO:0033129, GO:0032212, GO:0032210, GO:0030889, GO:0030335, GO:0018105, GO:0016572, GO:0010628, GO:0010506, GO:0010212, GO:0009791, GO:0008630, GO:0008340, GO:0007507, GO:0007420, GO:0007165, GO:0007143, GO:0007140, GO:0007131, GO:0007094, GO:0007050, GO:0006977, GO:0006975, GO:0006974, GO:0006974, GO:0006468, GO:0006468, GO:0006303, GO:0006260, GO:0002377, GO:0002331, GO:0001756, GO:0001666, GO:0001541, GO:0000729, GO:0000724, GO:0000723, GO:0000077, regulation of cellular response to gamma radiation, positive regulation of telomerase catalytic core complex assembly, positive regulation of telomere maintenance via telomere lengthening, negative regulation of telomere capping, negative regulation of TORC1 signaling, negative regulation of TORC1 signaling, regulation of microglial cell activation, positive regulation of DNA catabolic process, regulation of signal transduction by p53 class mediator, regulation of cellular response to heat, establishment of protein-containing complex localization to telomere, establishment of RNA localization to telomere, replicative senescence, signal transduction involved in mitotic G2 DNA damage checkpoint, cellular response to nitrosative stress, cellular response to X-ray, cellular response to gamma radiation, cellular response to retinoic acid, histone mRNA catabolic process, regulation of telomerase activity, neuron apoptotic process, oocyte development, thymus development, protein autophosphorylation, protein autophosphorylation, positive regulation of transcription by RNA polymerase II, positive regulation of cell adhesion, meiotic telomere clustering, positive regulation of neuron apoptotic process, positive regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of apoptotic process, regulation of apoptotic process, lipoprotein catabolic process, peptidyl-serine autophosphorylation, phosphatidylinositol-3-phosphate biosynthetic process, multicellular organism growth, V(D)J recombination, positive regulation of histone phosphorylation, positive regulation of telomere maintenance via telomerase, regulation of telomere maintenance via telomerase, negative regulation of B cell proliferation, positive regulation of cell migration, peptidyl-serine phosphorylation, histone phosphorylation, positive regulation of gene expression, regulation of autophagy, response to ionizing radiation, post-embryonic development, intrinsic apoptotic signaling pathway in response to DNA damage, determination of adult lifespan, heart development, brain development, signal transduction, female meiotic nuclear division, male meiotic nuclear division, reciprocal meiotic recombination, mitotic spindle assembly checkpoint, cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, DNA damage induced protein phosphorylation, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, protein phosphorylation, protein phosphorylation, double-strand break repair via nonhomologous end joining, DNA replication, immunoglobulin production, pre-B cell allelic exclusion, somitogenesis, response to hypoxia, ovarian follicle development, DNA double-strand break processing, double-strand break repair via homologous recombination, telomere maintenance, DNA damage checkpoint, 1545 2098 2986 2326 1966 3182 2399 1454 2347 ENSG00000149313 chr11 106075501 106098710 + AASDHPPT protein_coding The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]. 60496 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0008897, GO:0008897, GO:0008897, GO:0005515, GO:0000287, holo-[acyl-carrier-protein] synthase activity, holo-[acyl-carrier-protein] synthase activity, holo-[acyl-carrier-protein] synthase activity, protein binding, magnesium ion binding, GO:0019878, GO:0015939, lysine biosynthetic process via aminoadipic acid, pantothenate metabolic process, 139 100 145 62 37 72 75 41 54 ENSG00000149328 chr11 134331874 134378341 + GLB1L2 protein_coding 89944 GO:0005773, GO:0005576, vacuole, extracellular region, GO:0005515, GO:0004565, protein binding, beta-galactosidase activity, GO:0005975, carbohydrate metabolic process, 3 2 8 2 3 16 4 2 5 ENSG00000149346 chr20 10435303 10636829 + SLX4IP protein_coding 128710 GO:0005515, protein binding, 89 86 115 89 105 115 82 64 116 ENSG00000149357 chr11 72085895 72103387 - LAMTOR1 protein_coding 55004 GO:0101003, GO:0071986, GO:0071986, GO:0070062, GO:0045121, GO:0035579, GO:0035577, GO:0031902, GO:0005886, GO:0005765, GO:0005764, GO:0005764, ficolin-1-rich granule membrane, Ragulator complex, Ragulator complex, extracellular exosome, membrane raft, specific granule membrane, azurophil granule membrane, late endosome membrane, plasma membrane, lysosomal membrane, lysosome, lysosome, GO:0060090, GO:0060090, GO:0051020, GO:0005515, GO:0005085, GO:0005085, molecular adaptor activity, molecular adaptor activity, GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0071230, GO:0071230, GO:0060620, GO:0043410, GO:0043410, GO:0043312, GO:0042632, GO:0034613, GO:0034613, GO:0032418, GO:0032008, GO:0016241, GO:0016197, GO:0010874, GO:0010872, GO:0007050, GO:0007040, GO:0007032, GO:0001919, GO:0001919, GO:0001558, cellular response to amino acid stimulus, cellular response to amino acid stimulus, regulation of cholesterol import, positive regulation of MAPK cascade, positive regulation of MAPK cascade, neutrophil degranulation, cholesterol homeostasis, cellular protein localization, cellular protein localization, lysosome localization, positive regulation of TOR signaling, regulation of macroautophagy, endosomal transport, regulation of cholesterol efflux, regulation of cholesterol esterification, cell cycle arrest, lysosome organization, endosome organization, regulation of receptor recycling, regulation of receptor recycling, regulation of cell growth, 740 754 904 327 560 440 359 518 474 ENSG00000149380 chr11 74235801 74311657 - P4HA3 protein_coding This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 283208 GO:0005788, GO:0005783, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0031418, GO:0016702, GO:0005515, GO:0005506, GO:0004656, L-ascorbic acid binding, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, protein binding, iron ion binding, procollagen-proline 4-dioxygenase activity, GO:0055114, GO:0018401, oxidation-reduction process, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, 2 4 12 12 4 6 9 8 8 ENSG00000149403 chr11 120511700 120988904 + GRIK4 protein_coding This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 2900 GO:0099055, GO:0098686, GO:0045211, GO:0042734, GO:0032983, GO:0005887, GO:0005886, GO:0005886, integral component of postsynaptic membrane, hippocampal mossy fiber to CA3 synapse, postsynaptic membrane, presynaptic membrane, kainate selective glutamate receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1904315, GO:0038023, GO:0015277, GO:0015276, GO:0008066, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, signaling receptor activity, kainate selective glutamate receptor activity, ligand-gated ion channel activity, glutamate receptor activity, GO:0060078, GO:0050804, GO:0035249, GO:0035235, GO:0034220, GO:0007268, GO:0007215, regulation of postsynaptic membrane potential, modulation of chemical synaptic transmission, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, chemical synaptic transmission, glutamate receptor signaling pathway, 0 0 0 1 0 0 0 0 0 ENSG00000149418 chr11 130159562 130210376 + ST14 protein_coding The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]. 6768 GO:0019897, GO:0016323, GO:0005887, GO:0005886, GO:0005615, extrinsic component of plasma membrane, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, GO:0008236, GO:0004252, serine-type peptidase activity, serine-type endopeptidase activity, GO:0070268, GO:0060672, GO:0030216, GO:0030216, GO:0006508, GO:0001843, cornification, epithelial cell morphogenesis involved in placental branching, keratinocyte differentiation, keratinocyte differentiation, proteolysis, neural tube closure, 48 47 98 12 21 37 14 32 27 ENSG00000149428 chr11 119044189 119057202 - HYOU1 protein_coding The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 10525 GO:0071682, GO:0070062, GO:0034663, GO:0016020, GO:0005925, GO:0005790, GO:0005788, GO:0005783, GO:0005576, endocytic vesicle lumen, extracellular exosome, endoplasmic reticulum chaperone complex, membrane, focal adhesion, smooth endoplasmic reticulum, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular region, GO:0051087, GO:0051082, GO:0005524, GO:0005515, GO:0000774, chaperone binding, unfolded protein binding, ATP binding, protein binding, adenyl-nucleotide exchange factor activity, GO:1903382, GO:1903298, GO:1903298, GO:0071456, GO:0071456, GO:0071456, GO:0050790, GO:0036498, GO:0034976, GO:0006898, GO:0006888, GO:0002931, negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway, negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway, negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway, cellular response to hypoxia, cellular response to hypoxia, cellular response to hypoxia, regulation of catalytic activity, IRE1-mediated unfolded protein response, response to endoplasmic reticulum stress, receptor-mediated endocytosis, endoplasmic reticulum to Golgi vesicle-mediated transport, response to ischemia, 128 134 293 246 149 354 238 109 318 ENSG00000149435 chr20 23985050 23988779 - GGTLC1 protein_coding This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]. 92086 GO:0005575, cellular_component, GO:0036374, GO:0003674, glutathione hydrolase activity, molecular_function, GO:1901750, GO:0008150, GO:0006751, GO:0006508, leukotriene D4 biosynthetic process, biological_process, glutathione catabolic process, proteolysis, 0 0 0 0 0 0 0 1 0 ENSG00000149443 chr20 18809728 18830153 - C20orf78 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000149451 chr20 3667965 3682246 - ADAM33 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]. 80332 GO:0016021, integral component of membrane, GO:0008270, GO:0004222, zinc ion binding, metalloendopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000149452 chr11 62989154 63015839 - SLC22A8 protein_coding This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010]. 9376 GO:0070062, GO:0016324, GO:0016324, GO:0016323, GO:0016323, GO:0016021, GO:0005886, extracellular exosome, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, plasma membrane, GO:0005452, inorganic anion exchanger activity, GO:0150104, GO:0055085, GO:0015698, GO:0009636, transport across blood-brain barrier, transmembrane transport, inorganic anion transport, response to toxic substance, 0 0 0 0 0 0 0 0 0 ENSG00000149474 chr20 18138118 18188387 + KAT14 protein_coding CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]. 57325 GO:0005737, GO:0005671, GO:0005634, cytoplasm, Ada2/Gcn5/Ada3 transcription activator complex, nucleus, GO:0030274, GO:0005515, GO:0004402, LIM domain binding, protein binding, histone acetyltransferase activity, GO:0043966, GO:0000086, histone H3 acetylation, G2/M transition of mitotic cell cycle, 7 4 14 19 12 24 14 7 12 ENSG00000149476 chr11 61333210 61353295 + TKFC protein_coding This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2017]. 26007 GO:0070062, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, cytosol, cytosol, nucleus, GO:0050354, GO:0046872, GO:0034012, GO:0005524, GO:0005515, GO:0004371, GO:0004371, triokinase activity, metal ion binding, FAD-AMP lyase (cyclizing) activity, ATP binding, protein binding, glycerone kinase activity, glycerone kinase activity, GO:0061624, GO:0046835, GO:0045088, GO:0045087, GO:0044262, GO:0039534, GO:0019563, fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate, carbohydrate phosphorylation, regulation of innate immune response, innate immune response, cellular carbohydrate metabolic process, negative regulation of MDA-5 signaling pathway, glycerol catabolic process, 72 59 55 55 69 41 54 57 72 ENSG00000149480 chr11 62593214 62601840 - MTA2 protein_coding This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacetylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq, May 2011]. 9219 GO:0032991, GO:0016581, GO:0016581, GO:0016020, GO:0005667, GO:0005654, GO:0005654, GO:0005654, GO:0000785, GO:0000118, protein-containing complex, NuRD complex, NuRD complex, membrane, transcription regulator complex, nucleoplasm, nucleoplasm, nucleoplasm, chromatin, histone deacetylase complex, GO:0043565, GO:0042826, GO:0031492, GO:0008270, GO:0005515, GO:0004407, GO:0003714, GO:0003713, GO:0001103, GO:0001103, GO:0001085, sequence-specific DNA binding, histone deacetylase binding, nucleosomal DNA binding, zinc ion binding, protein binding, histone deacetylase activity, transcription corepressor activity, transcription coactivator activity, RNA polymerase II repressing transcription factor binding, RNA polymerase II repressing transcription factor binding, RNA polymerase II transcription factor binding, GO:1901796, GO:0045944, GO:0043044, GO:0016575, GO:0010762, GO:0006333, GO:0006306, GO:0000122, regulation of signal transduction by p53 class mediator, positive regulation of transcription by RNA polymerase II, ATP-dependent chromatin remodeling, histone deacetylation, regulation of fibroblast migration, chromatin assembly or disassembly, DNA methylation, negative regulation of transcription by RNA polymerase II, 167 220 271 297 216 390 281 183 296 ENSG00000149483 chr11 61362001 61369509 + TMEM138 protein_coding This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 51524 GO:0016021, GO:0005929, GO:0005929, GO:0005774, integral component of membrane, cilium, cilium, vacuolar membrane, GO:0060271, cilium assembly, 76 71 58 75 52 95 86 58 63 ENSG00000149485 chr11 61799625 61829318 - FADS1 protein_coding The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]. 3992 GO:0043231, GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005789, GO:0005739, intracellular membrane-bounded organelle, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, mitochondrion, GO:0062076, GO:0045485, GO:0016491, GO:0016213, GO:0000248, acyl-CoA delta5-desaturase activity, omega-6 fatty acid desaturase activity, oxidoreductase activity, linoleoyl-CoA desaturase activity, C-5 sterol desaturase activity, GO:0055114, GO:0046456, GO:0045595, GO:0043651, GO:0042759, GO:0036109, GO:0019216, GO:0009267, GO:0008654, GO:0007267, GO:0006636, GO:0006636, GO:0006355, oxidation-reduction process, icosanoid biosynthetic process, regulation of cell differentiation, linoleic acid metabolic process, long-chain fatty acid biosynthetic process, alpha-linolenic acid metabolic process, regulation of lipid metabolic process, cellular response to starvation, phospholipid biosynthetic process, cell-cell signaling, unsaturated fatty acid biosynthetic process, unsaturated fatty acid biosynthetic process, regulation of transcription, DNA-templated, 8 18 20 18 35 15 13 28 18 ENSG00000149488 chr20 2536607 2641784 + TMC2 protein_coding This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]. 117532 GO:0032426, GO:0005887, GO:0005575, stereocilium tip, integral component of plasma membrane, cellular_component, GO:0008381, GO:0005245, GO:0003674, mechanosensitive ion channel activity, voltage-gated calcium channel activity, molecular_function, GO:1903169, GO:0070588, GO:0060005, GO:0050910, GO:0050910, regulation of calcium ion transmembrane transport, calcium ion transmembrane transport, vestibular reflex, detection of mechanical stimulus involved in sensory perception of sound, detection of mechanical stimulus involved in sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000149489 chr11 62611722 62615120 + ROM1 protein_coding This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]. 6094 GO:0042622, GO:0005887, photoreceptor outer segment membrane, integral component of plasma membrane, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:1903546, GO:0061298, GO:0060219, GO:0051291, GO:0051260, GO:0050908, GO:0035845, GO:0010468, GO:0007601, GO:0007155, protein localization to photoreceptor outer segment, retina vasculature development in camera-type eye, camera-type eye photoreceptor cell differentiation, protein heterooligomerization, protein homooligomerization, detection of light stimulus involved in visual perception, photoreceptor cell outer segment organization, regulation of gene expression, visual perception, cell adhesion, 63 40 43 37 60 89 50 38 30 ENSG00000149499 chr11 62602218 62612765 - EML3 protein_coding 256364 GO:0072686, GO:0005874, GO:0005737, mitotic spindle, microtubule, cytoplasm, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0000226, microtubule cytoskeleton organization, 456 522 517 607 637 599 580 524 422 ENSG00000149503 chr11 62123973 62153163 + INCENP protein_coding In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]. 3619 GO:1990385, GO:0032991, GO:0032133, GO:0030496, GO:0030496, GO:0016604, GO:0010369, GO:0005874, GO:0005829, GO:0005829, GO:0005819, GO:0005721, GO:0005654, GO:0005654, GO:0005634, GO:0000801, GO:0000800, GO:0000793, GO:0000777, GO:0000776, GO:0000776, GO:0000775, meiotic spindle midzone, protein-containing complex, chromosome passenger complex, midbody, midbody, nuclear body, chromocenter, microtubule, cytosol, cytosol, spindle, pericentric heterochromatin, nucleoplasm, nucleoplasm, nucleus, central element, lateral element, condensed chromosome, condensed chromosome kinetochore, kinetochore, kinetochore, chromosome, centromeric region, GO:0043539, GO:0005515, protein serine/threonine kinase activator activity, protein binding, GO:1902412, GO:0071902, GO:0051310, GO:0051257, GO:0016572, GO:0010032, GO:0007059, GO:0000281, GO:0000281, GO:0000070, regulation of mitotic cytokinesis, positive regulation of protein serine/threonine kinase activity, metaphase plate congression, meiotic spindle midzone assembly, histone phosphorylation, meiotic chromosome condensation, chromosome segregation, mitotic cytokinesis, mitotic cytokinesis, mitotic sister chromatid segregation, 89 53 76 53 62 53 84 44 30 ENSG00000149506 chr11 60867562 60875693 + ZP1 protein_coding The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]. 22917 GO:0062023, GO:0035805, GO:0016021, GO:0005886, GO:0005576, collagen-containing extracellular matrix, egg coat, integral component of membrane, plasma membrane, extracellular region, GO:0005515, protein binding, GO:0007339, binding of sperm to zona pellucida, 0 0 0 5 2 0 0 3 0 ENSG00000149507 chr11 60040275 60048044 + OOSP2 protein_coding 219990 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000149516 chr11 60056587 60071128 + MS4A3 protein_coding This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]. 932 GO:0048471, GO:0035579, GO:0016021, GO:0005886, perinuclear region of cytoplasm, specific granule membrane, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0051726, GO:0043312, regulation of cell cycle, neutrophil degranulation, 3 10 10 20 17 19 10 11 7 ENSG00000149527 chr1 2425980 2505530 + PLCH2 protein_coding PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]. 9651 GO:0005886, GO:0005737, GO:0005575, plasma membrane, cytoplasm, cellular_component, GO:0005509, GO:0004435, GO:0004435, calcium ion binding, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:0048015, GO:0048015, GO:0046488, GO:0043647, GO:0016042, phosphatidylinositol-mediated signaling, phosphatidylinositol-mediated signaling, phosphatidylinositol metabolic process, inositol phosphate metabolic process, lipid catabolic process, 1 3 12 5 2 6 7 2 18 ENSG00000149531 chr20 30377372 30399257 + FRG1BP unprocessed_pseudogene 18 26 23 10 20 17 21 8 17 ENSG00000149532 chr11 61402641 61430031 - CPSF7 protein_coding Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]. 79869 GO:0016020, GO:0005849, GO:0005847, GO:0005737, GO:0005654, GO:0005634, membrane, mRNA cleavage factor complex, mRNA cleavage and polyadenylation specificity factor complex, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:1990120, GO:0110104, GO:0098789, GO:0051290, GO:0051262, GO:0031124, GO:0006369, GO:0000398, messenger ribonucleoprotein complex assembly, mRNA alternative polyadenylation, pre-mRNA cleavage required for polyadenylation, protein heterotetramerization, protein tetramerization, mRNA 3'-end processing, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 2635 2717 2896 1794 2177 2000 2067 1544 1505 ENSG00000149534 chr11 60088261 60098466 + MS4A2 protein_coding The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]. 2206 GO:0032998, GO:0009897, GO:0005887, GO:0005886, Fc-epsilon receptor I complex, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019863, GO:0005515, IgE binding, protein binding, GO:0038095, GO:0006955, GO:0006954, Fc-epsilon receptor signaling pathway, immune response, inflammatory response, 2 5 2 10 8 5 10 5 3 ENSG00000149541 chr11 62615296 62622175 - B3GAT3 protein_coding The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]. 26229 GO:0070062, GO:0016021, GO:0016020, GO:0005801, GO:0005794, GO:0000139, GO:0000139, extracellular exosome, integral component of membrane, membrane, cis-Golgi network, Golgi apparatus, Golgi membrane, Golgi membrane, GO:0072542, GO:0046872, GO:0015020, GO:0015020, GO:0015018, GO:0015018, GO:0005515, protein phosphatase activator activity, metal ion binding, glucuronosyltransferase activity, glucuronosyltransferase activity, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity, protein binding, GO:0090316, GO:0050651, GO:0050651, GO:0050650, GO:0050650, GO:0050650, GO:0043666, GO:0043085, GO:0030203, GO:0015012, GO:0015012, GO:0006486, GO:0006024, GO:0006024, GO:0006024, GO:0005975, positive regulation of intracellular protein transport, dermatan sulfate proteoglycan biosynthetic process, dermatan sulfate proteoglycan biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process, regulation of phosphoprotein phosphatase activity, positive regulation of catalytic activity, glycosaminoglycan metabolic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, protein glycosylation, glycosaminoglycan biosynthetic process, glycosaminoglycan biosynthetic process, glycosaminoglycan biosynthetic process, carbohydrate metabolic process, 67 82 85 118 91 127 167 118 102 ENSG00000149547 chr11 125569216 125584687 + EI24 protein_coding This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]. 9538 GO:0031965, GO:0016021, GO:0016020, GO:0005829, GO:0005794, GO:0005789, GO:0005783, GO:0005783, nuclear membrane, integral component of membrane, membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0061676, GO:0005515, importin-alpha family protein binding, protein binding, GO:0030308, GO:0016236, GO:0006915, negative regulation of cell growth, macroautophagy, apoptotic process, 18 16 51 35 14 29 49 19 24 ENSG00000149548 chr11 124954121 125041489 + CCDC15 protein_coding 80071 GO:0005813, GO:0005813, centrosome, centrosome, 10 8 12 23 21 7 16 12 14 ENSG00000149554 chr11 125625136 125676255 + CHEK1 protein_coding The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]. 1111 GO:0043231, GO:0032991, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0000794, GO:0000785, GO:0000781, intracellular membrane-bounded organelle, protein-containing complex, cytosol, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular space, condensed nuclear chromosome, chromatin, chromosome, telomeric region, GO:0106311, GO:0106310, GO:0035402, GO:0019904, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, histone kinase activity (H3-T11 specific), protein domain specific binding, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000615, GO:1901796, GO:0090399, GO:0072425, GO:0071260, GO:0070317, GO:0048096, GO:0046602, GO:0045839, GO:0045787, GO:0035556, GO:0035407, GO:0018107, GO:0010767, GO:0010569, GO:0007049, GO:0006975, GO:0006974, GO:0006915, GO:0006468, GO:0006281, GO:0006260, GO:0000077, GO:0000077, regulation of histone H3-K9 acetylation, regulation of signal transduction by p53 class mediator, replicative senescence, signal transduction involved in G2 DNA damage checkpoint, cellular response to mechanical stimulus, negative regulation of G0 to G1 transition, chromatin-mediated maintenance of transcription, regulation of mitotic centrosome separation, negative regulation of mitotic nuclear division, positive regulation of cell cycle, intracellular signal transduction, histone H3-T11 phosphorylation, peptidyl-threonine phosphorylation, regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage, regulation of double-strand break repair via homologous recombination, cell cycle, DNA damage induced protein phosphorylation, cellular response to DNA damage stimulus, apoptotic process, protein phosphorylation, DNA repair, DNA replication, DNA damage checkpoint, DNA damage checkpoint, 8 7 10 31 17 12 23 7 26 ENSG00000149557 chr11 125442881 125592568 - FEZ1 protein_coding This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]. 9638 GO:0043025, GO:0030426, GO:0030425, GO:0030424, GO:0005886, GO:0005874, GO:0005813, GO:0005794, GO:0005739, GO:0005737, neuronal cell body, growth cone, dendrite, axon, plasma membrane, microtubule, centrosome, Golgi apparatus, mitochondrion, cytoplasm, GO:0047485, GO:0043015, GO:0005515, GO:0005080, protein N-terminus binding, gamma-tubulin binding, protein binding, protein kinase C binding, GO:1902902, GO:0071363, GO:0070584, GO:0061881, GO:0051654, GO:0030010, GO:0021766, GO:0010976, GO:0007411, GO:0007399, GO:0007155, negative regulation of autophagosome assembly, cellular response to growth factor stimulus, mitochondrion morphogenesis, positive regulation of anterograde axonal transport of mitochondrion, establishment of mitochondrion localization, establishment of cell polarity, hippocampus development, positive regulation of neuron projection development, axon guidance, nervous system development, cell adhesion, 2 1 12 11 0 12 10 6 0 ENSG00000149564 chr11 124752583 124762290 - ESAM protein_coding 90952 GO:0032991, GO:0016021, GO:0005923, GO:0005912, GO:0005911, GO:0005886, GO:0005886, protein-containing complex, integral component of membrane, bicellular tight junction, adherens junction, cell-cell junction, plasma membrane, plasma membrane, GO:0098632, GO:0005515, cell-cell adhesion mediator activity, protein binding, GO:2000249, GO:0098609, GO:0070830, GO:0050900, GO:0035633, GO:0034613, GO:0030833, GO:0007156, regulation of actin cytoskeleton reorganization, cell-cell adhesion, bicellular tight junction assembly, leukocyte migration, maintenance of blood-brain barrier, cellular protein localization, regulation of actin filament polymerization, homophilic cell adhesion via plasma membrane adhesion molecules, 2 6 1 11 9 10 2 0 8 ENSG00000149571 chr11 126423359 127003460 - KIRREL3 protein_coding The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 84623 GO:0043198, GO:0030425, GO:0030424, GO:0016021, GO:0008021, GO:0005911, GO:0005887, GO:0005886, GO:0005576, dendritic shaft, dendrite, axon, integral component of membrane, synaptic vesicle, cell-cell junction, integral component of plasma membrane, plasma membrane, extracellular region, GO:0050839, GO:0005515, cell adhesion molecule binding, protein binding, GO:0098609, GO:0072102, GO:0048812, GO:0030097, GO:0021766, GO:0021740, GO:0007416, GO:0007416, GO:0007156, GO:0002121, GO:0001764, cell-cell adhesion, glomerulus morphogenesis, neuron projection morphogenesis, hemopoiesis, hippocampus development, principal sensory nucleus of trigeminal nerve development, synapse assembly, synapse assembly, homophilic cell adhesion via plasma membrane adhesion molecules, inter-male aggressive behavior, neuron migration, 12 16 23 15 24 34 48 34 38 ENSG00000149573 chr11 118253403 118264536 - MPZL2 protein_coding Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 10205 GO:0016021, GO:0005856, integral component of membrane, cytoskeleton, GO:0005515, protein binding, GO:0009653, GO:0007156, anatomical structure morphogenesis, homophilic cell adhesion via plasma membrane adhesion molecules, 182 95 233 35 65 65 54 55 29 ENSG00000149575 chr11 118161951 118176673 - SCN2B protein_coding The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]. 6327 GO:0045202, GO:0001518, GO:0001518, synapse, voltage-gated sodium channel complex, voltage-gated sodium channel complex, GO:0086006, GO:0017080, GO:0005244, voltage-gated sodium channel activity involved in cardiac muscle cell action potential, sodium channel regulator activity, voltage-gated ion channel activity, GO:2000649, GO:0086091, GO:0086012, GO:0086002, GO:0060371, GO:0060048, GO:0046684, GO:0035725, GO:0007399, GO:0007268, regulation of sodium ion transmembrane transporter activity, regulation of heart rate by cardiac conduction, membrane depolarization during cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, regulation of atrial cardiac muscle cell membrane depolarization, cardiac muscle contraction, response to pyrethroid, sodium ion transmembrane transport, nervous system development, chemical synaptic transmission, 0 2 2 0 5 0 13 0 0 ENSG00000149577 chr11 117178733 117197445 + SIDT2 protein_coding 51092 GO:0016021, GO:0005886, GO:0005886, GO:0005765, GO:0005764, GO:0005764, integral component of membrane, plasma membrane, plasma membrane, lysosomal membrane, lysosome, lysosome, GO:0051033, GO:0051032, GO:0035650, GO:0035612, GO:0003725, GO:0003677, RNA transmembrane transporter activity, nucleic acid transmembrane transporter activity, AP-1 adaptor complex binding, AP-2 adaptor complex binding, double-stranded RNA binding, DNA binding, GO:0061178, GO:0050658, GO:0050658, GO:0044342, GO:0042593, GO:0009749, GO:0006401, GO:0003323, GO:0000902, regulation of insulin secretion involved in cellular response to glucose stimulus, RNA transport, RNA transport, type B pancreatic cell proliferation, glucose homeostasis, response to glucose, RNA catabolic process, type B pancreatic cell development, cell morphogenesis, 234 356 319 238 327 265 295 292 207 ENSG00000149582 chr11 118531041 118547280 + TMEM25 protein_coding 84866 GO:0016021, GO:0005886, GO:0005770, GO:0005764, GO:0005576, integral component of membrane, plasma membrane, late endosome, lysosome, extracellular region, GO:0005515, protein binding, GO:0090394, GO:0090394, GO:0031647, negative regulation of excitatory postsynaptic potential, negative regulation of excitatory postsynaptic potential, regulation of protein stability, 4 6 4 8 3 12 12 7 5 ENSG00000149591 chr11 117199321 117204782 + TAGLN protein_coding This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization. [provided by RefSeq, Aug 2017]. 6876 GO:0005737, cytoplasm, GO:0051015, GO:0005515, actin filament binding, protein binding, GO:0030855, GO:0007517, epithelial cell differentiation, muscle organ development, 88 170 95 167 296 200 228 228 153 ENSG00000149596 chr20 44111695 44187578 - JPH2 protein_coding Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]. 57158 GO:0030314, GO:0030018, GO:0016529, GO:0016021, GO:0014701, GO:0005886, GO:0005789, GO:0005634, junctional membrane complex, Z disc, sarcoplasmic reticulum, integral component of membrane, junctional sarcoplasmic reticulum membrane, plasma membrane, endoplasmic reticulum membrane, nucleus, GO:0080025, GO:0070300, GO:0070273, GO:0032266, GO:0010314, GO:0005547, GO:0005546, GO:0005515, GO:0003677, GO:0001786, phosphatidylinositol-3,5-bisphosphate binding, phosphatidic acid binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, DNA binding, phosphatidylserine binding, GO:0060402, GO:0060316, GO:0060314, GO:0055074, GO:0055024, GO:0007275, calcium ion transport into cytosol, positive regulation of ryanodine-sensitive calcium-release channel activity, regulation of ryanodine-sensitive calcium-release channel activity, calcium ion homeostasis, regulation of cardiac muscle tissue development, multicellular organism development, 0 0 0 0 5 0 1 0 0 ENSG00000149599 chr20 31847637 31870747 - DUSP15 protein_coding The protein encoded by this gene has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. This protein may function in the differentiation of oligodendrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 128853 GO:0005886, GO:0005829, GO:0005829, plasma membrane, cytosol, cytosol, GO:0106307, GO:0106306, GO:0016791, GO:0008138, GO:0005515, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, GO:0046330, GO:0042127, GO:0035335, GO:0016311, GO:0007179, positive regulation of JNK cascade, regulation of cell population proliferation, peptidyl-tyrosine dephosphorylation, dephosphorylation, transforming growth factor beta receptor signaling pathway, 0 0 0 2 0 0 0 0 0 ENSG00000149600 chr20 32702691 32743997 - COMMD7 protein_coding 149951 GO:0031410, cytoplasmic vesicle, GO:0051059, GO:0051059, GO:0005515, NF-kappaB binding, NF-kappaB binding, protein binding, GO:0045892, GO:0045892, GO:0033209, GO:0033209, GO:0032088, GO:0032088, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, 23 15 33 36 28 39 34 17 39 ENSG00000149609 chr20 33662284 33665619 + C20orf144 protein_coding 128864 0 1 3 2 2 0 0 0 0 ENSG00000149633 chr20 38210488 38260772 - KIAA1755 protein_coding 85449 0 1 2 0 0 0 0 0 0 ENSG00000149634 chr20 45886489 45887635 - SPATA25 protein_coding 128497 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0030154, GO:0007283, GO:0007283, cell differentiation, spermatogenesis, spermatogenesis, 1 1 0 14 20 29 4 10 10 ENSG00000149635 chr20 46540946 46550574 - OCSTAMP protein_coding The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017]. 128506 GO:0016021, integral component of membrane, GO:0090290, GO:0072674, GO:0071391, GO:0071356, GO:0045672, GO:0034241, positive regulation of osteoclast proliferation, multinuclear osteoclast differentiation, cellular response to estrogen stimulus, cellular response to tumor necrosis factor, positive regulation of osteoclast differentiation, positive regulation of macrophage fusion, 0 0 0 0 0 0 0 0 0 ENSG00000149636 chr20 36751791 36773818 - DSN1 protein_coding This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]. 79980 GO:0035578, GO:0016604, GO:0005829, GO:0005829, GO:0005730, GO:0005654, GO:0005576, GO:0001650, GO:0000941, GO:0000818, GO:0000777, GO:0000444, azurophil granule lumen, nuclear body, cytosol, cytosol, nucleolus, nucleoplasm, extracellular region, fibrillar center, condensed nuclear chromosome inner kinetochore, nuclear MIS12/MIND complex, condensed chromosome kinetochore, MIS12/MIND type complex, GO:0005515, protein binding, GO:0051301, GO:0043312, GO:0000070, cell division, neutrophil degranulation, mitotic sister chromatid segregation, 101 110 113 115 126 88 99 88 85 ENSG00000149639 chr20 36777442 36863686 - SOGA1 protein_coding 140710 GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, GO:0003674, molecular_function, GO:0045721, GO:0010506, GO:0008286, GO:0008286, negative regulation of gluconeogenesis, regulation of autophagy, insulin receptor signaling pathway, insulin receptor signaling pathway, 6 5 21 15 19 18 20 8 17 ENSG00000149646 chr20 35954564 36030700 + CNBD2 protein_coding 140894 GO:0005829, cytosol, GO:0030552, cAMP binding, GO:0007283, spermatogenesis, 7 4 16 17 13 28 12 14 7 ENSG00000149651 chr20 45722351 45725830 + SPINT4 protein_coding 391253 GO:0005576, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 1 0 0 0 0 0 ENSG00000149654 chr20 46173733 46308498 - CDH22 protein_coding This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]. 64405 GO:0016342, GO:0016021, GO:0005912, catenin complex, integral component of membrane, adherens junction, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0034332, GO:0016339, GO:0007420, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, brain development, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000149656 chr20 64290385 64313132 + LINC00266-1 lincRNA 0 5 1 0 0 0 3 6 1 ENSG00000149657 chr20 62122461 62135378 + LSM14B protein_coding 149986 GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0007275, GO:0006417, multicellular organism development, regulation of translation, 362 468 440 253 369 336 259 335 274 ENSG00000149658 chr20 63195429 63216234 - YTHDF1 protein_coding 54915 GO:0005737, cytoplasm, GO:1990247, GO:1990247, GO:0043022, GO:0005515, GO:0003729, GO:0003723, N6-methyladenosine-containing RNA binding, N6-methyladenosine-containing RNA binding, ribosome binding, protein binding, mRNA binding, RNA binding, GO:1902667, GO:1900271, GO:0061157, GO:0045948, GO:0045948, GO:0045727, GO:0007613, GO:0007612, GO:0002577, GO:0002376, regulation of axon guidance, regulation of long-term synaptic potentiation, mRNA destabilization, positive regulation of translational initiation, positive regulation of translational initiation, positive regulation of translation, memory, learning, regulation of antigen processing and presentation, immune system process, 340 333 419 208 258 333 293 267 349 ENSG00000149679 chr20 62388632 62407285 - CABLES2 protein_coding 81928 GO:0051726, GO:0051301, GO:0007049, regulation of cell cycle, cell division, cell cycle, 94 78 147 116 103 147 90 63 116 ENSG00000149716 chr11 69653076 69675416 - LTO1 protein_coding 220064 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0106035, GO:0042273, GO:0006413, GO:0000723, protein maturation by [4Fe-4S] cluster transfer, ribosomal large subunit biogenesis, translational initiation, telomere maintenance, 74 73 86 96 96 91 78 75 78 ENSG00000149735 chr11 64934471 64935888 - GPHA2 protein_coding GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]. 170589 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0051427, GO:0046982, GO:0031531, GO:0031531, GO:0005515, GO:0005179, hormone receptor binding, protein heterodimerization activity, thyrotropin-releasing hormone receptor binding, thyrotropin-releasing hormone receptor binding, protein binding, hormone activity, GO:0007189, GO:0007186, GO:0007166, GO:0007166, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cell surface receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000149742 chr11 63369789 63410294 + SLC22A9 protein_coding 114571 GO:0016323, GO:0016021, basolateral plasma membrane, integral component of membrane, GO:0015636, GO:0015347, GO:0015301, short-chain fatty acid transmembrane transporter activity, sodium-independent organic anion transmembrane transporter activity, anion:anion antiporter activity, GO:0098656, GO:0043252, GO:0015913, GO:0015711, GO:0009914, anion transmembrane transport, sodium-independent organic anion transport, short-chain fatty acid import, organic anion transport, hormone transport, 0 0 0 2 0 0 0 0 0 ENSG00000149743 chr11 64223799 64226254 - TRPT1 protein_coding 83707 GO:0003950, GO:0003674, GO:0000215, NAD+ ADP-ribosyltransferase activity, molecular_function, tRNA 2'-phosphotransferase activity, GO:0045859, GO:0008150, GO:0008033, GO:0006388, regulation of protein kinase activity, biological_process, tRNA processing, tRNA splicing, via endonucleolytic cleavage and ligation, 74 87 85 88 104 108 75 96 89 ENSG00000149761 chr11 64225941 64230686 + NUDT22 protein_coding 84304 GO:0005654, nucleoplasm, GO:0052751, GO:0046872, GO:0008768, GO:0005515, GDP-mannose hydrolase activity, metal ion binding, UDP-sugar diphosphatase activity, protein binding, 176 149 139 148 158 154 97 141 103 ENSG00000149781 chr11 64206678 64223886 + FERMT3 protein_coding Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]. 83706 GO:0070062, GO:0042995, GO:0031093, GO:0030055, GO:0016020, GO:0005576, GO:0002102, extracellular exosome, cell projection, platelet alpha granule lumen, cell-substrate junction, membrane, extracellular region, podosome, GO:0005178, GO:0005178, integrin binding, integrin binding, GO:0070527, GO:0070527, GO:0070527, GO:0034446, GO:0033632, GO:0033632, GO:0033622, GO:0033622, GO:0033622, GO:0030335, GO:0007229, GO:0007160, GO:0007159, GO:0007159, GO:0002576, platelet aggregation, platelet aggregation, platelet aggregation, substrate adhesion-dependent cell spreading, regulation of cell-cell adhesion mediated by integrin, regulation of cell-cell adhesion mediated by integrin, integrin activation, integrin activation, integrin activation, positive regulation of cell migration, integrin-mediated signaling pathway, cell-matrix adhesion, leukocyte cell-cell adhesion, leukocyte cell-cell adhesion, platelet degranulation, 3017 2890 4523 2411 2525 3327 2520 2339 2611 ENSG00000149782 chr11 64251523 64269150 + PLCB3 protein_coding This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 5331 GO:0099524, GO:0032991, GO:0016020, GO:0005829, GO:0005654, postsynaptic cytosol, protein-containing complex, membrane, cytosol, nucleoplasm, GO:0045296, GO:0005516, GO:0005516, GO:0005515, GO:0005509, GO:0004629, GO:0004435, GO:0004435, cadherin binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:0048015, GO:0046488, GO:0043647, GO:0016042, GO:0007223, GO:0007186, GO:0003073, phosphatidylinositol-mediated signaling, phosphatidylinositol metabolic process, inositol phosphate metabolic process, lipid catabolic process, Wnt signaling pathway, calcium modulating pathway, G protein-coupled receptor signaling pathway, regulation of systemic arterial blood pressure, 102 82 141 58 84 60 112 69 65 ENSG00000149792 chr11 65122183 65127371 + MRPL49 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]. 740 GO:0005762, GO:0005762, GO:0005761, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, protein binding, structural constituent of ribosome, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 209 173 233 95 111 100 106 127 90 ENSG00000149798 chr11 65314818 65322429 + CDC42EP2 protein_coding CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]. 10435 GO:0045335, GO:0016020, GO:0015630, GO:0012505, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005737, phagocytic vesicle, membrane, microtubule cytoskeleton, endomembrane system, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, cytoplasm, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0001515, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, opioid peptide activity, GO:0071346, GO:0043547, GO:0031334, GO:0031274, GO:0031274, GO:0030838, GO:0030838, GO:0030036, GO:0008360, GO:0008360, GO:0007266, GO:0007015, cellular response to interferon-gamma, positive regulation of GTPase activity, positive regulation of protein-containing complex assembly, positive regulation of pseudopodium assembly, positive regulation of pseudopodium assembly, positive regulation of actin filament polymerization, positive regulation of actin filament polymerization, actin cytoskeleton organization, regulation of cell shape, regulation of cell shape, Rho protein signal transduction, actin filament organization, 6 5 7 8 1 4 0 0 0 ENSG00000149806 chr11 65120628 65122473 - FAU protein_coding This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014]. 2197 GO:0005575, cellular_component, GO:0003723, RNA binding, GO:0008150, biological_process, 1762 1629 1909 2223 2851 2588 1745 1886 1745 ENSG00000149809 chr11 65111845 65116384 + TM7SF2 protein_coding 7108 GO:0043235, GO:0043231, GO:0030176, GO:0005887, GO:0005789, GO:0005783, GO:0005637, receptor complex, intracellular membrane-bounded organelle, integral component of endoplasmic reticulum membrane, integral component of plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear inner membrane, GO:0050661, GO:0050613, GO:0050613, GO:0016627, GO:0005515, NADP binding, delta14-sterol reductase activity, delta14-sterol reductase activity, oxidoreductase activity, acting on the CH-CH group of donors, protein binding, GO:0055114, GO:0045540, GO:0016126, GO:0006695, GO:0006695, GO:0006695, oxidation-reduction process, regulation of cholesterol biosynthetic process, sterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, 10 11 16 26 21 42 24 12 6 ENSG00000149823 chr11 65089324 65111860 + VPS51 protein_coding This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 738 GO:1990745, GO:1990745, GO:0055037, GO:0043231, GO:0032588, GO:0016021, GO:0016020, GO:0016020, GO:0005829, GO:0005794, GO:0005730, GO:0000938, GO:0000938, EARP complex, EARP complex, recycling endosome, intracellular membrane-bounded organelle, trans-Golgi network membrane, integral component of membrane, membrane, membrane, cytosol, Golgi apparatus, nucleolus, GARP complex, GARP complex, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0048193, GO:0042147, GO:0042147, GO:0042147, GO:0032456, GO:0032456, GO:0015031, GO:0007041, GO:0007041, GO:0007030, GO:0006914, GO:0006869, Golgi vesicle transport, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, endocytic recycling, endocytic recycling, protein transport, lysosomal transport, lysosomal transport, Golgi organization, autophagy, lipid transport, 231 259 375 393 383 467 393 250 448 ENSG00000149922 chr16 30085793 30091887 - TBX6 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]. 6911 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003677, GO:0001102, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA binding, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0043433, GO:0032525, GO:0023019, GO:0014043, GO:0010977, GO:0009653, GO:0008284, GO:0007498, GO:0007417, GO:0006357, GO:0003205, GO:0001947, GO:0001708, GO:0000122, negative regulation of DNA-binding transcription factor activity, somite rostral/caudal axis specification, signal transduction involved in regulation of gene expression, negative regulation of neuron maturation, negative regulation of neuron projection development, anatomical structure morphogenesis, positive regulation of cell population proliferation, mesoderm development, central nervous system development, regulation of transcription by RNA polymerase II, cardiac chamber development, heart looping, cell fate specification, negative regulation of transcription by RNA polymerase II, 4 6 5 4 4 10 10 7 22 ENSG00000149923 chr16 30075978 30085377 + PPP4C protein_coding 5531 GO:0030289, GO:0005886, GO:0005829, GO:0005815, GO:0005654, GO:0005654, protein phosphatase 4 complex, plasma membrane, cytosol, microtubule organizing center, nucleoplasm, nucleoplasm, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004722, GO:0004722, GO:0004704, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, NF-kappaB-inducing kinase activity, GO:0038061, GO:0010569, GO:0006470, NIK/NF-kappaB signaling, regulation of double-strand break repair via homologous recombination, protein dephosphorylation, 2153 1930 2280 1580 2226 1768 1704 1737 1570 ENSG00000149925 chr16 30064164 30070457 + ALDOA protein_coding This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]. 226 GO:1904813, GO:1904724, GO:0070062, GO:0070062, GO:0061827, GO:0034774, GO:0031674, GO:0031430, GO:0031093, GO:0016020, GO:0015629, GO:0005829, GO:0005829, GO:0005829, GO:0005634, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, extracellular exosome, sperm head, secretory granule lumen, I band, M band, platelet alpha granule lumen, membrane, actin cytoskeleton, cytosol, cytosol, cytosol, nucleus, extracellular space, extracellular region, GO:0070061, GO:0045296, GO:0042802, GO:0015631, GO:0008092, GO:0005515, GO:0004332, GO:0004332, GO:0003779, GO:0003723, fructose binding, cadherin binding, identical protein binding, tubulin binding, cytoskeletal protein binding, protein binding, fructose-bisphosphate aldolase activity, fructose-bisphosphate aldolase activity, actin binding, RNA binding, GO:0061621, GO:0051289, GO:0046716, GO:0043312, GO:0030388, GO:0030388, GO:0008360, GO:0007339, GO:0007015, GO:0006941, GO:0006754, GO:0006096, GO:0006096, GO:0006094, GO:0006000, GO:0002576, canonical glycolysis, protein homotetramerization, muscle cell cellular homeostasis, neutrophil degranulation, fructose 1,6-bisphosphate metabolic process, fructose 1,6-bisphosphate metabolic process, regulation of cell shape, binding of sperm to zona pellucida, actin filament organization, striated muscle contraction, ATP biosynthetic process, glycolytic process, glycolytic process, gluconeogenesis, fructose metabolic process, platelet degranulation, 40 46 60 167 234 177 79 93 100 ENSG00000149926 chr16 30024427 30052978 - FAM57B protein_coding This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 83723 GO:0016021, GO:0005789, GO:0005783, GO:0005783, GO:0000139, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0050291, GO:0050291, sphingosine N-acyltransferase activity, sphingosine N-acyltransferase activity, GO:0055088, GO:0046513, GO:0046513, GO:0045599, lipid homeostasis, ceramide biosynthetic process, ceramide biosynthetic process, negative regulation of fat cell differentiation, 0 0 0 0 0 0 1 0 0 ENSG00000149927 chr16 30005509 30023270 - DOC2A protein_coding There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 8448 GO:0098850, GO:0043005, GO:0030054, GO:0005764, GO:0005730, GO:0005654, extrinsic component of synaptic vesicle membrane, neuron projection, cell junction, lysosome, nucleolus, nucleoplasm, GO:0005544, GO:0005515, GO:0005509, calcium-dependent phospholipid binding, protein binding, calcium ion binding, GO:0061669, GO:0017158, GO:0016079, GO:0007399, GO:0007268, spontaneous neurotransmitter secretion, regulation of calcium ion-dependent exocytosis, synaptic vesicle exocytosis, nervous system development, chemical synaptic transmission, 25 33 34 36 42 39 29 33 13 ENSG00000149929 chr16 29992321 29996436 - HIRIP3 protein_coding The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011]. 8479 GO:0005730, GO:0005654, GO:0005634, GO:0005634, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0006333, chromatin assembly or disassembly, 47 43 69 77 45 125 95 84 67 ENSG00000149930 chr16 29973641 29992261 + TAOK2 protein_coding This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 9344 GO:0044295, GO:0044294, GO:0043235, GO:0043005, GO:0031410, GO:0030659, GO:0030424, GO:0016021, GO:0015629, GO:0005829, GO:0005737, GO:0005730, GO:0005654, axonal growth cone, dendritic growth cone, receptor complex, neuron projection, cytoplasmic vesicle, cytoplasmic vesicle membrane, axon, integral component of membrane, actin cytoskeleton, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:0106311, GO:0106310, GO:0050321, GO:0048156, GO:0038191, GO:0031434, GO:0005524, GO:0005515, GO:0004709, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, tau protein binding, neuropilin binding, mitogen-activated protein kinase kinase binding, ATP binding, protein binding, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0150020, GO:0150019, GO:0051403, GO:0048812, GO:0048041, GO:0046777, GO:0046330, GO:0046330, GO:0032956, GO:0032874, GO:0032147, GO:0032147, GO:0031954, GO:0031098, GO:0030036, GO:0023014, GO:0016477, GO:0008360, GO:0007409, GO:0007409, GO:0007095, GO:0006974, GO:0006915, GO:0006612, GO:0001558, GO:0000187, GO:0000186, GO:0000165, basal dendrite arborization, basal dendrite morphogenesis, stress-activated MAPK cascade, neuron projection morphogenesis, focal adhesion assembly, protein autophosphorylation, positive regulation of JNK cascade, positive regulation of JNK cascade, regulation of actin cytoskeleton organization, positive regulation of stress-activated MAPK cascade, activation of protein kinase activity, activation of protein kinase activity, positive regulation of protein autophosphorylation, stress-activated protein kinase signaling cascade, actin cytoskeleton organization, signal transduction by protein phosphorylation, cell migration, regulation of cell shape, axonogenesis, axonogenesis, mitotic G2 DNA damage checkpoint, cellular response to DNA damage stimulus, apoptotic process, protein targeting to membrane, regulation of cell growth, activation of MAPK activity, activation of MAPKK activity, MAPK cascade, 410 469 464 342 526 398 401 390 284 ENSG00000149932 chr16 29940885 29973052 + TMEM219 protein_coding 124446 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0042981, GO:0006915, regulation of apoptotic process, apoptotic process, 207 250 223 146 169 133 83 160 106 ENSG00000149948 chr12 65824131 65966295 + HMGA2 protein_coding This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 8091 GO:0071141, GO:0035985, GO:0032993, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000228, SMAD protein complex, senescence-associated heterochromatin focus, protein-DNA complex, nucleoplasm, nucleus, nucleus, nucleus, nuclear chromosome, GO:0070742, GO:0051575, GO:0046332, GO:0035501, GO:0035500, GO:0035497, GO:0031492, GO:0008301, GO:0008301, GO:0008134, GO:0005515, GO:0003906, GO:0003714, GO:0003712, GO:0003680, GO:0003680, GO:0000976, C2H2 zinc finger domain binding, 5'-deoxyribose-5-phosphate lyase activity, SMAD binding, MH1 domain binding, MH2 domain binding, cAMP response element binding, nucleosomal DNA binding, DNA binding, bending, DNA binding, bending, transcription factor binding, protein binding, DNA-(apurinic or apyrimidinic site) endonuclease activity, transcription corepressor activity, transcription coregulator activity, minor groove of adenine-thymine-rich DNA binding, minor groove of adenine-thymine-rich DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001038, GO:2001033, GO:2001022, GO:2000774, GO:2000773, GO:2000685, GO:2000648, GO:2000648, GO:2000036, GO:2000036, GO:0090402, GO:0071902, GO:0071864, GO:0071158, GO:0051301, GO:0048863, GO:0048762, GO:0048333, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045869, GO:0045766, GO:0045444, GO:0043922, GO:0043392, GO:0043392, GO:0043066, GO:0043065, GO:0042769, GO:0040008, GO:0035988, GO:0035987, GO:0035986, GO:0035978, GO:0031507, GO:0031052, GO:0030261, GO:0010628, GO:0010564, GO:0009615, GO:0007275, GO:0007095, GO:0006355, GO:0006355, GO:0006325, GO:0006284, GO:0003131, GO:0002062, GO:0001837, GO:0000122, regulation of cellular response to drug, negative regulation of double-strand break repair via nonhomologous end joining, positive regulation of response to DNA damage stimulus, positive regulation of cellular senescence, negative regulation of cellular senescence, positive regulation of cellular response to X-ray, positive regulation of stem cell proliferation, positive regulation of stem cell proliferation, regulation of stem cell population maintenance, regulation of stem cell population maintenance, oncogene-induced cell senescence, positive regulation of protein serine/threonine kinase activity, positive regulation of cell proliferation in bone marrow, positive regulation of cell cycle arrest, cell division, stem cell differentiation, mesenchymal cell differentiation, mesodermal cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, positive regulation of angiogenesis, fat cell differentiation, negative regulation by host of viral transcription, negative regulation of DNA binding, negative regulation of DNA binding, negative regulation of apoptotic process, positive regulation of apoptotic process, DNA damage response, detection of DNA damage, regulation of growth, chondrocyte proliferation, endodermal cell differentiation, senescence-associated heterochromatin focus assembly, histone H2A-S139 phosphorylation, heterochromatin assembly, chromosome breakage, chromosome condensation, positive regulation of gene expression, regulation of cell cycle process, response to virus, multicellular organism development, mitotic G2 DNA damage checkpoint, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, chromatin organization, base-excision repair, mesodermal-endodermal cell signaling, chondrocyte differentiation, epithelial to mesenchymal transition, negative regulation of transcription by RNA polymerase II, 0 1 0 0 0 0 0 0 6 ENSG00000149968 chr11 102835801 102843803 - MMP3 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]. 4314 GO:0031012, GO:0005615, GO:0005576, extracellular matrix, extracellular space, extracellular region, GO:0008270, GO:0008237, GO:0008233, GO:0005515, GO:0004252, GO:0004222, GO:0004175, zinc ion binding, metallopeptidase activity, peptidase activity, protein binding, serine-type endopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:1904645, GO:1903209, GO:0150077, GO:0071732, GO:0071492, GO:0031334, GO:0030574, GO:0030574, GO:0030198, GO:0022617, GO:0019221, GO:0010727, GO:0006508, response to amyloid-beta, positive regulation of oxidative stress-induced cell death, regulation of neuroinflammatory response, cellular response to nitric oxide, cellular response to UV-A, positive regulation of protein-containing complex assembly, collagen catabolic process, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, cytokine-mediated signaling pathway, negative regulation of hydrogen peroxide metabolic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000149970 chrX 21372801 21654695 + CNKSR2 protein_coding This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 22866 GO:0070062, GO:0014069, GO:0005886, GO:0005737, extracellular exosome, postsynaptic density, plasma membrane, cytoplasm, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0035556, GO:0009966, intracellular signal transduction, regulation of signal transduction, 7 10 9 32 0 20 5 0 11 ENSG00000149972 chr11 99020953 100358885 + CNTN5 protein_coding The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 53942 GO:0098982, GO:0031225, GO:0005886, GO:0005576, GABA-ergic synapse, anchored component of membrane, plasma membrane, extracellular region, GO:0099054, GO:0007605, GO:0007155, presynapse assembly, sensory perception of sound, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000150045 chr12 9827481 9845007 + KLRF1 protein_coding KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]. 51348 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0032393, GO:0030246, GO:0004888, MHC class I receptor activity, carbohydrate binding, transmembrane signaling receptor activity, GO:0050776, GO:0007166, regulation of immune response, cell surface receptor signaling pathway, 5 11 34 52 44 70 36 40 100 ENSG00000150048 chr12 10069554 10111627 - CLEC1A protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 51267 GO:0005887, GO:0005622, integral component of plasma membrane, intracellular anatomical structure, GO:0030246, GO:0005515, GO:0004888, carbohydrate binding, protein binding, transmembrane signaling receptor activity, GO:0007166, GO:0006952, cell surface receptor signaling pathway, defense response, 24 41 27 65 99 70 86 49 48 ENSG00000150051 chr10 27672875 27746060 - MKX protein_coding The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011]. 283078 GO:0005634, GO:0000785, nucleus, chromatin, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048468, GO:0007517, GO:0007517, GO:0006357, cell development, muscle organ development, muscle organ development, regulation of transcription by RNA polymerase II, 1 0 1 0 2 0 0 1 0 ENSG00000150054 chr10 28050993 28334486 - MPP7 protein_coding The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 143098 GO:0097025, GO:0030054, GO:0005923, GO:0005912, GO:0005654, MPP7-DLG1-LIN7 complex, cell junction, bicellular tight junction, adherens junction, nucleoplasm, GO:0060090, GO:0045296, GO:0035591, GO:0035591, GO:0019904, GO:0005515, molecular adaptor activity, cadherin binding, signaling adaptor activity, signaling adaptor activity, protein domain specific binding, protein binding, GO:0071896, GO:0070830, GO:0031334, GO:0031334, GO:0030010, protein localization to adherens junction, bicellular tight junction assembly, positive regulation of protein-containing complex assembly, positive regulation of protein-containing complex assembly, establishment of cell polarity, 678 569 436 359 574 306 484 456 248 ENSG00000150093 chr10 32900319 33005792 - ITGB1 protein_coding Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3688 GO:0099699, GO:0098978, GO:0097386, GO:0071438, GO:0070062, GO:0055037, GO:0048471, GO:0045121, GO:0043235, GO:0043197, GO:0042470, GO:0042383, GO:0035748, GO:0034681, GO:0034680, GO:0034678, GO:0034677, GO:0034674, GO:0034668, GO:0034667, GO:0034666, GO:0034665, GO:0032587, GO:0032587, GO:0032154, GO:0031594, GO:0030175, GO:0030027, GO:0016020, GO:0014704, GO:0009986, GO:0009986, GO:0009986, GO:0009897, GO:0008305, GO:0005925, GO:0005925, GO:0005925, GO:0005925, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0001726, integral component of synaptic membrane, glutamatergic synapse, glial cell projection, invadopodium membrane, extracellular exosome, recycling endosome, perinuclear region of cytoplasm, membrane raft, receptor complex, dendritic spine, melanosome, sarcolemma, myelin sheath abaxonal region, integrin alpha11-beta1 complex, integrin alpha10-beta1 complex, integrin alpha8-beta1 complex, integrin alpha7-beta1 complex, integrin alpha5-beta1 complex, integrin alpha4-beta1 complex, integrin alpha3-beta1 complex, integrin alpha2-beta1 complex, integrin alpha1-beta1 complex, ruffle membrane, ruffle membrane, cleavage furrow, neuromuscular junction, filopodium, lamellipodium, membrane, intercalated disc, cell surface, cell surface, cell surface, external side of plasma membrane, integrin complex, focal adhesion, focal adhesion, focal adhesion, focal adhesion, plasma membrane, plasma membrane, plasma membrane, cytoplasm, ruffle, GO:1990782, GO:0098639, GO:0098639, GO:0050839, GO:0046982, GO:0046872, GO:0045296, GO:0044877, GO:0043236, GO:0019960, GO:0019960, GO:0015026, GO:0005515, GO:0005178, GO:0005178, GO:0003779, GO:0002020, GO:0001968, GO:0001968, GO:0001968, GO:0001618, protein tyrosine kinase binding, collagen binding involved in cell-matrix adhesion, collagen binding involved in cell-matrix adhesion, cell adhesion molecule binding, protein heterodimerization activity, metal ion binding, cadherin binding, protein-containing complex binding, laminin binding, C-X3-C chemokine binding, C-X3-C chemokine binding, coreceptor activity, protein binding, integrin binding, integrin binding, actin binding, protease binding, fibronectin binding, fibronectin binding, fibronectin binding, virus receptor activity, GO:2000811, GO:2000273, GO:1903078, GO:1901979, GO:0150103, GO:0150003, GO:0090303, GO:0071711, GO:0071404, GO:0055007, GO:0051951, GO:0051897, GO:0051726, GO:0050901, GO:0050900, GO:0050776, GO:0048813, GO:0048675, GO:0048333, GO:0046718, GO:0045766, GO:0045596, GO:0045214, GO:0043547, GO:0043149, GO:0043065, GO:0035633, GO:0035024, GO:0034113, GO:0033631, GO:0033627, GO:0033627, GO:0033627, GO:0031623, GO:0031589, GO:0030335, GO:0030198, GO:0030183, GO:0030032, GO:0030030, GO:0023035, GO:0021943, GO:0019221, GO:0016477, GO:0016477, GO:0010763, GO:0010710, GO:0008542, GO:0008354, GO:0008284, GO:0007229, GO:0007229, GO:0007229, GO:0007179, GO:0007161, GO:0007160, GO:0007160, GO:0007159, GO:0007156, GO:0007155, GO:0006968, GO:0006909, GO:0002042, GO:0001708, GO:0001701, GO:0000132, GO:0000082, negative regulation of anoikis, positive regulation of signaling receptor activity, positive regulation of protein localization to plasma membrane, regulation of inward rectifier potassium channel activity, reactive gliosis, regulation of spontaneous synaptic transmission, positive regulation of wound healing, basement membrane organization, cellular response to low-density lipoprotein particle stimulus, cardiac muscle cell differentiation, positive regulation of glutamate uptake involved in transmission of nerve impulse, positive regulation of protein kinase B signaling, regulation of cell cycle, leukocyte tethering or rolling, leukocyte migration, regulation of immune response, dendrite morphogenesis, axon extension, mesodermal cell differentiation, viral entry into host cell, positive regulation of angiogenesis, negative regulation of cell differentiation, sarcomere organization, positive regulation of GTPase activity, stress fiber assembly, positive regulation of apoptotic process, maintenance of blood-brain barrier, negative regulation of Rho protein signal transduction, heterotypic cell-cell adhesion, cell-cell adhesion mediated by integrin, cell adhesion mediated by integrin, cell adhesion mediated by integrin, cell adhesion mediated by integrin, receptor internalization, cell-substrate adhesion, positive regulation of cell migration, extracellular matrix organization, B cell differentiation, lamellipodium assembly, cell projection organization, CD40 signaling pathway, formation of radial glial scaffolds, cytokine-mediated signaling pathway, cell migration, cell migration, positive regulation of fibroblast migration, regulation of collagen catabolic process, visual learning, germ cell migration, positive regulation of cell population proliferation, integrin-mediated signaling pathway, integrin-mediated signaling pathway, integrin-mediated signaling pathway, transforming growth factor beta receptor signaling pathway, calcium-independent cell-matrix adhesion, cell-matrix adhesion, cell-matrix adhesion, leukocyte cell-cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, cellular defense response, phagocytosis, cell migration involved in sprouting angiogenesis, cell fate specification, in utero embryonic development, establishment of mitotic spindle orientation, G1/S transition of mitotic cell cycle, 455 415 719 757 500 972 643 377 822 ENSG00000150175 chr10 46870858 46894562 + FRMPD2B unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000150201 chr10 43371642 43376335 + FXYD4 protein_coding This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]. 53828 GO:0005890, GO:0005886, sodium:potassium-exchanging ATPase complex, plasma membrane, GO:0099106, GO:0051117, GO:0017080, GO:0005267, ion channel regulator activity, ATPase binding, sodium channel regulator activity, potassium channel activity, GO:2000649, GO:1903779, GO:0071805, GO:0034220, regulation of sodium ion transmembrane transporter activity, regulation of cardiac conduction, potassium ion transmembrane transport, ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000150244 chr11 55262182 55271119 + TRIM48 protein_coding 79097 GO:0005737, cytoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000150261 chr11 56345945 56347031 + OR8K1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390157 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000150269 chr11 56462469 56463401 - OR5M9 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390162 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000150275 chr10 53802771 55627942 - PCDH15 protein_coding This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]. 65217 GO:0045202, GO:0032420, GO:0005887, GO:0005576, GO:0001750, synapse, stereocilium, integral component of plasma membrane, extracellular region, photoreceptor outer segment, GO:0005509, calcium ion binding, GO:0050957, GO:0050953, GO:0048839, GO:0045494, GO:0007605, GO:0007156, GO:0007155, equilibrioception, sensory perception of light stimulus, inner ear development, photoreceptor cell maintenance, sensory perception of sound, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 1 0 0 0 0 0 ENSG00000150276 chr13 52820497 52821018 + PPIAP26 processed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000150281 chr16 30896607 30903560 + CTF1 protein_coding The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 1489 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005146, GO:0005125, protein binding, leukemia inhibitory factor receptor binding, cytokine activity, GO:0048861, GO:0048666, GO:0042531, GO:0042531, GO:0030182, GO:0019221, GO:0008284, GO:0007517, GO:0007267, GO:0007166, leukemia inhibitory factor signaling pathway, neuron development, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, neuron differentiation, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, muscle organ development, cell-cell signaling, cell surface receptor signaling pathway, 0 1 0 0 1 1 0 0 0 ENSG00000150316 chr11 94962622 94973612 - CWC15 protein_coding 51503 GO:0071013, GO:0071013, GO:0071007, GO:0016607, GO:0005739, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear speck, mitochondrion, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0045292, GO:0000398, GO:0000398, GO:0000398, GO:0000398, mRNA cis splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 185 146 175 102 182 143 132 156 127 ENSG00000150337 chr1 149782671 149792518 + FCGR1A protein_coding This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008]. 2209 GO:0031901, GO:0030669, GO:0005887, GO:0005886, GO:0005886, early endosome membrane, clathrin-coated endocytic vesicle membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0019864, GO:0005515, GO:0004888, IgG binding, protein binding, transmembrane signaling receptor activity, GO:0061098, GO:0060333, GO:0050776, GO:0050776, GO:0038096, GO:0007166, GO:0007165, GO:0006955, GO:0006911, GO:0006898, GO:0002479, positive regulation of protein tyrosine kinase activity, interferon-gamma-mediated signaling pathway, regulation of immune response, regulation of immune response, Fc-gamma receptor signaling pathway involved in phagocytosis, cell surface receptor signaling pathway, signal transduction, immune response, phagocytosis, engulfment, receptor-mediated endocytosis, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 351 315 806 113 275 237 173 213 222 ENSG00000150347 chr10 61901300 62096944 + ARID5B protein_coding This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 84159 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0005515, GO:0003713, GO:0003677, GO:0000976, GO:0000976, protein binding, transcription coactivator activity, DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990830, GO:1903508, GO:0060613, GO:0060612, GO:0060325, GO:0060021, GO:0051091, GO:0048705, GO:0048644, GO:0048468, GO:0048008, GO:0045892, GO:0045444, GO:0035264, GO:0030325, GO:0010761, GO:0009791, GO:0008585, GO:0008584, GO:0006807, GO:0006357, GO:0001889, GO:0001822, GO:0000122, cellular response to leukemia inhibitory factor, positive regulation of nucleic acid-templated transcription, fat pad development, adipose tissue development, face morphogenesis, roof of mouth development, positive regulation of DNA-binding transcription factor activity, skeletal system morphogenesis, muscle organ morphogenesis, cell development, platelet-derived growth factor receptor signaling pathway, negative regulation of transcription, DNA-templated, fat cell differentiation, multicellular organism growth, adrenal gland development, fibroblast migration, post-embryonic development, female gonad development, male gonad development, nitrogen compound metabolic process, regulation of transcription by RNA polymerase II, liver development, kidney development, negative regulation of transcription by RNA polymerase II, 85 52 168 184 55 113 158 55 114 ENSG00000150361 chr13 69700594 70108493 - KLHL1 protein_coding The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]. 57626 GO:0043025, GO:0030425, GO:0005856, GO:0005737, GO:0005737, neuronal cell body, dendrite, cytoskeleton, cytoplasm, cytoplasm, GO:0005515, GO:0003779, protein binding, actin binding, GO:0030036, GO:0021680, GO:0016358, GO:0007628, actin cytoskeleton organization, cerebellar Purkinje cell layer development, dendrite development, adult walking behavior, 0 0 0 0 0 0 0 0 0 ENSG00000150394 chr16 61647242 62037035 - CDH8 protein_coding This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008]. 1006 GO:0043679, GO:0043083, GO:0016342, GO:0016021, GO:0005912, GO:0005886, GO:0005886, axon terminus, synaptic cleft, catenin complex, integral component of membrane, adherens junction, plasma membrane, plasma membrane, GO:0045296, GO:0042802, GO:0005509, cadherin binding, identical protein binding, calcium ion binding, GO:0098742, GO:0050807, GO:0035249, GO:0034332, GO:0034332, GO:0016339, GO:0009409, GO:0007275, GO:0007156, GO:0007155, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, regulation of synapse organization, synaptic transmission, glutamatergic, adherens junction organization, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, response to cold, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, cell-cell junction assembly, cell morphogenesis, 0 1 0 0 0 0 0 1 0 ENSG00000150401 chr13 113455819 113490952 - DCUN1D2 protein_coding 55208 GO:0005737, GO:0005634, GO:0000151, cytoplasm, nucleus, ubiquitin ligase complex, GO:0097602, GO:0097602, GO:0032182, GO:0031624, GO:0005515, cullin family protein binding, cullin family protein binding, ubiquitin-like protein binding, ubiquitin conjugating enzyme binding, protein binding, GO:2000436, GO:2000434, GO:0051443, GO:0045116, positive regulation of protein neddylation, regulation of protein neddylation, positive regulation of ubiquitin-protein transferase activity, protein neddylation, 77 125 107 136 169 190 166 138 169 ENSG00000150403 chr13 113490995 113554590 + TMCO3 protein_coding This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract. [provided by RefSeq, Mar 2017]. 55002 GO:0016021, integral component of membrane, GO:0015299, solute:proton antiporter activity, GO:1902600, proton transmembrane transport, 401 659 620 195 486 394 258 432 254 ENSG00000150433 chr11 125096545 125111763 - TMEM218 protein_coding 219854 GO:0016021, GO:0005929, integral component of membrane, cilium, GO:0005515, protein binding, 33 25 20 21 33 25 21 26 22 ENSG00000150455 chr11 126283065 126298845 + TIRAP protein_coding The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]. 114609 GO:0032587, GO:0030139, GO:0005886, GO:0005886, GO:0005829, GO:0005737, ruffle membrane, endocytic vesicle, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0042802, GO:0042802, GO:0035663, GO:0035662, GO:0030674, GO:0005546, GO:0005515, GO:0005080, identical protein binding, identical protein binding, Toll-like receptor 2 binding, Toll-like receptor 4 binding, protein-macromolecule adaptor activity, phosphatidylinositol-4,5-bisphosphate binding, protein binding, protein kinase C binding, GO:2000343, GO:2000340, GO:0090023, GO:0071223, GO:0071221, GO:0070935, GO:0070374, GO:0051092, GO:0050830, GO:0046330, GO:0045088, GO:0045087, GO:0043123, GO:0035665, GO:0034145, GO:0034141, GO:0034137, GO:0032760, GO:0032757, GO:0032755, GO:0032738, GO:0032735, GO:0032648, GO:0032496, GO:0031334, GO:0030890, GO:0030099, GO:0007250, GO:0007166, GO:0006954, GO:0002755, positive regulation of chemokine (C-X-C motif) ligand 2 production, positive regulation of chemokine (C-X-C motif) ligand 1 production, positive regulation of neutrophil chemotaxis, cellular response to lipoteichoic acid, cellular response to bacterial lipopeptide, 3'-UTR-mediated mRNA stabilization, positive regulation of ERK1 and ERK2 cascade, positive regulation of NF-kappaB transcription factor activity, defense response to Gram-positive bacterium, positive regulation of JNK cascade, regulation of innate immune response, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, TIRAP-dependent toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 3 signaling pathway, positive regulation of toll-like receptor 2 signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-15 production, positive regulation of interleukin-12 production, regulation of interferon-beta production, response to lipopolysaccharide, positive regulation of protein-containing complex assembly, positive regulation of B cell proliferation, myeloid cell differentiation, activation of NF-kappaB-inducing kinase activity, cell surface receptor signaling pathway, inflammatory response, MyD88-dependent toll-like receptor signaling pathway, 150 85 157 51 80 84 84 98 74 ENSG00000150456 chr13 20728731 20773958 - EEF1AKMT1 protein_coding 221143 GO:0005829, cytosol, GO:0016279, GO:0016279, GO:0008168, GO:0003676, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, methyltransferase activity, nucleic acid binding, GO:0018022, GO:0006479, peptidyl-lysine methylation, protein methylation, 0 2 2 0 3 0 2 0 7 ENSG00000150457 chr13 20973032 21061547 - LATS2 protein_coding This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]. 26524 GO:0034451, GO:0005829, GO:0005829, GO:0005634, GO:0005634, GO:0005634, GO:0000922, GO:0000922, centriolar satellite, cytosol, cytosol, nucleus, nucleus, nucleus, spindle pole, spindle pole, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1900181, GO:0090090, GO:0051301, GO:0046620, GO:0045736, GO:0043065, GO:0035556, GO:0035556, GO:0035329, GO:0035329, GO:0035329, GO:0018105, GO:0017015, GO:0009755, GO:0006468, GO:0000082, GO:0000082, negative regulation of protein localization to nucleus, negative regulation of canonical Wnt signaling pathway, cell division, regulation of organ growth, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of apoptotic process, intracellular signal transduction, intracellular signal transduction, hippo signaling, hippo signaling, hippo signaling, peptidyl-serine phosphorylation, regulation of transforming growth factor beta receptor signaling pathway, hormone-mediated signaling pathway, protein phosphorylation, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 1536 1317 2081 430 562 611 401 413 523 ENSG00000150459 chr13 21140514 21149084 + SAP18 protein_coding Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2008]. 10284 GO:0061574, GO:0035145, GO:0016607, GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000118, ASAP complex, exon-exon junction complex, nuclear speck, nuclear body, cytosol, nucleoplasm, nucleoplasm, nucleus, histone deacetylase complex, GO:0008134, GO:0005515, GO:0003723, GO:0003714, GO:0003714, transcription factor binding, protein binding, RNA binding, transcription corepressor activity, transcription corepressor activity, GO:1903507, GO:0048025, GO:0045892, GO:0043065, GO:0008380, GO:0006397, GO:0006357, GO:0000381, GO:0000381, negative regulation of nucleic acid-templated transcription, negative regulation of mRNA splicing, via spliceosome, negative regulation of transcription, DNA-templated, positive regulation of apoptotic process, RNA splicing, mRNA processing, regulation of transcription by RNA polymerase II, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 652 552 678 509 812 590 465 616 501 ENSG00000150471 chr4 61201258 62078335 + ADGRL3 protein_coding This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008]. 23284 GO:0098978, GO:0030424, GO:0030424, GO:0016021, GO:0005911, GO:0005911, GO:0005887, GO:0005887, glutamatergic synapse, axon, axon, integral component of membrane, cell-cell junction, cell-cell junction, integral component of plasma membrane, integral component of plasma membrane, GO:0030246, GO:0005515, GO:0005509, GO:0004930, GO:0004930, carbohydrate binding, protein binding, calcium ion binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0098742, GO:0098742, GO:0051965, GO:0042220, GO:0031987, GO:0007420, GO:0007416, GO:0007416, GO:0007189, GO:0007186, GO:0007166, GO:0001764, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion via plasma-membrane adhesion molecules, positive regulation of synapse assembly, response to cocaine, locomotion involved in locomotory behavior, brain development, synapse assembly, synapse assembly, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000150477 chr18 36829106 37232172 + KIAA1328 protein_coding 57536 GO:0005515, protein binding, 11 16 17 31 15 39 37 15 31 ENSG00000150510 chr13 51222334 51284241 + FAM124A protein_coding 220108 GO:0005515, protein binding, 1 1 0 0 0 0 0 1 0 ENSG00000150527 chr14 39230231 39388513 + MIA2 protein_coding This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]. 4253 GO:0070971, GO:0070971, GO:0016021, GO:0016020, GO:0005789, GO:0005783, endoplasmic reticulum exit site, endoplasmic reticulum exit site, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0035459, GO:0009306, GO:0006888, vesicle cargo loading, protein secretion, endoplasmic reticulum to Golgi vesicle-mediated transport, 740 716 871 553 855 790 703 655 561 ENSG00000150540 chr2 137964020 138016364 + HNMT protein_coding In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]. 3176 GO:0070062, GO:0043005, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, extracellular exosome, neuron projection, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, GO:0046539, GO:0046539, histamine N-methyltransferase activity, histamine N-methyltransferase activity, GO:0070555, GO:0051384, GO:0042220, GO:0035902, GO:0032259, GO:0014075, GO:0007585, GO:0007420, GO:0006972, GO:0006548, GO:0002347, GO:0001695, GO:0001692, response to interleukin-1, response to glucocorticoid, response to cocaine, response to immobilization stress, methylation, response to amine, respiratory gaseous exchange by respiratory system, brain development, hyperosmotic response, histidine catabolic process, response to tumor cell, histamine catabolic process, histamine metabolic process, 2 3 8 3 7 5 0 5 0 ENSG00000150551 chr2 132644853 132671579 - LYPD1 protein_coding 116372 GO:0045202, GO:0031225, GO:0005886, GO:0005576, synapse, anchored component of membrane, plasma membrane, extracellular region, GO:0033130, GO:0030550, acetylcholine receptor binding, acetylcholine receptor inhibitor activity, GO:2000272, GO:1903077, GO:0095500, GO:0035094, GO:0007271, GO:0001662, negative regulation of signaling receptor activity, negative regulation of protein localization to plasma membrane, acetylcholine receptor signaling pathway, response to nicotine, synaptic transmission, cholinergic, behavioral fear response, 0 1 0 0 0 2 0 0 0 ENSG00000150556 chr2 149038107 149215262 + LYPD6B protein_coding 130576 GO:0031225, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, extracellular region, GO:0030548, GO:0030548, acetylcholine receptor regulator activity, acetylcholine receptor regulator activity, GO:0099601, regulation of neurotransmitter receptor activity, 0 0 1 0 0 0 0 0 0 ENSG00000150593 chr10 110871795 110900006 + PDCD4 protein_coding This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. 27250 GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005634, cytosol, cytosol, cytosol, cytoplasm, nucleus, nucleus, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:2000353, GO:1905461, GO:1905064, GO:1904761, GO:1904706, GO:1901224, GO:1900016, GO:0071222, GO:0060940, GO:0050729, GO:0045892, GO:0045892, GO:0045786, GO:0043508, GO:0043066, GO:0035722, GO:0030509, GO:0007569, GO:0006915, positive regulation of endothelial cell apoptotic process, positive regulation of vascular associated smooth muscle cell apoptotic process, negative regulation of vascular associated smooth muscle cell differentiation, negative regulation of myofibroblast differentiation, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of NIK/NF-kappaB signaling, negative regulation of cytokine production involved in inflammatory response, cellular response to lipopolysaccharide, epithelial to mesenchymal transition involved in cardiac fibroblast development, positive regulation of inflammatory response, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of cell cycle, negative regulation of JUN kinase activity, negative regulation of apoptotic process, interleukin-12-mediated signaling pathway, BMP signaling pathway, cell aging, apoptotic process, 2178 2925 2888 1667 2414 2135 1575 1728 1611 ENSG00000150594 chr10 111077163 111080907 + ADRA2A protein_coding Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019]. 150 GO:0098691, GO:0043235, GO:0016323, GO:0005887, GO:0005887, GO:0005886, GO:0005737, dopaminergic synapse, receptor complex, basolateral plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0051380, GO:0051379, GO:0051379, GO:0046982, GO:0046982, GO:0042803, GO:0042802, GO:0032795, GO:0031996, GO:0031696, GO:0031692, GO:0019901, GO:0005515, GO:0004938, GO:0004938, GO:0004938, GO:0004930, norepinephrine binding, epinephrine binding, epinephrine binding, protein heterodimerization activity, protein heterodimerization activity, protein homodimerization activity, identical protein binding, heterotrimeric G-protein binding, thioesterase binding, alpha-2C adrenergic receptor binding, alpha-1B adrenergic receptor binding, protein kinase binding, protein binding, alpha2-adrenergic receptor activity, alpha2-adrenergic receptor activity, alpha2-adrenergic receptor activity, G protein-coupled receptor activity, GO:2000300, GO:1901020, GO:0090303, GO:0071882, GO:0071881, GO:0071880, GO:0071880, GO:0071875, GO:0061179, GO:0051926, GO:0051044, GO:0050995, GO:0050892, GO:0050796, GO:0046676, GO:0045955, GO:0045741, GO:0043410, GO:0043406, GO:0043268, GO:0042596, GO:0042593, GO:0035624, GO:0032870, GO:0032811, GO:0032148, GO:0032147, GO:0030335, GO:0030168, GO:0030036, GO:0019229, GO:0010700, GO:0010700, GO:0008284, GO:0007266, GO:0007265, GO:0007193, GO:0007189, GO:0007186, GO:0007186, GO:0007186, GO:0006940, GO:0001819, regulation of synaptic vesicle exocytosis, negative regulation of calcium ion transmembrane transporter activity, positive regulation of wound healing, phospholipase C-activating adrenergic receptor signaling pathway, adenylate cyclase-inhibiting adrenergic receptor signaling pathway, adenylate cyclase-activating adrenergic receptor signaling pathway, adenylate cyclase-activating adrenergic receptor signaling pathway, adrenergic receptor signaling pathway, negative regulation of insulin secretion involved in cellular response to glucose stimulus, negative regulation of calcium ion transport, positive regulation of membrane protein ectodomain proteolysis, negative regulation of lipid catabolic process, intestinal absorption, regulation of insulin secretion, negative regulation of insulin secretion, negative regulation of calcium ion-dependent exocytosis, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, positive regulation of potassium ion transport, fear response, glucose homeostasis, receptor transactivation, cellular response to hormone stimulus, negative regulation of epinephrine secretion, activation of protein kinase B activity, activation of protein kinase activity, positive regulation of cell migration, platelet activation, actin cytoskeleton organization, regulation of vasoconstriction, negative regulation of norepinephrine secretion, negative regulation of norepinephrine secretion, positive regulation of cell population proliferation, Rho protein signal transduction, Ras protein signal transduction, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, regulation of smooth muscle contraction, positive regulation of cytokine production, 0 0 0 2 1 0 0 1 0 ENSG00000150625 chr4 175632934 176002664 - GPM6A protein_coding 2823 GO:1903561, GO:0099059, GO:0098978, GO:0070062, GO:0044295, GO:0044295, GO:0043197, GO:0043025, GO:0043025, GO:0043005, GO:0030175, GO:0030175, GO:0005886, GO:0005886, extracellular vesicle, integral component of presynaptic active zone membrane, glutamatergic synapse, extracellular exosome, axonal growth cone, axonal growth cone, dendritic spine, neuronal cell body, neuronal cell body, neuron projection, filopodium, filopodium, plasma membrane, plasma membrane, GO:0005515, GO:0005262, protein binding, calcium channel activity, GO:0070588, GO:0051491, GO:0050807, GO:0048863, GO:0048812, GO:0031175, GO:0009617, GO:0007416, GO:0003407, GO:0001764, calcium ion transmembrane transport, positive regulation of filopodium assembly, regulation of synapse organization, stem cell differentiation, neuron projection morphogenesis, neuron projection development, response to bacterium, synapse assembly, neural retina development, neuron migration, 0 0 0 0 1 0 2 0 0 ENSG00000150627 chr4 176065834 176182818 + WDR17 protein_coding This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]. 116966 1 1 1 7 2 8 3 0 0 ENSG00000150628 chr4 176184638 176195671 - SPATA4 protein_coding 132851 GO:0005930, GO:0005634, GO:0005575, axoneme, nucleus, cellular_component, GO:0008017, GO:0005515, GO:0003674, microtubule binding, protein binding, molecular_function, GO:0051493, regulation of cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000150630 chr4 176683538 176792727 - VEGFC protein_coding The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]. 7424 GO:0031093, GO:0016020, GO:0005615, GO:0005576, platelet alpha granule lumen, membrane, extracellular space, extracellular region, GO:0043185, GO:0043185, GO:0042056, GO:0042056, GO:0008083, GO:0005515, GO:0005172, vascular endothelial growth factor receptor 3 binding, vascular endothelial growth factor receptor 3 binding, chemoattractant activity, chemoattractant activity, growth factor activity, protein binding, vascular endothelial growth factor receptor binding, GO:1990830, GO:1902462, GO:1901492, GO:0060754, GO:0060754, GO:0051781, GO:0050930, GO:0050930, GO:0050918, GO:0050714, GO:0048010, GO:0048010, GO:0048010, GO:0045860, GO:0045776, GO:0045766, GO:0045668, GO:0043536, GO:0042493, GO:0038084, GO:0031954, GO:0030947, GO:0016331, GO:0009887, GO:0008284, GO:0007165, GO:0006929, GO:0002576, GO:0002052, GO:0002040, GO:0001938, GO:0001934, GO:0001666, cellular response to leukemia inhibitory factor, positive regulation of mesenchymal stem cell proliferation, positive regulation of lymphangiogenesis, positive regulation of mast cell chemotaxis, positive regulation of mast cell chemotaxis, positive regulation of cell division, induction of positive chemotaxis, induction of positive chemotaxis, positive chemotaxis, positive regulation of protein secretion, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of protein kinase activity, negative regulation of blood pressure, positive regulation of angiogenesis, negative regulation of osteoblast differentiation, positive regulation of blood vessel endothelial cell migration, response to drug, vascular endothelial growth factor signaling pathway, positive regulation of protein autophosphorylation, regulation of vascular endothelial growth factor receptor signaling pathway, morphogenesis of embryonic epithelium, animal organ morphogenesis, positive regulation of cell population proliferation, signal transduction, substrate-dependent cell migration, platelet degranulation, positive regulation of neuroblast proliferation, sprouting angiogenesis, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, response to hypoxia, 0 1 0 0 0 0 0 0 0 ENSG00000150636 chr18 68715209 69055189 + CCDC102B protein_coding 79839 GO:0005515, protein binding, 2 0 5 1 4 2 4 0 0 ENSG00000150637 chr18 69831158 69961803 - CD226 protein_coding This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 10666 GO:0045121, GO:0009986, GO:0009897, GO:0005887, GO:0005886, membrane raft, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0050839, GO:0019901, GO:0005515, GO:0005178, cell adhesion molecule binding, protein kinase binding, protein binding, integrin binding, GO:0060369, GO:0060369, GO:0050862, GO:0050862, GO:0050776, GO:0045954, GO:0033005, GO:0033005, GO:0032729, GO:0008037, GO:0007165, GO:0007155, GO:0002891, GO:0002891, GO:0002860, GO:0002860, GO:0002729, GO:0001816, positive regulation of Fc receptor mediated stimulatory signaling pathway, positive regulation of Fc receptor mediated stimulatory signaling pathway, positive regulation of T cell receptor signaling pathway, positive regulation of T cell receptor signaling pathway, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of mast cell activation, positive regulation of mast cell activation, positive regulation of interferon-gamma production, cell recognition, signal transduction, cell adhesion, positive regulation of immunoglobulin mediated immune response, positive regulation of immunoglobulin mediated immune response, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, positive regulation of natural killer cell cytokine production, cytokine production, 62 48 101 259 74 242 170 77 161 ENSG00000150656 chr18 74534440 74587212 + CNDP1 protein_coding This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]. 84735 GO:0005829, GO:0005829, GO:0005576, cytosol, cytosol, extracellular region, GO:0070573, GO:0046872, GO:0016805, GO:0016805, GO:0008233, GO:0004180, metallodipeptidase activity, metal ion binding, dipeptidase activity, dipeptidase activity, peptidase activity, carboxypeptidase activity, GO:0032268, GO:0006508, GO:0006508, regulation of cellular protein metabolic process, proteolysis, proteolysis, 0 0 0 2 0 0 2 0 0 ENSG00000150667 chr15 39588357 39782830 - FSIP1 protein_coding 161835 35 44 38 15 8 22 15 13 3 ENSG00000150672 chr11 83455012 85627922 - DLG2 protein_coding This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]. 1740 GO:1904115, GO:0098978, GO:0098839, GO:0044224, GO:0043204, GO:0043005, GO:0031594, GO:0030672, GO:0030054, GO:0016323, GO:0016020, GO:0014069, GO:0008328, GO:0008076, GO:0005886, GO:0005829, axon cytoplasm, glutamatergic synapse, postsynaptic density membrane, juxtaparanode region of axon, perikaryon, neuron projection, neuromuscular junction, synaptic vesicle membrane, cell junction, basolateral plasma membrane, membrane, postsynaptic density, ionotropic glutamate receptor complex, voltage-gated potassium channel complex, plasma membrane, cytosol, GO:0098919, GO:0019900, GO:0005515, GO:0004385, structural constituent of postsynaptic density, kinase binding, protein binding, guanylate kinase activity, GO:2000310, GO:0099642, GO:0099641, GO:0099562, GO:0098609, GO:0097120, GO:0046710, GO:0046037, GO:0045197, GO:0043113, GO:0035865, GO:0019233, GO:0010923, GO:0009790, GO:0007268, GO:0000165, regulation of NMDA receptor activity, retrograde axonal protein transport, anterograde axonal protein transport, maintenance of postsynaptic density structure, cell-cell adhesion, receptor localization to synapse, GDP metabolic process, GMP metabolic process, establishment or maintenance of epithelial cell apical/basal polarity, receptor clustering, cellular response to potassium ion, sensory perception of pain, negative regulation of phosphatase activity, embryo development, chemical synaptic transmission, MAPK cascade, 1 5 3 1 2 0 2 1 7 ENSG00000150676 chr11 85855101 85920021 + CCDC83 protein_coding 220047 GO:0005515, protein binding, 0 0 1 0 0 0 0 0 1 ENSG00000150681 chr1 192158457 192185815 + RGS18 protein_coding This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 64407 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0005515, GO:0005096, GO:0003924, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0009968, GO:0008277, GO:0007186, positive regulation of GTPase activity, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 2402 2810 2656 347 1517 547 587 1244 657 ENSG00000150687 chr11 86791059 86952910 + PRSS23 protein_coding This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 11098 GO:0070062, GO:0005788, GO:0005634, extracellular exosome, endoplasmic reticulum lumen, nucleus, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0044267, GO:0043687, GO:0006508, cellular protein metabolic process, post-translational protein modification, proteolysis, 6 11 15 15 31 68 14 29 64 ENSG00000150712 chr5 32226994 32313009 - MTMR12 protein_coding Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. 54545 GO:0030017, GO:0016529, GO:0016020, GO:0005829, GO:0005737, GO:0005737, sarcomere, sarcoplasmic reticulum, membrane, cytosol, cytoplasm, cytoplasm, GO:0019208, GO:0005515, GO:0004438, phosphatase regulator activity, protein binding, phosphatidylinositol-3-phosphatase activity, GO:1901998, GO:0050790, GO:0046856, GO:0006661, toxin transport, regulation of catalytic activity, phosphatidylinositol dephosphorylation, phosphatidylinositol biosynthetic process, 485 329 478 270 316 258 303 230 178 ENSG00000150722 chr2 181954241 182131398 + PPP1R1C protein_coding Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]. 151242 GO:0005737, cytoplasm, GO:0005515, GO:0004864, protein binding, protein phosphatase inhibitor activity, GO:0051301, GO:0035556, GO:0032515, GO:0007049, cell division, intracellular signal transduction, negative regulation of phosphoprotein phosphatase activity, cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000150732 chr1 188067298 188067525 - AL136372.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000150750 chr11 111245805 111286401 + C11orf53 protein_coding 341032 0 0 0 0 0 0 0 0 0 ENSG00000150753 chr5 10249921 10266412 + CCT5 protein_coding The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]. 22948 GO:0070062, GO:0044297, GO:0005874, GO:0005832, GO:0005832, GO:0005832, GO:0005829, GO:0005813, extracellular exosome, cell body, microtubule, chaperonin-containing T-complex, chaperonin-containing T-complex, chaperonin-containing T-complex, cytosol, centrosome, GO:0051082, GO:0048487, GO:0048027, GO:0031681, GO:0005524, GO:0005515, GO:0003730, unfolded protein binding, beta-tubulin binding, mRNA 5'-UTR binding, G-protein beta-subunit binding, ATP binding, protein binding, mRNA 3'-UTR binding, GO:1904874, GO:1904871, GO:1904851, GO:1901998, GO:0050821, GO:0032212, GO:0009615, GO:0007339, GO:0006457, GO:0006457, positive regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, toxin transport, protein stabilization, positive regulation of telomere maintenance via telomerase, response to virus, binding of sperm to zona pellucida, protein folding, protein folding, 478 481 636 302 331 281 298 356 340 ENSG00000150756 chr5 10226330 10249897 - FAM173B protein_coding 134145 GO:0030061, GO:0016021, GO:0005739, GO:0005739, mitochondrial crista, integral component of membrane, mitochondrion, mitochondrion, GO:0016279, GO:0016279, GO:0016279, GO:0005515, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, GO:1905706, GO:1905706, GO:1905273, GO:1905273, GO:1904058, GO:0018023, GO:0018023, GO:0018022, regulation of mitochondrial ATP synthesis coupled proton transport, regulation of mitochondrial ATP synthesis coupled proton transport, positive regulation of proton-transporting ATP synthase activity, rotational mechanism, positive regulation of proton-transporting ATP synthase activity, rotational mechanism, positive regulation of sensory perception of pain, peptidyl-lysine trimethylation, peptidyl-lysine trimethylation, peptidyl-lysine methylation, 12 28 18 12 12 23 12 24 23 ENSG00000150760 chr10 126905409 127452517 + DOCK1 protein_coding This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 1793 GO:0032045, GO:0016607, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005654, guanyl-nucleotide exchange factor complex, nuclear speck, membrane, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0017124, GO:0005515, GO:0005096, GO:0005085, GO:0005085, SH3 domain binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1900026, GO:0048010, GO:0043547, GO:0038096, GO:0016477, GO:0010634, GO:0007596, GO:0007264, GO:0007229, GO:0007165, GO:0006915, GO:0006911, positive regulation of substrate adhesion-dependent cell spreading, vascular endothelial growth factor receptor signaling pathway, positive regulation of GTPase activity, Fc-gamma receptor signaling pathway involved in phagocytosis, cell migration, positive regulation of epithelial cell migration, blood coagulation, small GTPase mediated signal transduction, integrin-mediated signaling pathway, signal transduction, apoptotic process, phagocytosis, engulfment, 0 0 2 2 0 4 3 3 0 ENSG00000150764 chr11 111927144 112022584 + DIXDC1 protein_coding The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]. 85458 GO:0005925, GO:0005856, GO:0005829, GO:0005829, focal adhesion, cytoskeleton, cytosol, cytosol, GO:0043015, GO:0019904, GO:0005515, GO:0003779, gamma-tubulin binding, protein domain specific binding, protein binding, actin binding, GO:0070507, GO:0060070, GO:0060070, GO:0045665, GO:0032956, GO:0030177, GO:0021869, GO:0021799, regulation of microtubule cytoskeleton organization, canonical Wnt signaling pathway, canonical Wnt signaling pathway, negative regulation of neuron differentiation, regulation of actin cytoskeleton organization, positive regulation of Wnt signaling pathway, forebrain ventricular zone progenitor cell division, cerebral cortex radially oriented cell migration, 2 3 6 2 1 2 1 0 12 ENSG00000150768 chr11 112024814 112064390 + DLAT protein_coding This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]. 1737 GO:0045254, GO:0005967, GO:0005967, GO:0005759, GO:0005739, GO:0005739, pyruvate dehydrogenase complex, mitochondrial pyruvate dehydrogenase complex, mitochondrial pyruvate dehydrogenase complex, mitochondrial matrix, mitochondrion, mitochondrion, GO:0042802, GO:0034604, GO:0034604, GO:0034604, GO:0005515, GO:0004742, GO:0004742, GO:0004742, identical protein binding, pyruvate dehydrogenase (NAD+) activity, pyruvate dehydrogenase (NAD+) activity, pyruvate dehydrogenase (NAD+) activity, protein binding, dihydrolipoyllysine-residue acetyltransferase activity, dihydrolipoyllysine-residue acetyltransferase activity, dihydrolipoyllysine-residue acetyltransferase activity, GO:0030431, GO:0006099, GO:0006090, GO:0006086, GO:0006006, sleep, tricarboxylic acid cycle, pyruvate metabolic process, acetyl-CoA biosynthetic process from pyruvate, glucose metabolic process, 13 8 26 45 11 67 43 10 53 ENSG00000150773 chr11 112064010 112074274 - PIH1D2 protein_coding 120379 GO:1990904, GO:0097255, GO:0005737, ribonucleoprotein complex, R2TP complex, cytoplasm, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0006364, GO:0000492, rRNA processing, box C/D snoRNP assembly, 1 0 2 0 0 7 0 1 1 ENSG00000150776 chr11 112074086 112085150 + NKAPD1 protein_coding 55216 GO:0042802, GO:0005515, identical protein binding, protein binding, 51 47 63 48 56 60 51 51 33 ENSG00000150779 chr11 112084800 112086798 - TIMM8B protein_coding This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]. 26521 GO:0042719, GO:0005743, GO:0005615, mitochondrial intermembrane space protein transporter complex, mitochondrial inner membrane, extracellular space, GO:0008270, zinc ion binding, GO:0072321, GO:0007605, GO:0006626, chaperone-mediated protein transport, sensory perception of sound, protein targeting to mitochondrion, 84 53 85 27 51 59 34 89 44 ENSG00000150782 chr11 112143251 112164117 - IL18 protein_coding The protein encoded by this gene is a proinflammatory cytokine of the IL-1 family that is constitutively found as a precursor within the cytoplasm of a variety of cells including macrophages and keratinocytes. The inactive IL-18 precursor is processed to its active form by caspase-1, and is capable of stimulating interferon gamma production, and of regulating both T helper (Th) 1 and Th2 responses. This cytokine has been implicated in the injury of different organs, and in potentially fatal conditions characterized by a cytokine storm. In humans, IL-18 gene is located on chromosome 11. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2020]. 3606 GO:0005829, GO:0005615, GO:0005576, cytosol, extracellular space, extracellular region, GO:0045515, GO:0005515, GO:0005125, GO:0005125, GO:0005125, interleukin-18 receptor binding, protein binding, cytokine activity, cytokine activity, cytokine activity, GO:2000556, GO:1901224, GO:0150078, GO:0120162, GO:0071407, GO:0070328, GO:0051897, GO:0051142, GO:0051092, GO:0050729, GO:0048661, GO:0045944, GO:0045662, GO:0045630, GO:0042632, GO:0042531, GO:0042267, GO:0042119, GO:0042104, GO:0042092, GO:0042088, GO:0035744, GO:0035655, GO:0035655, GO:0034105, GO:0032819, GO:0032740, GO:0032729, GO:0032725, GO:0032635, GO:0032616, GO:0032609, GO:0032602, GO:0032148, GO:0031663, GO:0030431, GO:0030155, GO:0030101, GO:0019221, GO:0014068, GO:0010744, GO:0008283, GO:0007267, GO:0006954, GO:0001525, GO:0000165, positive regulation of T-helper 1 cell cytokine production, positive regulation of NIK/NF-kappaB signaling, positive regulation of neuroinflammatory response, positive regulation of cold-induced thermogenesis, cellular response to organic cyclic compound, triglyceride homeostasis, positive regulation of protein kinase B signaling, positive regulation of NK T cell proliferation, positive regulation of NF-kappaB transcription factor activity, positive regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, positive regulation of transcription by RNA polymerase II, negative regulation of myoblast differentiation, positive regulation of T-helper 2 cell differentiation, cholesterol homeostasis, positive regulation of tyrosine phosphorylation of STAT protein, natural killer cell mediated cytotoxicity, neutrophil activation, positive regulation of activated T cell proliferation, type 2 immune response, T-helper 1 type immune response, T-helper 1 cell cytokine production, interleukin-18-mediated signaling pathway, interleukin-18-mediated signaling pathway, positive regulation of tissue remodeling, positive regulation of natural killer cell proliferation, positive regulation of interleukin-17 production, positive regulation of interferon-gamma production, positive regulation of granulocyte macrophage colony-stimulating factor production, interleukin-6 production, interleukin-13 production, interferon-gamma production, chemokine production, activation of protein kinase B activity, lipopolysaccharide-mediated signaling pathway, sleep, regulation of cell adhesion, natural killer cell activation, cytokine-mediated signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of macrophage derived foam cell differentiation, cell population proliferation, cell-cell signaling, inflammatory response, angiogenesis, MAPK cascade, 28 46 67 35 71 77 37 49 76 ENSG00000150783 chr11 112167372 112172559 + TEX12 protein_coding This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008]. 56158 GO:0000801, central element, GO:0005515, protein binding, GO:0007130, GO:0000711, synaptonemal complex assembly, meiotic DNA repair synthesis, 0 2 0 0 0 0 3 2 0 ENSG00000150787 chr11 112226365 112269955 + PTS protein_coding The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]. 5805 GO:0005829, GO:0005739, GO:0005739, GO:0005737, cytosol, mitochondrion, mitochondrion, cytoplasm, GO:0046872, GO:0042802, GO:0005515, GO:0003874, metal ion binding, identical protein binding, protein binding, 6-pyruvoyltetrahydropterin synthase activity, GO:0007417, GO:0006729, GO:0006520, central nervous system development, tetrahydrobiopterin biosynthetic process, cellular amino acid metabolic process, 109 117 78 204 167 194 184 127 138 ENSG00000150867 chr10 22534849 22714555 - PIP4K2A protein_coding Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]. 5305 GO:0005886, GO:0005829, GO:0005829, GO:0005776, GO:0005654, plasma membrane, cytosol, cytosol, autophagosome, nucleoplasm, GO:0016309, GO:0016308, GO:0016308, GO:0005524, GO:0005515, 1-phosphatidylinositol-5-phosphate 4-kinase activity, 1-phosphatidylinositol-4-phosphate 5-kinase activity, 1-phosphatidylinositol-4-phosphate 5-kinase activity, ATP binding, protein binding, GO:2000786, GO:1902635, GO:0046854, GO:0035855, GO:0014066, GO:0010506, GO:0006661, GO:0006644, positive regulation of autophagosome assembly, 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process, phosphatidylinositol phosphorylation, megakaryocyte development, regulation of phosphatidylinositol 3-kinase signaling, regulation of autophagy, phosphatidylinositol biosynthetic process, phospholipid metabolic process, 889 637 933 727 577 883 738 541 784 ENSG00000150873 chr2 11133053 11146790 + C2orf50 protein_coding 130813 GO:0005515, protein binding, 0 0 0 2 0 0 3 7 0 ENSG00000150893 chr13 38687129 38887131 + FREM2 protein_coding This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]. 341640 GO:0070062, GO:0016021, GO:0005886, GO:0005604, extracellular exosome, integral component of membrane, plasma membrane, basement membrane, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0048839, GO:0042733, GO:0007507, GO:0007155, GO:0007154, GO:0002009, GO:0001822, GO:0001654, inner ear development, embryonic digit morphogenesis, heart development, cell adhesion, cell communication, morphogenesis of an epithelium, kidney development, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000150907 chr13 40469953 40666597 - FOXO1 protein_coding This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]. 2308 GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990841, GO:0051721, GO:0043565, GO:0031625, GO:0008013, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0001227, GO:0001223, GO:0000981, GO:0000981, GO:0000978, GO:0000978, promoter-specific chromatin binding, protein phosphatase 2A binding, sequence-specific DNA binding, ubiquitin protein ligase binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription coactivator binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000377, GO:2000177, GO:1903243, GO:1902617, GO:0097150, GO:0097009, GO:0090090, GO:0071732, GO:0071549, GO:0071455, GO:0070542, GO:0070417, GO:0070301, GO:0070166, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045732, GO:0045722, GO:0045599, GO:0045444, GO:0043066, GO:0043065, GO:0034599, GO:0032873, GO:0032869, GO:0031018, GO:0019221, GO:0010508, GO:0009267, GO:0009267, GO:0008286, GO:0008286, GO:0006974, GO:0006915, GO:0006914, GO:0006473, GO:0006357, GO:0001678, GO:0001659, GO:0001568, regulation of reactive oxygen species metabolic process, regulation of neural precursor cell proliferation, negative regulation of cardiac muscle hypertrophy in response to stress, response to fluoride, neuronal stem cell population maintenance, energy homeostasis, negative regulation of canonical Wnt signaling pathway, cellular response to nitric oxide, cellular response to dexamethasone stimulus, cellular response to hyperoxia, response to fatty acid, cellular response to cold, cellular response to hydrogen peroxide, enamel mineralization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of protein catabolic process, positive regulation of gluconeogenesis, negative regulation of fat cell differentiation, fat cell differentiation, negative regulation of apoptotic process, positive regulation of apoptotic process, cellular response to oxidative stress, negative regulation of stress-activated MAPK cascade, cellular response to insulin stimulus, endocrine pancreas development, cytokine-mediated signaling pathway, positive regulation of autophagy, cellular response to starvation, cellular response to starvation, insulin receptor signaling pathway, insulin receptor signaling pathway, cellular response to DNA damage stimulus, apoptotic process, autophagy, protein acetylation, regulation of transcription by RNA polymerase II, cellular glucose homeostasis, temperature homeostasis, blood vessel development, 648 517 754 531 559 709 590 445 577 ENSG00000150938 chr2 36355926 36551135 + CRIM1 protein_coding This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]. 51232 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0030165, GO:0005520, GO:0005010, GO:0004867, PDZ domain binding, insulin-like growth factor binding, insulin-like growth factor-activated receptor activity, serine-type endopeptidase inhibitor activity, GO:0048009, GO:0045668, GO:0030514, GO:0010951, GO:0007399, insulin-like growth factor receptor signaling pathway, negative regulation of osteoblast differentiation, negative regulation of BMP signaling pathway, negative regulation of endopeptidase activity, nervous system development, 64 47 79 38 27 56 44 20 55 ENSG00000150961 chr4 118722823 118838683 - SEC24D protein_coding The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 9871 GO:0070971, GO:0043231, GO:0030127, GO:0030127, GO:0030127, GO:0012507, GO:0005829, GO:0005789, GO:0000139, endoplasmic reticulum exit site, intracellular membrane-bounded organelle, COPII vesicle coat, COPII vesicle coat, COPII vesicle coat, ER to Golgi transport vesicle membrane, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0008270, GO:0008270, GO:0005515, GO:0000149, GO:0000149, zinc ion binding, zinc ion binding, protein binding, SNARE binding, SNARE binding, GO:0090110, GO:0090110, GO:0048208, GO:0019886, GO:0006888, GO:0006888, GO:0006888, GO:0006886, GO:0002474, GO:0001701, COPII-coated vesicle cargo loading, COPII-coated vesicle cargo loading, COPII vesicle coating, antigen processing and presentation of exogenous peptide antigen via MHC class II, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, antigen processing and presentation of peptide antigen via MHC class I, in utero embryonic development, 303 295 437 142 227 202 189 188 221 ENSG00000150967 chr12 122920951 122981649 - ABCB9 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011]. 23457 GO:0043231, GO:0042824, GO:0030176, GO:0016021, GO:0016021, GO:0005783, GO:0005769, GO:0005765, GO:0005765, GO:0005765, GO:0005764, intracellular membrane-bounded organelle, MHC class I peptide loading complex, integral component of endoplasmic reticulum membrane, integral component of membrane, integral component of membrane, endoplasmic reticulum, early endosome, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, GO:0046978, GO:0042803, GO:0042803, GO:0042626, GO:0042288, GO:0022857, GO:0016887, GO:0015440, GO:0015440, GO:0015433, GO:0005524, GO:0005515, TAP1 binding, protein homodimerization activity, protein homodimerization activity, ATPase-coupled transmembrane transporter activity, MHC class I protein binding, transmembrane transporter activity, ATPase activity, ATPase-coupled peptide transmembrane transporter activity, ATPase-coupled peptide transmembrane transporter activity, ATPase-coupled peptide antigen transmembrane transporter activity, ATP binding, protein binding, GO:0055085, GO:0055085, GO:0019885, GO:0015833, GO:0015833, GO:0015031, GO:0002474, transmembrane transport, transmembrane transport, antigen processing and presentation of endogenous peptide antigen via MHC class I, peptide transport, peptide transport, protein transport, antigen processing and presentation of peptide antigen via MHC class I, 156 169 169 176 148 156 142 121 133 ENSG00000150977 chr12 123410683 123436717 - RILPL2 protein_coding This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 196383 GO:0036064, GO:0016020, GO:0005929, GO:0005829, GO:0005813, GO:0005737, ciliary basal body, membrane, cilium, cytosol, centrosome, cytoplasm, GO:0046983, GO:0042802, GO:0005515, protein dimerization activity, identical protein binding, protein binding, GO:1903445, GO:0060271, GO:0003382, protein transport from ciliary membrane to plasma membrane, cilium assembly, epithelial cell morphogenesis, 2985 2672 6026 898 1614 2368 1384 1644 2324 ENSG00000150990 chr12 124946825 124989122 - DHX37 protein_coding This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]. 57647 GO:0031965, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005622, nuclear membrane, cytoplasm, nucleolus, nucleolus, nucleoplasm, intracellular anatomical structure, GO:0034511, GO:0005524, GO:0005515, GO:0003724, GO:0003723, U3 snoRNA binding, ATP binding, protein binding, RNA helicase activity, RNA binding, GO:2000020, GO:0042255, GO:0042254, GO:0007420, GO:0006364, GO:0000462, positive regulation of male gonad development, ribosome assembly, ribosome biogenesis, brain development, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 19 22 35 34 17 58 50 20 53 ENSG00000150991 chr12 124911604 124917368 - UBC protein_coding This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]. 7316 GO:0070062, GO:0043657, GO:0031982, GO:0030666, GO:0010008, GO:0005886, GO:0005829, GO:0005789, GO:0005741, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005615, extracellular exosome, host cell, vesicle, endocytic vesicle membrane, endosome membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, mitochondrial outer membrane, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular space, GO:0031625, GO:0031386, GO:0005515, GO:0003723, GO:0002020, ubiquitin protein ligase binding, protein tag, protein binding, RNA binding, protease binding, GO:0075733, GO:0070987, GO:0070911, GO:0070498, GO:0070423, GO:0061418, GO:0061024, GO:0055085, GO:0051403, GO:0051092, GO:0045944, GO:0044267, GO:0043488, GO:0043066, GO:0043065, GO:0042769, GO:0042276, GO:0036297, GO:0035666, GO:0033683, GO:0031145, GO:0030512, GO:0019985, GO:0019941, GO:0019221, GO:0019068, GO:0019058, GO:0016579, GO:0016567, GO:0016567, GO:0016197, GO:0016055, GO:0007254, GO:0007249, GO:0007179, GO:0006625, GO:0006297, GO:0006296, GO:0006294, GO:0006283, GO:0002756, GO:0002755, GO:0000717, GO:0000715, GO:0000209, GO:0000187, GO:0000122, intracellular transport of virus, error-free translesion synthesis, global genome nucleotide-excision repair, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, membrane organization, transmembrane transport, stress-activated MAPK cascade, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription by RNA polymerase II, cellular protein metabolic process, regulation of mRNA stability, negative regulation of apoptotic process, positive regulation of apoptotic process, DNA damage response, detection of DNA damage, error-prone translesion synthesis, interstrand cross-link repair, TRIF-dependent toll-like receptor signaling pathway, nucleotide-excision repair, DNA incision, anaphase-promoting complex-dependent catabolic process, negative regulation of transforming growth factor beta receptor signaling pathway, translesion synthesis, modification-dependent protein catabolic process, cytokine-mediated signaling pathway, virion assembly, viral life cycle, protein deubiquitination, protein ubiquitination, protein ubiquitination, endosomal transport, Wnt signaling pathway, JNK cascade, I-kappaB kinase/NF-kappaB signaling, transforming growth factor beta receptor signaling pathway, protein targeting to peroxisome, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, preincision complex assembly, transcription-coupled nucleotide-excision repair, MyD88-independent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, protein polyubiquitination, activation of MAPK activity, negative regulation of transcription by RNA polymerase II, 15719 17372 18295 48370 85829 55116 35406 52288 41817 ENSG00000150995 chr3 4493345 4847840 + ITPR1 protein_coding This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]. 3708 GO:0048471, GO:0031095, GO:0031094, GO:0031088, GO:0030667, GO:0030659, GO:0030658, GO:0016529, GO:0016021, GO:0016020, GO:0014069, GO:0005955, GO:0005886, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0005730, GO:0005637, perinuclear region of cytoplasm, platelet dense tubular network membrane, platelet dense tubular network, platelet dense granule membrane, secretory granule membrane, cytoplasmic vesicle membrane, transport vesicle membrane, sarcoplasmic reticulum, integral component of membrane, membrane, postsynaptic density, calcineurin complex, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nucleolus, nuclear inner membrane, GO:0070679, GO:0035091, GO:0035091, GO:0019855, GO:0015278, GO:0015085, GO:0005515, GO:0005509, GO:0005220, GO:0005220, GO:0005220, inositol 1,4,5 trisphosphate binding, phosphatidylinositol binding, phosphatidylinositol binding, calcium channel inhibitor activity, calcium-release channel activity, calcium ion transmembrane transporter activity, protein binding, calcium ion binding, inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, GO:1903779, GO:0070059, GO:0051209, GO:0051209, GO:0050882, GO:0050849, GO:0050796, GO:0048016, GO:0042045, GO:0032469, GO:0030168, GO:0010506, GO:0009791, GO:0007165, GO:0006816, GO:0001666, regulation of cardiac conduction, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, voluntary musculoskeletal movement, negative regulation of calcium-mediated signaling, regulation of insulin secretion, inositol phosphate-mediated signaling, epithelial fluid transport, endoplasmic reticulum calcium ion homeostasis, platelet activation, regulation of autophagy, post-embryonic development, signal transduction, calcium ion transport, response to hypoxia, 358 417 622 243 300 369 304 218 338 ENSG00000151005 chr4 163471093 163473746 - TKTL2 protein_coding 84076 GO:0005737, cytoplasm, GO:0046872, GO:0030976, GO:0004802, metal ion binding, thiamine pyrophosphate binding, transketolase activity, 0 0 0 0 0 0 0 0 0 ENSG00000151006 chr16 31083425 31089628 - PRSS53 protein_coding 339105 GO:0005576, extracellular region, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 11 16 17 40 35 23 44 35 21 ENSG00000151012 chr4 138164097 138242349 - SLC7A11 protein_coding This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011]. 23657 GO:0097449, GO:0045177, GO:0031526, GO:0016021, GO:0009986, GO:0005886, GO:0005856, GO:0005791, astrocyte projection, apical part of cell, brush border membrane, integral component of membrane, cell surface, plasma membrane, cytoskeleton, rough endoplasmic reticulum, GO:0015327, GO:0015179, GO:0005515, cystine:glutamate antiporter activity, L-amino acid transmembrane transporter activity, protein binding, GO:2000211, GO:1904717, GO:1903786, GO:1903204, GO:1901494, GO:0140206, GO:0098712, GO:0090461, GO:0070527, GO:0070306, GO:0060173, GO:0051775, GO:0051223, GO:0050900, GO:0050804, GO:0048286, GO:0048021, GO:0042127, GO:0035094, GO:0034775, GO:0034599, GO:0033029, GO:0030534, GO:0021756, GO:0021591, GO:0014070, GO:0009636, GO:0008542, GO:0006865, GO:0006749, GO:0003333, regulation of glutamate metabolic process, regulation of AMPA glutamate receptor clustering, regulation of glutathione biosynthetic process, negative regulation of oxidative stress-induced neuron death, regulation of cysteine metabolic process, dipeptide import across plasma membrane, L-glutamate import across plasma membrane, glutamate homeostasis, platelet aggregation, lens fiber cell differentiation, limb development, response to redox state, regulation of protein transport, leukocyte migration, modulation of chemical synaptic transmission, lung alveolus development, regulation of melanin biosynthetic process, regulation of cell population proliferation, response to nicotine, glutathione transmembrane transport, cellular response to oxidative stress, regulation of neutrophil apoptotic process, adult behavior, striatum development, ventricular system development, response to organic cyclic compound, response to toxic substance, visual learning, amino acid transport, glutathione metabolic process, amino acid transmembrane transport, 40 63 114 39 65 68 43 35 40 ENSG00000151014 chr4 139015789 139045939 + NOCT protein_coding The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq, Jul 2008]. 25819 GO:0048471, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0000932, perinuclear region of cytoplasm, mitochondrion, cytoplasm, nucleoplasm, nucleus, P-body, GO:0102757, GO:0046872, GO:0019178, GO:0004535, GO:0003729, GO:0000175, NADPH phosphatase activity, metal ion binding, NADP phosphatase activity, poly(A)-specific ribonuclease activity, mRNA binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0048255, GO:0045995, GO:0045668, GO:0045600, GO:0042752, GO:0033962, GO:0032922, GO:0032496, GO:0016311, GO:0010629, GO:0009991, GO:0007623, GO:0006739, GO:0006366, GO:0000290, RNA phosphodiester bond hydrolysis, exonucleolytic, mRNA stabilization, regulation of embryonic development, negative regulation of osteoblast differentiation, positive regulation of fat cell differentiation, regulation of circadian rhythm, P-body assembly, circadian regulation of gene expression, response to lipopolysaccharide, dephosphorylation, negative regulation of gene expression, response to extracellular stimulus, circadian rhythm, NADP metabolic process, transcription by RNA polymerase II, deadenylation-dependent decapping of nuclear-transcribed mRNA, 16 27 44 44 62 66 33 33 56 ENSG00000151023 chr10 24981979 25062279 - ENKUR protein_coding This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 219670 GO:0097729, GO:0097728, GO:0097228, GO:0001669, 9+2 motile cilium, 9+0 motile cilium, sperm principal piece, acrosomal vesicle, GO:0017124, GO:0005516, GO:0005515, SH3 domain binding, calmodulin binding, protein binding, GO:0061966, GO:0030317, establishment of left/right asymmetry, flagellated sperm motility, 3 2 0 3 0 2 1 0 0 ENSG00000151025 chr10 25174802 25602226 + GPR158 protein_coding 57512 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0072659, GO:0007186, protein localization to plasma membrane, G protein-coupled receptor signaling pathway, 0 0 0 3 0 0 0 0 0 ENSG00000151033 chr10 30611779 30629762 - LYZL2 protein_coding Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL2 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009]. 119180 GO:0005576, extracellular region, GO:0003796, lysozyme activity, GO:0008152, metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000151062 chr12 1791957 1918836 - CACNA2D4 protein_coding This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 93589 GO:0005891, GO:0005891, GO:0005886, voltage-gated calcium channel complex, voltage-gated calcium channel complex, plasma membrane, GO:0046872, GO:0005245, GO:0005245, metal ion binding, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:0070588, GO:0061337, GO:0050908, GO:0034765, calcium ion transmembrane transport, cardiac conduction, detection of light stimulus involved in visual perception, regulation of ion transmembrane transport, 24 34 41 20 24 33 33 27 41 ENSG00000151065 chr12 1946054 2004535 - DCP1B protein_coding This gene encodes a member of a family of proteins that function in removing the 5' cap from mRNAs, which is a step in regulated mRNA decay. This protein localizes to cytoplasmic foci which are the site of mRNA breakdown and turnover. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 196513 GO:0043231, GO:0016020, GO:0005829, GO:0005829, GO:0005634, GO:0000932, intracellular membrane-bounded organelle, membrane, cytosol, cytosol, nucleus, P-body, GO:0030234, GO:0016787, GO:0008047, GO:0005515, GO:0003729, enzyme regulator activity, hydrolase activity, enzyme activator activity, protein binding, mRNA binding, GO:0043928, GO:0043085, GO:0031087, GO:0000290, GO:0000184, exonucleolytic catabolism of deadenylated mRNA, positive regulation of catalytic activity, deadenylation-independent decapping of nuclear-transcribed mRNA, deadenylation-dependent decapping of nuclear-transcribed mRNA, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 5 1 8 25 9 37 18 13 21 ENSG00000151067 chr12 1970786 2697950 + CACNA1C protein_coding This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]. 775 GO:1990454, GO:0098839, GO:0043204, GO:0030425, GO:0030018, GO:0016021, GO:0014069, GO:0005891, GO:0005887, GO:0005886, GO:0005886, GO:0005737, L-type voltage-gated calcium channel complex, postsynaptic density membrane, perikaryon, dendrite, Z disc, integral component of membrane, postsynaptic density, voltage-gated calcium channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0086056, GO:0086007, GO:0086007, GO:0051393, GO:0046872, GO:0008331, GO:0008331, GO:0008331, GO:0005516, GO:0005515, GO:0005245, GO:0005245, GO:0005245, voltage-gated calcium channel activity involved in AV node cell action potential, voltage-gated calcium channel activity involved in cardiac muscle cell action potential, voltage-gated calcium channel activity involved in cardiac muscle cell action potential, alpha-actinin binding, metal ion binding, high voltage-gated calcium channel activity, high voltage-gated calcium channel activity, high voltage-gated calcium channel activity, calmodulin binding, protein binding, voltage-gated calcium channel activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:0098912, GO:0098911, GO:0086091, GO:0086064, GO:0086045, GO:0086012, GO:0086002, GO:0070588, GO:0070588, GO:0070509, GO:0061577, GO:0061337, GO:0061337, GO:0060402, GO:0060402, GO:0050796, GO:0045762, GO:0043010, GO:0035585, GO:0035115, GO:0016032, GO:0010881, GO:0010881, GO:0007507, GO:0007204, GO:0006816, GO:0002520, membrane depolarization during atrial cardiac muscle cell action potential, regulation of ventricular cardiac muscle cell action potential, regulation of heart rate by cardiac conduction, cell communication by electrical coupling involved in cardiac conduction, membrane depolarization during AV node cell action potential, membrane depolarization during cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, calcium ion transmembrane transport, calcium ion transmembrane transport, calcium ion import, calcium ion transmembrane transport via high voltage-gated calcium channel, cardiac conduction, cardiac conduction, calcium ion transport into cytosol, calcium ion transport into cytosol, regulation of insulin secretion, positive regulation of adenylate cyclase activity, camera-type eye development, calcium-mediated signaling using extracellular calcium source, embryonic forelimb morphogenesis, viral process, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, heart development, positive regulation of cytosolic calcium ion concentration, calcium ion transport, immune system development, 0 1 5 23 1 15 13 2 7 ENSG00000151079 chr12 4809176 4813412 + KCNA6 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]. 3742 GO:0043679, GO:0034705, GO:0016021, GO:0008076, GO:0008076, GO:0005887, GO:0005887, GO:0005886, axon terminus, potassium channel complex, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005251, GO:0005251, GO:0005249, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0051260, GO:0034765, GO:0006813, potassium ion transmembrane transport, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000151090 chr3 24117153 24495756 - THRB protein_coding The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]. 7068 GO:0016604, GO:0005654, GO:0005634, GO:0000785, nuclear body, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0070324, GO:0031490, GO:0019899, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0003677, GO:0001225, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, thyroid hormone binding, chromatin DNA binding, enzyme binding, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA binding, RNA polymerase II transcription coactivator binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097474, GO:0097067, GO:0060509, GO:0046549, GO:0045944, GO:0042480, GO:0030154, GO:0009755, GO:0008050, GO:0008016, GO:0007621, GO:0007605, GO:0006367, GO:0006351, GO:0002154, GO:0000122, retinal cone cell apoptotic process, cellular response to thyroid hormone stimulus, type I pneumocyte differentiation, retinal cone cell development, positive regulation of transcription by RNA polymerase II, negative regulation of eye photoreceptor cell development, cell differentiation, hormone-mediated signaling pathway, female courtship behavior, regulation of heart contraction, negative regulation of female receptivity, sensory perception of sound, transcription initiation from RNA polymerase II promoter, transcription, DNA-templated, thyroid hormone mediated signaling pathway, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 1 0 0 ENSG00000151092 chr3 25718944 25790039 - NGLY1 protein_coding This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]. 55768 GO:0005829, GO:0005829, GO:0005737, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, GO:0046872, GO:0005515, GO:0000224, GO:0000224, GO:0000224, metal ion binding, protein binding, peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity, peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity, peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity, GO:0006517, GO:0006517, GO:0006517, GO:0006516, GO:0006516, GO:0006515, GO:0006457, protein deglycosylation, protein deglycosylation, protein deglycosylation, glycoprotein catabolic process, glycoprotein catabolic process, protein quality control for misfolded or incompletely synthesized proteins, protein folding, 522 481 593 547 638 629 548 411 451 ENSG00000151093 chr3 25782917 25794534 + OXSM protein_coding This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]. 54995 GO:0005829, GO:0005739, GO:0005739, cytosol, mitochondrion, mitochondrion, GO:0004315, GO:0004315, 3-oxoacyl-[acyl-carrier-protein] synthase activity, 3-oxoacyl-[acyl-carrier-protein] synthase activity, GO:0051792, GO:0051790, GO:0006637, GO:0006633, medium-chain fatty acid biosynthetic process, short-chain fatty acid biosynthetic process, acyl-CoA metabolic process, fatty acid biosynthetic process, 59 61 58 139 346 156 153 279 113 ENSG00000151116 chr11 18529609 18588747 - UEVLD protein_coding 55293 GO:0070062, extracellular exosome, GO:0016616, GO:0003674, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, molecular_function, GO:0055114, GO:0019752, GO:0015031, GO:0008150, GO:0006464, GO:0005975, oxidation-reduction process, carboxylic acid metabolic process, protein transport, biological_process, cellular protein modification process, carbohydrate metabolic process, 116 126 100 79 115 115 98 67 83 ENSG00000151117 chr11 18693122 18704785 + TMEM86A protein_coding 144110 GO:0016021, integral component of membrane, GO:0047409, GO:0047408, GO:0005515, alkenylglycerophosphoethanolamine hydrolase activity, alkenylglycerophosphocholine hydrolase activity, protein binding, 2 8 4 7 5 9 3 0 0 ENSG00000151131 chr12 104986310 105074197 + C12orf45 protein_coding 121053 3 12 7 12 3 23 12 2 11 ENSG00000151135 chr12 106955719 106978778 + TMEM263 protein_coding 90488 GO:0016021, integral component of membrane, 69 40 120 118 53 139 107 51 87 ENSG00000151136 chr12 107318413 107659642 + BTBD11 protein_coding 121551 GO:0016021, integral component of membrane, GO:0046982, protein heterodimerization activity, GO:0060395, SMAD protein signal transduction, 261 263 320 127 186 215 137 152 204 ENSG00000151148 chr12 109477402 109536705 + UBE3B protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]. 89910 GO:0006511, GO:0000209, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 356 382 446 337 447 509 336 368 388 ENSG00000151150 chr10 60026298 60733490 - ANK3 protein_coding Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]. 288 GO:0045211, GO:0043194, GO:0043194, GO:0043034, GO:0043005, GO:0043005, GO:0042383, GO:0033268, GO:0031594, GO:0030425, GO:0030315, GO:0030018, GO:0016529, GO:0016328, GO:0016323, GO:0014731, GO:0014704, GO:0009986, GO:0009925, GO:0005923, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005783, GO:0005764, postsynaptic membrane, axon initial segment, axon initial segment, costamere, neuron projection, neuron projection, sarcolemma, node of Ranvier, neuromuscular junction, dendrite, T-tubule, Z disc, sarcoplasmic reticulum, lateral plasma membrane, basolateral plasma membrane, spectrin-associated cytoskeleton, intercalated disc, cell surface, basal plasma membrane, bicellular tight junction, plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, lysosome, GO:0045296, GO:0044325, GO:0044325, GO:0030674, GO:0030507, GO:0030507, GO:0008093, GO:0008092, GO:0005515, GO:0005200, cadherin binding, ion channel binding, ion channel binding, protein-macromolecule adaptor activity, spectrin binding, spectrin binding, cytoskeletal anchor activity, cytoskeletal protein binding, protein binding, structural constituent of cytoskeleton, GO:2001259, GO:2000651, GO:1902260, GO:1900827, GO:0099612, GO:0090314, GO:0072660, GO:0072659, GO:0072659, GO:0072659, GO:0072659, GO:0071709, GO:0071709, GO:0071286, GO:0045838, GO:0045184, GO:0043266, GO:0043001, GO:0034112, GO:0019228, GO:0010960, GO:0010765, GO:0010650, GO:0010628, GO:0007528, GO:0007409, GO:0007165, GO:0007010, GO:0007009, GO:0006888, GO:0000281, positive regulation of cation channel activity, positive regulation of sodium ion transmembrane transporter activity, negative regulation of delayed rectifier potassium channel activity, positive regulation of membrane depolarization during cardiac muscle cell action potential, protein localization to axon, positive regulation of protein targeting to membrane, maintenance of protein location in plasma membrane, protein localization to plasma membrane, protein localization to plasma membrane, protein localization to plasma membrane, protein localization to plasma membrane, membrane assembly, membrane assembly, cellular response to magnesium ion, positive regulation of membrane potential, establishment of protein localization, regulation of potassium ion transport, Golgi to plasma membrane protein transport, positive regulation of homotypic cell-cell adhesion, neuronal action potential, magnesium ion homeostasis, positive regulation of sodium ion transport, positive regulation of cell communication by electrical coupling, positive regulation of gene expression, neuromuscular junction development, axonogenesis, signal transduction, cytoskeleton organization, plasma membrane organization, endoplasmic reticulum to Golgi vesicle-mediated transport, mitotic cytokinesis, 45 6 24 71 2 36 76 4 25 ENSG00000151151 chr10 58191517 58267934 - IPMK protein_coding This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]. 253430 GO:0005737, GO:0005654, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0102732, GO:0097243, GO:0052812, GO:0051765, GO:0047326, GO:0046934, GO:0046872, GO:0016301, GO:0008440, GO:0008440, GO:0008440, GO:0005524, GO:0005515, GO:0000825, GO:0000825, GO:0000824, GO:0000823, myo-inositol-1,2,3,4,6-heptakisphosphate 5-kinase activity, flavonoid binding, phosphatidylinositol-3,4-bisphosphate 5-kinase activity, inositol tetrakisphosphate kinase activity, inositol tetrakisphosphate 5-kinase activity, phosphatidylinositol-4,5-bisphosphate 3-kinase activity, metal ion binding, kinase activity, inositol-1,4,5-trisphosphate 3-kinase activity, inositol-1,4,5-trisphosphate 3-kinase activity, inositol-1,4,5-trisphosphate 3-kinase activity, ATP binding, protein binding, inositol tetrakisphosphate 6-kinase activity, inositol tetrakisphosphate 6-kinase activity, inositol tetrakisphosphate 3-kinase activity, inositol-1,4,5-trisphosphate 6-kinase activity, GO:0070266, GO:0046854, GO:0043647, GO:0032958, GO:0032957, necroptotic process, phosphatidylinositol phosphorylation, inositol phosphate metabolic process, inositol phosphate biosynthetic process, inositol trisphosphate metabolic process, 4052 3906 2798 1213 2081 1083 1601 1637 840 ENSG00000151164 chr12 110501655 110532086 + RAD9B protein_coding 144715 GO:0030896, GO:0005654, GO:0005634, checkpoint clamp complex, nucleoplasm, nucleus, GO:0008408, GO:0005515, 3'-5' exonuclease activity, protein binding, GO:1901796, GO:0090305, GO:0071479, GO:0031573, GO:0006281, GO:0006260, GO:0000076, regulation of signal transduction by p53 class mediator, nucleic acid phosphodiester bond hydrolysis, cellular response to ionizing radiation, intra-S DNA damage checkpoint, DNA repair, DNA replication, DNA replication checkpoint, 3 6 1 0 3 0 7 2 0 ENSG00000151176 chr12 113358566 113391625 + PLBD2 protein_coding 196463 GO:0070062, GO:0043202, GO:0005576, extracellular exosome, lysosomal lumen, extracellular region, GO:0005515, GO:0004620, protein binding, phospholipase activity, GO:0009395, phospholipid catabolic process, 13 19 48 41 28 53 17 20 76 ENSG00000151208 chr10 77790791 77926526 - DLG5 protein_coding This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]. 9231 GO:0036064, GO:0030054, GO:0014069, GO:0005912, GO:0005886, GO:0005737, ciliary basal body, cell junction, postsynaptic density, adherens junction, plasma membrane, cytoplasm, GO:0030159, GO:0008092, GO:0008013, GO:0005515, signaling receptor complex adaptor activity, cytoskeletal protein binding, beta-catenin binding, protein binding, GO:0098609, GO:0072205, GO:0071896, GO:0065003, GO:0060999, GO:0060441, GO:0051965, GO:0045880, GO:0045197, GO:0045186, GO:0045176, GO:0042981, GO:0042130, GO:0035556, GO:0035332, GO:0035331, GO:0030901, GO:0030859, GO:0030336, GO:0030011, GO:0008285, GO:0007165, GO:0001837, cell-cell adhesion, metanephric collecting duct development, protein localization to adherens junction, protein-containing complex assembly, positive regulation of dendritic spine development, epithelial tube branching involved in lung morphogenesis, positive regulation of synapse assembly, positive regulation of smoothened signaling pathway, establishment or maintenance of epithelial cell apical/basal polarity, zonula adherens assembly, apical protein localization, regulation of apoptotic process, negative regulation of T cell proliferation, intracellular signal transduction, positive regulation of hippo signaling, negative regulation of hippo signaling, midbrain development, polarized epithelial cell differentiation, negative regulation of cell migration, maintenance of cell polarity, negative regulation of cell population proliferation, signal transduction, epithelial to mesenchymal transition, 0 0 0 0 0 0 0 0 0 ENSG00000151224 chr10 80271820 80289684 - MAT1A protein_coding This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]. 4143 GO:0005829, GO:0005829, cytosol, cytosol, GO:0046872, GO:0042802, GO:0005524, GO:0005515, GO:0004478, GO:0004478, metal ion binding, identical protein binding, ATP binding, protein binding, methionine adenosyltransferase activity, methionine adenosyltransferase activity, GO:0051289, GO:0032259, GO:0009087, GO:0006730, GO:0006556, GO:0006556, GO:0006556, GO:0001887, GO:0000096, protein homotetramerization, methylation, methionine catabolic process, one-carbon metabolic process, S-adenosylmethionine biosynthetic process, S-adenosylmethionine biosynthetic process, S-adenosylmethionine biosynthetic process, selenium compound metabolic process, sulfur amino acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000151229 chr12 39755021 40106089 - SLC2A13 protein_coding 114134 GO:0097450, GO:0071944, GO:0071944, GO:0044297, GO:0044297, GO:0043231, GO:0042995, GO:0031090, GO:0030426, GO:0016020, GO:0008021, GO:0005887, GO:0005886, GO:0005769, GO:0005764, GO:0005737, astrocyte end-foot, cell periphery, cell periphery, cell body, cell body, intracellular membrane-bounded organelle, cell projection, organelle membrane, growth cone, membrane, synaptic vesicle, integral component of plasma membrane, plasma membrane, early endosome, lysosome, cytoplasm, GO:0051117, GO:0005515, GO:0005366, GO:0005366, GO:0005366, GO:0005365, GO:0002020, GO:0002020, ATPase binding, protein binding, myo-inositol:proton symporter activity, myo-inositol:proton symporter activity, myo-inositol:proton symporter activity, myo-inositol transmembrane transporter activity, protease binding, protease binding, GO:1902004, GO:0150104, GO:0055085, GO:0015798, GO:0015798, GO:0015798, positive regulation of amyloid-beta formation, transport across blood-brain barrier, transmembrane transport, myo-inositol transport, myo-inositol transport, myo-inositol transport, 11 26 16 22 20 14 22 21 24 ENSG00000151233 chr12 42081845 42144879 - GXYLT1 protein_coding GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]. 283464 GO:0016021, integral component of membrane, GO:0035252, GO:0035252, UDP-xylosyltransferase activity, UDP-xylosyltransferase activity, GO:0016266, GO:0016266, O-glycan processing, O-glycan processing, 208 217 297 141 100 225 180 114 133 ENSG00000151239 chr12 43793723 43806375 - TWF1 protein_coding This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008]. 5756 GO:0048471, GO:0032587, GO:0030175, GO:0030016, GO:0030016, GO:0015629, GO:0005925, GO:0005911, GO:0005884, GO:0005829, GO:0005737, perinuclear region of cytoplasm, ruffle membrane, filopodium, myofibril, myofibril, actin cytoskeleton, focal adhesion, cell-cell junction, actin filament, cytosol, cytoplasm, GO:0051015, GO:0045296, GO:0005546, GO:0005524, GO:0005515, GO:0004713, GO:0003785, GO:0003785, GO:0003779, actin filament binding, cadherin binding, phosphatidylinositol-4,5-bisphosphate binding, ATP binding, protein binding, protein tyrosine kinase activity, actin monomer binding, actin monomer binding, actin binding, GO:0051016, GO:0043538, GO:0042989, GO:0042989, GO:0030837, GO:0030042, GO:0018108, GO:0010976, GO:0010591, barbed-end actin filament capping, regulation of actin phosphorylation, sequestering of actin monomers, sequestering of actin monomers, negative regulation of actin filament polymerization, actin filament depolymerization, peptidyl-tyrosine phosphorylation, positive regulation of neuron projection development, regulation of lamellipodium assembly, 376 265 421 189 206 210 197 164 188 ENSG00000151240 chr10 274190 689668 - DIP2C protein_coding This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]. 22982 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 3 2 4 7 2 8 10 2 23 ENSG00000151247 chr4 98871684 98930637 - EIF4E protein_coding The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 1977 GO:0099524, GO:0098978, GO:0070062, GO:0048471, GO:0036464, GO:0033391, GO:0016442, GO:0016281, GO:0016281, GO:0010494, GO:0005845, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0000932, postsynaptic cytosol, glutamatergic synapse, extracellular exosome, perinuclear region of cytoplasm, cytoplasmic ribonucleoprotein granule, chromatoid body, RISC complex, eukaryotic translation initiation factor 4F complex, eukaryotic translation initiation factor 4F complex, cytoplasmic stress granule, mRNA cap binding complex, cytosol, cytosol, cytoplasm, nucleus, P-body, GO:0070491, GO:0031370, GO:0019899, GO:0005515, GO:0003743, GO:0003743, GO:0003743, GO:0003723, GO:0000340, GO:0000340, GO:0000339, repressing transcription factor binding, eukaryotic initiation factor 4G binding, enzyme binding, protein binding, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, RNA binding, RNA 7-methylguanosine cap binding, RNA 7-methylguanosine cap binding, RNA cap binding, GO:0071549, GO:0045931, GO:0045665, GO:0030324, GO:0019827, GO:0017148, GO:0016032, GO:0010507, GO:0006417, GO:0006413, GO:0006406, GO:0006405, GO:0001662, GO:0000082, cellular response to dexamethasone stimulus, positive regulation of mitotic cell cycle, negative regulation of neuron differentiation, lung development, stem cell population maintenance, negative regulation of translation, viral process, negative regulation of autophagy, regulation of translation, translational initiation, mRNA export from nucleus, RNA export from nucleus, behavioral fear response, G1/S transition of mitotic cell cycle, 95 99 94 109 136 139 94 97 98 ENSG00000151276 chr3 65353525 66038834 - MAGI1 protein_coding The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 9223 GO:0071944, GO:0042995, GO:0030054, GO:0005923, GO:0005912, GO:0005911, GO:0005911, GO:0005886, GO:0005737, GO:0005737, GO:0005730, GO:0005654, cell periphery, cell projection, cell junction, bicellular tight junction, adherens junction, cell-cell junction, cell-cell junction, plasma membrane, cytoplasm, cytoplasm, nucleolus, nucleoplasm, GO:0060090, GO:0051393, GO:0008022, GO:0005524, GO:0005515, molecular adaptor activity, alpha-actinin binding, protein C-terminus binding, ATP binding, protein binding, GO:0065003, GO:0022409, GO:0007166, GO:0007165, GO:0007155, protein-containing complex assembly, positive regulation of cell-cell adhesion, cell surface receptor signaling pathway, signal transduction, cell adhesion, 0 0 0 1 0 0 0 0 0 ENSG00000151287 chr13 102765990 102773811 - TEX30 protein_coding 93081 GO:0016787, hydrolase activity, 44 41 43 31 21 41 25 16 10 ENSG00000151292 chr5 123512099 123617045 + CSNK1G3 protein_coding This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 1456 GO:0005886, GO:0005737, GO:0005634, plasma membrane, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0090263, GO:0018105, GO:0018105, GO:0016055, GO:0007165, GO:0006897, GO:0006464, positive regulation of canonical Wnt signaling pathway, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, signal transduction, endocytosis, cellular protein modification process, 211 124 246 138 143 166 150 114 165 ENSG00000151303 chr10 86992406 87010203 + AL136982.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000151304 chr5 121961961 122075570 + SRFBP1 protein_coding 153443 GO:0048471, GO:0030686, GO:0005634, perinuclear region of cytoplasm, 90S preribosome, nucleus, GO:0003723, RNA binding, GO:0030490, maturation of SSU-rRNA, 4 2 5 18 7 13 13 0 16 ENSG00000151320 chr14 32329273 32837681 + AKAP6 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]. 9472 GO:0048471, GO:0048471, GO:0048471, GO:0034704, GO:0031965, GO:0030315, GO:0016529, GO:0016529, GO:0014704, GO:0014701, GO:0005901, GO:0005737, GO:0005635, perinuclear region of cytoplasm, perinuclear region of cytoplasm, perinuclear region of cytoplasm, calcium channel complex, nuclear membrane, T-tubule, sarcoplasmic reticulum, sarcoplasmic reticulum, intercalated disc, junctional sarcoplasmic reticulum membrane, caveola, cytoplasm, nuclear envelope, GO:0060090, GO:0051018, GO:0051018, GO:0051018, GO:0044325, GO:0044325, GO:0043495, GO:0034237, GO:0008179, GO:0005515, molecular adaptor activity, protein kinase A binding, protein kinase A binding, protein kinase A binding, ion channel binding, ion channel binding, protein-membrane adaptor activity, protein kinase A regulatory subunit binding, adenylate cyclase binding, protein binding, GO:1902261, GO:1901381, GO:0071345, GO:0071320, GO:0070886, GO:0061051, GO:0060316, GO:0060306, GO:0051281, GO:0030307, GO:0019933, GO:0010880, GO:0010738, GO:0006605, GO:0001508, positive regulation of delayed rectifier potassium channel activity, positive regulation of potassium ion transmembrane transport, cellular response to cytokine stimulus, cellular response to cAMP, positive regulation of calcineurin-NFAT signaling cascade, positive regulation of cell growth involved in cardiac muscle cell development, positive regulation of ryanodine-sensitive calcium-release channel activity, regulation of membrane repolarization, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of cell growth, cAMP-mediated signaling, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of protein kinase A signaling, protein targeting, action potential, 0 1 2 0 0 0 0 1 3 ENSG00000151322 chr14 32934933 33804176 + NPAS3 protein_coding This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 64067 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:0046982, GO:0000981, GO:0000981, GO:0000977, protein heterodimerization activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045893, GO:0006357, positive regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000151327 chr14 35044907 35113130 + FAM177A1 protein_coding This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]. 283635 672 803 1038 551 695 685 779 617 615 ENSG00000151332 chr14 36298558 36320676 - MBIP protein_coding 51562 GO:0005829, GO:0005829, GO:0005730, GO:0005671, GO:0005654, cytosol, cytosol, nucleolus, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, GO:0042802, GO:0005515, GO:0004860, identical protein binding, protein binding, protein kinase inhibitor activity, GO:0043966, GO:0000173, histone H3 acetylation, inactivation of MAPK activity involved in osmosensory signaling pathway, 16 18 23 25 16 27 24 20 48 ENSG00000151338 chr14 37197913 37552361 + MIPOL1 protein_coding This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]. 145282 GO:0005634, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, 0 0 1 1 0 0 0 0 0 ENSG00000151348 chr11 44095549 44245429 + EXT2 protein_coding This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]. 2132 GO:0070062, GO:0043541, GO:0016021, GO:0016020, GO:0005794, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0000139, extracellular exosome, UDP-N-acetylglucosamine transferase complex, integral component of membrane, membrane, Golgi apparatus, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0050509, GO:0050509, GO:0050508, GO:0046982, GO:0046872, GO:0042803, GO:0042328, GO:0016757, GO:0016757, GO:0015020, GO:0008375, GO:0005515, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, protein heterodimerization activity, metal ion binding, protein homodimerization activity, heparan sulfate N-acetylglucosaminyltransferase activity, transferase activity, transferring glycosyl groups, transferase activity, transferring glycosyl groups, glucuronosyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0060350, GO:0060047, GO:0055078, GO:0050891, GO:0044344, GO:0042311, GO:0042044, GO:0033692, GO:0030210, GO:0030154, GO:0015014, GO:0015012, GO:0008217, GO:0007165, GO:0006486, GO:0006024, GO:0006024, GO:0001707, GO:0001503, endochondral bone morphogenesis, heart contraction, sodium ion homeostasis, multicellular organismal water homeostasis, cellular response to fibroblast growth factor stimulus, vasodilation, fluid transport, cellular polysaccharide biosynthetic process, heparin biosynthetic process, cell differentiation, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, heparan sulfate proteoglycan biosynthetic process, regulation of blood pressure, signal transduction, protein glycosylation, glycosaminoglycan biosynthetic process, glycosaminoglycan biosynthetic process, mesoderm formation, ossification, 101 107 161 84 78 114 80 87 86 ENSG00000151353 chr2 667335 677439 - TMEM18 protein_coding 129787 GO:0031965, GO:0016021, GO:0005737, nuclear membrane, integral component of membrane, cytoplasm, GO:0003677, DNA binding, GO:0016477, cell migration, 25 27 46 67 37 68 49 24 21 ENSG00000151360 chr2 3658195 3702671 + ALLC protein_coding Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]. 55821 GO:0004037, allantoicase activity, GO:0000256, allantoin catabolic process, 0 0 0 0 0 0 3 0 0 ENSG00000151364 chr11 78015715 78046191 - KCTD14 protein_coding 65987 GO:0005515, protein binding, GO:0051260, protein homooligomerization, 0 0 0 3 0 0 0 0 0 ENSG00000151365 chr11 78063861 78068351 + THRSP protein_coding The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008]. 7069 GO:0005829, GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, cytosol, nucleoplasm, GO:0042803, GO:0042802, GO:0005515, protein homodimerization activity, identical protein binding, protein binding, GO:0046890, GO:0046890, GO:0010866, GO:0009617, GO:0006853, GO:0006629, regulation of lipid biosynthetic process, regulation of lipid biosynthetic process, regulation of triglyceride biosynthetic process, response to bacterium, carnitine shuttle, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000151366 chr11 78068304 78080219 - NDUFC2 protein_coding 4718 GO:0035577, GO:0016021, GO:0005886, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, GO:0005737, azurophil granule membrane, integral component of membrane, plasma membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, cytoplasm, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0043312, GO:0032981, GO:0032981, GO:0006120, GO:0006120, neutrophil degranulation, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 11 16 10 6 9 16 6 9 9 ENSG00000151376 chr11 86441108 86672636 - ME3 protein_coding Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. 10873 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0070401, GO:0051287, GO:0046872, GO:0008948, GO:0004473, GO:0004473, GO:0004471, GO:0004470, GO:0004470, NADP+ binding, NAD binding, metal ion binding, oxaloacetate decarboxylase activity, malate dehydrogenase (decarboxylating) (NADP+) activity, malate dehydrogenase (decarboxylating) (NADP+) activity, malate dehydrogenase (decarboxylating) (NAD+) activity, malic enzyme activity, malic enzyme activity, GO:0072592, GO:0055114, GO:0009060, GO:0006108, GO:0006108, GO:0006099, GO:0006090, GO:0006090, oxygen metabolic process, oxidation-reduction process, aerobic respiration, malate metabolic process, malate metabolic process, tricarboxylic acid cycle, pyruvate metabolic process, pyruvate metabolic process, 1 1 6 7 1 17 6 2 5 ENSG00000151379 chr2 17816496 17817101 + MSGN1 protein_coding 343930 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0003682, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0007379, GO:0006357, GO:0001756, GO:0001707, cell differentiation, segment specification, regulation of transcription by RNA polymerase II, somitogenesis, mesoderm formation, 0 0 0 0 0 0 0 0 0 ENSG00000151388 chr5 33523535 33892192 - ADAMTS12 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]. 81792 GO:0031012, extracellular matrix, GO:0046872, GO:0005515, GO:0004222, GO:0004222, metal ion binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:2001113, GO:1902548, GO:1902203, GO:1901509, GO:0071773, GO:0071356, GO:0071347, GO:0051603, GO:0051603, GO:0050727, GO:0032331, GO:0030198, GO:0030167, GO:0016477, GO:0007160, negative regulation of cellular response to hepatocyte growth factor stimulus, negative regulation of cellular response to vascular endothelial growth factor stimulus, negative regulation of hepatocyte growth factor receptor signaling pathway, regulation of endothelial tube morphogenesis, cellular response to BMP stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-1, proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, regulation of inflammatory response, negative regulation of chondrocyte differentiation, extracellular matrix organization, proteoglycan catabolic process, cell migration, cell-matrix adhesion, 0 0 1 0 0 0 0 0 0 ENSG00000151413 chr14 31489956 31861224 + NUBPL protein_coding This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 80224 GO:0005886, GO:0005759, GO:0005739, GO:0005739, plasma membrane, mitochondrial matrix, mitochondrion, mitochondrion, GO:0051539, GO:0051539, GO:0046872, GO:0005524, GO:0005515, 4 iron, 4 sulfur cluster binding, 4 iron, 4 sulfur cluster binding, metal ion binding, ATP binding, protein binding, GO:0070584, GO:0032981, GO:0032981, GO:0032981, GO:0016226, mitochondrion morphogenesis, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, iron-sulfur cluster assembly, 7 4 2 15 5 7 7 4 6 ENSG00000151414 chr1 198156963 198322420 + NEK7 protein_coding NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]. 140609 GO:0005874, GO:0005815, GO:0005737, GO:0005654, GO:0000922, microtubule, microtubule organizing center, cytoplasm, nucleoplasm, spindle pole, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:1904355, GO:0051973, GO:0051225, GO:0032212, GO:0007346, GO:0006468, positive regulation of telomere capping, positive regulation of telomerase activity, spindle assembly, positive regulation of telomere maintenance via telomerase, regulation of mitotic cell cycle, protein phosphorylation, 1898 1851 1984 980 1700 1380 1151 1381 1167 ENSG00000151418 chr1 198523222 198540945 - ATP6V1G3 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 127124 GO:0016471, GO:0005886, GO:0005829, GO:0005829, vacuolar proton-transporting V-type ATPase complex, plasma membrane, cytosol, cytosol, GO:0051117, ATPase binding, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0008286, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, insulin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000151422 chr5 108747822 109196841 + FER protein_coding The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]. 2241 GO:0031234, GO:0031234, GO:0030054, GO:0030027, GO:0015630, GO:0015629, GO:0005938, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0000785, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, cell junction, lamellipodium, microtubule cytoskeleton, actin cytoskeleton, cell cortex, cytosol, cytosol, cytoplasm, nucleus, chromatin, GO:0008289, GO:0008157, GO:0005524, GO:0005515, GO:0005154, GO:0005102, GO:0004715, GO:0004715, GO:0004713, lipid binding, protein phosphatase 1 binding, ATP binding, protein binding, epidermal growth factor receptor binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0070102, GO:0051092, GO:0050904, GO:0048008, GO:0048008, GO:0046777, GO:0045087, GO:0044331, GO:0043304, GO:0042127, GO:0042058, GO:0038109, GO:0038095, GO:0038095, GO:0038083, GO:0038028, GO:0036119, GO:0036006, GO:0035556, GO:0035426, GO:0034614, GO:0034446, GO:0033007, GO:0032869, GO:0032496, GO:0031532, GO:0030838, GO:0030335, GO:0030154, GO:0019221, GO:0018108, GO:0010762, GO:0010591, GO:0008284, GO:0008284, GO:0008283, GO:0007260, GO:0007169, GO:0007155, GO:0006935, GO:0006468, GO:0001932, GO:0000226, interleukin-6-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, diapedesis, platelet-derived growth factor receptor signaling pathway, platelet-derived growth factor receptor signaling pathway, protein autophosphorylation, innate immune response, cell-cell adhesion mediated by cadherin, regulation of mast cell degranulation, regulation of cell population proliferation, regulation of epidermal growth factor receptor signaling pathway, Kit signaling pathway, Fc-epsilon receptor signaling pathway, Fc-epsilon receptor signaling pathway, peptidyl-tyrosine autophosphorylation, insulin receptor signaling pathway via phosphatidylinositol 3-kinase, response to platelet-derived growth factor, cellular response to macrophage colony-stimulating factor stimulus, intracellular signal transduction, extracellular matrix-cell signaling, cellular response to reactive oxygen species, substrate adhesion-dependent cell spreading, negative regulation of mast cell activation involved in immune response, cellular response to insulin stimulus, response to lipopolysaccharide, actin cytoskeleton reorganization, positive regulation of actin filament polymerization, positive regulation of cell migration, cell differentiation, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, regulation of fibroblast migration, regulation of lamellipodium assembly, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell population proliferation, tyrosine phosphorylation of STAT protein, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, chemotaxis, protein phosphorylation, regulation of protein phosphorylation, microtubule cytoskeleton organization, 21 11 24 26 14 26 12 21 30 ENSG00000151445 chr14 77426675 77457952 - VIPAS39 protein_coding This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]. 63894 GO:0055037, GO:0030897, GO:0005794, GO:0005770, GO:0005769, GO:0005737, GO:0005737, recycling endosome, HOPS complex, Golgi apparatus, late endosome, early endosome, cytoplasm, cytoplasm, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:0097352, GO:0043687, GO:0032963, GO:0030199, GO:0030154, GO:0017185, GO:0008333, GO:0008333, GO:0007283, GO:0007034, GO:0006886, GO:0006886, autophagosome maturation, post-translational protein modification, collagen metabolic process, collagen fibril organization, cell differentiation, peptidyl-lysine hydroxylation, endosome to lysosome transport, endosome to lysosome transport, spermatogenesis, vacuolar transport, intracellular protein transport, intracellular protein transport, 94 122 150 97 168 188 147 122 142 ENSG00000151458 chr4 124664052 124712732 - ANKRD50 protein_coding 57182 GO:0005768, endosome, GO:0005515, protein binding, GO:1990126, GO:0015031, retrograde transport, endosome to plasma membrane, protein transport, 88 76 102 74 87 69 64 57 48 ENSG00000151461 chr10 11920022 12043170 - UPF2 protein_coding This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]. 26019 GO:0048471, GO:0036464, GO:0035145, GO:0035145, GO:0005844, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, perinuclear region of cytoplasm, cytoplasmic ribonucleoprotein granule, exon-exon junction complex, exon-exon junction complex, polysome, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0042162, GO:0005515, GO:0003723, telomeric DNA binding, protein binding, RNA binding, GO:0031100, GO:0006406, GO:0001889, GO:0000184, GO:0000184, GO:0000184, animal organ regeneration, mRNA export from nucleus, liver development, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1371 1402 1498 656 1143 1129 828 985 846 ENSG00000151465 chr10 12195965 12250589 + CDC123 protein_coding 8872 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:1905143, GO:0051301, GO:0045948, GO:0008284, GO:0007050, eukaryotic translation initiation factor 2 complex assembly, cell division, positive regulation of translational initiation, positive regulation of cell population proliferation, cell cycle arrest, 886 658 818 377 759 597 470 617 572 ENSG00000151466 chr4 128864921 129093607 - SCLT1 protein_coding This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 132320 GO:0097539, GO:0071439, GO:0005829, GO:0005814, GO:0005813, ciliary transition fiber, clathrin complex, cytosol, centriole, centrosome, GO:0030276, GO:0017080, GO:0008022, clathrin binding, sodium channel regulator activity, protein C-terminus binding, GO:0097711, GO:0060271, GO:0045162, ciliary basal body-plasma membrane docking, cilium assembly, clustering of voltage-gated sodium channels, 1728 1375 1624 1256 1366 1199 1358 1118 1016 ENSG00000151468 chr10 12896625 13099652 - CCDC3 protein_coding 83643 GO:0005783, GO:0005576, GO:0005576, endoplasmic reticulum, extracellular region, extracellular region, GO:0051055, GO:0046889, GO:0045833, GO:0045600, GO:0010804, GO:0010629, GO:0010629, negative regulation of lipid biosynthetic process, positive regulation of lipid biosynthetic process, negative regulation of lipid metabolic process, positive regulation of fat cell differentiation, negative regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of gene expression, negative regulation of gene expression, 0 0 1 0 0 0 1 0 0 ENSG00000151470 chr4 129093317 129116640 + C4orf33 protein_coding 132321 GO:0005515, protein binding, 562 511 625 283 313 317 270 251 297 ENSG00000151474 chr10 13643706 14462142 - FRMD4A protein_coding This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 55691 GO:0005923, GO:0005912, GO:0005856, GO:0005737, bicellular tight junction, adherens junction, cytoskeleton, cytoplasm, GO:0030674, protein-macromolecule adaptor activity, GO:0090162, GO:0050714, GO:0050709, establishment of epithelial cell polarity, positive regulation of protein secretion, negative regulation of protein secretion, 115 176 118 206 293 195 202 153 142 ENSG00000151475 chr4 127730378 127774299 + SLC25A31 protein_coding The protein encoded by this gene is a member of the ADP/ATP carrier family of proteins that exchange cytosolic ADP for matrix ATP in the mitochondria. Cells over-expressing this gene have been shown to display an anti-apoptotic phenotype. This protein is also thought to play a role in spermatogenesis, where it is believed to associate with a part of the flagellar cytoskeleton and with glycolytic enzymes. Male mice with mutations in the mouse ortholog of this gene are sterile and spermatocytes display an early meiotic arrest phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 83447 GO:0031514, GO:0016021, GO:0016020, GO:0005743, GO:0005739, GO:0005634, motile cilium, integral component of membrane, membrane, mitochondrial inner membrane, mitochondrion, nucleus, GO:0005515, GO:0005471, protein binding, ATP:ADP antiporter activity, GO:1990544, GO:0140021, mitochondrial ATP transmembrane transport, mitochondrial ADP transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000151490 chr12 15322397 15597399 + PTPRO protein_coding This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]. 5800 GO:0098982, GO:0098978, GO:0070062, GO:0043197, GO:0043005, GO:0030426, GO:0030424, GO:0030027, GO:0016328, GO:0016324, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GABA-ergic synapse, glutamatergic synapse, extracellular exosome, dendritic spine, neuron projection, growth cone, axon, lamellipodium, lateral plasma membrane, apical plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0045296, GO:0045296, GO:0042803, GO:0017147, GO:0017147, GO:0016791, GO:0005515, GO:0005001, GO:0004725, GO:0004725, GO:0004725, GO:0004725, cadherin binding, cadherin binding, protein homodimerization activity, Wnt-protein binding, Wnt-protein binding, phosphatase activity, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1990264, GO:0090260, GO:0090090, GO:0090090, GO:0072112, GO:0072112, GO:0036060, GO:0036060, GO:0035335, GO:0032835, GO:0030032, GO:0010977, GO:0010812, GO:0007411, GO:0007411, GO:0006470, GO:0006470, GO:0003105, GO:0003093, GO:0003093, GO:0002548, GO:0000902, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, negative regulation of retinal ganglion cell axon guidance, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, glomerular visceral epithelial cell differentiation, glomerular visceral epithelial cell differentiation, slit diaphragm assembly, slit diaphragm assembly, peptidyl-tyrosine dephosphorylation, glomerulus development, lamellipodium assembly, negative regulation of neuron projection development, negative regulation of cell-substrate adhesion, axon guidance, axon guidance, protein dephosphorylation, protein dephosphorylation, negative regulation of glomerular filtration, regulation of glomerular filtration, regulation of glomerular filtration, monocyte chemotaxis, cell morphogenesis, 4 9 0 11 7 12 6 8 0 ENSG00000151491 chr12 15620158 15882329 - EPS8 protein_coding This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 2059 GO:0098978, GO:0070062, GO:0032587, GO:0032587, GO:0032426, GO:0032420, GO:0031982, GO:0030426, GO:0017146, GO:0014069, GO:0005938, GO:0005903, GO:0005886, glutamatergic synapse, extracellular exosome, ruffle membrane, ruffle membrane, stereocilium tip, stereocilium, vesicle, growth cone, NMDA selective glutamate receptor complex, postsynaptic density, cell cortex, brush border, plasma membrane, GO:0035591, GO:0031267, GO:0005515, GO:0005085, GO:0003779, GO:0003779, signaling adaptor activity, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, actin binding, actin binding, GO:1990830, GO:1900029, GO:0070358, GO:0051764, GO:0051017, GO:0051016, GO:0048149, GO:0036336, GO:0035023, GO:0031532, GO:0030832, GO:0016601, GO:0010458, GO:0008360, GO:0008344, GO:0007266, cellular response to leukemia inhibitory factor, positive regulation of ruffle assembly, actin polymerization-dependent cell motility, actin crosslink formation, actin filament bundle assembly, barbed-end actin filament capping, behavioral response to ethanol, dendritic cell migration, regulation of Rho protein signal transduction, actin cytoskeleton reorganization, regulation of actin filament length, Rac protein signal transduction, exit from mitosis, regulation of cell shape, adult locomotory behavior, Rho protein signal transduction, 6 1 6 21 28 33 20 9 24 ENSG00000151498 chr11 134253495 134265855 + ACAD8 protein_coding This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]. 27034 GO:0005759, mitochondrial matrix, GO:0050660, GO:0003995, flavin adenine dinucleotide binding, acyl-CoA dehydrogenase activity, GO:0055114, GO:0009083, GO:0006629, GO:0006574, oxidation-reduction process, branched-chain amino acid catabolic process, lipid metabolic process, valine catabolic process, 123 167 177 165 212 256 166 153 200 ENSG00000151500 chr11 134248279 134253370 - THYN1 protein_coding This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 29087 GO:0005634, GO:0005634, GO:0005634, nucleus, nucleus, nucleus, 48 47 74 27 59 56 62 44 54 ENSG00000151502 chr11 134224645 134247792 + VPS26B protein_coding 112936 GO:0045335, GO:0030906, GO:0030904, GO:0030904, GO:0005829, GO:0005770, GO:0005769, GO:0005768, phagocytic vesicle, retromer, cargo-selective complex, retromer complex, retromer complex, cytosol, late endosome, early endosome, endosome, GO:0005515, protein binding, GO:0071346, GO:0042147, GO:0042147, GO:0042147, GO:0016241, GO:0006886, cellular response to interferon-gamma, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, regulation of macroautophagy, intracellular protein transport, 304 304 330 273 421 407 303 338 329 ENSG00000151503 chr11 134150119 134225454 - NCAPD3 protein_coding Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]. 23310 GO:0016020, GO:0005721, GO:0005654, GO:0005654, GO:0000779, membrane, pericentric heterochromatin, nucleoplasm, nucleoplasm, condensed chromosome, centromeric region, GO:0042393, GO:0035064, GO:0005515, GO:0003682, histone binding, methylated histone binding, protein binding, chromatin binding, GO:0051304, GO:0051301, GO:0010032, GO:0007076, GO:0007076, GO:0007076, chromosome separation, cell division, meiotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, mitotic chromosome condensation, 98 94 135 127 116 115 97 79 132 ENSG00000151532 chr10 112446998 112818744 + VTI1A protein_coding The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 143187 GO:0048471, GO:0044306, GO:0043231, GO:0043025, GO:0032588, GO:0031902, GO:0031201, GO:0031201, GO:0031201, GO:0030136, GO:0016021, GO:0012507, GO:0008021, GO:0005829, GO:0005794, GO:0005794, GO:0005789, GO:0005776, GO:0005768, GO:0000139, perinuclear region of cytoplasm, neuron projection terminus, intracellular membrane-bounded organelle, neuronal cell body, trans-Golgi network membrane, late endosome membrane, SNARE complex, SNARE complex, SNARE complex, clathrin-coated vesicle, integral component of membrane, ER to Golgi transport vesicle membrane, synaptic vesicle, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, autophagosome, endosome, Golgi membrane, GO:0005515, GO:0005484, GO:0005484, GO:0000149, protein binding, SNAP receptor activity, SNAP receptor activity, SNARE binding, GO:0090161, GO:0050882, GO:0048280, GO:0048280, GO:0042147, GO:0042147, GO:0042147, GO:0006914, GO:0006896, GO:0006891, GO:0006888, GO:0006888, GO:0006623, Golgi ribbon formation, voluntary musculoskeletal movement, vesicle fusion with Golgi apparatus, vesicle fusion with Golgi apparatus, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, autophagy, Golgi to vacuole transport, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein targeting to vacuole, 478 466 572 307 399 376 313 396 326 ENSG00000151552 chr4 17460261 17512234 - QDPR protein_coding This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]. 5860 GO:0070062, GO:0043005, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, neuron projection, cytosol, cytoplasm, cytoplasm, GO:0070404, GO:0070402, GO:0042802, GO:0009055, GO:0004155, NADH binding, NADPH binding, identical protein binding, electron transfer activity, 6,7-dihydropteridine reductase activity, GO:0051066, GO:0035690, GO:0033762, GO:0022900, GO:0010288, GO:0010044, GO:0006729, GO:0006559, GO:0006559, GO:0006520, GO:0001889, dihydrobiopterin metabolic process, cellular response to drug, response to glucagon, electron transport chain, response to lead ion, response to aluminum ion, tetrahydrobiopterin biosynthetic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, cellular amino acid metabolic process, liver development, 2 8 15 22 16 54 15 1 29 ENSG00000151553 chr10 114821744 114899832 + FAM160B1 protein_coding 57700 1121 959 880 604 791 705 743 666 669 ENSG00000151572 chr12 100717526 101128641 + ANO4 protein_coding 121601 GO:0016021, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0046983, GO:0017128, GO:0005254, GO:0005229, GO:0005229, protein dimerization activity, phospholipid scramblase activity, chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0061591, GO:0061590, GO:0061589, GO:0055085, GO:0034220, GO:0006821, chloride transmembrane transport, calcium activated galactosylceramide scrambling, calcium activated phosphatidylcholine scrambling, calcium activated phosphatidylserine scrambling, transmembrane transport, ion transmembrane transport, chloride transport, 0 0 0 0 0 0 0 0 0 ENSG00000151575 chr15 56244009 56445997 + TEX9 protein_coding 374618 GO:0005515, protein binding, 1 0 0 1 5 6 0 1 0 ENSG00000151576 chr3 114005833 114088422 + QTRT2 protein_coding This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 79691 GO:0032991, GO:0005741, GO:0005739, GO:0005737, protein-containing complex, mitochondrial outer membrane, mitochondrion, cytoplasm, GO:0046982, GO:0046872, GO:0042803, GO:0008479, protein heterodimerization activity, metal ion binding, protein homodimerization activity, queuine tRNA-ribosyltransferase activity, GO:0101030, GO:0101030, GO:0006400, tRNA-guanine transglycosylation, tRNA-guanine transglycosylation, tRNA modification, 131 121 197 158 150 167 159 93 128 ENSG00000151577 chr3 114128652 114199407 - DRD3 protein_coding This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]. 1814 GO:0098691, GO:0045177, GO:0042995, GO:0030139, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, dopaminergic synapse, apical part of cell, cell projection, endocytic vesicle, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0035240, GO:0031748, GO:0019904, GO:0008144, GO:0005515, GO:0004930, GO:0001591, GO:0001591, GO:0001591, dopamine binding, D1 dopamine receptor binding, protein domain specific binding, drug binding, protein binding, G protein-coupled receptor activity, dopamine neurotransmitter receptor activity, coupled via Gi/Go, dopamine neurotransmitter receptor activity, coupled via Gi/Go, dopamine neurotransmitter receptor activity, coupled via Gi/Go, GO:1901386, GO:0090325, GO:0071880, GO:0060161, GO:0060160, GO:0060158, GO:0060134, GO:0051967, GO:0051898, GO:0051584, GO:0051482, GO:0051481, GO:0050883, GO:0050709, GO:0050482, GO:0048715, GO:0048148, GO:0048148, GO:0046717, GO:0045944, GO:0045840, GO:0045776, GO:0045471, GO:0045187, GO:0043278, GO:0043266, GO:0043066, GO:0042493, GO:0042417, GO:0042220, GO:0040014, GO:0035815, GO:0035483, GO:0035176, GO:0034776, GO:0032922, GO:0032467, GO:0032416, GO:0019216, GO:0014059, GO:0014059, GO:0008542, GO:0008284, GO:0007626, GO:0007612, GO:0007611, GO:0007195, GO:0007195, GO:0007194, GO:0007191, GO:0007186, GO:0007186, GO:0006914, GO:0006874, GO:0002031, GO:0002016, GO:0001975, GO:0000122, negative regulation of voltage-gated calcium channel activity, regulation of locomotion involved in locomotory behavior, adenylate cyclase-activating adrenergic receptor signaling pathway, positive regulation of dopamine receptor signaling pathway, negative regulation of dopamine receptor signaling pathway, phospholipase C-activating dopamine receptor signaling pathway, prepulse inhibition, negative regulation of synaptic transmission, glutamatergic, negative regulation of protein kinase B signaling, regulation of dopamine uptake involved in synaptic transmission, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, negative regulation of cytosolic calcium ion concentration, musculoskeletal movement, spinal reflex action, negative regulation of protein secretion, arachidonic acid secretion, negative regulation of oligodendrocyte differentiation, behavioral response to cocaine, behavioral response to cocaine, acid secretion, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic nuclear division, negative regulation of blood pressure, response to ethanol, regulation of circadian sleep/wake cycle, sleep, response to morphine, regulation of potassium ion transport, negative regulation of apoptotic process, response to drug, dopamine metabolic process, response to cocaine, regulation of multicellular organism growth, positive regulation of renal sodium excretion, gastric emptying, social behavior, response to histamine, circadian regulation of gene expression, positive regulation of cytokinesis, negative regulation of sodium:proton antiporter activity, regulation of lipid metabolic process, regulation of dopamine secretion, regulation of dopamine secretion, visual learning, positive regulation of cell population proliferation, locomotory behavior, learning, learning or memory, adenylate cyclase-inhibiting dopamine receptor signaling pathway, adenylate cyclase-inhibiting dopamine receptor signaling pathway, negative regulation of adenylate cyclase activity, adenylate cyclase-activating dopamine receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, autophagy, cellular calcium ion homeostasis, G protein-coupled receptor internalization, regulation of blood volume by renin-angiotensin, response to amphetamine, negative regulation of transcription by RNA polymerase II, 0 0 1 1 0 0 0 0 2 ENSG00000151611 chr4 145599042 145660035 + MMAA protein_coding The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]. 166785 GO:0005759, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrion, cytoplasm, GO:0042803, GO:0042802, GO:0042802, GO:0005525, GO:0005515, GO:0003924, GO:0003924, protein homodimerization activity, identical protein binding, identical protein binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0019626, GO:0009235, short-chain fatty acid catabolic process, cobalamin metabolic process, 10 5 14 10 4 30 19 3 20 ENSG00000151612 chr4 145757627 145938635 - ZNF827 protein_coding 152485 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0045944, GO:0010468, positive regulation of transcription by RNA polymerase II, regulation of gene expression, 14 11 34 59 7 36 28 10 31 ENSG00000151615 chr4 146638893 146642474 + POU4F2 protein_coding The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]. 5458 GO:0016607, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000791, GO:0000785, GO:0000785, nuclear speck, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, nucleus, euchromatin, chromatin, chromatin, GO:1990841, GO:0005515, GO:0002039, GO:0001228, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, promoter-specific chromatin binding, protein binding, p53 binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000679, GO:1990791, GO:1904178, GO:1902870, GO:1901796, GO:0090259, GO:0072332, GO:0071453, GO:0071392, GO:0071345, GO:0060041, GO:0051090, GO:0050885, GO:0048675, GO:0046326, GO:0045944, GO:0045944, GO:0045773, GO:0045672, GO:0045597, GO:0045596, GO:0043433, GO:0043068, GO:0032869, GO:0031290, GO:0030520, GO:0030182, GO:0010666, GO:0007605, GO:0007507, GO:0007411, GO:0007283, GO:0006357, GO:0000165, GO:0000122, positive regulation of transcription regulatory region DNA binding, dorsal root ganglion development, negative regulation of adipose tissue development, negative regulation of amacrine cell differentiation, regulation of signal transduction by p53 class mediator, regulation of retinal ganglion cell axon guidance, intrinsic apoptotic signaling pathway by p53 class mediator, cellular response to oxygen levels, cellular response to estradiol stimulus, cellular response to cytokine stimulus, retina development in camera-type eye, regulation of DNA-binding transcription factor activity, neuromuscular process controlling balance, axon extension, positive regulation of glucose import, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of axon extension, positive regulation of osteoclast differentiation, positive regulation of cell differentiation, negative regulation of cell differentiation, negative regulation of DNA-binding transcription factor activity, positive regulation of programmed cell death, cellular response to insulin stimulus, retinal ganglion cell axon guidance, intracellular estrogen receptor signaling pathway, neuron differentiation, positive regulation of cardiac muscle cell apoptotic process, sensory perception of sound, heart development, axon guidance, spermatogenesis, regulation of transcription by RNA polymerase II, MAPK cascade, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000151617 chr4 147480917 147544954 + EDNRA protein_coding This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 1909 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0004962, GO:0004435, protein binding, endothelin receptor activity, phosphatidylinositol phospholipase C activity, GO:0086100, GO:0060322, GO:0048484, GO:0042310, GO:0014824, GO:0014032, GO:0010827, GO:0008283, GO:0008217, GO:0007585, GO:0007507, GO:0007204, GO:0007202, GO:0007193, GO:0007190, GO:0007186, GO:0007186, GO:0007165, GO:0006939, GO:0001701, GO:0001666, GO:0001569, endothelin receptor signaling pathway, head development, enteric nervous system development, vasoconstriction, artery smooth muscle contraction, neural crest cell development, regulation of glucose transmembrane transport, cell population proliferation, regulation of blood pressure, respiratory gaseous exchange by respiratory system, heart development, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, smooth muscle contraction, in utero embryonic development, response to hypoxia, branching involved in blood vessel morphogenesis, 0 1 0 0 0 0 0 1 0 ENSG00000151623 chr4 148078762 148444698 - NR3C2 protein_coding This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 4306 GO:0043235, GO:0005829, GO:0005789, GO:0005654, GO:0005654, GO:0000785, GO:0000785, receptor complex, cytosol, endoplasmic reticulum membrane, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0008270, GO:0005515, GO:0005496, GO:0004879, GO:0003707, GO:0003700, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, zinc ion binding, protein binding, steroid binding, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901224, GO:0030518, GO:0007165, GO:0006367, GO:0006357, positive regulation of NIK/NF-kappaB signaling, intracellular steroid hormone receptor signaling pathway, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 14 8 30 44 22 55 59 19 44 ENSG00000151631 chr10 4871901 4891975 - AKR1C6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000151632 chr10 4987400 5018031 - AKR1C2 protein_coding This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 1646 GO:0005829, cytosol, GO:0047115, GO:0047086, GO:0047086, GO:0047023, GO:0032052, GO:0032052, GO:0031406, GO:0018636, GO:0016655, GO:0016229, GO:0004032, GO:0004032, trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity, ketosteroid monooxygenase activity, ketosteroid monooxygenase activity, androsterone dehydrogenase activity, bile acid binding, bile acid binding, carboxylic acid binding, phenanthrene 9,10-monooxygenase activity, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, steroid dehydrogenase activity, alditol:NADP+ 1-oxidoreductase activity, alditol:NADP+ 1-oxidoreductase activity, GO:0071799, GO:0071395, GO:0055114, GO:0051897, GO:0044598, GO:0044598, GO:0044597, GO:0044597, GO:0042448, GO:0042448, GO:0030855, GO:0008284, GO:0008202, GO:0008202, GO:0007586, GO:0007186, GO:0006693, GO:0006693, cellular response to prostaglandin D stimulus, cellular response to jasmonic acid stimulus, oxidation-reduction process, positive regulation of protein kinase B signaling, doxorubicin metabolic process, doxorubicin metabolic process, daunorubicin metabolic process, daunorubicin metabolic process, progesterone metabolic process, progesterone metabolic process, epithelial cell differentiation, positive regulation of cell population proliferation, steroid metabolic process, steroid metabolic process, digestion, G protein-coupled receptor signaling pathway, prostaglandin metabolic process, prostaglandin metabolic process, 0 1 0 1 0 0 0 0 0 ENSG00000151640 chr10 132186900 132205776 + DPYSL4 protein_coding 10570 GO:0005829, cytosol, GO:0031005, GO:0005515, GO:0004157, filamin binding, protein binding, dihydropyrimidinase activity, GO:0097485, GO:0070997, GO:0007399, GO:0006208, neuron projection guidance, neuron death, nervous system development, pyrimidine nucleobase catabolic process, 1 0 5 7 0 11 8 4 4 ENSG00000151650 chr10 133237404 133241929 + VENTX protein_coding This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008]. 27287 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0007275, GO:0006357, positive regulation of transcription by RNA polymerase II, multicellular organism development, regulation of transcription by RNA polymerase II, 22 12 19 11 11 16 29 16 13 ENSG00000151651 chr10 133262403 133276868 - ADAM8 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]. 101 GO:0101003, GO:0071133, GO:0071065, GO:0071065, GO:0070821, GO:0070820, GO:0042581, GO:0035579, GO:0032127, GO:0032010, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0002102, ficolin-1-rich granule membrane, alpha9-beta1 integrin-ADAM8 complex, alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex, alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex, tertiary granule membrane, tertiary granule, specific granule, specific granule membrane, dense core granule membrane, phagolysosome, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, podosome, GO:0050839, GO:0050839, GO:0043621, GO:0008270, GO:0008237, GO:0008237, GO:0005515, GO:0005509, GO:0004252, GO:0004222, cell adhesion molecule binding, cell adhesion molecule binding, protein self-association, zinc ion binding, metallopeptidase activity, metallopeptidase activity, protein binding, calcium ion binding, serine-type endopeptidase activity, metalloendopeptidase activity, GO:2000418, GO:2000415, GO:2000391, GO:2000309, GO:0098609, GO:0071456, GO:0070245, GO:0051897, GO:0051092, GO:0051044, GO:0051044, GO:0050714, GO:0048247, GO:0045785, GO:0045780, GO:0045089, GO:0043524, GO:0043406, GO:0043312, GO:0033089, GO:0022617, GO:0022407, GO:0022407, GO:0010954, GO:0006954, GO:0006954, GO:0006508, GO:0002693, GO:0002675, GO:0002523, GO:0001525, GO:0000902, positive regulation of eosinophil migration, positive regulation of fibronectin-dependent thymocyte migration, positive regulation of neutrophil extravasation, positive regulation of tumor necrosis factor (ligand) superfamily member 11 production, cell-cell adhesion, cellular response to hypoxia, positive regulation of thymocyte apoptotic process, positive regulation of protein kinase B signaling, positive regulation of NF-kappaB transcription factor activity, positive regulation of membrane protein ectodomain proteolysis, positive regulation of membrane protein ectodomain proteolysis, positive regulation of protein secretion, lymphocyte chemotaxis, positive regulation of cell adhesion, positive regulation of bone resorption, positive regulation of innate immune response, negative regulation of neuron apoptotic process, positive regulation of MAP kinase activity, neutrophil degranulation, positive regulation of T cell differentiation in thymus, extracellular matrix disassembly, regulation of cell-cell adhesion, regulation of cell-cell adhesion, positive regulation of protein processing, inflammatory response, inflammatory response, proteolysis, positive regulation of cellular extravasation, positive regulation of acute inflammatory response, leukocyte migration involved in inflammatory response, angiogenesis, cell morphogenesis, 12114 13615 18355 6585 9411 8355 7146 7796 8135 ENSG00000151655 chr10 7703269 7749520 + ITIH2 protein_coding The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]. 3698 GO:0072562, GO:0070062, GO:0062023, GO:0062023, GO:0005788, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, endoplasmic reticulum lumen, extracellular region, GO:0004867, GO:0004866, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0044267, GO:0043687, GO:0030212, GO:0010951, cellular protein metabolic process, post-translational protein modification, hyaluronan metabolic process, negative regulation of endopeptidase activity, 4 2 4 12 2 7 2 8 0 ENSG00000151657 chr10 7750962 7787981 - KIN protein_coding The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 22944 GO:0043231, GO:0032991, GO:0016363, GO:0005737, GO:0005654, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, protein-containing complex, nuclear matrix, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003723, GO:0003690, GO:0003690, GO:0003677, metal ion binding, protein binding, RNA binding, double-stranded DNA binding, double-stranded DNA binding, DNA binding, GO:0016032, GO:0006974, GO:0006974, GO:0006397, GO:0006310, GO:0006281, GO:0006260, GO:0006260, viral process, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, mRNA processing, DNA recombination, DNA repair, DNA replication, DNA replication, 135 113 110 100 167 95 103 130 101 ENSG00000151665 chr2 46580937 46617119 - PIGF protein_coding This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 5281 GO:0016021, GO:0005789, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0051377, GO:0005515, GO:0004307, mannose-ethanolamine phosphotransferase activity, protein binding, ethanolaminephosphotransferase activity, GO:0016254, GO:0006506, GO:0006506, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 844 755 1103 376 623 546 480 497 476 ENSG00000151687 chr2 189674290 189761193 + ANKAR protein_coding 150709 GO:0016021, integral component of membrane, 19 29 25 21 33 49 24 19 41 ENSG00000151689 chr2 190343470 190371665 + INPP1 protein_coding This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]. 3628 GO:0005829, cytosol, GO:0046872, GO:0005515, GO:0004441, metal ion binding, protein binding, inositol-1,4-bisphosphate 1-phosphatase activity, GO:0046855, GO:0046854, GO:0043647, GO:0007165, GO:0006796, inositol phosphate dephosphorylation, phosphatidylinositol phosphorylation, inositol phosphate metabolic process, signal transduction, phosphate-containing compound metabolic process, 181 176 278 102 106 78 83 69 60 ENSG00000151690 chr2 190408355 190509205 + MFSD6 protein_coding 54842 GO:0016021, GO:0016020, GO:0016020, GO:0005886, integral component of membrane, membrane, membrane, plasma membrane, GO:0005515, protein binding, GO:0042590, antigen processing and presentation of exogenous peptide antigen via MHC class I, 52 31 66 123 67 174 104 64 141 ENSG00000151692 chr2 6917392 7068286 + RNF144A protein_coding This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]. 9781 GO:0043231, GO:0030659, GO:0016021, GO:0010008, GO:0005886, GO:0005794, GO:0005794, GO:0005737, GO:0000151, intracellular membrane-bounded organelle, cytoplasmic vesicle membrane, integral component of membrane, endosome membrane, plasma membrane, Golgi apparatus, Golgi apparatus, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0046872, GO:0031624, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ubiquitin conjugating enzyme binding, protein binding, GO:0032436, GO:0016567, GO:0006511, GO:0000209, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 103 125 187 116 93 184 140 70 131 ENSG00000151693 chr2 9206765 9405683 + ASAP2 protein_coding This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 8853 GO:0032580, GO:0005886, Golgi cisterna membrane, plasma membrane, GO:0046872, GO:0005515, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 5 2 3 7 6 3 0 10 0 ENSG00000151694 chr2 9488486 9556732 - ADAM17 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020]. 6868 GO:0045121, GO:0032587, GO:0016324, GO:0016020, GO:0015629, GO:0009986, GO:0005925, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005737, membrane raft, ruffle membrane, apical plasma membrane, membrane, actin cytoskeleton, cell surface, focal adhesion, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0046872, GO:0030165, GO:0017124, GO:0008237, GO:0008237, GO:0008233, GO:0005515, GO:0005178, GO:0005138, GO:0005112, GO:0004222, GO:0004222, GO:0004222, GO:0004222, GO:0004175, metal ion binding, PDZ domain binding, SH3 domain binding, metallopeptidase activity, metallopeptidase activity, peptidase activity, protein binding, integrin binding, interleukin-6 receptor binding, Notch binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:1905564, GO:1903265, GO:1900087, GO:0120163, GO:0071403, GO:0051272, GO:0050830, GO:0048870, GO:0048536, GO:0045741, GO:0045741, GO:0045737, GO:0043536, GO:0042493, GO:0035624, GO:0035313, GO:0033627, GO:0033209, GO:0033077, GO:0033025, GO:0032722, GO:0032496, GO:0031293, GO:0030512, GO:0030511, GO:0030335, GO:0030335, GO:0030307, GO:0030183, GO:0010820, GO:0008284, GO:0007220, GO:0007219, GO:0007173, GO:0007155, GO:0006509, GO:0006509, GO:0006509, GO:0006508, GO:0002690, GO:0002467, GO:0002446, GO:0001934, GO:0001666, positive regulation of vascular endothelial cell proliferation, positive regulation of tumor necrosis factor-mediated signaling pathway, positive regulation of G1/S transition of mitotic cell cycle, negative regulation of cold-induced thermogenesis, cellular response to high density lipoprotein particle stimulus, positive regulation of cellular component movement, defense response to Gram-positive bacterium, cell motility, spleen development, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of blood vessel endothelial cell migration, response to drug, receptor transactivation, wound healing, spreading of epidermal cells, cell adhesion mediated by integrin, tumor necrosis factor-mediated signaling pathway, T cell differentiation in thymus, regulation of mast cell apoptotic process, positive regulation of chemokine production, response to lipopolysaccharide, membrane protein intracellular domain proteolysis, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, positive regulation of cell migration, positive regulation of cell growth, B cell differentiation, positive regulation of T cell chemotaxis, positive regulation of cell population proliferation, Notch receptor processing, Notch signaling pathway, epidermal growth factor receptor signaling pathway, cell adhesion, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, proteolysis, positive regulation of leukocyte chemotaxis, germinal center formation, neutrophil mediated immunity, positive regulation of protein phosphorylation, response to hypoxia, 1108 1026 1694 739 957 1000 963 635 798 ENSG00000151702 chr11 128686535 128813267 + FLI1 protein_coding This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 2313 GO:0016604, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear body, cytosol, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045893, GO:0035855, GO:0030154, GO:0009887, GO:0008015, GO:0007599, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, megakaryocyte development, cell differentiation, animal organ morphogenesis, blood circulation, hemostasis, regulation of transcription by RNA polymerase II, 1844 1746 1980 1382 2089 1888 1501 1662 1583 ENSG00000151704 chr11 128836315 128867373 - KCNJ1 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3758 GO:0008076, GO:0005886, GO:0005886, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0015272, GO:0005546, GO:0005524, GO:0005242, ATP-activated inward rectifier potassium channel activity, phosphatidylinositol-4,5-bisphosphate binding, ATP binding, inward rectifier potassium channel activity, GO:1990573, GO:0034765, GO:0007588, GO:0006813, potassium ion import across plasma membrane, regulation of ion transmembrane transport, excretion, potassium ion transport, 5 12 10 26 24 31 23 23 28 ENSG00000151715 chr11 129815819 129860003 + TMEM45B protein_coding 120224 GO:0016021, integral component of membrane, GO:0005515, protein binding, 66 103 65 32 81 28 44 71 22 ENSG00000151718 chr4 183099293 183320777 + WWC2 protein_coding This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]. 80014 GO:0005829, cytosol, GO:0060090, GO:0019900, molecular adaptor activity, kinase binding, GO:0046621, GO:0035331, GO:0000122, negative regulation of organ growth, negative regulation of hippo signaling, negative regulation of transcription by RNA polymerase II, 8 4 4 20 14 10 13 8 12 ENSG00000151725 chr4 184694618 184734133 - CENPU protein_coding The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]. 79682 GO:0034451, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000777, centriolar satellite, cytosol, nucleoplasm, nucleoplasm, nucleus, condensed chromosome kinetochore, GO:0005515, protein binding, GO:0043009, GO:0034080, GO:0016032, chordate embryonic development, CENP-A containing nucleosome assembly, viral process, 8 13 10 22 27 15 22 14 22 ENSG00000151726 chr4 184755595 184826818 - ACSL1 protein_coding The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 2180 GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005789, GO:0005783, GO:0005783, GO:0005778, GO:0005741, GO:0005739, GO:0005739, integral component of membrane, membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, peroxisomal membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0102391, GO:0090434, GO:0050197, GO:0047676, GO:0047676, GO:0005524, GO:0004467, GO:0004467, GO:0003996, decanoate-CoA ligase activity, oleoyl-CoA ligase activity, phytanate-CoA ligase activity, arachidonate-CoA ligase activity, arachidonate-CoA ligase activity, ATP binding, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, acyl-CoA ligase activity, GO:0120162, GO:0071902, GO:0044539, GO:0044539, GO:0043651, GO:0042493, GO:0042178, GO:0036109, GO:0035338, GO:0035338, GO:0034201, GO:0033211, GO:0019432, GO:0019216, GO:0015908, GO:0014070, GO:0010747, GO:0008610, GO:0008610, GO:0008610, GO:0007584, GO:0001676, GO:0000038, positive regulation of cold-induced thermogenesis, positive regulation of protein serine/threonine kinase activity, long-chain fatty acid import into cell, long-chain fatty acid import into cell, linoleic acid metabolic process, response to drug, xenobiotic catabolic process, alpha-linolenic acid metabolic process, long-chain fatty-acyl-CoA biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, response to oleic acid, adiponectin-activated signaling pathway, triglyceride biosynthetic process, regulation of lipid metabolic process, fatty acid transport, response to organic cyclic compound, positive regulation of long-chain fatty acid import across plasma membrane, lipid biosynthetic process, lipid biosynthetic process, lipid biosynthetic process, response to nutrient, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 26141 20473 48730 17851 19734 28419 21070 14257 22401 ENSG00000151729 chr4 185143241 185150382 + SLC25A4 protein_coding This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]. 291 GO:0032592, GO:0016020, GO:0005887, GO:0005743, GO:0005739, GO:0005739, integral component of mitochondrial membrane, membrane, integral component of plasma membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0015207, GO:0005515, GO:0005471, adenine transmembrane transporter activity, protein binding, ATP:ADP antiporter activity, GO:1990544, GO:0140021, GO:0060546, GO:0050796, GO:0016032, GO:0015866, GO:0015853, GO:0008637, GO:0006091, GO:0000002, mitochondrial ATP transmembrane transport, mitochondrial ADP transmembrane transport, negative regulation of necroptotic process, regulation of insulin secretion, viral process, ADP transport, adenine transport, apoptotic mitochondrial changes, generation of precursor metabolites and energy, mitochondrial genome maintenance, 8 0 11 34 4 17 17 4 10 ENSG00000151743 chr12 31671137 31729174 - AMN1 protein_coding 196394 GO:0019005, SCF ubiquitin ligase complex, GO:0031146, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, 264 239 361 184 194 244 181 204 169 ENSG00000151746 chr12 32106835 32383633 + BICD1 protein_coding This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017]. 636 GO:0099503, GO:0048471, GO:0048471, GO:0045298, GO:0031410, GO:0016020, GO:0005881, GO:0005856, GO:0005829, GO:0005829, GO:0005829, GO:0005813, GO:0005802, GO:0005794, GO:0005794, GO:0005794, secretory vesicle, perinuclear region of cytoplasm, perinuclear region of cytoplasm, tubulin complex, cytoplasmic vesicle, membrane, cytoplasmic microtubule, cytoskeleton, cytosol, cytosol, cytosol, centrosome, trans-Golgi network, Golgi apparatus, Golgi apparatus, Golgi apparatus, GO:0070840, GO:0070840, GO:0045505, GO:0045505, GO:0034452, GO:0034452, GO:0034452, GO:0031871, GO:0031267, GO:0019901, GO:0008093, GO:0008093, GO:0005515, GO:0005200, dynein complex binding, dynein complex binding, dynein intermediate chain binding, dynein intermediate chain binding, dynactin binding, dynactin binding, dynactin binding, proteinase activated receptor binding, small GTPase binding, protein kinase binding, cytoskeletal anchor activity, cytoskeletal anchor activity, protein binding, structural constituent of cytoskeleton, GO:1904781, GO:1900737, GO:1900276, GO:1900275, GO:0072393, GO:0072393, GO:0072385, GO:0070507, GO:0070507, GO:0048260, GO:0048260, GO:0034063, GO:0033365, GO:0033365, GO:0016032, GO:0009653, GO:0008298, GO:0006396, positive regulation of protein localization to centrosome, negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway, regulation of proteinase activated receptor activity, negative regulation of phospholipase C activity, microtubule anchoring at microtubule organizing center, microtubule anchoring at microtubule organizing center, minus-end-directed organelle transport along microtubule, regulation of microtubule cytoskeleton organization, regulation of microtubule cytoskeleton organization, positive regulation of receptor-mediated endocytosis, positive regulation of receptor-mediated endocytosis, stress granule assembly, protein localization to organelle, protein localization to organelle, viral process, anatomical structure morphogenesis, intracellular mRNA localization, RNA processing, 24 15 25 41 14 37 43 16 18 ENSG00000151748 chr14 50632058 50668331 - SAV1 protein_coding WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]. 60485 GO:0030425, GO:0005911, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, dendrite, cell-cell junction, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0070699, GO:0046332, GO:0042802, GO:0031697, GO:0030159, GO:0005515, type II activin receptor binding, SMAD binding, identical protein binding, beta-1 adrenergic receptor binding, signaling receptor complex adaptor activity, protein binding, GO:2000036, GO:0060575, GO:0060487, GO:0060412, GO:0060044, GO:0051091, GO:0050821, GO:0050680, GO:0045600, GO:0043113, GO:0043065, GO:0035329, GO:0035329, GO:0030216, GO:0007165, GO:0006915, GO:0001942, regulation of stem cell population maintenance, intestinal epithelial cell differentiation, lung epithelial cell differentiation, ventricular septum morphogenesis, negative regulation of cardiac muscle cell proliferation, positive regulation of DNA-binding transcription factor activity, protein stabilization, negative regulation of epithelial cell proliferation, positive regulation of fat cell differentiation, receptor clustering, positive regulation of apoptotic process, hippo signaling, hippo signaling, keratinocyte differentiation, signal transduction, apoptotic process, hair follicle development, 18 9 35 30 12 32 26 14 10 ENSG00000151773 chr13 43823909 43879727 - CCDC122 protein_coding This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017]. 160857 1 0 18 2 0 10 4 0 8 ENSG00000151778 chr13 44373665 44397714 + SERP2 protein_coding 387923 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0030968, GO:0015031, GO:0006486, endoplasmic reticulum unfolded protein response, protein transport, protein glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000151779 chr2 15166909 15561330 - NBAS protein_coding This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]. 51594 GO:0070939, GO:0016020, GO:0005829, GO:0005789, GO:0005783, Dsl1/NZR complex, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0000149, SNARE binding, GO:2000623, GO:0015031, GO:0006890, GO:0006890, GO:0000956, negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, protein transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, nuclear-transcribed mRNA catabolic process, 42 41 83 120 51 106 71 33 63 ENSG00000151789 chr3 21412222 22373321 - ZNF385D protein_coding 79750 GO:0005634, GO:0005634, nucleus, nucleus, GO:1990837, GO:0008270, sequence-specific double-stranded DNA binding, zinc ion binding, 0 0 1 0 0 0 0 0 0 ENSG00000151790 chr4 155854738 155920406 + TDO2 protein_coding This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012]. 6999 GO:0005829, cytosol, GO:0046872, GO:0042802, GO:0020037, GO:0020037, GO:0019825, GO:0016597, GO:0005515, GO:0004833, GO:0004833, metal ion binding, identical protein binding, heme binding, heme binding, oxygen binding, amino acid binding, protein binding, tryptophan 2,3-dioxygenase activity, tryptophan 2,3-dioxygenase activity, GO:1904842, GO:0055114, GO:0051289, GO:0019442, GO:0019441, GO:0019441, GO:0006569, response to nitroglycerin, oxidation-reduction process, protein homotetramerization, tryptophan catabolic process to acetyl-CoA, tryptophan catabolic process to kynurenine, tryptophan catabolic process to kynurenine, tryptophan catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000151806 chr4 44678427 44700926 + GUF1 protein_coding This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 60558 GO:0005759, GO:0005743, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, GO:0043022, GO:0005525, GO:0003924, ribosome binding, GTP binding, GTPase activity, GO:0045727, GO:0006412, positive regulation of translation, translation, 32 28 47 64 56 84 72 38 41 ENSG00000151812 chr14 57563922 57982194 - SLC35F4 protein_coding 341880 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000151834 chr4 46248427 46475230 - GABRA2 protein_coding GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 2555 GO:1902711, GO:1902711, GO:0098794, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0030285, GO:0005887, GO:0005886, GABA-A receptor complex, GABA-A receptor complex, postsynapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, dendrite membrane, integral component of synaptic vesicle membrane, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0030594, GO:0022851, GO:0022851, GO:0008503, GO:0005254, GO:0005237, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:1904862, GO:1902476, GO:1902476, GO:0060078, GO:0051932, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007214, GO:0007214, GO:0007165, GO:0006836, GO:0001505, inhibitory synapse assembly, chloride transmembrane transport, chloride transmembrane transport, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, gamma-aminobutyric acid signaling pathway, signal transduction, neurotransmitter transport, regulation of neurotransmitter levels, 0 0 0 0 0 0 0 0 0 ENSG00000151835 chr13 23328826 23433740 - SACS protein_coding This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that 'the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins' (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]. 26278 GO:0070852, GO:0030425, GO:0030424, GO:0005739, GO:0005737, GO:0005634, cell body fiber, dendrite, axon, mitochondrion, cytoplasm, nucleus, GO:0070628, GO:0051087, GO:0051087, GO:0030544, GO:0030544, proteasome binding, chaperone binding, chaperone binding, Hsp70 protein binding, Hsp70 protein binding, GO:0090084, GO:0006457, negative regulation of inclusion body assembly, protein folding, 74 48 111 222 49 247 231 53 167 ENSG00000151838 chr14 59504539 59576831 - CCDC175 protein_coding 729665 7 5 2 5 6 2 3 6 18 ENSG00000151846 chr13 25095868 25099254 + PABPC3 protein_coding Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM, Jul 2002]. 5042 GO:1990904, GO:0070062, GO:0010494, GO:0005829, GO:0005829, GO:0005737, GO:0005634, ribonucleoprotein complex, extracellular exosome, cytoplasmic stress granule, cytosol, cytosol, cytoplasm, nucleus, GO:0008266, GO:0008143, GO:0008143, GO:0005515, GO:0003730, GO:0003723, poly(U) RNA binding, poly(A) binding, poly(A) binding, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0016071, mRNA metabolic process, 3 6 5 1 8 3 3 2 7 ENSG00000151849 chr13 24882284 24922889 - CENPJ protein_coding This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]. 55835 GO:0036064, GO:0008275, GO:0005886, GO:0005874, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005654, GO:0005634, ciliary basal body, gamma-tubulin small complex, plasma membrane, microtubule, cytosol, centriole, centriole, centrosome, centrosome, cytoplasm, nucleoplasm, nucleus, GO:0043015, GO:0042802, GO:0019904, GO:0019901, GO:0015631, GO:0015631, GO:0005515, GO:0003713, gamma-tubulin binding, identical protein binding, protein domain specific binding, protein kinase binding, tubulin binding, tubulin binding, protein binding, transcription coactivator activity, GO:1905515, GO:1904951, GO:1903724, GO:1903508, GO:1902857, GO:0097711, GO:0061511, GO:0061511, GO:0060271, GO:0051301, GO:0046785, GO:0046599, GO:0046427, GO:0044458, GO:0030954, GO:0010389, GO:0007224, GO:0007099, GO:0007020, GO:0000086, non-motile cilium assembly, positive regulation of establishment of protein localization, positive regulation of centriole elongation, positive regulation of nucleic acid-templated transcription, positive regulation of non-motile cilium assembly, ciliary basal body-plasma membrane docking, centriole elongation, centriole elongation, cilium assembly, cell division, microtubule polymerization, regulation of centriole replication, positive regulation of receptor signaling pathway via JAK-STAT, motile cilium assembly, astral microtubule nucleation, regulation of G2/M transition of mitotic cell cycle, smoothened signaling pathway, centriole replication, microtubule nucleation, G2/M transition of mitotic cell cycle, 10 10 22 32 18 36 26 5 25 ENSG00000151876 chr5 41925254 41941743 + FBXO4 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 26272 GO:0019005, GO:0005829, GO:0005737, GO:0000151, SCF ubiquitin ligase complex, cytosol, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0042803, GO:0005515, GO:0004842, ubiquitin protein ligase activity, protein homodimerization activity, protein binding, ubiquitin-protein transferase activity, GO:2000001, GO:1902916, GO:1900181, GO:0071479, GO:0048147, GO:0043687, GO:0035726, GO:0032212, GO:0032212, GO:0031648, GO:0031647, GO:0031647, GO:0031398, GO:0031146, GO:0019725, GO:0016567, GO:0016567, GO:0010608, GO:0007568, GO:0000209, GO:0000209, regulation of DNA damage checkpoint, positive regulation of protein polyubiquitination, negative regulation of protein localization to nucleus, cellular response to ionizing radiation, negative regulation of fibroblast proliferation, post-translational protein modification, common myeloid progenitor cell proliferation, positive regulation of telomere maintenance via telomerase, positive regulation of telomere maintenance via telomerase, protein destabilization, regulation of protein stability, regulation of protein stability, positive regulation of protein ubiquitination, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, cellular homeostasis, protein ubiquitination, protein ubiquitination, posttranscriptional regulation of gene expression, aging, protein polyubiquitination, protein polyubiquitination, 5 5 12 15 7 15 16 5 1 ENSG00000151881 chr5 43444252 43483893 - TMEM267 protein_coding 64417 GO:0016021, integral component of membrane, GO:0005515, protein binding, 14 6 11 16 8 23 18 7 11 ENSG00000151882 chr5 43376645 43412391 - CCL28 protein_coding This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. 56477 GO:0070062, GO:0005576, GO:0005576, extracellular exosome, extracellular region, extracellular region, GO:0008009, GO:0008009, GO:0008009, GO:0005515, chemokine activity, chemokine activity, chemokine activity, protein binding, GO:1903237, GO:0060326, GO:0060326, GO:0007584, GO:0007204, GO:0007186, GO:0006955, GO:0006935, GO:0001954, GO:0001954, negative regulation of leukocyte tethering or rolling, cell chemotaxis, cell chemotaxis, response to nutrient, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, chemotaxis, positive regulation of cell-matrix adhesion, positive regulation of cell-matrix adhesion, 11 3 3 41 10 15 11 9 26 ENSG00000151883 chr5 50665899 50846522 + PARP8 protein_coding 79668 GO:0005622, intracellular anatomical structure, GO:1990404, GO:0003950, protein ADP-ribosylase activity, NAD+ ADP-ribosyltransferase activity, GO:0140289, GO:0070213, GO:0006471, protein mono-ADP-ribosylation, protein auto-ADP-ribosylation, protein ADP-ribosylation, 4984 4529 5891 4172 4908 5434 4522 3404 4237 ENSG00000151892 chr10 116056925 116273467 - GFRA1 protein_coding This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 2674 GO:0070062, GO:0043235, GO:0031225, GO:0019898, GO:0009897, GO:0005886, GO:0005794, GO:0005771, extracellular exosome, receptor complex, anchored component of membrane, extrinsic component of membrane, external side of plasma membrane, plasma membrane, Golgi apparatus, multivesicular body, GO:0038023, GO:0016167, GO:0005102, signaling receptor activity, glial cell-derived neurotrophic factor receptor activity, signaling receptor binding, GO:0035860, GO:0007411, GO:0007399, GO:0007166, GO:0000165, glial cell-derived neurotrophic factor receptor signaling pathway, axon guidance, nervous system development, cell surface receptor signaling pathway, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000151893 chr10 118674167 118755249 - CACUL1 protein_coding 143384 GO:0031625, GO:0019901, GO:0005515, ubiquitin protein ligase binding, protein kinase binding, protein binding, GO:0045860, GO:0008284, GO:0006511, GO:0000082, positive regulation of protein kinase activity, positive regulation of cell population proliferation, ubiquitin-dependent protein catabolic process, G1/S transition of mitotic cell cycle, 2950 3223 4041 1490 2508 2376 1795 1757 1774 ENSG00000151914 chr6 56457987 56954628 - DST protein_coding This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]. 667 GO:1904115, GO:0035371, GO:0031673, GO:0031410, GO:0031252, GO:0030056, GO:0030056, GO:0030018, GO:0016021, GO:0016020, GO:0015630, GO:0009925, GO:0005938, GO:0005925, GO:0005925, GO:0005882, GO:0005829, GO:0005829, GO:0005789, GO:0005737, GO:0005737, GO:0005654, GO:0005635, GO:0005634, GO:0005604, axon cytoplasm, microtubule plus-end, H zone, cytoplasmic vesicle, cell leading edge, hemidesmosome, hemidesmosome, Z disc, integral component of membrane, membrane, microtubule cytoskeleton, basal plasma membrane, cell cortex, focal adhesion, focal adhesion, intermediate filament, cytosol, cytosol, endoplasmic reticulum membrane, cytoplasm, cytoplasm, nucleoplasm, nuclear envelope, nucleus, basement membrane, GO:0051010, GO:0008022, GO:0008017, GO:0005515, GO:0005509, GO:0005198, GO:0005178, GO:0003779, microtubule plus-end binding, protein C-terminus binding, microtubule binding, protein binding, calcium ion binding, structural molecule activity, integrin binding, actin binding, GO:0048870, GO:0045104, GO:0045104, GO:0045104, GO:0042060, GO:0031581, GO:0031122, GO:0030011, GO:0009611, GO:0008090, GO:0007229, GO:0007155, GO:0007010, cell motility, intermediate filament cytoskeleton organization, intermediate filament cytoskeleton organization, intermediate filament cytoskeleton organization, wound healing, hemidesmosome assembly, cytoplasmic microtubule organization, maintenance of cell polarity, response to wounding, retrograde axonal transport, integrin-mediated signaling pathway, cell adhesion, cytoskeleton organization, 3 169 7 22 144 23 27 114 22 ENSG00000151917 chr6 56955126 57027342 + BEND6 protein_coding 221336 GO:0005634, nucleus, GO:0003714, GO:0003714, GO:0003682, transcription corepressor activity, transcription corepressor activity, chromatin binding, GO:1903507, GO:0045746, GO:0045666, negative regulation of nucleic acid-templated transcription, negative regulation of Notch signaling pathway, positive regulation of neuron differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000151923 chr10 119571802 119597029 - TIAL1 protein_coding The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]. 7073 GO:1990904, GO:0010494, GO:0005764, GO:0005737, GO:0005654, GO:0005634, ribonucleoprotein complex, cytoplasmic stress granule, lysosome, cytoplasm, nucleoplasm, nucleus, GO:0035925, GO:0003723, GO:0003677, mRNA 3'-UTR AU-rich region binding, RNA binding, DNA binding, GO:0017145, GO:0008543, GO:0008284, GO:0007281, GO:0006952, GO:0006915, GO:0006357, stem cell division, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, germ cell development, defense response, apoptotic process, regulation of transcription by RNA polymerase II, 442 513 622 590 781 754 616 584 550 ENSG00000151929 chr10 119651370 119677819 + BAG3 protein_coding BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]. 9531 GO:0101031, GO:0043005, GO:0030018, GO:0016235, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0001725, chaperone complex, neuron projection, Z disc, aggresome, membrane, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, stress fiber, GO:0051087, GO:0051087, GO:0045505, GO:0045296, GO:0044877, GO:0031072, GO:0005515, GO:0000774, GO:0000774, chaperone binding, chaperone binding, dynein intermediate chain binding, cadherin binding, protein-containing complex binding, heat shock protein binding, protein binding, adenyl-nucleotide exchange factor activity, adenyl-nucleotide exchange factor activity, GO:1905337, GO:1903215, GO:1900034, GO:0098840, GO:0097201, GO:0097192, GO:0072321, GO:0071260, GO:0070842, GO:0061684, GO:0050821, GO:0050821, GO:0050790, GO:0046827, GO:0046716, GO:0046716, GO:0043066, GO:0042307, GO:0034620, GO:0034605, GO:0021510, GO:0010664, GO:0010664, GO:0008625, GO:0007420, GO:0006457, GO:0000045, positive regulation of aggrephagy, negative regulation of protein targeting to mitochondrion, regulation of cellular response to heat, protein transport along microtubule, negative regulation of transcription from RNA polymerase II promoter in response to stress, extrinsic apoptotic signaling pathway in absence of ligand, chaperone-mediated protein transport, cellular response to mechanical stimulus, aggresome assembly, chaperone-mediated autophagy, protein stabilization, protein stabilization, regulation of catalytic activity, positive regulation of protein export from nucleus, muscle cell cellular homeostasis, muscle cell cellular homeostasis, negative regulation of apoptotic process, positive regulation of protein import into nucleus, cellular response to unfolded protein, cellular response to heat, spinal cord development, negative regulation of striated muscle cell apoptotic process, negative regulation of striated muscle cell apoptotic process, extrinsic apoptotic signaling pathway via death domain receptors, brain development, protein folding, autophagosome assembly, 29 33 94 151 99 97 68 35 45 ENSG00000151948 chr12 128853427 128984968 + GLT1D1 protein_coding 144423 GO:0005829, GO:0005576, cytosol, extracellular region, GO:0016757, transferase activity, transferring glycosyl groups, 3469 3188 3225 3111 3682 2541 3150 2717 2252 ENSG00000151952 chr12 129071725 129903666 - TMEM132D protein_coding 121256 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0010923, negative regulation of phosphatase activity, 16 36 23 23 61 14 20 27 5 ENSG00000151962 chr4 154781213 154828813 + RBM46 protein_coding 166863 GO:0005634, nucleus, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0048255, GO:0001829, mRNA stabilization, trophectodermal cell differentiation, 0 2 0 0 0 0 0 0 0 ENSG00000151963 chr10 37883594 37884109 + ZNF37CP unprocessed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000151967 chr3 159839861 159897360 + SCHIP1 protein_coding 29970 GO:0030054, GO:0005886, GO:0005737, cell junction, plasma membrane, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0035332, positive regulation of hippo signaling, 0 0 1 3 0 0 0 0 0 ENSG00000152034 chr6 99919910 99994247 - MCHR2 protein_coding 84539 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0008528, G protein-coupled peptide receptor activity, GO:0007218, GO:0007186, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000152049 chr2 223051814 223198399 + KCNE4 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]. 23704 GO:0016324, GO:0008076, apical plasma membrane, voltage-gated potassium channel complex, GO:1902282, GO:0044325, GO:0044325, GO:0015459, GO:0005515, GO:0005251, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, ion channel binding, ion channel binding, potassium channel regulator activity, protein binding, delayed rectifier potassium channel activity, GO:1902260, GO:0098915, GO:0097623, GO:0086091, GO:0086011, GO:0086005, GO:0060307, negative regulation of delayed rectifier potassium channel activity, membrane repolarization during ventricular cardiac muscle cell action potential, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, membrane repolarization during action potential, ventricular cardiac muscle cell action potential, regulation of ventricular cardiac muscle cell membrane repolarization, 0 0 0 0 0 0 0 0 0 ENSG00000152056 chr2 223751686 223838027 - AP1S3 protein_coding 130340 GO:0043231, GO:0043231, GO:0032588, GO:0030659, GO:0030117, GO:0005905, GO:0005829, GO:0005765, GO:0000139, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, trans-Golgi network membrane, cytoplasmic vesicle membrane, membrane coat, clathrin-coated pit, cytosol, lysosomal membrane, Golgi membrane, GO:0005515, protein binding, GO:0050690, GO:0019886, GO:0016192, GO:0006605, regulation of defense response to virus by virus, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, protein targeting, 8 4 22 15 10 27 13 6 6 ENSG00000152061 chr1 174159410 174995308 + RABGAP1L protein_coding 9910 GO:0005794, GO:0005769, GO:0005634, Golgi apparatus, early endosome, nucleus, GO:0031267, GO:0031267, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0032880, GO:0006897, GO:0006886, activation of GTPase activity, regulation of protein localization, endocytosis, intracellular protein transport, 1372 1567 1484 721 1647 1225 1010 1439 1101 ENSG00000152076 chr2 130139287 130145134 - CCDC74B protein_coding 91409 0 0 0 0 0 2 0 0 0 ENSG00000152078 chr1 95117338 95197607 + TMEM56 protein_coding 148534 GO:0016021, GO:0005783, GO:0005575, integral component of membrane, endoplasmic reticulum, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0055088, GO:0008150, lipid homeostasis, biological_process, 0 1 3 0 0 0 1 0 2 ENSG00000152082 chr2 130181737 130190729 + MZT2B protein_coding 80097 GO:0008274, GO:0008274, GO:0005829, GO:0005829, GO:0005819, GO:0005819, GO:0005813, GO:0005813, GO:0005654, gamma-tubulin ring complex, gamma-tubulin ring complex, cytosol, cytosol, spindle, spindle, centrosome, centrosome, nucleoplasm, GO:0005515, protein binding, 86 41 92 125 69 144 132 77 109 ENSG00000152086 chr2 130191743 130198461 - TUBA3E protein_coding Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. [provided by RefSeq, Jul 2016]. 112714 GO:0015630, GO:0005874, GO:0005737, GO:0005634, microtubule cytoskeleton, microtubule, cytoplasm, nucleus, GO:0005525, GO:0005515, GO:0005200, GO:0003924, GO:0003674, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, molecular_function, GO:0008150, GO:0000278, GO:0000226, biological_process, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000152092 chr1 176857302 177164973 - ASTN1 protein_coding Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]. 460 GO:0043204, GO:0030136, GO:0016021, GO:0009897, GO:0005768, GO:0005575, perikaryon, clathrin-coated vesicle, integral component of membrane, external side of plasma membrane, endosome, cellular_component, GO:0007626, GO:0007158, GO:0001764, locomotory behavior, neuron cell-cell adhesion, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000152093 chr2 130521197 130528604 + CFC1B protein_coding 653275 GO:0009986, GO:0005576, cell surface, extracellular region, GO:0070697, GO:0038100, GO:0005102, activin receptor binding, nodal binding, signaling receptor binding, GO:0048856, GO:0038092, GO:0009952, GO:0007507, GO:0007369, GO:0007368, GO:0001568, anatomical structure development, nodal signaling pathway, anterior/posterior pattern specification, heart development, gastrulation, determination of left/right symmetry, blood vessel development, 0 0 0 0 0 0 0 0 0 ENSG00000152102 chr2 131047876 131093460 - FAM168B protein_coding 130074 GO:0070062, GO:0048471, GO:0030424, GO:0016021, GO:0005886, extracellular exosome, perinuclear region of cytoplasm, axon, integral component of membrane, plasma membrane, 1281 1184 1636 680 841 865 782 680 772 ENSG00000152104 chr1 214348696 214552449 - PTPN14 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]. 5784 GO:0005856, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, cytoskeleton, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0030971, GO:0005515, GO:0004725, GO:0004725, GO:0003712, receptor tyrosine kinase binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, transcription coregulator activity, GO:1903506, GO:0071345, GO:0046825, GO:0035335, GO:0008285, GO:0006470, GO:0001946, GO:0001946, regulation of nucleic acid-templated transcription, cellular response to cytokine stimulus, regulation of protein export from nucleus, peptidyl-tyrosine dephosphorylation, negative regulation of cell population proliferation, protein dephosphorylation, lymphangiogenesis, lymphangiogenesis, 0 0 0 0 2 4 3 0 4 ENSG00000152117 chr2 131492813 131521573 + AC073869.1 transcribed_processed_pseudogene 150776 83 109 149 143 82 131 124 64 109 ENSG00000152127 chr2 134119983 134454621 + MGAT5 protein_coding The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]. 4249 GO:0070062, GO:0016021, GO:0016020, GO:0005794, GO:0000139, GO:0000139, extracellular exosome, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, Golgi membrane, GO:0030145, GO:0030144, GO:0030144, GO:0030144, GO:0030144, GO:0004864, manganese ion binding, alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity, alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity, alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity, alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity, protein phosphatase inhibitor activity, GO:1904894, GO:1903614, GO:0030335, GO:0018279, GO:0006487, GO:0006487, positive regulation of receptor signaling pathway via STAT, negative regulation of protein tyrosine phosphatase activity, positive regulation of cell migration, protein N-linked glycosylation via asparagine, protein N-linked glycosylation, protein N-linked glycosylation, 664 821 806 388 486 371 396 412 345 ENSG00000152128 chr2 134455759 134719000 - TMEM163 protein_coding 81615 GO:0031901, GO:0030285, GO:0030285, GO:0016020, early endosome membrane, integral component of synaptic vesicle membrane, integral component of synaptic vesicle membrane, membrane, GO:0008270, GO:0008270, zinc ion binding, zinc ion binding, 0 0 1 2 3 0 2 2 1 ENSG00000152133 chr2 37084451 37099244 + GPATCH11 protein_coding 253635 GO:0000777, GO:0000776, GO:0000776, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0005515, GO:0003676, protein binding, nucleic acid binding, 47 30 59 51 22 78 36 24 56 ENSG00000152137 chr12 119178642 119221131 + HSPB8 protein_coding The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]. 26353 GO:0101031, GO:0101031, GO:0016604, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, chaperone complex, chaperone complex, nuclear body, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042803, GO:0042802, GO:0005515, GO:0004672, protein homodimerization activity, identical protein binding, protein binding, protein kinase activity, GO:1905337, GO:1900034, GO:0034620, GO:0034620, GO:0006468, positive regulation of aggrephagy, regulation of cellular response to heat, cellular response to unfolded protein, cellular response to unfolded protein, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000152147 chr2 38751534 38785000 + GEMIN6 protein_coding GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]. 79833 GO:0097504, GO:0034719, GO:0032797, GO:0032797, GO:0016604, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, Gemini of coiled bodies, SMN-Sm protein complex, SMN complex, SMN complex, nuclear body, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0051170, GO:0000398, GO:0000387, GO:0000387, GO:0000387, GO:0000245, import into nucleus, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal complex assembly, 5 2 11 16 3 12 3 2 7 ENSG00000152154 chr2 39664982 39717963 + TMEM178A protein_coding 130733 GO:0016021, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0051480, GO:0051480, GO:0045671, GO:0045671, regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, negative regulation of osteoclast differentiation, negative regulation of osteoclast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000152192 chr13 78598362 78603560 - POU4F1 protein_coding This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]. 5457 GO:0090575, GO:0043005, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, neuron projection, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0051020, GO:0043565, GO:0005515, GO:0003697, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, GTPase binding, sequence-specific DNA binding, protein binding, single-stranded DNA binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001208, GO:2000679, GO:1901796, GO:0072332, GO:0071392, GO:0071345, GO:0071158, GO:0060384, GO:0051355, GO:0051090, GO:0050767, GO:0048935, GO:0048880, GO:0048665, GO:0045944, GO:0045672, GO:0043524, GO:0043524, GO:0043069, GO:0043065, GO:0031175, GO:0021986, GO:0021953, GO:0021559, GO:0021535, GO:0010629, GO:0010628, GO:0007507, GO:0007498, GO:0007416, GO:0007409, GO:0006357, GO:0003223, GO:0001967, GO:0000122, negative regulation of transcription elongation by RNA polymerase I, positive regulation of transcription regulatory region DNA binding, regulation of signal transduction by p53 class mediator, intrinsic apoptotic signaling pathway by p53 class mediator, cellular response to estradiol stimulus, cellular response to cytokine stimulus, positive regulation of cell cycle arrest, innervation, proprioception involved in equilibrioception, regulation of DNA-binding transcription factor activity, regulation of neurogenesis, peripheral nervous system neuron development, sensory system development, neuron fate specification, positive regulation of transcription by RNA polymerase II, positive regulation of osteoclast differentiation, negative regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, negative regulation of programmed cell death, positive regulation of apoptotic process, neuron projection development, habenula development, central nervous system neuron differentiation, trigeminal nerve development, cell migration in hindbrain, negative regulation of gene expression, positive regulation of gene expression, heart development, mesoderm development, synapse assembly, axonogenesis, regulation of transcription by RNA polymerase II, ventricular compact myocardium morphogenesis, suckling behavior, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000152193 chr13 78614291 78659179 - RNF219 protein_coding 79596 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0004842, GO:0003682, metal ion binding, protein binding, ubiquitin-protein transferase activity, chromatin binding, GO:0051865, GO:0006513, GO:0006275, protein autoubiquitination, protein monoubiquitination, regulation of DNA replication, 22 20 46 36 22 43 21 22 34 ENSG00000152207 chr13 48653711 48711226 + CYSLTR2 protein_coding The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008]. 57105 GO:0005887, GO:0005886, GO:0005575, integral component of plasma membrane, plasma membrane, cellular_component, GO:0008528, GO:0005515, GO:0004974, GO:0001631, G protein-coupled peptide receptor activity, protein binding, leukotriene receptor activity, cysteinyl leukotriene receptor activity, GO:0061737, GO:0007218, GO:0007186, GO:0006955, leukotriene signaling pathway, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, immune response, 48 164 194 42 65 54 32 41 28 ENSG00000152208 chr4 92303622 93810157 + GRID2 protein_coding The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]. 2895 GO:0098978, GO:0045211, GO:0045202, GO:0043197, GO:0008328, GO:0005887, GO:0005886, GO:0005886, glutamatergic synapse, postsynaptic membrane, synapse, dendritic spine, ionotropic glutamate receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1904315, GO:0097110, GO:0038023, GO:0030165, GO:0015276, GO:0008066, GO:0005515, GO:0004970, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, scaffold protein binding, signaling receptor activity, PDZ domain binding, ligand-gated ion channel activity, glutamate receptor activity, protein binding, ionotropic glutamate receptor activity, GO:1904861, GO:1900454, GO:0099151, GO:0060134, GO:0060079, GO:0051965, GO:0050804, GO:0043523, GO:0035249, GO:0035249, GO:0035235, GO:0034613, GO:0034220, GO:0021707, GO:0010975, GO:0007215, GO:0007157, excitatory synapse assembly, positive regulation of long-term synaptic depression, regulation of postsynaptic density assembly, prepulse inhibition, excitatory postsynaptic potential, positive regulation of synapse assembly, modulation of chemical synaptic transmission, regulation of neuron apoptotic process, synaptic transmission, glutamatergic, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, cellular protein localization, ion transmembrane transport, cerebellar granule cell differentiation, regulation of neuron projection development, glutamate receptor signaling pathway, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, 0 0 0 0 0 0 0 0 0 ENSG00000152213 chr13 49628299 49633872 + ARL11 protein_coding This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010]. 115761 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0005525, GO:0005515, GTP binding, protein binding, GO:0016192, GO:0006886, GO:0002244, vesicle-mediated transport, intracellular protein transport, hematopoietic progenitor cell differentiation, 948 754 1147 203 380 320 258 357 314 ENSG00000152214 chr18 42743227 43115691 - RIT2 protein_coding RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]. 6014 GO:0097447, GO:0045202, GO:0045121, GO:0044297, GO:0043005, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005634, GO:0005634, dendritic tree, synapse, membrane raft, cell body, neuron projection, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, nucleus, GO:0042802, GO:0030215, GO:0019003, GO:0005525, GO:0005525, GO:0005516, GO:0005516, GO:0005516, GO:0005515, GO:0003924, GO:0003924, GO:0003924, GO:0003682, identical protein binding, semaphorin receptor binding, GDP binding, GTP binding, GTP binding, calmodulin binding, calmodulin binding, calmodulin binding, protein binding, GTPase activity, GTPase activity, GTPase activity, chromatin binding, GO:0050848, GO:0045944, GO:0043410, GO:0035556, GO:0032507, GO:0032489, GO:0030100, GO:0010977, GO:0010976, GO:0010976, GO:0010976, GO:0007268, GO:0007265, GO:0007265, GO:0007264, GO:0007189, GO:0000165, regulation of calcium-mediated signaling, positive regulation of transcription by RNA polymerase II, positive regulation of MAPK cascade, intracellular signal transduction, maintenance of protein location in cell, regulation of Cdc42 protein signal transduction, regulation of endocytosis, negative regulation of neuron projection development, positive regulation of neuron projection development, positive regulation of neuron projection development, positive regulation of neuron projection development, chemical synaptic transmission, Ras protein signal transduction, Ras protein signal transduction, small GTPase mediated signal transduction, adenylate cyclase-activating G protein-coupled receptor signaling pathway, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000152217 chr18 44680173 45068510 + SETBP1 protein_coding This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 26040 GO:0016604, GO:0005829, GO:0005654, nuclear body, cytosol, nucleoplasm, GO:0005515, GO:0003677, protein binding, DNA binding, 20 26 56 23 29 97 27 13 63 ENSG00000152219 chr11 30323051 30338227 + ARL14EP protein_coding The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]. 120534 GO:0043231, GO:0043231, GO:0005925, GO:0005886, GO:0005829, GO:0005730, GO:0005654, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, focal adhesion, plasma membrane, cytosol, nucleolus, nucleoplasm, GO:0005515, protein binding, 33 10 48 72 17 61 49 8 60 ENSG00000152223 chr18 45847609 45967339 - EPG5 protein_coding This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]. 57724 GO:0048471, GO:0005764, GO:0005737, perinuclear region of cytoplasm, lysosome, cytoplasm, GO:0005515, protein binding, GO:1990786, GO:0097352, GO:0034162, GO:0032456, GO:0008333, GO:0006862, cellular response to dsDNA, autophagosome maturation, toll-like receptor 9 signaling pathway, endocytic recycling, endosome to lysosome transport, nucleotide transport, 680 826 1075 419 635 733 506 440 519 ENSG00000152229 chr18 45983536 46072272 - PSTPIP2 protein_coding 9050 GO:0005886, GO:0005884, GO:0005856, GO:0005829, GO:0005737, plasma membrane, actin filament, cytoskeleton, cytosol, cytoplasm, GO:0051015, GO:0008092, actin filament binding, cytoskeletal protein binding, GO:0030041, GO:0016477, actin filament polymerization, cell migration, 238 344 677 213 396 565 193 266 449 ENSG00000152234 chr18 46080248 46104334 - ATP5F1A protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]. 498 GO:0070062, GO:0045261, GO:0045259, GO:0016020, GO:0016020, GO:0008180, GO:0005886, GO:0005886, GO:0005759, GO:0005753, GO:0005743, GO:0005739, GO:0005739, extracellular exosome, proton-transporting ATP synthase complex, catalytic core F(1), proton-transporting ATP synthase complex, membrane, membrane, COP9 signalosome, plasma membrane, plasma membrane, mitochondrial matrix, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0046933, GO:0046933, GO:0046933, GO:0043532, GO:0043531, GO:0042288, GO:0016887, GO:0005524, GO:0005524, GO:0005515, GO:0003723, proton-transporting ATP synthase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, angiostatin binding, ADP binding, MHC class I protein binding, ATPase activity, ATP binding, ATP binding, protein binding, RNA binding, GO:0043536, GO:0042776, GO:0042776, GO:0042407, GO:0015986, GO:0006754, GO:0006754, GO:0006754, GO:0006629, GO:0001937, positive regulation of blood vessel endothelial cell migration, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, ATP biosynthetic process, ATP biosynthetic process, ATP biosynthetic process, lipid metabolic process, negative regulation of endothelial cell proliferation, 234 181 323 374 197 463 338 217 305 ENSG00000152240 chr18 46104332 46128333 + HAUS1 protein_coding HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]. 115106 GO:0070652, GO:0070652, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005813, GO:0000922, HAUS complex, HAUS complex, microtubule, cytosol, cytosol, cytosol, centrosome, spindle pole, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097711, GO:0051301, GO:0051225, GO:0051225, GO:0010389, GO:0007098, GO:0007098, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, spindle assembly, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, centrosome cycle, G2/M transition of mitotic cell cycle, 13 8 11 17 14 30 18 13 19 ENSG00000152242 chr18 46173553 46266991 + C18orf25 protein_coding 147339 GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0016567, GO:0006511, protein ubiquitination, ubiquitin-dependent protein catabolic process, 724 963 986 619 953 1033 558 782 821 ENSG00000152253 chr2 168834132 168913371 - SPC25 protein_coding This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. [provided by RefSeq, Jul 2008]. 57405 GO:0031262, GO:0031262, GO:0005829, GO:0005829, GO:0005634, GO:0000777, GO:0000777, Ndc80 complex, Ndc80 complex, cytosol, cytosol, nucleus, condensed chromosome kinetochore, condensed chromosome kinetochore, GO:0005515, protein binding, GO:0051301, GO:0007059, GO:0007059, GO:0007052, cell division, chromosome segregation, chromosome segregation, mitotic spindle organization, 0 0 0 0 2 0 0 0 0 ENSG00000152254 chr2 168901240 168910000 + G6PC2 protein_coding This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 57818 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0004346, GO:0004346, glucose-6-phosphatase activity, glucose-6-phosphatase activity, GO:0051156, GO:0050796, GO:0042593, GO:0016311, GO:0006094, GO:0006094, GO:0006094, glucose 6-phosphate metabolic process, regulation of insulin secretion, glucose homeostasis, dephosphorylation, gluconeogenesis, gluconeogenesis, gluconeogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000152256 chr2 172555373 172608669 + PDK1 protein_coding Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]. 5163 GO:0005967, GO:0005759, GO:0005739, GO:0005739, GO:0005730, GO:0005654, mitochondrial pyruvate dehydrogenase complex, mitochondrial matrix, mitochondrion, mitochondrion, nucleolus, nucleoplasm, GO:0005524, GO:0005515, GO:0004740, GO:0004740, GO:0004674, GO:0004672, ATP binding, protein binding, pyruvate dehydrogenase (acetyl-transferring) kinase activity, pyruvate dehydrogenase (acetyl-transferring) kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1904183, GO:0097411, GO:0042593, GO:0010906, GO:0010510, GO:0008631, GO:0008283, GO:0006468, GO:0006006, negative regulation of pyruvate dehydrogenase activity, hypoxia-inducible factor-1alpha signaling pathway, glucose homeostasis, regulation of glucose metabolic process, regulation of acetyl-CoA biosynthetic process from pyruvate, intrinsic apoptotic signaling pathway in response to oxidative stress, cell population proliferation, protein phosphorylation, glucose metabolic process, 321 369 444 292 457 458 400 381 379 ENSG00000152266 chr11 13492055 13496181 - PTH protein_coding This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 5741 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0051428, GO:0051428, GO:0048018, GO:0047485, GO:0031857, GO:0031856, GO:0005515, GO:0005179, GO:0005179, peptide hormone receptor binding, peptide hormone receptor binding, receptor ligand activity, protein N-terminus binding, type 1 parathyroid hormone receptor binding, parathyroid hormone receptor binding, protein binding, hormone activity, hormone activity, GO:1900158, GO:0071774, GO:0071107, GO:0060732, GO:0046686, GO:0046326, GO:0046058, GO:0045944, GO:0045725, GO:0045471, GO:0045453, GO:0042493, GO:0034645, GO:0033280, GO:0032331, GO:0030501, GO:0010629, GO:0010468, GO:0010288, GO:0008628, GO:0007267, GO:0007266, GO:0007202, GO:0007189, GO:0007189, GO:0007186, GO:0006874, GO:0001501, negative regulation of bone mineralization involved in bone maturation, response to fibroblast growth factor, response to parathyroid hormone, positive regulation of inositol phosphate biosynthetic process, response to cadmium ion, positive regulation of glucose import, cAMP metabolic process, positive regulation of transcription by RNA polymerase II, positive regulation of glycogen biosynthetic process, response to ethanol, bone resorption, response to drug, cellular macromolecule biosynthetic process, response to vitamin D, negative regulation of chondrocyte differentiation, positive regulation of bone mineralization, negative regulation of gene expression, regulation of gene expression, response to lead ion, hormone-mediated apoptotic signaling pathway, cell-cell signaling, Rho protein signal transduction, activation of phospholipase C activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cellular calcium ion homeostasis, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000152270 chr11 14643723 14872044 + PDE3B protein_coding 5140 GO:0032045, GO:0016021, GO:0016020, GO:0016020, GO:0016020, GO:0005829, GO:0005794, GO:0005783, guanyl-nucleotide exchange factor complex, integral component of membrane, membrane, membrane, membrane, cytosol, Golgi apparatus, endoplasmic reticulum, GO:0046872, GO:0043422, GO:0043422, GO:0005515, GO:0004119, GO:0004115, GO:0004114, GO:0004114, GO:0004114, metal ion binding, protein kinase B binding, protein kinase B binding, protein binding, cGMP-inhibited cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0050995, GO:0043951, GO:0043951, GO:0033629, GO:0032869, GO:0016525, GO:0007186, GO:0007165, GO:0007162, GO:0001525, negative regulation of lipid catabolic process, negative regulation of cAMP-mediated signaling, negative regulation of cAMP-mediated signaling, negative regulation of cell adhesion mediated by integrin, cellular response to insulin stimulus, negative regulation of angiogenesis, G protein-coupled receptor signaling pathway, signal transduction, negative regulation of cell adhesion, angiogenesis, 1451 1370 1714 859 995 1079 959 884 918 ENSG00000152284 chr2 85133410 85310388 + TCF7L1 protein_coding This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]. 83439 GO:1990907, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, beta-catenin-TCF complex, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0003700, GO:0003677, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904837, GO:0060070, GO:0030111, GO:0006357, GO:0006355, GO:0006325, beta-catenin-TCF complex assembly, canonical Wnt signaling pathway, regulation of Wnt signaling pathway, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin organization, 36 29 41 28 43 58 26 24 44 ENSG00000152291 chr2 85318020 85328425 - TGOLN2 protein_coding This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-Golgi network, and may play a role in exocytic vesicle formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]. 10618 GO:0030665, GO:0030140, GO:0030133, GO:0016021, GO:0005886, GO:0005802, GO:0005802, GO:0005794, GO:0005788, GO:0005768, GO:0005654, clathrin-coated vesicle membrane, trans-Golgi network transport vesicle, transport vesicle, integral component of membrane, plasma membrane, trans-Golgi network, trans-Golgi network, Golgi apparatus, endoplasmic reticulum lumen, endosome, nucleoplasm, GO:0005515, protein binding, GO:0061024, GO:0044267, GO:0043687, membrane organization, cellular protein metabolic process, post-translational protein modification, 5883 5140 7404 1940 2926 3201 2477 2646 2858 ENSG00000152292 chr2 85418721 85437029 + SH2D6 protein_coding 284948 GO:0005737, cytoplasm, GO:0035556, GO:0007169, intracellular signal transduction, transmembrane receptor protein tyrosine kinase signaling pathway, 0 0 2 1 1 3 0 1 0 ENSG00000152315 chr14 90061765 90185857 + KCNK13 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]. 56659 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0022841, GO:0005244, potassium ion leak channel activity, voltage-gated ion channel activity, GO:0071805, GO:0034765, GO:0030322, potassium ion transmembrane transport, regulation of ion transmembrane transport, stabilization of membrane potential, 0 0 0 1 0 0 0 0 0 ENSG00000152332 chr1 162497251 162529629 + UHMK1 protein_coding The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 127933 GO:0071598, GO:0071598, GO:0032839, GO:0030496, GO:0030424, GO:0005794, GO:0005654, GO:0005634, GO:0005634, neuronal ribonucleoprotein granule, neuronal ribonucleoprotein granule, dendrite cytoplasm, midbody, axon, Golgi apparatus, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0043021, GO:0043021, GO:0016740, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0003723, protein threonine kinase activity, protein serine kinase activity, ribonucleoprotein complex binding, ribonucleoprotein complex binding, transferase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, RNA binding, GO:0046825, GO:0046825, GO:0046777, GO:0045948, GO:0045948, GO:0031175, GO:0018105, GO:0018105, GO:0018105, GO:0007050, GO:0007050, regulation of protein export from nucleus, regulation of protein export from nucleus, protein autophosphorylation, positive regulation of translational initiation, positive regulation of translational initiation, neuron projection development, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, cell cycle arrest, cell cycle arrest, 674 743 996 554 489 794 472 424 612 ENSG00000152348 chr5 81972025 82276857 + ATG10 protein_coding Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]. 83734 GO:0005829, cytosol, GO:0019777, GO:0019777, GO:0005515, Atg12 transferase activity, Atg12 transferase activity, protein binding, GO:0032446, GO:0032446, GO:0031401, GO:0016236, GO:0016236, GO:0015031, GO:0006983, GO:0006914, GO:0006497, GO:0006497, protein modification by small protein conjugation, protein modification by small protein conjugation, positive regulation of protein modification process, macroautophagy, macroautophagy, protein transport, ER overload response, autophagy, protein lipidation, protein lipidation, 342 219 514 962 554 1065 648 477 818 ENSG00000152359 chr5 75674124 75717481 - POC5 protein_coding 134359 GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005654, cytosol, centriole, centrosome, centrosome, nucleoplasm, GO:0005515, protein binding, GO:0007049, cell cycle, 11 45 32 48 53 51 17 55 50 ENSG00000152377 chr5 136975298 137598379 - SPOCK1 protein_coding This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008]. 6695 GO:0033268, GO:0031594, GO:0016528, GO:0014069, GO:0005737, GO:0005615, node of Ranvier, neuromuscular junction, sarcoplasm, postsynaptic density, cytoplasm, extracellular space, GO:0008191, GO:0005515, GO:0005509, GO:0004869, GO:0004867, metalloendopeptidase inhibitor activity, protein binding, calcium ion binding, cysteine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0022008, GO:0021953, GO:0010977, GO:0010951, GO:0010812, GO:0007399, GO:0007155, GO:0001764, GO:0001558, neurogenesis, central nervous system neuron differentiation, negative regulation of neuron projection development, negative regulation of endopeptidase activity, negative regulation of cell-substrate adhesion, nervous system development, cell adhesion, neuron migration, regulation of cell growth, 0 1 1 2 1 2 0 1 0 ENSG00000152380 chr5 80487969 80542563 + FAM151B protein_coding 167555 GO:0005515, protein binding, 30 30 25 34 55 58 56 31 27 ENSG00000152382 chr1 166856510 166876327 - TADA1 protein_coding TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]. 117143 GO:0030914, GO:0005925, GO:0005829, GO:0005654, GO:0005634, GO:0000124, STAGA complex, focal adhesion, cytosol, nucleoplasm, nucleus, SAGA complex, GO:0003713, GO:0003713, transcription coactivator activity, transcription coactivator activity, GO:1903508, GO:0043966, GO:0006357, positive regulation of nucleic acid-templated transcription, histone H3 acetylation, regulation of transcription by RNA polymerase II, 7 15 22 30 8 38 19 11 20 ENSG00000152402 chr11 106674012 107018524 - GUCY1A2 protein_coding Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 2977 GO:0005737, cytoplasm, GO:0044877, GO:0020037, GO:0005525, GO:0005515, GO:0004383, protein-containing complex binding, heme binding, GTP binding, protein binding, guanylate cyclase activity, GO:0035556, GO:0010750, GO:0007165, GO:0006182, intracellular signal transduction, positive regulation of nitric oxide mediated signal transduction, signal transduction, cGMP biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000152404 chr11 107326345 107457844 - CWF19L2 protein_coding 143884 GO:0071014, post-mRNA release spliceosomal complex, GO:0005515, protein binding, GO:0000398, mRNA splicing, via spliceosome, 216 237 258 128 159 149 177 137 130 ENSG00000152409 chr5 79236189 79327215 + JMY protein_coding 133746 GO:0031252, GO:0005856, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cell leading edge, cytoskeleton, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0071933, GO:0005515, GO:0003779, GO:0003713, GO:0003713, Arp2/3 complex binding, protein binding, actin binding, transcription coactivator activity, transcription coactivator activity, GO:1903508, GO:1901796, GO:0072332, GO:0070358, GO:0070060, GO:0070060, GO:0051091, GO:0051091, GO:0043065, GO:0043065, GO:0034314, GO:0034314, GO:0007050, GO:0007050, GO:0006357, GO:0006281, positive regulation of nucleic acid-templated transcription, regulation of signal transduction by p53 class mediator, intrinsic apoptotic signaling pathway by p53 class mediator, actin polymerization-dependent cell motility, 'de novo' actin filament nucleation, 'de novo' actin filament nucleation, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of apoptotic process, positive regulation of apoptotic process, Arp2/3 complex-mediated actin nucleation, Arp2/3 complex-mediated actin nucleation, cell cycle arrest, cell cycle arrest, regulation of transcription by RNA polymerase II, DNA repair, 267 231 602 547 245 629 288 127 290 ENSG00000152413 chr5 79372636 79514217 - HOMER1 protein_coding This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq, Jul 2008]. 9456 GO:0044309, GO:0043197, GO:0030425, GO:0014069, GO:0005886, GO:0005829, GO:0005737, neuron spine, dendritic spine, dendrite, postsynaptic density, plasma membrane, cytosol, cytoplasm, GO:0044325, GO:0035591, GO:0035256, GO:0005515, ion channel binding, signaling adaptor activity, G protein-coupled glutamate receptor binding, protein binding, GO:2001257, GO:2001256, GO:2001256, GO:1902950, GO:0051966, GO:0051592, GO:0051262, GO:0009967, GO:0007268, GO:0007216, GO:0007206, regulation of cation channel activity, regulation of store-operated calcium entry, regulation of store-operated calcium entry, regulation of dendritic spine maintenance, regulation of synaptic transmission, glutamatergic, response to calcium ion, protein tetramerization, positive regulation of signal transduction, chemical synaptic transmission, G protein-coupled glutamate receptor signaling pathway, phospholipase C-activating G protein-coupled glutamate receptor signaling pathway, 2 3 20 97 103 149 78 76 86 ENSG00000152422 chr5 83077498 83353787 + XRCC4 protein_coding The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]. 7518 GO:0070419, GO:0032807, GO:0032807, GO:0005958, GO:0005958, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000793, nonhomologous end joining complex, DNA ligase IV complex, DNA ligase IV complex, DNA-dependent protein kinase-DNA ligase 4 complex, DNA-dependent protein kinase-DNA ligase 4 complex, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, condensed chromosome, GO:0042802, GO:0016874, GO:0008022, GO:0005515, GO:0003677, identical protein binding, ligase activity, protein C-terminus binding, protein binding, DNA binding, GO:0075713, GO:0071285, GO:0051351, GO:0051351, GO:0051103, GO:0051103, GO:0033152, GO:0010165, GO:0010165, GO:0006303, GO:0006303, GO:0006303, GO:0006303, GO:0006303, GO:0006302, establishment of integrated proviral latency, cellular response to lithium ion, positive regulation of ligase activity, positive regulation of ligase activity, DNA ligation involved in DNA repair, DNA ligation involved in DNA repair, immunoglobulin V(D)J recombination, response to X-ray, response to X-ray, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair, 130 92 141 37 97 72 76 82 81 ENSG00000152430 chr2 197726879 197786762 - BOLL protein_coding This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 66037 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0008494, GO:0008494, GO:0005515, GO:0003730, translation activator activity, translation activator activity, protein binding, mRNA 3'-UTR binding, GO:0070935, GO:0051321, GO:0045948, GO:0045948, GO:0030154, GO:0007283, GO:0007275, 3'-UTR-mediated mRNA stabilization, meiotic cell cycle, positive regulation of translational initiation, positive regulation of translational initiation, cell differentiation, spermatogenesis, multicellular organism development, 0 0 1 0 0 0 0 0 2 ENSG00000152433 chr19 57363477 57379565 + ZNF547 protein_coding 284306 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 7 7 3 35 3 18 10 5 5 ENSG00000152439 chr19 57499915 57518404 + ZNF773 protein_coding 374928 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 17 8 11 17 7 11 21 7 2 ENSG00000152443 chr19 57746796 57758159 + ZNF776 protein_coding 284309 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 436 409 417 195 355 322 239 279 248 ENSG00000152454 chr19 57940833 57947675 - ZNF256 protein_coding 10172 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 11 7 8 27 6 17 20 5 18 ENSG00000152455 chr10 14878820 14904315 + SUV39H2 protein_coding 79723 GO:0005654, GO:0005634, GO:0000785, GO:0000775, nucleoplasm, nucleus, chromatin, chromosome, centromeric region, GO:1904047, GO:0046974, GO:0046974, GO:0008270, GO:0005515, GO:0000976, S-adenosyl-L-methionine binding, histone methyltransferase activity (H3-K9 specific), histone methyltransferase activity (H3-K9 specific), zinc ion binding, protein binding, transcription regulatory region sequence-specific DNA binding, GO:0071456, GO:0048511, GO:0045892, GO:0042754, GO:0036124, GO:0036123, GO:0034968, GO:0030154, GO:0007049, GO:0006338, GO:0006333, GO:0000122, cellular response to hypoxia, rhythmic process, negative regulation of transcription, DNA-templated, negative regulation of circadian rhythm, histone H3-K9 trimethylation, histone H3-K9 dimethylation, histone lysine methylation, cell differentiation, cell cycle, chromatin remodeling, chromatin assembly or disassembly, negative regulation of transcription by RNA polymerase II, 14 5 21 19 25 19 15 10 8 ENSG00000152457 chr10 14897359 14954432 - DCLRE1C protein_coding This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 64421 GO:0070419, GO:0005794, GO:0005654, GO:0005654, nonhomologous end joining complex, Golgi apparatus, nucleoplasm, nucleoplasm, GO:0035312, GO:0008409, GO:0005515, GO:0004519, GO:0003684, GO:0000014, 5'-3' exodeoxyribonuclease activity, 5'-3' exonuclease activity, protein binding, endonuclease activity, damaged DNA binding, single-stranded DNA endodeoxyribonuclease activity, GO:0090305, GO:0036297, GO:0033151, GO:0031848, GO:0030183, GO:0010212, GO:0006303, GO:0006303, GO:0002250, nucleic acid phosphodiester bond hydrolysis, interstrand cross-link repair, V(D)J recombination, protection from non-homologous end joining at telomere, B cell differentiation, response to ionizing radiation, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, adaptive immune response, 102 91 108 95 134 100 101 95 83 ENSG00000152463 chr10 15032227 15073852 + OLAH protein_coding 55301 GO:0005829, cytosol, GO:0047381, GO:0016296, GO:0016295, GO:0004320, dodecanoyl-[acyl-carrier-protein] hydrolase activity, palmitoyl-[acyl-carrier-protein] hydrolase activity, myristoyl-[acyl-carrier-protein] hydrolase activity, oleoyl-[acyl-carrier-protein] hydrolase activity, GO:0051792, GO:0008610, medium-chain fatty acid biosynthetic process, lipid biosynthetic process, 4 4 5 0 2 8 2 1 7 ENSG00000152464 chr10 15097180 15139818 + RPP38 protein_coding 10557 GO:0030681, GO:0030681, GO:0005730, GO:0005654, GO:0001650, GO:0001650, multimeric ribonuclease P complex, multimeric ribonuclease P complex, nucleolus, nucleoplasm, fibrillar center, fibrillar center, GO:0033204, GO:0033204, GO:0005515, GO:0004526, GO:0004526, ribonuclease P RNA binding, ribonuclease P RNA binding, protein binding, ribonuclease P activity, ribonuclease P activity, GO:0090502, GO:0006364, GO:0001682, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, rRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, tRNA 5'-leader removal, 33 10 21 34 15 17 24 29 36 ENSG00000152465 chr10 15102584 15168693 - NMT2 protein_coding This gene encodes one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 9397 GO:0043657, GO:0019898, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, host cell, extrinsic component of membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, GO:0005515, GO:0004379, GO:0004379, GO:0004379, protein binding, glycylpeptide N-tetradecanoyltransferase activity, glycylpeptide N-tetradecanoyltransferase activity, glycylpeptide N-tetradecanoyltransferase activity, GO:0075733, GO:0022400, GO:0018008, GO:0018008, intracellular transport of virus, regulation of rhodopsin mediated signaling pathway, N-terminal peptidyl-glycine N-myristoylation, N-terminal peptidyl-glycine N-myristoylation, 40 25 47 100 43 116 70 45 81 ENSG00000152467 chr19 58034032 58054631 + ZSCAN1 protein_coding 284312 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000152475 chr19 58367618 58381060 - ZNF837 protein_coding 116412 GO:0005634, nucleus, GO:0046872, GO:0042802, GO:0005515, GO:0000981, GO:0000978, metal ion binding, identical protein binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 0 0 0 1 4 0 0 1 ENSG00000152484 chr13 27066142 27171896 - USP12 protein_coding 219333 GO:0005829, GO:0005654, GO:0005634, GO:0005575, cytosol, nucleoplasm, nucleus, cellular_component, GO:0046872, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004197, GO:0004197, metal ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:0016579, GO:0016579, GO:0016579, GO:0006511, protein deubiquitination, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, 124 94 228 146 83 164 130 79 150 ENSG00000152492 chr3 191329077 191398670 + CCDC50 protein_coding This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. 152137 GO:0005829, cytosol, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0007605, sensory perception of sound, 27 23 39 85 50 80 55 42 27 ENSG00000152495 chr5 111223653 111494886 + CAMK4 protein_coding The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]. 814 GO:0070062, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001650, extracellular exosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:0009931, GO:0005524, GO:0005516, GO:0004683, GO:0004683, calcium-dependent protein serine/threonine kinase activity, ATP binding, calmodulin binding, calmodulin-dependent protein kinase activity, calmodulin-dependent protein kinase activity, GO:0046777, GO:0045893, GO:0045670, GO:0043011, GO:0035556, GO:0033081, GO:0018105, GO:0007616, GO:0007165, GO:0006954, GO:0006468, GO:0002372, GO:0002250, protein autophosphorylation, positive regulation of transcription, DNA-templated, regulation of osteoclast differentiation, myeloid dendritic cell differentiation, intracellular signal transduction, regulation of T cell differentiation in thymus, peptidyl-serine phosphorylation, long-term memory, signal transduction, inflammatory response, protein phosphorylation, myeloid dendritic cell cytokine production, adaptive immune response, 121 95 210 538 121 510 414 74 285 ENSG00000152503 chr5 115124762 115180546 - TRIM36 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 55521 GO:0005856, GO:0005829, GO:0005737, GO:0001669, cytoskeleton, cytosol, cytoplasm, acrosomal vesicle, GO:0043014, GO:0008270, GO:0005515, GO:0004842, alpha-tubulin binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0070507, GO:0051726, GO:0007340, GO:0007051, GO:0000281, GO:0000209, regulation of microtubule cytoskeleton organization, regulation of cell cycle, acrosome reaction, spindle organization, mitotic cytokinesis, protein polyubiquitination, 2 5 14 6 5 12 1 0 3 ENSG00000152518 chr2 43222402 43226609 - ZFP36L2 protein_coding This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq, Jul 2008]. 678 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0035925, GO:0005515, GO:0003723, metal ion binding, mRNA 3'-UTR AU-rich region binding, protein binding, RNA binding, GO:2000737, GO:1901991, GO:1900153, GO:0097011, GO:0071560, GO:0071385, GO:0071364, GO:0071356, GO:0070371, GO:0061158, GO:0061158, GO:0060216, GO:0048103, GO:0045599, GO:0045577, GO:0044344, GO:0043488, GO:0043488, GO:0035019, GO:0033077, GO:0030097, GO:0009611, GO:0006402, GO:0000288, negative regulation of stem cell differentiation, negative regulation of mitotic cell cycle phase transition, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, cellular response to granulocyte macrophage colony-stimulating factor stimulus, cellular response to transforming growth factor beta stimulus, cellular response to glucocorticoid stimulus, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, ERK1 and ERK2 cascade, 3'-UTR-mediated mRNA destabilization, 3'-UTR-mediated mRNA destabilization, definitive hemopoiesis, somatic stem cell division, negative regulation of fat cell differentiation, regulation of B cell differentiation, cellular response to fibroblast growth factor stimulus, regulation of mRNA stability, regulation of mRNA stability, somatic stem cell population maintenance, T cell differentiation in thymus, hemopoiesis, response to wounding, mRNA catabolic process, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, 6969 6228 17253 1124 2562 2346 1739 2293 2472 ENSG00000152520 chr13 28138506 28295335 + PAN3 protein_coding 255967 GO:0031251, GO:0031251, GO:0005829, GO:0000932, PAN complex, PAN complex, cytosol, P-body, GO:0046872, GO:0005524, GO:0005515, GO:0004672, GO:0004535, GO:0004535, GO:0003723, metal ion binding, ATP binding, protein binding, protein kinase activity, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, RNA binding, GO:0090503, GO:0010606, GO:0006605, GO:0006468, GO:0006397, GO:0000290, GO:0000289, GO:0000289, RNA phosphodiester bond hydrolysis, exonucleolytic, positive regulation of cytoplasmic mRNA processing body assembly, protein targeting, protein phosphorylation, mRNA processing, deadenylation-dependent decapping of nuclear-transcribed mRNA, nuclear-transcribed mRNA poly(A) tail shortening, nuclear-transcribed mRNA poly(A) tail shortening, 2325 2722 2938 1854 2597 2475 2118 1803 1913 ENSG00000152527 chr2 43637273 43767987 + PLEKHH2 protein_coding 130271 GO:0030864, GO:0030027, GO:0016604, GO:0005886, GO:0005829, GO:0005737, GO:0005654, cortical actin cytoskeleton, lamellipodium, nuclear body, plasma membrane, cytosol, cytoplasm, nucleoplasm, GO:0042802, GO:0005515, GO:0003779, identical protein binding, protein binding, actin binding, GO:0030835, negative regulation of actin filament depolymerization, 3 0 2 11 0 12 3 1 4 ENSG00000152556 chr12 48105139 48146404 + PFKM protein_coding Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]. 5213 GO:0016324, GO:0016020, GO:0005945, GO:0005945, GO:0005829, GO:0005634, apical plasma membrane, membrane, 6-phosphofructokinase complex, 6-phosphofructokinase complex, cytosol, nucleus, GO:0070095, GO:0070061, GO:0048029, GO:0046872, GO:0042802, GO:0042802, GO:0019900, GO:0016208, GO:0008022, GO:0005524, GO:0005524, GO:0005515, GO:0003872, GO:0003872, GO:0003872, GO:0003872, fructose-6-phosphate binding, fructose binding, monosaccharide binding, metal ion binding, identical protein binding, identical protein binding, kinase binding, AMP binding, protein C-terminus binding, ATP binding, ATP binding, protein binding, 6-phosphofructokinase activity, 6-phosphofructokinase activity, 6-phosphofructokinase activity, 6-phosphofructokinase activity, GO:0061621, GO:0061621, GO:0061615, GO:0046716, GO:0045944, GO:0030388, GO:0006096, GO:0006002, GO:0006002, GO:0006002, canonical glycolysis, canonical glycolysis, glycolytic process through fructose-6-phosphate, muscle cell cellular homeostasis, positive regulation of transcription by RNA polymerase II, fructose 1,6-bisphosphate metabolic process, glycolytic process, fructose 6-phosphate metabolic process, fructose 6-phosphate metabolic process, fructose 6-phosphate metabolic process, 15 10 31 5 25 51 35 4 29 ENSG00000152558 chr11 102396332 102470384 - TMEM123 protein_coding This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008]. 114908 GO:0031410, GO:0016021, GO:0009897, cytoplasmic vesicle, integral component of membrane, external side of plasma membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0070267, oncosis, 3181 3691 4525 1198 1727 1626 1355 1680 1508 ENSG00000152578 chr11 105609994 105982092 + GRIA4 protein_coding Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]. 2893 GO:1903561, GO:0045211, GO:0043197, GO:0043197, GO:0043025, GO:0032281, GO:0032281, GO:0030666, GO:0005886, GO:0005886, extracellular vesicle, postsynaptic membrane, dendritic spine, dendritic spine, neuronal cell body, AMPA glutamate receptor complex, AMPA glutamate receptor complex, endocytic vesicle membrane, plasma membrane, plasma membrane, GO:0038023, GO:0015276, GO:0004971, GO:0004971, GO:0004970, GO:0001540, signaling receptor activity, ligand-gated ion channel activity, AMPA glutamate receptor activity, AMPA glutamate receptor activity, ionotropic glutamate receptor activity, amyloid-beta binding, GO:2000310, GO:0035235, GO:0034220, GO:0007215, regulation of NMDA receptor activity, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, glutamate receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000152580 chr3 151425384 151458709 - IGSF10 protein_coding 285313 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:2001222, GO:0001503, regulation of neuron migration, ossification, 3 15 6 0 5 10 9 4 2 ENSG00000152582 chr5 35617844 35814611 + SPEF2 protein_coding 79925 GO:0097225, GO:0097225, GO:0036126, GO:0005794, GO:0005737, GO:0005576, GO:0002177, GO:0002177, sperm midpiece, sperm midpiece, sperm flagellum, Golgi apparatus, cytoplasm, extracellular region, manchette, manchette, GO:0003674, molecular_function, GO:0060541, GO:0048854, GO:0048705, GO:0007288, GO:0007288, GO:0007288, GO:0007283, GO:0003351, respiratory system development, brain morphogenesis, skeletal system morphogenesis, sperm axoneme assembly, sperm axoneme assembly, sperm axoneme assembly, spermatogenesis, epithelial cilium movement involved in extracellular fluid movement, 8 7 22 28 8 64 41 9 25 ENSG00000152583 chr4 87473335 87531061 - SPARCL1 protein_coding 8404 GO:0062023, GO:0005788, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, GO:0050840, GO:0005518, GO:0005515, GO:0005509, extracellular matrix binding, collagen binding, protein binding, calcium ion binding, GO:0048856, GO:0044267, GO:0043687, GO:0007165, anatomical structure development, cellular protein metabolic process, post-translational protein modification, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000152591 chr4 87608553 87616910 + DSPP protein_coding This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mutations in this gene are associated with dentinogenesis imperfecta and dentin dysplasia. This gene is present in a gene cluster on chromosome 4. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jan 2016]. 1834 GO:0031012, GO:0005737, GO:0005737, GO:0005634, GO:0005576, extracellular matrix, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0005518, GO:0005509, GO:0005201, collagen binding, calcium ion binding, extracellular matrix structural constituent, GO:1901329, GO:0097187, GO:0071895, GO:0031214, GO:0030198, GO:0007275, GO:0001503, GO:0001501, regulation of odontoblast differentiation, dentinogenesis, odontoblast differentiation, biomineral tissue development, extracellular matrix organization, multicellular organism development, ossification, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000152592 chr4 87650307 87664361 + DMP1 protein_coding Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 1758 GO:0031012, GO:0005788, GO:0005634, GO:0005576, extracellular matrix, endoplasmic reticulum lumen, nucleus, extracellular region, GO:0050840, GO:0005509, GO:0005178, extracellular matrix binding, calcium ion binding, integrin binding, GO:0070173, GO:0044267, GO:0043687, GO:0031214, GO:0030198, GO:0010811, GO:0001503, regulation of enamel mineralization, cellular protein metabolic process, post-translational protein modification, biomineral tissue development, extracellular matrix organization, positive regulation of cell-substrate adhesion, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000152595 chr4 87821411 87846817 + MEPE protein_coding This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 56955 GO:0031012, GO:0005788, extracellular matrix, endoplasmic reticulum lumen, GO:1990430, GO:0005515, GO:0005201, extracellular matrix protein binding, protein binding, extracellular matrix structural constituent, GO:0044267, GO:0043687, GO:0031214, GO:0001501, cellular protein metabolic process, post-translational protein modification, biomineral tissue development, skeletal system development, 0 0 1 0 0 0 0 0 0 ENSG00000152601 chr3 152243828 152465780 + MBNL1 protein_coding This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]. 4154 GO:0010494, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, cytoplasmic stress granule, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003725, GO:0003723, GO:0003723, GO:0003723, metal ion binding, protein binding, double-stranded RNA binding, RNA binding, RNA binding, RNA binding, GO:0045445, GO:0043484, GO:0030326, GO:0008380, GO:0007399, GO:0006397, GO:0001701, GO:0000381, myoblast differentiation, regulation of RNA splicing, embryonic limb morphogenesis, RNA splicing, nervous system development, mRNA processing, in utero embryonic development, regulation of alternative mRNA splicing, via spliceosome, 3909 4191 4618 2736 3185 3629 3009 2732 3074 ENSG00000152611 chr5 35904295 35938779 - CAPSL protein_coding 133690 GO:0005737, cytoplasm, GO:0005509, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000152620 chr5 36192592 36242279 - NADK2 protein_coding This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 133686 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0042803, GO:0005524, GO:0003951, GO:0003951, protein homodimerization activity, ATP binding, NAD+ kinase activity, NAD+ kinase activity, GO:0019674, GO:0019674, GO:0019674, GO:0016310, GO:0006741, NAD metabolic process, NAD metabolic process, NAD metabolic process, phosphorylation, NADP biosynthetic process, 26 22 38 29 22 44 32 20 16 ENSG00000152642 chr3 32105689 32168713 + GPD1L protein_coding The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]. 23171 GO:0070062, GO:0009331, GO:0005886, GO:0005829, GO:0005829, extracellular exosome, glycerol-3-phosphate dehydrogenase complex, plasma membrane, cytosol, cytosol, GO:0051287, GO:0044325, GO:0042803, GO:0017080, GO:0004367, NAD binding, ion channel binding, protein homodimerization activity, sodium channel regulator activity, glycerol-3-phosphate dehydrogenase [NAD+] activity, GO:2000649, GO:2000010, GO:0090038, GO:0086005, GO:0060373, GO:0046168, GO:0033137, GO:0019674, GO:0010765, GO:0006654, GO:0006116, GO:0005975, GO:0002027, regulation of sodium ion transmembrane transporter activity, positive regulation of protein localization to cell surface, negative regulation of protein kinase C signaling, ventricular cardiac muscle cell action potential, regulation of ventricular cardiac muscle cell membrane depolarization, glycerol-3-phosphate catabolic process, negative regulation of peptidyl-serine phosphorylation, NAD metabolic process, positive regulation of sodium ion transport, phosphatidic acid biosynthetic process, NADH oxidation, carbohydrate metabolic process, regulation of heart rate, 26 25 31 55 23 44 62 19 55 ENSG00000152661 chr6 121435577 121449727 + GJA1 protein_coding This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]. 2697 GO:0070160, GO:0045121, GO:0044291, GO:0043231, GO:0030660, GO:0030054, GO:0016324, GO:0014704, GO:0014704, GO:0005925, GO:0005922, GO:0005922, GO:0005921, GO:0005921, GO:0005916, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005789, GO:0005771, GO:0005769, GO:0005764, GO:0005741, GO:0005739, GO:0005737, GO:0005654, GO:0000139, tight junction, membrane raft, cell-cell contact zone, intracellular membrane-bounded organelle, Golgi-associated vesicle membrane, cell junction, apical plasma membrane, intercalated disc, intercalated disc, focal adhesion, connexin complex, connexin complex, gap junction, gap junction, fascia adherens, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, multivesicular body, early endosome, lysosome, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleoplasm, Golgi membrane, GO:1903763, GO:0097718, GO:0086075, GO:0071253, GO:0055077, GO:0034634, GO:0030165, GO:0017124, GO:0015631, GO:0015562, GO:0015075, GO:0008013, GO:0005515, GO:0005243, GO:0005243, gap junction channel activity involved in cell communication by electrical coupling, disordered domain specific binding, gap junction channel activity involved in cardiac conduction electrical coupling, connexin binding, gap junction hemi-channel activity, glutathione transmembrane transporter activity, PDZ domain binding, SH3 domain binding, tubulin binding, efflux transmembrane transporter activity, ion transmembrane transporter activity, beta-catenin binding, protein binding, gap junction channel activity, gap junction channel activity, GO:2000987, GO:2000810, GO:2000648, GO:2000279, GO:1905867, GO:1905772, GO:1905332, GO:1904707, GO:1904646, GO:1901164, GO:0140115, GO:0120162, GO:0097755, GO:0086064, GO:0086014, GO:0071374, GO:0071260, GO:0061045, GO:0060348, GO:0060044, GO:0051924, GO:0048812, GO:0046849, GO:0046697, GO:0045907, GO:0045732, GO:0043434, GO:0043123, GO:0042981, GO:0035633, GO:0035437, GO:0034775, GO:0034613, GO:0034405, GO:0034220, GO:0032526, GO:0032496, GO:0032355, GO:0032277, GO:0032024, GO:0030308, GO:0022898, GO:0016264, GO:0015867, GO:0014047, GO:0010652, GO:0010649, GO:0010644, GO:0010628, GO:0010232, GO:0009749, GO:0009268, GO:0007507, GO:0007283, GO:0007267, GO:0007267, GO:0007204, GO:0007165, GO:0006915, GO:0003158, GO:0003104, GO:0002931, GO:0002544, GO:0001937, GO:0000132, positive regulation of behavioral fear response, regulation of bicellular tight junction assembly, positive regulation of stem cell proliferation, negative regulation of DNA biosynthetic process, epididymis development, positive regulation of mesodermal cell differentiation, positive regulation of morphogenesis of an epithelium, positive regulation of vascular associated smooth muscle cell proliferation, cellular response to amyloid-beta, negative regulation of trophoblast cell migration, export across plasma membrane, positive regulation of cold-induced thermogenesis, positive regulation of blood vessel diameter, cell communication by electrical coupling involved in cardiac conduction, atrial cardiac muscle cell action potential, cellular response to parathyroid hormone stimulus, cellular response to mechanical stimulus, negative regulation of wound healing, bone development, negative regulation of cardiac muscle cell proliferation, regulation of calcium ion transport, neuron projection morphogenesis, bone remodeling, decidualization, positive regulation of vasoconstriction, positive regulation of protein catabolic process, response to peptide hormone, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, maintenance of blood-brain barrier, maintenance of protein localization in endoplasmic reticulum, glutathione transmembrane transport, cellular protein localization, response to fluid shear stress, ion transmembrane transport, response to retinoic acid, response to lipopolysaccharide, response to estradiol, negative regulation of gonadotropin secretion, positive regulation of insulin secretion, negative regulation of cell growth, regulation of transmembrane transporter activity, gap junction assembly, ATP transport, glutamate secretion, positive regulation of cell communication by chemical coupling, regulation of cell communication by electrical coupling, cell communication by electrical coupling, positive regulation of gene expression, vascular transport, response to glucose, response to pH, heart development, spermatogenesis, cell-cell signaling, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, signal transduction, apoptotic process, endothelium development, positive regulation of glomerular filtration, response to ischemia, chronic inflammatory response, negative regulation of endothelial cell proliferation, establishment of mitotic spindle orientation, 0 0 0 0 0 0 0 0 0 ENSG00000152669 chr5 55231152 55233680 - CCNO protein_coding This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]. 10309 GO:0097124, GO:0005737, GO:0005737, GO:0005730, GO:0005634, GO:0000307, cyclin A2-CDK2 complex, cytoplasm, cytoplasm, nucleolus, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:1903251, GO:0060271, GO:0051301, GO:0044772, GO:0042493, GO:0000278, GO:0000079, multi-ciliated epithelial cell differentiation, cilium assembly, cell division, mitotic cell cycle phase transition, response to drug, mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 0 0 0 0 0 0 0 0 0 ENSG00000152670 chr5 55738017 55817157 + DDX4 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 54514 GO:0071547, GO:0071546, GO:0048471, GO:0043186, GO:0005737, GO:0005634, piP-body, pi-body, perinuclear region of cytoplasm, P granule, cytoplasm, nucleus, GO:0016887, GO:0005524, GO:0003724, GO:0003723, ATPase activity, ATP binding, RNA helicase activity, RNA binding, GO:1990511, GO:0043046, GO:0034587, GO:0031047, GO:0030317, GO:0030154, GO:0010529, GO:0007283, GO:0007276, GO:0007275, GO:0007141, GO:0007140, piRNA biosynthetic process, DNA methylation involved in gamete generation, piRNA metabolic process, gene silencing by RNA, flagellated sperm motility, cell differentiation, negative regulation of transposition, spermatogenesis, gamete generation, multicellular organism development, male meiosis I, male meiotic nuclear division, 0 0 0 0 0 0 0 0 0 ENSG00000152672 chr2 70808643 70820600 - CLEC4F protein_coding 165530 GO:0016021, integral component of membrane, GO:0030246, carbohydrate binding, GO:0006897, endocytosis, 0 0 0 3 0 0 0 0 0 ENSG00000152683 chr2 32165841 32224379 + SLC30A6 protein_coding This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016]. 55676 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0005385, zinc ion transmembrane transporter activity, GO:0071577, zinc ion transmembrane transport, 149 176 146 147 152 187 144 134 99 ENSG00000152684 chr5 52787940 52804046 + PELO protein_coding This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]. 53918 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0005515, GO:0004519, metal ion binding, protein binding, endonuclease activity, GO:0090305, GO:0071025, GO:0070966, GO:0070651, GO:0070481, GO:0060231, GO:0051301, GO:0051276, GO:0032790, GO:0030513, GO:0019827, GO:0007492, GO:0007049, GO:0001833, nucleic acid phosphodiester bond hydrolysis, RNA surveillance, nuclear-transcribed mRNA catabolic process, no-go decay, nonfunctional rRNA decay, nuclear-transcribed mRNA catabolic process, non-stop decay, mesenchymal to epithelial transition, cell division, chromosome organization, ribosome disassembly, positive regulation of BMP signaling pathway, stem cell population maintenance, endoderm development, cell cycle, inner cell mass cell proliferation, 630 433 558 47 57 75 62 59 49 ENSG00000152689 chr2 33436324 33564750 + RASGRP3 protein_coding The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017]. 25780 GO:0048471, GO:0032045, GO:0005887, GO:0005886, perinuclear region of cytoplasm, guanyl-nucleotide exchange factor complex, integral component of plasma membrane, plasma membrane, GO:0019992, GO:0019900, GO:0005515, GO:0005509, GO:0005096, GO:0005085, GO:0005085, diacylglycerol binding, kinase binding, protein binding, calcium ion binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0043547, GO:0007265, GO:0007264, GO:0000165, GO:0000165, positive regulation of GTPase activity, Ras protein signal transduction, small GTPase mediated signal transduction, MAPK cascade, MAPK cascade, 6 8 15 8 17 5 15 8 22 ENSG00000152700 chr5 134601144 134649271 - SAR1B protein_coding The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]. 51128 GO:0070971, GO:0032580, GO:0030127, GO:0012507, GO:0005829, GO:0005789, endoplasmic reticulum exit site, Golgi cisterna membrane, COPII vesicle coat, ER to Golgi transport vesicle membrane, cytosol, endoplasmic reticulum membrane, GO:0046872, GO:0005525, GO:0005515, GO:0003924, GO:0003924, metal ion binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0070863, GO:0061024, GO:0048208, GO:0019886, GO:0016050, GO:0006888, GO:0006888, GO:0006886, GO:0003400, GO:0002474, positive regulation of protein exit from endoplasmic reticulum, membrane organization, COPII vesicle coating, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle organization, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, regulation of COPII vesicle coating, antigen processing and presentation of peptide antigen via MHC class I, 148 156 229 104 113 134 100 123 154 ENSG00000152705 chr5 134967906 135011707 + CATSPER3 protein_coding 347732 GO:0036128, GO:0036128, GO:0031514, GO:0005886, GO:0005783, GO:0001669, CatSper complex, CatSper complex, motile cilium, plasma membrane, endoplasmic reticulum, acrosomal vesicle, GO:0005245, voltage-gated calcium channel activity, GO:0070588, GO:0048240, GO:0035036, GO:0034765, GO:0032570, GO:0030317, GO:0007275, GO:0006814, calcium ion transmembrane transport, sperm capacitation, sperm-egg recognition, regulation of ion transmembrane transport, response to progesterone, flagellated sperm motility, multicellular organism development, sodium ion transport, 1 2 0 0 2 3 0 1 0 ENSG00000152749 chr13 94601903 94634645 + GPR180 protein_coding This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008]. 160897 GO:0016021, integral component of membrane, GO:0019236, GO:0007186, response to pheromone, G protein-coupled receptor signaling pathway, 1 1 14 27 1 10 19 1 17 ENSG00000152760 chr1 66752459 66778787 + TCTEX1D1 protein_coding 200132 GO:0005515, protein binding, 0 2 1 2 0 7 2 0 7 ENSG00000152763 chr1 66812885 66924887 - WDR78 protein_coding 79819 GO:0031514, GO:0005930, GO:0005858, GO:0005858, motile cilium, axoneme, axonemal dynein complex, axonemal dynein complex, GO:0045504, GO:0045503, dynein heavy chain binding, dynein light chain binding, GO:0070286, GO:0007018, GO:0003341, GO:0003341, GO:0002244, axonemal dynein complex assembly, microtubule-based movement, cilium movement, cilium movement, hematopoietic progenitor cell differentiation, 3 0 6 2 9 0 1 3 0 ENSG00000152766 chr10 88822132 88851818 - ANKRD22 protein_coding 118932 34 15 90 4 10 25 8 8 10 ENSG00000152767 chr13 98142562 98455176 + FARP1 protein_coding This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 10160 GO:0043197, GO:0031234, GO:0030425, GO:0030175, GO:0005856, GO:0005829, dendritic spine, extrinsic component of cytoplasmic side of plasma membrane, dendrite, filopodium, cytoskeleton, cytosol, GO:0008092, GO:0005515, GO:0005085, GO:0005085, GO:0005085, cytoskeletal protein binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0048813, GO:0010923, GO:0007416, dendrite morphogenesis, negative regulation of phosphatase activity, synapse assembly, 414 774 634 408 1143 634 410 835 522 ENSG00000152778 chr10 89414586 89421001 + IFIT5 protein_coding 24138 GO:0045177, GO:0032587, GO:0015629, GO:0008385, GO:0005886, GO:0005829, apical part of cell, ruffle membrane, actin cytoskeleton, IkappaB kinase complex, plasma membrane, cytosol, GO:0008266, GO:0005515, GO:0003727, GO:0003723, GO:0003723, GO:0003723, GO:0003690, GO:0000339, GO:0000049, poly(U) RNA binding, protein binding, single-stranded RNA binding, RNA binding, RNA binding, RNA binding, double-stranded DNA binding, RNA cap binding, tRNA binding, GO:0051607, GO:0051607, GO:0045087, GO:0045071, GO:0043123, defense response to virus, defense response to virus, innate immune response, negative regulation of viral genome replication, positive regulation of I-kappaB kinase/NF-kappaB signaling, 491 275 393 96 141 166 141 132 113 ENSG00000152779 chr10 89430299 89556641 - SLC16A12 protein_coding This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]. 387700 GO:0016323, GO:0016021, GO:0005887, GO:0005887, GO:0005886, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0015293, GO:0008028, GO:0005515, GO:0005308, symporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, creatine transmembrane transporter activity, GO:0150104, GO:0015881, GO:0015718, transport across blood-brain barrier, creatine transmembrane transport, monocarboxylic acid transport, 1 0 0 0 0 0 0 0 0 ENSG00000152782 chr10 89579497 89645572 - PANK1 protein_coding This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]. 53354 GO:0071944, GO:0005829, GO:0005829, GO:0005634, cell periphery, cytosol, cytosol, nucleus, GO:1905502, GO:0042803, GO:0005524, GO:0004594, acetyl-CoA binding, protein homodimerization activity, ATP binding, pantothenate kinase activity, GO:0016310, GO:0015937, GO:0015937, phosphorylation, coenzyme A biosynthetic process, coenzyme A biosynthetic process, 0 0 1 4 1 4 0 0 0 ENSG00000152784 chr4 80183879 80204329 + PRDM8 protein_coding This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 56978 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0008168, GO:0005515, GO:0003677, metal ion binding, methyltransferase activity, protein binding, DNA binding, GO:0032259, GO:0014003, GO:0006355, methylation, oligodendrocyte development, regulation of transcription, DNA-templated, 173 162 178 212 130 124 172 97 105 ENSG00000152785 chr4 81030965 81057531 + BMP3 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]. 651 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0070700, GO:0008083, GO:0005125, GO:0005102, BMP receptor binding, growth factor activity, cytokine activity, signaling receptor binding, GO:0060395, GO:0051216, GO:0010862, GO:0007267, GO:0001649, GO:0001501, SMAD protein signal transduction, cartilage development, positive regulation of pathway-restricted SMAD protein phosphorylation, cell-cell signaling, osteoblast differentiation, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000152795 chr4 82422564 82430408 - HNRNPDL protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]. 9987 GO:0005829, GO:0005654, GO:0005654, GO:0000785, cytosol, nucleoplasm, nucleoplasm, chromatin, GO:0034046, GO:0008143, GO:0005515, GO:0003723, GO:0003723, poly(G) binding, poly(A) binding, protein binding, RNA binding, RNA binding, GO:0035722, GO:0010468, interleukin-12-mediated signaling pathway, regulation of gene expression, 1204 1076 1588 2024 1789 2076 1687 1213 1494 ENSG00000152804 chr10 92689951 92695646 + HHEX protein_coding This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008]. 3087 GO:0032993, GO:0005737, GO:0005634, GO:0000785, GO:0000785, protein-DNA complex, cytoplasm, nucleus, chromatin, chromatin, GO:0070491, GO:0043565, GO:0042803, GO:0017025, GO:0008301, GO:0008190, GO:0008134, GO:0005515, GO:0003713, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, GO:0000976, repressing transcription factor binding, sequence-specific DNA binding, protein homodimerization activity, TBP-class protein binding, DNA binding, bending, eukaryotic initiation factor 4E binding, transcription factor binding, protein binding, transcription coactivator activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0090263, GO:0071103, GO:0070663, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045736, GO:0043434, GO:0034504, GO:0030948, GO:0030183, GO:0030177, GO:0030154, GO:0030154, GO:0016973, GO:0016525, GO:0016055, GO:0010944, GO:0010621, GO:0009952, GO:0009611, GO:0006406, GO:0006357, GO:0000122, positive regulation of canonical Wnt signaling pathway, DNA conformation change, regulation of leukocyte proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, response to peptide hormone, protein localization to nucleus, negative regulation of vascular endothelial growth factor receptor signaling pathway, B cell differentiation, positive regulation of Wnt signaling pathway, cell differentiation, cell differentiation, poly(A)+ mRNA export from nucleus, negative regulation of angiogenesis, Wnt signaling pathway, negative regulation of transcription by competitive promoter binding, negative regulation of transcription by transcription factor localization, anterior/posterior pattern specification, response to wounding, mRNA export from nucleus, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 118 117 210 57 149 124 46 115 104 ENSG00000152818 chr6 144285701 144853034 + UTRN protein_coding This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]. 7402 GO:0070938, GO:0070062, GO:0045211, GO:0042383, GO:0032991, GO:0031594, GO:0031527, GO:0030175, GO:0016020, GO:0016010, GO:0005886, GO:0005856, GO:0005737, GO:0005654, contractile ring, extracellular exosome, postsynaptic membrane, sarcolemma, protein-containing complex, neuromuscular junction, filopodium membrane, filopodium, membrane, dystrophin-associated glycoprotein complex, plasma membrane, cytoskeleton, cytoplasm, nucleoplasm, GO:0019901, GO:0017166, GO:0008270, GO:0005515, GO:0005178, GO:0003779, protein kinase binding, vinculin binding, zinc ion binding, protein binding, integrin binding, actin binding, GO:2000649, GO:0007517, GO:0006936, GO:0001954, regulation of sodium ion transmembrane transporter activity, muscle organ development, muscle contraction, positive regulation of cell-matrix adhesion, 1906 1737 2824 1147 1017 1557 1326 822 1354 ENSG00000152822 chr6 146027646 146437598 + GRM1 protein_coding This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]. 2911 GO:0098978, GO:0098839, GO:0098685, GO:0038038, GO:0038037, GO:0030425, GO:0005887, GO:0005887, GO:0005886, GO:0005634, glutamatergic synapse, postsynaptic density membrane, Schaffer collateral - CA1 synapse, G protein-coupled receptor homodimeric complex, G protein-coupled receptor dimeric complex, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, nucleus, GO:0099583, GO:0099530, GO:0098872, GO:0008066, GO:0008066, GO:0008066, GO:0005515, GO:0004930, neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration, G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential, G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration, glutamate receptor activity, glutamate receptor activity, glutamate receptor activity, protein binding, G protein-coupled receptor activity, GO:0099566, GO:0071257, GO:0060078, GO:0051966, GO:0051930, GO:0051482, GO:0019233, GO:0007626, GO:0007268, GO:0007216, GO:0007216, GO:0007186, GO:0007186, GO:0007186, GO:0000187, GO:0000186, regulation of postsynaptic cytosolic calcium ion concentration, cellular response to electrical stimulus, regulation of postsynaptic membrane potential, regulation of synaptic transmission, glutamatergic, regulation of sensory perception of pain, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, sensory perception of pain, locomotory behavior, chemical synaptic transmission, G protein-coupled glutamate receptor signaling pathway, G protein-coupled glutamate receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, activation of MAPK activity, activation of MAPKK activity, 0 0 0 0 0 0 0 0 0 ENSG00000152894 chr6 127968779 128520674 - PTPRK protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]. 5796 GO:0043231, GO:0043025, GO:0031256, GO:0030425, GO:0030424, GO:0030054, GO:0016021, GO:0009986, GO:0005912, GO:0005911, GO:0005887, GO:0005886, GO:0001750, intracellular membrane-bounded organelle, neuronal cell body, leading edge membrane, dendrite, axon, cell junction, integral component of membrane, cell surface, adherens junction, cell-cell junction, integral component of plasma membrane, plasma membrane, photoreceptor outer segment, GO:0045295, GO:0019901, GO:0008013, GO:0005515, GO:0005001, GO:0004725, GO:0004725, gamma-catenin binding, protein kinase binding, beta-catenin binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0048041, GO:0045892, GO:0045786, GO:0035335, GO:0034644, GO:0034614, GO:0034394, GO:0031175, GO:0030336, GO:0030217, GO:0016477, GO:0010839, GO:0008285, GO:0007179, GO:0007165, GO:0007155, GO:0006470, GO:0006470, focal adhesion assembly, negative regulation of transcription, DNA-templated, negative regulation of cell cycle, peptidyl-tyrosine dephosphorylation, cellular response to UV, cellular response to reactive oxygen species, protein localization to cell surface, neuron projection development, negative regulation of cell migration, T cell differentiation, cell migration, negative regulation of keratinocyte proliferation, negative regulation of cell population proliferation, transforming growth factor beta receptor signaling pathway, signal transduction, cell adhesion, protein dephosphorylation, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000152904 chr1 235327350 235344532 + GGPS1 protein_coding This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]. 9453 GO:0005829, cytosol, GO:0046872, GO:0042802, GO:0005515, GO:0004659, GO:0004337, GO:0004311, GO:0004161, metal ion binding, identical protein binding, protein binding, prenyltransferase activity, geranyltranstransferase activity, farnesyltranstransferase activity, dimethylallyltranstransferase activity, GO:0045540, GO:0045337, GO:0033386, GO:0033384, GO:0008299, GO:0006720, GO:0006695, regulation of cholesterol biosynthetic process, farnesyl diphosphate biosynthetic process, geranylgeranyl diphosphate biosynthetic process, geranyl diphosphate biosynthetic process, isoprenoid biosynthetic process, isoprenoid metabolic process, cholesterol biosynthetic process, 59 56 71 45 36 64 40 49 49 ENSG00000152910 chr16 76277278 76559238 + CNTNAP4 protein_coding This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]. 85445 GO:0042995, GO:0042734, GO:0016021, cell projection, presynaptic membrane, integral component of membrane, GO:2000821, GO:0032228, GO:0032225, GO:0007155, regulation of grooming behavior, regulation of synaptic transmission, GABAergic, regulation of synaptic transmission, dopaminergic, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000152926 chr7 64971776 65006684 - ZNF117 protein_coding This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding the zinc finger protein. [provided by RefSeq, Jan 2017]. 51351 GO:0000785, chromatin, GO:0008270, GO:0003700, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 922 3190 3786 955 5008 4496 1157 3250 3683 ENSG00000152931 chr5 60487713 60547657 + PART1 lincRNA This gene is induced by androgen in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this gene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009]. 25859 0 0 0 0 0 0 0 0 0 ENSG00000152932 chr5 58582221 58859394 + RAB3C protein_coding This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 115827 GO:0098993, GO:0048471, GO:0031982, GO:0008021, GO:0005886, GO:0005829, GO:0005768, anchored component of synaptic vesicle membrane, perinuclear region of cytoplasm, vesicle, synaptic vesicle, plasma membrane, cytosol, endosome, GO:0031489, GO:0030742, GO:0005525, GO:0005515, GO:0003924, myosin V binding, GTP-dependent protein binding, GTP binding, protein binding, GTPase activity, GO:0072659, GO:0019882, GO:0017157, GO:0009306, GO:0006904, protein localization to plasma membrane, antigen processing and presentation, regulation of exocytosis, protein secretion, vesicle docking involved in exocytosis, 2 4 4 0 0 0 1 1 0 ENSG00000152936 chr12 25409307 25648579 - LMNTD1 protein_coding 160492 GO:0005882, GO:0005737, GO:0005635, intermediate filament, cytoplasm, nuclear envelope, GO:0008283, cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000152939 chr5 69415065 69444330 + MARVELD2 protein_coding The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 153562 GO:0061689, GO:0043220, GO:0033010, GO:0031410, GO:0030054, GO:0016324, GO:0016323, GO:0016021, GO:0005923, GO:0005737, tricellular tight junction, Schmidt-Lanterman incisure, paranodal junction, cytoplasmic vesicle, cell junction, apical plasma membrane, basolateral plasma membrane, integral component of membrane, bicellular tight junction, cytoplasm, GO:0005515, protein binding, GO:0070830, GO:0061028, GO:0045216, GO:0007605, bicellular tight junction assembly, establishment of endothelial barrier, cell-cell junction organization, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000152942 chr5 69369293 69414801 + RAD17 protein_coding The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]. 5884 GO:0031389, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000781, Rad17 RFC-like complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, chromosome, telomeric region, GO:0005524, GO:0005515, GO:0003689, GO:0003682, ATP binding, protein binding, DNA clamp loader activity, chromatin binding, GO:1901796, GO:0042325, GO:0033314, GO:0008156, GO:0007093, GO:0006974, GO:0006281, GO:0006260, GO:0000077, GO:0000077, GO:0000076, regulation of signal transduction by p53 class mediator, regulation of phosphorylation, mitotic DNA replication checkpoint, negative regulation of DNA replication, mitotic cell cycle checkpoint, cellular response to DNA damage stimulus, DNA repair, DNA replication, DNA damage checkpoint, DNA damage checkpoint, DNA replication checkpoint, 8 5 10 17 3 1 15 8 5 ENSG00000152944 chr12 27022546 27066343 + MED21 protein_coding This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 9412 GO:0016592, GO:0016592, GO:0000151, mediator complex, mediator complex, ubiquitin ligase complex, GO:0061630, GO:0005515, GO:0003899, GO:0003713, GO:0003712, ubiquitin protein ligase activity, protein binding, DNA-directed 5'-3' RNA polymerase activity, transcription coactivator activity, transcription coregulator activity, GO:0045944, GO:0032774, GO:0019827, GO:0016567, GO:0006357, GO:0001824, positive regulation of transcription by RNA polymerase II, RNA biosynthetic process, stem cell population maintenance, protein ubiquitination, regulation of transcription by RNA polymerase II, blastocyst development, 329 304 333 108 182 242 217 123 175 ENSG00000152952 chr3 146069440 146163653 - PLOD2 protein_coding The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 5352 GO:0070062, GO:0030867, GO:0005789, GO:0005783, extracellular exosome, rough endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0033823, GO:0031418, GO:0008475, GO:0008475, GO:0008475, GO:0005506, procollagen glucosyltransferase activity, L-ascorbic acid binding, procollagen-lysine 5-dioxygenase activity, procollagen-lysine 5-dioxygenase activity, procollagen-lysine 5-dioxygenase activity, iron ion binding, GO:0055114, GO:0046947, GO:0017185, GO:0017185, GO:0017185, GO:0006493, GO:0006464, GO:0001666, oxidation-reduction process, hydroxylysine biosynthetic process, peptidyl-lysine hydroxylation, peptidyl-lysine hydroxylation, peptidyl-lysine hydroxylation, protein O-linked glycosylation, cellular protein modification process, response to hypoxia, 0 1 0 0 0 0 0 0 0 ENSG00000152953 chr4 5051442 5500998 + STK32B protein_coding This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 55351 GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein serine/threonine kinase activity, GO:0035556, GO:0018105, intracellular signal transduction, peptidyl-serine phosphorylation, 0 0 3 0 0 0 4 0 0 ENSG00000152954 chr6 24126122 24154900 + NRSN1 protein_coding 140767 GO:0043025, GO:0043025, GO:0043005, GO:0043005, GO:0031410, GO:0030426, GO:0030133, GO:0030133, GO:0016021, neuronal cell body, neuronal cell body, neuron projection, neuron projection, cytoplasmic vesicle, growth cone, transport vesicle, transport vesicle, integral component of membrane, GO:0005515, protein binding, GO:0007399, GO:0007399, nervous system development, nervous system development, 0 0 0 1 0 0 0 0 0 ENSG00000152969 chr4 6026203 6200591 - JAKMIP1 protein_coding 152789 GO:1990904, GO:0019898, GO:0005874, GO:0005737, ribonucleoprotein complex, extrinsic component of membrane, microtubule, cytoplasm, GO:0050811, GO:0019900, GO:0019894, GO:0008017, GO:0005515, GO:0003723, GABA receptor binding, kinase binding, kinesin binding, microtubule binding, protein binding, RNA binding, GO:0050890, GO:0015031, cognition, protein transport, 2 0 2 3 0 7 3 3 0 ENSG00000152977 chr3 147393422 147510293 + ZIC1 protein_coding This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]. 7545 GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0003700, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045893, GO:0042472, GO:0042307, GO:0030154, GO:0021510, GO:0008589, GO:0007628, GO:0007420, GO:0007417, GO:0007389, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, inner ear morphogenesis, positive regulation of protein import into nucleus, cell differentiation, spinal cord development, regulation of smoothened signaling pathway, adult walking behavior, brain development, central nervous system development, pattern specification process, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000152990 chr4 22345071 22516054 - ADGRA3 protein_coding This gene encodes a member of the G protein-coupled receptor superfamily. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012]. 166647 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, GO:0007166, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 1 2 4 7 1 0 3 3 2 ENSG00000153002 chr3 148791102 148860187 + CPB1 protein_coding Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008]. 1360 GO:0005615, extracellular space, GO:0008270, GO:0005515, GO:0004181, GO:0004180, zinc ion binding, protein binding, metallocarboxypeptidase activity, carboxypeptidase activity, GO:0006508, GO:0006508, proteolysis, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000153006 chr5 64718144 64768685 - SREK1IP1 protein_coding 285672 GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 111 65 90 93 94 127 81 53 95 ENSG00000153012 chr4 24998847 25030879 - LGI2 protein_coding 55203 GO:0005576, extracellular region, GO:1904862, inhibitory synapse assembly, 3 0 0 0 0 2 1 0 0 ENSG00000153015 chr5 64768930 65018763 + CWC27 protein_coding 10283 GO:0071013, GO:0071005, GO:0005654, GO:0005654, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, nucleoplasm, nucleoplasm, GO:0016018, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, GO:0000398, GO:0000398, protein folding, protein peptidyl-prolyl isomerization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 27 28 35 31 41 89 43 34 57 ENSG00000153029 chr1 181033425 181061938 + MR1 protein_coding MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]. 3140 GO:0042612, GO:0031902, GO:0031901, GO:0016021, GO:0009897, GO:0005886, GO:0005789, GO:0005783, GO:0005615, GO:0000139, MHC class I protein complex, late endosome membrane, early endosome membrane, integral component of membrane, external side of plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, extracellular space, Golgi membrane, GO:0042608, GO:0032393, GO:0030881, GO:0005515, T cell receptor binding, MHC class I receptor activity, beta-2-microglobulin binding, protein binding, GO:0050830, GO:0050829, GO:0045087, GO:0033077, GO:0032620, GO:0032611, GO:0019884, GO:0006955, GO:0006955, GO:0002854, GO:0002474, GO:0002367, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, T cell differentiation in thymus, interleukin-17 production, interleukin-1 beta production, antigen processing and presentation of exogenous antigen, immune response, immune response, positive regulation of T cell mediated cytotoxicity directed against tumor cell target, antigen processing and presentation of peptide antigen via MHC class I, cytokine production involved in immune response, 696 573 799 330 372 414 359 286 353 ENSG00000153037 chr5 112861188 112898371 + SRP19 protein_coding 6728 GO:0048500, GO:0005829, GO:0005786, GO:0005786, GO:0005730, signal recognition particle, cytosol, signal recognition particle, endoplasmic reticulum targeting, signal recognition particle, endoplasmic reticulum targeting, nucleolus, GO:0043022, GO:0008312, GO:0008312, GO:0005515, GO:0003723, ribosome binding, 7S RNA binding, 7S RNA binding, protein binding, RNA binding, GO:0006617, GO:0006614, GO:0006613, SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition, SRP-dependent cotranslational protein targeting to membrane, cotranslational protein targeting to membrane, 72 69 78 75 79 96 86 52 82 ENSG00000153044 chr5 69189548 69210357 + CENPH protein_coding Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]. 64946 GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000777, GO:0000776, GO:0000776, GO:0000776, GO:0000776, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, condensed chromosome kinetochore, kinetochore, kinetochore, kinetochore, kinetochore, GO:0043515, GO:0043515, GO:0005515, kinetochore binding, kinetochore binding, protein binding, GO:0051383, GO:0051382, GO:0034080, GO:0007059, GO:0007052, kinetochore organization, kinetochore assembly, CENP-A containing nucleosome assembly, chromosome segregation, mitotic spindle organization, 5 2 2 21 5 11 15 4 11 ENSG00000153046 chr6 4706159 4955551 + CDYL protein_coding Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]. 9425 GO:0016607, GO:0005737, GO:0005694, GO:0005634, GO:0005634, nuclear speck, cytoplasm, chromosome, nucleus, nucleus, GO:0120092, GO:0035064, GO:0035064, GO:0030674, GO:0005515, GO:0003714, GO:0003714, GO:0003682, crotonyl-CoA hydratase activity, methylated histone binding, methylated histone binding, protein-macromolecule adaptor activity, protein binding, transcription corepressor activity, transcription corepressor activity, chromatin binding, GO:1903507, GO:0120094, GO:0060816, GO:0007286, GO:0007283, negative regulation of nucleic acid-templated transcription, negative regulation of peptidyl-lysine crotonylation, random inactivation of X chromosome, spermatid development, spermatogenesis, 64 50 113 52 40 82 47 30 62 ENSG00000153048 chr16 8852942 8869012 - CARHSP1 protein_coding 23589 GO:0043186, GO:0005829, GO:0005737, GO:0000932, GO:0000177, P granule, cytosol, cytoplasm, P-body, cytoplasmic exosome (RNase complex), GO:0019902, GO:0005515, GO:0003730, GO:0003730, phosphatase binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, GO:0043488, GO:0043488, GO:0035556, regulation of mRNA stability, regulation of mRNA stability, intracellular signal transduction, 314 319 359 193 306 343 275 253 268 ENSG00000153060 chr16 10627501 10694945 - TEKT5 protein_coding 146279 GO:0036126, GO:0015630, GO:0005634, sperm flagellum, microtubule cytoskeleton, nucleus, GO:0005515, protein binding, GO:0060294, GO:0060271, cilium movement involved in cell motility, cilium assembly, 0 1 0 0 0 0 0 0 0 ENSG00000153064 chr4 101411286 102074812 + BANK1 protein_coding The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 55024 GO:1990782, GO:1990782, GO:0005102, GO:0005102, protein tyrosine kinase binding, protein tyrosine kinase binding, signaling receptor binding, signaling receptor binding, GO:0051898, GO:0050869, GO:0050731, GO:0045947, GO:0043410, GO:0042113, GO:0042113, GO:0032715, GO:0009617, negative regulation of protein kinase B signaling, negative regulation of B cell activation, positive regulation of peptidyl-tyrosine phosphorylation, negative regulation of translational initiation, positive regulation of MAPK cascade, B cell activation, B cell activation, negative regulation of interleukin-6 production, response to bacterium, 23 42 44 46 68 24 51 64 28 ENSG00000153066 chr16 11679080 11742878 - TXNDC11 protein_coding 51061 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, 1301 980 1441 478 410 643 496 305 581 ENSG00000153071 chr5 39371675 39462300 - DAB2 protein_coding This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 1601 GO:0043231, GO:0030665, GO:0030136, GO:0005925, GO:0005905, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005765, GO:0005737, GO:0001650, intracellular membrane-bounded organelle, clathrin-coated vesicle membrane, clathrin-coated vesicle, focal adhesion, clathrin-coated pit, plasma membrane, plasma membrane, plasma membrane, cytosol, lysosomal membrane, cytoplasm, fibrillar center, GO:0046332, GO:0038024, GO:0035615, GO:0008022, GO:0005515, SMAD binding, cargo receptor activity, clathrin adaptor activity, protein C-terminus binding, protein binding, GO:2000643, GO:2000370, GO:2000096, GO:1903077, GO:0090090, GO:0090090, GO:0090090, GO:0061024, GO:0060766, GO:0060391, GO:0045944, GO:0045807, GO:0045807, GO:0043066, GO:0035026, GO:0032436, GO:0032091, GO:0030511, GO:0030335, GO:0016055, GO:0015031, GO:0010862, GO:0010718, GO:0007275, GO:0007229, GO:0006915, GO:0006898, GO:0001934, GO:0000122, positive regulation of early endosome to late endosome transport, positive regulation of clathrin-dependent endocytosis, positive regulation of Wnt signaling pathway, planar cell polarity pathway, negative regulation of protein localization to plasma membrane, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, membrane organization, negative regulation of androgen receptor signaling pathway, positive regulation of SMAD protein signal transduction, positive regulation of transcription by RNA polymerase II, positive regulation of endocytosis, positive regulation of endocytosis, negative regulation of apoptotic process, leading edge cell differentiation, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein binding, positive regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, Wnt signaling pathway, protein transport, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial to mesenchymal transition, multicellular organism development, integrin-mediated signaling pathway, apoptotic process, receptor-mediated endocytosis, positive regulation of protein phosphorylation, negative regulation of transcription by RNA polymerase II, 3 6 6 6 7 18 5 6 4 ENSG00000153086 chr2 134838547 134902034 + ACMSD protein_coding The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]. 130013 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0016831, GO:0016787, GO:0008270, GO:0005515, GO:0001760, carboxy-lyase activity, hydrolase activity, zinc ion binding, protein binding, aminocarboxymuconate-semialdehyde decarboxylase activity, GO:1905012, GO:1905004, GO:1904985, GO:0019748, GO:0006569, regulation of 'de novo' NAD biosynthetic process from tryptophan, picolinic acid biosynthetic process, negative regulation of quinolinate biosynthetic process, secondary metabolic process, tryptophan catabolic process, 9 1 5 2 2 6 4 6 0 ENSG00000153093 chr2 110732573 111118222 + ACOXL protein_coding 55289 GO:0005782, GO:0005777, GO:0005575, peroxisomal matrix, peroxisome, cellular_component, GO:0050660, GO:0005504, GO:0003997, GO:0003674, flavin adenine dinucleotide binding, fatty acid binding, acyl-CoA oxidase activity, molecular_function, GO:0055088, GO:0033540, GO:0033540, GO:0008150, lipid homeostasis, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, biological_process, 9 2 13 5 1 19 6 6 13 ENSG00000153094 chr2 111119378 111168447 + BCL2L11 protein_coding The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]. 10018 GO:0097136, GO:0019898, GO:0012505, GO:0005829, GO:0005741, GO:0005739, Bcl-2 family protein complex, extrinsic component of membrane, endomembrane system, cytosol, mitochondrial outer membrane, mitochondrion, GO:0019901, GO:0008017, GO:0005515, protein kinase binding, microtubule binding, protein binding, GO:2001244, GO:2000271, GO:1904646, GO:1903896, GO:1902263, GO:1902237, GO:0097192, GO:0090200, GO:0090200, GO:0071392, GO:0071385, GO:0070242, GO:0060139, GO:0048563, GO:0048538, GO:0048536, GO:0048070, GO:0048066, GO:0046620, GO:0045787, GO:0043583, GO:0043525, GO:0043280, GO:0043065, GO:0043065, GO:0043029, GO:0042981, GO:0042475, GO:0035148, GO:0034976, GO:0034263, GO:0031334, GO:0031334, GO:0030879, GO:0008630, GO:0008584, GO:0007420, GO:0007283, GO:0007160, GO:0007127, GO:0006915, GO:0002262, GO:0001844, GO:0001822, GO:0001783, GO:0001782, GO:0001701, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of fibroblast apoptotic process, cellular response to amyloid-beta, positive regulation of IRE1-mediated unfolded protein response, apoptotic process involved in embryonic digit morphogenesis, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of release of cytochrome c from mitochondria, positive regulation of release of cytochrome c from mitochondria, cellular response to estradiol stimulus, cellular response to glucocorticoid stimulus, thymocyte apoptotic process, positive regulation of apoptotic process by virus, post-embryonic animal organ morphogenesis, thymus development, spleen development, regulation of developmental pigmentation, developmental pigmentation, regulation of organ growth, positive regulation of cell cycle, ear development, positive regulation of neuron apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, T cell homeostasis, regulation of apoptotic process, odontogenesis of dentin-containing tooth, tube formation, response to endoplasmic reticulum stress, positive regulation of autophagy in response to ER overload, positive regulation of protein-containing complex assembly, positive regulation of protein-containing complex assembly, mammary gland development, intrinsic apoptotic signaling pathway in response to DNA damage, male gonad development, brain development, spermatogenesis, cell-matrix adhesion, meiosis I, apoptotic process, myeloid cell homeostasis, protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, kidney development, B cell apoptotic process, B cell homeostasis, in utero embryonic development, 493 440 747 289 377 453 299 347 343 ENSG00000153107 chr2 111611639 111884690 - ANAPC1 protein_coding This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]. 64682 GO:0005829, GO:0005680, GO:0005680, GO:0005654, cytosol, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, GO:0061630, GO:0060090, ubiquitin protein ligase activity, molecular adaptor activity, GO:1901990, GO:0070979, GO:0070979, GO:0051301, GO:0031145, GO:0031145, GO:0007091, GO:0006511, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, protein K11-linked ubiquitination, cell division, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, metaphase/anaphase transition of mitotic cell cycle, ubiquitin-dependent protein catabolic process, 57 62 97 144 101 172 117 78 148 ENSG00000153113 chr5 96525267 96779595 + CAST protein_coding The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]. 831 GO:0016020, GO:0005829, GO:0005829, GO:0005783, GO:0005737, membrane, cytosol, cytosol, endoplasmic reticulum, cytoplasm, GO:0045296, GO:0010859, GO:0010859, GO:0005515, GO:0004866, GO:0003723, cadherin binding, calcium-dependent cysteine-type endopeptidase inhibitor activity, calcium-dependent cysteine-type endopeptidase inhibitor activity, protein binding, endopeptidase inhibitor activity, RNA binding, GO:2000675, GO:1990709, GO:0097340, GO:0097340, negative regulation of type B pancreatic cell apoptotic process, presynaptic active zone organization, inhibition of cysteine-type endopeptidase activity, inhibition of cysteine-type endopeptidase activity, 912 1170 1237 858 1046 1138 827 841 997 ENSG00000153130 chr4 140257286 140385726 + SCOC protein_coding This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 60592 GO:0005829, GO:0005802, GO:0005802, GO:0005794, GO:0005768, GO:0005654, GO:0000139, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, endosome, nucleoplasm, Golgi membrane, GO:0005515, protein binding, GO:0061635, GO:0016239, regulation of protein complex stability, positive regulation of macroautophagy, 44 24 26 39 38 70 33 38 36 ENSG00000153132 chr4 140388455 140427968 - CLGN protein_coding Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008]. 1047 GO:0016021, GO:0005789, GO:0005783, GO:0005635, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear envelope, GO:0051082, GO:0044183, GO:0005509, unfolded protein binding, protein folding chaperone, calcium ion binding, GO:0065003, GO:0030968, GO:0007339, GO:0007338, GO:0006457, protein-containing complex assembly, endoplasmic reticulum unfolded protein response, binding of sperm to zona pellucida, single fertilization, protein folding, 4 0 1 0 0 0 2 0 0 ENSG00000153140 chr5 90392261 90409786 - CETN3 protein_coding The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 1070 GO:0070390, GO:0044615, GO:0005815, GO:0005814, GO:0005813, GO:0005737, GO:0005730, transcription export complex 2, nuclear pore nuclear basket, microtubule organizing center, centriole, centrosome, cytoplasm, nucleolus, GO:0008017, GO:0005515, GO:0005509, microtubule binding, protein binding, calcium ion binding, GO:0051301, GO:0051028, GO:0015031, GO:0007098, cell division, mRNA transport, protein transport, centrosome cycle, 6 6 14 15 18 18 15 4 26 ENSG00000153147 chr4 143513463 143557486 + SMARCA5 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]. 8467 GO:0043596, GO:0031213, GO:0016589, GO:0005677, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000793, nuclear replication fork, RSF complex, NURF complex, chromatin silencing complex, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, condensed chromosome, GO:0042393, GO:0031491, GO:0016887, GO:0008094, GO:0005524, GO:0005515, GO:0004386, GO:0003677, GO:0003677, histone binding, nucleosome binding, ATPase activity, DNA-dependent ATPase activity, ATP binding, protein binding, helicase activity, DNA binding, DNA binding, GO:1990830, GO:0045944, GO:0045815, GO:0043044, GO:0043044, GO:0034080, GO:0016584, GO:0016584, GO:0006357, GO:0006352, GO:0006338, GO:0006334, GO:0000183, cellular response to leukemia inhibitory factor, positive regulation of transcription by RNA polymerase II, positive regulation of gene expression, epigenetic, ATP-dependent chromatin remodeling, ATP-dependent chromatin remodeling, CENP-A containing nucleosome assembly, nucleosome positioning, nucleosome positioning, regulation of transcription by RNA polymerase II, DNA-templated transcription, initiation, chromatin remodeling, nucleosome assembly, rDNA heterochromatin assembly, 2100 1846 2443 1048 1130 1327 973 793 905 ENSG00000153157 chr6 10886831 10979320 + SYCP2L protein_coding 221711 GO:0005654, GO:0000800, GO:0000779, GO:0000779, nucleoplasm, lateral element, condensed chromosome, centromeric region, condensed chromosome, centromeric region, GO:0140013, GO:0000080, meiotic nuclear division, mitotic G1 phase, 1 7 6 1 1 0 0 1 6 ENSG00000153162 chr6 7726797 7881422 + BMP6 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]. 654 GO:0031982, GO:0005737, GO:0005615, vesicle, cytoplasm, extracellular space, GO:0070700, GO:0070700, GO:0046982, GO:0008083, GO:0005125, BMP receptor binding, BMP receptor binding, protein heterodimerization activity, growth factor activity, cytokine activity, GO:2000860, GO:2000048, GO:1903392, GO:0071773, GO:0071281, GO:0071260, GO:0060586, GO:0060395, GO:0060395, GO:0060395, GO:0060391, GO:0051384, GO:0051216, GO:0050731, GO:0050714, GO:0050679, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045669, GO:0045666, GO:0045603, GO:0043117, GO:0032526, GO:0032349, GO:0032332, GO:0032026, GO:0031666, GO:0030539, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030501, GO:0014823, GO:0010862, GO:0010862, GO:0010862, GO:0010628, GO:0008284, GO:0006955, GO:0006954, GO:0006879, GO:0003323, GO:0001958, GO:0001938, GO:0001822, GO:0001654, GO:0001649, GO:0001501, GO:0000122, positive regulation of aldosterone secretion, negative regulation of cell-cell adhesion mediated by cadherin, negative regulation of adherens junction organization, cellular response to BMP stimulus, cellular response to iron ion, cellular response to mechanical stimulus, multicellular organismal iron ion homeostasis, SMAD protein signal transduction, SMAD protein signal transduction, SMAD protein signal transduction, positive regulation of SMAD protein signal transduction, response to glucocorticoid, cartilage development, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of protein secretion, positive regulation of epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of osteoblast differentiation, positive regulation of neuron differentiation, positive regulation of endothelial cell differentiation, positive regulation of vascular permeability, response to retinoic acid, positive regulation of aldosterone biosynthetic process, positive regulation of chondrocyte differentiation, response to magnesium ion, positive regulation of lipopolysaccharide-mediated signaling pathway, male genitalia development, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, response to activity, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of gene expression, positive regulation of cell population proliferation, immune response, inflammatory response, cellular iron ion homeostasis, type B pancreatic cell development, endochondral ossification, positive regulation of endothelial cell proliferation, kidney development, eye development, osteoblast differentiation, skeletal system development, negative regulation of transcription by RNA polymerase II, 38 81 101 10 44 39 13 34 20 ENSG00000153165 chr2 106391290 106468376 - RGPD3 protein_coding This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011]. 653489 GO:0005737, GO:0005643, cytoplasm, nuclear pore, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0043547, GO:0006607, positive regulation of GTPase activity, NLS-bearing protein import into nucleus, 8 7 13 6 1 20 3 2 5 ENSG00000153179 chr12 64507001 64697567 + RASSF3 protein_coding The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003]. 283349 GO:0005886, GO:0005874, GO:0005829, GO:0005737, plasma membrane, microtubule, cytosol, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0042981, GO:0007165, GO:0007165, regulation of apoptotic process, signal transduction, signal transduction, 5369 6141 6175 2207 4926 3932 2827 4354 3377 ENSG00000153187 chr1 244840638 244864560 - HNRNPU protein_coding This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]. 3192 GO:1990904, GO:1990498, GO:1990498, GO:1990023, GO:1990023, GO:0098577, GO:0098577, GO:0090575, GO:0090575, GO:0072686, GO:0071013, GO:0071013, GO:0070937, GO:0070937, GO:0036464, GO:0036464, GO:0032991, GO:0032839, GO:0030496, GO:0016607, GO:0016607, GO:0016363, GO:0016363, GO:0016020, GO:0009986, GO:0005813, GO:0005813, GO:0005697, GO:0005697, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000922, GO:0000777, GO:0000776, GO:0000776, GO:0000228, GO:0000228, ribonucleoprotein complex, mitotic spindle microtubule, mitotic spindle microtubule, mitotic spindle midzone, mitotic spindle midzone, inactive sex chromosome, inactive sex chromosome, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, mitotic spindle, catalytic step 2 spliceosome, catalytic step 2 spliceosome, CRD-mediated mRNA stability complex, CRD-mediated mRNA stability complex, cytoplasmic ribonucleoprotein granule, cytoplasmic ribonucleoprotein granule, protein-containing complex, dendrite cytoplasm, midbody, nuclear speck, nuclear speck, nuclear matrix, nuclear matrix, membrane, cell surface, centrosome, centrosome, telomerase holoenzyme complex, telomerase holoenzyme complex, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, spindle pole, condensed chromosome kinetochore, kinetochore, kinetochore, nuclear chromosome, nuclear chromosome, GO:1990841, GO:1990841, GO:1990837, GO:0099122, GO:0099122, GO:0070034, GO:0044877, GO:0043021, GO:0043021, GO:0042802, GO:0036002, GO:0036002, GO:0034046, GO:0034046, GO:0031490, GO:0017130, GO:0017130, GO:0017069, GO:0017069, GO:0008143, GO:0005524, GO:0005515, GO:0003779, GO:0003730, GO:0003727, GO:0003725, GO:0003723, GO:0003723, GO:0003723, GO:0003723, GO:0003714, GO:0003714, GO:0003697, GO:0003690, GO:0003682, GO:0003677, GO:0001097, GO:0001097, GO:0000993, GO:0000978, GO:0000978, promoter-specific chromatin binding, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, RNA polymerase II C-terminal domain binding, RNA polymerase II C-terminal domain binding, telomerase RNA binding, protein-containing complex binding, ribonucleoprotein complex binding, ribonucleoprotein complex binding, identical protein binding, pre-mRNA binding, pre-mRNA binding, poly(G) binding, poly(G) binding, chromatin DNA binding, poly(C) RNA binding, poly(C) RNA binding, snRNA binding, snRNA binding, poly(A) binding, ATP binding, protein binding, actin binding, mRNA 3'-UTR binding, single-stranded RNA binding, double-stranded RNA binding, RNA binding, RNA binding, RNA binding, RNA binding, transcription corepressor activity, transcription corepressor activity, single-stranded DNA binding, double-stranded DNA binding, chromatin binding, DNA binding, TFIIH-class transcription factor complex binding, TFIIH-class transcription factor complex binding, RNA polymerase II complex binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000737, GO:2000737, GO:2000648, GO:2000373, GO:1990845, GO:1990830, GO:1990280, GO:1990280, GO:1902889, GO:1902425, GO:1902425, GO:1902275, GO:1902275, GO:1901673, GO:1901673, GO:0098963, GO:0090336, GO:0071385, GO:0070934, GO:0070934, GO:0055013, GO:0051457, GO:0051301, GO:0048255, GO:0045944, GO:0045944, GO:0045944, GO:0034244, GO:0033673, GO:0032922, GO:0032211, GO:0032211, GO:0016070, GO:0016032, GO:0009048, GO:0007346, GO:0007049, GO:0006396, GO:0006325, GO:0001649, GO:0000398, GO:0000398, GO:0000381, GO:0000381, GO:0000122, GO:0000122, negative regulation of stem cell differentiation, negative regulation of stem cell differentiation, positive regulation of stem cell proliferation, positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity, adaptive thermogenesis, cellular response to leukemia inhibitory factor, RNA localization to chromatin, RNA localization to chromatin, protein localization to spindle microtubule, positive regulation of attachment of mitotic spindle microtubules to kinetochore, positive regulation of attachment of mitotic spindle microtubules to kinetochore, regulation of chromatin organization, regulation of chromatin organization, regulation of mitotic spindle assembly, regulation of mitotic spindle assembly, dendritic transport of messenger ribonucleoprotein complex, positive regulation of brown fat cell differentiation, cellular response to glucocorticoid stimulus, CRD-mediated mRNA stabilization, CRD-mediated mRNA stabilization, cardiac muscle cell development, maintenance of protein location in nucleus, cell division, mRNA stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription elongation from RNA polymerase II promoter, negative regulation of kinase activity, circadian regulation of gene expression, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, RNA metabolic process, viral process, dosage compensation by inactivation of X chromosome, regulation of mitotic cell cycle, cell cycle, RNA processing, chromatin organization, osteoblast differentiation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 10042 9410 12701 12593 13118 15953 14181 10020 12801 ENSG00000153201 chr2 108719481 108785811 + RANBP2 protein_coding RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008]. 5903 GO:1990723, GO:0044615, GO:0044614, GO:0043657, GO:0043231, GO:0042405, GO:0031965, GO:0016020, GO:0005829, GO:0005739, GO:0005737, GO:0005643, GO:0005643, GO:0005642, GO:0005635, GO:0005635, cytoplasmic periphery of the nuclear pore complex, nuclear pore nuclear basket, nuclear pore cytoplasmic filaments, host cell, intracellular membrane-bounded organelle, nuclear inclusion body, nuclear membrane, membrane, cytosol, mitochondrion, cytoplasm, nuclear pore, nuclear pore, annulate lamellae, nuclear envelope, nuclear envelope, GO:0046872, GO:0044877, GO:0031267, GO:0031267, GO:0019789, GO:0016018, GO:0005515, GO:0005096, GO:0003755, GO:0003723, metal ion binding, protein-containing complex binding, small GTPase binding, small GTPase binding, SUMO transferase activity, cyclosporin A binding, protein binding, GTPase activator activity, peptidyl-prolyl cis-trans isomerase activity, RNA binding, GO:1900034, GO:0075733, GO:0060964, GO:0051642, GO:0043547, GO:0033133, GO:0019083, GO:0016925, GO:0016925, GO:0016925, GO:0016032, GO:0006607, GO:0006607, GO:0006457, GO:0006409, GO:0006406, GO:0006111, GO:0006110, GO:0001975, GO:0000413, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, centrosome localization, positive regulation of GTPase activity, positive regulation of glucokinase activity, viral transcription, protein sumoylation, protein sumoylation, protein sumoylation, viral process, NLS-bearing protein import into nucleus, NLS-bearing protein import into nucleus, protein folding, tRNA export from nucleus, mRNA export from nucleus, regulation of gluconeogenesis, regulation of glycolytic process, response to amphetamine, protein peptidyl-prolyl isomerization, 2420 2242 4175 1446 985 1632 1509 829 1143 ENSG00000153207 chr1 246839098 246931967 - AHCTF1 protein_coding 25909 GO:0070062, GO:0031965, GO:0031080, GO:0016363, GO:0005829, GO:0005654, GO:0005643, GO:0005634, GO:0000785, GO:0000777, extracellular exosome, nuclear membrane, nuclear pore outer ring, nuclear matrix, cytosol, nucleoplasm, nuclear pore, nucleus, chromatin, condensed chromosome kinetochore, GO:0003700, GO:0003677, DNA-binding transcription factor activity, DNA binding, GO:0051301, GO:0051292, GO:0051028, GO:0032465, GO:0015031, GO:0007049, GO:0006355, cell division, nuclear pore complex assembly, mRNA transport, regulation of cytokinesis, protein transport, cell cycle, regulation of transcription, DNA-templated, 5645 5154 5861 3106 3936 3993 3449 2757 2780 ENSG00000153208 chr2 111898479 112029561 + MERTK protein_coding This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]. 10461 GO:0043235, GO:0016028, GO:0005887, GO:0005886, GO:0005737, GO:0005615, GO:0001750, receptor complex, rhabdomere, integral component of plasma membrane, plasma membrane, cytoplasm, extracellular space, photoreceptor outer segment, GO:0005524, GO:0005515, GO:0004714, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, GO:2000107, GO:0097350, GO:0060068, GO:0060041, GO:0051250, GO:0050900, GO:0050766, GO:0043491, GO:0034446, GO:0033674, GO:0032940, GO:0030168, GO:0018108, GO:0016477, GO:0007399, GO:0007283, GO:0007275, GO:0007267, GO:0007169, GO:0007166, GO:0006909, GO:0006909, GO:0006468, GO:0001818, GO:0001779, negative regulation of leukocyte apoptotic process, neutrophil clearance, vagina development, retina development in camera-type eye, negative regulation of lymphocyte activation, leukocyte migration, positive regulation of phagocytosis, protein kinase B signaling, substrate adhesion-dependent cell spreading, positive regulation of kinase activity, secretion by cell, platelet activation, peptidyl-tyrosine phosphorylation, cell migration, nervous system development, spermatogenesis, multicellular organism development, cell-cell signaling, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, phagocytosis, phagocytosis, protein phosphorylation, negative regulation of cytokine production, natural killer cell differentiation, 3 3 6 0 9 2 3 4 7 ENSG00000153214 chr2 112055223 112119318 + TMEM87B protein_coding This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]. 84910 GO:0016021, GO:0016020, GO:0005829, GO:0005794, GO:0000139, integral component of membrane, membrane, cytosol, Golgi apparatus, Golgi membrane, GO:0042147, GO:0042147, GO:0006810, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, transport, 115 137 143 166 130 168 116 99 154 ENSG00000153230 chr1 247738615 247739559 + OR14K1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 343170 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000153233 chr12 70638073 70920843 - PTPRR protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]. 5801 GO:0048471, GO:0030054, GO:0016021, GO:0005886, GO:0005829, GO:0005615, perinuclear region of cytoplasm, cell junction, integral component of membrane, plasma membrane, cytosol, extracellular space, GO:0019901, GO:0005515, GO:0005001, GO:0004725, protein kinase binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1903385, GO:0070373, GO:0038128, GO:0035335, GO:0010633, GO:0006470, GO:0001701, regulation of homophilic cell adhesion, negative regulation of ERK1 and ERK2 cascade, ERBB2 signaling pathway, peptidyl-tyrosine dephosphorylation, negative regulation of epithelial cell migration, protein dephosphorylation, in utero embryonic development, 0 0 0 0 0 0 0 0 0 ENSG00000153234 chr2 156324432 156342348 - NR4A2 protein_coding This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 4929 GO:0032991, GO:0016607, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, nuclear speck, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0046982, GO:0046965, GO:0035259, GO:0008270, GO:0008013, GO:0005515, GO:0004879, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein heterodimerization activity, retinoid X receptor binding, glucocorticoid receptor binding, zinc ion binding, beta-catenin binding, protein binding, nuclear receptor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001234, GO:1904948, GO:0071542, GO:0071542, GO:0071376, GO:0071376, GO:0060070, GO:0051866, GO:0045944, GO:0045944, GO:0045444, GO:0043576, GO:0043524, GO:0043085, GO:0042551, GO:0042416, GO:0042053, GO:0034599, GO:0031668, GO:0030522, GO:0021986, GO:0021953, GO:0021952, GO:0009791, GO:0008344, GO:0007165, GO:0006367, GO:0006357, GO:0006351, GO:0001975, GO:0001764, GO:0001666, GO:0000122, GO:0000122, negative regulation of apoptotic signaling pathway, midbrain dopaminergic neuron differentiation, dopaminergic neuron differentiation, dopaminergic neuron differentiation, cellular response to corticotropin-releasing hormone stimulus, cellular response to corticotropin-releasing hormone stimulus, canonical Wnt signaling pathway, general adaptation syndrome, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, fat cell differentiation, regulation of respiratory gaseous exchange, negative regulation of neuron apoptotic process, positive regulation of catalytic activity, neuron maturation, dopamine biosynthetic process, regulation of dopamine metabolic process, cellular response to oxidative stress, cellular response to extracellular stimulus, intracellular receptor signaling pathway, habenula development, central nervous system neuron differentiation, central nervous system projection neuron axonogenesis, post-embryonic development, adult locomotory behavior, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, transcription, DNA-templated, response to amphetamine, neuron migration, response to hypoxia, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 602 1086 889 3709 2479 4989 4240 2184 4330 ENSG00000153237 chr2 158171081 158456753 - CCDC148 protein_coding 130940 GO:0005515, protein binding, 5 9 4 3 10 9 0 5 9 ENSG00000153246 chr2 159932006 160062610 - PLA2R1 protein_coding This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]. 22925 GO:0043235, GO:0043235, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005576, receptor complex, receptor complex, integral component of membrane, cell surface, plasma membrane, plasma membrane, extracellular region, GO:0043274, GO:0038023, GO:0030246, phospholipase binding, signaling receptor activity, carbohydrate binding, GO:1904635, GO:1900139, GO:1900138, GO:0090403, GO:0090399, GO:0090238, GO:0072593, GO:0043517, GO:0006898, GO:0001816, positive regulation of glomerular visceral epithelial cell apoptotic process, negative regulation of arachidonic acid secretion, negative regulation of phospholipase A2 activity, oxidative stress-induced premature senescence, replicative senescence, positive regulation of arachidonic acid secretion, reactive oxygen species metabolic process, positive regulation of DNA damage response, signal transduction by p53 class mediator, receptor-mediated endocytosis, cytokine production, 1 0 0 1 0 0 0 0 0 ENSG00000153250 chr2 160272151 160493794 - RBMS1 protein_coding This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]. 5937 GO:1990904, GO:0005829, GO:0005829, GO:0005634, GO:0005634, ribonucleoprotein complex, cytosol, cytosol, nucleus, nucleus, GO:0008266, GO:0008143, GO:0005515, GO:0003730, GO:0003723, GO:0003723, GO:0003723, GO:0003697, GO:0003690, poly(U) RNA binding, poly(A) binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA binding, RNA binding, single-stranded DNA binding, double-stranded DNA binding, GO:0006396, GO:0006260, RNA processing, DNA replication, 1687 1602 1793 1139 1738 1674 1337 1330 1369 ENSG00000153253 chr2 165087522 165204067 - SCN3A protein_coding Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6328 GO:0030424, GO:0005737, GO:0001518, axon, cytoplasm, voltage-gated sodium channel complex, GO:0005248, GO:0005248, GO:0005244, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0086010, GO:0035725, GO:0034765, GO:0019228, GO:0006814, membrane depolarization during action potential, sodium ion transmembrane transport, regulation of ion transmembrane transport, neuronal action potential, sodium ion transport, 1 2 1 7 2 5 4 3 4 ENSG00000153266 chr3 62369681 62374324 - FEZF2 protein_coding 55079 GO:0005634, nucleus, GO:0046872, GO:0003682, GO:0001228, GO:0001227, GO:0000978, metal ion binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902667, GO:0048664, GO:0045944, GO:0045666, GO:0045665, GO:0043697, GO:0021902, GO:0021853, GO:0021797, GO:0021542, GO:0016571, GO:0016358, GO:0010468, GO:0008285, GO:0007626, GO:0007413, GO:0000122, regulation of axon guidance, neuron fate determination, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, negative regulation of neuron differentiation, cell dedifferentiation, commitment of neuronal cell to specific neuron type in forebrain, cerebral cortex GABAergic interneuron migration, forebrain anterior/posterior pattern specification, dentate gyrus development, histone methylation, dendrite development, regulation of gene expression, negative regulation of cell population proliferation, locomotory behavior, axonal fasciculation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000153283 chr3 111292719 111665750 + CD96 protein_coding The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]. 10225 GO:0005887, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0050776, GO:0032689, GO:0032496, GO:0007160, GO:0007160, GO:0007155, GO:0006955, GO:0006954, GO:0002728, GO:0002534, regulation of immune response, negative regulation of interferon-gamma production, response to lipopolysaccharide, cell-matrix adhesion, cell-matrix adhesion, cell adhesion, immune response, inflammatory response, negative regulation of natural killer cell cytokine production, cytokine production involved in inflammatory response, 141 72 207 473 122 447 381 145 441 ENSG00000153291 chr6 46652915 46678193 + SLC25A27 protein_coding Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]. 9481 GO:0045177, GO:0043025, GO:0031966, GO:0016021, GO:0005743, GO:0005739, apical part of cell, neuronal cell body, mitochondrial membrane, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:1902600, GO:0070997, GO:0051562, GO:0048839, GO:0046324, GO:0043066, GO:0035356, GO:0010917, GO:0009409, GO:0008284, proton transmembrane transport, neuron death, negative regulation of mitochondrial calcium ion concentration, inner ear development, regulation of glucose import, negative regulation of apoptotic process, cellular triglyceride homeostasis, negative regulation of mitochondrial membrane potential, response to cold, positive regulation of cell population proliferation, 22 18 57 11 18 8 6 4 14 ENSG00000153292 chr6 46997703 47042363 - ADGRF1 protein_coding 266977 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0004930, G protein-coupled receptor activity, GO:0032793, GO:0031175, GO:0007613, GO:0007416, GO:0007189, GO:0007186, GO:0007166, positive regulation of CREB transcription factor activity, neuron projection development, memory, synapse assembly, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 1 0 0 0 0 0 0 0 ENSG00000153294 chr6 47685864 47722021 + ADGRF4 protein_coding Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protein-couple receptors. G protein-coupled receptors typically contain seven hydrophobic transmembrane domains, interact with guanine nucleotide binding regulatory proteins, and detect molecules outside the cell and act to transduce these signals into intracellular responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]. 221393 GO:0016021, integral component of membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0007186, GO:0007166, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000153303 chr6 168053166 168101511 - FRMD1 protein_coding 79981 GO:0098592, GO:0005856, cytoplasmic side of apical plasma membrane, cytoskeleton, GO:0033613, GO:0005515, activating transcription factor binding, protein binding, GO:0035332, positive regulation of hippo signaling, 0 0 0 0 0 0 0 0 0 ENSG00000153310 chr8 129839593 130017129 - FAM49B protein_coding 51571 GO:0070062, GO:0031093, GO:0016020, GO:0005929, GO:0005739, GO:0005576, extracellular exosome, platelet alpha granule lumen, membrane, cilium, mitochondrion, extracellular region, GO:0031267, GO:0031267, GO:0023030, GO:0005515, small GTPase binding, small GTPase binding, MHC class Ib protein binding, via antigen binding groove, protein binding, GO:2000568, GO:2000114, GO:0090140, GO:0071219, GO:0051058, GO:0050920, GO:0050870, GO:0050870, GO:0032729, GO:0030837, GO:0030334, GO:0002576, GO:0001916, positive regulation of memory T cell activation, regulation of establishment of cell polarity, regulation of mitochondrial fission, cellular response to molecule of bacterial origin, negative regulation of small GTPase mediated signal transduction, regulation of chemotaxis, positive regulation of T cell activation, positive regulation of T cell activation, positive regulation of interferon-gamma production, negative regulation of actin filament polymerization, regulation of cell migration, platelet degranulation, positive regulation of T cell mediated cytotoxicity, 6393 5172 7092 3363 5721 5040 3984 4611 4503 ENSG00000153317 chr8 130052104 130443660 - ASAP1 protein_coding This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 50807 GO:0043197, GO:0031253, GO:0005829, GO:0002102, dendritic spine, cell projection membrane, cytosol, podosome, GO:0046872, GO:0045296, GO:0005547, GO:0005546, GO:0005515, GO:0005096, GO:0001786, metal ion binding, cadherin binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GTPase activator activity, phosphatidylserine binding, GO:1903527, GO:0071803, GO:0061000, GO:0060271, GO:0060271, GO:0043547, positive regulation of membrane tubulation, positive regulation of podosome assembly, negative regulation of dendritic spine development, cilium assembly, cilium assembly, positive regulation of GTPase activity, 3418 3615 5460 1087 2004 2220 1465 1782 1904 ENSG00000153339 chr18 31829173 31953136 - TRAPPC8 protein_coding 22878 GO:1990072, GO:0031410, GO:0030008, GO:0005829, GO:0000407, TRAPPIII protein complex, cytoplasmic vesicle, TRAPP complex, cytosol, phagophore assembly site, GO:0005515, protein binding, GO:0034497, GO:0030242, GO:0007030, GO:0006888, protein localization to phagophore assembly site, autophagy of peroxisome, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, 1333 1189 1268 672 995 961 831 827 791 ENSG00000153347 chr5 95391344 95450454 + FAM81B protein_coding 153643 GO:0005634, nucleus, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000153363 chr1 211382803 211435333 + LINC00467 lincRNA 10 7 11 10 15 10 8 13 11 ENSG00000153391 chr18 35452230 35497991 - INO80C protein_coding 125476 GO:0071339, GO:0031011, GO:0031011, GO:0005654, MLL1 complex, Ino80 complex, Ino80 complex, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0016579, GO:0008150, GO:0006338, GO:0006310, GO:0006281, protein deubiquitination, biological_process, chromatin remodeling, DNA recombination, DNA repair, 45 42 74 54 70 84 61 61 56 ENSG00000153395 chr5 1456480 1523977 - LPCAT1 protein_coding This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]. 79888 GO:0035577, GO:0016021, GO:0016020, GO:0005886, GO:0005811, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0000139, azurophil granule membrane, integral component of membrane, membrane, plasma membrane, lipid droplet, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0050200, GO:0047192, GO:0047191, GO:0047184, GO:0047184, GO:0047159, GO:0005509, GO:0003841, plasmalogen synthase activity, 1-alkylglycerophosphocholine O-acetyltransferase activity, 1-alkylglycerophosphocholine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, 1-alkenylglycerophosphocholine O-acyltransferase activity, calcium ion binding, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:2001246, GO:0060041, GO:0045732, GO:0043312, GO:0043129, GO:0036151, GO:0036151, GO:0036148, GO:0008654, GO:0006656, GO:0006654, negative regulation of phosphatidylcholine biosynthetic process, retina development in camera-type eye, positive regulation of protein catabolic process, neutrophil degranulation, surfactant homeostasis, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, phospholipid biosynthetic process, phosphatidylcholine biosynthetic process, phosphatidic acid biosynthetic process, 107 112 129 58 111 73 62 46 114 ENSG00000153404 chr5 92151 189972 + PLEKHG4B protein_coding This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017]. 153478 GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, 0 0 0 0 0 0 0 0 0 ENSG00000153406 chr16 4461680 4495763 - NMRAL1 protein_coding This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 57407 GO:0048471, GO:0005829, GO:0005654, perinuclear region of cytoplasm, cytosol, nucleoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0000050, urea cycle, 0 1 0 0 0 0 1 0 0 ENSG00000153443 chr16 4608883 4615027 - UBALD1 protein_coding 124402 GO:0005515, protein binding, 378 335 468 292 409 290 392 326 171 ENSG00000153446 chr16 5044122 5066110 - C16orf89 protein_coding This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 146556 GO:0070062, GO:0016020, GO:0016020, GO:0005829, GO:0005829, extracellular exosome, membrane, membrane, cytosol, cytosol, GO:0042803, protein homodimerization activity, 0 0 0 0 0 0 0 0 0 ENSG00000153485 chr14 93184951 93187089 + TMEM251 protein_coding 26175 GO:0016021, integral component of membrane, 0 0 1 0 1 1 1 0 3 ENSG00000153487 chr13 110712736 110723339 + ING1 protein_coding This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 3621 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0035064, GO:0035064, GO:0005515, metal ion binding, methylated histone binding, methylated histone binding, protein binding, GO:0045893, GO:0030308, GO:0010941, GO:0008285, GO:0007049, positive regulation of transcription, DNA-templated, negative regulation of cell growth, regulation of cell death, negative regulation of cell population proliferation, cell cycle, 370 277 292 192 381 252 213 279 253 ENSG00000153495 chr13 111316184 111344249 + TEX29 protein_coding 121793 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 1 2 1 2 0 3 8 ENSG00000153498 chr13 112376319 112434689 + SPACA7 protein_coding 122258 GO:0043160, GO:0005576, GO:0001669, acrosomal lumen, extracellular region, acrosomal vesicle, GO:0007338, single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000153531 chr13 113399610 113453524 - ADPRHL1 protein_coding ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]. 113622 GO:0003875, GO:0000287, ADP-ribosylarginine hydrolase activity, magnesium ion binding, GO:0051725, protein de-ADP-ribosylation, 9 11 4 2 10 7 6 11 4 ENSG00000153551 chr3 32391671 32483067 + CMTM7 protein_coding This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor that regulates G1/S transition in the cell cycle, and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]. 112616 GO:0016021, GO:0016020, GO:0005615, integral component of membrane, membrane, extracellular space, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0007165, GO:0006935, GO:0002337, signal transduction, chemotaxis, B-1a B cell differentiation, 1054 1069 1336 338 555 476 416 547 482 ENSG00000153558 chr3 33277025 33403662 + FBXL2 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 25827 GO:0019005, GO:0019005, GO:0016020, GO:0005737, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, membrane, cytoplasm, GO:0036312, GO:0019903, GO:0005516, GO:0005515, phosphatidylinositol 3-kinase regulatory subunit binding, protein phosphatase binding, calmodulin binding, protein binding, GO:0044830, GO:0031146, GO:0031146, GO:0016567, GO:0016032, GO:0014066, GO:0010506, GO:0006513, GO:0006508, GO:0006464, modulation by host of viral RNA genome replication, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, viral process, regulation of phosphatidylinositol 3-kinase signaling, regulation of autophagy, protein monoubiquitination, proteolysis, cellular protein modification process, 0 5 8 4 7 4 1 2 10 ENSG00000153560 chr3 33388336 33441371 - UBP1 protein_coding 7342 GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0032897, GO:0006357, GO:0006357, GO:0001525, positive regulation of transcription by RNA polymerase II, negative regulation of viral transcription, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, angiogenesis, 267 239 328 334 275 373 265 201 286 ENSG00000153561 chr2 86720173 86778041 + RMND5A protein_coding 64795 GO:0034657, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000151, GO:0000151, GID complex, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, ubiquitin ligase complex, GO:0046872, GO:0005515, GO:0004842, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0043161, GO:0000209, proteasome-mediated ubiquitin-dependent protein catabolic process, protein polyubiquitination, 1590 1859 2066 516 1262 713 667 1143 766 ENSG00000153563 chr2 86784610 86808396 - CD8A protein_coding The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. The major protein isoforms of this gene differ by the presence or absence of a transmembrane domain and thus differ in being a membrane-anchored or secreted protein. [provided by RefSeq, May 2020]. 925 GO:0044853, GO:0042101, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005576, plasma membrane raft, T cell receptor complex, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0042288, GO:0023024, GO:0015026, GO:0005515, MHC class I protein binding, MHC class I protein complex binding, coreceptor activity, protein binding, GO:0050776, GO:0045065, GO:0042110, GO:0019882, GO:0007169, GO:0007166, GO:0006955, GO:0002456, regulation of immune response, cytotoxic T cell differentiation, T cell activation, antigen processing and presentation, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, immune response, T cell mediated immunity, 176 123 569 302 183 877 342 209 711 ENSG00000153574 chr2 88691644 88750935 + RPIA protein_coding The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]. 22934 GO:0043231, GO:0005829, intracellular membrane-bounded organelle, cytosol, GO:0048029, GO:0042802, GO:0005515, GO:0004751, GO:0004751, GO:0004751, monosaccharide binding, identical protein binding, protein binding, ribose-5-phosphate isomerase activity, ribose-5-phosphate isomerase activity, ribose-5-phosphate isomerase activity, GO:0019693, GO:0009052, GO:0006098, GO:0006014, ribose phosphate metabolic process, pentose-phosphate shunt, non-oxidative branch, pentose-phosphate shunt, D-ribose metabolic process, 53 55 67 62 36 77 38 41 56 ENSG00000153684 chr15 28378621 28392018 + GOLGA8F protein_coding 100132565 0 0 0 0 0 0 0 0 0 ENSG00000153707 chr9 8314246 10612723 - PTPRD protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]. 5789 GO:0098978, GO:0098978, GO:0070062, GO:0005887, GO:0005886, glutamatergic synapse, glutamatergic synapse, extracellular exosome, integral component of plasma membrane, plasma membrane, GO:0050839, GO:0005515, GO:0005102, GO:0005001, GO:0004725, cell adhesion molecule binding, protein binding, signaling receptor binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1905606, GO:1905606, GO:0099560, GO:0099560, GO:0099560, GO:0099545, GO:0099545, GO:0097105, GO:0051965, GO:0050775, GO:0035335, GO:0030182, GO:0007185, GO:0007157, GO:0006796, GO:0006470, regulation of presynapse assembly, regulation of presynapse assembly, synaptic membrane adhesion, synaptic membrane adhesion, synaptic membrane adhesion, trans-synaptic signaling by trans-synaptic complex, trans-synaptic signaling by trans-synaptic complex, presynaptic membrane assembly, positive regulation of synapse assembly, positive regulation of dendrite morphogenesis, peptidyl-tyrosine dephosphorylation, neuron differentiation, transmembrane receptor protein tyrosine phosphatase signaling pathway, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, phosphate-containing compound metabolic process, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000153714 chr9 12775021 12822131 + LURAP1L protein_coding 286343 GO:0005515, protein binding, GO:0043123, positive regulation of I-kappaB kinase/NF-kappaB signaling, 0 2 0 0 0 0 0 0 0 ENSG00000153721 chr6 154387504 154510659 - CNKSR3 protein_coding 154043 GO:0016324, GO:0005737, apical plasma membrane, cytoplasm, GO:0005515, protein binding, GO:2000651, GO:0070373, GO:0033137, GO:0010765, positive regulation of sodium ion transmembrane transporter activity, negative regulation of ERK1 and ERK2 cascade, negative regulation of peptidyl-serine phosphorylation, positive regulation of sodium ion transport, 1 13 4 0 0 0 0 0 0 ENSG00000153767 chr3 120742637 120783069 + GTF2E1 protein_coding 2960 GO:0097550, GO:0005829, GO:0005673, GO:0005669, GO:0005654, GO:0005654, GO:0005634, transcription preinitiation complex, cytosol, transcription factor TFIIE complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0016251, GO:0005515, metal ion binding, RNA polymerase II general transcription initiation factor activity, protein binding, GO:0042795, GO:0016032, GO:0006367, GO:0006366, GO:0006366, GO:0001113, snRNA transcription by RNA polymerase II, viral process, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription open complex formation at RNA polymerase II promoter, 52 67 81 40 42 50 17 35 36 ENSG00000153774 chr16 75293698 75433485 - CFDP1 protein_coding 10428 GO:0005575, GO:0000777, cellular_component, condensed chromosome kinetochore, GO:0003674, molecular_function, GO:2000270, GO:0042127, GO:0008360, GO:0008150, GO:0007275, GO:0007155, negative regulation of fibroblast apoptotic process, regulation of cell population proliferation, regulation of cell shape, biological_process, multicellular organism development, cell adhesion, 105 114 88 59 102 96 44 103 48 ENSG00000153779 chrX 89921882 89922883 + TGIF2LX protein_coding This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008]. 90316 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000153786 chr16 84974181 85011535 - ZDHHC7 protein_coding 55625 GO:0016021, GO:0005794, GO:0005794, GO:0005783, GO:0005654, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, nucleoplasm, Golgi membrane, GO:0019706, GO:0019706, GO:0019706, GO:0016409, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, GO:1903076, GO:1902044, GO:0150106, GO:0044381, GO:0030859, GO:0018345, GO:0018345, GO:0018230, GO:0018230, GO:0018230, GO:0009895, GO:0008277, GO:0006612, regulation of protein localization to plasma membrane, regulation of Fas signaling pathway, regulation of protein localization to cell-cell junction, glucose import in response to insulin stimulus, polarized epithelial cell differentiation, protein palmitoylation, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, negative regulation of catabolic process, regulation of G protein-coupled receptor signaling pathway, protein targeting to membrane, 636 734 788 455 709 571 464 626 467 ENSG00000153789 chr16 85098358 85112508 - FAM92B protein_coding 339145 GO:0042995, GO:0005814, GO:0005737, cell projection, centriole, cytoplasm, GO:0005515, protein binding, GO:0030030, cell projection organization, 0 3 0 0 0 0 0 3 0 ENSG00000153790 chr7 25134697 25180356 - C7orf31 protein_coding 136895 GO:0005813, GO:0005813, GO:0005737, centrosome, centrosome, cytoplasm, GO:0005515, protein binding, 6 12 15 26 3 19 26 9 23 ENSG00000153802 chr4 67820876 67884032 - TMPRSS11D protein_coding This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq, Jul 2008]. 9407 GO:0070062, GO:0005887, GO:0005576, extracellular exosome, integral component of plasma membrane, extracellular region, GO:0008233, GO:0005515, GO:0004252, peptidase activity, protein binding, serine-type endopeptidase activity, GO:0007585, GO:0006508, respiratory gaseous exchange by respiratory system, proteolysis, 3 0 0 0 2 0 0 0 0 ENSG00000153814 chr7 27830573 28180743 - JAZF1 protein_coding This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]. 221895 GO:0017053, GO:0005829, GO:0005654, GO:0005634, GO:0001650, transcription repressor complex, cytosol, nucleoplasm, nucleus, fibrillar center, GO:0046872, GO:0005515, GO:0003714, metal ion binding, protein binding, transcription corepressor activity, GO:0006629, GO:0000122, lipid metabolic process, negative regulation of transcription by RNA polymerase II, 331 282 402 132 218 194 167 181 216 ENSG00000153815 chr16 81445170 81711762 + CMIP protein_coding This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 80790 GO:0005829, GO:0005829, GO:0005654, GO:0005654, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0005515, protein binding, 1654 1945 2167 1071 1682 1672 1308 1474 1420 ENSG00000153820 chr2 227979950 228181645 - SPHKAP protein_coding 80309 GO:0005739, GO:0005737, mitochondrion, cytoplasm, GO:0051018, GO:0051018, GO:0005515, protein kinase A binding, protein kinase A binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000153822 chr17 70053429 70135608 + KCNJ16 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]. 3773 GO:0016323, GO:0008076, GO:0005886, GO:0005886, basolateral plasma membrane, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0005242, GO:0005242, inward rectifier potassium channel activity, inward rectifier potassium channel activity, GO:1990573, GO:0034765, GO:0006813, potassium ion import across plasma membrane, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000153823 chr2 228850526 229271285 - PID1 protein_coding 55022 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:2001171, GO:2001170, GO:2000379, GO:2000377, GO:2000377, GO:1903077, GO:0071398, GO:0071356, GO:0071356, GO:0071354, GO:0071345, GO:0070584, GO:0070346, GO:0051881, GO:0051881, GO:0046627, GO:0046325, GO:0046325, GO:0045944, GO:0045444, GO:0044320, GO:0010635, GO:0010628, GO:0006112, GO:0001933, positive regulation of ATP biosynthetic process, negative regulation of ATP biosynthetic process, positive regulation of reactive oxygen species metabolic process, regulation of reactive oxygen species metabolic process, regulation of reactive oxygen species metabolic process, negative regulation of protein localization to plasma membrane, cellular response to fatty acid, cellular response to tumor necrosis factor, cellular response to tumor necrosis factor, cellular response to interleukin-6, cellular response to cytokine stimulus, mitochondrion morphogenesis, positive regulation of fat cell proliferation, regulation of mitochondrial membrane potential, regulation of mitochondrial membrane potential, negative regulation of insulin receptor signaling pathway, negative regulation of glucose import, negative regulation of glucose import, positive regulation of transcription by RNA polymerase II, fat cell differentiation, cellular response to leptin stimulus, regulation of mitochondrial fusion, positive regulation of gene expression, energy reserve metabolic process, negative regulation of protein phosphorylation, 1 0 3 2 9 2 0 0 1 ENSG00000153827 chr2 229763838 229923239 - TRIP12 protein_coding The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]. 9320 GO:0016607, GO:0016607, GO:0005829, GO:0005654, GO:0005634, nuclear speck, nuclear speck, cytosol, nucleoplasm, nucleus, GO:0061630, GO:0061630, GO:0046966, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, thyroid hormone receptor binding, protein binding, GO:2000780, GO:2000779, GO:1901315, GO:1901315, GO:0045995, GO:0006974, GO:0006974, GO:0006511, GO:0006511, GO:0006511, GO:0006281, GO:0000209, GO:0000209, negative regulation of double-strand break repair, regulation of double-strand break repair, negative regulation of histone H2A K63-linked ubiquitination, negative regulation of histone H2A K63-linked ubiquitination, regulation of embryonic development, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, DNA repair, protein polyubiquitination, protein polyubiquitination, 3715 3607 4732 1790 2641 2612 2270 1906 2164 ENSG00000153832 chr2 229922302 230013109 + FBXO36 protein_coding Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 130888 5 0 1 5 7 6 5 1 0 ENSG00000153879 chr19 33373330 33382686 + CEBPG protein_coding The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011]. 1054 GO:0005654, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0044877, GO:0044377, GO:0043565, GO:0042802, GO:0008134, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein-containing complex binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, bending, sequence-specific DNA binding, identical protein binding, transcription factor binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051091, GO:0045944, GO:0045739, GO:0043433, GO:0043388, GO:0043353, GO:0042267, GO:0032729, GO:0030183, GO:0016071, GO:0006955, GO:0006357, GO:0006357, GO:0001889, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of DNA repair, negative regulation of DNA-binding transcription factor activity, positive regulation of DNA binding, enucleate erythrocyte differentiation, natural killer cell mediated cytotoxicity, positive regulation of interferon-gamma production, B cell differentiation, mRNA metabolic process, immune response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, liver development, 58 44 119 85 48 107 98 51 90 ENSG00000153885 chr19 33795933 33815763 + KCTD15 protein_coding 79047 GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0051260, GO:0007275, protein homooligomerization, multicellular organism development, 15 11 31 7 8 16 18 4 11 ENSG00000153896 chr19 34758076 34773229 - ZNF599 protein_coding 148103 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 3 4 4 4 6 3 6 5 ENSG00000153898 chr1 84925583 84997113 - MCOLN2 protein_coding Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]. 255231 GO:0055038, GO:0031902, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005765, recycling endosome membrane, late endosome membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, lysosomal membrane, GO:0072345, GO:0042802, NAADP-sensitive calcium-release channel activity, identical protein binding, GO:2000343, GO:1990266, GO:1905517, GO:0071651, GO:0071642, GO:0071639, GO:0070588, GO:0051209, GO:0045087, GO:0015031, GO:0002250, positive regulation of chemokine (C-X-C motif) ligand 2 production, neutrophil migration, macrophage migration, positive regulation of chemokine (C-C motif) ligand 5 production, positive regulation of macrophage inflammatory protein 1 alpha production, positive regulation of monocyte chemotactic protein-1 production, calcium ion transmembrane transport, release of sequestered calcium ion into cytosol, innate immune response, protein transport, adaptive immune response, 15 12 54 51 13 31 46 3 15 ENSG00000153902 chr19 35124513 35142451 - LGI4 protein_coding 163175 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0042551, GO:0031641, GO:0022011, GO:0014009, GO:0008344, neuron maturation, regulation of myelination, myelination in peripheral nervous system, glial cell proliferation, adult locomotory behavior, 3 0 0 4 0 2 0 0 0 ENSG00000153904 chr1 85318481 85578363 - DDAH1 protein_coding This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008]. 23576 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0046872, GO:0016597, GO:0016403, GO:0016403, GO:0003824, metal ion binding, amino acid binding, dimethylargininase activity, dimethylargininase activity, catalytic activity, GO:1900038, GO:0050999, GO:0045766, GO:0045429, GO:0045429, GO:0043116, GO:0008285, GO:0007263, GO:0006527, GO:0006525, GO:0003073, GO:0000052, GO:0000052, negative regulation of cellular response to hypoxia, regulation of nitric-oxide synthase activity, positive regulation of angiogenesis, positive regulation of nitric oxide biosynthetic process, positive regulation of nitric oxide biosynthetic process, negative regulation of vascular permeability, negative regulation of cell population proliferation, nitric oxide mediated signal transduction, arginine catabolic process, arginine metabolic process, regulation of systemic arterial blood pressure, citrulline metabolic process, citrulline metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000153914 chr5 66139971 66183615 + SREK1 protein_coding This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 140890 GO:0016607, GO:0005681, GO:0005654, GO:0005654, nuclear speck, spliceosomal complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0008380, GO:0006397, GO:0000381, RNA splicing, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, 1040 975 1097 846 965 991 883 692 679 ENSG00000153922 chr5 98853985 98928957 - CHD1 protein_coding The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]. 1105 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0035064, GO:0035064, GO:0005524, GO:0005515, GO:0003678, GO:0003677, methylated histone binding, methylated histone binding, ATP binding, protein binding, DNA helicase activity, DNA binding, GO:0043923, GO:0032508, GO:0016569, GO:0006357, GO:0006338, positive regulation by host of viral transcription, DNA duplex unwinding, covalent chromatin modification, regulation of transcription by RNA polymerase II, chromatin remodeling, 12650 11151 19685 4379 5309 7821 5407 4195 6110 ENSG00000153923 chr1 86634273 86655376 + CLCA3P transcribed_unprocessed_pseudogene This gene is a transcribed pseudogene belonging to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. This gene contains several nonsense codons compared to other family members that render the transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this gene is unlikely to be protein-coding. [provided by RefSeq, Jan 2009]. 9629 GO:0034707, GO:0005886, GO:0005615, chloride channel complex, plasma membrane, extracellular space, GO:0005262, GO:0005254, GO:0005244, GO:0005215, calcium channel activity, chloride channel activity, voltage-gated ion channel activity, transporter activity, GO:1902476, GO:0070588, GO:0034765, GO:0034220, chloride transmembrane transport, calcium ion transmembrane transport, regulation of ion transmembrane transport, ion transmembrane transport, 0 1 0 3 0 0 4 0 3 ENSG00000153930 chr17 55882301 56511659 + ANKFN1 protein_coding 162282 0 0 1 4 0 5 0 0 1 ENSG00000153933 chr17 56834099 56869567 + DGKE protein_coding Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]. 8526 GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005829, GO:0005737, GO:0005654, integral component of membrane, membrane, membrane, plasma membrane, cytosol, cytoplasm, nucleoplasm, GO:0046872, GO:0016301, GO:0005524, GO:0004143, GO:0004143, GO:0003951, metal ion binding, kinase activity, ATP binding, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:0046834, GO:0046834, GO:0046339, GO:0046339, GO:0035556, GO:0030168, GO:0007205, GO:0006661, GO:0006654, lipid phosphorylation, lipid phosphorylation, diacylglycerol metabolic process, diacylglycerol metabolic process, intracellular signal transduction, platelet activation, protein kinase C-activating G protein-coupled receptor signaling pathway, phosphatidylinositol biosynthetic process, phosphatidic acid biosynthetic process, 53 42 73 113 49 124 128 59 90 ENSG00000153936 chr1 86914648 87109998 + HS2ST1 protein_coding Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]. 9653 GO:0016021, GO:0016020, GO:0000139, integral component of membrane, membrane, Golgi membrane, GO:0008146, GO:0004394, GO:0004394, sulfotransferase activity, heparan sulfate 2-O-sulfotransferase activity, heparan sulfate 2-O-sulfotransferase activity, GO:0015015, GO:0015014, GO:0006024, heparan sulfate proteoglycan biosynthetic process, enzymatic modification, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, glycosaminoglycan biosynthetic process, 86 111 89 72 35 34 72 50 69 ENSG00000153944 chr17 57255851 57684685 + MSI2 protein_coding This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]. 124540 GO:0005844, GO:0005737, polysome, cytoplasm, GO:0042802, GO:0008266, GO:0005515, GO:0003723, identical protein binding, poly(U) RNA binding, protein binding, RNA binding, GO:0048864, stem cell development, 219 192 339 211 170 338 262 135 200 ENSG00000153956 chr7 81946444 82443798 - CACNA2D1 protein_coding The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]. 781 GO:1990454, GO:1990454, GO:0070062, GO:0016529, GO:0005891, GO:0005891, GO:0005886, L-type voltage-gated calcium channel complex, L-type voltage-gated calcium channel complex, extracellular exosome, sarcoplasmic reticulum, voltage-gated calcium channel complex, voltage-gated calcium channel complex, plasma membrane, GO:0086057, GO:0086007, GO:0046872, GO:0005245, GO:0005245, GO:0005245, GO:0005245, voltage-gated calcium channel activity involved in bundle of His cell action potential, voltage-gated calcium channel activity involved in cardiac muscle cell action potential, metal ion binding, voltage-gated calcium channel activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:1904646, GO:1902514, GO:1901843, GO:0098903, GO:0098703, GO:0086091, GO:0086048, GO:0086002, GO:0061577, GO:0061337, GO:0060402, GO:0060307, GO:0051924, GO:0006816, cellular response to amyloid-beta, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, positive regulation of high voltage-gated calcium channel activity, regulation of membrane repolarization during action potential, calcium ion import across plasma membrane, regulation of heart rate by cardiac conduction, membrane depolarization during bundle of His cell action potential, cardiac muscle cell action potential involved in contraction, calcium ion transmembrane transport via high voltage-gated calcium channel, cardiac conduction, calcium ion transport into cytosol, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of calcium ion transport, calcium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000153975 chr6 116635618 116668794 - ZUP1 protein_coding This gene encodes a protein containing zinc finger motifs and a cysteine peptidase domain. The encoded protein functions as a K63-specific de-ubiquitinating enzyme that specifically cleaves long K63-linked polyubiquitin chains in the middle of a chain (i.e. 'endo cleavage) rather than by removing the terminal ubiquitin from a chain. This enzyme is thought to be involved in the regulation of DNA repair by cleaving K63-linked ubiquitin chains at repair foci. This protein is related to proteases for the ubiquitin-like modifiers Ufm1 (ubiquitin fold modifier 1) and Atg8/Gabarapl2, but does not have any activity on these modifiers. [provided by RefSeq, Mar 2018]. 221302 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0005515, GO:0004843, metal ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0010468, GO:0006508, regulation of gene expression, proteolysis, 22 28 49 54 28 59 38 28 45 ENSG00000153976 chr17 13495689 13601927 - HS3ST3A1 protein_coding Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Dec 2014]. 9955 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0033872, GO:0008467, GO:0008146, [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, sulfotransferase activity, GO:0006024, glycosaminoglycan biosynthetic process, 3 4 0 0 3 0 4 0 0 ENSG00000153982 chr17 59220467 59275967 + GDPD1 protein_coding This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 284161 GO:0048471, GO:0016021, GO:0016020, GO:0005789, GO:0005783, perinuclear region of cytoplasm, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0046872, GO:0008081, GO:0008081, GO:0004622, GO:0004622, metal ion binding, phosphoric diester hydrolase activity, phosphoric diester hydrolase activity, lysophospholipase activity, lysophospholipase activity, GO:0070291, GO:0070291, GO:0046475, N-acylethanolamine metabolic process, N-acylethanolamine metabolic process, glycerophospholipid catabolic process, 0 7 0 5 0 3 3 0 12 ENSG00000153989 chr6 117675502 117710640 + NUS1 protein_coding This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The encoded protein is essential for dolichol synthesis and protein glycosylation. This gene is highly expressed in non-small cell lung carcinomas as well as estrogen receptor-alpha positive breast cancer cells where it promotes epithelial mesenchymal transition. This gene is associated with the poor prognosis of human hepatocellular carcinoma patients. Naturally occurring mutations in this gene cause a congenital disorder of glycosylation and are associated with epilepsy. A knockout of the orthologous gene in mice causes embryonic lethality before day 6.5. Pseudogenes of this gene have been defined on chromosomes 13 and X. [provided by RefSeq, May 2017]. 116150 GO:1904423, GO:1904423, GO:0016021, GO:0005789, GO:0005789, GO:0005789, dehydrodolichyl diphosphate synthase complex, dehydrodolichyl diphosphate synthase complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0045547, GO:0005515, GO:0004659, dehydrodolichyl diphosphate synthase activity, protein binding, prenyltransferase activity, GO:0051000, GO:0043536, GO:0042632, GO:0038084, GO:0035268, GO:0032383, GO:0030154, GO:0019408, GO:0019408, GO:0006489, GO:0006489, GO:0006486, GO:0001525, positive regulation of nitric-oxide synthase activity, positive regulation of blood vessel endothelial cell migration, cholesterol homeostasis, vascular endothelial growth factor signaling pathway, protein mannosylation, regulation of intracellular cholesterol transport, cell differentiation, dolichol biosynthetic process, dolichol biosynthetic process, dolichyl diphosphate biosynthetic process, dolichyl diphosphate biosynthetic process, protein glycosylation, angiogenesis, 81 42 73 127 56 184 130 58 103 ENSG00000153993 chr7 84995553 85186855 - SEMA3D protein_coding This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]. 223117 GO:0005887, GO:0005615, integral component of plasma membrane, extracellular space, GO:0045499, GO:0030215, chemorepellent activity, semaphorin receptor binding, GO:0071526, GO:0050919, GO:0048843, GO:0030335, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, axon guidance, neural crest cell migration, 0 0 0 0 0 0 0 0 0 ENSG00000154001 chr14 63371357 63543374 - PPP2R5E protein_coding The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]. 5529 GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0000159, cytosol, cytosol, cytoplasm, nucleus, protein phosphatase type 2A complex, GO:0072542, GO:0019888, GO:0005515, protein phosphatase activator activity, protein phosphatase regulator activity, protein binding, GO:0043666, GO:0031952, GO:0007165, GO:0006470, regulation of phosphoprotein phosphatase activity, regulation of protein autophosphorylation, signal transduction, protein dephosphorylation, 382 388 396 249 329 269 301 233 281 ENSG00000154007 chr1 75918873 75932431 - ASB17 protein_coding 127247 GO:0005829, cytosol, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000154016 chr17 19020673 19047637 - GRAP protein_coding This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]. 10750 GO:0098793, GO:0016020, GO:0005829, GO:0005737, presynapse, membrane, cytosol, cytoplasm, GO:0005515, protein binding, GO:0007605, GO:0007267, GO:0007265, sensory perception of sound, cell-cell signaling, Ras protein signal transduction, 26 13 28 72 18 53 66 16 35 ENSG00000154025 chr17 18950345 19022595 + SLC5A10 protein_coding This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 125206 GO:0070062, GO:0016021, GO:0005886, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, GO:0015370, GO:0005412, solute:sodium symporter activity, glucose:sodium symporter activity, GO:1904659, GO:0035725, GO:0008645, GO:0006814, glucose transmembrane transport, sodium ion transmembrane transport, hexose transmembrane transport, sodium ion transport, 26 11 24 67 21 40 62 14 37 ENSG00000154027 chr1 77282051 77559969 + AK5 protein_coding This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 26289 GO:0034451, GO:0005829, GO:0005829, GO:0005829, GO:0005737, centriolar satellite, cytosol, cytosol, cytosol, cytoplasm, GO:0005524, GO:0004550, GO:0004550, GO:0004017, ATP binding, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, adenylate kinase activity, GO:0046940, GO:0046034, GO:0015949, GO:0009220, GO:0009142, GO:0009142, GO:0006173, GO:0006172, GO:0006165, GO:0006165, GO:0006163, nucleoside monophosphate phosphorylation, ATP metabolic process, nucleobase-containing small molecule interconversion, pyrimidine ribonucleotide biosynthetic process, nucleoside triphosphate biosynthetic process, nucleoside triphosphate biosynthetic process, dADP biosynthetic process, ADP biosynthetic process, nucleoside diphosphate phosphorylation, nucleoside diphosphate phosphorylation, purine nucleotide metabolic process, 1 7 4 36 21 30 19 8 12 ENSG00000154040 chr18 24138956 24161603 + CABYR protein_coding To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]. 26256 GO:0097229, GO:0097228, GO:0035686, GO:0035686, GO:0031514, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005576, sperm end piece, sperm principal piece, sperm fibrous sheath, sperm fibrous sheath, motile cilium, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, extracellular region, GO:0017124, GO:0005509, GO:0005509, SH3 domain binding, calcium ion binding, calcium ion binding, GO:0048240, GO:0003351, sperm capacitation, epithelial cilium movement involved in extracellular fluid movement, 0 1 0 5 1 0 0 0 4 ENSG00000154059 chr18 24426616 24453535 + IMPACT protein_coding 55364 GO:0005844, GO:0005844, GO:0005737, GO:0005575, polysome, polysome, cytoplasm, cellular_component, GO:1905538, GO:0043022, GO:0005515, GO:0004860, GO:0003779, GO:0003674, polysome binding, ribosome binding, protein binding, protein kinase inhibitor activity, actin binding, molecular_function, GO:1990253, GO:1990138, GO:0097201, GO:0072755, GO:0071494, GO:0071468, GO:0071264, GO:0071264, GO:0070301, GO:0060548, GO:0045666, GO:0042149, GO:0034198, GO:0031953, GO:0031333, GO:0008150, GO:0006469, GO:0001933, GO:0001933, GO:0000122, cellular response to leucine starvation, neuron projection extension, negative regulation of transcription from RNA polymerase II promoter in response to stress, cellular response to benomyl, cellular response to UV-C, cellular response to acidic pH, positive regulation of translational initiation in response to starvation, positive regulation of translational initiation in response to starvation, cellular response to hydrogen peroxide, negative regulation of cell death, positive regulation of neuron differentiation, cellular response to glucose starvation, cellular response to amino acid starvation, negative regulation of protein autophosphorylation, negative regulation of protein-containing complex assembly, biological_process, negative regulation of protein kinase activity, negative regulation of protein phosphorylation, negative regulation of protein phosphorylation, negative regulation of transcription by RNA polymerase II, 22 28 29 23 16 31 44 31 37 ENSG00000154065 chr18 23598926 23662885 - ANKRD29 protein_coding 147463 GO:0005515, protein binding, 0 0 0 0 0 0 1 0 0 ENSG00000154079 chr6 70566917 70589569 + SDHAF4 protein_coding 135154 GO:0005759, GO:0005749, GO:0005739, GO:0005575, mitochondrial matrix, mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrion, cellular_component, GO:0008177, GO:0005515, GO:0003674, succinate dehydrogenase (ubiquinone) activity, protein binding, molecular_function, GO:0045333, GO:0045087, GO:0034553, GO:0034553, cellular respiration, innate immune response, mitochondrial respiratory chain complex II assembly, mitochondrial respiratory chain complex II assembly, 16 4 13 13 6 13 15 10 19 ENSG00000154080 chr18 26906481 27185317 - CHST9 protein_coding The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]. 83539 GO:0016021, GO:0005576, GO:0000139, integral component of membrane, extracellular region, Golgi membrane, GO:0008146, GO:0001537, GO:0001537, sulfotransferase activity, N-acetylgalactosamine 4-O-sulfotransferase activity, N-acetylgalactosamine 4-O-sulfotransferase activity, GO:0042446, GO:0030206, GO:0030203, GO:0030166, GO:0030166, GO:0016051, GO:0006790, hormone biosynthetic process, chondroitin sulfate biosynthetic process, glycosaminoglycan metabolic process, proteoglycan biosynthetic process, proteoglycan biosynthetic process, carbohydrate biosynthetic process, sulfur compound metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000154096 chr11 119417378 119424985 - THY1 protein_coding This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 7070 GO:0070062, GO:0045121, GO:0045121, GO:0032809, GO:0032590, GO:0031362, GO:0030673, GO:0030426, GO:0030425, GO:0016324, GO:0009986, GO:0009897, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005783, GO:0005576, extracellular exosome, membrane raft, membrane raft, neuronal cell body membrane, dendrite membrane, anchored component of external side of plasma membrane, axolemma, growth cone, dendrite, apical plasma membrane, cell surface, external side of plasma membrane, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, extracellular region, GO:0034235, GO:0034235, GO:0019901, GO:0005515, GO:0005178, GO:0005178, GO:0005178, GO:0005096, GO:0005096, GPI anchor binding, GPI anchor binding, protein kinase binding, protein binding, integrin binding, integrin binding, integrin binding, GTPase activator activity, GTPase activator activity, GO:2000298, GO:0098609, GO:0070571, GO:0061099, GO:0051894, GO:0051281, GO:0051281, GO:0050870, GO:0050870, GO:0050860, GO:0050852, GO:0050852, GO:0050771, GO:0050771, GO:0048041, GO:0048041, GO:0046777, GO:0046549, GO:0046549, GO:0043547, GO:0043547, GO:0043113, GO:0034116, GO:0030336, GO:0030336, GO:0007267, GO:0007229, GO:0007010, GO:0007010, GO:0006469, GO:0006469, GO:0002693, GO:0001952, GO:0001525, GO:0001525, regulation of Rho-dependent protein serine/threonine kinase activity, cell-cell adhesion, negative regulation of neuron projection regeneration, negative regulation of protein tyrosine kinase activity, positive regulation of focal adhesion assembly, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of T cell activation, positive regulation of T cell activation, negative regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, negative regulation of axonogenesis, negative regulation of axonogenesis, focal adhesion assembly, focal adhesion assembly, protein autophosphorylation, retinal cone cell development, retinal cone cell development, positive regulation of GTPase activity, positive regulation of GTPase activity, receptor clustering, positive regulation of heterotypic cell-cell adhesion, negative regulation of cell migration, negative regulation of cell migration, cell-cell signaling, integrin-mediated signaling pathway, cytoskeleton organization, cytoskeleton organization, negative regulation of protein kinase activity, negative regulation of protein kinase activity, positive regulation of cellular extravasation, regulation of cell-matrix adhesion, angiogenesis, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000154099 chr16 84145287 84178767 + DNAAF1 protein_coding The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 123872 GO:0016607, GO:0005930, GO:0005930, GO:0005886, GO:0005829, GO:0005737, GO:0005576, GO:0000922, nuclear speck, axoneme, axoneme, plasma membrane, cytosol, cytoplasm, extracellular region, spindle pole, GO:0070840, GO:0070840, dynein complex binding, dynein complex binding, GO:0071910, GO:0071907, GO:0070286, GO:0060972, GO:0060287, GO:0060271, GO:0060271, GO:0044458, GO:0036159, GO:0036158, GO:0035469, GO:0030324, GO:0003356, GO:0003341, GO:0001947, determination of liver left/right asymmetry, determination of digestive tract left/right asymmetry, axonemal dynein complex assembly, left/right pattern formation, epithelial cilium movement involved in determination of left/right asymmetry, cilium assembly, cilium assembly, motile cilium assembly, inner dynein arm assembly, outer dynein arm assembly, determination of pancreatic left/right asymmetry, lung development, regulation of cilium beat frequency, cilium movement, heart looping, 14 18 16 34 31 12 30 22 34 ENSG00000154102 chr16 85690084 85751129 - C16orf74 protein_coding 404550 GO:0005515, protein binding, 23 28 16 20 11 5 13 21 13 ENSG00000154114 chr11 121024072 121090775 + TBCEL protein_coding 219899 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0043014, GO:0005515, alpha-tubulin binding, protein binding, GO:0007023, GO:0007021, GO:0000226, post-chaperonin tubulin folding pathway, tubulin complex assembly, microtubule cytoskeleton organization, 21 17 18 16 14 31 18 10 8 ENSG00000154118 chr16 87601835 87698156 + JPH3 protein_coding Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]. 57338 GO:0030314, GO:0016021, GO:0014701, GO:0005886, GO:0005789, junctional membrane complex, integral component of membrane, junctional sarcoplasmic reticulum membrane, plasma membrane, endoplasmic reticulum membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0060402, GO:0060314, GO:0050885, GO:0048168, GO:0048167, GO:0040011, GO:0035640, GO:0007613, GO:0007612, calcium ion transport into cytosol, regulation of ryanodine-sensitive calcium-release channel activity, neuromuscular process controlling balance, regulation of neuronal synaptic plasticity, regulation of synaptic plasticity, locomotion, exploration behavior, memory, learning, 0 0 0 4 0 5 0 2 0 ENSG00000154122 chr5 14704800 14871785 - ANKH protein_coding This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]. 56172 GO:0019867, GO:0016021, GO:0005887, GO:0005887, GO:0005886, GO:0005886, outer membrane, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0030504, GO:0030504, GO:0030504, GO:0015114, GO:0005315, GO:0005315, inorganic diphosphate transmembrane transporter activity, inorganic diphosphate transmembrane transporter activity, inorganic diphosphate transmembrane transporter activity, phosphate ion transmembrane transporter activity, inorganic phosphate transmembrane transporter activity, inorganic phosphate transmembrane transporter activity, GO:0055085, GO:0035435, GO:0030505, GO:0030500, GO:0030500, GO:0007626, GO:0001501, transmembrane transport, phosphate ion transmembrane transport, inorganic diphosphate transport, regulation of bone mineralization, regulation of bone mineralization, locomotory behavior, skeletal system development, 136 182 168 222 248 231 223 156 184 ENSG00000154124 chr5 14664664 14699711 + OTULIN protein_coding This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]. 90268 GO:0071797, GO:0005829, GO:0005737, GO:0005737, LUBAC complex, cytosol, cytoplasm, cytoplasm, GO:0008234, GO:0005515, GO:0004843, GO:0004843, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1990108, GO:1990108, GO:0070431, GO:0060828, GO:0050728, GO:0050728, GO:0050728, GO:0045087, GO:0045087, GO:0045087, GO:0032088, GO:0032088, GO:0032088, GO:0016567, GO:0016055, GO:0010803, GO:0010803, GO:0010803, GO:0002040, protein linear deubiquitination, protein linear deubiquitination, nucleotide-binding oligomerization domain containing 2 signaling pathway, regulation of canonical Wnt signaling pathway, negative regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of inflammatory response, innate immune response, innate immune response, innate immune response, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, protein ubiquitination, Wnt signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, sprouting angiogenesis, 662 701 859 522 751 721 603 592 563 ENSG00000154127 chr11 122655675 122814473 + UBASH3B protein_coding This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]. 84959 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0051219, GO:0042802, GO:0031625, GO:0005515, GO:0004725, phosphoprotein binding, identical protein binding, ubiquitin protein ligase binding, protein binding, protein tyrosine phosphatase activity, GO:0090331, GO:0070527, GO:0051279, GO:0045779, GO:0045671, GO:0045670, GO:0043393, GO:0038063, GO:0035335, GO:0009968, GO:0006469, negative regulation of platelet aggregation, platelet aggregation, regulation of release of sequestered calcium ion into cytosol, negative regulation of bone resorption, negative regulation of osteoclast differentiation, regulation of osteoclast differentiation, regulation of protein binding, collagen-activated tyrosine kinase receptor signaling pathway, peptidyl-tyrosine dephosphorylation, negative regulation of signal transduction, negative regulation of protein kinase activity, 333 427 460 188 333 287 188 265 255 ENSG00000154133 chr11 124883691 124898500 - ROBO4 protein_coding 54538 GO:0070062, GO:0030424, GO:0016021, GO:0005886, extracellular exosome, axon, integral component of membrane, plasma membrane, GO:0098632, GO:0038023, GO:0005515, cell-cell adhesion mediator activity, signaling receptor activity, protein binding, GO:0070593, GO:0061028, GO:0030334, GO:0007411, GO:0007156, GO:0001525, dendrite self-avoidance, establishment of endothelial barrier, regulation of cell migration, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000154134 chr11 124865386 124881470 + ROBO3 protein_coding This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019]. 64221 GO:0030424, GO:0016021, GO:0005886, GO:0005886, axon, integral component of membrane, plasma membrane, plasma membrane, GO:0098632, GO:0005515, cell-cell adhesion mediator activity, protein binding, GO:0071679, GO:0070593, GO:0061642, GO:0016199, GO:0007411, GO:0007411, GO:0007411, GO:0007156, commissural neuron axon guidance, dendrite self-avoidance, chemoattraction of axon, axon midline choice point recognition, axon guidance, axon guidance, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, 3 14 6 3 12 9 7 6 10 ENSG00000154143 chr11 124611490 124620356 + PANX3 protein_coding The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. [provided by RefSeq, Jul 2008]. 116337 GO:0016021, GO:0005921, GO:0005886, integral component of membrane, gap junction, plasma membrane, GO:0055077, GO:0022829, GO:0005198, gap junction hemi-channel activity, wide pore channel activity, structural molecule activity, GO:0055085, GO:0032732, GO:0007267, GO:0006812, transmembrane transport, positive regulation of interleukin-1 production, cell-cell signaling, cation transport, 0 0 0 0 0 0 0 0 0 ENSG00000154144 chr11 124622836 124635398 + TBRG1 protein_coding 84897 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0005515, protein binding, GO:1990173, GO:0050821, GO:0008285, GO:0007050, GO:0006260, protein localization to nucleoplasm, protein stabilization, negative regulation of cell population proliferation, cell cycle arrest, DNA replication, 418 482 600 482 593 541 410 379 481 ENSG00000154146 chr11 124739846 124747210 + NRGN protein_coding Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008]. 4900 GO:0098978, GO:0045211, GO:0044327, GO:0043025, GO:0031966, GO:0030424, GO:0014069, GO:0012510, GO:0005829, GO:0005634, glutamatergic synapse, postsynaptic membrane, dendritic spine head, neuronal cell body, mitochondrial membrane, axon, postsynaptic density, trans-Golgi network transport vesicle membrane, cytosol, nucleus, GO:0070300, GO:0005547, GO:0005516, phosphatidic acid binding, phosphatidylinositol-3,4,5-trisphosphate binding, calmodulin binding, GO:1900273, GO:0099170, GO:0021537, GO:0008306, GO:0007399, GO:0007165, positive regulation of long-term synaptic potentiation, postsynaptic modulation of chemical synaptic transmission, telencephalon development, associative learning, nervous system development, signal transduction, 30 15 57 42 48 100 19 25 53 ENSG00000154153 chr5 16473038 16617058 - RETREG1 protein_coding The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 54463 GO:0030176, GO:0030176, GO:0016604, GO:0005801, GO:0005783, GO:0005730, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, nuclear body, cis-Golgi network, endoplasmic reticulum, nucleolus, GO:0005515, protein binding, GO:0061709, GO:0061709, GO:0043524, GO:0043524, GO:0019233, reticulophagy, reticulophagy, negative regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, sensory perception of pain, 123 22 98 207 29 117 176 21 62 ENSG00000154162 chr5 21750673 22853622 - CDH12 protein_coding This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]. 1010 GO:0016342, GO:0016021, GO:0005912, GO:0005886, catenin complex, integral component of membrane, adherens junction, plasma membrane, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0034332, GO:0034332, GO:0016339, GO:0007275, GO:0007156, GO:0007043, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, adherens junction organization, adherens junction organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell morphogenesis, 0 0 1 0 0 0 0 0 0 ENSG00000154165 chr3 98531899 98533150 + GPR15 protein_coding This gene encodes a G protein-coupled receptor that acts as a chemokine receptor for human immunodeficiency virus type 1 and 2. The encoded protein localizes to the cell membrane. [provided by RefSeq, Nov 2012]. 2838 GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005768, GO:0005737, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endosome, cytoplasm, GO:0015026, GO:0005515, GO:0004930, GO:0004930, GO:0001618, coreceptor activity, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, virus receptor activity, GO:0072678, GO:0046718, GO:0007186, GO:0007186, GO:0007186, T cell migration, viral entry into host cell, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 18 11 30 6 2 20 8 1 7 ENSG00000154174 chr3 100363431 100401398 - TOMM70 protein_coding This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]. 9868 GO:0070062, GO:0016021, GO:0016020, GO:0005742, GO:0005742, GO:0005741, GO:0005739, extracellular exosome, integral component of membrane, membrane, mitochondrial outer membrane translocase complex, mitochondrial outer membrane translocase complex, mitochondrial outer membrane, mitochondrion, GO:0030943, GO:0008320, GO:0008320, GO:0005515, mitochondrion targeting sequence binding, protein transmembrane transporter activity, protein transmembrane transporter activity, protein binding, GO:0045039, GO:0030150, GO:0016236, GO:0006626, GO:0006626, protein insertion into mitochondrial inner membrane, protein import into mitochondrial matrix, macroautophagy, protein targeting to mitochondrion, protein targeting to mitochondrion, 48 47 100 106 53 150 91 36 106 ENSG00000154175 chr3 100749156 100993515 - ABI3BP protein_coding 25890 GO:0062023, GO:0062023, GO:0005615, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular space, extracellular region, GO:0005201, extracellular matrix structural constituent, 3 9 3 2 7 10 3 4 8 ENSG00000154188 chr8 107249482 107498055 - ANGPT1 protein_coding This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020]. 284 GO:0070062, GO:0062023, GO:0045121, GO:0005902, GO:0005886, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, membrane raft, microvillus, plasma membrane, extracellular space, extracellular space, extracellular region, GO:0030971, GO:0030971, GO:0005102, receptor tyrosine kinase binding, receptor tyrosine kinase binding, signaling receptor binding, GO:2000446, GO:2000352, GO:1905605, GO:0072012, GO:0070374, GO:0051897, GO:0050918, GO:0050900, GO:0050731, GO:0048014, GO:0048014, GO:0045785, GO:0043536, GO:0043524, GO:0043393, GO:0043122, GO:0043116, GO:0043066, GO:0042308, GO:0034394, GO:0033138, GO:0032680, GO:0031589, GO:0031398, GO:0030210, GO:0030154, GO:0030097, GO:0014842, GO:0014068, GO:0010628, GO:0010595, GO:0007171, GO:0007162, GO:0002719, GO:0002092, GO:0002040, GO:0001936, GO:0001934, GO:0001933, GO:0001701, GO:0001525, GO:0000165, regulation of macrophage migration inhibitory factor signaling pathway, negative regulation of endothelial cell apoptotic process, positive regulation of blood-brain barrier permeability, glomerulus vasculature development, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, positive chemotaxis, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, Tie signaling pathway, Tie signaling pathway, positive regulation of cell adhesion, positive regulation of blood vessel endothelial cell migration, negative regulation of neuron apoptotic process, regulation of protein binding, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of vascular permeability, negative regulation of apoptotic process, negative regulation of protein import into nucleus, protein localization to cell surface, positive regulation of peptidyl-serine phosphorylation, regulation of tumor necrosis factor production, cell-substrate adhesion, positive regulation of protein ubiquitination, heparin biosynthetic process, cell differentiation, hemopoiesis, regulation of skeletal muscle satellite cell proliferation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of gene expression, positive regulation of endothelial cell migration, activation of transmembrane receptor protein tyrosine kinase activity, negative regulation of cell adhesion, negative regulation of cytokine production involved in immune response, positive regulation of receptor internalization, sprouting angiogenesis, regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, in utero embryonic development, angiogenesis, MAPK cascade, 60 39 155 37 31 74 41 33 74 ENSG00000154198 chr1 46843095 46900437 - CYP4Z2P transcribed_unprocessed_pseudogene 163720 GO:0016021, integral component of membrane, GO:0020037, GO:0016705, GO:0005506, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, iron ion binding, GO:0055114, oxidation-reduction process, 0 0 0 0 0 0 0 0 0 ENSG00000154217 chr17 67377281 67697261 + PITPNC1 protein_coding This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]. 26207 GO:0005829, GO:0005737, GO:0005737, GO:0005654, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:1990050, GO:1901611, GO:0070300, GO:0035091, GO:0035091, GO:0008526, GO:0008526, GO:0008526, GO:0008525, GO:0005515, phosphatidic acid transfer activity, phosphatidylglycerol binding, phosphatidic acid binding, phosphatidylinositol binding, phosphatidylinositol binding, phosphatidylinositol transfer activity, phosphatidylinositol transfer activity, phosphatidylinositol transfer activity, phosphatidylcholine transporter activity, protein binding, GO:0120009, GO:0015914, GO:0007165, intermembrane lipid transfer, phospholipid transport, signal transduction, 416 347 377 299 239 276 293 263 301 ENSG00000154222 chr1 52345723 52366193 - CC2D1B protein_coding 200014 GO:0043231, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, nucleoplasm, nucleus, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 433 484 519 318 456 336 367 314 328 ENSG00000154227 chr15 100400395 100544995 - CERS3 protein_coding This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 204219 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0050291, GO:0050291, GO:0016410, GO:0005515, GO:0003677, sphingosine N-acyltransferase activity, sphingosine N-acyltransferase activity, N-acyltransferase activity, protein binding, DNA binding, GO:0070268, GO:0046513, GO:0046513, GO:0046513, GO:0030216, GO:0030148, GO:0008544, cornification, ceramide biosynthetic process, ceramide biosynthetic process, ceramide biosynthetic process, keratinocyte differentiation, sphingolipid biosynthetic process, epidermis development, 5 5 9 0 13 3 7 6 5 ENSG00000154229 chr17 66302636 66810743 + PRKCA protein_coding Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]. 5578 GO:0070062, GO:0048471, GO:0035866, GO:0031966, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005783, GO:0005739, GO:0005737, GO:0005654, extracellular exosome, perinuclear region of cytoplasm, alphav-beta3 integrin-PKCalpha complex, mitochondrial membrane, plasma membrane, plasma membrane, cytosol, cytosol, endoplasmic reticulum, mitochondrion, cytoplasm, nucleoplasm, GO:0035403, GO:0019899, GO:0008270, GO:0005524, GO:0005515, GO:0005178, GO:0004698, GO:0004697, GO:0004674, GO:0004674, GO:0004674, GO:0004672, histone kinase activity (H3-T6 specific), enzyme binding, zinc ion binding, ATP binding, protein binding, integrin binding, calcium-dependent protein kinase C activity, protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000707, GO:0106071, GO:0097190, GO:0090330, GO:0070555, GO:0070374, GO:0050796, GO:0045931, GO:0045785, GO:0045780, GO:0045766, GO:0045651, GO:0043536, GO:0043488, GO:0038128, GO:0035556, GO:0035408, GO:0034351, GO:0031666, GO:0030335, GO:0030168, GO:0018107, GO:0018105, GO:0018105, GO:0010613, GO:0010595, GO:0007411, GO:0007155, GO:0007077, GO:0006468, GO:0002159, GO:0001938, GO:0001525, positive regulation of dense core granule biogenesis, positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, apoptotic signaling pathway, regulation of platelet aggregation, response to interleukin-1, positive regulation of ERK1 and ERK2 cascade, regulation of insulin secretion, positive regulation of mitotic cell cycle, positive regulation of cell adhesion, positive regulation of bone resorption, positive regulation of angiogenesis, positive regulation of macrophage differentiation, positive regulation of blood vessel endothelial cell migration, regulation of mRNA stability, ERBB2 signaling pathway, intracellular signal transduction, histone H3-T6 phosphorylation, negative regulation of glial cell apoptotic process, positive regulation of lipopolysaccharide-mediated signaling pathway, positive regulation of cell migration, platelet activation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, positive regulation of cardiac muscle hypertrophy, positive regulation of endothelial cell migration, axon guidance, cell adhesion, mitotic nuclear envelope disassembly, protein phosphorylation, desmosome assembly, positive regulation of endothelial cell proliferation, angiogenesis, 46 34 59 185 42 135 146 38 96 ENSG00000154237 chr15 100919215 101078254 + LRRK1 protein_coding This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]. 79705 GO:0043231, GO:0005829, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, cytosol, mitochondrion, cytoplasm, GO:0106311, GO:0106310, GO:0046872, GO:0042802, GO:0005525, GO:0005524, GO:0005515, GO:0004722, protein threonine kinase activity, protein serine kinase activity, metal ion binding, identical protein binding, GTP binding, ATP binding, protein binding, protein serine/threonine phosphatase activity, GO:1902533, GO:0090263, GO:0090263, GO:0050732, GO:0050731, GO:0045453, GO:0036035, GO:0007165, GO:0006470, GO:0006468, positive regulation of intracellular signal transduction, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, negative regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, bone resorption, osteoclast development, signal transduction, protein dephosphorylation, protein phosphorylation, 534 600 927 331 463 577 373 402 469 ENSG00000154240 chr17 65635538 66192084 - CEP112 protein_coding This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 201134 GO:0060077, GO:0005886, GO:0005813, GO:0005737, inhibitory synapse, plasma membrane, centrosome, cytoplasm, GO:0097120, receptor localization to synapse, 2 0 0 3 0 1 2 0 2 ENSG00000154252 chr2 241776825 241804208 + GAL3ST2 protein_coding This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008]. 64090 GO:0032580, GO:0016021, GO:0016020, Golgi cisterna membrane, integral component of membrane, membrane, GO:0050694, GO:0008146, GO:0008146, GO:0005515, GO:0001733, galactose 3-O-sulfotransferase activity, sulfotransferase activity, sulfotransferase activity, protein binding, galactosylceramide sulfotransferase activity, GO:0009247, GO:0009101, GO:0008150, glycolipid biosynthetic process, glycoprotein biosynthetic process, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000154258 chr17 68974488 69061064 - ABCA9 protein_coding This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]. 10350 GO:0043231, GO:0016021, intracellular membrane-bounded organelle, integral component of membrane, GO:0042626, GO:0005524, GO:0005319, ATPase-coupled transmembrane transporter activity, ATP binding, lipid transporter activity, GO:0055085, GO:0006869, transmembrane transport, lipid transport, 3 2 2 0 0 0 0 0 1 ENSG00000154262 chr17 69078702 69141888 - ABCA6 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]. 23460 GO:0043231, GO:0016021, GO:0005886, GO:0005886, GO:0005654, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0042626, GO:0005524, GO:0005319, ATPase-coupled transmembrane transporter activity, ATP binding, lipid transporter activity, GO:0055085, GO:0006869, transmembrane transport, lipid transport, 2 0 1 3 9 0 0 4 2 ENSG00000154263 chr17 69147214 69244846 - ABCA10 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008]. 10349 GO:0043231, GO:0016021, intracellular membrane-bounded organelle, integral component of membrane, GO:0042626, GO:0016887, GO:0005524, GO:0005319, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, lipid transporter activity, GO:0055085, GO:0006869, transmembrane transport, lipid transport, 0 3 6 9 6 6 17 5 4 ENSG00000154265 chr17 69244311 69327244 - ABCA5 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]. 23461 GO:0043231, GO:0031902, GO:0016021, GO:0005794, GO:0005770, GO:0005770, GO:0005765, GO:0005764, GO:0000139, intracellular membrane-bounded organelle, late endosome membrane, integral component of membrane, Golgi apparatus, late endosome, late endosome, lysosomal membrane, lysosome, Golgi membrane, GO:0042626, GO:0016887, GO:0005524, GO:0005319, GO:0005319, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, lipid transporter activity, lipid transporter activity, GO:0055085, GO:0043691, GO:0034375, GO:0033344, GO:0010745, GO:0006869, transmembrane transport, reverse cholesterol transport, high-density lipoprotein particle remodeling, cholesterol efflux, negative regulation of macrophage derived foam cell differentiation, lipid transport, 155 135 269 296 224 351 284 144 269 ENSG00000154269 chr6 131628442 131747418 + ENPP3 protein_coding The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]. 5169 GO:0070062, GO:0048471, GO:0016324, GO:0016021, GO:0009897, extracellular exosome, perinuclear region of cytoplasm, apical plasma membrane, integral component of membrane, external side of plasma membrane, GO:0047429, GO:0047429, GO:0036218, GO:0035529, GO:0008270, GO:0005509, GO:0004528, GO:0003676, nucleoside-triphosphate diphosphatase activity, nucleoside-triphosphate diphosphatase activity, dTTP diphosphatase activity, NADH pyrophosphatase activity, zinc ion binding, calcium ion binding, phosphodiesterase I activity, nucleic acid binding, GO:0090305, GO:0070667, GO:0050728, GO:0046034, GO:0033007, GO:0030505, GO:0009143, GO:0009143, GO:0006796, GO:0006220, GO:0002276, nucleic acid phosphodiester bond hydrolysis, negative regulation of mast cell proliferation, negative regulation of inflammatory response, ATP metabolic process, negative regulation of mast cell activation involved in immune response, inorganic diphosphate transport, nucleoside triphosphate catabolic process, nucleoside triphosphate catabolic process, phosphate-containing compound metabolic process, pyrimidine nucleotide metabolic process, basophil activation involved in immune response, 0 2 3 2 9 0 5 4 0 ENSG00000154274 chr4 37453941 37623495 + C4orf19 protein_coding 55286 GO:0030054, GO:0005654, cell junction, nucleoplasm, GO:0005515, protein binding, 72 87 61 45 123 118 91 88 82 ENSG00000154277 chr4 41256413 41268455 + UCHL1 protein_coding The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]. 7345 GO:1904115, GO:0044306, GO:0043025, GO:0005886, GO:0005829, GO:0005789, GO:0005737, GO:0005737, GO:0005737, GO:0005737, axon cytoplasm, neuron projection terminus, neuronal cell body, plasma membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, cytoplasm, cytoplasm, cytoplasm, GO:0043130, GO:0031694, GO:0031625, GO:0016874, GO:0008242, GO:0005515, GO:0004843, GO:0004843, GO:0004197, ubiquitin binding, alpha-2A adrenergic receptor binding, ubiquitin protein ligase binding, ligase activity, omega peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0050905, GO:0048747, GO:0043407, GO:0043161, GO:0042755, GO:0035690, GO:0019896, GO:0019233, GO:0016579, GO:0016579, GO:0016579, GO:0016241, GO:0008283, GO:0007628, GO:0007412, GO:0002931, neuromuscular process, muscle fiber development, negative regulation of MAP kinase activity, proteasome-mediated ubiquitin-dependent protein catabolic process, eating behavior, cellular response to drug, axonal transport of mitochondrion, sensory perception of pain, protein deubiquitination, protein deubiquitination, protein deubiquitination, regulation of macroautophagy, cell population proliferation, adult walking behavior, axon target recognition, response to ischemia, 0 0 0 0 0 0 0 0 0 ENSG00000154305 chr1 222618086 222668012 + MIA3 protein_coding 375056 GO:0070971, GO:0070971, GO:0043231, GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0005789, GO:0005788, GO:0000139, endoplasmic reticulum exit site, endoplasmic reticulum exit site, intracellular membrane-bounded organelle, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, Golgi membrane, GO:0038024, GO:0005515, cargo receptor activity, protein binding, GO:2000402, GO:1903038, GO:0140052, GO:0090110, GO:0070973, GO:0044267, GO:0043687, GO:0042953, GO:0042060, GO:0035459, GO:0030336, GO:0015031, GO:0009306, GO:0007162, GO:0007029, GO:0006897, GO:0006888, GO:0006888, GO:0006888, GO:0006887, GO:0002687, GO:0002042, negative regulation of lymphocyte migration, negative regulation of leukocyte cell-cell adhesion, cellular response to oxidised low-density lipoprotein particle stimulus, COPII-coated vesicle cargo loading, protein localization to endoplasmic reticulum exit site, cellular protein metabolic process, post-translational protein modification, lipoprotein transport, wound healing, vesicle cargo loading, negative regulation of cell migration, protein transport, protein secretion, negative regulation of cell adhesion, endoplasmic reticulum organization, endocytosis, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, exocytosis, positive regulation of leukocyte migration, cell migration involved in sprouting angiogenesis, 1125 1142 1345 726 897 819 737 675 680 ENSG00000154309 chr1 222872271 223005995 + DISP1 protein_coding The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]. 84976 GO:0016323, GO:0016021, basolateral plasma membrane, integral component of membrane, GO:1904680, GO:0005515, peptide transmembrane transporter activity, protein binding, GO:0070207, GO:0060539, GO:0050708, GO:0015833, protein homotrimerization, diaphragm development, regulation of protein secretion, peptide transport, 0 0 4 12 2 18 2 3 3 ENSG00000154310 chr3 171061339 171460408 - TNIK protein_coding Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]. 23043 GO:0070062, GO:0055037, GO:0016324, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, recycling endosome, apical plasma membrane, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0072659, GO:0048814, GO:0048812, GO:0046777, GO:0035556, GO:0032147, GO:0031532, GO:0031098, GO:0030033, GO:0023014, GO:0016055, GO:0007256, GO:0007256, GO:0007010, GO:0006468, GO:0001934, GO:0000165, protein localization to plasma membrane, regulation of dendrite morphogenesis, neuron projection morphogenesis, protein autophosphorylation, intracellular signal transduction, activation of protein kinase activity, actin cytoskeleton reorganization, stress-activated protein kinase signaling cascade, microvillus assembly, signal transduction by protein phosphorylation, Wnt signaling pathway, activation of JNKK activity, activation of JNKK activity, cytoskeleton organization, protein phosphorylation, positive regulation of protein phosphorylation, MAPK cascade, 116 111 257 215 91 194 186 63 160 ENSG00000154316 chr8 11339637 11368452 + TDH transcribed_unitary_pseudogene This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq, Jul 2008]. 157739 GO:0005743, mitochondrial inner membrane, GO:0008743, L-threonine 3-dehydrogenase activity, GO:0055114, GO:0019518, GO:0006567, oxidation-reduction process, L-threonine catabolic process to glycine, threonine catabolic process, 0 1 0 3 1 3 0 1 0 ENSG00000154319 chr8 11421463 11475908 - FAM167A protein_coding 83648 GO:0005515, protein binding, 0 2 0 1 3 2 0 0 0 ENSG00000154328 chr8 11769639 11787346 + NEIL2 protein_coding This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]. 252969 GO:0043231, GO:0005876, GO:0005737, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, spindle microtubule, cytoplasm, nucleoplasm, nucleoplasm, GO:0140078, GO:0019104, GO:0019104, GO:0008270, GO:0008017, GO:0005515, GO:0003906, GO:0003684, class I DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA N-glycosylase activity, DNA N-glycosylase activity, zinc ion binding, microtubule binding, protein binding, DNA-(apurinic or apyrimidinic site) endonuclease activity, damaged DNA binding, GO:0045008, GO:0006289, GO:0006284, depyrimidination, nucleotide-excision repair, base-excision repair, 10 13 13 25 19 37 29 20 9 ENSG00000154330 chr9 68328308 68531061 + PGM5 protein_coding Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]. 5239 GO:0043034, GO:0042383, GO:0042383, GO:0030055, GO:0030018, GO:0016010, GO:0014704, GO:0009898, GO:0005925, GO:0005914, GO:0005912, GO:0005912, GO:0005829, GO:0001725, costamere, sarcolemma, sarcolemma, cell-substrate junction, Z disc, dystrophin-associated glycoprotein complex, intercalated disc, cytoplasmic side of plasma membrane, focal adhesion, spot adherens junction, adherens junction, adherens junction, cytosol, stress fiber, GO:0005198, GO:0004614, GO:0004614, GO:0000287, structural molecule activity, phosphoglucomutase activity, phosphoglucomutase activity, magnesium ion binding, GO:0030239, GO:0014706, GO:0007155, GO:0006006, GO:0005975, myofibril assembly, striated muscle tissue development, cell adhesion, glucose metabolic process, carbohydrate metabolic process, 130 96 45 46 61 35 44 74 9 ENSG00000154342 chr1 228007051 228061260 + WNT3A protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq, Jul 2008]. 89780 GO:1990851, GO:0098978, GO:0098978, GO:0098793, GO:0070062, GO:0031901, GO:0030666, GO:0009986, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, Wnt-Frizzled-LRP5/6 complex, glutamatergic synapse, glutamatergic synapse, presynapse, extracellular exosome, early endosome membrane, endocytic vesicle membrane, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0048018, GO:0039706, GO:0019904, GO:0005515, GO:0005125, GO:0005109, GO:0005102, GO:0003713, receptor ligand activity, co-receptor binding, protein domain specific binding, protein binding, cytokine activity, frizzled binding, signaling receptor binding, transcription coactivator activity, GO:2000727, GO:2000347, GO:2000179, GO:2000081, GO:2000049, GO:1905606, GO:1905606, GO:1904953, GO:1904886, GO:1904798, GO:1904339, GO:1903078, GO:1901215, GO:0099527, GO:0099054, GO:0090676, GO:0090263, GO:0090245, GO:0071300, GO:0070527, GO:0070507, GO:0062009, GO:0061317, GO:0061184, GO:0061098, GO:0060070, GO:0060070, GO:0060070, GO:0051091, GO:0050807, GO:0050807, GO:0050804, GO:0050768, GO:0048843, GO:0048697, GO:0048643, GO:0048343, GO:0048337, GO:0048103, GO:0045944, GO:0045944, GO:0045893, GO:0045599, GO:0045165, GO:0043280, GO:0042472, GO:0036465, GO:0036342, GO:0035914, GO:0034613, GO:0033278, GO:0033138, GO:0032092, GO:0030890, GO:0030879, GO:0030198, GO:0030182, GO:0030182, GO:0030097, GO:0021904, GO:0021874, GO:0021846, GO:0021766, GO:0021527, GO:0016055, GO:0010977, GO:0010628, GO:0010387, GO:0008284, GO:0008283, GO:0007411, GO:0003136, GO:0002092, GO:0001947, GO:0001934, GO:0001819, GO:0001701, GO:0001649, positive regulation of cardiac muscle cell differentiation, positive regulation of hepatocyte proliferation, positive regulation of neural precursor cell proliferation, positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation, positive regulation of cell-cell adhesion mediated by cadherin, regulation of presynapse assembly, regulation of presynapse assembly, Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, beta-catenin destruction complex disassembly, positive regulation of core promoter binding, negative regulation of dopaminergic neuron differentiation, positive regulation of protein localization to plasma membrane, negative regulation of neuron death, postsynapse to nucleus signaling pathway, presynapse assembly, calcium ion transmembrane transport via low voltage-gated calcium channel, positive regulation of canonical Wnt signaling pathway, axis elongation involved in somitogenesis, cellular response to retinoic acid, platelet aggregation, regulation of microtubule cytoskeleton organization, secondary palate development, canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment, positive regulation of dermatome development, positive regulation of protein tyrosine kinase activity, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of DNA-binding transcription factor activity, regulation of synapse organization, regulation of synapse organization, modulation of chemical synaptic transmission, negative regulation of neurogenesis, negative regulation of axon extension involved in axon guidance, positive regulation of collateral sprouting in absence of injury, positive regulation of skeletal muscle tissue development, paraxial mesodermal cell fate commitment, positive regulation of mesodermal cell fate specification, somatic stem cell division, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of fat cell differentiation, cell fate commitment, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, inner ear morphogenesis, synaptic vesicle recycling, post-anal tail morphogenesis, skeletal muscle cell differentiation, cellular protein localization, cell proliferation in midbrain, positive regulation of peptidyl-serine phosphorylation, positive regulation of protein binding, positive regulation of B cell proliferation, mammary gland development, extracellular matrix organization, neuron differentiation, neuron differentiation, hemopoiesis, dorsal/ventral neural tube patterning, Wnt signaling pathway involved in forebrain neuroblast division, cell proliferation in forebrain, hippocampus development, spinal cord association neuron differentiation, Wnt signaling pathway, negative regulation of neuron projection development, positive regulation of gene expression, COP9 signalosome assembly, positive regulation of cell population proliferation, cell population proliferation, axon guidance, negative regulation of heart induction by canonical Wnt signaling pathway, positive regulation of receptor internalization, heart looping, positive regulation of protein phosphorylation, positive regulation of cytokine production, in utero embryonic development, osteoblast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000154358 chr1 228208130 228378874 + OBSCN protein_coding The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 84033 GO:0042383, GO:0031430, GO:0030018, GO:0030016, GO:0016604, GO:0005911, GO:0005887, GO:0005886, GO:0005829, GO:0005829, sarcolemma, M band, Z disc, myofibril, nuclear body, cell-cell junction, integral component of plasma membrane, plasma membrane, cytosol, cytosol, GO:0106311, GO:0106310, GO:0070273, GO:0050839, GO:0046872, GO:0043325, GO:0032266, GO:0031432, GO:0030506, GO:0010314, GO:0008307, GO:0005547, GO:0005546, GO:0005524, GO:0005516, GO:0005515, GO:0005085, protein threonine kinase activity, protein serine kinase activity, phosphatidylinositol-4-phosphate binding, cell adhesion molecule binding, metal ion binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, titin binding, ankyrin binding, phosphatidylinositol-5-phosphate binding, structural constituent of muscle, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, ATP binding, calmodulin binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0098609, GO:0051056, GO:0045214, GO:0043065, GO:0036309, GO:0007275, GO:0007186, GO:0006468, cell-cell adhesion, regulation of small GTPase mediated signal transduction, sarcomere organization, positive regulation of apoptotic process, protein localization to M-band, multicellular organism development, G protein-coupled receptor signaling pathway, protein phosphorylation, 74 36 150 178 8 143 169 32 85 ENSG00000154359 chr8 12721894 12756073 - LONRF1 protein_coding 91694 GO:0005829, cytosol, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0000209, protein polyubiquitination, 1280 1142 1754 379 606 640 415 419 639 ENSG00000154370 chr1 228393673 228406840 - TRIM11 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nucleus and the cytoplasm. Its function has not been identified. [provided by RefSeq, Jul 2008]. 81559 GO:0005829, GO:0005737, GO:0005737, GO:0005654, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0061630, GO:0019904, GO:0008270, GO:0008134, GO:0005515, ubiquitin protein ligase activity, protein domain specific binding, zinc ion binding, transcription factor binding, protein binding, GO:1902187, GO:1902187, GO:0051607, GO:0050768, GO:0046598, GO:0046597, GO:0045892, GO:0045087, GO:0045087, GO:0032897, GO:0016567, GO:0016567, GO:0010468, negative regulation of viral release from host cell, negative regulation of viral release from host cell, defense response to virus, negative regulation of neurogenesis, positive regulation of viral entry into host cell, negative regulation of viral entry into host cell, negative regulation of transcription, DNA-templated, innate immune response, innate immune response, negative regulation of viral transcription, protein ubiquitination, protein ubiquitination, regulation of gene expression, 455 540 561 477 751 601 554 543 445 ENSG00000154380 chr1 225486835 225653142 - ENAH protein_coding This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]. 55740 GO:0045202, GO:0030175, GO:0030054, GO:0030027, GO:0005925, GO:0005925, GO:0005886, GO:0005856, GO:0005829, GO:0005829, synapse, filopodium, cell junction, lamellipodium, focal adhesion, focal adhesion, plasma membrane, cytoskeleton, cytosol, cytosol, GO:0050699, GO:0017124, GO:0005522, GO:0005515, GO:0003779, WW domain binding, SH3 domain binding, profilin binding, protein binding, actin binding, GO:0070358, GO:0008154, GO:0007411, GO:0007411, actin polymerization-dependent cell motility, actin polymerization or depolymerization, axon guidance, axon guidance, 0 0 0 0 0 0 0 0 0 ENSG00000154415 chr7 113876777 114075920 - PPP1R3A protein_coding The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]. 5506 GO:0016021, GO:0000164, integral component of membrane, protein phosphatase type 1 complex, GO:2001069, GO:0008157, glycogen binding, protein phosphatase 1 binding, GO:0005979, GO:0005977, regulation of glycogen biosynthetic process, glycogen metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000154429 chr1 229321005 229343294 - CCSAP protein_coding 126731 GO:0072686, GO:0061673, GO:0036064, GO:0036064, GO:0035869, GO:0035869, GO:0030424, GO:0030424, GO:0005930, GO:0005930, GO:0005929, GO:0005819, GO:0005819, GO:0005814, GO:0005814, GO:0005813, mitotic spindle, mitotic spindle astral microtubule, ciliary basal body, ciliary basal body, ciliary transition zone, ciliary transition zone, axon, axon, axoneme, axoneme, cilium, spindle, spindle, centriole, centriole, centrosome, GO:0008017, GO:0008017, microtubule binding, microtubule binding, GO:1990755, GO:1901673, GO:1901673, GO:0060296, GO:0051301, GO:0045995, GO:0007275, GO:0007049, mitotic spindle microtubule depolymerization, regulation of mitotic spindle assembly, regulation of mitotic spindle assembly, regulation of cilium beat frequency involved in ciliary motility, cell division, regulation of embryonic development, multicellular organism development, cell cycle, 511 578 589 277 362 382 322 310 309 ENSG00000154438 chr7 117363222 117428123 - ASZ1 protein_coding 136991 GO:0071546, GO:0071546, GO:0005737, pi-body, pi-body, cytoplasm, GO:0005515, protein binding, GO:0043046, GO:0034587, GO:0034587, GO:0031047, GO:0030154, GO:0007283, GO:0007275, GO:0007140, DNA methylation involved in gamete generation, piRNA metabolic process, piRNA metabolic process, gene silencing by RNA, cell differentiation, spermatogenesis, multicellular organism development, male meiotic nuclear division, 0 0 0 0 0 0 0 0 0 ENSG00000154447 chr4 169094256 169271105 - SH3RF1 protein_coding This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]. 57630 GO:0048471, GO:0030027, GO:0005829, GO:0005794, perinuclear region of cytoplasm, lamellipodium, cytosol, Golgi apparatus, GO:0061630, GO:0046872, GO:0005515, GO:0005078, ubiquitin protein ligase activity, metal ion binding, protein binding, MAP-kinase scaffold activity, GO:2001237, GO:2000564, GO:0051865, GO:0046330, GO:0043370, GO:0043154, GO:0043066, GO:0016032, GO:0006915, GO:0001764, negative regulation of extrinsic apoptotic signaling pathway, regulation of CD8-positive, alpha-beta T cell proliferation, protein autoubiquitination, positive regulation of JNK cascade, regulation of CD4-positive, alpha-beta T cell differentiation, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, viral process, apoptotic process, neuron migration, 4 6 6 1 13 3 10 10 2 ENSG00000154451 chr1 89258950 89272804 - GBP5 protein_coding This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]. 115362 GO:0048471, GO:0031410, GO:0016020, GO:0005794, GO:0005737, GO:0000139, perinuclear region of cytoplasm, cytoplasmic vesicle, membrane, Golgi apparatus, cytoplasm, Golgi membrane, GO:0042803, GO:0042802, GO:0005525, GO:0005515, GO:0003924, protein homodimerization activity, identical protein binding, GTP binding, protein binding, GTPase activity, GO:1900227, GO:1900017, GO:0071346, GO:0071346, GO:0051289, GO:0045089, GO:0034067, GO:0032621, GO:0032611, GO:0009617, GO:0006954, positive regulation of NLRP3 inflammasome complex assembly, positive regulation of cytokine production involved in inflammatory response, cellular response to interferon-gamma, cellular response to interferon-gamma, protein homotetramerization, positive regulation of innate immune response, protein localization to Golgi apparatus, interleukin-18 production, interleukin-1 beta production, response to bacterium, inflammatory response, 2671 3126 5169 2285 3226 4860 2347 2562 3913 ENSG00000154473 chr10 123154277 123170467 + BUB3 protein_coding This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 9184 GO:1990298, GO:0033597, GO:0005829, GO:0005654, GO:0000777, GO:0000776, GO:0000776, bub1-bub3 complex, mitotic checkpoint complex, cytosol, nucleoplasm, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0043130, GO:0005515, ubiquitin binding, protein binding, GO:1901990, GO:0051321, GO:0051301, GO:0034501, GO:0031145, GO:0008608, GO:0007094, GO:0006511, GO:0000070, regulation of mitotic cell cycle phase transition, meiotic cell cycle, cell division, protein localization to kinetochore, anaphase-promoting complex-dependent catabolic process, attachment of spindle microtubules to kinetochore, mitotic spindle assembly checkpoint, ubiquitin-dependent protein catabolic process, mitotic sister chromatid segregation, 219 228 278 283 232 349 224 221 270 ENSG00000154478 chr10 123666355 123694607 + GPR26 protein_coding This gene encodes a G protein-couple receptor protein. G-protein-coupled receptors are a large family of membrane proteins that are involved in cellular responses to environmental stimuli, neurotransmitters, and hormones. The encoded protein may play a role in neurodegenerative diseases. Epigenetic silencing of this gene has been observed in gliomas. [provided by RefSeq, Sep 2016]. 2849 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, GO:0004930, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0007189, GO:0007189, GO:0007186, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000154479 chr2 169645425 169694433 - CCDC173 protein_coding 129881 7 4 9 0 2 3 11 1 13 ENSG00000154485 chr10 125766453 125775821 - MMP21 protein_coding This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013]. 118856 GO:0031012, GO:0005615, extracellular matrix, extracellular space, GO:0008270, GO:0004222, zinc ion binding, metalloendopeptidase activity, GO:0061371, GO:0060976, GO:0030574, GO:0030198, GO:0007368, GO:0006508, GO:0002244, determination of heart left/right asymmetry, coronary vasculature development, collagen catabolic process, extracellular matrix organization, determination of left/right symmetry, proteolysis, hematopoietic progenitor cell differentiation, 0 0 0 2 1 0 2 0 0 ENSG00000154493 chr10 126424997 126670446 - C10orf90 protein_coding 118611 GO:0015629, GO:0005886, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005654, actin cytoskeleton, plasma membrane, cytosol, cytosol, centriole, centrosome, centrosome, cytoplasm, nucleoplasm, GO:0061630, GO:0008017, ubiquitin protein ligase activity, microtubule binding, GO:0050821, GO:0046599, GO:0016567, GO:0000209, protein stabilization, regulation of centriole replication, protein ubiquitination, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000154511 chr1 92832737 92961522 - FAM69A protein_coding This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 388650 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, 19 10 43 39 13 35 41 14 27 ENSG00000154518 chr2 175176258 175184607 - ATP5MC3 protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]. 518 GO:0045263, GO:0016021, GO:0005741, GO:0000276, proton-transporting ATP synthase complex, coupling factor F(o), integral component of membrane, mitochondrial outer membrane, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, GO:0008289, proton-transporting ATP synthase activity, rotational mechanism, lipid binding, GO:0042776, GO:0042407, GO:0015986, GO:0006754, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, ATP biosynthetic process, 49 51 66 113 48 113 60 49 74 ENSG00000154529 chr9 41890314 42129510 - CNTNAP3B protein_coding 728577 GO:0016021, integral component of membrane, GO:0007155, cell adhesion, 5 5 10 1 12 11 8 9 6 ENSG00000154537 chr9 61854162 61855331 + FAM27C lincRNA 4 1 5 3 1 0 3 2 0 ENSG00000154545 chrX 52184823 52192268 + MAGED4 protein_coding 728239 GO:0005575, cellular_component, GO:0005515, protein binding, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000154548 chr6 89095959 89118081 - SRSF12 protein_coding 135295 GO:0016607, GO:0005737, GO:0005654, nuclear speck, cytoplasm, nucleoplasm, GO:0051082, GO:0050733, GO:0003723, GO:0003723, GO:0003723, unfolded protein binding, RS domain binding, RNA binding, RNA binding, RNA binding, GO:0048025, GO:0045292, GO:0000395, GO:0000381, GO:0000381, GO:0000244, negative regulation of mRNA splicing, via spliceosome, mRNA cis splicing, via spliceosome, mRNA 5'-splice site recognition, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, spliceosomal tri-snRNP complex assembly, 19 20 14 10 46 30 10 15 10 ENSG00000154553 chr4 185500660 185535612 - PDLIM3 protein_coding The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]. 27295 GO:0031941, GO:0030018, GO:0005912, GO:0005829, GO:0001725, filamentous actin, Z disc, adherens junction, cytosol, stress fiber, GO:0051371, GO:0046872, GO:0008307, GO:0005515, GO:0003779, muscle alpha-actinin binding, metal ion binding, structural constituent of muscle, protein binding, actin binding, GO:0061061, GO:0030036, GO:0007507, GO:0007015, muscle structure development, actin cytoskeleton organization, heart development, actin filament organization, 0 0 0 0 0 0 0 0 0 ENSG00000154556 chr4 185585444 185956652 - SORBS2 protein_coding Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 8470 GO:0048471, GO:0030027, GO:0030018, GO:0016324, GO:0015629, GO:0005925, GO:0005886, GO:0005634, perinuclear region of cytoplasm, lamellipodium, Z disc, apical plasma membrane, actin cytoskeleton, focal adhesion, plasma membrane, nucleus, GO:0008307, GO:0008093, GO:0005515, GO:0005200, GO:0003723, structural constituent of muscle, cytoskeletal anchor activity, protein binding, structural constituent of cytoskeleton, RNA binding, GO:0061049, GO:0008150, GO:0007219, GO:0007015, cell growth involved in cardiac muscle cell development, biological_process, Notch signaling pathway, actin filament organization, 1 0 0 1 0 0 3 0 0 ENSG00000154582 chr8 73939169 73972287 - ELOC protein_coding This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]. 6921 GO:0070449, GO:0005829, GO:0005654, elongin complex, cytosol, nucleoplasm, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0061418, GO:0043687, GO:0032968, GO:0016567, GO:0016032, GO:0006511, GO:0006368, GO:0006366, GO:0006357, regulation of transcription from RNA polymerase II promoter in response to hypoxia, post-translational protein modification, positive regulation of transcription elongation from RNA polymerase II promoter, protein ubiquitination, viral process, ubiquitin-dependent protein catabolic process, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 207 154 174 169 249 153 175 219 157 ENSG00000154589 chr8 73991352 74029087 + LY96 protein_coding This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010]. 23643 GO:0046696, GO:0046696, GO:0031226, GO:0010008, GO:0005886, GO:0005615, lipopolysaccharide receptor complex, lipopolysaccharide receptor complex, intrinsic component of plasma membrane, endosome membrane, plasma membrane, extracellular space, GO:0035662, GO:0015026, GO:0005515, GO:0001875, GO:0001875, GO:0001530, Toll-like receptor 4 binding, coreceptor activity, protein binding, lipopolysaccharide immune receptor activity, lipopolysaccharide immune receptor activity, lipopolysaccharide binding, GO:0097190, GO:0071222, GO:0070266, GO:0045087, GO:0035666, GO:0034142, GO:0034142, GO:0034142, GO:0034128, GO:0032760, GO:0032497, GO:0032497, GO:0032496, GO:0031666, GO:0031663, GO:0007249, GO:0007166, GO:0006968, GO:0006954, GO:0002756, GO:0002755, GO:0002224, apoptotic signaling pathway, cellular response to lipopolysaccharide, necroptotic process, innate immune response, TRIF-dependent toll-like receptor signaling pathway, toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, negative regulation of MyD88-independent toll-like receptor signaling pathway, positive regulation of tumor necrosis factor production, detection of lipopolysaccharide, detection of lipopolysaccharide, response to lipopolysaccharide, positive regulation of lipopolysaccharide-mediated signaling pathway, lipopolysaccharide-mediated signaling pathway, I-kappaB kinase/NF-kappaB signaling, cell surface receptor signaling pathway, cellular defense response, inflammatory response, MyD88-independent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, 650 791 834 322 871 516 408 854 530 ENSG00000154608 chr4 118467590 118554100 + CEP170P1 transcribed_unprocessed_pseudogene 13 19 8 8 11 8 2 9 13 ENSG00000154611 chr18 26133852 26193355 + PSMA8 protein_coding 143471 GO:1990111, GO:0070062, GO:0019773, GO:0019773, GO:0005839, GO:0005829, GO:0005737, GO:0005634, GO:0005634, spermatoproteasome complex, extracellular exosome, proteasome core complex, alpha-subunit complex, proteasome core complex, alpha-subunit complex, proteasome core complex, cytosol, cytoplasm, nucleus, nucleus, GO:0004175, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060631, GO:0060071, GO:0055085, GO:0051321, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0030154, GO:0016579, GO:0010972, GO:0010499, GO:0007283, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of meiosis I, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, meiotic cell cycle, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, cell differentiation, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, spermatogenesis, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 0 0 0 0 0 5 0 2 4 ENSG00000154620 chrY 13703567 13706024 + TMSB4Y protein_coding This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq, Jul 2008]. 9087 GO:0005856, GO:0005829, GO:0005737, GO:0005634, cytoskeleton, cytosol, cytoplasm, nucleus, GO:0005515, GO:0003785, protein binding, actin monomer binding, GO:0042989, GO:0030334, GO:0008064, GO:0007015, sequestering of actin monomers, regulation of cell migration, regulation of actin polymerization or depolymerization, actin filament organization, 0 0 1 10 2 9 3 0 0 ENSG00000154639 chr21 17512382 17593579 + CXADR protein_coding The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]. 1525 GO:0045121, GO:0044297, GO:0043005, GO:0032991, GO:0030426, GO:0030175, GO:0030054, GO:0016327, GO:0016323, GO:0014704, GO:0005923, GO:0005912, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005654, GO:0005576, GO:0001669, membrane raft, cell body, neuron projection, protein-containing complex, growth cone, filopodium, cell junction, apicolateral plasma membrane, basolateral plasma membrane, intercalated disc, bicellular tight junction, adherens junction, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleoplasm, extracellular region, acrosomal vesicle, GO:0086082, GO:0071253, GO:0050839, GO:0030165, GO:0008013, GO:0005515, GO:0005178, GO:0001618, cell adhesive protein binding involved in AV node cell-bundle of His cell communication, connexin binding, cell adhesion molecule binding, PDZ domain binding, beta-catenin binding, protein binding, integrin binding, virus receptor activity, GO:0098904, GO:0086072, GO:0086067, GO:0070633, GO:0060044, GO:0050900, GO:0050776, GO:0048739, GO:0046718, GO:0046629, GO:0045216, GO:0031532, GO:0030593, GO:0010669, GO:0008354, GO:0007507, GO:0007157, GO:0007005, regulation of AV node cell action potential, AV node cell-bundle of His cell adhesion involved in cell communication, AV node cell to bundle of His cell communication, transepithelial transport, negative regulation of cardiac muscle cell proliferation, leukocyte migration, regulation of immune response, cardiac muscle fiber development, viral entry into host cell, gamma-delta T cell activation, cell-cell junction organization, actin cytoskeleton reorganization, neutrophil chemotaxis, epithelial structure maintenance, germ cell migration, heart development, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, mitochondrion organization, 0 0 0 1 3 0 1 0 1 ENSG00000154640 chr21 17593653 17612947 - BTG3 protein_coding The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 10950 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0005515, protein binding, GO:0045930, GO:0045930, GO:0008285, negative regulation of mitotic cell cycle, negative regulation of mitotic cell cycle, negative regulation of cell population proliferation, 21 3 41 66 22 72 72 18 37 ENSG00000154642 chr21 17788967 17819386 - C21orf91 protein_coding 54149 GO:0060999, GO:0021895, positive regulation of dendritic spine development, cerebral cortex neuron differentiation, 344 229 750 185 118 225 202 107 212 ENSG00000154645 chr21 17901263 18267373 + CHODL protein_coding This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 140578 GO:0048471, GO:0016021, GO:0005789, GO:0005737, GO:0005737, perinuclear region of cytoplasm, integral component of membrane, endoplasmic reticulum membrane, cytoplasm, cytoplasm, GO:0030246, GO:0005540, GO:0005515, carbohydrate binding, hyaluronic acid binding, protein binding, GO:0050772, GO:0007517, positive regulation of axonogenesis, muscle organ development, 0 1 0 1 0 5 0 0 0 ENSG00000154646 chr21 18269116 18485879 - TMPRSS15 protein_coding This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]. 5651 GO:0016021, GO:0016020, GO:0005903, integral component of membrane, membrane, brush border, GO:0005515, GO:0005044, GO:0004252, protein binding, scavenger receptor activity, serine-type endopeptidase activity, GO:0006897, GO:0006508, endocytosis, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000154654 chr21 20998315 21543329 + NCAM2 protein_coding The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008]. 4685 GO:0043005, GO:0030424, GO:0016604, GO:0016021, GO:0005886, neuron projection, axon, nuclear body, integral component of membrane, plasma membrane, GO:0042802, identical protein binding, GO:0007158, neuron cell-cell adhesion, 0 0 0 0 1 0 0 0 0 ENSG00000154655 chr18 5954706 6415237 - L3MBTL4 protein_coding 91133 GO:0005634, nucleus, GO:0042393, GO:0008270, GO:0005515, GO:0003682, histone binding, zinc ion binding, protein binding, chromatin binding, GO:0045892, GO:0006325, negative regulation of transcription, DNA-templated, chromatin organization, 1 0 2 0 0 7 6 1 0 ENSG00000154678 chr7 31751179 32299329 - PDE1C protein_coding This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]. 5137 GO:0043025, GO:0005829, neuronal cell body, cytosol, GO:0048101, GO:0046872, GO:0005516, GO:0004117, GO:0004114, calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, calmodulin binding, calmodulin-dependent cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0007165, signal transduction, 0 6 1 6 0 3 0 4 4 ENSG00000154710 chr7 66682164 66811464 + RABGEF1 protein_coding RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]. 27342 GO:0055037, GO:0031901, GO:0005829, GO:0005829, GO:0005769, GO:0005730, recycling endosome, early endosome membrane, cytosol, cytosol, early endosome, nucleolus, GO:0061630, GO:0031267, GO:0008270, GO:0005515, GO:0005085, GO:0005085, GO:0003677, ubiquitin protein ligase activity, small GTPase binding, zinc ion binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, DNA binding, GO:1900235, GO:0060368, GO:0050728, GO:0048261, GO:0046580, GO:0043305, GO:0032715, GO:0016567, GO:0006897, GO:0006612, GO:0002686, GO:0001933, negative regulation of Kit signaling pathway, regulation of Fc receptor mediated stimulatory signaling pathway, negative regulation of inflammatory response, negative regulation of receptor-mediated endocytosis, negative regulation of Ras protein signal transduction, negative regulation of mast cell degranulation, negative regulation of interleukin-6 production, protein ubiquitination, endocytosis, protein targeting to membrane, negative regulation of leukocyte migration, negative regulation of protein phosphorylation, 246 190 283 323 306 432 303 227 266 ENSG00000154719 chr21 25585656 25607517 - MRPL39 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]. 54148 GO:0005762, GO:0005761, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003723, GO:0000166, RNA binding, nucleotide binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 6 9 14 30 2 31 26 6 25 ENSG00000154721 chr21 25639272 25717562 + JAM2 protein_coding This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]. 58494 GO:0098636, GO:0070160, GO:0044291, GO:0036477, GO:0009986, GO:0005923, GO:0005887, GO:0005887, GO:0005886, GO:0005886, protein complex involved in cell adhesion, tight junction, cell-cell contact zone, somatodendritic compartment, cell surface, bicellular tight junction, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005178, protein binding, integrin binding, GO:2000403, GO:0098609, GO:0098609, GO:0097241, GO:0071593, GO:0050901, GO:0050900, GO:0045123, GO:0035633, GO:0031642, GO:0030198, GO:0007520, GO:0007286, GO:0007162, positive regulation of lymphocyte migration, cell-cell adhesion, cell-cell adhesion, hematopoietic stem cell migration to bone marrow, lymphocyte aggregation, leukocyte tethering or rolling, leukocyte migration, cellular extravasation, maintenance of blood-brain barrier, negative regulation of myelination, extracellular matrix organization, myoblast fusion, spermatid development, negative regulation of cell adhesion, 1 0 0 0 0 3 0 1 7 ENSG00000154723 chr21 25716503 25735673 - ATP5PF protein_coding Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]. 522 GO:0009986, GO:0005753, GO:0005753, GO:0005743, GO:0005739, GO:0005739, GO:0005615, GO:0000276, cell surface, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrion, extracellular space, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, GO:0044877, GO:0016887, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, protein-containing complex binding, ATPase activity, protein binding, GO:1900139, GO:0045777, GO:0042776, GO:0042776, GO:0042407, GO:0032307, GO:0021762, GO:0014850, GO:0010460, GO:0006754, negative regulation of arachidonic acid secretion, positive regulation of blood pressure, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, negative regulation of prostaglandin secretion, substantia nigra development, response to muscle activity, positive regulation of heart rate, ATP biosynthetic process, 171 123 176 76 143 130 95 115 99 ENSG00000154727 chr21 25734570 25772460 + GABPA protein_coding This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]. 2551 GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0033613, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, activating transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1903351, GO:0045944, GO:0045653, GO:0030154, GO:0010628, GO:0007005, GO:0006357, GO:0001825, GO:0000122, cellular response to dopamine, positive regulation of transcription by RNA polymerase II, negative regulation of megakaryocyte differentiation, cell differentiation, positive regulation of gene expression, mitochondrion organization, regulation of transcription by RNA polymerase II, blastocyst formation, negative regulation of transcription by RNA polymerase II, 468 475 612 210 381 429 265 312 281 ENSG00000154734 chr21 26835747 26845409 - ADAMTS1 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]. 9510 GO:0062023, GO:0031410, GO:0031012, GO:0005604, collagen-containing extracellular matrix, cytoplasmic vesicle, extracellular matrix, basement membrane, GO:0008270, GO:0008237, GO:0008201, GO:0005515, GO:0004222, GO:0004222, zinc ion binding, metallopeptidase activity, heparin binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:1904754, GO:1904707, GO:1900087, GO:0060347, GO:0030198, GO:0016525, GO:0008285, GO:0007229, GO:0006508, GO:0001822, GO:0001542, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of G1/S transition of mitotic cell cycle, heart trabecula formation, extracellular matrix organization, negative regulation of angiogenesis, negative regulation of cell population proliferation, integrin-mediated signaling pathway, proteolysis, kidney development, ovulation from ovarian follicle, 0 0 2 9 4 7 13 4 1 ENSG00000154736 chr21 26917912 26966513 - ADAMTS5 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]. 11096 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0050840, GO:0008270, GO:0008237, GO:0008233, GO:0008201, GO:0005515, GO:0005178, GO:0004222, extracellular matrix binding, zinc ion binding, metallopeptidase activity, peptidase activity, heparin binding, protein binding, integrin binding, metalloendopeptidase activity, GO:0120163, GO:0044691, GO:0042742, GO:0030198, GO:0022617, GO:0006508, negative regulation of cold-induced thermogenesis, tooth eruption, defense response to bacterium, extracellular matrix organization, extracellular matrix disassembly, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000154743 chr3 12484432 12539623 + TSEN2 protein_coding This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]. 80746 GO:0005829, GO:0005813, GO:0005730, GO:0005654, GO:0005654, GO:0000214, cytosol, centrosome, nucleolus, nucleoplasm, nucleoplasm, tRNA-intron endonuclease complex, GO:0016829, GO:0005515, GO:0003676, GO:0000213, lyase activity, protein binding, nucleic acid binding, tRNA-intron endonuclease activity, GO:0090502, GO:0006397, GO:0006388, GO:0006388, GO:0000379, RNA phosphodiester bond hydrolysis, endonucleolytic, mRNA processing, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA-type intron splice site recognition and cleavage, 7 2 6 20 5 18 18 4 18 ENSG00000154760 chr17 35435096 35448837 - SLFN13 protein_coding 146857 GO:0005737, cytoplasm, GO:0008270, GO:0005524, GO:0004521, GO:0000049, zinc ion binding, ATP binding, endoribonuclease activity, tRNA binding, GO:0090502, GO:0051607, GO:0016078, GO:0016075, RNA phosphodiester bond hydrolysis, endonucleolytic, defense response to virus, tRNA catabolic process, rRNA catabolic process, 85 159 145 118 75 148 131 75 110 ENSG00000154764 chr3 13816258 13880121 - WNT7A protein_coding This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]. 7476 GO:0098978, GO:0098978, GO:0098978, GO:0098793, GO:0098685, GO:0070062, GO:0031012, GO:0030666, GO:0009986, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005576, glutamatergic synapse, glutamatergic synapse, glutamatergic synapse, presynapse, Schaffer collateral - CA1 synapse, extracellular exosome, extracellular matrix, endocytic vesicle membrane, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0048018, GO:0048018, GO:0005515, GO:0005125, GO:0005125, GO:0005109, GO:0005102, receptor ligand activity, receptor ligand activity, protein binding, cytokine activity, cytokine activity, frizzled binding, signaling receptor binding, GO:2000463, GO:2000300, GO:1905606, GO:1905606, GO:1905606, GO:1905386, GO:1904891, GO:1904861, GO:0099175, GO:0099068, GO:0099054, GO:0071560, GO:0070307, GO:0062009, GO:0061038, GO:0060997, GO:0060071, GO:0060070, GO:0060070, GO:0060066, GO:0060054, GO:0051965, GO:0050768, GO:0048864, GO:0048103, GO:0046330, GO:0045944, GO:0045893, GO:0045167, GO:0045165, GO:0043627, GO:0043066, GO:0042733, GO:0036465, GO:0035313, GO:0035116, GO:0035115, GO:0035019, GO:0032355, GO:0032270, GO:0031133, GO:0030182, GO:0030010, GO:0022009, GO:0021846, GO:0021707, GO:0016055, GO:0014834, GO:0014719, GO:0010595, GO:0009953, GO:0007548, GO:0007409, GO:0007269, GO:0002062, GO:0001525, GO:0001502, GO:0000578, positive regulation of excitatory postsynaptic potential, regulation of synaptic vesicle exocytosis, regulation of presynapse assembly, regulation of presynapse assembly, regulation of presynapse assembly, positive regulation of protein localization to presynapse, positive regulation of excitatory synapse assembly, excitatory synapse assembly, regulation of postsynapse organization, postsynapse assembly, presynapse assembly, cellular response to transforming growth factor beta stimulus, lens fiber cell development, secondary palate development, uterus morphogenesis, dendritic spine morphogenesis, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, oviduct development, positive regulation of epithelial cell proliferation involved in wound healing, positive regulation of synapse assembly, negative regulation of neurogenesis, stem cell development, somatic stem cell division, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, asymmetric protein localization involved in cell fate determination, cell fate commitment, response to estrogen, negative regulation of apoptotic process, embryonic digit morphogenesis, synaptic vesicle recycling, wound healing, spreading of epidermal cells, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, somatic stem cell population maintenance, response to estradiol, positive regulation of cellular protein metabolic process, regulation of axon diameter, neuron differentiation, establishment of cell polarity, central nervous system vasculogenesis, cell proliferation in forebrain, cerebellar granule cell differentiation, Wnt signaling pathway, skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration, skeletal muscle satellite cell activation, positive regulation of endothelial cell migration, dorsal/ventral pattern formation, sex differentiation, axonogenesis, neurotransmitter secretion, chondrocyte differentiation, angiogenesis, cartilage condensation, embryonic axis specification, 9 2 13 12 4 14 12 4 3 ENSG00000154767 chr3 14145147 14178783 - XPC protein_coding The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]. 7508 GO:0090734, GO:0071942, GO:0071942, GO:0043231, GO:0005886, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000111, GO:0000109, site of DNA damage, XPC complex, XPC complex, intracellular membrane-bounded organelle, plasma membrane, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleotide-excision repair factor 2 complex, nucleotide-excision repair complex, GO:0044877, GO:0005515, GO:0003713, GO:0003697, GO:0003697, GO:0003684, GO:0003684, GO:0000405, GO:0000404, protein-containing complex binding, protein binding, transcription coactivator activity, single-stranded DNA binding, single-stranded DNA binding, damaged DNA binding, damaged DNA binding, bubble DNA binding, heteroduplex DNA loop binding, GO:1990731, GO:1901990, GO:0070914, GO:0070911, GO:0045893, GO:0042493, GO:0031573, GO:0010996, GO:0010224, GO:0006298, GO:0006294, GO:0006289, GO:0006289, GO:0006281, GO:0000720, GO:0000717, GO:0000715, GO:0000715, UV-damage excision repair, DNA incision, regulation of mitotic cell cycle phase transition, UV-damage excision repair, global genome nucleotide-excision repair, positive regulation of transcription, DNA-templated, response to drug, intra-S DNA damage checkpoint, response to auditory stimulus, response to UV-B, mismatch repair, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, nucleotide-excision repair, DNA repair, pyrimidine dimer repair by nucleotide-excision repair, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, nucleotide-excision repair, DNA damage recognition, 1221 1187 1352 898 1327 1056 906 862 967 ENSG00000154781 chr3 14651746 14672659 + CCDC174 protein_coding The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]. 51244 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0005515, protein binding, 605 631 696 291 417 342 254 298 293 ENSG00000154783 chr3 14810853 14934565 + FGD5 protein_coding 152273 GO:0032587, GO:0030027, GO:0005886, GO:0005856, GO:0005794, GO:0005783, GO:0005769, GO:0005737, GO:0005737, GO:0001726, ruffle membrane, lamellipodium, plasma membrane, cytoskeleton, Golgi apparatus, endoplasmic reticulum, early endosome, cytoplasm, cytoplasm, ruffle, GO:0046872, GO:0031267, GO:0005515, GO:0005085, GO:0005085, metal ion binding, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0046847, GO:0043087, GO:0030036, GO:0008360, GO:0007010, filopodium assembly, regulation of GTPase activity, actin cytoskeleton organization, regulation of cell shape, cytoskeleton organization, 1 1 1 0 1 2 1 0 6 ENSG00000154803 chr17 17212212 17237188 - FLCN protein_coding This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 201163 GO:0072686, GO:0044291, GO:0030496, GO:0005929, GO:0005929, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005765, GO:0005764, GO:0005737, GO:0005634, mitotic spindle, cell-cell contact zone, midbody, cilium, cilium, plasma membrane, cytosol, cytosol, centrosome, lysosomal membrane, lysosome, cytoplasm, nucleus, GO:0044877, GO:0005515, GO:0005096, GO:0005085, protein-containing complex binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:2001170, GO:2000973, GO:1904263, GO:1903444, GO:1901723, GO:1900181, GO:0120163, GO:0097009, GO:0070373, GO:0051898, GO:0046578, GO:0045944, GO:0045944, GO:0045785, GO:0043547, GO:0043065, GO:0035065, GO:0035024, GO:0034198, GO:0032465, GO:0032418, GO:0032008, GO:0032008, GO:0032007, GO:0032006, GO:0031929, GO:0030511, GO:0030511, GO:0030511, GO:0030336, GO:0030308, GO:0030097, GO:0010823, GO:0010629, GO:0010508, GO:0010508, GO:0009267, GO:0007043, GO:0001934, GO:0001932, GO:0001701, GO:0000122, GO:0000122, GO:0000122, negative regulation of ATP biosynthetic process, regulation of pro-B cell differentiation, positive regulation of TORC1 signaling, negative regulation of brown fat cell differentiation, negative regulation of cell proliferation involved in kidney development, negative regulation of protein localization to nucleus, negative regulation of cold-induced thermogenesis, energy homeostasis, negative regulation of ERK1 and ERK2 cascade, negative regulation of protein kinase B signaling, regulation of Ras protein signal transduction, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of cell adhesion, positive regulation of GTPase activity, positive regulation of apoptotic process, regulation of histone acetylation, negative regulation of Rho protein signal transduction, cellular response to amino acid starvation, regulation of cytokinesis, lysosome localization, positive regulation of TOR signaling, positive regulation of TOR signaling, negative regulation of TOR signaling, regulation of TOR signaling, TOR signaling, positive regulation of transforming growth factor beta receptor signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell migration, negative regulation of cell growth, hemopoiesis, negative regulation of mitochondrion organization, negative regulation of gene expression, positive regulation of autophagy, positive regulation of autophagy, cellular response to starvation, cell-cell junction assembly, positive regulation of protein phosphorylation, regulation of protein phosphorylation, in utero embryonic development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 604 793 680 2805 2158 2173 2473 1389 1337 ENSG00000154813 chr3 16257978 16264972 - DPH3 protein_coding This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]. 285381 GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0051099, GO:0050709, GO:0017183, GO:0017183, GO:0017183, GO:0017183, GO:0002098, positive regulation of binding, negative regulation of protein secretion, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, tRNA wobble uridine modification, 573 411 562 228 316 315 207 273 254 ENSG00000154814 chr3 16265160 16350299 + OXNAD1 protein_coding 92106 GO:0005575, cellular_component, GO:0016491, GO:0005515, GO:0003674, oxidoreductase activity, protein binding, molecular_function, GO:0055114, GO:0008150, oxidation-reduction process, biological_process, 72 39 68 175 90 209 182 53 127 ENSG00000154822 chr3 16802651 17090594 + PLCL2 protein_coding 23228 GO:0005737, cytoplasm, GO:0070679, GO:0050811, GO:0005515, GO:0004435, inositol 1,4,5 trisphosphate binding, GABA receptor binding, protein binding, phosphatidylinositol phospholipase C activity, GO:1900122, GO:0120163, GO:0050859, GO:0048015, GO:0033135, GO:0032228, GO:0007214, GO:0006629, GO:0002337, GO:0002322, positive regulation of receptor binding, negative regulation of cold-induced thermogenesis, negative regulation of B cell receptor signaling pathway, phosphatidylinositol-mediated signaling, regulation of peptidyl-serine phosphorylation, regulation of synaptic transmission, GABAergic, gamma-aminobutyric acid signaling pathway, lipid metabolic process, B-1a B cell differentiation, B cell proliferation involved in immune response, 727 605 966 424 490 681 452 505 553 ENSG00000154832 chr18 50282343 50288304 - CXXC1 protein_coding This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]. 30827 GO:0048188, GO:0035097, GO:0016607, GO:0016363, GO:0005829, GO:0005654, GO:0005654, GO:0005634, Set1C/COMPASS complex, histone methyltransferase complex, nuclear speck, nuclear matrix, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0045322, GO:0042800, GO:0035064, GO:0008270, GO:0005515, GO:0000987, unmethylated CpG binding, histone methyltransferase activity (H3-K4 specific), methylated histone binding, zinc ion binding, protein binding, cis-regulatory region sequence-specific DNA binding, GO:0051568, GO:0045893, GO:0045893, GO:0036498, GO:0006355, histone H3-K4 methylation, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, IRE1-mediated unfolded protein response, regulation of transcription, DNA-templated, 142 153 212 183 231 192 159 144 156 ENSG00000154839 chr18 50374995 50394173 + SKA1 protein_coding 220134 GO:0072686, GO:0015630, GO:0005876, GO:0005876, GO:0005829, GO:0000940, GO:0000940, mitotic spindle, microtubule cytoskeleton, spindle microtubule, spindle microtubule, cytosol, condensed chromosome outer kinetochore, condensed chromosome outer kinetochore, GO:0008017, GO:0008017, GO:0005515, microtubule binding, microtubule binding, protein binding, GO:0051301, GO:0051301, GO:0031110, GO:0031110, GO:0007059, GO:0007059, GO:0000278, GO:0000278, cell division, cell division, regulation of microtubule polymerization or depolymerization, regulation of microtubule polymerization or depolymerization, chromosome segregation, chromosome segregation, mitotic cell cycle, mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000154845 chr18 9546791 9615240 - PPP4R1 protein_coding This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 9989 GO:0030289, GO:0008287, protein phosphatase 4 complex, protein serine/threonine phosphatase complex, GO:0019888, GO:0019888, GO:0005515, GO:0004722, GO:0004721, protein phosphatase regulator activity, protein phosphatase regulator activity, protein binding, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, GO:0043666, GO:0007165, GO:0006470, GO:0006468, regulation of phosphoprotein phosphatase activity, signal transduction, protein dephosphorylation, protein phosphorylation, 4208 4038 5429 1815 3194 2413 2071 2528 2258 ENSG00000154856 chr18 10454628 10489948 + APCDD1 protein_coding This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]. 147495 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0017147, GO:0017147, GO:0005515, identical protein binding, Wnt-protein binding, Wnt-protein binding, protein binding, GO:0043615, GO:0042487, GO:0030178, GO:0030178, GO:0016055, GO:0001942, astrocyte cell migration, regulation of odontogenesis of dentin-containing tooth, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, Wnt signaling pathway, hair follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000154864 chr18 10666483 11148762 - PIEZO2 protein_coding The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]. 63895 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0008381, GO:0005261, mechanosensitive ion channel activity, cation channel activity, GO:0098655, GO:0071260, GO:0050982, GO:0050974, GO:0042391, GO:0009612, GO:0006812, cation transmembrane transport, cellular response to mechanical stimulus, detection of mechanical stimulus, detection of mechanical stimulus involved in sensory perception, regulation of membrane potential, response to mechanical stimulus, cation transport, 0 0 0 0 0 0 0 0 0 ENSG00000154874 chr17 18537800 18625617 - CCDC144B transcribed_unprocessed_pseudogene 284047 94 45 83 89 31 42 114 14 37 ENSG00000154889 chr18 11882622 11909223 - MPPE1 protein_coding 65258 GO:0070971, GO:0033116, GO:0016021, GO:0005801, GO:0005794, GO:0005793, GO:0005654, endoplasmic reticulum exit site, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, cis-Golgi network, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, nucleoplasm, GO:0062050, GO:0034235, GO:0030145, GO:0005515, GPI-mannose ethanolamine phosphate phosphodiesterase activity, GPI anchor binding, manganese ion binding, protein binding, GO:0006888, GO:0006506, GO:0006506, endoplasmic reticulum to Golgi vesicle-mediated transport, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 1571 1694 1446 795 1584 998 1115 1267 963 ENSG00000154898 chr17 20321164 20403557 + CCDC144CP transcribed_processed_pseudogene 13 15 17 2 8 5 7 5 6 ENSG00000154914 chr17 9644698 9729691 + USP43 protein_coding 124739 GO:0005654, nucleoplasm, GO:0019785, GO:0004843, ISG15-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0019985, GO:0016579, GO:0006511, translesion synthesis, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 1 3 1 0 5 4 7 ENSG00000154917 chr3 133824239 133895836 - RAB6B protein_coding 51560 GO:0031410, GO:0012505, GO:0005829, GO:0005794, GO:0005794, GO:0005794, GO:0005793, GO:0000139, cytoplasmic vesicle, endomembrane system, cytosol, Golgi apparatus, Golgi apparatus, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, Golgi membrane, GO:0031489, GO:0005525, GO:0005515, GO:0003924, GO:0003924, myosin V binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0042147, GO:0006891, GO:0006890, GO:0006890, GO:0006886, retrograde transport, endosome to Golgi, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, 2 2 6 9 4 20 4 7 21 ENSG00000154920 chr17 50373220 50381483 + EME1 protein_coding This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. 146956 GO:0048476, GO:0005730, GO:0005654, GO:0000792, GO:0000785, Holliday junction resolvase complex, nucleolus, nucleoplasm, heterochromatin, chromatin, GO:0046872, GO:0005515, GO:0004519, GO:0003677, metal ion binding, protein binding, endonuclease activity, DNA binding, GO:0090305, GO:0072429, GO:0036297, GO:0031573, GO:0031297, GO:0006302, GO:0000712, nucleic acid phosphodiester bond hydrolysis, response to intra-S DNA damage checkpoint signaling, interstrand cross-link repair, intra-S DNA damage checkpoint, replication fork processing, double-strand break repair, resolution of meiotic recombination intermediates, 13 34 27 25 26 32 21 23 26 ENSG00000154928 chr3 134597801 135260467 + EPHB1 protein_coding Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]. 2047 GO:0098978, GO:0070062, GO:0045121, GO:0043235, GO:0043005, GO:0032433, GO:0031901, GO:0030425, GO:0030424, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005783, GO:0005576, glutamatergic synapse, extracellular exosome, membrane raft, receptor complex, neuron projection, filopodium tip, early endosome membrane, dendrite, axon, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, endoplasmic reticulum, extracellular region, GO:0044877, GO:0008046, GO:0005524, GO:0005515, GO:0005005, GO:0005005, GO:0004714, protein-containing complex binding, axon guidance receptor activity, ATP binding, protein binding, transmembrane-ephrin receptor activity, transmembrane-ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:1902725, GO:1902723, GO:1901214, GO:0070372, GO:0061351, GO:0060997, GO:0060996, GO:0060326, GO:0051965, GO:0050965, GO:0050804, GO:0048593, GO:0048013, GO:0048013, GO:0046777, GO:0046328, GO:0033674, GO:0031589, GO:0031290, GO:0030010, GO:0022008, GO:0021952, GO:0021631, GO:0018108, GO:0014719, GO:0007411, GO:0007411, GO:0007275, GO:0007169, GO:0001771, GO:0001525, negative regulation of satellite cell differentiation, negative regulation of skeletal muscle satellite cell proliferation, regulation of neuron death, regulation of ERK1 and ERK2 cascade, neural precursor cell proliferation, dendritic spine morphogenesis, dendritic spine development, cell chemotaxis, positive regulation of synapse assembly, detection of temperature stimulus involved in sensory perception of pain, modulation of chemical synaptic transmission, camera-type eye morphogenesis, ephrin receptor signaling pathway, ephrin receptor signaling pathway, protein autophosphorylation, regulation of JNK cascade, positive regulation of kinase activity, cell-substrate adhesion, retinal ganglion cell axon guidance, establishment of cell polarity, neurogenesis, central nervous system projection neuron axonogenesis, optic nerve morphogenesis, peptidyl-tyrosine phosphorylation, skeletal muscle satellite cell activation, axon guidance, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, immunological synapse formation, angiogenesis, 748 887 791 757 1842 1023 950 1756 896 ENSG00000154930 chr20 25006230 25058980 - ACSS1 protein_coding This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 84532 GO:0005759, GO:0005759, mitochondrial matrix, mitochondrial matrix, GO:0050218, GO:0016208, GO:0005524, GO:0005515, GO:0003987, GO:0003987, propionate-CoA ligase activity, AMP binding, ATP binding, protein binding, acetate-CoA ligase activity, acetate-CoA ligase activity, GO:0019542, GO:0019427, GO:0019413, GO:0006085, GO:0006069, propionate biosynthetic process, acetyl-CoA biosynthetic process from acetate, acetate biosynthetic process, acetyl-CoA biosynthetic process, ethanol oxidation, 70 60 196 150 70 212 102 62 170 ENSG00000154945 chr17 50693190 50707924 - ANKRD40 protein_coding 91369 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 28 26 78 64 41 94 34 36 75 ENSG00000154957 chr17 11977439 11997510 - ZNF18 protein_coding 7566 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 298 332 236 189 237 179 164 159 173 ENSG00000154975 chr17 51630313 52160017 - CA10 protein_coding This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 56934 GO:0005575, cellular_component, GO:0016836, GO:0008270, GO:0004089, GO:0003674, hydro-lyase activity, zinc ion binding, carbonate dehydratase activity, molecular_function, GO:0007420, GO:0006730, brain development, one-carbon metabolic process, 0 0 0 1 0 0 0 0 0 ENSG00000154978 chr7 55436056 55572988 - VOPP1 protein_coding 81552 GO:0031301, GO:0031301, GO:0030659, GO:0005768, integral component of organelle membrane, integral component of organelle membrane, cytoplasmic vesicle membrane, endosome, 520 366 1210 206 250 350 241 193 409 ENSG00000154997 chr7 55793544 55862789 - SEPT14 protein_coding SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]. 346288 GO:0032153, GO:0031105, GO:0015630, GO:0005940, cell division site, septin complex, microtubule cytoskeleton, septin ring, GO:0060090, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, GTP binding, protein binding, GTPase activity, GO:0061640, GO:0034613, cytoskeleton-dependent cytokinesis, cellular protein localization, 0 0 0 0 0 0 0 1 0 ENSG00000155008 chrX 85003826 85093316 + APOOL protein_coding This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011]. 139322 GO:0140275, GO:0061617, GO:0061617, GO:0061617, GO:0031093, GO:0005739, GO:0005576, GO:0001401, MIB complex, MICOS complex, MICOS complex, MICOS complex, platelet alpha granule lumen, mitochondrion, extracellular region, SAM complex, GO:0005515, protein binding, GO:0042407, GO:0007007, GO:0002576, cristae formation, inner mitochondrial membrane organization, platelet degranulation, 4 14 15 22 7 21 15 9 15 ENSG00000155011 chr4 106921802 107283806 - DKK2 protein_coding This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008]. 27123 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0048019, GO:0039706, GO:0005515, receptor antagonist activity, co-receptor binding, protein binding, GO:2000272, GO:0090263, GO:0090263, GO:0090090, GO:0090090, GO:0090090, GO:0090090, GO:0016055, GO:0007275, negative regulation of signaling receptor activity, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, Wnt signaling pathway, multicellular organism development, 0 1 0 0 0 0 0 1 0 ENSG00000155016 chr4 107931369 107953457 + CYP2U1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]. 113612 GO:0043231, GO:0016021, GO:0005789, GO:0005743, GO:0005737, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, mitochondrial inner membrane, cytoplasm, GO:0102033, GO:0052869, GO:0020037, GO:0016712, GO:0008395, GO:0005506, GO:0004497, long-chain fatty acid omega-hydroxylase activity, arachidonic acid omega-hydroxylase activity, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, iron ion binding, monooxygenase activity, GO:0097267, GO:0097267, GO:0055114, GO:0042738, GO:0006805, GO:0006082, omega-hydroxylase P450 pathway, omega-hydroxylase P450 pathway, oxidation-reduction process, exogenous drug catabolic process, xenobiotic metabolic process, organic acid metabolic process, 1 6 11 9 6 13 8 1 13 ENSG00000155026 chr7 5925550 5970683 - RSPH10B protein_coding 222967 17 28 25 35 21 44 42 25 21 ENSG00000155034 chr7 5431335 5513798 - FBXL18 protein_coding The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]. 80028 GO:0019005, GO:0005829, SCF ubiquitin ligase complex, cytosol, GO:0043687, GO:0031146, GO:0031146, GO:0000209, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein polyubiquitination, 113 141 181 63 87 61 103 90 43 ENSG00000155052 chr2 124025287 124915287 + CNTNAP5 protein_coding This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]. 129684 GO:0016021, integral component of membrane, GO:0007155, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000155066 chr2 95274453 95291308 + PROM2 protein_coding This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 150696 GO:0071914, GO:0071914, GO:0070062, GO:0060170, GO:0045121, GO:0044393, GO:0042995, GO:0031528, GO:0031410, GO:0016324, GO:0016323, GO:0009986, GO:0009986, GO:0005929, GO:0005929, GO:0005902, GO:0005902, GO:0005887, GO:0005887, prominosome, prominosome, extracellular exosome, ciliary membrane, membrane raft, microspike, cell projection, microvillus membrane, cytoplasmic vesicle, apical plasma membrane, basolateral plasma membrane, cell surface, cell surface, cilium, cilium, microvillus, microvillus, integral component of plasma membrane, integral component of plasma membrane, GO:0015485, GO:0015485, GO:0005515, cholesterol binding, cholesterol binding, protein binding, GO:2001287, GO:2000369, GO:0048550, GO:0043087, GO:0031346, GO:0001934, negative regulation of caveolin-mediated endocytosis, regulation of clathrin-dependent endocytosis, negative regulation of pinocytosis, regulation of GTPase activity, positive regulation of cell projection organization, positive regulation of protein phosphorylation, 0 1 0 0 0 0 0 7 0 ENSG00000155070 chr7 6855485 6859830 - UNC93B2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000155085 chr6 109492856 109691217 - AK9 protein_coding The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]. 221264 GO:0031965, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, nuclear membrane, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0050145, GO:0005524, GO:0004550, GO:0004550, GO:0004017, nucleoside monophosphate kinase activity, ATP binding, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, adenylate kinase activity, GO:0061571, GO:0061570, GO:0061569, GO:0061568, GO:0061567, GO:0061566, GO:0061565, GO:0061508, GO:0015949, GO:0009132, GO:0006757, GO:0006757, GO:0006756, GO:0006756, GO:0006186, GO:0006186, GO:0006174, GO:0006163, TDP phosphorylation, dCDP phosphorylation, UDP phosphorylation, GDP phosphorylation, dCMP phosphorylation, CMP phosphorylation, dAMP phosphorylation, CDP phosphorylation, nucleobase-containing small molecule interconversion, nucleoside diphosphate metabolic process, ATP generation from ADP, ATP generation from ADP, AMP phosphorylation, AMP phosphorylation, dGDP phosphorylation, dGDP phosphorylation, dADP phosphorylation, purine nucleotide metabolic process, 69 86 56 62 71 66 48 50 42 ENSG00000155087 chr8 102551572 102561017 + ODF1 protein_coding The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq, Jul 2008]. 4956 GO:0005634, GO:0001520, nucleus, outer dense fiber, GO:0019904, GO:0005515, protein domain specific binding, protein binding, GO:0030154, GO:0007283, GO:0007275, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000155090 chr8 102648779 102655902 - KLF10 protein_coding This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 7071 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0001228, GO:0001046, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, core promoter sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901653, GO:0045944, GO:0045892, GO:0045672, GO:0042752, GO:0035019, GO:0030282, GO:0009267, GO:0008285, GO:0007623, GO:0007267, GO:0006357, GO:0000122, cellular response to peptide, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of osteoclast differentiation, regulation of circadian rhythm, somatic stem cell population maintenance, bone mineralization, cellular response to starvation, negative regulation of cell population proliferation, circadian rhythm, cell-cell signaling, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 461 838 1035 3416 2380 2832 4072 2351 2864 ENSG00000155093 chr7 157539056 158587788 - PTPRN2 protein_coding This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 5799 GO:0101003, GO:0043235, GO:0043195, GO:0030672, GO:0030667, GO:0005887, GO:0005886, GO:0005788, ficolin-1-rich granule membrane, receptor complex, terminal bouton, synaptic vesicle membrane, secretory granule membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum lumen, GO:0005001, transmembrane receptor protein tyrosine phosphatase activity, GO:0043312, GO:0035773, GO:0035335, GO:0034260, GO:0007269, GO:0006629, GO:0006470, neutrophil degranulation, insulin secretion involved in cellular response to glucose stimulus, peptidyl-tyrosine dephosphorylation, negative regulation of GTPase activity, neurotransmitter secretion, lipid metabolic process, protein dephosphorylation, 248 545 738 53 367 219 93 374 200 ENSG00000155096 chr8 102826357 102893864 - AZIN1 protein_coding The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]. 51582 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0042978, GO:0042978, GO:0005515, GO:0004586, ornithine decarboxylase activator activity, ornithine decarboxylase activator activity, protein binding, ornithine decarboxylase activity, GO:1902269, GO:1902269, GO:0043085, GO:0042177, GO:0042177, GO:0033387, GO:0006521, positive regulation of polyamine transmembrane transport, positive regulation of polyamine transmembrane transport, positive regulation of catalytic activity, negative regulation of protein catabolic process, negative regulation of protein catabolic process, putrescine biosynthetic process from ornithine, regulation of cellular amino acid metabolic process, 1992 1861 2981 1419 1616 1833 1482 1351 1336 ENSG00000155097 chr8 103021063 103073051 + ATP6V1C1 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]. 528 GO:0070062, GO:0045177, GO:0031410, GO:0016469, GO:0005886, GO:0005829, GO:0005765, GO:0000221, extracellular exosome, apical part of cell, cytoplasmic vesicle, proton-transporting two-sector ATPase complex, plasma membrane, cytosol, lysosomal membrane, vacuolar proton-transporting V-type ATPase, V1 domain, GO:0046961, GO:0005515, GO:0005215, proton-transporting ATPase activity, rotational mechanism, protein binding, transporter activity, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0016241, GO:0008286, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, 609 517 740 557 635 492 383 386 400 ENSG00000155099 chr8 90993796 91041064 - PIP4P2 protein_coding TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]. 55529 GO:0031902, GO:0030670, GO:0016021, GO:0005886, GO:0005765, late endosome membrane, phagocytic vesicle membrane, integral component of membrane, plasma membrane, lysosomal membrane, GO:0034597, GO:0005515, phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity, protein binding, GO:0050765, GO:0046856, negative regulation of phagocytosis, phosphatidylinositol dephosphorylation, 487 449 644 373 768 574 491 747 612 ENSG00000155100 chr8 91070196 91087095 + OTUD6B protein_coding This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]. 51633 GO:0016281, eukaryotic translation initiation factor 4F complex, GO:0008234, GO:0004843, GO:0004843, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0043248, GO:0016579, GO:0016579, GO:0016579, GO:0008283, proteasome assembly, protein deubiquitination, protein deubiquitination, protein deubiquitination, cell population proliferation, 51 20 52 40 38 37 21 23 21 ENSG00000155111 chr6 110609978 110815958 - CDK19 protein_coding This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. 23097 GO:0016592, GO:0005829, GO:0005634, mediator complex, cytosol, nucleus, GO:0008353, GO:0005524, GO:0004693, RNA polymerase II CTD heptapeptide repeat kinase activity, ATP binding, cyclin-dependent protein serine/threonine kinase activity, GO:0071222, GO:0051726, GO:0050729, GO:0043065, GO:0006468, cellular response to lipopolysaccharide, regulation of cell cycle, positive regulation of inflammatory response, positive regulation of apoptotic process, protein phosphorylation, 1750 1975 2053 1104 2022 1828 1303 1489 1485 ENSG00000155115 chr6 110958560 110967890 + GTF3C6 protein_coding RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008]. 112495 GO:0016604, GO:0005654, GO:0005654, GO:0000127, GO:0000127, nuclear body, nucleoplasm, nucleoplasm, transcription factor TFIIIC complex, transcription factor TFIIIC complex, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0042797, GO:0042791, GO:0006383, GO:0006383, tRNA transcription by RNA polymerase III, 5S class rRNA transcription by RNA polymerase III, transcription by RNA polymerase III, transcription by RNA polymerase III, 13 17 34 33 28 67 30 14 8 ENSG00000155158 chr9 15163622 15307360 - TTC39B protein_coding 158219 GO:0005515, protein binding, GO:0090181, GO:0090181, GO:0042632, GO:0042632, GO:0010887, GO:0010887, GO:0010874, GO:0010874, GO:0006629, regulation of cholesterol metabolic process, regulation of cholesterol metabolic process, cholesterol homeostasis, cholesterol homeostasis, negative regulation of cholesterol storage, negative regulation of cholesterol storage, regulation of cholesterol efflux, regulation of cholesterol efflux, lipid metabolic process, 35 27 70 126 37 166 102 37 76 ENSG00000155189 chr8 6708357 6759666 + AGPAT5 protein_coding This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]. 55326 GO:0016021, GO:0012505, GO:0005789, GO:0005789, GO:0005741, GO:0005739, GO:0005739, GO:0005635, integral component of membrane, endomembrane system, endoplasmic reticulum membrane, endoplasmic reticulum membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, nuclear envelope, GO:0016746, GO:0005515, GO:0003841, GO:0003841, GO:0003841, transferase activity, transferring acyl groups, protein binding, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0016024, GO:0008654, GO:0006654, GO:0006639, GO:0002244, CDP-diacylglycerol biosynthetic process, phospholipid biosynthetic process, phosphatidic acid biosynthetic process, acylglycerol metabolic process, hematopoietic progenitor cell differentiation, 25 14 30 48 20 41 37 16 30 ENSG00000155229 chr10 97458324 97498794 - MMS19 protein_coding 64210 GO:0097361, GO:0097361, GO:0071817, GO:0071817, GO:0016020, GO:0005829, GO:0005819, GO:0005815, GO:0005737, GO:0005675, GO:0005654, GO:0005634, GO:0005634, CIA complex, CIA complex, MMXD complex, MMXD complex, membrane, cytosol, spindle, microtubule organizing center, cytoplasm, transcription factor TFIIH holo complex, nucleoplasm, nucleus, nucleus, GO:0030674, GO:0030331, GO:0030159, GO:0019899, GO:0005515, GO:0003713, protein-macromolecule adaptor activity, estrogen receptor binding, signaling receptor complex adaptor activity, enzyme binding, protein binding, transcription coactivator activity, GO:1905168, GO:0097428, GO:0097428, GO:0045893, GO:0016226, GO:0016226, GO:0009725, GO:0007059, GO:0006974, GO:0006351, GO:0006289, GO:0006289, GO:0006281, GO:0006259, GO:0000160, positive regulation of double-strand break repair via homologous recombination, protein maturation by iron-sulfur cluster transfer, protein maturation by iron-sulfur cluster transfer, positive regulation of transcription, DNA-templated, iron-sulfur cluster assembly, iron-sulfur cluster assembly, response to hormone, chromosome segregation, cellular response to DNA damage stimulus, transcription, DNA-templated, nucleotide-excision repair, nucleotide-excision repair, DNA repair, DNA metabolic process, phosphorelay signal transduction system, 125 143 175 156 131 174 130 95 138 ENSG00000155249 chr14 19930917 19936757 + OR4K1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79544 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000155252 chr10 97640686 97676434 + PI4K2A protein_coding Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]. 55361 GO:0045121, GO:0043204, GO:0043025, GO:0043005, GO:0042734, GO:0035838, GO:0031410, GO:0031224, GO:0031083, GO:0030425, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005768, GO:0005768, GO:0005765, GO:0005739, membrane raft, perikaryon, neuronal cell body, neuron projection, presynaptic membrane, growing cell tip, cytoplasmic vesicle, intrinsic component of membrane, BLOC-1 complex, dendrite, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, trans-Golgi network, endosome, endosome, lysosomal membrane, mitochondrion, GO:0035651, GO:0005524, GO:0005515, GO:0004430, GO:0004430, GO:0000287, AP-3 adaptor complex binding, ATP binding, protein binding, 1-phosphatidylinositol 4-kinase activity, 1-phosphatidylinositol 4-kinase activity, magnesium ion binding, GO:0046854, GO:0046854, GO:0007032, GO:0007030, GO:0006661, GO:0006661, phosphatidylinositol phosphorylation, phosphatidylinositol phosphorylation, endosome organization, Golgi organization, phosphatidylinositol biosynthetic process, phosphatidylinositol biosynthetic process, 346 384 470 262 252 427 280 210 314 ENSG00000155254 chr10 97713173 97718152 + MARVELD1 protein_coding 83742 GO:0016021, GO:0005886, GO:0005856, GO:0005737, GO:0005634, integral component of membrane, plasma membrane, cytoskeleton, cytoplasm, nucleus, GO:0019911, structural constituent of myelin sheath, GO:0042552, GO:0007049, myelination, cell cycle, 1 2 3 14 3 6 3 1 2 ENSG00000155256 chr10 97737121 97760907 + ZFYVE27 protein_coding This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]. 118813 GO:0071782, GO:0071782, GO:0055038, GO:0043231, GO:0032584, GO:0032584, GO:0030425, GO:0030424, GO:0030176, GO:0005829, GO:0005783, GO:0005654, endoplasmic reticulum tubular network, endoplasmic reticulum tubular network, recycling endosome membrane, intracellular membrane-bounded organelle, growth cone membrane, growth cone membrane, dendrite, axon, integral component of endoplasmic reticulum membrane, cytosol, endoplasmic reticulum, nucleoplasm, GO:0046872, GO:0043621, GO:0043621, GO:0042802, GO:0005515, metal ion binding, protein self-association, protein self-association, identical protein binding, protein binding, GO:0072659, GO:0072659, GO:0071787, GO:0071787, GO:0048011, GO:0048011, GO:0045773, GO:0045773, GO:0031175, GO:0031175, GO:0016192, GO:0016192, protein localization to plasma membrane, protein localization to plasma membrane, endoplasmic reticulum tubular network formation, endoplasmic reticulum tubular network formation, neurotrophin TRK receptor signaling pathway, neurotrophin TRK receptor signaling pathway, positive regulation of axon extension, positive regulation of axon extension, neuron projection development, neuron projection development, vesicle-mediated transport, vesicle-mediated transport, 839 842 1049 532 712 687 710 557 520 ENSG00000155265 chr10 97850239 97871580 + GOLGA7B protein_coding 401647 GO:0002178, GO:0000139, palmitoyltransferase complex, Golgi membrane, GO:0019899, GO:0019706, GO:0005515, enzyme binding, protein-cysteine S-palmitoyltransferase activity, protein binding, GO:0018230, GO:0006612, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 10 6 16 42 13 60 47 5 53 ENSG00000155269 chr4 8558725 8619761 + GPR78 protein_coding The protein encoded by this gene belongs to the G protein-coupled receptor family, which contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. This is an orphan receptor, which displays significant level of constitutive activity. Association analysis shows preliminary evidence for the involvement of this gene in susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]. 27201 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004930, GO:0004930, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0007189, GO:0007189, GO:0007186, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000155275 chr4 8436140 8493531 + TRMT44 protein_coding The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]. 152992 GO:0005737, cytoplasm, GO:0046872, GO:0016300, metal ion binding, tRNA (uracil) methyltransferase activity, GO:0030488, tRNA methylation, 29 18 32 55 42 40 51 22 33 ENSG00000155287 chr10 99610522 99620609 - SLC25A28 protein_coding 81894 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0005381, iron ion transmembrane transporter activity, GO:0055072, GO:0048250, iron ion homeostasis, iron import into the mitochondrion, 413 367 556 304 499 588 328 359 499 ENSG00000155304 chr21 14371115 14383484 - HSPA13 protein_coding The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq, Jul 2008]. 6782 GO:0070062, GO:0043231, GO:0005783, GO:0005739, GO:0005737, extracellular exosome, intracellular membrane-bounded organelle, endoplasmic reticulum, mitochondrion, cytoplasm, GO:0051787, GO:0051082, GO:0044183, GO:0031072, GO:0016887, GO:0005524, GO:0005515, misfolded protein binding, unfolded protein binding, protein folding chaperone, heat shock protein binding, ATPase activity, ATP binding, protein binding, GO:0051085, GO:0042026, GO:0034620, chaperone cofactor-dependent protein refolding, protein refolding, cellular response to unfolded protein, 788 773 935 360 395 500 346 261 319 ENSG00000155307 chr21 14485228 14658821 - SAMSN1 protein_coding SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]. 64092 GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0001726, cytosol, cytoplasm, nucleus, nucleus, ruffle, GO:0003723, GO:0001784, GO:0001784, RNA binding, phosphotyrosine residue binding, phosphotyrosine residue binding, GO:0050869, GO:0050869, GO:0050732, GO:0050732, GO:0002820, negative regulation of B cell activation, negative regulation of B cell activation, negative regulation of peptidyl-tyrosine phosphorylation, negative regulation of peptidyl-tyrosine phosphorylation, negative regulation of adaptive immune response, 2360 2183 6832 548 652 938 657 516 661 ENSG00000155313 chr21 15730025 15880069 + USP25 protein_coding Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]. 29761 GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005634, cytosol, cytosol, cytosol, endoplasmic reticulum, nucleus, GO:0051117, GO:0043130, GO:0032183, GO:0032183, GO:0031625, GO:0019783, GO:0008233, GO:0005515, GO:0004843, GO:0004843, GO:0004197, ATPase binding, ubiquitin binding, SUMO binding, SUMO binding, ubiquitin protein ligase binding, ubiquitin-like protein-specific protease activity, peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:1904293, GO:0071108, GO:0070536, GO:0016579, GO:0016579, GO:0016579, GO:0006511, GO:0006508, GO:0006464, negative regulation of ERAD pathway, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, proteolysis, cellular protein modification process, 1286 1229 1393 972 1181 1134 1023 907 930 ENSG00000155324 chr5 126360132 126496494 + GRAMD2B protein_coding 65983 GO:0005881, cytoplasmic microtubule, GO:0042802, GO:0005515, identical protein binding, protein binding, 10 9 37 19 11 16 23 8 8 ENSG00000155329 chr5 132996985 133026604 - ZCCHC10 protein_coding 54819 GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, 122 78 155 76 84 131 93 68 71 ENSG00000155330 chr16 46796607 46831411 - C16orf87 protein_coding 388272 GO:0005515, protein binding, 22 21 29 47 32 70 26 23 25 ENSG00000155363 chr1 112673141 112700746 + MOV10 protein_coding 4343 GO:0043186, GO:0036464, GO:0010494, GO:0005829, GO:0005829, GO:0005829, GO:0005634, GO:0005615, GO:0000932, P granule, cytoplasmic ribonucleoprotein granule, cytoplasmic stress granule, cytosol, cytosol, cytosol, nucleus, extracellular space, P-body, GO:0032574, GO:0005524, GO:0005515, GO:0003723, GO:0003723, GO:0003723, 5'-3' RNA helicase activity, ATP binding, protein binding, RNA binding, RNA binding, RNA binding, GO:0150011, GO:0061158, GO:0061014, GO:0051607, GO:0045652, GO:0035279, GO:0035195, GO:0035194, GO:0016032, GO:0010629, GO:0010628, GO:0010526, GO:0007223, regulation of neuron projection arborization, 3'-UTR-mediated mRNA destabilization, positive regulation of mRNA catabolic process, defense response to virus, regulation of megakaryocyte differentiation, mRNA cleavage involved in gene silencing by miRNA, gene silencing by miRNA, post-transcriptional gene silencing by RNA, viral process, negative regulation of gene expression, positive regulation of gene expression, negative regulation of transposition, RNA-mediated, Wnt signaling pathway, calcium modulating pathway, 152 157 322 288 222 356 284 196 291 ENSG00000155366 chr1 112701106 112707434 - RHOC protein_coding This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 389 GO:0070062, GO:0043231, GO:0043005, GO:0042995, GO:0032420, GO:0032154, GO:0031410, GO:0005938, GO:0005886, GO:0005886, GO:0005856, GO:0005829, extracellular exosome, intracellular membrane-bounded organelle, neuron projection, cell projection, stereocilium, cleavage furrow, cytoplasmic vesicle, cell cortex, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0019901, GO:0005525, GO:0005515, GO:0003924, protein kinase binding, GTP binding, protein binding, GTPase activity, GO:1902766, GO:0060193, GO:0051496, GO:0051056, GO:0044319, GO:0043297, GO:0043123, GO:0032956, GO:0031334, GO:0030865, GO:0030335, GO:0016477, GO:0008360, GO:0007264, GO:0007186, GO:0007163, GO:0007015, GO:0000281, skeletal muscle satellite cell migration, positive regulation of lipase activity, positive regulation of stress fiber assembly, regulation of small GTPase mediated signal transduction, wound healing, spreading of cells, apical junction assembly, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of actin cytoskeleton organization, positive regulation of protein-containing complex assembly, cortical cytoskeleton organization, positive regulation of cell migration, cell migration, regulation of cell shape, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, establishment or maintenance of cell polarity, actin filament organization, mitotic cytokinesis, 12 10 20 24 19 40 24 17 38 ENSG00000155367 chr1 112709994 112715477 - PPM1J protein_coding This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [provided by RefSeq, Jul 2008]. 333926 GO:0106307, GO:0106306, GO:0005515, GO:0004724, protein threonine phosphatase activity, protein serine phosphatase activity, protein binding, magnesium-dependent protein serine/threonine phosphatase activity, GO:0006470, GO:0006470, protein dephosphorylation, protein dephosphorylation, 0 0 3 2 1 2 3 1 7 ENSG00000155368 chr2 119366921 119372560 + DBI protein_coding This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 1622 GO:0070062, GO:0032994, GO:0005794, GO:0005788, extracellular exosome, protein-lipid complex, Golgi apparatus, endoplasmic reticulum lumen, GO:0042802, GO:0036042, GO:0030156, GO:0008289, identical protein binding, long-chain fatty acyl-CoA binding, benzodiazepine receptor binding, lipid binding, GO:2001140, GO:1905920, GO:1903060, GO:0036151, GO:0006637, positive regulation of phospholipid transport, positive regulation of CoA-transferase activity, negative regulation of protein lipidation, phosphatidylcholine acyl-chain remodeling, acyl-CoA metabolic process, 164 162 234 145 167 201 149 187 215 ENSG00000155380 chr1 112911847 112957013 - SLC16A1 protein_coding The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]. 6566 GO:0070062, GO:0045202, GO:0043231, GO:0030054, GO:0016328, GO:0016324, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0009925, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005813, extracellular exosome, synapse, intracellular membrane-bounded organelle, cell junction, lateral plasma membrane, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, basal plasma membrane, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, centrosome, GO:0097159, GO:0046943, GO:0042802, GO:0015293, GO:0015130, GO:0015129, GO:0015129, GO:0008028, GO:0008028, GO:0008028, GO:0005515, organic cyclic compound binding, carboxylic acid transmembrane transporter activity, identical protein binding, symporter activity, mevalonate transmembrane transporter activity, lactate transmembrane transporter activity, lactate transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, GO:1905039, GO:0150104, GO:0071407, GO:0051780, GO:0050900, GO:0050796, GO:0042593, GO:0035879, GO:0035879, GO:0032094, GO:0015728, GO:0015718, GO:0015718, GO:0015718, GO:0007098, GO:0006629, GO:0006090, carboxylic acid transmembrane transport, transport across blood-brain barrier, cellular response to organic cyclic compound, behavioral response to nutrient, leukocyte migration, regulation of insulin secretion, glucose homeostasis, plasma membrane lactate transport, plasma membrane lactate transport, response to food, mevalonate transport, monocarboxylic acid transport, monocarboxylic acid transport, monocarboxylic acid transport, centrosome cycle, lipid metabolic process, pyruvate metabolic process, 20 11 59 51 6 58 29 7 14 ENSG00000155393 chr16 50065941 50106387 + HEATR3 protein_coding The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]. 55027 GO:0051082, unfolded protein binding, GO:0042273, GO:0006606, ribosomal large subunit biogenesis, protein import into nucleus, 60 43 39 55 65 39 70 34 41 ENSG00000155428 chr7 72959485 72969466 - TRIM74 protein_coding 378108 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0016567, protein ubiquitination, 3 5 2 1 3 14 2 1 15 ENSG00000155438 chr2 121726945 121736923 - NIFK protein_coding This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq, Jan 2009]. 84365 GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0000794, cytoplasm, nucleolus, nucleolus, nucleoplasm, condensed nuclear chromosome, GO:0005515, GO:0003723, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, RNA binding, GO:0065003, GO:0016072, GO:0009303, GO:0000463, protein-containing complex assembly, rRNA metabolic process, rRNA transcription, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 31 18 33 61 39 54 75 13 41 ENSG00000155463 chr14 22766522 22773041 + OXA1L protein_coding This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]. 5018 GO:0032991, GO:0032592, GO:0031966, GO:0031305, GO:0005759, GO:0005746, GO:0005739, protein-containing complex, integral component of mitochondrial membrane, mitochondrial membrane, integral component of mitochondrial inner membrane, mitochondrial matrix, mitochondrial respirasome, mitochondrion, GO:0097177, GO:0042803, GO:0032977, GO:0005515, mitochondrial ribosome binding, protein homodimerization activity, membrane insertase activity, protein binding, GO:0070126, GO:0070125, GO:0065003, GO:0055114, GO:0051354, GO:0051262, GO:0051205, GO:0033617, GO:0033615, GO:0032981, GO:0032979, GO:0032780, GO:0009060, GO:0009060, mitochondrial translational termination, mitochondrial translational elongation, protein-containing complex assembly, oxidation-reduction process, negative regulation of oxidoreductase activity, protein tetramerization, protein insertion into membrane, mitochondrial cytochrome c oxidase assembly, mitochondrial proton-transporting ATP synthase complex assembly, mitochondrial respiratory chain complex I assembly, protein insertion into mitochondrial inner membrane from matrix, negative regulation of ATPase activity, aerobic respiration, aerobic respiration, 277 269 276 242 318 390 276 243 253 ENSG00000155465 chr14 22773222 22829820 - SLC7A7 protein_coding The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]. 9056 GO:0016323, GO:0005887, GO:0005886, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, GO:0015179, GO:0015174, L-amino acid transmembrane transporter activity, basic amino acid transmembrane transporter activity, GO:1990822, GO:1902475, GO:0050900, GO:0006865, GO:0003333, GO:0000821, basic amino acid transmembrane transport, L-alpha-amino acid transmembrane transport, leukocyte migration, amino acid transport, amino acid transmembrane transport, regulation of arginine metabolic process, 616 725 399 450 756 261 501 628 270 ENSG00000155495 chrX 141903894 141909388 + MAGEC1 protein_coding This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. [provided by RefSeq, Jul 2008]. 9947 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000155506 chr5 154712902 154817607 + LARP1 protein_coding 23367 GO:0042788, GO:0031931, GO:0016020, GO:0010494, GO:0005844, GO:0005737, polysomal ribosome, TORC1 complex, membrane, cytoplasmic stress granule, polysome, cytoplasm, GO:0048027, GO:0048027, GO:0045296, GO:0043024, GO:0031369, GO:0008494, GO:0008190, GO:0005515, GO:0003730, GO:0003723, GO:0000340, GO:0000339, mRNA 5'-UTR binding, mRNA 5'-UTR binding, cadherin binding, ribosomal small subunit binding, translation initiation factor binding, translation activator activity, eukaryotic initiation factor 4E binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA 7-methylguanosine cap binding, RNA cap binding, GO:1990928, GO:0072752, GO:0048255, GO:0045948, GO:0045947, GO:0045070, GO:0038202, GO:0031929, GO:0017148, GO:0016239, GO:0010608, GO:0008283, GO:0006413, response to amino acid starvation, cellular response to rapamycin, mRNA stabilization, positive regulation of translational initiation, negative regulation of translational initiation, positive regulation of viral genome replication, TORC1 signaling, TOR signaling, negative regulation of translation, positive regulation of macroautophagy, posttranscriptional regulation of gene expression, cell population proliferation, translational initiation, 285 285 480 290 185 357 268 177 247 ENSG00000155508 chr5 154857553 154876793 + CNOT8 protein_coding 9337 GO:0030015, GO:0030014, GO:0005829, GO:0005634, GO:0000932, CCR4-NOT core complex, CCR4-NOT complex, cytosol, nucleus, P-body, GO:0046872, GO:0005515, GO:0004535, GO:0004535, GO:0003723, GO:0000175, metal ion binding, protein binding, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, RNA binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0061014, GO:0043928, GO:0043928, GO:0035195, GO:0017148, GO:0008284, GO:0006977, GO:0006351, GO:0000289, RNA phosphodiester bond hydrolysis, exonucleolytic, positive regulation of mRNA catabolic process, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, gene silencing by miRNA, negative regulation of translation, positive regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, transcription, DNA-templated, nuclear-transcribed mRNA poly(A) tail shortening, 699 791 875 508 763 782 567 576 551 ENSG00000155511 chr5 153489615 153813869 + GRIA1 protein_coding Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2890 GO:0099544, GO:0098978, GO:0098839, GO:0097060, GO:0055038, GO:0055037, GO:0044309, GO:0044308, GO:0043197, GO:0043197, GO:0043025, GO:0033116, GO:0032591, GO:0032281, GO:0032281, GO:0031901, GO:0030672, GO:0030666, GO:0030425, GO:0014069, GO:0012507, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005789, GO:0000139, perisynaptic space, glutamatergic synapse, postsynaptic density membrane, synaptic membrane, recycling endosome membrane, recycling endosome, neuron spine, axonal spine, dendritic spine, dendritic spine, neuronal cell body, endoplasmic reticulum-Golgi intermediate compartment membrane, dendritic spine membrane, AMPA glutamate receptor complex, AMPA glutamate receptor complex, early endosome membrane, synaptic vesicle membrane, endocytic vesicle membrane, dendrite, postsynaptic density, ER to Golgi transport vesicle membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, Golgi membrane, GO:1904315, GO:0099583, GO:0038023, GO:0030165, GO:0015276, GO:0008066, GO:0005515, GO:0004971, GO:0004971, GO:0001540, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration, signaling receptor activity, PDZ domain binding, ligand-gated ion channel activity, glutamate receptor activity, protein binding, AMPA glutamate receptor activity, AMPA glutamate receptor activity, amyloid-beta binding, GO:2000310, GO:0099566, GO:0060292, GO:0060078, GO:0048208, GO:0035235, GO:0034220, GO:0031623, GO:0007616, GO:0007268, GO:0007165, GO:0006888, regulation of NMDA receptor activity, regulation of postsynaptic cytosolic calcium ion concentration, long-term synaptic depression, regulation of postsynaptic membrane potential, COPII vesicle coating, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, receptor internalization, long-term memory, chemical synaptic transmission, signal transduction, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 0 0 0 0 0 0 0 ENSG00000155530 chr7 134127299 134264591 + LRGUK protein_coding 136332 GO:0042995, GO:0005829, GO:0002177, GO:0001669, cell projection, cytosol, manchette, acrosomal vesicle, GO:0005524, GO:0005515, GO:0004385, ATP binding, protein binding, guanylate kinase activity, GO:0046710, GO:0046037, GO:0035082, GO:0030154, GO:0016310, GO:0007283, GDP metabolic process, GMP metabolic process, axoneme assembly, cell differentiation, phosphorylation, spermatogenesis, 1 2 0 3 0 2 0 2 0 ENSG00000155542 chr5 56909260 56925532 + SETD9 protein_coding 133383 GO:0005654, nucleoplasm, GO:0016278, lysine N-methyltransferase activity, GO:1901796, GO:0032259, regulation of signal transduction by p53 class mediator, methylation, 19 22 18 13 22 27 8 11 14 ENSG00000155545 chr5 56919602 56971675 - MIER3 protein_coding 166968 GO:0032991, GO:0005654, GO:0005654, GO:0005634, protein-containing complex, nucleoplasm, nucleoplasm, nucleus, GO:0042826, GO:0004407, GO:0003714, GO:0001103, histone deacetylase binding, histone deacetylase activity, transcription corepressor activity, RNA polymerase II repressing transcription factor binding, GO:0016575, GO:0000122, histone deacetylation, negative regulation of transcription by RNA polymerase II, 76 54 118 91 32 108 47 37 66 ENSG00000155561 chr7 135557919 135648757 + NUP205 protein_coding This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]. 23165 GO:0044611, GO:0043657, GO:0034399, GO:0031965, GO:0016020, GO:0005643, GO:0005643, GO:0005635, nuclear pore inner ring, host cell, nuclear periphery, nuclear membrane, membrane, nuclear pore, nuclear pore, nuclear envelope, GO:0017056, GO:0017056, GO:0005515, structural constituent of nuclear pore, structural constituent of nuclear pore, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0051292, GO:0019083, GO:0016925, GO:0016032, GO:0006999, GO:0006913, GO:0006409, GO:0006406, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, nuclear pore complex assembly, viral transcription, protein sumoylation, viral process, nuclear pore organization, nucleocytoplasmic transport, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, 61 42 90 126 44 140 96 65 71 ENSG00000155592 chr16 25236001 25257931 - ZKSCAN2 protein_coding 342357 GO:0005575, GO:0000785, cellular_component, chromatin, GO:0046872, GO:0003674, GO:0000981, GO:0000978, metal ion binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 16 22 29 31 13 20 17 22 17 ENSG00000155621 chr9 71911510 71986054 + C9orf85 protein_coding 138241 7 11 18 24 17 39 19 14 32 ENSG00000155622 chrX 52369030 52375680 + XAGE2 protein_coding This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing's sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008]. 9502 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000155629 chr10 96593312 96720514 - PIK3AP1 protein_coding 118788 GO:0016020, GO:0005886, GO:0005829, GO:0005829, membrane, plasma membrane, cytosol, cytosol, GO:0042802, GO:0036312, GO:0036312, GO:0005515, GO:0005102, identical protein binding, phosphatidylinositol 3-kinase regulatory subunit binding, phosphatidylinositol 3-kinase regulatory subunit binding, protein binding, signaling receptor binding, GO:0051897, GO:0050727, GO:0034162, GO:0034154, GO:0034142, GO:0034134, GO:0014068, positive regulation of protein kinase B signaling, regulation of inflammatory response, toll-like receptor 9 signaling pathway, toll-like receptor 7 signaling pathway, toll-like receptor 4 signaling pathway, toll-like receptor 2 signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, 3187 3065 2492 922 1716 1207 1327 1461 922 ENSG00000155636 chr2 178112424 178139011 + RBM45 protein_coding This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]. 129831 GO:1990904, GO:0005737, GO:0005654, GO:0005634, ribonucleoprotein complex, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, RNA binding, GO:0030154, GO:0007399, cell differentiation, nervous system development, 14 6 17 31 14 6 20 10 16 ENSG00000155657 chr2 178525989 178830802 - TTN protein_coding This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]. 7273 GO:0070062, GO:0031674, GO:0030018, GO:0005829, GO:0005576, GO:0000794, extracellular exosome, I band, Z disc, cytosol, extracellular region, condensed nuclear chromosome, GO:0106311, GO:0106310, GO:0097493, GO:0097493, GO:0051371, GO:0051015, GO:0043621, GO:0042805, GO:0042805, GO:0042802, GO:0031433, GO:0031433, GO:0019901, GO:0019899, GO:0008307, GO:0008307, GO:0005524, GO:0005516, GO:0005516, GO:0005515, GO:0005509, GO:0004713, GO:0004674, GO:0002020, protein threonine kinase activity, protein serine kinase activity, structural molecule activity conferring elasticity, structural molecule activity conferring elasticity, muscle alpha-actinin binding, actin filament binding, protein self-association, actinin binding, actinin binding, identical protein binding, telethonin binding, telethonin binding, protein kinase binding, enzyme binding, structural constituent of muscle, structural constituent of muscle, ATP binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, protein tyrosine kinase activity, protein serine/threonine kinase activity, protease binding, GO:0060048, GO:0055008, GO:0055003, GO:0051592, GO:0050790, GO:0050714, GO:0050714, GO:0048769, GO:0048739, GO:0045859, GO:0045214, GO:0035995, GO:0035995, GO:0030241, GO:0030240, GO:0030049, GO:0018108, GO:0010737, GO:0010628, GO:0010628, GO:0007076, GO:0006941, GO:0006936, GO:0006936, GO:0003300, GO:0002576, cardiac muscle contraction, cardiac muscle tissue morphogenesis, cardiac myofibril assembly, response to calcium ion, regulation of catalytic activity, positive regulation of protein secretion, positive regulation of protein secretion, sarcomerogenesis, cardiac muscle fiber development, regulation of protein kinase activity, sarcomere organization, detection of muscle stretch, detection of muscle stretch, skeletal muscle myosin thick filament assembly, skeletal muscle thin filament assembly, muscle filament sliding, peptidyl-tyrosine phosphorylation, protein kinase A signaling, positive regulation of gene expression, positive regulation of gene expression, mitotic chromosome condensation, striated muscle contraction, muscle contraction, muscle contraction, cardiac muscle hypertrophy, platelet degranulation, 1689 1517 2103 1265 1521 1808 1660 1223 1563 ENSG00000155659 chrX 66021738 66040125 - VSIG4 protein_coding This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 11326 GO:0032991, GO:0016021, protein-containing complex, integral component of membrane, GO:0005515, GO:0001851, GO:0001851, protein binding, complement component C3b binding, complement component C3b binding, GO:0045957, GO:0045957, GO:0043031, GO:0042130, GO:0032703, GO:0006957, negative regulation of complement activation, alternative pathway, negative regulation of complement activation, alternative pathway, negative regulation of macrophage activation, negative regulation of T cell proliferation, negative regulation of interleukin-2 production, complement activation, alternative pathway, 14 5 26 18 8 30 9 5 18 ENSG00000155660 chr7 149003062 149028641 - PDIA4 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]. 9601 GO:0042470, GO:0009986, GO:0009986, GO:0005788, GO:0005783, GO:0005615, melanosome, cell surface, cell surface, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, GO:0015037, GO:0005515, GO:0003756, GO:0003756, GO:0003723, peptide disulfide oxidoreductase activity, protein binding, protein disulfide isomerase activity, protein disulfide isomerase activity, RNA binding, GO:0061077, GO:0055114, GO:0034976, GO:0009306, GO:0006457, chaperone-mediated protein folding, oxidation-reduction process, response to endoplasmic reticulum stress, protein secretion, protein folding, 68 57 135 153 82 164 109 64 136 ENSG00000155666 chr16 27203495 27221768 + KDM8 protein_coding This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]. 79831 GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0051864, GO:0051864, GO:0046872, GO:0035064, GO:0016706, GO:0005515, GO:0004177, GO:0004175, GO:0003682, histone demethylase activity (H3-K36 specific), histone demethylase activity (H3-K36 specific), metal ion binding, methylated histone binding, 2-oxoglutarate-dependent dioxygenase activity, protein binding, aminopeptidase activity, endopeptidase activity, chromatin binding, GO:0070544, GO:0070544, GO:0055114, GO:0045893, GO:0045892, GO:0032922, GO:0031648, GO:0006508, GO:0000086, histone H3-K36 demethylation, histone H3-K36 demethylation, oxidation-reduction process, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, circadian regulation of gene expression, protein destabilization, proteolysis, G2/M transition of mitotic cell cycle, 10 8 18 25 15 42 13 16 21 ENSG00000155714 chr16 21983865 22001110 - PDZD9 protein_coding 255762 0 6 3 2 1 2 3 2 7 ENSG00000155719 chr16 21663971 21761935 + OTOA protein_coding The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 146183 GO:0031225, GO:0016324, GO:0009986, GO:0005886, GO:0005576, anchored component of membrane, apical plasma membrane, cell surface, plasma membrane, extracellular region, GO:0019226, GO:0007605, GO:0007160, transmission of nerve impulse, sensory perception of sound, cell-matrix adhesion, 0 0 1 0 0 5 0 0 0 ENSG00000155729 chr2 200488952 200519784 - KCTD18 protein_coding 130535 GO:0051260, protein homooligomerization, 69 88 76 50 94 134 54 73 70 ENSG00000155744 chr2 200973718 201071671 - FAM126B protein_coding 285172 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0005515, protein binding, GO:0072659, GO:0046854, protein localization to plasma membrane, phosphatidylinositol phosphorylation, 3848 3435 3286 2142 3436 2955 3030 2466 2535 ENSG00000155749 chr2 201288271 201357398 - ALS2CR12 protein_coding 130540 GO:0036126, GO:0035686, GO:0005737, GO:0005575, GO:0001520, sperm flagellum, sperm fibrous sheath, cytoplasm, cellular_component, outer dense fiber, GO:0005515, GO:0003674, protein binding, molecular_function, 25 34 31 36 35 22 26 23 21 ENSG00000155754 chr2 201487425 201619178 - C2CD6 protein_coding An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]. 151254 GO:0005515, protein binding, 0 0 1 0 1 0 1 1 0 ENSG00000155755 chr2 201620184 201643570 - TMEM237 protein_coding The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 65062 GO:0120200, GO:0120199, GO:0035869, GO:0035869, GO:0032391, GO:0016021, GO:0016020, rod photoreceptor outer segment, cone photoreceptor outer segment, ciliary transition zone, ciliary transition zone, photoreceptor connecting cilium, integral component of membrane, membrane, GO:0005515, protein binding, GO:0060271, GO:0060271, GO:0030111, cilium assembly, cilium assembly, regulation of Wnt signaling pathway, 4 1 5 1 0 7 4 0 8 ENSG00000155760 chr2 202034587 202038445 + FZD7 protein_coding Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]. 8324 GO:0055038, GO:0043231, GO:0016021, GO:0016021, GO:0005886, GO:0005886, GO:0005886, recycling endosome membrane, intracellular membrane-bounded organelle, integral component of membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0042813, GO:0042813, GO:0042813, GO:0030165, GO:0017147, GO:0017147, GO:0017147, GO:0005546, GO:0005515, GO:0005109, GO:0004930, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, PDZ domain binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, frizzled binding, G protein-coupled receptor activity, GO:2000726, GO:0071300, GO:0060828, GO:0060231, GO:0060071, GO:0060071, GO:0060070, GO:0060070, GO:0060070, GO:0060054, GO:0048103, GO:0046330, GO:0045893, GO:0045893, GO:0042666, GO:0042327, GO:0038031, GO:0035567, GO:0034446, GO:0033077, GO:0030182, GO:0019827, GO:0014834, GO:0010812, GO:0007186, GO:0006355, negative regulation of cardiac muscle cell differentiation, cellular response to retinoic acid, regulation of canonical Wnt signaling pathway, mesenchymal to epithelial transition, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of epithelial cell proliferation involved in wound healing, somatic stem cell division, positive regulation of JNK cascade, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of ectodermal cell fate specification, positive regulation of phosphorylation, non-canonical Wnt signaling pathway via JNK cascade, non-canonical Wnt signaling pathway, substrate adhesion-dependent cell spreading, T cell differentiation in thymus, neuron differentiation, stem cell population maintenance, skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration, negative regulation of cell-substrate adhesion, G protein-coupled receptor signaling pathway, regulation of transcription, DNA-templated, 1 5 4 10 6 10 1 4 5 ENSG00000155761 chr1 117953861 118185223 - SPAG17 protein_coding This gene encodes a central pair protein present in the axonemes of cells with a '9 + 2' organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]. 200162 GO:1990716, GO:0031514, GO:0005874, GO:0005576, axonemal central apparatus, motile cilium, microtubule, extracellular region, GO:1904158, GO:0003351, axonemal central apparatus assembly, epithelial cilium movement involved in extracellular fluid movement, 3 5 6 6 7 3 5 2 7 ENSG00000155792 chr8 119873717 120050913 + DEPTOR protein_coding 64798 GO:0005515, protein binding, GO:2001236, GO:0045792, GO:0035556, GO:0032007, GO:0006469, regulation of extrinsic apoptotic signaling pathway, negative regulation of cell size, intracellular signal transduction, negative regulation of TOR signaling, negative regulation of protein kinase activity, 3 0 0 6 0 0 4 0 7 ENSG00000155816 chr1 240014348 240475189 + FMN2 protein_coding This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]. 56776 GO:0048471, GO:0030659, GO:0015629, GO:0005938, GO:0005902, GO:0005886, GO:0005829, GO:0005819, GO:0005789, GO:0005783, GO:0005737, GO:0005730, GO:0005634, GO:0005634, perinuclear region of cytoplasm, cytoplasmic vesicle membrane, actin cytoskeleton, cell cortex, microvillus, plasma membrane, cytosol, spindle, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleolus, nucleus, nucleus, GO:0003779, GO:0003674, actin binding, molecular_function, GO:2000781, GO:0071456, GO:0070649, GO:0051758, GO:0051295, GO:0048477, GO:0046907, GO:0046907, GO:0043066, GO:0042177, GO:0040038, GO:0035556, GO:0016192, GO:0015031, GO:0007275, GO:0006974, GO:0006974, positive regulation of double-strand break repair, cellular response to hypoxia, formin-nucleated actin cable assembly, homologous chromosome movement towards spindle pole in meiosis I anaphase, establishment of meiotic spindle localization, oogenesis, intracellular transport, intracellular transport, negative regulation of apoptotic process, negative regulation of protein catabolic process, polar body extrusion after meiotic divisions, intracellular signal transduction, vesicle-mediated transport, protein transport, multicellular organism development, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000155827 chr9 101533851 101563344 + RNF20 protein_coding The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012]. 56254 GO:0033503, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000151, HULC complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0046872, GO:0042802, GO:0042393, GO:0031625, GO:0005515, GO:0004842, GO:0004842, GO:0003730, GO:0003713, GO:0003682, GO:0002039, metal ion binding, identical protein binding, histone binding, ubiquitin protein ligase binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, mRNA 3'-UTR binding, transcription coactivator activity, chromatin binding, p53 binding, GO:2001168, GO:1900364, GO:0045893, GO:0033523, GO:0031062, GO:0030336, GO:0016567, GO:0010390, GO:0007346, GO:0006511, GO:0006355, GO:0000209, positive regulation of histone H2B ubiquitination, negative regulation of mRNA polyadenylation, positive regulation of transcription, DNA-templated, histone H2B ubiquitination, positive regulation of histone methylation, negative regulation of cell migration, protein ubiquitination, histone monoubiquitination, regulation of mitotic cell cycle, ubiquitin-dependent protein catabolic process, regulation of transcription, DNA-templated, protein polyubiquitination, 433 407 447 181 323 273 236 329 234 ENSG00000155833 chr9 102995311 103018488 + CYLC2 protein_coding Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq, Jul 2008]. 1539 GO:0033150, GO:0005634, cytoskeletal calyx, nucleus, GO:0005200, structural constituent of cytoskeleton, GO:0030154, GO:0007283, GO:0007275, GO:0007010, cell differentiation, spermatogenesis, multicellular organism development, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000155846 chr5 149730298 149855022 + PPARGC1B protein_coding The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 133522 GO:0016592, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0005634, mediator complex, mitochondrion, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0050682, GO:0030374, GO:0030374, GO:0030331, GO:0008134, GO:0003723, GO:0003712, AF-2 domain binding, nuclear receptor coactivator activity, nuclear receptor coactivator activity, estrogen receptor binding, transcription factor binding, RNA binding, transcription coregulator activity, GO:0120162, GO:0060346, GO:0051591, GO:0051384, GO:0051091, GO:0045944, GO:0045944, GO:0045892, GO:0045780, GO:0045672, GO:0042327, GO:0034614, GO:0030520, GO:0010694, GO:0007015, GO:0006390, GO:0006355, GO:0001503, positive regulation of cold-induced thermogenesis, bone trabecula formation, response to cAMP, response to glucocorticoid, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of bone resorption, positive regulation of osteoclast differentiation, positive regulation of phosphorylation, cellular response to reactive oxygen species, intracellular estrogen receptor signaling pathway, positive regulation of alkaline phosphatase activity, actin filament organization, mitochondrial transcription, regulation of transcription, DNA-templated, ossification, 6 0 3 13 7 6 8 12 5 ENSG00000155849 chr7 36854361 37449249 - ELMO1 protein_coding This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 9844 GO:0032045, GO:0032045, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005737, guanyl-nucleotide exchange factor complex, guanyl-nucleotide exchange factor complex, membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0031267, GO:0017124, GO:0005515, GO:0005085, small GTPase binding, SH3 domain binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0050690, GO:0048870, GO:0048870, GO:0048010, GO:0038096, GO:0030036, GO:0016601, GO:0016477, GO:0007015, GO:0006915, GO:0006911, regulation of defense response to virus by virus, cell motility, cell motility, vascular endothelial growth factor receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, actin cytoskeleton organization, Rac protein signal transduction, cell migration, actin filament organization, apoptotic process, phagocytosis, engulfment, 1015 1331 1743 626 1118 1128 768 1027 968 ENSG00000155850 chr5 149960737 149993455 + SLC26A2 protein_coding The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]. 1836 GO:0070062, GO:0031528, GO:0016324, GO:0016020, GO:0005887, GO:0005887, GO:0005886, extracellular exosome, microvillus membrane, apical plasma membrane, membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019531, GO:0015301, GO:0015116, GO:0015116, GO:0015108, GO:0015106, GO:0008271, oxalate transmembrane transporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, GO:1902476, GO:1902358, GO:0050428, GO:0019532, GO:0015701, GO:0006811, GO:0001503, chloride transmembrane transport, sulfate transmembrane transport, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, oxalate transport, bicarbonate transport, ion transport, ossification, 36 46 90 55 59 52 47 49 67 ENSG00000155858 chr5 157743695 157760709 + LSM11 protein_coding 134353 GO:0071204, GO:0016604, GO:0005697, GO:0005683, GO:0005683, GO:0005683, GO:0005654, GO:0005654, GO:0005634, histone pre-mRNA 3'end processing complex, nuclear body, telomerase holoenzyme complex, U7 snRNP, U7 snRNP, U7 snRNP, nucleoplasm, nucleoplasm, nucleus, GO:0071209, GO:0071209, GO:0071209, GO:0005515, U7 snRNA binding, U7 snRNA binding, U7 snRNA binding, protein binding, GO:1900087, GO:0008334, GO:0006398, GO:0006398, GO:0006369, positive regulation of G1/S transition of mitotic cell cycle, histone mRNA metabolic process, mRNA 3'-end processing by stem-loop binding and cleavage, mRNA 3'-end processing by stem-loop binding and cleavage, termination of RNA polymerase II transcription, 9 7 19 25 18 39 8 8 17 ENSG00000155868 chr5 157137412 157159019 - MED7 protein_coding The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 9443 GO:0016604, GO:0016592, GO:0005667, GO:0005654, GO:0000151, nuclear body, mediator complex, transcription regulator complex, nucleoplasm, ubiquitin ligase complex, GO:0061630, GO:0005515, GO:0003713, ubiquitin protein ligase activity, protein binding, transcription coactivator activity, GO:1903508, GO:0019827, GO:0016567, GO:0006367, GO:0006357, GO:0006357, positive regulation of nucleic acid-templated transcription, stem cell population maintenance, protein ubiquitination, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 149 133 157 48 84 75 53 54 80 ENSG00000155875 chr9 18858906 19049358 - SAXO1 protein_coding 158297 GO:0036126, GO:0036126, GO:0036064, GO:0036064, GO:0031514, GO:0005879, GO:0005879, GO:0005856, GO:0005814, GO:0005814, sperm flagellum, sperm flagellum, ciliary basal body, ciliary basal body, motile cilium, axonemal microtubule, axonemal microtubule, cytoskeleton, centriole, centriole, GO:0008017, GO:0008017, GO:0005515, microtubule binding, microtubule binding, protein binding, GO:0070417, GO:0050821, GO:0045724, GO:0034453, GO:0030030, GO:0009631, cellular response to cold, protein stabilization, positive regulation of cilium assembly, microtubule anchoring, cell projection organization, cold acclimation, 0 2 0 0 1 0 0 0 5 ENSG00000155876 chr9 19049395 19050983 + RRAGA protein_coding 10670 GO:1990131, GO:1990130, GO:0034448, GO:0005829, GO:0005765, GO:0005764, GO:0005764, GO:0005737, GO:0005634, GO:0005634, Gtr1-Gtr2 GTPase complex, GATOR1 complex, EGO complex, cytosol, lysosomal membrane, lysosome, lysosome, cytoplasm, nucleus, nucleus, GO:0051219, GO:0046982, GO:0042803, GO:0031625, GO:0005525, GO:0005515, GO:0003924, GO:0003924, phosphoprotein binding, protein heterodimerization activity, protein homodimerization activity, ubiquitin protein ligase binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1904263, GO:0071230, GO:0071230, GO:0034613, GO:0034198, GO:0032008, GO:0032008, GO:0019048, GO:0016567, GO:0016241, GO:0010507, GO:0010506, GO:0009267, GO:0008219, GO:0007050, GO:0006915, positive regulation of TORC1 signaling, cellular response to amino acid stimulus, cellular response to amino acid stimulus, cellular protein localization, cellular response to amino acid starvation, positive regulation of TOR signaling, positive regulation of TOR signaling, modulation by virus of host process, protein ubiquitination, regulation of macroautophagy, negative regulation of autophagy, regulation of autophagy, cellular response to starvation, cell death, cell cycle arrest, apoptotic process, 232 216 232 108 139 135 99 137 125 ENSG00000155886 chr9 19507452 19786928 - SLC24A2 protein_coding This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 25769 GO:0044214, GO:0005887, GO:0005886, GO:0005886, GO:0001917, spanning component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, photoreceptor inner segment, GO:0015293, GO:0008273, GO:0008273, GO:0005262, symporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, calcium channel activity, GO:0098703, GO:0098656, GO:0071805, GO:0070588, GO:0070588, GO:0065003, GO:0060292, GO:0060291, GO:0050896, GO:0035725, GO:0034220, GO:0007613, GO:0007612, GO:0007601, GO:0006874, GO:0006874, GO:0006811, calcium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, calcium ion transmembrane transport, calcium ion transmembrane transport, protein-containing complex assembly, long-term synaptic depression, long-term synaptic potentiation, response to stimulus, sodium ion transmembrane transport, ion transmembrane transport, memory, learning, visual perception, cellular calcium ion homeostasis, cellular calcium ion homeostasis, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000155890 chr3 140678039 140701150 + TRIM42 protein_coding This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]. 287015 GO:0008270, GO:0005515, zinc ion binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000155893 chr3 141228726 141367753 + PXYLP1 protein_coding 92370 GO:0016021, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0016791, GO:0016791, GO:0005515, phosphatase activity, phosphatase activity, protein binding, GO:0050650, GO:0050650, GO:0016311, GO:0010909, GO:0006024, GO:0006024, chondroitin sulfate proteoglycan biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process, dephosphorylation, positive regulation of heparan sulfate proteoglycan biosynthetic process, glycosaminoglycan biosynthetic process, glycosaminoglycan biosynthetic process, 23 43 39 28 86 65 43 65 60 ENSG00000155897 chr8 130780301 131042426 - ADCY8 protein_coding Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]. 114 GO:0099056, GO:0098978, GO:0098686, GO:0098685, GO:0060076, GO:0048786, GO:0045121, GO:0044853, GO:0032809, GO:0030665, GO:0030425, GO:0030424, GO:0016324, GO:0016323, GO:0016020, GO:0015629, GO:0014069, GO:0005905, GO:0005901, GO:0005887, GO:0005886, GO:0005886, integral component of presynaptic membrane, glutamatergic synapse, hippocampal mossy fiber to CA3 synapse, Schaffer collateral - CA1 synapse, excitatory synapse, presynaptic active zone, membrane raft, plasma membrane raft, neuronal cell body membrane, clathrin-coated vesicle membrane, dendrite, axon, apical plasma membrane, basolateral plasma membrane, membrane, actin cytoskeleton, postsynaptic density, clathrin-coated pit, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0051721, GO:0046983, GO:0046982, GO:0046872, GO:0042803, GO:0008294, GO:0005524, GO:0005516, GO:0004016, GO:0004016, GO:0003779, protein phosphatase 2A binding, protein dimerization activity, protein heterodimerization activity, metal ion binding, protein homodimerization activity, calcium- and calmodulin-responsive adenylate cyclase activity, ATP binding, calmodulin binding, adenylate cyclase activity, adenylate cyclase activity, actin binding, GO:1904322, GO:1900454, GO:1900273, GO:0150076, GO:0080135, GO:0071377, GO:0071377, GO:0071333, GO:0071315, GO:0071277, GO:0051480, GO:0051260, GO:0051259, GO:0042593, GO:0038003, GO:0035774, GO:0034199, GO:0034199, GO:0032793, GO:0031915, GO:0010255, GO:0007626, GO:0007616, GO:0007613, GO:0007611, GO:0007204, GO:0007193, GO:0007190, GO:0007189, GO:0007189, GO:0007186, GO:0007165, GO:0006171, GO:0003091, cellular response to forskolin, positive regulation of long-term synaptic depression, positive regulation of long-term synaptic potentiation, neuroinflammatory response, regulation of cellular response to stress, cellular response to glucagon stimulus, cellular response to glucagon stimulus, cellular response to glucose stimulus, cellular response to morphine, cellular response to calcium ion, regulation of cytosolic calcium ion concentration, protein homooligomerization, protein complex oligomerization, glucose homeostasis, opioid receptor signaling pathway, positive regulation of insulin secretion involved in cellular response to glucose stimulus, activation of protein kinase A activity, activation of protein kinase A activity, positive regulation of CREB transcription factor activity, positive regulation of synaptic plasticity, glucose mediated signaling pathway, locomotory behavior, long-term memory, memory, learning or memory, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cAMP biosynthetic process, renal water homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000155903 chr3 141487047 141615342 + RASA2 protein_coding The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 5922 GO:0048471, GO:0005829, perinuclear region of cytoplasm, cytosol, GO:0046872, GO:0005543, GO:0005096, metal ion binding, phospholipid binding, GTPase activator activity, GO:0046580, GO:0043547, GO:0007165, GO:0000165, negative regulation of Ras protein signal transduction, positive regulation of GTPase activity, signal transduction, MAPK cascade, 889 634 1335 781 713 1075 794 535 770 ENSG00000155906 chr6 151404762 151452181 - RMND1 protein_coding The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]. 55005 GO:0005739, mitochondrion, GO:0005515, protein binding, GO:0070131, GO:0070131, GO:0006412, positive regulation of mitochondrial translation, positive regulation of mitochondrial translation, translation, 3 15 13 34 34 24 26 27 37 ENSG00000155918 chr6 150018334 150025532 - RAET1L protein_coding RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008]. 154064 GO:0031225, GO:0009897, GO:0005886, GO:0005783, GO:0005615, GO:0005576, anchored component of membrane, external side of plasma membrane, plasma membrane, endoplasmic reticulum, extracellular space, extracellular region, GO:0005515, protein binding, GO:0016032, GO:0006955, GO:0002376, viral process, immune response, immune system process, 0 0 0 0 0 0 0 0 0 ENSG00000155926 chr8 133036724 133103054 - SLA protein_coding 6503 GO:0043197, GO:0031234, GO:0005925, GO:0005768, dendritic spine, extrinsic component of cytoplasmic side of plasma membrane, focal adhesion, endosome, GO:0005515, GO:0005102, GO:0004715, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, GO:0045087, GO:0042127, GO:0038083, GO:0030154, GO:0009966, GO:0007169, innate immune response, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, cell differentiation, regulation of signal transduction, transmembrane receptor protein tyrosine kinase signaling pathway, 14676 9795 16953 1832 3270 2817 2128 2545 2501 ENSG00000155957 chr12 66135846 66170072 - TMBIM4 protein_coding 51643 GO:0016021, GO:0005795, GO:0000139, integral component of membrane, Golgi stack, Golgi membrane, GO:0005515, protein binding, GO:0050848, GO:0043066, GO:0006915, regulation of calcium-mediated signaling, negative regulation of apoptotic process, apoptotic process, 245 310 419 89 201 230 157 195 168 ENSG00000155959 chrX 155197007 155239817 + VBP1 protein_coding The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. Alternative splicing and the use of alternate transcription start sites results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Jan 2015]. 7411 GO:0043231, GO:0016272, GO:0005844, GO:0005829, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, prefoldin complex, polysome, cytosol, cytoplasm, nucleus, GO:0015631, GO:0005515, tubulin binding, protein binding, GO:0007021, GO:0007017, GO:0006457, tubulin complex assembly, microtubule-based process, protein folding, 230 184 271 136 157 176 176 164 147 ENSG00000155961 chrX 155258241 155264589 - RAB39B protein_coding This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]. 116442 GO:0043005, GO:0031982, GO:0030659, GO:0005886, GO:0005794, GO:0005794, GO:0000139, neuron projection, vesicle, cytoplasmic vesicle membrane, plasma membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0031489, GO:0005525, GO:0005515, GO:0003924, myosin V binding, GTP binding, protein binding, GTPase activity, GO:0050808, GO:0032482, GO:0016192, GO:0015031, GO:0010506, GO:0006914, synapse organization, Rab protein signal transduction, vesicle-mediated transport, protein transport, regulation of autophagy, autophagy, 126 107 139 34 23 74 27 31 40 ENSG00000155962 chrX 155276211 155334657 - CLIC2 protein_coding This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]. 1193 GO:0034707, GO:0005737, GO:0005737, GO:0005634, GO:0005634, chloride channel complex, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, GO:0005254, GO:0005244, GO:0004602, GO:0004364, protein binding, chloride channel activity, voltage-gated ion channel activity, glutathione peroxidase activity, glutathione transferase activity, GO:1902476, GO:0098869, GO:0060315, GO:0051099, GO:0010881, GO:0010880, GO:0007165, chloride transmembrane transport, cellular oxidant detoxification, negative regulation of ryanodine-sensitive calcium-release channel activity, positive regulation of binding, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, signal transduction, 21 20 14 14 23 13 6 7 18 ENSG00000155966 chrX 148500619 149000663 + AFF2 protein_coding This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]. 2334 GO:0032783, GO:0016607, GO:0016607, super elongation complex, nuclear speck, nuclear speck, GO:0002151, GO:0002151, G-quadruplex RNA binding, G-quadruplex RNA binding, GO:0043484, GO:0043484, GO:0035063, GO:0010629, GO:0010468, GO:0010468, GO:0008380, GO:0007611, GO:0007420, GO:0006397, regulation of RNA splicing, regulation of RNA splicing, nuclear speck organization, negative regulation of gene expression, regulation of gene expression, regulation of gene expression, RNA splicing, learning or memory, brain development, mRNA processing, 16 24 23 11 10 3 13 6 10 ENSG00000155970 chr8 17027238 17122644 + MICU3 protein_coding 286097 GO:1990246, GO:0005743, uniplex complex, mitochondrial inner membrane, GO:0005509, calcium ion binding, GO:0051560, GO:0036444, GO:0006851, mitochondrial calcium ion homeostasis, calcium import into the mitochondrion, mitochondrial calcium ion transmembrane transport, 2 3 8 17 5 6 16 10 6 ENSG00000155974 chr12 66347431 67069162 - GRIP1 protein_coding This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]. 23426 GO:0098978, GO:0045211, GO:0045121, GO:0043204, GO:0043005, GO:0031410, GO:0030425, GO:0014069, GO:0005886, GO:0005886, GO:0005829, GO:0005789, glutamatergic synapse, postsynaptic membrane, membrane raft, perikaryon, neuron projection, cytoplasmic vesicle, dendrite, postsynaptic density, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, GO:0035259, GO:0035259, GO:0030159, GO:0008022, GO:0008013, GO:0005515, glucocorticoid receptor binding, glucocorticoid receptor binding, signaling receptor complex adaptor activity, protein C-terminus binding, beta-catenin binding, protein binding, GO:0150012, GO:0099003, GO:0098887, GO:0035556, GO:0016358, positive regulation of neuron projection arborization, vesicle-mediated transport in synapse, neurotransmitter receptor transport, endosome to postsynaptic membrane, intracellular signal transduction, dendrite development, 2 1 5 3 4 2 4 4 1 ENSG00000155975 chr8 17246571 17302427 + VPS37A protein_coding This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]. 137492 GO:0043657, GO:0043231, GO:0043231, GO:0031902, GO:0010008, GO:0005829, GO:0005813, GO:0005654, GO:0000813, GO:0000813, GO:0000813, host cell, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, late endosome membrane, endosome membrane, cytosol, centrosome, nucleoplasm, ESCRT I complex, ESCRT I complex, ESCRT I complex, GO:0005515, protein binding, GO:0075733, GO:0043162, GO:0043162, GO:0043162, GO:0039702, GO:0036258, GO:0032509, GO:0019058, GO:0016236, GO:0016197, GO:0006623, GO:0006612, intracellular transport of virus, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, protein targeting to vacuole, protein targeting to membrane, 362 325 427 169 253 212 234 212 184 ENSG00000155980 chr12 57549998 57586632 + KIF5A protein_coding This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]. 3798 GO:1904115, GO:0048471, GO:0045202, GO:0043204, GO:0035253, GO:0032839, GO:0016020, GO:0005874, GO:0005871, GO:0005829, axon cytoplasm, perinuclear region of cytoplasm, synapse, perikaryon, ciliary rootlet, dendrite cytoplasm, membrane, microtubule, kinesin complex, cytosol, GO:0019894, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003774, kinesin binding, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, motor activity, GO:1990049, GO:0099641, GO:0098971, GO:0048489, GO:0030705, GO:0019886, GO:0016192, GO:0007411, GO:0007268, GO:0007018, GO:0007018, GO:0006890, retrograde neuronal dense core vesicle transport, anterograde axonal protein transport, anterograde dendritic transport of neurotransmitter receptor complex, synaptic vesicle transport, cytoskeleton-dependent intracellular transport, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, axon guidance, chemical synaptic transmission, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 0 0 1 3 3 9 0 0 4 ENSG00000156006 chr8 18391245 18401218 + NAT2 protein_coding This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019]. 10 GO:0005829, cytosol, GO:0005515, GO:0004060, GO:0004060, protein binding, arylamine N-acetyltransferase activity, arylamine N-acetyltransferase activity, GO:0006805, xenobiotic metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000156009 chrX 149881141 149885835 + MAGEA8 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2009]. 4107 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000156011 chr8 18527301 19084730 - PSD3 protein_coding 23362 GO:0032587, GO:0032587, GO:0014069, ruffle membrane, ruffle membrane, postsynaptic density, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0032012, regulation of ARF protein signal transduction, 2 3 2 7 2 3 3 1 0 ENSG00000156017 chr9 74981020 75028423 - CARNMT1 protein_coding The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 138199 GO:0005829, GO:0005829, GO:0005829, GO:0005634, GO:0005634, cytosol, cytosol, cytosol, nucleus, nucleus, GO:0042803, GO:0030735, GO:0030735, GO:0030735, GO:0008757, GO:0008757, GO:0005515, protein homodimerization activity, carnosine N-methyltransferase activity, carnosine N-methyltransferase activity, carnosine N-methyltransferase activity, S-adenosylmethionine-dependent methyltransferase activity, S-adenosylmethionine-dependent methyltransferase activity, protein binding, GO:0035498, GO:0035498, GO:0035498, GO:0032259, GO:0006548, carnosine metabolic process, carnosine metabolic process, carnosine metabolic process, methylation, histidine catabolic process, 29 25 36 26 43 37 35 23 43 ENSG00000156026 chr10 72692131 72887694 + MCU protein_coding This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 90550 GO:1990246, GO:1990246, GO:0034704, GO:0034704, GO:0031305, GO:0031305, GO:0005743, GO:0005743, GO:0005739, uniplex complex, uniplex complex, calcium channel complex, calcium channel complex, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0042802, GO:0015292, GO:0015292, GO:0015292, GO:0005515, GO:0005262, GO:0005262, GO:0005262, identical protein binding, uniporter activity, uniporter activity, uniporter activity, protein binding, calcium channel activity, calcium channel activity, calcium channel activity, GO:0090527, GO:0090141, GO:0090023, GO:0051561, GO:0051561, GO:0051560, GO:0051259, GO:0042593, GO:0036444, GO:0036444, GO:0036444, GO:0032024, GO:0019722, GO:0006851, GO:0006851, GO:0006851, actin filament reorganization, positive regulation of mitochondrial fission, positive regulation of neutrophil chemotaxis, positive regulation of mitochondrial calcium ion concentration, positive regulation of mitochondrial calcium ion concentration, mitochondrial calcium ion homeostasis, protein complex oligomerization, glucose homeostasis, calcium import into the mitochondrion, calcium import into the mitochondrion, calcium import into the mitochondrion, positive regulation of insulin secretion, calcium-mediated signaling, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, 252 216 250 83 203 123 124 152 115 ENSG00000156030 chr14 73715122 73790285 - ELMSAN1 protein_coding 91748 GO:0005667, GO:0005654, GO:0000118, transcription regulator complex, nucleoplasm, histone deacetylase complex, GO:0003714, GO:0003677, transcription corepressor activity, DNA binding, GO:0045892, GO:0016575, GO:0006357, negative regulation of transcription, DNA-templated, histone deacetylation, regulation of transcription by RNA polymerase II, 669 878 1820 879 1063 1746 1108 817 1430 ENSG00000156042 chr10 73253759 73358859 - CFAP70 protein_coding 118491 GO:0070062, GO:0036157, GO:0036126, GO:0036064, GO:0005930, extracellular exosome, outer dynein arm, sperm flagellum, ciliary basal body, axoneme, GO:0003674, molecular_function, GO:0060271, GO:0008150, GO:0003341, cilium assembly, biological_process, cilium movement, 64 79 95 49 98 54 54 44 60 ENSG00000156049 chr9 77423079 77648307 - GNA14 protein_coding This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]. 9630 GO:0070062, GO:0005886, GO:0005834, extracellular exosome, plasma membrane, heterotrimeric G-protein complex, GO:0046872, GO:0031826, GO:0031683, GO:0005525, GO:0005515, GO:0003924, GO:0001664, metal ion binding, type 2A serotonin receptor binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activity, G protein-coupled receptor binding, GO:0060158, GO:0030168, GO:0007188, GO:0007186, GO:0007165, GO:0001508, phospholipase C-activating dopamine receptor signaling pathway, platelet activation, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, action potential, 0 1 0 0 1 0 0 0 0 ENSG00000156050 chr14 73931501 73950414 - FAM161B protein_coding 145483 GO:0015630, GO:0005929, GO:0005881, microtubule cytoskeleton, cilium, cytoplasmic microtubule, GO:0005515, protein binding, GO:0044782, GO:0008150, cilium organization, biological_process, 101 90 120 141 131 134 118 90 90 ENSG00000156052 chr9 77716087 78031458 - GNAQ protein_coding This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]. 2776 GO:0070062, GO:0045202, GO:0031965, GO:0005886, GO:0005834, GO:0005794, GO:0005765, GO:0005737, GO:0001750, extracellular exosome, synapse, nuclear membrane, plasma membrane, heterotrimeric G-protein complex, Golgi apparatus, lysosomal membrane, cytoplasm, photoreceptor outer segment, GO:0046872, GO:0031826, GO:0031683, GO:0005525, GO:0005515, GO:0005096, GO:0005096, GO:0003924, GO:0001664, metal ion binding, type 2A serotonin receptor binding, G-protein beta/gamma-subunit complex binding, GTP binding, protein binding, GTPase activator activity, GTPase activator activity, GTPase activity, G protein-coupled receptor binding, GO:0060828, GO:0050821, GO:0043547, GO:0030168, GO:0009649, GO:0007603, GO:0007596, GO:0007215, GO:0007213, GO:0007202, GO:0007189, GO:0007188, GO:0007186, GO:0006469, GO:0001508, regulation of canonical Wnt signaling pathway, protein stabilization, positive regulation of GTPase activity, platelet activation, entrainment of circadian clock, phototransduction, visible light, blood coagulation, glutamate receptor signaling pathway, G protein-coupled acetylcholine receptor signaling pathway, activation of phospholipase C activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, negative regulation of protein kinase activity, action potential, 4074 3481 3979 1375 1773 1602 1631 1626 1442 ENSG00000156076 chr12 65050626 65121566 - WIF1 protein_coding The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010]. 11197 GO:0009986, GO:0005576, cell surface, extracellular region, GO:0017147, GO:0005515, GO:0005102, Wnt-protein binding, protein binding, signaling receptor binding, GO:0048856, GO:0045600, GO:0030178, GO:0016055, GO:0007275, GO:0007165, anatomical structure development, positive regulation of fat cell differentiation, negative regulation of Wnt signaling pathway, Wnt signaling pathway, multicellular organism development, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000156096 chr4 69480165 69526014 - UGT2B4 protein_coding 7363 GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0015020, GO:0008194, GO:0001972, glucuronosyltransferase activity, UDP-glycosyltransferase activity, retinoic acid binding, GO:0052695, cellular glucuronidation, 0 0 0 0 0 0 0 0 0 ENSG00000156097 chr1 109539872 109548406 + GPR61 protein_coding This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. [provided by RefSeq, Jul 2008]. 83873 GO:0043235, GO:0043235, GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005768, GO:0005768, receptor complex, receptor complex, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, endosome, endosome, GO:1990763, GO:0005515, GO:0004930, GO:0004930, arrestin family protein binding, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0043950, GO:0007186, GO:0007186, positive regulation of cAMP-mediated signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 18 15 14 34 35 37 20 13 17 ENSG00000156103 chr8 88032009 88328025 - MMP16 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 2010]. 4325 GO:0031012, GO:0009986, GO:0005887, GO:0005887, GO:0005886, GO:0005796, extracellular matrix, cell surface, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi lumen, GO:0070006, GO:0070006, GO:0008270, GO:0008047, GO:0004222, GO:0004222, metalloaminopeptidase activity, metalloaminopeptidase activity, zinc ion binding, enzyme activator activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0097094, GO:0048701, GO:0043085, GO:0035988, GO:0030574, GO:0030198, GO:0022617, GO:0016485, GO:0016485, GO:0006508, GO:0006508, GO:0001958, GO:0001501, craniofacial suture morphogenesis, embryonic cranial skeleton morphogenesis, positive regulation of catalytic activity, chondrocyte proliferation, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, protein processing, protein processing, proteolysis, proteolysis, endochondral ossification, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000156110 chr10 74151185 74709303 + ADK protein_coding This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 132 GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005634, cytosol, cytosol, cytosol, nucleoplasm, nucleus, GO:0046872, GO:0005524, GO:0004001, GO:0003723, metal ion binding, ATP binding, adenosine kinase activity, RNA binding, GO:0044209, GO:0043101, GO:0016310, GO:0009156, GO:0006175, GO:0006166, AMP salvage, purine-containing compound salvage, phosphorylation, ribonucleoside monophosphate biosynthetic process, dATP biosynthetic process, purine ribonucleoside salvage, 150 172 173 62 171 82 124 122 103 ENSG00000156113 chr10 76869601 77638369 - KCNMA1 protein_coding MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 3778 GO:0045211, GO:0016324, GO:0016021, GO:0008076, GO:0005901, GO:0005886, postsynaptic membrane, apical plasma membrane, integral component of membrane, voltage-gated potassium channel complex, caveola, plasma membrane, GO:0060072, GO:0060072, GO:0060072, GO:0046872, GO:0015269, GO:0005515, GO:0005249, GO:0005249, GO:0003779, large conductance calcium-activated potassium channel activity, large conductance calcium-activated potassium channel activity, large conductance calcium-activated potassium channel activity, metal ion binding, calcium-activated potassium channel activity, protein binding, voltage-gated potassium channel activity, voltage-gated potassium channel activity, actin binding, GO:0071805, GO:0060087, GO:0060083, GO:0060073, GO:0051592, GO:0045794, GO:0043065, GO:0042391, GO:0034765, GO:0034465, GO:0034465, GO:0030007, GO:0006970, GO:0006813, GO:0001666, potassium ion transmembrane transport, relaxation of vascular associated smooth muscle, smooth muscle contraction involved in micturition, micturition, response to calcium ion, negative regulation of cell volume, positive regulation of apoptotic process, regulation of membrane potential, regulation of ion transmembrane transport, response to carbon monoxide, response to carbon monoxide, cellular potassium ion homeostasis, response to osmotic stress, potassium ion transport, response to hypoxia, 0 7 2 0 12 9 2 5 4 ENSG00000156127 chr14 75522425 75547015 + BATF protein_coding The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008]. 10538 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072540, GO:0072539, GO:0060218, GO:0045944, GO:0045190, GO:0045064, GO:0043011, GO:0042832, GO:0030330, GO:0019221, GO:0006974, GO:0006357, GO:0002320, GO:0001816, T-helper 17 cell lineage commitment, T-helper 17 cell differentiation, hematopoietic stem cell differentiation, positive regulation of transcription by RNA polymerase II, isotype switching, T-helper 2 cell differentiation, myeloid dendritic cell differentiation, defense response to protozoan, DNA damage response, signal transduction by p53 class mediator, cytokine-mediated signaling pathway, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, lymphoid progenitor cell differentiation, cytokine production, 21 23 56 19 35 57 41 39 30 ENSG00000156136 chr4 70992538 71030914 + DCK protein_coding Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]. 1633 GO:0005829, GO:0005739, GO:0005737, GO:0005654, cytosol, mitochondrion, cytoplasm, nucleoplasm, GO:0042803, GO:0019136, GO:0008144, GO:0005524, GO:0004138, GO:0004137, GO:0004137, GO:0004136, protein homodimerization activity, deoxynucleoside kinase activity, drug binding, ATP binding, deoxyguanosine kinase activity, deoxycytidine kinase activity, deoxycytidine kinase activity, deoxyadenosine kinase activity, GO:0043101, GO:0043097, GO:0016310, GO:0006220, GO:0006170, purine-containing compound salvage, pyrimidine nucleoside salvage, phosphorylation, pyrimidine nucleotide metabolic process, dAMP biosynthetic process, 99 80 112 126 94 156 115 88 168 ENSG00000156140 chr4 72280969 72569386 - ADAMTS3 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]. 9508 GO:0070062, GO:0062023, GO:0031012, GO:0031012, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, extracellular matrix, extracellular matrix, extracellular space, extracellular region, GO:0008270, GO:0008201, GO:0005515, GO:0004222, GO:0004222, GO:0004175, zinc ion binding, heparin binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:1900748, GO:0097435, GO:0032964, GO:0030574, GO:0030199, GO:0030199, GO:0030198, GO:0016485, GO:0010573, positive regulation of vascular endothelial growth factor signaling pathway, supramolecular fiber organization, collagen biosynthetic process, collagen catabolic process, collagen fibril organization, collagen fibril organization, extracellular matrix organization, protein processing, vascular endothelial growth factor production, 0 0 0 0 0 0 0 0 0 ENSG00000156150 chr1 110059994 110070700 - ALX3 protein_coding This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]. 257 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048701, GO:0042981, GO:0035116, GO:0035115, GO:0007389, GO:0006357, embryonic cranial skeleton morphogenesis, regulation of apoptotic process, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, pattern specification process, regulation of transcription by RNA polymerase II, 28 20 28 60 57 74 63 37 56 ENSG00000156162 chr8 94719703 94793836 + DPY19L4 protein_coding 286148 GO:0016021, GO:0005637, integral component of membrane, nuclear inner membrane, GO:0000030, mannosyltransferase activity, GO:0018406, protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan, 15 11 8 34 10 37 28 7 34 ENSG00000156170 chr8 94895767 95116455 + NDUFAF6 protein_coding This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]. 137682 GO:0005743, GO:0005743, GO:0005739, GO:0005634, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleus, GO:0032981, GO:0032981, GO:0032981, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, 28 17 19 20 9 25 46 17 29 ENSG00000156171 chr1 111117333 111140216 - DRAM2 protein_coding The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can bind to the mRNA of this gene and produce the disease state. [provided by RefSeq, Mar 2017]. 128338 GO:0043231, GO:0016324, GO:0016021, GO:0005794, GO:0005765, GO:0005764, GO:0005764, GO:0005737, GO:0001917, intracellular membrane-bounded organelle, apical plasma membrane, integral component of membrane, Golgi apparatus, lysosomal membrane, lysosome, lysosome, cytoplasm, photoreceptor inner segment, GO:0045494, GO:0010506, GO:0010506, GO:0007601, GO:0006915, GO:0006914, photoreceptor cell maintenance, regulation of autophagy, regulation of autophagy, visual perception, apoptotic process, autophagy, 65 92 83 108 179 171 73 140 114 ENSG00000156172 chr8 95244919 95269201 - C8orf37 protein_coding This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]. 157657 GO:0097546, GO:0030054, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0001917, ciliary base, cell junction, plasma membrane, cytosol, cytosol, cytoplasm, photoreceptor inner segment, GO:0005515, protein binding, GO:0008594, photoreceptor cell morphogenesis, 3 0 10 6 0 1 14 4 0 ENSG00000156194 chr4 75859864 75902571 - PPEF2 protein_coding This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]. 5470 GO:0005829, GO:0005634, GO:0001917, GO:0001750, cytosol, nucleus, photoreceptor inner segment, photoreceptor outer segment, GO:0106307, GO:0106306, GO:0051879, GO:0051879, GO:0031435, GO:0030544, GO:0030145, GO:0005515, GO:0005509, GO:0005506, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, Hsp90 protein binding, Hsp90 protein binding, mitogen-activated protein kinase kinase kinase binding, Hsp70 protein binding, manganese ion binding, protein binding, calcium ion binding, iron ion binding, protein serine/threonine phosphatase activity, GO:0050906, GO:0043506, GO:0043409, GO:0043409, GO:0043405, GO:0010801, GO:0007601, GO:0006470, detection of stimulus involved in sensory perception, regulation of JUN kinase activity, negative regulation of MAPK cascade, negative regulation of MAPK cascade, regulation of MAP kinase activity, negative regulation of peptidyl-threonine phosphorylation, visual perception, protein dephosphorylation, 12 0 0 9 0 7 5 0 0 ENSG00000156206 chr15 81007033 81149175 + CFAP161 protein_coding 161502 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000156218 chr15 83654086 84039842 + ADAMTSL3 protein_coding 57188 GO:0043231, GO:0031012, intracellular membrane-bounded organelle, extracellular matrix, GO:0005515, GO:0004222, protein binding, metalloendopeptidase activity, GO:0030198, GO:0006508, extracellular matrix organization, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000156219 chr4 76011184 76112802 + ART3 protein_coding This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 419 GO:0070062, GO:0031226, GO:0031225, GO:0005886, GO:0005576, extracellular exosome, intrinsic component of plasma membrane, anchored component of membrane, plasma membrane, extracellular region, GO:0106275, GO:0106274, GO:0003950, NADP+-protein-arginine ADP-ribosyltransferase activity, NAD+-protein-arginine ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, GO:0018120, peptidyl-arginine ADP-ribosylation, 0 0 2 0 0 0 0 1 0 ENSG00000156222 chr15 84884654 84945796 + SLC28A1 protein_coding 9154 GO:0031526, GO:0016020, GO:0005887, GO:0005886, GO:0005886, brush border membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1901474, GO:0015389, GO:0015293, GO:0015213, GO:0015212, GO:0015212, GO:0005415, GO:0005415, GO:0005345, GO:0005337, azole transmembrane transporter activity, pyrimidine- and adenine-specific:sodium symporter activity, symporter activity, uridine transmembrane transporter activity, cytidine transmembrane transporter activity, cytidine transmembrane transporter activity, nucleoside:sodium symporter activity, nucleoside:sodium symporter activity, purine nucleobase transmembrane transporter activity, nucleoside transmembrane transporter activity, GO:1904823, GO:1901642, GO:1901642, GO:0072531, GO:0045117, GO:0015862, GO:0015862, GO:0015861, GO:0015861, GO:0015861, GO:0015858, GO:0015855, GO:0006139, purine nucleobase transmembrane transport, nucleoside transmembrane transport, nucleoside transmembrane transport, pyrimidine-containing compound transmembrane transport, azole transmembrane transport, uridine transport, uridine transport, cytidine transport, cytidine transport, cytidine transport, nucleoside transport, pyrimidine nucleobase transport, nucleobase-containing compound metabolic process, 0 0 0 0 1 0 0 0 0 ENSG00000156232 chr15 82809628 82836108 + WHAMM protein_coding This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]. 123720 GO:0033116, GO:0033116, GO:0030659, GO:0005874, GO:0005829, GO:0005737, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, cytoplasmic vesicle membrane, microtubule, cytosol, cytoplasm, Golgi membrane, GO:0071933, GO:0071933, GO:0031267, GO:0031267, GO:0008017, GO:0003779, Arp2/3 complex binding, Arp2/3 complex binding, small GTPase binding, small GTPase binding, microtubule binding, actin binding, GO:0097320, GO:0090527, GO:0051127, GO:0048041, GO:0034314, GO:0030032, GO:0007050, GO:0007015, GO:0006888, GO:0006888, plasma membrane tubulation, actin filament reorganization, positive regulation of actin nucleation, focal adhesion assembly, Arp2/3 complex-mediated actin nucleation, lamellipodium assembly, cell cycle arrest, actin filament organization, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 164 153 327 292 220 432 315 181 312 ENSG00000156234 chr4 77511753 77611834 + CXCL13 protein_coding B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014]. 10563 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0048248, GO:0048018, GO:0045236, GO:0031735, GO:0031724, GO:0017134, GO:0017134, GO:0008201, GO:0008009, GO:0008009, CXCR3 chemokine receptor binding, receptor ligand activity, CXCR chemokine receptor binding, CCR10 chemokine receptor binding, CXCR5 chemokine receptor binding, fibroblast growth factor binding, fibroblast growth factor binding, heparin binding, chemokine activity, chemokine activity, GO:2000545, GO:0090630, GO:0071222, GO:0070098, GO:0061844, GO:0045765, GO:0042742, GO:0035768, GO:0035754, GO:0033634, GO:0033625, GO:0030593, GO:0010820, GO:0007267, GO:0007204, GO:0007186, GO:0007166, GO:0006955, GO:0006954, GO:0002920, GO:0002544, GO:0002518, GO:0002467, negative regulation of endothelial cell chemotaxis to fibroblast growth factor, activation of GTPase activity, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, regulation of angiogenesis, defense response to bacterium, endothelial cell chemotaxis to fibroblast growth factor, B cell chemotaxis, positive regulation of cell-cell adhesion mediated by integrin, positive regulation of integrin activation, neutrophil chemotaxis, positive regulation of T cell chemotaxis, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, immune response, inflammatory response, regulation of humoral immune response, chronic inflammatory response, lymphocyte chemotaxis across high endothelial venule, germinal center formation, 0 0 0 4 0 0 0 0 0 ENSG00000156239 chr21 28872191 28885371 - N6AMT1 protein_coding This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]. 29104 GO:0035657, GO:0032991, GO:0005829, GO:0005634, eRF1 methyltransferase complex, protein-containing complex, cytosol, nucleus, GO:1904047, GO:0036009, GO:0030792, GO:0018024, GO:0009007, GO:0009007, GO:0008757, GO:0008276, GO:0008276, GO:0005515, GO:0003676, S-adenosyl-L-methionine binding, protein-glutamine N-methyltransferase activity, methylarsonite methyltransferase activity, histone-lysine N-methyltransferase activity, site-specific DNA-methyltransferase (adenine-specific) activity, site-specific DNA-methyltransferase (adenine-specific) activity, S-adenosylmethionine-dependent methyltransferase activity, protein methyltransferase activity, protein methyltransferase activity, protein binding, nucleic acid binding, GO:0034968, GO:0032775, GO:0032775, GO:0032259, GO:0032259, GO:0030307, GO:0018872, GO:0018364, GO:0009404, GO:0006415, histone lysine methylation, DNA methylation on adenine, DNA methylation on adenine, methylation, methylation, positive regulation of cell growth, arsonoacetate metabolic process, peptidyl-glutamine methylation, toxin metabolic process, translational termination, 7 5 13 14 11 12 13 2 6 ENSG00000156253 chr21 29004384 29019378 - RWDD2B protein_coding 10069 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 3 5 12 15 7 12 8 10 4 ENSG00000156256 chr21 29024629 29054488 + USP16 protein_coding This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 10600 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0043130, GO:0042393, GO:0008270, GO:0004843, GO:0004197, GO:0003713, ubiquitin binding, histone binding, zinc ion binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, transcription coactivator activity, GO:0140014, GO:0070537, GO:0051726, GO:0051301, GO:0051289, GO:0045944, GO:0045901, GO:0045893, GO:0035522, GO:0016579, GO:0016578, GO:0006974, GO:0006511, GO:0006357, GO:0000278, mitotic nuclear division, histone H2A K63-linked deubiquitination, regulation of cell cycle, cell division, protein homotetramerization, positive regulation of transcription by RNA polymerase II, positive regulation of translational elongation, positive regulation of transcription, DNA-templated, monoubiquitinated histone H2A deubiquitination, protein deubiquitination, histone deubiquitination, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, regulation of transcription by RNA polymerase II, mitotic cell cycle, 823 629 904 780 659 888 825 606 597 ENSG00000156261 chr21 29055805 29073797 - CCT8 protein_coding This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative splicing results in multiple transcript variants of this gene. A pseudogene related to this gene is located on chromosome 1. [provided by RefSeq, Sep 2013]. 10694 GO:1904813, GO:0070062, GO:0045111, GO:0044297, GO:0035578, GO:0034774, GO:0005929, GO:0005874, GO:0005832, GO:0005832, GO:0005832, GO:0005829, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005576, GO:0002199, ficolin-1-rich granule lumen, extracellular exosome, intermediate filament cytoskeleton, cell body, azurophil granule lumen, secretory granule lumen, cilium, microtubule, chaperonin-containing T-complex, chaperonin-containing T-complex, chaperonin-containing T-complex, cytosol, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, extracellular region, zona pellucida receptor complex, GO:0051082, GO:0045296, GO:0016887, GO:0005524, GO:0005515, unfolded protein binding, cadherin binding, ATPase activity, ATP binding, protein binding, GO:1904874, GO:1904871, GO:1904851, GO:1901998, GO:0050821, GO:0046931, GO:0043312, GO:0032212, GO:0007339, GO:0006457, GO:0006457, positive regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, toxin transport, protein stabilization, pore complex assembly, neutrophil degranulation, positive regulation of telomere maintenance via telomerase, binding of sperm to zona pellucida, protein folding, protein folding, 188 119 254 296 153 291 194 125 229 ENSG00000156265 chr21 29077471 29175889 + MAP3K7CL protein_coding 56911 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, protein binding, 4 5 12 28 8 32 6 4 15 ENSG00000156269 chr4 79225694 79326050 - NAA11 protein_coding 84779 GO:0031415, GO:0031415, GO:0005829, GO:0005813, GO:0005794, GO:0005654, NatA complex, NatA complex, cytosol, centrosome, Golgi apparatus, nucleoplasm, GO:1990190, GO:1990189, GO:0005515, GO:0004596, peptide-glutamate-N-acetyltransferase activity, peptide-serine-N-acetyltransferase activity, protein binding, peptide alpha-N-acetyltransferase activity, GO:0018002, GO:0017198, GO:0006474, N-terminal peptidyl-glutamic acid acetylation, N-terminal peptidyl-serine acetylation, N-terminal protein amino acid acetylation, 0 0 0 0 0 0 0 0 0 ENSG00000156273 chr21 29194071 29630751 + BACH1 protein_coding This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]. 571 GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005634, GO:0000785, GO:0000785, cytosol, cytoplasm, nucleus, nucleus, nucleus, chromatin, chromatin, GO:0020037, GO:0005515, GO:0003700, GO:0001228, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000978, heme binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0061418, GO:0045944, GO:0006357, GO:0006355, GO:0006281, GO:0000122, GO:0000122, GO:0000117, GO:0000083, regulation of transcription from RNA polymerase II promoter in response to hypoxia, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, DNA repair, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, regulation of transcription involved in G2/M transition of mitotic cell cycle, regulation of transcription involved in G1/S transition of mitotic cell cycle, 10811 8447 16938 1499 2588 2112 1940 2253 1783 ENSG00000156282 chr21 30165564 30166756 - CLDN17 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and is clustered with CLDN8 on chromosome 21q22.11. [provided by RefSeq, Jun 2010]. 26285 GO:0034707, GO:0005923, GO:0005923, GO:0005886, GO:0005886, GO:0005886, chloride channel complex, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005254, GO:0005198, identical protein binding, protein binding, chloride channel activity, structural molecule activity, GO:1902476, GO:0070830, GO:0016338, GO:0007155, chloride transmembrane transport, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000156284 chr21 30214006 30216073 - CLDN8 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein plays important roles in the paracellular cation barrier of the distal renal tubule, and in the paracellular barrier to prevent sodium back-leakage in distal colon. Differential expression of this gene has been observed in colorectal carcinoma and renal cell tumors, and along with claudin-7, is an immunohistochemical marker for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma.[provided by RefSeq, May 2010]. 9073 GO:0016021, GO:0005923, GO:0005923, GO:0005886, GO:0005886, GO:0005783, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:0070830, GO:0016338, GO:0007155, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000156298 chrX 38561370 38688920 + TSPAN7 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]. 7102 GO:0005887, integral component of plasma membrane, GO:0005515, protein binding, GO:0016032, viral process, 1 0 0 0 0 0 0 0 0 ENSG00000156299 chr21 31118416 31559977 - TIAM1 protein_coding This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017]. 7074 GO:0099147, GO:0098978, GO:0045202, GO:0044304, GO:0044295, GO:0044291, GO:0043197, GO:0043025, GO:0032587, GO:0031234, GO:0016020, GO:0005911, GO:0005886, GO:0005886, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005634, extrinsic component of postsynaptic density membrane, glutamatergic synapse, synapse, main axon, axonal growth cone, cell-cell contact zone, dendritic spine, neuronal cell body, ruffle membrane, extrinsic component of cytoplasmic side of plasma membrane, membrane, cell-cell junction, plasma membrane, plasma membrane, microtubule, cytosol, cytosol, cytosol, nucleus, GO:0030971, GO:0019900, GO:0008289, GO:0008017, GO:0005515, GO:0005085, GO:0005085, GO:0005085, GO:0005085, GO:0005085, receptor tyrosine kinase binding, kinase binding, lipid binding, microtubule binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000050, GO:1990138, GO:1905274, GO:1904338, GO:1904268, GO:0098989, GO:0090630, GO:0090630, GO:0072657, GO:0070372, GO:0061178, GO:0061003, GO:0060071, GO:0051056, GO:0050772, GO:0048013, GO:0043507, GO:0043065, GO:0042220, GO:0034622, GO:0032092, GO:0030335, GO:0016601, GO:0016477, GO:0010718, GO:0010717, GO:0008284, GO:0007264, GO:0007186, GO:0007160, GO:0006915, GO:0003300, regulation of non-canonical Wnt signaling pathway, neuron projection extension, regulation of modification of postsynaptic actin cytoskeleton, regulation of dopaminergic neuron differentiation, positive regulation of Schwann cell chemotaxis, NMDA selective glutamate receptor signaling pathway, activation of GTPase activity, activation of GTPase activity, protein localization to membrane, regulation of ERK1 and ERK2 cascade, regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of dendritic spine morphogenesis, Wnt signaling pathway, planar cell polarity pathway, regulation of small GTPase mediated signal transduction, positive regulation of axonogenesis, ephrin receptor signaling pathway, positive regulation of JUN kinase activity, positive regulation of apoptotic process, response to cocaine, cellular protein-containing complex assembly, positive regulation of protein binding, positive regulation of cell migration, Rac protein signal transduction, cell migration, positive regulation of epithelial to mesenchymal transition, regulation of epithelial to mesenchymal transition, positive regulation of cell population proliferation, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, cell-matrix adhesion, apoptotic process, cardiac muscle hypertrophy, 37 36 60 123 24 113 86 29 80 ENSG00000156304 chr21 31671033 31732075 - SCAF4 protein_coding This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. 57466 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:1990269, GO:0008022, GO:0003723, GO:0003723, RNA polymerase II C-terminal domain phosphoserine binding, protein C-terminus binding, RNA binding, RNA binding, GO:2000805, GO:0006397, negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled, mRNA processing, 373 378 548 350 360 489 425 343 434 ENSG00000156313 chrX 38269163 38327564 - RPGR protein_coding This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]. 6103 GO:0036126, GO:0036064, GO:0005813, GO:0005794, GO:0005794, GO:0001750, sperm flagellum, ciliary basal body, centrosome, Golgi apparatus, Golgi apparatus, photoreceptor outer segment, GO:0005515, GO:0005085, GO:0003723, protein binding, guanyl-nucleotide exchange factor activity, RNA binding, GO:0060271, GO:0050896, GO:0042073, GO:0007601, GO:0006886, cilium assembly, response to stimulus, intraciliary transport, visual perception, intracellular protein transport, 1135 946 1348 854 994 1048 995 802 941 ENSG00000156345 chr9 87966441 87974753 - CDK20 protein_coding The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009]. 23552 GO:0005929, GO:0005737, GO:0005654, GO:0005634, cilium, cytoplasm, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0004693, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, GO:1990403, GO:1903317, GO:1901621, GO:0061512, GO:0060021, GO:0051726, GO:0051301, GO:0048706, GO:0031076, GO:0021508, GO:0007049, GO:0006468, GO:0001843, embryonic brain development, regulation of protein maturation, negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, protein localization to cilium, roof of mouth development, regulation of cell cycle, cell division, embryonic skeletal system development, embryonic camera-type eye development, floor plate formation, cell cycle, protein phosphorylation, neural tube closure, 25 29 11 109 72 109 120 84 44 ENSG00000156374 chr10 103302796 103351144 - PCGF6 protein_coding The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 84108 GO:0035102, GO:0035102, GO:0031519, GO:0005654, GO:0005634, PRC1 complex, PRC1 complex, PcG protein complex, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0001227, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0070317, GO:0045892, GO:0036353, GO:0036353, GO:0006357, GO:0000122, negative regulation of G0 to G1 transition, negative regulation of transcription, DNA-templated, histone H2A-K119 monoubiquitination, histone H2A-K119 monoubiquitination, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 4 4 11 9 4 17 8 16 ENSG00000156381 chr14 102501760 102509799 - ANKRD9 protein_coding 122416 GO:0005829, cytosol, GO:0043687, post-translational protein modification, 135 126 142 335 406 389 334 314 322 ENSG00000156384 chr10 104122058 104126385 + SFR1 protein_coding 119392 GO:0032798, GO:0032798, GO:0005634, GO:0005634, Swi5-Sfr1 complex, Swi5-Sfr1 complex, nucleus, nucleus, GO:0030374, GO:0030374, GO:0005515, nuclear receptor coactivator activity, nuclear receptor coactivator activity, protein binding, GO:0071391, GO:0045893, GO:0045893, GO:0000724, GO:0000724, cellular response to estrogen stimulus, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 23 25 44 28 28 41 41 36 33 ENSG00000156395 chr10 104641101 105265235 + SORCS3 protein_coding This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]. 22986 GO:0099061, GO:0098978, GO:0016021, GO:0016020, integral component of postsynaptic density membrane, glutamatergic synapse, integral component of membrane, membrane, GO:0008188, GO:0005515, neuropeptide receptor activity, protein binding, GO:1900452, GO:0007613, GO:0007612, GO:0007218, regulation of long-term synaptic depression, memory, learning, neuropeptide signaling pathway, 0 0 2 1 1 9 0 0 2 ENSG00000156398 chr10 102714538 102743492 + SFXN2 protein_coding 118980 GO:0031305, GO:0005739, integral component of mitochondrial inner membrane, mitochondrion, GO:0022889, GO:0022857, GO:0005515, serine transmembrane transporter activity, transmembrane transporter activity, protein binding, GO:1990542, GO:1990542, GO:0140300, mitochondrial transmembrane transport, mitochondrial transmembrane transport, serine import into mitochondrion, 7 3 15 34 16 18 13 3 9 ENSG00000156411 chr14 103912288 103928269 - ATP5MPL protein_coding 9556 GO:0016021, GO:0005753, GO:0005753, GO:0005575, integral component of membrane, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 228 173 231 123 197 221 137 173 156 ENSG00000156413 chr19 5830610 5839731 - FUT6 protein_coding The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 2528 GO:0070062, GO:0032580, GO:0016021, GO:0005794, GO:0005794, GO:0005576, extracellular exosome, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, Golgi apparatus, extracellular region, GO:0046920, GO:0046920, GO:0017083, GO:0008417, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, fucosyltransferase activity, GO:0042355, GO:0036071, GO:0036065, GO:0006672, GO:0006486, GO:0006486, L-fucose catabolic process, N-glycan fucosylation, fucosylation, ceramide metabolic process, protein glycosylation, protein glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000156414 chr14 103928462 104052667 + TDRD9 protein_coding 122402 GO:0071547, GO:0005737, GO:0005634, GO:0005622, piP-body, cytoplasm, nucleus, intracellular anatomical structure, GO:0016887, GO:0005524, GO:0003724, GO:0003723, ATPase activity, ATP binding, RNA helicase activity, RNA binding, GO:0043046, GO:0034587, GO:0031047, GO:0030154, GO:0010529, GO:0010529, GO:0009566, GO:0007283, GO:0007283, GO:0007275, GO:0007141, GO:0007140, DNA methylation involved in gamete generation, piRNA metabolic process, gene silencing by RNA, cell differentiation, negative regulation of transposition, negative regulation of transposition, fertilization, spermatogenesis, spermatogenesis, multicellular organism development, male meiosis I, male meiotic nuclear division, 138 13 96 136 12 74 129 9 87 ENSG00000156427 chr5 171419656 171457623 + FGF18 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008]. 8817 GO:0005737, GO:0005730, GO:0005615, GO:0005576, cytoplasm, nucleolus, extracellular space, extracellular region, GO:0008083, GO:0005111, GO:0005111, GO:0005105, GO:0005105, GO:0005104, growth factor activity, type 2 fibroblast growth factor receptor binding, type 2 fibroblast growth factor receptor binding, type 1 fibroblast growth factor receptor binding, type 1 fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:2000546, GO:1903670, GO:0070374, GO:0051897, GO:0045766, GO:0043536, GO:0043406, GO:0032332, GO:0030949, GO:0030334, GO:0030324, GO:0030154, GO:0010628, GO:0009887, GO:0009653, GO:0008543, GO:0008543, GO:0008284, GO:0007267, GO:0007165, GO:0002063, GO:0001958, GO:0001957, GO:0001936, GO:0001934, GO:0001525, GO:0000165, positive regulation of endothelial cell chemotaxis to fibroblast growth factor, regulation of sprouting angiogenesis, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, positive regulation of angiogenesis, positive regulation of blood vessel endothelial cell migration, positive regulation of MAP kinase activity, positive regulation of chondrocyte differentiation, positive regulation of vascular endothelial growth factor receptor signaling pathway, regulation of cell migration, lung development, cell differentiation, positive regulation of gene expression, animal organ morphogenesis, anatomical structure morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, chondrocyte development, endochondral ossification, intramembranous ossification, regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, angiogenesis, MAPK cascade, 0 0 0 0 1 0 1 0 2 ENSG00000156453 chr5 141853111 141879246 - PCDH1 protein_coding This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]. 5097 GO:0043231, GO:0030054, GO:0005911, GO:0005887, GO:0005886, GO:0005730, GO:0005654, intracellular membrane-bounded organelle, cell junction, cell-cell junction, integral component of plasma membrane, plasma membrane, nucleolus, nucleoplasm, GO:0005509, calcium ion binding, GO:0007399, GO:0007267, GO:0007156, GO:0007155, nervous system development, cell-cell signaling, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 8 1 3 5 3 3 2 4 0 ENSG00000156463 chr5 145936579 146081791 + SH3RF2 protein_coding 153769 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0061630, GO:0046872, GO:0019902, GO:0008157, GO:0008157, GO:0005515, GO:0004864, ubiquitin protein ligase activity, metal ion binding, phosphatase binding, protein phosphatase 1 binding, protein phosphatase 1 binding, protein binding, protein phosphatase inhibitor activity, GO:0051865, GO:0046330, GO:0046329, GO:0043066, GO:0043066, GO:0032515, GO:0032436, GO:0031397, GO:0030335, GO:0010923, GO:0010923, protein autoubiquitination, positive regulation of JNK cascade, negative regulation of JNK cascade, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of phosphoprotein phosphatase activity, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, positive regulation of cell migration, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 0 2 1 0 0 3 0 0 0 ENSG00000156466 chr8 96142330 96160792 - GDF6 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]. 392255 GO:0005615, extracellular space, GO:0042802, GO:0008083, GO:0005125, identical protein binding, growth factor activity, cytokine activity, GO:1990009, GO:1900745, GO:0060395, GO:0060395, GO:0060395, GO:0060389, GO:0045893, GO:0045666, GO:0045444, GO:0032924, GO:0032332, GO:0030509, GO:0010862, GO:0010862, GO:0006915, retinal cell apoptotic process, positive regulation of p38MAPK cascade, SMAD protein signal transduction, SMAD protein signal transduction, SMAD protein signal transduction, pathway-restricted SMAD protein phosphorylation, positive regulation of transcription, DNA-templated, positive regulation of neuron differentiation, fat cell differentiation, activin receptor signaling pathway, positive regulation of chondrocyte differentiation, BMP signaling pathway, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000156467 chr8 96225920 96235634 - UQCRB protein_coding This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]. 7381 GO:0005750, GO:0005746, GO:0005743, mitochondrial respiratory chain complex III, mitochondrial respirasome, mitochondrial inner membrane, GO:0005515, protein binding, GO:0055114, GO:0009060, GO:0006122, GO:0006122, GO:0006119, oxidation-reduction process, aerobic respiration, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, oxidative phosphorylation, 471 379 594 486 345 576 439 336 450 ENSG00000156469 chr8 96239398 96261610 - MTERF3 protein_coding 51001 GO:0005741, GO:0005739, GO:0005739, GO:0005654, mitochondrial outer membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0005515, GO:0000976, protein binding, transcription regulatory region sequence-specific DNA binding, GO:0061668, GO:0045892, GO:0016236, mitochondrial ribosome assembly, negative regulation of transcription, DNA-templated, macroautophagy, 9 2 13 19 4 23 19 14 17 ENSG00000156471 chr8 96261715 96336995 + PTDSS1 protein_coding The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]. 9791 GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0106258, GO:0106258, GO:0106245, GO:0106245, GO:0016740, L-serine-phosphatidylcholine phosphatidyltransferase activity, L-serine-phosphatidylcholine phosphatidyltransferase activity, L-serine-phosphatidylethanolamine phosphatidyltransferase activity, L-serine-phosphatidylethanolamine phosphatidyltransferase activity, transferase activity, GO:0006659, GO:0006659, GO:0006659, phosphatidylserine biosynthetic process, phosphatidylserine biosynthetic process, phosphatidylserine biosynthetic process, 79 84 161 216 109 207 127 90 133 ENSG00000156475 chr5 146581146 147084784 - PPP2R2B protein_coding The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]. 5521 GO:0005856, GO:0005829, GO:0005741, GO:0005739, GO:0000159, cytoskeleton, cytosol, mitochondrial outer membrane, mitochondrion, protein phosphatase type 2A complex, GO:0019888, GO:0005515, protein phosphatase regulator activity, protein binding, GO:0070262, GO:0043666, GO:0006915, peptidyl-serine dephosphorylation, regulation of phosphoprotein phosphatase activity, apoptotic process, 5 3 17 28 20 46 32 10 49 ENSG00000156482 chr8 98024851 98046469 - RPL30 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6156 GO:0070062, GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0014069, GO:0014069, GO:0005925, GO:0005829, GO:0005634, extracellular exosome, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, postsynaptic density, postsynaptic density, focal adhesion, cytosol, nucleus, GO:0005515, GO:0003735, GO:0003735, GO:0003735, GO:0003723, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, RNA binding, GO:0061844, GO:0050829, GO:0031640, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0002181, GO:0000184, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-negative bacterium, killing of cells of other organism, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1175 1048 1568 1734 1254 2248 1500 1195 1581 ENSG00000156486 chr8 98427022 98432848 + KCNS2 protein_coding 3788 GO:0048471, GO:0016021, GO:0008076, GO:0008076, GO:0005886, GO:0005886, perinuclear region of cytoplasm, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0005515, GO:0005249, protein binding, voltage-gated potassium channel activity, GO:1902259, GO:1902259, GO:0071805, GO:0051260, GO:0006813, regulation of delayed rectifier potassium channel activity, regulation of delayed rectifier potassium channel activity, potassium ion transmembrane transport, protein homooligomerization, potassium ion transport, 1 1 2 0 5 2 5 4 0 ENSG00000156500 chrX 134796395 134854835 + FAM122C protein_coding 159091 148 144 148 177 229 279 186 157 179 ENSG00000156502 chr10 69180232 69209099 + SUPV3L1 protein_coding 6832 GO:0045025, GO:0045025, GO:0042645, GO:0005759, GO:0005739, GO:0005634, mitochondrial degradosome, mitochondrial degradosome, mitochondrial nucleoid, mitochondrial matrix, mitochondrion, nucleus, GO:0042803, GO:0034458, GO:0005524, GO:0005515, GO:0004386, GO:0003725, GO:0003724, GO:0003724, GO:0003723, GO:0003678, GO:0003677, protein homodimerization activity, 3'-5' RNA helicase activity, ATP binding, protein binding, helicase activity, double-stranded RNA binding, RNA helicase activity, RNA helicase activity, RNA binding, DNA helicase activity, DNA binding, GO:2000827, GO:0070827, GO:0070584, GO:0043066, GO:0035946, GO:0035945, GO:0032508, GO:0030307, GO:0006401, GO:0006401, GO:0006310, GO:0000965, GO:0000965, GO:0000962, GO:0000962, GO:0000958, mitochondrial RNA surveillance, chromatin maintenance, mitochondrion morphogenesis, negative regulation of apoptotic process, mitochondrial mRNA surveillance, mitochondrial ncRNA surveillance, DNA duplex unwinding, positive regulation of cell growth, RNA catabolic process, RNA catabolic process, DNA recombination, mitochondrial RNA 3'-end processing, mitochondrial RNA 3'-end processing, positive regulation of mitochondrial RNA catabolic process, positive regulation of mitochondrial RNA catabolic process, mitochondrial mRNA catabolic process, 77 117 112 75 84 96 70 64 83 ENSG00000156504 chrX 134769566 134797232 - FAM122B protein_coding 159090 164 211 270 158 162 240 144 130 150 ENSG00000156508 chr6 73515750 73523797 - EEF1A1 protein_coding This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]. 1915 GO:1904813, GO:0098574, GO:0070062, GO:0034774, GO:0032587, GO:0030864, GO:0016020, GO:0005886, GO:0005853, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005730, GO:0005634, GO:0005634, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, cytoplasmic side of lysosomal membrane, extracellular exosome, secretory granule lumen, ruffle membrane, cortical actin cytoskeleton, membrane, plasma membrane, eukaryotic translation elongation factor 1 complex, cytosol, cytosol, cytoplasm, cytoplasm, cytoplasm, nucleolus, nucleus, nucleus, extracellular space, extracellular region, GO:0019901, GO:0019900, GO:0005525, GO:0005515, GO:0003924, GO:0003746, GO:0003746, GO:0003723, GO:0000049, protein kinase binding, kinase binding, GTP binding, protein binding, GTPase activity, translation elongation factor activity, translation elongation factor activity, RNA binding, tRNA binding, GO:1904714, GO:1900022, GO:0071364, GO:0043312, GO:0006414, GO:0006414, GO:0006412, regulation of chaperone-mediated autophagy, regulation of D-erythro-sphingosine kinase activity, cellular response to epidermal growth factor stimulus, neutrophil degranulation, translational elongation, translational elongation, translation, 10481 8469 17831 30429 15249 35148 22644 12274 23760 ENSG00000156509 chr8 100133360 100145800 - FBXO43 protein_coding Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 286151 GO:0005634, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0051321, GO:0045835, GO:0016567, GO:0007088, meiotic cell cycle, negative regulation of meiotic nuclear division, protein ubiquitination, regulation of mitotic nuclear division, 0 0 0 0 0 3 0 0 0 ENSG00000156510 chr10 69220303 69267559 + HKDC1 protein_coding This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]. 80201 GO:0031966, GO:0005829, GO:0005739, GO:0005739, mitochondrial membrane, cytosol, mitochondrion, mitochondrion, GO:0019158, GO:0008865, GO:0005536, GO:0005524, GO:0004340, GO:0004340, mannokinase activity, fructokinase activity, glucose binding, ATP binding, glucokinase activity, glucokinase activity, GO:0051156, GO:0051156, GO:0046835, GO:0019318, GO:0006096, GO:0006096, GO:0001678, GO:0001678, glucose 6-phosphate metabolic process, glucose 6-phosphate metabolic process, carbohydrate phosphorylation, hexose metabolic process, glycolytic process, glycolytic process, cellular glucose homeostasis, cellular glucose homeostasis, 4 0 1 11 4 2 15 5 9 ENSG00000156515 chr10 69269984 69401884 + HK1 protein_coding Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]. 3098 GO:0045121, GO:0005829, GO:0005829, GO:0005741, GO:0005739, GO:0005739, GO:0005739, membrane raft, cytosol, cytosol, mitochondrial outer membrane, mitochondrion, mitochondrion, mitochondrion, GO:0042834, GO:0042802, GO:0019158, GO:0019158, GO:0008865, GO:0008865, GO:0005536, GO:0005524, GO:0005515, GO:0004396, GO:0004340, GO:0004340, peptidoglycan binding, identical protein binding, mannokinase activity, mannokinase activity, fructokinase activity, fructokinase activity, glucose binding, ATP binding, protein binding, hexokinase activity, glucokinase activity, glucokinase activity, GO:0072656, GO:0072655, GO:0061621, GO:0051156, GO:0051156, GO:0046835, GO:0045087, GO:0032731, GO:0006954, GO:0006096, GO:0006013, GO:0006002, GO:0002720, GO:0001678, maintenance of protein location in mitochondrion, establishment of protein localization to mitochondrion, canonical glycolysis, glucose 6-phosphate metabolic process, glucose 6-phosphate metabolic process, carbohydrate phosphorylation, innate immune response, positive regulation of interleukin-1 beta production, inflammatory response, glycolytic process, mannose metabolic process, fructose 6-phosphate metabolic process, positive regulation of cytokine production involved in immune response, cellular glucose homeostasis, 284 335 530 308 304 376 327 251 357 ENSG00000156521 chr10 70137981 70146676 - TYSND1 protein_coding This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]. 219743 GO:0016020, GO:0005829, GO:0005782, GO:0005777, GO:0005777, membrane, cytosol, peroxisomal matrix, peroxisome, peroxisome, GO:0004252, GO:0004252, GO:0004252, GO:0002020, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, protease binding, GO:0031998, GO:0031998, GO:0016485, GO:0016485, GO:0016485, GO:0006625, GO:0006508, regulation of fatty acid beta-oxidation, regulation of fatty acid beta-oxidation, protein processing, protein processing, protein processing, protein targeting to peroxisome, proteolysis, 24 30 36 77 50 93 38 30 78 ENSG00000156531 chrX 134373253 134428791 + PHF6 protein_coding This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]. 84295 GO:0005730, GO:0005654, GO:0005634, GO:0000777, nucleolus, nucleoplasm, nucleus, condensed chromosome kinetochore, GO:0097110, GO:0051219, GO:0046872, GO:0043021, GO:0042826, GO:0042826, GO:0042393, GO:0042393, GO:0019899, GO:0015631, GO:0005515, GO:0003723, GO:0003677, scaffold protein binding, phosphoprotein binding, metal ion binding, ribonucleoprotein complex binding, histone deacetylase binding, histone deacetylase binding, histone binding, histone binding, enzyme binding, tubulin binding, protein binding, RNA binding, DNA binding, GO:0006357, GO:0001835, GO:0000122, regulation of transcription by RNA polymerase II, blastocyst hatching, negative regulation of transcription by RNA polymerase II, 66 56 111 79 41 93 68 42 88 ENSG00000156535 chr6 73695785 73828316 + CD109 protein_coding This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. 135228 GO:0031225, GO:0031092, GO:0009986, GO:0005886, GO:0005886, GO:0005829, GO:0005615, GO:0005576, anchored component of membrane, platelet alpha granule membrane, cell surface, plasma membrane, plasma membrane, cytosol, extracellular space, extracellular region, GO:0050431, GO:0004867, transforming growth factor beta binding, serine-type endopeptidase inhibitor activity, GO:0072675, GO:0061045, GO:0045616, GO:0030512, GO:0010951, GO:0010839, GO:0002576, GO:0001942, GO:0001933, osteoclast fusion, negative regulation of wound healing, regulation of keratinocyte differentiation, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of endopeptidase activity, negative regulation of keratinocyte proliferation, platelet degranulation, hair follicle development, negative regulation of protein phosphorylation, 7 1 7 4 13 10 7 2 8 ENSG00000156564 chr6 40391586 40587465 - LRFN2 protein_coding 57497 GO:0099061, GO:0098685, GO:0009986, GO:0005886, integral component of postsynaptic density membrane, Schaffer collateral - CA1 synapse, cell surface, plasma membrane, GO:0099175, GO:0050804, regulation of postsynapse organization, modulation of chemical synaptic transmission, 0 0 0 0 5 0 0 0 0 ENSG00000156574 chr10 70432315 70447951 - NODAL protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016]. 4838 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0070698, GO:0070698, GO:0016015, GO:0008083, GO:0005515, GO:0005125, type I activin receptor binding, type I activin receptor binding, morphogen activity, growth factor activity, protein binding, cytokine activity, GO:2000036, GO:1901383, GO:1901164, GO:1900224, GO:1900164, GO:0090010, GO:0070374, GO:0060802, GO:0060766, GO:0060460, GO:0060395, GO:0060391, GO:0060137, GO:0060136, GO:0051091, GO:0050679, GO:0048859, GO:0048701, GO:0048546, GO:0048382, GO:0048327, GO:0045944, GO:0045766, GO:0043280, GO:0042074, GO:0035987, GO:0033505, GO:0032927, GO:0030509, GO:0022409, GO:0019827, GO:0010862, GO:0010862, GO:0010721, GO:0010575, GO:0010470, GO:0010085, GO:0009880, GO:0007420, GO:0002085, GO:0001947, GO:0001944, GO:0001893, GO:0001892, GO:0001890, GO:0001889, GO:0001842, GO:0001831, GO:0000122, regulation of stem cell population maintenance, negative regulation of chorionic trophoblast cell proliferation, negative regulation of trophoblast cell migration, positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry, nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry, transforming growth factor beta receptor signaling pathway involved in primitive streak formation, positive regulation of ERK1 and ERK2 cascade, epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification, negative regulation of androgen receptor signaling pathway, left lung morphogenesis, SMAD protein signal transduction, positive regulation of SMAD protein signal transduction, maternal process involved in parturition, embryonic process involved in female pregnancy, positive regulation of DNA-binding transcription factor activity, positive regulation of epithelial cell proliferation, formation of anatomical boundary, embryonic cranial skeleton morphogenesis, digestive tract morphogenesis, mesendoderm development, axial mesodermal cell fate specification, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, cell migration involved in gastrulation, endodermal cell differentiation, floor plate morphogenesis, positive regulation of activin receptor signaling pathway, BMP signaling pathway, positive regulation of cell-cell adhesion, stem cell population maintenance, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of cell development, positive regulation of vascular endothelial growth factor production, regulation of gastrulation, polarity specification of proximal/distal axis, embryonic pattern specification, brain development, inhibition of neuroepithelial cell differentiation, heart looping, vasculature development, maternal placenta development, embryonic placenta development, placenta development, liver development, neural fold formation, trophectodermal cellular morphogenesis, negative regulation of transcription by RNA polymerase II, 31 34 34 28 47 34 52 22 42 ENSG00000156575 chr11 57376769 57381150 - PRG3 protein_coding 10394 GO:1904724, GO:0062023, GO:0035580, GO:0005576, tertiary granule lumen, collagen-containing extracellular matrix, specific granule lumen, extracellular region, GO:0030246, GO:0030021, GO:0030021, carbohydrate binding, extracellular matrix structural constituent conferring compression resistance, extracellular matrix structural constituent conferring compression resistance, GO:0045575, GO:0043312, GO:0042554, GO:0042119, GO:0032757, GO:0019370, GO:0017148, GO:0001694, basophil activation, neutrophil degranulation, superoxide anion generation, neutrophil activation, positive regulation of interleukin-8 production, leukotriene biosynthetic process, negative regulation of translation, histamine biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000156587 chr11 57551656 57568284 - UBE2L6 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011]. 9246 GO:0005829, GO:0005654, GO:0005634, GO:0000151, cytosol, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0061631, GO:0043130, GO:0042296, GO:0031625, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin binding, ISG15 transferase activity, ubiquitin protein ligase binding, protein binding, ubiquitin-protein transferase activity, GO:0044267, GO:0032480, GO:0032020, GO:0019985, GO:0006511, GO:0006464, GO:0000209, cellular protein metabolic process, negative regulation of type I interferon production, ISG15-protein conjugation, translesion synthesis, ubiquitin-dependent protein catabolic process, cellular protein modification process, protein polyubiquitination, 817 707 914 276 546 413 404 520 423 ENSG00000156599 chr11 57667747 57701187 + ZDHHC5 protein_coding 25921 GO:0045335, GO:0030425, GO:0016021, GO:0016020, GO:0005886, GO:0005886, phagocytic vesicle, dendrite, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0019706, GO:0016409, GO:0016409, GO:0005515, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, palmitoyltransferase activity, protein binding, GO:1905171, GO:1903078, GO:0062208, GO:0018345, GO:0018345, positive regulation of protein localization to phagocytic vesicle, positive regulation of protein localization to plasma membrane, positive regulation of pattern recognition receptor signaling pathway, protein palmitoylation, protein palmitoylation, 1111 1060 1287 499 658 477 564 534 459 ENSG00000156603 chr11 57703714 57712323 - MED19 protein_coding The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 219541 GO:0016592, mediator complex, GO:0008134, GO:0005515, GO:0003712, transcription factor binding, protein binding, transcription coregulator activity, GO:0045944, positive regulation of transcription by RNA polymerase II, 79 75 75 36 38 41 45 36 35 ENSG00000156639 chr6 37819499 38154624 + ZFAND3 protein_coding 60685 GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, 2032 2060 2307 700 1252 1069 971 1142 912 ENSG00000156642 chr15 73560014 73634134 - NPTN protein_coding This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]. 27020 GO:0099061, GO:0098685, GO:0060077, GO:0042734, GO:0030425, GO:0030424, GO:0009986, GO:0005886, GO:0001772, integral component of postsynaptic density membrane, Schaffer collateral - CA1 synapse, inhibitory synapse, presynaptic membrane, dendrite, axon, cell surface, plasma membrane, immunological synapse, GO:0098632, GO:0050839, GO:0044325, GO:0005515, GO:0005105, cell-cell adhesion mediator activity, cell adhesion molecule binding, ion channel binding, protein binding, type 1 fibroblast growth factor receptor binding, GO:1904861, GO:1903829, GO:1902683, GO:1900273, GO:0099557, GO:0070593, GO:0070374, GO:0060291, GO:0048170, GO:0045743, GO:0010976, GO:0008542, GO:0007411, GO:0007204, GO:0007156, GO:0007156, GO:0006874, GO:0001934, GO:0001818, excitatory synapse assembly, positive regulation of cellular protein localization, regulation of receptor localization to synapse, positive regulation of long-term synaptic potentiation, trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission, dendrite self-avoidance, positive regulation of ERK1 and ERK2 cascade, long-term synaptic potentiation, positive regulation of long-term neuronal synaptic plasticity, positive regulation of fibroblast growth factor receptor signaling pathway, positive regulation of neuron projection development, visual learning, axon guidance, positive regulation of cytosolic calcium ion concentration, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cellular calcium ion homeostasis, positive regulation of protein phosphorylation, negative regulation of cytokine production, 1048 1207 1255 494 916 646 592 735 598 ENSG00000156650 chr10 74824927 75032624 + KAT6B protein_coding The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]. 23522 GO:0070776, GO:0070776, GO:0005654, GO:0005634, GO:0000786, GO:0000785, MOZ/MORF histone acetyltransferase complex, MOZ/MORF histone acetyltransferase complex, nucleoplasm, nucleus, nucleosome, chromatin, GO:0046872, GO:0042393, GO:0016407, GO:0008134, GO:0005515, GO:0004402, GO:0004402, GO:0003712, GO:0003677, metal ion binding, histone binding, acetyltransferase activity, transcription factor binding, protein binding, histone acetyltransferase activity, histone acetyltransferase activity, transcription coregulator activity, DNA binding, GO:1990830, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0043966, GO:0043966, GO:0016573, GO:0006355, GO:0006334, cellular response to leukemia inhibitory factor, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, histone H3 acetylation, histone H3 acetylation, histone acetylation, regulation of transcription, DNA-templated, nucleosome assembly, 243 346 426 257 259 310 266 211 279 ENSG00000156671 chr10 75099586 75182123 + SAMD8 protein_coding 142891 GO:0030176, GO:0030176, GO:0030173, GO:0016021, GO:0005887, GO:0005829, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, integral component of membrane, integral component of plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0047493, GO:0033188, GO:0003674, GO:0002950, ceramide cholinephosphotransferase activity, sphingomyelin synthase activity, molecular_function, ceramide phosphoethanolamine synthase activity, GO:2000303, GO:1905373, GO:0046513, GO:0046513, GO:0030148, GO:0006686, regulation of ceramide biosynthetic process, ceramide phosphoethanolamine biosynthetic process, ceramide biosynthetic process, ceramide biosynthetic process, sphingolipid biosynthetic process, sphingomyelin biosynthetic process, 1981 1639 2546 730 1330 1318 1053 1035 1098 ENSG00000156675 chr8 37858618 37899467 - RAB11FIP1 protein_coding This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]. 80223 GO:0055037, GO:0043231, GO:0043231, GO:0030670, GO:0005829, recycling endosome, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, phagocytic vesicle membrane, cytosol, GO:0031267, small GTPase binding, GO:0070164, GO:0045055, GO:0015031, negative regulation of adiponectin secretion, regulated exocytosis, protein transport, 7720 9441 10772 2778 6628 4588 3532 5067 4314 ENSG00000156687 chr8 35235457 35796550 + UNC5D protein_coding 137970 GO:0016021, GO:0009986, GO:0005886, integral component of membrane, cell surface, plasma membrane, GO:0005042, netrin receptor activity, GO:2001222, GO:0098742, GO:0038007, GO:0021859, GO:0007411, GO:0006915, regulation of neuron migration, cell-cell adhesion via plasma-membrane adhesion molecules, netrin-activated signaling pathway, pyramidal neuron differentiation, axon guidance, apoptotic process, 0 0 0 1 0 0 0 0 0 ENSG00000156689 chr11 58834065 58904215 - GLYATL2 protein_coding 219970 GO:0005783, GO:0005739, endoplasmic reticulum, mitochondrion, GO:0047961, GO:0047961, GO:0016410, glycine N-acyltransferase activity, glycine N-acyltransferase activity, N-acyltransferase activity, GO:1903965, GO:0051793, GO:0042758, monounsaturated fatty acid catabolic process, medium-chain fatty acid catabolic process, long-chain fatty acid catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000156697 chrX 129906121 129929761 + UTP14A protein_coding This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. 10813 GO:0032040, GO:0005829, GO:0005730, GO:0005730, GO:0005654, small-subunit processome, cytosol, nucleolus, nucleolus, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006364, rRNA processing, 45 33 46 96 34 43 69 33 42 ENSG00000156709 chrX 130129362 130165887 - AIFM1 protein_coding This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]. 9131 GO:0048471, GO:0005829, GO:0005758, GO:0005743, GO:0005739, GO:0005634, GO:0005634, perinuclear region of cytoplasm, cytosol, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, nucleus, nucleus, GO:0071949, GO:0046983, GO:0016651, GO:0016174, GO:0016174, GO:0005515, GO:0003677, FAD binding, protein dimerization activity, oxidoreductase activity, acting on NAD(P)H, NAD(P)H oxidase H2O2-forming activity, NAD(P)H oxidase H2O2-forming activity, protein binding, DNA binding, GO:1904045, GO:1902065, GO:0090650, GO:0071732, GO:0071392, GO:0070301, GO:0070059, GO:0055114, GO:0045041, GO:0043525, GO:0043065, GO:0033108, GO:0030261, GO:0009636, GO:0006919, GO:0006915, GO:0002931, cellular response to aldosterone, response to L-glutamate, cellular response to oxygen-glucose deprivation, cellular response to nitric oxide, cellular response to estradiol stimulus, cellular response to hydrogen peroxide, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, oxidation-reduction process, protein import into mitochondrial intermembrane space, positive regulation of neuron apoptotic process, positive regulation of apoptotic process, mitochondrial respiratory chain complex assembly, chromosome condensation, response to toxic substance, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, response to ischemia, 27 29 32 44 42 42 33 30 37 ENSG00000156711 chr6 36127809 36144524 + MAPK13 protein_coding This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]. 5603 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0004707, GO:0004707, GO:0004674, ATP binding, protein binding, MAP kinase activity, MAP kinase activity, protein serine/threonine kinase activity, GO:1903936, GO:0072740, GO:0072709, GO:0071347, GO:0070301, GO:0051403, GO:0050729, GO:0035556, GO:0034644, GO:0032755, GO:0018105, GO:0010468, GO:0007049, GO:0006970, cellular response to sodium arsenite, cellular response to anisomycin, cellular response to sorbitol, cellular response to interleukin-1, cellular response to hydrogen peroxide, stress-activated MAPK cascade, positive regulation of inflammatory response, intracellular signal transduction, cellular response to UV, positive regulation of interleukin-6 production, peptidyl-serine phosphorylation, regulation of gene expression, cell cycle, response to osmotic stress, 2974 2997 4284 3119 4029 5550 3460 2857 3616 ENSG00000156735 chr8 38176533 38213301 + BAG4 protein_coding The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]. 9530 GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, membrane, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0051087, GO:0031625, GO:0031072, GO:0005515, GO:0003723, GO:0000774, chaperone binding, ubiquitin protein ligase binding, heat shock protein binding, protein binding, RNA binding, adenyl-nucleotide exchange factor activity, GO:2001145, GO:1903215, GO:1900034, GO:0097178, GO:0072659, GO:0071364, GO:0071356, GO:0051897, GO:0051496, GO:0050821, GO:0045785, GO:0043066, GO:0033209, GO:0033138, GO:0030838, GO:0010763, GO:0006457, negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity, negative regulation of protein targeting to mitochondrion, regulation of cellular response to heat, ruffle assembly, protein localization to plasma membrane, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, positive regulation of protein kinase B signaling, positive regulation of stress fiber assembly, protein stabilization, positive regulation of cell adhesion, negative regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of actin filament polymerization, positive regulation of fibroblast migration, protein folding, 82 96 117 92 107 94 76 98 128 ENSG00000156738 chr11 60455752 60470760 + MS4A1 protein_coding This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]. 931 GO:0070062, GO:0044853, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005654, GO:0005615, extracellular exosome, plasma membrane raft, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, nucleoplasm, extracellular space, GO:0023026, GO:0019865, GO:0005515, GO:0005154, MHC class II protein complex binding, immunoglobulin binding, protein binding, epidermal growth factor receptor binding, GO:1902656, GO:0051262, GO:0050853, GO:0042113, GO:0042100, GO:0030183, GO:0009617, GO:0006959, GO:0002115, calcium ion import into cytosol, protein tetramerization, B cell receptor signaling pathway, B cell activation, B cell proliferation, B cell differentiation, response to bacterium, humoral immune response, store-operated calcium entry, 23 95 55 132 184 141 78 167 119 ENSG00000156755 chr9 64765054 64765535 - IGKV1OR-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000156787 chr8 123041968 123152153 + TBC1D31 protein_coding 93594 GO:0005813, GO:0005813, centrosome, centrosome, 60 74 123 65 58 93 65 49 60 ENSG00000156795 chr8 123416725 123470028 + WDYHV1 protein_coding 55093 GO:0005829, GO:0005829, GO:0005634, GO:0005634, cytosol, cytosol, nucleus, nucleus, GO:0070773, GO:0070773, GO:0008418, GO:0005515, protein-N-terminal glutamine amidohydrolase activity, protein-N-terminal glutamine amidohydrolase activity, protein-N-terminal asparagine amidohydrolase activity, protein binding, GO:0006464, GO:0006464, cellular protein modification process, cellular protein modification process, 2 8 2 10 17 7 4 4 3 ENSG00000156802 chr8 123319850 123416350 - ATAD2 protein_coding A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]. 29028 GO:0070062, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, nucleoplasm, nucleoplasm, nucleus, GO:0042393, GO:0016887, GO:0016887, GO:0005524, GO:0005515, GO:0003682, histone binding, ATPase activity, ATPase activity, ATP binding, protein binding, chromatin binding, GO:0045944, GO:0045893, GO:0031936, GO:0006357, GO:0006325, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of chromatin silencing, regulation of transcription by RNA polymerase II, chromatin organization, 76 57 171 115 36 192 107 43 68 ENSG00000156804 chr8 123497889 123541206 - FBXO32 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]. 114907 GO:0030018, GO:0019005, GO:0005829, GO:0005829, GO:0005737, GO:0005654, Z disc, SCF ubiquitin ligase complex, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0071549, GO:0043687, GO:0016567, GO:0014894, GO:0000209, cellular response to dexamethasone stimulus, post-translational protein modification, protein ubiquitination, response to denervation involved in regulation of muscle adaptation, protein polyubiquitination, 10 16 29 53 17 86 22 12 55 ENSG00000156831 chr8 125091679 125367120 + NSMCE2 protein_coding This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]. 286053 GO:0030915, GO:0030915, GO:0016605, GO:0016604, GO:0005654, GO:0005654, GO:0005634, GO:0000781, Smc5-Smc6 complex, Smc5-Smc6 complex, PML body, nuclear body, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0061665, GO:0019789, GO:0019789, GO:0008270, GO:0005515, SUMO ligase activity, SUMO transferase activity, SUMO transferase activity, zinc ion binding, protein binding, GO:0090398, GO:0051301, GO:0045842, GO:0034184, GO:0016925, GO:0016925, GO:0007049, GO:0006303, GO:0000724, GO:0000724, GO:0000722, cellular senescence, cell division, positive regulation of mitotic metaphase/anaphase transition, positive regulation of maintenance of mitotic sister chromatid cohesion, protein sumoylation, protein sumoylation, cell cycle, double-strand break repair via nonhomologous end joining, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance via recombination, 52 83 80 59 83 102 64 68 79 ENSG00000156853 chr16 30602558 30624012 - ZNF689 protein_coding 115509 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0035914, GO:0006357, skeletal muscle cell differentiation, regulation of transcription by RNA polymerase II, 10 15 23 50 24 44 31 12 15 ENSG00000156858 chr16 30650717 30656440 + PRR14 protein_coding The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]. 78994 GO:0005694, GO:0005654, GO:0005652, chromosome, nucleoplasm, nuclear lamina, GO:0005515, protein binding, GO:0007517, muscle organ development, 833 911 998 1089 1223 1177 1060 871 965 ENSG00000156860 chr16 30658431 30670814 + FBRS protein_coding Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008]. 64319 7402 7702 10294 10237 11281 14356 9811 7114 10855 ENSG00000156869 chr1 99708632 99766631 - FRRS1 protein_coding Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]. 391059 GO:0016021, integral component of membrane, GO:0046872, GO:0000293, metal ion binding, ferric-chelate reductase activity, GO:0055114, oxidation-reduction process, 11 22 20 7 11 4 0 3 0 ENSG00000156873 chr16 30748270 30761176 + PHKG2 protein_coding Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]. 5261 GO:0005964, GO:0005829, GO:0005829, phosphorylase kinase complex, cytosol, cytosol, GO:0050321, GO:0019899, GO:0005524, GO:0005516, GO:0005515, GO:0004689, GO:0004674, tau-protein kinase activity, enzyme binding, ATP binding, calmodulin binding, protein binding, phosphorylase kinase activity, protein serine/threonine kinase activity, GO:0045819, GO:0006468, GO:0006091, GO:0005980, GO:0005978, GO:0005977, positive regulation of glycogen catabolic process, protein phosphorylation, generation of precursor metabolites and energy, glycogen catabolic process, glycogen biosynthetic process, glycogen metabolic process, 318 380 388 382 581 551 367 437 454 ENSG00000156875 chr1 100038097 100083377 + MFSD14A protein_coding 64645 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, GO:0030382, GO:0007289, GO:0001675, transmembrane transport, sperm mitochondrion organization, spermatid nucleus differentiation, acrosome assembly, 26 22 37 17 12 15 7 11 13 ENSG00000156876 chr1 100083563 100132955 - SASS6 protein_coding The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]. 163786 GO:0098536, GO:0034451, GO:0005829, GO:0005814, GO:0005813, GO:0005813, deuterosome, centriolar satellite, cytosol, centriole, centrosome, centrosome, GO:0005515, protein binding, GO:0051298, GO:0007099, centrosome duplication, centriole replication, 54 58 57 42 78 50 47 52 49 ENSG00000156885 chr16 31427731 31428428 - COX6A2 protein_coding Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]. 1339 GO:0016021, GO:0005751, integral component of membrane, mitochondrial respiratory chain complex IV, GO:0030234, GO:0004129, enzyme regulator activity, cytochrome-c oxidase activity, GO:1902600, GO:0050790, GO:0006123, GO:0006091, proton transmembrane transport, regulation of catalytic activity, mitochondrial electron transport, cytochrome c to oxygen, generation of precursor metabolites and energy, 0 0 0 1 0 4 5 2 0 ENSG00000156886 chr16 31393312 31426505 + ITGAD protein_coding This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 3681 GO:0009986, GO:0008305, GO:0005886, cell surface, integrin complex, plasma membrane, GO:0046872, metal ion binding, GO:0034113, GO:0030198, GO:0007229, GO:0006955, heterotypic cell-cell adhesion, extracellular matrix organization, integrin-mediated signaling pathway, immune response, 23 12 8 20 33 17 28 7 14 ENSG00000156920 chrX 136300963 136416888 + ADGRG4 protein_coding This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010]. 139378 GO:0016021, GO:0005887, integral component of membrane, integral component of plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007189, GO:0007186, GO:0007166, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000156925 chrX 137566142 137577691 + ZIC3 protein_coding This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]. 7547 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071910, GO:0071907, GO:0045944, GO:0045944, GO:0045893, GO:0035545, GO:0035469, GO:0035019, GO:0030324, GO:0030154, GO:0009952, GO:0007417, GO:0007368, GO:0006357, GO:0001947, determination of liver left/right asymmetry, determination of digestive tract left/right asymmetry, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, determination of left/right asymmetry in nervous system, determination of pancreatic left/right asymmetry, somatic stem cell population maintenance, lung development, cell differentiation, anterior/posterior pattern specification, central nervous system development, determination of left/right symmetry, regulation of transcription by RNA polymerase II, heart looping, 0 0 0 0 0 0 0 0 0 ENSG00000156928 chr7 23298739 23311729 + MALSU1 protein_coding 115416 GO:0005829, GO:0005762, GO:0005739, GO:0005739, cytosol, mitochondrial large ribosomal subunit, mitochondrion, mitochondrion, GO:0043023, GO:0005515, ribosomal large subunit binding, protein binding, GO:0090071, GO:0070130, GO:0042273, GO:0017148, negative regulation of ribosome biogenesis, negative regulation of mitochondrial translation, ribosomal large subunit biogenesis, negative regulation of translation, 70 34 54 47 52 71 43 48 38 ENSG00000156931 chr3 184812143 185052614 + VPS8 protein_coding 23355 GO:0033263, GO:0005769, GO:0005769, CORVET complex, early endosome, early endosome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0034058, GO:0034058, GO:0015031, endosomal vesicle fusion, endosomal vesicle fusion, protein transport, 1630 2187 2297 892 1778 1358 1092 1293 1291 ENSG00000156958 chr15 49155656 49367869 + GALK2 protein_coding This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]. 2585 GO:0005829, cytosol, GO:0033858, GO:0005524, GO:0004335, GO:0004335, N-acetylgalactosamine kinase activity, ATP binding, galactokinase activity, galactokinase activity, GO:0046835, GO:0006012, GO:0005975, carbohydrate phosphorylation, galactose metabolic process, carbohydrate metabolic process, 44 47 81 55 67 92 40 64 75 ENSG00000156959 chr3 9498361 9553802 - LHFPL4 protein_coding This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008]. 375323 GO:0060077, GO:0060077, GO:0045211, GO:0045211, GO:0030425, GO:0016021, GO:0016020, GO:0005886, inhibitory synapse, inhibitory synapse, postsynaptic membrane, postsynaptic membrane, dendrite, integral component of membrane, membrane, plasma membrane, GO:0050811, GO:0005515, GABA receptor binding, protein binding, GO:1905702, GO:0097112, GO:0097112, GO:0007605, regulation of inhibitory synapse assembly, gamma-aminobutyric acid receptor clustering, gamma-aminobutyric acid receptor clustering, sensory perception of sound, 0 4 2 0 3 0 6 4 3 ENSG00000156966 chr2 231395543 231401164 + B3GNT7 protein_coding 93010 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0008532, GO:0008376, GO:0008375, GO:0005515, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0030311, GO:0018146, GO:0016266, GO:0006486, poly-N-acetyllactosamine biosynthetic process, keratan sulfate biosynthetic process, O-glycan processing, protein glycosylation, 4 8 25 10 4 4 18 12 21 ENSG00000156968 chr16 15395754 15413268 + MPV17L protein_coding 255027 GO:0043231, GO:0016021, GO:0005778, GO:0005739, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, integral component of membrane, peroxisomal membrane, mitochondrion, mitochondrion, cytoplasm, GO:0003674, molecular_function, GO:1901029, GO:0010730, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, negative regulation of hydrogen peroxide biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000156970 chr15 40161023 40221136 + BUB1B protein_coding This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]. 701 GO:0048471, GO:0005829, GO:0005829, GO:0005819, GO:0005815, GO:0005737, GO:0005680, GO:0000940, GO:0000778, GO:0000777, GO:0000776, GO:0000776, perinuclear region of cytoplasm, cytosol, cytosol, spindle, microtubule organizing center, cytoplasm, anaphase-promoting complex, condensed chromosome outer kinetochore, condensed nuclear chromosome kinetochore, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004672, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein kinase activity, protein kinase activity, GO:1901990, GO:0051754, GO:0051301, GO:0031145, GO:0007094, GO:0007093, GO:0006915, GO:0006511, GO:0006468, GO:0000278, regulation of mitotic cell cycle phase transition, meiotic sister chromatid cohesion, centromeric, cell division, anaphase-promoting complex-dependent catabolic process, mitotic spindle assembly checkpoint, mitotic cell cycle checkpoint, apoptotic process, ubiquitin-dependent protein catabolic process, protein phosphorylation, mitotic cell cycle, 0 1 1 2 0 0 2 3 0 ENSG00000156973 chr2 231732425 231786272 - PDE6D protein_coding This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]. 5147 GO:0031410, GO:0030659, GO:0005929, GO:0005856, GO:0005829, GO:0005829, GO:0005737, cytoplasmic vesicle, cytoplasmic vesicle membrane, cilium, cytoskeleton, cytosol, cytosol, cytoplasm, GO:0031267, GO:0005515, GO:0005095, small GTPase binding, protein binding, GTPase inhibitor activity, GO:0050896, GO:0034260, GO:0007601, response to stimulus, negative regulation of GTPase activity, visual perception, 134 138 103 89 131 111 105 111 86 ENSG00000156976 chr3 186783205 186789900 + EIF4A2 protein_coding 1974 GO:0048471, GO:0016281, GO:0005829, perinuclear region of cytoplasm, eukaryotic translation initiation factor 4F complex, cytosol, GO:0016887, GO:0005524, GO:0005515, GO:0004386, GO:0003743, GO:0003724, GO:0003723, ATPase activity, ATP binding, protein binding, helicase activity, translation initiation factor activity, RNA helicase activity, RNA binding, GO:1990830, GO:1900260, GO:0016032, GO:0006446, GO:0006413, GO:0002183, cellular response to leukemia inhibitory factor, negative regulation of RNA-directed 5'-3' RNA polymerase activity, viral process, regulation of translational initiation, translational initiation, cytoplasmic translational initiation, 2316 2279 3471 7825 11152 8794 5957 4850 5749 ENSG00000156983 chr3 9731729 9748018 + BRPF1 protein_coding This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 7862 GO:0070776, GO:0070776, GO:0005886, GO:0005829, GO:0005737, GO:0005694, GO:0005654, GO:0005634, GO:0000123, MOZ/MORF histone acetyltransferase complex, MOZ/MORF histone acetyltransferase complex, plasma membrane, cytosol, cytoplasm, chromosome, nucleoplasm, nucleus, histone acetyltransferase complex, GO:0046872, GO:0043994, GO:0043994, GO:0042393, GO:0005515, GO:0003677, metal ion binding, histone acetyltransferase activity (H3-K23 specific), histone acetyltransferase activity (H3-K23 specific), histone binding, protein binding, DNA binding, GO:1901796, GO:0045893, GO:0044154, GO:0044154, GO:0043972, GO:0043966, regulation of signal transduction by p53 class mediator, positive regulation of transcription, DNA-templated, histone H3-K14 acetylation, histone H3-K14 acetylation, histone H3-K23 acetylation, histone H3 acetylation, 290 313 325 176 279 207 255 210 222 ENSG00000156990 chr3 9837849 9844602 - RPUSD3 protein_coding This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]. 285367 GO:0005759, mitochondrial matrix, GO:0009982, GO:0005515, GO:0003723, pseudouridine synthase activity, protein binding, RNA binding, GO:0070131, GO:0006397, GO:0000455, positive regulation of mitochondrial translation, mRNA processing, enzyme-directed rRNA pseudouridine synthesis, 31 47 38 61 53 65 73 47 48 ENSG00000157005 chr3 187668906 187670399 - SST protein_coding The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008]. 6750 GO:0045202, GO:0043025, GO:0005615, GO:0005615, GO:0005576, synapse, neuronal cell body, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0005179, protein binding, hormone activity, GO:0048545, GO:0043200, GO:0042493, GO:0030334, GO:0010447, GO:0009408, GO:0008628, GO:0008285, GO:0007586, GO:0007584, GO:0007268, GO:0007267, GO:0007186, GO:0007166, GO:0006972, response to steroid hormone, response to amino acid, response to drug, regulation of cell migration, response to acidic pH, response to heat, hormone-mediated apoptotic signaling pathway, negative regulation of cell population proliferation, digestion, response to nutrient, chemical synaptic transmission, cell-cell signaling, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, hyperosmotic response, 0 0 0 0 0 0 0 0 0 ENSG00000157014 chr3 10248023 10281218 + TATDN2 protein_coding 9797 GO:0005654, nucleoplasm, GO:0046872, GO:0016888, metal ion binding, endodeoxyribonuclease activity, producing 5'-phosphomonoesters, GO:0090305, GO:0036498, GO:0006259, nucleic acid phosphodiester bond hydrolysis, IRE1-mediated unfolded protein response, DNA metabolic process, 164 155 203 113 104 157 126 125 131 ENSG00000157017 chr3 10285675 10292947 - GHRL protein_coding This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014]. 51738 GO:0098978, GO:0098794, GO:0034774, GO:0030424, GO:0005788, GO:0005615, GO:0005615, GO:0005576, GO:0005576, glutamatergic synapse, postsynapse, secretory granule lumen, axon, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, extracellular region, GO:0031768, GO:0031768, GO:0031768, GO:0030296, GO:0016608, GO:0016608, GO:0016608, GO:0005515, GO:0001664, ghrelin receptor binding, ghrelin receptor binding, ghrelin receptor binding, protein tyrosine kinase activator activity, growth hormone-releasing hormone activity, growth hormone-releasing hormone activity, growth hormone-releasing hormone activity, protein binding, G protein-coupled receptor binding, GO:1905564, GO:1905333, GO:1904349, GO:1904346, GO:1904179, GO:1904000, GO:1903672, GO:1903012, GO:0120162, GO:0120058, GO:0099175, GO:0061098, GO:0060399, GO:0060124, GO:0060124, GO:0060079, GO:0051969, GO:0051965, GO:0051602, GO:0051464, GO:0051461, GO:0051216, GO:0050728, GO:0050728, GO:0046697, GO:0046676, GO:0046010, GO:0043627, GO:0043400, GO:0043066, GO:0042322, GO:0042127, GO:0040018, GO:0040013, GO:0040010, GO:0035774, GO:0035483, GO:0032720, GO:0032715, GO:0032691, GO:0032100, GO:0032095, GO:0032024, GO:0030252, GO:0016525, GO:0016358, GO:0009755, GO:0009725, GO:0008343, GO:0008154, GO:0007204, GO:0007186, GO:0007186, GO:0006006, GO:0001937, GO:0001696, GO:0000187, positive regulation of vascular endothelial cell proliferation, regulation of gastric motility, positive regulation of small intestine smooth muscle contraction, positive regulation of gastric mucosal blood circulation, positive regulation of adipose tissue development, positive regulation of eating behavior, positive regulation of sprouting angiogenesis, positive regulation of bone development, positive regulation of cold-induced thermogenesis, positive regulation of small intestinal transit, regulation of postsynapse organization, positive regulation of protein tyrosine kinase activity, positive regulation of growth hormone receptor signaling pathway, positive regulation of growth hormone secretion, positive regulation of growth hormone secretion, excitatory postsynaptic potential, regulation of transmission of nerve impulse, positive regulation of synapse assembly, response to electrical stimulus, positive regulation of cortisol secretion, positive regulation of corticotropin secretion, cartilage development, negative regulation of inflammatory response, negative regulation of inflammatory response, decidualization, negative regulation of insulin secretion, positive regulation of circadian sleep/wake cycle, non-REM sleep, response to estrogen, cortisol secretion, negative regulation of apoptotic process, negative regulation of circadian sleep/wake cycle, REM sleep, regulation of cell population proliferation, positive regulation of multicellular organism growth, negative regulation of locomotion, positive regulation of growth rate, positive regulation of insulin secretion involved in cellular response to glucose stimulus, gastric emptying, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, positive regulation of appetite, regulation of response to food, positive regulation of insulin secretion, growth hormone secretion, negative regulation of angiogenesis, dendrite development, hormone-mediated signaling pathway, response to hormone, adult feeding behavior, actin polymerization or depolymerization, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, glucose metabolic process, negative regulation of endothelial cell proliferation, gastric acid secretion, activation of MAPK activity, 190 151 326 68 117 113 69 114 97 ENSG00000157020 chr3 10293131 10321178 - SEC13 protein_coding The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]. 6396 GO:0070062, GO:0061700, GO:0043657, GO:0043231, GO:0031080, GO:0031080, GO:0031080, GO:0030127, GO:0030127, GO:0012507, GO:0005829, GO:0005829, GO:0005789, GO:0005765, GO:0005654, GO:0005635, GO:0000776, GO:0000139, extracellular exosome, GATOR2 complex, host cell, intracellular membrane-bounded organelle, nuclear pore outer ring, nuclear pore outer ring, nuclear pore outer ring, COPII vesicle coat, COPII vesicle coat, ER to Golgi transport vesicle membrane, cytosol, cytosol, endoplasmic reticulum membrane, lysosomal membrane, nucleoplasm, nuclear envelope, kinetochore, Golgi membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:1904263, GO:1900034, GO:0090114, GO:0090110, GO:0075733, GO:0060964, GO:0048208, GO:0032527, GO:0032008, GO:0019886, GO:0019083, GO:0016032, GO:0006886, GO:0006409, GO:0006406, GO:0006110, GO:0002474, positive regulation of TORC1 signaling, regulation of cellular response to heat, COPII-coated vesicle budding, COPII-coated vesicle cargo loading, intracellular transport of virus, regulation of gene silencing by miRNA, COPII vesicle coating, protein exit from endoplasmic reticulum, positive regulation of TOR signaling, antigen processing and presentation of exogenous peptide antigen via MHC class II, viral transcription, viral process, intracellular protein transport, tRNA export from nucleus, mRNA export from nucleus, regulation of glycolytic process, antigen processing and presentation of peptide antigen via MHC class I, 451 357 612 288 272 372 304 250 389 ENSG00000157021 chr15 41163162 41164374 + FAM92A1P1 unprocessed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000157036 chr3 38496127 38542161 + EXOG protein_coding This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009]. 9941 GO:0032991, GO:0005743, GO:0005743, GO:0005739, GO:0005634, protein-containing complex, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleus, GO:0046872, GO:0008409, GO:0008409, GO:0004521, GO:0004519, GO:0004519, GO:0004519, GO:0003676, GO:0000014, metal ion binding, 5'-3' exonuclease activity, 5'-3' exonuclease activity, endoribonuclease activity, endonuclease activity, endonuclease activity, endonuclease activity, nucleic acid binding, single-stranded DNA endodeoxyribonuclease activity, GO:0090502, GO:0008150, GO:0006309, RNA phosphodiester bond hydrolysis, endonucleolytic, biological_process, apoptotic DNA fragmentation, 7 16 45 43 9 58 38 4 28 ENSG00000157045 chr16 15037853 15056079 - NTAN1 protein_coding The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 123803 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0008418, GO:0008418, GO:0005515, protein-N-terminal asparagine amidohydrolase activity, protein-N-terminal asparagine amidohydrolase activity, protein binding, GO:0008344, GO:0007613, GO:0006511, GO:0006511, adult locomotory behavior, memory, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 6 63 2 4 26 1 2 9 0 ENSG00000157060 chr1 182899865 182953525 - SHCBP1L protein_coding This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]. 81626 GO:0072687, GO:0072687, GO:0005737, meiotic spindle, meiotic spindle, cytoplasm, GO:0005515, protein binding, GO:2001252, GO:0030154, GO:0007283, GO:0007283, GO:0007112, positive regulation of chromosome organization, cell differentiation, spermatogenesis, spermatogenesis, male meiosis cytokinesis, 0 0 0 0 0 0 0 0 0 ENSG00000157064 chr1 183248237 183418602 - NMNAT2 protein_coding This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 23057 GO:0045202, GO:0030659, GO:0030424, GO:0005802, GO:0005794, GO:0005794, GO:0005770, GO:0000139, synapse, cytoplasmic vesicle membrane, axon, trans-Golgi network, Golgi apparatus, Golgi apparatus, late endosome, Golgi membrane, GO:0005524, GO:0004515, GO:0004515, GO:0000309, ATP binding, nicotinate-nucleotide adenylyltransferase activity, nicotinate-nucleotide adenylyltransferase activity, nicotinamide-nucleotide adenylyltransferase activity, GO:0019674, GO:0009435, GO:0009435, GO:0009165, NAD metabolic process, NAD biosynthetic process, NAD biosynthetic process, nucleotide biosynthetic process, 1 0 0 0 5 4 1 0 0 ENSG00000157077 chr1 52142094 52346686 + ZFYVE9 protein_coding This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. 9372 GO:0043231, GO:0032991, GO:0031901, GO:0031901, GO:0031901, GO:0005829, GO:0005769, intracellular membrane-bounded organelle, protein-containing complex, early endosome membrane, early endosome membrane, early endosome membrane, cytosol, early endosome, GO:0046872, GO:0019904, GO:0005545, GO:0005515, metal ion binding, protein domain specific binding, 1-phosphatidylinositol binding, protein binding, GO:0016197, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0006897, endosomal transport, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, endocytosis, 5 1 11 15 7 25 12 3 11 ENSG00000157087 chr3 10324023 10708007 - ATP2B2 protein_coding The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 491 GO:0098982, GO:0098982, GO:0098978, GO:0098978, GO:0098839, GO:0098793, GO:0070062, GO:0043231, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GABA-ergic synapse, GABA-ergic synapse, glutamatergic synapse, glutamatergic synapse, postsynaptic density membrane, presynapse, extracellular exosome, intracellular membrane-bounded organelle, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:1905059, GO:1905059, GO:1905056, GO:0046872, GO:0030165, GO:0019829, GO:0005524, GO:0005516, GO:0005515, GO:0005388, GO:0005388, calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration, calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration, calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration, metal ion binding, PDZ domain binding, ATPase-coupled cation transmembrane transporter activity, ATP binding, calmodulin binding, protein binding, calcium transmembrane transporter activity, phosphorylative mechanism, calcium transmembrane transporter activity, phosphorylative mechanism, GO:1903779, GO:0099566, GO:0099509, GO:0070588, GO:0051480, GO:0051480, GO:0034220, GO:0030182, GO:0007605, GO:0006874, GO:0006816, GO:0006816, regulation of cardiac conduction, regulation of postsynaptic cytosolic calcium ion concentration, regulation of presynaptic cytosolic calcium ion concentration, calcium ion transmembrane transport, regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, ion transmembrane transport, neuron differentiation, sensory perception of sound, cellular calcium ion homeostasis, calcium ion transport, calcium ion transport, 0 1 2 1 0 3 0 0 3 ENSG00000157093 chr3 42397078 42410600 - LYZL4 protein_coding Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009]. 131375 GO:0036126, GO:0036126, GO:0005634, GO:0005615, GO:0001669, GO:0001669, sperm flagellum, sperm flagellum, nucleus, extracellular space, acrosomal vesicle, acrosomal vesicle, GO:0003796, lysozyme activity, GO:0042742, GO:0009566, GO:0007342, defense response to bacterium, fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000157103 chr3 10992186 11039249 + SLC6A1 protein_coding The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]. 6529 GO:0099056, GO:0099055, GO:0098982, GO:0043025, GO:0043005, GO:0030424, GO:0030424, GO:0016021, GO:0016020, GO:0009986, GO:0005886, GO:0005886, GO:0005886, integral component of presynaptic membrane, integral component of postsynaptic membrane, GABA-ergic synapse, neuronal cell body, neuron projection, axon, axon, integral component of membrane, membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, GO:0046872, GO:0042802, GO:0042165, GO:0015378, GO:0015185, GO:0005515, GO:0005332, GO:0005332, metal ion binding, identical protein binding, neurotransmitter binding, sodium:chloride symporter activity, gamma-aminobutyric acid transmembrane transporter activity, protein binding, gamma-aminobutyric acid:sodium symporter activity, gamma-aminobutyric acid:sodium symporter activity, GO:1902476, GO:0150104, GO:0098810, GO:0098719, GO:0098658, GO:0051939, GO:0051939, GO:0051592, GO:0050808, GO:0042220, GO:0035725, GO:0032355, GO:0032229, GO:0014074, GO:0014054, GO:0010288, GO:0010035, GO:0009744, GO:0009636, GO:0008306, GO:0007613, GO:0007268, chloride transmembrane transport, transport across blood-brain barrier, neurotransmitter reuptake, sodium ion import across plasma membrane, inorganic anion import across plasma membrane, gamma-aminobutyric acid import, gamma-aminobutyric acid import, response to calcium ion, synapse organization, response to cocaine, sodium ion transmembrane transport, response to estradiol, negative regulation of synaptic transmission, GABAergic, response to purine-containing compound, positive regulation of gamma-aminobutyric acid secretion, response to lead ion, response to inorganic substance, response to sucrose, response to toxic substance, associative learning, memory, chemical synaptic transmission, 0 0 0 3 0 0 0 0 0 ENSG00000157106 chr16 18804853 18926454 - SMG1 protein_coding This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]. 23049 GO:0031932, GO:0031931, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, TORC2 complex, TORC1 complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0042162, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0003723, protein threonine kinase activity, protein serine kinase activity, metal ion binding, telomeric DNA binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, RNA binding, GO:2001020, GO:0046854, GO:0046777, GO:0038202, GO:0032204, GO:0018105, GO:0018105, GO:0016242, GO:0006406, GO:0006281, GO:0000184, GO:0000184, GO:0000184, regulation of response to DNA damage stimulus, phosphatidylinositol phosphorylation, protein autophosphorylation, TORC1 signaling, regulation of telomere maintenance, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, negative regulation of macroautophagy, mRNA export from nucleus, DNA repair, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 3978 4018 5724 2349 3246 3316 2845 2245 2817 ENSG00000157107 chr5 72955981 73090522 + FCHO2 protein_coding 115548 GO:0098835, GO:0030136, GO:0030136, GO:0005905, GO:0005905, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005737, presynaptic endocytic zone membrane, clathrin-coated vesicle, clathrin-coated vesicle, clathrin-coated pit, clathrin-coated pit, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytoplasm, GO:0042802, GO:0035091, GO:0008092, GO:0005546, GO:0005515, GO:0001786, identical protein binding, phosphatidylinositol binding, cytoskeletal protein binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, phosphatidylserine binding, GO:0072659, GO:0072583, GO:0072583, GO:0061024, GO:0048488, GO:0048268, GO:0048268, GO:0010324, protein localization to plasma membrane, clathrin-dependent endocytosis, clathrin-dependent endocytosis, membrane organization, synaptic vesicle endocytosis, clathrin coat assembly, clathrin coat assembly, membrane invagination, 1324 1342 1289 882 1452 1188 1068 1080 1012 ENSG00000157110 chr8 30384479 30572261 + RBPMS protein_coding This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]. 11030 GO:0010494, GO:0005829, GO:0005654, GO:0000932, cytoplasmic stress granule, cytosol, nucleoplasm, P-body, GO:0042803, GO:0008143, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003713, protein homodimerization activity, poly(A) binding, protein binding, mRNA binding, RNA binding, RNA binding, transcription coactivator activity, GO:1903508, GO:0060391, GO:0010862, GO:0006979, GO:0006396, positive regulation of nucleic acid-templated transcription, positive regulation of SMAD protein signal transduction, positive regulation of pathway-restricted SMAD protein phosphorylation, response to oxidative stress, RNA processing, 17 25 22 25 26 44 38 20 42 ENSG00000157111 chr5 73120292 73131817 + TMEM171 protein_coding 134285 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 4 2 1 1 3 2 0 ENSG00000157119 chr3 42685519 42692544 + KLHL40 protein_coding This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]. 131377 GO:0031674, GO:0031672, GO:0031463, GO:0005737, I band, A band, Cul3-RING ubiquitin ligase complex, cytoplasm, GO:0005515, protein binding, GO:0098528, GO:0048741, GO:0048741, GO:0032436, GO:0032435, GO:0031398, GO:0031397, skeletal muscle fiber differentiation, skeletal muscle fiber development, skeletal muscle fiber development, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein ubiquitination, negative regulation of protein ubiquitination, 0 0 0 0 0 0 1 0 0 ENSG00000157131 chr1 56854806 56918221 + C8A protein_coding C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]. 731 GO:0072562, GO:0070062, GO:0016020, GO:0005615, GO:0005579, GO:0005576, blood microparticle, extracellular exosome, membrane, extracellular space, membrane attack complex, extracellular region, GO:0044877, GO:0005515, GO:0001848, protein-containing complex binding, protein binding, complement binding, GO:0030449, GO:0019835, GO:0006958, GO:0006957, GO:0006956, GO:0006955, regulation of complement activation, cytolysis, complement activation, classical pathway, complement activation, alternative pathway, complement activation, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000157150 chr3 12153051 12159351 - TIMP4 protein_coding This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008]. 7079 GO:0031012, GO:0030017, GO:0005615, extracellular matrix, sarcomere, extracellular space, GO:0046872, GO:0008191, GO:0008191, GO:0002020, metal ion binding, metalloendopeptidase inhibitor activity, metalloendopeptidase inhibitor activity, protease binding, GO:0051045, GO:0043434, GO:0042698, GO:0042493, GO:0034097, GO:0032496, GO:0010951, GO:0010033, GO:0009725, GO:0008150, GO:0007417, GO:0007219, negative regulation of membrane protein ectodomain proteolysis, response to peptide hormone, ovulation cycle, response to drug, response to cytokine, response to lipopolysaccharide, negative regulation of endopeptidase activity, response to organic substance, response to hormone, biological_process, central nervous system development, Notch signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000157152 chr3 12004402 12191400 + SYN2 protein_coding This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]. 6854 GO:0098978, GO:0045202, GO:0031201, GO:0030672, GO:0030672, GO:0014069, GO:0005886, glutamatergic synapse, synapse, SNARE complex, synaptic vesicle membrane, synaptic vesicle membrane, postsynaptic density, plasma membrane, GO:0042802, GO:0005524, identical protein binding, ATP binding, GO:0097091, GO:0017156, GO:0007269, GO:0007269, GO:0007268, synaptic vesicle clustering, calcium-ion regulated exocytosis, neurotransmitter secretion, neurotransmitter secretion, chemical synaptic transmission, 8 2 16 1 3 6 0 0 0 ENSG00000157168 chr8 31639386 32767959 + NRG1 protein_coding The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]. 3084 GO:0031594, GO:0030424, GO:0016020, GO:0005887, GO:0005737, GO:0005654, GO:0005615, GO:0005576, GO:0005576, neuromuscular junction, axon, membrane, integral component of plasma membrane, cytoplasm, nucleoplasm, extracellular space, extracellular region, extracellular region, GO:0045499, GO:0043125, GO:0030971, GO:0030297, GO:0030296, GO:0008083, GO:0005178, GO:0005176, GO:0005125, GO:0005102, GO:0003712, chemorepellent activity, ErbB-3 class receptor binding, receptor tyrosine kinase binding, transmembrane receptor protein tyrosine kinase activator activity, protein tyrosine kinase activator activity, growth factor activity, integrin binding, ErbB-2 class receptor binding, cytokine activity, signaling receptor binding, transcription coregulator activity, GO:2001223, GO:2000727, GO:2000145, GO:0070886, GO:0061098, GO:0060956, GO:0060379, GO:0055007, GO:0051897, GO:0051155, GO:0051048, GO:0048709, GO:0048663, GO:0048513, GO:0046579, GO:0045892, GO:0045213, GO:0042177, GO:0042060, GO:0038129, GO:0038128, GO:0038127, GO:0038127, GO:0035556, GO:0032148, GO:0031334, GO:0031334, GO:0030879, GO:0030154, GO:0022011, GO:0021842, GO:0021781, GO:0014032, GO:0010628, GO:0008284, GO:0007626, GO:0007416, GO:0007399, GO:0007399, GO:0007171, GO:0007154, GO:0003222, GO:0003161, GO:0000902, GO:0000187, GO:0000165, negative regulation of neuron migration, positive regulation of cardiac muscle cell differentiation, regulation of cell motility, positive regulation of calcineurin-NFAT signaling cascade, positive regulation of protein tyrosine kinase activity, endocardial cell differentiation, cardiac muscle cell myoblast differentiation, cardiac muscle cell differentiation, positive regulation of protein kinase B signaling, positive regulation of striated muscle cell differentiation, negative regulation of secretion, oligodendrocyte differentiation, neuron fate commitment, animal organ development, positive regulation of Ras protein signal transduction, negative regulation of transcription, DNA-templated, neurotransmitter receptor metabolic process, negative regulation of protein catabolic process, wound healing, ERBB3 signaling pathway, ERBB2 signaling pathway, ERBB signaling pathway, ERBB signaling pathway, intracellular signal transduction, activation of protein kinase B activity, positive regulation of protein-containing complex assembly, positive regulation of protein-containing complex assembly, mammary gland development, cell differentiation, myelination in peripheral nervous system, chemorepulsion involved in interneuron migration from the subpallium to the cortex, glial cell fate commitment, neural crest cell development, positive regulation of gene expression, positive regulation of cell population proliferation, locomotory behavior, synapse assembly, nervous system development, nervous system development, activation of transmembrane receptor protein tyrosine kinase activity, cell communication, ventricular trabecula myocardium morphogenesis, cardiac conduction system development, cell morphogenesis, activation of MAPK activity, MAPK cascade, 4 2 0 1 3 0 0 1 0 ENSG00000157181 chr1 186375838 186421378 + ODR4 protein_coding 54953 GO:0016021, integral component of membrane, GO:0008104, protein localization, 448 425 491 333 433 469 317 261 320 ENSG00000157184 chr1 53196429 53214197 + CPT2 protein_coding The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]. 1376 GO:0005743, GO:0005743, GO:0005739, GO:0005739, GO:0005730, GO:0005654, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleolus, nucleoplasm, GO:0016746, GO:0005515, GO:0004095, GO:0004095, GO:0004095, GO:0004095, transferase activity, transferring acyl groups, protein binding, carnitine O-palmitoyltransferase activity, carnitine O-palmitoyltransferase activity, carnitine O-palmitoyltransferase activity, carnitine O-palmitoyltransferase activity, GO:0120162, GO:0019216, GO:0009437, GO:0006853, GO:0006635, GO:0006635, GO:0006635, GO:0001676, positive regulation of cold-induced thermogenesis, regulation of lipid metabolic process, carnitine metabolic process, carnitine shuttle, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, long-chain fatty acid metabolic process, 118 144 139 41 70 61 51 70 70 ENSG00000157191 chr1 16440672 16460078 + NECAP2 protein_coding This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. 55707 GO:0030125, GO:0030125, GO:0005905, clathrin vesicle coat, clathrin vesicle coat, clathrin-coated pit, GO:0016192, GO:0015031, GO:0006897, vesicle-mediated transport, protein transport, endocytosis, 324 338 541 236 284 319 282 294 271 ENSG00000157193 chr1 53242364 53328070 - LRP8 protein_coding This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]. 7804 GO:0043235, GO:0043025, GO:0030425, GO:0030424, GO:0016021, GO:0016020, GO:0014069, GO:0005901, GO:0005886, GO:0005875, GO:0005576, receptor complex, neuronal cell body, dendrite, axon, integral component of membrane, membrane, postsynaptic density, caveola, plasma membrane, microtubule associated complex, extracellular region, GO:0038025, GO:0038024, GO:0034185, GO:0030229, GO:0019894, GO:0008035, GO:0005515, GO:0005509, GO:0005041, GO:0004888, reelin receptor activity, cargo receptor activity, apolipoprotein binding, very-low-density lipoprotein particle receptor activity, kinesin binding, high-density lipoprotein particle binding, protein binding, calcium ion binding, low-density lipoprotein particle receptor activity, transmembrane signaling receptor activity, GO:1900006, GO:0071397, GO:0071363, GO:0061098, GO:0061003, GO:0050804, GO:0050731, GO:0045088, GO:0042981, GO:0042493, GO:0038026, GO:0032793, GO:0021987, GO:0021541, GO:0019221, GO:0007165, GO:0006897, GO:0006629, GO:0006508, GO:0001523, positive regulation of dendrite development, cellular response to cholesterol, cellular response to growth factor stimulus, positive regulation of protein tyrosine kinase activity, positive regulation of dendritic spine morphogenesis, modulation of chemical synaptic transmission, positive regulation of peptidyl-tyrosine phosphorylation, regulation of innate immune response, regulation of apoptotic process, response to drug, reelin-mediated signaling pathway, positive regulation of CREB transcription factor activity, cerebral cortex development, ammon gyrus development, cytokine-mediated signaling pathway, signal transduction, endocytosis, lipid metabolic process, proteolysis, retinoid metabolic process, 12 7 21 24 9 42 20 11 21 ENSG00000157211 chr1 54132968 54153770 - CDCP2 protein_coding 200008 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000157212 chr7 154943687 155003084 - PAXIP1 protein_coding This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]. 22976 GO:0044666, GO:0035097, GO:0016363, GO:0005694, GO:0005654, GO:0005634, MLL3/4 complex, histone methyltransferase complex, nuclear matrix, chromosome, nucleoplasm, nucleus, GO:0005515, protein binding, GO:2001022, GO:1902749, GO:0060717, GO:0060612, GO:0060261, GO:0060261, GO:0051571, GO:0051568, GO:0048304, GO:0045830, GO:0043542, GO:0043433, GO:0035066, GO:0031398, GO:0030330, GO:0010212, GO:0006310, GO:0006303, GO:0001570, GO:0000416, positive regulation of response to DNA damage stimulus, regulation of cell cycle G2/M phase transition, chorion development, adipose tissue development, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of histone H3-K4 methylation, histone H3-K4 methylation, positive regulation of isotype switching to IgG isotypes, positive regulation of isotype switching, endothelial cell migration, negative regulation of DNA-binding transcription factor activity, positive regulation of histone acetylation, positive regulation of protein ubiquitination, DNA damage response, signal transduction by p53 class mediator, response to ionizing radiation, DNA recombination, double-strand break repair via nonhomologous end joining, vasculogenesis, positive regulation of histone H3-K36 methylation, 88 81 94 76 102 103 74 79 85 ENSG00000157214 chr7 90167590 90238137 + STEAP2 protein_coding This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 261729 GO:0030173, GO:0030140, GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005769, GO:0005768, integral component of Golgi membrane, trans-Golgi network transport vesicle, endosome membrane, plasma membrane, plasma membrane, cytosol, early endosome, endosome, GO:0052851, GO:0046872, GO:0008823, ferric-chelate reductase (NADPH) activity, metal ion binding, cupric reductase activity, GO:0055114, GO:0055072, GO:0045055, GO:0015677, GO:0009725, GO:0006897, GO:0006893, oxidation-reduction process, iron ion homeostasis, regulated exocytosis, copper ion import, response to hormone, endocytosis, Golgi to plasma membrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000157216 chr1 54225432 54413479 - SSBP3 protein_coding 23648 GO:0032991, GO:0005634, protein-containing complex, nucleus, GO:0005515, GO:0003697, protein binding, single-stranded DNA binding, GO:2000744, GO:0065003, GO:0060323, GO:0045944, GO:0021547, GO:0021501, GO:0008284, GO:0002244, positive regulation of anterior head development, protein-containing complex assembly, head morphogenesis, positive regulation of transcription by RNA polymerase II, midbrain-hindbrain boundary initiation, prechordal plate formation, positive regulation of cell population proliferation, hematopoietic progenitor cell differentiation, 122 138 281 163 125 310 159 152 267 ENSG00000157219 chr7 155070324 155087392 + HTR5A protein_coding The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]. 3361 GO:0099060, GO:0043204, GO:0030425, GO:0005887, GO:0005886, GO:0005794, GO:0005791, integral component of postsynaptic specialization membrane, perikaryon, dendrite, integral component of plasma membrane, plasma membrane, Golgi apparatus, rough endoplasmic reticulum, GO:0051378, GO:0030594, GO:0004993, GO:0004993, serotonin binding, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, GO:0032355, GO:0021766, GO:0019933, GO:0007268, GO:0007198, GO:0007187, GO:0007186, response to estradiol, hippocampus development, cAMP-mediated signaling, chemical synaptic transmission, adenylate cyclase-inhibiting serotonin receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000157224 chr7 90383721 90513402 + CLDN12 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and claudin 2 are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, Sep 2011]. 9069 GO:0016328, GO:0016021, GO:0005923, GO:0005886, GO:0005886, lateral plasma membrane, integral component of membrane, bicellular tight junction, plasma membrane, plasma membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0120192, GO:0035633, GO:0016338, tight junction assembly, maintenance of blood-brain barrier, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, 3 7 11 3 6 10 0 5 4 ENSG00000157227 chr14 22836557 22849027 + MMP14 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]. 4323 GO:0045111, GO:0044354, GO:0042470, GO:0031410, GO:0031012, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005796, GO:0005737, GO:0005634, GO:0005615, intermediate filament cytoskeleton, macropinosome, melanosome, cytoplasmic vesicle, extracellular matrix, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi lumen, cytoplasm, nucleus, extracellular space, GO:0070006, GO:0070006, GO:0008270, GO:0005515, GO:0005178, GO:0004222, GO:0004222, GO:0004175, metalloaminopeptidase activity, metalloaminopeptidase activity, zinc ion binding, protein binding, integrin binding, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:1990834, GO:1905523, GO:1903076, GO:0097094, GO:0060322, GO:0051895, GO:0048870, GO:0048771, GO:0048754, GO:0048701, GO:0045746, GO:0045579, GO:0043627, GO:0043615, GO:0035988, GO:0035987, GO:0031638, GO:0031638, GO:0030574, GO:0030574, GO:0030335, GO:0030324, GO:0030307, GO:0030198, GO:0022617, GO:0016485, GO:0014070, GO:0010954, GO:0010831, GO:0009612, GO:0008584, GO:0006979, GO:0006508, GO:0006508, GO:0001958, GO:0001935, GO:0001666, GO:0001541, GO:0001525, GO:0001501, response to odorant, positive regulation of macrophage migration, regulation of protein localization to plasma membrane, craniofacial suture morphogenesis, head development, negative regulation of focal adhesion assembly, cell motility, tissue remodeling, branching morphogenesis of an epithelial tube, embryonic cranial skeleton morphogenesis, negative regulation of Notch signaling pathway, positive regulation of B cell differentiation, response to estrogen, astrocyte cell migration, chondrocyte proliferation, endodermal cell differentiation, zymogen activation, zymogen activation, collagen catabolic process, collagen catabolic process, positive regulation of cell migration, lung development, positive regulation of cell growth, extracellular matrix organization, extracellular matrix disassembly, protein processing, response to organic cyclic compound, positive regulation of protein processing, positive regulation of myotube differentiation, response to mechanical stimulus, male gonad development, response to oxidative stress, proteolysis, proteolysis, endochondral ossification, endothelial cell proliferation, response to hypoxia, ovarian follicle development, angiogenesis, skeletal system development, 61 10 5 174 9 13 102 13 6 ENSG00000157240 chr7 91264364 91271326 + FZD1 protein_coding Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008]. 8321 GO:1990909, GO:0016021, GO:0009986, GO:0005925, GO:0005886, GO:0005886, Wnt signalosome, integral component of membrane, cell surface, focal adhesion, plasma membrane, plasma membrane, GO:0042813, GO:0042813, GO:0042813, GO:0042813, GO:0030165, GO:0017147, GO:0017147, GO:0017147, GO:0005515, GO:0005109, GO:0005102, GO:0004930, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, PDZ domain binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, protein binding, frizzled binding, signaling receptor binding, G protein-coupled receptor activity, GO:1905606, GO:1904953, GO:1904886, GO:1903204, GO:0099054, GO:0090179, GO:0090090, GO:0060071, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0060022, GO:0051091, GO:0045893, GO:0045892, GO:0044339, GO:0044338, GO:0042493, GO:0036520, GO:0035567, GO:0035425, GO:0030855, GO:0030514, GO:0030182, GO:0010976, GO:0007267, GO:0007186, GO:0003151, GO:0003150, GO:0003149, GO:0001934, regulation of presynapse assembly, Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, beta-catenin destruction complex disassembly, negative regulation of oxidative stress-induced neuron death, presynapse assembly, planar cell polarity pathway involved in neural tube closure, negative regulation of canonical Wnt signaling pathway, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, hard palate development, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, canonical Wnt signaling pathway involved in osteoblast differentiation, canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation, response to drug, astrocyte-dopaminergic neuron signaling, non-canonical Wnt signaling pathway, autocrine signaling, epithelial cell differentiation, negative regulation of BMP signaling pathway, neuron differentiation, positive regulation of neuron projection development, cell-cell signaling, G protein-coupled receptor signaling pathway, outflow tract morphogenesis, muscular septum morphogenesis, membranous septum morphogenesis, positive regulation of protein phosphorylation, 4 1 4 0 0 0 1 0 0 ENSG00000157259 chr7 92447448 92459432 + GATAD1 protein_coding The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]. 57798 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0043565, GO:0008270, sequence-specific DNA binding, zinc ion binding, GO:0006355, GO:0006338, GO:0006325, regulation of transcription, DNA-templated, chromatin remodeling, chromatin organization, 66 100 113 84 107 149 82 82 106 ENSG00000157303 chr9 93058688 93085138 + SUSD3 protein_coding 203328 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, 25 20 57 56 29 48 45 30 33 ENSG00000157306 chr14 23511760 23560778 + ZFHX2-AS1 processed_transcript 4 0 6 7 1 1 1 1 2 ENSG00000157315 chr16 69343248 69351809 - TMED6 protein_coding 146456 GO:0030134, GO:0016021, GO:0005794, GO:0005793, GO:0005789, GO:0005783, COPII-coated ER to Golgi transport vesicle, integral component of membrane, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0007030, GO:0006888, GO:0006886, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 2 2 4 1 8 2 0 2 7 ENSG00000157322 chr16 69950705 69964452 + CLEC18A protein_coding This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]. 348174 GO:0005794, GO:0005783, GO:0005768, GO:0005615, GO:0005615, Golgi apparatus, endoplasmic reticulum, endosome, extracellular space, extracellular space, GO:0030247, GO:0030247, GO:0005515, polysaccharide binding, polysaccharide binding, protein binding, 13 56 28 43 111 99 46 84 54 ENSG00000157326 chr14 23953586 23969279 + DHRS4 protein_coding 10901 GO:0005829, GO:0005789, GO:0005782, GO:0005778, GO:0005777, GO:0005739, GO:0005634, cytosol, endoplasmic reticulum membrane, peroxisomal matrix, peroxisomal membrane, peroxisome, mitochondrion, nucleus, GO:0042802, GO:0018455, GO:0016655, GO:0004090, GO:0000253, identical protein binding, alcohol dehydrogenase [NAD(P)+] activity, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, carbonyl reductase (NADPH) activity, 3-keto sterol reductase activity, GO:0055114, GO:0055114, GO:0042180, GO:0008202, GO:0006625, GO:0006066, oxidation-reduction process, oxidation-reduction process, cellular ketone metabolic process, steroid metabolic process, protein targeting to peroxisome, alcohol metabolic process, 8 5 19 31 12 55 20 6 22 ENSG00000157330 chr1 12746215 12763699 + C1orf158 protein_coding 93190 0 0 0 0 0 0 0 0 0 ENSG00000157335 chr16 70173322 70187361 + CLEC18C protein_coding 283971 GO:0005794, GO:0005783, GO:0005768, GO:0005615, Golgi apparatus, endoplasmic reticulum, endosome, extracellular space, GO:0030247, GO:0030247, polysaccharide binding, polysaccharide binding, 9 4 3 19 8 0 6 3 8 ENSG00000157343 chr6 35737032 35749079 + ARMC12 protein_coding 221481 GO:0005634, nucleus, 0 1 1 0 2 0 6 1 5 ENSG00000157349 chr16 70289663 70335283 + DDX19B protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 11269 GO:0070062, GO:0016020, GO:0010494, GO:0005737, GO:0005654, GO:0005643, GO:0005634, extracellular exosome, membrane, cytoplasmic stress granule, cytoplasm, nucleoplasm, nuclear pore, nucleus, GO:0005524, GO:0005515, GO:0004386, GO:0003724, GO:0003723, ATP binding, protein binding, helicase activity, RNA helicase activity, RNA binding, GO:0016973, GO:0006406, poly(A)+ mRNA export from nucleus, mRNA export from nucleus, 37 48 44 47 46 51 40 30 42 ENSG00000157350 chr16 70375978 70439237 - ST3GAL2 protein_coding The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008]. 6483 GO:0032580, GO:0016021, GO:0005576, GO:0000139, GO:0000139, Golgi cisterna membrane, integral component of membrane, extracellular region, Golgi membrane, Golgi membrane, GO:0047288, GO:0042803, GO:0003836, GO:0003836, monosialoganglioside sialyltransferase activity, protein homodimerization activity, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, beta-galactoside (CMP) alpha-2,3-sialyltransferase activity, GO:1990743, GO:0097503, GO:0030259, GO:0018146, GO:0016266, GO:0010707, GO:0010706, GO:0009312, GO:0009247, GO:0009101, GO:0006486, protein sialylation, sialylation, lipid glycosylation, keratan sulfate biosynthetic process, O-glycan processing, globoside biosynthetic process via lactosylceramide, ganglioside biosynthetic process via lactosylceramide, oligosaccharide biosynthetic process, glycolipid biosynthetic process, glycoprotein biosynthetic process, protein glycosylation, 1689 1562 1914 843 1207 1253 1040 876 1034 ENSG00000157353 chr16 70454421 70480274 + FUK protein_coding The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]. 197258 GO:0005829, cytosol, GO:0050201, GO:0050201, GO:0050201, GO:0050201, GO:0005524, GO:0005515, fucokinase activity, fucokinase activity, fucokinase activity, fucokinase activity, ATP binding, protein binding, GO:0046835, GO:0042352, GO:0042352, carbohydrate phosphorylation, GDP-L-fucose salvage, GDP-L-fucose salvage, 41 40 57 81 74 62 64 46 73 ENSG00000157368 chr16 70579895 70660682 + IL34 protein_coding Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008]. 146433 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005157, GO:0005157, GO:0005125, growth factor activity, protein binding, macrophage colony-stimulating factor receptor binding, macrophage colony-stimulating factor receptor binding, cytokine activity, GO:0120041, GO:0061518, GO:0061514, GO:0061098, GO:0048714, GO:0045657, GO:0045657, GO:0045651, GO:0045651, GO:0045087, GO:0043406, GO:0019221, GO:0010759, GO:0010628, GO:0008284, GO:0008284, GO:0006954, GO:0001934, positive regulation of macrophage proliferation, microglial cell proliferation, interleukin-34-mediated signaling pathway, positive regulation of protein tyrosine kinase activity, positive regulation of oligodendrocyte differentiation, positive regulation of monocyte differentiation, positive regulation of monocyte differentiation, positive regulation of macrophage differentiation, positive regulation of macrophage differentiation, innate immune response, positive regulation of MAP kinase activity, cytokine-mediated signaling pathway, positive regulation of macrophage chemotaxis, positive regulation of gene expression, positive regulation of cell population proliferation, positive regulation of cell population proliferation, inflammatory response, positive regulation of protein phosphorylation, 4 3 8 0 0 0 0 0 0 ENSG00000157379 chr14 24290598 24299833 - DHRS1 protein_coding This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]. 115817 GO:0005783, endoplasmic reticulum, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, oxidation-reduction process, 96 170 106 71 78 72 86 72 105 ENSG00000157388 chr3 53328963 53813733 + CACNA1D protein_coding Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 776 GO:1990454, GO:0099059, GO:0098683, GO:0030018, GO:0005891, GO:0005886, GO:0005886, L-type voltage-gated calcium channel complex, integral component of presynaptic active zone membrane, cochlear hair cell ribbon synapse, Z disc, voltage-gated calcium channel complex, plasma membrane, plasma membrane, GO:0099635, GO:0086059, GO:0086007, GO:0051393, GO:0046872, GO:0030506, GO:0008331, GO:0005515, GO:0005262, GO:0005245, GO:0005245, voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels, voltage-gated calcium channel activity involved SA node cell action potential, voltage-gated calcium channel activity involved in cardiac muscle cell action potential, alpha-actinin binding, metal ion binding, ankyrin binding, high voltage-gated calcium channel activity, protein binding, calcium channel activity, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:1901379, GO:1901016, GO:0099703, GO:0086091, GO:0086046, GO:0086012, GO:0086002, GO:0070588, GO:0070509, GO:0070509, GO:0061337, GO:0060372, GO:0051928, GO:0050796, GO:0045762, GO:0007605, GO:0007188, GO:0006816, GO:0006816, regulation of potassium ion transmembrane transport, regulation of potassium ion transmembrane transporter activity, induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration, regulation of heart rate by cardiac conduction, membrane depolarization during SA node cell action potential, membrane depolarization during cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, calcium ion transmembrane transport, calcium ion import, calcium ion import, cardiac conduction, regulation of atrial cardiac muscle cell membrane repolarization, positive regulation of calcium ion transport, regulation of insulin secretion, positive regulation of adenylate cyclase activity, sensory perception of sound, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, calcium ion transport, calcium ion transport, 28 42 36 20 25 28 21 27 18 ENSG00000157399 chrX 2934632 2968310 - ARSE protein_coding Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]. 415 GO:0070062, GO:0005795, GO:0005794, GO:0005788, extracellular exosome, Golgi stack, Golgi apparatus, endoplasmic reticulum lumen, GO:0046872, GO:0004065, metal ion binding, arylsulfatase activity, GO:0001501, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000157404 chr4 54657918 54740715 + KIT protein_coding This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]. 3815 GO:0043235, GO:0009898, GO:0009897, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005615, GO:0001669, GO:0001650, receptor complex, cytoplasmic side of plasma membrane, external side of plasma membrane, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, acrosomal vesicle, fibrillar center, GO:0046872, GO:0042803, GO:0042169, GO:0019955, GO:0005524, GO:0005515, GO:0005020, GO:0004714, GO:0004714, GO:0004713, GO:0002020, metal ion binding, protein homodimerization activity, SH2 domain binding, cytokine binding, ATP binding, protein binding, stem cell factor receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protease binding, GO:1905065, GO:1904349, GO:1904343, GO:1904251, GO:0120072, GO:0097326, GO:0097324, GO:0097067, GO:0070662, GO:0060374, GO:0060374, GO:0060326, GO:0051897, GO:0051091, GO:0050910, GO:0050673, GO:0048863, GO:0048565, GO:0048170, GO:0048103, GO:0046777, GO:0046686, GO:0046427, GO:0046427, GO:0045747, GO:0043586, GO:0043552, GO:0043473, GO:0043410, GO:0043406, GO:0043303, GO:0043069, GO:0042531, GO:0042127, GO:0038162, GO:0038109, GO:0038109, GO:0038093, GO:0035855, GO:0035701, GO:0035234, GO:0035162, GO:0035019, GO:0033674, GO:0032762, GO:0031532, GO:0031274, GO:0030335, GO:0030318, GO:0030318, GO:0030218, GO:0030217, GO:0030183, GO:0030097, GO:0030032, GO:0019827, GO:0019221, GO:0018108, GO:0014068, GO:0010863, GO:0010628, GO:0008584, GO:0008542, GO:0008360, GO:0008354, GO:0008284, GO:0007286, GO:0007283, GO:0007283, GO:0007275, GO:0007169, GO:0007165, GO:0006954, GO:0006687, GO:0006357, GO:0002551, GO:0002371, GO:0002327, GO:0002320, GO:0002318, GO:0002244, GO:0001541, GO:0000187, GO:0000165, positive regulation of vascular associated smooth muscle cell differentiation, positive regulation of small intestine smooth muscle contraction, positive regulation of colon smooth muscle contraction, regulation of bile acid metabolic process, positive regulation of pyloric antrum smooth muscle contraction, melanocyte adhesion, melanocyte migration, cellular response to thyroid hormone stimulus, mast cell proliferation, mast cell differentiation, mast cell differentiation, cell chemotaxis, positive regulation of protein kinase B signaling, positive regulation of DNA-binding transcription factor activity, detection of mechanical stimulus involved in sensory perception of sound, epithelial cell proliferation, stem cell differentiation, digestive tract development, positive regulation of long-term neuronal synaptic plasticity, somatic stem cell division, protein autophosphorylation, response to cadmium ion, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of Notch signaling pathway, tongue development, positive regulation of phosphatidylinositol 3-kinase activity, pigmentation, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, mast cell degranulation, negative regulation of programmed cell death, positive regulation of tyrosine phosphorylation of STAT protein, regulation of cell population proliferation, erythropoietin-mediated signaling pathway, Kit signaling pathway, Kit signaling pathway, Fc receptor signaling pathway, megakaryocyte development, hematopoietic stem cell migration, ectopic germ cell programmed cell death, embryonic hemopoiesis, somatic stem cell population maintenance, positive regulation of kinase activity, mast cell cytokine production, actin cytoskeleton reorganization, positive regulation of pseudopodium assembly, positive regulation of cell migration, melanocyte differentiation, melanocyte differentiation, erythrocyte differentiation, T cell differentiation, B cell differentiation, hemopoiesis, lamellipodium assembly, stem cell population maintenance, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phospholipase C activity, positive regulation of gene expression, male gonad development, visual learning, regulation of cell shape, germ cell migration, positive regulation of cell population proliferation, spermatid development, spermatogenesis, spermatogenesis, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, inflammatory response, glycosphingolipid metabolic process, regulation of transcription by RNA polymerase II, mast cell chemotaxis, dendritic cell cytokine production, immature B cell differentiation, lymphoid progenitor cell differentiation, myeloid progenitor cell differentiation, hematopoietic progenitor cell differentiation, ovarian follicle development, activation of MAPK activity, MAPK cascade, 15 29 25 8 41 21 11 22 13 ENSG00000157423 chr16 70807378 71230722 - HYDIN protein_coding This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]. 54768 GO:1990718, GO:1990716, axonemal central pair projection, axonemal central apparatus, GO:1904158, GO:0060438, GO:0021591, GO:0003341, GO:0002064, axonemal central apparatus assembly, trachea development, ventricular system development, cilium movement, epithelial cell development, 1 1 0 0 0 0 0 1 0 ENSG00000157426 chr4 56338287 56387508 - AASDH protein_coding This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]. 132949 GO:0016878, GO:0005524, acid-thiol ligase activity, ATP binding, GO:0043041, GO:0019482, GO:0006631, amino acid activation for nonribosomal peptide biosynthetic process, beta-alanine metabolic process, fatty acid metabolic process, 31 23 24 19 26 46 30 23 43 ENSG00000157429 chr16 71464555 71565089 - ZNF19 protein_coding The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. [provided by RefSeq, Jul 2008]. 7567 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 2 1 3 2 4 0 0 2 ENSG00000157445 chr3 54122547 55074557 + CACNA2D3 protein_coding This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 55799 GO:0005891, GO:0005886, voltage-gated calcium channel complex, plasma membrane, GO:0046872, GO:0005245, metal ion binding, voltage-gated calcium channel activity, GO:0070588, GO:0061337, GO:0034765, calcium ion transmembrane transport, cardiac conduction, regulation of ion transmembrane transport, 3 0 0 3 7 9 1 2 0 ENSG00000157450 chr15 58865175 59097419 + RNF111 protein_coding The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]. 54778 GO:0032991, GO:0016605, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, protein-containing complex, PML body, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0061630, GO:0061630, GO:0061630, GO:0046872, GO:0046332, GO:0032184, GO:0032184, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, SMAD binding, SUMO polymer binding, SUMO polymer binding, protein binding, GO:0070911, GO:0045944, GO:0045893, GO:0045893, GO:0031398, GO:0030579, GO:0030511, GO:0016567, GO:0007389, GO:0006511, GO:0000209, global genome nucleotide-excision repair, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of protein ubiquitination, ubiquitin-dependent SMAD protein catabolic process, positive regulation of transforming growth factor beta receptor signaling pathway, protein ubiquitination, pattern specification process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 811 832 893 606 908 756 630 631 593 ENSG00000157456 chr15 59105078 59125045 + CCNB2 protein_coding Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq, Jul 2008]. 9133 GO:0016020, GO:0015630, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0005634, GO:0000307, membrane, microtubule cytoskeleton, cytosol, cytosol, centrosome, centrosome, cytoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0045296, GO:0016538, GO:0005515, cadherin binding, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0051726, GO:0051301, GO:0048538, GO:0044772, GO:0043029, GO:0040008, GO:0007077, GO:0001701, GO:0000086, GO:0000079, regulation of cell cycle, cell division, thymus development, mitotic cell cycle phase transition, T cell homeostasis, regulation of growth, mitotic nuclear envelope disassembly, in utero embryonic development, G2/M transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 3 2 3 16 10 3 2 7 14 ENSG00000157470 chr15 59372693 59523549 + FAM81A protein_coding 145773 GO:0005515, protein binding, 1 0 0 6 1 12 3 1 2 ENSG00000157483 chr15 59132434 59372900 - MYO1E protein_coding This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]. 4643 GO:0070062, GO:0045334, GO:0031982, GO:0016459, GO:0015629, GO:0005912, GO:0005903, GO:0005902, GO:0005886, GO:0005856, GO:0005737, GO:0005737, extracellular exosome, clathrin-coated endocytic vesicle, vesicle, myosin complex, actin cytoskeleton, adherens junction, brush border, microvillus, plasma membrane, cytoskeleton, cytoplasm, cytoplasm, GO:0051015, GO:0051015, GO:0035091, GO:0030898, GO:0016887, GO:0005524, GO:0005516, GO:0005515, GO:0003774, GO:0000146, GO:0000146, actin filament binding, actin filament binding, phosphatidylinositol binding, actin-dependent ATPase activity, ATPase activity, ATP binding, calmodulin binding, protein binding, motor activity, microfilament motor activity, microfilament motor activity, GO:0072015, GO:0048008, GO:0035166, GO:0032836, GO:0030050, GO:0030048, GO:0007015, GO:0006897, GO:0006807, GO:0003094, GO:0001701, GO:0001570, glomerular visceral epithelial cell development, platelet-derived growth factor receptor signaling pathway, post-embryonic hemopoiesis, glomerular basement membrane development, vesicle transport along actin filament, actin filament-based movement, actin filament organization, endocytosis, nitrogen compound metabolic process, glomerular filtration, in utero embryonic development, vasculogenesis, 3 6 6 15 15 22 7 8 6 ENSG00000157500 chr3 57227726 57278105 + APPL1 protein_coding The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]. 26060 GO:0097708, GO:0070062, GO:0044354, GO:0032009, GO:0031901, GO:0031410, GO:0016020, GO:0012506, GO:0010008, GO:0010008, GO:0010008, GO:0005886, GO:0005829, GO:0005769, GO:0005769, GO:0005768, GO:0005737, GO:0005634, GO:0001726, intracellular vesicle, extracellular exosome, macropinosome, early phagosome, early endosome membrane, cytoplasmic vesicle, membrane, vesicle membrane, endosome membrane, endosome membrane, endosome membrane, plasma membrane, cytosol, early endosome, early endosome, endosome, cytoplasm, nucleus, ruffle, GO:0048487, GO:0044877, GO:0043422, GO:0043422, GO:0042803, GO:0042802, GO:0035091, GO:0005515, GO:0001786, beta-tubulin binding, protein-containing complex binding, protein kinase B binding, protein kinase B binding, protein homodimerization activity, identical protein binding, phosphatidylinositol binding, protein binding, phosphatidylserine binding, GO:2000045, GO:1905450, GO:1905303, GO:1903076, GO:1900017, GO:0097192, GO:0048023, GO:0046326, GO:0046324, GO:0045088, GO:0035729, GO:0034143, GO:0033211, GO:0023052, GO:0010762, GO:0008286, GO:0008286, GO:0008286, GO:0007179, GO:0007165, GO:0007049, GO:0006606, regulation of G1/S transition of mitotic cell cycle, negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of macropinocytosis, regulation of protein localization to plasma membrane, positive regulation of cytokine production involved in inflammatory response, extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of melanin biosynthetic process, positive regulation of glucose import, regulation of glucose import, regulation of innate immune response, cellular response to hepatocyte growth factor stimulus, regulation of toll-like receptor 4 signaling pathway, adiponectin-activated signaling pathway, signaling, regulation of fibroblast migration, insulin receptor signaling pathway, insulin receptor signaling pathway, insulin receptor signaling pathway, transforming growth factor beta receptor signaling pathway, signal transduction, cell cycle, protein import into nucleus, 92 126 150 135 68 137 131 78 110 ENSG00000157502 chrX 106168305 106208956 + MUM1L1 protein_coding This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]. 139221 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000157510 chr5 149271871 149341802 + AFAP1L1 protein_coding 134265 GO:0071437, GO:0030054, GO:0005829, GO:0002102, invadopodium, cell junction, cytosol, podosome, GO:0017124, GO:0005515, SH3 domain binding, protein binding, 0 0 0 0 0 3 0 1 0 ENSG00000157514 chrX 107713221 107777342 - TSC22D3 protein_coding This gene encodes the anti-inflammatory protein glucocorticoid (GC)-induced leucine zipper. Expression of this gene stimulated by glucocorticoids and interleukin 10 and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid. This protein has also been shown to inhibit pro-inflammatory molecules including nuclear factor κB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 1831 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, GO:0003700, protein binding, DNA-binding transcription factor activity, GO:0034220, GO:0006355, ion transmembrane transport, regulation of transcription, DNA-templated, 7770 12525 12996 3086 11229 8499 4721 11475 8540 ENSG00000157538 chr21 37223420 37267919 - VPS26C protein_coding The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]. 10311 GO:0005768, GO:0005634, endosome, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1990126, GO:0032456, GO:0006886, retrograde transport, endosome to plasma membrane, endocytic recycling, intracellular protein transport, 419 518 567 360 407 381 353 376 287 ENSG00000157540 chr21 37365573 37526358 + DYRK1A protein_coding This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]. 1859 GO:1990904, GO:0030425, GO:0030424, GO:0016607, GO:0016607, GO:0005856, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, ribonucleoprotein complex, dendrite, axon, nuclear speck, nuclear speck, cytoskeleton, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0050321, GO:0048156, GO:0048156, GO:0043621, GO:0042802, GO:0005524, GO:0005515, GO:0004715, GO:0004713, GO:0004712, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0003713, tau-protein kinase activity, tau protein binding, tau protein binding, protein self-association, identical protein binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, transcription coactivator activity, GO:0090312, GO:0048025, GO:0046777, GO:0045893, GO:0043518, GO:0038083, GO:0038083, GO:0036289, GO:0034205, GO:0033120, GO:0031115, GO:0018108, GO:0018108, GO:0018107, GO:0018107, GO:0018105, GO:0018105, GO:0018105, GO:0016032, GO:0007623, GO:0007399, GO:0006468, GO:0006468, GO:0000381, positive regulation of protein deacetylation, negative regulation of mRNA splicing, via spliceosome, protein autophosphorylation, positive regulation of transcription, DNA-templated, negative regulation of DNA damage response, signal transduction by p53 class mediator, peptidyl-tyrosine autophosphorylation, peptidyl-tyrosine autophosphorylation, peptidyl-serine autophosphorylation, amyloid-beta formation, positive regulation of RNA splicing, negative regulation of microtubule polymerization, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, viral process, circadian rhythm, nervous system development, protein phosphorylation, protein phosphorylation, regulation of alternative mRNA splicing, via spliceosome, 2008 2092 2662 1431 2188 2085 1436 1679 1427 ENSG00000157542 chr21 37607376 38121345 - KCNJ6 protein_coding This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]. 3763 GO:0008076, GO:0005886, GO:0005886, GO:0005886, GO:0005794, voltage-gated potassium channel complex, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0015467, GO:0005515, GO:0005242, G-protein activated inward rectifier potassium channel activity, protein binding, inward rectifier potassium channel activity, GO:1990573, GO:0034765, GO:0006813, potassium ion import across plasma membrane, regulation of ion transmembrane transport, potassium ion transport, 1 2 2 0 0 0 0 0 1 ENSG00000157551 chr21 38155549 38307357 + KCNJ15 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013]. 3772 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005242, protein binding, inward rectifier potassium channel activity, GO:1990573, GO:0034765, GO:0006813, potassium ion import across plasma membrane, regulation of ion transmembrane transport, potassium ion transport, 6178 3758 9007 3912 3523 6315 4210 2344 5263 ENSG00000157554 chr21 38380027 38661780 - ERG protein_coding This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]. 2078 GO:1990904, GO:0005737, GO:0005634, GO:0000785, ribonucleoprotein complex, cytoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0030154, GO:0007275, GO:0007165, GO:0006468, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cell differentiation, multicellular organism development, signal transduction, protein phosphorylation, regulation of transcription by RNA polymerase II, 1 0 1 0 1 9 1 1 4 ENSG00000157557 chr21 38805307 38824955 + ETS2 protein_coding This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 2114 GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0035259, GO:0019904, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, glucocorticoid receptor binding, protein domain specific binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090009, GO:0045944, GO:0045893, GO:0030154, GO:0007498, GO:0006357, GO:0001712, GO:0001501, GO:0000122, primitive streak formation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, cell differentiation, mesoderm development, regulation of transcription by RNA polymerase II, ectodermal cell fate commitment, skeletal system development, negative regulation of transcription by RNA polymerase II, 2229 1820 5063 2681 2192 5063 3686 2030 4883 ENSG00000157570 chr11 44726465 44932421 + TSPAN18 protein_coding 90139 GO:0005887, integral component of plasma membrane, 38 27 58 86 26 49 44 22 55 ENSG00000157578 chr21 39405844 39445805 - LCA5L protein_coding 150082 GO:0005930, axoneme, GO:0005515, protein binding, GO:0042073, intraciliary transport, 10 11 9 22 34 20 14 18 18 ENSG00000157593 chr6 44254096 44257890 - SLC35B2 protein_coding Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]. 347734 GO:0030176, GO:0030173, GO:0016021, GO:0016020, GO:0005794, GO:0000139, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, GO:0046964, GO:0046964, GO:0022857, GO:0005515, 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity, 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity, transmembrane transporter activity, protein binding, GO:1902559, GO:0050428, GO:0046963, GO:0043123, 3'-phospho-5'-adenylyl sulfate transmembrane transport, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, 3'-phosphoadenosine 5'-phosphosulfate transport, positive regulation of I-kappaB kinase/NF-kappaB signaling, 92 60 265 142 172 666 257 138 638 ENSG00000157600 chrX 110002631 110182734 + TMEM164 protein_coding 84187 GO:0016021, integral component of membrane, 4987 5691 5957 2070 4103 2835 2397 3402 2348 ENSG00000157601 chr21 41420304 41459214 + MX1 protein_coding This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 4599 GO:0098844, GO:0098793, GO:0048471, GO:0044327, GO:0031966, GO:0031965, GO:0031410, GO:0030424, GO:0016020, GO:0015630, GO:0014069, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005789, GO:0005737, GO:0005737, GO:0005634, postsynaptic endocytic zone membrane, presynapse, perinuclear region of cytoplasm, dendritic spine head, mitochondrial membrane, nuclear membrane, cytoplasmic vesicle, axon, membrane, microtubule cytoskeleton, postsynaptic density, plasma membrane, cytosol, cytosol, cytosol, endoplasmic reticulum membrane, cytoplasm, cytoplasm, nucleus, GO:0042802, GO:0008017, GO:0005525, GO:0005515, GO:0003924, identical protein binding, microtubule binding, GTP binding, protein binding, GTPase activity, GO:0098884, GO:0061025, GO:0060337, GO:0051607, GO:0050803, GO:0048285, GO:0045087, GO:0045071, GO:0034340, GO:0031623, GO:0016185, GO:0009615, GO:0007165, GO:0006952, GO:0006915, GO:0003374, GO:0000266, postsynaptic neurotransmitter receptor internalization, membrane fusion, type I interferon signaling pathway, defense response to virus, regulation of synapse structure or activity, organelle fission, innate immune response, negative regulation of viral genome replication, response to type I interferon, receptor internalization, synaptic vesicle budding from presynaptic endocytic zone membrane, response to virus, signal transduction, defense response, apoptotic process, dynamin family protein polymerization involved in mitochondrial fission, mitochondrial fission, 1097 782 1751 1050 893 1580 1175 675 1156 ENSG00000157613 chr11 46277661 46321422 + CREB3L1 protein_coding The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]. 90993 GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0046332, GO:0035497, GO:0035497, GO:0005515, GO:0003682, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000976, sequence-specific double-stranded DNA binding, SMAD binding, cAMP response element binding, cAMP response element binding, protein binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, GO:1990440, GO:1903671, GO:1902236, GO:0070278, GO:0045892, GO:0040037, GO:0032967, GO:0030968, GO:0016032, GO:0010629, GO:0007275, GO:0006357, GO:0001649, GO:0000122, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, negative regulation of sprouting angiogenesis, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, extracellular matrix constituent secretion, negative regulation of transcription, DNA-templated, negative regulation of fibroblast growth factor receptor signaling pathway, positive regulation of collagen biosynthetic process, endoplasmic reticulum unfolded protein response, viral process, negative regulation of gene expression, multicellular organism development, regulation of transcription by RNA polymerase II, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000157617 chr21 41885112 41953890 - C2CD2 protein_coding 25966 GO:0016021, GO:0005829, GO:0005634, integral component of membrane, cytosol, nucleus, 3 7 11 10 17 35 22 9 12 ENSG00000157625 chrX 30827442 30975084 - TAB3 protein_coding The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 257397 GO:0070062, GO:0010008, GO:0005886, GO:0005829, extracellular exosome, endosome membrane, plasma membrane, cytosol, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0070498, GO:0070423, GO:0051092, GO:0043123, GO:0043123, GO:0038095, GO:0010507, GO:0007254, GO:0007249, GO:0002755, GO:0002223, GO:0000187, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, Fc-epsilon receptor signaling pathway, negative regulation of autophagy, JNK cascade, I-kappaB kinase/NF-kappaB signaling, MyD88-dependent toll-like receptor signaling pathway, stimulatory C-type lectin receptor signaling pathway, activation of MAPK activity, 996 821 1098 673 1037 976 959 715 873 ENSG00000157637 chr17 81245000 81295547 - SLC38A10 protein_coding 124565 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, GO:0015171, amino acid transmembrane transporter activity, GO:0060348, GO:0006814, GO:0003333, bone development, sodium ion transport, amino acid transmembrane transport, 890 1169 1123 483 656 625 630 583 549 ENSG00000157653 chr9 113410054 113429684 + C9orf43 protein_coding 257169 GO:0005515, protein binding, 20 22 23 17 17 29 18 12 15 ENSG00000157654 chr9 109780309 110172512 + PALM2-AKAP2 protein_coding This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019]. 445815 GO:0005886, plasma membrane, GO:0005515, protein binding, GO:0008360, regulation of cell shape, 0 0 0 0 0 0 0 0 0 ENSG00000157657 chr9 113876282 114056591 + ZNF618 protein_coding 114991 GO:0005721, pericentric heterochromatin, GO:0046872, GO:0042802, GO:0008134, GO:0005515, GO:0003700, GO:0003677, metal ion binding, identical protein binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, GO:0035563, GO:0006355, positive regulation of chromatin binding, regulation of transcription, DNA-templated, 1 5 6 15 2 3 5 6 0 ENSG00000157680 chr7 137381037 137847092 - DGKI protein_coding This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]. 9162 GO:0099147, GO:0098978, GO:0098685, GO:0060076, GO:0048786, GO:0048471, GO:0045202, GO:0043679, GO:0043197, GO:0043025, GO:0032991, GO:0032045, GO:0008021, GO:0005886, GO:0005829, GO:0005737, GO:0005634, GO:0005634, extrinsic component of postsynaptic density membrane, glutamatergic synapse, Schaffer collateral - CA1 synapse, excitatory synapse, presynaptic active zone, perinuclear region of cytoplasm, synapse, axon terminus, dendritic spine, neuronal cell body, protein-containing complex, guanyl-nucleotide exchange factor complex, synaptic vesicle, plasma membrane, cytosol, cytoplasm, nucleus, nucleus, GO:0046872, GO:0031267, GO:0005524, GO:0005515, GO:0005095, GO:0004143, GO:0004143, GO:0003951, metal ion binding, small GTPase binding, ATP binding, protein binding, GTPase inhibitor activity, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:2000300, GO:1900452, GO:0060079, GO:0051966, GO:0046959, GO:0046834, GO:0046834, GO:0046579, GO:0046339, GO:0035556, GO:0034260, GO:0030168, GO:0007269, GO:0007205, regulation of synaptic vesicle exocytosis, regulation of long-term synaptic depression, excitatory postsynaptic potential, regulation of synaptic transmission, glutamatergic, habituation, lipid phosphorylation, lipid phosphorylation, positive regulation of Ras protein signal transduction, diacylglycerol metabolic process, intracellular signal transduction, negative regulation of GTPase activity, platelet activation, neurotransmitter secretion, protein kinase C-activating G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000157693 chr9 114611206 114646422 + TMEM268 protein_coding 203197 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 61 78 94 89 135 87 87 86 52 ENSG00000157703 chr7 138594285 138701352 - SVOPL protein_coding The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016]. 136306 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, transmembrane transport, 4 0 1 0 0 1 0 0 0 ENSG00000157734 chr15 64151715 64157481 + SNX22 protein_coding The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]. 79856 GO:0030659, cytoplasmic vesicle membrane, GO:1901981, GO:0035091, phosphatidylinositol phosphate binding, phosphatidylinositol binding, GO:0015031, protein transport, 467 391 436 312 449 428 292 362 401 ENSG00000157741 chr7 139230356 139308236 + UBN2 protein_coding 254048 GO:0005654, GO:0005615, nucleoplasm, extracellular space, 348 404 482 260 510 446 405 347 414 ENSG00000157764 chr7 140719327 140924928 - BRAF protein_coding This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]. 673 GO:0043231, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005634, intracellular membrane-bounded organelle, plasma membrane, plasma membrane, cytosol, cytosol, nucleus, GO:0106311, GO:0106310, GO:0097110, GO:0042802, GO:0031267, GO:0005524, GO:0005515, GO:0005509, GO:0004674, GO:0004672, GO:0004672, GO:0004672, protein threonine kinase activity, protein serine kinase activity, scaffold protein binding, identical protein binding, small GTPase binding, ATP binding, protein binding, calcium ion binding, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, protein kinase activity, GO:0090150, GO:0071277, GO:0070413, GO:0070374, GO:0043066, GO:0033138, GO:0010828, GO:0010628, GO:0009887, GO:0007173, GO:0006468, GO:0000186, GO:0000165, GO:0000165, establishment of protein localization to membrane, cellular response to calcium ion, trehalose metabolism in response to stress, positive regulation of ERK1 and ERK2 cascade, negative regulation of apoptotic process, positive regulation of peptidyl-serine phosphorylation, positive regulation of glucose transmembrane transport, positive regulation of gene expression, animal organ morphogenesis, epidermal growth factor receptor signaling pathway, protein phosphorylation, activation of MAPKK activity, MAPK cascade, MAPK cascade, 1135 1131 1255 633 715 724 611 595 580 ENSG00000157765 chr4 25648011 25678748 + SLC34A2 protein_coding The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 10568 GO:0031982, GO:0031982, GO:0031526, GO:0016324, GO:0016324, GO:0016021, GO:0016021, GO:0005903, GO:0005887, GO:0005886, vesicle, vesicle, brush border membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, integral component of membrane, brush border, integral component of plasma membrane, plasma membrane, GO:0042301, GO:0031402, GO:0005436, GO:0005436, phosphate ion binding, sodium ion binding, sodium:phosphate symporter activity, sodium:phosphate symporter activity, GO:0044341, GO:0044267, GO:0043627, GO:0035725, GO:0030643, GO:0030643, GO:0006817, GO:0001701, sodium-dependent phosphate transport, cellular protein metabolic process, response to estrogen, sodium ion transmembrane transport, cellular phosphate ion homeostasis, cellular phosphate ion homeostasis, phosphate ion transport, in utero embryonic development, 0 0 0 0 0 0 0 0 0 ENSG00000157766 chr15 88803442 88875354 + ACAN protein_coding This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]. 176 GO:0062023, GO:0062023, GO:0043202, GO:0031012, GO:0005796, GO:0005604, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, extracellular matrix, Golgi lumen, basement membrane, extracellular region, GO:0046872, GO:0030246, GO:0030021, GO:0005540, GO:0005515, GO:0005201, metal ion binding, carbohydrate binding, extracellular matrix structural constituent conferring compression resistance, hyaluronic acid binding, protein binding, extracellular matrix structural constituent, GO:0042340, GO:0030199, GO:0030198, GO:0030166, GO:0018146, GO:0007507, GO:0007417, GO:0007155, GO:0006508, GO:0002063, GO:0001502, GO:0001501, GO:0001501, keratan sulfate catabolic process, collagen fibril organization, extracellular matrix organization, proteoglycan biosynthetic process, keratan sulfate biosynthetic process, heart development, central nervous system development, cell adhesion, proteolysis, chondrocyte development, cartilage condensation, skeletal system development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000157778 chr7 1567330 1571005 - PSMG3 protein_coding 84262 GO:0032991, protein-containing complex, GO:0060090, GO:0044877, GO:0005515, molecular adaptor activity, protein-containing complex binding, protein binding, GO:0051131, chaperone-mediated protein complex assembly, 11 15 27 39 48 25 31 23 34 ENSG00000157782 chr12 120640552 120667324 + CABP1 protein_coding Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012]. 9478 GO:0048471, GO:0014069, GO:0005938, GO:0005886, GO:0005856, GO:0005615, GO:0000139, perinuclear region of cytoplasm, postsynaptic density, cell cortex, plasma membrane, cytoskeleton, extracellular space, Golgi membrane, GO:0048306, GO:0008139, GO:0005515, GO:0005509, GO:0004857, calcium-dependent protein binding, nuclear localization sequence binding, protein binding, calcium ion binding, enzyme inhibitor activity, GO:0050896, GO:0043086, GO:0042308, GO:0007601, response to stimulus, negative regulation of catalytic activity, negative regulation of protein import into nucleus, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000157796 chr4 39182404 39285810 + WDR19 protein_coding The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 57728 GO:0097730, GO:0097542, GO:0032391, GO:0031514, GO:0030991, GO:0030991, GO:0005929, GO:0005929, GO:0005856, GO:0005737, GO:0001750, non-motile cilium, ciliary tip, photoreceptor connecting cilium, motile cilium, intraciliary transport particle A, intraciliary transport particle A, cilium, cilium, cytoskeleton, cytoplasm, photoreceptor outer segment, GO:0005515, protein binding, GO:1903441, GO:0065003, GO:0061055, GO:0060831, GO:0060830, GO:0060271, GO:0055123, GO:0050877, GO:0048701, GO:0042471, GO:0035735, GO:0035721, GO:0035721, GO:0031076, GO:0030326, GO:0008406, GO:0001701, GO:0000902, protein localization to ciliary membrane, protein-containing complex assembly, myotome development, smoothened signaling pathway involved in dorsal/ventral neural tube patterning, ciliary receptor clustering involved in smoothened signaling pathway, cilium assembly, digestive system development, nervous system process, embryonic cranial skeleton morphogenesis, ear morphogenesis, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, intraciliary retrograde transport, embryonic camera-type eye development, embryonic limb morphogenesis, gonad development, in utero embryonic development, cell morphogenesis, 168 197 340 207 220 269 211 177 273 ENSG00000157800 chr7 140293693 140404433 - SLC37A3 protein_coding 84255 GO:0030176, GO:0030176, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, GO:0061513, glucose 6-phosphate:inorganic phosphate antiporter activity, GO:0035435, GO:0015760, GO:0008643, phosphate ion transmembrane transport, glucose-6-phosphate transport, carbohydrate transport, 349 206 420 485 371 601 469 280 468 ENSG00000157823 chr15 89830599 89894638 - AP3S2 protein_coding 10239 GO:1904115, GO:0043231, GO:0043231, GO:0030659, GO:0030123, GO:0005794, axon cytoplasm, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, cytoplasmic vesicle membrane, AP-3 adaptor complex, Golgi apparatus, GO:0048490, GO:0016192, GO:0008089, GO:0006886, anterograde synaptic vesicle transport, vesicle-mediated transport, anterograde axonal transport, intracellular protein transport, 88 122 116 59 113 66 76 82 81 ENSG00000157827 chr2 152335237 152649834 + FMNL2 protein_coding This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 114793 GO:0005829, GO:0005829, cytosol, cytosol, GO:0051015, GO:0045296, GO:0031267, actin filament binding, cadherin binding, small GTPase binding, GO:0030866, GO:0030866, GO:0022604, GO:0016477, GO:0008360, GO:0007010, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, regulation of cell morphogenesis, cell migration, regulation of cell shape, cytoskeleton organization, 15 27 25 14 23 20 20 20 24 ENSG00000157833 chr2 26173091 26189663 + GAREM2 protein_coding 150946 4 3 4 7 5 5 9 2 4 ENSG00000157837 chr12 120762510 120904371 - SPPL3 protein_coding 121665 GO:0071556, GO:0071556, GO:0071458, GO:0071458, GO:0043231, GO:0033116, GO:0030660, GO:0030660, GO:0016020, GO:0005886, GO:0005794, GO:0005791, integral component of lumenal side of endoplasmic reticulum membrane, integral component of lumenal side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, intracellular membrane-bounded organelle, endoplasmic reticulum-Golgi intermediate compartment membrane, Golgi-associated vesicle membrane, Golgi-associated vesicle membrane, membrane, plasma membrane, Golgi apparatus, rough endoplasmic reticulum, GO:0042803, GO:0042500, GO:0042500, GO:0042500, GO:0005515, protein homodimerization activity, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, aspartic endopeptidase activity, intramembrane cleaving, protein binding, GO:0070886, GO:0050852, GO:0050852, GO:0035307, GO:0033619, GO:0033619, GO:0032092, GO:0007204, GO:0006509, GO:0006465, positive regulation of calcineurin-NFAT signaling cascade, T cell receptor signaling pathway, T cell receptor signaling pathway, positive regulation of protein dephosphorylation, membrane protein proteolysis, membrane protein proteolysis, positive regulation of protein binding, positive regulation of cytosolic calcium ion concentration, membrane protein ectodomain proteolysis, signal peptide processing, 417 419 559 278 449 359 269 280 258 ENSG00000157851 chr2 26847747 26950351 + DPYSL5 protein_coding This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]. 56896 GO:0043025, GO:0030425, GO:0005829, neuronal cell body, dendrite, cytosol, GO:0008017, GO:0005515, GO:0004157, microtubule binding, protein binding, dihydropyrimidinase activity, GO:0007411, GO:0007399, GO:0007165, GO:0006208, axon guidance, nervous system development, signal transduction, pyrimidine nucleobase catabolic process, 0 0 0 0 0 0 2 0 0 ENSG00000157856 chr2 26401916 26456711 + DRC1 protein_coding This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]. 92749 GO:0031514, GO:0005930, GO:0005930, GO:0005858, GO:0005829, motile cilium, axoneme, axoneme, axonemal dynein complex, cytosol, GO:0070286, GO:0070286, GO:0060285, GO:0060285, GO:0007507, GO:0007368, GO:0003352, axonemal dynein complex assembly, axonemal dynein complex assembly, cilium-dependent cell motility, cilium-dependent cell motility, heart development, determination of left/right symmetry, regulation of cilium movement, 17 12 19 4 16 13 1 18 3 ENSG00000157869 chr4 13361354 13484365 - RAB28 protein_coding This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]. 9364 GO:0036064, GO:0035253, GO:0012505, GO:0005886, GO:0005737, ciliary basal body, ciliary rootlet, endomembrane system, plasma membrane, cytoplasm, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GO:1901998, GO:0006886, toxin transport, intracellular protein transport, 114 91 141 70 84 112 73 88 74 ENSG00000157870 chr1 2586491 2591469 + PRXL2B protein_coding 127281 GO:0070062, GO:0043209, GO:0005829, GO:0005783, GO:0005737, extracellular exosome, myelin sheath, cytosol, endoplasmic reticulum, cytoplasm, GO:0047017, GO:0016616, GO:0016209, GO:0005515, prostaglandin-F synthase activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, antioxidant activity, protein binding, GO:0098869, GO:0055114, GO:0001516, cellular oxidant detoxification, oxidation-reduction process, prostaglandin biosynthetic process, 1 2 1 1 1 4 4 1 1 ENSG00000157873 chr1 2555639 2565382 + TNFRSF14 protein_coding This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 8764 GO:0016021, GO:0009897, GO:0005886, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0031625, GO:0019955, GO:0005515, GO:0005031, GO:0001618, ubiquitin protein ligase binding, cytokine binding, protein binding, tumor necrosis factor-activated receptor activity, virus receptor activity, GO:2000406, GO:1905675, GO:0050830, GO:0050829, GO:0050731, GO:0046718, GO:0046642, GO:0045087, GO:0033209, GO:0031295, GO:0031295, GO:0007166, GO:0006955, GO:0002720, GO:0002250, positive regulation of T cell migration, negative regulation of adaptive immune memory response, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, positive regulation of peptidyl-tyrosine phosphorylation, viral entry into host cell, negative regulation of alpha-beta T cell proliferation, innate immune response, tumor necrosis factor-mediated signaling pathway, T cell costimulation, T cell costimulation, cell surface receptor signaling pathway, immune response, positive regulation of cytokine production involved in immune response, adaptive immune response, 31 41 76 49 586 56 306 101 399 ENSG00000157881 chr1 2508533 2526628 - PANK4 protein_coding This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]. 55229 GO:0005829, GO:0005634, cytosol, nucleus, GO:0046872, GO:0016787, GO:0005524, GO:0004594, metal ion binding, hydrolase activity, ATP binding, pantothenate kinase activity, GO:0016310, GO:0015937, phosphorylation, coenzyme A biosynthetic process, 33 75 98 63 81 65 16 53 57 ENSG00000157884 chr2 26581202 26641368 - CIB4 protein_coding 130106 GO:0005515, GO:0005509, GO:0000287, protein binding, calcium ion binding, magnesium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000157890 chr15 65895079 66253747 - MEGF11 protein_coding 84465 GO:0016323, GO:0016021, basolateral plasma membrane, integral component of membrane, GO:0005515, protein binding, GO:0034109, GO:0010842, homotypic cell-cell adhesion, retina layer formation, 8 10 7 11 17 6 8 11 11 ENSG00000157895 chr12 121000486 121016502 - C12orf43 protein_coding 64897 GO:0005635, nuclear envelope, GO:0005515, protein binding, GO:0060061, GO:0030178, GO:0016055, GO:0007275, Spemann organizer formation, negative regulation of Wnt signaling pathway, Wnt signaling pathway, multicellular organism development, 19 32 36 41 22 36 28 19 39 ENSG00000157911 chr1 2403964 2413797 - PEX10 protein_coding This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 5192 GO:0005778, GO:0005778, GO:0005777, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0016567, GO:0016558, GO:0016558, GO:0007031, GO:0006625, protein ubiquitination, protein import into peroxisome matrix, protein import into peroxisome matrix, peroxisome organization, protein targeting to peroxisome, 105 151 122 84 166 128 105 153 98 ENSG00000157916 chr1 2391775 2405444 + RER1 protein_coding The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]. 11079 GO:0030173, GO:0030173, GO:0009986, GO:0005886, GO:0005794, GO:0005793, GO:0005783, integral component of Golgi membrane, integral component of Golgi membrane, cell surface, plasma membrane, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, GO:0033130, GO:0005515, GO:0003674, acetylcholine receptor binding, protein binding, molecular_function, GO:1903078, GO:0071340, GO:0006890, GO:0006890, GO:0006621, positive regulation of protein localization to plasma membrane, skeletal muscle acetylcholine-gated channel clustering, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, protein retention in ER lumen, 889 950 988 613 949 836 634 806 650 ENSG00000157927 chr7 4797055 4883719 - RADIL protein_coding 55698 GO:0032991, GO:0005874, protein-containing complex, microtubule, GO:0005515, protein binding, GO:0034446, GO:0007275, GO:0007165, substrate adhesion-dependent cell spreading, multicellular organism development, signal transduction, 1 1 3 63 28 20 23 5 13 ENSG00000157933 chr1 2228695 2310119 + SKI protein_coding This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]. 6497 GO:0032991, GO:0017053, GO:0016605, GO:0016604, GO:0005813, GO:0005737, GO:0005667, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, transcription repressor complex, PML body, nuclear body, centrosome, cytoplasm, transcription regulator complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0070491, GO:0046811, GO:0046332, GO:0046332, GO:0042802, GO:0031625, GO:0019904, GO:0019901, GO:0008270, GO:0005515, GO:0001227, GO:0000981, GO:0000978, repressing transcription factor binding, histone deacetylase inhibitor activity, SMAD binding, SMAD binding, identical protein binding, ubiquitin protein ligase binding, protein domain specific binding, protein kinase binding, zinc ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060395, GO:0060349, GO:0060325, GO:0060041, GO:0060021, GO:0048870, GO:0048741, GO:0048593, GO:0048147, GO:0045944, GO:0045668, GO:0043585, GO:0043388, GO:0043010, GO:0035019, GO:0032926, GO:0031064, GO:0030514, GO:0030514, GO:0030514, GO:0030512, GO:0030512, GO:0030512, GO:0030512, GO:0030509, GO:0030326, GO:0030177, GO:0022011, GO:0021772, GO:0014902, GO:0010626, GO:0009948, GO:0008285, GO:0007179, GO:0006351, GO:0002089, GO:0001843, GO:0000122, GO:0000122, GO:0000122, GO:0000122, SMAD protein signal transduction, bone morphogenesis, face morphogenesis, retina development in camera-type eye, roof of mouth development, cell motility, skeletal muscle fiber development, camera-type eye morphogenesis, negative regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, negative regulation of osteoblast differentiation, nose morphogenesis, positive regulation of DNA binding, camera-type eye development, somatic stem cell population maintenance, negative regulation of activin receptor signaling pathway, negative regulation of histone deacetylation, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, embryonic limb morphogenesis, positive regulation of Wnt signaling pathway, myelination in peripheral nervous system, olfactory bulb development, myotube differentiation, negative regulation of Schwann cell proliferation, anterior/posterior axis specification, negative regulation of cell population proliferation, transforming growth factor beta receptor signaling pathway, transcription, DNA-templated, lens morphogenesis in camera-type eye, neural tube closure, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1337 1954 2918 758 1217 1338 861 969 938 ENSG00000157954 chr7 5190188 5233826 + WIPI2 protein_coding WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]. 26100 GO:0034045, GO:0034045, GO:0032991, GO:0019898, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005776, GO:0005654, GO:0000407, phagophore assembly site membrane, phagophore assembly site membrane, protein-containing complex, extrinsic component of membrane, membrane, cytosol, cytosol, cytosol, autophagosome, nucleoplasm, phagophore assembly site, GO:0080025, GO:0080025, GO:0032266, GO:0032266, GO:0005515, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, protein binding, GO:0098792, GO:0097352, GO:0061739, GO:0044804, GO:0034497, GO:0034497, GO:0016236, GO:0009267, GO:0006497, GO:0000422, GO:0000045, xenophagy, autophagosome maturation, protein lipidation involved in autophagosome assembly, autophagy of nucleus, protein localization to phagophore assembly site, protein localization to phagophore assembly site, macroautophagy, cellular response to starvation, protein lipidation, autophagy of mitochondrion, autophagosome assembly, 909 1010 1050 904 1323 1174 1026 888 1083 ENSG00000157965 chrX 52624998 52632895 + SSX8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000157978 chr1 25543580 25568886 + LDLRAP1 protein_coding The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]. 26119 GO:0055037, GO:0030665, GO:0030424, GO:0009925, GO:0009898, GO:0005886, GO:0005883, GO:0005829, GO:0005769, GO:0005769, recycling endosome, clathrin-coated vesicle membrane, axon, basal plasma membrane, cytoplasmic side of plasma membrane, plasma membrane, neurofilament, cytosol, early endosome, early endosome, GO:0050750, GO:0035650, GO:0035615, GO:0035612, GO:0035591, GO:0030276, GO:0030159, GO:0005546, GO:0005515, GO:0001784, GO:0001540, low-density lipoprotein particle receptor binding, AP-1 adaptor complex binding, clathrin adaptor activity, AP-2 adaptor complex binding, signaling adaptor activity, clathrin binding, signaling receptor complex adaptor activity, phosphatidylinositol-4,5-bisphosphate binding, protein binding, phosphotyrosine residue binding, amyloid-beta binding, GO:1905602, GO:1905581, GO:1904707, GO:1903076, GO:0090205, GO:0090118, GO:0071345, GO:0061024, GO:0048260, GO:0043393, GO:0042982, GO:0042632, GO:0034383, GO:0031623, GO:0030301, GO:0008203, GO:0006898, positive regulation of receptor-mediated endocytosis involved in cholesterol transport, positive regulation of low-density lipoprotein particle clearance, positive regulation of vascular associated smooth muscle cell proliferation, regulation of protein localization to plasma membrane, positive regulation of cholesterol metabolic process, receptor-mediated endocytosis involved in cholesterol transport, cellular response to cytokine stimulus, membrane organization, positive regulation of receptor-mediated endocytosis, regulation of protein binding, amyloid precursor protein metabolic process, cholesterol homeostasis, low-density lipoprotein particle clearance, receptor internalization, cholesterol transport, cholesterol metabolic process, receptor-mediated endocytosis, 91 54 117 230 70 179 204 63 152 ENSG00000157985 chr2 235494089 236131800 + AGAP1 protein_coding This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 116987 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0005543, GO:0005525, GO:0005515, GO:0005096, GO:0003924, metal ion binding, phospholipid binding, GTP binding, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0015031, positive regulation of GTPase activity, protein transport, 15 3 31 27 7 33 25 9 29 ENSG00000157992 chr2 27442366 27446481 + KRTCAP3 protein_coding 200634 GO:0016021, integral component of membrane, GO:0005515, protein binding, 7 6 3 10 14 20 25 9 10 ENSG00000157999 chr7 6031376 6036386 + ANKRD61 protein_coding 100310846 GO:0005654, nucleoplasm, 1 0 1 5 9 1 1 3 0 ENSG00000158006 chr1 25959767 25998157 - PAFAH2 protein_coding This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008]. 5051 GO:0005789, GO:0005737, endoplasmic reticulum membrane, cytoplasm, GO:0047179, GO:0005543, GO:0003847, GO:0003847, GO:0003847, platelet-activating factor acetyltransferase activity, phospholipid binding, 1-alkyl-2-acetylglycerophosphocholine esterase activity, 1-alkyl-2-acetylglycerophosphocholine esterase activity, 1-alkyl-2-acetylglycerophosphocholine esterase activity, GO:0043066, GO:0016042, GO:0007596, GO:0006629, negative regulation of apoptotic process, lipid catabolic process, blood coagulation, lipid metabolic process, 77 64 122 44 60 113 59 55 76 ENSG00000158008 chr1 26019884 26036464 + EXTL1 protein_coding This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]. 2134 GO:0016021, GO:0005794, GO:0005789, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, GO:0050508, GO:0016757, GO:0015020, GO:0008375, GO:0005515, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, transferase activity, transferring glycosyl groups, glucuronosyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0036498, GO:0006486, GO:0001501, IRE1-mediated unfolded protein response, protein glycosylation, skeletal system development, 0 0 2 0 0 0 0 0 4 ENSG00000158014 chr1 26037252 26046133 - SLC30A2 protein_coding The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. 7780 GO:0043231, GO:0016021, GO:0005886, GO:0005770, GO:0005765, GO:0005737, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, late endosome, lysosomal membrane, cytoplasm, GO:0042802, GO:0005515, GO:0005385, identical protein binding, protein binding, zinc ion transmembrane transporter activity, GO:0071577, GO:0061090, GO:0061088, GO:0010043, zinc ion transmembrane transport, positive regulation of sequestering of zinc ion, regulation of sequestering of zinc ion, response to zinc ion, 0 0 0 0 0 0 0 0 0 ENSG00000158019 chr2 27889941 28338901 + BABAM2 protein_coding This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]. 9577 GO:0070552, GO:0070531, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000152, BRISC complex, BRCA1-A complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nuclear ubiquitin ligase complex, GO:0031593, GO:0005515, GO:0005164, GO:0000268, polyubiquitin modification-dependent protein binding, protein binding, tumor necrosis factor receptor binding, peroxisome targeting sequence binding, GO:0072425, GO:0070536, GO:0051301, GO:0045739, GO:0043066, GO:0016579, GO:0010212, GO:0007165, GO:0007049, GO:0006974, GO:0006915, GO:0006325, GO:0006303, GO:0006302, signal transduction involved in G2 DNA damage checkpoint, protein K63-linked deubiquitination, cell division, positive regulation of DNA repair, negative regulation of apoptotic process, protein deubiquitination, response to ionizing radiation, signal transduction, cell cycle, cellular response to DNA damage stimulus, apoptotic process, chromatin organization, double-strand break repair via nonhomologous end joining, double-strand break repair, 177 322 202 5247 8533 7759 3507 6336 5358 ENSG00000158022 chr1 26051304 26068436 - TRIM63 protein_coding This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]. 84676 GO:0031430, GO:0030018, GO:0005874, GO:0005737, GO:0005737, GO:0005737, GO:0005634, M band, Z disc, microtubule, cytoplasm, cytoplasm, cytoplasm, nucleus, GO:0061630, GO:0031432, GO:0008270, GO:0005515, ubiquitin protein ligase activity, titin binding, zinc ion binding, protein binding, GO:0070555, GO:0051384, GO:0016567, GO:0016567, GO:0014878, GO:0014732, GO:0010614, GO:0007165, GO:0006936, response to interleukin-1, response to glucocorticoid, protein ubiquitination, protein ubiquitination, response to electrical stimulus involved in regulation of muscle adaptation, skeletal muscle atrophy, negative regulation of cardiac muscle hypertrophy, signal transduction, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000158023 chr12 121917862 122003927 + WDR66 protein_coding This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 144406 GO:0036126, GO:0036126, GO:0031514, GO:0031514, GO:0005930, GO:0001536, sperm flagellum, sperm flagellum, motile cilium, motile cilium, axoneme, radial spoke stalk, GO:0030317, GO:0003341, flagellated sperm motility, cilium movement, 10 8 17 27 17 9 15 11 9 ENSG00000158042 chr11 6680782 6683401 - MRPL17 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 63875 GO:0015934, GO:0005762, GO:0005762, GO:0005743, GO:0005739, large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0019904, GO:0005515, GO:0003735, protein domain specific binding, protein binding, structural constituent of ribosome, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 11 4 8 25 6 10 6 10 11 ENSG00000158050 chr2 96143166 96145440 - DUSP2 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. [provided by RefSeq, Jul 2008]. 1844 GO:0031965, GO:0005737, GO:0005654, GO:0005634, nuclear membrane, cytoplasm, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0051019, GO:0017017, GO:0008330, GO:0005515, GO:0004725, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, MAP kinase tyrosine/serine/threonine phosphatase activity, protein tyrosine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0035970, GO:0035335, GO:0006470, GO:0001706, GO:0000188, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, endoderm formation, inactivation of MAPK activity, 187 182 524 6141 6287 9596 6512 6263 9490 ENSG00000158055 chr1 24319322 24364482 + GRHL3 protein_coding This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]. 57822 GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, chromatin, GO:0043565, GO:0031490, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000978, sequence-specific DNA binding, chromatin DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090179, GO:0090103, GO:0061436, GO:0061029, GO:0045944, GO:0043547, GO:0042060, GO:0032956, GO:0008544, GO:0007417, GO:0007398, GO:0007389, GO:0006357, GO:0001843, GO:0001736, planar cell polarity pathway involved in neural tube closure, cochlea morphogenesis, establishment of skin barrier, eyelid development in camera-type eye, positive regulation of transcription by RNA polymerase II, positive regulation of GTPase activity, wound healing, regulation of actin cytoskeleton organization, epidermis development, central nervous system development, ectoderm development, pattern specification process, regulation of transcription by RNA polymerase II, neural tube closure, establishment of planar polarity, 0 0 0 0 0 0 0 0 0 ENSG00000158062 chr1 26281328 26318363 - UBXN11 protein_coding This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 91544 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0043130, GO:0005515, ubiquitin binding, protein binding, GO:0043161, proteasome-mediated ubiquitin-dependent protein catabolic process, 1309 1299 1578 1560 1865 2065 1325 1492 1605 ENSG00000158077 chr11 7020446 7071308 + NLRP14 protein_coding The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]. 338323 GO:0005737, cytoplasm, GO:0005524, ATP binding, GO:0030154, GO:0007283, GO:0007275, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000158079 chr9 94030794 94109856 + PTPDC1 protein_coding The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 138639 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0008138, GO:0005515, GO:0004725, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, GO:0060271, GO:0035335, cilium assembly, peptidyl-tyrosine dephosphorylation, 9 2 10 32 6 28 19 9 13 ENSG00000158089 chr2 30910467 31155202 - GALNT14 protein_coding This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]. 79623 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, O-glycan processing, 77 129 120 53 106 97 68 87 45 ENSG00000158092 chr3 136862208 136949823 + NCK1 protein_coding The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010]. 4690 GO:0012506, GO:0005911, GO:0005886, GO:0005886, GO:0005840, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005634, GO:0000164, vesicle membrane, cell-cell junction, plasma membrane, plasma membrane, ribosome, cytosol, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, protein phosphatase type 1 complex, GO:0071074, GO:0046875, GO:0045296, GO:0035591, GO:0030971, GO:0030674, GO:0030674, GO:0030159, GO:0019904, GO:0008093, GO:0005515, GO:0005102, GO:0004860, eukaryotic initiation factor eIF2 binding, ephrin receptor binding, cadherin binding, signaling adaptor activity, receptor tyrosine kinase binding, protein-macromolecule adaptor activity, protein-macromolecule adaptor activity, signaling receptor complex adaptor activity, protein domain specific binding, cytoskeletal anchor activity, protein binding, signaling receptor binding, protein kinase inhibitor activity, GO:1990441, GO:1903912, GO:1903898, GO:1903679, GO:1903676, GO:1902237, GO:0070262, GO:0060548, GO:0051707, GO:0050852, GO:0048013, GO:0048010, GO:0046627, GO:0045944, GO:0042110, GO:0042102, GO:0038096, GO:0036493, GO:0033137, GO:0030838, GO:0030334, GO:0030032, GO:0010976, GO:0007172, GO:0007015, GO:0006930, GO:0006469, negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation, negative regulation of PERK-mediated unfolded protein response, positive regulation of cap-independent translational initiation, positive regulation of cap-dependent translational initiation, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, peptidyl-serine dephosphorylation, negative regulation of cell death, response to other organism, T cell receptor signaling pathway, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, negative regulation of insulin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, T cell activation, positive regulation of T cell proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of translation in response to endoplasmic reticulum stress, negative regulation of peptidyl-serine phosphorylation, positive regulation of actin filament polymerization, regulation of cell migration, lamellipodium assembly, positive regulation of neuron projection development, signal complex assembly, actin filament organization, substrate-dependent cell migration, cell extension, negative regulation of protein kinase activity, 146 90 141 106 84 156 92 84 135 ENSG00000158104 chr12 121839527 121863596 - HPD protein_coding The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 3242 GO:0070062, GO:0005829, GO:0005789, GO:0000139, extracellular exosome, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0046872, GO:0003868, GO:0003868, metal ion binding, 4-hydroxyphenylpyruvate dioxygenase activity, 4-hydroxyphenylpyruvate dioxygenase activity, GO:0055114, GO:0006572, GO:0006572, GO:0006559, GO:0006559, oxidation-reduction process, tyrosine catabolic process, tyrosine catabolic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, 6 5 14 3 7 4 9 2 12 ENSG00000158106 chr8 143368887 143384220 + RHPN1 protein_coding 114822 GO:0005829, cytosol, GO:0005515, protein binding, GO:0007165, signal transduction, 35 21 32 51 21 24 32 15 32 ENSG00000158109 chr1 3625002 3630127 + TPRG1L protein_coding 127262 GO:0070062, GO:0048786, GO:0044305, GO:0030672, GO:0008021, GO:0008021, GO:0005737, extracellular exosome, presynaptic active zone, calyx of Held, synaptic vesicle membrane, synaptic vesicle, synaptic vesicle, cytoplasm, GO:0042802, GO:0003674, identical protein binding, molecular_function, GO:0051966, GO:0008150, regulation of synaptic transmission, glutamatergic, biological_process, 1294 1427 1035 517 680 521 501 622 484 ENSG00000158113 chr12 122167738 122203471 + LRRC43 protein_coding 254050 1 0 0 1 6 2 0 1 0 ENSG00000158122 chr9 96639577 96655303 - PRXL2C protein_coding 195827 GO:0016209, antioxidant activity, GO:0098869, GO:0070374, GO:0055114, GO:0045821, cellular oxidant detoxification, positive regulation of ERK1 and ERK2 cascade, oxidation-reduction process, positive regulation of glycolytic process, 23 13 44 25 27 46 22 17 23 ENSG00000158125 chr2 31334321 31414715 - XDH protein_coding Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]. 7498 GO:0016529, GO:0005829, GO:0005829, GO:0005777, GO:0005615, GO:0005615, sarcoplasmic reticulum, cytosol, cytosol, peroxisome, extracellular space, extracellular space, GO:0071949, GO:0051537, GO:0050660, GO:0050660, GO:0043546, GO:0042803, GO:0009055, GO:0005515, GO:0005506, GO:0004855, GO:0004854, GO:0004854, FAD binding, 2 iron, 2 sulfur cluster binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, molybdopterin cofactor binding, protein homodimerization activity, electron transfer activity, protein binding, iron ion binding, xanthine oxidase activity, xanthine dehydrogenase activity, xanthine dehydrogenase activity, GO:2001213, GO:2000379, GO:1900747, GO:1900745, GO:0051898, GO:0045602, GO:0022900, GO:0010629, GO:0009115, GO:0009115, GO:0007595, GO:0006919, GO:0006195, GO:0001937, GO:0001933, negative regulation of vasculogenesis, positive regulation of reactive oxygen species metabolic process, negative regulation of vascular endothelial growth factor signaling pathway, positive regulation of p38MAPK cascade, negative regulation of protein kinase B signaling, negative regulation of endothelial cell differentiation, electron transport chain, negative regulation of gene expression, xanthine catabolic process, xanthine catabolic process, lactation, activation of cysteine-type endopeptidase activity involved in apoptotic process, purine nucleotide catabolic process, negative regulation of endothelial cell proliferation, negative regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000158156 chr1 27959462 27968096 + XKR8 protein_coding 55113 GO:0016021, GO:0016020, GO:0005886, GO:0005886, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:1902742, GO:0070782, GO:0070782, GO:0043652, GO:0043652, apoptotic process involved in development, phosphatidylserine exposure on apoptotic cell surface, phosphatidylserine exposure on apoptotic cell surface, engulfment of apoptotic cell, engulfment of apoptotic cell, 2212 1931 2749 190 673 537 327 664 390 ENSG00000158158 chr2 96760902 96811891 + CNNM4 protein_coding This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]. 26504 GO:0043231, GO:0043025, GO:0032991, GO:0030425, GO:0016323, GO:0016021, GO:0005886, intracellular membrane-bounded organelle, neuronal cell body, protein-containing complex, dendrite, basolateral plasma membrane, integral component of membrane, plasma membrane, GO:0022857, GO:0015095, GO:0015081, GO:0005515, transmembrane transporter activity, magnesium ion transmembrane transporter activity, sodium ion transmembrane transporter activity, protein binding, GO:1903830, GO:0070166, GO:0055065, GO:0050896, GO:0035725, GO:0015693, GO:0010960, GO:0007601, GO:0006810, magnesium ion transmembrane transport, enamel mineralization, metal ion homeostasis, response to stimulus, sodium ion transmembrane transport, magnesium ion transport, magnesium ion homeostasis, visual perception, transport, 155 147 213 136 124 207 137 110 172 ENSG00000158161 chr1 27970344 28088696 - EYA3 protein_coding This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 2140 GO:0005813, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, centrosome, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0004725, GO:0004725, metal ion binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:2001240, GO:0048856, GO:0045739, GO:0045739, GO:0035335, GO:0030154, GO:0016576, GO:0016576, GO:0010212, GO:0009653, GO:0007601, GO:0007275, GO:0006302, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, anatomical structure development, positive regulation of DNA repair, positive regulation of DNA repair, peptidyl-tyrosine dephosphorylation, cell differentiation, histone dephosphorylation, histone dephosphorylation, response to ionizing radiation, anatomical structure morphogenesis, visual perception, multicellular organism development, double-strand break repair, 353 396 550 333 492 430 310 388 306 ENSG00000158163 chr3 138061990 138115818 - DZIP1L protein_coding 199221 GO:0036064, GO:0036064, GO:0005930, GO:0005814, GO:0005814, GO:0005737, ciliary basal body, ciliary basal body, axoneme, centriole, centriole, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:1905349, GO:0061512, GO:0060271, GO:0060271, GO:0033504, GO:0032880, GO:0021532, GO:0007224, ciliary transition zone assembly, protein localization to cilium, cilium assembly, cilium assembly, floor plate development, regulation of protein localization, neural tube patterning, smoothened signaling pathway, 1 0 2 0 0 3 1 0 1 ENSG00000158164 chrX 102513676 102516784 - TMSB15A protein_coding 11013 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0003785, actin monomer binding, GO:0042989, GO:0030334, GO:0007015, sequestering of actin monomers, regulation of cell migration, actin filament organization, 0 0 0 0 0 0 0 0 0 ENSG00000158169 chr9 95099054 95426796 - FANCC protein_coding The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]. 2176 GO:0043240, GO:0043240, GO:0005829, GO:0005737, GO:0005654, GO:0005634, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0097150, GO:0065003, GO:0048854, GO:0036297, GO:0034599, GO:0019430, GO:0007281, GO:0006289, GO:0006281, GO:0002262, neuronal stem cell population maintenance, protein-containing complex assembly, brain morphogenesis, interstrand cross-link repair, cellular response to oxidative stress, removal of superoxide radicals, germ cell development, nucleotide-excision repair, DNA repair, myeloid cell homeostasis, 1 1 20 13 2 3 11 1 5 ENSG00000158186 chr3 138347648 138405534 + MRAS protein_coding This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 22808 GO:0005886, plasma membrane, GO:0030742, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GTP-dependent protein binding, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1990830, GO:0030036, GO:0007517, GO:0007275, GO:0007265, GO:0007265, cellular response to leukemia inhibitory factor, actin cytoskeleton organization, muscle organ development, multicellular organism development, Ras protein signal transduction, Ras protein signal transduction, 1 0 2 3 1 0 0 0 0 ENSG00000158195 chr1 27404226 27490158 - WASF2 protein_coding This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 10163 GO:0070062, GO:0032991, GO:0031209, GO:0031209, GO:0031209, GO:0030027, GO:0030027, GO:0016323, GO:0015629, GO:0005911, GO:0005829, GO:0005769, GO:0001726, extracellular exosome, protein-containing complex, SCAR complex, SCAR complex, SCAR complex, lamellipodium, lamellipodium, basolateral plasma membrane, actin cytoskeleton, cell-cell junction, cytosol, early endosome, ruffle, GO:0071933, GO:0051018, GO:0045296, GO:0034237, GO:0017124, GO:0005515, GO:0003779, Arp2/3 complex binding, protein kinase A binding, cadherin binding, protein kinase A regulatory subunit binding, SH3 domain binding, protein binding, actin binding, GO:2000601, GO:0098974, GO:0072673, GO:0051497, GO:0048010, GO:0038096, GO:0035855, GO:0030048, GO:0030036, GO:0030032, GO:0016601, GO:0016032, GO:0010592, GO:0007188, GO:0006897, GO:0001667, GO:0001525, positive regulation of Arp2/3 complex-mediated actin nucleation, postsynaptic actin cytoskeleton organization, lamellipodium morphogenesis, negative regulation of stress fiber assembly, vascular endothelial growth factor receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, megakaryocyte development, actin filament-based movement, actin cytoskeleton organization, lamellipodium assembly, Rac protein signal transduction, viral process, positive regulation of lamellipodium assembly, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, endocytosis, ameboidal-type cell migration, angiogenesis, 2332 2409 3045 1226 2005 1879 1463 1732 1462 ENSG00000158201 chr18 21650897 21704805 - ABHD3 protein_coding This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]. 171586 GO:0016021, GO:0005886, GO:0005575, integral component of membrane, plasma membrane, cellular_component, GO:0102568, GO:0102567, GO:0052740, GO:0052739, GO:0047372, GO:0034338, GO:0008970, GO:0008970, GO:0008970, GO:0008126, GO:0004623, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, acylglycerol lipase activity, short-chain carboxylesterase activity, phospholipase A1 activity, phospholipase A1 activity, phospholipase A1 activity, acetylesterase activity, phospholipase A2 activity, phospholipase A2 activity, GO:0051793, GO:0051792, GO:0046470, GO:0046470, GO:0044255, GO:0006656, medium-chain fatty acid catabolic process, medium-chain fatty acid biosynthetic process, phosphatidylcholine metabolic process, phosphatidylcholine metabolic process, cellular lipid metabolic process, phosphatidylcholine biosynthetic process, 1953 1323 1937 2229 2255 2514 2376 1710 2142 ENSG00000158220 chr3 138434586 138481686 + ESYT3 protein_coding 83850 GO:0140268, GO:0044232, GO:0031234, GO:0031234, GO:0031227, GO:0031227, GO:0005887, GO:0005789, endoplasmic reticulum-plasma membrane contact site, organelle membrane contact site, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, intrinsic component of endoplasmic reticulum membrane, intrinsic component of endoplasmic reticulum membrane, integral component of plasma membrane, endoplasmic reticulum membrane, GO:0035091, GO:0031210, GO:0008429, GO:0005544, GO:0005515, GO:0005509, phosphatidylinositol binding, phosphatidylcholine binding, phosphatidylethanolamine binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, GO:0061817, GO:0006869, GO:0006687, endoplasmic reticulum-plasma membrane tethering, lipid transport, glycosphingolipid metabolic process, 0 0 0 4 0 0 0 0 0 ENSG00000158234 chr3 138608606 138633376 + FAIM protein_coding The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. 55179 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:1902042, GO:0050769, GO:0007249, GO:0006915, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of neurogenesis, I-kappaB kinase/NF-kappaB signaling, apoptotic process, 4 5 5 7 13 17 11 17 10 ENSG00000158246 chr1 27005020 27012836 - TENT5B protein_coding 115572 GO:1990817, GO:0005515, RNA adenylyltransferase activity, protein binding, GO:0048255, mRNA stabilization, 0 1 2 2 1 5 3 2 2 ENSG00000158258 chr3 139935185 140577397 + CLSTN2 protein_coding 64084 GO:0099061, GO:0098978, GO:0045211, GO:0030425, GO:0009986, GO:0005789, GO:0000139, integral component of postsynaptic density membrane, glutamatergic synapse, postsynaptic membrane, dendrite, cell surface, endoplasmic reticulum membrane, Golgi membrane, GO:0005509, calcium ion binding, GO:0051965, GO:0050806, GO:0007156, positive regulation of synapse assembly, positive regulation of synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 0 0 0 0 0 3 0 ENSG00000158270 chr18 316740 500722 - COLEC12 protein_coding This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]. 81035 GO:0031012, GO:0030666, GO:0016021, GO:0005886, GO:0005615, GO:0005581, extracellular matrix, endocytic vesicle membrane, integral component of membrane, plasma membrane, extracellular space, collagen trimer, GO:0046872, GO:0038187, GO:0038187, GO:0030169, GO:0030169, GO:0005534, GO:0005044, GO:0005044, metal ion binding, pattern recognition receptor activity, pattern recognition receptor activity, low-density lipoprotein particle binding, low-density lipoprotein particle binding, galactose binding, scavenger receptor activity, scavenger receptor activity, GO:0071360, GO:0071360, GO:0060355, GO:0050776, GO:0045087, GO:0042742, GO:0034138, GO:0009756, GO:0006952, GO:0006910, GO:0006898, cellular response to exogenous dsRNA, cellular response to exogenous dsRNA, positive regulation of cell adhesion molecule production, regulation of immune response, innate immune response, defense response to bacterium, toll-like receptor 3 signaling pathway, carbohydrate mediated signaling, defense response, phagocytosis, recognition, receptor-mediated endocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000158286 chr1 6205475 6221299 + RNF207 protein_coding 388591 GO:0048471, perinuclear region of cytoplasm, GO:0051087, GO:0044325, GO:0030544, GO:0008270, GO:0005515, chaperone binding, ion channel binding, Hsp70 protein binding, zinc ion binding, protein binding, GO:1903954, GO:1903762, GO:1903762, GO:1902261, GO:1901207, GO:0086019, GO:0055117, GO:0010628, positive regulation of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization, positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, positive regulation of delayed rectifier potassium channel activity, regulation of heart looping, cell-cell signaling involved in cardiac conduction, regulation of cardiac muscle contraction, positive regulation of gene expression, 0 1 6 5 1 94 12 4 1 ENSG00000158290 chrX 120524609 120575794 - CUL4B protein_coding This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8450 GO:0080008, GO:0080008, GO:0070062, GO:0031465, GO:0031465, GO:0031461, GO:0019005, GO:0005829, GO:0005654, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, extracellular exosome, Cul4B-RING E3 ubiquitin ligase complex, Cul4B-RING E3 ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, nucleoplasm, nucleoplasm, GO:0031625, GO:0005515, GO:0004842, GO:0003684, ubiquitin protein ligase binding, protein binding, ubiquitin-protein transferase activity, damaged DNA binding, GO:1900087, GO:0070914, GO:0070911, GO:0045732, GO:0043687, GO:0042769, GO:0042254, GO:0035518, GO:0033683, GO:0031175, GO:0031146, GO:0016567, GO:0016567, GO:0010498, GO:0010498, GO:0006974, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006283, GO:0000717, GO:0000715, GO:0000082, positive regulation of G1/S transition of mitotic cell cycle, UV-damage excision repair, global genome nucleotide-excision repair, positive regulation of protein catabolic process, post-translational protein modification, DNA damage response, detection of DNA damage, ribosome biogenesis, histone H2A monoubiquitination, nucleotide-excision repair, DNA incision, neuron projection development, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, proteasomal protein catabolic process, proteasomal protein catabolic process, cellular response to DNA damage stimulus, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, G1/S transition of mitotic cell cycle, 1173 1258 1272 527 845 758 786 755 672 ENSG00000158292 chr1 6247346 6260975 - GPR153 protein_coding This gene encodes an integral membrane protein that belongs to the Class A rhodopsin superfamily of G protein coupled receptors. The encoded protein is expressed primarily in the central nervous system. A knockdown of the orthologous gene in rat is associated with a significant reduction in food intake and impaired decision making ability. Mutations in this gene are associated with schizophrenia, autism, and other neuropsychiatric disorders. The expression of this gene is activated by the glioma-associated oncogene homolog 1 transcription factor which, in turn, is activated by sonic hedgehog in normal and tumorigenic cells. [provided by RefSeq, Feb 2017]. 387509 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 4 14 3 0 7 0 1 3 ENSG00000158296 chr20 46557823 46684467 - SLC13A3 protein_coding Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]. 64849 GO:0070062, GO:0016323, GO:0016021, GO:0005886, GO:0005886, extracellular exosome, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0034634, GO:0017153, GO:0017153, GO:0017153, GO:0015362, GO:0015141, GO:0015141, GO:0015141, GO:0015139, GO:0015137, GO:0015137, GO:0005515, GO:0005310, GO:0005310, glutathione transmembrane transporter activity, sodium:dicarboxylate symporter activity, sodium:dicarboxylate symporter activity, sodium:dicarboxylate symporter activity, high-affinity sodium:dicarboxylate symporter activity, succinate transmembrane transporter activity, succinate transmembrane transporter activity, succinate transmembrane transporter activity, alpha-ketoglutarate transmembrane transporter activity, citrate transmembrane transporter activity, citrate transmembrane transporter activity, protein binding, dicarboxylic acid transmembrane transporter activity, dicarboxylic acid transmembrane transporter activity, GO:0150104, GO:0098656, GO:0071422, GO:0071422, GO:0034775, GO:0015746, GO:0015746, GO:0015742, GO:0006835, GO:0006835, GO:0006814, transport across blood-brain barrier, anion transmembrane transport, succinate transmembrane transport, succinate transmembrane transport, glutathione transmembrane transport, citrate transport, citrate transport, alpha-ketoglutarate transport, dicarboxylic acid transport, dicarboxylic acid transport, sodium ion transport, 0 0 0 1 0 4 2 0 2 ENSG00000158301 chrX 102712176 102717733 + GPRASP2 protein_coding The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]. 114928 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0001664, GO:0001540, protein binding, G protein-coupled receptor binding, amyloid-beta binding, 2 0 0 6 0 6 4 0 0 ENSG00000158315 chr1 38885807 38941799 - RHBDL2 protein_coding The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]. 54933 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 2 0 9 7 6 3 2 4 ENSG00000158321 chr7 69598296 70793495 + AUTS2 protein_coding This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]. 26053 GO:0030426, GO:0015629, GO:0005737, GO:0005634, GO:0005575, growth cone, actin cytoskeleton, cytoplasm, nucleus, cellular_component, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:2000620, GO:0097484, GO:0051571, GO:0048675, GO:0045944, GO:0035022, GO:0031532, GO:0010592, GO:0001764, positive regulation of histone H4-K16 acetylation, dendrite extension, positive regulation of histone H3-K4 methylation, axon extension, positive regulation of transcription by RNA polymerase II, positive regulation of Rac protein signal transduction, actin cytoskeleton reorganization, positive regulation of lamellipodium assembly, neuron migration, 67 61 148 53 15 67 45 18 57 ENSG00000158352 chrX 50591647 50814302 - SHROOM4 protein_coding This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]. 57477 GO:0043296, GO:0043231, GO:0030864, GO:0030864, GO:0016324, GO:0016324, GO:0015629, GO:0009925, GO:0009898, GO:0005925, GO:0005912, GO:0005884, GO:0005737, GO:0001725, apical junction complex, intracellular membrane-bounded organelle, cortical actin cytoskeleton, cortical actin cytoskeleton, apical plasma membrane, apical plasma membrane, actin cytoskeleton, basal plasma membrane, cytoplasmic side of plasma membrane, focal adhesion, adherens junction, actin filament, cytoplasm, stress fiber, GO:0051015, GO:0051015, GO:0045159, actin filament binding, actin filament binding, myosin II binding, GO:0050890, GO:0030036, GO:0007420, GO:0007015, GO:0007015, GO:0000902, cognition, actin cytoskeleton organization, brain development, actin filament organization, actin filament organization, cell morphogenesis, 7 3 8 3 5 2 3 0 0 ENSG00000158373 chr6 26158146 26171349 + HIST1H2BD protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 3017 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleosome, GO:0046982, GO:0005515, GO:0003677, GO:0003674, protein heterodimerization activity, protein binding, DNA binding, molecular_function, GO:0016567, GO:0006334, protein ubiquitination, nucleosome assembly, 92 269 319 43 222 190 55 209 177 ENSG00000158402 chr5 138285265 138338355 - CDC25C protein_coding This gene encodes a conserved protein that plays a key role in the regulation of cell division. The encoded protein directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It also suppresses p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Dec 2015]. 995 GO:0048471, GO:0016607, GO:0005829, GO:0005758, GO:0005737, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, nuclear speck, cytosol, mitochondrial intermembrane space, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0050699, GO:0019901, GO:0005515, GO:0004725, GO:0004725, WW domain binding, protein kinase binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0110032, GO:0051301, GO:0035335, GO:0016032, GO:0010971, GO:0008283, GO:0007283, GO:0007088, GO:0006977, GO:0000086, GO:0000086, GO:0000086, GO:0000079, positive regulation of G2/MI transition of meiotic cell cycle, cell division, peptidyl-tyrosine dephosphorylation, viral process, positive regulation of G2/M transition of mitotic cell cycle, cell population proliferation, spermatogenesis, regulation of mitotic nuclear division, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 197 178 181 187 228 219 184 162 119 ENSG00000158406 chr6 26277609 26285638 - HIST1H4H protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8365 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 101 150 141 82 247 159 98 173 160 ENSG00000158411 chr2 99161427 99181058 - MITD1 protein_coding Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 129531 GO:0070062, GO:0043231, GO:0031902, GO:0030496, GO:0030496, GO:0019898, extracellular exosome, intracellular membrane-bounded organelle, late endosome membrane, midbody, midbody, extrinsic component of membrane, GO:0042802, GO:0035091, GO:0019904, GO:0005515, identical protein binding, phosphatidylinositol binding, protein domain specific binding, protein binding, GO:0071985, GO:0061952, GO:0039702, GO:0032091, GO:0000281, multivesicular body sorting pathway, midbody abscission, viral budding via host ESCRT complex, negative regulation of protein binding, mitotic cytokinesis, 224 227 469 213 164 188 269 156 208 ENSG00000158417 chr2 99337353 99401326 + EIF5B protein_coding Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008]. 9669 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0046872, GO:0005525, GO:0005515, GO:0003924, GO:0003743, GO:0003743, GO:0003743, GO:0003723, metal ion binding, GTP binding, protein binding, GTPase activity, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, RNA binding, GO:0006446, GO:0006446, GO:0006413, regulation of translational initiation, regulation of translational initiation, translational initiation, 157 157 266 351 194 418 252 132 306 ENSG00000158423 chrX 53422690 53431120 + RIBC1 protein_coding 158787 GO:0005515, protein binding, 8 11 10 7 13 4 8 8 5 ENSG00000158427 chrX 103918896 103966712 + TMSB15B protein_coding 286527 GO:0005856, GO:0005737, GO:0005575, cytoskeleton, cytoplasm, cellular_component, GO:0003785, GO:0003674, actin monomer binding, molecular_function, GO:0042989, GO:0030335, GO:0030334, GO:0007015, sequestering of actin monomers, positive regulation of cell migration, regulation of cell migration, actin filament organization, 0 0 1 2 0 5 1 1 9 ENSG00000158428 chr2 218356856 218368099 + CATIP protein_coding 375307 GO:0015629, GO:0005886, GO:0005737, GO:0005634, actin cytoskeleton, plasma membrane, cytoplasm, nucleus, GO:0005515, protein binding, GO:0044782, GO:0044782, GO:0030041, GO:0030041, cilium organization, cilium organization, actin filament polymerization, actin filament polymerization, 121 97 95 178 178 135 197 114 163 ENSG00000158435 chr2 101252802 101270316 + CNOT11 protein_coding 55571 GO:0030014, GO:0005829, GO:0005634, CCR4-NOT complex, cytosol, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0031047, GO:0006977, GO:0006417, GO:0000289, gene silencing by RNA, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of translation, nuclear-transcribed mRNA poly(A) tail shortening, 369 376 468 286 435 322 388 303 358 ENSG00000158445 chr20 49293394 49484297 - KCNB1 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]. 3745 GO:0045211, GO:0043204, GO:0042383, GO:0032809, GO:0032809, GO:0032590, GO:0030425, GO:0030424, GO:0030424, GO:0016328, GO:0016021, GO:0008076, GO:0008076, GO:0008076, GO:0005886, GO:0005886, postsynaptic membrane, perikaryon, sarcolemma, neuronal cell body membrane, neuronal cell body membrane, dendrite membrane, dendrite, axon, axon, lateral plasma membrane, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0046982, GO:0044325, GO:0005515, GO:0005251, GO:0005251, GO:0005251, GO:0005249, protein heterodimerization activity, ion channel binding, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:2000671, GO:1900454, GO:0098900, GO:0090314, GO:0090314, GO:0072659, GO:0071805, GO:0071805, GO:0071805, GO:0071333, GO:0051260, GO:0050796, GO:0046676, GO:0045956, GO:0042593, GO:0034765, GO:0033605, GO:0031669, GO:0010701, GO:0007215, GO:0006904, GO:0001508, GO:0001508, regulation of motor neuron apoptotic process, positive regulation of long-term synaptic depression, regulation of action potential, positive regulation of protein targeting to membrane, positive regulation of protein targeting to membrane, protein localization to plasma membrane, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to glucose stimulus, protein homooligomerization, regulation of insulin secretion, negative regulation of insulin secretion, positive regulation of calcium ion-dependent exocytosis, glucose homeostasis, regulation of ion transmembrane transport, positive regulation of catecholamine secretion, cellular response to nutrient levels, positive regulation of norepinephrine secretion, glutamate receptor signaling pathway, vesicle docking involved in exocytosis, action potential, action potential, 45 24 45 13 42 59 41 25 55 ENSG00000158457 chr7 129144892 129169697 + TSPAN33 protein_coding 340348 GO:0097197, GO:0046930, GO:0009986, GO:0005912, GO:0005887, GO:0005886, GO:0005886, GO:0005788, tetraspanin-enriched microdomain, pore complex, cell surface, adherens junction, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum lumen, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:0072659, GO:0072659, GO:0051604, GO:0051604, GO:0046931, GO:0044267, protein localization to plasma membrane, protein localization to plasma membrane, protein maturation, protein maturation, pore complex assembly, cellular protein metabolic process, 8 2 10 5 10 11 10 13 5 ENSG00000158458 chr5 139846779 140043299 - NRG2 protein_coding This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010]. 9542 GO:0016021, GO:0005886, GO:0005615, GO:0005576, integral component of membrane, plasma membrane, extracellular space, extracellular region, GO:0008083, GO:0005102, growth factor activity, signaling receptor binding, GO:2000145, GO:0051897, GO:0048513, GO:0038128, GO:0035556, GO:0007399, GO:0007165, GO:0000165, regulation of cell motility, positive regulation of protein kinase B signaling, animal organ development, ERBB2 signaling pathway, intracellular signal transduction, nervous system development, signal transduction, MAPK cascade, 0 0 2 0 0 0 0 0 0 ENSG00000158467 chr7 129225023 129430211 + AHCYL2 protein_coding The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 23382 GO:0043005, GO:0005829, GO:0005783, neuron projection, cytosol, endoplasmic reticulum, GO:0005515, GO:0004013, protein binding, adenosylhomocysteinase activity, GO:0033353, GO:0006730, S-adenosylmethionine cycle, one-carbon metabolic process, 66 86 76 52 59 81 73 44 71 ENSG00000158470 chr20 49632945 49713878 - B4GALT5 protein_coding This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]. 9334 GO:0032580, GO:0016021, GO:0000139, Golgi cisterna membrane, integral component of membrane, Golgi membrane, GO:0046872, GO:0008489, GO:0008378, GO:0003945, metal ion binding, UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity, galactosyltransferase activity, N-acetyllactosamine synthase activity, GO:0042551, GO:0040019, GO:0031647, GO:0030311, GO:0022010, GO:0021955, GO:0018146, GO:0016266, GO:0010706, GO:0006486, neuron maturation, positive regulation of embryonic development, regulation of protein stability, poly-N-acetyllactosamine biosynthetic process, central nervous system myelination, central nervous system neuron axonogenesis, keratan sulfate biosynthetic process, O-glycan processing, ganglioside biosynthetic process via lactosylceramide, protein glycosylation, 2622 2226 4812 1196 1530 1729 1239 1248 1485 ENSG00000158473 chr1 158179947 158184896 + CD1D protein_coding This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 912 GO:0016323, GO:0010008, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005789, GO:0005783, GO:0005765, GO:0005737, GO:0005615, basolateral plasma membrane, endosome membrane, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, lysosomal membrane, cytoplasm, extracellular space, GO:0071723, GO:0050839, GO:0042393, GO:0030884, GO:0030884, GO:0030883, GO:0030882, GO:0030881, GO:0005515, lipopeptide binding, cell adhesion molecule binding, histone binding, exogenous lipid antigen binding, exogenous lipid antigen binding, endogenous lipid antigen binding, lipid antigen binding, beta-2-microglobulin binding, protein binding, GO:0050776, GO:0048007, GO:0048006, GO:0048006, GO:0045089, GO:0045087, GO:0045058, GO:0042102, GO:0034113, GO:0016045, GO:0006955, GO:0001916, regulation of immune response, antigen processing and presentation, exogenous lipid antigen via MHC class Ib, antigen processing and presentation, endogenous lipid antigen via MHC class Ib, antigen processing and presentation, endogenous lipid antigen via MHC class Ib, positive regulation of innate immune response, innate immune response, T cell selection, positive regulation of T cell proliferation, heterotypic cell-cell adhesion, detection of bacterium, immune response, positive regulation of T cell mediated cytotoxicity, 51 83 190 31 67 88 18 39 80 ENSG00000158477 chr1 158254137 158258269 + CD1A protein_coding This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 909 GO:0045121, GO:0010008, GO:0009897, GO:0005887, GO:0005886, GO:0005615, membrane raft, endosome membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, GO:0071723, GO:0030884, GO:0030883, GO:0005515, lipopeptide binding, exogenous lipid antigen binding, endogenous lipid antigen binding, protein binding, GO:0050776, GO:0048007, GO:0048006, GO:0006955, GO:0006955, GO:0002250, GO:0001916, regulation of immune response, antigen processing and presentation, exogenous lipid antigen via MHC class Ib, antigen processing and presentation, endogenous lipid antigen via MHC class Ib, immune response, immune response, adaptive immune response, positive regulation of T cell mediated cytotoxicity, 0 1 1 0 0 5 0 0 0 ENSG00000158480 chr20 49903391 49915508 - SPATA2 protein_coding 9825 GO:0005737, GO:0005737, GO:0005654, GO:0001650, cytoplasm, cytoplasm, nucleoplasm, fibrillar center, GO:1990381, GO:0044877, GO:0030159, GO:0005515, ubiquitin-specific protease binding, protein-containing complex binding, signaling receptor complex adaptor activity, protein binding, GO:1990108, GO:1990108, GO:0072520, GO:0070536, GO:0070536, GO:0060544, GO:0060544, GO:0050727, GO:0012501, GO:0010803, GO:0010803, GO:0007283, protein linear deubiquitination, protein linear deubiquitination, seminiferous tubule development, protein K63-linked deubiquitination, protein K63-linked deubiquitination, regulation of necroptotic process, regulation of necroptotic process, regulation of inflammatory response, programmed cell death, regulation of tumor necrosis factor-mediated signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, spermatogenesis, 361 379 483 363 359 608 272 293 553 ENSG00000158481 chr1 158289786 158293630 + CD1C protein_coding This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008]. 911 GO:0010008, GO:0009897, GO:0005887, GO:0005886, GO:0005764, GO:0005615, endosome membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, lysosome, extracellular space, GO:0071723, GO:0071723, GO:0051861, GO:0030884, GO:0030884, GO:0030883, GO:0030883, GO:0005515, lipopeptide binding, lipopeptide binding, glycolipid binding, exogenous lipid antigen binding, exogenous lipid antigen binding, endogenous lipid antigen binding, endogenous lipid antigen binding, protein binding, GO:0050776, GO:0048007, GO:0048006, GO:0006955, GO:0002286, GO:0002250, GO:0001916, regulation of immune response, antigen processing and presentation, exogenous lipid antigen via MHC class Ib, antigen processing and presentation, endogenous lipid antigen via MHC class Ib, immune response, T cell activation involved in immune response, adaptive immune response, positive regulation of T cell mediated cytotoxicity, 2 4 1 13 4 18 11 12 11 ENSG00000158482 chr16 21376648 21386064 + SNX29P1 unprocessed_pseudogene 0 3 0 0 0 2 0 0 0 ENSG00000158483 chr11 71787510 71801236 + FAM86C1 protein_coding 55199 GO:0032991, protein-containing complex, GO:0018064, GO:0005515, protein-histidine N-methyltransferase activity, protein binding, GO:0042038, peptidyl-histidine methylation, to form tele-methylhistidine, 0 0 6 11 1 4 2 3 4 ENSG00000158485 chr1 158327951 158331531 - CD1B protein_coding This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008]. 910 GO:0016021, GO:0010008, GO:0009986, GO:0009897, GO:0005886, GO:0005765, GO:0005615, integral component of membrane, endosome membrane, cell surface, external side of plasma membrane, plasma membrane, lysosomal membrane, extracellular space, GO:0071723, GO:0030884, GO:0030883, GO:0005515, lipopeptide binding, exogenous lipid antigen binding, endogenous lipid antigen binding, protein binding, GO:0050776, GO:0048007, GO:0048006, GO:0006955, GO:0002250, GO:0001916, regulation of immune response, antigen processing and presentation, exogenous lipid antigen via MHC class Ib, antigen processing and presentation, endogenous lipid antigen via MHC class Ib, immune response, adaptive immune response, positive regulation of T cell mediated cytotoxicity, 0 0 0 0 0 0 4 0 0 ENSG00000158486 chr16 20933111 21159441 - DNAH3 protein_coding This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]. 55567 GO:0030286, GO:0005874, GO:0005858, dynein complex, microtubule, axonemal dynein complex, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0003777, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, microtubule motor activity, GO:0060285, GO:0007018, cilium-dependent cell motility, microtubule-based movement, 0 0 1 2 2 0 1 1 0 ENSG00000158488 chr1 158353696 158357553 + CD1E protein_coding This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010]. 913 GO:0043202, GO:0009897, GO:0005887, GO:0005770, GO:0005769, GO:0005615, GO:0000139, lysosomal lumen, external side of plasma membrane, integral component of plasma membrane, late endosome, early endosome, extracellular space, Golgi membrane, GO:0071723, GO:0030884, GO:0030883, lipopeptide binding, exogenous lipid antigen binding, endogenous lipid antigen binding, GO:0048007, GO:0048006, GO:0006955, GO:0006955, GO:0002250, GO:0001916, antigen processing and presentation, exogenous lipid antigen via MHC class Ib, antigen processing and presentation, endogenous lipid antigen via MHC class Ib, immune response, immune response, adaptive immune response, positive regulation of T cell mediated cytotoxicity, 0 0 0 1 0 3 0 0 0 ENSG00000158497 chr5 143812161 143820719 + HMHB1 protein_coding This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq, Jul 2008]. 57824 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0071356, GO:0032729, GO:0032729, GO:0010468, GO:0002250, cellular response to tumor necrosis factor, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, regulation of gene expression, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000158516 chr7 130266827 130289798 + CPA2 protein_coding Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008]. 1358 GO:0005773, GO:0005615, GO:0005576, vacuole, extracellular space, extracellular region, GO:0008270, GO:0004181, GO:0004181, GO:0004180, zinc ion binding, metallocarboxypeptidase activity, metallocarboxypeptidase activity, carboxypeptidase activity, GO:0007039, GO:0006508, protein catabolic process in the vacuole, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000158517 chr7 74773962 74789315 + NCF1 protein_coding The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]. 653361 GO:0043025, GO:0043020, GO:0043020, GO:0032010, GO:0030425, GO:0019898, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005791, GO:0005737, neuronal cell body, NADPH oxidase complex, NADPH oxidase complex, phagolysosome, dendrite, extrinsic component of membrane, membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, rough endoplasmic reticulum, cytoplasm, GO:0043325, GO:0043325, GO:0035091, GO:0032266, GO:0017124, GO:0016176, GO:0016175, GO:0016175, GO:0009055, GO:0005515, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol binding, phosphatidylinositol-3-phosphate binding, SH3 domain binding, superoxide-generating NADPH oxidase activator activity, superoxide-generating NAD(P)H oxidase activity, superoxide-generating NAD(P)H oxidase activity, electron transfer activity, protein binding, GO:1900745, GO:0071276, GO:0071276, GO:0048010, GO:0046330, GO:0045893, GO:0045741, GO:0045730, GO:0045730, GO:0045454, GO:0045087, GO:0042554, GO:0042554, GO:0034614, GO:0034599, GO:0022900, GO:0014068, GO:0006968, GO:0006915, GO:0006801, GO:0006801, GO:0006612, GO:0002479, positive regulation of p38MAPK cascade, cellular response to cadmium ion, cellular response to cadmium ion, vascular endothelial growth factor receptor signaling pathway, positive regulation of JNK cascade, positive regulation of transcription, DNA-templated, positive regulation of epidermal growth factor-activated receptor activity, respiratory burst, respiratory burst, cell redox homeostasis, innate immune response, superoxide anion generation, superoxide anion generation, cellular response to reactive oxygen species, cellular response to oxidative stress, electron transport chain, positive regulation of phosphatidylinositol 3-kinase signaling, cellular defense response, apoptotic process, superoxide metabolic process, superoxide metabolic process, protein targeting to membrane, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 5496 5669 10588 2753 5229 4916 3256 4176 4732 ENSG00000158525 chr7 130344816 130368730 + CPA5 protein_coding Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008]. 93979 GO:0005615, extracellular space, GO:0008270, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, GO:0006508, proteolysis, 0 0 0 3 0 0 0 0 0 ENSG00000158526 chrX 54440401 54445487 + TSR2 protein_coding The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]. 90121 GO:0005515, protein binding, GO:0000462, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 57 61 81 53 41 84 45 38 62 ENSG00000158528 chr7 94907202 95296415 + PPP1R9A protein_coding This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 55607 GO:1990761, GO:0098978, GO:0098871, GO:0044326, GO:0043025, GO:0031594, GO:0030864, GO:0030425, GO:0030175, GO:0015629, GO:0014069, GO:0005829, GO:0005737, growth cone lamellipodium, glutamatergic synapse, postsynaptic actin cytoskeleton, dendritic spine neck, neuronal cell body, neuromuscular junction, cortical actin cytoskeleton, dendrite, filopodium, actin cytoskeleton, postsynaptic density, cytosol, cytoplasm, GO:0051020, GO:0051015, GO:0044325, GO:0042802, GO:0019904, GO:0019901, GO:0008157, GO:0008022, GO:0005515, GTPase binding, actin filament binding, ion channel binding, identical protein binding, protein domain specific binding, protein kinase binding, protein phosphatase 1 binding, protein C-terminus binding, protein binding, GO:1904049, GO:1900454, GO:1900272, GO:0098974, GO:0097237, GO:0061001, GO:0060999, GO:0060079, GO:0051963, GO:0051823, GO:0051497, GO:0051489, GO:0045860, GO:0031175, GO:0030833, GO:0019722, GO:0007568, GO:0007015, negative regulation of spontaneous neurotransmitter secretion, positive regulation of long-term synaptic depression, negative regulation of long-term synaptic potentiation, postsynaptic actin cytoskeleton organization, cellular response to toxic substance, regulation of dendritic spine morphogenesis, positive regulation of dendritic spine development, excitatory postsynaptic potential, regulation of synapse assembly, regulation of synapse structural plasticity, negative regulation of stress fiber assembly, regulation of filopodium assembly, positive regulation of protein kinase activity, neuron projection development, regulation of actin filament polymerization, calcium-mediated signaling, aging, actin filament organization, 1 1 0 1 2 0 3 0 0 ENSG00000158545 chr16 88570381 88631966 + ZC3H18 protein_coding 124245 GO:0032991, GO:0016607, protein-containing complex, nuclear speck, GO:0046872, GO:0005515, GO:0003723, metal ion binding, protein binding, RNA binding, 991 1054 1437 644 830 957 689 618 792 ENSG00000158552 chr2 219195237 219209651 + ZFAND2B protein_coding This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. 130617 GO:0031225, GO:0005789, GO:0005783, GO:0000502, anchored component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, proteasome complex, GO:0043130, GO:0036435, GO:0008270, GO:0005515, ubiquitin binding, K48-linked polyubiquitin modification-dependent protein binding, zinc ion binding, protein binding, GO:0045047, GO:0043567, GO:0043161, GO:0006616, protein targeting to ER, regulation of insulin-like growth factor receptor signaling pathway, proteasome-mediated ubiquitin-dependent protein catabolic process, SRP-dependent cotranslational protein targeting to membrane, translocation, 502 460 535 368 443 397 433 379 317 ENSG00000158553 chr6 27285903 27312170 - POM121L2 protein_coding 94026 GO:0005643, nuclear pore, GO:0017056, GO:0008139, structural constituent of nuclear pore, nuclear localization sequence binding, GO:0006606, GO:0006405, protein import into nucleus, RNA export from nucleus, 0 0 0 0 0 0 0 1 0 ENSG00000158555 chr11 75434640 75525903 - GDPD5 protein_coding Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]. 81544 GO:0097038, GO:0043025, GO:0030426, GO:0016021, perinuclear endoplasmic reticulum, neuronal cell body, growth cone, integral component of membrane, GO:0047389, GO:0005515, GO:0004435, glycerophosphocholine phosphodiesterase activity, protein binding, phosphatidylinositol phospholipase C activity, GO:0048505, GO:0045787, GO:0045746, GO:0045666, GO:0031175, GO:0021895, GO:0021522, GO:0006629, regulation of timing of cell differentiation, positive regulation of cell cycle, negative regulation of Notch signaling pathway, positive regulation of neuron differentiation, neuron projection development, cerebral cortex neuron differentiation, spinal cord motor neuron differentiation, lipid metabolic process, 29 58 76 65 37 65 39 45 52 ENSG00000158560 chr7 95772506 96110322 + DYNC1I1 protein_coding 1780 GO:0055037, GO:0048471, GO:0036464, GO:0031982, GO:0005874, GO:0005868, GO:0005868, GO:0005829, GO:0005737, GO:0005634, GO:0000922, GO:0000777, GO:0000776, recycling endosome, perinuclear region of cytoplasm, cytoplasmic ribonucleoprotein granule, vesicle, microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, cytosol, cytoplasm, nucleus, spindle pole, condensed chromosome kinetochore, kinetochore, GO:0045504, GO:0045503, GO:0030507, GO:0008017, GO:0005515, GO:0003777, GO:0003774, dynein heavy chain binding, dynein light chain binding, spectrin binding, microtubule binding, protein binding, microtubule motor activity, motor activity, GO:0047496, GO:0047496, GO:0019886, GO:0010970, GO:0007018, GO:0006888, vesicle transport along microtubule, vesicle transport along microtubule, antigen processing and presentation of exogenous peptide antigen via MHC class II, transport along microtubule, microtubule-based movement, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 2 0 0 0 3 0 4 ENSG00000158571 chrX 54932961 54998534 - PFKFB1 protein_coding This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]. 5207 GO:0043540, GO:0043540, GO:0005829, GO:0005829, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex, cytosol, cytosol, GO:0070095, GO:0042802, GO:0019900, GO:0005524, GO:0005515, GO:0004331, GO:0004331, GO:0003873, GO:0003873, fructose-6-phosphate binding, identical protein binding, kinase binding, ATP binding, protein binding, fructose-2,6-bisphosphate 2-phosphatase activity, fructose-2,6-bisphosphate 2-phosphatase activity, 6-phosphofructo-2-kinase activity, 6-phosphofructo-2-kinase activity, GO:0051591, GO:0051384, GO:0046835, GO:0045821, GO:0045820, GO:0042594, GO:0033762, GO:0033133, GO:0032868, GO:0031100, GO:0016311, GO:0006096, GO:0006094, GO:0006003, GO:0006003, GO:0006000, response to cAMP, response to glucocorticoid, carbohydrate phosphorylation, positive regulation of glycolytic process, negative regulation of glycolytic process, response to starvation, response to glucagon, positive regulation of glucokinase activity, response to insulin, animal organ regeneration, dephosphorylation, glycolytic process, gluconeogenesis, fructose 2,6-bisphosphate metabolic process, fructose 2,6-bisphosphate metabolic process, fructose metabolic process, 0 1 1 0 0 0 6 0 5 ENSG00000158578 chrX 55009055 55031064 - ALAS2 protein_coding The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 212 GO:0005759, GO:0005743, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0030170, GO:0005515, GO:0003870, GO:0003870, pyridoxal phosphate binding, protein binding, 5-aminolevulinate synthase activity, 5-aminolevulinate synthase activity, GO:0048821, GO:0042541, GO:0042541, GO:0032364, GO:0030218, GO:0030218, GO:0006879, GO:0006783, GO:0006783, GO:0006783, GO:0006783, GO:0006782, GO:0001666, GO:0001666, erythrocyte development, hemoglobin biosynthetic process, hemoglobin biosynthetic process, oxygen homeostasis, erythrocyte differentiation, erythrocyte differentiation, cellular iron ion homeostasis, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, protoporphyrinogen IX biosynthetic process, response to hypoxia, response to hypoxia, 9 0 2 24 2 4 9 1 2 ENSG00000158604 chr7 44577894 44582287 - TMED4 protein_coding 222068 GO:0030134, GO:0016021, GO:0005794, GO:0005793, GO:0005789, GO:0005783, COPII-coated ER to Golgi transport vesicle, integral component of membrane, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0043123, GO:0007030, GO:0006888, GO:0006886, positive regulation of I-kappaB kinase/NF-kappaB signaling, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 411 456 527 359 378 425 352 379 365 ENSG00000158615 chr1 204403387 204411791 - PPP1R15B protein_coding This gene encodes a protein phosphatase I-interacting protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to regulate translation under conditions of cellular stress. The transcribed messenger RNA contains two upstream open reading frames (ORFs) that repress translation of the main protein coding ORF under normal conditions, while the protein coding ORF is expressed at high levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thought to create a feedback loop for reactivation of the gene during recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this gene are associated with microcephaly, short stature, and impaired glucose metabolism. [provided by RefSeq, Feb 2016]. 84919 GO:0005783, GO:0000164, GO:0000164, GO:0000164, endoplasmic reticulum, protein phosphatase type 1 complex, protein phosphatase type 1 complex, protein phosphatase type 1 complex, GO:0019888, GO:0005515, protein phosphatase regulator activity, protein binding, GO:1903912, GO:1903898, GO:0070262, GO:0042542, GO:0034976, GO:0032516, GO:0006983, GO:0001933, negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation, negative regulation of PERK-mediated unfolded protein response, peptidyl-serine dephosphorylation, response to hydrogen peroxide, response to endoplasmic reticulum stress, positive regulation of phosphoprotein phosphatase activity, ER overload response, negative regulation of protein phosphorylation, 5298 6666 8958 6972 10339 19075 11430 9720 17735 ENSG00000158623 chr7 130506238 130668748 - COPG2 protein_coding 26958 GO:0030426, GO:0030133, GO:0030126, GO:0030126, GO:0005829, GO:0005793, GO:0005789, GO:0005783, GO:0000139, GO:0000139, growth cone, transport vesicle, COPI vesicle coat, COPI vesicle coat, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0005198, structural molecule activity, GO:0072384, GO:0009306, GO:0006891, GO:0006891, GO:0006890, GO:0006888, GO:0006888, GO:0006886, organelle transport along microtubule, protein secretion, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 82 59 72 64 52 65 52 38 30 ENSG00000158636 chr11 76444923 76553025 + EMSY protein_coding 56946 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0006355, GO:0006325, GO:0006281, regulation of transcription, DNA-templated, chromatin organization, DNA repair, 613 653 606 415 607 592 604 447 443 ENSG00000158639 chrX 55220355 55224108 + PAGE5 protein_coding This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. The encoded protein may protect cells from programmed cell death. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jan 2015]. 90737 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000158669 chr8 41577187 41625001 + GPAT4 protein_coding Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]. 137964 GO:0016021, GO:0016020, GO:0016020, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0102420, GO:0004366, GO:0004366, GO:0003841, sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity, glycerol-3-phosphate O-acyltransferase activity, glycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0046339, GO:0040014, GO:0019432, GO:0019432, GO:0016024, GO:0008610, GO:0007595, GO:0006656, GO:0006654, GO:0006637, GO:0006631, GO:0002071, diacylglycerol metabolic process, regulation of multicellular organism growth, triglyceride biosynthetic process, triglyceride biosynthetic process, CDP-diacylglycerol biosynthetic process, lipid biosynthetic process, lactation, phosphatidylcholine biosynthetic process, phosphatidic acid biosynthetic process, acyl-CoA metabolic process, fatty acid metabolic process, glandular epithelial cell maturation, 317 246 686 212 136 317 222 107 314 ENSG00000158683 chr7 47740202 47948491 - PKD1L1 protein_coding This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]. 168507 GO:0097730, GO:0060170, GO:0034704, GO:0016020, GO:0016020, GO:0005929, non-motile cilium, ciliary membrane, calcium channel complex, membrane, membrane, cilium, GO:0005515, GO:0005262, GO:0005262, protein binding, calcium channel activity, calcium channel activity, GO:0098609, GO:0070986, GO:0070588, GO:0050982, GO:0003127, cell-cell adhesion, left/right axis specification, calcium ion transmembrane transport, detection of mechanical stimulus, detection of nodal flow, 4 4 4 2 0 6 3 0 6 ENSG00000158691 chr6 28378955 28399734 - ZSCAN12 protein_coding 9753 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 1 14 6 3 5 26 4 20 ENSG00000158710 chr1 159918107 159925732 - TAGLN2 protein_coding The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]. 8407 GO:0070062, GO:0031982, GO:0005829, GO:0005576, extracellular exosome, vesicle, cytosol, extracellular region, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0030855, GO:0002576, epithelial cell differentiation, platelet degranulation, 27898 28536 32789 6629 17129 11415 10435 18182 12021 ENSG00000158711 chr1 205597556 205631962 - ELK4 protein_coding This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]. 2005 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070932, GO:0045944, GO:0030154, GO:0006357, GO:0000122, histone H3 deacetylation, positive regulation of transcription by RNA polymerase II, cell differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 589 464 572 540 260 403 559 205 366 ENSG00000158714 chr1 159826750 159837249 + SLAMF8 protein_coding This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008]. 56833 GO:0016021, GO:0009986, integral component of membrane, cell surface, GO:0042802, GO:0038023, GO:0005515, identical protein binding, signaling receptor activity, protein binding, GO:2000509, GO:1902623, GO:0090383, GO:0090027, GO:0060266, GO:0045577, GO:0043549, GO:0042742, GO:0035690, GO:0033860, GO:0010760, GO:0002336, GO:0002232, negative regulation of dendritic cell chemotaxis, negative regulation of neutrophil migration, phagosome acidification, negative regulation of monocyte chemotaxis, negative regulation of respiratory burst involved in inflammatory response, regulation of B cell differentiation, regulation of kinase activity, defense response to bacterium, cellular response to drug, regulation of NAD(P)H oxidase activity, negative regulation of macrophage chemotaxis, B-1 B cell lineage commitment, leukocyte chemotaxis involved in inflammatory response, 6 6 8 15 20 23 10 14 22 ENSG00000158715 chr1 205657851 205680459 - SLC45A3 protein_coding 85414 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0051119, GO:0008506, GO:0008506, sugar transmembrane transporter activity, sucrose:proton symporter activity, sucrose:proton symporter activity, GO:0048713, GO:0045723, GO:0015770, GO:0010907, GO:0008645, regulation of oligodendrocyte differentiation, positive regulation of fatty acid biosynthetic process, sucrose transport, positive regulation of glucose metabolic process, hexose transmembrane transport, 4 4 2 13 13 13 8 13 3 ENSG00000158716 chr1 159780932 159782543 + DUSP23 protein_coding 54935 GO:0005829, GO:0005737, GO:0005654, cytosol, cytoplasm, nucleoplasm, GO:0106307, GO:0106306, GO:0016791, GO:0008138, GO:0005515, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, GO:0035335, GO:0016311, peptidyl-tyrosine dephosphorylation, dephosphorylation, 68 40 66 39 55 40 47 96 86 ENSG00000158717 chr16 88696495 88706421 - RNF166 protein_coding 115992 GO:0005737, cytoplasm, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0045087, GO:0006914, GO:0006511, GO:0000209, innate immune response, autophagy, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 2950 3530 4097 1961 3929 3108 2035 2869 2498 ENSG00000158731 chr1 159598298 159599227 + OR10J6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000158747 chr1 19596979 19658456 + NBL1 protein_coding This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants have been identified for this gene. Read-through transcripts between this locus and the upstream mitochondrial inner membrane organizing system 1 gene (GeneID 440574) have been observed. [provided by RefSeq, May 2013]. 4681 GO:0005615, GO:0005615, GO:0005615, extracellular space, extracellular space, extracellular space, GO:0048018, GO:0042802, GO:0036122, GO:0036122, GO:0016015, GO:0005515, receptor ligand activity, identical protein binding, BMP binding, BMP binding, morphogen activity, protein binding, GO:0090027, GO:0048812, GO:0048263, GO:0045666, GO:0038098, GO:0038098, GO:0035582, GO:0030514, GO:0030514, GO:0009887, GO:0007399, GO:0007165, negative regulation of monocyte chemotaxis, neuron projection morphogenesis, determination of dorsal identity, positive regulation of neuron differentiation, sequestering of BMP from receptor via BMP binding, sequestering of BMP from receptor via BMP binding, sequestering of BMP in extracellular matrix, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, animal organ morphogenesis, nervous system development, signal transduction, 3 0 3 1 0 7 9 3 0 ENSG00000158748 chr1 19665287 19679562 + HTR6 protein_coding This gene encodes a protein that belongs to the seven-transmembrane G protein-coupled receptor family of proteins. The encoded protein couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaling pathway. This receptor is thought to regulate cholinergic neuronal transmission in the brain. Several antidepressants and antipsychotic drugs have a high affinity for this receptor. [provided by RefSeq, Aug 2013]. 3362 GO:0045202, GO:0030425, GO:0005929, GO:0005887, GO:0005886, synapse, dendrite, cilium, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0005515, GO:0004993, GO:0004969, neurotransmitter receptor activity, protein binding, G protein-coupled serotonin receptor activity, histamine receptor activity, GO:0098664, GO:0032008, GO:0021795, GO:0007268, GO:0007187, GO:0007186, G protein-coupled serotonin receptor signaling pathway, positive regulation of TOR signaling, cerebral cortex cell migration, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 2 0 0 0 0 0 ENSG00000158764 chr1 160945025 160954799 - ITLN2 protein_coding 142683 GO:0005576, extracellular region, GO:0046872, GO:0030246, metal ion binding, carbohydrate binding, 0 0 0 5 2 0 1 8 3 ENSG00000158769 chr1 160995211 161021348 - F11R protein_coding Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]. 50848 GO:0070160, GO:0070062, GO:0036057, GO:0032991, GO:0031410, GO:0030054, GO:0016021, GO:0005923, GO:0005923, GO:0005911, GO:0005886, GO:0005886, tight junction, extracellular exosome, slit diaphragm, protein-containing complex, cytoplasmic vesicle, cell junction, integral component of membrane, bicellular tight junction, bicellular tight junction, cell-cell junction, plasma membrane, plasma membrane, GO:0045296, GO:0042803, GO:0030165, GO:0005515, GO:0005178, GO:0001618, cadherin binding, protein homodimerization activity, PDZ domain binding, protein binding, integrin binding, virus receptor activity, GO:2000810, GO:2000249, GO:1903142, GO:1902396, GO:1901731, GO:0098609, GO:0090559, GO:0090559, GO:0090557, GO:0090557, GO:0090557, GO:0072659, GO:0071260, GO:0070830, GO:0051497, GO:0051493, GO:0050900, GO:0050892, GO:0050892, GO:0046718, GO:0045777, GO:0043547, GO:0035683, GO:0035633, GO:0035025, GO:0034260, GO:0032956, GO:0031032, GO:0030198, GO:0009314, GO:0008360, GO:0007179, GO:0007159, GO:0006954, GO:0001817, regulation of bicellular tight junction assembly, regulation of actin cytoskeleton reorganization, positive regulation of establishment of endothelial barrier, protein localization to bicellular tight junction, positive regulation of platelet aggregation, cell-cell adhesion, regulation of membrane permeability, regulation of membrane permeability, establishment of endothelial intestinal barrier, establishment of endothelial intestinal barrier, establishment of endothelial intestinal barrier, protein localization to plasma membrane, cellular response to mechanical stimulus, bicellular tight junction assembly, negative regulation of stress fiber assembly, regulation of cytoskeleton organization, leukocyte migration, intestinal absorption, intestinal absorption, viral entry into host cell, positive regulation of blood pressure, positive regulation of GTPase activity, memory T cell extravasation, maintenance of blood-brain barrier, positive regulation of Rho protein signal transduction, negative regulation of GTPase activity, regulation of actin cytoskeleton organization, actomyosin structure organization, extracellular matrix organization, response to radiation, regulation of cell shape, transforming growth factor beta receptor signaling pathway, leukocyte cell-cell adhesion, inflammatory response, regulation of cytokine production, 1526 1498 1755 333 923 556 517 843 548 ENSG00000158773 chr1 161039251 161045977 - USF1 protein_coding This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]. 7391 GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0046982, GO:0044877, GO:0043565, GO:0043425, GO:0042826, GO:0042803, GO:0042802, GO:0019901, GO:0019899, GO:0005515, GO:0000981, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein heterodimerization activity, protein-containing complex binding, sequence-specific DNA binding, bHLH transcription factor binding, histone deacetylase binding, protein homodimerization activity, identical protein binding, protein kinase binding, enzyme binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0055088, GO:0051918, GO:0045990, GO:0045944, GO:0042593, GO:0032869, GO:0019086, GO:0009411, GO:0006357, GO:0006357, GO:0006006, GO:0001666, GO:0000432, GO:0000432, GO:0000430, lipid homeostasis, negative regulation of fibrinolysis, carbon catabolite regulation of transcription, positive regulation of transcription by RNA polymerase II, glucose homeostasis, cellular response to insulin stimulus, late viral transcription, response to UV, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, glucose metabolic process, response to hypoxia, positive regulation of transcription from RNA polymerase II promoter by glucose, positive regulation of transcription from RNA polymerase II promoter by glucose, regulation of transcription from RNA polymerase II promoter by glucose, 1541 1562 1828 886 1574 1262 996 1095 1061 ENSG00000158786 chr1 20139326 20150386 + PLA2G2F protein_coding 64600 GO:0005886, GO:0005829, GO:0005576, GO:0005576, plasma membrane, cytosol, extracellular region, extracellular region, GO:0102568, GO:0102567, GO:0047498, GO:0047498, GO:0005543, GO:0005509, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, phospholipid binding, calcium ion binding, phospholipase A2 activity, GO:0050482, GO:0045087, GO:0042130, GO:0036152, GO:0036152, GO:0036151, GO:0036151, GO:0036150, GO:0036150, GO:0036149, GO:0036148, GO:0036148, GO:0016042, GO:0008150, GO:0006654, GO:0006644, arachidonic acid secretion, innate immune response, negative regulation of T cell proliferation, phosphatidylethanolamine acyl-chain remodeling, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, lipid catabolic process, biological_process, phosphatidic acid biosynthetic process, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000158792 chr16 89696343 89701705 - SPATA2L protein_coding 124044 GO:0005737, cytoplasm, GO:0005515, protein binding, 1058 971 1132 270 405 407 435 353 390 ENSG00000158793 chr1 161118086 161125445 + NIT1 protein_coding This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 4817 GO:0005739, GO:0005634, mitochondrion, nucleus, GO:0016811, GO:0000257, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides, nitrilase activity, GO:0008150, GO:0006807, biological_process, nitrogen compound metabolic process, 483 473 553 267 378 298 348 302 273 ENSG00000158796 chr1 161120974 161132688 - DEDD protein_coding This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 9191 GO:0005737, GO:0005730, GO:0005730, cytoplasm, nucleolus, nucleolus, GO:0005515, GO:0003677, GO:0003677, protein binding, DNA binding, DNA binding, GO:0042981, GO:0008625, GO:0007283, regulation of apoptotic process, extrinsic apoptotic signaling pathway via death domain receptors, spermatogenesis, 654 529 699 478 637 543 573 481 485 ENSG00000158805 chr16 89720400 89740903 + ZNF276 protein_coding 92822 GO:0005694, GO:0005634, GO:0000777, GO:0000776, GO:0000776, chromosome, nucleus, condensed chromosome kinetochore, kinetochore, kinetochore, GO:1990837, GO:0043035, GO:0008270, GO:0005515, sequence-specific double-stranded DNA binding, chromatin insulator sequence binding, zinc ion binding, protein binding, GO:0006357, regulation of transcription by RNA polymerase II, 2893 2291 3686 1493 1742 2227 1767 1468 2014 ENSG00000158806 chr8 22024125 22036897 + NPM2 protein_coding 10361 GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleolus, nucleoplasm, nucleus, chromatin, GO:0042802, GO:0042393, GO:0042393, GO:0019899, GO:0005515, GO:0003723, GO:0003682, identical protein binding, histone binding, histone binding, enzyme binding, protein binding, RNA binding, chromatin binding, GO:0051054, GO:0045836, GO:0045740, GO:0043085, GO:0009994, GO:0007338, GO:0007096, GO:0006338, GO:0006338, GO:0001824, positive regulation of DNA metabolic process, positive regulation of meiotic nuclear division, positive regulation of DNA replication, positive regulation of catalytic activity, oocyte differentiation, single fertilization, regulation of exit from mitosis, chromatin remodeling, chromatin remodeling, blastocyst development, 0 0 1 2 0 3 0 0 0 ENSG00000158813 chrX 69616067 70039469 + EDA protein_coding The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1896 GO:0045177, GO:0043231, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005856, GO:0005811, GO:0005789, GO:0005581, GO:0005576, apical part of cell, intracellular membrane-bounded organelle, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoskeleton, lipid droplet, endoplasmic reticulum membrane, collagen trimer, extracellular region, GO:0038177, GO:0005515, GO:0005164, GO:0005123, GO:0005102, GO:0005102, death receptor agonist activity, protein binding, tumor necrosis factor receptor binding, death receptor binding, signaling receptor binding, signaling receptor binding, GO:1901224, GO:0090263, GO:0061153, GO:0060789, GO:0060662, GO:0051092, GO:0051092, GO:0043473, GO:0043123, GO:0042475, GO:0042475, GO:0033209, GO:0030154, GO:0010628, GO:0010467, GO:0007160, GO:0006955, positive regulation of NIK/NF-kappaB signaling, positive regulation of canonical Wnt signaling pathway, trachea gland development, hair follicle placode formation, salivary gland cavitation, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, pigmentation, positive regulation of I-kappaB kinase/NF-kappaB signaling, odontogenesis of dentin-containing tooth, odontogenesis of dentin-containing tooth, tumor necrosis factor-mediated signaling pathway, cell differentiation, positive regulation of gene expression, gene expression, cell-matrix adhesion, immune response, 1 0 3 3 3 6 7 0 4 ENSG00000158815 chr8 22042398 22048809 + FGF17 protein_coding This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 8822 GO:0005737, GO:0005615, GO:0005576, GO:0005576, cytoplasm, extracellular space, extracellular region, extracellular region, GO:0008083, GO:0005515, GO:0005111, GO:0005111, GO:0005105, GO:0005105, GO:0005104, growth factor activity, protein binding, type 2 fibroblast growth factor receptor binding, type 2 fibroblast growth factor receptor binding, type 1 fibroblast growth factor receptor binding, type 1 fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:0051897, GO:0030334, GO:0030154, GO:0010628, GO:0009887, GO:0008543, GO:0008543, GO:0008284, GO:0007399, GO:0007267, GO:0007165, GO:0001934, GO:0000165, positive regulation of protein kinase B signaling, regulation of cell migration, cell differentiation, positive regulation of gene expression, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, nervous system development, cell-cell signaling, signal transduction, positive regulation of protein phosphorylation, MAPK cascade, 0 0 0 1 2 0 2 1 0 ENSG00000158816 chr1 20290919 20354894 + VWA5B1 protein_coding 127731 GO:0005576, extracellular region, 0 0 0 0 0 2 0 0 0 ENSG00000158825 chr1 20588948 20618908 + CDA protein_coding This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008]. 978 GO:1904813, GO:1904724, GO:0034774, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, secretory granule lumen, cytosol, cytosol, cytosol, cytosol, extracellular region, GO:0042803, GO:0042802, GO:0008270, GO:0008270, GO:0005515, GO:0004126, GO:0004126, GO:0001882, protein homodimerization activity, identical protein binding, zinc ion binding, zinc ion binding, protein binding, cytidine deaminase activity, cytidine deaminase activity, nucleoside binding, GO:0045980, GO:0043312, GO:0043097, GO:0030308, GO:0019858, GO:0009972, GO:0009972, GO:0008655, GO:0007166, negative regulation of nucleotide metabolic process, neutrophil degranulation, pyrimidine nucleoside salvage, negative regulation of cell growth, cytosine metabolic process, cytidine deamination, cytidine deamination, pyrimidine-containing compound salvage, cell surface receptor signaling pathway, 1115 1042 1333 391 964 685 594 900 691 ENSG00000158828 chr1 20633455 20651511 + PINK1 protein_coding This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]. 65018 GO:0097449, GO:0097413, GO:0048471, GO:0044297, GO:0031307, GO:0030426, GO:0030424, GO:0016020, GO:0005856, GO:0005829, GO:0005829, GO:0005783, GO:0005758, GO:0005758, GO:0005743, GO:0005741, GO:0005741, GO:0005741, GO:0005739, GO:0005739, GO:0005739, GO:0005739, GO:0005737, GO:0005634, GO:0000785, astrocyte projection, Lewy body, perinuclear region of cytoplasm, cell body, integral component of mitochondrial outer membrane, growth cone, axon, membrane, cytoskeleton, cytosol, cytosol, endoplasmic reticulum, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, mitochondrion, mitochondrion, cytoplasm, nucleus, chromatin, GO:1904841, GO:0106311, GO:0106310, GO:0055131, GO:0044877, GO:0043422, GO:0031625, GO:0016504, GO:0016301, GO:0016301, GO:0010857, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0004672, GO:0002020, GO:0002020, GO:0000287, TORC2 complex binding, protein threonine kinase activity, protein serine kinase activity, C3HC4-type RING finger domain binding, protein-containing complex binding, protein kinase B binding, ubiquitin protein ligase binding, peptidase activator activity, kinase activity, kinase activity, calcium-dependent protein kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, protease binding, protease binding, magnesium ion binding, GO:2001243, GO:2001171, GO:2000378, GO:2000377, GO:2000377, GO:1904881, GO:1904783, GO:1904544, GO:1903955, GO:1903852, GO:1903751, GO:1903384, GO:1903384, GO:1903298, GO:1903214, GO:1903214, GO:1903214, GO:1903204, GO:1903202, GO:1903147, GO:1903146, GO:1902958, GO:1902902, GO:1902803, GO:1901727, GO:1900407, GO:0099074, GO:0098779, GO:0097237, GO:0090258, GO:0090200, GO:0090141, GO:0072656, GO:0072655, GO:0071456, GO:0061136, GO:0051897, GO:0051881, GO:0051881, GO:0051443, GO:0051091, GO:0050821, GO:0046329, GO:0045727, GO:0043524, GO:0043254, GO:0043123, GO:0042981, GO:0038203, GO:0036289, GO:0036289, GO:0035556, GO:0035307, GO:0034599, GO:0033603, GO:0033138, GO:0033138, GO:0033138, GO:0032226, GO:0032148, GO:0031398, GO:0031396, GO:0031396, GO:0022904, GO:0018105, GO:0018105, GO:0018105, GO:0016567, GO:0016242, GO:0016239, GO:0016236, GO:0010952, GO:0010821, GO:0010629, GO:0010310, GO:0007005, GO:0006979, GO:0006511, GO:0006468, GO:0006468, GO:0006468, GO:0006468, GO:0002931, GO:0002082, GO:0001934, GO:0000422, GO:0000422, negative regulation of intrinsic apoptotic signaling pathway, positive regulation of ATP biosynthetic process, negative regulation of reactive oxygen species metabolic process, regulation of reactive oxygen species metabolic process, regulation of reactive oxygen species metabolic process, cellular response to hydrogen sulfide, positive regulation of NMDA glutamate receptor activity, positive regulation of free ubiquitin chain polymerization, positive regulation of protein targeting to mitochondrion, positive regulation of cristae formation, negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide, negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway, negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway, negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway, regulation of protein targeting to mitochondrion, regulation of protein targeting to mitochondrion, regulation of protein targeting to mitochondrion, negative regulation of oxidative stress-induced neuron death, negative regulation of oxidative stress-induced cell death, negative regulation of autophagy of mitochondrion, regulation of autophagy of mitochondrion, positive regulation of mitochondrial electron transport, NADH to ubiquinone, negative regulation of autophagosome assembly, regulation of synaptic vesicle transport, positive regulation of histone deacetylase activity, regulation of cellular response to oxidative stress, mitochondrion to lysosome transport, positive regulation of mitophagy in response to mitochondrial depolarization, cellular response to toxic substance, negative regulation of mitochondrial fission, positive regulation of release of cytochrome c from mitochondria, positive regulation of mitochondrial fission, maintenance of protein location in mitochondrion, establishment of protein localization to mitochondrion, cellular response to hypoxia, regulation of proteasomal protein catabolic process, positive regulation of protein kinase B signaling, regulation of mitochondrial membrane potential, regulation of mitochondrial membrane potential, positive regulation of ubiquitin-protein transferase activity, positive regulation of DNA-binding transcription factor activity, protein stabilization, negative regulation of JNK cascade, positive regulation of translation, negative regulation of neuron apoptotic process, regulation of protein-containing complex assembly, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, TORC2 signaling, peptidyl-serine autophosphorylation, peptidyl-serine autophosphorylation, intracellular signal transduction, positive regulation of protein dephosphorylation, cellular response to oxidative stress, positive regulation of dopamine secretion, positive regulation of peptidyl-serine phosphorylation, positive regulation of peptidyl-serine phosphorylation, positive regulation of peptidyl-serine phosphorylation, positive regulation of synaptic transmission, dopaminergic, activation of protein kinase B activity, positive regulation of protein ubiquitination, regulation of protein ubiquitination, regulation of protein ubiquitination, respiratory electron transport chain, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, protein ubiquitination, negative regulation of macroautophagy, positive regulation of macroautophagy, macroautophagy, positive regulation of peptidase activity, regulation of mitochondrion organization, negative regulation of gene expression, regulation of hydrogen peroxide metabolic process, mitochondrion organization, response to oxidative stress, ubiquitin-dependent protein catabolic process, protein phosphorylation, protein phosphorylation, protein phosphorylation, protein phosphorylation, response to ischemia, regulation of oxidative phosphorylation, positive regulation of protein phosphorylation, autophagy of mitochondrion, autophagy of mitochondrion, 759 777 801 264 710 454 448 644 458 ENSG00000158850 chr1 161171310 161177968 - B4GALT3 protein_coding This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]. 8703 GO:0070062, GO:0032580, GO:0016021, GO:0005829, GO:0005794, GO:0000139, extracellular exosome, Golgi cisterna membrane, integral component of membrane, cytosol, Golgi apparatus, Golgi membrane, GO:0046872, GO:0008378, GO:0003945, GO:0003831, metal ion binding, galactosyltransferase activity, N-acetyllactosamine synthase activity, beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity, GO:0018146, GO:0006682, GO:0006486, GO:0005975, keratan sulfate biosynthetic process, galactosylceramide biosynthetic process, protein glycosylation, carbohydrate metabolic process, 199 191 250 230 193 213 176 180 189 ENSG00000158856 chr8 22048995 22082527 + DMTN protein_coding The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]. 2039 GO:0048471, GO:0031410, GO:0031253, GO:0031095, GO:0030863, GO:0015629, GO:0015629, GO:0014731, GO:0014069, GO:0012505, GO:0005886, GO:0005886, GO:0005884, GO:0005829, GO:0005829, perinuclear region of cytoplasm, cytoplasmic vesicle, cell projection membrane, platelet dense tubular network membrane, cortical cytoskeleton, actin cytoskeleton, actin cytoskeleton, spectrin-associated cytoskeleton, postsynaptic density, endomembrane system, plasma membrane, plasma membrane, actin filament, cytosol, cytosol, GO:0051015, GO:0043621, GO:0030507, GO:0005515, GO:0005102, GO:0003779, actin filament binding, protein self-association, spectrin binding, protein binding, signaling receptor binding, actin binding, GO:2001046, GO:1901731, GO:1900026, GO:1900025, GO:0090527, GO:0090315, GO:0090303, GO:0071320, GO:0071277, GO:0070560, GO:0065003, GO:0065003, GO:0055085, GO:0051895, GO:0051693, GO:0051489, GO:0051017, GO:0051017, GO:0050732, GO:0048821, GO:0035585, GO:0035585, GO:0035584, GO:0033137, GO:0032956, GO:0030194, GO:0030036, GO:0030032, GO:0010812, GO:0010801, GO:0010763, GO:0010591, GO:0008360, GO:0007010, positive regulation of integrin-mediated signaling pathway, positive regulation of platelet aggregation, positive regulation of substrate adhesion-dependent cell spreading, negative regulation of substrate adhesion-dependent cell spreading, actin filament reorganization, negative regulation of protein targeting to membrane, positive regulation of wound healing, cellular response to cAMP, cellular response to calcium ion, protein secretion by platelet, protein-containing complex assembly, protein-containing complex assembly, transmembrane transport, negative regulation of focal adhesion assembly, actin filament capping, regulation of filopodium assembly, actin filament bundle assembly, actin filament bundle assembly, negative regulation of peptidyl-tyrosine phosphorylation, erythrocyte development, calcium-mediated signaling using extracellular calcium source, calcium-mediated signaling using extracellular calcium source, calcium-mediated signaling using intracellular calcium source, negative regulation of peptidyl-serine phosphorylation, regulation of actin cytoskeleton organization, positive regulation of blood coagulation, actin cytoskeleton organization, lamellipodium assembly, negative regulation of cell-substrate adhesion, negative regulation of peptidyl-threonine phosphorylation, positive regulation of fibroblast migration, regulation of lamellipodium assembly, regulation of cell shape, cytoskeleton organization, 19 7 23 48 20 55 21 5 40 ENSG00000158859 chr1 161184308 161199056 - ADAMTS4 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 9507 GO:0062023, GO:0031012, GO:0016607, GO:0005615, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, nuclear speck, extracellular space, extracellular region, GO:0046872, GO:0008237, GO:0008233, GO:0005515, GO:0004222, GO:0002020, metal ion binding, metallopeptidase activity, peptidase activity, protein binding, metalloendopeptidase activity, protease binding, GO:0030198, GO:0022617, GO:0006508, GO:0001501, extracellular matrix organization, extracellular matrix disassembly, proteolysis, skeletal system development, 0 2 2 9 7 0 3 7 1 ENSG00000158863 chr8 22089159 22104898 + FAM160B2 protein_coding 64760 78 98 156 99 81 111 87 103 129 ENSG00000158864 chr1 161197104 161214395 + NDUFS2 protein_coding The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 4720 GO:0005759, GO:0005747, GO:0005747, GO:0005747, GO:0005747, GO:0005739, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrion, mitochondrion, nucleoplasm, GO:0051539, GO:0051287, GO:0048038, GO:0046872, GO:0031625, GO:0009055, GO:0008137, GO:0008137, GO:0005515, GO:0003954, 4 iron, 4 sulfur cluster binding, NAD binding, quinone binding, metal ion binding, ubiquitin protein ligase binding, electron transfer activity, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, protein binding, NADH dehydrogenase activity, GO:0042775, GO:0032981, GO:0006979, GO:0006120, GO:0006120, GO:0006120, mitochondrial ATP synthesis coupled electron transport, mitochondrial respiratory chain complex I assembly, response to oxidative stress, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 342 325 351 281 344 321 298 270 254 ENSG00000158865 chr16 24845841 24911628 + SLC5A11 protein_coding Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]. 115584 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0015166, GO:0005515, GO:0005412, polyol transmembrane transporter activity, protein binding, glucose:sodium symporter activity, GO:1904659, GO:0015798, GO:0006915, GO:0006814, glucose transmembrane transport, myo-inositol transport, apoptotic process, sodium ion transport, 1 0 1 0 0 14 2 0 0 ENSG00000158869 chr1 161215234 161220699 + FCER1G protein_coding The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008]. 2207 GO:0101003, GO:0070821, GO:0032998, GO:0009986, GO:0009897, GO:0005887, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, Fc-epsilon receptor I complex, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0019864, GO:0019767, GO:0005515, identical protein binding, IgG binding, IgE receptor activity, protein binding, GO:2000010, GO:0072659, GO:0071404, GO:0050900, GO:0050766, GO:0045576, GO:0045087, GO:0043312, GO:0043306, GO:0042742, GO:0042590, GO:0038156, GO:0038095, GO:0038095, GO:0038094, GO:0033026, GO:0032765, GO:0032760, GO:0032755, GO:0032753, GO:0032733, GO:0032623, GO:0031623, GO:0030593, GO:0030316, GO:0030168, GO:0019886, GO:0016064, GO:0010543, GO:0007596, GO:0007229, GO:0006911, GO:0002554, GO:0002431, GO:0002292, GO:0002283, GO:0002223, GO:0001812, GO:0001805, GO:0001798, positive regulation of protein localization to cell surface, protein localization to plasma membrane, cellular response to low-density lipoprotein particle stimulus, leukocyte migration, positive regulation of phagocytosis, mast cell activation, innate immune response, neutrophil degranulation, positive regulation of mast cell degranulation, defense response to bacterium, antigen processing and presentation of exogenous peptide antigen via MHC class I, interleukin-3-mediated signaling pathway, Fc-epsilon receptor signaling pathway, Fc-epsilon receptor signaling pathway, Fc-gamma receptor signaling pathway, negative regulation of mast cell apoptotic process, positive regulation of mast cell cytokine production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-4 production, positive regulation of interleukin-10 production, interleukin-2 production, receptor internalization, neutrophil chemotaxis, osteoclast differentiation, platelet activation, antigen processing and presentation of exogenous peptide antigen via MHC class II, immunoglobulin mediated immune response, regulation of platelet activation, blood coagulation, integrin-mediated signaling pathway, phagocytosis, engulfment, serotonin secretion by platelet, Fc receptor mediated stimulatory signaling pathway, T cell differentiation involved in immune response, neutrophil activation involved in immune response, stimulatory C-type lectin receptor signaling pathway, positive regulation of type I hypersensitivity, positive regulation of type III hypersensitivity, positive regulation of type IIa hypersensitivity, 2376 2307 2887 857 2367 1414 1218 2070 1445 ENSG00000158874 chr1 161222292 161223631 - APOA2 protein_coding This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]. 336 GO:0072562, GO:0070062, GO:0042627, GO:0042627, GO:0034366, GO:0034366, GO:0034364, GO:0034364, GO:0034361, GO:0034361, GO:0005829, GO:0005788, GO:0005769, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, chylomicron, chylomicron, spherical high-density lipoprotein particle, spherical high-density lipoprotein particle, high-density lipoprotein particle, high-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, cytosol, endoplasmic reticulum lumen, early endosome, extracellular region, extracellular region, GO:0120020, GO:0070653, GO:0070653, GO:0060228, GO:0055102, GO:0055102, GO:0046982, GO:0042803, GO:0034190, GO:0034190, GO:0031210, GO:0031210, GO:0031072, GO:0015485, GO:0015485, GO:0008289, GO:0008035, GO:0005543, GO:0005515, GO:0005319, GO:0005102, cholesterol transfer activity, high-density lipoprotein particle receptor binding, high-density lipoprotein particle receptor binding, phosphatidylcholine-sterol O-acyltransferase activator activity, lipase inhibitor activity, lipase inhibitor activity, protein heterodimerization activity, protein homodimerization activity, apolipoprotein receptor binding, apolipoprotein receptor binding, phosphatidylcholine binding, phosphatidylcholine binding, heat shock protein binding, cholesterol binding, cholesterol binding, lipid binding, high-density lipoprotein particle binding, phospholipid binding, protein binding, lipid transporter activity, signaling receptor binding, GO:0120009, GO:0060695, GO:0060621, GO:0060192, GO:0060192, GO:0051384, GO:0050996, GO:0050995, GO:0050821, GO:0050766, GO:0046340, GO:0044267, GO:0043691, GO:0043687, GO:0043627, GO:0043085, GO:0042632, GO:0042632, GO:0042493, GO:0042157, GO:0034384, GO:0034380, GO:0034380, GO:0034378, GO:0034375, GO:0034375, GO:0034374, GO:0034374, GO:0034371, GO:0034370, GO:0034370, GO:0033700, GO:0033344, GO:0032757, GO:0032375, GO:0031647, GO:0031100, GO:0030301, GO:0030300, GO:0019216, GO:0018206, GO:0018158, GO:0016032, GO:0010903, GO:0010873, GO:0009749, GO:0009395, GO:0008203, GO:0006656, GO:0006641, GO:0002719, GO:0002526, GO:0001523, intermembrane lipid transfer, negative regulation of cholesterol transporter activity, negative regulation of cholesterol import, negative regulation of lipase activity, negative regulation of lipase activity, response to glucocorticoid, positive regulation of lipid catabolic process, negative regulation of lipid catabolic process, protein stabilization, positive regulation of phagocytosis, diacylglycerol catabolic process, cellular protein metabolic process, reverse cholesterol transport, post-translational protein modification, response to estrogen, positive regulation of catalytic activity, cholesterol homeostasis, cholesterol homeostasis, response to drug, lipoprotein metabolic process, high-density lipoprotein particle clearance, high-density lipoprotein particle assembly, high-density lipoprotein particle assembly, chylomicron assembly, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, chylomicron remodeling, triglyceride-rich lipoprotein particle remodeling, triglyceride-rich lipoprotein particle remodeling, phospholipid efflux, cholesterol efflux, positive regulation of interleukin-8 production, negative regulation of cholesterol transport, regulation of protein stability, animal organ regeneration, cholesterol transport, regulation of intestinal cholesterol absorption, regulation of lipid metabolic process, peptidyl-methionine modification, protein oxidation, viral process, negative regulation of very-low-density lipoprotein particle remodeling, positive regulation of cholesterol esterification, response to glucose, phospholipid catabolic process, cholesterol metabolic process, phosphatidylcholine biosynthetic process, triglyceride metabolic process, negative regulation of cytokine production involved in immune response, acute inflammatory response, retinoid metabolic process, 21 18 47 12 7 21 16 6 32 ENSG00000158882 chr1 161225939 161230744 + TOMM40L protein_coding 84134 GO:0046930, GO:0032991, GO:0005742, pore complex, protein-containing complex, mitochondrial outer membrane translocase complex, GO:0070678, GO:0030943, GO:0015288, GO:0008320, GO:0003674, preprotein binding, mitochondrion targeting sequence binding, porin activity, protein transmembrane transporter activity, molecular_function, GO:0030150, GO:0008150, GO:0006811, protein import into mitochondrial matrix, biological_process, ion transport, 105 124 149 109 170 220 172 86 224 ENSG00000158887 chr1 161304735 161309972 - MPZ protein_coding This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]. 4359 GO:0045202, GO:0043209, GO:0016323, GO:0005887, GO:0005886, GO:0005791, GO:0005764, synapse, myelin sheath, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, rough endoplasmic reticulum, lysosome, GO:0005198, structural molecule activity, GO:0098743, GO:0098742, GO:0043066, GO:0042552, GO:0007268, cell aggregation, cell-cell adhesion via plasma-membrane adhesion molecules, negative regulation of apoptotic process, myelination, chemical synaptic transmission, 165 114 184 124 96 217 198 96 179 ENSG00000158901 chr20 45551153 45579326 - WFDC8 protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]. 90199 GO:0005576, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000158941 chr8 22604632 22621514 + CCAR2 protein_coding 57805 GO:0044609, GO:0044609, GO:0005759, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, DBIRD complex, DBIRD complex, mitochondrial matrix, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0030374, GO:0019899, GO:0005515, GO:0004857, GO:0004857, GO:0003723, GO:0000993, GO:0000993, nuclear receptor coactivator activity, enzyme binding, protein binding, enzyme inhibitor activity, enzyme inhibitor activity, RNA binding, RNA polymerase II complex binding, RNA polymerase II complex binding, GO:2000003, GO:1903508, GO:1902230, GO:1900034, GO:0090311, GO:0090263, GO:0048511, GO:0045892, GO:0045892, GO:0043653, GO:0043086, GO:0043065, GO:0042752, GO:0032784, GO:0032435, GO:0031647, GO:0030308, GO:0016055, GO:0009411, GO:0008380, GO:0008380, GO:0007049, GO:0006974, GO:0006397, GO:0006355, positive regulation of DNA damage checkpoint, positive regulation of nucleic acid-templated transcription, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, regulation of cellular response to heat, regulation of protein deacetylation, positive regulation of canonical Wnt signaling pathway, rhythmic process, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, mitochondrial fragmentation involved in apoptotic process, negative regulation of catalytic activity, positive regulation of apoptotic process, regulation of circadian rhythm, regulation of DNA-templated transcription, elongation, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of protein stability, negative regulation of cell growth, Wnt signaling pathway, response to UV, RNA splicing, RNA splicing, cell cycle, cellular response to DNA damage stimulus, mRNA processing, regulation of transcription, DNA-templated, 1501 1358 2246 1010 1089 1306 1077 954 994 ENSG00000158955 chr17 46833201 46886730 + WNT9B protein_coding The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 7484 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0048018, GO:0039706, GO:0005125, GO:0005109, receptor ligand activity, co-receptor binding, cytokine activity, frizzled binding, GO:1905438, GO:1904948, GO:1902455, GO:0072181, GO:0072174, GO:0072046, GO:0072044, GO:0072038, GO:0072003, GO:0071300, GO:0061303, GO:0061038, GO:0060071, GO:0060070, GO:0060070, GO:0060021, GO:0048701, GO:0045165, GO:0043085, GO:0035150, GO:0032526, GO:0030539, GO:0030182, GO:0030182, GO:0016055, GO:0009786, GO:0009267, GO:0007275, GO:0007267, GO:0003339, GO:0001932, GO:0001701, GO:0001658, non-canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, midbrain dopaminergic neuron differentiation, negative regulation of stem cell population maintenance, mesonephric duct formation, metanephric tubule formation, establishment of planar polarity involved in nephron morphogenesis, collecting duct development, mesenchymal stem cell maintenance involved in nephron morphogenesis, kidney rudiment formation, cellular response to retinoic acid, cornea development in camera-type eye, uterus morphogenesis, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, roof of mouth development, embryonic cranial skeleton morphogenesis, cell fate commitment, positive regulation of catalytic activity, regulation of tube size, response to retinoic acid, male genitalia development, neuron differentiation, neuron differentiation, Wnt signaling pathway, regulation of asymmetric cell division, cellular response to starvation, multicellular organism development, cell-cell signaling, regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis, regulation of protein phosphorylation, in utero embryonic development, branching involved in ureteric bud morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000158966 chr1 64470792 64693058 + CACHD1 protein_coding 57685 GO:0005891, voltage-gated calcium channel complex, GO:0005245, voltage-gated calcium channel activity, GO:0070588, calcium ion transmembrane transport, 4 6 9 7 3 21 7 2 12 ENSG00000158985 chr5 131245493 131398447 + CDC42SE2 protein_coding 56990 GO:0042995, GO:0005886, GO:0005886, GO:0005856, GO:0005737, GO:0001891, cell projection, plasma membrane, plasma membrane, cytoskeleton, cytoplasm, phagocytic cup, GO:0035591, GO:0031267, GO:0005515, signaling adaptor activity, small GTPase binding, protein binding, GO:0035023, GO:0009966, GO:0008360, GO:0006909, regulation of Rho protein signal transduction, regulation of signal transduction, regulation of cell shape, phagocytosis, 2419 2322 2817 1352 1735 1569 1307 1513 1329 ENSG00000158987 chr5 131423921 131635236 - RAPGEF6 protein_coding 51735 GO:0030139, GO:0016324, GO:0005886, GO:0005829, GO:0005813, endocytic vesicle, apical plasma membrane, plasma membrane, cytosol, centrosome, GO:0070300, GO:0031267, GO:0030742, GO:0005515, GO:0005085, phosphatidic acid binding, small GTPase binding, GTP-dependent protein binding, protein binding, guanyl-nucleotide exchange factor activity, GO:0090557, GO:0072659, GO:0043547, GO:0043087, GO:0030033, GO:0007265, establishment of endothelial intestinal barrier, protein localization to plasma membrane, positive regulation of GTPase activity, regulation of GTPase activity, microvillus assembly, Ras protein signal transduction, 231 285 267 314 309 269 286 217 204 ENSG00000159023 chr1 28887091 29120046 + EPB41 protein_coding The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]. 2035 GO:0099738, GO:0072686, GO:0045171, GO:0032991, GO:0032991, GO:0030863, GO:0030054, GO:0016604, GO:0016323, GO:0014731, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, cell cortex region, mitotic spindle, intercellular bridge, protein-containing complex, protein-containing complex, cortical cytoskeleton, cell junction, nuclear body, basolateral plasma membrane, spectrin-associated cytoskeleton, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, GO:0051219, GO:0047485, GO:0030507, GO:0008022, GO:0005545, GO:0005516, GO:0005515, GO:0005200, GO:0003779, phosphoprotein binding, protein N-terminus binding, spectrin binding, protein C-terminus binding, 1-phosphatidylinositol binding, calmodulin binding, protein binding, structural constituent of cytoskeleton, actin binding, GO:1904778, GO:1904478, GO:0051924, GO:0051301, GO:0032092, GO:0031032, GO:0030866, GO:0030036, GO:0008360, GO:0007049, positive regulation of protein localization to cell cortex, regulation of intestinal absorption, regulation of calcium ion transport, cell division, positive regulation of protein binding, actomyosin structure organization, cortical actin cytoskeleton organization, actin cytoskeleton organization, regulation of cell shape, cell cycle, 4773 5467 6297 2361 3244 3099 2644 2740 2391 ENSG00000159055 chr21 32268219 32279069 - MIS18A protein_coding 54069 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000775, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, chromosome, centromeric region, GO:0046872, GO:0042802, GO:0005515, metal ion binding, identical protein binding, protein binding, GO:0051301, GO:0044030, GO:0034080, GO:0034080, GO:0007059, GO:0007049, cell division, regulation of DNA methylation, CENP-A containing nucleosome assembly, CENP-A containing nucleosome assembly, chromosome segregation, cell cycle, 4 4 7 4 3 19 9 5 9 ENSG00000159063 chr11 78100936 78139660 - ALG8 protein_coding This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 79053 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0042283, GO:0005515, GO:0004583, GO:0000033, dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity, protein binding, dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity, alpha-1,3-mannosyltransferase activity, GO:0097502, GO:0018279, GO:0006490, GO:0006488, GO:0006487, GO:0006487, mannosylation, protein N-linked glycosylation via asparagine, oligosaccharide-lipid intermediate biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, protein N-linked glycosylation, protein N-linked glycosylation, 10 6 15 24 11 7 32 10 22 ENSG00000159069 chr9 136940435 136944696 - FBXW5 protein_coding This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]. 54461 GO:0080008, GO:0019005, GO:0005829, GO:0005737, Cul4-RING E3 ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytoplasm, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0043687, GO:0043161, GO:0031146, GO:0016567, GO:0010824, GO:0007088, GO:0000209, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, regulation of centrosome duplication, regulation of mitotic nuclear division, protein polyubiquitination, 385 424 481 295 307 306 288 281 317 ENSG00000159079 chr21 32592079 32612866 - CFAP298 protein_coding This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]. 56683 GO:0005929, GO:0005856, GO:0005829, GO:0005634, cilium, cytoskeleton, cytosol, nucleus, GO:0005515, protein binding, GO:0060271, GO:0003352, GO:0003352, cilium assembly, regulation of cilium movement, regulation of cilium movement, 6 8 15 17 3 12 11 6 27 ENSG00000159082 chr21 32628759 32728048 - SYNJ1 protein_coding This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 8867 GO:0098793, GO:0098793, GO:0097060, GO:0048471, GO:0048471, GO:0043195, GO:0030132, GO:0030117, GO:0012506, GO:0005874, GO:0005829, presynapse, presynapse, synaptic membrane, perinuclear region of cytoplasm, perinuclear region of cytoplasm, terminal bouton, clathrin coat of coated pit, membrane coat, vesicle membrane, microtubule, cytosol, GO:0043812, GO:0034595, GO:0017124, GO:0004439, GO:0004439, GO:0004439, GO:0004439, GO:0004439, GO:0004438, GO:0003723, phosphatidylinositol-4-phosphate phosphatase activity, phosphatidylinositol phosphate 5-phosphatase activity, SH3 domain binding, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-3-phosphatase activity, RNA binding, GO:1904980, GO:0061024, GO:0048489, GO:0048488, GO:0048488, GO:0048488, GO:0046856, GO:0046856, GO:0046856, GO:0046856, GO:0046855, GO:0046855, GO:0046488, GO:0043647, GO:0016191, GO:0016082, GO:0007612, GO:0007420, GO:0006836, GO:0006661, positive regulation of endosome organization, membrane organization, synaptic vesicle transport, synaptic vesicle endocytosis, synaptic vesicle endocytosis, synaptic vesicle endocytosis, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, inositol phosphate dephosphorylation, phosphatidylinositol metabolic process, inositol phosphate metabolic process, synaptic vesicle uncoating, synaptic vesicle priming, learning, brain development, neurotransmitter transport, phosphatidylinositol biosynthetic process, 1303 1173 2130 635 860 870 696 575 623 ENSG00000159086 chr21 32733899 32771858 - PAXBP1 protein_coding This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]. 94104 GO:0005829, GO:0005634, cytosol, nucleus, GO:0008134, transcription factor binding, GO:2000288, GO:0045944, GO:0031062, GO:0014842, GO:0007517, positive regulation of myoblast proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of histone methylation, regulation of skeletal muscle satellite cell proliferation, muscle organ development, 180 145 371 221 125 343 215 106 187 ENSG00000159110 chr21 33229901 33265675 + IFNAR2 protein_coding The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family. Mutations in this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]. 3455 GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005576, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0019901, GO:0005515, GO:0004905, GO:0004905, GO:0004896, protein kinase binding, protein binding, type I interferon receptor activity, type I interferon receptor activity, cytokine receptor activity, GO:0060338, GO:0060337, GO:0060337, GO:0060337, GO:0060337, GO:0051607, GO:0035456, GO:0035455, GO:0035455, GO:0019221, GO:0009615, GO:0007259, GO:0007166, regulation of type I interferon-mediated signaling pathway, type I interferon signaling pathway, type I interferon signaling pathway, type I interferon signaling pathway, type I interferon signaling pathway, defense response to virus, response to interferon-beta, response to interferon-alpha, response to interferon-alpha, cytokine-mediated signaling pathway, response to virus, receptor signaling pathway via JAK-STAT, cell surface receptor signaling pathway, 813 670 735 485 678 672 498 408 455 ENSG00000159111 chr17 47823272 47831534 - MRPL10 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010]. 124995 GO:1990904, GO:0015934, GO:0005762, GO:0005762, GO:0005762, GO:0005743, GO:0005739, GO:0005654, ribonucleoprotein complex, large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0042254, GO:0006412, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, ribosome biogenesis, translation, translation, 50 33 115 69 63 109 52 60 64 ENSG00000159128 chr21 33402896 33479348 + IFNGR2 protein_coding This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]. 3460 GO:0030659, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0000139, cytoplasmic vesicle membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0005515, GO:0004906, GO:0004896, protein binding, interferon-gamma receptor activity, cytokine receptor activity, GO:0060334, GO:0060333, GO:0019221, GO:0009615, GO:0007166, regulation of interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, cytokine-mediated signaling pathway, response to virus, cell surface receptor signaling pathway, 435 300 748 42 137 305 98 125 88 ENSG00000159131 chr21 33503931 33543491 - GART protein_coding The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 2618 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0046872, GO:0005524, GO:0004644, GO:0004641, GO:0004641, GO:0004637, GO:0004637, metal ion binding, ATP binding, phosphoribosylglycinamide formyltransferase activity, phosphoribosylformylglycinamidine cyclo-ligase activity, phosphoribosylformylglycinamidine cyclo-ligase activity, phosphoribosylamine-glycine ligase activity, phosphoribosylamine-glycine ligase activity, GO:0046654, GO:0046084, GO:0021987, GO:0021549, GO:0010035, GO:0010033, GO:0009168, GO:0006544, GO:0006189, GO:0006164, GO:0003360, tetrahydrofolate biosynthetic process, adenine biosynthetic process, cerebral cortex development, cerebellum development, response to inorganic substance, response to organic substance, purine ribonucleoside monophosphate biosynthetic process, glycine metabolic process, 'de novo' IMP biosynthetic process, purine nucleotide biosynthetic process, brainstem development, 38 35 78 103 64 76 80 57 75 ENSG00000159140 chr21 33542618 33577481 + SON protein_coding This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 6651 GO:0016607, nuclear speck, GO:0050733, GO:0005515, GO:0003723, GO:0003723, GO:0003723, GO:0003677, RS domain binding, protein binding, RNA binding, RNA binding, RNA binding, DNA binding, GO:0051726, GO:0048024, GO:0048024, GO:0043484, GO:0043066, GO:0008380, GO:0006397, GO:0000281, GO:0000226, regulation of cell cycle, regulation of mRNA splicing, via spliceosome, regulation of mRNA splicing, via spliceosome, regulation of RNA splicing, negative regulation of apoptotic process, RNA splicing, mRNA processing, mitotic cytokinesis, microtubule cytoskeleton organization, 6294 6385 8293 3873 4949 5281 4515 4262 4519 ENSG00000159147 chr21 33559542 33588708 - DONSON protein_coding This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]. 29980 GO:0030894, GO:0005657, GO:0005634, GO:0005634, replisome, replication fork, nucleus, nucleus, GO:0005515, protein binding, GO:0048478, GO:0033260, GO:0007275, GO:0007095, GO:0006260, GO:0000077, replication fork protection, nuclear DNA replication, multicellular organism development, mitotic G2 DNA damage checkpoint, DNA replication, DNA damage checkpoint, 592 571 810 521 520 675 473 446 485 ENSG00000159164 chr1 149903318 149917882 - SV2A protein_coding The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]. 9900 GO:0048786, GO:0043025, GO:0043005, GO:0031594, GO:0030672, GO:0030672, GO:0030425, GO:0030285, GO:0016021, GO:0008021, GO:0005911, GO:0005886, GO:0005783, presynaptic active zone, neuronal cell body, neuron projection, neuromuscular junction, synaptic vesicle membrane, synaptic vesicle membrane, dendrite, integral component of synaptic vesicle membrane, integral component of membrane, synaptic vesicle, cell-cell junction, plasma membrane, endoplasmic reticulum, GO:0022857, GO:0019901, transmembrane transporter activity, protein kinase binding, GO:0055085, GO:0014052, GO:0007268, GO:0006874, GO:0006836, transmembrane transport, regulation of gamma-aminobutyric acid secretion, chemical synaptic transmission, cellular calcium ion homeostasis, neurotransmitter transport, 7 4 18 14 15 44 13 15 11 ENSG00000159166 chr1 201373244 201399915 - LAD1 protein_coding The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008]. 3898 GO:0070062, GO:0015629, GO:0005604, extracellular exosome, actin cytoskeleton, basement membrane, GO:0045296, GO:0005198, cadherin binding, structural molecule activity, 0 0 0 0 0 2 0 0 1 ENSG00000159167 chr8 23841915 23854807 - STC1 protein_coding This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq, Jul 2008]. 6781 GO:0016324, GO:0005737, GO:0005634, GO:0005615, apical plasma membrane, cytoplasm, nucleus, extracellular space, GO:0042802, GO:0005515, GO:0005179, identical protein binding, protein binding, hormone activity, GO:1903403, GO:0090280, GO:0086004, GO:0071456, GO:0071385, GO:0071320, GO:0060348, GO:0051926, GO:0046697, GO:0044070, GO:0035988, GO:0033280, GO:0030336, GO:0010596, GO:0007566, GO:0007165, GO:0006874, GO:0006874, GO:0003421, GO:0001886, GO:0001503, negative regulation of renal phosphate excretion, positive regulation of calcium ion import, regulation of cardiac muscle cell contraction, cellular response to hypoxia, cellular response to glucocorticoid stimulus, cellular response to cAMP, bone development, negative regulation of calcium ion transport, decidualization, regulation of anion transport, chondrocyte proliferation, response to vitamin D, negative regulation of cell migration, negative regulation of endothelial cell migration, embryo implantation, signal transduction, cellular calcium ion homeostasis, cellular calcium ion homeostasis, growth plate cartilage axis specification, endothelial cell morphogenesis, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000159173 chr1 201403768 201429866 - TNNI1 protein_coding Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008]. 7135 GO:0005861, GO:0005861, GO:0005829, troponin complex, troponin complex, cytosol, GO:0046872, GO:0005515, GO:0003779, metal ion binding, protein binding, actin binding, GO:0060048, GO:0055010, GO:0030049, GO:0014883, GO:0006942, GO:0006936, GO:0003009, cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, muscle filament sliding, transition between fast and slow fiber, regulation of striated muscle contraction, muscle contraction, skeletal muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000159176 chr1 201483530 201509456 - CSRP1 protein_coding This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]. 1465 GO:0070062, GO:0030018, GO:0005925, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, Z disc, focal adhesion, cytoplasm, nucleus, nucleus, GO:0042805, GO:0008307, GO:0008270, GO:0005515, GO:0003723, actinin binding, structural constituent of muscle, zinc ion binding, protein binding, RNA binding, GO:0070527, GO:0060537, GO:0045214, GO:0030036, platelet aggregation, muscle tissue development, sarcomere organization, actin cytoskeleton organization, 36 51 68 98 44 133 60 39 80 ENSG00000159182 chr17 48721719 48722522 - PRAC1 protein_coding This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq, Jul 2008]. 84366 GO:0005829, GO:0005654, cytosol, nucleoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000159184 chr17 48724763 48729178 - HOXB13 protein_coding This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008]. 10481 GO:0005667, GO:0005654, GO:0000785, transcription regulator complex, nucleoplasm, chromatin, GO:1990837, GO:0043565, GO:0008327, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, methyl-CpG binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060743, GO:0060527, GO:0040008, GO:0033574, GO:0009611, GO:0008544, GO:0006357, GO:0001525, GO:0000122, epithelial cell maturation involved in prostate gland development, prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis, regulation of growth, response to testosterone, response to wounding, epidermis development, regulation of transcription by RNA polymerase II, angiogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000159186 chr2 206236236 206236871 - AC007383.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000159189 chr1 22643630 22648110 + C1QC protein_coding This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]. 714 GO:0098794, GO:0072562, GO:0062023, GO:0045202, GO:0005615, GO:0005581, GO:0005576, GO:0005576, postsynapse, blood microparticle, collagen-containing extracellular matrix, synapse, extracellular space, collagen trimer, extracellular region, extracellular region, GO:0005515, protein binding, GO:0098883, GO:0045650, GO:0045087, GO:0030853, GO:0030449, GO:0006958, GO:0006956, GO:0006955, synapse pruning, negative regulation of macrophage differentiation, innate immune response, negative regulation of granulocyte differentiation, regulation of complement activation, complement activation, classical pathway, complement activation, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000159197 chr21 34364024 34371389 + KCNE2 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]. 9992 GO:0009986, GO:0008076, GO:0008076, GO:0008076, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005764, cell surface, voltage-gated potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, lysosome, GO:1902282, GO:0044325, GO:0044325, GO:0042802, GO:0015459, GO:0015459, GO:0005515, GO:0005251, GO:0005251, GO:0005242, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, ion channel binding, ion channel binding, identical protein binding, potassium channel regulator activity, potassium channel regulator activity, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, inward rectifier potassium channel activity, GO:1990573, GO:1902260, GO:1902260, GO:1902259, GO:1902159, GO:1901979, GO:1901800, GO:1901387, GO:1901379, GO:0098915, GO:0097623, GO:0097623, GO:0086091, GO:0086091, GO:0086011, GO:0086011, GO:0086009, GO:0086005, GO:0086005, GO:0086002, GO:0071805, GO:0061337, GO:0060307, GO:0060307, GO:0060306, GO:0043586, GO:0035690, GO:0007568, potassium ion import across plasma membrane, negative regulation of delayed rectifier potassium channel activity, negative regulation of delayed rectifier potassium channel activity, regulation of delayed rectifier potassium channel activity, regulation of cyclic nucleotide-gated ion channel activity, regulation of inward rectifier potassium channel activity, positive regulation of proteasomal protein catabolic process, positive regulation of voltage-gated calcium channel activity, regulation of potassium ion transmembrane transport, membrane repolarization during ventricular cardiac muscle cell action potential, potassium ion export across plasma membrane, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, regulation of heart rate by cardiac conduction, membrane repolarization during action potential, membrane repolarization during action potential, membrane repolarization, ventricular cardiac muscle cell action potential, ventricular cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, potassium ion transmembrane transport, cardiac conduction, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of membrane repolarization, tongue development, cellular response to drug, aging, 2 0 0 0 3 0 0 0 0 ENSG00000159199 chr17 48892765 48895871 + ATP5MC1 protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 516 GO:0045263, GO:0016021, GO:0005753, GO:0005743, GO:0005739, GO:0000276, proton-transporting ATP synthase complex, coupling factor F(o), integral component of membrane, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, GO:0008289, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, lipid binding, protein binding, GO:0042776, GO:0042407, GO:0015986, GO:0006754, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, ATP biosynthetic process, 3 3 21 40 21 32 20 27 21 ENSG00000159200 chr21 34513142 34615142 - RCAN1 protein_coding The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 1827 GO:0005737, cytoplasm, GO:0008597, GO:0005515, GO:0003676, calcium-dependent protein serine/threonine phosphatase regulator activity, protein binding, nucleic acid binding, GO:0070885, GO:0070884, GO:0043666, GO:0033173, negative regulation of calcineurin-NFAT signaling cascade, regulation of calcineurin-NFAT signaling cascade, regulation of phosphoprotein phosphatase activity, calcineurin-NFAT signaling cascade, 39 33 42 16 23 23 18 33 23 ENSG00000159202 chr17 48908369 48929056 + UBE2Z protein_coding This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]. 65264 GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, nucleoplasm, nucleus, nucleus, GO:0061631, GO:0005524, GO:0005515, GO:0004869, ubiquitin conjugating enzyme activity, ATP binding, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0043066, GO:0043065, GO:0016567, GO:0016567, GO:0010951, GO:0006915, GO:0006511, negative regulation of apoptotic process, positive regulation of apoptotic process, protein ubiquitination, protein ubiquitination, negative regulation of endopeptidase activity, apoptotic process, ubiquitin-dependent protein catabolic process, 450 416 721 393 395 462 427 319 374 ENSG00000159208 chr1 150282543 150287093 + CIART protein_coding 148523 GO:0016605, GO:0005634, GO:0005634, PML body, nucleus, nucleus, GO:0070888, GO:0005515, GO:0000978, E-box binding, protein binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0045892, GO:0045475, GO:0032922, GO:0032922, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, locomotor rhythm, circadian regulation of gene expression, circadian regulation of gene expression, 1 3 0 330 339 273 271 179 158 ENSG00000159210 chr17 48929316 48945117 - SNF8 protein_coding The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 11267 GO:0070062, GO:0055037, GO:0048471, GO:0031902, GO:0016020, GO:0010008, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0000814, GO:0000814, GO:0000814, extracellular exosome, recycling endosome, perinuclear region of cytoplasm, late endosome membrane, membrane, endosome membrane, plasma membrane, cytosol, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, ESCRT II complex, ESCRT II complex, ESCRT II complex, GO:0047485, GO:0042803, GO:0016247, GO:0008134, GO:0008022, GO:0005515, protein N-terminus binding, protein homodimerization activity, channel regulator activity, transcription factor binding, protein C-terminus binding, protein binding, GO:1903772, GO:1903543, GO:0071985, GO:0061635, GO:0045732, GO:0045022, GO:0043405, GO:0043328, GO:0042176, GO:0036258, GO:0032456, GO:0016236, GO:0016197, GO:0010797, GO:0010628, GO:0006357, regulation of viral budding via host ESCRT complex, positive regulation of exosomal secretion, multivesicular body sorting pathway, regulation of protein complex stability, positive regulation of protein catabolic process, early endosome to late endosome transport, regulation of MAP kinase activity, protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, regulation of protein catabolic process, multivesicular body assembly, endocytic recycling, macroautophagy, endosomal transport, regulation of multivesicular body size involved in endosome transport, positive regulation of gene expression, regulation of transcription by RNA polymerase II, 193 211 201 284 309 441 336 364 341 ENSG00000159212 chr21 34669389 34718227 + CLIC6 protein_coding This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]. 54102 GO:0070062, GO:0034707, GO:0005886, GO:0005737, extracellular exosome, chloride channel complex, plasma membrane, cytoplasm, GO:0031751, GO:0031750, GO:0031749, GO:0005254, GO:0005244, D4 dopamine receptor binding, D3 dopamine receptor binding, D2 dopamine receptor binding, chloride channel activity, voltage-gated ion channel activity, GO:1902476, GO:0034765, chloride transmembrane transport, regulation of ion transmembrane transport, 0 0 0 0 2 0 0 0 0 ENSG00000159214 chr1 43991359 43996528 + CCDC24 protein_coding 149473 GO:0005515, protein binding, GO:0001835, blastocyst hatching, 24 36 31 22 43 44 44 23 24 ENSG00000159216 chr21 34787801 36004667 - RUNX1 protein_coding Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 861 GO:0043231, GO:0016513, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, core-binding factor complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0005524, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000977, GO:0000976, ATP binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000810, GO:1902036, GO:0071425, GO:0050855, GO:0048935, GO:0045944, GO:0045944, GO:0045893, GO:0045766, GO:0045652, GO:0045637, GO:0045616, GO:0045595, GO:0045589, GO:0043378, GO:0043371, GO:0033146, GO:0032743, GO:0030854, GO:0030182, GO:0030111, GO:0030097, GO:0030097, GO:0010629, GO:0006357, GO:0002062, GO:0001959, GO:0001503, GO:0000122, regulation of bicellular tight junction assembly, regulation of hematopoietic stem cell differentiation, hematopoietic stem cell proliferation, regulation of B cell receptor signaling pathway, peripheral nervous system neuron development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of angiogenesis, regulation of megakaryocyte differentiation, regulation of myeloid cell differentiation, regulation of keratinocyte differentiation, regulation of cell differentiation, regulation of regulatory T cell differentiation, positive regulation of CD8-positive, alpha-beta T cell differentiation, negative regulation of CD4-positive, alpha-beta T cell differentiation, regulation of intracellular estrogen receptor signaling pathway, positive regulation of interleukin-2 production, positive regulation of granulocyte differentiation, neuron differentiation, regulation of Wnt signaling pathway, hemopoiesis, hemopoiesis, negative regulation of gene expression, regulation of transcription by RNA polymerase II, chondrocyte differentiation, regulation of cytokine-mediated signaling pathway, ossification, negative regulation of transcription by RNA polymerase II, 295 301 512 273 244 409 257 159 255 ENSG00000159217 chr17 48997412 49055650 + IGF2BP1 protein_coding This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 10642 GO:1990904, GO:0070937, GO:0048471, GO:0043197, GO:0030426, GO:0030175, GO:0030027, GO:0010494, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, ribonucleoprotein complex, CRD-mediated mRNA stability complex, perinuclear region of cytoplasm, dendritic spine, growth cone, filopodium, lamellipodium, cytoplasmic stress granule, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0048027, GO:0045182, GO:0005515, GO:0003730, GO:0003730, GO:0003729, GO:0003729, GO:0003723, mRNA 5'-UTR binding, translation regulator activity, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, mRNA binding, mRNA binding, RNA binding, GO:0097150, GO:0070934, GO:0051252, GO:0051028, GO:0043488, GO:0022013, GO:0017148, GO:0010610, GO:0010468, GO:0007399, GO:0001817, neuronal stem cell population maintenance, CRD-mediated mRNA stabilization, regulation of RNA metabolic process, mRNA transport, regulation of mRNA stability, pallium cell proliferation in forebrain, negative regulation of translation, regulation of mRNA stability involved in response to stress, regulation of gene expression, nervous system development, regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000159224 chr17 48958554 48968596 - GIP protein_coding This gene encodes an incretin hormone and belongs to the glucagon superfamily. The encoded protein is important in maintaining glucose homeostasis as it is a potent stimulator of insulin secretion from pancreatic beta-cells following food ingestion and nutrient absorption. This gene stimulates insulin secretion via its G protein-coupled receptor activation of adenylyl cyclase and other signal transduction pathways. It is a relatively poor inhibitor of gastric acid secretion. [provided by RefSeq, Jul 2008]. 2695 GO:0043025, GO:0034774, GO:0005788, GO:0005615, GO:0005576, neuronal cell body, secretory granule lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0031769, GO:0005515, GO:0005179, glucagon receptor binding, protein binding, hormone activity, GO:0070328, GO:0070094, GO:0060291, GO:0055123, GO:0050796, GO:0048678, GO:0043950, GO:0043434, GO:0043200, GO:0042594, GO:0042493, GO:0042304, GO:0035640, GO:0033993, GO:0032024, GO:0031018, GO:0019233, GO:0014070, GO:0010828, GO:0010447, GO:0010269, GO:0009749, GO:0008344, GO:0007613, GO:0007565, GO:0007186, GO:0007165, triglyceride homeostasis, positive regulation of glucagon secretion, long-term synaptic potentiation, digestive system development, regulation of insulin secretion, response to axon injury, positive regulation of cAMP-mediated signaling, response to peptide hormone, response to amino acid, response to starvation, response to drug, regulation of fatty acid biosynthetic process, exploration behavior, response to lipid, positive regulation of insulin secretion, endocrine pancreas development, sensory perception of pain, response to organic cyclic compound, positive regulation of glucose transmembrane transport, response to acidic pH, response to selenium ion, response to glucose, adult locomotory behavior, memory, female pregnancy, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000159228 chr21 36069941 36073166 + CBR1 protein_coding The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]. 873 GO:1903561, GO:0070062, GO:0005829, extracellular vesicle, extracellular exosome, cytosol, GO:0050221, GO:0050221, GO:0047021, GO:0047020, GO:0016655, GO:0004090, GO:0004090, prostaglandin-E2 9-reductase activity, prostaglandin-E2 9-reductase activity, 15-hydroxyprostaglandin dehydrogenase (NADP+) activity, 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, carbonyl reductase (NADPH) activity, carbonyl reductase (NADPH) activity, GO:0055114, GO:0042373, GO:0030855, GO:0019371, GO:0017144, oxidation-reduction process, vitamin K metabolic process, epithelial cell differentiation, cyclooxygenase pathway, drug metabolic process, 5 6 10 24 10 29 11 11 6 ENSG00000159231 chr21 36134912 36146566 + CBR3 protein_coding Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]. 874 GO:0005829, GO:0005829, GO:0005654, GO:0005615, cytosol, cytosol, nucleoplasm, extracellular space, GO:0070402, GO:0005515, GO:0004090, GO:0004090, GO:0004090, GO:0000253, NADPH binding, protein binding, carbonyl reductase (NADPH) activity, carbonyl reductase (NADPH) activity, carbonyl reductase (NADPH) activity, 3-keto sterol reductase activity, GO:0055114, GO:0050890, GO:0042376, GO:0006805, oxidation-reduction process, cognition, phylloquinone catabolic process, xenobiotic metabolic process, 3 0 7 7 6 8 5 2 2 ENSG00000159239 chr2 74393836 74421662 - AC005041.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000159247 chr9 138150075 138177433 + TUBBP5 transcribed_unprocessed_pseudogene 13 9 20 5 5 8 8 12 10 ENSG00000159248 chr15 34751032 34754965 - GJD2 protein_coding This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]. 57369 GO:0045202, GO:0016021, GO:0005922, GO:0005886, synapse, integral component of membrane, connexin complex, plasma membrane, GO:0005243, gap junction channel activity, GO:0055085, GO:0007601, GO:0007268, GO:0007267, GO:0001508, transmembrane transport, visual perception, chemical synaptic transmission, cell-cell signaling, action potential, 0 0 0 0 0 0 0 0 0 ENSG00000159251 chr15 34788095 34795726 - ACTC1 protein_coding Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]. 70 GO:0098978, GO:0072562, GO:0070062, GO:0044297, GO:0031674, GO:0030175, GO:0030027, GO:0030017, GO:0030017, GO:0016020, GO:0005925, GO:0005884, GO:0005884, GO:0005869, GO:0005829, GO:0005737, GO:0005615, glutamatergic synapse, blood microparticle, extracellular exosome, cell body, I band, filopodium, lamellipodium, sarcomere, sarcomere, membrane, focal adhesion, actin filament, actin filament, dynactin complex, cytosol, cytoplasm, extracellular space, GO:0017022, GO:0017022, GO:0017022, GO:0016887, GO:0005524, myosin binding, myosin binding, myosin binding, ATPase activity, ATP binding, GO:0090131, GO:0060048, GO:0060047, GO:0060047, GO:0055008, GO:0055003, GO:0045471, GO:0043066, GO:0042493, GO:0033275, GO:0033275, GO:0031032, GO:0030240, GO:0030049, GO:0030048, GO:0010628, GO:0007015, mesenchyme migration, cardiac muscle contraction, heart contraction, heart contraction, cardiac muscle tissue morphogenesis, cardiac myofibril assembly, response to ethanol, negative regulation of apoptotic process, response to drug, actin-myosin filament sliding, actin-myosin filament sliding, actomyosin structure organization, skeletal muscle thin filament assembly, muscle filament sliding, actin filament-based movement, positive regulation of gene expression, actin filament organization, 0 0 0 0 0 0 0 0 0 ENSG00000159256 chr21 36320189 36386148 + MORC3 protein_coding This gene encodes a protein that localizes to the nuclear matrix and forms nuclear bodies via an ATP-dependent mechanism. The protein is predicted to have coiled-coil and zinc finger domains and has RNA binding activity. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]. 23515 GO:0016605, GO:0016363, GO:0005654, PML body, nuclear matrix, nucleoplasm, GO:0035064, GO:0008270, GO:0005515, GO:0003723, methylated histone binding, zinc ion binding, protein binding, RNA binding, GO:0051457, GO:0051457, GO:0050821, GO:0048147, GO:0018105, GO:0016032, GO:0009791, GO:0007569, GO:0006468, maintenance of protein location in nucleus, maintenance of protein location in nucleus, protein stabilization, negative regulation of fibroblast proliferation, peptidyl-serine phosphorylation, viral process, post-embryonic development, cell aging, protein phosphorylation, 812 1134 1316 630 1345 900 780 925 863 ENSG00000159259 chr21 36385378 36419015 + CHAF1B protein_coding Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]. 8208 GO:0033186, GO:0033186, GO:0032991, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, CAF-1 complex, CAF-1 complex, protein-containing complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0051082, GO:0042393, GO:0005515, GO:0003682, unfolded protein binding, histone binding, protein binding, chromatin binding, GO:0031497, GO:0007049, GO:0006335, GO:0006334, GO:0006281, GO:0006260, chromatin assembly, cell cycle, DNA replication-dependent nucleosome assembly, nucleosome assembly, DNA repair, DNA replication, 6 5 24 20 17 23 29 12 27 ENSG00000159261 chr21 36460621 36576569 - CLDN14 protein_coding Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]. 23562 GO:0016021, GO:0005923, GO:0005923, GO:0005886, GO:0005886, GO:0005783, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:0070830, GO:0065003, GO:0016338, GO:0007155, bicellular tight junction assembly, protein-containing complex assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000159263 chr21 36699133 36749917 + SIM2 protein_coding This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 6493 GO:0016604, GO:0005654, GO:0000785, GO:0000785, nuclear body, nucleoplasm, chromatin, chromatin, GO:0046982, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000977, protein heterodimerization activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0030324, GO:0030154, GO:0009880, GO:0007399, GO:0006357, GO:0000122, lung development, cell differentiation, embryonic pattern specification, nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000159267 chr21 36750888 36990236 - HLCS protein_coding This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]. 3141 GO:0016363, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005652, GO:0000785, nuclear matrix, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, nuclear lamina, chromatin, GO:0019899, GO:0018271, GO:0018271, GO:0018271, GO:0009374, GO:0005524, GO:0005515, GO:0004080, GO:0004079, GO:0004078, GO:0004077, enzyme binding, biotin-protein ligase activity, biotin-protein ligase activity, biotin-protein ligase activity, biotin binding, ATP binding, protein binding, biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity, biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity, biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity, biotin-[acetyl-CoA-carboxylase] ligase activity, GO:0071110, GO:0071110, GO:0070781, GO:0016570, GO:0009305, GO:0009305, GO:0006768, histone biotinylation, histone biotinylation, response to biotin, histone modification, protein biotinylation, protein biotinylation, biotin metabolic process, 11 5 18 46 11 27 28 9 23 ENSG00000159289 chr15 74069857 74082550 - GOLGA6A protein_coding The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008]. 342096 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0005515, protein binding, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 1 0 0 3 4 0 0 1 1 ENSG00000159307 chr22 43197283 43343388 - SCUBE1 protein_coding This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]. 80274 GO:0019897, GO:0009986, GO:0009986, GO:0009897, GO:0005886, GO:0005615, GO:0005615, extrinsic component of plasma membrane, cell surface, cell surface, external side of plasma membrane, plasma membrane, extracellular space, extracellular space, GO:0042802, GO:0042802, GO:0005515, GO:0005509, identical protein binding, identical protein binding, protein binding, calcium ion binding, GO:0045880, GO:0045446, GO:0022617, GO:0009791, GO:0007596, GO:0007512, GO:0007165, GO:0006954, positive regulation of smoothened signaling pathway, endothelial cell differentiation, extracellular matrix disassembly, post-embryonic development, blood coagulation, adult heart development, signal transduction, inflammatory response, 0 0 1 0 0 5 0 0 0 ENSG00000159314 chr17 45393902 45434421 - ARHGAP27 protein_coding This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]. 201176 GO:0016020, GO:0005737, membrane, cytoplasm, GO:0017124, GO:0005096, SH3 domain binding, GTPase activator activity, GO:0043547, GO:0043087, GO:0007165, GO:0006898, positive regulation of GTPase activity, regulation of GTPase activity, signal transduction, receptor-mediated endocytosis, 112 50 52 37 42 181 70 340 119 ENSG00000159322 chr15 72751369 72785846 - ADPGK protein_coding ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]. 83440 GO:0016020, GO:0005789, GO:0005783, GO:0005576, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, extracellular region, GO:0046872, GO:0043843, metal ion binding, ADP-specific glucokinase activity, GO:0061621, GO:0006006, canonical glycolysis, glucose metabolic process, 2556 2623 3262 1962 2657 2475 2190 2059 1984 ENSG00000159335 chr12 6765516 6770952 + PTMS protein_coding 5763 GO:0005634, nucleus, GO:0006260, GO:0002376, DNA replication, immune system process, 76 51 86 43 55 92 49 68 59 ENSG00000159337 chr15 42067009 42094554 - PLA2G4D protein_coding The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]. 283748 GO:0016020, GO:0005829, GO:0005829, membrane, cytosol, cytosol, GO:0102568, GO:0102567, GO:0047498, GO:0047498, GO:0005544, GO:0005509, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, calcium-dependent phospholipid binding, calcium ion binding, phospholipase A2 activity, GO:0046475, GO:0046475, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0006654, GO:0006644, GO:0006631, glycerophospholipid catabolic process, glycerophospholipid catabolic process, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, phosphatidic acid biosynthetic process, phospholipid metabolic process, fatty acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000159339 chr1 17308195 17364004 + PADI4 protein_coding This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]. 23569 GO:0032991, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0034618, GO:0005515, GO:0005509, GO:0005509, GO:0004668, GO:0004668, GO:0004668, identical protein binding, arginine binding, protein binding, calcium ion binding, calcium ion binding, protein-arginine deiminase activity, protein-arginine deiminase activity, protein-arginine deiminase activity, GO:0045087, GO:0036414, GO:0036414, GO:0036413, GO:0019827, GO:0018101, GO:0018101, GO:0006464, GO:0006338, GO:0006334, GO:0006325, GO:0006325, innate immune response, histone citrullination, histone citrullination, histone H3-R26 citrullination, stem cell population maintenance, protein citrullination, protein citrullination, cellular protein modification process, chromatin remodeling, nucleosome assembly, chromatin organization, chromatin organization, 2113 2617 1092 2431 3803 369 2295 2584 420 ENSG00000159346 chr1 202940823 202958572 - ADIPOR1 protein_coding This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]. 51094 GO:0031226, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, intrinsic component of plasma membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, GO:0097003, GO:0055100, GO:0046872, GO:0042802, GO:0038023, GO:0019901, GO:0005515, adipokinetic hormone receptor activity, adiponectin binding, metal ion binding, identical protein binding, signaling receptor activity, protein kinase binding, protein binding, GO:1901223, GO:0120162, GO:0046628, GO:0046427, GO:0046426, GO:0042593, GO:0042304, GO:0033211, GO:0033211, GO:0033210, GO:0030308, GO:0019395, GO:0019216, GO:0010906, GO:0010719, GO:0010633, GO:0009755, negative regulation of NIK/NF-kappaB signaling, positive regulation of cold-induced thermogenesis, positive regulation of insulin receptor signaling pathway, positive regulation of receptor signaling pathway via JAK-STAT, negative regulation of receptor signaling pathway via JAK-STAT, glucose homeostasis, regulation of fatty acid biosynthetic process, adiponectin-activated signaling pathway, adiponectin-activated signaling pathway, leptin-mediated signaling pathway, negative regulation of cell growth, fatty acid oxidation, regulation of lipid metabolic process, regulation of glucose metabolic process, negative regulation of epithelial to mesenchymal transition, negative regulation of epithelial cell migration, hormone-mediated signaling pathway, 3516 3373 3469 1972 2747 2155 2300 2309 1868 ENSG00000159348 chr1 202961869 202967280 - CYB5R1 protein_coding 51706 GO:0070062, GO:0031092, GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005739, extracellular exosome, platelet alpha granule membrane, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, mitochondrion, GO:0071949, GO:0005515, GO:0004128, FAD binding, protein binding, cytochrome-b5 reductase activity, acting on NAD(P)H, GO:0055114, GO:0016126, GO:0015701, GO:0002576, oxidation-reduction process, sterol biosynthetic process, bicarbonate transport, platelet degranulation, 212 265 195 148 196 188 242 203 135 ENSG00000159352 chr1 151254703 151267479 + PSMD4 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]. 5710 GO:0022624, GO:0008540, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000502, proteasome accessory complex, proteasome regulatory particle, base subcomplex, cytosol, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, proteasome complex, GO:0042802, GO:0031593, GO:0005515, GO:0003723, identical protein binding, polyubiquitin modification-dependent protein binding, protein binding, RNA binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043248, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome assembly, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 1336 1220 1609 439 710 556 486 684 590 ENSG00000159363 chr1 16985958 17011928 - ATP13A2 protein_coding This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]. 23400 GO:1905103, GO:0043202, GO:0043025, GO:0043005, GO:0032585, GO:0031982, GO:0030133, GO:0016021, GO:0012506, GO:0005776, GO:0005771, GO:0005771, GO:0005770, GO:0005765, GO:0005765, GO:0005765, GO:0005764, GO:0000421, integral component of lysosomal membrane, lysosomal lumen, neuronal cell body, neuron projection, multivesicular body membrane, vesicle, transport vesicle, integral component of membrane, vesicle membrane, autophagosome, multivesicular body, multivesicular body, late endosome, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, autophagosome membrane, GO:1903135, GO:0080025, GO:0070300, GO:0030145, GO:0019829, GO:0016887, GO:0016887, GO:0008270, GO:0005524, GO:0005515, cupric ion binding, phosphatidylinositol-3,5-bisphosphate binding, phosphatidic acid binding, manganese ion binding, ATPase-coupled cation transmembrane transporter activity, ATPase activity, ATPase activity, zinc ion binding, ATP binding, protein binding, GO:2000152, GO:1990938, GO:1905166, GO:1905165, GO:1905165, GO:1905123, GO:1905037, GO:1904714, GO:1903710, GO:1903543, GO:1903543, GO:1903146, GO:1902047, GO:1901215, GO:1901215, GO:1900180, GO:0097734, GO:0071294, GO:0071287, GO:0071287, GO:0061909, GO:0061462, GO:0055088, GO:0055069, GO:0052548, GO:0050714, GO:0046777, GO:0034599, GO:0034599, GO:0034220, GO:0033157, GO:0030003, GO:0016243, GO:0016241, GO:0016241, GO:0010821, GO:0010821, GO:0010628, GO:0007041, GO:0006914, GO:0006882, GO:0006879, GO:0006874, GO:0006874, regulation of ubiquitin-specific protease activity, peptidyl-aspartic acid autophosphorylation, negative regulation of lysosomal protein catabolic process, regulation of lysosomal protein catabolic process, regulation of lysosomal protein catabolic process, regulation of glucosylceramidase activity, autophagosome organization, regulation of chaperone-mediated autophagy, spermine transmembrane transport, positive regulation of exosomal secretion, positive regulation of exosomal secretion, regulation of autophagy of mitochondrion, polyamine transmembrane transport, negative regulation of neuron death, negative regulation of neuron death, regulation of protein localization to nucleus, extracellular exosome biogenesis, cellular response to zinc ion, cellular response to manganese ion, cellular response to manganese ion, autophagosome-lysosome fusion, protein localization to lysosome, lipid homeostasis, zinc ion homeostasis, regulation of endopeptidase activity, positive regulation of protein secretion, protein autophosphorylation, cellular response to oxidative stress, cellular response to oxidative stress, ion transmembrane transport, regulation of intracellular protein transport, cellular cation homeostasis, regulation of autophagosome size, regulation of macroautophagy, regulation of macroautophagy, regulation of mitochondrion organization, regulation of mitochondrion organization, positive regulation of gene expression, lysosomal transport, autophagy, cellular zinc ion homeostasis, cellular iron ion homeostasis, cellular calcium ion homeostasis, cellular calcium ion homeostasis, 19 27 49 54 31 63 54 27 51 ENSG00000159374 chr2 74557883 74648338 - M1AP protein_coding This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 130951 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:0051308, GO:0051308, GO:0031497, GO:0030154, GO:0007292, GO:0007283, GO:0007283, GO:0007127, GO:0006396, male meiosis chromosome separation, male meiosis chromosome separation, chromatin assembly, cell differentiation, female gamete generation, spermatogenesis, spermatogenesis, meiosis I, RNA processing, 13 26 27 17 22 28 21 15 24 ENSG00000159377 chr1 151399534 151401944 + PSMB4 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008]. 5692 GO:0070062, GO:0036064, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000502, extracellular exosome, ciliary basal body, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, proteasome complex, GO:0005515, GO:0004298, GO:0004175, GO:0001530, protein binding, threonine-type endopeptidase activity, endopeptidase activity, lipopolysaccharide binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002862, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, negative regulation of inflammatory response to antigenic stimulus, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 1360 1176 1357 939 1023 1294 852 913 848 ENSG00000159387 chr16 55323760 55330760 + IRX6 protein_coding 79190 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048468, GO:0045944, GO:0045893, GO:0030182, GO:0006357, cell development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, neuron differentiation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000159388 chr1 203305491 203309602 + BTG2 protein_coding The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008]. 7832 GO:0070062, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytoplasm, nucleus, GO:0005515, GO:0003714, protein binding, transcription corepressor activity, GO:2000178, GO:0060213, GO:0051602, GO:0045930, GO:0043524, GO:0043434, GO:0035914, GO:0031175, GO:0021954, GO:0021542, GO:0017148, GO:0014070, GO:0009952, GO:0009612, GO:0008306, GO:0008285, GO:0008285, GO:0006977, GO:0006974, GO:0006479, GO:0006281, GO:0000122, negative regulation of neural precursor cell proliferation, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, response to electrical stimulus, negative regulation of mitotic cell cycle, negative regulation of neuron apoptotic process, response to peptide hormone, skeletal muscle cell differentiation, neuron projection development, central nervous system neuron development, dentate gyrus development, negative regulation of translation, response to organic cyclic compound, anterior/posterior pattern specification, response to mechanical stimulus, associative learning, negative regulation of cell population proliferation, negative regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, cellular response to DNA damage stimulus, protein methylation, DNA repair, negative regulation of transcription by RNA polymerase II, 5195 5875 12216 17008 28241 35418 25433 27216 32329 ENSG00000159398 chr16 55846154 55956031 - CES5A protein_coding This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 221223 GO:0005615, extracellular space, GO:0080030, GO:0052689, GO:0004806, GO:0004771, methyl indole-3-acetate esterase activity, carboxylic ester hydrolase activity, triglyceride lipase activity, sterol esterase activity, GO:0016042, lipid catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000159399 chr2 74833981 74893359 + HK2 protein_coding Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]. 3099 GO:0016529, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005741, GO:0005739, sarcoplasmic reticulum, membrane, plasma membrane, cytosol, cytosol, mitochondrial outer membrane, mitochondrion, GO:0019158, GO:0008865, GO:0008865, GO:0005536, GO:0005524, GO:0005515, GO:0004396, GO:0004340, GO:0004340, mannokinase activity, fructokinase activity, fructokinase activity, glucose binding, ATP binding, protein binding, hexokinase activity, glucokinase activity, glucokinase activity, GO:2000378, GO:1990830, GO:1904925, GO:0072656, GO:0072655, GO:0061621, GO:0051156, GO:0051156, GO:0046835, GO:0046324, GO:0045766, GO:0035795, GO:0008637, GO:0007595, GO:0006096, GO:0006096, GO:0006002, GO:0002931, GO:0001678, GO:0001666, negative regulation of reactive oxygen species metabolic process, cellular response to leukemia inhibitory factor, positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization, maintenance of protein location in mitochondrion, establishment of protein localization to mitochondrion, canonical glycolysis, glucose 6-phosphate metabolic process, glucose 6-phosphate metabolic process, carbohydrate phosphorylation, regulation of glucose import, positive regulation of angiogenesis, negative regulation of mitochondrial membrane permeability, apoptotic mitochondrial changes, lactation, glycolytic process, glycolytic process, fructose 6-phosphate metabolic process, response to ischemia, cellular glucose homeostasis, response to hypoxia, 1256 790 1704 560 585 842 696 513 745 ENSG00000159403 chr12 7080199 7092607 - C1R protein_coding This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]. 715 GO:0072562, GO:0072562, GO:0070062, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, blood microparticle, extracellular exosome, extracellular space, extracellular space, extracellular region, extracellular region, GO:0042802, GO:0008236, GO:0005515, GO:0005509, GO:0004252, GO:0004252, identical protein binding, serine-type peptidase activity, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0045087, GO:0031638, GO:0031638, GO:0030449, GO:0006958, GO:0006956, GO:0006955, innate immune response, zymogen activation, zymogen activation, regulation of complement activation, complement activation, classical pathway, complement activation, immune response, 65 84 60 167 214 175 165 97 105 ENSG00000159409 chr1 151702404 151716814 - CELF3 protein_coding Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]. 11189 GO:1990904, GO:0016604, GO:0005737, GO:0005737, GO:0005634, GO:0005634, ribonucleoprotein complex, nuclear body, cytoplasm, cytoplasm, nucleus, nucleus, GO:0097322, GO:0036002, GO:0003729, GO:0003723, GO:0003723, 7SK snRNA binding, pre-mRNA binding, mRNA binding, RNA binding, RNA binding, GO:0098781, GO:0048026, GO:0030575, GO:0030317, GO:0008380, GO:0007283, GO:0006376, GO:0000381, GO:0000381, ncRNA transcription, positive regulation of mRNA splicing, via spliceosome, nuclear body organization, flagellated sperm motility, RNA splicing, spermatogenesis, mRNA splice site selection, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 4 3 0 3 3 3 ENSG00000159423 chr1 18871430 18902781 - ALDH4A1 protein_coding This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]. 8659 GO:0005759, mitochondrial matrix, GO:0042802, GO:0009055, GO:0005515, GO:0004029, GO:0003842, identical protein binding, electron transfer activity, protein binding, aldehyde dehydrogenase (NAD+) activity, 1-pyrroline-5-carboxylate dehydrogenase activity, GO:0046487, GO:0022900, GO:0019470, GO:0010133, GO:0006562, GO:0006560, glyoxylate metabolic process, electron transport chain, 4-hydroxyproline catabolic process, proline catabolic process to glutamate, proline catabolic process, proline metabolic process, 14 15 22 13 4 26 9 3 4 ENSG00000159433 chr15 42575659 42720981 + STARD9 protein_coding 57519 GO:0005814, GO:0005814, GO:0005737, GO:0005737, GO:0005634, GO:0005634, centriole, centriole, cytoplasm, cytoplasm, nucleus, nucleus, GO:0008289, GO:0008017, GO:0008017, GO:0005524, GO:0003777, GO:0003777, lipid binding, microtubule binding, microtubule binding, ATP binding, microtubule motor activity, microtubule motor activity, GO:0051225, GO:0051225, GO:0007018, spindle assembly, spindle assembly, microtubule-based movement, 11 10 22 46 19 68 33 26 55 ENSG00000159445 chr1 151873584 151909808 - THEM4 protein_coding Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008]. 117145 GO:0032587, GO:0005886, GO:0005829, GO:0005829, GO:0005759, GO:0005758, GO:0005743, GO:0005739, ruffle membrane, plasma membrane, cytosol, cytosol, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, GO:0102991, GO:0016290, GO:0005515, myristoyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, protein binding, GO:1902108, GO:0051898, GO:0043491, GO:0006637, GO:0006631, regulation of mitochondrial membrane permeability involved in apoptotic process, negative regulation of protein kinase B signaling, protein kinase B signaling, acyl-CoA metabolic process, fatty acid metabolic process, 27 15 51 94 32 86 77 30 60 ENSG00000159450 chr1 152106317 152115454 - TCHH protein_coding The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]. 7062 GO:0005856, GO:0005829, GO:0001533, cytoskeleton, cytosol, cornified envelope, GO:0046914, GO:0005509, transition metal ion binding, calcium ion binding, GO:0070268, GO:0045109, GO:0008150, cornification, intermediate filament organization, biological_process, 0 0 0 0 0 0 0 0 1 ENSG00000159455 chr1 152686123 152687401 + LCE2B protein_coding This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008]. 26239 GO:0005575, cellular_component, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:0031424, GO:0008544, keratinization, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000159459 chr15 42942897 43106113 - UBR1 protein_coding The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]. 197131 GO:0005829, GO:0005737, GO:0000502, GO:0000151, cytosol, cytoplasm, proteasome complex, ubiquitin ligase complex, GO:0070728, GO:0061630, GO:0008270, GO:0005515, leucine binding, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0071596, GO:0071233, GO:0032007, GO:0016567, GO:0016567, ubiquitin-dependent protein catabolic process via the N-end rule pathway, cellular response to leucine, negative regulation of TOR signaling, protein ubiquitination, protein ubiquitination, 210 306 287 230 230 315 255 167 213 ENSG00000159461 chr16 56361452 56425538 - AMFR protein_coding This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]. 267 GO:0048471, GO:0044322, GO:0036513, GO:0032991, GO:0030176, GO:0016021, GO:0016020, GO:0005829, GO:0005794, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0000151, perinuclear region of cytoplasm, endoplasmic reticulum quality control compartment, Derlin-1 retrotranslocation complex, protein-containing complex, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, ubiquitin ligase complex, GO:1990381, GO:1904288, GO:1904288, GO:0061630, GO:0061630, GO:0061630, GO:0051087, GO:0046872, GO:0042802, GO:0038023, GO:0034450, GO:0030674, GO:0005515, GO:0004842, GO:0004842, ubiquitin-specific protease binding, BAT3 complex binding, BAT3 complex binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, chaperone binding, metal ion binding, identical protein binding, signaling receptor activity, ubiquitin-ubiquitin ligase activity, protein-macromolecule adaptor activity, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2000638, GO:1904380, GO:0090090, GO:0070936, GO:0070936, GO:0051865, GO:0032092, GO:0030968, GO:0030968, GO:0030433, GO:0030433, GO:0030433, GO:0030433, GO:0016567, GO:0016055, GO:0007165, GO:0006511, GO:0006511, GO:0006457, GO:0000209, GO:0000209, regulation of SREBP signaling pathway, endoplasmic reticulum mannose trimming, negative regulation of canonical Wnt signaling pathway, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein autoubiquitination, positive regulation of protein binding, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, Wnt signaling pathway, signal transduction, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein folding, protein polyubiquitination, protein polyubiquitination, 157 115 266 138 145 155 126 99 125 ENSG00000159479 chr1 43383917 43389808 - MED8 protein_coding This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]. 112950 GO:0070847, GO:0016592, GO:0016592, GO:0005654, core mediator complex, mediator complex, mediator complex, nucleoplasm, GO:0005515, GO:0003712, GO:0000978, protein binding, transcription coregulator activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0016567, GO:0006367, GO:0006357, protein ubiquitination, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 190 163 210 89 110 99 93 113 87 ENSG00000159495 chr15 43276280 43302255 - TGM7 protein_coding Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]. 116179 GO:0046872, GO:0005515, GO:0003810, metal ion binding, protein binding, protein-glutamine gamma-glutamyltransferase activity, GO:0018149, peptide cross-linking, 0 0 0 0 0 0 0 2 0 ENSG00000159496 chr22 23688136 23699176 + RGL4 protein_coding This oncogene encodes a protein similar to guanine nucleotide exchange factor Ral guanine dissociation stimulator. Increased expression of this gene leads to translocation of the encoded protein to the cell membrane. The encoded protein can activate several pathways, including the Ras-Raf-MEK-ERK cascade. [provided by RefSeq, Jul 2016]. 266747 GO:0031410, cytoplasmic vesicle, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0007264, small GTPase mediated signal transduction, 1383 1277 1495 848 1183 1116 953 1039 965 ENSG00000159516 chr1 153149582 153150869 - SPRR2G protein_coding 6706 GO:0005829, GO:0001533, GO:0001533, cytosol, cornified envelope, cornified envelope, GO:0070268, GO:0030216, GO:0008544, cornification, keratinocyte differentiation, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000159527 chr1 153297862 153310718 - PGLYRP3 protein_coding This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014]. 114771 GO:0032991, GO:0016020, GO:0005576, protein-containing complex, membrane, extracellular region, GO:0046982, GO:0042834, GO:0016019, GO:0008745, GO:0008270, GO:0005515, protein heterodimerization activity, peptidoglycan binding, peptidoglycan immune receptor activity, N-acetylmuramoyl-L-alanine amidase activity, zinc ion binding, protein binding, GO:0061844, GO:0051701, GO:0050830, GO:0045087, GO:0032827, GO:0032689, GO:0031640, GO:0019730, GO:0016045, GO:0009253, antimicrobial humoral immune response mediated by antimicrobial peptide, biological process involved in interaction with host, defense response to Gram-positive bacterium, innate immune response, negative regulation of natural killer cell differentiation involved in immune response, negative regulation of interferon-gamma production, killing of cells of other organism, antimicrobial humoral response, detection of bacterium, peptidoglycan catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000159556 chr15 76336724 76342476 + ISL2 protein_coding 64843 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003677, GO:0000987, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0048935, GO:0048666, GO:0048665, GO:0045665, GO:0031290, GO:0021524, GO:0021520, GO:0007409, GO:0006357, GO:0006357, peripheral nervous system neuron development, neuron development, neuron fate specification, negative regulation of neuron differentiation, retinal ganglion cell axon guidance, visceral motor neuron differentiation, spinal cord motor neuron cell fate specification, axonogenesis, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 48 61 36 30 80 41 30 48 49 ENSG00000159579 chr16 57186137 57240475 + RSPRY1 protein_coding This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 89970 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0046872, GO:0004842, metal ion binding, ubiquitin-protein transferase activity, GO:0051603, GO:0016567, proteolysis involved in cellular protein catabolic process, protein ubiquitination, 358 343 400 198 262 247 252 194 204 ENSG00000159588 chr1 45620044 45624057 - CCDC17 protein_coding 149483 GO:0005515, protein binding, 71 147 96 102 294 225 109 218 188 ENSG00000159592 chr1 45627304 45688113 - GPBP1L1 protein_coding 60313 GO:0005634, nucleus, GO:0005515, GO:0003723, GO:0003677, protein binding, RNA binding, DNA binding, GO:0045893, GO:0006355, GO:0006351, positive regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, transcription, DNA-templated, 1477 1617 1600 1001 1410 1152 1102 1233 1037 ENSG00000159593 chr16 66802875 66873256 - NAE1 protein_coding The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8883 GO:0032991, GO:0005886, GO:0005829, GO:0005737, protein-containing complex, plasma membrane, cytosol, cytoplasm, GO:0046982, GO:0031625, GO:0019781, GO:0005515, protein heterodimerization activity, ubiquitin protein ligase binding, NEDD8 activating enzyme activity, protein binding, GO:0051402, GO:0045116, GO:0045116, GO:0045116, GO:0043687, GO:0043523, GO:0042981, GO:0042981, GO:0033314, GO:0032446, GO:0007165, neuron apoptotic process, protein neddylation, protein neddylation, protein neddylation, post-translational protein modification, regulation of neuron apoptotic process, regulation of apoptotic process, regulation of apoptotic process, mitotic DNA replication checkpoint, protein modification by small protein conjugation, signal transduction, 44 28 71 95 39 85 80 38 80 ENSG00000159596 chr1 45687214 45694443 + TMEM69 protein_coding 51249 GO:0016021, integral component of membrane, GO:0005515, protein binding, 27 21 33 65 49 64 30 42 35 ENSG00000159618 chr16 57542421 57591681 + ADGRG5 protein_coding This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 221188 GO:0016021, GO:0005887, integral component of membrane, integral component of plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007189, GO:0007186, GO:0007166, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 36 51 91 53 26 59 12 17 37 ENSG00000159625 chr16 57694793 57731805 + DRC7 protein_coding 84229 GO:0031514, GO:0005856, GO:0005737, motile cilium, cytoskeleton, cytoplasm, GO:0005515, protein binding, GO:0048870, GO:0030317, cell motility, flagellated sperm motility, 14 21 25 23 34 30 18 26 10 ENSG00000159640 chr17 63477061 63498380 + ACE protein_coding This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]. 1636 GO:0070062, GO:0070062, GO:0016021, GO:0009897, GO:0005886, GO:0005886, GO:0005886, GO:0005768, GO:0005764, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, extracellular exosome, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endosome, lysosome, extracellular space, extracellular space, extracellular region, GO:0070573, GO:0051019, GO:0031711, GO:0031434, GO:0031404, GO:0008270, GO:0008241, GO:0008241, GO:0008241, GO:0008241, GO:0008240, GO:0008238, GO:0008237, GO:0008237, GO:0008237, GO:0008237, GO:0008144, GO:0004180, GO:0004175, metallodipeptidase activity, mitogen-activated protein kinase binding, bradykinin receptor binding, mitogen-activated protein kinase kinase binding, chloride ion binding, zinc ion binding, peptidyl-dipeptidase activity, peptidyl-dipeptidase activity, peptidyl-dipeptidase activity, peptidyl-dipeptidase activity, tripeptidyl-peptidase activity, exopeptidase activity, metallopeptidase activity, metallopeptidase activity, metallopeptidase activity, metallopeptidase activity, drug binding, carboxypeptidase activity, endopeptidase activity, GO:2000170, GO:1903597, GO:1902033, GO:1902033, GO:1900086, GO:0097746, GO:0071838, GO:0061098, GO:0060218, GO:0060177, GO:0060047, GO:0050482, GO:0050435, GO:0043171, GO:0042447, GO:0042447, GO:0032943, GO:0032092, GO:0032091, GO:0019229, GO:0014910, GO:0010629, GO:0010608, GO:0008217, GO:0007283, GO:0006508, GO:0003084, GO:0003081, GO:0003081, GO:0003081, GO:0002474, GO:0002446, GO:0002019, GO:0002003, GO:0002003, GO:0001974, GO:0001822, positive regulation of peptidyl-cysteine S-nitrosylation, negative regulation of gap junction assembly, regulation of hematopoietic stem cell proliferation, regulation of hematopoietic stem cell proliferation, positive regulation of peptidyl-tyrosine autophosphorylation, blood vessel diameter maintenance, cell proliferation in bone marrow, positive regulation of protein tyrosine kinase activity, hematopoietic stem cell differentiation, regulation of angiotensin metabolic process, heart contraction, arachidonic acid secretion, amyloid-beta metabolic process, peptide catabolic process, hormone catabolic process, hormone catabolic process, mononuclear cell proliferation, positive regulation of protein binding, negative regulation of protein binding, regulation of vasoconstriction, regulation of smooth muscle cell migration, negative regulation of gene expression, posttranscriptional regulation of gene expression, regulation of blood pressure, spermatogenesis, proteolysis, positive regulation of systemic arterial blood pressure, regulation of systemic arterial blood pressure by renin-angiotensin, regulation of systemic arterial blood pressure by renin-angiotensin, regulation of systemic arterial blood pressure by renin-angiotensin, antigen processing and presentation of peptide antigen via MHC class I, neutrophil mediated immunity, regulation of renal output by angiotensin, angiotensin maturation, angiotensin maturation, blood vessel remodeling, kidney development, 4 3 4 18 0 11 1 4 7 ENSG00000159648 chr16 57976435 57988116 + TEPP protein_coding 374739 GO:0005576, extracellular region, 2 2 5 0 0 5 5 0 3 ENSG00000159650 chr3 126481281 126517773 - UROC1 protein_coding This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 131669 GO:0005829, GO:0005829, cytosol, cytosol, GO:0016153, GO:0016153, GO:0005515, urocanate hydratase activity, urocanate hydratase activity, protein binding, GO:0019557, GO:0019556, GO:0006548, GO:0006548, GO:0006548, histidine catabolic process to glutamate and formate, histidine catabolic process to glutamate and formamide, histidine catabolic process, histidine catabolic process, histidine catabolic process, 0 2 1 0 0 4 0 1 0 ENSG00000159658 chr1 46675159 46719064 - EFCAB14 protein_coding 9813 GO:0005509, calcium ion binding, 1072 987 1330 452 495 540 529 440 497 ENSG00000159674 chr4 1166932 1208962 - SPON2 protein_coding 10417 GO:0070062, GO:0031012, extracellular exosome, extracellular matrix, GO:0046872, GO:0005515, GO:0003823, GO:0001530, metal ion binding, protein binding, antigen binding, lipopolysaccharide binding, GO:0071222, GO:0060907, GO:0051607, GO:0050832, GO:0045087, GO:0043152, GO:0032760, GO:0032755, GO:0008228, GO:0007155, GO:0002448, cellular response to lipopolysaccharide, positive regulation of macrophage cytokine production, defense response to virus, defense response to fungus, innate immune response, induction of bacterial agglutination, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, opsonization, cell adhesion, mast cell mediated immunity, 29 34 51 105 70 111 115 62 85 ENSG00000159685 chr3 126704220 126960406 + CHCHD6 protein_coding 84303 GO:0140275, GO:0061617, GO:0061617, GO:0005829, GO:0005743, GO:0005739, GO:0005739, GO:0005739, GO:0001401, MIB complex, MICOS complex, MICOS complex, cytosol, mitochondrial inner membrane, mitochondrion, mitochondrion, mitochondrion, SAM complex, GO:0005515, protein binding, GO:0042407, GO:0042407, GO:0007007, GO:0006974, GO:0006974, cristae formation, cristae formation, inner mitochondrial membrane organization, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, 1 0 4 2 1 16 3 5 16 ENSG00000159692 chr4 1211448 1249953 - CTBP1 protein_coding This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 1487 GO:0017053, GO:0017053, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, transcription repressor complex, transcription repressor complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0070491, GO:0051287, GO:0042802, GO:0019904, GO:0019904, GO:0016616, GO:0008134, GO:0008022, GO:0005515, GO:0003714, GO:0003682, GO:0001226, repressing transcription factor binding, NAD binding, identical protein binding, protein domain specific binding, protein domain specific binding, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, transcription factor binding, protein C-terminus binding, protein binding, transcription corepressor activity, chromatin binding, RNA polymerase II transcription corepressor binding, GO:0090241, GO:0055114, GO:0051726, GO:0050872, GO:0045892, GO:0035067, GO:0031065, GO:0019079, GO:0008285, GO:0006468, GO:0006342, GO:0000122, negative regulation of histone H4 acetylation, oxidation-reduction process, regulation of cell cycle, white fat cell differentiation, negative regulation of transcription, DNA-templated, negative regulation of histone acetylation, positive regulation of histone deacetylation, viral genome replication, negative regulation of cell population proliferation, protein phosphorylation, chromatin silencing, negative regulation of transcription by RNA polymerase II, 613 560 756 512 541 479 480 507 552 ENSG00000159708 chr16 67326798 67385203 + LRRC36 protein_coding 55282 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000159712 chr9 97156570 97221235 - ANKRD18CP unprocessed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000159713 chr16 67389809 67393535 - TPPP3 protein_coding 51673 GO:0097427, GO:0048471, GO:0005874, microtubule bundle, perinuclear region of cytoplasm, microtubule, GO:0015631, GO:0015631, tubulin binding, tubulin binding, GO:0046785, GO:0046785, GO:0046697, GO:0032273, GO:0007566, GO:0001578, GO:0001578, microtubule polymerization, microtubule polymerization, decidualization, positive regulation of protein polymerization, embryo implantation, microtubule bundle formation, microtubule bundle formation, 30 25 21 16 12 9 14 18 18 ENSG00000159714 chr16 67394152 67416833 - ZDHHC1 protein_coding 29800 GO:0070062, GO:0016021, GO:0010008, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005783, extracellular exosome, integral component of membrane, endosome membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0019706, GO:0016409, GO:0005515, GO:0003677, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, protein binding, DNA binding, GO:1905668, GO:0140374, GO:0032461, GO:0018345, GO:0018230, GO:0006612, GO:0002230, positive regulation of protein localization to endosome, antiviral innate immune response, positive regulation of protein oligomerization, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, positive regulation of defense response to virus by host, 1 1 1 0 0 0 0 1 0 ENSG00000159720 chr16 67438014 67481237 - ATP6V0D1 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]. 9114 GO:0070062, GO:0043679, GO:0033181, GO:0033179, GO:0030670, GO:0016471, GO:0016471, GO:0016471, GO:0016324, GO:0016020, GO:0010008, GO:0008021, GO:0005813, GO:0005769, GO:0005765, GO:0005765, extracellular exosome, axon terminus, plasma membrane proton-transporting V-type ATPase complex, proton-transporting V-type ATPase, V0 domain, phagocytic vesicle membrane, vacuolar proton-transporting V-type ATPase complex, vacuolar proton-transporting V-type ATPase complex, vacuolar proton-transporting V-type ATPase complex, apical plasma membrane, membrane, endosome membrane, synaptic vesicle, centrosome, early endosome, lysosomal membrane, lysosomal membrane, GO:0046961, GO:0044877, GO:0005515, proton-transporting ATPase activity, rotational mechanism, protein-containing complex binding, protein binding, GO:1902600, GO:0090383, GO:0060271, GO:0036498, GO:0036295, GO:0034220, GO:0033572, GO:0016241, GO:0008286, GO:0007420, GO:0007035, GO:0007034, GO:0006879, proton transmembrane transport, phagosome acidification, cilium assembly, IRE1-mediated unfolded protein response, cellular response to increased oxygen levels, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, brain development, vacuolar acidification, vacuolar transport, cellular iron ion homeostasis, 4959 5052 6336 6628 5807 5794 7381 5034 4499 ENSG00000159723 chr16 67482571 67483813 - AGRP protein_coding This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009]. 181 GO:0043025, GO:0005796, GO:0005615, GO:0005615, neuronal cell body, Golgi lumen, extracellular space, extracellular space, GO:0070996, GO:0031779, GO:0005184, GO:0005184, GO:0005102, type 1 melanocortin receptor binding, melanocortin receptor binding, neuropeptide hormone activity, neuropeptide hormone activity, signaling receptor binding, GO:2000253, GO:0060259, GO:0060259, GO:0060135, GO:0048571, GO:0042755, GO:0032868, GO:0009755, GO:0008343, GO:0007631, GO:0007623, GO:0007218, GO:0007218, positive regulation of feeding behavior, regulation of feeding behavior, regulation of feeding behavior, maternal process involved in female pregnancy, long-day photoperiodism, eating behavior, response to insulin, hormone-mediated signaling pathway, adult feeding behavior, feeding behavior, circadian rhythm, neuropeptide signaling pathway, neuropeptide signaling pathway, 1 2 4 1 2 0 0 0 0 ENSG00000159733 chr4 2269582 2418663 - ZFYVE28 protein_coding 57732 GO:0031901, GO:0031901, GO:0005829, early endosome membrane, early endosome membrane, cytosol, GO:0046872, GO:0032266, GO:0005515, metal ion binding, phosphatidylinositol-3-phosphate binding, protein binding, GO:0042059, GO:0007175, GO:0007175, negative regulation of epidermal growth factor receptor signaling pathway, negative regulation of epidermal growth factor-activated receptor activity, negative regulation of epidermal growth factor-activated receptor activity, 20 22 40 40 10 97 35 10 45 ENSG00000159753 chr16 67644919 67657569 + CARMIL2 protein_coding This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]. 146206 GO:0045111, GO:0044354, GO:0031252, GO:0031234, GO:0030027, GO:0016020, GO:0015629, GO:0005886, GO:0005737, GO:0001726, intermediate filament cytoskeleton, macropinosome, cell leading edge, extrinsic component of cytoplasmic side of plasma membrane, lamellipodium, membrane, actin cytoskeleton, plasma membrane, cytoplasm, ruffle, GO:0044877, GO:0005543, protein-containing complex binding, phospholipid binding, GO:2000813, GO:1902745, GO:1900029, GO:0090091, GO:0061339, GO:0051639, GO:0044319, GO:0030335, GO:0030011, GO:0010592, GO:0007163, negative regulation of barbed-end actin filament capping, positive regulation of lamellipodium organization, positive regulation of ruffle assembly, positive regulation of extracellular matrix disassembly, establishment or maintenance of monopolar cell polarity, actin filament network formation, wound healing, spreading of cells, positive regulation of cell migration, maintenance of cell polarity, positive regulation of lamellipodium assembly, establishment or maintenance of cell polarity, 64 40 108 212 49 149 165 35 143 ENSG00000159761 chr16 67666816 67668758 + C16orf86 protein_coding 388284 18 27 15 5 30 22 18 7 28 ENSG00000159763 chr7 143132077 143139746 + PIP protein_coding 5304 GO:0070062, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, nucleus, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0019864, GO:0005515, GO:0004190, GO:0004190, GO:0003779, identical protein binding, IgG binding, protein binding, aspartic-type endopeptidase activity, aspartic-type endopeptidase activity, actin binding, GO:0070233, GO:0055085, GO:0010628, GO:0006508, GO:0006508, GO:0002682, GO:0001895, GO:0001580, negative regulation of T cell apoptotic process, transmembrane transport, positive regulation of gene expression, proteolysis, proteolysis, regulation of immune system process, retina homeostasis, detection of chemical stimulus involved in sensory perception of bitter taste, 0 1 2 0 0 1 0 1 0 ENSG00000159784 chr7 143353400 143362770 - FAM131B protein_coding 9715 GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, nucleoplasm, GO:0005515, protein binding, 6 5 3 4 7 7 10 2 0 ENSG00000159788 chr4 3293028 3439913 + RGS12 protein_coding This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]. 6002 GO:0045202, GO:0030425, GO:0016363, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000794, synapse, dendrite, nuclear matrix, plasma membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, condensed nuclear chromosome, GO:0030695, GO:0005515, GO:0005096, GO:0003924, GTPase regulator activity, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0009968, GO:0008277, GO:0007186, positive regulation of GTPase activity, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 16 15 17 15 1 22 13 9 18 ENSG00000159792 chr16 67893272 67929678 + PSKH1 protein_coding 5681 GO:0016607, GO:0005886, GO:0005815, GO:0005794, GO:0005789, GO:0005654, nuclear speck, plasma membrane, microtubule organizing center, Golgi apparatus, endoplasmic reticulum membrane, nucleoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, GO:0007507, GO:0007368, GO:0006468, heart development, determination of left/right symmetry, protein phosphorylation, 116 104 121 113 107 108 98 66 125 ENSG00000159840 chr7 143381080 143391111 + ZYX protein_coding Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Jul 2008]. 7791 GO:0045335, GO:0005925, GO:0005925, GO:0005925, GO:0005912, GO:0005829, GO:0005737, GO:0005634, GO:0001725, GO:0001725, phagocytic vesicle, focal adhesion, focal adhesion, focal adhesion, adherens junction, cytosol, cytoplasm, nucleus, stress fiber, stress fiber, GO:0046872, GO:0005515, GO:0003723, metal ion binding, protein binding, RNA binding, GO:0071346, GO:0050727, GO:0043149, GO:0016032, GO:0007267, GO:0007229, GO:0007229, GO:0007179, GO:0007179, GO:0007165, GO:0007160, cellular response to interferon-gamma, regulation of inflammatory response, stress fiber assembly, viral process, cell-cell signaling, integrin-mediated signaling pathway, integrin-mediated signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, signal transduction, cell-matrix adhesion, 7263 7425 7238 2398 5215 2884 3432 4679 2910 ENSG00000159842 chr17 1003518 1229738 - ABR protein_coding This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]. 29 GO:0098978, GO:0098685, GO:0043197, GO:0030424, GO:0016020, GO:0016020, GO:0005886, GO:0005829, glutamatergic synapse, Schaffer collateral - CA1 synapse, dendritic spine, axon, membrane, membrane, plasma membrane, cytosol, GO:0005515, GO:0005096, GO:0005085, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0090630, GO:0060313, GO:0051056, GO:0050885, GO:0050804, GO:0050766, GO:0050728, GO:0043314, GO:0043114, GO:0043065, GO:0042472, GO:0032496, GO:0030036, GO:0007420, GO:0007264, GO:0007186, GO:0002692, activation of GTPase activity, negative regulation of blood vessel remodeling, regulation of small GTPase mediated signal transduction, neuromuscular process controlling balance, modulation of chemical synaptic transmission, positive regulation of phagocytosis, negative regulation of inflammatory response, negative regulation of neutrophil degranulation, regulation of vascular permeability, positive regulation of apoptotic process, inner ear morphogenesis, response to lipopolysaccharide, actin cytoskeleton organization, brain development, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, negative regulation of cellular extravasation, 11 4 16 39 15 6 3 8 8 ENSG00000159860 chr7 143800732 143817973 + TCAF2P1 transcribed_unprocessed_pseudogene 2 7 18 8 4 12 2 1 10 ENSG00000159871 chr19 43795929 43827206 - LYPD5 protein_coding 284348 GO:0031225, GO:0005886, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, plasma membrane, extracellular region, GO:0043236, GO:0005515, laminin binding, protein binding, GO:0007160, cell-matrix adhesion, 0 0 0 0 0 0 5 0 0 ENSG00000159873 chr22 28772674 28789301 + CCDC117 protein_coding 150275 GO:0005515, protein binding, 309 357 617 249 205 185 162 115 129 ENSG00000159882 chr19 44002948 44013926 + ZNF230 protein_coding 7773 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 418 463 442 206 247 202 198 163 165 ENSG00000159884 chr9 35658290 35661511 + CCDC107 protein_coding This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]. 203260 GO:0016021, integral component of membrane, GO:0005515, protein binding, 18 6 29 25 36 51 33 27 50 ENSG00000159885 chr19 44025342 44033112 + ZNF222 protein_coding 7673 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 92 116 82 187 177 230 226 145 143 ENSG00000159899 chr9 35792154 35809732 + NPR2 protein_coding This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]. 4882 GO:0005887, GO:0005886, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0042562, GO:0017046, GO:0017046, GO:0016941, GO:0016941, GO:0016941, GO:0005525, GO:0005524, GO:0005515, GO:0004672, GO:0004383, GO:0004383, GO:0004383, GO:0001653, identical protein binding, hormone binding, peptide hormone binding, peptide hormone binding, natriuretic peptide receptor activity, natriuretic peptide receptor activity, natriuretic peptide receptor activity, GTP binding, ATP binding, protein binding, protein kinase activity, guanylate cyclase activity, guanylate cyclase activity, guanylate cyclase activity, peptide receptor activity, GO:1903779, GO:1900194, GO:0097011, GO:0060348, GO:0051447, GO:0022414, GO:0019934, GO:0010753, GO:0008217, GO:0007168, GO:0007168, GO:0007168, GO:0007165, GO:0006468, GO:0006182, GO:0006182, GO:0001503, regulation of cardiac conduction, negative regulation of oocyte maturation, cellular response to granulocyte macrophage colony-stimulating factor stimulus, bone development, negative regulation of meiotic cell cycle, reproductive process, cGMP-mediated signaling, positive regulation of cGMP-mediated signaling, regulation of blood pressure, receptor guanylyl cyclase signaling pathway, receptor guanylyl cyclase signaling pathway, receptor guanylyl cyclase signaling pathway, signal transduction, protein phosphorylation, cGMP biosynthetic process, cGMP biosynthetic process, ossification, 2 0 5 2 0 11 12 1 15 ENSG00000159904 chr7 5121239 5144546 - ZNF890P transcribed_unprocessed_pseudogene 1 1 5 10 4 0 3 2 1 ENSG00000159905 chr19 43951223 43967709 + ZNF221 protein_coding 7638 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 1 0 0 0 8 2 3 0 ENSG00000159915 chr19 44259880 44275317 + ZNF233 protein_coding 353355 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 0 0 1 0 3 3 4 7 ENSG00000159917 chr19 44228729 44305046 - ZNF235 protein_coding This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008]. 9310 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 30 44 35 57 46 33 30 32 49 ENSG00000159921 chr9 36214441 36277056 - GNE protein_coding The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 10020 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0046872, GO:0009384, GO:0008761, GO:0005524, GO:0005515, GO:0004553, metal ion binding, N-acylmannosamine kinase activity, UDP-N-acetylglucosamine 2-epimerase activity, ATP binding, protein binding, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0046835, GO:0007155, GO:0006054, GO:0006047, GO:0006045, carbohydrate phosphorylation, cell adhesion, N-acetylneuraminate metabolic process, UDP-N-acetylglucosamine metabolic process, N-acetylglucosamine biosynthetic process, 175 117 207 122 64 103 127 71 96 ENSG00000159958 chr22 41922023 41926818 - TNFRSF13C protein_coding B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]. 115650 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0038023, signaling receptor activity, GO:0042102, GO:0033209, GO:0032729, GO:0031296, GO:0031295, GO:0030890, GO:0002636, GO:0002250, GO:0001782, positive regulation of T cell proliferation, tumor necrosis factor-mediated signaling pathway, positive regulation of interferon-gamma production, B cell costimulation, T cell costimulation, positive regulation of B cell proliferation, positive regulation of germinal center formation, adaptive immune response, B cell homeostasis, 11 14 40 20 18 31 27 37 29 ENSG00000159961 chr17 3411370 3424070 + OR3A3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 8392 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000160007 chr19 46918676 47005077 + ARHGAP35 protein_coding The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]. 2909 GO:0036064, GO:0015629, GO:0005886, GO:0005829, GO:0005634, ciliary basal body, actin cytoskeleton, plasma membrane, cytosol, nucleus, GO:0005543, GO:0005525, GO:0005096, GO:0005096, GO:0003924, GO:0003677, phospholipid binding, GTP binding, GTPase activator activity, GTPase activator activity, GTPase activity, DNA binding, GO:0097485, GO:0051056, GO:0050770, GO:0045724, GO:0044319, GO:0043547, GO:0043116, GO:0043010, GO:0035024, GO:0032956, GO:0031668, GO:0030950, GO:0030900, GO:0030879, GO:0021955, GO:0016477, GO:0010976, GO:0008360, GO:0008064, GO:0007413, GO:0007411, GO:0007165, GO:0001843, neuron projection guidance, regulation of small GTPase mediated signal transduction, regulation of axonogenesis, positive regulation of cilium assembly, wound healing, spreading of cells, positive regulation of GTPase activity, negative regulation of vascular permeability, camera-type eye development, negative regulation of Rho protein signal transduction, regulation of actin cytoskeleton organization, cellular response to extracellular stimulus, establishment or maintenance of actin cytoskeleton polarity, forebrain development, mammary gland development, central nervous system neuron axonogenesis, cell migration, positive regulation of neuron projection development, regulation of cell shape, regulation of actin polymerization or depolymerization, axonal fasciculation, axon guidance, signal transduction, neural tube closure, 115 156 201 139 142 153 151 111 131 ENSG00000160013 chr19 46620468 46625118 - PTGIR protein_coding The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008]. 5739 GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0016501, GO:0005085, prostacyclin receptor activity, guanyl-nucleotide exchange factor activity, GO:0048662, GO:0048662, GO:0032496, GO:0010642, GO:0007267, GO:0007204, GO:0007189, GO:0007189, GO:0007187, GO:0007186, GO:0006954, negative regulation of smooth muscle cell proliferation, negative regulation of smooth muscle cell proliferation, response to lipopolysaccharide, negative regulation of platelet-derived growth factor receptor signaling pathway, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, inflammatory response, 2 10 5 6 2 0 3 5 1 ENSG00000160014 chr19 46601074 46610793 + CALM3 protein_coding This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]. 808 GO:1902494, GO:0043209, GO:0034704, GO:0032991, GO:0031982, GO:0031966, GO:0030672, GO:0030426, GO:0030017, GO:0008076, GO:0005886, GO:0005876, GO:0005813, GO:0005737, GO:0005634, GO:0000922, catalytic complex, myelin sheath, calcium channel complex, protein-containing complex, vesicle, mitochondrial membrane, synaptic vesicle membrane, growth cone, sarcomere, voltage-gated potassium channel complex, plasma membrane, spindle microtubule, centrosome, cytoplasm, nucleus, spindle pole, GO:0097718, GO:0072542, GO:0050998, GO:0048306, GO:0044325, GO:0043548, GO:0043539, GO:0031997, GO:0031800, GO:0031432, GO:0030235, GO:0030234, GO:0019904, GO:0019901, GO:0010856, GO:0008179, GO:0005515, GO:0005509, GO:0005509, disordered domain specific binding, protein phosphatase activator activity, nitric-oxide synthase binding, calcium-dependent protein binding, ion channel binding, phosphatidylinositol 3-kinase binding, protein serine/threonine kinase activator activity, N-terminal myristoylation domain binding, type 3 metabotropic glutamate receptor binding, titin binding, nitric-oxide synthase regulator activity, enzyme regulator activity, protein domain specific binding, protein kinase binding, adenylate cyclase activator activity, adenylate cyclase binding, protein binding, calcium ion binding, calcium ion binding, GO:2000300, GO:1901844, GO:1901842, GO:1900242, GO:0098901, GO:0090151, GO:0071902, GO:0060316, GO:0060315, GO:0055117, GO:0051592, GO:0051412, GO:0051343, GO:0051000, GO:0043388, GO:0035307, GO:0032516, GO:0032465, GO:0031954, GO:0021762, GO:0019722, GO:0010881, GO:0010880, GO:0010801, GO:0010800, GO:0007190, GO:0007186, GO:0005513, GO:0002027, GO:0001975, GO:0000226, GO:0000086, regulation of synaptic vesicle exocytosis, regulation of cell communication by electrical coupling involved in cardiac conduction, negative regulation of high voltage-gated calcium channel activity, regulation of synaptic vesicle endocytosis, regulation of cardiac muscle cell action potential, establishment of protein localization to mitochondrial membrane, positive regulation of protein serine/threonine kinase activity, positive regulation of ryanodine-sensitive calcium-release channel activity, negative regulation of ryanodine-sensitive calcium-release channel activity, regulation of cardiac muscle contraction, response to calcium ion, response to corticosterone, positive regulation of cyclic-nucleotide phosphodiesterase activity, positive regulation of nitric-oxide synthase activity, positive regulation of DNA binding, positive regulation of protein dephosphorylation, positive regulation of phosphoprotein phosphatase activity, regulation of cytokinesis, positive regulation of protein autophosphorylation, substantia nigra development, calcium-mediated signaling, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, negative regulation of peptidyl-threonine phosphorylation, positive regulation of peptidyl-threonine phosphorylation, activation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, detection of calcium ion, regulation of heart rate, response to amphetamine, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 2792 2675 2832 1117 2024 1463 1343 1919 1286 ENSG00000160049 chr1 10456522 10472526 - DFFA protein_coding Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1676 GO:0032991, GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, plasma membrane, cytosol, cytosol, nucleoplasm, nucleus, chromatin, chromatin, GO:0060703, GO:0044183, GO:0019904, GO:0005515, deoxyribonuclease inhibitor activity, protein folding chaperone, protein domain specific binding, protein binding, GO:1902511, GO:1900118, GO:1900118, GO:0070242, GO:0061077, GO:0043065, GO:0042981, GO:0032076, GO:0006309, negative regulation of apoptotic DNA fragmentation, negative regulation of execution phase of apoptosis, negative regulation of execution phase of apoptosis, thymocyte apoptotic process, chaperone-mediated protein folding, positive regulation of apoptotic process, regulation of apoptotic process, negative regulation of deoxyribonuclease activity, apoptotic DNA fragmentation, 28 30 35 46 40 57 52 40 72 ENSG00000160050 chr1 32200386 32205387 + CCDC28B protein_coding The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 79140 GO:0005813, GO:0005813, GO:0005737, centrosome, centrosome, cytoplasm, GO:0005515, protein binding, GO:0060271, cilium assembly, 37 44 42 82 83 88 78 46 68 ENSG00000160051 chr1 32205661 32208687 + IQCC protein_coding 55721 GO:0005515, protein binding, 29 55 48 35 40 40 46 42 56 ENSG00000160055 chr1 32214472 32222359 - TMEM234 protein_coding 56063 GO:0016021, integral component of membrane, GO:0005515, protein binding, 305 261 390 97 155 145 119 170 175 ENSG00000160058 chr1 32365103 32394731 - BSDC1 protein_coding 55108 GO:0005515, protein binding, 992 936 1220 546 642 671 534 571 609 ENSG00000160062 chr1 32539427 32605939 + ZBTB8A protein_coding 653121 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0046872, GO:0005515, GO:0003674, GO:0000977, metal ion binding, protein binding, molecular_function, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 0 3 0 0 0 0 1 3 3 ENSG00000160072 chr1 1471769 1497848 + ATAD3B protein_coding The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 83858 GO:0101003, GO:0030667, GO:0005886, GO:0005743, GO:0005739, GO:0005739, ficolin-1-rich granule membrane, secretory granule membrane, plasma membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0016887, GO:0008270, GO:0005524, ATPase activity, zinc ion binding, ATP binding, GO:0043312, GO:0007005, neutrophil degranulation, mitochondrion organization, 67 97 111 131 85 183 106 99 99 ENSG00000160075 chr1 1541673 1574869 - SSU72 protein_coding 29101 GO:0005847, GO:0005829, GO:0005654, mRNA cleavage and polyadenylation specificity factor complex, cytosol, nucleoplasm, GO:0106307, GO:0106306, GO:0008420, GO:0008420, GO:0005515, protein threonine phosphatase activity, protein serine phosphatase activity, RNA polymerase II CTD heptapeptide repeat phosphatase activity, RNA polymerase II CTD heptapeptide repeat phosphatase activity, protein binding, GO:0070940, GO:0070940, GO:0006378, GO:0006378, GO:0006369, dephosphorylation of RNA polymerase II C-terminal domain, dephosphorylation of RNA polymerase II C-terminal domain, mRNA polyadenylation, mRNA polyadenylation, termination of RNA polymerase II transcription, 1894 1837 2137 747 1264 1118 900 1141 966 ENSG00000160087 chr1 1253909 1273885 - UBE2J2 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]. 118424 GO:0016021, GO:0005789, GO:0005783, GO:0005634, GO:0000151, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, ubiquitin ligase complex, GO:0061631, GO:0061631, GO:0031625, GO:0005524, GO:0005515, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ATP binding, protein binding, GO:1903955, GO:0030433, GO:0030433, GO:0016567, GO:0006986, GO:0000209, positive regulation of protein targeting to mitochondrion, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, response to unfolded protein, protein polyubiquitination, 465 482 514 373 557 408 318 456 295 ENSG00000160094 chr1 33256545 33300719 + ZNF362 protein_coding 149076 GO:0000785, chromatin, GO:0046872, GO:0003700, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 71 81 80 83 68 64 52 67 74 ENSG00000160097 chr1 32862268 32872482 - FNDC5 protein_coding This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 252995 GO:0016021, GO:0005886, GO:0005886, GO:0005783, GO:0005778, GO:0005576, GO:0005576, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum, peroxisomal membrane, extracellular region, extracellular region, GO:0005179, GO:0003674, hormone activity, molecular_function, GO:0090336, GO:0090336, GO:0014850, GO:0008150, GO:0007165, positive regulation of brown fat cell differentiation, positive regulation of brown fat cell differentiation, response to muscle activity, biological_process, signal transduction, 2 1 2 2 2 1 0 0 1 ENSG00000160111 chr19 16892947 17026815 - CPAMD8 protein_coding This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]. 27151 GO:0005886, GO:0005615, plasma membrane, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, GO:0001654, negative regulation of endopeptidase activity, eye development, 5 3 4 3 11 14 11 10 4 ENSG00000160113 chr19 17231883 17245940 - NR2F6 protein_coding 2063 GO:0005654, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0008270, GO:0005515, GO:0004879, GO:0003700, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, zinc ion binding, protein binding, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050965, GO:0048856, GO:0048666, GO:0043153, GO:0030522, GO:0030154, GO:0006367, GO:0006357, GO:0000122, GO:0000122, detection of temperature stimulus involved in sensory perception of pain, anatomical structure development, neuron development, entrainment of circadian clock by photoperiod, intracellular receptor signaling pathway, cell differentiation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 5 7 6 5 4 4 3 1 ENSG00000160117 chr19 17281645 17287646 + ANKLE1 protein_coding 126549 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0005515, GO:0004519, protein binding, endonuclease activity, GO:2001022, GO:0090305, GO:0006611, GO:0006611, GO:0006281, positive regulation of response to DNA damage stimulus, nucleic acid phosphodiester bond hydrolysis, protein export from nucleus, protein export from nucleus, DNA repair, 14 8 16 7 8 17 15 3 12 ENSG00000160124 chr3 122359591 122383231 - CCDC58 protein_coding 131076 GO:0005739, mitochondrion, 14 9 13 20 8 30 5 8 8 ENSG00000160131 chrX 151396515 151409364 + VMA21 protein_coding This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]. 203547 GO:0033116, GO:0016021, GO:0012507, GO:0005789, GO:0005773, GO:0005764, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, ER to Golgi transport vesicle membrane, endoplasmic reticulum membrane, vacuole, lysosome, GO:0005515, protein binding, GO:0070072, GO:0070072, GO:0043462, vacuolar proton-transporting V-type ATPase complex assembly, vacuolar proton-transporting V-type ATPase complex assembly, regulation of ATPase activity, 29 48 63 54 30 91 36 29 62 ENSG00000160145 chr3 124080023 124726325 + KALRN protein_coding Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]. 8997 GO:0070062, GO:0015629, GO:0005829, GO:0005829, GO:0005654, extracellular exosome, actin cytoskeleton, cytosol, cytosol, nucleoplasm, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005085, GO:0005085, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, protein serine/threonine kinase activity, GO:0061003, GO:0060137, GO:0060125, GO:0051056, GO:0048013, GO:0046959, GO:0043547, GO:0043065, GO:0042711, GO:0035556, GO:0035176, GO:0035023, GO:0016192, GO:0008344, GO:0007613, GO:0007595, GO:0007528, GO:0007399, GO:0007186, GO:0007165, GO:0006468, positive regulation of dendritic spine morphogenesis, maternal process involved in parturition, negative regulation of growth hormone secretion, regulation of small GTPase mediated signal transduction, ephrin receptor signaling pathway, habituation, positive regulation of GTPase activity, positive regulation of apoptotic process, maternal behavior, intracellular signal transduction, social behavior, regulation of Rho protein signal transduction, vesicle-mediated transport, adult locomotory behavior, memory, lactation, neuromuscular junction development, nervous system development, G protein-coupled receptor signaling pathway, signal transduction, protein phosphorylation, 1 0 3 7 0 5 5 1 1 ENSG00000160161 chr19 19538248 19546659 + CILP2 protein_coding 148113 GO:0070062, extracellular exosome, GO:0004551, GO:0004035, nucleotide diphosphatase activity, alkaline phosphatase activity, GO:0016311, dephosphorylation, 1 4 4 2 0 1 0 1 5 ENSG00000160172 chr11 67791648 67805336 - FAM86C2P transcribed_unprocessed_pseudogene 645332 GO:0008168, methyltransferase activity, GO:0032259, methylation, 1 1 1 0 0 0 0 1 7 ENSG00000160179 chr21 42199689 42297244 + ABCG1 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]. 9619 GO:0055037, GO:0016021, GO:0009897, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005789, GO:0005768, GO:0005739, GO:0000139, recycling endosome, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endosome, mitochondrion, Golgi membrane, GO:0140328, GO:0120020, GO:0090554, GO:0046982, GO:0043531, GO:0042803, GO:0034041, GO:0034041, GO:0019534, GO:0016887, GO:0015485, GO:0005543, GO:0005524, GO:0005515, floppase activity, cholesterol transfer activity, phosphatidylcholine floppase activity, protein heterodimerization activity, ADP binding, protein homodimerization activity, ATPase-coupled sterol transmembrane transporter activity, ATPase-coupled sterol transmembrane transporter activity, toxin transmembrane transporter activity, ATPase activity, cholesterol binding, phospholipid binding, ATP binding, protein binding, GO:1902004, GO:1901998, GO:0120009, GO:0071403, GO:0055091, GO:0055085, GO:0050714, GO:0045542, GO:0043691, GO:0042987, GO:0042632, GO:0042632, GO:0034436, GO:0034375, GO:0034375, GO:0034374, GO:0034204, GO:0033993, GO:0033700, GO:0033344, GO:0033344, GO:0033344, GO:0032367, GO:0010887, GO:0010875, GO:0010872, GO:0010745, GO:0010033, GO:0008203, positive regulation of amyloid-beta formation, toxin transport, intermembrane lipid transfer, cellular response to high density lipoprotein particle stimulus, phospholipid homeostasis, transmembrane transport, positive regulation of protein secretion, positive regulation of cholesterol biosynthetic process, reverse cholesterol transport, amyloid precursor protein catabolic process, cholesterol homeostasis, cholesterol homeostasis, glycoprotein transport, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, lipid translocation, response to lipid, phospholipid efflux, cholesterol efflux, cholesterol efflux, cholesterol efflux, intracellular cholesterol transport, negative regulation of cholesterol storage, positive regulation of cholesterol efflux, regulation of cholesterol esterification, negative regulation of macrophage derived foam cell differentiation, response to organic substance, cholesterol metabolic process, 386 592 1186 181 498 660 223 420 461 ENSG00000160180 chr21 42311667 42315651 - TFF3 protein_coding Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]. 7033 GO:0030141, GO:0005615, GO:0005576, GO:0005576, secretory granule, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0030277, GO:0010906, maintenance of gastrointestinal epithelium, regulation of glucose metabolic process, 2 3 5 0 0 0 0 1 0 ENSG00000160181 chr21 42346357 42351128 - TFF2 protein_coding Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]. 7032 GO:0005615, extracellular space, GO:0031723, GO:0005515, CXCR4 chemokine receptor binding, protein binding, GO:0070098, GO:0060455, GO:0030277, chemokine-mediated signaling pathway, negative regulation of gastric acid secretion, maintenance of gastrointestinal epithelium, 0 0 0 0 0 2 0 0 0 ENSG00000160182 chr21 42362282 42366594 - TFF1 protein_coding Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]. 7031 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008083, GO:0005515, growth factor activity, protein binding, GO:0043434, GO:0035902, GO:0030277, GO:0030154, GO:0010039, GO:0008285, GO:0007165, GO:0005975, response to peptide hormone, response to immobilization stress, maintenance of gastrointestinal epithelium, cell differentiation, response to iron ion, negative regulation of cell population proliferation, signal transduction, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000160183 chr21 42371837 42396846 - TMPRSS3 protein_coding This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]. 64699 GO:0043025, GO:0016021, GO:0005789, GO:0005783, neuronal cell body, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0017080, GO:0005044, GO:0004252, sodium channel regulator activity, scavenger receptor activity, serine-type endopeptidase activity, GO:0007605, GO:0006897, GO:0006883, GO:0006508, sensory perception of sound, endocytosis, cellular sodium ion homeostasis, proteolysis, 5 0 2 5 3 1 4 0 5 ENSG00000160185 chr21 42403447 42447681 + UBASH3A protein_coding This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 53347 GO:0070062, GO:0005829, GO:0005794, GO:0005737, GO:0005654, extracellular exosome, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0050860, GO:0001817, negative regulation of T cell receptor signaling pathway, regulation of cytokine production, 18 20 76 98 22 73 51 22 30 ENSG00000160188 chr21 42472486 42496354 - RSPH1 protein_coding This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. 89765 GO:0072687, GO:0031514, GO:0031514, GO:0005829, GO:0005829, GO:0005634, GO:0005634, GO:0001520, GO:0000794, meiotic spindle, motile cilium, motile cilium, cytosol, cytosol, nucleus, nucleus, outer dense fiber, condensed nuclear chromosome, GO:0005515, protein binding, GO:0051321, GO:0035082, GO:0035082, GO:0007286, meiotic cell cycle, axoneme assembly, axoneme assembly, spermatid development, 1 0 0 2 1 0 0 3 0 ENSG00000160190 chr21 42496008 42581440 + SLC37A1 protein_coding The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 54020 GO:0030176, GO:0030176, GO:0016020, GO:0005789, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, GO:0061513, GO:0061513, glucose 6-phosphate:inorganic phosphate antiporter activity, glucose 6-phosphate:inorganic phosphate antiporter activity, GO:0035435, GO:0035435, GO:0015760, GO:0015760, GO:0015760, GO:0008643, phosphate ion transmembrane transport, phosphate ion transmembrane transport, glucose-6-phosphate transport, glucose-6-phosphate transport, glucose-6-phosphate transport, carbohydrate transport, 95 99 115 85 130 120 110 94 95 ENSG00000160191 chr21 42653636 42775509 + PDE9A protein_coding The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5152 GO:0048471, GO:0043204, GO:0042383, GO:0032587, GO:0005829, GO:0005829, GO:0005794, GO:0005783, perinuclear region of cytoplasm, perikaryon, sarcolemma, ruffle membrane, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum, GO:0047555, GO:0047555, GO:0046872, GO:0005515, GO:0004114, 3',5'-cyclic-GMP phosphodiesterase activity, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, protein binding, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0046069, GO:0046069, GO:0046069, GO:0046068, GO:0019934, GO:0010613, GO:0007165, cGMP catabolic process, cGMP catabolic process, cGMP catabolic process, cGMP metabolic process, cGMP-mediated signaling, positive regulation of cardiac muscle hypertrophy, signal transduction, 3 3 8 4 2 26 6 1 12 ENSG00000160193 chr21 42843094 42879568 - WDR4 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]. 10785 GO:0043527, GO:0043527, GO:0005829, GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, tRNA methyltransferase complex, tRNA methyltransferase complex, cytosol, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0008176, GO:0008176, GO:0005515, tRNA (guanine-N7-)-methyltransferase activity, tRNA (guanine-N7-)-methyltransferase activity, protein binding, GO:0106004, GO:0006974, GO:0006400, tRNA (guanine-N7)-methylation, cellular response to DNA damage stimulus, tRNA modification, 8 5 12 18 2 12 19 3 13 ENSG00000160194 chr21 42879644 42913304 + NDUFV3 protein_coding The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 4731 GO:0005747, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, GO:0005515, GO:0003723, NADH dehydrogenase (ubiquinone) activity, protein binding, RNA binding, GO:0042775, GO:0042775, GO:0032981, GO:0006120, GO:0006120, mitochondrial ATP synthesis coupled electron transport, mitochondrial ATP synthesis coupled electron transport, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 61 60 77 70 77 109 73 61 64 ENSG00000160199 chr21 42974510 43033931 + PKNOX1 protein_coding 5316 GO:0005737, GO:0005667, GO:0000785, GO:0000785, cytoplasm, transcription regulator complex, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003682, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0043010, GO:0030218, GO:0030217, GO:0006366, GO:0006357, GO:0001525, camera-type eye development, erythrocyte differentiation, T cell differentiation, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, angiogenesis, 435 326 572 215 302 251 290 209 174 ENSG00000160200 chr21 43053191 43076943 - CBS protein_coding The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]. 875 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:1904047, GO:0072341, GO:0070026, GO:0070025, GO:0050421, GO:0046872, GO:0042803, GO:0042802, GO:0031625, GO:0030170, GO:0030170, GO:0020037, GO:0020037, GO:0020037, GO:0019899, GO:0019825, GO:0005515, GO:0004122, S-adenosyl-L-methionine binding, modified amino acid binding, nitric oxide binding, carbon monoxide binding, nitrite reductase (NO-forming) activity, metal ion binding, protein homodimerization activity, identical protein binding, ubiquitin protein ligase binding, pyridoxal phosphate binding, pyridoxal phosphate binding, heme binding, heme binding, heme binding, enzyme binding, oxygen binding, protein binding, cystathionine beta-synthase activity, GO:0070814, GO:0070814, GO:0070814, GO:0055114, GO:0050667, GO:0043418, GO:0042262, GO:0019448, GO:0019346, GO:0019346, GO:0019344, GO:0019343, GO:0006565, GO:0006563, GO:0006535, hydrogen sulfide biosynthetic process, hydrogen sulfide biosynthetic process, hydrogen sulfide biosynthetic process, oxidation-reduction process, homocysteine metabolic process, homocysteine catabolic process, DNA protection, L-cysteine catabolic process, transsulfuration, transsulfuration, cysteine biosynthetic process, cysteine biosynthetic process via cystathionine, L-serine catabolic process, L-serine metabolic process, cysteine biosynthetic process from serine, 43 49 50 18 36 85 24 20 51 ENSG00000160201 chr21 43092956 43107587 - U2AF1 protein_coding This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 7307 GO:0089701, GO:0089701, GO:0071013, GO:0016607, GO:0015030, GO:0005681, GO:0005681, GO:0005654, GO:0005654, U2AF complex, U2AF complex, catalytic step 2 spliceosome, nuclear speck, Cajal body, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, GO:0046872, GO:0030628, GO:0005515, GO:0003723, metal ion binding, pre-mRNA 3'-splice site binding, protein binding, RNA binding, GO:0031124, GO:0008380, GO:0006406, GO:0006405, GO:0006397, GO:0000398, GO:0000398, GO:0000398, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1277 700 622 1724 1541 1833 1274 1332 1514 ENSG00000160202 chr21 43169008 43172805 + CRYAA protein_coding Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014]. 1409 GO:0032991, GO:0005829, GO:0005737, GO:0005654, GO:0005634, protein-containing complex, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0051082, GO:0051082, GO:0046872, GO:0042802, GO:0005515, GO:0005212, GO:0005198, unfolded protein binding, unfolded protein binding, metal ion binding, identical protein binding, protein binding, structural constituent of eye lens, structural molecule activity, GO:0050896, GO:0050821, GO:0043066, GO:0043066, GO:0042026, GO:0032387, GO:0007601, response to stimulus, protein stabilization, negative regulation of apoptotic process, negative regulation of apoptotic process, protein refolding, negative regulation of intracellular transport, visual perception, 0 0 0 0 0 0 0 0 1 ENSG00000160207 chr21 43529192 43659493 - HSF2BP protein_coding HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]. 11077 GO:0005829, GO:0005694, cytosol, chromosome, GO:0005515, protein binding, GO:1990918, GO:0007283, GO:0007141, GO:0006366, double-strand break repair involved in meiotic recombination, spermatogenesis, male meiosis I, transcription by RNA polymerase II, 4 0 0 0 0 0 0 0 0 ENSG00000160208 chr21 43659548 43696079 + RRP1B protein_coding 23076 GO:0030688, GO:0030687, GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0001652, GO:0000792, GO:0000791, preribosome, small subunit precursor, preribosome, large subunit precursor, cytosol, nucleolus, nucleoplasm, nucleus, nucleus, granular component, heterochromatin, euchromatin, GO:0005515, GO:0003723, GO:0003713, protein binding, RNA binding, transcription coactivator activity, GO:0098586, GO:0045944, GO:0043923, GO:0043484, GO:0043065, GO:0034260, GO:0016032, GO:0010923, GO:0008380, GO:0006915, GO:0006397, GO:0006364, cellular response to virus, positive regulation of transcription by RNA polymerase II, positive regulation by host of viral transcription, regulation of RNA splicing, positive regulation of apoptotic process, negative regulation of GTPase activity, viral process, negative regulation of phosphatase activity, RNA splicing, apoptotic process, mRNA processing, rRNA processing, 31 37 76 88 25 126 96 29 126 ENSG00000160209 chr21 43719094 43762307 + PDXK protein_coding The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 8566 GO:0070062, GO:0035580, GO:0034774, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005576, extracellular exosome, specific granule lumen, secretory granule lumen, cytosol, cytosol, cytosol, nucleoplasm, nucleus, extracellular region, GO:0042803, GO:0031403, GO:0031402, GO:0030955, GO:0030170, GO:0008478, GO:0008478, GO:0008478, GO:0008270, GO:0005524, GO:0000287, protein homodimerization activity, lithium ion binding, sodium ion binding, potassium ion binding, pyridoxal phosphate binding, pyridoxal kinase activity, pyridoxal kinase activity, pyridoxal kinase activity, zinc ion binding, ATP binding, magnesium ion binding, GO:0043312, GO:0042816, GO:0016310, GO:0009443, GO:0009443, GO:0009443, GO:0009443, neutrophil degranulation, vitamin B6 metabolic process, phosphorylation, pyridoxal 5'-phosphate salvage, pyridoxal 5'-phosphate salvage, pyridoxal 5'-phosphate salvage, pyridoxal 5'-phosphate salvage, 435 550 840 380 521 580 429 411 546 ENSG00000160211 chrX 154531390 154547572 - G6PD protein_coding This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2539 GO:0070062, GO:0043231, GO:0034451, GO:0016020, GO:0009898, GO:0005829, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, intracellular membrane-bounded organelle, centriolar satellite, membrane, cytoplasmic side of plasma membrane, cytosol, cytosol, cytoplasm, nucleus, GO:0050661, GO:0042803, GO:0042802, GO:0005536, GO:0005536, GO:0005515, GO:0004345, GO:0004345, NADP binding, protein homodimerization activity, identical protein binding, glucose binding, glucose binding, protein binding, glucose-6-phosphate dehydrogenase activity, glucose-6-phosphate dehydrogenase activity, GO:2000378, GO:1904879, GO:0061052, GO:0055114, GO:0051156, GO:0051156, GO:0046390, GO:0045471, GO:0043523, GO:0043249, GO:0034599, GO:0032094, GO:0021762, GO:0019322, GO:0014070, GO:0010734, GO:0010041, GO:0009051, GO:0006749, GO:0006740, GO:0006739, GO:0006695, GO:0006629, GO:0006098, GO:0006098, GO:0006006, negative regulation of reactive oxygen species metabolic process, positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, negative regulation of cell growth involved in cardiac muscle cell development, oxidation-reduction process, glucose 6-phosphate metabolic process, glucose 6-phosphate metabolic process, ribose phosphate biosynthetic process, response to ethanol, regulation of neuron apoptotic process, erythrocyte maturation, cellular response to oxidative stress, response to food, substantia nigra development, pentose biosynthetic process, response to organic cyclic compound, negative regulation of protein glutathionylation, response to iron(III) ion, pentose-phosphate shunt, oxidative branch, glutathione metabolic process, NADPH regeneration, NADP metabolic process, cholesterol biosynthetic process, lipid metabolic process, pentose-phosphate shunt, pentose-phosphate shunt, glucose metabolic process, 1712 1918 2323 560 1400 896 820 1239 908 ENSG00000160213 chr21 43772511 43776445 - CSTB protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]. 1476 GO:1904813, GO:1904724, GO:0070062, GO:0062023, GO:0034774, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005634, GO:0005615, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, collagen-containing extracellular matrix, secretory granule lumen, cytosol, cytosol, cytoplasm, nucleolus, nucleus, extracellular space, extracellular space, extracellular region, GO:0004869, GO:0004869, GO:0004866, GO:0003723, GO:0002020, GO:0002020, cysteine-type endopeptidase inhibitor activity, cysteine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, RNA binding, protease binding, protease binding, GO:0045861, GO:0043312, GO:0010951, GO:0010466, GO:0008344, negative regulation of proteolysis, neutrophil degranulation, negative regulation of endopeptidase activity, negative regulation of peptidase activity, adult locomotory behavior, 420 250 755 936 492 1390 905 400 1073 ENSG00000160214 chr21 43789513 43805293 + RRP1 protein_coding The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq, Jul 2008]. 8568 GO:0030688, GO:0030687, GO:0005730, GO:0005730, GO:0005634, preribosome, small subunit precursor, preribosome, large subunit precursor, nucleolus, nucleolus, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006364, rRNA processing, 15 29 42 149 66 101 97 69 61 ENSG00000160216 chr21 43865186 43986536 + AGPAT3 protein_coding The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 56894 GO:0016021, GO:0016020, GO:0012505, GO:0005886, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0005635, GO:0000139, integral component of membrane, membrane, endomembrane system, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nuclear envelope, Golgi membrane, GO:0016746, GO:0005515, GO:0003841, GO:0003841, GO:0003841, GO:0003841, transferase activity, transferring acyl groups, protein binding, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0016024, GO:0008654, GO:0006654, CDP-diacylglycerol biosynthetic process, phospholipid biosynthetic process, phosphatidic acid biosynthetic process, 82 73 135 180 94 161 124 65 154 ENSG00000160218 chr21 44012319 44106552 + TRAPPC10 protein_coding The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]. 7109 GO:1990071, GO:0030008, GO:0005829, GO:0000139, TRAPPII protein complex, TRAPP complex, cytosol, Golgi membrane, GO:0005515, protein binding, GO:0048208, GO:0034498, GO:0006891, COPII vesicle coating, early endosome to Golgi transport, intra-Golgi vesicle-mediated transport, 665 794 1155 426 592 721 526 513 436 ENSG00000160219 chrX 154675249 154751583 - GAB3 protein_coding This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 139716 GO:0030225, macrophage differentiation, 543 644 734 472 765 848 545 604 612 ENSG00000160221 chr21 44133605 44210114 + GATD3A protein_coding This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 8209 GO:0005739, mitochondrion, 7 22 10 15 32 4 18 24 8 ENSG00000160223 chr21 44217014 44240966 - ICOSLG protein_coding 23308 GO:0070062, GO:0036464, GO:0016021, GO:0009897, GO:0005886, GO:0005886, extracellular exosome, cytoplasmic ribonucleoprotein granule, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005102, GO:0005102, identical protein binding, protein binding, signaling receptor binding, signaling receptor binding, GO:0050852, GO:0042113, GO:0042110, GO:0042104, GO:0031295, GO:0007165, GO:0006972, GO:0006952, GO:0002250, GO:0001817, T cell receptor signaling pathway, B cell activation, T cell activation, positive regulation of activated T cell proliferation, T cell costimulation, signal transduction, hyperosmotic response, defense response, adaptive immune response, regulation of cytokine production, 3 14 19 8 6 16 3 7 10 ENSG00000160224 chr21 44285838 44298648 + AIRE protein_coding This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]. 326 GO:0016604, GO:0005737, GO:0005634, GO:0005634, nuclear body, cytoplasm, nucleus, nucleus, GO:0045182, GO:0042802, GO:0042393, GO:0042393, GO:0008270, GO:0005515, GO:0003682, GO:0003682, GO:0001228, GO:0000977, GO:0000977, GO:0000976, translation regulator activity, identical protein binding, histone binding, histone binding, zinc ion binding, protein binding, chromatin binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000410, GO:2000410, GO:0097536, GO:0097536, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045060, GO:0032602, GO:0032602, GO:0006959, GO:0006955, GO:0006417, GO:0006355, GO:0002509, GO:0002509, GO:0002458, GO:0002458, regulation of thymocyte migration, regulation of thymocyte migration, thymus epithelium morphogenesis, thymus epithelium morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative thymic T cell selection, chemokine production, chemokine production, humoral immune response, immune response, regulation of translation, regulation of transcription, DNA-templated, central tolerance induction to self antigen, central tolerance induction to self antigen, peripheral T cell tolerance induction, peripheral T cell tolerance induction, 1 0 1 0 0 11 0 0 4 ENSG00000160226 chr21 44328944 44339402 - CFAP410 protein_coding Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]. 755 GO:0043231, GO:0036064, GO:0036064, GO:0032391, GO:0005886, GO:0005829, GO:0005739, GO:0005737, GO:0001750, intracellular membrane-bounded organelle, ciliary basal body, ciliary basal body, photoreceptor connecting cilium, plasma membrane, cytosol, mitochondrion, cytoplasm, photoreceptor outer segment, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0060271, GO:0042769, GO:0008360, GO:0007010, GO:0007010, cilium assembly, DNA damage response, detection of DNA damage, regulation of cell shape, cytoskeleton organization, cytoskeleton organization, 41 61 57 65 43 125 67 50 57 ENSG00000160229 chr19 20776304 20807322 + ZNF66 protein_coding 7617 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 54 45 53 29 49 49 33 28 39 ENSG00000160233 chr21 44455486 44462196 + LRRC3 protein_coding 81543 GO:0016021, integral component of membrane, GO:0005515, protein binding, 13 18 12 6 8 8 4 4 8 ENSG00000160255 chr21 44885953 44931989 - ITGB2 protein_coding This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 3689 GO:1903561, GO:0101003, GO:0099568, GO:0070821, GO:0070062, GO:0044853, GO:0043235, GO:0035579, GO:0034689, GO:0034688, GO:0034687, GO:0016020, GO:0009986, GO:0009986, GO:0009986, GO:0009897, GO:0008305, GO:0008305, GO:0005925, GO:0005886, GO:0005886, extracellular vesicle, ficolin-1-rich granule membrane, cytoplasmic region, tertiary granule membrane, extracellular exosome, plasma membrane raft, receptor complex, specific granule membrane, integrin alphaX-beta2 complex, integrin alphaM-beta2 complex, integrin alphaL-beta2 complex, membrane, cell surface, cell surface, cell surface, external side of plasma membrane, integrin complex, integrin complex, focal adhesion, plasma membrane, plasma membrane, GO:0050839, GO:0046872, GO:0038024, GO:0031072, GO:0030369, GO:0019901, GO:0005515, GO:0005178, GO:0005178, GO:0005178, GO:0001851, GO:0001540, GO:0001540, cell adhesion molecule binding, metal ion binding, cargo receptor activity, heat shock protein binding, ICAM-3 receptor activity, protein kinase binding, protein binding, integrin binding, integrin binding, integrin binding, complement component C3b binding, amyloid-beta binding, amyloid-beta binding, GO:2000363, GO:1990266, GO:1904996, GO:1901216, GO:0098742, GO:0098609, GO:0097242, GO:0090314, GO:0071404, GO:0051092, GO:0050900, GO:0050776, GO:0050730, GO:0045963, GO:0045766, GO:0045429, GO:0045123, GO:0043542, GO:0043315, GO:0043312, GO:0043113, GO:0035987, GO:0034142, GO:0034113, GO:0033627, GO:0032930, GO:0032930, GO:0031623, GO:0030593, GO:0030198, GO:0030101, GO:0019221, GO:0016477, GO:0008360, GO:0007568, GO:0007267, GO:0007229, GO:0007229, GO:0007229, GO:0007160, GO:0007160, GO:0007159, GO:0007155, GO:0006954, GO:0006915, GO:0006911, GO:0006898, GO:0002523, GO:0001774, positive regulation of prostaglandin-E synthase activity, neutrophil migration, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of neuron death, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, amyloid-beta clearance, positive regulation of protein targeting to membrane, cellular response to low-density lipoprotein particle stimulus, positive regulation of NF-kappaB transcription factor activity, leukocyte migration, regulation of immune response, regulation of peptidyl-tyrosine phosphorylation, negative regulation of dopamine metabolic process, positive regulation of angiogenesis, positive regulation of nitric oxide biosynthetic process, cellular extravasation, endothelial cell migration, positive regulation of neutrophil degranulation, neutrophil degranulation, receptor clustering, endodermal cell differentiation, toll-like receptor 4 signaling pathway, heterotypic cell-cell adhesion, cell adhesion mediated by integrin, positive regulation of superoxide anion generation, positive regulation of superoxide anion generation, receptor internalization, neutrophil chemotaxis, extracellular matrix organization, natural killer cell activation, cytokine-mediated signaling pathway, cell migration, regulation of cell shape, aging, cell-cell signaling, integrin-mediated signaling pathway, integrin-mediated signaling pathway, integrin-mediated signaling pathway, cell-matrix adhesion, cell-matrix adhesion, leukocyte cell-cell adhesion, cell adhesion, inflammatory response, apoptotic process, phagocytosis, engulfment, receptor-mediated endocytosis, leukocyte migration involved in inflammatory response, microglial cell activation, 12000 14372 19653 4656 8536 7642 5725 7723 7034 ENSG00000160256 chr21 44940010 44976989 + FAM207A protein_coding 85395 GO:0030688, GO:0030686, GO:0005730, preribosome, small subunit precursor, 90S preribosome, nucleolus, GO:0005515, protein binding, GO:0000462, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 32 52 38 36 55 27 46 37 38 ENSG00000160271 chr9 133097720 133149334 - RALGDS protein_coding Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]. 5900 GO:0005903, GO:0005829, GO:0005829, GO:0005634, brush border, cytosol, cytosol, nucleus, GO:0030695, GO:0030695, GO:0005515, GO:0005085, GTPase regulator activity, GTPase regulator activity, protein binding, guanyl-nucleotide exchange factor activity, GO:0050790, GO:0007265, regulation of catalytic activity, Ras protein signal transduction, 357 503 837 938 593 1762 1370 733 1340 ENSG00000160282 chr21 46136262 46155567 - FTCD protein_coding The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]. 10841 GO:0070062, GO:0030868, GO:0005886, GO:0005829, GO:0005829, GO:0005814, GO:0005794, GO:0005793, GO:0005783, GO:0005737, GO:0000139, GO:0000139, extracellular exosome, smooth endoplasmic reticulum membrane, plasma membrane, cytosol, cytosol, centriole, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, cytoplasm, Golgi membrane, Golgi membrane, GO:0030412, GO:0030409, GO:0030407, GO:0008017, GO:0008017, GO:0005542, GO:0005515, formimidoyltetrahydrofolate cyclodeaminase activity, glutamate formimidoyltransferase activity, formimidoyltransferase activity, microtubule binding, microtubule binding, folic acid binding, protein binding, GO:0035999, GO:0019557, GO:0019556, GO:0007010, GO:0006760, GO:0006548, tetrahydrofolate interconversion, histidine catabolic process to glutamate and formate, histidine catabolic process to glutamate and formamide, cytoskeleton organization, folic acid-containing compound metabolic process, histidine catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000160284 chr21 46161148 46184476 - SPATC1L protein_coding 84221 GO:0097224, GO:0005813, GO:0005575, sperm connecting piece, centrosome, cellular_component, GO:0034237, GO:0005515, GO:0003674, protein kinase A regulatory subunit binding, protein binding, molecular_function, GO:2000481, GO:0010739, GO:0008154, GO:0008150, GO:0007283, positive regulation of cAMP-dependent protein kinase activity, positive regulation of protein kinase A signaling, actin polymerization or depolymerization, biological_process, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000160285 chr21 46188141 46228824 - LSS protein_coding The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]. 4047 GO:0016020, GO:0005811, GO:0005811, GO:0005789, GO:0005789, membrane, lipid droplet, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0042300, GO:0005515, GO:0000250, GO:0000250, GO:0000250, GO:0000250, beta-amyrin synthase activity, protein binding, lanosterol synthase activity, lanosterol synthase activity, lanosterol synthase activity, lanosterol synthase activity, GO:0045540, GO:0031647, GO:0016104, GO:0006695, GO:0006695, GO:0006695, GO:0006694, regulation of cholesterol biosynthetic process, regulation of protein stability, triterpenoid biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, steroid biosynthetic process, 1 5 12 9 4 11 10 3 12 ENSG00000160293 chr9 133761894 133992604 - VAV2 protein_coding VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 7410 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0046872, GO:0005515, GO:0005154, GO:0005085, GO:0005085, GO:0001784, metal ion binding, protein binding, epidermal growth factor receptor binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, phosphotyrosine residue binding, GO:0051056, GO:0048013, GO:0048010, GO:0043552, GO:0043087, GO:0043065, GO:0038096, GO:0038095, GO:0030168, GO:0030032, GO:0016477, GO:0008361, GO:0008361, GO:0007264, GO:0007186, GO:0007165, GO:0001525, regulation of small GTPase mediated signal transduction, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of phosphatidylinositol 3-kinase activity, regulation of GTPase activity, positive regulation of apoptotic process, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, platelet activation, lamellipodium assembly, cell migration, regulation of cell size, regulation of cell size, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, signal transduction, angiogenesis, 7 5 14 11 7 11 19 19 6 ENSG00000160294 chr21 46235126 46286297 - MCM3AP protein_coding The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]. 8888 GO:0070390, GO:0070390, GO:0044615, GO:0031965, GO:0005829, GO:0005829, GO:0005737, GO:0005694, GO:0005654, GO:0005634, GO:0005634, transcription export complex 2, transcription export complex 2, nuclear pore nuclear basket, nuclear membrane, cytosol, cytosol, cytoplasm, chromosome, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0010484, GO:0005515, GO:0004402, GO:0003682, GO:0003676, histone binding, H3 histone acetyltransferase activity, protein binding, histone acetyltransferase activity, chromatin binding, nucleic acid binding, GO:0043966, GO:0034728, GO:0016973, GO:0016446, GO:0006406, histone H3 acetylation, nucleosome organization, poly(A)+ mRNA export from nucleus, somatic hypermutation of immunoglobulin genes, mRNA export from nucleus, 480 547 618 514 639 558 561 465 526 ENSG00000160298 chr21 46300181 46323875 - C21orf58 protein_coding 54058 2 4 7 17 7 14 9 4 9 ENSG00000160299 chr21 46324122 46445769 + PCNT protein_coding The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5116 GO:0034451, GO:0016020, GO:0005874, GO:0005829, GO:0005829, GO:0005814, GO:0005813, centriolar satellite, membrane, microtubule, cytosol, cytosol, centriole, centrosome, GO:0060090, GO:0005516, GO:0005515, molecular adaptor activity, calmodulin binding, protein binding, GO:0097711, GO:0090316, GO:0060271, GO:0010389, GO:0007165, GO:0007052, GO:0000226, GO:0000086, ciliary basal body-plasma membrane docking, positive regulation of intracellular protein transport, cilium assembly, regulation of G2/M transition of mitotic cell cycle, signal transduction, mitotic spindle organization, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 78 79 134 173 72 129 138 66 122 ENSG00000160305 chr21 46458899 46569852 + DIP2A protein_coding The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 23181 GO:0016020, GO:0009986, GO:0009986, GO:0005634, membrane, cell surface, cell surface, nucleus, GO:0005515, protein binding, GO:0010629, GO:0007275, negative regulation of gene expression, multicellular organism development, 626 809 907 731 1127 994 801 805 760 ENSG00000160307 chr21 46598962 46605208 - S100B protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008]. 6285 GO:0048471, GO:0043231, GO:0043025, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0005576, GO:0001726, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, neuronal cell body, cytosol, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular space, extracellular region, ruffle, GO:0050786, GO:0050786, GO:0048306, GO:0048306, GO:0048156, GO:0044548, GO:0044548, GO:0042803, GO:0042803, GO:0042802, GO:0008270, GO:0005515, GO:0005509, GO:0005509, RAGE receptor binding, RAGE receptor binding, calcium-dependent protein binding, calcium-dependent protein binding, tau protein binding, S100 protein binding, S100 protein binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, zinc ion binding, protein binding, calcium ion binding, calcium ion binding, GO:2001015, GO:0071456, GO:0060291, GO:0051597, GO:0051384, GO:0048708, GO:0048168, GO:0045087, GO:0043123, GO:0043123, GO:0043065, GO:0031643, GO:0008360, GO:0008284, GO:0007613, GO:0007611, GO:0007417, GO:0007409, negative regulation of skeletal muscle cell differentiation, cellular response to hypoxia, long-term synaptic potentiation, response to methylmercury, response to glucocorticoid, astrocyte differentiation, regulation of neuronal synaptic plasticity, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, positive regulation of myelination, regulation of cell shape, positive regulation of cell population proliferation, memory, learning or memory, central nervous system development, axonogenesis, 3 5 2 2 12 16 3 15 8 ENSG00000160310 chr21 46635167 46665124 + PRMT2 protein_coding 3275 GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0050681, GO:0046966, GO:0044877, GO:0042975, GO:0042974, GO:0042803, GO:0042054, GO:0035242, GO:0033142, GO:0030331, GO:0030331, GO:0016274, GO:0008469, GO:0005515, GO:0003713, androgen receptor binding, thyroid hormone receptor binding, protein-containing complex binding, peroxisome proliferator activated receptor binding, retinoic acid receptor binding, protein homodimerization activity, histone methyltransferase activity, protein-arginine omega-N asymmetric methyltransferase activity, progesterone receptor binding, estrogen receptor binding, estrogen receptor binding, protein-arginine N-methyltransferase activity, histone-arginine N-methyltransferase activity, protein binding, transcription coactivator activity, GO:2000134, GO:0060765, GO:0048588, GO:0045893, GO:0045892, GO:0043065, GO:0034969, GO:0032088, GO:0019919, GO:0016571, GO:0016571, GO:0007165, GO:0006479, negative regulation of G1/S transition of mitotic cell cycle, regulation of androgen receptor signaling pathway, developmental cell growth, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of apoptotic process, histone arginine methylation, negative regulation of NF-kappaB transcription factor activity, peptidyl-arginine methylation, to asymmetrical-dimethyl arginine, histone methylation, histone methylation, signal transduction, protein methylation, 709 650 762 492 620 730 519 569 530 ENSG00000160318 chr19 51367098 51369003 - CLDND2 protein_coding 125875 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, 2 9 3 4 6 13 7 4 2 ENSG00000160321 chr19 21932958 22010949 - ZNF208 protein_coding Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009]. 7757 GO:0005634, nucleus, GO:0008270, GO:0001228, GO:0000978, zinc ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 260 4 8 114 2 20 155 3 9 ENSG00000160323 chr9 133414358 133459402 + ADAMTS13 protein_coding This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 11093 GO:0031012, GO:0031012, GO:0009986, GO:0005788, GO:0005615, extracellular matrix, extracellular matrix, cell surface, endoplasmic reticulum lumen, extracellular space, GO:0008270, GO:0008237, GO:0005515, GO:0005509, GO:0005178, GO:0004222, zinc ion binding, metallopeptidase activity, protein binding, calcium ion binding, integrin binding, metalloendopeptidase activity, GO:0071356, GO:0071353, GO:0071346, GO:0071222, GO:0043171, GO:0035864, GO:0030198, GO:0030168, GO:0016485, GO:0014075, GO:0009636, GO:0009100, GO:0007229, GO:0007160, GO:0006508, cellular response to tumor necrosis factor, cellular response to interleukin-4, cellular response to interferon-gamma, cellular response to lipopolysaccharide, peptide catabolic process, response to potassium ion, extracellular matrix organization, platelet activation, protein processing, response to amine, response to toxic substance, glycoprotein metabolic process, integrin-mediated signaling pathway, cell-matrix adhesion, proteolysis, 0 3 0 3 2 0 1 1 2 ENSG00000160325 chr9 133459965 133470848 + CACFD1 protein_coding 11094 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0016192, GO:0008150, vesicle-mediated transport, biological_process, 9 11 23 6 10 12 9 10 6 ENSG00000160326 chr9 133471095 133479137 - SLC2A6 protein_coding Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]. 11182 GO:0016021, GO:0016020, GO:0005886, GO:0005765, integral component of membrane, membrane, plasma membrane, lysosomal membrane, GO:0033300, GO:0005515, GO:0005355, GO:0005355, GO:0005355, GO:0005353, dehydroascorbic acid transmembrane transporter activity, protein binding, glucose transmembrane transporter activity, glucose transmembrane transporter activity, glucose transmembrane transporter activity, fructose transmembrane transporter activity, GO:1904659, GO:1904659, GO:0070837, GO:0015755, GO:0008645, GO:0006110, glucose transmembrane transport, glucose transmembrane transport, dehydroascorbic acid transport, fructose transmembrane transport, hexose transmembrane transport, regulation of glycolytic process, 4 1 15 12 15 30 15 18 18 ENSG00000160336 chr19 53431993 53458261 + ZNF761 protein_coding 388561 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 44 43 59 75 45 65 84 14 25 ENSG00000160339 chr9 134880812 134887520 + FCN2 protein_coding The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 2220 GO:0072562, GO:0070062, GO:0062023, GO:0005615, GO:0005581, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, extracellular space, collagen trimer, extracellular region, GO:2001065, GO:0097367, GO:0048306, GO:0046872, GO:0043394, GO:0005515, GO:0005102, GO:0003823, GO:0003823, mannan binding, carbohydrate derivative binding, calcium-dependent protein binding, metal ion binding, proteoglycan binding, protein binding, signaling receptor binding, antigen binding, antigen binding, GO:0050830, GO:0050829, GO:0043654, GO:0008228, GO:0006956, GO:0001867, GO:0001867, GO:0001867, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, recognition of apoptotic cell, opsonization, complement activation, complement activation, lectin pathway, complement activation, lectin pathway, complement activation, lectin pathway, 0 0 0 0 0 0 0 0 0 ENSG00000160345 chr9 135495181 135501734 - C9orf116 protein_coding 138162 GO:0005634, nucleus, GO:0005515, protein binding, GO:0071494, GO:0010468, GO:0007368, GO:0006974, cellular response to UV-C, regulation of gene expression, determination of left/right symmetry, cellular response to DNA damage stimulus, 0 0 0 0 0 1 0 0 0 ENSG00000160349 chr9 135521438 135526532 + LCN1 protein_coding This gene encodes a member of the lipocalin family of small secretory proteins. Lipocalins are extracellular transport proteins that bind to a variety of hydrophobic ligands. The encoded protein is the primary lipid binding protein in tears and is overproduced in response to multiple stimuli including infection and stress. The encoded protein may be a marker for chromosome aneuploidy as well as an autoantigen in Sjogren's syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and two pseudogenes of this gene are also located on the long arm of chromosome 9. [provided by RefSeq, Nov 2011]. 3933 GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular space, extracellular region, GO:0036094, GO:0031404, GO:0008270, GO:0005549, GO:0005515, GO:0005102, GO:0004869, small molecule binding, chloride ion binding, zinc ion binding, odorant binding, protein binding, signaling receptor binding, cysteine-type endopeptidase inhibitor activity, GO:0050909, GO:0050896, GO:0015909, GO:0010951, GO:0006508, GO:0001895, sensory perception of taste, response to stimulus, long-chain fatty acid transport, negative regulation of endopeptidase activity, proteolysis, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000160352 chr19 21082159 21125270 + ZNF714 protein_coding 148206 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 39 42 52 54 42 42 48 31 39 ENSG00000160360 chr9 136327476 136359605 + GPSM1 protein_coding G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 26086 GO:0032991, GO:0005938, GO:0005886, GO:0005829, GO:0005789, GO:0000139, protein-containing complex, cell cortex, plasma membrane, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, GO:0005092, protein binding, GDP-dissociation inhibitor activity, GO:1905098, GO:0034260, GO:0030154, GO:0016239, GO:0007399, negative regulation of guanyl-nucleotide exchange factor activity, negative regulation of GTPase activity, cell differentiation, positive regulation of macroautophagy, nervous system development, 2 3 6 14 0 10 8 3 5 ENSG00000160392 chr19 40319536 40348527 - C19orf47 protein_coding 126526 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0005515, protein binding, 46 46 32 37 54 24 42 23 23 ENSG00000160396 chr19 40379271 40390187 - HIPK4 protein_coding This gene encodes a member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016]. 147746 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004713, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine kinase activity, GO:1901796, GO:0046777, GO:0018108, GO:0018107, GO:0018105, GO:0016572, regulation of signal transduction by p53 class mediator, protein autophosphorylation, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, histone phosphorylation, 0 0 0 0 0 0 0 1 0 ENSG00000160401 chr9 127706989 127716002 + CFAP157 protein_coding 286207 GO:0043231, GO:0036064, GO:0036064, GO:0005886, GO:0005829, intracellular membrane-bounded organelle, ciliary basal body, ciliary basal body, plasma membrane, cytosol, GO:0008017, GO:0008017, microtubule binding, microtubule binding, GO:0007288, GO:0007288, sperm axoneme assembly, sperm axoneme assembly, 4 7 9 8 12 11 4 9 19 ENSG00000160404 chr9 127731524 127735317 - TOR2A protein_coding This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]. 27433 GO:0005788, GO:0005788, GO:0005635, endoplasmic reticulum lumen, endoplasmic reticulum lumen, nuclear envelope, GO:0042802, GO:0016887, GO:0005524, identical protein binding, ATPase activity, ATP binding, GO:0051085, chaperone cofactor-dependent protein refolding, 166 220 192 69 144 118 117 151 103 ENSG00000160408 chr9 127885321 127905408 - ST6GALNAC6 protein_coding ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]. 30815 GO:0016021, GO:0005886, GO:0005737, GO:0000139, integral component of membrane, plasma membrane, cytoplasm, Golgi membrane, GO:0008373, GO:0008373, GO:0005515, GO:0001665, GO:0001665, sialyltransferase activity, sialyltransferase activity, protein binding, alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity, alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity, GO:0009988, GO:0009312, GO:0009311, GO:0009100, GO:0006687, GO:0006677, GO:0006486, GO:0001574, GO:0001574, cell-cell recognition, oligosaccharide biosynthetic process, oligosaccharide metabolic process, glycoprotein metabolic process, glycosphingolipid metabolic process, glycosylceramide metabolic process, protein glycosylation, ganglioside biosynthetic process, ganglioside biosynthetic process, 0 0 2 0 0 0 6 0 0 ENSG00000160410 chr19 40576851 40591399 + SHKBP1 protein_coding 92799 GO:0005764, lysosome, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0051260, GO:0045742, GO:0045742, protein homooligomerization, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, 4353 4196 4034 2665 3781 2973 3104 2807 2639 ENSG00000160439 chr19 55039108 55071291 - RDH13 protein_coding This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. 112724 GO:0005743, GO:0005743, GO:0005743, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, GO:0052650, GO:0052650, GO:0052650, NADP-retinol dehydrogenase activity, NADP-retinol dehydrogenase activity, NADP-retinol dehydrogenase activity, GO:0055114, GO:0042574, GO:0042574, GO:0042572, GO:0042462, GO:0010842, GO:0009644, oxidation-reduction process, retinal metabolic process, retinal metabolic process, retinol metabolic process, eye photoreceptor cell development, retina layer formation, response to high light intensity, 0 0 0 0 0 0 0 0 0 ENSG00000160445 chr9 128729786 128772414 - ZER1 protein_coding This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]. 10444 GO:0031462, GO:0031462, Cul2-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, GO:0032436, GO:0006515, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein quality control for misfolded or incompletely synthesized proteins, 954 1136 1062 532 774 703 648 665 526 ENSG00000160446 chr9 128720869 128724127 - ZDHHC12 protein_coding 84885 GO:0016021, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0019706, GO:0019706, GO:0016409, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, GO:0097116, GO:0032230, GO:0018345, GO:0018230, GO:0018230, GO:0006612, gephyrin clustering involved in postsynaptic density assembly, positive regulation of synaptic transmission, GABAergic, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 168 150 176 63 100 81 86 103 111 ENSG00000160447 chr9 128702523 128720918 + PKN3 protein_coding 29941 GO:0048471, GO:0005794, GO:0005634, perinuclear region of cytoplasm, Golgi apparatus, nucleus, GO:0031267, GO:0005524, GO:0005515, GO:0004698, GO:0004674, GO:0004672, small GTPase binding, ATP binding, protein binding, calcium-dependent protein kinase C activity, protein serine/threonine kinase activity, protein kinase activity, GO:0035556, GO:0018105, GO:0010631, GO:0007165, GO:0006468, intracellular signal transduction, peptidyl-serine phosphorylation, epithelial cell migration, signal transduction, protein phosphorylation, 10 9 17 2 11 17 11 8 3 ENSG00000160460 chr19 40466241 40576464 + SPTBN4 protein_coding Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 57731 GO:0070852, GO:0070062, GO:0043203, GO:0043194, GO:0043025, GO:0033270, GO:0033268, GO:0016605, GO:0016363, GO:0016020, GO:0014704, GO:0008091, GO:0005912, GO:0005886, GO:0005884, GO:0005829, GO:0005737, cell body fiber, extracellular exosome, axon hillock, axon initial segment, neuronal cell body, paranode region of axon, node of Ranvier, PML body, nuclear matrix, membrane, intercalated disc, spectrin, adherens junction, plasma membrane, actin filament, cytosol, cytoplasm, GO:0106006, GO:0030507, GO:0030506, GO:0019902, GO:0005543, GO:0005515, GO:0005200, GO:0003779, cytoskeletal protein-membrane anchor activity, spectrin binding, ankyrin binding, phosphatase binding, phospholipid binding, protein binding, structural constituent of cytoskeleton, actin binding, GO:0072659, GO:0061337, GO:0051693, GO:0045162, GO:0040018, GO:0033135, GO:0021952, GO:0019226, GO:0016192, GO:0010459, GO:0009566, GO:0007628, GO:0007605, GO:0007411, GO:0007409, GO:0007010, GO:0006888, GO:0002028, GO:0000165, protein localization to plasma membrane, cardiac conduction, actin filament capping, clustering of voltage-gated sodium channels, positive regulation of multicellular organism growth, regulation of peptidyl-serine phosphorylation, central nervous system projection neuron axonogenesis, transmission of nerve impulse, vesicle-mediated transport, negative regulation of heart rate, fertilization, adult walking behavior, sensory perception of sound, axon guidance, axonogenesis, cytoskeleton organization, endoplasmic reticulum to Golgi vesicle-mediated transport, regulation of sodium ion transport, MAPK cascade, 1 4 2 0 1 2 0 1 8 ENSG00000160469 chr19 55282072 55312533 + BRSK1 protein_coding 84446 GO:0150034, GO:0048786, GO:0030054, GO:0008021, GO:0008021, GO:0005813, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, distal axon, presynaptic active zone, cell junction, synaptic vesicle, synaptic vesicle, centrosome, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0050321, GO:0050321, GO:0050321, GO:0050321, GO:0048156, GO:0043015, GO:0019901, GO:0005524, GO:0004674, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, gamma-tubulin binding, protein kinase binding, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:2000807, GO:0099504, GO:0090176, GO:0051298, GO:0050770, GO:0048167, GO:0042149, GO:0035556, GO:0030182, GO:0030010, GO:0030010, GO:0018105, GO:0010975, GO:0010212, GO:0009411, GO:0008306, GO:0007409, GO:0007409, GO:0007269, GO:0007095, GO:0006974, GO:0006468, GO:0006468, GO:0006468, GO:0000086, regulation of synaptic vesicle clustering, synaptic vesicle cycle, microtubule cytoskeleton organization involved in establishment of planar polarity, centrosome duplication, regulation of axonogenesis, regulation of synaptic plasticity, cellular response to glucose starvation, intracellular signal transduction, neuron differentiation, establishment of cell polarity, establishment of cell polarity, peptidyl-serine phosphorylation, regulation of neuron projection development, response to ionizing radiation, response to UV, associative learning, axonogenesis, axonogenesis, neurotransmitter secretion, mitotic G2 DNA damage checkpoint, cellular response to DNA damage stimulus, protein phosphorylation, protein phosphorylation, protein phosphorylation, G2/M transition of mitotic cell cycle, 0 0 2 3 1 6 8 0 8 ENSG00000160471 chr19 55349306 55354814 - COX6B2 protein_coding 125965 GO:0030061, GO:0030061, GO:0005739, mitochondrial crista, mitochondrial crista, mitochondrion, GO:0005515, protein binding, GO:0006119, oxidative phosphorylation, 1 1 0 8 0 0 0 0 8 ENSG00000160472 chr19 55376836 55378244 + TMEM190 protein_coding 147744 GO:0016021, GO:0005634, GO:0002079, integral component of membrane, nucleus, inner acrosomal membrane, GO:0043621, GO:0005515, protein self-association, protein binding, GO:0002244, hematopoietic progenitor cell differentiation, 0 0 0 0 1 0 0 0 0 ENSG00000160505 chr19 55836578 55881854 + NLRP4 protein_coding The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 2016]. 147945 GO:0005829, cytosol, GO:0005524, ATP binding, GO:0032479, GO:0006954, regulation of type I interferon production, inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000160539 chr9 131289459 131359022 + PLPP7 protein_coding 84814 GO:0016021, GO:0016020, GO:0005789, GO:0005635, integral component of membrane, membrane, endoplasmic reticulum membrane, nuclear envelope, GO:0042392, sphingosine-1-phosphate phosphatase activity, GO:0016311, GO:0010832, dephosphorylation, negative regulation of myotube differentiation, 0 0 1 0 0 0 0 0 0 ENSG00000160551 chr17 29390464 29551904 + TAOK1 protein_coding 57551 GO:0070062, GO:0048471, GO:0015630, GO:0005829, GO:0005737, extracellular exosome, perinuclear region of cytoplasm, microtubule cytoskeleton, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0050321, GO:0048487, GO:0048156, GO:0043539, GO:0043014, GO:0016740, GO:0016301, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0004672, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, beta-tubulin binding, tau protein binding, protein serine/threonine kinase activator activity, alpha-tubulin binding, transferase activity, kinase activity, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, GO:1901985, GO:0097194, GO:0097194, GO:0070507, GO:0070050, GO:0051493, GO:0048812, GO:0046777, GO:0046330, GO:0032956, GO:0032874, GO:0032147, GO:0031098, GO:0023014, GO:0016310, GO:0007257, GO:0007095, GO:0007026, GO:0006974, GO:0006468, GO:0006281, GO:0000226, GO:0000187, GO:0000165, positive regulation of protein acetylation, execution phase of apoptosis, execution phase of apoptosis, regulation of microtubule cytoskeleton organization, neuron cellular homeostasis, regulation of cytoskeleton organization, neuron projection morphogenesis, protein autophosphorylation, positive regulation of JNK cascade, regulation of actin cytoskeleton organization, positive regulation of stress-activated MAPK cascade, activation of protein kinase activity, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, phosphorylation, activation of JUN kinase activity, mitotic G2 DNA damage checkpoint, negative regulation of microtubule depolymerization, cellular response to DNA damage stimulus, protein phosphorylation, DNA repair, microtubule cytoskeleton organization, activation of MAPK activity, MAPK cascade, 2279 2536 3101 900 1551 1389 1209 1211 1238 ENSG00000160563 chr9 131860107 132079908 - MED27 protein_coding The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]. 9442 GO:0016592, GO:0005829, GO:0005730, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000151, mediator complex, cytosol, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0061630, GO:0005515, GO:0003713, ubiquitin protein ligase activity, protein binding, transcription coactivator activity, GO:1903508, GO:0019827, GO:0016567, GO:0006367, GO:0006357, positive regulation of nucleic acid-templated transcription, stem cell population maintenance, protein ubiquitination, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 28 55 45 25 32 60 37 41 48 ENSG00000160570 chr19 42198598 42220140 - DEDD2 protein_coding This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 162989 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:0030159, GO:0005515, GO:0003677, signaling receptor complex adaptor activity, protein binding, DNA binding, GO:2001238, GO:0045892, GO:0035556, GO:0030262, GO:0019725, GO:0016075, GO:0008625, GO:0008625, GO:0006396, positive regulation of extrinsic apoptotic signaling pathway, negative regulation of transcription, DNA-templated, intracellular signal transduction, apoptotic nuclear changes, cellular homeostasis, rRNA catabolic process, extrinsic apoptotic signaling pathway via death domain receptors, extrinsic apoptotic signaling pathway via death domain receptors, RNA processing, 2890 3204 4129 2021 2869 1897 1946 1960 1530 ENSG00000160584 chr11 116843402 117098437 - SIK3 protein_coding 23387 GO:0005737, cytoplasm, GO:0106311, GO:0106310, GO:0050321, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:1904515, GO:1904263, GO:0035556, GO:0006468, GO:0000226, positive regulation of TORC2 signaling, positive regulation of TORC1 signaling, intracellular signal transduction, protein phosphorylation, microtubule cytoskeleton organization, 1320 1324 1397 1024 1355 1115 1144 1005 942 ENSG00000160588 chr11 118226690 118252350 - MPZL3 protein_coding 196264 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0042633, GO:0030198, GO:0007155, hair cycle, extracellular matrix organization, cell adhesion, 2140 1545 3328 546 1016 753 674 824 671 ENSG00000160593 chr11 118193740 118225094 - JAML protein_coding 120425 GO:0016021, GO:0005923, GO:0005886, GO:0005886, integral component of membrane, bicellular tight junction, plasma membrane, plasma membrane, GO:0050839, GO:0042803, GO:0005178, cell adhesion molecule binding, protein homodimerization activity, integrin binding, GO:0072672, GO:0060054, GO:0050900, GO:0050776, GO:0046629, GO:0035696, GO:0030593, GO:0007157, GO:0007157, neutrophil extravasation, positive regulation of epithelial cell proliferation involved in wound healing, leukocyte migration, regulation of immune response, gamma-delta T cell activation, monocyte extravasation, neutrophil chemotaxis, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, 12323 10532 17672 11097 15502 13579 11187 11165 11199 ENSG00000160602 chr17 28725897 28743455 + NEK8 protein_coding This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]. 284086 GO:0097546, GO:0097543, GO:0005929, GO:0005929, GO:0005929, GO:0005813, GO:0005737, GO:0005634, ciliary base, ciliary inversin compartment, cilium, cilium, cilium, centrosome, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0035330, GO:0009887, GO:0009887, GO:0007507, GO:0007368, GO:0007059, GO:0006468, regulation of hippo signaling, animal organ morphogenesis, animal organ morphogenesis, heart development, determination of left/right symmetry, chromosome segregation, protein phosphorylation, 16 24 15 26 17 36 21 16 16 ENSG00000160606 chr17 28724348 28727935 - TLCD1 protein_coding 116238 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0097035, GO:0097035, GO:0071709, GO:0071709, GO:0055091, GO:0055091, GO:0055088, GO:0007009, GO:0007009, regulation of membrane lipid distribution, regulation of membrane lipid distribution, membrane assembly, membrane assembly, phospholipid homeostasis, phospholipid homeostasis, lipid homeostasis, plasma membrane organization, plasma membrane organization, 1 0 0 0 1 0 0 0 0 ENSG00000160613 chr11 117204337 117232525 - PCSK7 protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]. 9159 GO:0030173, GO:0030173, GO:0016020, GO:0005802, integral component of Golgi membrane, integral component of Golgi membrane, membrane, trans-Golgi network, GO:0008233, GO:0005515, GO:0004252, peptidase activity, protein binding, serine-type endopeptidase activity, GO:0016486, GO:0016485, GO:0016485, peptide hormone processing, protein processing, protein processing, 565 662 775 769 778 931 811 597 725 ENSG00000160633 chr19 5623035 5668478 + SAFB protein_coding This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]. 6294 GO:0005654, GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0043565, GO:0005515, GO:0003723, GO:0003690, GO:0003682, GO:0000978, sequence-specific DNA binding, protein binding, RNA binding, double-stranded DNA binding, chromatin binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050684, GO:0045944, GO:0042445, GO:0040008, GO:0030520, GO:0006357, GO:0006325, regulation of mRNA processing, positive regulation of transcription by RNA polymerase II, hormone metabolic process, regulation of growth, intracellular estrogen receptor signaling pathway, regulation of transcription by RNA polymerase II, chromatin organization, 1669 1559 2570 1235 1620 1864 1294 1191 1476 ENSG00000160654 chr11 118344344 118355161 + CD3G protein_coding The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]. 917 GO:0042105, GO:0042101, GO:0030665, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005829, alpha-beta T cell receptor complex, T cell receptor complex, clathrin-coated vesicle membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0046982, GO:0042802, GO:0042608, GO:0030159, GO:0005515, GO:0004888, GO:0004888, protein heterodimerization activity, identical protein binding, T cell receptor binding, signaling receptor complex adaptor activity, protein binding, transmembrane signaling receptor activity, transmembrane signaling receptor activity, GO:0070228, GO:0065003, GO:0061024, GO:0050852, GO:0050776, GO:0045059, GO:0042110, GO:0038096, GO:0015031, GO:0007166, GO:0007166, GO:0007163, GO:0002250, regulation of lymphocyte apoptotic process, protein-containing complex assembly, membrane organization, T cell receptor signaling pathway, regulation of immune response, positive thymic T cell selection, T cell activation, Fc-gamma receptor signaling pathway involved in phagocytosis, protein transport, cell surface receptor signaling pathway, cell surface receptor signaling pathway, establishment or maintenance of cell polarity, adaptive immune response, 58 37 161 121 63 165 122 81 180 ENSG00000160678 chr1 153627926 153632039 + S100A1 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]. 6271 GO:0043005, GO:0032991, GO:0031430, GO:0030018, GO:0016529, GO:0016529, GO:0005737, GO:0005634, GO:0005576, neuron projection, protein-containing complex, M band, Z disc, sarcoplasmic reticulum, sarcoplasmic reticulum, cytoplasm, nucleus, extracellular region, GO:0051117, GO:0048306, GO:0044548, GO:0044548, GO:0042803, GO:0042802, GO:0005515, GO:0005509, ATPase binding, calcium-dependent protein binding, S100 protein binding, S100 protein binding, protein homodimerization activity, identical protein binding, protein binding, calcium ion binding, GO:1903672, GO:1901387, GO:0051000, GO:0035556, GO:0021762, GO:0008016, GO:0002224, GO:0000122, positive regulation of sprouting angiogenesis, positive regulation of voltage-gated calcium channel activity, positive regulation of nitric-oxide synthase activity, intracellular signal transduction, substantia nigra development, regulation of heart contraction, toll-like receptor signaling pathway, negative regulation of transcription by RNA polymerase II, 0 6 7 6 10 12 12 9 6 ENSG00000160679 chr1 153633982 153646306 + CHTOP protein_coding This gene encodes a small nuclear protein that is characterized by an arginine and glycine rich region. This protein may have an important role in the regulation of fetal globin gene expression and in the activation of estrogen-responsive genes. A recent study reported that this protein binds 5-hydroxymethylcytosine (5hmC) and associates with an arginine methyltransferase complex (methylosome), which promotes methylation of arginine 3 of histone H4 (H4R3) and activation of genes involved in glioblastomagenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2015]. 26097 GO:0036464, GO:0016607, GO:0005730, GO:0005654, GO:0000346, cytoplasmic ribonucleoprotein granule, nuclear speck, nucleolus, nucleoplasm, transcription export complex, GO:0008327, GO:0005515, GO:0003723, methyl-CpG binding, protein binding, RNA binding, GO:0051096, GO:0032781, GO:0031124, GO:0031062, GO:0008284, GO:0006406, GO:0006406, GO:0006405, positive regulation of helicase activity, positive regulation of ATPase activity, mRNA 3'-end processing, positive regulation of histone methylation, positive regulation of cell population proliferation, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 1160 1161 1327 918 1156 1025 898 806 836 ENSG00000160683 chr11 118883766 118897799 + CXCR5 protein_coding This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 643 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019957, GO:0016494, GO:0016493, GO:0005515, GO:0004930, C-C chemokine binding, C-X-C chemokine receptor activity, C-C chemokine receptor activity, protein binding, G protein-coupled receptor activity, GO:0070098, GO:0060326, GO:0048535, GO:0042113, GO:0032467, GO:0030595, GO:0019722, GO:0007204, GO:0007186, GO:0006955, chemokine-mediated signaling pathway, cell chemotaxis, lymph node development, B cell activation, positive regulation of cytokinesis, leukocyte chemotaxis, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, 91 101 188 138 70 110 125 49 106 ENSG00000160685 chr1 155002630 155018522 + ZBTB7B protein_coding This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]. 51043 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:1990837, GO:0046872, GO:0042826, GO:0042803, GO:0005515, GO:0001228, GO:0000987, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, histone deacetylase binding, protein homodimerization activity, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000640, GO:2000320, GO:1990845, GO:0120162, GO:0090336, GO:0051141, GO:0046628, GO:0043377, GO:0043372, GO:0032868, GO:0032620, GO:0031065, GO:0010628, GO:0010628, GO:0007595, GO:0007398, GO:0006366, GO:0006357, GO:0001865, GO:0000122, positive regulation of SREBP signaling pathway, negative regulation of T-helper 17 cell differentiation, adaptive thermogenesis, positive regulation of cold-induced thermogenesis, positive regulation of brown fat cell differentiation, negative regulation of NK T cell proliferation, positive regulation of insulin receptor signaling pathway, negative regulation of CD8-positive, alpha-beta T cell differentiation, positive regulation of CD4-positive, alpha-beta T cell differentiation, response to insulin, interleukin-17 production, positive regulation of histone deacetylation, positive regulation of gene expression, positive regulation of gene expression, lactation, ectoderm development, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, NK T cell differentiation, negative regulation of transcription by RNA polymerase II, 4857 4668 6013 1663 2788 2641 1846 2159 2299 ENSG00000160688 chr1 154983338 154993111 + FLAD1 protein_coding This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 80308 GO:0005886, GO:0005829, GO:0005829, GO:0005759, plasma membrane, cytosol, cytosol, mitochondrial matrix, GO:0042802, GO:0005524, GO:0005515, GO:0003919, GO:0003919, identical protein binding, ATP binding, protein binding, FMN adenylyltransferase activity, FMN adenylyltransferase activity, GO:0006771, GO:0006747, GO:0006747, riboflavin metabolic process, FAD biosynthetic process, FAD biosynthetic process, 45 37 48 69 81 114 56 61 71 ENSG00000160691 chr1 154962298 154974395 - SHC1 protein_coding This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 6464 GO:0070435, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005759, Shc-EGFR complex, plasma membrane, plasma membrane, plasma membrane, cytosol, mitochondrial matrix, GO:0048408, GO:0046875, GO:0030971, GO:0019901, GO:0005543, GO:0005515, GO:0005168, GO:0005159, GO:0005158, GO:0005154, GO:0005068, GO:0001784, epidermal growth factor binding, ephrin receptor binding, receptor tyrosine kinase binding, protein kinase binding, phospholipid binding, protein binding, neurotrophin TRKA receptor binding, insulin-like growth factor receptor binding, insulin receptor binding, epidermal growth factor receptor binding, transmembrane receptor protein tyrosine kinase adaptor activity, phosphotyrosine residue binding, GO:0098609, GO:0071363, GO:0070374, GO:0050900, GO:0046579, GO:0045893, GO:0045892, GO:0043410, GO:0043066, GO:0042742, GO:0040008, GO:0038128, GO:0038110, GO:0038095, GO:0036498, GO:0035723, GO:0031532, GO:0019221, GO:0016032, GO:0008286, GO:0008286, GO:0008286, GO:0008284, GO:0008284, GO:0007507, GO:0007411, GO:0007265, GO:0007176, GO:0007173, GO:0007173, GO:0007169, GO:0001525, GO:0000187, GO:0000187, GO:0000187, GO:0000165, GO:0000165, cell-cell adhesion, cellular response to growth factor stimulus, positive regulation of ERK1 and ERK2 cascade, leukocyte migration, positive regulation of Ras protein signal transduction, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of MAPK cascade, negative regulation of apoptotic process, defense response to bacterium, regulation of growth, ERBB2 signaling pathway, interleukin-2-mediated signaling pathway, Fc-epsilon receptor signaling pathway, IRE1-mediated unfolded protein response, interleukin-15-mediated signaling pathway, actin cytoskeleton reorganization, cytokine-mediated signaling pathway, viral process, insulin receptor signaling pathway, insulin receptor signaling pathway, insulin receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, heart development, axon guidance, Ras protein signal transduction, regulation of epidermal growth factor-activated receptor activity, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, angiogenesis, activation of MAPK activity, activation of MAPK activity, activation of MAPK activity, MAPK cascade, MAPK cascade, 863 877 1014 873 1057 897 931 704 703 ENSG00000160695 chr11 119067692 119081978 + VPS11 protein_coding Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 55823 GO:0031902, GO:0030897, GO:0030897, GO:0030139, GO:0030136, GO:0005776, GO:0005770, GO:0005770, GO:0005769, GO:0005768, GO:0005768, GO:0005765, GO:0005764, GO:0005764, late endosome membrane, HOPS complex, HOPS complex, endocytic vesicle, clathrin-coated vesicle, autophagosome, late endosome, late endosome, early endosome, endosome, endosome, lysosomal membrane, lysosome, lysosome, GO:0046872, GO:0030674, GO:0019905, GO:0019904, GO:0005515, GO:0000166, metal ion binding, protein-macromolecule adaptor activity, syntaxin binding, protein domain specific binding, protein binding, nucleotide binding, GO:2000643, GO:1903955, GO:1903364, GO:1902115, GO:0035542, GO:0034058, GO:0031647, GO:0008333, GO:0007033, GO:0007032, GO:0006914, GO:0006904, GO:0006886, positive regulation of early endosome to late endosome transport, positive regulation of protein targeting to mitochondrion, positive regulation of cellular protein catabolic process, regulation of organelle assembly, regulation of SNARE complex assembly, endosomal vesicle fusion, regulation of protein stability, endosome to lysosome transport, vacuole organization, endosome organization, autophagy, vesicle docking involved in exocytosis, intracellular protein transport, 155 189 178 509 451 372 390 322 240 ENSG00000160703 chr11 119166568 119184016 + NLRX1 protein_coding The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2013]. 79671 GO:0030054, GO:0005886, GO:0005741, GO:0005739, GO:0005739, cell junction, plasma membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0050728, GO:0045824, GO:0045087, GO:0043124, GO:0039536, GO:0035556, GO:0032715, GO:0032688, GO:0032480, GO:0016032, negative regulation of inflammatory response, negative regulation of innate immune response, innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of RIG-I signaling pathway, intracellular signal transduction, negative regulation of interleukin-6 production, negative regulation of interferon-beta production, negative regulation of type I interferon production, viral process, 212 169 258 86 112 119 140 111 120 ENSG00000160710 chr1 154582057 154628013 - ADAR protein_coding This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]. 103 GO:0044530, GO:0016020, GO:0005737, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, supraspliceosomal complex, membrane, cytoplasm, cytoplasm, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0008251, GO:0005515, GO:0003726, GO:0003726, GO:0003726, GO:0003725, GO:0003723, GO:0003677, metal ion binding, tRNA-specific adenosine deaminase activity, protein binding, double-stranded RNA adenosine deaminase activity, double-stranded RNA adenosine deaminase activity, double-stranded RNA adenosine deaminase activity, double-stranded RNA binding, RNA binding, DNA binding, GO:1900369, GO:0098586, GO:0061484, GO:0060339, GO:0060337, GO:0060216, GO:0051607, GO:0045087, GO:0045070, GO:0045070, GO:0044387, GO:0044387, GO:0043066, GO:0035455, GO:0035280, GO:0031054, GO:0030218, GO:0016553, GO:0009615, GO:0006397, GO:0006396, GO:0006382, GO:0006382, GO:0006382, GO:0006382, GO:0002566, GO:0002244, GO:0001649, negative regulation of RNA interference, cellular response to virus, hematopoietic stem cell homeostasis, negative regulation of type I interferon-mediated signaling pathway, type I interferon signaling pathway, definitive hemopoiesis, defense response to virus, innate immune response, positive regulation of viral genome replication, positive regulation of viral genome replication, negative regulation of protein kinase activity by regulation of protein phosphorylation, negative regulation of protein kinase activity by regulation of protein phosphorylation, negative regulation of apoptotic process, response to interferon-alpha, miRNA loading onto RISC involved in gene silencing by miRNA, pre-miRNA processing, erythrocyte differentiation, base conversion or substitution editing, response to virus, mRNA processing, RNA processing, adenosine to inosine editing, adenosine to inosine editing, adenosine to inosine editing, adenosine to inosine editing, somatic diversification of immune receptors via somatic mutation, hematopoietic progenitor cell differentiation, osteoblast differentiation, 10735 9557 13577 4406 6214 6183 5723 5098 5531 ENSG00000160712 chr1 154405193 154469450 + IL6R protein_coding This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been identified in this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]. 3570 GO:0070110, GO:0043235, GO:0016324, GO:0009897, GO:0005896, GO:0005886, GO:0005576, GO:0005576, ciliary neurotrophic factor receptor complex, receptor complex, apical plasma membrane, external side of plasma membrane, interleukin-6 receptor complex, plasma membrane, extracellular region, extracellular region, GO:0070119, GO:0042803, GO:0019981, GO:0019981, GO:0019970, GO:0019955, GO:0019899, GO:0005515, GO:0005138, GO:0004921, GO:0004915, GO:0004897, GO:0004896, ciliary neurotrophic factor binding, protein homodimerization activity, interleukin-6 binding, interleukin-6 binding, interleukin-11 binding, cytokine binding, enzyme binding, protein binding, interleukin-6 receptor binding, interleukin-11 receptor activity, interleukin-6 receptor activity, ciliary neurotrophic factor receptor activity, cytokine receptor activity, GO:0097191, GO:0072540, GO:0072126, GO:0070120, GO:0070102, GO:0070102, GO:0070102, GO:0050829, GO:0050731, GO:0048661, GO:0045669, GO:0042531, GO:0042531, GO:0038154, GO:0034097, GO:0032755, GO:0032722, GO:0031018, GO:0031018, GO:0019221, GO:0019221, GO:0019221, GO:0010573, GO:0010536, GO:0008284, GO:0008284, GO:0008284, GO:0006953, GO:0002690, GO:0002548, GO:0002384, extrinsic apoptotic signaling pathway, T-helper 17 cell lineage commitment, positive regulation of glomerular mesangial cell proliferation, ciliary neurotrophic factor-mediated signaling pathway, interleukin-6-mediated signaling pathway, interleukin-6-mediated signaling pathway, interleukin-6-mediated signaling pathway, defense response to Gram-negative bacterium, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of smooth muscle cell proliferation, positive regulation of osteoblast differentiation, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, interleukin-11-mediated signaling pathway, response to cytokine, positive regulation of interleukin-6 production, positive regulation of chemokine production, endocrine pancreas development, endocrine pancreas development, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, vascular endothelial growth factor production, positive regulation of activation of Janus kinase activity, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, acute-phase response, positive regulation of leukocyte chemotaxis, monocyte chemotaxis, hepatic immune response, 7894 7368 10048 2536 4258 3695 3137 3255 3153 ENSG00000160714 chr1 154548577 154559028 - UBE2Q1 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]. 55585 GO:0030175, GO:0005829, GO:0005634, filopodium, cytosol, nucleus, GO:0061631, GO:0005524, GO:0005515, ubiquitin conjugating enzyme activity, ATP binding, protein binding, GO:0070459, GO:0061458, GO:0009566, GO:0007617, GO:0007566, GO:0001967, GO:0000209, prolactin secretion, reproductive system development, fertilization, mating behavior, embryo implantation, suckling behavior, protein polyubiquitination, 437 382 493 320 426 386 316 368 335 ENSG00000160716 chr1 154567781 154580026 + CHRNB2 protein_coding Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]. 1141 GO:0099060, GO:0098981, GO:0098691, GO:0045202, GO:0044853, GO:0043005, GO:0016021, GO:0009897, GO:0005892, GO:0005887, GO:0005886, integral component of postsynaptic specialization membrane, cholinergic synapse, dopaminergic synapse, synapse, plasma membrane raft, neuron projection, integral component of membrane, external side of plasma membrane, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, GO:0044877, GO:0042166, GO:0042166, GO:0030594, GO:0022848, GO:0022848, GO:0022848, GO:0015464, GO:0015276, GO:0008144, GO:0005515, protein-containing complex binding, acetylcholine binding, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, ligand-gated ion channel activity, drug binding, protein binding, GO:2000300, GO:1905144, GO:0095500, GO:0060084, GO:0060079, GO:0051963, GO:0051899, GO:0050890, GO:0050877, GO:0050877, GO:0048814, GO:0045759, GO:0045471, GO:0045188, GO:0042391, GO:0042320, GO:0042220, GO:0042113, GO:0042053, GO:0035176, GO:0035095, GO:0035094, GO:0034220, GO:0033603, GO:0032226, GO:0032225, GO:0030890, GO:0021952, GO:0021771, GO:0021631, GO:0021562, GO:0019233, GO:0014059, GO:0008542, GO:0008306, GO:0007626, GO:0007613, GO:0007612, GO:0007605, GO:0007601, GO:0007271, GO:0007268, GO:0007165, GO:0007165, GO:0006939, GO:0006816, GO:0006811, GO:0001666, GO:0001661, GO:0001508, regulation of synaptic vesicle exocytosis, response to acetylcholine, acetylcholine receptor signaling pathway, synaptic transmission involved in micturition, excitatory postsynaptic potential, regulation of synapse assembly, membrane depolarization, cognition, nervous system process, nervous system process, regulation of dendrite morphogenesis, negative regulation of action potential, response to ethanol, regulation of circadian sleep/wake cycle, non-REM sleep, regulation of membrane potential, regulation of circadian sleep/wake cycle, REM sleep, response to cocaine, B cell activation, regulation of dopamine metabolic process, social behavior, behavioral response to nicotine, response to nicotine, ion transmembrane transport, positive regulation of dopamine secretion, positive regulation of synaptic transmission, dopaminergic, regulation of synaptic transmission, dopaminergic, positive regulation of B cell proliferation, central nervous system projection neuron axonogenesis, lateral geniculate nucleus development, optic nerve morphogenesis, vestibulocochlear nerve development, sensory perception of pain, regulation of dopamine secretion, visual learning, associative learning, locomotory behavior, memory, learning, sensory perception of sound, visual perception, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, signal transduction, smooth muscle contraction, calcium ion transport, ion transport, response to hypoxia, conditioned taste aversion, action potential, 15 20 19 7 16 16 9 12 18 ENSG00000160741 chr1 153947669 153958625 - CRTC2 protein_coding This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010]. 200186 GO:0070062, GO:0005737, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0008140, GO:0005515, GO:0003682, cAMP response element binding protein binding, protein binding, chromatin binding, GO:1901998, GO:0051289, GO:0045944, GO:0043970, GO:0042593, GO:0032793, GO:0032793, GO:0016032, GO:0006094, toxin transport, protein homotetramerization, positive regulation of transcription by RNA polymerase II, histone H3-K9 acetylation, glucose homeostasis, positive regulation of CREB transcription factor activity, positive regulation of CREB transcription factor activity, viral process, gluconeogenesis, 1493 1589 2112 1145 1716 1524 1202 1328 1337 ENSG00000160746 chr3 43354859 43691594 - ANO10 protein_coding The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 55129 GO:0043231, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, intracellular membrane-bounded organelle, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, GO:0005229, GO:0005229, GO:0005227, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, calcium activated cation channel activity, GO:1902476, GO:0098655, GO:0055085, GO:0034220, GO:0006821, GO:0006812, chloride transmembrane transport, cation transmembrane transport, transmembrane transport, ion transmembrane transport, chloride transport, cation transport, 237 292 305 75 131 85 84 129 73 ENSG00000160752 chr1 155308748 155320666 + FDPS protein_coding This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]. 2224 GO:0005829, GO:0005829, GO:0005737, GO:0005654, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0046872, GO:0005515, GO:0004337, GO:0004161, GO:0003723, metal ion binding, protein binding, geranyltranstransferase activity, dimethylallyltranstransferase activity, RNA binding, GO:0045540, GO:0045337, GO:0045337, GO:0033384, GO:0016032, GO:0006695, regulation of cholesterol biosynthetic process, farnesyl diphosphate biosynthetic process, farnesyl diphosphate biosynthetic process, geranyl diphosphate biosynthetic process, viral process, cholesterol biosynthetic process, 237 246 247 178 270 206 204 219 202 ENSG00000160753 chr1 155320896 155331114 + RUSC1 protein_coding 23623 GO:0031410, GO:0031410, GO:0015630, GO:0014069, GO:0005874, GO:0005829, GO:0005794, GO:0005769, GO:0005634, cytoplasmic vesicle, cytoplasmic vesicle, microtubule cytoskeleton, postsynaptic density, microtubule, cytosol, Golgi apparatus, early endosome, nucleus, GO:0005515, GO:0003779, protein binding, actin binding, GO:0000209, protein polyubiquitination, 18 29 19 44 37 61 41 15 60 ENSG00000160766 chr1 155213821 155227422 - GBAP1 transcribed_unprocessed_pseudogene 2630 21 5 8 8 23 1 9 14 14 ENSG00000160767 chr1 155247205 155255483 - FAM189B protein_coding This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. 10712 GO:0016021, integral component of membrane, GO:0050699, GO:0005515, WW domain binding, protein binding, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000160781 chr1 156243321 156248117 - PAQR6 protein_coding 79957 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0038023, GO:0005515, GO:0005496, signaling receptor activity, protein binding, steroid binding, 51 53 76 92 93 91 62 71 53 ENSG00000160783 chr1 156212993 156240042 + PMF1 protein_coding 11243 GO:0043231, GO:0005829, GO:0005794, GO:0005667, GO:0005654, GO:0000818, GO:0000777, GO:0000444, intracellular membrane-bounded organelle, cytosol, Golgi apparatus, transcription regulator complex, nucleoplasm, nuclear MIS12/MIND complex, condensed chromosome kinetochore, MIS12/MIND type complex, GO:0043522, GO:0005515, GO:0003713, leucine zipper domain binding, protein binding, transcription coactivator activity, GO:1903508, GO:0051301, GO:0007059, GO:0007059, GO:0007049, GO:0006366, positive regulation of nucleic acid-templated transcription, cell division, chromosome segregation, chromosome segregation, cell cycle, transcription by RNA polymerase II, 98 104 93 114 123 114 125 123 146 ENSG00000160785 chr1 156193932 156212796 + SLC25A44 protein_coding SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]. 9673 GO:0031966, GO:0016021, GO:0005739, mitochondrial membrane, integral component of membrane, mitochondrion, GO:0015658, GO:0005347, branched-chain amino acid transmembrane transporter activity, ATP transmembrane transporter activity, GO:0120161, GO:0055085, GO:0015867, GO:0015803, GO:0009083, regulation of cold-induced thermogenesis, transmembrane transport, ATP transport, branched-chain amino acid transport, branched-chain amino acid catabolic process, 1317 1134 1508 727 1116 916 894 736 771 ENSG00000160789 chr1 156082573 156140089 + LMNA protein_coding The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]. 4000 GO:0031965, GO:0016607, GO:0016604, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005638, GO:0005635, GO:0005635, GO:0005635, GO:0005634, GO:0005634, nuclear membrane, nuclear speck, nuclear body, cytosol, cytosol, nucleoplasm, nucleoplasm, lamin filament, nuclear envelope, nuclear envelope, nuclear envelope, nucleus, nucleus, GO:0005515, protein binding, GO:2001237, GO:1903243, GO:1900180, GO:1900114, GO:0090343, GO:0090201, GO:0072201, GO:0071456, GO:0055015, GO:0036498, GO:0034504, GO:0031647, GO:0030951, GO:0030334, GO:0010628, GO:0008285, GO:0007084, GO:0006606, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of cardiac muscle hypertrophy in response to stress, regulation of protein localization to nucleus, positive regulation of histone H3-K9 trimethylation, positive regulation of cell aging, negative regulation of release of cytochrome c from mitochondria, negative regulation of mesenchymal cell proliferation, cellular response to hypoxia, ventricular cardiac muscle cell development, IRE1-mediated unfolded protein response, protein localization to nucleus, regulation of protein stability, establishment or maintenance of microtubule cytoskeleton polarity, regulation of cell migration, positive regulation of gene expression, negative regulation of cell population proliferation, mitotic nuclear envelope reassembly, protein import into nucleus, 375 271 1200 337 61 407 561 83 379 ENSG00000160791 chr3 46370854 46376206 + CCR5 protein_coding This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]. 1234 GO:0009986, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005768, GO:0005737, cell surface, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, endosome, cytoplasm, GO:0071791, GO:0071791, GO:0042802, GO:0019957, GO:0019957, GO:0016493, GO:0016493, GO:0016493, GO:0015026, GO:0005515, GO:0004950, GO:0004435, GO:0003779, GO:0001618, chemokine (C-C motif) ligand 5 binding, chemokine (C-C motif) ligand 5 binding, identical protein binding, C-C chemokine binding, C-C chemokine binding, C-C chemokine receptor activity, C-C chemokine receptor activity, C-C chemokine receptor activity, coreceptor activity, protein binding, chemokine receptor activity, phosphatidylinositol phospholipase C activity, actin binding, virus receptor activity, GO:2000110, GO:0071222, GO:0070723, GO:0070098, GO:0060326, GO:0023052, GO:0019722, GO:0019722, GO:0019221, GO:0019064, GO:0014808, GO:0007267, GO:0007204, GO:0007186, GO:0007186, GO:0007166, GO:0006968, GO:0006955, GO:0006954, GO:0006816, GO:0002407, GO:0000165, negative regulation of macrophage apoptotic process, cellular response to lipopolysaccharide, response to cholesterol, chemokine-mediated signaling pathway, cell chemotaxis, signaling, calcium-mediated signaling, calcium-mediated signaling, cytokine-mediated signaling pathway, fusion of virus membrane with host plasma membrane, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cellular defense response, immune response, inflammatory response, calcium ion transport, dendritic cell chemotaxis, MAPK cascade, 24 25 78 66 29 129 59 31 97 ENSG00000160796 chr3 46979683 47009703 + NBEAL2 protein_coding The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]. 23218 GO:0101003, GO:0070821, GO:0016020, GO:0005886, GO:0005829, GO:0005783, ficolin-1-rich granule membrane, tertiary granule membrane, membrane, plasma membrane, cytosol, endoplasmic reticulum, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0043312, GO:0030220, GO:0008104, neutrophil degranulation, platelet formation, protein localization, 9402 9905 12554 9110 11321 11964 9422 7565 10454 ENSG00000160799 chr3 46921726 46982010 - CCDC12 protein_coding 151903 GO:0071014, GO:0005684, post-mRNA release spliceosomal complex, U2-type spliceosomal complex, GO:0005515, protein binding, 56 64 84 56 103 88 61 90 61 ENSG00000160801 chr3 46877746 46903799 + PTH1R protein_coding The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]. 5745 GO:0043235, GO:0031526, GO:0016324, GO:0016323, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005634, receptor complex, brush border membrane, apical plasma membrane, basolateral plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0043621, GO:0042803, GO:0017046, GO:0017046, GO:0008528, GO:0005515, GO:0004991, GO:0004991, protein self-association, protein homodimerization activity, peptide hormone binding, peptide hormone binding, G protein-coupled peptide receptor activity, protein binding, parathyroid hormone receptor activity, parathyroid hormone receptor activity, GO:0060732, GO:0048469, GO:0045453, GO:0030282, GO:0008285, GO:0008284, GO:0007568, GO:0007204, GO:0007200, GO:0007189, GO:0007189, GO:0007189, GO:0007188, GO:0007188, GO:0007187, GO:0007186, GO:0007166, GO:0006874, GO:0002076, GO:0002062, GO:0001501, positive regulation of inositol phosphate biosynthetic process, cell maturation, bone resorption, bone mineralization, negative regulation of cell population proliferation, positive regulation of cell population proliferation, aging, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cellular calcium ion homeostasis, osteoblast development, chondrocyte differentiation, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000160803 chr1 156035301 156053794 - UBQLN4 protein_coding 56893 GO:0090734, GO:0048471, GO:0032991, GO:0031597, GO:0031597, GO:0031595, GO:0031410, GO:0005829, GO:0005829, GO:0005829, GO:0005789, GO:0005776, GO:0005737, GO:0005654, GO:0005634, site of DNA damage, perinuclear region of cytoplasm, protein-containing complex, cytosolic proteasome complex, cytosolic proteasome complex, nuclear proteasome complex, cytoplasmic vesicle, cytosol, cytosol, cytosol, endoplasmic reticulum membrane, autophagosome, cytoplasm, nucleoplasm, nucleus, GO:0042802, GO:0036435, GO:0031593, GO:0031593, GO:0031593, GO:0005515, identical protein binding, K48-linked polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, protein binding, GO:2000042, GO:1901097, GO:0032434, GO:0032434, GO:0006974, GO:0006914, GO:0006511, GO:0006281, negative regulation of double-strand break repair via homologous recombination, negative regulation of autophagosome maturation, regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of proteasomal ubiquitin-dependent protein catabolic process, cellular response to DNA damage stimulus, autophagy, ubiquitin-dependent protein catabolic process, DNA repair, 27 23 43 70 23 52 42 22 45 ENSG00000160808 chr3 46857872 46882169 - MYL3 protein_coding MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]. 4634 GO:0031674, GO:0031672, GO:0030017, GO:0005859, GO:0005829, I band, A band, sarcomere, muscle myosin complex, cytosol, GO:0032038, GO:0008307, GO:0005509, GO:0003785, GO:0003774, myosin II heavy chain binding, structural constituent of muscle, calcium ion binding, actin monomer binding, motor activity, GO:0060048, GO:0055010, GO:0032781, GO:0030049, GO:0007519, GO:0006942, GO:0002026, cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, positive regulation of ATPase activity, muscle filament sliding, skeletal muscle tissue development, regulation of striated muscle contraction, regulation of the force of heart contraction, 0 0 0 0 0 0 0 0 0 ENSG00000160813 chr7 100435282 100436565 - PPP1R35 protein_coding 221908 GO:0019902, GO:0004864, phosphatase binding, protein phosphatase inhibitor activity, GO:0032515, GO:0010923, GO:0010923, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 373 391 306 817 1036 954 614 504 538 ENSG00000160818 chr1 156594487 156601496 - GPATCH4 protein_coding 54865 GO:0005515, GO:0003723, protein binding, RNA binding, 13 25 28 89 32 62 44 19 62 ENSG00000160838 chr1 156920650 156933094 + LRRC71 protein_coding 149499 0 0 0 1 2 5 0 0 0 ENSG00000160856 chr1 157674321 157700857 - FCRL3 protein_coding This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 115352 GO:0009986, GO:0005887, cell surface, integral component of plasma membrane, GO:1990782, GO:0019903, GO:0019902, GO:0019900, GO:0004888, protein tyrosine kinase binding, protein phosphatase binding, phosphatase binding, kinase binding, transmembrane signaling receptor activity, GO:1905184, GO:0090279, GO:0050864, GO:0050859, GO:0045577, GO:0043410, GO:0034163, GO:0030890, GO:0007166, GO:0002638, positive regulation of protein serine/threonine phosphatase activity, regulation of calcium ion import, regulation of B cell activation, negative regulation of B cell receptor signaling pathway, regulation of B cell differentiation, positive regulation of MAPK cascade, regulation of toll-like receptor 9 signaling pathway, positive regulation of B cell proliferation, cell surface receptor signaling pathway, negative regulation of immunoglobulin production, 21 39 76 104 69 157 135 66 133 ENSG00000160862 chr7 99966720 99976157 - AZGP1 protein_coding 563 GO:0070062, GO:0062023, GO:0009897, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, external side of plasma membrane, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0008320, GO:0005515, GO:0004540, protein transmembrane transporter activity, protein binding, ribonuclease activity, GO:0090501, GO:0071806, GO:0055085, GO:0008285, GO:0007155, GO:0006955, GO:0002486, GO:0002476, GO:0001916, GO:0001895, GO:0001580, RNA phosphodiester bond hydrolysis, protein transmembrane transport, transmembrane transport, negative regulation of cell population proliferation, cell adhesion, immune response, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent, antigen processing and presentation of endogenous peptide antigen via MHC class Ib, positive regulation of T cell mediated cytotoxicity, retina homeostasis, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000160867 chr5 177086886 177098144 + FGFR4 protein_coding The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. [provided by RefSeq, Aug 2017]. 2264 GO:0043235, GO:0030133, GO:0005911, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005768, GO:0005576, receptor complex, transport vesicle, cell-cell junction, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, endosome, extracellular region, GO:0017134, GO:0017134, GO:0017134, GO:0008201, GO:0005524, GO:0005515, GO:0005007, GO:0005007, GO:0005007, GO:0004714, fibroblast growth factor binding, fibroblast growth factor binding, fibroblast growth factor binding, heparin binding, ATP binding, protein binding, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, fibroblast growth factor-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:2000573, GO:1903412, GO:0070857, GO:0070857, GO:0070374, GO:0070374, GO:0055062, GO:0051897, GO:0046777, GO:0045862, GO:0043085, GO:0042632, GO:0042593, GO:0033674, GO:0019216, GO:0018108, GO:0016477, GO:0010715, GO:0010628, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0007275, GO:0007169, GO:0000165, positive regulation of DNA biosynthetic process, response to bile acid, regulation of bile acid biosynthetic process, regulation of bile acid biosynthetic process, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, phosphate ion homeostasis, positive regulation of protein kinase B signaling, protein autophosphorylation, positive regulation of proteolysis, positive regulation of catalytic activity, cholesterol homeostasis, glucose homeostasis, positive regulation of kinase activity, regulation of lipid metabolic process, peptidyl-tyrosine phosphorylation, cell migration, regulation of extracellular matrix disassembly, positive regulation of gene expression, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, MAPK cascade, 7 9 7 13 11 21 20 9 14 ENSG00000160868 chr7 99756960 99784265 - CYP3A4 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]. 1576 GO:0043231, GO:0016021, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, cytoplasm, GO:0102320, GO:0101021, GO:0101020, GO:0101020, GO:0070576, GO:0070330, GO:0050649, GO:0050649, GO:0050591, GO:0034875, GO:0030343, GO:0020037, GO:0019899, GO:0019825, GO:0016491, GO:0008401, GO:0008395, GO:0008395, GO:0005515, GO:0005506, GO:0005496, GO:0004497, GO:0004497, 1,8-cineole 2-exo-monooxygenase activity, estrogen 2-hydroxylase activity, estrogen 16-alpha-hydroxylase activity, estrogen 16-alpha-hydroxylase activity, vitamin D 24-hydroxylase activity, aromatase activity, testosterone 6-beta-hydroxylase activity, testosterone 6-beta-hydroxylase activity, quinine 3-monooxygenase activity, caffeine oxidase activity, vitamin D3 25-hydroxylase activity, heme binding, enzyme binding, oxygen binding, oxidoreductase activity, retinoic acid 4-hydroxylase activity, steroid hydroxylase activity, steroid hydroxylase activity, protein binding, iron ion binding, steroid binding, monooxygenase activity, monooxygenase activity, GO:0070989, GO:0070989, GO:0055114, GO:0046483, GO:0042759, GO:0042738, GO:0042737, GO:0042737, GO:0042573, GO:0042572, GO:0042572, GO:0042359, GO:0036378, GO:0017144, GO:0016098, GO:0009822, GO:0008210, GO:0008209, GO:0008203, GO:0008202, GO:0008202, GO:0008202, GO:0006805, GO:0006706, GO:0006629, GO:0002933, oxidative demethylation, oxidative demethylation, oxidation-reduction process, heterocycle metabolic process, long-chain fatty acid biosynthetic process, exogenous drug catabolic process, drug catabolic process, drug catabolic process, retinoic acid metabolic process, retinol metabolic process, retinol metabolic process, vitamin D metabolic process, calcitriol biosynthetic process from calciol, drug metabolic process, monoterpenoid metabolic process, alkaloid catabolic process, estrogen metabolic process, androgen metabolic process, cholesterol metabolic process, steroid metabolic process, steroid metabolic process, steroid metabolic process, xenobiotic metabolic process, steroid catabolic process, lipid metabolic process, lipid hydroxylation, 2 0 0 0 0 2 1 0 0 ENSG00000160870 chr7 99684957 99735196 - CYP3A7 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]. 1551 GO:0005789, endoplasmic reticulum membrane, GO:0101021, GO:0101020, GO:0101020, GO:0070330, GO:0050649, GO:0020037, GO:0019825, GO:0008401, GO:0008395, GO:0008395, GO:0005506, GO:0004497, estrogen 2-hydroxylase activity, estrogen 16-alpha-hydroxylase activity, estrogen 16-alpha-hydroxylase activity, aromatase activity, testosterone 6-beta-hydroxylase activity, heme binding, oxygen binding, retinoic acid 4-hydroxylase activity, steroid hydroxylase activity, steroid hydroxylase activity, iron ion binding, monooxygenase activity, GO:0070989, GO:0042573, GO:0042572, GO:0008210, GO:0008202, GO:0008202, GO:0006805, GO:0006694, GO:0002933, oxidative demethylation, retinoic acid metabolic process, retinol metabolic process, estrogen metabolic process, steroid metabolic process, steroid metabolic process, xenobiotic metabolic process, steroid biosynthetic process, lipid hydroxylation, 0 0 0 2 0 0 0 1 0 ENSG00000160877 chr19 13118103 13141141 + NACC1 protein_coding This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]. 112939 GO:0043231, GO:0030054, GO:0005737, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, cell junction, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0042826, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, histone deacetylase binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0008284, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 480 347 459 193 210 188 205 208 175 ENSG00000160882 chr8 142872356 142879846 - CYP11B1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]. 1584 GO:0005743, GO:0005743, GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0047783, GO:0020037, GO:0005506, GO:0004507, GO:0004507, GO:0004507, corticosterone 18-monooxygenase activity, heme binding, iron ion binding, steroid 11-beta-monooxygenase activity, steroid 11-beta-monooxygenase activity, steroid 11-beta-monooxygenase activity, GO:0071375, GO:0055114, GO:0042593, GO:0035865, GO:0034651, GO:0034651, GO:0034650, GO:0032870, GO:0032342, GO:0032342, GO:0032342, GO:0016125, GO:0008217, GO:0008203, GO:0006955, GO:0006704, GO:0006704, GO:0006700, GO:0006700, cellular response to peptide hormone stimulus, oxidation-reduction process, glucose homeostasis, cellular response to potassium ion, cortisol biosynthetic process, cortisol biosynthetic process, cortisol metabolic process, cellular response to hormone stimulus, aldosterone biosynthetic process, aldosterone biosynthetic process, aldosterone biosynthetic process, sterol metabolic process, regulation of blood pressure, cholesterol metabolic process, immune response, glucocorticoid biosynthetic process, glucocorticoid biosynthetic process, C21-steroid hormone biosynthetic process, C21-steroid hormone biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000160883 chr5 176880869 176899332 - HK3 protein_coding Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]. 3101 GO:1904813, GO:0034774, GO:0005829, GO:0005829, GO:0005739, GO:0005576, ficolin-1-rich granule lumen, secretory granule lumen, cytosol, cytosol, mitochondrion, extracellular region, GO:0019158, GO:0008865, GO:0008865, GO:0005536, GO:0005524, GO:0005515, GO:0004396, GO:0004340, GO:0004340, mannokinase activity, fructokinase activity, fructokinase activity, glucose binding, ATP binding, protein binding, hexokinase activity, glucokinase activity, glucokinase activity, GO:0061621, GO:0051156, GO:0051156, GO:0046835, GO:0043312, GO:0006096, GO:0006002, GO:0001678, canonical glycolysis, glucose 6-phosphate metabolic process, glucose 6-phosphate metabolic process, carbohydrate phosphorylation, neutrophil degranulation, glycolytic process, fructose 6-phosphate metabolic process, cellular glucose homeostasis, 739 617 936 555 568 567 572 433 424 ENSG00000160886 chr8 142700111 142705127 + LY6K protein_coding 54742 GO:0045121, GO:0031225, GO:0005886, GO:0005886, GO:0005576, GO:0001669, GO:0001669, membrane raft, anchored component of membrane, plasma membrane, plasma membrane, extracellular region, acrosomal vesicle, acrosomal vesicle, GO:0007339, binding of sperm to zona pellucida, 0 4 2 1 2 17 3 0 12 ENSG00000160888 chr19 13150415 13154908 + IER2 protein_coding 9592 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0071774, GO:0048870, GO:0045944, GO:0030182, response to fibroblast growth factor, cell motility, positive regulation of transcription by RNA polymerase II, neuron differentiation, 4210 3883 5848 12020 26989 25862 16876 31146 25751 ENSG00000160908 chr7 99486519 99500324 - ZNF394 protein_coding The protein encoded by this gene is a zinc finger protein that inhibits the transcription of mitogen-activated protein kinase signaling pathways. The encoded protein may be involved in cardiac function. [provided by RefSeq, Sep 2016]. 84124 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2353 2387 2288 3262 3758 4109 3444 3189 3064 ENSG00000160917 chr7 99438922 99457371 + CPSF4 protein_coding Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 10898 GO:0043231, GO:0005847, GO:0005847, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, mRNA cleavage and polyadenylation specificity factor complex, mRNA cleavage and polyadenylation specificity factor complex, nucleoplasm, nucleoplasm, GO:1990837, GO:0008270, GO:0005515, GO:0003723, sequence-specific double-stranded DNA binding, zinc ion binding, protein binding, RNA binding, GO:0098789, GO:0046778, GO:0031124, GO:0006406, GO:0006388, GO:0006369, GO:0000398, pre-mRNA cleavage required for polyadenylation, modification by virus of host mRNA processing, mRNA 3'-end processing, mRNA export from nucleus, tRNA splicing, via endonucleolytic cleavage and ligation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 64 87 92 99 81 86 82 71 53 ENSG00000160932 chr8 143017982 143023832 + LY6E protein_coding 4061 GO:0031225, GO:0005886, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, plasma membrane, extracellular region, GO:0030550, GO:0005515, acetylcholine receptor inhibitor activity, protein binding, GO:2000272, GO:0046597, GO:0007166, negative regulation of signaling receptor activity, negative regulation of viral entry into host cell, cell surface receptor signaling pathway, 1 3 2 39 0 4 0 1 2 ENSG00000160948 chr8 144423601 144428563 - VPS28 protein_coding This gene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding of enveloped viruses from the cell membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 51160 GO:0070062, GO:0043657, GO:0031902, GO:0010008, GO:0010008, GO:0005886, GO:0005829, GO:0005769, GO:0005768, GO:0005737, GO:0000813, GO:0000813, GO:0000813, extracellular exosome, host cell, late endosome membrane, endosome membrane, endosome membrane, plasma membrane, cytosol, early endosome, endosome, cytoplasm, ESCRT I complex, ESCRT I complex, ESCRT I complex, GO:0044877, GO:0043130, GO:0005515, protein-containing complex binding, ubiquitin binding, protein binding, GO:2000397, GO:0075733, GO:0045732, GO:0043328, GO:0043162, GO:0043162, GO:0039702, GO:0036258, GO:0031397, GO:0019058, GO:0016236, GO:0016197, positive regulation of ubiquitin-dependent endocytosis, intracellular transport of virus, positive regulation of protein catabolic process, protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, viral budding via host ESCRT complex, multivesicular body assembly, negative regulation of protein ubiquitination, viral life cycle, macroautophagy, endosomal transport, 671 658 839 607 821 678 558 614 728 ENSG00000160949 chr8 144428775 144444444 - TONSL protein_coding The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]. 4796 GO:0043596, GO:0042555, GO:0035101, GO:0016604, GO:0005737, GO:0005662, GO:0005654, nuclear replication fork, MCM complex, FACT complex, nuclear body, cytoplasm, DNA replication factor A complex, nucleoplasm, GO:0042393, GO:0005515, histone binding, protein binding, GO:0031297, GO:0000724, replication fork processing, double-strand break repair via homologous recombination, 12 3 7 11 10 29 14 6 11 ENSG00000160951 chr19 14472466 14475362 - PTGER1 protein_coding The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008]. 5731 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0031748, GO:0004957, D1 dopamine receptor binding, prostaglandin E receptor activity, GO:0120061, GO:0032496, GO:0007204, GO:0007191, GO:0007189, GO:0007186, GO:0006954, negative regulation of gastric emptying, response to lipopolysaccharide, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating dopamine receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000160953 chr19 1354711 1378431 + MUM1 protein_coding 84939 GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, nucleoplasm, nucleus, nucleus, GO:0031491, GO:0031491, GO:0005515, nucleosome binding, nucleosome binding, protein binding, GO:0006325, GO:0006325, GO:0006281, GO:0006281, chromatin organization, chromatin organization, DNA repair, DNA repair, 40 66 55 47 67 38 44 36 37 ENSG00000160957 chr8 144511288 144517845 - RECQL4 protein_coding The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]. 9401 GO:0016020, GO:0005737, GO:0005694, GO:0005634, GO:0000781, membrane, cytoplasm, chromosome, nucleus, chromosome, telomeric region, GO:0061821, GO:0043138, GO:0043138, GO:0036310, GO:0032357, GO:0009378, GO:0005524, GO:0005515, GO:0004386, GO:0000405, telomeric D-loop binding, 3'-5' DNA helicase activity, 3'-5' DNA helicase activity, annealing helicase activity, oxidized purine DNA binding, four-way junction helicase activity, ATP binding, protein binding, helicase activity, bubble DNA binding, GO:0061820, GO:0061820, GO:0032508, GO:0032508, GO:0032508, GO:0007275, GO:0006310, GO:0006281, GO:0006268, GO:0006260, GO:0006260, GO:0000733, GO:0000724, GO:0000723, GO:0000723, telomeric D-loop disassembly, telomeric D-loop disassembly, DNA duplex unwinding, DNA duplex unwinding, DNA duplex unwinding, multicellular organism development, DNA recombination, DNA repair, DNA unwinding involved in DNA replication, DNA replication, DNA replication, DNA strand renaturation, double-strand break repair via homologous recombination, telomere maintenance, telomere maintenance, 3 7 6 15 5 17 11 1 10 ENSG00000160959 chr8 144517992 144525178 + LRRC14 protein_coding This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 9684 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0019900, GO:0019900, GO:0005515, kinase binding, kinase binding, protein binding, GO:0034122, GO:0032088, GO:0032088, negative regulation of toll-like receptor signaling pathway, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, 63 63 75 50 61 59 58 49 69 ENSG00000160961 chr19 14689801 14733746 + ZNF333 protein_coding 84449 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1287 1301 1213 1195 1618 1174 1384 1136 1025 ENSG00000160963 chr7 101362820 101559024 + COL26A1 protein_coding This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]. 136227 GO:0062023, GO:0005886, GO:0005794, GO:0005788, GO:0005581, GO:0005576, collagen-containing extracellular matrix, plasma membrane, Golgi apparatus, endoplasmic reticulum lumen, collagen trimer, extracellular region, GO:0010811, positive regulation of cell-substrate adhesion, 0 3 0 0 0 0 0 2 0 ENSG00000160972 chr8 144477969 144502121 + PPP1R16A protein_coding Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while the phosphorylation of other MYPT members results in PP1c inactivation, phosphorylation of the encoded protein by protein kinase A results in PP1c activation. [provided by RefSeq, Jan 2020]. 84988 GO:0005886, plasma membrane, GO:0019888, GO:0017020, GO:0008157, GO:0005515, protein phosphatase regulator activity, myosin phosphatase regulator activity, protein phosphatase 1 binding, protein binding, GO:0043666, GO:0035304, regulation of phosphoprotein phosphatase activity, regulation of protein dephosphorylation, 43 91 104 38 79 86 48 74 47 ENSG00000160973 chr8 144473412 144476335 - FOXH1 protein_coding FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]. 8928 GO:0032444, GO:0032444, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, activin responsive factor complex, activin responsive factor complex, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromatin, GO:0070412, GO:0070412, GO:0070410, GO:0050681, GO:0046332, GO:0043565, GO:0043425, GO:0019904, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0001228, GO:0000987, GO:0000981, GO:0000976, GO:0000976, R-SMAD binding, R-SMAD binding, co-SMAD binding, androgen receptor binding, SMAD binding, sequence-specific DNA binding, bHLH transcription factor binding, protein domain specific binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1900164, GO:0071345, GO:0060766, GO:0048318, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0043433, GO:0035909, GO:0035054, GO:0033147, GO:0007179, GO:0007179, GO:0007179, GO:0003222, GO:0003215, GO:0003151, GO:0003139, GO:0001947, nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry, cellular response to cytokine stimulus, negative regulation of androgen receptor signaling pathway, axial mesoderm development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, aorta morphogenesis, embryonic heart tube anterior/posterior pattern specification, negative regulation of intracellular estrogen receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, ventricular trabecula myocardium morphogenesis, cardiac right ventricle morphogenesis, outflow tract morphogenesis, secondary heart field specification, heart looping, 18 8 16 17 8 39 23 7 31 ENSG00000160991 chr7 102433106 102456821 + ORAI2 protein_coding 80228 GO:0030426, GO:0016021, GO:0016020, growth cone, integral component of membrane, membrane, GO:0015279, GO:0005515, store-operated calcium channel activity, protein binding, GO:0070588, GO:0002115, calcium ion transmembrane transport, store-operated calcium entry, 2387 3440 3852 742 2134 1575 980 1850 1708 ENSG00000160993 chr7 102456238 102464876 - ALKBH4 protein_coding 54784 GO:0070938, GO:0070938, GO:0030496, GO:0030496, GO:0005737, GO:0005730, contractile ring, contractile ring, midbody, midbody, cytoplasm, nucleolus, GO:0046872, GO:0035516, GO:0032451, GO:0032451, GO:0016706, GO:0016491, GO:0005515, GO:0003779, GO:0003779, metal ion binding, oxidative DNA demethylase activity, demethylase activity, demethylase activity, 2-oxoglutarate-dependent dioxygenase activity, oxidoreductase activity, protein binding, actin binding, actin binding, GO:1902275, GO:0080111, GO:0070989, GO:0036090, GO:0035511, GO:0031032, GO:0031032, GO:0006482, GO:0006482, GO:0006325, regulation of chromatin organization, DNA demethylation, oxidative demethylation, cleavage furrow ingression, oxidative DNA demethylation, actomyosin structure organization, actomyosin structure organization, protein demethylation, protein demethylation, chromatin organization, 181 416 425 176 426 398 218 312 430 ENSG00000160994 chr19 15010744 15023269 + CCDC105 protein_coding 126402 GO:0070062, extracellular exosome, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000160999 chr7 102285091 102321711 + SH2B2 protein_coding The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]. 10603 GO:0005886, GO:0005886, GO:0005829, GO:0005737, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0042169, GO:0035591, GO:0005515, GO:0005068, SH2 domain binding, signaling adaptor activity, protein binding, transmembrane receptor protein tyrosine kinase adaptor activity, GO:0050853, GO:0050851, GO:0035556, GO:0008286, GO:0007596, B cell receptor signaling pathway, antigen receptor-mediated signaling pathway, intracellular signal transduction, insulin receptor signaling pathway, blood coagulation, 1752 1551 2619 680 821 1136 692 587 787 ENSG00000161010 chr5 179835133 179862173 - MRNIP protein_coding 51149 GO:0030870, GO:0005654, GO:0005634, Mre11 complex, nucleoplasm, nucleus, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:2001032, GO:1905168, GO:0071168, GO:0045860, GO:0010212, GO:0007095, GO:0006974, GO:0006281, regulation of double-strand break repair via nonhomologous end joining, positive regulation of double-strand break repair via homologous recombination, protein localization to chromatin, positive regulation of protein kinase activity, response to ionizing radiation, mitotic G2 DNA damage checkpoint, cellular response to DNA damage stimulus, DNA repair, 1965 2511 3990 8313 9092 14215 9344 7385 11300 ENSG00000161011 chr5 179806398 179838078 + SQSTM1 protein_coding This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]. 8878 GO:0097413, GO:0097225, GO:0070062, GO:0044754, GO:0044753, GO:0044753, GO:0043231, GO:0030017, GO:0016605, GO:0016235, GO:0016234, GO:0005829, GO:0005829, GO:0005783, GO:0005776, GO:0005770, GO:0005739, GO:0005737, GO:0005654, GO:0000932, GO:0000407, Lewy body, sperm midpiece, extracellular exosome, autolysosome, amphisome, amphisome, intracellular membrane-bounded organelle, sarcomere, PML body, aggresome, inclusion body, cytosol, cytosol, endoplasmic reticulum, autophagosome, late endosome, mitochondrion, cytoplasm, nucleoplasm, P-body, phagophore assembly site, GO:0070530, GO:0070530, GO:0044877, GO:0043130, GO:0043130, GO:0042802, GO:0042169, GO:0035255, GO:0031625, GO:0031625, GO:0030971, GO:0019901, GO:0019899, GO:0008270, GO:0005515, GO:0005080, GO:0005080, GO:0004674, K63-linked polyubiquitin modification-dependent protein binding, K63-linked polyubiquitin modification-dependent protein binding, protein-containing complex binding, ubiquitin binding, ubiquitin binding, identical protein binding, SH2 domain binding, ionotropic glutamate receptor binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, receptor tyrosine kinase binding, protein kinase binding, enzyme binding, zinc ion binding, protein binding, protein kinase C binding, protein kinase C binding, protein serine/threonine kinase activity, GO:1905719, GO:1903078, GO:1900273, GO:0098780, GO:0070498, GO:0061912, GO:0061635, GO:0046578, GO:0045944, GO:0043122, GO:0043066, GO:0043065, GO:0035973, GO:0035973, GO:0035556, GO:0031397, GO:0030154, GO:0016236, GO:0016236, GO:0016236, GO:0016197, GO:0010821, GO:0008104, GO:0007032, GO:0007032, GO:0006915, GO:0006914, GO:0006914, GO:0006914, GO:0006511, GO:0006468, GO:0002931, GO:0002376, GO:0001934, GO:0000423, GO:0000423, GO:0000422, GO:0000122, protein localization to perinuclear region of cytoplasm, positive regulation of protein localization to plasma membrane, positive regulation of long-term synaptic potentiation, response to mitochondrial depolarisation, interleukin-1-mediated signaling pathway, selective autophagy, regulation of protein complex stability, regulation of Ras protein signal transduction, positive regulation of transcription by RNA polymerase II, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of apoptotic process, aggrephagy, aggrephagy, intracellular signal transduction, negative regulation of protein ubiquitination, cell differentiation, macroautophagy, macroautophagy, macroautophagy, endosomal transport, regulation of mitochondrion organization, protein localization, endosome organization, endosome organization, apoptotic process, autophagy, autophagy, autophagy, ubiquitin-dependent protein catabolic process, protein phosphorylation, response to ischemia, immune system process, positive regulation of protein phosphorylation, mitophagy, mitophagy, autophagy of mitochondrion, negative regulation of transcription by RNA polymerase II, 4607 5637 9517 12149 13043 20422 14563 12014 16790 ENSG00000161013 chr5 179797597 179806952 - MGAT4B protein_coding This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1, 4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]. 11282 GO:0016021, GO:0005795, GO:0005793, GO:0005783, GO:0000139, integral component of membrane, Golgi stack, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, Golgi membrane, GO:0046872, GO:0008454, GO:0008375, GO:0005515, metal ion binding, alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0006491, GO:0006487, N-glycan processing, protein N-linked glycosylation, 212 276 424 130 198 183 194 174 204 ENSG00000161016 chr8 144789765 144792587 - RPL8 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6132 GO:0098794, GO:0098794, GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0014069, GO:0014069, GO:0005925, GO:0005829, postsynapse, postsynapse, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, postsynaptic density, postsynaptic density, focal adhesion, cytosol, GO:0019843, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1045 826 1569 2503 1521 3113 1685 1365 2141 ENSG00000161021 chr5 179732850 179777286 + MAML1 protein_coding This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]. 9794 GO:0043231, GO:0016607, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0002193, intracellular membrane-bounded organelle, nuclear speck, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, MAML1-RBP-Jkappa- ICN1 complex, GO:0042605, GO:0019901, GO:0005515, GO:0003713, GO:0003713, peptide antigen binding, protein kinase binding, protein binding, transcription coactivator activity, transcription coactivator activity, GO:0060928, GO:0045944, GO:0045747, GO:0045445, GO:0010831, GO:0007221, GO:0007221, GO:0007219, GO:0007219, GO:0006468, GO:0006367, GO:0003162, atrioventricular node cell development, positive regulation of transcription by RNA polymerase II, positive regulation of Notch signaling pathway, myoblast differentiation, positive regulation of myotube differentiation, positive regulation of transcription of Notch receptor target, positive regulation of transcription of Notch receptor target, Notch signaling pathway, Notch signaling pathway, protein phosphorylation, transcription initiation from RNA polymerase II promoter, atrioventricular node development, 1666 1769 2201 786 1315 986 934 905 934 ENSG00000161031 chr19 15468645 15498956 - PGLYRP2 protein_coding This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011]. 114770 GO:0070062, GO:0016020, GO:0005576, extracellular exosome, membrane, extracellular region, GO:0042834, GO:0042834, GO:0016019, GO:0016019, GO:0008745, GO:0008745, GO:0008270, peptidoglycan binding, peptidoglycan binding, peptidoglycan immune receptor activity, peptidoglycan immune receptor activity, N-acetylmuramoyl-L-alanine amidase activity, N-acetylmuramoyl-L-alanine amidase activity, zinc ion binding, GO:0051701, GO:0050830, GO:0050830, GO:0050727, GO:0045087, GO:0032827, GO:0032689, GO:0019730, GO:0016045, GO:0016045, GO:0009253, GO:0001519, biological process involved in interaction with host, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, regulation of inflammatory response, innate immune response, negative regulation of natural killer cell differentiation involved in immune response, negative regulation of interferon-gamma production, antimicrobial humoral response, detection of bacterium, detection of bacterium, peptidoglycan catabolic process, peptide amidation, 3 0 1 0 1 0 1 3 0 ENSG00000161036 chr7 102464929 102473168 + LRWD1 protein_coding The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 222229 GO:0043231, GO:0005815, GO:0005737, GO:0005730, GO:0005721, GO:0005664, GO:0005654, GO:0005634, GO:0000781, GO:0000777, GO:0000776, intracellular membrane-bounded organelle, microtubule organizing center, cytoplasm, nucleolus, pericentric heterochromatin, nuclear origin of replication recognition complex, nucleoplasm, nucleus, chromosome, telomeric region, condensed chromosome kinetochore, kinetochore, GO:0035064, GO:0008327, GO:0005515, GO:0003682, methylated histone binding, methyl-CpG binding, protein binding, chromatin binding, GO:0071169, GO:0006325, GO:0006270, establishment of protein localization to chromatin, chromatin organization, DNA replication initiation, 420 1003 1091 609 1363 1308 596 970 1062 ENSG00000161040 chr7 102813230 103074843 - FBXL13 protein_coding Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 222235 GO:0031514, GO:0019005, GO:0005856, GO:0005829, motile cilium, SCF ubiquitin ligase complex, cytoskeleton, cytosol, GO:0043687, GO:0031146, GO:0000209, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein polyubiquitination, 253 245 203 130 199 144 219 239 128 ENSG00000161048 chr7 103099776 103149560 - NAPEPLD protein_coding NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008]. 222236 GO:0070062, GO:0043227, GO:0042622, GO:0031901, GO:0005829, GO:0005794, GO:0005769, GO:0005737, GO:0005654, GO:0005635, GO:0000139, extracellular exosome, membrane-bounded organelle, photoreceptor outer segment membrane, early endosome membrane, cytosol, Golgi apparatus, early endosome, cytoplasm, nucleoplasm, nuclear envelope, Golgi membrane, GO:0102200, GO:0070290, GO:0070290, GO:0070290, GO:0042802, GO:0032052, GO:0008270, N-acetylphosphatidylethanolamine-hydrolysing phospholipase activity, N-acylphosphatidylethanolamine-specific phospholipase D activity, N-acylphosphatidylethanolamine-specific phospholipase D activity, N-acylphosphatidylethanolamine-specific phospholipase D activity, identical protein binding, bile acid binding, zinc ion binding, GO:1903999, GO:0090336, GO:0070292, GO:0070292, GO:0070291, GO:0050729, GO:0048874, GO:0035900, GO:0009395, GO:0007568, GO:0001659, GO:0001523, negative regulation of eating behavior, positive regulation of brown fat cell differentiation, N-acylphosphatidylethanolamine metabolic process, N-acylphosphatidylethanolamine metabolic process, N-acylethanolamine metabolic process, positive regulation of inflammatory response, host-mediated regulation of intestinal microbiota composition, response to isolation stress, phospholipid catabolic process, aging, temperature homeostasis, retinoid metabolic process, 0 1 0 0 1 3 1 0 10 ENSG00000161055 chr5 180590103 180591540 - SCGB3A1 protein_coding 92304 GO:0070062, GO:0005615, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, extracellular space, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:1901741, GO:0042127, GO:0030308, GO:0007165, positive regulation of myoblast fusion, regulation of cell population proliferation, negative regulation of cell growth, signal transduction, 0 0 0 1 0 0 0 0 0 ENSG00000161057 chr7 103344254 103369395 + PSMC2 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]. 5701 GO:1904813, GO:0043197, GO:0036464, GO:0034774, GO:0022624, GO:0016020, GO:0008540, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005576, GO:0000932, GO:0000502, ficolin-1-rich granule lumen, dendritic spine, cytoplasmic ribonucleoprotein granule, secretory granule lumen, proteasome accessory complex, membrane, proteasome regulatory particle, base subcomplex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, extracellular region, P-body, proteasome complex, GO:0036402, GO:0017025, GO:0016887, GO:0005524, GO:0005515, proteasome-activating ATPase activity, TBP-class protein binding, ATPase activity, ATP binding, protein binding, GO:1902036, GO:1901990, GO:1901800, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0045899, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0006511, GO:0002479, GO:0002223, GO:0001649, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of proteasomal protein catabolic process, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, positive regulation of RNA polymerase II transcription preinitiation complex assembly, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, ubiquitin-dependent protein catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, osteoblast differentiation, protein polyubiquitination, MAPK cascade, 44 63 63 86 42 119 57 34 44 ENSG00000161082 chr19 3224703 3297076 + CELF5 protein_coding This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing and translation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]. 60680 GO:1990904, GO:0005737, GO:0005634, GO:0005634, GO:0005575, ribonucleoprotein complex, cytoplasm, nucleus, nucleus, cellular_component, GO:0036002, GO:0005515, GO:0003729, GO:0003723, pre-mRNA binding, protein binding, mRNA binding, RNA binding, GO:0006376, GO:0000381, GO:0000381, mRNA splice site selection, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 1 2 0 1 0 0 7 1 1 ENSG00000161091 chr19 3538261 3574290 - MFSD12 protein_coding 126321 GO:0005887, GO:0005770, GO:0005765, integral component of plasma membrane, late endosome, lysosomal membrane, GO:0015293, GO:0005215, symporter activity, transporter activity, GO:0071702, GO:0055085, GO:0048022, GO:0008643, organic substance transport, transmembrane transport, negative regulation of melanin biosynthetic process, carbohydrate transport, 447 592 556 507 632 537 597 467 383 ENSG00000161103 chr22 18846811 18861049 + AC008132.1 transcribed_processed_pseudogene 102725072 GO:0005515, protein binding, 0 1 0 0 0 0 0 0 0 ENSG00000161132 chr22 20299760 20313216 + AC007663.1 unprocessed_pseudogene 0 1 0 0 1 0 0 0 0 ENSG00000161133 chr22 20350578 20390758 - USP41 protein_coding 373856 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0016579, GO:0006511, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000161149 chr22 21008193 21014292 - TUBA3FP processed_transcript 113691 0 0 0 2 0 4 1 0 1 ENSG00000161179 chr22 21628089 21630064 - YDJC protein_coding 150223 GO:0019213, GO:0000287, deacetylase activity, magnesium ion binding, GO:0005975, carbohydrate metabolic process, 25 34 46 23 48 38 20 35 33 ENSG00000161180 chr22 21632716 21637327 + CCDC116 protein_coding 164592 GO:0005813, GO:0005813, GO:0005737, centrosome, centrosome, cytoplasm, GO:0005515, protein binding, 1 1 0 1 6 0 3 2 0 ENSG00000161202 chr3 184155311 184173614 + DVL3 protein_coding This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]. 1857 GO:0005829, GO:0005829, GO:0005829, GO:0000785, cytosol, cytosol, cytosol, chromatin, GO:0031267, GO:0008013, GO:0005515, GO:0005109, GO:0005109, GO:0005109, GO:0005102, GO:0002020, small GTPase binding, beta-catenin binding, protein binding, frizzled binding, frizzled binding, frizzled binding, signaling receptor binding, protease binding, GO:1904886, GO:1903827, GO:0150012, GO:0090179, GO:0090090, GO:0060071, GO:0060071, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0060070, GO:0050821, GO:0045944, GO:0045893, GO:0043547, GO:0043507, GO:0042493, GO:0038031, GO:0035567, GO:0035567, GO:0035556, GO:0001934, beta-catenin destruction complex disassembly, regulation of cellular protein localization, positive regulation of neuron projection arborization, planar cell polarity pathway involved in neural tube closure, negative regulation of canonical Wnt signaling pathway, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, protein stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of GTPase activity, positive regulation of JUN kinase activity, response to drug, non-canonical Wnt signaling pathway via JNK cascade, non-canonical Wnt signaling pathway, non-canonical Wnt signaling pathway, intracellular signal transduction, positive regulation of protein phosphorylation, 608 548 831 580 638 797 649 527 686 ENSG00000161203 chr3 184174689 184184091 + AP2M1 protein_coding This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. 1173 GO:0070062, GO:0045334, GO:0043231, GO:0036020, GO:0031410, GO:0030669, GO:0030666, GO:0030122, GO:0030122, GO:0030122, GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005765, extracellular exosome, clathrin-coated endocytic vesicle, intracellular membrane-bounded organelle, endolysosome membrane, cytoplasmic vesicle, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, AP-2 adaptor complex, AP-2 adaptor complex, AP-2 adaptor complex, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, lysosomal membrane, GO:0050750, GO:0044325, GO:0035615, GO:0035615, GO:0008289, GO:0005515, GO:0005048, low-density lipoprotein particle receptor binding, ion channel binding, clathrin adaptor activity, clathrin adaptor activity, lipid binding, protein binding, signal sequence binding, GO:1903077, GO:0097494, GO:0072583, GO:0072583, GO:0072583, GO:0061024, GO:0060071, GO:0050690, GO:0048013, GO:0034622, GO:0034383, GO:0032802, GO:0031623, GO:0019886, GO:0016192, GO:0006900, GO:0006897, GO:0006886, negative regulation of protein localization to plasma membrane, regulation of vesicle size, clathrin-dependent endocytosis, clathrin-dependent endocytosis, clathrin-dependent endocytosis, membrane organization, Wnt signaling pathway, planar cell polarity pathway, regulation of defense response to virus by virus, ephrin receptor signaling pathway, cellular protein-containing complex assembly, low-density lipoprotein particle clearance, low-density lipoprotein particle receptor catabolic process, receptor internalization, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, vesicle budding from membrane, endocytosis, intracellular protein transport, 1059 1110 1218 429 691 681 530 721 544 ENSG00000161204 chr3 184186023 184194012 + ABCF3 protein_coding This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]. 55324 GO:0016020, membrane, GO:0045296, GO:0016887, GO:0005524, GO:0005515, cadherin binding, ATPase activity, ATP binding, protein binding, GO:0051607, defense response to virus, 224 224 277 264 242 288 223 191 243 ENSG00000161217 chr3 196214222 196287957 - PCYT1A protein_coding This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]. 5130 GO:0042587, GO:0005886, GO:0005829, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0005635, GO:0005634, glycogen granule, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nuclear envelope, nucleus, GO:0042803, GO:0042802, GO:0031210, GO:0005516, GO:0005515, GO:0004105, GO:0004105, GO:0004105, protein homodimerization activity, identical protein binding, phosphatidylcholine binding, calmodulin binding, protein binding, choline-phosphate cytidylyltransferase activity, choline-phosphate cytidylyltransferase activity, choline-phosphate cytidylyltransferase activity, GO:0006657, GO:0006657, GO:0006656, GO:0006656, GO:0006656, CDP-choline pathway, CDP-choline pathway, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, 1484 1212 1762 1589 1691 1601 1518 1152 1217 ENSG00000161243 chr19 38990714 39032785 - FBXO27 protein_coding Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 126433 GO:0019005, GO:0019005, GO:0005829, GO:0005737, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytoplasm, GO:0061630, GO:0005515, GO:0005515, ubiquitin protein ligase activity, protein binding, protein binding, GO:0043687, GO:0031146, GO:0030433, GO:0006516, GO:0000209, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent ERAD pathway, glycoprotein catabolic process, protein polyubiquitination, 0 0 0 2 0 0 0 0 0 ENSG00000161249 chr19 35497220 35513658 - DMKN protein_coding This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]. 93099 GO:0005615, extracellular space, GO:0005515, protein binding, GO:1903575, cornified envelope assembly, 0 1 0 1 0 5 1 0 1 ENSG00000161265 chr19 35742464 35745445 - U2AF1L4 protein_coding 199746 GO:0089701, GO:0016607, GO:0005737, GO:0005681, GO:0005654, U2AF complex, nuclear speck, cytoplasm, spliceosomal complex, nucleoplasm, GO:0046872, GO:0030628, metal ion binding, pre-mRNA 3'-splice site binding, GO:0031124, GO:0006406, GO:0006405, GO:0000398, GO:0000398, mRNA 3'-end processing, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 71 108 77 58 89 90 49 56 67 ENSG00000161267 chr3 197509783 197573323 - BDH1 protein_coding This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]. 622 GO:0099617, GO:0005759, GO:0005739, GO:0005654, matrix side of mitochondrial inner membrane, mitochondrial matrix, mitochondrion, nucleoplasm, GO:0003858, 3-hydroxybutyrate dehydrogenase activity, GO:0055114, GO:0046952, GO:0046951, oxidation-reduction process, ketone body catabolic process, ketone body biosynthetic process, 0 0 0 4 0 0 2 0 0 ENSG00000161270 chr19 35825964 35869287 - NPHS1 protein_coding This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]. 4868 GO:0070062, GO:0042995, GO:0036057, GO:0005925, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, cell projection, slit diaphragm, focal adhesion, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0050839, GO:0017022, GO:0005515, cell adhesion molecule binding, myosin binding, protein binding, GO:0098609, GO:0072015, GO:0044062, GO:0035418, GO:0032836, GO:0030838, GO:0007588, GO:0007520, GO:0007519, GO:0007254, GO:0007155, cell-cell adhesion, glomerular visceral epithelial cell development, regulation of excretion, protein localization to synapse, glomerular basement membrane development, positive regulation of actin filament polymerization, excretion, myoblast fusion, skeletal muscle tissue development, JNK cascade, cell adhesion, 2 0 1 0 2 9 0 1 1 ENSG00000161277 chr19 36034985 36054762 - THAP8 protein_coding 199745 GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 11 8 13 8 8 19 16 14 2 ENSG00000161281 chr19 36150922 36152869 - COX7A1 protein_coding Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]. 1346 GO:0016021, GO:0005746, GO:0005739, integral component of membrane, mitochondrial respirasome, mitochondrion, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0097250, GO:0022900, GO:0006119, GO:0006091, GO:0002082, proton transmembrane transport, mitochondrial respirasome assembly, electron transport chain, oxidative phosphorylation, generation of precursor metabolites and energy, regulation of oxidative phosphorylation, 0 2 6 3 2 6 9 9 9 ENSG00000161298 chr19 36604817 36634113 + ZNF382 protein_coding This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 84911 GO:0000785, chromatin, GO:0046872, GO:0003700, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 7 4 7 28 12 15 20 7 19 ENSG00000161328 chr11 537527 554916 + LRRC56 protein_coding 115399 GO:0005929, cilium, GO:0005515, protein binding, GO:0030030, cell projection organization, 1 1 0 0 0 0 0 0 0 ENSG00000161381 chr17 39063303 39154394 - PLXDC1 protein_coding 57125 GO:0043235, GO:0043025, GO:0030425, GO:0016021, GO:0005923, GO:0005886, GO:0005737, GO:0005576, receptor complex, neuronal cell body, dendrite, integral component of membrane, bicellular tight junction, plasma membrane, cytoplasm, extracellular region, GO:0005515, protein binding, GO:0021510, GO:0001525, spinal cord development, angiogenesis, 15 10 27 65 8 57 46 4 40 ENSG00000161395 chr17 39671122 39696797 - PGAP3 protein_coding This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]. 93210 GO:0031227, GO:0031227, GO:0016021, GO:0000139, intrinsic component of endoplasmic reticulum membrane, intrinsic component of endoplasmic reticulum membrane, integral component of membrane, Golgi membrane, GO:0016788, GO:0016788, GO:0005515, hydrolase activity, acting on ester bonds, hydrolase activity, acting on ester bonds, protein binding, GO:0006506, GO:0006506, GO:0006505, GPI anchor biosynthetic process, GPI anchor biosynthetic process, GPI anchor metabolic process, 22 27 32 39 27 70 53 31 43 ENSG00000161405 chr17 39757715 39864188 - IKZF3 protein_coding This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]. 22806 GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000785, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, chromatin, GO:1990841, GO:0046872, GO:0043565, GO:0042826, GO:0042803, GO:0042802, GO:0005515, GO:0003700, GO:0001228, GO:0000978, promoter-specific chromatin binding, metal ion binding, sequence-specific DNA binding, histone deacetylase binding, protein homodimerization activity, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045619, GO:0045577, GO:0042981, GO:0042113, GO:0030888, GO:0009617, GO:0007498, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of lymphocyte differentiation, regulation of B cell differentiation, regulation of apoptotic process, B cell activation, regulation of B cell proliferation, response to bacterium, mesoderm development, regulation of transcription by RNA polymerase II, 190 141 548 392 109 539 381 134 372 ENSG00000161509 chr17 74842023 74861504 - GRIN2C protein_coding This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 2905 GO:0098978, GO:0098839, GO:0017146, GO:0017146, GO:0017146, GO:0005887, GO:0005886, GO:0005886, glutamatergic synapse, postsynaptic density membrane, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1904315, GO:0038023, GO:0022849, GO:0015276, GO:0005515, GO:0004972, GO:0004972, GO:0004972, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, signaling receptor activity, glutamate-gated calcium ion channel activity, ligand-gated ion channel activity, protein binding, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, GO:1903539, GO:0098976, GO:0097553, GO:0060291, GO:0060079, GO:0050885, GO:0048167, GO:0042177, GO:0035235, GO:0033058, GO:0019722, GO:0009611, GO:0007420, GO:0007215, protein localization to postsynaptic membrane, excitatory chemical synaptic transmission, calcium ion transmembrane import into cytosol, long-term synaptic potentiation, excitatory postsynaptic potential, neuromuscular process controlling balance, regulation of synaptic plasticity, negative regulation of protein catabolic process, ionotropic glutamate receptor signaling pathway, directional locomotion, calcium-mediated signaling, response to wounding, brain development, glutamate receptor signaling pathway, 5 14 5 9 23 29 13 7 25 ENSG00000161513 chr17 74862497 74873031 - FDXR protein_coding This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]. 2232 GO:0005759, GO:0005743, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0016491, GO:0015039, GO:0004324, oxidoreductase activity, NADPH-adrenodoxin reductase activity, ferredoxin-NADP+ reductase activity, GO:0055114, GO:0016125, GO:0008203, GO:0006744, GO:0006700, GO:0006694, GO:0006091, oxidation-reduction process, sterol metabolic process, cholesterol metabolic process, ubiquinone biosynthetic process, C21-steroid hormone biosynthetic process, steroid biosynthetic process, generation of precursor metabolites and energy, 11 11 8 32 25 13 10 17 11 ENSG00000161526 chr17 75667116 75708062 + SAP30BP protein_coding 29115 GO:0045111, GO:0005654, GO:0005634, GO:0005634, intermediate filament cytoskeleton, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0010942, GO:0006915, GO:0006355, positive regulation of cell death, apoptotic process, regulation of transcription, DNA-templated, 1614 1495 2058 1815 1799 2318 1804 1330 1704 ENSG00000161533 chr17 75941507 75979363 - ACOX1 protein_coding The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 51 GO:0016020, GO:0005829, GO:0005782, GO:0005778, GO:0005777, GO:0005777, membrane, cytosol, peroxisomal matrix, peroxisomal membrane, peroxisome, peroxisome, GO:0071949, GO:0050660, GO:0047485, GO:0042803, GO:0030165, GO:0016401, GO:0005504, GO:0003997, GO:0003997, GO:0003997, FAD binding, flavin adenine dinucleotide binding, protein N-terminus binding, protein homodimerization activity, PDZ domain binding, palmitoyl-CoA oxidase activity, fatty acid binding, acyl-CoA oxidase activity, acyl-CoA oxidase activity, acyl-CoA oxidase activity, GO:0055088, GO:0050665, GO:0036109, GO:0033540, GO:0033540, GO:0033540, GO:0033540, GO:0019395, GO:0019216, GO:0009062, GO:0007283, GO:0006693, GO:0006629, GO:0006625, GO:0006091, GO:0000038, GO:0000038, lipid homeostasis, hydrogen peroxide biosynthetic process, alpha-linolenic acid metabolic process, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid oxidation, regulation of lipid metabolic process, fatty acid catabolic process, spermatogenesis, prostaglandin metabolic process, lipid metabolic process, protein targeting to peroxisome, generation of precursor metabolites and energy, very long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 750 2423 2709 682 2741 2335 856 1884 1940 ENSG00000161542 chr17 76309486 76384521 - PRPSAP1 protein_coding 5635 GO:0005737, GO:0002189, cytoplasm, ribose phosphate diphosphokinase complex, GO:0042802, GO:0005515, GO:0004857, GO:0004749, GO:0000287, identical protein binding, protein binding, enzyme inhibitor activity, ribose phosphate diphosphokinase activity, magnesium ion binding, GO:0043086, GO:0006164, GO:0006139, GO:0006015, negative regulation of catalytic activity, purine nucleotide biosynthetic process, nucleobase-containing compound metabolic process, 5-phosphoribose 1-diphosphate biosynthetic process, 101 59 72 56 61 54 65 62 46 ENSG00000161544 chr17 76527356 76551175 - CYGB protein_coding This gene encodes a globin protein found in vertebrate cells. The encoded protein is described as a hexacoordinate hemoglobin which binds ligand differently from the pentacoordinate hemoglobins involved in oxygen transport, and may be involved in protection during oxidative stress. This gene is located on chromosome 17 in the same region as a retinal gene which is mutated in progressive rod-cone degeneration, but in the opposite orientation. [provided by RefSeq, Jan 2012]. 114757 GO:0043025, GO:0043005, GO:0005829, neuronal cell body, neuron projection, cytosol, GO:0047888, GO:0020037, GO:0019825, GO:0005515, GO:0005506, GO:0005344, GO:0004601, GO:0004096, fatty acid peroxidase activity, heme binding, oxygen binding, protein binding, iron ion binding, oxygen carrier activity, peroxidase activity, catalase activity, GO:2000490, GO:0098869, GO:0050999, GO:0032966, GO:0019395, GO:0015671, GO:0015671, GO:0010764, GO:0006979, GO:0001666, negative regulation of hepatic stellate cell activation, cellular oxidant detoxification, regulation of nitric-oxide synthase activity, negative regulation of collagen biosynthetic process, fatty acid oxidation, oxygen transport, oxygen transport, negative regulation of fibroblast migration, response to oxidative stress, response to hypoxia, 0 0 0 0 3 0 2 4 0 ENSG00000161547 chr17 76734115 76737374 - SRSF2 protein_coding The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]. 6427 GO:0035061, GO:0016607, GO:0016607, GO:0016607, GO:0016605, GO:0005829, GO:0005737, GO:0005681, GO:0005654, GO:0005654, GO:0005634, interchromatin granule, nuclear speck, nuclear speck, nuclear speck, PML body, cytosol, cytoplasm, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0036002, GO:0005515, GO:0005080, GO:0003723, GO:0003723, GO:0003714, pre-mRNA binding, protein binding, protein kinase C binding, RNA binding, RNA binding, transcription corepressor activity, GO:1903507, GO:0045292, GO:0033197, GO:0031124, GO:0008380, GO:0006406, GO:0006405, GO:0006397, GO:0000398, GO:0000381, GO:0000278, negative regulation of nucleic acid-templated transcription, mRNA cis splicing, via spliceosome, response to vitamin E, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, RNA export from nucleus, mRNA processing, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, mitotic cell cycle, 1246 1295 1712 8182 9472 9475 7129 5460 7014 ENSG00000161551 chr19 51804816 51890950 - ZNF577 protein_coding 84765 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 14 15 19 31 25 14 23 24 6 ENSG00000161558 chr19 48332356 48364237 - TMEM143 protein_coding 55260 GO:0016021, GO:0005739, GO:0005739, integral component of membrane, mitochondrion, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 8 15 17 17 22 32 8 13 17 ENSG00000161594 chr17 41835685 41848384 + KLHL10 protein_coding The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]. 317719 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0048873, GO:0048808, GO:0016567, GO:0009566, GO:0008584, GO:0007286, GO:0000902, homeostasis of number of cells within a tissue, male genitalia morphogenesis, protein ubiquitination, fertilization, male gonad development, spermatid development, cell morphogenesis, 0 0 0 1 0 0 0 0 3 ENSG00000161609 chr19 49388218 49417994 + CCDC155 protein_coding 147872 GO:0090619, GO:0034993, GO:0016021, GO:0005640, GO:0000800, GO:0000781, GO:0000781, meiotic spindle pole, meiotic nuclear membrane microtubule tethering complex, integral component of membrane, nuclear outer membrane, lateral element, chromosome, telomeric region, chromosome, telomeric region, GO:0070840, GO:0042802, GO:0005515, dynein complex binding, identical protein binding, protein binding, GO:0090220, GO:0090172, GO:0051653, GO:0051225, GO:0048477, GO:0034397, GO:0007283, GO:0007129, GO:0007015, GO:0000724, chromosome localization to nuclear envelope involved in homologous chromosome segregation, microtubule cytoskeleton organization involved in homologous chromosome segregation, spindle localization, spindle assembly, oogenesis, telomere localization, spermatogenesis, homologous chromosome pairing at meiosis, actin filament organization, double-strand break repair via homologous recombination, 0 0 0 3 0 0 0 0 0 ENSG00000161610 chr17 42184060 42185452 - HCRT protein_coding This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. [provided by RefSeq, Jan 2010]. 3060 GO:0098794, GO:0048471, GO:0030141, GO:0008021, GO:0005791, GO:0005576, postsynapse, perinuclear region of cytoplasm, secretory granule, synaptic vesicle, rough endoplasmic reticulum, extracellular region, GO:0031772, GO:0031771, GO:0005184, type 2 hypocretin receptor binding, type 1 hypocretin receptor binding, neuropeptide hormone activity, GO:0120162, GO:0060079, GO:0051971, GO:0051970, GO:0051928, GO:0046928, GO:0043267, GO:0042755, GO:0042594, GO:0030431, GO:0008156, GO:0007268, GO:0007218, GO:0007205, GO:0007204, GO:0007200, GO:0007186, GO:0001659, positive regulation of cold-induced thermogenesis, excitatory postsynaptic potential, positive regulation of transmission of nerve impulse, negative regulation of transmission of nerve impulse, positive regulation of calcium ion transport, regulation of neurotransmitter secretion, negative regulation of potassium ion transport, eating behavior, response to starvation, sleep, negative regulation of DNA replication, chemical synaptic transmission, neuropeptide signaling pathway, protein kinase C-activating G protein-coupled receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, temperature homeostasis, 0 0 1 5 4 0 1 0 0 ENSG00000161618 chr19 49453169 49471048 + ALDH16A1 protein_coding This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]. 126133 GO:0016020, membrane, GO:0016620, GO:0005515, oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor, protein binding, GO:0055114, oxidation-reduction process, 78 127 108 120 86 125 103 94 111 ENSG00000161634 chr12 54644591 54648493 - DCD protein_coding This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. 117159 GO:0070062, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, extracellular region, extracellular region, extracellular region, GO:0008233, GO:0005515, GO:0003723, peptidase activity, protein binding, RNA binding, GO:0051873, GO:0050832, GO:0042742, GO:0019730, GO:0006508, killing by host of symbiont cells, defense response to fungus, defense response to bacterium, antimicrobial humoral response, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000161638 chr12 54395261 54419460 - ITGA5 protein_coding The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]. 3678 GO:0071062, GO:0045202, GO:0034674, GO:0032587, GO:0031410, GO:0009986, GO:0009986, GO:0009897, GO:0008305, GO:0005925, GO:0005925, GO:0005925, GO:0005911, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0001726, alphav-beta3 integrin-vitronectin complex, synapse, integrin alpha5-beta1 complex, ruffle membrane, cytoplasmic vesicle, cell surface, cell surface, external side of plasma membrane, integrin complex, focal adhesion, focal adhesion, focal adhesion, cell-cell junction, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, ruffle, GO:0046872, GO:0043184, GO:0005515, GO:0005178, GO:0005161, GO:0001618, metal ion binding, vascular endothelial growth factor receptor 2 binding, protein binding, integrin binding, platelet-derived growth factor receptor binding, virus receptor activity, GO:2000811, GO:1903672, GO:0050900, GO:0050731, GO:0046718, GO:0035987, GO:0035313, GO:0034113, GO:0033631, GO:0033627, GO:0031589, GO:0030949, GO:0030198, GO:0023035, GO:0007613, GO:0007229, GO:0007159, GO:0007157, GO:0007155, GO:0007044, GO:0001525, negative regulation of anoikis, positive regulation of sprouting angiogenesis, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, viral entry into host cell, endodermal cell differentiation, wound healing, spreading of epidermal cells, heterotypic cell-cell adhesion, cell-cell adhesion mediated by integrin, cell adhesion mediated by integrin, cell-substrate adhesion, positive regulation of vascular endothelial growth factor receptor signaling pathway, extracellular matrix organization, CD40 signaling pathway, memory, integrin-mediated signaling pathway, leukocyte cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, cell adhesion, cell-substrate junction assembly, angiogenesis, 2538 3089 3928 1796 2552 2321 1778 1804 1998 ENSG00000161640 chr19 49948985 49961172 - SIGLEC11 protein_coding This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 114132 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0033691, GO:0033691, GO:0030246, GO:0019902, sialic acid binding, sialic acid binding, carbohydrate binding, phosphatase binding, GO:0007155, cell adhesion, 0 0 0 5 0 1 7 0 0 ENSG00000161642 chr12 54369133 54391298 - ZNF385A protein_coding Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]. 25946 GO:0043025, GO:0043025, GO:0030425, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000785, neuronal cell body, neuronal cell body, dendrite, cytoplasm, nucleolus, nucleoplasm, nucleus, chromatin, GO:0008270, GO:0003730, GO:0003730, GO:0003723, GO:0003677, GO:0002039, zinc ion binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, RNA binding, DNA binding, p53 binding, GO:2000765, GO:2000765, GO:1902166, GO:1902164, GO:1901796, GO:0070889, GO:0045600, GO:0035855, GO:0030220, GO:0010609, GO:0010609, GO:0007626, GO:0007611, GO:0007599, GO:0006977, GO:0006974, GO:0006915, regulation of cytoplasmic translation, regulation of cytoplasmic translation, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, regulation of signal transduction by p53 class mediator, platelet alpha granule organization, positive regulation of fat cell differentiation, megakaryocyte development, platelet formation, mRNA localization resulting in posttranscriptional regulation of gene expression, mRNA localization resulting in posttranscriptional regulation of gene expression, locomotory behavior, learning or memory, hemostasis, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, cellular response to DNA damage stimulus, apoptotic process, 287 366 258 440 518 505 552 320 340 ENSG00000161643 chr19 49969673 49975814 + SIGLEC16 transcribed_unprocessed_pseudogene 400709 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0033691, GO:0030246, GO:0005515, sialic acid binding, carbohydrate binding, protein binding, GO:1900426, GO:0045087, GO:0032755, GO:0007155, positive regulation of defense response to bacterium, innate immune response, positive regulation of interleukin-6 production, cell adhesion, 6 6 7 21 21 46 21 8 29 ENSG00000161647 chr17 43800799 43833170 - MPP3 protein_coding This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]. 4356 GO:0005515, protein binding, 0 0 0 0 1 0 0 1 0 ENSG00000161649 chr17 43847148 43863629 + CD300LG protein_coding Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008]. 146894 GO:0032585, GO:0016324, GO:0016323, GO:0016021, GO:0005886, GO:0005886, multivesicular body membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0002376, regulation of immune response, immune system process, 0 0 0 0 0 0 0 0 0 ENSG00000161652 chr19 50152548 50163195 - IZUMO2 protein_coding 126123 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000161653 chr17 44004546 44009063 + NAGS protein_coding The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]. 162417 GO:0005759, GO:0005759, GO:0005739, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0103045, GO:0034618, GO:0004042, GO:0004042, GO:0004042, GO:0004042, GO:0003991, methione N-acyltransferase activity, arginine binding, acetyl-CoA:L-glutamate N-acetyltransferase activity, acetyl-CoA:L-glutamate N-acetyltransferase activity, acetyl-CoA:L-glutamate N-acetyltransferase activity, acetyl-CoA:L-glutamate N-acetyltransferase activity, acetylglutamate kinase activity, GO:0016310, GO:0006536, GO:0006536, GO:0006526, GO:0006526, GO:0000050, phosphorylation, glutamate metabolic process, glutamate metabolic process, arginine biosynthetic process, arginine biosynthetic process, urea cycle, 10 3 7 3 1 0 0 4 2 ENSG00000161654 chr17 44034635 44067619 - LSM12 protein_coding 124801 GO:0005515, protein binding, 101 74 130 90 69 77 92 62 72 ENSG00000161664 chr17 44170447 44179083 + ASB16 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]. 92591 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 37 38 42 24 31 31 41 17 32 ENSG00000161671 chr19 50476400 50490870 + EMC10 protein_coding 284361 GO:0072546, GO:0072546, GO:0016021, GO:0005576, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, integral component of membrane, extracellular region, GO:1900745, GO:0045766, GO:0010595, GO:0001938, GO:0001525, positive regulation of p38MAPK cascade, positive regulation of angiogenesis, positive regulation of endothelial cell migration, positive regulation of endothelial cell proliferation, angiogenesis, 115 126 170 146 77 174 152 109 115 ENSG00000161677 chr19 50505998 50511353 - JOSD2 protein_coding This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 126119 GO:0005829, cytosol, GO:0005515, GO:0004843, GO:0004843, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0016579, GO:0016579, GO:0016579, protein deubiquitination, protein deubiquitination, protein deubiquitination, 17 35 26 39 27 39 30 25 33 ENSG00000161681 chr19 50661827 50719450 - SHANK1 protein_coding This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]. 50944 GO:0098978, GO:0060076, GO:0045211, GO:0045211, GO:0045211, GO:0043197, GO:0043197, GO:0043005, GO:0030425, GO:0017146, GO:0016020, GO:0014069, GO:0014069, GO:0008328, GO:0008328, GO:0005886, GO:0005886, GO:0005829, glutamatergic synapse, excitatory synapse, postsynaptic membrane, postsynaptic membrane, postsynaptic membrane, dendritic spine, dendritic spine, neuron projection, dendrite, NMDA selective glutamate receptor complex, membrane, postsynaptic density, postsynaptic density, ionotropic glutamate receptor complex, ionotropic glutamate receptor complex, plasma membrane, plasma membrane, cytosol, GO:0097110, GO:0071532, GO:0044877, GO:0042802, GO:0035255, GO:0035255, GO:0031877, GO:0030160, GO:0030160, GO:0017124, GO:0008022, GO:0005515, scaffold protein binding, ankyrin repeat binding, protein-containing complex binding, identical protein binding, ionotropic glutamate receptor binding, ionotropic glutamate receptor binding, somatostatin receptor binding, synaptic receptor adaptor activity, synaptic receptor adaptor activity, SH3 domain binding, protein C-terminus binding, protein binding, GO:2000463, GO:2000463, GO:2000311, GO:2000311, GO:0097107, GO:0071625, GO:0065003, GO:0060999, GO:0060999, GO:0060997, GO:0060997, GO:0060291, GO:0060074, GO:0060013, GO:0051968, GO:0051124, GO:0050894, GO:0050885, GO:0048854, GO:0046959, GO:0042048, GO:0035418, GO:0035176, GO:0032232, GO:0030534, GO:0008306, GO:0007616, GO:0007610, positive regulation of excitatory postsynaptic potential, positive regulation of excitatory postsynaptic potential, regulation of AMPA receptor activity, regulation of AMPA receptor activity, postsynaptic density assembly, vocalization behavior, protein-containing complex assembly, positive regulation of dendritic spine development, positive regulation of dendritic spine development, dendritic spine morphogenesis, dendritic spine morphogenesis, long-term synaptic potentiation, synapse maturation, righting reflex, positive regulation of synaptic transmission, glutamatergic, synaptic growth at neuromuscular junction, determination of affect, neuromuscular process controlling balance, brain morphogenesis, habituation, olfactory behavior, protein localization to synapse, social behavior, negative regulation of actin filament bundle assembly, adult behavior, associative learning, long-term memory, behavior, 1 0 0 0 0 3 3 0 1 ENSG00000161682 chr17 44353215 44363875 - FAM171A2 protein_coding 284069 GO:0016021, integral component of membrane, 2 1 0 2 0 0 0 0 0 ENSG00000161692 chr17 44708608 44752264 + DBF4B protein_coding This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]. 80174 GO:0043231, GO:0031431, GO:0016235, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, Dbf4-dependent protein kinase complex, aggresome, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0043539, GO:0030295, GO:0019901, GO:0008270, GO:0005515, GO:0003676, protein serine/threonine kinase activator activity, protein kinase activator activity, protein kinase binding, zinc ion binding, protein binding, nucleic acid binding, GO:1901987, GO:0071902, GO:0032147, GO:0010971, GO:0010571, GO:0010571, GO:0008284, GO:0007049, regulation of cell cycle phase transition, positive regulation of protein serine/threonine kinase activity, activation of protein kinase activity, positive regulation of G2/M transition of mitotic cell cycle, positive regulation of nuclear cell cycle DNA replication, positive regulation of nuclear cell cycle DNA replication, positive regulation of cell population proliferation, cell cycle, 29 36 46 21 35 41 53 37 37 ENSG00000161714 chr17 45108967 45133354 - PLCD3 protein_coding This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]. 113026 GO:0032154, GO:0005886, GO:0005829, cleavage furrow, plasma membrane, cytosol, GO:0046872, GO:0004435, metal ion binding, phosphatidylinositol phospholipase C activity, GO:0060716, GO:0048015, GO:0043647, GO:0042127, GO:0016042, GO:0001525, labyrinthine layer blood vessel development, phosphatidylinositol-mediated signaling, inositol phosphate metabolic process, regulation of cell population proliferation, lipid catabolic process, angiogenesis, 11 14 30 2 3 13 6 7 1 ENSG00000161791 chr12 49636499 49708165 - FMNL3 protein_coding The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 91010 GO:0043231, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005737, intracellular membrane-bounded organelle, plasma membrane, cytosol, cytosol, cytosol, Golgi apparatus, cytoplasm, GO:0051015, GO:0032794, GO:0031267, actin filament binding, GTPase activating protein binding, small GTPase binding, GO:0030866, GO:0016477, GO:0016477, GO:0008360, GO:0008360, GO:0007010, GO:0001525, cortical actin cytoskeleton organization, cell migration, cell migration, regulation of cell shape, regulation of cell shape, cytoskeleton organization, angiogenesis, 52 68 139 110 41 148 99 69 117 ENSG00000161798 chr12 49961870 49965681 + AQP5 protein_coding Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]. 362 GO:0070062, GO:0030659, GO:0016324, GO:0016324, GO:0016021, GO:0009925, GO:0005902, GO:0005887, GO:0005886, GO:0005886, GO:0005783, extracellular exosome, cytoplasmic vesicle membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, basal plasma membrane, microvillus, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0042802, GO:0015250, GO:0015250, GO:0005515, identical protein binding, water channel activity, water channel activity, protein binding, GO:0071476, GO:0055085, GO:0051289, GO:0048593, GO:0046541, GO:0042476, GO:0030157, GO:0015670, GO:0015670, GO:0006833, GO:0006833, GO:0006833, cellular hypotonic response, transmembrane transport, protein homotetramerization, camera-type eye morphogenesis, saliva secretion, odontogenesis, pancreatic juice secretion, carbon dioxide transport, carbon dioxide transport, water transport, water transport, water transport, 0 0 0 3 0 0 0 0 0 ENSG00000161800 chr12 49976923 50033136 - RACGAP1 protein_coding This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]. 29127 GO:0097149, GO:0090543, GO:0072686, GO:0072686, GO:0070062, GO:0051233, GO:0032154, GO:0031234, GO:0030496, GO:0005874, GO:0005829, GO:0005654, GO:0005634, GO:0001669, centralspindlin complex, Flemming body, mitotic spindle, mitotic spindle, extracellular exosome, spindle midzone, cleavage furrow, extrinsic component of cytoplasmic side of plasma membrane, midbody, microtubule, cytosol, nucleoplasm, nucleus, acrosomal vesicle, GO:0048487, GO:0046872, GO:0043015, GO:0043014, GO:0019901, GO:0008017, GO:0005547, GO:0005515, GO:0005096, GO:0005096, beta-tubulin binding, metal ion binding, gamma-tubulin binding, alpha-tubulin binding, protein kinase binding, microtubule binding, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0051988, GO:0051256, GO:0051056, GO:0045995, GO:0043547, GO:0035556, GO:0032467, GO:0032467, GO:0019886, GO:0008272, GO:0007405, GO:0007283, GO:0007018, GO:0006890, GO:0000915, GO:0000281, GO:0000281, regulation of attachment of spindle microtubules to kinetochore, mitotic spindle midzone assembly, regulation of small GTPase mediated signal transduction, regulation of embryonic development, positive regulation of GTPase activity, intracellular signal transduction, positive regulation of cytokinesis, positive regulation of cytokinesis, antigen processing and presentation of exogenous peptide antigen via MHC class II, sulfate transport, neuroblast proliferation, spermatogenesis, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, actomyosin contractile ring assembly, mitotic cytokinesis, mitotic cytokinesis, 37 32 41 50 57 44 45 32 50 ENSG00000161807 chr19 9114828 9115763 - OR7G1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 125962 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000161813 chr12 50392383 50480004 + LARP4 protein_coding 113251 GO:0022627, GO:0016020, GO:0010494, GO:0005844, GO:0005829, cytosolic small ribosomal subunit, membrane, cytoplasmic stress granule, polysome, cytosol, GO:0008143, GO:0005515, GO:0003730, GO:0003723, poly(A) binding, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0045727, GO:0022604, GO:0010608, GO:0007010, GO:0006412, positive regulation of translation, regulation of cell morphogenesis, posttranscriptional regulation of gene expression, cytoskeleton organization, translation, 23 33 52 73 40 85 69 25 47 ENSG00000161835 chr12 52006940 52015889 + GRASP protein_coding This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]. 160622 GO:0098978, GO:0098685, GO:0048471, GO:0045211, GO:0014069, GO:0005886, glutamatergic synapse, Schaffer collateral - CA1 synapse, perinuclear region of cytoplasm, postsynaptic membrane, postsynaptic density, plasma membrane, GO:0042802, GO:0031267, GO:0030165, identical protein binding, small GTPase binding, PDZ domain binding, GO:0099152, GO:0008104, GO:0007165, regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane, protein localization, signal transduction, 50 40 166 447 115 386 286 106 293 ENSG00000161847 chr19 10316212 10333640 - RAVER1 protein_coding 125950 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003723, GO:0003676, protein binding, RNA binding, nucleic acid binding, GO:0000398, mRNA splicing, via spliceosome, 332 394 394 267 274 270 190 206 261 ENSG00000161849 chr12 52377812 52385652 - KRT84 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]. 3890 GO:0070062, GO:0045095, GO:0005829, extracellular exosome, keratin filament, cytosol, GO:0030280, GO:0005200, structural constituent of skin epidermis, structural constituent of cytoskeleton, GO:0070268, GO:0045616, GO:0035878, GO:0031424, GO:0007010, GO:0001942, cornification, regulation of keratinocyte differentiation, nail development, keratinization, cytoskeleton organization, hair follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000161850 chr12 52393931 52406355 - KRT82 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]. 3888 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0030280, GO:0005515, structural constituent of skin epidermis, protein binding, GO:0070268, GO:0031424, GO:0008150, cornification, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000161860 chr19 12898786 12919276 - SYCE2 protein_coding The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012]. 256126 GO:0005654, GO:0000801, GO:0000801, nucleoplasm, central element, central element, GO:0005515, protein binding, GO:0051301, GO:0007130, cell division, synaptonemal complex assembly, 3 4 5 10 21 6 9 8 2 ENSG00000161888 chr19 11131520 11155808 - SPC24 protein_coding 147841 GO:0031262, GO:0005829, GO:0005730, GO:0005654, GO:0000777, Ndc80 complex, cytosol, nucleolus, nucleoplasm, condensed chromosome kinetochore, GO:0005515, protein binding, GO:0051301, GO:0007049, cell division, cell cycle, 2 8 19 9 9 28 14 6 15 ENSG00000161896 chr6 33721670 33746905 - IP6K3 protein_coding This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]. 117283 GO:0005829, GO:0005737, GO:0005737, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, GO:0052724, GO:0052723, GO:0016301, GO:0005524, GO:0005515, GO:0000832, GO:0000831, GO:0000828, GO:0000828, GO:0000827, inositol hexakisphosphate 3-kinase activity, inositol hexakisphosphate 1-kinase activity, kinase activity, ATP binding, protein binding, inositol hexakisphosphate 5-kinase activity, inositol hexakisphosphate 6-kinase activity, inositol hexakisphosphate kinase activity, inositol hexakisphosphate kinase activity, inositol-1,3,4,5,6-pentakisphosphate kinase activity, GO:0046854, GO:0046488, GO:0043647, GO:0032958, GO:0032958, GO:0006468, phosphatidylinositol phosphorylation, phosphatidylinositol metabolic process, inositol phosphate metabolic process, inositol phosphate biosynthetic process, inositol phosphate biosynthetic process, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000161904 chr6 33771202 33789136 - LEMD2 protein_coding This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]. 221496 GO:0031965, GO:0016021, GO:0016020, GO:0005783, GO:0005639, GO:0005639, GO:0005637, GO:0005635, GO:0000785, nuclear membrane, integral component of membrane, membrane, endoplasmic reticulum, integral component of nuclear inner membrane, integral component of nuclear inner membrane, nuclear inner membrane, nuclear envelope, chromatin, GO:0031490, GO:0005515, chromatin DNA binding, protein binding, GO:0071168, GO:0060914, GO:0051898, GO:0043409, GO:0035914, GO:0030514, GO:0022008, GO:0006998, GO:0006998, protein localization to chromatin, heart formation, negative regulation of protein kinase B signaling, negative regulation of MAPK cascade, skeletal muscle cell differentiation, negative regulation of BMP signaling pathway, neurogenesis, nuclear envelope organization, nuclear envelope organization, 566 519 700 521 791 630 636 596 587 ENSG00000161905 chr17 4630902 4642294 - ALOX15 protein_coding This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on various polyunsaturated fatty acid substrates to generate various bioactive lipid mediators such as eicosanoids, hepoxilins, lipoxins, and other molecules. The encoded enzyme and its reaction products have been shown to regulate inflammation and immunity. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]. 246 GO:0031234, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005811, extrinsic component of cytoplasmic side of plasma membrane, membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, cytosol, lipid droplet, GO:0051120, GO:0050473, GO:0050473, GO:0050473, GO:0050473, GO:0047977, GO:0016702, GO:0016165, GO:0005546, GO:0005515, GO:0005506, GO:0004052, GO:0004052, hepoxilin A3 synthase activity, arachidonate 15-lipoxygenase activity, arachidonate 15-lipoxygenase activity, arachidonate 15-lipoxygenase activity, arachidonate 15-lipoxygenase activity, hepoxilin-epoxide hydrolase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, linoleate 13S-lipoxygenase activity, phosphatidylinositol-4,5-bisphosphate binding, protein binding, iron ion binding, arachidonate 12(S)-lipoxygenase activity, arachidonate 12(S)-lipoxygenase activity, GO:2001303, GO:1901074, GO:0071277, GO:0070374, GO:0051122, GO:0051122, GO:0050727, GO:0043651, GO:0043651, GO:0043277, GO:0042759, GO:0042060, GO:0035963, GO:0035358, GO:0034976, GO:0034440, GO:0034116, GO:0030838, GO:0030282, GO:0019395, GO:0019372, GO:0019372, GO:0019372, GO:0019369, GO:0019369, GO:0019369, GO:0019221, GO:0010811, GO:0006954, GO:0006691, GO:0006646, GO:0006629, GO:0002820, GO:0001503, lipoxin A4 biosynthetic process, regulation of engulfment of apoptotic cell, cellular response to calcium ion, positive regulation of ERK1 and ERK2 cascade, hepoxilin biosynthetic process, hepoxilin biosynthetic process, regulation of inflammatory response, linoleic acid metabolic process, linoleic acid metabolic process, apoptotic cell clearance, long-chain fatty acid biosynthetic process, wound healing, cellular response to interleukin-13, regulation of peroxisome proliferator activated receptor signaling pathway, response to endoplasmic reticulum stress, lipid oxidation, positive regulation of heterotypic cell-cell adhesion, positive regulation of actin filament polymerization, bone mineralization, fatty acid oxidation, lipoxygenase pathway, lipoxygenase pathway, lipoxygenase pathway, arachidonic acid metabolic process, arachidonic acid metabolic process, arachidonic acid metabolic process, cytokine-mediated signaling pathway, positive regulation of cell-substrate adhesion, inflammatory response, leukotriene metabolic process, phosphatidylethanolamine biosynthetic process, lipid metabolic process, negative regulation of adaptive immune response, ossification, 178 155 352 0 6 0 8 3 0 ENSG00000161911 chr6 41149342 41154337 - TREML1 protein_coding This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]. 340205 GO:0031091, GO:0016021, GO:0009986, GO:0005886, GO:0005886, platelet alpha granule, integral component of membrane, cell surface, plasma membrane, plasma membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0045087, GO:0030168, GO:0030168, regulation of immune response, innate immune response, platelet activation, platelet activation, 2 9 10 10 20 21 9 3 6 ENSG00000161912 chr6 41101022 41140835 + ADCY10P1 transcribed_unprocessed_pseudogene 221442 194 241 338 270 389 585 318 253 444 ENSG00000161914 chr19 11483427 11505923 - ZNF653 protein_coding 115950 GO:0005634, GO:0005634, GO:0005576, nucleus, nucleus, extracellular region, GO:0050682, GO:0046872, GO:0008134, GO:0005515, GO:0003714, GO:0003712, GO:0003677, AF-2 domain binding, metal ion binding, transcription factor binding, protein binding, transcription corepressor activity, transcription coregulator activity, DNA binding, GO:1903507, GO:1900116, GO:0006357, negative regulation of nucleic acid-templated transcription, extracellular negative regulation of signal transduction, regulation of transcription by RNA polymerase II, 21 14 25 14 31 5 14 15 19 ENSG00000161920 chr17 4731428 4733610 + MED11 protein_coding MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]. 400569 GO:0016592, GO:0016592, GO:0000151, mediator complex, mediator complex, ubiquitin ligase complex, GO:0061630, GO:0005515, GO:0003712, ubiquitin protein ligase activity, protein binding, transcription coregulator activity, GO:0016567, GO:0006357, protein ubiquitination, regulation of transcription by RNA polymerase II, 182 202 206 83 126 113 72 108 72 ENSG00000161921 chr17 4733526 4739922 - CXCL16 protein_coding 58191 GO:0016021, GO:0016020, GO:0005886, GO:0005615, GO:0005615, GO:0005576, integral component of membrane, membrane, plasma membrane, extracellular space, extracellular space, extracellular region, GO:0008009, GO:0008009, GO:0008009, GO:0005044, GO:0005044, GO:0005041, GO:0005041, chemokine activity, chemokine activity, chemokine activity, scavenger receptor activity, scavenger receptor activity, low-density lipoprotein particle receptor activity, low-density lipoprotein particle receptor activity, GO:0034612, GO:0034341, GO:0034097, GO:0030335, GO:0030335, GO:0030307, GO:0010818, GO:0007186, GO:0006935, GO:0006898, response to tumor necrosis factor, response to interferon-gamma, response to cytokine, positive regulation of cell migration, positive regulation of cell migration, positive regulation of cell growth, T cell chemotaxis, G protein-coupled receptor signaling pathway, chemotaxis, receptor-mediated endocytosis, 1308 2544 1652 802 1682 938 1091 1803 992 ENSG00000161929 chr17 5208961 5234860 - SCIMP protein_coding This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]. 388325 GO:0097197, GO:0045335, GO:0043235, GO:0031259, GO:0031256, GO:0030175, GO:0016021, GO:0016020, GO:0001772, GO:0001772, GO:0001726, tetraspanin-enriched microdomain, phagocytic vesicle, receptor complex, uropod membrane, leading edge membrane, filopodium, integral component of membrane, membrane, immunological synapse, immunological synapse, ruffle, GO:0060090, GO:0005515, molecular adaptor activity, protein binding, GO:0071226, GO:0070374, GO:0038123, GO:0034154, GO:0034142, GO:0034138, GO:0032874, GO:0032755, GO:0032735, GO:0031666, GO:0002732, GO:0002367, cellular response to molecule of fungal origin, positive regulation of ERK1 and ERK2 cascade, toll-like receptor TLR1:TLR2 signaling pathway, toll-like receptor 7 signaling pathway, toll-like receptor 4 signaling pathway, toll-like receptor 3 signaling pathway, positive regulation of stress-activated MAPK cascade, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, positive regulation of lipopolysaccharide-mediated signaling pathway, positive regulation of dendritic cell cytokine production, cytokine production involved in immune response, 16 12 17 13 22 40 20 13 10 ENSG00000161939 chr17 7012635 7017520 + RNASEK-C17orf49 protein_coding 0 0 0 0 0 1 0 1 0 ENSG00000161940 chr17 7023020 7030290 + BCL6B protein_coding 255877 GO:0005654, nucleoplasm, GO:1990837, GO:0046872, GO:0001227, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050727, GO:0045595, GO:0042127, GO:0042092, GO:0006357, GO:0002682, GO:0001817, GO:0000122, regulation of inflammatory response, regulation of cell differentiation, regulation of cell population proliferation, type 2 immune response, regulation of transcription by RNA polymerase II, regulation of immune system process, regulation of cytokine production, negative regulation of transcription by RNA polymerase II, 0 1 1 0 0 0 0 0 0 ENSG00000161944 chr17 7101322 7115700 - ASGR2 protein_coding This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 433 GO:0048471, GO:0044322, GO:0016021, GO:0005886, perinuclear region of cytoplasm, endoplasmic reticulum quality control compartment, integral component of membrane, plasma membrane, GO:0030246, GO:0005515, GO:0004873, carbohydrate binding, protein binding, asialoglycoprotein receptor activity, GO:0055088, GO:0031647, GO:0030282, GO:0018279, GO:0016032, GO:0007166, GO:0006897, lipid homeostasis, regulation of protein stability, bone mineralization, protein N-linked glycosylation via asparagine, viral process, cell surface receptor signaling pathway, endocytosis, 2 4 9 10 17 12 10 6 3 ENSG00000161955 chr17 7558292 7561608 + TNFSF13 protein_coding The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]. 8741 GO:0070062, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005615, GO:0005576, extracellular exosome, plasma membrane, cytosol, cytoplasm, nucleoplasm, extracellular space, extracellular region, GO:0005164, GO:0005125, GO:0005102, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:0048298, GO:0048298, GO:0043488, GO:0033209, GO:0008284, GO:0007165, GO:0006955, positive regulation of isotype switching to IgA isotypes, positive regulation of isotype switching to IgA isotypes, regulation of mRNA stability, tumor necrosis factor-mediated signaling pathway, positive regulation of cell population proliferation, signal transduction, immune response, 39 38 49 11 29 23 17 28 10 ENSG00000161956 chr17 7561875 7571969 + SENP3 protein_coding The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]. 26168 GO:0071339, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, MLL1 complex, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0016929, GO:0008234, GO:0005515, SUMO-specific protease activity, cysteine-type peptidase activity, protein binding, GO:0016926, GO:0006364, protein desumoylation, rRNA processing, 51 60 54 37 53 71 33 37 29 ENSG00000161958 chr17 7438273 7444937 + FGF11 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 2256 GO:0005737, GO:0005634, GO:0005576, cytoplasm, nucleus, extracellular region, GO:0017080, GO:0008083, GO:0005515, sodium channel regulator activity, growth factor activity, protein binding, GO:1905150, GO:0007399, GO:0007267, GO:0007165, regulation of voltage-gated sodium channel activity, nervous system development, cell-cell signaling, signal transduction, 4 6 3 5 4 4 0 0 0 ENSG00000161960 chr17 7572706 7579005 + EIF4A1 protein_coding 1973 GO:0070062, GO:0016281, GO:0016020, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, eukaryotic translation initiation factor 4F complex, membrane, cytosol, cytoplasm, nucleus, GO:0008135, GO:0005524, GO:0005515, GO:0004386, GO:0003743, GO:0003729, GO:0003725, GO:0003724, GO:0003723, GO:0000339, translation factor activity, RNA binding, ATP binding, protein binding, helicase activity, translation initiation factor activity, mRNA binding, double-stranded RNA binding, RNA helicase activity, RNA binding, RNA cap binding, GO:0016032, GO:0006413, GO:0002183, viral process, translational initiation, cytoplasmic translational initiation, 57 112 94 1408 2155 1743 1271 1299 1229 ENSG00000161970 chr17 8377516 8383250 - RPL26 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 6154 GO:1990904, GO:0070062, GO:0022626, GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005654, ribonucleoprotein complex, extracellular exosome, cytosolic ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:0048027, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, mRNA 5'-UTR binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:1904803, GO:1902167, GO:1902164, GO:0071480, GO:0045727, GO:0042273, GO:0042273, GO:0034644, GO:0019083, GO:0006977, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0002181, GO:0000184, regulation of translation involved in cellular response to UV, positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, cellular response to gamma radiation, positive regulation of translation, ribosomal large subunit biogenesis, ribosomal large subunit biogenesis, cellular response to UV, viral transcription, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 31 11 31 68 37 69 39 14 49 ENSG00000161973 chr17 8729934 8745219 - CCDC42 protein_coding 146849 GO:0005515, protein binding, GO:0007286, spermatid development, 0 0 0 1 3 0 0 0 0 ENSG00000161980 chr16 46407 53628 - POLR3K protein_coding This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]. 51728 GO:0005829, GO:0005730, GO:0005666, GO:0005654, cytosol, nucleolus, RNA polymerase III complex, nucleoplasm, GO:0008270, GO:0005515, GO:0003899, GO:0003676, zinc ion binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, nucleic acid binding, GO:0051607, GO:0045087, GO:0042779, GO:0032481, GO:0006386, GO:0006383, defense response to virus, innate immune response, tRNA 3'-trailer cleavage, positive regulation of type I interferon production, termination of RNA polymerase III transcription, transcription by RNA polymerase III, 17 9 31 16 1 55 12 6 23 ENSG00000161981 chr16 53010 57669 + SNRNP25 protein_coding Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]. 79622 GO:0045171, GO:0005829, GO:0005689, GO:0005689, GO:0005654, GO:0005654, GO:0005634, intercellular bridge, cytosol, U12-type spliceosomal complex, U12-type spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0008380, GO:0000398, RNA splicing, mRNA splicing, via spliceosome, 25 28 40 23 16 34 13 23 23 ENSG00000161992 chr16 560422 565528 + PRR35 protein_coding 146325 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000161996 chr16 649311 667833 + WDR90 protein_coding 197335 GO:0005814, GO:0005814, GO:0005737, centriole, centriole, cytoplasm, GO:0005515, protein binding, GO:0060271, GO:0060271, cilium assembly, cilium assembly, 13 10 15 24 19 15 27 12 14 ENSG00000161999 chr16 681671 684528 - JMJD8 protein_coding 339123 GO:0005788, GO:0005783, GO:0005737, GO:0005634, endoplasmic reticulum lumen, endoplasmic reticulum, cytoplasm, nucleus, GO:0005515, protein binding, GO:1903672, GO:1903302, GO:0043123, GO:0006110, positive regulation of sprouting angiogenesis, regulation of pyruvate kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of glycolytic process, 150 158 145 125 209 208 152 151 145 ENSG00000162004 chr16 722582 726954 - CCDC78 protein_coding The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]. 124093 GO:0098536, GO:0048471, GO:0042383, GO:0016529, GO:0005814, deuterosome, perinuclear region of cytoplasm, sarcolemma, sarcoplasmic reticulum, centriole, GO:0098535, GO:0030030, GO:0003009, de novo centriole assembly involved in multi-ciliated epithelial cell differentiation, cell projection organization, skeletal muscle contraction, 2 5 10 4 2 9 8 3 2 ENSG00000162006 chr16 769428 783370 - MSLNL protein_coding 0 0 0 0 0 3 0 0 0 ENSG00000162009 chr16 1078781 1080142 + SSTR5 protein_coding Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010]. 6755 GO:0043005, GO:0005887, GO:0005886, GO:0005886, neuron projection, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042923, GO:0042277, GO:0004994, GO:0004930, neuropeptide binding, peptide binding, somatostatin receptor activity, G protein-coupled receptor activity, GO:0071385, GO:0050796, GO:0042593, GO:0038170, GO:0032467, GO:0008285, GO:0007218, GO:0007187, GO:0007186, cellular response to glucocorticoid stimulus, regulation of insulin secretion, glucose homeostasis, somatostatin signaling pathway, positive regulation of cytokinesis, negative regulation of cell population proliferation, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000162032 chr16 1776712 1793700 - SPSB3 protein_coding 90864 GO:0019005, GO:0005829, SCF ubiquitin ligase complex, cytosol, GO:0005515, protein binding, GO:0043687, GO:0043161, GO:0016567, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, 449 500 607 659 859 856 652 644 702 ENSG00000162039 chr16 1833987 1884294 - MEIOB protein_coding 254528 GO:0005737, GO:0005694, GO:0005634, cytoplasm, chromosome, nucleus, GO:0008310, GO:0008310, GO:0003697, GO:0003697, GO:0003682, single-stranded DNA 3'-5' exodeoxyribonuclease activity, single-stranded DNA 3'-5' exodeoxyribonuclease activity, single-stranded DNA binding, single-stranded DNA binding, chromatin binding, GO:0090305, GO:0009566, GO:0007144, GO:0007141, GO:0007140, GO:0007129, GO:0000724, GO:0000712, GO:0000712, nucleic acid phosphodiester bond hydrolysis, fertilization, female meiosis I, male meiosis I, male meiotic nuclear division, homologous chromosome pairing at meiosis, double-strand break repair via homologous recombination, resolution of meiotic recombination intermediates, resolution of meiotic recombination intermediates, 0 0 0 0 2 0 0 0 0 ENSG00000162040 chr16 1911463 1918440 - HS3ST6 protein_coding 64711 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008467, GO:0008467, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, GO:0006024, GO:0001835, glycosaminoglycan biosynthetic process, blastocyst hatching, 0 0 0 0 0 0 0 0 0 ENSG00000162062 chr16 2460080 2464963 + TEDC2 protein_coding 80178 GO:0005929, GO:0005814, GO:0005737, cilium, centriole, cytoplasm, GO:0005515, protein binding, GO:0045880, positive regulation of smoothened signaling pathway, 0 0 0 0 0 0 2 0 0 ENSG00000162063 chr16 2429394 2458854 + CCNF protein_coding This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008]. 899 GO:0030054, GO:0019005, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005634, GO:0005634, GO:0000307, cell junction, SCF ubiquitin ligase complex, cytosol, centriole, centrosome, centrosome, cytoplasm, nucleus, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0051301, GO:0044772, GO:0043687, GO:0031146, GO:0016567, GO:0010826, GO:0001890, GO:0000320, GO:0000209, GO:0000079, cell division, mitotic cell cycle phase transition, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, negative regulation of centrosome duplication, placenta development, re-entry into mitotic cell cycle, protein polyubiquitination, regulation of cyclin-dependent protein serine/threonine kinase activity, 4 0 3 0 9 7 4 3 2 ENSG00000162065 chr16 2475051 2509560 + TBC1D24 protein_coding This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]. 57465 GO:0043195, GO:0031594, GO:0030659, GO:0030054, GO:0005886, GO:0005737, terminal bouton, neuromuscular junction, cytoplasmic vesicle membrane, cell junction, plasma membrane, cytoplasm, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:1902017, GO:0043547, GO:0036475, GO:0031175, GO:0031175, regulation of cilium assembly, positive regulation of GTPase activity, neuron death in response to oxidative stress, neuron projection development, neuron projection development, 3 1 7 15 0 7 16 3 3 ENSG00000162066 chr16 2520357 2531422 + AMDHD2 protein_coding 51005 GO:0005829, GO:0005634, cytosol, nucleus, GO:0047419, GO:0046872, GO:0008448, GO:0008448, GO:0008448, GO:0005515, N-acetylgalactosamine-6-phosphate deacetylase activity, metal ion binding, N-acetylglucosamine-6-phosphate deacetylase activity, N-acetylglucosamine-6-phosphate deacetylase activity, N-acetylglucosamine-6-phosphate deacetylase activity, protein binding, GO:0019262, GO:0019262, GO:0006048, GO:0006046, GO:0005975, N-acetylneuraminate catabolic process, N-acetylneuraminate catabolic process, UDP-N-acetylglucosamine biosynthetic process, N-acetylglucosamine catabolic process, carbohydrate metabolic process, 338 557 534 1797 1637 1529 2027 1439 1026 ENSG00000162068 chr16 2471499 2474145 + NTN3 protein_coding 4917 GO:0005794, GO:0005604, GO:0005575, Golgi apparatus, basement membrane, cellular_component, GO:0005515, GO:0005102, GO:0003674, protein binding, signaling receptor binding, molecular_function, GO:0016358, GO:0009888, GO:0009887, GO:0008045, GO:0007411, dendrite development, tissue development, animal organ morphogenesis, motor neuron axon guidance, axon guidance, 0 0 0 0 0 0 0 0 0 ENSG00000162069 chr16 3027682 3036926 - BICDL2 protein_coding 146439 GO:0005737, cytoplasm, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0055107, GO:0047496, Golgi to secretory granule transport, vesicle transport along microtubule, 15 23 67 13 13 112 16 16 100 ENSG00000162073 chr16 2969245 2973489 + PAQR4 protein_coding 124222 GO:0016021, integral component of membrane, GO:0038023, signaling receptor activity, 7 5 9 3 2 12 4 7 3 ENSG00000162076 chr16 2883186 2899382 + FLYWCH2 protein_coding 114984 GO:0005575, cellular_component, GO:0003723, RNA binding, GO:0008150, biological_process, 15 14 30 18 14 26 25 9 15 ENSG00000162078 chr16 2830169 2839585 + ZG16B protein_coding 124220 GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, GO:0030246, GO:0005515, GO:0003674, carbohydrate binding, protein binding, molecular_function, GO:0001895, retina homeostasis, 0 0 1 0 0 6 0 0 0 ENSG00000162086 chr16 3305406 3318852 + ZNF75A protein_coding 7627 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0000122, biological_process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 72 81 62 99 105 70 87 61 51 ENSG00000162104 chr16 3953387 4116185 - ADCY9 protein_coding Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]. 115 GO:0030425, GO:0030424, GO:0016021, GO:0005887, GO:0005887, GO:0005886, dendrite, axon, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0005524, GO:0004016, GO:0004016, metal ion binding, ATP binding, adenylate cyclase activity, adenylate cyclase activity, GO:0071880, GO:0071377, GO:0034199, GO:0007193, GO:0007190, GO:0007189, GO:0007189, GO:0007189, GO:0007186, GO:0007165, GO:0006171, GO:0003091, adenylate cyclase-activating adrenergic receptor signaling pathway, cellular response to glucagon stimulus, activation of protein kinase A activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cAMP biosynthetic process, renal water homeostasis, 16 24 50 35 27 71 28 18 44 ENSG00000162105 chr11 70467856 71252577 - SHANK2 protein_coding This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 22941 GO:0060170, GO:0045211, GO:0045211, GO:0043197, GO:0043197, GO:0043025, GO:0043005, GO:0031526, GO:0030426, GO:0016324, GO:0014069, GO:0014069, GO:0008328, GO:0008328, GO:0005886, GO:0005883, GO:0005829, GO:0005575, GO:0001917, GO:0001750, ciliary membrane, postsynaptic membrane, postsynaptic membrane, dendritic spine, dendritic spine, neuronal cell body, neuron projection, brush border membrane, growth cone, apical plasma membrane, postsynaptic density, postsynaptic density, ionotropic glutamate receptor complex, ionotropic glutamate receptor complex, plasma membrane, neurofilament, cytosol, cellular_component, photoreceptor inner segment, photoreceptor outer segment, GO:0035255, GO:0035255, GO:0030160, GO:0030160, GO:0017124, GO:0005515, ionotropic glutamate receptor binding, ionotropic glutamate receptor binding, synaptic receptor adaptor activity, synaptic receptor adaptor activity, SH3 domain binding, protein binding, GO:2000463, GO:2000311, GO:0097107, GO:0071625, GO:0060999, GO:0060997, GO:0060292, GO:0060291, GO:0060291, GO:0051968, GO:0051124, GO:0048854, GO:0035331, GO:0035176, GO:0030534, GO:0008284, GO:0007612, GO:0007610, GO:0007416, positive regulation of excitatory postsynaptic potential, regulation of AMPA receptor activity, postsynaptic density assembly, vocalization behavior, positive regulation of dendritic spine development, dendritic spine morphogenesis, long-term synaptic depression, long-term synaptic potentiation, long-term synaptic potentiation, positive regulation of synaptic transmission, glutamatergic, synaptic growth at neuromuscular junction, brain morphogenesis, negative regulation of hippo signaling, social behavior, adult behavior, positive regulation of cell population proliferation, learning, behavior, synapse assembly, 0 0 0 0 0 0 0 0 0 ENSG00000162129 chr11 72285495 72434680 - CLPB protein_coding This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 81570 GO:0005758, GO:0005739, GO:0005737, mitochondrial intermembrane space, mitochondrion, cytoplasm, GO:0016887, GO:0005524, GO:0005515, GO:0003674, ATPase activity, ATP binding, protein binding, molecular_function, GO:0140374, GO:0039529, GO:0034605, GO:0034605, antiviral innate immune response, RIG-I signaling pathway, cellular response to heat, cellular response to heat, 16 11 26 20 32 65 38 26 34 ENSG00000162139 chr11 74988134 75018893 + NEU3 protein_coding This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]. 10825 GO:0055038, GO:0043231, GO:0031901, GO:0016020, GO:0009897, GO:0005901, GO:0005886, GO:0005886, GO:0005765, GO:0005737, recycling endosome membrane, intracellular membrane-bounded organelle, early endosome membrane, membrane, external side of plasma membrane, caveola, plasma membrane, plasma membrane, lysosomal membrane, cytoplasm, GO:0052796, GO:0052796, GO:0052795, GO:0052794, GO:0052794, GO:0016997, GO:0005515, GO:0004308, GO:0004308, GO:0004308, exo-alpha-(2->8)-sialidase activity, exo-alpha-(2->8)-sialidase activity, exo-alpha-(2->6)-sialidase activity, exo-alpha-(2->3)-sialidase activity, exo-alpha-(2->3)-sialidase activity, alpha-sialidase activity, protein binding, exo-alpha-sialidase activity, exo-alpha-sialidase activity, exo-alpha-sialidase activity, GO:1900186, GO:0045742, GO:0009313, GO:0009313, GO:0006689, GO:0006689, GO:0006687, GO:0005975, negative regulation of clathrin-dependent endocytosis, positive regulation of epidermal growth factor receptor signaling pathway, oligosaccharide catabolic process, oligosaccharide catabolic process, ganglioside catabolic process, ganglioside catabolic process, glycosphingolipid metabolic process, carbohydrate metabolic process, 132 245 166 189 202 190 178 145 139 ENSG00000162144 chr11 61348745 61362299 - CYB561A3 protein_coding 220002 GO:0043231, GO:0031902, GO:0016021, GO:0005829, GO:0005765, GO:0005765, GO:0005765, GO:0005730, GO:0005654, intracellular membrane-bounded organelle, late endosome membrane, integral component of membrane, cytosol, lysosomal membrane, lysosomal membrane, lysosomal membrane, nucleolus, nucleoplasm, GO:0046872, GO:0016491, GO:0005515, metal ion binding, oxidoreductase activity, protein binding, GO:0055114, oxidation-reduction process, 175 177 228 133 191 218 186 155 154 ENSG00000162148 chr11 61481120 61490931 + PPP1R32 protein_coding 220004 GO:0036064, ciliary basal body, GO:0019902, GO:0019902, GO:0005515, phosphatase binding, phosphatase binding, protein binding, 19 45 31 35 20 34 30 17 25 ENSG00000162174 chr11 62337448 62393412 + ASRGL1 protein_coding 80150 GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0001917, cytosol, cytoplasm, cytoplasm, cytoplasm, nucleus, photoreceptor inner segment, GO:0008798, GO:0008798, GO:0004067, GO:0004067, GO:0004067, GO:0003948, beta-aspartyl-peptidase activity, beta-aspartyl-peptidase activity, asparaginase activity, asparaginase activity, asparaginase activity, N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity, GO:0033345, GO:0033345, GO:0033345, GO:0006559, GO:0006508, asparagine catabolic process via L-aspartate, asparagine catabolic process via L-aspartate, asparagine catabolic process via L-aspartate, L-phenylalanine catabolic process, proteolysis, 15 13 30 9 11 15 15 6 0 ENSG00000162188 chr11 62707658 62709201 + GNG3 protein_coding Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]. 2785 GO:0044297, GO:0031680, GO:0030425, GO:0014069, GO:0005886, GO:0005834, cell body, G-protein beta/gamma-subunit complex, dendrite, postsynaptic density, plasma membrane, heterotrimeric G-protein complex, GO:0031681, GO:0005515, GO:0003924, G-protein beta-subunit binding, protein binding, GTPase activity, GO:0007204, GO:0007186, GO:0000187, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, activation of MAPK activity, 4 9 4 3 5 2 1 3 2 ENSG00000162191 chr11 62676498 62679117 - UBXN1 protein_coding 51035 GO:0043025, GO:0034098, GO:0030425, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005634, neuronal cell body, VCP-NPL4-UFD1 AAA ATPase complex, dendrite, cytosol, cytosol, endoplasmic reticulum, cytoplasm, nucleus, GO:1904855, GO:0071796, GO:0051117, GO:0043130, GO:0036435, GO:0031625, GO:0031593, GO:0005515, proteasome regulatory particle binding, K6-linked polyubiquitin modification-dependent protein binding, ATPase binding, ubiquitin binding, K48-linked polyubiquitin modification-dependent protein binding, ubiquitin protein ligase binding, polyubiquitin modification-dependent protein binding, protein binding, GO:2000157, GO:1904293, GO:1903094, GO:0043161, GO:0032435, GO:0031397, GO:0016032, GO:0006457, negative regulation of ubiquitin-specific protease activity, negative regulation of ERAD pathway, negative regulation of protein K48-linked deubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, viral process, protein folding, 726 695 909 824 750 997 862 727 714 ENSG00000162194 chr11 62662817 62672255 - LBHD1 protein_coding This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromosome 11 open reading frame 98 gene. [provided by RefSeq, Nov 2017]. 79081 GO:0005634, nucleus, GO:0045893, positive regulation of transcription, DNA-templated, 14 14 13 91 56 94 66 39 61 ENSG00000162222 chr11 62728069 62740293 + TTC9C protein_coding 283237 GO:0005515, protein binding, 44 40 50 38 51 51 39 45 28 ENSG00000162227 chr11 62771303 62787342 + TAF6L protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]. 10629 GO:0070062, GO:0046695, GO:0030914, GO:0030914, GO:0005669, GO:0005654, GO:0005634, GO:0000124, GO:0000118, extracellular exosome, SLIK (SAGA-like) complex, STAGA complex, STAGA complex, transcription factor TFIID complex, nucleoplasm, nucleus, SAGA complex, histone deacetylase complex, GO:0046982, GO:0016251, GO:0005515, GO:0003713, GO:0003713, GO:0003677, protein heterodimerization activity, RNA polymerase II general transcription initiation factor activity, protein binding, transcription coactivator activity, transcription coactivator activity, DNA binding, GO:1904672, GO:0045944, GO:0043966, GO:0016573, GO:0006367, GO:0006357, GO:0006355, GO:0006338, regulation of somatic stem cell population maintenance, positive regulation of transcription by RNA polymerase II, histone H3 acetylation, histone acetylation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin remodeling, 20 17 20 26 17 30 23 14 25 ENSG00000162231 chr11 62792123 62806302 - NXF1 protein_coding This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 10482 GO:0042405, GO:0016607, GO:0010494, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005643, GO:0005634, GO:0005634, GO:0000346, nuclear inclusion body, nuclear speck, cytoplasmic stress granule, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nuclear pore, nucleus, nucleus, transcription export complex, GO:0005515, GO:0003729, GO:0003723, GO:0003723, protein binding, mRNA binding, RNA binding, RNA binding, GO:0016973, GO:0016032, GO:0006406, GO:0006406, GO:0006405, poly(A)+ mRNA export from nucleus, viral process, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 1642 2060 2118 4559 6287 5466 4281 3665 3920 ENSG00000162236 chr11 62806897 62832088 - STX5 protein_coding This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 6811 GO:0033116, GO:0031982, GO:0031201, GO:0031201, GO:0016021, GO:0012507, GO:0012505, GO:0005829, GO:0005794, GO:0005789, GO:0000139, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, vesicle, SNARE complex, SNARE complex, integral component of membrane, ER to Golgi transport vesicle membrane, endomembrane system, cytosol, Golgi apparatus, endoplasmic reticulum membrane, Golgi membrane, Golgi membrane, GO:0047485, GO:0045296, GO:0005515, GO:0005484, GO:0005484, GO:0000149, protein N-terminus binding, cadherin binding, protein binding, SNAP receptor activity, SNAP receptor activity, SNARE binding, GO:1903358, GO:0090166, GO:0048280, GO:0048278, GO:0048208, GO:0045732, GO:0042147, GO:0034498, GO:0006906, GO:0006888, GO:0006888, GO:0006886, regulation of Golgi organization, Golgi disassembly, vesicle fusion with Golgi apparatus, vesicle docking, COPII vesicle coating, positive regulation of protein catabolic process, retrograde transport, endosome to Golgi, early endosome to Golgi transport, vesicle fusion, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 948 802 1137 423 462 583 519 463 468 ENSG00000162241 chr11 65375192 65383701 - SLC25A45 protein_coding SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]. 283130 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0015227, GO:0005347, acyl carnitine transmembrane transporter activity, ATP transmembrane transporter activity, GO:1902616, GO:0015867, GO:0006865, GO:0006844, acyl carnitine transmembrane transport, ATP transport, amino acid transport, acyl carnitine transport, 132 175 212 188 136 208 169 111 176 ENSG00000162244 chr3 51993522 51995942 - RPL29 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6159 GO:0022625, GO:0022625, GO:0016020, GO:0005829, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, GO:0045296, GO:0008201, GO:0003735, GO:0003735, GO:0003723, cadherin binding, heparin binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0007566, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, embryo implantation, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 563 390 703 1273 562 1215 755 587 951 ENSG00000162267 chr3 52794768 52809009 + ITIH3 protein_coding This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]. 3699 GO:0070062, GO:0031089, GO:0005576, GO:0005576, extracellular exosome, platelet dense granule lumen, extracellular region, extracellular region, GO:0004867, GO:0004866, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0030212, GO:0010951, GO:0002576, hyaluronan metabolic process, negative regulation of endopeptidase activity, platelet degranulation, 2 4 8 11 16 13 8 9 4 ENSG00000162298 chr11 65121780 65134533 - SYVN1 protein_coding This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]. 84447 GO:0044322, GO:0044322, GO:0036513, GO:0030176, GO:0016020, GO:0005790, GO:0005789, GO:0005783, GO:0005783, GO:0005737, GO:0005654, GO:0000839, GO:0000839, GO:0000836, endoplasmic reticulum quality control compartment, endoplasmic reticulum quality control compartment, Derlin-1 retrotranslocation complex, integral component of endoplasmic reticulum membrane, membrane, smooth endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, nucleoplasm, Hrd1p ubiquitin ligase ERAD-L complex, Hrd1p ubiquitin ligase ERAD-L complex, Hrd1p ubiquitin ligase complex, GO:1990381, GO:0061630, GO:0061630, GO:0061630, GO:0061630, GO:0061630, GO:0051117, GO:0051087, GO:0051082, GO:0046872, GO:0005515, ubiquitin-specific protease binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ATPase binding, chaperone binding, unfolded protein binding, metal ion binding, protein binding, GO:1904380, GO:1902236, GO:1902236, GO:0070936, GO:0050821, GO:0036503, GO:0036503, GO:0036498, GO:0030970, GO:0030433, GO:0030433, GO:0030433, GO:0016567, GO:0016567, GO:0006511, GO:0006511, GO:0006511, GO:0002327, endoplasmic reticulum mannose trimming, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, protein K48-linked ubiquitination, protein stabilization, ERAD pathway, ERAD pathway, IRE1-mediated unfolded protein response, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, immature B cell differentiation, 435 445 516 285 399 301 304 318 353 ENSG00000162300 chr11 65084210 65088400 + ZFPL1 protein_coding 7542 GO:0016021, GO:0005794, GO:0005794, GO:0005634, integral component of membrane, Golgi apparatus, Golgi apparatus, nucleus, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:0016192, GO:0006355, vesicle-mediated transport, regulation of transcription, DNA-templated, 294 367 450 238 379 305 265 274 278 ENSG00000162302 chr11 64359148 64372215 + RPS6KA4 protein_coding This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 8986 GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004711, GO:0004674, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, ribosomal protein S6 kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0070498, GO:0051092, GO:0045944, GO:0043988, GO:0043987, GO:0035556, GO:0035066, GO:0033129, GO:0032793, GO:0018105, GO:0016572, GO:0016572, GO:0006954, GO:0006468, GO:0006355, GO:0006355, GO:0001818, interleukin-1-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription by RNA polymerase II, histone H3-S28 phosphorylation, histone H3-S10 phosphorylation, intracellular signal transduction, positive regulation of histone acetylation, positive regulation of histone phosphorylation, positive regulation of CREB transcription factor activity, peptidyl-serine phosphorylation, histone phosphorylation, histone phosphorylation, inflammatory response, protein phosphorylation, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of cytokine production, 70 41 108 230 154 233 243 98 219 ENSG00000162337 chr11 68312609 68449275 + LRP5 protein_coding This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 4041 GO:1990909, GO:1990851, GO:0043235, GO:0016021, GO:0005886, GO:0005886, GO:0005783, Wnt signalosome, Wnt-Frizzled-LRP5/6 complex, receptor complex, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:1904928, GO:0071936, GO:0042813, GO:0042813, GO:0019534, GO:0017147, GO:0017147, GO:0017147, GO:0015026, GO:0005515, coreceptor activity involved in canonical Wnt signaling pathway, coreceptor activity involved in Wnt signaling pathway, Wnt-activated receptor activity, Wnt-activated receptor activity, toxin transmembrane transporter activity, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, coreceptor activity, protein binding, GO:1902262, GO:1901998, GO:0110135, GO:0071901, GO:0061304, GO:0061304, GO:0061178, GO:0060764, GO:0060612, GO:0060612, GO:0060444, GO:0060349, GO:0060349, GO:0060070, GO:0060070, GO:0060070, GO:0060042, GO:0060033, GO:0051091, GO:0048539, GO:0048539, GO:0046849, GO:0045944, GO:0045944, GO:0045893, GO:0045840, GO:0045669, GO:0045668, GO:0045600, GO:0043434, GO:0042981, GO:0042733, GO:0042632, GO:0042632, GO:0042074, GO:0035426, GO:0035019, GO:0033690, GO:0009952, GO:0009314, GO:0008284, GO:0008217, GO:0008203, GO:0006897, GO:0006007, GO:0002076, GO:0002053, GO:0001702, apoptotic process involved in blood vessel morphogenesis, toxin transport, Norrin signaling pathway, negative regulation of protein serine/threonine kinase activity, retinal blood vessel morphogenesis, retinal blood vessel morphogenesis, regulation of insulin secretion involved in cellular response to glucose stimulus, cell-cell signaling involved in mammary gland development, adipose tissue development, adipose tissue development, branching involved in mammary gland duct morphogenesis, bone morphogenesis, bone morphogenesis, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, retina morphogenesis in camera-type eye, anatomical structure regression, positive regulation of DNA-binding transcription factor activity, bone marrow development, bone marrow development, bone remodeling, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of mitotic nuclear division, positive regulation of osteoblast differentiation, negative regulation of osteoblast differentiation, positive regulation of fat cell differentiation, response to peptide hormone, regulation of apoptotic process, embryonic digit morphogenesis, cholesterol homeostasis, cholesterol homeostasis, cell migration involved in gastrulation, extracellular matrix-cell signaling, somatic stem cell population maintenance, positive regulation of osteoblast proliferation, anterior/posterior pattern specification, response to radiation, positive regulation of cell population proliferation, regulation of blood pressure, cholesterol metabolic process, endocytosis, glucose catabolic process, osteoblast development, positive regulation of mesenchymal cell proliferation, gastrulation with mouth forming second, 3 0 2 4 3 9 2 1 0 ENSG00000162341 chr11 69048897 69162440 + TPCN2 protein_coding This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]. 219931 GO:0016021, GO:0010008, GO:0005765, GO:0005765, GO:0005764, integral component of membrane, endosome membrane, lysosomal membrane, lysosomal membrane, lysosome, GO:0072345, GO:0042802, GO:0019901, GO:0005515, GO:0005245, NAADP-sensitive calcium-release channel activity, identical protein binding, protein kinase binding, protein binding, voltage-gated calcium channel activity, GO:0051209, GO:0034765, GO:0034220, GO:0019722, GO:0019065, GO:0010506, GO:0007040, GO:0006939, GO:0006874, release of sequestered calcium ion into cytosol, regulation of ion transmembrane transport, ion transmembrane transport, calcium-mediated signaling, receptor-mediated endocytosis of virus by host cell, regulation of autophagy, lysosome organization, smooth muscle contraction, cellular calcium ion homeostasis, 260 541 626 215 497 350 219 415 355 ENSG00000162344 chr11 69698232 69704642 - FGF19 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. [provided by RefSeq, Jul 2008]. 9965 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005104, GO:0005104, growth factor activity, protein binding, fibroblast growth factor receptor binding, fibroblast growth factor receptor binding, GO:0070858, GO:0070374, GO:0051897, GO:0046330, GO:0046326, GO:0045471, GO:0030334, GO:0030154, GO:0015721, GO:0014070, GO:0010629, GO:0010628, GO:0009887, GO:0008543, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0007399, GO:0001934, GO:0001934, GO:0000165, negative regulation of bile acid biosynthetic process, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, positive regulation of JNK cascade, positive regulation of glucose import, response to ethanol, regulation of cell migration, cell differentiation, bile acid and bile salt transport, response to organic cyclic compound, negative regulation of gene expression, positive regulation of gene expression, animal organ morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, nervous system development, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000162365 chr1 47137435 47149741 + CYP4A22 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 284541 GO:0043231, GO:0005789, GO:0005615, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, extracellular space, GO:0103002, GO:0102116, GO:0102033, GO:0052869, GO:0020037, GO:0018685, GO:0008391, GO:0005506, 16-hydroxypalmitate dehydrogenase activity, laurate hydroxylase activity, long-chain fatty acid omega-hydroxylase activity, arachidonic acid omega-hydroxylase activity, heme binding, alkane 1-monooxygenase activity, arachidonic acid monooxygenase activity, iron ion binding, GO:0097267, GO:0055114, GO:0048252, GO:0046456, GO:0043651, GO:0019369, GO:0002933, GO:0001822, omega-hydroxylase P450 pathway, oxidation-reduction process, lauric acid metabolic process, icosanoid biosynthetic process, linoleic acid metabolic process, arachidonic acid metabolic process, lipid hydroxylation, kidney development, 0 0 0 0 0 0 0 0 0 ENSG00000162366 chr1 47183593 47191044 - PDZK1IP1 protein_coding 10158 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0005515, protein binding, 1 0 0 4 0 0 1 0 0 ENSG00000162367 chr1 47216290 47232220 - TAL1 protein_coding 6886 GO:0033193, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, GO:0000118, Lsd1/2 complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, histone deacetylase complex, GO:0070888, GO:0046983, GO:0042826, GO:0019899, GO:0005515, GO:0003700, GO:0003682, GO:0001085, GO:0000981, GO:0000981, GO:0000978, GO:0000976, E-box binding, protein dimerization activity, histone deacetylase binding, enzyme binding, protein binding, DNA-binding transcription factor activity, chromatin binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000036, GO:1902036, GO:0060375, GO:0060218, GO:0060217, GO:0060216, GO:0060018, GO:0051781, GO:0045944, GO:0045931, GO:0045893, GO:0045799, GO:0045648, GO:0045648, GO:0045165, GO:0043249, GO:0042127, GO:0035855, GO:0035162, GO:0031334, GO:0030221, GO:0030220, GO:0030219, GO:0030218, GO:0030218, GO:0030097, GO:0021527, GO:0007626, GO:0006357, GO:0006357, GO:0001525, GO:0000122, regulation of stem cell population maintenance, regulation of hematopoietic stem cell differentiation, regulation of mast cell differentiation, hematopoietic stem cell differentiation, hemangioblast cell differentiation, definitive hemopoiesis, astrocyte fate commitment, positive regulation of cell division, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, positive regulation of chromatin assembly or disassembly, positive regulation of erythrocyte differentiation, positive regulation of erythrocyte differentiation, cell fate commitment, erythrocyte maturation, regulation of cell population proliferation, megakaryocyte development, embryonic hemopoiesis, positive regulation of protein-containing complex assembly, basophil differentiation, platelet formation, megakaryocyte differentiation, erythrocyte differentiation, erythrocyte differentiation, hemopoiesis, spinal cord association neuron differentiation, locomotory behavior, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, angiogenesis, negative regulation of transcription by RNA polymerase II, 3 4 1 1 1 2 0 6 0 ENSG00000162368 chr1 47333797 47378839 + CMPK1 protein_coding This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]. 51727 GO:0070062, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0033862, GO:0005524, GO:0004849, GO:0004550, GO:0004127, UMP kinase activity, ATP binding, uridine kinase activity, nucleoside diphosphate kinase activity, cytidylate kinase activity, GO:0046940, GO:0046705, GO:0015949, GO:0009220, GO:0009142, GO:0006225, GO:0006222, GO:0006207, GO:0006165, GO:0006163, nucleoside monophosphate phosphorylation, CDP biosynthetic process, nucleobase-containing small molecule interconversion, pyrimidine ribonucleotide biosynthetic process, nucleoside triphosphate biosynthetic process, UDP biosynthetic process, UMP biosynthetic process, 'de novo' pyrimidine nucleobase biosynthetic process, nucleoside diphosphate phosphorylation, purine nucleotide metabolic process, 240 250 365 389 230 522 367 199 351 ENSG00000162373 chr1 48727523 48776969 - BEND5 protein_coding 79656 GO:0005794, Golgi apparatus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0045892, GO:0045892, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, 0 1 0 0 4 18 0 1 0 ENSG00000162374 chr1 50048014 50203786 + ELAVL4 protein_coding 1996 GO:1990904, GO:0043204, GO:0030426, GO:0030425, GO:0030424, GO:0005737, ribonucleoprotein complex, perikaryon, growth cone, dendrite, axon, cytoplasm, GO:0097158, GO:0035925, GO:0008143, GO:0003730, pre-mRNA intronic pyrimidine-rich binding, mRNA 3'-UTR AU-rich region binding, poly(A) binding, mRNA 3'-UTR binding, GO:1905870, GO:0070935, GO:0008380, GO:0006397, GO:0006396, positive regulation of 3'-UTR-mediated mRNA stabilization, 3'-UTR-mediated mRNA stabilization, RNA splicing, mRNA processing, RNA processing, 0 0 0 1 0 0 0 0 0 ENSG00000162377 chr1 52684451 52698366 - COA7 protein_coding 65260 GO:0005758, GO:0005758, GO:0005739, GO:0005654, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrion, nucleoplasm, GO:0005515, protein binding, 7 3 3 9 13 12 7 8 14 ENSG00000162378 chr1 52726467 52827342 + ZYG11B protein_coding 79699 GO:0031462, GO:0031462, Cul2-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, GO:0005515, protein binding, GO:0032436, GO:0006515, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein quality control for misfolded or incompletely synthesized proteins, 569 684 603 378 690 631 382 514 413 ENSG00000162383 chr1 53087179 53142632 - SLC1A7 protein_coding 6512 GO:0098793, GO:0016021, GO:0005886, presynapse, integral component of membrane, plasma membrane, GO:0015293, GO:0005313, symporter activity, L-glutamate transmembrane transporter activity, GO:0098810, GO:0015813, GO:0014047, GO:0006835, GO:0006811, GO:0001504, neurotransmitter reuptake, L-glutamate transmembrane transport, glutamate secretion, dicarboxylic acid transport, ion transport, neurotransmitter uptake, 0 1 3 0 1 3 0 0 2 ENSG00000162384 chr1 53214099 53220617 - C1orf123 protein_coding 54987 GO:0008270, GO:0008270, GO:0005515, zinc ion binding, zinc ion binding, protein binding, GO:0008150, biological_process, 75 76 60 84 67 106 69 68 60 ENSG00000162385 chr1 53226892 53238610 - MAGOH protein_coding Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008]. 4116 GO:0071013, GO:0071013, GO:0035145, GO:0035145, GO:0016607, GO:0005737, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, exon-exon junction complex, exon-exon junction complex, nuclear speck, cytoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0031124, GO:0008380, GO:0006417, GO:0006406, GO:0006405, GO:0000398, GO:0000398, GO:0000381, GO:0000184, GO:0000184, GO:0000184, mRNA 3'-end processing, RNA splicing, regulation of translation, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 535 376 487 259 327 342 252 296 380 ENSG00000162390 chr1 54542257 54639192 + ACOT11 protein_coding This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]. 26027 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005759, extracellular exosome, cytosol, cytosol, cytosol, mitochondrial matrix, GO:0102991, GO:0052689, GO:0047617, GO:0047617, GO:0036042, GO:0016290, GO:0008289, myristoyl-CoA hydrolase activity, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, acyl-CoA hydrolase activity, long-chain fatty acyl-CoA binding, palmitoyl-CoA hydrolase activity, lipid binding, GO:0120163, GO:0035556, GO:0009409, GO:0009266, GO:0006637, GO:0006637, GO:0006631, GO:0006631, GO:0006631, negative regulation of cold-induced thermogenesis, intracellular signal transduction, response to cold, response to temperature stimulus, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, fatty acid metabolic process, fatty acid metabolic process, 9 19 20 0 0 0 2 3 1 ENSG00000162391 chr1 54609182 54623556 - FAM151A protein_coding 338094 GO:0070062, GO:0016021, GO:0016020, extracellular exosome, integral component of membrane, membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 2 2 5 2 0 0 0 1 0 ENSG00000162396 chr1 54756898 54764514 - PARS2 protein_coding This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]. 25973 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005524, GO:0004827, ATP binding, proline-tRNA ligase activity, GO:0006433, prolyl-tRNA aminoacylation, 0 0 1 0 2 0 4 3 1 ENSG00000162398 chr1 54806063 54842252 + LEXM protein_coding 163747 0 2 1 0 2 5 0 4 0 ENSG00000162399 chr1 54998193 55011784 + BSND protein_coding This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]. 7809 GO:0032991, GO:0016323, GO:0016323, GO:0005887, GO:0005887, GO:0005886, GO:0005737, protein-containing complex, basolateral plasma membrane, basolateral plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0017081, GO:0005515, GO:0005254, chloride channel regulator activity, protein binding, chloride channel activity, GO:1902476, GO:0034220, GO:0006821, chloride transmembrane transport, ion transmembrane transport, chloride transport, 0 0 0 0 0 2 0 0 0 ENSG00000162402 chr1 55066359 55215113 - USP24 protein_coding Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]. 23358 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0005515, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0016579, GO:0016579, GO:0016032, GO:0006511, protein deubiquitination, protein deubiquitination, viral process, ubiquitin-dependent protein catabolic process, 841 933 1263 688 658 869 674 513 658 ENSG00000162407 chr1 56494747 56645301 - PLPP3 protein_coding The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010]. 8613 GO:0070971, GO:0045121, GO:0033116, GO:0016323, GO:0016021, GO:0016020, GO:0005912, GO:0005887, GO:0005886, GO:0005802, GO:0005794, GO:0005789, GO:0000139, endoplasmic reticulum exit site, membrane raft, endoplasmic reticulum-Golgi intermediate compartment membrane, basolateral plasma membrane, integral component of membrane, membrane, adherens junction, integral component of plasma membrane, plasma membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum membrane, Golgi membrane, GO:0106235, GO:0042577, GO:0042392, GO:0042392, GO:0008195, GO:0008195, GO:0005515, GO:0005178, ceramide-1-phosphate phosphatase activity, lipid phosphatase activity, sphingosine-1-phosphate phosphatase activity, sphingosine-1-phosphate phosphatase activity, phosphatidate phosphatase activity, phosphatidate phosphatase activity, protein binding, integrin binding, GO:1902068, GO:0060070, GO:0060020, GO:0051091, GO:0050821, GO:0050731, GO:0046839, GO:0046839, GO:0044330, GO:0044329, GO:0044328, GO:0034109, GO:0033631, GO:0030148, GO:0030111, GO:0007229, GO:0007165, GO:0006890, GO:0006672, GO:0006670, GO:0006644, GO:0006644, GO:0006644, GO:0001933, GO:0001702, GO:0001568, regulation of sphingolipid mediated signaling pathway, canonical Wnt signaling pathway, Bergmann glial cell differentiation, positive regulation of DNA-binding transcription factor activity, protein stabilization, positive regulation of peptidyl-tyrosine phosphorylation, phospholipid dephosphorylation, phospholipid dephosphorylation, canonical Wnt signaling pathway involved in positive regulation of wound healing, canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion, canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration, homotypic cell-cell adhesion, cell-cell adhesion mediated by integrin, sphingolipid biosynthetic process, regulation of Wnt signaling pathway, integrin-mediated signaling pathway, signal transduction, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, ceramide metabolic process, sphingosine metabolic process, phospholipid metabolic process, phospholipid metabolic process, phospholipid metabolic process, negative regulation of protein phosphorylation, gastrulation with mouth forming second, blood vessel development, 23 35 65 16 24 23 17 19 17 ENSG00000162408 chr1 6521347 6554535 - NOL9 protein_coding 79707 GO:0045111, GO:0016020, GO:0005730, GO:0005730, GO:0005654, GO:0005634, intermediate filament cytoskeleton, membrane, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0051731, GO:0051731, GO:0005524, GO:0005515, GO:0003723, polynucleotide 5'-hydroxyl-kinase activity, polynucleotide 5'-hydroxyl-kinase activity, ATP binding, protein binding, RNA binding, GO:0016310, GO:0006396, GO:0006364, GO:0000460, GO:0000448, phosphorylation, RNA processing, rRNA processing, maturation of 5.8S rRNA, cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 22 38 54 83 47 72 89 43 47 ENSG00000162409 chr1 56645322 56715335 + PRKAA2 protein_coding The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]. 5563 GO:0043025, GO:0030425, GO:0030424, GO:0016607, GO:0010494, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0005634, neuronal cell body, dendrite, axon, nuclear speck, cytoplasmic stress granule, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0050405, GO:0047322, GO:0046872, GO:0035174, GO:0005524, GO:0005515, GO:0004712, GO:0004679, GO:0004679, GO:0004674, GO:0004674, GO:0004672, GO:0003682, protein threonine kinase activity, protein serine kinase activity, [acetyl-CoA carboxylase] kinase activity, [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity, metal ion binding, histone serine kinase activity, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, AMP-activated protein kinase activity, AMP-activated protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, chromatin binding, GO:2000758, GO:1904428, GO:1903829, GO:1901796, GO:0097009, GO:0071380, GO:0071333, GO:0071277, GO:0070507, GO:0062028, GO:0055089, GO:0048511, GO:0045821, GO:0043066, GO:0042752, GO:0042593, GO:0042304, GO:0042149, GO:0035690, GO:0035556, GO:0035404, GO:0034599, GO:0032007, GO:0031669, GO:0016241, GO:0016241, GO:0016239, GO:0016236, GO:0016055, GO:0014850, GO:0010629, GO:0010508, GO:0008610, GO:0007165, GO:0007050, GO:0006853, GO:0006695, GO:0006633, GO:0006468, positive regulation of peptidyl-lysine acetylation, negative regulation of tubulin deacetylation, positive regulation of cellular protein localization, regulation of signal transduction by p53 class mediator, energy homeostasis, cellular response to prostaglandin E stimulus, cellular response to glucose stimulus, cellular response to calcium ion, regulation of microtubule cytoskeleton organization, regulation of stress granule assembly, fatty acid homeostasis, rhythmic process, positive regulation of glycolytic process, negative regulation of apoptotic process, regulation of circadian rhythm, glucose homeostasis, regulation of fatty acid biosynthetic process, cellular response to glucose starvation, cellular response to drug, intracellular signal transduction, histone-serine phosphorylation, cellular response to oxidative stress, negative regulation of TOR signaling, cellular response to nutrient levels, regulation of macroautophagy, regulation of macroautophagy, positive regulation of macroautophagy, macroautophagy, Wnt signaling pathway, response to muscle activity, negative regulation of gene expression, positive regulation of autophagy, lipid biosynthetic process, signal transduction, cell cycle arrest, carnitine shuttle, cholesterol biosynthetic process, fatty acid biosynthetic process, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000162413 chr1 6590724 6614607 - KLHL21 protein_coding 9903 GO:0031463, GO:0005829, GO:0005827, Cul3-RING ubiquitin ligase complex, cytosol, polar microtubule, GO:0097602, GO:0005515, GO:0004842, cullin family protein binding, protein binding, ubiquitin-protein transferase activity, GO:0051301, GO:0043687, GO:0035853, GO:0032465, GO:0016567, GO:0016567, GO:0007049, cell division, post-translational protein modification, chromosome passenger complex localization to spindle midzone, regulation of cytokinesis, protein ubiquitination, protein ubiquitination, cell cycle, 1151 1676 2333 1660 1941 2499 3461 2711 3016 ENSG00000162415 chr1 45016399 45306209 - ZSWIM5 protein_coding 57643 GO:0031462, GO:0005615, Cul2-RING ubiquitin ligase complex, extracellular space, GO:0008270, zinc ion binding, GO:1902667, regulation of axon guidance, 1 1 1 15 1 18 17 2 5 ENSG00000162419 chr1 28668732 28719353 + GMEB1 protein_coding This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene's role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2016]. 10691 GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0051008, GO:0046872, GO:0042802, GO:0001228, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, Hsp27 protein binding, metal ion binding, identical protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 249 242 323 162 153 135 159 163 108 ENSG00000162426 chr1 8317826 8344167 + SLC45A1 protein_coding This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]. 50651 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0008506, sucrose:proton symporter activity, GO:1904659, GO:0015770, glucose transmembrane transport, sucrose transport, 0 3 2 0 0 5 0 1 1 ENSG00000162430 chr1 25800176 25818224 + SELENON protein_coding This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]. 57190 GO:0005789, GO:0005789, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0016491, GO:0005515, GO:0005509, oxidoreductase activity, protein binding, calcium ion binding, GO:1902884, GO:0060314, GO:0055114, GO:0055074, GO:0055074, GO:0048741, positive regulation of response to oxidative stress, regulation of ryanodine-sensitive calcium-release channel activity, oxidation-reduction process, calcium ion homeostasis, calcium ion homeostasis, skeletal muscle fiber development, 73 70 106 92 59 85 67 49 58 ENSG00000162433 chr1 65147549 65232145 + AK4 protein_coding This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]. 205 GO:0005759, GO:0005759, GO:0005759, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, cytoplasm, GO:0050145, GO:0046899, GO:0046899, GO:0005525, GO:0005524, GO:0005515, GO:0004550, GO:0004550, GO:0004017, GO:0004017, nucleoside monophosphate kinase activity, nucleoside triphosphate adenylate kinase activity, nucleoside triphosphate adenylate kinase activity, GTP binding, ATP binding, protein binding, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, adenylate kinase activity, adenylate kinase activity, GO:2001169, GO:0071456, GO:0046940, GO:0046039, GO:0046034, GO:0046033, GO:0046033, GO:0042493, GO:0015949, GO:0009142, GO:0009142, GO:0007420, GO:0006172, GO:0006165, GO:0006165, GO:0006163, GO:0002082, GO:0001889, regulation of ATP biosynthetic process, cellular response to hypoxia, nucleoside monophosphate phosphorylation, GTP metabolic process, ATP metabolic process, AMP metabolic process, AMP metabolic process, response to drug, nucleobase-containing small molecule interconversion, nucleoside triphosphate biosynthetic process, nucleoside triphosphate biosynthetic process, brain development, ADP biosynthetic process, nucleoside diphosphate phosphorylation, nucleoside diphosphate phosphorylation, purine nucleotide metabolic process, regulation of oxidative phosphorylation, liver development, 3 0 1 0 2 0 3 0 0 ENSG00000162434 chr1 64833229 64966504 - JAK1 protein_coding This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]. 3716 GO:0016020, GO:0005925, GO:0005856, GO:0005829, GO:0005768, GO:0005737, GO:0005634, membrane, focal adhesion, cytoskeleton, cytosol, endosome, cytoplasm, nucleus, GO:0046872, GO:0031730, GO:0031625, GO:0019903, GO:0005524, GO:0005515, GO:0005131, GO:0005131, GO:0004715, GO:0004713, GO:0004713, metal ion binding, CCR5 chemokine receptor binding, ubiquitin protein ligase binding, protein phosphatase binding, ATP binding, protein binding, growth hormone receptor binding, growth hormone receptor binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:1903672, GO:0150105, GO:0070757, GO:0070106, GO:0070102, GO:0060337, GO:0060334, GO:0060333, GO:0046677, GO:0038114, GO:0038113, GO:0038111, GO:0038110, GO:0038110, GO:0035723, GO:0035722, GO:0035556, GO:0034112, GO:0019221, GO:0019221, GO:0018108, GO:0006468, GO:0000165, positive regulation of sprouting angiogenesis, protein localization to cell-cell junction, interleukin-35-mediated signaling pathway, interleukin-27-mediated signaling pathway, interleukin-6-mediated signaling pathway, type I interferon signaling pathway, regulation of interferon-gamma-mediated signaling pathway, interferon-gamma-mediated signaling pathway, response to antibiotic, interleukin-21-mediated signaling pathway, interleukin-9-mediated signaling pathway, interleukin-7-mediated signaling pathway, interleukin-2-mediated signaling pathway, interleukin-2-mediated signaling pathway, interleukin-15-mediated signaling pathway, interleukin-12-mediated signaling pathway, intracellular signal transduction, positive regulation of homotypic cell-cell adhesion, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, protein phosphorylation, MAPK cascade, 8563 8610 10813 3506 5182 5022 3972 4424 4229 ENSG00000162437 chr1 64745095 64833232 + RAVER2 protein_coding 55225 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0003723, GO:0003676, RNA binding, nucleic acid binding, GO:0000398, mRNA splicing, via spliceosome, 31 38 50 34 42 85 42 42 51 ENSG00000162438 chr1 15438439 15449242 + CTRC protein_coding This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 11330 GO:0005576, extracellular region, GO:0008233, GO:0008233, GO:0005515, GO:0004252, peptidase activity, peptidase activity, protein binding, serine-type endopeptidase activity, GO:0009235, GO:0006874, GO:0006508, GO:0006508, cobalamin metabolic process, cellular calcium ion homeostasis, proteolysis, proteolysis, 16 17 26 38 40 27 46 30 22 ENSG00000162441 chr1 9922113 9943407 - LZIC protein_coding 84328 GO:0008013, GO:0005515, beta-catenin binding, protein binding, GO:0010212, response to ionizing radiation, 55 117 101 39 74 78 35 70 51 ENSG00000162444 chr1 9997206 10016020 + RBP7 protein_coding The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs. [provided by RefSeq, Aug 2016]. 116362 GO:0005737, cytoplasm, GO:0019841, GO:0016918, GO:0005515, retinol binding, retinal binding, protein binding, 293 179 288 99 205 133 139 177 132 ENSG00000162456 chr1 46545644 46551527 - KNCN protein_coding 148930 GO:0060091, GO:0043025, GO:0036064, GO:0032437, GO:0016324, GO:0016021, kinocilium, neuronal cell body, ciliary basal body, cuticular plate, apical plasma membrane, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000162458 chr1 15756607 15786594 + FBLIM1 protein_coding This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 54751 GO:0071944, GO:0030054, GO:0005925, GO:0005925, GO:0005925, GO:0005829, GO:0005737, GO:0001725, GO:0001725, GO:0001650, cell periphery, cell junction, focal adhesion, focal adhesion, focal adhesion, cytosol, cytoplasm, stress fiber, stress fiber, fibrillar center, GO:0046872, GO:0031005, GO:0031005, GO:0005515, metal ion binding, filamin binding, filamin binding, protein binding, GO:0098609, GO:0098609, GO:0034329, GO:0033623, GO:0008360, cell-cell adhesion, cell-cell adhesion, cell junction assembly, regulation of integrin activation, regulation of cell shape, 1 0 0 0 1 0 0 4 0 ENSG00000162460 chr1 15742422 15747982 + TMEM82 protein_coding 388595 GO:0016021, integral component of membrane, 2 0 0 0 0 0 0 0 0 ENSG00000162461 chr1 15736405 15741396 + SLC25A34 protein_coding SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]. 284723 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0001835, blastocyst hatching, 28 35 33 63 46 60 32 45 18 ENSG00000162482 chr1 19282558 19289250 - AKR7A3 protein_coding Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004]. 22977 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0042802, GO:0009055, GO:0005515, GO:0004033, identical protein binding, electron transfer activity, protein binding, aldo-keto reductase (NADP) activity, GO:0046223, GO:0022900, GO:0006805, GO:0006081, aflatoxin catabolic process, electron transport chain, xenobiotic metabolic process, cellular aldehyde metabolic process, 0 1 1 1 0 0 0 4 2 ENSG00000162490 chr1 11691729 11725857 + DRAXIN protein_coding 374946 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0005515, protein binding, GO:0090090, GO:0090090, GO:0043524, GO:0030900, GO:0030900, GO:0030517, GO:0021528, GO:0021528, GO:0021516, GO:0021516, GO:0016055, GO:0007411, GO:0007411, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of neuron apoptotic process, forebrain development, forebrain development, negative regulation of axon extension, commissural neuron differentiation in spinal cord, commissural neuron differentiation in spinal cord, dorsal spinal cord development, dorsal spinal cord development, Wnt signaling pathway, axon guidance, axon guidance, 7 6 5 4 1 27 3 4 8 ENSG00000162493 chr1 13583465 13617957 + PDPN protein_coding This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 10630 GO:0097197, GO:0071437, GO:0071437, GO:0061851, GO:0045121, GO:0042995, GO:0032587, GO:0031528, GO:0031527, GO:0031410, GO:0031258, GO:0030175, GO:0030175, GO:0030054, GO:0030027, GO:0030027, GO:0016324, GO:0016324, GO:0016323, GO:0016323, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0001726, tetraspanin-enriched microdomain, invadopodium, invadopodium, leading edge of lamellipodium, membrane raft, cell projection, ruffle membrane, microvillus membrane, filopodium membrane, cytoplasmic vesicle, lamellipodium membrane, filopodium, filopodium, cell junction, lamellipodium, lamellipodium, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, ruffle, GO:0051087, GO:0051087, GO:0019956, GO:0019956, GO:0015250, GO:0015171, GO:0008517, GO:0005515, GO:0005372, GO:0005102, GO:0005102, chaperone binding, chaperone binding, chemokine binding, chemokine binding, water channel activity, amino acid transmembrane transporter activity, folic acid transmembrane transporter activity, protein binding, water transmembrane transporter activity, signaling receptor binding, signaling receptor binding, GO:2000392, GO:2000392, GO:1905863, GO:1905863, GO:1904328, GO:1904328, GO:1901731, GO:1901731, GO:1901731, GO:1900024, GO:1900024, GO:0098609, GO:0090091, GO:0090091, GO:0070252, GO:0070252, GO:0060838, GO:0055093, GO:0051272, GO:0048535, GO:0044319, GO:0043066, GO:0035239, GO:0030335, GO:0030335, GO:0030324, GO:0030324, GO:0030168, GO:0015884, GO:0010718, GO:0010718, GO:0008360, GO:0008285, GO:0007266, GO:0007266, GO:0006865, GO:0006833, GO:0003333, GO:0001946, GO:0000902, GO:0000902, regulation of lamellipodium morphogenesis, regulation of lamellipodium morphogenesis, invadopodium organization, invadopodium organization, regulation of myofibroblast contraction, regulation of myofibroblast contraction, positive regulation of platelet aggregation, positive regulation of platelet aggregation, positive regulation of platelet aggregation, regulation of substrate adhesion-dependent cell spreading, regulation of substrate adhesion-dependent cell spreading, cell-cell adhesion, positive regulation of extracellular matrix disassembly, positive regulation of extracellular matrix disassembly, actin-mediated cell contraction, actin-mediated cell contraction, lymphatic endothelial cell fate commitment, response to hyperoxia, positive regulation of cellular component movement, lymph node development, wound healing, spreading of cells, negative regulation of apoptotic process, tube morphogenesis, positive regulation of cell migration, positive regulation of cell migration, lung development, lung development, platelet activation, folic acid transport, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial to mesenchymal transition, regulation of cell shape, negative regulation of cell population proliferation, Rho protein signal transduction, Rho protein signal transduction, amino acid transport, water transport, amino acid transmembrane transport, lymphangiogenesis, cell morphogenesis, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000162494 chr1 13474977 13514048 - LRRC38 protein_coding 126755 GO:0008076, GO:0008076, GO:0005887, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, GO:0099104, GO:0099104, GO:0044325, GO:0044325, GO:0005249, potassium channel activator activity, potassium channel activator activity, ion channel binding, ion channel binding, voltage-gated potassium channel activity, GO:1903818, GO:0071805, positive regulation of voltage-gated potassium channel activity, potassium ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000162496 chr1 12567910 12617731 - DHRS3 protein_coding Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009]. 9249 GO:0042622, GO:0016021, GO:0005811, GO:0005789, photoreceptor outer segment membrane, integral component of membrane, lipid droplet, endoplasmic reticulum membrane, GO:0052650, GO:0016616, GO:0009055, GO:0004745, GO:0000166, NADP-retinol dehydrogenase activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, electron transfer activity, retinol dehydrogenase activity, nucleotide binding, GO:0060411, GO:0060349, GO:0060021, GO:0048387, GO:0048385, GO:0042572, GO:0030278, GO:0022900, GO:0007601, GO:0003151, GO:0001523, GO:0001523, cardiac septum morphogenesis, bone morphogenesis, roof of mouth development, negative regulation of retinoic acid receptor signaling pathway, regulation of retinoic acid receptor signaling pathway, retinol metabolic process, regulation of ossification, electron transport chain, visual perception, outflow tract morphogenesis, retinoid metabolic process, retinoid metabolic process, 31 7 60 41 30 75 44 12 29 ENSG00000162510 chr1 30711277 30723587 - MATN1 protein_coding This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]. 4146 GO:0062023, GO:0031012, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, extracellular region, GO:0005515, GO:0005509, GO:0005201, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0065003, GO:0030500, GO:0030198, GO:0003429, protein-containing complex assembly, regulation of bone mineralization, extracellular matrix organization, growth plate cartilage chondrocyte morphogenesis, 14 19 11 44 19 44 26 18 15 ENSG00000162511 chr1 30732469 30757820 - LAPTM5 protein_coding This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]. 7805 GO:0031410, GO:0030133, GO:0005887, GO:0005765, GO:0005764, cytoplasmic vesicle, transport vesicle, integral component of plasma membrane, lysosomal membrane, lysosome, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:2000646, GO:2000060, GO:1990830, GO:1904093, GO:0097214, GO:0050869, GO:0050868, GO:0050860, GO:0032703, GO:0032689, GO:0012502, GO:0006622, GO:0002357, positive regulation of receptor catabolic process, positive regulation of ubiquitin-dependent protein catabolic process, cellular response to leukemia inhibitory factor, negative regulation of autophagic cell death, positive regulation of lysosomal membrane permeability, negative regulation of B cell activation, negative regulation of T cell activation, negative regulation of T cell receptor signaling pathway, negative regulation of interleukin-2 production, negative regulation of interferon-gamma production, induction of programmed cell death, protein targeting to lysosome, defense response to tumor cell, 37440 35525 45983 12952 20233 17662 16891 18959 16486 ENSG00000162512 chr1 30869467 30908761 - SDC3 protein_coding The protein encoded by this gene belongs to the syndecan proteoglycan family. It may play a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. Allelic variants of this gene have been associated with obesity. [provided by RefSeq, Oct 2009]. 9672 GO:0062023, GO:0044393, GO:0043202, GO:0016021, GO:0016020, GO:0009986, GO:0005886, GO:0005886, GO:0005796, collagen-containing extracellular matrix, microspike, lysosomal lumen, integral component of membrane, membrane, cell surface, plasma membrane, plasma membrane, Golgi lumen, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0050900, GO:0016477, GO:0006027, GO:0006024, GO:0001523, leukocyte migration, cell migration, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, retinoid metabolic process, 0 1 1 0 9 6 0 0 0 ENSG00000162517 chr1 31629862 31644896 - PEF1 protein_coding This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]. 553115 GO:0070062, GO:0031463, GO:0030127, GO:0005783, GO:0005737, GO:0000139, extracellular exosome, Cul3-RING ubiquitin ligase complex, COPII vesicle coat, endoplasmic reticulum, cytoplasm, Golgi membrane, GO:1990756, GO:0048306, GO:0046983, GO:0046982, GO:0042802, GO:0005515, GO:0005509, GO:0003723, ubiquitin ligase-substrate adaptor activity, calcium-dependent protein binding, protein dimerization activity, protein heterodimerization activity, identical protein binding, protein binding, calcium ion binding, RNA binding, GO:1902527, GO:0051592, GO:0048208, GO:0048208, GO:0016567, GO:0014032, GO:0014029, GO:0006888, positive regulation of protein monoubiquitination, response to calcium ion, COPII vesicle coating, COPII vesicle coating, protein ubiquitination, neural crest cell development, neural crest formation, endoplasmic reticulum to Golgi vesicle-mediated transport, 700 664 866 275 406 347 286 307 304 ENSG00000162520 chr1 32680360 32703596 - SYNC protein_coding This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. 81493 GO:0048471, GO:0042383, GO:0031594, GO:0030018, GO:0005882, GO:0005829, perinuclear region of cytoplasm, sarcolemma, neuromuscular junction, Z disc, intermediate filament, cytosol, GO:0005515, protein binding, GO:0045103, intermediate filament-based process, 11 21 20 18 16 24 30 21 20 ENSG00000162521 chr1 32651142 32686211 + RBBP4 protein_coding This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 5928 GO:0035098, GO:0033186, GO:0032991, GO:0032991, GO:0016589, GO:0016581, GO:0016581, GO:0016580, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, ESC/E(Z) complex, CAF-1 complex, protein-containing complex, protein-containing complex, NURF complex, NuRD complex, NuRD complex, Sin3 complex, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0042826, GO:0042393, GO:0031492, GO:0008094, GO:0005515, GO:0000978, histone deacetylase binding, histone binding, nucleosomal DNA binding, DNA-dependent ATPase activity, protein binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901796, GO:0070317, GO:0051726, GO:0045814, GO:0043044, GO:0034080, GO:0031497, GO:0008285, GO:0007049, GO:0006338, GO:0006336, GO:0006335, GO:0006260, regulation of signal transduction by p53 class mediator, negative regulation of G0 to G1 transition, regulation of cell cycle, negative regulation of gene expression, epigenetic, ATP-dependent chromatin remodeling, CENP-A containing nucleosome assembly, chromatin assembly, negative regulation of cell population proliferation, cell cycle, chromatin remodeling, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, DNA replication, 235 252 300 259 231 356 275 203 243 ENSG00000162522 chr1 32741885 32774970 + KIAA1522 protein_coding 57648 GO:0030154, cell differentiation, 3 0 10 1 7 1 5 2 0 ENSG00000162526 chr1 32351521 32364312 + TSSK3 protein_coding This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008]. 81629 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0030154, GO:0007283, GO:0007275, GO:0006468, GO:0006468, intracellular signal transduction, cell differentiation, spermatogenesis, multicellular organism development, protein phosphorylation, protein phosphorylation, 92 106 81 42 70 75 43 55 49 ENSG00000162542 chr1 19682213 19799945 - TMCO4 protein_coding 255104 GO:0016021, integral component of membrane, GO:0005515, protein binding, 15 11 26 69 12 41 26 11 26 ENSG00000162543 chr1 20186085 20196048 + UBXN10 protein_coding 127733 GO:0030992, GO:0005929, intraciliary transport particle B, cilium, GO:0005515, protein binding, GO:0060271, cilium assembly, 1 2 0 1 4 5 0 1 4 ENSG00000162545 chr1 20482391 20486220 - CAMK2N1 protein_coding 55450 GO:0043025, GO:0030425, GO:0014069, GO:0005575, neuronal cell body, dendrite, postsynaptic density, cellular_component, GO:0019901, GO:0019901, GO:0008427, GO:0008427, protein kinase binding, protein kinase binding, calcium-dependent protein kinase inhibitor activity, calcium-dependent protein kinase inhibitor activity, GO:1904030, GO:0070373, GO:0055074, GO:0045861, GO:0045786, GO:0035774, GO:0010628, GO:0008285, GO:0006469, GO:0006469, GO:0003084, negative regulation of cyclin-dependent protein kinase activity, negative regulation of ERK1 and ERK2 cascade, calcium ion homeostasis, negative regulation of proteolysis, negative regulation of cell cycle, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of gene expression, negative regulation of cell population proliferation, negative regulation of protein kinase activity, negative regulation of protein kinase activity, positive regulation of systemic arterial blood pressure, 6 2 8 14 8 11 24 4 5 ENSG00000162551 chr1 21509372 21578412 + ALPL protein_coding This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]. 249 GO:0070062, GO:0065010, GO:0031225, GO:0031012, GO:0016020, GO:0005886, GO:0005886, GO:0005576, extracellular exosome, extracellular membrane-bounded organelle, anchored component of membrane, extracellular matrix, membrane, plasma membrane, plasma membrane, extracellular region, GO:0046872, GO:0016462, GO:0005515, GO:0004035, metal ion binding, pyrophosphatase activity, protein binding, alkaline phosphatase activity, GO:0071529, GO:0071407, GO:0051384, GO:0046677, GO:0033280, GO:0032496, GO:0016311, GO:0003006, GO:0001958, GO:0001649, GO:0001501, cementum mineralization, cellular response to organic cyclic compound, response to glucocorticoid, response to antibiotic, response to vitamin D, response to lipopolysaccharide, dephosphorylation, developmental process involved in reproduction, endochondral ossification, osteoblast differentiation, skeletal system development, 10610 4757 8112 2841 2451 2759 4173 2336 2765 ENSG00000162552 chr1 22117305 22143969 - WNT4 protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]. 54361 GO:0070062, GO:0031012, GO:0030666, GO:0009986, GO:0005886, GO:0005796, GO:0005788, GO:0005737, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, extracellular matrix, endocytic vesicle membrane, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0048018, GO:0005125, GO:0005109, GO:0003714, receptor ligand activity, cytokine activity, frizzled binding, transcription corepressor activity, GO:2001234, GO:2000225, GO:2000180, GO:2000066, GO:2000019, GO:0072273, GO:0072174, GO:0072162, GO:0072034, GO:0072033, GO:0071560, GO:0061369, GO:0061205, GO:0061184, GO:0061180, GO:0061045, GO:0060748, GO:0060231, GO:0060129, GO:0060126, GO:0060070, GO:0060070, GO:0051894, GO:0051496, GO:0051145, GO:0048599, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045836, GO:0045669, GO:0045596, GO:0045165, GO:0043547, GO:0042445, GO:0040037, GO:0038030, GO:0033080, GO:0032967, GO:0032349, GO:0030501, GO:0030336, GO:0030325, GO:0030237, GO:0030182, GO:0022407, GO:0016055, GO:0010894, GO:0010629, GO:0009267, GO:0008585, GO:0008584, GO:0008584, GO:0001889, GO:0001838, GO:0001837, GO:0001822, GO:0001658, negative regulation of apoptotic signaling pathway, negative regulation of testosterone biosynthetic process, negative regulation of androgen biosynthetic process, positive regulation of cortisol biosynthetic process, negative regulation of male gonad development, metanephric nephron morphogenesis, metanephric tubule formation, metanephric mesenchymal cell differentiation, renal vesicle induction, renal vesicle formation, cellular response to transforming growth factor beta stimulus, negative regulation of testicular blood vessel morphogenesis, paramesonephric duct development, positive regulation of dermatome development, mammary gland epithelium development, negative regulation of wound healing, tertiary branching involved in mammary gland duct morphogenesis, mesenchymal to epithelial transition, thyroid-stimulating hormone-secreting cell differentiation, somatotropin secreting cell differentiation, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of focal adhesion assembly, positive regulation of stress fiber assembly, smooth muscle cell differentiation, oocyte development, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of meiotic nuclear division, positive regulation of osteoblast differentiation, negative regulation of cell differentiation, cell fate commitment, positive regulation of GTPase activity, hormone metabolic process, negative regulation of fibroblast growth factor receptor signaling pathway, non-canonical Wnt signaling pathway via MAPK cascade, immature T cell proliferation in thymus, positive regulation of collagen biosynthetic process, positive regulation of aldosterone biosynthetic process, positive regulation of bone mineralization, negative regulation of cell migration, adrenal gland development, female sex determination, neuron differentiation, regulation of cell-cell adhesion, Wnt signaling pathway, negative regulation of steroid biosynthetic process, negative regulation of gene expression, cellular response to starvation, female gonad development, male gonad development, male gonad development, liver development, embryonic epithelial tube formation, epithelial to mesenchymal transition, kidney development, branching involved in ureteric bud morphogenesis, 6 4 15 3 11 9 17 5 10 ENSG00000162571 chr1 1173884 1197935 + TTLL10 protein_coding 254173 GO:0005829, cytosol, GO:0070735, GO:0005524, GO:0005515, protein-glycine ligase activity, ATP binding, protein binding, GO:0018094, GO:0018094, protein polyglycylation, protein polyglycylation, 1 1 0 6 0 0 1 0 0 ENSG00000162572 chr1 1280436 1292029 + SCNN1D protein_coding 6339 GO:0034706, GO:0016020, GO:0015629, GO:0005887, GO:0005886, GO:0005886, sodium channel complex, membrane, actin cytoskeleton, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015280, GO:0005515, ligand-gated sodium channel activity, protein binding, GO:0050909, GO:0050896, GO:0035725, GO:0034220, GO:0006814, sensory perception of taste, response to stimulus, sodium ion transmembrane transport, ion transmembrane transport, sodium ion transport, 2 7 6 10 8 14 10 9 5 ENSG00000162576 chr1 1352689 1361777 - MXRA8 protein_coding 54587 GO:0070062, GO:0060170, GO:0016021, GO:0009986, GO:0005923, GO:0005788, GO:0005634, extracellular exosome, ciliary membrane, integral component of membrane, cell surface, bicellular tight junction, endoplasmic reticulum lumen, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0060857, GO:0044267, GO:0043687, GO:0016032, GO:0007155, establishment of glial blood-brain barrier, cellular protein metabolic process, post-translational protein modification, viral process, cell adhesion, 2 6 10 14 5 1 18 3 5 ENSG00000162585 chr1 2184461 2212720 - FAAP20 protein_coding 199990 GO:0043240, GO:0043240, GO:0030054, GO:0016604, GO:0005694, GO:0005654, GO:0005654, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, cell junction, nuclear body, chromosome, nucleoplasm, nucleoplasm, GO:0140036, GO:0070530, GO:0070530, GO:0046872, GO:0043130, GO:0031593, GO:0005515, ubiquitin-dependent protein binding, K63-linked polyubiquitin modification-dependent protein binding, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, ubiquitin binding, polyubiquitin modification-dependent protein binding, protein binding, GO:0036297, GO:0036297, GO:0019985, GO:0006974, GO:0006974, interstrand cross-link repair, interstrand cross-link repair, translesion synthesis, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, 171 264 332 151 255 214 139 190 206 ENSG00000162591 chr1 3489920 3611495 - MEGF6 protein_coding 1953 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0008150, biological_process, 952 953 1269 956 1080 1171 1026 842 1020 ENSG00000162592 chr1 3746460 3771645 + CCDC27 protein_coding 148870 GO:0005515, protein binding, 1 3 2 1 2 0 5 0 5 ENSG00000162594 chr1 67138907 67259979 + IL23R protein_coding The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]. 149233 GO:0072536, GO:0072536, GO:0043235, GO:0043235, GO:0009897, GO:0005886, interleukin-23 receptor complex, interleukin-23 receptor complex, receptor complex, receptor complex, external side of plasma membrane, plasma membrane, GO:0042020, GO:0042019, GO:0042019, GO:0019955, GO:0005515, GO:0005143, GO:0005143, GO:0004896, interleukin-23 receptor activity, interleukin-23 binding, interleukin-23 binding, cytokine binding, protein binding, interleukin-12 receptor binding, interleukin-12 receptor binding, cytokine receptor activity, GO:2000330, GO:2000318, GO:0051135, GO:0050829, GO:0045672, GO:0043382, GO:0042531, GO:0042509, GO:0042104, GO:0042102, GO:0038155, GO:0034341, GO:0032819, GO:0032740, GO:0032735, GO:0032729, GO:0032729, GO:0032729, GO:0032725, GO:0032693, GO:0032496, GO:0019221, GO:0019221, GO:0010536, GO:0006954, GO:0002827, GO:0002827, GO:0002230, GO:0002230, GO:0001916, positive regulation of T-helper 17 cell lineage commitment, positive regulation of T-helper 17 type immune response, positive regulation of NK T cell activation, defense response to Gram-negative bacterium, positive regulation of osteoclast differentiation, positive regulation of memory T cell differentiation, positive regulation of tyrosine phosphorylation of STAT protein, regulation of tyrosine phosphorylation of STAT protein, positive regulation of activated T cell proliferation, positive regulation of T cell proliferation, interleukin-23-mediated signaling pathway, response to interferon-gamma, positive regulation of natural killer cell proliferation, positive regulation of interleukin-17 production, positive regulation of interleukin-12 production, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, positive regulation of granulocyte macrophage colony-stimulating factor production, negative regulation of interleukin-10 production, response to lipopolysaccharide, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of activation of Janus kinase activity, inflammatory response, positive regulation of T-helper 1 type immune response, positive regulation of T-helper 1 type immune response, positive regulation of defense response to virus by host, positive regulation of defense response to virus by host, positive regulation of T cell mediated cytotoxicity, 1 0 1 3 1 0 1 3 0 ENSG00000162595 chr1 68045896 68051631 - DIRAS3 protein_coding This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophagosome initiation complex. [provided by RefSeq, Nov 2015]. 9077 GO:0005886, plasma membrane, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GO:0007264, GO:0006349, GO:0000079, small GTPase mediated signal transduction, regulation of gene expression by genetic imprinting, regulation of cyclin-dependent protein serine/threonine kinase activity, 3 0 2 1 1 0 1 0 4 ENSG00000162598 chr1 59987269 60073770 - C1orf87 protein_coding 127795 0 0 0 0 0 0 0 0 0 ENSG00000162599 chr1 60865259 61462793 + NFIA protein_coding This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 4774 GO:0030054, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, cell junction, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:0008134, GO:0003700, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, transcription factor binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072189, GO:0060074, GO:0045944, GO:0019079, GO:0006357, GO:0006355, GO:0006260, ureter development, synapse maturation, positive regulation of transcription by RNA polymerase II, viral genome replication, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, DNA replication, 15 7 14 7 3 3 9 1 17 ENSG00000162600 chr1 58415384 58546802 - OMA1 protein_coding 115209 GO:0031966, GO:0016021, GO:0005743, GO:0005743, mitochondrial membrane, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, GO:0046872, GO:0008289, GO:0004222, GO:0004222, GO:0004222, metal ion binding, lipid binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:1903850, GO:0140468, GO:0140467, GO:0120162, GO:0097009, GO:0043065, GO:0042981, GO:0042407, GO:0034982, GO:0034982, GO:0033108, GO:0031638, GO:0016540, GO:0010637, GO:0010637, GO:0006629, GO:0006515, GO:0006006, GO:0002024, regulation of cristae formation, HRI-mediated signaling, integrated stress response signaling, positive regulation of cold-induced thermogenesis, energy homeostasis, positive regulation of apoptotic process, regulation of apoptotic process, cristae formation, mitochondrial protein processing, mitochondrial protein processing, mitochondrial respiratory chain complex assembly, zymogen activation, protein autoprocessing, negative regulation of mitochondrial fusion, negative regulation of mitochondrial fusion, lipid metabolic process, protein quality control for misfolded or incompletely synthesized proteins, glucose metabolic process, diet induced thermogenesis, 90 65 117 96 86 140 127 68 78 ENSG00000162601 chr1 58654739 58700092 - MYSM1 protein_coding 114803 GO:0032991, GO:0005886, GO:0005654, GO:0005654, GO:0005634, protein-containing complex, plasma membrane, nucleoplasm, nucleoplasm, nucleus, GO:0070122, GO:0046872, GO:0042393, GO:0042393, GO:0008237, GO:0008237, GO:0005515, GO:0004843, GO:0004843, GO:0003713, GO:0003713, GO:0003677, isopeptidase activity, metal ion binding, histone binding, histone binding, metallopeptidase activity, metallopeptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, transcription coactivator activity, transcription coactivator activity, DNA binding, GO:1903706, GO:0051797, GO:0045944, GO:0045944, GO:0043473, GO:0035522, GO:0030334, GO:0016579, GO:0006338, GO:0006338, regulation of hemopoiesis, regulation of hair follicle development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, pigmentation, monoubiquitinated histone H2A deubiquitination, regulation of cell migration, protein deubiquitination, chromatin remodeling, chromatin remodeling, 1347 1231 1559 856 1065 1171 980 770 878 ENSG00000162604 chr1 61681046 61725423 - TM2D1 protein_coding The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]. 83941 GO:0005887, GO:0005654, integral component of plasma membrane, nucleoplasm, GO:0005515, GO:0004930, GO:0001540, protein binding, G protein-coupled receptor activity, amyloid-beta binding, GO:0097190, GO:0007186, apoptotic signaling pathway, G protein-coupled receptor signaling pathway, 133 96 166 86 138 145 141 95 97 ENSG00000162607 chr1 62436297 62451804 + USP1 protein_coding This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]. 7398 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0008233, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004197, peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042769, GO:0036297, GO:0035520, GO:0016579, GO:0016579, GO:0009411, GO:0006511, GO:0006282, GO:0001501, DNA damage response, detection of DNA damage, interstrand cross-link repair, monoubiquitinated protein deubiquitination, protein deubiquitination, protein deubiquitination, response to UV, ubiquitin-dependent protein catabolic process, regulation of DNA repair, skeletal system development, 481 454 497 260 306 310 232 227 319 ENSG00000162613 chr1 77944055 77979110 - FUBP1 protein_coding The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3'-5' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 8880 GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003729, GO:0003723, GO:0003697, protein binding, mRNA binding, RNA binding, single-stranded DNA binding, GO:0010628, GO:0010468, GO:0010468, positive regulation of gene expression, regulation of gene expression, regulation of gene expression, 666 607 929 978 558 1148 877 452 769 ENSG00000162614 chr1 77888513 77943895 + NEXN protein_coding This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]. 91624 GO:0030424, GO:0030018, GO:0015629, GO:0005925, GO:0005912, GO:0005886, axon, Z disc, actin cytoskeleton, focal adhesion, adherens junction, plasma membrane, GO:0098632, GO:0051015, GO:0008307, cell-cell adhesion mediator activity, actin filament binding, structural constituent of muscle, GO:0070593, GO:0051493, GO:0030334, GO:0009617, GO:0007411, GO:0007156, dendrite self-avoidance, regulation of cytoskeleton organization, regulation of cell migration, response to bacterium, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, 4 2 3 3 2 3 4 2 2 ENSG00000162616 chr1 77979175 78017964 + DNAJB4 protein_coding The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds incorrectly folded E-cadherin and targets it for endoplasmic reticulum-associated degradation. This gene is a strong tumor suppressor for colorectal carcinoma, and downregulation of it may serve as a good biomarker for predicting patient outcomes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 11080 GO:0005886, GO:0005829, GO:0005829, GO:0005654, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0051087, GO:0051087, GO:0051082, GO:0005515, GO:0001671, chaperone binding, chaperone binding, unfolded protein binding, protein binding, ATPase activator activity, GO:0051085, GO:0032781, GO:0009408, GO:0006986, chaperone cofactor-dependent protein refolding, positive regulation of ATPase activity, response to heat, response to unfolded protein, 28 22 50 132 56 109 72 42 58 ENSG00000162618 chr1 78889764 79006718 - ADGRL4 protein_coding 64123 GO:0031410, GO:0016021, GO:0005887, GO:0005886, cytoplasmic vesicle, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0005509, GO:0004930, calcium ion binding, G protein-coupled receptor activity, GO:0065003, GO:0007189, GO:0007186, GO:0007166, protein-containing complex assembly, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000162620 chr1 74026015 74198187 - LRRIQ3 protein_coding 127255 GO:0005515, protein binding, 0 0 1 2 1 4 1 0 0 ENSG00000162621 chr1 74469878 74512614 - LRRC53 protein_coding 105378803 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000162623 chr1 74733152 74766678 + TYW3 protein_coding Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]. 127253 GO:0005737, cytoplasm, GO:0008175, GO:0005515, tRNA methyltransferase activity, protein binding, GO:0030488, tRNA methylation, 13 7 28 41 14 40 41 22 21 ENSG00000162624 chr1 75128434 75161533 + LHX8 protein_coding The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 431707 GO:0005634, GO:0001674, GO:0000785, nucleus, female germ cell nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0042475, GO:0030182, GO:0021884, GO:0008585, GO:0007611, GO:0006357, odontogenesis of dentin-containing tooth, neuron differentiation, forebrain neuron development, female gonad development, learning or memory, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000162627 chr1 98661701 98760500 + SNX7 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]. 51375 GO:0030659, cytoplasmic vesicle membrane, GO:0035091, GO:0005515, phosphatidylinositol binding, protein binding, GO:0015031, protein transport, 0 0 1 0 0 3 0 0 1 ENSG00000162630 chr1 193179045 193186654 - B3GALT2 protein_coding This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]. 8707 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0047275, GO:0008532, GO:0008499, GO:0008376, GO:0008375, glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0030311, GO:0009312, GO:0006682, GO:0006486, GO:0006486, poly-N-acetyllactosamine biosynthetic process, oligosaccharide biosynthetic process, galactosylceramide biosynthetic process, protein glycosylation, protein glycosylation, 12 5 12 6 6 2 14 1 22 ENSG00000162631 chr1 107140007 107483458 + NTNG1 protein_coding This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015]. 22854 GO:0098978, GO:0046658, GO:0043256, GO:0005886, GO:0005886, GO:0005576, glutamatergic synapse, anchored component of plasma membrane, laminin complex, plasma membrane, plasma membrane, extracellular region, GO:0098632, GO:0098632, GO:0050839, GO:0005515, cell-cell adhesion mediator activity, cell-cell adhesion mediator activity, cell adhesion molecule binding, protein binding, GO:2001222, GO:0150011, GO:0099560, GO:0070831, GO:0034446, GO:0016477, GO:0010975, GO:0009888, GO:0009887, GO:0007409, regulation of neuron migration, regulation of neuron projection arborization, synaptic membrane adhesion, basement membrane assembly, substrate adhesion-dependent cell spreading, cell migration, regulation of neuron projection development, tissue development, animal organ morphogenesis, axonogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000162636 chr1 108560089 108644900 + FAM102B protein_coding 284611 96 99 214 73 77 161 79 59 100 ENSG00000162639 chr1 108648290 108661526 - HENMT1 protein_coding 113802 GO:0043186, GO:0005737, GO:0005634, P granule, cytoplasm, nucleus, GO:0090486, GO:0046872, GO:0008173, GO:0008173, GO:0008171, GO:0008171, GO:0005515, GO:0003723, small RNA 2'-O-methyltransferase, metal ion binding, RNA methyltransferase activity, RNA methyltransferase activity, O-methyltransferase activity, O-methyltransferase activity, protein binding, RNA binding, GO:0034587, GO:0034587, GO:0030422, GO:0001510, GO:0001510, piRNA metabolic process, piRNA metabolic process, production of siRNA involved in RNA interference, RNA methylation, RNA methylation, 68 62 90 62 60 91 72 62 57 ENSG00000162641 chr1 108815898 108858228 - AKNAD1 protein_coding This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]. 254268 0 0 1 1 1 4 3 2 4 ENSG00000162642 chr1 85249953 85259672 - C1orf52 protein_coding 148423 GO:0005654, nucleoplasm, GO:0003723, RNA binding, 294 293 388 224 341 348 237 271 283 ENSG00000162643 chr1 84999147 85133138 + WDR63 protein_coding 126820 GO:0036156, GO:0005858, GO:0005737, inner dynein arm, axonemal dynein complex, cytoplasm, GO:0071933, GO:0045504, GO:0045503, GO:0005515, Arp2/3 complex binding, dynein heavy chain binding, dynein light chain binding, protein binding, GO:0060294, GO:0045669, GO:0036159, GO:0034316, GO:0030336, GO:0007018, cilium movement involved in cell motility, positive regulation of osteoblast differentiation, inner dynein arm assembly, negative regulation of Arp2/3 complex-mediated actin nucleation, negative regulation of cell migration, microtubule-based movement, 0 0 1 0 0 5 3 0 0 ENSG00000162645 chr1 89106132 89150456 - GBP2 protein_coding This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013]. 2634 GO:0048471, GO:0031410, GO:0015629, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005634, GO:0000139, perinuclear region of cytoplasm, cytoplasmic vesicle, actin cytoskeleton, cytosol, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, Golgi membrane, GO:0042803, GO:0005525, GO:0005515, GO:0003924, protein homodimerization activity, GTP binding, protein binding, GTPase activity, GO:0071356, GO:0071347, GO:0071346, GO:0071346, GO:0060337, GO:0060333, GO:0050830, GO:0042832, GO:0034504, GO:0006955, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, cellular response to interferon-gamma, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to Gram-positive bacterium, defense response to protozoan, protein localization to nucleus, immune response, 7530 6844 13199 4733 6371 8090 5302 4710 6941 ENSG00000162650 chr1 109483479 109492804 + ATXN7L2 protein_coding 127002 47 57 51 50 53 50 47 40 66 ENSG00000162654 chr1 89181148 89198932 - GBP4 protein_coding Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]. 115361 GO:0048471, GO:0031410, GO:0005886, GO:0005829, GO:0005794, GO:0005634, GO:0000139, perinuclear region of cytoplasm, cytoplasmic vesicle, plasma membrane, cytosol, Golgi apparatus, nucleus, Golgi membrane, GO:0042803, GO:0005525, GO:0005515, GO:0003924, protein homodimerization activity, GTP binding, protein binding, GTPase activity, GO:0071346, GO:0071346, GO:0050830, GO:0042832, cellular response to interferon-gamma, cellular response to interferon-gamma, defense response to Gram-positive bacterium, defense response to protozoan, 400 363 1098 333 274 562 333 236 465 ENSG00000162664 chr1 89995112 90035531 + ZNF326 protein_coding 284695 GO:0044609, GO:0044609, GO:0043231, GO:0005654, GO:0005634, DBIRD complex, DBIRD complex, intracellular membrane-bounded organelle, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003723, GO:0003677, GO:0000993, metal ion binding, protein binding, RNA binding, DNA binding, RNA polymerase II complex binding, GO:0043484, GO:0032784, GO:0032784, GO:0008380, GO:0006397, regulation of RNA splicing, regulation of DNA-templated transcription, elongation, regulation of DNA-templated transcription, elongation, RNA splicing, mRNA processing, 186 194 272 147 139 150 132 89 138 ENSG00000162669 chr1 91260766 91404869 - HFM1 protein_coding The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]. 164045 GO:0010494, cytoplasmic stress granule, GO:0005524, GO:0003729, GO:0003678, ATP binding, mRNA binding, DNA helicase activity, GO:0032508, GO:0006417, GO:0000712, DNA duplex unwinding, regulation of translation, resolution of meiotic recombination intermediates, 0 0 0 0 0 0 0 0 0 ENSG00000162670 chr1 190097662 190478404 - BRINP3 protein_coding This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 339479 GO:0043025, GO:0030425, GO:0005783, GO:0005739, GO:0005576, neuronal cell body, dendrite, endoplasmic reticulum, mitochondrion, extracellular region, GO:0071300, GO:0071300, GO:0045930, GO:0045930, GO:0045666, GO:0045666, GO:0007050, cellular response to retinoic acid, cellular response to retinoic acid, negative regulation of mitotic cell cycle, negative regulation of mitotic cell cycle, positive regulation of neuron differentiation, positive regulation of neuron differentiation, cell cycle arrest, 0 0 0 0 0 0 0 0 0 ENSG00000162676 chr1 92474762 92486876 - GFI1 protein_coding This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]. 2672 GO:0017053, GO:0016604, GO:0016363, GO:0005634, GO:0000785, transcription repressor complex, nuclear body, nuclear matrix, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0001227, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071222, GO:0070105, GO:0051569, GO:0045892, GO:0034121, GO:0032088, GO:0030097, GO:0016032, GO:0010977, GO:0010957, GO:0010956, GO:0006357, GO:0000122, GO:0000083, cellular response to lipopolysaccharide, positive regulation of interleukin-6-mediated signaling pathway, regulation of histone H3-K4 methylation, negative regulation of transcription, DNA-templated, regulation of toll-like receptor signaling pathway, negative regulation of NF-kappaB transcription factor activity, hemopoiesis, viral process, negative regulation of neuron projection development, negative regulation of vitamin D biosynthetic process, negative regulation of calcidiol 1-monooxygenase activity, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, 16 14 52 30 6 49 24 12 56 ENSG00000162685 chr5 28926816 28927023 + LSP1P3 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000162687 chr1 196225779 196609225 - KCNT2 protein_coding 343450 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0070089, GO:0015271, GO:0005524, GO:0005228, chloride-activated potassium channel activity, outward rectifier potassium channel activity, ATP binding, intracellular sodium activated potassium channel activity, GO:0097623, potassium ion export across plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000162688 chr1 99850084 99924023 + AGL protein_coding This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 178 GO:1904813, GO:0043033, GO:0034774, GO:0016529, GO:0016234, GO:0005829, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, isoamylase complex, secretory granule lumen, sarcoplasmic reticulum, inclusion body, cytosol, cytoplasm, nucleus, extracellular region, GO:0102500, GO:0031593, GO:0030247, GO:0005515, GO:0004135, GO:0004135, GO:0004134, GO:0004134, GO:0004133, beta-maltose 4-alpha-glucanotransferase activity, polyubiquitin modification-dependent protein binding, polysaccharide binding, protein binding, amylo-alpha-1,6-glucosidase activity, amylo-alpha-1,6-glucosidase activity, 4-alpha-glucanotransferase activity, 4-alpha-glucanotransferase activity, glycogen debranching enzyme activity, GO:0051384, GO:0043312, GO:0007584, GO:0005980, GO:0005980, GO:0005978, response to glucocorticoid, neutrophil degranulation, response to nutrient, glycogen catabolic process, glycogen catabolic process, glycogen biosynthetic process, 125 138 191 93 112 149 137 79 95 ENSG00000162692 chr1 100719742 100739045 + VCAM1 protein_coding This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]. 7412 GO:0071065, GO:0070062, GO:0045177, GO:0042383, GO:0030175, GO:0009986, GO:0009897, GO:0005902, GO:0005887, GO:0005886, GO:0005794, GO:0005783, GO:0005769, GO:0005615, GO:0002102, alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex, extracellular exosome, apical part of cell, sarcolemma, filopodium, cell surface, external side of plasma membrane, microvillus, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, early endosome, extracellular space, podosome, GO:0050839, GO:0050839, GO:0008131, GO:0005178, GO:0005178, GO:0005178, cell adhesion molecule binding, cell adhesion molecule binding, primary amine oxidase activity, integrin binding, integrin binding, integrin binding, GO:1904646, GO:0140039, GO:0071356, GO:0060945, GO:0060384, GO:0060333, GO:0060326, GO:0055114, GO:0050901, GO:0050901, GO:0050776, GO:0045471, GO:0042102, GO:0035924, GO:0035584, GO:0035094, GO:0034113, GO:0032496, GO:0030198, GO:0030183, GO:0022614, GO:0019221, GO:0010212, GO:0010043, GO:0009308, GO:0007584, GO:0007568, GO:0007160, GO:0007159, GO:0007157, GO:0007155, GO:0007155, GO:0002544, GO:0002526, GO:0001666, cellular response to amyloid-beta, cell-cell adhesion in response to extracellular stimulus, cellular response to tumor necrosis factor, cardiac neuron differentiation, innervation, interferon-gamma-mediated signaling pathway, cell chemotaxis, oxidation-reduction process, leukocyte tethering or rolling, leukocyte tethering or rolling, regulation of immune response, response to ethanol, positive regulation of T cell proliferation, cellular response to vascular endothelial growth factor stimulus, calcium-mediated signaling using intracellular calcium source, response to nicotine, heterotypic cell-cell adhesion, response to lipopolysaccharide, extracellular matrix organization, B cell differentiation, membrane to membrane docking, cytokine-mediated signaling pathway, response to ionizing radiation, response to zinc ion, amine metabolic process, response to nutrient, aging, cell-matrix adhesion, leukocyte cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, cell adhesion, cell adhesion, chronic inflammatory response, acute inflammatory response, response to hypoxia, 2 0 33 2 0 4 7 0 0 ENSG00000162694 chr1 100872372 100895998 - EXTL2 protein_coding 2135 GO:0016021, GO:0005829, GO:0005789, GO:0005783, GO:0005654, GO:0005576, integral component of membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, extracellular region, GO:0047237, GO:0035248, GO:0030145, GO:0005539, GO:0005515, GO:0001888, glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, alpha-1,4-N-acetylgalactosaminyltransferase activity, manganese ion binding, glycosaminoglycan binding, protein binding, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, GO:0036498, GO:0019276, GO:0015012, GO:0006486, GO:0006044, IRE1-mediated unfolded protein response, UDP-N-acetylgalactosamine metabolic process, heparan sulfate proteoglycan biosynthetic process, protein glycosylation, N-acetylglucosamine metabolic process, 1 1 5 4 3 17 3 3 12 ENSG00000162695 chr1 100896076 100981753 + SLC30A7 protein_coding Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]. 148867 GO:0048471, GO:0031982, GO:0031410, GO:0016021, GO:0005794, GO:0005794, GO:0005737, perinuclear region of cytoplasm, vesicle, cytoplasmic vesicle, integral component of membrane, Golgi apparatus, Golgi apparatus, cytoplasm, GO:0008324, cation transmembrane transporter activity, GO:0098655, GO:0032119, GO:0006829, cation transmembrane transport, sequestering of zinc ion, zinc ion transport, 215 201 306 253 174 264 216 110 154 ENSG00000162699 chr1 101893105 101894047 + DNAJA1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000162702 chr1 200404940 200410056 - ZNF281 protein_coding 23528 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0001227, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0048863, GO:0045893, GO:0045892, GO:0045892, GO:0010629, GO:0010629, GO:0010172, GO:0006355, GO:0000122, stem cell differentiation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of gene expression, negative regulation of gene expression, embryonic body morphogenesis, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 505 341 1119 251 331 658 392 290 602 ENSG00000162704 chr1 183620846 183635757 - ARPC5 protein_coding This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 10092 GO:1904813, GO:0070062, GO:0035861, GO:0034774, GO:0030426, GO:0030027, GO:0015629, GO:0005925, GO:0005885, GO:0005885, GO:0005829, GO:0005768, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, site of double-strand break, secretory granule lumen, growth cone, lamellipodium, actin cytoskeleton, focal adhesion, Arp2/3 protein complex, Arp2/3 protein complex, cytosol, endosome, cytoplasm, nucleus, extracellular region, GO:0051015, GO:0005515, GO:0005200, actin filament binding, protein binding, structural constituent of cytoskeleton, GO:0097581, GO:0061842, GO:0061024, GO:0051639, GO:0048013, GO:0043312, GO:0038096, GO:0034314, GO:0034314, GO:0030036, GO:0030011, GO:0021769, GO:0016477, GO:0016477, GO:0014909, lamellipodium organization, microtubule organizing center localization, membrane organization, actin filament network formation, ephrin receptor signaling pathway, neutrophil degranulation, Fc-gamma receptor signaling pathway involved in phagocytosis, Arp2/3 complex-mediated actin nucleation, Arp2/3 complex-mediated actin nucleation, actin cytoskeleton organization, maintenance of cell polarity, orbitofrontal cortex development, cell migration, cell migration, smooth muscle cell migration, 7613 6146 7513 1948 3114 2367 2584 3224 2119 ENSG00000162706 chr1 159171609 159203313 + CADM3 protein_coding The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]. 57863 GO:0099056, GO:0098688, GO:0005911, GO:0005886, integral component of presynaptic membrane, parallel fiber to Purkinje cell synapse, cell-cell junction, plasma membrane, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0034332, GO:0008104, GO:0007157, GO:0007156, adherens junction organization, protein localization, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 0 0 0 0 0 0 0 ENSG00000162711 chr1 247416156 247449108 + NLRP3 protein_coding This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]. 114548 GO:0072559, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005634, GO:0005576, GO:0000139, NLRP3 inflammasome complex, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, extracellular region, Golgi membrane, GO:0043565, GO:0042834, GO:0042802, GO:0008134, GO:0005524, GO:0005515, sequence-specific DNA binding, peptidoglycan binding, identical protein binding, transcription factor binding, ATP binding, protein binding, GO:2000553, GO:2000321, GO:1901223, GO:1901223, GO:0071224, GO:0071222, GO:0071222, GO:0051607, GO:0051092, GO:0051092, GO:0050830, GO:0050728, GO:0045944, GO:0045630, GO:0045471, GO:0045087, GO:0044546, GO:0043280, GO:0043280, GO:0032754, GO:0032753, GO:0032736, GO:0032731, GO:0032731, GO:0032691, GO:0032621, GO:0032611, GO:0032088, GO:0016579, GO:0014070, GO:0009595, GO:0007165, GO:0006954, GO:0006952, GO:0006919, GO:0006915, GO:0002830, GO:0002674, GO:0002523, GO:0002367, positive regulation of T-helper 2 cell cytokine production, positive regulation of T-helper 17 cell differentiation, negative regulation of NIK/NF-kappaB signaling, negative regulation of NIK/NF-kappaB signaling, cellular response to peptidoglycan, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, defense response to Gram-positive bacterium, negative regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of T-helper 2 cell differentiation, response to ethanol, innate immune response, NLRP3 inflammasome complex assembly, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of interleukin-5 production, positive regulation of interleukin-4 production, positive regulation of interleukin-13 production, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 beta production, negative regulation of interleukin-1 beta production, interleukin-18 production, interleukin-1 beta production, negative regulation of NF-kappaB transcription factor activity, protein deubiquitination, response to organic cyclic compound, detection of biotic stimulus, signal transduction, inflammatory response, defense response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, positive regulation of type 2 immune response, negative regulation of acute inflammatory response, leukocyte migration involved in inflammatory response, cytokine production involved in immune response, 575 783 872 166 326 183 201 242 156 ENSG00000162714 chr1 247297412 247331846 - ZNF496 protein_coding 84838 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003677, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0006357, positive regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 45 47 47 46 36 47 67 38 53 ENSG00000162722 chr1 247857199 247878205 + TRIM58 protein_coding 25893 GO:0005737, cytoplasm, GO:0061630, GO:0045505, GO:0045504, GO:0008270, GO:0003674, ubiquitin protein ligase activity, dynein intermediate chain binding, dynein heavy chain binding, zinc ion binding, molecular_function, GO:1902838, GO:0061931, GO:0051865, GO:0045087, GO:0016567, GO:0010468, GO:0008150, GO:0006511, GO:0000209, regulation of nuclear migration along microtubule, positive regulation of erythrocyte enucleation, protein autoubiquitination, innate immune response, protein ubiquitination, regulation of gene expression, biological_process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 5 3 7 15 2 5 8 6 0 ENSG00000162723 chr1 159951492 159954254 - SLAMF9 protein_coding This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009]. 89886 GO:0016021, integral component of membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 0 1 0 5 2 9 0 0 0 ENSG00000162727 chr1 248145148 248146086 + OR2M5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127059 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000162728 chr1 160081570 160090563 + KCNJ9 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]. 3765 GO:0099056, GO:0098688, GO:0005886, GO:0005886, integral component of presynaptic membrane, parallel fiber to Purkinje cell synapse, plasma membrane, plasma membrane, GO:0015467, GO:0005515, GO:0005242, G-protein activated inward rectifier potassium channel activity, protein binding, inward rectifier potassium channel activity, GO:1990573, GO:0034765, potassium ion import across plasma membrane, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000162729 chr1 160091340 160098943 - IGSF8 protein_coding This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]. 93185 GO:0070062, GO:0043231, GO:0016021, GO:0016021, GO:0016020, GO:0005886, extracellular exosome, intracellular membrane-bounded organelle, integral component of membrane, integral component of membrane, membrane, plasma membrane, GO:0005515, protein binding, GO:0048870, GO:0007519, GO:0007399, GO:0007338, cell motility, skeletal muscle tissue development, nervous system development, single fertilization, 18 18 36 90 32 117 93 37 61 ENSG00000162733 chr1 162631373 162787400 + DDR2 protein_coding This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]. 4921 GO:0043235, GO:0016324, GO:0015629, GO:0005925, GO:0005887, GO:0005886, GO:0005886, receptor complex, apical plasma membrane, actin cytoskeleton, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038062, GO:0038062, GO:0005524, GO:0005518, GO:0005518, GO:0005515, GO:0004714, GO:0004714, protein tyrosine kinase collagen receptor activity, protein tyrosine kinase collagen receptor activity, ATP binding, collagen binding, collagen binding, protein binding, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, GO:0090091, GO:0051091, GO:0048146, GO:0046777, GO:0045860, GO:0045669, GO:0038063, GO:0035988, GO:0035988, GO:0034103, GO:0033674, GO:0031214, GO:0030500, GO:0030199, GO:0030198, GO:0018108, GO:0010763, GO:0010763, GO:0010715, GO:0007275, GO:0007169, GO:0007165, GO:0007155, GO:0003416, GO:0001503, positive regulation of extracellular matrix disassembly, positive regulation of DNA-binding transcription factor activity, positive regulation of fibroblast proliferation, protein autophosphorylation, positive regulation of protein kinase activity, positive regulation of osteoblast differentiation, collagen-activated tyrosine kinase receptor signaling pathway, chondrocyte proliferation, chondrocyte proliferation, regulation of tissue remodeling, positive regulation of kinase activity, biomineral tissue development, regulation of bone mineralization, collagen fibril organization, extracellular matrix organization, peptidyl-tyrosine phosphorylation, positive regulation of fibroblast migration, positive regulation of fibroblast migration, regulation of extracellular matrix disassembly, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, cell adhesion, endochondral bone growth, ossification, 1 4 1 1 2 0 4 0 1 ENSG00000162734 chr1 160205337 160215376 + PEA15 protein_coding This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 8682 GO:0005875, GO:0005829, GO:0005829, GO:0005654, microtubule associated complex, cytosol, cytosol, nucleoplasm, GO:0005515, protein binding, GO:1902043, GO:1902042, GO:1902042, GO:0046325, GO:0043278, GO:0008643, GO:0006915, GO:0000187, GO:0000165, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of glucose import, response to morphine, carbohydrate transport, apoptotic process, activation of MAPK activity, MAPK cascade, 44 48 80 164 81 147 98 52 126 ENSG00000162735 chr1 160276812 160286348 - PEX19 protein_coding This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]. 5824 GO:0032991, GO:0031526, GO:0005829, GO:0005829, GO:0005778, GO:0005778, GO:0005778, GO:0005777, GO:0005777, GO:0005737, GO:0005737, GO:0005654, protein-containing complex, brush border membrane, cytosol, cytosol, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, peroxisome, cytoplasm, cytoplasm, nucleoplasm, GO:0051117, GO:0047485, GO:0036105, GO:0033328, GO:0005515, ATPase binding, protein N-terminus binding, peroxisome membrane class-1 targeting sequence binding, peroxisome membrane targeting sequence binding, protein binding, GO:1900131, GO:0072663, GO:0072321, GO:0061077, GO:0055085, GO:0050821, GO:0045046, GO:0045046, GO:0016559, GO:0007031, GO:0007031, GO:0006625, GO:0006625, negative regulation of lipid binding, establishment of protein localization to peroxisome, chaperone-mediated protein transport, chaperone-mediated protein folding, transmembrane transport, protein stabilization, protein import into peroxisome membrane, protein import into peroxisome membrane, peroxisome fission, peroxisome organization, peroxisome organization, protein targeting to peroxisome, protein targeting to peroxisome, 96 123 128 51 111 107 78 91 72 ENSG00000162736 chr1 160343272 160358952 + NCSTN protein_coding This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]. 23385 GO:0099056, GO:0070765, GO:0070765, GO:0070062, GO:0042470, GO:0042383, GO:0035577, GO:0016021, GO:0016021, GO:0016020, GO:0010008, GO:0008021, GO:0005925, GO:0005887, GO:0005887, GO:0005886, GO:0005794, GO:0005783, GO:0005769, GO:0005765, GO:0005739, integral component of presynaptic membrane, gamma-secretase complex, gamma-secretase complex, extracellular exosome, melanosome, sarcolemma, azurophil granule membrane, integral component of membrane, integral component of membrane, membrane, endosome membrane, synaptic vesicle, focal adhesion, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, early endosome, lysosomal membrane, mitochondrion, GO:0070851, GO:0051117, GO:0005515, GO:0004175, growth factor receptor binding, ATPase binding, protein binding, endopeptidase activity, GO:1990926, GO:1900271, GO:0071277, GO:0051402, GO:0050673, GO:0048013, GO:0044267, GO:0043312, GO:0043085, GO:0043065, GO:0042987, GO:0042986, GO:0042983, GO:0042982, GO:0042098, GO:0035333, GO:0034205, GO:0031293, GO:0030534, GO:0022010, GO:0021549, GO:0016485, GO:0016485, GO:0007611, GO:0007220, GO:0007220, GO:0007215, GO:0007212, GO:0006509, GO:0006508, GO:0002262, short-term synaptic potentiation, regulation of long-term synaptic potentiation, cellular response to calcium ion, neuron apoptotic process, epithelial cell proliferation, ephrin receptor signaling pathway, cellular protein metabolic process, neutrophil degranulation, positive regulation of catalytic activity, positive regulation of apoptotic process, amyloid precursor protein catabolic process, positive regulation of amyloid precursor protein biosynthetic process, amyloid precursor protein biosynthetic process, amyloid precursor protein metabolic process, T cell proliferation, Notch receptor processing, ligand-dependent, amyloid-beta formation, membrane protein intracellular domain proteolysis, adult behavior, central nervous system myelination, cerebellum development, protein processing, protein processing, learning or memory, Notch receptor processing, Notch receptor processing, glutamate receptor signaling pathway, dopamine receptor signaling pathway, membrane protein ectodomain proteolysis, proteolysis, myeloid cell homeostasis, 1471 1927 2356 622 1255 1081 793 962 743 ENSG00000162738 chr1 160400586 160428678 + VANGL2 protein_coding The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]. 57216 GO:0060187, GO:0030134, GO:0016328, GO:0016324, GO:0016323, GO:0016021, GO:0005911, GO:0005886, GO:0005886, GO:0001725, cell pole, COPII-coated ER to Golgi transport vesicle, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, cell-cell junction, plasma membrane, plasma membrane, stress fiber, GO:0005515, protein binding, GO:1905515, GO:1904938, GO:0090179, GO:0090177, GO:0090103, GO:0061346, GO:0060993, GO:0060490, GO:0060489, GO:0060488, GO:0060122, GO:0060071, GO:0060028, GO:0048546, GO:0048105, GO:0048103, GO:0045197, GO:0045176, GO:0043507, GO:0042060, GO:0036515, GO:0036514, GO:0036342, GO:0035787, GO:0035019, GO:0032956, GO:0032835, GO:0030111, GO:0022007, GO:0015012, GO:0009952, GO:0007266, GO:0003402, GO:0003150, GO:0003149, GO:0001947, GO:0001942, GO:0001843, GO:0001736, GO:0001736, non-motile cilium assembly, planar cell polarity pathway involved in axon guidance, planar cell polarity pathway involved in neural tube closure, establishment of planar polarity involved in neural tube closure, cochlea morphogenesis, planar cell polarity pathway involved in heart morphogenesis, kidney morphogenesis, lateral sprouting involved in lung morphogenesis, planar dichotomous subdivision of terminal units involved in lung branching morphogenesis, orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis, inner ear receptor cell stereocilium organization, Wnt signaling pathway, planar cell polarity pathway, convergent extension involved in axis elongation, digestive tract morphogenesis, establishment of body hair planar orientation, somatic stem cell division, establishment or maintenance of epithelial cell apical/basal polarity, apical protein localization, positive regulation of JUN kinase activity, wound healing, serotonergic neuron axon guidance, dopaminergic neuron axon guidance, post-anal tail morphogenesis, cell migration involved in kidney development, somatic stem cell population maintenance, regulation of actin cytoskeleton organization, glomerulus development, regulation of Wnt signaling pathway, convergent extension involved in neural plate elongation, heparan sulfate proteoglycan biosynthetic process, anterior/posterior pattern specification, Rho protein signal transduction, planar cell polarity pathway involved in axis elongation, muscular septum morphogenesis, membranous septum morphogenesis, heart looping, hair follicle development, neural tube closure, establishment of planar polarity, establishment of planar polarity, 0 0 0 0 0 0 0 0 0 ENSG00000162739 chr1 160485030 160523262 - SLAMF6 protein_coding The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]. 114836 GO:0070062, GO:0016021, GO:0005886, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0072540, GO:0050776, GO:0045954, GO:0045087, GO:0032740, GO:0032729, T-helper 17 cell lineage commitment, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, innate immune response, positive regulation of interleukin-17 production, positive regulation of interferon-gamma production, 63 87 81 221 139 357 200 136 226 ENSG00000162745 chr1 161983192 162023854 - OLFML2B protein_coding This gene encodes an olfactomedin domain-containing protein. Most olfactomedin domain-containing proteins are secreted glycoproteins. [provided by RefSeq, Dec 2016]. 25903 GO:0005576, extracellular region, 1 0 0 1 1 2 0 1 0 ENSG00000162746 chr1 161721563 161728143 + FCRLB protein_coding FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]. 127943 GO:0005887, GO:0005783, GO:0005737, integral component of plasma membrane, endoplasmic reticulum, cytoplasm, GO:0004888, transmembrane signaling receptor activity, GO:0050777, GO:0007166, negative regulation of immune response, cell surface receptor signaling pathway, 6 6 5 19 6 2 11 3 2 ENSG00000162747 chr1 161623196 161631963 - FCGR3B protein_coding The protein encoded by this gene is a low affinity receptor for the Fc region of gamma immunoglobulins (IgG). The encoded protein acts as a monomer and can bind either monomeric or aggregated IgG. This gene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding different isoforms have been found for this gene. A highly-similar gene encoding a related protein is also found on chromosome 1. [provided by RefSeq, Aug 2012]. 2215 GO:0070062, GO:0031225, GO:0030667, GO:0005887, GO:0005886, GO:0005576, extracellular exosome, anchored component of membrane, secretory granule membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0019864, GO:0004888, IgG binding, transmembrane signaling receptor activity, GO:0050776, GO:0043312, GO:0007166, GO:0006955, regulation of immune response, neutrophil degranulation, cell surface receptor signaling pathway, immune response, 52459 44521 68504 12345 31562 21421 18153 27572 22183 ENSG00000162753 chr1 173500464 173603094 - SLC9C2 protein_coding 284525 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015386, GO:0015385, potassium:proton antiporter activity, sodium:proton antiporter activity, GO:1902600, GO:0098719, GO:0098656, GO:0071805, GO:0051453, proton transmembrane transport, sodium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, 0 0 0 0 0 0 0 0 0 ENSG00000162755 chr1 161098361 161100346 + KLHDC9 protein_coding 126823 GO:0005575, cellular_component, GO:0030332, GO:0030332, GO:0005515, cyclin binding, cyclin binding, protein binding, GO:0008150, biological_process, 0 0 0 0 2 3 0 0 0 ENSG00000162757 chr1 209779208 209784559 - C1orf74 protein_coding 148304 GO:0005515, protein binding, 1099 946 1241 412 434 617 595 392 469 ENSG00000162761 chr1 165201867 165356715 - LMX1A protein_coding This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 4009 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1904948, GO:1904948, GO:0071542, GO:0050808, GO:0045944, GO:0045665, GO:0042048, GO:0030182, GO:0021549, GO:0021542, GO:0007626, GO:0007613, GO:0007411, GO:0006357, GO:0001558, midbrain dopaminergic neuron differentiation, midbrain dopaminergic neuron differentiation, dopaminergic neuron differentiation, synapse organization, positive regulation of transcription by RNA polymerase II, negative regulation of neuron differentiation, olfactory behavior, neuron differentiation, cerebellum development, dentate gyrus development, locomotory behavior, memory, axon guidance, regulation of transcription by RNA polymerase II, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000162763 chr1 165544007 165563961 + LRRC52 protein_coding 440699 GO:0008076, GO:0008076, GO:0005887, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, GO:0099104, GO:0099104, GO:0044325, GO:0044325, GO:0005515, GO:0005249, GO:0005249, potassium channel activator activity, potassium channel activator activity, ion channel binding, ion channel binding, protein binding, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:1903818, GO:0071805, GO:0022414, positive regulation of voltage-gated potassium channel activity, potassium ion transmembrane transport, reproductive process, 0 0 0 0 0 0 0 0 0 ENSG00000162769 chr1 212858255 212899363 + FLVCR1 protein_coding This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]. 28982 GO:0031966, GO:0016021, GO:0005886, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, plasma membrane, mitochondrion, mitochondrion, GO:0020037, GO:0015232, GO:0015232, GO:0015232, GO:0015232, GO:0005515, heme binding, heme transmembrane transporter activity, heme transmembrane transporter activity, heme transmembrane transporter activity, heme transmembrane transporter activity, protein binding, GO:0097037, GO:0097037, GO:0060323, GO:0055085, GO:0048704, GO:0048536, GO:0046620, GO:0043249, GO:0042733, GO:0035264, GO:0030218, GO:0030218, GO:0015886, GO:0006879, GO:0006839, GO:0006839, GO:0001701, GO:0001568, heme export, heme export, head morphogenesis, transmembrane transport, embryonic skeletal system morphogenesis, spleen development, regulation of organ growth, erythrocyte maturation, embryonic digit morphogenesis, multicellular organism growth, erythrocyte differentiation, erythrocyte differentiation, heme transport, cellular iron ion homeostasis, mitochondrial transport, mitochondrial transport, in utero embryonic development, blood vessel development, 316 262 254 228 278 180 248 210 108 ENSG00000162771 chr1 212624474 212626778 + FAM71A protein_coding This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]. 149647 GO:0005634, nucleus, GO:0005515, protein binding, 0 0 0 0 0 5 0 0 0 ENSG00000162772 chr1 212565334 212620777 + ATF3 protein_coding This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011]. 467 GO:1990622, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, CHOP-ATF3 complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046982, GO:0042803, GO:0042802, GO:0005515, GO:0003700, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, protein heterodimerization activity, protein homodimerization activity, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990440, GO:1903984, GO:0070373, GO:0061394, GO:0045944, GO:0036499, GO:0035914, GO:0034198, GO:0008284, GO:0006357, GO:0006094, GO:0000122, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of TRAIL-activated apoptotic signaling pathway, negative regulation of ERK1 and ERK2 cascade, regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance, positive regulation of transcription by RNA polymerase II, PERK-mediated unfolded protein response, skeletal muscle cell differentiation, cellular response to amino acid starvation, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, gluconeogenesis, negative regulation of transcription by RNA polymerase II, 79 46 73 922 958 963 694 582 707 ENSG00000162775 chr1 110338506 110346681 + RBM15 protein_coding Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]. 64783 GO:0036396, GO:0031965, GO:0016607, GO:0005654, GO:0005634, RNA N6-methyladenosine methyltransferase complex, nuclear membrane, nuclear speck, nucleoplasm, nucleus, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003676, protein binding, mRNA binding, RNA binding, RNA binding, nucleic acid binding, GO:0060674, GO:0060412, GO:0048536, GO:0045892, GO:0045652, GO:0045638, GO:0038163, GO:0016032, GO:0009048, GO:0007221, GO:0001569, GO:0001510, GO:0000398, GO:0000381, placenta blood vessel development, ventricular septum morphogenesis, spleen development, negative regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, negative regulation of myeloid cell differentiation, thrombopoietin-mediated signaling pathway, viral process, dosage compensation by inactivation of X chromosome, positive regulation of transcription of Notch receptor target, branching involved in blood vessel morphogenesis, RNA methylation, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 265 311 285 224 301 475 338 305 350 ENSG00000162777 chr1 111187174 111204535 - DENND2D protein_coding 79961 GO:0005829, GO:0005829, GO:0005654, GO:0005654, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, 118 126 254 456 388 503 310 328 327 ENSG00000162779 chr1 179365720 179554735 + AXDND1 protein_coding 126859 1 0 0 0 1 0 3 0 0 ENSG00000162782 chr1 179591613 179691272 + TDRD5 protein_coding 163589 GO:0071546, GO:0033391, pi-body, chromatoid body, GO:0043046, GO:0030719, GO:0007286, DNA methylation involved in gamete generation, P granule organization, spermatid development, 0 0 0 0 0 0 0 0 0 ENSG00000162783 chr1 181088712 181092899 + IER5 protein_coding This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008]. 51278 GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000159, cytoplasm, nucleolus, nucleoplasm, nucleus, protein phosphatase type 2A complex, GO:0042802, GO:0042802, GO:0005515, identical protein binding, identical protein binding, protein binding, GO:1900036, GO:0045944, GO:0042127, GO:0034605, positive regulation of cellular response to heat, positive regulation of transcription by RNA polymerase II, regulation of cell population proliferation, cellular response to heat, 473 457 2548 1279 1755 2217 1182 889 2122 ENSG00000162804 chr2 240998838 241095568 + SNED1 protein_coding 25992 GO:0005576, extracellular region, GO:0005509, GO:0005112, calcium ion binding, Notch binding, GO:0007160, cell-matrix adhesion, 32 38 56 73 52 100 66 41 45 ENSG00000162813 chr1 220057482 220090462 - BPNT1 protein_coding BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008]. 10380 GO:0005829, cytosol, GO:0046872, GO:0008441, GO:0008441, metal ion binding, 3'(2'),5'-bisphosphate nucleotidase activity, 3'(2'),5'-bisphosphate nucleotidase activity, GO:0050427, GO:0046855, GO:0046854, GO:0007399, GO:0006139, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, inositol phosphate dephosphorylation, phosphatidylinositol phosphorylation, nervous system development, nucleobase-containing compound metabolic process, 15 7 15 54 22 47 25 13 11 ENSG00000162814 chr1 217631324 217871696 + SPATA17 protein_coding 128153 GO:0005737, cytoplasm, GO:0005516, GO:0005516, GO:0005515, calmodulin binding, calmodulin binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000162817 chr1 220689845 220699157 + C1orf115 protein_coding 79762 GO:0097731, GO:0016021, 9+0 non-motile cilium, integral component of membrane, 0 9 1 0 0 0 1 0 0 ENSG00000162819 chr1 222712553 222735196 + BROX protein_coding 148362 GO:0070062, GO:0016020, extracellular exosome, membrane, GO:0005515, protein binding, 841 889 1251 399 705 560 373 527 489 ENSG00000162825 chr1 145289900 145405778 - NBPF20 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014]. 100288142 GO:0005737, cytoplasm, 39 18 48 27 23 54 34 19 49 ENSG00000162836 chr1 147629652 147670496 - ACP6 protein_coding This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]. 51205 GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0052642, GO:0052642, GO:0052642, GO:0016791, GO:0003993, lysophosphatidic acid phosphatase activity, lysophosphatidic acid phosphatase activity, lysophosphatidic acid phosphatase activity, phosphatase activity, acid phosphatase activity, GO:2001311, GO:2001311, GO:0016311, GO:0006654, GO:0006644, GO:0002244, lysobisphosphatidic acid metabolic process, lysobisphosphatidic acid metabolic process, dephosphorylation, phosphatidic acid biosynthetic process, phospholipid metabolic process, hematopoietic progenitor cell differentiation, 169 341 255 730 573 1038 1187 882 1015 ENSG00000162840 chr4 68376323 68376505 + MT2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000162843 chr1 241652278 241802133 + WDR64 protein_coding 128025 1 0 0 3 4 5 0 0 0 ENSG00000162849 chr1 245154985 245709431 + KIF26B protein_coding The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers. [provided by RefSeq, Mar 2017]. 55083 GO:0005874, GO:0005871, GO:0005737, microtubule, kinesin complex, cytoplasm, GO:0016887, GO:0008017, GO:0005524, GO:0003777, ATPase activity, microtubule binding, ATP binding, microtubule motor activity, GO:0072092, GO:0030010, GO:0022409, GO:0007018, ureteric bud invasion, establishment of cell polarity, positive regulation of cell-cell adhesion, microtubule-based movement, 0 0 0 2 0 0 0 0 0 ENSG00000162851 chr1 246540560 246566324 - TFB2M protein_coding 64216 GO:0042645, GO:0005759, GO:0005759, GO:0005759, GO:0005739, mitochondrial nucleoid, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0034246, GO:0034246, GO:0003723, GO:0003712, GO:0000179, mitochondrial transcription factor activity, mitochondrial transcription factor activity, RNA binding, transcription coregulator activity, rRNA (adenine-N6,N6-)-dimethyltransferase activity, GO:0031167, GO:0007005, GO:0006391, GO:0006391, GO:0006391, GO:0006390, GO:0006355, rRNA methylation, mitochondrion organization, transcription initiation from mitochondrial promoter, transcription initiation from mitochondrial promoter, transcription initiation from mitochondrial promoter, mitochondrial transcription, regulation of transcription, DNA-templated, 6 0 19 22 11 10 13 11 22 ENSG00000162852 chr1 246566444 246668584 + CNST protein_coding Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]. 163882 GO:0043231, GO:0032991, GO:0030133, GO:0030133, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005802, GO:0005802, intracellular membrane-bounded organelle, protein-containing complex, transport vesicle, transport vesicle, integral component of membrane, membrane, plasma membrane, plasma membrane, trans-Golgi network, trans-Golgi network, GO:0071253, GO:0071253, GO:0019902, GO:0005515, connexin binding, connexin binding, phosphatase binding, protein binding, GO:0042998, GO:0042998, GO:0010923, positive regulation of Golgi to plasma membrane protein transport, positive regulation of Golgi to plasma membrane protein transport, negative regulation of phosphatase activity, 232 195 252 227 233 243 185 143 161 ENSG00000162869 chr2 48440598 48515391 + PPP1R21 protein_coding 129285 GO:0016020, GO:0005769, membrane, early endosome, 573 503 501 435 576 578 417 409 405 ENSG00000162873 chr1 205336065 205357090 - KLHDC8A protein_coding This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 55220 GO:0005515, protein binding, 0 1 0 0 0 0 1 2 0 ENSG00000162877 chr1 205828022 205850132 - PM20D1 protein_coding 148811 GO:0070062, extracellular exosome, GO:0046872, GO:0016829, GO:0016811, GO:0008233, GO:0004046, metal ion binding, lyase activity, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides, peptidase activity, aminoacylase activity, GO:2000275, GO:1990845, GO:1901215, GO:0097009, GO:0044255, GO:0044255, GO:0043605, GO:0043605, GO:0043604, GO:0043604, GO:0006807, GO:0006631, GO:0006520, GO:0006520, GO:0006508, regulation of oxidative phosphorylation uncoupler activity, adaptive thermogenesis, negative regulation of neuron death, energy homeostasis, cellular lipid metabolic process, cellular lipid metabolic process, cellular amide catabolic process, cellular amide catabolic process, amide biosynthetic process, amide biosynthetic process, nitrogen compound metabolic process, fatty acid metabolic process, cellular amino acid metabolic process, cellular amino acid metabolic process, proteolysis, 0 0 2 0 0 2 0 0 3 ENSG00000162878 chr2 42048020 42058528 + PKDCC protein_coding 91461 GO:0005794, GO:0005576, Golgi apparatus, extracellular region, GO:0005524, GO:0004715, GO:0004672, ATP binding, non-membrane spanning protein tyrosine kinase activity, protein kinase activity, GO:0060021, GO:0048566, GO:0048286, GO:0042997, GO:0035264, GO:0035108, GO:0032332, GO:0030501, GO:0030282, GO:0030154, GO:0018108, GO:0015031, GO:0001501, roof of mouth development, embryonic digestive tract development, lung alveolus development, negative regulation of Golgi to plasma membrane protein transport, multicellular organism growth, limb morphogenesis, positive regulation of chondrocyte differentiation, positive regulation of bone mineralization, bone mineralization, cell differentiation, peptidyl-tyrosine phosphorylation, protein transport, skeletal system development, 0 0 0 2 0 4 3 0 0 ENSG00000162881 chr2 42762481 42764261 - OXER1 protein_coding 165140 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0050648, GO:0050647, GO:0050646, GO:0005515, GO:0004930, 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding, 5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding, 5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding, protein binding, G protein-coupled receptor activity, GO:0007193, GO:0007186, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 169 148 274 36 82 45 51 99 55 ENSG00000162882 chr2 42767089 42792593 - HAAO protein_coding 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]. 23498 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0009055, GO:0008198, GO:0005515, GO:0000334, GO:0000334, electron transfer activity, ferrous iron binding, protein binding, 3-hydroxyanthranilate 3,4-dioxygenase activity, 3-hydroxyanthranilate 3,4-dioxygenase activity, GO:0070050, GO:0046874, GO:0046686, GO:0043420, GO:0034354, GO:0022900, GO:0019805, GO:0019805, GO:0010043, GO:0009435, GO:0006569, neuron cellular homeostasis, quinolinate metabolic process, response to cadmium ion, anthranilate metabolic process, 'de novo' NAD biosynthetic process from tryptophan, electron transport chain, quinolinate biosynthetic process, quinolinate biosynthetic process, response to zinc ion, NAD biosynthetic process, tryptophan catabolic process, 24 26 25 5 20 17 11 24 16 ENSG00000162885 chr1 235449923 235504481 - B3GALNT2 protein_coding This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]. 148789 GO:0016021, GO:0005789, GO:0005783, GO:0000139, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0008376, GO:0008376, GO:0005515, acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, protein binding, GO:0006493, GO:0006493, GO:0006486, protein O-linked glycosylation, protein O-linked glycosylation, protein glycosylation, 21 19 25 28 25 28 28 15 22 ENSG00000162888 chr1 206491116 206497728 - C1orf147 antisense 11 0 11 22 12 12 13 7 17 ENSG00000162889 chr1 206684944 206734283 + MAPKAPK2 protein_coding This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9261 GO:0070062, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, cytosol, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0051019, GO:0009931, GO:0005524, GO:0005516, GO:0005515, GO:0004683, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, mitogen-activated protein kinase binding, calcium-dependent protein serine/threonine kinase activity, ATP binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1900034, GO:0070935, GO:0048839, GO:0048010, GO:0048010, GO:0048010, GO:0046777, GO:0044351, GO:0043488, GO:0038066, GO:0035924, GO:0035924, GO:0035556, GO:0034097, GO:0034097, GO:0032680, GO:0032675, GO:0032496, GO:0018105, GO:0018105, GO:0006974, GO:0006954, GO:0006954, GO:0006691, GO:0006468, GO:0002224, GO:0002224, GO:0000187, GO:0000165, regulation of cellular response to heat, 3'-UTR-mediated mRNA stabilization, inner ear development, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, macropinocytosis, regulation of mRNA stability, p38MAPK cascade, cellular response to vascular endothelial growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, intracellular signal transduction, response to cytokine, response to cytokine, regulation of tumor necrosis factor production, regulation of interleukin-6 production, response to lipopolysaccharide, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, cellular response to DNA damage stimulus, inflammatory response, inflammatory response, leukotriene metabolic process, protein phosphorylation, toll-like receptor signaling pathway, toll-like receptor signaling pathway, activation of MAPK activity, MAPK cascade, 6739 5257 10093 5387 4575 8222 5822 3668 6097 ENSG00000162891 chr1 206865354 206869223 + IL20 protein_coding The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]. 50604 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0045518, GO:0045517, GO:0005125, interleukin-22 receptor binding, interleukin-20 receptor binding, cytokine activity, GO:0050727, GO:0045672, GO:0045618, GO:0045606, GO:0042531, GO:0019221, regulation of inflammatory response, positive regulation of osteoclast differentiation, positive regulation of keratinocyte differentiation, positive regulation of epidermal cell differentiation, positive regulation of tyrosine phosphorylation of STAT protein, cytokine-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000162892 chr1 206897443 206904139 + IL24 protein_coding This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 11009 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0071353, GO:0071222, GO:0042531, GO:0042501, GO:0042060, GO:0030336, GO:0019221, GO:0008285, GO:0008284, GO:0006915, cellular response to interleukin-4, cellular response to lipopolysaccharide, positive regulation of tyrosine phosphorylation of STAT protein, serine phosphorylation of STAT protein, wound healing, negative regulation of cell migration, cytokine-mediated signaling pathway, negative regulation of cell population proliferation, positive regulation of cell population proliferation, apoptotic process, 70 40 39 88 52 104 96 42 46 ENSG00000162894 chr1 206904386 206923247 - FCMR protein_coding Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]. 9214 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0004888, transmembrane signaling receptor activity, GO:0043066, GO:0006968, GO:0002376, negative regulation of apoptotic process, cellular defense response, immune system process, 411 261 415 535 332 496 468 235 396 ENSG00000162896 chr1 206928518 206946466 - PIGR protein_coding This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009]. 5284 GO:0071751, GO:0070062, GO:0043235, GO:0035577, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005615, GO:0005615, secretory IgA immunoglobulin complex, extracellular exosome, receptor complex, azurophil granule membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, extracellular space, extracellular space, GO:0004888, GO:0001792, transmembrane signaling receptor activity, polymeric immunoglobulin receptor activity, GO:0043312, GO:0043113, GO:0038093, GO:0007173, GO:0002415, GO:0002415, GO:0001895, GO:0001580, neutrophil degranulation, receptor clustering, Fc receptor signaling pathway, epidermal growth factor receptor signaling pathway, immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor, immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor, retina homeostasis, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000162897 chr1 206957965 206970625 - FCAMR protein_coding 83953 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004888, transmembrane signaling receptor activity, GO:0050900, GO:0002250, leukocyte migration, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000162909 chr1 223701593 223776018 + CAPN2 protein_coding The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 824 GO:0097038, GO:0070062, GO:0045121, GO:0045121, GO:0043025, GO:0031143, GO:0030864, GO:0030425, GO:0009897, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005783, GO:0005764, GO:0005758, GO:0005737, GO:0005737, GO:0005634, GO:0000785, perinuclear endoplasmic reticulum, extracellular exosome, membrane raft, membrane raft, neuronal cell body, pseudopodium, cortical actin cytoskeleton, dendrite, external side of plasma membrane, focal adhesion, plasma membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum, lysosome, mitochondrial intermembrane space, cytoplasm, cytoplasm, nucleus, chromatin, GO:0044877, GO:0019899, GO:0008234, GO:0008092, GO:0005515, GO:0005509, GO:0004198, GO:0004198, protein-containing complex binding, enzyme binding, cysteine-type peptidase activity, cytoskeletal protein binding, protein binding, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, calcium-dependent cysteine-type endopeptidase activity, GO:2001247, GO:1901741, GO:1901216, GO:0071230, GO:0071222, GO:0051603, GO:0051493, GO:0048266, GO:0042542, GO:0035458, GO:0032675, GO:0022617, GO:0010666, GO:0007565, GO:0007520, GO:0006508, GO:0006508, GO:0001824, GO:0001666, positive regulation of phosphatidylcholine biosynthetic process, positive regulation of myoblast fusion, positive regulation of neuron death, cellular response to amino acid stimulus, cellular response to lipopolysaccharide, proteolysis involved in cellular protein catabolic process, regulation of cytoskeleton organization, behavioral response to pain, response to hydrogen peroxide, cellular response to interferon-beta, regulation of interleukin-6 production, extracellular matrix disassembly, positive regulation of cardiac muscle cell apoptotic process, female pregnancy, myoblast fusion, proteolysis, proteolysis, blastocyst development, response to hypoxia, 126 132 318 565 216 809 420 210 556 ENSG00000162910 chr1 228106679 228109312 - MRPL55 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]. 128308 GO:0005762, GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003735, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0006412, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, translation, 81 68 84 46 70 68 88 70 71 ENSG00000162913 chr1 228203506 228213664 - OBSCN-AS1 antisense 574407 1 3 2 6 0 16 5 0 10 ENSG00000162923 chr1 224385143 224437033 - WDR26 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 80232 GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0000151, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0005515, protein binding, 6851 7336 8926 4283 6353 7369 5644 4983 6233 ENSG00000162924 chr2 60881521 60931610 + REL protein_coding This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]. 5966 GO:0005829, GO:0005667, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytosol, transcription regulator complex, nucleoplasm, nucleus, chromatin, chromatin, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901215, GO:0045944, GO:0045087, GO:0043123, GO:0038061, GO:0034097, GO:0033554, GO:0032688, GO:0010629, GO:0007249, GO:0006954, GO:0006357, negative regulation of neuron death, positive regulation of transcription by RNA polymerase II, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, NIK/NF-kappaB signaling, response to cytokine, cellular response to stress, negative regulation of interferon-beta production, negative regulation of gene expression, I-kappaB kinase/NF-kappaB signaling, inflammatory response, regulation of transcription by RNA polymerase II, 2775 2209 6075 1278 1030 2268 1797 910 1852 ENSG00000162927 chr2 60940222 61018259 - PUS10 protein_coding Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]. 150962 GO:0005739, GO:0005737, GO:0005634, mitochondrion, cytoplasm, nucleus, GO:0106029, GO:0070878, GO:0046872, GO:0009982, GO:0005515, tRNA pseudouridine synthase activity, primary miRNA binding, metal ion binding, pseudouridine synthase activity, protein binding, GO:0031119, GO:0031119, GO:0031053, tRNA pseudouridine synthesis, tRNA pseudouridine synthesis, primary miRNA processing, 124 150 223 105 110 106 88 57 77 ENSG00000162928 chr2 61017225 61051990 + PEX13 protein_coding This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]. 5194 GO:1990429, GO:0043231, GO:0016020, GO:0005779, GO:0005778, GO:0005778, GO:0005778, GO:0005778, GO:0005777, peroxisomal importomer complex, intracellular membrane-bounded organelle, membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0005515, protein binding, GO:0060152, GO:0021795, GO:0016567, GO:0016560, GO:0016560, GO:0016560, GO:0007626, GO:0006625, GO:0001967, GO:0001764, GO:0001561, microtubule-based peroxisome localization, cerebral cortex cell migration, protein ubiquitination, protein import into peroxisome matrix, docking, protein import into peroxisome matrix, docking, protein import into peroxisome matrix, docking, locomotory behavior, protein targeting to peroxisome, suckling behavior, neuron migration, fatty acid alpha-oxidation, 40 55 70 53 54 50 59 41 36 ENSG00000162929 chr2 61065871 61138034 + KIAA1841 protein_coding 84542 51 28 57 22 77 50 65 46 50 ENSG00000162931 chr1 228407940 228416861 - TRIM17 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 51127 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0061630, GO:0030674, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, protein-macromolecule adaptor activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0051865, GO:0045087, GO:0032880, GO:0016567, GO:0010468, GO:0006914, protein autoubiquitination, innate immune response, regulation of protein localization, protein ubiquitination, regulation of gene expression, autophagy, 5 2 4 12 5 6 2 3 7 ENSG00000162944 chr2 197568224 197676045 - RFTN2 protein_coding 130132 GO:0005886, plasma membrane, GO:0005515, protein binding, GO:0043330, GO:0033227, response to exogenous dsRNA, dsRNA transport, 3 4 9 9 9 16 7 3 13 ENSG00000162946 chr1 231626815 232041272 + DISC1 protein_coding This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 27185 GO:0097546, GO:0090724, GO:0048471, GO:0045111, GO:0045111, GO:0044297, GO:0036064, GO:0030286, GO:0014069, GO:0008021, GO:0005874, GO:0005871, GO:0005829, GO:0005813, GO:0005813, GO:0005783, GO:0005739, GO:0005739, GO:0005634, ciliary base, central region of growth cone, perinuclear region of cytoplasm, intermediate filament cytoskeleton, intermediate filament cytoskeleton, cell body, ciliary basal body, dynein complex, postsynaptic density, synaptic vesicle, microtubule, kinesin complex, cytosol, centrosome, centrosome, endoplasmic reticulum, mitochondrion, mitochondrion, nucleus, GO:0060090, GO:0044877, GO:0019894, GO:0005515, molecular adaptor activity, protein-containing complex binding, kinesin binding, protein binding, GO:2000060, GO:1905515, GO:0090128, GO:0071539, GO:0060998, GO:0060271, GO:0060070, GO:0051966, GO:0051602, GO:0051560, GO:0045773, GO:0032091, GO:0031929, GO:0030177, GO:0021852, GO:0021846, GO:0010975, GO:0002052, GO:0001954, GO:0001764, GO:0001764, GO:0000226, positive regulation of ubiquitin-dependent protein catabolic process, non-motile cilium assembly, regulation of synapse maturation, protein localization to centrosome, regulation of dendritic spine development, cilium assembly, canonical Wnt signaling pathway, regulation of synaptic transmission, glutamatergic, response to electrical stimulus, mitochondrial calcium ion homeostasis, positive regulation of axon extension, negative regulation of protein binding, TOR signaling, positive regulation of Wnt signaling pathway, pyramidal neuron migration, cell proliferation in forebrain, regulation of neuron projection development, positive regulation of neuroblast proliferation, positive regulation of cell-matrix adhesion, neuron migration, neuron migration, microtubule cytoskeleton organization, 130 153 242 122 198 221 178 125 196 ENSG00000162947 chr2 149767506 149859191 - LINC01931 lincRNA 150596 0 0 0 0 0 0 0 0 0 ENSG00000162949 chr2 30722771 30820542 - CAPN13 protein_coding The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]. 92291 GO:0005737, cytoplasm, GO:0005509, GO:0004198, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, GO:0043066, GO:0006508, negative regulation of apoptotic process, proteolysis, 3 5 4 5 9 13 1 10 0 ENSG00000162951 chr2 80288351 80304749 - LRRTM1 protein_coding 347730 GO:0099060, GO:0099060, GO:0098982, GO:0098982, GO:0098978, GO:0060076, GO:0031012, GO:0030426, GO:0030424, GO:0009986, GO:0005783, GO:0005615, integral component of postsynaptic specialization membrane, integral component of postsynaptic specialization membrane, GABA-ergic synapse, GABA-ergic synapse, glutamatergic synapse, excitatory synapse, extracellular matrix, growth cone, axon, cell surface, endoplasmic reticulum, extracellular space, GO:0003674, molecular_function, GO:1905606, GO:0099151, GO:0060291, GO:0051965, GO:0050808, GO:0035640, GO:0035418, GO:0008150, GO:0007626, GO:0002091, regulation of presynapse assembly, regulation of postsynaptic density assembly, long-term synaptic potentiation, positive regulation of synapse assembly, synapse organization, exploration behavior, protein localization to synapse, biological_process, locomotory behavior, negative regulation of receptor internalization, 0 0 0 0 0 0 0 0 0 ENSG00000162959 chr2 31865060 32011230 - MEMO1 protein_coding 51072 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0005515, protein binding, GO:2000145, GO:0032886, regulation of cell motility, regulation of microtubule-based process, 15 24 21 20 22 15 15 14 13 ENSG00000162961 chr2 31867809 32039812 - DPY30 protein_coding This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016]. 84661 GO:0048188, GO:0048188, GO:0044666, GO:0035097, GO:0005802, GO:0005794, GO:0005654, GO:0005654, GO:0005634, GO:0000781, Set1C/COMPASS complex, Set1C/COMPASS complex, MLL3/4 complex, histone methyltransferase complex, trans-Golgi network, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0042803, GO:0042802, GO:0005515, protein homodimerization activity, identical protein binding, protein binding, GO:0051568, GO:0051568, GO:0045652, GO:0016197, GO:0006348, histone H3-K4 methylation, histone H3-K4 methylation, regulation of megakaryocyte differentiation, endosomal transport, chromatin silencing at telomere, 70 52 73 49 77 85 55 73 48 ENSG00000162971 chr2 199929975 199955736 - TYW5 protein_coding 129450 GO:0005737, cytoplasm, GO:0102524, GO:0042803, GO:0016706, GO:0016706, GO:0005506, GO:0000049, GO:0000049, tRNAPhe (7-(3-amino-3-carboxypropyl)wyosine37-C2)-hydroxylase activity, protein homodimerization activity, 2-oxoglutarate-dependent dioxygenase activity, 2-oxoglutarate-dependent dioxygenase activity, iron ion binding, tRNA binding, tRNA binding, GO:0055114, GO:0031591, GO:0031591, GO:0006400, oxidation-reduction process, wybutosine biosynthetic process, wybutosine biosynthetic process, tRNA modification, 26 33 53 47 29 36 34 30 47 ENSG00000162972 chr2 199955317 200008540 + MAIP1 protein_coding 79568 GO:0005759, GO:0005743, GO:0005743, mitochondrial matrix, mitochondrial inner membrane, mitochondrial inner membrane, GO:0043022, GO:0005515, ribosome binding, protein binding, GO:0051560, GO:0051204, GO:0036444, GO:0032979, GO:0007007, GO:0006851, mitochondrial calcium ion homeostasis, protein insertion into mitochondrial membrane, calcium import into the mitochondrion, protein insertion into mitochondrial inner membrane from matrix, inner mitochondrial membrane organization, mitochondrial calcium ion transmembrane transport, 11 4 15 21 3 14 11 13 12 ENSG00000162975 chr2 10911937 10914225 + KCNF1 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008]. 3754 GO:0016021, GO:0008076, GO:0005886, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, GO:0005515, GO:0005267, GO:0005249, protein binding, potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0051260, GO:0034765, GO:0006813, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000162976 chr2 11155198 11178874 + PQLC3 protein_coding 130814 GO:0016021, integral component of membrane, 45 29 49 59 41 86 53 27 63 ENSG00000162980 chr2 151788984 151828492 - ARL5A protein_coding The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]. 26225 GO:0005802, GO:0005737, trans-Golgi network, cytoplasm, GO:0005525, GTP binding, GO:1903292, GO:1903292, GO:0016192, GO:0006886, protein localization to Golgi membrane, protein localization to Golgi membrane, vesicle-mediated transport, intracellular protein transport, 56 53 88 64 52 90 62 66 67 ENSG00000162981 chr2 14632686 14650814 + FAM84A protein_coding 151354 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0048870, GO:0000902, cell motility, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000162989 chr2 154698299 154858352 + KCNJ3 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]. 3760 GO:0099056, GO:0098688, GO:0030315, GO:0009897, GO:0008076, GO:0005886, GO:0005886, integral component of presynaptic membrane, parallel fiber to Purkinje cell synapse, T-tubule, external side of plasma membrane, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:1902282, GO:0086089, GO:0015467, GO:0005515, GO:0005242, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization, G-protein activated inward rectifier potassium channel activity, protein binding, inward rectifier potassium channel activity, GO:1990573, GO:1990573, GO:0099625, GO:0098915, GO:0098914, GO:0086091, GO:0051602, GO:0034765, GO:0006813, potassium ion import across plasma membrane, potassium ion import across plasma membrane, ventricular cardiac muscle cell membrane repolarization, membrane repolarization during ventricular cardiac muscle cell action potential, membrane repolarization during atrial cardiac muscle cell action potential, regulation of heart rate by cardiac conduction, response to electrical stimulus, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000162992 chr2 181673088 181680876 - NEUROD1 protein_coding This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]. 4760 GO:0090575, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0070888, GO:0046982, GO:0046982, GO:0043565, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0001102, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, protein heterodimerization activity, protein heterodimerization activity, sequence-specific DNA binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000679, GO:2000675, GO:0071333, GO:0071156, GO:0060730, GO:0051091, GO:0050796, GO:0048839, GO:0048666, GO:0048562, GO:0046426, GO:0045944, GO:0045893, GO:0045666, GO:0045597, GO:0043065, GO:0042593, GO:0042493, GO:0035883, GO:0035881, GO:0031018, GO:0031018, GO:0030182, GO:0030073, GO:0023019, GO:0022008, GO:0021549, GO:0021542, GO:0009952, GO:0009749, GO:0007263, GO:0006913, GO:0006357, GO:0003329, GO:0003326, positive regulation of transcription regulatory region DNA binding, negative regulation of type B pancreatic cell apoptotic process, cellular response to glucose stimulus, regulation of cell cycle arrest, regulation of intestinal epithelial structure maintenance, positive regulation of DNA-binding transcription factor activity, regulation of insulin secretion, inner ear development, neuron development, embryonic organ morphogenesis, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of neuron differentiation, positive regulation of cell differentiation, positive regulation of apoptotic process, glucose homeostasis, response to drug, enteroendocrine cell differentiation, amacrine cell differentiation, endocrine pancreas development, endocrine pancreas development, neuron differentiation, insulin secretion, signal transduction involved in regulation of gene expression, neurogenesis, cerebellum development, dentate gyrus development, anterior/posterior pattern specification, response to glucose, nitric oxide mediated signal transduction, nucleocytoplasmic transport, regulation of transcription by RNA polymerase II, pancreatic PP cell fate commitment, pancreatic A cell fate commitment, 0 0 0 0 0 0 0 0 0 ENSG00000162994 chr2 55174791 55232563 - CLHC1 protein_coding 130162 GO:0005515, protein binding, 13 18 22 26 32 38 14 36 41 ENSG00000162997 chr2 55282319 55284522 + PRORSD1P transcribed_unitary_pseudogene 344405 GO:0002161, aminoacyl-tRNA editing activity, GO:0106074, aminoacyl-tRNA metabolism involved in translational fidelity, 14 13 13 23 12 26 13 14 17 ENSG00000162998 chr2 182833275 182867162 - FRZB protein_coding The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]. 2487 GO:0016020, GO:0005737, GO:0005615, GO:0005615, GO:0005615, membrane, cytoplasm, extracellular space, extracellular space, extracellular space, GO:0017147, GO:0017147, GO:0017147, GO:0005515, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, protein binding, GO:0090103, GO:0090090, GO:0090090, GO:0070367, GO:0061053, GO:0061037, GO:0060070, GO:0060029, GO:0045600, GO:0043065, GO:0035567, GO:0030308, GO:0030178, GO:0030178, GO:0030178, GO:0014033, GO:0010721, GO:0008285, GO:0001501, cochlea morphogenesis, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of hepatocyte differentiation, somite development, negative regulation of cartilage development, canonical Wnt signaling pathway, convergent extension involved in organogenesis, positive regulation of fat cell differentiation, positive regulation of apoptotic process, non-canonical Wnt signaling pathway, negative regulation of cell growth, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, neural crest cell differentiation, negative regulation of cell development, negative regulation of cell population proliferation, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000162999 chr2 183078559 183100005 + DUSP19 protein_coding Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP19 contains a variation of the consensus DUSP C-terminal catalytic domain, with the last serine residue replaced by alanine, and lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]. 142679 GO:0005737, cytoplasm, GO:0106307, GO:0106306, GO:0031435, GO:0030295, GO:0008579, GO:0005515, GO:0005078, GO:0004860, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase kinase kinase binding, protein kinase activator activity, JUN kinase phosphatase activity, protein binding, MAP-kinase scaffold activity, protein kinase inhibitor activity, protein tyrosine phosphatase activity, GO:0046330, GO:0046329, GO:0045860, GO:0043508, GO:0043507, GO:0043410, GO:0043405, GO:0035335, GO:0032147, GO:0006469, positive regulation of JNK cascade, negative regulation of JNK cascade, positive regulation of protein kinase activity, negative regulation of JUN kinase activity, positive regulation of JUN kinase activity, positive regulation of MAPK cascade, regulation of MAP kinase activity, peptidyl-tyrosine dephosphorylation, activation of protein kinase activity, negative regulation of protein kinase activity, 0 0 1 2 4 4 4 0 6 ENSG00000163001 chr2 55519604 55545879 + CFAP36 protein_coding 112942 GO:0097546, GO:0035869, GO:0031514, GO:0005930, GO:0005634, ciliary base, ciliary transition zone, motile cilium, axoneme, nucleus, GO:0047485, GO:0005515, protein N-terminus binding, protein binding, GO:0008150, biological_process, 71 70 58 102 62 104 62 58 67 ENSG00000163002 chr2 183117513 183161680 + NUP35 protein_coding This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]. 129401 GO:0044615, GO:0044613, GO:0043657, GO:0031965, GO:0005886, GO:0005654, GO:0005652, GO:0005635, nuclear pore nuclear basket, nuclear pore central transport channel, host cell, nuclear membrane, plasma membrane, nucleoplasm, nuclear lamina, nuclear envelope, GO:0042802, GO:0017056, GO:0005543, GO:0005515, GO:0003697, identical protein binding, structural constituent of nuclear pore, phospholipid binding, protein binding, single-stranded DNA binding, GO:1990830, GO:1900034, GO:0075733, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006999, GO:0006607, GO:0006409, GO:0006406, GO:0006355, GO:0006110, cellular response to leukemia inhibitory factor, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, nuclear pore organization, NLS-bearing protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, regulation of transcription, DNA-templated, regulation of glycolytic process, 0 8 12 18 10 21 14 16 33 ENSG00000163006 chr2 108786757 108885477 + CCDC138 protein_coding 165055 5 1 18 8 3 22 10 5 15 ENSG00000163009 chr2 10141382 10211725 + C2orf48 lincRNA 0 0 0 0 0 3 2 0 0 ENSG00000163012 chr2 186827835 186849208 - ZSWIM2 protein_coding 151112 GO:0061630, GO:0043621, GO:0008270, ubiquitin protein ligase activity, protein self-association, zinc ion binding, GO:1902043, GO:0006915, GO:0000209, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, apoptotic process, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000163013 chr2 73254682 73284431 - FBXO41 protein_coding This gene encodes a member of the F-box protein family, which is characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class. [provided by RefSeq, Feb 2014]. 150726 GO:0005829, cytosol, GO:0043687, GO:0000209, post-translational protein modification, protein polyubiquitination, 21 17 43 63 23 55 71 19 54 ENSG00000163016 chr2 73644919 73685576 + ALMS1P1 transcribed_unprocessed_pseudogene 200420 0 3 1 0 0 0 0 0 0 ENSG00000163017 chr2 73892314 73919865 + ACTG2 protein_coding Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]. 72 GO:0072562, GO:0071944, GO:0070062, GO:0044297, GO:0032982, GO:0030175, GO:0030027, GO:0005869, GO:0005829, GO:0005737, GO:0005615, blood microparticle, cell periphery, extracellular exosome, cell body, myosin filament, filopodium, lamellipodium, dynactin complex, cytosol, cytoplasm, extracellular space, GO:0005524, ATP binding, GO:0090131, GO:0010628, GO:0006936, mesenchyme migration, positive regulation of gene expression, muscle contraction, 0 1 0 0 0 0 0 0 0 ENSG00000163026 chr2 24029340 24049575 - WDCP protein_coding 80304 GO:0019900, GO:0019900, kinase binding, kinase binding, GO:0051259, protein complex oligomerization, 3 3 7 18 9 26 6 5 20 ENSG00000163029 chr2 17663812 17800242 - SMC6 protein_coding 79677 GO:0097431, GO:0035861, GO:0035061, GO:0030915, GO:0016607, GO:0016605, GO:0005654, GO:0005654, GO:0005634, GO:0000803, GO:0000781, GO:0000775, mitotic spindle pole, site of double-strand break, interchromatin granule, Smc5-Smc6 complex, nuclear speck, PML body, nucleoplasm, nucleoplasm, nucleus, sex chromosome, chromosome, telomeric region, chromosome, centromeric region, GO:0031625, GO:0005524, GO:0005515, ubiquitin protein ligase binding, ATP binding, protein binding, GO:0090398, GO:0051984, GO:0006974, GO:0006281, GO:0000722, cellular senescence, positive regulation of chromosome segregation, cellular response to DNA damage stimulus, DNA repair, telomere maintenance via recombination, 120 119 177 156 138 233 193 124 105 ENSG00000163032 chr2 17539126 17657018 + VSNL1 protein_coding This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 7447 GO:0016020, GO:0005829, membrane, cytosol, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0046676, GO:0045921, GO:0035774, negative regulation of insulin secretion, positive regulation of exocytosis, positive regulation of insulin secretion involved in cellular response to glucose stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000163040 chr2 131527675 131533666 + CCDC74A protein_coding 90557 GO:0005515, protein binding, 0 0 2 1 0 0 0 0 1 ENSG00000163041 chr1 226061851 226072001 + H3F3A protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008]. 3020 GO:0070062, GO:0032991, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, GO:0001740, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, Barr body, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0031492, GO:0005515, GO:0000979, GO:0000978, protein heterodimerization activity, nucleosomal DNA binding, protein binding, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902340, GO:0090230, GO:0060964, GO:0048477, GO:0045814, GO:0045652, GO:0044267, GO:0042692, GO:0035264, GO:0032200, GO:0031509, GO:0031508, GO:0030307, GO:0009725, GO:0008584, GO:0008283, GO:0007596, GO:0007566, GO:0007420, GO:0007338, GO:0007286, GO:0006997, GO:0006336, GO:0006334, GO:0006334, GO:0001649, GO:0000183, negative regulation of chromosome condensation, regulation of centromere complex assembly, regulation of gene silencing by miRNA, oogenesis, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, muscle cell differentiation, multicellular organism growth, telomere organization, subtelomeric heterochromatin assembly, pericentric heterochromatin assembly, positive regulation of cell growth, response to hormone, male gonad development, cell population proliferation, blood coagulation, embryo implantation, brain development, single fertilization, spermatid development, nucleus organization, DNA replication-independent nucleosome assembly, nucleosome assembly, nucleosome assembly, osteoblast differentiation, rDNA heterochromatin assembly, 21923 19621 22512 6347 12813 9088 9455 13395 9411 ENSG00000163046 chr2 132147591 132257969 - ANKRD30BL protein_coding 554226 0 0 0 0 0 0 0 0 0 ENSG00000163050 chr1 226897536 226987545 + COQ8A protein_coding This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 56997 GO:0031314, GO:0016021, GO:0005739, extrinsic component of mitochondrial inner membrane, integral component of membrane, mitochondrion, GO:0043531, GO:0016301, GO:0016301, GO:0005524, GO:0005515, GO:0004672, ADP binding, kinase activity, kinase activity, ATP binding, protein binding, protein kinase activity, GO:0016310, GO:0006744, GO:0006744, GO:0006744, GO:0006468, phosphorylation, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, protein phosphorylation, 391 473 487 325 571 384 398 396 387 ENSG00000163053 chr2 230034974 230068999 - SLC16A14 protein_coding 151473 GO:0016021, GO:0005887, integral component of membrane, integral component of plasma membrane, GO:0015293, GO:0008028, symporter activity, monocarboxylic acid transmembrane transporter activity, GO:0055085, GO:0015718, transmembrane transport, monocarboxylic acid transport, 13 20 38 0 0 0 0 1 1 ENSG00000163060 chr2 94871433 94876829 + TEKT4 protein_coding 150483 GO:0036126, GO:0015630, GO:0005634, sperm flagellum, microtubule cytoskeleton, nucleus, GO:0005515, protein binding, GO:0060294, GO:0060271, cilium movement involved in cell motility, cilium assembly, 0 0 0 0 0 0 0 0 0 ENSG00000163064 chr2 118842171 118847678 - EN1 protein_coding Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]. 2019 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990403, GO:0071542, GO:0061743, GO:0048666, GO:0045944, GO:0043524, GO:0043473, GO:0042756, GO:0035264, GO:0035176, GO:0035115, GO:0030917, GO:0030901, GO:0030182, GO:0021549, GO:0009954, GO:0009953, GO:0009653, GO:0008344, GO:0006357, GO:0001501, GO:0000122, embryonic brain development, dopaminergic neuron differentiation, motor learning, neuron development, positive regulation of transcription by RNA polymerase II, negative regulation of neuron apoptotic process, pigmentation, drinking behavior, multicellular organism growth, social behavior, embryonic forelimb morphogenesis, midbrain-hindbrain boundary development, midbrain development, neuron differentiation, cerebellum development, proximal/distal pattern formation, dorsal/ventral pattern formation, anatomical structure morphogenesis, adult locomotory behavior, regulation of transcription by RNA polymerase II, skeletal system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000163069 chr4 52020706 52038482 - SGCB protein_coding This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]. 6443 GO:0042383, GO:0016012, GO:0016010, GO:0005887, GO:0005856, GO:0005737, sarcolemma, sarcoglycan complex, dystrophin-associated glycoprotein complex, integral component of plasma membrane, cytoskeleton, cytoplasm, GO:0005515, protein binding, GO:0097084, GO:0055013, GO:0048747, GO:0007517, vascular associated smooth muscle cell development, cardiac muscle cell development, muscle fiber development, muscle organ development, 8 4 14 13 1 21 10 3 4 ENSG00000163071 chr4 52051331 52097292 + SPATA18 protein_coding This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 132671 GO:0043231, GO:0005741, GO:0005741, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0035695, GO:0035695, GO:0035694, GO:0035694, GO:0006974, mitophagy by induced vacuole formation, mitophagy by induced vacuole formation, mitochondrial protein catabolic process, mitochondrial protein catabolic process, cellular response to DNA damage stimulus, 0 0 0 2 0 0 0 0 0 ENSG00000163072 chr2 168786539 168865514 + NOSTRIN protein_coding Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]. 115677 GO:0030666, GO:0005886, GO:0005856, GO:0005634, endocytic vesicle membrane, plasma membrane, cytoskeleton, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0050999, GO:0045892, GO:0007165, GO:0006897, regulation of nitric-oxide synthase activity, negative regulation of transcription, DNA-templated, signal transduction, endocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000163075 chr2 119544432 119662251 + CFAP221 protein_coding 200373 GO:0005930, GO:0005929, axoneme, cilium, GO:0005516, calmodulin binding, GO:0060271, GO:0044458, GO:0003341, cilium assembly, motile cilium assembly, cilium movement, 0 0 0 0 0 0 0 0 0 ENSG00000163081 chr2 222298147 222305217 + CCDC140 protein_coding This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011]. 151278 0 0 0 0 0 0 0 0 0 ENSG00000163082 chr2 222424517 222560948 + SGPP2 protein_coding The protein encoded by this gene is a transmembrane protein that degrades the bioactive signaling molecule sphingosine 1-phosphate. The encoded protein is induced during inflammatory responses and has been shown to be downregulated by the microRNA-31 tumor suppressor. Alternative splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]. 130367 GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042392, GO:0042392, GO:0042392, sphingosine-1-phosphate phosphatase activity, sphingosine-1-phosphate phosphatase activity, sphingosine-1-phosphate phosphatase activity, GO:0061469, GO:0046839, GO:0030148, GO:0006670, GO:0006670, regulation of type B pancreatic cell proliferation, phospholipid dephosphorylation, sphingolipid biosynthetic process, sphingosine metabolic process, sphingosine metabolic process, 5 1 15 20 6 22 18 2 7 ENSG00000163083 chr2 120346143 120351808 + INHBB protein_coding This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Polymorphisms near this gene are associated with pre-eclampsia in female human patients. [provided by RefSeq, Aug 2016]. 3625 GO:0071944, GO:0048471, GO:0005615, GO:0005576, cell periphery, perinuclear region of cytoplasm, extracellular space, extracellular region, GO:0046789, GO:0042803, GO:0008083, GO:0005515, GO:0005179, GO:0005125, GO:0005125, host cell surface receptor binding, protein homodimerization activity, growth factor activity, protein binding, hormone activity, cytokine activity, cytokine activity, GO:2001235, GO:0060395, GO:0060279, GO:0048599, GO:0046882, GO:0046881, GO:0046676, GO:0045444, GO:0044650, GO:0044320, GO:0032924, GO:0032869, GO:0032686, GO:0030154, GO:0010862, GO:0009611, GO:0009267, GO:0006952, GO:0001541, positive regulation of apoptotic signaling pathway, SMAD protein signal transduction, positive regulation of ovulation, oocyte development, negative regulation of follicle-stimulating hormone secretion, positive regulation of follicle-stimulating hormone secretion, negative regulation of insulin secretion, fat cell differentiation, adhesion of symbiont to host cell, cellular response to leptin stimulus, activin receptor signaling pathway, cellular response to insulin stimulus, negative regulation of hepatocyte growth factor production, cell differentiation, positive regulation of pathway-restricted SMAD protein phosphorylation, response to wounding, cellular response to starvation, defense response, ovarian follicle development, 7 1 13 14 7 3 0 4 3 ENSG00000163092 chr2 166888487 167259753 + XIRP2 protein_coding 129446 GO:0030018, GO:0005925, GO:0001725, Z disc, focal adhesion, stress fiber, GO:0051393, GO:0051015, alpha-actinin binding, actin filament binding, GO:0055008, GO:0045216, GO:0030036, GO:0008150, GO:0003281, cardiac muscle tissue morphogenesis, cell-cell junction organization, actin cytoskeleton organization, biological_process, ventricular septum development, 0 0 0 0 1 0 2 0 0 ENSG00000163093 chr2 169479178 169506655 + BBS5 protein_coding This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]. 129880 GO:0060170, GO:0036064, GO:0036064, GO:0034464, GO:0034464, GO:0005829, ciliary membrane, ciliary basal body, ciliary basal body, BBSome, BBSome, cytosol, GO:0032266, GO:0032266, GO:0005515, GO:0001103, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, protein binding, RNA polymerase II repressing transcription factor binding, GO:0060271, GO:0060271, GO:0050896, GO:0046907, GO:0044458, GO:0032402, GO:0015031, GO:0007601, GO:0001947, cilium assembly, cilium assembly, response to stimulus, intracellular transport, motile cilium assembly, melanosome transport, protein transport, visual perception, heart looping, 0 1 1 4 0 3 3 1 0 ENSG00000163098 chr19 53289601 53291626 - BIRC8 protein_coding 112401 GO:0005876, GO:0005737, GO:0005634, spindle microtubule, cytoplasm, nucleus, GO:0061630, GO:0046872, GO:0043027, ubiquitin protein ligase activity, metal ion binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, GO:1990001, GO:0090307, GO:0090263, GO:0043154, GO:0031398, GO:0016567, GO:0006915, inhibition of cysteine-type endopeptidase activity involved in apoptotic process, mitotic spindle assembly, positive regulation of canonical Wnt signaling pathway, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of protein ubiquitination, protein ubiquitination, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000163104 chr4 94207611 94291292 + SMARCAD1 protein_coding This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 56916 GO:0043596, GO:0035861, GO:0005654, GO:0005634, GO:0000792, nuclear replication fork, site of double-strand break, nucleoplasm, nucleus, heterochromatin, GO:0008094, GO:0005524, GO:0005515, GO:0003682, GO:0003678, GO:0003677, GO:0003677, DNA-dependent ATPase activity, ATP binding, protein binding, chromatin binding, DNA helicase activity, DNA binding, DNA binding, GO:0070933, GO:0070932, GO:0051304, GO:0043044, GO:0043044, GO:0032508, GO:0006338, GO:0000729, GO:0000018, histone H4 deacetylation, histone H3 deacetylation, chromosome separation, ATP-dependent chromatin remodeling, ATP-dependent chromatin remodeling, DNA duplex unwinding, chromatin remodeling, DNA double-strand break processing, regulation of DNA recombination, 20 26 37 93 33 92 65 35 49 ENSG00000163106 chr4 94298535 94342876 - HPGDS protein_coding Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008]. 27306 GO:0043231, GO:0005829, GO:0005829, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0042803, GO:0005515, GO:0005509, GO:0004667, GO:0004364, GO:0000287, protein homodimerization activity, protein binding, calcium ion binding, prostaglandin-D synthase activity, glutathione transferase activity, magnesium ion binding, GO:2000255, GO:1901687, GO:0019371, GO:0007626, GO:0007165, GO:0006749, GO:0006693, negative regulation of male germ cell proliferation, glutathione derivative biosynthetic process, cyclooxygenase pathway, locomotory behavior, signal transduction, glutathione metabolic process, prostaglandin metabolic process, 0 0 0 0 1 1 0 0 2 ENSG00000163110 chr4 94451857 94668227 + PDLIM5 protein_coding This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 10611 GO:0098793, GO:0042995, GO:0031941, GO:0030018, GO:0016020, GO:0015629, GO:0014069, GO:0005912, GO:0005912, GO:0005829, GO:0001725, presynapse, cell projection, filamentous actin, Z disc, membrane, actin cytoskeleton, postsynaptic density, adherens junction, adherens junction, cytosol, stress fiber, GO:0098641, GO:0051371, GO:0047485, GO:0046872, GO:0042805, GO:0005515, GO:0005080, GO:0003779, GO:0003779, cadherin binding involved in cell-cell adhesion, muscle alpha-actinin binding, protein N-terminus binding, metal ion binding, actinin binding, protein binding, protein kinase C binding, actin binding, actin binding, GO:0098609, GO:0061061, GO:0061049, GO:0061001, GO:0051963, GO:0030036, GO:0007507, cell-cell adhesion, muscle structure development, cell growth involved in cardiac muscle cell development, regulation of dendritic spine morphogenesis, regulation of synapse assembly, actin cytoskeleton organization, heart development, 399 315 332 182 255 265 263 202 213 ENSG00000163114 chr4 95840019 95841474 + PDHA2 protein_coding 5161 GO:0005967, GO:0005759, GO:0005739, GO:0005730, GO:0005634, mitochondrial pyruvate dehydrogenase complex, mitochondrial matrix, mitochondrion, nucleolus, nucleus, GO:0034604, GO:0005515, GO:0004739, GO:0004739, pyruvate dehydrogenase (NAD+) activity, protein binding, pyruvate dehydrogenase (acetyl-transferring) activity, pyruvate dehydrogenase (acetyl-transferring) activity, GO:0006099, GO:0006090, GO:0006090, GO:0006086, GO:0006006, tricarboxylic acid cycle, pyruvate metabolic process, pyruvate metabolic process, acetyl-CoA biosynthetic process from pyruvate, glucose metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000163116 chr4 97184093 98143240 - STPG2 protein_coding 285555 1 2 1 0 3 0 1 0 0 ENSG00000163121 chr2 96497643 96508109 - NEURL3 protein_coding 93082 GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0016567, protein ubiquitination, 0 0 0 0 2 4 4 4 4 ENSG00000163125 chr1 150363091 150476566 + RPRD2 protein_coding 23248 GO:0016591, GO:0016591, GO:0005654, RNA polymerase II, holoenzyme, RNA polymerase II, holoenzyme, nucleoplasm, GO:0000993, RNA polymerase II complex binding, GO:0042795, GO:0031124, snRNA transcription by RNA polymerase II, mRNA 3'-end processing, 235 328 239 217 280 239 288 201 271 ENSG00000163126 chr2 96824526 96857934 - ANKRD23 protein_coding This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]. 200539 GO:0030016, GO:0015629, GO:0014704, GO:0005829, GO:0005654, myofibril, actin cytoskeleton, intercalated disc, cytosol, nucleoplasm, GO:0031432, GO:0005515, titin binding, protein binding, GO:0009612, response to mechanical stimulus, 58 71 63 42 70 29 50 67 54 ENSG00000163131 chr1 150730196 150765957 - CTSS protein_coding The preproprotein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that participates in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The mature protein cleaves the invariant chain of MHC class II molecules in endolysosomal compartments and enables the formation of antigen-MHC class II complexes and the proper display of extracellular antigenic peptides by MHC-II. The mature protein also functions as an elastase over a broad pH range. When secreted from cells, this protein can remodel components of the extracellular matrix such as elastin, collagen, and fibronectin. This gene is implicated in the pathology of many inflammatory and autoimmune diseases and, given its elastase activity, plays a significant role in some pulmonary diseases. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2020]. 1520 GO:1904813, GO:1904724, GO:0062023, GO:0045335, GO:0043231, GO:0043202, GO:0036021, GO:0005770, GO:0005764, GO:0005764, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, collagen-containing extracellular matrix, phagocytic vesicle, intracellular membrane-bounded organelle, lysosomal lumen, endolysosome lumen, late endosome, lysosome, lysosome, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0043394, GO:0043236, GO:0005518, GO:0004197, GO:0004197, GO:0004197, GO:0001968, proteoglycan binding, laminin binding, collagen binding, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, fibronectin binding, GO:2001259, GO:0097067, GO:0051603, GO:0051603, GO:0048002, GO:0043312, GO:0034769, GO:0030574, GO:0022617, GO:0019886, GO:0019886, GO:0019882, GO:0016485, GO:0010447, GO:0006955, GO:0006508, GO:0002250, GO:0002224, positive regulation of cation channel activity, cellular response to thyroid hormone stimulus, proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, antigen processing and presentation of peptide antigen, neutrophil degranulation, basement membrane disassembly, collagen catabolic process, extracellular matrix disassembly, antigen processing and presentation of exogenous peptide antigen via MHC class II, antigen processing and presentation of exogenous peptide antigen via MHC class II, antigen processing and presentation, protein processing, response to acidic pH, immune response, proteolysis, adaptive immune response, toll-like receptor signaling pathway, 33303 33110 35405 4837 15269 7615 7895 16129 8205 ENSG00000163132 chr4 4859666 4863936 + MSX1 protein_coding This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]. 4487 GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0002039, GO:0001228, GO:0001227, GO:0000987, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, p53 binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001055, GO:2000678, GO:1902255, GO:0090427, GO:0071316, GO:0061312, GO:0061180, GO:0060536, GO:0060349, GO:0060325, GO:0060021, GO:0051154, GO:0050821, GO:0048863, GO:0048598, GO:0045944, GO:0043517, GO:0043066, GO:0042481, GO:0042475, GO:0042474, GO:0035880, GO:0035116, GO:0035115, GO:0034504, GO:0030901, GO:0030513, GO:0030308, GO:0023019, GO:0021983, GO:0010463, GO:0009952, GO:0008285, GO:0007517, GO:0006357, GO:0003198, GO:0001701, GO:0000902, GO:0000122, positive regulation of mesenchymal cell apoptotic process, negative regulation of transcription regulatory region DNA binding, positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator, activation of meiosis, cellular response to nicotine, BMP signaling pathway involved in heart development, mammary gland epithelium development, cartilage morphogenesis, bone morphogenesis, face morphogenesis, roof of mouth development, negative regulation of striated muscle cell differentiation, protein stabilization, stem cell differentiation, embryonic morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of apoptotic process, regulation of odontogenesis, odontogenesis of dentin-containing tooth, middle ear morphogenesis, embryonic nail plate morphogenesis, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, protein localization to nucleus, midbrain development, positive regulation of BMP signaling pathway, negative regulation of cell growth, signal transduction involved in regulation of gene expression, pituitary gland development, mesenchymal cell proliferation, anterior/posterior pattern specification, negative regulation of cell population proliferation, muscle organ development, regulation of transcription by RNA polymerase II, epithelial to mesenchymal transition involved in endocardial cushion formation, in utero embryonic development, cell morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 2 0 2 0 0 ENSG00000163138 chr4 20696282 20752907 + PACRGL protein_coding 133015 GO:0005515, protein binding, 5 8 17 11 7 27 22 7 14 ENSG00000163141 chr1 151036321 151047720 + BNIPL protein_coding The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 149428 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0042802, GO:0005515, GO:0004309, identical protein binding, protein binding, exopolyphosphatase activity, GO:0040009, GO:0008285, GO:0006915, GO:0006915, GO:0006798, regulation of growth rate, negative regulation of cell population proliferation, apoptotic process, apoptotic process, polyphosphate catabolic process, 11 28 13 28 38 57 19 31 44 ENSG00000163145 chr4 15339818 15446166 + C1QTNF7 protein_coding 114905 GO:0005581, GO:0005576, collagen trimer, extracellular region, 7 12 3 12 11 4 9 19 0 ENSG00000163154 chr1 151156629 151159749 + TNFAIP8L2 protein_coding 79626 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0050868, GO:0050728, GO:0045087, GO:0042981, negative regulation of T cell activation, negative regulation of inflammatory response, innate immune response, regulation of apoptotic process, 216 183 326 86 135 74 86 150 88 ENSG00000163155 chr1 151159748 151165948 - LYSMD1 protein_coding 388695 GO:0005654, nucleoplasm, GO:0005515, protein binding, 50 65 54 58 63 31 71 46 32 ENSG00000163156 chr1 151156664 151170297 + SCNM1 protein_coding SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009]. 79005 GO:0016607, GO:0005634, nuclear speck, nucleus, GO:0046872, GO:0019899, GO:0005515, metal ion binding, enzyme binding, protein binding, GO:0008380, GO:0000380, RNA splicing, alternative mRNA splicing, via spliceosome, 255 230 268 204 356 226 195 311 219 ENSG00000163157 chr1 151169986 151176284 - TMOD4 protein_coding 29765 GO:0030016, GO:0005865, GO:0005865, GO:0005856, myofibril, striated muscle thin filament, striated muscle thin filament, cytoskeleton, GO:0051015, GO:0005523, GO:0005515, actin filament binding, tropomyosin binding, protein binding, GO:0051694, GO:0030239, GO:0007015, GO:0006936, pointed-end actin filament capping, myofibril assembly, actin filament organization, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000163159 chr1 151169987 151195321 - VPS72 protein_coding The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]. 6944 GO:0032991, GO:0016607, GO:0005654, GO:0005634, protein-containing complex, nuclear speck, nucleoplasm, nucleus, GO:0042393, GO:0005515, GO:0003677, histone binding, protein binding, DNA binding, GO:0043486, GO:0043486, GO:0035019, GO:0000122, histone exchange, histone exchange, somatic stem cell population maintenance, negative regulation of transcription by RNA polymerase II, 140 93 135 95 125 98 114 100 73 ENSG00000163161 chr2 127257290 127294176 - ERCC3 protein_coding This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 2071 GO:0097550, GO:0005675, GO:0005675, GO:0005675, GO:0005669, GO:0005654, GO:0005654, GO:0005634, GO:0000439, GO:0000112, transcription preinitiation complex, transcription factor TFIIH holo complex, transcription factor TFIIH holo complex, transcription factor TFIIH holo complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, transcription factor TFIIH core complex, nucleotide-excision repair factor 3 complex, GO:1990841, GO:0047485, GO:0043138, GO:0043138, GO:0043138, GO:0016887, GO:0008134, GO:0008134, GO:0008022, GO:0005524, GO:0005515, GO:0004386, GO:0003684, GO:0003677, promoter-specific chromatin binding, protein N-terminus binding, 3'-5' DNA helicase activity, 3'-5' DNA helicase activity, 3'-5' DNA helicase activity, ATPase activity, transcription factor binding, transcription factor binding, protein C-terminus binding, ATP binding, protein binding, helicase activity, damaged DNA binding, DNA binding, GO:1901990, GO:0070911, GO:0048568, GO:0043065, GO:0035315, GO:0035315, GO:0033683, GO:0033683, GO:0033683, GO:0016032, GO:0009650, GO:0009411, GO:0009411, GO:0008104, GO:0006979, GO:0006915, GO:0006370, GO:0006368, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006283, GO:0006283, GO:0006281, GO:0006265, GO:0001666, GO:0000717, GO:0000717, regulation of mitotic cell cycle phase transition, global genome nucleotide-excision repair, embryonic organ development, positive regulation of apoptotic process, hair cell differentiation, hair cell differentiation, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA incision, viral process, UV protection, response to UV, response to UV, protein localization, response to oxidative stress, apoptotic process, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, DNA topological change, response to hypoxia, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA duplex unwinding, 145 131 150 204 203 149 161 143 176 ENSG00000163162 chr2 101271219 101308701 - RNF149 protein_coding 284996 GO:0016021, GO:0016020, GO:0005737, integral component of membrane, membrane, cytoplasm, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0043409, GO:0035690, GO:0031647, GO:0016567, GO:0006511, negative regulation of MAPK cascade, cellular response to drug, regulation of protein stability, protein ubiquitination, ubiquitin-dependent protein catabolic process, 14355 14871 19262 6865 13355 12167 8481 10079 10332 ENSG00000163166 chr2 127436207 127526886 - IWS1 protein_coding 55677 GO:0005654, GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:2001253, GO:2001253, GO:0090239, GO:0051028, GO:0050684, GO:0050684, GO:0010793, GO:0010793, GO:0008380, GO:0006397, GO:0006368, GO:0006366, regulation of histone H3-K36 trimethylation, regulation of histone H3-K36 trimethylation, regulation of histone H4 acetylation, mRNA transport, regulation of mRNA processing, regulation of mRNA processing, regulation of mRNA export from nucleus, regulation of mRNA export from nucleus, RNA splicing, mRNA processing, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 388 417 617 307 498 394 303 337 403 ENSG00000163170 chr2 74135398 74147994 - BOLA3 protein_coding This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]. 388962 GO:0016604, GO:0005829, GO:0005739, nuclear body, cytosol, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 3 0 5 7 2 8 4 1 6 ENSG00000163171 chr2 37641882 37738468 - CDC42EP3 protein_coding This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 10602 GO:0015629, GO:0012505, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005737, actin cytoskeleton, endomembrane system, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytoplasm, GO:0031267, GO:0005519, GO:0005515, small GTPase binding, cytoskeletal regulatory protein binding, protein binding, GO:0031274, GO:0030838, GO:0008360, GO:0007266, GO:0007165, positive regulation of pseudopodium assembly, positive regulation of actin filament polymerization, regulation of cell shape, Rho protein signal transduction, signal transduction, 8981 8491 13474 4686 3619 6215 7564 4748 6408 ENSG00000163191 chr1 152032506 152047907 - S100A11 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008]. 6282 GO:0070062, GO:0034774, GO:0005912, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0001726, extracellular exosome, secretory granule lumen, adherens junction, cytoplasm, cytoplasm, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, extracellular region, ruffle, GO:0098641, GO:0048306, GO:0048306, GO:0044548, GO:0044548, GO:0042803, GO:0005515, GO:0005509, cadherin binding involved in cell-cell adhesion, calcium-dependent protein binding, calcium-dependent protein binding, S100 protein binding, S100 protein binding, protein homodimerization activity, protein binding, calcium ion binding, GO:0098609, GO:0043312, GO:0014911, GO:0008285, GO:0008156, GO:0007165, cell-cell adhesion, neutrophil degranulation, positive regulation of smooth muscle cell migration, negative regulation of cell population proliferation, negative regulation of DNA replication, signal transduction, 10832 10308 13413 4015 7860 5931 5837 7920 6240 ENSG00000163202 chr1 152579381 152580504 - LCE3D protein_coding 84648 GO:0005829, cytosol, GO:0005515, protein binding, GO:0070268, cornification, 0 0 0 0 0 0 0 0 0 ENSG00000163206 chr1 152878317 152885047 + SMCP protein_coding Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm's mitochondrial sheath. [provided by RefSeq, Jul 2008]. 4184 GO:0031966, GO:0005739, GO:0005737, mitochondrial membrane, mitochondrion, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0030317, GO:0007341, flagellated sperm motility, penetration of zona pellucida, 0 0 0 4 0 0 0 0 0 ENSG00000163207 chr1 152908545 152911886 + IVL protein_coding Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008]. 3713 GO:0070062, GO:0016604, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0001533, GO:0001533, extracellular exosome, nuclear body, cytosol, cytosol, centrosome, cytoplasm, cornified envelope, cornified envelope, GO:0005515, protein binding, GO:0070268, GO:0030216, GO:0018153, GO:0018149, GO:0010224, cornification, keratinocyte differentiation, isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine, peptide cross-linking, response to UV-B, 0 0 0 0 0 0 0 0 0 ENSG00000163209 chr1 153001747 153003856 + SPRR3 protein_coding 6707 GO:0070062, GO:0048471, GO:0005829, GO:0005794, GO:0001533, extracellular exosome, perinuclear region of cytoplasm, cytosol, Golgi apparatus, cornified envelope, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0042060, GO:0030216, GO:0008544, cornification, wound healing, keratinocyte differentiation, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000163214 chr2 38797729 38875934 - DHX57 protein_coding 90957 GO:0005622, intracellular anatomical structure, GO:0046872, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003723, metal ion binding, ATP binding, protein binding, RNA helicase activity, RNA binding, RNA binding, 12 11 25 39 19 66 41 10 27 ENSG00000163216 chr1 153039725 153041931 - SPRR2D protein_coding 6703 GO:0005829, GO:0005737, GO:0001533, cytosol, cytoplasm, cornified envelope, GO:0070268, GO:0008544, cornification, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000163217 chr2 68865481 68871517 - BMP10 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]. 27302 GO:0030018, GO:0009986, GO:0005737, GO:0005615, GO:0005615, GO:0005576, Z disc, cell surface, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0033612, GO:0031433, GO:0008083, GO:0005515, GO:0005179, GO:0005125, receptor serine/threonine kinase binding, telethonin binding, growth factor activity, protein binding, hormone activity, cytokine activity, GO:2000138, GO:1903242, GO:0061036, GO:0060395, GO:0060389, GO:0060347, GO:0060298, GO:0060045, GO:0060038, GO:0055117, GO:0055015, GO:0055010, GO:0055009, GO:0045893, GO:0045214, GO:0032924, GO:0030509, GO:0030509, GO:0030336, GO:0030308, GO:0010862, GO:0010862, GO:0010614, GO:0010613, GO:0010596, GO:0007512, GO:0007155, GO:0001822, positive regulation of cell proliferation involved in heart morphogenesis, regulation of cardiac muscle hypertrophy in response to stress, positive regulation of cartilage development, SMAD protein signal transduction, pathway-restricted SMAD protein phosphorylation, heart trabecula formation, positive regulation of sarcomere organization, positive regulation of cardiac muscle cell proliferation, cardiac muscle cell proliferation, regulation of cardiac muscle contraction, ventricular cardiac muscle cell development, ventricular cardiac muscle tissue morphogenesis, atrial cardiac muscle tissue morphogenesis, positive regulation of transcription, DNA-templated, sarcomere organization, activin receptor signaling pathway, BMP signaling pathway, BMP signaling pathway, negative regulation of cell migration, negative regulation of cell growth, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of cardiac muscle hypertrophy, positive regulation of cardiac muscle hypertrophy, negative regulation of endothelial cell migration, adult heart development, cell adhesion, kidney development, 2 0 3 2 0 8 0 0 0 ENSG00000163218 chr1 153330120 153348840 - PGLYRP4 protein_coding Summary: This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014]. 57115 GO:0032991, GO:0016020, GO:0005576, protein-containing complex, membrane, extracellular region, GO:0046982, GO:0042834, GO:0016019, GO:0008745, GO:0008270, protein heterodimerization activity, peptidoglycan binding, peptidoglycan immune receptor activity, N-acetylmuramoyl-L-alanine amidase activity, zinc ion binding, GO:0061844, GO:0050830, GO:0045087, GO:0031640, GO:0016045, GO:0009253, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, innate immune response, killing of cells of other organism, detection of bacterium, peptidoglycan catabolic process, 5 1 1 0 1 2 1 0 0 ENSG00000163219 chr2 68679601 68826833 + ARHGAP25 protein_coding ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]. 9938 GO:0005829, GO:0001891, GO:0001891, cytosol, phagocytic cup, phagocytic cup, GO:0005096, GTPase activator activity, GO:0090630, GO:0051058, GO:0051058, GO:0051056, GO:0007165, GO:0007015, GO:0007015, GO:0006911, GO:0006911, activation of GTPase activity, negative regulation of small GTPase mediated signal transduction, negative regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, signal transduction, actin filament organization, actin filament organization, phagocytosis, engulfment, phagocytosis, engulfment, 4499 5157 4497 3532 5715 4163 3659 4286 3712 ENSG00000163220 chr1 153357854 153361027 + S100A9 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]. 6280 GO:0070062, GO:0062023, GO:0034774, GO:0030054, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, secretory granule lumen, cell junction, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0050786, GO:0050544, GO:0048306, GO:0035662, GO:0016209, GO:0008270, GO:0008017, GO:0005515, GO:0005509, GO:0005509, RAGE receptor binding, arachidonic acid binding, calcium-dependent protein binding, Toll-like receptor 4 binding, antioxidant activity, zinc ion binding, microtubule binding, protein binding, calcium ion binding, calcium ion binding, GO:2001244, GO:0098869, GO:0070488, GO:0070488, GO:0061844, GO:0061844, GO:0051493, GO:0051092, GO:0050832, GO:0050729, GO:0045113, GO:0045087, GO:0043312, GO:0042742, GO:0035821, GO:0035606, GO:0035425, GO:0032602, GO:0032496, GO:0032119, GO:0030593, GO:0030593, GO:0030307, GO:0019730, GO:0018119, GO:0014002, GO:0010976, GO:0007267, GO:0006954, GO:0006919, GO:0006915, GO:0006914, GO:0002544, GO:0002523, GO:0002523, GO:0002224, GO:0001816, positive regulation of intrinsic apoptotic signaling pathway, cellular oxidant detoxification, neutrophil aggregation, neutrophil aggregation, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, regulation of cytoskeleton organization, positive regulation of NF-kappaB transcription factor activity, defense response to fungus, positive regulation of inflammatory response, regulation of integrin biosynthetic process, innate immune response, neutrophil degranulation, defense response to bacterium, modulation of process of other organism, peptidyl-cysteine S-trans-nitrosylation, autocrine signaling, chemokine production, response to lipopolysaccharide, sequestering of zinc ion, neutrophil chemotaxis, neutrophil chemotaxis, positive regulation of cell growth, antimicrobial humoral response, peptidyl-cysteine S-nitrosylation, astrocyte development, positive regulation of neuron projection development, cell-cell signaling, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, autophagy, chronic inflammatory response, leukocyte migration involved in inflammatory response, leukocyte migration involved in inflammatory response, toll-like receptor signaling pathway, cytokine production, 88728 60556 102975 19239 44441 33954 28679 45267 37851 ENSG00000163221 chr1 153373706 153375649 - S100A12 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]. 6283 GO:0034774, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005615, GO:0005576, secretory granule lumen, plasma membrane, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleus, extracellular space, extracellular region, GO:0050786, GO:0050786, GO:0050786, GO:0050786, GO:0048306, GO:0008270, GO:0005515, GO:0005509, GO:0005509, GO:0005507, RAGE receptor binding, RAGE receptor binding, RAGE receptor binding, RAGE receptor binding, calcium-dependent protein binding, zinc ion binding, protein binding, calcium ion binding, calcium ion binding, copper ion binding, GO:0061844, GO:0061844, GO:0051092, GO:0050832, GO:0050832, GO:0050729, GO:0045576, GO:0045087, GO:0043406, GO:0043312, GO:0043123, GO:0043123, GO:0042742, GO:0031640, GO:0030593, GO:0006954, GO:0006805, GO:0002548, GO:0001816, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, positive regulation of NF-kappaB transcription factor activity, defense response to fungus, defense response to fungus, positive regulation of inflammatory response, mast cell activation, innate immune response, positive regulation of MAP kinase activity, neutrophil degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, defense response to bacterium, killing of cells of other organism, neutrophil chemotaxis, inflammatory response, xenobiotic metabolic process, monocyte chemotaxis, cytokine production, 1118 647 1347 365 529 557 453 556 621 ENSG00000163235 chr2 70447280 70554193 - TGFA protein_coding This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 7039 GO:0048471, GO:0033116, GO:0031410, GO:0030665, GO:0016323, GO:0016021, GO:0012507, GO:0009986, GO:0005886, GO:0005789, GO:0005615, GO:0005615, GO:0005576, GO:0000139, perinuclear region of cytoplasm, endoplasmic reticulum-Golgi intermediate compartment membrane, cytoplasmic vesicle, clathrin-coated vesicle membrane, basolateral plasma membrane, integral component of membrane, ER to Golgi transport vesicle membrane, cell surface, plasma membrane, endoplasmic reticulum membrane, extracellular space, extracellular space, extracellular region, Golgi membrane, GO:0008083, GO:0008083, GO:0005515, GO:0005154, GO:0005154, growth factor activity, growth factor activity, protein binding, epidermal growth factor receptor binding, epidermal growth factor receptor binding, GO:0061024, GO:0051897, GO:0051781, GO:0050679, GO:0048208, GO:0045840, GO:0045840, GO:0045741, GO:0045741, GO:0042059, GO:0035556, GO:0008284, GO:0007173, GO:0007173, GO:0007165, GO:0006888, GO:0006357, GO:0000187, GO:0000187, GO:0000165, membrane organization, positive regulation of protein kinase B signaling, positive regulation of cell division, positive regulation of epithelial cell proliferation, COPII vesicle coating, positive regulation of mitotic nuclear division, positive regulation of mitotic nuclear division, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of epidermal growth factor-activated receptor activity, negative regulation of epidermal growth factor receptor signaling pathway, intracellular signal transduction, positive regulation of cell population proliferation, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, endoplasmic reticulum to Golgi vesicle-mediated transport, regulation of transcription by RNA polymerase II, activation of MAPK activity, activation of MAPK activity, MAPK cascade, 516 507 625 196 461 401 268 360 380 ENSG00000163239 chr1 154502219 154548147 + TDRD10 protein_coding 126668 GO:0003723, RNA binding, 0 0 1 0 1 0 2 0 0 ENSG00000163249 chr2 207711540 207761839 + CCNYL1 protein_coding 151195 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0019901, GO:0016538, GO:0005515, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0045737, GO:0030317, GO:0007283, positive regulation of cyclin-dependent protein serine/threonine kinase activity, flagellated sperm motility, spermatogenesis, 144 128 201 184 141 167 124 101 93 ENSG00000163251 chr2 207762586 207769563 - FZD5 protein_coding Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]. 7855 GO:0048471, GO:0045202, GO:0043204, GO:0031901, GO:0030669, GO:0030425, GO:0030424, GO:0016021, GO:0009986, GO:0005923, GO:0005887, GO:0005886, GO:0005886, GO:0000139, perinuclear region of cytoplasm, synapse, perikaryon, early endosome membrane, clathrin-coated endocytic vesicle membrane, dendrite, axon, integral component of membrane, cell surface, bicellular tight junction, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi membrane, GO:0044877, GO:0042813, GO:0042813, GO:0042813, GO:0042813, GO:0031625, GO:0019901, GO:0017147, GO:0017147, GO:0017147, GO:0008289, GO:0005515, GO:0004930, GO:0001540, GO:0001540, protein-containing complex binding, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, ubiquitin protein ligase binding, protein kinase binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, lipid binding, protein binding, G protein-coupled receptor activity, amyloid-beta binding, amyloid-beta binding, GO:2000810, GO:1904886, GO:1903955, GO:1903146, GO:1901382, GO:0071219, GO:0060718, GO:0060716, GO:0060715, GO:0060670, GO:0060561, GO:0060071, GO:0060070, GO:0060070, GO:0060070, GO:0060061, GO:0048596, GO:0048469, GO:0045944, GO:0045944, GO:0043507, GO:0035567, GO:0033077, GO:0032760, GO:0032731, GO:0032729, GO:0031077, GO:0030182, GO:0008595, GO:0008285, GO:0007416, GO:0007223, GO:0007186, GO:0002726, GO:0001525, GO:0000578, regulation of bicellular tight junction assembly, beta-catenin destruction complex disassembly, positive regulation of protein targeting to mitochondrion, regulation of autophagy of mitochondrion, regulation of chorionic trophoblast cell proliferation, cellular response to molecule of bacterial origin, chorionic trophoblast cell differentiation, labyrinthine layer blood vessel development, syncytiotrophoblast cell differentiation involved in labyrinthine layer development, branching involved in labyrinthine layer morphogenesis, apoptotic process involved in morphogenesis, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, Spemann organizer formation, embryonic camera-type eye morphogenesis, cell maturation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of JUN kinase activity, non-canonical Wnt signaling pathway, T cell differentiation in thymus, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, post-embryonic camera-type eye development, neuron differentiation, anterior/posterior axis specification, embryo, negative regulation of cell population proliferation, synapse assembly, Wnt signaling pathway, calcium modulating pathway, G protein-coupled receptor signaling pathway, positive regulation of T cell cytokine production, angiogenesis, embryonic axis specification, 6 9 12 15 44 37 20 25 23 ENSG00000163254 chr2 208128137 208129830 - CRYGC protein_coding This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]. 1420 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0005212, GO:0005212, protein binding, structural constituent of eye lens, structural constituent of eye lens, GO:0007601, GO:0007601, GO:0002088, visual perception, visual perception, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000163257 chr4 17800655 17810758 - DCAF16 protein_coding 54876 GO:0080008, GO:0080008, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 425 380 453 309 306 474 416 267 360 ENSG00000163263 chr1 154199372 154206333 - C1orf189 protein_coding 388701 GO:0005515, protein binding, 4 4 2 5 8 6 1 5 8 ENSG00000163273 chr2 231921820 231926403 - NPPC protein_coding This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cardiac natriuretic peptides CNP-53, CNP-29 and CNP-22, which belong to the natriuretic family of peptides. The encoded peptides exhibit vasorelaxation activity in laboratory animals and elevated levels of CNP-22 have been observed in the plasma of chronic heart failure patients. [provided by RefSeq, Oct 2015]. 4880 GO:0032991, GO:0030141, GO:0005615, GO:0005576, protein-containing complex, secretory granule, extracellular space, extracellular region, GO:0051427, GO:0051427, GO:0005179, GO:0005102, hormone receptor binding, hormone receptor binding, hormone activity, signaling receptor binding, GO:2000279, GO:1903779, GO:1900194, GO:0097755, GO:0051447, GO:0048660, GO:0045669, GO:0045471, GO:0042493, GO:0040014, GO:0032966, GO:0022414, GO:0019934, GO:0010753, GO:0009791, GO:0008285, GO:0007168, GO:0007168, GO:0006457, GO:0006182, GO:0006182, GO:0003419, GO:0003418, GO:0001666, GO:0001503, negative regulation of DNA biosynthetic process, regulation of cardiac conduction, negative regulation of oocyte maturation, positive regulation of blood vessel diameter, negative regulation of meiotic cell cycle, regulation of smooth muscle cell proliferation, positive regulation of osteoblast differentiation, response to ethanol, response to drug, regulation of multicellular organism growth, negative regulation of collagen biosynthetic process, reproductive process, cGMP-mediated signaling, positive regulation of cGMP-mediated signaling, post-embryonic development, negative regulation of cell population proliferation, receptor guanylyl cyclase signaling pathway, receptor guanylyl cyclase signaling pathway, protein folding, cGMP biosynthetic process, cGMP biosynthetic process, growth plate cartilage chondrocyte proliferation, growth plate cartilage chondrocyte differentiation, response to hypoxia, ossification, 0 0 0 3 0 0 1 0 0 ENSG00000163281 chr4 44682200 44726595 - GNPDA2 protein_coding The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]. 132789 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0042802, GO:0005515, GO:0004342, identical protein binding, protein binding, glucosamine-6-phosphate deaminase activity, GO:0019262, GO:0006048, GO:0006046, GO:0006043, GO:0006043, GO:0005975, N-acetylneuraminate catabolic process, UDP-N-acetylglucosamine biosynthetic process, N-acetylglucosamine catabolic process, glucosamine catabolic process, glucosamine catabolic process, carbohydrate metabolic process, 18 6 23 51 14 12 46 18 29 ENSG00000163283 chr2 232378534 232382889 + ALPP protein_coding The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. One of the main sources of this enzyme is the liver, and thus, it's one of several indicators of liver injury in different clinical conditions. In pregnant women, this protein is primarily expressed in placental and endometrial tissue, however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Aug 2020]. 250 GO:0031225, GO:0016021, GO:0009986, GO:0005886, GO:0005886, anchored component of membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, GO:0008270, GO:0005515, GO:0004035, GO:0004035, GO:0004035, GO:0000287, zinc ion binding, protein binding, alkaline phosphatase activity, alkaline phosphatase activity, alkaline phosphatase activity, magnesium ion binding, GO:0016311, dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000163285 chr4 46035769 46124081 - GABRG1 protein_coding The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]. 2565 GO:1902711, GO:0098794, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0005887, GABA-A receptor complex, postsynapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, dendrite membrane, integral component of plasma membrane, GO:1904315, GO:0050811, GO:0030594, GO:0022851, GO:0008503, GO:0005515, GO:0005254, GO:0005237, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, GABA receptor binding, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, protein binding, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:1902476, GO:0060078, GO:0051932, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007214, GO:0007165, chloride transmembrane transport, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000163286 chr2 232406843 232410714 + ALPG protein_coding There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]. 251 GO:0031225, GO:0005886, GO:0005886, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0046872, GO:0004035, GO:0004035, GO:0004035, metal ion binding, alkaline phosphatase activity, alkaline phosphatase activity, alkaline phosphatase activity, GO:0016311, dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000163288 chr4 46993723 47426444 + GABRB1 protein_coding The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]. 2560 GO:1902711, GO:1902711, GO:1902711, GO:0098982, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0030425, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005635, GABA-A receptor complex, GABA-A receptor complex, GABA-A receptor complex, GABA-ergic synapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nuclear envelope, GO:1904315, GO:0050811, GO:0030594, GO:0022851, GO:0022851, GO:0015276, GO:0005254, GO:0004890, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, GABA receptor binding, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, GABA-gated chloride ion channel activity, ligand-gated ion channel activity, chloride channel activity, GABA-A receptor activity, GABA-A receptor activity, GO:1902476, GO:1902476, GO:0071420, GO:0060078, GO:0050877, GO:0042698, GO:0042391, GO:0034220, GO:0032570, GO:0021954, GO:0009636, GO:0007268, GO:0007214, GO:0007165, GO:0006811, chloride transmembrane transport, chloride transmembrane transport, cellular response to histamine, regulation of postsynaptic membrane potential, nervous system process, ovulation cycle, regulation of membrane potential, ion transmembrane transport, response to progesterone, central nervous system neuron development, response to toxic substance, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, ion transport, 0 2 0 0 0 0 0 0 0 ENSG00000163291 chr4 78887127 78939438 - PAQR3 protein_coding This gene encodes a seven-transmembrane protein localized in the Golgi apparatus in mammalian cells. The encoded protein belongs to the progestin and adipoQ receptor (PAQR) family. This protein functions as a tumor suppressor by inhibiting the Raf/MEK/ERK signaling cascade. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. 152559 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0043407, GO:0034067, GO:0033137, GO:0010977, GO:0001933, GO:0000165, negative regulation of MAP kinase activity, protein localization to Golgi apparatus, negative regulation of peptidyl-serine phosphorylation, negative regulation of neuron projection development, negative regulation of protein phosphorylation, MAPK cascade, 476 774 892 408 888 951 368 614 631 ENSG00000163293 chr4 47914142 48040173 + NIPAL1 protein_coding 152519 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0015095, magnesium ion transmembrane transporter activity, GO:1903830, GO:0015693, magnesium ion transmembrane transport, magnesium ion transport, 24 30 21 11 34 4 25 27 7 ENSG00000163295 chr2 232456123 232460032 + ALPI protein_coding There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]. 248 GO:0031225, GO:0005886, GO:0005886, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0008270, GO:0005515, GO:0004035, GO:0004035, GO:0004035, GO:0002020, GO:0000287, zinc ion binding, protein binding, alkaline phosphatase activity, alkaline phosphatase activity, alkaline phosphatase activity, protease binding, magnesium ion binding, GO:0016311, GO:0016311, GO:0007586, GO:0006654, dephosphorylation, dephosphorylation, digestion, phosphatidic acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000163297 chr4 79901149 80125454 - ANTXR2 protein_coding This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 118429 GO:0016021, GO:0010008, GO:0009986, GO:0005886, GO:0005886, GO:0005789, GO:0005576, integral component of membrane, endosome membrane, cell surface, plasma membrane, plasma membrane, endoplasmic reticulum membrane, extracellular region, GO:0046872, GO:0005515, GO:0004888, metal ion binding, protein binding, transmembrane signaling receptor activity, GO:1901998, GO:0022414, toxin transport, reproductive process, 1972 2054 2431 911 1481 1371 1174 1292 1226 ENSG00000163312 chr4 83407343 83455856 - HELQ protein_coding HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]. 113510 GO:0005634, nucleus, GO:1990518, GO:0005524, GO:0005515, GO:0003677, single-stranded 3'-5' DNA helicase activity, ATP binding, protein binding, DNA binding, GO:0032508, GO:0006364, GO:0000724, DNA duplex unwinding, rRNA processing, double-strand break repair via homologous recombination, 171 166 176 260 243 250 236 214 202 ENSG00000163319 chr4 83455932 83469735 + MRPS18C protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]. 51023 GO:0005763, GO:0005763, GO:0005743, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, GO:0070181, GO:0003735, GO:0003735, small ribosomal subunit rRNA binding, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 76 88 104 133 137 186 208 166 82 ENSG00000163320 chr3 88051944 88149885 - CGGBP1 protein_coding This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [provided by RefSeq, Jul 2017]. 8545 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0005515, GO:0003690, identical protein binding, protein binding, double-stranded DNA binding, GO:0090579, GO:0010468, GO:0000122, dsDNA loop formation, regulation of gene expression, negative regulation of transcription by RNA polymerase II, 1122 1121 1132 573 838 765 670 706 702 ENSG00000163322 chr4 83459517 83523348 - ABRAXAS1 protein_coding This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 84142 GO:0070531, GO:0016604, GO:0005654, GO:0005634, GO:0005634, BRCA1-A complex, nuclear body, nucleoplasm, nucleus, nucleus, GO:0031593, GO:0031593, GO:0008017, GO:0005515, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, microtubule binding, protein binding, GO:0090307, GO:0072425, GO:0070536, GO:0045739, GO:0016579, GO:0010212, GO:0008608, GO:0006325, GO:0006303, GO:0006302, mitotic spindle assembly, signal transduction involved in G2 DNA damage checkpoint, protein K63-linked deubiquitination, positive regulation of DNA repair, protein deubiquitination, response to ionizing radiation, attachment of spindle microtubules to kinetochore, chromatin organization, double-strand break repair via nonhomologous end joining, double-strand break repair, 58 67 85 124 140 159 120 113 75 ENSG00000163328 chr2 174431571 174487094 - GPR155 protein_coding 151556 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0003674, molecular_function, GO:0055085, GO:0050890, GO:0035556, transmembrane transport, cognition, intracellular signal transduction, 523 652 882 429 731 709 473 511 684 ENSG00000163331 chr2 158795317 158862781 + DAPL1 protein_coding 92196 GO:0070513, GO:0005515, death domain binding, protein binding, GO:0097190, GO:0034198, GO:0030154, GO:0010507, apoptotic signaling pathway, cellular response to amino acid starvation, cell differentiation, negative regulation of autophagy, 0 0 0 0 0 0 0 0 0 ENSG00000163344 chr1 154924734 154936991 - PMVK protein_coding This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 10654 GO:0070062, GO:0016020, GO:0005829, GO:0005829, GO:0005777, GO:0005777, extracellular exosome, membrane, cytosol, cytosol, peroxisome, peroxisome, GO:0005524, GO:0005515, GO:0004631, GO:0004631, GO:0004631, ATP binding, protein binding, phosphomevalonate kinase activity, phosphomevalonate kinase activity, phosphomevalonate kinase activity, GO:0070723, GO:0045540, GO:0019287, GO:0019287, GO:0016310, GO:0016126, GO:0006695, GO:0006695, GO:0006695, response to cholesterol, regulation of cholesterol biosynthetic process, isopentenyl diphosphate biosynthetic process, mevalonate pathway, isopentenyl diphosphate biosynthetic process, mevalonate pathway, phosphorylation, sterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, 15 24 24 52 33 48 32 21 38 ENSG00000163346 chr1 154944076 154956123 - PBXIP1 protein_coding The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]. 57326 GO:0016020, GO:0005874, GO:0005829, GO:0005634, membrane, microtubule, cytosol, nucleus, GO:0005515, GO:0003714, protein binding, transcription corepressor activity, GO:2001106, GO:0045892, GO:0030154, GO:0007275, regulation of Rho guanyl-nucleotide exchange factor activity, negative regulation of transcription, DNA-templated, cell differentiation, multicellular organism development, 7769 9903 8110 3678 6128 4197 4219 5719 3594 ENSG00000163347 chr3 190305701 190322475 - CLDN1 protein_coding Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]. 9076 GO:0070160, GO:0032991, GO:0016328, GO:0016324, GO:0016323, GO:0016021, GO:0005923, GO:0005923, GO:0005923, GO:0005887, GO:0005886, GO:0005886, GO:0005737, tight junction, protein-containing complex, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, bicellular tight junction, bicellular tight junction, bicellular tight junction, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042802, GO:0042802, GO:0005515, GO:0005198, GO:0001618, identical protein binding, identical protein binding, protein binding, structural molecule activity, virus receptor activity, GO:1903545, GO:1903348, GO:0097421, GO:0090557, GO:0090303, GO:0071560, GO:0071548, GO:0071356, GO:0071346, GO:0071284, GO:0070830, GO:0070830, GO:0070673, GO:0061772, GO:0061436, GO:0060054, GO:0051259, GO:0046718, GO:0045471, GO:0045216, GO:0042538, GO:0035633, GO:0034331, GO:0032496, GO:0030335, GO:0016338, GO:0009636, GO:0008065, GO:0007568, GO:0007155, cellular response to butyrate, positive regulation of bicellular tight junction assembly, liver regeneration, establishment of endothelial intestinal barrier, positive regulation of wound healing, cellular response to transforming growth factor beta stimulus, response to dexamethasone, cellular response to tumor necrosis factor, cellular response to interferon-gamma, cellular response to lead ion, bicellular tight junction assembly, bicellular tight junction assembly, response to interleukin-18, xenobiotic transport across blood-nerve barrier, establishment of skin barrier, positive regulation of epithelial cell proliferation involved in wound healing, protein complex oligomerization, viral entry into host cell, response to ethanol, cell-cell junction organization, hyperosmotic salinity response, maintenance of blood-brain barrier, cell junction maintenance, response to lipopolysaccharide, positive regulation of cell migration, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, response to toxic substance, establishment of blood-nerve barrier, aging, cell adhesion, 0 0 1 1 0 0 2 0 0 ENSG00000163348 chr1 154957026 154963853 - PYGO2 protein_coding 90780 GO:1990907, GO:0005654, beta-catenin-TCF complex, nucleoplasm, GO:0046872, GO:0042393, GO:0035034, GO:0005515, GO:0003682, metal ion binding, histone binding, histone acetyltransferase regulator activity, protein binding, chromatin binding, GO:1904837, GO:0060070, GO:0060021, GO:0051569, GO:0048589, GO:0035563, GO:0035065, GO:0033599, GO:0030879, GO:0007420, GO:0007289, GO:0002088, GO:0001822, beta-catenin-TCF complex assembly, canonical Wnt signaling pathway, roof of mouth development, regulation of histone H3-K4 methylation, developmental growth, positive regulation of chromatin binding, regulation of histone acetylation, regulation of mammary gland epithelial cell proliferation, mammary gland development, brain development, spermatid nucleus differentiation, lens development in camera-type eye, kidney development, 167 234 246 179 215 182 204 197 185 ENSG00000163349 chr1 113929192 113977869 + HIPK1 protein_coding The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]. 204851 GO:0016607, GO:0016605, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, nuclear speck, PML body, cytosol, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004713, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine kinase activity, GO:1901796, GO:0097191, GO:0072577, GO:0061072, GO:0060235, GO:0060216, GO:0060059, GO:0048596, GO:0045766, GO:0042771, GO:0034333, GO:0030182, GO:0018108, GO:0018107, GO:0018105, GO:0010842, GO:0010803, GO:0009952, GO:0008284, GO:0007224, GO:0006468, GO:0001654, regulation of signal transduction by p53 class mediator, extrinsic apoptotic signaling pathway, endothelial cell apoptotic process, iris morphogenesis, lens induction in camera-type eye, definitive hemopoiesis, embryonic retina morphogenesis in camera-type eye, embryonic camera-type eye morphogenesis, positive regulation of angiogenesis, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, adherens junction assembly, neuron differentiation, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, retina layer formation, regulation of tumor necrosis factor-mediated signaling pathway, anterior/posterior pattern specification, positive regulation of cell population proliferation, smoothened signaling pathway, protein phosphorylation, eye development, 4362 4230 6560 1531 2557 2917 2006 1987 2657 ENSG00000163352 chr1 154993586 154994315 + LENEP protein_coding The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008]. 55891 GO:0005515, GO:0003677, protein binding, DNA binding, GO:0007275, multicellular organism development, 8 1 6 0 0 1 6 0 0 ENSG00000163354 chr1 155018520 155033781 - DCST2 protein_coding 127579 GO:0016021, integral component of membrane, 27 26 25 15 55 60 43 32 30 ENSG00000163357 chr1 155033824 155050930 + DCST1 protein_coding This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 149095 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0060339, GO:0045087, GO:0016567, GO:0006511, negative regulation of type I interferon-mediated signaling pathway, innate immune response, protein ubiquitination, ubiquitin-dependent protein catabolic process, 18 14 12 11 17 14 12 11 5 ENSG00000163359 chr2 237324003 237414375 - COL6A3 protein_coding This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]. 1293 GO:1903561, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0042383, GO:0031012, GO:0005788, GO:0005615, GO:0005615, GO:0005589, GO:0005576, GO:0005576, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, sarcolemma, extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, collagen type VI trimer, extracellular region, extracellular region, GO:0030020, GO:0030020, GO:0004867, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, serine-type endopeptidase inhibitor activity, GO:0030198, GO:0010951, GO:0007517, GO:0007155, extracellular matrix organization, negative regulation of endopeptidase activity, muscle organ development, cell adhesion, 3 3 4 4 2 6 9 0 5 ENSG00000163362 chr1 200891048 200915735 + INAVA protein_coding 55765 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:1903409, GO:0070431, GO:0060729, GO:0045087, GO:0043123, GO:0034334, GO:0034334, GO:0032874, GO:0032755, GO:0032733, GO:0032731, GO:0032495, GO:0032494, GO:0031398, GO:0031398, GO:0002367, GO:0002221, GO:0000187, reactive oxygen species biosynthetic process, nucleotide-binding oligomerization domain containing 2 signaling pathway, intestinal epithelial structure maintenance, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, adherens junction maintenance, adherens junction maintenance, positive regulation of stress-activated MAPK cascade, positive regulation of interleukin-6 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 beta production, response to muramyl dipeptide, response to peptidoglycan, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, cytokine production involved in immune response, pattern recognition receptor signaling pathway, activation of MAPK activity, 0 0 0 3 0 0 3 0 1 ENSG00000163364 chr2 176629589 176637931 - LINC01116 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000163374 chr1 155659443 155689000 - YY1AP1 protein_coding The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 55249 GO:0031011, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0001650, Ino80 complex, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0005515, GO:0003712, protein binding, transcription coregulator activity, GO:0051726, GO:0051726, GO:0030154, GO:0008283, GO:0006355, regulation of cell cycle, regulation of cell cycle, cell differentiation, cell population proliferation, regulation of transcription, DNA-templated, 765 741 1212 522 630 757 558 471 632 ENSG00000163376 chr3 66998307 67011210 + KBTBD8 protein_coding 84541 GO:0031463, GO:0005829, GO:0005819, GO:0005794, Cul3-RING ubiquitin ligase complex, cytosol, spindle, Golgi apparatus, GO:0005515, protein binding, GO:0043687, GO:0014032, GO:0014029, GO:0006513, GO:0006417, post-translational protein modification, neural crest cell development, neural crest formation, protein monoubiquitination, regulation of translation, 16 15 24 132 62 95 90 39 80 ENSG00000163377 chr3 68731766 68953297 - FAM19A4 protein_coding This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]. 151647 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0048018, GO:0048018, GO:0005515, receptor ligand activity, receptor ligand activity, protein binding, GO:0051930, GO:0048246, GO:0048246, GO:0042554, GO:0042391, GO:0010469, GO:0007165, GO:0006909, GO:0006909, regulation of sensory perception of pain, macrophage chemotaxis, macrophage chemotaxis, superoxide anion generation, regulation of membrane potential, regulation of signaling receptor activity, signal transduction, phagocytosis, phagocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000163378 chr3 68975214 69013961 - EOGT protein_coding This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 285203 GO:0005788, endoplasmic reticulum lumen, GO:0097363, GO:0016757, GO:0016262, GO:0016262, protein O-GlcNAc transferase activity, transferase activity, transferring glycosyl groups, protein N-acetylglucosaminyltransferase activity, protein N-acetylglucosaminyltransferase activity, GO:0097370, GO:0006493, protein O-GlcNAcylation via threonine, protein O-linked glycosylation, 32 33 60 85 37 47 71 21 69 ENSG00000163380 chr3 69106872 69123032 - LMOD3 protein_coding The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]. 56203 GO:0031430, GO:0030016, GO:0005865, GO:0005865, GO:0005856, GO:0005737, M band, myofibril, striated muscle thin filament, striated muscle thin filament, cytoskeleton, cytoplasm, GO:0005523, GO:0005523, GO:0005515, GO:0003785, tropomyosin binding, tropomyosin binding, protein binding, actin monomer binding, GO:0051694, GO:0048743, GO:0048741, GO:0045010, GO:0030240, GO:0030239, GO:0007015, GO:0006941, GO:0006936, pointed-end actin filament capping, positive regulation of skeletal muscle fiber development, skeletal muscle fiber development, actin nucleation, skeletal muscle thin filament assembly, myofibril assembly, actin filament organization, striated muscle contraction, muscle contraction, 4 2 2 0 0 5 5 3 0 ENSG00000163382 chr1 156591762 156594299 + NAXE protein_coding The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]. 128240 GO:0070062, GO:0044297, GO:0043231, GO:0016020, GO:0005929, GO:0005829, GO:0005759, GO:0005739, GO:0005654, GO:0005615, GO:0005576, extracellular exosome, cell body, intracellular membrane-bounded organelle, membrane, cilium, cytosol, mitochondrial matrix, mitochondrion, nucleoplasm, extracellular space, extracellular region, GO:0052857, GO:0052856, GO:0046872, GO:0042802, GO:0005515, GO:0000166, NADPHX epimerase activity, NADHX epimerase activity, metal ion binding, identical protein binding, protein binding, nucleotide binding, GO:0046496, GO:0034356, GO:0031580, GO:0016525, GO:0010874, GO:0006869, GO:0002040, nicotinamide nucleotide metabolic process, NAD biosynthesis via nicotinamide riboside salvage pathway, membrane raft distribution, negative regulation of angiogenesis, regulation of cholesterol efflux, lipid transport, sprouting angiogenesis, 20 9 25 46 20 45 19 13 29 ENSG00000163389 chr3 119468938 119494708 + POGLUT1 protein_coding This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 56983 GO:0012505, GO:0005829, GO:0005788, GO:0005783, endomembrane system, cytosol, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0046527, GO:0046527, GO:0035252, GO:0035252, GO:0035251, GO:0035251, GO:0035251, glucosyltransferase activity, glucosyltransferase activity, UDP-xylosyltransferase activity, UDP-xylosyltransferase activity, UDP-glucosyltransferase activity, UDP-glucosyltransferase activity, UDP-glucosyltransferase activity, GO:0060537, GO:0048339, GO:0048318, GO:0045747, GO:0045747, GO:0018242, GO:0018242, GO:0010470, GO:0007369, GO:0006493, GO:0006493, GO:0001756, muscle tissue development, paraxial mesoderm development, axial mesoderm development, positive regulation of Notch signaling pathway, positive regulation of Notch signaling pathway, protein O-linked glycosylation via serine, protein O-linked glycosylation via serine, regulation of gastrulation, gastrulation, protein O-linked glycosylation, protein O-linked glycosylation, somitogenesis, 17 16 36 34 24 53 46 17 32 ENSG00000163393 chr1 115976498 116070054 + SLC22A15 protein_coding Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]. 55356 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0022857, GO:0003674, transmembrane transporter activity, molecular_function, GO:0055085, GO:0008150, GO:0006811, transmembrane transport, biological_process, ion transport, 393 580 577 388 869 775 510 610 577 ENSG00000163394 chr4 26481400 26490462 - CCKAR protein_coding This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]. 886 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0017046, GO:0004951, GO:0004951, GO:0004930, peptide hormone binding, cholecystokinin receptor activity, cholecystokinin receptor activity, G protein-coupled receptor activity, GO:0046883, GO:0038188, GO:0030900, GO:0007409, GO:0007200, GO:0007186, GO:0007186, GO:0001764, regulation of hormone secretion, cholecystokinin signaling pathway, forebrain development, axonogenesis, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, neuron migration, 0 0 0 1 0 0 0 0 0 ENSG00000163395 chr1 201190825 201228952 + IGFN1 protein_coding 91156 GO:0045202, GO:0030018, GO:0005634, synapse, Z disc, nucleus, GO:0005515, protein binding, GO:0010842, GO:0008150, GO:0007416, GO:0007156, retina layer formation, biological_process, synapse assembly, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 0 0 0 0 0 0 0 ENSG00000163399 chr1 116372668 116410261 + ATP1A1 protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 476 GO:1903561, GO:0070062, GO:0060342, GO:0045121, GO:0042470, GO:0042383, GO:0036126, GO:0032991, GO:0031090, GO:0030315, GO:0016328, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0014704, GO:0014069, GO:0005901, GO:0005890, GO:0005890, GO:0005890, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005768, extracellular vesicle, extracellular exosome, photoreceptor inner segment membrane, membrane raft, melanosome, sarcolemma, sperm flagellum, protein-containing complex, organelle membrane, T-tubule, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, intercalated disc, postsynaptic density, caveola, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, sodium:potassium-exchanging ATPase complex, plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, endosome, GO:1990239, GO:0051087, GO:0046982, GO:0043548, GO:0043531, GO:0031402, GO:0030955, GO:0030506, GO:0019904, GO:0019901, GO:0016791, GO:0005524, GO:0005515, GO:0005391, GO:0005391, GO:0005391, GO:0005391, GO:0005391, steroid hormone binding, chaperone binding, protein heterodimerization activity, phosphatidylinositol 3-kinase binding, ADP binding, sodium ion binding, potassium ion binding, ankyrin binding, protein domain specific binding, protein kinase binding, phosphatase activity, ATP binding, protein binding, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, sodium:potassium-exchanging ATPase activity, GO:1990573, GO:1990573, GO:1990573, GO:1903779, GO:1903416, GO:1902600, GO:0086064, GO:0086013, GO:0086009, GO:0086004, GO:0086002, GO:0071383, GO:0071260, GO:0060081, GO:0055119, GO:0045989, GO:0045823, GO:0045822, GO:0042493, GO:0036376, GO:0036376, GO:0036376, GO:0034220, GO:0031947, GO:0030007, GO:0030007, GO:0016311, GO:0010248, GO:0008217, GO:0006883, GO:0006883, GO:0002028, GO:0002026, potassium ion import across plasma membrane, potassium ion import across plasma membrane, potassium ion import across plasma membrane, regulation of cardiac conduction, response to glycoside, proton transmembrane transport, cell communication by electrical coupling involved in cardiac conduction, membrane repolarization during cardiac muscle cell action potential, membrane repolarization, regulation of cardiac muscle cell contraction, cardiac muscle cell action potential involved in contraction, cellular response to steroid hormone stimulus, cellular response to mechanical stimulus, membrane hyperpolarization, relaxation of cardiac muscle, positive regulation of striated muscle contraction, positive regulation of heart contraction, negative regulation of heart contraction, response to drug, sodium ion export across plasma membrane, sodium ion export across plasma membrane, sodium ion export across plasma membrane, ion transmembrane transport, negative regulation of glucocorticoid biosynthetic process, cellular potassium ion homeostasis, cellular potassium ion homeostasis, dephosphorylation, establishment or maintenance of transmembrane electrochemical gradient, regulation of blood pressure, cellular sodium ion homeostasis, cellular sodium ion homeostasis, regulation of sodium ion transport, regulation of the force of heart contraction, 1516 1318 2523 1349 1168 1708 1178 842 1376 ENSG00000163406 chr3 121894089 121944102 + SLC15A2 protein_coding The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011]. 6565 GO:0089717, GO:0070062, GO:0044214, GO:0016324, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, spanning component of membrane, extracellular exosome, spanning component of plasma membrane, apical plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0071916, GO:0071916, GO:0015333, GO:0005515, dipeptide transmembrane transporter activity, dipeptide transmembrane transporter activity, peptide:proton symporter activity, protein binding, GO:1990961, GO:1902600, GO:0150104, GO:0140206, GO:0070424, GO:0070293, GO:0045087, GO:0042938, GO:0042908, GO:0015835, GO:0015031, GO:0006811, xenobiotic detoxification by transmembrane export across the plasma membrane, proton transmembrane transport, transport across blood-brain barrier, dipeptide import across plasma membrane, regulation of nucleotide-binding oligomerization domain containing signaling pathway, renal absorption, innate immune response, dipeptide transport, xenobiotic transport, peptidoglycan transport, protein transport, ion transport, 21 22 28 41 33 28 21 31 19 ENSG00000163412 chr3 71675416 71754773 - EIF4E3 protein_coding EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM, Mar 2008]. 317649 GO:0016281, GO:0005845, GO:0005829, eukaryotic translation initiation factor 4F complex, mRNA cap binding complex, cytosol, GO:0003743, GO:0000340, translation initiation factor activity, RNA 7-methylguanosine cap binding, GO:0006417, GO:0006413, regulation of translation, translational initiation, 1274 883 1413 713 932 951 870 691 861 ENSG00000163421 chr3 71771656 71785206 - PROK2 protein_coding This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 60675 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0005515, GO:0001664, GO:0001664, protein binding, G protein-coupled receptor binding, G protein-coupled receptor binding, GO:0045987, GO:0045765, GO:0043066, GO:0019233, GO:0008284, GO:0007623, GO:0007283, GO:0007218, GO:0007204, GO:0007186, GO:0007186, GO:0006954, GO:0006935, GO:0001935, GO:0001525, GO:0000187, GO:0000187, positive regulation of smooth muscle contraction, regulation of angiogenesis, negative regulation of apoptotic process, sensory perception of pain, positive regulation of cell population proliferation, circadian rhythm, spermatogenesis, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, chemotaxis, endothelial cell proliferation, angiogenesis, activation of MAPK activity, activation of MAPK activity, 5272 5006 8837 2084 3652 3591 3300 3571 3320 ENSG00000163424 chr3 119146150 119160042 + C3orf30 protein_coding 152405 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000163428 chr3 120324509 120349339 - LRRC58 protein_coding 116064 120 109 161 190 82 225 159 71 139 ENSG00000163430 chr3 120392293 120451253 - FSTL1 protein_coding This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]. 11167 GO:0070062, GO:0005788, GO:0005615, GO:0005576, extracellular exosome, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0008201, GO:0005515, GO:0005509, heparin binding, protein binding, calcium ion binding, GO:0045446, GO:0044267, GO:0043687, GO:0043542, GO:0043066, GO:0042594, GO:0030510, GO:0030509, GO:0030154, GO:0007275, endothelial cell differentiation, cellular protein metabolic process, post-translational protein modification, endothelial cell migration, negative regulation of apoptotic process, response to starvation, regulation of BMP signaling pathway, BMP signaling pathway, cell differentiation, multicellular organism development, 1 0 1 0 0 0 0 0 0 ENSG00000163431 chr1 201896452 201946588 - LMOD1 protein_coding The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]. 25802 GO:0030017, GO:0030016, GO:0030016, GO:0016020, GO:0005884, GO:0005865, GO:0005856, GO:0005829, GO:0005829, sarcomere, myofibril, myofibril, membrane, actin filament, striated muscle thin filament, cytoskeleton, cytosol, cytosol, GO:0005523, GO:0003779, tropomyosin binding, actin binding, GO:0051694, GO:0045010, GO:0030838, GO:0030239, GO:0007015, GO:0006936, GO:0006936, pointed-end actin filament capping, actin nucleation, positive regulation of actin filament polymerization, myofibril assembly, actin filament organization, muscle contraction, muscle contraction, 1 0 0 0 0 0 1 2 0 ENSG00000163435 chr1 202007945 202017188 + ELF3 protein_coding 1999 GO:0005829, GO:0005794, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060056, GO:0045944, GO:0045892, GO:0045747, GO:0030855, GO:0030198, GO:0030154, GO:0006954, GO:0006366, GO:0006357, GO:0001824, mammary gland involution, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, epithelial cell differentiation, extracellular matrix organization, cell differentiation, inflammatory response, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, blastocyst development, 3 3 5 1 21 19 10 8 12 ENSG00000163440 chr4 55556525 55592212 - PDCL2 protein_coding This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]. 132954 0 0 0 0 0 0 0 0 0 ENSG00000163444 chr1 203007386 203024848 + TMEM183A protein_coding 92703 GO:0016021, integral component of membrane, GO:0005515, protein binding, 457 456 466 276 321 268 318 327 267 ENSG00000163449 chr2 216081866 216102783 + TMEM169 protein_coding 92691 GO:0016021, integral component of membrane, 4 12 4 7 13 1 8 13 0 ENSG00000163453 chr4 57030773 57110385 - IGFBP7 protein_coding This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]. 3490 GO:0070062, GO:0062023, GO:0062023, GO:0005788, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, extracellular region, GO:0005520, GO:0005515, GO:0005201, insulin-like growth factor binding, protein binding, extracellular matrix structural constituent, GO:0051414, GO:0050810, GO:0044267, GO:0043687, GO:0032870, GO:0032526, GO:0009966, GO:0009408, GO:0008285, GO:0007566, GO:0007155, GO:0001558, response to cortisol, regulation of steroid biosynthetic process, cellular protein metabolic process, post-translational protein modification, cellular response to hormone stimulus, response to retinoic acid, regulation of signal transduction, response to heat, negative regulation of cell population proliferation, embryo implantation, cell adhesion, regulation of cell growth, 44 25 46 53 47 27 37 39 27 ENSG00000163462 chr1 155173787 155184971 + TRIM46 protein_coding 80128 GO:1990769, GO:1904115, GO:0044304, GO:0043194, GO:0005856, proximal neuron projection, axon cytoplasm, main axon, axon initial segment, cytoskeleton, GO:0008270, zinc ion binding, GO:1903827, GO:1901953, GO:0099612, GO:0048490, GO:0030517, GO:0007409, GO:0001764, GO:0001578, regulation of cellular protein localization, positive regulation of anterograde dense core granule transport, protein localization to axon, anterograde synaptic vesicle transport, negative regulation of axon extension, axonogenesis, neuron migration, microtubule bundle formation, 5 7 9 10 1 13 8 1 3 ENSG00000163463 chr1 155169408 155173475 - KRTCAP2 protein_coding 200185 GO:0016021, GO:0008250, integral component of membrane, oligosaccharyltransferase complex, GO:0008047, enzyme activator activity, GO:0043085, GO:0042543, GO:0042543, GO:0006487, positive regulation of catalytic activity, protein N-linked glycosylation via arginine, protein N-linked glycosylation via arginine, protein N-linked glycosylation, 8 13 13 5 12 13 11 10 1 ENSG00000163464 chr2 218162845 218166995 - CXCR1 protein_coding The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008]. 3577 GO:0030667, GO:0016021, GO:0009897, GO:0005886, secretory granule membrane, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0019959, GO:0019957, GO:0016493, GO:0005515, GO:0004950, GO:0004930, GO:0004918, interleukin-8 binding, C-C chemokine binding, C-C chemokine receptor activity, protein binding, chemokine receptor activity, G protein-coupled receptor activity, interleukin-8 receptor activity, GO:0070098, GO:0060326, GO:0043312, GO:0038112, GO:0031623, GO:0030593, GO:0019722, GO:0007204, GO:0007186, GO:0007166, GO:0006955, GO:0002407, chemokine-mediated signaling pathway, cell chemotaxis, neutrophil degranulation, interleukin-8-mediated signaling pathway, receptor internalization, neutrophil chemotaxis, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, immune response, dendritic cell chemotaxis, 18968 19779 18311 2244 7244 3850 4194 7456 4420 ENSG00000163466 chr2 218217094 218254356 + ARPC2 protein_coding This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]. 10109 GO:0070062, GO:0045202, GO:0043005, GO:0036195, GO:0035861, GO:0030027, GO:0015629, GO:0005925, GO:0005885, GO:0005885, GO:0005829, GO:0005768, GO:0005634, extracellular exosome, synapse, neuron projection, muscle cell projection membrane, site of double-strand break, lamellipodium, actin cytoskeleton, focal adhesion, Arp2/3 protein complex, Arp2/3 protein complex, cytosol, endosome, nucleus, GO:0051015, GO:0005515, GO:0005200, GO:0005200, actin filament binding, protein binding, structural constituent of cytoskeleton, structural constituent of cytoskeleton, GO:1900026, GO:0070358, GO:0061024, GO:0048013, GO:0038096, GO:0034314, GO:0034314, GO:0030041, GO:0010592, positive regulation of substrate adhesion-dependent cell spreading, actin polymerization-dependent cell motility, membrane organization, ephrin receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, Arp2/3 complex-mediated actin nucleation, Arp2/3 complex-mediated actin nucleation, actin filament polymerization, positive regulation of lamellipodium assembly, 10267 9152 12175 7367 10258 10367 8079 8366 8513 ENSG00000163467 chr1 156337314 156346995 + TSACC protein_coding 128229 GO:0005737, cytoplasm, GO:0051087, GO:0051087, GO:0005515, chaperone binding, chaperone binding, protein binding, 0 0 4 3 0 0 2 0 1 ENSG00000163468 chr1 156308968 156367873 - CCT3 protein_coding The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]. 7203 GO:0070062, GO:0044297, GO:0005886, GO:0005874, GO:0005856, GO:0005832, GO:0005832, GO:0005832, GO:0005829, GO:0005829, GO:0002199, extracellular exosome, cell body, plasma membrane, microtubule, cytoskeleton, chaperonin-containing T-complex, chaperonin-containing T-complex, chaperonin-containing T-complex, cytosol, cytosol, zona pellucida receptor complex, GO:0051082, GO:0005524, GO:0005515, GO:0003723, unfolded protein binding, ATP binding, protein binding, RNA binding, GO:1904874, GO:1904871, GO:1904851, GO:1901998, GO:0050821, GO:0046931, GO:0032212, GO:0007339, GO:0006457, GO:0006457, positive regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, toxin transport, protein stabilization, pore complex assembly, positive regulation of telomere maintenance via telomerase, binding of sperm to zona pellucida, protein folding, protein folding, 104 96 134 205 123 229 171 123 118 ENSG00000163472 chr1 156282935 156293185 + TMEM79 protein_coding 84283 GO:0032588, GO:0032588, GO:0016021, GO:0005765, GO:0005765, trans-Golgi network membrane, trans-Golgi network membrane, integral component of membrane, lysosomal membrane, lysosomal membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0070268, GO:0061436, GO:0045684, GO:0045055, GO:0045055, GO:0042335, GO:0031069, GO:0002070, cornification, establishment of skin barrier, positive regulation of epidermis development, regulated exocytosis, regulated exocytosis, cuticle development, hair follicle morphogenesis, epithelial cell maturation, 25 40 32 43 64 54 35 61 43 ENSG00000163479 chr1 156009048 156020959 - SSR2 protein_coding The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]. 6746 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0006613, cotranslational protein targeting to membrane, 1091 865 1202 692 912 786 620 722 643 ENSG00000163481 chr2 218663864 218672411 - RNF25 protein_coding The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008]. 64320 GO:0005829, GO:0005634, GO:0005634, cytosol, nucleus, nucleus, GO:0061630, GO:0051059, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, NF-kappaB binding, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0051092, GO:0051092, GO:0016567, GO:0016567, GO:0016567, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, protein ubiquitination, protein ubiquitination, protein ubiquitination, 67 49 67 25 42 53 47 33 32 ENSG00000163482 chr2 218672026 218702716 + STK36 protein_coding This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 27148 GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005576, cytosol, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0106311, GO:0106310, GO:0046872, GO:0008134, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, transcription factor binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0060271, GO:0051090, GO:0045880, GO:0009791, GO:0007420, GO:0007228, GO:0007228, GO:0007224, GO:0006468, GO:0003351, cilium assembly, regulation of DNA-binding transcription factor activity, positive regulation of smoothened signaling pathway, post-embryonic development, brain development, positive regulation of hh target transcription factor activity, positive regulation of hh target transcription factor activity, smoothened signaling pathway, protein phosphorylation, epithelial cilium movement involved in extracellular fluid movement, 53 68 71 73 66 66 80 56 33 ENSG00000163485 chr1 203090654 203167405 + ADORA1 protein_coding The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]. 134 GO:0099056, GO:0099055, GO:0048786, GO:0043197, GO:0043195, GO:0043025, GO:0030673, GO:0016323, GO:0014069, GO:0005887, GO:0005886, GO:0005886, GO:0005783, integral component of presynaptic membrane, integral component of postsynaptic membrane, presynaptic active zone, dendritic spine, terminal bouton, neuronal cell body, axolemma, basolateral plasma membrane, postsynaptic density, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0046982, GO:0032795, GO:0031683, GO:0031072, GO:0005515, GO:0001883, GO:0001664, GO:0001609, protein heterodimerization activity, heterotrimeric G-protein binding, G-protein beta/gamma-subunit complex binding, heat shock protein binding, protein binding, purine nucleoside binding, G protein-coupled receptor binding, G protein-coupled adenosine receptor activity, GO:1901216, GO:1900453, GO:1900272, GO:0097756, GO:0097190, GO:0086004, GO:0070328, GO:0070256, GO:0060087, GO:0060079, GO:0055089, GO:0051967, GO:0051930, GO:0050996, GO:0050995, GO:0050965, GO:0050890, GO:0046888, GO:0045822, GO:0045741, GO:0043268, GO:0043066, GO:0042323, GO:0035814, GO:0035307, GO:0032900, GO:0032244, GO:0032229, GO:0016042, GO:0014050, GO:0008285, GO:0007399, GO:0007267, GO:0007193, GO:0007186, GO:0007165, GO:0006954, GO:0006909, GO:0006612, GO:0003093, GO:0003085, GO:0003084, GO:0002793, GO:0002686, GO:0002674, GO:0002087, GO:0001973, GO:0001666, GO:0001659, GO:0000186, positive regulation of neuron death, negative regulation of long-term synaptic depression, negative regulation of long-term synaptic potentiation, negative regulation of blood vessel diameter, apoptotic signaling pathway, regulation of cardiac muscle cell contraction, triglyceride homeostasis, negative regulation of mucus secretion, relaxation of vascular associated smooth muscle, excitatory postsynaptic potential, fatty acid homeostasis, negative regulation of synaptic transmission, glutamatergic, regulation of sensory perception of pain, positive regulation of lipid catabolic process, negative regulation of lipid catabolic process, detection of temperature stimulus involved in sensory perception of pain, cognition, negative regulation of hormone secretion, negative regulation of heart contraction, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of potassium ion transport, negative regulation of apoptotic process, negative regulation of circadian sleep/wake cycle, non-REM sleep, negative regulation of renal sodium excretion, positive regulation of protein dephosphorylation, negative regulation of neurotrophin production, positive regulation of nucleoside transport, negative regulation of synaptic transmission, GABAergic, lipid catabolic process, negative regulation of glutamate secretion, negative regulation of cell population proliferation, nervous system development, cell-cell signaling, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, phagocytosis, protein targeting to membrane, regulation of glomerular filtration, negative regulation of systemic arterial blood pressure, positive regulation of systemic arterial blood pressure, positive regulation of peptide secretion, negative regulation of leukocyte migration, negative regulation of acute inflammatory response, regulation of respiratory gaseous exchange by nervous system process, G protein-coupled adenosine receptor signaling pathway, response to hypoxia, temperature homeostasis, activation of MAPKK activity, 1 0 2 0 2 0 0 0 0 ENSG00000163491 chr3 27110085 27369460 - NEK10 protein_coding 152110 GO:1902911, GO:0005576, protein kinase complex, extracellular region, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein serine/threonine kinase activity, protein kinase activity, GO:1902749, GO:1902749, GO:0120197, GO:0070372, GO:0043406, GO:0043406, GO:0031954, GO:0006468, regulation of cell cycle G2/M phase transition, regulation of cell cycle G2/M phase transition, mucociliary clearance, regulation of ERK1 and ERK2 cascade, positive regulation of MAP kinase activity, positive regulation of MAP kinase activity, positive regulation of protein autophosphorylation, protein phosphorylation, 0 0 1 1 1 2 1 0 8 ENSG00000163492 chr2 178829757 179050086 - CCDC141 protein_coding 285025 GO:0043005, GO:0005815, GO:0005737, neuron projection, microtubule organizing center, cytoplasm, GO:0005515, protein binding, 7 9 9 16 4 24 7 4 22 ENSG00000163497 chr2 218981087 218985657 - FEV protein_coding This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008]. 54738 GO:0016607, GO:0005634, GO:0000785, nuclear speck, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0048665, GO:0042551, GO:0030154, GO:0010628, GO:0006357, neuron fate specification, neuron maturation, cell differentiation, positive regulation of gene expression, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000163499 chr2 218990189 218993421 - CRYBA2 protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]. 1412 GO:0005575, cellular_component, GO:0042802, GO:0005515, GO:0005212, GO:0003674, identical protein binding, protein binding, structural constituent of eye lens, molecular_function, GO:0008150, GO:0007601, GO:0002088, biological_process, visual perception, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000163501 chr2 219054420 219060467 - IHH protein_coding This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]. 3549 GO:0031012, GO:0005886, GO:0005615, extracellular matrix, plasma membrane, extracellular space, GO:0008233, GO:0005515, GO:0005509, GO:0005509, GO:0005113, GO:0005113, peptidase activity, protein binding, calcium ion binding, calcium ion binding, patched binding, patched binding, GO:0097421, GO:0090136, GO:0072498, GO:0061053, GO:0060323, GO:0060220, GO:0060135, GO:0050679, GO:0048745, GO:0048666, GO:0048596, GO:0048557, GO:0048469, GO:0048074, GO:0046639, GO:0046638, GO:0045944, GO:0045880, GO:0045453, GO:0043066, GO:0042733, GO:0040008, GO:0035988, GO:0035264, GO:0033089, GO:0033088, GO:0033085, GO:0032967, GO:0032355, GO:0031016, GO:0030704, GO:0016540, GO:0016539, GO:0010468, GO:0009880, GO:0009612, GO:0007267, GO:0007224, GO:0007224, GO:0006029, GO:0003413, GO:0003406, GO:0003382, GO:0002053, GO:0001947, GO:0001708, GO:0001701, GO:0001649, GO:0001569, GO:0001501, liver regeneration, epithelial cell-cell adhesion, embryonic skeletal joint development, somite development, head morphogenesis, camera-type eye photoreceptor cell fate commitment, maternal process involved in female pregnancy, positive regulation of epithelial cell proliferation, smooth muscle tissue development, neuron development, embryonic camera-type eye morphogenesis, embryonic digestive tract morphogenesis, cell maturation, negative regulation of eye pigmentation, negative regulation of alpha-beta T cell differentiation, positive regulation of alpha-beta T cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of smoothened signaling pathway, bone resorption, negative regulation of apoptotic process, embryonic digit morphogenesis, regulation of growth, chondrocyte proliferation, multicellular organism growth, positive regulation of T cell differentiation in thymus, negative regulation of immature T cell proliferation in thymus, negative regulation of T cell differentiation in thymus, positive regulation of collagen biosynthetic process, response to estradiol, pancreas development, vitelline membrane formation, protein autoprocessing, intein-mediated protein splicing, regulation of gene expression, embryonic pattern specification, response to mechanical stimulus, cell-cell signaling, smoothened signaling pathway, smoothened signaling pathway, proteoglycan metabolic process, chondrocyte differentiation involved in endochondral bone morphogenesis, retinal pigment epithelium development, epithelial cell morphogenesis, positive regulation of mesenchymal cell proliferation, heart looping, cell fate specification, in utero embryonic development, osteoblast differentiation, branching involved in blood vessel morphogenesis, skeletal system development, 1 0 0 0 0 0 0 2 0 ENSG00000163507 chr3 108549869 108589644 - CIP2A protein_coding 57650 GO:0016021, GO:0005886, GO:0005829, GO:0005737, integral component of membrane, plasma membrane, cytosol, cytoplasm, GO:0045296, GO:0042803, GO:0005515, cadherin binding, protein homodimerization activity, protein binding, GO:2000179, GO:0007283, positive regulation of neural precursor cell proliferation, spermatogenesis, 7 1 7 18 11 9 14 3 10 ENSG00000163508 chr3 27715949 27722711 - EOMES protein_coding This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 8320 GO:0000785, chromatin, GO:1990837, GO:0043565, GO:0003682, GO:0003677, GO:0001102, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, chromatin binding, DNA binding, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060809, GO:0060706, GO:0045944, GO:0045893, GO:0043433, GO:0035914, GO:0032609, GO:0021895, GO:0021796, GO:0021772, GO:0019827, GO:0010002, GO:0007420, GO:0006357, GO:0002302, GO:0002302, GO:0002250, GO:0001947, GO:0001829, GO:0001714, GO:0001708, GO:0001707, GO:0001707, GO:0001706, GO:0000122, mesodermal to mesenchymal transition involved in gastrulation, cell differentiation involved in embryonic placenta development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, skeletal muscle cell differentiation, interferon-gamma production, cerebral cortex neuron differentiation, cerebral cortex regionalization, olfactory bulb development, stem cell population maintenance, cardioblast differentiation, brain development, regulation of transcription by RNA polymerase II, CD8-positive, alpha-beta T cell differentiation involved in immune response, CD8-positive, alpha-beta T cell differentiation involved in immune response, adaptive immune response, heart looping, trophectodermal cell differentiation, endodermal cell fate specification, cell fate specification, mesoderm formation, mesoderm formation, endoderm formation, negative regulation of transcription by RNA polymerase II, 36 14 158 43 14 97 45 18 108 ENSG00000163510 chr2 179944876 180007113 - CWC22 protein_coding 57703 GO:0071013, GO:0071013, GO:0071007, GO:0071006, GO:0071005, GO:0016607, GO:0005829, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, U2-type precatalytic spliceosome, nuclear speck, cytosol, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0048024, GO:0000398, GO:0000398, GO:0000398, GO:0000398, regulation of mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 840 606 1148 330 385 315 244 270 192 ENSG00000163512 chr3 28315003 28349127 - AZI2 protein_coding AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008]. 64343 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0097028, GO:0044565, GO:0042110, GO:0032640, GO:0032635, GO:0032609, GO:0032607, GO:0016032, GO:0007249, GO:0000278, dendritic cell differentiation, dendritic cell proliferation, T cell activation, tumor necrosis factor production, interleukin-6 production, interferon-gamma production, interferon-alpha production, viral process, I-kappaB kinase/NF-kappaB signaling, mitotic cell cycle, 209 215 317 285 263 379 294 219 254 ENSG00000163513 chr3 30606502 30694142 + TGFBR2 protein_coding The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]. 7048 GO:0045121, GO:0043235, GO:0043235, GO:0016021, GO:0009897, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, membrane raft, receptor complex, receptor complex, integral component of membrane, external side of plasma membrane, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0050431, GO:0050431, GO:0050431, GO:0050431, GO:0048185, GO:0046872, GO:0046332, GO:0046332, GO:0034713, GO:0034713, GO:0031435, GO:0017002, GO:0005539, GO:0005524, GO:0005515, GO:0005026, GO:0005024, GO:0005024, GO:0005024, GO:0005024, GO:0004675, GO:0004674, transforming growth factor beta binding, transforming growth factor beta binding, transforming growth factor beta binding, transforming growth factor beta binding, activin binding, metal ion binding, SMAD binding, SMAD binding, type I transforming growth factor beta receptor binding, type I transforming growth factor beta receptor binding, mitogen-activated protein kinase kinase kinase binding, activin-activated receptor activity, glycosaminoglycan binding, ATP binding, protein binding, transforming growth factor beta receptor activity, type II, transforming growth factor beta-activated receptor activity, transforming growth factor beta-activated receptor activity, transforming growth factor beta-activated receptor activity, transforming growth factor beta-activated receptor activity, transmembrane receptor protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000563, GO:2000379, GO:1990428, GO:1990086, GO:1905317, GO:1905316, GO:1905315, GO:1905007, GO:0071363, GO:0070723, GO:0062009, GO:0060463, GO:0060443, GO:0060440, GO:0060434, GO:0060412, GO:0060389, GO:0060044, GO:0051138, GO:0048701, GO:0048661, GO:0048565, GO:0048545, GO:0045766, GO:0043627, GO:0043415, GO:0043011, GO:0042493, GO:0042127, GO:0042060, GO:0035162, GO:0032924, GO:0032147, GO:0031100, GO:0030512, GO:0018107, GO:0018105, GO:0010718, GO:0010634, GO:0010468, GO:0009749, GO:0009612, GO:0008284, GO:0007584, GO:0007568, GO:0007566, GO:0007507, GO:0007507, GO:0007420, GO:0007369, GO:0007224, GO:0007219, GO:0007182, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0006915, GO:0006898, GO:0006468, GO:0006468, GO:0003430, GO:0003274, GO:0003214, GO:0003186, GO:0003181, GO:0003151, GO:0003149, GO:0003148, GO:0002666, GO:0002663, GO:0002651, GO:0002088, GO:0002053, GO:0001947, GO:0001701, GO:0001666, GO:0001570, GO:0001569, GO:0001568, positive regulation of CD4-positive, alpha-beta T cell proliferation, positive regulation of reactive oxygen species metabolic process, miRNA transport, lens fiber cell apoptotic process, inferior endocardial cushion morphogenesis, superior endocardial cushion morphogenesis, cell proliferation involved in endocardial cushion morphogenesis, positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, cellular response to growth factor stimulus, response to cholesterol, secondary palate development, lung lobe morphogenesis, mammary gland morphogenesis, trachea formation, bronchus morphogenesis, ventricular septum morphogenesis, pathway-restricted SMAD protein phosphorylation, negative regulation of cardiac muscle cell proliferation, positive regulation of NK T cell differentiation, embryonic cranial skeleton morphogenesis, positive regulation of smooth muscle cell proliferation, digestive tract development, response to steroid hormone, positive regulation of angiogenesis, response to estrogen, positive regulation of skeletal muscle tissue regeneration, myeloid dendritic cell differentiation, response to drug, regulation of cell population proliferation, wound healing, embryonic hemopoiesis, activin receptor signaling pathway, activation of protein kinase activity, animal organ regeneration, negative regulation of transforming growth factor beta receptor signaling pathway, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial cell migration, regulation of gene expression, response to glucose, response to mechanical stimulus, positive regulation of cell population proliferation, response to nutrient, aging, embryo implantation, heart development, heart development, brain development, gastrulation, smoothened signaling pathway, Notch signaling pathway, common-partner SMAD protein phosphorylation, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, apoptotic process, receptor-mediated endocytosis, protein phosphorylation, protein phosphorylation, growth plate cartilage chondrocyte growth, endocardial cushion fusion, cardiac left ventricle morphogenesis, tricuspid valve morphogenesis, atrioventricular valve morphogenesis, outflow tract morphogenesis, membranous septum morphogenesis, outflow tract septum morphogenesis, positive regulation of T cell tolerance induction, positive regulation of B cell tolerance induction, positive regulation of tolerance induction to self antigen, lens development in camera-type eye, positive regulation of mesenchymal cell proliferation, heart looping, in utero embryonic development, response to hypoxia, vasculogenesis, branching involved in blood vessel morphogenesis, blood vessel development, 3592 3669 3976 2003 3214 3146 2415 2683 2652 ENSG00000163515 chr3 108743424 108757384 - RETNLB protein_coding 84666 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0005179, GO:0003674, hormone activity, molecular_function, GO:0050673, GO:0007165, epithelial cell proliferation, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000163516 chr2 219229757 219236669 + ANKZF1 protein_coding 55139 GO:0016020, GO:0005737, membrane, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0070301, GO:0030433, cellular response to hydrogen peroxide, ubiquitin-dependent ERAD pathway, 345 390 458 365 466 339 367 331 333 ENSG00000163517 chr3 13479724 13506424 + HDAC11 protein_coding This gene encodes a class IV histone deacetylase. The encoded protein is localized to the nucleus and may be involved in regulating the expression of interleukin 10. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009]. 79885 GO:0005886, GO:0005634, GO:0000118, plasma membrane, nucleus, histone deacetylase complex, GO:0032041, GO:0008134, GO:0005515, GO:0004407, NAD-dependent histone deacetylase activity (H3-K14 specific), transcription factor binding, protein binding, histone deacetylase activity, GO:0070932, GO:0016575, GO:0014003, GO:0006325, histone H3 deacetylation, histone deacetylation, oligodendrocyte development, chromatin organization, 10 1 14 10 7 18 3 8 5 ENSG00000163518 chr1 157573749 157598080 - FCRL4 protein_coding This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009]. 83417 GO:0009986, GO:0005887, cell surface, integral component of plasma membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0007166, GO:0002250, cell surface receptor signaling pathway, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000163519 chr3 108822698 108855005 + TRAT1 protein_coding 50852 GO:0042101, GO:0005887, GO:0005886, GO:0005886, T cell receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005068, protein binding, transmembrane receptor protein tyrosine kinase adaptor activity, GO:0051897, GO:0051051, GO:0050862, GO:0050852, GO:0050850, GO:0007169, GO:0007165, GO:0006968, GO:0002250, GO:0001920, positive regulation of protein kinase B signaling, negative regulation of transport, positive regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, positive regulation of calcium-mediated signaling, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, cellular defense response, adaptive immune response, negative regulation of receptor recycling, 157 64 219 232 57 201 195 49 138 ENSG00000163520 chr3 13549131 13638422 + FBLN2 protein_coding This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 2199 GO:1903561, GO:0062023, GO:0062023, GO:0031012, GO:0005576, GO:0005576, extracellular vesicle, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular region, extracellular region, GO:0050840, GO:0030023, GO:0030023, GO:0005515, GO:0005509, GO:0005201, extracellular matrix binding, extracellular matrix constituent conferring elasticity, extracellular matrix constituent conferring elasticity, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0030198, GO:0010811, extracellular matrix organization, positive regulation of cell-substrate adhesion, 0 1 3 5 0 0 0 2 3 ENSG00000163521 chr2 219236606 219245478 - GLB1L protein_coding 79411 GO:0005773, GO:0005576, vacuole, extracellular region, GO:0004565, beta-galactosidase activity, GO:0005975, carbohydrate metabolic process, 55 81 80 47 77 74 58 56 53 ENSG00000163527 chr3 31532638 31637622 + STT3B protein_coding The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]. 201595 GO:0034998, GO:0032991, GO:0016021, GO:0016020, GO:0008250, GO:0008250, GO:0005783, oligosaccharyltransferase I complex, protein-containing complex, integral component of membrane, membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, endoplasmic reticulum, GO:0046872, GO:0005515, GO:0004579, GO:0004579, GO:0004579, metal ion binding, protein binding, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, GO:0043687, GO:0043687, GO:0043686, GO:0030433, GO:0018279, GO:0018279, GO:0018279, GO:0006986, GO:0006516, GO:0006487, post-translational protein modification, post-translational protein modification, co-translational protein modification, ubiquitin-dependent ERAD pathway, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, response to unfolded protein, glycoprotein catabolic process, protein N-linked glycosylation, 820 876 1278 859 863 971 809 551 725 ENSG00000163528 chr3 14112077 14124870 - CHCHD4 protein_coding CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]. 131474 GO:0005758, GO:0005758, GO:0005739, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrion, GO:0015035, GO:0015035, GO:0015035, GO:0005515, protein disulfide oxidoreductase activity, protein disulfide oxidoreductase activity, protein disulfide oxidoreductase activity, protein binding, GO:0051084, GO:0045041, GO:0045041, GO:0033108, GO:0022417, GO:0022417, GO:0018171, 'de novo' posttranslational protein folding, protein import into mitochondrial intermembrane space, protein import into mitochondrial intermembrane space, mitochondrial respiratory chain complex assembly, protein maturation by protein folding, protein maturation by protein folding, peptidyl-cysteine oxidation, 13 15 21 10 14 18 19 15 5 ENSG00000163530 chr3 109293788 109316517 - DPPA2 protein_coding 151871 GO:0005654, nucleoplasm, GO:0005515, GO:0003682, protein binding, chromatin binding, 0 0 0 0 0 0 0 0 0 ENSG00000163531 chr1 204828651 205022822 + NFASC protein_coding This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]. 23114 GO:0101003, GO:0097454, GO:0043194, GO:0033270, GO:0033268, GO:0033268, GO:0033010, GO:0030425, GO:0005925, GO:0005887, GO:0005886, GO:0005886, ficolin-1-rich granule membrane, Schwann cell microvillus, axon initial segment, paranode region of axon, node of Ranvier, node of Ranvier, paranodal junction, dendrite, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0086080, GO:0019904, GO:0005515, protein binding involved in heterotypic cell-cell adhesion, protein domain specific binding, protein binding, GO:0072659, GO:0071205, GO:0050808, GO:0045162, GO:0043312, GO:0042552, GO:0034113, GO:0030913, GO:0019226, GO:0007422, GO:0007411, GO:0002175, protein localization to plasma membrane, protein localization to juxtaparanode region of axon, synapse organization, clustering of voltage-gated sodium channels, neutrophil degranulation, myelination, heterotypic cell-cell adhesion, paranodal junction assembly, transmission of nerve impulse, peripheral nervous system development, axon guidance, protein localization to paranode region of axon, 2 8 10 14 19 22 16 9 14 ENSG00000163534 chr1 157794403 157820105 - FCRL1 protein_coding This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. 115350 GO:0009986, GO:0005887, cell surface, integral component of plasma membrane, GO:0015026, GO:0004888, coreceptor activity, transmembrane signaling receptor activity, GO:0042113, GO:0007166, B cell activation, cell surface receptor signaling pathway, 13 45 29 45 74 58 48 66 45 ENSG00000163535 chr2 200510008 200583782 + SGO2 protein_coding 151246 GO:0030892, GO:0016604, GO:0005829, GO:0005654, GO:0000779, GO:0000777, GO:0000776, GO:0000775, mitotic cohesin complex, nuclear body, cytosol, nucleoplasm, condensed chromosome, centromeric region, condensed chromosome kinetochore, kinetochore, chromosome, centromeric region, GO:0005515, protein binding, GO:0051754, GO:0051301, GO:0051177, GO:0045143, GO:0000070, meiotic sister chromatid cohesion, centromeric, cell division, meiotic sister chromatid cohesion, homologous chromosome segregation, mitotic sister chromatid segregation, 11 23 30 22 22 20 5 8 26 ENSG00000163536 chr3 167735243 167825568 + SERPINI1 protein_coding This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 5274 GO:0070062, GO:0060205, GO:0043204, GO:0043025, GO:0034774, GO:0005615, GO:0005615, extracellular exosome, cytoplasmic vesicle lumen, perikaryon, neuronal cell body, secretory granule lumen, extracellular space, extracellular space, GO:0004867, GO:0004867, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0030155, GO:0010976, GO:0010951, GO:0007422, GO:0007417, regulation of cell adhesion, positive regulation of neuron projection development, negative regulation of endopeptidase activity, peripheral nervous system development, central nervous system development, 4 4 0 6 5 18 5 0 7 ENSG00000163539 chr3 33496245 33718356 - CLASP2 protein_coding 23122 GO:0072686, GO:0045180, GO:0045180, GO:0032587, GO:0031252, GO:0016020, GO:0005938, GO:0005925, GO:0005886, GO:0005881, GO:0005881, GO:0005876, GO:0005874, GO:0005874, GO:0005829, GO:0005829, GO:0005828, GO:0005815, GO:0005802, GO:0005794, GO:0005737, GO:0000777, GO:0000776, mitotic spindle, basal cortex, basal cortex, ruffle membrane, cell leading edge, membrane, cell cortex, focal adhesion, plasma membrane, cytoplasmic microtubule, cytoplasmic microtubule, spindle microtubule, microtubule, microtubule, cytosol, cytosol, kinetochore microtubule, microtubule organizing center, trans-Golgi network, Golgi apparatus, cytoplasm, condensed chromosome kinetochore, kinetochore, GO:0051010, GO:0008017, GO:0008017, GO:0005515, GO:0002162, microtubule plus-end binding, microtubule binding, microtubule binding, protein binding, dystroglycan binding, GO:1904261, GO:1903690, GO:0090307, GO:0090091, GO:0072659, GO:0051895, GO:0051497, GO:0051301, GO:0045921, GO:0040001, GO:0034453, GO:0032886, GO:0031110, GO:0031110, GO:0031023, GO:0010717, GO:0010634, GO:0010470, GO:0010458, GO:0007163, GO:0007052, GO:0007030, GO:0007026, GO:0007020, GO:0006903, GO:0000226, GO:0000226, positive regulation of basement membrane assembly involved in embryonic body morphogenesis, negative regulation of wound healing, spreading of epidermal cells, mitotic spindle assembly, positive regulation of extracellular matrix disassembly, protein localization to plasma membrane, negative regulation of focal adhesion assembly, negative regulation of stress fiber assembly, cell division, positive regulation of exocytosis, establishment of mitotic spindle localization, microtubule anchoring, regulation of microtubule-based process, regulation of microtubule polymerization or depolymerization, regulation of microtubule polymerization or depolymerization, microtubule organizing center organization, regulation of epithelial to mesenchymal transition, positive regulation of epithelial cell migration, regulation of gastrulation, exit from mitosis, establishment or maintenance of cell polarity, mitotic spindle organization, Golgi organization, negative regulation of microtubule depolymerization, microtubule nucleation, vesicle targeting, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 160 152 216 226 134 241 167 99 181 ENSG00000163541 chr2 84423523 84460045 - SUCLG1 protein_coding This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]. 8802 GO:0009361, GO:0005886, GO:0005829, GO:0005759, GO:0005739, GO:0005739, succinate-CoA ligase complex (ADP-forming), plasma membrane, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0004776, GO:0004775, GO:0003723, GO:0000166, succinate-CoA ligase (GDP-forming) activity, succinate-CoA ligase (ADP-forming) activity, RNA binding, nucleotide binding, GO:0006099, GO:0006099, GO:0006099, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, 169 103 180 146 146 193 116 112 132 ENSG00000163545 chr1 205302059 205321791 - NUAK2 protein_coding 81788 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0043066, GO:0042149, GO:0042149, GO:0035556, GO:0030036, GO:0006915, GO:0006468, GO:0006468, negative regulation of apoptotic process, cellular response to glucose starvation, cellular response to glucose starvation, intracellular signal transduction, actin cytoskeleton organization, apoptotic process, protein phosphorylation, protein phosphorylation, 1225 1180 2423 385 823 891 347 657 849 ENSG00000163554 chr1 158610706 158686715 - SPTA1 protein_coding This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]. 6708 GO:0032437, GO:0031235, GO:0030424, GO:0015629, GO:0014731, GO:0008091, GO:0005829, cuticular plate, intrinsic component of the cytoplasmic side of the plasma membrane, axon, actin cytoskeleton, spectrin-associated cytoskeleton, spectrin, cytosol, GO:0051015, GO:0005515, GO:0005509, GO:0005200, actin filament binding, protein binding, calcium ion binding, structural constituent of cytoskeleton, GO:0051693, GO:0042102, GO:0032092, GO:0030097, GO:0008360, GO:0007411, GO:0007015, GO:0007009, GO:0006888, GO:0006779, GO:0002260, GO:0000165, actin filament capping, positive regulation of T cell proliferation, positive regulation of protein binding, hemopoiesis, regulation of cell shape, axon guidance, actin filament organization, plasma membrane organization, endoplasmic reticulum to Golgi vesicle-mediated transport, porphyrin-containing compound biosynthetic process, lymphocyte homeostasis, MAPK cascade, 1 0 0 0 0 0 0 0 0 ENSG00000163558 chr3 170222365 170305981 + PRKCI protein_coding This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008]. 5584 GO:0098978, GO:0098685, GO:0070062, GO:0045171, GO:0043220, GO:0031252, GO:0016324, GO:0015630, GO:0005923, GO:0005886, GO:0005829, GO:0005829, GO:0005768, GO:0005654, GO:0005634, GO:0000139, glutamatergic synapse, Schaffer collateral - CA1 synapse, extracellular exosome, intercellular bridge, Schmidt-Lanterman incisure, cell leading edge, apical plasma membrane, microtubule cytoskeleton, bicellular tight junction, plasma membrane, cytosol, cytosol, endosome, nucleoplasm, nucleus, Golgi membrane, GO:0046872, GO:0005543, GO:0005524, GO:0005515, GO:0004698, GO:0004697, GO:0004674, GO:0004674, GO:0004674, GO:0004672, metal ion binding, phospholipid binding, ATP binding, protein binding, calcium-dependent protein kinase C activity, protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000353, GO:1903078, GO:0099072, GO:0070830, GO:0070555, GO:0061024, GO:0060252, GO:0051092, GO:0048194, GO:0046903, GO:0046326, GO:0045747, GO:0045216, GO:0045197, GO:0043524, GO:0043066, GO:0042462, GO:0035556, GO:0035089, GO:0034351, GO:0032869, GO:0018105, GO:0018105, GO:0016477, GO:0016192, GO:0010976, GO:0007015, GO:0007010, GO:0006612, GO:0006468, positive regulation of endothelial cell apoptotic process, positive regulation of protein localization to plasma membrane, regulation of postsynaptic membrane neurotransmitter receptor levels, bicellular tight junction assembly, response to interleukin-1, membrane organization, positive regulation of glial cell proliferation, positive regulation of NF-kappaB transcription factor activity, Golgi vesicle budding, secretion, positive regulation of glucose import, positive regulation of Notch signaling pathway, cell-cell junction organization, establishment or maintenance of epithelial cell apical/basal polarity, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, eye photoreceptor cell development, intracellular signal transduction, establishment of apical/basal cell polarity, negative regulation of glial cell apoptotic process, cellular response to insulin stimulus, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, cell migration, vesicle-mediated transport, positive regulation of neuron projection development, actin filament organization, cytoskeleton organization, protein targeting to membrane, protein phosphorylation, 61 34 119 70 48 61 61 29 56 ENSG00000163563 chr1 158831317 158849506 + MNDA protein_coding The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008]. 4332 GO:1904813, GO:0070062, GO:0035578, GO:0005730, GO:0005730, GO:0005654, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, azurophil granule lumen, nucleolus, nucleolus, nucleoplasm, extracellular region, GO:0005515, GO:0003690, protein binding, double-stranded DNA binding, GO:0050853, GO:0043312, GO:0043065, GO:0035458, GO:0032731, GO:0030889, GO:0006974, GO:0006968, GO:0002218, B cell receptor signaling pathway, neutrophil degranulation, positive regulation of apoptotic process, cellular response to interferon-beta, positive regulation of interleukin-1 beta production, negative regulation of B cell proliferation, cellular response to DNA damage stimulus, cellular defense response, activation of innate immune response, 22971 20904 24566 5687 18256 10489 8912 18650 11443 ENSG00000163564 chr1 158930796 158977054 + PYHIN1 protein_coding The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 149628 GO:0032991, GO:0016607, GO:0005730, protein-containing complex, nuclear speck, nucleolus, GO:0031625, GO:0003690, ubiquitin protein ligase binding, double-stranded DNA binding, GO:2000060, GO:2000060, GO:1902164, GO:1900182, GO:0050821, GO:0045893, GO:0043388, GO:0035458, GO:0035457, GO:0032731, GO:0031648, GO:0007049, GO:0002218, positive regulation of ubiquitin-dependent protein catabolic process, positive regulation of ubiquitin-dependent protein catabolic process, positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, positive regulation of protein localization to nucleus, protein stabilization, positive regulation of transcription, DNA-templated, positive regulation of DNA binding, cellular response to interferon-beta, cellular response to interferon-alpha, positive regulation of interleukin-1 beta production, protein destabilization, cell cycle, activation of innate immune response, 40 24 69 217 70 360 178 67 275 ENSG00000163565 chr1 158999968 159055155 + IFI16 protein_coding This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]. 3428 GO:0016607, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005730, GO:0005730, GO:0005654, GO:0005634, nuclear speck, membrane, cytosol, cytosol, cytosol, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0008134, GO:0005515, GO:0003723, GO:0003690, GO:0003690, GO:0001227, GO:0000978, transcription factor binding, protein binding, RNA binding, double-stranded DNA binding, double-stranded DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000117, GO:0097202, GO:0072332, GO:0071479, GO:0051607, GO:0051607, GO:0045944, GO:0045944, GO:0045892, GO:0045824, GO:0045087, GO:0045071, GO:0043392, GO:0042771, GO:0042149, GO:0040029, GO:0035458, GO:0032731, GO:0032731, GO:0032481, GO:0030224, GO:0030099, GO:0010506, GO:0006954, GO:0006914, GO:0002218, GO:0002218, GO:0001819, GO:0000122, GO:0000122, negative regulation of cysteine-type endopeptidase activity, activation of cysteine-type endopeptidase activity, intrinsic apoptotic signaling pathway by p53 class mediator, cellular response to ionizing radiation, defense response to virus, defense response to virus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of innate immune response, innate immune response, negative regulation of viral genome replication, negative regulation of DNA binding, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, cellular response to glucose starvation, regulation of gene expression, epigenetic, cellular response to interferon-beta, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 beta production, positive regulation of type I interferon production, monocyte differentiation, myeloid cell differentiation, regulation of autophagy, inflammatory response, autophagy, activation of innate immune response, activation of innate immune response, positive regulation of cytokine production, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1711 1224 2533 1251 1562 2009 1524 1267 1657 ENSG00000163568 chr1 159062484 159147096 - AIM2 protein_coding AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]. 9447 GO:0097169, GO:0097169, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, AIM2 inflammasome complex, AIM2 inflammasome complex, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, GO:0042802, GO:0005515, GO:0003690, GO:0003690, identical protein binding, protein binding, double-stranded DNA binding, double-stranded DNA binding, GO:2001056, GO:1904270, GO:0070269, GO:0051092, GO:0045087, GO:0044546, GO:0035690, GO:0035458, GO:0033209, GO:0032731, GO:0032611, GO:0032088, GO:0006955, GO:0006954, GO:0006915, GO:0002230, GO:0002218, GO:0002218, positive regulation of cysteine-type endopeptidase activity, pyroptosome complex assembly, pyroptosis, positive regulation of NF-kappaB transcription factor activity, innate immune response, NLRP3 inflammasome complex assembly, cellular response to drug, cellular response to interferon-beta, tumor necrosis factor-mediated signaling pathway, positive regulation of interleukin-1 beta production, interleukin-1 beta production, negative regulation of NF-kappaB transcription factor activity, immune response, inflammatory response, apoptotic process, positive regulation of defense response to virus by host, activation of innate immune response, activation of innate immune response, 85 90 121 34 85 76 42 63 73 ENSG00000163576 chr3 19879472 19947025 - EFHB protein_coding 151651 GO:0005737, cytoplasm, GO:0061891, GO:0005515, calcium ion sensor activity, protein binding, GO:2001256, GO:0070884, GO:0032091, GO:0006816, regulation of store-operated calcium entry, regulation of calcineurin-NFAT signaling cascade, negative regulation of protein binding, calcium ion transport, 9 0 2 12 1 5 4 1 2 ENSG00000163577 chr3 170888415 170908693 - EIF5A2 protein_coding 56648 GO:0043231, GO:0005829, GO:0005789, GO:0005643, intracellular membrane-bounded organelle, cytosol, endoplasmic reticulum membrane, nuclear pore, GO:0043022, GO:0005515, GO:0003746, ribosome binding, protein binding, translation elongation factor activity, GO:0051028, GO:0045905, GO:0045901, GO:0015031, GO:0010509, GO:0008284, GO:0007283, GO:0006414, mRNA transport, positive regulation of translational termination, positive regulation of translational elongation, protein transport, polyamine homeostasis, positive regulation of cell population proliferation, spermatogenesis, translational elongation, 11 15 32 39 15 56 48 15 37 ENSG00000163581 chr3 170996348 171026750 - SLC2A2 protein_coding This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 6514 GO:0016324, GO:0016020, GO:0005911, GO:0005903, GO:0005887, GO:0005886, GO:0005886, GO:0005737, apical plasma membrane, membrane, cell-cell junction, brush border, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0055056, GO:0033300, GO:0005355, GO:0005353, D-glucose transmembrane transporter activity, dehydroascorbic acid transmembrane transporter activity, glucose transmembrane transporter activity, fructose transmembrane transporter activity, GO:1904659, GO:1904659, GO:0106001, GO:0070837, GO:0050796, GO:0015755, GO:0008645, GO:0005975, glucose transmembrane transport, glucose transmembrane transport, intestinal hexose absorption, dehydroascorbic acid transport, regulation of insulin secretion, fructose transmembrane transport, hexose transmembrane transport, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000163584 chr3 170864875 170870483 - RPL22L1 protein_coding 200916 GO:0005840, ribosome, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0002181, cytoplasmic translation, 39 22 38 418 319 321 296 221 175 ENSG00000163586 chr2 88122982 88128116 - FABP1 protein_coding This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]. 2168 GO:0070062, GO:0045179, GO:0032991, GO:0005829, GO:0005829, GO:0005782, GO:0005654, GO:0005654, extracellular exosome, apical cortex, protein-containing complex, cytosol, cytosol, peroxisomal matrix, nucleoplasm, nucleoplasm, GO:0032052, GO:0016209, GO:0008144, GO:0005543, GO:0005515, GO:0005504, GO:0005324, GO:0003682, bile acid binding, antioxidant activity, drug binding, phospholipid binding, protein binding, fatty acid binding, long-chain fatty acid transporter activity, chromatin binding, GO:0098869, GO:0071456, GO:0070301, GO:0051345, GO:0050892, GO:0043154, GO:0043066, GO:0032000, GO:0019433, GO:0019216, GO:0015909, cellular oxidant detoxification, cellular response to hypoxia, cellular response to hydrogen peroxide, positive regulation of hydrolase activity, intestinal absorption, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of fatty acid beta-oxidation, triglyceride catabolic process, regulation of lipid metabolic process, long-chain fatty acid transport, 0 0 0 0 0 0 0 0 0 ENSG00000163590 chr3 160755602 161078907 + PPM1L protein_coding The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 151742 GO:0070062, GO:0016021, GO:0005789, extracellular exosome, integral component of membrane, endoplasmic reticulum membrane, GO:0106307, GO:0106306, GO:0046872, GO:0004724, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, magnesium-dependent protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:0030148, GO:0007178, GO:0006470, GO:0006470, GO:0000165, sphingolipid biosynthetic process, transmembrane receptor protein serine/threonine kinase signaling pathway, protein dephosphorylation, protein dephosphorylation, MAPK cascade, 33 30 38 52 41 27 28 25 35 ENSG00000163596 chr2 202773150 202871985 - ICA1L protein_coding 130026 GO:0005794, GO:0001669, Golgi apparatus, acrosomal vesicle, GO:0019904, GO:0005515, protein domain specific binding, protein binding, GO:0051049, GO:0007286, regulation of transport, spermatid development, 9 10 13 25 25 37 41 10 18 ENSG00000163597 chr17 76557766 76565348 + SNHG16 processed_transcript 100507246 229 328 392 324 326 446 337 323 402 ENSG00000163599 chr2 203867771 203873965 + CTLA4 protein_coding This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]. 1493 GO:0098636, GO:0048471, GO:0045334, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005794, protein complex involved in cell adhesion, perinuclear region of cytoplasm, clathrin-coated endocytic vesicle, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, GO:0005515, protein binding, GO:0050853, GO:0050853, GO:0050852, GO:0045590, GO:0045590, GO:0045589, GO:0043065, GO:0042129, GO:0031295, GO:0030889, GO:0006974, GO:0006955, GO:0002250, B cell receptor signaling pathway, B cell receptor signaling pathway, T cell receptor signaling pathway, negative regulation of regulatory T cell differentiation, negative regulation of regulatory T cell differentiation, regulation of regulatory T cell differentiation, positive regulation of apoptotic process, regulation of T cell proliferation, T cell costimulation, negative regulation of B cell proliferation, cellular response to DNA damage stimulus, immune response, adaptive immune response, 15 19 16 47 12 34 61 29 13 ENSG00000163600 chr2 203936748 203961577 + ICOS protein_coding The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]. 29851 GO:0009897, GO:0005887, GO:0005886, GO:0005576, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0005515, protein binding, GO:0098609, GO:0051897, GO:0031295, GO:0031295, GO:0006955, GO:0002517, cell-cell adhesion, positive regulation of protein kinase B signaling, T cell costimulation, T cell costimulation, immune response, T cell tolerance induction, 71 30 138 111 26 84 111 31 65 ENSG00000163602 chr3 72371825 72446621 - RYBP protein_coding 23429 GO:0031519, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, PcG protein complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003714, GO:0003712, GO:0003677, metal ion binding, protein binding, transcription corepressor activity, transcription coregulator activity, DNA binding, GO:0070317, GO:0045893, GO:0043065, GO:0035518, GO:0032435, GO:0007275, GO:0006915, GO:0006355, GO:0000122, negative regulation of G0 to G1 transition, positive regulation of transcription, DNA-templated, positive regulation of apoptotic process, histone H2A monoubiquitination, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, multicellular organism development, apoptotic process, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 2001 2068 2760 1538 1846 1497 1266 1245 1292 ENSG00000163605 chr3 72996785 73069199 + PPP4R2 protein_coding The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 151987 GO:0030289, GO:0030289, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein phosphatase 4 complex, protein phosphatase 4 complex, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0030674, GO:0019888, GO:0019888, GO:0005515, protein-macromolecule adaptor activity, protein phosphatase regulator activity, protein phosphatase regulator activity, protein binding, GO:0043666, GO:0010569, GO:0008380, GO:0006470, GO:0006464, GO:0006397, regulation of phosphoprotein phosphatase activity, regulation of double-strand break repair via homologous recombination, RNA splicing, protein dephosphorylation, cellular protein modification process, mRNA processing, 2532 1646 3727 722 1024 1266 895 774 1082 ENSG00000163606 chr3 112921209 112975122 - CD200R1 protein_coding This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 131450 GO:0043235, GO:0016021, GO:0009986, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005576, receptor complex, integral component of membrane, cell surface, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0140081, GO:0038023, GO:0019763, GO:0005515, glycosylated region protein binding, signaling receptor activity, immunoglobulin receptor activity, protein binding, GO:2000405, GO:1905522, GO:1901215, GO:0150079, GO:0150077, GO:0050776, GO:0038093, GO:0035556, GO:0034113, GO:0032715, GO:0016032, GO:0007165, negative regulation of T cell migration, negative regulation of macrophage migration, negative regulation of neuron death, negative regulation of neuroinflammatory response, regulation of neuroinflammatory response, regulation of immune response, Fc receptor signaling pathway, intracellular signal transduction, heterotypic cell-cell adhesion, negative regulation of interleukin-6 production, viral process, signal transduction, 21 27 54 36 19 26 37 10 24 ENSG00000163607 chr3 112990918 113015060 + GTPBP8 protein_coding 29083 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0046872, GO:0005525, GO:0005515, metal ion binding, GTP binding, protein binding, 22 18 47 32 15 34 32 18 40 ENSG00000163608 chr3 113002440 113019861 - NEPRO protein_coding 25871 GO:0005730, GO:0005634, GO:0005634, nucleolus, nucleus, nucleus, GO:0045747, GO:0045747, GO:0045665, positive regulation of Notch signaling pathway, positive regulation of Notch signaling pathway, negative regulation of neuron differentiation, 198 159 343 191 127 193 178 97 162 ENSG00000163611 chr3 113442718 113515187 - SPICE1 protein_coding 152185 GO:0005819, GO:0005819, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005737, spindle, spindle, centriole, centriole, centrosome, centrosome, cytoplasm, GO:0005515, protein binding, GO:0090307, GO:0090307, GO:0051310, GO:0051310, GO:0051301, GO:0046599, GO:0046599, mitotic spindle assembly, mitotic spindle assembly, metaphase plate congression, metaphase plate congression, cell division, regulation of centriole replication, regulation of centriole replication, 4 12 9 6 11 19 13 8 1 ENSG00000163612 chr4 9153296 9165451 + FAM86KP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000163617 chr3 113964137 114056613 - CCDC191 protein_coding 57577 82 73 58 132 111 109 99 61 74 ENSG00000163618 chr3 62398346 62875389 - CADPS protein_coding This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008]. 8618 GO:0099012, GO:0098978, GO:0098793, GO:0005829, neuronal dense core vesicle membrane, glutamatergic synapse, presynapse, cytosol, GO:0046872, GO:0019901, GO:0008289, GO:0005515, metal ion binding, protein kinase binding, lipid binding, protein binding, GO:1990504, GO:0045921, GO:0016079, GO:0015031, GO:0006887, dense core granule exocytosis, positive regulation of exocytosis, synaptic vesicle exocytosis, protein transport, exocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000163623 chr4 84491987 84498450 - NKX6-1 protein_coding In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]. 4825 GO:0070062, GO:0005634, GO:0000785, extracellular exosome, nucleus, chromatin, GO:0003682, GO:0001227, GO:0000981, GO:0000981, GO:0000978, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001222, GO:2000078, GO:0072560, GO:0071375, GO:0071345, GO:0051594, GO:0051091, GO:0048709, GO:0045944, GO:0045687, GO:0045686, GO:0045666, GO:0044342, GO:0042493, GO:0035094, GO:0032024, GO:0031016, GO:0030516, GO:0030154, GO:0009887, GO:0007224, GO:0006366, GO:0006357, GO:0001764, GO:0000122, regulation of neuron migration, positive regulation of type B pancreatic cell development, type B pancreatic cell maturation, cellular response to peptide hormone stimulus, cellular response to cytokine stimulus, detection of glucose, positive regulation of DNA-binding transcription factor activity, oligodendrocyte differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of glial cell differentiation, negative regulation of glial cell differentiation, positive regulation of neuron differentiation, type B pancreatic cell proliferation, response to drug, response to nicotine, positive regulation of insulin secretion, pancreas development, regulation of axon extension, cell differentiation, animal organ morphogenesis, smoothened signaling pathway, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, neuron migration, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000163624 chr4 84582979 84651338 + CDS1 protein_coding Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]. 1040 GO:0016021, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0004605, GO:0004142, protein binding, phosphatidate cytidylyltransferase activity, diacylglycerol cholinephosphotransferase activity, GO:0140042, GO:0045600, GO:0016024, GO:0016024, GO:0007602, GO:0007165, GO:0006661, GO:0006661, GO:0006657, lipid droplet formation, positive regulation of fat cell differentiation, CDP-diacylglycerol biosynthetic process, CDP-diacylglycerol biosynthetic process, phototransduction, signal transduction, phosphatidylinositol biosynthetic process, phosphatidylinositol biosynthetic process, CDP-choline pathway, 0 1 0 1 5 6 4 1 3 ENSG00000163625 chr4 84669610 84966391 - WDFY3 protein_coding This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]. 23001 GO:0097635, GO:0043204, GO:0034274, GO:0031965, GO:0030424, GO:0019898, GO:0016605, GO:0016234, GO:0005886, GO:0005829, GO:0005776, GO:0005776, GO:0005737, GO:0005730, GO:0005654, GO:0005635, extrinsic component of autophagosome membrane, perikaryon, Atg12-Atg5-Atg16 complex, nuclear membrane, axon, extrinsic component of membrane, PML body, inclusion body, plasma membrane, cytosol, autophagosome, autophagosome, cytoplasm, nucleolus, nucleoplasm, nuclear envelope, GO:0046872, GO:0005545, GO:0005515, GO:0003831, metal ion binding, 1-phosphatidylinositol binding, protein binding, beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity, GO:0035973, GO:0007275, aggrephagy, multicellular organism development, 6021 5938 8403 2622 3861 4171 3202 2646 3442 ENSG00000163626 chr4 73052362 73069755 - COX18 protein_coding This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 285521 GO:0031305, GO:0031305, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, GO:0032977, GO:0032977, GO:0032977, GO:0005515, membrane insertase activity, membrane insertase activity, membrane insertase activity, protein binding, GO:0051205, GO:0051204, GO:0033617, GO:0033617, GO:0032979, GO:0032979, GO:0008535, protein insertion into membrane, protein insertion into mitochondrial membrane, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, protein insertion into mitochondrial inner membrane from matrix, protein insertion into mitochondrial inner membrane from matrix, respiratory chain complex IV assembly, 40 27 64 29 37 47 33 21 49 ENSG00000163629 chr4 86594315 86815171 + PTPN13 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]. 5783 GO:0070062, GO:0044297, GO:0043005, GO:0030027, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, extracellular exosome, cell body, neuron projection, lamellipodium, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0036312, GO:0036312, GO:0005515, GO:0004725, GO:0004725, GO:0004725, phosphatidylinositol 3-kinase regulatory subunit binding, phosphatidylinositol 3-kinase regulatory subunit binding, protein binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0071345, GO:0035335, GO:0035335, GO:0014066, GO:0006661, GO:0006470, GO:0001933, cellular response to cytokine stimulus, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol biosynthetic process, protein dephosphorylation, negative regulation of protein phosphorylation, 13 2 12 18 5 20 18 6 2 ENSG00000163630 chr3 63228315 63616921 + SYNPR protein_coding 132204 GO:0043005, GO:0030672, GO:0016021, neuron projection, synaptic vesicle membrane, integral component of membrane, GO:0017075, GO:0005515, syntaxin-1 binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000163631 chr4 73397114 73421412 + ALB protein_coding This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]. 213 GO:0072562, GO:0070062, GO:0070062, GO:0032991, GO:0031093, GO:0005794, GO:0005788, GO:0005783, GO:0005737, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, extracellular exosome, protein-containing complex, platelet alpha granule lumen, Golgi apparatus, endoplasmic reticulum lumen, endoplasmic reticulum, cytoplasm, nucleus, extracellular space, extracellular space, extracellular region, extracellular region, GO:1903981, GO:0140272, GO:0051087, GO:0042802, GO:0030170, GO:0019825, GO:0016209, GO:0015643, GO:0008270, GO:0005515, GO:0005507, GO:0005504, GO:0005504, GO:0005504, GO:0003677, enterobactin binding, exogenous protein binding, chaperone binding, identical protein binding, pyridoxal phosphate binding, oxygen binding, antioxidant activity, toxic substance binding, zinc ion binding, protein binding, copper ion binding, fatty acid binding, fatty acid binding, fatty acid binding, DNA binding, GO:0098869, GO:0051659, GO:0044267, GO:0043687, GO:0043069, GO:0043066, GO:0034375, GO:0009267, GO:0006898, GO:0006810, GO:0002576, GO:0001895, cellular oxidant detoxification, maintenance of mitochondrion location, cellular protein metabolic process, post-translational protein modification, negative regulation of programmed cell death, negative regulation of apoptotic process, high-density lipoprotein particle remodeling, cellular response to starvation, receptor-mediated endocytosis, transport, platelet degranulation, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000163632 chr3 63819362 63848636 + C3orf49 protein_coding 132200 1 3 1 2 1 0 0 1 0 ENSG00000163633 chr4 86876205 86892422 - C4orf36 protein_coding 132989 0 0 0 0 0 0 0 0 0 ENSG00000163634 chr3 63833870 63863903 - THOC7 protein_coding 80145 GO:0016607, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000781, GO:0000445, GO:0000445, GO:0000347, GO:0000346, nuclear speck, cytosol, cytoplasm, nucleoplasm, nucleus, chromosome, telomeric region, THO complex part of transcription export complex, THO complex part of transcription export complex, THO complex, transcription export complex, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0046784, GO:0031124, GO:0008380, GO:0006406, GO:0006406, GO:0006406, GO:0006405, viral mRNA export from host cell nucleus, mRNA 3'-end processing, RNA splicing, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, 133 99 134 45 104 105 69 96 122 ENSG00000163635 chr3 63898399 64003453 + ATXN7 protein_coding The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 6314 GO:0016363, GO:0015630, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, nuclear matrix, microtubule cytoskeleton, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0045944, GO:0043569, GO:0042326, GO:0016579, GO:0016578, GO:0007601, GO:0007026, GO:0006997, GO:0000226, positive regulation of transcription by RNA polymerase II, negative regulation of insulin-like growth factor receptor signaling pathway, negative regulation of phosphorylation, protein deubiquitination, histone deubiquitination, visual perception, negative regulation of microtubule depolymerization, nucleus organization, microtubule cytoskeleton organization, 77 55 79 86 75 116 78 74 78 ENSG00000163636 chr3 64010549 64024010 - PSMD6 protein_coding This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]. 9861 GO:1904813, GO:0034774, GO:0022624, GO:0005838, GO:0005829, GO:0005654, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, secretory granule lumen, proteasome accessory complex, proteasome regulatory particle, cytosol, nucleoplasm, extracellular region, proteasome complex, GO:0030234, GO:0016887, GO:0005515, enzyme regulator activity, ATPase activity, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0050790, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0006508, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, regulation of catalytic activity, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, proteolysis, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 509 534 783 608 1169 1357 687 755 893 ENSG00000163637 chr3 64092242 64445476 - PRICKLE2 protein_coding This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]. 166336 GO:0031965, GO:0005737, nuclear membrane, cytoplasm, GO:0008270, zinc ion binding, GO:0060071, Wnt signaling pathway, planar cell polarity pathway, 0 0 0 0 0 0 0 2 0 ENSG00000163638 chr3 64515654 64688000 - ADAMTS9 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]. 56999 GO:0062023, GO:0043231, GO:0031012, GO:0031012, GO:0009986, GO:0005783, GO:0005615, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, extracellular matrix, extracellular matrix, cell surface, endoplasmic reticulum, extracellular space, GO:0008270, GO:0008237, GO:0004222, zinc ion binding, metallopeptidase activity, metalloendopeptidase activity, GO:1903671, GO:0090673, GO:0045636, GO:0035909, GO:0030198, GO:0030198, GO:0016192, GO:0015031, GO:0010596, GO:0009617, GO:0007275, GO:0006516, GO:0006508, GO:0003229, GO:0003179, negative regulation of sprouting angiogenesis, endothelial cell-matrix adhesion, positive regulation of melanocyte differentiation, aorta morphogenesis, extracellular matrix organization, extracellular matrix organization, vesicle-mediated transport, protein transport, negative regulation of endothelial cell migration, response to bacterium, multicellular organism development, glycoprotein catabolic process, proteolysis, ventricular cardiac muscle tissue development, heart valve morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000163644 chr4 88257620 88284769 - PPM1K protein_coding This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]. 152926 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0106307, GO:0106306, GO:0046872, GO:0005515, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, GO:0009083, GO:0006470, branched-chain amino acid catabolic process, protein dephosphorylation, 85 50 152 202 52 245 199 47 168 ENSG00000163645 chr3 150659885 150703971 - ERICH6 protein_coding 131831 0 1 0 0 0 0 1 3 0 ENSG00000163646 chr3 150926163 150972999 - CLRN1 protein_coding This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 7401 GO:0045178, GO:0032420, GO:0030140, GO:0030027, GO:0016021, GO:0005902, GO:0005886, GO:0005874, basal part of cell, stereocilium, trans-Golgi network transport vesicle, lamellipodium, integral component of membrane, microvillus, plasma membrane, microtubule, GO:0005515, protein binding, GO:0060088, GO:0050957, GO:0050957, GO:0050953, GO:0050896, GO:0048870, GO:0045494, GO:0010592, GO:0007605, GO:0007605, GO:0007601, GO:0007015, auditory receptor cell stereocilium organization, equilibrioception, equilibrioception, sensory perception of light stimulus, response to stimulus, cell motility, photoreceptor cell maintenance, positive regulation of lamellipodium assembly, sensory perception of sound, sensory perception of sound, visual perception, actin filament organization, 0 2 1 0 0 0 3 0 0 ENSG00000163655 chr3 155870536 155944026 + GMPS protein_coding In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]. 8833 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0016462, GO:0005524, GO:0003922, GO:0003921, GO:0003921, pyrophosphatase activity, ATP binding, GMP synthase (glutamine-hydrolyzing) activity, GMP synthase activity, GMP synthase activity, GO:0009168, GO:0009113, GO:0006541, GO:0006177, GO:0006177, GO:0006177, purine ribonucleoside monophosphate biosynthetic process, purine nucleobase biosynthetic process, glutamine metabolic process, GMP biosynthetic process, GMP biosynthetic process, GMP biosynthetic process, 41 26 106 105 79 139 106 44 99 ENSG00000163659 chr3 156673235 156706770 + TIPARP protein_coding This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 25976 GO:0005634, nucleus, GO:1990404, GO:0046872, GO:0003950, GO:0000987, protein ADP-ribosylase activity, metal ion binding, NAD+ ADP-ribosyltransferase activity, cis-regulatory region sequence-specific DNA binding, GO:1904612, GO:0140289, GO:0071407, GO:0070213, GO:0060325, GO:0060021, GO:0048745, GO:0048705, GO:0048008, GO:0045732, GO:0030097, GO:0010629, GO:0009791, GO:0008585, GO:0008210, GO:0008209, GO:0006471, GO:0001822, GO:0001570, response to 2,3,7,8-tetrachlorodibenzodioxine, protein mono-ADP-ribosylation, cellular response to organic cyclic compound, protein auto-ADP-ribosylation, face morphogenesis, roof of mouth development, smooth muscle tissue development, skeletal system morphogenesis, platelet-derived growth factor receptor signaling pathway, positive regulation of protein catabolic process, hemopoiesis, negative regulation of gene expression, post-embryonic development, female gonad development, estrogen metabolic process, androgen metabolic process, protein ADP-ribosylation, kidney development, vasculogenesis, 750 622 1597 1371 946 1450 1152 812 1011 ENSG00000163660 chr3 157146508 157160760 - CCNL1 protein_coding 57018 GO:0016607, GO:0005634, GO:0005634, nuclear speck, nucleus, nucleus, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0006396, GO:0006357, GO:0000079, RNA processing, regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 15593 17922 20383 59986 77382 83493 59613 48816 66131 ENSG00000163661 chr3 157436789 157443628 + PTX3 protein_coding This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016]. 5806 GO:1904724, GO:0035580, GO:0031012, GO:0005615, GO:0005615, GO:0005576, tertiary granule lumen, specific granule lumen, extracellular matrix, extracellular space, extracellular space, extracellular region, GO:0046790, GO:0042802, GO:0005515, GO:0001872, GO:0001849, GO:0001849, virion binding, identical protein binding, protein binding, (1->3)-beta-D-glucan binding, complement component C1q complex binding, complement component C1q complex binding, GO:1903019, GO:1903016, GO:0050766, GO:0046597, GO:0045429, GO:0045087, GO:0045087, GO:0044871, GO:0044869, GO:0044793, GO:0043312, GO:0030198, GO:0008228, GO:0006954, GO:0001878, GO:0001550, negative regulation of glycoprotein metabolic process, negative regulation of exo-alpha-sialidase activity, positive regulation of phagocytosis, negative regulation of viral entry into host cell, positive regulation of nitric oxide biosynthetic process, innate immune response, innate immune response, negative regulation by host of viral glycoprotein metabolic process, negative regulation by host of viral exo-alpha-sialidase activity, negative regulation by host of viral process, neutrophil degranulation, extracellular matrix organization, opsonization, inflammatory response, response to yeast, ovarian cumulus expansion, 17 17 166 30 31 89 75 79 193 ENSG00000163666 chr3 57197838 57227606 - HESX1 protein_coding This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]. 8820 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0047485, GO:0008022, GO:0005515, GO:0003682, GO:0003677, GO:0001227, GO:0001227, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein N-terminus binding, protein C-terminus binding, protein binding, chromatin binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048853, GO:0043584, GO:0030916, GO:0021983, GO:0021983, GO:0007420, GO:0006357, GO:0000122, forebrain morphogenesis, nose development, otic vesicle formation, pituitary gland development, pituitary gland development, brain development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 1 1 0 0 0 5 0 0 ENSG00000163673 chr3 36712422 36764349 - DCLK3 protein_coding 85443 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein kinase activity, GO:1900181, GO:0018105, negative regulation of protein localization to nucleus, peptidyl-serine phosphorylation, 0 3 0 0 3 0 0 0 1 ENSG00000163681 chr3 57755450 57929168 + SLMAP protein_coding This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 7871 GO:0042383, GO:0005887, GO:0005815, GO:0005790, sarcolemma, integral component of plasma membrane, microtubule organizing center, smooth endoplasmic reticulum, GO:0005515, protein binding, GO:1905150, GO:1902305, GO:1900825, GO:0072659, GO:0006936, regulation of voltage-gated sodium channel activity, regulation of sodium ion transmembrane transport, regulation of membrane depolarization during cardiac muscle cell action potential, protein localization to plasma membrane, muscle contraction, 1205 1221 1577 655 905 833 759 703 681 ENSG00000163682 chr4 39452521 39458949 - RPL9 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 6133 GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005840, GO:0005829, GO:0005634, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, ribosome, cytosol, nucleus, GO:0019843, GO:0005515, GO:0003735, GO:0003735, GO:0003723, rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 858 429 1156 2297 1177 2436 1618 920 1843 ENSG00000163683 chr4 39546330 39639090 - SMIM14 protein_coding 201895 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, protein binding, GO:0001835, blastocyst hatching, 378 372 471 109 189 225 147 222 146 ENSG00000163684 chr3 58306247 58324695 + RPP14 protein_coding This gene encodes a subunit of ribonuclease P and has 3' to 5' exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene. [provided by RefSeq, May 2017]. 11102 GO:0030681, GO:0005730, GO:0005654, multimeric ribonuclease P complex, nucleolus, nucleoplasm, GO:0033204, GO:0005515, GO:0004526, ribonuclease P RNA binding, protein binding, ribonuclease P activity, GO:0090502, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, tRNA 5'-leader removal, tRNA 5'-leader removal, 184 143 166 123 127 156 122 81 95 ENSG00000163686 chr3 58237506 58295693 + ABHD6 protein_coding 57406 GO:0032281, GO:0031966, GO:0031902, GO:0016021, GO:0005886, GO:0005765, GO:0005739, AMPA glutamate receptor complex, mitochondrial membrane, late endosome membrane, integral component of membrane, plasma membrane, lysosomal membrane, mitochondrion, GO:0047372, GO:0047372, GO:0005515, GO:0004620, acylglycerol lipase activity, acylglycerol lipase activity, protein binding, phospholipase activity, GO:2001311, GO:2000124, GO:0120163, GO:0060292, GO:0052651, GO:0046889, GO:0046464, GO:0046464, GO:0030336, GO:0009395, lysobisphosphatidic acid metabolic process, regulation of endocannabinoid signaling pathway, negative regulation of cold-induced thermogenesis, long-term synaptic depression, monoacylglycerol catabolic process, positive regulation of lipid biosynthetic process, acylglycerol catabolic process, acylglycerol catabolic process, negative regulation of cell migration, phospholipid catabolic process, 4 3 6 12 4 6 12 7 5 ENSG00000163687 chr3 58192257 58214697 - DNASE1L3 protein_coding This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 1776 GO:0005783, GO:0005634, GO:0005634, GO:0005576, endoplasmic reticulum, nucleus, nucleus, extracellular region, GO:0005515, GO:0005509, GO:0004530, GO:0003677, protein binding, calcium ion binding, deoxyribonuclease I activity, DNA binding, GO:0070948, GO:0010623, GO:0006309, GO:0006309, GO:0006308, GO:0006259, GO:0002673, GO:0002283, GO:0000737, regulation of neutrophil mediated cytotoxicity, programmed cell death involved in cell development, apoptotic DNA fragmentation, apoptotic DNA fragmentation, DNA catabolic process, DNA metabolic process, regulation of acute inflammatory response, neutrophil activation involved in immune response, DNA catabolic process, endonucleolytic, 0 0 2 3 2 0 6 0 6 ENSG00000163689 chr3 58717365 59050084 - C3orf67 protein_coding 200844 0 0 0 0 0 0 0 0 3 ENSG00000163694 chr4 40423267 40630875 - RBM47 protein_coding 54502 GO:0005634, nucleus, GO:0005515, GO:0003729, GO:0003723, GO:0003723, protein binding, mRNA binding, RNA binding, RNA binding, GO:0016554, GO:0002244, cytidine to uridine editing, hematopoietic progenitor cell differentiation, 4550 4613 6170 1691 2970 2313 2065 2380 2186 ENSG00000163697 chr4 40810027 41216714 - APBB2 protein_coding The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 323 GO:0045202, GO:0030426, GO:0030027, GO:0016020, GO:0005737, GO:0005634, GO:0005634, synapse, growth cone, lamellipodium, membrane, cytoplasm, nucleus, nucleus, GO:0008134, GO:0008134, GO:0005515, GO:0001540, GO:0001540, transcription factor binding, transcription factor binding, protein binding, amyloid-beta binding, amyloid-beta binding, GO:0043066, GO:0043065, GO:0035556, GO:0030308, GO:0030198, GO:0007411, GO:0007050, GO:0006355, GO:0001764, negative regulation of apoptotic process, positive regulation of apoptotic process, intracellular signal transduction, negative regulation of cell growth, extracellular matrix organization, axon guidance, cell cycle arrest, regulation of transcription, DNA-templated, neuron migration, 16 22 21 27 48 25 50 18 16 ENSG00000163701 chr3 9902612 9916402 + IL17RE protein_coding This gene encodes a transmembrane protein that functions as the receptor for interleukin-17C. The encoded protein signals to downstream components of the mitogen activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]. 132014 GO:0016021, GO:0005886, GO:0005737, GO:0005576, integral component of membrane, plasma membrane, cytoplasm, extracellular region, GO:0030368, GO:0005515, interleukin-17 receptor activity, protein binding, GO:0097400, GO:0006954, interleukin-17-mediated signaling pathway, inflammatory response, 4 1 5 14 13 6 3 0 6 ENSG00000163702 chr3 9917074 9933630 + IL17RC protein_coding This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]. 84818 GO:0016021, GO:0009986, GO:0005886, integral component of membrane, cell surface, plasma membrane, GO:0030368, GO:0030368, GO:0005515, GO:0005102, interleukin-17 receptor activity, interleukin-17 receptor activity, protein binding, signaling receptor binding, GO:1900017, GO:0097400, GO:0071621, GO:0050832, GO:0032755, GO:0006954, positive regulation of cytokine production involved in inflammatory response, interleukin-17-mediated signaling pathway, granulocyte chemotaxis, defense response to fungus, positive regulation of interleukin-6 production, inflammatory response, 3 1 3 7 5 17 7 7 4 ENSG00000163703 chr3 9933822 9945413 + CRELD1 protein_coding This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]. 78987 GO:0062023, GO:0016021, collagen-containing extracellular matrix, integral component of membrane, GO:0005515, GO:0005509, GO:0005201, GO:0003756, protein binding, calcium ion binding, extracellular matrix structural constituent, protein disulfide isomerase activity, GO:0003279, GO:0003197, cardiac septum development, endocardial cushion development, 40 54 47 67 70 85 69 48 80 ENSG00000163704 chr3 9945542 9952394 - PRRT3 protein_coding 285368 GO:0016021, integral component of membrane, 27 48 20 45 63 57 31 42 35 ENSG00000163705 chr3 10081317 10108231 - FANCD2OS protein_coding This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013]. 115795 48 32 59 49 57 55 46 40 61 ENSG00000163710 chr3 142815922 142889206 - PCOLCE2 protein_coding 26577 GO:0005576, extracellular region, GO:0016504, GO:0008201, GO:0005518, peptidase activator activity, heparin binding, collagen binding, GO:1990830, GO:0010952, cellular response to leukemia inhibitory factor, positive regulation of peptidase activity, 0 0 1 0 0 2 0 0 0 ENSG00000163714 chr3 142964497 143060546 + U2SURP protein_coding 23350 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0000398, mRNA splicing, via spliceosome, 514 612 741 538 692 791 693 513 535 ENSG00000163719 chr3 9649433 9702393 + MTMR14 protein_coding This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]. 64419 GO:0048471, GO:0005829, GO:0001726, perinuclear region of cytoplasm, cytosol, ruffle, GO:0005515, GO:0004725, GO:0004438, GO:0004438, protein binding, protein tyrosine phosphatase activity, phosphatidylinositol-3-phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:0035335, GO:0016236, GO:0006661, peptidyl-tyrosine dephosphorylation, macroautophagy, phosphatidylinositol biosynthetic process, 1198 1407 1898 1067 1555 1491 1191 1291 1230 ENSG00000163728 chr3 180602130 180617828 + TTC14 protein_coding 151613 GO:0003676, nucleic acid binding, 335 275 510 441 280 617 527 290 469 ENSG00000163734 chr4 74036589 74038807 - CXCL3 protein_coding This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014]. 2921 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0045236, GO:0008009, GO:0008009, CXCR chemokine receptor binding, chemokine activity, chemokine activity, GO:0071222, GO:0070098, GO:0061844, GO:0030593, GO:0030593, GO:0007186, GO:0006954, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, neutrophil chemotaxis, neutrophil chemotaxis, G protein-coupled receptor signaling pathway, inflammatory response, 6 4 10 7 3 5 40 23 41 ENSG00000163735 chr4 73995642 73998779 - CXCL5 protein_coding This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [provided by RefSeq, May 2013]. 6374 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0045236, GO:0042802, GO:0008009, GO:0005515, CXCR chemokine receptor binding, identical protein binding, chemokine activity, protein binding, GO:0071222, GO:0070098, GO:0061844, GO:0030593, GO:0008284, GO:0007267, GO:0007186, GO:0007165, GO:0006954, GO:0006935, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, neutrophil chemotaxis, positive regulation of cell population proliferation, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, 0 2 2 0 4 0 0 1 0 ENSG00000163736 chr4 73987038 73988197 - PPBP protein_coding The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. The protein also is an antimicrobial protein with bactericidal and antifungal activity. [provided by RefSeq, Nov 2014]. 5473 GO:1904724, GO:0031093, GO:0005615, GO:0005576, tertiary granule lumen, platelet alpha granule lumen, extracellular space, extracellular region, GO:0045236, GO:0008083, GO:0008009, GO:0005515, GO:0005355, CXCR chemokine receptor binding, growth factor activity, chemokine activity, protein binding, glucose transmembrane transporter activity, GO:1904659, GO:0071222, GO:0070098, GO:0061844, GO:0051781, GO:0043312, GO:0042742, GO:0030593, GO:0007186, GO:0006954, GO:0002576, glucose transmembrane transport, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, positive regulation of cell division, neutrophil degranulation, defense response to bacterium, neutrophil chemotaxis, G protein-coupled receptor signaling pathway, inflammatory response, platelet degranulation, 2 3 3 1 10 8 7 2 3 ENSG00000163737 chr4 73981077 73982124 - PF4 protein_coding This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]. 5196 GO:0062023, GO:0031093, GO:0020005, GO:0005737, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, platelet alpha granule lumen, symbiont-containing vacuole membrane, cytoplasm, extracellular space, extracellular region, extracellular region, GO:0048248, GO:0045236, GO:0008201, GO:0008009, GO:0008009, GO:0005515, CXCR3 chemokine receptor binding, CXCR chemokine receptor binding, heparin binding, chemokine activity, chemokine activity, protein binding, GO:2001240, GO:0071222, GO:0070098, GO:0061844, GO:0061844, GO:0051873, GO:0045944, GO:0045653, GO:0045652, GO:0045651, GO:0045347, GO:0042832, GO:0042127, GO:0032760, GO:0030595, GO:0030593, GO:0030168, GO:0019221, GO:0016525, GO:0010744, GO:0010628, GO:0007189, GO:0007186, GO:0006954, GO:0002576, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, killing by host of symbiont cells, positive regulation of transcription by RNA polymerase II, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, positive regulation of macrophage differentiation, negative regulation of MHC class II biosynthetic process, defense response to protozoan, regulation of cell population proliferation, positive regulation of tumor necrosis factor production, leukocyte chemotaxis, neutrophil chemotaxis, platelet activation, cytokine-mediated signaling pathway, negative regulation of angiogenesis, positive regulation of macrophage derived foam cell differentiation, positive regulation of gene expression, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, platelet degranulation, 0 0 4 1 7 3 3 4 6 ENSG00000163738 chr4 74114174 74303099 + MTHFD2L protein_coding 441024 GO:0005759, GO:0005743, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, GO:0004488, GO:0004487, GO:0004477, methylenetetrahydrofolate dehydrogenase (NADP+) activity, methylenetetrahydrofolate dehydrogenase (NAD+) activity, methenyltetrahydrofolate cyclohydrolase activity, GO:0055114, GO:0046655, GO:0035999, GO:0035999, GO:0009256, GO:0009086, GO:0006164, GO:0000105, oxidation-reduction process, folic acid metabolic process, tetrahydrofolate interconversion, tetrahydrofolate interconversion, 10-formyltetrahydrofolate metabolic process, methionine biosynthetic process, purine nucleotide biosynthetic process, histidine biosynthetic process, 16 18 39 11 16 32 23 23 18 ENSG00000163739 chr4 73869393 73871242 + CXCL1 protein_coding This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014]. 2919 GO:1904724, GO:0035580, GO:0005615, GO:0005576, tertiary granule lumen, specific granule lumen, extracellular space, extracellular region, GO:0045236, GO:0008083, GO:0008047, GO:0008009, GO:0005515, GO:0005102, CXCR chemokine receptor binding, growth factor activity, enzyme activator activity, chemokine activity, protein binding, signaling receptor binding, GO:0071222, GO:0070098, GO:0061844, GO:0043312, GO:0043085, GO:0035556, GO:0030593, GO:0030036, GO:0019221, GO:0008285, GO:0007399, GO:0007186, GO:0007165, GO:0006954, GO:0006935, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, neutrophil degranulation, positive regulation of catalytic activity, intracellular signal transduction, neutrophil chemotaxis, actin cytoskeleton organization, cytokine-mediated signaling pathway, negative regulation of cell population proliferation, nervous system development, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, 1155 1602 2882 3447 3790 3462 6328 6032 4510 ENSG00000163743 chr4 75479037 75514764 - RCHY1 protein_coding The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]. 25898 GO:0043231, GO:0016607, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000151, intracellular membrane-bounded organelle, nuclear speck, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0042803, GO:0008270, GO:0005515, GO:0004842, GO:0002039, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein homodimerization activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, p53 binding, GO:0070987, GO:0032436, GO:0031398, GO:0016567, GO:0016567, GO:0016567, GO:0006511, GO:0006511, error-free translesion synthesis, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein ubiquitination, protein ubiquitination, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 181 104 185 241 266 315 216 176 183 ENSG00000163746 chr3 146391421 146495991 - PLSCR2 protein_coding This gene encodes a member of the phospholipid scramblase family. Phospholipid scramblases are membrane proteins that mediate calcium-dependent, non-specific movement of plasma membrane phospholipids and phosphatidylserine exposure. The encoded protein contains a low affinity calcium binding motif and may play a role in blood coagulation and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 57047 GO:0016021, GO:0005886, GO:0005886, GO:0005634, integral component of membrane, plasma membrane, plasma membrane, nucleus, GO:0017128, GO:0017128, GO:0005515, GO:0005509, phospholipid scramblase activity, phospholipid scramblase activity, protein binding, calcium ion binding, GO:0017121, GO:0017121, plasma membrane phospholipid scrambling, plasma membrane phospholipid scrambling, 1 0 1 1 1 0 0 0 0 ENSG00000163749 chr4 76312997 76421868 - CCDC158 protein_coding 339965 0 0 0 0 0 0 0 0 0 ENSG00000163751 chr3 148865256 148897196 + CPA3 protein_coding This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Expression of this gene may be elevated in human asthma patients. [provided by RefSeq, Nov 2015]. 1359 GO:0062023, GO:0030141, GO:0030133, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, secretory granule, transport vesicle, extracellular space, extracellular region, extracellular region, GO:0008270, GO:0004181, GO:0004181, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, metallocarboxypeptidase activity, metallocarboxypeptidase activity, GO:0006508, GO:0006508, GO:0002003, proteolysis, proteolysis, angiotensin maturation, 6 9 2 6 11 10 5 4 8 ENSG00000163754 chr3 148991341 149027668 + GYG1 protein_coding This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]. 2992 GO:1904813, GO:0043202, GO:0034774, GO:0016020, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, lysosomal lumen, secretory granule lumen, membrane, cytosol, extracellular region, GO:0102751, GO:0042803, GO:0030145, GO:0008466, GO:0008466, GO:0005515, UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity, protein homodimerization activity, manganese ion binding, glycogenin glucosyltransferase activity, glycogenin glucosyltransferase activity, protein binding, GO:0043312, GO:0005978, GO:0005978, GO:0005978, neutrophil degranulation, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, 198 71 256 111 84 210 155 101 128 ENSG00000163755 chr3 149129584 149173732 + HPS3 protein_coding This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]. 84343 GO:0031084, GO:0031084, GO:0005737, BLOC-2 complex, BLOC-2 complex, cytoplasm, GO:0005515, protein binding, GO:0043473, GO:0006996, pigmentation, organelle organization, 148 137 148 157 144 123 145 129 104 ENSG00000163762 chr3 149318498 149334414 - TM4SF18 protein_coding 116441 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000163781 chr3 133598175 133662380 - TOPBP1 protein_coding This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]. 11073 GO:0043231, GO:0016605, GO:0016604, GO:0015629, GO:0005886, GO:0005815, GO:0005737, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0001673, GO:0000922, GO:0000794, intracellular membrane-bounded organelle, PML body, nuclear body, actin cytoskeleton, plasma membrane, microtubule organizing center, cytoplasm, chromosome, nucleoplasm, nucleoplasm, nucleus, male germ cell nucleus, spindle pole, condensed nuclear chromosome, GO:0042802, GO:0008022, GO:0005515, GO:0003677, identical protein binding, protein C-terminus binding, protein binding, DNA binding, GO:1901796, GO:0033314, GO:0010212, GO:0007095, GO:0006974, GO:0006281, GO:0006270, GO:0006260, GO:0006259, regulation of signal transduction by p53 class mediator, mitotic DNA replication checkpoint, response to ionizing radiation, mitotic G2 DNA damage checkpoint, cellular response to DNA damage stimulus, DNA repair, DNA replication initiation, DNA replication, DNA metabolic process, 502 390 502 279 385 429 390 279 337 ENSG00000163785 chr3 134065303 134250744 - RYK protein_coding The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]. 6259 GO:0043235, GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005634, GO:0005634, receptor complex, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, nucleus, GO:1904929, GO:0042813, GO:0017147, GO:0017147, GO:0005524, GO:0005515, GO:0005109, GO:0005109, GO:0004888, GO:0004714, GO:0004713, coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway, Wnt-activated receptor activity, Wnt-protein binding, Wnt-protein binding, ATP binding, protein binding, frizzled binding, frizzled binding, transmembrane signaling receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:1904953, GO:1904953, GO:1904948, GO:1904938, GO:0071679, GO:0060070, GO:0048843, GO:0048705, GO:0043410, GO:0036518, GO:0035567, GO:0033674, GO:0033278, GO:0031175, GO:0030182, GO:0022038, GO:0022008, GO:0018108, GO:0016055, GO:0007416, GO:0007411, GO:0007411, GO:0007409, GO:0007409, GO:0007409, GO:0007275, GO:0007169, GO:0007165, GO:0006468, Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, midbrain dopaminergic neuron differentiation, planar cell polarity pathway involved in axon guidance, commissural neuron axon guidance, canonical Wnt signaling pathway, negative regulation of axon extension involved in axon guidance, skeletal system morphogenesis, positive regulation of MAPK cascade, chemorepulsion of dopaminergic neuron axon, non-canonical Wnt signaling pathway, positive regulation of kinase activity, cell proliferation in midbrain, neuron projection development, neuron differentiation, corpus callosum development, neurogenesis, peptidyl-tyrosine phosphorylation, Wnt signaling pathway, synapse assembly, axon guidance, axon guidance, axonogenesis, axonogenesis, axonogenesis, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, protein phosphorylation, 89 84 184 129 96 173 92 75 118 ENSG00000163788 chr3 43286512 43424764 + SNRK protein_coding SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]. 54861 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0030099, GO:0006468, GO:0006468, intracellular signal transduction, myeloid cell differentiation, protein phosphorylation, protein phosphorylation, 5110 5665 6056 1966 3754 2911 2282 2819 2439 ENSG00000163792 chr2 27149004 27156974 + TCF23 protein_coding The gene encodes a member of the basic helix-loop-helix transcription factor family. Studies of the orthologous gene in mouse have shown the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex. [provided by RefSeq, May 2010]. 150921 GO:0000791, GO:0000785, GO:0000785, euchromatin, chromatin, chromatin, GO:0140416, GO:0046983, GO:0005515, GO:0001102, GO:0000981, GO:0000981, GO:0000977, transcription regulator inhibitor activity, protein dimerization activity, protein binding, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0051148, GO:0046697, GO:0032502, GO:0030154, GO:0010628, GO:0007517, GO:0006357, GO:0000122, negative regulation of muscle cell differentiation, decidualization, developmental process, cell differentiation, positive regulation of gene expression, muscle organ development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000163793 chr2 27275421 27281499 + DNAJC5G protein_coding 285126 GO:0016020, membrane, 0 0 0 0 0 0 0 0 0 ENSG00000163794 chr2 27307400 27308445 - UCN protein_coding This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family. The encoded preproprotein is proteolytically processed to generate the mature peptide, an endogenous ligand for both corticotropin-releasing factor receptor 1 and corticotropin-releasing factor receptor 2. In the brain this peptide may be responsible for the effects of stress on appetite. This peptide may also play a role in mood disorders, neurodegeneration, and skeletal system disorders. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin-2. [provided by RefSeq, Feb 2016]. 7349 GO:0043679, GO:0043204, GO:0043196, GO:0030425, GO:0005576, axon terminus, perikaryon, varicosity, dendrite, extracellular region, GO:0051431, GO:0051430, GO:0046811, GO:0005515, GO:0005184, corticotropin-releasing hormone receptor 2 binding, corticotropin-releasing hormone receptor 1 binding, histone deacetylase inhibitor activity, protein binding, neuropeptide hormone activity, GO:2000987, GO:2000252, GO:1901215, GO:0097755, GO:0090280, GO:0060547, GO:0060455, GO:0060452, GO:0051966, GO:0051461, GO:0051384, GO:0048265, GO:0046888, GO:0045944, GO:0045792, GO:0045776, GO:0045740, GO:0045727, GO:0043950, GO:0043117, GO:0043066, GO:0042756, GO:0035483, GO:0035176, GO:0034199, GO:0033138, GO:0032967, GO:0032755, GO:0032355, GO:0032099, GO:0031175, GO:0031064, GO:0030307, GO:0030157, GO:0010996, GO:0010629, GO:0009060, GO:0008306, GO:0007605, GO:0007565, GO:0007218, GO:0007186, GO:0006979, GO:0006954, GO:0001964, positive regulation of behavioral fear response, negative regulation of feeding behavior, negative regulation of neuron death, positive regulation of blood vessel diameter, positive regulation of calcium ion import, negative regulation of necrotic cell death, negative regulation of gastric acid secretion, positive regulation of cardiac muscle contraction, regulation of synaptic transmission, glutamatergic, positive regulation of corticotropin secretion, response to glucocorticoid, response to pain, negative regulation of hormone secretion, positive regulation of transcription by RNA polymerase II, negative regulation of cell size, negative regulation of blood pressure, positive regulation of DNA replication, positive regulation of translation, positive regulation of cAMP-mediated signaling, positive regulation of vascular permeability, negative regulation of apoptotic process, drinking behavior, gastric emptying, social behavior, activation of protein kinase A activity, positive regulation of peptidyl-serine phosphorylation, positive regulation of collagen biosynthetic process, positive regulation of interleukin-6 production, response to estradiol, negative regulation of appetite, neuron projection development, negative regulation of histone deacetylation, positive regulation of cell growth, pancreatic juice secretion, response to auditory stimulus, negative regulation of gene expression, aerobic respiration, associative learning, sensory perception of sound, female pregnancy, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, response to oxidative stress, inflammatory response, startle response, 0 2 8 3 8 4 5 5 12 ENSG00000163795 chr2 27377231 27380790 - ZNF513 protein_coding The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 130557 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003677, GO:0000976, GO:0000976, metal ion binding, protein binding, DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060041, GO:0050896, GO:0045944, GO:0010468, GO:0007601, retina development in camera-type eye, response to stimulus, positive regulation of transcription by RNA polymerase II, regulation of gene expression, visual perception, 156 242 137 659 627 608 764 605 438 ENSG00000163798 chr2 27663471 27694976 + SLC4A1AP protein_coding 22950 GO:0043231, GO:0005886, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, plasma membrane, cytoplasm, nucleoplasm, GO:0005515, GO:0003729, protein binding, mRNA binding, 165 204 201 174 203 164 126 176 136 ENSG00000163803 chr2 28457145 28643788 + PLB1 protein_coding This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]. 151056 GO:0031526, GO:0016324, GO:0016021, GO:0005886, brush border membrane, apical plasma membrane, integral component of membrane, plasma membrane, GO:0102568, GO:0102567, GO:0102545, GO:0050253, GO:0050253, GO:0004806, GO:0004623, GO:0004623, GO:0004622, GO:0004620, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), phosphatidyl phospholipase B activity, retinyl-palmitate esterase activity, retinyl-palmitate esterase activity, triglyceride lipase activity, phospholipase A2 activity, phospholipase A2 activity, lysophospholipase activity, phospholipase activity, GO:2000344, GO:0042572, GO:0036151, GO:0006644, GO:0001523, positive regulation of acrosome reaction, retinol metabolic process, phosphatidylcholine acyl-chain remodeling, phospholipid metabolic process, retinoid metabolic process, 608 825 132 632 936 105 711 697 120 ENSG00000163806 chr2 28782517 28850611 + SPDYA protein_coding 245711 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0030295, GO:0019901, GO:0019901, GO:0005515, protein kinase activator activity, protein kinase binding, protein kinase binding, protein binding, GO:0045860, GO:0045737, GO:0032147, GO:0008284, GO:0008284, GO:0007275, GO:0007140, GO:0006974, GO:0000082, GO:0000082, positive regulation of protein kinase activity, positive regulation of cyclin-dependent protein serine/threonine kinase activity, activation of protein kinase activity, positive regulation of cell population proliferation, positive regulation of cell population proliferation, multicellular organism development, male meiotic nuclear division, cellular response to DNA damage stimulus, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 48 56 59 51 84 98 74 75 48 ENSG00000163807 chr3 44737661 44761662 - KIAA1143 protein_coding 57456 GO:0005515, protein binding, 242 305 257 154 177 211 169 114 100 ENSG00000163808 chr3 44761717 44873376 + KIF15 protein_coding 56992 GO:0016020, GO:0005874, GO:0005873, GO:0005871, GO:0005829, GO:0005819, GO:0005813, membrane, microtubule, plus-end kinesin complex, kinesin complex, cytosol, spindle, centrosome, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003774, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, motor activity, GO:0019886, GO:0007018, GO:0007018, GO:0006890, GO:0000278, antigen processing and presentation of exogenous peptide antigen via MHC class II, microtubule-based movement, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, mitotic cell cycle, 1 1 4 3 0 1 2 0 5 ENSG00000163810 chr3 44874608 44914990 + TGM4 protein_coding 7047 GO:0070062, GO:0062023, GO:0062023, GO:0005794, GO:0005737, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, Golgi apparatus, cytoplasm, GO:0046872, GO:0003810, GO:0003810, metal ion binding, protein-glutamine gamma-glutamyltransferase activity, protein-glutamine gamma-glutamyltransferase activity, GO:0018149, peptide cross-linking, 1 2 9 11 8 23 23 13 11 ENSG00000163811 chr2 28894643 28948222 + WDR43 protein_coding 23160 GO:0005730, GO:0005654, GO:0005654, GO:0001650, GO:0000785, nucleolus, nucleoplasm, nucleoplasm, fibrillar center, chromatin, GO:0005515, GO:0003723, GO:0003711, GO:0000993, protein binding, RNA binding, transcription elongation regulator activity, RNA polymerase II complex binding, GO:2000234, GO:2000036, GO:0045943, GO:0034243, GO:0006364, positive regulation of rRNA processing, regulation of stem cell population maintenance, positive regulation of transcription by RNA polymerase I, regulation of transcription elongation from RNA polymerase II promoter, rRNA processing, 37 43 103 104 39 96 73 29 52 ENSG00000163812 chr3 44915257 44976185 - ZDHHC3 protein_coding 51304 GO:0016021, GO:0016020, GO:0005794, GO:0005794, GO:0005783, GO:0000139, integral component of membrane, membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0042803, GO:0019706, GO:0019706, GO:0016409, protein homodimerization activity, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, GO:1903546, GO:1902685, GO:0072659, GO:0072659, GO:0044873, GO:0036462, GO:0032230, GO:0018345, GO:0018345, GO:0018230, GO:0018230, GO:0008277, GO:0006612, protein localization to photoreceptor outer segment, positive regulation of receptor localization to synapse, protein localization to plasma membrane, protein localization to plasma membrane, lipoprotein localization to membrane, TRAIL-activated apoptotic signaling pathway, positive regulation of synaptic transmission, GABAergic, protein palmitoylation, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, regulation of G protein-coupled receptor signaling pathway, protein targeting to membrane, 610 561 758 263 411 487 418 342 422 ENSG00000163814 chr3 45082278 45146422 - CDCP1 protein_coding This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. 64866 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0005515, protein binding, 5 2 7 1 6 16 5 0 3 ENSG00000163815 chr3 45001548 45036071 + CLEC3B protein_coding 7123 GO:0070062, GO:0062023, GO:0062023, GO:0031089, GO:0005737, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, GO:0001652, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet dense granule lumen, cytoplasm, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, granular component, GO:0036143, GO:0030246, GO:0008201, GO:0005509, kringle domain binding, carbohydrate binding, heparin binding, calcium ion binding, GO:0071560, GO:0071310, GO:0030282, GO:0030282, GO:0030282, GO:0010756, GO:0002576, GO:0001503, GO:0001503, cellular response to transforming growth factor beta stimulus, cellular response to organic substance, bone mineralization, bone mineralization, bone mineralization, positive regulation of plasminogen activation, platelet degranulation, ossification, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000163817 chr3 45755450 45796535 - SLC6A20 protein_coding Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]. 54716 GO:0016324, GO:0016324, GO:0005887, GO:0005886, GO:0005886, apical plasma membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015199, GO:0015193, GO:0015193, GO:0015193, GO:0015188, GO:0015175, GO:0015175, GO:0015171, GO:0015171, GO:0015171, GO:0005515, GO:0005298, amino-acid betaine transmembrane transporter activity, L-proline transmembrane transporter activity, L-proline transmembrane transporter activity, L-proline transmembrane transporter activity, L-isoleucine transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, proline:sodium symporter activity, GO:1905647, GO:1904271, GO:1904271, GO:1903806, GO:0150104, GO:0089718, GO:0035725, GO:0015838, GO:0015824, GO:0015816, GO:0006865, GO:0006865, proline import across plasma membrane, L-proline import across plasma membrane, L-proline import across plasma membrane, L-isoleucine import across plasma membrane, transport across blood-brain barrier, amino acid import across plasma membrane, sodium ion transmembrane transport, amino-acid betaine transport, proline transport, glycine transport, amino acid transport, amino acid transport, 1 1 0 1 1 1 0 0 5 ENSG00000163818 chr3 45823316 45916042 - LZTFL1 protein_coding This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]. 54585 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0044877, GO:0042802, GO:0005515, protein-containing complex binding, identical protein binding, protein binding, GO:1903568, GO:1903565, GO:1903565, negative regulation of protein localization to ciliary membrane, negative regulation of protein localization to cilium, negative regulation of protein localization to cilium, 115 108 126 63 93 74 96 90 30 ENSG00000163820 chr3 45917899 45995824 - FYCO1 protein_coding The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]. 79443 GO:0043231, GO:0016020, GO:0005794, GO:0005776, GO:0005776, GO:0005770, GO:0005770, GO:0005764, GO:0005764, intracellular membrane-bounded organelle, membrane, Golgi apparatus, autophagosome, autophagosome, late endosome, late endosome, lysosome, lysosome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:1901098, GO:1901098, GO:0072383, GO:0072383, positive regulation of autophagosome maturation, positive regulation of autophagosome maturation, plus-end-directed vesicle transport along microtubule, plus-end-directed vesicle transport along microtubule, 135 138 156 115 142 197 184 94 154 ENSG00000163823 chr3 46201709 46208396 - CCR1 protein_coding This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]. 1230 GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0071791, GO:0071791, GO:0035717, GO:0035717, GO:0019957, GO:0019957, GO:0016493, GO:0016493, GO:0005515, GO:0004950, GO:0004435, chemokine (C-C motif) ligand 5 binding, chemokine (C-C motif) ligand 5 binding, chemokine (C-C motif) ligand 7 binding, chemokine (C-C motif) ligand 7 binding, C-C chemokine binding, C-C chemokine binding, C-C chemokine receptor activity, C-C chemokine receptor activity, protein binding, chemokine receptor activity, phosphatidylinositol phospholipase C activity, GO:0090026, GO:0070374, GO:0070098, GO:0060326, GO:0051928, GO:0045672, GO:0030502, GO:0030335, GO:0019722, GO:0019221, GO:0019221, GO:0010629, GO:0009611, GO:0007267, GO:0007204, GO:0007204, GO:0007187, GO:0007186, GO:0007166, GO:0007155, GO:0006955, GO:0006955, GO:0006954, GO:0006935, GO:0006887, GO:0006874, GO:0006816, GO:0002407, positive regulation of monocyte chemotaxis, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, cell chemotaxis, positive regulation of calcium ion transport, positive regulation of osteoclast differentiation, negative regulation of bone mineralization, positive regulation of cell migration, calcium-mediated signaling, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, negative regulation of gene expression, response to wounding, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cell adhesion, immune response, immune response, inflammatory response, chemotaxis, exocytosis, cellular calcium ion homeostasis, calcium ion transport, dendritic cell chemotaxis, 4192 3126 5609 1190 1222 2721 1678 1637 2876 ENSG00000163825 chr3 46497491 46500949 + RTP3 protein_coding 83597 GO:0016021, GO:0005737, GO:0005737, integral component of membrane, cytoplasm, cytoplasm, GO:0031849, GO:0005515, olfactory receptor binding, protein binding, GO:0051205, GO:0006612, GO:0006612, GO:0001580, GO:0001580, protein insertion into membrane, protein targeting to membrane, protein targeting to membrane, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000163827 chr3 46515423 46580099 - LRRC2 protein_coding This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]. 79442 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0004722, protein serine/threonine phosphatase activity, GO:0007165, GO:0006470, signal transduction, protein dephosphorylation, 0 0 0 1 0 0 0 0 0 ENSG00000163832 chr3 47495640 47513761 - ELP6 protein_coding 54859 GO:0033588, GO:0033588, GO:0005829, GO:0005634, elongator holoenzyme complex, elongator holoenzyme complex, cytosol, nucleus, GO:0003674, molecular_function, GO:0030335, GO:0008150, GO:0002098, positive regulation of cell migration, biological_process, tRNA wobble uridine modification, 7 10 10 36 8 25 21 9 15 ENSG00000163833 chr3 121593119 121630295 + FBXO40 protein_coding Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 51725 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0043687, GO:0042692, GO:0000209, post-translational protein modification, muscle cell differentiation, protein polyubiquitination, 4 10 10 16 12 22 5 5 6 ENSG00000163840 chr3 122564238 122575203 + DTX3L protein_coding DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]. 151636 GO:0032991, GO:0031901, GO:0005829, GO:0005829, GO:0005769, GO:0005765, GO:0005764, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, protein-containing complex, early endosome membrane, cytosol, cytosol, early endosome, lysosomal membrane, lysosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0097677, GO:0061630, GO:0046872, GO:0044389, GO:0042393, GO:0042393, GO:0019899, GO:0008047, GO:0005515, GO:0004857, GO:0004842, GO:0004842, STAT family protein binding, ubiquitin protein ligase activity, metal ion binding, ubiquitin-like protein ligase binding, histone binding, histone binding, enzyme binding, enzyme activator activity, protein binding, enzyme inhibitor activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2001034, GO:2000646, GO:1902966, GO:1901666, GO:1900182, GO:0070936, GO:0051865, GO:0051607, GO:0051444, GO:0045893, GO:0045087, GO:0035563, GO:0033523, GO:0033522, GO:0032092, GO:0016567, GO:0016032, GO:0015031, GO:0010390, GO:0008333, GO:0007219, GO:0006974, GO:0006511, GO:0006302, GO:0002230, GO:0000209, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of receptor catabolic process, positive regulation of protein localization to early endosome, positive regulation of NAD+ ADP-ribosyltransferase activity, positive regulation of protein localization to nucleus, protein K48-linked ubiquitination, protein autoubiquitination, defense response to virus, negative regulation of ubiquitin-protein transferase activity, positive regulation of transcription, DNA-templated, innate immune response, positive regulation of chromatin binding, histone H2B ubiquitination, histone H2A ubiquitination, positive regulation of protein binding, protein ubiquitination, viral process, protein transport, histone monoubiquitination, endosome to lysosome transport, Notch signaling pathway, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, double-strand break repair, positive regulation of defense response to virus by host, protein polyubiquitination, 1453 1299 1883 613 889 829 801 743 763 ENSG00000163848 chr3 125225561 125375354 - ZNF148 protein_coding The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]. 7707 GO:0005794, GO:0005654, GO:0000785, Golgi apparatus, nucleoplasm, chromatin, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0000978, GO:0000978, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0065003, GO:0045944, GO:0045892, GO:0021762, GO:0010629, GO:0007276, GO:0006968, GO:0006357, GO:0000122, GO:0000122, protein-containing complex assembly, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, substantia nigra development, negative regulation of gene expression, gamete generation, cellular defense response, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 998 1014 1139 494 870 760 572 712 641 ENSG00000163864 chr3 139560180 139678017 - NMNAT3 protein_coding This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 349565 GO:0005759, GO:0005739, GO:0005739, GO:0005634, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0005524, GO:0004515, GO:0004515, GO:0000309, ATP binding, nicotinate-nucleotide adenylyltransferase activity, nicotinate-nucleotide adenylyltransferase activity, nicotinamide-nucleotide adenylyltransferase activity, GO:0019674, GO:0009435, GO:0009435, GO:0009165, NAD metabolic process, NAD biosynthetic process, NAD biosynthetic process, nucleotide biosynthetic process, 9 8 5 8 4 3 6 5 5 ENSG00000163866 chr1 34712737 34859816 - SMIM12 protein_coding 113444 GO:0016021, integral component of membrane, GO:0005515, protein binding, 126 135 158 130 160 164 114 125 110 ENSG00000163867 chr1 34986165 35031968 - ZMYM6 protein_coding 9204 GO:0005634, nucleus, GO:0008270, GO:0003677, zinc ion binding, DNA binding, GO:0022604, GO:0007275, GO:0007010, regulation of cell morphogenesis, multicellular organism development, cytoskeleton organization, 96 105 82 144 153 148 77 93 105 ENSG00000163870 chr3 127571266 127598267 - TPRA1 protein_coding 131601 GO:0016021, integral component of membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:1901991, GO:0040016, GO:0007568, GO:0007186, GO:0006629, negative regulation of mitotic cell cycle phase transition, embryonic cleavage, aging, G protein-coupled receptor signaling pathway, lipid metabolic process, 81 48 64 76 122 97 104 74 89 ENSG00000163872 chr3 183697818 183812625 + YEATS2 protein_coding Summary: The protein encoded by this gene is a scaffolding subunit of the ATAC complex, which is a complex with acetyltransferase activity on histones H3 and H4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]. 55689 GO:0072686, GO:0005671, mitotic spindle, Ada2/Gcn5/Ada3 transcription activator complex, GO:0140030, GO:0042393, GO:0017025, GO:0005515, modification-dependent protein binding, histone binding, TBP-class protein binding, protein binding, GO:0045892, GO:0043966, GO:0000122, negative regulation of transcription, DNA-templated, histone H3 acetylation, negative regulation of transcription by RNA polymerase II, 154 206 190 186 225 187 190 151 161 ENSG00000163873 chr1 36795527 37034129 - GRIK3 protein_coding Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. [provided by RefSeq, Jul 2008]. 2899 GO:0045211, GO:0043204, GO:0043195, GO:0042734, GO:0032983, GO:0032839, GO:0030425, GO:0030424, GO:0005887, GO:0005886, GO:0005886, postsynaptic membrane, perikaryon, terminal bouton, presynaptic membrane, kainate selective glutamate receptor complex, dendrite cytoplasm, dendrite, axon, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1904315, GO:0038023, GO:0015277, GO:0015277, GO:0015276, GO:0008066, GO:0008066, GO:0004970, GO:0004970, GO:0001640, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, signaling receptor activity, kainate selective glutamate receptor activity, kainate selective glutamate receptor activity, ligand-gated ion channel activity, glutamate receptor activity, glutamate receptor activity, ionotropic glutamate receptor activity, ionotropic glutamate receptor activity, adenylate cyclase inhibiting G protein-coupled glutamate receptor activity, GO:0060078, GO:0051967, GO:0050804, GO:0042391, GO:0042391, GO:0035249, GO:0035235, GO:0034220, GO:0007216, GO:0007215, GO:0007196, regulation of postsynaptic membrane potential, negative regulation of synaptic transmission, glutamatergic, modulation of chemical synaptic transmission, regulation of membrane potential, regulation of membrane potential, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, G protein-coupled glutamate receptor signaling pathway, glutamate receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway, 0 0 0 0 0 0 0 2 0 ENSG00000163874 chr1 37474552 37484379 + ZC3H12A protein_coding ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]. 80149 GO:0042406, GO:0036464, GO:0036464, GO:0032991, GO:0030867, GO:0005856, GO:0005791, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000932, extrinsic component of endoplasmic reticulum membrane, cytoplasmic ribonucleoprotein granule, cytoplasmic ribonucleoprotein granule, protein-containing complex, rough endoplasmic reticulum membrane, cytoskeleton, rough endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, nucleus, P-body, GO:0046872, GO:0043022, GO:0035925, GO:0035613, GO:0035198, GO:0005515, GO:0004843, GO:0004540, GO:0004532, GO:0004521, GO:0004521, GO:0003730, GO:0003729, GO:0003729, GO:0003723, GO:0003682, GO:0003677, metal ion binding, ribosome binding, mRNA 3'-UTR AU-rich region binding, RNA stem-loop binding, miRNA binding, protein binding, thiol-dependent ubiquitin-specific protease activity, ribonuclease activity, exoribonuclease activity, endoribonuclease activity, endoribonuclease activity, mRNA 3'-UTR binding, mRNA binding, mRNA binding, RNA binding, chromatin binding, DNA binding, GO:2000627, GO:2000379, GO:2000320, GO:1990869, GO:1904637, GO:1903936, GO:1903799, GO:1903003, GO:1901223, GO:1900745, GO:1900119, GO:1900016, GO:0098586, GO:0090503, GO:0090502, GO:0090502, GO:0090501, GO:0071356, GO:0071347, GO:0071222, GO:0071222, GO:0061158, GO:0061158, GO:0061158, GO:0061014, GO:0061014, GO:0055118, GO:0051607, GO:0051259, GO:0050852, GO:0045944, GO:0045766, GO:0045766, GO:0045600, GO:0045019, GO:0044828, GO:0043124, GO:0043124, GO:0043031, GO:0042307, GO:0042149, GO:0034599, GO:0032720, GO:0032720, GO:0032715, GO:0032715, GO:0032691, GO:0032689, GO:0032088, GO:0030154, GO:0016579, GO:0016032, GO:0010942, GO:0010884, GO:0010656, GO:0010629, GO:0010628, GO:0010595, GO:0010508, GO:0010468, GO:0007399, GO:0006974, GO:0006954, GO:0006915, GO:0002757, GO:0002230, GO:0001933, GO:0001525, GO:0000294, GO:0000294, positive regulation of miRNA catabolic process, positive regulation of reactive oxygen species metabolic process, negative regulation of T-helper 17 cell differentiation, cellular response to chemokine, cellular response to ionomycin, cellular response to sodium arsenite, negative regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of protein deubiquitination, negative regulation of NIK/NF-kappaB signaling, positive regulation of p38MAPK cascade, positive regulation of execution phase of apoptosis, negative regulation of cytokine production involved in inflammatory response, cellular response to virus, RNA phosphodiester bond hydrolysis, exonucleolytic, RNA phosphodiester bond hydrolysis, endonucleolytic, RNA phosphodiester bond hydrolysis, endonucleolytic, RNA phosphodiester bond hydrolysis, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, 3'-UTR-mediated mRNA destabilization, 3'-UTR-mediated mRNA destabilization, 3'-UTR-mediated mRNA destabilization, positive regulation of mRNA catabolic process, positive regulation of mRNA catabolic process, negative regulation of cardiac muscle contraction, defense response to virus, protein complex oligomerization, T cell receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of fat cell differentiation, negative regulation of nitric oxide biosynthetic process, negative regulation by host of viral genome replication, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of macrophage activation, positive regulation of protein import into nucleus, cellular response to glucose starvation, cellular response to oxidative stress, negative regulation of tumor necrosis factor production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, negative regulation of interferon-gamma production, negative regulation of NF-kappaB transcription factor activity, cell differentiation, protein deubiquitination, viral process, positive regulation of cell death, positive regulation of lipid storage, negative regulation of muscle cell apoptotic process, negative regulation of gene expression, positive regulation of gene expression, positive regulation of endothelial cell migration, positive regulation of autophagy, regulation of gene expression, nervous system development, cellular response to DNA damage stimulus, inflammatory response, apoptotic process, immune response-activating signal transduction, positive regulation of defense response to virus by host, negative regulation of protein phosphorylation, angiogenesis, nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay, nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay, 870 1027 5158 1119 1287 2541 1290 964 2556 ENSG00000163875 chr1 37492575 37514774 - MEAF6 protein_coding This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 64769 GO:1990468, GO:1990467, GO:0070776, GO:0070776, GO:0035267, GO:0035267, GO:0005730, GO:0005730, GO:0005654, GO:0000777, GO:0000776, NuA3b histone acetyltransferase complex, NuA3a histone acetyltransferase complex, MOZ/MORF histone acetyltransferase complex, MOZ/MORF histone acetyltransferase complex, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, nucleolus, nucleolus, nucleoplasm, condensed chromosome kinetochore, kinetochore, GO:0043994, GO:0005515, histone acetyltransferase activity (H3-K23 specific), protein binding, GO:1901796, GO:0044154, GO:0044154, GO:0043984, GO:0043983, GO:0043983, GO:0043982, GO:0043982, GO:0043981, GO:0043981, GO:0043972, GO:0043968, GO:0043968, regulation of signal transduction by p53 class mediator, histone H3-K14 acetylation, histone H3-K14 acetylation, histone H4-K16 acetylation, histone H4-K12 acetylation, histone H4-K12 acetylation, histone H4-K8 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H4-K5 acetylation, histone H3-K23 acetylation, histone H2A acetylation, histone H2A acetylation, 119 123 167 118 180 164 138 122 122 ENSG00000163877 chr1 37534449 37554344 - SNIP1 protein_coding This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]. 79753 GO:0071005, GO:0005829, GO:0005654, GO:0005634, GO:0005634, U2-type precatalytic spliceosome, cytosol, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0035196, GO:0035196, GO:0007249, GO:0006357, GO:0000398, production of miRNAs involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, I-kappaB kinase/NF-kappaB signaling, regulation of transcription by RNA polymerase II, mRNA splicing, via spliceosome, 920 912 949 1007 1295 1467 1001 743 1119 ENSG00000163879 chr1 37556919 37566857 + DNALI1 protein_coding This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]. 7802 GO:0097729, GO:0036126, GO:0031514, GO:0030286, GO:0030175, GO:0005930, GO:0005930, GO:0005929, GO:0005737, 9+2 motile cilium, sperm flagellum, motile cilium, dynein complex, filopodium, axoneme, axoneme, cilium, cytoplasm, GO:0045504, GO:0005515, GO:0003774, dynein heavy chain binding, protein binding, motor activity, 0 1 0 17 20 37 13 6 5 ENSG00000163882 chr3 184361718 184368596 + POLR2H protein_coding The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 5437 GO:0032993, GO:0005829, GO:0005736, GO:0005666, GO:0005665, GO:0005665, GO:0005654, GO:0005634, protein-DNA complex, cytosol, RNA polymerase I complex, RNA polymerase III complex, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleus, GO:0003899, GO:0003697, DNA-directed 5'-3' RNA polymerase activity, single-stranded DNA binding, GO:0060964, GO:0050434, GO:0045815, GO:0042795, GO:0035019, GO:0032481, GO:0016070, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006351, GO:0006283, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, positive regulation of gene expression, epigenetic, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, positive regulation of type I interferon production, RNA metabolic process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, 12 18 12 42 30 51 33 18 17 ENSG00000163884 chr3 126342635 126357442 - KLF15 protein_coding 28999 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000757, GO:1901653, GO:0072112, GO:0046326, GO:0045944, GO:0032868, GO:0014898, GO:0010001, GO:0006357, GO:0001678, negative regulation of peptidyl-lysine acetylation, cellular response to peptide, glomerular visceral epithelial cell differentiation, positive regulation of glucose import, positive regulation of transcription by RNA polymerase II, response to insulin, cardiac muscle hypertrophy in response to stress, glial cell differentiation, regulation of transcription by RNA polymerase II, cellular glucose homeostasis, 1 0 2 0 0 0 1 0 0 ENSG00000163885 chr3 126394939 126436556 + CFAP100 protein_coding 348807 GO:0097545, GO:0036064, GO:0031514, axonemal outer doublet, ciliary basal body, motile cilium, GO:0070840, dynein complex binding, GO:2000574, GO:0036159, GO:0003341, regulation of microtubule motor activity, inner dynein arm assembly, cilium movement, 5 6 5 3 7 2 9 2 14 ENSG00000163888 chr3 184259213 184261463 - CAMK2N2 protein_coding This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008]. 94032 GO:0005829, GO:0005813, GO:0005654, cytosol, centrosome, nucleoplasm, GO:0019901, GO:0008427, protein kinase binding, calcium-dependent protein kinase inhibitor activity, GO:0006469, negative regulation of protein kinase activity, 0 0 0 0 0 3 3 0 0 ENSG00000163898 chr3 185506262 185552613 - LIPH protein_coding This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]. 200879 GO:0005886, GO:0005886, GO:0005615, GO:0005615, plasma membrane, plasma membrane, extracellular space, extracellular space, GO:0016298, GO:0008201, GO:0004620, GO:0004620, GO:0004465, lipase activity, heparin binding, phospholipase activity, phospholipase activity, lipoprotein lipase activity, GO:0019433, GO:0016042, GO:0016042, GO:0006654, GO:0006633, triglyceride catabolic process, lipid catabolic process, lipid catabolic process, phosphatidic acid biosynthetic process, fatty acid biosynthetic process, 0 0 1 0 0 0 0 0 0 ENSG00000163900 chr3 185476496 185499057 - TMEM41A protein_coding 90407 GO:0016021, integral component of membrane, GO:0005515, protein binding, 15 21 21 42 41 79 23 30 36 ENSG00000163902 chr3 128619970 128681075 - RPN1 protein_coding This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008]. 6184 GO:0042470, GO:0016021, GO:0016020, GO:0008250, GO:0008250, GO:0008250, GO:0005829, GO:0005791, GO:0005789, GO:0005783, melanosome, integral component of membrane, membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, oligosaccharyltransferase complex, cytosol, rough endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, GO:0004579, GO:0003723, protein binding, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, RNA binding, GO:0018279, GO:0018279, GO:0018279, GO:0006487, GO:0006464, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation, cellular protein modification process, 1794 1799 2173 519 1094 775 603 986 725 ENSG00000163904 chr3 185582496 185633551 + SENP2 protein_coding SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004]. 59343 GO:0031965, GO:0016605, GO:0005829, GO:0005654, GO:0005643, GO:0005634, nuclear membrane, PML body, cytosol, nucleoplasm, nuclear pore, nucleus, GO:0070140, GO:0070139, GO:0019904, GO:0016929, GO:0005515, SUMO-specific isopeptidase activity, SUMO-specific endopeptidase activity, protein domain specific binding, SUMO-specific protease activity, protein binding, GO:2000045, GO:0060711, GO:0060707, GO:0051028, GO:0045944, GO:0045444, GO:0035562, GO:0032875, GO:0032091, GO:0031648, GO:0031398, GO:0031397, GO:0030111, GO:0016926, GO:0016926, GO:0016926, GO:0016925, GO:0016055, GO:0015031, GO:0009950, GO:0007507, GO:0001934, regulation of G1/S transition of mitotic cell cycle, labyrinthine layer development, trophoblast giant cell differentiation, mRNA transport, positive regulation of transcription by RNA polymerase II, fat cell differentiation, negative regulation of chromatin binding, regulation of DNA endoreduplication, negative regulation of protein binding, protein destabilization, positive regulation of protein ubiquitination, negative regulation of protein ubiquitination, regulation of Wnt signaling pathway, protein desumoylation, protein desumoylation, protein desumoylation, protein sumoylation, Wnt signaling pathway, protein transport, dorsal/ventral axis specification, heart development, positive regulation of protein phosphorylation, 763 751 1219 394 567 588 446 454 503 ENSG00000163909 chr1 39624153 39639945 - HEYL protein_coding This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 26508 GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0050683, GO:0042803, GO:0008134, GO:0005515, GO:0003700, GO:0001228, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000978, AF-1 domain binding, protein homodimerization activity, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071773, GO:0061314, GO:0060766, GO:0060412, GO:0060317, GO:0050767, GO:0045944, GO:0045892, GO:0045666, GO:0043433, GO:0032835, GO:0014031, GO:0009952, GO:0007221, GO:0007219, GO:0006357, GO:0003208, GO:0003203, GO:0003198, GO:0003198, GO:0003184, GO:0003181, GO:0003180, GO:0003151, GO:0000122, cellular response to BMP stimulus, Notch signaling involved in heart development, negative regulation of androgen receptor signaling pathway, ventricular septum morphogenesis, cardiac epithelial to mesenchymal transition, regulation of neurogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of neuron differentiation, negative regulation of DNA-binding transcription factor activity, glomerulus development, mesenchymal cell development, anterior/posterior pattern specification, positive regulation of transcription of Notch receptor target, Notch signaling pathway, regulation of transcription by RNA polymerase II, cardiac ventricle morphogenesis, endocardial cushion morphogenesis, epithelial to mesenchymal transition involved in endocardial cushion formation, epithelial to mesenchymal transition involved in endocardial cushion formation, pulmonary valve morphogenesis, atrioventricular valve morphogenesis, aortic valve morphogenesis, outflow tract morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000163913 chr3 129440036 129520507 + IFT122 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 55764 GO:0097730, GO:0097546, GO:0097542, GO:0036064, GO:0032391, GO:0030991, GO:0030991, GO:0016020, GO:0005929, GO:0005929, GO:0005929, GO:0005829, GO:0005654, non-motile cilium, ciliary base, ciliary tip, ciliary basal body, photoreceptor connecting cilium, intraciliary transport particle A, intraciliary transport particle A, membrane, cilium, cilium, cilium, cytosol, nucleoplasm, GO:0005515, protein binding, GO:1905515, GO:0072594, GO:0061512, GO:0061512, GO:0060971, GO:0060831, GO:0060830, GO:0060271, GO:0060271, GO:0060173, GO:0050680, GO:0048593, GO:0045879, GO:0042733, GO:0042073, GO:0035735, GO:0035721, GO:0035721, GO:0035720, GO:0035115, GO:0035050, GO:0021914, GO:0010172, GO:0007227, GO:0001843, non-motile cilium assembly, establishment of protein localization to organelle, protein localization to cilium, protein localization to cilium, embryonic heart tube left/right pattern formation, smoothened signaling pathway involved in dorsal/ventral neural tube patterning, ciliary receptor clustering involved in smoothened signaling pathway, cilium assembly, cilium assembly, limb development, negative regulation of epithelial cell proliferation, camera-type eye morphogenesis, negative regulation of smoothened signaling pathway, embryonic digit morphogenesis, intraciliary transport, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, intraciliary retrograde transport, intraciliary anterograde transport, embryonic forelimb morphogenesis, embryonic heart tube development, negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning, embryonic body morphogenesis, signal transduction downstream of smoothened, neural tube closure, 95 115 117 106 163 126 94 103 83 ENSG00000163914 chr3 129528640 129535169 + RHO protein_coding The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]. 6010 GO:0097381, GO:0097381, GO:0060342, GO:0060170, GO:0042622, GO:0030660, GO:0016021, GO:0005911, GO:0005887, GO:0005886, GO:0005794, GO:0001917, GO:0001750, GO:0001750, GO:0000139, photoreceptor disc membrane, photoreceptor disc membrane, photoreceptor inner segment membrane, ciliary membrane, photoreceptor outer segment membrane, Golgi-associated vesicle membrane, integral component of membrane, cell-cell junction, integral component of plasma membrane, plasma membrane, Golgi apparatus, photoreceptor inner segment, photoreceptor outer segment, photoreceptor outer segment, Golgi membrane, GO:0046872, GO:0008020, GO:0008020, GO:0005515, GO:0005502, GO:0004930, metal ion binding, G protein-coupled photoreceptor activity, G protein-coupled photoreceptor activity, protein binding, 11-cis retinal binding, G protein-coupled receptor activity, GO:0071482, GO:0060041, GO:0045494, GO:0022400, GO:0018298, GO:0016056, GO:0016038, GO:0007603, GO:0007602, GO:0007601, GO:0007186, GO:0007186, GO:0007186, GO:0006468, GO:0001523, cellular response to light stimulus, retina development in camera-type eye, photoreceptor cell maintenance, regulation of rhodopsin mediated signaling pathway, protein-chromophore linkage, rhodopsin mediated signaling pathway, absorption of visible light, phototransduction, visible light, phototransduction, visual perception, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, protein phosphorylation, retinoid metabolic process, 0 0 2 0 0 0 0 0 0 ENSG00000163915 chr3 185712528 185729787 + IGF2BP2-AS1 antisense 646600 0 0 1 0 0 0 0 0 0 ENSG00000163918 chr3 186789880 186807058 - RFC4 protein_coding The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. 5984 GO:0031391, GO:0031390, GO:0005663, GO:0005663, GO:0005654, GO:0005654, GO:0005634, Elg1 RFC-like complex, Ctf18 RFC-like complex, DNA replication factor C complex, DNA replication factor C complex, nucleoplasm, nucleoplasm, nucleus, GO:0019899, GO:0017116, GO:0005524, GO:0005515, GO:0003689, GO:0003689, enzyme binding, single-stranded DNA helicase activity, ATP binding, protein binding, DNA clamp loader activity, DNA clamp loader activity, GO:1901796, GO:1900264, GO:0070987, GO:0042769, GO:0042276, GO:0033683, GO:0032508, GO:0032201, GO:0019985, GO:0006297, GO:0006296, GO:0006283, GO:0006281, GO:0006271, GO:0006261, GO:0006260, regulation of signal transduction by p53 class mediator, positive regulation of DNA-directed DNA polymerase activity, error-free translesion synthesis, DNA damage response, detection of DNA damage, error-prone translesion synthesis, nucleotide-excision repair, DNA incision, DNA duplex unwinding, telomere maintenance via semi-conservative replication, translesion synthesis, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA repair, DNA strand elongation involved in DNA replication, DNA-dependent DNA replication, DNA replication, 11 2 7 23 15 56 34 11 35 ENSG00000163923 chr3 187120948 187180908 - RPL39L protein_coding This gene encodes a protein sharing high sequence similarity with ribosomal protein L39. Although the name of this gene has been referred to as 'ribosomal protein L39' in the public databases, its official name is 'ribosomal protein L39-like'. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]. 116832 GO:0022625, GO:0022625, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, GO:0005515, GO:0003735, protein binding, structural constituent of ribosome, GO:0007283, GO:0006412, spermatogenesis, translation, 0 0 0 6 1 2 1 4 1 ENSG00000163930 chr3 52401013 52410350 - BAP1 protein_coding This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]. 8314 GO:0035517, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, PR-DUB complex, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0008234, GO:0008233, GO:0005515, GO:0004843, GO:0004843, GO:0003682, cysteine-type peptidase activity, peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, chromatin binding, GO:1903955, GO:1900015, GO:0071108, GO:0061519, GO:0051726, GO:0045892, GO:0035522, GO:0035520, GO:0016579, GO:0016579, GO:0016579, GO:0010035, GO:0008285, GO:0006511, GO:0006464, GO:0001558, positive regulation of protein targeting to mitochondrion, regulation of cytokine production involved in inflammatory response, protein K48-linked deubiquitination, macrophage homeostasis, regulation of cell cycle, negative regulation of transcription, DNA-templated, monoubiquitinated histone H2A deubiquitination, monoubiquitinated protein deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, response to inorganic substance, negative regulation of cell population proliferation, ubiquitin-dependent protein catabolic process, cellular protein modification process, regulation of cell growth, 1605 1658 1943 1328 1531 1507 1323 1099 1307 ENSG00000163931 chr3 53224707 53256052 - TKT protein_coding This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]. 7086 GO:0070062, GO:0031982, GO:0016607, GO:0016604, GO:0005829, GO:0005789, GO:0005777, GO:0005654, extracellular exosome, vesicle, nuclear speck, nuclear body, cytosol, endoplasmic reticulum membrane, peroxisome, nucleoplasm, GO:0042803, GO:0030976, GO:0005515, GO:0005509, GO:0004802, GO:0004802, GO:0000287, protein homodimerization activity, thiamine pyrophosphate binding, protein binding, calcium ion binding, transketolase activity, transketolase activity, magnesium ion binding, GO:0046390, GO:0046166, GO:0040008, GO:0009052, GO:0009052, GO:0006098, GO:0006098, GO:0005999, ribose phosphate biosynthetic process, glyceraldehyde-3-phosphate biosynthetic process, regulation of growth, pentose-phosphate shunt, non-oxidative branch, pentose-phosphate shunt, non-oxidative branch, pentose-phosphate shunt, pentose-phosphate shunt, xylulose biosynthetic process, 7612 7557 9780 2383 5041 4145 3265 4913 3973 ENSG00000163932 chr3 53156009 53192717 + PRKCD protein_coding The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]. 5580 GO:0070062, GO:0048471, GO:0035578, GO:0016363, GO:0005911, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005783, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, azurophil granule lumen, nuclear matrix, cell-cell junction, plasma membrane, plasma membrane, cytosol, cytosol, endoplasmic reticulum, mitochondrion, cytoplasm, nucleoplasm, nucleus, extracellular region, GO:0046872, GO:0043560, GO:0019901, GO:0019900, GO:0019899, GO:0019899, GO:0008047, GO:0005524, GO:0005515, GO:0004715, GO:0004699, GO:0004698, GO:0004697, GO:0004674, GO:0004674, GO:0004674, GO:0004672, metal ion binding, insulin receptor substrate binding, protein kinase binding, kinase binding, enzyme binding, enzyme binding, enzyme activator activity, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, calcium-independent protein kinase C activity, calcium-dependent protein kinase C activity, protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2001235, GO:2001022, GO:2000755, GO:2000753, GO:2000304, GO:1904385, GO:1900163, GO:0090398, GO:0090331, GO:0071447, GO:0070301, GO:0060333, GO:0060326, GO:0051490, GO:0050821, GO:0050732, GO:0050728, GO:0046627, GO:0046627, GO:0043488, GO:0043407, GO:0043312, GO:0042742, GO:0042307, GO:0042119, GO:0042100, GO:0038096, GO:0035556, GO:0035307, GO:0034351, GO:0032956, GO:0032930, GO:0032615, GO:0032613, GO:0032147, GO:0032091, GO:0032079, GO:0030837, GO:0030168, GO:0023021, GO:0018108, GO:0018107, GO:0018105, GO:0018105, GO:0016572, GO:0016064, GO:0010469, GO:0008631, GO:0007165, GO:0007049, GO:0006915, GO:0006468, GO:0002223, positive regulation of apoptotic signaling pathway, positive regulation of response to DNA damage stimulus, positive regulation of sphingomyelin catabolic process, positive regulation of glucosylceramide catabolic process, positive regulation of ceramide biosynthetic process, cellular response to angiotensin, positive regulation of phospholipid scramblase activity, cellular senescence, negative regulation of platelet aggregation, cellular response to hydroperoxide, cellular response to hydrogen peroxide, interferon-gamma-mediated signaling pathway, cell chemotaxis, negative regulation of filopodium assembly, protein stabilization, negative regulation of peptidyl-tyrosine phosphorylation, negative regulation of inflammatory response, negative regulation of insulin receptor signaling pathway, negative regulation of insulin receptor signaling pathway, regulation of mRNA stability, negative regulation of MAP kinase activity, neutrophil degranulation, defense response to bacterium, positive regulation of protein import into nucleus, neutrophil activation, B cell proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, intracellular signal transduction, positive regulation of protein dephosphorylation, negative regulation of glial cell apoptotic process, regulation of actin cytoskeleton organization, positive regulation of superoxide anion generation, interleukin-12 production, interleukin-10 production, activation of protein kinase activity, negative regulation of protein binding, positive regulation of endodeoxyribonuclease activity, negative regulation of actin filament polymerization, platelet activation, termination of signal transduction, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, histone phosphorylation, immunoglobulin mediated immune response, regulation of signaling receptor activity, intrinsic apoptotic signaling pathway in response to oxidative stress, signal transduction, cell cycle, apoptotic process, protein phosphorylation, stimulatory C-type lectin receptor signaling pathway, 3767 2979 6333 2559 2703 3223 2715 2074 2618 ENSG00000163933 chr3 53088483 53130462 - RFT1 protein_coding This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]. 91869 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0034203, GO:0008643, GO:0006488, glycolipid translocation, carbohydrate transport, dolichol-linked oligosaccharide biosynthetic process, 59 53 150 110 164 294 152 149 272 ENSG00000163935 chr3 52903572 53046750 - SFMBT1 protein_coding This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]. 51460 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0042393, GO:0005515, GO:0003714, GO:0003682, histone binding, histone binding, protein binding, transcription corepressor activity, chromatin binding, GO:0048635, GO:0045892, GO:0045892, GO:0045892, GO:0030154, GO:0007283, GO:0006325, negative regulation of muscle organ development, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, cell differentiation, spermatogenesis, chromatin organization, 26 19 55 41 23 42 28 10 22 ENSG00000163938 chr3 52681156 52694492 + GNL3 protein_coding The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 26354 GO:0016604, GO:0016020, GO:0005730, GO:0005730, GO:0005730, GO:0005634, GO:0005615, nuclear body, membrane, nucleolus, nucleolus, nucleolus, nucleus, extracellular space, GO:0048027, GO:0005525, GO:0005515, GO:0003723, mRNA 5'-UTR binding, GTP binding, protein binding, RNA binding, GO:1904816, GO:1902895, GO:0042127, GO:0033235, GO:0032206, GO:0019827, GO:0017145, GO:0008283, positive regulation of protein localization to chromosome, telomeric region, positive regulation of pri-miRNA transcription by RNA polymerase II, regulation of cell population proliferation, positive regulation of protein sumoylation, positive regulation of telomere maintenance, stem cell population maintenance, stem cell division, cell population proliferation, 53 59 97 224 142 204 207 97 134 ENSG00000163939 chr3 52545352 52685917 - PBRM1 protein_coding This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]. 55193 GO:0016586, GO:0005654, GO:0000228, RSC-type complex, nucleoplasm, nuclear chromosome, GO:0070577, GO:0015616, GO:0005515, GO:0003682, GO:0003682, GO:0003677, lysine-acetylated histone binding, DNA translocase activity, protein binding, chromatin binding, chromatin binding, DNA binding, GO:0043044, GO:0008285, GO:0006338, GO:0000278, ATP-dependent chromatin remodeling, negative regulation of cell population proliferation, chromatin remodeling, mitotic cell cycle, 421 448 592 367 381 416 361 290 346 ENSG00000163945 chr4 1347266 1395992 + UVSSA protein_coding The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 57654 GO:0005694, GO:0005694, GO:0005654, chromosome, chromosome, nucleoplasm, GO:0005515, GO:0000993, GO:0000993, GO:0000993, protein binding, RNA polymerase II complex binding, RNA polymerase II complex binding, RNA polymerase II complex binding, GO:0016567, GO:0009411, GO:0009411, GO:0006283, GO:0006283, GO:0006283, protein ubiquitination, response to UV, response to UV, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, 800 877 1054 738 878 922 953 696 851 ENSG00000163946 chr3 56620133 56683237 - FAM208A protein_coding 23272 GO:0005654, GO:0000792, nucleoplasm, heterochromatin, GO:0005515, GO:0003723, GO:0003682, protein binding, RNA binding, chromatin binding, GO:0097355, GO:0090309, GO:0090307, GO:0060809, GO:0045869, GO:0045814, GO:0008595, GO:0001701, protein localization to heterochromatin, positive regulation of DNA methylation-dependent heterochromatin assembly, mitotic spindle assembly, mesodermal to mesenchymal transition involved in gastrulation, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of gene expression, epigenetic, anterior/posterior axis specification, embryo, in utero embryonic development, 392 416 564 457 416 597 391 275 489 ENSG00000163947 chr3 56727418 57079329 - ARHGEF3 protein_coding Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 50650 GO:0005829, cytosol, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0043065, GO:0035025, GO:0007266, GO:0007186, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, positive regulation of Rho protein signal transduction, Rho protein signal transduction, G protein-coupled receptor signaling pathway, 98 66 185 268 130 305 214 124 263 ENSG00000163950 chr4 1692800 1712555 - SLBP protein_coding This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq, Jul 2008]. 7884 GO:1990904, GO:0071204, GO:0071204, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, histone pre-mRNA 3'end processing complex, histone pre-mRNA 3'end processing complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0071208, GO:0071207, GO:0071207, GO:0042802, GO:0005515, GO:0003729, GO:0003729, GO:0003723, histone pre-mRNA DCP binding, histone pre-mRNA stem-loop binding, histone pre-mRNA stem-loop binding, identical protein binding, protein binding, mRNA binding, mRNA binding, RNA binding, GO:0051028, GO:0051028, GO:0008334, GO:0006406, GO:0006398, GO:0006398, GO:0006369, mRNA transport, mRNA transport, histone mRNA metabolic process, mRNA export from nucleus, mRNA 3'-end processing by stem-loop binding and cleavage, mRNA 3'-end processing by stem-loop binding and cleavage, termination of RNA polymerase II transcription, 534 497 426 205 373 284 248 398 243 ENSG00000163956 chr4 3503597 3532559 - LRPAP1 protein_coding This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 4043 GO:0048237, GO:0048237, GO:0031904, GO:0012505, GO:0009986, GO:0005886, GO:0005886, GO:0005801, GO:0005801, GO:0005796, GO:0005794, GO:0005793, GO:0005793, GO:0005783, GO:0005768, GO:0005768, GO:0005576, rough endoplasmic reticulum lumen, rough endoplasmic reticulum lumen, endosome lumen, endomembrane system, cell surface, plasma membrane, plasma membrane, cis-Golgi network, cis-Golgi network, Golgi lumen, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, endosome, endosome, extracellular region, GO:0070326, GO:0070326, GO:0050750, GO:0050750, GO:0050750, GO:0048019, GO:0048019, GO:0048019, GO:0048018, GO:0035473, GO:0008201, GO:0005515, GO:0005102, GO:0001540, very-low-density lipoprotein particle receptor binding, very-low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, receptor antagonist activity, receptor antagonist activity, receptor antagonist activity, receptor ligand activity, lipase binding, heparin binding, protein binding, signaling receptor binding, amyloid-beta binding, GO:2000272, GO:1900223, GO:1900222, GO:1900116, GO:0150093, GO:0060548, GO:0048259, GO:0048259, GO:0032091, GO:0010916, GO:0010916, GO:0007165, GO:0002091, GO:0002091, negative regulation of signaling receptor activity, positive regulation of amyloid-beta clearance, negative regulation of amyloid-beta clearance, extracellular negative regulation of signal transduction, amyloid-beta clearance by transcytosis, negative regulation of cell death, regulation of receptor-mediated endocytosis, regulation of receptor-mediated endocytosis, negative regulation of protein binding, negative regulation of very-low-density lipoprotein particle clearance, negative regulation of very-low-density lipoprotein particle clearance, signal transduction, negative regulation of receptor internalization, negative regulation of receptor internalization, 765 1149 984 418 968 650 544 831 555 ENSG00000163958 chr3 196197449 196211437 - ZDHHC19 protein_coding 131540 GO:0048471, GO:0016021, GO:0005794, GO:0005783, GO:0005783, GO:0000139, perinuclear region of cytoplasm, integral component of membrane, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0019706, GO:0019706, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, GO:0018230, GO:0018230, GO:0006612, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 24 17 31 14 18 31 26 21 16 ENSG00000163959 chr3 196211487 196243178 + SLC51A protein_coding 200931 GO:0032991, GO:0016323, GO:0016021, GO:0016021, GO:0005886, GO:0005886, GO:0005789, GO:0005789, protein-containing complex, basolateral plasma membrane, integral component of membrane, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0046982, GO:0042803, GO:0015125, GO:0005515, GO:0005215, protein heterodimerization activity, protein homodimerization activity, bile acid transmembrane transporter activity, protein binding, transporter activity, GO:0055085, GO:0032782, GO:0015721, GO:0015721, GO:0006810, transmembrane transport, bile acid secretion, bile acid and bile salt transport, bile acid and bile salt transport, transport, 267 204 295 248 256 239 250 165 176 ENSG00000163960 chr3 196347662 196432474 - UBXN7 protein_coding 26043 GO:0034098, GO:0016604, GO:0005829, GO:0005654, VCP-NPL4-UFD1 AAA ATPase complex, nuclear body, cytosol, nucleoplasm, GO:0043130, GO:0031625, GO:0008134, GO:0005515, ubiquitin binding, ubiquitin protein ligase binding, transcription factor binding, protein binding, GO:0043687, post-translational protein modification, 1252 1362 1542 716 1253 1414 965 1001 1270 ENSG00000163961 chr3 196468783 196503768 - RNF168 protein_coding This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]. 165918 GO:0035861, GO:0032991, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000151, site of double-strand break, protein-containing complex, cytosol, nucleoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0070530, GO:0046872, GO:0043130, GO:0042393, GO:0042393, GO:0031491, GO:0005515, GO:0004842, GO:0004842, GO:0003682, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, ubiquitin binding, histone binding, histone binding, nucleosome binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, chromatin binding, GO:0070535, GO:0070535, GO:0070534, GO:0045739, GO:0045739, GO:0045190, GO:0036352, GO:0036352, GO:0036351, GO:0036297, GO:0035518, GO:0035518, GO:0034244, GO:0016567, GO:0010212, GO:0006974, GO:0006511, GO:0006303, GO:0006302, histone H2A K63-linked ubiquitination, histone H2A K63-linked ubiquitination, protein K63-linked ubiquitination, positive regulation of DNA repair, positive regulation of DNA repair, isotype switching, histone H2A-K15 ubiquitination, histone H2A-K15 ubiquitination, histone H2A-K13 ubiquitination, interstrand cross-link repair, histone H2A monoubiquitination, histone H2A monoubiquitination, negative regulation of transcription elongation from RNA polymerase II promoter, protein ubiquitination, response to ionizing radiation, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, double-strand break repair via nonhomologous end joining, double-strand break repair, 221 337 465 131 216 238 142 175 230 ENSG00000163964 chr3 196639775 196736007 + PIGX protein_coding This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 54965 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0016254, preassembly of GPI anchor in ER membrane, 1339 1260 1177 230 619 346 333 531 306 ENSG00000163975 chr3 196988621 197029816 - MELTF protein_coding The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]. 4241 GO:0070062, GO:0055037, GO:0046658, GO:0009986, GO:0005886, GO:0005886, GO:0005788, GO:0005769, GO:0005615, GO:0005576, extracellular exosome, recycling endosome, anchored component of plasma membrane, cell surface, plasma membrane, plasma membrane, endoplasmic reticulum lumen, early endosome, extracellular space, extracellular region, GO:0005515, GO:0005506, protein binding, iron ion binding, GO:1900025, GO:0090091, GO:0055072, GO:0044267, GO:0043687, GO:0042127, GO:0010756, GO:0006826, GO:0006826, GO:0001558, negative regulation of substrate adhesion-dependent cell spreading, positive regulation of extracellular matrix disassembly, iron ion homeostasis, cellular protein metabolic process, post-translational protein modification, regulation of cell population proliferation, positive regulation of plasminogen activation, iron ion transport, iron ion transport, regulation of cell growth, 14 17 46 123 43 144 107 48 87 ENSG00000163982 chr4 4188803 4226889 - OTOP1 protein_coding This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of linear acceleration and gravity. This gene modulates purinergic control of intracellular calcium in vestibular supporting cells. Naturally occurring mutations in the orthologous mouse gene are associated with nonsyndromic otoconia agenesis and a consequent balance defect. The orthologous mouse gene is also induced in white adipose tissue during obesity. The encoded protein is a component of a counterinflammatory pathway that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity. [provided by RefSeq, Jul 2017]. 133060 GO:0005887, integral component of plasma membrane, GO:0015252, proton channel activity, GO:1902600, GO:0060336, GO:0042472, GO:0032869, GO:0031214, GO:0009590, proton transmembrane transport, negative regulation of interferon-gamma-mediated signaling pathway, inner ear morphogenesis, cellular response to insulin stimulus, biomineral tissue development, detection of gravity, 0 0 0 0 0 0 0 0 0 ENSG00000163993 chr4 6693069 6697170 + S100P protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq, Jul 2008]. 6286 GO:0070062, GO:0034774, GO:0031528, GO:0016604, GO:0016604, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005576, extracellular exosome, secretory granule lumen, microvillus membrane, nuclear body, nuclear body, cytoplasm, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0050786, GO:0048306, GO:0048306, GO:0046914, GO:0045296, GO:0042803, GO:0005515, GO:0005509, GO:0000287, RAGE receptor binding, calcium-dependent protein binding, calcium-dependent protein binding, transition metal ion binding, cadherin binding, protein homodimerization activity, protein binding, calcium ion binding, magnesium ion binding, GO:0043542, GO:0043542, GO:0043312, GO:0010033, endothelial cell migration, endothelial cell migration, neutrophil degranulation, response to organic substance, 410 233 230 2550 2347 2468 2606 2454 1997 ENSG00000163995 chr4 7965310 8158832 - ABLIM2 protein_coding 84448 GO:0015629, GO:0015629, GO:0005737, actin cytoskeleton, actin cytoskeleton, cytoplasm, GO:0051015, GO:0046872, actin filament binding, metal ion binding, GO:0030036, GO:0030032, GO:0006351, actin cytoskeleton organization, lamellipodium assembly, transcription, DNA-templated, 0 3 0 5 0 4 2 3 1 ENSG00000164002 chr1 40508741 40516556 + EXO5 protein_coding The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]. 64789 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0051539, GO:0046872, GO:0045145, GO:0045145, GO:0008310, GO:0003677, 4 iron, 4 sulfur cluster binding, metal ion binding, single-stranded DNA 5'-3' exodeoxyribonuclease activity, single-stranded DNA 5'-3' exodeoxyribonuclease activity, single-stranded DNA 3'-5' exodeoxyribonuclease activity, DNA binding, GO:0090305, GO:0036297, GO:0036297, nucleic acid phosphodiester bond hydrolysis, interstrand cross-link repair, interstrand cross-link repair, 18 3 20 20 9 18 25 10 18 ENSG00000164007 chr1 42733093 42740254 - CLDN19 protein_coding The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]. 149461 GO:0048471, GO:0043296, GO:0043296, GO:0016323, GO:0016021, GO:0005923, GO:0005923, GO:0005923, GO:0005886, GO:0005634, perinuclear region of cytoplasm, apical junction complex, apical junction complex, basolateral plasma membrane, integral component of membrane, bicellular tight junction, bicellular tight junction, bicellular tight junction, plasma membrane, nucleus, GO:0042802, GO:0005198, identical protein binding, structural molecule activity, GO:1901890, GO:0150111, GO:0070830, GO:0061045, GO:0050896, GO:0031532, GO:0030336, GO:0019227, GO:0016338, GO:0010629, GO:0010628, GO:0008285, GO:0007601, GO:0007155, GO:0001934, positive regulation of cell junction assembly, regulation of transepithelial transport, bicellular tight junction assembly, negative regulation of wound healing, response to stimulus, actin cytoskeleton reorganization, negative regulation of cell migration, neuronal action potential propagation, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cell population proliferation, visual perception, cell adhesion, positive regulation of protein phosphorylation, 1 0 0 0 4 3 9 4 0 ENSG00000164008 chr1 42767269 42779488 + C1orf50 protein_coding 79078 GO:0042802, GO:0005515, identical protein binding, protein binding, 19 30 28 16 12 56 26 14 15 ENSG00000164010 chr1 42817088 42844993 + ERMAP protein_coding The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 114625 GO:0016021, GO:0009897, GO:0005886, GO:0005829, GO:0005794, integral component of membrane, external side of plasma membrane, plasma membrane, cytosol, Golgi apparatus, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0050852, GO:0001817, T cell receptor signaling pathway, regulation of cytokine production, 64 66 92 70 83 74 81 59 58 ENSG00000164011 chr1 42846573 42852477 + ZNF691 protein_coding 51058 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 13 3 12 15 17 4 4 9 16 ENSG00000164022 chr4 106315544 106349226 + AIMP1 protein_coding The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]. 9255 GO:0017101, GO:0016020, GO:0009986, GO:0005829, GO:0005829, GO:0005794, GO:0005783, GO:0005634, GO:0005615, aminoacyl-tRNA synthetase multienzyme complex, membrane, cell surface, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum, nucleus, extracellular space, GO:0051020, GO:0042803, GO:0005515, GO:0005125, GO:0000049, GTPase binding, protein homodimerization activity, protein binding, cytokine activity, tRNA binding, GO:0070094, GO:0051607, GO:0050900, GO:0007267, GO:0007165, GO:0006954, GO:0006915, GO:0006418, GO:0001937, GO:0001525, positive regulation of glucagon secretion, defense response to virus, leukocyte migration, cell-cell signaling, signal transduction, inflammatory response, apoptotic process, tRNA aminoacylation for protein translation, negative regulation of endothelial cell proliferation, angiogenesis, 50 30 86 105 37 125 91 57 81 ENSG00000164023 chr4 107824563 107915047 + SGMS2 protein_coding Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]. 166929 GO:0030176, GO:0030173, GO:0030173, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, integral component of Golgi membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0047493, GO:0047493, GO:0033188, GO:0033188, GO:0033188, GO:0016301, GO:0005515, GO:0002950, ceramide cholinephosphotransferase activity, ceramide cholinephosphotransferase activity, sphingomyelin synthase activity, sphingomyelin synthase activity, sphingomyelin synthase activity, kinase activity, protein binding, ceramide phosphoethanolamine synthase activity, GO:1905373, GO:0046513, GO:0030500, GO:0030148, GO:0016310, GO:0006686, GO:0006686, ceramide phosphoethanolamine biosynthetic process, ceramide biosynthetic process, regulation of bone mineralization, sphingolipid biosynthetic process, phosphorylation, sphingomyelin biosynthetic process, sphingomyelin biosynthetic process, 29 39 64 16 11 22 17 13 9 ENSG00000164024 chr4 98995620 99062813 + METAP1 protein_coding 23173 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0070006, GO:0046872, GO:0008235, GO:0005515, GO:0004177, metalloaminopeptidase activity, metal ion binding, metalloexopeptidase activity, protein binding, aminopeptidase activity, GO:0070527, GO:0070084, GO:0031365, GO:0022400, GO:0018206, GO:0006508, GO:0006417, platelet aggregation, protein initiator methionine removal, N-terminal protein amino acid modification, regulation of rhodopsin mediated signaling pathway, peptidyl-methionine modification, proteolysis, regulation of translation, 55 74 74 133 98 104 108 41 64 ENSG00000164031 chr4 99896248 99946726 - DNAJB14 protein_coding 79982 GO:0031965, GO:0016021, GO:0016020, GO:0005789, GO:0005783, nuclear membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0030544, GO:0030544, Hsp70 protein binding, Hsp70 protein binding, GO:0071218, GO:0051085, GO:0051085, GO:0034622, GO:0030433, GO:0016032, cellular response to misfolded protein, chaperone cofactor-dependent protein refolding, chaperone cofactor-dependent protein refolding, cellular protein-containing complex assembly, ubiquitin-dependent ERAD pathway, viral process, 479 498 571 423 520 520 448 429 376 ENSG00000164032 chr4 99948086 99950388 - H2AFZ protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]. 3015 GO:0070062, GO:0005634, GO:0005634, GO:0001740, GO:0000792, GO:0000791, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, Barr body, heterochromatin, euchromatin, nucleosome, chromatin, GO:0046982, GO:0031492, GO:0031490, GO:0005515, GO:0003677, GO:0000979, GO:0000978, protein heterodimerization activity, nucleosomal DNA binding, chromatin DNA binding, protein binding, DNA binding, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071392, GO:0045944, GO:0006342, cellular response to estradiol stimulus, positive regulation of transcription by RNA polymerase II, chromatin silencing, 1517 1228 1589 1483 2242 2017 1143 1239 1525 ENSG00000164035 chr4 100395341 100880126 - EMCN protein_coding EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]. 51705 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000164037 chr4 102885048 103019739 - SLC9B1 protein_coding The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 150159 GO:0097228, GO:0016021, GO:0005886, sperm principal piece, integral component of membrane, plasma membrane, GO:0015299, solute:proton antiporter activity, GO:1902600, GO:0051453, GO:0034220, GO:0030317, GO:0015672, GO:0007338, GO:0006814, proton transmembrane transport, regulation of intracellular pH, ion transmembrane transport, flagellated sperm motility, monovalent inorganic cation transport, single fertilization, sodium ion transport, 15 20 18 19 15 27 17 21 17 ENSG00000164038 chr4 103019868 103085829 - SLC9B2 protein_coding Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008]. 133308 GO:0097228, GO:0031966, GO:0030672, GO:0016324, GO:0016323, GO:0016021, GO:0010008, GO:0005886, GO:0005743, sperm principal piece, mitochondrial membrane, synaptic vesicle membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, endosome membrane, plasma membrane, mitochondrial inner membrane, GO:0042802, GO:0015385, GO:0010348, GO:0005515, GO:0005451, identical protein binding, sodium:proton antiporter activity, lithium:proton antiporter activity, protein binding, monovalent cation:proton antiporter activity, GO:2001206, GO:1902600, GO:0072583, GO:0061178, GO:0035725, GO:0034220, GO:0030317, GO:0015672, GO:0006814, positive regulation of osteoclast development, proton transmembrane transport, clathrin-dependent endocytosis, regulation of insulin secretion involved in cellular response to glucose stimulus, sodium ion transmembrane transport, ion transmembrane transport, flagellated sperm motility, monovalent inorganic cation transport, sodium ion transport, 3 11 15 46 6 33 46 26 19 ENSG00000164039 chr4 103079435 103099883 - BDH2 protein_coding 56898 GO:0070062, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, extracellular exosome, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, GO:0051287, GO:0016628, GO:0016616, GO:0005515, GO:0003858, GO:0003858, NAD binding, oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, 3-hydroxybutyrate dehydrogenase activity, 3-hydroxybutyrate dehydrogenase activity, GO:0055072, GO:0055072, GO:0046951, GO:0042168, GO:0030855, GO:0019290, GO:0019290, GO:0006635, iron ion homeostasis, iron ion homeostasis, ketone body biosynthetic process, heme metabolic process, epithelial cell differentiation, siderophore biosynthetic process, siderophore biosynthetic process, fatty acid beta-oxidation, 4 4 9 9 4 18 8 4 6 ENSG00000164040 chr4 128269237 128288829 - PGRMC2 protein_coding 10424 GO:0016021, GO:0016020, GO:0016020, GO:0012505, GO:0005783, GO:0005635, integral component of membrane, membrane, membrane, endomembrane system, endoplasmic reticulum, nuclear envelope, GO:0020037, GO:0015232, GO:0005515, GO:0005496, GO:0003707, heme binding, heme transmembrane transporter activity, protein binding, steroid binding, steroid hormone receptor activity, GO:0060612, GO:0043401, GO:0015886, adipose tissue development, steroid hormone mediated signaling pathway, heme transport, 122 144 151 102 80 118 108 95 63 ENSG00000164045 chr3 48157146 48188402 - CDC25A protein_coding CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 993 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0051087, GO:0019901, GO:0005515, GO:0004725, GO:0004721, chaperone binding, protein kinase binding, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0110032, GO:0051726, GO:0051301, GO:0035335, GO:0034644, GO:0016579, GO:0010971, GO:0009314, GO:0008283, GO:0000086, GO:0000086, GO:0000082, GO:0000079, positive regulation of G2/MI transition of meiotic cell cycle, regulation of cell cycle, cell division, peptidyl-tyrosine dephosphorylation, cellular response to UV, protein deubiquitination, positive regulation of G2/M transition of mitotic cell cycle, response to radiation, cell population proliferation, G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 0 0 0 0 2 0 2 0 0 ENSG00000164047 chr3 48223347 48225491 + CAMP protein_coding This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2014]. 820 GO:1904724, GO:0070062, GO:0042581, GO:0035580, GO:0005615, GO:0005615, GO:0005576, tertiary granule lumen, extracellular exosome, specific granule, specific granule lumen, extracellular space, extracellular space, extracellular region, GO:0001530, lipopolysaccharide binding, GO:0061844, GO:0061844, GO:0051873, GO:0050830, GO:0050830, GO:0050829, GO:0045087, GO:0043312, GO:0042742, GO:0019731, GO:0019730, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, killing by host of symbiont cells, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, neutrophil degranulation, defense response to bacterium, antibacterial humoral response, antimicrobial humoral response, innate immune response in mucosa, 149 119 195 45 109 67 42 106 58 ENSG00000164048 chr3 48241100 48299253 + ZNF589 protein_coding 51385 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0001227, GO:0001227, GO:0001227, GO:0000981, GO:0000977, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 50 49 86 114 58 104 70 41 62 ENSG00000164049 chr3 48372219 48401259 + FBXW12 protein_coding Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 285231 GO:0005829, cytosol, GO:0043687, GO:0000209, post-translational protein modification, protein polyubiquitination, 1 0 0 0 0 2 0 1 0 ENSG00000164050 chr3 48403854 48430051 - PLXNB1 protein_coding 5364 GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005576, GO:0002116, GO:0002116, GO:0002116, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, semaphorin receptor complex, semaphorin receptor complex, semaphorin receptor complex, GO:0038023, GO:0032794, GO:0030215, GO:0017154, GO:0017154, GO:0017154, GO:0005515, GO:0005096, GO:0004888, signaling receptor activity, GTPase activating protein binding, semaphorin receptor binding, semaphorin receptor activity, semaphorin receptor activity, semaphorin receptor activity, protein binding, GTPase activator activity, transmembrane signaling receptor activity, GO:1904862, GO:1902287, GO:1900220, GO:0071526, GO:0051493, GO:0050772, GO:0048812, GO:0043931, GO:0043547, GO:0043087, GO:0035556, GO:0033689, GO:0030334, GO:0016477, GO:0014068, GO:0008360, GO:0008360, GO:0007186, GO:0007165, GO:0007162, GO:0007162, inhibitory synapse assembly, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis, semaphorin-plexin signaling pathway, regulation of cytoskeleton organization, positive regulation of axonogenesis, neuron projection morphogenesis, ossification involved in bone maturation, positive regulation of GTPase activity, regulation of GTPase activity, intracellular signal transduction, negative regulation of osteoblast proliferation, regulation of cell migration, cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, regulation of cell shape, regulation of cell shape, G protein-coupled receptor signaling pathway, signal transduction, negative regulation of cell adhesion, negative regulation of cell adhesion, 7 7 9 3 16 6 8 7 8 ENSG00000164051 chr3 48432164 48440456 - CCDC51 protein_coding 79714 GO:0062157, GO:0031305, mitochondrial ATP-gated potassium channel complex, integral component of mitochondrial inner membrane, GO:0062156, GO:0005515, mitochondrial ATP-gated potassium channel activity, protein binding, GO:0071805, potassium ion transmembrane transport, 10 14 14 27 34 38 26 17 24 ENSG00000164053 chr3 48446710 48467645 + ATRIP protein_coding This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]. 84126 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0070530, GO:0005515, K63-linked polyubiquitin modification-dependent protein binding, protein binding, GO:1901796, GO:0036297, GO:0006281, GO:0006260, GO:0000077, GO:0000077, regulation of signal transduction by p53 class mediator, interstrand cross-link repair, DNA repair, DNA replication, DNA damage checkpoint, DNA damage checkpoint, 54 29 52 65 70 91 68 44 66 ENSG00000164054 chr3 48467798 48504826 - SHISA5 protein_coding This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016]. 51246 GO:0031965, GO:0016021, GO:0005789, GO:0005788, GO:0005783, nuclear membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0005515, protein binding, GO:0044267, GO:0043687, GO:0043123, GO:0042771, cellular protein metabolic process, post-translational protein modification, positive regulation of I-kappaB kinase/NF-kappaB signaling, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, 3627 3605 4078 1256 2477 1863 1793 2491 1797 ENSG00000164056 chr4 123396795 123403760 + SPRY1 protein_coding 10252 GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005654, plasma membrane, cytosol, cytosol, cytosol, cytosol, Golgi apparatus, nucleoplasm, GO:0005515, protein binding, GO:1902747, GO:0070373, GO:0060940, GO:0060449, GO:0051387, GO:0048513, GO:0046580, GO:0043407, GO:0042059, GO:0040037, GO:0040037, GO:0034260, GO:0030512, GO:0010719, GO:0008285, GO:0001759, GO:0001657, GO:0001656, GO:0000132, negative regulation of lens fiber cell differentiation, negative regulation of ERK1 and ERK2 cascade, epithelial to mesenchymal transition involved in cardiac fibroblast development, bud elongation involved in lung branching, negative regulation of neurotrophin TRK receptor signaling pathway, animal organ development, negative regulation of Ras protein signal transduction, negative regulation of MAP kinase activity, negative regulation of epidermal growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, negative regulation of GTPase activity, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of epithelial to mesenchymal transition, negative regulation of cell population proliferation, organ induction, ureteric bud development, metanephros development, establishment of mitotic spindle orientation, 4 2 6 2 4 0 1 4 1 ENSG00000164061 chr3 49554489 49671545 + BSN protein_coding Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]. 8927 GO:0098982, GO:0098978, GO:0098685, GO:0060076, GO:0048788, GO:0048788, GO:0048788, GO:0048786, GO:0044306, GO:0030672, GO:0030425, GO:0030424, GO:0014069, GO:0009986, GO:0008021, GO:0005634, GABA-ergic synapse, glutamatergic synapse, Schaffer collateral - CA1 synapse, excitatory synapse, cytoskeleton of presynaptic active zone, cytoskeleton of presynaptic active zone, cytoskeleton of presynaptic active zone, presynaptic active zone, neuron projection terminus, synaptic vesicle membrane, dendrite, axon, postsynaptic density, cell surface, synaptic vesicle, nucleus, GO:0098882, GO:0046872, structural constituent of presynaptic active zone, metal ion binding, GO:1904071, GO:0099526, GO:0048790, GO:0035418, GO:0007268, presynaptic active zone assembly, presynapse to nucleus signaling pathway, maintenance of presynaptic active zone structure, protein localization to synapse, chemical synaptic transmission, 2 4 5 6 7 1 2 3 4 ENSG00000164062 chr3 49674002 49683963 + APEH protein_coding This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]. 327 GO:1904813, GO:0070062, GO:0031965, GO:0005829, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, nuclear membrane, cytosol, cytosol, extracellular region, GO:0042802, GO:0008242, GO:0005515, GO:0004252, GO:0004252, GO:0004252, GO:0003723, identical protein binding, omega peptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, RNA binding, GO:0050435, GO:0043312, GO:0006508, GO:0006415, amyloid-beta metabolic process, neutrophil degranulation, proteolysis, translational termination, 160 182 195 130 149 165 135 123 165 ENSG00000164066 chr4 127623271 127726737 + INTU protein_coding 27152 GO:0036064, GO:0031514, GO:0009986, GO:0005737, ciliary basal body, motile cilium, cell surface, cytoplasm, GO:0005515, protein binding, GO:1905515, GO:0060271, GO:0060173, GO:0060021, GO:0051782, GO:0045880, GO:0044458, GO:0043587, GO:0042733, GO:0031069, GO:0030278, GO:0030216, GO:0021915, GO:0021513, GO:0016192, GO:0010839, GO:0008589, GO:0007399, GO:0001736, non-motile cilium assembly, cilium assembly, limb development, roof of mouth development, negative regulation of cell division, positive regulation of smoothened signaling pathway, motile cilium assembly, tongue morphogenesis, embryonic digit morphogenesis, hair follicle morphogenesis, regulation of ossification, keratinocyte differentiation, neural tube development, spinal cord dorsal/ventral patterning, vesicle-mediated transport, negative regulation of keratinocyte proliferation, regulation of smoothened signaling pathway, nervous system development, establishment of planar polarity, 0 0 0 3 0 7 0 0 0 ENSG00000164068 chr3 49689499 49721529 + RNF123 protein_coding The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 63891 GO:0031965, GO:0005829, GO:0005829, GO:0005737, GO:0005737, nuclear membrane, cytosol, cytosol, cytoplasm, cytoplasm, GO:0046872, GO:0004842, metal ion binding, ubiquitin-protein transferase activity, GO:0051603, GO:0016579, GO:0016567, proteolysis involved in cellular protein catabolic process, protein deubiquitination, protein ubiquitination, 301 372 333 255 399 317 343 313 303 ENSG00000164070 chr4 127781821 127840733 + HSPA4L protein_coding The protein encoded by this gene is heat shock inducible and may act as a chaperone. The encoded protein can protect the heat-shocked cell against the harmful effects of aggregated proteins. This gene is highly expressed in leukemia cells and may be a good target for therapeutic intervention. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 22824 GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0005524, ATP binding, GO:0006986, GO:0006457, response to unfolded protein, protein folding, 2 0 1 0 0 2 1 2 1 ENSG00000164073 chr4 127917732 127966034 - MFSD8 protein_coding This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]. 256471 GO:0043231, GO:0016021, GO:0005765, GO:0005654, intracellular membrane-bounded organelle, integral component of membrane, lysosomal membrane, nucleoplasm, GO:0022857, transmembrane transporter activity, GO:1905165, GO:0097352, GO:0055085, GO:0048666, GO:0038202, GO:0010506, GO:0007040, regulation of lysosomal protein catabolic process, autophagosome maturation, transmembrane transport, neuron development, TORC1 signaling, regulation of autophagy, lysosome organization, 110 113 129 94 142 149 112 83 111 ENSG00000164074 chr4 127965306 128039927 + ABHD18 protein_coding 80167 GO:0005576, extracellular region, 182 152 155 251 295 259 225 162 207 ENSG00000164076 chr3 49857988 49870222 - CAMKV protein_coding 79012 GO:0098978, GO:0030659, GO:0005886, GO:0005622, glutamatergic synapse, cytoplasmic vesicle membrane, plasma membrane, intracellular anatomical structure, GO:0005524, GO:0005516, GO:0004683, ATP binding, calmodulin binding, calmodulin-dependent protein kinase activity, GO:0099159, GO:0018105, regulation of modification of postsynaptic structure, peptidyl-serine phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000164077 chr3 49907160 49930173 - MON1A protein_coding 84315 GO:0035658, GO:0005829, Mon1-Ccz1 complex, cytosol, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0016192, GO:0009306, GO:0006623, vesicle-mediated transport, protein secretion, protein targeting to vacuole, 11 5 4 21 20 14 28 11 11 ENSG00000164078 chr3 49887002 49903873 - MST1R protein_coding This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternative splicing generates multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]. 4486 GO:0043235, GO:0009986, GO:0009925, GO:0005887, GO:0005886, GO:0005773, GO:0001725, receptor complex, cell surface, basal plasma membrane, integral component of plasma membrane, plasma membrane, vacuole, stress fiber, GO:0019899, GO:0005524, GO:0005515, GO:0005011, GO:0004714, enzyme binding, ATP binding, protein binding, macrophage colony-stimulating factor receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:0051897, GO:0051897, GO:0048012, GO:0045087, GO:0043406, GO:0038145, GO:0033674, GO:0018108, GO:0016477, GO:0009615, GO:0008284, GO:0007399, GO:0007338, GO:0007275, GO:0007169, GO:0007165, GO:0006952, GO:0006909, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, hepatocyte growth factor receptor signaling pathway, innate immune response, positive regulation of MAP kinase activity, macrophage colony-stimulating factor signaling pathway, positive regulation of kinase activity, peptidyl-tyrosine phosphorylation, cell migration, response to virus, positive regulation of cell population proliferation, nervous system development, single fertilization, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, defense response, phagocytosis, 0 1 0 0 3 0 1 1 0 ENSG00000164080 chr3 51541144 51668667 + RAD54L2 protein_coding 23132 GO:0005634, nucleus, GO:0005524, GO:0005515, GO:0003678, GO:0003677, ATP binding, protein binding, DNA helicase activity, DNA binding, GO:0032508, DNA duplex unwinding, 95 129 157 124 97 189 142 76 146 ENSG00000164081 chr3 51662693 51704323 + TEX264 protein_coding 51368 GO:0031093, GO:0016021, GO:0005829, GO:0005789, GO:0005657, GO:0005634, GO:0005576, GO:0000421, platelet alpha granule lumen, integral component of membrane, cytosol, endoplasmic reticulum membrane, replication fork, nucleus, extracellular region, autophagosome membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0106300, GO:0061709, GO:0061709, GO:0002576, protein-DNA covalent cross-linking repair, reticulophagy, reticulophagy, platelet degranulation, 32 35 64 54 56 95 72 45 71 ENSG00000164082 chr3 51707070 51718613 + GRM2 protein_coding L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]. 2912 GO:0097449, GO:0042734, GO:0030425, GO:0030424, GO:0005887, GO:0005886, astrocyte projection, presynaptic membrane, dendrite, axon, integral component of plasma membrane, plasma membrane, GO:0097110, GO:0008066, GO:0008066, GO:0005515, GO:0005246, GO:0004930, GO:0001641, scaffold protein binding, glutamate receptor activity, glutamate receptor activity, protein binding, calcium channel regulator activity, G protein-coupled receptor activity, group II metabotropic glutamate receptor activity, GO:0090461, GO:0051966, GO:0051896, GO:0014047, GO:0007268, GO:0007216, GO:0007196, GO:0007194, GO:0007186, glutamate homeostasis, regulation of synaptic transmission, glutamatergic, regulation of protein kinase B signaling, glutamate secretion, chemical synaptic transmission, G protein-coupled glutamate receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, 9 5 6 7 4 25 7 3 4 ENSG00000164086 chr3 52048919 52056550 - DUSP7 protein_coding Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]. 1849 GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0106307, GO:0106306, GO:0051019, GO:0017017, GO:0017017, GO:0008330, GO:0005515, GO:0004725, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, MAP kinase tyrosine/serine/threonine phosphatase activity, MAP kinase tyrosine/serine/threonine phosphatase activity, protein tyrosine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0043407, GO:0035970, GO:0035335, GO:0035335, GO:0006470, GO:0000188, GO:0000187, GO:0000165, negative regulation of MAP kinase activity, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, inactivation of MAPK activity, activation of MAPK activity, MAPK cascade, 35 33 47 58 73 83 41 50 50 ENSG00000164087 chr3 52075253 52154690 - POC1A protein_coding POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]. 25886 GO:0036064, GO:0005814, GO:0005813, GO:0005737, GO:0000922, ciliary basal body, centriole, centrosome, cytoplasm, spindle pole, GO:0005515, protein binding, GO:1905515, GO:0010825, GO:0007283, GO:0007052, GO:0003431, non-motile cilium assembly, positive regulation of centrosome duplication, spermatogenesis, mitotic spindle organization, growth plate cartilage chondrocyte development, 14 12 16 6 11 10 7 13 8 ENSG00000164088 chr3 52245793 52250597 + PPM1M protein_coding 132160 GO:0005634, nucleus, GO:0106307, GO:0106306, GO:0030145, GO:0004724, protein threonine phosphatase activity, protein serine phosphatase activity, manganese ion binding, magnesium-dependent protein serine/threonine phosphatase activity, GO:0006470, GO:0006470, protein dephosphorylation, protein dephosphorylation, 838 858 1138 332 663 476 394 582 490 ENSG00000164089 chr4 108742040 108763054 - ETNPPL protein_coding 64850 GO:0005759, GO:0005575, mitochondrial matrix, cellular_component, GO:0050459, GO:0030170, GO:0008483, ethanolamine-phosphate phospho-lyase activity, pyridoxal phosphate binding, transaminase activity, GO:0006646, phosphatidylethanolamine biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000164091 chr3 52254421 52288020 - WDR82 protein_coding TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]. 80335 GO:0072357, GO:0048188, GO:0048188, GO:0035097, GO:0005730, GO:0000785, GO:0000781, PTW/PP1 phosphatase complex, Set1C/COMPASS complex, Set1C/COMPASS complex, histone methyltransferase complex, nucleolus, chromatin, chromosome, telomeric region, GO:0042800, GO:0042800, GO:0005515, GO:0003682, histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), protein binding, chromatin binding, GO:0080182, GO:0051568, histone H3-K4 trimethylation, histone H3-K4 methylation, 2331 2000 2631 765 1224 977 882 952 844 ENSG00000164093 chr4 110617423 110642123 - PITX2 protein_coding This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 5308 GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0008134, GO:0005515, GO:0003700, GO:0001102, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0070986, GO:0061325, GO:0061072, GO:0060127, GO:0060126, GO:0048536, GO:0045944, GO:0045944, GO:0043010, GO:0042476, GO:0035993, GO:0035315, GO:0009653, GO:0007368, GO:0006357, GO:0006357, GO:0003253, left/right axis specification, cell proliferation involved in outflow tract morphogenesis, iris morphogenesis, prolactin secreting cell differentiation, somatotropin secreting cell differentiation, spleen development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, camera-type eye development, odontogenesis, deltoid tuberosity development, hair cell differentiation, anatomical structure morphogenesis, determination of left/right symmetry, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, cardiac neural crest cell migration involved in outflow tract morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000164096 chr4 119296419 119304445 - C4orf3 protein_coding 401152 GO:0016021, integral component of membrane, 1474 1081 1814 558 820 926 662 829 906 ENSG00000164099 chr4 118280038 118353003 - PRSS12 protein_coding This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]. 8492 GO:0043195, GO:0043083, GO:0031410, GO:0030425, GO:0030424, GO:0005886, GO:0005886, terminal bouton, synaptic cleft, cytoplasmic vesicle, dendrite, axon, plasma membrane, plasma membrane, GO:0008236, GO:0005044, GO:0004252, serine-type peptidase activity, scavenger receptor activity, serine-type endopeptidase activity, GO:0031638, GO:0006897, GO:0006887, zymogen activation, endocytosis, exocytosis, 0 0 0 4 10 17 9 0 8 ENSG00000164100 chr4 118033618 118258648 + NDST3 protein_coding This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008]. 9348 GO:0016021, GO:0005794, GO:0005575, GO:0000139, integral component of membrane, Golgi apparatus, cellular_component, Golgi membrane, GO:0102140, GO:0019213, GO:0015016, GO:0015016, heparan sulfate N-deacetylase activity, deacetylase activity, [heparan sulfate]-glucosamine N-sulfotransferase activity, [heparan sulfate]-glucosamine N-sulfotransferase activity, GO:0030210, GO:0015014, GO:0015014, GO:0015012, heparin biosynthetic process, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, heparan sulfate proteoglycan biosynthetic process, 1 0 0 0 2 0 0 0 3 ENSG00000164104 chr4 173331695 173335125 - HMGB2 protein_coding This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]. 3148 GO:0048471, GO:0032991, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005615, GO:0000793, GO:0000785, GO:0000785, perinuclear region of cytoplasm, protein-containing complex, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, extracellular space, condensed chromosome, chromatin, chromatin, GO:0097100, GO:0050786, GO:0044378, GO:0042056, GO:0019904, GO:0008301, GO:0008301, GO:0008134, GO:0005515, GO:0003723, GO:0003713, GO:0003697, GO:0003690, GO:0003684, GO:0003677, GO:0000987, GO:0000976, GO:0000400, supercoiled DNA binding, RAGE receptor binding, non-sequence-specific DNA binding, bending, chemoattractant activity, protein domain specific binding, DNA binding, bending, DNA binding, bending, transcription factor binding, protein binding, RNA binding, transcription coactivator activity, single-stranded DNA binding, double-stranded DNA binding, damaged DNA binding, DNA binding, cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, four-way junction DNA binding, GO:1902042, GO:0072091, GO:0071222, GO:0060326, GO:0051103, GO:0050918, GO:0050830, GO:0050829, GO:0050767, GO:0048545, GO:0045944, GO:0045893, GO:0045892, GO:0045654, GO:0045648, GO:0045087, GO:0043388, GO:0033151, GO:0032728, GO:0032496, GO:0032392, GO:0032075, GO:0008584, GO:0007289, GO:0006357, GO:0006357, GO:0006334, GO:0006325, GO:0006309, GO:0006265, GO:0002437, GO:0001938, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of stem cell proliferation, cellular response to lipopolysaccharide, cell chemotaxis, DNA ligation involved in DNA repair, positive chemotaxis, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, regulation of neurogenesis, response to steroid hormone, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of megakaryocyte differentiation, positive regulation of erythrocyte differentiation, innate immune response, positive regulation of DNA binding, V(D)J recombination, positive regulation of interferon-beta production, response to lipopolysaccharide, DNA geometric change, positive regulation of nuclease activity, male gonad development, spermatid nucleus differentiation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, nucleosome assembly, chromatin organization, apoptotic DNA fragmentation, DNA topological change, inflammatory response to antigenic stimulus, positive regulation of endothelial cell proliferation, 1384 1202 2008 522 991 1073 640 947 991 ENSG00000164105 chr4 173369969 173377532 + SAP30 protein_coding Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]. 8819 GO:0005654, GO:0005654, GO:0000118, GO:0000118, nucleoplasm, nucleoplasm, histone deacetylase complex, histone deacetylase complex, GO:0046872, GO:0005515, GO:0003714, GO:0003712, GO:0003677, metal ion binding, protein binding, transcription corepressor activity, transcription coregulator activity, DNA binding, GO:0035914, GO:0006355, GO:0006355, GO:0000122, skeletal muscle cell differentiation, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 7 4 10 20 10 39 8 14 21 ENSG00000164106 chr4 173384701 173406380 - SCRG1 protein_coding Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. In addition, the encoded protein can interact with bone marrow stromal cell antigen 1 (BST1) to enhance the differentiation potentials of human mesenchymal stem cells during tissue and bone regeneration. [provided by RefSeq, Jul 2016]. 11341 GO:0044306, GO:0005794, GO:0005615, neuron projection terminus, Golgi apparatus, extracellular space, GO:0005515, protein binding, GO:0007399, nervous system development, 1 0 1 0 1 0 2 1 0 ENSG00000164107 chr4 173524969 173530229 - HAND2 protein_coding The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]. 9464 GO:0032991, GO:0005667, GO:0000785, GO:0000785, protein-containing complex, transcription regulator complex, chromatin, chromatin, GO:1990837, GO:0070888, GO:0070888, GO:0042803, GO:0033613, GO:0008134, GO:0005515, GO:0003680, GO:0001228, GO:0000981, GO:0000981, GO:0000977, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, E-box binding, E-box binding, protein homodimerization activity, activating transcription factor binding, transcription factor binding, protein binding, minor groove of adenine-thymine-rich DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000764, GO:2000763, GO:2000679, GO:1903929, GO:1900745, GO:0070374, GO:0061325, GO:0061309, GO:0061032, GO:0060982, GO:0060536, GO:0048935, GO:0048538, GO:0048485, GO:0045944, GO:0045893, GO:0045668, GO:0043586, GO:0043433, GO:0043392, GO:0042733, GO:0042475, GO:0034103, GO:0032502, GO:0010667, GO:0010629, GO:0010628, GO:0010613, GO:0010613, GO:0010463, GO:0007512, GO:0007507, GO:0007507, GO:0006357, GO:0003357, GO:0003278, GO:0003266, GO:0003253, GO:0003219, GO:0001967, GO:0001947, GO:0001701, GO:0001525, positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis, positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process, positive regulation of transcription regulatory region DNA binding, primary palate development, positive regulation of p38MAPK cascade, positive regulation of ERK1 and ERK2 cascade, cell proliferation involved in outflow tract morphogenesis, cardiac neural crest cell development involved in outflow tract morphogenesis, visceral serous pericardium development, coronary artery morphogenesis, cartilage morphogenesis, peripheral nervous system neuron development, thymus development, sympathetic nervous system development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, tongue development, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA binding, embryonic digit morphogenesis, odontogenesis of dentin-containing tooth, regulation of tissue remodeling, developmental process, negative regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, positive regulation of gene expression, positive regulation of cardiac muscle hypertrophy, positive regulation of cardiac muscle hypertrophy, mesenchymal cell proliferation, adult heart development, heart development, heart development, regulation of transcription by RNA polymerase II, noradrenergic neuron differentiation, apoptotic process involved in heart morphogenesis, regulation of secondary heart field cardioblast proliferation, cardiac neural crest cell migration involved in outflow tract morphogenesis, cardiac right ventricle formation, suckling behavior, heart looping, in utero embryonic development, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000164109 chr4 120055608 120067074 - MAD2L1 protein_coding MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]. 4085 GO:0072686, GO:0048471, GO:0044615, GO:0005829, GO:0005829, GO:0005737, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0000922, GO:0000777, GO:0000776, GO:0000776, GO:0000776, mitotic spindle, perinuclear region of cytoplasm, nuclear pore nuclear basket, cytosol, cytosol, cytoplasm, chromosome, nucleoplasm, nucleoplasm, nucleus, spindle pole, condensed chromosome kinetochore, kinetochore, kinetochore, kinetochore, GO:0042803, GO:0042802, GO:0008022, GO:0005515, protein homodimerization activity, identical protein binding, protein C-terminus binding, protein binding, GO:1904667, GO:1901990, GO:0090267, GO:0051660, GO:0051301, GO:0045930, GO:0043066, GO:0042177, GO:0031145, GO:0007094, GO:0007094, GO:0007094, GO:0007093, GO:0006511, GO:0000132, negative regulation of ubiquitin protein ligase activity, regulation of mitotic cell cycle phase transition, positive regulation of mitotic cell cycle spindle assembly checkpoint, establishment of centrosome localization, cell division, negative regulation of mitotic cell cycle, negative regulation of apoptotic process, negative regulation of protein catabolic process, anaphase-promoting complex-dependent catabolic process, mitotic spindle assembly checkpoint, mitotic spindle assembly checkpoint, mitotic spindle assembly checkpoint, mitotic cell cycle checkpoint, ubiquitin-dependent protein catabolic process, establishment of mitotic spindle orientation, 4 3 5 27 7 28 10 14 5 ENSG00000164111 chr4 121667955 121697113 - ANXA5 protein_coding The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. Polymorphisms in this gene have been implicated in various obstetric complications. [provided by RefSeq, Dec 2019]. 308 GO:0072563, GO:0070062, GO:0062023, GO:0062023, GO:0016020, GO:0009897, GO:0005925, GO:0005829, GO:0005737, GO:0005737, GO:0005576, endothelial microparticle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, membrane, external side of plasma membrane, focal adhesion, cytosol, cytoplasm, cytoplasm, extracellular region, GO:0005544, GO:0005543, GO:0005515, GO:0005509, GO:0004859, calcium-dependent phospholipid binding, phospholipid binding, protein binding, calcium ion binding, phospholipase inhibitor activity, GO:0050819, GO:0043086, GO:0043066, GO:0010033, GO:0007596, GO:0007165, GO:0002576, negative regulation of coagulation, negative regulation of catalytic activity, negative regulation of apoptotic process, response to organic substance, blood coagulation, signal transduction, platelet degranulation, 439 850 883 314 568 581 328 565 479 ENSG00000164112 chr4 121758930 121765427 - TMEM155 protein_coding 132332 0 0 0 0 0 0 1 0 0 ENSG00000164113 chr4 122378966 122429802 + ADAD1 protein_coding 132612 GO:0005737, GO:0005730, cytoplasm, nucleolus, GO:0008251, GO:0003726, GO:0003725, tRNA-specific adenosine deaminase activity, double-stranded RNA adenosine deaminase activity, double-stranded RNA binding, GO:0007286, GO:0007275, GO:0006396, GO:0006382, spermatid development, multicellular organism development, RNA processing, adenosine to inosine editing, 0 0 0 0 0 0 0 0 0 ENSG00000164114 chr4 155342658 155376970 - MAP9 protein_coding ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]. 79884 GO:1990023, GO:0072686, GO:0051233, GO:0030424, GO:0005737, GO:0000235, GO:0000235, mitotic spindle midzone, mitotic spindle, spindle midzone, axon, cytoplasm, astral microtubule, astral microtubule, GO:0008017, GO:0008017, microtubule binding, microtubule binding, GO:1902412, GO:1902412, GO:0090307, GO:0090307, GO:0060236, GO:0046602, GO:0000281, regulation of mitotic cytokinesis, regulation of mitotic cytokinesis, mitotic spindle assembly, mitotic spindle assembly, regulation of mitotic spindle organization, regulation of mitotic centrosome separation, mitotic cytokinesis, 14 4 16 39 8 28 16 3 57 ENSG00000164116 chr4 155666711 155732349 + GUCY1A1 protein_coding Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 2982 GO:0008074, guanylate cyclase complex, soluble, GO:0038023, GO:0020037, GO:0005525, GO:0005515, GO:0004383, signaling receptor activity, heme binding, GTP binding, protein binding, guanylate cyclase activity, GO:0060087, GO:0010750, GO:0008217, GO:0008015, GO:0007263, GO:0006182, relaxation of vascular associated smooth muscle, positive regulation of nitric oxide mediated signal transduction, regulation of blood pressure, blood circulation, nitric oxide mediated signal transduction, cGMP biosynthetic process, 2 0 0 0 1 0 3 0 4 ENSG00000164117 chr4 174236658 174284264 - FBXO8 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]. 26269 GO:0000151, ubiquitin ligase complex, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0032012, GO:0006511, regulation of ARF protein signal transduction, ubiquitin-dependent protein catabolic process, 139 109 103 58 87 94 73 50 48 ENSG00000164118 chr4 174283677 174333380 + CEP44 protein_coding 80817 GO:0030496, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0000922, GO:0000922, midbody, centriole, centrosome, centrosome, cytoplasm, spindle pole, spindle pole, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0010457, GO:0007099, GO:0007098, centriole-centriole cohesion, centriole replication, centrosome cycle, 131 115 165 94 144 139 140 106 86 ENSG00000164120 chr4 174490177 174523154 - HPGD protein_coding This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 3248 GO:0070062, GO:0016323, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, extracellular exosome, basolateral plasma membrane, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0070403, GO:0051287, GO:0042802, GO:0016616, GO:0016404, GO:0016404, GO:0016404, GO:0016404, GO:0004957, NAD+ binding, NAD binding, identical protein binding, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, 15-hydroxyprostaglandin dehydrogenase (NAD+) activity, 15-hydroxyprostaglandin dehydrogenase (NAD+) activity, 15-hydroxyprostaglandin dehydrogenase (NAD+) activity, 15-hydroxyprostaglandin dehydrogenase (NAD+) activity, prostaglandin E receptor activity, GO:2001301, GO:1905828, GO:1904707, GO:0097070, GO:0070493, GO:0055114, GO:0045786, GO:0045471, GO:0043065, GO:0042759, GO:0032496, GO:0032355, GO:0030728, GO:0019372, GO:0007567, GO:0007565, GO:0007565, GO:0007179, GO:0006693, GO:0006693, GO:0001822, lipoxin biosynthetic process, regulation of prostaglandin catabolic process, positive regulation of vascular associated smooth muscle cell proliferation, ductus arteriosus closure, thrombin-activated receptor signaling pathway, oxidation-reduction process, negative regulation of cell cycle, response to ethanol, positive regulation of apoptotic process, long-chain fatty acid biosynthetic process, response to lipopolysaccharide, response to estradiol, ovulation, lipoxygenase pathway, parturition, female pregnancy, female pregnancy, transforming growth factor beta receptor signaling pathway, prostaglandin metabolic process, prostaglandin metabolic process, kidney development, 20 24 37 29 12 35 25 14 12 ENSG00000164122 chr4 176213673 176277571 - ASB5 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]. 140458 GO:0005829, cytosol, GO:0045732, GO:0043687, GO:0035556, GO:0016567, GO:0016567, positive regulation of protein catabolic process, post-translational protein modification, intracellular signal transduction, protein ubiquitination, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000164123 chr4 158893134 159038760 - C4orf45 protein_coding 152940 GO:0005515, protein binding, 0 0 3 0 0 0 0 0 0 ENSG00000164124 chr4 158201604 158255411 + TMEM144 protein_coding 55314 GO:0016021, integral component of membrane, GO:0015144, GO:0005515, carbohydrate transmembrane transporter activity, protein binding, GO:0034219, carbohydrate transmembrane transport, 3 0 0 1 4 18 3 1 11 ENSG00000164125 chr4 158124474 158173318 - FAM198B protein_coding 51313 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, 11 13 4 15 11 19 14 18 19 ENSG00000164128 chr4 163323961 163344832 - NPY1R protein_coding This gene belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]. 4886 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0004983, GO:0001602, GO:0001601, protein binding, neuropeptide Y receptor activity, pancreatic polypeptide receptor activity, peptide YY receptor activity, GO:0040014, GO:0019233, GO:0008217, GO:0007631, GO:0007626, GO:0007218, GO:0007193, GO:0007187, GO:0007186, GO:0006006, GO:0003151, regulation of multicellular organism growth, sensory perception of pain, regulation of blood pressure, feeding behavior, locomotory behavior, neuropeptide signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, glucose metabolic process, outflow tract morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000164129 chr4 163343939 163351934 + NPY5R protein_coding The protein encoded by this gene is a receptor for neuropeptide Y and peptide YY. The encoded protein appears to be involved in regulating food intake, with defects in this gene being associated with eating disorders. Also, the encoded protein is involved in a pathway that protects neuroblastoma cells from chemotherapy-induced cell death, providing a possible therapeutic target against neuroblastoma. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]. 4889 GO:0045202, GO:0043005, GO:0016020, GO:0005887, GO:0005886, GO:0005737, synapse, neuron projection, membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0004983, GO:0001602, GO:0001601, neuropeptide Y receptor activity, pancreatic polypeptide receptor activity, peptide YY receptor activity, GO:0070374, GO:0060112, GO:0048661, GO:0043066, GO:0042755, GO:0032229, GO:0014050, GO:0007568, GO:0007268, GO:0007218, GO:0007186, GO:0003214, GO:0003151, GO:0002865, GO:0002675, positive regulation of ERK1 and ERK2 cascade, generation of ovulation cycle rhythm, positive regulation of smooth muscle cell proliferation, negative regulation of apoptotic process, eating behavior, negative regulation of synaptic transmission, GABAergic, negative regulation of glutamate secretion, aging, chemical synaptic transmission, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, cardiac left ventricle morphogenesis, outflow tract morphogenesis, negative regulation of acute inflammatory response to antigenic stimulus, positive regulation of acute inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000164134 chr4 139301455 139420033 + NAA15 protein_coding N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]. 80155 GO:0031415, GO:0031415, GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005667, GO:0005634, NatA complex, NatA complex, membrane, cytosol, cytoplasm, cytoplasm, transcription regulator complex, nucleus, GO:0043022, GO:0043022, GO:0016407, GO:0005515, GO:0004596, GO:0003723, ribosome binding, ribosome binding, acetyltransferase activity, protein binding, peptide alpha-N-acetyltransferase activity, RNA binding, GO:0050821, GO:0045893, GO:0043066, GO:0030154, GO:0017196, GO:0006474, GO:0001525, protein stabilization, positive regulation of transcription, DNA-templated, negative regulation of apoptotic process, cell differentiation, N-terminal peptidyl-methionine acetylation, N-terminal protein amino acid acetylation, angiogenesis, 49 44 100 116 74 146 105 48 138 ENSG00000164136 chr4 141636599 141733987 + IL15 protein_coding The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq, Feb 2011]. 3600 GO:0016607, GO:0009986, GO:0005829, GO:0005794, GO:0005768, GO:0005737, GO:0005654, GO:0005615, GO:0005576, GO:0005576, nuclear speck, cell surface, cytosol, Golgi apparatus, endosome, cytoplasm, nucleoplasm, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005126, GO:0005125, protein binding, cytokine receptor binding, cytokine activity, GO:1904100, GO:0120163, GO:0071305, GO:0050778, GO:0050766, GO:0050731, GO:0050729, GO:0050691, GO:0048662, GO:0048535, GO:0048469, GO:0045580, GO:0045062, GO:0042531, GO:0042119, GO:0042119, GO:0042102, GO:0035723, GO:0035723, GO:0034105, GO:0032825, GO:0032819, GO:0032740, GO:0030225, GO:0030212, GO:0014732, GO:0008284, GO:0007568, GO:0007267, GO:0007260, GO:0007165, GO:0006955, GO:0006954, GO:0001866, GO:0001819, positive regulation of protein O-linked glycosylation, negative regulation of cold-induced thermogenesis, cellular response to vitamin D, positive regulation of immune response, positive regulation of phagocytosis, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of inflammatory response, regulation of defense response to virus by host, negative regulation of smooth muscle cell proliferation, lymph node development, cell maturation, regulation of T cell differentiation, extrathymic T cell selection, positive regulation of tyrosine phosphorylation of STAT protein, neutrophil activation, neutrophil activation, positive regulation of T cell proliferation, interleukin-15-mediated signaling pathway, interleukin-15-mediated signaling pathway, positive regulation of tissue remodeling, positive regulation of natural killer cell differentiation, positive regulation of natural killer cell proliferation, positive regulation of interleukin-17 production, macrophage differentiation, hyaluronan metabolic process, skeletal muscle atrophy, positive regulation of cell population proliferation, aging, cell-cell signaling, tyrosine phosphorylation of STAT protein, signal transduction, immune response, inflammatory response, NK T cell proliferation, positive regulation of cytokine production, 14 9 13 19 16 34 31 9 21 ENSG00000164142 chr4 151409216 151663632 + FAM160A1 protein_coding 729830 1 0 8 6 0 0 3 1 0 ENSG00000164144 chr4 152779937 152918463 + ARFIP1 protein_coding 27236 GO:0032588, GO:0032588, GO:0005829, GO:0000139, trans-Golgi network membrane, trans-Golgi network membrane, cytosol, Golgi membrane, GO:0070273, GO:0019904, GO:0005543, GO:0005515, phosphatidylinositol-4-phosphate binding, protein domain specific binding, phospholipid binding, protein binding, GO:1905280, GO:0050708, GO:0034315, GO:0006886, GO:0006886, negative regulation of retrograde transport, endosome to Golgi, regulation of protein secretion, regulation of Arp2/3 complex-mediated actin nucleation, intracellular protein transport, intracellular protein transport, 896 1184 1737 326 728 547 435 616 485 ENSG00000164151 chr5 5420664 5490234 + ICE1 protein_coding 23379 GO:0035363, GO:0035327, GO:0016604, GO:0015030, GO:0008023, GO:0005654, GO:0005654, histone locus body, transcriptionally active chromatin, nuclear body, Cajal body, transcription elongation factor complex, nucleoplasm, nucleoplasm, GO:0030674, GO:0005515, protein-macromolecule adaptor activity, protein binding, GO:0090316, GO:0045945, GO:0042796, GO:0042795, GO:0042795, GO:0031334, positive regulation of intracellular protein transport, positive regulation of transcription by RNA polymerase III, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, positive regulation of protein-containing complex assembly, 286 277 306 263 243 333 274 229 236 ENSG00000164161 chr4 144646021 144745271 + HHIP protein_coding This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]. 64399 GO:0060170, GO:0009986, GO:0005887, GO:0005737, GO:0005634, GO:0005576, ciliary membrane, cell surface, integral component of plasma membrane, cytoplasm, nucleus, extracellular region, GO:0097108, GO:0008270, GO:0005515, GO:0003824, hedgehog family protein binding, zinc ion binding, protein binding, catalytic activity, GO:0060441, GO:0048705, GO:0045879, GO:0043066, GO:0040036, GO:0009968, GO:0009953, GO:0007405, GO:0007165, epithelial tube branching involved in lung morphogenesis, skeletal system morphogenesis, negative regulation of smoothened signaling pathway, negative regulation of apoptotic process, regulation of fibroblast growth factor receptor signaling pathway, negative regulation of signal transduction, dorsal/ventral pattern formation, neuroblast proliferation, signal transduction, 0 2 0 0 0 0 0 0 0 ENSG00000164162 chr4 144831908 145098541 - ANAPC10 protein_coding ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]. 10393 GO:0005829, GO:0005680, GO:0005680, GO:0005654, cytosol, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, GO:1901990, GO:0070979, GO:0070979, GO:0051301, GO:0031145, GO:0007049, GO:0006511, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, protein K11-linked ubiquitination, cell division, anaphase-promoting complex-dependent catabolic process, cell cycle, ubiquitin-dependent protein catabolic process, 4 7 14 14 11 13 10 15 2 ENSG00000164163 chr4 145097932 145129179 + ABCE1 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6059 GO:0016020, GO:0005852, GO:0005829, GO:0005829, GO:0005759, GO:0005739, GO:0005737, membrane, eukaryotic translation initiation factor 3 complex, cytosol, cytosol, mitochondrial matrix, mitochondrion, cytoplasm, GO:0060698, GO:0043024, GO:0016887, GO:0005524, GO:0005515, GO:0005506, endoribonuclease inhibitor activity, ribosomal small subunit binding, ATPase activity, ATP binding, protein binding, iron ion binding, GO:0060702, GO:0060338, GO:0051607, GO:0016032, GO:0006415, GO:0006413, GO:0000054, negative regulation of endoribonuclease activity, regulation of type I interferon-mediated signaling pathway, defense response to virus, viral process, translational termination, translational initiation, ribosomal subunit export from nucleus, 65 34 132 190 67 167 116 42 107 ENSG00000164164 chr4 145110838 145180161 - OTUD4 protein_coding Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]. 54726 GO:0005829, GO:0005634, cytosol, nucleus, GO:0061578, GO:0061578, GO:0060090, GO:0008234, GO:0005515, GO:0004843, GO:0004843, GO:0003723, Lys63-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, molecular adaptor activity, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, RNA binding, GO:2000660, GO:2000660, GO:1903093, GO:1903093, GO:1901537, GO:0071108, GO:0070536, GO:0045087, GO:0034122, GO:0034122, GO:0016579, negative regulation of interleukin-1-mediated signaling pathway, negative regulation of interleukin-1-mediated signaling pathway, regulation of protein K48-linked deubiquitination, regulation of protein K48-linked deubiquitination, positive regulation of DNA demethylation, protein K48-linked deubiquitination, protein K63-linked deubiquitination, innate immune response, negative regulation of toll-like receptor signaling pathway, negative regulation of toll-like receptor signaling pathway, protein deubiquitination, 245 269 397 245 207 292 294 158 295 ENSG00000164167 chr4 146175685 146200000 + LSM6 protein_coding Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]. 11157 GO:0120115, GO:0071005, GO:0046540, GO:0046540, GO:0030532, GO:0005829, GO:0005737, GO:0005732, GO:0005730, GO:0005688, GO:0005654, GO:0005634, GO:0000932, Lsm2-8 complex, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, small nuclear ribonucleoprotein complex, cytosol, cytoplasm, small nucleolar ribonucleoprotein complex, nucleolus, U6 snRNP, nucleoplasm, nucleus, P-body, GO:0046982, GO:0005515, GO:0003723, GO:0003723, protein heterodimerization activity, protein binding, RNA binding, RNA binding, GO:0043928, GO:0030490, GO:0008380, GO:0008033, GO:0006402, GO:0000398, GO:0000398, GO:0000398, exonucleolytic catabolism of deadenylated mRNA, maturation of SSU-rRNA, RNA splicing, tRNA processing, mRNA catabolic process, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 44 33 24 44 70 60 27 39 34 ENSG00000164168 chr4 147617383 147672044 + TMEM184C protein_coding 55751 GO:0016021, integral component of membrane, GO:0005215, transporter activity, GO:0006810, transport, 196 126 189 196 103 179 173 107 114 ENSG00000164169 chr4 147637785 147684230 - PRMT9 protein_coding This gene encodes a type II methyltransferase. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to the guanidino nitrogen atoms of arginine. The protein encoded by this gene methylates spliceosome associated protein 145 to regulate alternative splicing and acts as a modulator of small nuclear ribonucleoprotein maturation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2017]. 90826 GO:0005737, cytoplasm, GO:0035243, GO:0035241, GO:0016274, GO:0016274, GO:0005515, protein-arginine omega-N symmetric methyltransferase activity, protein-arginine omega-N monomethyltransferase activity, protein-arginine N-methyltransferase activity, protein-arginine N-methyltransferase activity, protein binding, GO:0019918, GO:0006397, peptidyl-arginine methylation, to symmetrical-dimethyl arginine, mRNA processing, 113 114 207 289 115 172 358 80 119 ENSG00000164171 chr5 52989326 53094779 + ITGA2 protein_coding This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 3673 GO:0045178, GO:0034666, GO:0009986, GO:0009986, GO:0009897, GO:0008305, GO:0005925, GO:0005925, GO:0005886, GO:0005886, basal part of cell, integrin alpha2-beta1 complex, cell surface, cell surface, external side of plasma membrane, integrin complex, focal adhesion, focal adhesion, plasma membrane, plasma membrane, GO:0098639, GO:0046872, GO:0044877, GO:0043395, GO:0038064, GO:0005518, GO:0005515, GO:0001618, GO:0001540, collagen binding involved in cell-matrix adhesion, metal ion binding, protein-containing complex binding, heparan sulfate proteoglycan binding, collagen receptor activity, collagen binding, protein binding, virus receptor activity, amyloid-beta binding, GO:0048333, GO:0046718, GO:0038065, GO:0033627, GO:0031589, GO:0030198, GO:0009887, GO:0007596, GO:0007229, GO:0007160, GO:0007155, GO:0006929, mesodermal cell differentiation, viral entry into host cell, collagen-activated signaling pathway, cell adhesion mediated by integrin, cell-substrate adhesion, extracellular matrix organization, animal organ morphogenesis, blood coagulation, integrin-mediated signaling pathway, cell-matrix adhesion, cell adhesion, substrate-dependent cell migration, 1 0 0 3 3 0 0 0 3 ENSG00000164172 chr5 53095679 53110063 - MOCS2 protein_coding Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]. 4338 GO:0019008, GO:0016607, GO:0005829, GO:0005829, GO:0005829, GO:0005654, molybdopterin synthase complex, nuclear speck, cytosol, cytosol, cytosol, nucleoplasm, GO:0030366, GO:0030366, molybdopterin synthase activity, molybdopterin synthase activity, GO:0032324, GO:0006777, molybdopterin cofactor biosynthetic process, Mo-molybdopterin cofactor biosynthetic process, 26 10 33 45 16 48 28 14 30 ENSG00000164175 chr5 33944616 33984730 - SLC45A2 protein_coding This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 51151 GO:0033162, GO:0016021, GO:0016020, melanosome membrane, integral component of membrane, membrane, GO:0008506, GO:0008506, sucrose:proton symporter activity, sucrose:proton symporter activity, GO:0050896, GO:0048066, GO:0042438, GO:0015770, GO:0007601, response to stimulus, developmental pigmentation, melanin biosynthetic process, sucrose transport, visual perception, 2 8 0 12 9 0 7 3 2 ENSG00000164176 chr5 83940554 84384793 - EDIL3 protein_coding The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]. 10085 GO:1903561, GO:0070062, GO:0062023, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, GO:0005509, GO:0005201, GO:0005178, calcium ion binding, extracellular matrix structural constituent, integrin binding, GO:0010811, GO:0007275, GO:0007155, positive regulation of cell-substrate adhesion, multicellular organism development, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000164180 chr5 88189633 88269476 - TMEM161B protein_coding 153396 GO:0016021, integral component of membrane, 83 79 122 125 115 175 113 75 146 ENSG00000164181 chr5 60751791 60844389 - ELOVL7 protein_coding 79993 GO:0030176, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102756, GO:0102338, GO:0102337, GO:0102336, GO:0009922, GO:0009922, GO:0005515, very-long-chain 3-ketoacyl-CoA synthase activity, 3-oxo-lignoceronyl-CoA synthase activity, 3-oxo-cerotoyl-CoA synthase activity, 3-oxo-arachidoyl-CoA synthase activity, fatty acid elongase activity, fatty acid elongase activity, protein binding, GO:0042761, GO:0042761, GO:0035338, GO:0034626, GO:0034626, GO:0034625, GO:0030148, GO:0019367, GO:0019367, GO:0006636, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, sphingolipid biosynthetic process, fatty acid elongation, saturated fatty acid, fatty acid elongation, saturated fatty acid, unsaturated fatty acid biosynthetic process, 4 5 1 3 2 0 0 2 0 ENSG00000164182 chr5 60945129 61153037 + NDUFAF2 protein_coding NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]. 91942 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0009055, GO:0008137, GO:0005515, electron transfer activity, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0072593, GO:0061179, GO:0045333, GO:0032981, GO:0022904, reactive oxygen species metabolic process, negative regulation of insulin secretion involved in cellular response to glucose stimulus, cellular respiration, mitochondrial respiratory chain complex I assembly, respiratory electron transport chain, 0 2 2 34 5 5 11 2 20 ENSG00000164185 chr5 122129513 122153571 + ZNF474 protein_coding 133923 GO:0046872, GO:0005515, metal ion binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000164187 chr5 36098412 36151961 - LMBRD2 protein_coding 92255 GO:0016021, GO:0016020, GO:0016020, GO:0005886, integral component of membrane, membrane, membrane, plasma membrane, GO:0071875, GO:0071875, adrenergic receptor signaling pathway, adrenergic receptor signaling pathway, 136 134 155 149 146 156 119 108 96 ENSG00000164188 chr5 36248434 36302114 - RANBP3L protein_coding 202151 GO:0005737, GO:0005643, cytoplasm, nuclear pore, GO:0046332, GO:0031267, GO:0005515, GO:0005096, SMAD binding, small GTPase binding, protein binding, GTPase activator activity, GO:1901706, GO:0045668, GO:0045663, GO:0043547, GO:0006611, mesenchymal cell differentiation involved in bone development, negative regulation of osteoblast differentiation, positive regulation of myoblast differentiation, positive regulation of GTPase activity, protein export from nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000164190 chr5 36876759 37066413 + NIPBL protein_coding This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 25836 GO:0090694, GO:0090694, GO:0070062, GO:0043231, GO:0032116, GO:0032039, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, Scc2-Scc4 cohesin loading complex, Scc2-Scc4 cohesin loading complex, extracellular exosome, intracellular membrane-bounded organelle, SMC loading complex, integrator complex, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990841, GO:0070087, GO:0047485, GO:0042826, GO:0036033, GO:0008022, GO:0005515, GO:0003682, promoter-specific chromatin binding, chromo shadow domain binding, protein N-terminus binding, histone deacetylase binding, mediator complex binding, protein C-terminus binding, protein binding, chromatin binding, GO:2001224, GO:1990414, GO:1905406, GO:0071921, GO:0071733, GO:0071481, GO:0071169, GO:0070550, GO:0061038, GO:0061010, GO:0060325, GO:0050890, GO:0048703, GO:0048638, GO:0048592, GO:0048589, GO:0048565, GO:0048557, GO:0045995, GO:0045892, GO:0045778, GO:0045444, GO:0042634, GO:0042471, GO:0040018, GO:0035261, GO:0035136, GO:0035115, GO:0034613, GO:0034088, GO:0034087, GO:0031065, GO:0019827, GO:0007605, GO:0007420, GO:0007420, GO:0007076, GO:0007064, GO:0006974, GO:0003151, GO:0003007, GO:0003007, GO:0001656, GO:0000122, positive regulation of neuron migration, replication-born double-strand break repair via sister chromatid exchange, positive regulation of mitotic cohesin loading, cohesin loading, transcriptional activation by promoter-enhancer looping, cellular response to X-ray, establishment of protein localization to chromatin, rDNA condensation, uterus morphogenesis, gall bladder development, face morphogenesis, cognition, embryonic viscerocranium morphogenesis, regulation of developmental growth, eye morphogenesis, developmental growth, digestive tract development, embryonic digestive tract morphogenesis, regulation of embryonic development, negative regulation of transcription, DNA-templated, positive regulation of ossification, fat cell differentiation, regulation of hair cycle, ear morphogenesis, positive regulation of multicellular organism growth, external genitalia morphogenesis, forelimb morphogenesis, embryonic forelimb morphogenesis, cellular protein localization, maintenance of mitotic sister chromatid cohesion, establishment of mitotic sister chromatid cohesion, positive regulation of histone deacetylation, stem cell population maintenance, sensory perception of sound, brain development, brain development, mitotic chromosome condensation, mitotic sister chromatid cohesion, cellular response to DNA damage stimulus, outflow tract morphogenesis, heart morphogenesis, heart morphogenesis, metanephros development, negative regulation of transcription by RNA polymerase II, 4600 4104 6214 1705 2539 2609 2041 1842 2175 ENSG00000164197 chr5 64165844 64372869 + RNF180 protein_coding 285671 GO:0031227, GO:0016021, GO:0005635, intrinsic component of endoplasmic reticulum membrane, integral component of membrane, nuclear envelope, GO:0061630, GO:0046872, GO:0031624, ubiquitin protein ligase activity, metal ion binding, ubiquitin conjugating enzyme binding, GO:0050790, GO:0042428, GO:0042415, GO:0032436, GO:0031398, GO:0030534, GO:0000209, regulation of catalytic activity, serotonin metabolic process, norepinephrine metabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein ubiquitination, adult behavior, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000164199 chr5 90529344 91164437 + ADGRV1 protein_coding This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]. 84059 GO:1990696, GO:1990075, GO:0070062, GO:0060171, GO:0043235, GO:0016021, GO:0016020, GO:0009986, GO:0005886, GO:0005737, GO:0002142, GO:0002141, GO:0001917, USH2 complex, periciliary membrane compartment, extracellular exosome, stereocilium membrane, receptor complex, integral component of membrane, membrane, cell surface, plasma membrane, cytoplasm, stereocilia ankle link complex, stereocilia ankle link, photoreceptor inner segment, GO:0016787, GO:0010855, GO:0005515, GO:0005509, GO:0004930, GO:0004930, GO:0001965, hydrolase activity, adenylate cyclase inhibitor activity, protein binding, calcium ion binding, G protein-coupled receptor activity, G protein-coupled receptor activity, G-protein alpha-subunit binding, GO:0098609, GO:0097264, GO:0090037, GO:0071277, GO:0060122, GO:0050953, GO:0050910, GO:0050877, GO:0048839, GO:0048496, GO:0045494, GO:0045184, GO:0031647, GO:0030501, GO:0010739, GO:0007605, GO:0007601, GO:0007399, GO:0007194, GO:0007186, GO:0007166, cell-cell adhesion, self proteolysis, positive regulation of protein kinase C signaling, cellular response to calcium ion, inner ear receptor cell stereocilium organization, sensory perception of light stimulus, detection of mechanical stimulus involved in sensory perception of sound, nervous system process, inner ear development, maintenance of animal organ identity, photoreceptor cell maintenance, establishment of protein localization, regulation of protein stability, positive regulation of bone mineralization, positive regulation of protein kinase A signaling, sensory perception of sound, visual perception, nervous system development, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 70 87 93 46 41 51 55 27 45 ENSG00000164209 chr5 110738136 110765161 + SLC25A46 protein_coding This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]. 91137 GO:0016021, GO:0005741, GO:0005739, integral component of membrane, mitochondrial outer membrane, mitochondrion, GO:0005515, protein binding, GO:0090149, GO:0048936, GO:0031987, GO:0022011, GO:0021702, GO:0021554, GO:0016358, GO:0007416, GO:0006839, GO:0000422, mitochondrial membrane fission, peripheral nervous system neuron axonogenesis, locomotion involved in locomotory behavior, myelination in peripheral nervous system, cerebellar Purkinje cell differentiation, optic nerve development, dendrite development, synapse assembly, mitochondrial transport, autophagy of mitochondrion, 157 131 182 194 173 188 139 125 99 ENSG00000164211 chr5 111496033 111512590 - STARD4 protein_coding Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]. 134429 GO:0031410, GO:0005829, GO:0005783, GO:0005737, cytoplasmic vesicle, cytosol, endoplasmic reticulum, cytoplasm, GO:0120020, GO:0120020, GO:0015485, GO:0015485, GO:0005515, cholesterol transfer activity, cholesterol transfer activity, cholesterol binding, cholesterol binding, protein binding, GO:0120009, GO:0070859, GO:0070508, GO:0070508, GO:0032367, GO:0032367, GO:0010879, GO:0010879, GO:0010873, intermembrane lipid transfer, positive regulation of bile acid biosynthetic process, cholesterol import, cholesterol import, intracellular cholesterol transport, intracellular cholesterol transport, cholesterol transport involved in cholesterol storage, cholesterol transport involved in cholesterol storage, positive regulation of cholesterol esterification, 56 51 153 178 33 111 170 25 97 ENSG00000164219 chr5 115204012 115262872 - PGGT1B protein_coding Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]. 5229 GO:0005953, GO:0005953, CAAX-protein geranylgeranyltransferase complex, CAAX-protein geranylgeranyltransferase complex, GO:0042277, GO:0019840, GO:0008270, GO:0008144, GO:0005515, GO:0004662, GO:0004662, GO:0004661, peptide binding, isoprenoid binding, zinc ion binding, drug binding, protein binding, CAAX-protein geranylgeranyltransferase activity, CAAX-protein geranylgeranyltransferase activity, protein geranylgeranyltransferase activity, GO:0051771, GO:0045787, GO:0034097, GO:0018344, GO:0018344, GO:0018342, GO:0008284, negative regulation of nitric-oxide synthase biosynthetic process, positive regulation of cell cycle, response to cytokine, protein geranylgeranylation, protein geranylgeranylation, protein prenylation, positive regulation of cell population proliferation, 268 248 275 113 310 204 166 221 182 ENSG00000164220 chr5 76615482 76623434 - F2RL2 protein_coding This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]. 2151 GO:0032991, GO:0016324, GO:0005887, GO:0005886, GO:0005576, protein-containing complex, apical plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0015057, GO:0005515, GO:0004930, GO:0004435, thrombin-activated receptor activity, protein binding, G protein-coupled receptor activity, phosphatidylinositol phospholipase C activity, GO:0070493, GO:0051482, GO:0035025, GO:0030168, GO:0009611, GO:0007596, GO:0007186, thrombin-activated receptor signaling pathway, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of Rho protein signal transduction, platelet activation, response to wounding, blood coagulation, G protein-coupled receptor signaling pathway, 10 1 3 6 4 0 4 0 0 ENSG00000164221 chr5 115267188 115296831 - CCDC112 protein_coding 153733 GO:0005515, protein binding, 39 50 37 61 83 47 28 58 79 ENSG00000164236 chr5 10564330 10657816 + ANKRD33B protein_coding 651746 126 132 652 51 58 106 76 79 64 ENSG00000164237 chr5 10275875 10308026 - CMBL protein_coding CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010]. 134147 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0016787, hydrolase activity, GO:0006805, xenobiotic metabolic process, 0 0 0 2 0 0 0 0 0 ENSG00000164241 chr5 127042558 127073492 - C5orf63 protein_coding 401207 GO:0055114, oxidation-reduction process, 3 4 6 14 9 19 28 2 14 ENSG00000164244 chr5 127517609 127555089 + PRRC1 protein_coding 133619 GO:0005794, GO:0005737, Golgi apparatus, cytoplasm, GO:0042802, GO:0034237, GO:0005515, identical protein binding, protein kinase A regulatory subunit binding, protein binding, GO:0034199, activation of protein kinase A activity, 51 46 77 63 42 93 72 45 75 ENSG00000164251 chr5 76818933 76835315 + F2RL1 protein_coding This gene encodes a member of the G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resulting in a new amino terminus that acts as a tethered ligand that binds to an extracellular loop domain. Activation of the receptor has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016]. 2150 GO:0031143, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005769, pseudopodium, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, early endosome, GO:0038023, GO:0031681, GO:0015057, GO:0005515, GO:0005102, GO:0004930, GO:0004930, GO:0004930, GO:0001965, signaling receptor activity, G-protein beta-subunit binding, thrombin-activated receptor activity, protein binding, signaling receptor binding, G protein-coupled receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, G-protein alpha-subunit binding, GO:2000341, GO:1900135, GO:0097755, GO:0097029, GO:0097029, GO:0070963, GO:0070661, GO:0070493, GO:0070374, GO:0070374, GO:0061028, GO:0060100, GO:0051607, GO:0051482, GO:0050927, GO:0050921, GO:0050900, GO:0046330, GO:0046329, GO:0046328, GO:0045944, GO:0045217, GO:0045087, GO:0043547, GO:0043311, GO:0043123, GO:0043122, GO:0042119, GO:0035025, GO:0035025, GO:0035025, GO:0034145, GO:0034141, GO:0034140, GO:0034137, GO:0032930, GO:0032757, GO:0032755, GO:0032682, GO:0032613, GO:0032611, GO:0032609, GO:0032602, GO:0031274, GO:0030836, GO:0030335, GO:0030193, GO:0014068, GO:0010804, GO:0007596, GO:0007204, GO:0007204, GO:0007186, GO:0007186, GO:0006954, GO:0003104, GO:0002720, GO:0002690, GO:0002286, regulation of chemokine (C-X-C motif) ligand 2 production, positive regulation of renin secretion into blood stream, positive regulation of blood vessel diameter, mature conventional dendritic cell differentiation, mature conventional dendritic cell differentiation, positive regulation of neutrophil mediated killing of gram-negative bacterium, leukocyte proliferation, thrombin-activated receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, establishment of endothelial barrier, positive regulation of phagocytosis, engulfment, defense response to virus, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of positive chemotaxis, positive regulation of chemotaxis, leukocyte migration, positive regulation of JNK cascade, negative regulation of JNK cascade, regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, cell-cell junction maintenance, innate immune response, positive regulation of GTPase activity, positive regulation of eosinophil degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, neutrophil activation, positive regulation of Rho protein signal transduction, positive regulation of Rho protein signal transduction, positive regulation of Rho protein signal transduction, positive regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 3 signaling pathway, negative regulation of toll-like receptor 3 signaling pathway, positive regulation of toll-like receptor 2 signaling pathway, positive regulation of superoxide anion generation, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, negative regulation of chemokine production, interleukin-10 production, interleukin-1 beta production, interferon-gamma production, chemokine production, positive regulation of pseudopodium assembly, positive regulation of actin filament depolymerization, positive regulation of cell migration, regulation of blood coagulation, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of tumor necrosis factor-mediated signaling pathway, blood coagulation, positive regulation of cytosolic calcium ion concentration, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, positive regulation of glomerular filtration, positive regulation of cytokine production involved in immune response, positive regulation of leukocyte chemotaxis, T cell activation involved in immune response, 548 459 399 65 274 148 173 313 187 ENSG00000164252 chr5 77029251 77065234 + AGGF1 protein_coding This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]. 55109 GO:0048471, GO:0005737, GO:0005576, perinuclear region of cytoplasm, cytoplasm, extracellular region, GO:0005515, GO:0003676, protein binding, nucleic acid binding, GO:0045766, GO:0045766, GO:0007155, GO:0001938, GO:0001570, GO:0001525, positive regulation of angiogenesis, positive regulation of angiogenesis, cell adhesion, positive regulation of endothelial cell proliferation, vasculogenesis, angiogenesis, 56 48 55 41 60 35 49 55 27 ENSG00000164253 chr5 77425970 77620611 - WDR41 protein_coding 55255 GO:1990316, GO:0032045, GO:0005765, GO:0005737, Atg1/ULK1 kinase complex, guanyl-nucleotide exchange factor complex, lysosomal membrane, cytoplasm, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0010506, GO:0006914, regulation of autophagy, autophagy, 68 63 116 70 107 117 71 70 87 ENSG00000164256 chr5 23443586 23528597 + PRDM9 protein_coding The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015]. 56979 GO:0005694, GO:0005654, GO:0005634, GO:0005634, chromosome, nucleoplasm, nucleus, nucleus, GO:0046975, GO:0046975, GO:0046975, GO:0046872, GO:0043565, GO:0042803, GO:0042800, GO:0042800, GO:0042800, GO:0018024, GO:0010844, GO:0010844, GO:0010844, GO:0000976, histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K36 specific), metal ion binding, sequence-specific DNA binding, protein homodimerization activity, histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), histone-lysine N-methyltransferase activity, recombination hotspot binding, recombination hotspot binding, recombination hotspot binding, transcription regulatory region sequence-specific DNA binding, GO:2001255, GO:1990918, GO:1905516, GO:1905437, GO:0097692, GO:0097692, GO:0097676, GO:0097198, GO:0080182, GO:0080182, GO:0051568, GO:0051567, GO:0048232, GO:0044648, GO:0043066, GO:0016584, GO:0010845, GO:0010845, GO:0010468, GO:0007292, GO:0007129, GO:0006355, GO:0006311, positive regulation of histone H3-K36 trimethylation, double-strand break repair involved in meiotic recombination, positive regulation of fertilization, positive regulation of histone H3-K4 trimethylation, histone H3-K4 monomethylation, histone H3-K4 monomethylation, histone H3-K36 dimethylation, histone H3-K36 trimethylation, histone H3-K4 trimethylation, histone H3-K4 trimethylation, histone H3-K4 methylation, histone H3-K9 methylation, male gamete generation, histone H3-K4 dimethylation, negative regulation of apoptotic process, nucleosome positioning, positive regulation of reciprocal meiotic recombination, positive regulation of reciprocal meiotic recombination, regulation of gene expression, female gamete generation, homologous chromosome pairing at meiosis, regulation of transcription, DNA-templated, meiotic gene conversion, 0 0 0 0 0 0 0 0 0 ENSG00000164258 chr5 53560633 53683340 + NDUFS4 protein_coding This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 4724 GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0072593, GO:0051591, GO:0048146, GO:0045333, GO:0032981, GO:0032981, GO:0019933, GO:0007420, GO:0006120, GO:0006120, GO:0001932, reactive oxygen species metabolic process, response to cAMP, positive regulation of fibroblast proliferation, cellular respiration, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, cAMP-mediated signaling, brain development, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, regulation of protein phosphorylation, 7 3 2 25 16 15 21 4 23 ENSG00000164265 chr5 147870682 147882191 + SCGB3A2 protein_coding The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma.[provided by RefSeq, Mar 2010]. 117156 GO:0071682, GO:0005615, GO:0005576, endocytic vesicle lumen, extracellular space, extracellular region, GO:0006898, receptor-mediated endocytosis, 0 0 0 1 2 0 0 0 0 ENSG00000164266 chr5 147824568 147831786 - SPINK1 protein_coding The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]. 6690 GO:0070062, extracellular exosome, GO:0005515, GO:0004867, GO:0004866, protein binding, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:2001256, GO:1900004, GO:0090281, GO:0060046, GO:0050732, GO:0048240, GO:0010751, regulation of store-operated calcium entry, negative regulation of serine-type endopeptidase activity, negative regulation of calcium ion import, regulation of acrosome reaction, negative regulation of peptidyl-tyrosine phosphorylation, sperm capacitation, negative regulation of nitric oxide mediated signal transduction, 0 0 0 10 10 6 5 4 3 ENSG00000164270 chr5 148451032 148677235 - HTR4 protein_coding This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]. 3360 GO:0045202, GO:0030425, GO:0016020, GO:0005887, GO:0005886, GO:0005768, GO:0005737, synapse, dendrite, membrane, integral component of plasma membrane, plasma membrane, endosome, cytoplasm, GO:0051378, GO:0030594, GO:0005515, GO:0004993, GO:0004993, serotonin binding, neurotransmitter receptor activity, protein binding, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, GO:0032098, GO:0007268, GO:0007198, GO:0007187, GO:0007186, regulation of appetite, chemical synaptic transmission, adenylate cyclase-inhibiting serotonin receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 2 0 ENSG00000164283 chr5 54977864 55022671 - ESM1 protein_coding This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 11082 GO:0005576, extracellular region, GO:0005520, GO:0005515, GO:0005178, GO:0005178, GO:0005171, GO:0005171, insulin-like growth factor binding, protein binding, integrin binding, integrin binding, hepatocyte growth factor receptor binding, hepatocyte growth factor receptor binding, GO:1902204, GO:1902204, GO:0008284, GO:0002040, GO:0001525, GO:0001525, positive regulation of hepatocyte growth factor receptor signaling pathway, positive regulation of hepatocyte growth factor receptor signaling pathway, positive regulation of cell population proliferation, sprouting angiogenesis, angiogenesis, angiogenesis, 2 0 2 0 0 0 2 0 7 ENSG00000164284 chr5 149345430 149354583 + GRPEL2 protein_coding 134266 GO:0005739, GO:0001405, mitochondrion, PAM complex, Tim23 associated import motor, GO:0051087, GO:0051082, GO:0042803, GO:0000774, chaperone binding, unfolded protein binding, protein homodimerization activity, adenyl-nucleotide exchange factor activity, GO:0050790, GO:0030150, GO:0006457, regulation of catalytic activity, protein import into mitochondrial matrix, protein folding, 43 24 48 18 20 63 13 10 13 ENSG00000164287 chr5 55112995 55173175 - CDC20B protein_coding 166979 GO:0005680, anaphase-promoting complex, GO:1990757, GO:0010997, GO:0005515, ubiquitin ligase activator activity, anaphase-promoting complex binding, protein binding, GO:1905786, GO:1904668, GO:0031145, positive regulation of anaphase-promoting complex-dependent catabolic process, positive regulation of ubiquitin protein ligase activity, anaphase-promoting complex-dependent catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000164291 chr5 95555074 95605064 + ARSK protein_coding Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]. 153642 GO:0005788, GO:0005576, endoplasmic reticulum lumen, extracellular region, GO:0046872, GO:0004065, metal ion binding, arylsulfatase activity, 2 3 4 9 9 3 4 5 2 ENSG00000164292 chr5 95713522 95824383 + RHOBTB3 protein_coding RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]. 22836 GO:0070062, GO:0043231, GO:0042995, GO:0032588, GO:0031410, GO:0005938, GO:0005886, GO:0005856, GO:0005829, extracellular exosome, intracellular membrane-bounded organelle, cell projection, trans-Golgi network membrane, cytoplasmic vesicle, cell cortex, plasma membrane, cytoskeleton, cytosol, GO:0031267, GO:0019901, GO:0016887, GO:0016887, GO:0005525, GO:0005524, GO:0005515, GO:0003924, small GTPase binding, protein kinase binding, ATPase activity, ATPase activity, GTP binding, ATP binding, protein binding, GTPase activity, GO:0042147, GO:0032956, GO:0030865, GO:0016477, GO:0008584, GO:0008360, GO:0007163, GO:0007015, retrograde transport, endosome to Golgi, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, cell migration, male gonad development, regulation of cell shape, establishment or maintenance of cell polarity, actin filament organization, 17 39 53 15 14 9 12 17 18 ENSG00000164294 chr5 55160118 55167071 + GPX8 protein_coding 493869 GO:0016021, GO:0005788, integral component of membrane, endoplasmic reticulum lumen, GO:0005515, GO:0004602, GO:0004601, GO:0004601, protein binding, glutathione peroxidase activity, peroxidase activity, peroxidase activity, GO:0098869, GO:0055114, GO:0034599, cellular oxidant detoxification, oxidation-reduction process, cellular response to oxidative stress, 0 0 0 0 0 6 0 0 0 ENSG00000164296 chr5 149993118 150001167 - TIGD6 protein_coding The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009]. 81789 GO:0005634, GO:0005634, nucleus, nucleus, GO:0003677, DNA binding, 5 5 12 15 12 17 5 4 10 ENSG00000164299 chr5 80319625 80321842 + SPZ1 protein_coding This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011]. 84654 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003700, GO:0003677, protein binding, DNA-binding transcription factor activity, DNA binding, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000164300 chr5 80111651 80256079 - SERINC5 protein_coding 256987 GO:0070062, GO:0048471, GO:0043231, GO:0043209, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005813, GO:0005794, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, myelin sheath, integral component of membrane, membrane, plasma membrane, plasma membrane, cytosol, centrosome, Golgi apparatus, GO:1904222, GO:1904219, GO:0051607, GO:0045087, GO:0042552, GO:0016032, GO:0009597, GO:0008654, GO:0006665, GO:0006658, GO:0006564, positive regulation of serine C-palmitoyltransferase activity, positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity, defense response to virus, innate immune response, myelination, viral process, detection of virus, phospholipid biosynthetic process, sphingolipid metabolic process, phosphatidylserine metabolic process, L-serine biosynthetic process, 467 481 597 559 492 606 546 341 446 ENSG00000164303 chr4 184088706 184221230 - ENPP6 protein_coding 133121 GO:0070062, GO:0031225, GO:0005886, GO:0005886, GO:0005886, GO:0005576, extracellular exosome, anchored component of membrane, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0047390, GO:0047390, GO:0046872, GO:0008889, GO:0008081, GO:0005515, glycerophosphocholine cholinephosphodiesterase activity, glycerophosphocholine cholinephosphodiesterase activity, metal ion binding, glycerophosphodiester phosphodiesterase activity, phosphoric diester hydrolase activity, protein binding, GO:0046475, GO:0019695, GO:0019695, GO:0006629, GO:0006629, glycerophospholipid catabolic process, choline metabolic process, choline metabolic process, lipid metabolic process, lipid metabolic process, 0 0 0 4 0 0 0 0 0 ENSG00000164304 chr6 7326656 7389743 - CAGE1 protein_coding 285782 GO:0005515, protein binding, 0 0 1 1 0 5 5 0 0 ENSG00000164305 chr4 184627696 184649509 - CASP3 protein_coding The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is processed by caspases 8, 9, and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. [provided by RefSeq, Aug 2017]. 836 GO:0045121, GO:0043025, GO:0031264, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, membrane raft, neuronal cell body, death-inducing signaling complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0097200, GO:0097199, GO:0097153, GO:0097153, GO:0097153, GO:0044877, GO:0016005, GO:0008233, GO:0005515, GO:0005123, GO:0004861, GO:0004197, GO:0004190, GO:0002020, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, cysteine-type endopeptidase activity involved in apoptotic process, cysteine-type endopeptidase activity involved in apoptotic process, protein-containing complex binding, phospholipase A2 activator activity, peptidase activity, protein binding, death receptor binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, cysteine-type endopeptidase activity, aspartic-type endopeptidase activity, protease binding, GO:1902004, GO:0097194, GO:0097194, GO:0097194, GO:0097192, GO:0097190, GO:0072734, GO:0071887, GO:0051402, GO:0051384, GO:0051146, GO:0048011, GO:0046677, GO:0046007, GO:0045736, GO:0045165, GO:0043525, GO:0043200, GO:0043085, GO:0043066, GO:0043065, GO:0043029, GO:0042542, GO:0042493, GO:0042060, GO:0035329, GO:0035094, GO:0034612, GO:0034349, GO:0032496, GO:0032355, GO:0032025, GO:0031647, GO:0030889, GO:0030220, GO:0030218, GO:0030218, GO:0030218, GO:0030216, GO:0030182, GO:0021766, GO:0019221, GO:0016485, GO:0016241, GO:0010165, GO:0009749, GO:0009411, GO:0008627, GO:0007611, GO:0007605, GO:0007507, GO:0007413, GO:0006974, GO:0006915, GO:0006915, GO:0006508, GO:0006309, GO:0001782, GO:0001666, GO:0001554, positive regulation of amyloid-beta formation, execution phase of apoptosis, execution phase of apoptosis, execution phase of apoptosis, extrinsic apoptotic signaling pathway in absence of ligand, apoptotic signaling pathway, cellular response to staurosporine, leukocyte apoptotic process, neuron apoptotic process, response to glucocorticoid, striated muscle cell differentiation, neurotrophin TRK receptor signaling pathway, response to antibiotic, negative regulation of activated T cell proliferation, negative regulation of cyclin-dependent protein serine/threonine kinase activity, cell fate commitment, positive regulation of neuron apoptotic process, response to amino acid, positive regulation of catalytic activity, negative regulation of apoptotic process, positive regulation of apoptotic process, T cell homeostasis, response to hydrogen peroxide, response to drug, wound healing, hippo signaling, response to nicotine, response to tumor necrosis factor, glial cell apoptotic process, response to lipopolysaccharide, response to estradiol, response to cobalt ion, regulation of protein stability, negative regulation of B cell proliferation, platelet formation, erythrocyte differentiation, erythrocyte differentiation, erythrocyte differentiation, keratinocyte differentiation, neuron differentiation, hippocampus development, cytokine-mediated signaling pathway, protein processing, regulation of macroautophagy, response to X-ray, response to glucose, response to UV, intrinsic apoptotic signaling pathway in response to osmotic stress, learning or memory, sensory perception of sound, heart development, axonal fasciculation, cellular response to DNA damage stimulus, apoptotic process, apoptotic process, proteolysis, apoptotic DNA fragmentation, B cell homeostasis, response to hypoxia, luteolysis, 368 387 508 222 237 241 170 181 194 ENSG00000164306 chr4 184649613 184694963 + PRIMPOL protein_coding This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 201973 GO:0005759, GO:0005759, GO:0005657, GO:0005634, GO:0005634, mitochondrial matrix, mitochondrial matrix, replication fork, nucleus, nucleus, GO:0030145, GO:0030145, GO:0008270, GO:0005515, GO:0003896, GO:0003896, GO:0003887, GO:0003887, GO:0003682, GO:0003682, manganese ion binding, manganese ion binding, zinc ion binding, protein binding, DNA primase activity, DNA primase activity, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, chromatin binding, chromatin binding, GO:0062176, GO:0043504, GO:0042276, GO:0031297, GO:0031297, GO:0031297, GO:0019985, GO:0019985, GO:0009411, GO:0009411, GO:0006269, GO:0006264, GO:0006264, R-loop disassembly, mitochondrial DNA repair, error-prone translesion synthesis, replication fork processing, replication fork processing, replication fork processing, translesion synthesis, translesion synthesis, response to UV, response to UV, DNA replication, synthesis of RNA primer, mitochondrial DNA replication, mitochondrial DNA replication, 37 31 55 45 46 47 23 53 28 ENSG00000164307 chr5 96760810 96808100 - ERAP1 protein_coding The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]. 51752 GO:0070062, GO:0016021, GO:0016020, GO:0005886, GO:0005829, GO:0005789, GO:0005788, GO:0005783, GO:0005737, GO:0005615, GO:0005576, extracellular exosome, integral component of membrane, membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, cytoplasm, extracellular space, extracellular region, GO:0070006, GO:0042277, GO:0008270, GO:0008270, GO:0008235, GO:0005515, GO:0005151, GO:0005138, GO:0004177, metalloaminopeptidase activity, peptide binding, zinc ion binding, zinc ion binding, metalloexopeptidase activity, protein binding, interleukin-1, type II receptor binding, interleukin-6 receptor binding, aminopeptidase activity, GO:0045766, GO:0045444, GO:0045088, GO:0043171, GO:0019885, GO:0019885, GO:0009617, GO:0008217, GO:0008217, GO:0008217, GO:0007165, GO:0006509, GO:0006508, GO:0002474, GO:0002250, GO:0001525, positive regulation of angiogenesis, fat cell differentiation, regulation of innate immune response, peptide catabolic process, antigen processing and presentation of endogenous peptide antigen via MHC class I, antigen processing and presentation of endogenous peptide antigen via MHC class I, response to bacterium, regulation of blood pressure, regulation of blood pressure, regulation of blood pressure, signal transduction, membrane protein ectodomain proteolysis, proteolysis, antigen processing and presentation of peptide antigen via MHC class I, adaptive immune response, angiogenesis, 686 631 685 562 466 577 531 431 475 ENSG00000164308 chr5 96875939 96919716 + ERAP2 protein_coding This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016]. 64167 GO:0016021, GO:0005886, GO:0005789, GO:0005788, GO:0005788, GO:0005737, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum lumen, cytoplasm, GO:0070006, GO:0042277, GO:0008270, GO:0008270, GO:0008237, GO:0004177, metalloaminopeptidase activity, peptide binding, zinc ion binding, zinc ion binding, metallopeptidase activity, aminopeptidase activity, GO:0043171, GO:0019885, GO:0008217, GO:0008217, GO:0007165, GO:0006508, GO:0002474, GO:0002250, peptide catabolic process, antigen processing and presentation of endogenous peptide antigen via MHC class I, regulation of blood pressure, regulation of blood pressure, signal transduction, proteolysis, antigen processing and presentation of peptide antigen via MHC class I, adaptive immune response, 117 544 540 214 509 521 202 425 441 ENSG00000164309 chr5 79689877 79800240 + CMYA5 protein_coding 202333 GO:0048471, GO:0031430, GO:0016529, GO:0005634, perinuclear region of cytoplasm, M band, sarcoplasmic reticulum, nucleus, GO:0005515, protein binding, 1 1 2 17 7 3 9 3 1 ENSG00000164318 chr5 38258409 38465021 + EGFLAM protein_coding 133584 GO:0048786, GO:0043083, GO:0042995, GO:0005614, GO:0005604, presynaptic active zone, synaptic cleft, cell projection, interstitial matrix, basement membrane, GO:0005539, GO:0005509, glycosaminoglycan binding, calcium ion binding, GO:0030198, GO:0019800, GO:0010811, GO:0009888, GO:0009887, extracellular matrix organization, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, positive regulation of cell-substrate adhesion, tissue development, animal organ morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000164323 chr4 185159665 185209504 - CFAP97 protein_coding 57587 47 26 51 127 65 159 134 38 104 ENSG00000164325 chr5 73173195 73175143 + TMEM174 protein_coding 134288 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000164326 chr5 71719163 71721048 + CARTPT protein_coding This gene encodes a preproprotein that is proteolytically processed to generate multiple biologically active peptides. These peptides play a role in appetite, energy balance, maintenance of body weight, reward and addiction, and the stress response. Expression of a similar gene transcript in rodents is upregulated following administration of cocaine and amphetamine. Mutations in this gene are associated with susceptibility to obesity in humans. [provided by RefSeq, Feb 2016]. 9607 GO:0045202, GO:0030141, GO:0005615, GO:0005615, GO:0005615, synapse, secretory granule, extracellular space, extracellular space, extracellular space, GO:0005515, GO:0005184, GO:0003674, protein binding, neuropeptide hormone activity, molecular_function, GO:0070253, GO:0070093, GO:0051971, GO:0050796, GO:0045779, GO:0045777, GO:0045671, GO:0032922, GO:0032812, GO:0032099, GO:0032099, GO:0032099, GO:0009267, GO:0009267, GO:0008343, GO:0007268, GO:0007267, GO:0007218, GO:0007186, GO:0007165, GO:0001678, GO:0000186, somatostatin secretion, negative regulation of glucagon secretion, positive regulation of transmission of nerve impulse, regulation of insulin secretion, negative regulation of bone resorption, positive regulation of blood pressure, negative regulation of osteoclast differentiation, circadian regulation of gene expression, positive regulation of epinephrine secretion, negative regulation of appetite, negative regulation of appetite, negative regulation of appetite, cellular response to starvation, cellular response to starvation, adult feeding behavior, chemical synaptic transmission, cell-cell signaling, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cellular glucose homeostasis, activation of MAPKK activity, 0 0 0 0 0 0 0 0 0 ENSG00000164327 chr5 38937919 39074408 - RICTOR protein_coding RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]. 253260 GO:0031932, GO:0031932, GO:0005829, TORC2 complex, TORC2 complex, cytosol, GO:0043539, GO:0043022, GO:0019901, GO:0005515, protein serine/threonine kinase activator activity, ribosome binding, protein kinase binding, protein binding, GO:2000114, GO:0051897, GO:0051896, GO:0050731, GO:0050727, GO:0043087, GO:0038203, GO:0033135, GO:0032956, GO:0032148, GO:0032008, GO:0031929, GO:0031532, GO:0030838, GO:0018105, GO:0016032, GO:0010468, GO:0009792, GO:0001938, regulation of establishment of cell polarity, positive regulation of protein kinase B signaling, regulation of protein kinase B signaling, positive regulation of peptidyl-tyrosine phosphorylation, regulation of inflammatory response, regulation of GTPase activity, TORC2 signaling, regulation of peptidyl-serine phosphorylation, regulation of actin cytoskeleton organization, activation of protein kinase B activity, positive regulation of TOR signaling, TOR signaling, actin cytoskeleton reorganization, positive regulation of actin filament polymerization, peptidyl-serine phosphorylation, viral process, regulation of gene expression, embryo development ending in birth or egg hatching, positive regulation of endothelial cell proliferation, 8014 8360 8514 5627 9535 8761 7754 6455 7650 ENSG00000164329 chr5 79612120 79686648 + TENT2 protein_coding 167153 GO:0031380, GO:0005829, GO:0005737, GO:0005634, nuclear RNA-directed RNA polymerase complex, cytosol, cytoplasm, nucleus, GO:0070566, GO:0046872, GO:0034062, GO:0016779, GO:0005524, GO:0005515, GO:0004652, GO:0004652, adenylyltransferase activity, metal ion binding, 5'-3' RNA polymerase activity, nucleotidyltransferase activity, ATP binding, protein binding, polynucleotide adenylyltransferase activity, polynucleotide adenylyltransferase activity, GO:2000626, GO:1990603, GO:0071044, GO:0060041, GO:0043631, GO:0043489, GO:0030182, GO:0021766, GO:0006397, GO:0006378, GO:0002244, negative regulation of miRNA catabolic process, dark adaptation, histone mRNA catabolic process, retina development in camera-type eye, RNA polyadenylation, RNA stabilization, neuron differentiation, hippocampus development, mRNA processing, mRNA polyadenylation, hematopoietic progenitor cell differentiation, 549 512 693 438 635 674 500 467 501 ENSG00000164330 chr5 158695916 159099761 - EBF1 protein_coding 1879 GO:0000785, GO:0000785, chromatin, chromatin, GO:0070742, GO:0046983, GO:0046872, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, C2H2 zinc finger domain binding, protein dimerization activity, metal ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007275, GO:0006357, multicellular organism development, regulation of transcription by RNA polymerase II, 1 8 8 2 4 2 2 2 4 ENSG00000164331 chr5 73552335 73565686 - ANKRA2 protein_coding 57763 GO:1990393, GO:0032991, GO:0016020, GO:0005856, GO:0005829, GO:0005634, 3M complex, protein-containing complex, membrane, cytoskeleton, cytosol, nucleus, GO:0050750, GO:0042826, GO:0042826, GO:0031625, GO:0019901, GO:0005515, low-density lipoprotein particle receptor binding, histone deacetylase binding, histone deacetylase binding, ubiquitin protein ligase binding, protein kinase binding, protein binding, GO:0043254, GO:0010468, regulation of protein-containing complex assembly, regulation of gene expression, 329 324 380 232 252 259 267 214 283 ENSG00000164332 chr5 159263081 159286040 + UBLCP1 protein_coding 134510 GO:0005730, GO:0005654, GO:0005634, GO:0005634, nucleolus, nucleoplasm, nucleus, nucleus, GO:0106307, GO:0106306, GO:0005515, GO:0004722, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:0006470, GO:0006470, protein dephosphorylation, protein dephosphorylation, 593 483 776 222 309 356 265 240 276 ENSG00000164334 chr5 119629559 119635822 + FAM170A protein_coding 340069 GO:0005634, GO:0005634, GO:0005634, nucleus, nucleus, nucleus, GO:0046872, GO:0003677, metal ion binding, DNA binding, GO:0045893, GO:0045893, GO:0009566, GO:0006366, GO:0006366, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, fertilization, transcription by RNA polymerase II, transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000164338 chr5 73565443 73583377 + UTP15 protein_coding 84135 GO:0005783, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0001650, endoplasmic reticulum, cytoplasm, nucleolus, nucleolus, nucleoplasm, fibrillar center, GO:0005515, GO:0003723, protein binding, RNA binding, GO:2000234, GO:0045943, GO:0045943, GO:0006364, GO:0006364, positive regulation of rRNA processing, positive regulation of transcription by RNA polymerase I, positive regulation of transcription by RNA polymerase I, rRNA processing, rRNA processing, 76 66 88 92 62 75 96 44 48 ENSG00000164342 chr4 186069152 186088069 + TLR3 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. [provided by RefSeq, Jul 2008]. 7098 GO:0036020, GO:0031012, GO:0016020, GO:0010008, GO:0009986, GO:0005887, GO:0005789, GO:0005769, GO:0005765, GO:0005737, GO:0005615, GO:0000139, endolysosome membrane, extracellular matrix, membrane, endosome membrane, cell surface, integral component of plasma membrane, endoplasmic reticulum membrane, early endosome, lysosomal membrane, cytoplasm, extracellular space, Golgi membrane, GO:0042802, GO:0038023, GO:0005515, GO:0004888, GO:0003725, GO:0003725, GO:0003725, identical protein binding, signaling receptor activity, protein binding, transmembrane signaling receptor activity, double-stranded RNA binding, double-stranded RNA binding, double-stranded RNA binding, GO:1901224, GO:0097527, GO:0097191, GO:0097190, GO:0071360, GO:0071346, GO:0071260, GO:0070266, GO:0051607, GO:0051092, GO:0050729, GO:0046330, GO:0045944, GO:0045766, GO:0045671, GO:0045087, GO:0043331, GO:0043330, GO:0043123, GO:0043065, GO:0042742, GO:0035690, GO:0035666, GO:0035458, GO:0034346, GO:0034138, GO:0034128, GO:0034123, GO:0032760, GO:0032757, GO:0032755, GO:0032735, GO:0032729, GO:0032728, GO:0032728, GO:0032728, GO:0032727, GO:0032722, GO:0010628, GO:0009597, GO:0008584, GO:0007252, GO:0007250, GO:0007249, GO:0007165, GO:0006972, GO:0002756, GO:0002730, GO:0002224, GO:0001774, positive regulation of NIK/NF-kappaB signaling, necroptotic signaling pathway, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, cellular response to exogenous dsRNA, cellular response to interferon-gamma, cellular response to mechanical stimulus, necroptotic process, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of inflammatory response, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, negative regulation of osteoclast differentiation, innate immune response, response to dsRNA, response to exogenous dsRNA, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, defense response to bacterium, cellular response to drug, TRIF-dependent toll-like receptor signaling pathway, cellular response to interferon-beta, positive regulation of type III interferon production, toll-like receptor 3 signaling pathway, negative regulation of MyD88-independent toll-like receptor signaling pathway, positive regulation of toll-like receptor signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, positive regulation of interferon-gamma production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of chemokine production, positive regulation of gene expression, detection of virus, male gonad development, I-kappaB phosphorylation, activation of NF-kappaB-inducing kinase activity, I-kappaB kinase/NF-kappaB signaling, signal transduction, hyperosmotic response, MyD88-independent toll-like receptor signaling pathway, regulation of dendritic cell cytokine production, toll-like receptor signaling pathway, microglial cell activation, 2 4 12 6 6 16 3 6 3 ENSG00000164344 chr4 186208979 186258471 + KLKB1 protein_coding This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 3818 GO:0070062, GO:0005886, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, plasma membrane, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0051919, GO:0042730, GO:0031639, GO:0031638, GO:0022617, GO:0007597, GO:0006508, GO:0002542, positive regulation of fibrinolysis, fibrinolysis, plasminogen activation, zymogen activation, extracellular matrix disassembly, blood coagulation, intrinsic pathway, proteolysis, Factor XII activation, 0 0 5 3 0 0 7 0 0 ENSG00000164346 chr5 74766991 74780113 + NSA2 protein_coding This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]. 10412 GO:0030687, GO:0005730, preribosome, large subunit precursor, nucleolus, GO:0003723, RNA binding, GO:0000470, GO:0000460, maturation of LSU-rRNA, maturation of 5.8S rRNA, 108 75 154 305 121 263 231 115 239 ENSG00000164347 chr5 74721204 74767371 - GFM2 protein_coding Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]. 84340 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, GO:0003746, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, translation elongation factor activity, GO:0070126, GO:0070125, GO:0032790, GO:0032790, GO:0032543, GO:0032543, mitochondrial translational termination, mitochondrial translational elongation, ribosome disassembly, ribosome disassembly, mitochondrial translation, mitochondrial translation, 108 128 111 205 164 198 172 117 114 ENSG00000164362 chr5 1253147 1295069 - TERT protein_coding Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]. 7015 GO:1990572, GO:0042645, GO:0031379, GO:0016607, GO:0016605, GO:0005886, GO:0005829, GO:0005730, GO:0005730, GO:0005697, GO:0005697, GO:0005697, GO:0005654, GO:0005654, GO:0005634, GO:0000783, GO:0000781, GO:0000781, GO:0000333, GO:0000333, GO:0000333, GO:0000333, TERT-RMRP complex, mitochondrial nucleoid, RNA-directed RNA polymerase complex, nuclear speck, PML body, plasma membrane, cytosol, nucleolus, nucleolus, telomerase holoenzyme complex, telomerase holoenzyme complex, telomerase holoenzyme complex, nucleoplasm, nucleoplasm, nucleus, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, telomerase catalytic core complex, telomerase catalytic core complex, telomerase catalytic core complex, telomerase catalytic core complex, GO:0098680, GO:0070034, GO:0070034, GO:0070034, GO:0051087, GO:0047485, GO:0046872, GO:0042803, GO:0042803, GO:0042802, GO:0042162, GO:0008022, GO:0005515, GO:0003968, GO:0003964, GO:0003964, GO:0003723, GO:0003721, GO:0003721, GO:0003721, GO:0003721, GO:0003720, GO:0003720, GO:0003677, GO:0001223, GO:0000049, template-free RNA nucleotidyltransferase, telomerase RNA binding, telomerase RNA binding, telomerase RNA binding, chaperone binding, protein N-terminus binding, metal ion binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, telomeric DNA binding, protein C-terminus binding, protein binding, RNA-directed 5'-3' RNA polymerase activity, RNA-directed DNA polymerase activity, RNA-directed DNA polymerase activity, RNA binding, telomerase RNA reverse transcriptase activity, telomerase RNA reverse transcriptase activity, telomerase RNA reverse transcriptase activity, telomerase RNA reverse transcriptase activity, telomerase activity, telomerase activity, DNA binding, transcription coactivator binding, tRNA binding, GO:2001240, GO:2000773, GO:2000773, GO:2000648, GO:2000352, GO:1904837, GO:1904754, GO:1904751, GO:1904707, GO:1903799, GO:1903704, GO:1903620, GO:1902895, GO:1900087, GO:0090399, GO:0071897, GO:0071456, GO:0070200, GO:0062103, GO:0051000, GO:0046686, GO:0046326, GO:0045766, GO:0043524, GO:0042635, GO:0032092, GO:0031647, GO:0031647, GO:0030422, GO:0030177, GO:0022616, GO:0010629, GO:0007005, GO:0007004, GO:0007004, GO:0007004, GO:0007004, GO:0007004, GO:0006278, GO:0001172, GO:0000723, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of cellular senescence, negative regulation of cellular senescence, positive regulation of stem cell proliferation, negative regulation of endothelial cell apoptotic process, beta-catenin-TCF complex assembly, positive regulation of vascular associated smooth muscle cell migration, positive regulation of protein localization to nucleolus, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of production of miRNAs involved in gene silencing by miRNA, negative regulation of production of siRNA involved in RNA interference, positive regulation of transdifferentiation, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of G1/S transition of mitotic cell cycle, replicative senescence, DNA biosynthetic process, cellular response to hypoxia, establishment of protein localization to telomere, double-stranded RNA biosynthetic process, positive regulation of nitric-oxide synthase activity, response to cadmium ion, positive regulation of glucose import, positive regulation of angiogenesis, negative regulation of neuron apoptotic process, positive regulation of hair cycle, positive regulation of protein binding, regulation of protein stability, regulation of protein stability, production of siRNA involved in RNA interference, positive regulation of Wnt signaling pathway, DNA strand elongation, negative regulation of gene expression, mitochondrion organization, telomere maintenance via telomerase, telomere maintenance via telomerase, telomere maintenance via telomerase, telomere maintenance via telomerase, telomere maintenance via telomerase, RNA-dependent DNA biosynthetic process, transcription, RNA-templated, telomere maintenance, 0 0 0 5 0 0 0 0 0 ENSG00000164363 chr5 1225355 1246189 + SLC6A18 protein_coding The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]. 348932 GO:0031526, GO:0016324, GO:0005887, GO:0005886, GO:0005886, GO:0005886, brush border membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0015293, GO:0015171, GO:0015171, symporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, GO:0035725, GO:0006865, GO:0006865, GO:0006836, GO:0003333, sodium ion transmembrane transport, amino acid transport, amino acid transport, neurotransmitter transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000164366 chr5 196871 218215 - CCDC127 protein_coding 133957 9 8 24 31 5 28 22 3 19 ENSG00000164379 chr6 1312440 1314748 + FOXQ1 protein_coding FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009]. 94234 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0043524, GO:0031069, GO:0030154, GO:0009653, GO:0006357, GO:0000122, negative regulation of neuron apoptotic process, hair follicle morphogenesis, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 0 0 0 0 0 0 0 1 ENSG00000164385 chr6 2621913 2634603 - LINC01600 lincRNA 154386 0 0 0 0 0 0 1 0 0 ENSG00000164393 chr6 47656436 47697797 + ADGRF2 protein_coding 222611 GO:0016021, integral component of membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, GO:0007166, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000164398 chr5 131949973 132012243 - ACSL6 protein_coding The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]. 23305 GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005783, GO:0005783, GO:0005778, GO:0005741, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, peroxisomal membrane, mitochondrial outer membrane, GO:0102391, GO:0047676, GO:0047676, GO:0042803, GO:0005524, GO:0004467, GO:0004467, GO:0004467, GO:0004467, GO:0003996, decanoate-CoA ligase activity, arachidonate-CoA ligase activity, arachidonate-CoA ligase activity, protein homodimerization activity, ATP binding, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, acyl-CoA ligase activity, GO:0035338, GO:0035338, GO:0008610, GO:0006637, GO:0001676, GO:0001676, GO:0000038, long-chain fatty-acyl-CoA biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, lipid biosynthetic process, acyl-CoA metabolic process, long-chain fatty acid metabolic process, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 14 4 11 47 4 24 45 12 51 ENSG00000164399 chr5 132060529 132063204 + IL3 protein_coding The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008]. 3562 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008083, GO:0005135, GO:0005125, growth factor activity, interleukin-3 receptor binding, cytokine activity, GO:0050731, GO:0042531, GO:0035162, GO:0019221, GO:0008284, GO:0008284, GO:0007399, GO:0007267, GO:0006955, GO:0001959, GO:0000165, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of tyrosine phosphorylation of STAT protein, embryonic hemopoiesis, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, nervous system development, cell-cell signaling, immune response, regulation of cytokine-mediated signaling pathway, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000164400 chr5 132073790 132076170 + CSF2 protein_coding The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020]. 1437 GO:0043231, GO:0005615, GO:0005615, GO:0005576, intracellular membrane-bounded organelle, extracellular space, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005129, GO:0005125, GO:0005125, growth factor activity, protein binding, granulocyte macrophage colony-stimulating factor receptor binding, cytokine activity, cytokine activity, GO:2001240, GO:0097028, GO:0097011, GO:0071803, GO:0071222, GO:0045892, GO:0045637, GO:0045187, GO:0043011, GO:0042531, GO:0042116, GO:0042045, GO:0034405, GO:0034021, GO:0032747, GO:0030225, GO:0030224, GO:0030223, GO:0030099, GO:0019221, GO:0010744, GO:0010628, GO:0008284, GO:0006955, GO:0001892, GO:0001821, GO:0000165, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, dendritic cell differentiation, cellular response to granulocyte macrophage colony-stimulating factor stimulus, positive regulation of podosome assembly, cellular response to lipopolysaccharide, negative regulation of transcription, DNA-templated, regulation of myeloid cell differentiation, regulation of circadian sleep/wake cycle, sleep, myeloid dendritic cell differentiation, positive regulation of tyrosine phosphorylation of STAT protein, macrophage activation, epithelial fluid transport, response to fluid shear stress, response to silicon dioxide, positive regulation of interleukin-23 production, macrophage differentiation, monocyte differentiation, neutrophil differentiation, myeloid cell differentiation, cytokine-mediated signaling pathway, positive regulation of macrophage derived foam cell differentiation, positive regulation of gene expression, positive regulation of cell population proliferation, immune response, embryonic placenta development, histamine secretion, MAPK cascade, 0 0 0 0 0 1 6 0 0 ENSG00000164402 chr5 132750817 132807241 - SEPT8 protein_coding This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 23176 GO:0098793, GO:0032153, GO:0031105, GO:0030672, GO:0030424, GO:0015630, GO:0005940, presynapse, cell division site, septin complex, synaptic vesicle membrane, axon, microtubule cytoskeleton, septin ring, GO:0060090, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, GTP binding, protein binding, GTPase activity, GO:0061640, GO:0035542, GO:0034613, cytoskeleton-dependent cytokinesis, regulation of SNARE complex assembly, cellular protein localization, 7 1 16 28 7 37 29 2 20 ENSG00000164403 chr5 132822141 132830898 - SHROOM1 protein_coding SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]. 134549 GO:0043296, GO:0030864, GO:0016324, GO:0005912, GO:0005874, apical junction complex, cortical actin cytoskeleton, apical plasma membrane, adherens junction, microtubule, GO:0051015, GO:0051015, GO:0045159, actin filament binding, actin filament binding, myosin II binding, GO:0051017, GO:0051017, GO:0007015, GO:0000902, GO:0000902, actin filament bundle assembly, actin filament bundle assembly, actin filament organization, cell morphogenesis, cell morphogenesis, 1 1 0 0 4 16 0 0 7 ENSG00000164404 chr5 132861181 132866884 - GDF9 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016]. 2661 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0070698, GO:0008083, GO:0005125, type I activin receptor binding, growth factor activity, cytokine activity, GO:2000870, GO:2000870, GO:0060395, GO:0030509, GO:0030308, GO:0010862, GO:0008284, GO:0007292, GO:0007179, GO:0001555, regulation of progesterone secretion, regulation of progesterone secretion, SMAD protein signal transduction, BMP signaling pathway, negative regulation of cell growth, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of cell population proliferation, female gamete generation, transforming growth factor beta receptor signaling pathway, oocyte growth, 61 64 85 48 87 79 65 61 57 ENSG00000164405 chr5 132866560 132868031 + UQCRQ protein_coding This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]. 27089 GO:0016021, GO:0005750, GO:0005743, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex III, mitochondrial inner membrane, mitochondrion, GO:0008121, ubiquinol-cytochrome-c reductase activity, GO:0030901, GO:0021860, GO:0021854, GO:0021794, GO:0021766, GO:0021680, GO:0021548, GO:0021539, GO:0006122, GO:0006122, midbrain development, pyramidal neuron development, hypothalamus development, thalamus development, hippocampus development, cerebellar Purkinje cell layer development, pons development, subthalamus development, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, 127 113 129 81 135 117 96 102 101 ENSG00000164406 chr5 132872322 132875046 + LEAP2 protein_coding This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]. 116842 GO:0005576, extracellular region, GO:0042742, GO:0019730, defense response to bacterium, antimicrobial humoral response, 7 7 6 12 10 8 6 6 0 ENSG00000164411 chr6 87282978 87329278 - GJB7 protein_coding Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]. 375519 GO:0016021, GO:0005922, integral component of membrane, connexin complex, GO:0005243, GO:0005243, gap junction channel activity, gap junction channel activity, GO:0055085, GO:0007267, transmembrane transport, cell-cell signaling, 10 6 17 7 7 3 0 5 1 ENSG00000164414 chr6 87470623 87512336 + SLC35A1 protein_coding The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]. 10559 GO:0030173, GO:0016021, GO:0005887, GO:0000139, integral component of Golgi membrane, integral component of membrane, integral component of plasma membrane, Golgi membrane, GO:0015297, GO:0005515, GO:0005459, GO:0005456, GO:0005456, antiporter activity, protein binding, UDP-galactose transmembrane transporter activity, CMP-N-acetylneuraminate transmembrane transporter activity, CMP-N-acetylneuraminate transmembrane transporter activity, GO:0072334, GO:0015782, GO:0008643, GO:0006464, GO:0005975, UDP-galactose transmembrane transport, CMP-N-acetylneuraminate transmembrane transport, carbohydrate transport, cellular protein modification process, carbohydrate metabolic process, 33 36 40 21 30 22 17 27 48 ENSG00000164418 chr6 101181257 102070083 + GRIK2 protein_coding Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]. 2898 GO:0098978, GO:0098686, GO:0045211, GO:0043204, GO:0043195, GO:0042734, GO:0032983, GO:0032839, GO:0014069, GO:0005887, GO:0005886, GO:0005886, glutamatergic synapse, hippocampal mossy fiber to CA3 synapse, postsynaptic membrane, perikaryon, terminal bouton, presynaptic membrane, kainate selective glutamate receptor complex, dendrite cytoplasm, postsynaptic density, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1904315, GO:0099507, GO:0042802, GO:0038023, GO:0031625, GO:0031624, GO:0030165, GO:0015277, GO:0015277, GO:0015276, GO:0008066, GO:0005234, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, ligand-gated ion channel activity involved in regulation of presynaptic membrane potential, identical protein binding, signaling receptor activity, ubiquitin protein ligase binding, ubiquitin conjugating enzyme binding, PDZ domain binding, kainate selective glutamate receptor activity, kainate selective glutamate receptor activity, ligand-gated ion channel activity, glutamate receptor activity, extracellularly glutamate-gated ion channel activity, GO:0120169, GO:0099505, GO:0060080, GO:0060079, GO:0051967, GO:0051402, GO:0050806, GO:0050804, GO:0050804, GO:0048172, GO:0048169, GO:0046328, GO:0043525, GO:0043524, GO:0043113, GO:0035249, GO:0035235, GO:0034220, GO:0019228, GO:0007268, GO:0007215, GO:0006874, GO:0001662, detection of cold stimulus involved in thermoception, regulation of presynaptic membrane potential, inhibitory postsynaptic potential, excitatory postsynaptic potential, negative regulation of synaptic transmission, glutamatergic, neuron apoptotic process, positive regulation of synaptic transmission, modulation of chemical synaptic transmission, modulation of chemical synaptic transmission, regulation of short-term neuronal synaptic plasticity, regulation of long-term neuronal synaptic plasticity, regulation of JNK cascade, positive regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, receptor clustering, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, neuronal action potential, chemical synaptic transmission, glutamate receptor signaling pathway, cellular calcium ion homeostasis, behavioral fear response, 0 0 0 0 0 0 0 0 0 ENSG00000164430 chr6 73413515 73452276 - CGAS protein_coding 115004 GO:0035861, GO:0035861, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005634, GO:0005634, site of double-strand break, site of double-strand break, plasma membrane, cytosol, cytosol, cytosol, nucleus, nucleus, GO:0061501, GO:0061501, GO:0061501, GO:0046872, GO:0005546, GO:0005525, GO:0005524, GO:0005515, GO:0003690, GO:0003690, GO:0003682, GO:0003682, GO:0003677, cyclic-GMP-AMP synthase activity, cyclic-GMP-AMP synthase activity, cyclic-GMP-AMP synthase activity, metal ion binding, phosphatidylinositol-4,5-bisphosphate binding, GTP binding, ATP binding, protein binding, double-stranded DNA binding, double-stranded DNA binding, chromatin binding, chromatin binding, DNA binding, GO:2000774, GO:2000042, GO:2000042, GO:0071360, GO:0071360, GO:0051607, GO:0050863, GO:0045087, GO:0043950, GO:0043950, GO:0038001, GO:0038001, GO:0032481, GO:0032481, GO:0032481, GO:0016032, GO:0010753, GO:0010753, GO:0008340, GO:0006974, GO:0006974, GO:0006281, GO:0002637, GO:0002230, GO:0002230, GO:0002230, GO:0002218, GO:0002218, GO:0002218, positive regulation of cellular senescence, negative regulation of double-strand break repair via homologous recombination, negative regulation of double-strand break repair via homologous recombination, cellular response to exogenous dsRNA, cellular response to exogenous dsRNA, defense response to virus, regulation of T cell activation, innate immune response, positive regulation of cAMP-mediated signaling, positive regulation of cAMP-mediated signaling, paracrine signaling, paracrine signaling, positive regulation of type I interferon production, positive regulation of type I interferon production, positive regulation of type I interferon production, viral process, positive regulation of cGMP-mediated signaling, positive regulation of cGMP-mediated signaling, determination of adult lifespan, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, DNA repair, regulation of immunoglobulin production, positive regulation of defense response to virus by host, positive regulation of defense response to virus by host, positive regulation of defense response to virus by host, activation of innate immune response, activation of innate immune response, activation of innate immune response, 46 23 165 73 39 139 69 53 100 ENSG00000164434 chr6 122779475 122784074 + FABP7 protein_coding The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]. 2173 GO:0071944, GO:0043025, GO:0042995, GO:0005911, GO:0005829, GO:0005634, cell periphery, neuronal cell body, cell projection, cell-cell junction, cytosol, nucleus, GO:0008289, GO:0005515, lipid binding, protein binding, GO:0060134, GO:0050673, GO:0022008, GO:0021846, GO:0019433, GO:0008285, GO:0007399, prepulse inhibition, epithelial cell proliferation, neurogenesis, cell proliferation in forebrain, triglyceride catabolic process, negative regulation of cell population proliferation, nervous system development, 0 0 0 0 0 0 0 0 0 ENSG00000164438 chr5 171309284 171312134 + TLX3 protein_coding The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 2015]. 30012 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048665, GO:0048513, GO:0045944, GO:0045665, GO:0007585, GO:0007417, GO:0006357, GO:0002087, GO:0001764, neuron fate specification, animal organ development, positive regulation of transcription by RNA polymerase II, negative regulation of neuron differentiation, respiratory gaseous exchange by respiratory system, central nervous system development, regulation of transcription by RNA polymerase II, regulation of respiratory gaseous exchange by nervous system process, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000164440 chr6 139240061 139292139 - TXLNB protein_coding 167838 GO:0005737, cytoplasm, GO:0019905, GO:0005515, syntaxin binding, protein binding, 18 38 13 9 50 7 28 28 6 ENSG00000164442 chr6 139371807 139374620 - CITED2 protein_coding The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 10370 GO:0032991, GO:0005654, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, nucleoplasm, nucleus, nucleus, chromatin, GO:0050693, GO:0035035, GO:0019904, GO:0005515, GO:0003714, GO:0003714, GO:0003713, GO:0003713, GO:0003682, LBD domain binding, histone acetyltransferase binding, protein domain specific binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, chromatin binding, GO:2000020, GO:1900164, GO:0070986, GO:0061428, GO:0060972, GO:0060971, GO:0060412, GO:0048536, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0045787, GO:0043627, GO:0043066, GO:0035802, GO:0035360, GO:0034405, GO:0030511, GO:0030336, GO:0030154, GO:0022409, GO:0010629, GO:0010628, GO:0008283, GO:0007530, GO:0007530, GO:0007507, GO:0007507, GO:0007368, GO:0003156, GO:0003151, GO:0001889, GO:0001666, GO:0001666, GO:0000122, positive regulation of male gonad development, nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry, left/right axis specification, negative regulation of transcription from RNA polymerase II promoter in response to hypoxia, left/right pattern formation, embryonic heart tube left/right pattern formation, ventricular septum morphogenesis, spleen development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, response to estrogen, negative regulation of apoptotic process, adrenal cortex formation, positive regulation of peroxisome proliferator activated receptor signaling pathway, response to fluid shear stress, positive regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell migration, cell differentiation, positive regulation of cell-cell adhesion, negative regulation of gene expression, positive regulation of gene expression, cell population proliferation, sex determination, sex determination, heart development, heart development, determination of left/right symmetry, regulation of animal organ formation, outflow tract morphogenesis, liver development, response to hypoxia, response to hypoxia, negative regulation of transcription by RNA polymerase II, 114 87 227 715 1331 1680 392 492 803 ENSG00000164451 chr6 116529013 116558868 + CALHM4 protein_coding 221301 GO:0005887, integral component of plasma membrane, GO:0005261, cation channel activity, GO:0098655, cation transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000164458 chr6 166157656 166168700 - TBXT protein_coding The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]. 6862 GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0003700, GO:0001102, GO:0001085, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090009, GO:0071300, GO:0061371, GO:0060395, GO:0060349, GO:0048706, GO:0043433, GO:0036342, GO:0023019, GO:0014028, GO:0008595, GO:0008284, GO:0007509, GO:0007498, GO:0007341, GO:0007165, GO:0006357, GO:0003257, GO:0003007, GO:0003007, GO:0001843, GO:0001839, GO:0001756, GO:0001708, GO:0001707, GO:0001570, GO:0000122, primitive streak formation, cellular response to retinoic acid, determination of heart left/right asymmetry, SMAD protein signal transduction, bone morphogenesis, embryonic skeletal system development, negative regulation of DNA-binding transcription factor activity, post-anal tail morphogenesis, signal transduction involved in regulation of gene expression, notochord formation, anterior/posterior axis specification, embryo, positive regulation of cell population proliferation, mesoderm migration involved in gastrulation, mesoderm development, penetration of zona pellucida, signal transduction, regulation of transcription by RNA polymerase II, positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation, heart morphogenesis, heart morphogenesis, neural tube closure, neural plate morphogenesis, somitogenesis, cell fate specification, mesoderm formation, vasculogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000164463 chr5 173056352 173139284 + CREBRF protein_coding 153222 GO:0016604, GO:0005654, GO:0005654, GO:0005634, nuclear body, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0001228, GO:0000981, GO:0000977, GO:0000977, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1902213, GO:1900170, GO:0045944, GO:0042711, GO:0030968, GO:0006357, positive regulation of prolactin signaling pathway, negative regulation of glucocorticoid mediated signaling pathway, positive regulation of transcription by RNA polymerase II, maternal behavior, endoplasmic reticulum unfolded protein response, regulation of transcription by RNA polymerase II, 2337 2768 2487 2514 3747 3021 2320 2612 2289 ENSG00000164465 chr6 117453817 117569858 + DCBLD1 protein_coding 285761 GO:0016021, integral component of membrane, 14 9 16 11 25 42 13 7 16 ENSG00000164466 chr5 175477062 175529742 + SFXN1 protein_coding 94081 GO:0031305, GO:0031305, GO:0005739, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrion, GO:0042945, GO:0022889, GO:0022857, GO:0015194, GO:0005515, D-serine transmembrane transporter activity, serine transmembrane transporter activity, transmembrane transporter activity, L-serine transmembrane transporter activity, protein binding, GO:1990542, GO:0140300, GO:0140300, GO:0042942, GO:0030218, GO:0015825, GO:0006826, GO:0006730, mitochondrial transmembrane transport, serine import into mitochondrion, serine import into mitochondrion, D-serine transport, erythrocyte differentiation, L-serine transport, iron ion transport, one-carbon metabolic process, 46 55 87 139 24 95 66 19 83 ENSG00000164483 chr6 130144315 130365425 - SAMD3 protein_coding 154075 GO:0005515, protein binding, 30 22 51 102 38 199 102 47 200 ENSG00000164484 chr6 130365734 130443063 + TMEM200A protein_coding 114801 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 1 0 3 12 3 6 0 ENSG00000164485 chr6 137143820 137173648 - IL22RA2 protein_coding This gene encodes a member of the class II cytokine receptor family. The encoded soluble protein specifically binds to and inhibits interleukin 22 activity by blocking the interaction of interleukin 22 with its cell surface receptor. The encoded protein may be important in the regulation of inflammatory response, and has been implicated in the regulation of tumorigenesis in the colon. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]. 116379 GO:0016021, GO:0005886, GO:0005829, GO:0005615, GO:0005576, integral component of membrane, plasma membrane, cytosol, extracellular space, extracellular region, GO:0042018, GO:0042018, GO:0042017, GO:0004896, interleukin-22 receptor activity, interleukin-22 receptor activity, interleukin-22 binding, cytokine receptor activity, GO:0050728, GO:0042509, GO:0019221, GO:0019221, negative regulation of inflammatory response, regulation of tyrosine phosphorylation of STAT protein, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, 0 1 0 9 25 65 26 15 18 ENSG00000164488 chr6 168292830 168319754 - DACT2 protein_coding 168002 GO:0005737, cytoplasm, GO:0070097, GO:0051018, GO:0008134, GO:0008013, GO:0005080, delta-catenin binding, protein kinase A binding, transcription factor binding, beta-catenin binding, protein kinase C binding, GO:1900108, GO:1900108, GO:0072061, GO:0043588, GO:0007162, GO:0003382, GO:0002244, negative regulation of nodal signaling pathway, negative regulation of nodal signaling pathway, inner medullary collecting duct development, skin development, negative regulation of cell adhesion, epithelial cell morphogenesis, hematopoietic progenitor cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000164494 chr6 107152557 107459564 - PDSS2 protein_coding The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]. 57107 GO:1990234, GO:1990234, GO:0005829, GO:0005759, transferase complex, transferase complex, cytosol, mitochondrial matrix, GO:0097269, GO:0050347, GO:0046982, GO:0005515, GO:0004659, GO:0000010, all-trans-decaprenyl-diphosphate synthase activity, trans-octaprenyltranstransferase activity, protein heterodimerization activity, protein binding, prenyltransferase activity, trans-hexaprenyltranstransferase activity, GO:0050878, GO:0021549, GO:0008299, GO:0008299, GO:0006744, GO:0006744, GO:0006744, GO:0006744, regulation of body fluid levels, cerebellum development, isoprenoid biosynthetic process, isoprenoid biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, 20 19 17 37 15 25 19 24 24 ENSG00000164500 chr7 50096036 50159830 + SPATA48 protein_coding 100130988 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000164506 chr6 147204425 147390476 + STXBP5 protein_coding Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 134957 GO:0098888, GO:0031201, GO:0030659, GO:0008021, GO:0005892, GO:0005886, GO:0005829, GO:0005737, extrinsic component of presynaptic membrane, SNARE complex, cytoplasmic vesicle membrane, synaptic vesicle, acetylcholine-gated channel complex, plasma membrane, cytosol, cytoplasm, GO:0045159, GO:0031267, GO:0019905, GO:0017075, GO:0005096, myosin II binding, small GTPase binding, syntaxin binding, syntaxin-1 binding, GTPase activator activity, GO:0050708, GO:0045921, GO:0043547, GO:0017157, GO:0017157, GO:0015031, GO:0006887, regulation of protein secretion, positive regulation of exocytosis, positive regulation of GTPase activity, regulation of exocytosis, regulation of exocytosis, protein transport, exocytosis, 1600 1592 2064 818 1171 1215 1169 1032 1024 ENSG00000164508 chr6 25726132 25726527 - HIST1H2AA protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]. 221613 GO:0070062, GO:0005634, GO:0000786, GO:0000785, GO:0000781, extracellular exosome, nucleus, nucleosome, chromatin, chromosome, telomeric region, GO:0046982, GO:0003677, protein heterodimerization activity, DNA binding, GO:0006342, chromatin silencing, 0 0 0 0 0 0 0 0 0 ENSG00000164509 chr5 55851379 55922853 + IL31RA protein_coding The protein encoded by this gene belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]. 133396 GO:0043235, GO:0042734, GO:0030424, GO:0016021, GO:0009897, GO:0005886, receptor complex, presynaptic membrane, axon, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0051916, GO:0019955, GO:0019955, GO:0019901, GO:0004896, GO:0004896, GO:0003713, granulocyte colony-stimulating factor binding, cytokine binding, cytokine binding, protein kinase binding, cytokine receptor activity, cytokine receptor activity, transcription coactivator activity, GO:0098542, GO:0045893, GO:0043066, GO:0043031, GO:0042592, GO:0042531, GO:0035745, GO:0030225, GO:0030224, GO:0019221, GO:0019221, GO:0008284, GO:0007259, GO:0007169, GO:0006952, GO:0002438, GO:0002067, GO:0000165, defense response to other organism, positive regulation of transcription, DNA-templated, negative regulation of apoptotic process, negative regulation of macrophage activation, homeostatic process, positive regulation of tyrosine phosphorylation of STAT protein, T-helper 2 cell cytokine production, macrophage differentiation, monocyte differentiation, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, receptor signaling pathway via JAK-STAT, transmembrane receptor protein tyrosine kinase signaling pathway, defense response, acute inflammatory response to antigenic stimulus, glandular epithelial cell differentiation, MAPK cascade, 0 0 2 0 0 6 0 1 0 ENSG00000164512 chr5 56099678 56233359 - ANKRD55 protein_coding 79722 GO:0005515, protein binding, 9 11 17 26 8 16 17 6 13 ENSG00000164520 chr6 149883375 149898102 - RAET1E protein_coding This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]. 135250 GO:0016021, GO:0009897, GO:0005886, GO:0005886, GO:0005615, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0046703, GO:0005515, natural killer cell lectin-like receptor binding, protein binding, GO:0050776, GO:0045954, GO:0042267, GO:0006955, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, natural killer cell mediated cytotoxicity, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000164530 chr6 36948263 36964837 + PI16 protein_coding 221476 GO:0005615, extracellular space, GO:0030414, GO:0005515, peptidase inhibitor activity, protein binding, GO:0061052, GO:0010466, negative regulation of cell growth involved in cardiac muscle cell development, negative regulation of peptidase activity, 3 10 1 14 5 5 12 11 1 ENSG00000164532 chr7 35202430 35254147 - TBX20 protein_coding This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 57057 GO:0005737, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0001228, GO:0001102, GO:0001085, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060577, GO:0060413, GO:0060045, GO:0055008, GO:0048370, GO:0045892, GO:0036306, GO:0035922, GO:0021524, GO:0010991, GO:0009953, GO:0008283, GO:0008015, GO:0006936, GO:0006357, GO:0003344, GO:0003279, GO:0003272, GO:0003215, GO:0003207, GO:0003203, GO:0003193, GO:0003180, GO:0003175, GO:0003148, GO:0003143, GO:0001947, GO:0001947, GO:0001764, GO:0001708, GO:0001706, GO:0001570, GO:0001569, GO:0000122, pulmonary vein morphogenesis, atrial septum morphogenesis, positive regulation of cardiac muscle cell proliferation, cardiac muscle tissue morphogenesis, lateral mesoderm formation, negative regulation of transcription, DNA-templated, embryonic heart tube elongation, foramen ovale closure, visceral motor neuron differentiation, negative regulation of SMAD protein complex assembly, dorsal/ventral pattern formation, cell population proliferation, blood circulation, muscle contraction, regulation of transcription by RNA polymerase II, pericardium morphogenesis, cardiac septum development, endocardial cushion formation, cardiac right ventricle morphogenesis, cardiac chamber formation, endocardial cushion morphogenesis, pulmonary valve formation, aortic valve morphogenesis, tricuspid valve development, outflow tract septum morphogenesis, embryonic heart tube morphogenesis, heart looping, heart looping, neuron migration, cell fate specification, endoderm formation, vasculogenesis, branching involved in blood vessel morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 1 0 0 0 0 0 ENSG00000164535 chr7 6409126 6484190 - DAGLB protein_coding 221955 GO:0045211, GO:0016021, GO:0005886, GO:0005886, GO:0005765, GO:0005654, postsynaptic membrane, integral component of membrane, plasma membrane, plasma membrane, lysosomal membrane, nucleoplasm, GO:0046872, GO:0016298, GO:0005515, GO:0004806, metal ion binding, lipase activity, protein binding, triglyceride lipase activity, GO:0098921, GO:0071926, GO:0050727, GO:0042136, GO:0022008, GO:0019369, GO:0016042, GO:0010898, GO:0007405, GO:0007216, GO:0001516, retrograde trans-synaptic signaling by endocannabinoid, endocannabinoid signaling pathway, regulation of inflammatory response, neurotransmitter biosynthetic process, neurogenesis, arachidonic acid metabolic process, lipid catabolic process, positive regulation of triglyceride catabolic process, neuroblast proliferation, G protein-coupled glutamate receptor signaling pathway, prostaglandin biosynthetic process, 202 265 310 264 391 261 249 252 196 ENSG00000164542 chr7 36324221 36390125 - KIAA0895 protein_coding 23366 22 10 28 10 26 23 15 11 7 ENSG00000164543 chr7 43582758 43650713 + STK17A protein_coding This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]. 9263 GO:0016607, GO:0005886, GO:0005634, GO:0005634, nuclear speck, plasma membrane, nucleus, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000377, GO:2000271, GO:0043065, GO:0043065, GO:0035556, GO:0035556, GO:0006915, GO:0006468, regulation of reactive oxygen species metabolic process, positive regulation of fibroblast apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, intracellular signal transduction, intracellular signal transduction, apoptotic process, protein phosphorylation, 600 496 908 615 867 828 703 821 679 ENSG00000164548 chr7 23504780 23532041 - TRA2A protein_coding This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]. 29896 GO:0043231, GO:0005730, GO:0005681, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, nucleolus, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0048026, GO:0000398, positive regulation of mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1454 1432 1933 2952 3067 3784 2826 2174 2660 ENSG00000164556 chr7 38685346 38687037 - FAM183BP processed_pseudogene 340286 GO:0097546, GO:0005856, GO:0005737, ciliary base, cytoskeleton, cytoplasm, 0 3 0 2 6 0 5 3 1 ENSG00000164574 chr5 154190730 154420984 + GALNT10 protein_coding This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010]. 55568 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, GO:0016266, GO:0006493, O-glycan processing, O-glycan processing, protein O-linked glycosylation, 352 373 581 191 281 473 303 246 383 ENSG00000164576 chr5 154445957 154461054 + SAP30L protein_coding 79685 GO:0005730, GO:0005654, GO:0000118, nucleolus, nucleoplasm, histone deacetylase complex, GO:0044378, GO:0042393, GO:0031491, GO:0010314, GO:0008270, GO:0005515, GO:0003712, GO:0003677, non-sequence-specific DNA binding, bending, histone binding, nucleosome binding, phosphatidylinositol-5-phosphate binding, zinc ion binding, protein binding, transcription coregulator activity, DNA binding, GO:0006355, regulation of transcription, DNA-templated, 164 169 209 105 190 179 165 198 143 ENSG00000164587 chr5 150442635 150449756 - RPS14 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6208 GO:0070062, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0014069, GO:0014069, GO:0005925, GO:0005829, GO:0005730, GO:0005654, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, postsynaptic density, postsynaptic density, focal adhesion, cytosol, nucleolus, nucleoplasm, GO:0070181, GO:0048027, GO:0048027, GO:0045182, GO:0005515, GO:0003735, GO:0003723, GO:0003723, small ribosomal subunit rRNA binding, mRNA 5'-UTR binding, mRNA 5'-UTR binding, translation regulator activity, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0030490, GO:0030218, GO:0019083, GO:0006614, GO:0006417, GO:0006413, GO:0006412, GO:0006412, GO:0006412, GO:0006364, GO:0000462, GO:0000184, GO:0000122, GO:0000028, GO:0000028, GO:0000028, maturation of SSU-rRNA, erythrocyte differentiation, viral transcription, SRP-dependent cotranslational protein targeting to membrane, regulation of translation, translational initiation, translation, translation, translation, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, negative regulation of transcription by RNA polymerase II, ribosomal small subunit assembly, ribosomal small subunit assembly, ribosomal small subunit assembly, 1012 742 1498 2380 1173 2950 1589 1177 2045 ENSG00000164588 chr5 45254950 45696498 - HCN1 protein_coding The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]. 348980 GO:0098855, GO:0030425, GO:0030424, GO:0005887, GO:0005887, GO:0005886, GO:0005886, HCN channel complex, dendrite, axon, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0030552, GO:0030552, GO:0022843, GO:0005515, GO:0005267, GO:0005249, GO:0005249, GO:0005248, GO:0005222, identical protein binding, cAMP binding, cAMP binding, voltage-gated cation channel activity, protein binding, potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated sodium channel activity, intracellular cAMP-activated cation channel activity, GO:0071805, GO:0071805, GO:0071320, GO:0071320, GO:0071320, GO:0051289, GO:0046549, GO:0045176, GO:0042391, GO:0035725, GO:0034765, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to cAMP, cellular response to cAMP, cellular response to cAMP, protein homotetramerization, retinal cone cell development, apical protein localization, regulation of membrane potential, sodium ion transmembrane transport, regulation of ion transmembrane transport, 0 0 0 2 0 0 0 0 0 ENSG00000164591 chr5 150660874 150679365 + MYOZ3 protein_coding The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]. 91977 GO:0030018, GO:0015629, Z disc, actin cytoskeleton, GO:0051373, GO:0031433, GO:0005515, GO:0003779, FATZ binding, telethonin binding, protein binding, actin binding, 2 0 0 0 1 2 0 0 0 ENSG00000164597 chr7 107201555 107564514 - COG5 protein_coding The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]. 10466 GO:0032588, GO:0017119, GO:0017119, GO:0017119, GO:0016020, GO:0005829, GO:0005794, GO:0005654, GO:0000139, trans-Golgi network membrane, Golgi transport complex, Golgi transport complex, Golgi transport complex, membrane, cytosol, Golgi apparatus, nucleoplasm, Golgi membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0048219, GO:0015031, GO:0006891, GO:0006891, GO:0006888, inter-Golgi cisterna vesicle-mediated transport, protein transport, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 1447 1511 1789 1419 1490 1719 1274 975 1102 ENSG00000164600 chr7 31337461 31340894 - NEUROD6 protein_coding This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012]. 63974 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046983, GO:0001228, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030182, GO:0021542, GO:0006357, positive regulation of transcription by RNA polymerase II, neuron differentiation, dentate gyrus development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000164603 chr7 112819147 112939916 - BMT2 protein_coding 154743 GO:1990130, GO:0140007, GO:0005730, GATOR1 complex, KICSTOR complex, nucleolus, GO:1904047, GO:0016433, S-adenosyl-L-methionine binding, rRNA (adenine) methyltransferase activity, GO:1904262, GO:0034198, GO:0031167, negative regulation of TORC1 signaling, cellular response to amino acid starvation, rRNA methylation, 232 262 227 211 401 370 249 362 286 ENSG00000164604 chr7 113078331 113087778 - GPR85 protein_coding Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008]. 54329 GO:0016021, GO:0005886, GO:0005886, GO:0005783, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0005515, GO:0004930, GO:0004930, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0007165, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000164609 chr5 160401641 160421711 - SLU7 protein_coding Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008]. 10569 GO:0071013, GO:0043231, GO:0030532, GO:0016607, GO:0016020, GO:0005829, GO:0005737, GO:0005681, GO:0005681, GO:0005654, GO:0005654, GO:0005634, catalytic step 2 spliceosome, intracellular membrane-bounded organelle, small nuclear ribonucleoprotein complex, nuclear speck, membrane, cytosol, cytoplasm, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0030628, GO:0008270, GO:0005515, GO:0000386, pre-mRNA 3'-splice site binding, zinc ion binding, protein binding, second spliceosomal transesterification activity, GO:0034605, GO:0031124, GO:0008380, GO:0006886, GO:0006406, GO:0006405, GO:0000398, GO:0000398, GO:0000389, GO:0000380, GO:0000375, cellular response to heat, mRNA 3'-end processing, RNA splicing, intracellular protein transport, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA 3'-splice site recognition, alternative mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 2638 3175 3173 1517 2157 1916 1540 1469 1468 ENSG00000164610 chr7 33094797 33109401 - RP9 protein_coding The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]. 6100 GO:0005785, GO:0005634, signal recognition particle receptor complex, nucleus, GO:0046872, GO:0005515, GO:0003723, metal ion binding, protein binding, RNA binding, GO:0050890, GO:0008380, cognition, RNA splicing, 5 10 12 22 15 14 8 3 4 ENSG00000164611 chr5 160421822 160428744 + PTTG1 protein_coding The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]. 9232 GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0017124, GO:0005515, GO:0004869, SH3 domain binding, protein binding, cysteine-type endopeptidase inhibitor activity, GO:2000816, GO:0051301, GO:0051276, GO:0045143, GO:0031145, GO:0010951, GO:0007283, GO:0006511, GO:0006281, negative regulation of mitotic sister chromatid separation, cell division, chromosome organization, homologous chromosome segregation, anaphase-promoting complex-dependent catabolic process, negative regulation of endopeptidase activity, spermatogenesis, ubiquitin-dependent protein catabolic process, DNA repair, 3 8 15 16 8 32 25 5 15 ENSG00000164615 chr5 134738501 134752160 + CAMLG protein_coding The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]. 819 GO:0016021, GO:0016020, GO:0005783, GO:0005737, integral component of membrane, membrane, endoplasmic reticulum, cytoplasm, GO:0050839, GO:0031625, GO:0005515, cell adhesion molecule binding, ubiquitin protein ligase binding, protein binding, GO:0050821, GO:0032435, GO:0031397, GO:0016032, GO:0007173, GO:0007165, GO:0006952, GO:0001881, protein stabilization, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, viral process, epidermal growth factor receptor signaling pathway, signal transduction, defense response, receptor recycling, 289 234 240 211 325 259 201 280 194 ENSG00000164616 chr5 135930317 135951591 + FBXL21 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000164619 chr7 33904308 34156356 + BMPER protein_coding This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]. 168667 GO:0031012, GO:0005615, GO:0005615, extracellular matrix, extracellular space, extracellular space, GO:1903672, GO:0070374, GO:0060393, GO:0048839, GO:0045765, GO:0042118, GO:0030514, GO:0010594, GO:0002043, GO:0001657, GO:0001568, positive regulation of sprouting angiogenesis, positive regulation of ERK1 and ERK2 cascade, regulation of pathway-restricted SMAD protein phosphorylation, inner ear development, regulation of angiogenesis, endothelial cell activation, negative regulation of BMP signaling pathway, regulation of endothelial cell migration, blood vessel endothelial cell proliferation involved in sprouting angiogenesis, ureteric bud development, blood vessel development, 0 0 0 0 0 0 0 0 0 ENSG00000164620 chr5 141636950 141641077 + RELL2 protein_coding 285613 GO:0016021, GO:0005886, GO:0005604, integral component of membrane, plasma membrane, basement membrane, GO:0005518, GO:0005515, collagen binding, protein binding, GO:1900745, GO:1900745, GO:0010811, positive regulation of p38MAPK cascade, positive regulation of p38MAPK cascade, positive regulation of cell-substrate adhesion, 191 232 239 273 356 447 339 252 319 ENSG00000164621 chr5 136129507 136134890 - SMAD5-AS1 antisense 9597 GO:0007165, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000164626 chr6 39188973 39229450 - KCNK5 protein_coding This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]. 8645 GO:0005887, integral component of plasma membrane, GO:0022841, GO:0005515, GO:0005267, GO:0005249, potassium ion leak channel activity, protein binding, potassium channel activity, voltage-gated potassium channel activity, GO:1990573, GO:0097623, GO:0071805, GO:0060075, GO:0034765, GO:0030322, GO:0007588, GO:0006813, potassium ion import across plasma membrane, potassium ion export across plasma membrane, potassium ion transmembrane transport, regulation of resting membrane potential, regulation of ion transmembrane transport, stabilization of membrane potential, excretion, potassium ion transport, 3 7 32 8 1 7 5 2 5 ENSG00000164627 chr6 39329990 39725405 - KIF6 protein_coding This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [provided by RefSeq, May 2017]. 221458 GO:0005874, GO:0005871, GO:0005737, GO:0001673, microtubule, kinesin complex, cytoplasm, male germ cell nucleus, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0007018, microtubule-based movement, 0 0 0 0 0 0 0 0 0 ENSG00000164631 chr7 6688433 6706923 - ZNF12 protein_coding This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 7559 GO:0005813, GO:0005654, GO:0005634, GO:0005634, centrosome, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 763 621 819 279 311 361 367 302 327 ENSG00000164638 chr7 5274369 5306870 + SLC29A4 protein_coding This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 222962 GO:0098793, GO:0016324, GO:0016323, GO:0016021, GO:0005886, GO:0005886, GO:0005886, presynapse, apical plasma membrane, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0042910, GO:0042910, GO:0019534, GO:0015562, GO:0015101, GO:0008504, GO:0008504, GO:0008504, GO:0008504, GO:0008324, GO:0005342, GO:0005337, GO:0005326, GO:0005326, GO:0005326, xenobiotic transmembrane transporter activity, xenobiotic transmembrane transporter activity, toxin transmembrane transporter activity, efflux transmembrane transporter activity, organic cation transmembrane transporter activity, monoamine transmembrane transporter activity, monoamine transmembrane transporter activity, monoamine transmembrane transporter activity, monoamine transmembrane transporter activity, cation transmembrane transporter activity, organic acid transmembrane transporter activity, nucleoside transmembrane transporter activity, neurotransmitter transmembrane transporter activity, neurotransmitter transmembrane transporter activity, neurotransmitter transmembrane transporter activity, GO:1903825, GO:1901998, GO:1901642, GO:0150104, GO:0140115, GO:0098655, GO:0090494, GO:0090494, GO:0051625, GO:0051620, GO:0051620, GO:0051615, GO:0051615, GO:0051610, GO:0051610, GO:0042908, GO:0042908, GO:0042908, GO:0015844, GO:0015695, GO:0006836, GO:0006836, GO:0001692, organic acid transmembrane transport, toxin transport, nucleoside transmembrane transport, transport across blood-brain barrier, export across plasma membrane, cation transmembrane transport, dopamine uptake, dopamine uptake, epinephrine uptake, norepinephrine uptake, norepinephrine uptake, histamine uptake, histamine uptake, serotonin uptake, serotonin uptake, xenobiotic transport, xenobiotic transport, xenobiotic transport, monoamine transport, organic cation transport, neurotransmitter transport, neurotransmitter transport, histamine metabolic process, 6 2 3 5 1 0 3 1 0 ENSG00000164645 chr7 88794106 88795721 - TEX47 protein_coding 219557 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000164647 chr7 90154375 90164829 + STEAP1 protein_coding This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008]. 26872 GO:0016020, GO:0010008, GO:0005911, GO:0005887, GO:0005886, GO:0005768, membrane, endosome membrane, cell-cell junction, integral component of plasma membrane, plasma membrane, endosome, GO:0046872, GO:0016491, GO:0015267, GO:0005215, metal ion binding, oxidoreductase activity, channel activity, transporter activity, GO:0055114, GO:0055085, GO:0055072, GO:0006811, oxidation-reduction process, transmembrane transport, iron ion homeostasis, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000164649 chr7 21900900 21946084 - CDCA7L protein_coding 55536 GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0001650, cytosol, nucleolus, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0005515, protein binding, GO:0008284, GO:0006355, positive regulation of cell population proliferation, regulation of transcription, DNA-templated, 14 46 32 30 63 28 27 32 33 ENSG00000164651 chr7 20782283 20786886 - SP8 protein_coding The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 221833 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030326, GO:0009954, GO:0009953, GO:0006357, embryonic limb morphogenesis, proximal/distal pattern formation, dorsal/ventral pattern formation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000164654 chr7 7566872 7608929 + MIOS protein_coding 54468 GO:0061700, GO:0030054, GO:0005829, GO:0005765, GO:0005765, GO:0005737, GO:0005654, GATOR2 complex, cell junction, cytosol, lysosomal membrane, lysosomal membrane, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0034629, GO:0034198, GO:0034198, GO:0032008, GO:0032008, cellular protein-containing complex localization, cellular response to amino acid starvation, cellular response to amino acid starvation, positive regulation of TOR signaling, positive regulation of TOR signaling, 86 66 152 117 41 157 126 35 78 ENSG00000164659 chr7 86876906 87059699 - KIAA1324L protein_coding 222223 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0070700, BMP receptor binding, GO:0051961, GO:0045684, GO:0030513, GO:0030513, negative regulation of nervous system development, positive regulation of epidermis development, positive regulation of BMP signaling pathway, positive regulation of BMP signaling pathway, 12 10 11 10 12 18 9 11 22 ENSG00000164663 chr6 41789896 41895361 - USP49 protein_coding 25862 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0042393, GO:0008270, GO:0005515, GO:0004843, GO:0004197, histone binding, zinc ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0035616, GO:0016579, GO:0016579, GO:0006511, GO:0000398, histone H2B conserved C-terminal lysine deubiquitination, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, mRNA splicing, via spliceosome, 88 114 105 90 151 92 87 124 69 ENSG00000164669 chr7 65141032 65234216 + INTS4P1 transcribed_unprocessed_pseudogene 285905 7 0 0 4 0 0 3 0 0 ENSG00000164674 chr6 158650014 158764876 + SYTL3 protein_coding The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 94120 GO:0070382, GO:0019897, GO:0005886, exocytic vesicle, extrinsic component of plasma membrane, plasma membrane, GO:0042043, GO:0031267, GO:0005544, GO:0005515, neurexin family protein binding, small GTPase binding, calcium-dependent phospholipid binding, protein binding, GO:0006887, GO:0006886, exocytosis, intracellular protein transport, 398 660 875 281 648 574 381 535 491 ENSG00000164675 chr7 123452400 123535077 - IQUB protein_coding 154865 GO:0031514, GO:0001669, motile cilium, acrosomal vesicle, GO:0005515, protein binding, GO:0060271, GO:0007224, cilium assembly, smoothened signaling pathway, 0 1 1 0 0 0 2 0 0 ENSG00000164683 chr8 79764010 79767863 - HEY1 protein_coding This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 23462 GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046983, GO:0008134, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001212, GO:2000820, GO:2000678, GO:0072359, GO:0070168, GO:0061314, GO:0060842, GO:0060716, GO:0060412, GO:0060411, GO:0060347, GO:0060317, GO:0050767, GO:0045944, GO:0045893, GO:0045892, GO:0045746, GO:0045665, GO:0036304, GO:0035912, GO:0010628, GO:0009952, GO:0007219, GO:0007219, GO:0006357, GO:0003208, GO:0003203, GO:0003190, GO:0003184, GO:0001525, GO:0000122, GO:0000122, regulation of vasculogenesis, negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation, negative regulation of transcription regulatory region DNA binding, circulatory system development, negative regulation of biomineral tissue development, Notch signaling involved in heart development, arterial endothelial cell differentiation, labyrinthine layer blood vessel development, ventricular septum morphogenesis, cardiac septum morphogenesis, heart trabecula formation, cardiac epithelial to mesenchymal transition, regulation of neurogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of Notch signaling pathway, negative regulation of neuron differentiation, umbilical cord morphogenesis, dorsal aorta morphogenesis, positive regulation of gene expression, anterior/posterior pattern specification, Notch signaling pathway, Notch signaling pathway, regulation of transcription by RNA polymerase II, cardiac ventricle morphogenesis, endocardial cushion morphogenesis, atrioventricular valve formation, pulmonary valve morphogenesis, angiogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 77 24 23 1 12 8 9 12 3 ENSG00000164684 chr8 80628451 80874781 - ZNF704 protein_coding 619279 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 0 0 0 ENSG00000164687 chr8 81280363 81284777 + FABP5 protein_coding This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011]. 2171 GO:0070062, GO:0045202, GO:0035578, GO:0030667, GO:0014069, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005576, extracellular exosome, synapse, azurophil granule lumen, secretory granule membrane, postsynaptic density, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, extracellular region, GO:0042802, GO:0008289, GO:0005515, GO:0005504, GO:0005324, GO:0001972, identical protein binding, lipid binding, protein binding, fatty acid binding, long-chain fatty acid transporter activity, retinoic acid binding, GO:1990379, GO:0120162, GO:0099178, GO:0051930, GO:0043312, GO:0042593, GO:0035360, GO:0031392, GO:0019433, GO:0015909, GO:0010829, GO:0008544, GO:0006656, GO:0006629, GO:0006006, lipid transport across blood-brain barrier, positive regulation of cold-induced thermogenesis, regulation of retrograde trans-synaptic signaling by endocanabinoid, regulation of sensory perception of pain, neutrophil degranulation, glucose homeostasis, positive regulation of peroxisome proliferator activated receptor signaling pathway, regulation of prostaglandin biosynthetic process, triglyceride catabolic process, long-chain fatty acid transport, negative regulation of glucose transmembrane transport, epidermis development, phosphatidylcholine biosynthetic process, lipid metabolic process, glucose metabolic process, 9 4 8 30 12 17 5 2 3 ENSG00000164690 chr7 155799986 155812273 - SHH protein_coding This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]. 6469 GO:0062023, GO:0045121, GO:0009986, GO:0005886, GO:0005829, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, collagen-containing extracellular matrix, membrane raft, cell surface, plasma membrane, cytosol, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0043237, GO:0016015, GO:0016015, GO:0008270, GO:0008233, GO:0005539, GO:0005515, GO:0005509, GO:0005509, GO:0005113, GO:0005113, laminin-1 binding, morphogen activity, morphogen activity, zinc ion binding, peptidase activity, glycosaminoglycan binding, protein binding, calcium ion binding, calcium ion binding, patched binding, patched binding, GO:2001054, GO:2000729, GO:2000358, GO:2000357, GO:2000063, GO:2000062, GO:1905327, GO:1904339, GO:1900180, GO:1900175, GO:0097190, GO:0090370, GO:0090090, GO:0072205, GO:0072136, GO:0071542, GO:0071285, GO:0061189, GO:0061053, GO:0060916, GO:0060840, GO:0060783, GO:0060782, GO:0060769, GO:0060738, GO:0060685, GO:0060664, GO:0060662, GO:0060523, GO:0060516, GO:0060484, GO:0060463, GO:0060459, GO:0060458, GO:0060447, GO:0060445, GO:0060439, GO:0060428, GO:0060174, GO:0060070, GO:0060021, GO:0060020, GO:0051781, GO:0051155, GO:0048864, GO:0048859, GO:0048839, GO:0048754, GO:0048745, GO:0048714, GO:0048709, GO:0048706, GO:0048663, GO:0048645, GO:0048643, GO:0048617, GO:0048557, GO:0048538, GO:0048468, GO:0046639, GO:0046638, GO:0045944, GO:0045893, GO:0045880, GO:0045880, GO:0045596, GO:0045445, GO:0045109, GO:0045060, GO:0045059, GO:0043369, GO:0043066, GO:0043010, GO:0042733, GO:0042481, GO:0042475, GO:0042307, GO:0042130, GO:0042127, GO:0035116, GO:0035115, GO:0034504, GO:0034244, GO:0033092, GO:0033089, GO:0033077, GO:0032435, GO:0031069, GO:0031016, GO:0030902, GO:0030901, GO:0030900, GO:0030878, GO:0030850, GO:0030539, GO:0030336, GO:0030326, GO:0030324, GO:0030177, GO:0030162, GO:0030010, GO:0021978, GO:0021938, GO:0021930, GO:0021904, GO:0021794, GO:0021522, GO:0021513, GO:0016540, GO:0016539, GO:0014902, GO:0014858, GO:0014706, GO:0014003, GO:0010468, GO:0009953, GO:0009949, GO:0009880, GO:0008284, GO:0008284, GO:0008209, GO:0007596, GO:0007507, GO:0007442, GO:0007418, GO:0007417, GO:0007411, GO:0007405, GO:0007398, GO:0007389, GO:0007267, GO:0007228, GO:0007224, GO:0007224, GO:0007224, GO:0007224, GO:0006897, GO:0003140, GO:0002320, GO:0002076, GO:0002052, GO:0001947, GO:0001755, GO:0001708, GO:0001708, GO:0001658, GO:0001656, GO:0001570, GO:0001569, GO:0000122, negative regulation of mesenchymal cell apoptotic process, positive regulation of mesenchymal cell proliferation involved in ureter development, positive regulation of kidney smooth muscle cell differentiation, negative regulation of kidney smooth muscle cell differentiation, positive regulation of ureter smooth muscle cell differentiation, negative regulation of ureter smooth muscle cell differentiation, tracheoesophageal septum formation, negative regulation of dopaminergic neuron differentiation, regulation of protein localization to nucleus, regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry, apoptotic signaling pathway, negative regulation of cholesterol efflux, negative regulation of canonical Wnt signaling pathway, metanephric collecting duct development, metanephric mesenchymal cell proliferation involved in metanephros development, dopaminergic neuron differentiation, cellular response to lithium ion, positive regulation of sclerotome development, somite development, mesenchymal cell proliferation involved in lung development, artery development, mesenchymal smoothened signaling pathway involved in prostate gland development, regulation of mesenchymal cell proliferation involved in prostate gland development, positive regulation of epithelial cell proliferation involved in prostate gland development, epithelial-mesenchymal signaling involved in prostate gland development, regulation of prostatic bud formation, epithelial cell proliferation involved in salivary gland morphogenesis, salivary gland cavitation, prostate epithelial cord elongation, primary prostatic bud elongation, lung-associated mesenchyme development, lung lobe morphogenesis, left lung development, right lung development, bud outgrowth involved in lung branching, branching involved in salivary gland morphogenesis, trachea morphogenesis, lung epithelium development, limb bud formation, canonical Wnt signaling pathway, roof of mouth development, Bergmann glial cell differentiation, positive regulation of cell division, positive regulation of striated muscle cell differentiation, stem cell development, formation of anatomical boundary, inner ear development, branching morphogenesis of an epithelial tube, smooth muscle tissue development, positive regulation of oligodendrocyte differentiation, oligodendrocyte differentiation, embryonic skeletal system development, neuron fate commitment, animal organ formation, positive regulation of skeletal muscle tissue development, embryonic foregut morphogenesis, embryonic digestive tract morphogenesis, thymus development, cell development, negative regulation of alpha-beta T cell differentiation, positive regulation of alpha-beta T cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of smoothened signaling pathway, positive regulation of smoothened signaling pathway, negative regulation of cell differentiation, myoblast differentiation, intermediate filament organization, negative thymic T cell selection, positive thymic T cell selection, CD4-positive or CD8-positive, alpha-beta T cell lineage commitment, negative regulation of apoptotic process, camera-type eye development, embryonic digit morphogenesis, regulation of odontogenesis, odontogenesis of dentin-containing tooth, positive regulation of protein import into nucleus, negative regulation of T cell proliferation, regulation of cell population proliferation, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, protein localization to nucleus, negative regulation of transcription elongation from RNA polymerase II promoter, positive regulation of immature T cell proliferation in thymus, positive regulation of T cell differentiation in thymus, T cell differentiation in thymus, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, hair follicle morphogenesis, pancreas development, hindbrain development, midbrain development, forebrain development, thyroid gland development, prostate gland development, male genitalia development, negative regulation of cell migration, embryonic limb morphogenesis, lung development, positive regulation of Wnt signaling pathway, regulation of proteolysis, establishment of cell polarity, telencephalon regionalization, smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation, cerebellar granule cell precursor proliferation, dorsal/ventral neural tube patterning, thalamus development, spinal cord motor neuron differentiation, spinal cord dorsal/ventral patterning, protein autoprocessing, intein-mediated protein splicing, myotube differentiation, positive regulation of skeletal muscle cell proliferation, striated muscle tissue development, oligodendrocyte development, regulation of gene expression, dorsal/ventral pattern formation, polarity specification of anterior/posterior axis, embryonic pattern specification, positive regulation of cell population proliferation, positive regulation of cell population proliferation, androgen metabolic process, blood coagulation, heart development, hindgut morphogenesis, ventral midline development, central nervous system development, axon guidance, neuroblast proliferation, ectoderm development, pattern specification process, cell-cell signaling, positive regulation of hh target transcription factor activity, smoothened signaling pathway, smoothened signaling pathway, smoothened signaling pathway, smoothened signaling pathway, endocytosis, determination of left/right asymmetry in lateral mesoderm, lymphoid progenitor cell differentiation, osteoblast development, positive regulation of neuroblast proliferation, heart looping, neural crest cell migration, cell fate specification, cell fate specification, branching involved in ureteric bud morphogenesis, metanephros development, vasculogenesis, branching involved in blood vessel morphogenesis, negative regulation of transcription by RNA polymerase II, 1 0 0 0 2 1 0 0 5 ENSG00000164691 chr6 159034468 159045152 - TAGAP protein_coding This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]. 117289 GO:0005829, cytosol, GO:0005515, GO:0005096, GO:0005085, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 4642 6145 5674 9522 6312 6927 20438 10813 10292 ENSG00000164692 chr7 94394561 94431232 + COL1A2 protein_coding This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]. 1278 GO:0070062, GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005783, GO:0005615, GO:0005615, GO:0005584, GO:0005584, GO:0005584, GO:0005584, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, extracellular space, collagen type I trimer, collagen type I trimer, collagen type I trimer, collagen type I trimer, extracellular region, extracellular region, GO:0048407, GO:0046872, GO:0046332, GO:0042802, GO:0030674, GO:0030020, GO:0030020, GO:0005515, GO:0005201, GO:0005201, GO:0002020, platelet-derived growth factor binding, metal ion binding, SMAD binding, identical protein binding, protein-macromolecule adaptor activity, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, protease binding, GO:0085029, GO:0071230, GO:0070208, GO:0050900, GO:0050776, GO:0043589, GO:0042476, GO:0032963, GO:0030282, GO:0030199, GO:0030198, GO:0030198, GO:0030168, GO:0019221, GO:0008217, GO:0007596, GO:0007266, GO:0007179, GO:0001568, GO:0001501, extracellular matrix assembly, cellular response to amino acid stimulus, protein heterotrimerization, leukocyte migration, regulation of immune response, skin morphogenesis, odontogenesis, collagen metabolic process, bone mineralization, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, platelet activation, cytokine-mediated signaling pathway, regulation of blood pressure, blood coagulation, Rho protein signal transduction, transforming growth factor beta receptor signaling pathway, blood vessel development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000164694 chr6 159169397 159272109 + FNDC1 protein_coding 84624 GO:0016607, GO:0005576, nuclear speck, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000164695 chr8 81732434 81759515 + CHMP4C protein_coding CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]. 92421 GO:0090543, GO:0031902, GO:0030496, GO:0009898, GO:0005829, GO:0005771, GO:0000815, GO:0000815, Flemming body, late endosome membrane, midbody, cytoplasmic side of plasma membrane, cytosol, multivesicular body, ESCRT III complex, ESCRT III complex, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:1902188, GO:1901673, GO:0090611, GO:0061952, GO:0050792, GO:0044878, GO:0039702, GO:0036258, GO:0032511, GO:0032466, GO:0019058, GO:0016236, GO:0016197, GO:0015031, GO:0010824, GO:0009838, GO:0007080, GO:0006997, GO:0006900, positive regulation of viral release from host cell, regulation of mitotic spindle assembly, ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway, midbody abscission, regulation of viral process, mitotic cytokinesis checkpoint, viral budding via host ESCRT complex, multivesicular body assembly, late endosome to vacuole transport via multivesicular body sorting pathway, negative regulation of cytokinesis, viral life cycle, macroautophagy, endosomal transport, protein transport, regulation of centrosome duplication, abscission, mitotic metaphase plate congression, nucleus organization, vesicle budding from membrane, 0 0 0 0 0 3 0 1 0 ENSG00000164707 chr7 135681237 135729258 - SLC13A4 protein_coding 26266 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0015382, GO:0005515, sodium:sulfate symporter activity, protein binding, GO:1902358, GO:0098656, GO:0008272, GO:0006814, sulfate transmembrane transport, anion transmembrane transport, sulfate transport, sodium ion transport, 28 26 39 28 38 40 21 27 42 ENSG00000164708 chr7 44062727 44065587 - PGAM2 protein_coding Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]. 5224 GO:0070062, GO:0005829, GO:0005634, extracellular exosome, cytosol, nucleus, GO:0046538, GO:0042802, GO:0016787, GO:0005515, GO:0004619, GO:0004082, 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity, identical protein binding, hydrolase activity, protein binding, phosphoglycerate mutase activity, bisphosphoglycerate mutase activity, GO:0061621, GO:0046689, GO:0007283, GO:0007219, GO:0006941, GO:0006096, GO:0006094, canonical glycolysis, response to mercury ion, spermatogenesis, Notch signaling pathway, striated muscle contraction, glycolytic process, gluconeogenesis, 238 357 461 162 354 234 203 281 230 ENSG00000164713 chr7 98252379 98310441 + BRI3 protein_coding 25798 GO:0048471, GO:0035577, GO:0016021, GO:0005886, GO:0005634, perinuclear region of cytoplasm, azurophil granule membrane, integral component of membrane, plasma membrane, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0043312, neutrophil degranulation, 2533 2177 2372 1541 2005 1835 1907 2119 1809 ENSG00000164715 chr7 98106885 98209633 + LMTK2 protein_coding The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]. 22853 GO:0055037, GO:0048471, GO:0043235, GO:0043025, GO:0030426, GO:0016021, GO:0005887, GO:0005829, GO:0005794, GO:0005769, recycling endosome, perinuclear region of cytoplasm, receptor complex, neuronal cell body, growth cone, integral component of membrane, integral component of plasma membrane, cytosol, Golgi apparatus, early endosome, GO:0106311, GO:0106310, GO:0070853, GO:0005524, GO:0005515, GO:0004864, GO:0004714, GO:0004674, protein threonine kinase activity, protein serine kinase activity, myosin VI binding, ATP binding, protein binding, protein phosphatase inhibitor activity, transmembrane receptor protein tyrosine kinase activity, protein serine/threonine kinase activity, GO:0046777, GO:0045022, GO:0033674, GO:0033572, GO:0032515, GO:0032456, GO:0018108, GO:0018107, GO:0018105, GO:0007409, GO:0007275, GO:0007169, GO:0006468, GO:0001881, protein autophosphorylation, early endosome to late endosome transport, positive regulation of kinase activity, transferrin transport, negative regulation of phosphoprotein phosphatase activity, endocytic recycling, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, axonogenesis, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, protein phosphorylation, receptor recycling, 1521 1085 2618 936 997 1421 1008 716 1293 ENSG00000164729 chr17 35192520 35194523 - SLC35G3 protein_coding 146861 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000164733 chr8 11842524 11869448 - CTSB protein_coding This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 2020]. 1508 GO:1904813, GO:0070062, GO:0062023, GO:0062023, GO:0048471, GO:0043231, GO:0042470, GO:0036021, GO:0016324, GO:0009897, GO:0005764, GO:0005764, GO:0005730, GO:0005622, GO:0005615, GO:0005615, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, melanosome, endolysosome lumen, apical plasma membrane, external side of plasma membrane, lysosome, lysosome, nucleolus, intracellular anatomical structure, extracellular space, extracellular space, extracellular space, extracellular region, GO:0043394, GO:0008234, GO:0008233, GO:0005518, GO:0005515, GO:0004197, GO:0004197, proteoglycan binding, cysteine-type peptidase activity, peptidase activity, collagen binding, protein binding, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, GO:0097067, GO:0051603, GO:0051603, GO:0050790, GO:0046718, GO:0046697, GO:0043312, GO:0042981, GO:0030855, GO:0030574, GO:0030574, GO:0006590, GO:0006508, GO:0002224, cellular response to thyroid hormone stimulus, proteolysis involved in cellular protein catabolic process, proteolysis involved in cellular protein catabolic process, regulation of catalytic activity, viral entry into host cell, decidualization, neutrophil degranulation, regulation of apoptotic process, epithelial cell differentiation, collagen catabolic process, collagen catabolic process, thyroid hormone generation, proteolysis, toll-like receptor signaling pathway, 669 1201 1690 706 1533 1357 769 1359 1181 ENSG00000164736 chr8 54457935 54460888 + SOX17 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]. 64321 GO:0005667, GO:0005654, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, nucleus, chromatin, chromatin, GO:0008134, GO:0008013, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000976, transcription factor binding, beta-catenin binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000043, GO:2000035, GO:1990830, GO:0090090, GO:0072189, GO:0072091, GO:0061031, GO:0061010, GO:0061009, GO:0060956, GO:0060914, GO:0060913, GO:0060214, GO:0050821, GO:0048866, GO:0048617, GO:0045995, GO:0045944, GO:0045944, GO:0045893, GO:0045732, GO:0045597, GO:0042074, GO:0035050, GO:0031648, GO:0030308, GO:0030154, GO:0023019, GO:0021903, GO:0016055, GO:0009653, GO:0007507, GO:0007493, GO:0007283, GO:0006355, GO:0006355, GO:0003308, GO:0003151, GO:0003143, GO:0003142, GO:0001947, GO:0001828, GO:0001706, GO:0001656, GO:0001570, GO:0001570, GO:0001525, GO:0001525, regulation of cardiac cell fate specification, regulation of stem cell division, cellular response to leukemia inhibitory factor, negative regulation of canonical Wnt signaling pathway, ureter development, regulation of stem cell proliferation, endodermal digestive tract morphogenesis, gall bladder development, common bile duct development, endocardial cell differentiation, heart formation, cardiac cell fate determination, endocardium formation, protein stabilization, stem cell fate specification, embryonic foregut morphogenesis, regulation of embryonic development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of protein catabolic process, positive regulation of cell differentiation, cell migration involved in gastrulation, embryonic heart tube development, protein destabilization, negative regulation of cell growth, cell differentiation, signal transduction involved in regulation of gene expression, rostrocaudal neural tube patterning, Wnt signaling pathway, anatomical structure morphogenesis, heart development, endodermal cell fate determination, spermatogenesis, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of Wnt signaling pathway involved in heart development, outflow tract morphogenesis, embryonic heart tube morphogenesis, cardiogenic plate morphogenesis, heart looping, inner cell mass cellular morphogenesis, endoderm formation, metanephros development, vasculogenesis, vasculogenesis, angiogenesis, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000164740 chr7 63495799 63502536 + SEPT7P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000164741 chr8 13083361 13604610 - DLC1 protein_coding This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]. 10395 GO:0045121, GO:0032587, GO:0030864, GO:0005925, GO:0005925, GO:0005901, GO:0005829, GO:0005829, GO:0005737, GO:0005634, membrane raft, ruffle membrane, cortical actin cytoskeleton, focal adhesion, focal adhesion, caveola, cytosol, cytosol, cytoplasm, nucleus, GO:0042169, GO:0008289, GO:0005515, GO:0005096, GO:0005096, GO:0005096, GO:0005096, SH2 domain binding, lipid binding, protein binding, GTPase activator activity, GTPase activator activity, GTPase activator activity, GTPase activator activity, GO:1900119, GO:0051895, GO:0051497, GO:0051056, GO:0048041, GO:0043547, GO:0035307, GO:0035024, GO:0035023, GO:0032956, GO:0030900, GO:0030336, GO:0030336, GO:0030036, GO:0030036, GO:0021575, GO:0008360, GO:0008285, GO:0008285, GO:0007165, GO:0006919, GO:0006915, GO:0003007, GO:0001843, positive regulation of execution phase of apoptosis, negative regulation of focal adhesion assembly, negative regulation of stress fiber assembly, regulation of small GTPase mediated signal transduction, focal adhesion assembly, positive regulation of GTPase activity, positive regulation of protein dephosphorylation, negative regulation of Rho protein signal transduction, regulation of Rho protein signal transduction, regulation of actin cytoskeleton organization, forebrain development, negative regulation of cell migration, negative regulation of cell migration, actin cytoskeleton organization, actin cytoskeleton organization, hindbrain morphogenesis, regulation of cell shape, negative regulation of cell population proliferation, negative regulation of cell population proliferation, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, heart morphogenesis, neural tube closure, 5 1 1 8 3 1 1 1 0 ENSG00000164742 chr7 45574140 45723116 + ADCY1 protein_coding This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 107 GO:0099061, GO:0098978, GO:0098686, GO:0070062, GO:0045121, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005634, integral component of postsynaptic density membrane, glutamatergic synapse, hippocampal mossy fiber to CA3 synapse, extracellular exosome, membrane raft, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0046872, GO:0008294, GO:0008294, GO:0005524, GO:0005516, GO:0004016, metal ion binding, calcium- and calmodulin-responsive adenylate cyclase activity, calcium- and calmodulin-responsive adenylate cyclase activity, ATP binding, calmodulin binding, adenylate cyclase activity, GO:2000300, GO:1904322, GO:1900273, GO:0150076, GO:0071377, GO:0071277, GO:0042752, GO:0042493, GO:0034199, GO:0032793, GO:0019933, GO:0010226, GO:0007623, GO:0007616, GO:0007420, GO:0007409, GO:0007193, GO:0007190, GO:0007189, GO:0007189, GO:0007189, GO:0007186, GO:0006171, GO:0006171, GO:0003091, regulation of synaptic vesicle exocytosis, cellular response to forskolin, positive regulation of long-term synaptic potentiation, neuroinflammatory response, cellular response to glucagon stimulus, cellular response to calcium ion, regulation of circadian rhythm, response to drug, activation of protein kinase A activity, positive regulation of CREB transcription factor activity, cAMP-mediated signaling, response to lithium ion, circadian rhythm, long-term memory, brain development, axonogenesis, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cAMP biosynthetic process, cAMP biosynthetic process, renal water homeostasis, 0 0 0 2 0 0 0 0 0 ENSG00000164743 chr8 13566843 13568287 + C8orf48 protein_coding 157773 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000164744 chr7 47987148 48029119 - SUN3 protein_coding 256979 GO:0034993, GO:0016021, GO:0005637, GO:0005635, meiotic nuclear membrane microtubule tethering complex, integral component of membrane, nuclear inner membrane, nuclear envelope, GO:0043495, protein-membrane adaptor activity, GO:0006998, nuclear envelope organization, 0 0 0 0 0 0 0 0 0 ENSG00000164746 chr7 48035511 48061304 + C7orf57 protein_coding 136288 1 0 1 2 0 0 1 0 0 ENSG00000164749 chr8 75407914 75566843 + HNF4G protein_coding 3174 GO:0005829, GO:0005813, GO:0005654, GO:0005654, GO:0000785, GO:0000785, cytosol, centrosome, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:0008270, GO:0004879, GO:0003700, GO:0001228, GO:0000981, GO:0000978, GO:0000978, zinc ion binding, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048856, GO:0045944, GO:0045944, GO:0030522, GO:0030154, GO:0006367, GO:0006357, anatomical structure development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, intracellular receptor signaling pathway, cell differentiation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000164751 chr8 76980258 77001044 - PEX2 protein_coding This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 5828 GO:0016593, GO:0016593, GO:0016020, GO:0005779, GO:0005779, GO:0005778, GO:0005778, Cdc73/Paf1 complex, Cdc73/Paf1 complex, membrane, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0050680, GO:0048147, GO:0031648, GO:0016567, GO:0016558, GO:0007031, GO:0007031, GO:0006635, GO:0006635, GO:0006625, GO:0000122, GO:0000038, GO:0000038, negative regulation of epithelial cell proliferation, negative regulation of fibroblast proliferation, protein destabilization, protein ubiquitination, protein import into peroxisome matrix, peroxisome organization, peroxisome organization, fatty acid beta-oxidation, fatty acid beta-oxidation, protein targeting to peroxisome, negative regulation of transcription by RNA polymerase II, very long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 157 127 176 108 84 113 91 87 85 ENSG00000164754 chr8 116845935 116874866 - RAD21 protein_coding The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]. 5885 GO:0034991, GO:0034990, GO:0016363, GO:0016020, GO:0008278, GO:0008278, GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0000922, GO:0000795, GO:0000785, GO:0000779, GO:0000775, nuclear meiotic cohesin complex, nuclear mitotic cohesin complex, nuclear matrix, membrane, cohesin complex, cohesin complex, cytosol, chromosome, nucleoplasm, nucleoplasm, spindle pole, synaptonemal complex, chromatin, condensed chromosome, centromeric region, chromosome, centromeric region, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:1990414, GO:0071168, GO:0051301, GO:0051177, GO:0045876, GO:0045841, GO:0010972, GO:0007275, GO:0007131, GO:0007130, GO:0007064, GO:0006915, GO:0006357, GO:0006310, GO:0006302, replication-born double-strand break repair via sister chromatid exchange, protein localization to chromatin, cell division, meiotic sister chromatid cohesion, positive regulation of sister chromatid cohesion, negative regulation of mitotic metaphase/anaphase transition, negative regulation of G2/M transition of mitotic cell cycle, multicellular organism development, reciprocal meiotic recombination, synaptonemal complex assembly, mitotic sister chromatid cohesion, apoptotic process, regulation of transcription by RNA polymerase II, DNA recombination, double-strand break repair, 3532 3081 4383 1155 1694 1652 1475 1532 1301 ENSG00000164756 chr8 116950273 117176714 + SLC30A8 protein_coding The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]. 169026 GO:0031410, GO:0030667, GO:0030658, GO:0030141, GO:0016021, GO:0005886, GO:0005886, GO:0005794, cytoplasmic vesicle, secretory granule membrane, transport vesicle membrane, secretory granule, integral component of membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0042803, GO:0008270, GO:0005515, GO:0005385, GO:0005385, GO:0005385, protein homodimerization activity, zinc ion binding, protein binding, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0071577, GO:0070555, GO:0061088, GO:0061088, GO:0060627, GO:0042593, GO:0034341, GO:0032119, GO:0032024, GO:0030073, GO:0030073, GO:0010043, GO:0009749, GO:0009749, GO:0006882, GO:0006829, zinc ion transmembrane transport, response to interleukin-1, regulation of sequestering of zinc ion, regulation of sequestering of zinc ion, regulation of vesicle-mediated transport, glucose homeostasis, response to interferon-gamma, sequestering of zinc ion, positive regulation of insulin secretion, insulin secretion, insulin secretion, response to zinc ion, response to glucose, response to glucose, cellular zinc ion homeostasis, zinc ion transport, 0 0 2 0 0 3 0 0 0 ENSG00000164758 chr8 117520713 117540262 + MED30 protein_coding The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]. 90390 GO:0016592, GO:0016592, GO:0005654, GO:0005634, mediator complex, mediator complex, nucleoplasm, nucleus, GO:0046966, GO:0042809, GO:0030374, GO:0005515, GO:0003713, GO:0003712, GO:0003712, thyroid hormone receptor binding, vitamin D receptor binding, nuclear receptor coactivator activity, protein binding, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, GO:0060261, GO:0045893, GO:0045893, GO:0019827, GO:0006367, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, stem cell population maintenance, transcription initiation from RNA polymerase II promoter, 337 250 333 133 201 211 131 135 178 ENSG00000164761 chr8 118923557 118952200 - TNFRSF11B protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]. 4982 GO:0031012, GO:0005886, GO:0005615, GO:0005576, extracellular matrix, plasma membrane, extracellular space, extracellular region, GO:0038023, GO:0005515, GO:0005125, signaling receptor activity, protein binding, cytokine activity, GO:0046685, GO:0045779, GO:0043627, GO:0042493, GO:0042489, GO:0033209, GO:0032026, GO:0030198, GO:0007584, GO:0007165, GO:0006915, GO:0001501, response to arsenic-containing substance, negative regulation of bone resorption, response to estrogen, response to drug, negative regulation of odontogenesis of dentin-containing tooth, tumor necrosis factor-mediated signaling pathway, response to magnesium ion, extracellular matrix organization, response to nutrient, signal transduction, apoptotic process, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000164764 chr8 73064540 73124088 - SBSPON protein_coding 157869 GO:0062023, GO:0062023, collagen-containing extracellular matrix, collagen-containing extracellular matrix, GO:0005201, extracellular matrix structural constituent, 2 0 4 2 7 10 8 8 8 ENSG00000164776 chr7 56080283 56092996 - PHKG1 protein_coding This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 5260 GO:0005964, GO:0005829, phosphorylase kinase complex, cytosol, GO:0106311, GO:0106310, GO:0050321, GO:0019899, GO:0005524, GO:0005516, GO:0004689, protein threonine kinase activity, protein serine kinase activity, tau-protein kinase activity, enzyme binding, ATP binding, calmodulin binding, phosphorylase kinase activity, GO:0006468, GO:0005980, GO:0005978, GO:0005975, protein phosphorylation, glycogen catabolic process, glycogen biosynthetic process, carbohydrate metabolic process, 23 30 30 40 34 57 44 43 48 ENSG00000164778 chr7 155458129 155464831 + EN2 protein_coding Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]. 2020 GO:0016020, GO:0005730, GO:0005654, GO:0005634, GO:0001650, GO:0000785, membrane, nucleolus, nucleoplasm, nucleus, fibrillar center, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990403, GO:0048666, GO:0045944, GO:0043524, GO:0030902, GO:0030901, GO:0030182, GO:0007275, GO:0006357, embryonic brain development, neuron development, positive regulation of transcription by RNA polymerase II, negative regulation of neuron apoptotic process, hindbrain development, midbrain development, neuron differentiation, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 8 4 6 0 4 0 ENSG00000164794 chr8 109963645 109975847 - KCNV1 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]. 27012 GO:0016021, GO:0008076, GO:0005887, GO:0005886, integral component of membrane, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:0015459, GO:0008200, GO:0005249, potassium channel regulator activity, ion channel inhibitor activity, voltage-gated potassium channel activity, GO:0071805, GO:0051260, GO:0034765, GO:0006813, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000164796 chr8 112222928 113437099 - CSMD3 protein_coding 114788 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0050773, regulation of dendrite development, 0 0 0 0 0 0 0 0 0 ENSG00000164808 chr8 47260575 47736306 + SPIDR protein_coding 23514 GO:0005654, GO:0005654, GO:0005654, GO:0000228, GO:0000228, nucleoplasm, nucleoplasm, nucleoplasm, nuclear chromosome, nuclear chromosome, GO:0005515, protein binding, GO:2000781, GO:0072757, GO:0072711, GO:0071479, GO:0070202, GO:0070202, GO:0031334, GO:0010569, GO:0006974, GO:0000724, GO:0000724, positive regulation of double-strand break repair, cellular response to camptothecin, cellular response to hydroxyurea, cellular response to ionizing radiation, regulation of establishment of protein localization to chromosome, regulation of establishment of protein localization to chromosome, positive regulation of protein-containing complex assembly, regulation of double-strand break repair via homologous recombination, cellular response to DNA damage stimulus, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 245 429 376 257 569 427 268 519 372 ENSG00000164815 chr7 104126341 104208047 - ORC5 protein_coding The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]. 5001 GO:0005829, GO:0005664, GO:0005664, GO:0005664, GO:0005654, GO:0005654, GO:0005634, GO:0000808, GO:0000785, GO:0000781, cytosol, nuclear origin of replication recognition complex, nuclear origin of replication recognition complex, nuclear origin of replication recognition complex, nucleoplasm, nucleoplasm, nucleus, origin recognition complex, chromatin, chromosome, telomeric region, GO:0005524, GO:0005515, GO:0003688, GO:0003674, GO:0000166, ATP binding, protein binding, DNA replication origin binding, molecular_function, nucleotide binding, GO:0006275, GO:0006270, GO:0006260, GO:0006260, GO:0000082, regulation of DNA replication, DNA replication initiation, DNA replication, DNA replication, G1/S transition of mitotic cell cycle, 3 6 11 36 10 29 16 10 30 ENSG00000164816 chr8 7055304 7056734 - DEFA5 protein_coding Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]. 1670 GO:0043231, GO:0034774, GO:0030496, GO:0030133, GO:0005796, GO:0005615, GO:0005576, intracellular membrane-bounded organelle, secretory granule lumen, midbody, transport vesicle, Golgi lumen, extracellular space, extracellular region, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:1905710, GO:0071222, GO:0061844, GO:0061844, GO:0051873, GO:0051673, GO:0050832, GO:0050830, GO:0050830, GO:0050829, GO:0050829, GO:0045087, GO:0031640, GO:0019731, GO:0019730, GO:0002227, positive regulation of membrane permeability, cellular response to lipopolysaccharide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, killing by host of symbiont cells, membrane disruption in other organism, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, innate immune response, killing of cells of other organism, antibacterial humoral response, antimicrobial humoral response, innate immune response in mucosa, 0 0 0 0 0 0 0 0 0 ENSG00000164818 chr7 726701 786475 + DNAAF5 protein_coding The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]. 54919 GO:0031514, GO:0005737, GO:0005737, motile cilium, cytoplasm, cytoplasm, GO:0045505, GO:0045505, dynein intermediate chain binding, dynein intermediate chain binding, GO:0036159, GO:0036159, GO:0036158, GO:0036158, GO:0003341, GO:0003341, inner dynein arm assembly, inner dynein arm assembly, outer dynein arm assembly, outer dynein arm assembly, cilium movement, cilium movement, 17 14 14 28 9 39 28 12 21 ENSG00000164821 chr8 6935822 6938338 - DEFA4 protein_coding Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]. 1669 GO:0042582, GO:0035580, GO:0005796, GO:0005615, GO:0005576, azurophil granule, specific granule lumen, Golgi lumen, extracellular space, extracellular region, GO:0042803, protein homodimerization activity, GO:0071222, GO:0061844, GO:0061844, GO:0051673, GO:0050832, GO:0050830, GO:0050830, GO:0050829, GO:0050829, GO:0045087, GO:0043312, GO:0031640, GO:0019732, GO:0019731, GO:0019731, GO:0019730, GO:0019730, GO:0002227, cellular response to lipopolysaccharide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, membrane disruption in other organism, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, innate immune response, neutrophil degranulation, killing of cells of other organism, antifungal humoral response, antibacterial humoral response, antibacterial humoral response, antimicrobial humoral response, antimicrobial humoral response, innate immune response in mucosa, 3 2 8 5 9 18 0 3 4 ENSG00000164822 chr8 6924693 6926076 - DEFA6 protein_coding Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]. 1671 GO:0005796, GO:0005615, GO:0005576, Golgi lumen, extracellular space, extracellular region, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0071222, GO:0061844, GO:0051673, GO:0050832, GO:0050830, GO:0050829, GO:0031640, GO:0019731, GO:0019730, GO:0002227, cellular response to lipopolysaccharide, antimicrobial humoral immune response mediated by antimicrobial peptide, membrane disruption in other organism, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, killing of cells of other organism, antibacterial humoral response, antimicrobial humoral response, innate immune response in mucosa, 0 0 0 0 0 0 0 0 0 ENSG00000164823 chr8 89901849 89927888 + OSGIN2 protein_coding 734 GO:0005575, cellular_component, GO:0008083, GO:0003674, growth factor activity, molecular_function, GO:0051321, GO:0030308, GO:0007165, meiotic cell cycle, negative regulation of cell growth, signal transduction, 1366 734 1626 230 367 362 402 420 272 ENSG00000164825 chr8 6870575 6878022 - DEFB1 protein_coding Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]. 1672 GO:1990742, GO:0097225, GO:0070062, GO:0019898, GO:0005796, GO:0005615, GO:0005615, GO:0005576, microvesicle, sperm midpiece, extracellular exosome, extrinsic component of membrane, Golgi lumen, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0031731, GO:0031731, GO:0005515, identical protein binding, CCR6 chemokine receptor binding, CCR6 chemokine receptor binding, protein binding, GO:0061844, GO:0061844, GO:0060474, GO:0050830, GO:0050830, GO:0050830, GO:0050829, GO:0050829, GO:0045087, GO:0045087, GO:0042742, GO:0035584, GO:0019933, GO:0019731, GO:0019730, GO:0009617, GO:0009617, GO:0007186, GO:0006955, GO:0006935, GO:0002227, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, positive regulation of flagellated sperm motility involved in capacitation, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, innate immune response, innate immune response, defense response to bacterium, calcium-mediated signaling using intracellular calcium source, cAMP-mediated signaling, antibacterial humoral response, antimicrobial humoral response, response to bacterium, response to bacterium, G protein-coupled receptor signaling pathway, immune response, chemotaxis, innate immune response in mucosa, innate immune response in mucosa, 0 0 0 0 0 0 0 0 0 ENSG00000164828 chr7 816615 896435 + SUN1 protein_coding This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2019]. 23353 GO:0043231, GO:0034993, GO:0034993, GO:0031965, GO:0005737, GO:0005639, GO:0005635, GO:0005635, GO:0005635, intracellular membrane-bounded organelle, meiotic nuclear membrane microtubule tethering complex, meiotic nuclear membrane microtubule tethering complex, nuclear membrane, cytoplasm, integral component of nuclear inner membrane, nuclear envelope, nuclear envelope, nuclear envelope, GO:0140444, GO:0043495, GO:0005521, GO:0005515, cytoskeleton-nuclear membrane anchor activity, protein-membrane adaptor activity, lamin binding, protein binding, GO:0090292, GO:0070197, GO:0051642, GO:0021817, GO:0007283, GO:0007129, GO:0006998, GO:0006998, nuclear matrix anchoring at nuclear membrane, meiotic attachment of telomere to nuclear envelope, centrosome localization, nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration, spermatogenesis, homologous chromosome pairing at meiosis, nuclear envelope organization, nuclear envelope organization, 66 33 102 180 59 163 104 44 94 ENSG00000164830 chr8 106359476 106752694 + OXR1 protein_coding 55074 GO:0005739, GO:0005730, GO:0005634, mitochondrion, nucleolus, nucleus, GO:0016491, GO:0003674, oxidoreductase activity, molecular_function, GO:1903204, GO:1902083, GO:0071447, GO:0055114, GO:0051402, GO:0043524, GO:0007628, GO:0006979, GO:0006979, negative regulation of oxidative stress-induced neuron death, negative regulation of peptidyl-cysteine S-nitrosylation, cellular response to hydroperoxide, oxidation-reduction process, neuron apoptotic process, negative regulation of neuron apoptotic process, adult walking behavior, response to oxidative stress, response to oxidative stress, 193 164 278 157 174 198 147 172 141 ENSG00000164841 chr8 108606850 108787615 - TMEM74 protein_coding 157753 GO:0031410, GO:0016021, GO:0005765, GO:0000421, cytoplasmic vesicle, integral component of membrane, lysosomal membrane, autophagosome membrane, GO:0005515, protein binding, GO:0016236, macroautophagy, 0 0 0 0 0 0 0 0 1 ENSG00000164845 chr12 8232512 8242948 - FAM86FP transcribed_unprocessed_pseudogene 3 0 2 2 0 0 0 0 0 ENSG00000164849 chr7 1044576 1059261 + GPR146 protein_coding 115330 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 9 18 56 6 1 4 2 5 3 ENSG00000164850 chr7 1082208 1093815 + GPER1 protein_coding This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple downstream signaling pathways, leading to stimulation of adenylate cyclase and an increase in cyclic AMP levels, while also promoting intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. This receptor has been shown to play a role in diverse biological processes, including bone and nervous system development, metabolism, cognition, male fertility and uterine function. [provided by RefSeq, Aug 2017]. 2852 GO:0055037, GO:0048786, GO:0048471, GO:0045095, GO:0044327, GO:0043679, GO:0043198, GO:0042734, GO:0032591, GO:0031966, GO:0030659, GO:0030425, GO:0030424, GO:0014069, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005802, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005769, GO:0005737, GO:0005635, GO:0005634, GO:0000139, recycling endosome, presynaptic active zone, perinuclear region of cytoplasm, keratin filament, dendritic spine head, axon terminus, dendritic shaft, presynaptic membrane, dendritic spine membrane, mitochondrial membrane, cytoplasmic vesicle membrane, dendrite, axon, postsynaptic density, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, early endosome, cytoplasm, nuclear envelope, nucleus, Golgi membrane, GO:1990239, GO:0030284, GO:0030284, GO:0005515, GO:0005496, GO:0004930, GO:0003707, GO:0003682, steroid hormone binding, estrogen receptor activity, estrogen receptor activity, protein binding, steroid binding, G protein-coupled receptor activity, steroid hormone receptor activity, chromatin binding, GO:2001238, GO:2000724, GO:2000353, GO:1904706, GO:1903078, GO:0097755, GO:0090200, GO:0071392, GO:0071392, GO:0071389, GO:0071375, GO:0071356, GO:0071333, GO:0071157, GO:0070474, GO:0070374, GO:0070374, GO:0070373, GO:0051898, GO:0051480, GO:0051281, GO:0051055, GO:0051053, GO:0050769, GO:0050728, GO:0045944, GO:0045944, GO:0045745, GO:0045742, GO:0045599, GO:0045087, GO:0043410, GO:0043401, GO:0043280, GO:0043065, GO:0032962, GO:0032024, GO:0030518, GO:0030518, GO:0030335, GO:0030264, GO:0030263, GO:0019228, GO:0014068, GO:0010948, GO:0010629, GO:0010629, GO:0010628, GO:0010628, GO:0008285, GO:0008284, GO:0007204, GO:0007189, GO:0007186, GO:0007186, GO:0007049, GO:0006954, GO:0002695, GO:0001956, GO:0001934, GO:0001934, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of cardiac vascular smooth muscle cell differentiation, positive regulation of endothelial cell apoptotic process, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of protein localization to plasma membrane, positive regulation of blood vessel diameter, positive regulation of release of cytochrome c from mitochondria, cellular response to estradiol stimulus, cellular response to estradiol stimulus, cellular response to mineralocorticoid stimulus, cellular response to peptide hormone stimulus, cellular response to tumor necrosis factor, cellular response to glucose stimulus, negative regulation of cell cycle arrest, positive regulation of uterine smooth muscle contraction, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of protein kinase B signaling, regulation of cytosolic calcium ion concentration, positive regulation of release of sequestered calcium ion into cytosol, negative regulation of lipid biosynthetic process, negative regulation of DNA metabolic process, positive regulation of neurogenesis, negative regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of G protein-coupled receptor signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, negative regulation of fat cell differentiation, innate immune response, positive regulation of MAPK cascade, steroid hormone mediated signaling pathway, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, positive regulation of inositol trisphosphate biosynthetic process, positive regulation of insulin secretion, intracellular steroid hormone receptor signaling pathway, intracellular steroid hormone receptor signaling pathway, positive regulation of cell migration, nuclear fragmentation involved in apoptotic nuclear change, apoptotic chromosome condensation, neuronal action potential, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cell cycle process, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell cycle, inflammatory response, negative regulation of leukocyte activation, positive regulation of neurotransmitter secretion, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, 0 0 1 1 0 0 0 1 0 ENSG00000164853 chr7 1232907 1237318 + UNCX protein_coding This gene encodes a homeobox transcription factor that is involved in somitogenesis and neurogenesis and is required for the maintenance and differentiation of specific elements of the axial skeleton. This gene also plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and deliver hormones that control peripheral functions. The expression of this gene is associated with an increased frequency of acute myeloid leukemia. [provided by RefSeq, Jul 2017]. 340260 GO:0000785, chromatin, GO:1990837, GO:1990837, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0045595, GO:0035726, GO:0021889, GO:0021516, GO:0010468, GO:0007389, GO:0006357, GO:0001502, regulation of cell differentiation, common myeloid progenitor cell proliferation, olfactory bulb interneuron differentiation, dorsal spinal cord development, regulation of gene expression, pattern specification process, regulation of transcription by RNA polymerase II, cartilage condensation, 0 0 0 0 0 0 0 0 0 ENSG00000164855 chr7 1542235 1560821 - TMEM184A protein_coding 202915 GO:0048471, GO:0031901, GO:0031901, GO:0030667, GO:0030659, GO:0030658, GO:0016021, GO:0005886, GO:0005768, perinuclear region of cytoplasm, early endosome membrane, early endosome membrane, secretory granule membrane, cytoplasmic vesicle membrane, transport vesicle membrane, integral component of membrane, plasma membrane, endosome, GO:0008201, GO:0005215, heparin binding, transporter activity, GO:0006810, transport, 181 285 291 423 391 418 481 289 325 ENSG00000164867 chr7 150990995 151014588 + NOS3 protein_coding Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 4846 GO:0030666, GO:0012506, GO:0005901, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0000139, endocytic vesicle membrane, vesicle membrane, caveola, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleus, nucleus, Golgi membrane, GO:0097110, GO:0050661, GO:0050660, GO:0050660, GO:0046870, GO:0034618, GO:0034617, GO:0020037, GO:0016709, GO:0016491, GO:0010181, GO:0010181, GO:0005516, GO:0005515, GO:0004517, GO:0004517, GO:0004517, GO:0003958, GO:0003785, scaffold protein binding, NADP binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, cadmium ion binding, arginine binding, tetrahydrobiopterin binding, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, FMN binding, FMN binding, calmodulin binding, protein binding, nitric-oxide synthase activity, nitric-oxide synthase activity, nitric-oxide synthase activity, NADPH-hemoprotein reductase activity, actin monomer binding, GO:1902042, GO:0097746, GO:0070168, GO:0060412, GO:0055114, GO:0051926, GO:0051346, GO:0050999, GO:0048873, GO:0048662, GO:0045776, GO:0045766, GO:0045766, GO:0045747, GO:0045454, GO:0043542, GO:0043536, GO:0043267, GO:0042311, GO:0034405, GO:0032496, GO:0031663, GO:0031644, GO:0031284, GO:0031284, GO:0031284, GO:0030324, GO:0019430, GO:0014806, GO:0014740, GO:0010628, GO:0010544, GO:0009725, GO:0009408, GO:0008285, GO:0008217, GO:0007263, GO:0007005, GO:0006809, GO:0006809, GO:0006527, GO:0006527, GO:0003203, GO:0003184, GO:0003180, GO:0003100, GO:0003057, GO:0002028, GO:0001974, GO:0001701, GO:0001542, GO:0001525, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, blood vessel diameter maintenance, negative regulation of biomineral tissue development, ventricular septum morphogenesis, oxidation-reduction process, negative regulation of calcium ion transport, negative regulation of hydrolase activity, regulation of nitric-oxide synthase activity, homeostasis of number of cells within a tissue, negative regulation of smooth muscle cell proliferation, negative regulation of blood pressure, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of Notch signaling pathway, cell redox homeostasis, endothelial cell migration, positive regulation of blood vessel endothelial cell migration, negative regulation of potassium ion transport, vasodilation, response to fluid shear stress, response to lipopolysaccharide, lipopolysaccharide-mediated signaling pathway, regulation of nervous system process, positive regulation of guanylate cyclase activity, positive regulation of guanylate cyclase activity, positive regulation of guanylate cyclase activity, lung development, removal of superoxide radicals, smooth muscle hyperplasia, negative regulation of muscle hyperplasia, positive regulation of gene expression, negative regulation of platelet activation, response to hormone, response to heat, negative regulation of cell population proliferation, regulation of blood pressure, nitric oxide mediated signal transduction, mitochondrion organization, nitric oxide biosynthetic process, nitric oxide biosynthetic process, arginine catabolic process, arginine catabolic process, endocardial cushion morphogenesis, pulmonary valve morphogenesis, aortic valve morphogenesis, regulation of systemic arterial blood pressure by endothelin, regulation of the force of heart contraction by chemical signal, regulation of sodium ion transport, blood vessel remodeling, in utero embryonic development, ovulation from ovarian follicle, angiogenesis, 5 0 7 3 1 7 5 3 6 ENSG00000164871 chr8 7442684 7463674 - SPAG11B protein_coding This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]. 10407 GO:0005576, extracellular region, GO:0003674, molecular_function, GO:0061844, GO:0042742, GO:0007283, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to bacterium, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000164877 chr7 1428465 1459502 - MICALL2 protein_coding 79778 GO:0055037, GO:0043005, GO:0032432, GO:0005923, GO:0005911, GO:0005886, GO:0005829, GO:0001725, recycling endosome, neuron projection, actin filament bundle, bicellular tight junction, cell-cell junction, plasma membrane, cytosol, stress fiber, GO:0051015, GO:0046872, GO:0031267, GO:0031005, GO:0005515, actin filament binding, metal ion binding, small GTPase binding, filamin binding, protein binding, GO:1903955, GO:0070830, GO:0034446, GO:0032456, GO:0031532, GO:0031175, GO:0030041, positive regulation of protein targeting to mitochondrion, bicellular tight junction assembly, substrate adhesion-dependent cell spreading, endocytic recycling, actin cytoskeleton reorganization, neuron projection development, actin filament polymerization, 8 30 24 4 32 20 14 17 26 ENSG00000164879 chr8 85373436 85449040 + CA3 protein_coding Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]. 761 GO:0005829, GO:0005829, cytosol, cytosol, GO:0016836, GO:0016791, GO:0016151, GO:0008270, GO:0005515, GO:0004089, hydro-lyase activity, phosphatase activity, nickel cation binding, zinc ion binding, protein binding, carbonate dehydratase activity, GO:0045471, GO:0016311, GO:0015701, GO:0009617, GO:0006979, GO:0006730, response to ethanol, dephosphorylation, bicarbonate transport, response to bacterium, response to oxidative stress, one-carbon metabolic process, 0 0 0 0 0 0 0 2 0 ENSG00000164880 chr7 1470277 1504367 - INTS1 protein_coding INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]. 26173 GO:0032039, GO:0032039, GO:0031965, GO:0016021, GO:0016020, GO:0005654, integrator complex, integrator complex, nuclear membrane, integral component of membrane, membrane, nucleoplasm, GO:0042795, GO:0034474, GO:0016180, snRNA transcription by RNA polymerase II, U2 snRNA 3'-end processing, snRNA processing, 496 608 780 438 507 603 450 396 621 ENSG00000164885 chr7 151053812 151058530 - CDK5 protein_coding This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]. 1020 GO:0098793, GO:0043204, GO:0043025, GO:0043005, GO:0031594, GO:0030426, GO:0030425, GO:0030424, GO:0030175, GO:0030027, GO:0016533, GO:0016020, GO:0014069, GO:0005886, GO:0005874, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, presynapse, perikaryon, neuronal cell body, neuron projection, neuromuscular junction, growth cone, dendrite, axon, filopodium, lamellipodium, protein kinase 5 complex, membrane, postsynaptic density, plasma membrane, microtubule, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0099635, GO:0051879, GO:0050321, GO:0050321, GO:0048156, GO:0046875, GO:0043125, GO:0030549, GO:0019901, GO:0016301, GO:0008017, GO:0005524, GO:0005515, GO:0005176, GO:0004693, GO:0004693, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0002039, protein threonine kinase activity, protein serine kinase activity, voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels, Hsp90 protein binding, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, ephrin receptor binding, ErbB-3 class receptor binding, acetylcholine receptor activator activity, protein kinase binding, kinase activity, microtubule binding, ATP binding, protein binding, ErbB-2 class receptor binding, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, p53 binding, GO:2000251, GO:1904646, GO:1903421, GO:1903076, GO:1901796, GO:1901387, GO:1901215, GO:0099703, GO:0099601, GO:0090314, GO:0071156, GO:0070509, GO:0061001, GO:0060079, GO:0051966, GO:0051402, GO:0051402, GO:0051301, GO:0048813, GO:0048709, GO:0048675, GO:0048511, GO:0048489, GO:0048488, GO:0048167, GO:0048167, GO:0048148, GO:0046826, GO:0046777, GO:0045956, GO:0045892, GO:0045861, GO:0045860, GO:0045786, GO:0043525, GO:0043113, GO:0042981, GO:0042501, GO:0035418, GO:0035249, GO:0034352, GO:0032801, GO:0032092, GO:0031914, GO:0031397, GO:0031175, GO:0031175, GO:0030866, GO:0030517, GO:0030334, GO:0030182, GO:0030182, GO:0022038, GO:0021954, GO:0021819, GO:0021766, GO:0021697, GO:0019233, GO:0018107, GO:0018105, GO:0018105, GO:0016572, GO:0016310, GO:0016241, GO:0016079, GO:0014044, GO:0009611, GO:0008542, GO:0008045, GO:0007519, GO:0007416, GO:0007409, GO:0007268, GO:0007160, GO:0007005, GO:0006913, GO:0006886, GO:0006468, GO:0006468, GO:0001963, GO:0001764, GO:0000226, GO:0000083, positive regulation of actin cytoskeleton reorganization, cellular response to amyloid-beta, regulation of synaptic vesicle recycling, regulation of protein localization to plasma membrane, regulation of signal transduction by p53 class mediator, positive regulation of voltage-gated calcium channel activity, negative regulation of neuron death, induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration, regulation of neurotransmitter receptor activity, positive regulation of protein targeting to membrane, regulation of cell cycle arrest, calcium ion import, regulation of dendritic spine morphogenesis, excitatory postsynaptic potential, regulation of synaptic transmission, glutamatergic, neuron apoptotic process, neuron apoptotic process, cell division, dendrite morphogenesis, oligodendrocyte differentiation, axon extension, rhythmic process, synaptic vesicle transport, synaptic vesicle endocytosis, regulation of synaptic plasticity, regulation of synaptic plasticity, behavioral response to cocaine, negative regulation of protein export from nucleus, protein autophosphorylation, positive regulation of calcium ion-dependent exocytosis, negative regulation of transcription, DNA-templated, negative regulation of proteolysis, positive regulation of protein kinase activity, negative regulation of cell cycle, positive regulation of neuron apoptotic process, receptor clustering, regulation of apoptotic process, serine phosphorylation of STAT protein, protein localization to synapse, synaptic transmission, glutamatergic, positive regulation of glial cell apoptotic process, receptor catabolic process, positive regulation of protein binding, negative regulation of synaptic plasticity, negative regulation of protein ubiquitination, neuron projection development, neuron projection development, cortical actin cytoskeleton organization, negative regulation of axon extension, regulation of cell migration, neuron differentiation, neuron differentiation, corpus callosum development, central nervous system neuron development, layer formation in cerebral cortex, hippocampus development, cerebellar cortex formation, sensory perception of pain, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, histone phosphorylation, phosphorylation, regulation of macroautophagy, synaptic vesicle exocytosis, Schwann cell development, response to wounding, visual learning, motor neuron axon guidance, skeletal muscle tissue development, synapse assembly, axonogenesis, chemical synaptic transmission, cell-matrix adhesion, mitochondrion organization, nucleocytoplasmic transport, intracellular protein transport, protein phosphorylation, protein phosphorylation, synaptic transmission, dopaminergic, neuron migration, microtubule cytoskeleton organization, regulation of transcription involved in G1/S transition of mitotic cell cycle, 8 2 8 1 7 16 13 2 3 ENSG00000164889 chr7 151057210 151076527 + SLC4A2 protein_coding This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]. 6522 GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0005925, GO:0005886, GO:0005886, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, focal adhesion, plasma membrane, plasma membrane, GO:0022857, GO:0019899, GO:0015301, GO:0008509, GO:0005452, transmembrane transporter activity, enzyme binding, anion:anion antiporter activity, anion transmembrane transporter activity, inorganic anion exchanger activity, GO:0098656, GO:0055085, GO:0051453, GO:0050801, GO:0048565, GO:0015701, GO:0015701, GO:0015698, GO:0007283, GO:0006820, anion transmembrane transport, transmembrane transport, regulation of intracellular pH, ion homeostasis, digestive tract development, bicarbonate transport, bicarbonate transport, inorganic anion transport, spermatogenesis, anion transport, 99 134 137 130 150 127 130 86 73 ENSG00000164893 chr8 86214052 86321146 - SLC7A13 protein_coding 157724 GO:0016021, integral component of membrane, GO:0015179, L-amino acid transmembrane transporter activity, GO:1902475, GO:0003333, L-alpha-amino acid transmembrane transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000164896 chr7 151076593 151080866 - FASTK protein_coding The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]. 10922 GO:0005759, mitochondrial matrix, GO:0033867, GO:0005524, GO:0005515, GO:0004674, GO:0003723, Fas-activated serine/threonine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, RNA binding, GO:0097190, GO:0044528, GO:0043484, GO:0043484, GO:0006468, apoptotic signaling pathway, regulation of mitochondrial mRNA stability, regulation of RNA splicing, regulation of RNA splicing, protein phosphorylation, 65 77 117 116 117 134 131 112 146 ENSG00000164897 chr7 151081080 151083546 - TMUB1 protein_coding 83590 GO:0055037, GO:0045211, GO:0016021, GO:0005829, GO:0005815, GO:0005730, GO:0005654, recycling endosome, postsynaptic membrane, integral component of membrane, cytosol, microtubule organizing center, nucleolus, nucleoplasm, GO:0005515, protein binding, GO:0030433, GO:0030433, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, 129 174 172 137 184 226 173 154 176 ENSG00000164898 chr7 139339457 139346319 + FMC1 protein_coding 154791 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0061469, GO:0050995, GO:0033615, regulation of type B pancreatic cell proliferation, negative regulation of lipid catabolic process, mitochondrial proton-transporting ATP synthase complex assembly, 3 0 2 4 0 12 7 1 2 ENSG00000164900 chr7 151148589 151174745 - GBX1 protein_coding 2636 GO:0005634, GO:0000785, nucleus, chromatin, GO:0000981, GO:0000981, GO:0000977, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0097374, GO:0051960, GO:0048663, GO:0045944, GO:0021522, GO:0019230, GO:0007628, GO:0006357, sensory neuron axon guidance, regulation of nervous system development, neuron fate commitment, positive regulation of transcription by RNA polymerase II, spinal cord motor neuron differentiation, proprioception, adult walking behavior, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000164902 chr5 126600268 126627252 + PHAX protein_coding 51808 GO:0043025, GO:0015030, GO:0005829, GO:0005813, GO:0005654, GO:0005654, GO:0005634, neuronal cell body, Cajal body, cytosol, centrosome, nucleoplasm, nucleoplasm, nucleus, GO:0015643, GO:0005515, GO:0003723, toxic substance binding, protein binding, RNA binding, GO:0051168, GO:0042795, GO:0015031, GO:0006408, GO:0006408, nuclear export, snRNA transcription by RNA polymerase II, protein transport, snRNA export from nucleus, snRNA export from nucleus, 33 40 60 32 23 41 31 27 16 ENSG00000164904 chr5 126531200 126595418 - ALDH7A1 protein_coding The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]. 501 GO:0070062, GO:0005829, GO:0005759, GO:0005739, GO:0005634, extracellular exosome, cytosol, mitochondrial matrix, mitochondrion, nucleus, GO:0043878, GO:0008802, GO:0005515, GO:0004043, GO:0004029, glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity, betaine-aldehyde dehydrogenase activity, protein binding, L-aminoadipate-semialdehyde dehydrogenase activity, aldehyde dehydrogenase (NAD+) activity, GO:0055114, GO:0042426, GO:0019285, GO:0007605, GO:0006554, GO:0006081, oxidation-reduction process, choline catabolic process, glycine betaine biosynthetic process from choline, sensory perception of sound, lysine catabolic process, cellular aldehyde metabolic process, 0 0 0 0 3 0 0 0 4 ENSG00000164916 chr7 4682309 4771443 + FOXK1 protein_coding 221937 GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0071889, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, 14-3-3 protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0061621, GO:0045893, GO:0045892, GO:0042594, GO:0030154, GO:0016579, GO:0016032, GO:0010906, GO:0010507, GO:0007517, GO:0006357, GO:0001678, GO:0000122, canonical glycolysis, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, response to starvation, cell differentiation, protein deubiquitination, viral process, regulation of glucose metabolic process, negative regulation of autophagy, muscle organ development, regulation of transcription by RNA polymerase II, cellular glucose homeostasis, negative regulation of transcription by RNA polymerase II, 177 142 233 237 182 223 199 123 232 ENSG00000164919 chr8 99873200 99894062 - COX6C protein_coding Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]. 1345 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0006123, GO:0006091, proton transmembrane transport, mitochondrial electron transport, cytochrome c to oxygen, generation of precursor metabolites and energy, 19 22 42 158 48 144 60 47 102 ENSG00000164920 chr8 98944403 98952104 + OSR2 protein_coding OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]. 116039 GO:0005634, GO:0005634, nucleus, nucleus, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0001228, GO:0001227, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0072498, GO:0061029, GO:0060349, GO:0060322, GO:0060272, GO:0060021, GO:0050679, GO:0048704, GO:0045944, GO:0045893, GO:0042733, GO:0042476, GO:0042474, GO:0036023, GO:0035116, GO:0035115, GO:0033687, GO:0030501, GO:0030154, GO:0010628, GO:0009792, GO:0009790, GO:0008284, GO:0006357, GO:0002062, GO:0001823, GO:0001656, GO:0001655, GO:0000122, embryonic skeletal joint development, eyelid development in camera-type eye, bone morphogenesis, head development, embryonic skeletal joint morphogenesis, roof of mouth development, positive regulation of epithelial cell proliferation, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, embryonic digit morphogenesis, odontogenesis, middle ear morphogenesis, embryonic skeletal limb joint morphogenesis, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, osteoblast proliferation, positive regulation of bone mineralization, cell differentiation, positive regulation of gene expression, embryo development ending in birth or egg hatching, embryo development, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, chondrocyte differentiation, mesonephros development, metanephros development, urogenital system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000164924 chr8 100916525 100953388 - YWHAZ protein_coding This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]. 7534 GO:0098978, GO:0098978, GO:0098686, GO:0072562, GO:0070062, GO:0042470, GO:0031982, GO:0005925, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005615, glutamatergic synapse, glutamatergic synapse, hippocampal mossy fiber to CA3 synapse, blood microparticle, extracellular exosome, melanosome, vesicle, focal adhesion, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, extracellular space, GO:0045296, GO:0044325, GO:0042802, GO:0031625, GO:0019904, GO:0019901, GO:0008134, GO:0005515, GO:0003723, cadherin binding, ion channel binding, identical protein binding, ubiquitin protein ligase binding, protein domain specific binding, protein kinase binding, transcription factor binding, protein binding, RNA binding, GO:1900740, GO:0090168, GO:0090128, GO:0090128, GO:0070372, GO:0061024, GO:0051683, GO:0043488, GO:0043066, GO:0030168, GO:0019221, GO:0008039, GO:0007165, GO:0006605, GO:0006468, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, Golgi reassembly, regulation of synapse maturation, regulation of synapse maturation, regulation of ERK1 and ERK2 cascade, membrane organization, establishment of Golgi localization, regulation of mRNA stability, negative regulation of apoptotic process, platelet activation, cytokine-mediated signaling pathway, synaptic target recognition, signal transduction, protein targeting, protein phosphorylation, 13571 12509 17390 10635 13240 13681 11103 10626 10893 ENSG00000164929 chr8 103140710 103230305 + BAALC protein_coding This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]. 79870 GO:0045121, GO:0043005, GO:0014069, GO:0005829, GO:0005737, GO:0005737, GO:0005654, membrane raft, neuron projection, postsynaptic density, cytosol, cytoplasm, cytoplasm, nucleoplasm, 0 1 0 0 2 0 0 1 0 ENSG00000164930 chr8 103298433 103332866 + FZD6 protein_coding This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]. 8323 GO:0030659, GO:0016327, GO:0016324, GO:0016021, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005789, cytoplasmic vesicle membrane, apicolateral plasma membrane, apical plasma membrane, integral component of membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0042813, GO:0042813, GO:0042813, GO:0031625, GO:0017147, GO:0017147, GO:0017147, GO:0005515, GO:0004930, GO:0001540, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, ubiquitin protein ligase binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, protein binding, G protein-coupled receptor activity, amyloid-beta binding, GO:1904693, GO:0090090, GO:0060071, GO:0060070, GO:0048105, GO:0043433, GO:0042472, GO:0035880, GO:0035567, GO:0035567, GO:0033278, GO:0030168, GO:0007223, GO:0007186, GO:0001942, GO:0001843, midbrain morphogenesis, negative regulation of canonical Wnt signaling pathway, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, establishment of body hair planar orientation, negative regulation of DNA-binding transcription factor activity, inner ear morphogenesis, embryonic nail plate morphogenesis, non-canonical Wnt signaling pathway, non-canonical Wnt signaling pathway, cell proliferation in midbrain, platelet activation, Wnt signaling pathway, calcium modulating pathway, G protein-coupled receptor signaling pathway, hair follicle development, neural tube closure, 8 3 5 4 2 5 5 0 11 ENSG00000164932 chr8 103371515 103382997 + CTHRC1 protein_coding This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]. 115908 GO:0062023, GO:0005737, GO:0005615, GO:0005581, GO:0005576, collagen-containing extracellular matrix, cytoplasm, extracellular space, collagen trimer, extracellular region, GO:0017147, GO:0005201, GO:0005109, Wnt-protein binding, extracellular matrix structural constituent, frizzled binding, GO:0090177, GO:0090103, GO:0090090, GO:0060122, GO:0060071, GO:0045669, GO:0043932, GO:0033690, GO:0032092, GO:0016477, establishment of planar polarity involved in neural tube closure, cochlea morphogenesis, negative regulation of canonical Wnt signaling pathway, inner ear receptor cell stereocilium organization, Wnt signaling pathway, planar cell polarity pathway, positive regulation of osteoblast differentiation, ossification involved in bone remodeling, positive regulation of osteoblast proliferation, positive regulation of protein binding, cell migration, 2 0 2 1 0 0 0 0 0 ENSG00000164933 chr8 103398635 103415189 - SLC25A32 protein_coding This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]. 81034 GO:0016021, GO:0005743, GO:0005743, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0015230, GO:0008517, GO:0008517, GO:0008517, GO:0008517, FAD transmembrane transporter activity, folic acid transmembrane transporter activity, folic acid transmembrane transporter activity, folic acid transmembrane transporter activity, folic acid transmembrane transporter activity, GO:1990548, GO:1904947, GO:1904947, GO:0046655, GO:0015884, mitochondrial FAD transmembrane transport, folate import into mitochondrion, folate import into mitochondrion, folic acid metabolic process, folic acid transport, 23 19 28 24 11 31 40 14 22 ENSG00000164934 chr8 103414714 103443453 + DCAF13 protein_coding 25879 GO:0080008, GO:0080008, GO:0032040, GO:0030054, GO:0005829, GO:0005813, GO:0005730, GO:0005730, GO:0005654, GO:0005654, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, small-subunit processome, cell junction, cytosol, centrosome, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0030331, GO:0005515, GO:0003723, estrogen receptor binding, protein binding, RNA binding, GO:0043687, GO:0016567, GO:0006364, GO:0000462, post-translational protein modification, protein ubiquitination, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 109 77 122 154 100 165 135 82 100 ENSG00000164935 chr8 104339087 104356689 + DCSTAMP protein_coding This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 81501 GO:0033116, GO:0030176, GO:0016021, GO:0010008, GO:0009986, GO:0009986, GO:0005886, GO:0005789, GO:0005789, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of endoplasmic reticulum membrane, integral component of membrane, endosome membrane, cell surface, cell surface, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0072675, GO:0071356, GO:0071353, GO:0061025, GO:0045780, GO:0045657, GO:0043011, GO:0036006, GO:0034241, GO:0030316, GO:0030308, osteoclast fusion, cellular response to tumor necrosis factor, cellular response to interleukin-4, membrane fusion, positive regulation of bone resorption, positive regulation of monocyte differentiation, myeloid dendritic cell differentiation, cellular response to macrophage colony-stimulating factor stimulus, positive regulation of macrophage fusion, osteoclast differentiation, negative regulation of cell growth, 0 0 0 0 6 40 0 1 11 ENSG00000164938 chr8 94925972 94949411 - TP53INP1 protein_coding 94241 GO:0031410, GO:0016605, GO:0005829, GO:0005776, GO:0005776, GO:0005654, GO:0005634, GO:0005634, cytoplasmic vesicle, PML body, cytosol, autophagosome, autophagosome, nucleoplasm, nucleus, nucleus, GO:0016209, GO:0005515, antioxidant activity, protein binding, GO:1904761, GO:1901796, GO:0098869, GO:0072703, GO:0071447, GO:0071361, GO:0048147, GO:0048102, GO:0045893, GO:0045893, GO:0043065, GO:0042981, GO:0034644, GO:0030336, GO:0010629, GO:0010508, GO:0009408, GO:0008285, GO:0007050, GO:0006915, GO:0000045, negative regulation of myofibroblast differentiation, regulation of signal transduction by p53 class mediator, cellular oxidant detoxification, cellular response to methyl methanesulfonate, cellular response to hydroperoxide, cellular response to ethanol, negative regulation of fibroblast proliferation, autophagic cell death, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of apoptotic process, regulation of apoptotic process, cellular response to UV, negative regulation of cell migration, negative regulation of gene expression, positive regulation of autophagy, response to heat, negative regulation of cell population proliferation, cell cycle arrest, apoptotic process, autophagosome assembly, 2427 2739 2489 953 2077 1621 1470 1689 1695 ENSG00000164941 chr8 94813311 94881746 + INTS8 protein_coding This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 55656 GO:0032039, GO:0032039, GO:0005654, integrator complex, integrator complex, nucleoplasm, GO:0005515, protein binding, GO:0042795, GO:0034472, GO:0016180, snRNA transcription by RNA polymerase II, snRNA 3'-end processing, snRNA processing, 512 475 536 511 710 577 431 475 449 ENSG00000164944 chr8 94487693 94553529 - VIRMA protein_coding 25962 GO:0036396, GO:0036396, GO:0016607, GO:0016604, GO:0005829, GO:0005654, RNA N6-methyladenosine methyltransferase complex, RNA N6-methyladenosine methyltransferase complex, nuclear speck, nuclear body, cytosol, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0110104, GO:0080009, GO:0080009, GO:0008380, GO:0007275, GO:0006397, mRNA alternative polyadenylation, mRNA methylation, mRNA methylation, RNA splicing, multicellular organism development, mRNA processing, 397 323 336 240 230 228 302 204 243 ENSG00000164946 chr9 14734666 14910995 - FREM1 protein_coding This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]. 158326 GO:0016021, GO:0005604, integral component of membrane, basement membrane, GO:0046872, GO:0030246, GO:0005515, metal ion binding, carbohydrate binding, protein binding, GO:0097094, GO:0007160, GO:0007154, craniofacial suture morphogenesis, cell-matrix adhesion, cell communication, 0 0 0 1 0 0 2 0 0 ENSG00000164949 chr8 94249253 94262350 - GEM protein_coding The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 2669 GO:0072686, GO:0051233, GO:0030496, GO:0009898, GO:0005886, GO:0005634, mitotic spindle, spindle midzone, midbody, cytoplasmic side of plasma membrane, plasma membrane, nucleus, GO:0019003, GO:0005525, GO:0005525, GO:0005516, GO:0005515, GO:0005246, GO:0003924, GO:0000287, GDP binding, GTP binding, GTP binding, calmodulin binding, protein binding, calcium channel regulator activity, GTPase activity, magnesium ion binding, GO:1901842, GO:0051310, GO:0051276, GO:0007166, GO:0007165, GO:0006955, GO:0000278, negative regulation of high voltage-gated calcium channel activity, metaphase plate congression, chromosome organization, cell surface receptor signaling pathway, signal transduction, immune response, mitotic cell cycle, 1 0 0 102 15 63 92 29 51 ENSG00000164951 chr8 93857807 93926066 + PDP1 protein_coding Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]. 54704 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0046872, GO:0005515, GO:0004741, GO:0004724, GO:0004722, metal ion binding, protein binding, [pyruvate dehydrogenase (lipoamide)] phosphatase activity, magnesium-dependent protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:1904184, GO:0035970, GO:0010510, GO:0006470, positive regulation of pyruvate dehydrogenase activity, peptidyl-threonine dephosphorylation, regulation of acetyl-CoA biosynthetic process from pyruvate, protein dephosphorylation, 100 91 126 205 132 205 208 102 144 ENSG00000164953 chr8 93754844 93819234 + TMEM67 protein_coding The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]. 91147 GO:0060170, GO:0060170, GO:0036038, GO:0035869, GO:0035869, GO:0030659, GO:0016021, GO:0005813, GO:0005789, ciliary membrane, ciliary membrane, MKS complex, ciliary transition zone, ciliary transition zone, cytoplasmic vesicle membrane, integral component of membrane, centrosome, endoplasmic reticulum membrane, GO:0051082, GO:0031005, GO:0005515, unfolded protein binding, filamin binding, protein binding, GO:0097711, GO:0060271, GO:0060271, GO:0060271, GO:0030433, GO:0010826, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, cilium assembly, ubiquitin-dependent ERAD pathway, negative regulation of centrosome duplication, 12 2 17 11 4 8 16 8 15 ENSG00000164961 chr8 125024260 125091840 - WASHC5 protein_coding This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]. 9897 GO:0071203, GO:0071203, GO:0043025, GO:0043005, GO:0005829, GO:0005783, GO:0005769, GO:0005768, GO:0005654, WASH complex, WASH complex, neuronal cell body, neuron projection, cytosol, endoplasmic reticulum, early endosome, endosome, nucleoplasm, GO:0005515, protein binding, GO:0140285, GO:0097494, GO:0090306, GO:0051125, GO:0051125, GO:0043933, GO:0040038, GO:0034629, GO:0030041, GO:0016197, GO:0015031, GO:0010976, GO:0007040, GO:0007032, GO:0001556, endosome fission, regulation of vesicle size, spindle assembly involved in meiosis, regulation of actin nucleation, regulation of actin nucleation, protein-containing complex subunit organization, polar body extrusion after meiotic divisions, cellular protein-containing complex localization, actin filament polymerization, endosomal transport, protein transport, positive regulation of neuron projection development, lysosome organization, endosome organization, oocyte maturation, 185 201 239 222 300 225 231 199 179 ENSG00000164967 chr9 34610486 34612104 - RPP25L protein_coding This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 138716 GO:0005634, GO:0000172, nucleus, ribonuclease MRP complex, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0001682, tRNA 5'-leader removal, 39 49 32 25 41 43 41 31 23 ENSG00000164970 chr9 34398184 34458570 - FAM219A protein_coding The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]. 203259 196 207 193 207 210 206 228 160 192 ENSG00000164972 chr9 34379019 34397832 - C9orf24 protein_coding This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 84688 GO:0048471, GO:0048471, GO:0005634, GO:0005634, GO:0002177, GO:0002177, perinuclear region of cytoplasm, perinuclear region of cytoplasm, nucleus, nucleus, manchette, manchette, GO:0043014, GO:0005515, alpha-tubulin binding, protein binding, GO:0034622, GO:0030154, GO:0007283, cellular protein-containing complex assembly, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000164975 chr9 15422704 15465953 + SNAPC3 protein_coding 6619 GO:0019185, GO:0016604, GO:0005730, GO:0005654, GO:0005654, GO:0005634, snRNA-activating protein complex, nuclear body, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003681, GO:0003677, GO:0001046, GO:0001006, GO:0000995, GO:0000978, protein binding, bent DNA binding, DNA binding, core promoter sequence-specific DNA binding, RNA polymerase III type 3 promoter sequence-specific DNA binding, RNA polymerase III general transcription initiation factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0042796, GO:0042795, GO:0042795, GO:0009301, GO:0006383, GO:0006366, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, snRNA transcription, transcription by RNA polymerase III, transcription by RNA polymerase II, 61 33 58 128 76 121 65 58 45 ENSG00000164976 chr9 34366670 34376853 - MYORG protein_coding 57462 GO:0031965, GO:0016021, GO:0005789, nuclear membrane, integral component of membrane, endoplasmic reticulum membrane, GO:0004553, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0051897, GO:0048741, GO:0048741, GO:0048741, GO:0043568, GO:0005975, positive regulation of protein kinase B signaling, skeletal muscle fiber development, skeletal muscle fiber development, skeletal muscle fiber development, positive regulation of insulin-like growth factor receptor signaling pathway, carbohydrate metabolic process, 0 0 6 5 2 5 5 1 5 ENSG00000164978 chr9 34329506 34343713 + NUDT2 protein_coding This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]. 318 GO:0005759, mitochondrial matrix, GO:0008803, GO:0005525, GO:0005515, GO:0004081, GO:0004081, GO:0004081, bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity, GTP binding, protein binding, bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity, bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity, bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity, GO:0034599, GO:0006915, GO:0006754, GO:0006167, GO:0006139, cellular response to oxidative stress, apoptotic process, ATP biosynthetic process, AMP biosynthetic process, nucleobase-containing compound metabolic process, 20 25 23 13 26 25 13 27 14 ENSG00000164983 chr8 124306189 124372692 - TMEM65 protein_coding 157378 GO:0016021, GO:0014704, GO:0005886, GO:0005743, integral component of membrane, intercalated disc, plasma membrane, mitochondrial inner membrane, GO:0005515, protein binding, GO:1903779, GO:0003231, regulation of cardiac conduction, cardiac ventricle development, 692 651 648 382 616 555 492 478 437 ENSG00000164985 chr9 15464066 15511019 - PSIP1 protein_coding 11168 GO:0035327, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, transcriptionally active chromatin, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0097100, GO:0005515, GO:0003723, GO:0003712, GO:0003690, supercoiled DNA binding, protein binding, RNA binding, transcription coregulator activity, double-stranded DNA binding, GO:0075713, GO:0051169, GO:0009408, GO:0006979, GO:0006357, GO:0000395, establishment of integrated proviral latency, nuclear transport, response to heat, response to oxidative stress, regulation of transcription by RNA polymerase II, mRNA 5'-splice site recognition, 517 381 509 651 505 758 628 457 554 ENSG00000164989 chr9 15553086 16061663 + CCDC171 protein_coding 203238 5 2 4 3 0 22 6 3 2 ENSG00000165006 chr9 34179005 34252523 + UBAP1 protein_coding This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 51271 GO:0043657, GO:0043231, GO:0010008, GO:0005886, GO:0005829, GO:0005737, GO:0000813, GO:0000813, host cell, intracellular membrane-bounded organelle, endosome membrane, plasma membrane, cytosol, cytoplasm, ESCRT I complex, ESCRT I complex, GO:0043130, GO:0043130, GO:0005515, ubiquitin binding, ubiquitin binding, protein binding, GO:0075733, GO:0043162, GO:0043162, GO:0019058, GO:0016197, GO:0015031, intracellular transport of virus, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, viral life cycle, endosomal transport, protein transport, 3674 2810 5338 1398 1465 1772 1388 1245 1341 ENSG00000165023 chr9 90609832 90643105 - DIRAS2 protein_coding DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]. 54769 GO:0005886, GO:0005886, plasma membrane, plasma membrane, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:0043406, GO:0007165, positive regulation of MAP kinase activity, signal transduction, 0 0 0 0 0 4 0 0 0 ENSG00000165025 chr9 90801787 90898549 + SYK protein_coding This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 6850 GO:0042101, GO:0032991, GO:0032009, GO:0031234, GO:0019815, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005634, T cell receptor complex, protein-containing complex, early phagosome, extrinsic component of cytoplasmic side of plasma membrane, B cell receptor complex, plasma membrane, cytosol, cytosol, cytoplasm, nucleus, GO:0042169, GO:0035325, GO:0019902, GO:0019901, GO:0016170, GO:0005524, GO:0005515, GO:0005178, GO:0005102, GO:0004715, GO:0004715, GO:0004715, GO:0004713, GO:0004713, GO:0004713, GO:0004674, GO:0004672, GO:0004672, GO:0001784, GO:0001784, SH2 domain binding, Toll-like receptor binding, phosphatase binding, protein kinase binding, interleukin-15 receptor binding, ATP binding, protein binding, integrin binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, phosphotyrosine residue binding, phosphotyrosine residue binding, GO:0120162, GO:0090330, GO:0090330, GO:0090237, GO:0071639, GO:0071404, GO:0071226, GO:0070372, GO:0051712, GO:0051090, GO:0050853, GO:0050853, GO:0050850, GO:0050764, GO:0050731, GO:0048514, GO:0046641, GO:0046638, GO:0045780, GO:0045588, GO:0045579, GO:0045579, GO:0045087, GO:0045087, GO:0043366, GO:0043313, GO:0043306, GO:0043280, GO:0042742, GO:0042127, GO:0038156, GO:0038110, GO:0038096, GO:0038095, GO:0038083, GO:0038063, GO:0033630, GO:0033630, GO:0032930, GO:0032928, GO:0032760, GO:0032757, GO:0032755, GO:0032753, GO:0032752, GO:0032735, GO:0032733, GO:0032725, GO:0032481, GO:0031623, GO:0031334, GO:0030593, GO:0030168, GO:0030154, GO:0019370, GO:0018108, GO:0018105, GO:0016032, GO:0010803, GO:0010543, GO:0009887, GO:0007257, GO:0007229, GO:0007229, GO:0007169, GO:0007159, GO:0006606, GO:0006468, GO:0002554, GO:0002366, GO:0002283, GO:0002283, GO:0002281, GO:0002281, GO:0002250, GO:0002250, GO:0002223, GO:0002092, GO:0001945, GO:0001819, GO:0001525, positive regulation of cold-induced thermogenesis, regulation of platelet aggregation, regulation of platelet aggregation, regulation of arachidonic acid secretion, positive regulation of monocyte chemotactic protein-1 production, cellular response to low-density lipoprotein particle stimulus, cellular response to molecule of fungal origin, regulation of ERK1 and ERK2 cascade, positive regulation of killing of cells of other organism, regulation of DNA-binding transcription factor activity, B cell receptor signaling pathway, B cell receptor signaling pathway, positive regulation of calcium-mediated signaling, regulation of phagocytosis, positive regulation of peptidyl-tyrosine phosphorylation, blood vessel morphogenesis, positive regulation of alpha-beta T cell proliferation, positive regulation of alpha-beta T cell differentiation, positive regulation of bone resorption, positive regulation of gamma-delta T cell differentiation, positive regulation of B cell differentiation, positive regulation of B cell differentiation, innate immune response, innate immune response, beta selection, regulation of neutrophil degranulation, positive regulation of mast cell degranulation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, defense response to bacterium, regulation of cell population proliferation, interleukin-3-mediated signaling pathway, interleukin-2-mediated signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, peptidyl-tyrosine autophosphorylation, collagen-activated tyrosine kinase receptor signaling pathway, positive regulation of cell adhesion mediated by integrin, positive regulation of cell adhesion mediated by integrin, positive regulation of superoxide anion generation, regulation of superoxide anion generation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-4 production, positive regulation of interleukin-3 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of granulocyte macrophage colony-stimulating factor production, positive regulation of type I interferon production, receptor internalization, positive regulation of protein-containing complex assembly, neutrophil chemotaxis, platelet activation, cell differentiation, leukotriene biosynthetic process, peptidyl-tyrosine phosphorylation, peptidyl-serine phosphorylation, viral process, regulation of tumor necrosis factor-mediated signaling pathway, regulation of platelet activation, animal organ morphogenesis, activation of JUN kinase activity, integrin-mediated signaling pathway, integrin-mediated signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, leukocyte cell-cell adhesion, protein import into nucleus, protein phosphorylation, serotonin secretion by platelet, leukocyte activation involved in immune response, neutrophil activation involved in immune response, neutrophil activation involved in immune response, macrophage activation involved in immune response, macrophage activation involved in immune response, adaptive immune response, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, positive regulation of receptor internalization, lymph vessel development, positive regulation of cytokine production, angiogenesis, 3170 3565 3473 1316 2773 1854 1777 2365 1628 ENSG00000165028 chr9 104764157 104777457 + NIPSNAP3B protein_coding NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]. 55335 GO:0005739, mitochondrion, 3 7 5 3 1 7 0 3 6 ENSG00000165029 chr9 104781002 104928237 - ABCA1 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]. 19 GO:0097708, GO:0048471, GO:0045335, GO:0045121, GO:0043231, GO:0030139, GO:0016323, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005789, GO:0005768, intracellular vesicle, perinuclear region of cytoplasm, phagocytic vesicle, membrane raft, intracellular membrane-bounded organelle, endocytic vesicle, basolateral plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endosome, GO:0140328, GO:0120020, GO:0090556, GO:0090556, GO:0090554, GO:0090554, GO:0051117, GO:0046623, GO:0042626, GO:0034188, GO:0034186, GO:0034185, GO:0031267, GO:0031210, GO:0019905, GO:0016887, GO:0015485, GO:0008320, GO:0008035, GO:0005548, GO:0005524, GO:0005515, GO:0005319, GO:0005102, floppase activity, cholesterol transfer activity, phosphatidylserine floppase activity, phosphatidylserine floppase activity, phosphatidylcholine floppase activity, phosphatidylcholine floppase activity, ATPase binding, sphingolipid floppase activity, ATPase-coupled transmembrane transporter activity, apolipoprotein A-I receptor activity, apolipoprotein A-I binding, apolipoprotein binding, small GTPase binding, phosphatidylcholine binding, syntaxin binding, ATPase activity, cholesterol binding, protein transmembrane transporter activity, high-density lipoprotein particle binding, phospholipid transporter activity, ATP binding, protein binding, lipid transporter activity, signaling receptor binding, GO:0140115, GO:0120009, GO:0099039, GO:0090108, GO:0090107, GO:0071806, GO:0071404, GO:0071397, GO:0071345, GO:0071300, GO:0071222, GO:0060155, GO:0055091, GO:0045332, GO:0043691, GO:0042632, GO:0042632, GO:0038027, GO:0035690, GO:0034616, GO:0034380, GO:0034380, GO:0033700, GO:0033700, GO:0033700, GO:0033700, GO:0033344, GO:0033344, GO:0033344, GO:0032611, GO:0032611, GO:0032489, GO:0032367, GO:0023061, GO:0019216, GO:0016197, GO:0010887, GO:0010875, GO:0010745, GO:0008203, GO:0007584, GO:0007189, GO:0007186, GO:0007040, GO:0006911, GO:0006869, GO:0006497, GO:0002790, export across plasma membrane, intermembrane lipid transfer, sphingolipid translocation, positive regulation of high-density lipoprotein particle assembly, regulation of high-density lipoprotein particle assembly, protein transmembrane transport, cellular response to low-density lipoprotein particle stimulus, cellular response to cholesterol, cellular response to cytokine stimulus, cellular response to retinoic acid, cellular response to lipopolysaccharide, platelet dense granule organization, phospholipid homeostasis, phospholipid translocation, reverse cholesterol transport, cholesterol homeostasis, cholesterol homeostasis, apolipoprotein A-I-mediated signaling pathway, cellular response to drug, response to laminar fluid shear stress, high-density lipoprotein particle assembly, high-density lipoprotein particle assembly, phospholipid efflux, phospholipid efflux, phospholipid efflux, phospholipid efflux, cholesterol efflux, cholesterol efflux, cholesterol efflux, interleukin-1 beta production, interleukin-1 beta production, regulation of Cdc42 protein signal transduction, intracellular cholesterol transport, signal release, regulation of lipid metabolic process, endosomal transport, negative regulation of cholesterol storage, positive regulation of cholesterol efflux, negative regulation of macrophage derived foam cell differentiation, cholesterol metabolic process, response to nutrient, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, lysosome organization, phagocytosis, engulfment, lipid transport, protein lipidation, peptide secretion, 1585 2380 3703 900 2126 2227 1117 1429 2042 ENSG00000165030 chr9 91409045 91423862 - NFIL3 protein_coding The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses PER1 and PER2 expression and therefore plays a role in the regulation of circadian rhythm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]. 4783 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000978, GO:0000977, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071353, GO:0045893, GO:0045892, GO:0045892, GO:0007623, GO:0006955, GO:0006366, GO:0006355, GO:0000122, cellular response to interleukin-4, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, circadian rhythm, immune response, transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 4245 3376 5619 1412 1750 2217 1794 1540 2215 ENSG00000165046 chr8 38386207 38409527 + LETM2 protein_coding 137994 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0043022, ribosome binding, GO:0006875, cellular metal ion homeostasis, 140 127 203 111 146 157 174 124 105 ENSG00000165055 chr7 128476729 128506602 + METTL2B protein_coding This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 55798 GO:0052735, GO:0052735, GO:0016427, tRNA (cytosine-3-)-methyltransferase activity, tRNA (cytosine-3-)-methyltransferase activity, tRNA (cytosine) methyltransferase activity, GO:0030488, tRNA methylation, 14 17 12 18 10 57 29 15 17 ENSG00000165059 chr9 69012529 69014113 - PRKACG protein_coding Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008]. 5568 GO:0097546, GO:0045171, GO:0005829, GO:0005829, GO:0005654, GO:0005634, ciliary base, intercellular bridge, cytosol, cytosol, nucleoplasm, nucleus, GO:0034237, GO:0005524, GO:0005515, GO:0004691, GO:0004679, protein kinase A regulatory subunit binding, ATP binding, protein binding, cAMP-dependent protein kinase activity, AMP-activated protein kinase activity, GO:0071377, GO:0034380, GO:0034199, GO:0010737, GO:0008584, GO:0007596, GO:0007283, GO:0006468, GO:0003091, GO:0002223, cellular response to glucagon stimulus, high-density lipoprotein particle assembly, activation of protein kinase A activity, protein kinase A signaling, male gonad development, blood coagulation, spermatogenesis, protein phosphorylation, renal water homeostasis, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000165060 chr9 69035259 69120427 + FXN protein_coding This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 2395 GO:1990221, GO:0005829, GO:0005759, GO:0005759, GO:0005759, GO:0005739, GO:0005739, L-cysteine desulfurase complex, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, GO:0051537, GO:0051537, GO:0034986, GO:0034986, GO:0008199, GO:0008199, GO:0008198, GO:0008198, GO:0005515, GO:0004322, GO:0004322, 2 iron, 2 sulfur cluster binding, 2 iron, 2 sulfur cluster binding, iron chaperone activity, iron chaperone activity, ferric iron binding, ferric iron binding, ferrous iron binding, ferrous iron binding, protein binding, ferroxidase activity, ferroxidase activity, GO:1904234, GO:1904231, GO:0090201, GO:0070301, GO:0051349, GO:0051349, GO:0046621, GO:0044281, GO:0043085, GO:0043066, GO:0040015, GO:0030307, GO:0019230, GO:0018283, GO:0018283, GO:0016540, GO:0016226, GO:0010722, GO:0010039, GO:0009792, GO:0009060, GO:0008284, GO:0007628, GO:0006879, GO:0006879, GO:0006811, GO:0006783, GO:0006119, positive regulation of aconitate hydratase activity, positive regulation of succinate dehydrogenase activity, negative regulation of release of cytochrome c from mitochondria, cellular response to hydrogen peroxide, positive regulation of lyase activity, positive regulation of lyase activity, negative regulation of organ growth, small molecule metabolic process, positive regulation of catalytic activity, negative regulation of apoptotic process, negative regulation of multicellular organism growth, positive regulation of cell growth, proprioception, iron incorporation into metallo-sulfur cluster, iron incorporation into metallo-sulfur cluster, protein autoprocessing, iron-sulfur cluster assembly, regulation of ferrochelatase activity, response to iron ion, embryo development ending in birth or egg hatching, aerobic respiration, positive regulation of cell population proliferation, adult walking behavior, cellular iron ion homeostasis, cellular iron ion homeostasis, ion transport, heme biosynthetic process, oxidative phosphorylation, 0 8 8 17 6 35 19 7 19 ENSG00000165061 chr8 40530590 40897833 - ZMAT4 protein_coding 79698 GO:0005634, nucleus, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000165066 chr8 41645178 41650669 - NKX6-3 protein_coding The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM, Mar 2008]. 157848 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0043565, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030154, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, cell differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 1 0 ENSG00000165071 chr8 132685007 132760712 - TMEM71 protein_coding 137835 GO:0016021, GO:0005739, integral component of membrane, mitochondrion, 4560 4577 5702 2801 4479 3465 3244 3406 3113 ENSG00000165072 chr9 70043581 70226970 + MAMDC2 protein_coding 256691 GO:0016020, GO:0005783, GO:0005576, membrane, endoplasmic reticulum, extracellular region, GO:0005515, protein binding, 0 0 0 2 0 0 0 0 0 ENSG00000165076 chr7 141836286 141841487 - PRSS37 protein_coding 136242 GO:0043231, GO:0005737, GO:0005634, GO:0005576, GO:0001669, GO:0001669, intracellular membrane-bounded organelle, cytoplasm, nucleus, extracellular region, acrosomal vesicle, acrosomal vesicle, GO:0004252, serine-type endopeptidase activity, GO:2000344, GO:2000344, GO:1905516, GO:0070613, GO:0051604, GO:0016477, GO:0007339, GO:0006508, positive regulation of acrosome reaction, positive regulation of acrosome reaction, positive regulation of fertilization, regulation of protein processing, protein maturation, cell migration, binding of sperm to zona pellucida, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000165078 chr8 67422038 67746385 - CPA6 protein_coding The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]. 57094 GO:0005615, extracellular space, GO:0008270, GO:0004181, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, metallocarboxypeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000165084 chr8 68330722 68819022 + C8orf34 protein_coding This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]. 116328 0 0 0 0 0 0 0 0 0 ENSG00000165091 chr9 72521608 72838230 + TMC1 protein_coding This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]. 117531 GO:0032426, GO:0009897, GO:0005887, stereocilium tip, external side of plasma membrane, integral component of plasma membrane, GO:0008381, GO:0005245, mechanosensitive ion channel activity, voltage-gated calcium channel activity, GO:1903169, GO:0070588, GO:0060117, GO:0060005, GO:0050910, regulation of calcium ion transmembrane transport, calcium ion transmembrane transport, auditory receptor cell development, vestibular reflex, detection of mechanical stimulus involved in sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000165092 chr9 72900662 73080442 - ALDH1A1 protein_coding The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]. 216 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytosol, cytosol, cytoplasm, GO:0051287, GO:0018479, GO:0005515, GO:0005497, GO:0005096, GO:0004029, GO:0004029, GO:0001758, NAD binding, benzaldehyde dehydrogenase (NAD+) activity, protein binding, androgen binding, GTPase activator activity, aldehyde dehydrogenase (NAD+) activity, aldehyde dehydrogenase (NAD+) activity, retinal dehydrogenase activity, GO:0120163, GO:0061624, GO:0055114, GO:0043547, GO:0042572, GO:0006081, GO:0006069, GO:0001523, negative regulation of cold-induced thermogenesis, fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate, oxidation-reduction process, positive regulation of GTPase activity, retinol metabolic process, cellular aldehyde metabolic process, ethanol oxidation, retinoid metabolic process, 2 7 34 7 14 37 3 9 23 ENSG00000165097 chr6 18155329 18223853 + KDM1B protein_coding Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]. 221656 GO:0005654, GO:0005634, GO:0000786, GO:0000785, nucleoplasm, nucleus, nucleosome, chromatin, GO:0071949, GO:0050660, GO:0042393, GO:0034649, GO:0034649, GO:0034648, GO:0034648, GO:0034648, GO:0016491, GO:0008270, GO:0008134, GO:0005515, GO:0003682, FAD binding, flavin adenine dinucleotide binding, histone binding, histone demethylase activity (H3-monomethyl-K4 specific), histone demethylase activity (H3-monomethyl-K4 specific), histone demethylase activity (H3-dimethyl-K4 specific), histone demethylase activity (H3-dimethyl-K4 specific), histone demethylase activity (H3-dimethyl-K4 specific), oxidoreductase activity, zinc ion binding, transcription factor binding, protein binding, chromatin binding, GO:0055114, GO:0045944, GO:0044030, GO:0043046, GO:0034720, GO:0034720, GO:0016579, GO:0007275, GO:0006349, GO:0000122, oxidation-reduction process, positive regulation of transcription by RNA polymerase II, regulation of DNA methylation, DNA methylation involved in gamete generation, histone H3-K4 demethylation, histone H3-K4 demethylation, protein deubiquitination, multicellular organism development, regulation of gene expression by genetic imprinting, negative regulation of transcription by RNA polymerase II, 924 909 1196 440 833 712 613 621 609 ENSG00000165102 chr8 43140455 43202855 + HGSNAT protein_coding This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]. 138050 GO:0070821, GO:0035579, GO:0016021, GO:0005886, GO:0005765, GO:0005765, GO:0005765, GO:0005765, tertiary granule membrane, specific granule membrane, integral component of membrane, plasma membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, GO:0016746, GO:0015019, transferase activity, transferring acyl groups, heparan-alpha-glucosaminide N-acetyltransferase activity, GO:0051259, GO:0043312, GO:0007041, GO:0007041, GO:0006027, protein complex oligomerization, neutrophil degranulation, lysosomal transport, lysosomal transport, glycosaminoglycan catabolic process, 340 370 421 323 391 416 357 296 302 ENSG00000165105 chr9 82979585 83063177 - RASEF protein_coding This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]. 158158 GO:0048471, GO:0005829, perinuclear region of cytoplasm, cytosol, GO:0042802, GO:0019003, GO:0005525, GO:0005509, GO:0003924, identical protein binding, GDP binding, GTP binding, calcium ion binding, GTPase activity, 0 0 0 0 0 0 0 0 0 ENSG00000165113 chr9 83739421 83829516 - GKAP1 protein_coding This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 80318 GO:0005794, Golgi apparatus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0046628, GO:0007165, GO:0007165, positive regulation of insulin receptor signaling pathway, signal transduction, signal transduction, 80 41 84 73 60 96 92 41 61 ENSG00000165115 chr9 83836698 83921465 - KIF27 protein_coding This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012]. 55582 GO:0005929, GO:0005874, GO:0005871, GO:0005737, GO:0005576, cilium, microtubule, kinesin complex, cytoplasm, extracellular region, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0060271, GO:0021591, GO:0007018, GO:0003351, cilium assembly, ventricular system development, microtubule-based movement, epithelial cilium movement involved in extracellular fluid movement, 795 760 913 578 955 1000 814 671 729 ENSG00000165118 chr9 83938311 83956986 - C9orf64 protein_coding 84267 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0101030, GO:0008150, GO:0006400, tRNA-guanine transglycosylation, biological_process, tRNA modification, 20 23 32 10 40 5 12 11 15 ENSG00000165119 chr9 83968083 83980616 - HNRNPK protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]. 3190 GO:0071013, GO:0070062, GO:0042995, GO:0016020, GO:0010494, GO:0005925, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0002102, GO:0000785, catalytic step 2 spliceosome, extracellular exosome, cell projection, membrane, cytoplasmic stress granule, focal adhesion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, podosome, chromatin, GO:0045296, GO:0042802, GO:0019904, GO:0005515, GO:0003729, GO:0003723, GO:0003677, cadherin binding, identical protein binding, protein domain specific binding, protein binding, mRNA binding, RNA binding, DNA binding, GO:1902165, GO:0048260, GO:0048025, GO:0048024, GO:0045944, GO:0043066, GO:0016070, GO:0016032, GO:0010988, GO:0010468, GO:0007165, GO:0006396, GO:0006357, GO:0000398, GO:0000398, regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of receptor-mediated endocytosis, negative regulation of mRNA splicing, via spliceosome, regulation of mRNA splicing, via spliceosome, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, RNA metabolic process, viral process, regulation of low-density lipoprotein particle clearance, regulation of gene expression, signal transduction, RNA processing, regulation of transcription by RNA polymerase II, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 8612 7748 10533 4547 5242 5348 4808 4920 4714 ENSG00000165120 chr7 130206344 130216844 + SSMEM1 protein_coding 136263 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000165121 chr9 85805359 85849542 + AL353743.1 transcribed_unprocessed_pseudogene 33 29 61 40 17 48 47 20 44 ENSG00000165124 chr9 110365251 110579880 - SVEP1 protein_coding 79987 GO:0016020, GO:0005737, GO:0005634, GO:0005615, membrane, cytoplasm, nucleus, extracellular space, GO:0005509, GO:0003682, calcium ion binding, chromatin binding, GO:0120193, GO:0048014, GO:0036303, GO:0010467, GO:0008544, GO:0007155, GO:0003017, tight junction organization, Tie signaling pathway, lymph vessel morphogenesis, gene expression, epidermis development, cell adhesion, lymph circulation, 1 1 1 0 5 0 0 1 3 ENSG00000165125 chr7 142871203 142885762 - TRPV6 protein_coding This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]. 55503 GO:0005887, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0046872, GO:0005516, GO:0005515, GO:0005262, GO:0005262, GO:0005216, metal ion binding, calmodulin binding, protein binding, calcium channel activity, calcium channel activity, ion channel activity, GO:0098703, GO:0098703, GO:0098703, GO:0098703, GO:0070588, GO:0070588, GO:0055074, GO:0051592, GO:0017158, GO:0006816, GO:0006816, GO:0006816, calcium ion import across plasma membrane, calcium ion import across plasma membrane, calcium ion import across plasma membrane, calcium ion import across plasma membrane, calcium ion transmembrane transport, calcium ion transmembrane transport, calcium ion homeostasis, response to calcium ion, regulation of calcium ion-dependent exocytosis, calcium ion transport, calcium ion transport, calcium ion transport, 1 3 0 3 6 5 2 0 0 ENSG00000165131 chr7 142939343 142940868 + LLCFC1 protein_coding 135927 GO:0005576, extracellular region, GO:0007342, fusion of sperm to egg plasma membrane involved in single fertilization, 0 0 0 1 1 0 0 4 0 ENSG00000165138 chr9 98731329 98796965 - ANKS6 protein_coding This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]. 203286 GO:0005929, GO:0005737, cilium, cytoplasm, GO:0005515, protein binding, 5 3 15 30 3 34 15 16 25 ENSG00000165140 chr9 94603133 94640249 - FBP1 protein_coding Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]. 2203 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0048029, GO:0046872, GO:0042802, GO:0042132, GO:0042132, GO:0042132, GO:0016208, GO:0005515, GO:0001085, monosaccharide binding, metal ion binding, identical protein binding, fructose 1,6-bisphosphate 1-phosphatase activity, fructose 1,6-bisphosphate 1-phosphatase activity, fructose 1,6-bisphosphate 1-phosphatase activity, AMP binding, protein binding, RNA polymerase II transcription factor binding, GO:0071286, GO:0046580, GO:0045820, GO:0045820, GO:0035690, GO:0030388, GO:0030308, GO:0016311, GO:0016311, GO:0006111, GO:0006094, GO:0006094, GO:0006094, GO:0006094, GO:0006094, GO:0006002, GO:0006002, GO:0006000, GO:0005986, GO:0000122, cellular response to magnesium ion, negative regulation of Ras protein signal transduction, negative regulation of glycolytic process, negative regulation of glycolytic process, cellular response to drug, fructose 1,6-bisphosphate metabolic process, negative regulation of cell growth, dephosphorylation, dephosphorylation, regulation of gluconeogenesis, gluconeogenesis, gluconeogenesis, gluconeogenesis, gluconeogenesis, gluconeogenesis, fructose 6-phosphate metabolic process, fructose 6-phosphate metabolic process, fructose metabolic process, sucrose biosynthetic process, negative regulation of transcription by RNA polymerase II, 61 62 68 16 74 34 17 32 11 ENSG00000165152 chr9 101473171 101533537 - TMEM246 protein_coding 84302 GO:0016021, GO:0000139, GO:0000139, integral component of membrane, Golgi membrane, Golgi membrane, GO:0016757, GO:0016757, transferase activity, transferring glycosyl groups, transferase activity, transferring glycosyl groups, GO:0006506, GO:0006506, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 0 0 0 0 0 0 0 1 2 ENSG00000165156 chr8 123248451 123275541 - ZHX1 protein_coding The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]. 11244 GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, chromatin, GO:0046982, GO:0046872, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, protein heterodimerization activity, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0045892, GO:0030154, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, cell differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 95 99 108 76 38 85 63 42 54 ENSG00000165164 chrX 35919734 36385319 + CFAP47 protein_coding While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]. 286464 0 0 0 0 0 0 0 0 0 ENSG00000165168 chrX 37780011 37813461 + CYBB protein_coding Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]. 1536 GO:0097038, GO:0070821, GO:0043025, GO:0043020, GO:0043020, GO:0043020, GO:0035579, GO:0030670, GO:0030425, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005791, GO:0005789, GO:0005635, perinuclear endoplasmic reticulum, tertiary granule membrane, neuronal cell body, NADPH oxidase complex, NADPH oxidase complex, NADPH oxidase complex, specific granule membrane, phagocytic vesicle membrane, dendrite, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, rough endoplasmic reticulum, endoplasmic reticulum membrane, nuclear envelope, GO:0050660, GO:0046982, GO:0046872, GO:0020037, GO:0016175, GO:0016175, GO:0009055, GO:0005515, GO:0005244, flavin adenine dinucleotide binding, protein heterodimerization activity, metal ion binding, heme binding, superoxide-generating NAD(P)H oxidase activity, superoxide-generating NAD(P)H oxidase activity, electron transfer activity, protein binding, voltage-gated ion channel activity, GO:1990776, GO:1904845, GO:1904044, GO:0097411, GO:0071361, GO:0071276, GO:0055114, GO:0055114, GO:0055114, GO:0050665, GO:0048010, GO:0045766, GO:0045730, GO:0045730, GO:0045454, GO:0045087, GO:0045087, GO:0045087, GO:0043312, GO:0042554, GO:0042554, GO:0042554, GO:0042493, GO:0034765, GO:0034599, GO:0034220, GO:0022900, GO:0007584, GO:0006954, GO:0006952, GO:0006801, GO:0006801, GO:0002479, response to angiotensin, cellular response to L-glutamine, response to aldosterone, hypoxia-inducible factor-1alpha signaling pathway, cellular response to ethanol, cellular response to cadmium ion, oxidation-reduction process, oxidation-reduction process, oxidation-reduction process, hydrogen peroxide biosynthetic process, vascular endothelial growth factor receptor signaling pathway, positive regulation of angiogenesis, respiratory burst, respiratory burst, cell redox homeostasis, innate immune response, innate immune response, innate immune response, neutrophil degranulation, superoxide anion generation, superoxide anion generation, superoxide anion generation, response to drug, regulation of ion transmembrane transport, cellular response to oxidative stress, ion transmembrane transport, electron transport chain, response to nutrient, inflammatory response, defense response, superoxide metabolic process, superoxide metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 569 779 1644 253 568 471 257 428 420 ENSG00000165169 chrX 37836757 37847637 - DYNLT3 protein_coding This gene encodes a member of a subclass of dynein light chains. The encoded protein homodimerizes and forms the light chain component of the cytoplasmic dynein motor protein complex. This protein may be important for binding dynein to specific cargos including the spindle checkpoint protein BUB3. This protein may also function independently of dynein as a transcriptional modulator. Pseudogenes of this gene are found on chromosomes 2 and 20.[provided by RefSeq, Mar 2010]. 6990 GO:0061673, GO:0005868, GO:0005634, GO:0000777, GO:0000776, mitotic spindle astral microtubule, cytoplasmic dynein complex, nucleus, condensed chromosome kinetochore, kinetochore, GO:0042802, GO:0005515, GO:0003774, identical protein binding, protein binding, motor activity, GO:0051301, GO:0045931, GO:0007346, GO:0007049, cell division, positive regulation of mitotic cell cycle, regulation of mitotic cell cycle, cell cycle, 105 97 349 124 102 180 112 49 109 ENSG00000165171 chr7 73834590 73842535 - METTL27 protein_coding This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]. 155368 GO:0008168, GO:0005515, methyltransferase activity, protein binding, GO:0006744, ubiquinone biosynthetic process, 0 1 0 2 0 0 0 0 0 ENSG00000165175 chrX 38801432 38806537 + MID1IP1 protein_coding 58526 GO:0015630, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005634, microtubule cytoskeleton, microtubule, cytosol, cytosol, cytosol, nucleus, GO:0042802, GO:0008022, GO:0005515, identical protein binding, protein C-terminus binding, protein binding, GO:0051351, GO:0051258, GO:0046890, GO:0046890, GO:0045723, GO:0007026, GO:0006853, GO:0006629, positive regulation of ligase activity, protein polymerization, regulation of lipid biosynthetic process, regulation of lipid biosynthetic process, positive regulation of fatty acid biosynthetic process, negative regulation of microtubule depolymerization, carnitine shuttle, lipid metabolic process, 1569 1828 3110 350 1189 865 595 1163 844 ENSG00000165178 chr7 75156639 75172044 - NCF1C unprocessed_pseudogene The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009]. 654817 GO:0005737, cytoplasm, GO:0043325, GO:0032266, GO:0016176, GO:0016175, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, superoxide-generating NADPH oxidase activator activity, superoxide-generating NAD(P)H oxidase activity, GO:0055114, GO:0045730, GO:0043085, GO:0006801, oxidation-reduction process, respiratory burst, positive regulation of catalytic activity, superoxide metabolic process, 4189 3302 6736 2484 4366 3455 2660 3238 2933 ENSG00000165181 chr9 111686173 111795008 - C9orf84 protein_coding 158401 GO:0000794, GO:0000794, condensed nuclear chromosome, condensed nuclear chromosome, GO:0016887, GO:0016887, GO:0003697, GO:0003697, ATPase activity, ATPase activity, single-stranded DNA binding, single-stranded DNA binding, GO:0000712, GO:0000712, resolution of meiotic recombination intermediates, resolution of meiotic recombination intermediates, 70 37 61 73 66 92 57 37 46 ENSG00000165182 chrX 23907801 23939509 + CXorf58 protein_coding 254158 5 4 2 5 5 4 0 8 0 ENSG00000165185 chr9 112486847 112669397 + KIAA1958 protein_coding 158405 GO:0005515, protein binding, 63 43 35 39 54 45 33 28 32 ENSG00000165186 chrX 23334016 23404372 + PTCHD1 protein_coding This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]. 139411 GO:0045202, GO:0016021, GO:0016020, GO:0005886, GO:0005886, synapse, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0003674, molecular_function, GO:0098977, GO:0098976, GO:0050890, GO:0050890, GO:0035176, GO:0021794, GO:0007616, GO:0007614, GO:0007268, GO:0007224, inhibitory chemical synaptic transmission, excitatory chemical synaptic transmission, cognition, cognition, social behavior, thalamus development, long-term memory, short-term memory, chemical synaptic transmission, smoothened signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000165188 chr9 113297093 113303376 - RNF183 protein_coding 138065 GO:0033106, GO:0030176, GO:0005783, GO:0005765, cis-Golgi network membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum, lysosomal membrane, GO:0061630, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:1902237, GO:0051865, GO:0034976, GO:0006915, GO:0000209, GO:0000209, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, protein autoubiquitination, response to endoplasmic reticulum stress, apoptotic process, protein polyubiquitination, protein polyubiquitination, 0 0 0 0 1 0 0 0 5 ENSG00000165192 chrX 15281697 15315656 - ASB11 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 140456 GO:0005829, GO:0005783, cytosol, endoplasmic reticulum, GO:0045732, GO:0043687, GO:0035556, GO:0016567, GO:0016567, positive regulation of protein catabolic process, post-translational protein modification, intracellular signal transduction, protein ubiquitination, protein ubiquitination, 0 0 0 0 0 0 2 0 0 ENSG00000165194 chrX 100291644 100410273 - PCDH19 protein_coding The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 57526 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007420, GO:0007156, GO:0007155, brain development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000165195 chrX 15319451 15335580 - PIGA protein_coding This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]. 5277 GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0000506, GO:0000506, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, GO:0017176, GO:0017176, GO:0008194, GO:0005515, phosphatidylinositol N-acetylglucosaminyltransferase activity, phosphatidylinositol N-acetylglucosaminyltransferase activity, UDP-glycosyltransferase activity, protein binding, GO:1990830, GO:0016254, GO:0009893, GO:0006506, GO:0006506, cellular response to leukemia inhibitory factor, preassembly of GPI anchor in ER membrane, positive regulation of metabolic process, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 392 486 402 411 505 679 610 421 587 ENSG00000165197 chrX 15345591 15384376 - VEGFD protein_coding The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011]. 2277 GO:0031093, GO:0016020, GO:0005615, GO:0005576, platelet alpha granule lumen, membrane, extracellular space, extracellular region, GO:0043185, GO:0042802, GO:0042056, GO:0042056, GO:0008083, GO:0005515, GO:0005172, GO:0005172, GO:0005161, vascular endothelial growth factor receptor 3 binding, identical protein binding, chemoattractant activity, chemoattractant activity, growth factor activity, protein binding, vascular endothelial growth factor receptor binding, vascular endothelial growth factor receptor binding, platelet-derived growth factor receptor binding, GO:0071542, GO:0060754, GO:0060754, GO:0051781, GO:0050930, GO:0050930, GO:0050918, GO:0048010, GO:0048010, GO:0045766, GO:0038084, GO:0009617, GO:0008284, GO:0008283, GO:0002576, GO:0002040, GO:0001938, GO:0001934, GO:0001666, dopaminergic neuron differentiation, positive regulation of mast cell chemotaxis, positive regulation of mast cell chemotaxis, positive regulation of cell division, induction of positive chemotaxis, induction of positive chemotaxis, positive chemotaxis, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of angiogenesis, vascular endothelial growth factor signaling pathway, response to bacterium, positive regulation of cell population proliferation, cell population proliferation, platelet degranulation, sprouting angiogenesis, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000165202 chr9 122614738 122615682 + OR1Q1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 158131 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000165204 chr9 122800123 122801073 + OR1K1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 392392 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 1 0 1 0 0 0 0 0 0 ENSG00000165209 chr9 123109500 123268576 - STRBP protein_coding 55342 GO:0005737, GO:0005634, GO:0002177, cytoplasm, nucleus, manchette, GO:0008017, GO:0005515, GO:0003727, GO:0003725, GO:0003723, GO:0003677, microtubule binding, protein binding, single-stranded RNA binding, double-stranded RNA binding, RNA binding, DNA binding, GO:0007638, GO:0007286, GO:0007275, mechanosensory behavior, spermatid development, multicellular organism development, 23 42 28 75 57 33 61 40 59 ENSG00000165215 chr7 73768997 73770270 - CLDN3 protein_coding Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008]. 1365 GO:0070160, GO:0070160, GO:0043296, GO:0032991, GO:0016328, GO:0016327, GO:0016021, GO:0005923, GO:0005923, GO:0005923, GO:0005911, GO:0005887, GO:0005886, GO:0005737, tight junction, tight junction, apical junction complex, protein-containing complex, lateral plasma membrane, apicolateral plasma membrane, integral component of membrane, bicellular tight junction, bicellular tight junction, bicellular tight junction, cell-cell junction, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0042802, GO:0005515, GO:0005198, GO:0004888, identical protein binding, protein binding, structural molecule activity, transmembrane signaling receptor activity, GO:1905050, GO:1903348, GO:1901890, GO:0150111, GO:0090559, GO:0090303, GO:0070830, GO:0070830, GO:0061045, GO:0045471, GO:0035633, GO:0034331, GO:0031532, GO:0030336, GO:0030335, GO:0022604, GO:0016338, GO:0014045, GO:0010629, GO:0010628, GO:0008285, GO:0007155, GO:0003382, GO:0001934, GO:0001666, positive regulation of metallopeptidase activity, positive regulation of bicellular tight junction assembly, positive regulation of cell junction assembly, regulation of transepithelial transport, regulation of membrane permeability, positive regulation of wound healing, bicellular tight junction assembly, bicellular tight junction assembly, negative regulation of wound healing, response to ethanol, maintenance of blood-brain barrier, cell junction maintenance, actin cytoskeleton reorganization, negative regulation of cell migration, positive regulation of cell migration, regulation of cell morphogenesis, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, establishment of endothelial blood-brain barrier, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cell population proliferation, cell adhesion, epithelial cell morphogenesis, positive regulation of protein phosphorylation, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000165219 chr9 125261794 125367207 + GAPVD1 protein_coding 26130 GO:0005886, GO:0005829, GO:0005829, GO:0005768, plasma membrane, cytosol, cytosol, endosome, GO:0045296, GO:0032794, GO:0005096, GO:0005085, cadherin binding, GTPase activating protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0061024, GO:0051223, GO:0043547, GO:0007165, GO:0006897, membrane organization, regulation of protein transport, positive regulation of GTPase activity, signal transduction, endocytosis, 1122 1138 1292 693 963 990 812 693 764 ENSG00000165233 chr9 93096218 93113283 + CARD19 protein_coding 84270 GO:0031966, GO:0016021, GO:0005829, GO:0005789, GO:0005739, GO:0005739, GO:0005634, mitochondrial membrane, integral component of membrane, cytosol, endoplasmic reticulum membrane, mitochondrion, mitochondrion, nucleus, GO:0050700, CARD domain binding, GO:0043124, negative regulation of I-kappaB kinase/NF-kappaB signaling, 1596 2270 2326 400 1049 718 627 918 606 ENSG00000165238 chr9 93184916 93320572 + WNK2 protein_coding The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 65268 GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0019870, GO:0019869, GO:0005524, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, potassium channel inhibitor activity, chloride channel inhibitor activity, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000651, GO:2000651, GO:1903288, GO:0090263, GO:0070373, GO:0050801, GO:0050801, GO:0046777, GO:0035556, GO:0035556, GO:0010766, GO:0008285, GO:0006468, GO:0006468, positive regulation of sodium ion transmembrane transporter activity, positive regulation of sodium ion transmembrane transporter activity, positive regulation of potassium ion import across plasma membrane, positive regulation of canonical Wnt signaling pathway, negative regulation of ERK1 and ERK2 cascade, ion homeostasis, ion homeostasis, protein autophosphorylation, intracellular signal transduction, intracellular signal transduction, negative regulation of sodium ion transport, negative regulation of cell population proliferation, protein phosphorylation, protein phosphorylation, 8 21 18 4 13 0 4 17 9 ENSG00000165240 chrX 77910656 78050395 + ATP7A protein_coding This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]. 538 GO:0048471, GO:0048471, GO:0045121, GO:0043204, GO:0043025, GO:0043005, GO:0031526, GO:0031252, GO:0030670, GO:0030141, GO:0030140, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0005902, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005802, GO:0005794, GO:0005783, GO:0005770, GO:0005634, perinuclear region of cytoplasm, perinuclear region of cytoplasm, membrane raft, perikaryon, neuronal cell body, neuron projection, brush border membrane, cell leading edge, phagocytic vesicle membrane, secretory granule, trans-Golgi network transport vesicle, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, microvillus, plasma membrane, plasma membrane, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, endoplasmic reticulum, late endosome, nucleus, GO:1903136, GO:0051087, GO:0043682, GO:0043682, GO:0032767, GO:0031267, GO:0016532, GO:0005524, GO:0005515, GO:0005507, GO:0005375, cuprous ion binding, chaperone binding, copper transmembrane transporter activity, phosphorylative mechanism, copper transmembrane transporter activity, phosphorylative mechanism, copper-dependent protein binding, small GTPase binding, superoxide dismutase copper chaperone activity, ATP binding, protein binding, copper ion binding, copper ion transmembrane transporter activity, GO:1904959, GO:1904754, GO:1903036, GO:0072511, GO:0071456, GO:0071284, GO:0071281, GO:0071280, GO:0071279, GO:0071276, GO:0071236, GO:0071230, GO:0060003, GO:0060003, GO:0051542, GO:0051353, GO:0051216, GO:0050679, GO:0048812, GO:0048286, GO:0048251, GO:0045793, GO:0043588, GO:0043473, GO:0043085, GO:0042428, GO:0042417, GO:0042415, GO:0042414, GO:0042093, GO:0036120, GO:0034760, GO:0034220, GO:0031069, GO:0030199, GO:0030198, GO:0021954, GO:0021860, GO:0021702, GO:0019730, GO:0019430, GO:0018205, GO:0015677, GO:0010592, GO:0010468, GO:0010273, GO:0010043, GO:0010042, GO:0010041, GO:0007626, GO:0007595, GO:0007005, GO:0006878, GO:0006878, GO:0006825, GO:0006584, GO:0006568, GO:0002082, GO:0001974, GO:0001889, GO:0001701, GO:0001568, regulation of cytochrome-c oxidase activity, positive regulation of vascular associated smooth muscle cell migration, positive regulation of response to wounding, divalent inorganic cation transport, cellular response to hypoxia, cellular response to lead ion, cellular response to iron ion, cellular response to copper ion, cellular response to cobalt ion, cellular response to cadmium ion, cellular response to antibiotic, cellular response to amino acid stimulus, copper ion export, copper ion export, elastin biosynthetic process, positive regulation of oxidoreductase activity, cartilage development, positive regulation of epithelial cell proliferation, neuron projection morphogenesis, lung alveolus development, elastic fiber assembly, positive regulation of cell size, skin development, pigmentation, positive regulation of catalytic activity, serotonin metabolic process, dopamine metabolic process, norepinephrine metabolic process, epinephrine metabolic process, T-helper cell differentiation, cellular response to platelet-derived growth factor stimulus, negative regulation of iron ion transmembrane transport, ion transmembrane transport, hair follicle morphogenesis, collagen fibril organization, extracellular matrix organization, central nervous system neuron development, pyramidal neuron development, cerebellar Purkinje cell differentiation, antimicrobial humoral response, removal of superoxide radicals, peptidyl-lysine modification, copper ion import, positive regulation of lamellipodium assembly, regulation of gene expression, detoxification of copper ion, response to zinc ion, response to manganese ion, response to iron(III) ion, locomotory behavior, lactation, mitochondrion organization, cellular copper ion homeostasis, cellular copper ion homeostasis, copper ion transport, catecholamine metabolic process, tryptophan metabolic process, regulation of oxidative phosphorylation, blood vessel remodeling, liver development, in utero embryonic development, blood vessel development, 693 691 664 367 563 513 498 428 423 ENSG00000165244 chr9 96385941 96418329 - ZNF367 protein_coding 195828 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0003700, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 13 7 17 15 11 21 34 3 23 ENSG00000165246 chrY 14522573 14845650 + NLGN4Y protein_coding This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011]. 22829 GO:0098985, GO:0098983, GO:0098839, GO:0098793, GO:0089717, GO:0045202, GO:0009986, GO:0005887, GO:0005886, asymmetric, glutamatergic, excitatory synapse, symmetric, GABA-ergic, inhibitory synapse, postsynaptic density membrane, presynapse, spanning component of membrane, synapse, cell surface, integral component of plasma membrane, plasma membrane, GO:0097110, GO:0050839, GO:0042043, GO:0038023, GO:0005515, scaffold protein binding, cell adhesion molecule binding, neurexin family protein binding, signaling receptor activity, protein binding, GO:0099054, GO:0097105, GO:0097104, GO:0071625, GO:0050804, GO:0048488, GO:0035176, GO:0007612, GO:0007268, GO:0007158, GO:0007158, presynapse assembly, presynaptic membrane assembly, postsynaptic membrane assembly, vocalization behavior, modulation of chemical synaptic transmission, synaptic vesicle endocytosis, social behavior, learning, chemical synaptic transmission, neuron cell-cell adhesion, neuron cell-cell adhesion, 1 0 0 2 1 9 3 0 0 ENSG00000165259 chrX 84317874 84502479 - HDX protein_coding 139324 GO:0000785, GO:0000785, chromatin, chromatin, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 0 2 2 0 0 3 1 3 ENSG00000165264 chr9 32552999 32573184 - NDUFB6 protein_coding The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]. 4712 GO:0031966, GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, GO:0005654, mitochondrial membrane, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0042775, GO:0042775, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial ATP synthesis coupled electron transport, mitochondrial ATP synthesis coupled electron transport, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 218 136 213 74 163 126 150 163 115 ENSG00000165269 chr9 33383179 33402682 - AQP7 protein_coding This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]. 364 GO:0030659, GO:0005938, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005811, GO:0005737, cytoplasmic vesicle membrane, cell cortex, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, lipid droplet, cytoplasm, GO:0015254, GO:0015254, GO:0015250, GO:0015204, glycerol channel activity, glycerol channel activity, water channel activity, urea transmembrane transporter activity, GO:0071918, GO:0015793, GO:0015793, GO:0006833, GO:0006833, urea transmembrane transport, glycerol transport, glycerol transport, water transport, water transport, 0 0 1 0 1 0 0 0 0 ENSG00000165271 chr9 33461441 33473930 - NOL6 protein_coding The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 65083 GO:0034456, GO:0032545, GO:0032040, GO:0005739, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0000794, UTP-C complex, CURI complex, small-subunit processome, mitochondrion, nucleolus, nucleolus, nucleoplasm, nucleoplasm, condensed nuclear chromosome, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006409, GO:0006364, GO:0006364, GO:0006364, tRNA export from nucleus, rRNA processing, rRNA processing, rRNA processing, 27 27 57 55 45 36 44 34 47 ENSG00000165272 chr9 33441154 33447633 - AQP3 protein_coding This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 360 GO:0016323, GO:0016021, GO:0005911, GO:0005886, GO:0005886, GO:0005737, GO:0005654, basolateral plasma membrane, integral component of membrane, cell-cell junction, plasma membrane, plasma membrane, cytoplasm, nucleoplasm, GO:0042802, GO:0015254, GO:0015250, GO:0015250, GO:0015250, GO:0015204, GO:0005515, identical protein binding, glycerol channel activity, water channel activity, water channel activity, water channel activity, urea transmembrane transporter activity, protein binding, GO:0090650, GO:0071918, GO:0071456, GO:0070295, GO:0051592, GO:0045616, GO:0042476, GO:0033280, GO:0032526, GO:0015793, GO:0006833, GO:0006833, GO:0003091, GO:0002684, cellular response to oxygen-glucose deprivation, urea transmembrane transport, cellular response to hypoxia, renal water absorption, response to calcium ion, regulation of keratinocyte differentiation, odontogenesis, response to vitamin D, response to retinoic acid, glycerol transport, water transport, water transport, renal water homeostasis, positive regulation of immune system process, 44 25 62 155 87 149 129 54 72 ENSG00000165275 chr9 37753803 37778972 + TRMT10B protein_coding 158234 GO:0005829, GO:0005739, GO:0005654, GO:0005634, cytosol, mitochondrion, nucleoplasm, nucleus, GO:0052905, GO:0009019, GO:0009019, GO:0005515, GO:0000049, tRNA (guanine(9)-N(1))-methyltransferase activity, tRNA (guanine-N1-)-methyltransferase activity, tRNA (guanine-N1-)-methyltransferase activity, protein binding, tRNA binding, GO:0090646, GO:0030488, mitochondrial tRNA processing, tRNA methylation, 52 44 59 28 37 37 35 38 38 ENSG00000165280 chr9 35056064 35073249 - VCP protein_coding This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]. 7415 GO:1990730, GO:1904949, GO:1904813, GO:0070062, GO:0048471, GO:0045202, GO:0043231, GO:0036513, GO:0035861, GO:0035578, GO:0034774, GO:0034098, GO:0034098, GO:0034098, GO:0032991, GO:0010494, GO:0005829, GO:0005829, GO:0005829, GO:0005811, GO:0005789, GO:0005789, GO:0005783, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, GO:0005576, GO:0000502, VCP-NSFL1C complex, ATPase complex, ficolin-1-rich granule lumen, extracellular exosome, perinuclear region of cytoplasm, synapse, intracellular membrane-bounded organelle, Derlin-1 retrotranslocation complex, site of double-strand break, azurophil granule lumen, secretory granule lumen, VCP-NPL4-UFD1 AAA ATPase complex, VCP-NPL4-UFD1 AAA ATPase complex, VCP-NPL4-UFD1 AAA ATPase complex, protein-containing complex, cytoplasmic stress granule, cytosol, cytosol, cytosol, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, nucleus, extracellular region, proteasome complex, GO:1990381, GO:1904288, GO:0044389, GO:0043531, GO:0042802, GO:0042288, GO:0036435, GO:0035800, GO:0031625, GO:0031593, GO:0031593, GO:0019904, GO:0019903, GO:0016887, GO:0016887, GO:0016887, GO:0008289, GO:0005524, GO:0005515, GO:0003723, ubiquitin-specific protease binding, BAT3 complex binding, ubiquitin-like protein ligase binding, ADP binding, identical protein binding, MHC class I protein binding, K48-linked polyubiquitin modification-dependent protein binding, deubiquitinase activator activity, ubiquitin protein ligase binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, protein domain specific binding, protein phosphatase binding, ATPase activity, ATPase activity, ATPase activity, lipid binding, ATP binding, protein binding, RNA binding, GO:2001171, GO:2000158, GO:1905634, GO:1903862, GO:1903843, GO:1903715, GO:1903007, GO:1903006, GO:0106300, GO:0097352, GO:0097352, GO:0090263, GO:0072389, GO:0071712, GO:0071712, GO:0070987, GO:0070842, GO:0061857, GO:0055085, GO:0051228, GO:0046034, GO:0045879, GO:0045732, GO:0045184, GO:0043312, GO:0043161, GO:0043161, GO:0042981, GO:0036503, GO:0036503, GO:0036297, GO:0035617, GO:0034605, GO:0032510, GO:0032436, GO:0031334, GO:0030970, GO:0030970, GO:0030970, GO:0030968, GO:0030433, GO:0030433, GO:0030433, GO:0030433, GO:0019985, GO:0019079, GO:0016579, GO:0016567, GO:0016567, GO:0016567, GO:0016236, GO:0010918, GO:0010498, GO:0006974, GO:0006919, GO:0006914, GO:0006888, GO:0006734, GO:0006457, GO:0006302, GO:0006281, positive regulation of ATP biosynthetic process, positive regulation of ubiquitin-specific protease activity, regulation of protein localization to chromatin, positive regulation of oxidative phosphorylation, cellular response to arsenite ion, regulation of aerobic respiration, positive regulation of Lys63-specific deubiquitinase activity, positive regulation of protein K63-linked deubiquitination, protein-DNA covalent cross-linking repair, autophagosome maturation, autophagosome maturation, positive regulation of canonical Wnt signaling pathway, flavin adenine dinucleotide catabolic process, ER-associated misfolded protein catabolic process, ER-associated misfolded protein catabolic process, error-free translesion synthesis, aggresome assembly, endoplasmic reticulum stress-induced pre-emptive quality control, transmembrane transport, mitotic spindle disassembly, ATP metabolic process, negative regulation of smoothened signaling pathway, positive regulation of protein catabolic process, establishment of protein localization, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of apoptotic process, ERAD pathway, ERAD pathway, interstrand cross-link repair, stress granule disassembly, cellular response to heat, endosome to lysosome transport via multivesicular body sorting pathway, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein-containing complex assembly, retrograde protein transport, ER to cytosol, retrograde protein transport, ER to cytosol, retrograde protein transport, ER to cytosol, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, translesion synthesis, viral genome replication, protein deubiquitination, protein ubiquitination, protein ubiquitination, protein ubiquitination, macroautophagy, positive regulation of mitochondrial membrane potential, proteasomal protein catabolic process, cellular response to DNA damage stimulus, activation of cysteine-type endopeptidase activity involved in apoptotic process, autophagy, endoplasmic reticulum to Golgi vesicle-mediated transport, NADH metabolic process, protein folding, double-strand break repair, DNA repair, 2634 2879 3169 1602 2239 2211 1597 1643 1691 ENSG00000165282 chr9 35088688 35096601 - PIGO protein_coding This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 84720 GO:0016021, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0051377, GO:0051377, mannose-ethanolamine phosphotransferase activity, mannose-ethanolamine phosphotransferase activity, GO:0006506, GO:0006506, GO:0006506, GPI anchor biosynthetic process, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 53 50 58 90 46 70 106 48 57 ENSG00000165283 chr9 35099776 35103195 - STOML2 protein_coding 30968 GO:0045121, GO:0042101, GO:0019897, GO:0015629, GO:0008180, GO:0005856, GO:0005758, GO:0005743, GO:0005743, GO:0001772, membrane raft, T cell receptor complex, extrinsic component of plasma membrane, actin cytoskeleton, COP9 signalosome, cytoskeleton, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial inner membrane, immunological synapse, GO:1901612, GO:0051020, GO:0005515, GO:0005102, cardiolipin binding, GTPase binding, protein binding, signaling receptor binding, GO:1990046, GO:1900210, GO:0090297, GO:0051259, GO:0050852, GO:0042776, GO:0035710, GO:0034982, GO:0032623, GO:0010918, GO:0010876, GO:0007005, GO:0006874, GO:0006851, GO:0006851, stress-induced mitochondrial fusion, positive regulation of cardiolipin metabolic process, positive regulation of mitochondrial DNA replication, protein complex oligomerization, T cell receptor signaling pathway, mitochondrial ATP synthesis coupled proton transport, CD4-positive, alpha-beta T cell activation, mitochondrial protein processing, interleukin-2 production, positive regulation of mitochondrial membrane potential, lipid localization, mitochondrion organization, cellular calcium ion homeostasis, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, 53 51 41 91 79 98 51 83 68 ENSG00000165288 chrX 80670854 80809688 - BRWD3 protein_coding The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]. 254065 GO:0005634, nucleus, GO:0008360, GO:0008360, GO:0007010, GO:0007010, GO:0006357, regulation of cell shape, regulation of cell shape, cytoskeleton organization, cytoskeleton organization, regulation of transcription by RNA polymerase II, 2296 2754 3530 699 1417 1319 1050 1118 1196 ENSG00000165300 chr13 87672615 87696272 + SLITRK5 protein_coding Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]. 26050 GO:0045202, GO:0043235, GO:0016021, GO:0005886, synapse, receptor complex, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:1905606, GO:0051965, GO:0048813, GO:0043588, GO:0030534, GO:0021756, GO:0009410, GO:0007625, GO:0007409, GO:0007268, regulation of presynapse assembly, positive regulation of synapse assembly, dendrite morphogenesis, skin development, adult behavior, striatum development, response to xenobiotic stimulus, grooming behavior, axonogenesis, chemical synaptic transmission, 0 0 1 0 3 0 4 1 0 ENSG00000165304 chr9 36572862 36677683 + MELK protein_coding 9833 GO:0016020, GO:0005938, GO:0005886, GO:0005737, GO:0005634, membrane, cell cortex, plasma membrane, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0008289, GO:0005524, GO:0005515, GO:0005509, GO:0004715, GO:0004715, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, lipid binding, ATP binding, protein binding, calcium ion binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0061351, GO:0046777, GO:0043065, GO:0035556, GO:0030097, GO:0018108, GO:0008631, GO:0008283, GO:0006915, GO:0006468, GO:0000086, neural precursor cell proliferation, protein autophosphorylation, positive regulation of apoptotic process, intracellular signal transduction, hemopoiesis, peptidyl-tyrosine phosphorylation, intrinsic apoptotic signaling pathway in response to oxidative stress, cell population proliferation, apoptotic process, protein phosphorylation, G2/M transition of mitotic cell cycle, 2 0 3 0 0 0 3 2 0 ENSG00000165309 chr10 22928024 23038523 + ARMC3 protein_coding Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]. 219681 GO:0070062, extracellular exosome, 0 0 0 0 0 2 1 1 3 ENSG00000165312 chr10 23439458 23442390 + OTUD1 protein_coding Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]. 220213 GO:0008234, GO:0004843, GO:0004843, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0070536, GO:0070536, GO:0016579, protein K63-linked deubiquitination, protein K63-linked deubiquitination, protein deubiquitination, 449 507 274 244 423 263 372 464 193 ENSG00000165322 chr10 31805404 31928876 - ARHGAP12 protein_coding This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 94134 GO:0005829, GO:0005737, GO:0001891, cytosol, cytoplasm, phagocytic cup, GO:0005096, GTPase activator activity, GO:0051058, GO:0051056, GO:0043547, GO:0043087, GO:0007165, GO:0007015, GO:0006911, GO:0002011, negative regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of GTPase activity, signal transduction, actin filament organization, phagocytosis, engulfment, morphogenesis of an epithelial sheet, 164 129 153 157 118 206 151 81 146 ENSG00000165323 chr11 92352096 92896470 + FAT3 protein_coding 120114 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005509, calcium ion binding, GO:0098609, GO:0007275, GO:0007156, cell-cell adhesion, multicellular organism development, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 1 4 0 0 0 0 0 ENSG00000165325 chr11 93329971 93438487 + DEUP1 protein_coding 159989 GO:0098536, GO:0098536, GO:0005814, GO:0005737, deuterosome, deuterosome, centriole, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1903251, GO:0098535, GO:0098535, GO:0030030, GO:0007099, multi-ciliated epithelial cell differentiation, de novo centriole assembly involved in multi-ciliated epithelial cell differentiation, de novo centriole assembly involved in multi-ciliated epithelial cell differentiation, cell projection organization, centriole replication, 0 0 0 0 0 0 0 0 0 ENSG00000165338 chr10 91409280 91514829 + HECTD2 protein_coding 143279 GO:0005829, cytosol, GO:0004842, ubiquitin-protein transferase activity, GO:0000209, protein polyubiquitination, 4 0 4 2 5 7 5 1 7 ENSG00000165349 chrX 70925582 70931125 - SLC7A3 protein_coding This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010]. 84889 GO:0016021, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0061459, GO:0015189, GO:0015189, GO:0015181, GO:0015171, GO:0015171, GO:0005515, GO:0000064, GO:0000064, L-arginine transmembrane transporter activity, L-lysine transmembrane transporter activity, L-lysine transmembrane transporter activity, arginine transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, L-ornithine transmembrane transporter activity, L-ornithine transmembrane transporter activity, GO:1903352, GO:0150104, GO:0097640, GO:0097639, GO:0097638, GO:0097638, GO:0006865, GO:0006865, L-ornithine transmembrane transport, transport across blood-brain barrier, L-ornithine import across plasma membrane, L-lysine import across plasma membrane, L-arginine import across plasma membrane, L-arginine import across plasma membrane, amino acid transport, amino acid transport, 0 0 0 0 0 0 0 1 0 ENSG00000165355 chr14 39397669 39432500 - FBXO33 protein_coding This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]. 254170 GO:0019005, SCF ubiquitin ligase complex, GO:0005515, protein binding, GO:0031146, GO:0016567, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, 799 960 907 575 969 743 628 665 692 ENSG00000165359 chrX 135520643 135582510 + INTS6L protein_coding 203522 GO:0032039, integrator complex, GO:0034472, snRNA 3'-end processing, 307 312 467 425 428 509 405 240 381 ENSG00000165370 chrX 137030148 137031674 - GPR101 protein_coding The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]. 83550 GO:0043235, GO:0005887, receptor complex, integral component of plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0071880, adenylate cyclase-activating adrenergic receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000165376 chrX 106900164 106930861 + CLDN2 protein_coding This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]. 9075 GO:0016021, GO:0005923, GO:0005923, GO:0005911, GO:0005886, integral component of membrane, bicellular tight junction, bicellular tight junction, cell-cell junction, plasma membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:0070830, GO:0016338, GO:0016338, GO:0007155, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 0 0 0 1 0 1 0 0 0 ENSG00000165379 chr14 41607570 41904549 + LRFN5 protein_coding This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]. 145581 GO:0099061, GO:0098982, GO:0098978, GO:0009986, integral component of postsynaptic density membrane, GABA-ergic synapse, glutamatergic synapse, cell surface, GO:0005515, protein binding, GO:1905606, GO:0099560, GO:0050728, GO:0043031, regulation of presynapse assembly, synaptic membrane adhesion, negative regulation of inflammatory response, negative regulation of macrophage activation, 0 0 0 0 0 0 0 0 0 ENSG00000165383 chr10 48909483 48914232 - LRRC18 protein_coding 474354 GO:0005737, cytoplasm, GO:0005515, protein binding, 11 25 10 5 32 25 11 33 15 ENSG00000165389 chr14 34432789 34462356 - SPTSSA protein_coding Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]. 171546 GO:0017059, GO:0017059, GO:0016021, GO:0005789, GO:0005783, serine C-palmitoyltransferase complex, serine C-palmitoyltransferase complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, GO:0004758, GO:0004758, GO:0004758, protein binding, serine C-palmitoyltransferase activity, serine C-palmitoyltransferase activity, serine C-palmitoyltransferase activity, GO:0046513, GO:0046513, GO:0030148, GO:0008104, ceramide biosynthetic process, ceramide biosynthetic process, sphingolipid biosynthetic process, protein localization, 20 19 42 19 9 23 16 10 6 ENSG00000165392 chr8 31033801 31173769 + WRN protein_coding This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]. 7486 GO:0043005, GO:0016607, GO:0005813, GO:0005737, GO:0005730, GO:0005694, GO:0005657, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000781, neuron projection, nuclear speck, centrosome, cytoplasm, nucleolus, chromosome, replication fork, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:1905773, GO:0070337, GO:0061849, GO:0061821, GO:0061749, GO:0051880, GO:0044877, GO:0043138, GO:0043138, GO:0042803, GO:0032405, GO:0030145, GO:0016887, GO:0009378, GO:0009378, GO:0008408, GO:0005524, GO:0005515, GO:0004527, GO:0004527, GO:0004386, GO:0003682, GO:0003678, GO:0003678, GO:0003677, GO:0000405, GO:0000403, GO:0000400, GO:0000287, 8-hydroxy-2'-deoxyguanosine DNA binding, 3'-flap-structured DNA binding, telomeric G-quadruplex DNA binding, telomeric D-loop binding, forked DNA-dependent helicase activity, G-quadruplex DNA binding, protein-containing complex binding, 3'-5' DNA helicase activity, 3'-5' DNA helicase activity, protein homodimerization activity, MutLalpha complex binding, manganese ion binding, ATPase activity, four-way junction helicase activity, four-way junction helicase activity, 3'-5' exonuclease activity, ATP binding, protein binding, exonuclease activity, exonuclease activity, helicase activity, chromatin binding, DNA helicase activity, DNA helicase activity, DNA binding, bubble DNA binding, Y-form DNA binding, four-way junction DNA binding, magnesium ion binding, GO:1902570, GO:1901796, GO:0098530, GO:0090656, GO:0090305, GO:0071480, GO:0061820, GO:0061820, GO:0061820, GO:0051345, GO:0044806, GO:0044806, GO:0044806, GO:0042981, GO:0040009, GO:0032508, GO:0032508, GO:0031297, GO:0031297, GO:0010259, GO:0010259, GO:0010225, GO:0009267, GO:0007569, GO:0007568, GO:0007420, GO:0006979, GO:0006974, GO:0006310, GO:0006302, GO:0006284, GO:0006281, GO:0006268, GO:0006260, GO:0006260, GO:0006260, GO:0006259, GO:0000731, GO:0000724, GO:0000723, GO:0000723, GO:0000723, protein localization to nucleolus, regulation of signal transduction by p53 class mediator, positive regulation of strand invasion, t-circle formation, nucleic acid phosphodiester bond hydrolysis, cellular response to gamma radiation, telomeric D-loop disassembly, telomeric D-loop disassembly, telomeric D-loop disassembly, positive regulation of hydrolase activity, G-quadruplex DNA unwinding, G-quadruplex DNA unwinding, G-quadruplex DNA unwinding, regulation of apoptotic process, regulation of growth rate, DNA duplex unwinding, DNA duplex unwinding, replication fork processing, replication fork processing, multicellular organism aging, multicellular organism aging, response to UV-C, cellular response to starvation, cell aging, aging, brain development, response to oxidative stress, cellular response to DNA damage stimulus, DNA recombination, double-strand break repair, base-excision repair, DNA repair, DNA unwinding involved in DNA replication, DNA replication, DNA replication, DNA replication, DNA metabolic process, DNA synthesis involved in DNA repair, double-strand break repair via homologous recombination, telomere maintenance, telomere maintenance, telomere maintenance, 57 56 78 50 73 85 69 54 50 ENSG00000165406 chr10 45454585 45594906 - MARCH8 protein_coding MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]. 220972 GO:0031902, GO:0031901, GO:0030659, GO:0016021, GO:0005768, GO:0005765, GO:0005764, GO:0005764, GO:0005737, late endosome membrane, early endosome membrane, cytoplasmic vesicle membrane, integral component of membrane, endosome, lysosomal membrane, lysosome, lysosome, cytoplasm, GO:0061630, GO:0042287, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, MHC protein binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0006955, GO:0002495, GO:0002250, GO:0000209, GO:0000209, immune response, antigen processing and presentation of peptide antigen via MHC class II, adaptive immune response, protein polyubiquitination, protein polyubiquitination, 222 311 364 74 127 120 76 106 126 ENSG00000165409 chr14 80954989 81146302 + TSHR protein_coding The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 7253 GO:0043235, GO:0016323, GO:0009986, GO:0005887, GO:0005886, GO:0005886, receptor complex, basolateral plasma membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0044877, GO:0038023, GO:0008528, GO:0005515, GO:0004996, GO:0004996, protein-containing complex binding, signaling receptor activity, G protein-coupled peptide receptor activity, protein binding, thyroid-stimulating hormone receptor activity, thyroid-stimulating hormone receptor activity, GO:1905229, GO:1904588, GO:0120162, GO:0038194, GO:0009755, GO:0008284, GO:0007267, GO:0007190, GO:0007189, GO:0007189, GO:0007187, GO:0007186, GO:0007166, cellular response to thyrotropin-releasing hormone, cellular response to glycoprotein, positive regulation of cold-induced thermogenesis, thyroid-stimulating hormone signaling pathway, hormone-mediated signaling pathway, positive regulation of cell population proliferation, cell-cell signaling, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 1 0 1 1 7 0 0 3 ENSG00000165410 chr14 34706769 34714823 - CFL2 protein_coding This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. 1073 GO:0070062, GO:0031674, GO:0030018, GO:0016363, GO:0015629, GO:0005737, GO:0005615, extracellular exosome, I band, Z disc, nuclear matrix, actin cytoskeleton, cytoplasm, extracellular space, GO:0051015, GO:0051015, GO:0005515, actin filament binding, actin filament binding, protein binding, GO:0051014, GO:0048870, GO:0046716, GO:0045214, GO:0030836, GO:0030043, GO:0030042, GO:0030042, GO:0030042, GO:0007519, actin filament severing, cell motility, muscle cell cellular homeostasis, sarcomere organization, positive regulation of actin filament depolymerization, actin filament fragmentation, actin filament depolymerization, actin filament depolymerization, actin filament depolymerization, skeletal muscle tissue development, 16 8 38 8 4 35 6 6 18 ENSG00000165416 chr13 52652709 52700909 + SUGT1 protein_coding This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes. [provided by RefSeq, Mar 2016]. 10910 GO:0032991, GO:0005829, GO:0005634, GO:0000776, GO:0000151, protein-containing complex, cytosol, nucleus, kinetochore, ubiquitin ligase complex, GO:0005515, protein binding, GO:0050821, GO:0043947, GO:0031647, GO:0000278, protein stabilization, positive regulation by host of symbiont catalytic activity, regulation of protein stability, mitotic cell cycle, 48 28 55 69 44 89 52 33 76 ENSG00000165417 chr14 81175452 81221377 - GTF2A1 protein_coding Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010]. 2957 GO:0097550, GO:0005829, GO:0005672, GO:0005672, GO:0005669, GO:0005654, GO:0005654, transcription preinitiation complex, cytosol, transcription factor TFIIA complex, transcription factor TFIIA complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, GO:0046982, GO:0017025, GO:0016251, GO:0016251, GO:0008134, GO:0005515, GO:0003677, GO:0001103, GO:0000979, protein heterodimerization activity, TBP-class protein binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, transcription factor binding, protein binding, DNA binding, RNA polymerase II repressing transcription factor binding, RNA polymerase II core promoter sequence-specific DNA binding, GO:0042795, GO:0006367, GO:0006366, GO:0006366, GO:0006366, snRNA transcription by RNA polymerase II, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, 465 753 780 382 730 745 387 590 591 ENSG00000165424 chr10 79382325 79445627 - ZCCHC24 protein_coding 219654 GO:0008270, GO:0003723, zinc ion binding, RNA binding, 77 95 191 48 76 63 51 38 63 ENSG00000165434 chr11 74330318 74398473 - PGM2L1 protein_coding 283209 GO:0005829, cytosol, GO:0047933, GO:0047933, GO:0046872, GO:0016868, glucose-1,6-bisphosphate synthase activity, glucose-1,6-bisphosphate synthase activity, metal ion binding, intramolecular transferase activity, phosphotransferases, GO:0061621, GO:0019388, GO:0005980, GO:0005978, canonical glycolysis, galactose catabolic process, glycogen catabolic process, glycogen biosynthetic process, 38 37 51 53 23 100 57 14 39 ENSG00000165443 chr10 59176590 59247774 + PHYHIPL protein_coding 84457 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000165449 chr10 59650761 59736002 - SLC16A9 protein_coding 220963 GO:0016021, GO:0005887, integral component of membrane, integral component of plasma membrane, GO:0015293, GO:0008028, GO:0005515, symporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, GO:0055085, GO:0046415, GO:0015718, transmembrane transport, urate metabolic process, monocarboxylic acid transport, 0 0 0 0 0 0 0 0 0 ENSG00000165457 chr11 72216601 72221950 + FOLR2 protein_coding The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 2350 GO:0031362, GO:0031362, GO:0009986, GO:0005886, GO:0005576, anchored component of external side of plasma membrane, anchored component of external side of plasma membrane, cell surface, plasma membrane, extracellular region, GO:0061714, GO:0061714, GO:0051870, GO:0038023, GO:0008144, GO:0005542, folic acid receptor activity, folic acid receptor activity, methotrexate binding, signaling receptor activity, drug binding, folic acid binding, GO:1904447, GO:0071231, GO:0050758, GO:0046655, GO:0035036, GO:0015884, GO:0008284, GO:0007342, GO:0007155, GO:0006954, GO:0006898, GO:0002548, folate import across plasma membrane, cellular response to folic acid, regulation of thymidylate synthase biosynthetic process, folic acid metabolic process, sperm-egg recognition, folic acid transport, positive regulation of cell population proliferation, fusion of sperm to egg plasma membrane involved in single fertilization, cell adhesion, inflammatory response, receptor-mediated endocytosis, monocyte chemotaxis, 0 2 2 2 0 1 0 0 0 ENSG00000165458 chr11 72223701 72239105 + INPPL1 protein_coding The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]. 3636 GO:0030175, GO:0030027, GO:0016607, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005794, GO:0005634, filopodium, lamellipodium, nuclear speck, plasma membrane, cytoskeleton, cytosol, cytosol, Golgi apparatus, nucleus, GO:0042169, GO:0017124, GO:0016787, GO:0005515, GO:0003779, SH2 domain binding, SH3 domain binding, hydrolase activity, protein binding, actin binding, GO:0097178, GO:0046856, GO:0043647, GO:0032868, GO:0019221, GO:0010629, GO:0009791, GO:0008285, GO:0007155, GO:0007015, GO:0006897, GO:0006661, GO:0006006, GO:0002376, GO:0001958, ruffle assembly, phosphatidylinositol dephosphorylation, inositol phosphate metabolic process, response to insulin, cytokine-mediated signaling pathway, negative regulation of gene expression, post-embryonic development, negative regulation of cell population proliferation, cell adhesion, actin filament organization, endocytosis, phosphatidylinositol biosynthetic process, glucose metabolic process, immune system process, endochondral ossification, 746 950 1347 928 1048 1461 975 789 1085 ENSG00000165462 chr11 72239077 72245664 - PHOX2A protein_coding The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]. 401 GO:0000785, GO:0000785, GO:0000785, chromatin, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071542, GO:0048485, GO:0048484, GO:0045944, GO:0045944, GO:0043576, GO:0030901, GO:0021703, GO:0021642, GO:0021623, GO:0021523, GO:0006357, GO:0003357, GO:0003357, dopaminergic neuron differentiation, sympathetic nervous system development, enteric nervous system development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of respiratory gaseous exchange, midbrain development, locus ceruleus development, trochlear nerve formation, oculomotor nerve formation, somatic motor neuron differentiation, regulation of transcription by RNA polymerase II, noradrenergic neuron differentiation, noradrenergic neuron differentiation, 0 0 0 0 0 5 2 0 0 ENSG00000165471 chr10 52765380 52771700 - MBL2 protein_coding This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]. 4153 GO:0062023, GO:0009986, GO:0005615, GO:0005615, GO:0005581, GO:0005576, collagen-containing extracellular matrix, cell surface, extracellular space, extracellular space, collagen trimer, extracellular region, GO:0048306, GO:0005537, GO:0005537, GO:0005537, GO:0005515, GO:0005102, calcium-dependent protein binding, mannose binding, mannose binding, mannose binding, protein binding, signaling receptor binding, GO:0050830, GO:0048525, GO:0045087, GO:0042742, GO:0008228, GO:0006979, GO:0006958, GO:0006956, GO:0006953, GO:0001867, GO:0001867, GO:0001867, defense response to Gram-positive bacterium, negative regulation of viral process, innate immune response, defense response to bacterium, opsonization, response to oxidative stress, complement activation, classical pathway, complement activation, acute-phase response, complement activation, lectin pathway, complement activation, lectin pathway, complement activation, lectin pathway, 0 0 0 0 0 0 0 0 0 ENSG00000165474 chr13 20187463 20193010 - GJB2 protein_coding This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]. 2706 GO:0097449, GO:0048471, GO:0044297, GO:0016328, GO:0005922, GO:0005922, GO:0005921, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005793, astrocyte projection, perinuclear region of cytoplasm, cell body, lateral plasma membrane, connexin complex, connexin complex, gap junction, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum-Golgi intermediate compartment, GO:1903763, GO:0042802, GO:0005515, GO:0005509, GO:0005243, GO:0005243, gap junction channel activity involved in cell communication by electrical coupling, identical protein binding, protein binding, calcium ion binding, gap junction channel activity, gap junction channel activity, GO:1990349, GO:1905867, GO:0071549, GO:0071377, GO:0055085, GO:0048839, GO:0046697, GO:0046677, GO:0044752, GO:0034599, GO:0032570, GO:0032526, GO:0032496, GO:0032355, GO:0016264, GO:0016264, GO:0010644, GO:0007605, GO:0007568, GO:0007267, GO:0007267, GO:0002931, gap junction-mediated intercellular transport, epididymis development, cellular response to dexamethasone stimulus, cellular response to glucagon stimulus, transmembrane transport, inner ear development, decidualization, response to antibiotic, response to human chorionic gonadotropin, cellular response to oxidative stress, response to progesterone, response to retinoic acid, response to lipopolysaccharide, response to estradiol, gap junction assembly, gap junction assembly, cell communication by electrical coupling, sensory perception of sound, aging, cell-cell signaling, cell-cell signaling, response to ischemia, 0 7 0 2 2 0 0 4 5 ENSG00000165475 chr13 20403666 20525873 - CRYL1 protein_coding The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]. 51084 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0070403, GO:0050104, GO:0050104, GO:0042803, GO:0016616, GO:0003857, NAD+ binding, L-gulonate 3-dehydrogenase activity, L-gulonate 3-dehydrogenase activity, protein homodimerization activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, 3-hydroxyacyl-CoA dehydrogenase activity, GO:0055114, GO:0019640, GO:0006631, oxidation-reduction process, glucuronate catabolic process to xylulose 5-phosphate, fatty acid metabolic process, 12 10 6 27 26 30 15 9 22 ENSG00000165476 chr10 63521363 63625123 + REEP3 protein_coding 221035 GO:0071782, GO:0016021, GO:0016020, GO:0005881, GO:0005789, endoplasmic reticulum tubular network, integral component of membrane, membrane, cytoplasmic microtubule, endoplasmic reticulum membrane, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0071786, GO:0051301, GO:0007084, GO:0006998, endoplasmic reticulum tubular network organization, cell division, mitotic nuclear envelope reassembly, nuclear envelope organization, 150 108 168 76 111 94 78 79 61 ENSG00000165478 chr11 124919193 124936412 - HEPACAM protein_coding The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]. 220296 GO:0030424, GO:0016021, GO:0005911, GO:0005737, axon, integral component of membrane, cell-cell junction, cytoplasm, GO:0040008, GO:0034613, GO:0007155, GO:0007050, regulation of growth, cellular protein localization, cell adhesion, cell cycle arrest, 0 0 0 0 0 0 0 0 0 ENSG00000165480 chr13 21153595 21176602 - SKA3 protein_coding This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 221150 GO:0072686, GO:0015630, GO:0005876, GO:0005876, GO:0005829, GO:0005813, GO:0000940, GO:0000940, GO:0000776, mitotic spindle, microtubule cytoskeleton, spindle microtubule, spindle microtubule, cytosol, centrosome, condensed chromosome outer kinetochore, condensed chromosome outer kinetochore, kinetochore, GO:0005515, protein binding, GO:0051301, GO:0031110, GO:0007059, GO:0007059, GO:0000278, GO:0000278, cell division, regulation of microtubule polymerization or depolymerization, chromosome segregation, chromosome segregation, mitotic cell cycle, mitotic cell cycle, 0 1 2 1 0 0 0 2 2 ENSG00000165487 chr13 21492691 21604214 - MICU2 protein_coding 221154 GO:1990246, GO:1990246, GO:0034704, GO:0005758, GO:0005743, GO:0005743, GO:0005739, uniplex complex, uniplex complex, calcium channel complex, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0046982, GO:0005515, GO:0005509, protein heterodimerization activity, protein binding, calcium ion binding, GO:0051562, GO:0051561, GO:0051560, GO:0051560, GO:0036444, GO:0036444, GO:0006851, GO:0006851, negative regulation of mitochondrial calcium ion concentration, positive regulation of mitochondrial calcium ion concentration, mitochondrial calcium ion homeostasis, mitochondrial calcium ion homeostasis, calcium import into the mitochondrion, calcium import into the mitochondrion, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, 414 423 486 371 470 468 384 357 343 ENSG00000165490 chr11 82899975 82958277 + DDIAS protein_coding 220042 GO:0005737, GO:0005634, GO:0005575, cytoplasm, nucleus, cellular_component, GO:0003674, molecular_function, GO:1902230, GO:0097752, GO:0071850, GO:0006915, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, regulation of DNA stability, mitotic cell cycle arrest, apoptotic process, 21 26 29 32 35 33 29 12 20 ENSG00000165494 chr11 83156988 83187451 + PCF11 protein_coding The protein encoded by this gene binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation of the 3' product of polyA site cleavage. [provided by RefSeq, Oct 2016]. 51585 GO:0005849, GO:0005849, GO:0005739, GO:0005737, GO:0005654, GO:0005654, mRNA cleavage factor complex, mRNA cleavage factor complex, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, GO:0003729, GO:0000993, mRNA binding, RNA polymerase II complex binding, GO:0031124, GO:0006379, GO:0006378, GO:0006369, GO:0006369, GO:0000398, mRNA 3'-end processing, mRNA cleavage, mRNA polyadenylation, termination of RNA polymerase II transcription, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 3110 3307 3107 6905 8027 8953 6786 5334 6242 ENSG00000165495 chr11 125164687 125433389 + PKNOX2 protein_coding Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]. 63876 GO:0045171, GO:0015630, GO:0015629, GO:0005737, GO:0005654, GO:0000785, intercellular bridge, microtubule cytoskeleton, actin cytoskeleton, cytoplasm, nucleoplasm, chromatin, GO:1990837, GO:0051015, GO:0005515, GO:0003785, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, actin filament binding, protein binding, actin monomer binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000165496 chr14 46651010 46651821 - RPL10L protein_coding This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This gene is intronless. [provided by RefSeq, Jul 2008]. 140801 GO:0022625, GO:0022625, GO:0016020, GO:0005844, GO:0005829, GO:0005783, GO:0005634, GO:0005634, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, polysome, cytosol, endoplasmic reticulum, nucleus, nucleus, GO:0003735, structural constituent of ribosome, GO:0007283, GO:0006412, GO:0000027, spermatogenesis, translation, ribosomal large subunit assembly, 0 0 0 0 0 0 0 0 0 ENSG00000165501 chr14 49598697 49614672 + LRR1 protein_coding The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]. 122769 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 28 36 36 19 11 30 10 28 21 ENSG00000165502 chr14 49618519 49620685 - RPL36AL protein_coding Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6166 GO:0022625, GO:0005886, GO:0005829, GO:0005783, GO:0005634, cytosolic large ribosomal subunit, plasma membrane, cytosol, endoplasmic reticulum, nucleus, GO:0005515, GO:0003735, protein binding, structural constituent of ribosome, GO:0006412, translation, 684 604 762 497 571 639 426 563 597 ENSG00000165506 chr14 49625174 49635230 - DNAAF2 protein_coding This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. 55172 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005515, protein binding, GO:0070286, GO:0070286, GO:0060285, GO:0032526, GO:0001539, axonemal dynein complex assembly, axonemal dynein complex assembly, cilium-dependent cell motility, response to retinoic acid, cilium or flagellum-dependent cell motility, 20 9 23 22 5 22 13 9 23 ENSG00000165507 chr10 44970981 44978810 - DEPP1 protein_coding The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]. 11067 GO:0043231, GO:0005777, GO:0005739, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, peroxisome, mitochondrion, mitochondrion, cytoplasm, GO:0010506, GO:0010506, GO:0006914, regulation of autophagy, regulation of autophagy, autophagy, 7 2 4 1 6 14 14 2 7 ENSG00000165509 chrX 141838316 141897832 + MAGEC3 protein_coding This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 139081 0 0 0 0 0 0 0 0 0 ENSG00000165511 chr10 44997698 45000888 - C10orf25 antisense 220979 GO:0005576, extracellular region, 0 0 1 0 1 0 0 6 0 ENSG00000165512 chr10 45000475 45005326 + ZNF22 protein_coding 7570 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0008270, GO:0003677, GO:0000981, GO:0000977, zinc ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0042476, GO:0006357, GO:0006355, odontogenesis, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 18 16 20 53 19 85 24 20 40 ENSG00000165516 chr14 49767608 49786385 + KLHDC2 protein_coding 23588 GO:0031965, GO:0016604, GO:0005654, nuclear membrane, nuclear body, nucleoplasm, GO:0005515, protein binding, 432 405 499 595 644 675 541 477 557 ENSG00000165521 chr14 88612431 88792752 - EML5 protein_coding 161436 GO:0070062, GO:0005874, GO:0005737, extracellular exosome, microtubule, cytoplasm, GO:0008017, GO:0003824, GO:0003674, microtubule binding, catalytic activity, molecular_function, GO:0008150, biological_process, 12 12 20 45 10 14 51 16 28 ENSG00000165525 chr14 49782083 49853203 - NEMF protein_coding This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]. 9147 GO:1990112, GO:0005634, RQC complex, nucleus, GO:0043023, GO:0000049, ribosomal large subunit binding, tRNA binding, GO:1990116, GO:0072344, GO:0051168, ribosome-associated ubiquitin-dependent protein catabolic process, rescue of stalled ribosome, nuclear export, 578 597 636 767 959 951 778 632 681 ENSG00000165526 chr11 126202094 126211692 - RPUSD4 protein_coding 84881 GO:0005759, mitochondrial matrix, GO:0009982, GO:0005515, GO:0003723, pseudouridine synthase activity, protein binding, RNA binding, GO:0070131, GO:0008033, GO:0000455, positive regulation of mitochondrial translation, tRNA processing, enzyme-directed rRNA pseudouridine synthesis, 13 17 23 66 20 36 40 9 23 ENSG00000165527 chr14 49893092 49897054 + ARF6 protein_coding This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008]. 382 GO:0098978, GO:0098793, GO:0090543, GO:0070062, GO:0055038, GO:0055038, GO:0055038, GO:0032154, GO:0031901, GO:0031527, GO:0030139, GO:0030139, GO:0016020, GO:0005938, GO:0005925, GO:0005886, GO:0005829, GO:0005794, GO:0005768, GO:0005768, GO:0005737, GO:0001726, GO:0001726, glutamatergic synapse, presynapse, Flemming body, extracellular exosome, recycling endosome membrane, recycling endosome membrane, recycling endosome membrane, cleavage furrow, early endosome membrane, filopodium membrane, endocytic vesicle, endocytic vesicle, membrane, cell cortex, focal adhesion, plasma membrane, cytosol, Golgi apparatus, endosome, endosome, cytoplasm, ruffle, ruffle, GO:0047485, GO:0031996, GO:0005525, GO:0005525, GO:0005515, GO:0003924, protein N-terminus binding, thioesterase binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:2000171, GO:2000009, GO:1990090, GO:1903078, GO:0120183, GO:0099562, GO:0097284, GO:0097178, GO:0090162, GO:0060998, GO:0060998, GO:0051549, GO:0051489, GO:0051301, GO:0050714, GO:0048488, GO:0048261, GO:0036010, GO:0036010, GO:0035020, GO:0034394, GO:0033028, GO:0032456, GO:0030866, GO:0030866, GO:0030838, GO:0016192, GO:0016192, GO:0007155, GO:0007049, GO:0006886, GO:0001889, negative regulation of dendrite development, negative regulation of protein localization to cell surface, cellular response to nerve growth factor stimulus, positive regulation of protein localization to plasma membrane, positive regulation of focal adhesion disassembly, maintenance of postsynaptic density structure, hepatocyte apoptotic process, ruffle assembly, establishment of epithelial cell polarity, regulation of dendritic spine development, regulation of dendritic spine development, positive regulation of keratinocyte migration, regulation of filopodium assembly, cell division, positive regulation of protein secretion, synaptic vesicle endocytosis, negative regulation of receptor-mediated endocytosis, protein localization to endosome, protein localization to endosome, regulation of Rac protein signal transduction, protein localization to cell surface, myeloid cell apoptotic process, endocytic recycling, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, positive regulation of actin filament polymerization, vesicle-mediated transport, vesicle-mediated transport, cell adhesion, cell cycle, intracellular protein transport, liver development, 1438 1344 1657 632 636 831 678 714 783 ENSG00000165533 chr14 88824153 88881078 + TTC8 protein_coding This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 123016 GO:0097730, GO:0060170, GO:0036064, GO:0036064, GO:0034464, GO:0034464, GO:0005929, GO:0005829, GO:0005813, non-motile cilium, ciliary membrane, ciliary basal body, ciliary basal body, BBSome, BBSome, cilium, cytosol, centrosome, GO:0005515, GO:0001103, protein binding, RNA polymerase II repressing transcription factor binding, GO:1905515, GO:0060271, GO:0050893, GO:0048560, GO:0015031, non-motile cilium assembly, cilium assembly, sensory processing, establishment of anatomical structure orientation, protein transport, 19 13 11 6 6 5 19 9 10 ENSG00000165548 chr14 77116568 77259495 + TMEM63C protein_coding 57156 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:1990760, GO:0005227, GO:0005227, osmolarity-sensing cation channel activity, calcium activated cation channel activity, calcium activated cation channel activity, GO:0098655, GO:0006812, GO:0003094, cation transmembrane transport, cation transport, glomerular filtration, 2 2 14 4 3 6 10 2 2 ENSG00000165553 chr14 77265483 77271312 - NGB protein_coding This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. [provided by RefSeq, Jul 2008]. 58157 GO:0043204, GO:0005829, GO:0005739, perikaryon, cytosol, mitochondrion, GO:0046872, GO:0020037, GO:0019825, GO:0005515, GO:0005344, metal ion binding, heme binding, oxygen binding, protein binding, oxygen carrier activity, GO:0015671, GO:0015671, GO:0006915, oxygen transport, oxygen transport, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000165555 chr14 77394021 77423517 - NOXRED1 protein_coding 122945 GO:0005575, cellular_component, GO:0004735, GO:0003674, pyrroline-5-carboxylate reductase activity, molecular_function, GO:0055129, GO:0055114, GO:0008150, L-proline biosynthetic process, oxidation-reduction process, biological_process, 30 28 23 38 33 35 38 34 27 ENSG00000165556 chr13 27962137 27971139 - CDX2 protein_coding This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]. 1045 GO:0017053, GO:0005654, GO:0005634, GO:0000794, GO:0000785, transcription repressor complex, nucleoplasm, nucleus, condensed nuclear chromosome, chromatin, GO:1990837, GO:0008327, GO:0005515, GO:0003714, GO:0003700, GO:0001227, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, methyl-CpG binding, protein binding, transcription corepressor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060711, GO:0060575, GO:0045893, GO:0045597, GO:0045197, GO:0035019, GO:0030154, GO:0014807, GO:0009948, GO:0009887, GO:0009790, GO:0008333, GO:0008284, GO:0006357, GO:0001829, GO:0001568, GO:0000122, labyrinthine layer development, intestinal epithelial cell differentiation, positive regulation of transcription, DNA-templated, positive regulation of cell differentiation, establishment or maintenance of epithelial cell apical/basal polarity, somatic stem cell population maintenance, cell differentiation, regulation of somitogenesis, anterior/posterior axis specification, animal organ morphogenesis, embryo development, endosome to lysosome transport, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, trophectodermal cell differentiation, blood vessel development, negative regulation of transcription by RNA polymerase II, 0 0 0 2 0 0 0 0 0 ENSG00000165566 chr13 25161684 25172288 - AMER2 protein_coding 219287 GO:0005886, GO:0005886, plasma membrane, plasma membrane, GO:0008013, GO:0005546, GO:0005546, GO:0005515, beta-catenin binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0090090, GO:0060828, GO:0016055, GO:0007398, negative regulation of canonical Wnt signaling pathway, regulation of canonical Wnt signaling pathway, Wnt signaling pathway, ectoderm development, 0 0 0 0 0 0 0 0 0 ENSG00000165568 chr10 4786629 4848062 + AKR1E2 protein_coding The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 83592 GO:0005829, GO:0005829, GO:0005794, GO:0005654, cytosol, cytosol, Golgi apparatus, nucleoplasm, GO:0050571, GO:0016491, GO:0004032, 1,5-anhydro-D-fructose reductase activity, oxidoreductase activity, alditol:NADP+ 1-oxidoreductase activity, GO:0055114, oxidation-reduction process, 1 0 1 0 0 4 2 1 4 ENSG00000165572 chr13 41127569 41132746 - KBTBD6 protein_coding 89890 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0043687, GO:0008150, post-translational protein modification, biological_process, 25 14 28 28 24 28 47 15 28 ENSG00000165583 chrX 48186220 48196763 - SSX5 protein_coding The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2013]. 6758 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000165584 chrX 48346428 48356707 - SSX3 protein_coding The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. [provided by RefSeq, Jul 2013]. 10214 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000165588 chr14 56799905 56810479 - OTX2 protein_coding This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]. 5015 GO:0032991, GO:0030426, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, growth cone, nucleus, nucleus, chromatin, GO:1990837, GO:0008190, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, eukaryotic initiation factor 4E binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000543, GO:0090009, GO:0071542, GO:0071542, GO:0065003, GO:0045944, GO:0045893, GO:0040036, GO:0040019, GO:0030901, GO:0030900, GO:0008589, GO:0007411, GO:0006357, positive regulation of gastrulation, primitive streak formation, dopaminergic neuron differentiation, dopaminergic neuron differentiation, protein-containing complex assembly, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of fibroblast growth factor receptor signaling pathway, positive regulation of embryonic development, midbrain development, forebrain development, regulation of smoothened signaling pathway, axon guidance, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000165591 chrX 57286706 57489196 + FAAH2 protein_coding This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]. 158584 GO:0016021, GO:0005811, integral component of membrane, lipid droplet, GO:0103073, GO:0102077, GO:0017064, anandamide amidohydrolase activity, oleamide hydrolase activity, fatty acid amide hydrolase activity, GO:0019369, GO:0016042, arachidonic acid metabolic process, lipid catabolic process, 14 1 6 15 6 19 13 4 7 ENSG00000165606 chr10 49364181 49396016 - DRGX protein_coding 644168 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0050954, GO:0021559, GO:0021516, GO:0016048, GO:0009593, GO:0007411, GO:0006357, GO:0001764, sensory perception of mechanical stimulus, trigeminal nerve development, dorsal spinal cord development, detection of temperature stimulus, detection of chemical stimulus, axon guidance, regulation of transcription by RNA polymerase II, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000165609 chr10 12165325 12196144 - NUDT5 protein_coding This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]. 11164 GO:0070062, GO:0005829, GO:0005634, GO:0005634, GO:0005634, extracellular exosome, cytosol, nucleus, nucleus, nucleus, GO:0050072, GO:0047631, GO:0047631, GO:0047631, GO:0044716, GO:0044715, GO:0042803, GO:0042802, GO:0030515, GO:0019144, GO:0016779, GO:0005515, GO:0000287, m7G(5')pppN diphosphatase activity, ADP-ribose diphosphatase activity, ADP-ribose diphosphatase activity, ADP-ribose diphosphatase activity, 8-oxo-GDP phosphatase activity, 8-oxo-dGDP phosphatase activity, protein homodimerization activity, identical protein binding, snoRNA binding, ADP-sugar diphosphatase activity, nucleotidyltransferase activity, protein binding, magnesium ion binding, GO:1990966, GO:0034656, GO:0019693, GO:0019303, GO:0019303, GO:0009191, GO:0009117, GO:0006753, GO:0006338, ATP generation from poly-ADP-D-ribose, nucleobase-containing small molecule catabolic process, ribose phosphate metabolic process, D-ribose catabolic process, D-ribose catabolic process, ribonucleoside diphosphate catabolic process, nucleotide metabolic process, nucleoside phosphate metabolic process, chromatin remodeling, 496 535 564 416 758 687 379 568 558 ENSG00000165617 chr14 58633967 58648321 + DACT1 protein_coding The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]. 51339 GO:0045202, GO:0030877, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, synapse, beta-catenin destruction complex, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0070097, GO:0051018, GO:0042826, GO:0008013, GO:0008013, GO:0005515, GO:0005080, GO:0001085, delta-catenin binding, protein kinase A binding, histone deacetylase binding, beta-catenin binding, beta-catenin binding, protein binding, protein kinase C binding, RNA polymerase II transcription factor binding, GO:2000134, GO:2000095, GO:2000095, GO:1904864, GO:1903364, GO:1903364, GO:1900107, GO:0090263, GO:0090090, GO:0090090, GO:0090090, GO:0090090, GO:0060828, GO:0048619, GO:0046329, GO:0046329, GO:0045732, GO:0032092, GO:0032091, GO:0031647, GO:0030178, GO:0030178, GO:0030178, GO:0030177, GO:0021915, GO:0016055, GO:0000122, negative regulation of G1/S transition of mitotic cell cycle, regulation of Wnt signaling pathway, planar cell polarity pathway, regulation of Wnt signaling pathway, planar cell polarity pathway, negative regulation of beta-catenin-TCF complex assembly, positive regulation of cellular protein catabolic process, positive regulation of cellular protein catabolic process, regulation of nodal signaling pathway, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, regulation of canonical Wnt signaling pathway, embryonic hindgut morphogenesis, negative regulation of JNK cascade, negative regulation of JNK cascade, positive regulation of protein catabolic process, positive regulation of protein binding, negative regulation of protein binding, regulation of protein stability, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, neural tube development, Wnt signaling pathway, negative regulation of transcription by RNA polymerase II, 2 1 3 4 0 1 4 1 1 ENSG00000165621 chr13 96985719 96994730 - OXGR1 protein_coding This gene encodes a G protein-coupled receptor (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 27199 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000165623 chr10 13221767 13234334 - UCMA protein_coding This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. 221044 GO:0031012, GO:0005737, GO:0005615, extracellular matrix, cytoplasm, extracellular space, GO:0036122, BMP binding, GO:0110150, GO:0060392, GO:0048706, GO:0045668, negative regulation of biomineralization, negative regulation of SMAD protein signal transduction, embryonic skeletal system development, negative regulation of osteoblast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000165626 chr10 13438484 13528974 - BEND7 protein_coding 222389 GO:0070062, extracellular exosome, GO:0005515, protein binding, 86 97 63 78 122 71 79 120 22 ENSG00000165629 chr10 7788129 7807815 + ATP5F1C protein_coding This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]. 509 GO:0016020, GO:0005759, GO:0005753, GO:0005743, GO:0005739, GO:0005739, GO:0000275, GO:0000275, membrane, mitochondrial matrix, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrion, mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1), mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1), GO:0046933, GO:0016887, GO:0005515, GO:0003723, proton-transporting ATP synthase activity, rotational mechanism, ATPase activity, protein binding, RNA binding, GO:0042776, GO:0042776, GO:0042407, GO:0015986, GO:0006754, GO:0006754, GO:0006119, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, ATP biosynthetic process, ATP biosynthetic process, oxidative phosphorylation, 163 126 177 135 170 190 139 136 120 ENSG00000165630 chr10 13586927 13630868 + PRPF18 protein_coding Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]. 8559 GO:0071021, GO:0046540, GO:0016607, GO:0005682, GO:0005681, GO:0005634, U2-type post-spliceosomal complex, U4/U6 x U5 tri-snRNP complex, nuclear speck, U5 snRNP, spliceosomal complex, nucleus, GO:0005515, protein binding, GO:0071048, GO:0008380, GO:0006397, GO:0000350, nuclear retention of unspliced pre-mRNA at the site of transcription, RNA splicing, mRNA processing, generation of catalytic spliceosome for second transesterification step, 104 126 74 59 73 73 38 104 63 ENSG00000165632 chr10 7818504 8016627 + TAF3 protein_coding The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]. 83860 GO:0031965, GO:0005669, GO:0005669, GO:0005654, GO:0005654, GO:0005634, nuclear membrane, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, GO:0140416, GO:0046982, GO:0046872, GO:0016251, GO:0005515, GO:0002039, transcription regulator inhibitor activity, protein heterodimerization activity, metal ion binding, RNA polymerase II general transcription initiation factor activity, protein binding, p53 binding, GO:1901796, GO:0051457, GO:0043433, GO:0006367, GO:0006366, GO:0000122, regulation of signal transduction by p53 class mediator, maintenance of protein location in nucleus, negative regulation of DNA-binding transcription factor activity, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 78 81 92 104 52 107 99 50 75 ENSG00000165633 chr10 49014245 49115509 - VSTM4 protein_coding 196740 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0005515, protein binding, 0 3 0 1 10 3 0 2 0 ENSG00000165637 chr10 75210154 75231448 + VDAC2 protein_coding This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein is also thought to be involved in the mitochondrial apoptotic pathway via regulation of BCL2-antagonist/killer 1 protein activity. Pseudogenes have been identified on chromosomes 1, 2, 12 and 21, and alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 7417 GO:0046930, GO:0042645, GO:0031966, GO:0016020, GO:0008021, GO:0005741, GO:0005739, GO:0005739, GO:0005634, GO:0001669, pore complex, mitochondrial nucleoid, mitochondrial membrane, membrane, synaptic vesicle, mitochondrial outer membrane, mitochondrion, mitochondrion, nucleus, acrosomal vesicle, GO:0097001, GO:0031210, GO:0015485, GO:0015288, GO:0008308, GO:0008308, GO:0005515, GO:0000166, ceramide binding, phosphatidylcholine binding, cholesterol binding, porin activity, voltage-gated anion channel activity, voltage-gated anion channel activity, protein binding, nucleotide binding, GO:2001243, GO:0098656, GO:0097345, GO:0032272, GO:0015698, GO:0007339, GO:0006820, negative regulation of intrinsic apoptotic signaling pathway, anion transmembrane transport, mitochondrial outer membrane permeabilization, negative regulation of protein polymerization, inorganic anion transport, binding of sperm to zona pellucida, anion transport, 378 266 336 249 255 206 184 210 175 ENSG00000165643 chr9 135693407 135699528 - SOHLH1 protein_coding This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]. 402381 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:0046982, GO:0042803, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein heterodimerization activity, protein homodimerization activity, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030154, GO:0030154, GO:0009994, GO:0007283, GO:0007275, GO:0006357, positive regulation of transcription by RNA polymerase II, cell differentiation, cell differentiation, oocyte differentiation, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000165644 chr10 75233969 75236030 - COMTD1 protein_coding 118881 GO:0016021, integral component of membrane, GO:0008757, GO:0008171, GO:0005515, S-adenosylmethionine-dependent methyltransferase activity, O-methyltransferase activity, protein binding, GO:0032259, methylation, 12 10 20 15 11 43 15 11 13 ENSG00000165646 chr10 117241073 117279430 + SLC18A2 protein_coding This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neurotransmitters into synaptic vesicles. Polymorphisms in this gene may be associated with schizophrenia, bipolar disorder, and other neurological/psychiatric ailments. [provided by RefSeq, Jun 2018]. 6571 GO:0070083, GO:0043231, GO:0043195, GO:0030672, GO:0016020, GO:0008021, GO:0005887, GO:0005886, GO:0005813, clathrin-sculpted monoamine transport vesicle membrane, intracellular membrane-bounded organelle, terminal bouton, synaptic vesicle membrane, membrane, synaptic vesicle, integral component of plasma membrane, plasma membrane, centrosome, GO:0022857, GO:0008504, GO:0005515, GO:0005335, transmembrane transporter activity, monoamine transmembrane transporter activity, protein binding, serotonin:sodium symporter activity, GO:1903427, GO:0098700, GO:0055085, GO:0051610, GO:0042137, GO:0015872, GO:0015844, GO:0015842, GO:0009791, GO:0009636, GO:0007626, GO:0007269, GO:0007268, GO:0001975, negative regulation of reactive oxygen species biosynthetic process, neurotransmitter loading into synaptic vesicle, transmembrane transport, serotonin uptake, sequestering of neurotransmitter, dopamine transport, monoamine transport, aminergic neurotransmitter loading into synaptic vesicle, post-embryonic development, response to toxic substance, locomotory behavior, neurotransmitter secretion, chemical synaptic transmission, response to amphetamine, 66 152 88 97 250 131 87 205 119 ENSG00000165650 chr10 117277274 117375467 - PDZD8 protein_coding 118987 GO:0044233, GO:0016021, GO:0016020, GO:0005789, GO:0005739, mitochondria-associated endoplasmic reticulum membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, mitochondrion, GO:0046872, GO:0008289, metal ion binding, lipid binding, GO:1990456, GO:0051560, GO:0035556, GO:0022604, GO:0016032, GO:0007010, GO:0006869, mitochondrion-endoplasmic reticulum membrane tethering, mitochondrial calcium ion homeostasis, intracellular signal transduction, regulation of cell morphogenesis, viral process, cytoskeleton organization, lipid transport, 1155 1937 1330 651 1951 1045 908 1595 926 ENSG00000165655 chr10 75397830 75401906 - ZNF503 protein_coding 84858 GO:0005634, nucleus, GO:0070491, GO:0046872, GO:0005515, repressing transcription factor binding, metal ion binding, protein binding, GO:0070315, GO:0061351, GO:0045892, GO:0010629, GO:0008285, G1 to G0 transition involved in cell differentiation, neural precursor cell proliferation, negative regulation of transcription, DNA-templated, negative regulation of gene expression, negative regulation of cell population proliferation, 0 0 3 0 3 11 2 0 0 ENSG00000165660 chr10 124801785 124836670 + ABRAXAS2 protein_coding 23172 GO:0070552, GO:0036449, GO:0031616, GO:0030496, GO:0005829, GO:0005813, GO:0005737, GO:0005634, BRISC complex, microtubule minus-end, spindle pole centrosome, midbody, cytosol, centrosome, cytoplasm, nucleus, GO:0031593, GO:0031593, GO:0008017, GO:0008017, GO:0005515, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, microtubule binding, microtubule binding, protein binding, GO:0090307, GO:0090307, GO:0070536, GO:0070536, GO:0051301, GO:0016579, GO:0008608, GO:0008608, GO:0007059, GO:0002931, GO:0000278, mitotic spindle assembly, mitotic spindle assembly, protein K63-linked deubiquitination, protein K63-linked deubiquitination, cell division, protein deubiquitination, attachment of spindle microtubules to kinetochore, attachment of spindle microtubules to kinetochore, chromosome segregation, response to ischemia, mitotic cell cycle, 56 53 75 50 59 36 64 30 49 ENSG00000165661 chr9 136206333 136245841 - QSOX2 protein_coding QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]. 169714 GO:0031965, GO:0030173, GO:0005886, GO:0005794, GO:0005654, GO:0005615, nuclear membrane, integral component of Golgi membrane, plasma membrane, Golgi apparatus, nucleoplasm, extracellular space, GO:0016971, GO:0003756, flavin-linked sulfhydryl oxidase activity, protein disulfide isomerase activity, GO:0055114, GO:0006457, oxidation-reduction process, protein folding, 141 165 139 148 199 169 135 138 117 ENSG00000165669 chr10 118297930 118342328 - FAM204A protein_coding 63877 GO:0005515, protein binding, 180 129 211 146 133 163 108 106 123 ENSG00000165671 chr5 177133025 177300215 + NSD1 protein_coding This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]. 64324 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0050681, GO:0046975, GO:0046975, GO:0046975, GO:0046966, GO:0046965, GO:0042974, GO:0042799, GO:0030331, GO:0008270, GO:0005515, GO:0003714, GO:0003712, GO:0003682, GO:0000978, androgen receptor binding, histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K36 specific), thyroid hormone receptor binding, retinoid X receptor binding, retinoic acid receptor binding, histone methyltransferase activity (H4-K20 specific), estrogen receptor binding, zinc ion binding, protein binding, transcription corepressor activity, transcription coregulator activity, chromatin binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903025, GO:0045893, GO:0034770, GO:0033135, GO:0016571, GO:0010452, GO:0006355, GO:0000414, GO:0000122, regulation of RNA polymerase II regulatory region sequence-specific DNA binding, positive regulation of transcription, DNA-templated, histone H4-K20 methylation, regulation of peptidyl-serine phosphorylation, histone methylation, histone H3-K36 methylation, regulation of transcription, DNA-templated, regulation of histone H3-K36 methylation, negative regulation of transcription by RNA polymerase II, 2116 2342 2595 1219 1579 1614 1456 1262 1312 ENSG00000165672 chr10 119167703 119178833 - PRDX3 protein_coding This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014]. 10935 GO:0032991, GO:0005829, GO:0005769, GO:0005759, GO:0005739, GO:0005739, GO:0005737, GO:0005737, protein-containing complex, cytosol, early endosome, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, cytoplasm, GO:0043027, GO:0042802, GO:0019901, GO:0019900, GO:0008785, GO:0008379, GO:0008379, GO:0008022, GO:0005515, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, identical protein binding, protein kinase binding, kinase binding, alkyl hydroperoxide reductase activity, thioredoxin peroxidase activity, thioredoxin peroxidase activity, protein C-terminus binding, protein binding, GO:0098869, GO:0051881, GO:0051092, GO:0045454, GO:0043154, GO:0043066, GO:0043066, GO:0042744, GO:0042744, GO:0042542, GO:0034614, GO:0034599, GO:0034599, GO:0034599, GO:0033673, GO:0032496, GO:0030099, GO:0018171, GO:0008284, GO:0007005, GO:0006979, GO:0006915, GO:0001893, cellular oxidant detoxification, regulation of mitochondrial membrane potential, positive regulation of NF-kappaB transcription factor activity, cell redox homeostasis, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, response to hydrogen peroxide, cellular response to reactive oxygen species, cellular response to oxidative stress, cellular response to oxidative stress, cellular response to oxidative stress, negative regulation of kinase activity, response to lipopolysaccharide, myeloid cell differentiation, peptidyl-cysteine oxidation, positive regulation of cell population proliferation, mitochondrion organization, response to oxidative stress, apoptotic process, maternal placenta development, 400 281 420 108 224 188 173 175 161 ENSG00000165675 chrX 130623369 130903317 - ENOX2 protein_coding This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 10495 GO:0009897, GO:0005886, GO:0005829, GO:0005615, external side of plasma membrane, plasma membrane, cytosol, extracellular space, GO:0015035, GO:0003676, protein disulfide oxidoreductase activity, nucleic acid binding, GO:0055114, GO:0040008, GO:0007624, oxidation-reduction process, regulation of growth, ultradian rhythm, 22 34 33 34 19 40 29 24 33 ENSG00000165678 chr10 84139440 84153245 + GHITM protein_coding 27069 GO:0070062, GO:0031305, GO:0005739, extracellular exosome, integral component of mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1905448, GO:0090201, GO:0008150, GO:0007007, GO:0006915, positive regulation of mitochondrial ATP synthesis coupled electron transport, negative regulation of release of cytochrome c from mitochondria, biological_process, inner mitochondrial membrane organization, apoptotic process, 2062 1671 2192 1204 1356 1386 1130 1194 1034 ENSG00000165682 chr12 9985642 10013424 - CLEC1B protein_coding Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]. 51266 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0030246, GO:0005515, GO:0004888, carbohydrate binding, protein binding, transmembrane signaling receptor activity, GO:0030220, GO:0030168, GO:0023014, GO:0016032, GO:0007166, GO:0006952, platelet formation, platelet activation, signal transduction by protein phosphorylation, viral process, cell surface receptor signaling pathway, defense response, 235 278 162 139 279 157 228 245 107 ENSG00000165684 chr9 136375577 136400168 - SNAPC4 protein_coding This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]. 6621 GO:0019185, GO:0005654, GO:0005634, snRNA-activating protein complex, nucleoplasm, nucleus, GO:0016251, GO:0003677, GO:0000995, RNA polymerase II general transcription initiation factor activity, DNA binding, RNA polymerase III general transcription initiation factor activity, GO:0042796, GO:0042795, GO:0042795, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, 143 176 174 125 166 154 152 128 132 ENSG00000165685 chr12 10170542 10191801 + TMEM52B protein_coding 120939 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 1 2 11 0 5 17 8 7 11 ENSG00000165688 chr9 136410570 136423761 + PMPCA protein_coding The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]. 23203 GO:0005759, GO:0005743, GO:0005743, GO:0005739, GO:0005739, GO:0005615, mitochondrial matrix, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, extracellular space, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0006851, GO:0006627, GO:0006627, GO:0006627, mitochondrial calcium ion transmembrane transport, protein processing involved in protein targeting to mitochondrion, protein processing involved in protein targeting to mitochondrion, protein processing involved in protein targeting to mitochondrion, 226 275 286 239 194 240 207 180 170 ENSG00000165689 chr9 136401922 136410609 - ENTR1 protein_coding 10807 GO:0055037, GO:0055037, GO:0036064, GO:0036064, GO:0030904, GO:0030904, GO:0030496, GO:0030496, GO:0005813, GO:0005813, GO:0005769, GO:0005769, GO:0005768, recycling endosome, recycling endosome, ciliary basal body, ciliary basal body, retromer complex, retromer complex, midbody, midbody, centrosome, centrosome, early endosome, early endosome, endosome, GO:0005515, protein binding, GO:1990126, GO:1990126, GO:1903566, GO:1903566, GO:0051301, GO:0045724, GO:0045724, GO:0032465, GO:0032465, GO:0030030, GO:0015031, GO:0007049, retrograde transport, endosome to plasma membrane, retrograde transport, endosome to plasma membrane, positive regulation of protein localization to cilium, positive regulation of protein localization to cilium, cell division, positive regulation of cilium assembly, positive regulation of cilium assembly, regulation of cytokinesis, regulation of cytokinesis, cell projection organization, protein transport, cell cycle, 33 36 68 87 66 104 73 65 76 ENSG00000165694 chrX 132076993 132128020 - FRMD7 protein_coding Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]. 90167 GO:0043025, GO:0043005, GO:0030426, GO:0005856, GO:0005615, neuronal cell body, neuron projection, growth cone, cytoskeleton, extracellular space, GO:0005515, GO:0005085, GO:0003674, protein binding, guanyl-nucleotide exchange factor activity, molecular_function, GO:0051497, GO:0051057, GO:0032091, GO:0010975, GO:0010592, negative regulation of stress fiber assembly, positive regulation of small GTPase mediated signal transduction, negative regulation of protein binding, regulation of neuron projection development, positive regulation of lamellipodium assembly, 0 0 0 0 0 0 0 0 0 ENSG00000165695 chr9 132725578 132878777 - AK8 protein_coding 158067 GO:0036126, GO:0005930, GO:0005829, GO:0005737, sperm flagellum, axoneme, cytosol, cytoplasm, GO:0005524, GO:0005515, GO:0004550, GO:0004550, GO:0004127, GO:0004127, GO:0004017, GO:0004017, ATP binding, protein binding, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, cytidylate kinase activity, cytidylate kinase activity, adenylate kinase activity, adenylate kinase activity, GO:0046940, GO:0021591, GO:0015949, GO:0009142, GO:0009142, GO:0006165, GO:0006165, GO:0006163, nucleoside monophosphate phosphorylation, ventricular system development, nucleobase-containing small molecule interconversion, nucleoside triphosphate biosynthetic process, nucleoside triphosphate biosynthetic process, nucleoside diphosphate phosphorylation, nucleoside diphosphate phosphorylation, purine nucleotide metabolic process, 0 4 0 1 0 3 2 0 0 ENSG00000165698 chr9 132878027 132890201 + SPACA9 protein_coding 11092 GO:0097546, GO:0036126, GO:0036064, GO:0005881, GO:0005634, GO:0001669, ciliary base, sperm flagellum, ciliary basal body, cytoplasmic microtubule, nucleus, acrosomal vesicle, GO:0048306, GO:0005515, calcium-dependent protein binding, protein binding, 8 17 6 5 13 9 7 16 4 ENSG00000165699 chr9 132891348 132946874 - TSC1 protein_coding This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]. 7248 GO:0101031, GO:0048471, GO:0033596, GO:0033596, GO:0032991, GO:0030027, GO:0016020, GO:0014069, GO:0005938, GO:0005886, GO:0005884, GO:0005829, GO:0005829, GO:0005811, GO:0005737, GO:0005634, chaperone complex, perinuclear region of cytoplasm, TSC1-TSC2 complex, TSC1-TSC2 complex, protein-containing complex, lamellipodium, membrane, postsynaptic density, cell cortex, plasma membrane, actin filament, cytosol, cytosol, lipid droplet, cytoplasm, nucleus, GO:0051879, GO:0051087, GO:0047485, GO:0042030, GO:0030544, GO:0005515, Hsp90 protein binding, chaperone binding, protein N-terminus binding, ATPase inhibitor activity, Hsp70 protein binding, protein binding, GO:1901214, GO:0090650, GO:0090630, GO:0055007, GO:0051894, GO:0051726, GO:0051492, GO:0050821, GO:0050821, GO:0050808, GO:0046627, GO:0046323, GO:0045859, GO:0045792, GO:0043666, GO:0043379, GO:0042552, GO:0032868, GO:0032780, GO:0032007, GO:0032007, GO:0032007, GO:0030030, GO:0021987, GO:0021766, GO:0017148, GO:0016242, GO:0008344, GO:0008285, GO:0007160, GO:0006813, GO:0006417, GO:0006407, GO:0002250, GO:0001952, GO:0001843, GO:0001822, regulation of neuron death, cellular response to oxygen-glucose deprivation, activation of GTPase activity, cardiac muscle cell differentiation, positive regulation of focal adhesion assembly, regulation of cell cycle, regulation of stress fiber assembly, protein stabilization, protein stabilization, synapse organization, negative regulation of insulin receptor signaling pathway, glucose import, regulation of protein kinase activity, negative regulation of cell size, regulation of phosphoprotein phosphatase activity, memory T cell differentiation, myelination, response to insulin, negative regulation of ATPase activity, negative regulation of TOR signaling, negative regulation of TOR signaling, negative regulation of TOR signaling, cell projection organization, cerebral cortex development, hippocampus development, negative regulation of translation, negative regulation of macroautophagy, adult locomotory behavior, negative regulation of cell population proliferation, cell-matrix adhesion, potassium ion transport, regulation of translation, rRNA export from nucleus, adaptive immune response, regulation of cell-matrix adhesion, neural tube closure, kidney development, 399 454 470 442 596 503 414 365 328 ENSG00000165702 chr9 132944000 132991687 + GFI1B protein_coding This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. 8328 GO:0016363, GO:0005886, GO:0005667, GO:0005654, GO:0005634, GO:0005634, nuclear matrix, plasma membrane, transcription regulator complex, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0001085, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000134, GO:1903706, GO:0045944, GO:0007275, GO:0006357, GO:0006325, GO:0000122, negative regulation of G1/S transition of mitotic cell cycle, regulation of hemopoiesis, positive regulation of transcription by RNA polymerase II, multicellular organism development, regulation of transcription by RNA polymerase II, chromatin organization, negative regulation of transcription by RNA polymerase II, 23 25 31 2 6 5 10 9 22 ENSG00000165704 chrX 134460153 134520513 + HPRT1 protein_coding The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]. 3251 GO:0070062, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytosol, cytoplasm, GO:0052657, GO:0042802, GO:0005515, GO:0004422, GO:0004422, GO:0000287, GO:0000287, GO:0000166, guanine phosphoribosyltransferase activity, identical protein binding, protein binding, hypoxanthine phosphoribosyltransferase activity, hypoxanthine phosphoribosyltransferase activity, magnesium ion binding, magnesium ion binding, nucleotide binding, GO:0051289, GO:0048813, GO:0046651, GO:0046100, GO:0046100, GO:0046040, GO:0046038, GO:0045964, GO:0043103, GO:0043101, GO:0042417, GO:0032264, GO:0032264, GO:0032263, GO:0021954, GO:0021895, GO:0021756, GO:0007626, GO:0007625, GO:0006178, GO:0006178, GO:0006168, GO:0006166, GO:0006164, GO:0001975, GO:0001913, protein homotetramerization, dendrite morphogenesis, lymphocyte proliferation, hypoxanthine metabolic process, hypoxanthine metabolic process, IMP metabolic process, GMP catabolic process, positive regulation of dopamine metabolic process, hypoxanthine salvage, purine-containing compound salvage, dopamine metabolic process, IMP salvage, IMP salvage, GMP salvage, central nervous system neuron development, cerebral cortex neuron differentiation, striatum development, locomotory behavior, grooming behavior, guanine salvage, guanine salvage, adenine salvage, purine ribonucleoside salvage, purine nucleotide biosynthetic process, response to amphetamine, T cell mediated cytotoxicity, 78 49 50 70 45 57 25 41 56 ENSG00000165714 chr12 12357079 12469694 + BORCS5 protein_coding 118426 GO:0099078, GO:0099078, GO:0098574, GO:0098574, GO:0031224, GO:0031224, GO:0030672, GO:0005873, GO:0005873, BORC complex, BORC complex, cytoplasmic side of lysosomal membrane, cytoplasmic side of lysosomal membrane, intrinsic component of membrane, intrinsic component of membrane, synaptic vesicle membrane, plus-end kinesin complex, plus-end kinesin complex, GO:0005515, protein binding, GO:1903744, GO:0072384, GO:0072384, GO:0032418, GO:0032418, positive regulation of anterograde synaptic vesicle transport, organelle transport along microtubule, organelle transport along microtubule, lysosome localization, lysosome localization, 105 92 115 91 102 92 51 74 66 ENSG00000165716 chr9 136712570 136724050 + FAM69B protein_coding This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]. 138311 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, 5 4 11 0 9 12 6 2 6 ENSG00000165724 chr9 137582079 137590490 - ZMYND19 protein_coding ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]. 116225 GO:0045202, GO:0005886, GO:0005737, synapse, plasma membrane, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, 10 6 7 20 7 16 10 1 10 ENSG00000165730 chr10 68827541 68895432 + STOX1 protein_coding The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 219736 GO:0005938, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0001650, cell cortex, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, fibrillar center, GO:0005515, GO:0000977, protein binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1904120, GO:1904031, GO:1902882, GO:1901858, GO:0071500, GO:0061418, GO:0051897, GO:0051881, GO:0051301, GO:0050679, GO:0048839, GO:0033138, GO:0010971, GO:0010821, GO:0010800, GO:0010629, GO:0010628, GO:0010468, GO:0008284, GO:0007049, positive regulation of otic vesicle morphogenesis, positive regulation of cyclin-dependent protein kinase activity, regulation of response to oxidative stress, regulation of mitochondrial DNA metabolic process, cellular response to nitrosative stress, regulation of transcription from RNA polymerase II promoter in response to hypoxia, positive regulation of protein kinase B signaling, regulation of mitochondrial membrane potential, cell division, positive regulation of epithelial cell proliferation, inner ear development, positive regulation of peptidyl-serine phosphorylation, positive regulation of G2/M transition of mitotic cell cycle, regulation of mitochondrion organization, positive regulation of peptidyl-threonine phosphorylation, negative regulation of gene expression, positive regulation of gene expression, regulation of gene expression, positive regulation of cell population proliferation, cell cycle, 1 1 1 0 1 11 2 1 3 ENSG00000165731 chr10 43077027 43130351 + RET protein_coding This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]. 5979 GO:0098797, GO:0045121, GO:0043235, GO:0043235, GO:0043025, GO:0030425, GO:0030424, GO:0010008, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005769, plasma membrane protein complex, membrane raft, receptor complex, receptor complex, neuronal cell body, dendrite, axon, endosome membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, early endosome, GO:0038023, GO:0005524, GO:0005515, GO:0005509, GO:0004714, GO:0004714, GO:0004714, GO:0004713, signaling receptor activity, ATP binding, protein binding, calcium ion binding, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2001241, GO:0097021, GO:0072300, GO:0071300, GO:0061146, GO:0060384, GO:0060041, GO:0051897, GO:0050770, GO:0048484, GO:0048265, GO:0045893, GO:0045793, GO:0043410, GO:0042551, GO:0042493, GO:0035860, GO:0035799, GO:0033674, GO:0033630, GO:0033619, GO:0033141, GO:0030335, GO:0030155, GO:0018108, GO:0014042, GO:0010976, GO:0007497, GO:0007411, GO:0007275, GO:0007169, GO:0007165, GO:0007158, GO:0007156, GO:0006468, GO:0001838, GO:0001755, GO:0001657, GO:0000187, GO:0000165, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, lymphocyte migration into lymphoid organs, positive regulation of metanephric glomerulus development, cellular response to retinoic acid, Peyer's patch morphogenesis, innervation, retina development in camera-type eye, positive regulation of protein kinase B signaling, regulation of axonogenesis, enteric nervous system development, response to pain, positive regulation of transcription, DNA-templated, positive regulation of cell size, positive regulation of MAPK cascade, neuron maturation, response to drug, glial cell-derived neurotrophic factor receptor signaling pathway, ureter maturation, positive regulation of kinase activity, positive regulation of cell adhesion mediated by integrin, membrane protein proteolysis, positive regulation of peptidyl-serine phosphorylation of STAT protein, positive regulation of cell migration, regulation of cell adhesion, peptidyl-tyrosine phosphorylation, positive regulation of neuron maturation, positive regulation of neuron projection development, posterior midgut development, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, neuron cell-cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, protein phosphorylation, embryonic epithelial tube formation, neural crest cell migration, ureteric bud development, activation of MAPK activity, MAPK cascade, 0 0 0 2 1 1 6 0 0 ENSG00000165732 chr10 68956128 68985073 + DDX21 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]. 9188 GO:0016020, GO:0005829, GO:0005739, GO:0005730, GO:0005730, GO:0005654, GO:0005654, membrane, cytosol, mitochondrion, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0097322, GO:0042802, GO:0035198, GO:0030515, GO:0019843, GO:0005524, GO:0005515, GO:0003725, GO:0003724, GO:0003724, GO:0003724, GO:0003723, GO:0003723, 7SK snRNA binding, identical protein binding, miRNA binding, snoRNA binding, rRNA binding, ATP binding, protein binding, double-stranded RNA binding, RNA helicase activity, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, GO:0062176, GO:0051607, GO:0045815, GO:0045087, GO:0043330, GO:0043123, GO:0006366, GO:0006364, GO:0002735, GO:0001649, R-loop disassembly, defense response to virus, positive regulation of gene expression, epigenetic, innate immune response, response to exogenous dsRNA, positive regulation of I-kappaB kinase/NF-kappaB signaling, transcription by RNA polymerase II, rRNA processing, positive regulation of myeloid dendritic cell cytokine production, osteoblast differentiation, 3678 2900 4324 2581 1811 2806 2638 1432 1896 ENSG00000165733 chr10 42782801 42834937 + BMS1 protein_coding This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]. 9790 GO:0030686, GO:0005730, GO:0005730, GO:0005654, GO:0005654, 90S preribosome, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0034511, GO:0005525, GO:0005524, GO:0003924, GO:0003723, U3 snoRNA binding, GTP binding, ATP binding, GTPase activity, RNA binding, GO:0006364, GO:0000479, GO:0000462, rRNA processing, endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 35 25 58 71 32 123 76 36 79 ENSG00000165752 chr10 132207492 132331847 - STK32C protein_coding The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 282974 GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0035556, GO:0018105, intracellular signal transduction, peptidyl-serine phosphorylation, 16 18 13 8 26 21 4 7 10 ENSG00000165757 chr10 30012800 30115494 - JCAD protein_coding This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [provided by RefSeq, Mar 2017]. 57608 GO:0048471, GO:0032587, GO:0032587, GO:0005912, GO:0005912, perinuclear region of cytoplasm, ruffle membrane, ruffle membrane, adherens junction, adherens junction, GO:1903589, GO:1903589, GO:1900748, GO:0090050, GO:0043410, GO:0007155, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of vascular endothelial growth factor signaling pathway, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of MAPK cascade, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000165762 chr14 19875142 19883932 + OR4K2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390431 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 1 0 0 ENSG00000165775 chrX 155025980 155060303 + FUNDC2 protein_coding 65991 GO:0031307, GO:0005739, GO:0005739, GO:0005634, integral component of mitochondrial outer membrane, mitochondrion, mitochondrion, nucleus, GO:0005515, protein binding, GO:0000422, autophagy of mitochondrion, 98 121 131 176 105 144 135 86 95 ENSG00000165782 chr14 20457719 20461612 - PIP4P1 protein_coding TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]. 90809 GO:0031902, GO:0031902, GO:0030670, GO:0016021, GO:0005886, GO:0005765, GO:0005654, late endosome membrane, late endosome membrane, phagocytic vesicle membrane, integral component of membrane, plasma membrane, lysosomal membrane, nucleoplasm, GO:0034597, GO:0034597, GO:0005515, phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity, protein binding, GO:1904263, GO:0070070, GO:0046856, GO:0032418, GO:0008203, GO:0006991, GO:0006644, positive regulation of TORC1 signaling, proton-transporting V-type ATPase complex assembly, phosphatidylinositol dephosphorylation, lysosome localization, cholesterol metabolic process, response to sterol depletion, phospholipid metabolic process, 752 1029 905 13847 13905 14190 13104 10420 9713 ENSG00000165792 chr14 20989770 20997035 + METTL17 protein_coding 64745 GO:0005759, GO:0005739, GO:0005654, mitochondrial matrix, mitochondrion, nucleoplasm, GO:1904047, GO:0097177, GO:0008168, GO:0005515, S-adenosyl-L-methionine binding, mitochondrial ribosome binding, methyltransferase activity, protein binding, GO:0042274, GO:0032259, GO:0006412, ribosomal small subunit biogenesis, methylation, translation, 25 24 63 76 34 66 81 15 53 ENSG00000165794 chr14 20999255 21001871 + SLC39A2 protein_coding This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010]. 29986 GO:0036464, GO:0031410, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005886, cytoplasmic ribonucleoprotein granule, cytoplasmic vesicle, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005385, GO:0005385, protein binding, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0071577, GO:0006829, zinc ion transmembrane transport, zinc ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000165795 chr14 21016763 21070872 - NDRG2 protein_coding This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]. 57447 GO:0070062, GO:0048471, GO:0030426, GO:0005829, GO:0005794, GO:0005737, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, growth cone, cytosol, Golgi apparatus, cytoplasm, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0090361, GO:0070373, GO:0048662, GO:0030154, GO:0021762, GO:0016055, GO:0010574, GO:0007165, GO:0001818, regulation of platelet-derived growth factor production, negative regulation of ERK1 and ERK2 cascade, negative regulation of smooth muscle cell proliferation, cell differentiation, substantia nigra development, Wnt signaling pathway, regulation of vascular endothelial growth factor production, signal transduction, negative regulation of cytokine production, 2 11 11 22 14 12 13 9 18 ENSG00000165799 chr14 21042226 21044234 + RNASE7 protein_coding The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein has broad-spectrum antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]. 84659 GO:0005737, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, cytoplasm, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0042834, GO:0004540, GO:0004540, GO:0004519, GO:0003676, GO:0001530, peptidoglycan binding, ribonuclease activity, ribonuclease activity, endonuclease activity, nucleic acid binding, lipopolysaccharide binding, GO:0090501, GO:0061844, GO:0051673, GO:0050832, GO:0050832, GO:0050830, GO:0050830, GO:0050829, GO:0050829, GO:0045087, GO:0045087, GO:0045087, GO:0019731, GO:0019730, RNA phosphodiester bond hydrolysis, antimicrobial humoral immune response mediated by antimicrobial peptide, membrane disruption in other organism, defense response to fungus, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, innate immune response, innate immune response, innate immune response, antibacterial humoral response, antimicrobial humoral response, 0 0 0 0 2 0 0 2 1 ENSG00000165801 chr14 21070270 21090240 + ARHGEF40 protein_coding This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]. 55701 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0005085, guanyl-nucleotide exchange factor activity, 1755 2810 2069 1096 2482 1625 1265 2168 1639 ENSG00000165802 chr9 137447573 137459334 - NSMF protein_coding The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 26012 GO:0097440, GO:0045202, GO:0043204, GO:0043005, GO:0031965, GO:0030863, GO:0030425, GO:0016363, GO:0016020, GO:0014069, GO:0005886, GO:0005737, GO:0005654, GO:0005635, GO:0005634, GO:0000791, apical dendrite, synapse, perikaryon, neuron projection, nuclear membrane, cortical cytoskeleton, dendrite, nuclear matrix, membrane, postsynaptic density, plasma membrane, cytoplasm, nucleoplasm, nuclear envelope, nucleus, euchromatin, GO:0048306, calcium-dependent protein binding, GO:2001224, GO:0071371, GO:0071257, GO:0071230, GO:0048814, GO:0048168, GO:0043523, GO:0035307, positive regulation of neuron migration, cellular response to gonadotropin stimulus, cellular response to electrical stimulus, cellular response to amino acid stimulus, regulation of dendrite morphogenesis, regulation of neuronal synaptic plasticity, regulation of neuron apoptotic process, positive regulation of protein dephosphorylation, 36 42 72 130 56 73 137 45 74 ENSG00000165804 chr14 21090046 21104722 - ZNF219 protein_coding This gene is a member of the Kruppel-like zinc finger gene family. The encoded protein functions as a transcriptional repressor of the high mobility group nucleosome binding domain 1 protein, which is associated with transcriptionally active chromatin. [provided by RefSeq, Apr 2017]. 51222 GO:0016021, GO:0005654, GO:0005634, GO:0005634, integral component of membrane, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0004969, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000978, GO:0000978, metal ion binding, protein binding, histamine receptor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060174, GO:0045944, GO:0045892, GO:0032332, GO:0007186, GO:0006355, GO:0006355, GO:0001505, GO:0000122, limb bud formation, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of chondrocyte differentiation, G protein-coupled receptor signaling pathway, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, regulation of neurotransmitter levels, negative regulation of transcription by RNA polymerase II, 81 86 108 65 145 108 76 110 67 ENSG00000165805 chr12 87980035 88034037 - C12orf50 protein_coding 160419 GO:0000346, transcription export complex, GO:0005515, GO:0003729, protein binding, mRNA binding, GO:0016973, poly(A)+ mRNA export from nucleus, 2 0 1 1 0 1 2 3 1 ENSG00000165806 chr10 113679162 113730907 + CASP7 protein_coding This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 840 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0097200, GO:0097200, GO:0097153, GO:0008234, GO:0008233, GO:0005515, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic process, cysteine-type peptidase activity, peptidase activity, protein binding, GO:0097194, GO:0097194, GO:0072734, GO:0006915, GO:0006915, GO:0006508, execution phase of apoptosis, execution phase of apoptosis, cellular response to staurosporine, apoptotic process, apoptotic process, proteolysis, 36 20 31 57 38 67 43 42 35 ENSG00000165807 chr14 64549902 64589380 + PPP1R36 protein_coding 145376 GO:0019902, GO:0004864, phosphatase binding, protein phosphatase inhibitor activity, GO:0032515, GO:0010923, GO:0010923, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 1 1 1 0 3 0 0 0 0 ENSG00000165810 chr5 181040225 181061523 + BTNL9 protein_coding 153579 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0005102, signaling receptor binding, GO:0050852, GO:0001817, T cell receptor signaling pathway, regulation of cytokine production, 0 1 0 2 3 2 2 1 2 ENSG00000165813 chr10 114120862 114174232 - CCDC186 protein_coding 55088 GO:0005794, Golgi apparatus, GO:0099518, GO:0035773, GO:0009617, vesicle cytoskeletal trafficking, insulin secretion involved in cellular response to glucose stimulus, response to bacterium, 1566 1406 1962 748 1056 1186 949 762 1037 ENSG00000165816 chr10 114239330 114291513 + VWA2 protein_coding This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]. 340706 GO:0070062, GO:0062023, GO:0005615, GO:0005615, GO:0005604, extracellular exosome, collagen-containing extracellular matrix, extracellular space, extracellular space, basement membrane, GO:0042802, GO:0005515, GO:0005509, identical protein binding, protein binding, calcium ion binding, GO:0046626, GO:0007161, regulation of insulin receptor signaling pathway, calcium-independent cell-matrix adhesion, 0 0 0 0 0 1 0 0 0 ENSG00000165819 chr14 21498133 21511375 - METTL3 protein_coding This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008]. 56339 GO:0036396, GO:0036396, GO:0016607, GO:0016607, GO:0005737, GO:0005654, GO:0005634, GO:0005634, RNA N6-methyladenosine methyltransferase complex, RNA N6-methyladenosine methyltransferase complex, nuclear speck, nuclear speck, cytoplasm, nucleoplasm, nucleus, nucleus, GO:1904047, GO:0046982, GO:0046982, GO:0016422, GO:0008173, GO:0008168, GO:0005515, GO:0003729, GO:0001734, GO:0001734, S-adenosyl-L-methionine binding, protein heterodimerization activity, protein heterodimerization activity, mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity, RNA methyltransferase activity, methyltransferase activity, protein binding, mRNA binding, mRNA (N6-adenosine)-methyltransferase activity, mRNA (N6-adenosine)-methyltransferase activity, GO:1990744, GO:1990744, GO:1903679, GO:1902036, GO:0098508, GO:0080009, GO:0080009, GO:0061157, GO:0060339, GO:0051445, GO:0045746, GO:0045727, GO:0045580, GO:0045087, GO:0042063, GO:0034644, GO:0031053, GO:0021861, GO:0019827, GO:0016070, GO:0009048, GO:0007623, GO:0007283, GO:0006974, GO:0006402, GO:0006397, GO:0006382, GO:0001510, GO:0001510, GO:0000398, GO:0000398, GO:0000398, primary miRNA methylation, primary miRNA methylation, positive regulation of cap-independent translational initiation, regulation of hematopoietic stem cell differentiation, endothelial to hematopoietic transition, mRNA methylation, mRNA methylation, mRNA destabilization, negative regulation of type I interferon-mediated signaling pathway, regulation of meiotic cell cycle, negative regulation of Notch signaling pathway, positive regulation of translation, regulation of T cell differentiation, innate immune response, gliogenesis, cellular response to UV, primary miRNA processing, forebrain radial glial cell differentiation, stem cell population maintenance, RNA metabolic process, dosage compensation by inactivation of X chromosome, circadian rhythm, spermatogenesis, cellular response to DNA damage stimulus, mRNA catabolic process, mRNA processing, adenosine to inosine editing, RNA methylation, RNA methylation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 278 369 324 323 466 434 392 327 329 ENSG00000165821 chr14 21521081 21537216 - SALL2 protein_coding This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]. 6297 GO:0005634, nucleus, GO:0046872, GO:0044877, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000977, metal ion binding, protein-containing complex binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0021915, GO:0006357, GO:0001654, GO:0000122, positive regulation of transcription by RNA polymerase II, neural tube development, regulation of transcription by RNA polymerase II, eye development, negative regulation of transcription by RNA polymerase II, 2 2 0 5 0 2 4 2 0 ENSG00000165828 chr10 133347146 133352683 + PRAP1 protein_coding 118471 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000165832 chr10 114938193 114977676 + TRUB1 protein_coding Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]. 142940 GO:0005829, GO:0005739, GO:0005634, cytosol, mitochondrion, nucleus, GO:0009982, GO:0009982, GO:0003723, pseudouridine synthase activity, pseudouridine synthase activity, RNA binding, GO:1990481, GO:1990481, GO:0006400, mRNA pseudouridine synthesis, mRNA pseudouridine synthesis, tRNA modification, 8 4 6 37 7 30 44 3 23 ENSG00000165837 chr13 45534522 45615739 - ERICH6B protein_coding 220081 23 18 22 14 31 11 21 13 39 ENSG00000165841 chr10 94762681 94853205 + CYP2C19 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]. 1557 GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0070330, GO:0052741, GO:0020037, GO:0020037, GO:0019899, GO:0019825, GO:0018676, GO:0018675, GO:0016712, GO:0016491, GO:0008395, GO:0008395, GO:0008392, GO:0005506, GO:0004497, aromatase activity, (R)-limonene 6-monooxygenase activity, heme binding, heme binding, enzyme binding, oxygen binding, (S)-limonene 7-monooxygenase activity, (S)-limonene 6-monooxygenase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, steroid hydroxylase activity, steroid hydroxylase activity, arachidonic acid epoxygenase activity, iron ion binding, monooxygenase activity, GO:0097267, GO:0055114, GO:0055114, GO:0046483, GO:0042738, GO:0042738, GO:0019373, GO:0019373, GO:0017144, GO:0016098, GO:0008202, GO:0006805, GO:0006805, GO:0006082, omega-hydroxylase P450 pathway, oxidation-reduction process, oxidation-reduction process, heterocycle metabolic process, exogenous drug catabolic process, exogenous drug catabolic process, epoxygenase P450 pathway, epoxygenase P450 pathway, drug metabolic process, monoterpenoid metabolic process, steroid metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000165861 chr14 72969451 73027212 - ZFYVE1 protein_coding The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 53349 GO:1990462, GO:0097629, GO:0048471, GO:0044233, GO:0016020, GO:0005811, GO:0005795, GO:0005794, GO:0005789, GO:0005783, GO:0005776, GO:0005739, GO:0000407, omegasome, extrinsic component of omegasome membrane, perinuclear region of cytoplasm, mitochondria-associated endoplasmic reticulum membrane, membrane, lipid droplet, Golgi stack, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, autophagosome, mitochondrion, phagophore assembly site, GO:0043325, GO:0032266, GO:0008270, GO:0005547, GO:0005545, GO:0005515, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, zinc ion binding, phosphatidylinositol-3,4,5-trisphosphate binding, 1-phosphatidylinositol binding, protein binding, GO:0140042, GO:0016236, GO:0010923, GO:0009267, lipid droplet formation, macroautophagy, negative regulation of phosphatase activity, cellular response to starvation, 389 504 419 299 498 318 311 386 309 ENSG00000165863 chr10 116663696 116670264 - C10orf82 protein_coding 143379 0 0 0 1 0 0 0 0 0 ENSG00000165868 chr10 116671192 116850236 - HSPA12A protein_coding 259217 GO:0070062, GO:0005737, GO:0005634, extracellular exosome, cytoplasm, nucleus, GO:0005524, GO:0005515, GO:0003674, ATP binding, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000165874 chr10 46610474 46652025 - SHLD2P1 transcribed_unprocessed_pseudogene 0 0 3 4 0 4 0 1 3 ENSG00000165879 chr10 97319267 97321915 + FRAT1 protein_coding The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008]. 10023 GO:0043231, GO:0005829, GO:0005829, GO:0005737, GO:0005737, intracellular membrane-bounded organelle, cytosol, cytosol, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:1904886, GO:0090263, GO:0090263, GO:0060070, beta-catenin destruction complex disassembly, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, canonical Wnt signaling pathway, 1511 1197 1517 179 504 311 283 502 311 ENSG00000165886 chr10 97498868 97571209 + UBTD1 protein_coding The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014]. 80019 GO:0005515, protein binding, 159 155 219 37 133 96 97 110 71 ENSG00000165887 chr10 97572499 97583884 + ANKRD2 protein_coding This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]. 26287 GO:0043231, GO:0031674, GO:0016605, GO:0005829, GO:0005634, GO:0005634, GO:0000791, intracellular membrane-bounded organelle, I band, PML body, cytosol, nucleus, nucleus, euchromatin, GO:0061629, GO:0061629, GO:0043422, GO:0031432, GO:0008307, GO:0005515, GO:0003682, RNA polymerase II-specific DNA-binding transcription factor binding, RNA polymerase II-specific DNA-binding transcription factor binding, protein kinase B binding, titin binding, structural constituent of muscle, protein binding, chromatin binding, GO:2000291, GO:1902253, GO:0045662, GO:0043619, GO:0035914, GO:0010832, GO:0007517, GO:0006936, GO:0006357, GO:0001817, GO:0000122, regulation of myoblast proliferation, regulation of intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of myoblast differentiation, regulation of transcription from RNA polymerase II promoter in response to oxidative stress, skeletal muscle cell differentiation, negative regulation of myotube differentiation, muscle organ development, muscle contraction, regulation of transcription by RNA polymerase II, regulation of cytokine production, negative regulation of transcription by RNA polymerase II, 2 6 4 3 23 11 2 7 4 ENSG00000165891 chr12 77021247 77065580 - E2F7 protein_coding E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]. 144455 GO:0090575, GO:0016607, GO:0005654, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, nuclear speck, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0042802, GO:0005515, GO:0003700, GO:0003700, GO:0001227, GO:0001217, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000134, GO:0071930, GO:0070365, GO:0060718, GO:0060707, GO:0045944, GO:0032877, GO:0032466, GO:0030330, GO:0008285, GO:0006977, GO:0006357, GO:0002040, GO:0001890, GO:0000122, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of transcription involved in G1/S transition of mitotic cell cycle, hepatocyte differentiation, chorionic trophoblast cell differentiation, trophoblast giant cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of DNA endoreduplication, negative regulation of cytokinesis, DNA damage response, signal transduction by p53 class mediator, negative regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription by RNA polymerase II, sprouting angiogenesis, placenta development, negative regulation of transcription by RNA polymerase II, 6 6 2 0 0 5 1 1 0 ENSG00000165895 chr11 100687653 100993941 + ARHGAP42 protein_coding This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]. 143872 GO:0005575, cellular_component, GO:0005096, GO:0005096, GTPase activator activity, GTPase activator activity, GO:1904694, GO:0090630, GO:0035024, GO:0007165, GO:0003085, negative regulation of vascular associated smooth muscle contraction, activation of GTPase activity, negative regulation of Rho protein signal transduction, signal transduction, negative regulation of systemic arterial blood pressure, 1 1 0 2 0 7 0 1 0 ENSG00000165898 chr14 74493720 74497106 + ISCA2 protein_coding The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 122961 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0051539, GO:0051537, GO:0005515, GO:0005506, GO:0005198, 4 iron, 4 sulfur cluster binding, 2 iron, 2 sulfur cluster binding, protein binding, iron ion binding, structural molecule activity, GO:0106035, GO:0044281, GO:0016226, protein maturation by [4Fe-4S] cluster transfer, small molecule metabolic process, iron-sulfur cluster assembly, 60 54 65 25 50 70 37 53 24 ENSG00000165899 chr12 80099537 80380879 + OTOGL protein_coding The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]. 283310 GO:0031012, GO:0005615, extracellular matrix, extracellular space, GO:0046556, GO:0005515, alpha-L-arabinofuranosidase activity, protein binding, GO:0046373, GO:0007605, L-arabinose metabolic process, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000165905 chr11 45921621 45929096 + LARGE2 protein_coding 120071 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0042285, GO:0042285, GO:0035252, GO:0030145, GO:0015020, GO:0015020, GO:0015020, GO:0005515, xylosyltransferase activity, xylosyltransferase activity, UDP-xylosyltransferase activity, manganese ion binding, glucuronosyltransferase activity, glucuronosyltransferase activity, glucuronosyltransferase activity, protein binding, GO:0046716, GO:0035269, GO:0035269, GO:0006493, muscle cell cellular homeostasis, protein O-linked mannosylation, protein O-linked mannosylation, protein O-linked glycosylation, 2 5 2 17 8 11 17 11 8 ENSG00000165912 chr11 47177525 47186443 - PACSIN3 protein_coding This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 29763 GO:0070062, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005768, GO:0005737, GO:0005737, extracellular exosome, plasma membrane, plasma membrane, cytoskeleton, cytosol, endosome, cytoplasm, cytoplasm, GO:0042802, GO:0019855, GO:0008289, GO:0008092, GO:0008092, GO:0005543, GO:0005515, identical protein binding, calcium channel inhibitor activity, lipid binding, cytoskeletal protein binding, cytoskeletal protein binding, phospholipid binding, protein binding, GO:0097320, GO:0097320, GO:0051926, GO:0051044, GO:0045806, GO:0030100, GO:0007010, GO:0006897, plasma membrane tubulation, plasma membrane tubulation, negative regulation of calcium ion transport, positive regulation of membrane protein ectodomain proteolysis, negative regulation of endocytosis, regulation of endocytosis, cytoskeleton organization, endocytosis, 0 0 0 0 0 0 1 1 0 ENSG00000165914 chr14 90524564 90816479 - TTC7B protein_coding 145567 GO:0005886, GO:0005886, GO:0005829, plasma membrane, plasma membrane, cytosol, GO:0005515, protein binding, GO:0072659, GO:0072659, GO:0046854, GO:0046854, protein localization to plasma membrane, protein localization to plasma membrane, phosphatidylinositol phosphorylation, phosphatidylinositol phosphorylation, 15 23 30 12 4 33 3 10 2 ENSG00000165915 chr11 47407132 47416501 + SLC39A13 protein_coding This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]. 91252 GO:0048471, GO:0030173, GO:0016021, GO:0005794, GO:0005794, GO:0005783, perinuclear region of cytoplasm, integral component of Golgi membrane, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, GO:0042803, GO:0005515, GO:0005385, GO:0005385, GO:0005385, protein homodimerization activity, protein binding, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0071577, GO:0071577, GO:0071577, GO:0061448, GO:0010043, GO:0006882, GO:0006882, GO:0006882, zinc ion transmembrane transport, zinc ion transmembrane transport, zinc ion transmembrane transport, connective tissue development, response to zinc ion, cellular zinc ion homeostasis, cellular zinc ion homeostasis, cellular zinc ion homeostasis, 193 146 210 92 93 144 115 103 147 ENSG00000165916 chr11 47418769 47426473 - PSMC3 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]. 5702 GO:1904813, GO:0034774, GO:0022624, GO:0016020, GO:0008540, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000932, GO:0000502, ficolin-1-rich granule lumen, secretory granule lumen, proteasome accessory complex, membrane, proteasome regulatory particle, base subcomplex, cytosol, nucleoplasm, nucleus, nucleus, extracellular region, P-body, proteasome complex, GO:0042802, GO:0016887, GO:0005524, GO:0005515, identical protein binding, ATPase activity, ATP binding, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0045944, GO:0045899, GO:0043921, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0006521, GO:0002479, GO:0002223, GO:0001824, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of RNA polymerase II transcription preinitiation complex assembly, modulation by host of viral transcription, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, blastocyst development, protein polyubiquitination, MAPK cascade, 91 132 110 73 82 127 110 95 119 ENSG00000165917 chr11 47437757 47449178 - RAPSN protein_coding This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]. 5913 GO:0099634, GO:0031594, GO:0005886, GO:0005829, GO:0005813, GO:0005794, postsynaptic specialization membrane, neuromuscular junction, plasma membrane, cytosol, centrosome, Golgi apparatus, GO:0046872, GO:0043495, GO:0033130, metal ion binding, protein-membrane adaptor activity, acetylcholine receptor binding, GO:0043525, GO:0007271, GO:0007268, positive regulation of neuron apoptotic process, synaptic transmission, cholinergic, chemical synaptic transmission, 4 5 5 4 19 5 8 6 2 ENSG00000165923 chr11 47659591 47715389 - AGBL2 protein_coding 79841 GO:0036064, GO:0005829, GO:0005814, ciliary basal body, cytosol, centriole, GO:0008270, GO:0004181, zinc ion binding, metallocarboxypeptidase activity, GO:0035610, GO:0035610, GO:0006508, protein side chain deglutamylation, protein side chain deglutamylation, proteolysis, 0 2 7 2 4 7 11 1 2 ENSG00000165929 chr14 91779751 91867536 - TC2N protein_coding 123036 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0003674, molecular_function, 17 13 30 91 11 68 51 12 61 ENSG00000165934 chr14 92121937 92172145 + CPSF2 protein_coding 53981 GO:0016020, GO:0005847, GO:0005847, GO:0005654, membrane, mRNA cleavage and polyadenylation specificity factor complex, mRNA cleavage and polyadenylation specificity factor complex, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0098789, GO:0031124, GO:0006406, GO:0006398, GO:0006398, GO:0006378, GO:0006369, GO:0000398, pre-mRNA cleavage required for polyadenylation, mRNA 3'-end processing, mRNA export from nucleus, mRNA 3'-end processing by stem-loop binding and cleavage, mRNA 3'-end processing by stem-loop binding and cleavage, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 286 290 347 121 190 169 141 181 111 ENSG00000165935 chr12 27466810 27502185 + SMCO2 protein_coding 341346 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000165943 chr14 93182196 93184928 - MOAP1 protein_coding The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008]. 64112 GO:0005829, GO:0005741, GO:0005739, GO:0005737, cytosol, mitochondrial outer membrane, mitochondrion, cytoplasm, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0097192, GO:0097190, GO:0090200, GO:0043065, GO:0042981, GO:0008630, GO:0008625, GO:0001844, extrinsic apoptotic signaling pathway in absence of ligand, apoptotic signaling pathway, positive regulation of release of cytochrome c from mitochondria, positive regulation of apoptotic process, regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage, extrinsic apoptotic signaling pathway via death domain receptors, protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, 6 4 2 11 10 14 12 8 2 ENSG00000165948 chr14 94081282 94103846 + IFI27L1 protein_coding 122509 GO:0016021, GO:0005739, integral component of membrane, mitochondrion, GO:0005515, protein binding, GO:0097190, GO:0006915, apoptotic signaling pathway, apoptotic process, 0 0 0 4 1 0 1 0 0 ENSG00000165949 chr14 94104836 94116698 + IFI27 protein_coding 3429 GO:0031966, GO:0016021, GO:0005789, GO:0005741, GO:0005739, GO:0005637, GO:0005635, mitochondrial membrane, integral component of membrane, endoplasmic reticulum membrane, mitochondrial outer membrane, mitochondrion, nuclear inner membrane, nuclear envelope, GO:0042802, GO:0005521, GO:0005515, GO:0003674, GO:0001102, identical protein binding, lamin binding, protein binding, molecular_function, RNA polymerase II activating transcription factor binding, GO:0097191, GO:0097190, GO:0070936, GO:0060337, GO:0060337, GO:0051607, GO:0046825, GO:0045087, GO:0044827, GO:0043161, GO:0016032, GO:0006915, GO:0000122, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, protein K48-linked ubiquitination, type I interferon signaling pathway, type I interferon signaling pathway, defense response to virus, regulation of protein export from nucleus, innate immune response, modulation by host of viral genome replication, proteasome-mediated ubiquitin-dependent protein catabolic process, viral process, apoptotic process, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000165953 chr14 94487274 94517844 - SERPINA12 protein_coding 145264 GO:0005886, GO:0005615, plasma membrane, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0090207, GO:0090181, GO:0051055, GO:0046628, GO:0045721, GO:0014068, GO:0010951, regulation of triglyceride metabolic process, regulation of cholesterol metabolic process, negative regulation of lipid biosynthetic process, positive regulation of insulin receptor signaling pathway, negative regulation of gluconeogenesis, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of endopeptidase activity, 1 0 0 2 3 0 0 1 0 ENSG00000165959 chr14 95181940 95319906 - CLMN protein_coding 79789 GO:0034993, GO:0016021, GO:0005737, GO:0005640, meiotic nuclear membrane microtubule tethering complex, integral component of membrane, cytoplasm, nuclear outer membrane, GO:0051015, actin filament binding, GO:0031175, GO:0008285, GO:0007097, neuron projection development, negative regulation of cell population proliferation, nuclear migration, 346 432 435 151 314 221 176 219 203 ENSG00000165966 chr12 41188448 41574724 + PDZRN4 protein_coding 29951 GO:0046872, metal ion binding, 1 0 0 0 0 0 0 0 0 ENSG00000165970 chr11 20599400 20659285 + SLC6A5 protein_coding This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 9152 GO:0045202, GO:0031045, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005768, synapse, dense core granule, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, endosome, GO:0046872, GO:0015375, GO:0015375, metal ion binding, glycine:sodium symporter activity, glycine:sodium symporter activity, GO:1903804, GO:1903804, GO:0060012, GO:0060012, GO:0035725, GO:0007268, GO:0001504, glycine import across plasma membrane, glycine import across plasma membrane, synaptic transmission, glycinergic, synaptic transmission, glycinergic, sodium ion transmembrane transport, chemical synaptic transmission, neurotransmitter uptake, 0 0 0 0 0 0 0 0 0 ENSG00000165972 chr12 95867048 95942974 - CCDC38 protein_coding 120935 GO:0005813, GO:0005737, centrosome, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000165973 chr11 20669551 21575681 + NELL1 protein_coding This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 4745 GO:0048471, GO:0005737, GO:0005737, GO:0005635, GO:0005576, perinuclear region of cytoplasm, cytoplasm, cytoplasm, nuclear envelope, extracellular region, GO:0008201, GO:0005515, GO:0005509, GO:0005080, heparin binding, protein binding, calcium ion binding, protein kinase C binding, GO:1903363, GO:0045669, GO:0033689, GO:0030501, GO:0030154, GO:0010468, GO:0007399, negative regulation of cellular protein catabolic process, positive regulation of osteoblast differentiation, negative regulation of osteoblast proliferation, positive regulation of bone mineralization, cell differentiation, regulation of gene expression, nervous system development, 0 0 0 0 0 0 0 0 0 ENSG00000165983 chr10 16436943 16513745 + PTER protein_coding 9317 GO:0070062, extracellular exosome, GO:0016788, GO:0008270, GO:0005515, GO:0003674, hydrolase activity, acting on ester bonds, zinc ion binding, protein binding, molecular_function, GO:0030855, GO:0009056, epithelial cell differentiation, catabolic process, 17 17 23 24 36 36 36 22 37 ENSG00000165985 chr10 16513743 16522005 - C1QL3 protein_coding 389941 GO:0005581, GO:0005576, collagen trimer, extracellular region, GO:0042802, identical protein binding, GO:0050807, regulation of synapse organization, 1 1 2 2 2 6 1 0 9 ENSG00000165995 chr10 18140677 18543557 + CACNB2 protein_coding This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]. 783 GO:1990454, GO:0098793, GO:0098684, GO:0005891, GO:0005891, GO:0005887, GO:0005886, L-type voltage-gated calcium channel complex, presynapse, photoreceptor ribbon synapse, voltage-gated calcium channel complex, voltage-gated calcium channel complex, integral component of plasma membrane, plasma membrane, GO:0099635, GO:0086056, GO:0086007, GO:0051015, GO:0008331, GO:0005515, GO:0005262, GO:0005245, voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels, voltage-gated calcium channel activity involved in AV node cell action potential, voltage-gated calcium channel activity involved in cardiac muscle cell action potential, actin filament binding, high voltage-gated calcium channel activity, protein binding, calcium channel activity, voltage-gated calcium channel activity, GO:1904879, GO:1901843, GO:1901385, GO:0099703, GO:0098912, GO:0086091, GO:0086045, GO:0072659, GO:0070588, GO:0070509, GO:0061337, GO:0051928, GO:0007601, GO:0007528, GO:0007268, positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, positive regulation of high voltage-gated calcium channel activity, regulation of voltage-gated calcium channel activity, induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration, membrane depolarization during atrial cardiac muscle cell action potential, regulation of heart rate by cardiac conduction, membrane depolarization during AV node cell action potential, protein localization to plasma membrane, calcium ion transmembrane transport, calcium ion import, cardiac conduction, positive regulation of calcium ion transport, visual perception, neuromuscular junction development, chemical synaptic transmission, 7 3 5 21 3 8 12 9 14 ENSG00000165996 chr10 17589032 17617377 - HACD1 protein_coding The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]. 9200 GO:0030176, GO:0005789, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0102345, GO:0102344, GO:0102343, GO:0102158, GO:0018812, GO:0005515, 3-hydroxy-lignoceroyl-CoA dehydratase activity, 3-hydroxy-behenoyl-CoA dehydratase activity, 3-hydroxy-arachidoyl-CoA dehydratase activity, very-long-chain 3-hydroxyacyl-CoA dehydratase activity, 3-hydroxyacyl-CoA dehydratase activity, protein binding, GO:0042761, GO:0035338, GO:0030497, GO:0030148, GO:0007275, very long-chain fatty acid biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, sphingolipid biosynthetic process, multicellular organism development, 1 0 0 2 1 0 0 6 0 ENSG00000165997 chr10 18659405 18681639 + ARL5B protein_coding ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]. 221079 GO:0005802, GO:0005737, trans-Golgi network, cytoplasm, GO:0005525, GO:0005515, GTP binding, protein binding, GO:1903292, GO:1903292, GO:0016192, GO:0006886, protein localization to Golgi membrane, protein localization to Golgi membrane, vesicle-mediated transport, intracellular protein transport, 2049 3525 3216 6941 9466 16646 11154 9164 16500 ENSG00000166002 chr11 93478472 93543508 - SMCO4 protein_coding 56935 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 30 59 41 33 64 39 20 57 30 ENSG00000166004 chr11 93661639 93730358 + CEP295 protein_coding 85459 GO:1990498, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005737, mitotic spindle microtubule, plasma membrane, cytoskeleton, cytosol, cytosol, centriole, centriole, centrosome, centrosome, cytoplasm, GO:0008017, GO:0008017, microtubule binding, microtubule binding, GO:1904951, GO:1903724, GO:1901985, GO:0046599, GO:0010825, GO:0007099, positive regulation of establishment of protein localization, positive regulation of centriole elongation, positive regulation of protein acetylation, regulation of centriole replication, positive regulation of centrosome duplication, centriole replication, 322 425 308 331 557 398 262 381 268 ENSG00000166006 chr12 75040077 75209868 - KCNC2 protein_coding The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 3747 GO:0045211, GO:0045202, GO:0043204, GO:0043195, GO:0042734, GO:0032809, GO:0032809, GO:0032590, GO:0031982, GO:0030673, GO:0030425, GO:0030424, GO:0030424, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0008076, GO:0008076, GO:0005887, GO:0005886, GO:0005886, postsynaptic membrane, synapse, perikaryon, terminal bouton, presynaptic membrane, neuronal cell body membrane, neuronal cell body membrane, dendrite membrane, vesicle, axolemma, dendrite, axon, axon, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0099508, GO:0044325, GO:0005251, GO:0005251, GO:0005249, GO:0005249, voltage-gated ion channel activity involved in regulation of presynaptic membrane potential, ion channel binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:1990089, GO:1903818, GO:0099505, GO:0097237, GO:0071805, GO:0071805, GO:0071732, GO:0071242, GO:0051291, GO:0051260, GO:0050796, GO:0045471, GO:0038060, GO:0032026, GO:0021759, GO:0014075, GO:0014070, GO:0009642, response to nerve growth factor, positive regulation of voltage-gated potassium channel activity, regulation of presynaptic membrane potential, cellular response to toxic substance, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to nitric oxide, cellular response to ammonium ion, protein heterooligomerization, protein homooligomerization, regulation of insulin secretion, response to ethanol, nitric oxide-cGMP-mediated signaling pathway, response to magnesium ion, globus pallidus development, response to amine, response to organic cyclic compound, response to light intensity, 0 0 0 0 0 0 0 0 0 ENSG00000166007 chr11 55291883 55298270 - TRIM51HP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000166012 chr11 93729948 93784391 - TAF1D protein_coding TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]. 79101 GO:0072686, GO:0034451, GO:0005829, GO:0005730, GO:0005668, GO:0005654, GO:0005654, GO:0005654, mitotic spindle, centriolar satellite, cytosol, nucleolus, RNA polymerase transcription factor SL1 complex, nucleoplasm, nucleoplasm, nucleoplasm, GO:0042802, GO:0005515, GO:0003677, identical protein binding, protein binding, DNA binding, GO:0045815, GO:0006363, GO:0006362, GO:0006361, GO:0006355, positive regulation of gene expression, epigenetic, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, regulation of transcription, DNA-templated, 682 702 933 599 529 707 565 436 475 ENSG00000166013 chr11 89841997 89850970 + TRIM53BP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000166016 chr11 34150988 34358008 - ABTB2 protein_coding 25841 GO:0005654, nucleoplasm, GO:0046982, GO:0003674, protein heterodimerization activity, molecular_function, GO:0097237, cellular response to toxic substance, 55 75 99 36 28 12 20 13 11 ENSG00000166024 chr10 98134624 98244897 + R3HCC1L protein_coding 27291 GO:0035145, GO:0035145, exon-exon junction complex, exon-exon junction complex, GO:0005515, protein binding, 305 339 376 233 267 297 238 246 218 ENSG00000166025 chr11 94706431 94876753 + AMOTL1 protein_coding The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 154810 GO:0031410, GO:0030027, GO:0016324, GO:0008180, GO:0005923, GO:0005923, GO:0005886, GO:0005829, cytoplasmic vesicle, lamellipodium, apical plasma membrane, COP9 signalosome, bicellular tight junction, bicellular tight junction, plasma membrane, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0043536, GO:0035329, GO:0035329, GO:0030334, GO:0030036, GO:0016055, GO:0003365, GO:0001525, positive regulation of blood vessel endothelial cell migration, hippo signaling, hippo signaling, regulation of cell migration, actin cytoskeleton organization, Wnt signaling pathway, establishment of cell polarity involved in ameboidal cell migration, angiogenesis, 3 0 0 8 7 0 0 3 0 ENSG00000166033 chr10 122458551 122514908 + HTRA1 protein_coding This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]. 5654 GO:0070062, GO:0062023, GO:0062023, GO:0005886, GO:0005829, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, plasma membrane, cytosol, extracellular space, extracellular region, GO:0042802, GO:0008236, GO:0005520, GO:0005515, GO:0004252, identical protein binding, serine-type peptidase activity, insulin-like growth factor binding, protein binding, serine-type endopeptidase activity, GO:0097187, GO:0060718, GO:0050687, GO:0050679, GO:0030514, GO:0030512, GO:0022617, GO:0006508, GO:0001890, dentinogenesis, chorionic trophoblast cell differentiation, negative regulation of defense response to virus, positive regulation of epithelial cell proliferation, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, extracellular matrix disassembly, proteolysis, placenta development, 0 0 0 0 1 0 0 0 0 ENSG00000166035 chr15 58410569 58569843 + LIPC protein_coding LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]. 3990 GO:0034364, GO:0005788, GO:0005615, GO:0005615, GO:0005576, high-density lipoprotein particle, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, GO:0102545, GO:0052740, GO:0052739, GO:0034185, GO:0034185, GO:0030169, GO:0016298, GO:0008970, GO:0008201, GO:0004806, GO:0004622, GO:0004620, GO:0004620, GO:0004465, phosphatidyl phospholipase B activity, 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, apolipoprotein binding, apolipoprotein binding, low-density lipoprotein particle binding, lipase activity, phospholipase A1 activity, heparin binding, triglyceride lipase activity, lysophospholipase activity, phospholipase activity, phospholipase activity, lipoprotein lipase activity, GO:0070328, GO:0051004, GO:0043691, GO:0042632, GO:0034638, GO:0034382, GO:0034375, GO:0034374, GO:0034373, GO:0034372, GO:0019433, GO:0019433, GO:0016042, GO:0008203, GO:0006633, GO:0006633, triglyceride homeostasis, regulation of lipoprotein lipase activity, reverse cholesterol transport, cholesterol homeostasis, phosphatidylcholine catabolic process, chylomicron remnant clearance, high-density lipoprotein particle remodeling, low-density lipoprotein particle remodeling, intermediate-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, triglyceride catabolic process, triglyceride catabolic process, lipid catabolic process, cholesterol metabolic process, fatty acid biosynthetic process, fatty acid biosynthetic process, 3 1 0 11 0 0 1 0 0 ENSG00000166037 chr11 95789965 95832693 + CEP57 protein_coding This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 9702 GO:0005874, GO:0005829, GO:0005813, GO:0005813, GO:0005794, GO:0005634, microtubule, cytosol, centrosome, centrosome, Golgi apparatus, nucleus, GO:0043015, GO:0042803, GO:0017134, GO:0008017, GO:0005515, gamma-tubulin binding, protein homodimerization activity, fibroblast growth factor binding, microtubule binding, protein binding, GO:0097711, GO:0051260, GO:0034453, GO:0010389, GO:0008543, GO:0007286, GO:0000086, ciliary basal body-plasma membrane docking, protein homooligomerization, microtubule anchoring, regulation of G2/M transition of mitotic cell cycle, fibroblast growth factor receptor signaling pathway, spermatid development, G2/M transition of mitotic cell cycle, 499 441 625 364 279 485 337 213 271 ENSG00000166046 chr12 106301929 106347015 + TCP11L2 protein_coding 255394 GO:0005515, protein binding, GO:0007165, signal transduction, 1218 1635 1338 879 1945 1183 1212 1348 943 ENSG00000166049 chrX 151563622 151676739 + PASD1 protein_coding This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [provided by RefSeq, May 2010]. 139135 GO:1990513, GO:1990512, GO:0016607, GO:0005634, CLOCK-BMAL transcription complex, Cry-Per complex, nuclear speck, nucleus, GO:0140416, GO:0140297, GO:0000981, GO:0000978, transcription regulator inhibitor activity, DNA-binding transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0045892, GO:0042754, GO:0042754, GO:0032922, GO:0006357, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of circadian rhythm, negative regulation of circadian rhythm, circadian regulation of gene expression, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000166068 chr15 38252326 38357249 + SPRED1 protein_coding The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]. 161742 GO:0031410, GO:0005901, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005654, cytoplasmic vesicle, caveola, plasma membrane, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0030291, GO:0019902, GO:0019901, GO:0019901, GO:0005515, GO:0005173, protein serine/threonine kinase inhibitor activity, phosphatase binding, protein kinase binding, protein kinase binding, protein binding, stem cell factor receptor binding, GO:1902747, GO:0090311, GO:0090311, GO:0090051, GO:0070373, GO:0060979, GO:0043517, GO:0043517, GO:0043409, GO:0043408, GO:0030512, GO:0016525, GO:0016525, GO:0010923, GO:0010801, GO:0010801, GO:0010719, GO:0008543, GO:0006469, GO:0000188, GO:0000188, GO:0000165, negative regulation of lens fiber cell differentiation, regulation of protein deacetylation, regulation of protein deacetylation, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of ERK1 and ERK2 cascade, vasculogenesis involved in coronary vascular morphogenesis, positive regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of MAPK cascade, regulation of MAPK cascade, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of angiogenesis, negative regulation of angiogenesis, negative regulation of phosphatase activity, negative regulation of peptidyl-threonine phosphorylation, negative regulation of peptidyl-threonine phosphorylation, negative regulation of epithelial to mesenchymal transition, fibroblast growth factor receptor signaling pathway, negative regulation of protein kinase activity, inactivation of MAPK activity, inactivation of MAPK activity, MAPK cascade, 10 9 12 9 24 4 5 11 14 ENSG00000166069 chr15 37921939 37967724 + TMCO5A protein_coding 145942 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000166073 chr15 39799032 39920892 - GPR176 protein_coding Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008]. 11245 GO:0045202, GO:0005887, GO:0005886, GO:0005886, GO:0005886, synapse, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0004930, GO:0004930, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0048512, GO:0007268, GO:0007193, GO:0007186, GO:0007186, GO:0007186, circadian behavior, chemical synaptic transmission, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 0 4 0 3 0 0 5 0 ENSG00000166086 chr11 134068925 134152001 + JAM3 protein_coding Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]. 83700 GO:0098636, GO:0070160, GO:0044291, GO:0043220, GO:0033010, GO:0031941, GO:0030057, GO:0005923, GO:0005911, GO:0005902, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005615, protein complex involved in cell adhesion, tight junction, cell-cell contact zone, Schmidt-Lanterman incisure, paranodal junction, filamentous actin, desmosome, bicellular tight junction, cell-cell junction, microvillus, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, extracellular space, GO:0098632, GO:0046982, GO:0042803, GO:0005515, GO:0005178, cell-cell adhesion mediator activity, protein heterodimerization activity, protein homodimerization activity, protein binding, integrin binding, GO:1905710, GO:1902414, GO:0098609, GO:0098609, GO:0097530, GO:0097241, GO:0090138, GO:0090022, GO:0050900, GO:0045176, GO:0042552, GO:0035633, GO:0034394, GO:0034333, GO:0034113, GO:0033629, GO:0033624, GO:0031103, GO:0030198, GO:0030010, GO:0019226, GO:0007286, GO:0007160, GO:0002693, GO:0002523, GO:0002318, GO:0002250, GO:0001780, GO:0001525, positive regulation of membrane permeability, protein localization to cell junction, cell-cell adhesion, cell-cell adhesion, granulocyte migration, hematopoietic stem cell migration to bone marrow, regulation of actin cytoskeleton organization by cell-cell adhesion, regulation of neutrophil chemotaxis, leukocyte migration, apical protein localization, myelination, maintenance of blood-brain barrier, protein localization to cell surface, adherens junction assembly, heterotypic cell-cell adhesion, negative regulation of cell adhesion mediated by integrin, negative regulation of integrin activation, axon regeneration, extracellular matrix organization, establishment of cell polarity, transmission of nerve impulse, spermatid development, cell-matrix adhesion, positive regulation of cellular extravasation, leukocyte migration involved in inflammatory response, myeloid progenitor cell differentiation, adaptive immune response, neutrophil homeostasis, angiogenesis, 5 6 14 27 2 19 15 6 4 ENSG00000166090 chr14 23372809 23376403 + IL25 protein_coding The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 64806 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0030380, GO:0005125, interleukin-17E receptor binding, cytokine activity, GO:0097400, GO:0045944, GO:0032634, GO:0032616, GO:0030222, GO:0009624, GO:0009620, GO:0008150, GO:0002437, interleukin-17-mediated signaling pathway, positive regulation of transcription by RNA polymerase II, interleukin-5 production, interleukin-13 production, eosinophil differentiation, response to nematode, response to fungus, biological_process, inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000166091 chr14 23376773 23379772 + CMTM5 protein_coding This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 116173 GO:0016021, GO:0005615, integral component of membrane, extracellular space, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0045662, GO:0007165, GO:0006935, negative regulation of myoblast differentiation, signal transduction, chemotaxis, 0 0 1 0 0 0 2 1 0 ENSG00000166104 chr15 62227896 62253235 - AC126323.1 transcribed_unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000166105 chr11 134274245 134319564 + GLB1L3 protein_coding 112937 GO:0005773, vacuole, GO:0004565, beta-galactosidase activity, GO:0005975, carbohydrate metabolic process, 1 3 13 5 10 14 4 1 13 ENSG00000166106 chr11 130448974 130476641 + ADAMTS15 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016]. 170689 GO:0062023, GO:0031012, GO:0009986, GO:0005615, collagen-containing extracellular matrix, extracellular matrix, cell surface, extracellular space, GO:0050840, GO:0008270, GO:0008201, GO:0004222, extracellular matrix binding, zinc ion binding, heparin binding, metalloendopeptidase activity, GO:0030198, GO:0006508, extracellular matrix organization, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000166111 chr12 108907741 109021240 - SVOP protein_coding 55530 GO:0030672, GO:0016021, GO:0008021, synaptic vesicle membrane, integral component of membrane, synaptic vesicle, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000166118 chr11 133840631 133845538 - SPATA19 protein_coding 219938 GO:0005741, mitochondrial outer membrane, GO:0030154, GO:0007283, GO:0007275, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000166123 chr16 46884378 46931297 + GPT2 protein_coding This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 84706 GO:0005759, mitochondrial matrix, GO:0030170, GO:0004021, pyridoxal phosphate binding, L-alanine:2-oxoglutarate aminotransferase activity, GO:0042853, GO:0042851, GO:0008652, GO:0006103, L-alanine catabolic process, L-alanine metabolic process, cellular amino acid biosynthetic process, 2-oxoglutarate metabolic process, 1 4 1 3 2 0 3 1 0 ENSG00000166126 chr14 102922656 102933596 + AMN protein_coding The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]. 81693 GO:0070062, GO:0032991, GO:0031526, GO:0030139, GO:0030139, GO:0016324, GO:0016324, GO:0016021, GO:0010008, GO:0005905, GO:0005886, GO:0005615, extracellular exosome, protein-containing complex, brush border membrane, endocytic vesicle, endocytic vesicle, apical plasma membrane, apical plasma membrane, integral component of membrane, endosome membrane, clathrin-coated pit, plasma membrane, extracellular space, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0043001, GO:0034384, GO:0015889, GO:0009235, GO:0008104, GO:0007588, GO:0007275, GO:0006898, GO:0006898, GO:0006898, Golgi to plasma membrane protein transport, high-density lipoprotein particle clearance, cobalamin transport, cobalamin metabolic process, protein localization, excretion, multicellular organism development, receptor-mediated endocytosis, receptor-mediated endocytosis, receptor-mediated endocytosis, 11 5 10 11 10 15 19 2 2 ENSG00000166128 chr15 63189469 63267782 + RAB8B protein_coding RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]. 51762 GO:0070062, GO:0055038, GO:0051286, GO:0048471, GO:0045335, GO:0043231, GO:0030670, GO:0030140, GO:0016604, GO:0008021, GO:0005886, GO:0005778, GO:0005768, GO:0005654, extracellular exosome, recycling endosome membrane, cell tip, perinuclear region of cytoplasm, phagocytic vesicle, intracellular membrane-bounded organelle, phagocytic vesicle membrane, trans-Golgi network transport vesicle, nuclear body, synaptic vesicle, plasma membrane, peroxisomal membrane, endosome, nucleoplasm, GO:0030911, GO:0019003, GO:0005525, GO:0005515, GO:0005102, GO:0003924, TPR domain binding, GDP binding, GTP binding, protein binding, signaling receptor binding, GTPase activity, GO:0150115, GO:0072659, GO:0060271, GO:0051461, GO:0048210, GO:0045046, GO:0032869, GO:0031346, GO:0019882, GO:0017157, GO:0009306, GO:0006904, cell-substrate junction organization, protein localization to plasma membrane, cilium assembly, positive regulation of corticotropin secretion, Golgi vesicle fusion to target membrane, protein import into peroxisome membrane, cellular response to insulin stimulus, positive regulation of cell projection organization, antigen processing and presentation, regulation of exocytosis, protein secretion, vesicle docking involved in exocytosis, 5623 4316 8984 1851 2507 3439 2451 1932 2540 ENSG00000166130 chr12 98613405 98645113 - IKBIP protein_coding 121457 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0010165, response to X-ray, 806 607 1026 254 546 419 391 610 447 ENSG00000166133 chr15 40569300 40574943 + RPUSD2 protein_coding 27079 GO:0005575, cellular_component, GO:0009982, GO:0003723, pseudouridine synthase activity, RNA binding, GO:0008150, GO:0000455, biological_process, enzyme-directed rRNA pseudouridine synthesis, 3 0 12 8 1 13 11 9 6 ENSG00000166135 chr10 100529072 100559998 + HIF1AN protein_coding 55662 GO:0048471, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, perinuclear region of cytoplasm, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0102113, GO:0071532, GO:0071532, GO:0051059, GO:0042803, GO:0036140, GO:0036140, GO:0036140, GO:0036139, GO:0036139, GO:0031406, GO:0019826, GO:0016706, GO:0008270, GO:0008198, GO:0005515, GO:0005112, hypoxia-inducible factor-asparagine oxygenase activity, ankyrin repeat binding, ankyrin repeat binding, NF-kappaB binding, protein homodimerization activity, peptidyl-asparagine 3-dioxygenase activity, peptidyl-asparagine 3-dioxygenase activity, peptidyl-asparagine 3-dioxygenase activity, peptidyl-histidine dioxygenase activity, peptidyl-histidine dioxygenase activity, carboxylic acid binding, oxygen sensor activity, 2-oxoglutarate-dependent dioxygenase activity, zinc ion binding, ferrous iron binding, protein binding, Notch binding, GO:2001214, GO:0061428, GO:0061428, GO:0061418, GO:0055114, GO:0045746, GO:0045746, GO:0045663, GO:0042265, GO:0042265, GO:0042265, GO:0042264, GO:0042264, GO:0036138, GO:0036138, positive regulation of vasculogenesis, negative regulation of transcription from RNA polymerase II promoter in response to hypoxia, negative regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of transcription from RNA polymerase II promoter in response to hypoxia, oxidation-reduction process, negative regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, positive regulation of myoblast differentiation, peptidyl-asparagine hydroxylation, peptidyl-asparagine hydroxylation, peptidyl-asparagine hydroxylation, peptidyl-aspartic acid hydroxylation, peptidyl-aspartic acid hydroxylation, peptidyl-histidine hydroxylation, peptidyl-histidine hydroxylation, 789 823 999 499 703 729 544 651 532 ENSG00000166136 chr10 100523740 100530000 - NDUFB8 protein_coding 4714 GO:0016021, GO:0005783, GO:0005759, GO:0005747, GO:0005747, GO:0005747, GO:0005747, GO:0005743, integral component of membrane, endoplasmic reticulum, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 9 13 12 10 10 20 3 5 9 ENSG00000166140 chr15 40807086 40815084 + ZFYVE19 protein_coding 84936 GO:0090543, GO:0032154, GO:0032154, GO:0030496, GO:0030496, GO:0005813, GO:0005813, GO:0005737, Flemming body, cleavage furrow, cleavage furrow, midbody, midbody, centrosome, centrosome, cytoplasm, GO:0046872, GO:0032266, GO:0032266, GO:0005515, metal ion binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, protein binding, GO:0051301, GO:0044878, GO:0044878, GO:0032466, GO:0009838, GO:0009838, cell division, mitotic cytokinesis checkpoint, mitotic cytokinesis checkpoint, negative regulation of cytokinesis, abscission, abscission, 52 45 58 86 95 82 98 92 82 ENSG00000166143 chr15 40815445 40828709 - PPP1R14D protein_coding Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]. 54866 GO:0005737, cytoplasm, GO:0004865, GO:0004865, protein serine/threonine phosphatase inhibitor activity, protein serine/threonine phosphatase inhibitor activity, GO:1905184, GO:1905183, GO:0042325, positive regulation of protein serine/threonine phosphatase activity, negative regulation of protein serine/threonine phosphatase activity, regulation of phosphorylation, 0 0 0 0 1 0 0 1 0 ENSG00000166145 chr15 40844018 40858207 + SPINT1 protein_coding The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 6692 GO:0070062, GO:0016020, GO:0005886, GO:0005615, GO:0005576, extracellular exosome, membrane, plasma membrane, extracellular space, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:2000178, GO:0071773, GO:0060674, GO:0060670, GO:0045687, GO:0030198, GO:0010951, GO:0001843, negative regulation of neural precursor cell proliferation, cellular response to BMP stimulus, placenta blood vessel development, branching involved in labyrinthine layer morphogenesis, positive regulation of glial cell differentiation, extracellular matrix organization, negative regulation of endopeptidase activity, neural tube closure, 70 175 164 37 112 57 43 113 63 ENSG00000166147 chr15 48408306 48645849 - FBN1 protein_coding This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]. 2200 GO:0062023, GO:0062023, GO:0031012, GO:0031012, GO:0005788, GO:0005615, GO:0005615, GO:0005604, GO:0005576, GO:0005576, GO:0005576, GO:0001527, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, basement membrane, extracellular region, extracellular region, extracellular region, microfibril, GO:0044877, GO:0042802, GO:0030023, GO:0008201, GO:0005515, GO:0005509, GO:0005201, GO:0005201, GO:0005201, GO:0005179, GO:0005178, protein-containing complex binding, identical protein binding, extracellular matrix constituent conferring elasticity, heparin binding, protein binding, calcium ion binding, extracellular matrix structural constituent, extracellular matrix structural constituent, extracellular matrix structural constituent, hormone activity, integrin binding, GO:2001205, GO:1990314, GO:0071560, GO:0048050, GO:0048048, GO:0045671, GO:0044267, GO:0043687, GO:0043010, GO:0035583, GO:0035582, GO:0033627, GO:0030198, GO:0009653, GO:0007507, GO:0007165, GO:0001656, GO:0001501, negative regulation of osteoclast development, cellular response to insulin-like growth factor stimulus, cellular response to transforming growth factor beta stimulus, post-embryonic eye morphogenesis, embryonic eye morphogenesis, negative regulation of osteoclast differentiation, cellular protein metabolic process, post-translational protein modification, camera-type eye development, sequestering of TGFbeta in extracellular matrix, sequestering of BMP in extracellular matrix, cell adhesion mediated by integrin, extracellular matrix organization, anatomical structure morphogenesis, heart development, signal transduction, metanephros development, skeletal system development, 13 29 4 3 1 0 5 2 2 ENSG00000166148 chr12 63142759 63150942 - AVPR1A protein_coding The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]. 552 GO:0030139, GO:0005887, GO:0005886, GO:0005886, GO:0005768, endocytic vesicle, integral component of plasma membrane, plasma membrane, plasma membrane, endosome, GO:0042277, GO:0031894, GO:0017046, GO:0005515, GO:0005080, GO:0005000, GO:0005000, GO:0004930, peptide binding, V1A vasopressin receptor binding, peptide hormone binding, protein binding, protein kinase C binding, vasopressin receptor activity, vasopressin receptor activity, G protein-coupled receptor activity, GO:0150104, GO:0051970, GO:0051412, GO:0045907, GO:0043084, GO:0042713, GO:0042711, GO:0042631, GO:0035815, GO:0035176, GO:0032849, GO:0031394, GO:0030307, GO:0021537, GO:0019722, GO:0014902, GO:0014049, GO:0010460, GO:0008284, GO:0008015, GO:0007625, GO:0007621, GO:0007204, GO:0007202, GO:0007186, GO:0007186, GO:0006091, GO:0003084, GO:0002125, GO:0001992, transport across blood-brain barrier, negative regulation of transmission of nerve impulse, response to corticosterone, positive regulation of vasoconstriction, penile erection, sperm ejaculation, maternal behavior, cellular response to water deprivation, positive regulation of renal sodium excretion, social behavior, positive regulation of cellular pH reduction, positive regulation of prostaglandin biosynthetic process, positive regulation of cell growth, telencephalon development, calcium-mediated signaling, myotube differentiation, positive regulation of glutamate secretion, positive regulation of heart rate, positive regulation of cell population proliferation, blood circulation, grooming behavior, negative regulation of female receptivity, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, generation of precursor metabolites and energy, positive regulation of systemic arterial blood pressure, maternal aggressive behavior, regulation of systemic arterial blood pressure by vasopressin, 0 0 1 0 1 0 1 0 0 ENSG00000166152 chr16 49373823 49399431 + C16orf78 protein_coding 123970 GO:0005634, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000166153 chr12 100203669 100267079 - DEPDC4 protein_coding 120863 GO:0035556, intracellular signal transduction, 0 0 0 8 1 1 2 0 0 ENSG00000166159 chr12 1820267 1836752 + LRTM2 protein_coding 654429 GO:0016021, integral component of membrane, GO:0048495, GO:0008201, Roundabout binding, heparin binding, GO:0051965, GO:0050919, GO:0007411, positive regulation of synapse assembly, negative chemotaxis, axon guidance, 0 0 0 0 1 0 0 2 12 ENSG00000166160 chrX 154219756 154233286 + OPN1MW2 protein_coding This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]. 728458 GO:0097381, GO:0005887, GO:0005886, GO:0001750, photoreceptor disc membrane, integral component of plasma membrane, plasma membrane, photoreceptor outer segment, GO:0042802, GO:0009881, GO:0008020, identical protein binding, photoreceptor activity, G protein-coupled photoreceptor activity, GO:0071482, GO:0032467, GO:0018298, GO:0009584, GO:0007602, GO:0007601, GO:0007186, GO:0007186, GO:0001523, cellular response to light stimulus, positive regulation of cytokinesis, protein-chromophore linkage, detection of visible light, phototransduction, visual perception, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000166164 chr16 50313487 50368934 - BRD7 protein_coding This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]. 29117 GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0070577, GO:0070577, GO:0042393, GO:0008134, GO:0005515, GO:0003714, GO:0003714, GO:0003713, GO:0002039, GO:0000976, lysine-acetylated histone binding, lysine-acetylated histone binding, histone binding, transcription factor binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, p53 binding, transcription regulatory region sequence-specific DNA binding, GO:2000134, GO:1901796, GO:0045893, GO:0045892, GO:0035066, GO:0016055, GO:0008285, GO:0007049, GO:0006357, GO:0006357, negative regulation of G1/S transition of mitotic cell cycle, regulation of signal transduction by p53 class mediator, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of histone acetylation, Wnt signaling pathway, negative regulation of cell population proliferation, cell cycle, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 780 997 1245 887 1433 1639 991 1001 1193 ENSG00000166165 chr14 103519659 103523111 - CKB protein_coding The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]. 1152 GO:0070062, GO:0043025, GO:0030425, GO:0005829, GO:0005829, GO:0005634, GO:0005615, GO:0005615, extracellular exosome, neuronal cell body, dendrite, cytosol, cytosol, nucleus, extracellular space, extracellular space, GO:0031625, GO:0016301, GO:0005524, GO:0005515, GO:0004111, GO:0004111, ubiquitin protein ligase binding, kinase activity, ATP binding, protein binding, creatine kinase activity, creatine kinase activity, GO:0046314, GO:0030644, GO:0021762, GO:0021549, GO:0016310, GO:0006600, phosphocreatine biosynthetic process, cellular chloride ion homeostasis, substantia nigra development, cerebellum development, phosphorylation, creatine metabolic process, 8 11 28 8 7 28 9 7 8 ENSG00000166166 chr14 103529184 103537073 + TRMT61A protein_coding 115708 GO:0031515, GO:0005654, GO:0005634, tRNA (m1A) methyltransferase complex, nucleoplasm, nucleus, GO:0061953, GO:0016429, GO:0005515, mRNA (adenine-N1-)-methyltransferase activity, tRNA (adenine-N1-)-methyltransferase activity, protein binding, GO:0080009, GO:0030488, GO:0006400, mRNA methylation, tRNA methylation, tRNA modification, 2 8 18 23 11 41 28 4 7 ENSG00000166167 chr10 101354033 101557321 + BTRC protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]. 8945 GO:0019005, GO:0019005, GO:0005829, GO:0005654, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, nucleoplasm, GO:1990757, GO:1990756, GO:0061630, GO:0046983, GO:0045309, GO:0016874, GO:0008013, GO:0005515, GO:0004842, ubiquitin ligase activator activity, ubiquitin ligase-substrate adaptor activity, ubiquitin protein ligase activity, protein dimerization activity, protein phosphorylated amino acid binding, ligase activity, beta-catenin binding, protein binding, ubiquitin-protein transferase activity, GO:1904668, GO:1901990, GO:0071407, GO:0070936, GO:0070498, GO:0061136, GO:0060828, GO:0060444, GO:0051403, GO:0050852, GO:0048511, GO:0045893, GO:0045892, GO:0045879, GO:0045862, GO:0043687, GO:0043433, GO:0043161, GO:0043122, GO:0042753, GO:0042752, GO:0038095, GO:0038061, GO:0033598, GO:0031648, GO:0031146, GO:0016567, GO:0016567, GO:0016567, GO:0016055, GO:0016032, GO:0007165, GO:0006511, GO:0006470, GO:0002223, GO:0000209, GO:0000209, GO:0000209, GO:0000086, positive regulation of ubiquitin protein ligase activity, regulation of mitotic cell cycle phase transition, cellular response to organic cyclic compound, protein K48-linked ubiquitination, interleukin-1-mediated signaling pathway, regulation of proteasomal protein catabolic process, regulation of canonical Wnt signaling pathway, branching involved in mammary gland duct morphogenesis, stress-activated MAPK cascade, T cell receptor signaling pathway, rhythmic process, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of smoothened signaling pathway, positive regulation of proteolysis, post-translational protein modification, negative regulation of DNA-binding transcription factor activity, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of circadian rhythm, regulation of circadian rhythm, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, mammary gland epithelial cell proliferation, protein destabilization, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, protein ubiquitination, Wnt signaling pathway, viral process, signal transduction, ubiquitin-dependent protein catabolic process, protein dephosphorylation, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, protein polyubiquitination, protein polyubiquitination, G2/M transition of mitotic cell cycle, 53 51 74 56 67 75 66 42 45 ENSG00000166169 chr10 101578882 101588270 - POLL protein_coding This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]. 27343 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0051575, GO:0046872, GO:0003887, GO:0003887, GO:0003887, GO:0003887, GO:0003677, 5'-deoxyribose-5-phosphate lyase activity, metal ion binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, DNA binding, GO:0071897, GO:0016446, GO:0006303, GO:0006303, GO:0006303, GO:0006289, GO:0006287, GO:0006260, GO:0000724, DNA biosynthetic process, somatic hypermutation of immunoglobulin genes, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, nucleotide-excision repair, base-excision repair, gap-filling, DNA replication, double-strand break repair via homologous recombination, 16 22 45 55 28 47 41 26 35 ENSG00000166170 chr14 103556544 103562831 - BAG5 protein_coding The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9529 GO:0048471, GO:0016234, GO:0016020, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005634, GO:0005634, GO:0005634, perinuclear region of cytoplasm, inclusion body, membrane, membrane, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, nucleus, nucleus, nucleus, GO:0051087, GO:0051087, GO:0031625, GO:0031625, GO:0031072, GO:0019901, GO:0005515, GO:0000774, chaperone binding, chaperone binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, heat shock protein binding, protein kinase binding, protein binding, adenyl-nucleotide exchange factor activity, GO:1902176, GO:1900034, GO:0090083, GO:0090083, GO:0070997, GO:0061084, GO:0051444, GO:0051438, GO:0050821, GO:0050821, GO:0032435, GO:0031397, GO:0031397, GO:0031397, GO:0031397, GO:0010977, GO:0007030, GO:0006457, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, regulation of cellular response to heat, regulation of inclusion body assembly, regulation of inclusion body assembly, neuron death, negative regulation of protein refolding, negative regulation of ubiquitin-protein transferase activity, regulation of ubiquitin-protein transferase activity, protein stabilization, protein stabilization, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, negative regulation of protein ubiquitination, negative regulation of protein ubiquitination, negative regulation of protein ubiquitination, negative regulation of neuron projection development, Golgi organization, protein folding, 323 332 448 182 255 276 157 201 234 ENSG00000166171 chr10 101570560 101609668 + DPCD protein_coding This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]. 25911 GO:0005634, GO:0005576, nucleus, extracellular region, GO:0005515, protein binding, GO:0060972, GO:0030317, GO:0021678, GO:0021670, GO:0007368, GO:0007283, GO:0003351, left/right pattern formation, flagellated sperm motility, third ventricle development, lateral ventricle development, determination of left/right symmetry, spermatogenesis, epithelial cilium movement involved in extracellular fluid movement, 5 2 8 26 12 9 26 11 7 ENSG00000166173 chr15 70829130 70854159 - LARP6 protein_coding 55323 GO:1990904, GO:1990904, GO:0005844, GO:0005844, GO:0005737, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, polysome, polysome, cytoplasm, nucleus, GO:1990825, GO:0048027, GO:0048027, GO:0035613, GO:0035613, GO:0017022, GO:0005515, sequence-specific mRNA binding, mRNA 5'-UTR binding, mRNA 5'-UTR binding, RNA stem-loop binding, RNA stem-loop binding, myosin binding, protein binding, GO:1902416, GO:1902416, GO:0045727, GO:0032967, GO:0006396, positive regulation of mRNA binding, positive regulation of mRNA binding, positive regulation of translation, positive regulation of collagen biosynthetic process, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000166181 chr11 43311963 43344529 + API5 protein_coding This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 8539 GO:0016607, GO:0016020, GO:0005737, GO:0005681, GO:0005634, GO:0005634, nuclear speck, membrane, cytoplasm, spliceosomal complex, nucleus, nucleus, GO:0017134, GO:0005515, GO:0003723, GO:0003723, fibroblast growth factor binding, protein binding, RNA binding, RNA binding, GO:2000270, GO:0043066, GO:0043066, GO:0043066, GO:0043066, GO:0006915, negative regulation of fibroblast apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, apoptotic process, 195 142 276 269 140 194 201 124 169 ENSG00000166183 chr14 104085679 104115581 + ASPG protein_coding 374569 GO:0005829, cytosol, GO:0102545, GO:0016747, GO:0005515, GO:0004622, GO:0004067, GO:0004067, GO:0003847, phosphatidyl phospholipase B activity, transferase activity, transferring acyl groups other than amino-acyl groups, protein binding, lysophospholipase activity, asparaginase activity, asparaginase activity, 1-alkyl-2-acetylglycerophosphocholine esterase activity, GO:0016042, GO:0008652, lipid catabolic process, cellular amino acid biosynthetic process, 1 0 0 0 0 0 1 0 0 ENSG00000166188 chr16 57994668 58000453 - ZNF319 protein_coding 57567 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 429 293 513 100 191 239 211 167 211 ENSG00000166189 chr10 102065390 102068038 + HPS6 protein_coding This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]. 79803 GO:0031901, GO:0031084, GO:0031084, GO:0016020, GO:0005783, GO:0005765, GO:0005765, early endosome membrane, BLOC-2 complex, BLOC-2 complex, membrane, endoplasmic reticulum, lysosomal membrane, lysosomal membrane, GO:0031267, GO:0031267, GO:0030742, GO:0005515, small GTPase binding, small GTPase binding, GTP-dependent protein binding, protein binding, GO:0072657, GO:0072657, GO:0032418, GO:0032418, GO:0030318, GO:0007596, GO:0006996, protein localization to membrane, protein localization to membrane, lysosome localization, lysosome localization, melanocyte differentiation, blood coagulation, organelle organization, 80 63 89 12 13 26 22 26 34 ENSG00000166192 chr15 72114258 72143688 + SENP8 protein_coding This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. 123228 GO:0005829, cytosol, GO:0019784, GO:0005515, NEDD8-specific protease activity, protein binding, GO:0043687, GO:0016579, post-translational protein modification, protein deubiquitination, 2 2 0 6 1 0 5 0 0 ENSG00000166197 chr10 102152176 102163871 + NOLC1 protein_coding 9221 GO:0031429, GO:0031428, GO:0015030, GO:0005737, GO:0005730, GO:0005654, GO:0001650, box H/ACA snoRNP complex, box C/D snoRNP complex, Cajal body, cytoplasm, nucleolus, nucleoplasm, fibrillar center, GO:0062065, GO:0062064, GO:0046982, GO:0034513, GO:0034512, GO:0030674, GO:0019904, GO:0008139, GO:0008134, GO:0005525, GO:0005524, GO:0005515, GO:0003723, GO:0003700, GO:0003677, box H/ACA snoRNP complex binding, box C/D snoRNP complex binding, protein heterodimerization activity, box H/ACA snoRNA binding, box C/D snoRNA binding, protein-macromolecule adaptor activity, protein domain specific binding, nuclear localization sequence binding, transcription factor binding, GTP binding, ATP binding, protein binding, RNA binding, DNA-binding transcription factor activity, DNA binding, GO:0045893, GO:0042306, GO:0033979, GO:0014032, GO:0014029, GO:0008284, GO:0007000, GO:0006970, GO:0006417, GO:0006364, GO:0000278, positive regulation of transcription, DNA-templated, regulation of protein import into nucleus, box H/ACA snoRNA metabolic process, neural crest cell development, neural crest formation, positive regulation of cell population proliferation, nucleolus organization, response to osmotic stress, regulation of translation, rRNA processing, mitotic cell cycle, 310 304 410 1076 826 1050 1091 644 740 ENSG00000166199 chr11 43880811 43920266 + ALKBH3 protein_coding The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]. 221120 GO:0005829, GO:0005739, GO:0005654, GO:0005654, GO:0005634, cytosol, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:1990930, GO:0043734, GO:0043734, GO:0031418, GO:0008198, GO:0005515, RNA N1-methyladenosine dioxygenase activity, DNA-N1-methyladenine dioxygenase activity, DNA-N1-methyladenine dioxygenase activity, L-ascorbic acid binding, ferrous iron binding, protein binding, GO:0035553, GO:0035552, GO:0035552, GO:0008283, GO:0006307, GO:0006307, GO:0006281, oxidative single-stranded RNA demethylation, oxidative single-stranded DNA demethylation, oxidative single-stranded DNA demethylation, cell population proliferation, DNA dealkylation involved in DNA repair, DNA dealkylation involved in DNA repair, DNA repair, 11 11 14 20 33 28 26 16 13 ENSG00000166200 chr15 49106068 49155661 - COPS2 protein_coding 9318 GO:0008180, GO:0008180, GO:0005829, GO:0005737, GO:0005654, COP9 signalosome, COP9 signalosome, cytosol, cytoplasm, nucleoplasm, GO:0005515, GO:0003714, protein binding, transcription corepressor activity, GO:1903507, GO:0045892, GO:0043687, GO:0035914, GO:0030182, GO:0007165, GO:0006468, GO:0006366, GO:0006283, GO:0001833, GO:0000715, GO:0000338, GO:0000122, negative regulation of nucleic acid-templated transcription, negative regulation of transcription, DNA-templated, post-translational protein modification, skeletal muscle cell differentiation, neuron differentiation, signal transduction, protein phosphorylation, transcription by RNA polymerase II, transcription-coupled nucleotide-excision repair, inner cell mass cell proliferation, nucleotide-excision repair, DNA damage recognition, protein deneddylation, negative regulation of transcription by RNA polymerase II, 318 226 394 224 262 317 242 214 214 ENSG00000166206 chr15 26543546 26939539 - GABRB3 protein_coding This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]. 2562 GO:1902711, GO:1902711, GO:1902711, GO:1902711, GO:0098982, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0030659, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GABA-A receptor complex, GABA-A receptor complex, GABA-A receptor complex, GABA-A receptor complex, GABA-ergic synapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, cytoplasmic vesicle membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1904315, GO:0042802, GO:0030594, GO:0022851, GO:0022851, GO:0022851, GO:0005254, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, identical protein binding, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, GABA-gated chloride ion channel activity, GABA-gated chloride ion channel activity, chloride channel activity, GABA-A receptor activity, GO:1904862, GO:1902476, GO:1902476, GO:1902476, GO:1902476, GO:0090102, GO:0071420, GO:0060384, GO:0060119, GO:0060080, GO:0060021, GO:0050877, GO:0043524, GO:0042391, GO:0034220, GO:0007605, GO:0007268, GO:0007214, GO:0007165, inhibitory synapse assembly, chloride transmembrane transport, chloride transmembrane transport, chloride transmembrane transport, chloride transmembrane transport, cochlea development, cellular response to histamine, innervation, inner ear receptor cell development, inhibitory postsynaptic potential, roof of mouth development, nervous system process, negative regulation of neuron apoptotic process, regulation of membrane potential, ion transmembrane transport, sensory perception of sound, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000166211 chr12 101475421 101486997 + SPIC protein_coding The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016]. 121599 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030154, GO:0006357, GO:0001824, positive regulation of transcription by RNA polymerase II, cell differentiation, regulation of transcription by RNA polymerase II, blastocyst development, 0 0 0 0 0 0 0 0 0 ENSG00000166220 chr10 70771239 70785401 - TBATA protein_coding This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 219793 GO:0036064, GO:0005829, ciliary basal body, cytosol, GO:0005515, protein binding, GO:0030154, GO:0007283, GO:0007275, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000166224 chr10 70815961 70881173 + SGPL1 protein_coding 8879 GO:0030176, GO:0005789, GO:0005783, GO:0005783, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0030170, GO:0016831, GO:0008117, GO:0008117, GO:0008117, GO:0008117, GO:0008117, GO:0005515, pyridoxal phosphate binding, carboxy-lyase activity, sphinganine-1-phosphate aldolase activity, sphinganine-1-phosphate aldolase activity, sphinganine-1-phosphate aldolase activity, sphinganine-1-phosphate aldolase activity, sphinganine-1-phosphate aldolase activity, protein binding, GO:0097190, GO:0060325, GO:0060021, GO:0048705, GO:0048008, GO:0040014, GO:0033327, GO:0030149, GO:0030149, GO:0030149, GO:0030149, GO:0030148, GO:0030097, GO:0010761, GO:0009791, GO:0008210, GO:0008209, GO:0007283, GO:0006672, GO:0006631, GO:0001822, GO:0001667, GO:0001570, GO:0001553, apoptotic signaling pathway, face morphogenesis, roof of mouth development, skeletal system morphogenesis, platelet-derived growth factor receptor signaling pathway, regulation of multicellular organism growth, Leydig cell differentiation, sphingolipid catabolic process, sphingolipid catabolic process, sphingolipid catabolic process, sphingolipid catabolic process, sphingolipid biosynthetic process, hemopoiesis, fibroblast migration, post-embryonic development, estrogen metabolic process, androgen metabolic process, spermatogenesis, ceramide metabolic process, fatty acid metabolic process, kidney development, ameboidal-type cell migration, vasculogenesis, luteinization, 314 274 347 281 240 265 236 192 198 ENSG00000166225 chr12 69470349 69579789 + FRS2 protein_coding 10818 GO:0016020, GO:0012505, GO:0005912, GO:0005887, GO:0005886, GO:0005829, membrane, endomembrane system, adherens junction, integral component of plasma membrane, plasma membrane, cytosol, GO:0019211, GO:0005515, GO:0005168, GO:0005104, GO:0005068, phosphatase activator activity, protein binding, neurotrophin TRKA receptor binding, fibroblast growth factor receptor binding, transmembrane receptor protein tyrosine kinase adaptor activity, GO:2000726, GO:0070372, GO:0070307, GO:0060527, GO:0051897, GO:0050678, GO:0048011, GO:0046619, GO:0042981, GO:0030900, GO:0008595, GO:0008543, GO:0008543, GO:0007411, GO:0007405, GO:0007186, GO:0007185, GO:0003281, GO:0001759, GO:0001702, GO:0000187, GO:0000186, GO:0000165, negative regulation of cardiac muscle cell differentiation, regulation of ERK1 and ERK2 cascade, lens fiber cell development, prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis, positive regulation of protein kinase B signaling, regulation of epithelial cell proliferation, neurotrophin TRK receptor signaling pathway, optic placode formation involved in camera-type eye formation, regulation of apoptotic process, forebrain development, anterior/posterior axis specification, embryo, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, axon guidance, neuroblast proliferation, G protein-coupled receptor signaling pathway, transmembrane receptor protein tyrosine phosphatase signaling pathway, ventricular septum development, organ induction, gastrulation with mouth forming second, activation of MAPK activity, activation of MAPKK activity, MAPK cascade, 224 214 317 174 243 316 176 147 216 ENSG00000166226 chr12 69585334 69601570 + CCT2 protein_coding The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 10576 GO:0070062, GO:0044297, GO:0035578, GO:0005874, GO:0005832, GO:0005832, GO:0005829, GO:0005829, GO:0005829, GO:0005576, GO:0002199, extracellular exosome, cell body, azurophil granule lumen, microtubule, chaperonin-containing T-complex, chaperonin-containing T-complex, cytosol, cytosol, cytosol, extracellular region, zona pellucida receptor complex, GO:0051082, GO:0051082, GO:0044183, GO:0031625, GO:0005524, GO:0005515, unfolded protein binding, unfolded protein binding, protein folding chaperone, ubiquitin protein ligase binding, ATP binding, protein binding, GO:1904874, GO:1904874, GO:1904871, GO:1904851, GO:1901998, GO:0090666, GO:0051973, GO:0051131, GO:0051086, GO:0050821, GO:0043312, GO:0032212, GO:0007339, GO:0006457, GO:0006457, GO:0006457, positive regulation of telomerase RNA localization to Cajal body, positive regulation of telomerase RNA localization to Cajal body, positive regulation of protein localization to Cajal body, positive regulation of establishment of protein localization to telomere, toxin transport, scaRNA localization to Cajal body, positive regulation of telomerase activity, chaperone-mediated protein complex assembly, chaperone mediated protein folding independent of cofactor, protein stabilization, neutrophil degranulation, positive regulation of telomere maintenance via telomerase, binding of sperm to zona pellucida, protein folding, protein folding, protein folding, 77 76 148 235 84 207 122 108 170 ENSG00000166228 chr10 70882280 70888784 - PCBD1 protein_coding This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 5092 GO:0070062, GO:0005829, GO:0005829, GO:0005654, extracellular exosome, cytosol, cytosol, nucleoplasm, GO:0042802, GO:0008124, GO:0005515, GO:0004505, GO:0003713, identical protein binding, 4-alpha-hydroxytetrahydrobiopterin dehydratase activity, protein binding, phenylalanine 4-monooxygenase activity, transcription coactivator activity, GO:0055114, GO:0045893, GO:0043393, GO:0006729, GO:0006559, oxidation-reduction process, positive regulation of transcription, DNA-templated, regulation of protein binding, tetrahydrobiopterin biosynthetic process, L-phenylalanine catabolic process, 5 1 6 3 6 13 12 2 2 ENSG00000166233 chr15 72474326 72602985 + ARIH1 protein_coding 25820 GO:0097413, GO:0031464, GO:0031463, GO:0031462, GO:0031462, GO:0019005, GO:0016604, GO:0015030, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0000151, GO:0000151, Lewy body, Cul4A-RING E3 ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, SCF ubiquitin ligase complex, nuclear body, Cajal body, cytosol, cytoplasm, cytoplasm, nucleus, ubiquitin ligase complex, ubiquitin ligase complex, GO:0061630, GO:0031625, GO:0031624, GO:0031624, GO:0019787, GO:0008270, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase binding, ubiquitin conjugating enzyme binding, ubiquitin conjugating enzyme binding, ubiquitin-like protein transferase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0032436, GO:0016567, GO:0006511, GO:0006511, GO:0000209, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 3455 2656 6200 1590 1720 2783 1470 1209 1686 ENSG00000166246 chr16 4734272 4749396 + C16orf71 protein_coding 146562 4 0 2 8 2 0 2 0 7 ENSG00000166250 chr11 123069865 123195281 - CLMP protein_coding This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]. 79827 GO:0016021, GO:0009986, GO:0005923, GO:0005886, GO:0005881, integral component of membrane, cell surface, bicellular tight junction, plasma membrane, cytoplasmic microtubule, GO:0005515, protein binding, GO:0048565, digestive tract development, 12 13 15 18 14 18 10 11 9 ENSG00000166257 chr11 123629187 123655244 - SCN3B protein_coding Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 55800 GO:0030018, GO:0016021, GO:0005886, GO:0001518, GO:0001518, GO:0001518, Z disc, integral component of membrane, plasma membrane, voltage-gated sodium channel complex, voltage-gated sodium channel complex, voltage-gated sodium channel complex, GO:0086006, GO:0086006, GO:0044325, GO:0044325, GO:0019871, GO:0017080, GO:0017080, GO:0005515, GO:0005244, voltage-gated sodium channel activity involved in cardiac muscle cell action potential, voltage-gated sodium channel activity involved in cardiac muscle cell action potential, ion channel binding, ion channel binding, sodium channel inhibitor activity, sodium channel regulator activity, sodium channel regulator activity, protein binding, voltage-gated ion channel activity, GO:2000649, GO:2000649, GO:0086091, GO:0086091, GO:0086015, GO:0086014, GO:0086012, GO:0086010, GO:0086010, GO:0086005, GO:0086005, GO:0086002, GO:0086002, GO:0072659, GO:0060373, GO:0060371, GO:0060048, GO:0051899, GO:0035725, GO:0019233, GO:0010765, GO:0010765, GO:0010460, GO:0007399, GO:0006814, regulation of sodium ion transmembrane transporter activity, regulation of sodium ion transmembrane transporter activity, regulation of heart rate by cardiac conduction, regulation of heart rate by cardiac conduction, SA node cell action potential, atrial cardiac muscle cell action potential, membrane depolarization during cardiac muscle cell action potential, membrane depolarization during action potential, membrane depolarization during action potential, ventricular cardiac muscle cell action potential, ventricular cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, cardiac muscle cell action potential involved in contraction, protein localization to plasma membrane, regulation of ventricular cardiac muscle cell membrane depolarization, regulation of atrial cardiac muscle cell membrane depolarization, cardiac muscle contraction, membrane depolarization, sodium ion transmembrane transport, sensory perception of pain, positive regulation of sodium ion transport, positive regulation of sodium ion transport, positive regulation of heart rate, nervous system development, sodium ion transport, 4 2 0 2 6 3 0 0 1 ENSG00000166260 chr17 54951902 54968785 - COX11 protein_coding Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]. 1353 GO:0032991, GO:0031305, GO:0031304, GO:0005739, protein-containing complex, integral component of mitochondrial inner membrane, intrinsic component of mitochondrial inner membrane, mitochondrion, GO:0009055, GO:0005515, GO:0005507, electron transfer activity, protein binding, copper ion binding, GO:0055065, GO:0033132, GO:0022900, metal ion homeostasis, negative regulation of glucokinase activity, electron transport chain, 27 10 24 80 38 45 47 19 57 ENSG00000166261 chr11 123724177 123741675 - ZNF202 protein_coding 7753 GO:0016604, GO:0005730, GO:0000785, nuclear body, nucleolus, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006629, GO:0006357, GO:0000122, lipid metabolic process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 12 8 27 22 6 35 27 10 32 ENSG00000166262 chr15 49326962 49620931 - FAM227B protein_coding 196951 12 20 36 32 28 54 29 24 32 ENSG00000166263 chr17 54968727 55173632 + STXBP4 protein_coding 252983 GO:0070062, GO:0045335, extracellular exosome, phagocytic vesicle, GO:0019905, GO:0005515, syntaxin binding, protein binding, GO:1902808, GO:0071346, GO:0061178, GO:0050821, GO:0010838, GO:0010827, GO:0008286, GO:0006974, GO:0006605, positive regulation of cell cycle G1/S phase transition, cellular response to interferon-gamma, regulation of insulin secretion involved in cellular response to glucose stimulus, protein stabilization, positive regulation of keratinocyte proliferation, regulation of glucose transmembrane transport, insulin receptor signaling pathway, cellular response to DNA damage stimulus, protein targeting, 4 0 19 16 2 29 10 4 19 ENSG00000166265 chr21 26466209 26573284 - CYYR1 protein_coding 116159 GO:0016021, integral component of membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 16 6 0 0 1 2 5 0 0 ENSG00000166266 chr11 108008733 108107776 + CUL5 protein_coding 8065 GO:0090734, GO:0031466, GO:0031466, GO:0031461, GO:0019005, GO:0005829, site of DNA damage, Cul5-RING ubiquitin ligase complex, Cul5-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, GO:0038023, GO:0031625, GO:0031625, GO:0005515, GO:0005262, GO:0004842, GO:0004842, signaling receptor activity, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, calcium channel activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0097193, GO:0070588, GO:0043687, GO:0038128, GO:0031146, GO:0016567, GO:0016567, GO:0016032, GO:0000082, intrinsic apoptotic signaling pathway, calcium ion transmembrane transport, post-translational protein modification, ERBB2 signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, viral process, G1/S transition of mitotic cell cycle, 115 98 120 167 104 165 132 70 90 ENSG00000166268 chr12 69825304 69959097 + MYRFL protein_coding 196446 GO:0016021, GO:0005789, GO:0005634, integral component of membrane, endoplasmic reticulum membrane, nucleus, GO:0043565, GO:0003700, sequence-specific DNA binding, DNA-binding transcription factor activity, GO:0045893, GO:0016540, positive regulation of transcription, DNA-templated, protein autoprocessing, 1 0 0 1 5 0 2 4 0 ENSG00000166272 chr10 102743901 102834516 + WBP1L protein_coding 54838 GO:0016021, integral component of membrane, GO:0005515, protein binding, 826 856 883 359 710 493 510 550 386 ENSG00000166275 chr10 102854223 102864961 + BORCS7 protein_coding 119032 GO:0099078, GO:0099078, GO:0005765, BORC complex, BORC complex, lysosomal membrane, GO:0005515, protein binding, 102 166 152 58 79 67 37 80 52 ENSG00000166278 chr6 31897785 31945672 + C2 protein_coding Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]. 717 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0046872, GO:0005515, GO:0004252, metal ion binding, protein binding, serine-type endopeptidase activity, GO:2000427, GO:0045087, GO:0030449, GO:0007584, GO:0006958, GO:0006956, GO:0006956, GO:0006508, positive regulation of apoptotic cell clearance, innate immune response, regulation of complement activation, response to nutrient, complement activation, classical pathway, complement activation, complement activation, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000166289 chr19 29665056 29675457 + PLEKHF1 protein_coding 79156 GO:0048471, GO:0010008, GO:0005768, GO:0005765, GO:0005764, GO:0005634, perinuclear region of cytoplasm, endosome membrane, endosome, lysosomal membrane, lysosome, nucleus, GO:0070273, GO:0046872, GO:0035091, GO:0032266, GO:0010314, GO:0005515, phosphatidylinositol-4-phosphate binding, metal ion binding, phosphatidylinositol binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, protein binding, GO:2001244, GO:0072659, GO:0016050, GO:0010508, GO:0007032, GO:0006915, positive regulation of intrinsic apoptotic signaling pathway, protein localization to plasma membrane, vesicle organization, positive regulation of autophagy, endosome organization, apoptotic process, 20 21 49 33 7 26 34 14 27 ENSG00000166292 chr17 55719627 55732121 - TMEM100 protein_coding 55273 GO:0048471, GO:0043204, GO:0016021, GO:0005886, GO:0005886, GO:0005783, perinuclear region of cytoplasm, perikaryon, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0005515, GO:0003674, protein binding, molecular_function, GO:2001214, GO:0071773, GO:0071773, GO:0060842, GO:0051930, GO:0050848, GO:0045603, GO:0043491, GO:0030509, GO:0007219, GO:0003198, GO:0001701, GO:0001570, GO:0001525, positive regulation of vasculogenesis, cellular response to BMP stimulus, cellular response to BMP stimulus, arterial endothelial cell differentiation, regulation of sensory perception of pain, regulation of calcium-mediated signaling, positive regulation of endothelial cell differentiation, protein kinase B signaling, BMP signaling pathway, Notch signaling pathway, epithelial to mesenchymal transition involved in endocardial cushion formation, in utero embryonic development, vasculogenesis, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000166295 chr10 72216000 72235860 + ANAPC16 protein_coding 119504 GO:0005829, GO:0005829, GO:0005829, GO:0005680, GO:0005680, GO:0005654, GO:0000777, GO:0000776, GO:0000776, cytosol, cytosol, cytosol, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0005515, protein binding, GO:1901990, GO:0051301, GO:0031145, GO:0016567, GO:0016567, GO:0016567, GO:0007049, GO:0006511, regulation of mitotic cell cycle phase transition, cell division, anaphase-promoting complex-dependent catabolic process, protein ubiquitination, protein ubiquitination, protein ubiquitination, cell cycle, ubiquitin-dependent protein catabolic process, 457 380 682 348 330 463 272 329 340 ENSG00000166311 chr11 6390431 6394998 + SMPD1 protein_coding The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]. 6609 GO:0070062, GO:0043202, GO:0042599, GO:0005886, GO:0005768, GO:0005764, GO:0005764, GO:0005615, GO:0005615, extracellular exosome, lysosomal lumen, lamellar body, plasma membrane, endosome, lysosome, lysosome, extracellular space, extracellular space, GO:0061750, GO:0061750, GO:0016798, GO:0008270, GO:0008081, GO:0005515, GO:0004767, acid sphingomyelin phosphodiesterase activity, acid sphingomyelin phosphodiesterase activity, hydrolase activity, acting on glycosyl bonds, zinc ion binding, phosphoric diester hydrolase activity, protein binding, sphingomyelin phosphodiesterase activity, GO:0046513, GO:0046513, GO:0046513, GO:0043407, GO:0043065, GO:0042493, GO:0042220, GO:0035307, GO:0023021, GO:0008203, GO:0007399, GO:0007165, GO:0006687, GO:0006685, GO:0006685, GO:0006684, ceramide biosynthetic process, ceramide biosynthetic process, ceramide biosynthetic process, negative regulation of MAP kinase activity, positive regulation of apoptotic process, response to drug, response to cocaine, positive regulation of protein dephosphorylation, termination of signal transduction, cholesterol metabolic process, nervous system development, signal transduction, glycosphingolipid metabolic process, sphingomyelin catabolic process, sphingomyelin catabolic process, sphingomyelin metabolic process, 168 225 226 466 411 513 652 432 368 ENSG00000166313 chr11 6395124 6419414 - APBB1 protein_coding The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]. 322 GO:1990812, GO:1990761, GO:0048471, GO:0045211, GO:0045202, GO:0044304, GO:0043197, GO:0043025, GO:0042734, GO:0032991, GO:0030426, GO:0030027, GO:0016607, GO:0005886, GO:0005783, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, growth cone filopodium, growth cone lamellipodium, perinuclear region of cytoplasm, postsynaptic membrane, synapse, main axon, dendritic spine, neuronal cell body, presynaptic membrane, protein-containing complex, growth cone, lamellipodium, nuclear speck, plasma membrane, endoplasmic reticulum, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0070064, GO:0048156, GO:0044877, GO:0042393, GO:0031625, GO:0008134, GO:0008134, GO:0005515, GO:0003682, GO:0001540, GO:0001540, GO:0001540, GO:0001540, proline-rich region binding, tau protein binding, protein-containing complex binding, histone binding, ubiquitin protein ligase binding, transcription factor binding, transcription factor binding, protein binding, chromatin binding, amyloid-beta binding, amyloid-beta binding, amyloid-beta binding, amyloid-beta binding, GO:0050714, GO:0045944, GO:0045893, GO:0045739, GO:0043967, GO:0043065, GO:0030308, GO:0010976, GO:0010039, GO:0007409, GO:0007165, GO:0007050, GO:0006974, GO:0006915, GO:0006355, GO:0006302, GO:0000122, positive regulation of protein secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of DNA repair, histone H4 acetylation, positive regulation of apoptotic process, negative regulation of cell growth, positive regulation of neuron projection development, response to iron ion, axonogenesis, signal transduction, cell cycle arrest, cellular response to DNA damage stimulus, apoptotic process, regulation of transcription, DNA-templated, double-strand break repair, negative regulation of transcription by RNA polymerase II, 30 25 59 93 50 94 100 29 91 ENSG00000166317 chr10 73644881 73663803 - SYNPO2L protein_coding 79933 GO:0030054, GO:0030018, GO:0030018, GO:0016607, GO:0015629, GO:0005829, GO:0005654, GO:0005634, cell junction, Z disc, Z disc, nuclear speck, actin cytoskeleton, cytosol, nucleoplasm, nucleus, GO:0003779, actin binding, GO:0051496, GO:0045214, GO:0035025, GO:0032233, GO:0003007, positive regulation of stress fiber assembly, sarcomere organization, positive regulation of Rho protein signal transduction, positive regulation of actin filament bundle assembly, heart morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000166321 chr10 73110375 73131828 + NUDT13 protein_coding 25961 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0046872, GO:0035529, GO:0016462, GO:0000210, metal ion binding, NADH pyrophosphatase activity, pyrophosphatase activity, NAD+ diphosphatase activity, GO:0015949, GO:0006742, GO:0006734, nucleobase-containing small molecule interconversion, NADP catabolic process, NADH metabolic process, 27 36 32 32 44 40 44 27 37 ENSG00000166323 chr11 108308519 108467531 - C11orf65 protein_coding 160140 GO:0005829, GO:0005741, cytosol, mitochondrial outer membrane, GO:0005515, protein binding, GO:1903215, GO:0090258, negative regulation of protein targeting to mitochondrion, negative regulation of mitochondrial fission, 45 73 126 74 77 109 75 48 126 ENSG00000166326 chr11 35662805 35818007 + TRIM44 protein_coding This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]. 54765 GO:0005737, cytoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:1901224, GO:0061944, GO:0050821, GO:0045893, GO:0016567, GO:0010468, GO:0002230, GO:0001961, positive regulation of NIK/NF-kappaB signaling, negative regulation of protein K48-linked ubiquitination, protein stabilization, positive regulation of transcription, DNA-templated, protein ubiquitination, regulation of gene expression, positive regulation of defense response to virus by host, positive regulation of cytokine-mediated signaling pathway, 83 105 196 260 101 345 250 110 275 ENSG00000166329 chr17 57744481 57745312 - CCDC182 protein_coding 101927581 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008585, female gonad development, 0 0 0 0 0 0 0 0 0 ENSG00000166333 chr11 6603708 6610874 + ILK protein_coding This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 3611 GO:0043198, GO:0043195, GO:0043034, GO:0043025, GO:0032991, GO:0030054, GO:0030027, GO:0030017, GO:0016020, GO:0005925, GO:0005925, GO:0005925, GO:0005911, GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0001725, dendritic shaft, terminal bouton, costamere, neuronal cell body, protein-containing complex, cell junction, lamellipodium, sarcomere, membrane, focal adhesion, focal adhesion, focal adhesion, cell-cell junction, plasma membrane, cytosol, cytosol, nucleoplasm, stress fiber, GO:0106311, GO:0106310, GO:0019901, GO:0017124, GO:0005524, GO:0005515, GO:0005178, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, protein kinase binding, SH3 domain binding, ATP binding, protein binding, integrin binding, protein serine/threonine kinase activity, protein kinase activity, GO:2000178, GO:1901224, GO:0097435, GO:0090263, GO:0070527, GO:0051897, GO:0050775, GO:0048812, GO:0048662, GO:0045893, GO:0045773, GO:0045669, GO:0045663, GO:0045197, GO:0043524, GO:0043491, GO:0043406, GO:0042327, GO:0034446, GO:0034446, GO:0034329, GO:0033209, GO:0032956, GO:0032288, GO:0030513, GO:0030335, GO:0022011, GO:0021675, GO:0018105, GO:0014912, GO:0010761, GO:0010667, GO:0009967, GO:0008284, GO:0007569, GO:0007229, GO:0007229, GO:0007160, GO:0007050, GO:0006469, GO:0006468, GO:0003151, GO:0001954, GO:0001934, GO:0001658, GO:0000902, negative regulation of neural precursor cell proliferation, positive regulation of NIK/NF-kappaB signaling, supramolecular fiber organization, positive regulation of canonical Wnt signaling pathway, platelet aggregation, positive regulation of protein kinase B signaling, positive regulation of dendrite morphogenesis, neuron projection morphogenesis, negative regulation of smooth muscle cell proliferation, positive regulation of transcription, DNA-templated, positive regulation of axon extension, positive regulation of osteoblast differentiation, positive regulation of myoblast differentiation, establishment or maintenance of epithelial cell apical/basal polarity, negative regulation of neuron apoptotic process, protein kinase B signaling, positive regulation of MAP kinase activity, positive regulation of phosphorylation, substrate adhesion-dependent cell spreading, substrate adhesion-dependent cell spreading, cell junction assembly, tumor necrosis factor-mediated signaling pathway, regulation of actin cytoskeleton organization, myelin assembly, positive regulation of BMP signaling pathway, positive regulation of cell migration, myelination in peripheral nervous system, nerve development, peptidyl-serine phosphorylation, negative regulation of smooth muscle cell migration, fibroblast migration, negative regulation of cardiac muscle cell apoptotic process, positive regulation of signal transduction, positive regulation of cell population proliferation, cell aging, integrin-mediated signaling pathway, integrin-mediated signaling pathway, cell-matrix adhesion, cell cycle arrest, negative regulation of protein kinase activity, protein phosphorylation, outflow tract morphogenesis, positive regulation of cell-matrix adhesion, positive regulation of protein phosphorylation, branching involved in ureteric bud morphogenesis, cell morphogenesis, 623 708 911 658 924 1002 599 617 625 ENSG00000166337 chr11 6606296 6612667 - TAF10 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq, Jul 2008]. 6881 GO:0048471, GO:0033276, GO:0030914, GO:0005737, GO:0005669, GO:0005654, GO:0005654, GO:0005634, GO:0000125, perinuclear region of cytoplasm, transcription factor TFTC complex, STAGA complex, cytoplasm, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, PCAF complex, GO:1990841, GO:0070063, GO:0042802, GO:0030331, GO:0019899, GO:0016251, GO:0016251, GO:0005515, GO:0005515, GO:0004402, GO:0003677, promoter-specific chromatin binding, RNA polymerase binding, identical protein binding, estrogen receptor binding, enzyme binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, protein binding, histone acetyltransferase activity, DNA binding, GO:1901796, GO:0070365, GO:0051101, GO:0043966, GO:0035264, GO:0034622, GO:0016579, GO:0016578, GO:0010468, GO:0006915, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006352, GO:0000082, regulation of signal transduction by p53 class mediator, hepatocyte differentiation, regulation of DNA binding, histone H3 acetylation, multicellular organism growth, cellular protein-containing complex assembly, protein deubiquitination, histone deubiquitination, regulation of gene expression, apoptotic process, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, DNA-templated transcription, initiation, G1/S transition of mitotic cell cycle, 498 520 649 607 881 974 498 545 646 ENSG00000166340 chr11 6612763 6619485 - TPP1 protein_coding This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]. 1200 GO:0070062, GO:0055037, GO:0045121, GO:0043202, GO:0042470, GO:0005794, GO:0005764, GO:0005764, extracellular exosome, recycling endosome, membrane raft, lysosomal lumen, melanosome, Golgi apparatus, lysosome, lysosome, GO:0120146, GO:0046872, GO:0042277, GO:0035727, GO:0008240, GO:0008240, GO:0008240, GO:0008236, GO:0008233, GO:0005515, GO:0004252, GO:0004175, GO:0004175, GO:0004175, sulfatide binding, metal ion binding, peptide binding, lysophosphatidic acid binding, tripeptidyl-peptidase activity, tripeptidyl-peptidase activity, tripeptidyl-peptidase activity, serine-type peptidase activity, peptidase activity, protein binding, serine-type endopeptidase activity, endopeptidase activity, endopeptidase activity, endopeptidase activity, GO:0070198, GO:0050885, GO:0045453, GO:0043171, GO:0036498, GO:0030855, GO:0030163, GO:0007417, GO:0007399, GO:0007040, GO:0006629, GO:0006508, GO:0006508, protein localization to chromosome, telomeric region, neuromuscular process controlling balance, bone resorption, peptide catabolic process, IRE1-mediated unfolded protein response, epithelial cell differentiation, protein catabolic process, central nervous system development, nervous system development, lysosome organization, lipid metabolic process, proteolysis, proteolysis, 891 1484 1559 2354 3639 3176 2764 2449 2445 ENSG00000166341 chr11 6621323 6655854 - DCHS1 protein_coding This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]. 8642 GO:0045177, GO:0016342, GO:0016021, GO:0016020, GO:0005912, apical part of cell, catenin complex, integral component of membrane, membrane, adherens junction, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0090102, GO:0072659, GO:0072137, GO:0048565, GO:0043931, GO:0036342, GO:0035329, GO:0034332, GO:0022008, GO:0021915, GO:0016339, GO:0016339, GO:0007389, GO:0007275, GO:0007157, GO:0007156, GO:0007043, GO:0003273, GO:0003192, GO:0001658, GO:0000902, cell-cell adhesion via plasma-membrane adhesion molecules, cochlea development, protein localization to plasma membrane, condensed mesenchymal cell proliferation, digestive tract development, ossification involved in bone maturation, post-anal tail morphogenesis, hippo signaling, adherens junction organization, neurogenesis, neural tube development, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, pattern specification process, multicellular organism development, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell migration involved in endocardial cushion formation, mitral valve formation, branching involved in ureteric bud morphogenesis, cell morphogenesis, 13 16 14 16 10 42 7 9 21 ENSG00000166342 chr18 72742314 72868146 - NETO1 protein_coding This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2017]. 81832 GO:0099061, GO:0098978, GO:0098839, GO:0060076, GO:0014069, GO:0005576, integral component of postsynaptic density membrane, glutamatergic synapse, postsynaptic density membrane, excitatory synapse, postsynaptic density, extracellular region, GO:0035255, ionotropic glutamate receptor binding, GO:2000463, GO:2000312, GO:0097120, GO:0048169, GO:0008542, GO:0007613, positive regulation of excitatory postsynaptic potential, regulation of kainate selective glutamate receptor activity, receptor localization to synapse, regulation of long-term neuronal synaptic plasticity, visual learning, memory, 0 0 1 0 0 0 1 3 0 ENSG00000166343 chr10 73423579 73433561 - MSS51 protein_coding 118490 GO:0046872, GO:0005515, metal ion binding, protein binding, 10 2 11 29 18 33 20 18 22 ENSG00000166347 chr18 74250847 74292016 - CYB5A protein_coding The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 1528 GO:0043231, GO:0043231, GO:0016021, GO:0016020, GO:0016020, GO:0016020, GO:0005829, GO:0005789, GO:0005741, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, integral component of membrane, membrane, membrane, membrane, cytosol, endoplasmic reticulum membrane, mitochondrial outer membrane, GO:0046872, GO:0020037, GO:0019899, GO:0009055, GO:0005515, GO:0004129, metal ion binding, heme binding, enzyme binding, electron transfer activity, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0046686, GO:0022900, GO:0019852, proton transmembrane transport, response to cadmium ion, electron transport chain, L-ascorbic acid metabolic process, 5 14 36 10 9 23 18 18 8 ENSG00000166348 chr10 73497538 73625953 - USP54 protein_coding 159195 GO:0005515, GO:0004843, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0016579, protein deubiquitination, 14 9 27 43 10 23 24 6 12 ENSG00000166349 chr11 36510709 36593156 + RAG1 protein_coding The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]. 5896 GO:1905347, GO:0097519, GO:0005654, GO:0005634, GO:0005634, endodeoxyribonuclease complex, DNA recombinase complex, nucleoplasm, nucleus, nucleus, GO:1990238, GO:0061630, GO:0046872, GO:0043565, GO:0043565, GO:0042803, GO:0042393, GO:0008270, GO:0005515, GO:0004842, GO:0004519, GO:0003677, double-stranded DNA endodeoxyribonuclease activity, ubiquitin protein ligase activity, metal ion binding, sequence-specific DNA binding, sequence-specific DNA binding, protein homodimerization activity, histone binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, endonuclease activity, DNA binding, GO:2000822, GO:0090305, GO:0070244, GO:0051865, GO:0048538, GO:0045582, GO:0043154, GO:0043029, GO:0033151, GO:0033151, GO:0033151, GO:0033077, GO:0030183, GO:0010390, GO:0010390, GO:0008542, GO:0006955, GO:0006310, GO:0002331, GO:0002331, GO:0002250, regulation of behavioral fear response, nucleic acid phosphodiester bond hydrolysis, negative regulation of thymocyte apoptotic process, protein autoubiquitination, thymus development, positive regulation of T cell differentiation, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, T cell homeostasis, V(D)J recombination, V(D)J recombination, V(D)J recombination, T cell differentiation in thymus, B cell differentiation, histone monoubiquitination, histone monoubiquitination, visual learning, immune response, DNA recombination, pre-B cell allelic exclusion, pre-B cell allelic exclusion, adaptive immune response, 2 5 7 5 3 8 2 0 2 ENSG00000166351 chr21 13609858 13641585 + POTED protein_coding 317754 GO:0005886, plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000166352 chr11 36594493 36659290 + C11orf74 protein_coding This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. 119710 GO:0097731, GO:0005829, 9+0 non-motile cilium, cytosol, GO:0120160, GO:0120160, GO:0005515, intraciliary transport particle A binding, intraciliary transport particle A binding, protein binding, GO:0007340, GO:0007283, acrosome reaction, spermatogenesis, 0 1 4 3 2 0 0 2 7 ENSG00000166359 chr19 33132090 33175795 + WDR88 protein_coding 126248 5 4 5 4 1 14 4 7 7 ENSG00000166363 chr11 6845652 6846705 + OR10A5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 144124 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000166368 chr11 6891490 6892599 - OR2D2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 120776 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000166377 chr18 79069285 79378287 + ATP9B protein_coding 374868 GO:0048471, GO:0016021, GO:0005886, GO:0005802, GO:0005802, GO:0005768, perinuclear region of cytoplasm, integral component of membrane, plasma membrane, trans-Golgi network, trans-Golgi network, endosome, GO:0140326, GO:0005524, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATP binding, magnesium ion binding, GO:0045332, GO:0045332, GO:0006897, GO:0006890, phospholipid translocation, phospholipid translocation, endocytosis, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 75 101 170 119 125 132 104 89 103 ENSG00000166387 chr11 7513298 7657127 + PPFIBP2 protein_coding This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 8495 GO:0048786, GO:0005829, GO:0005615, presynaptic active zone, cytosol, extracellular space, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:0050808, GO:0007528, synapse organization, neuromuscular junction development, 28 52 84 21 77 83 24 43 77 ENSG00000166391 chr11 75717819 75732958 + MOGAT2 protein_coding The protein encoded by this gene is an enzyme that catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. The encoded protein is important in the uptake of dietary fat by the small intestine. This protein forms a complex with diacylglycerol O-acyltransferase 2 in the endoplasmic reticulum, and this complex catalyzes the synthesis of triacylglycerol. [provided by RefSeq, Dec 2015]. 80168 GO:1990578, GO:0016021, GO:0005789, GO:0005783, perinuclear endoplasmic reticulum membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0016407, GO:0008374, GO:0003846, GO:0003846, acetyltransferase activity, O-acyltransferase activity, 2-acylglycerol O-acyltransferase activity, 2-acylglycerol O-acyltransferase activity, GO:0050892, GO:0019432, GO:0019432, GO:0006651, GO:0006640, GO:0006629, GO:0006071, intestinal absorption, triglyceride biosynthetic process, triglyceride biosynthetic process, diacylglycerol biosynthetic process, monoacylglycerol biosynthetic process, lipid metabolic process, glycerol metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000166394 chr11 7665100 7677222 - CYB5R2 protein_coding The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 51700 GO:0016020, GO:0005789, GO:0005634, membrane, endoplasmic reticulum membrane, nucleus, GO:0071949, GO:0005515, GO:0004128, FAD binding, protein binding, cytochrome-b5 reductase activity, acting on NAD(P)H, GO:0055114, GO:0016126, GO:0015701, oxidation-reduction process, sterol biosynthetic process, bicarbonate transport, 0 11 13 1 6 12 1 4 30 ENSG00000166396 chr18 63752935 63805376 + SERPINB7 protein_coding This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 8710 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0090362, GO:0072126, GO:0032967, GO:0032914, GO:0010951, positive regulation of platelet-derived growth factor production, positive regulation of glomerular mesangial cell proliferation, positive regulation of collagen biosynthetic process, positive regulation of transforming growth factor beta1 production, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000166398 chr19 34254537 34355586 + KIAA0355 protein_coding 9710 GO:0000932, P-body, GO:1905762, GO:1905762, GO:0031267, GO:0031267, GO:0005515, CCR4-NOT complex binding, CCR4-NOT complex binding, small GTPase binding, small GTPase binding, protein binding, GO:0016601, GO:0016601, Rac protein signal transduction, Rac protein signal transduction, 84 124 131 58 113 117 95 77 105 ENSG00000166401 chr18 63969925 64019779 + SERPINB8 protein_coding The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]. 5271 GO:0070062, GO:0062023, GO:0005829, GO:0005737, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, cytosol, cytoplasm, extracellular space, GO:0005515, GO:0004867, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0090136, GO:0010951, GO:0010951, epithelial cell-cell adhesion, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, 98 115 208 94 119 115 86 88 99 ENSG00000166402 chr11 8019244 8106112 + TUB protein_coding This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 7275 GO:0005929, GO:0005929, GO:0005886, GO:0005829, GO:0005737, GO:0005634, GO:0005576, cilium, cilium, plasma membrane, cytosol, cytoplasm, nucleus, extracellular region, GO:0120160, GO:0044877, GO:0001664, intraciliary transport particle A binding, protein-containing complex binding, G protein-coupled receptor binding, GO:1903546, GO:0097500, GO:0061512, GO:0060041, GO:0050766, GO:0045494, GO:0042073, GO:0009725, GO:0008277, GO:0007605, GO:0006910, protein localization to photoreceptor outer segment, receptor localization to non-motile cilium, protein localization to cilium, retina development in camera-type eye, positive regulation of phagocytosis, photoreceptor cell maintenance, intraciliary transport, response to hormone, regulation of G protein-coupled receptor signaling pathway, sensory perception of sound, phagocytosis, recognition, 5 5 12 21 8 4 7 4 5 ENSG00000166405 chr11 8106093 8169055 - RIC3 protein_coding This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 79608 GO:0045202, GO:0043231, GO:0043025, GO:0043005, GO:0016021, GO:0005789, GO:0000139, synapse, intracellular membrane-bounded organelle, neuronal cell body, neuron projection, integral component of membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0044183, GO:0033130, protein folding chaperone, acetylcholine receptor binding, GO:0034622, GO:0034394, GO:0007271, GO:0007204, GO:0006457, cellular protein-containing complex assembly, protein localization to cell surface, synaptic transmission, cholinergic, positive regulation of cytosolic calcium ion concentration, protein folding, 11 9 20 52 15 76 33 12 16 ENSG00000166407 chr11 8224304 8268716 - LMO1 protein_coding This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]. 4004 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:1902036, GO:0046013, GO:0045944, GO:0000122, regulation of hematopoietic stem cell differentiation, regulation of T cell homeostatic proliferation, positive regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000166408 chr11 7772890 7773814 - OR5P1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000166411 chr15 78131498 78171949 + IDH3A protein_coding Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]. 3419 GO:0005759, GO:0005739, GO:0005739, GO:0005634, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0051287, GO:0005515, GO:0004449, GO:0004449, GO:0000287, NAD binding, protein binding, isocitrate dehydrogenase (NAD+) activity, isocitrate dehydrogenase (NAD+) activity, magnesium ion binding, GO:0006102, GO:0006099, GO:0006099, GO:0005975, isocitrate metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, carbohydrate metabolic process, 30 18 54 88 39 71 52 30 35 ENSG00000166415 chr15 53513741 53762878 - WDR72 protein_coding This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. 256764 GO:0005768, GO:0005737, endosome, cytoplasm, GO:0072659, GO:0070166, GO:0022617, protein localization to plasma membrane, enamel mineralization, extracellular matrix disassembly, 0 0 0 0 0 0 0 0 0 ENSG00000166426 chr15 78340324 78348230 + CRABP1 protein_coding This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008]. 1381 GO:0005829, cytosol, GO:0019841, GO:0016918, GO:0005515, GO:0005501, GO:0001972, retinol binding, retinal binding, protein binding, retinoid binding, retinoic acid binding, GO:0034653, GO:0007275, GO:0007165, retinoic acid catabolic process, multicellular organism development, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000166428 chr14 104924713 104937790 + PLD4 protein_coding 122618 GO:0045335, GO:0045335, GO:0032588, GO:0032588, GO:0016021, GO:0005789, GO:0005789, GO:0005783, GO:0005769, GO:0005634, GO:0005634, phagocytic vesicle, phagocytic vesicle, trans-Golgi network membrane, trans-Golgi network membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, early endosome, nucleus, nucleus, GO:0045145, GO:0004630, single-stranded DNA 5'-3' exodeoxyribonuclease activity, phospholipase D activity, GO:1900015, GO:0090305, GO:0045087, GO:0043647, GO:0006954, GO:0006909, GO:0006909, GO:0006259, GO:0002244, regulation of cytokine production involved in inflammatory response, nucleic acid phosphodiester bond hydrolysis, innate immune response, inositol phosphate metabolic process, inflammatory response, phagocytosis, phagocytosis, DNA metabolic process, hematopoietic progenitor cell differentiation, 7 31 36 21 22 22 13 23 9 ENSG00000166432 chrX 101882288 101932031 - ZMAT1 protein_coding This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]. 84460 GO:0005634, nucleus, GO:0008270, GO:0003677, zinc ion binding, DNA binding, 154 182 284 278 280 406 294 185 251 ENSG00000166435 chr11 74807739 74949200 - XRRA1 protein_coding 143570 GO:0016604, GO:0005737, GO:0005654, GO:0005634, nuclear body, cytoplasm, nucleoplasm, nucleus, GO:0003674, molecular_function, GO:0010165, response to X-ray, 613 620 671 496 677 775 698 543 581 ENSG00000166436 chr11 8612037 8682694 - TRIM66 protein_coding 9866 GO:0016235, GO:0005654, GO:0000785, aggresome, nucleoplasm, chromatin, GO:0008270, zinc ion binding, 114 130 115 137 116 122 135 97 104 ENSG00000166439 chr11 74748868 74842413 + RNF169 protein_coding 254225 GO:0035861, GO:0016604, GO:0005829, GO:0005730, GO:0005654, GO:0005634, site of double-strand break, nuclear body, cytosol, nucleolus, nucleoplasm, nucleus, GO:0070530, GO:0046872, GO:0031491, GO:0016740, GO:0005515, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, nucleosome binding, transferase activity, protein binding, GO:2000780, GO:2000780, GO:0016567, GO:0006974, GO:0006974, negative regulation of double-strand break repair, negative regulation of double-strand break repair, protein ubiquitination, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, 1465 1574 1472 892 1527 1375 1369 1209 1259 ENSG00000166441 chr11 8682411 8714759 + RPL27A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008]. 6157 GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005829, GO:0005783, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, cytosol, endoplasmic reticulum, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1569 1206 1977 2981 1922 3117 1973 1470 2237 ENSG00000166444 chr11 8693351 8910951 - ST5 protein_coding This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]. 6764 GO:0055037, GO:0005938, GO:0005886, recycling endosome, cell cortex, plasma membrane, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0070374, positive regulation of ERK1 and ERK2 cascade, 6 6 10 24 5 9 9 1 8 ENSG00000166446 chr16 80597906 80804329 - CDYL2 protein_coding 124359 GO:0005634, nucleus, GO:0035064, GO:0005515, GO:0003824, GO:0003714, methylated histone binding, protein binding, catalytic activity, transcription corepressor activity, GO:1903507, negative regulation of nucleic acid-templated transcription, 39 56 54 48 34 38 63 22 50 ENSG00000166448 chr7 98846488 98870771 - TMEM130 protein_coding 222865 GO:0005887, GO:0005794, GO:0000139, integral component of plasma membrane, Golgi apparatus, Golgi membrane, GO:0005515, protein binding, 0 1 0 1 0 0 2 2 0 ENSG00000166450 chr15 55611546 55743090 - PRTG protein_coding This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD). [provided by RefSeq, Nov 2014]. 283659 GO:0016021, GO:0005886, GO:0005615, integral component of membrane, plasma membrane, extracellular space, GO:0042802, GO:0038023, identical protein binding, signaling receptor activity, GO:0050768, negative regulation of neurogenesis, 0 0 0 2 0 0 0 0 0 ENSG00000166451 chr16 81006498 81033114 + CENPN protein_coding The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 55839 GO:0005829, GO:0005654, GO:0005654, GO:0000777, cytosol, nucleoplasm, nucleoplasm, condensed chromosome kinetochore, GO:0051382, GO:0034080, GO:0007059, kinetochore assembly, CENP-A containing nucleosome assembly, chromosome segregation, 75 69 66 39 69 53 57 64 60 ENSG00000166452 chr11 8911139 8920084 + AKIP1 protein_coding This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]. 56672 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:1901222, GO:0034446, regulation of NIK/NF-kappaB signaling, substrate adhesion-dependent cell spreading, 3 0 1 8 4 12 9 3 12 ENSG00000166454 chr16 81035847 81047358 + ATMIN protein_coding 23300 GO:0016604, GO:0005634, nuclear body, nucleus, GO:0070840, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000976, GO:0000976, dynein complex binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1902857, GO:0045944, GO:0045893, GO:0044458, GO:0006974, GO:0006357, positive regulation of non-motile cilium assembly, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, motile cilium assembly, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, 111 92 140 125 140 132 68 88 73 ENSG00000166455 chr16 81053497 81077267 - C16orf46 protein_coding 123775 GO:0005829, GO:0005654, cytosol, nucleoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000166471 chr11 9280654 9314780 - TMEM41B protein_coding 440026 GO:0044233, GO:0016021, GO:0005789, GO:0005789, mitochondria-associated endoplasmic reticulum membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0007399, GO:0000045, nervous system development, autophagosome assembly, 348 330 747 241 417 441 287 259 383 ENSG00000166473 chr16 81100875 81220370 - PKD1L2 polymorphic_pseudogene This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, and the reference genome encodes a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2019]. 114780 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0030246, GO:0005509, GO:0005262, carbohydrate binding, calcium ion binding, calcium channel activity, GO:0070588, GO:0050982, calcium ion transmembrane transport, detection of mechanical stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000166477 chr15 51938025 51971806 - LEO1 protein_coding LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]. 123169 GO:0016593, GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0001650, Cdc73/Paf1 complex, centrosome, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:1990269, GO:0005515, RNA polymerase II C-terminal domain phosphoserine binding, protein binding, GO:1904837, GO:0045638, GO:0033523, GO:0032968, GO:0031442, GO:0019827, GO:0016567, GO:0016055, GO:0010390, GO:0006378, GO:0006368, GO:0006368, GO:0006366, GO:0001711, beta-catenin-TCF complex assembly, negative regulation of myeloid cell differentiation, histone H2B ubiquitination, positive regulation of transcription elongation from RNA polymerase II promoter, positive regulation of mRNA 3'-end processing, stem cell population maintenance, protein ubiquitination, Wnt signaling pathway, histone monoubiquitination, mRNA polyadenylation, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, endodermal cell fate commitment, 29 32 65 46 45 81 41 33 27 ENSG00000166478 chr11 9460319 9528524 + ZNF143 protein_coding 7702 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000978, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1905382, GO:0045945, GO:0045944, GO:0045944, GO:0042795, GO:0006359, GO:0006357, GO:0006355, positive regulation of snRNA transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase III, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, regulation of transcription by RNA polymerase III, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 633 532 737 303 445 345 333 403 331 ENSG00000166479 chr18 68673688 68715298 - TMX3 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]. 54495 GO:0031092, GO:0016021, GO:0009986, GO:0009986, GO:0005886, GO:0005789, GO:0005789, platelet alpha granule membrane, integral component of membrane, cell surface, cell surface, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0016972, GO:0016972, GO:0005515, GO:0003756, thiol oxidase activity, thiol oxidase activity, protein binding, protein disulfide isomerase activity, GO:0018171, GO:0018171, GO:0002576, peptidyl-cysteine oxidation, peptidyl-cysteine oxidation, platelet degranulation, 193 181 237 267 198 248 236 187 199 ENSG00000166482 chr17 19383442 19387240 - MFAP4 protein_coding This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 4239 GO:0071953, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0005615, GO:0005576, GO:0005576, GO:0005576, GO:0001527, GO:0001527, elastic fiber, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular space, extracellular region, extracellular region, extracellular region, microfibril, microfibril, GO:0097367, GO:0005515, GO:0005201, GO:0005102, GO:0003823, carbohydrate derivative binding, protein binding, extracellular matrix structural constituent, signaling receptor binding, antigen binding, GO:0097435, GO:0071493, GO:0048251, GO:0048251, GO:0010712, GO:0009650, GO:0007155, GO:0001867, supramolecular fiber organization, cellular response to UV-B, elastic fiber assembly, elastic fiber assembly, regulation of collagen metabolic process, UV protection, cell adhesion, complement activation, lectin pathway, 1 2 7 7 6 6 1 5 5 ENSG00000166483 chr11 9573681 9593457 + WEE1 protein_coding This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008]. 7465 GO:0005737, GO:0005730, GO:0005654, GO:0005634, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0016301, GO:0005524, GO:0005515, GO:0004715, GO:0004713, GO:0004672, GO:0000287, kinase activity, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, magnesium ion binding, GO:2000134, GO:0051301, GO:0048812, GO:0030010, GO:0018108, GO:0007093, GO:0000226, GO:0000086, negative regulation of G1/S transition of mitotic cell cycle, cell division, neuron projection morphogenesis, establishment of cell polarity, peptidyl-tyrosine phosphorylation, mitotic cell cycle checkpoint, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 22 16 53 11 14 51 30 6 20 ENSG00000166484 chr17 19377721 19383544 + MAPK7 protein_coding The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 5598 GO:0016605, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, PML body, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0051019, GO:0005524, GO:0005515, GO:0004707, mitogen-activated protein kinase binding, ATP binding, protein binding, MAP kinase activity, GO:2001240, GO:2000352, GO:1902176, GO:0071560, GO:0071499, GO:0071499, GO:0071363, GO:0070885, GO:0070301, GO:0060761, GO:0051344, GO:0051247, GO:0050728, GO:0045944, GO:0045765, GO:0036003, GO:0035556, GO:0034115, GO:0019933, GO:0018105, GO:0010468, GO:0007411, GO:0007165, GO:0007049, GO:0000165, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of endothelial cell apoptotic process, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, cellular response to transforming growth factor beta stimulus, cellular response to laminar fluid shear stress, cellular response to laminar fluid shear stress, cellular response to growth factor stimulus, negative regulation of calcineurin-NFAT signaling cascade, cellular response to hydrogen peroxide, negative regulation of response to cytokine stimulus, negative regulation of cyclic-nucleotide phosphodiesterase activity, positive regulation of protein metabolic process, negative regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, regulation of angiogenesis, positive regulation of transcription from RNA polymerase II promoter in response to stress, intracellular signal transduction, negative regulation of heterotypic cell-cell adhesion, cAMP-mediated signaling, peptidyl-serine phosphorylation, regulation of gene expression, axon guidance, signal transduction, cell cycle, MAPK cascade, 98 104 123 96 88 98 78 109 72 ENSG00000166492 chr11 3410352 3422496 - FAM86GP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000166501 chr16 23835946 24220611 + PRKCB protein_coding Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 5579 GO:0070062, GO:0044305, GO:0008091, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, calyx of Held, spectrin, plasma membrane, plasma membrane, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0050681, GO:0042393, GO:0035403, GO:0030374, GO:0008270, GO:0005524, GO:0005515, GO:0005246, GO:0005080, GO:0004698, GO:0004697, GO:0004674, GO:0004674, GO:0004674, GO:0003682, androgen receptor binding, histone binding, histone kinase activity (H3-T6 specific), nuclear receptor coactivator activity, zinc ion binding, ATP binding, protein binding, calcium channel regulator activity, protein kinase C binding, calcium-dependent protein kinase C activity, protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, chromatin binding, GO:2000300, GO:1903508, GO:0099171, GO:0071322, GO:0051092, GO:0050861, GO:0050853, GO:0046627, GO:0045766, GO:0045637, GO:0043123, GO:0042953, GO:0042113, GO:0035556, GO:0035408, GO:0030949, GO:0030168, GO:0018105, GO:0010829, GO:0010827, GO:0007165, GO:0007077, GO:0006915, GO:0006874, GO:0006816, GO:0006468, GO:0006357, GO:0002250, regulation of synaptic vesicle exocytosis, positive regulation of nucleic acid-templated transcription, presynaptic modulation of chemical synaptic transmission, cellular response to carbohydrate stimulus, positive regulation of NF-kappaB transcription factor activity, positive regulation of B cell receptor signaling pathway, B cell receptor signaling pathway, negative regulation of insulin receptor signaling pathway, positive regulation of angiogenesis, regulation of myeloid cell differentiation, positive regulation of I-kappaB kinase/NF-kappaB signaling, lipoprotein transport, B cell activation, intracellular signal transduction, histone H3-T6 phosphorylation, positive regulation of vascular endothelial growth factor receptor signaling pathway, platelet activation, peptidyl-serine phosphorylation, negative regulation of glucose transmembrane transport, regulation of glucose transmembrane transport, signal transduction, mitotic nuclear envelope disassembly, apoptotic process, cellular calcium ion homeostasis, calcium ion transport, protein phosphorylation, regulation of transcription by RNA polymerase II, adaptive immune response, 4573 4300 5272 2049 3245 3016 2436 2771 2644 ENSG00000166503 chr15 83112738 83208018 - HDGFL3 protein_coding 50810 GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0005576, cytosol, nucleoplasm, nucleus, nucleus, extracellular region, GO:0015631, GO:0008083, GO:0008017, GO:0003712, GO:0003690, tubulin binding, growth factor activity, microtubule binding, transcription coregulator activity, double-stranded DNA binding, GO:0046785, GO:0031175, GO:0007165, GO:0007026, GO:0006357, microtubule polymerization, neuron projection development, signal transduction, negative regulation of microtubule depolymerization, regulation of transcription by RNA polymerase II, 435 452 687 239 484 476 324 370 326 ENSG00000166507 chr10 73801911 73811798 - NDST2 protein_coding This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009]. 8509 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0019213, GO:0015016, deacetylase activity, [heparan sulfate]-glucosamine N-sulfotransferase activity, GO:0030210, GO:0015014, GO:0006024, heparin biosynthetic process, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, glycosaminoglycan biosynthetic process, 17 17 9 7 16 9 12 11 14 ENSG00000166508 chr7 100092728 100101940 - MCM7 protein_coding The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 4176 GO:0071162, GO:0042555, GO:0042555, GO:0042555, GO:0016020, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000781, CMG complex, MCM complex, MCM complex, MCM complex, membrane, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromosome, telomeric region, GO:1990518, GO:0005524, GO:0005515, GO:0003697, GO:0003688, GO:0003678, GO:0003677, single-stranded 3'-5' DNA helicase activity, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, DNA helicase activity, DNA binding, GO:0071466, GO:0071364, GO:0042493, GO:0042325, GO:0008283, GO:0006974, GO:0006271, GO:0006270, GO:0006268, GO:0006267, GO:0006260, GO:0000727, GO:0000082, cellular response to xenobiotic stimulus, cellular response to epidermal growth factor stimulus, response to drug, regulation of phosphorylation, cell population proliferation, cellular response to DNA damage stimulus, DNA strand elongation involved in DNA replication, DNA replication initiation, DNA unwinding involved in DNA replication, pre-replicative complex assembly involved in nuclear cell cycle DNA replication, DNA replication, double-strand break repair via break-induced replication, G1/S transition of mitotic cell cycle, 252 411 385 403 535 356 324 397 395 ENSG00000166509 chr16 78022515 78066761 + CLEC3A protein_coding 10143 GO:0005615, extracellular space, GO:0030246, carbohydrate binding, GO:0001503, GO:0001501, ossification, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000166510 chr18 54901509 54959508 - CCDC68 protein_coding 80323 GO:0120103, GO:0005814, GO:0005737, GO:0005622, centriolar subdistal appendage, centriole, cytoplasm, intracellular anatomical structure, GO:0005515, protein binding, GO:0035556, GO:0034454, GO:0034454, GO:0008104, intracellular signal transduction, microtubule anchoring at centrosome, microtubule anchoring at centrosome, protein localization, 0 0 0 1 0 0 0 0 0 ENSG00000166523 chr12 8533305 8540963 - CLEC4E protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. 26253 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0038187, GO:0030246, GO:0005515, GO:0005509, pattern recognition receptor activity, carbohydrate binding, protein binding, calcium ion binding, GO:0045087, GO:0042742, GO:0038094, GO:0002292, GO:0002223, GO:0002221, GO:0001819, innate immune response, defense response to bacterium, Fc-gamma receptor signaling pathway, T cell differentiation involved in immune response, stimulatory C-type lectin receptor signaling pathway, pattern recognition receptor signaling pathway, positive regulation of cytokine production, 1738 1530 2401 612 1746 1043 960 1513 1118 ENSG00000166526 chr7 100064033 100082548 - ZNF3 protein_coding 7551 GO:0000785, chromatin, GO:0042802, GO:0008270, GO:0005515, GO:0003677, GO:0001227, GO:0000981, GO:0000977, identical protein binding, zinc ion binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045321, GO:0030154, GO:0007275, GO:0006357, GO:0000122, leukocyte activation, cell differentiation, multicellular organism development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 249 267 258 346 387 508 301 278 260 ENSG00000166527 chr12 8509475 8522366 + CLEC4D protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. 338339 GO:0101003, GO:0070821, GO:0035579, GO:0016021, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, specific granule membrane, integral component of membrane, plasma membrane, GO:0046872, GO:0030246, GO:0005515, metal ion binding, carbohydrate binding, protein binding, GO:0045087, GO:0043312, GO:0030887, GO:0002250, GO:0002223, innate immune response, neutrophil degranulation, positive regulation of myeloid dendritic cell activation, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, 233 227 364 105 206 122 112 187 138 ENSG00000166529 chr7 100049774 100065038 + ZSCAN21 protein_coding 7589 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000978, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0006355, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 47 50 40 227 189 370 143 114 107 ENSG00000166530 chr4 110251871 110252099 - HSBP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000166532 chr12 8681600 8783095 + RIMKLB protein_coding 57494 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:0072591, GO:0072590, GO:0072590, GO:0046872, GO:0016879, GO:0005524, citrate-L-glutamate ligase activity, N-acetyl-L-aspartate-L-glutamate ligase activity, N-acetyl-L-aspartate-L-glutamate ligase activity, metal ion binding, ligase activity, forming carbon-nitrogen bonds, ATP binding, GO:0008652, GO:0006464, cellular amino acid biosynthetic process, cellular protein modification process, 39 54 49 63 55 66 64 34 46 ENSG00000166535 chr12 8822472 8887001 + A2ML1 protein_coding This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 144568 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0030414, GO:0004867, GO:0004866, GO:0002020, peptidase inhibitor activity, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, protease binding, GO:0052548, GO:0010951, regulation of endopeptidase activity, negative regulation of endopeptidase activity, 1 2 0 0 1 1 0 0 1 ENSG00000166546 chr16 66427297 66493529 + BEAN1 protein_coding The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 146227 GO:0016021, integral component of membrane, 43 43 200 39 39 190 45 41 197 ENSG00000166548 chr16 66508003 66552544 - TK2 protein_coding This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]. 7084 GO:0005759, GO:0005737, mitochondrial matrix, cytoplasm, GO:0019206, GO:0019136, GO:0005524, GO:0004797, GO:0004137, nucleoside kinase activity, deoxynucleoside kinase activity, ATP binding, thymidine kinase activity, deoxycytidine kinase activity, GO:0071897, GO:0046104, GO:0046092, GO:0043097, GO:0016310, GO:0009165, GO:0009157, GO:0006139, DNA biosynthetic process, thymidine metabolic process, deoxycytidine metabolic process, pyrimidine nucleoside salvage, phosphorylation, nucleotide biosynthetic process, deoxyribonucleoside monophosphate biosynthetic process, nucleobase-containing compound metabolic process, 151 151 531 95 143 478 98 127 384 ENSG00000166557 chr15 79311062 79427432 + TMED3 protein_coding 23423 GO:0033116, GO:0032580, GO:0030134, GO:0030133, GO:0030126, GO:0030126, GO:0016021, GO:0005794, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005783, GO:0005783, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, Golgi cisterna membrane, COPII-coated ER to Golgi transport vesicle, transport vesicle, COPI vesicle coat, COPI vesicle coat, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0007030, GO:0006890, GO:0006888, GO:0006888, GO:0006886, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 20 18 63 53 12 57 29 20 49 ENSG00000166558 chr16 84009667 84042636 - SLC38A8 protein_coding This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]. 146167 GO:0016021, integral component of membrane, GO:0015171, amino acid transmembrane transporter activity, GO:0006814, GO:0003333, sodium ion transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000166562 chr18 59139477 59158836 + SEC11C protein_coding 90701 GO:0016021, GO:0005789, GO:0005787, integral component of membrane, endoplasmic reticulum membrane, signal peptidase complex, GO:0008233, GO:0005515, GO:0004252, peptidase activity, protein binding, serine-type endopeptidase activity, GO:0006465, signal peptide processing, 29 39 65 75 41 87 66 47 53 ENSG00000166569 chr18 59275156 59318649 - CPLX4 protein_coding This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq, Jan 2009]. 339302 GO:0043195, GO:0031201, GO:0005886, terminal bouton, SNARE complex, plasma membrane, GO:0019905, GO:0005515, GO:0000149, syntaxin binding, protein binding, SNARE binding, GO:0050896, GO:0046928, GO:0016079, GO:0007601, response to stimulus, regulation of neurotransmitter secretion, synaptic vesicle exocytosis, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000166573 chr18 77250549 77277896 + GALR1 protein_coding The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008]. 2587 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0042923, GO:0017046, GO:0008528, GO:0005515, GO:0004966, neuropeptide binding, peptide hormone binding, G protein-coupled peptide receptor activity, protein binding, galanin receptor activity, GO:0051464, GO:0045944, GO:0007218, GO:0007204, GO:0007194, GO:0007189, GO:0007186, positive regulation of cortisol secretion, positive regulation of transcription by RNA polymerase II, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, negative regulation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000166575 chr11 87037844 87323758 + TMEM135 protein_coding 65084 GO:0031966, GO:0016021, GO:0005811, GO:0005778, GO:0005777, mitochondrial membrane, integral component of membrane, lipid droplet, peroxisomal membrane, peroxisome, GO:0090140, GO:0032094, GO:0009409, GO:0007031, regulation of mitochondrial fission, response to food, response to cold, peroxisome organization, 8 14 13 35 18 36 38 22 20 ENSG00000166578 chr12 113195441 113221094 - IQCD protein_coding 115811 GO:0036064, GO:0031514, GO:0005737, ciliary basal body, motile cilium, cytoplasm, 2 1 0 0 1 8 0 0 1 ENSG00000166579 chr17 8413131 8490411 + NDEL1 protein_coding This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]. 81565 GO:1904115, GO:0090724, GO:0060053, GO:0043203, GO:0031252, GO:0008021, GO:0005874, GO:0005871, GO:0005829, GO:0005819, GO:0005813, GO:0005635, GO:0000777, GO:0000776, GO:0000776, axon cytoplasm, central region of growth cone, neurofilament cytoskeleton, axon hillock, cell leading edge, synaptic vesicle, microtubule, kinesin complex, cytosol, spindle, centrosome, nuclear envelope, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0070012, GO:0048487, GO:0044877, GO:0043014, GO:0042802, GO:0008017, GO:0005515, oligopeptidase activity, beta-tubulin binding, protein-containing complex binding, alpha-tubulin binding, identical protein binding, microtubule binding, protein binding, GO:2000574, GO:1990138, GO:1900029, GO:0090630, GO:0060052, GO:0051642, GO:0051303, GO:0051081, GO:0048680, GO:0047496, GO:0045773, GO:0043547, GO:0033157, GO:0032418, GO:0021955, GO:0021799, GO:0016477, GO:0010975, GO:0008286, GO:0008090, GO:0007100, GO:0007059, GO:0007059, GO:0007020, GO:0006508, GO:0001833, GO:0001764, GO:0000132, regulation of microtubule motor activity, neuron projection extension, positive regulation of ruffle assembly, activation of GTPase activity, neurofilament cytoskeleton organization, centrosome localization, establishment of chromosome localization, nuclear envelope disassembly, positive regulation of axon regeneration, vesicle transport along microtubule, positive regulation of axon extension, positive regulation of GTPase activity, regulation of intracellular protein transport, lysosome localization, central nervous system neuron axonogenesis, cerebral cortex radially oriented cell migration, cell migration, regulation of neuron projection development, insulin receptor signaling pathway, retrograde axonal transport, mitotic centrosome separation, chromosome segregation, chromosome segregation, microtubule nucleation, proteolysis, inner cell mass cell proliferation, neuron migration, establishment of mitotic spindle orientation, 5670 6074 6373 3056 5522 4083 3962 4209 3748 ENSG00000166582 chr17 16342534 16353656 - CENPV protein_coding 201161 GO:0051233, GO:0051233, GO:0030496, GO:0015630, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000777, GO:0000776, GO:0000776, spindle midzone, spindle midzone, midbody, microtubule cytoskeleton, cytosol, nucleoplasm, nucleus, nucleus, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0046872, GO:0016846, GO:0005515, GO:0003674, metal ion binding, carbon-sulfur lyase activity, protein binding, molecular_function, GO:0051301, GO:0034508, GO:0033044, GO:0033044, GO:0032467, GO:0032467, GO:0031508, GO:0031508, GO:0007049, GO:0001667, cell division, centromere complex assembly, regulation of chromosome organization, regulation of chromosome organization, positive regulation of cytokinesis, positive regulation of cytokinesis, pericentric heterochromatin assembly, pericentric heterochromatin assembly, cell cycle, ameboidal-type cell migration, 15 9 27 20 12 33 14 2 17 ENSG00000166589 chr16 66908122 66918984 - CDH16 protein_coding This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]. 1014 GO:0070062, GO:0016323, GO:0005887, extracellular exosome, basolateral plasma membrane, integral component of plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0016339, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 1 0 0 0 0 0 0 ENSG00000166592 chr16 66921679 66925644 - RRAD protein_coding 6236 GO:0005886, plasma membrane, GO:0005525, GO:0005516, GO:0005515, GO:0005246, GO:0003924, GTP binding, calmodulin binding, protein binding, calcium channel regulator activity, GTPase activity, GO:1901842, GO:0007264, negative regulation of high voltage-gated calcium channel activity, small GTPase mediated signal transduction, 2 1 5 60 17 78 27 13 16 ENSG00000166595 chr16 66932055 66934423 - CIAO2B protein_coding 51647 GO:0097361, GO:0097361, GO:0071817, GO:0030496, GO:0005829, GO:0005819, GO:0005737, GO:0005654, GO:0005634, CIA complex, CIA complex, MMXD complex, midbody, cytosol, spindle, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0106035, GO:0097428, GO:0016226, GO:0016226, GO:0007059, protein maturation by [4Fe-4S] cluster transfer, protein maturation by iron-sulfur cluster transfer, iron-sulfur cluster assembly, iron-sulfur cluster assembly, chromosome segregation, 59 51 84 92 101 100 80 93 64 ENSG00000166596 chr17 9576627 9643459 + CFAP52 protein_coding WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]. 146845 GO:0031514, GO:0005737, motile cilium, cytoplasm, GO:0005515, protein binding, GO:0060271, cilium assembly, 0 0 0 0 0 0 0 0 2 ENSG00000166598 chr12 103930107 103953645 + HSP90B1 protein_coding This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]. 7184 GO:0071682, GO:0070062, GO:0062023, GO:0048471, GO:0048471, GO:0042470, GO:0034663, GO:0033018, GO:0032991, GO:0030496, GO:0016020, GO:0005925, GO:0005886, GO:0005829, GO:0005789, GO:0005788, GO:0005788, GO:0005783, GO:0005783, GO:0005783, GO:0005634, GO:0005576, endocytic vesicle lumen, extracellular exosome, collagen-containing extracellular matrix, perinuclear region of cytoplasm, perinuclear region of cytoplasm, melanosome, endoplasmic reticulum chaperone complex, sarcoplasmic reticulum lumen, protein-containing complex, midbody, membrane, focal adhesion, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, nucleus, extracellular region, GO:0051082, GO:0050750, GO:0019903, GO:0005524, GO:0005515, GO:0005509, GO:0003723, unfolded protein binding, low-density lipoprotein particle receptor binding, protein phosphatase binding, ATP binding, protein binding, calcium ion binding, RNA binding, GO:0071318, GO:0051208, GO:0044267, GO:0043687, GO:0043666, GO:0043066, GO:0043066, GO:0036500, GO:0034976, GO:0034975, GO:0031247, GO:0030970, GO:0030433, GO:0030433, GO:0019221, GO:0015031, GO:0006898, GO:0006457, GO:0002224, GO:0001666, cellular response to ATP, sequestering of calcium ion, cellular protein metabolic process, post-translational protein modification, regulation of phosphoprotein phosphatase activity, negative regulation of apoptotic process, negative regulation of apoptotic process, ATF6-mediated unfolded protein response, response to endoplasmic reticulum stress, protein folding in endoplasmic reticulum, actin rod assembly, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, cytokine-mediated signaling pathway, protein transport, receptor-mediated endocytosis, protein folding, toll-like receptor signaling pathway, response to hypoxia, 908 778 2279 1300 913 2258 1187 836 1819 ENSG00000166603 chr18 60371062 60372775 - MC4R protein_coding The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]. 4160 GO:0016021, GO:0005886, GO:0005886, GO:0005737, GO:0005634, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0042923, GO:0031625, GO:0017046, GO:0005515, GO:0004980, GO:0004980, GO:0004980, GO:0004977, GO:0004930, neuropeptide binding, ubiquitin protein ligase binding, peptide hormone binding, protein binding, melanocyte-stimulating hormone receptor activity, melanocyte-stimulating hormone receptor activity, melanocyte-stimulating hormone receptor activity, melanocortin receptor activity, G protein-coupled receptor activity, GO:2000821, GO:2000252, GO:0045780, GO:0032868, GO:0030073, GO:0019222, GO:0007631, GO:0007189, GO:0007189, GO:0007188, GO:0007186, GO:0006112, GO:0002024, regulation of grooming behavior, negative regulation of feeding behavior, positive regulation of bone resorption, response to insulin, insulin secretion, regulation of metabolic process, feeding behavior, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, energy reserve metabolic process, diet induced thermogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000166619 chr20 37492472 37527931 - BLCAP protein_coding This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]. 10904 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0030262, GO:0007049, apoptotic nuclear changes, cell cycle, 276 348 315 261 465 376 331 344 302 ENSG00000166634 chr18 63556160 63567011 + SERPINB12 protein_coding 89777 GO:0101003, GO:0062023, GO:0005886, GO:0005737, GO:0005615, ficolin-1-rich granule membrane, collagen-containing extracellular matrix, plasma membrane, cytoplasm, extracellular space, GO:0019899, GO:0004867, GO:0004867, enzyme binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0043312, GO:0042177, GO:0010951, GO:0002244, neutrophil degranulation, negative regulation of protein catabolic process, negative regulation of endopeptidase activity, hematopoietic progenitor cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000166664 chr15 30357766 30393849 - CHRFAM7A protein_coding The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]. 89832 GO:0045202, GO:0043005, GO:0005892, GO:0005887, synapse, neuron projection, acetylcholine-gated channel complex, integral component of plasma membrane, GO:0042166, GO:0030594, GO:0015464, GO:0005515, GO:0005230, acetylcholine binding, neurotransmitter receptor activity, acetylcholine receptor activity, protein binding, extracellular ligand-gated ion channel activity, GO:0050877, GO:0042391, GO:0034220, GO:0007271, GO:0007268, GO:0007165, nervous system process, regulation of membrane potential, ion transmembrane transport, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, 0 0 0 0 0 1 2 0 0 ENSG00000166669 chr16 10326434 10483638 + ATF7IP2 protein_coding 80063 GO:0005634, nucleus, 18 16 21 72 13 73 39 13 33 ENSG00000166670 chr11 102770503 102780628 - MMP10 protein_coding This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]. 4319 GO:0031012, GO:0005615, GO:0005576, extracellular matrix, extracellular space, extracellular region, GO:0008270, GO:0004222, GO:0004222, zinc ion binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:0030574, GO:0030574, GO:0030198, GO:0022617, GO:0006508, collagen catabolic process, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, proteolysis, 0 0 0 0 0 0 0 0 4 ENSG00000166676 chr16 10760919 10818794 - TVP23A protein_coding This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 780776 GO:0030173, integral component of Golgi membrane, GO:0005515, protein binding, GO:0016192, GO:0009306, vesicle-mediated transport, protein secretion, 24 25 21 53 44 62 36 37 22 ENSG00000166681 chrX 103376340 103378077 + BEX3 protein_coding 27018 GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005634, cytosol, cytosol, cytosol, cytoplasm, nucleus, GO:0046872, GO:0042802, GO:0008656, GO:0005515, GO:0005163, GO:0005102, metal ion binding, identical protein binding, cysteine-type endopeptidase activator activity involved in apoptotic process, protein binding, nerve growth factor receptor binding, signaling receptor binding, GO:0043281, GO:0043154, GO:0008625, GO:0007275, GO:0007165, GO:0006919, regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, extrinsic apoptotic signaling pathway via death domain receptors, multicellular organism development, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, 8 5 8 30 0 27 14 2 4 ENSG00000166682 chr11 113687546 113706373 - TMPRSS5 protein_coding This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 80975 GO:0043025, GO:0016021, GO:0005886, GO:0005886, neuronal cell body, integral component of membrane, plasma membrane, plasma membrane, GO:0008233, GO:0005044, GO:0004252, peptidase activity, scavenger receptor activity, serine-type endopeptidase activity, GO:0006897, GO:0006508, endocytosis, proteolysis, 2 3 4 4 2 0 0 3 0 ENSG00000166685 chr17 73192632 73208507 + COG1 protein_coding The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]. 9382 GO:0032588, GO:0017119, GO:0017119, GO:0005794, GO:0005794, GO:0000139, trans-Golgi network membrane, Golgi transport complex, Golgi transport complex, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0005515, protein binding, GO:0015031, GO:0007030, GO:0006891, GO:0006888, protein transport, Golgi organization, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 409 388 390 309 378 381 248 337 238 ENSG00000166689 chr11 16777317 17014443 - PLEKHA7 protein_coding 144100 GO:0070062, GO:0046930, GO:0046930, GO:0030054, GO:0005915, GO:0005915, GO:0005829, GO:0005813, GO:0005654, extracellular exosome, pore complex, pore complex, cell junction, zonula adherens, zonula adherens, cytosol, centrosome, nucleoplasm, GO:0070097, GO:0005515, delta-catenin binding, protein binding, GO:0090136, GO:0090136, GO:0046931, GO:0046931, GO:0045218, GO:0045218, GO:0044331, GO:0044331, epithelial cell-cell adhesion, epithelial cell-cell adhesion, pore complex assembly, pore complex assembly, zonula adherens maintenance, zonula adherens maintenance, cell-cell adhesion mediated by cadherin, cell-cell adhesion mediated by cadherin, 7 6 11 3 0 0 7 0 0 ENSG00000166693 chr11 56597426 56598362 - OR5M13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000166704 chr19 57977053 58003349 - ZNF606 protein_coding This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 80095 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 38 51 52 42 34 41 63 22 13 ENSG00000166707 chrX 104112131 104115846 + ZCCHC18 protein_coding 644353 GO:0005634, nucleus, GO:0046872, metal ion binding, GO:1903508, positive regulation of nucleic acid-templated transcription, 4 5 4 16 4 10 7 4 5 ENSG00000166710 chr15 44711487 44718877 + B2M protein_coding This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]. 567 GO:1990712, GO:1904724, GO:0070062, GO:0055038, GO:0042824, GO:0042612, GO:0042612, GO:0035580, GO:0031905, GO:0031901, GO:0030670, GO:0016020, GO:0012507, GO:0009897, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005788, GO:0005615, GO:0005576, GO:0000139, HFE-transferrin receptor complex, tertiary granule lumen, extracellular exosome, recycling endosome membrane, MHC class I peptide loading complex, MHC class I protein complex, MHC class I protein complex, specific granule lumen, early endosome lumen, early endosome membrane, phagocytic vesicle membrane, membrane, ER to Golgi transport vesicle membrane, external side of plasma membrane, focal adhesion, plasma membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, extracellular region, Golgi membrane, GO:0042803, GO:0042802, GO:0005515, protein homodimerization activity, identical protein binding, protein binding, GO:2000978, GO:2000774, GO:1990000, GO:1904437, GO:1904434, GO:1900122, GO:1900121, GO:0090647, GO:0071316, GO:0071283, GO:0071281, GO:0060333, GO:0055072, GO:0051289, GO:0050776, GO:0050768, GO:0050690, GO:0050680, GO:0048260, GO:0046686, GO:0045646, GO:0045087, GO:0044267, GO:0043312, GO:0042493, GO:0042026, GO:0034756, GO:0033077, GO:0032092, GO:0019885, GO:0010977, GO:0007611, GO:0007611, GO:0006826, GO:0002726, GO:0002481, GO:0002480, GO:0002479, GO:0002474, GO:0002237, GO:0001916, GO:0001895, negative regulation of forebrain neuron differentiation, positive regulation of cellular senescence, amyloid fibril formation, positive regulation of transferrin receptor binding, positive regulation of ferrous iron binding, positive regulation of receptor binding, negative regulation of receptor binding, modulation of age-related behavioral decline, cellular response to nicotine, cellular response to iron(III) ion, cellular response to iron ion, interferon-gamma-mediated signaling pathway, iron ion homeostasis, protein homotetramerization, regulation of immune response, negative regulation of neurogenesis, regulation of defense response to virus by virus, negative regulation of epithelial cell proliferation, positive regulation of receptor-mediated endocytosis, response to cadmium ion, regulation of erythrocyte differentiation, innate immune response, cellular protein metabolic process, neutrophil degranulation, response to drug, protein refolding, regulation of iron ion transport, T cell differentiation in thymus, positive regulation of protein binding, antigen processing and presentation of endogenous peptide antigen via MHC class I, negative regulation of neuron projection development, learning or memory, learning or memory, iron ion transport, positive regulation of T cell cytokine production, antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, response to molecule of bacterial origin, positive regulation of T cell mediated cytotoxicity, retina homeostasis, 44492 38447 48266 22817 43603 31757 26828 34969 28280 ENSG00000166716 chr15 84748635 84806432 + ZNF592 protein_coding This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]. 9640 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 1474 1722 1614 991 1804 1387 1063 1303 1110 ENSG00000166734 chr15 44288729 44415758 + CASC4 protein_coding The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]. 113201 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, 1589 1336 1707 375 559 538 551 645 552 ENSG00000166736 chr11 113974881 113990313 + HTR3A protein_coding The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 3359 GO:1904602, GO:0099056, GO:0045211, GO:0045202, GO:0043025, GO:0043005, GO:0032154, GO:0030424, GO:0005887, GO:0005886, GO:0005737, serotonin-activated cation-selective channel complex, integral component of presynaptic membrane, postsynaptic membrane, synapse, neuronal cell body, neuron projection, cleavage furrow, axon, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0051378, GO:0030594, GO:0022850, GO:0022850, GO:0005515, GO:0004888, serotonin binding, neurotransmitter receptor activity, serotonin-gated cation-selective channel activity, serotonin-gated cation-selective channel activity, protein binding, transmembrane signaling receptor activity, GO:0071363, GO:0050877, GO:0045471, GO:0042391, GO:0042220, GO:0034220, GO:0032414, GO:0007268, GO:0007268, GO:0007210, GO:0007165, cellular response to growth factor stimulus, nervous system process, response to ethanol, regulation of membrane potential, response to cocaine, ion transmembrane transport, positive regulation of ion transmembrane transporter activity, chemical synaptic transmission, chemical synaptic transmission, serotonin receptor signaling pathway, signal transduction, 1 0 0 0 0 0 0 0 0 ENSG00000166741 chr11 114257787 114313285 + NNMT protein_coding N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]. 4837 GO:0005829, GO:0005829, cytosol, cytosol, GO:0030760, GO:0008170, GO:0008112, GO:0008112, pyridine N-methyltransferase activity, N-methyltransferase activity, nicotinamide N-methyltransferase activity, nicotinamide N-methyltransferase activity, GO:0042493, GO:0034356, GO:0032259, GO:0031100, GO:0010243, response to drug, NAD biosynthesis via nicotinamide riboside salvage pathway, methylation, animal organ regeneration, response to organonitrogen compound, 0 0 0 0 0 0 0 0 0 ENSG00000166743 chr16 20623237 20698890 - ACSM1 protein_coding 116285 GO:0072562, GO:0070062, GO:0005759, GO:0005759, GO:0005759, blood microparticle, extracellular exosome, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, GO:0102391, GO:0047760, GO:0046872, GO:0018858, GO:0015645, GO:0005525, GO:0005524, GO:0005515, GO:0004321, GO:0003996, GO:0003996, decanoate-CoA ligase activity, butyrate-CoA ligase activity, metal ion binding, benzoate-CoA ligase activity, fatty acid ligase activity, GTP binding, ATP binding, protein binding, fatty-acyl-CoA synthase activity, acyl-CoA ligase activity, acyl-CoA ligase activity, GO:0042632, GO:0019605, GO:0019395, GO:0018874, GO:0015980, GO:0006805, GO:0006637, GO:0006633, cholesterol homeostasis, butyrate metabolic process, fatty acid oxidation, benzoate metabolic process, energy derivation by oxidation of organic compounds, xenobiotic metabolic process, acyl-CoA metabolic process, fatty acid biosynthetic process, 2 0 3 3 2 0 2 0 0 ENSG00000166747 chr16 71729000 71809201 - AP1G1 protein_coding Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 164 GO:0055037, GO:0043231, GO:0032588, GO:0030665, GO:0030659, GO:0030136, GO:0030121, GO:0016020, GO:0005829, GO:0005829, GO:0005794, GO:0005765, GO:0005737, GO:0000139, recycling endosome, intracellular membrane-bounded organelle, trans-Golgi network membrane, clathrin-coated vesicle membrane, cytoplasmic vesicle membrane, clathrin-coated vesicle, AP-1 adaptor complex, membrane, cytosol, cytosol, Golgi apparatus, lysosomal membrane, cytoplasm, Golgi membrane, GO:0140312, GO:0035615, GO:0031267, GO:0030742, GO:0019894, GO:0005515, cargo adaptor activity, clathrin adaptor activity, small GTPase binding, GTP-dependent protein binding, kinesin binding, protein binding, GO:0090160, GO:0050690, GO:0045954, GO:0043323, GO:0035646, GO:0032438, GO:0019886, GO:0006898, GO:0006896, GO:0006886, Golgi to lysosome transport, regulation of defense response to virus by virus, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of natural killer cell degranulation, endosome to melanosome transport, melanosome organization, antigen processing and presentation of exogenous peptide antigen via MHC class II, receptor-mediated endocytosis, Golgi to vacuole transport, intracellular protein transport, 4805 3992 7569 2266 2375 2961 2101 1509 1996 ENSG00000166750 chr17 35243036 35273655 + SLFN5 protein_coding 162394 GO:0005634, nucleus, GO:0005524, ATP binding, GO:0030154, cell differentiation, 193 126 383 631 211 774 567 168 605 ENSG00000166762 chr15 43628503 43668118 - CATSPER2 protein_coding This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]. 117155 GO:0036128, GO:0036128, GO:0031514, GO:0005886, CatSper complex, CatSper complex, motile cilium, plasma membrane, GO:0005515, GO:0005262, GO:0005244, GO:0005227, protein binding, calcium channel activity, voltage-gated ion channel activity, calcium activated cation channel activity, GO:0070588, GO:0048240, GO:0035036, GO:0034765, GO:0032570, GO:0030317, GO:0009566, GO:0007275, calcium ion transmembrane transport, sperm capacitation, sperm-egg recognition, regulation of ion transmembrane transport, response to progesterone, flagellated sperm motility, fertilization, multicellular organism development, 7 4 16 6 4 20 15 3 9 ENSG00000166763 chr15 43699488 43718184 - STRCP1 unprocessed_pseudogene 554225 GO:0060091, GO:0032426, GO:0009986, GO:0005576, kinocilium, stereocilium tip, cell surface, extracellular region, GO:0007160, cell-matrix adhesion, 1 1 0 2 0 0 2 1 0 ENSG00000166770 chr19 56477250 56500666 + ZNF667-AS1 lincRNA 2 0 1 1 3 0 0 0 3 ENSG00000166780 chr16 15434295 15625028 + C16orf45 protein_coding 89927 GO:0015630, microtubule cytoskeleton, GO:0005515, protein binding, GO:0021822, GO:0007026, negative regulation of cell motility involved in cerebral cortex radial glia guided migration, negative regulation of microtubule depolymerization, 0 6 2 2 2 12 0 1 0 ENSG00000166783 chr16 15594386 15643166 - MARF1 protein_coding This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]. 9665 GO:0043231, GO:0016020, GO:0005794, GO:0005777, GO:0005737, intracellular membrane-bounded organelle, membrane, Golgi apparatus, peroxisome, cytoplasm, GO:1905762, GO:1903231, GO:0005515, GO:0003674, CCR4-NOT complex binding, mRNA binding involved in posttranscriptional gene silencing, protein binding, molecular_function, GO:0048477, GO:0016441, GO:0010923, GO:0010468, GO:0007143, GO:0006302, oogenesis, posttranscriptional gene silencing, negative regulation of phosphatase activity, regulation of gene expression, female meiotic nuclear division, double-strand break repair, 45 64 53 29 58 286 165 55 60 ENSG00000166787 chr11 18112472 18116132 - SAA3P transcribed_unprocessed_pseudogene 6290 0 0 0 0 0 0 0 0 0 ENSG00000166788 chr11 18069935 18106091 - SAAL1 protein_coding 113174 GO:0005634, nucleus, GO:0003674, molecular_function, GO:1901647, positive regulation of synoviocyte proliferation, 3 7 11 22 6 12 15 3 5 ENSG00000166793 chr11 57645087 57649944 - YPEL4 protein_coding 219539 GO:0005730, nucleolus, GO:0046872, metal ion binding, 4 14 19 7 9 21 10 2 5 ENSG00000166794 chr15 64155812 64163205 - PPIB protein_coding The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]. 5479 GO:0070062, GO:0048471, GO:0043231, GO:0042470, GO:0034663, GO:0032991, GO:0016020, GO:0005925, GO:0005790, GO:0005788, GO:0005788, GO:0005783, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, melanosome, endoplasmic reticulum chaperone complex, protein-containing complex, membrane, focal adhesion, smooth endoplasmic reticulum, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, GO:0070063, GO:0051082, GO:0016018, GO:0016018, GO:0005518, GO:0005515, GO:0005515, GO:0003755, GO:0003755, GO:0003755, GO:0003755, GO:0003723, RNA polymerase binding, unfolded protein binding, cyclosporin A binding, cyclosporin A binding, collagen binding, protein binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, RNA binding, GO:1901873, GO:0061077, GO:0061077, GO:0060348, GO:0050821, GO:0044829, GO:0044794, GO:0040018, GO:0030593, GO:0006457, GO:0000413, GO:0000413, GO:0000413, regulation of post-translational protein modification, chaperone-mediated protein folding, chaperone-mediated protein folding, bone development, protein stabilization, positive regulation by host of viral genome replication, positive regulation by host of viral process, positive regulation of multicellular organism growth, neutrophil chemotaxis, protein folding, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, 659 611 679 455 572 642 421 537 576 ENSG00000166796 chr11 18412307 18452058 + LDHC protein_coding Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008]. 3948 GO:0070062, GO:0031514, GO:0005829, GO:0005634, extracellular exosome, motile cilium, cytosol, nucleus, GO:0004459, L-lactate dehydrogenase activity, GO:0030317, GO:0019516, GO:0019244, GO:0006754, GO:0006090, GO:0005975, flagellated sperm motility, lactate oxidation, lactate biosynthetic process from pyruvate, ATP biosynthetic process, pyruvate metabolic process, carbohydrate metabolic process, 0 0 0 0 0 0 0 1 0 ENSG00000166797 chr15 64072559 64094018 - CIAO2A protein_coding 84191 GO:0097361, GO:0005829, GO:0005654, CIA complex, cytosol, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0106035, GO:0097428, GO:0016226, GO:0007059, protein maturation by [4Fe-4S] cluster transfer, protein maturation by iron-sulfur cluster transfer, iron-sulfur cluster assembly, chromosome segregation, 230 207 206 89 220 108 103 202 108 ENSG00000166800 chr11 18455824 18479600 + LDHAL6A protein_coding 160287 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0004459, L-lactate dehydrogenase activity, GO:0055114, GO:0019752, GO:0005975, oxidation-reduction process, carboxylic acid metabolic process, carbohydrate metabolic process, 18 10 36 9 0 6 1 0 13 ENSG00000166801 chr11 59142748 59155039 + FAM111A protein_coding The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 63901 GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, chromatin, chromatin, GO:0005515, GO:0003697, protein binding, single-stranded DNA binding, GO:0106300, GO:0051607, GO:0045071, GO:0031297, GO:0016540, GO:0016032, GO:0006974, GO:0006508, GO:0006260, GO:0006260, protein-DNA covalent cross-linking repair, defense response to virus, negative regulation of viral genome replication, replication fork processing, protein autoprocessing, viral process, cellular response to DNA damage stimulus, proteolysis, DNA replication, DNA replication, 721 1013 1059 547 942 858 560 725 778 ENSG00000166803 chr15 64364311 64387687 - PCLAF protein_coding 9768 GO:0048471, GO:0005813, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, centrosome, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003682, GO:0003682, protein binding, chromatin binding, chromatin binding, GO:0051726, GO:0019985, GO:0019985, GO:0019985, GO:0009411, GO:0007098, GO:0006974, GO:0006260, regulation of cell cycle, translesion synthesis, translesion synthesis, translesion synthesis, response to UV, centrosome cycle, cellular response to DNA damage stimulus, DNA replication, 0 0 0 1 0 0 0 0 0 ENSG00000166813 chr15 89608789 89655451 - KIF7 protein_coding This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]. 374654 GO:0097542, GO:0036064, GO:0005929, GO:0005874, GO:0005871, GO:0005737, ciliary tip, ciliary basal body, cilium, microtubule, kinesin complex, cytoplasm, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003777, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, microtubule motor activity, GO:0045880, GO:0045879, GO:0007018, positive regulation of smoothened signaling pathway, negative regulation of smoothened signaling pathway, microtubule-based movement, 2 2 1 0 0 0 0 2 0 ENSG00000166816 chr16 75111860 75116771 - LDHD protein_coding The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 197257 GO:0005743, GO:0005739, GO:0005739, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0071949, GO:0050660, GO:0008720, GO:0005515, GO:0004458, FAD binding, flavin adenine dinucleotide binding, D-lactate dehydrogenase activity, protein binding, D-lactate dehydrogenase (cytochrome) activity, GO:1903457, GO:1903457, GO:0055114, lactate catabolic process, lactate catabolic process, oxidation-reduction process, 0 0 2 5 1 2 0 0 0 ENSG00000166819 chr15 89664365 89679427 - PLIN1 protein_coding The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]. 5346 GO:0005829, GO:0005811, GO:0005811, GO:0005783, cytosol, lipid droplet, lipid droplet, endoplasmic reticulum, GO:0008289, lipid binding, GO:0016042, GO:0006629, lipid catabolic process, lipid metabolic process, 0 0 1 0 0 0 0 1 0 ENSG00000166821 chr15 89677764 89690783 - PEX11A protein_coding This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]. 8800 GO:0032991, GO:0005779, GO:0005778, GO:0005778, GO:0005777, protein-containing complex, integral component of peroxisomal membrane, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0044375, GO:0044375, GO:0019216, GO:0016559, GO:0016559, GO:0016557, GO:0007165, GO:0007031, regulation of peroxisome size, regulation of peroxisome size, regulation of lipid metabolic process, peroxisome fission, peroxisome fission, peroxisome membrane biogenesis, signal transduction, peroxisome organization, 0 2 2 3 4 4 0 7 1 ENSG00000166822 chr16 75443054 75465497 - TMEM170A protein_coding 124491 GO:0016021, GO:0005789, GO:0005635, integral component of membrane, endoplasmic reticulum membrane, nuclear envelope, GO:0005515, protein binding, GO:0071786, GO:0051292, GO:0006998, endoplasmic reticulum tubular network organization, nuclear pore complex assembly, nuclear envelope organization, 576 584 671 362 428 509 349 290 293 ENSG00000166823 chr15 89748661 89751310 - MESP1 protein_coding 55897 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0046983, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000976, protein dimerization activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0090082, GO:0070368, GO:0060975, GO:0060947, GO:0060921, GO:0060913, GO:0055007, GO:0051155, GO:0048368, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045747, GO:0045446, GO:0042664, GO:0042662, GO:0035481, GO:0032525, GO:0023019, GO:0022008, GO:0010467, GO:0008078, GO:0007369, GO:0007219, GO:0006357, GO:0003259, GO:0003241, GO:0003236, GO:0003211, GO:0003210, GO:0003143, GO:0003139, GO:0003007, GO:0001947, GO:0001707, positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway, positive regulation of hepatocyte differentiation, cardioblast migration to the midline involved in heart field formation, cardiac vascular smooth muscle cell differentiation, sinoatrial node cell differentiation, cardiac cell fate determination, cardiac muscle cell differentiation, positive regulation of striated muscle cell differentiation, lateral mesoderm development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, endothelial cell differentiation, negative regulation of endodermal cell fate specification, negative regulation of mesodermal cell fate specification, positive regulation of Notch signaling pathway involved in heart induction, somite rostral/caudal axis specification, signal transduction involved in regulation of gene expression, neurogenesis, gene expression, mesodermal cell migration, gastrulation, Notch signaling pathway, regulation of transcription by RNA polymerase II, cardioblast anterior-lateral migration, growth involved in heart morphogenesis, sinus venosus morphogenesis, cardiac ventricle formation, cardiac atrium formation, embryonic heart tube morphogenesis, secondary heart field specification, heart morphogenesis, heart looping, mesoderm formation, 0 0 0 0 0 0 0 0 0 ENSG00000166825 chr15 89784889 89815401 - ANPEP protein_coding Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. This membrane-bound zinc metalloprotease is known to serve as a receptor for the HCoV-229E alphacoronavirus as well as other non-human coronaviruses. This gene has also been shown to promote angiogenesis, tumor growth, and metastasis and defects in this gene are associated with various types of leukemia and lymphoma. [provided by RefSeq, Apr 2020]. 290 GO:0070062, GO:0070062, GO:0030667, GO:0016021, GO:0009897, GO:0005886, GO:0005886, GO:0005886, GO:0005793, GO:0005765, GO:0005737, GO:0005615, GO:0005615, extracellular exosome, extracellular exosome, secretory granule membrane, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum-Golgi intermediate compartment, lysosomal membrane, cytoplasm, extracellular space, extracellular space, GO:0070006, GO:0042277, GO:0038023, GO:0008270, GO:0008237, GO:0004177, GO:0001618, metalloaminopeptidase activity, peptide binding, signaling receptor activity, zinc ion binding, metallopeptidase activity, aminopeptidase activity, virus receptor activity, GO:0046718, GO:0043312, GO:0043171, GO:0030154, GO:0008217, GO:0007165, GO:0006508, GO:0001525, viral entry into host cell, neutrophil degranulation, peptide catabolic process, cell differentiation, regulation of blood pressure, signal transduction, proteolysis, angiogenesis, 4810 5759 6210 2354 4545 2992 2987 3764 2750 ENSG00000166828 chr16 23182715 23216883 + SCNN1G protein_coding Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]. 6340 GO:0098797, GO:0070062, GO:0034706, GO:0034706, GO:0016324, GO:0009897, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005654, plasma membrane protein complex, extracellular exosome, sodium channel complex, sodium channel complex, apical plasma membrane, external side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0050699, GO:0015280, GO:0005515, GO:0005272, GO:0005216, WW domain binding, ligand-gated sodium channel activity, protein binding, sodium channel activity, ion channel activity, GO:0055078, GO:0050909, GO:0050896, GO:0050891, GO:0035725, GO:0035725, GO:0034220, GO:0007588, GO:0006814, sodium ion homeostasis, sensory perception of taste, response to stimulus, multicellular organismal water homeostasis, sodium ion transmembrane transport, sodium ion transmembrane transport, ion transmembrane transport, excretion, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000166831 chr15 64739892 64775587 - RBPMS2 protein_coding The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016]. 348093 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0042803, GO:0042802, GO:0005515, GO:0003729, GO:0003729, protein homodimerization activity, identical protein binding, protein binding, mRNA binding, mRNA binding, GO:0051151, GO:0051151, GO:0051151, GO:0048661, GO:0048557, GO:0030514, negative regulation of smooth muscle cell differentiation, negative regulation of smooth muscle cell differentiation, negative regulation of smooth muscle cell differentiation, positive regulation of smooth muscle cell proliferation, embryonic digestive tract morphogenesis, negative regulation of BMP signaling pathway, 0 0 3 0 0 3 0 1 0 ENSG00000166833 chr11 19350724 20121598 + NAV2 protein_coding This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 89797 GO:0005654, nucleoplasm, GO:0005524, GO:0005515, GO:0003678, ATP binding, protein binding, DNA helicase activity, GO:0032508, GO:0022008, GO:0007399, DNA duplex unwinding, neurogenesis, nervous system development, 1 2 2 3 0 4 2 0 0 ENSG00000166839 chr15 64911902 64958700 + ANKDD1A protein_coding 348094 GO:0007165, signal transduction, 283 342 340 544 776 689 622 461 408 ENSG00000166840 chr11 58905398 59043527 + GLYATL1 protein_coding 92292 GO:0005739, mitochondrion, GO:0047961, GO:0047946, GO:0047946, GO:0016410, glycine N-acyltransferase activity, glutamine N-acyltransferase activity, glutamine N-acyltransferase activity, N-acyltransferase activity, GO:0006541, GO:0006541, glutamine metabolic process, glutamine metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000166845 chr18 54357917 54385218 + C18orf54 protein_coding 162681 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0008285, negative regulation of cell population proliferation, 7 7 7 17 5 25 22 7 13 ENSG00000166847 chr16 23641392 23677455 + DCTN5 protein_coding This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 84516 GO:0031965, GO:0005829, GO:0005813, GO:0005654, GO:0000777, nuclear membrane, cytosol, centrosome, nucleoplasm, condensed chromosome kinetochore, GO:0005515, protein binding, GO:0060976, GO:0035904, GO:0019886, GO:0006888, GO:0003281, coronary vasculature development, aorta development, antigen processing and presentation of exogenous peptide antigen via MHC class II, endoplasmic reticulum to Golgi vesicle-mediated transport, ventricular septum development, 300 258 500 220 246 394 260 219 330 ENSG00000166848 chr16 75647786 75761872 + TERF2IP protein_coding The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]. 54386 GO:0070187, GO:0070187, GO:0030870, GO:0016604, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005635, GO:0005634, GO:0005634, GO:0000783, GO:0000781, GO:0000781, GO:0000781, GO:0000228, shelterin complex, shelterin complex, Mre11 complex, nuclear body, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nuclear envelope, nucleus, nucleus, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, chromosome, telomeric region, nuclear chromosome, GO:0098505, GO:0042162, GO:0042162, GO:0042162, GO:0019902, GO:0005515, G-rich strand telomeric DNA binding, telomeric DNA binding, telomeric DNA binding, telomeric DNA binding, phosphatase binding, protein binding, GO:1901985, GO:1901224, GO:0070198, GO:0051092, GO:0048239, GO:0043123, GO:0033138, GO:0032205, GO:0032204, GO:0031848, GO:0031848, GO:0016233, GO:0010833, GO:0010833, GO:0010569, GO:0007004, GO:0006355, GO:0006355, GO:0006355, GO:0001933, GO:0000723, positive regulation of protein acetylation, positive regulation of NIK/NF-kappaB signaling, protein localization to chromosome, telomeric region, positive regulation of NF-kappaB transcription factor activity, negative regulation of DNA recombination at telomere, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of peptidyl-serine phosphorylation, negative regulation of telomere maintenance, regulation of telomere maintenance, protection from non-homologous end joining at telomere, protection from non-homologous end joining at telomere, telomere capping, telomere maintenance via telomere lengthening, telomere maintenance via telomere lengthening, regulation of double-strand break repair via homologous recombination, telomere maintenance via telomerase, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of protein phosphorylation, telomere maintenance, 955 1042 1253 600 755 735 646 726 656 ENSG00000166851 chr16 23677656 23690367 + PLK1 protein_coding The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]. 5347 GO:0097431, GO:0051233, GO:0034451, GO:0030496, GO:0015630, GO:0005876, GO:0005829, GO:0005819, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000942, GO:0000922, GO:0000922, GO:0000795, GO:0000785, GO:0000776, mitotic spindle pole, spindle midzone, centriolar satellite, midbody, microtubule cytoskeleton, spindle microtubule, cytosol, spindle, centriole, centrosome, centrosome, cytoplasm, nucleoplasm, nucleus, nucleus, condensed nuclear chromosome outer kinetochore, spindle pole, spindle pole, synaptonemal complex, chromatin, kinetochore, GO:0042802, GO:0019901, GO:0016301, GO:0010997, GO:0008017, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0004672, GO:0000287, identical protein binding, protein kinase binding, kinase activity, anaphase-promoting complex binding, microtubule binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, magnesium ion binding, GO:1904776, GO:1904668, GO:1904668, GO:1902749, GO:1901990, GO:1901673, GO:1900182, GO:0097711, GO:0090435, GO:0072425, GO:0071168, GO:0070194, GO:0051726, GO:0051443, GO:0051081, GO:0045862, GO:0045736, GO:0045184, GO:0045143, GO:0043393, GO:0043066, GO:0032465, GO:0032465, GO:0032465, GO:0032436, GO:0031648, GO:0031145, GO:0030071, GO:0030071, GO:0018105, GO:0016567, GO:0016321, GO:0010800, GO:0010389, GO:0007346, GO:0007098, GO:0007094, GO:0007077, GO:0007062, GO:0006511, GO:0006468, GO:0006468, GO:0001578, GO:0000281, GO:0000278, GO:0000278, GO:0000278, GO:0000132, GO:0000122, GO:0000086, GO:0000086, GO:0000070, regulation of protein localization to cell cortex, positive regulation of ubiquitin protein ligase activity, positive regulation of ubiquitin protein ligase activity, regulation of cell cycle G2/M phase transition, regulation of mitotic cell cycle phase transition, regulation of mitotic spindle assembly, positive regulation of protein localization to nucleus, ciliary basal body-plasma membrane docking, protein localization to nuclear envelope, signal transduction involved in G2 DNA damage checkpoint, protein localization to chromatin, synaptonemal complex disassembly, regulation of cell cycle, positive regulation of ubiquitin-protein transferase activity, nuclear envelope disassembly, positive regulation of proteolysis, negative regulation of cyclin-dependent protein serine/threonine kinase activity, establishment of protein localization, homologous chromosome segregation, regulation of protein binding, negative regulation of apoptotic process, regulation of cytokinesis, regulation of cytokinesis, regulation of cytokinesis, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein destabilization, anaphase-promoting complex-dependent catabolic process, regulation of mitotic metaphase/anaphase transition, regulation of mitotic metaphase/anaphase transition, peptidyl-serine phosphorylation, protein ubiquitination, female meiosis chromosome segregation, positive regulation of peptidyl-threonine phosphorylation, regulation of G2/M transition of mitotic cell cycle, regulation of mitotic cell cycle, centrosome cycle, mitotic spindle assembly checkpoint, mitotic nuclear envelope disassembly, sister chromatid cohesion, ubiquitin-dependent protein catabolic process, protein phosphorylation, protein phosphorylation, microtubule bundle formation, mitotic cytokinesis, mitotic cell cycle, mitotic cell cycle, mitotic cell cycle, establishment of mitotic spindle orientation, negative regulation of transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, mitotic sister chromatid segregation, 4 7 13 3 6 10 14 4 22 ENSG00000166855 chr15 65148219 65185342 - CLPX protein_coding The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]. 10845 GO:0042645, GO:0009841, GO:0009368, GO:0005829, GO:0005759, GO:0005759, GO:0005743, GO:0005739, GO:0005654, mitochondrial nucleoid, mitochondrial endopeptidase Clp complex, endopeptidase Clp complex, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0051082, GO:0046983, GO:0016887, GO:0016887, GO:0016887, GO:0016504, GO:0008270, GO:0005524, GO:0005524, GO:0005515, GO:0004176, unfolded protein binding, protein dimerization activity, ATPase activity, ATPase activity, ATPase activity, peptidase activator activity, zinc ion binding, ATP binding, ATP binding, protein binding, ATP-dependent peptidase activity, GO:0051603, GO:0046034, GO:0030163, GO:0010952, GO:0006508, GO:0006457, proteolysis involved in cellular protein catabolic process, ATP metabolic process, protein catabolic process, positive regulation of peptidase activity, proteolysis, protein folding, 172 134 175 114 129 179 98 122 105 ENSG00000166856 chr12 56994446 56998441 + GPR182 protein_coding Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008]. 11318 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, GO:0004888, G protein-coupled receptor activity, transmembrane signaling receptor activity, GO:0007186, GO:0007166, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000166860 chr12 56998834 57006446 - ZBTB39 protein_coding 9880 GO:0005654, nucleoplasm, GO:0046872, GO:0005515, GO:0001227, GO:0000978, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 9 9 23 22 4 35 30 13 26 ENSG00000166862 chr22 36563921 36703558 - CACNG2 protein_coding The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]. 10369 GO:0099061, GO:0098978, GO:0098839, GO:0098685, GO:0044300, GO:0036477, GO:0032281, GO:0032281, GO:0030666, GO:0009986, GO:0005891, GO:0005886, GO:0005829, integral component of postsynaptic density membrane, glutamatergic synapse, postsynaptic density membrane, Schaffer collateral - CA1 synapse, cerebellar mossy fiber, somatodendritic compartment, AMPA glutamate receptor complex, AMPA glutamate receptor complex, endocytic vesicle membrane, cell surface, voltage-gated calcium channel complex, plasma membrane, cytosol, GO:0035255, GO:0016247, GO:0005515, GO:0005245, ionotropic glutamate receptor binding, channel regulator activity, protein binding, voltage-gated calcium channel activity, GO:2000969, GO:2000311, GO:2000311, GO:1904510, GO:0099590, GO:0098970, GO:0098943, GO:0070588, GO:0061337, GO:0060082, GO:0060081, GO:0051968, GO:0051899, GO:0051592, GO:0019226, GO:0007528, GO:0006612, positive regulation of AMPA receptor activity, regulation of AMPA receptor activity, regulation of AMPA receptor activity, positive regulation of protein localization to basolateral plasma membrane, neurotransmitter receptor internalization, postsynaptic neurotransmitter receptor diffusion trapping, neurotransmitter receptor transport, postsynaptic endosome to lysosome, calcium ion transmembrane transport, cardiac conduction, eye blink reflex, membrane hyperpolarization, positive regulation of synaptic transmission, glutamatergic, membrane depolarization, response to calcium ion, transmission of nerve impulse, neuromuscular junction development, protein targeting to membrane, 0 0 0 0 0 0 0 0 0 ENSG00000166863 chr12 57010000 57028883 - TAC3 protein_coding This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 6866 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0045777, GO:0007565, GO:0007218, GO:0007217, GO:0007186, positive regulation of blood pressure, female pregnancy, neuropeptide signaling pathway, tachykinin receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000166866 chr12 57028517 57051198 - MYO1A protein_coding This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]. 4640 GO:0044853, GO:0031982, GO:0031941, GO:0030864, GO:0016459, GO:0016328, GO:0016324, GO:0016323, GO:0015629, GO:0009925, GO:0005903, GO:0005903, GO:0005902, GO:0005902, GO:0005886, GO:0005737, GO:0005737, plasma membrane raft, vesicle, filamentous actin, cortical actin cytoskeleton, myosin complex, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, actin cytoskeleton, basal plasma membrane, brush border, brush border, microvillus, microvillus, plasma membrane, cytoplasm, cytoplasm, GO:0051015, GO:0030898, GO:0005524, GO:0005516, GO:0000146, actin filament binding, actin-dependent ATPase activity, ATP binding, calmodulin binding, microfilament motor activity, GO:0051648, GO:0030050, GO:0030033, GO:0007605, GO:0007605, GO:0007015, vesicle localization, vesicle transport along actin filament, microvillus assembly, sensory perception of sound, sensory perception of sound, actin filament organization, 3 0 5 0 1 8 0 1 3 ENSG00000166869 chr16 23754627 23758951 + CHP2 protein_coding This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]. 63928 GO:0005886, GO:0005737, GO:0005634, plasma membrane, cytoplasm, nucleus, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0071277, GO:0070886, GO:0045944, GO:0042307, GO:0015031, GO:0010922, GO:0008284, cellular response to calcium ion, positive regulation of calcineurin-NFAT signaling cascade, positive regulation of transcription by RNA polymerase II, positive regulation of protein import into nucleus, protein transport, positive regulation of phosphatase activity, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000166881 chr12 57055643 57088063 - NEMP1 protein_coding 23306 GO:0016021, GO:0005637, GO:0005635, GO:0005635, integral component of membrane, nuclear inner membrane, nuclear envelope, nuclear envelope, GO:0003674, molecular_function, GO:0071763, GO:0008150, nuclear membrane organization, biological_process, 100 103 196 328 164 290 200 121 225 ENSG00000166884 chr11 59456938 59457991 + OR4D6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219983 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000166886 chr12 57088894 57095476 + NAB2 protein_coding This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 4665 GO:0005634, nucleus, GO:0042802, GO:0008134, GO:0005515, GO:0003714, GO:0003712, identical protein binding, transcription factor binding, protein binding, transcription corepressor activity, transcription coregulator activity, GO:1902949, GO:0045682, GO:0042552, GO:0016480, GO:0014037, GO:0006355, GO:0001958, positive regulation of tau-protein kinase activity, regulation of epidermis development, myelination, negative regulation of transcription by RNA polymerase III, Schwann cell differentiation, regulation of transcription, DNA-templated, endochondral ossification, 75 134 129 89 129 120 149 122 71 ENSG00000166887 chr15 42158701 42208316 - VPS39 protein_coding This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 23339 GO:0031902, GO:0030897, GO:0030123, GO:0016020, GO:0005765, GO:0005765, GO:0005737, late endosome membrane, HOPS complex, AP-3 adaptor complex, membrane, lysosomal membrane, lysosomal membrane, cytoplasm, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:1990126, GO:1902774, GO:0034058, GO:0034058, GO:0008333, GO:0006914, GO:0006914, GO:0006886, retrograde transport, endosome to plasma membrane, late endosome to lysosome transport, endosomal vesicle fusion, endosomal vesicle fusion, endosome to lysosome transport, autophagy, autophagy, intracellular protein transport, 1114 1185 1257 1099 1396 1388 1098 1008 998 ENSG00000166888 chr12 57095408 57132139 - STAT6 protein_coding The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 6778 GO:0045121, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0000785, GO:0000785, membrane raft, cytosol, cytosol, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:0042802, GO:0019903, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, identical protein binding, protein phosphatase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1902170, GO:0120162, GO:0070301, GO:0060443, GO:0060397, GO:0048295, GO:0045944, GO:0043434, GO:0042127, GO:0035771, GO:0033598, GO:0032481, GO:0019221, GO:0019221, GO:0007259, GO:0007165, GO:0006952, GO:0006357, GO:0006357, GO:0002829, GO:0002296, GO:0000122, cellular response to reactive nitrogen species, positive regulation of cold-induced thermogenesis, cellular response to hydrogen peroxide, mammary gland morphogenesis, growth hormone receptor signaling pathway via JAK-STAT, positive regulation of isotype switching to IgE isotypes, positive regulation of transcription by RNA polymerase II, response to peptide hormone, regulation of cell population proliferation, interleukin-4-mediated signaling pathway, mammary gland epithelial cell proliferation, positive regulation of type I interferon production, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, receptor signaling pathway via JAK-STAT, signal transduction, defense response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of type 2 immune response, T-helper 1 cell lineage commitment, negative regulation of transcription by RNA polymerase II, 10321 11247 13203 8279 11066 10500 9142 7837 8770 ENSG00000166889 chr11 59636716 59668980 - PATL1 protein_coding 219988 GO:0036464, GO:0030014, GO:0016607, GO:0016605, GO:0005829, GO:0000932, GO:0000932, cytoplasmic ribonucleoprotein granule, CCR4-NOT complex, nuclear speck, PML body, cytosol, P-body, P-body, GO:0034046, GO:0008266, GO:0005515, GO:0003723, GO:0003723, GO:0003723, poly(G) binding, poly(U) RNA binding, protein binding, RNA binding, RNA binding, RNA binding, GO:0043928, GO:0033962, GO:0033962, GO:0000290, GO:0000290, exonucleolytic catabolism of deadenylated mRNA, P-body assembly, P-body assembly, deadenylation-dependent decapping of nuclear-transcribed mRNA, deadenylation-dependent decapping of nuclear-transcribed mRNA, 1583 1587 2297 1944 1795 2102 1945 1503 1432 ENSG00000166896 chr12 57906039 57959148 + ATP23 protein_coding The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 91419 GO:0043231, GO:0031314, GO:0030054, GO:0005958, GO:0005886, GO:0005829, intracellular membrane-bounded organelle, extrinsic component of mitochondrial inner membrane, cell junction, DNA-dependent protein kinase-DNA ligase 4 complex, plasma membrane, cytosol, GO:0046872, GO:0005515, GO:0004677, GO:0004222, metal ion binding, protein binding, DNA-dependent protein kinase activity, metalloendopeptidase activity, GO:0034982, GO:0033615, GO:0006468, GO:0006303, mitochondrial protein processing, mitochondrial proton-transporting ATP synthase complex assembly, protein phosphorylation, double-strand break repair via nonhomologous end joining, 0 0 0 0 0 0 0 0 0 ENSG00000166897 chr22 37367960 37427470 - ELFN2 protein_coding 114794 GO:0031012, GO:0016021, GO:0005615, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, extracellular space, GO:0004864, protein phosphatase inhibitor activity, GO:0032515, GO:0010923, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, 8 2 4 3 10 0 6 6 13 ENSG00000166900 chr11 59713456 59805882 + STX3 protein_coding The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 6809 GO:0098978, GO:0098794, GO:0070062, GO:0048787, GO:0043005, GO:0042589, GO:0042582, GO:0042581, GO:0042470, GO:0031201, GO:0031201, GO:0030426, GO:0030425, GO:0030027, GO:0016324, GO:0016021, GO:0012505, GO:0008021, GO:0005911, GO:0005886, GO:0005886, GO:0005886, GO:0005773, glutamatergic synapse, postsynapse, extracellular exosome, presynaptic active zone membrane, neuron projection, zymogen granule membrane, azurophil granule, specific granule, melanosome, SNARE complex, SNARE complex, growth cone, dendrite, lamellipodium, apical plasma membrane, integral component of membrane, endomembrane system, synaptic vesicle, cell-cell junction, plasma membrane, plasma membrane, plasma membrane, vacuole, GO:0050544, GO:0005515, GO:0005484, GO:0000149, arachidonic acid binding, protein binding, SNAP receptor activity, SNARE binding, GO:2000010, GO:1903078, GO:0098967, GO:0060291, GO:0050921, GO:0048278, GO:0045785, GO:0031629, GO:0031175, GO:0019221, GO:0016081, GO:0008284, GO:0006906, GO:0006887, GO:0006886, positive regulation of protein localization to cell surface, positive regulation of protein localization to plasma membrane, exocytic insertion of neurotransmitter receptor to postsynaptic membrane, long-term synaptic potentiation, positive regulation of chemotaxis, vesicle docking, positive regulation of cell adhesion, synaptic vesicle fusion to presynaptic active zone membrane, neuron projection development, cytokine-mediated signaling pathway, synaptic vesicle docking, positive regulation of cell population proliferation, vesicle fusion, exocytosis, intracellular protein transport, 6354 5936 8179 3826 5761 4958 4097 4302 3968 ENSG00000166902 chr11 59806135 59810872 - MRPL16 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 54948 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0019843, GO:0003735, rRNA binding, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, 46 93 128 55 79 105 42 76 51 ENSG00000166908 chr12 57591174 57603418 + PIP4K2C protein_coding 79837 GO:0070062, GO:0043229, GO:0016020, GO:0005829, GO:0005776, extracellular exosome, intracellular organelle, membrane, cytosol, autophagosome, GO:0042802, GO:0016309, GO:0016308, GO:0005524, identical protein binding, 1-phosphatidylinositol-5-phosphate 4-kinase activity, 1-phosphatidylinositol-4-phosphate 5-kinase activity, ATP binding, GO:2000786, GO:1902635, GO:0046854, GO:0014066, GO:0010506, GO:0006661, positive regulation of autophagosome assembly, 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process, phosphatidylinositol phosphorylation, regulation of phosphatidylinositol 3-kinase signaling, regulation of autophagy, phosphatidylinositol biosynthetic process, 260 264 340 347 359 397 405 271 282 ENSG00000166912 chr15 30938941 30991607 - MTMR10 protein_coding 54893 GO:0016020, GO:0005829, GO:0005737, GO:0005737, membrane, cytosol, cytoplasm, cytoplasm, GO:0004438, phosphatidylinositol-3-phosphatase activity, GO:0046856, phosphatidylinositol dephosphorylation, 278 258 199 370 527 510 385 303 270 ENSG00000166913 chr20 44885676 44908532 + YWHAB protein_coding This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]. 7529 GO:0070062, GO:0048471, GO:0042470, GO:0017053, GO:0016020, GO:0005925, GO:0005829, GO:0005829, GO:0005774, GO:0005739, GO:0005737, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, melanosome, transcription repressor complex, membrane, focal adhesion, cytosol, cytosol, vacuolar membrane, mitochondrion, cytoplasm, nucleus, GO:0051219, GO:0050815, GO:0045296, GO:0044877, GO:0042826, GO:0042802, GO:0019904, GO:0019899, GO:0008022, GO:0005515, GO:0004860, phosphoprotein binding, phosphoserine residue binding, cadherin binding, protein-containing complex binding, histone deacetylase binding, identical protein binding, protein domain specific binding, enzyme binding, protein C-terminus binding, protein binding, protein kinase inhibitor activity, GO:1900740, GO:0061024, GO:0051220, GO:0045892, GO:0045744, GO:0043488, GO:0043085, GO:0035329, GO:0035308, GO:0016032, GO:0006605, GO:0006469, GO:0000165, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, membrane organization, cytoplasmic sequestering of protein, negative regulation of transcription, DNA-templated, negative regulation of G protein-coupled receptor signaling pathway, regulation of mRNA stability, positive regulation of catalytic activity, hippo signaling, negative regulation of protein dephosphorylation, viral process, protein targeting, negative regulation of protein kinase activity, MAPK cascade, 3396 3237 4477 1431 2031 2032 1694 1908 1811 ENSG00000166917 chr10 133246478 133247891 - MIR202HG antisense 101927671 0 0 0 0 2 0 0 0 0 ENSG00000166920 chr15 45430529 45448761 + C15orf48 protein_coding This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]. 84419 GO:0005751, GO:0005634, mitochondrial respiratory chain complex IV, nucleus, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0022900, GO:0009617, proton transmembrane transport, electron transport chain, response to bacterium, 19 24 65 170 188 566 443 470 628 ENSG00000166922 chr15 32641676 32697098 + SCG5 protein_coding This gene encodes a secreted chaperone protein that prevents the aggregation of other secreted proteins, including proteins that are associated with neurodegenerative and metabolic disease. The encoded protein may be best known for its role in the trafficking and activation of prohormone convertase PC2 (encoded by Gene ID: 5126). Phosphorylation of the encoded protein has been shown to have an inhibitory effect on its chaperone function. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]. 6447 GO:0030141, GO:0005634, GO:0005576, secretory granule, nucleus, extracellular region, GO:0051082, GO:0030234, GO:0005525, GO:0005515, GO:0004857, unfolded protein binding, enzyme regulator activity, GTP binding, protein binding, enzyme inhibitor activity, GO:0046883, GO:0046883, GO:0043086, GO:0016486, GO:0007218, GO:0006886, regulation of hormone secretion, regulation of hormone secretion, negative regulation of catalytic activity, peptide hormone processing, neuropeptide signaling pathway, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000166923 chr15 32717974 32745107 + GREM1 protein_coding This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 26585 GO:0062023, GO:0062023, GO:0009986, GO:0005615, GO:0005615, collagen-containing extracellular matrix, collagen-containing extracellular matrix, cell surface, extracellular space, extracellular space, GO:0048018, GO:0048018, GO:0043184, GO:0042803, GO:0036122, GO:0036122, GO:0036122, GO:0030297, GO:0016015, GO:0005515, GO:0005125, receptor ligand activity, receptor ligand activity, vascular endothelial growth factor receptor 2 binding, protein homodimerization activity, BMP binding, BMP binding, BMP binding, transmembrane receptor protein tyrosine kinase activator activity, morphogen activity, protein binding, cytokine activity, GO:2000727, GO:2000273, GO:1901224, GO:1900158, GO:1900155, GO:1900086, GO:0090291, GO:0090190, GO:0090090, GO:0090027, GO:0072331, GO:0061098, GO:0060676, GO:0060394, GO:0060173, GO:0051973, GO:0051893, GO:0051092, GO:0048263, GO:0046851, GO:0045944, GO:0045892, GO:0045766, GO:0045668, GO:0045668, GO:0043066, GO:0038098, GO:0033689, GO:0032872, GO:0032331, GO:0030514, GO:0030514, GO:0030502, GO:0030326, GO:0030308, GO:0030199, GO:0010717, GO:0009954, GO:0009887, GO:0008284, GO:0007267, GO:0007171, GO:0007165, GO:0006915, GO:0003337, GO:0003257, GO:0002092, GO:0002042, GO:0000902, positive regulation of cardiac muscle cell differentiation, positive regulation of signaling receptor activity, positive regulation of NIK/NF-kappaB signaling, negative regulation of bone mineralization involved in bone maturation, negative regulation of bone trabecula formation, positive regulation of peptidyl-tyrosine autophosphorylation, negative regulation of osteoclast proliferation, positive regulation of branching involved in ureteric bud morphogenesis, negative regulation of canonical Wnt signaling pathway, negative regulation of monocyte chemotaxis, signal transduction by p53 class mediator, positive regulation of protein tyrosine kinase activity, ureteric bud formation, negative regulation of pathway-restricted SMAD protein phosphorylation, limb development, positive regulation of telomerase activity, regulation of focal adhesion assembly, positive regulation of NF-kappaB transcription factor activity, determination of dorsal identity, negative regulation of bone remodeling, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of angiogenesis, negative regulation of osteoblast differentiation, negative regulation of osteoblast differentiation, negative regulation of apoptotic process, sequestering of BMP from receptor via BMP binding, negative regulation of osteoblast proliferation, regulation of stress-activated MAPK cascade, negative regulation of chondrocyte differentiation, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of bone mineralization, embryonic limb morphogenesis, negative regulation of cell growth, collagen fibril organization, regulation of epithelial to mesenchymal transition, proximal/distal pattern formation, animal organ morphogenesis, positive regulation of cell population proliferation, cell-cell signaling, activation of transmembrane receptor protein tyrosine kinase activity, signal transduction, apoptotic process, mesenchymal to epithelial transition involved in metanephros morphogenesis, positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation, positive regulation of receptor internalization, cell migration involved in sprouting angiogenesis, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000166924 chr7 100483927 100494799 + NYAP1 protein_coding 222950 GO:0048812, GO:0014065, neuron projection morphogenesis, phosphatidylinositol 3-kinase signaling, 0 2 0 1 0 0 0 1 0 ENSG00000166925 chr7 100463359 100479279 - TSC22D4 protein_coding TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008]. 81628 GO:0005634, nucleus, GO:0005515, GO:0003700, protein binding, DNA-binding transcription factor activity, GO:0045892, GO:0006970, negative regulation of transcription, DNA-templated, response to osmotic stress, 4110 3978 5509 1808 2790 2576 2637 2547 2424 ENSG00000166926 chr11 60334831 60396596 + MS4A6E protein_coding This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]. 245802 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000166927 chr11 60378482 60395951 + MS4A7 protein_coding This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 58475 GO:0016021, GO:0005802, integral component of membrane, trans-Golgi network, GO:0005515, protein binding, 15 32 52 34 55 38 46 44 53 ENSG00000166928 chr11 60378530 60417756 + MS4A14 protein_coding 84689 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 3 13 8 2 7 5 0 ENSG00000166930 chr11 60429589 60455214 + MS4A5 protein_coding This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008]. 64232 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000166938 chr15 66293217 66333898 + DIS3L protein_coding The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]. 115752 GO:0005886, GO:0005829, GO:0005813, GO:0000178, GO:0000177, GO:0000177, plasma membrane, cytosol, centrosome, exosome (RNase complex), cytoplasmic exosome (RNase complex), cytoplasmic exosome (RNase complex), GO:0019899, GO:0005515, GO:0003723, GO:0000175, GO:0000175, GO:0000175, enzyme binding, protein binding, RNA binding, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:0090503, GO:0016075, GO:0016075, GO:0016075, RNA phosphodiester bond hydrolysis, exonucleolytic, rRNA catabolic process, rRNA catabolic process, rRNA catabolic process, 27 30 49 92 55 143 65 22 103 ENSG00000166946 chr15 43185118 43197176 + CCNDBP1 protein_coding This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]. 23582 GO:0016604, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear body, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0051726, GO:0007049, regulation of cell cycle, cell cycle, 2346 2542 2445 1105 1879 1353 1274 1472 1312 ENSG00000166947 chr15 43197227 43221125 - EPB42 protein_coding Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2038 GO:0030863, GO:0005886, GO:0005856, cortical cytoskeleton, plasma membrane, cytoskeleton, GO:0005524, GO:0005515, GO:0005200, GO:0003810, ATP binding, protein binding, structural constituent of cytoskeleton, protein-glutamine gamma-glutamyltransferase activity, GO:0055072, GO:0048536, GO:0043249, GO:0020027, GO:0018149, GO:0008360, GO:0007010, GO:0000902, iron ion homeostasis, spleen development, erythrocyte maturation, hemoglobin metabolic process, peptide cross-linking, regulation of cell shape, cytoskeleton organization, cell morphogenesis, 2 2 3 2 4 0 0 3 0 ENSG00000166948 chr20 2380908 2432753 + TGM6 protein_coding The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 343641 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0046872, GO:0003810, GO:0003810, metal ion binding, protein-glutamine gamma-glutamyltransferase activity, protein-glutamine gamma-glutamyltransferase activity, GO:0018149, peptide cross-linking, 0 0 0 0 0 0 0 0 0 ENSG00000166949 chr15 67063763 67195195 + SMAD3 protein_coding The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, Nov 2019]. 4088 GO:0071144, GO:0071144, GO:0071141, GO:0043235, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005637, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, heteromeric SMAD protein complex, heteromeric SMAD protein complex, SMAD protein complex, receptor complex, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nuclear inner membrane, nucleus, nucleus, chromatin, chromatin, chromatin, GO:0070412, GO:0070411, GO:0070410, GO:0043565, GO:0043425, GO:0043130, GO:0042803, GO:0042802, GO:0035259, GO:0031962, GO:0031625, GO:0031490, GO:0019902, GO:0019901, GO:0017151, GO:0008270, GO:0008134, GO:0008013, GO:0005518, GO:0005515, GO:0005160, GO:0003700, GO:0003700, GO:0001228, GO:0001228, GO:0001223, GO:0001102, GO:0000987, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, R-SMAD binding, I-SMAD binding, co-SMAD binding, sequence-specific DNA binding, bHLH transcription factor binding, ubiquitin binding, protein homodimerization activity, identical protein binding, glucocorticoid receptor binding, mineralocorticoid receptor binding, ubiquitin protein ligase binding, chromatin DNA binding, phosphatase binding, protein kinase binding, DEAD/H-box RNA helicase binding, zinc ion binding, transcription factor binding, beta-catenin binding, collagen binding, protein binding, transforming growth factor beta receptor binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, transcription coactivator binding, RNA polymerase II activating transcription factor binding, cis-regulatory region sequence-specific DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1903243, GO:1902895, GO:1901203, GO:0097296, GO:0097191, GO:0090263, GO:0071560, GO:0071345, GO:0070306, GO:0061767, GO:0061045, GO:0060395, GO:0060395, GO:0060290, GO:0060039, GO:0051894, GO:0051496, GO:0051481, GO:0051098, GO:0051091, GO:0050927, GO:0050821, GO:0050776, GO:0050728, GO:0050678, GO:0048701, GO:0048617, GO:0048589, GO:0048340, GO:0045944, GO:0045944, GO:0045944, GO:0045930, GO:0045893, GO:0045668, GO:0045599, GO:0045429, GO:0045216, GO:0043066, GO:0042307, GO:0042177, GO:0042110, GO:0042060, GO:0038092, GO:0033689, GO:0032924, GO:0032916, GO:0032909, GO:0032731, GO:0032332, GO:0031053, GO:0030878, GO:0030512, GO:0030509, GO:0030501, GO:0030335, GO:0030325, GO:0030308, GO:0030154, GO:0023019, GO:0017015, GO:0016579, GO:0016202, GO:0016032, GO:0010718, GO:0010718, GO:0010694, GO:0010628, GO:0009880, GO:0009653, GO:0007492, GO:0007183, GO:0007179, GO:0007179, GO:0007179, GO:0007050, GO:0006955, GO:0006919, GO:0006357, GO:0006357, GO:0002520, GO:0002076, GO:0001947, GO:0001889, GO:0001756, GO:0001707, GO:0001701, GO:0001666, GO:0001657, GO:0000122, GO:0000122, GO:0000122, negative regulation of cardiac muscle hypertrophy in response to stress, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of extracellular matrix assembly, activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, extrinsic apoptotic signaling pathway, positive regulation of canonical Wnt signaling pathway, cellular response to transforming growth factor beta stimulus, cellular response to cytokine stimulus, lens fiber cell differentiation, negative regulation of lung blood pressure, negative regulation of wound healing, SMAD protein signal transduction, SMAD protein signal transduction, transdifferentiation, pericardium development, positive regulation of focal adhesion assembly, positive regulation of stress fiber assembly, negative regulation of cytosolic calcium ion concentration, regulation of binding, positive regulation of DNA-binding transcription factor activity, positive regulation of positive chemotaxis, protein stabilization, regulation of immune response, negative regulation of inflammatory response, regulation of epithelial cell proliferation, embryonic cranial skeleton morphogenesis, embryonic foregut morphogenesis, developmental growth, paraxial mesoderm morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, negative regulation of fat cell differentiation, positive regulation of nitric oxide biosynthetic process, cell-cell junction organization, negative regulation of apoptotic process, positive regulation of protein import into nucleus, negative regulation of protein catabolic process, T cell activation, wound healing, nodal signaling pathway, negative regulation of osteoblast proliferation, activin receptor signaling pathway, positive regulation of transforming growth factor beta3 production, regulation of transforming growth factor beta2 production, positive regulation of interleukin-1 beta production, positive regulation of chondrocyte differentiation, primary miRNA processing, thyroid gland development, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, positive regulation of cell migration, adrenal gland development, negative regulation of cell growth, cell differentiation, signal transduction involved in regulation of gene expression, regulation of transforming growth factor beta receptor signaling pathway, protein deubiquitination, regulation of striated muscle tissue development, viral process, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial to mesenchymal transition, positive regulation of alkaline phosphatase activity, positive regulation of gene expression, embryonic pattern specification, anatomical structure morphogenesis, endoderm development, SMAD protein complex assembly, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, cell cycle arrest, immune response, activation of cysteine-type endopeptidase activity involved in apoptotic process, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, immune system development, osteoblast development, heart looping, liver development, somitogenesis, mesoderm formation, in utero embryonic development, response to hypoxia, ureteric bud development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 83 98 253 166 48 213 171 44 129 ENSG00000166959 chr11 60699574 60715811 + MS4A8 protein_coding This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]. 83661 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000166960 chr18 32937402 33441101 - CCDC178 protein_coding 374864 GO:0036064, ciliary basal body, 0 0 0 0 0 0 0 0 0 ENSG00000166961 chr11 60756953 60776732 + MS4A15 protein_coding 219995 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000166963 chr15 43510958 43531620 + MAP1A protein_coding This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]. 4130 GO:1904115, GO:1901588, GO:0150001, GO:0045202, GO:0044307, GO:0043198, GO:0043194, GO:0043025, GO:0043025, GO:0043005, GO:0030425, GO:0030425, GO:0030424, GO:0005875, GO:0005874, GO:0005829, GO:0005737, axon cytoplasm, dendritic microtubule, primary dendrite, synapse, dendritic branch, dendritic shaft, axon initial segment, neuronal cell body, neuronal cell body, neuron projection, dendrite, dendrite, axon, microtubule associated complex, microtubule, cytosol, cytoplasm, GO:0048156, GO:0015631, GO:0008093, GO:0008017, GO:0008017, GO:0008017, GO:0005515, GO:0005198, GO:0003779, GO:0003779, tau protein binding, tubulin binding, cytoskeletal anchor activity, microtubule binding, microtubule binding, microtubule binding, protein binding, structural molecule activity, actin binding, actin binding, GO:2000010, GO:1990535, GO:1903829, GO:1902817, GO:0099642, GO:0099641, GO:0070050, GO:0050882, GO:0048167, GO:0032435, GO:0031114, GO:0016358, GO:0008306, GO:0007613, GO:0007409, GO:0000226, GO:0000226, positive regulation of protein localization to cell surface, neuron projection maintenance, positive regulation of cellular protein localization, negative regulation of protein localization to microtubule, retrograde axonal protein transport, anterograde axonal protein transport, neuron cellular homeostasis, voluntary musculoskeletal movement, regulation of synaptic plasticity, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of microtubule depolymerization, dendrite development, associative learning, memory, axonogenesis, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 17 27 50 20 40 33 15 21 10 ENSG00000166965 chr15 90954870 90963125 + RCCD1 protein_coding 91433 GO:0005886, GO:0005829, GO:0005694, plasma membrane, cytosol, chromosome, GO:0005515, protein binding, GO:0006325, chromatin organization, 11 7 11 35 29 29 17 13 18 ENSG00000166971 chr16 53491040 53504411 - AKTIP protein_coding The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 64400 GO:0070695, GO:0030897, GO:0005886, GO:0005829, GO:0005634, FHF complex, HOPS complex, plasma membrane, cytosol, nucleus, GO:0061631, GO:0019787, GO:0005515, ubiquitin conjugating enzyme activity, ubiquitin-like protein transferase activity, protein binding, GO:0045022, GO:0032092, GO:0015031, GO:0008333, GO:0007040, GO:0007032, GO:0006974, GO:0006915, GO:0001934, GO:0000209, early endosome to late endosome transport, positive regulation of protein binding, protein transport, endosome to lysosome transport, lysosome organization, endosome organization, cellular response to DNA damage stimulus, apoptotic process, positive regulation of protein phosphorylation, protein polyubiquitination, 503 468 783 443 476 730 525 453 518 ENSG00000166974 chr18 34976928 35143470 + MAPRE2 protein_coding The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 10982 GO:0051233, GO:0035371, GO:0015630, GO:0005925, GO:0005881, GO:0005815, GO:0005737, spindle midzone, microtubule plus-end, microtubule cytoskeleton, focal adhesion, cytoplasmic microtubule, microtubule organizing center, cytoplasm, GO:0051010, GO:0042802, GO:0019901, GO:0008017, GO:0005515, microtubule plus-end binding, identical protein binding, protein kinase binding, microtubule binding, protein binding, GO:1904825, GO:0120183, GO:0051549, GO:0051301, GO:0051225, GO:0043547, GO:0032014, GO:0031110, protein localization to microtubule plus-end, positive regulation of focal adhesion disassembly, positive regulation of keratinocyte migration, cell division, spindle assembly, positive regulation of GTPase activity, positive regulation of ARF protein signal transduction, regulation of microtubule polymerization or depolymerization, 398 442 615 311 405 408 272 360 348 ENSG00000166979 chr21 32412006 32515397 + EVA1C protein_coding 59271 GO:0016021, GO:0005576, GO:0005576, integral component of membrane, extracellular region, extracellular region, GO:0030246, GO:0008201, GO:0008201, carbohydrate binding, heparin binding, heparin binding, GO:0008150, biological_process, 1 1 7 14 5 27 11 1 22 ENSG00000166984 chr6 167146414 167196913 + TCP10L2 protein_coding 1 0 0 1 0 0 0 0 0 ENSG00000166986 chr12 57475445 57517569 + MARS protein_coding This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]. 4141 GO:0070062, GO:0017101, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005730, extracellular exosome, aminoacyl-tRNA synthetase multienzyme complex, membrane, cytosol, cytosol, cytosol, cytoplasm, nucleolus, GO:0005524, GO:0004825, GO:0004825, GO:0000049, ATP binding, methionine-tRNA ligase activity, methionine-tRNA ligase activity, tRNA binding, GO:1901838, GO:0071364, GO:0036120, GO:0032869, GO:0009303, GO:0009267, GO:0006431, GO:0006418, GO:0006418, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, cellular response to epidermal growth factor stimulus, cellular response to platelet-derived growth factor stimulus, cellular response to insulin stimulus, rRNA transcription, cellular response to starvation, methionyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, tRNA aminoacylation for protein translation, 3942 4251 4519 13957 14297 14851 12147 9629 10809 ENSG00000166987 chr12 57520710 57530148 + MBD6 protein_coding 114785 GO:0010369, GO:0010369, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, chromocenter, chromocenter, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0005515, GO:0003682, GO:0003682, GO:0003677, protein binding, chromatin binding, chromatin binding, DNA binding, GO:0016579, protein deubiquitination, 3595 4516 4343 2624 4119 3916 3393 3591 3197 ENSG00000166997 chr7 100119613 100125511 + CNPY4 protein_coding 245812 GO:0005576, extracellular region, GO:0005515, GO:0005102, GO:0003674, protein binding, signaling receptor binding, molecular_function, GO:1903078, positive regulation of protein localization to plasma membrane, 18 15 24 21 23 60 31 19 48 ENSG00000167004 chr15 43746392 43773279 + PDIA3 protein_coding This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]. 2923 GO:0070062, GO:0055038, GO:0045335, GO:0042824, GO:0042470, GO:0009986, GO:0009986, GO:0005925, GO:0005788, GO:0005783, GO:0005783, GO:0005783, GO:0005634, GO:0005615, extracellular exosome, recycling endosome membrane, phagocytic vesicle, MHC class I peptide loading complex, melanosome, cell surface, cell surface, focal adhesion, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, nucleus, extracellular space, GO:0042802, GO:0015037, GO:0015036, GO:0005515, GO:0004629, GO:0004197, GO:0003756, GO:0003723, identical protein binding, peptide disulfide oxidoreductase activity, disulfide oxidoreductase activity, protein binding, phospholipase C activity, cysteine-type endopeptidase activity, protein disulfide isomerase activity, RNA binding, GO:2001238, GO:0098761, GO:0055114, GO:0034976, GO:0034975, GO:0006508, GO:0006457, GO:0006457, GO:0002479, GO:0002474, positive regulation of extrinsic apoptotic signaling pathway, cellular response to interleukin-7, oxidation-reduction process, response to endoplasmic reticulum stress, protein folding in endoplasmic reticulum, proteolysis, protein folding, protein folding, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, 771 672 1728 661 551 1175 594 512 943 ENSG00000167005 chr16 56429133 56452199 - NUDT21 protein_coding The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]. 11051 GO:0042382, GO:0034451, GO:0016604, GO:0005849, GO:0005849, GO:0005847, GO:0005813, GO:0005737, GO:0005654, GO:0005634, paraspeckles, centriolar satellite, nuclear body, mRNA cleavage factor complex, mRNA cleavage factor complex, mRNA cleavage and polyadenylation specificity factor complex, centrosome, cytoplasm, nucleoplasm, nucleus, GO:0042826, GO:0042803, GO:0042802, GO:0042802, GO:0035925, GO:0017091, GO:0016787, GO:0005515, GO:0003729, GO:0003729, GO:0003723, GO:0003723, GO:0003682, histone deacetylase binding, protein homodimerization activity, identical protein binding, identical protein binding, mRNA 3'-UTR AU-rich region binding, AU-rich element binding, hydrolase activity, protein binding, mRNA binding, mRNA binding, RNA binding, RNA binding, chromatin binding, GO:2000975, GO:2000738, GO:1990120, GO:1900365, GO:0110104, GO:0098789, GO:0051290, GO:0051262, GO:0031439, GO:0031124, GO:0030154, GO:0010608, GO:0006397, GO:0006397, GO:0006378, GO:0006369, GO:0000398, positive regulation of pro-B cell differentiation, positive regulation of stem cell differentiation, messenger ribonucleoprotein complex assembly, positive regulation of mRNA polyadenylation, mRNA alternative polyadenylation, pre-mRNA cleavage required for polyadenylation, protein heterotetramerization, protein tetramerization, positive regulation of mRNA cleavage, mRNA 3'-end processing, cell differentiation, posttranscriptional regulation of gene expression, mRNA processing, mRNA processing, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 229 253 246 194 170 194 160 186 171 ENSG00000167011 chr7 101170493 101180276 - NAT16 protein_coding 375607 GO:0016747, GO:0008080, transferase activity, transferring acyl groups other than amino-acyl groups, N-acetyltransferase activity, 0 0 0 0 0 0 0 0 0 ENSG00000167014 chr15 44956702 44979229 + TERB2 protein_coding 145645 GO:0005637, GO:0005637, GO:0000781, GO:0000781, nuclear inner membrane, nuclear inner membrane, chromosome, telomeric region, chromosome, telomeric region, GO:0005515, protein binding, GO:0070197, GO:0070197, GO:0045141, GO:0007129, GO:0007129, meiotic attachment of telomere to nuclear envelope, meiotic attachment of telomere to nuclear envelope, meiotic telomere clustering, homologous chromosome pairing at meiosis, homologous chromosome pairing at meiosis, 1 1 2 2 0 6 4 1 6 ENSG00000167034 chr8 23678693 23682927 - NKX3-1 protein_coding This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. Aberrant expression of this gene is associated with prostate tumor progression. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jan 2012]. 4824 GO:0090734, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005634, GO:0000785, site of DNA damage, cytosol, nucleoplasm, nucleus, nucleus, nucleus, nucleus, chromatin, GO:1990837, GO:0097162, GO:0043621, GO:0043565, GO:0042826, GO:0030331, GO:0030284, GO:0008656, GO:0008134, GO:0005515, GO:0004879, GO:0003700, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, MADS box domain binding, protein self-association, sequence-specific DNA binding, histone deacetylase binding, estrogen receptor binding, estrogen receptor activity, cysteine-type endopeptidase activator activity involved in apoptotic process, transcription factor binding, protein binding, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001244, GO:2001235, GO:2001022, GO:2000836, GO:0071899, GO:0071850, GO:0071456, GO:0071383, GO:0071356, GO:0071347, GO:0060770, GO:0060664, GO:0060442, GO:0060037, GO:0051781, GO:0051091, GO:0050680, GO:0048754, GO:0045944, GO:0045931, GO:0045930, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0043569, GO:0043491, GO:0043280, GO:0035907, GO:0035690, GO:0033574, GO:0032880, GO:0030521, GO:0030154, GO:0014068, GO:0010942, GO:0010629, GO:0010628, GO:0010628, GO:0008584, GO:0008285, GO:0008284, GO:0007507, GO:0007431, GO:0007275, GO:0006919, GO:0006357, GO:0006355, GO:0001934, GO:0001756, GO:0001656, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of apoptotic signaling pathway, positive regulation of response to DNA damage stimulus, positive regulation of androgen secretion, negative regulation of estrogen receptor binding, mitotic cell cycle arrest, cellular response to hypoxia, cellular response to steroid hormone stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-1, negative regulation of epithelial cell proliferation involved in prostate gland development, epithelial cell proliferation involved in salivary gland morphogenesis, branching involved in prostate gland morphogenesis, pharyngeal system development, positive regulation of cell division, positive regulation of DNA-binding transcription factor activity, negative regulation of epithelial cell proliferation, branching morphogenesis of an epithelial tube, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, negative regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of insulin-like growth factor receptor signaling pathway, protein kinase B signaling, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, dorsal aorta development, cellular response to drug, response to testosterone, regulation of protein localization, androgen receptor signaling pathway, cell differentiation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of cell death, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, male gonad development, negative regulation of cell population proliferation, positive regulation of cell population proliferation, heart development, salivary gland development, multicellular organism development, activation of cysteine-type endopeptidase activity involved in apoptotic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, positive regulation of protein phosphorylation, somitogenesis, metanephros development, 13 11 39 22 22 27 21 12 8 ENSG00000167037 chr22 24806169 24927578 + SGSM1 protein_coding 129049 GO:0030659, GO:0030659, GO:0005829, GO:0005794, GO:0005737, cytoplasmic vesicle membrane, cytoplasmic vesicle membrane, cytosol, Golgi apparatus, cytoplasm, GO:0031267, GO:0031267, GO:0005096, GO:0005096, small GTPase binding, small GTPase binding, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 5 4 2 4 7 3 3 3 ENSG00000167046 chr20 62640719 62643304 - AL357033.1 antisense 2 8 4 8 17 8 11 6 0 ENSG00000167065 chr22 30652051 30667890 - DUSP18 protein_coding Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP18 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]. 150290 GO:0005743, GO:0005737, GO:0005654, GO:0005634, mitochondrial inner membrane, cytoplasm, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0017017, GO:0016791, GO:0008138, GO:0005515, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, MAP kinase tyrosine/serine/threonine phosphatase activity, phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, GO:0035970, GO:0035335, GO:0016311, GO:0000188, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, dephosphorylation, inactivation of MAPK activity, 218 198 251 126 196 221 170 180 181 ENSG00000167074 chr22 41367333 41399326 + TEF protein_coding This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 7008 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048511, GO:0045944, GO:0006357, GO:0006357, rhythmic process, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 31 42 30 20 42 39 20 33 16 ENSG00000167077 chr22 41699499 41799456 + MEI1 protein_coding 150365 GO:0048477, GO:0045141, GO:0040038, GO:0007286, GO:0007141, GO:0007127, GO:0000212, oogenesis, meiotic telomere clustering, polar body extrusion after meiotic divisions, spermatid development, male meiosis I, meiosis I, meiotic spindle organization, 24 39 114 48 29 84 37 15 53 ENSG00000167080 chr17 49132460 49176840 + B4GALNT2 protein_coding B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]. 124872 GO:0030173, GO:0016021, GO:0000139, integral component of Golgi membrane, integral component of membrane, Golgi membrane, GO:0008376, GO:0008376, GO:0008376, GO:0005515, acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, protein binding, GO:0030259, GO:0022408, GO:0019276, GO:0019276, GO:0018279, GO:0006047, lipid glycosylation, negative regulation of cell-cell adhesion, UDP-N-acetylgalactosamine metabolic process, UDP-N-acetylgalactosamine metabolic process, protein N-linked glycosylation via asparagine, UDP-N-acetylglucosamine metabolic process, 0 0 1 0 0 0 0 0 0 ENSG00000167081 chr9 125747345 125967377 + PBX3 protein_coding 5090 GO:0005667, GO:0000785, GO:0000785, transcription regulator complex, chromatin, chromatin, GO:0001228, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048666, GO:0048568, GO:0045944, GO:0021516, GO:0009887, GO:0008344, GO:0007585, GO:0007420, GO:0007388, GO:0007387, GO:0006357, GO:0002087, GO:0001654, neuron development, embryonic organ development, positive regulation of transcription by RNA polymerase II, dorsal spinal cord development, animal organ morphogenesis, adult locomotory behavior, respiratory gaseous exchange by respiratory system, brain development, posterior compartment specification, anterior compartment pattern formation, regulation of transcription by RNA polymerase II, regulation of respiratory gaseous exchange by nervous system process, eye development, 74 60 112 53 58 75 76 58 61 ENSG00000167083 chr17 49202791 49210574 - GNGT2 protein_coding Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]. 2793 GO:0031680, GO:0005886, GO:0005834, GO:0005834, GO:0005834, G-protein beta/gamma-subunit complex, plasma membrane, heterotrimeric G-protein complex, heterotrimeric G-protein complex, heterotrimeric G-protein complex, GO:0031681, GO:0003924, GO:0003924, G-protein beta-subunit binding, GTPase activity, GTPase activity, GO:0007602, GO:0007186, GO:0007186, phototransduction, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 57 82 83 120 170 80 123 102 64 ENSG00000167085 chr17 49404049 49414905 - PHB protein_coding This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 5245 GO:0098978, GO:0070062, GO:0035632, GO:0031315, GO:0030061, GO:0016020, GO:0014069, GO:0009986, GO:0005887, GO:0005886, GO:0005769, GO:0005743, GO:0005743, GO:0005739, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, glutamatergic synapse, extracellular exosome, mitochondrial prohibitin complex, extrinsic component of mitochondrial outer membrane, mitochondrial crista, membrane, postsynaptic density, cell surface, integral component of plasma membrane, plasma membrane, early endosome, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046982, GO:0042826, GO:0031871, GO:0019899, GO:0008022, GO:0005515, GO:0003714, GO:0001851, GO:0001850, protein heterodimerization activity, histone deacetylase binding, proteinase activated receptor binding, enzyme binding, protein C-terminus binding, protein binding, transcription corepressor activity, complement component C3b binding, complement component C3a binding, GO:2000323, GO:1990051, GO:1901224, GO:0140374, GO:0072538, GO:0071897, GO:0071354, GO:0070374, GO:0070373, GO:0060766, GO:0060766, GO:0051897, GO:0050847, GO:0050821, GO:0048661, GO:0046718, GO:0045917, GO:0045893, GO:0045892, GO:0045892, GO:0045745, GO:0045471, GO:0044830, GO:0043434, GO:0043066, GO:0042981, GO:0042493, GO:0042177, GO:0042113, GO:0039529, GO:0035902, GO:0032620, GO:0031100, GO:0030308, GO:0023035, GO:0016575, GO:0010944, GO:0010942, GO:0010628, GO:0008285, GO:0007202, GO:0007165, GO:0007005, GO:0006851, GO:0006355, GO:0002377, GO:0001649, GO:0001552, GO:0001541, GO:0000122, negative regulation of glucocorticoid receptor signaling pathway, activation of protein kinase C activity, positive regulation of NIK/NF-kappaB signaling, antiviral innate immune response, T-helper 17 type immune response, DNA biosynthetic process, cellular response to interleukin-6, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of androgen receptor signaling pathway, negative regulation of androgen receptor signaling pathway, positive regulation of protein kinase B signaling, progesterone receptor signaling pathway, protein stabilization, positive regulation of smooth muscle cell proliferation, viral entry into host cell, positive regulation of complement activation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of G protein-coupled receptor signaling pathway, response to ethanol, modulation by host of viral RNA genome replication, response to peptide hormone, negative regulation of apoptotic process, regulation of apoptotic process, response to drug, negative regulation of protein catabolic process, B cell activation, RIG-I signaling pathway, response to immobilization stress, interleukin-17 production, animal organ regeneration, negative regulation of cell growth, CD40 signaling pathway, histone deacetylation, negative regulation of transcription by competitive promoter binding, positive regulation of cell death, positive regulation of gene expression, negative regulation of cell population proliferation, activation of phospholipase C activity, signal transduction, mitochondrion organization, mitochondrial calcium ion transmembrane transport, regulation of transcription, DNA-templated, immunoglobulin production, osteoblast differentiation, ovarian follicle atresia, ovarian follicle development, negative regulation of transcription by RNA polymerase II, 45 36 42 59 34 79 59 18 68 ENSG00000167088 chr18 21612267 21633524 + SNRPD1 protein_coding This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. 6632 GO:0097526, GO:0071013, GO:0071013, GO:0071011, GO:0071007, GO:0071005, GO:0046540, GO:0034719, GO:0034719, GO:0034715, GO:0034715, GO:0034709, GO:0030532, GO:0005829, GO:0005829, GO:0005689, GO:0005689, GO:0005687, GO:0005687, GO:0005686, GO:0005685, GO:0005685, GO:0005682, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000243, spliceosomal tri-snRNP complex, catalytic step 2 spliceosome, catalytic step 2 spliceosome, precatalytic spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, SMN-Sm protein complex, SMN-Sm protein complex, pICln-Sm protein complex, pICln-Sm protein complex, methylosome, small nuclear ribonucleoprotein complex, cytosol, cytosol, U12-type spliceosomal complex, U12-type spliceosomal complex, U4 snRNP, U4 snRNP, U2 snRNP, U1 snRNP, U1 snRNP, U5 snRNP, nucleoplasm, nucleus, nucleus, nucleus, commitment complex, GO:1990446, GO:0005515, GO:0003723, GO:0003723, U1 snRNP binding, protein binding, RNA binding, RNA binding, GO:0051170, GO:0008380, GO:0000398, GO:0000398, GO:0000398, GO:0000387, GO:0000387, GO:0000387, GO:0000245, import into nucleus, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal complex assembly, 17 14 24 47 32 78 46 21 16 ENSG00000167094 chr9 127716066 127731600 + TTC16 protein_coding 158248 7 12 16 22 14 80 28 16 49 ENSG00000167098 chr20 32983773 33004433 - SUN5 protein_coding The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]. 140732 GO:0097224, GO:0097224, GO:0034993, GO:0016021, GO:0005794, GO:0005637, GO:0005635, sperm connecting piece, sperm connecting piece, meiotic nuclear membrane microtubule tethering complex, integral component of membrane, Golgi apparatus, nuclear inner membrane, nuclear envelope, GO:0043495, GO:0005515, GO:0003674, protein-membrane adaptor activity, protein binding, molecular_function, GO:0007286, GO:0007283, GO:0006998, spermatid development, spermatogenesis, nuclear envelope organization, 0 0 0 0 0 0 0 0 0 ENSG00000167100 chr17 50110040 50129882 - SAMD14 protein_coding 201191 GO:0030425, GO:0015629, GO:0014069, GO:0005737, dendrite, actin cytoskeleton, postsynaptic density, cytoplasm, GO:0051015, actin filament binding, GO:0031175, GO:0019722, GO:0007015, neuron projection development, calcium-mediated signaling, actin filament organization, 6 2 1 29 13 26 19 11 24 ENSG00000167103 chr9 127920879 127930797 - PIP5KL1 protein_coding PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009]. 138429 GO:0042995, GO:0016020, GO:0005829, cell projection, membrane, cytosol, GO:0016308, GO:0005524, 1-phosphatidylinositol-4-phosphate 5-kinase activity, ATP binding, GO:0046854, GO:0043065, GO:0030336, GO:0010917, GO:0001933, phosphatidylinositol phosphorylation, positive regulation of apoptotic process, negative regulation of cell migration, negative regulation of mitochondrial membrane potential, negative regulation of protein phosphorylation, 0 0 1 6 1 1 0 1 5 ENSG00000167104 chr20 33031648 33044047 + BPIFB6 protein_coding 128859 GO:0005576, extracellular region, GO:0008289, lipid binding, 0 0 0 0 0 0 0 0 0 ENSG00000167105 chr17 50271406 50281485 + TMEM92 protein_coding 162461 GO:0016021, GO:0005654, GO:0005654, integral component of membrane, nucleoplasm, nucleoplasm, GO:0005515, protein binding, 19 22 50 23 24 71 51 12 35 ENSG00000167106 chr9 127940579 127980513 - FAM102A protein_coding 399665 GO:0005515, protein binding, 188 160 366 461 153 453 462 131 331 ENSG00000167107 chr17 50426158 50474845 + ACSF2 protein_coding 80221 GO:0005759, mitochondrial matrix, GO:0047760, GO:0031956, GO:0031956, GO:0005524, GO:0005515, GO:0003996, butyrate-CoA ligase activity, medium-chain fatty acid-CoA ligase activity, medium-chain fatty acid-CoA ligase activity, ATP binding, protein binding, acyl-CoA ligase activity, GO:0006637, GO:0006631, acyl-CoA metabolic process, fatty acid metabolic process, 16 45 52 21 29 37 30 13 14 ENSG00000167110 chr9 128255829 128275995 - GOLGA2 protein_coding The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]. 2801 GO:0072686, GO:0033116, GO:0032580, GO:0032580, GO:0030134, GO:0005874, GO:0005801, GO:0005801, GO:0005794, GO:0000922, GO:0000139, GO:0000137, GO:0000137, mitotic spindle, endoplasmic reticulum-Golgi intermediate compartment membrane, Golgi cisterna membrane, Golgi cisterna membrane, COPII-coated ER to Golgi transport vesicle, microtubule, cis-Golgi network, cis-Golgi network, Golgi apparatus, spindle pole, Golgi membrane, Golgi cis cisterna, Golgi cis cisterna, GO:0061676, GO:0045296, GO:0042802, GO:0019905, GO:0019901, GO:0008017, GO:0005515, importin-alpha family protein binding, cadherin binding, identical protein binding, syntaxin binding, protein kinase binding, microtubule binding, protein binding, GO:1904668, GO:0090307, GO:0090306, GO:0090166, GO:0090161, GO:0060050, GO:0051289, GO:0051225, GO:0051225, GO:0048208, GO:0032091, GO:0015031, GO:0010507, GO:0008356, GO:0007098, GO:0007098, GO:0007030, GO:0007020, GO:0007020, GO:0006888, GO:0006888, GO:0006486, positive regulation of ubiquitin protein ligase activity, mitotic spindle assembly, spindle assembly involved in meiosis, Golgi disassembly, Golgi ribbon formation, positive regulation of protein glycosylation, protein homotetramerization, spindle assembly, spindle assembly, COPII vesicle coating, negative regulation of protein binding, protein transport, negative regulation of autophagy, asymmetric cell division, centrosome cycle, centrosome cycle, Golgi organization, microtubule nucleation, microtubule nucleation, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein glycosylation, 1562 1666 1938 887 1356 1340 1010 903 1025 ENSG00000167112 chr9 128305161 128322742 - TRUB2 protein_coding Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]. 26995 GO:0005759, mitochondrial matrix, GO:0009982, GO:0003723, pseudouridine synthase activity, RNA binding, GO:0070131, GO:0006397, GO:0001522, positive regulation of mitochondrial translation, mRNA processing, pseudouridine synthesis, 15 9 15 29 15 37 26 17 17 ENSG00000167113 chr9 128322536 128334072 + COQ4 protein_coding This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 51117 GO:0032991, GO:0031314, GO:0005739, GO:0005739, protein-containing complex, extrinsic component of mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0006744, ubiquinone biosynthetic process, 22 29 33 55 34 84 79 22 44 ENSG00000167114 chr9 128340646 128361470 + SLC27A4 protein_coding This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]. 10999 GO:0031526, GO:0016021, GO:0016020, GO:0005902, GO:0005886, GO:0005886, GO:0005789, GO:0005789, GO:0005783, GO:0005783, brush border membrane, integral component of membrane, membrane, microvillus, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0090434, GO:0090434, GO:0090433, GO:0047676, GO:0031957, GO:0005324, GO:0005324, GO:0004467, GO:0004467, GO:0000166, oleoyl-CoA ligase activity, oleoyl-CoA ligase activity, palmitoyl-CoA ligase activity, arachidonate-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, long-chain fatty acid transporter activity, long-chain fatty acid transporter activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, nucleotide binding, GO:1990379, GO:0150104, GO:0090630, GO:0062003, GO:0046627, GO:0044539, GO:0044539, GO:0044539, GO:0044381, GO:0043588, GO:0043065, GO:0042760, GO:0015909, GO:0015909, GO:0015908, GO:0007584, GO:0006631, GO:0001676, GO:0001579, lipid transport across blood-brain barrier, transport across blood-brain barrier, activation of GTPase activity, negative regulation of all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity, negative regulation of insulin receptor signaling pathway, long-chain fatty acid import into cell, long-chain fatty acid import into cell, long-chain fatty acid import into cell, glucose import in response to insulin stimulus, skin development, positive regulation of apoptotic process, very long-chain fatty acid catabolic process, long-chain fatty acid transport, long-chain fatty acid transport, fatty acid transport, response to nutrient, fatty acid metabolic process, long-chain fatty acid metabolic process, medium-chain fatty acid transport, 6 13 24 18 8 40 29 8 14 ENSG00000167117 chr17 50761029 50767557 - ANKRD40CL protein_coding 55018 0 0 0 0 0 0 0 0 0 ENSG00000167118 chr9 128371319 128392016 + URM1 protein_coding 81605 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0097163, GO:0031386, GO:0005515, sulfur carrier activity, protein tag, protein binding, GO:0034227, GO:0032447, GO:0006400, GO:0002098, tRNA thio-modification, protein urmylation, tRNA modification, tRNA wobble uridine modification, 66 68 83 72 61 114 64 68 100 ENSG00000167123 chr9 128411751 128437351 + CERCAM protein_coding 51148 GO:0005886, GO:0005788, plasma membrane, endoplasmic reticulum lumen, GO:0050211, GO:0042802, GO:0005515, procollagen galactosyltransferase activity, identical protein binding, protein binding, GO:0007159, GO:0007155, leukocyte cell-cell adhesion, cell adhesion, 2 2 5 4 2 0 8 5 2 ENSG00000167130 chr9 129081100 129090438 + DOLPP1 protein_coding A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]. 57171 GO:0043231, GO:0030176, GO:0030176, GO:0005789, intracellular membrane-bounded organelle, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0047874, GO:0047874, GO:0047874, dolichyldiphosphatase activity, dolichyldiphosphatase activity, dolichyldiphosphatase activity, GO:0008610, GO:0006489, GO:0006487, GO:0006487, lipid biosynthetic process, dolichyl diphosphate biosynthetic process, protein N-linked glycosylation, protein N-linked glycosylation, 7 4 6 18 9 20 16 8 3 ENSG00000167131 chr17 44899142 44905390 + CCDC103 protein_coding This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]. 388389 GO:0036157, GO:0031514, GO:0005930, GO:0005737, GO:0005576, outer dynein arm, motile cilium, axoneme, cytoplasm, extracellular region, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0071907, GO:0070286, GO:0060287, GO:0036159, GO:0036159, GO:0036158, GO:0007368, GO:0003351, GO:0003341, GO:0001947, determination of digestive tract left/right asymmetry, axonemal dynein complex assembly, epithelial cilium movement involved in determination of left/right asymmetry, inner dynein arm assembly, inner dynein arm assembly, outer dynein arm assembly, determination of left/right symmetry, epithelial cilium movement involved in extracellular fluid movement, cilium movement, heart looping, 6 6 5 6 5 16 11 3 0 ENSG00000167136 chr9 128818474 128822677 + ENDOG protein_coding The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008]. 2021 GO:0043204, GO:0005829, GO:0005743, GO:0005634, perikaryon, cytosol, mitochondrial inner membrane, nucleus, GO:0046872, GO:0005515, GO:0004521, GO:0004519, GO:0003676, GO:0000014, metal ion binding, protein binding, endoribonuclease activity, endonuclease activity, nucleic acid binding, single-stranded DNA endodeoxyribonuclease activity, GO:1902512, GO:1901300, GO:0090502, GO:0071456, GO:0071333, GO:0071277, GO:0046677, GO:0036475, GO:0034612, GO:0032355, GO:0009612, GO:0007568, GO:0006310, GO:0006309, GO:0001701, positive regulation of apoptotic DNA fragmentation, positive regulation of hydrogen peroxide-mediated programmed cell death, RNA phosphodiester bond hydrolysis, endonucleolytic, cellular response to hypoxia, cellular response to glucose stimulus, cellular response to calcium ion, response to antibiotic, neuron death in response to oxidative stress, response to tumor necrosis factor, response to estradiol, response to mechanical stimulus, aging, DNA recombination, apoptotic DNA fragmentation, in utero embryonic development, 14 13 17 32 17 34 24 23 22 ENSG00000167139 chr15 73873608 73889214 + TBC1D21 protein_coding 161514 GO:0070062, GO:0005856, GO:0001669, extracellular exosome, cytoskeleton, acrosomal vesicle, GO:0031267, GO:0005515, GO:0005096, GO:0003779, small GTPase binding, protein binding, GTPase activator activity, actin binding, GO:1902017, GO:0090630, GO:0030154, GO:0007283, GO:0006886, regulation of cilium assembly, activation of GTPase activity, cell differentiation, spermatogenesis, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000167157 chr9 129665641 129722674 + PRRX2 protein_coding The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008]. 51450 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007275, GO:0006357, GO:0006357, GO:0006355, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 2 0 0 ENSG00000167165 chr2 233691607 233773300 + UGT1A6 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]. 54578 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042803, GO:0019899, GO:0015020, GO:0001972, protein homodimerization activity, enzyme binding, glucuronosyltransferase activity, retinoic acid binding, GO:0052697, GO:0052696, GO:0052695, GO:0052695, GO:0006805, xenobiotic glucuronidation, flavonoid glucuronidation, cellular glucuronidation, cellular glucuronidation, xenobiotic metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000167173 chr15 75195643 75212169 + C15orf39 protein_coding 56905 GO:0005829, cytosol, 14289 13367 19549 765 2347 1107 1377 1980 1413 ENSG00000167178 chr15 74100311 74138540 + ISLR2 protein_coding 57611 GO:0016021, GO:0009986, GO:0009986, GO:0005886, integral component of membrane, cell surface, cell surface, plasma membrane, GO:0005515, protein binding, GO:0045773, GO:0045773, positive regulation of axon extension, positive regulation of axon extension, 1 0 0 0 0 0 0 1 0 ENSG00000167182 chr17 47896150 47928957 + SP2 protein_coding This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. [provided by RefSeq, Jul 2008]. 6668 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0046872, GO:0042826, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, histone deacetylase binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0035264, GO:0006955, GO:0006357, GO:0000122, multicellular organism growth, immune response, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 508 554 688 245 395 357 293 320 355 ENSG00000167183 chr17 47951967 47957878 - PRR15L protein_coding 79170 2 0 0 0 0 0 0 0 0 ENSG00000167186 chr16 19067599 19080095 + COQ7 protein_coding The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]. 10229 GO:0031314, GO:0005743, GO:0005634, GO:0005634, extrinsic component of mitochondrial inner membrane, mitochondrial inner membrane, nucleus, nucleus, GO:0046872, GO:0016709, GO:0008682, GO:0005515, metal ion binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, 2-octoprenyl-3-methyl-6-methoxy-1,4-benzoquinone hydroxylase activity, protein binding, GO:2000377, GO:0055114, GO:0010468, GO:0008340, GO:0006744, GO:0006744, regulation of reactive oxygen species metabolic process, oxidation-reduction process, regulation of gene expression, determination of adult lifespan, ubiquinone biosynthetic process, ubiquinone biosynthetic process, 134 127 162 135 145 235 138 126 113 ENSG00000167191 chr16 19856691 19886167 - GPRC5B protein_coding This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 51704 GO:0070062, GO:0070062, GO:0070062, GO:0043235, GO:0043231, GO:0043231, GO:0030659, GO:0016021, GO:0009986, GO:0005886, GO:0005829, GO:0005730, GO:0005654, GO:0005615, extracellular exosome, extracellular exosome, extracellular exosome, receptor complex, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, cytoplasmic vesicle membrane, integral component of membrane, cell surface, plasma membrane, cytosol, nucleolus, nucleoplasm, extracellular space, GO:0030295, GO:0030295, GO:0019901, GO:0019901, GO:0004930, GO:0001664, protein kinase activator activity, protein kinase activator activity, protein kinase binding, protein kinase binding, G protein-coupled receptor activity, G protein-coupled receptor binding, GO:0090263, GO:0061098, GO:0060907, GO:0050729, GO:0045666, GO:0043123, GO:0032147, GO:0007186, positive regulation of canonical Wnt signaling pathway, positive regulation of protein tyrosine kinase activity, positive regulation of macrophage cytokine production, positive regulation of inflammatory response, positive regulation of neuron differentiation, positive regulation of I-kappaB kinase/NF-kappaB signaling, activation of protein kinase activity, G protein-coupled receptor signaling pathway, 0 0 0 0 0 1 2 0 3 ENSG00000167193 chr17 1420689 1463162 - CRK protein_coding This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Jul 2008]. 1398 GO:0070062, GO:0045121, GO:0032991, GO:0016020, GO:0015629, GO:0005886, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, membrane raft, protein-containing complex, membrane, actin cytoskeleton, plasma membrane, cytosol, cytoplasm, nucleus, GO:1990782, GO:0097110, GO:0046875, GO:0045309, GO:0043621, GO:0042169, GO:0035591, GO:0030159, GO:0019900, GO:0017124, GO:0008092, GO:0005515, GO:0005159, GO:0001784, protein tyrosine kinase binding, scaffold protein binding, ephrin receptor binding, protein phosphorylated amino acid binding, protein self-association, SH2 domain binding, signaling adaptor activity, signaling receptor complex adaptor activity, kinase binding, SH3 domain binding, cytoskeletal protein binding, protein binding, insulin-like growth factor receptor binding, phosphotyrosine residue binding, GO:2000404, GO:2000146, GO:2000146, GO:1990859, GO:1990314, GO:1990090, GO:1902531, GO:1900026, GO:0098749, GO:0090630, GO:0071732, GO:0071560, GO:0061847, GO:0061045, GO:0061045, GO:0060326, GO:0050773, GO:0048013, GO:0048010, GO:0045953, GO:0043393, GO:0043087, GO:0042542, GO:0038096, GO:0038026, GO:0035728, GO:0035685, GO:0035020, GO:0033628, GO:0032956, GO:0030036, GO:0030010, GO:0021987, GO:0021766, GO:0019221, GO:0016358, GO:0014911, GO:0009966, GO:0008360, GO:0006629, GO:0006357, GO:0001878, GO:0001764, GO:0000186, regulation of T cell migration, negative regulation of cell motility, negative regulation of cell motility, cellular response to endothelin, cellular response to insulin-like growth factor stimulus, cellular response to nerve growth factor stimulus, regulation of intracellular signal transduction, positive regulation of substrate adhesion-dependent cell spreading, cerebellar neuron development, activation of GTPase activity, cellular response to nitric oxide, cellular response to transforming growth factor beta stimulus, response to cholecystokinin, negative regulation of wound healing, negative regulation of wound healing, cell chemotaxis, regulation of dendrite development, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, negative regulation of natural killer cell mediated cytotoxicity, regulation of protein binding, regulation of GTPase activity, response to hydrogen peroxide, Fc-gamma receptor signaling pathway involved in phagocytosis, reelin-mediated signaling pathway, response to hepatocyte growth factor, helper T cell diapedesis, regulation of Rac protein signal transduction, regulation of cell adhesion mediated by integrin, regulation of actin cytoskeleton organization, actin cytoskeleton organization, establishment of cell polarity, cerebral cortex development, hippocampus development, cytokine-mediated signaling pathway, dendrite development, positive regulation of smooth muscle cell migration, regulation of signal transduction, regulation of cell shape, lipid metabolic process, regulation of transcription by RNA polymerase II, response to yeast, neuron migration, activation of MAPKK activity, 449 270 331 119 119 180 103 99 82 ENSG00000167194 chr16 30023334 30027736 + C16orf92 protein_coding 146378 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0009566, GO:0007342, fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000167195 chr15 75258599 75270199 + GOLGA6C protein_coding 653641 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 6 2 0 2 1 0 ENSG00000167196 chr15 75903859 75942510 + FBXO22 protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. 26263 GO:0030018, GO:0005829, GO:0005634, Z disc, cytosol, nucleus, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0048742, GO:0043687, GO:0032436, GO:0009267, GO:0006913, GO:0006511, GO:0006464, GO:0000209, GO:0000209, regulation of skeletal muscle fiber development, post-translational protein modification, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, cellular response to starvation, nucleocytoplasmic transport, ubiquitin-dependent protein catabolic process, cellular protein modification process, protein polyubiquitination, protein polyubiquitination, 44 55 67 68 72 85 61 44 59 ENSG00000167202 chr15 77984036 78077724 - TBC1D2B protein_coding 23102 GO:0005829, cytosol, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0006886, regulation of cilium assembly, activation of GTPase activity, intracellular protein transport, 716 651 686 646 753 705 643 566 619 ENSG00000167207 chr16 50693588 50734041 + NOD2 protein_coding This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. 64127 GO:0046658, GO:0045335, GO:0032991, GO:0031982, GO:0016323, GO:0009986, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005739, GO:0005737, GO:0005737, anchored component of plasma membrane, phagocytic vesicle, protein-containing complex, vesicle, basolateral plasma membrane, cell surface, plasma membrane, cytoskeleton, cytosol, cytosol, cytosol, Golgi apparatus, mitochondrion, cytoplasm, cytoplasm, GO:0051879, GO:0050700, GO:0044877, GO:0042834, GO:0038187, GO:0032500, GO:0030544, GO:0019901, GO:0019899, GO:0005524, GO:0005515, GO:0003779, Hsp90 protein binding, CARD domain binding, protein-containing complex binding, peptidoglycan binding, pattern recognition receptor activity, muramyl dipeptide binding, Hsp70 protein binding, protein kinase binding, enzyme binding, ATP binding, protein binding, actin binding, GO:2000363, GO:2000110, GO:1902523, GO:1901224, GO:1900017, GO:0071225, GO:0071225, GO:0071222, GO:0070498, GO:0070431, GO:0070423, GO:0070374, GO:0060585, GO:0051770, GO:0051353, GO:0051092, GO:0051092, GO:0051092, GO:0050871, GO:0050727, GO:0050679, GO:0046645, GO:0046330, GO:0045944, GO:0045747, GO:0045087, GO:0045087, GO:0043552, GO:0043406, GO:0043123, GO:0043123, GO:0042742, GO:0042742, GO:0035556, GO:0035556, GO:0032874, GO:0032760, GO:0032760, GO:0032757, GO:0032755, GO:0032740, GO:0032733, GO:0032731, GO:0032731, GO:0032498, GO:0032495, GO:0032495, GO:0032495, GO:0030277, GO:0016045, GO:0009595, GO:0007254, GO:0006952, GO:0002830, GO:0002606, GO:0002367, GO:0002221, GO:0000187, positive regulation of prostaglandin-E synthase activity, negative regulation of macrophage apoptotic process, positive regulation of protein K63-linked ubiquitination, positive regulation of NIK/NF-kappaB signaling, positive regulation of cytokine production involved in inflammatory response, cellular response to muramyl dipeptide, cellular response to muramyl dipeptide, cellular response to lipopolysaccharide, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing 2 signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of prostaglandin-endoperoxide synthase activity, positive regulation of nitric-oxide synthase biosynthetic process, positive regulation of oxidoreductase activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of B cell activation, regulation of inflammatory response, positive regulation of epithelial cell proliferation, positive regulation of gamma-delta T cell activation, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of Notch signaling pathway, innate immune response, innate immune response, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, defense response to bacterium, defense response to bacterium, intracellular signal transduction, intracellular signal transduction, positive regulation of stress-activated MAPK cascade, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-17 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 beta production, positive regulation of interleukin-1 beta production, detection of muramyl dipeptide, response to muramyl dipeptide, response to muramyl dipeptide, response to muramyl dipeptide, maintenance of gastrointestinal epithelium, detection of bacterium, detection of biotic stimulus, JNK cascade, defense response, positive regulation of type 2 immune response, positive regulation of dendritic cell antigen processing and presentation, cytokine production involved in immune response, pattern recognition receptor signaling pathway, activation of MAPK activity, 265 1963 2839 167 1971 1811 159 1385 1704 ENSG00000167208 chr16 50666300 50681353 - SNX20 protein_coding SNX20 interacts with the cytoplasmic domain of PSGL1 (SELPLG; MIM 600738) and cycles PSGL1 into endosomes.[supplied by OMIM, Feb 2010]. 124460 GO:0031901, GO:0005886, GO:0005654, early endosome membrane, plasma membrane, nucleoplasm, GO:0032266, GO:0005546, GO:0005515, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0015031, protein transport, 938 1058 2069 260 587 635 406 493 474 ENSG00000167210 chr18 46476972 46657220 - LOXHD1 protein_coding This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]. 125336 GO:0032420, stereocilium, GO:0020037, GO:0004096, heme binding, catalase activity, GO:0098869, GO:0055114, GO:0007605, cellular oxidant detoxification, oxidation-reduction process, sensory perception of sound, 75 171 250 46 117 178 67 124 178 ENSG00000167216 chr18 46917492 47102243 + KATNAL2 protein_coding 83473 GO:0005874, GO:0005819, GO:0005737, GO:0005634, GO:0000922, microtubule, spindle, cytoplasm, nucleus, spindle pole, GO:0016887, GO:0016853, GO:0008568, GO:0008017, GO:0005524, GO:0005515, ATPase activity, isomerase activity, microtubule-severing ATPase activity, microtubule binding, ATP binding, protein binding, GO:0051013, GO:0031122, microtubule severing, cytoplasmic microtubule organization, 3 1 7 11 0 5 10 3 4 ENSG00000167220 chr18 47107403 47150520 - HDHD2 protein_coding 84064 GO:0070062, extracellular exosome, GO:0046872, GO:0019899, GO:0016791, GO:0005515, metal ion binding, enzyme binding, phosphatase activity, protein binding, GO:0016311, GO:0008150, dephosphorylation, biological_process, 5 9 13 6 7 26 9 4 11 ENSG00000167232 chr19 23304991 23395560 - ZNF91 protein_coding The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010]. 7644 GO:0005634, GO:0005634, nucleus, nucleus, GO:0008270, GO:0003700, GO:0003700, GO:0001228, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070895, GO:0045944, GO:0045892, GO:0006357, negative regulation of transposon integration, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 34 22 61 101 35 57 55 18 90 ENSG00000167244 chr11 2129112 2149603 - IGF2 protein_coding This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]. 3481 GO:0031093, GO:0005615, GO:0005576, platelet alpha granule lumen, extracellular space, extracellular region, GO:0048018, GO:0043539, GO:0043539, GO:0008083, GO:0008083, GO:0005515, GO:0005179, GO:0005178, GO:0005159, GO:0005159, GO:0005158, receptor ligand activity, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, growth factor activity, growth factor activity, protein binding, hormone activity, integrin binding, insulin-like growth factor receptor binding, insulin-like growth factor receptor binding, insulin receptor binding, GO:2000467, GO:2000467, GO:1905564, GO:0071902, GO:0060669, GO:0051897, GO:0051781, GO:0051148, GO:0051147, GO:0051147, GO:0051146, GO:0050731, GO:0050731, GO:0046628, GO:0046628, GO:0045944, GO:0045840, GO:0045725, GO:0044267, GO:0043410, GO:0043410, GO:0043085, GO:0042104, GO:0042104, GO:0040018, GO:0038028, GO:0031056, GO:0031017, GO:0009887, GO:0008286, GO:0008284, GO:0008284, GO:0007275, GO:0006355, GO:0006349, GO:0006006, GO:0002576, GO:0001934, GO:0001892, GO:0001701, GO:0001649, GO:0001501, GO:0000122, positive regulation of glycogen (starch) synthase activity, positive regulation of glycogen (starch) synthase activity, positive regulation of vascular endothelial cell proliferation, positive regulation of protein serine/threonine kinase activity, embryonic placenta morphogenesis, positive regulation of protein kinase B signaling, positive regulation of cell division, negative regulation of muscle cell differentiation, regulation of muscle cell differentiation, regulation of muscle cell differentiation, striated muscle cell differentiation, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of insulin receptor signaling pathway, positive regulation of insulin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic nuclear division, positive regulation of glycogen biosynthetic process, cellular protein metabolic process, positive regulation of MAPK cascade, positive regulation of MAPK cascade, positive regulation of catalytic activity, positive regulation of activated T cell proliferation, positive regulation of activated T cell proliferation, positive regulation of multicellular organism growth, insulin receptor signaling pathway via phosphatidylinositol 3-kinase, regulation of histone modification, exocrine pancreas development, animal organ morphogenesis, insulin receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, multicellular organism development, regulation of transcription, DNA-templated, regulation of gene expression by genetic imprinting, glucose metabolic process, platelet degranulation, positive regulation of protein phosphorylation, embryonic placenta development, in utero embryonic development, osteoblast differentiation, skeletal system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000167257 chr11 117232625 117286445 + RNF214 protein_coding 257160 GO:0046872, GO:0004842, metal ion binding, ubiquitin-protein transferase activity, GO:0016567, protein ubiquitination, 35 48 37 57 37 35 49 47 58 ENSG00000167258 chr17 39461511 39564907 + CDK12 protein_coding 51755 GO:0019908, GO:0016607, GO:0008024, GO:0005654, GO:0005654, GO:0005634, GO:0002944, GO:0000785, GO:0000307, nuclear cyclin-dependent protein kinase holoenzyme complex, nuclear speck, cyclin/CDK positive transcription elongation factor complex, nucleoplasm, nucleoplasm, nucleus, cyclin K-CDK12 complex, chromatin, cyclin-dependent protein kinase holoenzyme complex, GO:0030332, GO:0030332, GO:0019901, GO:0008353, GO:0008353, GO:0005524, GO:0005515, GO:0004693, GO:0004672, cyclin binding, cyclin binding, protein kinase binding, RNA polymerase II CTD heptapeptide repeat kinase activity, RNA polymerase II CTD heptapeptide repeat kinase activity, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein kinase activity, GO:2000737, GO:0070816, GO:0070816, GO:0051726, GO:0046777, GO:0043484, GO:0043405, GO:0032968, GO:0008380, GO:0006468, GO:0006397, GO:0006368, negative regulation of stem cell differentiation, phosphorylation of RNA polymerase II C-terminal domain, phosphorylation of RNA polymerase II C-terminal domain, regulation of cell cycle, protein autophosphorylation, regulation of RNA splicing, regulation of MAP kinase activity, positive regulation of transcription elongation from RNA polymerase II promoter, RNA splicing, protein phosphorylation, mRNA processing, transcription elongation from RNA polymerase II promoter, 1752 1519 1973 647 759 935 904 617 718 ENSG00000167261 chr16 67987394 68000586 - DPEP2 protein_coding DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008]. 64174 GO:0031225, anchored component of membrane, GO:0070573, GO:0046872, GO:0016805, metallodipeptidase activity, metal ion binding, dipeptidase activity, GO:0006691, GO:0006629, GO:0006508, leukotriene metabolic process, lipid metabolic process, proteolysis, 2326 4298 3098 1836 4517 2660 2235 3605 2339 ENSG00000167264 chr16 67987746 68079320 + DUS2 protein_coding This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]. 54920 GO:0005829, GO:0005783, GO:0005737, cytosol, endoplasmic reticulum, cytoplasm, GO:0102264, GO:0070402, GO:0050660, GO:0017150, GO:0017150, GO:0010181, GO:0005515, GO:0004860, GO:0003725, tRNA-dihydrouridine20 synthase activity, NADPH binding, flavin adenine dinucleotide binding, tRNA dihydrouridine synthase activity, tRNA dihydrouridine synthase activity, FMN binding, protein binding, protein kinase inhibitor activity, double-stranded RNA binding, GO:0060548, GO:0055114, GO:0006469, GO:0002943, GO:0002943, negative regulation of cell death, oxidation-reduction process, negative regulation of protein kinase activity, tRNA dihydrouridine synthesis, tRNA dihydrouridine synthesis, 542 978 759 542 1195 752 625 995 620 ENSG00000167272 chr12 120578764 120581398 - POP5 protein_coding 51367 GO:0030681, GO:0005730, GO:0005655, GO:0005654, GO:0000172, GO:0000172, multimeric ribonuclease P complex, nucleolus, nucleolar ribonuclease P complex, nucleoplasm, ribonuclease MRP complex, ribonuclease MRP complex, GO:0033204, GO:0005515, GO:0004526, GO:0004526, ribonuclease P RNA binding, protein binding, ribonuclease P activity, ribonuclease P activity, GO:0090502, GO:0008033, GO:0006364, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, tRNA processing, rRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, 12 13 17 41 21 77 36 17 36 ENSG00000167280 chr17 79074939 79088599 + ENGASE protein_coding This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012]. 64772 GO:0005829, cytosol, GO:0033925, GO:0004553, mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0006517, GO:0006457, protein deglycosylation, protein folding, 164 219 160 338 329 123 255 186 133 ENSG00000167281 chr17 79089345 79516148 - RBFOX3 protein_coding This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]. 146713 GO:0043204, GO:0005737, GO:0005634, perikaryon, cytoplasm, nucleus, GO:0003729, GO:0003677, mRNA binding, DNA binding, GO:0008380, GO:0007399, GO:0006397, GO:0000381, RNA splicing, nervous system development, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, 0 0 3 6 2 3 0 1 1 ENSG00000167283 chr11 118401154 118431496 + ATP5MG protein_coding Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]. 10632 GO:0005753, GO:0005743, GO:0005739, GO:0000276, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, protein binding, GO:0042776, GO:0042776, GO:0042407, GO:0015986, GO:0006754, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, ATP biosynthetic process, 66 88 117 78 98 116 99 94 83 ENSG00000167286 chr11 118338954 118342744 - CD3D protein_coding The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]. 915 GO:0042105, GO:0042101, GO:0042101, GO:0030665, GO:0016021, GO:0009897, GO:0005886, GO:0005737, alpha-beta T cell receptor complex, T cell receptor complex, T cell receptor complex, clathrin-coated vesicle membrane, integral component of membrane, external side of plasma membrane, plasma membrane, cytoplasm, GO:0046982, GO:0042802, GO:0005515, GO:0004888, GO:0004888, protein heterodimerization activity, identical protein binding, protein binding, transmembrane signaling receptor activity, transmembrane signaling receptor activity, GO:0061024, GO:0050852, GO:0050776, GO:0045059, GO:0045059, GO:0007166, GO:0007166, GO:0002250, membrane organization, T cell receptor signaling pathway, regulation of immune response, positive thymic T cell selection, positive thymic T cell selection, cell surface receptor signaling pathway, cell surface receptor signaling pathway, adaptive immune response, 60 40 164 226 69 303 162 77 194 ENSG00000167291 chr17 79932343 80035848 - TBC1D16 protein_coding 125058 GO:0005829, GO:0005769, GO:0005769, cytosol, early endosome, early endosome, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902017, GO:0090630, GO:0006886, GO:0001919, regulation of cilium assembly, activation of GTPase activity, intracellular protein transport, regulation of receptor recycling, 2 3 5 4 5 8 7 1 11 ENSG00000167302 chr17 81228277 81239091 - TEPSIN protein_coding 146705 GO:0032588, GO:0031965, GO:0031312, GO:0031312, GO:0030662, GO:0030124, GO:0016607, GO:0005829, GO:0005794, GO:0005737, trans-Golgi network membrane, nuclear membrane, extrinsic component of organelle membrane, extrinsic component of organelle membrane, coated vesicle membrane, AP-4 adaptor complex, nuclear speck, cytosol, Golgi apparatus, cytoplasm, GO:0005515, protein binding, 528 601 577 702 844 811 745 677 609 ENSG00000167306 chr18 49822813 50195093 - MYO5B protein_coding The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]. 4645 GO:0070062, GO:0055037, GO:0045179, GO:0032991, GO:0031982, GO:0030659, GO:0016459, GO:0015629, GO:0005737, extracellular exosome, recycling endosome, apical cortex, protein-containing complex, vesicle, cytoplasmic vesicle membrane, myosin complex, actin cytoskeleton, cytoplasm, GO:0051015, GO:0031267, GO:0030898, GO:0005524, GO:0005516, GO:0005515, GO:0000146, GO:0000146, actin filament binding, small GTPase binding, actin-dependent ATPase activity, ATP binding, calmodulin binding, protein binding, microfilament motor activity, microfilament motor activity, GO:0030050, GO:0016197, GO:0016192, GO:0015031, GO:0007015, GO:0003091, vesicle transport along actin filament, endosomal transport, vesicle-mediated transport, protein transport, actin filament organization, renal water homeostasis, 0 0 0 6 1 0 1 2 15 ENSG00000167311 chr11 3638503 3642316 - ART5 protein_coding The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 116969 GO:0005576, extracellular region, GO:0106275, GO:0106274, GO:0003950, NADP+-protein-arginine ADP-ribosyltransferase activity, NAD+-protein-arginine ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, GO:0018120, peptidyl-arginine ADP-ribosylation, 0 0 0 0 0 0 0 0 0 ENSG00000167315 chr18 49782167 49813960 - ACAA2 protein_coding The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]. 10449 GO:0005759, GO:0005739, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0102991, GO:0047617, GO:0016290, GO:0005515, GO:0003988, GO:0003988, GO:0003986, GO:0003985, GO:0003985, GO:0003723, myristoyl-CoA hydrolase activity, acyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, protein binding, acetyl-CoA C-acyltransferase activity, acetyl-CoA C-acyltransferase activity, acetyl-CoA hydrolase activity, acetyl-CoA C-acetyltransferase activity, acetyl-CoA C-acetyltransferase activity, RNA binding, GO:1902109, GO:1901029, GO:0071456, GO:0006695, GO:0006635, GO:0006635, GO:0006635, negative regulation of mitochondrial membrane permeability involved in apoptotic process, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, cellular response to hypoxia, cholesterol biosynthetic process, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, 14 20 51 53 17 62 26 19 30 ENSG00000167323 chr11 3854527 4093210 + STIM1 protein_coding This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]. 6786 GO:0044853, GO:0033017, GO:0032541, GO:0032541, GO:0030176, GO:0005887, GO:0005886, GO:0005886, GO:0005874, GO:0005789, GO:0005783, GO:0005783, plasma membrane raft, sarcoplasmic reticulum membrane, cortical endoplasmic reticulum, cortical endoplasmic reticulum, integral component of endoplasmic reticulum membrane, integral component of plasma membrane, plasma membrane, plasma membrane, microtubule, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0051010, GO:0042802, GO:0005515, GO:0005509, GO:0005509, GO:0005246, GO:0005246, GO:0005246, GO:0002020, microtubule plus-end binding, identical protein binding, protein binding, calcium ion binding, calcium ion binding, calcium channel regulator activity, calcium channel regulator activity, calcium channel regulator activity, protease binding, GO:2001256, GO:1903779, GO:0070166, GO:0051924, GO:0045766, GO:0045762, GO:0032237, GO:0032237, GO:0006874, GO:0005513, GO:0002115, GO:0002115, regulation of store-operated calcium entry, regulation of cardiac conduction, enamel mineralization, regulation of calcium ion transport, positive regulation of angiogenesis, positive regulation of adenylate cyclase activity, activation of store-operated calcium channel activity, activation of store-operated calcium channel activity, cellular calcium ion homeostasis, detection of calcium ion, store-operated calcium entry, store-operated calcium entry, 817 744 1311 504 680 955 643 491 776 ENSG00000167325 chr11 4094707 4138876 + RRM1 protein_coding This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 6240 GO:0043025, GO:0042995, GO:0005971, GO:0005829, GO:0005829, GO:0005635, neuronal cell body, cell projection, ribonucleoside-diphosphate reductase complex, cytosol, cytosol, nuclear envelope, GO:0097718, GO:0061731, GO:0042802, GO:0005524, GO:0005515, GO:0004748, GO:0004748, disordered domain specific binding, ribonucleoside-diphosphate reductase activity, identical protein binding, ATP binding, protein binding, ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor, ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor, GO:0060041, GO:0055114, GO:0051290, GO:0021846, GO:0015949, GO:0010212, GO:0009263, GO:0009263, GO:0008584, GO:0006260, GO:0006206, GO:0000278, retina development in camera-type eye, oxidation-reduction process, protein heterotetramerization, cell proliferation in forebrain, nucleobase-containing small molecule interconversion, response to ionizing radiation, deoxyribonucleotide biosynthetic process, deoxyribonucleotide biosynthetic process, male gonad development, DNA replication, pyrimidine nucleobase metabolic process, mitotic cell cycle, 75 47 128 104 26 152 128 32 83 ENSG00000167332 chr11 4680171 4697854 - OR51E2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81285 GO:0043229, GO:0031901, GO:0016021, GO:0005886, GO:0005886, GO:0005886, intracellular organelle, early endosome membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0004984, GO:0004984, GO:0004984, GO:0004930, GO:0003707, signaling receptor activity, olfactory receptor activity, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, steroid hormone receptor activity, GO:1900135, GO:0097325, GO:0071398, GO:0050911, GO:0045777, GO:0043950, GO:0043401, GO:0030318, GO:0016477, GO:0007186, positive regulation of renin secretion into blood stream, melanocyte proliferation, cellular response to fatty acid, detection of chemical stimulus involved in sensory perception of smell, positive regulation of blood pressure, positive regulation of cAMP-mediated signaling, steroid hormone mediated signaling pathway, melanocyte differentiation, cell migration, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000167333 chr11 4598672 4608259 - TRIM68 protein_coding This gene encodes a member of the tripartite motif-containing protein family, whose members are characterized by a 'really interesting new gene' (RING) finger domain, a zinc-binding B-box motif, and a coiled-coil region. Members of this family function as E3 ubiquitin ligases and are involved in a broad range of biological processes. This gene regulates the activation of nuclear receptors, such as androgen receptor, and has been implicated in development of prostate cancer cells, where its expression increases in response to a downregulation of microRNAs. In addition, this gene participates in viral defense regulation as a negative regulator of interferon-beta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 55128 GO:0048471, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, perinuclear region of cytoplasm, cytosol, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0061630, GO:0050681, GO:0042803, GO:0042802, GO:0035035, GO:0019901, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, androgen receptor binding, protein homodimerization activity, identical protein binding, histone acetyltransferase binding, protein kinase binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0060765, GO:0060333, GO:0051865, GO:0051092, GO:0046596, GO:0045087, GO:0043123, GO:0032880, GO:0016567, GO:0010508, GO:0010468, GO:0000209, regulation of androgen receptor signaling pathway, interferon-gamma-mediated signaling pathway, protein autoubiquitination, positive regulation of NF-kappaB transcription factor activity, regulation of viral entry into host cell, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of protein localization, protein ubiquitination, positive regulation of autophagy, regulation of gene expression, protein polyubiquitination, 16 13 39 35 10 15 19 12 16 ENSG00000167346 chr11 4704927 4992429 + MMP26 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme may degrade collagen type IV, fibronectin, fibrinogen, and beta-casein, and activate matrix metalloproteinase-9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The encoded protein may promote cell invasion in multiple human cancers. [provided by RefSeq, May 2016]. 56547 GO:0031012, extracellular matrix, GO:0008270, GO:0004222, zinc ion binding, metalloendopeptidase activity, GO:0050728, GO:0030574, GO:0030198, GO:0006508, negative regulation of inflammatory response, collagen catabolic process, extracellular matrix organization, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000167355 chr11 5303444 5505652 - OR51B5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 282763 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000167359 chr11 5440570 5441514 - OR51I1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390063 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000167360 chr11 5422111 5423206 + OR51Q1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390061 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000167363 chr17 82735575 82751197 + FN3K protein_coding A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012]. 64122 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0102194, GO:0102193, GO:0030387, GO:0030387, GO:0030387, GO:0016301, GO:0016301, GO:0005524, protein-fructosamine 3-kinase activity, protein-ribulosamine 3-kinase activity, fructosamine-3-kinase activity, fructosamine-3-kinase activity, fructosamine-3-kinase activity, kinase activity, kinase activity, ATP binding, GO:0043687, GO:0036525, GO:0030855, GO:0030393, GO:0030389, GO:0016310, post-translational protein modification, protein deglycation, epithelial cell differentiation, fructoselysine metabolic process, fructosamine metabolic process, phosphorylation, 2 5 2 5 2 3 2 3 1 ENSG00000167371 chr16 29811382 29815892 + PRRT2 protein_coding This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 112476 GO:0098839, GO:0098793, GO:0043679, GO:0043197, GO:0042734, GO:0031982, GO:0030672, GO:0016021, GO:0016020, GO:0008021, GO:0005886, postsynaptic density membrane, presynapse, axon terminus, dendritic spine, presynaptic membrane, vesicle, synaptic vesicle membrane, integral component of membrane, membrane, synaptic vesicle, plasma membrane, GO:0017124, GO:0017075, GO:0005515, SH3 domain binding, syntaxin-1 binding, protein binding, GO:1905513, GO:0050884, GO:0035544, GO:0031629, negative regulation of short-term synaptic potentiation, neuromuscular process controlling posture, negative regulation of SNARE complex assembly, synaptic vesicle fusion to presynaptic active zone membrane, 5 6 6 13 11 20 5 5 0 ENSG00000167377 chr16 71447597 71463095 - ZNF23 protein_coding 7571 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 2 0 0 0 1 5 0 0 ENSG00000167378 chr19 43584369 43596135 - IRGQ protein_coding 126298 GO:0005525, GO:0005515, GTP binding, protein binding, 480 748 839 495 815 1382 847 738 1264 ENSG00000167380 chr19 44165073 44178381 + ZNF226 protein_coding 7769 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 76 73 61 67 85 82 73 106 97 ENSG00000167384 chr19 44474428 44500524 - ZNF180 protein_coding Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]. 7733 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 57 63 41 74 115 87 51 67 52 ENSG00000167390 chr20 23989292 23990454 + POM121L3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000167393 chrX 333963 386955 - PPP2R3B protein_coding Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. [provided by RefSeq, Apr 2010]. 28227 GO:0005654, GO:0005654, GO:0005634, GO:0000159, GO:0000159, nucleoplasm, nucleoplasm, nucleus, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0019888, GO:0019888, GO:0005515, GO:0005509, protein phosphatase regulator activity, protein phosphatase regulator activity, protein binding, calcium ion binding, GO:0043666, GO:0007050, GO:0006470, GO:0006470, regulation of phosphoprotein phosphatase activity, cell cycle arrest, protein dephosphorylation, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000167394 chr16 31060843 31074320 - ZNF668 protein_coding 79759 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0001227, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 157 231 177 287 413 328 277 234 264 ENSG00000167395 chr16 31074422 31084196 + ZNF646 protein_coding 9726 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1281 1504 1511 2033 2595 2266 2626 2253 1932 ENSG00000167397 chr16 31090842 31095980 - VKORC1 protein_coding This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 79001 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0048038, GO:0047058, GO:0047057, GO:0047057, GO:0005515, quinone binding, vitamin-K-epoxide reductase (warfarin-insensitive) activity, vitamin-K-epoxide reductase (warfarin-sensitive) activity, vitamin-K-epoxide reductase (warfarin-sensitive) activity, protein binding, GO:0060348, GO:0055114, GO:0046677, GO:0042373, GO:0042373, GO:0042373, GO:0030193, GO:0017187, GO:0017187, GO:0017144, GO:0014070, GO:0010243, GO:0007596, GO:0007596, bone development, oxidation-reduction process, response to antibiotic, vitamin K metabolic process, vitamin K metabolic process, vitamin K metabolic process, regulation of blood coagulation, peptidyl-glutamic acid carboxylation, peptidyl-glutamic acid carboxylation, drug metabolic process, response to organic cyclic compound, response to organonitrogen compound, blood coagulation, blood coagulation, 21 23 9 9 11 7 23 17 17 ENSG00000167414 chr19 46634076 46634685 - GNG8 protein_coding 94235 GO:0031680, GO:0005886, GO:0005834, G-protein beta/gamma-subunit complex, plasma membrane, heterotrimeric G-protein complex, GO:0031681, GO:0005515, GO:0003924, G-protein beta-subunit binding, protein binding, GTPase activity, GO:0071444, GO:0043584, GO:0035176, GO:0007399, GO:0007186, GO:0007186, cellular response to pheromone, nose development, social behavior, nervous system development, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 7 0 0 0 ENSG00000167419 chr17 58218548 58268518 + LPO protein_coding This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 4025 GO:0070062, GO:0016323, GO:0005737, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, basolateral plasma membrane, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0046872, GO:0036393, GO:0036393, GO:0020037, GO:0004601, metal ion binding, thiocyanate peroxidase activity, thiocyanate peroxidase activity, heme binding, peroxidase activity, GO:0098869, GO:0055114, GO:0045454, GO:0042744, GO:0042742, GO:0042742, GO:0018969, GO:0006979, GO:0001580, cellular oxidant detoxification, oxidation-reduction process, cell redox homeostasis, hydrogen peroxide catabolic process, defense response to bacterium, defense response to bacterium, thiocyanate metabolic process, response to oxidative stress, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 1 4 8 1 0 3 ENSG00000167434 chr17 60149936 60170899 + CA4 protein_coding Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]. 762 GO:0070062, GO:0070062, GO:0048471, GO:0031526, GO:0031362, GO:0030667, GO:0030658, GO:0016324, GO:0016323, GO:0016020, GO:0009986, GO:0005886, GO:0005886, GO:0005886, GO:0005802, GO:0005794, GO:0005793, GO:0005791, extracellular exosome, extracellular exosome, perinuclear region of cytoplasm, brush border membrane, anchored component of external side of plasma membrane, secretory granule membrane, transport vesicle membrane, apical plasma membrane, basolateral plasma membrane, membrane, cell surface, plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, rough endoplasmic reticulum, GO:0016836, GO:0008270, GO:0005515, GO:0004089, hydro-lyase activity, zinc ion binding, protein binding, carbonate dehydratase activity, GO:0015701, GO:0015701, GO:0006730, bicarbonate transport, bicarbonate transport, one-carbon metabolic process, 476 677 720 240 910 635 406 695 761 ENSG00000167447 chr17 59209400 59215247 + SMG8 protein_coding 55181 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0005515, protein binding, GO:0045859, GO:0000184, GO:0000184, GO:0000184, regulation of protein kinase activity, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 20 12 36 19 16 11 6 13 15 ENSG00000167459 chr19 16031307 16042116 + LINC00905 processed_transcript 148231 0 0 0 0 0 0 0 0 0 ENSG00000167460 chr19 16067021 16103005 + TPM4 protein_coding This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]. 7171 GO:0070062, GO:0030863, GO:0016020, GO:0005925, GO:0005884, GO:0005862, GO:0005856, GO:0005829, GO:0002102, GO:0001725, extracellular exosome, cortical cytoskeleton, membrane, focal adhesion, actin filament, muscle thin filament tropomyosin, cytoskeleton, cytosol, podosome, stress fiber, GO:0051015, GO:0051015, GO:0046982, GO:0042803, GO:0042802, GO:0008307, GO:0005515, GO:0005509, actin filament binding, actin filament binding, protein heterodimerization activity, protein homodimerization activity, identical protein binding, structural constituent of muscle, protein binding, calcium ion binding, GO:0030049, GO:0007015, GO:0006936, GO:0006936, GO:0001649, muscle filament sliding, actin filament organization, muscle contraction, muscle contraction, osteoblast differentiation, 5199 4070 6746 3119 3478 3821 3363 2616 3021 ENSG00000167461 chr19 16111629 16134234 + RAB8A protein_coding The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008]. 4218 GO:0097730, GO:0097546, GO:0070062, GO:0055038, GO:0055038, GO:0045335, GO:0043197, GO:0043025, GO:0036064, GO:0032588, GO:0030670, GO:0030496, GO:0030140, GO:0014069, GO:0008021, GO:0005929, GO:0005929, GO:0005886, GO:0005829, GO:0005814, GO:0005813, GO:0005768, GO:0000139, non-motile cilium, ciliary base, extracellular exosome, recycling endosome membrane, recycling endosome membrane, phagocytic vesicle, dendritic spine, neuronal cell body, ciliary basal body, trans-Golgi network membrane, phagocytic vesicle membrane, midbody, trans-Golgi network transport vesicle, postsynaptic density, synaptic vesicle, cilium, cilium, plasma membrane, cytosol, centriole, centrosome, endosome, Golgi membrane, GO:0031489, GO:0031267, GO:0019901, GO:0019003, GO:0005525, GO:0005515, GO:0003924, myosin V binding, small GTPase binding, protein kinase binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:0098969, GO:0072659, GO:0072659, GO:0060271, GO:0060271, GO:0051223, GO:0048210, GO:0048210, GO:0048169, GO:0043687, GO:0032869, GO:0032869, GO:0017157, GO:0010506, GO:0009306, GO:0007409, GO:0006914, GO:0006904, GO:0006904, neurotransmitter receptor transport to postsynaptic membrane, protein localization to plasma membrane, protein localization to plasma membrane, cilium assembly, cilium assembly, regulation of protein transport, Golgi vesicle fusion to target membrane, Golgi vesicle fusion to target membrane, regulation of long-term neuronal synaptic plasticity, post-translational protein modification, cellular response to insulin stimulus, cellular response to insulin stimulus, regulation of exocytosis, regulation of autophagy, protein secretion, axonogenesis, autophagy, vesicle docking involved in exocytosis, vesicle docking involved in exocytosis, 1459 1404 1533 703 1143 864 818 1065 846 ENSG00000167468 chr19 1103926 1106791 + GPX4 protein_coding The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018]. 2879 GO:0070062, GO:0032991, GO:0005829, GO:0005829, GO:0005739, GO:0005739, GO:0005739, GO:0005654, GO:0005635, GO:0005634, GO:0005634, extracellular exosome, protein-containing complex, cytosol, cytosol, mitochondrion, mitochondrion, mitochondrion, nucleoplasm, nuclear envelope, nucleus, nucleus, GO:0047066, GO:0047066, GO:0047066, GO:0047066, GO:0042802, GO:0008430, GO:0005515, GO:0004602, GO:0004602, GO:0004602, GO:0004601, phospholipid-hydroperoxide glutathione peroxidase activity, phospholipid-hydroperoxide glutathione peroxidase activity, phospholipid-hydroperoxide glutathione peroxidase activity, phospholipid-hydroperoxide glutathione peroxidase activity, identical protein binding, selenium binding, protein binding, glutathione peroxidase activity, glutathione peroxidase activity, glutathione peroxidase activity, peroxidase activity, GO:0110076, GO:0098869, GO:0055114, GO:0051258, GO:0050727, GO:0042759, GO:0032355, GO:0019372, GO:0019372, GO:0019369, GO:0007568, GO:0007283, GO:0007275, GO:0006979, GO:0006749, GO:0006644, GO:0006325, negative regulation of ferroptosis, cellular oxidant detoxification, oxidation-reduction process, protein polymerization, regulation of inflammatory response, long-chain fatty acid biosynthetic process, response to estradiol, lipoxygenase pathway, lipoxygenase pathway, arachidonic acid metabolic process, aging, spermatogenesis, multicellular organism development, response to oxidative stress, glutathione metabolic process, phospholipid metabolic process, chromatin organization, 400 402 624 255 369 467 297 416 390 ENSG00000167470 chr19 1248553 1259140 + MIDN protein_coding 90007 GO:0005829, GO:0005737, GO:0005730, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleolus, nucleus, nucleus, GO:0019900, GO:0005515, GO:0003674, kinase binding, protein binding, molecular_function, GO:0046676, GO:0033132, GO:0008150, negative regulation of insulin secretion, negative regulation of glucokinase activity, biological_process, 7708 9085 8459 13309 20903 20869 15265 17428 18181 ENSG00000167476 chr19 2252252 2269759 - JSRP1 protein_coding The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]. 126306 GO:0033017, GO:0016529, sarcoplasmic reticulum membrane, sarcoplasmic reticulum, GO:0005515, protein binding, GO:0060314, GO:0003009, GO:0003009, regulation of ryanodine-sensitive calcium-release channel activity, skeletal muscle contraction, skeletal muscle contraction, 3481 3588 5170 1341 2911 2317 1743 2821 2370 ENSG00000167483 chr19 17523301 17553839 + FAM129C protein_coding 199786 GO:0005515, protein binding, 29 56 51 52 107 65 64 96 51 ENSG00000167487 chr19 18636965 18671714 + KLHL26 protein_coding 55295 GO:0005515, protein binding, 40 46 45 36 35 78 48 24 61 ENSG00000167491 chr19 19385826 19508931 + GATAD2A protein_coding 54815 GO:0016607, GO:0016581, GO:0016581, GO:0005654, GO:0005634, nuclear speck, NuRD complex, NuRD complex, nucleoplasm, nucleus, GO:0043565, GO:0030674, GO:0008270, GO:0005515, sequence-specific DNA binding, protein-macromolecule adaptor activity, zinc ion binding, protein binding, GO:0045892, GO:0006306, GO:0000122, negative regulation of transcription, DNA-templated, DNA methylation, negative regulation of transcription by RNA polymerase II, 1706 1947 2151 1274 1786 1503 1345 1324 1309 ENSG00000167494 chr17 18497095 18506313 - NOS2P2 transcribed_unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000167508 chr16 88651935 88663161 - MVD protein_coding The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]. 4597 GO:0005829, GO:0005829, GO:0005829, GO:0005777, cytosol, cytosol, cytosol, peroxisome, GO:0042803, GO:0030544, GO:0005524, GO:0004163, GO:0004163, protein homodimerization activity, Hsp70 protein binding, ATP binding, diphosphomevalonate decarboxylase activity, diphosphomevalonate decarboxylase activity, GO:0045540, GO:0019287, GO:0008299, GO:0008284, GO:0006695, GO:0006695, GO:0006695, GO:0006489, regulation of cholesterol biosynthetic process, isopentenyl diphosphate biosynthetic process, mevalonate pathway, isoprenoid biosynthetic process, positive regulation of cell population proliferation, cholesterol biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, dolichyl diphosphate biosynthetic process, 202 163 359 103 105 109 116 99 165 ENSG00000167513 chr16 88803213 88809258 + CDT1 protein_coding The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]. 81620 GO:0016604, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000777, GO:0000776, nuclear body, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, condensed chromosome kinetochore, kinetochore, GO:0070182, GO:0005515, GO:0003682, GO:0003677, GO:0003677, DNA polymerase binding, protein binding, chromatin binding, DNA binding, DNA binding, GO:2000105, GO:1905342, GO:1905341, GO:1902595, GO:1902426, GO:0072708, GO:0071163, GO:0071163, GO:0051383, GO:0051315, GO:0051301, GO:0045740, GO:0035563, GO:0033262, GO:0033044, GO:0031334, GO:0030174, GO:0030174, GO:0007059, GO:0000278, GO:0000278, GO:0000083, GO:0000082, GO:0000076, GO:0000076, positive regulation of DNA-dependent DNA replication, positive regulation of protein localization to kinetochore, negative regulation of protein localization to kinetochore, regulation of DNA replication origin binding, deactivation of mitotic spindle assembly checkpoint, response to sorbitol, DNA replication preinitiation complex assembly, DNA replication preinitiation complex assembly, kinetochore organization, attachment of mitotic spindle microtubules to kinetochore, cell division, positive regulation of DNA replication, positive regulation of chromatin binding, regulation of nuclear cell cycle DNA replication, regulation of chromosome organization, positive regulation of protein-containing complex assembly, regulation of DNA-dependent DNA replication initiation, regulation of DNA-dependent DNA replication initiation, chromosome segregation, mitotic cell cycle, mitotic cell cycle, regulation of transcription involved in G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, DNA replication checkpoint, DNA replication checkpoint, 2 4 1 1 3 2 0 2 5 ENSG00000167515 chr16 88856220 88862686 + TRAPPC2L protein_coding This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 51693 GO:0048471, GO:0043231, GO:0030008, GO:0030008, GO:0005829, GO:0005829, GO:0005783, GO:0005737, GO:0005634, GO:0000139, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, TRAPP complex, TRAPP complex, cytosol, cytosol, endoplasmic reticulum, cytoplasm, nucleus, Golgi membrane, GO:0005515, protein binding, GO:0048208, GO:0006888, COPII vesicle coating, endoplasmic reticulum to Golgi vesicle-mediated transport, 32 19 39 64 49 83 62 67 70 ENSG00000167522 chr16 89267619 89490561 - ANKRD11 protein_coding This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]. 29123 GO:0005886, GO:0005829, GO:0005654, GO:0005634, GO:0005634, plasma membrane, cytosol, nucleoplasm, nucleus, nucleus, GO:0060348, GO:0060325, GO:0048705, GO:0042475, GO:0035264, GO:0009653, GO:0001894, GO:0001701, bone development, face morphogenesis, skeletal system morphogenesis, odontogenesis of dentin-containing tooth, multicellular organism growth, anatomical structure morphogenesis, tissue homeostasis, in utero embryonic development, 2297 2380 2616 1535 2165 1914 1993 1752 1643 ENSG00000167523 chr16 89657802 89671272 + SPATA33 protein_coding 124045 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0005515, protein binding, 7 5 23 20 8 17 4 7 14 ENSG00000167524 chr17 28607964 28614200 - SGK494 protein_coding 124923 GO:0106311, GO:0106310, GO:0005524, GO:0005515, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, GO:0006468, protein phosphorylation, 81 87 111 100 166 194 118 109 156 ENSG00000167525 chr17 28703197 28711854 - PROCA1 protein_coding 147011 GO:0030332, GO:0004623, cyclin binding, phospholipase A2 activity, GO:0050482, GO:0006644, arachidonic acid secretion, phospholipid metabolic process, 23 58 58 93 97 143 82 83 91 ENSG00000167526 chr16 89560657 89566828 + RPL13 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011]. 6137 GO:0022626, GO:0022625, GO:0022625, GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005783, GO:0005730, GO:0005634, cytosolic ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, cytosol, cytosol, endoplasmic reticulum, nucleolus, nucleus, GO:0005515, GO:0003735, GO:0003735, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0060348, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, bone development, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1454 1019 2368 4966 2099 5436 3389 1944 4054 ENSG00000167528 chr12 48337180 48351414 - ZNF641 protein_coding 121274 GO:0005829, GO:0005654, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1053 846 2871 537 751 1199 636 612 1147 ENSG00000167531 chr12 48567684 48570066 - LALBA protein_coding This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008]. 3906 GO:0005796, GO:0005615, GO:0000139, Golgi lumen, extracellular space, Golgi membrane, GO:0005509, GO:0004461, calcium ion binding, lactose synthase activity, GO:0042742, GO:0007267, GO:0007165, GO:0006915, GO:0005989, defense response to bacterium, cell-cell signaling, signal transduction, apoptotic process, lactose biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000167535 chr12 48813794 48828941 + CACNB3 protein_coding This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]. 784 GO:1990454, GO:0045202, GO:0016324, GO:0016020, GO:0005891, GO:0005891, GO:0005886, GO:0005829, L-type voltage-gated calcium channel complex, synapse, apical plasma membrane, membrane, voltage-gated calcium channel complex, voltage-gated calcium channel complex, plasma membrane, cytosol, GO:0019901, GO:0008331, GO:0008331, GO:0005515, GO:0005246, GO:0005245, protein kinase binding, high voltage-gated calcium channel activity, high voltage-gated calcium channel activity, protein binding, calcium channel regulator activity, voltage-gated calcium channel activity, GO:2000463, GO:1905788, GO:1902630, GO:1901843, GO:1901386, GO:1901385, GO:0098903, GO:0090650, GO:0090314, GO:0072659, GO:0061577, GO:0061337, GO:0060402, GO:0051899, GO:0050966, GO:0050852, GO:0007528, GO:0007268, GO:0006816, positive regulation of excitatory postsynaptic potential, negative regulation of detection of mechanical stimulus involved in sensory perception of touch, regulation of membrane hyperpolarization, positive regulation of high voltage-gated calcium channel activity, negative regulation of voltage-gated calcium channel activity, regulation of voltage-gated calcium channel activity, regulation of membrane repolarization during action potential, cellular response to oxygen-glucose deprivation, positive regulation of protein targeting to membrane, protein localization to plasma membrane, calcium ion transmembrane transport via high voltage-gated calcium channel, cardiac conduction, calcium ion transport into cytosol, membrane depolarization, detection of mechanical stimulus involved in sensory perception of pain, T cell receptor signaling pathway, neuromuscular junction development, chemical synaptic transmission, calcium ion transport, 2 5 2 17 5 18 12 9 19 ENSG00000167536 chr17 28897781 28903071 - DHRS13 protein_coding 147015 GO:0016020, GO:0005743, GO:0005576, membrane, mitochondrial inner membrane, extracellular region, GO:0052650, NADP-retinol dehydrogenase activity, GO:0055114, GO:0042574, GO:0042572, oxidation-reduction process, retinal metabolic process, retinol metabolic process, 195 184 279 116 291 229 178 198 148 ENSG00000167543 chr17 29566052 29573157 + TP53I13 protein_coding 90313 GO:0016021, GO:0005886, GO:0005737, GO:0005737, integral component of membrane, plasma membrane, cytoplasm, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0045786, GO:0042493, GO:0014070, GO:0009411, negative regulation of cell cycle, response to drug, response to organic cyclic compound, response to UV, 27 22 62 78 38 124 87 16 63 ENSG00000167548 chr12 49018975 49059774 - KMT2D protein_coding The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]. 8085 GO:0044666, GO:0044666, GO:0035097, GO:0005654, GO:0005634, MLL3/4 complex, MLL3/4 complex, histone methyltransferase complex, nucleoplasm, nucleus, GO:0046872, GO:0042800, GO:0042800, GO:0042393, GO:0005515, GO:0003713, GO:0003677, GO:0000976, metal ion binding, histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), histone binding, protein binding, transcription coactivator activity, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1904837, GO:0097692, GO:0080182, GO:0051568, GO:0048477, GO:0045944, GO:0045944, GO:0045652, GO:0044648, GO:0043627, GO:0033148, GO:0008284, GO:0006355, GO:0006342, GO:0001555, beta-catenin-TCF complex assembly, histone H3-K4 monomethylation, histone H3-K4 trimethylation, histone H3-K4 methylation, oogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of megakaryocyte differentiation, histone H3-K4 dimethylation, response to estrogen, positive regulation of intracellular estrogen receptor signaling pathway, positive regulation of cell population proliferation, regulation of transcription, DNA-templated, chromatin silencing, oocyte growth, 6505 7755 8412 4155 6346 5662 5072 4736 4892 ENSG00000167549 chr17 29614756 29622907 - CORO6 protein_coding 84940 GO:0051015, GO:0005515, actin filament binding, protein binding, GO:0016477, GO:0007015, cell migration, actin filament organization, 8 9 10 6 11 10 2 10 2 ENSG00000167550 chr12 49064685 49070025 - RHEBL1 protein_coding 121268 GO:0012505, GO:0005886, GO:0005737, endomembrane system, plasma membrane, cytoplasm, GO:0046872, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, metal ion binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:0051092, GO:0031929, GO:0007264, positive regulation of NF-kappaB transcription factor activity, TOR signaling, small GTPase mediated signal transduction, 2 1 3 3 10 16 8 1 6 ENSG00000167552 chr12 49184796 49189324 - TUBA1A protein_coding Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]. 7846 GO:0070062, GO:0055037, GO:0045121, GO:0043209, GO:0036464, GO:0031594, GO:0015630, GO:0005881, GO:0005874, GO:0005874, GO:0005874, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, recycling endosome, membrane raft, myelin sheath, cytoplasmic ribonucleoprotein granule, neuromuscular junction, microtubule cytoskeleton, cytoplasmic microtubule, microtubule, microtubule, microtubule, cytosol, cytoplasm, nucleus, GO:0042802, GO:0019904, GO:0005525, GO:0005515, GO:0005200, GO:0005198, GO:0003924, identical protein binding, protein domain specific binding, GTP binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, GTPase activity, GO:0097711, GO:0051301, GO:0050807, GO:0030705, GO:0010389, GO:0007017, GO:0000278, GO:0000226, GO:0000086, ciliary basal body-plasma membrane docking, cell division, regulation of synapse organization, cytoskeleton-dependent intracellular transport, regulation of G2/M transition of mitotic cell cycle, microtubule-based process, mitotic cell cycle, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 6756 7630 8746 1823 4568 2996 2811 5448 3136 ENSG00000167553 chr12 49188736 49274603 + TUBA1C protein_coding 84790 GO:0031982, GO:0015630, GO:0005874, GO:0005874, GO:0005737, GO:0005634, GO:0005634, vesicle, microtubule cytoskeleton, microtubule, microtubule, cytoplasm, nucleus, nucleus, GO:0005525, GO:0005515, GO:0005200, GO:0005198, GO:0003924, GTP binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, GTPase activity, GO:0051301, GO:0030705, GO:0007017, GO:0000278, GO:0000226, cell division, cytoskeleton-dependent intracellular transport, microtubule-based process, mitotic cell cycle, microtubule cytoskeleton organization, 1492 1676 1867 367 747 694 538 820 603 ENSG00000167554 chr19 52336245 52367778 + ZNF610 protein_coding 162963 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 1 2 5 0 6 1 2 3 ENSG00000167555 chr19 52397849 52418412 + ZNF528 protein_coding 84436 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 24 29 51 60 25 67 68 14 28 ENSG00000167562 chr19 52555457 52587174 + ZNF701 protein_coding 55762 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 227 207 276 136 263 214 123 195 136 ENSG00000167565 chr19 40440844 40444705 - SERTAD3 protein_coding The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 29946 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, GO:0045893, GO:0030308, GO:0006355, positive regulation of transcription, DNA-templated, negative regulation of cell growth, regulation of transcription, DNA-templated, 646 745 577 583 833 759 686 686 621 ENSG00000167566 chr12 49791146 49828750 - NCKAP5L protein_coding 57701 GO:0035371, GO:0035371, GO:0005813, GO:0005737, microtubule plus-end, microtubule plus-end, centrosome, cytoplasm, GO:0005515, protein binding, GO:0007019, GO:0007019, GO:0001578, GO:0001578, microtubule depolymerization, microtubule depolymerization, microtubule bundle formation, microtubule bundle formation, 124 208 184 79 165 95 123 109 109 ENSG00000167578 chr19 40778216 40796938 + RAB4B protein_coding RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009]. 53916 GO:0055037, GO:0048471, GO:0032593, GO:0032593, GO:0030667, GO:0005886, GO:0005768, recycling endosome, perinuclear region of cytoplasm, insulin-responsive compartment, insulin-responsive compartment, secretory granule membrane, plasma membrane, endosome, GO:0005525, GO:0005515, GO:0003924, GO:0003674, GTP binding, protein binding, GTPase activity, molecular_function, GO:0046323, GO:0043312, GO:0032482, GO:0030100, GO:0015031, glucose import, neutrophil degranulation, Rab protein signal transduction, regulation of endocytosis, protein transport, 52 64 61 62 108 75 55 63 69 ENSG00000167580 chr12 49950741 49958881 + AQP2 protein_coding This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]. 359 GO:0098576, GO:0070062, GO:0070062, GO:0055037, GO:0030658, GO:0016324, GO:0016324, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005794, lumenal side of membrane, extracellular exosome, extracellular exosome, recycling endosome, transport vesicle membrane, apical plasma membrane, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0015250, GO:0015250, GO:0015250, GO:0015168, GO:0005515, GO:0005372, water channel activity, water channel activity, water channel activity, glycerol transmembrane transporter activity, protein binding, water transmembrane transporter activity, GO:0072205, GO:0071288, GO:0071280, GO:0055085, GO:0051289, GO:0042631, GO:0015793, GO:0006833, GO:0006833, GO:0006833, GO:0006833, GO:0003097, GO:0003091, GO:0003091, metanephric collecting duct development, cellular response to mercury ion, cellular response to copper ion, transmembrane transport, protein homotetramerization, cellular response to water deprivation, glycerol transport, water transport, water transport, water transport, water transport, renal water transport, renal water homeostasis, renal water homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000167588 chr12 50103819 50111319 + GPD1 protein_coding This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. 2819 GO:0070062, GO:0009331, GO:0005829, GO:0005829, extracellular exosome, glycerol-3-phosphate dehydrogenase complex, cytosol, cytosol, GO:0051287, GO:0042803, GO:0005515, GO:0004368, GO:0004367, NAD binding, protein homodimerization activity, protein binding, glycerol-3-phosphate dehydrogenase (quinone) activity, glycerol-3-phosphate dehydrogenase [NAD+] activity, GO:0071356, GO:0071320, GO:0046168, GO:0045821, GO:0006654, GO:0006127, GO:0006116, GO:0006094, GO:0006072, cellular response to tumor necrosis factor, cellular response to cAMP, glycerol-3-phosphate catabolic process, positive regulation of glycolytic process, phosphatidic acid biosynthetic process, glycerophosphate shuttle, NADH oxidation, gluconeogenesis, glycerol-3-phosphate metabolic process, 2 3 1 5 7 23 7 8 3 ENSG00000167595 chr19 35758143 35771028 + PROSER3 protein_coding 148137 GO:0005515, protein binding, 162 181 181 121 187 119 151 116 97 ENSG00000167600 chr19 41193049 41207539 + CYP2S1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008]. 29785 GO:0043231, GO:0005789, GO:0005783, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, GO:0106256, GO:0020037, GO:0016836, GO:0016712, GO:0008401, GO:0008395, GO:0008392, GO:0005515, GO:0005506, GO:0004796, GO:0004497, hydroperoxy icosatetraenoate dehydratase activity, heme binding, hydro-lyase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, retinoic acid 4-hydroxylase activity, steroid hydroxylase activity, arachidonic acid epoxygenase activity, protein binding, iron ion binding, thromboxane-A synthase activity, monooxygenase activity, GO:0055114, GO:0042738, GO:0042573, GO:0019373, GO:0006805, GO:0006693, GO:0006690, GO:0006082, oxidation-reduction process, exogenous drug catabolic process, retinoic acid metabolic process, epoxygenase P450 pathway, xenobiotic metabolic process, prostaglandin metabolic process, icosanoid metabolic process, organic acid metabolic process, 0 1 0 0 2 2 3 2 12 ENSG00000167601 chr19 41219203 41261766 + AXL protein_coding The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 558 GO:0070062, GO:0044228, GO:0043235, GO:0043231, GO:0015629, GO:0009986, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005615, extracellular exosome, host cell surface, receptor complex, intracellular membrane-bounded organelle, actin cytoskeleton, cell surface, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0043548, GO:0032036, GO:0005524, GO:0005515, GO:0004714, GO:0004713, GO:0001786, GO:0001618, phosphatidylinositol 3-kinase binding, myosin heavy chain binding, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, phosphatidylserine binding, virus receptor activity, GO:2000669, GO:0097350, GO:0097028, GO:0071222, GO:0070301, GO:0060068, GO:0051897, GO:0051250, GO:0048549, GO:0048469, GO:0048010, GO:0046718, GO:0045087, GO:0043524, GO:0043491, GO:0043066, GO:0042698, GO:0035457, GO:0034446, GO:0034101, GO:0033674, GO:0032940, GO:0032825, GO:0032720, GO:0032689, GO:0031668, GO:0031100, GO:0030168, GO:0021885, GO:0018108, GO:0016477, GO:0007399, GO:0007283, GO:0007275, GO:0007169, GO:0007165, GO:0006954, GO:0006909, GO:0006909, GO:0001974, GO:0001961, GO:0001779, GO:0001764, negative regulation of dendritic cell apoptotic process, neutrophil clearance, dendritic cell differentiation, cellular response to lipopolysaccharide, cellular response to hydrogen peroxide, vagina development, positive regulation of protein kinase B signaling, negative regulation of lymphocyte activation, positive regulation of pinocytosis, cell maturation, vascular endothelial growth factor receptor signaling pathway, viral entry into host cell, innate immune response, negative regulation of neuron apoptotic process, protein kinase B signaling, negative regulation of apoptotic process, ovulation cycle, cellular response to interferon-alpha, substrate adhesion-dependent cell spreading, erythrocyte homeostasis, positive regulation of kinase activity, secretion by cell, positive regulation of natural killer cell differentiation, negative regulation of tumor necrosis factor production, negative regulation of interferon-gamma production, cellular response to extracellular stimulus, animal organ regeneration, platelet activation, forebrain cell migration, peptidyl-tyrosine phosphorylation, cell migration, nervous system development, spermatogenesis, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, inflammatory response, phagocytosis, phagocytosis, blood vessel remodeling, positive regulation of cytokine-mediated signaling pathway, natural killer cell differentiation, neuron migration, 0 0 7 5 3 5 1 1 5 ENSG00000167604 chr19 35887653 35902303 - NFKBID protein_coding 84807 GO:0005634, nucleus, GO:0051059, GO:0005515, NF-kappaB binding, protein binding, GO:2000321, GO:0070245, GO:0050852, GO:0043124, GO:0033085, GO:0032088, GO:0010468, GO:0006954, positive regulation of T-helper 17 cell differentiation, positive regulation of thymocyte apoptotic process, T cell receptor signaling pathway, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of T cell differentiation in thymus, negative regulation of NF-kappaB transcription factor activity, regulation of gene expression, inflammatory response, 3048 3264 6613 2246 1814 4817 3369 2003 4278 ENSG00000167608 chr19 54160108 54173250 - TMC4 protein_coding 147798 GO:0070062, GO:0005887, extracellular exosome, integral component of plasma membrane, GO:0008381, mechanosensitive ion channel activity, GO:0034220, ion transmembrane transport, 1 0 2 1 0 4 1 0 0 ENSG00000167612 chr12 51887960 51891664 + ANKRD33 protein_coding 341405 GO:0005829, GO:0005634, cytosol, nucleus, GO:2000678, GO:0035914, GO:0000122, negative regulation of transcription regulatory region DNA binding, skeletal muscle cell differentiation, negative regulation of transcription by RNA polymerase II, 0 3 5 0 0 3 4 0 3 ENSG00000167613 chr19 54351384 54370558 - LAIR1 protein_coding The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 3903 GO:0070821, GO:0035579, GO:0016021, GO:0005886, GO:0005886, tertiary granule membrane, specific granule membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0050776, GO:0043312, GO:0002250, regulation of immune response, neutrophil degranulation, adaptive immune response, 4 11 1 5 29 0 9 16 7 ENSG00000167614 chr19 54415219 54436900 + TTYH1 protein_coding This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]. 57348 GO:0034707, GO:0032433, GO:0031527, GO:0030868, GO:0016021, GO:0005886, GO:0005886, chloride channel complex, filopodium tip, filopodium membrane, smooth endoplasmic reticulum membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0072320, GO:0072320, GO:0005515, GO:0005509, GO:0005381, GO:0005254, GO:0005229, volume-sensitive chloride channel activity, volume-sensitive chloride channel activity, protein binding, calcium ion binding, iron ion transmembrane transporter activity, chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0098609, GO:0046847, GO:0034755, GO:0034220, GO:0031589, GO:0006826, GO:0006821, GO:0000278, chloride transmembrane transport, cell-cell adhesion, filopodium assembly, iron ion transmembrane transport, ion transmembrane transport, cell-substrate adhesion, iron ion transport, chloride transport, mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000167615 chr19 54448887 54462037 + LENG8 protein_coding 114823 GO:0005634, nucleus, GO:0005515, protein binding, 9 104 10 6 7 7 10 10 10 ENSG00000167617 chr19 54465026 54473264 - CDC42EP5 protein_coding Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013]. 148170 GO:0016020, GO:0012505, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005737, membrane, endomembrane system, plasma membrane, cytoskeleton, cytosol, cytoplasm, cytoplasm, GO:0031267, GO:0031267, small GTPase binding, small GTPase binding, GO:0031274, GO:0031274, GO:0030838, GO:0030838, GO:0008360, GO:0008360, GO:0007266, positive regulation of pseudopodium assembly, positive regulation of pseudopodium assembly, positive regulation of actin filament polymerization, positive regulation of actin filament polymerization, regulation of cell shape, regulation of cell shape, Rho protein signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000167618 chr19 54497879 54510687 + LAIR2 protein_coding The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]. 3904 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0050776, regulation of immune response, 0 0 0 0 0 0 0 0 0 ENSG00000167619 chr19 42313325 42325062 + TMEM145 protein_coding 284339 GO:0016021, integral component of membrane, GO:0019236, GO:0007186, response to pheromone, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000167625 chr19 42220271 42228201 + ZNF526 protein_coding 116115 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 16 24 24 19 10 22 18 12 29 ENSG00000167632 chr8 139727725 140458579 - TRAPPC9 protein_coding This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]. 83696 GO:0030008, GO:0005829, GO:0005802, GO:0005783, GO:0000139, TRAPP complex, cytosol, trans-Golgi network, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:0051092, GO:0048208, GO:0030182, GO:0021987, positive regulation of NF-kappaB transcription factor activity, COPII vesicle coating, neuron differentiation, cerebral cortex development, 404 420 229 211 319 146 224 315 206 ENSG00000167633 chr19 54816468 54830778 + KIR3DL1 protein_coding Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]. 3811 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0030109, GO:0005515, GO:0001540, HLA-B specific inhibitory MHC class I receptor activity, protein binding, amyloid-beta binding, GO:0050776, GO:0042267, GO:0006955, regulation of immune response, natural killer cell mediated cytotoxicity, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000167634 chr19 54923509 54966312 - NLRP7 protein_coding This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 199713 GO:0005575, cellular_component, GO:0089720, GO:0019966, GO:0019828, GO:0005524, caspase binding, interleukin-1 binding, aspartic-type endopeptidase inhibitor activity, ATP binding, GO:1905246, GO:1900016, GO:0071347, GO:0071222, GO:0032691, GO:0010955, GO:0010951, negative regulation of aspartic-type peptidase activity, negative regulation of cytokine production involved in inflammatory response, cellular response to interleukin-1, cellular response to lipopolysaccharide, negative regulation of interleukin-1 beta production, negative regulation of protein processing, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000167635 chr19 36214602 36238774 + ZNF146 protein_coding 7705 GO:0005829, GO:0005730, GO:0005634, cytosol, nucleolus, nucleus, GO:0008270, GO:0008201, GO:0005515, GO:0003677, GO:0000981, GO:0000978, zinc ion binding, heparin binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 152 141 247 242 100 185 135 97 164 ENSG00000167637 chr19 43827292 43852017 + ZNF283 protein_coding 284349 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 12 12 13 19 22 17 8 8 11 ENSG00000167641 chr19 38251237 38256591 - PPP1R14A protein_coding The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011]. 94274 GO:0005829, cytosol, GO:0004865, protein serine/threonine phosphatase inhibitor activity, GO:0042325, GO:0035690, GO:0032515, regulation of phosphorylation, cellular response to drug, negative regulation of phosphoprotein phosphatase activity, 0 1 0 1 1 0 0 5 3 ENSG00000167642 chr19 38244035 38292614 + SPINT2 protein_coding This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 10653 GO:0016021, GO:0005886, GO:0005737, GO:0005576, integral component of membrane, plasma membrane, cytoplasm, extracellular region, GO:0004867, GO:0004867, GO:0004866, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:2000178, GO:2000146, GO:0071773, GO:0071711, GO:0060672, GO:0022408, GO:0010951, GO:0007163, GO:0001843, negative regulation of neural precursor cell proliferation, negative regulation of cell motility, cellular response to BMP stimulus, basement membrane organization, epithelial cell morphogenesis involved in placental branching, negative regulation of cell-cell adhesion, negative regulation of endopeptidase activity, establishment or maintenance of cell polarity, neural tube closure, 97 83 181 54 79 59 56 58 95 ENSG00000167644 chr19 38304161 38305009 + C19orf33 protein_coding The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 64073 GO:0005886, GO:0005829, GO:0005654, GO:0005634, plasma membrane, cytosol, nucleoplasm, nucleus, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000167645 chr19 38305104 38317273 - YIF1B protein_coding 90522 GO:0033116, GO:0030173, GO:0030134, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005783, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of Golgi membrane, COPII-coated ER to Golgi transport vesicle, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0006888, GO:0006888, GO:0006612, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, protein targeting to membrane, 70 80 100 100 98 94 64 72 81 ENSG00000167646 chr19 55158661 55166722 - DNAAF3 protein_coding The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 352909 GO:0005737, cytoplasm, GO:0070286, GO:0044458, axonemal dynein complex assembly, motile cilium assembly, 0 0 0 0 0 0 0 0 0 ENSG00000167653 chr8 142670308 142682724 + PSCA protein_coding This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. 8000 GO:0070062, GO:0031225, GO:0005886, GO:0005886, GO:0005886, GO:0005576, extracellular exosome, anchored component of membrane, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0033130, acetylcholine receptor binding, GO:0099601, GO:0070373, regulation of neurotransmitter receptor activity, negative regulation of ERK1 and ERK2 cascade, 0 0 0 0 0 3 0 0 3 ENSG00000167654 chr19 3879864 3928079 + ATCAY protein_coding This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]. 85300 GO:0098793, GO:0048471, GO:0045202, GO:0044306, GO:0043005, GO:0031966, GO:0030426, GO:0030425, GO:0030424, GO:0005739, GO:0005737, GO:0005737, presynapse, perinuclear region of cytoplasm, synapse, neuron projection terminus, neuron projection, mitochondrial membrane, growth cone, dendrite, axon, mitochondrion, cytoplasm, cytoplasm, GO:0019894, GO:0005515, GO:0004309, kinesin binding, protein binding, exopolyphosphatase activity, GO:2000212, GO:0048311, GO:0032880, GO:0031175, GO:0006915, GO:0006798, negative regulation of glutamate metabolic process, mitochondrion distribution, regulation of protein localization, neuron projection development, apoptotic process, polyphosphate catabolic process, 0 0 0 0 0 0 0 1 0 ENSG00000167656 chr8 142784880 142786592 - LY6D protein_coding 8581 GO:0031225, GO:0016020, GO:0009986, GO:0005886, GO:0005576, anchored component of membrane, membrane, cell surface, plasma membrane, extracellular region, GO:0005515, protein binding, GO:0035634, GO:0030098, GO:0007155, response to stilbenoid, lymphocyte differentiation, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000167657 chr19 3958453 3971123 - DAPK3 protein_coding Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]. 1613 GO:0045121, GO:0016605, GO:0005884, GO:0005737, GO:0005654, GO:0005634, GO:0005634, membrane raft, PML body, actin filament, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0043522, GO:0042803, GO:0042802, GO:0031267, GO:0008140, GO:0008022, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, leucine zipper domain binding, protein homodimerization activity, identical protein binding, small GTPase binding, cAMP response element binding protein binding, protein C-terminus binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2001241, GO:2000249, GO:2000249, GO:2000145, GO:0097190, GO:0090263, GO:0071346, GO:0051893, GO:0046777, GO:0046777, GO:0043519, GO:0043065, GO:0043065, GO:0042981, GO:0035556, GO:0035556, GO:0030335, GO:0030182, GO:0017148, GO:0010506, GO:0008360, GO:0007346, GO:0007088, GO:0006940, GO:0006915, GO:0006915, GO:0006468, GO:0006355, GO:0006325, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, regulation of actin cytoskeleton reorganization, regulation of actin cytoskeleton reorganization, regulation of cell motility, apoptotic signaling pathway, positive regulation of canonical Wnt signaling pathway, cellular response to interferon-gamma, regulation of focal adhesion assembly, protein autophosphorylation, protein autophosphorylation, regulation of myosin II filament organization, positive regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, intracellular signal transduction, intracellular signal transduction, positive regulation of cell migration, neuron differentiation, negative regulation of translation, regulation of autophagy, regulation of cell shape, regulation of mitotic cell cycle, regulation of mitotic nuclear division, regulation of smooth muscle contraction, apoptotic process, apoptotic process, protein phosphorylation, regulation of transcription, DNA-templated, chromatin organization, 451 402 512 448 495 485 500 398 451 ENSG00000167658 chr19 3976056 3985469 - EEF2 protein_coding This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008]. 1938 GO:1990904, GO:1990904, GO:1904813, GO:0070062, GO:0045121, GO:0042788, GO:0034774, GO:0016235, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005576, ribonucleoprotein complex, ribonucleoprotein complex, ficolin-1-rich granule lumen, extracellular exosome, membrane raft, polysomal ribosome, secretory granule lumen, aggresome, membrane, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, nucleus, extracellular region, GO:0051015, GO:0045296, GO:0043022, GO:0019901, GO:0008097, GO:0005525, GO:0005515, GO:0003924, GO:0003746, GO:0003723, GO:0002039, actin filament binding, cadherin binding, ribosome binding, protein kinase binding, 5S rRNA binding, GTP binding, protein binding, GTPase activity, translation elongation factor activity, RNA binding, p53 binding, GO:2000767, GO:1990416, GO:0051593, GO:0045727, GO:0045471, GO:0043312, GO:0042542, GO:0042493, GO:0035914, GO:0034976, GO:0032355, GO:0014009, GO:0007568, GO:0006414, GO:0006414, GO:0003009, GO:0002931, GO:0002244, positive regulation of cytoplasmic translation, cellular response to brain-derived neurotrophic factor stimulus, response to folic acid, positive regulation of translation, response to ethanol, neutrophil degranulation, response to hydrogen peroxide, response to drug, skeletal muscle cell differentiation, response to endoplasmic reticulum stress, response to estradiol, glial cell proliferation, aging, translational elongation, translational elongation, skeletal muscle contraction, response to ischemia, hematopoietic progenitor cell differentiation, 2951 2908 4761 12516 11510 12448 9574 6167 8123 ENSG00000167664 chr19 4292232 4302431 - TMIGD2 protein_coding 126259 GO:0016021, GO:0005886, GO:0005615, integral component of membrane, plasma membrane, extracellular space, GO:0015026, GO:0005515, coreceptor activity, protein binding, GO:0045766, GO:0042104, GO:0031295, GO:0006955, GO:0002377, GO:0001819, positive regulation of angiogenesis, positive regulation of activated T cell proliferation, T cell costimulation, immune response, immunoglobulin production, positive regulation of cytokine production, 3 5 6 47 4 25 26 15 20 ENSG00000167670 chr19 4402662 4445018 + CHAF1A protein_coding Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]. 10036 GO:0033186, GO:0033186, GO:0032991, GO:0005634, GO:0000785, CAF-1 complex, CAF-1 complex, protein-containing complex, nucleus, chromatin, GO:0070087, GO:0051082, GO:0042802, GO:0005515, GO:0003682, chromo shadow domain binding, unfolded protein binding, identical protein binding, protein binding, chromatin binding, GO:0031497, GO:0007049, GO:0006335, GO:0006334, GO:0006281, GO:0006260, chromatin assembly, cell cycle, DNA replication-dependent nucleosome assembly, nucleosome assembly, DNA repair, DNA replication, 85 93 115 110 61 130 83 75 94 ENSG00000167671 chr19 4444999 4457822 - UBXN6 protein_coding 80700 GO:0070062, GO:0032991, GO:0031902, GO:0031901, GO:0019898, GO:0005829, GO:0005815, GO:0005768, GO:0005765, GO:0005737, GO:0005634, extracellular exosome, protein-containing complex, late endosome membrane, early endosome membrane, extrinsic component of membrane, cytosol, microtubule organizing center, endosome, lysosomal membrane, cytoplasm, nucleus, GO:0005515, protein binding, GO:0036503, GO:0032510, GO:0016236, ERAD pathway, endosome to lysosome transport via multivesicular body sorting pathway, macroautophagy, 554 550 626 384 572 506 456 427 354 ENSG00000167674 chr19 4472287 4502211 + HDGFL2 protein_coding This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 84717 GO:0005634, nucleus, GO:0005515, GO:0003712, GO:0003690, protein binding, transcription coregulator activity, double-stranded DNA binding, GO:0030307, GO:0006357, positive regulation of cell growth, regulation of transcription by RNA polymerase II, 380 371 373 183 302 250 245 300 228 ENSG00000167676 chr19 4502180 4518465 - PLIN4 protein_coding Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]. 729359 GO:0043231, GO:0005886, GO:0005886, GO:0005829, GO:0005811, intracellular membrane-bounded organelle, plasma membrane, plasma membrane, cytosol, lipid droplet, 861 794 1104 1257 1214 1716 1352 838 1483 ENSG00000167680 chr19 4542593 4559808 - SEMA6B protein_coding This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]. 10501 GO:0005887, GO:0005615, integral component of plasma membrane, extracellular space, GO:0045499, GO:0030215, GO:0005515, chemorepellent activity, semaphorin receptor binding, protein binding, GO:0071526, GO:0050919, GO:0048843, GO:0030335, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, axon guidance, neural crest cell migration, 113 85 257 18 45 65 29 45 84 ENSG00000167685 chr19 56132599 56160893 + ZNF444 protein_coding This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 55311 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 52 69 37 56 63 61 53 62 45 ENSG00000167693 chr17 799313 979770 - NXN protein_coding This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]. 64359 GO:0005829, GO:0005634, cytosol, nucleus, GO:0047134, GO:0004791, protein-disulfide reductase activity, thioredoxin-disulfide reductase activity, GO:0098869, GO:0072359, GO:0055114, GO:0031397, GO:0030178, GO:0030154, GO:0016055, cellular oxidant detoxification, circulatory system development, oxidation-reduction process, negative regulation of protein ubiquitination, negative regulation of Wnt signaling pathway, cell differentiation, Wnt signaling pathway, 4 7 1 0 2 0 0 4 2 ENSG00000167695 chr17 732412 742972 + FAM57A protein_coding The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 79850 GO:0016021, GO:0005886, GO:0005783, integral component of membrane, plasma membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0055088, GO:0008150, lipid homeostasis, biological_process, 7 18 8 1 2 2 0 5 0 ENSG00000167699 chr17 757097 783390 - GLOD4 protein_coding 51031 GO:0070062, GO:0005739, extracellular exosome, mitochondrion, GO:0045296, cadherin binding, 42 56 55 73 76 105 46 60 61 ENSG00000167700 chr8 144509074 144511213 + MFSD3 protein_coding 113655 GO:0016021, integral component of membrane, GO:0015295, GO:0005515, solute:proton symporter activity, protein binding, GO:1902600, proton transmembrane transport, 1 1 8 14 1 6 12 3 0 ENSG00000167701 chr8 144502973 144507174 + GPT protein_coding This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]. 2875 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0030170, GO:0004021, pyridoxal phosphate binding, L-alanine:2-oxoglutarate aminotransferase activity, GO:0045722, GO:0042853, GO:0042594, GO:0032869, GO:0008652, positive regulation of gluconeogenesis, L-alanine catabolic process, response to starvation, cellular response to insulin stimulus, cellular amino acid biosynthetic process, 4 0 4 2 3 0 3 2 0 ENSG00000167702 chr8 144466043 144474202 + KIFC2 protein_coding 90990 GO:0072686, GO:0005874, GO:0005871, GO:0005815, GO:0005737, GO:0005634, mitotic spindle, microtubule, kinesin complex, microtubule organizing center, cytoplasm, nucleus, GO:0016887, GO:0008017, GO:0005524, GO:0003777, ATPase activity, microtubule binding, ATP binding, microtubule motor activity, GO:0090307, GO:0007018, mitotic spindle assembly, microtubule-based movement, 55 34 55 100 48 141 111 40 107 ENSG00000167703 chr17 1569267 1628886 - SLC43A2 protein_coding This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]. 124935 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015179, GO:0015175, GO:0015171, GO:0005515, L-amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:1902475, GO:0060358, GO:0051956, GO:0015804, GO:0006865, L-alpha-amino acid transmembrane transport, negative regulation of leucine import, negative regulation of amino acid transport, neutral amino acid transport, amino acid transport, 117 154 190 212 388 373 218 252 300 ENSG00000167705 chr17 1646145 1650077 - RILP protein_coding This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]. 83547 GO:0036064, GO:0032991, GO:0031902, GO:0030670, GO:0005829, GO:0005770, GO:0005770, GO:0005765, GO:0005765, GO:0005764, GO:0005764, GO:0005737, ciliary basal body, protein-containing complex, late endosome membrane, phagocytic vesicle membrane, cytosol, late endosome, late endosome, lysosomal membrane, lysosomal membrane, lysosome, lysosome, cytoplasm, GO:0051959, GO:0046983, GO:0031267, GO:0031267, GO:0005515, dynein light intermediate chain binding, protein dimerization activity, small GTPase binding, small GTPase binding, protein binding, GO:0070676, GO:0060271, GO:0045732, GO:0045022, GO:0045022, GO:0042177, GO:0032509, GO:0019886, GO:0015031, GO:0010796, GO:0008333, intralumenal vesicle formation, cilium assembly, positive regulation of protein catabolic process, early endosome to late endosome transport, early endosome to late endosome transport, negative regulation of protein catabolic process, endosome transport via multivesicular body sorting pathway, antigen processing and presentation of exogenous peptide antigen via MHC class II, protein transport, regulation of multivesicular body size, endosome to lysosome transport, 0 0 0 0 0 0 0 0 0 ENSG00000167711 chr17 1742836 1755268 + SERPINF2 protein_coding This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 5345 GO:0072562, GO:0070062, GO:0062023, GO:0031093, GO:0009986, GO:0005615, GO:0005615, GO:0005577, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, platelet alpha granule lumen, cell surface, extracellular space, extracellular space, fibrinogen complex, extracellular region, extracellular region, GO:0042803, GO:0005515, GO:0004867, GO:0004867, GO:0004867, GO:0004867, GO:0004866, GO:0002020, protein homodimerization activity, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, protease binding, GO:2000049, GO:0071636, GO:0070374, GO:0051918, GO:0051496, GO:0048661, GO:0048514, GO:0046330, GO:0045944, GO:0045597, GO:0042730, GO:0032967, GO:0030199, GO:0010951, GO:0010757, GO:0010033, GO:0006953, GO:0002576, GO:0002034, positive regulation of cell-cell adhesion mediated by cadherin, positive regulation of transforming growth factor beta production, positive regulation of ERK1 and ERK2 cascade, negative regulation of fibrinolysis, positive regulation of stress fiber assembly, positive regulation of smooth muscle cell proliferation, blood vessel morphogenesis, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of cell differentiation, fibrinolysis, positive regulation of collagen biosynthetic process, collagen fibril organization, negative regulation of endopeptidase activity, negative regulation of plasminogen activation, response to organic substance, acute-phase response, platelet degranulation, maintenance of blood vessel diameter homeostasis by renin-angiotensin, 2 0 0 0 0 0 2 0 0 ENSG00000167716 chr17 1716523 1738599 + WDR81 protein_coding This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 124997 GO:0031902, GO:0031901, GO:0031313, GO:0005829, GO:0005794, GO:0005789, GO:0005765, GO:0005739, GO:0000421, late endosome membrane, early endosome membrane, extrinsic component of endosome membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, lysosomal membrane, mitochondrion, autophagosome membrane, GO:0070530, GO:0035014, GO:0005515, K63-linked polyubiquitin modification-dependent protein binding, phosphatidylinositol 3-kinase regulator activity, protein binding, GO:0050821, GO:0045022, GO:0043551, GO:0035973, GO:0010923, GO:0007005, GO:0006511, protein stabilization, early endosome to late endosome transport, regulation of phosphatidylinositol 3-kinase activity, aggrephagy, negative regulation of phosphatase activity, mitochondrion organization, ubiquitin-dependent protein catabolic process, 15 11 13 65 36 28 61 13 16 ENSG00000167720 chr17 2303383 2325260 + SRR protein_coding 63826 GO:0045177, GO:0043025, GO:0005886, GO:0005829, GO:0005737, GO:0005737, apical part of cell, neuronal cell body, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0042803, GO:0042802, GO:0030378, GO:0030378, GO:0030170, GO:0030170, GO:0030170, GO:0030165, GO:0018114, GO:0018114, GO:0016594, GO:0008721, GO:0005524, GO:0005524, GO:0005524, GO:0005515, GO:0005509, GO:0003941, GO:0003941, GO:0000287, GO:0000287, protein homodimerization activity, identical protein binding, serine racemase activity, serine racemase activity, pyridoxal phosphate binding, pyridoxal phosphate binding, pyridoxal phosphate binding, PDZ domain binding, threonine racemase activity, threonine racemase activity, glycine binding, D-serine ammonia-lyase activity, ATP binding, ATP binding, ATP binding, protein binding, calcium ion binding, L-serine ammonia-lyase activity, L-serine ammonia-lyase activity, magnesium ion binding, magnesium ion binding, GO:0070179, GO:0070179, GO:0070178, GO:0043278, GO:0042866, GO:0042866, GO:0042493, GO:0032496, GO:0009069, GO:0007568, GO:0007420, GO:0006564, GO:0006563, GO:0006563, D-serine biosynthetic process, D-serine biosynthetic process, D-serine metabolic process, response to morphine, pyruvate biosynthetic process, pyruvate biosynthetic process, response to drug, response to lipopolysaccharide, serine family amino acid metabolic process, aging, brain development, L-serine biosynthetic process, L-serine metabolic process, L-serine metabolic process, 24 13 33 52 12 40 17 20 44 ENSG00000167721 chr17 2322503 2337507 - TSR1 protein_coding 55720 GO:0030688, GO:0005829, GO:0005730, GO:0005654, preribosome, small subunit precursor, cytosol, nucleolus, nucleoplasm, GO:0034511, GO:0005525, GO:0005515, GO:0003924, GO:0003723, U3 snoRNA binding, GTP binding, protein binding, GTPase activity, RNA binding, GO:0000479, GO:0000462, endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 41 27 60 99 43 73 50 33 88 ENSG00000167723 chr17 3510502 3557995 - TRPV3 protein_coding This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 162514 GO:0043235, GO:0005887, GO:0005886, receptor complex, integral component of plasma membrane, plasma membrane, GO:0005262, GO:0005216, calcium channel activity, ion channel activity, GO:0098703, GO:0090280, GO:0070588, GO:0042636, GO:0009408, calcium ion import across plasma membrane, positive regulation of calcium ion import, calcium ion transmembrane transport, negative regulation of hair cycle, response to heat, 1 4 0 0 8 9 4 2 0 ENSG00000167733 chr19 5680604 5688523 + HSD11B1L protein_coding This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]. 374875 GO:0043231, GO:0005654, GO:0005576, intracellular membrane-bounded organelle, nucleoplasm, extracellular region, GO:0016491, oxidoreductase activity, GO:0055114, oxidation-reduction process, 6 7 7 14 43 19 29 10 14 ENSG00000167740 chr17 4143168 4187310 + CYB5D2 protein_coding 124936 GO:0016020, GO:0012505, GO:0005576, membrane, endomembrane system, extracellular region, GO:0020037, GO:0005515, heme binding, protein binding, GO:0045666, positive regulation of neuron differentiation, 20 28 28 20 18 20 27 21 13 ENSG00000167741 chr17 4556927 4560818 - GGT6 protein_coding GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]. 124975 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0103068, GO:0102953, GO:0036374, GO:0005515, GO:0003674, leukotriene C4 gamma-glutamyl transferase activity, hypoglycin A gamma-glutamyl transpeptidase activity, glutathione hydrolase activity, protein binding, molecular_function, GO:1901750, GO:0008150, GO:0006750, GO:0006508, leukotriene D4 biosynthetic process, biological_process, glutathione biosynthetic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000167747 chr19 50797704 50804929 - C19orf48 protein_coding 84798 6 7 12 31 2 23 33 8 17 ENSG00000167748 chr19 50819148 50823787 - KLK1 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008]. 3816 GO:0070062, GO:0030141, GO:0005634, extracellular exosome, secretory granule, nucleus, GO:0004252, serine-type endopeptidase activity, GO:0031638, GO:0003073, zymogen activation, regulation of systemic arterial blood pressure, 0 0 0 5 0 0 0 1 2 ENSG00000167749 chr19 50906352 50910738 - KLK4 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]. 9622 GO:0030141, GO:0005576, secretory granule, extracellular region, GO:0046872, GO:0008236, GO:0005515, GO:0004252, metal ion binding, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0097186, GO:0097186, GO:0031214, GO:0022617, GO:0006508, amelogenesis, amelogenesis, biomineral tissue development, extracellular matrix disassembly, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000167751 chr19 50861568 50880567 + KLK2 protein_coding This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012]. 3817 GO:0070062, GO:0030141, GO:0005576, extracellular exosome, secretory granule, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0031638, GO:0022617, GO:0003073, zymogen activation, extracellular matrix disassembly, regulation of systemic arterial blood pressure, 0 0 0 0 0 0 0 0 0 ENSG00000167754 chr19 50943303 50953093 - KLK5 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 25818 GO:0097209, GO:0030141, GO:0005829, GO:0005615, GO:0005576, epidermal lamellar body, secretory granule, cytosol, extracellular space, extracellular region, GO:0008236, GO:0008233, GO:0005515, GO:0004252, GO:0004252, GO:0004252, serine-type peptidase activity, peptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0097186, GO:0070268, GO:0045745, GO:0022617, GO:0008544, GO:0006508, GO:0002803, GO:0002803, amelogenesis, cornification, positive regulation of G protein-coupled receptor signaling pathway, extracellular matrix disassembly, epidermis development, proteolysis, positive regulation of antibacterial peptide production, positive regulation of antibacterial peptide production, 0 0 0 0 0 0 0 0 0 ENSG00000167755 chr19 50958631 50969673 - KLK6 protein_coding This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimer's and Parkinson's disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 5653 GO:0030141, GO:0005783, GO:0005739, GO:0005737, GO:0005730, GO:0005615, GO:0005576, secretory granule, endoplasmic reticulum, mitochondrion, cytoplasm, nucleolus, extracellular space, extracellular region, GO:0005515, GO:0004252, GO:0004252, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0045745, GO:0045595, GO:0042982, GO:0042552, GO:0042445, GO:0042246, GO:0030574, GO:0016540, GO:0010975, GO:0009611, GO:0007417, positive regulation of G protein-coupled receptor signaling pathway, regulation of cell differentiation, amyloid precursor protein metabolic process, myelination, hormone metabolic process, tissue regeneration, collagen catabolic process, protein autoprocessing, regulation of neuron projection development, response to wounding, central nervous system development, 0 1 0 0 0 0 0 0 0 ENSG00000167757 chr19 51022216 51028039 - KLK11 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing and the use of alternate promoters results in multiple transcript variants encoding distinct isoforms which are differentially expressed. [provided by RefSeq, Dec 2016]. 11012 GO:0070062, GO:0030141, GO:0005794, GO:0005615, extracellular exosome, secretory granule, Golgi apparatus, extracellular space, GO:0008236, GO:0004252, serine-type peptidase activity, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000167759 chr19 51056206 51065114 - KLK13 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. [provided by RefSeq, Jan 2017]. 26085 GO:0030141, GO:0005737, GO:0005615, GO:0005576, secretory granule, cytoplasm, extracellular space, extracellular region, GO:0016787, GO:0005515, GO:0004252, hydrolase activity, protein binding, serine-type endopeptidase activity, GO:0070268, GO:0016485, GO:0006508, cornification, protein processing, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000167766 chr19 52594060 52690496 - ZNF83 protein_coding 55769 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 99 205 461 216 297 601 224 188 479 ENSG00000167767 chr12 52168996 52192000 - KRT80 protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]. 144501 GO:0045111, GO:0045095, GO:0005829, intermediate filament cytoskeleton, keratin filament, cytosol, GO:0005515, protein binding, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000167768 chr12 52674736 52680407 - KRT1 protein_coding The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. 3848 GO:1904813, GO:0072562, GO:0070062, GO:0062023, GO:0045095, GO:0016020, GO:0016020, GO:0005856, GO:0005829, GO:0005634, GO:0005615, GO:0005576, GO:0001533, ficolin-1-rich granule lumen, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, keratin filament, membrane, membrane, cytoskeleton, cytosol, nucleus, extracellular space, extracellular region, cornified envelope, GO:0046982, GO:0038023, GO:0030280, GO:0030246, GO:0005515, protein heterodimerization activity, signaling receptor activity, structural constituent of skin epidermis, carbohydrate binding, protein binding, GO:0070268, GO:0061436, GO:0051290, GO:0050728, GO:0045765, GO:0043312, GO:0042730, GO:0031424, GO:0018149, GO:0006979, GO:0001895, GO:0001867, cornification, establishment of skin barrier, protein heterotetramerization, negative regulation of inflammatory response, regulation of angiogenesis, neutrophil degranulation, fibrinolysis, keratinization, peptide cross-linking, response to oxidative stress, retina homeostasis, complement activation, lectin pathway, 0 0 0 0 0 0 0 1 0 ENSG00000167769 chr19 6306142 6333629 - ACER1 protein_coding Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]. 125981 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102121, GO:0071633, GO:0071633, GO:0046872, GO:0017040, GO:0017040, GO:0005515, ceramidase activity, dihydroceramidase activity, dihydroceramidase activity, metal ion binding, N-acylsphingosine amidohydrolase activity, N-acylsphingosine amidohydrolase activity, protein binding, GO:0071277, GO:0048733, GO:0046514, GO:0046514, GO:0046512, GO:0046512, GO:0033561, GO:0030216, GO:0030154, GO:0030148, GO:0030148, GO:0019216, GO:0010446, GO:0008544, GO:0006665, cellular response to calcium ion, sebaceous gland development, ceramide catabolic process, ceramide catabolic process, sphingosine biosynthetic process, sphingosine biosynthetic process, regulation of water loss via skin, keratinocyte differentiation, cell differentiation, sphingolipid biosynthetic process, sphingolipid biosynthetic process, regulation of lipid metabolic process, response to alkaline pH, epidermis development, sphingolipid metabolic process, 0 0 1 0 0 7 2 0 4 ENSG00000167770 chr11 63985853 64001811 + OTUB1 protein_coding The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 55611 GO:0070062, GO:0005829, GO:0005654, GO:0005634, extracellular exosome, cytosol, nucleoplasm, nucleus, GO:0043130, GO:0043130, GO:0031625, GO:0019784, GO:0019784, GO:0005515, GO:0004843, GO:0004843, ubiquitin binding, ubiquitin binding, ubiquitin protein ligase binding, NEDD8-specific protease activity, NEDD8-specific protease activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:2000780, GO:2000780, GO:1901315, GO:1901315, GO:0071347, GO:0071108, GO:0071108, GO:0016579, GO:0006974, GO:0006281, GO:0002250, negative regulation of double-strand break repair, negative regulation of double-strand break repair, negative regulation of histone H2A K63-linked ubiquitination, negative regulation of histone H2A K63-linked ubiquitination, cellular response to interleukin-1, protein K48-linked deubiquitination, protein K48-linked deubiquitination, protein deubiquitination, cellular response to DNA damage stimulus, DNA repair, adaptive immune response, 419 404 502 374 516 467 426 421 354 ENSG00000167771 chr11 63911221 63916844 - RCOR2 protein_coding 283248 GO:0005667, GO:0000118, transcription regulator complex, histone deacetylase complex, GO:0019899, GO:0005515, GO:0003714, enzyme binding, protein binding, transcription corepressor activity, GO:0045892, GO:0016575, GO:0006357, negative regulation of transcription, DNA-templated, histone deacetylation, regulation of transcription by RNA polymerase II, 0 0 1 0 0 0 0 1 0 ENSG00000167772 chr19 8363289 8374373 + ANGPTL4 protein_coding This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]. 51129 GO:0072562, GO:0062023, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, collagen-containing extracellular matrix, extracellular space, extracellular space, extracellular region, extracellular region, GO:0042802, GO:0005515, GO:0005102, GO:0004857, GO:0004857, identical protein binding, protein binding, signaling receptor binding, enzyme inhibitor activity, enzyme inhibitor activity, GO:0070328, GO:0070328, GO:0051005, GO:0045766, GO:0043335, GO:0043066, GO:0019216, GO:0006629, GO:0001666, GO:0001525, triglyceride homeostasis, triglyceride homeostasis, negative regulation of lipoprotein lipase activity, positive regulation of angiogenesis, protein unfolding, negative regulation of apoptotic process, regulation of lipid metabolic process, lipid metabolic process, response to hypoxia, angiogenesis, 0 6 2 0 1 2 6 1 4 ENSG00000167774 chr19 8308283 8321379 - AC010323.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000167775 chr19 8302127 8308356 - CD320 protein_coding This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]. 51293 GO:0016020, GO:0010008, GO:0005887, GO:0005886, GO:0005886, GO:0005783, membrane, endosome membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0031419, GO:0015420, GO:0008083, GO:0005515, GO:0005509, cobalamin binding, ATPase-coupled vitamin B12 transmembrane transporter activity, growth factor activity, protein binding, calcium ion binding, GO:0031296, GO:0030890, GO:0015889, GO:0009235, GO:0007165, B cell costimulation, positive regulation of B cell proliferation, cobalamin transport, cobalamin metabolic process, signal transduction, 20 13 18 36 20 67 28 26 45 ENSG00000167778 chr12 53064316 53079420 - SPRYD3 protein_coding 84926 GO:0005737, cytoplasm, GO:0031267, small GTPase binding, GO:0007166, GO:0007010, cell surface receptor signaling pathway, cytoskeleton organization, 242 267 222 153 274 190 209 231 195 ENSG00000167779 chr12 53097436 53102345 + IGFBP6 protein_coding 3489 GO:0042568, GO:0005794, GO:0005615, GO:0005576, insulin-like growth factor binary complex, Golgi apparatus, extracellular space, extracellular region, GO:0042802, GO:0031995, GO:0031995, GO:0031994, GO:0005515, GO:0005102, GO:0001968, identical protein binding, insulin-like growth factor II binding, insulin-like growth factor II binding, insulin-like growth factor I binding, protein binding, signaling receptor binding, fibronectin binding, GO:0090090, GO:0044267, GO:0043567, GO:0016477, GO:0008285, GO:0007165, GO:0000187, negative regulation of canonical Wnt signaling pathway, cellular protein metabolic process, regulation of insulin-like growth factor receptor signaling pathway, cell migration, negative regulation of cell population proliferation, signal transduction, activation of MAPK activity, 0 0 0 6 0 0 0 4 9 ENSG00000167780 chr12 53103518 53124538 + SOAT2 protein_coding 8435 GO:0016021, GO:0005903, GO:0005789, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, brush border, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0034736, GO:0034736, GO:0016746, GO:0015485, GO:0015485, GO:0008374, GO:0005515, GO:0004772, GO:0000062, GO:0000062, cholesterol O-acyltransferase activity, cholesterol O-acyltransferase activity, transferase activity, transferring acyl groups, cholesterol binding, cholesterol binding, O-acyltransferase activity, protein binding, sterol O-acyltransferase activity, fatty-acyl-CoA binding, fatty-acyl-CoA binding, GO:0042632, GO:0034435, GO:0034435, GO:0034383, GO:0034379, GO:0033344, GO:0033344, GO:0030299, GO:0010742, GO:0008203, GO:0008203, cholesterol homeostasis, cholesterol esterification, cholesterol esterification, low-density lipoprotein particle clearance, very-low-density lipoprotein particle assembly, cholesterol efflux, cholesterol efflux, intestinal cholesterol absorption, macrophage derived foam cell differentiation, cholesterol metabolic process, cholesterol metabolic process, 0 0 0 3 0 5 10 1 0 ENSG00000167785 chr19 8806170 8832328 - ZNF558 protein_coding 148156 GO:0005575, GO:0000785, cellular_component, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0000122, biological_process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 21 36 68 51 78 107 58 53 81 ENSG00000167791 chr11 67518912 67524517 - CABP2 protein_coding This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 51475 GO:0048471, GO:0005886, GO:0005794, perinuclear region of cytoplasm, plasma membrane, Golgi apparatus, GO:0005515, GO:0005509, GO:0005246, protein binding, calcium ion binding, calcium channel regulator activity, GO:0007605, GO:0007601, GO:0007165, sensory perception of sound, visual perception, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000167792 chr11 67605653 67612554 + NDUFV1 protein_coding The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]. 4723 GO:0005829, GO:0005747, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005743, GO:0005739, cytosol, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0051539, GO:0051287, GO:0046872, GO:0010181, GO:0008137, GO:0005515, 4 iron, 4 sulfur cluster binding, NAD binding, metal ion binding, FMN binding, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0042775, GO:0032981, GO:0006120, GO:0006120, GO:0006120, GO:0006120, mitochondrial ATP synthesis coupled electron transport, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 168 159 215 308 214 286 292 165 205 ENSG00000167797 chr11 67506497 67508649 - CDK2AP2 protein_coding This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]. 10263 GO:0005874, GO:0005737, GO:0005634, microtubule, cytoplasm, nucleus, GO:0005515, protein binding, GO:2000134, GO:2000035, GO:0070507, negative regulation of G1/S transition of mitotic cell cycle, regulation of stem cell division, regulation of microtubule cytoskeleton organization, 99 133 146 108 211 235 116 98 178 ENSG00000167798 chr19 10037803 10074135 + C3P1 transcribed_unprocessed_pseudogene 388503 GO:0005615, extracellular space, GO:0004866, endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 2 0 ENSG00000167799 chr11 67627938 67629930 - NUDT8 protein_coding 254552 GO:0046872, GO:0016787, metal ion binding, hydrolase activity, 0 0 0 9 0 0 1 0 3 ENSG00000167800 chr11 67631303 67639560 - TBX10 protein_coding This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]. 347853 GO:0000785, GO:0000785, chromatin, chromatin, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0009653, GO:0006357, GO:0006357, GO:0001708, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, cell fate specification, 0 0 0 0 0 0 0 3 0 ENSG00000167807 chr19 10305427 10316009 - AC011511.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000167815 chr19 12796820 12801859 - PRDX2 protein_coding This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013]. 7001 GO:0070062, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytosol, cytoplasm, GO:0016209, GO:0016209, GO:0008379, GO:0008379, GO:0008379, GO:0005515, antioxidant activity, antioxidant activity, thioredoxin peroxidase activity, thioredoxin peroxidase activity, thioredoxin peroxidase activity, protein binding, GO:2001240, GO:0055114, GO:0048872, GO:0048538, GO:0045581, GO:0045454, GO:0045321, GO:0043066, GO:0042981, GO:0042744, GO:0042744, GO:0042098, GO:0034599, GO:0034599, GO:0033554, GO:0032496, GO:0032088, GO:0031665, GO:0030194, GO:0019430, GO:0019430, GO:0010310, GO:0006979, GO:0006979, GO:0006979, GO:0002536, GO:0000187, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, oxidation-reduction process, homeostasis of number of cells, thymus development, negative regulation of T cell differentiation, cell redox homeostasis, leukocyte activation, negative regulation of apoptotic process, regulation of apoptotic process, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, T cell proliferation, cellular response to oxidative stress, cellular response to oxidative stress, cellular response to stress, response to lipopolysaccharide, negative regulation of NF-kappaB transcription factor activity, negative regulation of lipopolysaccharide-mediated signaling pathway, positive regulation of blood coagulation, removal of superoxide radicals, removal of superoxide radicals, regulation of hydrogen peroxide metabolic process, response to oxidative stress, response to oxidative stress, response to oxidative stress, respiratory burst involved in inflammatory response, activation of MAPK activity, 18 21 48 112 64 105 94 56 97 ENSG00000167822 chr11 56134721 56140201 - OR8J3 protein_coding 81168 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000167825 chr11 55935456 55936400 - OR5I1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 10798 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000167840 chr17 5105541 5123116 - ZNF232 protein_coding 7775 GO:0043231, GO:0005829, GO:0005654, GO:0000785, intracellular membrane-bounded organelle, cytosol, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 4 11 15 7 30 9 7 11 ENSG00000167842 chr17 5486285 5490814 + MIS12 protein_coding 79003 GO:0005829, GO:0005634, GO:0000818, GO:0000777, GO:0000444, cytosol, nucleus, nuclear MIS12/MIND complex, condensed chromosome kinetochore, MIS12/MIND type complex, GO:0005515, protein binding, GO:0051382, GO:0051382, GO:0051315, GO:0051301, GO:0034501, GO:0007059, GO:0000070, kinetochore assembly, kinetochore assembly, attachment of mitotic spindle microtubules to kinetochore, cell division, protein localization to kinetochore, chromosome segregation, mitotic sister chromatid segregation, 106 98 120 192 150 219 176 102 151 ENSG00000167850 chr17 74541108 74546143 - CD300C protein_coding The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008]. 10871 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004888, GO:0004888, protein binding, transmembrane signaling receptor activity, transmembrane signaling receptor activity, GO:0050776, GO:0006968, GO:0002376, regulation of immune response, cellular defense response, immune system process, 35 11 19 21 21 2 6 9 7 ENSG00000167851 chr17 74466399 74484796 + CD300A protein_coding This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 11314 GO:0101003, GO:0070821, GO:0070062, GO:0016021, GO:0016020, GO:0005886, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, extracellular exosome, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0038023, GO:0008429, GO:0005515, GO:0004888, GO:0001786, signaling receptor activity, phosphatidylethanolamine binding, protein binding, transmembrane signaling receptor activity, phosphatidylserine binding, GO:2000417, GO:1902569, GO:1902567, GO:1902564, GO:0060101, GO:0051134, GO:0050859, GO:0050856, GO:0050776, GO:0048147, GO:0043407, GO:0043312, GO:0043305, GO:0034125, GO:0033007, GO:0032516, GO:0030889, GO:0007155, negative regulation of eosinophil migration, negative regulation of activation of Janus kinase activity, negative regulation of eosinophil activation, negative regulation of neutrophil activation, negative regulation of phagocytosis, engulfment, negative regulation of NK T cell activation, negative regulation of B cell receptor signaling pathway, regulation of T cell receptor signaling pathway, regulation of immune response, negative regulation of fibroblast proliferation, negative regulation of MAP kinase activity, neutrophil degranulation, negative regulation of mast cell degranulation, negative regulation of MyD88-dependent toll-like receptor signaling pathway, negative regulation of mast cell activation involved in immune response, positive regulation of phosphoprotein phosphatase activity, negative regulation of B cell proliferation, cell adhesion, 3412 4380 4080 1290 2472 1547 1657 2331 1397 ENSG00000167858 chr17 6789133 6831761 - TEKT1 protein_coding This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]. 83659 GO:0031514, GO:0015630, GO:0005874, GO:0005737, GO:0005634, motile cilium, microtubule cytoskeleton, microtubule, cytoplasm, nucleus, GO:0005515, protein binding, GO:0060294, GO:0060271, cilium movement involved in cell motility, cilium assembly, 0 0 0 0 1 6 1 0 0 ENSG00000167861 chr17 74950743 74973166 - HID1 protein_coding 283987 GO:0090498, GO:0070062, GO:0016020, GO:0005881, GO:0005829, GO:0005797, GO:0005797, GO:0005794, GO:0005737, GO:0000138, GO:0000138, extrinsic component of Golgi membrane, extracellular exosome, membrane, cytoplasmic microtubule, cytosol, Golgi medial cisterna, Golgi medial cisterna, Golgi apparatus, cytoplasm, Golgi trans cisterna, Golgi trans cisterna, GO:0005515, protein binding, 2 2 3 15 0 2 2 1 5 ENSG00000167862 chr17 75012670 75021261 + MRPL58 protein_coding The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]. 3396 GO:0005762, GO:0005762, GO:0005759, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, GO:0016150, GO:0004045, translation release factor activity, codon nonspecific, aminoacyl-tRNA hydrolase activity, GO:0070126, GO:0070126, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational termination, mitochondrial translational termination, mitochondrial translational elongation, 6 10 5 19 7 10 9 13 7 ENSG00000167863 chr17 75038863 75046985 - ATP5PD protein_coding Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]. 10476 GO:0005753, GO:0005743, GO:0005743, GO:0005739, GO:0005739, GO:0000274, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, mitochondrial proton-transporting ATP synthase, stator stalk, GO:0046933, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, protein binding, GO:0042776, GO:0042776, GO:0042407, GO:0015986, GO:0006754, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, ATP biosynthetic process, 181 130 170 182 149 174 118 138 106 ENSG00000167874 chr17 7855065 7856099 + TMEM88 protein_coding 92162 GO:0016021, GO:0005886, GO:0005886, GO:0005829, integral component of membrane, plasma membrane, plasma membrane, cytosol, GO:0030165, GO:0030165, GO:0005515, PDZ domain binding, PDZ domain binding, protein binding, GO:0090090, GO:0090090, GO:0090090, GO:0072659, GO:0050821, GO:0016055, GO:0007275, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, protein localization to plasma membrane, protein stabilization, Wnt signaling pathway, multicellular organism development, 129 209 254 180 210 252 174 127 270 ENSG00000167880 chr17 76004502 76027452 - EVPL protein_coding This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]. 2125 GO:0070062, GO:0045111, GO:0030057, GO:0016020, GO:0005882, GO:0005829, GO:0005829, GO:0005737, GO:0001533, GO:0001533, extracellular exosome, intermediate filament cytoskeleton, desmosome, membrane, intermediate filament, cytosol, cytosol, cytoplasm, cornified envelope, cornified envelope, GO:0045296, GO:0019215, GO:0005198, cadherin binding, intermediate filament binding, structural molecule activity, GO:0070268, GO:0045104, GO:0042060, GO:0030216, GO:0018149, GO:0008544, cornification, intermediate filament cytoskeleton organization, wound healing, keratinocyte differentiation, peptide cross-linking, epidermis development, 1 3 0 3 4 0 3 0 0 ENSG00000167881 chr17 76038775 76072653 - SRP68 protein_coding This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]. 6730 GO:0048500, GO:0005925, GO:0005840, GO:0005829, GO:0005829, GO:0005786, GO:0005786, GO:0005783, GO:0005730, signal recognition particle, focal adhesion, ribosome, cytosol, cytosol, signal recognition particle, endoplasmic reticulum targeting, signal recognition particle, endoplasmic reticulum targeting, endoplasmic reticulum, nucleolus, GO:0043022, GO:0030942, GO:0019904, GO:0008312, GO:0005515, GO:0005047, GO:0005047, GO:0003723, ribosome binding, endoplasmic reticulum signal peptide binding, protein domain specific binding, 7S RNA binding, protein binding, signal recognition particle binding, signal recognition particle binding, RNA binding, GO:0042493, GO:0006614, response to drug, SRP-dependent cotranslational protein targeting to membrane, 66 79 114 117 81 162 108 51 113 ENSG00000167889 chr17 76868456 76950393 + MGAT5B protein_coding The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]. 146664 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0030145, GO:0030144, GO:0030144, GO:0005515, manganese ion binding, alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity, alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity, protein binding, GO:0018242, GO:0006487, protein O-linked glycosylation via serine, protein N-linked glycosylation, 0 0 0 4 0 0 0 0 0 ENSG00000167895 chr17 78130770 78142968 + TMC8 protein_coding Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]. 147138 GO:0070062, GO:0031965, GO:0005887, GO:0005794, GO:0005789, GO:0005783, GO:0005737, GO:0005615, extracellular exosome, nuclear membrane, integral component of plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, extracellular space, GO:0140311, GO:0043120, GO:0008381, GO:0005515, protein sequestering activity, tumor necrosis factor binding, mechanosensitive ion channel activity, protein binding, GO:1902041, GO:0055069, GO:0034220, GO:0032091, GO:0031333, GO:0001558, regulation of extrinsic apoptotic signaling pathway via death domain receptors, zinc ion homeostasis, ion transmembrane transport, negative regulation of protein binding, negative regulation of protein-containing complex assembly, regulation of cell growth, 766 978 1535 1088 1195 1760 1021 915 1372 ENSG00000167900 chr17 78174075 78187233 - TK1 protein_coding The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]. 7083 GO:0005829, cytosol, GO:0042802, GO:0008270, GO:0005524, GO:0005515, GO:0004797, identical protein binding, zinc ion binding, ATP binding, protein binding, thymidine kinase activity, GO:0071897, GO:0051289, GO:0046104, GO:0043097, GO:0016310, GO:0009157, GO:0006139, DNA biosynthetic process, protein homotetramerization, thymidine metabolic process, pyrimidine nucleoside salvage, phosphorylation, deoxyribonucleoside monophosphate biosynthetic process, nucleobase-containing compound metabolic process, 19 9 12 18 33 24 20 25 6 ENSG00000167904 chr8 55696424 55773407 - TMEM68 protein_coding 137695 GO:0016021, integral component of membrane, GO:0016746, transferase activity, transferring acyl groups, 25 24 38 42 43 20 33 28 29 ENSG00000167910 chr8 58490178 58500236 - CYP7A1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]. 1581 GO:0043231, GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0020037, GO:0008395, GO:0008123, GO:0008123, GO:0008123, GO:0005506, heme binding, steroid hydroxylase activity, cholesterol 7-alpha-monooxygenase activity, cholesterol 7-alpha-monooxygenase activity, cholesterol 7-alpha-monooxygenase activity, iron ion binding, GO:0071397, GO:0071333, GO:0070857, GO:0070857, GO:0055114, GO:0045717, GO:0045542, GO:0045471, GO:0042632, GO:0042632, GO:0038183, GO:0032966, GO:0019216, GO:0016125, GO:0015721, GO:0010468, GO:0006707, GO:0006707, GO:0006699, GO:0006699, GO:0006699, GO:0006699, GO:0006699, cellular response to cholesterol, cellular response to glucose stimulus, regulation of bile acid biosynthetic process, regulation of bile acid biosynthetic process, oxidation-reduction process, negative regulation of fatty acid biosynthetic process, positive regulation of cholesterol biosynthetic process, response to ethanol, cholesterol homeostasis, cholesterol homeostasis, bile acid signaling pathway, negative regulation of collagen biosynthetic process, regulation of lipid metabolic process, sterol metabolic process, bile acid and bile salt transport, regulation of gene expression, cholesterol catabolic process, cholesterol catabolic process, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, 0 1 1 2 1 5 2 1 5 ENSG00000167912 chr8 59119040 59121346 + AC090152.1 antisense 100505501 5 1 4 4 3 7 9 2 7 ENSG00000167914 chr17 39953263 39977766 + GSDMA protein_coding 284110 GO:0048471, GO:0005886, GO:0005829, perinuclear region of cytoplasm, plasma membrane, cytosol, GO:0070273, GO:0005546, GO:0005515, GO:0001786, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, phosphatidylserine binding, GO:0070269, GO:0042742, GO:0006915, pyroptosis, defense response to bacterium, apoptotic process, 0 0 0 0 0 2 3 1 0 ENSG00000167916 chr17 40697991 40703750 - KRT24 protein_coding This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]. 192666 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0005515, GO:0005198, GO:0003674, protein binding, structural molecule activity, molecular_function, GO:0070268, GO:0031424, GO:0008150, cornification, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000167920 chr17 40819106 40836274 + TMEM99 protein_coding 147184 GO:0016021, integral component of membrane, 0 2 1 12 3 12 5 2 1 ENSG00000167925 chr17 42188799 42194532 - GHDC protein_coding 84514 GO:0035580, GO:0034774, GO:0016020, GO:0005783, GO:0005737, GO:0005635, GO:0005576, specific granule lumen, secretory granule lumen, membrane, endoplasmic reticulum, cytoplasm, nuclear envelope, extracellular region, GO:0016881, GO:0003674, acid-amino acid ligase activity, molecular_function, GO:0043312, GO:0008150, neutrophil degranulation, biological_process, 47 64 55 111 97 124 86 62 59 ENSG00000167930 chr16 234546 268971 + FAM234A protein_coding 83986 GO:0070062, GO:0016021, GO:0009986, GO:0009986, GO:0009986, extracellular exosome, integral component of membrane, cell surface, cell surface, cell surface, GO:0003674, molecular_function, GO:0008150, biological_process, 46 49 39 53 33 33 68 46 39 ENSG00000167941 chr17 43753731 43758788 - SOST protein_coding Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]. 50964 GO:0062023, GO:0032991, GO:0005794, GO:0005615, GO:0005576, collagen-containing extracellular matrix, protein-containing complex, Golgi apparatus, extracellular space, extracellular region, GO:0036122, GO:0008201, GO:0008134, GO:0005515, BMP binding, heparin binding, transcription factor binding, protein binding, GO:0090090, GO:0090090, GO:0071374, GO:0045893, GO:0031333, GO:0030514, GO:0030514, GO:0030279, GO:0030178, GO:0016055, GO:0009612, GO:0001503, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, cellular response to parathyroid hormone stimulus, positive regulation of transcription, DNA-templated, negative regulation of protein-containing complex assembly, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of ossification, negative regulation of Wnt signaling pathway, Wnt signaling pathway, response to mechanical stimulus, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000167962 chr16 1997654 2009823 - ZNF598 protein_coding Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012]. 90850 GO:0061630, GO:0061630, GO:0046872, GO:0043022, GO:0005515, GO:0003723, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ribosome binding, protein binding, RNA binding, GO:0072344, GO:0072344, GO:0016567, GO:0006513, rescue of stalled ribosome, rescue of stalled ribosome, protein ubiquitination, protein monoubiquitination, 215 243 271 234 227 201 219 177 222 ENSG00000167964 chr16 2140803 2154165 + RAB26 protein_coding Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]. 25837 GO:0098993, GO:0098993, GO:0031226, GO:0030667, GO:0005794, GO:0005768, GO:0000139, anchored component of synaptic vesicle membrane, anchored component of synaptic vesicle membrane, intrinsic component of plasma membrane, secretory granule membrane, Golgi apparatus, endosome, Golgi membrane, GO:0019002, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GMP binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:0099575, GO:0099575, GO:0045055, GO:0043001, GO:0035272, GO:0035272, GO:0017157, regulation of protein catabolic process at presynapse, modulating synaptic transmission, regulation of protein catabolic process at presynapse, modulating synaptic transmission, regulated exocytosis, Golgi to plasma membrane protein transport, exocrine system development, exocrine system development, regulation of exocytosis, 0 2 0 0 0 2 0 0 0 ENSG00000167965 chr16 2204248 2209416 + MLST8 protein_coding 64223 GO:0031932, GO:0031932, GO:0031931, GO:0031931, GO:0005829, GO:0005737, GO:0005654, TORC2 complex, TORC2 complex, TORC1 complex, TORC1 complex, cytosol, cytoplasm, nucleoplasm, GO:0043539, GO:0005515, protein serine/threonine kinase activator activity, protein binding, GO:1900034, GO:0071902, GO:0050731, GO:0043087, GO:0038202, GO:0032956, GO:0032956, GO:0032148, GO:0032008, GO:0031929, GO:0030838, GO:0016241, GO:0007050, regulation of cellular response to heat, positive regulation of protein serine/threonine kinase activity, positive regulation of peptidyl-tyrosine phosphorylation, regulation of GTPase activity, TORC1 signaling, regulation of actin cytoskeleton organization, regulation of actin cytoskeleton organization, activation of protein kinase B activity, positive regulation of TOR signaling, TOR signaling, positive regulation of actin filament polymerization, regulation of macroautophagy, cell cycle arrest, 17 14 22 35 21 53 25 19 29 ENSG00000167967 chr16 2223566 2235742 + E4F1 protein_coding The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. Alternative splicing results in multiple transcripts encoding different proteins. [provided by RefSeq, Jan 2014]. 1877 GO:0005819, GO:0005737, GO:0005654, GO:0000785, spindle, cytoplasm, nucleoplasm, chromatin, GO:0046872, GO:0035497, GO:0016740, GO:0005515, GO:0003700, GO:0001228, GO:0001227, GO:0000978, GO:0000977, metal ion binding, cAMP response element binding, transferase activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071850, GO:0051301, GO:0045944, GO:0040008, GO:0016567, GO:0016032, GO:0010564, GO:0009794, GO:0006357, GO:0006260, GO:0000122, mitotic cell cycle arrest, cell division, positive regulation of transcription by RNA polymerase II, regulation of growth, protein ubiquitination, viral process, regulation of cell cycle process, regulation of mitotic cell cycle, embryonic, regulation of transcription by RNA polymerase II, DNA replication, negative regulation of transcription by RNA polymerase II, 333 336 343 322 426 302 262 299 269 ENSG00000167968 chr16 2235816 2238711 + DNASE1L2 protein_coding 1775 GO:0005737, GO:0005634, GO:0005576, cytoplasm, nucleus, extracellular region, GO:0005509, GO:0004530, GO:0003677, calcium ion binding, deoxyribonuclease I activity, DNA binding, GO:0006308, GO:0006259, GO:0003335, GO:0001942, GO:0000737, DNA catabolic process, DNA metabolic process, corneocyte development, hair follicle development, DNA catabolic process, endonucleolytic, 17 13 17 29 21 13 10 36 16 ENSG00000167969 chr16 2239395 2252300 - ECI1 protein_coding This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]. 1632 GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0016863, GO:0004300, GO:0004165, GO:0004165, intramolecular oxidoreductase activity, transposing C=C bonds, enoyl-CoA hydratase activity, dodecenoyl-CoA delta-isomerase activity, dodecenoyl-CoA delta-isomerase activity, GO:0006635, GO:0006635, GO:0006635, GO:0006635, GO:0006635, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, fatty acid beta-oxidation, 43 30 24 29 18 31 45 31 25 ENSG00000167971 chr16 2177180 2196525 - CASKIN1 protein_coding 57524 GO:0016020, GO:0005737, GO:0005737, membrane, cytoplasm, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0007165, signal transduction, 73 72 86 114 122 108 110 101 87 ENSG00000167972 chr16 2275881 2340746 - ABCA3 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]. 21 GO:0097233, GO:0097232, GO:0097208, GO:0043231, GO:0016021, GO:0005886, GO:0005615, alveolar lamellar body membrane, lamellar body membrane, alveolar lamellar body, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, extracellular space, GO:0042626, GO:0016887, GO:0005524, GO:0005319, GO:0005319, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, lipid transporter activity, lipid transporter activity, GO:0055085, GO:0044267, GO:0042493, GO:0006869, transmembrane transport, cellular protein metabolic process, response to drug, lipid transport, 4 7 10 5 1 11 6 5 2 ENSG00000167977 chr16 2682475 2709030 + KCTD5 protein_coding 54442 GO:0031463, GO:0005829, GO:0005737, GO:0005634, Cul3-RING ubiquitin ligase complex, cytosol, cytoplasm, nucleus, GO:0097602, GO:0044877, GO:0042802, GO:0005515, cullin family protein binding, protein-containing complex binding, identical protein binding, protein binding, GO:0051260, GO:0043161, GO:0016032, protein homooligomerization, proteasome-mediated ubiquitin-dependent protein catabolic process, viral process, 131 165 177 165 244 159 154 176 148 ENSG00000167978 chr16 2752329 2772538 + SRRM2 protein_coding 23524 GO:0071013, GO:0071007, GO:0071005, GO:0016607, GO:0015030, GO:0005654, GO:0005634, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, nuclear speck, Cajal body, nucleoplasm, nucleus, GO:0070742, GO:0047485, GO:0003729, GO:0003723, C2H2 zinc finger domain binding, protein N-terminus binding, mRNA binding, RNA binding, GO:0000398, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 13969 17088 18826 13563 17252 16511 14454 12189 12754 ENSG00000167981 chr16 3432422 3443553 - ZNF597 protein_coding This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]. 146434 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 34 76 58 49 33 29 36 65 19 ENSG00000167984 chr16 3539033 3577400 - NLRC3 protein_coding This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 197358 GO:0048471, GO:0043231, GO:0034451, GO:0005829, GO:0005829, GO:0005737, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, centriolar satellite, cytosol, cytosol, cytoplasm, GO:0036312, GO:0005524, GO:0005515, GO:0003674, phosphatidylinositol 3-kinase regulatory subunit binding, ATP binding, protein binding, molecular_function, GO:1901223, GO:1900226, GO:1900016, GO:0050728, GO:0050680, GO:0048147, GO:0045824, GO:0043124, GO:0043124, GO:0042110, GO:0035556, GO:0032720, GO:0032720, GO:0032715, GO:0032715, GO:0032688, GO:0032687, GO:0032088, GO:0014067, GO:0007249, negative regulation of NIK/NF-kappaB signaling, negative regulation of NLRP3 inflammasome complex assembly, negative regulation of cytokine production involved in inflammatory response, negative regulation of inflammatory response, negative regulation of epithelial cell proliferation, negative regulation of fibroblast proliferation, negative regulation of innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of I-kappaB kinase/NF-kappaB signaling, T cell activation, intracellular signal transduction, negative regulation of tumor necrosis factor production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-6 production, negative regulation of interferon-beta production, negative regulation of interferon-alpha production, negative regulation of NF-kappaB transcription factor activity, negative regulation of phosphatidylinositol 3-kinase signaling, I-kappaB kinase/NF-kappaB signaling, 86 67 189 260 77 273 245 71 266 ENSG00000167985 chr11 61430042 61447529 + SDHAF2 protein_coding This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010]. 54949 GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005730, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, nucleolus, GO:0005515, protein binding, GO:0090090, GO:0034553, GO:0018293, GO:0018293, GO:0010719, GO:0006470, GO:0006121, GO:0006121, GO:0006099, negative regulation of canonical Wnt signaling pathway, mitochondrial respiratory chain complex II assembly, protein-FAD linkage, protein-FAD linkage, negative regulation of epithelial to mesenchymal transition, protein dephosphorylation, mitochondrial electron transport, succinate to ubiquinone, mitochondrial electron transport, succinate to ubiquinone, tricarboxylic acid cycle, 104 129 130 78 109 70 91 76 44 ENSG00000167986 chr11 61299451 61342596 - DDB1 protein_coding The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]. 1642 GO:0080008, GO:0080008, GO:0070062, GO:0032991, GO:0031465, GO:0031464, GO:0031461, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0000781, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, extracellular exosome, protein-containing complex, Cul4B-RING E3 ubiquitin ligase complex, Cul4A-RING E3 ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular space, chromosome, telomeric region, GO:0097602, GO:0071987, GO:0044877, GO:0030674, GO:0005515, GO:0003684, GO:0003677, cullin family protein binding, WD40-repeat domain binding, protein-containing complex binding, protein-macromolecule adaptor activity, protein binding, damaged DNA binding, DNA binding, GO:1902188, GO:1901990, GO:0070914, GO:0070911, GO:0051702, GO:0048511, GO:0046726, GO:0045732, GO:0045722, GO:0045070, GO:0043687, GO:0043161, GO:0043161, GO:0043066, GO:0042769, GO:0042752, GO:0035518, GO:0033683, GO:0016567, GO:0016567, GO:0016055, GO:0016032, GO:0010498, GO:0006974, GO:0006511, GO:0006511, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006283, GO:0006281, GO:0000717, GO:0000715, positive regulation of viral release from host cell, regulation of mitotic cell cycle phase transition, UV-damage excision repair, global genome nucleotide-excision repair, biological process involved in interaction with symbiont, rhythmic process, positive regulation by virus of viral protein levels in host cell, positive regulation of protein catabolic process, positive regulation of gluconeogenesis, positive regulation of viral genome replication, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, DNA damage response, detection of DNA damage, regulation of circadian rhythm, histone H2A monoubiquitination, nucleotide-excision repair, DNA incision, protein ubiquitination, protein ubiquitination, Wnt signaling pathway, viral process, proteasomal protein catabolic process, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, 206 276 321 319 210 339 303 204 248 ENSG00000167987 chr11 61130256 61161617 - VPS37C protein_coding VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008]. 55048 GO:0070062, GO:0043657, GO:0043231, GO:0031902, GO:0010008, GO:0000813, GO:0000813, GO:0000813, extracellular exosome, host cell, intracellular membrane-bounded organelle, late endosome membrane, endosome membrane, ESCRT I complex, ESCRT I complex, ESCRT I complex, GO:0048306, GO:0005515, calcium-dependent protein binding, protein binding, GO:0075733, GO:0043162, GO:0039702, GO:0036258, GO:0032509, GO:0019058, GO:0016236, GO:0016197, GO:0006623, GO:0006612, intracellular transport of virus, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, protein targeting to vacuole, protein targeting to membrane, 564 632 643 433 707 465 497 490 410 ENSG00000167992 chr11 61258286 61295424 - VWCE protein_coding 220001 GO:0005737, GO:0005737, GO:0005576, cytoplasm, cytoplasm, extracellular region, GO:0005515, GO:0005509, GO:0003674, protein binding, calcium ion binding, molecular_function, GO:0098586, GO:0098586, cellular response to virus, cellular response to virus, 4 0 0 1 3 0 2 0 0 ENSG00000167994 chr11 61897301 61920269 - RAB3IL1 protein_coding This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]. 5866 GO:0070319, GO:0005829, Golgi to plasma membrane transport vesicle, cytosol, GO:0042802, GO:0005515, GO:0005085, GO:0005085, identical protein binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0015031, GO:0006887, protein transport, exocytosis, 6 1 5 0 0 4 6 1 2 ENSG00000167995 chr11 61949821 61965515 + BEST1 protein_coding This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]. 7439 GO:0034707, GO:0016323, GO:0016021, GO:0016020, GO:0009925, GO:0005886, GO:0005829, chloride channel complex, basolateral plasma membrane, integral component of membrane, membrane, basal plasma membrane, plasma membrane, cytosol, GO:0042802, GO:0005254, GO:0005254, identical protein binding, chloride channel activity, chloride channel activity, GO:1902476, GO:0051924, GO:0050908, GO:0034220, GO:0030321, GO:0007601, GO:0006821, chloride transmembrane transport, regulation of calcium ion transport, detection of light stimulus involved in visual perception, ion transmembrane transport, transepithelial chloride transport, visual perception, chloride transport, 63768 70298 89396 101967 137590 124819 100323 119216 112473 ENSG00000167996 chr11 61959718 61967660 - FTH1 protein_coding This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 2495 GO:1904813, GO:1904724, GO:0070062, GO:0044754, GO:0008043, GO:0005829, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, autolysosome, intracellular ferritin complex, cytosol, cytoplasm, nucleus, extracellular region, GO:0008199, GO:0008198, GO:0005515, GO:0004322, ferric iron binding, ferrous iron binding, protein binding, ferroxidase activity, GO:0055114, GO:0048147, GO:0043312, GO:0008285, GO:0006955, GO:0006880, GO:0006880, GO:0006879, GO:0006826, oxidation-reduction process, negative regulation of fibroblast proliferation, neutrophil degranulation, negative regulation of cell population proliferation, immune response, intracellular sequestering of iron ion, intracellular sequestering of iron ion, cellular iron ion homeostasis, iron ion transport, 104919 117432 146637 159111 212987 194545 160441 189700 177644 ENSG00000168000 chr11 62690275 62709845 - BSCL2 protein_coding This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]. 26580 GO:0030176, GO:0030176, GO:0005811, GO:0005789, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, lipid droplet, endoplasmic reticulum membrane, GO:0005543, GO:0005515, phospholipid binding, protein binding, GO:0140042, GO:0140042, GO:0120162, GO:0050995, GO:0045444, GO:0034389, GO:0034389, GO:0019915, GO:0019915, GO:0016042, lipid droplet formation, lipid droplet formation, positive regulation of cold-induced thermogenesis, negative regulation of lipid catabolic process, fat cell differentiation, lipid droplet organization, lipid droplet organization, lipid storage, lipid storage, lipid catabolic process, 10 14 12 6 10 3 7 4 21 ENSG00000168002 chr11 62761544 62766710 + POLR2G protein_coding This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009]. 5436 GO:0005665, GO:0005665, GO:0005654, GO:0005654, GO:0005634, GO:0000932, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleoplasm, nucleus, P-body, GO:0031369, GO:0005515, GO:0003899, GO:0003727, GO:0003697, translation initiation factor binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, single-stranded RNA binding, single-stranded DNA binding, GO:0060964, GO:0060213, GO:0050434, GO:0045948, GO:0042795, GO:0035019, GO:0016070, GO:0008543, GO:0006915, GO:0006370, GO:0006368, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006351, GO:0006283, GO:0000398, GO:0000291, regulation of gene silencing by miRNA, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, positive regulation of viral transcription, positive regulation of translational initiation, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, RNA metabolic process, fibroblast growth factor receptor signaling pathway, apoptotic process, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, exonucleolytic, 123 126 133 103 140 120 84 128 118 ENSG00000168003 chr11 62856102 62888875 + SLC3A2 protein_coding This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]. 6520 GO:1990184, GO:0070062, GO:0042470, GO:0030054, GO:0016324, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0009986, GO:0009986, GO:0009925, GO:0005886, GO:0005886, GO:0005829, GO:0005765, GO:0005654, amino acid transport complex, extracellular exosome, melanosome, cell junction, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, cell surface, cell surface, basal plasma membrane, plasma membrane, plasma membrane, cytosol, lysosomal membrane, nucleoplasm, GO:0045296, GO:0015190, GO:0015180, GO:0015175, GO:0015175, GO:0015173, GO:0005515, GO:0005432, GO:0003824, GO:0003725, GO:0003723, cadherin binding, L-leucine transmembrane transporter activity, L-alanine transmembrane transporter activity, neutral amino acid transmembrane transporter activity, neutral amino acid transmembrane transporter activity, aromatic amino acid transmembrane transporter activity, protein binding, calcium:sodium antiporter activity, catalytic activity, double-stranded RNA binding, RNA binding, GO:1904273, GO:1903801, GO:1903801, GO:1902475, GO:0098713, GO:0050900, GO:0043330, GO:0035725, GO:0015827, GO:0015823, GO:0006865, GO:0006816, GO:0005975, L-alanine import across plasma membrane, L-leucine import across plasma membrane, L-leucine import across plasma membrane, L-alpha-amino acid transmembrane transport, leucine import across plasma membrane, leukocyte migration, response to exogenous dsRNA, sodium ion transmembrane transport, tryptophan transport, phenylalanine transport, amino acid transport, calcium ion transport, carbohydrate metabolic process, 603 964 877 2011 2065 2117 2055 2008 1747 ENSG00000168004 chr11 63461404 63491194 - HRASLS5 protein_coding 117245 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0102568, GO:0102567, GO:0052740, GO:0052739, GO:0016410, GO:0016410, GO:0008970, GO:0008970, GO:0004623, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, N-acyltransferase activity, N-acyltransferase activity, phospholipase A1 activity, phospholipase A1 activity, phospholipase A2 activity, phospholipase A2 activity, GO:0070292, GO:0070292, N-acylphosphatidylethanolamine metabolic process, N-acylphosphatidylethanolamine metabolic process, 11 27 50 0 4 7 0 1 0 ENSG00000168005 chr11 63813388 63827718 + SPINDOC protein_coding 144097 GO:0005515, protein binding, GO:0045892, GO:0045892, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, 32 16 29 26 25 56 26 18 33 ENSG00000168010 chr11 72814308 72843674 + ATG16L2 protein_coding 89849 GO:0005829, GO:0005776, GO:0005654, GO:0000421, cytosol, autophagosome, nucleoplasm, autophagosome membrane, GO:0039689, GO:0015031, GO:0006914, GO:0000045, GO:0000045, negative stranded viral RNA replication, protein transport, autophagy, autophagosome assembly, autophagosome assembly, 17741 16804 20264 19477 21621 21900 20213 15424 18525 ENSG00000168014 chr11 74012714 74171210 - C2CD3 protein_coding This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 26005 GO:0036064, GO:0034451, GO:0005829, GO:0005814, GO:0005813, ciliary basal body, centriolar satellite, cytosol, centriole, centrosome, GO:0005515, protein binding, GO:1905515, GO:0097711, GO:0071539, GO:0061511, GO:0042733, GO:0030162, GO:0021997, GO:0021915, GO:0016485, GO:0008589, GO:0007420, GO:0001947, GO:0001701, non-motile cilium assembly, ciliary basal body-plasma membrane docking, protein localization to centrosome, centriole elongation, embryonic digit morphogenesis, regulation of proteolysis, neural plate axis specification, neural tube development, protein processing, regulation of smoothened signaling pathway, brain development, heart looping, in utero embryonic development, 552 631 769 449 516 440 446 361 385 ENSG00000168016 chr3 36826820 36945098 - TRANK1 protein_coding 9881 4037 5046 5407 2771 4090 3892 2874 2896 3271 ENSG00000168026 chr3 39107704 39138903 + TTC21A protein_coding 199223 GO:0030991, GO:0005929, intraciliary transport particle A, cilium, GO:0061512, GO:0035721, GO:0030317, GO:0007286, protein localization to cilium, intraciliary retrograde transport, flagellated sperm motility, spermatid development, 56 84 86 100 173 214 122 130 130 ENSG00000168028 chr3 39406689 39412542 + RPSA protein_coding Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 3921 GO:0070062, GO:0022627, GO:0022627, GO:0016020, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0043236, GO:0043022, GO:0005515, GO:0005055, GO:0003735, GO:0003723, GO:0001618, laminin binding, ribosome binding, protein binding, laminin receptor activity, structural constituent of ribosome, RNA binding, virus receptor activity, GO:0046718, GO:0019083, GO:0007155, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0002181, GO:0000184, GO:0000028, viral entry into host cell, viral transcription, cell adhesion, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal small subunit assembly, 662 397 1166 2622 953 2737 1795 798 1789 ENSG00000168032 chr3 40387156 40428744 + ENTPD3 protein_coding This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]. 956 GO:0016021, GO:0016020, GO:0005886, GO:0005886, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0102491, GO:0102490, GO:0102489, GO:0102488, GO:0102487, GO:0102486, GO:0102485, GO:0045134, GO:0017111, GO:0017110, GO:0017110, GO:0005524, GO:0005515, GO:0004382, dGTP phosphohydrolase activity, 8-oxo-dGTP phosphohydrolase activity, GTP phosphohydrolase activity, dTTP phosphohydrolase activity, dUTP phosphohydrolase activity, dCTP phosphohydrolase activity, dATP phosphohydrolase activity, uridine-diphosphatase activity, nucleoside-triphosphatase activity, nucleoside-diphosphatase activity, nucleoside-diphosphatase activity, ATP binding, protein binding, guanosine-diphosphatase activity, GO:0034656, GO:0009143, GO:0009134, GO:0009134, nucleobase-containing small molecule catabolic process, nucleoside triphosphate catabolic process, nucleoside diphosphate catabolic process, nucleoside diphosphate catabolic process, 2 3 0 0 0 0 1 1 0 ENSG00000168036 chr3 41194741 41260096 + CTNNB1 protein_coding The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. 1499 GO:1990909, GO:1990907, GO:1990907, GO:0098831, GO:0098685, GO:0071944, GO:0070369, GO:0070062, GO:0048471, GO:0045211, GO:0045202, GO:0045177, GO:0042734, GO:0034750, GO:0032993, GO:0032991, GO:0031528, GO:0030877, GO:0030054, GO:0030054, GO:0030027, GO:0030018, GO:0016600, GO:0016342, GO:0016342, GO:0016328, GO:0016327, GO:0016323, GO:0016020, GO:0005938, GO:0005925, GO:0005923, GO:0005916, GO:0005912, GO:0005912, GO:0005911, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0000922, GO:0000791, Wnt signalosome, beta-catenin-TCF complex, beta-catenin-TCF complex, presynaptic active zone cytoplasmic component, Schaffer collateral - CA1 synapse, cell periphery, beta-catenin-TCF7L2 complex, extracellular exosome, perinuclear region of cytoplasm, postsynaptic membrane, synapse, apical part of cell, presynaptic membrane, Scrib-APC-beta-catenin complex, protein-DNA complex, protein-containing complex, microvillus membrane, beta-catenin destruction complex, cell junction, cell junction, lamellipodium, Z disc, flotillin complex, catenin complex, catenin complex, lateral plasma membrane, apicolateral plasma membrane, basolateral plasma membrane, membrane, cell cortex, focal adhesion, bicellular tight junction, fascia adherens, adherens junction, adherens junction, cell-cell junction, plasma membrane, cytosol, cytosol, centrosome, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, spindle pole, euchromatin, GO:0097718, GO:0070491, GO:0070411, GO:0046332, GO:0045296, GO:0045296, GO:0045296, GO:0045294, GO:0045294, GO:0044325, GO:0035257, GO:0035257, GO:0035257, GO:0030331, GO:0019903, GO:0019903, GO:0019901, GO:0019900, GO:0019899, GO:0008134, GO:0008134, GO:0008022, GO:0008013, GO:0005515, GO:0003713, GO:0003713, GO:0003713, GO:0003682, GO:0001102, GO:0001085, GO:0001085, disordered domain specific binding, repressing transcription factor binding, I-SMAD binding, SMAD binding, cadherin binding, cadherin binding, cadherin binding, alpha-catenin binding, alpha-catenin binding, ion channel binding, nuclear hormone receptor binding, nuclear hormone receptor binding, nuclear hormone receptor binding, estrogen receptor binding, protein phosphatase binding, protein phosphatase binding, protein kinase binding, kinase binding, enzyme binding, transcription factor binding, transcription factor binding, protein C-terminus binding, beta-catenin binding, protein binding, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, chromatin binding, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, RNA polymerase II transcription factor binding, GO:2001234, GO:2000144, GO:2000017, GO:2000008, GO:1990791, GO:1990403, GO:1990138, GO:1904954, GO:1904948, GO:1904888, GO:1904886, GO:1904837, GO:1904798, GO:1904793, GO:1904501, GO:1903204, GO:0098609, GO:0097091, GO:0090279, GO:0072182, GO:0072079, GO:0072054, GO:0072053, GO:0072033, GO:0071681, GO:0071363, GO:0070602, GO:0061550, GO:0061549, GO:0061324, GO:0061198, GO:0061154, GO:0060916, GO:0060828, GO:0060789, GO:0060769, GO:0060742, GO:0060492, GO:0060484, GO:0060479, GO:0060441, GO:0060440, GO:0060070, GO:0060070, GO:0060066, GO:0051973, GO:0051884, GO:0051571, GO:0051149, GO:0051145, GO:0051091, GO:0050808, GO:0050767, GO:0048715, GO:0048660, GO:0048643, GO:0048617, GO:0048599, GO:0048538, GO:0048489, GO:0048469, GO:0048145, GO:0048096, GO:0045976, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045765, GO:0045743, GO:0045671, GO:0045669, GO:0045603, GO:0045453, GO:0044338, GO:0044336, GO:0044334, GO:0043525, GO:0043410, GO:0043161, GO:0043123, GO:0043066, GO:0043065, GO:0042733, GO:0042493, GO:0042475, GO:0042129, GO:0036520, GO:0036023, GO:0035995, GO:0035635, GO:0035315, GO:0035116, GO:0035115, GO:0035112, GO:0035050, GO:0034394, GO:0034333, GO:0033234, GO:0033077, GO:0032968, GO:0032481, GO:0032355, GO:0032331, GO:0032212, GO:0031641, GO:0031069, GO:0031016, GO:0030997, GO:0030902, GO:0030539, GO:0030316, GO:0022009, GO:0021819, GO:0019827, GO:0016525, GO:0016055, GO:0016032, GO:0010909, GO:0010718, GO:0009954, GO:0009950, GO:0009948, GO:0008285, GO:0007403, GO:0007398, GO:0007268, GO:0007223, GO:0007160, GO:0007155, GO:0003340, GO:0003338, GO:0003266, GO:0002089, GO:0002053, GO:0002052, GO:0001840, GO:0001837, GO:0001764, GO:0001711, GO:0001708, GO:0001702, GO:0001701, GO:0001658, GO:0001569, GO:0000904, GO:0000578, GO:0000209, GO:0000122, negative regulation of apoptotic signaling pathway, positive regulation of DNA-templated transcription, initiation, positive regulation of determination of dorsal identity, regulation of protein localization to cell surface, dorsal root ganglion development, embryonic brain development, neuron projection extension, canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation, midbrain dopaminergic neuron differentiation, cranial skeletal system development, beta-catenin destruction complex disassembly, beta-catenin-TCF complex assembly, positive regulation of core promoter binding, regulation of euchromatin binding, positive regulation of chromatin-mediated maintenance of transcription, negative regulation of oxidative stress-induced neuron death, cell-cell adhesion, synaptic vesicle clustering, regulation of calcium ion import, regulation of nephron tubule epithelial cell differentiation, nephron tubule formation, renal outer medulla development, renal inner medulla development, renal vesicle formation, cellular response to indole-3-methanol, cellular response to growth factor stimulus, regulation of centromeric sister chromatid cohesion, cranial ganglion development, sympathetic ganglion development, canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation, fungiform papilla formation, endothelial tube morphogenesis, mesenchymal cell proliferation involved in lung development, regulation of canonical Wnt signaling pathway, hair follicle placode formation, positive regulation of epithelial cell proliferation involved in prostate gland development, epithelial cell differentiation involved in prostate gland development, lung induction, lung-associated mesenchyme development, lung cell differentiation, epithelial tube branching involved in lung morphogenesis, trachea formation, canonical Wnt signaling pathway, canonical Wnt signaling pathway, oviduct development, positive regulation of telomerase activity, regulation of timing of anagen, positive regulation of histone H3-K4 methylation, positive regulation of muscle cell differentiation, smooth muscle cell differentiation, positive regulation of DNA-binding transcription factor activity, synapse organization, regulation of neurogenesis, negative regulation of oligodendrocyte differentiation, regulation of smooth muscle cell proliferation, positive regulation of skeletal muscle tissue development, embryonic foregut morphogenesis, oocyte development, thymus development, synaptic vesicle transport, cell maturation, regulation of fibroblast proliferation, chromatin-mediated maintenance of transcription, negative regulation of mitotic cell cycle, embryonic, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of angiogenesis, positive regulation of fibroblast growth factor receptor signaling pathway, negative regulation of osteoclast differentiation, positive regulation of osteoblast differentiation, positive regulation of endothelial cell differentiation, bone resorption, canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation, canonical Wnt signaling pathway involved in negative regulation of apoptotic process, canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition, positive regulation of neuron apoptotic process, positive regulation of MAPK cascade, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of apoptotic process, embryonic digit morphogenesis, response to drug, odontogenesis of dentin-containing tooth, regulation of T cell proliferation, astrocyte-dopaminergic neuron signaling, embryonic skeletal limb joint morphogenesis, detection of muscle stretch, entry of bacterium into host cell, hair cell differentiation, embryonic hindlimb morphogenesis, embryonic forelimb morphogenesis, genitalia morphogenesis, embryonic heart tube development, protein localization to cell surface, adherens junction assembly, negative regulation of protein sumoylation, T cell differentiation in thymus, positive regulation of transcription elongation from RNA polymerase II promoter, positive regulation of type I interferon production, response to estradiol, negative regulation of chondrocyte differentiation, positive regulation of telomere maintenance via telomerase, regulation of myelination, hair follicle morphogenesis, pancreas development, regulation of centriole-centriole cohesion, hindbrain development, male genitalia development, osteoclast differentiation, central nervous system vasculogenesis, layer formation in cerebral cortex, stem cell population maintenance, negative regulation of angiogenesis, Wnt signaling pathway, viral process, positive regulation of heparan sulfate proteoglycan biosynthetic process, positive regulation of epithelial to mesenchymal transition, proximal/distal pattern formation, dorsal/ventral axis specification, anterior/posterior axis specification, negative regulation of cell population proliferation, glial cell fate determination, ectoderm development, chemical synaptic transmission, Wnt signaling pathway, calcium modulating pathway, cell-matrix adhesion, cell adhesion, negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis, metanephros morphogenesis, regulation of secondary heart field cardioblast proliferation, lens morphogenesis in camera-type eye, positive regulation of mesenchymal cell proliferation, positive regulation of neuroblast proliferation, neural plate development, epithelial to mesenchymal transition, neuron migration, endodermal cell fate commitment, cell fate specification, gastrulation with mouth forming second, in utero embryonic development, branching involved in ureteric bud morphogenesis, branching involved in blood vessel morphogenesis, cell morphogenesis involved in differentiation, embryonic axis specification, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 1364 1210 1963 1410 1308 1790 1363 1060 1328 ENSG00000168038 chr3 41246599 41962430 - ULK4 protein_coding This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]. 54986 GO:0106311, GO:0106310, GO:0005524, protein threonine kinase activity, protein serine kinase activity, ATP binding, GO:2001222, GO:1900744, GO:0090036, GO:0046328, GO:0043408, GO:0010975, GO:0006468, GO:0000226, regulation of neuron migration, regulation of p38MAPK cascade, regulation of protein kinase C signaling, regulation of JNK cascade, regulation of MAPK cascade, regulation of neuron projection development, protein phosphorylation, microtubule cytoskeleton organization, 55 35 68 78 26 59 75 59 44 ENSG00000168040 chr11 70203163 70207390 + FADD protein_coding The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]. 8772 GO:0097342, GO:0045121, GO:0044297, GO:0043005, GO:0031265, GO:0031265, GO:0031264, GO:0031264, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, ripoptosome, membrane raft, cell body, neuron projection, CD95 death-inducing signaling complex, CD95 death-inducing signaling complex, death-inducing signaling complex, death-inducing signaling complex, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0089720, GO:0089720, GO:0044877, GO:0042802, GO:0035877, GO:0033612, GO:0032813, GO:0005515, GO:0005164, GO:0005123, GO:0002020, caspase binding, caspase binding, protein-containing complex binding, identical protein binding, death effector domain binding, receptor serine/threonine kinase binding, tumor necrosis factor receptor superfamily binding, protein binding, tumor necrosis factor receptor binding, death receptor binding, protease binding, GO:2001238, GO:2001238, GO:2000454, GO:1902042, GO:1902041, GO:0097527, GO:0097202, GO:0097192, GO:0097191, GO:0097191, GO:0097191, GO:0097190, GO:0097190, GO:0097049, GO:0071550, GO:0071260, GO:0070236, GO:0060546, GO:0060340, GO:0051607, GO:0048538, GO:0048536, GO:0048535, GO:0048148, GO:0045944, GO:0045862, GO:0045651, GO:0045087, GO:0043278, GO:0043123, GO:0043065, GO:0043065, GO:0043029, GO:0042104, GO:0036462, GO:0036462, GO:0035666, GO:0034138, GO:0033077, GO:0032760, GO:0032757, GO:0032729, GO:0016032, GO:0008625, GO:0007166, GO:0006919, GO:0006915, GO:0002821, GO:0001916, GO:0001822, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of extrinsic apoptotic signaling pathway, positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of extrinsic apoptotic signaling pathway via death domain receptors, necroptotic signaling pathway, activation of cysteine-type endopeptidase activity, extrinsic apoptotic signaling pathway in absence of ligand, extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, apoptotic signaling pathway, motor neuron apoptotic process, death-inducing signaling complex assembly, cellular response to mechanical stimulus, negative regulation of activation-induced cell death of T cells, negative regulation of necroptotic process, positive regulation of type I interferon-mediated signaling pathway, defense response to virus, thymus development, spleen development, lymph node development, behavioral response to cocaine, positive regulation of transcription by RNA polymerase II, positive regulation of proteolysis, positive regulation of macrophage differentiation, innate immune response, response to morphine, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, positive regulation of apoptotic process, T cell homeostasis, positive regulation of activated T cell proliferation, TRAIL-activated apoptotic signaling pathway, TRAIL-activated apoptotic signaling pathway, TRIF-dependent toll-like receptor signaling pathway, toll-like receptor 3 signaling pathway, T cell differentiation in thymus, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interferon-gamma production, viral process, extrinsic apoptotic signaling pathway via death domain receptors, cell surface receptor signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, positive regulation of adaptive immune response, positive regulation of T cell mediated cytotoxicity, kidney development, 404 268 559 36 39 51 36 56 37 ENSG00000168056 chr11 65538805 65558930 - LTBP3 protein_coding The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]. 4054 GO:0070062, GO:0062023, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, extracellular region, extracellular region, GO:0050431, GO:0005509, transforming growth factor beta binding, calcium ion binding, GO:2000741, GO:1902462, GO:0060430, GO:0060349, GO:0048251, GO:0046849, GO:0045780, GO:0036363, GO:0032331, GO:0030502, GO:0007179, positive regulation of mesenchymal stem cell differentiation, positive regulation of mesenchymal stem cell proliferation, lung saccule development, bone morphogenesis, elastic fiber assembly, bone remodeling, positive regulation of bone resorption, transforming growth factor beta activation, negative regulation of chondrocyte differentiation, negative regulation of bone mineralization, transforming growth factor beta receptor signaling pathway, 72 69 116 218 52 208 157 72 147 ENSG00000168060 chr11 65044818 65058549 - NAALADL1 protein_coding 10004 GO:0016324, GO:0016021, GO:0016021, apical plasma membrane, integral component of membrane, integral component of membrane, GO:0042803, GO:0008270, GO:0008237, GO:0008233, GO:0005509, GO:0004180, GO:0004177, protein homodimerization activity, zinc ion binding, metallopeptidase activity, peptidase activity, calcium ion binding, carboxypeptidase activity, aminopeptidase activity, GO:0043171, GO:0006508, peptide catabolic process, proteolysis, 2 2 9 9 2 10 9 3 21 ENSG00000168061 chr11 65040901 65044828 + SAC3D1 protein_coding 29901 GO:0005819, GO:0005813, GO:0005737, GO:0005634, spindle, centrosome, cytoplasm, nucleus, GO:0005515, protein binding, GO:0051301, GO:0051298, GO:0051225, cell division, centrosome duplication, spindle assembly, 2 0 2 4 0 0 6 1 2 ENSG00000168062 chr11 64987943 64997045 - BATF2 protein_coding 116071 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0043011, GO:0042832, GO:0006357, myeloid dendritic cell differentiation, defense response to protozoan, regulation of transcription by RNA polymerase II, 55 28 40 43 45 25 49 22 54 ENSG00000168065 chr11 64555626 64572875 + SLC22A11 protein_coding The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 55867 GO:0070062, GO:0016324, GO:0009897, GO:0005887, GO:0005886, extracellular exosome, apical plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0015347, GO:0008514, GO:0005515, GO:0005452, sodium-independent organic anion transmembrane transporter activity, organic anion transmembrane transporter activity, protein binding, inorganic anion exchanger activity, GO:0055085, GO:0046415, GO:0015711, GO:0015711, GO:0015698, transmembrane transport, urate metabolic process, organic anion transport, organic anion transport, inorganic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000168066 chr11 64764606 64778786 - SF1 protein_coding This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 7536 GO:0016604, GO:0005840, GO:0005681, GO:0005654, GO:0005654, GO:0005634, GO:0005634, nuclear body, ribosome, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0045131, GO:0042802, GO:0008270, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003714, pre-mRNA branch point binding, identical protein binding, zinc ion binding, protein binding, mRNA binding, RNA binding, RNA binding, transcription corepressor activity, GO:1903507, GO:0050810, GO:0048662, GO:0033327, GO:0030575, GO:0030238, GO:0000398, GO:0000398, GO:0000389, GO:0000381, GO:0000245, negative regulation of nucleic acid-templated transcription, regulation of steroid biosynthetic process, negative regulation of smooth muscle cell proliferation, Leydig cell differentiation, nuclear body organization, male sex determination, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA 3'-splice site recognition, regulation of alternative mRNA splicing, via spliceosome, spliceosomal complex assembly, 6947 8115 8792 5339 7560 7302 5394 5461 5737 ENSG00000168067 chr11 64784914 64803241 - MAP4K2 protein_coding The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 5871 GO:0016323, GO:0000139, basolateral plasma membrane, Golgi membrane, GO:0106311, GO:0106310, GO:0031435, GO:0008349, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, mitogen-activated protein kinase kinase kinase binding, MAP kinase kinase kinase kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0046330, GO:0045087, GO:0035556, GO:0007257, GO:0007254, GO:0006955, GO:0006903, GO:0006468, GO:0000185, positive regulation of JNK cascade, innate immune response, intracellular signal transduction, activation of JUN kinase activity, JNK cascade, immune response, vesicle targeting, protein phosphorylation, activation of MAPKKK activity, 794 1007 1107 596 1001 853 689 705 841 ENSG00000168070 chr11 64937517 64972085 - MAJIN protein_coding 283129 GO:0005639, GO:0005639, GO:0000781, GO:0000781, integral component of nuclear inner membrane, integral component of nuclear inner membrane, chromosome, telomeric region, chromosome, telomeric region, GO:0003677, DNA binding, GO:0070197, GO:0070197, GO:0045141, GO:0007129, GO:0007129, meiotic attachment of telomere to nuclear envelope, meiotic attachment of telomere to nuclear envelope, meiotic telomere clustering, homologous chromosome pairing at meiosis, homologous chromosome pairing at meiosis, 3 1 4 2 0 5 0 1 2 ENSG00000168071 chr11 64340223 64357534 + CCDC88B protein_coding This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]. 283234 GO:0016020, GO:0005813, GO:0005794, GO:0005783, GO:0005737, membrane, centrosome, Golgi apparatus, endoplasmic reticulum, cytoplasm, GO:0051959, GO:0008017, GO:0005515, dynein light intermediate chain binding, microtubule binding, protein binding, GO:0050870, GO:0042832, GO:0042102, GO:0031122, GO:0030705, GO:0001819, positive regulation of T cell activation, defense response to protozoan, positive regulation of T cell proliferation, cytoplasmic microtubule organization, cytoskeleton-dependent intracellular transport, positive regulation of cytokine production, 4478 5082 7035 3394 5492 5032 3927 4331 4565 ENSG00000168077 chr8 27633868 27676776 + SCARA3 protein_coding This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 51435 GO:0062023, GO:0016021, GO:0005789, GO:0005615, GO:0005581, GO:0000139, collagen-containing extracellular matrix, integral component of membrane, endoplasmic reticulum membrane, extracellular space, collagen trimer, Golgi membrane, GO:0005515, GO:0005044, protein binding, scavenger receptor activity, GO:0034138, GO:0009650, GO:0006979, GO:0006897, toll-like receptor 3 signaling pathway, UV protection, response to oxidative stress, endocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000168078 chr8 27809620 27838095 - PBK protein_coding 0 0 0 0 2 0 4 1 0 ENSG00000168079 chr8 27869882 27992727 - SCARA5 protein_coding 286133 GO:0009897, GO:0005887, external side of plasma membrane, integral component of plasma membrane, GO:0070287, GO:0005044, ferritin receptor activity, scavenger receptor activity, GO:0070207, GO:0034755, GO:0034605, GO:0006897, GO:0006879, protein homotrimerization, iron ion transmembrane transport, cellular response to heat, endocytosis, cellular iron ion homeostasis, 0 0 1 0 0 0 0 0 0 ENSG00000168081 chr8 28316986 28343355 + PNOC protein_coding This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include nociceptin, nocistatin, and orphanin FQ2 (OFQ2). Nociceptin, also known as orphanin FQ, is a 17-amino acid neuropeptide that binds to the nociceptin receptor to induce increased pain sensitivity, and may additionally regulate body temperature, learning and memory, and hunger. Another product of the encoded preproprotein, nocistatin, may inhibit the effects of nociceptin. [provided by RefSeq, Jul 2015]. 5368 GO:0043679, GO:0043025, GO:0030425, GO:0005886, GO:0005576, axon terminus, neuronal cell body, dendrite, plasma membrane, extracellular region, GO:0031628, GO:0005184, GO:0001515, opioid receptor binding, neuropeptide hormone activity, opioid peptide activity, GO:0007600, GO:0007565, GO:0007268, GO:0007218, GO:0007186, GO:0007165, sensory perception, female pregnancy, chemical synaptic transmission, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, 0 0 1 0 6 2 4 1 0 ENSG00000168090 chr7 100088954 100092200 + COPS6 protein_coding The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]. 10980 GO:0048471, GO:0008180, GO:0008180, GO:0005829, GO:0005654, GO:0005654, perinuclear region of cytoplasm, COP9 signalosome, COP9 signalosome, cytosol, nucleoplasm, nucleoplasm, GO:0070122, GO:0008237, GO:0005515, isopeptidase activity, metallopeptidase activity, protein binding, GO:0043687, GO:0016032, GO:0006283, GO:0000715, GO:0000338, post-translational protein modification, viral process, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA damage recognition, protein deneddylation, 183 150 165 146 162 177 111 155 108 ENSG00000168092 chr11 117144267 117176894 + PAFAH1B2 protein_coding Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]. 5049 GO:1904813, GO:0070062, GO:0034774, GO:0008247, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005576, GO:0001650, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, 1-alkyl-2-acetylglycerophosphocholine esterase complex, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, extracellular region, fibrillar center, GO:0047179, GO:0046982, GO:0044877, GO:0042803, GO:0005515, GO:0003847, platelet-activating factor acetyltransferase activity, protein heterodimerization activity, protein-containing complex binding, protein homodimerization activity, protein binding, 1-alkyl-2-acetylglycerophosphocholine esterase activity, GO:0043312, GO:0016239, GO:0016042, GO:0007420, GO:0007283, GO:0006629, neutrophil degranulation, positive regulation of macroautophagy, lipid catabolic process, brain development, spermatogenesis, lipid metabolic process, 685 851 986 293 641 423 336 494 361 ENSG00000168096 chr16 4696510 4734378 - ANKS3 protein_coding 124401 GO:0005929, GO:0005737, cilium, cytoplasm, GO:0005515, protein binding, 11 5 17 33 20 55 19 22 11 ENSG00000168101 chr16 4693694 4695859 + NUDT16L1 protein_coding 84309 GO:0005634, GO:0005634, nucleus, nucleus, GO:1990174, GO:0098519, GO:0050072, GO:0050072, GO:0050072, GO:0042803, GO:0030515, GO:0030515, GO:0005515, GO:0003723, phosphodiesterase decapping endonuclease activity, nucleotide phosphatase activity, acting on free nucleotides, m7G(5')pppN diphosphatase activity, m7G(5')pppN diphosphatase activity, m7G(5')pppN diphosphatase activity, protein homodimerization activity, snoRNA binding, snoRNA binding, protein binding, RNA binding, GO:2001033, GO:0090502, GO:0016311, GO:0016077, GO:0006402, negative regulation of double-strand break repair via nonhomologous end joining, RNA phosphodiester bond hydrolysis, endonucleolytic, dephosphorylation, snoRNA catabolic process, mRNA catabolic process, 164 182 200 101 163 115 112 139 117 ENSG00000168116 chr6 57046532 57055239 + KIAA1586 protein_coding 57691 GO:0061665, GO:0061665, SUMO ligase activity, SUMO ligase activity, GO:0016925, GO:0016925, GO:0016925, protein sumoylation, protein sumoylation, protein sumoylation, 6 10 33 15 11 17 19 8 9 ENSG00000168118 chr1 229271062 229305894 + RAB4A protein_coding This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]. 5867 GO:0098993, GO:0098837, GO:0070062, GO:0055038, GO:0048471, GO:0043231, GO:0032593, GO:0031982, GO:0031901, GO:0030659, GO:0005886, GO:0005829, GO:0005768, anchored component of synaptic vesicle membrane, postsynaptic recycling endosome, extracellular exosome, recycling endosome membrane, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, insulin-responsive compartment, vesicle, early endosome membrane, cytoplasmic vesicle membrane, plasma membrane, cytosol, endosome, GO:0051117, GO:0035255, GO:0019905, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0001671, ATPase binding, ionotropic glutamate receptor binding, syntaxin binding, GDP binding, GTP binding, protein binding, GTPase activity, ATPase activator activity, GO:0032781, GO:0032482, GO:0030100, GO:0019882, GO:0015031, GO:0006661, positive regulation of ATPase activity, Rab protein signal transduction, regulation of endocytosis, antigen processing and presentation, protein transport, phosphatidylinositol biosynthetic process, 39 25 56 58 31 88 57 44 65 ENSG00000168122 chr21 13095305 13113790 - ZNF355P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000168124 chr16 3204247 3205188 + OR1F1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 4992 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000168126 chr6 27937465 27938403 + OR2W6P unprocessed_pseudogene 18 26 19 12 4 11 15 23 5 ENSG00000168129 chr2 82856826 82857384 + DHFRP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000168131 chr6 27911185 27912396 - OR2B2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81697 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 3 1 4 0 3 0 3 5 1 ENSG00000168135 chr22 38426327 38455199 - KCNJ4 protein_coding Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 3761 GO:0045211, GO:0030659, GO:0016323, GO:0008076, GO:0005886, GO:0005886, postsynaptic membrane, cytoplasmic vesicle membrane, basolateral plasma membrane, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0030165, GO:0005515, GO:0005242, PDZ domain binding, protein binding, inward rectifier potassium channel activity, GO:1990573, GO:0061337, GO:0034765, GO:0006813, potassium ion import across plasma membrane, cardiac conduction, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000168137 chr3 9397615 9479240 + SETD5 protein_coding This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]. 55209 GO:0016593, GO:0005654, GO:0005634, GO:0000791, Cdc73/Paf1 complex, nucleoplasm, nucleus, euchromatin, GO:0046975, GO:0046974, histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K9 specific), GO:1902275, GO:0097198, GO:0051963, GO:0051567, GO:0050890, GO:0035065, GO:0032784, GO:0016569, regulation of chromatin organization, histone H3-K36 trimethylation, regulation of synapse assembly, histone H3-K9 methylation, cognition, regulation of histone acetylation, regulation of DNA-templated transcription, elongation, covalent chromatin modification, 1191 1159 1894 939 1009 1027 954 744 824 ENSG00000168140 chr16 4371848 4383528 + VASN protein_coding 114990 GO:0070062, GO:0070062, GO:0031012, GO:0016021, GO:0009986, GO:0005886, GO:0005765, GO:0005739, GO:0005615, GO:0005615, extracellular exosome, extracellular exosome, extracellular matrix, integral component of membrane, cell surface, plasma membrane, lysosomal membrane, mitochondrion, extracellular space, extracellular space, GO:0050431, GO:0050431, GO:0045296, GO:0005515, transforming growth factor beta binding, transforming growth factor beta binding, cadherin binding, protein binding, GO:0071461, GO:0071456, GO:0030512, GO:0030512, GO:0030512, GO:0010719, cellular response to redox state, cellular response to hypoxia, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of epithelial to mesenchymal transition, 0 0 0 0 0 0 0 0 0 ENSG00000168143 chr6 54846771 54942022 + FAM83B protein_coding 222584 GO:0016020, GO:0016020, GO:0005737, GO:0005737, membrane, membrane, cytoplasm, cytoplasm, GO:0036313, GO:0036312, GO:0019901, GO:0019901, GO:0019901, GO:0005515, GO:0005154, GO:0004630, phosphatidylinositol 3-kinase catalytic subunit binding, phosphatidylinositol 3-kinase regulatory subunit binding, protein kinase binding, protein kinase binding, protein kinase binding, protein binding, epidermal growth factor receptor binding, phospholipase D activity, GO:0008283, GO:0007173, GO:0007173, GO:0007173, GO:0007165, cell population proliferation, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000168148 chr1 228424845 228425325 - HIST3H3 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is located separately from the other H3 genes that are in the histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8290 GO:0070062, GO:0005654, GO:0005634, GO:0000786, GO:0000781, extracellular exosome, nucleoplasm, nucleus, nucleosome, chromosome, telomeric region, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0016233, GO:0006334, GO:0006334, GO:0006303, telomere capping, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, 0 0 0 0 0 0 0 0 0 ENSG00000168152 chr4 82900684 82919969 + THAP9 protein_coding 79725 GO:0046872, GO:0043565, GO:0016740, GO:0004803, GO:0004803, GO:0003677, metal ion binding, sequence-specific DNA binding, transferase activity, transposase activity, transposase activity, DNA binding, GO:0015074, GO:0006313, GO:0006313, GO:0006310, DNA integration, transposition, DNA-mediated, transposition, DNA-mediated, DNA recombination, 286 299 275 194 257 355 240 151 228 ENSG00000168158 chr16 3355889 3357294 + OR2C1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 4993 GO:0016021, GO:0005938, GO:0005886, integral component of membrane, cell cortex, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000168159 chr1 228487061 228495766 + RNF187 protein_coding 149603 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0070936, GO:0051865, GO:0045893, GO:0045087, GO:0043161, GO:0016567, GO:0010468, GO:0008284, protein K48-linked ubiquitination, protein autoubiquitination, positive regulation of transcription, DNA-templated, innate immune response, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, regulation of gene expression, positive regulation of cell population proliferation, 105 143 86 106 124 134 96 108 108 ENSG00000168172 chr8 42896932 43030539 + HOOK3 protein_coding Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]. 84376 GO:0070695, GO:0034451, GO:0030897, GO:0005874, GO:0005829, GO:0005813, GO:0005813, GO:0005801, GO:0005737, GO:0000242, FHF complex, centriolar satellite, HOPS complex, microtubule, cytosol, centrosome, centrosome, cis-Golgi network, cytoplasm, pericentriolar material, GO:0051959, GO:0045505, GO:0045503, GO:0042802, GO:0034452, GO:0008017, GO:0008017, GO:0005515, dynein light intermediate chain binding, dynein intermediate chain binding, dynein light chain binding, identical protein binding, dynactin binding, microtubule binding, microtubule binding, protein binding, GO:0097150, GO:0071539, GO:0051645, GO:0050768, GO:0045022, GO:0034454, GO:0031122, GO:0031122, GO:0030705, GO:0022027, GO:0015031, GO:0008333, GO:0007040, GO:0007032, neuronal stem cell population maintenance, protein localization to centrosome, Golgi localization, negative regulation of neurogenesis, early endosome to late endosome transport, microtubule anchoring at centrosome, cytoplasmic microtubule organization, cytoplasmic microtubule organization, cytoskeleton-dependent intracellular transport, interkinetic nuclear migration, protein transport, endosome to lysosome transport, lysosome organization, endosome organization, 638 663 862 360 513 485 464 347 455 ENSG00000168175 chr14 55051631 55070192 + MAPK1IP1L protein_coding 93487 GO:0005515, protein binding, 839 786 1059 651 520 639 675 460 483 ENSG00000168209 chr10 72273920 72276036 + DDIT4 protein_coding 54541 GO:0005829, GO:0005829, GO:0005739, GO:0005737, cytosol, cytosol, mitochondrion, cytoplasm, GO:0071889, GO:0005515, 14-3-3 protein binding, protein binding, GO:1902532, GO:1901216, GO:0072593, GO:0071549, GO:0051607, GO:0048011, GO:0045820, GO:0042771, GO:0033137, GO:0032984, GO:0032007, GO:0032007, GO:0032006, GO:0030182, GO:0010801, GO:0007420, GO:0006915, GO:0001764, GO:0001666, GO:0001666, negative regulation of intracellular signal transduction, positive regulation of neuron death, reactive oxygen species metabolic process, cellular response to dexamethasone stimulus, defense response to virus, neurotrophin TRK receptor signaling pathway, negative regulation of glycolytic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, negative regulation of peptidyl-serine phosphorylation, protein-containing complex disassembly, negative regulation of TOR signaling, negative regulation of TOR signaling, regulation of TOR signaling, neuron differentiation, negative regulation of peptidyl-threonine phosphorylation, brain development, apoptotic process, neuron migration, response to hypoxia, response to hypoxia, 300 378 935 689 910 1068 931 833 1082 ENSG00000168214 chr4 26163455 26435131 + RBPJ protein_coding The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]. 3516 GO:0017053, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0002193, GO:0002193, GO:0000785, GO:0000785, transcription repressor complex, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, MAML1-RBP-Jkappa- ICN1 complex, MAML1-RBP-Jkappa- ICN1 complex, chromatin, chromatin, GO:0070491, GO:0047485, GO:0043565, GO:0008134, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001103, GO:0000981, GO:0000981, GO:0000978, GO:0000978, repressing transcription factor binding, protein N-terminus binding, sequence-specific DNA binding, transcription factor binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II repressing transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000138, GO:1901297, GO:1901189, GO:1901186, GO:0120163, GO:0097101, GO:0072554, GO:0061419, GO:0061314, GO:0060844, GO:0060716, GO:0060486, GO:0060412, GO:0060045, GO:0048820, GO:0048733, GO:0048505, GO:0045944, GO:0045892, GO:0045747, GO:0045596, GO:0043011, GO:0042742, GO:0036302, GO:0035912, GO:0035019, GO:0032633, GO:0030513, GO:0030279, GO:0030216, GO:0030183, GO:0021983, GO:0010628, GO:0009957, GO:0009912, GO:0008285, GO:0007221, GO:0007221, GO:0007219, GO:0007219, GO:0007219, GO:0006959, GO:0006367, GO:0003256, GO:0003222, GO:0003214, GO:0003198, GO:0003177, GO:0003176, GO:0003160, GO:0003151, GO:0003139, GO:0002437, GO:0001974, GO:0001837, GO:0001756, GO:0001525, GO:0000122, GO:0000122, positive regulation of cell proliferation involved in heart morphogenesis, positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment, positive regulation of ephrin receptor signaling pathway, positive regulation of ERBB signaling pathway, negative regulation of cold-induced thermogenesis, blood vessel endothelial cell fate specification, blood vessel lumenization, positive regulation of transcription from RNA polymerase II promoter in response to hypoxia, Notch signaling involved in heart development, arterial endothelial cell fate commitment, labyrinthine layer blood vessel development, club cell differentiation, ventricular septum morphogenesis, positive regulation of cardiac muscle cell proliferation, hair follicle maturation, sebaceous gland development, regulation of timing of cell differentiation, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, negative regulation of cell differentiation, myeloid dendritic cell differentiation, defense response to bacterium, atrioventricular canal development, dorsal aorta morphogenesis, somatic stem cell population maintenance, interleukin-4 production, positive regulation of BMP signaling pathway, negative regulation of ossification, keratinocyte differentiation, B cell differentiation, pituitary gland development, positive regulation of gene expression, epidermal cell fate specification, auditory receptor cell fate commitment, negative regulation of cell population proliferation, positive regulation of transcription of Notch receptor target, positive regulation of transcription of Notch receptor target, Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, humoral immune response, transcription initiation from RNA polymerase II promoter, regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation, ventricular trabecula myocardium morphogenesis, cardiac left ventricle morphogenesis, epithelial to mesenchymal transition involved in endocardial cushion formation, pulmonary valve development, aortic valve development, endocardium morphogenesis, outflow tract morphogenesis, secondary heart field specification, inflammatory response to antigenic stimulus, blood vessel remodeling, epithelial to mesenchymal transition, somitogenesis, angiogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3830 3499 4090 1682 2576 2309 2077 2124 2025 ENSG00000168216 chr6 69675793 69867236 - LMBRD1 protein_coding This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]. 55788 GO:0045334, GO:0016021, GO:0016020, GO:0005886, GO:0005765, clathrin-coated endocytic vesicle, integral component of membrane, membrane, plasma membrane, lysosomal membrane, GO:0031419, GO:0015420, GO:0005515, GO:0005158, cobalamin binding, ATPase-coupled vitamin B12 transmembrane transporter activity, protein binding, insulin receptor binding, GO:0016032, GO:0015889, GO:0009235, viral process, cobalamin transport, cobalamin metabolic process, 1729 1488 2019 647 1538 1190 866 1221 1017 ENSG00000168228 chr4 25312785 25370383 + ZCCHC4 protein_coding 29063 GO:0005737, GO:0005737, GO:0005730, GO:0005730, cytoplasm, cytoplasm, nucleolus, nucleolus, GO:1904047, GO:0008988, GO:0008988, GO:0008270, GO:0003676, S-adenosyl-L-methionine binding, rRNA (adenine-N6-)-methyltransferase activity, rRNA (adenine-N6-)-methyltransferase activity, zinc ion binding, nucleic acid binding, GO:0045727, GO:0031167, GO:0031167, positive regulation of translation, rRNA methylation, rRNA methylation, 14 16 12 30 23 37 19 14 13 ENSG00000168229 chr14 52267713 52276724 + PTGDR protein_coding This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 5729 GO:0016021, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004956, GO:0004956, GO:0001785, protein binding, prostaglandin D receptor activity, prostaglandin D receptor activity, prostaglandin J receptor activity, GO:0071799, GO:0046085, GO:0043303, GO:0030431, GO:0030238, GO:0007204, GO:0007186, GO:0007186, GO:0006954, cellular response to prostaglandin D stimulus, adenosine metabolic process, mast cell degranulation, sleep, male sex determination, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, 12 0 2 27 10 50 27 15 41 ENSG00000168234 chr18 23992773 24135610 + TTC39C protein_coding 125488 GO:0060271, GO:0032474, cilium assembly, otolith morphogenesis, 63 27 81 195 67 231 139 67 141 ENSG00000168237 chr3 52287089 52293476 + GLYCTK protein_coding This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. 132158 GO:0005829, GO:0005829, GO:0005794, GO:0005739, GO:0005737, GO:0005737, cytosol, cytosol, Golgi apparatus, mitochondrion, cytoplasm, cytoplasm, GO:0008887, GO:0008887, GO:0008887, GO:0005524, GO:0005515, glycerate kinase activity, glycerate kinase activity, glycerate kinase activity, ATP binding, protein binding, GO:0061624, GO:0006468, GO:0006468, fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate, protein phosphorylation, protein phosphorylation, 64 84 124 93 93 82 81 63 109 ENSG00000168243 chr1 235547687 235650754 - GNG4 protein_coding 2786 GO:0070062, GO:0031680, GO:0005886, GO:0005834, extracellular exosome, G-protein beta/gamma-subunit complex, plasma membrane, heterotrimeric G-protein complex, GO:0031681, GO:0005515, G-protein beta-subunit binding, protein binding, GO:0030308, GO:0008277, GO:0007186, negative regulation of cell growth, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 1 0 0 0 2 0 0 ENSG00000168246 chr5 172209640 172284071 - UBTD2 protein_coding 92181 GO:0005737, cytoplasm, GO:0005515, protein binding, 30 23 43 18 15 21 17 11 21 ENSG00000168255 chr7 102537918 102572653 - POLR2J3 protein_coding 26 40 41 25 49 35 46 54 25 ENSG00000168256 chr17 42011382 42025644 + NKIRAS2 protein_coding 28511 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0007249, I-kappaB kinase/NF-kappaB signaling, 160 208 187 116 205 125 168 171 112 ENSG00000168259 chr17 41976433 42021376 - DNAJC7 protein_coding This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. 7266 GO:0070062, GO:0016020, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, extracellular exosome, membrane, cytoskeleton, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0031072, GO:0005515, heat shock protein binding, protein binding, GO:1900034, GO:0051085, GO:0006457, regulation of cellular response to heat, chaperone cofactor-dependent protein refolding, protein folding, 364 364 488 304 386 312 318 324 280 ENSG00000168263 chr9 2717502 2730037 + KCNV2 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]. 169522 GO:0016021, GO:0008076, GO:0005886, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, GO:0005515, GO:0005249, protein binding, voltage-gated potassium channel activity, GO:0071805, GO:0051260, GO:0034765, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000168264 chr1 234604269 234609525 - IRF2BP2 protein_coding This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 359948 GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0003714, GO:0003714, metal ion binding, transcription corepressor activity, transcription corepressor activity, GO:0006357, GO:0002327, GO:0000122, regulation of transcription by RNA polymerase II, immature B cell differentiation, negative regulation of transcription by RNA polymerase II, 1295 1310 4378 1754 871 1409 2388 1338 1561 ENSG00000168267 chr10 23192327 23194252 + PTF1A protein_coding This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]. 256297 GO:0005737, GO:0005667, GO:0005634, GO:0000785, GO:0000785, cytoplasm, transcription regulator complex, nucleus, chromatin, chromatin, GO:1990837, GO:0070888, GO:0046983, GO:0003682, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, protein dimerization activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0061074, GO:0048663, GO:0048384, GO:0045944, GO:0035881, GO:0032502, GO:0031017, GO:0031016, GO:0021549, GO:0010842, GO:0009888, GO:0006357, GO:0006355, regulation of neural retina development, neuron fate commitment, retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, amacrine cell differentiation, developmental process, exocrine pancreas development, pancreas development, cerebellum development, retina layer formation, tissue development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000168268 chr3 52524385 52535054 - NT5DC2 protein_coding 64943 GO:0046872, GO:0008253, metal ion binding, 5'-nucleotidase activity, GO:0016311, dephosphorylation, 4 4 5 7 6 2 1 4 1 ENSG00000168269 chr5 170105897 170109725 + FOXI1 protein_coding This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]. 2299 GO:0043231, GO:0005730, GO:0005634, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, nucleolus, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0008301, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, DNA binding, bending, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0042472, GO:0030154, GO:0009792, GO:0009653, GO:0006357, positive regulation of transcription by RNA polymerase II, inner ear morphogenesis, cell differentiation, embryo development ending in birth or egg hatching, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 7 0 6 23 10 46 27 3 30 ENSG00000168273 chr3 52534013 52579237 + SMIM4 protein_coding 440957 GO:0016021, integral component of membrane, 18 10 20 32 25 32 26 26 10 ENSG00000168275 chr1 234373456 234384049 + COA6 protein_coding This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 388753 GO:0005886, GO:0005758, GO:0005739, GO:0005739, GO:0005654, plasma membrane, mitochondrial intermembrane space, mitochondrion, mitochondrion, nucleoplasm, GO:0005515, GO:0005507, GO:0003723, protein binding, copper ion binding, RNA binding, GO:0042774, GO:0008535, GO:0008535, plasma membrane ATP synthesis coupled electron transport, respiratory chain complex IV assembly, respiratory chain complex IV assembly, 11 5 21 21 13 30 12 16 31 ENSG00000168280 chr2 148875250 149026759 + KIF5C protein_coding The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]. 3800 GO:1904115, GO:0150034, GO:0044295, GO:0043025, GO:0035253, GO:0032839, GO:0005874, GO:0005871, axon cytoplasm, distal axon, axonal growth cone, neuronal cell body, ciliary rootlet, dendrite cytoplasm, microtubule, kinesin complex, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0005515, GO:0003777, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0099641, GO:0098971, GO:0051028, GO:0048489, GO:0030705, GO:0008045, GO:0007411, GO:0007018, GO:0006996, anterograde axonal protein transport, anterograde dendritic transport of neurotransmitter receptor complex, mRNA transport, synaptic vesicle transport, cytoskeleton-dependent intracellular transport, motor neuron axon guidance, axon guidance, microtubule-based movement, organelle organization, 11 6 12 15 2 20 15 2 17 ENSG00000168282 chr14 49620795 49623481 + MGAT2 protein_coding The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 4247 GO:0016021, GO:0016020, GO:0005795, GO:0005794, GO:0000139, GO:0000139, GO:0000139, integral component of membrane, membrane, Golgi stack, Golgi apparatus, Golgi membrane, Golgi membrane, Golgi membrane, GO:0042803, GO:0030246, GO:0030145, GO:0008455, GO:0008455, GO:0008455, GO:0008455, protein homodimerization activity, carbohydrate binding, manganese ion binding, alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity, alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity, alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity, alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity, GO:0018279, GO:0018279, GO:0009312, GO:0006487, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, oligosaccharide biosynthetic process, protein N-linked glycosylation, 145 110 229 97 102 116 106 53 84 ENSG00000168283 chr10 22321211 22331484 + BMI1 protein_coding This gene encodes a ring finger protein that is major component of the polycomb group complex 1 (PRC1). This complex functions through chromatin remodeling as an essential epigenetic repressor of multiple regulatory genes involved in embryonic development and self-renewal in somatic stem cells. This protein also plays a central role in DNA damage repair. This gene is an oncogene and aberrant expression is associated with numerous cancers and is associated with resistance to certain chemotherapies. A pseudogene of this gene is found on chromosome X. Read-through transcription also exists between this gene and the upstream COMM domain containing 3 (COMMD3) gene. [provided by RefSeq, Sep 2015]. 648 GO:0035102, GO:0035102, GO:0031519, GO:0016604, GO:0005829, GO:0005654, GO:0005634, GO:0000151, PRC1 complex, PRC1 complex, PcG protein complex, nuclear body, cytosol, nucleoplasm, nucleus, ubiquitin ligase complex, GO:1990841, GO:1990841, GO:0071535, GO:0008270, GO:0005515, promoter-specific chromatin binding, promoter-specific chromatin binding, RING-like zinc finger domain binding, zinc ion binding, protein binding, GO:0070317, GO:0051443, GO:0048146, GO:0045814, GO:0036353, GO:0036353, GO:0030097, GO:0010468, GO:0007379, GO:0006342, GO:0000122, GO:0000122, negative regulation of G0 to G1 transition, positive regulation of ubiquitin-protein transferase activity, positive regulation of fibroblast proliferation, negative regulation of gene expression, epigenetic, histone H2A-K119 monoubiquitination, histone H2A-K119 monoubiquitination, hemopoiesis, regulation of gene expression, segment specification, chromatin silencing, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 31 24 63 78 45 93 61 28 69 ENSG00000168286 chr16 67842082 67844195 + THAP11 protein_coding The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]. 57215 GO:0045171, GO:0005829, GO:0005654, GO:0005654, GO:0000785, intercellular bridge, cytosol, nucleoplasm, nucleoplasm, chromatin, GO:0008270, GO:0005515, GO:0003677, GO:0001227, GO:0000981, GO:0000978, GO:0000978, zinc ion binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 72 47 72 54 63 77 30 54 56 ENSG00000168288 chr2 149569634 149587816 - MMADHC protein_coding This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]. 27249 GO:0005829, GO:0005739, GO:0005739, GO:0005737, cytosol, mitochondrion, mitochondrion, cytoplasm, GO:0005515, protein binding, GO:0009235, GO:0009235, cobalamin metabolic process, cobalamin metabolic process, 751 584 1016 376 424 478 358 356 372 ENSG00000168291 chr3 58427630 58433857 - PDHB protein_coding The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]. 5162 GO:0045254, GO:0005967, GO:0005759, GO:0005739, GO:0005654, GO:0005634, pyruvate dehydrogenase complex, mitochondrial pyruvate dehydrogenase complex, mitochondrial matrix, mitochondrion, nucleoplasm, nucleus, GO:0034604, GO:0005515, GO:0004739, GO:0004739, pyruvate dehydrogenase (NAD+) activity, protein binding, pyruvate dehydrogenase (acetyl-transferring) activity, pyruvate dehydrogenase (acetyl-transferring) activity, GO:0061732, GO:0006099, GO:0006090, GO:0006086, GO:0006086, GO:0006006, mitochondrial acetyl-CoA biosynthetic process from pyruvate, tricarboxylic acid cycle, pyruvate metabolic process, acetyl-CoA biosynthetic process from pyruvate, acetyl-CoA biosynthetic process from pyruvate, glucose metabolic process, 93 91 130 76 99 102 75 85 50 ENSG00000168297 chr3 58332880 58426126 + PXK protein_coding This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 54899 GO:0034451, GO:0032991, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, centriolar satellite, protein-containing complex, plasma membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0035091, GO:0005524, GO:0004672, GO:0003779, GO:0000166, phosphatidylinositol binding, ATP binding, protein kinase activity, actin binding, nucleotide binding, GO:0050804, GO:0043271, GO:0042391, GO:0032780, GO:0006954, GO:0006468, modulation of chemical synaptic transmission, negative regulation of ion transport, regulation of membrane potential, negative regulation of ATPase activity, inflammatory response, protein phosphorylation, 536 540 879 391 664 571 444 495 536 ENSG00000168298 chr6 26156354 26157107 + HIST1H1E protein_coding Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 3008 GO:0005634, GO:0005634, GO:0000792, GO:0000791, GO:0000786, nucleus, nucleus, heterochromatin, euchromatin, nucleosome, GO:0043531, GO:0032564, GO:0031492, GO:0031490, GO:0016208, GO:0005525, GO:0005524, GO:0005515, GO:0005509, GO:0003723, GO:0003690, ADP binding, dATP binding, nucleosomal DNA binding, chromatin DNA binding, AMP binding, GTP binding, ATP binding, protein binding, calcium ion binding, RNA binding, double-stranded DNA binding, GO:0098532, GO:0080182, GO:0045910, GO:0031936, GO:0030261, GO:0016584, GO:0006334, GO:0000122, histone H3-K27 trimethylation, histone H3-K4 trimethylation, negative regulation of DNA recombination, negative regulation of chromatin silencing, chromosome condensation, nucleosome positioning, nucleosome assembly, negative regulation of transcription by RNA polymerase II, 7 10 5 18 22 36 13 25 58 ENSG00000168300 chr8 51817575 51899186 - PCMTD1 protein_coding 115294 GO:0016020, GO:0005737, membrane, cytoplasm, GO:0005515, GO:0004719, protein binding, protein-L-isoaspartate (D-aspartate) O-methyltransferase activity, GO:0006479, protein methylation, 1024 1213 1460 671 1277 1415 915 1045 1087 ENSG00000168301 chr3 58492114 58502360 + KCTD6 protein_coding 200845 GO:0031430, GO:0005829, M band, cytosol, GO:0097602, GO:0097602, GO:0042802, GO:0030506, GO:0005515, cullin family protein binding, cullin family protein binding, identical protein binding, ankyrin binding, protein binding, GO:0051260, GO:0045879, GO:0043687, GO:0040008, GO:0033146, GO:0016567, GO:0006511, GO:0006511, protein homooligomerization, negative regulation of smoothened signaling pathway, post-translational protein modification, regulation of growth, regulation of intracellular estrogen receptor signaling pathway, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 6 6 9 5 8 13 9 7 7 ENSG00000168303 chr7 40126023 40134652 - MPLKIP protein_coding The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]. 136647 GO:0043231, GO:0030496, GO:0005813, GO:0005794, GO:0005737, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, midbody, centrosome, Golgi apparatus, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0051301, GO:0007049, cell division, cell cycle, 63 46 62 49 49 22 63 46 59 ENSG00000168306 chr3 58505136 58537319 - ACOX2 protein_coding The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]. 8309 GO:0043231, GO:0005829, GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005777, GO:0005777, intracellular membrane-bounded organelle, cytosol, cytosol, peroxisomal matrix, peroxisome, peroxisome, peroxisome, peroxisome, GO:0071949, GO:0050660, GO:0050660, GO:0042803, GO:0033791, GO:0033791, GO:0033791, GO:0016401, GO:0005515, GO:0005504, GO:0003997, FAD binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, protein homodimerization activity, 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity, 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity, 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity, palmitoyl-CoA oxidase activity, protein binding, fatty acid binding, acyl-CoA oxidase activity, GO:1902884, GO:0055088, GO:0033540, GO:0033540, GO:0033540, GO:0033540, GO:0010942, GO:0006699, GO:0006625, GO:0000038, positive regulation of response to oxidative stress, lipid homeostasis, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation using acyl-CoA oxidase, positive regulation of cell death, bile acid biosynthetic process, protein targeting to peroxisome, very long-chain fatty acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000168309 chr3 58564117 58627610 - FAM107A protein_coding 11170 GO:0045202, GO:0045202, GO:0043005, GO:0043005, GO:0032587, GO:0016607, GO:0015629, GO:0015629, GO:0005925, GO:0005737, GO:0005634, GO:0001725, GO:0001725, synapse, synapse, neuron projection, neuron projection, ruffle membrane, nuclear speck, actin cytoskeleton, actin cytoskeleton, focal adhesion, cytoplasm, nucleus, stress fiber, stress fiber, GO:0005515, GO:0003779, GO:0003674, protein binding, actin binding, molecular_function, GO:2000134, GO:1900272, GO:0071385, GO:0070507, GO:0051895, GO:0051017, GO:0051017, GO:0050890, GO:0032956, GO:0032956, GO:0031669, GO:0031647, GO:0031398, GO:0030335, GO:0030041, GO:0030041, GO:0007049, GO:0001558, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of long-term synaptic potentiation, cellular response to glucocorticoid stimulus, regulation of microtubule cytoskeleton organization, negative regulation of focal adhesion assembly, actin filament bundle assembly, actin filament bundle assembly, cognition, regulation of actin cytoskeleton organization, regulation of actin cytoskeleton organization, cellular response to nutrient levels, regulation of protein stability, positive regulation of protein ubiquitination, positive regulation of cell migration, actin filament polymerization, actin filament polymerization, cell cycle, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000168310 chr4 184387713 184474580 - IRF2 protein_coding IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008]. 3660 GO:0005925, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, focal adhesion, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060337, GO:0060333, GO:0051607, GO:0045944, GO:0008283, GO:0007596, GO:0006357, GO:0006355, GO:0002376, GO:0000122, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, positive regulation of transcription by RNA polymerase II, cell population proliferation, blood coagulation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, immune system process, negative regulation of transcription by RNA polymerase II, 1870 1937 2073 766 1572 1091 1035 1430 1101 ENSG00000168314 chr3 39467198 39529479 + MOBP protein_coding 4336 GO:0048471, GO:0030864, GO:0005739, perinuclear region of cytoplasm, cortical actin cytoskeleton, mitochondrion, GO:0031267, GO:0019911, GO:0017022, GO:0005515, GO:0003779, small GTPase binding, structural constituent of myelin sheath, myosin binding, protein binding, actin binding, GO:0007399, nervous system development, 0 0 0 0 0 0 0 0 0 ENSG00000168329 chr3 39263494 39281735 - CX3CR1 protein_coding Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 1524 GO:0097447, GO:0048471, GO:0043005, GO:0032809, GO:0009986, GO:0009986, GO:0009986, GO:0009897, GO:0005887, GO:0005886, dendritic tree, perinuclear region of cytoplasm, neuron projection, neuronal cell body membrane, cell surface, cell surface, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019960, GO:0019960, GO:0019957, GO:0016495, GO:0016493, GO:0008528, GO:0005515, GO:0004950, GO:0004930, C-X3-C chemokine binding, C-X3-C chemokine binding, C-C chemokine binding, C-X3-C chemokine receptor activity, C-C chemokine receptor activity, G protein-coupled peptide receptor activity, protein binding, chemokine receptor activity, G protein-coupled receptor activity, GO:2001234, GO:1904141, GO:1904139, GO:1903721, GO:1900272, GO:0150090, GO:0110091, GO:0098883, GO:0071560, GO:0071222, GO:0070098, GO:0060326, GO:0060074, GO:0051897, GO:0051092, GO:0050901, GO:0050804, GO:0050769, GO:0050767, GO:0048167, GO:0045766, GO:0045428, GO:0045087, GO:0035425, GO:0035176, GO:0032691, GO:0032680, GO:0030336, GO:0021626, GO:0019722, GO:0016525, GO:0016032, GO:0009611, GO:0007613, GO:0007267, GO:0007204, GO:0007200, GO:0007186, GO:0007155, GO:0006968, GO:0006955, GO:0006935, GO:0002931, GO:0002052, negative regulation of apoptotic signaling pathway, positive regulation of microglial cell migration, regulation of microglial cell migration, positive regulation of I-kappaB phosphorylation, negative regulation of long-term synaptic potentiation, multiple spine synapse organization, single dendrite, negative regulation of hippocampal neuron apoptotic process, synapse pruning, cellular response to transforming growth factor beta stimulus, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, cell chemotaxis, synapse maturation, positive regulation of protein kinase B signaling, positive regulation of NF-kappaB transcription factor activity, leukocyte tethering or rolling, modulation of chemical synaptic transmission, positive regulation of neurogenesis, regulation of neurogenesis, regulation of synaptic plasticity, positive regulation of angiogenesis, regulation of nitric oxide biosynthetic process, innate immune response, autocrine signaling, social behavior, negative regulation of interleukin-1 beta production, regulation of tumor necrosis factor production, negative regulation of cell migration, central nervous system maturation, calcium-mediated signaling, negative regulation of angiogenesis, viral process, response to wounding, memory, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell adhesion, cellular defense response, immune response, chemotaxis, response to ischemia, positive regulation of neuroblast proliferation, 46 52 112 74 132 275 82 108 178 ENSG00000168333 chr8 49054311 49076090 + PPDPFL protein_coding 492307 GO:0030154, GO:0007275, cell differentiation, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000168334 chr3 39183210 39192596 - XIRP1 protein_coding The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]. 165904 GO:0005925, GO:0001725, focal adhesion, stress fiber, GO:0051015, GO:0005515, GO:0003723, actin filament binding, protein binding, RNA binding, GO:0032091, GO:0007015, negative regulation of protein binding, actin filament organization, 0 1 0 1 4 1 0 0 1 ENSG00000168348 chr14 35534042 35537054 + INSM2 protein_coding 84684 GO:0017053, GO:0005737, GO:0005634, transcription repressor complex, cytoplasm, nucleus, GO:0046872, GO:0003677, GO:0001227, GO:0000978, metal ion binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030182, GO:0010564, GO:0000122, neuron differentiation, regulation of cell cycle process, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000168350 chr14 100143957 100160163 - DEGS2 protein_coding This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]. 123099 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0042284, GO:0000170, GO:0000170, sphingolipid delta-4 desaturase activity, sphingosine hydroxylase activity, sphingosine hydroxylase activity, GO:0055114, GO:0046513, GO:0030148, GO:0006667, oxidation-reduction process, ceramide biosynthetic process, sphingolipid biosynthetic process, sphinganine metabolic process, 18 13 32 74 37 74 43 25 60 ENSG00000168356 chr3 38845769 38950561 - SCN11A protein_coding Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]. 11280 GO:0070062, GO:0044299, GO:0030424, GO:0001518, extracellular exosome, C-fiber, axon, voltage-gated sodium channel complex, GO:0005248, GO:0005244, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0086010, GO:0051930, GO:0042493, GO:0035725, GO:0034765, GO:0019228, GO:0006814, membrane depolarization during action potential, regulation of sensory perception of pain, response to drug, sodium ion transmembrane transport, regulation of ion transmembrane transport, neuronal action potential, sodium ion transport, 0 1 0 3 0 0 0 0 0 ENSG00000168367 chr16 86331844 86349683 - LINC00917 lincRNA 732275 0 0 0 0 0 0 0 0 0 ENSG00000168374 chr3 57571363 57598220 - ARF4 protein_coding This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008]. 378 GO:0098978, GO:0070062, GO:0043197, GO:0032587, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005737, glutamatergic synapse, extracellular exosome, dendritic spine, ruffle membrane, membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, cytoplasm, GO:0005525, GO:0005525, GO:0005515, GO:0005154, GO:0005085, GO:0003924, GTP binding, GTP binding, protein binding, epidermal growth factor receptor binding, guanyl-nucleotide exchange factor activity, GTPase activity, GO:2000377, GO:0099175, GO:0061512, GO:0060996, GO:0048678, GO:0045944, GO:0045197, GO:0045176, GO:0043066, GO:0031584, GO:0016477, GO:0016192, GO:0007612, GO:0007420, GO:0007173, GO:0006890, GO:0006890, GO:0006888, GO:0006886, GO:0006471, regulation of reactive oxygen species metabolic process, regulation of postsynapse organization, protein localization to cilium, dendritic spine development, response to axon injury, positive regulation of transcription by RNA polymerase II, establishment or maintenance of epithelial cell apical/basal polarity, apical protein localization, negative regulation of apoptotic process, activation of phospholipase D activity, cell migration, vesicle-mediated transport, learning, brain development, epidermal growth factor receptor signaling pathway, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, protein ADP-ribosylation, 3370 2813 3477 3514 3408 3500 3570 2485 2612 ENSG00000168385 chr2 241315100 241354027 + SEPT2 protein_coding 4735 GO:0097730, GO:0097227, GO:0070062, GO:0060170, GO:0048471, GO:0045171, GO:0032391, GO:0032154, GO:0032153, GO:0031105, GO:0031105, GO:0030496, GO:0015630, GO:0015629, GO:0008021, GO:0005940, GO:0005938, GO:0005930, GO:0005886, GO:0005819, GO:0005737, GO:0005654, GO:0005634, GO:0000777, GO:0000145, non-motile cilium, sperm annulus, extracellular exosome, ciliary membrane, perinuclear region of cytoplasm, intercellular bridge, photoreceptor connecting cilium, cleavage furrow, cell division site, septin complex, septin complex, midbody, microtubule cytoskeleton, actin cytoskeleton, synaptic vesicle, septin ring, cell cortex, axoneme, plasma membrane, spindle, cytoplasm, nucleoplasm, nucleus, condensed chromosome kinetochore, exocyst, GO:0060090, GO:0045296, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, cadherin binding, GTP binding, protein binding, GTPase activity, GO:0061640, GO:0060271, GO:0060271, GO:0034613, GO:0031175, GO:0017157, GO:0007283, GO:0007224, cytoskeleton-dependent cytokinesis, cilium assembly, cilium assembly, cellular protein localization, neuron projection development, regulation of exocytosis, spermatogenesis, smoothened signaling pathway, 1566 1718 1730 1052 1538 1277 1079 1112 887 ENSG00000168386 chr3 99830141 100114513 - FILIP1L protein_coding 11259 GO:0016020, GO:0005737, GO:0005634, membrane, cytoplasm, nucleus, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 1 4 1 0 2 0 0 ENSG00000168389 chr1 39955112 39969968 + MFSD2A protein_coding The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]. 84879 GO:0016021, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005789, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:1901480, GO:0140348, GO:0051978, GO:0051978, GO:0015293, GO:0015245, GO:0005548, GO:0005324, GO:0005324, GO:0005215, oleate transmembrane transporter activity, lysophosphatidylcholine flippase activity, lysophospholipid:sodium symporter activity, lysophospholipid:sodium symporter activity, symporter activity, fatty acid transmembrane transporter activity, phospholipid transporter activity, long-chain fatty acid transporter activity, long-chain fatty acid transporter activity, transporter activity, GO:1990963, GO:1990403, GO:1990379, GO:1990379, GO:0150178, GO:0150175, GO:0150172, GO:0150172, GO:0150104, GO:0150011, GO:0140329, GO:0097009, GO:0071702, GO:0061744, GO:0060856, GO:0060856, GO:0060042, GO:0055085, GO:0051977, GO:0051977, GO:0050890, GO:0050773, GO:0045056, GO:0040014, GO:0035845, GO:0035633, GO:0034379, GO:0031999, GO:0030307, GO:0021766, GO:0015909, GO:0015908, GO:0015908, GO:0010867, GO:0009267, GO:0008643, GO:0008594, GO:0007420, GO:0007420, GO:0006656, GO:0003406, establishment of blood-retinal barrier, embryonic brain development, lipid transport across blood-brain barrier, lipid transport across blood-brain barrier, regulation of phosphatidylserine metabolic process, regulation of phosphatidylethanolamine metabolic process, regulation of phosphatidylcholine metabolic process, regulation of phosphatidylcholine metabolic process, transport across blood-brain barrier, regulation of neuron projection arborization, lysophospholipid translocation, energy homeostasis, organic substance transport, motor behavior, establishment of blood-brain barrier, establishment of blood-brain barrier, retina morphogenesis in camera-type eye, transmembrane transport, lysophospholipid transport, lysophospholipid transport, cognition, regulation of dendrite development, transcytosis, regulation of multicellular organism growth, photoreceptor cell outer segment organization, maintenance of blood-brain barrier, very-low-density lipoprotein particle assembly, negative regulation of fatty acid beta-oxidation, positive regulation of cell growth, hippocampus development, long-chain fatty acid transport, fatty acid transport, fatty acid transport, positive regulation of triglyceride biosynthetic process, cellular response to starvation, carbohydrate transport, photoreceptor cell morphogenesis, brain development, brain development, phosphatidylcholine biosynthetic process, retinal pigment epithelium development, 27 26 94 23 26 35 24 18 10 ENSG00000168393 chr2 241675742 241686991 - DTYMK protein_coding 1841 GO:0005829, GO:0005829, GO:0005759, GO:0005758, GO:0005739, GO:0005737, GO:0005634, cytosol, cytosol, mitochondrial matrix, mitochondrial intermembrane space, mitochondrion, cytoplasm, nucleus, GO:0009041, GO:0005524, GO:0004798, GO:0004798, GO:0004550, uridylate kinase activity, ATP binding, thymidylate kinase activity, thymidylate kinase activity, nucleoside diphosphate kinase activity, GO:0071363, GO:0046940, GO:0046686, GO:0046105, GO:0045445, GO:0043627, GO:0015949, GO:0006235, GO:0006235, GO:0006233, GO:0006227, GO:0006165, cellular response to growth factor stimulus, nucleoside monophosphate phosphorylation, response to cadmium ion, thymidine biosynthetic process, myoblast differentiation, response to estrogen, nucleobase-containing small molecule interconversion, dTTP biosynthetic process, dTTP biosynthetic process, dTDP biosynthetic process, dUDP biosynthetic process, nucleoside diphosphate phosphorylation, 5 13 10 18 14 30 20 17 18 ENSG00000168394 chr6 32845209 32853978 - TAP1 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. 6890 GO:0042825, GO:0042824, GO:0042824, GO:0034451, GO:0033116, GO:0030670, GO:0030176, GO:0016021, GO:0016021, GO:0016020, GO:0005789, GO:0005783, TAP complex, MHC class I peptide loading complex, MHC class I peptide loading complex, centriolar satellite, endoplasmic reticulum-Golgi intermediate compartment membrane, phagocytic vesicle membrane, integral component of endoplasmic reticulum membrane, integral component of membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:1904680, GO:1904680, GO:0046979, GO:0046978, GO:0046978, GO:0043531, GO:0042803, GO:0042626, GO:0042605, GO:0042288, GO:0023029, GO:0016887, GO:0015440, GO:0015433, GO:0005524, GO:0005524, GO:0005515, peptide transmembrane transporter activity, peptide transmembrane transporter activity, TAP2 binding, TAP1 binding, TAP1 binding, ADP binding, protein homodimerization activity, ATPase-coupled transmembrane transporter activity, peptide antigen binding, MHC class I protein binding, MHC class Ib protein binding, ATPase activity, ATPase-coupled peptide transmembrane transporter activity, ATPase-coupled peptide antigen transmembrane transporter activity, ATP binding, ATP binding, protein binding, GO:1990668, GO:0055085, GO:0046967, GO:0019885, GO:0019885, GO:0016032, GO:0015833, GO:0015833, GO:0015031, GO:0006952, GO:0002479, GO:0002474, GO:0002250, vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane, transmembrane transport, cytosol to endoplasmic reticulum transport, antigen processing and presentation of endogenous peptide antigen via MHC class I, antigen processing and presentation of endogenous peptide antigen via MHC class I, viral process, peptide transport, peptide transport, protein transport, defense response, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000168395 chr2 241687085 241729478 + ING5 protein_coding This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016]. 84289 GO:0070776, GO:0005694, GO:0005654, GO:0005634, GO:0005634, GO:0000123, MOZ/MORF histone acetyltransferase complex, chromosome, nucleoplasm, nucleus, nucleus, histone acetyltransferase complex, GO:0046872, GO:0035064, GO:0035064, GO:0005515, GO:0003682, metal ion binding, methylated histone binding, methylated histone binding, protein binding, chromatin binding, GO:2001235, GO:1901796, GO:0045926, GO:0045893, GO:0045893, GO:0044154, GO:0043967, GO:0043966, GO:0043065, GO:0008285, GO:0008285, GO:0008285, GO:0006473, GO:0006260, positive regulation of apoptotic signaling pathway, regulation of signal transduction by p53 class mediator, negative regulation of growth, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, histone H3-K14 acetylation, histone H4 acetylation, histone H3 acetylation, positive regulation of apoptotic process, negative regulation of cell population proliferation, negative regulation of cell population proliferation, negative regulation of cell population proliferation, protein acetylation, DNA replication, 167 199 177 196 193 206 182 178 137 ENSG00000168397 chr2 241637213 241673857 + ATG4B protein_coding Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 23192 GO:0005829, cytosol, GO:0008234, GO:0005515, GO:0004197, GO:0004175, cysteine-type peptidase activity, protein binding, cysteine-type endopeptidase activity, endopeptidase activity, GO:0051697, GO:0016236, GO:0015031, GO:0006914, GO:0006508, protein delipidation, macroautophagy, protein transport, autophagy, proteolysis, 589 659 645 528 682 718 485 522 480 ENSG00000168398 chr14 96204679 96244166 + BDKRB2 protein_coding This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. Bradykinin is released upon activation by pathophysiologic conditions such as trauma and inflammation, and binds to its kinin receptors, B1 and B2. The B2 receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. [provided by RefSeq, Apr 2020]. 624 GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005768, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endosome, GO:0046982, GO:0031702, GO:0005515, GO:0004947, GO:0004947, GO:0004930, GO:0004435, GO:0002020, protein heterodimerization activity, type 1 angiotensin receptor binding, protein binding, bradykinin receptor activity, bradykinin receptor activity, G protein-coupled receptor activity, phosphatidylinositol phospholipase C activity, protease binding, GO:1902239, GO:0050482, GO:0043114, GO:0042311, GO:0042310, GO:0033137, GO:0019229, GO:0009651, GO:0008015, GO:0007204, GO:0007186, GO:0007186, GO:0007169, GO:0007166, GO:0006954, GO:0006939, negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator, arachidonic acid secretion, regulation of vascular permeability, vasodilation, vasoconstriction, negative regulation of peptidyl-serine phosphorylation, regulation of vasoconstriction, response to salt stress, blood circulation, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, inflammatory response, smooth muscle contraction, 1 0 0 0 0 0 0 0 0 ENSG00000168404 chr16 74671855 74700960 - MLKL protein_coding This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015]. 197259 GO:0005886, GO:0005829, GO:0005737, GO:0005634, plasma membrane, cytosol, cytoplasm, nucleus, GO:0044877, GO:0019901, GO:0005524, GO:0005515, GO:0004706, GO:0004672, GO:0004672, protein-containing complex binding, protein kinase binding, ATP binding, protein binding, JUN kinase kinase kinase activity, protein kinase activity, protein kinase activity, GO:0097528, GO:0097527, GO:0070266, GO:0070266, GO:0070207, GO:0051607, GO:0007257, GO:0007256, GO:0007166, execution phase of necroptosis, necroptotic signaling pathway, necroptotic process, necroptotic process, protein homotrimerization, defense response to virus, activation of JUN kinase activity, activation of JNKK activity, cell surface receptor signaling pathway, 1057 731 1537 1197 1061 1534 1288 858 1155 ENSG00000168405 chr6 25061626 25452263 - CMAHP transcribed_unitary_pseudogene 46 52 53 46 61 95 77 40 49 ENSG00000168411 chr16 74621394 74666881 - RFWD3 protein_coding 55159 GO:0090734, GO:0035861, GO:0016605, GO:0005737, GO:0005654, GO:0005634, GO:0005634, site of DNA damage, site of double-strand break, PML body, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0097371, GO:0061630, GO:0046872, GO:0005515, GO:0002039, MDM2/MDM4 family protein binding, ubiquitin protein ligase activity, metal ion binding, protein binding, p53 binding, GO:2000001, GO:0036297, GO:0031571, GO:0031297, GO:0031052, GO:0016567, GO:0016567, GO:0010212, GO:0006974, GO:0000724, GO:0000724, regulation of DNA damage checkpoint, interstrand cross-link repair, mitotic G1 DNA damage checkpoint, replication fork processing, chromosome breakage, protein ubiquitination, protein ubiquitination, response to ionizing radiation, cellular response to DNA damage stimulus, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 288 248 226 229 254 187 225 155 148 ENSG00000168412 chr4 186533655 186555567 - MTNR1A protein_coding This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008]. 4543 GO:0043235, GO:0005887, GO:0005886, GO:0005886, receptor complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0097159, GO:0042562, GO:0008502, GO:0005515, GO:0004930, organic cyclic compound binding, hormone binding, melatonin receptor activity, protein binding, G protein-coupled receptor activity, GO:0007623, GO:0007617, GO:0007193, GO:0007187, GO:0007186, GO:0007186, circadian rhythm, mating behavior, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000168418 chr16 84218667 84239750 - KCNG4 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]. 93107 GO:0016021, GO:0008076, GO:0008076, GO:0005886, GO:0005886, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0044325, GO:0005251, GO:0005251, GO:0005249, ion channel binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0051260, GO:0034765, potassium ion transmembrane transport, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000168421 chr4 40191053 40246967 + RHOH protein_coding The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]. 399 GO:0043231, GO:0042995, GO:0031410, GO:0005938, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0001772, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, cell cortex, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytoplasm, immunological synapse, GO:0031267, GO:0019901, GO:0019210, GO:0005525, GO:0005525, GO:0005515, GO:0005095, GO:0003924, small GTPase binding, protein kinase binding, kinase inhibitor activity, GTP binding, GTP binding, protein binding, GTPase inhibitor activity, GTPase activity, GO:1902622, GO:0051056, GO:0045582, GO:0045576, GO:0043652, GO:0043124, GO:0034260, GO:0033673, GO:0032956, GO:0030865, GO:0030217, GO:0030031, GO:0016601, GO:0008360, GO:0008045, GO:0007163, GO:0007015, GO:0006355, regulation of neutrophil migration, regulation of small GTPase mediated signal transduction, positive regulation of T cell differentiation, mast cell activation, engulfment of apoptotic cell, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of GTPase activity, negative regulation of kinase activity, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, T cell differentiation, cell projection assembly, Rac protein signal transduction, regulation of cell shape, motor neuron axon guidance, establishment or maintenance of cell polarity, actin filament organization, regulation of transcription, DNA-templated, 117 82 194 153 48 176 146 58 146 ENSG00000168427 chr2 238138722 238152947 + KLHL30 protein_coding 377007 0 0 0 1 0 0 0 0 0 ENSG00000168434 chr16 23388493 23453180 - COG7 protein_coding The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]. 91949 GO:0043231, GO:0032588, GO:0017119, GO:0017119, GO:0005794, GO:0005730, GO:0000139, intracellular membrane-bounded organelle, trans-Golgi network membrane, Golgi transport complex, Golgi transport complex, Golgi apparatus, nucleolus, Golgi membrane, GO:0005515, protein binding, GO:0050821, GO:0034067, GO:0033365, GO:0007030, GO:0006890, GO:0006890, GO:0006888, GO:0006886, GO:0006486, protein stabilization, protein localization to Golgi apparatus, protein localization to organelle, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, protein glycosylation, 39 55 49 74 76 74 48 41 45 ENSG00000168438 chr6 110180141 110254275 + CDC40 protein_coding Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]. 51362 GO:0071013, GO:0071013, GO:0071007, GO:0016607, GO:0005654, GO:0005654, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear speck, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0031124, GO:0006406, GO:0006405, GO:0000398, GO:0000398, GO:0000398, mRNA 3'-end processing, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 226 231 320 239 306 278 231 237 164 ENSG00000168439 chr11 64185272 64204543 + STIP1 protein_coding STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]. 10963 GO:0101031, GO:0032991, GO:0005829, GO:0005794, GO:0005634, chaperone complex, protein-containing complex, cytosol, Golgi apparatus, nucleus, GO:0051879, GO:0051879, GO:0051087, GO:0030544, GO:0008022, GO:0005515, GO:0003723, Hsp90 protein binding, Hsp90 protein binding, chaperone binding, Hsp70 protein binding, protein C-terminus binding, protein binding, RNA binding, GO:0098761, cellular response to interleukin-7, 534 521 1124 536 509 559 473 354 340 ENSG00000168447 chr16 23278231 23381299 + SCNN1B protein_coding Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]. 6338 GO:0098797, GO:0070062, GO:0034706, GO:0034706, GO:0030659, GO:0016324, GO:0009897, GO:0005887, GO:0005887, GO:0005886, plasma membrane protein complex, extracellular exosome, sodium channel complex, sodium channel complex, cytoplasmic vesicle membrane, apical plasma membrane, external side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0050699, GO:0015280, GO:0005515, WW domain binding, ligand-gated sodium channel activity, protein binding, GO:0055078, GO:0050909, GO:0050896, GO:0050891, GO:0035725, GO:0035725, GO:0034220, GO:0014824, GO:0007588, GO:0006814, sodium ion homeostasis, sensory perception of taste, response to stimulus, multicellular organismal water homeostasis, sodium ion transmembrane transport, sodium ion transmembrane transport, ion transmembrane transport, artery smooth muscle contraction, excretion, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000168453 chr8 22114415 22133384 - HR protein_coding This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. 55806 GO:0016604, GO:0005654, GO:0000785, GO:0000118, nuclear body, nucleoplasm, chromatin, histone deacetylase complex, GO:0046872, GO:0032454, GO:0031490, GO:0016491, GO:0005515, GO:0003714, GO:0003712, metal ion binding, histone demethylase activity (H3-K9 specific), chromatin DNA binding, oxidoreductase activity, protein binding, transcription corepressor activity, transcription coregulator activity, GO:0055114, GO:0045892, GO:0033169, GO:0006357, oxidation-reduction process, negative regulation of transcription, DNA-templated, histone H3-K9 demethylation, regulation of transcription by RNA polymerase II, 1 2 0 0 0 0 0 1 0 ENSG00000168454 chr18 9885726 9889275 + TXNDC2 protein_coding 84203 GO:0005737, cytoplasm, GO:0005515, GO:0004791, protein binding, thioredoxin-disulfide reductase activity, GO:0098869, GO:0045454, GO:0030154, GO:0007283, GO:0007275, cellular oxidant detoxification, cell redox homeostasis, cell differentiation, spermatogenesis, multicellular organism development, 6 4 4 1 7 3 3 7 6 ENSG00000168461 chr18 9708165 9862551 + RAB31 protein_coding Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]. 11031 GO:0045335, GO:0036186, GO:0032588, GO:0032588, GO:0031901, GO:0030667, GO:0012505, GO:0005886, GO:0005829, GO:0005769, GO:0001891, phagocytic vesicle, early phagosome membrane, trans-Golgi network membrane, trans-Golgi network membrane, early endosome membrane, secretory granule membrane, endomembrane system, plasma membrane, cytosol, early endosome, phagocytic cup, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GO:0090382, GO:0060100, GO:0045055, GO:0043312, GO:0043001, GO:0043001, GO:0032869, GO:0031623, GO:0006886, phagosome maturation, positive regulation of phagocytosis, engulfment, regulated exocytosis, neutrophil degranulation, Golgi to plasma membrane protein transport, Golgi to plasma membrane protein transport, cellular response to insulin stimulus, receptor internalization, intracellular protein transport, 3512 3237 4391 718 1662 1414 1098 1721 1327 ENSG00000168476 chr8 22138020 22141951 - REEP4 protein_coding 80346 GO:0071782, GO:0016021, GO:0016020, GO:0005881, GO:0005789, GO:0005783, endoplasmic reticulum tubular network, integral component of membrane, membrane, cytoplasmic microtubule, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0008017, GO:0008017, GO:0005515, microtubule binding, microtubule binding, protein binding, GO:0071786, GO:0051301, GO:0007084, GO:0006998, endoplasmic reticulum tubular network organization, cell division, mitotic nuclear envelope reassembly, nuclear envelope organization, 52 47 56 57 82 52 39 36 50 ENSG00000168477 chr6 32041153 32115334 - TNXB protein_coding This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7148 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular space, extracellular region, GO:0098633, GO:0008201, GO:0005515, GO:0005201, GO:0005201, GO:0005178, collagen fibril binding, heparin binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, integrin binding, GO:0048251, GO:0032963, GO:0030199, GO:0030036, GO:0007155, elastic fiber assembly, collagen metabolic process, collagen fibril organization, actin cytoskeleton organization, cell adhesion, 0 0 1 0 0 0 0 1 0 ENSG00000168481 chr8 22146825 22157084 - LGI3 protein_coding 203190 GO:0043005, GO:0008021, GO:0005576, neuron projection, synaptic vesicle, extracellular region, GO:0003824, catalytic activity, GO:0017157, GO:0006887, regulation of exocytosis, exocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000168484 chr8 22156913 22164479 + SFTPC protein_coding This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]. 6440 GO:0097486, GO:0097208, GO:0045334, GO:0042599, GO:0005789, GO:0005615, GO:0005576, multivesicular body lumen, alveolar lamellar body, clathrin-coated endocytic vesicle, lamellar body, endoplasmic reticulum membrane, extracellular space, extracellular region, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0044267, GO:0007585, cellular protein metabolic process, respiratory gaseous exchange by respiratory system, 0 0 0 0 0 0 0 0 0 ENSG00000168487 chr8 22164736 22212326 + BMP1 protein_coding This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]. 649 GO:0031982, GO:0005794, GO:0005615, GO:0005576, vesicle, Golgi apparatus, extracellular space, extracellular region, GO:0042802, GO:0008270, GO:0008237, GO:0008233, GO:0008083, GO:0005515, GO:0005509, GO:0005125, GO:0004222, identical protein binding, zinc ion binding, metallopeptidase activity, peptidase activity, growth factor activity, protein binding, calcium ion binding, cytokine activity, metalloendopeptidase activity, GO:0061036, GO:0034380, GO:0030154, GO:0022617, GO:0007275, GO:0007165, GO:0006508, GO:0001503, GO:0001502, GO:0001501, positive regulation of cartilage development, high-density lipoprotein particle assembly, cell differentiation, extracellular matrix disassembly, multicellular organism development, signal transduction, proteolysis, ossification, cartilage condensation, skeletal system development, 3 5 11 4 2 7 9 4 17 ENSG00000168488 chr16 28823035 28837237 + ATXN2L protein_coding This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 11273 GO:0016607, GO:0016020, GO:0016020, GO:0010494, GO:0010494, GO:0005829, nuclear speck, membrane, membrane, cytoplasmic stress granule, cytoplasmic stress granule, cytosol, GO:0045296, GO:0005515, GO:0003723, GO:0003723, cadherin binding, protein binding, RNA binding, RNA binding, GO:0034063, GO:0034063, GO:0010603, GO:0010603, stress granule assembly, stress granule assembly, regulation of cytoplasmic mRNA processing body assembly, regulation of cytoplasmic mRNA processing body assembly, 995 1141 1564 1007 1095 1342 1304 896 1158 ENSG00000168490 chr8 22219704 22232341 - PHYHIP protein_coding 9796 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:1990782, protein tyrosine kinase binding, GO:0008104, protein localization, 0 0 5 17 0 7 8 0 1 ENSG00000168491 chr4 185445182 185471759 - CCDC110 protein_coding 256309 GO:0005856, GO:0005634, cytoskeleton, nucleus, GO:0005515, protein binding, 1 0 1 0 0 0 0 2 0 ENSG00000168495 chr8 22245104 22254600 + POLR3D protein_coding This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]. 661 GO:0016607, GO:0005829, GO:0005829, GO:0005666, GO:0005666, GO:0005654, GO:0005654, GO:0000785, nuclear speck, cytosol, cytosol, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, nucleoplasm, chromatin, GO:0003899, GO:0003682, GO:0003677, DNA-directed 5'-3' RNA polymerase activity, chromatin binding, DNA binding, GO:0051607, GO:0045089, GO:0045087, GO:0032728, GO:0032481, GO:0006383, defense response to virus, positive regulation of innate immune response, innate immune response, positive regulation of interferon-beta production, positive regulation of type I interferon production, transcription by RNA polymerase III, 29 17 46 109 13 74 88 20 71 ENSG00000168496 chr11 61792637 61797244 + FEN1 protein_coding The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]. 2237 GO:0032991, GO:0016020, GO:0005739, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, GO:0000781, protein-containing complex, membrane, mitochondrion, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, chromosome, telomeric region, GO:0048256, GO:0030145, GO:0017108, GO:0017108, GO:0017108, GO:0017108, GO:0008409, GO:0008409, GO:0008309, GO:0005515, GO:0004527, GO:0004523, GO:0004523, GO:0004519, GO:0003690, GO:0003684, GO:0003677, GO:0000287, flap endonuclease activity, manganese ion binding, 5'-flap endonuclease activity, 5'-flap endonuclease activity, 5'-flap endonuclease activity, 5'-flap endonuclease activity, 5'-3' exonuclease activity, 5'-3' exonuclease activity, double-stranded DNA exodeoxyribonuclease activity, protein binding, exonuclease activity, RNA-DNA hybrid ribonuclease activity, RNA-DNA hybrid ribonuclease activity, endonuclease activity, double-stranded DNA binding, damaged DNA binding, DNA binding, magnesium ion binding, GO:0090502, GO:0090305, GO:0045876, GO:0043137, GO:0032201, GO:0009650, GO:0007613, GO:0006302, GO:0006284, GO:0006281, GO:0006260, GO:0000724, RNA phosphodiester bond hydrolysis, endonucleolytic, nucleic acid phosphodiester bond hydrolysis, positive regulation of sister chromatid cohesion, DNA replication, removal of RNA primer, telomere maintenance via semi-conservative replication, UV protection, memory, double-strand break repair, base-excision repair, DNA repair, DNA replication, double-strand break repair via homologous recombination, 23 25 30 36 31 42 26 42 27 ENSG00000168497 chr2 191834302 191847255 - CAVIN2 protein_coding This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009]. 8436 GO:0045121, GO:0005901, GO:0005901, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, membrane raft, caveola, caveola, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0005543, GO:0005515, GO:0005080, GO:0001786, phospholipid binding, protein binding, protein kinase C binding, phosphatidylserine binding, GO:0097320, plasma membrane tubulation, 10 7 5 7 26 36 15 8 23 ENSG00000168502 chr18 8705661 8832778 + MTCL1 protein_coding 23255 GO:0097427, GO:0097427, GO:0030496, GO:0030496, GO:0016328, GO:0016328, GO:0016327, GO:0016327, GO:0016324, GO:0005856, GO:0005737, GO:0005615, GO:0000922, GO:0000922, microtubule bundle, microtubule bundle, midbody, midbody, lateral plasma membrane, lateral plasma membrane, apicolateral plasma membrane, apicolateral plasma membrane, apical plasma membrane, cytoskeleton, cytoplasm, extracellular space, spindle pole, spindle pole, GO:0042803, GO:0008017, GO:0008017, GO:0003723, protein homodimerization activity, microtubule binding, microtubule binding, RNA binding, GO:2000576, GO:0090314, GO:0045197, GO:0045197, GO:0010506, GO:0001578, GO:0001578, positive regulation of microtubule motor activity, positive regulation of protein targeting to membrane, establishment or maintenance of epithelial cell apical/basal polarity, establishment or maintenance of epithelial cell apical/basal polarity, regulation of autophagy, microtubule bundle formation, microtubule bundle formation, 2 0 2 0 0 8 7 0 0 ENSG00000168505 chr2 236165236 236168369 - GBX2 protein_coding 2637 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0003700, GO:0001085, GO:0000981, GO:0000981, GO:0000979, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0051960, GO:0048483, GO:0045944, GO:0042472, GO:0021930, GO:0021884, GO:0021794, GO:0021568, GO:0021555, GO:0007411, GO:0007399, GO:0006357, GO:0001755, GO:0001569, regulation of nervous system development, autonomic nervous system development, positive regulation of transcription by RNA polymerase II, inner ear morphogenesis, cerebellar granule cell precursor proliferation, forebrain neuron development, thalamus development, rhombomere 2 development, midbrain-hindbrain boundary morphogenesis, axon guidance, nervous system development, regulation of transcription by RNA polymerase II, neural crest cell migration, branching involved in blood vessel morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000168509 chr1 146017468 146036746 - HJV protein_coding The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]. 148738 GO:1990712, GO:0098797, GO:0070724, GO:0031225, GO:0009986, GO:0005886, GO:0005886, GO:0005615, HFE-transferrin receptor complex, plasma membrane protein complex, BMP receptor complex, anchored component of membrane, cell surface, plasma membrane, plasma membrane, extracellular space, GO:1990459, GO:0098821, GO:0036122, GO:0015026, GO:0015026, GO:0005515, GO:0005102, transferrin receptor binding, BMP receptor activity, BMP binding, coreceptor activity, coreceptor activity, protein binding, signaling receptor binding, GO:0071773, GO:0055072, GO:0055072, GO:0045944, GO:0045944, GO:0032924, GO:0030514, GO:0030509, GO:0030509, GO:0030509, GO:0016540, GO:0006879, GO:0000122, cellular response to BMP stimulus, iron ion homeostasis, iron ion homeostasis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, activin receptor signaling pathway, negative regulation of BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, protein autoprocessing, cellular iron ion homeostasis, negative regulation of transcription by RNA polymerase II, 0 2 2 2 4 0 7 3 0 ENSG00000168515 chr11 62190216 62193539 + SCGB1D1 protein_coding The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]. 10648 GO:0005615, GO:0005615, GO:0005615, extracellular space, extracellular space, extracellular space, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000168517 chr17 45160700 45170040 + HEXIM2 protein_coding This gene encodes a member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 124790 GO:0016607, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, nuclear speck, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0097322, GO:0097322, GO:0042802, GO:0017069, GO:0005515, GO:0004861, GO:0004861, 7SK snRNA binding, 7SK snRNA binding, identical protein binding, snRNA binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, cyclin-dependent protein serine/threonine kinase inhibitor activity, GO:0045892, GO:0045736, GO:0045736, GO:0000122, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 81 83 86 48 42 63 45 43 29 ENSG00000168522 chr8 43034194 43085788 + FNTA protein_coding Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]. 2339 GO:0005965, GO:0005965, GO:0005953, GO:0005953, GO:0005886, GO:0005875, GO:0005829, GO:0005737, protein farnesyltransferase complex, protein farnesyltransferase complex, CAAX-protein geranylgeranyltransferase complex, CAAX-protein geranylgeranyltransferase complex, plasma membrane, microtubule associated complex, cytosol, cytoplasm, GO:0043014, GO:0030971, GO:0030548, GO:0008017, GO:0005515, GO:0004663, GO:0004662, GO:0004661, GO:0004660, GO:0004660, GO:0004660, alpha-tubulin binding, receptor tyrosine kinase binding, acetylcholine receptor regulator activity, microtubule binding, protein binding, Rab geranylgeranyltransferase activity, CAAX-protein geranylgeranyltransferase activity, protein geranylgeranyltransferase activity, protein farnesyltransferase activity, protein farnesyltransferase activity, protein farnesyltransferase activity, GO:0099601, GO:0090045, GO:0090044, GO:0071340, GO:0045213, GO:0022400, GO:0018344, GO:0018344, GO:0018343, GO:0018343, GO:0007179, regulation of neurotransmitter receptor activity, positive regulation of deacetylase activity, positive regulation of tubulin deacetylation, skeletal muscle acetylcholine-gated channel clustering, neurotransmitter receptor metabolic process, regulation of rhodopsin mediated signaling pathway, protein geranylgeranylation, protein geranylgeranylation, protein farnesylation, protein farnesylation, transforming growth factor beta receptor signaling pathway, 330 250 544 274 272 310 297 221 253 ENSG00000168528 chr1 31409565 31434680 + SERINC2 protein_coding 347735 GO:0070062, GO:0016021, GO:0016020, extracellular exosome, integral component of membrane, membrane, GO:1904222, GO:1904219, GO:0006665, GO:0006658, positive regulation of serine C-palmitoyltransferase activity, positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity, sphingolipid metabolic process, phosphatidylserine metabolic process, 6 5 15 1 1 1 0 1 5 ENSG00000168530 chr2 210290150 210315190 - MYL1 protein_coding Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]. 4632 GO:0030017, GO:0030016, GO:0005859, GO:0005829, sarcomere, myofibril, muscle myosin complex, cytosol, GO:0008307, GO:0008307, GO:0005509, structural constituent of muscle, structural constituent of muscle, calcium ion binding, GO:0060048, GO:0030049, GO:0030049, GO:0006936, cardiac muscle contraction, muscle filament sliding, muscle filament sliding, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000168538 chr4 183659267 183713594 + TRAPPC11 protein_coding The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 60684 GO:0030008, GO:0005829, GO:0005794, TRAPP complex, cytosol, Golgi apparatus, GO:0005515, protein binding, GO:0061635, GO:0045054, GO:0007030, GO:0006888, regulation of protein complex stability, constitutive secretory pathway, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, 230 193 305 218 231 255 193 217 249 ENSG00000168539 chr11 62908679 62921807 - CHRM1 protein_coding The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]. 1128 GO:0099056, GO:0098685, GO:0045211, GO:0045202, GO:0043679, GO:0030425, GO:0016020, GO:0014069, GO:0005887, GO:0005886, integral component of presynaptic membrane, Schaffer collateral - CA1 synapse, postsynaptic membrane, synapse, axon terminus, dendrite, membrane, postsynaptic density, integral component of plasma membrane, plasma membrane, GO:0099529, GO:0030594, GO:0016907, GO:0005515, GO:0004993, GO:0004435, neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, G protein-coupled acetylcholine receptor activity, protein binding, G protein-coupled serotonin receptor activity, phosphatidylinositol phospholipase C activity, GO:0098664, GO:0090316, GO:0060251, GO:0060078, GO:0050890, GO:0046541, GO:0043270, GO:0040012, GO:0007399, GO:0007274, GO:0007268, GO:0007213, GO:0007207, GO:0007205, GO:0007197, GO:0007187, GO:0007186, GO:0007165, G protein-coupled serotonin receptor signaling pathway, positive regulation of intracellular protein transport, regulation of glial cell proliferation, regulation of postsynaptic membrane potential, cognition, saliva secretion, positive regulation of ion transport, regulation of locomotion, nervous system development, neuromuscular synaptic transmission, chemical synaptic transmission, G protein-coupled acetylcholine receptor signaling pathway, phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway, protein kinase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 2 0 2 0 ENSG00000168542 chr2 188974320 189012746 + COL3A1 protein_coding This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]. 1281 GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005586, GO:0005586, GO:0005586, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, collagen type III trimer, collagen type III trimer, collagen type III trimer, extracellular region, extracellular region, GO:0048407, GO:0046872, GO:0046332, GO:0030020, GO:0030020, GO:0005515, GO:0005201, GO:0005201, GO:0005178, GO:0005178, GO:0002020, platelet-derived growth factor binding, metal ion binding, SMAD binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, integrin binding, integrin binding, protease binding, GO:2001223, GO:0097435, GO:0071230, GO:0060414, GO:0050777, GO:0050776, GO:0048565, GO:0043588, GO:0042060, GO:0042060, GO:0035025, GO:0034097, GO:0030199, GO:0030199, GO:0030198, GO:0030198, GO:0030168, GO:0021987, GO:0018149, GO:0009612, GO:0009314, GO:0007507, GO:0007229, GO:0007179, GO:0007160, GO:0001501, negative regulation of neuron migration, supramolecular fiber organization, cellular response to amino acid stimulus, aorta smooth muscle tissue morphogenesis, negative regulation of immune response, regulation of immune response, digestive tract development, skin development, wound healing, wound healing, positive regulation of Rho protein signal transduction, response to cytokine, collagen fibril organization, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, platelet activation, cerebral cortex development, peptide cross-linking, response to mechanical stimulus, response to radiation, heart development, integrin-mediated signaling pathway, transforming growth factor beta receptor signaling pathway, cell-matrix adhesion, skeletal system development, 0 0 0 0 0 0 6 0 0 ENSG00000168546 chr8 21690403 21812357 - GFRA2 protein_coding Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 2675 GO:0043235, GO:0031225, GO:0019898, GO:0009897, GO:0005886, receptor complex, anchored component of membrane, extrinsic component of membrane, external side of plasma membrane, plasma membrane, GO:0038023, GO:0016167, signaling receptor activity, glial cell-derived neurotrophic factor receptor activity, GO:0035860, GO:0031953, GO:0007411, GO:0007399, GO:0007169, GO:0000165, glial cell-derived neurotrophic factor receptor signaling pathway, negative regulation of protein autophosphorylation, axon guidance, nervous system development, transmembrane receptor protein tyrosine kinase signaling pathway, MAPK cascade, 0 0 0 0 0 1 0 1 0 ENSG00000168556 chr4 183504994 183511096 + ING2 protein_coding This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 3622 GO:0016602, GO:0016580, GO:0005886, GO:0005829, GO:0005794, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, CCAAT-binding factor complex, Sin3 complex, plasma membrane, cytosol, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0046872, GO:0044877, GO:0035091, GO:0035064, GO:0035064, GO:0005515, GO:0003682, GO:0003677, metal ion binding, protein-containing complex binding, phosphatidylinositol binding, methylated histone binding, methylated histone binding, protein binding, chromatin binding, DNA binding, GO:2001020, GO:2000772, GO:1902166, GO:0072520, GO:0048133, GO:0045893, GO:0045893, GO:0040008, GO:0031065, GO:0030511, GO:0030317, GO:0008285, GO:0007286, GO:0007283, GO:0007165, GO:0007141, GO:0006355, GO:0006325, regulation of response to DNA damage stimulus, regulation of cellular senescence, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, seminiferous tubule development, male germ-line stem cell asymmetric division, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of growth, positive regulation of histone deacetylation, positive regulation of transforming growth factor beta receptor signaling pathway, flagellated sperm motility, negative regulation of cell population proliferation, spermatid development, spermatogenesis, signal transduction, male meiosis I, regulation of transcription, DNA-templated, chromatin organization, 117 95 162 35 95 88 46 92 66 ENSG00000168564 chr4 183444591 183448198 + CDKN2AIP protein_coding The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 55602 GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0001652, nucleolus, nucleolus, nucleoplasm, nucleoplasm, granular component, GO:0005515, GO:0003723, GO:0002039, protein binding, RNA binding, p53 binding, GO:0031647, GO:0030308, GO:0030307, GO:0009967, GO:0006974, regulation of protein stability, negative regulation of cell growth, positive regulation of cell growth, positive regulation of signal transduction, cellular response to DNA damage stimulus, 87 66 119 215 298 319 130 159 206 ENSG00000168566 chr6 7590199 7611967 + SNRNP48 protein_coding 154007 GO:0005829, GO:0005829, GO:0005689, GO:0005689, GO:0005654, GO:0005654, GO:0005654, cytosol, cytosol, U12-type spliceosomal complex, U12-type spliceosomal complex, nucleoplasm, nucleoplasm, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0008380, GO:0000398, RNA splicing, mRNA splicing, via spliceosome, 231 198 182 194 213 287 234 192 167 ENSG00000168569 chr11 62771629 62792021 - TMEM223 protein_coding 79064 GO:0016021, integral component of membrane, GO:0007399, nervous system development, 100 128 108 57 117 114 78 100 62 ENSG00000168575 chr8 42416475 42541926 - SLC20A2 protein_coding This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. 6575 GO:0070062, GO:0016020, GO:0005887, GO:0005886, extracellular exosome, membrane, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005436, GO:0005315, GO:0001618, signaling receptor activity, sodium:phosphate symporter activity, inorganic phosphate transmembrane transporter activity, virus receptor activity, GO:0046718, GO:0035725, GO:0035435, GO:0006811, viral entry into host cell, sodium ion transmembrane transport, phosphate ion transmembrane transport, ion transport, 47 47 67 84 67 100 89 43 67 ENSG00000168582 chr2 208160740 208163576 - CRYGA protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]. 1418 GO:0005575, cellular_component, GO:0005212, GO:0005212, structural constituent of eye lens, structural constituent of eye lens, GO:0007601, GO:0007601, GO:0002088, visual perception, visual perception, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000168589 chr16 80540734 80550760 + DYNLRB2 protein_coding 83657 GO:0097542, GO:0005929, GO:0005874, GO:0005868, GO:0005868, GO:0005868, GO:0005813, GO:0005737, ciliary tip, cilium, microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, cytoplasmic dynein complex, centrosome, cytoplasm, GO:0045505, GO:0003777, dynein intermediate chain binding, microtubule motor activity, GO:0035735, GO:0007018, GO:0007018, intraciliary transport involved in cilium assembly, microtubule-based movement, microtubule-based movement, 1 3 1 2 2 5 0 4 4 ENSG00000168591 chr17 44186970 44191731 + TMUB2 protein_coding 79089 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0030433, ubiquitin-dependent ERAD pathway, 1861 1850 2030 917 1306 1045 848 992 886 ENSG00000168594 chr4 174829668 174978180 + ADAM29 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]. 11086 GO:1990913, GO:0009897, GO:0005887, GO:0005886, sperm head plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0008237, GO:0004222, metallopeptidase activity, metalloendopeptidase activity, GO:0008584, GO:0007283, GO:0006508, male gonad development, spermatogenesis, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000168610 chr17 42313324 42388568 - STAT3 protein_coding The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]. 6774 GO:0098978, GO:0090575, GO:0090575, GO:0014069, GO:0005886, GO:0005829, GO:0005829, GO:0005743, GO:0005737, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, glutamatergic synapse, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, postsynaptic density, plasma membrane, cytosol, cytosol, mitochondrial inner membrane, cytoplasm, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, chromatin, GO:0070878, GO:0046983, GO:0042803, GO:0042802, GO:0035259, GO:0031730, GO:0031490, GO:0019903, GO:0019901, GO:0008134, GO:0005515, GO:0004879, GO:0003700, GO:0003700, GO:0003677, GO:0001228, GO:0001228, GO:0001103, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, primary miRNA binding, protein dimerization activity, protein homodimerization activity, identical protein binding, glucocorticoid receptor binding, CCR5 chemokine receptor binding, chromatin DNA binding, protein phosphatase binding, protein kinase binding, transcription factor binding, protein binding, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II repressing transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001223, GO:2001171, GO:2000737, GO:2000637, GO:2000635, GO:1905618, GO:1905564, GO:1904685, GO:1902895, GO:1902728, GO:1901215, GO:1900017, GO:0099527, GO:0097009, GO:0072540, GO:0072538, GO:0071407, GO:0071345, GO:0070757, GO:0070106, GO:0070102, GO:0070102, GO:0070102, GO:0060397, GO:0060397, GO:0060397, GO:0060396, GO:0060259, GO:0060019, GO:0051726, GO:0051092, GO:0048708, GO:0046902, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045820, GO:0045766, GO:0045747, GO:0045648, GO:0045471, GO:0044321, GO:0044320, GO:0043434, GO:0042789, GO:0042755, GO:0042593, GO:0042531, GO:0042493, GO:0042127, GO:0040014, GO:0038155, GO:0038114, GO:0038113, GO:0038111, GO:0035723, GO:0035019, GO:0033210, GO:0033210, GO:0032870, GO:0032760, GO:0032757, GO:0032755, GO:0032733, GO:0032731, GO:0032355, GO:0030522, GO:0030335, GO:0019953, GO:0019221, GO:0019221, GO:0019221, GO:0016310, GO:0016032, GO:0010730, GO:0010628, GO:0010628, GO:0010507, GO:0008285, GO:0008283, GO:0007568, GO:0007399, GO:0007259, GO:0007259, GO:0007165, GO:0006954, GO:0006953, GO:0006952, GO:0006606, GO:0006357, GO:0006357, GO:0006355, GO:0001754, GO:0001659, GO:0000122, negative regulation of neuron migration, positive regulation of ATP biosynthetic process, negative regulation of stem cell differentiation, positive regulation of gene silencing by miRNA, negative regulation of primary miRNA processing, positive regulation of miRNA mediated inhibition of translation, positive regulation of vascular endothelial cell proliferation, positive regulation of metalloendopeptidase activity, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of growth factor dependent skeletal muscle satellite cell proliferation, negative regulation of neuron death, positive regulation of cytokine production involved in inflammatory response, postsynapse to nucleus signaling pathway, energy homeostasis, T-helper 17 cell lineage commitment, T-helper 17 type immune response, cellular response to organic cyclic compound, cellular response to cytokine stimulus, interleukin-35-mediated signaling pathway, interleukin-27-mediated signaling pathway, interleukin-6-mediated signaling pathway, interleukin-6-mediated signaling pathway, interleukin-6-mediated signaling pathway, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway, regulation of feeding behavior, radial glial cell differentiation, regulation of cell cycle, positive regulation of NF-kappaB transcription factor activity, astrocyte differentiation, regulation of mitochondrial membrane permeability, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of glycolytic process, positive regulation of angiogenesis, positive regulation of Notch signaling pathway, positive regulation of erythrocyte differentiation, response to ethanol, response to leptin, cellular response to leptin stimulus, response to peptide hormone, mRNA transcription by RNA polymerase II, eating behavior, glucose homeostasis, positive regulation of tyrosine phosphorylation of STAT protein, response to drug, regulation of cell population proliferation, regulation of multicellular organism growth, interleukin-23-mediated signaling pathway, interleukin-21-mediated signaling pathway, interleukin-9-mediated signaling pathway, interleukin-7-mediated signaling pathway, interleukin-15-mediated signaling pathway, somatic stem cell population maintenance, leptin-mediated signaling pathway, leptin-mediated signaling pathway, cellular response to hormone stimulus, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 beta production, response to estradiol, intracellular receptor signaling pathway, positive regulation of cell migration, sexual reproduction, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, phosphorylation, viral process, negative regulation of hydrogen peroxide biosynthetic process, positive regulation of gene expression, positive regulation of gene expression, negative regulation of autophagy, negative regulation of cell population proliferation, cell population proliferation, aging, nervous system development, receptor signaling pathway via JAK-STAT, receptor signaling pathway via JAK-STAT, signal transduction, inflammatory response, acute-phase response, defense response, protein import into nucleus, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, eye photoreceptor cell differentiation, temperature homeostasis, negative regulation of transcription by RNA polymerase II, 8741 8082 11910 3292 5097 4856 3977 4297 4303 ENSG00000168612 chr20 45881227 45885266 + ZSWIM1 protein_coding 90204 GO:0005634, nucleus, GO:0008270, zinc ion binding, 66 69 61 54 101 45 43 38 23 ENSG00000168615 chr8 38996869 39105144 + ADAM9 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]. 8754 GO:0070062, GO:0031233, GO:0016323, GO:0016021, GO:0009986, GO:0005925, GO:0005615, GO:0005615, extracellular exosome, intrinsic component of external side of plasma membrane, basolateral plasma membrane, integral component of membrane, cell surface, focal adhesion, extracellular space, extracellular space, GO:0046872, GO:0043236, GO:0017124, GO:0017124, GO:0008237, GO:0005518, GO:0005515, GO:0005178, GO:0005178, GO:0005178, GO:0005178, GO:0005080, GO:0004222, GO:0004222, GO:0004222, metal ion binding, laminin binding, SH3 domain binding, SH3 domain binding, metallopeptidase activity, collagen binding, protein binding, integrin binding, integrin binding, integrin binding, integrin binding, protein kinase C binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0097327, GO:0071222, GO:0051592, GO:0051549, GO:0051384, GO:0051044, GO:0050714, GO:0042542, GO:0042117, GO:0034616, GO:0034612, GO:0034241, GO:0033631, GO:0033631, GO:0033630, GO:0033627, GO:0033627, GO:0031293, GO:0030335, GO:0030216, GO:0016477, GO:0010042, GO:0007229, GO:0007179, GO:0007179, GO:0007179, GO:0007160, GO:0007155, GO:0006509, GO:0006509, GO:0006509, GO:0000186, response to antineoplastic agent, cellular response to lipopolysaccharide, response to calcium ion, positive regulation of keratinocyte migration, response to glucocorticoid, positive regulation of membrane protein ectodomain proteolysis, positive regulation of protein secretion, response to hydrogen peroxide, monocyte activation, response to laminar fluid shear stress, response to tumor necrosis factor, positive regulation of macrophage fusion, cell-cell adhesion mediated by integrin, cell-cell adhesion mediated by integrin, positive regulation of cell adhesion mediated by integrin, cell adhesion mediated by integrin, cell adhesion mediated by integrin, membrane protein intracellular domain proteolysis, positive regulation of cell migration, keratinocyte differentiation, cell migration, response to manganese ion, integrin-mediated signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, cell-matrix adhesion, cell adhesion, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, activation of MAPKK activity, 184 211 352 65 87 153 70 106 146 ENSG00000168619 chr8 39584489 39730064 + ADAM18 protein_coding This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 8749 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0008237, GO:0004222, metallopeptidase activity, metalloendopeptidase activity, GO:0030154, GO:0007339, GO:0007283, GO:0007275, GO:0007155, GO:0006508, cell differentiation, binding of sperm to zona pellucida, spermatogenesis, multicellular organism development, cell adhesion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000168621 chr5 37812677 37839686 - GDNF protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]. 2668 GO:0005794, GO:0005615, GO:0005576, GO:0005576, Golgi apparatus, extracellular space, extracellular region, extracellular region, GO:1902379, GO:0042803, GO:0030971, GO:0030116, GO:0008083, GO:0005515, GO:0005102, chemoattractant activity involved in axon guidance, protein homodimerization activity, receptor tyrosine kinase binding, glial cell-derived neurotrophic factor receptor binding, growth factor activity, protein binding, signaling receptor binding, GO:2001260, GO:2001240, GO:2000736, GO:0090190, GO:0090190, GO:0072108, GO:0072107, GO:0071679, GO:0061642, GO:0060688, GO:0060676, GO:0051584, GO:0048568, GO:0048485, GO:0048484, GO:0048255, GO:0045944, GO:0045597, GO:0043524, GO:0043524, GO:0043066, GO:0033603, GO:0032770, GO:0031175, GO:0031175, GO:0030432, GO:0021784, GO:0021516, GO:0010468, GO:0008344, GO:0008284, GO:0007422, GO:0007411, GO:0007399, GO:0007165, GO:0003337, GO:0001941, GO:0001759, GO:0001755, GO:0001658, GO:0001656, GO:0000165, regulation of semaphorin-plexin signaling pathway, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, regulation of stem cell differentiation, positive regulation of branching involved in ureteric bud morphogenesis, positive regulation of branching involved in ureteric bud morphogenesis, positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis, positive regulation of ureteric bud formation, commissural neuron axon guidance, chemoattraction of axon, regulation of morphogenesis of a branching structure, ureteric bud formation, regulation of dopamine uptake involved in synaptic transmission, embryonic organ development, sympathetic nervous system development, enteric nervous system development, mRNA stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of cell differentiation, negative regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, positive regulation of dopamine secretion, positive regulation of monooxygenase activity, neuron projection development, neuron projection development, peristalsis, postganglionic parasympathetic fiber development, dorsal spinal cord development, regulation of gene expression, adult locomotory behavior, positive regulation of cell population proliferation, peripheral nervous system development, axon guidance, nervous system development, signal transduction, mesenchymal to epithelial transition involved in metanephros morphogenesis, postsynaptic membrane organization, organ induction, neural crest cell migration, branching involved in ureteric bud morphogenesis, metanephros development, MAPK cascade, 0 2 0 0 0 0 0 0 0 ENSG00000168630 chr20 45749920 45750074 + SPINT5P processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000168631 chr6 30934523 30954221 + MUCL3 protein_coding 135656 GO:0016021, GO:0005886, GO:0005737, GO:0005575, integral component of membrane, plasma membrane, cytoplasm, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000168634 chr20 45702016 45708817 + WFDC13 protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]. 164237 GO:0005615, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0019731, GO:0010951, innate immune response, antibacterial humoral response, negative regulation of endopeptidase activity, 0 0 0 0 3 0 2 0 0 ENSG00000168646 chr17 65528563 65561647 - AXIN2 protein_coding The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]. 8313 GO:0030877, GO:0005829, GO:0005813, GO:0005737, GO:0005634, beta-catenin destruction complex, cytosol, centrosome, cytoplasm, nucleus, GO:0070411, GO:0031625, GO:0019899, GO:0008013, GO:0005515, I-SMAD binding, ubiquitin protein ligase binding, enzyme binding, beta-catenin binding, protein binding, GO:1904837, GO:0090263, GO:0090090, GO:0090090, GO:0070602, GO:0061181, GO:0048255, GO:0045668, GO:0043570, GO:0042476, GO:0034613, GO:0032423, GO:0030282, GO:0016055, GO:0010942, GO:0010718, GO:0008285, GO:0008283, GO:0003413, GO:0003139, GO:0001957, GO:0001934, GO:0001756, beta-catenin-TCF complex assembly, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, regulation of centromeric sister chromatid cohesion, regulation of chondrocyte development, mRNA stabilization, negative regulation of osteoblast differentiation, maintenance of DNA repeat elements, odontogenesis, cellular protein localization, regulation of mismatch repair, bone mineralization, Wnt signaling pathway, positive regulation of cell death, positive regulation of epithelial to mesenchymal transition, negative regulation of cell population proliferation, cell population proliferation, chondrocyte differentiation involved in endochondral bone morphogenesis, secondary heart field specification, intramembranous ossification, positive regulation of protein phosphorylation, somitogenesis, 10 11 16 17 5 27 20 11 16 ENSG00000168653 chr1 39026318 39034636 + NDUFS5 protein_coding This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010]. 4725 GO:0005758, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial intermembrane space, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0032981, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 60 48 64 98 75 90 82 78 68 ENSG00000168658 chr2 98087116 98313299 + VWA3B protein_coding This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]. 200403 GO:0005829, GO:0005654, cytosol, nucleoplasm, 0 0 0 3 3 0 0 0 0 ENSG00000168661 chr19 34926903 34945170 + ZNF30 protein_coding 90075 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 0 1 19 1 8 2 1 2 ENSG00000168671 chr5 36035017 36071358 - UGT3A2 protein_coding 167127 GO:0043231, GO:0016021, intracellular membrane-bounded organelle, integral component of membrane, GO:0015020, GO:0008194, GO:0008194, glucuronosyltransferase activity, UDP-glycosyltransferase activity, UDP-glycosyltransferase activity, GO:0071412, cellular response to genistein, 0 0 0 1 0 0 1 0 0 ENSG00000168672 chr8 126552442 126558393 - FAM84B protein_coding 157638 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0005515, protein binding, 31 12 34 46 10 37 34 15 56 ENSG00000168675 chr18 13217498 13652755 + LDLRAD4 protein_coding 753 GO:0043231, GO:0031901, GO:0016021, GO:0000139, intracellular membrane-bounded organelle, early endosome membrane, integral component of membrane, Golgi membrane, GO:0070412, GO:0070412, R-SMAD binding, R-SMAD binding, GO:0060394, GO:0060394, GO:0030512, GO:0030512, GO:0030336, GO:0010991, GO:0010991, GO:0010719, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell migration, negative regulation of SMAD protein complex assembly, negative regulation of SMAD protein complex assembly, negative regulation of epithelial to mesenchymal transition, 51 63 80 72 83 117 79 65 65 ENSG00000168676 chr16 67289428 67326763 - KCTD19 protein_coding 146212 GO:0005515, protein binding, GO:0051260, protein homooligomerization, 0 0 0 0 0 0 0 0 2 ENSG00000168679 chr1 110362848 110391082 - SLC16A4 protein_coding 9122 GO:0016021, GO:0016020, GO:0005887, integral component of membrane, membrane, integral component of plasma membrane, GO:0015293, GO:0008028, symporter activity, monocarboxylic acid transmembrane transporter activity, GO:0055085, GO:0015718, transmembrane transport, monocarboxylic acid transport, 17 4 14 11 17 18 16 13 16 ENSG00000168685 chr5 35852695 35879603 + IL7R protein_coding The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]. 3575 GO:0030665, GO:0016021, GO:0009897, GO:0005886, GO:0005576, clathrin-coated vesicle membrane, integral component of membrane, external side of plasma membrane, plasma membrane, extracellular region, GO:0005515, GO:0004917, GO:0004896, GO:0003823, protein binding, interleukin-7 receptor activity, cytokine receptor activity, antigen binding, GO:1904894, GO:0070233, GO:0061024, GO:0050830, GO:0048872, GO:0048535, GO:0042100, GO:0038111, GO:0033089, GO:0030217, GO:0010628, GO:0008361, GO:0008284, GO:0007166, GO:0007165, GO:0006955, GO:0002377, GO:0001915, GO:0000902, GO:0000018, positive regulation of receptor signaling pathway via STAT, negative regulation of T cell apoptotic process, membrane organization, defense response to Gram-positive bacterium, homeostasis of number of cells, lymph node development, B cell proliferation, interleukin-7-mediated signaling pathway, positive regulation of T cell differentiation in thymus, T cell differentiation, positive regulation of gene expression, regulation of cell size, positive regulation of cell population proliferation, cell surface receptor signaling pathway, signal transduction, immune response, immunoglobulin production, negative regulation of T cell mediated cytotoxicity, cell morphogenesis, regulation of DNA recombination, 1820 1097 2966 2905 867 2975 2573 759 2008 ENSG00000168701 chr16 67227103 67229278 + TMEM208 protein_coding This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and triggered ER stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 29100 GO:0043231, GO:0016021, GO:0005789, GO:0005773, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, vacuole, GO:0005515, protein binding, GO:0006914, GO:0006624, autophagy, vacuolar protein processing, 98 78 101 45 54 56 63 47 41 ENSG00000168702 chr2 140231423 142131701 - LRP1B protein_coding This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]. 53353 GO:0043235, GO:0043235, GO:0016021, GO:0005886, receptor complex, receptor complex, integral component of membrane, plasma membrane, GO:0005515, GO:0005509, GO:0005041, protein binding, calcium ion binding, low-density lipoprotein particle receptor activity, GO:0015031, GO:0006898, protein transport, receptor-mediated endocytosis, 0 0 0 3 0 3 1 0 0 ENSG00000168703 chr20 45123425 45124465 - WFDC12 protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]. 128488 GO:0005615, extracellular space, GO:0005515, GO:0004867, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0042742, GO:0019731, GO:0010951, innate immune response, defense response to bacterium, antibacterial humoral response, negative regulation of endopeptidase activity, 3 4 0 1 9 0 1 1 0 ENSG00000168710 chr1 109984686 110023741 + AHCYL1 protein_coding The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 10768 GO:0070062, GO:0044233, GO:0016324, GO:0005829, GO:0005789, GO:0005737, extracellular exosome, mitochondria-associated endoplasmic reticulum membrane, apical plasma membrane, cytosol, endoplasmic reticulum membrane, cytoplasm, GO:0042802, GO:0005515, GO:0004013, GO:0003723, identical protein binding, protein binding, adenosylhomocysteinase activity, RNA binding, GO:1990456, GO:1903779, GO:0051592, GO:0044070, GO:0042045, GO:0038166, GO:0033353, GO:0032412, GO:0031440, GO:0010765, GO:0006915, GO:0006730, GO:0006611, GO:0006378, mitochondrion-endoplasmic reticulum membrane tethering, regulation of cardiac conduction, response to calcium ion, regulation of anion transport, epithelial fluid transport, angiotensin-activated signaling pathway, S-adenosylmethionine cycle, regulation of ion transmembrane transporter activity, regulation of mRNA 3'-end processing, positive regulation of sodium ion transport, apoptotic process, one-carbon metabolic process, protein export from nucleus, mRNA polyadenylation, 1030 973 1247 540 666 533 468 505 436 ENSG00000168724 chr5 34929559 34958964 + DNAJC21 protein_coding This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]. 134218 GO:0005840, GO:0005737, GO:0005730, ribosome, cytoplasm, nucleolus, GO:0008270, GO:0005515, GO:0003723, zinc ion binding, protein binding, RNA binding, GO:0006457, protein folding, 188 136 285 227 161 283 209 136 252 ENSG00000168734 chr20 44531785 44624247 + PKIG protein_coding This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 11142 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0004862, protein binding, cAMP-dependent protein kinase inhibitor activity, GO:2000480, GO:0042308, GO:0007165, GO:0000122, negative regulation of cAMP-dependent protein kinase activity, negative regulation of protein import into nucleus, signal transduction, negative regulation of transcription by RNA polymerase II, 9 6 6 13 10 9 8 9 15 ENSG00000168743 chr4 105894775 106004027 + NPNT protein_coding 255743 GO:0070062, GO:0062023, GO:0062023, GO:0034678, GO:0030485, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, integrin alpha8-beta1 complex, smooth muscle contractile fiber, basement membrane, extracellular region, GO:0005509, GO:0005201, GO:0005178, GO:0005178, calcium ion binding, extracellular matrix structural constituent, integrin binding, integrin binding, GO:2000721, GO:0097195, GO:0071356, GO:0070374, GO:0045987, GO:0045669, GO:0045184, GO:0033631, GO:0030511, GO:0030198, GO:0010811, GO:0010694, GO:0007160, GO:0001658, GO:0001657, positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation, pilomotor reflex, cellular response to tumor necrosis factor, positive regulation of ERK1 and ERK2 cascade, positive regulation of smooth muscle contraction, positive regulation of osteoblast differentiation, establishment of protein localization, cell-cell adhesion mediated by integrin, positive regulation of transforming growth factor beta receptor signaling pathway, extracellular matrix organization, positive regulation of cell-substrate adhesion, positive regulation of alkaline phosphatase activity, cell-matrix adhesion, branching involved in ureteric bud morphogenesis, ureteric bud development, 0 0 0 0 0 0 0 0 0 ENSG00000168746 chr20 44436172 44465349 - LINC01620 lincRNA 140834 0 0 1 0 4 0 0 4 2 ENSG00000168748 chr16 66844379 66854153 + CA7 protein_coding Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the brain and contributes to bicarbonate driven GABAergic neuron excitation. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2018]. 766 GO:0005829, cytosol, GO:0016836, GO:0008270, GO:0004089, hydro-lyase activity, zinc ion binding, carbonate dehydratase activity, GO:2001225, GO:0051453, GO:0032849, GO:0032230, GO:0015701, GO:0006730, regulation of chloride transport, regulation of intracellular pH, positive regulation of cellular pH reduction, positive regulation of synaptic transmission, GABAergic, bicarbonate transport, one-carbon metabolic process, 0 0 1 3 0 0 0 0 0 ENSG00000168754 chr2 96875882 96986592 - FAM178B protein_coding 51252 0 0 0 0 0 0 2 0 2 ENSG00000168757 chrY 6246223 6249019 + TSPY2 protein_coding 64591 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0030154, GO:0007506, GO:0007283, GO:0006334, cell differentiation, gonadal mesoderm development, spermatogenesis, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000168758 chr2 96859716 96870757 - SEMA4C protein_coding 54910 GO:0098839, GO:0030672, GO:0014069, GO:0005887, GO:0005615, GO:0005615, postsynaptic density membrane, synaptic vesicle membrane, postsynaptic density, integral component of plasma membrane, extracellular space, extracellular space, GO:0045499, GO:0030215, GO:0005515, chemorepellent activity, semaphorin receptor binding, protein binding, GO:0071526, GO:0071526, GO:0050919, GO:0048843, GO:0042692, GO:0042692, GO:0032874, GO:0030335, GO:0021549, GO:0021535, GO:0007411, GO:0001843, GO:0001755, semaphorin-plexin signaling pathway, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, muscle cell differentiation, muscle cell differentiation, positive regulation of stress-activated MAPK cascade, positive regulation of cell migration, cerebellum development, cell migration in hindbrain, axon guidance, neural tube closure, neural crest cell migration, 60 29 127 71 20 59 85 24 55 ENSG00000168763 chr2 96816245 96833911 + CNNM3 protein_coding 26505 GO:0043231, GO:0016021, GO:0016020, GO:0005886, intracellular membrane-bounded organelle, integral component of membrane, membrane, plasma membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, GO:0006811, GO:0006810, transmembrane transport, ion transport, transport, 270 342 369 164 236 233 205 240 164 ENSG00000168765 chr1 109656081 109674836 + GSTM4 protein_coding Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008]. 2948 GO:0045171, GO:0005829, GO:0005829, GO:0005737, intercellular bridge, cytosol, cytosol, cytoplasm, GO:0043295, GO:0042803, GO:0019899, GO:0005515, GO:0004464, GO:0004364, GO:0004364, glutathione binding, protein homodimerization activity, enzyme binding, protein binding, leukotriene-C4 synthase activity, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0042759, GO:0042759, GO:0042178, GO:0018916, GO:0006749, GO:0006749, glutathione derivative biosynthetic process, long-chain fatty acid biosynthetic process, long-chain fatty acid biosynthetic process, xenobiotic catabolic process, nitrobenzene metabolic process, glutathione metabolic process, glutathione metabolic process, 1 22 33 10 10 32 2 3 9 ENSG00000168769 chr4 105145875 105279816 + TET2 protein_coding The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 54790 GO:0005634, nucleus, GO:0070579, GO:0070579, GO:0070579, GO:0070579, GO:0008270, GO:0008198, GO:0005515, GO:0003677, methylcytosine dioxygenase activity, methylcytosine dioxygenase activity, methylcytosine dioxygenase activity, methylcytosine dioxygenase activity, zinc ion binding, ferrous iron binding, protein binding, DNA binding, GO:0080182, GO:0080111, GO:0080111, GO:0070989, GO:0045944, GO:0045944, GO:0030099, GO:0030099, GO:0014070, GO:0007049, GO:0006493, GO:0006493, GO:0006211, histone H3-K4 trimethylation, DNA demethylation, DNA demethylation, oxidative demethylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, myeloid cell differentiation, myeloid cell differentiation, response to organic cyclic compound, cell cycle, protein O-linked glycosylation, protein O-linked glycosylation, 5-methylcytosine catabolic process, 6773 6460 7603 4135 7386 6575 5530 5470 5865 ENSG00000168772 chr4 104468312 104494901 - CXXC4 protein_coding This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 80319 GO:0031410, GO:0005737, GO:0005634, cytoplasmic vesicle, cytoplasm, nucleus, GO:0030165, GO:0008327, GO:0008327, GO:0008270, PDZ domain binding, methyl-CpG binding, methyl-CpG binding, zinc ion binding, GO:0030178, GO:0016055, GO:0007352, negative regulation of Wnt signaling pathway, Wnt signaling pathway, zygotic specification of dorsal/ventral axis, 0 0 0 2 0 0 1 1 0 ENSG00000168778 chr12 123671113 123708403 + TCTN2 protein_coding This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 79867 GO:0060170, GO:0036038, GO:0036038, GO:0016021, GO:0005856, GO:0005737, ciliary membrane, MKS complex, MKS complex, integral component of membrane, cytoskeleton, cytoplasm, GO:1904491, GO:0097711, GO:0060271, GO:0060271, GO:0007224, GO:0007224, protein localization to ciliary transition zone, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, smoothened signaling pathway, smoothened signaling pathway, 3 8 2 16 2 7 7 0 11 ENSG00000168779 chr3 158095954 158106503 - SHOX2 protein_coding This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. 6474 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0003677, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:2000172, GO:0060415, GO:0060351, GO:0060272, GO:0050772, GO:0048743, GO:0048557, GO:0045880, GO:0035115, GO:0032330, GO:0007507, GO:0007399, GO:0006357, GO:0006357, GO:0003209, GO:0003170, GO:0002063, GO:0002053, GO:0001649, GO:0001501, regulation of branching morphogenesis of a nerve, muscle tissue morphogenesis, cartilage development involved in endochondral bone morphogenesis, embryonic skeletal joint morphogenesis, positive regulation of axonogenesis, positive regulation of skeletal muscle fiber development, embryonic digestive tract morphogenesis, positive regulation of smoothened signaling pathway, embryonic forelimb morphogenesis, regulation of chondrocyte differentiation, heart development, nervous system development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, cardiac atrium morphogenesis, heart valve development, chondrocyte development, positive regulation of mesenchymal cell proliferation, osteoblast differentiation, skeletal system development, 2 0 1 0 0 5 2 0 1 ENSG00000168781 chr15 43533462 43590253 - PPIP5K1 protein_coding This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]. 9677 GO:0005886, GO:0005829, GO:0005829, GO:0005829, plasma membrane, cytosol, cytosol, cytosol, GO:0102092, GO:0052724, GO:0052723, GO:0033857, GO:0033857, GO:0005524, GO:0000832, GO:0000829, GO:0000828, GO:0000828, GO:0000827, 5-diphosphoinositol pentakisphosphate 3-kinase activity, inositol hexakisphosphate 3-kinase activity, inositol hexakisphosphate 1-kinase activity, diphosphoinositol-pentakisphosphate kinase activity, diphosphoinositol-pentakisphosphate kinase activity, ATP binding, inositol hexakisphosphate 5-kinase activity, inositol heptakisphosphate kinase activity, inositol hexakisphosphate kinase activity, inositol hexakisphosphate kinase activity, inositol-1,3,4,5,6-pentakisphosphate kinase activity, GO:0043647, GO:0032958, GO:0016310, GO:0006020, GO:0006020, inositol phosphate metabolic process, inositol phosphate biosynthetic process, phosphorylation, inositol metabolic process, inositol metabolic process, 7 10 4 14 9 18 19 13 25 ENSG00000168785 chr4 98470367 98658629 - TSPAN5 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]. 10098 GO:0005887, GO:0005886, GO:0005886, GO:0005788, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum lumen, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:0072659, GO:0072659, GO:0051604, GO:0051604, GO:0045747, GO:0044267, protein localization to plasma membrane, protein localization to plasma membrane, protein maturation, protein maturation, positive regulation of Notch signaling pathway, cellular protein metabolic process, 8 4 16 20 4 16 14 9 11 ENSG00000168792 chr17 29560547 29567137 - ABHD15 protein_coding 116236 GO:0016020, GO:0005576, membrane, extracellular region, GO:0047372, GO:0034338, GO:0005515, acylglycerol lipase activity, short-chain carboxylesterase activity, protein binding, GO:0044255, cellular lipid metabolic process, 22 20 43 41 16 27 36 14 47 ENSG00000168795 chr9 37438114 37465399 - ZBTB5 protein_coding 9925 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 163 158 219 172 115 219 169 66 112 ENSG00000168802 chr16 69118010 69132584 - CHTF8 protein_coding This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018]. 54921 GO:0031390, GO:0005634, Ctf18 RFC-like complex, nucleus, GO:0017116, GO:0003689, single-stranded DNA helicase activity, DNA clamp loader activity, GO:1900264, GO:0032508, GO:0007064, GO:0006260, positive regulation of DNA-directed DNA polymerase activity, DNA duplex unwinding, mitotic sister chromatid cohesion, DNA replication, 522 595 853 195 275 191 222 258 216 ENSG00000168803 chr15 43330657 43354555 + ADAL protein_coding 161823 GO:0005829, cytosol, GO:0046872, GO:0004000, metal ion binding, adenosine deaminase activity, GO:0046103, GO:0043101, GO:0017144, GO:0009117, GO:0006154, inosine biosynthetic process, purine-containing compound salvage, drug metabolic process, nucleotide metabolic process, adenosine catabolic process, 6 4 13 12 1 12 7 3 5 ENSG00000168806 chr15 43323649 43330605 - LCMT2 protein_coding The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). [provided by RefSeq, Jul 2008]. 9836 GO:0005737, cytoplasm, GO:0008175, GO:0008175, GO:0005515, tRNA methyltransferase activity, tRNA methyltransferase activity, protein binding, GO:0031591, GO:0030488, GO:0006400, wybutosine biosynthetic process, tRNA methylation, tRNA modification, 13 13 18 47 6 34 25 1 31 ENSG00000168807 chr16 69187129 69309052 + SNTB2 protein_coding Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]. 6645 GO:0045202, GO:0032991, GO:0030658, GO:0016020, GO:0016010, GO:0005925, GO:0005874, GO:0005737, GO:0005622, synapse, protein-containing complex, transport vesicle membrane, membrane, dystrophin-associated glycoprotein complex, focal adhesion, microtubule, cytoplasm, intracellular anatomical structure, GO:0005516, GO:0005515, GO:0005198, GO:0003779, GO:0003723, calmodulin binding, protein binding, structural molecule activity, actin binding, RNA binding, 165 128 354 134 186 283 168 134 190 ENSG00000168811 chr3 159988750 159996019 + IL12A protein_coding This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]. 3592 GO:0043514, GO:0043514, GO:0031906, GO:0009986, GO:0005788, GO:0005615, GO:0005576, interleukin-12 complex, interleukin-12 complex, late endosome lumen, cell surface, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0046982, GO:0045513, GO:0042163, GO:0008083, GO:0008083, GO:0005515, GO:0005143, GO:0005125, GO:0005125, protein heterodimerization activity, interleukin-27 binding, interleukin-12 beta subunit binding, growth factor activity, growth factor activity, protein binding, interleukin-12 receptor binding, cytokine activity, cytokine activity, GO:2000510, GO:1903588, GO:1900747, GO:0098586, GO:0097191, GO:0071222, GO:0070757, GO:0051135, GO:0050830, GO:0050709, GO:0050671, GO:0048662, GO:0045954, GO:0045785, GO:0045582, GO:0042832, GO:0042531, GO:0042102, GO:0035744, GO:0035722, GO:0035711, GO:0034393, GO:0032946, GO:0032816, GO:0032729, GO:0032700, GO:0032496, GO:0019221, GO:0016477, GO:0016032, GO:0010224, GO:0009615, GO:0008283, GO:0007050, GO:0006955, GO:0002860, GO:0001916, positive regulation of dendritic cell chemotaxis, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of vascular endothelial growth factor signaling pathway, cellular response to virus, extrinsic apoptotic signaling pathway, cellular response to lipopolysaccharide, interleukin-35-mediated signaling pathway, positive regulation of NK T cell activation, defense response to Gram-positive bacterium, negative regulation of protein secretion, positive regulation of lymphocyte proliferation, negative regulation of smooth muscle cell proliferation, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of cell adhesion, positive regulation of T cell differentiation, defense response to protozoan, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of T cell proliferation, T-helper 1 cell cytokine production, interleukin-12-mediated signaling pathway, T-helper 1 cell activation, positive regulation of smooth muscle cell apoptotic process, positive regulation of mononuclear cell proliferation, positive regulation of natural killer cell activation, positive regulation of interferon-gamma production, negative regulation of interleukin-17 production, response to lipopolysaccharide, cytokine-mediated signaling pathway, cell migration, viral process, response to UV-B, response to virus, cell population proliferation, cell cycle arrest, immune response, positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, positive regulation of T cell mediated cytotoxicity, 0 0 1 4 2 9 0 0 1 ENSG00000168813 chr19 32345594 32387667 + ZNF507 protein_coding 22847 GO:0005634, nucleus, GO:0046872, GO:0003677, metal ion binding, DNA binding, GO:0045944, GO:0010468, positive regulation of transcription by RNA polymerase II, regulation of gene expression, 110 105 138 170 136 252 161 139 192 ENSG00000168818 chr4 4415742 4542346 - STX18 protein_coding This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 53407 GO:0031201, GO:0016021, GO:0005789, GO:0005783, GO:0005783, GO:0000139, SNARE complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0019904, GO:0005515, GO:0005484, protein domain specific binding, protein binding, SNAP receptor activity, GO:1903358, GO:1902953, GO:1902117, GO:0090158, GO:0061025, GO:0006890, GO:0006890, GO:0006886, regulation of Golgi organization, positive regulation of ER to Golgi vesicle-mediated transport, positive regulation of organelle assembly, endoplasmic reticulum membrane organization, membrane fusion, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, 39 37 51 74 37 107 65 37 47 ENSG00000168824 chr4 4348140 4419058 + NSG1 protein_coding 27065 GO:0098978, GO:0098845, GO:0055038, GO:0045211, GO:0043202, GO:0036477, GO:0032588, GO:0032585, GO:0032580, GO:0031901, GO:0030659, GO:0030425, GO:0016328, GO:0016021, GO:0005789, GO:0005783, GO:0005770, GO:0005768, GO:0005768, GO:0005737, GO:0005634, glutamatergic synapse, postsynaptic endosome, recycling endosome membrane, postsynaptic membrane, lysosomal lumen, somatodendritic compartment, trans-Golgi network membrane, multivesicular body membrane, Golgi cisterna membrane, early endosome membrane, cytoplasmic vesicle membrane, dendrite, lateral plasma membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, late endosome, endosome, endosome, cytoplasm, nucleus, GO:0032051, GO:0005515, GO:0005102, clathrin light chain binding, protein binding, signaling receptor binding, GO:1900271, GO:0099630, GO:0099627, GO:0098887, GO:0098814, GO:0048268, GO:0042982, GO:0016197, GO:0007212, GO:0006915, GO:0001921, GO:0001881, regulation of long-term synaptic potentiation, postsynaptic neurotransmitter receptor cycle, neurotransmitter receptor cycle, neurotransmitter receptor transport, endosome to postsynaptic membrane, spontaneous synaptic transmission, clathrin coat assembly, amyloid precursor protein metabolic process, endosomal transport, dopamine receptor signaling pathway, apoptotic process, positive regulation of receptor recycling, receptor recycling, 9 5 5 36 27 4 22 35 5 ENSG00000168826 chr4 4290251 4321786 + ZBTB49 protein_coding 166793 GO:0015630, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, microtubule cytoskeleton, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0043565, GO:0008134, GO:0005515, GO:0001227, GO:0001223, GO:0000978, metal ion binding, sequence-specific DNA binding, transcription factor binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription coactivator binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0008285, GO:0007050, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, negative regulation of cell population proliferation, cell cycle arrest, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 86 87 103 65 75 85 74 36 66 ENSG00000168827 chr3 158644278 158692575 + GFM1 protein_coding Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]. 85476 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003746, GO:0003746, GO:0003723, GTP binding, protein binding, GTPase activity, GTPase activity, translation elongation factor activity, translation elongation factor activity, RNA binding, GO:0070125, GO:0070125, GO:0070125, mitochondrial translational elongation, mitochondrial translational elongation, mitochondrial translational elongation, 61 69 76 110 120 134 93 62 118 ENSG00000168828 chr9 35869263 35870601 - OR13J1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 392309 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000168830 chr6 86937306 87016683 + HTR1E protein_coding 3354 GO:0045202, GO:0030425, GO:0005887, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0051378, GO:0051378, GO:0030594, GO:0005515, GO:0004993, GO:0004993, GO:0004993, serotonin binding, serotonin binding, neurotransmitter receptor activity, protein binding, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, GO:0007268, GO:0007198, GO:0007193, GO:0007187, GO:0007186, chemical synaptic transmission, adenylate cyclase-inhibiting serotonin receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000168843 chr4 161383897 162164035 - FSTL5 protein_coding 56884 GO:0005576, extracellular region, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0030154, GO:0007275, cell differentiation, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000168852 chr13 40822296 40921749 - TPTE2P5 transcribed_unprocessed_pseudogene 0 0 0 0 0 1 0 1 1 ENSG00000168872 chr16 70346829 70373383 + DDX19A protein_coding 55308 GO:0016020, GO:0010494, GO:0005654, GO:0005634, membrane, cytoplasmic stress granule, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003674, ATP binding, protein binding, RNA helicase activity, RNA binding, molecular_function, GO:0016973, GO:0008150, poly(A)+ mRNA export from nucleus, biological_process, 31 41 55 130 116 134 131 90 83 ENSG00000168874 chr2 85751344 85788066 + ATOH8 protein_coding 84913 GO:0016607, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear speck, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0070888, GO:0046983, GO:0033613, GO:0003700, GO:0000981, GO:0000981, GO:0000978, E-box binding, protein dimerization activity, activating transcription factor binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902895, GO:0060395, GO:0051450, GO:0045893, GO:0045892, GO:0045603, GO:0045603, GO:0035148, GO:0030182, GO:0010629, GO:0010595, GO:0006357, GO:0001937, GO:0001704, positive regulation of pri-miRNA transcription by RNA polymerase II, SMAD protein signal transduction, myoblast proliferation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of endothelial cell differentiation, positive regulation of endothelial cell differentiation, tube formation, neuron differentiation, negative regulation of gene expression, positive regulation of endothelial cell migration, regulation of transcription by RNA polymerase II, negative regulation of endothelial cell proliferation, formation of primary germ layer, 2 5 5 0 6 0 3 4 2 ENSG00000168875 chr3 137764284 137766338 + SOX14 protein_coding This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]. 8403 GO:0005667, GO:0005575, GO:0000785, GO:0000785, transcription regulator complex, cellular_component, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003682, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001222, GO:0045892, GO:0030154, GO:0009653, GO:0009649, GO:0007601, GO:0007399, GO:0006355, GO:0000122, regulation of neuron migration, negative regulation of transcription, DNA-templated, cell differentiation, anatomical structure morphogenesis, entrainment of circadian clock, visual perception, nervous system development, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000168876 chr11 94493629 94499583 + ANKRD49 protein_coding 54851 GO:0005634, nucleus, GO:0005515, protein binding, GO:0045893, GO:0030154, GO:0007283, positive regulation of transcription, DNA-templated, cell differentiation, spermatogenesis, 426 250 414 205 211 281 263 206 251 ENSG00000168878 chr2 85657314 85668741 - SFTPB protein_coding This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]. 6439 GO:0097486, GO:0097208, GO:0045334, GO:0042599, GO:0005789, GO:0005771, GO:0005764, GO:0005654, GO:0005615, GO:0005576, multivesicular body lumen, alveolar lamellar body, clathrin-coated endocytic vesicle, lamellar body, endoplasmic reticulum membrane, multivesicular body, lysosome, nucleoplasm, extracellular space, extracellular region, GO:0005515, protein binding, GO:0044267, GO:0009887, GO:0007585, GO:0006665, cellular protein metabolic process, animal organ morphogenesis, respiratory gaseous exchange by respiratory system, sphingolipid metabolic process, 0 1 2 0 2 0 0 0 5 ENSG00000168883 chr2 85602856 85649282 + USP39 protein_coding 10713 GO:0046540, GO:0005681, GO:0005654, GO:0005654, GO:0005634, U4/U6 x U5 tri-snRNP complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0004843, zinc ion binding, protein binding, thiol-dependent ubiquitin-specific protease activity, GO:0051301, GO:0016579, GO:0008380, GO:0007049, GO:0006397, GO:0000398, GO:0000398, GO:0000245, cell division, protein deubiquitination, RNA splicing, cell cycle, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal complex assembly, 243 208 293 215 281 246 225 221 260 ENSG00000168884 chr4 2741648 2756376 - TNIP2 protein_coding This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]. 79155 GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, nucleoplasm, GO:0070530, GO:0046872, GO:0031593, GO:0031593, GO:0019901, GO:0005515, K63-linked polyubiquitin modification-dependent protein binding, metal ion binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, protein kinase binding, protein binding, GO:2000352, GO:0071222, GO:0070498, GO:0070498, GO:0051403, GO:0050871, GO:0050821, GO:0045944, GO:0045944, GO:0043123, GO:0043123, GO:0043032, GO:0034162, GO:0034138, GO:0034138, GO:0034134, GO:0034134, GO:0023035, GO:0016579, GO:0007249, GO:0006954, GO:0006915, negative regulation of endothelial cell apoptotic process, cellular response to lipopolysaccharide, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, stress-activated MAPK cascade, positive regulation of B cell activation, protein stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of macrophage activation, toll-like receptor 9 signaling pathway, toll-like receptor 3 signaling pathway, toll-like receptor 3 signaling pathway, toll-like receptor 2 signaling pathway, toll-like receptor 2 signaling pathway, CD40 signaling pathway, protein deubiquitination, I-kappaB kinase/NF-kappaB signaling, inflammatory response, apoptotic process, 345 263 389 306 362 401 348 295 340 ENSG00000168887 chr2 85606654 85612066 - C2orf68 protein_coding 388969 GO:0005515, protein binding, 478 463 463 269 490 355 335 402 403 ENSG00000168890 chr2 85598548 85603196 - TMEM150A protein_coding 129303 GO:0005887, GO:0005764, integral component of plasma membrane, lysosome, GO:0005515, protein binding, GO:0072659, GO:0046854, GO:0010506, GO:0009056, protein localization to plasma membrane, phosphatidylinositol phosphorylation, regulation of autophagy, catabolic process, 14 13 13 34 36 15 35 19 31 ENSG00000168894 chr2 85595725 85597613 + RNF181 protein_coding RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]. 51255 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0061630, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0051865, GO:0016567, GO:0016567, protein autoubiquitination, protein ubiquitination, protein ubiquitination, 150 136 160 104 141 105 109 143 140 ENSG00000168899 chr2 85584408 85593412 + VAMP5 protein_coding Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008]. 10791 GO:0070062, GO:0048471, GO:0031301, GO:0030659, GO:0014704, GO:0009986, GO:0005886, GO:0005794, GO:0005770, extracellular exosome, perinuclear region of cytoplasm, integral component of organelle membrane, cytoplasmic vesicle membrane, intercalated disc, cell surface, plasma membrane, Golgi apparatus, late endosome, GO:0005515, protein binding, GO:0043001, GO:0030154, GO:0007517, Golgi to plasma membrane protein transport, cell differentiation, muscle organ development, 36 32 41 24 33 91 30 52 29 ENSG00000168903 chr5 180988845 181006727 + BTNL3 protein_coding 10917 GO:0016021, GO:0009897, GO:0005575, integral component of membrane, external side of plasma membrane, cellular_component, GO:0005515, GO:0005102, GO:0003674, protein binding, signaling receptor binding, molecular_function, GO:0050852, GO:0008150, GO:0001817, T cell receptor signaling pathway, biological_process, regulation of cytokine production, 283 0 2 282 1 1 305 0 0 ENSG00000168904 chr15 99251362 99390729 + LRRC28 protein_coding 123355 61 52 84 47 55 71 63 43 76 ENSG00000168906 chr2 85539165 85545280 + MAT2A protein_coding The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]. 4144 GO:0048269, GO:0048269, GO:0005829, GO:0005829, methionine adenosyltransferase complex, methionine adenosyltransferase complex, cytosol, cytosol, GO:0046872, GO:0042802, GO:0005524, GO:0005515, GO:0004478, GO:0004478, metal ion binding, identical protein binding, ATP binding, protein binding, methionine adenosyltransferase activity, methionine adenosyltransferase activity, GO:1990830, GO:0051291, GO:0034214, GO:0032259, GO:0006730, GO:0006556, GO:0006556, GO:0006556, cellular response to leukemia inhibitory factor, protein heterooligomerization, protein hexamerization, methylation, one-carbon metabolic process, S-adenosylmethionine biosynthetic process, S-adenosylmethionine biosynthetic process, S-adenosylmethionine biosynthetic process, 269 444 497 1909 3214 2248 1588 1623 1551 ENSG00000168907 chr15 42139034 42156636 - PLA2G4F protein_coding 255189 GO:0032587, GO:0031982, GO:0005829, GO:0005829, GO:0005739, ruffle membrane, vesicle, cytosol, cytosol, mitochondrion, GO:0102568, GO:0102567, GO:0047498, GO:0005544, GO:0005509, GO:0004623, GO:0004622, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, calcium-dependent phospholipid binding, calcium ion binding, phospholipase A2 activity, lysophospholipase activity, GO:0071407, GO:0071236, GO:0050482, GO:0046475, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0006644, GO:0001516, cellular response to organic cyclic compound, cellular response to antibiotic, arachidonic acid secretion, glycerophospholipid catabolic process, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, phospholipid metabolic process, prostaglandin biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000168913 chr9 34521040 34523041 - ENHO protein_coding 375704 GO:0005886, GO:0005576, plasma membrane, extracellular region, GO:0045747, positive regulation of Notch signaling pathway, 0 0 0 0 2 4 1 0 0 ENSG00000168916 chr5 124636913 124748807 - ZNF608 protein_coding 57507 GO:0005634, nucleus, GO:0046872, metal ion binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 14 23 15 3 15 8 19 7 11 ENSG00000168917 chr3 136818647 136855892 + SLC35G2 protein_coding 80723 GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005794, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0005515, protein binding, 4 3 4 1 0 7 7 0 1 ENSG00000168918 chr2 233059967 233207903 + INPP5D protein_coding This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Deficiencies in the encoded protein, SHIP1, have been associated with Inflammatory Bowel Disease types such as Crohn's Disease and Ulcerative Colitis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]. 3635 GO:0045121, GO:0005886, GO:0005856, GO:0005829, GO:0005829, membrane raft, plasma membrane, cytoskeleton, cytosol, cytosol, GO:0052659, GO:0052658, GO:0017124, GO:0016314, GO:0005515, GO:0004445, GO:0004439, inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity, inositol-1,4,5-trisphosphate 5-phosphatase activity, SH3 domain binding, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity, protein binding, inositol-polyphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, GO:0050900, GO:0050852, GO:0050777, GO:0046856, GO:0045779, GO:0045671, GO:0045659, GO:0045656, GO:0045648, GO:0045579, GO:0043647, GO:0043065, GO:0035556, GO:0032715, GO:0030889, GO:0019221, GO:0016064, GO:0009968, GO:0008340, GO:0007165, GO:0006915, GO:0006796, GO:0006661, leukocyte migration, T cell receptor signaling pathway, negative regulation of immune response, phosphatidylinositol dephosphorylation, negative regulation of bone resorption, negative regulation of osteoclast differentiation, negative regulation of neutrophil differentiation, negative regulation of monocyte differentiation, positive regulation of erythrocyte differentiation, positive regulation of B cell differentiation, inositol phosphate metabolic process, positive regulation of apoptotic process, intracellular signal transduction, negative regulation of interleukin-6 production, negative regulation of B cell proliferation, cytokine-mediated signaling pathway, immunoglobulin mediated immune response, negative regulation of signal transduction, determination of adult lifespan, signal transduction, apoptotic process, phosphate-containing compound metabolic process, phosphatidylinositol biosynthetic process, 4159 5148 5665 3372 5366 4548 3621 3937 4020 ENSG00000168924 chr4 1811479 1856247 - LETM1 protein_coding This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]. 3954 GO:0016021, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0043022, GO:0015369, GO:0005515, GO:0005509, ribosome binding, calcium:proton antiporter activity, protein binding, calcium ion binding, GO:1900069, GO:0099093, GO:0051562, GO:0051560, GO:0051260, GO:0042407, GO:0034214, GO:0006875, GO:0006851, regulation of cellular hyperosmotic salinity response, calcium export from the mitochondrion, negative regulation of mitochondrial calcium ion concentration, mitochondrial calcium ion homeostasis, protein homooligomerization, cristae formation, protein hexamerization, cellular metal ion homeostasis, mitochondrial calcium ion transmembrane transport, 30 24 53 53 28 54 21 29 80 ENSG00000168925 chr16 75219000 75226338 + CTRB1 protein_coding This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This gene is located adjacent to a related chymotrypsinogen gene. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]. 1504 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0004252, GO:0004252, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0022617, GO:0009235, GO:0007586, GO:0006508, extracellular matrix disassembly, cobalamin metabolic process, digestion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000168928 chr16 75204096 75207185 - CTRB2 protein_coding 440387 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0022617, GO:0009235, GO:0007586, GO:0006508, extracellular matrix disassembly, cobalamin metabolic process, digestion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000168930 chr11 89797655 89808575 - TRIM49 protein_coding The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. Related pseudogenes and gene duplicates have also been identified on chromosome 11. [provided by RefSeq, Aug 2010]. 57093 GO:0005737, cytoplasm, GO:0061630, GO:0019901, GO:0008270, GO:0005515, ubiquitin protein ligase activity, protein kinase binding, zinc ion binding, protein binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000168936 chr4 1715952 1721358 - TMEM129 protein_coding 92305 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0061630, GO:0061630, GO:0061630, GO:0046872, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, GO:0030970, GO:0030433, GO:0016567, GO:0006986, GO:0000209, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, protein ubiquitination, response to unfolded protein, protein polyubiquitination, 56 83 85 43 42 43 48 45 65 ENSG00000168938 chr5 123023250 123036741 - PPIC protein_coding The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]. 5480 GO:0070062, GO:0043231, GO:0005737, extracellular exosome, intracellular membrane-bounded organelle, cytoplasm, GO:0016018, GO:0016018, GO:0005515, GO:0003755, GO:0003755, cyclosporin A binding, cyclosporin A binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, 0 0 0 0 0 0 0 0 0 ENSG00000168939 chrX 155767812 155782459 + SPRY3 protein_coding 10251 GO:0016020, GO:0005829, membrane, cytosol, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0061564, GO:0048513, GO:0046580, GO:0043407, GO:0040037, GO:0007275, axon development, animal organ development, negative regulation of Ras protein signal transduction, negative regulation of MAP kinase activity, negative regulation of fibroblast growth factor receptor signaling pathway, multicellular organism development, 6 4 2 3 2 1 3 4 2 ENSG00000168944 chr5 123344885 123423592 - CEP120 protein_coding This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 153241 GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005737, centriole, centriole, centrosome, centrosome, cytoplasm, GO:0008022, GO:0005515, protein C-terminus binding, protein binding, GO:1904951, GO:1903724, GO:1903724, GO:0045724, GO:0030953, GO:0022027, GO:0021987, GO:0010825, GO:0007098, GO:0007098, positive regulation of establishment of protein localization, positive regulation of centriole elongation, positive regulation of centriole elongation, positive regulation of cilium assembly, astral microtubule organization, interkinetic nuclear migration, cerebral cortex development, positive regulation of centrosome duplication, centrosome cycle, centrosome cycle, 226 233 328 280 224 303 232 190 253 ENSG00000168952 chr14 24809656 25050297 - STXBP6 protein_coding STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]. 29091 GO:0016021, GO:0005912, GO:0005886, GO:0000145, integral component of membrane, adherens junction, plasma membrane, exocyst, GO:0098641, GO:0031267, GO:0005546, cadherin binding involved in cell-cell adhesion, small GTPase binding, phosphatidylinositol-4,5-bisphosphate binding, GO:0098609, GO:0051601, GO:0045920, GO:0035542, GO:0006893, GO:0006887, cell-cell adhesion, exocyst localization, negative regulation of exocytosis, regulation of SNARE complex assembly, Golgi to plasma membrane transport, exocytosis, 0 0 0 2 1 0 0 0 3 ENSG00000168955 chr2 227362156 227381995 - TM4SF20 protein_coding The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [provided by RefSeq, Jul 2016]. 79853 GO:0016021, GO:0005925, GO:0005886, GO:0005789, integral component of membrane, focal adhesion, plasma membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0045861, negative regulation of proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000168958 chr2 227325151 227357836 + MFF protein_coding This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. 56947 GO:0032991, GO:0032592, GO:0031307, GO:0008021, GO:0005777, GO:0005777, GO:0005741, GO:0005739, protein-containing complex, integral component of mitochondrial membrane, integral component of mitochondrial outer membrane, synaptic vesicle, peroxisome, peroxisome, mitochondrial outer membrane, mitochondrion, GO:0042803, GO:0042802, GO:0005515, protein homodimerization activity, identical protein binding, protein binding, GO:1900063, GO:0090314, GO:0090200, GO:0090141, GO:0090141, GO:0070584, GO:0043653, GO:0016559, GO:0010821, GO:0008053, GO:0006626, GO:0006626, GO:0006626, GO:0001836, GO:0000266, regulation of peroxisome organization, positive regulation of protein targeting to membrane, positive regulation of release of cytochrome c from mitochondria, positive regulation of mitochondrial fission, positive regulation of mitochondrial fission, mitochondrion morphogenesis, mitochondrial fragmentation involved in apoptotic process, peroxisome fission, regulation of mitochondrion organization, mitochondrial fusion, protein targeting to mitochondrion, protein targeting to mitochondrion, protein targeting to mitochondrion, release of cytochrome c from mitochondria, mitochondrial fission, 244 201 253 168 234 187 167 200 169 ENSG00000168959 chr11 88504576 89065945 - GRM5 protein_coding This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 2915 GO:0098839, GO:0043005, GO:0005887, GO:0005887, GO:0005886, GO:0005737, postsynaptic density membrane, neuron projection, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:1990782, GO:0099583, GO:0099530, GO:0042802, GO:0030296, GO:0008066, GO:0008066, GO:0005515, GO:0004930, protein tyrosine kinase binding, neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration, G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential, identical protein binding, protein tyrosine kinase activator activity, glutamate receptor activity, glutamate receptor activity, protein binding, G protein-coupled receptor activity, GO:1904646, GO:1904646, GO:1902938, GO:0099566, GO:0099553, GO:0090647, GO:0061098, GO:0060078, GO:0051966, GO:0050890, GO:0050808, GO:0048169, GO:0035584, GO:0007626, GO:0007612, GO:0007611, GO:0007268, GO:0007216, GO:0007216, GO:0007206, GO:0007186, GO:0006448, GO:0006417, GO:0001932, cellular response to amyloid-beta, cellular response to amyloid-beta, regulation of intracellular calcium activated chloride channel activity, regulation of postsynaptic cytosolic calcium ion concentration, trans-synaptic signaling by endocannabinoid, modulating synaptic transmission, modulation of age-related behavioral decline, positive regulation of protein tyrosine kinase activity, regulation of postsynaptic membrane potential, regulation of synaptic transmission, glutamatergic, cognition, synapse organization, regulation of long-term neuronal synaptic plasticity, calcium-mediated signaling using intracellular calcium source, locomotory behavior, learning, learning or memory, chemical synaptic transmission, G protein-coupled glutamate receptor signaling pathway, G protein-coupled glutamate receptor signaling pathway, phospholipase C-activating G protein-coupled glutamate receptor signaling pathway, G protein-coupled receptor signaling pathway, regulation of translational elongation, regulation of translation, regulation of protein phosphorylation, 0 0 0 0 0 0 0 1 0 ENSG00000168961 chr17 27629798 27649560 + LGALS9 protein_coding The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin's disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 3965 GO:0062023, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, GO:0005615, collagen-containing extracellular matrix, cytosol, cytosol, cytoplasm, nucleus, nucleus, extracellular space, GO:0048030, GO:0030246, GO:0030246, GO:0019899, GO:0016936, GO:0005534, disaccharide binding, carbohydrate binding, carbohydrate binding, enzyme binding, galactoside binding, galactose binding, GO:2001269, GO:2001200, GO:2001190, GO:2000670, GO:2000563, GO:2000562, GO:2000562, GO:2000510, GO:1901224, GO:1900744, GO:0098586, GO:0097029, GO:0071639, GO:0071636, GO:0071346, GO:0070555, GO:0070374, GO:0070371, GO:0070241, GO:0060135, GO:0051092, GO:0046598, GO:0046007, GO:0045953, GO:0043305, GO:0043123, GO:0038066, GO:0034142, GO:0034134, GO:0032834, GO:0032760, GO:0032757, GO:0032755, GO:0032753, GO:0032753, GO:0032736, GO:0032735, GO:0032733, GO:0032731, GO:0032729, GO:0032720, GO:0032689, GO:0032689, GO:0032682, GO:0032674, GO:0032673, GO:0032496, GO:0010629, GO:0010629, GO:0010628, GO:0010628, GO:0007565, GO:0006954, GO:0006935, GO:0002519, positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, positive regulation of dendritic cell differentiation, positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, positive regulation of dendritic cell apoptotic process, positive regulation of CD4-positive, alpha-beta T cell proliferation, negative regulation of CD4-positive, alpha-beta T cell proliferation, negative regulation of CD4-positive, alpha-beta T cell proliferation, positive regulation of dendritic cell chemotaxis, positive regulation of NIK/NF-kappaB signaling, regulation of p38MAPK cascade, cellular response to virus, mature conventional dendritic cell differentiation, positive regulation of monocyte chemotactic protein-1 production, positive regulation of transforming growth factor beta production, cellular response to interferon-gamma, response to interleukin-1, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, positive regulation of activated T cell autonomous cell death, maternal process involved in female pregnancy, positive regulation of NF-kappaB transcription factor activity, positive regulation of viral entry into host cell, negative regulation of activated T cell proliferation, negative regulation of natural killer cell mediated cytotoxicity, negative regulation of mast cell degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, p38MAPK cascade, toll-like receptor 4 signaling pathway, toll-like receptor 2 signaling pathway, positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-4 production, positive regulation of interleukin-4 production, positive regulation of interleukin-13 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, negative regulation of tumor necrosis factor production, negative regulation of interferon-gamma production, negative regulation of interferon-gamma production, negative regulation of chemokine production, regulation of interleukin-5 production, regulation of interleukin-4 production, response to lipopolysaccharide, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, female pregnancy, inflammatory response, chemotaxis, natural killer cell tolerance induction, 881 501 267 736 603 247 871 474 202 ENSG00000168967 chr5 22142352 22152356 + PMCHL1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000168970 chr15 41828095 41848155 + JMJD7-PLA2G4B protein_coding This locus represents naturally-occurring readthrough transcription between the neighboring jumonji domain containing 7 (JMJD7) and phospholipase A2, group IVB (cytosolic) (PLA2G4B) genes. Readthrough transcripts encode fusion proteins that share amino acid sequence with each individual gene product, including a partial JmjC domain and downstream C2 and phospholipase A2 domains. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Oct 2013]. 8681 35 35 73 56 62 60 62 50 36 ENSG00000168992 chr2 95546531 95547545 + OR7E102P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000168993 chr4 784957 826198 - CPLX1 protein_coding Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]. 10815 GO:0098794, GO:0070554, GO:0070032, GO:0044305, GO:0043204, GO:0043195, GO:0031201, GO:0030425, GO:0005829, postsynapse, synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex, synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex, calyx of Held, perikaryon, terminal bouton, SNARE complex, dendrite, cytosol, GO:0017075, GO:0005515, GO:0005326, GO:0000149, syntaxin-1 binding, protein binding, neurotransmitter transmembrane transporter activity, SNARE binding, GO:0046928, GO:0030073, GO:0017157, GO:0016079, GO:0014047, GO:0007269, GO:0007268, GO:0006887, regulation of neurotransmitter secretion, insulin secretion, regulation of exocytosis, synaptic vesicle exocytosis, glutamate secretion, neurotransmitter secretion, chemical synaptic transmission, exocytosis, 0 0 1 0 0 0 4 0 0 ENSG00000168994 chr6 3722614 3752026 - PXDC1 protein_coding 221749 GO:0035091, phosphatidylinositol binding, 12 8 27 6 19 32 6 14 22 ENSG00000168995 chr19 51142299 51153526 + SIGLEC7 protein_coding 27036 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0033691, GO:0030246, GO:0005515, signaling receptor activity, sialic acid binding, carbohydrate binding, protein binding, GO:0050776, GO:0007155, regulation of immune response, cell adhesion, 310 466 393 96 315 187 140 279 115 ENSG00000169006 chr2 11658178 11670164 - NTSR2 protein_coding The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq, Jul 2008]. 23620 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0016492, GO:0004930, G protein-coupled neurotensin receptor activity, G protein-coupled receptor activity, GO:0042391, GO:0007600, GO:0007218, GO:0007200, GO:0007186, GO:0007166, regulation of membrane potential, sensory perception, neuropeptide signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169016 chr2 11444375 11466177 - E2F6 protein_coding This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 1876 GO:0090575, GO:0090575, GO:0071339, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, MLL1 complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0046983, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein dimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0070317, GO:0006357, GO:0000122, GO:0000083, negative regulation of G0 to G1 transition, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, 12 7 31 29 34 37 21 15 23 ENSG00000169018 chr15 68277803 68295865 + FEM1B protein_coding This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]. 10116 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0005123, GO:0005123, protein binding, death receptor binding, death receptor binding, GO:2000001, GO:1902041, GO:0051438, GO:0043687, GO:0016567, GO:0006915, regulation of DNA damage checkpoint, regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of ubiquitin-protein transferase activity, post-translational protein modification, protein ubiquitination, apoptotic process, 173 174 239 166 139 198 134 107 135 ENSG00000169019 chr4 47450796 47463719 - COMMD8 protein_coding The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016]. 54951 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0005515, protein binding, 114 95 103 38 71 81 58 78 50 ENSG00000169020 chr4 672436 674338 - ATP5ME protein_coding Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]. 521 GO:0005753, GO:0005753, GO:0005743, GO:0005739, GO:0000276, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, GO:0044877, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, protein-containing complex binding, protein binding, GO:0042776, GO:0042776, GO:0042407, GO:0006754, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP biosynthetic process, 88 67 107 69 117 87 73 113 86 ENSG00000169021 chr19 29205321 29213541 - UQCRFS1 protein_coding 7386 GO:0016021, GO:0005751, GO:0005750, GO:0005750, GO:0005750, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex III, mitochondrial respiratory chain complex III, mitochondrial respiratory chain complex III, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0051537, GO:0046872, GO:0016491, GO:0008121, GO:0005515, 2 iron, 2 sulfur cluster binding, metal ion binding, oxidoreductase activity, ubiquinol-cytochrome-c reductase activity, protein binding, GO:0034551, GO:0022904, GO:0006122, GO:0006122, mitochondrial respiratory chain complex III assembly, respiratory electron transport chain, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, 174 261 234 172 241 155 136 183 134 ENSG00000169026 chr4 681829 689441 - SLC49A3 protein_coding 84179 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, transmembrane transport, 79 78 90 47 92 71 54 96 67 ENSG00000169031 chr2 227164565 227314792 + COL4A3 protein_coding Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]. 1285 GO:0062023, GO:0043231, GO:0031012, GO:0005788, GO:0005783, GO:0005615, GO:0005604, GO:0005604, GO:0005587, GO:0005576, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, extracellular matrix, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, basement membrane, basement membrane, collagen type IV trimer, extracellular region, GO:0030020, GO:0030020, GO:0008191, GO:0005515, GO:0005201, GO:0005198, GO:0005178, GO:0005178, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, metalloendopeptidase inhibitor activity, protein binding, extracellular matrix structural constituent, structural molecule activity, integrin binding, integrin binding, GO:1905563, GO:0072577, GO:0038063, GO:0032836, GO:0030198, GO:0030198, GO:0016525, GO:0010951, GO:0009749, GO:0008285, GO:0008015, GO:0007605, GO:0007166, GO:0007155, GO:0006919, negative regulation of vascular endothelial cell proliferation, endothelial cell apoptotic process, collagen-activated tyrosine kinase receptor signaling pathway, glomerular basement membrane development, extracellular matrix organization, extracellular matrix organization, negative regulation of angiogenesis, negative regulation of endopeptidase activity, response to glucose, negative regulation of cell population proliferation, blood circulation, sensory perception of sound, cell surface receptor signaling pathway, cell adhesion, activation of cysteine-type endopeptidase activity involved in apoptotic process, 1 3 3 9 2 12 6 8 1 ENSG00000169032 chr15 66386817 66492312 + MAP2K1 protein_coding The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]. 5604 GO:0005925, GO:0005886, GO:0005829, GO:0005829, GO:0005815, GO:0005794, GO:0005783, GO:0005770, GO:0005769, GO:0005739, GO:0005634, focal adhesion, plasma membrane, cytosol, cytosol, microtubule organizing center, Golgi apparatus, endoplasmic reticulum, late endosome, early endosome, mitochondrion, nucleus, GO:0097110, GO:0047485, GO:0043539, GO:0008022, GO:0005524, GO:0005515, GO:0005078, GO:0004713, GO:0004712, GO:0004708, GO:0004708, GO:0004674, GO:0004674, GO:0004672, scaffold protein binding, protein N-terminus binding, protein serine/threonine kinase activator activity, protein C-terminus binding, ATP binding, protein binding, MAP-kinase scaffold activity, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, MAP kinase kinase activity, MAP kinase kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000641, GO:1903800, GO:0090398, GO:0090170, GO:0071902, GO:0070374, GO:0070371, GO:0060711, GO:0060674, GO:0060502, GO:0060440, GO:0060324, GO:0060020, GO:0050772, GO:0048870, GO:0048679, GO:0048538, GO:0045893, GO:0032872, GO:0030878, GO:0030216, GO:0030182, GO:0021697, GO:0018108, GO:0018107, GO:0010629, GO:0010628, GO:0008285, GO:0007507, GO:0007165, GO:0007050, GO:0006935, GO:0006468, GO:0000187, GO:0000187, GO:0000187, GO:0000165, regulation of early endosome to late endosome transport, positive regulation of production of miRNAs involved in gene silencing by miRNA, cellular senescence, regulation of Golgi inheritance, positive regulation of protein serine/threonine kinase activity, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, labyrinthine layer development, placenta blood vessel development, epithelial cell proliferation involved in lung morphogenesis, trachea formation, face development, Bergmann glial cell differentiation, positive regulation of axonogenesis, cell motility, regulation of axon regeneration, thymus development, positive regulation of transcription, DNA-templated, regulation of stress-activated MAPK cascade, thyroid gland development, keratinocyte differentiation, neuron differentiation, cerebellar cortex formation, peptidyl-tyrosine phosphorylation, peptidyl-threonine phosphorylation, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cell population proliferation, heart development, signal transduction, cell cycle arrest, chemotaxis, protein phosphorylation, activation of MAPK activity, activation of MAPK activity, activation of MAPK activity, MAPK cascade, 380 371 556 281 278 322 210 234 183 ENSG00000169035 chr19 50976482 50984099 - KLK7 protein_coding This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011]. 5650 GO:0097209, GO:0030141, GO:0005615, GO:0005576, epidermal lamellar body, secretory granule, extracellular space, extracellular region, GO:0008236, GO:0008233, GO:0004252, serine-type peptidase activity, peptidase activity, serine-type endopeptidase activity, GO:0022617, GO:0008544, GO:0006508, GO:0002803, GO:0002803, extracellular matrix disassembly, epidermis development, proteolysis, positive regulation of antibacterial peptide production, positive regulation of antibacterial peptide production, 0 0 0 0 0 0 0 0 0 ENSG00000169040 chr5 71375786 71385993 + PMCHL2 transcribed_unprocessed_pseudogene 5370 GO:0045202, GO:0005575, synapse, cellular_component, GO:0031777, GO:0030354, GO:0003674, type 1 melanin-concentrating hormone receptor binding, melanin-concentrating hormone activity, molecular_function, GO:0008150, GO:0007610, GO:0007268, GO:0007165, biological_process, behavior, chemical synaptic transmission, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000169045 chr5 179614178 179634784 - HNRNPH1 protein_coding This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]. 3187 GO:1990904, GO:0071013, GO:0016020, GO:0005829, GO:0005654, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, catalytic step 2 spliceosome, membrane, cytosol, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0008266, GO:0005515, GO:0003723, GO:0003723, GO:0003723, identical protein binding, poly(U) RNA binding, protein binding, RNA binding, RNA binding, RNA binding, GO:0043484, GO:0043484, GO:0016070, GO:0008543, GO:0006396, GO:0000398, GO:0000398, regulation of RNA splicing, regulation of RNA splicing, RNA metabolic process, fibroblast growth factor receptor signaling pathway, RNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 2942 3021 4311 9040 9130 10922 7881 4928 7112 ENSG00000169047 chr2 226731317 226799759 - IRS1 protein_coding This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]. 3667 GO:0043231, GO:0005901, GO:0005899, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, caveola, insulin receptor complex, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0043548, GO:0043548, GO:0043548, GO:0042169, GO:0030159, GO:0005515, GO:0005159, GO:0005158, GO:0005158, GO:0005080, GO:0005068, GO:0001784, phosphatidylinositol 3-kinase binding, phosphatidylinositol 3-kinase binding, phosphatidylinositol 3-kinase binding, SH2 domain binding, signaling receptor complex adaptor activity, protein binding, insulin-like growth factor receptor binding, insulin receptor binding, insulin receptor binding, protein kinase C binding, transmembrane receptor protein tyrosine kinase adaptor activity, phosphotyrosine residue binding, GO:0071398, GO:0051897, GO:0048015, GO:0048009, GO:0046676, GO:0046628, GO:0046628, GO:0046627, GO:0046326, GO:0046326, GO:0045725, GO:0045725, GO:0043552, GO:0043434, GO:0042593, GO:0038111, GO:0032869, GO:0032868, GO:0032000, GO:0014065, GO:0010907, GO:0008286, GO:0008286, GO:0008286, GO:0008286, GO:0008284, GO:0007165, GO:0000165, cellular response to fatty acid, positive regulation of protein kinase B signaling, phosphatidylinositol-mediated signaling, insulin-like growth factor receptor signaling pathway, negative regulation of insulin secretion, positive regulation of insulin receptor signaling pathway, positive regulation of insulin receptor signaling pathway, negative regulation of insulin receptor signaling pathway, positive regulation of glucose import, positive regulation of glucose import, positive regulation of glycogen biosynthetic process, positive regulation of glycogen biosynthetic process, positive regulation of phosphatidylinositol 3-kinase activity, response to peptide hormone, glucose homeostasis, interleukin-7-mediated signaling pathway, cellular response to insulin stimulus, response to insulin, positive regulation of fatty acid beta-oxidation, phosphatidylinositol 3-kinase signaling, positive regulation of glucose metabolic process, insulin receptor signaling pathway, insulin receptor signaling pathway, insulin receptor signaling pathway, insulin receptor signaling pathway, positive regulation of cell population proliferation, signal transduction, MAPK cascade, 4 5 2 9 3 3 2 0 3 ENSG00000169057 chrX 154021573 154137103 - MECP2 protein_coding DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]. 4204 GO:0098794, GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0000792, GO:0000792, postsynapse, centrosome, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular space, heterochromatin, heterochromatin, GO:0047485, GO:0019904, GO:0010385, GO:0010385, GO:0008327, GO:0005515, GO:0003723, GO:0003714, GO:0003682, GO:0003677, protein N-terminus binding, protein domain specific binding, double-stranded methylated DNA binding, double-stranded methylated DNA binding, methyl-CpG binding, protein binding, RNA binding, transcription corepressor activity, chromatin binding, DNA binding, GO:1905643, GO:0090063, GO:0045892, GO:0043537, GO:0016525, GO:0010971, GO:0010629, GO:0008284, GO:0007052, GO:0006367, GO:0006349, GO:0000122, positive regulation of DNA methylation, positive regulation of microtubule nucleation, negative regulation of transcription, DNA-templated, negative regulation of blood vessel endothelial cell migration, negative regulation of angiogenesis, positive regulation of G2/M transition of mitotic cell cycle, negative regulation of gene expression, positive regulation of cell population proliferation, mitotic spindle organization, transcription initiation from RNA polymerase II promoter, regulation of gene expression by genetic imprinting, negative regulation of transcription by RNA polymerase II, 1625 1757 2006 1394 1868 1606 1431 1365 1308 ENSG00000169059 chrX 6533618 6535118 - VCX3A protein_coding This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]. 51481 GO:0005730, GO:0005634, nucleolus, nucleus, GO:0007420, GO:0007420, brain development, brain development, 0 0 0 0 0 0 0 0 0 ENSG00000169062 chr13 114281584 114305817 + UPF3A protein_coding This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 65110 GO:0043231, GO:0035145, GO:0035145, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, exon-exon junction complex, exon-exon junction complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0042162, GO:0042162, GO:0017056, GO:0005515, GO:0003723, telomeric DNA binding, telomeric DNA binding, structural constituent of nuclear pore, protein binding, RNA binding, GO:0051028, GO:0045727, GO:0045727, GO:0006913, GO:0000184, GO:0000184, GO:0000184, mRNA transport, positive regulation of translation, positive regulation of translation, nucleocytoplasmic transport, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 88 87 107 147 98 195 115 55 139 ENSG00000169064 chr3 167240287 167381346 - ZBBX protein_coding 79740 GO:0031514, motile cilium, GO:0046872, metal ion binding, GO:0003341, cilium movement, 0 0 0 0 0 0 0 0 0 ENSG00000169067 chr5 57480016 57482809 - ACTBL2 protein_coding 345651 GO:0098978, GO:0070062, GO:0045202, GO:0035267, GO:0030424, GO:0016020, GO:0005884, GO:0005737, GO:0005615, glutamatergic synapse, extracellular exosome, synapse, NuA4 histone acetyltransferase complex, axon, membrane, actin filament, cytoplasm, extracellular space, GO:0098973, GO:0019901, GO:0005524, GO:0005515, GO:0003674, structural constituent of postsynaptic actin cytoskeleton, protein kinase binding, ATP binding, protein binding, molecular_function, GO:0098974, GO:0048870, GO:0008150, GO:0007409, postsynaptic actin cytoskeleton organization, cell motility, biological_process, axonogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000169071 chr9 91563091 91950162 - ROR2 protein_coding The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]. 4920 GO:0043235, GO:0043025, GO:0030669, GO:0030425, GO:0009986, GO:0005887, GO:0005886, GO:0005874, receptor complex, neuronal cell body, clathrin-coated endocytic vesicle membrane, dendrite, cell surface, integral component of plasma membrane, plasma membrane, microtubule, GO:1904929, GO:0046872, GO:0031435, GO:0017147, GO:0017147, GO:0005524, GO:0005515, GO:0004714, coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway, metal ion binding, mitogen-activated protein kinase kinase kinase binding, Wnt-protein binding, Wnt-protein binding, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, GO:1905517, GO:1900020, GO:0070374, GO:0060071, GO:0051968, GO:0045651, GO:0043507, GO:0043410, GO:0033674, GO:0030539, GO:0030335, GO:0030282, GO:0018108, GO:0014068, GO:0014002, GO:0010976, GO:0008285, GO:0007275, GO:0007169, GO:0007165, macrophage migration, positive regulation of protein kinase C activity, positive regulation of ERK1 and ERK2 cascade, Wnt signaling pathway, planar cell polarity pathway, positive regulation of synaptic transmission, glutamatergic, positive regulation of macrophage differentiation, positive regulation of JUN kinase activity, positive regulation of MAPK cascade, positive regulation of kinase activity, male genitalia development, positive regulation of cell migration, bone mineralization, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, astrocyte development, positive regulation of neuron projection development, negative regulation of cell population proliferation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, 0 3 2 0 0 17 6 0 0 ENSG00000169075 chr6 118501430 118502906 + Z99496.1 processed_pseudogene 4 12 5 1 12 7 7 2 4 ENSG00000169083 chrX 67544032 67730619 + AR protein_coding The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]. 367 GO:0032991, GO:0016607, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, protein-containing complex, nuclear speck, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0070974, GO:0051117, GO:0019899, GO:0008270, GO:0008134, GO:0008013, GO:0008013, GO:0008013, GO:0005515, GO:0005497, GO:0005496, GO:0005102, GO:0004879, GO:0004879, GO:0004879, GO:0004879, GO:0003700, GO:0003682, GO:0001228, GO:0001225, GO:0001225, GO:0001091, GO:0001085, GO:0000981, GO:0000978, GO:0000978, GO:0000976, POU domain binding, ATPase binding, enzyme binding, zinc ion binding, transcription factor binding, beta-catenin binding, beta-catenin binding, beta-catenin binding, protein binding, androgen binding, steroid binding, signaling receptor binding, nuclear receptor activity, nuclear receptor activity, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II transcription coactivator binding, RNA polymerase II transcription coactivator binding, RNA polymerase II general transcription initiation factor binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001237, GO:1903076, GO:0072520, GO:0071394, GO:0071391, GO:0071383, GO:0060769, GO:0060749, GO:0060748, GO:0060742, GO:0060740, GO:0060736, GO:0060599, GO:0060571, GO:0060520, GO:0051092, GO:0050680, GO:0048808, GO:0048645, GO:0048638, GO:0045945, GO:0045944, GO:0045944, GO:0045893, GO:0045726, GO:0045720, GO:0045597, GO:0043568, GO:0043410, GO:0042327, GO:0035264, GO:0033327, GO:0033148, GO:0030522, GO:0030521, GO:0030520, GO:0030518, GO:0019102, GO:0016579, GO:0010628, GO:0010628, GO:0008584, GO:0008285, GO:0008284, GO:0007338, GO:0007283, GO:0007267, GO:0007165, GO:0006367, GO:0006357, GO:0003382, GO:0003073, GO:0001701, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway, regulation of protein localization to plasma membrane, seminiferous tubule development, cellular response to testosterone stimulus, cellular response to estrogen stimulus, cellular response to steroid hormone stimulus, positive regulation of epithelial cell proliferation involved in prostate gland development, mammary gland alveolus development, tertiary branching involved in mammary gland duct morphogenesis, epithelial cell differentiation involved in prostate gland development, prostate gland epithelium morphogenesis, prostate gland growth, lateral sprouting involved in mammary gland duct morphogenesis, morphogenesis of an epithelial fold, activation of prostate induction by androgen receptor signaling pathway, positive regulation of NF-kappaB transcription factor activity, negative regulation of epithelial cell proliferation, male genitalia morphogenesis, animal organ formation, regulation of developmental growth, positive regulation of transcription by RNA polymerase III, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of integrin biosynthetic process, negative regulation of integrin biosynthetic process, positive regulation of cell differentiation, positive regulation of insulin-like growth factor receptor signaling pathway, positive regulation of MAPK cascade, positive regulation of phosphorylation, multicellular organism growth, Leydig cell differentiation, positive regulation of intracellular estrogen receptor signaling pathway, intracellular receptor signaling pathway, androgen receptor signaling pathway, intracellular estrogen receptor signaling pathway, intracellular steroid hormone receptor signaling pathway, male somatic sex determination, protein deubiquitination, positive regulation of gene expression, positive regulation of gene expression, male gonad development, negative regulation of cell population proliferation, positive regulation of cell population proliferation, single fertilization, spermatogenesis, cell-cell signaling, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, epithelial cell morphogenesis, regulation of systemic arterial blood pressure, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 0 0 0 4 0 0 0 0 5 ENSG00000169084 chrX 2219516 2502805 - DHRSX protein_coding 207063 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, GO:0010508, GO:0010508, oxidation-reduction process, positive regulation of autophagy, positive regulation of autophagy, 0 0 0 0 0 0 0 0 0 ENSG00000169085 chr8 66493208 66518524 + VXN protein_coding 254778 GO:0005886, GO:0005634, plasma membrane, nucleus, GO:0005515, protein binding, GO:0030182, GO:0030182, GO:0022008, neuron differentiation, neuron differentiation, neurogenesis, 0 0 1 0 0 0 0 0 0 ENSG00000169087 chr3 122740003 122793824 - HSPBAP1 protein_coding This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]. 79663 GO:0005737, cytoplasm, GO:0016706, GO:0005515, 2-oxoglutarate-dependent dioxygenase activity, protein binding, GO:0055114, oxidation-reduction process, 684 893 669 755 1557 913 752 976 668 ENSG00000169093 chrX 1403139 1453762 - ASMTL protein_coding The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 8623 GO:0005829, cytosol, GO:0047429, GO:0036218, GO:0035529, GO:0008171, GO:0005515, GO:0003674, nucleoside-triphosphate diphosphatase activity, dTTP diphosphatase activity, NADH pyrophosphatase activity, O-methyltransferase activity, protein binding, molecular_function, GO:0032259, GO:0009117, GO:0008150, methylation, nucleotide metabolic process, biological_process, 0 1 0 0 0 0 0 1 0 ENSG00000169100 chrX 1386152 1392724 - SLC25A6 protein_coding This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013]. 293 GO:0016021, GO:0016020, GO:0005744, GO:0005743, GO:0005739, GO:0005739, GO:0005634, integral component of membrane, membrane, TIM23 mitochondrial import inner membrane translocase complex, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleus, GO:0005515, GO:0005471, protein binding, ATP:ADP antiporter activity, GO:1990544, GO:0140021, GO:0050796, GO:0016032, GO:0006915, GO:0006626, mitochondrial ATP transmembrane transport, mitochondrial ADP transmembrane transport, regulation of insulin secretion, viral process, apoptotic process, protein targeting to mitochondrion, 0 0 0 0 0 0 0 0 0 ENSG00000169105 chr15 40470998 40474571 + CHST14 protein_coding This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]. 113189 GO:0070062, GO:0016021, GO:0000139, extracellular exosome, integral component of membrane, Golgi membrane, GO:0042301, GO:0008146, GO:0001537, GO:0001537, phosphate ion binding, sulfotransferase activity, N-acetylgalactosamine 4-O-sulfotransferase activity, N-acetylgalactosamine 4-O-sulfotransferase activity, GO:0050655, GO:0050655, GO:0030208, GO:0030208, GO:0016051, dermatan sulfate proteoglycan metabolic process, dermatan sulfate proteoglycan metabolic process, dermatan sulfate biosynthetic process, dermatan sulfate biosynthetic process, carbohydrate biosynthetic process, 8 28 14 7 13 26 25 20 23 ENSG00000169116 chr4 74933095 75050115 + PARM1 protein_coding 25849 GO:0043231, GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005794, GO:0005770, GO:0005770, GO:0005769, GO:0005769, GO:0005654, GO:0000139, intracellular membrane-bounded organelle, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, Golgi apparatus, late endosome, late endosome, early endosome, early endosome, nucleoplasm, Golgi membrane, GO:0005515, protein binding, GO:0051973, GO:0051973, positive regulation of telomerase activity, positive regulation of telomerase activity, 7 5 0 4 1 0 9 2 11 ENSG00000169118 chr15 64165517 64356259 - CSNK1G1 protein_coding This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]. 53944 GO:0005886, GO:0005829, GO:0005737, GO:0005634, plasma membrane, cytosol, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0090263, GO:0018105, GO:0018105, GO:0016055, GO:0006897, positive regulation of canonical Wnt signaling pathway, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, endocytosis, 189 192 270 217 286 384 239 217 202 ENSG00000169122 chr8 57994509 58204279 + FAM110B protein_coding 90362 GO:0005829, GO:0005815, GO:0005739, cytosol, microtubule organizing center, mitochondrion, GO:0005515, protein binding, 10 32 19 3 12 16 4 14 12 ENSG00000169126 chr10 27812164 27999048 - ARMC4 protein_coding The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 55130 GO:0097546, GO:0005930, ciliary base, axoneme, GO:0005515, protein binding, GO:0036158, GO:0021591, GO:0007507, GO:0007368, GO:0003356, GO:0003341, outer dynein arm assembly, ventricular system development, heart development, determination of left/right symmetry, regulation of cilium beat frequency, cilium movement, 0 0 0 0 0 0 0 1 0 ENSG00000169129 chr10 114294824 114404756 - AFAP1L2 protein_coding 84632 GO:0005886, GO:0005829, GO:0005829, GO:0005737, plasma membrane, cytosol, cytosol, cytoplasm, GO:0042169, GO:0042169, GO:0035591, GO:0030296, GO:0017124, GO:0017124, SH2 domain binding, SH2 domain binding, signaling adaptor activity, protein tyrosine kinase activator activity, SH3 domain binding, SH3 domain binding, GO:0061098, GO:0045893, GO:0045893, GO:0045742, GO:0045742, GO:0032757, GO:0032757, GO:0032675, GO:0032675, GO:0007346, GO:0007346, GO:0006954, GO:0006954, positive regulation of protein tyrosine kinase activity, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of interleukin-8 production, positive regulation of interleukin-8 production, regulation of interleukin-6 production, regulation of interleukin-6 production, regulation of mitotic cell cycle, regulation of mitotic cell cycle, inflammatory response, inflammatory response, 0 0 7 2 1 3 5 1 5 ENSG00000169131 chr5 178711592 178730702 - ZNF354A protein_coding 6940 GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005634, cytosol, nucleolus, nucleoplasm, nucleus, nucleus, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051593, GO:0007605, GO:0007576, GO:0006357, GO:0001822, GO:0001666, GO:0000122, response to folic acid, sensory perception of sound, nucleolar fragmentation, regulation of transcription by RNA polymerase II, kidney development, response to hypoxia, negative regulation of transcription by RNA polymerase II, 58 107 10 77 191 47 120 154 28 ENSG00000169136 chr19 49928702 49933935 + ATF5 protein_coding 22809 GO:0005829, GO:0005813, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, centrosome, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:0043565, GO:0019900, GO:0015631, GO:0005515, GO:0003700, GO:0003700, GO:0003682, GO:0001228, GO:0001228, GO:0000981, GO:0000977, GO:0000977, GO:0000976, sequence-specific DNA binding, kinase binding, tubulin binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1902750, GO:0046605, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045444, GO:0043066, GO:0035264, GO:0021930, GO:0021891, GO:0009791, GO:0008285, GO:0007623, GO:0006357, GO:0006355, negative regulation of cell cycle G2/M phase transition, regulation of centrosome cycle, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, fat cell differentiation, negative regulation of apoptotic process, multicellular organism growth, cerebellar granule cell precursor proliferation, olfactory bulb interneuron development, post-embryonic development, negative regulation of cell population proliferation, circadian rhythm, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 27 64 44 67 46 90 64 48 68 ENSG00000169139 chr8 48008400 48064708 + UBE2V2 protein_coding Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]. 7336 GO:0070062, GO:0031372, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, UBC13-MMS2 complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0061631, GO:0005515, ubiquitin conjugating enzyme activity, protein binding, GO:0070534, GO:0051965, GO:0045739, GO:0043524, GO:0042275, GO:0032436, GO:0016567, GO:0010976, GO:0006303, GO:0006301, GO:0006282, GO:0000729, GO:0000209, protein K63-linked ubiquitination, positive regulation of synapse assembly, positive regulation of DNA repair, negative regulation of neuron apoptotic process, error-free postreplication DNA repair, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, positive regulation of neuron projection development, double-strand break repair via nonhomologous end joining, postreplication repair, regulation of DNA repair, DNA double-strand break processing, protein polyubiquitination, 158 176 156 83 107 116 91 97 99 ENSG00000169154 chr8 37934281 37940129 - GOT1L1 protein_coding 137362 GO:0005829, cytosol, GO:0030170, GO:0004069, pyridoxal phosphate binding, L-aspartate:2-oxoglutarate aminotransferase activity, GO:0006532, aspartate biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000169155 chr9 126805006 126838210 + ZBTB43 protein_coding 23099 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 202 188 241 223 252 335 217 192 275 ENSG00000169164 chrX 55654709 55657014 - AL159987.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000169169 chr19 49690898 49713731 + CPT1C protein_coding This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 126129 GO:0045202, GO:0032281, GO:0030425, GO:0030424, GO:0005789, GO:0005783, GO:0005741, GO:0005739, synapse, AMPA glutamate receptor complex, dendrite, axon, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial outer membrane, mitochondrion, GO:0005515, GO:0004095, protein binding, carnitine O-palmitoyltransferase activity, GO:0009437, GO:0006635, GO:0006631, carnitine metabolic process, fatty acid beta-oxidation, fatty acid metabolic process, 0 2 0 0 10 2 0 5 0 ENSG00000169174 chr1 55039548 55064852 + PCSK9 protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 255738 GO:1990667, GO:1990666, GO:0048471, GO:0036020, GO:0031232, GO:0030134, GO:0009986, GO:0005886, GO:0005794, GO:0005791, GO:0005788, GO:0005783, GO:0005770, GO:0005769, GO:0005765, GO:0005764, GO:0005737, GO:0005615, GO:0005615, GO:0005576, PCSK9-AnxA2 complex, PCSK9-LDLR complex, perinuclear region of cytoplasm, endolysosome membrane, extrinsic component of external side of plasma membrane, COPII-coated ER to Golgi transport vesicle, cell surface, plasma membrane, Golgi apparatus, rough endoplasmic reticulum, endoplasmic reticulum lumen, endoplasmic reticulum, late endosome, early endosome, lysosomal membrane, lysosome, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0070326, GO:0050750, GO:0050750, GO:0043621, GO:0034190, GO:0034189, GO:0034185, GO:0030547, GO:0030169, GO:0019871, GO:0005515, GO:0004252, GO:0004252, GO:0003723, very-low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, low-density lipoprotein particle receptor binding, protein self-association, apolipoprotein receptor binding, very-low-density lipoprotein particle binding, apolipoprotein binding, receptor inhibitor activity, low-density lipoprotein particle binding, sodium channel inhibitor activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, RNA binding, GO:2000650, GO:2000272, GO:1905601, GO:1905598, GO:1905596, GO:0044267, GO:0043687, GO:0043525, GO:0043523, GO:0042632, GO:0042157, GO:0034383, GO:0032869, GO:0032805, GO:0032802, GO:0032802, GO:0030182, GO:0022008, GO:0016540, GO:0010989, GO:0010469, GO:0009267, GO:0008203, GO:0007041, GO:0006915, GO:0006644, GO:0006641, GO:0002092, GO:0001920, GO:0001889, GO:0001822, negative regulation of sodium ion transmembrane transporter activity, negative regulation of signaling receptor activity, negative regulation of receptor-mediated endocytosis involved in cholesterol transport, negative regulation of low-density lipoprotein receptor activity, negative regulation of low-density lipoprotein particle receptor binding, cellular protein metabolic process, post-translational protein modification, positive regulation of neuron apoptotic process, regulation of neuron apoptotic process, cholesterol homeostasis, lipoprotein metabolic process, low-density lipoprotein particle clearance, cellular response to insulin stimulus, positive regulation of low-density lipoprotein particle receptor catabolic process, low-density lipoprotein particle receptor catabolic process, low-density lipoprotein particle receptor catabolic process, neuron differentiation, neurogenesis, protein autoprocessing, negative regulation of low-density lipoprotein particle clearance, regulation of signaling receptor activity, cellular response to starvation, cholesterol metabolic process, lysosomal transport, apoptotic process, phospholipid metabolic process, triglyceride metabolic process, positive regulation of receptor internalization, negative regulation of receptor recycling, liver development, kidney development, 0 0 0 3 1 0 0 0 0 ENSG00000169180 chr16 28097979 28211920 - XPO6 protein_coding The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]. 23214 GO:0032991, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, protein-containing complex, plasma membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0031267, GO:0005515, GO:0005049, small GTPase binding, protein binding, nuclear export signal receptor activity, GO:0006611, GO:0006611, protein export from nucleus, protein export from nucleus, 16905 17550 21752 9570 15764 12943 10739 12084 11214 ENSG00000169181 chr16 27787535 28063509 - GSG1L protein_coding 146395 GO:0099061, GO:0005886, integral component of postsynaptic density membrane, plasma membrane, GO:0005515, protein binding, GO:2000311, regulation of AMPA receptor activity, 1 1 2 0 3 0 4 4 0 ENSG00000169184 chr22 27748277 27801498 - MN1 protein_coding Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]. 4330 GO:0005634, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1902806, GO:0070564, GO:0033689, GO:0007275, GO:0006355, GO:0001957, regulation of cell cycle G1/S phase transition, positive regulation of vitamin D receptor signaling pathway, negative regulation of osteoblast proliferation, multicellular organism development, regulation of transcription, DNA-templated, intramembranous ossification, 7 12 10 10 9 4 4 13 8 ENSG00000169188 chrX 55000357 55009057 + APEX2 protein_coding Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]. 27301 GO:0043231, GO:0005739, GO:0005654, GO:0005634, GO:0001650, intracellular membrane-bounded organelle, mitochondrion, nucleoplasm, nucleus, fibrillar center, GO:0008311, GO:0008270, GO:0005515, GO:0004528, GO:0004519, GO:0003906, GO:0003677, double-stranded DNA 3'-5' exodeoxyribonuclease activity, zinc ion binding, protein binding, phosphodiesterase I activity, endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA binding, GO:0090305, GO:0007049, GO:0006310, GO:0006284, nucleic acid phosphodiester bond hydrolysis, cell cycle, DNA recombination, base-excision repair, 29 13 53 48 43 35 44 28 24 ENSG00000169189 chr16 27224991 27268794 - NSMCE1 protein_coding 197370 GO:0043231, GO:0030915, GO:0030915, GO:0005654, GO:0005654, GO:0005634, GO:0000781, intracellular membrane-bounded organelle, Smc5-Smc6 complex, Smc5-Smc6 complex, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0061630, GO:0046983, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, protein dimerization activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:2001022, GO:0035556, GO:0016567, GO:0006301, GO:0000724, positive regulation of response to DNA damage stimulus, intracellular signal transduction, protein ubiquitination, postreplication repair, double-strand break repair via homologous recombination, 86 61 94 92 44 77 83 48 93 ENSG00000169193 chr7 23597379 23644708 + CCDC126 protein_coding 90693 GO:0016020, GO:0005576, membrane, extracellular region, 128 93 122 42 72 81 79 77 33 ENSG00000169194 chr5 132656263 132661110 + IL13 protein_coding This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [provided by RefSeq, Jul 2008]. 3596 GO:0009897, GO:0005737, GO:0005615, GO:0005576, GO:0005576, external side of plasma membrane, cytoplasm, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005144, GO:0005125, protein binding, interleukin-13 receptor binding, cytokine activity, GO:2000352, GO:2000231, GO:1903660, GO:1901251, GO:1901247, GO:1901215, GO:0120162, GO:0071635, GO:0071260, GO:0051281, GO:0050728, GO:0050714, GO:0048661, GO:0045471, GO:0043306, GO:0043032, GO:0042531, GO:0042116, GO:0035094, GO:0033861, GO:0032733, GO:0032723, GO:0032496, GO:0030890, GO:0019221, GO:0010628, GO:0010628, GO:0010155, GO:0006955, GO:0006954, GO:0002639, GO:0001774, negative regulation of endothelial cell apoptotic process, positive regulation of pancreatic stellate cell proliferation, negative regulation of complement-dependent cytotoxicity, positive regulation of lung goblet cell differentiation, negative regulation of lung ciliated cell differentiation, negative regulation of neuron death, positive regulation of cold-induced thermogenesis, negative regulation of transforming growth factor beta production, cellular response to mechanical stimulus, positive regulation of release of sequestered calcium ion into cytosol, negative regulation of inflammatory response, positive regulation of protein secretion, positive regulation of smooth muscle cell proliferation, response to ethanol, positive regulation of mast cell degranulation, positive regulation of macrophage activation, positive regulation of tyrosine phosphorylation of STAT protein, macrophage activation, response to nicotine, negative regulation of NAD(P)H oxidase activity, positive regulation of interleukin-10 production, positive regulation of connective tissue growth factor production, response to lipopolysaccharide, positive regulation of B cell proliferation, cytokine-mediated signaling pathway, positive regulation of gene expression, positive regulation of gene expression, regulation of proton transport, immune response, inflammatory response, positive regulation of immunoglobulin production, microglial cell activation, 0 0 0 0 2 4 3 0 4 ENSG00000169203 chr16 29483642 29505999 - NPIPB12 protein_coding 440353 GO:0016021, GO:0005654, integral component of membrane, nucleoplasm, 37 48 75 56 106 84 64 54 75 ENSG00000169208 chr14 21568520 21580076 - OR10G3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26533 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169213 chr1 51907956 51990764 - RAB3B protein_coding 5865 GO:0098993, GO:0098993, GO:0098691, GO:0098691, GO:0070062, GO:0048471, GO:0031982, GO:0030141, GO:0008021, GO:0005886, GO:0005829, GO:0005794, GO:0005768, GO:0005737, anchored component of synaptic vesicle membrane, anchored component of synaptic vesicle membrane, dopaminergic synapse, dopaminergic synapse, extracellular exosome, perinuclear region of cytoplasm, vesicle, secretory granule, synaptic vesicle, plasma membrane, cytosol, Golgi apparatus, endosome, cytoplasm, GO:0031489, GO:0030742, GO:0019003, GO:0005525, GO:0005515, GO:0003924, myosin V binding, GTP-dependent protein binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:0098693, GO:0098693, GO:0097494, GO:0072659, GO:0051586, GO:0019882, GO:0018125, GO:0017157, GO:0009306, GO:0006904, regulation of synaptic vesicle cycle, regulation of synaptic vesicle cycle, regulation of vesicle size, protein localization to plasma membrane, positive regulation of dopamine uptake involved in synaptic transmission, antigen processing and presentation, peptidyl-cysteine methylation, regulation of exocytosis, protein secretion, vesicle docking involved in exocytosis, 0 0 0 0 0 2 0 0 1 ENSG00000169214 chr1 247711436 247716646 - OR6F1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 343169 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169217 chr16 30350766 30355361 - CD2BP2 protein_coding This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]. 10421 GO:0046540, GO:0016607, GO:0016607, GO:0005829, GO:0005737, GO:0005682, GO:0005682, GO:0005654, GO:0005654, GO:0005634, GO:0001650, U4/U6 x U5 tri-snRNP complex, nuclear speck, nuclear speck, cytosol, cytoplasm, U5 snRNP, U5 snRNP, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:0043021, GO:0005515, ribonucleoprotein complex binding, protein binding, GO:0010923, GO:0000398, GO:0000244, negative regulation of phosphatase activity, mRNA splicing, via spliceosome, spliceosomal tri-snRNP complex assembly, 1249 1075 1325 864 924 759 957 744 743 ENSG00000169218 chr1 37611350 37634923 - RSPO1 protein_coding This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 284654 GO:0005634, GO:0005576, GO:0005576, nucleus, extracellular region, extracellular region, GO:0008201, GO:0005515, GO:0005102, GO:0001664, heparin binding, protein binding, signaling receptor binding, G protein-coupled receptor binding, GO:0090263, GO:0030177, GO:0030177, GO:0016055, GO:0002090, GO:0001934, positive regulation of canonical Wnt signaling pathway, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, Wnt signaling pathway, regulation of receptor internalization, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000169220 chr5 177357837 177372601 + RGS14 protein_coding This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 10636 GO:0098978, GO:0043197, GO:0030425, GO:0016605, GO:0016604, GO:0014069, GO:0005886, GO:0005886, GO:0005874, GO:0005819, GO:0005813, GO:0005737, GO:0005634, GO:0000922, glutamatergic synapse, dendritic spine, dendrite, PML body, nuclear body, postsynaptic density, plasma membrane, plasma membrane, microtubule, spindle, centrosome, cytoplasm, nucleus, spindle pole, GO:0032794, GO:0030159, GO:0019901, GO:0008017, GO:0005515, GO:0005096, GO:0005092, GO:0003924, GO:0001965, GTPase activating protein binding, signaling receptor complex adaptor activity, protein kinase binding, microtubule binding, protein binding, GTPase activator activity, GDP-dissociation inhibitor activity, GTPase activity, G-protein alpha-subunit binding, GO:0070373, GO:0060291, GO:0051301, GO:0050769, GO:0048008, GO:0045744, GO:0043620, GO:0043547, GO:0043407, GO:0035556, GO:0031914, GO:0010070, GO:0008542, GO:0008277, GO:0007616, GO:0007612, GO:0007186, GO:0007059, GO:0007051, GO:0006979, GO:0006913, GO:0000278, negative regulation of ERK1 and ERK2 cascade, long-term synaptic potentiation, cell division, positive regulation of neurogenesis, platelet-derived growth factor receptor signaling pathway, negative regulation of G protein-coupled receptor signaling pathway, regulation of DNA-templated transcription in response to stress, positive regulation of GTPase activity, negative regulation of MAP kinase activity, intracellular signal transduction, negative regulation of synaptic plasticity, zygote asymmetric cell division, visual learning, regulation of G protein-coupled receptor signaling pathway, long-term memory, learning, G protein-coupled receptor signaling pathway, chromosome segregation, spindle organization, response to oxidative stress, nucleocytoplasmic transport, mitotic cell cycle, 1439 1498 1797 1504 2065 1776 1639 1684 1758 ENSG00000169221 chr16 30357102 30370264 - TBC1D10B protein_coding Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]. 26000 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0031267, GO:0005515, GO:0005096, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GO:1902017, GO:0090630, GO:0043087, GO:0042147, GO:0006886, regulation of cilium assembly, activation of GTPase activity, regulation of GTPase activity, retrograde transport, endosome to Golgi, intracellular protein transport, 1847 1802 2001 913 1305 1167 1091 955 921 ENSG00000169223 chr5 177331562 177351852 - LMAN2 protein_coding This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008]. 10960 GO:0070062, GO:0033116, GO:0030134, GO:0009986, GO:0005887, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005615, GO:0000139, extracellular exosome, endoplasmic reticulum-Golgi intermediate compartment membrane, COPII-coated ER to Golgi transport vesicle, cell surface, integral component of plasma membrane, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, extracellular space, Golgi membrane, GO:0046872, GO:0031072, GO:0030246, GO:0005537, GO:0005537, GO:0005515, metal ion binding, heat shock protein binding, carbohydrate binding, mannose binding, mannose binding, protein binding, GO:0050766, GO:0015031, GO:0007030, GO:0007029, GO:0006890, GO:0006888, positive regulation of phagocytosis, protein transport, Golgi organization, endoplasmic reticulum organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, 1049 997 1247 454 773 544 603 711 668 ENSG00000169224 chr1 247507058 247577690 + GCSAML protein_coding This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 148823 GO:0005515, protein binding, GO:2000401, GO:0050855, regulation of lymphocyte migration, regulation of B cell receptor signaling pathway, 19 15 15 18 17 22 22 12 5 ENSG00000169228 chr5 177301198 177303744 - RAB24 protein_coding RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009]. 53917 GO:0030667, GO:0030139, GO:0012505, GO:0005886, GO:0005829, GO:0005776, GO:0005768, secretory granule membrane, endocytic vesicle, endomembrane system, plasma membrane, cytosol, autophagosome, endosome, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0043312, GO:0006914, GO:0006886, neutrophil degranulation, autophagy, intracellular protein transport, 300 176 371 278 258 264 244 198 237 ENSG00000169230 chr5 177303774 177306959 + PRELID1 protein_coding This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]. 27166 GO:0032991, GO:0005758, GO:0005758, GO:0005758, GO:0005739, GO:0005739, GO:0005654, protein-containing complex, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrion, mitochondrion, nucleoplasm, GO:1990050, GO:0005515, phosphatidic acid transfer activity, protein binding, GO:2001140, GO:1901857, GO:0120009, GO:0097035, GO:0090201, GO:0070234, GO:0051881, GO:0045580, GO:0043066, GO:0043066, GO:0042981, GO:0015914, GO:0010950, GO:0010917, GO:0007275, GO:0006955, GO:0006915, positive regulation of phospholipid transport, positive regulation of cellular respiration, intermembrane lipid transfer, regulation of membrane lipid distribution, negative regulation of release of cytochrome c from mitochondria, positive regulation of T cell apoptotic process, regulation of mitochondrial membrane potential, regulation of T cell differentiation, negative regulation of apoptotic process, negative regulation of apoptotic process, regulation of apoptotic process, phospholipid transport, positive regulation of endopeptidase activity, negative regulation of mitochondrial membrane potential, multicellular organism development, immune response, apoptotic process, 1676 1350 2251 440 882 612 632 725 557 ENSG00000169231 chr1 155195588 155209051 - THBS3 protein_coding The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]. 7059 GO:0062023, GO:0062023, GO:0048471, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, perinuclear region of cytoplasm, extracellular region, GO:0008201, GO:0005515, GO:0005509, GO:0005201, heparin binding, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0060346, GO:0043931, GO:0007160, GO:0003417, bone trabecula formation, ossification involved in bone maturation, cell-matrix adhesion, growth plate cartilage development, 358 443 420 485 696 462 495 485 348 ENSG00000169239 chrX 15688830 15788409 + CA5B protein_coding Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes carbonic anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A carbonic anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019]. 11238 GO:0005759, GO:0005739, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0016836, GO:0008270, GO:0004089, hydro-lyase activity, zinc ion binding, carbonate dehydratase activity, GO:0015701, GO:0009617, GO:0006730, bicarbonate transport, response to bacterium, one-carbon metabolic process, 75 42 114 102 57 76 100 31 96 ENSG00000169241 chr1 155135344 155138857 + SLC50A1 protein_coding 55974 GO:0016021, GO:0012505, GO:0005886, GO:0005886, GO:0005794, GO:0000139, integral component of membrane, endomembrane system, plasma membrane, plasma membrane, Golgi apparatus, Golgi membrane, GO:0051119, GO:0051119, GO:0042947, GO:0005515, sugar transmembrane transporter activity, sugar transmembrane transporter activity, glucoside transmembrane transporter activity, protein binding, GO:0042946, GO:0008645, GO:0008643, glucoside transport, hexose transmembrane transport, carbohydrate transport, 54 62 80 57 54 123 64 49 86 ENSG00000169242 chr1 155127460 155134857 + EFNA1 protein_coding This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]. 1942 GO:0046658, GO:0005886, GO:0005886, GO:0005886, GO:0005576, anchored component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0046875, GO:0046875, GO:0005515, GO:0005102, ephrin receptor binding, ephrin receptor binding, protein binding, signaling receptor binding, GO:1903051, GO:1902961, GO:1902004, GO:0070244, GO:0061098, GO:0061002, GO:0050821, GO:0050770, GO:0050731, GO:0050730, GO:0048013, GO:0048013, GO:0048013, GO:0048013, GO:0045765, GO:0043535, GO:0043410, GO:0043409, GO:0034446, GO:0033628, GO:0016477, GO:0014028, GO:0010719, GO:0007411, GO:0007267, GO:0003199, GO:0003183, GO:0003180, GO:0001934, GO:0001525, GO:0000122, negative regulation of proteolysis involved in cellular protein catabolic process, positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, positive regulation of amyloid-beta formation, negative regulation of thymocyte apoptotic process, positive regulation of protein tyrosine kinase activity, negative regulation of dendritic spine morphogenesis, protein stabilization, regulation of axonogenesis, positive regulation of peptidyl-tyrosine phosphorylation, regulation of peptidyl-tyrosine phosphorylation, ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, regulation of angiogenesis, regulation of blood vessel endothelial cell migration, positive regulation of MAPK cascade, negative regulation of MAPK cascade, substrate adhesion-dependent cell spreading, regulation of cell adhesion mediated by integrin, cell migration, notochord formation, negative regulation of epithelial to mesenchymal transition, axon guidance, cell-cell signaling, endocardial cushion to mesenchymal transition involved in heart valve formation, mitral valve morphogenesis, aortic valve morphogenesis, positive regulation of protein phosphorylation, angiogenesis, negative regulation of transcription by RNA polymerase II, 2 3 1 0 2 4 2 4 0 ENSG00000169245 chr4 76021117 76023497 - CXCL10 protein_coding This antimicrobial gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. This gene may also be a key regulator of the 'cytokine storm' immune response to SARS-CoV-2 infection. [provided by RefSeq, Sep 2020]. 3627 GO:0009897, GO:0005615, GO:0005576, GO:0005576, external side of plasma membrane, extracellular space, extracellular region, extracellular region, GO:0048248, GO:0045236, GO:0042056, GO:0008603, GO:0008201, GO:0008009, GO:0008009, GO:0005515, GO:0005102, CXCR3 chemokine receptor binding, CXCR chemokine receptor binding, chemoattractant activity, cAMP-dependent protein kinase regulator activity, heparin binding, chemokine activity, chemokine activity, protein binding, signaling receptor binding, GO:2000479, GO:2000406, GO:1901740, GO:1901509, GO:0090026, GO:0071222, GO:0071222, GO:0070098, GO:0070098, GO:0061844, GO:0051607, GO:0051281, GO:0050918, GO:0045944, GO:0045662, GO:0042981, GO:0042127, GO:0042118, GO:0034605, GO:0033280, GO:0030593, GO:0019221, GO:0016525, GO:0010996, GO:0010819, GO:0010818, GO:0010332, GO:0009409, GO:0008284, GO:0008015, GO:0007517, GO:0007267, GO:0007189, GO:0007186, GO:0007186, GO:0007166, GO:0007165, GO:0006954, GO:0006935, regulation of cAMP-dependent protein kinase activity, positive regulation of T cell migration, negative regulation of myoblast fusion, regulation of endothelial tube morphogenesis, positive regulation of monocyte chemotaxis, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to virus, positive regulation of release of sequestered calcium ion into cytosol, positive chemotaxis, positive regulation of transcription by RNA polymerase II, negative regulation of myoblast differentiation, regulation of apoptotic process, regulation of cell population proliferation, endothelial cell activation, cellular response to heat, response to vitamin D, neutrophil chemotaxis, cytokine-mediated signaling pathway, negative regulation of angiogenesis, response to auditory stimulus, regulation of T cell chemotaxis, T cell chemotaxis, response to gamma radiation, response to cold, positive regulation of cell population proliferation, blood circulation, muscle organ development, cell-cell signaling, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000169246 chr16 21402237 21448567 - NPIPB3 protein_coding 23117 GO:0016021, GO:0005654, GO:0005654, integral component of membrane, nucleoplasm, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 56 103 106 158 154 220 136 74 225 ENSG00000169247 chr5 148923639 149063163 - SH3TC2 protein_coding This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]. 79628 GO:0031410, GO:0005886, cytoplasmic vesicle, plasma membrane, GO:1901184, GO:0033157, GO:0032287, regulation of ERBB signaling pathway, regulation of intracellular protein transport, peripheral nervous system myelin maintenance, 0 0 1 4 0 0 0 2 5 ENSG00000169248 chr4 76033682 76041415 - CXCL11 protein_coding Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. 6373 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048248, GO:0045236, GO:0008201, GO:0008009, GO:0008009, GO:0005515, CXCR3 chemokine receptor binding, CXCR chemokine receptor binding, heparin binding, chemokine activity, chemokine activity, protein binding, GO:0071222, GO:0070098, GO:0070098, GO:0061844, GO:0051281, GO:0042127, GO:0030593, GO:0010818, GO:0007267, GO:0007189, GO:0007186, GO:0007165, GO:0006954, GO:0006935, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, positive regulation of release of sequestered calcium ion into cytosol, regulation of cell population proliferation, neutrophil chemotaxis, T cell chemotaxis, cell-cell signaling, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, 0 0 0 0 0 0 0 1 0 ENSG00000169249 chrX 15790472 15823260 + ZRSR2 protein_coding This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]. 8233 GO:0089701, GO:0005689, GO:0005681, GO:0005654, U2AF complex, U12-type spliceosomal complex, spliceosomal complex, nucleoplasm, GO:0046872, GO:0042802, GO:0030628, GO:0030628, GO:0005515, metal ion binding, identical protein binding, pre-mRNA 3'-splice site binding, pre-mRNA 3'-splice site binding, protein binding, GO:0008380, GO:0000398, GO:0000398, GO:0000398, GO:0000245, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal complex assembly, 135 89 164 106 100 97 129 138 96 ENSG00000169251 chr3 161104696 161253532 + NMD3 protein_coding Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]. 51068 GO:0016020, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, membrane, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0043023, GO:0043023, GO:0043023, GO:0030674, GO:0003723, ribosomal large subunit binding, ribosomal large subunit binding, ribosomal large subunit binding, protein-macromolecule adaptor activity, RNA binding, GO:1904751, GO:1902680, GO:0032092, GO:0000055, GO:0000055, positive regulation of protein localization to nucleolus, positive regulation of RNA biosynthetic process, positive regulation of protein binding, ribosomal large subunit export from nucleus, ribosomal large subunit export from nucleus, 232 133 199 188 132 183 148 90 132 ENSG00000169252 chr5 148825245 148828687 + ADRB2 protein_coding This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]. 154 GO:0043235, GO:0030665, GO:0016324, GO:0016020, GO:0010008, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005769, GO:0005768, GO:0005764, GO:0005634, receptor complex, clathrin-coated vesicle membrane, apical plasma membrane, membrane, endosome membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, early endosome, endosome, lysosome, nucleus, GO:0051380, GO:0051380, GO:0044877, GO:0042803, GO:0042802, GO:0015459, GO:0008179, GO:0005515, GO:0004941, GO:0004941, GO:0004941, GO:0004930, GO:0001540, norepinephrine binding, norepinephrine binding, protein-containing complex binding, protein homodimerization activity, identical protein binding, potassium channel regulator activity, adenylate cyclase binding, protein binding, beta2-adrenergic receptor activity, beta2-adrenergic receptor activity, beta2-adrenergic receptor activity, G protein-coupled receptor activity, amyloid-beta binding, GO:2000969, GO:2000481, GO:1990911, GO:1904646, GO:1904504, GO:1901098, GO:0120162, GO:0071902, GO:0071880, GO:0071875, GO:0061885, GO:0061024, GO:0050873, GO:0045986, GO:0045944, GO:0045453, GO:0043410, GO:0040015, GO:0031649, GO:0031398, GO:0030501, GO:0016579, GO:0010739, GO:0009409, GO:0008333, GO:0007190, GO:0007188, GO:0007186, GO:0007171, GO:0007166, GO:0006898, GO:0002032, GO:0002028, GO:0002025, GO:0002024, positive regulation of AMPA receptor activity, positive regulation of cAMP-dependent protein kinase activity, response to psychosocial stress, cellular response to amyloid-beta, positive regulation of lipophagy, positive regulation of autophagosome maturation, positive regulation of cold-induced thermogenesis, positive regulation of protein serine/threonine kinase activity, adenylate cyclase-activating adrenergic receptor signaling pathway, adrenergic receptor signaling pathway, positive regulation of mini excitatory postsynaptic potential, membrane organization, brown fat cell differentiation, negative regulation of smooth muscle contraction, positive regulation of transcription by RNA polymerase II, bone resorption, positive regulation of MAPK cascade, negative regulation of multicellular organism growth, heat generation, positive regulation of protein ubiquitination, positive regulation of bone mineralization, protein deubiquitination, positive regulation of protein kinase A signaling, response to cold, endosome to lysosome transport, activation of adenylate cyclase activity, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, activation of transmembrane receptor protein tyrosine kinase activity, cell surface receptor signaling pathway, receptor-mediated endocytosis, desensitization of G protein-coupled receptor signaling pathway by arrestin, regulation of sodium ion transport, norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure, diet induced thermogenesis, 88 113 190 64 196 237 79 119 134 ENSG00000169253 chr9 108626833 108627150 + AL669983.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000169255 chr3 161083883 161105384 - B3GALNT1 protein_coding This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]. 8706 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0047273, GO:0008532, GO:0008499, GO:0008376, GO:0008375, galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0030311, GO:0009312, GO:0006687, GO:0006486, GO:0006486, poly-N-acetyllactosamine biosynthetic process, oligosaccharide biosynthetic process, glycosphingolipid metabolic process, protein glycosylation, protein glycosylation, 2 2 0 4 0 0 3 2 0 ENSG00000169258 chr5 176595802 176610133 - GPRIN1 protein_coding 114787 GO:0030426, GO:0005886, growth cone, plasma membrane, GO:0051219, phosphoprotein binding, GO:0031175, neuron projection development, 5 3 10 1 6 0 14 0 5 ENSG00000169271 chr5 54455601 54456384 + HSPB3 protein_coding This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]. 8988 GO:0016607, GO:0016607, GO:0005737, GO:0005737, GO:0005634, nuclear speck, nuclear speck, cytoplasm, cytoplasm, nucleus, GO:0006986, response to unfolded protein, 0 0 0 0 0 0 0 0 1 ENSG00000169282 chr3 156037701 156539138 + KCNAB1 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]. 7881 GO:1990635, GO:0044224, GO:0043204, GO:0034705, GO:0032839, GO:0031234, GO:0031234, GO:0008076, GO:0008076, GO:0005886, GO:0005829, proximal dendrite, juxtaparanode region of axon, perikaryon, potassium channel complex, dendrite cytoplasm, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, cytosol, GO:0070402, GO:0044325, GO:0019904, GO:0015459, GO:0015459, GO:0005249, GO:0004033, GO:0004033, NADPH binding, ion channel binding, protein domain specific binding, potassium channel regulator activity, potassium channel regulator activity, voltage-gated potassium channel activity, aldo-keto reductase (NADP) activity, aldo-keto reductase (NADP) activity, GO:1903817, GO:1902260, GO:1902259, GO:1901379, GO:1901379, GO:0071805, GO:0060539, GO:0055114, GO:0055114, GO:0045445, GO:0007611, GO:0007519, GO:0007507, GO:0007420, GO:0006813, negative regulation of voltage-gated potassium channel activity, negative regulation of delayed rectifier potassium channel activity, regulation of delayed rectifier potassium channel activity, regulation of potassium ion transmembrane transport, regulation of potassium ion transmembrane transport, potassium ion transmembrane transport, diaphragm development, oxidation-reduction process, oxidation-reduction process, myoblast differentiation, learning or memory, skeletal muscle tissue development, heart development, brain development, potassium ion transport, 4 2 8 8 0 6 3 1 2 ENSG00000169288 chr4 77862520 77952790 + MRPL1 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]. 65008 GO:0022625, GO:0005743, GO:0005739, cytosolic large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0070126, GO:0070125, GO:0000470, mitochondrial translational termination, mitochondrial translational elongation, maturation of LSU-rRNA, 16 10 34 29 9 10 24 13 22 ENSG00000169291 chr1 154469772 154502113 - SHE protein_coding 126669 GO:0005515, GO:0001784, protein binding, phosphotyrosine residue binding, 21 34 22 20 20 12 30 33 24 ENSG00000169297 chrX 30304206 30309598 - NR0B1 protein_coding This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]. 190 GO:0043231, GO:0042788, GO:0034451, GO:0016607, GO:0016020, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, polysomal ribosome, centriolar satellite, nuclear speck, membrane, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0042803, GO:0035258, GO:0032448, GO:0019904, GO:0008134, GO:0008134, GO:0005515, GO:0003723, GO:0003714, GO:0003714, protein homodimerization activity, steroid hormone receptor binding, DNA hairpin binding, protein domain specific binding, transcription factor binding, transcription factor binding, protein binding, RNA binding, transcription corepressor activity, transcription corepressor activity, GO:0060008, GO:0045892, GO:0045892, GO:0043433, GO:0043433, GO:0035902, GO:0033327, GO:0033144, GO:0030325, GO:0030325, GO:0030238, GO:0021983, GO:0021854, GO:0010894, GO:0008584, GO:0008584, GO:0008406, GO:0008104, GO:0007283, GO:0006367, GO:0000122, Sertoli cell differentiation, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA-binding transcription factor activity, response to immobilization stress, Leydig cell differentiation, negative regulation of intracellular steroid hormone receptor signaling pathway, adrenal gland development, adrenal gland development, male sex determination, pituitary gland development, hypothalamus development, negative regulation of steroid biosynthetic process, male gonad development, male gonad development, gonad development, protein localization, spermatogenesis, transcription initiation from RNA polymerase II promoter, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000169299 chr4 37826633 37862937 + PGM2 protein_coding 55276 GO:1904813, GO:0070062, GO:0034774, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, cytosol, extracellular region, GO:0008973, GO:0005515, GO:0004614, GO:0000287, phosphopentomutase activity, protein binding, phosphoglucomutase activity, magnesium ion binding, GO:0046386, GO:0043312, GO:0019388, GO:0006098, GO:0006006, GO:0005980, GO:0005978, deoxyribose phosphate catabolic process, neutrophil degranulation, galactose catabolic process, pentose-phosphate shunt, glucose metabolic process, glycogen catabolic process, glycogen biosynthetic process, 450 446 517 275 469 361 390 397 340 ENSG00000169302 chr5 147234963 147387852 + STK32A protein_coding 202374 GO:0005886, plasma membrane, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein serine/threonine kinase activity, GO:0035556, GO:0018105, intracellular signal transduction, peptidyl-serine phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000169306 chrX 28587399 29956723 + IL1RAPL1 protein_coding The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]. 11141 GO:0098978, GO:0098978, GO:0045211, GO:0030425, GO:0030424, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005737, glutamatergic synapse, glutamatergic synapse, postsynaptic membrane, dendrite, axon, integral component of membrane, cell surface, plasma membrane, plasma membrane, cytoplasm, GO:0061809, GO:0050135, GO:0019966, GO:0005515, GO:0005102, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, interleukin-1 binding, protein binding, signaling receptor binding, GO:1905606, GO:1905606, GO:0099545, GO:0099545, GO:0099175, GO:0099175, GO:0097105, GO:0071345, GO:0051965, GO:0050775, GO:0045920, GO:0045920, GO:0030182, GO:0010975, GO:0007165, GO:0007157, regulation of presynapse assembly, regulation of presynapse assembly, trans-synaptic signaling by trans-synaptic complex, trans-synaptic signaling by trans-synaptic complex, regulation of postsynapse organization, regulation of postsynapse organization, presynaptic membrane assembly, cellular response to cytokine stimulus, positive regulation of synapse assembly, positive regulation of dendrite morphogenesis, negative regulation of exocytosis, negative regulation of exocytosis, neuron differentiation, regulation of neuron projection development, signal transduction, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, 0 0 0 0 0 0 0 0 0 ENSG00000169313 chr3 151337380 151384812 - P2RY12 protein_coding The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 64805 GO:0044298, GO:0031253, GO:0031224, GO:0016021, GO:0009986, GO:0009925, GO:0009897, GO:0005901, GO:0005886, GO:0005886, GO:0005739, cell body membrane, cell projection membrane, intrinsic component of membrane, integral component of membrane, cell surface, basal plasma membrane, external side of plasma membrane, caveola, plasma membrane, plasma membrane, mitochondrion, GO:0045028, GO:0005085, GO:0001621, GO:0001621, GO:0001609, G protein-coupled purinergic nucleotide receptor activity, guanyl-nucleotide exchange factor activity, G protein-coupled ADP receptor activity, G protein-coupled ADP receptor activity, G protein-coupled adenosine receptor activity, GO:1904141, GO:1904141, GO:1904139, GO:1904124, GO:1900029, GO:1900029, GO:0150063, GO:0071805, GO:0071318, GO:0070588, GO:0070527, GO:0051924, GO:0051897, GO:0050921, GO:0050920, GO:0050920, GO:0048678, GO:0045596, GO:0043552, GO:0043491, GO:0043270, GO:0035589, GO:0035585, GO:0033630, GO:0033626, GO:0030032, GO:0030030, GO:0021808, GO:0019722, GO:0010700, GO:0007599, GO:0007202, GO:0007200, GO:0007193, GO:0007186, GO:0007186, GO:0007186, GO:0006930, GO:0001973, positive regulation of microglial cell migration, positive regulation of microglial cell migration, regulation of microglial cell migration, microglial cell migration, positive regulation of ruffle assembly, positive regulation of ruffle assembly, visual system development, potassium ion transmembrane transport, cellular response to ATP, calcium ion transmembrane transport, platelet aggregation, regulation of calcium ion transport, positive regulation of protein kinase B signaling, positive regulation of chemotaxis, regulation of chemotaxis, regulation of chemotaxis, response to axon injury, negative regulation of cell differentiation, positive regulation of phosphatidylinositol 3-kinase activity, protein kinase B signaling, positive regulation of ion transport, G protein-coupled purinergic nucleotide receptor signaling pathway, calcium-mediated signaling using extracellular calcium source, positive regulation of cell adhesion mediated by integrin, positive regulation of integrin activation by cell surface receptor linked signal transduction, lamellipodium assembly, cell projection organization, cytosolic calcium signaling involved in initiation of cell movement in glial-mediated radial cell migration, calcium-mediated signaling, negative regulation of norepinephrine secretion, hemostasis, activation of phospholipase C activity, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, substrate-dependent cell migration, cell extension, G protein-coupled adenosine receptor signaling pathway, 1 3 0 0 1 0 4 1 0 ENSG00000169314 chr22 23763021 23765861 + C22orf15 protein_coding 150248 0 0 0 0 1 0 0 0 0 ENSG00000169325 chr7 57200825 57203597 - GUSBP12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000169327 chr14 21148370 21159060 - OR5AU1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390445 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169330 chr15 79432516 79472290 + KIAA1024 protein_coding 23251 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0032007, GO:0032007, GO:0031397, GO:0030308, GO:0016525, GO:0010977, GO:0008285, GO:0008285, GO:0001525, negative regulation of TOR signaling, negative regulation of TOR signaling, negative regulation of protein ubiquitination, negative regulation of cell growth, negative regulation of angiogenesis, negative regulation of neuron projection development, negative regulation of cell population proliferation, negative regulation of cell population proliferation, angiogenesis, 14 10 17 4 0 6 2 3 0 ENSG00000169340 chr16 20359170 20404737 - PDILT protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]. 204474 GO:0005783, endoplasmic reticulum, GO:0003756, protein disulfide isomerase activity, GO:0016477, GO:0007286, GO:0007275, GO:0006457, cell migration, spermatid development, multicellular organism development, protein folding, 0 0 0 0 0 0 0 0 0 ENSG00000169344 chr16 20333052 20356301 - UMOD protein_coding The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 7369 GO:0070062, GO:0060170, GO:0031225, GO:0019898, GO:0016324, GO:0016324, GO:0016323, GO:0009986, GO:0005929, GO:0005796, GO:0005783, GO:0005615, GO:0000922, extracellular exosome, ciliary membrane, anchored component of membrane, extrinsic component of membrane, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, cell surface, cilium, Golgi lumen, endoplasmic reticulum, extracellular space, spindle pole, GO:0019864, GO:0005509, GO:0005201, IgG binding, calcium ion binding, extracellular matrix structural constituent, GO:1990266, GO:1990266, GO:0097709, GO:0097273, GO:0097190, GO:0072665, GO:0072233, GO:0072221, GO:0072218, GO:0072051, GO:0070294, GO:0061077, GO:0055078, GO:0055074, GO:0051223, GO:0050829, GO:0042493, GO:0035809, GO:0034620, GO:0033209, GO:0032602, GO:0030644, GO:0030433, GO:0019628, GO:0018107, GO:0009414, GO:0008380, GO:0008285, GO:0007588, GO:0007159, GO:0007157, GO:0007029, GO:0006968, GO:0006954, GO:0006914, GO:0006629, GO:0003094, GO:0003091, GO:0002251, GO:0000255, neutrophil migration, neutrophil migration, connective tissue replacement, creatinine homeostasis, apoptotic signaling pathway, protein localization to vacuole, metanephric thick ascending limb development, metanephric distal convoluted tubule development, metanephric ascending thin limb development, juxtaglomerular apparatus development, renal sodium ion absorption, chaperone-mediated protein folding, sodium ion homeostasis, calcium ion homeostasis, regulation of protein transport, defense response to Gram-negative bacterium, response to drug, regulation of urine volume, cellular response to unfolded protein, tumor necrosis factor-mediated signaling pathway, chemokine production, cellular chloride ion homeostasis, ubiquitin-dependent ERAD pathway, urate catabolic process, peptidyl-threonine phosphorylation, response to water deprivation, RNA splicing, negative regulation of cell population proliferation, excretion, leukocyte cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, endoplasmic reticulum organization, cellular defense response, inflammatory response, autophagy, lipid metabolic process, glomerular filtration, renal water homeostasis, organ or tissue specific immune response, allantoin metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000169347 chr16 20309572 20327808 - GP2 protein_coding This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 2813 GO:0070062, GO:0031225, GO:0016324, GO:0009986, GO:0005886, GO:0005615, GO:0005576, extracellular exosome, anchored component of membrane, apical plasma membrane, cell surface, plasma membrane, extracellular space, extracellular region, GO:0005201, extracellular matrix structural constituent, GO:1990266, neutrophil migration, 0 0 0 0 0 0 0 0 0 ENSG00000169359 chr3 155821024 155854456 - SLC33A1 protein_coding The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]. 9197 GO:0016020, GO:0005887, GO:0005789, GO:0000139, membrane, integral component of plasma membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0015295, GO:0008521, solute:proton symporter activity, acetyl-CoA transmembrane transporter activity, GO:1902600, GO:0060395, GO:0055085, GO:0030509, GO:0015876, proton transmembrane transport, SMAD protein signal transduction, transmembrane transport, BMP signaling pathway, acetyl-CoA transport, 11 26 24 46 26 55 33 25 42 ENSG00000169371 chr15 75598083 75626469 - SNUPN protein_coding The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 10073 GO:0005829, GO:0005643, cytosol, nuclear pore, GO:0061608, GO:0005515, GO:0000339, nuclear import signal receptor activity, protein binding, RNA cap binding, GO:0061015, GO:0051170, GO:0006606, GO:0000387, snRNA import into nucleus, import into nucleus, protein import into nucleus, spliceosomal snRNP assembly, 13 9 18 14 11 13 7 6 9 ENSG00000169372 chr12 93677375 93894840 + CRADD protein_coding This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 8738 GO:0005829, GO:0005737, GO:0005737, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, GO:0070513, GO:0030674, GO:0005515, GO:0002020, GO:0002020, death domain binding, protein-macromolecule adaptor activity, protein binding, protease binding, protease binding, GO:2001235, GO:0097190, GO:0071260, GO:0071260, GO:0043065, GO:0042981, GO:0008625, GO:0006977, GO:0006977, GO:0006919, positive regulation of apoptotic signaling pathway, apoptotic signaling pathway, cellular response to mechanical stimulus, cellular response to mechanical stimulus, positive regulation of apoptotic process, regulation of apoptotic process, extrinsic apoptotic signaling pathway via death domain receptors, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, activation of cysteine-type endopeptidase activity involved in apoptotic process, 64 63 57 33 53 50 56 35 22 ENSG00000169375 chr15 75369379 75455842 - SIN3A protein_coding The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]. 25942 GO:0017053, GO:0016580, GO:0016580, GO:0016580, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000776, GO:0000118, transcription repressor complex, Sin3 complex, Sin3 complex, Sin3 complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, kinetochore, histone deacetylase complex, GO:0140416, GO:0005515, GO:0004407, GO:0003714, GO:0003682, GO:0003677, GO:0001103, GO:0001102, transcription regulator inhibitor activity, protein binding, histone deacetylase activity, transcription corepressor activity, chromatin binding, DNA binding, RNA polymerase II repressing transcription factor binding, RNA polymerase II activating transcription factor binding, GO:2000678, GO:1901675, GO:1900181, GO:0071333, GO:0051595, GO:0048511, GO:0045944, GO:0045892, GO:0045666, GO:0045652, GO:0043066, GO:0042754, GO:0034613, GO:0031937, GO:0030516, GO:0021895, GO:0019216, GO:0016575, GO:0010971, GO:0006476, GO:0006260, GO:0002244, GO:0002230, GO:0002218, GO:0001701, GO:0000122, GO:0000122, negative regulation of transcription regulatory region DNA binding, negative regulation of histone H3-K27 acetylation, negative regulation of protein localization to nucleus, cellular response to glucose stimulus, response to methylglyoxal, rhythmic process, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of neuron differentiation, regulation of megakaryocyte differentiation, negative regulation of apoptotic process, negative regulation of circadian rhythm, cellular protein localization, positive regulation of chromatin silencing, regulation of axon extension, cerebral cortex neuron differentiation, regulation of lipid metabolic process, histone deacetylation, positive regulation of G2/M transition of mitotic cell cycle, protein deacetylation, DNA replication, hematopoietic progenitor cell differentiation, positive regulation of defense response to virus by host, activation of innate immune response, in utero embryonic development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2291 1827 3750 588 689 1023 695 564 713 ENSG00000169379 chr3 93980139 94055668 + ARL13B protein_coding This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 200894 GO:0097730, GO:0060170, GO:0060170, GO:0031514, GO:0005930, GO:0005929, GO:0005929, GO:0005929, non-motile cilium, ciliary membrane, ciliary membrane, motile cilium, axoneme, cilium, cilium, cilium, GO:0005525, GO:0005515, GTP binding, protein binding, GO:1905515, GO:1905515, GO:0097500, GO:0070986, GO:0060271, GO:0021943, GO:0021830, GO:0021532, GO:0010226, GO:0009953, GO:0007224, GO:0001947, non-motile cilium assembly, non-motile cilium assembly, receptor localization to non-motile cilium, left/right axis specification, cilium assembly, formation of radial glial scaffolds, interneuron migration from the subpallium to the cortex, neural tube patterning, response to lithium ion, dorsal/ventral pattern formation, smoothened signaling pathway, heart looping, 79 48 136 80 27 72 51 27 44 ENSG00000169385 chr14 20955452 20956436 + RNASE2 protein_coding The protein encoded by this gene is a non-secretory ribonuclease that belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein antimicrobial activity against viruses. [provided by RefSeq, Oct 2014]. 6036 GO:0070062, GO:0035578, GO:0005615, GO:0005576, extracellular exosome, azurophil granule lumen, extracellular space, extracellular region, GO:0016829, GO:0005515, GO:0004540, GO:0004540, GO:0004522, GO:0003676, GO:0001530, lyase activity, protein binding, ribonuclease activity, ribonuclease activity, ribonuclease A activity, nucleic acid binding, lipopolysaccharide binding, GO:0090502, GO:0090501, GO:0051607, GO:0050830, GO:0050829, GO:0043312, GO:0043152, GO:0006935, GO:0006935, GO:0006401, GO:0002227, RNA phosphodiester bond hydrolysis, endonucleolytic, RNA phosphodiester bond hydrolysis, defense response to virus, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, neutrophil degranulation, induction of bacterial agglutination, chemotaxis, chemotaxis, RNA catabolic process, innate immune response in mucosa, 18 56 8 0 15 3 0 8 0 ENSG00000169393 chr19 47994651 48025153 + ELSPBP1 protein_coding The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]. 64100 GO:0009986, GO:0005576, cell surface, extracellular region, GO:0008201, heparin binding, GO:0048240, GO:0007338, sperm capacitation, single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000169397 chr14 20891399 20892348 + RNASE3 protein_coding The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein exhibits antimicrobial activity against pathogenic bacteria [provided by RefSeq, Oct 2014]. 6037 GO:0035578, GO:0005615, GO:0005615, GO:0005576, azurophil granule lumen, extracellular space, extracellular space, extracellular region, GO:0004540, GO:0004519, GO:0003676, GO:0001530, ribonuclease activity, endonuclease activity, nucleic acid binding, lipopolysaccharide binding, GO:0090501, GO:0061844, GO:0050830, GO:0050829, GO:0045087, GO:0043312, GO:0043152, GO:0019731, GO:0019730, GO:0006935, GO:0006401, GO:0002227, GO:0002227, RNA phosphodiester bond hydrolysis, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, neutrophil degranulation, induction of bacterial agglutination, antibacterial humoral response, antimicrobial humoral response, chemotaxis, RNA catabolic process, innate immune response in mucosa, innate immune response in mucosa, 5 16 7 1 3 0 9 2 0 ENSG00000169398 chr8 140657900 141002216 - PTK2 protein_coding This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]. 5747 GO:0043231, GO:0043197, GO:0036064, GO:0031234, GO:0030027, GO:0016324, GO:0005938, GO:0005925, GO:0005925, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0001725, intracellular membrane-bounded organelle, dendritic spine, ciliary basal body, extrinsic component of cytoplasmic side of plasma membrane, lamellipodium, apical plasma membrane, cell cortex, focal adhesion, focal adhesion, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, nucleus, stress fiber, GO:0042169, GO:0019903, GO:0019901, GO:0008432, GO:0005524, GO:0005515, GO:0005178, GO:0005102, GO:0004715, GO:0004715, GO:0004713, GO:0004713, GO:0004672, GO:0003779, SH2 domain binding, protein phosphatase binding, protein kinase binding, JUN kinase binding, ATP binding, protein binding, integrin binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, actin binding, GO:2000811, GO:2000060, GO:1900024, GO:0120041, GO:0090303, GO:0060396, GO:0051964, GO:0051897, GO:0051893, GO:0051893, GO:0051493, GO:0050771, GO:0048870, GO:0048013, GO:0048013, GO:0048010, GO:0046777, GO:0046621, GO:0045860, GO:0045667, GO:0045087, GO:0043552, GO:0043542, GO:0043087, GO:0043066, GO:0042127, GO:0042127, GO:0038096, GO:0038083, GO:0038007, GO:0035995, GO:0033628, GO:0030335, GO:0030198, GO:0030155, GO:0030154, GO:0030010, GO:0022408, GO:0021955, GO:0018108, GO:0014068, GO:0010763, GO:0010759, GO:0010632, GO:0010613, GO:0010594, GO:0010507, GO:0008360, GO:0008284, GO:0007411, GO:0007229, GO:0007229, GO:0007229, GO:0007179, GO:0007173, GO:0007172, GO:0007169, GO:0007097, GO:0003007, GO:0001934, GO:0001932, GO:0001890, GO:0001764, GO:0001570, GO:0001525, GO:0001525, GO:0000226, GO:0000165, negative regulation of anoikis, positive regulation of ubiquitin-dependent protein catabolic process, regulation of substrate adhesion-dependent cell spreading, positive regulation of macrophage proliferation, positive regulation of wound healing, growth hormone receptor signaling pathway, negative regulation of synapse assembly, positive regulation of protein kinase B signaling, regulation of focal adhesion assembly, regulation of focal adhesion assembly, regulation of cytoskeleton organization, negative regulation of axonogenesis, cell motility, ephrin receptor signaling pathway, ephrin receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, negative regulation of organ growth, positive regulation of protein kinase activity, regulation of osteoblast differentiation, innate immune response, positive regulation of phosphatidylinositol 3-kinase activity, endothelial cell migration, regulation of GTPase activity, negative regulation of apoptotic process, regulation of cell population proliferation, regulation of cell population proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, peptidyl-tyrosine autophosphorylation, netrin-activated signaling pathway, detection of muscle stretch, regulation of cell adhesion mediated by integrin, positive regulation of cell migration, extracellular matrix organization, regulation of cell adhesion, cell differentiation, establishment of cell polarity, negative regulation of cell-cell adhesion, central nervous system neuron axonogenesis, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of fibroblast migration, positive regulation of macrophage chemotaxis, regulation of epithelial cell migration, positive regulation of cardiac muscle hypertrophy, regulation of endothelial cell migration, negative regulation of autophagy, regulation of cell shape, positive regulation of cell population proliferation, axon guidance, integrin-mediated signaling pathway, integrin-mediated signaling pathway, integrin-mediated signaling pathway, transforming growth factor beta receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal complex assembly, transmembrane receptor protein tyrosine kinase signaling pathway, nuclear migration, heart morphogenesis, positive regulation of protein phosphorylation, regulation of protein phosphorylation, placenta development, neuron migration, vasculogenesis, angiogenesis, angiogenesis, microtubule cytoskeleton organization, MAPK cascade, 6 5 2 17 4 24 13 6 4 ENSG00000169402 chr7 6754109 6799365 + RSPH10B2 protein_coding This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [provided by RefSeq, Jul 2017]. 728194 9 16 8 5 58 18 12 23 7 ENSG00000169403 chr1 28147166 28193936 - PTAFR protein_coding This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 5724 GO:0070821, GO:0030667, GO:0016021, GO:0016020, GO:0005887, GO:0005886, tertiary granule membrane, secretory granule membrane, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, GO:0051019, GO:0045028, GO:0005543, GO:0005515, GO:0004992, GO:0004930, GO:0001875, GO:0001530, mitogen-activated protein kinase binding, G protein-coupled purinergic nucleotide receptor activity, phospholipid binding, protein binding, platelet activating factor receptor activity, G protein-coupled receptor activity, lipopolysaccharide immune receptor activity, lipopolysaccharide binding, GO:1904317, GO:1904306, GO:1904303, GO:1904300, GO:1904058, GO:1903238, GO:1902943, GO:0097755, GO:0071548, GO:0071398, GO:0071320, GO:0071258, GO:0060732, GO:0060333, GO:0048661, GO:0048015, GO:0045907, GO:0045776, GO:0045727, GO:0045056, GO:0043315, GO:0043312, GO:0035589, GO:0032959, GO:0032760, GO:0031663, GO:0019221, GO:0010863, GO:0009609, GO:0007567, GO:0007186, GO:0007186, GO:0007186, GO:0006955, GO:0006954, GO:0006935, GO:0006357, GO:0001816, cellular response to 2-O-acetyl-1-O-hexadecyl-sn-glycero-3-phosphocholine, positive regulation of gastro-intestinal system smooth muscle contraction, positive regulation of maternal process involved in parturition, positive regulation of transcytosis, positive regulation of sensory perception of pain, positive regulation of leukocyte tethering or rolling, positive regulation of voltage-gated chloride channel activity, positive regulation of blood vessel diameter, response to dexamethasone, cellular response to fatty acid, cellular response to cAMP, cellular response to gravity, positive regulation of inositol phosphate biosynthetic process, interferon-gamma-mediated signaling pathway, positive regulation of smooth muscle cell proliferation, phosphatidylinositol-mediated signaling, positive regulation of vasoconstriction, negative regulation of blood pressure, positive regulation of translation, transcytosis, positive regulation of neutrophil degranulation, neutrophil degranulation, G protein-coupled purinergic nucleotide receptor signaling pathway, inositol trisphosphate biosynthetic process, positive regulation of tumor necrosis factor production, lipopolysaccharide-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of phospholipase C activity, response to symbiotic bacterium, parturition, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, inflammatory response, chemotaxis, regulation of transcription by RNA polymerase II, cytokine production, 9288 8721 18783 1215 4020 2459 2090 3604 2446 ENSG00000169410 chr15 75463251 75579289 - PTPN9 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008]. 5780 GO:0044306, GO:0005737, GO:0005654, neuron projection terminus, cytoplasm, nucleoplasm, GO:0005515, GO:0004726, GO:0004725, GO:0004725, protein binding, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1903078, GO:0071345, GO:0035335, GO:0010977, GO:0006470, positive regulation of protein localization to plasma membrane, cellular response to cytokine stimulus, peptidyl-tyrosine dephosphorylation, negative regulation of neuron projection development, protein dephosphorylation, 46 53 80 42 55 69 41 27 61 ENSG00000169413 chr14 20781051 20782467 + RNASE6 protein_coding The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]. 6039 GO:0031410, GO:0005764, GO:0005615, GO:0005615, GO:0005576, cytoplasmic vesicle, lysosome, extracellular space, extracellular space, extracellular region, GO:0004540, GO:0004540, GO:0004519, GO:0003676, ribonuclease activity, ribonuclease activity, endonuclease activity, nucleic acid binding, GO:0090501, GO:0061844, GO:0061844, GO:0051607, GO:0051607, GO:0050830, GO:0050830, GO:0050829, GO:0050829, GO:0045087, GO:0045087, GO:0019731, GO:0019731, GO:0019730, GO:0006952, GO:0006401, RNA phosphodiester bond hydrolysis, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to virus, defense response to virus, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, innate immune response, innate immune response, antibacterial humoral response, antibacterial humoral response, antimicrobial humoral response, defense response, RNA catabolic process, 198 588 504 73 717 343 153 651 322 ENSG00000169418 chr1 153678637 153693992 + NPR1 protein_coding Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]. 4881 GO:0043235, GO:0016021, GO:0005886, GO:0005886, receptor complex, integral component of membrane, plasma membrane, plasma membrane, GO:0042562, GO:0019901, GO:0017046, GO:0017046, GO:0016941, GO:0016941, GO:0008528, GO:0005525, GO:0005524, GO:0004672, GO:0004383, GO:0004383, GO:0001653, hormone binding, protein kinase binding, peptide hormone binding, peptide hormone binding, natriuretic peptide receptor activity, natriuretic peptide receptor activity, G protein-coupled peptide receptor activity, GTP binding, ATP binding, protein kinase activity, guanylate cyclase activity, guanylate cyclase activity, peptide receptor activity, GO:1903779, GO:0097746, GO:0048662, GO:0043114, GO:0042417, GO:0035815, GO:0035810, GO:0030308, GO:0019934, GO:0016525, GO:0010753, GO:0008217, GO:0007589, GO:0007186, GO:0007168, GO:0007168, GO:0007166, GO:0007165, GO:0006468, GO:0006182, GO:0006182, regulation of cardiac conduction, blood vessel diameter maintenance, negative regulation of smooth muscle cell proliferation, regulation of vascular permeability, dopamine metabolic process, positive regulation of renal sodium excretion, positive regulation of urine volume, negative regulation of cell growth, cGMP-mediated signaling, negative regulation of angiogenesis, positive regulation of cGMP-mediated signaling, regulation of blood pressure, body fluid secretion, G protein-coupled receptor signaling pathway, receptor guanylyl cyclase signaling pathway, receptor guanylyl cyclase signaling pathway, cell surface receptor signaling pathway, signal transduction, protein phosphorylation, cGMP biosynthetic process, cGMP biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000169427 chr8 139600838 139704109 - KCNK9 protein_coding This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. 51305 GO:0008021, GO:0005887, GO:0005886, GO:0005886, synaptic vesicle, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0022841, GO:0005267, GO:0005249, potassium ion leak channel activity, potassium channel activity, voltage-gated potassium channel activity, GO:1990573, GO:0071805, GO:0030322, GO:0006813, potassium ion import across plasma membrane, potassium ion transmembrane transport, stabilization of membrane potential, potassium ion transport, 1 0 0 0 0 0 0 0 0 ENSG00000169429 chr4 73740506 73743716 + CXCL8 protein_coding The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is commonly referred to as interleukin-8 (IL-8). IL-8 is secreted by mononuclear macrophages, neutrophils, eosinophils, T lymphocytes, epithelial cells, and fibroblasts. It functions as a chemotactic factor by guiding the neutrophils to the site of infection. Bacterial and viral products rapidly induce IL-8 expression. IL-8 also participates with other cytokines in the proinflammatory signaling cascade and plays a role in systemic inflammatory response syndrome (SIRS). This gene is believed to play a role in the pathogenesis of the lower respiratory tract infection bronchiolitis, a common respiratory tract disease caused by the respiratory syncytial virus (RSV). The overproduction of this proinflammatory protein is thought to cause the lung inflammation associated with csytic fibrosis. This proinflammatory protein is also suspected of playing a role in coronary artery disease and endothelial dysfunction. This protein is also secreted by tumor cells and promotes tumor migration, invasion, angiogenesis and metastasis. This chemokine is also a potent angiogenic factor. The binding of IL-8 to one of its receptors (IL-8RB/CXCR2) increases the permeability of blood vessels and increasing levels of IL-8 are positively correlated with increased severity of multiple disease outcomes (eg, sepsis). This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, May 2020]. 3576 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0045236, GO:0008009, GO:0008009, GO:0008009, GO:0005515, GO:0005153, CXCR chemokine receptor binding, chemokine activity, chemokine activity, chemokine activity, protein binding, interleukin-8 receptor binding, GO:2000535, GO:0090023, GO:0071356, GO:0071347, GO:0071222, GO:0071222, GO:0070098, GO:0061844, GO:0060354, GO:0050930, GO:0048566, GO:0045766, GO:0045744, GO:0045091, GO:0044344, GO:0042119, GO:0042119, GO:0036499, GO:0035556, GO:0034976, GO:0031623, GO:0031328, GO:0030593, GO:0030593, GO:0030593, GO:0030155, GO:0019722, GO:0019221, GO:0010629, GO:0010628, GO:0008285, GO:0007186, GO:0007165, GO:0007050, GO:0006954, GO:0006954, GO:0006935, GO:0002237, GO:0001525, regulation of entry of bacterium into host cell, positive regulation of neutrophil chemotaxis, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, negative regulation of cell adhesion molecule production, induction of positive chemotaxis, embryonic digestive tract development, positive regulation of angiogenesis, negative regulation of G protein-coupled receptor signaling pathway, regulation of single stranded viral RNA replication via double stranded DNA intermediate, cellular response to fibroblast growth factor stimulus, neutrophil activation, neutrophil activation, PERK-mediated unfolded protein response, intracellular signal transduction, response to endoplasmic reticulum stress, receptor internalization, positive regulation of cellular biosynthetic process, neutrophil chemotaxis, neutrophil chemotaxis, neutrophil chemotaxis, regulation of cell adhesion, calcium-mediated signaling, cytokine-mediated signaling pathway, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cell population proliferation, G protein-coupled receptor signaling pathway, signal transduction, cell cycle arrest, inflammatory response, inflammatory response, chemotaxis, response to molecule of bacterial origin, angiogenesis, 18373 41791 47226 132290 227887 336603 243065 297391 348716 ENSG00000169432 chr2 166195185 166376001 - SCN9A protein_coding This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]. 6335 GO:0030424, GO:0030424, GO:0005887, GO:0001518, axon, axon, integral component of plasma membrane, voltage-gated sodium channel complex, GO:0031402, GO:0005248, GO:0005248, GO:0005244, sodium ion binding, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0086010, GO:0048266, GO:0035725, GO:0035725, GO:0034765, GO:0019233, GO:0019228, GO:0009791, GO:0009636, GO:0006954, GO:0006814, membrane depolarization during action potential, behavioral response to pain, sodium ion transmembrane transport, sodium ion transmembrane transport, regulation of ion transmembrane transport, sensory perception of pain, neuronal action potential, post-embryonic development, response to toxic substance, inflammatory response, sodium ion transport, 46 12 12 30 16 23 25 15 23 ENSG00000169435 chr4 73571550 73620631 - RASSF6 protein_coding This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. 166824 GO:0005515, protein binding, GO:0042981, GO:0007165, GO:0007165, GO:0006915, regulation of apoptotic process, signal transduction, signal transduction, apoptotic process, 0 2 3 0 5 9 0 2 0 ENSG00000169436 chr8 138588235 138914006 - COL22A1 protein_coding This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]. 169044 GO:0031012, GO:0005788, GO:0005615, GO:0005581, GO:0005576, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen trimer, extracellular region, GO:0005201, extracellular matrix structural constituent, GO:0030198, GO:0001886, GO:0001525, extracellular matrix organization, endothelial cell morphogenesis, angiogenesis, 0 0 3 0 0 6 0 0 3 ENSG00000169439 chr8 96493351 96611780 + SDC2 protein_coding The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]. 6383 GO:0062023, GO:0043202, GO:0016021, GO:0009986, GO:0005886, GO:0005796, GO:0005788, collagen-containing extracellular matrix, lysosomal lumen, integral component of membrane, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, GO:0042802, GO:0030165, GO:0005515, identical protein binding, PDZ domain binding, protein binding, GO:0050900, GO:0048814, GO:0048813, GO:0048013, GO:0044267, GO:0043687, GO:0016477, GO:0008150, GO:0006027, GO:0006024, GO:0001523, leukocyte migration, regulation of dendrite morphogenesis, dendrite morphogenesis, ephrin receptor signaling pathway, cellular protein metabolic process, post-translational protein modification, cell migration, biological_process, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, retinoid metabolic process, 148 218 80 23 145 20 39 143 15 ENSG00000169442 chr1 26317957 26320523 + CD52 protein_coding 1043 GO:0097225, GO:0031226, GO:0031225, GO:0016020, GO:0005886, GO:0005576, sperm midpiece, intrinsic component of plasma membrane, anchored component of membrane, membrane, plasma membrane, extracellular region, GO:0045730, GO:0007204, GO:0007204, respiratory burst, positive regulation of cytosolic calcium ion concentration, positive regulation of cytosolic calcium ion concentration, 201 215 479 700 328 926 488 313 592 ENSG00000169446 chrX 135962070 135974063 - MMGT1 protein_coding 93380 GO:0072546, GO:0072546, GO:0031901, GO:0016021, GO:0016020, GO:0005886, GO:0005794, GO:0005794, GO:0005769, GO:0005769, GO:0000139, endoplasmic reticulum membrane protein complex, endoplasmic reticulum membrane protein complex, early endosome membrane, integral component of membrane, membrane, plasma membrane, Golgi apparatus, Golgi apparatus, early endosome, early endosome, Golgi membrane, GO:0022890, GO:0015095, GO:0015093, GO:0015087, GO:0005515, inorganic cation transmembrane transporter activity, magnesium ion transmembrane transporter activity, ferrous iron transmembrane transporter activity, cobalt ion transmembrane transporter activity, protein binding, GO:1903830, GO:0034755, GO:0015693, GO:0006825, GO:0006824, magnesium ion transmembrane transport, iron ion transmembrane transport, magnesium ion transport, copper ion transport, cobalt ion transport, 348 324 432 232 215 279 263 219 257 ENSG00000169469 chr1 153031202 153032900 + SPRR1B protein_coding The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015]. 6699 GO:0005829, GO:0005737, GO:0001533, GO:0001533, cytosol, cytoplasm, cornified envelope, cornified envelope, GO:0005198, structural molecule activity, GO:0070268, GO:0030216, GO:0018149, GO:0008544, cornification, keratinocyte differentiation, peptide cross-linking, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000169474 chr1 152985231 152985500 + SPRR1A protein_coding 6698 GO:0005829, GO:0001533, GO:0001533, cytosol, cornified envelope, cornified envelope, GO:0030280, GO:0005515, GO:0005198, structural constituent of skin epidermis, protein binding, structural molecule activity, GO:0070268, GO:0030216, GO:0018149, GO:0008544, cornification, keratinocyte differentiation, peptide cross-linking, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000169484 chr14 20014143 20019307 - OR4K14 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 122740 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169488 chr14 19975444 19976659 + OR4K15 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81127 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169490 chr8 38988808 38996824 - TM2D2 protein_coding The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]. 83877 GO:0016021, integral component of membrane, GO:0005515, protein binding, 46 48 60 47 32 30 22 29 17 ENSG00000169495 chr8 38974164 38988662 + HTRA4 protein_coding This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008]. 203100 GO:0005576, extracellular region, GO:0042802, GO:0005520, GO:0005515, GO:0004252, GO:0004175, identical protein binding, insulin-like growth factor binding, protein binding, serine-type endopeptidase activity, endopeptidase activity, GO:0030512, GO:0006508, negative regulation of transforming growth factor beta receptor signaling pathway, proteolysis, 1 0 2 13 2 6 11 5 1 ENSG00000169499 chr8 38901235 38973909 + PLEKHA2 protein_coding 59339 GO:0032991, GO:0016020, GO:0016020, GO:0005886, GO:0005737, GO:0005737, GO:0005634, protein-containing complex, membrane, membrane, plasma membrane, cytoplasm, cytoplasm, nucleus, GO:0043325, GO:0043236, GO:0030165, GO:0005515, GO:0001968, phosphatidylinositol-3,4-bisphosphate binding, laminin binding, PDZ domain binding, protein binding, fibronectin binding, GO:0006661, GO:0001954, phosphatidylinositol biosynthetic process, positive regulation of cell-matrix adhesion, 1390 1276 2081 749 839 1269 781 673 972 ENSG00000169504 chr1 24745357 24844324 + CLIC4 protein_coding Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008]. 25932 GO:0070062, GO:0048471, GO:0045177, GO:0034707, GO:0030659, GO:0030496, GO:0016363, GO:0015630, GO:0015629, GO:0009986, GO:0005911, GO:0005902, GO:0005886, GO:0005829, GO:0005813, GO:0005739, GO:0005739, GO:0005737, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, apical part of cell, chloride channel complex, cytoplasmic vesicle membrane, midbody, nuclear matrix, microtubule cytoskeleton, actin cytoskeleton, cell surface, cell-cell junction, microvillus, plasma membrane, cytosol, centrosome, mitochondrion, mitochondrion, cytoplasm, nucleus, GO:0005515, GO:0005254, GO:0005244, protein binding, chloride channel activity, voltage-gated ion channel activity, GO:1902476, GO:0071277, GO:0061299, GO:0051493, GO:0048754, GO:0035264, GO:0035088, GO:0034765, GO:0030336, GO:0030216, GO:0030154, GO:0009566, GO:0007035, GO:0006821, GO:0001886, GO:0001525, chloride transmembrane transport, cellular response to calcium ion, retina vasculature morphogenesis in camera-type eye, regulation of cytoskeleton organization, branching morphogenesis of an epithelial tube, multicellular organism growth, establishment or maintenance of apical/basal cell polarity, regulation of ion transmembrane transport, negative regulation of cell migration, keratinocyte differentiation, cell differentiation, fertilization, vacuolar acidification, chloride transport, endothelial cell morphogenesis, angiogenesis, 147 154 236 26 89 38 49 83 22 ENSG00000169507 chr2 164896186 164955525 - SLC38A11 protein_coding 151258 GO:0016021, integral component of membrane, GO:0015171, GO:0005515, amino acid transmembrane transporter activity, protein binding, GO:0006814, GO:0003333, sodium ion transport, amino acid transmembrane transport, 0 0 0 0 2 16 0 0 0 ENSG00000169508 chr13 99294530 99307405 - GPR183 protein_coding This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]. 1880 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0008142, GO:0008142, GO:0004930, GO:0004930, oxysterol binding, oxysterol binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:2000458, GO:0070374, GO:0061470, GO:0036145, GO:0030890, GO:0030595, GO:0030316, GO:0010818, GO:0007186, GO:0007186, GO:0006959, GO:0006955, GO:0002407, GO:0002313, GO:0002312, GO:0002250, regulation of astrocyte chemotaxis, positive regulation of ERK1 and ERK2 cascade, T follicular helper cell differentiation, dendritic cell homeostasis, positive regulation of B cell proliferation, leukocyte chemotaxis, osteoclast differentiation, T cell chemotaxis, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, humoral immune response, immune response, dendritic cell chemotaxis, mature B cell differentiation involved in immune response, B cell activation involved in immune response, adaptive immune response, 233 181 342 522 432 732 706 468 609 ENSG00000169509 chr1 152514502 152516010 + CRCT1 protein_coding 54544 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000169515 chr19 46410329 46413662 - CCDC8 protein_coding This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]. 83987 GO:1990393, GO:1990393, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, 3M complex, 3M complex, plasma membrane, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:0043687, GO:0010923, GO:0007088, GO:0007088, GO:0000226, GO:0000226, post-translational protein modification, negative regulation of phosphatase activity, regulation of mitotic nuclear division, regulation of mitotic nuclear division, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000169519 chr11 28108248 28527041 + METTL15 protein_coding 196074 GO:0005759, mitochondrial matrix, GO:0071424, rRNA (cytosine-N4-)-methyltransferase activity, GO:0070475, rRNA base methylation, 25 29 58 58 30 80 49 23 27 ENSG00000169548 chr22 22513736 22520270 - ZNF280A protein_coding This gene encodes a zinc finger protein. The encoded protein contains 4 C2H2-type zinc fingers, which are commonly found in transcription factors. A variety of functions may be performed by this type of zinc finger protein, including the binding of DNA or RNA. [provided by RefSeq, Apr 2014]. 129025 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000169550 chr11 26559033 26572233 - MUC15 protein_coding 143662 GO:0016021, GO:0005886, GO:0005796, GO:0005576, integral component of membrane, plasma membrane, Golgi lumen, extracellular region, GO:0005515, protein binding, GO:0016266, GO:0002223, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169551 chrX 135156536 135171398 - CT55 protein_coding 54967 GO:0005515, protein binding, 0 0 0 0 0 1 0 0 0 ENSG00000169554 chr2 144364364 144524583 - ZEB2 protein_coding The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]. 9839 GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, cytosol, nucleolus, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0070412, GO:0046872, GO:0043565, GO:0019208, GO:0005515, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, R-SMAD binding, metal ion binding, sequence-specific DNA binding, phosphatase regulator activity, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903056, GO:1902748, GO:0097324, GO:0061373, GO:0050772, GO:0048856, GO:0048668, GO:0048066, GO:0048023, GO:0045944, GO:0045636, GO:0043507, GO:0030177, GO:0021957, GO:0021846, GO:0021766, GO:0021540, GO:0007399, GO:0006357, GO:0001843, GO:0001756, GO:0001755, GO:0000122, GO:0000122, regulation of melanosome organization, positive regulation of lens fiber cell differentiation, melanocyte migration, mammillary axonal complex development, positive regulation of axonogenesis, anatomical structure development, collateral sprouting, developmental pigmentation, positive regulation of melanin biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of melanocyte differentiation, positive regulation of JUN kinase activity, positive regulation of Wnt signaling pathway, corticospinal tract morphogenesis, cell proliferation in forebrain, hippocampus development, corpus callosum morphogenesis, nervous system development, regulation of transcription by RNA polymerase II, neural tube closure, somitogenesis, neural crest cell migration, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1673 2129 2625 1025 1422 1722 1625 1360 1529 ENSG00000169562 chrX 71215194 71225516 + GJB1 protein_coding This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]. 2705 GO:0016021, GO:0005922, GO:0005789, integral component of membrane, connexin complex, endoplasmic reticulum membrane, GO:0005515, GO:0005243, GO:0005243, protein binding, gap junction channel activity, gap junction channel activity, GO:0055085, GO:0016264, GO:0007399, GO:0007267, transmembrane transport, gap junction assembly, nervous system development, cell-cell signaling, 0 0 0 0 0 0 0 0 0 ENSG00000169564 chr2 70087454 70089203 + PCBP1 protein_coding This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008]. 5093 GO:0070062, GO:0036464, GO:0016607, GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, cytoplasmic ribonucleoprotein granule, nuclear speck, membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0098847, GO:0045296, GO:0005515, GO:0003729, GO:0003729, GO:0003723, GO:0003723, GO:0003697, GO:0003697, GO:0000981, sequence-specific single stranded DNA binding, cadherin binding, protein binding, mRNA binding, mRNA binding, RNA binding, RNA binding, single-stranded DNA binding, single-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0051252, GO:0045944, GO:0039694, GO:0016070, GO:0010468, GO:0000398, regulation of RNA metabolic process, positive regulation of transcription by RNA polymerase II, viral RNA genome replication, RNA metabolic process, regulation of gene expression, mRNA splicing, via spliceosome, 7197 7578 8465 2454 4936 3383 3123 5231 3855 ENSG00000169567 chr5 131159027 131171735 - HINT1 protein_coding This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]. 3094 GO:0070062, GO:0005886, GO:0005856, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000118, extracellular exosome, plasma membrane, cytoskeleton, cytosol, cytoplasm, nucleoplasm, nucleus, histone deacetylase complex, GO:0043530, GO:0016787, GO:0016787, GO:0005515, GO:0005080, GO:0000166, adenosine 5'-monophosphoramidase activity, hydrolase activity, hydrolase activity, protein binding, protein kinase C binding, nucleotide binding, GO:0072332, GO:0050850, GO:0009154, GO:0009154, GO:0007165, GO:0006355, intrinsic apoptotic signaling pathway by p53 class mediator, positive regulation of calcium-mediated signaling, purine ribonucleotide catabolic process, purine ribonucleotide catabolic process, signal transduction, regulation of transcription, DNA-templated, 168 110 219 253 117 279 214 109 299 ENSG00000169570 chr5 118837322 118988545 - DTWD2 protein_coding 285605 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0016432, tRNA-uridine aminocarboxypropyltransferase activity, GO:0006400, tRNA modification, 9 9 26 24 9 24 23 5 15 ENSG00000169575 chr22 22244675 22245515 + VPREB1 protein_coding The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 7441 GO:0005783, GO:0005615, GO:0005576, endoplasmic reticulum, extracellular space, extracellular region, GO:0050900, GO:0006955, GO:0002377, leukocyte migration, immune response, immunoglobulin production, 0 0 0 0 0 0 0 0 0 ENSG00000169583 chr9 136994635 136996803 - CLIC3 protein_coding Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008]. 9022 GO:0070062, GO:0034707, GO:0016604, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, chloride channel complex, nuclear body, cytoplasm, nucleus, nucleus, GO:0005515, GO:0005254, GO:0005254, GO:0005244, protein binding, chloride channel activity, chloride channel activity, voltage-gated ion channel activity, GO:1902476, GO:0034765, GO:0007165, GO:0006821, chloride transmembrane transport, regulation of ion transmembrane transport, signal transduction, chloride transport, 3 3 3 19 13 35 17 15 15 ENSG00000169592 chr16 29995294 30005793 + INO80E protein_coding 283899 GO:0031011, GO:0031011, GO:0005730, GO:0005654, GO:0005654, Ino80 complex, Ino80 complex, nucleolus, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0016579, GO:0006338, GO:0006310, GO:0006281, protein deubiquitination, chromatin remodeling, DNA recombination, DNA repair, 290 225 343 271 259 330 373 274 217 ENSG00000169594 chr15 83255903 83284714 - BNC1 protein_coding This gene encodes a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Disruption of this gene has been implicated in premature ovarian failure as well as testicular premature aging. [provided by RefSeq, Sep 2020]. 646 GO:0043231, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0001216, GO:0000976, GO:0000182, metal ion binding, DNA-binding transcription activator activity, transcription regulatory region sequence-specific DNA binding, rDNA binding, GO:1900195, GO:0045943, GO:0030154, GO:0008544, GO:0008284, GO:0007283, GO:0006356, GO:0006355, positive regulation of oocyte maturation, positive regulation of transcription by RNA polymerase I, cell differentiation, epidermis development, positive regulation of cell population proliferation, spermatogenesis, regulation of transcription by RNA polymerase I, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000169598 chr1 3857267 3885429 + DFFB protein_coding Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]. 1677 GO:0032991, GO:0005829, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, protein-containing complex, cytosol, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0097718, GO:0042802, GO:0019904, GO:0019899, GO:0005515, GO:0004536, GO:0004536, disordered domain specific binding, identical protein binding, protein domain specific binding, enzyme binding, protein binding, deoxyribonuclease activity, deoxyribonuclease activity, GO:0030263, GO:0006309, GO:0006309, GO:0006309, GO:0006308, apoptotic chromosome condensation, apoptotic DNA fragmentation, apoptotic DNA fragmentation, apoptotic DNA fragmentation, DNA catabolic process, 30 32 29 52 69 83 46 62 29 ENSG00000169599 chr2 69395750 69437628 - NFU1 protein_coding This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 27247 GO:0005829, GO:0005739, GO:0005739, GO:0005654, GO:0005634, cytosol, mitochondrion, mitochondrion, nucleoplasm, nucleus, GO:0051539, GO:0051539, GO:0005515, GO:0005506, GO:0005506, 4 iron, 4 sulfur cluster binding, 4 iron, 4 sulfur cluster binding, protein binding, iron ion binding, iron ion binding, GO:0097428, GO:0016226, GO:0016226, protein maturation by iron-sulfur cluster transfer, iron-sulfur cluster assembly, iron-sulfur cluster assembly, 23 15 41 54 55 55 17 29 26 ENSG00000169604 chr2 69013178 69249327 + ANTXR1 protein_coding This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]. 84168 GO:0031527, GO:0031258, GO:0016021, GO:0010008, GO:0009986, GO:0009986, GO:0009986, GO:0009897, GO:0005886, GO:0005886, filopodium membrane, lamellipodium membrane, integral component of membrane, endosome membrane, cell surface, cell surface, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, GO:0051015, GO:0046872, GO:0005518, GO:0005515, GO:0004888, GO:0004888, actin filament binding, metal ion binding, collagen binding, protein binding, transmembrane signaling receptor activity, transmembrane signaling receptor activity, GO:1905050, GO:1901998, GO:1901202, GO:0034446, GO:0031532, GO:0022414, GO:0001568, positive regulation of metallopeptidase activity, toxin transport, negative regulation of extracellular matrix assembly, substrate adhesion-dependent cell spreading, actin cytoskeleton reorganization, reproductive process, blood vessel development, 2 0 0 1 0 3 5 0 0 ENSG00000169605 chr2 68974573 68980974 + GKN1 protein_coding The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008]. 56287 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0051781, GO:0042127, GO:0007586, positive regulation of cell division, regulation of cell population proliferation, digestion, 0 0 0 0 0 0 0 0 0 ENSG00000169607 chr2 112736607 112764677 - CKAP2L protein_coding The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 150468 GO:0072686, GO:0072686, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0000922, mitotic spindle, mitotic spindle, cytosol, cytosol, centrosome, centrosome, spindle pole, 1 8 11 7 8 14 2 0 8 ENSG00000169609 chr15 82988441 83011641 - C15orf40 protein_coding 123207 GO:0005737, cytoplasm, 137 94 127 106 158 161 119 117 116 ENSG00000169612 chr15 82986207 82991057 + RAMAC protein_coding 83640 GO:0031533, GO:0031533, GO:0005845, GO:0005845, GO:0005654, GO:0005634, mRNA cap methyltransferase complex, mRNA cap methyltransferase complex, mRNA cap binding complex, mRNA cap binding complex, nucleoplasm, nucleus, GO:0005515, GO:0004482, GO:0004482, GO:0003723, GO:0003723, GO:0003723, protein binding, mRNA (guanine-N7-)-methyltransferase activity, mRNA (guanine-N7-)-methyltransferase activity, RNA binding, RNA binding, RNA binding, GO:0106005, GO:0036031, GO:0036031, GO:0032259, GO:0032259, GO:0006370, RNA 5'-cap (guanine-N7)-methylation, recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex, recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex, methylation, methylation, 7-methylguanosine mRNA capping, 155 104 107 71 129 78 89 106 114 ENSG00000169618 chr2 68643589 68658247 + PROKR1 protein_coding This gene encodes a member of the G-protein-coupled receptor family. The encoded protein binds to prokineticins (1 and 2), leading to the activation of MAPK and STAT signaling pathways. Prokineticins are protein ligands involved in angiogenesis and inflammation. The encoded protein is expressed in peripheral tissues such as those comprising the circulatory system, lungs, reproductive system, endocrine system and the gastrointestinal system. The protein may be involved in signaling in human fetal ovary during initiation of primordial follicle formation. Sequence variants in this gene may be associated with recurrent miscarriage. [provided by RefSeq, Aug 2016]. 10887 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0004983, GO:0004930, neuropeptide Y receptor activity, G protein-coupled receptor activity, GO:0007218, GO:0007186, GO:0007186, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 1 0 0 0 0 0 ENSG00000169621 chr2 68467561 68655862 + APLF protein_coding C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]. 200558 GO:0035861, GO:0035861, GO:0005829, GO:0005654, GO:0005634, GO:0005634, site of double-strand break, site of double-strand break, cytosol, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0008408, GO:0005515, GO:0004520, GO:0003906, GO:0003906, GO:0000166, metal ion binding, 3'-5' exonuclease activity, protein binding, endodeoxyribonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, DNA-(apurinic or apyrimidinic site) endonuclease activity, nucleotide binding, GO:0090305, GO:0051106, GO:0045191, GO:0006974, GO:0006302, GO:0006302, GO:0000012, nucleic acid phosphodiester bond hydrolysis, positive regulation of DNA ligation, regulation of isotype switching, cellular response to DNA damage stimulus, double-strand break repair, double-strand break repair, single strand break repair, 7 9 22 9 5 25 11 7 3 ENSG00000169627 chr16 30192934 30194306 - BOLA2B protein_coding This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 654483 GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0051536, GO:0005515, iron-sulfur cluster binding, protein binding, GO:0097428, GO:0044571, GO:0035722, GO:0006879, protein maturation by iron-sulfur cluster transfer, [2Fe-2S] cluster assembly, interleukin-12-mediated signaling pathway, cellular iron ion homeostasis, 20 1 2 0 14 1 0 0 1 ENSG00000169629 chr2 112370092 112434488 - RGPD8 protein_coding 727851 GO:0005737, GO:0005643, GO:0005643, cytoplasm, nuclear pore, nuclear pore, GO:0031267, GO:0031267, GO:0005096, small GTPase binding, small GTPase binding, GTPase activator activity, GO:0043547, GO:0008150, GO:0006607, positive regulation of GTPase activity, biological_process, NLS-bearing protein import into nucleus, 51 53 74 38 68 45 67 45 80 ENSG00000169635 chr22 21417404 21451463 + HIC2 protein_coding 23119 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0008022, GO:0005515, GO:0003677, GO:0001227, GO:0000978, metal ion binding, protein C-terminus binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 205 246 212 323 274 285 307 170 228 ENSG00000169641 chr1 23084023 23177808 - LUZP1 protein_coding This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. 7798 GO:0070062, GO:0016020, GO:0005634, extracellular exosome, membrane, nucleus, GO:0060840, GO:0021503, GO:0003281, artery development, neural fold bending, ventricular septum development, 163 146 339 140 65 185 96 37 85 ENSG00000169660 chr17 82418318 82442645 + HEXDC protein_coding 284004 GO:1903561, GO:0005737, GO:0005634, extracellular vesicle, cytoplasm, nucleus, GO:0102148, GO:0015929, GO:0004563, N-acetyl-beta-D-galactosaminidase activity, hexosaminidase activity, beta-N-acetylhexosaminidase activity, GO:0005975, carbohydrate metabolic process, 186 151 191 164 186 213 195 148 147 ENSG00000169662 chr22 21290760 21294586 - BCRP6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000169668 chr22 21103016 21122285 + BCRP2 transcribed_unprocessed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000169676 chr4 9781680 9784009 + DRD5 protein_coding This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]. 1816 GO:0097730, GO:0060170, GO:0045202, GO:0031526, GO:0005929, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, non-motile cilium, ciliary membrane, synapse, brush border membrane, cilium, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0035240, GO:0005515, GO:0004952, GO:0004930, GO:0001588, GO:0001588, dopamine binding, protein binding, dopamine neurotransmitter receptor activity, G protein-coupled receptor activity, dopamine neurotransmitter receptor activity, coupled via Gs, dopamine neurotransmitter receptor activity, coupled via Gs, GO:0072593, GO:0071880, GO:0071870, GO:0060292, GO:0060158, GO:0046960, GO:0045924, GO:0045776, GO:0045762, GO:0042220, GO:0042060, GO:0033861, GO:0019226, GO:0008306, GO:0007268, GO:0007212, GO:0007191, GO:0007190, GO:0007189, GO:0007186, GO:0006874, GO:0001994, GO:0001992, GO:0001975, GO:0001963, reactive oxygen species metabolic process, adenylate cyclase-activating adrenergic receptor signaling pathway, cellular response to catecholamine stimulus, long-term synaptic depression, phospholipase C-activating dopamine receptor signaling pathway, sensitization, regulation of female receptivity, negative regulation of blood pressure, positive regulation of adenylate cyclase activity, response to cocaine, wound healing, negative regulation of NAD(P)H oxidase activity, transmission of nerve impulse, associative learning, chemical synaptic transmission, dopamine receptor signaling pathway, adenylate cyclase-activating dopamine receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cellular calcium ion homeostasis, norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure, regulation of systemic arterial blood pressure by vasopressin, response to amphetamine, synaptic transmission, dopaminergic, 0 0 0 0 0 0 0 0 0 ENSG00000169679 chr2 110637698 110678114 - BUB1 protein_coding This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 699 GO:0016020, GO:0005829, GO:0005829, GO:0005654, GO:0000942, GO:0000778, GO:0000777, GO:0000776, membrane, cytosol, cytosol, nucleoplasm, condensed nuclear chromosome outer kinetochore, condensed nuclear chromosome kinetochore, condensed chromosome kinetochore, kinetochore, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein kinase activity, GO:0051983, GO:0051754, GO:0051301, GO:0016032, GO:0008283, GO:0007094, GO:0007093, GO:0007063, GO:0006915, GO:0006468, regulation of chromosome segregation, meiotic sister chromatid cohesion, centromeric, cell division, viral process, cell population proliferation, mitotic spindle assembly checkpoint, mitotic cell cycle checkpoint, regulation of sister chromatid cohesion, apoptotic process, protein phosphorylation, 3 3 13 4 0 10 10 2 1 ENSG00000169682 chr16 28974221 28984548 + SPNS1 protein_coding 83985 GO:0016021, GO:0005765, GO:0005743, integral component of membrane, lysosomal membrane, mitochondrial inner membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, GO:0006869, transmembrane transport, lipid transport, 1 6 3 32 46 22 27 27 17 ENSG00000169683 chr17 82023302 82031151 + LRRC45 protein_coding 201255 GO:0005886, GO:0005829, GO:0005813, GO:0005654, plasma membrane, cytosol, centrosome, nucleoplasm, GO:0005515, protein binding, 10 3 12 31 19 27 31 20 27 ENSG00000169684 chr15 78565520 78595269 + CHRNA5 protein_coding The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]. 1138 GO:0098691, GO:0045211, GO:0045202, GO:0043005, GO:0005892, GO:0005887, GO:0005886, dopaminergic synapse, postsynaptic membrane, synapse, neuron projection, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0022848, GO:0022848, GO:0015464, GO:0015276, GO:0005515, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, ligand-gated ion channel activity, protein binding, GO:2000300, GO:0060079, GO:0050877, GO:0042391, GO:0035095, GO:0035094, GO:0034220, GO:0007271, GO:0007268, GO:0007268, GO:0007165, GO:0007165, regulation of synaptic vesicle exocytosis, excitatory postsynaptic potential, nervous system process, regulation of membrane potential, behavioral response to nicotine, response to nicotine, ion transmembrane transport, synaptic transmission, cholinergic, chemical synaptic transmission, chemical synaptic transmission, signal transduction, signal transduction, 0 0 3 0 1 0 0 0 0 ENSG00000169688 chr16 56651899 56653204 + MT1B protein_coding The protein encoded by this gene binds heavy metals and protects against toxicity from heavy metal ions. This gene is found in a cluster of similar genes on chromosome 16. [provided by RefSeq, Jul 2016]. 4490 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0071294, GO:0071294, GO:0071280, GO:0071276, GO:0045926, GO:0010273, GO:0006882, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, negative regulation of growth, detoxification of copper ion, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000169689 chr17 82018702 82024107 - CENPX protein_coding 201254 GO:0071821, GO:0071821, GO:0043240, GO:0043240, GO:0005654, GO:0000777, FANCM-MHF complex, FANCM-MHF complex, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, nucleoplasm, condensed chromosome kinetochore, GO:0005515, GO:0003690, GO:0003677, protein binding, double-stranded DNA binding, DNA binding, GO:0051382, GO:0051301, GO:0036297, GO:0034080, GO:0031398, GO:0031297, GO:0031297, GO:0000712, GO:0000712, kinetochore assembly, cell division, interstrand cross-link repair, CENP-A containing nucleosome assembly, positive regulation of protein ubiquitination, replication fork processing, replication fork processing, resolution of meiotic recombination intermediates, resolution of meiotic recombination intermediates, 8 19 22 23 21 24 30 19 13 ENSG00000169692 chr9 136673143 136687423 - AGPAT2 protein_coding This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 10555 GO:0035579, GO:0016021, GO:0005886, GO:0005789, GO:0005783, GO:0005783, GO:0005783, specific granule membrane, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, GO:0003841, GO:0003841, GO:0003841, GO:0003841, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0043312, GO:0042493, GO:0016024, GO:0008544, GO:0006654, GO:0006654, GO:0006654, GO:0006644, GO:0001961, GO:0001819, neutrophil degranulation, response to drug, CDP-diacylglycerol biosynthetic process, epidermis development, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, phospholipid metabolic process, positive regulation of cytokine-mediated signaling pathway, positive regulation of cytokine production, 202 179 207 116 158 103 115 154 83 ENSG00000169696 chr17 81976807 82017406 + ASPSCR1 protein_coding The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]. 79058 GO:0048471, GO:0043231, GO:0033116, GO:0019898, GO:0012506, GO:0012505, GO:0009898, GO:0005886, GO:0005829, GO:0005654, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, endoplasmic reticulum-Golgi intermediate compartment membrane, extrinsic component of membrane, vesicle membrane, endomembrane system, cytoplasmic side of plasma membrane, plasma membrane, cytosol, nucleoplasm, GO:0005515, protein binding, GO:0046324, GO:0042593, GO:0031401, GO:0006886, regulation of glucose import, glucose homeostasis, positive regulation of protein modification process, intracellular protein transport, 28 32 52 46 51 92 60 35 57 ENSG00000169704 chr3 129060767 129062406 + GP9 protein_coding This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]. 2815 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0030168, GO:0007597, GO:0007596, GO:0007155, platelet activation, blood coagulation, intrinsic pathway, blood coagulation, cell adhesion, 0 0 1 0 0 0 0 0 0 ENSG00000169710 chr17 82078333 82098332 - FASN protein_coding The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]. 2194 GO:0070062, GO:0042587, GO:0042470, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005794, extracellular exosome, glycogen granule, melanosome, membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, GO:0102132, GO:0102131, GO:0070402, GO:0047451, GO:0047117, GO:0045296, GO:0042802, GO:0031177, GO:0016296, GO:0016295, GO:0008693, GO:0008659, GO:0008144, GO:0005515, GO:0004320, GO:0004317, GO:0004316, GO:0004315, GO:0004314, GO:0004313, GO:0003723, 3-oxo-pimeloyl-[acp] methyl ester reductase activity, 3-oxo-glutaryl-[acp] methyl ester reductase activity, NADPH binding, 3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity, enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity, cadherin binding, identical protein binding, phosphopantetheine binding, palmitoyl-[acyl-carrier-protein] hydrolase activity, myristoyl-[acyl-carrier-protein] hydrolase activity, 3-hydroxydecanoyl-[acyl-carrier-protein] dehydratase activity, (3R)-hydroxymyristoyl-[acyl-carrier-protein] dehydratase activity, drug binding, protein binding, oleoyl-[acyl-carrier-protein] hydrolase activity, 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity, 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity, 3-oxoacyl-[acyl-carrier-protein] synthase activity, [acyl-carrier-protein] S-malonyltransferase activity, [acyl-carrier-protein] S-acetyltransferase activity, RNA binding, GO:0071353, GO:0055114, GO:0046949, GO:0045540, GO:0031325, GO:0030879, GO:0006633, GO:0006631, GO:0006084, GO:0001649, cellular response to interleukin-4, oxidation-reduction process, fatty-acyl-CoA biosynthetic process, regulation of cholesterol biosynthetic process, positive regulation of cellular metabolic process, mammary gland development, fatty acid biosynthetic process, fatty acid metabolic process, acetyl-CoA metabolic process, osteoblast differentiation, 131 77 225 149 42 159 161 35 115 ENSG00000169714 chr3 129169484 129183922 - CNBP protein_coding This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]. 7555 GO:0005829, GO:0005783, GO:0005737, GO:0005634, GO:0005634, cytosol, endoplasmic reticulum, cytoplasm, nucleus, nucleus, GO:0051880, GO:0045182, GO:0008270, GO:0005515, GO:0003729, GO:0003727, GO:0003723, GO:0003697, G-quadruplex DNA binding, translation regulator activity, zinc ion binding, protein binding, mRNA binding, single-stranded RNA binding, RNA binding, single-stranded DNA binding, GO:2000767, GO:0071919, GO:0045944, GO:0045893, GO:0042632, GO:0008284, GO:0006355, GO:0000122, positive regulation of cytoplasmic translation, G-quadruplex DNA formation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, cholesterol homeostasis, positive regulation of cell population proliferation, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 4616 4073 4487 1447 2848 2276 1783 2775 1868 ENSG00000169715 chr16 56625475 56627112 + MT1E protein_coding 4493 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0071294, GO:0071294, GO:0071280, GO:0071276, GO:0071276, GO:0045926, GO:0010273, GO:0006882, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, cellular response to cadmium ion, negative regulation of growth, detoxification of copper ion, cellular zinc ion homeostasis, 0 0 0 0 0 4 0 2 0 ENSG00000169717 chr1 3021483 3022903 + ACTRT2 protein_coding The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]. 140625 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000169718 chr17 82057506 82065887 - DUS1L protein_coding 64118 GO:0050660, GO:0017150, GO:0005515, flavin adenine dinucleotide binding, tRNA dihydrouridine synthase activity, protein binding, GO:0055114, GO:0002943, oxidation-reduction process, tRNA dihydrouridine synthesis, 97 104 128 155 136 170 159 62 148 ENSG00000169727 chr17 82050691 82057470 + GPS1 protein_coding This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [provided by RefSeq, Mar 2016]. 2873 GO:0008180, GO:0008180, GO:0005829, GO:0005829, GO:0005654, GO:0005654, COP9 signalosome, COP9 signalosome, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0005515, GO:0005095, protein binding, GTPase inhibitor activity, GO:0043687, GO:0034260, GO:0007254, GO:0006283, GO:0000715, GO:0000338, GO:0000188, post-translational protein modification, negative regulation of GTPase activity, JNK cascade, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA damage recognition, protein deneddylation, inactivation of MAPK activity, 99 109 95 152 110 204 109 129 111 ENSG00000169733 chr17 82047902 82051831 - RFNG protein_coding 5986 GO:0030173, GO:0005576, integral component of Golgi membrane, extracellular region, GO:0046872, GO:0033829, GO:0008375, GO:0003674, metal ion binding, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, molecular_function, GO:0045747, GO:0032092, GO:0030154, GO:0009887, GO:0008593, GO:0008593, GO:0007399, GO:0007389, positive regulation of Notch signaling pathway, positive regulation of protein binding, cell differentiation, animal organ morphogenesis, regulation of Notch signaling pathway, regulation of Notch signaling pathway, nervous system development, pattern specification process, 88 131 138 71 128 123 77 133 102 ENSG00000169738 chr17 82035136 82037732 - DCXR protein_coding The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]. 51181 GO:0070062, GO:0005903, GO:0005902, GO:0005886, GO:0005881, GO:0005634, extracellular exosome, brush border, microvillus, plasma membrane, cytoplasmic microtubule, nucleus, GO:0050038, GO:0050038, GO:0044105, GO:0042802, GO:0016655, GO:0005515, GO:0004090, L-xylulose reductase (NADP+) activity, L-xylulose reductase (NADP+) activity, L-xylulose reductase (NAD+) activity, identical protein binding, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, protein binding, carbonyl reductase (NADPH) activity, GO:0055114, GO:0042732, GO:0019640, GO:0006739, GO:0006006, GO:0006006, GO:0005997, GO:0005997, oxidation-reduction process, D-xylose metabolic process, glucuronate catabolic process to xylulose 5-phosphate, NADP metabolic process, glucose metabolic process, glucose metabolic process, xylulose metabolic process, xylulose metabolic process, 63 66 132 88 111 148 57 84 150 ENSG00000169740 chr10 43643859 43648856 - ZNF32 protein_coding 7580 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 15 11 20 22 5 60 27 4 12 ENSG00000169744 chr4 16501541 16898809 - LDB2 protein_coding The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 9079 GO:0031252, GO:0005886, GO:0005730, GO:0005667, GO:0005654, GO:0005634, GO:0005634, cell leading edge, plasma membrane, nucleolus, transcription regulator complex, nucleoplasm, nucleus, nucleus, GO:0030274, GO:0030274, GO:0019899, GO:0005515, GO:0003712, GO:0001102, LIM domain binding, LIM domain binding, enzyme binding, protein binding, transcription coregulator activity, RNA polymerase II activating transcription factor binding, GO:0045944, GO:0044089, GO:0043549, GO:0035019, GO:0030334, GO:0010669, GO:0007399, GO:0001942, GO:0000122, positive regulation of transcription by RNA polymerase II, positive regulation of cellular component biogenesis, regulation of kinase activity, somatic stem cell population maintenance, regulation of cell migration, epithelial structure maintenance, nervous system development, hair follicle development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 1 0 1 0 0 ENSG00000169750 chr17 82031624 82034204 + RAC3 protein_coding The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 5881 GO:0071944, GO:0070062, GO:0048471, GO:0045202, GO:0043231, GO:0043025, GO:0043005, GO:0043005, GO:0042995, GO:0031941, GO:0031410, GO:0030426, GO:0030027, GO:0012505, GO:0005938, GO:0005886, GO:0005886, GO:0005856, GO:0005829, cell periphery, extracellular exosome, perinuclear region of cytoplasm, synapse, intracellular membrane-bounded organelle, neuronal cell body, neuron projection, neuron projection, cell projection, filamentous actin, cytoplasmic vesicle, growth cone, lamellipodium, endomembrane system, cell cortex, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0048306, GO:0019901, GO:0005525, GO:0005515, GO:0003924, GO:0003924, calcium-dependent protein binding, protein kinase binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1900026, GO:0051932, GO:0051056, GO:0050885, GO:0048873, GO:0035556, GO:0033630, GO:0032956, GO:0031175, GO:0030865, GO:0030036, GO:0030031, GO:0021894, GO:0016055, GO:0014041, GO:0008360, GO:0007264, GO:0007163, GO:0007015, positive regulation of substrate adhesion-dependent cell spreading, synaptic transmission, GABAergic, regulation of small GTPase mediated signal transduction, neuromuscular process controlling balance, homeostasis of number of cells within a tissue, intracellular signal transduction, positive regulation of cell adhesion mediated by integrin, regulation of actin cytoskeleton organization, neuron projection development, cortical cytoskeleton organization, actin cytoskeleton organization, cell projection assembly, cerebral cortex GABAergic interneuron development, Wnt signaling pathway, regulation of neuron maturation, regulation of cell shape, small GTPase mediated signal transduction, establishment or maintenance of cell polarity, actin filament organization, 1 4 1 4 0 0 0 0 0 ENSG00000169752 chr15 75935969 76059795 - NRG4 protein_coding The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM, Mar 2008]. 145957 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0008083, GO:0005515, growth factor activity, protein binding, GO:2000145, GO:0051897, GO:0038128, GO:0007399, GO:0000165, regulation of cell motility, positive regulation of protein kinase B signaling, ERBB2 signaling pathway, nervous system development, MAPK cascade, 4 7 6 16 3 12 20 8 6 ENSG00000169756 chr2 108534355 108687246 + LIMS1 protein_coding The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 3987 GO:0048471, GO:0005925, GO:0005925, GO:0005925, GO:0005925, GO:0005911, GO:0005911, GO:0005886, GO:0005829, GO:0005737, perinuclear region of cytoplasm, focal adhesion, focal adhesion, focal adhesion, focal adhesion, cell-cell junction, cell-cell junction, plasma membrane, cytosol, cytoplasm, GO:0019901, GO:0008270, GO:0005515, protein kinase binding, zinc ion binding, protein binding, GO:2001046, GO:1901224, GO:1900026, GO:1900026, GO:0098609, GO:0071560, GO:0051894, GO:0050678, GO:0045892, GO:0045216, GO:0045184, GO:0043547, GO:0034329, GO:0033209, GO:0010811, GO:0010628, GO:0007569, GO:0001837, positive regulation of integrin-mediated signaling pathway, positive regulation of NIK/NF-kappaB signaling, positive regulation of substrate adhesion-dependent cell spreading, positive regulation of substrate adhesion-dependent cell spreading, cell-cell adhesion, cellular response to transforming growth factor beta stimulus, positive regulation of focal adhesion assembly, regulation of epithelial cell proliferation, negative regulation of transcription, DNA-templated, cell-cell junction organization, establishment of protein localization, positive regulation of GTPase activity, cell junction assembly, tumor necrosis factor-mediated signaling pathway, positive regulation of cell-substrate adhesion, positive regulation of gene expression, cell aging, epithelial to mesenchymal transition, 292 203 548 281 153 290 236 142 191 ENSG00000169758 chr15 76059837 76229121 + TMEM266 protein_coding 123591 GO:0043204, GO:0030425, GO:0005887, GO:0005886, GO:0005829, perikaryon, dendrite, integral component of plasma membrane, plasma membrane, cytosol, GO:0042803, GO:0022832, GO:0015267, GO:0005515, protein homodimerization activity, voltage-gated channel activity, channel activity, protein binding, GO:0055085, transmembrane transport, 4 6 4 3 9 0 3 3 0 ENSG00000169760 chr3 173396284 174286644 + NLGN1 protein_coding This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]. 22871 GO:0099055, GO:0098985, GO:0098794, GO:0098793, GO:0089717, GO:0060076, GO:0045202, GO:0045202, GO:0043235, GO:0043198, GO:0043197, GO:0043083, GO:0032433, GO:0030425, GO:0017146, GO:0014069, GO:0014069, GO:0009986, GO:0009986, GO:0009897, GO:0005887, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005794, integral component of postsynaptic membrane, asymmetric, glutamatergic, excitatory synapse, postsynapse, presynapse, spanning component of membrane, excitatory synapse, synapse, synapse, receptor complex, dendritic shaft, dendritic spine, synaptic cleft, filopodium tip, dendrite, NMDA selective glutamate receptor complex, postsynaptic density, postsynaptic density, cell surface, cell surface, external side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0097110, GO:0050839, GO:0044877, GO:0042802, GO:0042043, GO:0042043, GO:0042043, GO:0038023, GO:0038023, GO:0030165, GO:0001540, scaffold protein binding, cell adhesion molecule binding, protein-containing complex binding, identical protein binding, neurexin family protein binding, neurexin family protein binding, neurexin family protein binding, signaling receptor activity, signaling receptor activity, PDZ domain binding, amyloid-beta binding, GO:2000809, GO:2000463, GO:2000463, GO:2000311, GO:2000310, GO:2000310, GO:2000302, GO:1905520, GO:1904861, GO:1902533, GO:1902474, GO:1900244, GO:1900029, GO:0140058, GO:0099560, GO:0099054, GO:0098942, GO:0097120, GO:0097119, GO:0097115, GO:0097114, GO:0097113, GO:0097105, GO:0097105, GO:0097104, GO:0097104, GO:0097091, GO:0072553, GO:0071277, GO:0061002, GO:0060999, GO:0060999, GO:0060291, GO:0051968, GO:0051965, GO:0051965, GO:0051491, GO:0050804, GO:0050804, GO:0048789, GO:0048511, GO:0048489, GO:0048488, GO:0045664, GO:0045184, GO:0035418, GO:0032230, GO:0031175, GO:0031175, GO:0023041, GO:0016339, GO:0016080, GO:0010841, GO:0007416, GO:0007399, GO:0007268, GO:0007158, GO:0007158, GO:0007158, GO:0007158, GO:0007157, GO:0006605, GO:0002087, positive regulation of synaptic vesicle clustering, positive regulation of excitatory postsynaptic potential, positive regulation of excitatory postsynaptic potential, regulation of AMPA receptor activity, regulation of NMDA receptor activity, regulation of NMDA receptor activity, positive regulation of synaptic vesicle exocytosis, positive regulation of presynaptic active zone assembly, excitatory synapse assembly, positive regulation of intracellular signal transduction, positive regulation of protein localization to synapse, positive regulation of synaptic vesicle endocytosis, positive regulation of ruffle assembly, neuron projection arborization, synaptic membrane adhesion, presynapse assembly, retrograde trans-synaptic signaling by trans-synaptic protein complex, receptor localization to synapse, postsynaptic density protein 95 clustering, neurexin clustering involved in presynaptic membrane assembly, NMDA glutamate receptor clustering, AMPA glutamate receptor clustering, presynaptic membrane assembly, presynaptic membrane assembly, postsynaptic membrane assembly, postsynaptic membrane assembly, synaptic vesicle clustering, terminal button organization, cellular response to calcium ion, negative regulation of dendritic spine morphogenesis, positive regulation of dendritic spine development, positive regulation of dendritic spine development, long-term synaptic potentiation, positive regulation of synaptic transmission, glutamatergic, positive regulation of synapse assembly, positive regulation of synapse assembly, positive regulation of filopodium assembly, modulation of chemical synaptic transmission, modulation of chemical synaptic transmission, cytoskeletal matrix organization at active zone, rhythmic process, synaptic vesicle transport, synaptic vesicle endocytosis, regulation of neuron differentiation, establishment of protein localization, protein localization to synapse, positive regulation of synaptic transmission, GABAergic, neuron projection development, neuron projection development, neuronal signal transduction, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synaptic vesicle targeting, positive regulation of circadian sleep/wake cycle, wakefulness, synapse assembly, nervous system development, chemical synaptic transmission, neuron cell-cell adhesion, neuron cell-cell adhesion, neuron cell-cell adhesion, neuron cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, protein targeting, regulation of respiratory gaseous exchange by nervous system process, 0 0 0 0 0 0 0 0 0 ENSG00000169762 chr4 16160505 16227410 - TAPT1 protein_coding This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]. 202018 GO:0036064, GO:0036064, GO:0030176, GO:0016021, GO:0005813, ciliary basal body, ciliary basal body, integral component of endoplasmic reticulum membrane, integral component of membrane, centrosome, GO:0016520, growth hormone-releasing hormone receptor activity, GO:1903012, GO:0061036, GO:0051216, GO:0048706, GO:0045724, GO:0045724, GO:0035437, GO:0030030, GO:0016032, GO:0014032, GO:0007186, GO:0001503, positive regulation of bone development, positive regulation of cartilage development, cartilage development, embryonic skeletal system development, positive regulation of cilium assembly, positive regulation of cilium assembly, maintenance of protein localization in endoplasmic reticulum, cell projection organization, viral process, neural crest cell development, G protein-coupled receptor signaling pathway, ossification, 266 303 474 340 353 336 318 245 257 ENSG00000169763 chrY 23681440 23694579 - PRYP3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000169764 chr2 63840940 63891562 + UGP2 protein_coding The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7360 GO:0070062, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytoplasm, nucleus, GO:0046872, GO:0042802, GO:0032557, GO:0005536, GO:0005515, GO:0003983, GO:0003983, GO:0003983, metal ion binding, identical protein binding, pyrimidine ribonucleotide binding, glucose binding, protein binding, UTP:glucose-1-phosphate uridylyltransferase activity, UTP:glucose-1-phosphate uridylyltransferase activity, UTP:glucose-1-phosphate uridylyltransferase activity, GO:0019255, GO:0007420, GO:0006065, GO:0006011, GO:0006011, GO:0006011, GO:0005978, GO:0005978, GO:0005978, GO:0005977, glucose 1-phosphate metabolic process, brain development, UDP-glucuronate biosynthetic process, UDP-glucose metabolic process, UDP-glucose metabolic process, UDP-glucose metabolic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen biosynthetic process, glycogen metabolic process, 539 486 713 249 436 315 326 362 296 ENSG00000169777 chr5 9628997 9712378 - TAS2R1 protein_coding This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [provided by RefSeq, Jul 2008]. 50834 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000169783 chr15 77613027 77820900 - LINGO1 protein_coding 84894 GO:0031012, GO:0016021, GO:0005886, GO:0005615, extracellular matrix, integral component of membrane, plasma membrane, extracellular space, GO:0005515, GO:0005154, protein binding, epidermal growth factor receptor binding, GO:0050771, negative regulation of axonogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000169789 chrY 22490397 22514637 + PRY protein_coding This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. 9081 0 0 0 0 0 0 0 0 0 ENSG00000169800 chrY 22168542 22182982 - RBMY1F protein_coding This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]. 159163 GO:0016607, GO:0005575, nuclear speck, cellular_component, GO:0042802, GO:0005515, GO:0003723, GO:0003723, identical protein binding, protein binding, RNA binding, RNA binding, GO:0045292, GO:0007283, GO:0000381, mRNA cis splicing, via spliceosome, spermatogenesis, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000169807 chrY 22071756 22096007 - PRY2 protein_coding This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. 442862 0 0 0 0 1 0 0 0 0 ENSG00000169811 chrY 21493519 21501968 + RBMY1HP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000169813 chr10 43385617 43409166 - HNRNPF protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 3185 GO:1990904, GO:0071013, GO:0016020, GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, catalytic step 2 spliceosome, membrane, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0017025, GO:0005515, GO:0003727, GO:0003723, GO:0003723, TBP-class protein binding, protein binding, single-stranded RNA binding, RNA binding, RNA binding, GO:0043484, GO:0043484, GO:0043484, GO:0035722, GO:0016070, GO:0008543, GO:0006396, GO:0000398, GO:0000398, regulation of RNA splicing, regulation of RNA splicing, regulation of RNA splicing, interleukin-12-mediated signaling pathway, RNA metabolic process, fibroblast growth factor receptor signaling pathway, RNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 2267 2330 2314 7788 7008 7201 7422 4867 4631 ENSG00000169814 chr3 15601341 15647640 + BTD protein_coding The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]. 686 GO:0070062, GO:0005759, GO:0005615, GO:0005576, extracellular exosome, mitochondrial matrix, extracellular space, extracellular region, GO:0047708, biotinidase activity, GO:0007417, GO:0006768, GO:0006768, central nervous system development, biotin metabolic process, biotin metabolic process, 102 126 149 69 141 69 81 88 72 ENSG00000169826 chr10 43138486 43185308 + CSGALNACT2 protein_coding This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]. 55454 GO:0032580, GO:0030173, GO:0016020, GO:0000139, Golgi cisterna membrane, integral component of Golgi membrane, membrane, Golgi membrane, GO:0047238, GO:0047237, GO:0046872, GO:0008376, GO:0008376, GO:0005515, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, metal ion binding, acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, protein binding, GO:0050653, GO:0050652, GO:0050651, GO:0050650, GO:0030206, GO:0030206, GO:0030166, chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, dermatan sulfate proteoglycan biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, proteoglycan biosynthetic process, 1656 1684 2445 1503 1415 1987 1822 1147 1507 ENSG00000169836 chr4 103586031 103719816 - TACR3 protein_coding This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008]. 6870 GO:0097225, GO:0097225, GO:0032809, GO:0032590, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005634, sperm midpiece, sperm midpiece, neuronal cell body membrane, dendrite membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0005515, GO:0004995, protein binding, tachykinin receptor activity, GO:1902093, GO:1902093, GO:0070474, GO:0060259, GO:0045777, GO:0043278, GO:0042538, GO:0042220, GO:0042053, GO:0032355, GO:0010460, GO:0007568, GO:0007217, GO:0007186, positive regulation of flagellated sperm motility, positive regulation of flagellated sperm motility, positive regulation of uterine smooth muscle contraction, regulation of feeding behavior, positive regulation of blood pressure, response to morphine, hyperosmotic salinity response, response to cocaine, regulation of dopamine metabolic process, response to estradiol, positive regulation of heart rate, aging, tachykinin receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169840 chr13 27792643 27794768 + GSX1 protein_coding 219409 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048663, GO:0045944, GO:0045944, GO:0030182, GO:0021984, GO:0021854, GO:0021527, GO:0007417, GO:0006357, GO:0000122, neuron fate commitment, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, neuron differentiation, adenohypophysis development, hypothalamus development, spinal cord association neuron differentiation, central nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000169849 chrY 21468158 21470683 + TSPY14P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000169851 chr4 30720415 31146805 + PCDH7 protein_coding This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]. 5099 GO:0031092, GO:0005887, GO:0005886, GO:0005886, platelet alpha granule membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, GO:0002576, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, platelet degranulation, 0 0 0 0 0 0 0 0 0 ENSG00000169855 chr3 78597240 79767815 - ROBO1 protein_coding Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 6091 GO:0033116, GO:0030424, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005737, endoplasmic reticulum-Golgi intermediate compartment membrane, axon, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042802, GO:0030275, GO:0008046, GO:0005515, identical protein binding, LRR domain binding, axon guidance receptor activity, protein binding, GO:1900748, GO:0070100, GO:0060412, GO:0050925, GO:0050772, GO:0043406, GO:0035904, GO:0035481, GO:0035385, GO:0035025, GO:0033600, GO:0030336, GO:0021836, GO:0016199, GO:0010629, GO:0010628, GO:0007411, GO:0007399, GO:0007156, GO:0007155, GO:0006919, GO:0003272, GO:0003184, GO:0003180, GO:0003148, GO:0002042, positive regulation of vascular endothelial growth factor signaling pathway, negative regulation of chemokine-mediated signaling pathway, ventricular septum morphogenesis, negative regulation of negative chemotaxis, positive regulation of axonogenesis, positive regulation of MAP kinase activity, aorta development, positive regulation of Notch signaling pathway involved in heart induction, Roundabout signaling pathway, positive regulation of Rho protein signal transduction, negative regulation of mammary gland epithelial cell proliferation, negative regulation of cell migration, chemorepulsion involved in postnatal olfactory bulb interneuron migration, axon midline choice point recognition, negative regulation of gene expression, positive regulation of gene expression, axon guidance, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, activation of cysteine-type endopeptidase activity involved in apoptotic process, endocardial cushion formation, pulmonary valve morphogenesis, aortic valve morphogenesis, outflow tract septum morphogenesis, cell migration involved in sprouting angiogenesis, 2 0 0 1 0 0 0 2 0 ENSG00000169856 chr15 52756989 52791078 - ONECUT1 protein_coding This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 3175 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060271, GO:0048536, GO:0045944, GO:0045165, GO:0031018, GO:0030512, GO:0030335, GO:0030183, GO:0009653, GO:0007492, GO:0007219, GO:0006357, GO:0006355, GO:0006006, GO:0002064, GO:0001952, GO:0001889, cilium assembly, spleen development, positive regulation of transcription by RNA polymerase II, cell fate commitment, endocrine pancreas development, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, B cell differentiation, anatomical structure morphogenesis, endoderm development, Notch signaling pathway, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, glucose metabolic process, epithelial cell development, regulation of cell-matrix adhesion, liver development, 0 0 0 0 0 0 0 0 0 ENSG00000169857 chr15 33866227 34039176 - AVEN protein_coding 57099 GO:0016020, GO:0012505, GO:0005829, membrane, endomembrane system, cytosol, GO:0005515, protein binding, GO:0043066, GO:0010972, GO:0006915, negative regulation of apoptotic process, negative regulation of G2/M transition of mitotic cell cycle, apoptotic process, 4 7 5 8 2 11 9 2 20 ENSG00000169860 chr3 152834693 152841439 + P2RY1 protein_coding The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]. 5028 GO:0099059, GO:0045211, GO:0044297, GO:0030425, GO:0016324, GO:0016323, GO:0014069, GO:0009986, GO:0005929, GO:0005887, GO:0005886, GO:0005886, GO:0005739, integral component of presynaptic active zone membrane, postsynaptic membrane, cell body, dendrite, apical plasma membrane, basolateral plasma membrane, postsynaptic density, cell surface, cilium, integral component of plasma membrane, plasma membrane, plasma membrane, mitochondrion, GO:0097110, GO:0046982, GO:0045031, GO:0045028, GO:0043531, GO:0038023, GO:0031686, GO:0005524, GO:0005515, GO:0001621, scaffold protein binding, protein heterodimerization activity, G protein-coupled ATP receptor activity, G protein-coupled purinergic nucleotide receptor activity, ADP binding, signaling receptor activity, A1 adenosine receptor binding, ATP binding, protein binding, G protein-coupled ADP receptor activity, GO:0097746, GO:0090075, GO:0072659, GO:0071415, GO:0071318, GO:0070848, GO:0070374, GO:0060406, GO:0051100, GO:0046887, GO:0045944, GO:0043270, GO:0042755, GO:0035589, GO:0032962, GO:0030168, GO:0023019, GO:0019233, GO:0010700, GO:0010469, GO:0009612, GO:0008360, GO:0008347, GO:0007568, GO:0007204, GO:0007200, GO:0007193, GO:0007186, GO:0007186, GO:0007166, GO:0001973, GO:0001934, blood vessel diameter maintenance, relaxation of muscle, protein localization to plasma membrane, cellular response to purine-containing compound, cellular response to ATP, response to growth factor, positive regulation of ERK1 and ERK2 cascade, positive regulation of penile erection, negative regulation of binding, positive regulation of hormone secretion, positive regulation of transcription by RNA polymerase II, positive regulation of ion transport, eating behavior, G protein-coupled purinergic nucleotide receptor signaling pathway, positive regulation of inositol trisphosphate biosynthetic process, platelet activation, signal transduction involved in regulation of gene expression, sensory perception of pain, negative regulation of norepinephrine secretion, regulation of signaling receptor activity, response to mechanical stimulus, regulation of cell shape, glial cell migration, aging, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, G protein-coupled adenosine receptor signaling pathway, positive regulation of protein phosphorylation, 5 2 6 3 8 4 1 3 2 ENSG00000169862 chr5 10971840 11904043 - CTNND2 protein_coding This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]. 1501 GO:0043204, GO:0030425, GO:0014069, GO:0005912, GO:0005886, GO:0005737, GO:0005634, perikaryon, dendrite, postsynaptic density, adherens junction, plasma membrane, cytoplasm, nucleus, GO:0045296, GO:0008013, GO:0005515, cadherin binding, beta-catenin binding, protein binding, GO:0098609, GO:0060997, GO:0060997, GO:0060828, GO:0050808, GO:0016055, GO:0007165, GO:0007155, GO:0007043, cell-cell adhesion, dendritic spine morphogenesis, dendritic spine morphogenesis, regulation of canonical Wnt signaling pathway, synapse organization, Wnt signaling pathway, signal transduction, cell adhesion, cell-cell junction assembly, 0 0 0 5 1 0 0 0 0 ENSG00000169871 chr7 101085439 101097967 + TRIM56 protein_coding 81844 GO:0005829, GO:0005737, GO:0005654, GO:0000785, cytosol, cytoplasm, nucleoplasm, chromatin, GO:0008270, GO:0005515, GO:0004842, GO:0004842, GO:0004842, GO:0003723, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, RNA binding, GO:0070534, GO:0051607, GO:0045893, GO:0045087, GO:0034340, GO:0032608, GO:0032479, protein K63-linked ubiquitination, defense response to virus, positive regulation of transcription, DNA-templated, innate immune response, response to type I interferon, interferon-beta production, regulation of type I interferon production, 1570 1325 1969 922 1135 1186 1338 874 1130 ENSG00000169876 chr7 101020072 101058745 + MUC17 protein_coding The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]. 140453 GO:0062023, GO:0016324, GO:0016324, GO:0016021, GO:0009897, GO:0009897, GO:0005886, GO:0005796, collagen-containing extracellular matrix, apical plasma membrane, apical plasma membrane, integral component of membrane, external side of plasma membrane, external side of plasma membrane, plasma membrane, Golgi lumen, GO:0030197, GO:0030197, GO:0030165, GO:0005515, extracellular matrix constituent, lubricant activity, extracellular matrix constituent, lubricant activity, PDZ domain binding, protein binding, GO:0019725, GO:0016266, GO:0002223, cellular homeostasis, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000169877 chr16 31527864 31528803 + AHSP protein_coding This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 51327 GO:0005833, GO:0005737, hemoglobin complex, cytoplasm, GO:0051082, GO:0030492, GO:0005515, unfolded protein binding, hemoglobin binding, protein binding, GO:0050821, GO:0030218, GO:0030097, GO:0020027, GO:0006457, protein stabilization, erythrocyte differentiation, hemopoiesis, hemoglobin metabolic process, protein folding, 0 0 0 0 0 0 2 0 0 ENSG00000169884 chr12 48965340 48971763 - WNT10B protein_coding The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]. 7480 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0048018, GO:0005515, GO:0005125, GO:0005109, receptor ligand activity, protein binding, cytokine activity, frizzled binding, GO:0120163, GO:0090263, GO:0071425, GO:0071374, GO:0071320, GO:0071300, GO:0061196, GO:0060346, GO:0060070, GO:0060070, GO:0051885, GO:0051091, GO:0050909, GO:0050821, GO:0050680, GO:0048741, GO:0048641, GO:0045899, GO:0045669, GO:0045599, GO:0045165, GO:0043065, GO:0032434, GO:0030858, GO:0030501, GO:0030182, GO:0030182, GO:0016055, GO:0014835, GO:0010971, GO:0008284, GO:0007224, GO:0007050, GO:0006629, GO:0002062, GO:0000122, GO:0000086, negative regulation of cold-induced thermogenesis, positive regulation of canonical Wnt signaling pathway, hematopoietic stem cell proliferation, cellular response to parathyroid hormone stimulus, cellular response to cAMP, cellular response to retinoic acid, fungiform papilla development, bone trabecula formation, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of timing of anagen, positive regulation of DNA-binding transcription factor activity, sensory perception of taste, protein stabilization, negative regulation of epithelial cell proliferation, skeletal muscle fiber development, regulation of skeletal muscle tissue development, positive regulation of RNA polymerase II transcription preinitiation complex assembly, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, cell fate commitment, positive regulation of apoptotic process, regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of epithelial cell differentiation, positive regulation of bone mineralization, neuron differentiation, neuron differentiation, Wnt signaling pathway, myoblast differentiation involved in skeletal muscle regeneration, positive regulation of G2/M transition of mitotic cell cycle, positive regulation of cell population proliferation, smoothened signaling pathway, cell cycle arrest, lipid metabolic process, chondrocyte differentiation, negative regulation of transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, 9 3 17 20 5 40 26 2 15 ENSG00000169885 chr1 1914827 1917296 + CALML6 protein_coding 163688 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0030234, GO:0005515, GO:0005509, enzyme regulator activity, protein binding, calcium ion binding, GO:0050790, GO:0019722, GO:0000226, regulation of catalytic activity, calcium-mediated signaling, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000169891 chrX 16946691 17153280 + REPS2 protein_coding The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9185 GO:0005886, GO:0005829, GO:0005737, plasma membrane, cytosol, cytoplasm, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0065003, GO:0061024, GO:0016197, GO:0007173, GO:0006897, protein-containing complex assembly, membrane organization, endosomal transport, epidermal growth factor receptor signaling pathway, endocytosis, 1168 1023 1394 547 822 694 626 544 677 ENSG00000169894 chr7 100949555 100968346 + MUC3A protein_coding The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]. 4584 GO:0016021, GO:0005886, GO:0005796, GO:0005576, integral component of membrane, plasma membrane, Golgi lumen, extracellular region, GO:0030197, GO:0005201, extracellular matrix constituent, lubricant activity, extracellular matrix structural constituent, GO:0016266, GO:0002223, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 1 0 0 0 0 0 ENSG00000169895 chrX 16719632 16765336 + SYAP1 protein_coding 94056 GO:0070062, GO:0048471, GO:0045211, GO:0043204, GO:0042734, GO:0031234, GO:0030426, GO:0030425, GO:0030424, GO:0005829, GO:0005794, GO:0005654, extracellular exosome, perinuclear region of cytoplasm, postsynaptic membrane, perikaryon, presynaptic membrane, extrinsic component of cytoplasmic side of plasma membrane, growth cone, dendrite, axon, cytosol, Golgi apparatus, nucleoplasm, GO:0005515, protein binding, GO:1990314, GO:0071902, GO:0071364, GO:0045600, GO:0038203, GO:0036120, GO:0032869, GO:0030154, cellular response to insulin-like growth factor stimulus, positive regulation of protein serine/threonine kinase activity, cellular response to epidermal growth factor stimulus, positive regulation of fat cell differentiation, TORC2 signaling, cellular response to platelet-derived growth factor stimulus, cellular response to insulin stimulus, cell differentiation, 3063 3145 4316 2659 3145 3542 2615 2007 2300 ENSG00000169896 chr16 31259967 31332892 + ITGAM protein_coding This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 3684 GO:0070821, GO:0070062, GO:0044853, GO:0035579, GO:0034688, GO:0009986, GO:0009986, GO:0009897, GO:0008305, GO:0005886, GO:0005886, GO:0005615, tertiary granule membrane, extracellular exosome, plasma membrane raft, specific granule membrane, integrin alphaM-beta2 complex, cell surface, cell surface, external side of plasma membrane, integrin complex, plasma membrane, plasma membrane, extracellular space, GO:0046872, GO:0038024, GO:0038024, GO:0031072, GO:0005515, GO:0005178, GO:0001851, GO:0001540, metal ion binding, cargo receptor activity, cargo receptor activity, heat shock protein binding, protein binding, integrin binding, complement component C3b binding, amyloid-beta binding, GO:2000363, GO:1905114, GO:1904151, GO:1901216, GO:0150064, GO:0150062, GO:0110090, GO:0098742, GO:0097242, GO:0097190, GO:0090314, GO:0050900, GO:0045963, GO:0045087, GO:0043315, GO:0043312, GO:0034142, GO:0032930, GO:0032930, GO:0030900, GO:0030198, GO:0019221, GO:0010668, GO:0007229, GO:0007155, GO:0006911, GO:0006898, GO:0001774, positive regulation of prostaglandin-E synthase activity, cell surface receptor signaling pathway involved in cell-cell signaling, positive regulation of microglial cell mediated cytotoxicity, positive regulation of neuron death, vertebrate eye-specific patterning, complement-mediated synapse pruning, positive regulation of hippocampal neuron apoptotic process, cell-cell adhesion via plasma-membrane adhesion molecules, amyloid-beta clearance, apoptotic signaling pathway, positive regulation of protein targeting to membrane, leukocyte migration, negative regulation of dopamine metabolic process, innate immune response, positive regulation of neutrophil degranulation, neutrophil degranulation, toll-like receptor 4 signaling pathway, positive regulation of superoxide anion generation, positive regulation of superoxide anion generation, forebrain development, extracellular matrix organization, cytokine-mediated signaling pathway, ectodermal cell differentiation, integrin-mediated signaling pathway, cell adhesion, phagocytosis, engulfment, receptor-mediated endocytosis, microglial cell activation, 2616 3523 5055 1091 2436 2456 1460 1959 2213 ENSG00000169900 chr16 31215962 31217359 - PYDC1 protein_coding 260434 GO:0008385, GO:0005829, GO:0005634, IkappaB kinase complex, cytosol, nucleus, GO:0005515, GO:0004197, protein binding, cysteine-type endopeptidase activity, GO:1900226, GO:0045087, GO:0033209, GO:0032731, GO:0032691, GO:0032088, GO:0032088, GO:0010804, GO:0006508, GO:0006469, negative regulation of NLRP3 inflammasome complex assembly, innate immune response, tumor necrosis factor-mediated signaling pathway, positive regulation of interleukin-1 beta production, negative regulation of interleukin-1 beta production, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, negative regulation of tumor necrosis factor-mediated signaling pathway, proteolysis, negative regulation of protein kinase activity, 0 0 0 0 0 0 0 0 0 ENSG00000169902 chr7 66205199 66420543 + TPST1 protein_coding 8460 GO:0030173, GO:0016020, GO:0005794, GO:0000139, integral component of Golgi membrane, membrane, Golgi apparatus, Golgi membrane, GO:0042803, GO:0008476, GO:0008476, GO:0008146, protein homodimerization activity, protein-tyrosine sulfotransferase activity, protein-tyrosine sulfotransferase activity, sulfotransferase activity, GO:0050427, GO:0006954, GO:0006478, GO:0006478, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, inflammatory response, peptidyl-tyrosine sulfation, peptidyl-tyrosine sulfation, 225 136 173 152 152 98 191 108 118 ENSG00000169903 chr3 149473974 149503281 + TM4SF4 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011]. 7104 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0042246, tissue regeneration, 0 0 0 0 0 0 0 0 0 ENSG00000169905 chr1 179839967 179877803 - TOR1AIP2 protein_coding One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]. 163590 GO:0031965, GO:0016021, GO:0005789, GO:0005783, nuclear membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0051117, GO:0001671, ATPase binding, ATPase activator activity, GO:0090435, GO:0032781, GO:0007029, protein localization to nuclear envelope, positive regulation of ATPase activity, endoplasmic reticulum organization, 1283 1321 1456 555 948 986 743 627 743 ENSG00000169906 chrX 16650158 16654670 + S100G protein_coding This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008]. 795 GO:0016324, GO:0016323, GO:0005737, GO:0005615, apical plasma membrane, basolateral plasma membrane, cytoplasm, extracellular space, GO:0048306, GO:0046914, GO:0005515, GO:0005509, GO:0005499, calcium-dependent protein binding, transition metal ion binding, protein binding, calcium ion binding, vitamin D binding, 0 0 0 0 0 0 0 0 0 ENSG00000169908 chr3 149369022 149377865 - TM4SF1 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]. 4071 GO:0016021, GO:0005887, integral component of membrane, integral component of plasma membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, GO:0001825, biological_process, blastocyst formation, 0 0 0 6 0 0 0 1 0 ENSG00000169914 chr1 19882513 19912945 + OTUD3 protein_coding 23252 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0008234, GO:0005515, GO:0004843, GO:0004843, GO:0004843, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1990167, GO:1990167, GO:0071108, GO:0071108, GO:0051898, GO:0051898, GO:0050821, GO:0050821, GO:0050821, GO:0044313, GO:0044313, GO:0035871, GO:0035871, GO:0016579, GO:0016579, protein K27-linked deubiquitination, protein K27-linked deubiquitination, protein K48-linked deubiquitination, protein K48-linked deubiquitination, negative regulation of protein kinase B signaling, negative regulation of protein kinase B signaling, protein stabilization, protein stabilization, protein stabilization, protein K6-linked deubiquitination, protein K6-linked deubiquitination, protein K11-linked deubiquitination, protein K11-linked deubiquitination, protein deubiquitination, protein deubiquitination, 43 42 57 97 58 116 149 57 78 ENSG00000169918 chr15 31475398 31870789 - OTUD7A protein_coding The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]. 161725 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0070530, GO:0008270, GO:0008234, GO:0004843, GO:0004843, GO:0003677, K63-linked polyubiquitin modification-dependent protein binding, zinc ion binding, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, DNA binding, GO:0071947, GO:0071108, GO:0070536, GO:0043124, GO:0035871, GO:0035871, GO:0016579, protein deubiquitination involved in ubiquitin-dependent protein catabolic process, protein K48-linked deubiquitination, protein K63-linked deubiquitination, negative regulation of I-kappaB kinase/NF-kappaB signaling, protein K11-linked deubiquitination, protein K11-linked deubiquitination, protein deubiquitination, 0 1 5 2 0 0 0 0 1 ENSG00000169919 chr7 65960684 65982314 - GUSB protein_coding This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]. 2990 GO:1904813, GO:0070062, GO:0043231, GO:0043202, GO:0035578, GO:0016020, GO:0005615, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, intracellular membrane-bounded organelle, lysosomal lumen, azurophil granule lumen, membrane, extracellular space, extracellular space, extracellular region, GO:0030246, GO:0019904, GO:0005102, GO:0005102, GO:0004566, carbohydrate binding, protein domain specific binding, signaling receptor binding, signaling receptor binding, beta-glucuronidase activity, GO:0043312, GO:0030214, GO:0019391, GO:0006027, GO:0005975, neutrophil degranulation, hyaluronan catabolic process, glucuronoside catabolic process, glycosaminoglycan catabolic process, carbohydrate metabolic process, 214 449 358 160 438 319 186 351 243 ENSG00000169925 chr9 134030305 134068535 - BRD3 protein_coding This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]. 8019 GO:0005634, nucleus, GO:0070577, GO:0005515, GO:0003682, lysine-acetylated histone binding, protein binding, chromatin binding, GO:0006357, GO:0006325, regulation of transcription by RNA polymerase II, chromatin organization, 212 358 339 205 409 291 267 332 219 ENSG00000169926 chr15 31326855 31435665 + KLF13 protein_coding KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]. 51621 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045647, GO:0008285, GO:0006366, GO:0006357, positive regulation of transcription by RNA polymerase II, negative regulation of erythrocyte differentiation, negative regulation of cell population proliferation, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 85 273 317 48 226 194 70 184 145 ENSG00000169933 chrX 12138466 12724523 + FRMPD4 protein_coding This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]. 9758 GO:0043197, GO:0043197, GO:0032991, GO:0005856, dendritic spine, dendritic spine, protein-containing complex, cytoskeleton, GO:0005546, GO:0005546, GO:0005515, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0051835, positive regulation of synapse structural plasticity, 0 0 0 0 0 0 0 0 0 ENSG00000169946 chr8 104590733 105804532 + ZFPM2 protein_coding The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]. 23414 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0008270, GO:0008134, GO:0005515, GO:0003714, GO:0003713, GO:0003677, GO:0001085, zinc ion binding, transcription factor binding, protein binding, transcription corepressor activity, transcription coactivator activity, DNA binding, RNA polymerase II transcription factor binding, GO:2000195, GO:2000020, GO:0060548, GO:0060412, GO:0060045, GO:0048568, GO:0045944, GO:0045944, GO:0045892, GO:0045599, GO:0030324, GO:0030154, GO:0007596, GO:0007507, GO:0007506, GO:0003221, GO:0003148, GO:0001701, GO:0001570, GO:0000122, GO:0000122, negative regulation of female gonad development, positive regulation of male gonad development, negative regulation of cell death, ventricular septum morphogenesis, positive regulation of cardiac muscle cell proliferation, embryonic organ development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of fat cell differentiation, lung development, cell differentiation, blood coagulation, heart development, gonadal mesoderm development, right ventricular cardiac muscle tissue morphogenesis, outflow tract septum morphogenesis, in utero embryonic development, vasculogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000169951 chr16 30553764 30558498 - ZNF764 protein_coding 92595 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 56 34 68 38 33 56 45 69 31 ENSG00000169953 chrY 18731440 18828662 - HSFY2 protein_coding This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 159119 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000169955 chr16 30530367 30535347 - ZNF747 protein_coding 65988 GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 21 21 16 21 26 19 20 23 15 ENSG00000169957 chr16 30524001 30526821 - ZNF768 protein_coding 79724 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003723, GO:0000981, GO:0000977, metal ion binding, protein binding, RNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006366, GO:0006357, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 49 46 39 26 36 47 26 49 23 ENSG00000169962 chr1 1331314 1335306 + TAS1R3 protein_coding The protein encoded by this gene is a G-protein coupled receptor involved in taste responses. The encoded protein can form a heterodimeric receptor with TAS1R1 to elicit the umami taste response, or it can bind with TAS1R2 to form a receptor for the sweet taste response. [provided by RefSeq, Nov 2015]. 83756 GO:1903767, GO:0016021, GO:0005887, GO:0005886, sweet taste receptor complex, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0033041, GO:0033041, GO:0008527, GO:0008527, GO:0004930, sweet taste receptor activity, sweet taste receptor activity, taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0050917, GO:0050917, GO:0050916, GO:0050916, GO:0007186, GO:0007186, GO:0001582, sensory perception of umami taste, sensory perception of umami taste, sensory perception of sweet taste, sensory perception of sweet taste, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of sweet taste, 31 27 25 10 26 18 39 18 8 ENSG00000169964 chr3 44861869 44865670 + TMEM42 protein_coding 131616 GO:0016021, integral component of membrane, GO:0005515, protein binding, 7 16 28 10 15 20 14 8 19 ENSG00000169967 chr2 127298730 127388465 - MAP3K2 protein_coding The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008]. 10746 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0046872, GO:0019901, GO:0005524, GO:0005515, GO:0004709, GO:0004674, GO:0004672, metal ion binding, protein kinase binding, ATP binding, protein binding, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0071260, GO:0045893, GO:0007257, GO:0006468, GO:0000187, GO:0000186, cellular response to mechanical stimulus, positive regulation of transcription, DNA-templated, activation of JUN kinase activity, protein phosphorylation, activation of MAPK activity, activation of MAPKK activity, 5635 6455 9038 2684 5046 5270 3251 3626 4444 ENSG00000169972 chr1 1308567 1311677 + PUSL1 protein_coding 126789 GO:0043231, intracellular membrane-bounded organelle, GO:0009982, GO:0003723, pseudouridine synthase activity, RNA binding, GO:0031119, tRNA pseudouridine synthesis, 48 50 24 35 34 27 59 66 26 ENSG00000169976 chr6 144094881 144095573 - SF3B5 protein_coding 83443 GO:0071011, GO:0071005, GO:0005689, GO:0005686, GO:0005654, GO:0005654, GO:0005634, precatalytic spliceosome, U2-type precatalytic spliceosome, U12-type spliceosomal complex, U2 snRNP, nucleoplasm, nucleoplasm, nucleus, GO:1990935, GO:0005515, GO:0003723, splicing factor binding, protein binding, RNA binding, GO:0000398, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 340 280 352 169 252 263 173 293 236 ENSG00000169981 chr3 44648727 44660791 + ZNF35 protein_coding 7584 GO:0048471, GO:0005634, GO:0000785, perinuclear region of cytoplasm, nucleus, chromatin, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000977, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0071300, GO:0007283, GO:0006357, GO:0006355, cellular response to retinoic acid, spermatogenesis, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 4 2 4 7 7 3 7 1 5 ENSG00000169989 chr4 152769354 152779764 - TIGD4 protein_coding The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]. 201798 GO:0005634, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, 7 11 5 5 9 4 5 1 6 ENSG00000169991 chr1 18904281 18956686 - IFFO2 protein_coding 126917 GO:0005882, intermediate filament, 61 48 180 71 17 93 42 26 82 ENSG00000169992 chr17 7404874 7419860 + NLGN2 protein_coding This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]. 57555 GO:0099060, GO:0099055, GO:0098983, GO:0098691, GO:0098690, GO:0089717, GO:0060077, GO:0045211, GO:0045202, GO:0045202, GO:0042995, GO:0042734, GO:0016020, GO:0009986, GO:0009986, GO:0005887, GO:0005886, integral component of postsynaptic specialization membrane, integral component of postsynaptic membrane, symmetric, GABA-ergic, inhibitory synapse, dopaminergic synapse, glycinergic synapse, spanning component of membrane, inhibitory synapse, postsynaptic membrane, synapse, synapse, cell projection, presynaptic membrane, membrane, cell surface, cell surface, integral component of plasma membrane, plasma membrane, GO:0050839, GO:0042802, GO:0042043, GO:0042043, GO:0042043, GO:0038023, cell adhesion molecule binding, identical protein binding, neurexin family protein binding, neurexin family protein binding, neurexin family protein binding, signaling receptor activity, GO:2000809, GO:2000463, GO:2000311, GO:1904862, GO:1902474, GO:0099054, GO:0098609, GO:0097151, GO:0097119, GO:0097116, GO:0097105, GO:0097105, GO:0097104, GO:0097104, GO:0072553, GO:0051968, GO:0051965, GO:0050885, GO:0050808, GO:0050804, GO:0050804, GO:0048488, GO:0045217, GO:0035641, GO:0035418, GO:0032230, GO:0032024, GO:0019233, GO:0007416, GO:0007416, GO:0007268, GO:0007158, GO:0007158, GO:0002087, positive regulation of synaptic vesicle clustering, positive regulation of excitatory postsynaptic potential, regulation of AMPA receptor activity, inhibitory synapse assembly, positive regulation of protein localization to synapse, presynapse assembly, cell-cell adhesion, positive regulation of inhibitory postsynaptic potential, postsynaptic density protein 95 clustering, gephyrin clustering involved in postsynaptic density assembly, presynaptic membrane assembly, presynaptic membrane assembly, postsynaptic membrane assembly, postsynaptic membrane assembly, terminal button organization, positive regulation of synaptic transmission, glutamatergic, positive regulation of synapse assembly, neuromuscular process controlling balance, synapse organization, modulation of chemical synaptic transmission, modulation of chemical synaptic transmission, synaptic vesicle endocytosis, cell-cell junction maintenance, locomotory exploration behavior, protein localization to synapse, positive regulation of synaptic transmission, GABAergic, positive regulation of insulin secretion, sensory perception of pain, synapse assembly, synapse assembly, chemical synaptic transmission, neuron cell-cell adhesion, neuron cell-cell adhesion, regulation of respiratory gaseous exchange by nervous system process, 4 3 15 33 0 20 21 4 9 ENSG00000169994 chr2 127535802 127637729 + MYO7B protein_coding The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]. 4648 GO:0090651, GO:0031982, GO:0016459, GO:0015629, GO:0005903, GO:0005902, GO:0005902, GO:0005737, apical cytoplasm, vesicle, myosin complex, actin cytoskeleton, brush border, microvillus, microvillus, cytoplasm, GO:0051015, GO:0030898, GO:0005524, GO:0005515, GO:0000146, actin filament binding, actin-dependent ATPase activity, ATP binding, protein binding, microfilament motor activity, GO:1904970, GO:0030154, GO:0030050, GO:0007605, GO:0007423, GO:0007015, brush border assembly, cell differentiation, vesicle transport along actin filament, sensory perception of sound, sensory organ development, actin filament organization, 98 251 203 40 120 57 20 150 53 ENSG00000170004 chr17 7884806 7912760 + CHD3 protein_coding This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 1107 GO:0034451, GO:0016605, GO:0016581, GO:0016581, GO:0005813, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, centriolar satellite, PML body, NuRD complex, NuRD complex, centrosome, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0070615, GO:0036121, GO:0016887, GO:0008270, GO:0005524, GO:0005515, GO:0004386, GO:0003723, GO:0003678, GO:0003677, GO:0000976, nucleosome-dependent ATPase activity, double-stranded DNA helicase activity, ATPase activity, zinc ion binding, ATP binding, protein binding, helicase activity, RNA binding, DNA helicase activity, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901796, GO:0043044, GO:0032508, GO:0007098, GO:0007051, GO:0006357, GO:0006355, GO:0006333, GO:0000122, regulation of signal transduction by p53 class mediator, ATP-dependent chromatin remodeling, DNA duplex unwinding, centrosome cycle, spindle organization, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin assembly or disassembly, negative regulation of transcription by RNA polymerase II, 1358 805 2169 1780 926 2135 1621 667 1646 ENSG00000170006 chr4 152618632 152680165 - TMEM154 protein_coding 201799 GO:0016021, integral component of membrane, GO:0005515, protein binding, 11701 11093 15770 4086 7943 6383 5840 6337 6029 ENSG00000170011 chr3 39808914 40260321 + MYRIP protein_coding 25924 GO:0048471, GO:0045202, GO:0042470, GO:0031045, GO:0030864, GO:0030133, GO:0001750, GO:0000145, perinuclear region of cytoplasm, synapse, melanosome, dense core granule, cortical actin cytoskeleton, transport vesicle, photoreceptor outer segment, exocyst, GO:0051018, GO:0031267, GO:0017022, GO:0008270, GO:0005515, GO:0003779, protein kinase A binding, small GTPase binding, myosin binding, zinc ion binding, protein binding, actin binding, GO:0032024, GO:0006886, positive regulation of insulin secretion, intracellular protein transport, 2 2 4 0 1 6 4 8 3 ENSG00000170017 chr3 105366909 105576900 + ALCAM protein_coding This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]. 214 GO:0070062, GO:0043025, GO:0042101, GO:0031226, GO:0030425, GO:0030424, GO:0009897, GO:0005925, GO:0005887, GO:0001772, extracellular exosome, neuronal cell body, T cell receptor complex, intrinsic component of plasma membrane, dendrite, axon, external side of plasma membrane, focal adhesion, integral component of plasma membrane, immunological synapse, GO:0042802, GO:0005515, GO:0005102, identical protein binding, protein binding, signaling receptor binding, GO:1990138, GO:0048846, GO:0031290, GO:0008045, GO:0007165, GO:0007157, GO:0007155, GO:0002250, neuron projection extension, axon extension involved in axon guidance, retinal ganglion cell axon guidance, motor neuron axon guidance, signal transduction, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, cell adhesion, adaptive immune response, 481 440 348 319 472 260 365 285 234 ENSG00000170027 chr7 76326794 76359031 - YWHAG protein_coding This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]. 7532 GO:0098793, GO:0070062, GO:0016020, GO:0005925, GO:0005829, GO:0005739, presynapse, extracellular exosome, membrane, focal adhesion, cytosol, mitochondrion, GO:0042802, GO:0030971, GO:0019904, GO:0008426, GO:0005515, GO:0005159, GO:0005080, GO:0003723, identical protein binding, receptor tyrosine kinase binding, protein domain specific binding, protein kinase C inhibitor activity, protein binding, insulin-like growth factor receptor binding, protein kinase C binding, RNA binding, GO:1900740, GO:0097711, GO:0071901, GO:0061024, GO:0048167, GO:0045664, GO:0032869, GO:0010389, GO:0009966, GO:0006605, GO:0006469, GO:0000086, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, ciliary basal body-plasma membrane docking, negative regulation of protein serine/threonine kinase activity, membrane organization, regulation of synaptic plasticity, regulation of neuron differentiation, cellular response to insulin stimulus, regulation of G2/M transition of mitotic cell cycle, regulation of signal transduction, protein targeting, negative regulation of protein kinase activity, G2/M transition of mitotic cell cycle, 832 773 1118 444 484 806 513 369 585 ENSG00000170035 chr2 180967248 181076585 + UBE2E3 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013]. 10477 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0061631, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0070979, GO:0070979, GO:0070936, GO:0070936, GO:0070534, GO:0070534, GO:0040008, GO:0016567, GO:0000209, protein K11-linked ubiquitination, protein K11-linked ubiquitination, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein K63-linked ubiquitination, protein K63-linked ubiquitination, regulation of growth, protein ubiquitination, protein polyubiquitination, 161 112 191 91 104 94 76 95 129 ENSG00000170037 chr17 7932101 7949918 + CNTROB protein_coding This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 116840 GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005813, cytosol, centriole, centriole, centrosome, centrosome, centrosome, GO:0019904, GO:0005515, protein domain specific binding, protein binding, GO:1902410, GO:1902410, GO:1902017, GO:0051299, GO:0051299, GO:0007099, GO:0007099, mitotic cytokinetic process, mitotic cytokinetic process, regulation of cilium assembly, centrosome separation, centrosome separation, centriole replication, centriole replication, 202 190 300 243 174 274 224 162 248 ENSG00000170043 chr17 7930345 7932123 - TRAPPC1 protein_coding This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. 58485 GO:0035578, GO:0030008, GO:0005829, GO:0005783, GO:0005576, GO:0000139, azurophil granule lumen, TRAPP complex, cytosol, endoplasmic reticulum, extracellular region, Golgi membrane, GO:0005515, protein binding, GO:0048208, GO:0043312, GO:0006888, COPII vesicle coating, neutrophil degranulation, endoplasmic reticulum to Golgi vesicle-mediated transport, 280 283 369 100 227 136 151 218 154 ENSG00000170044 chr3 102099244 102479841 + ZPLD1 protein_coding 131368 GO:0030659, GO:0016021, GO:0009986, GO:0005615, cytoplasmic vesicle membrane, integral component of membrane, cell surface, extracellular space, GO:0005201, extracellular matrix structural constituent, 0 0 0 0 0 0 0 0 0 ENSG00000170049 chr17 7921859 7929803 - KCNAB3 protein_coding This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]. 9196 GO:0008076, GO:0005886, GO:0005737, voltage-gated potassium channel complex, plasma membrane, cytoplasm, GO:0044325, GO:0015459, GO:0005515, GO:0005249, GO:0004033, ion channel binding, potassium channel regulator activity, protein binding, voltage-gated potassium channel activity, aldo-keto reductase (NADP) activity, GO:1901379, GO:0071805, GO:0055114, GO:0006813, regulation of potassium ion transmembrane transport, potassium ion transmembrane transport, oxidation-reduction process, potassium ion transport, 42 42 61 91 58 170 75 66 109 ENSG00000170054 chr14 94462717 94479689 - SERPINA9 protein_coding 327657 GO:0016020, GO:0005737, GO:0005615, membrane, cytoplasm, extracellular space, GO:0004867, GO:0004867, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 2 0 0 1 2 1 2 5 ENSG00000170074 chr5 177707981 177783398 - FAM153A protein_coding 285596 GO:0005515, protein binding, 16 5 15 88 11 15 58 6 21 ENSG00000170075 chr1 202122858 202133592 + GPR37L1 protein_coding 9283 GO:0060170, GO:0043235, GO:0043235, GO:0016021, GO:0005886, GO:0005886, GO:0005886, ciliary membrane, receptor complex, receptor complex, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0042277, GO:0036505, GO:0036505, GO:0008528, GO:0008528, GO:0005515, GO:0004930, peptide binding, prosaposin receptor activity, prosaposin receptor activity, G protein-coupled peptide receptor activity, G protein-coupled peptide receptor activity, protein binding, G protein-coupled receptor activity, GO:1903206, GO:0048712, GO:0045879, GO:0045665, GO:0043410, GO:0043410, GO:0021940, GO:0007193, GO:0007193, GO:0007186, GO:0003085, negative regulation of hydrogen peroxide-induced cell death, negative regulation of astrocyte differentiation, negative regulation of smoothened signaling pathway, negative regulation of neuron differentiation, positive regulation of MAPK cascade, positive regulation of MAPK cascade, positive regulation of cerebellar granule cell precursor proliferation, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, negative regulation of systemic arterial blood pressure, 34 14 33 28 54 28 32 44 36 ENSG00000170085 chr5 176238367 176345991 + SIMC1 protein_coding 375484 GO:0032184, GO:0032184, SUMO polymer binding, SUMO polymer binding, 10 12 20 18 8 14 28 10 36 ENSG00000170088 chr4 165070608 165208549 - TMEM192 protein_coding 201931 GO:0048471, GO:0016021, GO:0005886, GO:0005794, GO:0005783, GO:0005770, GO:0005770, GO:0005768, GO:0005765, GO:0005765, GO:0005764, GO:0005654, GO:0005634, perinuclear region of cytoplasm, integral component of membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, late endosome, late endosome, endosome, lysosomal membrane, lysosomal membrane, lysosome, nucleoplasm, nucleus, GO:0042803, protein homodimerization activity, 31 22 58 49 38 52 38 19 40 ENSG00000170089 chr5 177809407 177950732 + AC106795.1 transcribed_unprocessed_pseudogene 1 1 3 0 0 0 3 0 0 ENSG00000170091 chr5 174045604 174243501 + NSG2 protein_coding 51617 GO:1990674, GO:0043202, GO:0032588, GO:0032585, GO:0031901, GO:0030659, GO:0030425, GO:0016021, GO:0005794, GO:0005770, GO:0005769, GO:0005768, GO:0005768, Golgi cis cisterna membrane, lysosomal lumen, trans-Golgi network membrane, multivesicular body membrane, early endosome membrane, cytoplasmic vesicle membrane, dendrite, integral component of membrane, Golgi apparatus, late endosome, early endosome, endosome, endosome, GO:0032051, GO:0005515, clathrin light chain binding, protein binding, GO:0048268, GO:0016197, GO:0007212, clathrin coat assembly, endosomal transport, dopamine receptor signaling pathway, 0 5 2 6 4 15 0 4 2 ENSG00000170092 chr7 75493625 75504304 + SPDYE5 protein_coding 442590 GO:0019901, protein kinase binding, 9 7 15 2 13 12 12 4 3 ENSG00000170099 chr14 94304248 94323394 - SERPINA6 protein_coding This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]. 866 GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, GO:0005496, GO:0004867, steroid binding, serine-type endopeptidase inhibitor activity, GO:0010951, GO:0008211, negative regulation of endopeptidase activity, glucocorticoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000170100 chr16 89217703 89237071 + ZNF778 protein_coding The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]. 197320 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 38 28 34 52 59 52 52 29 41 ENSG00000170113 chr15 22773063 22829791 + NIPA1 protein_coding This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]. 123606 GO:0016021, GO:0016020, GO:0005886, GO:0005769, integral component of membrane, membrane, plasma membrane, early endosome, GO:0015095, GO:0005515, magnesium ion transmembrane transporter activity, protein binding, GO:1903830, GO:0055085, GO:0015693, magnesium ion transmembrane transport, transmembrane transport, magnesium ion transport, 14 20 28 39 14 22 49 18 46 ENSG00000170122 chr9 116231 118204 - FOXD4 protein_coding This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012]. 2298 GO:0000785, GO:0000785, chromatin, chromatin, GO:0043565, GO:0008301, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, DNA binding, bending, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 2 0 2 0 0 0 0 0 ENSG00000170128 chr1 200872955 200874178 + GPR25 protein_coding This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. This gene has been linked to arterial stiffness. [provided by RefSeq, Nov 2012]. 2848 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0007186, GO:0007186, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 2 6 14 3 4 6 0 0 ENSG00000170142 chr3 23805903 23891316 + UBE2E1 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 7324 GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000151, cytosol, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, GO:0061631, GO:0061631, GO:0042296, GO:0042296, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ISG15 transferase activity, ISG15 transferase activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:1901990, GO:0070936, GO:0070936, GO:0033523, GO:0033523, GO:0032020, GO:0032020, GO:0031145, GO:0016567, GO:0016567, GO:0010390, GO:0006511, GO:0000209, GO:0000209, regulation of mitotic cell cycle phase transition, protein K48-linked ubiquitination, protein K48-linked ubiquitination, histone H2B ubiquitination, histone H2B ubiquitination, ISG15-protein conjugation, ISG15-protein conjugation, anaphase-promoting complex-dependent catabolic process, protein ubiquitination, protein ubiquitination, histone monoubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, protein polyubiquitination, 138 108 192 159 156 157 128 111 126 ENSG00000170144 chr2 177212563 177223958 + HNRNPA3 protein_coding 220988 GO:1990904, GO:1990124, GO:0071013, GO:0043005, GO:0035770, GO:0005737, GO:0005654, GO:0005654, GO:0005634, ribonucleoprotein complex, messenger ribonucleoprotein complex, catalytic step 2 spliceosome, neuron projection, ribonucleoprotein granule, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0051033, GO:0005515, GO:0003729, GO:0003723, RNA transmembrane transporter activity, protein binding, mRNA binding, RNA binding, GO:0051028, GO:0016070, GO:0000398, GO:0000398, mRNA transport, RNA metabolic process, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 3422 3592 4105 8952 11365 11268 10019 8052 8890 ENSG00000170145 chr11 111602391 111730853 + SIK2 protein_coding 23235 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0046777, GO:0046626, GO:0042149, GO:0035556, GO:0035556, GO:0006468, GO:0006468, protein autophosphorylation, regulation of insulin receptor signaling pathway, cellular response to glucose starvation, intracellular signal transduction, intracellular signal transduction, protein phosphorylation, protein phosphorylation, 92 78 117 105 89 135 109 85 123 ENSG00000170152 chr9 61861853 61862567 - AL391987.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000170153 chr4 140859807 141212877 - RNF150 protein_coding 57484 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0016567, GO:0006511, protein ubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000170160 chr17 16689537 16777881 + CCDC144A protein_coding 9720 0 3 0 5 0 0 0 0 1 ENSG00000170161 chr9 62897449 62900104 + AL512625.1 lincRNA 554249 GO:0005515, protein binding, 4 0 1 8 3 0 4 1 0 ENSG00000170162 chr6 117265558 117273565 + VGLL2 protein_coding This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]. 245806 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0008022, GO:0005515, GO:0003713, protein C-terminus binding, protein binding, transcription coactivator activity, GO:0045944, GO:0007519, GO:0006357, positive regulation of transcription by RNA polymerase II, skeletal muscle tissue development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000170165 chr9 42901238 42920095 + CR848007.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000170166 chr2 176151222 176153226 + HOXD4 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]. 3233 GO:0030054, GO:0005654, GO:0005634, GO:0000785, cell junction, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048704, GO:0045944, GO:0009952, GO:0007275, GO:0006357, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, anterior/posterior pattern specification, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000170175 chr17 7445061 7457707 + CHRNB1 protein_coding The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]. 1140 GO:0045211, GO:0045202, GO:0045202, GO:0043005, GO:0031594, GO:0031594, GO:0005892, GO:0005887, GO:0005887, postsynaptic membrane, synapse, synapse, neuron projection, neuromuscular junction, neuromuscular junction, acetylcholine-gated channel complex, integral component of plasma membrane, integral component of plasma membrane, GO:1904315, GO:1904315, GO:0042166, GO:0030594, GO:0022848, GO:0015464, GO:0015276, GO:0015267, GO:0005515, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, ligand-gated ion channel activity, channel activity, protein binding, GO:0060079, GO:0050877, GO:0050877, GO:0048747, GO:0042391, GO:0042391, GO:0035095, GO:0034220, GO:0007274, GO:0007271, GO:0007268, GO:0007165, GO:0007165, GO:0006936, GO:0006812, GO:0003009, GO:0001941, excitatory postsynaptic potential, nervous system process, nervous system process, muscle fiber development, regulation of membrane potential, regulation of membrane potential, behavioral response to nicotine, ion transmembrane transport, neuromuscular synaptic transmission, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, signal transduction, muscle contraction, cation transport, skeletal muscle contraction, postsynaptic membrane organization, 9 6 13 12 9 13 22 4 12 ENSG00000170178 chr2 176099730 176101193 + HOXD12 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]. 3238 GO:0005667, GO:0000785, transcription regulator complex, chromatin, GO:1990837, GO:1990837, GO:0005515, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0042733, GO:0007389, GO:0006357, GO:0001501, embryonic digit morphogenesis, pattern specification process, regulation of transcription by RNA polymerase II, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000170180 chr4 144109303 144140786 - GYPA protein_coding Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]. 2993 GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005654, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, GO:0042802, GO:0005515, GO:0001618, identical protein binding, protein binding, virus receptor activity, GO:0050900, GO:0046718, leukocyte migration, viral entry into host cell, 0 0 0 0 0 0 0 0 0 ENSG00000170185 chr4 143184917 143223830 + USP38 protein_coding 84640 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, GO:0004843, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0016579, GO:0016579, GO:0006511, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, 959 755 940 485 508 808 561 455 602 ENSG00000170190 chr17 75087727 75106162 + SLC16A5 protein_coding This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 9121 GO:0016021, GO:0016020, GO:0005887, integral component of membrane, membrane, integral component of plasma membrane, GO:0015293, GO:0008028, GO:0005515, symporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, GO:0055085, GO:0015718, transmembrane transport, monocarboxylic acid transport, 283 328 308 200 351 192 280 356 221 ENSG00000170191 chr20 25612935 25624175 - NANP protein_coding 140838 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0050124, N-acylneuraminate-9-phosphatase activity, GO:0046380, GO:0016311, GO:0006045, GO:0005975, N-acetylneuraminate biosynthetic process, dephosphorylation, N-acetylglucosamine biosynthetic process, carbohydrate metabolic process, 4 3 8 9 4 3 6 2 5 ENSG00000170209 chr11 113387791 113400418 + ANKK1 protein_coding The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]. 255239 GO:0042995, GO:0005737, GO:0005634, cell projection, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, GO:0010564, GO:0006468, regulation of cell cycle process, protein phosphorylation, 0 1 2 1 4 0 0 3 2 ENSG00000170214 chr5 159865080 159972544 + ADRA1B protein_coding Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008]. 147 GO:0031965, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005737, GO:0005634, nuclear membrane, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0046982, GO:0005515, GO:0004937, GO:0004930, protein heterodimerization activity, protein binding, alpha1-adrenergic receptor activity, G protein-coupled receptor activity, GO:0150099, GO:0071880, GO:0055117, GO:0045907, GO:0043410, GO:0043410, GO:0035556, GO:0007267, GO:0007204, GO:0007200, GO:0007188, GO:0007186, GO:0001996, neuron-glial cell signaling, adenylate cyclase-activating adrenergic receptor signaling pathway, regulation of cardiac muscle contraction, positive regulation of vasoconstriction, positive regulation of MAPK cascade, positive regulation of MAPK cascade, intracellular signal transduction, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, positive regulation of heart rate by epinephrine-norepinephrine, 0 0 0 0 0 0 0 0 0 ENSG00000170222 chr17 10697594 10711233 + ADPRM protein_coding 56985 GO:0005829, cytosol, GO:0047734, GO:0047631, GO:0030145, GO:0008663, CDP-glycerol diphosphatase activity, ADP-ribose diphosphatase activity, manganese ion binding, 2',3'-cyclic-nucleotide 2'-phosphodiesterase activity, GO:0034656, nucleobase-containing small molecule catabolic process, 57 21 72 33 32 43 22 19 17 ENSG00000170231 chr5 160187367 160238735 + FABP6 protein_coding This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]. 2172 GO:0016020, GO:0005829, GO:0005737, membrane, cytosol, cytoplasm, GO:0008289, lipid binding, GO:0019433, GO:0008285, GO:0006869, GO:0006629, triglyceride catabolic process, negative regulation of cell population proliferation, lipid transport, lipid metabolic process, 20 28 17 20 57 35 43 35 57 ENSG00000170234 chr5 160061801 160119423 - PWWP2A protein_coding 114825 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, 262 274 301 205 242 385 284 276 289 ENSG00000170236 chr15 50500562 50546708 - USP50 protein_coding 373509 GO:0043197, GO:0031313, GO:0030496, GO:0019897, GO:0014069, GO:0005829, dendritic spine, extrinsic component of endosome membrane, midbody, extrinsic component of plasma membrane, postsynaptic density, cytosol, GO:0019783, GO:0004843, ubiquitin-like protein-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:2001056, GO:1900227, GO:0071108, GO:0070536, GO:0035063, GO:0032741, GO:0032731, GO:0016579, GO:0007265, GO:0007032, GO:0006511, positive regulation of cysteine-type endopeptidase activity, positive regulation of NLRP3 inflammasome complex assembly, protein K48-linked deubiquitination, protein K63-linked deubiquitination, nuclear speck organization, positive regulation of interleukin-18 production, positive regulation of interleukin-1 beta production, protein deubiquitination, Ras protein signal transduction, endosome organization, ubiquitin-dependent protein catabolic process, 31 18 34 19 29 34 17 29 35 ENSG00000170242 chr11 11841423 11959323 + USP47 protein_coding 55031 GO:0019005, GO:0005829, GO:0005737, GO:0005654, GO:0005634, SCF ubiquitin ligase complex, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0101005, GO:0071987, GO:0005515, GO:0004843, GO:0004843, GO:0004197, ubiquitinyl hydrolase activity, WD40-repeat domain binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:1902230, GO:0090263, GO:0045892, GO:0043154, GO:0043066, GO:0042493, GO:0035520, GO:0034644, GO:0031647, GO:0030307, GO:0016579, GO:0016579, GO:0010972, GO:0006974, GO:0006511, GO:0006284, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, positive regulation of canonical Wnt signaling pathway, negative regulation of transcription, DNA-templated, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, response to drug, monoubiquitinated protein deubiquitination, cellular response to UV, regulation of protein stability, positive regulation of cell growth, protein deubiquitination, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, base-excision repair, 334 232 783 386 253 450 378 208 327 ENSG00000170248 chr3 33798352 33869707 + PDCD6IP protein_coding This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]. 10015 GO:1903561, GO:0090543, GO:0070971, GO:0070062, GO:0070062, GO:0043231, GO:0042641, GO:0042470, GO:0016020, GO:0005925, GO:0005923, GO:0005829, GO:0005815, GO:0001772, extracellular vesicle, Flemming body, endoplasmic reticulum exit site, extracellular exosome, extracellular exosome, intracellular membrane-bounded organelle, actomyosin, melanosome, membrane, focal adhesion, bicellular tight junction, cytosol, microtubule organizing center, immunological synapse, GO:0048306, GO:0042803, GO:0031871, GO:0005515, calcium-dependent protein binding, protein homodimerization activity, proteinase activated receptor binding, protein binding, GO:1903553, GO:1903551, GO:1903543, GO:1901673, GO:0090611, GO:0090559, GO:0070830, GO:0061952, GO:0051260, GO:0046755, GO:0045199, GO:0039702, GO:0039702, GO:0036258, GO:0019058, GO:0015031, GO:0010824, GO:0007080, GO:0006997, GO:0006915, GO:0000915, GO:0000281, positive regulation of extracellular exosome assembly, regulation of extracellular exosome assembly, positive regulation of exosomal secretion, regulation of mitotic spindle assembly, ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway, regulation of membrane permeability, bicellular tight junction assembly, midbody abscission, protein homooligomerization, viral budding, maintenance of epithelial cell apical/basal polarity, viral budding via host ESCRT complex, viral budding via host ESCRT complex, multivesicular body assembly, viral life cycle, protein transport, regulation of centrosome duplication, mitotic metaphase plate congression, nucleus organization, apoptotic process, actomyosin contractile ring assembly, mitotic cytokinesis, 1310 1134 1647 974 1123 1344 1116 880 1030 ENSG00000170255 chr11 18933813 18939507 - MRGPRX1 protein_coding 259249 GO:0016021, GO:0009986, GO:0005886, integral component of membrane, cell surface, plasma membrane, GO:0004930, GO:0004888, G protein-coupled receptor activity, transmembrane signaling receptor activity, GO:1902349, GO:0007186, GO:0007166, GO:0007165, GO:0006953, response to chloroquine, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, acute-phase response, 0 0 0 0 0 0 0 0 0 ENSG00000170260 chr7 149239651 149255609 + ZNF212 protein_coding This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]. 7988 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0042802, GO:0008270, GO:0005515, GO:0003700, GO:0000978, identical protein binding, zinc ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 44 57 58 60 87 52 67 60 56 ENSG00000170262 chr21 32291813 32314784 + MRAP protein_coding This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]. 56246 GO:0016021, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0070996, GO:0070996, GO:0042802, GO:0031783, GO:0031783, GO:0031782, GO:0031782, GO:0031781, GO:0031781, GO:0031780, GO:0031780, GO:0030545, GO:0005515, type 1 melanocortin receptor binding, type 1 melanocortin receptor binding, identical protein binding, type 5 melanocortin receptor binding, type 5 melanocortin receptor binding, type 4 melanocortin receptor binding, type 4 melanocortin receptor binding, type 3 melanocortin receptor binding, type 3 melanocortin receptor binding, corticotropin hormone receptor binding, corticotropin hormone receptor binding, receptor regulator activity, protein binding, GO:1903077, GO:0106072, GO:0106071, GO:0106070, GO:0072659, GO:0072659, negative regulation of protein localization to plasma membrane, negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway, protein localization to plasma membrane, protein localization to plasma membrane, 3 0 1 4 0 7 0 1 4 ENSG00000170264 chr2 61824854 61854143 - FAM161A protein_coding This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]. 84140 GO:0097431, GO:0072686, GO:0036064, GO:0032391, GO:0032391, GO:0005929, GO:0005876, GO:0005813, GO:0001917, GO:0000235, mitotic spindle pole, mitotic spindle, ciliary basal body, photoreceptor connecting cilium, photoreceptor connecting cilium, cilium, spindle microtubule, centrosome, photoreceptor inner segment, astral microtubule, GO:0042802, GO:0042802, GO:0008017, GO:0005515, identical protein binding, identical protein binding, microtubule binding, protein binding, GO:1901985, GO:0060271, GO:0050896, GO:0044782, GO:0007601, positive regulation of protein acetylation, cilium assembly, response to stimulus, cilium organization, visual perception, 2 3 4 9 0 8 0 1 2 ENSG00000170265 chr7 149195485 149226248 + ZNF282 protein_coding 8427 GO:0000785, chromatin, GO:1990837, GO:0008270, GO:0001227, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, zinc ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, GO:0006355, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 95 92 85 134 140 131 111 135 91 ENSG00000170266 chr3 32996608 33097230 - GLB1 protein_coding This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]. 2720 GO:1904813, GO:0070062, GO:0048471, GO:0043231, GO:0043202, GO:0035578, GO:0005794, GO:0005773, GO:0005737, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, lysosomal lumen, azurophil granule lumen, Golgi apparatus, vacuole, cytoplasm, extracellular region, GO:0042803, GO:0016936, GO:0005515, GO:0004565, GO:0004565, GO:0004565, GO:0004565, protein homodimerization activity, galactoside binding, protein binding, beta-galactosidase activity, beta-galactosidase activity, beta-galactosidase activity, beta-galactosidase activity, GO:1904016, GO:0051413, GO:0044262, GO:0043312, GO:0042340, GO:0019388, GO:0006687, GO:0006027, response to Thyroglobulin triiodothyronine, response to cortisone, cellular carbohydrate metabolic process, neutrophil degranulation, keratan sulfate catabolic process, galactose catabolic process, glycosphingolipid metabolic process, glycosaminoglycan catabolic process, 283 317 388 126 257 187 147 210 124 ENSG00000170270 chr14 93202894 93207094 - GON7 protein_coding 84520 GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0000408, GO:0000408, cytosol, nucleolus, nucleoplasm, nucleus, EKC/KEOPS complex, EKC/KEOPS complex, GO:0005515, protein binding, 0 0 0 0 1 0 1 0 0 ENSG00000170271 chr5 154818491 154859252 - FAXDC2 protein_coding 10826 GO:0016021, GO:0016020, GO:0005789, GO:0005737, integral component of membrane, membrane, endoplasmic reticulum membrane, cytoplasm, GO:0016491, GO:0005515, GO:0005506, GO:0000254, oxidoreductase activity, protein binding, iron ion binding, C-4 methylsterol oxidase activity, GO:0055114, GO:0045654, GO:0016126, GO:0001934, oxidation-reduction process, positive regulation of megakaryocyte differentiation, sterol biosynthetic process, positive regulation of protein phosphorylation, 100 133 121 42 76 116 59 90 70 ENSG00000170275 chr3 33113979 33147773 + CRTAP protein_coding The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]. 10491 GO:0032991, GO:0005788, GO:0005783, GO:0005783, GO:0005615, protein-containing complex, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, extracellular space, GO:0005518, GO:0005515, collagen binding, protein binding, GO:1901874, GO:0061077, GO:0050821, GO:0030199, GO:0018400, GO:0007283, negative regulation of post-translational protein modification, chaperone-mediated protein folding, protein stabilization, collagen fibril organization, peptidyl-proline hydroxylation to 3-hydroxy-L-proline, spermatogenesis, 198 247 290 157 179 247 170 127 203 ENSG00000170276 chr11 111912242 111914093 + HSPB2 protein_coding The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]. 3316 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0008047, GO:0005515, GO:0005212, enzyme activator activity, protein binding, structural constituent of eye lens, GO:0043085, GO:0006986, positive regulation of catalytic activity, response to unfolded protein, 0 0 0 0 0 0 0 0 0 ENSG00000170279 chr7 148590565 148615860 + C7orf33 protein_coding 202865 0 0 0 0 0 0 0 0 0 ENSG00000170289 chr8 86553977 86743675 - CNGB3 protein_coding This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]. 54714 GO:1902495, GO:0001750, transmembrane transporter complex, photoreceptor outer segment, GO:0030553, GO:0030553, GO:0005223, GO:0005223, GO:0005222, cGMP binding, cGMP binding, intracellular cGMP-activated cation channel activity, intracellular cGMP-activated cation channel activity, intracellular cAMP-activated cation channel activity, GO:0098655, GO:0007601, GO:0007165, GO:0006812, cation transmembrane transport, visual perception, signal transduction, cation transport, 0 0 0 0 2 0 3 0 3 ENSG00000170290 chr11 107707378 107719693 - SLN protein_coding Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq, Jul 2008]. 6588 GO:0033017, GO:0016529, GO:0016021, sarcoplasmic reticulum membrane, sarcoplasmic reticulum, integral component of membrane, GO:0051117, GO:0005515, GO:0004857, ATPase binding, protein binding, enzyme inhibitor activity, GO:1901894, GO:1901881, GO:1901877, GO:1901077, GO:1901020, GO:0120162, GO:0090281, GO:0070296, GO:0051924, GO:0043242, GO:0043086, GO:0006816, regulation of ATPase-coupled calcium transmembrane transporter activity, positive regulation of protein depolymerization, negative regulation of calcium ion binding, regulation of relaxation of muscle, negative regulation of calcium ion transmembrane transporter activity, positive regulation of cold-induced thermogenesis, negative regulation of calcium ion import, sarcoplasmic reticulum calcium ion transport, regulation of calcium ion transport, negative regulation of protein-containing complex disassembly, negative regulation of catalytic activity, calcium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000170291 chr17 7251416 7259940 + ELP5 protein_coding 23587 GO:0033588, GO:0033588, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, elongator holoenzyme complex, elongator holoenzyme complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0000049, protein binding, tRNA binding, GO:0030335, GO:0006400, GO:0002098, positive regulation of cell migration, tRNA modification, tRNA wobble uridine modification, 199 219 206 96 132 135 103 111 118 ENSG00000170293 chr3 32238679 32370325 + CMTM8 protein_coding This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor, and plays a role in regulating the migration of tumor cells. The encoded protein is thought to function as a a negative regulator of epidermal growth factor-induced signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]. 152189 GO:0016021, GO:0005737, GO:0005654, GO:0005615, integral component of membrane, cytoplasm, nucleoplasm, extracellular space, GO:0019911, GO:0005515, GO:0005125, structural constituent of myelin sheath, protein binding, cytokine activity, GO:0042552, GO:0007165, GO:0006935, myelination, signal transduction, chemotaxis, 1 11 14 5 8 7 9 8 9 ENSG00000170296 chr17 7240014 7242770 - GABARAP protein_coding Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]. 11337 GO:0097225, GO:0048471, GO:0045202, GO:0044297, GO:0031410, GO:0015629, GO:0005930, GO:0005886, GO:0005875, GO:0005874, GO:0005829, GO:0005829, GO:0005790, GO:0005776, GO:0005776, GO:0005764, GO:0000421, GO:0000421, GO:0000421, GO:0000139, sperm midpiece, perinuclear region of cytoplasm, synapse, cell body, cytoplasmic vesicle, actin cytoskeleton, axoneme, plasma membrane, microtubule associated complex, microtubule, cytosol, cytosol, smooth endoplasmic reticulum, autophagosome, autophagosome, lysosome, autophagosome membrane, autophagosome membrane, autophagosome membrane, Golgi membrane, GO:0050811, GO:0050811, GO:0048487, GO:0031625, GO:0031625, GO:0008017, GO:0005515, GABA receptor binding, GABA receptor binding, beta-tubulin binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, microtubule binding, protein binding, GO:0097352, GO:0016236, GO:0016236, GO:0008625, GO:0007268, GO:0006995, GO:0006605, GO:0000422, GO:0000226, GO:0000045, autophagosome maturation, macroautophagy, macroautophagy, extrinsic apoptotic signaling pathway via death domain receptors, chemical synaptic transmission, cellular response to nitrogen starvation, protein targeting, autophagy of mitochondrion, microtubule cytoskeleton organization, autophagosome assembly, 145 97 122 953 1029 934 707 601 662 ENSG00000170298 chr17 20449395 20467539 - LGALS9B protein_coding This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008]. 284194 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0030246, GO:0016936, GO:0005515, carbohydrate binding, galactoside binding, protein binding, GO:2000562, GO:0032689, GO:0010628, negative regulation of CD4-positive, alpha-beta T cell proliferation, negative regulation of interferon-gamma production, positive regulation of gene expression, 1 5 8 5 6 8 8 5 1 ENSG00000170310 chr17 9250471 9576591 - STX8 protein_coding The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 9482 GO:0055037, GO:0048471, GO:0045335, GO:0031982, GO:0031201, GO:0016021, GO:0012505, GO:0005887, GO:0005829, GO:0005802, GO:0005783, GO:0005770, GO:0005769, GO:0005768, recycling endosome, perinuclear region of cytoplasm, phagocytic vesicle, vesicle, SNARE complex, integral component of membrane, endomembrane system, integral component of plasma membrane, cytosol, trans-Golgi network, endoplasmic reticulum, late endosome, early endosome, endosome, GO:0031625, GO:0019905, GO:0019869, GO:0005515, GO:0005484, GO:0000149, ubiquitin protein ligase binding, syntaxin binding, chloride channel inhibitor activity, protein binding, SNAP receptor activity, SNARE binding, GO:1903076, GO:0071346, GO:0048278, GO:0045022, GO:0006906, GO:0006886, regulation of protein localization to plasma membrane, cellular response to interferon-gamma, vesicle docking, early endosome to late endosome transport, vesicle fusion, intracellular protein transport, 32 30 52 37 22 57 47 53 33 ENSG00000170312 chr10 60778331 60794852 + CDK1 protein_coding The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 983 GO:0097125, GO:0072686, GO:0070062, GO:0030496, GO:0016020, GO:0005876, GO:0005829, GO:0005829, GO:0005813, GO:0005789, GO:0005759, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, GO:0000307, cyclin B1-CDK1 complex, mitotic spindle, extracellular exosome, midbody, membrane, spindle microtubule, cytosol, cytosol, centrosome, endoplasmic reticulum membrane, mitochondrial matrix, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, cyclin-dependent protein kinase holoenzyme complex, GO:0097472, GO:0035173, GO:0030544, GO:0030332, GO:0030332, GO:0008353, GO:0008353, GO:0005524, GO:0005515, GO:0004693, GO:0004693, GO:0004693, GO:0004693, GO:0004674, GO:0004674, GO:0004672, GO:0003682, GO:0001618, cyclin-dependent protein kinase activity, histone kinase activity, Hsp70 protein binding, cyclin binding, cyclin binding, RNA polymerase II CTD heptapeptide repeat kinase activity, RNA polymerase II CTD heptapeptide repeat kinase activity, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, chromatin binding, virus receptor activity, GO:1905448, GO:1901990, GO:1900182, GO:0097711, GO:0090166, GO:0070301, GO:0065003, GO:0060045, GO:0055015, GO:0051301, GO:0048678, GO:0048511, GO:0046718, GO:0046688, GO:0046686, GO:0045995, GO:0045740, GO:0045471, GO:0043066, GO:0042752, GO:0042493, GO:0042307, GO:0034501, GO:0031145, GO:0031100, GO:0030855, GO:0030261, GO:0018107, GO:0018107, GO:0018105, GO:0016579, GO:0016572, GO:0016477, GO:0014823, GO:0014075, GO:0014070, GO:0014038, GO:0010971, GO:0010628, GO:0010389, GO:0009636, GO:0008283, GO:0007569, GO:0007344, GO:0007098, GO:0007095, GO:0007077, GO:0006977, GO:0006915, GO:0006468, GO:0006468, GO:0006468, GO:0006367, GO:0006281, GO:0006260, GO:0000226, GO:0000187, GO:0000086, GO:0000086, positive regulation of mitochondrial ATP synthesis coupled electron transport, regulation of mitotic cell cycle phase transition, positive regulation of protein localization to nucleus, ciliary basal body-plasma membrane docking, Golgi disassembly, cellular response to hydrogen peroxide, protein-containing complex assembly, positive regulation of cardiac muscle cell proliferation, ventricular cardiac muscle cell development, cell division, response to axon injury, rhythmic process, viral entry into host cell, response to copper ion, response to cadmium ion, regulation of embryonic development, positive regulation of DNA replication, response to ethanol, negative regulation of apoptotic process, regulation of circadian rhythm, response to drug, positive regulation of protein import into nucleus, protein localization to kinetochore, anaphase-promoting complex-dependent catabolic process, animal organ regeneration, epithelial cell differentiation, chromosome condensation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, protein deubiquitination, histone phosphorylation, cell migration, response to activity, response to amine, response to organic cyclic compound, regulation of Schwann cell differentiation, positive regulation of G2/M transition of mitotic cell cycle, positive regulation of gene expression, regulation of G2/M transition of mitotic cell cycle, response to toxic substance, cell population proliferation, cell aging, pronuclear fusion, centrosome cycle, mitotic G2 DNA damage checkpoint, mitotic nuclear envelope disassembly, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, apoptotic process, protein phosphorylation, protein phosphorylation, protein phosphorylation, transcription initiation from RNA polymerase II promoter, DNA repair, DNA replication, microtubule cytoskeleton organization, activation of MAPK activity, G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 3 3 4 4 0 8 3 7 0 ENSG00000170315 chr17 16380798 16382745 + UBB protein_coding This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 7314 GO:0070062, GO:0043657, GO:0043025, GO:0043005, GO:0031982, GO:0030666, GO:0010008, GO:0005886, GO:0005829, GO:0005789, GO:0005741, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005615, extracellular exosome, host cell, neuronal cell body, neuron projection, vesicle, endocytic vesicle membrane, endosome membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular space, GO:0031625, GO:0031386, GO:0005515, ubiquitin protein ligase binding, protein tag, protein binding, GO:1902527, GO:1902255, GO:1901214, GO:0097009, GO:0075733, GO:0072520, GO:0070987, GO:0070911, GO:0070498, GO:0070423, GO:0061418, GO:0061136, GO:0061024, GO:0060613, GO:0055085, GO:0051881, GO:0051403, GO:0051092, GO:0048812, GO:0047497, GO:0045944, GO:0044267, GO:0043488, GO:0043066, GO:0043065, GO:0042769, GO:0042276, GO:0036297, GO:0035666, GO:0033683, GO:0031398, GO:0031145, GO:0030512, GO:0021888, GO:0019985, GO:0019941, GO:0019221, GO:0019068, GO:0019058, GO:0016579, GO:0016567, GO:0016567, GO:0016197, GO:0016055, GO:0008585, GO:0007254, GO:0007249, GO:0007179, GO:0007144, GO:0007141, GO:0006625, GO:0006297, GO:0006296, GO:0006294, GO:0006283, GO:0002756, GO:0002755, GO:0000717, GO:0000715, GO:0000209, GO:0000187, GO:0000122, positive regulation of protein monoubiquitination, positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator, regulation of neuron death, energy homeostasis, intracellular transport of virus, seminiferous tubule development, error-free translesion synthesis, global genome nucleotide-excision repair, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of proteasomal protein catabolic process, membrane organization, fat pad development, transmembrane transport, regulation of mitochondrial membrane potential, stress-activated MAPK cascade, positive regulation of NF-kappaB transcription factor activity, neuron projection morphogenesis, mitochondrion transport along microtubule, positive regulation of transcription by RNA polymerase II, cellular protein metabolic process, regulation of mRNA stability, negative regulation of apoptotic process, positive regulation of apoptotic process, DNA damage response, detection of DNA damage, error-prone translesion synthesis, interstrand cross-link repair, TRIF-dependent toll-like receptor signaling pathway, nucleotide-excision repair, DNA incision, positive regulation of protein ubiquitination, anaphase-promoting complex-dependent catabolic process, negative regulation of transforming growth factor beta receptor signaling pathway, hypothalamus gonadotrophin-releasing hormone neuron development, translesion synthesis, modification-dependent protein catabolic process, cytokine-mediated signaling pathway, virion assembly, viral life cycle, protein deubiquitination, protein ubiquitination, protein ubiquitination, endosomal transport, Wnt signaling pathway, female gonad development, JNK cascade, I-kappaB kinase/NF-kappaB signaling, transforming growth factor beta receptor signaling pathway, female meiosis I, male meiosis I, protein targeting to peroxisome, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, preincision complex assembly, transcription-coupled nucleotide-excision repair, MyD88-independent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, protein polyubiquitination, activation of MAPK activity, negative regulation of transcription by RNA polymerase II, 1568 1792 2532 7201 14357 8160 3831 5792 5818 ENSG00000170322 chr11 129863636 129895590 - NFRKB protein_coding 4798 GO:0031011, GO:0031011, GO:0031011, GO:0005654, GO:0005654, GO:0005634, Ino80 complex, Ino80 complex, Ino80 complex, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003677, GO:0002020, GO:0002020, protein binding, DNA binding, protease binding, protease binding, GO:0016579, GO:0006310, GO:0006281, protein deubiquitination, DNA recombination, DNA repair, 284 348 386 187 311 252 260 250 169 ENSG00000170323 chr8 81478419 81483263 - FABP4 protein_coding FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]. 2167 GO:0070062, GO:0005829, GO:0005811, GO:0005737, GO:0005737, GO:0005634, extracellular exosome, cytosol, lipid droplet, cytoplasm, cytoplasm, nucleus, GO:0051427, GO:0036041, GO:0005504, GO:0005324, hormone receptor binding, long-chain fatty acid binding, fatty acid binding, long-chain fatty acid transporter activity, GO:0120162, GO:0071356, GO:0071285, GO:0050873, GO:0050872, GO:0050729, GO:0045892, GO:0042632, GO:0019433, GO:0015909, GO:0009617, GO:0006469, GO:0001816, positive regulation of cold-induced thermogenesis, cellular response to tumor necrosis factor, cellular response to lithium ion, brown fat cell differentiation, white fat cell differentiation, positive regulation of inflammatory response, negative regulation of transcription, DNA-templated, cholesterol homeostasis, triglyceride catabolic process, long-chain fatty acid transport, response to bacterium, negative regulation of protein kinase activity, cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000170324 chr10 48153088 48274870 - FRMPD2 protein_coding This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]. 143162 GO:0016323, GO:0005923, GO:0005856, GO:0005737, basolateral plasma membrane, bicellular tight junction, cytoskeleton, cytoplasm, GO:0005545, GO:0005515, 1-phosphatidylinositol binding, protein binding, GO:0070830, bicellular tight junction assembly, 0 0 0 0 0 0 0 0 0 ENSG00000170325 chr11 129899706 130002835 - PRDM10 protein_coding The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 56980 GO:0017053, GO:0005634, GO:0000785, transcription repressor complex, nucleus, chromatin, GO:0046872, GO:0008168, GO:0005515, GO:0003677, metal ion binding, methyltransferase activity, protein binding, DNA binding, GO:0045944, GO:0045944, GO:0032259, GO:0010468, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, methylation, regulation of gene expression, 246 282 338 177 328 290 199 199 233 ENSG00000170340 chr2 62196113 62224731 + B3GNT2 protein_coding This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]. 10678 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0008532, GO:0008532, GO:0008457, GO:0008376, GO:0008375, GO:0005515, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0030311, GO:0030311, GO:0018146, GO:0016266, GO:0006486, poly-N-acetyllactosamine biosynthetic process, poly-N-acetyllactosamine biosynthetic process, keratan sulfate biosynthetic process, O-glycan processing, protein glycosylation, 308 224 370 185 226 263 256 215 221 ENSG00000170345 chr14 75278774 75282230 + FOS protein_coding The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq, Jul 2008]. 2353 GO:0043005, GO:0035976, GO:0035976, GO:0032993, GO:0016020, GO:0005829, GO:0005783, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, neuron projection, transcription factor AP-1 complex, transcription factor AP-1 complex, protein-DNA complex, membrane, cytosol, endoplasmic reticulum, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0070412, GO:0044877, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0003682, GO:0001228, GO:0001102, GO:0000981, GO:0000981, GO:0000979, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, R-SMAD binding, protein-containing complex binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1902895, GO:1901216, GO:0071277, GO:0071276, GO:0060395, GO:0051591, GO:0051412, GO:0051090, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045672, GO:0042493, GO:0038095, GO:0035994, GO:0035914, GO:0035902, GO:0034614, GO:0034614, GO:0032870, GO:0032570, GO:0032496, GO:0031668, GO:0030431, GO:0019221, GO:0009636, GO:0009629, GO:0009416, GO:0009409, GO:0007568, GO:0007565, GO:0007399, GO:0007179, GO:0006954, GO:0006366, GO:0006357, GO:0006306, GO:0001661, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of neuron death, cellular response to calcium ion, cellular response to cadmium ion, SMAD protein signal transduction, response to cAMP, response to corticosterone, regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of osteoclast differentiation, response to drug, Fc-epsilon receptor signaling pathway, response to muscle stretch, skeletal muscle cell differentiation, response to immobilization stress, cellular response to reactive oxygen species, cellular response to reactive oxygen species, cellular response to hormone stimulus, response to progesterone, response to lipopolysaccharide, cellular response to extracellular stimulus, sleep, cytokine-mediated signaling pathway, response to toxic substance, response to gravity, response to light stimulus, response to cold, aging, female pregnancy, nervous system development, transforming growth factor beta receptor signaling pathway, inflammatory response, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, DNA methylation, conditioned taste aversion, 4484 7586 7459 74863 209261 138605 75263 170676 118507 ENSG00000170348 chr14 75131470 75176631 - TMED10 protein_coding This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008]. 10972 GO:0070765, GO:0042589, GO:0042470, GO:0033116, GO:0030667, GO:0030140, GO:0030137, GO:0030137, GO:0030134, GO:0030133, GO:0016021, GO:0012507, GO:0005886, GO:0005801, GO:0005794, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005783, GO:0005783, GO:0000139, gamma-secretase complex, zymogen granule membrane, melanosome, endoplasmic reticulum-Golgi intermediate compartment membrane, secretory granule membrane, trans-Golgi network transport vesicle, COPI-coated vesicle, COPI-coated vesicle, COPII-coated ER to Golgi transport vesicle, transport vesicle, integral component of membrane, ER to Golgi transport vesicle membrane, plasma membrane, cis-Golgi network, Golgi apparatus, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0044877, GO:0019905, GO:0008320, GO:0005515, protein-containing complex binding, syntaxin binding, protein transmembrane transporter activity, protein binding, GO:1902003, GO:0106273, GO:0106272, GO:0071806, GO:0050714, GO:0048208, GO:0048205, GO:0048199, GO:0045055, GO:0043279, GO:0035964, GO:0035459, GO:0032612, GO:0007030, GO:0006890, GO:0006890, GO:0006888, GO:0006888, GO:0006886, GO:0006886, GO:0001822, regulation of amyloid-beta formation, cytosol to ERGIC protein transport, protein localization to ERGIC, protein transmembrane transport, positive regulation of protein secretion, COPII vesicle coating, COPI coating of Golgi vesicle, vesicle targeting, to, from or within Golgi, regulated exocytosis, response to alkaloid, COPI-coated vesicle budding, vesicle cargo loading, interleukin-1 production, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, intracellular protein transport, kidney development, 567 606 692 359 375 546 351 386 382 ENSG00000170356 chr7 144250045 144256244 - OR2A20P transcribed_unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401428 1 0 0 5 1 0 4 1 0 ENSG00000170364 chr3 4303304 4317567 + SETMAR protein_coding This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 6419 GO:0035861, GO:0035861, GO:0005730, GO:0005634, GO:0005634, GO:0000793, site of double-strand break, site of double-strand break, nucleolus, nucleus, nucleus, condensed chromosome, GO:0046975, GO:0044547, GO:0042803, GO:0042800, GO:0008270, GO:0005515, GO:0004519, GO:0004519, GO:0003697, GO:0003690, GO:0003677, GO:0003677, GO:0000014, histone methyltransferase activity (H3-K36 specific), DNA topoisomerase binding, protein homodimerization activity, histone methyltransferase activity (H3-K4 specific), zinc ion binding, protein binding, endonuclease activity, endonuclease activity, single-stranded DNA binding, double-stranded DNA binding, DNA binding, DNA binding, single-stranded DNA endodeoxyribonuclease activity, GO:2001251, GO:2001034, GO:2000373, GO:2000373, GO:0097676, GO:0090305, GO:0071157, GO:0051568, GO:0044774, GO:0031297, GO:0015074, GO:0010452, GO:0010452, GO:0008283, GO:0006303, GO:0006303, GO:0000737, GO:0000737, GO:0000729, negative regulation of chromosome organization, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity, positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity, histone H3-K36 dimethylation, nucleic acid phosphodiester bond hydrolysis, negative regulation of cell cycle arrest, histone H3-K4 methylation, mitotic DNA integrity checkpoint, replication fork processing, DNA integration, histone H3-K36 methylation, histone H3-K36 methylation, cell population proliferation, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, DNA catabolic process, endonucleolytic, DNA catabolic process, endonucleolytic, DNA double-strand break processing, 13 8 19 28 20 19 8 11 17 ENSG00000170365 chr4 145481194 145558079 + SMAD1 protein_coding The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]. 4086 GO:0071144, GO:0071141, GO:0032991, GO:0016021, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005637, GO:0005634, GO:0005634, GO:0005634, GO:0005634, GO:0000785, GO:0000785, heteromeric SMAD protein complex, SMAD protein complex, protein-containing complex, integral component of membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nuclear inner membrane, nucleus, nucleus, nucleus, nucleus, chromatin, chromatin, GO:0070878, GO:0070411, GO:0070411, GO:0070410, GO:0046872, GO:0042802, GO:0019901, GO:0017151, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, primary miRNA binding, I-SMAD binding, I-SMAD binding, co-SMAD binding, metal ion binding, identical protein binding, protein kinase binding, DEAD/H-box RNA helicase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903672, GO:1902895, GO:1901522, GO:0071407, GO:0061036, GO:0060395, GO:0060395, GO:0060395, GO:0060348, GO:0060038, GO:0051216, GO:0045944, GO:0045944, GO:0045669, GO:0042592, GO:0031053, GO:0030902, GO:0030901, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030154, GO:0016579, GO:0010628, GO:0009880, GO:0009653, GO:0008285, GO:0007276, GO:0007183, GO:0007179, GO:0007179, GO:0007165, GO:0006954, GO:0006357, GO:0002051, GO:0001710, GO:0001657, GO:0000165, positive regulation of sprouting angiogenesis, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, cellular response to organic cyclic compound, positive regulation of cartilage development, SMAD protein signal transduction, SMAD protein signal transduction, SMAD protein signal transduction, bone development, cardiac muscle cell proliferation, cartilage development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of osteoblast differentiation, homeostatic process, primary miRNA processing, hindbrain development, midbrain development, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, cell differentiation, protein deubiquitination, positive regulation of gene expression, embryonic pattern specification, anatomical structure morphogenesis, negative regulation of cell population proliferation, gamete generation, SMAD protein complex assembly, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, signal transduction, inflammatory response, regulation of transcription by RNA polymerase II, osteoblast fate commitment, mesodermal cell fate commitment, ureteric bud development, MAPK cascade, 1 1 3 0 0 0 5 0 0 ENSG00000170367 chr20 23875935 23879750 - CST5 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008]. 1473 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0005515, GO:0004869, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000170369 chr20 23823769 23826731 - CST2 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. [provided by RefSeq, Jul 2008]. 1470 GO:0005615, GO:0005615, GO:0005615, extracellular space, extracellular space, extracellular space, GO:0005515, GO:0004869, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0010951, GO:0001580, negative regulation of endopeptidase activity, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000170370 chr10 117542444 117549546 + EMX2 protein_coding This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]. 2018 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072197, GO:0042493, GO:0030182, GO:0021885, GO:0021846, GO:0021796, GO:0021542, GO:0009952, GO:0007420, GO:0007417, GO:0006357, GO:0000122, ureter morphogenesis, response to drug, neuron differentiation, forebrain cell migration, cell proliferation in forebrain, cerebral cortex regionalization, dentate gyrus development, anterior/posterior pattern specification, brain development, central nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000170373 chr20 23747553 23751268 - CST1 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008]. 1469 GO:0005615, GO:0005615, GO:0005615, extracellular space, extracellular space, extracellular space, GO:0005515, GO:0004869, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0010951, GO:0001580, negative regulation of endopeptidase activity, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000170374 chr12 53326575 53345315 - SP7 protein_coding This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]. 121340 GO:0005737, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleus, chromatin, chromatin, GO:0046872, GO:0017151, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, metal ion binding, DEAD/H-box RNA helicase binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000738, GO:0060218, GO:0045944, GO:0006357, GO:0006357, GO:0001649, GO:0001649, positive regulation of stem cell differentiation, hematopoietic stem cell differentiation, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, osteoblast differentiation, osteoblast differentiation, 0 0 0 0 0 0 0 0 3 ENSG00000170379 chr7 143620952 143730409 + TCAF2 protein_coding 285966 GO:0030054, GO:0005886, GO:0005886, cell junction, plasma membrane, plasma membrane, GO:0044325, GO:0044325, GO:0044325, ion channel binding, ion channel binding, ion channel binding, GO:0090314, GO:0090314, GO:0030335, GO:0010360, GO:0010360, GO:0010359, positive regulation of protein targeting to membrane, positive regulation of protein targeting to membrane, positive regulation of cell migration, negative regulation of anion channel activity, negative regulation of anion channel activity, regulation of anion channel activity, 26 10 80 18 10 44 27 14 12 ENSG00000170381 chr7 83363238 83649113 - SEMA3E protein_coding Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]. 9723 GO:0005887, GO:0005615, GO:0005576, integral component of plasma membrane, extracellular space, extracellular region, GO:0045499, GO:0030215, GO:0005515, chemorepellent activity, semaphorin receptor binding, protein binding, GO:2000249, GO:0071526, GO:0071526, GO:0050919, GO:0050808, GO:0048843, GO:0030335, GO:0016525, GO:0008360, GO:0007411, GO:0002040, GO:0001953, GO:0001755, GO:0001569, regulation of actin cytoskeleton reorganization, semaphorin-plexin signaling pathway, semaphorin-plexin signaling pathway, negative chemotaxis, synapse organization, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, negative regulation of angiogenesis, regulation of cell shape, axon guidance, sprouting angiogenesis, negative regulation of cell-matrix adhesion, neural crest cell migration, branching involved in blood vessel morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000170382 chr1 204617170 204685733 - LRRN2 protein_coding The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. 10446 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, GO:0038023, signaling receptor activity, GO:0007165, GO:0007155, signal transduction, cell adhesion, 152 184 216 168 239 235 248 186 221 ENSG00000170385 chr1 211571568 211578742 - SLC30A1 protein_coding 7779 GO:0031965, GO:0030315, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005794, GO:0005794, GO:0005783, GO:0005783, GO:0005737, nuclear membrane, T-tubule, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0019855, GO:0019855, GO:0005515, GO:0005385, GO:0005385, calcium channel inhibitor activity, calcium channel inhibitor activity, protein binding, zinc ion transmembrane transporter activity, zinc ion transmembrane transporter activity, GO:0090281, GO:0071585, GO:0071584, GO:0071577, GO:0070574, GO:0070509, GO:0046929, GO:0006882, GO:0006882, GO:0006874, GO:0006829, GO:0001701, negative regulation of calcium ion import, detoxification of cadmium ion, negative regulation of zinc ion transmembrane import, zinc ion transmembrane transport, cadmium ion transmembrane transport, calcium ion import, negative regulation of neurotransmitter secretion, cellular zinc ion homeostasis, cellular zinc ion homeostasis, cellular calcium ion homeostasis, zinc ion transport, in utero embryonic development, 115 111 129 65 93 126 42 51 77 ENSG00000170390 chr4 150078274 150257457 + DCLK2 protein_coding This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010]. 166614 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0106311, GO:0106310, GO:0005524, protein threonine kinase activity, protein serine kinase activity, ATP binding, GO:1900181, GO:0035556, GO:0021860, GO:0021766, GO:0018105, GO:0000226, negative regulation of protein localization to nucleus, intracellular signal transduction, pyramidal neuron development, hippocampus development, peptidyl-serine phosphorylation, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000170396 chr2 184598366 184939492 + ZNF804A protein_coding The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]. 91752 GO:1901588, GO:0098794, GO:0098793, GO:0043198, GO:0043197, GO:0043025, GO:0030426, GO:0005886, GO:0005737, GO:0005634, GO:0005634, dendritic microtubule, postsynapse, presynapse, dendritic shaft, dendritic spine, neuronal cell body, growth cone, plasma membrane, cytoplasm, nucleus, nucleus, GO:0046872, GO:0003674, metal ion binding, molecular_function, GO:1902952, GO:0010976, GO:0010975, GO:0010628, positive regulation of dendritic spine maintenance, positive regulation of neuron projection development, regulation of neuron projection development, positive regulation of gene expression, 189 121 198 49 82 68 58 68 68 ENSG00000170409 chr7 102327256 102329530 - AC091390.1 unprocessed_pseudogene 0 0 4 2 0 3 4 0 4 ENSG00000170412 chr17 74424851 74451653 + GPRC5C protein_coding The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 55890 GO:0070062, GO:0070062, GO:0043235, GO:0043235, GO:0043231, GO:0031982, GO:0030659, GO:0005887, GO:0005886, extracellular exosome, extracellular exosome, receptor complex, receptor complex, intracellular membrane-bounded organelle, vesicle, cytoplasmic vesicle membrane, integral component of plasma membrane, plasma membrane, GO:0030295, GO:0004930, protein kinase activator activity, G protein-coupled receptor activity, GO:0032147, GO:0007186, activation of protein kinase activity, G protein-coupled receptor signaling pathway, 5 8 9 0 0 9 5 3 3 ENSG00000170417 chr2 102736905 103019900 + TMEM182 protein_coding 130827 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1 0 9 3 2 8 2 3 7 ENSG00000170419 chr7 54542325 54571080 + VSTM2A protein_coding 222008 GO:0016021, GO:0005634, GO:0005576, integral component of membrane, nucleus, extracellular region, GO:0042802, identical protein binding, GO:0090336, GO:0071773, GO:0070352, GO:0030154, GO:0010884, GO:0010628, positive regulation of brown fat cell differentiation, cellular response to BMP stimulus, positive regulation of white fat cell proliferation, cell differentiation, positive regulation of lipid storage, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000170421 chr12 52897187 52949954 - KRT8 protein_coding This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]. 3856 GO:0070062, GO:0045111, GO:0045095, GO:0043034, GO:0042383, GO:0030018, GO:0016363, GO:0016327, GO:0016010, GO:0005911, GO:0005882, GO:0005829, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, intermediate filament cytoskeleton, keratin filament, costamere, sarcolemma, Z disc, nuclear matrix, apicolateral plasma membrane, dystrophin-associated glycoprotein complex, cell-cell junction, intermediate filament, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0097110, GO:0044877, GO:0005515, scaffold protein binding, protein-containing complex binding, protein binding, GO:0097284, GO:0097191, GO:0070268, GO:0060706, GO:0051707, GO:0051599, GO:0045214, GO:0033209, GO:0031424, GO:0016032, hepatocyte apoptotic process, extrinsic apoptotic signaling pathway, cornification, cell differentiation involved in embryonic placenta development, response to other organism, response to hydrostatic pressure, sarcomere organization, tumor necrosis factor-mediated signaling pathway, keratinization, viral process, 6 6 8 5 4 0 9 2 7 ENSG00000170423 chr12 52837804 52849092 - KRT78 protein_coding This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]. 196374 GO:0070062, GO:0045095, GO:0005829, GO:0005615, extracellular exosome, keratin filament, cytosol, extracellular space, GO:0005515, protein binding, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000170425 chr17 15944917 15975746 + ADORA2B protein_coding This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 136 GO:0098978, GO:0005887, GO:0005886, glutamatergic synapse, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0001609, protein binding, G protein-coupled adenosine receptor activity, GO:0060087, GO:0044267, GO:0043306, GO:0032755, GO:0032722, GO:0031668, GO:0031284, GO:0010753, GO:0010575, GO:0007588, GO:0007254, GO:0007190, GO:0007189, GO:0007186, GO:0006968, GO:0002882, GO:0001973, GO:0000187, relaxation of vascular associated smooth muscle, cellular protein metabolic process, positive regulation of mast cell degranulation, positive regulation of interleukin-6 production, positive regulation of chemokine production, cellular response to extracellular stimulus, positive regulation of guanylate cyclase activity, positive regulation of cGMP-mediated signaling, positive regulation of vascular endothelial growth factor production, excretion, JNK cascade, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cellular defense response, positive regulation of chronic inflammatory response to non-antigenic stimulus, G protein-coupled adenosine receptor signaling pathway, activation of MAPK activity, 8 15 10 9 4 2 6 7 9 ENSG00000170426 chr12 56923154 56934405 - SDR9C7 protein_coding This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]. 121214 GO:0005737, cytoplasm, GO:0004745, retinol dehydrogenase activity, GO:0055114, oxidation-reduction process, 0 0 0 0 0 0 0 0 0 ENSG00000170430 chr10 129467184 129768007 + MGMT protein_coding Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]. 4255 GO:0016020, GO:0005654, GO:0005654, GO:0005634, membrane, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0009008, GO:0008168, GO:0003908, GO:0003677, metal ion binding, DNA-methyltransferase activity, methyltransferase activity, methylated-DNA-[protein]-cysteine S-methyltransferase activity, DNA binding, GO:2000781, GO:0043066, GO:0006307, GO:0006306, GO:0006281, GO:0006266, positive regulation of double-strand break repair, negative regulation of apoptotic process, DNA dealkylation involved in DNA repair, DNA methylation, DNA repair, DNA ligation, 8 5 7 22 6 24 24 17 33 ENSG00000170439 chr12 55681546 55684611 + METTL7B protein_coding 196410 GO:0008168, methyltransferase activity, GO:0032259, methylation, 0 0 0 0 0 0 0 0 0 ENSG00000170442 chr12 52249300 52309163 + KRT86 protein_coding This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]. 3892 GO:0045095, GO:0005829, GO:0005615, keratin filament, cytosol, extracellular space, GO:0005515, protein binding, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 1 0 0 0 0 ENSG00000170445 chr5 140673904 140691862 - HARS protein_coding Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 3035 GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, GO:0042803, GO:0042802, GO:0042802, GO:0005524, GO:0004821, GO:0004821, GO:0004821, GO:0004821, protein homodimerization activity, identical protein binding, identical protein binding, ATP binding, histidine-tRNA ligase activity, histidine-tRNA ligase activity, histidine-tRNA ligase activity, histidine-tRNA ligase activity, GO:0032543, GO:0006427, GO:0006427, GO:0006418, GO:0006412, mitochondrial translation, histidyl-tRNA aminoacylation, histidyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, translation, 219 217 299 281 331 349 259 195 271 ENSG00000170448 chr4 47847233 47914667 - NFXL1 protein_coding 152518 GO:0016021, GO:0016020, GO:0005634, GO:0000785, integral component of membrane, membrane, nucleus, chromatin, GO:0008270, GO:0000981, GO:0000977, zinc ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 244 253 168 196 291 158 281 235 138 ENSG00000170454 chr12 52424070 52434525 - KRT75 protein_coding This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]. 9119 GO:0070062, GO:0045095, GO:0005882, GO:0005829, extracellular exosome, keratin filament, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, GO:0002244, cornification, keratinization, hematopoietic progenitor cell differentiation, 0 0 0 2 0 0 0 0 0 ENSG00000170456 chr12 31382223 31591097 - DENND5B protein_coding 160518 GO:0016021, GO:0005829, integral component of membrane, cytosol, GO:0005085, guanyl-nucleotide exchange factor activity, 1 7 5 9 6 5 10 2 4 ENSG00000170458 chr5 140631728 140633701 - CD14 protein_coding The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide, and to viruses. This gene has been identified as a target candidate in the treatment of SARS-CoV-2-infected patients to potentially lessen or inhibit a severe inflammatory response. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2020]. 929 GO:0070062, GO:0046696, GO:0046696, GO:0045121, GO:0045121, GO:0031362, GO:0030667, GO:0010008, GO:0009897, GO:0005886, GO:0005794, GO:0005615, GO:0005576, extracellular exosome, lipopolysaccharide receptor complex, lipopolysaccharide receptor complex, membrane raft, membrane raft, anchored component of external side of plasma membrane, secretory granule membrane, endosome membrane, external side of plasma membrane, plasma membrane, Golgi apparatus, extracellular space, extracellular region, GO:0071723, GO:0070891, GO:0016019, GO:0005515, GO:0001847, GO:0001530, GO:0001530, lipopeptide binding, lipoteichoic acid binding, peptidoglycan immune receptor activity, protein binding, opsonin receptor activity, lipopolysaccharide binding, lipopolysaccharide binding, GO:1901224, GO:1901224, GO:0097190, GO:0071727, GO:0071726, GO:0071223, GO:0071222, GO:0071222, GO:0071219, GO:0070266, GO:0051602, GO:0045807, GO:0045471, GO:0045087, GO:0043312, GO:0038124, GO:0038123, GO:0035666, GO:0034612, GO:0034142, GO:0034142, GO:0034142, GO:0034128, GO:0032760, GO:0032760, GO:0032757, GO:0032729, GO:0032729, GO:0032481, GO:0032026, GO:0031663, GO:0009408, GO:0007249, GO:0007166, GO:0006954, GO:0006915, GO:0006909, GO:0006898, GO:0002756, GO:0002755, GO:0002224, GO:0001819, positive regulation of NIK/NF-kappaB signaling, positive regulation of NIK/NF-kappaB signaling, apoptotic signaling pathway, cellular response to triacyl bacterial lipopeptide, cellular response to diacyl bacterial lipopeptide, cellular response to lipoteichoic acid, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, cellular response to molecule of bacterial origin, necroptotic process, response to electrical stimulus, positive regulation of endocytosis, response to ethanol, innate immune response, neutrophil degranulation, toll-like receptor TLR6:TLR2 signaling pathway, toll-like receptor TLR1:TLR2 signaling pathway, TRIF-dependent toll-like receptor signaling pathway, response to tumor necrosis factor, toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, negative regulation of MyD88-independent toll-like receptor signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interferon-gamma production, positive regulation of interferon-gamma production, positive regulation of type I interferon production, response to magnesium ion, lipopolysaccharide-mediated signaling pathway, response to heat, I-kappaB kinase/NF-kappaB signaling, cell surface receptor signaling pathway, inflammatory response, apoptotic process, phagocytosis, receptor-mediated endocytosis, MyD88-independent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, positive regulation of cytokine production, 5293 4522 9066 541 1470 872 1016 1496 1052 ENSG00000170464 chr5 139408588 139444491 - DNAJC18 protein_coding 202052 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0030544, Hsp70 protein binding, GO:0071218, GO:0051085, GO:0030433, cellular response to misfolded protein, chaperone cofactor-dependent protein refolding, ubiquitin-dependent ERAD pathway, 19 21 26 17 22 12 20 11 18 ENSG00000170465 chr12 52468516 52473785 - KRT6C protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]. 286887 GO:0070062, GO:0045095, GO:0005882, GO:0005829, extracellular exosome, keratin filament, intermediate filament, cytosol, GO:0005515, protein binding, GO:0070268, GO:0045104, GO:0031424, cornification, intermediate filament cytoskeleton organization, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000170468 chr14 73490964 73493392 + RIOX1 protein_coding 79697 GO:0005730, GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0051864, GO:0051864, GO:0032453, GO:0032453, GO:0016706, GO:0016706, GO:0005515, GO:0005506, histone demethylase activity (H3-K36 specific), histone demethylase activity (H3-K36 specific), histone demethylase activity (H3-K4 specific), histone demethylase activity (H3-K4 specific), 2-oxoglutarate-dependent dioxygenase activity, 2-oxoglutarate-dependent dioxygenase activity, protein binding, iron ion binding, GO:0070544, GO:0070544, GO:0055114, GO:0045892, GO:0045668, GO:0034720, GO:0034720, histone H3-K36 demethylation, histone H3-K36 demethylation, oxidation-reduction process, negative regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, histone H3-K4 demethylation, histone H3-K4 demethylation, 14 14 67 40 1 41 39 23 30 ENSG00000170469 chr5 139396563 139404088 - SPATA24 protein_coding 202051 GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0042802, GO:0005515, GO:0003677, identical protein binding, protein binding, DNA binding, GO:0030154, GO:0007283, GO:0007275, cell differentiation, spermatogenesis, multicellular organism development, 6 7 4 5 12 7 6 4 7 ENSG00000170471 chr20 38472816 38578861 + RALGAPB protein_coding 57148 GO:0046982, GO:0046982, GO:0005515, GO:0005096, GO:0005096, protein heterodimerization activity, protein heterodimerization activity, protein binding, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0090630, GO:0051056, activation of GTPase activity, activation of GTPase activity, regulation of small GTPase mediated signal transduction, 1309 1400 1479 982 1328 1205 1096 979 963 ENSG00000170473 chr12 55901413 55932618 - PYM1 protein_coding 84305 GO:0035145, GO:0035145, GO:0030054, GO:0005829, GO:0005737, GO:0005730, GO:0005654, exon-exon junction complex, exon-exon junction complex, cell junction, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:0043022, GO:0005515, GO:0003723, GO:0003723, ribosome binding, protein binding, RNA binding, RNA binding, GO:1903259, GO:1903259, GO:0045727, GO:0000184, exon-exon junction complex disassembly, exon-exon junction complex disassembly, positive regulation of translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 42 44 50 56 49 62 42 45 30 ENSG00000170476 chr5 139387480 139390081 - MZB1 protein_coding 51237 GO:0034663, GO:0034663, GO:0005788, GO:0005576, endoplasmic reticulum chaperone complex, endoplasmic reticulum chaperone complex, endoplasmic reticulum lumen, extracellular region, GO:0005515, protein binding, GO:0046626, GO:0042127, GO:0033622, GO:0030888, GO:0030888, GO:0008284, GO:0006915, GO:0002639, GO:0002639, regulation of insulin receptor signaling pathway, regulation of cell population proliferation, integrin activation, regulation of B cell proliferation, regulation of B cell proliferation, positive regulation of cell population proliferation, apoptotic process, positive regulation of immunoglobulin production, positive regulation of immunoglobulin production, 9 3 5 9 13 7 21 12 2 ENSG00000170477 chr12 52806549 52814551 - KRT4 protein_coding The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. 3851 GO:0045111, GO:0045095, GO:0009986, GO:0005882, GO:0005829, GO:0005634, intermediate filament cytoskeleton, keratin filament, cell surface, intermediate filament, cytosol, nucleus, GO:0005515, protein binding, GO:0070268, GO:0050680, GO:0031424, GO:0030855, GO:0007010, GO:0007010, cornification, negative regulation of epithelial cell proliferation, keratinization, epithelial cell differentiation, cytoskeleton organization, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000170482 chr5 139367196 139384553 - SLC23A1 protein_coding The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 9963 GO:0070062, GO:0043229, GO:0016324, GO:0005887, GO:0005886, GO:0005886, GO:0005737, extracellular exosome, intracellular organelle, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0033300, GO:0015229, GO:0015205, GO:0015081, GO:0008520, GO:0005515, GO:0005215, dehydroascorbic acid transmembrane transporter activity, L-ascorbic acid transmembrane transporter activity, nucleobase transmembrane transporter activity, sodium ion transmembrane transporter activity, L-ascorbate:sodium symporter activity, protein binding, transporter activity, GO:0070904, GO:0070837, GO:0035725, GO:0019852, GO:0015882, GO:0015851, GO:0009636, GO:0007420, GO:0006814, transepithelial L-ascorbic acid transport, dehydroascorbic acid transport, sodium ion transmembrane transport, L-ascorbic acid metabolic process, L-ascorbic acid transmembrane transport, nucleobase transport, response to toxic substance, brain development, sodium ion transport, 20 25 17 37 47 38 23 31 19 ENSG00000170484 chr12 52565782 52573825 - KRT74 protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]. 121391 GO:0070062, GO:0045095, GO:0005829, GO:0005737, extracellular exosome, keratin filament, cytosol, cytoplasm, GO:1990254, GO:0005515, keratin filament binding, protein binding, GO:0070268, GO:0045104, GO:0031424, cornification, intermediate filament cytoskeleton organization, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000170485 chr2 100820152 100996829 + NPAS2 protein_coding The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]. 4862 GO:1990513, GO:0005829, GO:0005829, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, CLOCK-BMAL transcription complex, cytosol, cytosol, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0051879, GO:0046983, GO:0046872, GO:0005515, GO:0003700, GO:0003677, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, Hsp90 protein binding, protein dimerization activity, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001020, GO:2000987, GO:0060548, GO:0051775, GO:0045944, GO:0045893, GO:0045893, GO:0045739, GO:0042493, GO:0032922, GO:0032922, GO:0019216, GO:0007623, GO:0007417, GO:0006974, GO:0006357, regulation of response to DNA damage stimulus, positive regulation of behavioral fear response, negative regulation of cell death, response to redox state, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of DNA repair, response to drug, circadian regulation of gene expression, circadian regulation of gene expression, regulation of lipid metabolic process, circadian rhythm, central nervous system development, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, 0 0 6 6 2 9 2 2 2 ENSG00000170486 chr12 52585589 52601538 - KRT72 protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]. 140807 GO:0070062, GO:0045095, GO:0005829, extracellular exosome, keratin filament, cytosol, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0070268, GO:0031424, GO:0008150, cornification, keratinization, biological_process, 0 13 3 3 11 15 4 4 12 ENSG00000170498 chr1 204190341 204196486 - KISS1 protein_coding This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]. 3814 GO:0043005, GO:0005576, neuron projection, extracellular region, GO:0031773, GO:0005515, kisspeptin receptor binding, protein binding, GO:0007204, GO:0007186, GO:0007186, GO:0007010, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000170500 chr2 100273291 100322733 - LONRF2 protein_coding 164832 GO:0046872, GO:0005515, metal ion binding, protein binding, 4 1 5 1 4 5 9 0 0 ENSG00000170502 chr4 87422582 87459454 + NUDT9 protein_coding The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 53343 GO:0070062, GO:0031965, GO:0030054, GO:0016604, GO:0005759, GO:0005739, GO:0005739, extracellular exosome, nuclear membrane, cell junction, nuclear body, mitochondrial matrix, mitochondrion, mitochondrion, GO:0047631, GO:0043262, GO:0019144, GO:0005515, ADP-ribose diphosphatase activity, adenosine-diphosphatase activity, ADP-sugar diphosphatase activity, protein binding, GO:0046709, GO:0046032, GO:0034656, IDP catabolic process, ADP catabolic process, nucleobase-containing small molecule catabolic process, 9 12 23 45 13 40 17 9 10 ENSG00000170509 chr4 87303789 87322906 - HSD17B13 protein_coding 345275 GO:0005829, GO:0005811, GO:0005811, GO:0005783, cytosol, lipid droplet, lipid droplet, endoplasmic reticulum, GO:0016616, GO:0016229, GO:0005515, GO:0003674, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, steroid dehydrogenase activity, protein binding, molecular_function, GO:0055114, GO:0046889, GO:0034389, oxidation-reduction process, positive regulation of lipid biosynthetic process, lipid droplet organization, 9 15 17 23 22 17 22 15 20 ENSG00000170515 chr12 56104319 56113907 + PA2G4 protein_coding This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008]. 5036 GO:0070062, GO:0035578, GO:0016020, GO:0005737, GO:0005730, GO:0005634, GO:0005576, extracellular exosome, azurophil granule lumen, membrane, cytoplasm, nucleolus, nucleus, extracellular region, GO:0031625, GO:0005515, GO:0003723, GO:0003714, GO:0003676, ubiquitin protein ligase binding, protein binding, RNA binding, transcription corepressor activity, nucleic acid binding, GO:0045892, GO:0045597, GO:0043312, GO:0043066, GO:0006417, GO:0006364, negative regulation of transcription, DNA-templated, positive regulation of cell differentiation, neutrophil degranulation, negative regulation of apoptotic process, regulation of translation, rRNA processing, 56 33 63 129 70 106 112 81 122 ENSG00000170516 chr4 46734827 46909235 - COX7B2 protein_coding 170712 GO:0045277, GO:0016021, GO:0005746, respiratory chain complex IV, integral component of membrane, mitochondrial respirasome, GO:0004129, cytochrome-c oxidase activity, GO:1902600, GO:0022900, GO:0006119, proton transmembrane transport, electron transport chain, oxidative phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000170522 chr4 110045846 110199199 - ELOVL6 protein_coding Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]. 79071 GO:0030176, GO:0009923, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, fatty acid elongase complex, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102756, GO:0102338, GO:0102337, GO:0102336, GO:0009922, GO:0009922, GO:0009922, GO:0005515, very-long-chain 3-ketoacyl-CoA synthase activity, 3-oxo-lignoceronyl-CoA synthase activity, 3-oxo-cerotoyl-CoA synthase activity, 3-oxo-arachidoyl-CoA synthase activity, fatty acid elongase activity, fatty acid elongase activity, fatty acid elongase activity, protein binding, GO:0120162, GO:0045540, GO:0042761, GO:0042759, GO:0035338, GO:0034626, GO:0034625, GO:0030148, GO:0019367, GO:0019367, GO:0019367, GO:0006636, positive regulation of cold-induced thermogenesis, regulation of cholesterol biosynthetic process, very long-chain fatty acid biosynthetic process, long-chain fatty acid biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, sphingolipid biosynthetic process, fatty acid elongation, saturated fatty acid, fatty acid elongation, saturated fatty acid, fatty acid elongation, saturated fatty acid, unsaturated fatty acid biosynthetic process, 8 9 10 17 4 26 14 5 29 ENSG00000170523 chr12 52314301 52321398 - KRT83 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]. 3889 GO:0045095, GO:0005829, GO:0005615, keratin filament, cytosol, extracellular space, GO:0005515, protein binding, GO:0070268, GO:0042633, GO:0031424, GO:0008544, GO:0007568, cornification, hair cycle, keratinization, epidermis development, aging, 0 0 0 0 0 0 0 0 0 ENSG00000170525 chr10 6144934 6254644 + PFKFB3 protein_coding The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]. 5209 GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, nucleoplasm, GO:0005524, GO:0005515, GO:0004331, GO:0003873, GO:0003873, ATP binding, protein binding, fructose-2,6-bisphosphate 2-phosphatase activity, 6-phosphofructo-2-kinase activity, 6-phosphofructo-2-kinase activity, GO:0046835, GO:0045821, GO:0016311, GO:0006003, GO:0006000, carbohydrate phosphorylation, positive regulation of glycolytic process, dephosphorylation, fructose 2,6-bisphosphate metabolic process, fructose metabolic process, 6621 6379 13573 6939 6048 15633 10467 6465 14771 ENSG00000170537 chr16 18983934 19063942 + TMC7 protein_coding 79905 GO:0005887, integral component of plasma membrane, GO:0008381, mechanosensitive ion channel activity, GO:0034220, ion transmembrane transport, 0 0 0 3 3 16 13 3 14 ENSG00000170540 chr16 18791667 18801678 - ARL6IP1 protein_coding This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]. 23204 GO:0030176, GO:0016021, GO:0016020, GO:0005789, GO:0005784, integral component of endoplasmic reticulum membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, Sec61 translocon complex, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1990809, GO:1903371, GO:0071787, GO:0043154, GO:0043066, GO:0006915, GO:0006613, GO:0002038, endoplasmic reticulum tubular network membrane organization, regulation of endoplasmic reticulum tubular network organization, endoplasmic reticulum tubular network formation, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, apoptotic process, cotranslational protein targeting to membrane, positive regulation of L-glutamate import across plasma membrane, 534 622 598 1139 1475 1297 1050 1009 905 ENSG00000170542 chr6 2887266 2903280 - SERPINB9 protein_coding This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]. 5272 GO:0070062, GO:0062023, GO:0016020, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005615, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, membrane, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, nucleus, extracellular space, extracellular space, GO:0043027, GO:0043027, GO:0005515, GO:0004867, GO:0004867, GO:0002020, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, GO:0071391, GO:0043154, GO:0043066, GO:0042270, GO:0033668, GO:0010951, GO:0010951, GO:0010628, GO:0009617, GO:0006955, GO:0006915, GO:0002448, cellular response to estrogen stimulus, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, protection from natural killer cell mediated cytotoxicity, negative regulation by symbiont of host apoptotic process, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, positive regulation of gene expression, response to bacterium, immune response, apoptotic process, mast cell mediated immunity, 353 335 919 303 178 289 355 173 229 ENSG00000170545 chr12 51244558 51270890 - SMAGP protein_coding 57228 GO:0030659, GO:0030054, GO:0016021, GO:0005886, GO:0005654, cytoplasmic vesicle membrane, cell junction, integral component of membrane, plasma membrane, nucleoplasm, GO:0005515, protein binding, 59 59 83 44 59 68 36 82 72 ENSG00000170549 chr5 3596054 3601403 + IRX1 protein_coding This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011]. 79192 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0043565, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072272, GO:0072086, GO:0048468, GO:0030182, GO:0006357, GO:0000122, proximal/distal pattern formation involved in metanephric nephron development, specification of loop of Henle identity, cell development, neuron differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000170558 chr18 27950966 28177446 - CDH2 protein_coding This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015]. 1000 GO:0099060, GO:0099059, GO:0062023, GO:0045177, GO:0044853, GO:0043005, GO:0042383, GO:0030864, GO:0030054, GO:0030027, GO:0030027, GO:0016342, GO:0016342, GO:0016327, GO:0016324, GO:0016323, GO:0014704, GO:0014704, GO:0014069, GO:0009986, GO:0005925, GO:0005916, GO:0005912, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005788, GO:0005737, GO:0005737, integral component of postsynaptic specialization membrane, integral component of presynaptic active zone membrane, collagen-containing extracellular matrix, apical part of cell, plasma membrane raft, neuron projection, sarcolemma, cortical actin cytoskeleton, cell junction, lamellipodium, lamellipodium, catenin complex, catenin complex, apicolateral plasma membrane, apical plasma membrane, basolateral plasma membrane, intercalated disc, intercalated disc, postsynaptic density, cell surface, focal adhesion, fascia adherens, adherens junction, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum lumen, cytoplasm, cytoplasm, GO:0045296, GO:0045295, GO:0045294, GO:0042802, GO:0019903, GO:0019901, GO:0008013, GO:0008013, GO:0005515, GO:0005509, GO:0005509, cadherin binding, gamma-catenin binding, alpha-catenin binding, identical protein binding, protein phosphatase binding, protein kinase binding, beta-catenin binding, beta-catenin binding, protein binding, calcium ion binding, calcium ion binding, GO:2000809, GO:1902897, GO:0098742, GO:0098609, GO:0097150, GO:0097118, GO:0090090, GO:0072659, GO:0070445, GO:0060563, GO:0060019, GO:0051966, GO:0051149, GO:0051146, GO:0050770, GO:0048872, GO:0048854, GO:0048514, GO:0044331, GO:0044267, GO:0043687, GO:0043410, GO:0035995, GO:0034332, GO:0021987, GO:0016477, GO:0016339, GO:0014032, GO:0010001, GO:0007420, GO:0007416, GO:0007157, GO:0007156, GO:0007155, GO:0007043, GO:0003323, positive regulation of synaptic vesicle clustering, regulation of postsynaptic density protein 95 clustering, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, neuronal stem cell population maintenance, neuroligin clustering involved in postsynaptic membrane assembly, negative regulation of canonical Wnt signaling pathway, protein localization to plasma membrane, regulation of oligodendrocyte progenitor proliferation, neuroepithelial cell differentiation, radial glial cell differentiation, regulation of synaptic transmission, glutamatergic, positive regulation of muscle cell differentiation, striated muscle cell differentiation, regulation of axonogenesis, homeostasis of number of cells, brain morphogenesis, blood vessel morphogenesis, cell-cell adhesion mediated by cadherin, cellular protein metabolic process, post-translational protein modification, positive regulation of MAPK cascade, detection of muscle stretch, adherens junction organization, cerebral cortex development, cell migration, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, neural crest cell development, glial cell differentiation, brain development, synapse assembly, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, cell-cell junction assembly, type B pancreatic cell development, 108 32 98 27 19 30 35 19 24 ENSG00000170561 chr5 2745845 2751662 - IRX2 protein_coding IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]. 153572 GO:0005634, GO:0000785, nucleus, chromatin, GO:0043565, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072272, GO:0072086, GO:0048468, GO:0030182, GO:0006357, GO:0000122, proximal/distal pattern formation involved in metanephric nephron development, specification of loop of Henle identity, cell development, neuron differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000170571 chr5 50396192 50443248 - EMB protein_coding This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009]. 133418 GO:0045202, GO:0030424, GO:0005887, GO:0005886, GO:0005886, synapse, axon, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0098632, cell-cell adhesion mediator activity, GO:0070593, GO:0035879, GO:0007411, GO:0007156, dendrite self-avoidance, plasma membrane lactate transport, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, 2004 1157 2339 1142 678 1344 1217 659 1131 ENSG00000170577 chr2 45005161 45009430 - SIX2 protein_coding This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]. 10736 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:1990837, GO:0044877, GO:0008134, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein-containing complex binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902732, GO:0097168, GO:0090189, GO:0072161, GO:0072137, GO:0072038, GO:0072028, GO:0072006, GO:0048701, GO:0048557, GO:0045944, GO:0045596, GO:0042474, GO:0032330, GO:0030278, GO:0016477, GO:0009948, GO:0009653, GO:0008283, GO:0007501, GO:0006606, GO:0006357, GO:0003337, GO:0002062, GO:0001822, GO:0001822, GO:0001822, positive regulation of chondrocyte proliferation, mesenchymal stem cell proliferation, regulation of branching involved in ureteric bud morphogenesis, mesenchymal cell differentiation involved in kidney development, condensed mesenchymal cell proliferation, mesenchymal stem cell maintenance involved in nephron morphogenesis, nephron morphogenesis, nephron development, embryonic cranial skeleton morphogenesis, embryonic digestive tract morphogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of cell differentiation, middle ear morphogenesis, regulation of chondrocyte differentiation, regulation of ossification, cell migration, anterior/posterior axis specification, anatomical structure morphogenesis, cell population proliferation, mesodermal cell fate specification, protein import into nucleus, regulation of transcription by RNA polymerase II, mesenchymal to epithelial transition involved in metanephros morphogenesis, chondrocyte differentiation, kidney development, kidney development, kidney development, 0 0 0 0 0 0 0 0 0 ENSG00000170579 chr18 3496032 4455335 - DLGAP1 protein_coding 9229 GO:0099572, GO:0098978, GO:0014069, GO:0005886, GO:0005575, postsynaptic specialization, glutamatergic synapse, postsynaptic density, plasma membrane, cellular_component, GO:0060090, GO:0044877, GO:0005515, molecular adaptor activity, protein-containing complex binding, protein binding, GO:0098962, GO:0007268, regulation of postsynaptic neurotransmitter receptor activity, chemical synaptic transmission, 0 4 2 1 2 1 0 2 0 ENSG00000170581 chr12 56341597 56360155 - STAT2 protein_coding The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]. 6773 GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0000785, GO:0000785, plasma membrane, cytosol, cytosol, nucleoplasm, chromatin, chromatin, GO:0044389, GO:0042802, GO:0005515, GO:0000981, GO:0000981, GO:0000978, ubiquitin-like protein ligase binding, identical protein binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090140, GO:0060337, GO:0060337, GO:0060337, GO:0051607, GO:0043434, GO:0042127, GO:0019221, GO:0019221, GO:0016032, GO:0007259, GO:0006952, GO:0006357, GO:0006357, GO:0001932, regulation of mitochondrial fission, type I interferon signaling pathway, type I interferon signaling pathway, type I interferon signaling pathway, defense response to virus, response to peptide hormone, regulation of cell population proliferation, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, viral process, receptor signaling pathway via JAK-STAT, defense response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of protein phosphorylation, 856 795 1102 837 1103 1085 802 829 855 ENSG00000170584 chr5 163446526 163460140 - NUDCD2 protein_coding 134492 GO:0072686, GO:0045171, GO:0015630, GO:0005829, GO:0005815, GO:0005737, GO:0000922, GO:0000777, mitotic spindle, intercellular bridge, microtubule cytoskeleton, cytosol, microtubule organizing center, cytoplasm, spindle pole, condensed chromosome kinetochore, GO:0051082, GO:0005515, unfolded protein binding, protein binding, GO:0032502, GO:0006457, developmental process, protein folding, 30 23 45 70 44 69 56 38 28 ENSG00000170604 chr19 45883607 45886170 - IRF2BP1 protein_coding 26145 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0061630, GO:0046872, GO:0008134, GO:0005515, GO:0003714, GO:0003714, ubiquitin protein ligase activity, metal ion binding, transcription factor binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:0006357, GO:0000209, GO:0000122, regulation of transcription by RNA polymerase II, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 73 73 82 55 48 81 28 78 63 ENSG00000170605 chr12 55126406 55132750 + OR9K2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 441639 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170606 chr5 133051962 133106449 + HSPA4 protein_coding 3308 GO:0070062, GO:0070062, GO:0005829, GO:0005829, GO:0005739, GO:0005634, extracellular exosome, extracellular exosome, cytosol, cytosol, mitochondrion, nucleus, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0051131, GO:0045040, GO:0006986, chaperone-mediated protein complex assembly, protein insertion into mitochondrial outer membrane, response to unfolded protein, 694 769 1013 295 385 326 336 387 288 ENSG00000170608 chr19 45863989 45873797 + FOXA3 protein_coding This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008]. 3171 GO:0015629, GO:0005654, GO:0000785, GO:0000785, actin cytoskeleton, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0019904, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein domain specific binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0030154, GO:0009653, GO:0009267, GO:0007283, GO:0007275, GO:0006357, GO:0006325, GO:0001678, positive regulation of transcription by RNA polymerase II, cell differentiation, anatomical structure morphogenesis, cellular response to starvation, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, chromatin organization, cellular glucose homeostasis, 0 0 0 0 0 0 0 1 0 ENSG00000170613 chr5 157161846 157166264 - FAM71B protein_coding 153745 GO:0005634, nucleus, 0 0 1 0 0 0 0 0 0 ENSG00000170615 chr7 103352730 103446177 - SLC26A5 protein_coding This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]. 375611 GO:0016328, GO:0016323, GO:0005887, GO:0005737, lateral plasma membrane, basolateral plasma membrane, integral component of plasma membrane, cytoplasm, GO:0042802, GO:0030507, GO:0019531, GO:0015301, GO:0015116, GO:0015108, GO:0015106, GO:0008271, GO:0008134, identical protein binding, spectrin binding, oxalate transmembrane transporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, transcription factor binding, GO:2000147, GO:1902476, GO:1902358, GO:1902074, GO:0097066, GO:0090102, GO:0045793, GO:0042493, GO:0042391, GO:0035864, GO:0034766, GO:0019532, GO:0015755, GO:0015701, GO:0010996, GO:0009751, GO:0008360, GO:0007605, GO:0002931, positive regulation of cell motility, chloride transmembrane transport, sulfate transmembrane transport, response to salt, response to thyroid hormone, cochlea development, positive regulation of cell size, response to drug, regulation of membrane potential, response to potassium ion, negative regulation of ion transmembrane transport, oxalate transport, fructose transmembrane transport, bicarbonate transport, response to auditory stimulus, response to salicylic acid, regulation of cell shape, sensory perception of sound, response to ischemia, 1 0 0 2 2 0 2 3 0 ENSG00000170619 chr8 144841042 144853736 - COMMD5 protein_coding 28991 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0005515, protein binding, 123 180 193 494 798 759 313 531 553 ENSG00000170624 chr5 155870344 156767788 + SGCD protein_coding The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]. 6444 GO:0042383, GO:0016529, GO:0016021, GO:0016012, GO:0016010, GO:0005886, GO:0005856, sarcolemma, sarcoplasmic reticulum, integral component of membrane, sarcoglycan complex, dystrophin-associated glycoprotein complex, plasma membrane, cytoskeleton, GO:0086003, GO:0060977, GO:0060047, GO:0055074, GO:0048739, GO:0048738, GO:0034629, GO:0019722, GO:0007517, cardiac muscle cell contraction, coronary vasculature morphogenesis, heart contraction, calcium ion homeostasis, cardiac muscle fiber development, cardiac muscle tissue development, cellular protein-containing complex localization, calcium-mediated signaling, muscle organ development, 0 4 2 4 2 0 0 6 1 ENSG00000170627 chr12 54455950 54473602 - GTSF1 protein_coding 121355 GO:0005737, cytoplasm, GO:0046872, metal ion binding, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 2 4 4 2 1 10 3 2 7 ENSG00000170629 chr7 103175133 103280410 - DPY19L2P2 transcribed_unprocessed_pseudogene 349152 GO:0016021, integral component of membrane, GO:0016757, transferase activity, transferring glycosyl groups, GO:0007286, spermatid development, 5 2 28 17 3 22 2 6 9 ENSG00000170631 chr8 144930358 144950888 - ZNF16 protein_coding The protein encoded by this gene contains multiple tandem zinc finger motifs. The encoded protein is involved in the differentiation of erythroid and megakaryocytic cells. This gene is located in a cluster of related genes on chromosome 8 encoding zinc finger proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. 7564 GO:0005730, GO:0005654, GO:0005634, GO:0005634, nucleolus, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901989, GO:0072707, GO:0051781, GO:0051301, GO:0045654, GO:0045648, GO:0043066, GO:0033674, GO:0008284, GO:0007049, GO:0006357, positive regulation of cell cycle phase transition, cellular response to sodium dodecyl sulfate, positive regulation of cell division, cell division, positive regulation of megakaryocyte differentiation, positive regulation of erythrocyte differentiation, negative regulation of apoptotic process, positive regulation of kinase activity, positive regulation of cell population proliferation, cell cycle, regulation of transcription by RNA polymerase II, 6 4 2 19 5 13 4 10 14 ENSG00000170632 chr7 103074881 103099764 + ARMC10 protein_coding This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011]. 83787 GO:0016021, GO:0005789, GO:0005783, GO:0005739, GO:0005739, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, mitochondrion, GO:1902254, GO:0040008, negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator, regulation of growth, 43 43 49 50 48 47 31 22 24 ENSG00000170633 chr12 121400041 121430623 + RNF34 protein_coding The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]. 80196 GO:0016607, GO:0016604, GO:0012505, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, nuclear speck, nuclear body, endomembrane system, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:1901981, GO:0061630, GO:0061630, GO:0061630, GO:0046872, GO:0031625, GO:0005515, GO:0002039, phosphatidylinositol phosphate binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ubiquitin protein ligase binding, protein binding, p53 binding, GO:2001271, GO:2001271, GO:2000374, GO:1902042, GO:1902042, GO:1901797, GO:0070936, GO:0070936, GO:0070417, GO:0043161, GO:0043161, GO:0043161, GO:0035872, GO:0016567, GO:0016567, GO:0006915, GO:0006511, negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis, negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis, regulation of oxygen metabolic process, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of signal transduction by p53 class mediator, protein K48-linked ubiquitination, protein K48-linked ubiquitination, cellular response to cold, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway, protein ubiquitination, protein ubiquitination, apoptotic process, ubiquitin-dependent protein catabolic process, 331 376 372 258 406 368 304 253 254 ENSG00000170634 chr2 53970838 54305300 + ACYP2 protein_coding Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 98 GO:0042802, GO:0005515, GO:0003998, identical protein binding, protein binding, acylphosphatase activity, GO:0006796, phosphate-containing compound metabolic process, 45 42 36 37 46 55 38 34 45 ENSG00000170638 chr22 50185915 50199598 + TRABD protein_coding 80305 743 971 1061 574 1016 778 706 766 719 ENSG00000170653 chr12 53507856 53626410 - ATF7 protein_coding 11016 GO:0034399, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000781, nuclear periphery, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, chromosome, telomeric region, GO:1990837, GO:0051019, GO:0046872, GO:0035497, GO:0019899, GO:0008134, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, mitogen-activated protein kinase binding, metal ion binding, cAMP response element binding, enzyme binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0016032, GO:0006357, GO:0006357, GO:0006355, viral process, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 180 209 229 137 272 288 174 201 175 ENSG00000170667 chr7 102482445 102517781 - RASA4B protein_coding 100271927 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0046872, GO:0005543, GO:0005096, metal ion binding, phospholipid binding, GTPase activator activity, GO:0071277, GO:0046580, GO:0043547, GO:0035556, cellular response to calcium ion, negative regulation of Ras protein signal transduction, positive regulation of GTPase activity, intracellular signal transduction, 1 5 0 0 1 0 1 3 0 ENSG00000170677 chr18 70288901 70330200 + SOCS6 protein_coding The protein encoded by this gene contains a SH2 domain and a CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [provided by RefSeq, Jul 2008]. 9306 GO:0005942, GO:0005829, GO:0005737, GO:0001772, phosphatidylinositol 3-kinase complex, cytosol, cytoplasm, immunological synapse, GO:0046935, GO:0005515, 1-phosphatidylinositol-3-kinase regulator activity, protein binding, GO:0050868, GO:0046854, GO:0043687, GO:0043551, GO:0040008, GO:0035556, GO:0016567, GO:0010498, GO:0009968, GO:0007259, GO:0006952, negative regulation of T cell activation, phosphatidylinositol phosphorylation, post-translational protein modification, regulation of phosphatidylinositol 3-kinase activity, regulation of growth, intracellular signal transduction, protein ubiquitination, proteasomal protein catabolic process, negative regulation of signal transduction, receptor signaling pathway via JAK-STAT, defense response, 0 6 7 4 10 0 2 0 8 ENSG00000170681 chr9 100578079 100587906 + CAVIN4 protein_coding This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]. 347273 GO:0042383, GO:0030018, GO:0005901, GO:0005901, GO:0005886, GO:0005829, GO:0005737, sarcolemma, Z disc, caveola, caveola, plasma membrane, cytosol, cytoplasm, GO:0005515, protein binding, GO:0045944, GO:0035023, GO:0030154, GO:0010468, GO:0010468, GO:0007517, positive regulation of transcription by RNA polymerase II, regulation of Rho protein signal transduction, cell differentiation, regulation of gene expression, regulation of gene expression, muscle organ development, 0 1 0 0 0 0 0 0 0 ENSG00000170683 chr11 7937171 7941708 - OR10A3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26496 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170684 chr19 45071500 45076588 - ZNF296 protein_coding 162979 GO:0005634, GO:0005575, nucleus, cellular_component, GO:1990837, GO:0046872, GO:0008134, GO:0005515, GO:0003700, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0007283, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, spermatogenesis, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 28 28 20 31 45 28 28 31 29 ENSG00000170688 chr11 7848700 7849626 + OR5E1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000170689 chr17 48621159 48626356 - HOXB9 protein_coding This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008]. 3219 GO:0090575, GO:0005739, GO:0005654, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, mitochondrion, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060326, GO:0048704, GO:0030879, GO:0009954, GO:0009952, GO:0006357, GO:0006351, cell chemotaxis, embryonic skeletal system morphogenesis, mammary gland development, proximal/distal pattern formation, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000170703 chr17 48762235 48817214 - TTLL6 protein_coding 284076 GO:0036064, GO:0005929, GO:0005874, GO:0005829, ciliary basal body, cilium, microtubule, cytosol, GO:0070740, GO:0070739, GO:0015631, GO:0015631, GO:0005524, GO:0005515, tubulin-glutamic acid ligase activity, protein-glutamic acid ligase activity, tubulin binding, tubulin binding, ATP binding, protein binding, GO:0051013, GO:0018095, GO:0018095, GO:0018095, GO:0003353, GO:0001578, GO:0000226, microtubule severing, protein polyglutamylation, protein polyglutamylation, protein polyglutamylation, positive regulation of cilium movement, microtubule bundle formation, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000170734 chr6 43576150 43615660 + POLH protein_coding This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. 5429 GO:0035861, GO:0005829, GO:0005657, GO:0005654, GO:0005654, GO:0005634, site of double-strand break, cytosol, replication fork, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003887, GO:0003887, GO:0003684, metal ion binding, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, damaged DNA binding, GO:0071494, GO:0070987, GO:0042276, GO:0019985, GO:0010225, GO:0009314, GO:0006290, GO:0006282, GO:0006281, GO:0006260, GO:0000731, cellular response to UV-C, error-free translesion synthesis, error-prone translesion synthesis, translesion synthesis, response to UV-C, response to radiation, pyrimidine dimer repair, regulation of DNA repair, DNA repair, DNA replication, DNA synthesis involved in DNA repair, 37 46 44 65 77 68 69 58 53 ENSG00000170743 chr11 7238778 7469042 + SYT9 protein_coding 143425 GO:0098686, GO:0070382, GO:0031045, GO:0030667, GO:0030665, GO:0030285, GO:0005886, GO:0005886, hippocampal mossy fiber to CA3 synapse, exocytic vesicle, dense core granule, secretory granule membrane, clathrin-coated vesicle membrane, integral component of synaptic vesicle membrane, plasma membrane, plasma membrane, GO:0042802, GO:0030276, GO:0019905, GO:0005546, GO:0005544, GO:0005515, GO:0005509, GO:0001786, GO:0000149, identical protein binding, clathrin binding, syntaxin binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:0071277, GO:0061024, GO:0050796, GO:0045956, GO:0017158, GO:0017156, GO:0016192, GO:0014059, cellular response to calcium ion, membrane organization, regulation of insulin secretion, positive regulation of calcium ion-dependent exocytosis, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, 0 1 0 0 3 2 0 1 2 ENSG00000170745 chr2 17877847 18361616 + KCNS3 protein_coding Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]. 3790 GO:0016021, GO:0008076, GO:0005886, GO:0005886, GO:0005829, GO:0005794, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, plasma membrane, cytosol, Golgi apparatus, GO:0015459, GO:0005251, GO:0005249, potassium channel regulator activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0051260, GO:0050796, GO:0034765, GO:0006813, potassium ion transmembrane transport, protein homooligomerization, regulation of insulin secretion, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000170748 chr11 7089027 7090900 + RBMXL2 protein_coding This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]. 27288 GO:0005689, U12-type spliceosomal complex, GO:0017069, GO:0003729, snRNA binding, mRNA binding, GO:0000398, mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000170759 chr10 32009010 32056431 - KIF5B protein_coding 3799 GO:1904115, GO:0048471, GO:0045335, GO:0044295, GO:0035253, GO:0034451, GO:0032839, GO:0031982, GO:0016020, GO:0005874, GO:0005871, GO:0005829, axon cytoplasm, perinuclear region of cytoplasm, phagocytic vesicle, axonal growth cone, ciliary rootlet, centriolar satellite, dendrite cytoplasm, vesicle, membrane, microtubule, kinesin complex, cytosol, GO:0099609, GO:0045296, GO:0042802, GO:0016887, GO:0008574, GO:0008432, GO:0008017, GO:0008017, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003777, GO:0003777, microtubule lateral binding, cadherin binding, identical protein binding, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, JUN kinase binding, microtubule binding, microtubule binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, microtubule motor activity, microtubule motor activity, GO:1990049, GO:1990048, GO:1905152, GO:1903078, GO:0099641, GO:0098971, GO:0090316, GO:0072383, GO:0071346, GO:0051642, GO:0048489, GO:0047496, GO:0047496, GO:0043268, GO:0042391, GO:0035774, GO:0035617, GO:0032230, GO:0031340, GO:0030705, GO:0021766, GO:0007411, GO:0007028, GO:0007018, retrograde neuronal dense core vesicle transport, anterograde neuronal dense core vesicle transport, positive regulation of voltage-gated sodium channel activity, positive regulation of protein localization to plasma membrane, anterograde axonal protein transport, anterograde dendritic transport of neurotransmitter receptor complex, positive regulation of intracellular protein transport, plus-end-directed vesicle transport along microtubule, cellular response to interferon-gamma, centrosome localization, synaptic vesicle transport, vesicle transport along microtubule, vesicle transport along microtubule, positive regulation of potassium ion transport, regulation of membrane potential, positive regulation of insulin secretion involved in cellular response to glucose stimulus, stress granule disassembly, positive regulation of synaptic transmission, GABAergic, positive regulation of vesicle fusion, cytoskeleton-dependent intracellular transport, hippocampus development, axon guidance, cytoplasm organization, microtubule-based movement, 1205 1026 1606 774 930 1269 994 882 985 ENSG00000170775 chr7 124745997 124765627 - GPR37 protein_coding This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012]. 2861 GO:0043235, GO:0043235, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005737, GO:0000151, receptor complex, receptor complex, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, ubiquitin ligase complex, GO:0042923, GO:0042277, GO:0036505, GO:0036505, GO:0031625, GO:0031072, GO:0030544, GO:0008528, GO:0008528, GO:0008188, GO:0005515, GO:0004930, neuropeptide binding, peptide binding, prosaposin receptor activity, prosaposin receptor activity, ubiquitin protein ligase binding, heat shock protein binding, Hsp70 protein binding, G protein-coupled peptide receptor activity, G protein-coupled peptide receptor activity, neuropeptide receptor activity, protein binding, G protein-coupled receptor activity, GO:1903206, GO:0045964, GO:0043410, GO:0043410, GO:0042416, GO:0031987, GO:0007218, GO:0007193, GO:0007193, GO:0007186, negative regulation of hydrogen peroxide-induced cell death, positive regulation of dopamine metabolic process, positive regulation of MAPK cascade, positive regulation of MAPK cascade, dopamine biosynthetic process, locomotion involved in locomotory behavior, neuropeptide signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170776 chr15 85380571 85749358 + AKAP13 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]. 11214 GO:0048471, GO:0030864, GO:0016020, GO:0015629, GO:0005938, GO:0005884, GO:0005829, GO:0005829, GO:0005634, perinuclear region of cytoplasm, cortical actin cytoskeleton, membrane, actin cytoskeleton, cell cortex, actin filament, cytosol, cytosol, nucleus, GO:0060090, GO:0051018, GO:0046872, GO:0031267, GO:0005515, GO:0005085, GO:0005085, GO:0005078, GO:0005078, GO:0004691, molecular adaptor activity, protein kinase A binding, metal ion binding, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, MAP-kinase scaffold activity, MAP-kinase scaffold activity, cAMP-dependent protein kinase activity, GO:1900169, GO:0086023, GO:0071875, GO:0071875, GO:0061049, GO:0060348, GO:0060297, GO:0055007, GO:0051168, GO:0051056, GO:0043406, GO:0043123, GO:0043123, GO:0043065, GO:0035025, GO:0035025, GO:0035023, GO:0007507, GO:0007186, GO:0007186, GO:0006468, regulation of glucocorticoid mediated signaling pathway, adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process, adrenergic receptor signaling pathway, adrenergic receptor signaling pathway, cell growth involved in cardiac muscle cell development, bone development, regulation of sarcomere organization, cardiac muscle cell differentiation, nuclear export, regulation of small GTPase mediated signal transduction, positive regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, positive regulation of Rho protein signal transduction, positive regulation of Rho protein signal transduction, regulation of Rho protein signal transduction, heart development, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, protein phosphorylation, 5769 7669 9422 3020 4711 5335 3636 3369 4212 ENSG00000170777 chr9 6328375 6331900 + TPD52L3 protein_coding This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 89882 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000170779 chr14 105009573 105021148 - CDCA4 protein_coding This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]. 55038 GO:0005886, GO:0005829, GO:0005654, GO:0005634, plasma membrane, cytosol, nucleoplasm, nucleus, GO:0140110, GO:0005515, transcription regulator activity, protein binding, GO:0048096, chromatin-mediated maintenance of transcription, 23 10 45 8 8 55 42 10 34 ENSG00000170782 chr11 6876625 6877619 + OR10A4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 283297 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007411, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, axon guidance, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170786 chr8 56300010 56320776 - SDR16C5 protein_coding This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 195814 GO:0017053, GO:0016021, GO:0005886, GO:0005811, GO:0005789, GO:0005789, GO:0005783, GO:0005634, GO:0000785, transcription repressor complex, integral component of membrane, plasma membrane, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, chromatin, GO:0033613, GO:0016616, GO:0008134, GO:0005515, GO:0004745, GO:0004745, GO:0003714, activating transcription factor binding, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, transcription factor binding, protein binding, retinol dehydrogenase activity, retinol dehydrogenase activity, transcription corepressor activity, GO:0055114, GO:0043616, GO:0042574, GO:0042574, GO:0042572, GO:0042572, GO:0042572, GO:0035067, GO:0031065, GO:0000122, oxidation-reduction process, keratinocyte proliferation, retinal metabolic process, retinal metabolic process, retinol metabolic process, retinol metabolic process, retinol metabolic process, negative regulation of histone acetylation, positive regulation of histone deacetylation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000170788 chr10 80336105 80356755 - DYDC1 protein_coding This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 143241 GO:0048188, GO:0044666, GO:0000781, Set1C/COMPASS complex, MLL3/4 complex, chromosome, telomeric region, GO:0005515, protein binding, GO:0051568, GO:0006348, histone H3-K4 methylation, chromatin silencing at telomere, 0 0 0 0 0 0 0 0 0 ENSG00000170790 chr11 6863057 6874717 + OR10A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 341276 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 1 0 0 0 0 ENSG00000170791 chr8 56211686 56218798 + CHCHD7 protein_coding 79145 GO:0005758, GO:0005575, mitochondrial intermembrane space, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 52 50 94 138 74 122 88 59 48 ENSG00000170801 chr4 8269765 8307111 + HTRA3 protein_coding 94031 GO:0005576, extracellular region, GO:0042802, GO:0008236, GO:0005520, GO:0005515, GO:0004252, GO:0004175, identical protein binding, serine-type peptidase activity, insulin-like growth factor binding, protein binding, serine-type endopeptidase activity, endopeptidase activity, GO:0030514, GO:0030512, GO:0006508, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, proteolysis, 0 0 1 0 0 4 0 0 0 ENSG00000170802 chr2 48314637 48379294 + FOXN2 protein_coding This gene encodes a forkhead domain binding protein and may function in the transcriptional regulation of the human T-cell leukemia virus long terminal repeat. [provided by RefSeq, Jul 2008]. 3344 GO:0043231, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003700, GO:0000987, GO:0000981, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0035914, GO:0006357, GO:0006355, skeletal muscle cell differentiation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 357 486 520 301 496 455 300 342 359 ENSG00000170807 chr7 123655807 123664290 + LMOD2 protein_coding 442721 GO:0031430, GO:0030017, GO:0030016, GO:0030016, GO:0005884, GO:0005865, GO:0005856, M band, sarcomere, myofibril, myofibril, actin filament, striated muscle thin filament, cytoskeleton, GO:0005523, GO:0005523, GO:0003785, GO:0003779, tropomyosin binding, tropomyosin binding, actin monomer binding, actin binding, GO:0051694, GO:0045214, GO:0045010, GO:0045010, GO:0030838, GO:0030239, GO:0030041, GO:0007015, GO:0006936, pointed-end actin filament capping, sarcomere organization, actin nucleation, actin nucleation, positive regulation of actin filament polymerization, myofibril assembly, actin filament polymerization, actin filament organization, muscle contraction, 0 1 2 1 3 0 0 2 2 ENSG00000170819 chr3 133399995 133475222 + BFSP2 protein_coding More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]. 8419 GO:0005938, GO:0005886, GO:0005882, cell cortex, plasma membrane, intermediate filament, GO:0005515, GO:0005212, GO:0005200, protein binding, structural constituent of eye lens, structural constituent of cytoskeleton, GO:0070307, GO:0050896, GO:0048469, GO:0045109, GO:0007601, lens fiber cell development, response to stimulus, cell maturation, intermediate filament organization, visual perception, 0 0 1 0 0 0 0 0 2 ENSG00000170820 chr2 48962157 49154537 - FSHR protein_coding The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 2492 GO:0043235, GO:0016021, GO:0005887, GO:0005886, GO:0005886, receptor complex, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0008528, GO:0005515, GO:0004963, GO:0004963, GO:0004963, G protein-coupled peptide receptor activity, protein binding, follicle-stimulating hormone receptor activity, follicle-stimulating hormone receptor activity, follicle-stimulating hormone receptor activity, GO:0071372, GO:0070374, GO:0042699, GO:0042699, GO:0042699, GO:0014068, GO:0010738, GO:0009755, GO:0008585, GO:0008584, GO:0008584, GO:0008406, GO:0007292, GO:0007283, GO:0007190, GO:0007189, GO:0007186, GO:0007186, cellular response to follicle-stimulating hormone stimulus, positive regulation of ERK1 and ERK2 cascade, follicle-stimulating hormone signaling pathway, follicle-stimulating hormone signaling pathway, follicle-stimulating hormone signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, regulation of protein kinase A signaling, hormone-mediated signaling pathway, female gonad development, male gonad development, male gonad development, gonad development, female gamete generation, spermatogenesis, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170827 chr9 133079900 133087355 + CELP transcribed_unprocessed_pseudogene 0 0 1 0 0 0 1 0 0 ENSG00000170832 chr17 60179094 60422470 - USP32 protein_coding 84669 GO:0016020, GO:0005829, GO:0005794, GO:0005794, membrane, cytosol, Golgi apparatus, Golgi apparatus, GO:0008234, GO:0005515, GO:0005509, GO:0004843, GO:0004843, cysteine-type peptidase activity, protein binding, calcium ion binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0016579, GO:0006511, protein deubiquitination, ubiquitin-dependent protein catabolic process, 4480 4497 5376 1718 3240 2739 2316 2364 2236 ENSG00000170835 chr9 133061978 133071861 + CEL protein_coding The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]. 1056 GO:0098793, GO:0070062, GO:0045202, GO:0009986, GO:0005887, GO:0005737, GO:0005615, GO:0005576, presynapse, extracellular exosome, synapse, cell surface, integral component of plasma membrane, cytoplasm, extracellular space, extracellular region, GO:0042043, GO:0038023, GO:0016787, GO:0008201, GO:0008126, GO:0005515, GO:0004806, GO:0004806, GO:0004771, GO:0004771, GO:0003824, neurexin family protein binding, signaling receptor activity, hydrolase activity, heparin binding, acetylesterase activity, protein binding, triglyceride lipase activity, triglyceride lipase activity, sterol esterase activity, sterol esterase activity, catalytic activity, GO:0097105, GO:0097104, GO:0050804, GO:0048488, GO:0044258, GO:0044241, GO:0030299, GO:0030157, GO:0018350, GO:0009062, GO:0007268, GO:0007158, GO:0006707, GO:0006707, GO:0006629, presynaptic membrane assembly, postsynaptic membrane assembly, modulation of chemical synaptic transmission, synaptic vesicle endocytosis, intestinal lipid catabolic process, lipid digestion, intestinal cholesterol absorption, pancreatic juice secretion, protein esterification, fatty acid catabolic process, chemical synaptic transmission, neuron cell-cell adhesion, cholesterol catabolic process, cholesterol catabolic process, lipid metabolic process, 1 0 0 2 6 0 2 2 0 ENSG00000170836 chr17 60600183 60666280 + PPM1D protein_coding The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]. 8493 GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, nucleoplasm, nucleus, nucleus, GO:0106307, GO:0106306, GO:0051019, GO:0051019, GO:0046872, GO:0005515, GO:0004722, GO:0004674, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, mitogen-activated protein kinase binding, metal ion binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine kinase activity, GO:0045814, GO:0035970, GO:0030330, GO:0009617, GO:0009314, GO:0009267, GO:0008285, GO:0006470, GO:0006468, GO:0006367, GO:0006342, GO:0006306, GO:0000086, negative regulation of gene expression, epigenetic, peptidyl-threonine dephosphorylation, DNA damage response, signal transduction by p53 class mediator, response to bacterium, response to radiation, cellular response to starvation, negative regulation of cell population proliferation, protein dephosphorylation, protein phosphorylation, transcription initiation from RNA polymerase II promoter, chromatin silencing, DNA methylation, G2/M transition of mitotic cell cycle, 579 516 615 323 495 311 383 358 290 ENSG00000170837 chr3 71754050 71756496 + GPR27 protein_coding GPR27 is a member of the G protein-coupled receptors (GPCRs), a large family of receptors that have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli such as neurotransmitters, hormones, or light induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins.[supplied by OMIM, May 2010]. 2850 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:1900738, GO:0035774, GO:0007186, GO:0007165, positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway, positive regulation of insulin secretion involved in cellular response to glucose stimulus, G protein-coupled receptor signaling pathway, signal transduction, 1030 605 950 161 303 234 182 335 256 ENSG00000170846 chr4 6663396 6676755 + AC093323.1 protein_coding 41 47 48 42 44 95 35 39 59 ENSG00000170848 chr19 42902079 42919563 - PSG6 protein_coding This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. 5675 GO:0005576, extracellular region, GO:0003674, molecular_function, GO:0007565, female pregnancy, 0 0 0 0 0 0 0 0 0 ENSG00000170852 chr7 32868172 32894131 - KBTBD2 protein_coding 25948 1506 1360 1962 1266 1485 1708 1268 1072 1333 ENSG00000170854 chr3 97941818 97972457 - RIOX2 protein_coding MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]. 84864 GO:0005829, GO:0005730, GO:0005730, GO:0005667, GO:0005654, GO:0005654, cytosol, nucleolus, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, GO:0051864, GO:0046872, GO:0042802, GO:0032453, GO:0016706, GO:0005515, GO:0003714, histone demethylase activity (H3-K36 specific), metal ion binding, identical protein binding, histone demethylase activity (H3-K4 specific), 2-oxoglutarate-dependent dioxygenase activity, protein binding, transcription corepressor activity, GO:1903507, GO:0070544, GO:0055114, GO:0042254, GO:0034720, negative regulation of nucleic acid-templated transcription, histone H3-K36 demethylation, oxidation-reduction process, ribosome biogenesis, histone H3-K4 demethylation, 11 16 24 53 25 87 49 28 26 ENSG00000170855 chr12 120443961 120446412 - TRIAP1 protein_coding 51499 GO:0048471, GO:0032991, GO:0005758, GO:0005758, GO:0005739, GO:0005654, perinuclear region of cytoplasm, protein-containing complex, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrion, nucleoplasm, GO:1990050, GO:0005515, GO:0002039, phosphatidic acid transfer activity, protein binding, p53 binding, GO:2001140, GO:1902166, GO:0120009, GO:0097035, GO:0090201, GO:0045944, GO:0043154, GO:0043066, GO:0042981, GO:0034644, GO:0030330, GO:0015914, GO:0006977, GO:0006915, positive regulation of phospholipid transport, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, intermembrane lipid transfer, regulation of membrane lipid distribution, negative regulation of release of cytochrome c from mitochondria, positive regulation of transcription by RNA polymerase II, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, regulation of apoptotic process, cellular response to UV, DNA damage response, signal transduction by p53 class mediator, phospholipid transport, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, apoptotic process, 9 6 19 19 11 22 24 10 4 ENSG00000170858 chr19 54707916 54713453 + LILRP2 transcribed_processed_pseudogene 79166 0 0 0 0 0 0 0 0 0 ENSG00000170860 chr3 14178358 14201119 + LSM3 protein_coding Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]. 27258 GO:1990726, GO:0120115, GO:0071013, GO:0071013, GO:0071011, GO:0071005, GO:0046540, GO:0046540, GO:0005829, GO:0005688, GO:0005654, GO:0005634, GO:0005634, GO:0000932, Lsm1-7-Pat1 complex, Lsm2-8 complex, catalytic step 2 spliceosome, catalytic step 2 spliceosome, precatalytic spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, cytosol, U6 snRNP, nucleoplasm, nucleus, nucleus, P-body, GO:0030629, GO:0005515, GO:0003723, GO:0003723, U6 snRNA 3'-end binding, protein binding, RNA binding, RNA binding, GO:0043928, GO:0033962, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000398, exonucleolytic catabolism of deadenylated mRNA, P-body assembly, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 264 218 274 188 205 169 176 165 132 ENSG00000170871 chr4 6781375 6884170 + KIAA0232 protein_coding 9778 GO:0005524, ATP binding, 2794 2782 3676 1321 2046 1878 1512 1595 1406 ENSG00000170873 chr8 124550790 124728429 - MTSS1 protein_coding 9788 GO:0030139, GO:0015629, GO:0005737, GO:0001726, endocytic vesicle, actin cytoskeleton, cytoplasm, ruffle, GO:0042802, GO:0005515, GO:0005102, GO:0003785, identical protein binding, protein binding, signaling receptor binding, actin monomer binding, GO:2001013, GO:0072160, GO:0072102, GO:0071498, GO:0061333, GO:0050680, GO:0030036, GO:0030035, GO:0007169, GO:0007155, GO:0007009, epithelial cell proliferation involved in renal tubule morphogenesis, nephron tubule epithelial cell differentiation, glomerulus morphogenesis, cellular response to fluid shear stress, renal tubule morphogenesis, negative regulation of epithelial cell proliferation, actin cytoskeleton organization, microspike assembly, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, plasma membrane organization, 35 49 43 134 66 73 113 78 57 ENSG00000170876 chr3 14124940 14143679 + TMEM43 protein_coding This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]. 79188 GO:0005794, GO:0005788, GO:0005639, Golgi apparatus, endoplasmic reticulum lumen, integral component of nuclear inner membrane, GO:0043621, GO:0042802, GO:0005515, protein self-association, identical protein binding, protein binding, GO:0071763, GO:0071763, nuclear membrane organization, nuclear membrane organization, 1271 1265 1717 851 1431 1103 852 1082 1094 ENSG00000170881 chr8 124474738 124487914 + RNF139 protein_coding The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008]. 11236 GO:0044322, GO:0036513, GO:0016021, GO:0012505, GO:0005789, GO:0005783, GO:0005783, endoplasmic reticulum quality control compartment, Derlin-1 retrotranslocation complex, integral component of membrane, endomembrane system, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0061630, GO:0061630, GO:0038023, GO:0019787, GO:0008270, GO:0005515, GO:0004842, GO:0004842, GO:0004842, GO:0002020, ubiquitin protein ligase activity, ubiquitin protein ligase activity, signaling receptor activity, ubiquitin-like protein transferase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, protease binding, GO:2000060, GO:1904380, GO:0070613, GO:0060628, GO:0036503, GO:0036503, GO:0031648, GO:0017148, GO:0016567, GO:0016567, GO:0016567, GO:0008285, positive regulation of ubiquitin-dependent protein catabolic process, endoplasmic reticulum mannose trimming, regulation of protein processing, regulation of ER to Golgi vesicle-mediated transport, ERAD pathway, ERAD pathway, protein destabilization, negative regulation of translation, protein ubiquitination, protein ubiquitination, protein ubiquitination, negative regulation of cell population proliferation, 551 648 560 563 969 750 561 714 640 ENSG00000170889 chr19 54200742 54249003 + RPS9 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008]. 6203 GO:1990904, GO:0070062, GO:0045202, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0005925, GO:0005840, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, ribonucleoprotein complex, extracellular exosome, synapse, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, focal adhesion, ribosome, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0045182, GO:0019843, GO:0005515, GO:0003735, GO:0003723, translation regulator activity, rRNA binding, protein binding, structural constituent of ribosome, RNA binding, GO:0045903, GO:0019083, GO:0008284, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0006364, GO:0000184, positive regulation of translational fidelity, viral transcription, positive regulation of cell population proliferation, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 3 2 3 7 7 10 4 7 4 ENSG00000170890 chr12 120322111 120327789 - PLA2G1B protein_coding This gene encodes a secreted member of the phospholipase A2 (PLA2) class of enzymes, which is produced by the pancreatic acinar cells. The encoded calcium-dependent enzyme catalyzes the hydrolysis of the sn-2 position of membrane glycerophospholipids to release arachidonic acid (AA) and lysophospholipids. AA is subsequently converted by downstream metabolic enzymes to several bioactive lipophilic compounds (eicosanoids), including prostaglandins (PGs) and leukotrienes (LTs). The enzyme may be involved in several physiological processes including cell contraction, cell proliferation and pathological response. [provided by RefSeq, Aug 2013]. 5319 GO:0030141, GO:0009986, GO:0005615, GO:0005576, secretory granule, cell surface, extracellular space, extracellular region, GO:0102568, GO:0102567, GO:0047498, GO:0032052, GO:0005509, GO:0005102, GO:0005102, GO:0005102, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, bile acid binding, calcium ion binding, signaling receptor binding, signaling receptor binding, signaling receptor binding, phospholipase A2 activity, GO:1904635, GO:0061844, GO:0051092, GO:0050830, GO:0050778, GO:0050714, GO:0050482, GO:0048146, GO:0048146, GO:0046471, GO:0046470, GO:0046324, GO:0045944, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0035556, GO:0032869, GO:0032637, GO:0032431, GO:0030593, GO:0019731, GO:0019370, GO:0016042, GO:0010524, GO:0008284, GO:0007165, GO:0007015, GO:0006654, GO:0006633, GO:0006633, GO:0002446, GO:0002227, GO:0000187, positive regulation of glomerular visceral epithelial cell apoptotic process, antimicrobial humoral immune response mediated by antimicrobial peptide, positive regulation of NF-kappaB transcription factor activity, defense response to Gram-positive bacterium, positive regulation of immune response, positive regulation of protein secretion, arachidonic acid secretion, positive regulation of fibroblast proliferation, positive regulation of fibroblast proliferation, phosphatidylglycerol metabolic process, phosphatidylcholine metabolic process, regulation of glucose import, positive regulation of transcription by RNA polymerase II, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, intracellular signal transduction, cellular response to insulin stimulus, interleukin-8 production, activation of phospholipase A2 activity, neutrophil chemotaxis, antibacterial humoral response, leukotriene biosynthetic process, lipid catabolic process, positive regulation of calcium ion transport into cytosol, positive regulation of cell population proliferation, signal transduction, actin filament organization, phosphatidic acid biosynthetic process, fatty acid biosynthetic process, fatty acid biosynthetic process, neutrophil mediated immunity, innate immune response in mucosa, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000170891 chr4 5014586 5019472 - CYTL1 protein_coding C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008]. 54360 GO:0005615, extracellular space, GO:0005102, signaling receptor binding, GO:1990079, GO:0051091, GO:0050650, GO:0048839, GO:0045944, GO:0007165, GO:0002062, cartilage homeostasis, positive regulation of DNA-binding transcription factor activity, chondroitin sulfate proteoglycan biosynthetic process, inner ear development, positive regulation of transcription by RNA polymerase II, signal transduction, chondrocyte differentiation, 0 0 0 0 0 0 0 1 0 ENSG00000170892 chr19 54189938 54194536 + TSEN34 protein_coding This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]. 79042 GO:0005730, GO:0005654, GO:0005654, GO:0000214, nucleolus, nucleoplasm, nucleoplasm, tRNA-intron endonuclease complex, GO:0016829, GO:0003676, GO:0000213, lyase activity, nucleic acid binding, tRNA-intron endonuclease activity, GO:0090502, GO:0006397, GO:0006388, GO:0000379, RNA phosphodiester bond hydrolysis, endonucleolytic, mRNA processing, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA-type intron splice site recognition and cleavage, 0 0 1 1 11 10 0 8 3 ENSG00000170893 chr3 129974305 129977938 + TRH protein_coding This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The human proprotein contains six thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Deficiency of this hormone has been associated with hypothalamic hypothyroidism. [provided by RefSeq, May 2013]. 7200 GO:0030141, GO:0005886, GO:0005634, GO:0005576, secretory granule, plasma membrane, nucleus, extracellular region, GO:0008437, GO:0005515, thyrotropin-releasing hormone activity, protein binding, GO:0042755, GO:0032024, GO:0014054, GO:0014050, GO:0009755, GO:0007267, GO:0007186, GO:0007165, GO:0001692, eating behavior, positive regulation of insulin secretion, positive regulation of gamma-aminobutyric acid secretion, negative regulation of glutamate secretion, hormone-mediated signaling pathway, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, histamine metabolic process, 0 0 0 3 0 0 0 0 0 ENSG00000170899 chr6 52977948 52995378 - GSTA4 protein_coding Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008]. 2941 GO:0005829, cytosol, GO:0042803, GO:0042802, GO:0005515, GO:0004364, GO:0004364, protein homodimerization activity, identical protein binding, protein binding, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0006805, GO:0006805, GO:0006749, GO:0006749, glutathione derivative biosynthetic process, xenobiotic metabolic process, xenobiotic metabolic process, glutathione metabolic process, glutathione metabolic process, 0 1 0 3 3 3 0 1 0 ENSG00000170903 chr11 105995623 106022403 - MSANTD4 protein_coding 84437 GO:0005634, nucleus, GO:0005515, protein binding, 32 32 35 32 14 15 30 19 25 ENSG00000170906 chr19 54102728 54109257 + NDUFA3 protein_coding 4696 GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 0 1 2 0 0 0 0 1 0 ENSG00000170909 chr19 54094668 54102692 - OSCAR protein_coding Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]. 126014 GO:1904724, GO:0070062, GO:0035580, GO:0016021, GO:0005886, GO:0005576, tertiary granule lumen, extracellular exosome, specific granule lumen, integral component of membrane, plasma membrane, extracellular region, GO:0038064, GO:0038064, collagen receptor activity, collagen receptor activity, GO:0050776, GO:0043312, GO:0038065, GO:0030316, regulation of immune response, neutrophil degranulation, collagen-activated signaling pathway, osteoclast differentiation, 30 49 83 8 15 25 10 15 17 ENSG00000170915 chr6 52361421 52407777 + PAQR8 protein_coding 85315 GO:0016021, GO:0005886, GO:0005886, GO:0005794, integral component of membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0038023, GO:0005515, GO:0005496, GO:0003707, signaling receptor activity, protein binding, steroid binding, steroid hormone receptor activity, GO:0048545, GO:0048477, GO:0043401, GO:0007275, response to steroid hormone, oogenesis, steroid hormone mediated signaling pathway, multicellular organism development, 24 17 78 35 5 52 25 16 52 ENSG00000170917 chr4 122888697 122922968 - NUDT6 protein_coding This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 11162 GO:0005739, GO:0005737, GO:0005634, mitochondrion, cytoplasm, nucleus, GO:0051287, GO:0047631, GO:0035529, NAD binding, ADP-ribose diphosphatase activity, NADH pyrophosphatase activity, GO:0045786, GO:0008285, negative regulation of cell cycle, negative regulation of cell population proliferation, 0 0 0 6 0 0 2 1 5 ENSG00000170919 chr13 45341345 45393413 + TPT1-AS1 processed_transcript 118 111 115 180 168 161 197 92 59 ENSG00000170920 chr19 9126012 9126950 - OR7G3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390883 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170921 chr17 63009556 63427699 + TANC2 protein_coding 26115 GO:0043197, GO:0030424, dendritic spine, axon, GO:0099519, GO:0061001, GO:0060998, GO:0001701, dense core granule cytoskeletal transport, regulation of dendritic spine morphogenesis, regulation of dendritic spine development, in utero embryonic development, 268 411 534 235 363 499 272 294 425 ENSG00000170923 chr19 9100407 9107475 - OR7G2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390882 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170925 chrX 107980864 107982370 - TEX13B protein_coding This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008]. 56156 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000170927 chr6 51615300 52087625 - PKHD1 protein_coding The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]. 5314 GO:0072686, GO:0070062, GO:0070062, GO:0048471, GO:0036064, GO:0031362, GO:0016324, GO:0016021, GO:0005929, GO:0005929, GO:0005813, GO:0005794, GO:0005783, GO:0005737, GO:0000775, mitotic spindle, extracellular exosome, extracellular exosome, perinuclear region of cytoplasm, ciliary basal body, anchored component of external side of plasma membrane, apical plasma membrane, integral component of membrane, cilium, cilium, centrosome, Golgi apparatus, endoplasmic reticulum, cytoplasm, chromosome, centromeric region, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:1904054, GO:1904036, GO:0098609, GO:0090175, GO:0070372, GO:0060271, GO:0051898, GO:0051660, GO:0051271, GO:0050679, GO:0048754, GO:0045216, GO:0043066, GO:0042592, GO:0032088, GO:0032006, GO:0030155, GO:0022407, GO:0010824, GO:0008284, GO:0006874, GO:0003382, GO:0001952, GO:0001822, GO:0000132, regulation of cholangiocyte proliferation, negative regulation of epithelial cell apoptotic process, cell-cell adhesion, regulation of establishment of planar polarity, regulation of ERK1 and ERK2 cascade, cilium assembly, negative regulation of protein kinase B signaling, establishment of centrosome localization, negative regulation of cellular component movement, positive regulation of epithelial cell proliferation, branching morphogenesis of an epithelial tube, cell-cell junction organization, negative regulation of apoptotic process, homeostatic process, negative regulation of NF-kappaB transcription factor activity, regulation of TOR signaling, regulation of cell adhesion, regulation of cell-cell adhesion, regulation of centrosome duplication, positive regulation of cell population proliferation, cellular calcium ion homeostasis, epithelial cell morphogenesis, regulation of cell-matrix adhesion, kidney development, establishment of mitotic spindle orientation, 0 0 0 0 0 3 0 0 1 ENSG00000170929 chr19 9087061 9095669 + OR1M1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 125963 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170935 chrX 107774899 107795829 + NCBP2L protein_coding 392517 GO:0005846, nuclear cap binding complex, GO:0000339, RNA cap binding, GO:0045292, GO:0000398, mRNA cis splicing, via spliceosome, mRNA splicing, via spliceosome, 2 1 3 2 2 0 0 0 0 ENSG00000170946 chr11 31369840 31431849 + DNAJC24 protein_coding Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]. 120526 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0008270, GO:0008198, GO:0008198, GO:0001671, GO:0001671, zinc ion binding, ferrous iron binding, ferrous iron binding, ATPase activator activity, ATPase activator activity, GO:0061077, GO:0055114, GO:0032781, GO:0032781, GO:0017183, chaperone-mediated protein folding, oxidation-reduction process, positive regulation of ATPase activity, positive regulation of ATPase activity, peptidyl-diphthamide biosynthetic process from peptidyl-histidine, 10 8 17 16 8 32 27 4 21 ENSG00000170948 chr19 8832398 8843340 + MBD3L1 protein_coding This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008]. 85509 GO:0005634, nucleus, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000170949 chr19 53066606 53103436 - ZNF160 protein_coding The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Multiple transcript variants have been found for this gene. [provided by RefSeq, Apr 2016]. 90338 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030097, GO:0006357, hemopoiesis, regulation of transcription by RNA polymerase II, 325 281 326 339 327 333 283 193 265 ENSG00000170950 chr6 49785651 49787307 - PGK2 protein_coding This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010]. 5232 GO:0070062, GO:0035686, GO:0005829, GO:0005634, extracellular exosome, sperm fibrous sheath, cytosol, nucleus, GO:0043531, GO:0005524, GO:0005524, GO:0004618, GO:0004618, GO:0004618, ADP binding, ATP binding, ATP binding, phosphoglycerate kinase activity, phosphoglycerate kinase activity, phosphoglycerate kinase activity, GO:1903862, GO:0030317, GO:0016310, GO:0016310, GO:0006096, GO:0006096, GO:0006096, GO:0006094, positive regulation of oxidative phosphorylation, flagellated sperm motility, phosphorylation, phosphorylation, glycolytic process, glycolytic process, glycolytic process, gluconeogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000170953 chr11 124539635 124545333 - OR8B12 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219858 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000170954 chr19 53107879 53133077 - ZNF415 protein_coding 55786 GO:0015630, GO:0005737, GO:0005634, GO:0001650, microtubule cytoskeleton, cytoplasm, nucleus, fibrillar center, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 1 3 1 4 0 0 2 0 ENSG00000170955 chr11 6318946 6320647 - CAVIN3 protein_coding The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]. 112464 GO:0032991, GO:0005901, GO:0005901, GO:0005829, GO:0005737, GO:0005737, protein-containing complex, caveola, caveola, cytosol, cytoplasm, cytoplasm, GO:0005515, GO:0005080, protein binding, protein kinase C binding, GO:1901003, GO:0070374, GO:0051898, GO:0032922, GO:0030866, negative regulation of fermentation, positive regulation of ERK1 and ERK2 cascade, negative regulation of protein kinase B signaling, circadian regulation of gene expression, cortical actin cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000170956 chr19 41796437 41811553 + CEACAM3 protein_coding This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]. 1084 GO:0035579, GO:0016021, GO:0005886, specific granule membrane, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0050900, GO:0043312, leukocyte migration, neutrophil degranulation, 3488 2537 5531 948 1710 1402 1329 1483 1505 ENSG00000170959 chr11 30830369 31369810 - DCDC1 protein_coding This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog. [provided by RefSeq, Sep 2010]. 341019 GO:0090543, GO:0072686, GO:0030496, GO:0005874, GO:0005737, Flemming body, mitotic spindle, midbody, microtubule, cytoplasm, GO:0030246, GO:0008017, GO:0005515, carbohydrate binding, microtubule binding, protein binding, GO:1902412, GO:0051301, GO:0035556, GO:0007049, regulation of mitotic cytokinesis, cell division, intracellular signal transduction, cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000170961 chr8 121612116 121641390 - HAS2 protein_coding Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008]. 3037 GO:0044853, GO:0031410, GO:0005887, GO:0005887, plasma membrane raft, cytoplasmic vesicle, integral component of plasma membrane, integral component of plasma membrane, GO:0050501, GO:0050501, GO:0050501, GO:0042802, GO:0005515, hyaluronan synthase activity, hyaluronan synthase activity, hyaluronan synthase activity, identical protein binding, protein binding, GO:1901201, GO:1900625, GO:1900127, GO:1900026, GO:0090500, GO:0085029, GO:0085029, GO:0071498, GO:0071356, GO:0071347, GO:0070295, GO:0060349, GO:0051549, GO:0045226, GO:0045226, GO:0044849, GO:0036302, GO:0036120, GO:0035810, GO:0030335, GO:0030213, GO:0030213, GO:0030213, GO:0030213, GO:0030213, GO:0014911, GO:0010838, GO:0008284, GO:0001822, GO:0001570, regulation of extracellular matrix assembly, positive regulation of monocyte aggregation, positive regulation of hyaluronan biosynthetic process, positive regulation of substrate adhesion-dependent cell spreading, endocardial cushion to mesenchymal transition, extracellular matrix assembly, extracellular matrix assembly, cellular response to fluid shear stress, cellular response to tumor necrosis factor, cellular response to interleukin-1, renal water absorption, bone morphogenesis, positive regulation of keratinocyte migration, extracellular polysaccharide biosynthetic process, extracellular polysaccharide biosynthetic process, estrous cycle, atrioventricular canal development, cellular response to platelet-derived growth factor stimulus, positive regulation of urine volume, positive regulation of cell migration, hyaluronan biosynthetic process, hyaluronan biosynthetic process, hyaluronan biosynthetic process, hyaluronan biosynthetic process, hyaluronan biosynthetic process, positive regulation of smooth muscle cell migration, positive regulation of keratinocyte proliferation, positive regulation of cell population proliferation, kidney development, vasculogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000170962 chr11 103907186 104164379 - PDGFD protein_coding The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]. 80310 GO:0005788, GO:0005615, GO:0005576, GO:0000139, endoplasmic reticulum lumen, extracellular space, extracellular region, Golgi membrane, GO:0070851, GO:0008083, GO:0005161, growth factor receptor binding, growth factor activity, platelet-derived growth factor receptor binding, GO:2000439, GO:0072126, GO:0071673, GO:0071560, GO:0071230, GO:0070374, GO:0070301, GO:0051781, GO:0050730, GO:0048661, GO:0048146, GO:0048008, GO:0043406, GO:0036120, GO:0031954, GO:0030335, GO:0014068, GO:0008284, GO:0007275, positive regulation of monocyte extravasation, positive regulation of glomerular mesangial cell proliferation, positive regulation of smooth muscle cell chemotaxis, cellular response to transforming growth factor beta stimulus, cellular response to amino acid stimulus, positive regulation of ERK1 and ERK2 cascade, cellular response to hydrogen peroxide, positive regulation of cell division, regulation of peptidyl-tyrosine phosphorylation, positive regulation of smooth muscle cell proliferation, positive regulation of fibroblast proliferation, platelet-derived growth factor receptor signaling pathway, positive regulation of MAP kinase activity, cellular response to platelet-derived growth factor stimulus, positive regulation of protein autophosphorylation, positive regulation of cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of cell population proliferation, multicellular organism development, 14 10 32 13 6 43 4 18 34 ENSG00000170965 chrX 134565838 134764322 - PLAC1 protein_coding 10761 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0003674, molecular_function, GO:0001890, placenta development, 0 0 0 0 0 0 0 0 0 ENSG00000170967 chr11 104036580 104039188 + DDI1 protein_coding 414301 GO:0005515, GO:0004190, protein binding, aspartic-type endopeptidase activity, GO:0097752, GO:0072711, GO:0031647, GO:0010498, regulation of DNA stability, cellular response to hydroxyurea, regulation of protein stability, proteasomal protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000170983 chr8 11576313 11581342 + LINC00208 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000170989 chr1 101236865 101243713 + S1PR1 protein_coding The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 1901 GO:0045121, GO:0043231, GO:0031226, GO:0016021, GO:0009897, GO:0005886, GO:0005886, GO:0005768, GO:0005737, GO:0005654, membrane raft, intracellular membrane-bounded organelle, intrinsic component of plasma membrane, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, endosome, cytoplasm, nucleoplasm, GO:0046625, GO:0038036, GO:0038036, GO:0005515, GO:0004930, GO:0001664, sphingolipid binding, sphingosine-1-phosphate receptor activity, sphingosine-1-phosphate receptor activity, protein binding, G protein-coupled receptor activity, G protein-coupled receptor binding, GO:0072678, GO:0061384, GO:0051497, GO:0051482, GO:0050927, GO:0048661, GO:0045944, GO:0045446, GO:0045124, GO:0043547, GO:0031532, GO:0030595, GO:0030500, GO:0030335, GO:0030182, GO:0030155, GO:0030032, GO:0019226, GO:0019222, GO:0019221, GO:0016477, GO:0007420, GO:0007193, GO:0007189, GO:0007186, GO:0007155, GO:0006935, GO:0003376, GO:0003376, GO:0003245, GO:0001955, GO:0001525, T cell migration, heart trabecula morphogenesis, negative regulation of stress fiber assembly, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of positive chemotaxis, positive regulation of smooth muscle cell proliferation, positive regulation of transcription by RNA polymerase II, endothelial cell differentiation, regulation of bone resorption, positive regulation of GTPase activity, actin cytoskeleton reorganization, leukocyte chemotaxis, regulation of bone mineralization, positive regulation of cell migration, neuron differentiation, regulation of cell adhesion, lamellipodium assembly, transmission of nerve impulse, regulation of metabolic process, cytokine-mediated signaling pathway, cell migration, brain development, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell adhesion, chemotaxis, sphingosine-1-phosphate receptor signaling pathway, sphingosine-1-phosphate receptor signaling pathway, cardiac muscle tissue growth involved in heart morphogenesis, blood vessel maturation, angiogenesis, 287 193 572 124 65 163 119 41 123 ENSG00000171004 chrX 132626016 132961395 - HS6ST2 protein_coding Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 90161 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0017095, heparan sulfate 6-O-sulfotransferase activity, GO:0015015, GO:0006024, heparan sulfate proteoglycan biosynthetic process, enzymatic modification, glycosaminoglycan biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000171014 chr11 123939543 123940637 + OR4D5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219875 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171016 chr15 55538890 55588947 - PYGO1 protein_coding 26108 GO:0005654, nucleoplasm, GO:0046872, GO:0035064, GO:0005515, metal ion binding, methylated histone binding, protein binding, GO:1904837, GO:0060070, GO:0045944, GO:0034504, GO:0007289, GO:0002244, GO:0001822, beta-catenin-TCF complex assembly, canonical Wnt signaling pathway, positive regulation of transcription by RNA polymerase II, protein localization to nucleus, spermatid nucleus differentiation, hematopoietic progenitor cell differentiation, kidney development, 0 0 0 0 0 0 0 0 0 ENSG00000171017 chr19 7888505 7902021 + LRRC8E protein_coding This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]. 80131 GO:0034702, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005737, ion channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, cytoplasm, GO:0005515, GO:0005225, GO:0005225, protein binding, volume-sensitive anion channel activity, volume-sensitive anion channel activity, GO:0098656, GO:0071470, GO:0055085, GO:0015810, GO:0015698, anion transmembrane transport, cellular response to osmotic stress, transmembrane transport, aspartate transmembrane transport, inorganic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000171033 chr8 78516139 78605267 + PKIA protein_coding The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. 5569 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0034236, GO:0005515, GO:0004862, GO:0004862, GO:0004862, protein kinase A catalytic subunit binding, protein binding, cAMP-dependent protein kinase inhibitor activity, cAMP-dependent protein kinase inhibitor activity, cAMP-dependent protein kinase inhibitor activity, GO:2000480, GO:2000480, GO:0042308, GO:0010389, GO:0000122, negative regulation of cAMP-dependent protein kinase activity, negative regulation of cAMP-dependent protein kinase activity, negative regulation of protein import into nucleus, regulation of G2/M transition of mitotic cell cycle, negative regulation of transcription by RNA polymerase II, 20 8 19 51 21 24 22 21 22 ENSG00000171044 chr8 10896045 11201366 - XKR6 protein_coding 286046 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:1902742, GO:0070782, GO:0043652, apoptotic process involved in development, phosphatidylserine exposure on apoptotic cell surface, engulfment of apoptotic cell, 6 8 9 17 55 31 15 53 53 ENSG00000171045 chr8 142212080 142403240 - TSNARE1 protein_coding 203062 GO:0031201, GO:0016021, GO:0012505, SNARE complex, integral component of membrane, endomembrane system, GO:0005484, GO:0000149, SNAP receptor activity, SNARE binding, GO:0048278, GO:0006906, GO:0006886, vesicle docking, vesicle fusion, intracellular protein transport, 24 23 38 40 29 46 25 41 57 ENSG00000171049 chr19 51752026 51770526 + FPR2 protein_coding 2358 GO:0101003, GO:0070821, GO:0035579, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005737, ficolin-1-rich granule membrane, tertiary granule membrane, specific granule membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, cytoplasm, GO:0038024, GO:0038023, GO:0005515, GO:0005124, GO:0004982, GO:0004930, GO:0004930, GO:0004875, GO:0001540, GO:0001540, cargo receptor activity, signaling receptor activity, protein binding, scavenger receptor binding, N-formyl peptide receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, complement receptor activity, amyloid-beta binding, amyloid-beta binding, GO:1904646, GO:1904646, GO:0090026, GO:0070374, GO:0070374, GO:0061903, GO:0050918, GO:0050766, GO:0050728, GO:0048143, GO:0045089, GO:0043312, GO:0042742, GO:0032930, GO:0019722, GO:0007204, GO:0007200, GO:0007193, GO:0007193, GO:0007186, GO:0007186, GO:0007186, GO:0007166, GO:0007155, GO:0006954, GO:0006935, GO:0006898, GO:0002768, GO:0002430, GO:0001934, GO:0001774, cellular response to amyloid-beta, cellular response to amyloid-beta, positive regulation of monocyte chemotaxis, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of 1-phosphatidylinositol-3-kinase activity, positive chemotaxis, positive regulation of phagocytosis, negative regulation of inflammatory response, astrocyte activation, positive regulation of innate immune response, neutrophil degranulation, defense response to bacterium, positive regulation of superoxide anion generation, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cell adhesion, inflammatory response, chemotaxis, receptor-mediated endocytosis, immune response-regulating cell surface receptor signaling pathway, complement receptor mediated signaling pathway, positive regulation of protein phosphorylation, microglial cell activation, 8348 6161 9102 887 2561 1265 1593 2566 1230 ENSG00000171051 chr19 51745172 51804110 - FPR1 protein_coding This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]. 2357 GO:0101003, GO:0035577, GO:0030667, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005737, ficolin-1-rich granule membrane, azurophil granule membrane, secretory granule membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0050786, GO:0005515, GO:0005124, GO:0004982, GO:0004982, GO:0004930, GO:0004875, GO:0001664, RAGE receptor binding, protein binding, scavenger receptor binding, N-formyl peptide receptor activity, N-formyl peptide receptor activity, G protein-coupled receptor activity, complement receptor activity, G protein-coupled receptor binding, GO:0043312, GO:0019221, GO:0007263, GO:0007204, GO:0007200, GO:0007200, GO:0007188, GO:0007186, GO:0007165, GO:0006954, GO:0006935, GO:0002430, GO:0000187, neutrophil degranulation, cytokine-mediated signaling pathway, nitric oxide mediated signal transduction, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, complement receptor mediated signaling pathway, activation of MAPK activity, 28945 20561 33231 4979 10520 7163 8412 11006 7605 ENSG00000171053 chr11 125746293 125749867 + PATE1 protein_coding 160065 GO:0005576, extracellular region, GO:0030548, GO:0005515, acetylcholine receptor regulator activity, protein binding, GO:0099601, regulation of neurotransmitter receptor activity, 0 0 0 0 0 0 0 0 0 ENSG00000171054 chrX 131543976 131545056 + OR13H1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 347468 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171055 chr2 36531805 36646087 - FEZ2 protein_coding This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]. 9637 GO:0030424, GO:0005737, axon, cytoplasm, GO:0005515, protein binding, GO:1902902, GO:0007411, GO:0007399, GO:0007165, negative regulation of autophagosome assembly, axon guidance, nervous system development, signal transduction, 134 192 208 96 274 221 143 184 201 ENSG00000171056 chr8 10723768 10730512 - SOX7 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]. 83595 GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060828, GO:0045893, GO:0045892, GO:0043280, GO:0030154, GO:0009653, GO:0008285, GO:0006357, GO:0006355, GO:0001706, regulation of canonical Wnt signaling pathway, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, cell differentiation, anatomical structure morphogenesis, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, endoderm formation, 0 0 1 0 0 0 0 0 2 ENSG00000171060 chr8 10672637 10700593 + C8orf74 protein_coding 203076 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000171067 chr11 68261335 68272001 - C11orf24 protein_coding 53838 GO:0016021, GO:0005886, GO:0005794, integral component of membrane, plasma membrane, Golgi apparatus, GO:0005515, protein binding, 14 19 25 17 17 15 25 5 19 ENSG00000171084 chr3 125916620 125930024 + FAM86JP transcribed_unprocessed_pseudogene 100125556 0 0 0 0 0 1 0 0 1 ENSG00000171094 chr2 29192774 29921566 - ALK protein_coding This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]. 238 GO:0070062, GO:0043235, GO:0032991, GO:0005887, GO:0005887, GO:0005887, GO:0005886, extracellular exosome, receptor complex, protein-containing complex, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0005524, GO:0005515, GO:0004714, GO:0004714, GO:0004714, GO:0004713, GO:0004704, identical protein binding, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, NF-kappaB-inducing kinase activity, GO:1900006, GO:0097009, GO:0090648, GO:0060159, GO:0051092, GO:0050995, GO:0048666, GO:0046777, GO:0046777, GO:0045664, GO:0042981, GO:0042127, GO:0038061, GO:0036269, GO:0033674, GO:0030534, GO:0021766, GO:0018108, GO:0016310, GO:0007275, GO:0007169, GO:0007165, GO:0000187, positive regulation of dendrite development, energy homeostasis, response to environmental enrichment, regulation of dopamine receptor signaling pathway, positive regulation of NF-kappaB transcription factor activity, negative regulation of lipid catabolic process, neuron development, protein autophosphorylation, protein autophosphorylation, regulation of neuron differentiation, regulation of apoptotic process, regulation of cell population proliferation, NIK/NF-kappaB signaling, swimming behavior, positive regulation of kinase activity, adult behavior, hippocampus development, peptidyl-tyrosine phosphorylation, phosphorylation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, activation of MAPK activity, 0 0 0 3 0 0 0 0 0 ENSG00000171097 chr9 128832942 128882494 - KYAT1 protein_coding This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 883 GO:0005829, GO:0005829, GO:0005739, GO:0005737, cytosol, cytosol, mitochondrion, cytoplasm, GO:0047804, GO:0047316, GO:0042803, GO:0030170, GO:0016212, GO:0016212, GO:0008483, GO:0005515, cysteine-S-conjugate beta-lyase activity, glutamine-phenylpyruvate transaminase activity, protein homodimerization activity, pyridoxal phosphate binding, kynurenine-oxoglutarate transaminase activity, kynurenine-oxoglutarate transaminase activity, transaminase activity, protein binding, GO:0097053, GO:0070189, GO:0008652, GO:0006575, GO:0006569, GO:0006559, L-kynurenine catabolic process, kynurenine metabolic process, cellular amino acid biosynthetic process, cellular modified amino acid metabolic process, tryptophan catabolic process, L-phenylalanine catabolic process, 31 38 30 36 50 20 21 31 21 ENSG00000171100 chrX 150568619 150673322 + MTM1 protein_coding This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]. 4534 GO:0030175, GO:0030017, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005770, GO:0005737, GO:0005737, GO:0001726, filopodium, sarcomere, membrane, plasma membrane, plasma membrane, cytosol, cytosol, late endosome, cytoplasm, cytoplasm, ruffle, GO:0052629, GO:0052629, GO:0035091, GO:0019215, GO:0005515, GO:0004725, GO:0004721, GO:0004438, GO:0004438, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity, phosphatidylinositol binding, intermediate filament binding, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, phosphatidylinositol-3-phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:1902902, GO:0070584, GO:0070584, GO:0048311, GO:0048311, GO:0046856, GO:0046856, GO:0046716, GO:0045109, GO:0044088, GO:0035335, GO:0015031, GO:0008333, GO:0006661, GO:0006470, negative regulation of autophagosome assembly, mitochondrion morphogenesis, mitochondrion morphogenesis, mitochondrion distribution, mitochondrion distribution, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, muscle cell cellular homeostasis, intermediate filament organization, regulation of vacuole organization, peptidyl-tyrosine dephosphorylation, protein transport, endosome to lysosome transport, phosphatidylinositol biosynthetic process, protein dephosphorylation, 283 240 278 256 213 285 273 180 193 ENSG00000171101 chr19 51167328 51173524 + SIGLEC17P transcribed_unprocessed_pseudogene 284367 8 34 28 19 59 18 24 33 9 ENSG00000171102 chr9 133205277 133209250 - OBP2B protein_coding 29989 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0036094, GO:0005549, GO:0005549, small molecule binding, odorant binding, odorant binding, GO:0007635, GO:0007608, chemosensory behavior, sensory perception of smell, 0 0 0 0 0 0 0 0 0 ENSG00000171103 chr2 28849821 28870301 - TRMT61B protein_coding 55006 GO:0031515, GO:0005759, GO:0005739, GO:0005739, tRNA (m1A) methyltransferase complex, mitochondrial matrix, mitochondrion, mitochondrion, GO:0061953, GO:0016433, GO:0016429, GO:0005515, mRNA (adenine-N1-)-methyltransferase activity, rRNA (adenine) methyltransferase activity, tRNA (adenine-N1-)-methyltransferase activity, protein binding, GO:0080009, GO:0070901, GO:0070901, GO:0070901, GO:0051260, GO:0031167, GO:0030488, mRNA methylation, mitochondrial tRNA methylation, mitochondrial tRNA methylation, mitochondrial tRNA methylation, protein homooligomerization, rRNA methylation, tRNA methylation, 8 3 16 32 13 25 21 9 16 ENSG00000171105 chr19 7112255 7294034 - INSR protein_coding This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 3643 GO:0070062, GO:0043235, GO:0043235, GO:0032809, GO:0032590, GO:0031981, GO:0030424, GO:0016020, GO:0010008, GO:0009897, GO:0005901, GO:0005899, GO:0005899, GO:0005899, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005770, GO:0005764, GO:0005635, extracellular exosome, receptor complex, receptor complex, neuronal cell body membrane, dendrite membrane, nuclear lumen, axon, membrane, endosome membrane, external side of plasma membrane, caveola, insulin receptor complex, insulin receptor complex, insulin receptor complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, late endosome, lysosome, nuclear envelope, GO:0051425, GO:0044877, GO:0043560, GO:0043560, GO:0043559, GO:0043559, GO:0043548, GO:0038024, GO:0031995, GO:0031994, GO:0019904, GO:0005525, GO:0005524, GO:0005515, GO:0005159, GO:0005009, GO:0005009, GO:0004714, GO:0004713, GO:0004713, GO:0001540, PTB domain binding, protein-containing complex binding, insulin receptor substrate binding, insulin receptor substrate binding, insulin binding, insulin binding, phosphatidylinositol 3-kinase binding, cargo receptor activity, insulin-like growth factor II binding, insulin-like growth factor I binding, protein domain specific binding, GTP binding, ATP binding, protein binding, insulin-like growth factor receptor binding, insulin-activated receptor activity, insulin-activated receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, amyloid-beta binding, GO:2000194, GO:1990535, GO:0150104, GO:0097242, GO:0097062, GO:0071363, GO:0060267, GO:0051897, GO:0051897, GO:0051446, GO:0048639, GO:0046777, GO:0046777, GO:0046326, GO:0046326, GO:0045995, GO:0045893, GO:0045840, GO:0045821, GO:0045725, GO:0045429, GO:0043410, GO:0043410, GO:0043410, GO:0043243, GO:0042593, GO:0042593, GO:0038083, GO:0033674, GO:0032869, GO:0032148, GO:0032147, GO:0031017, GO:0030335, GO:0030325, GO:0030238, GO:0019087, GO:0018108, GO:0014068, GO:0008584, GO:0008544, GO:0008286, GO:0008286, GO:0008286, GO:0008284, GO:0008284, GO:0008284, GO:0007613, GO:0007612, GO:0007275, GO:0007186, GO:0007169, GO:0006898, GO:0006468, GO:0006355, GO:0005975, GO:0003007, GO:0002092, GO:0001934, GO:0000187, regulation of female gonad development, neuron projection maintenance, transport across blood-brain barrier, amyloid-beta clearance, dendritic spine maintenance, cellular response to growth factor stimulus, positive regulation of respiratory burst, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of meiotic cell cycle, positive regulation of developmental growth, protein autophosphorylation, protein autophosphorylation, positive regulation of glucose import, positive regulation of glucose import, regulation of embryonic development, positive regulation of transcription, DNA-templated, positive regulation of mitotic nuclear division, positive regulation of glycolytic process, positive regulation of glycogen biosynthetic process, positive regulation of nitric oxide biosynthetic process, positive regulation of MAPK cascade, positive regulation of MAPK cascade, positive regulation of MAPK cascade, positive regulation of protein-containing complex disassembly, glucose homeostasis, glucose homeostasis, peptidyl-tyrosine autophosphorylation, positive regulation of kinase activity, cellular response to insulin stimulus, activation of protein kinase B activity, activation of protein kinase activity, exocrine pancreas development, positive regulation of cell migration, adrenal gland development, male sex determination, transformation of host cell by virus, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, male gonad development, epidermis development, insulin receptor signaling pathway, insulin receptor signaling pathway, insulin receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, memory, learning, multicellular organism development, G protein-coupled receptor signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, receptor-mediated endocytosis, protein phosphorylation, regulation of transcription, DNA-templated, carbohydrate metabolic process, heart morphogenesis, positive regulation of receptor internalization, positive regulation of protein phosphorylation, activation of MAPK activity, 36 48 27 22 24 21 15 14 33 ENSG00000171109 chr3 179347692 179394931 + MFN1 protein_coding The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]. 55669 GO:0098799, GO:0031307, GO:0031306, GO:0016021, GO:0005741, GO:0005739, outer mitochondrial membrane protein complex, integral component of mitochondrial outer membrane, intrinsic component of mitochondrial outer membrane, integral component of membrane, mitochondrial outer membrane, mitochondrion, GO:0042802, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, identical protein binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:1990613, GO:0051646, GO:0051646, GO:0046039, GO:0016236, GO:0010918, GO:0008053, GO:0008053, GO:0008053, mitochondrial membrane fusion, mitochondrion localization, mitochondrion localization, GTP metabolic process, macroautophagy, positive regulation of mitochondrial membrane potential, mitochondrial fusion, mitochondrial fusion, mitochondrial fusion, 651 615 858 487 658 638 572 549 537 ENSG00000171115 chr7 150450630 150479392 + GIMAP8 protein_coding This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]. 155038 GO:0005829, GO:0005794, GO:0005783, GO:0005739, cytosol, Golgi apparatus, endoplasmic reticulum, mitochondrion, GO:0005525, GTP binding, GO:0070232, regulation of T cell apoptotic process, 45 78 110 87 75 129 98 92 124 ENSG00000171116 chrX 149774068 149776867 + HSFX1 protein_coding 100506164 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:0005515, GO:0003700, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 3 0 ENSG00000171119 chr19 5823802 5828324 + NRTN protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]. 4902 GO:0030424, GO:0005576, axon, extracellular region, GO:0030971, GO:0030116, GO:0008083, GO:0005102, receptor tyrosine kinase binding, glial cell-derived neurotrophic factor receptor binding, growth factor activity, signaling receptor binding, GO:0031175, GO:0021675, GO:0007411, GO:0007399, GO:0007169, GO:0001755, GO:0000165, neuron projection development, nerve development, axon guidance, nervous system development, transmembrane receptor protein tyrosine kinase signaling pathway, neural crest cell migration, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000171121 chr3 179236691 179267002 - KCNMB3 protein_coding MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]. 27094 GO:0008076, GO:0008076, GO:0005887, GO:0005886, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:0015459, GO:0015459, GO:0015269, GO:0015269, potassium channel regulator activity, potassium channel regulator activity, calcium-activated potassium channel activity, calcium-activated potassium channel activity, GO:0071805, GO:0019228, GO:0006813, GO:0005513, GO:0005513, GO:0001508, potassium ion transmembrane transport, neuronal action potential, potassium ion transport, detection of calcium ion, detection of calcium ion, action potential, 66 85 113 80 94 86 51 82 97 ENSG00000171124 chr19 5842888 5851474 - FUT3 protein_coding The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Differences in the expression of this gene are associated with host susceptibility to viral infection. [provided by RefSeq, Aug 2020]. 2525 GO:0070062, GO:0032580, GO:0016021, GO:0016020, GO:0000139, extracellular exosome, Golgi cisterna membrane, integral component of membrane, membrane, Golgi membrane, GO:0046920, GO:0046920, GO:0017083, GO:0017083, GO:0017060, GO:0017060, GO:0017060, GO:0008417, GO:0005515, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity, 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity, 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity, fucosyltransferase activity, protein binding, GO:0043413, GO:0042127, GO:0036065, GO:0036065, GO:0030334, GO:0022409, GO:0009988, GO:0009312, GO:0009311, GO:0006672, GO:0006486, macromolecule glycosylation, regulation of cell population proliferation, fucosylation, fucosylation, regulation of cell migration, positive regulation of cell-cell adhesion, cell-cell recognition, oligosaccharide biosynthetic process, oligosaccharide metabolic process, ceramide metabolic process, protein glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000171126 chr2 42442017 42494097 - KCNG3 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 170850 GO:0016021, GO:0008076, GO:0008076, GO:0005886, GO:0005886, GO:0005783, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0005515, GO:0005251, GO:0005251, GO:0005249, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0051260, GO:0034765, potassium ion transmembrane transport, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000171130 chr7 149872968 149891204 + ATP6V0E2 protein_coding Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]. 155066 GO:0033179, GO:0030670, GO:0016021, GO:0010008, proton-transporting V-type ATPase, V0 domain, phagocytic vesicle membrane, integral component of membrane, endosome membrane, GO:0046961, GO:0042625, GO:0016787, proton-transporting ATPase activity, rotational mechanism, ATPase-coupled ion transmembrane transporter activity, hydrolase activity, GO:1902600, GO:0090383, GO:0055085, GO:0034220, GO:0033572, GO:0016241, GO:0008286, GO:0007035, proton transmembrane transport, phagosome acidification, transmembrane transport, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, vacuolar acidification, 4 9 22 39 16 119 45 28 76 ENSG00000171132 chr2 45651345 46187990 + PRKCE protein_coding Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]. 5581 GO:0071944, GO:0048471, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005794, GO:0005783, GO:0005739, GO:0005737, GO:0005634, cell periphery, perinuclear region of cytoplasm, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum, mitochondrion, cytoplasm, nucleus, GO:0071889, GO:0046872, GO:0035276, GO:0030546, GO:0019899, GO:0019899, GO:0008047, GO:0005524, GO:0005515, GO:0004699, GO:0004698, GO:0004697, GO:0004674, GO:0004674, GO:0003785, 14-3-3 protein binding, metal ion binding, ethanol binding, signaling receptor activator activity, enzyme binding, enzyme binding, enzyme activator activity, ATP binding, protein binding, calcium-independent protein kinase C activity, calcium-dependent protein kinase C activity, protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, actin monomer binding, GO:2001031, GO:2000650, GO:1903078, GO:0090303, GO:0071456, GO:0071380, GO:0071361, GO:0070257, GO:0061178, GO:0051301, GO:0051279, GO:0050996, GO:0050730, GO:0043410, GO:0043278, GO:0043123, GO:0043085, GO:0038096, GO:0035669, GO:0035641, GO:0035556, GO:0032467, GO:0032230, GO:0032024, GO:0031663, GO:0031397, GO:0030838, GO:0030168, GO:0018105, GO:0018105, GO:0010811, GO:0010763, GO:0010634, GO:0007165, GO:0007155, GO:0007049, GO:0006915, GO:0006468, GO:0002281, positive regulation of cellular glucuronidation, negative regulation of sodium ion transmembrane transporter activity, positive regulation of protein localization to plasma membrane, positive regulation of wound healing, cellular response to hypoxia, cellular response to prostaglandin E stimulus, cellular response to ethanol, positive regulation of mucus secretion, regulation of insulin secretion involved in cellular response to glucose stimulus, cell division, regulation of release of sequestered calcium ion into cytosol, positive regulation of lipid catabolic process, regulation of peptidyl-tyrosine phosphorylation, positive regulation of MAPK cascade, response to morphine, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of catalytic activity, Fc-gamma receptor signaling pathway involved in phagocytosis, TRAM-dependent toll-like receptor 4 signaling pathway, locomotory exploration behavior, intracellular signal transduction, positive regulation of cytokinesis, positive regulation of synaptic transmission, GABAergic, positive regulation of insulin secretion, lipopolysaccharide-mediated signaling pathway, negative regulation of protein ubiquitination, positive regulation of actin filament polymerization, platelet activation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, positive regulation of cell-substrate adhesion, positive regulation of fibroblast migration, positive regulation of epithelial cell migration, signal transduction, cell adhesion, cell cycle, apoptotic process, protein phosphorylation, macrophage activation involved in immune response, 53 70 57 45 68 38 55 60 67 ENSG00000171133 chr9 111327483 111330183 - OR2K2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26248 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171135 chr3 9890572 9894349 + JAGN1 protein_coding The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]. 84522 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:1990266, GO:1904577, GO:0061179, GO:0050832, GO:0038158, GO:0030223, GO:0016192, GO:0015031, GO:0007029, GO:0006887, GO:0002446, neutrophil migration, cellular response to tunicamycin, negative regulation of insulin secretion involved in cellular response to glucose stimulus, defense response to fungus, granulocyte colony-stimulating factor signaling pathway, neutrophil differentiation, vesicle-mediated transport, protein transport, endoplasmic reticulum organization, exocytosis, neutrophil mediated immunity, 19 31 37 32 47 28 29 46 39 ENSG00000171136 chr19 14028148 14031042 + RLN3 protein_coding This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. 117579 GO:0005576, extracellular region, GO:0005515, GO:0005179, GO:0001664, protein binding, hormone activity, G protein-coupled receptor binding, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171148 chr3 9779860 9793011 - TADA3 protein_coding DNA-binding transcriptional activator proteins increase the rate of transcription by interacting with the transcriptional machinery bound to the basal promoter in conjunction with adaptor proteins, possibly by acetylation and destabilization of nucleosomes. The protein encoded by this gene is a transcriptional activator adaptor and a component of the histone acetyl transferase (HAT) coactivator complex which plays a crucial role in chromatin modulation and cell cycle progression. Along with the other components of the complex, this protein links transcriptional activators bound to specific promoters, to histone acetylation and the transcriptional machinery. The protein is also involved in the stabilization and activation of the p53 tumor suppressor protein that plays a role in the cellular response to DNA damage. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. 10474 GO:0072686, GO:0033276, GO:0030914, GO:0005671, GO:0005671, GO:0005654, GO:0005654, GO:0005634, GO:0000124, mitotic spindle, transcription factor TFTC complex, STAGA complex, Ada2/Gcn5/Ada3 transcription activator complex, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, nucleoplasm, nucleus, SAGA complex, GO:0030374, GO:0019904, GO:0016922, GO:0005515, GO:0004402, GO:0003713, GO:0003713, nuclear receptor coactivator activity, protein domain specific binding, nuclear receptor binding, protein binding, histone acetyltransferase activity, transcription coactivator activity, transcription coactivator activity, GO:0090043, GO:0045893, GO:0043967, GO:0043966, GO:0043966, GO:0031647, GO:0031063, GO:0030520, GO:0016579, GO:0010628, GO:0006357, GO:0001932, GO:0000278, regulation of tubulin deacetylation, positive regulation of transcription, DNA-templated, histone H4 acetylation, histone H3 acetylation, histone H3 acetylation, regulation of protein stability, regulation of histone deacetylation, intracellular estrogen receptor signaling pathway, protein deubiquitination, positive regulation of gene expression, regulation of transcription by RNA polymerase II, regulation of protein phosphorylation, mitotic cell cycle, 754 648 843 324 496 566 394 465 394 ENSG00000171150 chr2 46698952 46780245 + SOCS5 protein_coding The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008]. 9655 GO:0005942, GO:0005829, phosphatidylinositol 3-kinase complex, cytosol, GO:0046935, GO:0030971, GO:0005515, GO:0005154, 1-phosphatidylinositol-3-kinase regulator activity, receptor tyrosine kinase binding, protein binding, epidermal growth factor receptor binding, GO:0097699, GO:0071638, GO:0071404, GO:0050728, GO:0046854, GO:0045629, GO:0045627, GO:0043687, GO:0043551, GO:0040008, GO:0035556, GO:0032715, GO:0032436, GO:0019221, GO:0019221, GO:0016567, GO:0009968, GO:0007259, GO:0007175, GO:0007173, vascular endothelial cell response to fluid shear stress, negative regulation of monocyte chemotactic protein-1 production, cellular response to low-density lipoprotein particle stimulus, negative regulation of inflammatory response, phosphatidylinositol phosphorylation, negative regulation of T-helper 2 cell differentiation, positive regulation of T-helper 1 cell differentiation, post-translational protein modification, regulation of phosphatidylinositol 3-kinase activity, regulation of growth, intracellular signal transduction, negative regulation of interleukin-6 production, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, protein ubiquitination, negative regulation of signal transduction, receptor signaling pathway via JAK-STAT, negative regulation of epidermal growth factor-activated receptor activity, epidermal growth factor receptor signaling pathway, 106 110 147 84 130 160 96 98 123 ENSG00000171155 chrX 120625793 120630150 - C1GALT1C1 protein_coding This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]. 29071 GO:0070062, GO:0016021, GO:0000139, extracellular exosome, integral component of membrane, Golgi membrane, GO:0016263, GO:0005515, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity, protein binding, GO:0036344, GO:0030168, GO:0016267, GO:0016266, GO:0006493, platelet morphogenesis, platelet activation, O-glycan processing, core 1, O-glycan processing, protein O-linked glycosylation, 205 165 178 68 140 66 81 95 89 ENSG00000171159 chr9 128160260 128163928 + C9orf16 protein_coding 79095 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 154 154 190 116 185 177 109 179 136 ENSG00000171160 chr10 97614553 97633500 - MORN4 protein_coding 118812 GO:0032433, GO:0032426, GO:0005737, filopodium tip, stereocilium tip, cytoplasm, GO:0005515, protein binding, GO:0048678, response to axon injury, 1 0 0 0 0 0 0 1 1 ENSG00000171161 chr1 248838210 248849517 + ZNF672 protein_coding 79894 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0043565, GO:0005515, GO:0000981, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 1019 1032 1144 524 599 598 650 528 481 ENSG00000171163 chr1 248850006 248859144 - ZNF692 protein_coding 55657 GO:0005730, GO:0005654, GO:0000785, nucleolus, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0001227, GO:0000978, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 216 209 244 355 389 341 321 241 291 ENSG00000171169 chr9 128061233 128068206 - NAIF1 protein_coding 203245 GO:0005886, GO:0005829, GO:0005739, GO:0005654, GO:0005634, GO:0005634, plasma membrane, cytosol, mitochondrion, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1902108, GO:0030308, regulation of mitochondrial membrane permeability involved in apoptotic process, negative regulation of cell growth, 227 243 277 138 178 173 158 129 160 ENSG00000171174 chr2 27781364 27891098 - RBKS protein_coding This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 64080 GO:0005829, GO:0005634, cytosol, nucleus, GO:0046872, GO:0042802, GO:0005524, GO:0005515, GO:0004747, metal ion binding, identical protein binding, ATP binding, protein binding, ribokinase activity, GO:0046835, GO:0019303, GO:0006098, carbohydrate phosphorylation, D-ribose catabolic process, pentose-phosphate shunt, 133 342 178 6709 10159 9967 4380 7956 6926 ENSG00000171180 chr1 248231417 248244679 + OR2M4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26245 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171189 chr21 29536933 29940033 - GRIK1 protein_coding Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]. 2897 GO:0045211, GO:0005887, GO:0005886, GO:0005886, postsynaptic membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1904315, GO:0038023, GO:0015277, GO:0015276, GO:0008066, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, signaling receptor activity, kainate selective glutamate receptor activity, ligand-gated ion channel activity, glutamate receptor activity, GO:0060078, GO:0051966, GO:0050804, GO:0035249, GO:0035235, GO:0034220, GO:0007417, GO:0007399, GO:0007268, GO:0007215, regulation of postsynaptic membrane potential, regulation of synaptic transmission, glutamatergic, modulation of chemical synaptic transmission, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, ion transmembrane transport, central nervous system development, nervous system development, chemical synaptic transmission, glutamate receptor signaling pathway, 8 14 7 14 29 16 19 15 9 ENSG00000171195 chr4 70430492 70482997 + MUC7 protein_coding This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]. 4589 GO:0070062, GO:0005886, GO:0005796, extracellular exosome, plasma membrane, Golgi lumen, GO:0005515, protein binding, GO:0061844, GO:0031640, GO:0016266, GO:0002223, antimicrobial humoral immune response mediated by antimicrobial peptide, killing of cells of other organism, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171199 chr4 70397882 70410194 + OPRPN protein_coding This gene encodes a member of the proline-rich protein family. The encoded protein has multiple proposed functions, including roles in pain suppression, penile erection, and protection of the eye surface. The QRFSR pentapeptide, known as opiorphin, is derived from the N-terminal of this protein. Opiorphin inhibits the enkephalin-inactivating peptidases neprilysin and aminopeptidase N, and this activity is thought to reduce sensitivity to painful stimuli by effecting enkephalin-related activation of opioid-dependent pathways. Opiorphin may also act as an anti-depressant. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 58503 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0030414, GO:0004866, GO:0004866, peptidase inhibitor activity, endopeptidase inhibitor activity, endopeptidase inhibitor activity, GO:0051930, GO:0051930, GO:0010951, GO:0001895, regulation of sensory perception of pain, regulation of sensory perception of pain, negative regulation of endopeptidase activity, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000171201 chr4 70370093 70390244 + SMR3B protein_coding 10879 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0005515, GO:0004866, GO:0003674, protein binding, endopeptidase inhibitor activity, molecular_function, GO:0051930, GO:0010951, GO:0008150, regulation of sensory perception of pain, negative regulation of endopeptidase activity, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000171202 chr11 85647967 85656547 + TMEM126A protein_coding The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 84233 GO:0016021, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003674, molecular_function, GO:0032981, GO:0021554, mitochondrial respiratory chain complex I assembly, optic nerve development, 10 8 16 26 14 41 13 13 6 ENSG00000171204 chr11 85628573 85636539 + TMEM126B protein_coding This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]. 55863 GO:0016021, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0032981, GO:0032981, GO:0032981, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, 68 62 67 59 52 83 51 54 55 ENSG00000171206 chr10 102642310 102660680 + TRIM8 protein_coding This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]. 81603 GO:0016605, GO:0005829, PML body, cytosol, GO:0042803, GO:0042802, GO:0016740, GO:0008270, GO:0005515, protein homodimerization activity, identical protein binding, transferase activity, zinc ion binding, protein binding, GO:1902187, GO:1900182, GO:0060333, GO:0051092, GO:0051091, GO:0046597, GO:0045087, GO:0043123, GO:0032897, GO:0019827, GO:0016567, GO:0010508, negative regulation of viral release from host cell, positive regulation of protein localization to nucleus, interferon-gamma-mediated signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, negative regulation of viral entry into host cell, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of viral transcription, stem cell population maintenance, protein ubiquitination, positive regulation of autophagy, 1718 2131 2478 1024 2051 1769 1366 1789 1580 ENSG00000171208 chr16 47077703 47143997 - NETO2 protein_coding This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 81831 GO:0016021, GO:0014069, integral component of membrane, postsynaptic density, GO:0035255, ionotropic glutamate receptor binding, GO:2000312, regulation of kainate selective glutamate receptor activity, 4 3 11 2 9 6 22 7 11 ENSG00000171209 chr4 70242588 70251428 + CSN3 protein_coding 1448 GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0055085, GO:0050821, GO:0050821, GO:0007595, GO:0007595, transmembrane transport, protein stabilization, protein stabilization, lactation, lactation, 0 0 0 0 0 0 0 0 0 ENSG00000171217 chr6 155264013 155276548 + CLDN20 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010]. 49861 GO:0070160, GO:0016021, GO:0005923, GO:0005923, GO:0005886, tight junction, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:0070830, GO:0016338, GO:0007155, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 0 3 0 9 0 11 4 0 2 ENSG00000171219 chr11 64823387 64844569 - CDC42BPG protein_coding 55561 GO:0034451, GO:0031252, GO:0005856, GO:0005829, GO:0005737, centriolar satellite, cell leading edge, cytoskeleton, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0031532, GO:0031032, GO:0018107, GO:0006468, GO:0006468, intracellular signal transduction, actin cytoskeleton reorganization, actomyosin structure organization, peptidyl-threonine phosphorylation, protein phosphorylation, protein phosphorylation, 84 52 71 131 105 165 142 55 94 ENSG00000171222 chr20 35953617 35959472 - SCAND1 protein_coding This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]. 51282 GO:0005634, nucleus, GO:0005515, protein binding, GO:0045893, positive regulation of transcription, DNA-templated, 196 159 209 115 165 120 143 149 138 ENSG00000171223 chr19 12791496 12793315 + JUNB protein_coding 3726 GO:0035976, GO:0005667, GO:0005654, GO:0005654, GO:0000785, GO:0000785, GO:0000785, transcription factor AP-1 complex, transcription regulator complex, nucleoplasm, nucleoplasm, chromatin, chromatin, chromatin, GO:1990837, GO:0008134, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, transcription factor binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071277, GO:0060716, GO:0060136, GO:0051726, GO:0046697, GO:0045944, GO:0045944, GO:0045597, GO:0042127, GO:0033687, GO:0030316, GO:0019221, GO:0006357, GO:0001829, GO:0001649, GO:0001570, cellular response to calcium ion, labyrinthine layer blood vessel development, embryonic process involved in female pregnancy, regulation of cell cycle, decidualization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of cell differentiation, regulation of cell population proliferation, osteoblast proliferation, osteoclast differentiation, cytokine-mediated signaling pathway, regulation of transcription by RNA polymerase II, trophectodermal cell differentiation, osteoblast differentiation, vasculogenesis, 6616 8590 13003 56805 116179 128382 85624 128431 132160 ENSG00000171224 chr10 69630251 69633599 + FAM241B protein_coding 219738 GO:0043231, GO:0016021, intracellular membrane-bounded organelle, integral component of membrane, GO:0005515, protein binding, 0 0 0 5 3 7 0 0 5 ENSG00000171227 chr2 119429901 119438520 + TMEM37 protein_coding 140738 GO:0016021, integral component of membrane, GO:0005262, GO:0005244, calcium channel activity, voltage-gated ion channel activity, GO:0070588, GO:0034765, calcium ion transmembrane transport, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000171234 chr4 69051363 69112987 + UGT2B7 protein_coding The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]. 7364 GO:0043231, GO:0016021, GO:0016020, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0015020, GO:0008194, GO:0001972, glucuronosyltransferase activity, UDP-glycosyltransferase activity, retinoic acid binding, GO:0052695, GO:0008209, GO:0006629, cellular glucuronidation, androgen metabolic process, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000171236 chr19 4536409 4540474 - LRG1 protein_coding The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008]. 116844 GO:1904813, GO:1904724, GO:0070062, GO:0043231, GO:0035580, GO:0016020, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, intracellular membrane-bounded organelle, specific granule lumen, membrane, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0005515, GO:0005160, GO:0003674, protein binding, transforming growth factor beta receptor binding, molecular_function, GO:0050873, GO:0045766, GO:0043312, GO:0030511, GO:0009617, GO:0008150, GO:0001938, brown fat cell differentiation, positive regulation of angiogenesis, neutrophil degranulation, positive regulation of transforming growth factor beta receptor signaling pathway, response to bacterium, biological_process, positive regulation of endothelial cell proliferation, 2832 1821 4356 652 1268 1556 1031 1291 1572 ENSG00000171241 chr16 46580554 46621626 - SHCBP1 protein_coding 79801 GO:0030496, GO:0005819, GO:0005737, midbody, spindle, cytoplasm, GO:0005515, protein binding, GO:2000177, GO:0008543, GO:0008543, regulation of neural precursor cell proliferation, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, 3 0 4 12 8 2 8 9 2 ENSG00000171243 chr7 16461481 16530580 - SOSTDC1 protein_coding This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]. 25928 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0098821, GO:0036122, GO:0036122, BMP receptor activity, BMP binding, BMP binding, GO:2000016, GO:0090090, GO:0060648, GO:0045662, GO:0042475, GO:0031069, GO:0030514, GO:0030514, GO:0030509, GO:0030178, GO:0030178, GO:0016055, GO:0010454, GO:0007389, negative regulation of determination of dorsal identity, negative regulation of canonical Wnt signaling pathway, mammary gland bud morphogenesis, negative regulation of myoblast differentiation, odontogenesis of dentin-containing tooth, hair follicle morphogenesis, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, BMP signaling pathway, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, Wnt signaling pathway, negative regulation of cell fate commitment, pattern specification process, 0 0 0 0 0 0 0 0 0 ENSG00000171246 chr17 80467148 80477843 - NPTX1 protein_coding NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]. 4884 GO:0098978, GO:0098978, GO:0043005, GO:0030133, GO:0005886, glutamatergic synapse, glutamatergic synapse, neuron projection, transport vesicle, plasma membrane, GO:0046872, metal ion binding, GO:0098962, GO:0098962, GO:0060385, GO:0007417, GO:0007268, regulation of postsynaptic neurotransmitter receptor activity, regulation of postsynaptic neurotransmitter receptor activity, axonogenesis involved in innervation, central nervous system development, chemical synaptic transmission, 0 0 4 5 0 0 2 0 0 ENSG00000171262 chr15 38454127 38487710 + FAM98B protein_coding 283742 GO:0072669, GO:0072669, GO:0043231, GO:0005737, GO:0005654, GO:0005654, GO:0005634, tRNA-splicing ligase complex, tRNA-splicing ligase complex, intracellular membrane-bounded organelle, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0042802, GO:0008276, GO:0005515, GO:0003723, identical protein binding, protein methyltransferase activity, protein binding, RNA binding, GO:0010628, GO:0008284, GO:0006479, GO:0006388, positive regulation of gene expression, positive regulation of cell population proliferation, protein methylation, tRNA splicing, via endonucleolytic cleavage and ligation, 34 20 57 47 16 49 45 19 28 ENSG00000171291 chr19 11848726 11883750 + ZNF439 protein_coding 90594 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 42 33 76 87 56 41 70 39 39 ENSG00000171295 chr19 11814284 11835201 + ZNF440 protein_coding 126070 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 105 97 102 117 82 132 130 56 103 ENSG00000171298 chr17 80101556 80119879 + GAA protein_coding This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 2548 GO:0101003, GO:0070821, GO:0070062, GO:0043202, GO:0035577, GO:0016020, GO:0005886, GO:0005765, GO:0005764, ficolin-1-rich granule membrane, tertiary granule membrane, extracellular exosome, lysosomal lumen, azurophil granule membrane, membrane, plasma membrane, lysosomal membrane, lysosome, GO:0032450, GO:0030246, GO:0004558, GO:0004558, GO:0004553, maltose alpha-glucosidase activity, carbohydrate binding, alpha-1,4-glucosidase activity, alpha-1,4-glucosidase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0060048, GO:0050885, GO:0050884, GO:0046716, GO:0043312, GO:0043181, GO:0009888, GO:0007626, GO:0007040, GO:0007040, GO:0006006, GO:0005985, GO:0005980, GO:0005980, GO:0005980, GO:0003007, GO:0002086, GO:0002026, GO:0000023, cardiac muscle contraction, neuromuscular process controlling balance, neuromuscular process controlling posture, muscle cell cellular homeostasis, neutrophil degranulation, vacuolar sequestering, tissue development, locomotory behavior, lysosome organization, lysosome organization, glucose metabolic process, sucrose metabolic process, glycogen catabolic process, glycogen catabolic process, glycogen catabolic process, heart morphogenesis, diaphragm contraction, regulation of the force of heart contraction, maltose metabolic process, 1500 2060 1893 786 1554 1022 1049 1242 1044 ENSG00000171302 chr17 78991717 79009867 - CANT1 protein_coding This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]. 124583 GO:1904813, GO:1904724, GO:0070062, GO:0035580, GO:0032580, GO:0016021, GO:0016020, GO:0005886, GO:0005789, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, extracellular exosome, specific granule lumen, Golgi cisterna membrane, integral component of membrane, membrane, plasma membrane, endoplasmic reticulum membrane, extracellular region, GO:0045134, GO:0043262, GO:0042803, GO:0005515, GO:0005509, GO:0004382, GO:0004382, uridine-diphosphatase activity, adenosine-diphosphatase activity, protein homodimerization activity, protein binding, calcium ion binding, guanosine-diphosphatase activity, guanosine-diphosphatase activity, GO:0043312, GO:0043123, GO:0030166, GO:0030166, neutrophil degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, proteoglycan biosynthetic process, proteoglycan biosynthetic process, 2364 2292 2738 868 1225 1053 1021 976 860 ENSG00000171303 chr2 26692690 26733420 + KCNK3 protein_coding This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]. 3777 GO:0045202, GO:0005887, GO:0005886, GO:0005886, synapse, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0044548, GO:0022841, GO:0022841, GO:0008022, GO:0005267, GO:0005252, GO:0005216, S100 protein binding, potassium ion leak channel activity, potassium ion leak channel activity, protein C-terminus binding, potassium channel activity, open rectifier potassium channel activity, ion channel activity, GO:0090102, GO:0071805, GO:0071456, GO:0071294, GO:0061337, GO:0051481, GO:0042493, GO:0034220, GO:0030322, GO:0007420, GO:0007268, GO:0006813, cochlea development, potassium ion transmembrane transport, cellular response to hypoxia, cellular response to zinc ion, cardiac conduction, negative regulation of cytosolic calcium ion concentration, response to drug, ion transmembrane transport, stabilization of membrane potential, brain development, chemical synaptic transmission, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000171307 chr10 97446131 97457370 + ZDHHC16 protein_coding 84287 GO:0016021, GO:0005794, GO:0005789, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, GO:0019706, GO:0016409, GO:0016409, GO:0005515, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, palmitoyltransferase activity, protein binding, GO:0021537, GO:0018345, GO:0018345, GO:0007507, GO:0006974, GO:0006915, GO:0001654, telencephalon development, protein palmitoylation, protein palmitoylation, heart development, cellular response to DNA damage stimulus, apoptotic process, eye development, 18 21 21 31 38 27 50 23 32 ENSG00000171310 chr12 104455295 104762014 + CHST11 protein_coding The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 50515 GO:0016021, GO:0016020, GO:0000139, integral component of membrane, membrane, Golgi membrane, GO:0050659, GO:0047756, GO:0008146, GO:0001537, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity, chondroitin 4-sulfotransferase activity, sulfotransferase activity, N-acetylgalactosamine 4-O-sulfotransferase activity, GO:0048703, GO:0048589, GO:0043066, GO:0042733, GO:0042127, GO:0036342, GO:0033037, GO:0030512, GO:0030206, GO:0030206, GO:0030166, GO:0016051, GO:0009791, GO:0007585, GO:0002063, embryonic viscerocranium morphogenesis, developmental growth, negative regulation of apoptotic process, embryonic digit morphogenesis, regulation of cell population proliferation, post-anal tail morphogenesis, polysaccharide localization, negative regulation of transforming growth factor beta receptor signaling pathway, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, proteoglycan biosynthetic process, carbohydrate biosynthetic process, post-embryonic development, respiratory gaseous exchange by respiratory system, chondrocyte development, 3293 3415 4269 916 1718 1400 1202 1681 1380 ENSG00000171311 chr10 97436142 97446017 - EXOSC1 protein_coding This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 51013 GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0000178, GO:0000178, GO:0000176, cytosol, cytoplasm, nucleolus, nucleoplasm, exosome (RNase complex), exosome (RNase complex), nuclear exosome (RNase complex), GO:0005515, GO:0004532, GO:0003723, protein binding, exoribonuclease activity, RNA binding, GO:0090503, GO:0043928, GO:0043488, GO:0006364, RNA phosphodiester bond hydrolysis, exonucleolytic, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, rRNA processing, 49 52 48 65 54 72 39 56 52 ENSG00000171314 chr10 97426160 97433441 + PGAM1 protein_coding The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. 5223 GO:1904813, GO:0070062, GO:0034774, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, membrane, cytosol, cytosol, cytoplasm, nucleus, extracellular region, GO:0019901, GO:0016787, GO:0005515, GO:0004619, GO:0004619, GO:0004619, GO:0004082, protein kinase binding, hydrolase activity, protein binding, phosphoglycerate mutase activity, phosphoglycerate mutase activity, phosphoglycerate mutase activity, bisphosphoglycerate mutase activity, GO:0061621, GO:0045730, GO:0043456, GO:0043312, GO:0006110, GO:0006096, GO:0006094, canonical glycolysis, respiratory burst, regulation of pentose-phosphate shunt, neutrophil degranulation, regulation of glycolytic process, glycolytic process, gluconeogenesis, 1244 1006 1120 240 545 391 358 545 321 ENSG00000171316 chr8 60678778 60868028 + CHD7 protein_coding This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 55636 GO:0005730, GO:0005654, GO:0005634, GO:0005634, nucleolus, nucleoplasm, nucleus, nucleus, GO:1990841, GO:0005524, GO:0005515, GO:0003682, GO:0003678, GO:0000978, promoter-specific chromatin binding, ATP binding, protein binding, chromatin binding, DNA helicase activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0062009, GO:0060429, GO:0060411, GO:0060384, GO:0060324, GO:0060173, GO:0060123, GO:0060041, GO:0050890, GO:0050767, GO:0048806, GO:0048752, GO:0045944, GO:0043584, GO:0042472, GO:0042048, GO:0040018, GO:0036302, GO:0035909, GO:0035116, GO:0032508, GO:0030540, GO:0030217, GO:0021772, GO:0021553, GO:0021545, GO:0010880, GO:0009617, GO:0008015, GO:0007628, GO:0007605, GO:0007512, GO:0007417, GO:0006364, GO:0006355, GO:0006338, GO:0003226, GO:0003222, GO:0003007, GO:0001974, GO:0001701, GO:0001501, secondary palate development, epithelium development, cardiac septum morphogenesis, innervation, face development, limb development, regulation of growth hormone secretion, retina development in camera-type eye, cognition, regulation of neurogenesis, genitalia development, semicircular canal morphogenesis, positive regulation of transcription by RNA polymerase II, nose development, inner ear morphogenesis, olfactory behavior, positive regulation of multicellular organism growth, atrioventricular canal development, aorta morphogenesis, embryonic hindlimb morphogenesis, DNA duplex unwinding, female genitalia development, T cell differentiation, olfactory bulb development, olfactory nerve development, cranial nerve development, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, response to bacterium, blood circulation, adult walking behavior, sensory perception of sound, adult heart development, central nervous system development, rRNA processing, regulation of transcription, DNA-templated, chromatin remodeling, right ventricular compact myocardium morphogenesis, ventricular trabecula myocardium morphogenesis, heart morphogenesis, blood vessel remodeling, in utero embryonic development, skeletal system development, 1177 1640 1705 656 1196 1141 709 807 801 ENSG00000171320 chr8 27771949 27812640 + ESCO2 protein_coding This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]. 157570 GO:0035861, GO:0030054, GO:0010369, GO:0005794, GO:0005721, GO:0005694, GO:0005654, GO:0005654, GO:0001741, GO:0000785, site of double-strand break, cell junction, chromocenter, Golgi apparatus, pericentric heterochromatin, chromosome, nucleoplasm, nucleoplasm, XY body, chromatin, GO:0046872, GO:0016407, GO:0005515, GO:0004468, metal ion binding, acetyltransferase activity, protein binding, lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, GO:0071168, GO:0034421, GO:0034421, GO:0007062, GO:0006302, GO:0006275, GO:0006275, GO:0002244, protein localization to chromatin, post-translational protein acetylation, post-translational protein acetylation, sister chromatid cohesion, double-strand break repair, regulation of DNA replication, regulation of DNA replication, hematopoietic progenitor cell differentiation, 2 0 1 1 0 0 4 2 4 ENSG00000171345 chr17 41523617 41528308 - KRT19 protein_coding The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]. 3880 GO:1990357, GO:0071944, GO:0070062, GO:0043034, GO:0042383, GO:0030018, GO:0016327, GO:0016010, GO:0005886, GO:0005882, GO:0005829, terminal web, cell periphery, extracellular exosome, costamere, sarcolemma, Z disc, apicolateral plasma membrane, dystrophin-associated glycoprotein complex, plasma membrane, intermediate filament, cytosol, GO:0044877, GO:0008307, GO:0005515, GO:0005200, protein-containing complex binding, structural constituent of muscle, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0060706, GO:0045214, GO:0043627, GO:0031424, GO:0016032, GO:0007219, cornification, cell differentiation involved in embryonic placenta development, sarcomere organization, response to estrogen, keratinization, viral process, Notch signaling pathway, 0 1 0 1 0 0 0 0 0 ENSG00000171346 chr17 41513743 41522529 - KRT15 protein_coding The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. [provided by RefSeq, Jul 2008]. 3866 GO:0070062, GO:0005882, GO:0005829, GO:0005634, extracellular exosome, intermediate filament, cytosol, nucleus, GO:0097110, GO:0005515, GO:0005200, scaffold protein binding, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0031424, GO:0008544, GO:0007010, cornification, keratinization, epidermis development, cytoskeleton organization, 0 2 1 0 3 0 0 0 0 ENSG00000171357 chr1 46203334 46221261 + LURAP1 protein_coding 541468 GO:0043231, GO:0042641, GO:0005829, GO:0005737, intracellular membrane-bounded organelle, actomyosin, cytosol, cytoplasm, GO:0005515, protein binding, GO:0043123, GO:0031032, GO:0016477, GO:0001819, positive regulation of I-kappaB kinase/NF-kappaB signaling, actomyosin structure organization, cell migration, positive regulation of cytokine production, 0 0 0 0 0 0 2 0 3 ENSG00000171360 chr17 41436446 41440921 - KRT38 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. 8687 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000171365 chrX 49922615 50099235 + CLCN5 protein_coding This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]. 1184 GO:0045177, GO:0016020, GO:0016020, GO:0010008, GO:0008021, GO:0005887, GO:0005886, GO:0005829, GO:0005794, GO:0005794, GO:0005769, GO:0005765, GO:0000139, apical part of cell, membrane, membrane, endosome membrane, synaptic vesicle, integral component of plasma membrane, plasma membrane, cytosol, Golgi apparatus, Golgi apparatus, early endosome, lysosomal membrane, Golgi membrane, GO:0042802, GO:0015299, GO:0005524, GO:0005515, GO:0005254, GO:0005247, identical protein binding, solute:proton antiporter activity, ATP binding, protein binding, chloride channel activity, voltage-gated chloride channel activity, GO:1902600, GO:1902476, GO:0034220, GO:0007588, proton transmembrane transport, chloride transmembrane transport, ion transmembrane transport, excretion, 11 13 28 19 32 31 32 25 32 ENSG00000171368 chr5 659862 693395 - TPPP protein_coding 11076 GO:0150051, GO:0097427, GO:0072686, GO:0048471, GO:0005874, GO:0005874, GO:0005829, GO:0005739, GO:0005737, GO:0005634, postsynaptic Golgi apparatus, microtubule bundle, mitotic spindle, perinuclear region of cytoplasm, microtubule, microtubule, cytosol, mitochondrion, cytoplasm, nucleus, GO:0042803, GO:0015631, GO:0015631, GO:0015631, GO:0008017, GO:0005515, GO:0003924, GO:0000287, protein homodimerization activity, tubulin binding, tubulin binding, tubulin binding, microtubule binding, protein binding, GTPase activity, magnesium ion binding, GO:1904428, GO:0070507, GO:0051418, GO:0051301, GO:0048709, GO:0046785, GO:0046785, GO:0046785, GO:0032288, GO:0032273, GO:0032273, GO:0031643, GO:0031334, GO:0030953, GO:0014003, GO:0001578, GO:0001578, GO:0001578, negative regulation of tubulin deacetylation, regulation of microtubule cytoskeleton organization, microtubule nucleation by microtubule organizing center, cell division, oligodendrocyte differentiation, microtubule polymerization, microtubule polymerization, microtubule polymerization, myelin assembly, positive regulation of protein polymerization, positive regulation of protein polymerization, positive regulation of myelination, positive regulation of protein-containing complex assembly, astral microtubule organization, oligodendrocyte development, microtubule bundle formation, microtubule bundle formation, microtubule bundle formation, 93 89 101 32 46 15 53 36 29 ENSG00000171385 chr1 111770662 111989155 - KCND3 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]. 3752 GO:0045211, GO:0043197, GO:0043025, GO:0042383, GO:0016021, GO:0014069, GO:0008076, GO:0008076, GO:0005886, postsynaptic membrane, dendritic spine, neuronal cell body, sarcolemma, integral component of membrane, postsynaptic density, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, GO:1902282, GO:0086008, GO:0046872, GO:0044325, GO:0005515, GO:0005250, GO:0005249, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization, metal ion binding, ion channel binding, protein binding, A-type (transient outward) potassium channel activity, voltage-gated potassium channel activity, GO:0099625, GO:0098915, GO:0097623, GO:0097623, GO:0097623, GO:0086091, GO:0086013, GO:0086009, GO:0071805, GO:0061337, GO:0051260, GO:0034765, GO:0006813, ventricular cardiac muscle cell membrane repolarization, membrane repolarization during ventricular cardiac muscle cell action potential, potassium ion export across plasma membrane, potassium ion export across plasma membrane, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, membrane repolarization during cardiac muscle cell action potential, membrane repolarization, potassium ion transmembrane transport, cardiac conduction, protein homooligomerization, regulation of ion transmembrane transport, potassium ion transport, 0 2 0 0 0 0 1 3 0 ENSG00000171388 chrX 129645259 129654937 - APLN protein_coding This gene encodes a peptide that functions as an endogenous ligand for the G-protein coupled apelin receptor. The encoded preproprotein is proteolytically processed into biologically active C-terminal peptide fragments. These peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1. [provided by RefSeq, Feb 2016]. 8862 GO:0048471, GO:0005615, GO:0005576, GO:0005576, perinuclear region of cytoplasm, extracellular space, extracellular region, extracellular region, GO:0042802, GO:0031704, GO:0005179, GO:0005102, identical protein binding, apelin receptor binding, hormone activity, signaling receptor binding, GO:1905564, GO:1904706, GO:1904022, GO:1902895, GO:0060976, GO:0060183, GO:0060183, GO:0051466, GO:0051461, GO:0045906, GO:0045823, GO:0045776, GO:0043576, GO:0042756, GO:0042327, GO:0040037, GO:0031652, GO:0016032, GO:0010629, GO:0007595, GO:0007369, GO:0007186, GO:0007165, GO:0006955, GO:0002026, GO:0001525, positive regulation of vascular endothelial cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of G protein-coupled receptor internalization, positive regulation of pri-miRNA transcription by RNA polymerase II, coronary vasculature development, apelin receptor signaling pathway, apelin receptor signaling pathway, positive regulation of corticotropin-releasing hormone secretion, positive regulation of corticotropin secretion, negative regulation of vasoconstriction, positive regulation of heart contraction, negative regulation of blood pressure, regulation of respiratory gaseous exchange, drinking behavior, positive regulation of phosphorylation, negative regulation of fibroblast growth factor receptor signaling pathway, positive regulation of heat generation, viral process, negative regulation of gene expression, lactation, gastrulation, G protein-coupled receptor signaling pathway, signal transduction, immune response, regulation of the force of heart contraction, angiogenesis, 1 0 0 0 0 0 0 0 0 ENSG00000171396 chr17 41159651 41160731 - KRTAP4-4 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 84616 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000171401 chr17 41500981 41505705 - KRT13 protein_coding The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008]. 3860 GO:0070062, GO:0045111, GO:0045095, GO:0005829, GO:0005634, extracellular exosome, intermediate filament cytoskeleton, keratin filament, cytosol, nucleus, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, GO:0007010, cornification, keratinization, cytoskeleton organization, 3 10 3 2 5 5 0 2 0 ENSG00000171402 chrX 52862525 52868068 - XAGE3 protein_coding This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. [provided by RefSeq, Jul 2008]. 170626 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000171403 chr17 41565841 41572058 - KRT9 protein_coding This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]. 3857 GO:0070062, GO:0016020, GO:0005882, GO:0005829, GO:0005634, GO:0005615, extracellular exosome, membrane, intermediate filament, cytosol, nucleus, extracellular space, GO:0005200, structural constituent of cytoskeleton, GO:0070268, GO:0045109, GO:0043588, GO:0031424, GO:0008544, GO:0007283, cornification, intermediate filament organization, skin development, keratinization, epidermis development, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000171405 chrX 52812204 52818301 + XAGE5 protein_coding This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008]. 170627 0 0 0 0 0 0 0 0 0 ENSG00000171408 chr6 135851696 136195574 + PDE7B protein_coding The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]. 27115 GO:0045202, GO:0005829, synapse, cytosol, GO:0046872, GO:0004115, GO:0004114, metal ion binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0019933, GO:0007268, GO:0007186, GO:0007165, GO:0006198, cAMP-mediated signaling, chemical synaptic transmission, G protein-coupled receptor signaling pathway, signal transduction, cAMP catabolic process, 0 1 0 2 3 1 0 2 0 ENSG00000171421 chr5 1798386 1801366 - MRPL36 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq, Jul 2008]. 64979 GO:0016604, GO:0005762, GO:0005762, GO:0005762, GO:0005743, GO:0005739, nuclear body, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, protein binding, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0042254, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, ribosome biogenesis, translation, 10 9 8 16 16 17 10 13 10 ENSG00000171425 chr19 55635459 55645622 + ZNF581 protein_coding 51545 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 42 29 61 35 32 67 20 30 52 ENSG00000171428 chr8 18170477 18223689 + NAT1 protein_coding This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 9 GO:0005829, cytosol, GO:0004060, GO:0004060, arylamine N-acetyltransferase activity, arylamine N-acetyltransferase activity, GO:0006805, xenobiotic metabolic process, 51 84 148 41 81 60 49 53 36 ENSG00000171431 chr17 40875941 40885227 - KRT20 protein_coding The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]. 54474 GO:0005882, GO:0005829, GO:0005829, GO:0005737, intermediate filament, cytosol, cytosol, cytoplasm, GO:0005515, GO:0005200, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0050708, GO:0045109, GO:0031424, GO:0009267, GO:0006915, cornification, regulation of protein secretion, intermediate filament organization, keratinization, cellular response to starvation, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000171433 chrX 48761750 48773648 + GLOD5 protein_coding This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011]. 392465 0 0 0 0 0 0 0 0 0 ENSG00000171435 chr12 117453012 117968983 - KSR2 protein_coding 283455 GO:0005886, GO:0005829, GO:0005737, plasma membrane, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004672, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein kinase activity, GO:0120162, GO:0019722, GO:0007265, GO:0007165, GO:0006468, positive regulation of cold-induced thermogenesis, calcium-mediated signaling, Ras protein signal transduction, signal transduction, protein phosphorylation, 0 0 1 3 0 0 0 0 0 ENSG00000171443 chr19 55600022 55603138 + ZNF524 protein_coding 147807 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 62 74 59 52 82 68 38 69 28 ENSG00000171444 chr5 113022099 113488830 - MCC protein_coding This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 4163 GO:0036464, GO:0030027, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytoplasmic ribonucleoprotein granule, lamellipodium, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0090090, GO:0090090, GO:0050680, GO:0045184, GO:0016055, GO:0010633, GO:0007165, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of epithelial cell proliferation, establishment of protein localization, Wnt signaling pathway, negative regulation of epithelial cell migration, signal transduction, 46 35 83 40 129 94 46 60 87 ENSG00000171446 chr17 40776808 40782534 - KRT27 protein_coding This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]. 342574 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0005515, GO:0005198, GO:0003674, protein binding, structural molecule activity, molecular_function, GO:0070268, GO:0031424, GO:0008150, cornification, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000171448 chr9 122915566 122931500 - ZBTB26 protein_coding 57684 GO:0005654, GO:0005575, nucleoplasm, cellular_component, GO:1990837, GO:0046872, GO:0042802, GO:0005515, GO:0001227, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, identical protein binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0000122, biological_process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 110 141 218 46 78 80 86 84 92 ENSG00000171450 chr2 218959655 218962162 + CDK5R2 protein_coding The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]. 8941 GO:0043005, GO:0030426, GO:0016533, GO:0016020, GO:0005886, GO:0005737, neuron projection, growth cone, protein kinase 5 complex, membrane, plasma membrane, cytoplasm, GO:0061575, GO:0061575, GO:0008289, GO:0003779, cyclin-dependent protein serine/threonine kinase activator activity, cyclin-dependent protein serine/threonine kinase activator activity, lipid binding, actin binding, GO:0045956, GO:0045737, GO:0021819, GO:0021766, GO:0021722, GO:0001764, GO:0000079, positive regulation of calcium ion-dependent exocytosis, positive regulation of cyclin-dependent protein serine/threonine kinase activity, layer formation in cerebral cortex, hippocampus development, superior olivary nucleus maturation, neuron migration, regulation of cyclin-dependent protein serine/threonine kinase activity, 0 0 0 0 0 0 0 0 0 ENSG00000171451 chr18 67506582 67516980 - DSEL protein_coding 92126 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0047757, GO:0008146, chondroitin-glucuronate 5-epimerase activity, sulfotransferase activity, GO:0030208, GO:0030205, GO:0030204, dermatan sulfate biosynthetic process, dermatan sulfate metabolic process, chondroitin sulfate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000171453 chr6 43509702 43562419 + POLR1C protein_coding The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 9533 GO:0005829, GO:0005736, GO:0005666, GO:0005666, GO:0005654, GO:0005654, cytosol, RNA polymerase I complex, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, nucleoplasm, GO:0046983, GO:0005515, GO:0003899, GO:0003677, GO:0001056, GO:0001054, protein dimerization activity, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, RNA polymerase III activity, RNA polymerase I activity, GO:0045815, GO:0032481, GO:0006383, GO:0006363, GO:0006362, GO:0006361, GO:0006360, positive regulation of gene expression, epigenetic, positive regulation of type I interferon production, transcription by RNA polymerase III, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription by RNA polymerase I, 144 140 161 98 139 119 66 86 68 ENSG00000171456 chr20 32358330 32439319 + ASXL1 protein_coding This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 171023 GO:0035517, GO:0035517, GO:0005654, PR-DUB complex, PR-DUB complex, nucleoplasm, GO:0046872, GO:0042975, GO:0042975, GO:0042974, GO:0005515, GO:0003713, GO:0003682, GO:0003677, metal ion binding, peroxisome proliferator activated receptor binding, peroxisome proliferator activated receptor binding, retinoic acid receptor binding, protein binding, transcription coactivator activity, chromatin binding, DNA binding, GO:0072015, GO:0060430, GO:0048872, GO:0048539, GO:0048538, GO:0048386, GO:0045944, GO:0045944, GO:0045599, GO:0035564, GO:0035522, GO:0035359, GO:0032526, GO:0030097, GO:0016579, GO:0009887, GO:0006351, GO:0003007, GO:0000902, glomerular visceral epithelial cell development, lung saccule development, homeostasis of number of cells, bone marrow development, thymus development, positive regulation of retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of fat cell differentiation, regulation of kidney size, monoubiquitinated histone H2A deubiquitination, negative regulation of peroxisome proliferator activated receptor signaling pathway, response to retinoic acid, hemopoiesis, protein deubiquitination, animal organ morphogenesis, transcription, DNA-templated, heart morphogenesis, cell morphogenesis, 539 569 656 743 737 757 582 463 468 ENSG00000171459 chr9 122742303 122750783 + OR1L6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 392390 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 2 0 1 0 0 1 ENSG00000171462 chr6 43450352 43456632 - DLK2 protein_coding 65989 GO:0016021, integral component of membrane, GO:0005509, GO:0005112, calcium ion binding, Notch binding, GO:0045746, GO:0045598, negative regulation of Notch signaling pathway, regulation of fat cell differentiation, 3 5 3 4 5 7 19 3 7 ENSG00000171466 chr19 9641808 9675086 - ZNF562 protein_coding 54811 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 96 76 100 101 31 62 38 28 53 ENSG00000171467 chr6 43307134 43369478 - ZNF318 protein_coding 24149 GO:0005829, GO:0005654, GO:0005654, cytosol, nucleoplasm, nucleoplasm, GO:0042803, GO:0008270, GO:0003676, protein homodimerization activity, zinc ion binding, nucleic acid binding, GO:0051321, GO:0045893, GO:0045893, GO:0045892, GO:0045892, meiotic cell cycle, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, 140 115 280 156 118 247 147 97 147 ENSG00000171469 chr19 9604680 9621399 - ZNF561 protein_coding 93134 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 197 158 162 89 140 98 121 104 88 ENSG00000171475 chr17 40219304 40284136 + WIPF2 protein_coding This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008]. 147179 GO:0005886, GO:0005884, GO:0005829, GO:0005654, plasma membrane, actin filament, cytosol, nucleoplasm, GO:0005515, GO:0003779, protein binding, actin binding, GO:0038096, GO:0030048, Fc-gamma receptor signaling pathway involved in phagocytosis, actin filament-based movement, 2153 2050 2681 1113 1631 1373 1137 1187 1065 ENSG00000171476 chr4 56647988 56681899 - HOPX protein_coding The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2009]. 84525 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:0005515, GO:0003677, GO:0000981, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0051131, GO:0045596, GO:0006357, GO:0001829, chaperone-mediated protein complex assembly, negative regulation of cell differentiation, regulation of transcription by RNA polymerase II, trophectodermal cell differentiation, 17 20 53 42 24 140 23 28 65 ENSG00000171478 chrX 48130657 48132613 + SPACA5B protein_coding 729201 GO:0005576, extracellular region, GO:0003796, lysozyme activity, GO:0008152, metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000171481 chr9 122675036 122676153 + OR1L3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26735 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171483 chrX 48107992 48120210 + SSX6P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000171487 chr19 55999726 56061813 + NLRP5 protein_coding The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]. 126206 GO:0005938, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005634, cell cortex, mitochondrion, cytoplasm, cytoplasm, nucleolus, nucleus, GO:0005524, ATP binding, GO:0051302, GO:0051293, GO:0007015, regulation of cell division, establishment of spindle localization, actin filament organization, 0 0 0 0 0 0 0 0 0 ENSG00000171488 chr1 89633072 89769903 + LRRC8C protein_coding 84230 GO:0034702, GO:0016020, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005737, ion channel complex, membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, cytoplasm, GO:0005515, GO:0005225, GO:0005225, protein binding, volume-sensitive anion channel activity, volume-sensitive anion channel activity, GO:0098656, GO:0098656, GO:0071470, GO:0055085, GO:0045444, GO:0034214, GO:0015810, GO:0015734, GO:0015698, anion transmembrane transport, anion transmembrane transport, cellular response to osmotic stress, transmembrane transport, fat cell differentiation, protein hexamerization, aspartate transmembrane transport, taurine transport, inorganic anion transport, 105 63 182 220 108 234 177 64 130 ENSG00000171489 chrX 48004336 48009729 + SPACA5 protein_coding 389852 GO:0005576, extracellular region, GO:0003796, lysozyme activity, GO:0008152, metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000171490 chr16 11833850 11851585 - RSL1D1 protein_coding 26156 GO:0030686, GO:0016020, GO:0005730, 90S preribosome, membrane, nucleolus, GO:0048027, GO:0045296, GO:0003730, GO:0003723, GO:0003723, mRNA 5'-UTR binding, cadherin binding, mRNA 3'-UTR binding, RNA binding, RNA binding, GO:2000772, GO:0042981, GO:0032880, GO:0001649, GO:0000470, regulation of cellular senescence, regulation of apoptotic process, regulation of protein localization, osteoblast differentiation, maturation of LSU-rRNA, 141 77 234 483 166 418 316 110 252 ENSG00000171492 chr1 89821014 89936611 + LRRC8D protein_coding 55144 GO:0034702, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005737, ion channel complex, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, cytoplasm, GO:0005515, GO:0005225, GO:0005225, protein binding, volume-sensitive anion channel activity, volume-sensitive anion channel activity, GO:0098656, GO:0071470, GO:0055085, GO:0015810, GO:0015734, GO:0015698, anion transmembrane transport, cellular response to osmotic stress, transmembrane transport, aspartate transmembrane transport, taurine transport, inorganic anion transport, 52 65 75 129 93 99 107 52 69 ENSG00000171495 chr5 40998017 41071342 - MROH2B protein_coding 133558 GO:0097225, GO:0036126, GO:0005737, GO:0001669, sperm midpiece, sperm flagellum, cytoplasm, acrosomal vesicle, GO:0030154, GO:0010737, GO:0007283, cell differentiation, protein kinase A signaling, spermatogenesis, 0 0 0 3 0 0 0 0 0 ENSG00000171496 chr9 122567117 122583384 - OR1L8 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 138881 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 4 5 0 0 0 0 0 ENSG00000171497 chr4 158709134 158723396 - PPID protein_coding The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]. 5481 GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0051879, GO:0031072, GO:0030544, GO:0030331, GO:0016018, GO:0016018, GO:0016018, GO:0008134, GO:0005515, GO:0003755, GO:0003755, Hsp90 protein binding, heat shock protein binding, Hsp70 protein binding, estrogen receptor binding, cyclosporin A binding, cyclosporin A binding, cyclosporin A binding, transcription factor binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:0071492, GO:0065003, GO:0061077, GO:0050714, GO:0045070, GO:0043065, GO:0034389, GO:0019076, GO:0015031, GO:0006915, GO:0006457, GO:0006457, GO:0000413, GO:0000413, GO:0000122, cellular response to UV-A, protein-containing complex assembly, chaperone-mediated protein folding, positive regulation of protein secretion, positive regulation of viral genome replication, positive regulation of apoptotic process, lipid droplet organization, viral release from host cell, protein transport, apoptotic process, protein folding, protein folding, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, negative regulation of transcription by RNA polymerase II, 204 231 465 114 161 184 96 133 164 ENSG00000171501 chr9 122553112 122554214 + OR1N2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 138882 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171502 chr1 85729233 86156943 - COL24A1 protein_coding This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]. 255631 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005581, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen trimer, extracellular region, GO:0030020, GO:0005515, GO:0005201, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0030198, extracellular matrix organization, 2 1 0 1 5 10 0 2 0 ENSG00000171503 chr4 158672125 158709623 + ETFDH protein_coding This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]. 2110 GO:0031966, GO:0031305, GO:0031305, GO:0005759, mitochondrial membrane, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrial matrix, GO:0051539, GO:0051539, GO:0050660, GO:0048039, GO:0048039, GO:0048038, GO:0046872, GO:0043783, GO:0043783, GO:0016491, GO:0009055, GO:0005515, GO:0004174, GO:0004174, GO:0004174, 4 iron, 4 sulfur cluster binding, 4 iron, 4 sulfur cluster binding, flavin adenine dinucleotide binding, ubiquinone binding, ubiquinone binding, quinone binding, metal ion binding, oxidoreductase activity, oxidizing metal ions with flavin as acceptor, oxidoreductase activity, oxidizing metal ions with flavin as acceptor, oxidoreductase activity, electron transfer activity, protein binding, electron-transferring-flavoprotein dehydrogenase activity, electron-transferring-flavoprotein dehydrogenase activity, electron-transferring-flavoprotein dehydrogenase activity, GO:0033539, GO:0022904, GO:0022904, GO:0022900, GO:0006979, fatty acid beta-oxidation using acyl-CoA dehydrogenase, respiratory electron transport chain, respiratory electron transport chain, electron transport chain, response to oxidative stress, 111 102 185 64 98 141 103 79 82 ENSG00000171505 chr9 122526358 122527296 - OR1N1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 138883 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171509 chr4 158315311 158653372 + RXFP1 protein_coding This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 59350 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0008528, GO:0005515, GO:0004930, metal ion binding, G protein-coupled peptide receptor activity, protein binding, G protein-coupled receptor activity, GO:0009755, GO:0007190, GO:0007189, GO:0007186, hormone-mediated signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000171517 chr1 84811602 84893213 - LPAR3 protein_coding This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008]. 23566 GO:0045202, GO:0030424, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, synapse, axon, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0070915, GO:0008289, GO:0005543, GO:0005515, GO:0004930, GO:0001965, lysophosphatidic acid receptor activity, lipid binding, phospholipid binding, protein binding, G protein-coupled receptor activity, G-protein alpha-subunit binding, GO:0051928, GO:0051482, GO:0048672, GO:0032060, GO:0019222, GO:0007268, GO:0007204, GO:0007189, GO:0007187, GO:0007186, GO:0000187, positive regulation of calcium ion transport, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of collateral sprouting, bleb assembly, regulation of metabolic process, chemical synaptic transmission, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, activation of MAPK activity, 0 0 1 2 0 0 0 2 0 ENSG00000171522 chr5 40679498 40693735 + PTGER4 protein_coding The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008]. 5734 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004957, GO:0004957, protein binding, prostaglandin E receptor activity, prostaglandin E receptor activity, GO:2000420, GO:0071380, GO:0071260, GO:0070371, GO:0060348, GO:0051492, GO:0050729, GO:0050728, GO:0050728, GO:0042093, GO:0033624, GO:0032496, GO:0030278, GO:0009612, GO:0007254, GO:0007204, GO:0007189, GO:0007188, GO:0007186, GO:0006955, GO:0006954, GO:0001819, GO:0001818, negative regulation of eosinophil extravasation, cellular response to prostaglandin E stimulus, cellular response to mechanical stimulus, ERK1 and ERK2 cascade, bone development, regulation of stress fiber assembly, positive regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of inflammatory response, T-helper cell differentiation, negative regulation of integrin activation, response to lipopolysaccharide, regulation of ossification, response to mechanical stimulus, JNK cascade, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, inflammatory response, positive regulation of cytokine production, negative regulation of cytokine production, 520 991 916 515 719 659 971 680 727 ENSG00000171530 chr5 77691166 77868780 - TBCA protein_coding The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 6902 GO:0015630, GO:0015630, GO:0005874, GO:0005829, GO:0005737, GO:0005730, microtubule cytoskeleton, microtubule cytoskeleton, microtubule, cytosol, cytoplasm, nucleolus, GO:0051087, GO:0048487, GO:0015631, GO:0005515, GO:0003723, chaperone binding, beta-tubulin binding, tubulin binding, protein binding, RNA binding, GO:0007023, GO:0007021, GO:0006457, GO:0006457, post-chaperonin tubulin folding pathway, tubulin complex assembly, protein folding, protein folding, 116 76 138 121 108 207 158 124 162 ENSG00000171532 chr17 39603536 39609777 - NEUROD2 protein_coding This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]. 4761 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0070888, GO:0046982, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, protein heterodimerization activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000297, GO:0090129, GO:0071277, GO:0071257, GO:0051091, GO:0050850, GO:0048666, GO:0045944, GO:0045666, GO:0031915, GO:0030182, GO:0021695, GO:0016567, GO:0008306, GO:0007399, GO:0006357, GO:0001662, negative regulation of synapse maturation, positive regulation of synapse maturation, cellular response to calcium ion, cellular response to electrical stimulus, positive regulation of DNA-binding transcription factor activity, positive regulation of calcium-mediated signaling, neuron development, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, positive regulation of synaptic plasticity, neuron differentiation, cerebellar cortex development, protein ubiquitination, associative learning, nervous system development, regulation of transcription by RNA polymerase II, behavioral fear response, 1 0 0 0 2 0 0 0 0 ENSG00000171533 chr11 75586918 75669120 - MAP6 protein_coding This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 4135 GO:0048471, GO:0030658, GO:0030425, GO:0030424, GO:0005874, GO:0005874, GO:0005801, GO:0005798, perinuclear region of cytoplasm, transport vesicle membrane, dendrite, axon, microtubule, microtubule, cis-Golgi network, Golgi-associated vesicle, GO:0008017, GO:0005516, GO:0005515, microtubule binding, calmodulin binding, protein binding, GO:0070507, GO:0050772, GO:0048813, GO:0048813, GO:0032418, GO:0030705, GO:0000226, regulation of microtubule cytoskeleton organization, positive regulation of axonogenesis, dendrite morphogenesis, dendrite morphogenesis, lysosome localization, cytoskeleton-dependent intracellular transport, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000171540 chr5 77628712 77639688 - OTP protein_coding This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]. 23440 GO:0000785, chromatin, GO:0005515, GO:0003677, GO:0001227, GO:0000981, GO:0000977, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0030182, GO:0021985, GO:0021979, GO:0021879, GO:0002052, GO:0000122, neuron differentiation, neurohypophysis development, hypothalamus cell differentiation, forebrain neuron differentiation, positive regulation of neuroblast proliferation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000171551 chr2 232479827 232487828 - ECEL1 protein_coding This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]. 9427 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0008237, GO:0004222, GO:0004222, metal ion binding, metallopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0016485, GO:0007218, GO:0006508, GO:0003016, protein processing, neuropeptide signaling pathway, proteolysis, respiratory system process, 0 0 0 3 0 0 0 0 0 ENSG00000171552 chr20 31664452 31723989 - BCL2L1 protein_coding The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]. 598 GO:0097136, GO:0031965, GO:0030672, GO:0016021, GO:0005829, GO:0005813, GO:0005783, GO:0005759, GO:0005743, GO:0005741, GO:0005741, GO:0005741, GO:0005739, GO:0005737, Bcl-2 family protein complex, nuclear membrane, synaptic vesicle membrane, integral component of membrane, cytosol, centrosome, endoplasmic reticulum, mitochondrial matrix, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, GO:0051434, GO:0046982, GO:0042803, GO:0042802, GO:0019901, GO:0005515, BH3 domain binding, protein heterodimerization activity, protein homodimerization activity, identical protein binding, protein kinase binding, protein binding, GO:2001244, GO:2001243, GO:2001243, GO:2001240, GO:1903077, GO:1902236, GO:1902230, GO:1902042, GO:1900118, GO:0097284, GO:0097192, GO:0090201, GO:0071839, GO:0071480, GO:0071312, GO:0071230, GO:0070584, GO:0051881, GO:0051607, GO:0051402, GO:0046902, GO:0046898, GO:0043524, GO:0043066, GO:0040008, GO:0034097, GO:0032465, GO:0019221, GO:0019050, GO:0009566, GO:0008637, GO:0008630, GO:0008584, GO:0008284, GO:0008283, GO:0007283, GO:0007281, GO:0007093, GO:0006897, GO:0001836, GO:0001701, GO:0001541, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of protein localization to plasma membrane, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of execution phase of apoptosis, hepatocyte apoptotic process, extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of release of cytochrome c from mitochondria, apoptotic process in bone marrow cell, cellular response to gamma radiation, cellular response to alkaloid, cellular response to amino acid stimulus, mitochondrion morphogenesis, regulation of mitochondrial membrane potential, defense response to virus, neuron apoptotic process, regulation of mitochondrial membrane permeability, response to cycloheximide, negative regulation of neuron apoptotic process, negative regulation of apoptotic process, regulation of growth, response to cytokine, regulation of cytokinesis, cytokine-mediated signaling pathway, suppression by virus of host apoptotic process, fertilization, apoptotic mitochondrial changes, intrinsic apoptotic signaling pathway in response to DNA damage, male gonad development, positive regulation of cell population proliferation, cell population proliferation, spermatogenesis, germ cell development, mitotic cell cycle checkpoint, endocytosis, release of cytochrome c from mitochondria, in utero embryonic development, ovarian follicle development, 135 106 162 108 129 153 104 101 119 ENSG00000171557 chr4 154604134 154612967 - FGG protein_coding The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 2266 GO:0072562, GO:0070062, GO:0062023, GO:0062023, GO:0031093, GO:0031091, GO:0009986, GO:0009897, GO:0005886, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005577, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet alpha granule lumen, platelet alpha granule, cell surface, external side of plasma membrane, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, fibrinogen complex, extracellular region, GO:0050839, GO:0046872, GO:0042802, GO:0005515, GO:0005201, GO:0005201, GO:0005198, GO:0005102, GO:0005102, cell adhesion molecule binding, metal ion binding, identical protein binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, structural molecule activity, signaling receptor binding, signaling receptor binding, GO:2000352, GO:1902042, GO:1900026, GO:0090331, GO:0090277, GO:0072378, GO:0072378, GO:0072378, GO:0071354, GO:0071347, GO:0070527, GO:0070527, GO:0070374, GO:0051592, GO:0051258, GO:0050714, GO:0045921, GO:0045907, GO:0044267, GO:0043687, GO:0042730, GO:0036345, GO:0034622, GO:0034116, GO:0031639, GO:0030198, GO:0009306, GO:0007596, GO:0007160, GO:0007160, GO:0002576, GO:0002224, negative regulation of endothelial cell apoptotic process, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of substrate adhesion-dependent cell spreading, negative regulation of platelet aggregation, positive regulation of peptide hormone secretion, blood coagulation, fibrin clot formation, blood coagulation, fibrin clot formation, blood coagulation, fibrin clot formation, cellular response to interleukin-6, cellular response to interleukin-1, platelet aggregation, platelet aggregation, positive regulation of ERK1 and ERK2 cascade, response to calcium ion, protein polymerization, positive regulation of protein secretion, positive regulation of exocytosis, positive regulation of vasoconstriction, cellular protein metabolic process, post-translational protein modification, fibrinolysis, platelet maturation, cellular protein-containing complex assembly, positive regulation of heterotypic cell-cell adhesion, plasminogen activation, extracellular matrix organization, protein secretion, blood coagulation, cell-matrix adhesion, cell-matrix adhesion, platelet degranulation, toll-like receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171560 chr4 154583126 154590766 - FGA protein_coding This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]. 2243 GO:1903561, GO:0072562, GO:0070062, GO:0062023, GO:0045202, GO:0031093, GO:0031091, GO:0009986, GO:0009897, GO:0005938, GO:0005886, GO:0005788, GO:0005615, GO:0005577, GO:0005577, GO:0005576, GO:0005576, extracellular vesicle, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, synapse, platelet alpha granule lumen, platelet alpha granule, cell surface, external side of plasma membrane, cell cortex, plasma membrane, endoplasmic reticulum lumen, extracellular space, fibrinogen complex, fibrinogen complex, extracellular region, extracellular region, GO:0050839, GO:0046872, GO:0005515, GO:0005201, GO:0005201, GO:0005198, GO:0005198, GO:0005102, cell adhesion molecule binding, metal ion binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, structural molecule activity, structural molecule activity, signaling receptor binding, GO:2000352, GO:2000352, GO:1902042, GO:1902042, GO:1900026, GO:0090277, GO:0090277, GO:0072378, GO:0072377, GO:0072377, GO:0070527, GO:0070527, GO:0070527, GO:0070374, GO:0070374, GO:0065003, GO:0051592, GO:0051258, GO:0051258, GO:0050714, GO:0045921, GO:0045907, GO:0045087, GO:0044267, GO:0043687, GO:0043152, GO:0042730, GO:0042730, GO:0034622, GO:0034116, GO:0034116, GO:0031639, GO:0030198, GO:0007596, GO:0007160, GO:0002576, GO:0002250, GO:0002224, negative regulation of endothelial cell apoptotic process, negative regulation of endothelial cell apoptotic process, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of substrate adhesion-dependent cell spreading, positive regulation of peptide hormone secretion, positive regulation of peptide hormone secretion, blood coagulation, fibrin clot formation, blood coagulation, common pathway, blood coagulation, common pathway, platelet aggregation, platelet aggregation, platelet aggregation, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, protein-containing complex assembly, response to calcium ion, protein polymerization, protein polymerization, positive regulation of protein secretion, positive regulation of exocytosis, positive regulation of vasoconstriction, innate immune response, cellular protein metabolic process, post-translational protein modification, induction of bacterial agglutination, fibrinolysis, fibrinolysis, cellular protein-containing complex assembly, positive regulation of heterotypic cell-cell adhesion, positive regulation of heterotypic cell-cell adhesion, plasminogen activation, extracellular matrix organization, blood coagulation, cell-matrix adhesion, platelet degranulation, adaptive immune response, toll-like receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171561 chr11 75081753 75096876 - OR2AT4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 341152 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0070374, GO:0050911, GO:0007186, positive regulation of ERK1 and ERK2 cascade, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171564 chr4 154562956 154571086 + FGB protein_coding The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]. 2244 GO:1903561, GO:0072562, GO:0070062, GO:0062023, GO:0062023, GO:0031093, GO:0031091, GO:0009986, GO:0009897, GO:0005938, GO:0005886, GO:0005783, GO:0005615, GO:0005615, GO:0005615, GO:0005577, GO:0005576, GO:0005576, extracellular vesicle, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet alpha granule lumen, platelet alpha granule, cell surface, external side of plasma membrane, cell cortex, plasma membrane, endoplasmic reticulum, extracellular space, extracellular space, extracellular space, fibrinogen complex, extracellular region, extracellular region, GO:0051087, GO:0050839, GO:0005515, GO:0005201, GO:0005201, GO:0005198, GO:0005102, chaperone binding, cell adhesion molecule binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, structural molecule activity, signaling receptor binding, GO:2000352, GO:1902042, GO:1900026, GO:0090277, GO:0072378, GO:0072378, GO:0071347, GO:0070527, GO:0070527, GO:0070374, GO:0051592, GO:0051258, GO:0050714, GO:0045921, GO:0045907, GO:0045087, GO:0044320, GO:0043152, GO:0042730, GO:0034622, GO:0034116, GO:0031639, GO:0030198, GO:0007596, GO:0007160, GO:0007160, GO:0007155, GO:0002576, GO:0002250, GO:0002224, negative regulation of endothelial cell apoptotic process, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of substrate adhesion-dependent cell spreading, positive regulation of peptide hormone secretion, blood coagulation, fibrin clot formation, blood coagulation, fibrin clot formation, cellular response to interleukin-1, platelet aggregation, platelet aggregation, positive regulation of ERK1 and ERK2 cascade, response to calcium ion, protein polymerization, positive regulation of protein secretion, positive regulation of exocytosis, positive regulation of vasoconstriction, innate immune response, cellular response to leptin stimulus, induction of bacterial agglutination, fibrinolysis, cellular protein-containing complex assembly, positive regulation of heterotypic cell-cell adhesion, plasminogen activation, extracellular matrix organization, blood coagulation, cell-matrix adhesion, cell-matrix adhesion, cell adhesion, platelet degranulation, adaptive immune response, toll-like receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171566 chr4 154535006 154550435 - PLRG1 protein_coding This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 5356 GO:0080008, GO:0071013, GO:0071013, GO:0071007, GO:0031965, GO:0016607, GO:0005662, GO:0005654, GO:0005634, GO:0001650, GO:0000974, Cul4-RING E3 ubiquitin ligase complex, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, nuclear membrane, nuclear speck, DNA replication factor A complex, nucleoplasm, nucleus, fibrillar center, Prp19 complex, GO:0005515, protein binding, GO:1900087, GO:0034504, GO:0000398, GO:0000398, GO:0000398, GO:0000398, positive regulation of G1/S transition of mitotic cell cycle, protein localization to nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 90 59 92 103 49 117 59 63 92 ENSG00000171570 chr19 40778242 40808418 + RAB4B-EGLN2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000171574 chr19 58401504 58418327 + ZNF584 protein_coding 201514 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 9 3 10 6 0 0 11 0 15 ENSG00000171587 chr21 40010999 40847139 - DSCAM protein_coding This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]. 1826 GO:0045202, GO:0043025, GO:0030426, GO:0030425, GO:0030424, GO:0030424, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005576, synapse, neuronal cell body, growth cone, dendrite, axon, axon, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:1990890, GO:1990782, GO:0098632, GO:0005515, netrin receptor binding, protein tyrosine kinase binding, cell-cell adhesion mediator activity, protein binding, GO:0070593, GO:0070593, GO:0060219, GO:0060060, GO:0048842, GO:0048813, GO:0042327, GO:0038007, GO:0010842, GO:0007626, GO:0007416, GO:0007411, GO:0007411, GO:0007399, GO:0007162, GO:0007156, GO:0007156, GO:0007155, dendrite self-avoidance, dendrite self-avoidance, camera-type eye photoreceptor cell differentiation, post-embryonic retina morphogenesis in camera-type eye, positive regulation of axon extension involved in axon guidance, dendrite morphogenesis, positive regulation of phosphorylation, netrin-activated signaling pathway, retina layer formation, locomotory behavior, synapse assembly, axon guidance, axon guidance, nervous system development, negative regulation of cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000171595 chr17 74274247 74314884 + DNAI2 protein_coding The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]. 64446 GO:0036157, GO:0036157, GO:0036126, GO:0009897, GO:0005930, GO:0005930, GO:0005874, GO:0005858, outer dynein arm, outer dynein arm, sperm flagellum, external side of plasma membrane, axoneme, axoneme, microtubule, axonemal dynein complex, GO:0045504, GO:0045503, GO:0005515, GO:0003777, dynein heavy chain binding, dynein light chain binding, protein binding, microtubule motor activity, GO:0060271, GO:0036158, GO:0036158, GO:0007368, GO:0007018, GO:0003341, GO:0003341, cilium assembly, outer dynein arm assembly, outer dynein arm assembly, determination of left/right symmetry, microtubule-based movement, cilium movement, cilium movement, 1 0 0 1 1 2 4 3 0 ENSG00000171596 chr2 231523160 231530495 - NMUR1 protein_coding 10316 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0042924, GO:0008188, GO:0004930, GO:0001607, neuromedin U binding, neuropeptide receptor activity, G protein-coupled receptor activity, neuromedin U receptor activity, GO:0048016, GO:0019722, GO:0007218, GO:0007202, GO:0007200, GO:0007186, GO:0006939, GO:0006821, GO:0006816, inositol phosphate-mediated signaling, calcium-mediated signaling, neuropeptide signaling pathway, activation of phospholipase C activity, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, smooth muscle contraction, chloride transport, calcium ion transport, 2 5 13 17 11 63 9 11 37 ENSG00000171603 chr1 9729026 9824526 - CLSTN1 protein_coding This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 22883 GO:0099061, GO:0098982, GO:0098978, GO:0045211, GO:0043005, GO:0009986, GO:0005789, GO:0005634, GO:0005576, GO:0000139, integral component of postsynaptic density membrane, GABA-ergic synapse, glutamatergic synapse, postsynaptic membrane, neuron projection, cell surface, endoplasmic reticulum membrane, nucleus, extracellular region, Golgi membrane, GO:0042988, GO:0019894, GO:0005515, GO:0005509, GO:0001540, X11-like protein binding, kinesin binding, protein binding, calcium ion binding, amyloid-beta binding, GO:0099003, GO:0098969, GO:0090128, GO:0051965, GO:0050806, GO:0007156, GO:0007155, GO:0001558, vesicle-mediated transport in synapse, neurotransmitter receptor transport to postsynaptic membrane, regulation of synapse maturation, positive regulation of synapse assembly, positive regulation of synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, regulation of cell growth, 291 370 432 510 583 835 594 428 626 ENSG00000171604 chr5 139647299 139683882 + CXXC5 protein_coding The protein encoded by this gene is a retinoid-inducible nuclear protein containing a CXXC-type zinc finger motif. The encoded protein is involved in myelopoiesis, is required for DNA damage-induced p53 activation, regulates the differentiation of C2C12 myoblasts into myocytes, and negatively regulates cutaneous wound healing. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]. 51523 GO:0005829, GO:0005654, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0043565, GO:0008327, GO:0008327, GO:0008270, GO:0008134, GO:0005515, sequence-specific DNA binding, methyl-CpG binding, methyl-CpG binding, zinc ion binding, transcription factor binding, protein binding, GO:0043123, GO:0000122, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of transcription by RNA polymerase II, 10 9 16 44 20 14 31 19 19 ENSG00000171606 chr19 58183029 58213562 + ZNF274 protein_coding This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]. 10782 GO:0005737, GO:0005730, GO:0000785, cytoplasm, nucleolus, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0003682, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1900112, GO:0006357, GO:0006355, GO:0000122, regulation of histone H3-K9 trimethylation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1376 1585 1806 1445 2009 1624 1314 1417 1297 ENSG00000171608 chr1 9651732 9729114 + PIK3CD protein_coding Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]. 5293 GO:0016020, GO:0005942, GO:0005942, GO:0005886, GO:0005886, GO:0005829, GO:0005737, membrane, phosphatidylinositol 3-kinase complex, phosphatidylinositol 3-kinase complex, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0052812, GO:0052742, GO:0046934, GO:0035005, GO:0035004, GO:0016303, GO:0016303, GO:0016301, GO:0005524, GO:0005515, phosphatidylinositol-3,4-bisphosphate 5-kinase activity, phosphatidylinositol kinase activity, phosphatidylinositol-4,5-bisphosphate 3-kinase activity, 1-phosphatidylinositol-4-phosphate 3-kinase activity, phosphatidylinositol 3-kinase activity, 1-phosphatidylinositol-3-kinase activity, 1-phosphatidylinositol-3-kinase activity, kinase activity, ATP binding, protein binding, GO:1905278, GO:0072672, GO:0060374, GO:0051897, GO:0051897, GO:0050853, GO:0050852, GO:0048015, GO:0046854, GO:0045766, GO:0045087, GO:0043303, GO:0042113, GO:0042110, GO:0038089, GO:0036092, GO:0035754, GO:0035747, GO:0033031, GO:0030593, GO:0030335, GO:0030217, GO:0030101, GO:0019221, GO:0016477, GO:0016310, GO:0014068, GO:0014065, GO:0014065, GO:0014065, GO:0014065, GO:0010818, GO:0010629, GO:0010628, GO:0010595, GO:0007411, GO:0007165, GO:0006954, GO:0006661, GO:0006468, GO:0002679, GO:0002551, GO:0002250, GO:0001938, GO:0001816, GO:0001779, positive regulation of epithelial tube formation, neutrophil extravasation, mast cell differentiation, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, B cell receptor signaling pathway, T cell receptor signaling pathway, phosphatidylinositol-mediated signaling, phosphatidylinositol phosphorylation, positive regulation of angiogenesis, innate immune response, mast cell degranulation, B cell activation, T cell activation, positive regulation of cell migration by vascular endothelial growth factor signaling pathway, phosphatidylinositol-3-phosphate biosynthetic process, B cell chemotaxis, natural killer cell chemotaxis, positive regulation of neutrophil apoptotic process, neutrophil chemotaxis, positive regulation of cell migration, T cell differentiation, natural killer cell activation, cytokine-mediated signaling pathway, cell migration, phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, T cell chemotaxis, negative regulation of gene expression, positive regulation of gene expression, positive regulation of endothelial cell migration, axon guidance, signal transduction, inflammatory response, phosphatidylinositol biosynthetic process, protein phosphorylation, respiratory burst involved in defense response, mast cell chemotaxis, adaptive immune response, positive regulation of endothelial cell proliferation, cytokine production, natural killer cell differentiation, 7375 7844 8828 6423 8301 8031 7381 6556 7020 ENSG00000171611 chr6 42915989 42925835 + PTCRA protein_coding The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]. 171558 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0070244, negative regulation of thymocyte apoptotic process, 1 0 0 3 2 0 10 0 0 ENSG00000171612 chr1 9539482 9585179 + SLC25A33 protein_coding SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]. 84275 GO:0031966, GO:0016021, GO:0005743, mitochondrial membrane, integral component of membrane, mitochondrial inner membrane, GO:0015218, GO:0015218, pyrimidine nucleotide transmembrane transporter activity, pyrimidine nucleotide transmembrane transporter activity, GO:1990519, GO:1990519, GO:1990519, GO:1990314, GO:1903426, GO:0071156, GO:0051881, GO:0034551, GO:0032869, GO:0031930, GO:0030307, GO:0030307, GO:0008284, GO:0007005, GO:0007005, GO:0006864, GO:0006390, GO:0002082, GO:0000002, pyrimidine nucleotide import into mitochondrion, pyrimidine nucleotide import into mitochondrion, pyrimidine nucleotide import into mitochondrion, cellular response to insulin-like growth factor stimulus, regulation of reactive oxygen species biosynthetic process, regulation of cell cycle arrest, regulation of mitochondrial membrane potential, mitochondrial respiratory chain complex III assembly, cellular response to insulin stimulus, mitochondria-nucleus signaling pathway, positive regulation of cell growth, positive regulation of cell growth, positive regulation of cell population proliferation, mitochondrion organization, mitochondrion organization, pyrimidine nucleotide transport, mitochondrial transcription, regulation of oxidative phosphorylation, mitochondrial genome maintenance, 20 34 43 615 432 489 353 191 177 ENSG00000171617 chr5 74627406 74641424 - ENC1 protein_coding This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 8507 GO:0043025, GO:0031463, GO:0031463, GO:0016363, GO:0005856, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000785, neuronal cell body, Cul3-RING ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, nuclear matrix, cytoskeleton, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, chromatin, GO:0005515, GO:0003779, protein binding, actin binding, GO:0017148, GO:0016567, GO:0010976, GO:0010499, GO:0010499, GO:0007399, GO:0007275, negative regulation of translation, protein ubiquitination, positive regulation of neuron projection development, proteasomal ubiquitin-independent protein catabolic process, proteasomal ubiquitin-independent protein catabolic process, nervous system development, multicellular organism development, 174 132 264 99 53 108 94 33 102 ENSG00000171621 chr1 9292880 9369532 + SPSB1 protein_coding 80176 GO:0019005, GO:0005829, GO:0005829, SCF ubiquitin ligase complex, cytosol, cytosol, GO:1990756, GO:0005515, ubiquitin ligase-substrate adaptor activity, protein binding, GO:0043687, GO:0043161, GO:0016567, GO:0006511, GO:0000209, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 8 6 7 7 2 11 10 3 6 ENSG00000171631 chr11 73264505 73298617 + P2RY6 protein_coding The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, which is a G-protein coupled receptor, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this receptor mediates inflammatory responses. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013]. 5031 GO:0016324, GO:0016323, GO:0005887, GO:0005886, GO:0005886, apical plasma membrane, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0045030, GO:0045029, GO:0005515, GO:0004930, GO:0001621, G protein-coupled UTP receptor activity, G protein-coupled UDP receptor activity, protein binding, G protein-coupled receptor activity, G protein-coupled ADP receptor activity, GO:1905835, GO:1905835, GO:1904707, GO:0071415, GO:0071380, GO:0070374, GO:0035589, GO:0032962, GO:0032962, GO:0031587, GO:0031587, GO:0030321, GO:0014911, GO:0007202, GO:0007200, GO:0007186, GO:0006909, cellular response to pyrimidine ribonucleotide, cellular response to pyrimidine ribonucleotide, positive regulation of vascular associated smooth muscle cell proliferation, cellular response to purine-containing compound, cellular response to prostaglandin E stimulus, positive regulation of ERK1 and ERK2 cascade, G protein-coupled purinergic nucleotide receptor signaling pathway, positive regulation of inositol trisphosphate biosynthetic process, positive regulation of inositol trisphosphate biosynthetic process, positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, transepithelial chloride transport, positive regulation of smooth muscle cell migration, activation of phospholipase C activity, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, phagocytosis, 8 3 5 1 2 0 12 6 5 ENSG00000171634 chr17 67825524 67984378 + BPTF protein_coding This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]. 2186 GO:0070062, GO:0016589, GO:0016589, GO:0005737, GO:0005654, GO:0005634, GO:0000785, extracellular exosome, NURF complex, NURF complex, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0043565, GO:0043565, GO:0035064, GO:0008134, GO:0008094, GO:0005515, GO:0000978, metal ion binding, sequence-specific DNA binding, sequence-specific DNA binding, methylated histone binding, transcription factor binding, DNA-dependent ATPase activity, protein binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0042766, GO:0009952, GO:0007492, GO:0007420, GO:0006357, GO:0006357, GO:0006338, GO:0001892, GO:0000122, positive regulation of transcription by RNA polymerase II, nucleosome mobilization, anterior/posterior pattern specification, endoderm development, brain development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, embryonic placenta development, negative regulation of transcription by RNA polymerase II, 1357 1510 1701 793 966 1027 826 709 901 ENSG00000171643 chr5 76850001 76921650 + S100Z protein_coding Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]. 170591 GO:0048306, GO:0042803, GO:0005515, GO:0005509, GO:0005509, calcium-dependent protein binding, protein homodimerization activity, protein binding, calcium ion binding, calcium ion binding, GO:0008150, biological_process, 21 49 23 10 39 33 21 38 18 ENSG00000171649 chr19 57578456 57593777 + ZIK1 protein_coding 284307 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 2 8 6 9 11 4 11 4 ENSG00000171657 chrX 41724155 41730135 + GPR82 protein_coding The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]. 27197 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 13 11 38 2 0 0 0 2 0 ENSG00000171658 chr3 185959943 185980872 + NMRAL2P transcribed_unprocessed_pseudogene 344887 1 0 1 0 1 1 4 0 3 ENSG00000171659 chrX 41688973 41697277 + GPR34 protein_coding G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006]. 2857 GO:0005887, integral component of plasma membrane, GO:0045028, GO:0004930, G protein-coupled purinergic nucleotide receptor activity, G protein-coupled receptor activity, GO:0035589, GO:0007186, G protein-coupled purinergic nucleotide receptor signaling pathway, G protein-coupled receptor signaling pathway, 8 10 21 4 4 0 3 4 0 ENSG00000171671 chr11 70862790 70865115 + SHANK2-AS3 antisense 220070 0 0 0 0 0 0 0 0 0 ENSG00000171680 chr1 6466092 6520061 - PLEKHG5 protein_coding This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 57449 GO:0048471, GO:0030424, GO:0030139, GO:0030139, GO:0030027, GO:0005911, GO:0005886, GO:0005829, GO:0005737, perinuclear region of cytoplasm, axon, endocytic vesicle, endocytic vesicle, lamellipodium, cell-cell junction, plasma membrane, cytosol, cytoplasm, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0099575, GO:0051056, GO:0043542, GO:0043123, GO:0043065, GO:0035767, GO:0007266, GO:0007186, regulation of protein catabolic process at presynapse, modulating synaptic transmission, regulation of small GTPase mediated signal transduction, endothelial cell migration, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, endothelial cell chemotaxis, Rho protein signal transduction, G protein-coupled receptor signaling pathway, 5 2 9 23 3 17 16 1 10 ENSG00000171681 chr12 14365632 14502935 + ATF7IP protein_coding ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]. 55729 GO:0016604, GO:0005829, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, nuclear body, cytosol, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0016887, GO:0005515, GO:0003714, ATPase activity, protein binding, transcription corepressor activity, GO:0090309, GO:0050821, GO:0045898, GO:0045893, GO:0045892, GO:0031647, GO:0016032, GO:0006306, GO:0000122, positive regulation of DNA methylation-dependent heterochromatin assembly, protein stabilization, regulation of RNA polymerase II transcription preinitiation complex assembly, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of protein stability, viral process, DNA methylation, negative regulation of transcription by RNA polymerase II, 1871 2186 2115 1298 2217 2128 1612 1589 1642 ENSG00000171695 chr20 64083380 64084359 - LKAAEAR1 protein_coding 198437 1 1 4 1 1 0 1 1 10 ENSG00000171700 chr20 64073181 64079988 - RGS19 protein_coding G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]. 10287 GO:0045121, GO:0030136, GO:0016020, GO:0005903, GO:0005886, GO:0005794, membrane raft, clathrin-coated vesicle, membrane, brush border, plasma membrane, Golgi apparatus, GO:0005515, GO:0003924, GO:0001965, protein binding, GTPase activity, G-protein alpha-subunit binding, GO:0045471, GO:0009968, GO:0007264, GO:0007186, GO:0006914, response to ethanol, negative regulation of signal transduction, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, autophagy, 2767 2113 3200 501 1403 890 728 1519 855 ENSG00000171703 chr20 64049836 64072347 + TCEA2 protein_coding The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6919 GO:0008023, transcription elongation factor complex, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:0045944, GO:0032784, GO:0006354, positive regulation of transcription by RNA polymerase II, regulation of DNA-templated transcription, elongation, DNA-templated transcription, elongation, 45 65 63 52 38 58 45 34 30 ENSG00000171711 chr8 7894629 7896711 + DEFB4A protein_coding Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008]. 1673 GO:0005796, GO:0005615, GO:0005615, GO:0005576, Golgi lumen, extracellular space, extracellular space, extracellular region, GO:0042056, GO:0031731, GO:0031731, GO:0005515, chemoattractant activity, CCR6 chemokine receptor binding, CCR6 chemokine receptor binding, protein binding, GO:0061844, GO:0060326, GO:0050918, GO:0050830, GO:0050829, GO:0042742, GO:0042742, GO:0031640, GO:0031640, GO:0019730, GO:0007186, GO:0006955, GO:0006935, antimicrobial humoral immune response mediated by antimicrobial peptide, cell chemotaxis, positive chemotaxis, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to bacterium, defense response to bacterium, killing of cells of other organism, killing of cells of other organism, antimicrobial humoral response, G protein-coupled receptor signaling pathway, immune response, chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000171714 chr11 21799934 22283357 + ANO5 protein_coding This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]. 203859 GO:0031982, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005789, vesicle, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0046983, GO:0005254, GO:0005229, GO:0005229, protein dimerization activity, chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902476, GO:0055085, GO:0034220, GO:0006821, chloride transmembrane transport, transmembrane transport, ion transmembrane transport, chloride transport, 0 0 0 0 0 0 0 0 0 ENSG00000171720 chr5 141620876 141636870 - HDAC3 protein_coding Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]. 8841 GO:0072686, GO:0017053, GO:0005886, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000118, GO:0000118, GO:0000118, mitotic spindle, transcription repressor complex, plasma membrane, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, histone deacetylase complex, histone deacetylase complex, histone deacetylase complex, GO:0051059, GO:0042826, GO:0033558, GO:0032041, GO:0030332, GO:0019899, GO:0008134, GO:0008134, GO:0005515, GO:0004407, GO:0004407, GO:0004407, GO:0003714, GO:0003714, GO:0003682, GO:0001226, NF-kappaB binding, histone deacetylase binding, protein deacetylase activity, NAD-dependent histone deacetylase activity (H3-K14 specific), cyclin binding, enzyme binding, transcription factor binding, transcription factor binding, protein binding, histone deacetylase activity, histone deacetylase activity, histone deacetylase activity, transcription corepressor activity, transcription corepressor activity, chromatin binding, RNA polymerase II transcription corepressor binding, GO:0120162, GO:0071498, GO:0070933, GO:0070932, GO:0051225, GO:0046329, GO:0045944, GO:0045944, GO:0045892, GO:0043066, GO:0042752, GO:0042307, GO:0032922, GO:0032008, GO:0031647, GO:0031398, GO:0019216, GO:0010832, GO:0007623, GO:0006476, GO:0006325, GO:0001934, GO:0000122, GO:0000122, positive regulation of cold-induced thermogenesis, cellular response to fluid shear stress, histone H4 deacetylation, histone H3 deacetylation, spindle assembly, negative regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of apoptotic process, regulation of circadian rhythm, positive regulation of protein import into nucleus, circadian regulation of gene expression, positive regulation of TOR signaling, regulation of protein stability, positive regulation of protein ubiquitination, regulation of lipid metabolic process, negative regulation of myotube differentiation, circadian rhythm, protein deacetylation, chromatin organization, positive regulation of protein phosphorylation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 331 307 311 327 381 332 306 244 248 ENSG00000171722 chr1 162373203 162376870 - SPATA46 protein_coding 284680 GO:0031965, GO:0031965, nuclear membrane, nuclear membrane, GO:0005515, protein binding, GO:0030154, GO:0009566, GO:0007342, GO:0007283, cell differentiation, fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, spermatogenesis, 0 0 1 0 0 0 0 0 1 ENSG00000171723 chr14 66507407 67181803 + GPHN protein_coding This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]. 10243 GO:0099634, GO:0099572, GO:0099144, GO:0097060, GO:0045211, GO:0045211, GO:0030425, GO:0030425, GO:0014069, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005737, postsynaptic specialization membrane, postsynaptic specialization, anchored component of synaptic membrane, synaptic membrane, postsynaptic membrane, postsynaptic membrane, dendrite, dendrite, postsynaptic density, plasma membrane, cytoskeleton, cytosol, cytosol, cytoplasm, GO:0061599, GO:0061598, GO:0046872, GO:0043546, GO:0042802, GO:0008940, GO:0005524, GO:0005515, molybdopterin molybdotransferase activity, molybdopterin adenylyltransferase activity, metal ion binding, molybdopterin cofactor binding, identical protein binding, nitrate reductase activity, ATP binding, protein binding, GO:0098970, GO:0097112, GO:0097112, GO:0097112, GO:0072579, GO:0055114, GO:0032324, GO:0032324, GO:0032324, GO:0032324, GO:0018315, GO:0010038, GO:0007529, GO:0006777, postsynaptic neurotransmitter receptor diffusion trapping, gamma-aminobutyric acid receptor clustering, gamma-aminobutyric acid receptor clustering, gamma-aminobutyric acid receptor clustering, glycine receptor clustering, oxidation-reduction process, molybdopterin cofactor biosynthetic process, molybdopterin cofactor biosynthetic process, molybdopterin cofactor biosynthetic process, molybdopterin cofactor biosynthetic process, molybdenum incorporation into molybdenum-molybdopterin complex, response to metal ion, establishment of synaptic specificity at neuromuscular junction, Mo-molybdopterin cofactor biosynthetic process, 9 3 6 26 7 16 17 7 16 ENSG00000171724 chr16 77788530 77980107 + VAT1L protein_coding 57687 GO:0016491, GO:0008270, GO:0005515, oxidoreductase activity, zinc ion binding, protein binding, GO:0055114, oxidation-reduction process, 0 0 0 0 0 0 1 0 0 ENSG00000171729 chr1 15152532 15220480 + TMEM51 protein_coding 55092 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 1 0 0 0 0 0 0 ENSG00000171735 chr1 6785324 7769706 + CAMTA1 protein_coding The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]. 23261 GO:0005829, GO:0005730, GO:0005634, cytosol, nucleolus, nucleus, GO:0043565, GO:0003712, GO:0003690, sequence-specific DNA binding, transcription coregulator activity, double-stranded DNA binding, GO:0070886, GO:0050885, GO:0045944, GO:0035307, GO:0006357, positive regulation of calcineurin-NFAT signaling cascade, neuromuscular process controlling balance, positive regulation of transcription by RNA polymerase II, positive regulation of protein dephosphorylation, regulation of transcription by RNA polymerase II, 34 8 47 51 57 63 31 23 36 ENSG00000171747 chr19 38801671 38813364 - LGALS4 protein_coding The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq, Jul 2008]. 3960 GO:0062023, GO:0005886, GO:0005829, GO:0005615, collagen-containing extracellular matrix, plasma membrane, cytosol, extracellular space, GO:0030246, GO:0016936, GO:0005515, carbohydrate binding, galactoside binding, protein binding, GO:0007155, cell adhesion, 1 2 0 5 2 0 1 2 0 ENSG00000171757 chr3 169793428 169812986 - LRRC34 protein_coding 151827 GO:0005737, GO:0005730, GO:0005575, cytoplasm, nucleolus, cellular_component, GO:0003674, molecular_function, GO:0030154, GO:0008150, cell differentiation, biological_process, 28 19 20 16 6 19 17 8 18 ENSG00000171759 chr12 102836885 102958410 - PAH protein_coding This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]. 5053 GO:0005829, cytosol, GO:0005506, GO:0004505, GO:0004505, iron ion binding, phenylalanine 4-monooxygenase activity, phenylalanine 4-monooxygenase activity, GO:0055114, GO:0042423, GO:0042136, GO:0008652, GO:0006571, GO:0006559, GO:0006559, oxidation-reduction process, catecholamine biosynthetic process, neurotransmitter biosynthetic process, cellular amino acid biosynthetic process, tyrosine biosynthetic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000171763 chr15 45402331 45421419 + SPATA5L1 protein_coding 79029 GO:0005737, cytoplasm, GO:0016887, GO:0005524, ATPase activity, ATP binding, 233 185 335 69 128 164 71 94 117 ENSG00000171766 chr15 45361124 45402327 - GATM protein_coding This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]. 2628 GO:0070062, GO:0005758, GO:0005758, GO:0005743, GO:0005739, GO:0005739, extracellular exosome, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0015068, GO:0015067, GO:0005515, glycine amidinotransferase activity, amidinotransferase activity, protein binding, GO:0120162, GO:0014889, GO:0007611, GO:0007275, GO:0006601, GO:0006601, GO:0006601, GO:0006600, GO:0006600, positive regulation of cold-induced thermogenesis, muscle atrophy, learning or memory, multicellular organism development, creatine biosynthetic process, creatine biosynthetic process, creatine biosynthetic process, creatine metabolic process, creatine metabolic process, 1 0 1 2 0 0 0 1 2 ENSG00000171772 chr10 133553901 133569835 - SYCE1 protein_coding This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 93426 GO:0043231, GO:0005829, GO:0005654, GO:0000801, GO:0000795, intracellular membrane-bounded organelle, cytosol, nucleoplasm, central element, synaptonemal complex, GO:0005515, protein binding, GO:0051301, GO:0007130, cell division, synaptonemal complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000171773 chr19 17455425 17460954 - NXNL1 protein_coding Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]. 115861 GO:0001750, photoreceptor outer segment, GO:0005515, protein binding, GO:0045494, photoreceptor cell maintenance, 0 0 0 0 0 0 0 0 0 ENSG00000171777 chr19 38409051 38426305 - RASGRP4 protein_coding The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]. 115727 GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005654, membrane, plasma membrane, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0030742, GO:0019992, GO:0005509, GO:0005085, GTP-dependent protein binding, diacylglycerol binding, calcium ion binding, guanyl-nucleotide exchange factor activity, GO:0046579, GO:0030099, GO:0009991, GO:0008283, GO:0008277, GO:0007264, GO:0007202, GO:0007169, GO:0000165, positive regulation of Ras protein signal transduction, myeloid cell differentiation, response to extracellular stimulus, cell population proliferation, regulation of G protein-coupled receptor signaling pathway, small GTPase mediated signal transduction, activation of phospholipase C activity, transmembrane receptor protein tyrosine kinase signaling pathway, MAPK cascade, 3748 3719 4557 2137 3565 2926 2432 2926 2717 ENSG00000171786 chr1 160367067 160372848 + NHLH1 protein_coding The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002]. 4807 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0030154, GO:0007417, GO:0006357, positive regulation of transcription by RNA polymerase II, cell differentiation, central nervous system development, regulation of transcription by RNA polymerase II, 11 6 11 27 35 41 33 13 25 ENSG00000171790 chr1 41015597 41023237 - SLFNL1 protein_coding 200172 GO:0005524, ATP binding, 1 0 1 5 1 11 2 0 2 ENSG00000171791 chr18 63123346 63320128 - BCL2 protein_coding This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 596 GO:0046930, GO:0043209, GO:0032991, GO:0031965, GO:0016020, GO:0005829, GO:0005789, GO:0005783, GO:0005741, GO:0005741, GO:0005741, GO:0005739, GO:0005737, GO:0005654, GO:0005634, pore complex, myelin sheath, protein-containing complex, nuclear membrane, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0070491, GO:0051721, GO:0051434, GO:0046982, GO:0046982, GO:0043565, GO:0042803, GO:0042802, GO:0031625, GO:0016248, GO:0015267, GO:0005515, GO:0002020, repressing transcription factor binding, protein phosphatase 2A binding, BH3 domain binding, protein heterodimerization activity, protein heterodimerization activity, sequence-specific DNA binding, protein homodimerization activity, identical protein binding, ubiquitin protein ligase binding, channel inhibitor activity, channel activity, protein binding, protease binding, GO:2001244, GO:2001243, GO:2001243, GO:2001240, GO:2001234, GO:2000811, GO:2000378, GO:2000134, GO:1902166, GO:1900740, GO:0098609, GO:0097192, GO:0072593, GO:0071456, GO:0070059, GO:0055085, GO:0051924, GO:0051902, GO:0051881, GO:0051607, GO:0051402, GO:0051384, GO:0050853, GO:0048873, GO:0048753, GO:0048743, GO:0048599, GO:0048546, GO:0048538, GO:0048536, GO:0048041, GO:0046902, GO:0046671, GO:0045636, GO:0045069, GO:0043583, GO:0043524, GO:0043375, GO:0043085, GO:0043066, GO:0043066, GO:0043066, GO:0043066, GO:0043029, GO:0042542, GO:0042493, GO:0042493, GO:0042149, GO:0042100, GO:0040018, GO:0035265, GO:0035094, GO:0034097, GO:0033689, GO:0033138, GO:0033077, GO:0033033, GO:0032848, GO:0032835, GO:0032469, GO:0031647, GO:0031103, GO:0031069, GO:0030890, GO:0030336, GO:0030318, GO:0030308, GO:0030307, GO:0030279, GO:0022898, GO:0022612, GO:0021747, GO:0019221, GO:0018107, GO:0018105, GO:0014911, GO:0014042, GO:0014031, GO:0010559, GO:0010523, GO:0010507, GO:0010468, GO:0010332, GO:0010224, GO:0010039, GO:0009791, GO:0009636, GO:0009314, GO:0008631, GO:0008630, GO:0008625, GO:0008584, GO:0008284, GO:0007569, GO:0007565, GO:0007409, GO:0007015, GO:0006974, GO:0006959, GO:0006915, GO:0006808, GO:0006582, GO:0006470, GO:0003014, GO:0002931, GO:0002326, GO:0002320, GO:0001952, GO:0001836, GO:0001836, GO:0001782, GO:0001662, GO:0001658, GO:0001656, GO:0001541, GO:0001503, GO:0000209, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of apoptotic signaling pathway, negative regulation of anoikis, negative regulation of reactive oxygen species metabolic process, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, cell-cell adhesion, extrinsic apoptotic signaling pathway in absence of ligand, reactive oxygen species metabolic process, cellular response to hypoxia, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, transmembrane transport, regulation of calcium ion transport, negative regulation of mitochondrial depolarization, regulation of mitochondrial membrane potential, defense response to virus, neuron apoptotic process, response to glucocorticoid, B cell receptor signaling pathway, homeostasis of number of cells within a tissue, pigment granule organization, positive regulation of skeletal muscle fiber development, oocyte development, digestive tract morphogenesis, thymus development, spleen development, focal adhesion assembly, regulation of mitochondrial membrane permeability, negative regulation of retinal cell programmed cell death, positive regulation of melanocyte differentiation, regulation of viral genome replication, ear development, negative regulation of neuron apoptotic process, CD8-positive, alpha-beta T cell lineage commitment, positive regulation of catalytic activity, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, T cell homeostasis, response to hydrogen peroxide, response to drug, response to drug, cellular response to glucose starvation, B cell proliferation, positive regulation of multicellular organism growth, organ growth, response to nicotine, response to cytokine, negative regulation of osteoblast proliferation, positive regulation of peptidyl-serine phosphorylation, T cell differentiation in thymus, negative regulation of myeloid cell apoptotic process, negative regulation of cellular pH reduction, glomerulus development, endoplasmic reticulum calcium ion homeostasis, regulation of protein stability, axon regeneration, hair follicle morphogenesis, positive regulation of B cell proliferation, negative regulation of cell migration, melanocyte differentiation, negative regulation of cell growth, positive regulation of cell growth, negative regulation of ossification, regulation of transmembrane transporter activity, gland morphogenesis, cochlear nucleus development, cytokine-mediated signaling pathway, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, positive regulation of smooth muscle cell migration, positive regulation of neuron maturation, mesenchymal cell development, regulation of glycoprotein biosynthetic process, negative regulation of calcium ion transport into cytosol, negative regulation of autophagy, regulation of gene expression, response to gamma radiation, response to UV-B, response to iron ion, post-embryonic development, response to toxic substance, response to radiation, intrinsic apoptotic signaling pathway in response to oxidative stress, intrinsic apoptotic signaling pathway in response to DNA damage, extrinsic apoptotic signaling pathway via death domain receptors, male gonad development, positive regulation of cell population proliferation, cell aging, female pregnancy, axonogenesis, actin filament organization, cellular response to DNA damage stimulus, humoral immune response, apoptotic process, regulation of nitrogen utilization, melanin metabolic process, protein dephosphorylation, renal system process, response to ischemia, B cell lineage commitment, lymphoid progenitor cell differentiation, regulation of cell-matrix adhesion, release of cytochrome c from mitochondria, release of cytochrome c from mitochondria, B cell homeostasis, behavioral fear response, branching involved in ureteric bud morphogenesis, metanephros development, ovarian follicle development, ossification, protein polyubiquitination, 131 73 172 273 72 286 311 102 211 ENSG00000171792 chr12 2876258 2889523 + RHNO1 protein_coding 83695 GO:0005694, GO:0005694, GO:0005654, GO:0005634, GO:0005634, chromosome, chromosome, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:1901796, GO:0071479, GO:0070318, GO:0034644, GO:0007049, GO:0006260, GO:0000725, GO:0000725, GO:0000077, GO:0000077, regulation of signal transduction by p53 class mediator, cellular response to ionizing radiation, positive regulation of G0 to G1 transition, cellular response to UV, cell cycle, DNA replication, recombinational repair, recombinational repair, DNA damage checkpoint, DNA damage checkpoint, 17 23 36 24 16 26 33 20 15 ENSG00000171793 chr1 40979335 41012565 + CTPS1 protein_coding This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 1503 GO:0097268, GO:0097268, GO:0016020, GO:0005829, GO:0005737, cytoophidium, cytoophidium, membrane, cytosol, cytoplasm, GO:0042802, GO:0042802, GO:0005524, GO:0005515, GO:0003883, GO:0003883, GO:0003883, GO:0003883, identical protein binding, identical protein binding, ATP binding, protein binding, CTP synthase activity, CTP synthase activity, CTP synthase activity, CTP synthase activity, GO:0044210, GO:0042493, GO:0042100, GO:0042098, GO:0019856, GO:0015949, GO:0006541, GO:0006241, GO:0006241, GO:0006241, GO:0006139, 'de novo' CTP biosynthetic process, response to drug, B cell proliferation, T cell proliferation, pyrimidine nucleobase biosynthetic process, nucleobase-containing small molecule interconversion, glutamine metabolic process, CTP biosynthetic process, CTP biosynthetic process, CTP biosynthetic process, nucleobase-containing compound metabolic process, 25 8 56 52 7 35 43 22 40 ENSG00000171794 chr10 133230274 133231558 + UTF1 protein_coding The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]. 8433 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:0045944, GO:0008584, GO:0006357, positive regulation of transcription by RNA polymerase II, male gonad development, regulation of transcription by RNA polymerase II, 0 0 1 0 2 0 0 0 0 ENSG00000171798 chr10 133160447 133226412 + KNDC1 protein_coding The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]. 85442 GO:0043204, GO:0043025, GO:0032045, GO:0030425, GO:0005575, perikaryon, neuronal cell body, guanyl-nucleotide exchange factor complex, dendrite, cellular_component, GO:0005085, GO:0003674, guanyl-nucleotide exchange factor activity, molecular_function, GO:0050773, GO:0048814, GO:0021707, GO:0008150, GO:0007264, GO:0001934, regulation of dendrite development, regulation of dendrite morphogenesis, cerebellar granule cell differentiation, biological_process, small GTPase mediated signal transduction, positive regulation of protein phosphorylation, 9 3 45 17 1 25 5 4 19 ENSG00000171804 chr19 37884823 37906677 - WDR87 protein_coding 83889 0 0 0 0 0 0 0 0 0 ENSG00000171806 chr1 169792529 169794966 - METTL18 protein_coding 92342 GO:0032991, protein-containing complex, GO:0031072, GO:0018064, GO:0005515, heat shock protein binding, protein-histidine N-methyltransferase activity, protein binding, GO:0042038, GO:0008150, peptidyl-histidine methylation, to form tele-methylhistidine, biological_process, 17 5 7 10 8 16 12 7 12 ENSG00000171811 chr10 132808392 132942823 - CFAP46 protein_coding 54777 GO:0005930, axoneme, GO:0060294, GO:0035082, cilium movement involved in cell motility, axoneme assembly, 3 4 1 1 0 4 5 0 0 ENSG00000171812 chr1 36095236 36125220 - COL8A2 protein_coding This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 1296 GO:0062023, GO:0062023, GO:0031012, GO:0031012, GO:0005788, GO:0005615, GO:0005604, GO:0005581, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, basement membrane, collagen trimer, extracellular region, GO:0030674, GO:0030020, GO:0005201, GO:0005201, protein-macromolecule adaptor activity, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0098609, GO:0050673, GO:0048593, GO:0030198, GO:0030198, GO:0030198, GO:0001525, cell-cell adhesion, epithelial cell proliferation, camera-type eye morphogenesis, extracellular matrix organization, extracellular matrix organization, extracellular matrix organization, angiogenesis, 1 3 2 6 3 10 5 5 2 ENSG00000171813 chr10 132397168 132417863 + PWWP2B protein_coding 170394 GO:0005654, nucleoplasm, GO:0005515, protein binding, 103 124 160 37 53 31 36 52 29 ENSG00000171815 chr5 141051135 141059344 + PCDHB1 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 29930 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000171817 chr19 37551406 37614097 + ZNF540 protein_coding 163255 GO:0043231, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, GO:0000900, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, translation repressor activity, mRNA regulatory element binding, GO:0045892, GO:0017148, GO:0006357, negative regulation of transcription, DNA-templated, negative regulation of translation, regulation of transcription by RNA polymerase II, 2 3 11 25 5 11 4 4 11 ENSG00000171819 chr1 11189341 11195981 + ANGPTL7 protein_coding 10218 GO:0062023, GO:0005615, GO:0005576, collagen-containing extracellular matrix, extracellular space, extracellular region, GO:0042802, GO:0005515, GO:0005102, identical protein binding, protein binding, signaling receptor binding, GO:1903053, GO:1901346, GO:0006979, GO:0001525, regulation of extracellular matrix organization, negative regulation of vasculature development involved in avascular cornea development in camera-type eye, response to oxidative stress, angiogenesis, 0 0 0 0 0 0 1 2 0 ENSG00000171823 chr12 1565993 1594165 - FBXL14 protein_coding Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 144699 GO:0019005, GO:0005829, GO:0005737, SCF ubiquitin ligase complex, cytosol, cytoplasm, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0043687, GO:0031146, GO:0006511, GO:0000209, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 36 30 68 41 41 66 39 41 41 ENSG00000171824 chr1 11066618 11099881 - EXOSC10 protein_coding 5394 GO:0035327, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000178, GO:0000176, GO:0000176, transcriptionally active chromatin, membrane, cytosol, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, exosome (RNase complex), nuclear exosome (RNase complex), nuclear exosome (RNase complex), GO:0070034, GO:0005515, GO:0004532, GO:0003727, GO:0003723, GO:0000175, GO:0000175, GO:0000175, GO:0000166, telomerase RNA binding, protein binding, exoribonuclease activity, single-stranded RNA binding, RNA binding, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, nucleotide binding, GO:1904872, GO:0071051, GO:0071048, GO:0071048, GO:0071044, GO:0071044, GO:0071040, GO:0071039, GO:0071038, GO:0071037, GO:0071036, GO:0071035, GO:0071035, GO:0071034, GO:0071028, GO:0032211, GO:0009048, GO:0006364, GO:0000956, GO:0000467, GO:0000460, GO:0000184, regulation of telomerase RNA localization to Cajal body, polyadenylation-dependent snoRNA 3'-end processing, nuclear retention of unspliced pre-mRNA at the site of transcription, nuclear retention of unspliced pre-mRNA at the site of transcription, histone mRNA catabolic process, histone mRNA catabolic process, nuclear polyadenylation-dependent antisense transcript catabolic process, nuclear polyadenylation-dependent CUT catabolic process, nuclear polyadenylation-dependent tRNA catabolic process, nuclear polyadenylation-dependent snRNA catabolic process, nuclear polyadenylation-dependent snoRNA catabolic process, nuclear polyadenylation-dependent rRNA catabolic process, nuclear polyadenylation-dependent rRNA catabolic process, CUT catabolic process, nuclear mRNA surveillance, negative regulation of telomere maintenance via telomerase, dosage compensation by inactivation of X chromosome, rRNA processing, nuclear-transcribed mRNA catabolic process, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of 5.8S rRNA, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 78 98 119 159 84 194 150 100 122 ENSG00000171827 chr19 37467585 37488652 + ZNF570 protein_coding 148268 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 17 2 18 24 19 21 19 11 12 ENSG00000171840 chr12 564296 663779 - NINJ2 protein_coding The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury. [provided by RefSeq, Oct 2011]. 4815 GO:0005887, integral component of plasma membrane, GO:0005515, protein binding, GO:0042246, GO:0007399, GO:0007158, GO:0007155, tissue regeneration, nervous system development, neuron cell-cell adhesion, cell adhesion, 290 293 322 96 287 160 156 265 126 ENSG00000171843 chr9 20341665 20622543 - MLLT3 protein_coding 4300 GO:0070062, GO:0008023, GO:0005829, GO:0005694, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, transcription elongation factor complex, cytosol, chromosome, nucleoplasm, nucleoplasm, nucleus, GO:0140030, GO:0070577, GO:0042393, GO:0005515, GO:0003682, GO:0003677, modification-dependent protein binding, lysine-acetylated histone binding, histone binding, protein binding, chromatin binding, DNA binding, GO:2000096, GO:2000035, GO:1902275, GO:0090090, GO:0090090, GO:0060218, GO:0045893, GO:0009952, GO:0007379, GO:0006368, GO:0006366, positive regulation of Wnt signaling pathway, planar cell polarity pathway, regulation of stem cell division, regulation of chromatin organization, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, hematopoietic stem cell differentiation, positive regulation of transcription, DNA-templated, anterior/posterior pattern specification, segment specification, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 21 16 54 63 19 90 70 27 57 ENSG00000171847 chr12 8221260 8227618 - FAM90A1 protein_coding FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]).[supplied by OMIM, Oct 2009]. 55138 GO:0005515, protein binding, 1 0 2 3 0 4 0 0 5 ENSG00000171848 chr2 10120698 10131419 + RRM2 protein_coding This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]. 6241 GO:0005971, GO:0005829, GO:0005829, GO:0005829, ribonucleoside-diphosphate reductase complex, cytosol, cytosol, cytosol, GO:0042803, GO:0008199, GO:0005515, GO:0004748, GO:0004748, GO:0004748, protein homodimerization activity, ferric iron binding, protein binding, ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor, ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor, ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor, GO:0070317, GO:0055114, GO:0051290, GO:0015949, GO:0009263, GO:0009263, GO:0006260, GO:0000083, negative regulation of G0 to G1 transition, oxidation-reduction process, protein heterotetramerization, nucleobase-containing small molecule interconversion, deoxyribonucleotide biosynthetic process, deoxyribonucleotide biosynthetic process, DNA replication, regulation of transcription involved in G1/S transition of mitotic cell cycle, 6 13 9 15 17 16 2 9 3 ENSG00000171853 chr2 3379675 3485094 + TRAPPC12 protein_coding 51112 GO:0048471, GO:0030008, GO:0005829, GO:0005794, GO:0005793, GO:0005654, GO:0005634, GO:0000776, perinuclear region of cytoplasm, TRAPP complex, cytosol, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, nucleoplasm, nucleus, kinetochore, GO:0005515, GO:0004175, protein binding, endopeptidase activity, GO:1905342, GO:0090234, GO:0051310, GO:0007030, GO:0006888, GO:0006508, positive regulation of protein localization to kinetochore, regulation of kinetochore assembly, metaphase plate congression, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, proteolysis, 181 180 218 110 126 78 111 142 151 ENSG00000171855 chr9 21077105 21077963 - IFNB1 protein_coding This gene encodes a cytokine that belongs to the interferon family of signaling proteins, which are released as part of the innate immune response to pathogens. The protein encoded by this gene belongs to the type I class of interferons, which are important for defense against viral infections. In addition, type I interferons are involved in cell differentiation and anti-tumor defenses. Following secretion in response to a pathogen, type I interferons bind a homologous receptor complex and induce transcription of genes such as those encoding inflammatory cytokines and chemokines. Overactivation of type I interferon secretion is linked to autoimmune diseases. Mice deficient for this gene display several phenotypes including defects in B cell maturation and increased susceptibility to viral infection. [provided by RefSeq, Sep 2015]. 3456 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008811, GO:0005515, GO:0005132, GO:0005132, GO:0005125, GO:0005125, chloramphenicol O-acetyltransferase activity, protein binding, type I interferon receptor binding, type I interferon receptor binding, cytokine activity, cytokine activity, GO:2001235, GO:2000552, GO:0071360, GO:0060337, GO:0060337, GO:0051607, GO:0045944, GO:0045581, GO:0045343, GO:0045089, GO:0045071, GO:0043330, GO:0043330, GO:0042100, GO:0042100, GO:0035458, GO:0033141, GO:0033141, GO:0030183, GO:0030101, GO:0019221, GO:0009615, GO:0007596, GO:0007166, GO:0006959, GO:0002323, GO:0002312, GO:0002286, GO:0002250, positive regulation of apoptotic signaling pathway, negative regulation of T-helper 2 cell cytokine production, cellular response to exogenous dsRNA, type I interferon signaling pathway, type I interferon signaling pathway, defense response to virus, positive regulation of transcription by RNA polymerase II, negative regulation of T cell differentiation, regulation of MHC class I biosynthetic process, positive regulation of innate immune response, negative regulation of viral genome replication, response to exogenous dsRNA, response to exogenous dsRNA, B cell proliferation, B cell proliferation, cellular response to interferon-beta, positive regulation of peptidyl-serine phosphorylation of STAT protein, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, natural killer cell activation, cytokine-mediated signaling pathway, response to virus, blood coagulation, cell surface receptor signaling pathway, humoral immune response, natural killer cell activation involved in immune response, B cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000171858 chr20 62387116 62388520 + RPS21 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6227 GO:0045202, GO:0042788, GO:0022627, GO:0022627, GO:0022627, GO:0022627, GO:0015935, GO:0005829, GO:0005791, GO:0005654, synapse, polysomal ribosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, small ribosomal subunit, cytosol, rough endoplasmic reticulum, nucleoplasm, GO:0047485, GO:0005515, GO:0003735, GO:0003723, protein N-terminus binding, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0002181, GO:0000461, GO:0000447, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, cytoplasmic translation, endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 215 120 276 506 271 589 323 253 445 ENSG00000171860 chr12 8058302 8066471 - C3AR1 protein_coding C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]. 719 GO:0035579, GO:0035577, GO:0005887, GO:0005886, GO:0005886, specific granule membrane, azurophil granule membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0004930, GO:0004930, GO:0004876, GO:0004876, GO:0004875, G protein-coupled receptor activity, G protein-coupled receptor activity, complement component C3a receptor activity, complement component C3a receptor activity, complement receptor activity, GO:0090023, GO:0051482, GO:0045766, GO:0043312, GO:0030449, GO:0010759, GO:0010575, GO:0008015, GO:0007204, GO:0007200, GO:0007186, GO:0006954, GO:0006935, GO:0002430, GO:0002430, positive regulation of neutrophil chemotaxis, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of angiogenesis, neutrophil degranulation, regulation of complement activation, positive regulation of macrophage chemotaxis, positive regulation of vascular endothelial growth factor production, blood circulation, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, chemotaxis, complement receptor mediated signaling pathway, complement receptor mediated signaling pathway, 405 517 1468 24 47 113 72 71 133 ENSG00000171861 chr17 782273 792509 + MRM3 protein_coding Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 55178 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0070039, GO:0042802, GO:0005515, GO:0003723, rRNA (guanosine-2'-O-)-methyltransferase activity, identical protein binding, protein binding, RNA binding, GO:0000451, rRNA 2'-O-methylation, 10 23 22 34 20 41 15 17 19 ENSG00000171862 chr10 87863113 87971930 + PTEN protein_coding This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]. 5728 GO:0045211, GO:0043220, GO:0043197, GO:0043005, GO:0042995, GO:0042995, GO:0035749, GO:0016605, GO:0016324, GO:0009898, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005576, postsynaptic membrane, Schmidt-Lanterman incisure, dendritic spine, neuron projection, cell projection, cell projection, myelin sheath adaxonal region, PML body, apical plasma membrane, cytoplasmic side of plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular region, GO:1990782, GO:1990381, GO:0106307, GO:0106306, GO:0051800, GO:0051800, GO:0051717, GO:0042802, GO:0035255, GO:0030165, GO:0019899, GO:0016314, GO:0016314, GO:0016314, GO:0010997, GO:0008289, GO:0008138, GO:0005515, GO:0005161, GO:0004725, GO:0004725, GO:0004722, GO:0004721, GO:0004438, protein tyrosine kinase binding, ubiquitin-specific protease binding, protein threonine phosphatase activity, protein serine phosphatase activity, phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity, phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity, inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity, identical protein binding, ionotropic glutamate receptor binding, PDZ domain binding, enzyme binding, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity, anaphase-promoting complex binding, lipid binding, protein tyrosine/serine/threonine phosphatase activity, protein binding, platelet-derived growth factor receptor binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, phosphatidylinositol-3-phosphatase activity, GO:2000808, GO:2000463, GO:2000272, GO:2000134, GO:2000060, GO:1990314, GO:1990090, GO:1904706, GO:1904668, GO:1903984, GO:1903690, GO:1902807, GO:1901017, GO:0097107, GO:0097105, GO:0090394, GO:0090344, GO:0090071, GO:0071456, GO:0071361, GO:0071257, GO:0070374, GO:0070373, GO:0061002, GO:0060997, GO:0060736, GO:0060292, GO:0060291, GO:0060179, GO:0060134, GO:0060074, GO:0060070, GO:0060044, GO:0060024, GO:0051898, GO:0051898, GO:0051896, GO:0051895, GO:0051548, GO:0051091, GO:0050821, GO:0050771, GO:0050765, GO:0050680, GO:0048870, GO:0048854, GO:0048853, GO:0048738, GO:0048681, GO:0048008, GO:0046856, GO:0046856, GO:0046856, GO:0046855, GO:0046685, GO:0046621, GO:0045792, GO:0045736, GO:0045666, GO:0045475, GO:0044320, GO:0043647, GO:0043542, GO:0043491, GO:0043066, GO:0042711, GO:0042493, GO:0035335, GO:0035176, GO:0033555, GO:0033198, GO:0033137, GO:0033032, GO:0032869, GO:0032535, GO:0032355, GO:0032286, GO:0032228, GO:0031647, GO:0031642, GO:0030534, GO:0030336, GO:0021955, GO:0021542, GO:0016579, GO:0016477, GO:0016311, GO:0014823, GO:0014067, GO:0014067, GO:0014065, GO:0010977, GO:0010975, GO:0010719, GO:0010666, GO:0010628, GO:0010043, GO:0009749, GO:0008285, GO:0008285, GO:0008285, GO:0008284, GO:0007626, GO:0007613, GO:0007611, GO:0007584, GO:0007568, GO:0007507, GO:0007417, GO:0007416, GO:0007270, GO:0006915, GO:0006661, GO:0006470, GO:0006470, GO:0006470, GO:0006367, GO:0002902, GO:0001933, GO:0001933, GO:0001525, negative regulation of synaptic vesicle clustering, positive regulation of excitatory postsynaptic potential, negative regulation of signaling receptor activity, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of ubiquitin-dependent protein catabolic process, cellular response to insulin-like growth factor stimulus, cellular response to nerve growth factor stimulus, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of ubiquitin protein ligase activity, positive regulation of TRAIL-activated apoptotic signaling pathway, negative regulation of wound healing, spreading of epidermal cells, negative regulation of cell cycle G1/S phase transition, negative regulation of potassium ion transmembrane transporter activity, postsynaptic density assembly, presynaptic membrane assembly, negative regulation of excitatory postsynaptic potential, negative regulation of cell aging, negative regulation of ribosome biogenesis, cellular response to hypoxia, cellular response to ethanol, cellular response to electrical stimulus, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of dendritic spine morphogenesis, dendritic spine morphogenesis, prostate gland growth, long-term synaptic depression, long-term synaptic potentiation, male mating behavior, prepulse inhibition, synapse maturation, canonical Wnt signaling pathway, negative regulation of cardiac muscle cell proliferation, rhythmic synaptic transmission, negative regulation of protein kinase B signaling, negative regulation of protein kinase B signaling, regulation of protein kinase B signaling, negative regulation of focal adhesion assembly, negative regulation of keratinocyte migration, positive regulation of DNA-binding transcription factor activity, protein stabilization, negative regulation of axonogenesis, negative regulation of phagocytosis, negative regulation of epithelial cell proliferation, cell motility, brain morphogenesis, forebrain morphogenesis, cardiac muscle tissue development, negative regulation of axon regeneration, platelet-derived growth factor receptor signaling pathway, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, response to arsenic-containing substance, negative regulation of organ growth, negative regulation of cell size, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of neuron differentiation, locomotor rhythm, cellular response to leptin stimulus, inositol phosphate metabolic process, endothelial cell migration, protein kinase B signaling, negative regulation of apoptotic process, maternal behavior, response to drug, peptidyl-tyrosine dephosphorylation, social behavior, multicellular organismal response to stress, response to ATP, negative regulation of peptidyl-serine phosphorylation, regulation of myeloid cell apoptotic process, cellular response to insulin stimulus, regulation of cellular component size, response to estradiol, central nervous system myelin maintenance, regulation of synaptic transmission, GABAergic, regulation of protein stability, negative regulation of myelination, adult behavior, negative regulation of cell migration, central nervous system neuron axonogenesis, dentate gyrus development, protein deubiquitination, cell migration, dephosphorylation, response to activity, negative regulation of phosphatidylinositol 3-kinase signaling, negative regulation of phosphatidylinositol 3-kinase signaling, phosphatidylinositol 3-kinase signaling, negative regulation of neuron projection development, regulation of neuron projection development, negative regulation of epithelial to mesenchymal transition, positive regulation of cardiac muscle cell apoptotic process, positive regulation of gene expression, response to zinc ion, response to glucose, negative regulation of cell population proliferation, negative regulation of cell population proliferation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, locomotory behavior, memory, learning or memory, response to nutrient, aging, heart development, central nervous system development, synapse assembly, neuron-neuron synaptic transmission, apoptotic process, phosphatidylinositol biosynthetic process, protein dephosphorylation, protein dephosphorylation, protein dephosphorylation, transcription initiation from RNA polymerase II promoter, regulation of B cell apoptotic process, negative regulation of protein phosphorylation, negative regulation of protein phosphorylation, angiogenesis, 10425 9462 12323 4186 6617 5826 5288 5435 5002 ENSG00000171863 chr2 3575205 3580920 + RPS7 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6201 GO:1990904, GO:0032991, GO:0032991, GO:0032040, GO:0022627, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005925, GO:0005840, GO:0005829, GO:0005813, GO:0005730, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, protein-containing complex, protein-containing complex, small-subunit processome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, focal adhesion, ribosome, cytosol, centrosome, nucleolus, nucleoplasm, nucleus, nucleus, GO:1990948, GO:0048027, GO:0019901, GO:0005515, GO:0003735, GO:0003730, GO:0003723, GO:0003723, ubiquitin ligase inhibitor activity, mRNA 5'-UTR binding, protein kinase binding, protein binding, structural constituent of ribosome, mRNA 3'-UTR binding, RNA binding, RNA binding, GO:2000059, GO:1904667, GO:1902255, GO:0050821, GO:0042274, GO:0042274, GO:0019083, GO:0010628, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0006364, GO:0006364, GO:0006364, GO:0000184, negative regulation of ubiquitin-dependent protein catabolic process, negative regulation of ubiquitin protein ligase activity, positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator, protein stabilization, ribosomal small subunit biogenesis, ribosomal small subunit biogenesis, viral transcription, positive regulation of gene expression, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, rRNA processing, rRNA processing, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 582 412 788 1073 547 1210 767 535 759 ENSG00000171864 chr20 4721910 4728460 + PRND protein_coding This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq, Jul 2008]. 23627 GO:0031362, GO:0031362, GO:0005886, GO:0005576, anchored component of external side of plasma membrane, anchored component of external side of plasma membrane, plasma membrane, extracellular region, GO:0005515, GO:0005507, GO:0005507, protein binding, copper ion binding, copper ion binding, GO:0051260, GO:0007340, GO:0006878, protein homooligomerization, acrosome reaction, cellular copper ion homeostasis, 0 0 0 0 1 0 0 0 0 ENSG00000171865 chr2 3544793 3558616 - RNASEH1 protein_coding This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017]. 246243 GO:0005737, cytoplasm, GO:0005515, GO:0004540, GO:0004523, GO:0004523, GO:0003723, GO:0003676, GO:0000287, protein binding, ribonuclease activity, RNA-DNA hybrid ribonuclease activity, RNA-DNA hybrid ribonuclease activity, RNA binding, nucleic acid binding, magnesium ion binding, GO:0090502, GO:0043137, GO:0006401, RNA phosphodiester bond hydrolysis, endonucleolytic, DNA replication, removal of RNA primer, RNA catabolic process, 36 20 50 31 29 32 26 25 31 ENSG00000171867 chr20 4686236 4701590 + PRNP protein_coding The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 5621 GO:0098794, GO:0070062, GO:0045121, GO:0045121, GO:0045121, GO:0043231, GO:0043195, GO:0031965, GO:0031362, GO:0030425, GO:0019898, GO:0016234, GO:0014069, GO:0014069, GO:0009986, GO:0009986, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005783, GO:0005737, GO:0005737, GO:0005634, postsynapse, extracellular exosome, membrane raft, membrane raft, membrane raft, intracellular membrane-bounded organelle, terminal bouton, nuclear membrane, anchored component of external side of plasma membrane, dendrite, extrinsic component of membrane, inclusion body, postsynaptic density, postsynaptic density, cell surface, cell surface, plasma membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, GO:1903136, GO:1903135, GO:0051087, GO:0044877, GO:0044877, GO:0044325, GO:0043008, GO:0042802, GO:0038023, GO:0031805, GO:0031802, GO:0031802, GO:0019828, GO:0015631, GO:0008017, GO:0005539, GO:0005521, GO:0005515, GO:0005509, GO:0005507, GO:0005507, GO:0002020, GO:0001540, GO:0001540, GO:0001540, GO:0001540, cuprous ion binding, cupric ion binding, chaperone binding, protein-containing complex binding, protein-containing complex binding, ion channel binding, ATP-dependent protein binding, identical protein binding, signaling receptor activity, type 8 metabotropic glutamate receptor binding, type 5 metabotropic glutamate receptor binding, type 5 metabotropic glutamate receptor binding, aspartic-type endopeptidase inhibitor activity, tubulin binding, microtubule binding, glycosaminoglycan binding, lamin binding, protein binding, calcium ion binding, copper ion binding, copper ion binding, protease binding, amyloid-beta binding, amyloid-beta binding, amyloid-beta binding, amyloid-beta binding, GO:1990535, GO:1905664, GO:1904646, GO:1904645, GO:1903078, GO:1902992, GO:1902951, GO:1902938, GO:1902430, GO:1901379, GO:1901216, GO:1900449, GO:1900272, GO:0097062, GO:0090647, GO:0090314, GO:0071280, GO:0070885, GO:0061098, GO:0051260, GO:0050860, GO:0050731, GO:0050730, GO:0046686, GO:0046007, GO:0043525, GO:0043433, GO:0043066, GO:0035690, GO:0035584, GO:0032703, GO:0032700, GO:0032689, GO:0032147, GO:0031648, GO:0010955, GO:0010951, GO:0007616, GO:0007611, GO:0007050, GO:0006979, GO:0006878, GO:0001933, neuron projection maintenance, regulation of calcium ion import across plasma membrane, cellular response to amyloid-beta, response to amyloid-beta, positive regulation of protein localization to plasma membrane, negative regulation of amyloid precursor protein catabolic process, negative regulation of dendritic spine maintenance, regulation of intracellular calcium activated chloride channel activity, negative regulation of amyloid-beta formation, regulation of potassium ion transmembrane transport, positive regulation of neuron death, regulation of glutamate receptor signaling pathway, negative regulation of long-term synaptic potentiation, dendritic spine maintenance, modulation of age-related behavioral decline, positive regulation of protein targeting to membrane, cellular response to copper ion, negative regulation of calcineurin-NFAT signaling cascade, positive regulation of protein tyrosine kinase activity, protein homooligomerization, negative regulation of T cell receptor signaling pathway, positive regulation of peptidyl-tyrosine phosphorylation, regulation of peptidyl-tyrosine phosphorylation, response to cadmium ion, negative regulation of activated T cell proliferation, positive regulation of neuron apoptotic process, negative regulation of DNA-binding transcription factor activity, negative regulation of apoptotic process, cellular response to drug, calcium-mediated signaling using intracellular calcium source, negative regulation of interleukin-2 production, negative regulation of interleukin-17 production, negative regulation of interferon-gamma production, activation of protein kinase activity, protein destabilization, negative regulation of protein processing, negative regulation of endopeptidase activity, long-term memory, learning or memory, cell cycle arrest, response to oxidative stress, cellular copper ion homeostasis, negative regulation of protein phosphorylation, 132 99 230 474 192 458 388 110 234 ENSG00000171872 chr1 44118850 44135140 + KLF17 protein_coding 128209 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000171873 chr20 4220631 4249074 - ADRA1D protein_coding Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]. 146 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0004937, GO:0004930, identical protein binding, protein binding, alpha1-adrenergic receptor activity, G protein-coupled receptor activity, GO:0150099, GO:0071880, GO:0045907, GO:0043410, GO:0008284, GO:0007267, GO:0007204, GO:0007200, GO:0007188, GO:0007186, GO:0001996, neuron-glial cell signaling, adenylate cyclase-activating adrenergic receptor signaling pathway, positive regulation of vasoconstriction, positive regulation of MAPK cascade, positive regulation of cell population proliferation, cell-cell signaling, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, positive regulation of heart rate by epinephrine-norepinephrine, 0 0 0 0 0 0 0 0 0 ENSG00000171877 chr15 43870761 44195252 - FRMD5 protein_coding 84978 GO:0016021, GO:0005912, GO:0005856, integral component of membrane, adherens junction, cytoskeleton, GO:0019901, GO:0008092, GO:0005515, GO:0005178, protein kinase binding, cytoskeletal protein binding, protein binding, integrin binding, GO:2000146, GO:0045785, GO:0031032, GO:0030334, negative regulation of cell motility, positive regulation of cell adhesion, actomyosin structure organization, regulation of cell migration, 0 0 0 0 0 0 1 0 1 ENSG00000171885 chr18 26852038 26865818 - AQP4 protein_coding This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]. 361 GO:0097450, GO:0042383, GO:0016323, GO:0016323, GO:0016021, GO:0010008, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005576, astrocyte end-foot, sarcolemma, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, endosome membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, extracellular region, GO:0015250, GO:0015250, GO:0015250, GO:0005515, water channel activity, water channel activity, water channel activity, protein binding, GO:0090660, GO:0071346, GO:0055085, GO:0051289, GO:0050891, GO:0030104, GO:0009992, GO:0006833, GO:0006833, GO:0006833, GO:0003091, cerebrospinal fluid circulation, cellular response to interferon-gamma, transmembrane transport, protein homotetramerization, multicellular organismal water homeostasis, water homeostasis, cellular water homeostasis, water transport, water transport, water transport, renal water homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000171889 chr9 21455642 21559669 - MIR31HG sense_overlapping This gene produces a long non-coding RNA that acts as a host gene for miR-31. This transcript may be involved in cellular pluripotency and regulate the differentiation of myoblasts and other tissues. This RNA was found to interact with Polycomb repressive proteins to repression transcription of genes involves in cell senescence. [provided by RefSeq, Dec 2017]. 554202 0 0 0 1 0 0 0 0 0 ENSG00000171903 chr19 15912367 15934867 - CYP4F11 protein_coding This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 57834 GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0102033, GO:0070330, GO:0050051, GO:0020037, GO:0016709, GO:0008391, GO:0005515, GO:0005506, GO:0005504, long-chain fatty acid omega-hydroxylase activity, aromatase activity, leukotriene-B4 20-monooxygenase activity, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, arachidonic acid monooxygenase activity, protein binding, iron ion binding, fatty acid binding, GO:0055114, GO:0042377, GO:0042377, GO:0042376, GO:0042376, GO:0042376, GO:0042361, GO:0042361, GO:0036101, GO:0031408, GO:0019369, GO:0019369, GO:0007596, GO:0006954, GO:0006631, oxidation-reduction process, vitamin K catabolic process, vitamin K catabolic process, phylloquinone catabolic process, phylloquinone catabolic process, phylloquinone catabolic process, menaquinone catabolic process, menaquinone catabolic process, leukotriene B4 catabolic process, oxylipin biosynthetic process, arachidonic acid metabolic process, arachidonic acid metabolic process, blood coagulation, inflammatory response, fatty acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000171914 chr15 62390526 62844631 + TLN2 protein_coding This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]. 83660 GO:0045202, GO:0015629, GO:0005925, GO:0005925, GO:0005886, GO:0005737, GO:0001726, synapse, actin cytoskeleton, focal adhesion, focal adhesion, plasma membrane, cytoplasm, ruffle, GO:0051015, GO:0005515, GO:0005200, GO:0005198, GO:0005178, GO:0003779, actin filament binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, integrin binding, actin binding, GO:0098609, GO:0007155, GO:0007043, GO:0007010, cell-cell adhesion, cell adhesion, cell-cell junction assembly, cytoskeleton organization, 0 0 0 0 0 2 11 2 7 ENSG00000171916 chr17 18476737 18494945 + LGALS9C protein_coding This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq, Jul 2008]. 654346 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0030246, GO:0016936, GO:0005515, carbohydrate binding, galactoside binding, protein binding, GO:2000562, GO:0032689, GO:0010628, negative regulation of CD4-positive, alpha-beta T cell proliferation, negative regulation of interferon-gamma production, positive regulation of gene expression, 115 61 109 94 99 96 127 73 111 ENSG00000171928 chr17 18780995 18806714 + TVP23B protein_coding 51030 GO:0030173, integral component of Golgi membrane, GO:0005515, protein binding, GO:0016192, GO:0009306, vesicle-mediated transport, protein secretion, 341 313 408 135 224 224 152 184 190 ENSG00000171931 chr17 18744024 18779349 + FBXW10 protein_coding Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 10517 GO:0005829, cytosol, GO:0043687, GO:0000209, post-translational protein modification, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000171936 chr19 15737985 15742343 + OR10H3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26532 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000171940 chr20 53567065 53609907 - ZNF217 protein_coding 7764 GO:0016607, GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0000118, nuclear speck, mitochondrion, nucleoplasm, nucleoplasm, nucleus, histone deacetylase complex, GO:0046872, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000978, GO:0000978, GO:0000976, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0006355, GO:0006355, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1415 1106 2882 557 745 715 635 566 616 ENSG00000171942 chr19 15728020 15729060 + OR10H2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26538 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000171943 chr1 121184810 121392822 + SRGAP2C protein_coding This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]. 653464 GO:0005737, cytoplasm, GO:0046982, GO:0042803, GO:0031267, protein heterodimerization activity, protein homodimerization activity, small GTPase binding, GO:2001224, GO:0061000, GO:0051490, GO:0030336, GO:0021816, positive regulation of neuron migration, negative regulation of dendritic spine development, negative regulation of filopodium assembly, negative regulation of cell migration, extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration, 161 267 248 150 326 254 180 253 205 ENSG00000171944 chr11 5128776 5138356 - OR52A5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390054 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000171951 chr2 223596940 223602503 - SCG2 protein_coding The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008]. 7857 GO:0098992, GO:0030141, GO:0005788, GO:0005615, GO:0005615, neuronal dense core vesicle, secretory granule, endoplasmic reticulum lumen, extracellular space, extracellular space, GO:0042056, GO:0042056, GO:0005515, GO:0005125, GO:0005125, chemoattractant activity, chemoattractant activity, protein binding, cytokine activity, cytokine activity, GO:2001237, GO:2000352, GO:0050930, GO:0050918, GO:0048245, GO:0048245, GO:0044267, GO:0043687, GO:0043542, GO:0035556, GO:0009306, GO:0006954, GO:0001938, GO:0001937, GO:0001525, GO:0001525, GO:0000165, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of endothelial cell apoptotic process, induction of positive chemotaxis, positive chemotaxis, eosinophil chemotaxis, eosinophil chemotaxis, cellular protein metabolic process, post-translational protein modification, endothelial cell migration, intracellular signal transduction, protein secretion, inflammatory response, positive regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, angiogenesis, angiogenesis, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000171953 chr17 17977409 18039209 - ATPAF2 protein_coding This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]. 91647 GO:0016607, GO:0005829, GO:0005739, nuclear speck, cytosol, mitochondrion, GO:0005515, protein binding, GO:0043461, proton-transporting ATP synthase complex assembly, 23 26 25 50 48 31 32 44 31 ENSG00000171954 chr19 15508493 15552317 + CYP4F22 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]. 126410 GO:0016021, GO:0005789, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0020037, GO:0016705, GO:0005515, GO:0005506, GO:0004497, GO:0004497, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, protein binding, iron ion binding, monooxygenase activity, monooxygenase activity, GO:0055114, GO:0046513, GO:0046513, GO:0006690, oxidation-reduction process, ceramide biosynthetic process, ceramide biosynthetic process, icosanoid metabolic process, 1 2 1 1 1 4 0 1 0 ENSG00000171956 chr15 60004222 60061730 + FOXB1 protein_coding 27023 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0061381, GO:0061379, GO:0061377, GO:0061374, GO:0061030, GO:0043524, GO:0033504, GO:0030901, GO:0030154, GO:0022029, GO:0021855, GO:0021794, GO:0021767, GO:0021510, GO:0009653, GO:0008542, GO:0007595, GO:0007412, GO:0006357, GO:0001756, GO:0001655, cell migration in diencephalon, inferior colliculus development, mammary gland lobule development, mammillothalamic axonal tract development, epithelial cell differentiation involved in mammary gland alveolus development, negative regulation of neuron apoptotic process, floor plate development, midbrain development, cell differentiation, telencephalon cell migration, hypothalamus cell migration, thalamus development, mammillary body development, spinal cord development, anatomical structure morphogenesis, visual learning, lactation, axon target recognition, regulation of transcription by RNA polymerase II, somitogenesis, urogenital system development, 0 0 0 0 0 0 0 0 0 ENSG00000171960 chr1 42658425 42676758 + PPIH protein_coding The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008]. 10465 GO:0071001, GO:0046540, GO:0043231, GO:0016607, GO:0005737, GO:0005737, GO:0005681, GO:0005654, U4/U6 snRNP, U4/U6 x U5 tri-snRNP complex, intracellular membrane-bounded organelle, nuclear speck, cytoplasm, cytoplasm, spliceosomal complex, nucleoplasm, GO:0043021, GO:0016018, GO:0016018, GO:0005515, GO:0003755, GO:0003755, ribonucleoprotein complex binding, cyclosporin A binding, cyclosporin A binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, GO:0065003, GO:0045070, GO:0006457, GO:0000413, GO:0000413, GO:0000398, GO:0000398, protein-containing complex assembly, positive regulation of viral genome replication, protein folding, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 10 14 11 25 15 38 17 10 16 ENSG00000171962 chr17 17972813 18016889 + DRC3 protein_coding 83450 GO:0031514, GO:0005930, GO:0005737, motile cilium, axoneme, cytoplasm, GO:0005515, protein binding, 17 19 14 14 25 27 35 26 10 ENSG00000171970 chr19 2900898 2918476 + ZNF57 protein_coding 126295 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 0 1 1 9 0 0 4 5 ENSG00000171984 chr20 5750393 5863912 + SHLD1 protein_coding 149840 GO:0035861, GO:0035861, GO:0005694, site of double-strand break, site of double-strand break, chromosome, GO:0005515, protein binding, GO:2001034, GO:2001034, GO:2000042, GO:2000042, GO:0045830, GO:0045830, GO:0006281, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of double-strand break repair via nonhomologous end joining, negative regulation of double-strand break repair via homologous recombination, negative regulation of double-strand break repair via homologous recombination, positive regulation of isotype switching, positive regulation of isotype switching, DNA repair, 6 8 11 19 11 30 19 18 6 ENSG00000171987 chr11 4571423 4577820 - C11orf40 protein_coding 143501 0 0 1 0 0 0 0 0 0 ENSG00000171988 chr10 63167221 63521850 - JMJD1C protein_coding The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 221037 GO:0005654, GO:0000785, GO:0000118, nucleoplasm, chromatin, histone deacetylase complex, GO:0051213, GO:0046966, GO:0046872, GO:0032454, GO:0032454, GO:0031490, GO:0005515, GO:0003712, dioxygenase activity, thyroid hormone receptor binding, metal ion binding, histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), chromatin DNA binding, protein binding, transcription coregulator activity, GO:0055114, GO:0033169, GO:0007596, GO:0006357, GO:0006355, oxidation-reduction process, histone H3-K9 demethylation, blood coagulation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 19921 20146 28053 7021 11342 12115 8700 8815 10426 ENSG00000171989 chr15 59206823 59208515 + LDHAL6B protein_coding 92483 GO:0005759, GO:0005634, mitochondrial matrix, nucleus, GO:0005515, GO:0004459, GO:0004459, protein binding, L-lactate dehydrogenase activity, L-lactate dehydrogenase activity, GO:0055114, GO:0006090, GO:0005975, oxidation-reduction process, pyruvate metabolic process, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000171992 chr5 150601080 150659220 + SYNPO protein_coding Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008]. 11346 GO:0098978, GO:0097444, GO:0043204, GO:0043197, GO:0030018, GO:0015629, GO:0015629, GO:0015629, GO:0014069, GO:0005923, GO:0005829, GO:0005634, GO:0001725, glutamatergic synapse, spine apparatus, perikaryon, dendritic spine, Z disc, actin cytoskeleton, actin cytoskeleton, actin cytoskeleton, postsynaptic density, bicellular tight junction, cytosol, nucleus, stress fiber, GO:0005515, GO:0003779, GO:0003779, protein binding, actin binding, actin binding, GO:1905355, GO:0099588, GO:0098886, GO:0098886, GO:0048169, GO:0032233, GO:0008542, spine apparatus assembly, positive regulation of postsynaptic cytosolic calcium concentration, modification of dendritic spine, modification of dendritic spine, regulation of long-term neuronal synaptic plasticity, positive regulation of actin filament bundle assembly, visual learning, 0 9 2 2 5 6 13 1 2 ENSG00000171999 chr11 4431323 4432277 - OR52P2P unitary_pseudogene 3 2 10 3 5 0 3 5 0 ENSG00000172000 chr19 2867335 2883445 + ZNF556 protein_coding 80032 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 2 0 0 2 0 0 11 ENSG00000172005 chr2 95025677 95053996 + MAL protein_coding The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]. 4118 GO:0120003, GO:0045121, GO:0044853, GO:0019898, GO:0016324, GO:0016021, GO:0005783, hinge region between urothelial plaques of apical plasma membrane, membrane raft, plasma membrane raft, extrinsic component of membrane, apical plasma membrane, integral component of membrane, endoplasmic reticulum, GO:0019911, GO:0019911, GO:0016505, GO:0008289, GO:0005515, structural constituent of myelin sheath, structural constituent of myelin sheath, peptidase activator activity involved in apoptotic process, lipid binding, protein binding, GO:1902043, GO:0098737, GO:0045176, GO:0042552, GO:0042552, GO:0042552, GO:0030154, GO:0007417, GO:0006915, GO:0002175, GO:0001766, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, protein insertion into plasma membrane, apical protein localization, myelination, myelination, myelination, cell differentiation, central nervous system development, apoptotic process, protein localization to paranode region of axon, membrane raft polarization, 15 2 18 125 26 63 82 31 49 ENSG00000172006 chr19 2819874 2835773 + ZNF554 protein_coding 115196 GO:0005730, GO:0005654, GO:0000785, nucleolus, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 19 7 29 21 15 31 39 21 34 ENSG00000172007 chr4 139453232 139476609 + RAB33B protein_coding This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]. 83452 GO:0005796, GO:0005794, GO:0005794, GO:0005768, GO:0000139, Golgi lumen, Golgi apparatus, Golgi apparatus, endosome, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:2000156, GO:1903434, GO:1903358, GO:0050678, GO:0048705, GO:0034067, GO:0034067, GO:0032482, GO:0015031, GO:0006891, GO:0001558, GO:0000045, regulation of retrograde vesicle-mediated transport, Golgi to ER, negative regulation of constitutive secretory pathway, regulation of Golgi organization, regulation of epithelial cell proliferation, skeletal system morphogenesis, protein localization to Golgi apparatus, protein localization to Golgi apparatus, Rab protein signal transduction, protein transport, intra-Golgi vesicle-mediated transport, regulation of cell growth, autophagosome assembly, 425 401 395 185 276 344 237 266 225 ENSG00000172009 chr19 2785460 2815807 + THOP1 protein_coding The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]. 7064 GO:0005829, GO:0005758, cytosol, mitochondrial intermembrane space, GO:0046872, GO:0042277, GO:0005515, GO:0004222, GO:0004222, metal ion binding, peptide binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:0006518, GO:0006508, GO:0000209, peptide metabolic process, proteolysis, protein polyubiquitination, 16 8 37 25 12 42 28 24 18 ENSG00000172014 chr9 64369394 64413142 + ANKRD20A4 protein_coding 0 0 0 0 0 0 3 0 0 ENSG00000172016 chr2 79157003 79159753 - REG3A protein_coding This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2014]. 5068 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0070492, GO:0042834, GO:0042802, GO:0038023, GO:0030246, GO:0005515, oligosaccharide binding, peptidoglycan binding, identical protein binding, signaling receptor activity, carbohydrate binding, protein binding, GO:0090303, GO:0061844, GO:0045617, GO:0044278, GO:0043434, GO:0019730, GO:0010838, GO:0008284, GO:0007157, GO:0006953, positive regulation of wound healing, antimicrobial humoral immune response mediated by antimicrobial peptide, negative regulation of keratinocyte differentiation, cell wall disruption in other organism, response to peptide hormone, antimicrobial humoral response, positive regulation of keratinocyte proliferation, positive regulation of cell population proliferation, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, acute-phase response, 0 0 0 0 0 0 0 0 0 ENSG00000172020 chr3 115623324 115721490 + GAP43 protein_coding The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2596 GO:0043204, GO:0032584, GO:0031527, GO:0030425, GO:0014069, GO:0005886, GO:0005886, GO:0005886, GO:0005737, perikaryon, growth cone membrane, filopodium membrane, dendrite, postsynaptic density, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:1901981, GO:0035727, GO:0005516, GO:0005515, GO:0001786, phosphatidylinositol phosphate binding, lysophosphatidic acid binding, calmodulin binding, protein binding, phosphatidylserine binding, GO:0051489, GO:0045165, GO:0042246, GO:0040008, GO:0031103, GO:0016198, GO:0010001, GO:0009611, GO:0007205, regulation of filopodium assembly, cell fate commitment, tissue regeneration, regulation of growth, axon regeneration, axon choice point recognition, glial cell differentiation, response to wounding, protein kinase C-activating G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172023 chr2 79085030 79088019 - REG1B protein_coding This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]. 5968 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0070492, GO:0042834, GO:0038023, oligosaccharide binding, peptidoglycan binding, signaling receptor activity, GO:0061844, GO:0044278, GO:0043434, GO:0008284, antimicrobial humoral immune response mediated by antimicrobial peptide, cell wall disruption in other organism, response to peptide hormone, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000172031 chr1 92029982 92063536 + EPHX4 protein_coding 253152 GO:0016021, integral component of membrane, GO:0016787, GO:0005515, hydrolase activity, protein binding, 0 0 0 3 3 3 0 1 0 ENSG00000172037 chr3 49121114 49133118 - LAMB2 protein_coding Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]. 3913 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0043260, GO:0043256, GO:0043083, GO:0031594, GO:0005788, GO:0005608, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, laminin-11 complex, laminin complex, synaptic cleft, neuromuscular junction, endoplasmic reticulum lumen, laminin-3 complex, basement membrane, extracellular region, GO:0005515, GO:0005201, GO:0005201, GO:0005201, GO:0005198, GO:0005178, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, extracellular matrix structural constituent, structural molecule activity, integrin binding, GO:0072274, GO:0072249, GO:0070831, GO:0060041, GO:0048677, GO:0044267, GO:0043687, GO:0034446, GO:0030198, GO:0016477, GO:0014044, GO:0014002, GO:0009888, GO:0009887, GO:0007601, GO:0007528, GO:0007411, metanephric glomerular basement membrane development, metanephric glomerular visceral epithelial cell development, basement membrane assembly, retina development in camera-type eye, axon extension involved in regeneration, cellular protein metabolic process, post-translational protein modification, substrate adhesion-dependent cell spreading, extracellular matrix organization, cell migration, Schwann cell development, astrocyte development, tissue development, animal organ morphogenesis, visual perception, neuromuscular junction development, axon guidance, 0 2 0 5 4 0 8 5 2 ENSG00000172046 chr3 49108046 49120938 - USP19 protein_coding Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]. 10869 GO:0016021, GO:0005829, GO:0005829, GO:0005789, integral component of membrane, cytosol, cytosol, endoplasmic reticulum membrane, GO:1990380, GO:0051879, GO:0046872, GO:0031625, GO:0008234, GO:0005515, GO:0004843, GO:0004843, Lys48-specific deubiquitinase activity, Hsp90 protein binding, metal ion binding, ubiquitin protein ligase binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1904292, GO:1901799, GO:1900037, GO:0090068, GO:0071108, GO:0050821, GO:0048642, GO:0034976, GO:0031647, GO:0030433, GO:0030433, GO:0016579, GO:0016579, GO:0016579, regulation of ERAD pathway, negative regulation of proteasomal protein catabolic process, regulation of cellular response to hypoxia, positive regulation of cell cycle process, protein K48-linked deubiquitination, protein stabilization, negative regulation of skeletal muscle tissue development, response to endoplasmic reticulum stress, regulation of protein stability, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein deubiquitination, protein deubiquitination, protein deubiquitination, 912 1245 1133 692 942 765 612 811 761 ENSG00000172053 chr3 49095932 49105135 - QARS protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 5859 GO:0032991, GO:0017101, GO:0017101, GO:0005829, GO:0005829, GO:0005829, GO:0005759, GO:0005737, protein-containing complex, aminoacyl-tRNA synthetase multienzyme complex, aminoacyl-tRNA synthetase multienzyme complex, cytosol, cytosol, cytosol, mitochondrial matrix, cytoplasm, GO:0019901, GO:0005524, GO:0005515, GO:0004860, GO:0004819, GO:0004819, GO:0004819, protein kinase binding, ATP binding, protein binding, protein kinase inhibitor activity, glutamine-tRNA ligase activity, glutamine-tRNA ligase activity, glutamine-tRNA ligase activity, GO:2001234, GO:0045892, GO:0032873, GO:0007420, GO:0006469, GO:0006425, GO:0006425, GO:0006418, negative regulation of apoptotic signaling pathway, negative regulation of transcription, DNA-templated, negative regulation of stress-activated MAPK cascade, brain development, negative regulation of protein kinase activity, glutaminyl-tRNA aminoacylation, glutaminyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 177 196 248 324 278 381 284 239 285 ENSG00000172057 chr17 39921041 39927601 - ORMDL3 protein_coding 94103 GO:0035579, GO:0035339, GO:0035339, GO:0030667, GO:0016021, GO:0005886, GO:0005783, specific granule membrane, SPOTS complex, SPOTS complex, secretory granule membrane, integral component of membrane, plasma membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:1900182, GO:1900060, GO:1900060, GO:0090156, GO:0043312, GO:0010508, GO:0010508, GO:0006672, GO:0006672, GO:0002903, positive regulation of protein localization to nucleus, negative regulation of ceramide biosynthetic process, negative regulation of ceramide biosynthetic process, cellular sphingolipid homeostasis, neutrophil degranulation, positive regulation of autophagy, positive regulation of autophagy, ceramide metabolic process, ceramide metabolic process, negative regulation of B cell apoptotic process, 154 178 300 172 133 283 197 156 164 ENSG00000172058 chr5 70900665 70918530 + SERF1A protein_coding This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008]. 8293 GO:0032991, GO:0005829, GO:0005634, protein-containing complex, cytosol, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1990000, GO:0031648, GO:0007399, amyloid fibril formation, protein destabilization, nervous system development, 0 0 4 0 2 4 0 1 11 ENSG00000172059 chr2 10042849 10054836 + KLF11 protein_coding The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]. 8462 GO:0016604, GO:0005925, GO:0005829, GO:0005654, GO:0005634, GO:0000785, GO:0000785, nuclear body, focal adhesion, cytosol, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901653, GO:0043065, GO:0008285, GO:0006915, GO:0006357, GO:0000122, GO:0000083, cellular response to peptide, positive regulation of apoptotic process, negative regulation of cell population proliferation, apoptotic process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, 74 113 133 193 215 355 214 154 213 ENSG00000172061 chr3 194355247 194369743 - LRRC15 protein_coding 131578 GO:0070062, GO:0062023, GO:0031012, GO:0016021, GO:0005615, extracellular exosome, collagen-containing extracellular matrix, extracellular matrix, integral component of membrane, extracellular space, GO:0043236, GO:0005518, GO:0001968, laminin binding, collagen binding, fibronectin binding, GO:1903077, GO:0046813, GO:0030335, negative regulation of protein localization to plasma membrane, receptor-mediated virion attachment to host cell, positive regulation of cell migration, 0 0 0 0 0 0 0 0 0 ENSG00000172062 chr5 70925030 70953942 + SMN1 protein_coding This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]. 6606 GO:0097504, GO:0097504, GO:0043204, GO:0043005, GO:0036464, GO:0034719, GO:0032797, GO:0032797, GO:0030424, GO:0030018, GO:0016604, GO:0015030, GO:0015030, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, Gemini of coiled bodies, Gemini of coiled bodies, perikaryon, neuron projection, cytoplasmic ribonucleoprotein granule, SMN-Sm protein complex, SMN complex, SMN complex, axon, Z disc, nuclear body, Cajal body, Cajal body, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0005515, GO:0003723, identical protein binding, protein binding, RNA binding, GO:0051170, GO:0007399, GO:0006353, GO:0000387, GO:0000387, GO:0000387, GO:0000245, GO:0000245, import into nucleus, nervous system development, DNA-templated transcription, termination, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal complex assembly, spliceosomal complex assembly, 0 0 7 0 0 6 0 6 7 ENSG00000172071 chr2 88556741 88627576 - EIF2AK3 protein_coding The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]. 9451 GO:0030176, GO:0022626, GO:0016020, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0005783, GO:0005737, integral component of endoplasmic reticulum membrane, cytosolic ribosome, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0106311, GO:0106310, GO:0042802, GO:0019903, GO:0019899, GO:0005524, GO:0005515, GO:0004694, GO:0004694, GO:0004694, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, identical protein binding, protein phosphatase binding, enzyme binding, ATP binding, protein binding, eukaryotic translation initiation factor 2alpha kinase activity, eukaryotic translation initiation factor 2alpha kinase activity, eukaryotic translation initiation factor 2alpha kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1902235, GO:1900182, GO:0070417, GO:0060734, GO:0048009, GO:0046777, GO:0046777, GO:0045943, GO:0042149, GO:0036499, GO:0036492, GO:0036492, GO:0034976, GO:0034198, GO:0032057, GO:0031642, GO:0031018, GO:0030968, GO:0030968, GO:0030282, GO:0019722, GO:0018105, GO:0017148, GO:0010998, GO:0010628, GO:0010575, GO:0007029, GO:0006983, GO:0006919, GO:0006468, GO:0002063, GO:0001525, GO:0001503, GO:0001501, regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, positive regulation of protein localization to nucleus, cellular response to cold, regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation, insulin-like growth factor receptor signaling pathway, protein autophosphorylation, protein autophosphorylation, positive regulation of transcription by RNA polymerase I, cellular response to glucose starvation, PERK-mediated unfolded protein response, eiF2alpha phosphorylation in response to endoplasmic reticulum stress, eiF2alpha phosphorylation in response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, cellular response to amino acid starvation, negative regulation of translational initiation in response to stress, negative regulation of myelination, endocrine pancreas development, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, bone mineralization, calcium-mediated signaling, peptidyl-serine phosphorylation, negative regulation of translation, regulation of translational initiation by eIF2 alpha phosphorylation, positive regulation of gene expression, positive regulation of vascular endothelial growth factor production, endoplasmic reticulum organization, ER overload response, activation of cysteine-type endopeptidase activity involved in apoptotic process, protein phosphorylation, chondrocyte development, angiogenesis, ossification, skeletal system development, 216 272 341 418 468 729 416 407 432 ENSG00000172073 chr2 88524651 88529584 + TEX37 protein_coding 200523 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000172081 chr19 2071038 2096673 - MOB3A protein_coding 126308 GO:0046872, metal ion binding, 6682 6423 11240 2484 4668 4386 3013 3509 3504 ENSG00000172086 chr2 88027205 88055729 - KRCC1 protein_coding 51315 GO:0005515, protein binding, 230 175 247 127 304 325 196 244 178 ENSG00000172113 chr3 48290722 48301685 - NME6 protein_coding Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010]. 10201 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0046872, GO:0005524, GO:0005515, GO:0004550, GO:0004550, metal ion binding, ATP binding, protein binding, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, GO:0045839, GO:0045839, GO:0030308, GO:0030308, GO:0006915, GO:0006241, GO:0006228, GO:0006183, GO:0006165, negative regulation of mitotic nuclear division, negative regulation of mitotic nuclear division, negative regulation of cell growth, negative regulation of cell growth, apoptotic process, CTP biosynthetic process, UTP biosynthetic process, GTP biosynthetic process, nucleoside diphosphate phosphorylation, 105 69 113 58 65 102 66 40 73 ENSG00000172115 chr7 25120091 25125361 - CYCS protein_coding This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]. 54205 GO:0070469, GO:0005829, GO:0005829, GO:0005829, GO:0005758, GO:0005758, GO:0005758, GO:0005743, GO:0005739, GO:0005739, GO:0005634, GO:0005634, GO:0000159, respirasome, cytosol, cytosol, cytosol, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleus, nucleus, protein phosphatase type 2A complex, GO:0046872, GO:0045155, GO:0020037, GO:0005515, GO:0004722, metal ion binding, electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity, heme binding, protein binding, protein serine/threonine phosphatase activity, GO:0045333, GO:0043280, GO:0034599, GO:0008635, GO:0007005, GO:0006915, GO:0006470, GO:0006123, GO:0006122, cellular respiration, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, cellular response to oxidative stress, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, mitochondrion organization, apoptotic process, protein dephosphorylation, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, ubiquinol to cytochrome c, 149 101 219 819 387 767 725 362 586 ENSG00000172116 chr2 86815339 86861924 - CD8B protein_coding The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010]. 926 GO:0042101, GO:0031901, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005576, T cell receptor complex, early endosome membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0042288, GO:0015026, GO:0005515, MHC class I protein binding, coreceptor activity, protein binding, GO:0050776, GO:0050690, GO:0042110, GO:0007169, GO:0006955, GO:0002250, regulation of immune response, regulation of defense response to virus by virus, T cell activation, transmembrane receptor protein tyrosine kinase signaling pathway, immune response, adaptive immune response, 12 19 74 67 52 210 43 41 226 ENSG00000172123 chr17 35411060 35433283 - SLFN12 protein_coding 55106 GO:0005515, protein binding, 70 101 57 80 144 45 92 86 36 ENSG00000172137 chr16 71358713 71390438 + CALB2 protein_coding This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]. 794 GO:0097060, GO:0045202, GO:0043195, GO:0043005, GO:0032437, GO:0032420, GO:0030425, GO:0005921, GO:0005829, GO:0005829, GO:0005634, synaptic membrane, synapse, terminal bouton, neuron projection, cuticular plate, stereocilium, dendrite, gap junction, cytosol, cytosol, nucleus, GO:0005509, calcium ion binding, GO:1900271, GO:0099509, GO:0051480, regulation of long-term synaptic potentiation, regulation of presynaptic cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, 0 0 0 0 0 0 0 0 0 ENSG00000172139 chr3 112140887 112294258 - SLC9C1 protein_coding SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009]. 285335 GO:0031514, GO:0016021, GO:0005886, motile cilium, integral component of membrane, plasma membrane, GO:0015386, GO:0015385, GO:0005216, potassium:proton antiporter activity, sodium:proton antiporter activity, ion channel activity, GO:1902600, GO:0098719, GO:0098656, GO:0071805, GO:0051453, GO:0030317, GO:0030154, GO:0007283, GO:0007275, proton transmembrane transport, sodium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, flagellated sperm motility, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000172146 chr17 3207539 3218896 + OR1A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 8383 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172148 chr19 14863714 14867358 - OR7A2P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000172150 chr17 3197519 3198448 + OR1A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26189 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0032467, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, positive regulation of cytokinesis, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172154 chr11 56093277 56094286 + OR8I2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 120586 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172155 chr1 152796751 152798181 + LCE1D protein_coding 353134 GO:0048471, GO:0005737, GO:0001533, perinuclear region of cytoplasm, cytoplasm, cornified envelope, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0071277, GO:0050890, GO:0031424, cellular response to calcium ion, cognition, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000172156 chr17 34285668 34288334 + CCL11 protein_coding This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014]. 6356 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0048020, GO:0048018, GO:0046983, GO:0031728, GO:0008009, GO:0008009, GO:0005515, CCR chemokine receptor binding, receptor ligand activity, protein dimerization activity, CCR3 chemokine receptor binding, chemokine activity, chemokine activity, protein binding, GO:0090647, GO:0071356, GO:0071347, GO:0071346, GO:0070670, GO:0070374, GO:0070371, GO:0070098, GO:0060763, GO:0060444, GO:0050768, GO:0048247, GO:0048245, GO:0048245, GO:0045766, GO:0043547, GO:0043547, GO:0035962, GO:0030838, GO:0030593, GO:0030335, GO:0019221, GO:0009615, GO:0009314, GO:0008360, GO:0007611, GO:0007186, GO:0007165, GO:0007155, GO:0007015, GO:0007010, GO:0006954, GO:0006935, GO:0006874, GO:0006468, GO:0002551, GO:0002548, GO:0002544, GO:0001938, modulation of age-related behavioral decline, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, response to interleukin-4, positive regulation of ERK1 and ERK2 cascade, ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, mammary duct terminal end bud growth, branching involved in mammary gland duct morphogenesis, negative regulation of neurogenesis, lymphocyte chemotaxis, eosinophil chemotaxis, eosinophil chemotaxis, positive regulation of angiogenesis, positive regulation of GTPase activity, positive regulation of GTPase activity, response to interleukin-13, positive regulation of actin filament polymerization, neutrophil chemotaxis, positive regulation of cell migration, cytokine-mediated signaling pathway, response to virus, response to radiation, regulation of cell shape, learning or memory, G protein-coupled receptor signaling pathway, signal transduction, cell adhesion, actin filament organization, cytoskeleton organization, inflammatory response, chemotaxis, cellular calcium ion homeostasis, protein phosphorylation, mast cell chemotaxis, monocyte chemotaxis, chronic inflammatory response, positive regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000172159 chr9 83242990 83538546 - FRMD3 protein_coding The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 257019 GO:0016021, GO:0005856, integral component of membrane, cytoskeleton, GO:0008092, GO:0005515, cytoskeletal protein binding, protein binding, GO:0031032, actomyosin structure organization, 6 17 27 3 12 15 17 13 13 ENSG00000172164 chr8 120535745 120813273 - SNTB1 protein_coding Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]. 6641 GO:0045202, GO:0042383, GO:0032991, GO:0016010, GO:0005925, GO:0005856, GO:0005737, GO:0005622, synapse, sarcolemma, protein-containing complex, dystrophin-associated glycoprotein complex, focal adhesion, cytoskeleton, cytoplasm, intracellular anatomical structure, GO:0030165, GO:0005516, GO:0005515, GO:0005198, GO:0003779, PDZ domain binding, calmodulin binding, protein binding, structural molecule activity, actin binding, GO:0006936, muscle contraction, 111 149 192 59 56 125 103 71 99 ENSG00000172167 chr8 120445400 120542133 + MTBP protein_coding This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]. 27085 GO:0000785, GO:0000776, GO:0000776, chromatin, kinetochore, kinetochore, GO:0045839, GO:0034501, GO:0034501, GO:0031396, GO:0008285, GO:0007089, GO:0007050, negative regulation of mitotic nuclear division, protein localization to kinetochore, protein localization to kinetochore, regulation of protein ubiquitination, negative regulation of cell population proliferation, traversing start control point of mitotic cell cycle, cell cycle arrest, 22 28 35 20 9 25 14 19 14 ENSG00000172171 chr17 30897336 30906820 - TEFM protein_coding 79736 GO:1990904, GO:0042645, GO:0005759, GO:0005739, ribonucleoprotein complex, mitochondrial nucleoid, mitochondrial matrix, mitochondrion, GO:0030337, GO:0008821, GO:0005515, GO:0003723, DNA polymerase processivity factor activity, crossover junction endodeoxyribonuclease activity, protein binding, RNA binding, GO:0006392, GO:0006390, GO:0006264, GO:0006259, GO:0006119, transcription elongation from mitochondrial promoter, mitochondrial transcription, mitochondrial DNA replication, DNA metabolic process, oxidative phosphorylation, 8 14 15 7 6 16 12 7 11 ENSG00000172172 chr8 120380761 120445402 - MRPL13 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 28998 GO:0005840, GO:0005762, GO:0005762, GO:0005762, GO:0005761, GO:0005743, GO:0005739, ribosome, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, GO:0003729, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, mRNA binding, RNA binding, GO:0070126, GO:0070125, GO:0017148, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, negative regulation of translation, translation, 11 6 25 25 21 32 27 6 6 ENSG00000172175 chr18 58671386 58754477 + MALT1 protein_coding This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]. 10892 GO:0048471, GO:0032991, GO:0032449, GO:0032449, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0002096, GO:0001650, perinuclear region of cytoplasm, protein-containing complex, CBM complex, CBM complex, cytosol, cytosol, cytoplasm, nucleus, polkadots, fibrillar center, GO:0043621, GO:0042802, GO:0019209, GO:0008233, GO:0005515, GO:0004842, GO:0004197, GO:0002020, protein self-association, identical protein binding, kinase activator activity, peptidase activity, protein binding, ubiquitin-protein transferase activity, cysteine-type endopeptidase activity, protease binding, GO:2000321, GO:0051168, GO:0051092, GO:0051092, GO:0050856, GO:0050852, GO:0050852, GO:0050852, GO:0045087, GO:0043280, GO:0043123, GO:0043066, GO:0042981, GO:0042113, GO:0042098, GO:0038095, GO:0032743, GO:0032731, GO:0031663, GO:0031398, GO:0016567, GO:0009620, GO:0007250, GO:0006952, GO:0006508, GO:0002726, GO:0002223, GO:0001923, positive regulation of T-helper 17 cell differentiation, nuclear export, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, T cell receptor signaling pathway, innate immune response, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, regulation of apoptotic process, B cell activation, T cell proliferation, Fc-epsilon receptor signaling pathway, positive regulation of interleukin-2 production, positive regulation of interleukin-1 beta production, lipopolysaccharide-mediated signaling pathway, positive regulation of protein ubiquitination, protein ubiquitination, response to fungus, activation of NF-kappaB-inducing kinase activity, defense response, proteolysis, positive regulation of T cell cytokine production, stimulatory C-type lectin receptor signaling pathway, B-1 B cell differentiation, 280 236 465 490 273 482 363 215 388 ENSG00000172179 chr6 22287244 22297501 - PRL protein_coding This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]. 5617 GO:0031904, GO:0030141, GO:0005615, GO:0005576, endosome lumen, secretory granule, extracellular space, extracellular region, GO:0005515, GO:0005179, GO:0005148, protein binding, hormone activity, prolactin receptor binding, GO:1903489, GO:1902895, GO:0060397, GO:0050679, GO:0046427, GO:0046427, GO:0045471, GO:0044267, GO:0042698, GO:0042493, GO:0040014, GO:0033555, GO:0032496, GO:0032355, GO:0031667, GO:0030879, GO:0030278, GO:0016525, GO:0008284, GO:0007623, GO:0007595, GO:0007584, GO:0007567, GO:0007565, GO:0007166, GO:0001937, positive regulation of lactation, positive regulation of pri-miRNA transcription by RNA polymerase II, growth hormone receptor signaling pathway via JAK-STAT, positive regulation of epithelial cell proliferation, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of receptor signaling pathway via JAK-STAT, response to ethanol, cellular protein metabolic process, ovulation cycle, response to drug, regulation of multicellular organism growth, multicellular organismal response to stress, response to lipopolysaccharide, response to estradiol, response to nutrient levels, mammary gland development, regulation of ossification, negative regulation of angiogenesis, positive regulation of cell population proliferation, circadian rhythm, lactation, response to nutrient, parturition, female pregnancy, cell surface receptor signaling pathway, negative regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000172183 chr15 88636153 88656483 + ISG20 protein_coding 3669 GO:0016605, GO:0015030, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, PML body, Cajal body, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0034511, GO:0030620, GO:0030619, GO:0008859, GO:0008310, GO:0004527, GO:0004527, GO:0000175, metal ion binding, U3 snoRNA binding, U2 snRNA binding, U1 snRNA binding, exoribonuclease II activity, single-stranded DNA 3'-5' exodeoxyribonuclease activity, exonuclease activity, exonuclease activity, 3'-5'-exoribonuclease activity, GO:0090503, GO:0060337, GO:0051607, GO:0051607, GO:0045071, GO:0045071, GO:0009615, GO:0006401, GO:0006401, GO:0006364, GO:0000738, GO:0000738, RNA phosphodiester bond hydrolysis, exonucleolytic, type I interferon signaling pathway, defense response to virus, defense response to virus, negative regulation of viral genome replication, negative regulation of viral genome replication, response to virus, RNA catabolic process, RNA catabolic process, rRNA processing, DNA catabolic process, exonucleolytic, DNA catabolic process, exonucleolytic, 2919 4224 4524 2107 4200 3684 3358 3602 3202 ENSG00000172186 chrX 69174124 69174717 + HMGN1P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000172188 chr11 55602360 55607645 - OR4C11 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219429 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172197 chr6 20102145 20212399 - MBOAT1 protein_coding This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]. 154141 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0106263, GO:0106262, GO:0047184, GO:0016746, 1-acylglycerophosphoserine O-acyltransferase activity, 1-acylglycerophosphoethanolamine O-acyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, transferase activity, transferring acyl groups, GO:0036152, GO:0036152, GO:0036150, GO:0036150, GO:0030258, GO:0010975, GO:0008654, phosphatidylethanolamine acyl-chain remodeling, phosphatidylethanolamine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, lipid modification, regulation of neuron projection development, phospholipid biosynthetic process, 273 300 415 303 408 461 320 255 371 ENSG00000172199 chr11 56375624 56376553 + OR8U1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219417 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172201 chr6 19837386 19840684 + ID4 protein_coding This gene encodes a member of the inhibitor of DNA binding (ID) protein family. The encoded protein lacks DNA binding ability, and instead regulates gene expression through binding to and inhibiting basic helix-loop-helix transcription factors. This protein has been implicated in the regulation of diverse cellular processes that play a role in development and tumorigenesis. [provided by RefSeq, Aug 2017]. 3400 GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0140416, GO:0140110, GO:0046983, GO:0005515, GO:0001085, transcription regulator inhibitor activity, transcription regulator activity, protein dimerization activity, protein binding, RNA polymerase II transcription factor binding, GO:0061682, GO:0060741, GO:0060740, GO:0048715, GO:0048712, GO:0045944, GO:0045892, GO:0045665, GO:0045599, GO:0045444, GO:0034613, GO:0032922, GO:0030154, GO:0022010, GO:0021895, GO:0021766, GO:0008284, GO:0007405, GO:0001649, GO:0000122, GO:0000122, GO:0000082, seminal vesicle morphogenesis, prostate gland stromal morphogenesis, prostate gland epithelium morphogenesis, negative regulation of oligodendrocyte differentiation, negative regulation of astrocyte differentiation, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of neuron differentiation, negative regulation of fat cell differentiation, fat cell differentiation, cellular protein localization, circadian regulation of gene expression, cell differentiation, central nervous system myelination, cerebral cortex neuron differentiation, hippocampus development, positive regulation of cell population proliferation, neuroblast proliferation, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000172208 chr11 48245056 48246080 + OR4X2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 119764 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172209 chr7 107470018 107475659 + GPR22 protein_coding This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. [provided by RefSeq, Jul 2008]. 2845 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042277, GO:0004930, GO:0004930, peptide binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0030030, GO:0007186, cell projection organization, G protein-coupled receptor signaling pathway, 1 0 0 0 0 0 0 0 7 ENSG00000172215 chr3 45940933 45948353 + CXCR6 protein_coding The protein encoded by this gene is a G protein-coupled receptor with seven transmembrane domains that belongs to the CXC chemokine receptor family. This family also includes CXCR1, CXCR2, CXCR3, CXCR4, CXCR5, and CXCR7. This gene, which maps to the chemokine receptor gene cluster, is expressed in several T lymphocyte subsets and bone marrow stromal cells. The encoded protein and its exclusive ligand, chemokine ligand 16 (CCL16), are part of a signalling pathway that regulates T lymphocyte migration to various peripheral tissues (the liver, spleen red pulp, intestine, lungs, and skin) and promotes cell-cell interaction with dendritic cells and fibroblastic reticular cells. CXCR6/CCL16 also controls the localization of resident memory T lymphocytes to different compartments of the lung and maintains airway resident memory T lymphocytes, which are an important first line of defense against respiratory pathogens. The encoded protein serves as an entry coreceptor used by HIV-1 and SIV to enter target cells, in conjunction with CD4. [provided by RefSeq, Aug 2020]. 10663 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019958, GO:0019957, GO:0016494, GO:0016493, GO:0015026, GO:0004930, C-X-C chemokine binding, C-C chemokine binding, C-X-C chemokine receptor activity, C-C chemokine receptor activity, coreceptor activity, G protein-coupled receptor activity, GO:0070098, GO:0060326, GO:0019722, GO:0019079, GO:0007204, GO:0007186, GO:0006955, GO:0006954, chemokine-mediated signaling pathway, cell chemotaxis, calcium-mediated signaling, viral genome replication, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, inflammatory response, 9 22 23 10 4 4 20 9 18 ENSG00000172216 chr20 50190734 50192689 + CEBPB protein_coding This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013]. 1051 GO:0036488, GO:0016363, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000779, CHOP-C/EBP complex, nuclear matrix, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, condensed chromosome, centromeric region, GO:1990837, GO:0046982, GO:0044389, GO:0042826, GO:0042803, GO:0035259, GO:0035035, GO:0019900, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000981, GO:0000979, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein heterodimerization activity, ubiquitin-like protein ligase binding, histone deacetylase binding, protein homodimerization activity, glucocorticoid receptor binding, histone acetyltransferase binding, kinase binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001198, GO:2000120, GO:2000120, GO:1990440, GO:1901329, GO:0120162, GO:0097421, GO:0072574, GO:0071407, GO:0071347, GO:0071230, GO:0071222, GO:0070169, GO:0070169, GO:0070059, GO:0060644, GO:0050873, GO:0050729, GO:0045944, GO:0045893, GO:0045893, GO:0045670, GO:0045669, GO:0045600, GO:0045595, GO:0043524, GO:0042742, GO:0042130, GO:0034976, GO:0033598, GO:0032753, GO:0032675, GO:0030182, GO:0007613, GO:0006955, GO:0006954, GO:0006953, GO:0006357, GO:0006357, GO:0006355, GO:0001892, GO:0001541, GO:0000122, regulation of dendritic cell differentiation, positive regulation of sodium-dependent phosphate transport, positive regulation of sodium-dependent phosphate transport, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, regulation of odontoblast differentiation, positive regulation of cold-induced thermogenesis, liver regeneration, hepatocyte proliferation, cellular response to organic cyclic compound, cellular response to interleukin-1, cellular response to amino acid stimulus, cellular response to lipopolysaccharide, positive regulation of biomineral tissue development, positive regulation of biomineral tissue development, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, mammary gland epithelial cell differentiation, brown fat cell differentiation, positive regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of osteoclast differentiation, positive regulation of osteoblast differentiation, positive regulation of fat cell differentiation, regulation of cell differentiation, negative regulation of neuron apoptotic process, defense response to bacterium, negative regulation of T cell proliferation, response to endoplasmic reticulum stress, mammary gland epithelial cell proliferation, positive regulation of interleukin-4 production, regulation of interleukin-6 production, neuron differentiation, memory, immune response, inflammatory response, acute-phase response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, embryonic placenta development, ovarian follicle development, negative regulation of transcription by RNA polymerase II, 14220 13007 12878 10186 20533 17228 13021 21766 18735 ENSG00000172232 chr19 825097 832018 + AZU1 protein_coding Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]. 566 GO:0070062, GO:0043231, GO:0042582, GO:0042582, GO:0035578, GO:0035577, GO:0019898, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, intracellular membrane-bounded organelle, azurophil granule, azurophil granule, azurophil granule lumen, azurophil granule membrane, extrinsic component of membrane, extracellular space, extracellular region, extracellular region, GO:0043395, GO:0015643, GO:0008233, GO:0008201, GO:0005515, GO:0004252, heparan sulfate proteoglycan binding, toxic substance binding, peptidase activity, heparin binding, protein binding, serine-type endopeptidase activity, GO:0070944, GO:0070528, GO:0060326, GO:0051607, GO:0050930, GO:0050829, GO:0050766, GO:0048246, GO:0045860, GO:0045785, GO:0045348, GO:0045123, GO:0043312, GO:0043114, GO:0043066, GO:0042117, GO:0035584, GO:0032760, GO:0032731, GO:0032603, GO:0019730, GO:0010800, GO:0010628, GO:0008347, GO:0007205, GO:0006954, GO:0006508, GO:0001774, neutrophil-mediated killing of bacterium, protein kinase C signaling, cell chemotaxis, defense response to virus, induction of positive chemotaxis, defense response to Gram-negative bacterium, positive regulation of phagocytosis, macrophage chemotaxis, positive regulation of protein kinase activity, positive regulation of cell adhesion, positive regulation of MHC class II biosynthetic process, cellular extravasation, neutrophil degranulation, regulation of vascular permeability, negative regulation of apoptotic process, monocyte activation, calcium-mediated signaling using intracellular calcium source, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 beta production, fractalkine production, antimicrobial humoral response, positive regulation of peptidyl-threonine phosphorylation, positive regulation of gene expression, glial cell migration, protein kinase C-activating G protein-coupled receptor signaling pathway, inflammatory response, proteolysis, microglial cell activation, 0 0 0 0 0 0 0 0 0 ENSG00000172236 chr16 1240696 1242554 + TPSAB1 protein_coding Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]. 7177 GO:0062023, GO:0005615, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, extracellular space, extracellular space, extracellular region, extracellular region, GO:0042802, GO:0008236, GO:0005515, GO:0004252, GO:0004252, identical protein binding, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0022617, GO:0022617, GO:0006952, GO:0006508, extracellular matrix disassembly, extracellular matrix disassembly, defense response, proteolysis, 0 0 0 0 0 0 0 0 3 ENSG00000172238 chr4 93828753 93830964 + ATOH1 protein_coding This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008]. 474 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0046983, GO:0031490, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, chromatin DNA binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045666, GO:0045609, GO:0043066, GO:0042668, GO:0042667, GO:0042472, GO:0030182, GO:0021987, GO:0007417, GO:0007411, GO:0007219, GO:0006366, GO:0006357, GO:0001764, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, positive regulation of inner ear auditory receptor cell differentiation, negative regulation of apoptotic process, auditory receptor cell fate determination, auditory receptor cell fate specification, inner ear morphogenesis, neuron differentiation, cerebral cortex development, central nervous system development, axon guidance, Notch signaling pathway, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000172239 chr5 43526267 43557758 - PAIP1 protein_coding The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. 10605 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0008494, GO:0008494, GO:0005515, GO:0003723, translation activator activity, translation activator activity, protein binding, RNA binding, GO:0048255, GO:0045727, GO:0006446, GO:0006413, mRNA stabilization, positive regulation of translation, regulation of translational initiation, translational initiation, 64 62 76 79 50 131 69 45 47 ENSG00000172243 chr12 10116777 10130258 - CLEC7A protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. 64581 GO:0016021, GO:0009986, GO:0009986, GO:0005886, GO:0005737, integral component of membrane, cell surface, cell surface, plasma membrane, cytoplasm, GO:0046872, GO:0042287, GO:0038187, GO:0038187, GO:0030246, GO:0005515, GO:0001872, GO:0001872, GO:0001872, metal ion binding, MHC protein binding, pattern recognition receptor activity, pattern recognition receptor activity, carbohydrate binding, protein binding, (1->3)-beta-D-glucan binding, (1->3)-beta-D-glucan binding, (1->3)-beta-D-glucan binding, GO:1903431, GO:1900017, GO:1900017, GO:0090303, GO:0090303, GO:0071639, GO:0071226, GO:0071226, GO:0060267, GO:0051712, GO:0051712, GO:0051251, GO:0051251, GO:0050766, GO:0050766, GO:0045429, GO:0045087, GO:0043280, GO:0042832, GO:0042110, GO:0032930, GO:0032760, GO:0032757, GO:0032755, GO:0032743, GO:0032735, GO:0032733, GO:0032731, GO:0032729, GO:0032491, GO:0032491, GO:0031334, GO:0030335, GO:0030335, GO:0016046, GO:0016046, GO:0010628, GO:0009756, GO:0008284, GO:0008284, GO:0008037, GO:0006954, GO:0006910, GO:0006910, positive regulation of cell maturation, positive regulation of cytokine production involved in inflammatory response, positive regulation of cytokine production involved in inflammatory response, positive regulation of wound healing, positive regulation of wound healing, positive regulation of monocyte chemotactic protein-1 production, cellular response to molecule of fungal origin, cellular response to molecule of fungal origin, positive regulation of respiratory burst, positive regulation of killing of cells of other organism, positive regulation of killing of cells of other organism, positive regulation of lymphocyte activation, positive regulation of lymphocyte activation, positive regulation of phagocytosis, positive regulation of phagocytosis, positive regulation of nitric oxide biosynthetic process, innate immune response, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, defense response to protozoan, T cell activation, positive regulation of superoxide anion generation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-2 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, detection of molecule of fungal origin, detection of molecule of fungal origin, positive regulation of protein-containing complex assembly, positive regulation of cell migration, positive regulation of cell migration, detection of fungus, detection of fungus, positive regulation of gene expression, carbohydrate mediated signaling, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell recognition, inflammatory response, phagocytosis, recognition, phagocytosis, recognition, 7366 11462 10383 4225 11319 6372 4967 8352 5574 ENSG00000172244 chr5 43486701 43515145 - C5orf34 protein_coding 375444 2 0 0 8 8 9 10 4 35 ENSG00000172247 chr11 47589664 47594659 - C1QTNF4 protein_coding 114900 GO:0005615, extracellular space, GO:0005515, GO:0005125, GO:0003674, protein binding, cytokine activity, molecular_function, GO:1901224, GO:0070105, GO:0032760, GO:0032755, GO:0007165, positive regulation of NIK/NF-kappaB signaling, positive regulation of interleukin-6-mediated signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, signal transduction, 0 0 0 2 0 0 0 0 0 ENSG00000172250 chr22 42500579 42512560 + SERHL transcribed_unitary_pseudogene 94009 GO:0005575, cellular_component, GO:0016787, GO:0003674, hydrolase activity, molecular_function, GO:0008150, biological_process, 15 8 28 18 7 47 20 2 20 ENSG00000172260 chr1 71395940 72282734 - NEGR1 protein_coding 257194 GO:0031225, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, extracellular region, GO:0005515, protein binding, GO:0098609, GO:0010976, GO:0007631, GO:0007626, cell-cell adhesion, positive regulation of neuron projection development, feeding behavior, locomotory behavior, 4 0 0 3 0 7 5 1 0 ENSG00000172262 chr5 43065176 43192021 + ZNF131 protein_coding 7690 GO:0045111, GO:0005654, GO:0005654, GO:0005654, intermediate filament cytoskeleton, nucleoplasm, nucleoplasm, nucleoplasm, GO:0046872, GO:0001228, GO:0001227, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 565 418 670 525 325 505 558 243 357 ENSG00000172264 chr20 13995369 16053197 + MACROD2 protein_coding The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]. 140733 GO:0005730, GO:0005654, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0140293, GO:0140293, GO:0019213, GO:0016798, ADP-ribosylglutamate hydrolase activity, ADP-ribosylglutamate hydrolase activity, deacetylase activity, hydrolase activity, acting on glycosyl bonds, GO:0140291, GO:0140291, GO:0051725, GO:0042278, GO:0042278, GO:0009617, GO:0007420, GO:0006974, GO:0006974, peptidyl-glutamate ADP-deribosylation, peptidyl-glutamate ADP-deribosylation, protein de-ADP-ribosylation, purine nucleoside metabolic process, purine nucleoside metabolic process, response to bacterium, brain development, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, 1 0 0 0 8 0 0 3 7 ENSG00000172269 chr11 119096503 119108331 - DPAGT1 protein_coding The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]. 1798 GO:0043231, GO:0030176, GO:0030176, GO:0016021, GO:0016021, GO:0016020, GO:0005789, GO:0005789, intracellular membrane-bounded organelle, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, integral component of membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0046872, GO:0042802, GO:0016757, GO:0008963, GO:0005515, GO:0003976, GO:0003975, GO:0003975, GO:0003975, GO:0003975, metal ion binding, identical protein binding, transferase activity, transferring glycosyl groups, phospho-N-acetylmuramoyl-pentapeptide-transferase activity, protein binding, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity, UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity, UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity, UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity, UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity, GO:0019348, GO:0006489, GO:0006488, GO:0006488, GO:0006487, GO:0006047, dolichol metabolic process, dolichyl diphosphate biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, protein N-linked glycosylation, UDP-N-acetylglucosamine metabolic process, 60 49 59 38 51 80 55 43 78 ENSG00000172270 chr19 571277 583493 + BSG protein_coding The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]. 682 GO:0070062, GO:0045121, GO:0043231, GO:0042470, GO:0042383, GO:0030424, GO:0016323, GO:0016020, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005789, GO:0005768, GO:0005739, GO:0002080, GO:0001917, GO:0001750, GO:0000139, extracellular exosome, membrane raft, intracellular membrane-bounded organelle, melanosome, sarcolemma, axon, basolateral plasma membrane, membrane, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endosome, mitochondrion, acrosomal membrane, photoreceptor inner segment, photoreceptor outer segment, Golgi membrane, GO:0098632, GO:0045296, GO:0005537, GO:0005515, GO:0001618, cell-cell adhesion mediator activity, cadherin binding, mannose binding, protein binding, virus receptor activity, GO:0072659, GO:0072659, GO:0070593, GO:0051591, GO:0050900, GO:0046718, GO:0046697, GO:0046689, GO:0043434, GO:0042475, GO:0030593, GO:0030198, GO:0022617, GO:0007566, GO:0007411, GO:0007166, GO:0007156, GO:0006090, GO:0001525, protein localization to plasma membrane, protein localization to plasma membrane, dendrite self-avoidance, response to cAMP, leukocyte migration, viral entry into host cell, decidualization, response to mercury ion, response to peptide hormone, odontogenesis of dentin-containing tooth, neutrophil chemotaxis, extracellular matrix organization, extracellular matrix disassembly, embryo implantation, axon guidance, cell surface receptor signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, pyruvate metabolic process, angiogenesis, 2441 3470 2745 1033 2459 1170 1240 2293 1323 ENSG00000172273 chr11 119121587 119136044 + HINFP protein_coding This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]. 25988 GO:0015030, GO:0005730, GO:0005654, GO:0005634, GO:0000785, Cajal body, nucleolus, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0042393, GO:0019899, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001227, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, metal ion binding, histone binding, enzyme binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0048856, GO:0045944, GO:0045893, GO:0045892, GO:0045445, GO:0045184, GO:0010629, GO:0010628, GO:0010468, GO:0006357, GO:0006355, GO:0006351, GO:0006281, GO:0001701, GO:0000122, GO:0000083, GO:0000082, GO:0000077, anatomical structure development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, myoblast differentiation, establishment of protein localization, negative regulation of gene expression, positive regulation of gene expression, regulation of gene expression, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, transcription, DNA-templated, DNA repair, in utero embryonic development, negative regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, DNA damage checkpoint, 43 58 91 74 98 93 99 62 93 ENSG00000172283 chrY 25975549 25988069 + PRYP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000172288 chrY 25622162 25624902 + CDY1 protein_coding This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 9085 GO:0005634, GO:0005634, nucleus, nucleus, GO:0035064, GO:0004402, GO:0003714, methylated histone binding, histone acetyltransferase activity, transcription corepressor activity, GO:1903507, GO:0016573, GO:0007283, negative regulation of nucleic acid-templated transcription, histone acetylation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000172289 chr11 59712916 59713845 - OR10V1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390201 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 1 0 0 0 0 0 0 0 ENSG00000172292 chr2 168455862 168775137 + CERS6 protein_coding 253782 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0050291, GO:0050291, GO:0016410, GO:0005515, GO:0003677, sphingosine N-acyltransferase activity, sphingosine N-acyltransferase activity, N-acyltransferase activity, protein binding, DNA binding, GO:0046513, GO:0046513, GO:0030148, GO:0006954, ceramide biosynthetic process, ceramide biosynthetic process, sphingolipid biosynthetic process, inflammatory response, 117 77 83 151 45 124 112 62 83 ENSG00000172294 chrY 25478269 25483630 + CSPG4P4Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000172296 chr20 13008979 13169103 + SPTLC3 protein_coding This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017]. 55304 GO:0017059, GO:0017059, GO:0016021, GO:0005789, serine C-palmitoyltransferase complex, serine C-palmitoyltransferase complex, integral component of membrane, endoplasmic reticulum membrane, GO:0030170, GO:0005515, GO:0004758, GO:0004758, pyridoxal phosphate binding, protein binding, serine C-palmitoyltransferase activity, serine C-palmitoyltransferase activity, GO:0046520, GO:0046513, GO:0046512, GO:0030148, sphingoid biosynthetic process, ceramide biosynthetic process, sphingosine biosynthetic process, sphingolipid biosynthetic process, 0 1 0 0 0 0 6 0 0 ENSG00000172297 chrY 25454561 25460572 + GOLGA2P3Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000172301 chr17 31851864 31859337 - COPRS protein_coding 55352 GO:0005886, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, plasma membrane, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0042393, GO:0005515, histone binding, histone binding, protein binding, GO:0043985, GO:0043985, GO:0007517, histone H4-R3 methylation, histone H4-R3 methylation, muscle organ development, 4 9 7 20 31 17 13 9 13 ENSG00000172315 chr20 46684365 46689779 - TP53RK protein_coding 112858 GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000408, GO:0000408, cytoplasm, nucleoplasm, nucleus, nucleus, EKC/KEOPS complex, EKC/KEOPS complex, GO:0106311, GO:0106310, GO:0016787, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0002039, protein threonine kinase activity, protein serine kinase activity, hydrolase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, p53 binding, GO:1901796, GO:0070525, GO:0008033, GO:0006468, GO:0006468, regulation of signal transduction by p53 class mediator, tRNA threonylcarbamoyladenosine metabolic process, tRNA processing, protein phosphorylation, protein phosphorylation, 31 28 153 34 15 33 16 15 21 ENSG00000172318 chr2 167868948 167874041 + B3GALT1 protein_coding This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]. 8708 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0047275, GO:0008532, GO:0008499, GO:0008376, GO:0008375, glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0030311, GO:0030259, GO:0009312, GO:0006682, GO:0006486, GO:0006486, poly-N-acetyllactosamine biosynthetic process, lipid glycosylation, oligosaccharide biosynthetic process, galactosylceramide biosynthetic process, protein glycosylation, protein glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000172320 chr11 59436469 59451380 + OR5A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219982 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 1 0 1 0 0 0 0 ENSG00000172322 chr12 9951316 9995694 + CLEC12A protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]. 160364 GO:0070821, GO:0035579, GO:0016021, GO:0005886, tertiary granule membrane, specific granule membrane, integral component of membrane, plasma membrane, GO:0030246, GO:0005515, carbohydrate binding, protein binding, GO:0043312, neutrophil degranulation, 4313 4236 2622 2517 4339 2013 3135 4015 1937 ENSG00000172324 chr11 59416969 59426412 - OR5A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219981 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172331 chr7 134646808 134679813 + BPGM protein_coding 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]. 669 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0016787, GO:0005515, GO:0004619, GO:0004082, hydrolase activity, protein binding, phosphoglycerate mutase activity, bisphosphoglycerate mutase activity, GO:0061621, GO:0048821, GO:0007585, GO:0005975, canonical glycolysis, erythrocyte development, respiratory gaseous exchange by respiratory system, carbohydrate metabolic process, 75 36 71 35 106 92 82 79 88 ENSG00000172336 chr7 100706053 100707495 + POP7 protein_coding 10248 GO:0030681, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000172, multimeric ribonuclease P complex, cytoplasm, nucleolus, nucleoplasm, nucleus, ribonuclease MRP complex, GO:0033204, GO:0005515, GO:0004526, GO:0004526, GO:0003723, ribonuclease P RNA binding, protein binding, ribonuclease P activity, ribonuclease P activity, RNA binding, GO:0090502, GO:0008033, GO:0006364, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, tRNA processing, rRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, 15 19 9 26 15 42 34 14 38 ENSG00000172339 chr1 94974407 95072945 - ALG14 protein_coding This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]. 199857 GO:0043541, GO:0031965, GO:0016021, GO:0005789, UDP-N-acetylglucosamine transferase complex, nuclear membrane, integral component of membrane, endoplasmic reticulum membrane, GO:0006488, GO:0006488, dolichol-linked oligosaccharide biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, 1 1 4 2 2 0 10 3 6 ENSG00000172340 chr3 67360460 67654614 - SUCLG2 protein_coding This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]. 8801 GO:0045244, GO:0042709, GO:0005886, GO:0005759, GO:0005739, GO:0005739, succinate-CoA ligase complex (GDP-forming), succinate-CoA ligase complex, plasma membrane, mitochondrial matrix, mitochondrion, mitochondrion, GO:0044877, GO:0019003, GO:0005525, GO:0005524, GO:0005515, GO:0004776, GO:0004776, GO:0004775, GO:0000287, protein-containing complex binding, GDP binding, GTP binding, ATP binding, protein binding, succinate-CoA ligase (GDP-forming) activity, succinate-CoA ligase (GDP-forming) activity, succinate-CoA ligase (ADP-forming) activity, magnesium ion binding, GO:0006105, GO:0006104, GO:0006104, GO:0006099, GO:0006099, GO:0006099, succinate metabolic process, succinyl-CoA metabolic process, succinyl-CoA metabolic process, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, 29 23 58 90 39 182 103 47 106 ENSG00000172342 chrY 24186509 24191870 - CSPG4P3Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000172345 chr15 81309053 81324183 - STARD5 protein_coding Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]. 80765 GO:0005829, cytosol, GO:0120020, GO:0032052, GO:0015485, cholesterol transfer activity, bile acid binding, cholesterol binding, GO:0120009, GO:0070508, GO:0015721, intermembrane lipid transfer, cholesterol import, bile acid and bile salt transport, 631 684 965 302 616 602 488 584 477 ENSG00000172346 chr22 41560763 41577741 + CSDC2 protein_coding 27254 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0008134, GO:0005515, GO:0003730, GO:0003723, transcription factor binding, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0043488, GO:0006397, regulation of mRNA stability, mRNA processing, 14 27 33 12 28 12 15 17 45 ENSG00000172348 chr6 46220736 46491972 - RCAN2 protein_coding This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]. 10231 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0008597, GO:0003676, calcium-dependent protein serine/threonine phosphatase regulator activity, nucleic acid binding, GO:0070884, GO:0043666, GO:0019722, regulation of calcineurin-NFAT signaling cascade, regulation of phosphoprotein phosphatase activity, calcium-mediated signaling, 1 0 2 2 0 19 0 0 20 ENSG00000172349 chr15 81159575 81314058 + IL16 protein_coding The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. 3603 GO:0090543, GO:0016607, GO:0005886, GO:0005829, GO:0005829, GO:0005615, GO:0005576, Flemming body, nuclear speck, plasma membrane, cytosol, cytosol, extracellular space, extracellular region, GO:0042609, GO:0042609, GO:0005125, CD4 receptor binding, CD4 receptor binding, cytokine activity, GO:0051924, GO:0050930, GO:0050729, GO:0032755, GO:0032735, GO:0032730, GO:0030595, GO:0019221, GO:0016032, GO:0006955, regulation of calcium ion transport, induction of positive chemotaxis, positive regulation of inflammatory response, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, positive regulation of interleukin-1 alpha production, leukocyte chemotaxis, cytokine-mediated signaling pathway, viral process, immune response, 2495 2445 3785 996 1794 1591 1428 1831 1505 ENSG00000172350 chr11 119149012 119162653 + ABCG4 protein_coding The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]. 64137 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0046982, GO:0042803, GO:0042626, GO:0016887, GO:0005524, GO:0005515, protein heterodimerization activity, protein homodimerization activity, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, protein binding, GO:1990830, GO:0055085, GO:0033344, GO:0033344, cellular response to leukemia inhibitory factor, transmembrane transport, cholesterol efflux, cholesterol efflux, 0 0 0 0 0 0 0 0 0 ENSG00000172352 chrY 24045229 24048019 - CDY1B protein_coding This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 253175 GO:0005634, GO:0005634, nucleus, nucleus, GO:0035064, GO:0004402, GO:0003714, methylated histone binding, histone acetyltransferase activity, transcription corepressor activity, GO:1903507, GO:0016573, GO:0007283, negative regulation of nucleic acid-templated transcription, histone acetylation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000172354 chr7 100673531 100679174 + GNB2 protein_coding Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]. 2783 GO:0070062, GO:0048471, GO:0044297, GO:0031982, GO:0016020, GO:0005925, GO:0005886, GO:0005834, GO:0005829, GO:0005765, GO:0005737, GO:0005615, extracellular exosome, perinuclear region of cytoplasm, cell body, vesicle, membrane, focal adhesion, plasma membrane, heterotrimeric G-protein complex, cytosol, lysosomal membrane, cytoplasm, extracellular space, GO:0051020, GO:0044877, GO:0031682, GO:0005515, GO:0005246, GO:0003924, GTPase binding, protein-containing complex binding, G-protein gamma-subunit binding, protein binding, calcium channel regulator activity, GTPase activity, GO:0007186, GO:0006457, G protein-coupled receptor signaling pathway, protein folding, 8276 7374 9321 4243 6122 5106 4612 5531 4833 ENSG00000172361 chr18 50227193 50266522 - CFAP53 protein_coding This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]. 220136 GO:0005929, GO:0005576, GO:0005575, cilium, extracellular region, cellular_component, GO:0005515, protein binding, GO:0060287, GO:0060271, GO:0007368, GO:0003341, epithelial cilium movement involved in determination of left/right asymmetry, cilium assembly, determination of left/right symmetry, cilium movement, 11 6 7 4 9 13 11 5 6 ENSG00000172362 chr11 58439077 58442758 - OR5B12 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390191 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172365 chr11 58421264 58428121 - OR5B2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390190 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 1 ENSG00000172366 chr16 636817 648474 + MCRIP2 protein_coding 84331 GO:0010494, GO:0005737, GO:0005634, cytoplasmic stress granule, cytoplasm, nucleus, GO:0005515, protein binding, 14 21 23 17 21 34 41 11 36 ENSG00000172367 chr11 119185457 119190223 + PDZD3 protein_coding Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]. 79849 GO:0045177, GO:0043296, GO:0016324, GO:0005903, GO:0005829, apical part of cell, apical junction complex, apical plasma membrane, brush border, cytosol, GO:1990381, GO:0043495, GO:0030251, GO:0008200, GO:0008022, GO:0005515, ubiquitin-specific protease binding, protein-membrane adaptor activity, guanylate cyclase inhibitor activity, ion channel inhibitor activity, protein C-terminus binding, protein binding, GO:0072659, GO:0031283, GO:0010754, GO:0009636, GO:0007168, GO:0006833, GO:0006811, protein localization to plasma membrane, negative regulation of guanylate cyclase activity, negative regulation of cGMP-mediated signaling, response to toxic substance, receptor guanylyl cyclase signaling pathway, water transport, ion transport, 28 41 44 41 45 90 63 46 67 ENSG00000172375 chr11 119102198 119118544 + C2CD2L protein_coding 9854 GO:0140268, GO:0098592, GO:0032541, GO:0016021, GO:0005789, endoplasmic reticulum-plasma membrane contact site, cytoplasmic side of apical plasma membrane, cortical endoplasmic reticulum, integral component of membrane, endoplasmic reticulum membrane, GO:0043559, GO:0035091, GO:0008526, GO:0005515, insulin binding, phosphatidylinositol binding, phosphatidylinositol transfer activity, protein binding, GO:0120009, GO:0035774, GO:0015914, intermembrane lipid transfer, positive regulation of insulin secretion involved in cellular response to glucose stimulus, phospholipid transport, 290 410 393 278 514 328 235 366 325 ENSG00000172377 chr11 58116742 58125530 - OR9I1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219954 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172379 chr15 80404350 80597937 + ARNT2 protein_coding This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]. 9915 GO:0034751, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, aryl hydrocarbon receptor complex, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046982, GO:0046982, GO:0046982, GO:0044877, GO:0017162, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein heterodimerization activity, protein heterodimerization activity, protein heterodimerization activity, protein-containing complex binding, aryl hydrocarbon receptor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045893, GO:0043066, GO:0032355, GO:0008284, GO:0007420, GO:0007417, GO:0006805, GO:0006357, GO:0006355, GO:0001701, GO:0001666, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of apoptotic process, response to estradiol, positive regulation of cell population proliferation, brain development, central nervous system development, xenobiotic metabolic process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, in utero embryonic development, response to hypoxia, 0 0 0 0 0 0 5 1 0 ENSG00000172380 chr1 67701466 67833467 - GNG12 protein_coding 55970 GO:0070062, GO:0031680, GO:0005886, GO:0005884, GO:0005834, extracellular exosome, G-protein beta/gamma-subunit complex, plasma membrane, actin filament, heterotrimeric G-protein complex, GO:0042301, GO:0031681, GO:0030165, GO:0005515, phosphate ion binding, G-protein beta-subunit binding, PDZ domain binding, protein binding, GO:0032496, GO:0021987, GO:0007186, GO:0007165, response to lipopolysaccharide, cerebral cortex development, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 1 0 0 0 0 ENSG00000172382 chr16 2712418 2720551 - PRSS27 protein_coding This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 83886 GO:0005886, GO:0005576, plasma membrane, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 1 0 1 5 2 5 2 4 0 ENSG00000172399 chr4 119135784 119187789 + MYOZ2 protein_coding The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]. 51778 GO:0030018, GO:0030018, GO:0030018, GO:0030017, GO:0015629, Z disc, Z disc, Z disc, sarcomere, actin cytoskeleton, GO:0051373, GO:0031433, GO:0031433, GO:0030346, GO:0005515, GO:0003779, FATZ binding, telethonin binding, telethonin binding, protein phosphatase 2B binding, protein binding, actin binding, GO:0070885, GO:0045214, GO:0043503, GO:0008150, GO:0007519, GO:0000122, negative regulation of calcineurin-NFAT signaling cascade, sarcomere organization, skeletal muscle fiber adaptation, biological_process, skeletal muscle tissue development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000172403 chr4 118850688 119061247 + SYNPO2 protein_coding 171024 GO:0099023, GO:0043231, GO:0030018, GO:0030018, GO:0030018, GO:0015629, GO:0015629, GO:0005925, GO:0005925, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0001725, GO:0001725, vesicle tethering complex, intracellular membrane-bounded organelle, Z disc, Z disc, Z disc, actin cytoskeleton, actin cytoskeleton, focal adhesion, focal adhesion, cytosol, nucleoplasm, nucleus, nucleus, stress fiber, stress fiber, GO:0071889, GO:0051393, GO:0051371, GO:0031005, GO:0030674, GO:0005515, GO:0003779, 14-3-3 protein binding, alpha-actinin binding, muscle alpha-actinin binding, filamin binding, protein-macromolecule adaptor activity, protein binding, actin binding, GO:0061684, GO:0032233, GO:0000045, chaperone-mediated autophagy, positive regulation of actin filament bundle assembly, autophagosome assembly, 2 1 4 6 2 16 1 1 0 ENSG00000172404 chr22 40859549 40862126 - DNAJB7 protein_coding The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 2011]. 150353 GO:0051087, chaperone binding, 18 2 9 4 12 15 10 3 4 ENSG00000172409 chr11 57648992 57661868 + CLP1 protein_coding This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. 10978 GO:0005849, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000214, mRNA cleavage factor complex, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, tRNA-intron endonuclease complex, GO:0051736, GO:0051736, GO:0051733, GO:0051731, GO:0046404, GO:0005524, GO:0005515, ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity, ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity, polydeoxyribonucleotide kinase activity, polynucleotide 5'-hydroxyl-kinase activity, ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity, ATP binding, protein binding, GO:0035087, GO:0031124, GO:0030423, GO:0021695, GO:0016310, GO:0006396, GO:0006388, GO:0006388, GO:0006388, GO:0006388, GO:0006378, GO:0006369, GO:0000398, siRNA loading onto RISC involved in RNA interference, mRNA 3'-end processing, targeting of mRNA for destruction involved in RNA interference, cerebellar cortex development, phosphorylation, RNA processing, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 119 100 122 29 38 18 29 36 23 ENSG00000172410 chr1 66797741 66801256 - INSL5 protein_coding The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008]. 10022 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005515, GO:0005179, GO:0001664, protein binding, hormone activity, G protein-coupled receptor binding, GO:2000253, GO:0008150, GO:0007186, positive regulation of feeding behavior, biological_process, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172421 chr17 62343941 62416479 + EFCAB3 protein_coding 146779 GO:0005509, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000172425 chr11 118527472 118531197 + TTC36 protein_coding The protein encoded by this gene has three tetratricopeptide repeats and is a chaperone for heat shock protein 70. The encoded protein may function as a tumor suppressor in hepatocellular carcinoma (HCC) since it promotes apoptosis but is downregulated in HCC. [provided by RefSeq, Sep 2016]. 143941 GO:0060271, cilium assembly, 0 0 0 0 1 0 0 0 0 ENSG00000172426 chr6 43645046 43672599 + RSPH9 protein_coding This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]. 221421 GO:0097729, GO:0031514, GO:0031514, GO:0005930, GO:0005930, GO:0005930, GO:0005930, GO:0001534, 9+2 motile cilium, motile cilium, motile cilium, axoneme, axoneme, axoneme, axoneme, radial spoke, GO:0005515, protein binding, GO:1904158, GO:0062177, GO:0060294, GO:0044458, GO:0035082, GO:0035082, GO:0003341, axonemal central apparatus assembly, radial spoke assembly, cilium movement involved in cell motility, motile cilium assembly, axoneme assembly, axoneme assembly, cilium movement, 24 27 35 22 21 30 35 33 14 ENSG00000172428 chr2 240126563 240136807 - COPS9 protein_coding 150678 GO:0008180, GO:0008180, GO:0005737, GO:0005654, GO:0005634, GO:0000785, COP9 signalosome, COP9 signalosome, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0005515, protein binding, GO:2000435, GO:0034644, GO:0008284, negative regulation of protein neddylation, cellular response to UV, positive regulation of cell population proliferation, 29 34 66 20 46 67 22 26 30 ENSG00000172432 chr6 43605316 43629162 - GTPBP2 protein_coding GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]. 54676 GO:0043231, GO:0031093, GO:0005576, intracellular membrane-bounded organelle, platelet alpha granule lumen, extracellular region, GO:0042802, GO:0005525, GO:0005515, GO:0003924, GO:0003746, identical protein binding, GTP binding, protein binding, GTPase activity, translation elongation factor activity, GO:0072344, GO:0070966, GO:0008150, GO:0006414, GO:0002576, rescue of stalled ribosome, nuclear-transcribed mRNA catabolic process, no-go decay, biological_process, translational elongation, platelet degranulation, 562 601 843 424 605 611 504 474 551 ENSG00000172456 chr1 59296638 59810647 + FGGY protein_coding This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 55277 GO:0005575, cellular_component, GO:0019150, D-ribulokinase activity, GO:0070050, GO:0046835, GO:0019321, GO:0019321, neuron cellular homeostasis, carbohydrate phosphorylation, pentose metabolic process, pentose metabolic process, 54 45 48 15 84 46 40 33 30 ENSG00000172457 chr11 56741223 56748697 - OR9G4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 283189 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172458 chr13 20702127 20723098 + IL17D protein_coding The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq, Jul 2008]. 53342 GO:0005615, extracellular space, GO:0048018, GO:0042803, GO:0005125, receptor ligand activity, protein homodimerization activity, cytokine activity, GO:1903707, GO:1900017, GO:0032757, GO:0032755, GO:0032725, GO:0007165, GO:0006954, negative regulation of hemopoiesis, positive regulation of cytokine production involved in inflammatory response, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of granulocyte macrophage colony-stimulating factor production, signal transduction, inflammatory response, 0 0 0 1 0 0 0 0 0 ENSG00000172459 chr11 56663662 56664687 + OR5AR1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 219493 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005549, GO:0005507, GO:0004984, GO:0004930, odorant binding, copper ion binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172460 chr16 2839568 2842744 - PRSS30P transcribed_unitary_pseudogene 124221 0 0 2 3 0 0 0 1 11 ENSG00000172461 chr6 96015984 96215612 + FUT9 protein_coding The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011]. 10690 GO:0032588, GO:0016021, GO:0005802, GO:0005794, trans-Golgi network membrane, integral component of membrane, trans-Golgi network, Golgi apparatus, GO:0046920, GO:0046920, GO:0017083, GO:0017083, GO:0008417, GO:0005515, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, fucosyltransferase activity, protein binding, GO:1903236, GO:1903037, GO:0042355, GO:0036065, GO:0036065, GO:0033692, GO:0030182, GO:0010976, GO:0006486, GO:0006486, GO:0005975, regulation of leukocyte tethering or rolling, regulation of leukocyte cell-cell adhesion, L-fucose catabolic process, fucosylation, fucosylation, cellular polysaccharide biosynthetic process, neuron differentiation, positive regulation of neuron projection development, protein glycosylation, protein glycosylation, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000172464 chr11 56641466 56642471 - OR5AP2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 338675 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172465 chrX 103628704 103630953 + TCEAL1 protein_coding This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]. 9338 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0050699, WW domain binding, GO:0010629, negative regulation of gene expression, 0 2 8 9 1 23 2 4 19 ENSG00000172466 chr18 35332212 35345482 - ZNF24 protein_coding 7572 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0043565, GO:0043565, GO:0042802, GO:0005515, GO:0001228, GO:0000981, GO:0000978, metal ion binding, sequence-specific DNA binding, sequence-specific DNA binding, identical protein binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045892, GO:0042552, GO:0006357, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, myelination, regulation of transcription by RNA polymerase II, 2604 2359 2955 620 688 855 695 611 711 ENSG00000172468 chrY 18546671 18588963 + HSFY1 protein_coding This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 86614 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000172469 chr6 95577543 95609457 + MANEA protein_coding N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]. 79694 GO:0016021, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0004569, GO:0004559, glycoprotein endo-alpha-1,2-mannosidase activity, alpha-mannosidase activity, 15 7 18 57 14 45 28 3 16 ENSG00000172476 chrX 103499130 103519489 - RAB40A protein_coding This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010]. 142684 GO:0008021, GO:0005886, GO:0005768, synaptic vesicle, plasma membrane, endosome, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0072659, GO:0035556, GO:0016567, protein localization to plasma membrane, intracellular signal transduction, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000172478 chr2 240886048 240896889 - MAB21L4 protein_coding 79919 0 0 0 0 0 0 0 0 0 ENSG00000172482 chr2 240868479 240880502 + AGXT protein_coding This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]. 189 GO:0043231, GO:0005829, GO:0005782, GO:0005782, GO:0005777, GO:0005777, GO:0005759, intracellular membrane-bounded organelle, cytosol, peroxisomal matrix, peroxisomal matrix, peroxisome, peroxisome, mitochondrial matrix, GO:0043621, GO:0042803, GO:0042802, GO:0030170, GO:0030170, GO:0016597, GO:0008483, GO:0008453, GO:0008453, GO:0008453, GO:0005515, GO:0004760, protein self-association, protein homodimerization activity, identical protein binding, pyridoxal phosphate binding, pyridoxal phosphate binding, amino acid binding, transaminase activity, alanine-glyoxylate transaminase activity, alanine-glyoxylate transaminase activity, alanine-glyoxylate transaminase activity, protein binding, serine-pyruvate transaminase activity, GO:0051591, GO:0051384, GO:0046724, GO:0046487, GO:0042866, GO:0042853, GO:0034641, GO:0019448, GO:0019265, GO:0019265, GO:0009436, GO:0007219, GO:0006625, response to cAMP, response to glucocorticoid, oxalic acid secretion, glyoxylate metabolic process, pyruvate biosynthetic process, L-alanine catabolic process, cellular nitrogen compound metabolic process, L-cysteine catabolic process, glycine biosynthetic process, by transamination of glyoxylate, glycine biosynthetic process, by transamination of glyoxylate, glyoxylate catabolic process, Notch signaling pathway, protein targeting to peroxisome, 0 0 0 0 0 0 0 0 0 ENSG00000172487 chr11 56354291 56361511 + OR8J1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219477 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172489 chr11 56252200 56253222 + OR5T3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390154 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000172493 chr4 86935002 87141054 + AFF1 protein_coding This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. 4299 GO:0032783, GO:0008023, super elongation complex, transcription elongation factor complex, GO:0005515, protein binding, GO:0010468, regulation of gene expression, 3076 2743 4009 1652 2170 2398 2100 1542 2152 ENSG00000172497 chr5 81330005 81394179 - ACOT12 protein_coding 134526 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0052689, GO:0047617, GO:0042802, GO:0036042, GO:0008289, GO:0005524, GO:0005515, GO:0003986, GO:0003986, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, identical protein binding, long-chain fatty acyl-CoA binding, lipid binding, ATP binding, protein binding, acetyl-CoA hydrolase activity, acetyl-CoA hydrolase activity, GO:0006637, GO:0006637, GO:0006637, GO:0006631, GO:0006631, GO:0006084, acyl-CoA metabolic process, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, fatty acid metabolic process, acetyl-CoA metabolic process, 2 1 6 1 1 0 0 0 0 ENSG00000172500 chr11 65883741 65888539 - FIBP protein_coding Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9158 GO:0016607, GO:0016020, GO:0012505, GO:0005739, GO:0005634, GO:0005634, nuclear speck, membrane, endomembrane system, mitochondrion, nucleus, nucleus, GO:0017134, GO:0017134, fibroblast growth factor binding, fibroblast growth factor binding, GO:0070527, GO:0008543, platelet aggregation, fibroblast growth factor receptor signaling pathway, 37 44 29 63 54 54 36 59 69 ENSG00000172508 chr11 67414968 67425607 + CARNS1 protein_coding CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]. 57571 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0102102, GO:0047730, GO:0047730, GO:0046872, GO:0016887, GO:0005524, homocarnosine synthase activity, carnosine synthase activity, carnosine synthase activity, metal ion binding, ATPase activity, ATP binding, GO:0035499, GO:0006548, carnosine biosynthetic process, histidine catabolic process, 4 8 12 32 13 27 19 10 29 ENSG00000172519 chr19 15787661 15801025 + OR10H5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 284433 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000172530 chr16 87949244 88077318 + BANP protein_coding This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 54971 GO:0016604, GO:0005654, GO:0005654, nuclear body, nucleoplasm, nucleoplasm, GO:0005515, GO:0003677, protein binding, DNA binding, GO:1901796, GO:0045893, GO:0042177, GO:0034504, GO:0007275, GO:0007049, GO:0006325, regulation of signal transduction by p53 class mediator, positive regulation of transcription, DNA-templated, negative regulation of protein catabolic process, protein localization to nucleus, multicellular organism development, cell cycle, chromatin organization, 801 717 877 484 707 627 559 536 465 ENSG00000172531 chr11 67398183 67421183 - PPP1CA protein_coding The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). This broadly expressed gene encodes the alpha subunit of the PP1 complex that associates with over 200 regulatory proteins to form holoenzymes which dephosphorylate their biological targets with high specificity. PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies suggest that PP1 is an important regulator of cardiac function and that PP1 deregulation is implicated in diabetes and multiple types of cancer. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]. 5499 GO:0098793, GO:0072357, GO:0070062, GO:0043204, GO:0043197, GO:0042587, GO:0005912, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000781, GO:0000164, presynapse, PTW/PP1 phosphatase complex, extracellular exosome, perikaryon, dendritic spine, glycogen granule, adherens junction, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, nucleus, chromosome, telomeric region, protein phosphatase type 1 complex, GO:0106307, GO:0106306, GO:0098641, GO:0046872, GO:0043021, GO:0016791, GO:0008157, GO:0005515, GO:0004722, GO:0004722, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, cadherin binding involved in cell-cell adhesion, metal ion binding, ribonucleoprotein complex binding, phosphatase activity, protein phosphatase 1 binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, GO:2001241, GO:1904886, GO:0098609, GO:0070262, GO:0060828, GO:0051301, GO:0048754, GO:0043153, GO:0042752, GO:0036496, GO:0035970, GO:0032922, GO:0032091, GO:0030324, GO:0016311, GO:0016032, GO:0010288, GO:0007049, GO:0006470, GO:0006470, GO:0005981, GO:0005979, GO:0005977, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, beta-catenin destruction complex disassembly, cell-cell adhesion, peptidyl-serine dephosphorylation, regulation of canonical Wnt signaling pathway, cell division, branching morphogenesis of an epithelial tube, entrainment of circadian clock by photoperiod, regulation of circadian rhythm, regulation of translational initiation by eIF2 alpha dephosphorylation, peptidyl-threonine dephosphorylation, circadian regulation of gene expression, negative regulation of protein binding, lung development, dephosphorylation, viral process, response to lead ion, cell cycle, protein dephosphorylation, protein dephosphorylation, regulation of glycogen catabolic process, regulation of glycogen biosynthetic process, glycogen metabolic process, 1264 1200 1342 669 1049 751 757 924 751 ENSG00000172534 chrX 153947553 153971807 - HCFC1 protein_coding This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 3054 GO:0071339, GO:0070461, GO:0048188, GO:0043025, GO:0035097, GO:0032991, GO:0030425, GO:0030424, GO:0016020, GO:0005737, GO:0005671, GO:0005654, GO:0005634, GO:0000123, MLL1 complex, SAGA-type complex, Set1C/COMPASS complex, neuronal cell body, histone methyltransferase complex, protein-containing complex, dendrite, axon, membrane, cytoplasm, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, nucleus, histone acetyltransferase complex, GO:0045296, GO:0042802, GO:0033613, GO:0030674, GO:0005515, GO:0003713, GO:0003713, GO:0003682, GO:0000978, cadherin binding, identical protein binding, activating transcription factor binding, protein-macromolecule adaptor activity, protein binding, transcription coactivator activity, transcription coactivator activity, chromatin binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071407, GO:0050821, GO:0045944, GO:0045893, GO:0045787, GO:0043984, GO:0043982, GO:0043981, GO:0043254, GO:0019046, GO:0016579, GO:0010628, GO:0007049, GO:0007005, GO:0006355, GO:0006355, GO:0006338, GO:0001835, GO:0000122, cellular response to organic cyclic compound, protein stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of cell cycle, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, regulation of protein-containing complex assembly, release from viral latency, protein deubiquitination, positive regulation of gene expression, cell cycle, mitochondrion organization, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, chromatin remodeling, blastocyst hatching, negative regulation of transcription by RNA polymerase II, 205 211 332 198 146 224 187 129 115 ENSG00000172538 chr10 49131154 49134008 - FAM170B protein_coding 170370 GO:0002081, GO:0001669, GO:0001669, outer acrosomal membrane, acrosomal vesicle, acrosomal vesicle, GO:0005515, protein binding, GO:2000344, GO:0080154, GO:0009566, positive regulation of acrosome reaction, regulation of fertilization, fertilization, 0 1 0 3 1 0 0 2 0 ENSG00000172543 chr11 65879809 65883741 + CTSW protein_coding The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. [provided by RefSeq, Jul 2008]. 1521 GO:0031089, GO:0016020, GO:0005783, GO:0005764, GO:0005615, GO:0005576, platelet dense granule lumen, membrane, endoplasmic reticulum, lysosome, extracellular space, extracellular region, GO:0008234, GO:0004197, cysteine-type peptidase activity, cysteine-type endopeptidase activity, GO:0051603, GO:0006955, GO:0002576, proteolysis involved in cellular protein catabolic process, immune response, platelet degranulation, 22 25 122 56 105 401 45 104 308 ENSG00000172548 chr5 157460019 157474717 + NIPAL4 protein_coding This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]. 348938 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0015095, GO:0005515, magnesium ion transmembrane transporter activity, protein binding, GO:1903830, GO:0015693, magnesium ion transmembrane transport, magnesium ion transport, 3 6 13 5 4 19 10 8 17 ENSG00000172551 chr12 54830519 54858393 + MUCL1 protein_coding 118430 GO:0005886, GO:0005796, GO:0005576, plasma membrane, Golgi lumen, extracellular region, GO:0005515, protein binding, GO:0016266, GO:0002223, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172554 chr2 950868 1367613 + SNTG2 protein_coding This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]. 54221 GO:0042383, GO:0016013, GO:0016010, GO:0005856, GO:0005737, GO:0005622, sarcolemma, syntrophin complex, dystrophin-associated glycoprotein complex, cytoskeleton, cytoplasm, intracellular anatomical structure, GO:0097109, GO:0030165, GO:0005515, GO:0005198, GO:0003779, neuroligin family protein binding, PDZ domain binding, protein binding, structural molecule activity, actin binding, GO:0007417, central nervous system development, 2 0 0 0 0 0 0 0 0 ENSG00000172568 chr5 157341600 157345721 - FNDC9 protein_coding 408263 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1 0 0 0 0 2 0 0 2 ENSG00000172572 chr12 20369245 20684381 + PDE3A protein_coding This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 5139 GO:0016021, GO:0005829, GO:0005829, integral component of membrane, cytosol, cytosol, GO:0046872, GO:0005515, GO:0004119, GO:0004115, GO:0004114, metal ion binding, protein binding, cGMP-inhibited cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0071560, GO:0071321, GO:0060282, GO:0043951, GO:0043951, GO:0043117, GO:0043116, GO:0043066, GO:0019934, GO:0019934, GO:0019933, GO:0019933, GO:0007186, GO:0007165, GO:0006629, GO:0001556, cellular response to transforming growth factor beta stimulus, cellular response to cGMP, positive regulation of oocyte development, negative regulation of cAMP-mediated signaling, negative regulation of cAMP-mediated signaling, positive regulation of vascular permeability, negative regulation of vascular permeability, negative regulation of apoptotic process, cGMP-mediated signaling, cGMP-mediated signaling, cAMP-mediated signaling, cAMP-mediated signaling, G protein-coupled receptor signaling pathway, signal transduction, lipid metabolic process, oocyte maturation, 0 1 0 4 0 1 4 0 0 ENSG00000172575 chr15 38488103 38565575 - RASGRP1 protein_coding This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]. 10125 GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005789, GO:0000139, membrane, plasma membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum membrane, Golgi membrane, GO:0042802, GO:0031210, GO:0019992, GO:0008289, GO:0008270, GO:0005509, GO:0005085, GO:0005085, identical protein binding, phosphatidylcholine binding, diacylglycerol binding, lipid binding, zinc ion binding, calcium ion binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:1900744, GO:1900274, GO:0090630, GO:0090630, GO:0070374, GO:0070372, GO:0046579, GO:0046330, GO:0045954, GO:0043547, GO:0043406, GO:0042113, GO:0042110, GO:0042100, GO:0042098, GO:0032760, GO:0032729, GO:0032725, GO:0030154, GO:0030101, GO:0007265, GO:0007165, GO:0001934, GO:0001934, GO:0000165, regulation of p38MAPK cascade, regulation of phospholipase C activity, activation of GTPase activity, activation of GTPase activity, positive regulation of ERK1 and ERK2 cascade, regulation of ERK1 and ERK2 cascade, positive regulation of Ras protein signal transduction, positive regulation of JNK cascade, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of GTPase activity, positive regulation of MAP kinase activity, B cell activation, T cell activation, B cell proliferation, T cell proliferation, positive regulation of tumor necrosis factor production, positive regulation of interferon-gamma production, positive regulation of granulocyte macrophage colony-stimulating factor production, cell differentiation, natural killer cell activation, Ras protein signal transduction, signal transduction, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, MAPK cascade, 181 109 440 379 84 542 335 97 291 ENSG00000172578 chr3 183487531 183555689 - KLHL6 protein_coding This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 89857 GO:0005515, protein binding, GO:0050853, GO:0009617, GO:0002467, B cell receptor signaling pathway, response to bacterium, germinal center formation, 174 273 332 147 181 229 166 145 159 ENSG00000172586 chr10 73782047 73783652 + CHCHD1 protein_coding 118487 GO:0005829, GO:0005761, GO:0005743, GO:0005739, GO:0005739, GO:0005654, GO:0005654, GO:0001650, cytosol, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, nucleoplasm, fibrillar center, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 40 25 45 21 24 46 27 27 34 ENSG00000172590 chr14 22829879 22835037 + MRPL52 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]. 122704 GO:0005762, GO:0005762, GO:0005762, GO:0005743, GO:0005739, GO:0005654, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0003735, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0006412, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, translation, 46 22 33 81 36 37 53 47 53 ENSG00000172594 chr6 122789049 122809720 + SMPDL3A protein_coding 10924 GO:0070062, GO:0005615, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, extracellular space, GO:0008270, GO:0008081, GO:0008081, GO:0005515, GO:0004767, zinc ion binding, phosphoric diester hydrolase activity, phosphoric diester hydrolase activity, protein binding, sphingomyelin phosphodiesterase activity, GO:0009143, GO:0006685, nucleoside triphosphate catabolic process, sphingomyelin catabolic process, 8 1 22 6 6 11 0 7 1 ENSG00000172602 chr12 48857145 48865898 - RND1 protein_coding This gene encodes a protein that belongs to the Rho GTPase family. Members of this family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. A similar protein in rat interacts with a microtubule regulator to control axon extension. [provided by RefSeq, Apr 2014]. 27289 GO:0043231, GO:0043231, GO:0042995, GO:0031410, GO:0015629, GO:0005938, GO:0005912, GO:0005886, GO:0005886, GO:0005856, GO:0005829, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, actin cytoskeleton, cell cortex, adherens junction, plasma membrane, plasma membrane, cytoskeleton, cytosol, GO:0019901, GO:0005525, GO:0005515, GO:0005102, GO:0003924, GO:0003924, protein kinase binding, GTP binding, protein binding, signaling receptor binding, GTPase activity, GTPase activity, GO:0032956, GO:0030865, GO:0016477, GO:0016322, GO:0008360, GO:0007264, GO:0007163, GO:0007162, GO:0007015, GO:0007015, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, cell migration, neuron remodeling, regulation of cell shape, small GTPase mediated signal transduction, establishment or maintenance of cell polarity, negative regulation of cell adhesion, actin filament organization, actin filament organization, 0 0 0 6 2 24 2 3 15 ENSG00000172613 chr11 67317871 67398410 + RAD9A protein_coding This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 5883 GO:0030896, GO:0005737, GO:0005654, GO:0005654, GO:0005634, checkpoint clamp complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0042826, GO:0019901, GO:0019899, GO:0017124, GO:0008853, GO:0008408, GO:0008408, GO:0005515, histone deacetylase binding, protein kinase binding, enzyme binding, SH3 domain binding, exodeoxyribonuclease III activity, 3'-5' exonuclease activity, 3'-5' exonuclease activity, protein binding, GO:1902231, GO:1901796, GO:0090305, GO:0071479, GO:0071479, GO:0031573, GO:0006974, GO:0006281, GO:0006260, GO:0000077, GO:0000076, positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage, regulation of signal transduction by p53 class mediator, nucleic acid phosphodiester bond hydrolysis, cellular response to ionizing radiation, cellular response to ionizing radiation, intra-S DNA damage checkpoint, cellular response to DNA damage stimulus, DNA repair, DNA replication, DNA damage checkpoint, DNA replication checkpoint, 230 214 227 1549 1168 951 1410 817 660 ENSG00000172638 chr11 65866441 65873592 - EFEMP2 protein_coding A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]. 30008 GO:1903561, GO:0070062, GO:0062023, GO:0005604, GO:0005576, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, basement membrane, extracellular region, GO:0005515, GO:0005509, GO:0005201, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0048251, elastic fiber assembly, 33 41 53 19 49 47 27 25 41 ENSG00000172640 chr12 48202083 48203387 - OR10AD1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 121275 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 2 1 0 4 2 5 ENSG00000172650 chr10 73674285 73698159 - AGAP5 protein_coding 729092 GO:0005634, nucleus, GO:0046872, GO:0005096, metal ion binding, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 0 2 1 1 2 0 0 0 0 ENSG00000172661 chr10 45727200 45792961 + WASHC2C protein_coding 253725 GO:0071203, GO:0043231, GO:0031901, GO:0005886, GO:0005829, GO:0005769, GO:0005768, GO:0005730, WASH complex, intracellular membrane-bounded organelle, early endosome membrane, plasma membrane, cytosol, early endosome, endosome, nucleolus, GO:1905394, GO:1905394, GO:0080025, GO:0070273, GO:0043325, GO:0032266, GO:0010314, GO:0005547, GO:0005546, GO:0005515, retromer complex binding, retromer complex binding, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:2000813, GO:1990126, GO:1900024, GO:0042147, GO:0036010, GO:0015031, negative regulation of barbed-end actin filament capping, retrograde transport, endosome to plasma membrane, regulation of substrate adhesion-dependent cell spreading, retrograde transport, endosome to Golgi, protein localization to endosome, protein transport, 1169 1336 1522 1071 1430 1129 1053 1003 929 ENSG00000172663 chr11 67461710 67469272 - TMEM134 protein_coding 80194 GO:0048471, GO:0016021, perinuclear region of cytoplasm, integral component of membrane, GO:0005515, protein binding, GO:0016032, viral process, 40 29 65 78 78 93 72 45 69 ENSG00000172667 chr3 179017223 179072279 - ZMAT3 protein_coding This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]. 64393 GO:0005886, GO:0005730, GO:0005654, plasma membrane, nucleolus, nucleoplasm, GO:0008270, GO:0005515, GO:0003723, zinc ion binding, protein binding, RNA binding, GO:0043065, GO:0040008, GO:0015031, GO:0006974, GO:0006915, positive regulation of apoptotic process, regulation of growth, protein transport, cellular response to DNA damage stimulus, apoptotic process, 131 150 183 113 132 137 177 123 137 ENSG00000172671 chr10 45615501 45672780 - ZFAND4 protein_coding 93550 GO:0008270, zinc ion binding, 63 45 74 68 85 89 74 70 99 ENSG00000172673 chr6 127708072 127918631 - THEMIS protein_coding This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 387357 GO:0008180, GO:0005911, GO:0005737, GO:0005737, GO:0005634, GO:0005634, COP9 signalosome, cell-cell junction, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0050852, GO:0050852, GO:0043383, GO:0043368, GO:0002250, T cell receptor signaling pathway, T cell receptor signaling pathway, negative T cell selection, positive T cell selection, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000172680 chr8 56112942 56113982 - MOS protein_coding MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009]. 4342 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004709, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:1902103, GO:1902103, GO:0051296, GO:0046777, GO:0043410, GO:0007165, GO:0006325, GO:0000212, GO:0000187, GO:0000186, GO:0000165, negative regulation of metaphase/anaphase transition of meiotic cell cycle, negative regulation of metaphase/anaphase transition of meiotic cell cycle, establishment of meiotic spindle orientation, protein autophosphorylation, positive regulation of MAPK cascade, signal transduction, chromatin organization, meiotic spindle organization, activation of MAPK activity, activation of MAPKK activity, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000172687 chr19 21358930 21379302 + ZNF738 protein_coding 148203 GO:0005634, nucleus, GO:0004842, GO:0003677, ubiquitin-protein transferase activity, DNA binding, GO:0006355, GO:0000209, regulation of transcription, DNA-templated, protein polyubiquitination, 55 42 68 67 25 35 76 22 59 ENSG00000172689 chr11 60785348 60801305 + MS4A10 protein_coding Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]. 341116 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000172716 chr17 35350305 35373701 - SLFN11 protein_coding 91607 GO:0090734, GO:0005829, GO:0005654, GO:0005634, site of DNA damage, cytosol, nucleoplasm, nucleus, GO:0016887, GO:0005524, GO:0005515, GO:0004386, GO:0000049, GO:0000049, ATPase activity, ATP binding, protein binding, helicase activity, tRNA binding, tRNA binding, GO:2000134, GO:0051607, GO:0051607, GO:0043111, GO:0010942, GO:0008156, GO:0006974, negative regulation of G1/S transition of mitotic cell cycle, defense response to virus, defense response to virus, replication fork arrest, positive regulation of cell death, negative regulation of DNA replication, cellular response to DNA damage stimulus, 94 251 308 186 349 243 154 250 161 ENSG00000172717 chr14 67189393 67228550 + FAM71D protein_coding 161142 1 0 0 0 0 2 2 4 0 ENSG00000172724 chr9 34689567 34691277 - CCL19 protein_coding This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Sep 2014]. 6363 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0048020, GO:0042379, GO:0031735, GO:0031732, GO:0008009, GO:0008009, GO:0005515, CCR chemokine receptor binding, CCR chemokine receptor binding, chemokine receptor binding, CCR10 chemokine receptor binding, CCR7 chemokine receptor binding, chemokine activity, chemokine activity, protein binding, GO:2000669, GO:2000549, GO:2000147, GO:1901224, GO:0098586, GO:0097029, GO:0090023, GO:0071731, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070374, GO:0070374, GO:0070098, GO:0060491, GO:0051897, GO:0051209, GO:0050921, GO:0048469, GO:0048260, GO:0048247, GO:0046330, GO:0045860, GO:0045807, GO:0045627, GO:0043552, GO:0043547, GO:0043547, GO:0043123, GO:0042102, GO:0034695, GO:0032760, GO:0032735, GO:0032731, GO:0031295, GO:0030593, GO:0019221, GO:0010560, GO:0009615, GO:0007257, GO:0007186, GO:0007186, GO:0007154, GO:0006955, GO:0006954, GO:0006954, GO:0006874, GO:0002606, GO:0002548, GO:0002408, GO:0002407, GO:0001771, GO:0001768, negative regulation of dendritic cell apoptotic process, positive regulation of dendritic cell dendrite assembly, positive regulation of cell motility, positive regulation of NIK/NF-kappaB signaling, cellular response to virus, mature conventional dendritic cell differentiation, positive regulation of neutrophil chemotaxis, response to nitric oxide, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, regulation of cell projection assembly, positive regulation of protein kinase B signaling, release of sequestered calcium ion into cytosol, positive regulation of chemotaxis, cell maturation, positive regulation of receptor-mediated endocytosis, lymphocyte chemotaxis, positive regulation of JNK cascade, positive regulation of protein kinase activity, positive regulation of endocytosis, positive regulation of T-helper 1 cell differentiation, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of GTPase activity, positive regulation of GTPase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of T cell proliferation, response to prostaglandin E, positive regulation of tumor necrosis factor production, positive regulation of interleukin-12 production, positive regulation of interleukin-1 beta production, T cell costimulation, neutrophil chemotaxis, cytokine-mediated signaling pathway, positive regulation of glycoprotein biosynthetic process, response to virus, activation of JUN kinase activity, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell communication, immune response, inflammatory response, inflammatory response, cellular calcium ion homeostasis, positive regulation of dendritic cell antigen processing and presentation, monocyte chemotaxis, myeloid dendritic cell chemotaxis, dendritic cell chemotaxis, immunological synapse formation, establishment of T cell polarity, 0 0 1 0 0 0 0 0 0 ENSG00000172725 chr11 67435510 67443821 - CORO1B protein_coding Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]. 57175 GO:0071944, GO:0070062, GO:0048471, GO:0031252, GO:0030027, GO:0005925, GO:0005886, GO:0005884, GO:0005829, GO:0005737, GO:0001725, cell periphery, extracellular exosome, perinuclear region of cytoplasm, cell leading edge, lamellipodium, focal adhesion, plasma membrane, actin filament, cytosol, cytoplasm, stress fiber, GO:0071933, GO:0071933, GO:0051015, GO:0051015, GO:0051015, GO:0045296, GO:0042802, GO:0005515, Arp2/3 complex binding, Arp2/3 complex binding, actin filament binding, actin filament binding, actin filament binding, cadherin binding, identical protein binding, protein binding, GO:2000394, GO:1902463, GO:0090135, GO:0071672, GO:0051017, GO:0042060, GO:0036120, GO:0035767, GO:0035767, GO:0034316, GO:0034315, GO:0031529, GO:0030036, GO:0016477, GO:0016477, GO:0007015, positive regulation of lamellipodium morphogenesis, protein localization to cell leading edge, actin filament branching, negative regulation of smooth muscle cell chemotaxis, actin filament bundle assembly, wound healing, cellular response to platelet-derived growth factor stimulus, endothelial cell chemotaxis, endothelial cell chemotaxis, negative regulation of Arp2/3 complex-mediated actin nucleation, regulation of Arp2/3 complex-mediated actin nucleation, ruffle organization, actin cytoskeleton organization, cell migration, cell migration, actin filament organization, 341 453 352 243 445 258 261 354 238 ENSG00000172728 chr8 33370824 33473422 - FUT10 protein_coding 84750 GO:0032580, GO:0016021, GO:0005794, GO:0005794, GO:0005783, GO:0005654, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, nucleoplasm, GO:0046920, GO:0046920, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, GO:0097150, GO:0042355, GO:0042060, GO:0036065, GO:0030097, GO:0021799, GO:0009566, GO:0007399, GO:0006605, GO:0006486, GO:0006486, GO:0006457, neuronal stem cell population maintenance, L-fucose catabolic process, wound healing, fucosylation, hemopoiesis, cerebral cortex radially oriented cell migration, fertilization, nervous system development, protein targeting, protein glycosylation, protein glycosylation, protein folding, 50 27 29 47 29 48 42 18 28 ENSG00000172731 chr10 70298970 70382650 - LRRC20 protein_coding 55222 GO:0005515, protein binding, 0 0 3 2 0 5 4 2 0 ENSG00000172732 chr11 65857126 65867653 + MUS81 protein_coding This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]. 80198 GO:0048476, GO:0005730, GO:0005654, GO:0005634, Holliday junction resolvase complex, nucleolus, nucleoplasm, nucleus, GO:0048257, GO:0048257, GO:0046872, GO:0005515, GO:0003677, 3'-flap endonuclease activity, 3'-flap endonuclease activity, metal ion binding, protein binding, DNA binding, GO:0072429, GO:0036297, GO:0033687, GO:0031573, GO:0006281, GO:0000737, GO:0000727, GO:0000712, response to intra-S DNA damage checkpoint signaling, interstrand cross-link repair, osteoblast proliferation, intra-S DNA damage checkpoint, DNA repair, DNA catabolic process, endonucleolytic, double-strand break repair via break-induced replication, resolution of meiotic recombination intermediates, 109 106 151 168 187 181 166 174 185 ENSG00000172733 chr8 30995802 31033715 - PURG protein_coding The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016]. 29942 GO:0005634, nucleus, GO:0032422, GO:0003723, GO:0000981, GO:0000977, purine-rich negative regulatory element binding, RNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000172738 chr6 37212180 37258155 - TMEM217 protein_coding 221468 GO:0016021, GO:0005730, integral component of membrane, nucleolus, 13 9 12 8 1 10 10 6 6 ENSG00000172742 chr11 59511368 59520703 + OR4D9 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390199 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172746 chr1 26980165 26980975 + RPL12P13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000172748 chr8 232137 264703 + ZNF596 protein_coding 169270 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 6 20 8 29 18 58 12 20 37 ENSG00000172752 chr3 130345516 130484844 + COL6A5 protein_coding This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 256076 GO:0062023, GO:0062023, GO:0005581, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen trimer, extracellular region, extracellular region, GO:0030020, GO:0030020, GO:0030020, GO:0005515, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, GO:0007155, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000172757 chr11 65823022 65862026 - CFL1 protein_coding The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004]. 1072 GO:0070062, GO:0032587, GO:0031982, GO:0031258, GO:0030027, GO:0030027, GO:0016363, GO:0016020, GO:0015629, GO:0005925, GO:0005925, GO:0005911, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005615, extracellular exosome, ruffle membrane, vesicle, lamellipodium membrane, lamellipodium, lamellipodium, nuclear matrix, membrane, actin cytoskeleton, focal adhesion, focal adhesion, cell-cell junction, cytosol, cytoplasm, cytoplasm, cytoplasm, nucleus, extracellular space, GO:0051015, GO:0051015, GO:0051015, GO:0005515, GO:0005102, actin filament binding, actin filament binding, actin filament binding, protein binding, signaling receptor binding, GO:0061001, GO:0051293, GO:0051014, GO:0048870, GO:0044794, GO:0043200, GO:0043066, GO:0040019, GO:0035722, GO:0030836, GO:0030043, GO:0030042, GO:0030042, GO:0030042, GO:0030036, GO:0030010, GO:0022604, GO:0009615, GO:0007266, GO:0007010, GO:0006468, GO:0001842, GO:0001755, GO:0000281, regulation of dendritic spine morphogenesis, establishment of spindle localization, actin filament severing, cell motility, positive regulation by host of viral process, response to amino acid, negative regulation of apoptotic process, positive regulation of embryonic development, interleukin-12-mediated signaling pathway, positive regulation of actin filament depolymerization, actin filament fragmentation, actin filament depolymerization, actin filament depolymerization, actin filament depolymerization, actin cytoskeleton organization, establishment of cell polarity, regulation of cell morphogenesis, response to virus, Rho protein signal transduction, cytoskeleton organization, protein phosphorylation, neural fold formation, neural crest cell migration, mitotic cytokinesis, 5598 5531 7839 2838 5006 4562 3246 4558 4075 ENSG00000172765 chr3 129647792 129893606 - TMCC1 protein_coding 23023 GO:0140284, GO:0016021, GO:0012505, GO:0005829, GO:0005791, GO:0005789, endoplasmic reticulum-endosome membrane contact site, integral component of membrane, endomembrane system, cytosol, rough endoplasmic reticulum, endoplasmic reticulum membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0140285, GO:0140285, GO:0097750, GO:0097750, GO:0090148, GO:0090148, GO:0016197, GO:0016197, GO:0007029, endosome fission, endosome fission, endosome membrane tubulation, endosome membrane tubulation, membrane fission, membrane fission, endosomal transport, endosomal transport, endoplasmic reticulum organization, 2326 2681 2572 970 1933 1433 1139 1655 1153 ENSG00000172766 chr13 41311205 41377030 + NAA16 protein_coding 79612 GO:0070062, GO:0031415, GO:0031415, GO:0005829, GO:0005737, GO:0005737, GO:0005737, GO:0005667, GO:0005634, extracellular exosome, NatA complex, NatA complex, cytosol, cytoplasm, cytoplasm, cytoplasm, transcription regulator complex, nucleus, GO:0043022, GO:0043022, GO:0016407, GO:0005515, GO:0004596, ribosome binding, ribosome binding, acetyltransferase activity, protein binding, peptide alpha-N-acetyltransferase activity, GO:0050821, GO:0045893, GO:0043066, GO:0017196, GO:0006474, GO:0006474, protein stabilization, positive regulation of transcription, DNA-templated, negative regulation of apoptotic process, N-terminal peptidyl-methionine acetylation, N-terminal protein amino acid acetylation, N-terminal protein amino acid acetylation, 91 109 155 146 133 258 132 100 124 ENSG00000172769 chr11 58402464 58406874 - OR5B3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 441608 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172771 chr3 129401321 129428651 - EFCAB12 protein_coding 90288 GO:0005515, GO:0005509, protein binding, calcium ion binding, 59 119 76 80 182 164 119 100 137 ENSG00000172772 chr11 58266792 58268260 - OR10W1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81341 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172775 chr16 57152466 57186116 - FAM192A protein_coding 80011 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, GO:1901799, GO:0032091, negative regulation of proteasomal protein catabolic process, negative regulation of protein binding, 1302 1257 1653 1413 1940 2115 1445 1296 1484 ENSG00000172780 chr3 129087569 129122801 - RAB43 protein_coding 339122 GO:0070062, GO:0045335, GO:0032588, GO:0030670, GO:0012505, GO:0005794, extracellular exosome, phagocytic vesicle, trans-Golgi network membrane, phagocytic vesicle membrane, endomembrane system, Golgi apparatus, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1901998, GO:0090382, GO:0071346, GO:0035526, GO:0019068, GO:0007030, GO:0006886, GO:0000045, toxin transport, phagosome maturation, cellular response to interferon-gamma, retrograde transport, plasma membrane to Golgi, virion assembly, Golgi organization, intracellular protein transport, autophagosome assembly, 324 289 356 100 220 257 128 184 203 ENSG00000172782 chr17 74877299 74893781 - FADS6 protein_coding 283985 GO:0016021, integral component of membrane, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, GO:0006633, oxidation-reduction process, fatty acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000172785 chr9 121038 179147 - CBWD1 protein_coding 55871 GO:0005737, cytoplasm, GO:0005524, GO:0005515, ATP binding, protein binding, 100 64 91 100 91 54 79 46 87 ENSG00000172789 chr12 54032853 54035358 + HOXC5 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008]. 3222 GO:0030054, GO:0005654, GO:0005634, GO:0000785, cell junction, nucleoplasm, nucleus, chromatin, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048706, GO:0009952, GO:0006357, GO:0006357, embryonic skeletal system development, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000172794 chr17 74670578 74747335 + RAB37 protein_coding Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]. 326624 GO:0035579, GO:0035577, GO:0005886, GO:0005794, GO:0005793, GO:0005768, specific granule membrane, azurophil granule membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endosome, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0043312, GO:0015031, neutrophil degranulation, protein transport, 1795 1732 2278 740 1257 1229 981 1199 1011 ENSG00000172795 chr5 112976702 113020970 + DCP2 protein_coding The protein encoded by this gene is a key component of an mRNA-decapping complex required for degradation of mRNAs, both in normal mRNA turnover, and in nonsense-mediated mRNA decay (NMD). It removes the 7-methyl guanine cap structure from mRNA, prior to its degradation from the 5' end. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]. 167227 GO:0036464, GO:0030054, GO:0016442, GO:0005829, GO:0005737, GO:0005654, GO:0000932, GO:0000932, cytoplasmic ribonucleoprotein granule, cell junction, RISC complex, cytosol, cytoplasm, nucleoplasm, P-body, P-body, GO:0070034, GO:0050072, GO:0050072, GO:0030145, GO:0016896, GO:0005515, GO:0004534, telomerase RNA binding, m7G(5')pppN diphosphatase activity, m7G(5')pppN diphosphatase activity, manganese ion binding, exoribonuclease activity, producing 5'-phosphomonoesters, protein binding, 5'-3' exoribonuclease activity, GO:1904872, GO:0090503, GO:0071044, GO:0043928, GO:0043488, GO:0043488, GO:0032211, GO:0006402, GO:0000290, GO:0000184, regulation of telomerase RNA localization to Cajal body, RNA phosphodiester bond hydrolysis, exonucleolytic, histone mRNA catabolic process, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, regulation of mRNA stability, negative regulation of telomere maintenance via telomerase, mRNA catabolic process, deadenylation-dependent decapping of nuclear-transcribed mRNA, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1533 1401 2103 1217 2300 2308 1639 1704 1942 ENSG00000172799 chr2 231433923 231434426 - ZBTB8OSP2 processed_pseudogene 1 0 0 0 0 0 3 0 0 ENSG00000172803 chr11 65833641 65856896 + SNX32 protein_coding 254122 GO:0005829, GO:0005768, cytosol, endosome, GO:0035091, GO:0005515, phosphatidylinositol binding, protein binding, GO:0042147, GO:0016241, GO:0015031, retrograde transport, endosome to Golgi, regulation of macroautophagy, protein transport, 1673 1701 2431 720 1256 1253 926 1164 1037 ENSG00000172809 chr17 74203582 74210655 + RPL38 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq, Jul 2008]. 6169 GO:0042788, GO:0033291, GO:0022625, GO:0022625, GO:0022625, GO:0014069, GO:0014069, GO:0005925, GO:0005829, polysomal ribosome, eukaryotic 80S initiation complex, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, postsynaptic density, postsynaptic density, focal adhesion, cytosol, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0048318, GO:0042474, GO:0034463, GO:0022618, GO:0019083, GO:0007605, GO:0006614, GO:0006417, GO:0006413, GO:0006412, GO:0002181, GO:0001503, GO:0001501, GO:0000184, axial mesoderm development, middle ear morphogenesis, 90S preribosome assembly, ribonucleoprotein complex assembly, viral transcription, sensory perception of sound, SRP-dependent cotranslational protein targeting to membrane, regulation of translation, translational initiation, translation, cytoplasmic translation, ossification, skeletal system development, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 367 210 428 730 417 720 421 446 571 ENSG00000172817 chr8 64587763 64798761 - CYP7B1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]. 9420 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0047092, GO:0033783, GO:0020037, GO:0008396, GO:0008396, GO:0008395, GO:0005506, 27-hydroxycholesterol 7-alpha-monooxygenase activity, 25-hydroxycholesterol 7alpha-hydroxylase activity, heme binding, oxysterol 7-alpha-hydroxylase activity, oxysterol 7-alpha-hydroxylase activity, steroid hydroxylase activity, iron ion binding, GO:0060740, GO:0055114, GO:0042632, GO:0035754, GO:0033147, GO:0016125, GO:0008203, GO:0006699, GO:0006699, GO:0006699, prostate gland epithelium morphogenesis, oxidation-reduction process, cholesterol homeostasis, B cell chemotaxis, negative regulation of intracellular estrogen receptor signaling pathway, sterol metabolic process, cholesterol metabolic process, bile acid biosynthetic process, bile acid biosynthetic process, bile acid biosynthetic process, 3 0 5 0 0 0 0 0 0 ENSG00000172818 chr11 65787022 65797219 + OVOL1 protein_coding This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]. 5017 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000647, GO:1901994, GO:0051729, GO:0045944, GO:0043588, GO:0009913, GO:0007498, GO:0007283, GO:0006357, GO:0001822, GO:0000122, negative regulation of stem cell proliferation, negative regulation of meiotic cell cycle phase transition, germline cell cycle switching, mitotic to meiotic cell cycle, positive regulation of transcription by RNA polymerase II, skin development, epidermal cell differentiation, mesoderm development, spermatogenesis, regulation of transcription by RNA polymerase II, kidney development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 4 0 0 0 ENSG00000172819 chr12 53210567 53232980 - RARG protein_coding This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 5916 GO:0016021, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, integral component of membrane, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990837, GO:0046965, GO:0008270, GO:0005515, GO:0004879, GO:0003700, GO:0003677, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, retinoid X receptor binding, zinc ion binding, protein binding, nuclear receptor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990830, GO:0071300, GO:0070384, GO:0060740, GO:0060534, GO:0060324, GO:0060070, GO:0048384, GO:0048384, GO:0048048, GO:0045944, GO:0045944, GO:0045637, GO:0043068, GO:0043065, GO:0035264, GO:0035116, GO:0032526, GO:0032331, GO:0031641, GO:0031076, GO:0030154, GO:0009952, GO:0009755, GO:0008361, GO:0008285, GO:0008284, GO:0006367, GO:0003430, GO:0002068, GO:0001843, GO:0000122, GO:0000122, cellular response to leukemia inhibitory factor, cellular response to retinoic acid, Harderian gland development, prostate gland epithelium morphogenesis, trachea cartilage development, face development, canonical Wnt signaling pathway, retinoic acid receptor signaling pathway, retinoic acid receptor signaling pathway, embryonic eye morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of myeloid cell differentiation, positive regulation of programmed cell death, positive regulation of apoptotic process, multicellular organism growth, embryonic hindlimb morphogenesis, response to retinoic acid, negative regulation of chondrocyte differentiation, regulation of myelination, embryonic camera-type eye development, cell differentiation, anterior/posterior pattern specification, hormone-mediated signaling pathway, regulation of cell size, negative regulation of cell population proliferation, positive regulation of cell population proliferation, transcription initiation from RNA polymerase II promoter, growth plate cartilage chondrocyte growth, glandular epithelial cell development, neural tube closure, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 27 24 80 42 12 38 25 19 37 ENSG00000172824 chr16 66988589 67009758 + CES4A protein_coding This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]. 283848 GO:0005615, extracellular space, GO:0052689, GO:0004806, GO:0004771, carboxylic ester hydrolase activity, triglyceride lipase activity, sterol esterase activity, GO:0016042, lipid catabolic process, 7 11 22 12 5 13 16 5 9 ENSG00000172828 chr16 66961237 66975148 + CES3 protein_coding This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.[provided by RefSeq, Jun 2010]. 23491 GO:0070062, GO:0005829, GO:0005788, GO:0005615, extracellular exosome, cytosol, endoplasmic reticulum lumen, extracellular space, GO:0080030, GO:0052689, GO:0052689, GO:0004806, GO:0004771, methyl indole-3-acetate esterase activity, carboxylic ester hydrolase activity, carboxylic ester hydrolase activity, triglyceride lipase activity, sterol esterase activity, GO:0034383, GO:0016042, GO:0006805, low-density lipoprotein particle clearance, lipid catabolic process, xenobiotic metabolic process, 1 0 1 0 1 0 0 0 0 ENSG00000172830 chr11 67303448 67312607 + SSH3 protein_coding The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008]. 54961 GO:0005856, GO:0005737, GO:0005634, cytoskeleton, cytoplasm, nucleus, GO:0106307, GO:0106306, GO:0008138, GO:0005515, GO:0004725, GO:0004721, GO:0003779, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, actin binding, GO:0035335, GO:0030837, GO:0030036, peptidyl-tyrosine dephosphorylation, negative regulation of actin filament polymerization, actin cytoskeleton organization, 376 289 523 468 387 555 433 292 505 ENSG00000172831 chr16 66934444 66945096 + CES2 protein_coding This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]. 8824 GO:0005788, GO:0005783, GO:0005615, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, GO:0080030, GO:0052689, GO:0052689, GO:0047374, GO:0004806, GO:0004771, methyl indole-3-acetate esterase activity, carboxylic ester hydrolase activity, carboxylic ester hydrolase activity, methylumbelliferyl-acetate deacetylase activity, triglyceride lipase activity, sterol esterase activity, GO:0016042, GO:0009056, GO:0006805, GO:0006693, lipid catabolic process, catabolic process, xenobiotic metabolic process, prostaglandin metabolic process, 112 125 173 117 109 122 101 122 100 ENSG00000172840 chr16 66878589 66895754 + PDP2 protein_coding This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016]. 57546 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0046872, GO:0004741, GO:0004724, metal ion binding, [pyruvate dehydrogenase (lipoamide)] phosphatase activity, magnesium-dependent protein serine/threonine phosphatase activity, GO:1904184, GO:0010510, GO:0006470, GO:0006470, positive regulation of pyruvate dehydrogenase activity, regulation of acetyl-CoA biosynthetic process from pyruvate, protein dephosphorylation, protein dephosphorylation, 10 3 13 18 9 18 13 11 19 ENSG00000172845 chr2 173906459 173965702 - SP3 protein_coding This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010]. 6670 GO:0032993, GO:0017053, GO:0016605, GO:0005654, GO:0005634, GO:0000785, GO:0000785, protein-DNA complex, transcription repressor complex, PML body, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003682, GO:0001227, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060216, GO:0060136, GO:0048706, GO:0048596, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045892, GO:0043353, GO:0030851, GO:0030324, GO:0030224, GO:0030219, GO:0030217, GO:0030183, GO:0006357, GO:0006355, GO:0001892, GO:0001889, GO:0001829, GO:0001779, GO:0001503, GO:0000122, definitive hemopoiesis, embryonic process involved in female pregnancy, embryonic skeletal system development, embryonic camera-type eye morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, enucleate erythrocyte differentiation, granulocyte differentiation, lung development, monocyte differentiation, megakaryocyte differentiation, T cell differentiation, B cell differentiation, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, embryonic placenta development, liver development, trophectodermal cell differentiation, natural killer cell differentiation, ossification, negative regulation of transcription by RNA polymerase II, 3637 3556 5160 1760 3071 2861 2453 2622 2617 ENSG00000172867 chr12 52644558 52652164 - KRT2 protein_coding The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. 3849 GO:0070062, GO:0045095, GO:0016020, GO:0005882, GO:0005829, GO:0005634, GO:0005615, GO:0001533, extracellular exosome, keratin filament, membrane, intermediate filament, cytosol, nucleus, extracellular space, cornified envelope, GO:0030280, GO:0008092, GO:0005515, GO:0005200, structural constituent of skin epidermis, cytoskeletal protein binding, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0051546, GO:0045684, GO:0045109, GO:0043616, GO:0032980, GO:0031424, GO:0031424, GO:0018149, GO:0008544, GO:0003334, cornification, keratinocyte migration, positive regulation of epidermis development, intermediate filament organization, keratinocyte proliferation, keratinocyte activation, keratinization, keratinization, peptide cross-linking, epidermis development, keratinocyte development, 0 0 2 1 1 0 0 0 3 ENSG00000172869 chr5 119037772 119249138 + DMXL1 protein_coding The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 1657 GO:0043291, RAVE complex, GO:0007035, vacuolar acidification, 225 254 346 214 183 244 216 165 191 ENSG00000172878 chr2 171999583 172082430 + METAP1D protein_coding The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]. 254042 GO:0005739, mitochondrion, GO:0070006, GO:0046872, GO:0008235, GO:0004177, metalloaminopeptidase activity, metal ion binding, metalloexopeptidase activity, aminopeptidase activity, GO:0070084, GO:0031365, GO:0018206, GO:0006508, protein initiator methionine removal, N-terminal protein amino acid modification, peptidyl-methionine modification, proteolysis, 5 2 5 15 7 6 2 4 11 ENSG00000172888 chr3 40524878 40574685 + ZNF621 protein_coding 285268 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 86 103 95 105 159 149 146 83 125 ENSG00000172889 chr9 136658856 136672678 + EGFL7 protein_coding This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 51162 GO:0062023, GO:0009986, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, cell surface, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005509, GO:0005102, protein binding, calcium ion binding, signaling receptor binding, GO:0048856, GO:0045746, GO:0007155, GO:0001938, GO:0001570, GO:0001568, GO:0001525, anatomical structure development, negative regulation of Notch signaling pathway, cell adhesion, positive regulation of endothelial cell proliferation, vasculogenesis, blood vessel development, angiogenesis, 0 0 1 0 3 0 1 0 6 ENSG00000172890 chr11 71453109 71524107 + NADSYN1 protein_coding Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]. 55191 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005524, GO:0005515, GO:0004359, GO:0003952, ATP binding, protein binding, glutaminase activity, NAD+ synthase (glutamine-hydrolyzing) activity, GO:0019674, GO:0009435, GO:0009435, NAD metabolic process, NAD biosynthetic process, NAD biosynthetic process, 1283 1680 1835 1853 2569 2450 1614 1811 1991 ENSG00000172893 chr11 71428193 71452868 - DHCR7 protein_coding This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]. 1717 GO:0030176, GO:0016020, GO:0005829, GO:0005789, GO:0005783, GO:0005640, integral component of endoplasmic reticulum membrane, membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, nuclear outer membrane, GO:0050661, GO:0047598, GO:0047598, GO:0047598, GO:0016627, GO:0009918, GO:0005515, NADP binding, 7-dehydrocholesterol reductase activity, 7-dehydrocholesterol reductase activity, 7-dehydrocholesterol reductase activity, oxidoreductase activity, acting on the CH-CH group of donors, sterol delta7 reductase activity, protein binding, GO:0055114, GO:0045540, GO:0042127, GO:0035264, GO:0033490, GO:0033489, GO:0030324, GO:0030154, GO:0016132, GO:0016126, GO:0009791, GO:0006695, GO:0006695, GO:0001568, oxidation-reduction process, regulation of cholesterol biosynthetic process, regulation of cell population proliferation, multicellular organism growth, cholesterol biosynthetic process via lathosterol, cholesterol biosynthetic process via desmosterol, lung development, cell differentiation, brassinosteroid biosynthetic process, sterol biosynthetic process, post-embryonic development, cholesterol biosynthetic process, cholesterol biosynthetic process, blood vessel development, 48 38 66 60 24 42 98 26 38 ENSG00000172900 chr11 71382601 71423423 - FLJ42102 transcribed_unitary_pseudogene 399923 0 0 0 0 0 0 0 0 0 ENSG00000172901 chr5 115962454 116027619 + LVRN protein_coding 206338 GO:0016021, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, cytoplasm, GO:0070006, GO:0042277, GO:0008270, metalloaminopeptidase activity, peptide binding, zinc ion binding, GO:0043171, GO:0008217, GO:0007165, GO:0006508, peptide catabolic process, regulation of blood pressure, signal transduction, proteolysis, 2 1 7 0 0 0 0 1 0 ENSG00000172912 chr22 40569286 40569895 + COX6B1P3 processed_pseudogene 0 0 0 2 0 0 2 0 0 ENSG00000172915 chr13 34942287 35673022 + NBEA protein_coding This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]. 26960 GO:0016020, GO:0012505, GO:0005886, GO:0005829, GO:0005829, GO:0005802, GO:0005634, membrane, endomembrane system, plasma membrane, cytosol, cytosol, trans-Golgi network, nucleus, GO:0019901, protein kinase binding, GO:0008104, protein localization, 3 15 4 6 8 4 14 12 7 ENSG00000172922 chr11 65714005 65720947 - RNASEH2C protein_coding This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]. 84153 GO:0032299, GO:0032299, GO:0005634, ribonuclease H2 complex, ribonuclease H2 complex, nucleus, GO:0005515, protein binding, GO:0006401, GO:0006401, RNA catabolic process, RNA catabolic process, 723 715 778 665 599 610 535 350 405 ENSG00000172927 chr11 69294138 69367726 + MYEOV protein_coding 26579 GO:0005515, protein binding, 0 0 2 0 0 2 1 0 2 ENSG00000172932 chr11 67288547 67302485 + ANKRD13D protein_coding The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]. 338692 GO:0048471, GO:0005886, GO:0005770, GO:0005737, GO:0005737, perinuclear region of cytoplasm, plasma membrane, late endosome, cytoplasm, cytoplasm, GO:0140036, GO:0140036, ubiquitin-dependent protein binding, ubiquitin-dependent protein binding, GO:0002091, negative regulation of receptor internalization, 1980 2290 2527 2078 3383 2996 2204 2567 2479 ENSG00000172935 chr11 69004395 69013409 - MRGPRF protein_coding 116535 GO:0031965, GO:0016021, GO:0005886, nuclear membrane, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000172936 chr3 38138478 38143022 + MYD88 protein_coding This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. 4615 GO:0032991, GO:0014069, GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005634, protein-containing complex, postsynaptic density, endosome membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleus, GO:0070976, GO:0043621, GO:0042802, GO:0035325, GO:0005515, GO:0005149, GO:0005123, GO:0005121, TIR domain binding, protein self-association, identical protein binding, Toll-like receptor binding, protein binding, interleukin-1 receptor binding, death receptor binding, Toll binding, GO:2000341, GO:2000338, GO:1902622, GO:1900017, GO:1900017, GO:0140052, GO:0090557, GO:0071260, GO:0071222, GO:0070935, GO:0070555, GO:0070498, GO:0060337, GO:0051092, GO:0050830, GO:0050830, GO:0050727, GO:0050671, GO:0048661, GO:0046330, GO:0045087, GO:0043123, GO:0043066, GO:0042832, GO:0042742, GO:0034162, GO:0032760, GO:0032757, GO:0032755, GO:0032747, GO:0032740, GO:0032606, GO:0032494, GO:0032481, GO:0032481, GO:0031663, GO:0016064, GO:0010628, GO:0009682, GO:0009615, GO:0008063, GO:0007254, GO:0007166, GO:0007165, GO:0006954, GO:0006915, GO:0006909, GO:0002755, GO:0002238, GO:0002224, regulation of chemokine (C-X-C motif) ligand 2 production, regulation of chemokine (C-X-C motif) ligand 1 production, regulation of neutrophil migration, positive regulation of cytokine production involved in inflammatory response, positive regulation of cytokine production involved in inflammatory response, cellular response to oxidised low-density lipoprotein particle stimulus, establishment of endothelial intestinal barrier, cellular response to mechanical stimulus, cellular response to lipopolysaccharide, 3'-UTR-mediated mRNA stabilization, response to interleukin-1, interleukin-1-mediated signaling pathway, type I interferon signaling pathway, positive regulation of NF-kappaB transcription factor activity, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, regulation of inflammatory response, positive regulation of lymphocyte proliferation, positive regulation of smooth muscle cell proliferation, positive regulation of JNK cascade, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, defense response to protozoan, defense response to bacterium, toll-like receptor 9 signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-23 production, positive regulation of interleukin-17 production, type I interferon production, response to peptidoglycan, positive regulation of type I interferon production, positive regulation of type I interferon production, lipopolysaccharide-mediated signaling pathway, immunoglobulin mediated immune response, positive regulation of gene expression, induced systemic resistance, response to virus, Toll signaling pathway, JNK cascade, cell surface receptor signaling pathway, signal transduction, inflammatory response, apoptotic process, phagocytosis, MyD88-dependent toll-like receptor signaling pathway, response to molecule of fungal origin, toll-like receptor signaling pathway, 3808 4075 5082 1236 2001 1645 1938 2362 1610 ENSG00000172938 chr11 68980021 68980986 - MRGPRD protein_coding 116512 GO:0016021, GO:0005886, GO:0005615, integral component of membrane, plasma membrane, extracellular space, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 1 0 0 0 0 0 ENSG00000172939 chr3 38165089 38255488 + OXSR1 protein_coding The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008]. 9943 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0106311, GO:0106310, GO:0042802, GO:0019901, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, identical protein binding, protein kinase binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:1990869, GO:1901017, GO:0071476, GO:0046777, GO:0038146, GO:0038116, GO:0035556, GO:0023016, GO:0018107, GO:0018107, GO:0010820, GO:0007231, GO:0006979, GO:0006468, cellular response to chemokine, negative regulation of potassium ion transmembrane transporter activity, cellular hypotonic response, protein autophosphorylation, chemokine (C-X-C motif) ligand 12 signaling pathway, chemokine (C-C motif) ligand 21 signaling pathway, intracellular signal transduction, signal transduction by trans-phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, positive regulation of T cell chemotaxis, osmosensory signaling pathway, response to oxidative stress, protein phosphorylation, 1989 1907 3135 1079 1176 1287 1026 769 782 ENSG00000172940 chr3 38265812 38278757 + SLC22A13 protein_coding This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008]. 9390 GO:0070062, GO:0016324, GO:0016021, GO:0005886, GO:0005886, GO:0005794, GO:0005783, extracellular exosome, apical plasma membrane, integral component of membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, GO:0090416, GO:0090416, nicotinate transmembrane transporter activity, nicotinate transmembrane transporter activity, GO:2001142, GO:0055085, GO:0045922, GO:0034356, GO:0015747, GO:0002854, nicotinate transport, transmembrane transport, negative regulation of fatty acid metabolic process, NAD biosynthesis via nicotinamide riboside salvage pathway, urate transport, positive regulation of T cell mediated cytotoxicity directed against tumor cell target, 2 10 3 1 0 1 6 2 6 ENSG00000172943 chrX 53936676 54048958 - PHF8 protein_coding The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. 23133 GO:0031965, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear membrane, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0071558, GO:0051864, GO:0035575, GO:0035064, GO:0032454, GO:0032452, GO:0032452, GO:0032452, GO:0016706, GO:0008270, GO:0005515, GO:0005506, GO:0003712, GO:0003682, histone demethylase activity (H3-K27 specific), histone demethylase activity (H3-K36 specific), histone demethylase activity (H4-K20 specific), methylated histone binding, histone demethylase activity (H3-K9 specific), histone demethylase activity, histone demethylase activity, histone demethylase activity, 2-oxoglutarate-dependent dioxygenase activity, zinc ion binding, protein binding, iron ion binding, transcription coregulator activity, chromatin binding, GO:0071557, GO:0070544, GO:0061188, GO:0055114, GO:0045943, GO:0045893, GO:0045893, GO:0035574, GO:0033169, GO:0007420, GO:0006482, GO:0006357, GO:0000082, histone H3-K27 demethylation, histone H3-K36 demethylation, negative regulation of ribosomal DNA heterochromatin assembly, oxidation-reduction process, positive regulation of transcription by RNA polymerase I, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, histone H4-K20 demethylation, histone H3-K9 demethylation, brain development, protein demethylation, regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 649 797 853 448 605 635 490 520 605 ENSG00000172954 chr2 30447226 30644225 + LCLAT1 protein_coding 253558 GO:0016021, GO:0016020, GO:0012505, GO:0005829, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, membrane, endomembrane system, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0016746, GO:0008374, GO:0005515, GO:0003841, transferase activity, transferring acyl groups, O-acyltransferase activity, protein binding, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0036149, GO:0035965, GO:0016024, GO:0007275, GO:0006654, phosphatidylinositol acyl-chain remodeling, cardiolipin acyl-chain remodeling, CDP-diacylglycerol biosynthetic process, multicellular organism development, phosphatidic acid biosynthetic process, 83 63 79 66 69 89 75 68 57 ENSG00000172955 chr4 99202638 99219537 - ADH6 protein_coding This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 130 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0008270, GO:0008270, GO:0004745, GO:0004024, GO:0004022, zinc ion binding, zinc ion binding, retinol dehydrogenase activity, alcohol dehydrogenase activity, zinc-dependent, alcohol dehydrogenase (NAD+) activity, GO:0045471, GO:0042573, GO:0042572, GO:0006069, GO:0006069, GO:0006069, response to ethanol, retinoic acid metabolic process, retinol metabolic process, ethanol oxidation, ethanol oxidation, ethanol oxidation, 0 0 4 6 0 0 1 1 1 ENSG00000172965 chr2 111036776 111523376 - MIR4435-2HG lincRNA 541471 308 274 503 171 224 352 173 226 215 ENSG00000172967 chr22 16783412 16821699 - XKR3 protein_coding XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]. 150165 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 0 2 31 0 2 41 0 0 31 ENSG00000172969 chr3 75664330 75667220 + FRG2C protein_coding 100288801 GO:0005634, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000172971 chr3 75619506 75623849 - UNC93B3 unprocessed_pseudogene 0 1 1 0 0 0 0 0 3 ENSG00000172974 chr2 65205108 65205988 + AC007318.1 processed_pseudogene 81 51 79 38 33 60 41 24 54 ENSG00000172977 chr11 65711996 65719604 + KAT5 protein_coding The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 10524 GO:0048471, GO:0035267, GO:0032777, GO:0005730, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000812, GO:0000785, perinuclear region of cytoplasm, NuA4 histone acetyltransferase complex, Piccolo NuA4 histone acetyltransferase complex, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, Swr1 complex, chromatin, GO:0070491, GO:0061733, GO:0046872, GO:0042393, GO:0016407, GO:0005515, GO:0004402, GO:0004402, GO:0004402, GO:0004402, GO:0003713, GO:0003713, GO:0003712, repressing transcription factor binding, peptide-lysine-N-acetyltransferase activity, metal ion binding, histone binding, acetyltransferase activity, protein binding, histone acetyltransferase activity, histone acetyltransferase activity, histone acetyltransferase activity, histone acetyltransferase activity, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, GO:1904837, GO:1901985, GO:1901796, GO:0071392, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0043161, GO:0040008, GO:0032703, GO:0018394, GO:0016573, GO:0016032, GO:0010508, GO:0010212, GO:0006978, GO:0006303, GO:0006302, GO:0006260, GO:0000729, GO:0000122, beta-catenin-TCF complex assembly, positive regulation of protein acetylation, regulation of signal transduction by p53 class mediator, cellular response to estradiol stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of growth, negative regulation of interleukin-2 production, peptidyl-lysine acetylation, histone acetylation, viral process, positive regulation of autophagy, response to ionizing radiation, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, double-strand break repair via nonhomologous end joining, double-strand break repair, DNA replication, DNA double-strand break processing, negative regulation of transcription by RNA polymerase II, 903 873 938 615 591 614 533 367 418 ENSG00000172985 chr2 109129348 109504632 + SH3RF3 protein_coding 344558 GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0051865, GO:0046330, GO:0006915, protein autoubiquitination, positive regulation of JNK cascade, apoptotic process, 77 61 158 39 38 76 41 42 59 ENSG00000172986 chr3 72888073 72998138 + GXYLT2 protein_coding The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]. 727936 GO:0016021, integral component of membrane, GO:0035252, GO:0035252, UDP-xylosyltransferase activity, UDP-xylosyltransferase activity, GO:0016266, GO:0016266, O-glycan processing, O-glycan processing, 0 0 0 0 0 5 0 0 0 ENSG00000172987 chr10 98457077 99235862 - HPSE2 protein_coding This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 60495 GO:0031012, GO:0031012, GO:0005886, extracellular matrix, extracellular matrix, plasma membrane, GO:0043395, GO:0030305, GO:0030305, heparan sulfate proteoglycan binding, heparanase activity, heparanase activity, GO:0030198, GO:0008284, GO:0008150, GO:0006027, extracellular matrix organization, positive regulation of cell population proliferation, biological_process, glycosaminoglycan catabolic process, 0 0 0 3 0 3 0 0 0 ENSG00000172992 chr17 45023340 45061109 - DCAKD protein_coding 79877 GO:0016020, membrane, GO:0005524, GO:0004140, ATP binding, dephospho-CoA kinase activity, GO:0016310, GO:0015937, phosphorylation, coenzyme A biosynthetic process, 16 27 19 23 19 25 30 12 17 ENSG00000172995 chr3 35638945 35794496 + ARPP21 protein_coding This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 10777 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0005516, GO:0003676, GO:0003674, calmodulin binding, nucleic acid binding, molecular_function, GO:0034605, GO:0008150, cellular response to heat, biological_process, 1 2 1 0 2 1 6 0 0 ENSG00000173011 chr4 7041899 7057952 + TADA2B protein_coding TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010]. 93624 GO:0070461, GO:0070461, GO:0030914, GO:0005654, GO:0005634, SAGA-type complex, SAGA-type complex, STAGA complex, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003713, GO:0003682, zinc ion binding, protein binding, transcription coactivator activity, chromatin binding, GO:1903508, GO:0035066, GO:0016579, GO:0006357, GO:0006338, positive regulation of nucleic acid-templated transcription, positive regulation of histone acetylation, protein deubiquitination, regulation of transcription by RNA polymerase II, chromatin remodeling, 634 588 743 292 509 370 325 453 410 ENSG00000173013 chr4 7040849 7042939 - CCDC96 protein_coding 257236 GO:0036064, GO:0005930, GO:0005815, GO:0005737, ciliary basal body, axoneme, microtubule organizing center, cytoplasm, GO:0005515, protein binding, GO:0060271, cilium assembly, 23 15 12 13 19 28 24 20 30 ENSG00000173020 chr11 67266410 67286556 + GRK2 protein_coding This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]. 156 GO:0045202, GO:0016020, GO:0016020, GO:0005929, GO:0005886, GO:0005829, GO:0005737, synapse, membrane, membrane, cilium, plasma membrane, cytosol, cytoplasm, GO:0047696, GO:0031755, GO:0031694, GO:0005524, GO:0005515, GO:0004703, GO:0004672, beta-adrenergic receptor kinase activity, Edg-2 lysophosphatidic acid receptor binding, alpha-2A adrenergic receptor binding, ATP binding, protein binding, G protein-coupled receptor kinase activity, protein kinase activity, GO:1901081, GO:0060048, GO:0046718, GO:0045988, GO:0033605, GO:0031623, GO:0019079, GO:0018107, GO:0018105, GO:0007507, GO:0007217, GO:0007213, GO:0007186, GO:0003108, GO:0002029, negative regulation of relaxation of smooth muscle, cardiac muscle contraction, viral entry into host cell, negative regulation of striated muscle contraction, positive regulation of catecholamine secretion, receptor internalization, viral genome replication, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, heart development, tachykinin receptor signaling pathway, G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, negative regulation of the force of heart contraction by chemical signal, desensitization of G protein-coupled receptor signaling pathway, 6130 6047 8069 5522 7223 6798 5500 5562 6062 ENSG00000173039 chr11 65653596 65663094 - RELA protein_coding NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 5970 GO:0098978, GO:0035525, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000785, GO:0000785, glutamatergic synapse, NF-kappaB p50/p65 complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, transcription regulator complex, nucleoplasm, nucleus, nucleus, nucleus, chromatin, chromatin, chromatin, chromatin, GO:0071532, GO:0070491, GO:0051059, GO:0047485, GO:0044877, GO:0042826, GO:0042805, GO:0042803, GO:0042802, GO:0042802, GO:0042301, GO:0042277, GO:0033613, GO:0031625, GO:0031490, GO:0019901, GO:0019899, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0003682, GO:0003677, GO:0003677, GO:0001228, GO:0001228, GO:0001228, GO:0001227, GO:0001225, GO:0000981, GO:0000981, GO:0000981, GO:0000979, GO:0000978, GO:0000978, GO:0000978, GO:0000977, GO:0000977, GO:0000976, ankyrin repeat binding, repressing transcription factor binding, NF-kappaB binding, protein N-terminus binding, protein-containing complex binding, histone deacetylase binding, actinin binding, protein homodimerization activity, identical protein binding, identical protein binding, phosphate ion binding, peptide binding, activating transcription factor binding, ubiquitin protein ligase binding, chromatin DNA binding, protein kinase binding, enzyme binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II transcription coactivator binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001237, GO:2000630, GO:1904996, GO:1904385, GO:1902895, GO:1902894, GO:1902004, GO:1901522, GO:1901224, GO:1901224, GO:1901223, GO:1901222, GO:0099527, GO:0071356, GO:0071356, GO:0071354, GO:0071347, GO:0071316, GO:0071224, GO:0071223, GO:0071222, GO:0070555, GO:0070498, GO:0070498, GO:0070431, GO:0070301, GO:0051607, GO:0051591, GO:0051092, GO:0051092, GO:0051092, GO:0051092, GO:0050862, GO:0050852, GO:0050727, GO:0046627, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045087, GO:0043620, GO:0043278, GO:0043200, GO:0043123, GO:0043066, GO:0043066, GO:0042493, GO:0042177, GO:0038095, GO:0038061, GO:0035994, GO:0035924, GO:0035729, GO:0034097, GO:0033590, GO:0033554, GO:0033234, GO:0033209, GO:0032868, GO:0032757, GO:0032735, GO:0032570, GO:0032495, GO:0032481, GO:0032332, GO:0031293, GO:0019221, GO:0016032, GO:0014040, GO:0010224, GO:0010033, GO:0009887, GO:0008284, GO:0007568, GO:0007249, GO:0006968, GO:0006954, GO:0006954, GO:0006357, GO:0006355, GO:0006351, GO:0006325, GO:0006117, GO:0002223, GO:0001942, GO:0001889, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway, positive regulation of miRNA metabolic process, positive regulation of leukocyte adhesion to vascular endothelial cell, cellular response to angiotensin, positive regulation of pri-miRNA transcription by RNA polymerase II, negative regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of amyloid-beta formation, positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus, positive regulation of NIK/NF-kappaB signaling, positive regulation of NIK/NF-kappaB signaling, negative regulation of NIK/NF-kappaB signaling, regulation of NIK/NF-kappaB signaling, postsynapse to nucleus signaling pathway, cellular response to tumor necrosis factor, cellular response to tumor necrosis factor, cellular response to interleukin-6, cellular response to interleukin-1, cellular response to nicotine, cellular response to peptidoglycan, cellular response to lipoteichoic acid, cellular response to lipopolysaccharide, response to interleukin-1, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing 2 signaling pathway, cellular response to hydrogen peroxide, defense response to virus, response to cAMP, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, regulation of inflammatory response, negative regulation of insulin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, innate immune response, regulation of DNA-templated transcription in response to stress, response to morphine, response to amino acid, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, negative regulation of apoptotic process, response to drug, negative regulation of protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, response to muscle stretch, cellular response to vascular endothelial growth factor stimulus, cellular response to hepatocyte growth factor stimulus, response to cytokine, response to cobalamin, cellular response to stress, negative regulation of protein sumoylation, tumor necrosis factor-mediated signaling pathway, response to insulin, positive regulation of interleukin-8 production, positive regulation of interleukin-12 production, response to progesterone, response to muramyl dipeptide, positive regulation of type I interferon production, positive regulation of chondrocyte differentiation, membrane protein intracellular domain proteolysis, cytokine-mediated signaling pathway, viral process, positive regulation of Schwann cell differentiation, response to UV-B, response to organic substance, animal organ morphogenesis, positive regulation of cell population proliferation, aging, I-kappaB kinase/NF-kappaB signaling, cellular defense response, inflammatory response, inflammatory response, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, transcription, DNA-templated, chromatin organization, acetaldehyde metabolic process, stimulatory C-type lectin receptor signaling pathway, hair follicle development, liver development, negative regulation of transcription by RNA polymerase II, 2179 2048 3307 1566 1769 2084 1616 1351 1777 ENSG00000173040 chr4 5542772 5709548 - EVC2 protein_coding This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 132884 GO:0098797, GO:0060170, GO:0060170, GO:0016021, GO:0005929, GO:0005856, GO:0005737, GO:0005634, GO:0005634, plasma membrane protein complex, ciliary membrane, ciliary membrane, integral component of membrane, cilium, cytoskeleton, cytoplasm, nucleus, nucleus, GO:0007224, smoothened signaling pathway, 4 0 5 1 2 8 5 3 4 ENSG00000173041 chr7 64519884 64563106 - ZNF680 protein_coding 340252 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 13 6 41 18 11 56 28 10 31 ENSG00000173064 chr12 112160188 112382439 - HECTD4 protein_coding 283450 GO:0016021, integral component of membrane, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0042593, GO:0016567, GO:0006006, glucose homeostasis, protein ubiquitination, glucose metabolic process, 588 777 802 411 680 519 546 454 470 ENSG00000173065 chr17 28755978 28855232 - FAM222B protein_coding 55731 GO:0005654, nucleoplasm, GO:0005515, protein binding, 88 58 128 93 87 118 90 78 71 ENSG00000173068 chr9 16409503 16870843 - BNC2 protein_coding This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]. 54796 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0000976, metal ion binding, protein binding, transcription regulatory region sequence-specific DNA binding, GO:0060021, GO:0043586, GO:0006355, GO:0003416, roof of mouth development, tongue development, regulation of transcription, DNA-templated, endochondral bone growth, 0 3 2 0 2 0 2 1 5 ENSG00000173077 chr9 114850968 115402644 + DEC1 protein_coding 2 1 5 2 9 23 8 11 41 ENSG00000173080 chr1 155941710 155942949 + RXFP4 protein_coding GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]. 339403 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0008528, GO:0005515, G protein-coupled peptide receptor activity, protein binding, GO:2000253, GO:0007218, GO:0007186, positive regulation of feeding behavior, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 10 10 11 4 6 11 2 12 19 ENSG00000173083 chr4 83292461 83335153 - HPSE protein_coding Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 10855 GO:0045121, GO:0043231, GO:0043202, GO:0035580, GO:0031012, GO:0005765, GO:0005764, GO:0005654, GO:0005634, GO:0005576, membrane raft, intracellular membrane-bounded organelle, lysosomal lumen, specific granule lumen, extracellular matrix, lysosomal membrane, lysosome, nucleoplasm, nucleus, extracellular region, GO:0045545, GO:0030305, GO:0005515, GO:0004566, syndecan binding, heparanase activity, protein binding, beta-glucuronidase activity, GO:0061042, GO:0060055, GO:0051897, GO:0051798, GO:0051797, GO:0043312, GO:0033690, GO:0030200, GO:0030194, GO:0010575, GO:0007160, GO:0007160, GO:0006029, GO:0006027, vascular wound healing, angiogenesis involved in wound healing, positive regulation of protein kinase B signaling, positive regulation of hair follicle development, regulation of hair follicle development, neutrophil degranulation, positive regulation of osteoblast proliferation, heparan sulfate proteoglycan catabolic process, positive regulation of blood coagulation, positive regulation of vascular endothelial growth factor production, cell-matrix adhesion, cell-matrix adhesion, proteoglycan metabolic process, glycosaminoglycan catabolic process, 556 447 533 127 209 132 181 232 178 ENSG00000173085 chr4 83261536 83284914 - COQ2 protein_coding This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]. 27235 GO:0031305, GO:0031305, GO:0005743, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrial inner membrane, GO:0047293, GO:0016765, GO:0004659, GO:0002083, GO:0002083, GO:0002083, 4-hydroxybenzoate nonaprenyltransferase activity, transferase activity, transferring alkyl or aryl (other than methyl) groups, prenyltransferase activity, 4-hydroxybenzoate decaprenyltransferase activity, 4-hydroxybenzoate decaprenyltransferase activity, 4-hydroxybenzoate decaprenyltransferase activity, GO:0008299, GO:0006744, GO:0006744, GO:0006744, GO:0006744, GO:0006744, GO:0006744, GO:0006071, isoprenoid biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, ubiquinone biosynthetic process, glycerol metabolic process, 101 84 115 53 61 39 46 50 34 ENSG00000173093 chr12 110846769 110907535 + CCDC63 protein_coding 160762 GO:0005930, axoneme, GO:0036158, GO:0007286, GO:0003341, outer dynein arm assembly, spermatid development, cilium movement, 0 0 0 0 0 0 0 0 0 ENSG00000173110 chr1 161524540 161526910 + HSPA6 protein_coding 3310 GO:1904813, GO:0072562, GO:0070062, GO:0034774, GO:0008180, GO:0008180, GO:0005886, GO:0005829, GO:0005829, GO:0005814, GO:0005737, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, blood microparticle, extracellular exosome, secretory granule lumen, COP9 signalosome, COP9 signalosome, plasma membrane, cytosol, cytosol, centriole, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0051787, GO:0051082, GO:0051082, GO:0044183, GO:0031625, GO:0031072, GO:0031072, GO:0019899, GO:0016887, GO:0016887, GO:0005524, GO:0005515, misfolded protein binding, unfolded protein binding, unfolded protein binding, protein folding chaperone, ubiquitin protein ligase binding, heat shock protein binding, heat shock protein binding, enzyme binding, ATPase activity, ATPase activity, ATP binding, protein binding, GO:0070370, GO:0051085, GO:0043312, GO:0042026, GO:0042026, GO:0034620, GO:0034605, GO:0034605, GO:0016192, cellular heat acclimation, chaperone cofactor-dependent protein refolding, neutrophil degranulation, protein refolding, protein refolding, cellular response to unfolded protein, cellular response to heat, cellular response to heat, vesicle-mediated transport, 3399 2167 3424 2592 2872 3024 2195 1754 2394 ENSG00000173113 chr11 64316460 64318084 - TRMT112 protein_coding 51504 GO:0048471, GO:0032991, GO:0005829, GO:0005654, GO:0005654, perinuclear region of cytoplasm, protein-containing complex, cytosol, nucleoplasm, nucleoplasm, GO:0046982, GO:0016435, GO:0008276, GO:0005515, protein heterodimerization activity, rRNA (guanine) methyltransferase activity, protein methyltransferase activity, protein binding, GO:2000234, GO:0070476, GO:0070476, GO:0034968, GO:0032259, GO:0031167, GO:0031167, GO:0030488, GO:0018364, GO:0018364, GO:0006415, positive regulation of rRNA processing, rRNA (guanine-N7)-methylation, rRNA (guanine-N7)-methylation, histone lysine methylation, methylation, rRNA methylation, rRNA methylation, tRNA methylation, peptidyl-glutamine methylation, peptidyl-glutamine methylation, translational termination, 505 524 550 697 706 600 651 652 571 ENSG00000173114 chr7 111091006 111125454 + LRRN3 protein_coding 54674 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, GO:0051965, positive regulation of synapse assembly, 28 18 45 8 4 6 13 0 12 ENSG00000173120 chr11 67119269 67258087 + KDM2A protein_coding This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least six highly degenerated leucine-rich repeats. This family member plays a role in epigenetic silencing. It nucleates at CpG islands and specifically demethylates both mono- and di-methylated lysine-36 of histone H3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 22992 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0051864, GO:0045322, GO:0032452, GO:0008270, GO:0005515, GO:0003712, histone demethylase activity (H3-K36 specific), unmethylated CpG binding, histone demethylase activity, zinc ion binding, protein binding, transcription coregulator activity, GO:0070544, GO:0055114, GO:0042752, GO:0032922, GO:0010944, GO:0006482, GO:0006357, GO:0006303, histone H3-K36 demethylation, oxidation-reduction process, regulation of circadian rhythm, circadian regulation of gene expression, negative regulation of transcription by competitive promoter binding, protein demethylation, regulation of transcription by RNA polymerase II, double-strand break repair via nonhomologous end joining, 4419 4428 5791 2786 3237 3556 2948 2486 2889 ENSG00000173124 chr10 95194200 95228928 + ACSM6 protein_coding 142827 GO:0005759, mitochondrial matrix, GO:0047760, GO:0046872, GO:0015645, GO:0005525, GO:0005524, GO:0004321, GO:0003996, butyrate-CoA ligase activity, metal ion binding, fatty acid ligase activity, GTP binding, ATP binding, fatty-acyl-CoA synthase activity, acyl-CoA ligase activity, GO:0006637, GO:0006633, acyl-CoA metabolic process, fatty acid biosynthetic process, 0 0 0 1 0 0 0 1 0 ENSG00000173137 chr8 144373101 144393242 + ADCK5 protein_coding 203054 GO:0016021, integral component of membrane, GO:0005515, GO:0004674, protein binding, protein serine/threonine kinase activity, GO:0006468, protein phosphorylation, 7 14 11 20 11 16 14 16 16 ENSG00000173141 chr13 21176645 21179084 + MRPL57 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008]. 78988 GO:0005762, GO:0005761, GO:0005761, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, protein binding, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, 22 20 38 44 19 23 42 21 49 ENSG00000173145 chr10 94333226 94362959 - NOC3L protein_coding 64318 GO:0016607, GO:0005739, GO:0005730, GO:0005730, GO:0005654, nuclear speck, mitochondrion, nucleolus, nucleolus, nucleoplasm, GO:0003723, GO:0003682, RNA binding, chromatin binding, GO:0045444, GO:0006270, fat cell differentiation, DNA replication initiation, 11 1 46 30 6 31 17 11 38 ENSG00000173153 chr11 64305572 64316743 + ESRRA protein_coding The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019]. 2101 GO:0045171, GO:0015630, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001650, GO:0000785, GO:0000785, intercellular bridge, microtubule cytoskeleton, cytoplasm, nucleoplasm, nucleoplasm, nucleus, fibrillar center, chromatin, chromatin, GO:1990837, GO:0043565, GO:0019904, GO:0008270, GO:0005515, GO:0005496, GO:0004879, GO:0003707, GO:0003700, GO:0001228, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein domain specific binding, zinc ion binding, protein binding, steroid binding, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1900078, GO:0051216, GO:0045944, GO:0045670, GO:0045667, GO:0043401, GO:0042127, GO:0032355, GO:0030522, GO:0007005, GO:0006367, GO:0006357, GO:0006355, GO:0000122, positive regulation of cellular response to insulin stimulus, cartilage development, positive regulation of transcription by RNA polymerase II, regulation of osteoclast differentiation, regulation of osteoblast differentiation, steroid hormone mediated signaling pathway, regulation of cell population proliferation, response to estradiol, intracellular receptor signaling pathway, mitochondrion organization, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1077 1009 1260 922 1124 1049 1064 795 814 ENSG00000173156 chr11 67056818 67072013 + RHOD protein_coding Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 29984 GO:0043231, GO:0042995, GO:0031410, GO:0010008, GO:0005938, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005769, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, endosome membrane, cell cortex, plasma membrane, plasma membrane, cytoskeleton, cytosol, early endosome, GO:0019901, GO:0005525, GO:0003924, protein kinase binding, GTP binding, GTPase activity, GO:2000249, GO:0051893, GO:0051056, GO:0051017, GO:0048041, GO:0045785, GO:0032956, GO:0030865, GO:0030335, GO:0030032, GO:0016477, GO:0008360, GO:0007266, GO:0007163, GO:0007015, GO:0006605, regulation of actin cytoskeleton reorganization, regulation of focal adhesion assembly, regulation of small GTPase mediated signal transduction, actin filament bundle assembly, focal adhesion assembly, positive regulation of cell adhesion, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, positive regulation of cell migration, lamellipodium assembly, cell migration, regulation of cell shape, Rho protein signal transduction, establishment or maintenance of cell polarity, actin filament organization, protein targeting, 0 0 0 0 0 0 0 0 0 ENSG00000173157 chr12 43353866 43551921 - ADAMTS20 protein_coding The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011]. 80070 GO:0062023, GO:0031012, GO:0005615, collagen-containing extracellular matrix, extracellular matrix, extracellular space, GO:0008270, GO:0004222, zinc ion binding, metalloendopeptidase activity, GO:0045636, GO:0043066, GO:0030198, GO:0009967, GO:0006508, positive regulation of melanocyte differentiation, negative regulation of apoptotic process, extracellular matrix organization, positive regulation of signal transduction, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000173163 chr2 61888724 62147247 + COMMD1 protein_coding COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009]. 150684 GO:0055037, GO:0031462, GO:0010008, GO:0005829, GO:0005829, GO:0005769, GO:0005768, GO:0005737, GO:0005654, GO:0005654, GO:0005634, recycling endosome, Cul2-RING ubiquitin ligase complex, endosome membrane, cytosol, cytosol, early endosome, endosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0080025, GO:0070300, GO:0043325, GO:0042803, GO:0042802, GO:0019871, GO:0005547, GO:0005546, GO:0005515, GO:0005507, phosphatidylinositol-3,5-bisphosphate binding, phosphatidic acid binding, phosphatidylinositol-3,4-bisphosphate binding, protein homodimerization activity, identical protein binding, sodium channel inhibitor activity, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, copper ion binding, GO:2000009, GO:2000009, GO:1902306, GO:1902306, GO:1902306, GO:0055070, GO:0055070, GO:0048227, GO:0043687, GO:0032434, GO:0032434, GO:0032088, GO:0032088, GO:0031398, GO:0031398, GO:0016567, GO:0015031, GO:0006893, GO:0006289, negative regulation of protein localization to cell surface, negative regulation of protein localization to cell surface, negative regulation of sodium ion transmembrane transport, negative regulation of sodium ion transmembrane transport, negative regulation of sodium ion transmembrane transport, copper ion homeostasis, copper ion homeostasis, plasma membrane to endosome transport, post-translational protein modification, regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, positive regulation of protein ubiquitination, positive regulation of protein ubiquitination, protein ubiquitination, protein transport, Golgi to plasma membrane transport, nucleotide-excision repair, 6 16 9 45 12 16 16 18 16 ENSG00000173166 chr2 203394345 203535410 - RAPH1 protein_coding This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 65059 GO:0030175, GO:0030027, GO:0016604, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, filopodium, lamellipodium, nuclear body, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, GO:0005515, protein binding, GO:0048675, GO:0007165, axon extension, signal transduction, 5 4 2 9 7 13 23 6 0 ENSG00000173171 chr1 155208699 155213824 + MTX1 protein_coding 4580 GO:0140275, GO:0016021, GO:0005737, GO:0001401, GO:0001401, MIB complex, integral component of membrane, cytoplasm, SAM complex, SAM complex, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0015031, GO:0007007, GO:0007005, protein transport, inner mitochondrial membrane organization, mitochondrion organization, 894 778 1015 624 667 674 608 485 657 ENSG00000173175 chr3 123282296 123449758 - ADCY5 protein_coding This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 111 GO:0045111, GO:0016021, GO:0005929, GO:0005887, GO:0005886, GO:0005886, intermediate filament cytoskeleton, integral component of membrane, cilium, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0097110, GO:0046872, GO:0008179, GO:0005524, GO:0004016, GO:0004016, GO:0004016, scaffold protein binding, metal ion binding, adenylate cyclase binding, ATP binding, adenylate cyclase activity, adenylate cyclase activity, adenylate cyclase activity, GO:1904322, GO:0071377, GO:0061178, GO:0050885, GO:0034199, GO:0007626, GO:0007204, GO:0007195, GO:0007193, GO:0007193, GO:0007191, GO:0007190, GO:0007189, GO:0007189, GO:0007189, GO:0007186, GO:0006171, GO:0006171, GO:0006171, GO:0003091, GO:0001973, cellular response to forskolin, cellular response to glucagon stimulus, regulation of insulin secretion involved in cellular response to glucose stimulus, neuromuscular process controlling balance, activation of protein kinase A activity, locomotory behavior, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-inhibiting dopamine receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-activating dopamine receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cAMP biosynthetic process, cAMP biosynthetic process, cAMP biosynthetic process, renal water homeostasis, G protein-coupled adenosine receptor signaling pathway, 0 0 1 5 0 1 2 0 0 ENSG00000173193 chr3 122680618 122730840 + PARP14 protein_coding This gene encodes a member of the poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016]. 54625 GO:0016020, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, GO:1990404, GO:1990404, GO:0019899, GO:0005515, GO:0003950, GO:0003950, GO:0003714, protein ADP-ribosylase activity, protein ADP-ribosylase activity, enzyme binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, transcription corepressor activity, GO:1903507, GO:1902216, GO:0140289, GO:0140289, GO:0070212, GO:0060336, GO:0045087, GO:0042532, GO:0042531, GO:0010629, GO:0010629, GO:0006471, negative regulation of nucleic acid-templated transcription, positive regulation of interleukin-4-mediated signaling pathway, protein mono-ADP-ribosylation, protein mono-ADP-ribosylation, protein poly-ADP-ribosylation, negative regulation of interferon-gamma-mediated signaling pathway, innate immune response, negative regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, negative regulation of gene expression, negative regulation of gene expression, protein ADP-ribosylation, 2987 1960 2988 1834 1983 2388 2380 1303 1999 ENSG00000173198 chrX 78271464 78327691 - CYSLTR1 protein_coding This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for cysteinyl leukotrienes, and is involved in mediating bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system. Activation of the encoded receptor results in contraction and proliferation of bronchial smooth muscle cells, eosinophil migration, and damage to the mucus layer in the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 10800 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0008528, GO:0005515, GO:0004974, GO:0001631, G protein-coupled peptide receptor activity, protein binding, leukotriene receptor activity, cysteinyl leukotriene receptor activity, GO:0061737, GO:0007585, GO:0007218, GO:0007204, GO:0007186, GO:0007166, GO:0006952, GO:0006935, GO:0006816, GO:0002437, leukotriene signaling pathway, respiratory gaseous exchange by respiratory system, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, defense response, chemotaxis, calcium ion transport, inflammatory response to antigenic stimulus, 328 433 533 87 300 148 136 292 196 ENSG00000173200 chr3 122577602 122639047 + PARP15 protein_coding PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008]. 165631 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:1990404, GO:1990404, GO:0070403, GO:0005515, GO:0003950, GO:0003950, GO:0003714, GO:0003714, protein ADP-ribosylase activity, protein ADP-ribosylase activity, NAD+ binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, transcription corepressor activity, transcription corepressor activity, GO:0140289, GO:0140289, GO:0070212, GO:0070212, GO:0010629, GO:0000122, protein mono-ADP-ribosylation, protein mono-ADP-ribosylation, protein poly-ADP-ribosylation, protein poly-ADP-ribosylation, negative regulation of gene expression, negative regulation of transcription by RNA polymerase II, 48 60 121 188 62 251 147 51 180 ENSG00000173207 chr1 154974653 154979249 + CKS1B protein_coding CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]. 1163 GO:0019005, GO:0005654, GO:0000307, SCF ubiquitin ligase complex, nucleoplasm, cyclin-dependent protein kinase holoenzyme complex, GO:0061575, GO:0043130, GO:0042393, GO:0019901, GO:0005515, cyclin-dependent protein serine/threonine kinase activator activity, ubiquitin binding, histone binding, protein kinase binding, protein binding, GO:0051301, GO:0044772, GO:0008283, GO:0007346, GO:0006355, cell division, mitotic cell cycle phase transition, cell population proliferation, regulation of mitotic cell cycle, regulation of transcription, DNA-templated, 3 0 8 8 6 4 5 6 14 ENSG00000173208 chr12 39550033 39619751 - ABCD2 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]. 225 GO:0016021, GO:0005829, GO:0005778, GO:0005778, GO:0005777, integral component of membrane, cytosol, peroxisomal membrane, peroxisomal membrane, peroxisome, GO:0042803, GO:0042626, GO:0016887, GO:0005524, GO:0005515, GO:0005324, protein homodimerization activity, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, protein binding, long-chain fatty acid transporter activity, GO:2001280, GO:1990535, GO:1903427, GO:1900016, GO:0055085, GO:0043217, GO:0042760, GO:0042760, GO:0042760, GO:0032000, GO:0015910, GO:0007031, GO:0006635, GO:0006635, GO:0000038, positive regulation of unsaturated fatty acid biosynthetic process, neuron projection maintenance, negative regulation of reactive oxygen species biosynthetic process, negative regulation of cytokine production involved in inflammatory response, transmembrane transport, myelin maintenance, very long-chain fatty acid catabolic process, very long-chain fatty acid catabolic process, very long-chain fatty acid catabolic process, positive regulation of fatty acid beta-oxidation, long-chain fatty acid import into peroxisome, peroxisome organization, fatty acid beta-oxidation, fatty acid beta-oxidation, very long-chain fatty acid metabolic process, 14 8 32 93 10 119 60 16 67 ENSG00000173209 chr2 61177418 61191203 + AHSA2P transcribed_unitary_pseudogene 130872 GO:0005829, cytosol, GO:0051879, GO:0051087, GO:0005515, GO:0001671, Hsp90 protein binding, chaperone binding, protein binding, ATPase activator activity, GO:0032781, GO:0006457, positive regulation of ATPase activity, protein folding, 1258 1299 1644 1539 1487 1901 1545 1091 1402 ENSG00000173210 chr5 149141483 149260542 + ABLIM3 protein_coding This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]. 22885 GO:0030027, GO:0015629, GO:0005737, GO:0001725, GO:0001725, lamellipodium, actin cytoskeleton, cytoplasm, stress fiber, stress fiber, GO:0051015, GO:0046872, GO:0005515, actin filament binding, metal ion binding, protein binding, GO:1903955, GO:0060271, GO:0060271, GO:0045944, GO:0030036, GO:0030032, GO:0030032, GO:0006351, positive regulation of protein targeting to mitochondrion, cilium assembly, cilium assembly, positive regulation of transcription by RNA polymerase II, actin cytoskeleton organization, lamellipodium assembly, lamellipodium assembly, transcription, DNA-templated, 0 0 0 0 1 0 0 1 0 ENSG00000173212 chr1 116111755 116135240 + MAB21L3 protein_coding 126868 GO:0005515, protein binding, 5 14 25 9 42 52 11 38 24 ENSG00000173213 chr18 47390 49557 - TUBB8P12 protein_coding 260334 GO:0070062, GO:0005874, GO:0005737, extracellular exosome, microtubule, cytoplasm, GO:0005525, GO:0005200, GO:0003924, GTP binding, structural constituent of cytoskeleton, GTPase activity, GO:0000278, GO:0000226, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000173214 chr6 111259348 111271167 + MFSD4B protein_coding 91749 GO:0016324, GO:0016021, apical plasma membrane, integral component of membrane, GO:0015293, GO:0005515, GO:0005355, symporter activity, protein binding, glucose transmembrane transporter activity, GO:1904659, GO:0006814, glucose transmembrane transport, sodium ion transport, 30 34 30 44 40 27 40 40 38 ENSG00000173218 chr1 115641953 115698224 + VANGL1 protein_coding This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. 81839 GO:0016328, GO:0016021, GO:0005886, lateral plasma membrane, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0060071, GO:0043473, GO:0007275, Wnt signaling pathway, planar cell polarity pathway, pigmentation, multicellular organism development, 2 3 3 4 5 17 5 3 4 ENSG00000173221 chr5 95751319 95823005 - GLRX protein_coding This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]. 2745 GO:0070062, GO:0005829, GO:0005634, extracellular exosome, cytosol, nucleus, GO:0097573, GO:0047485, GO:0015038, GO:0009055, GO:0005515, glutathione oxidoreductase activity, protein N-terminus binding, glutathione disulfide oxidoreductase activity, electron transfer activity, protein binding, GO:2000651, GO:0080058, GO:0045838, GO:0022900, GO:0015949, positive regulation of sodium ion transmembrane transporter activity, protein deglutathionylation, positive regulation of membrane potential, electron transport chain, nucleobase-containing small molecule interconversion, 628 458 1273 227 727 518 330 678 516 ENSG00000173226 chr3 121769763 121835079 - IQCB1 protein_coding This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]. 9657 GO:0072686, GO:0070062, GO:0045171, GO:0032391, GO:0015630, GO:0005929, GO:0005829, GO:0005814, GO:0005813, GO:0005654, GO:0001750, mitotic spindle, extracellular exosome, intercellular bridge, photoreceptor connecting cilium, microtubule cytoskeleton, cilium, cytosol, centriole, centrosome, nucleoplasm, photoreceptor outer segment, GO:0019899, GO:0005516, GO:0005515, enzyme binding, calmodulin binding, protein binding, GO:0097711, GO:0060271, GO:0060271, GO:0048496, GO:0045494, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, maintenance of animal organ identity, photoreceptor cell maintenance, 38 55 40 66 73 84 42 51 63 ENSG00000173227 chr11 67006778 67050863 + SYT12 protein_coding This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]. 91683 GO:0098686, GO:0070382, GO:0030672, GO:0016021, GO:0005886, hippocampal mossy fiber to CA3 synapse, exocytic vesicle, synaptic vesicle membrane, integral component of membrane, plasma membrane, GO:0030276, GO:0019905, GO:0005544, GO:0005509, GO:0001786, GO:0000149, clathrin binding, syntaxin binding, calcium-dependent phospholipid binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:0071277, GO:0060291, GO:0048792, GO:0046928, GO:0017158, GO:0017156, GO:0016192, GO:0014059, cellular response to calcium ion, long-term synaptic potentiation, spontaneous exocytosis of neurotransmitter, regulation of neurotransmitter secretion, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, 0 0 0 0 0 0 0 0 0 ENSG00000173230 chr3 121663199 121749767 - GOLGB1 protein_coding 2804 GO:0016021, GO:0016020, GO:0005801, GO:0005795, GO:0005794, GO:0005793, GO:0000139, integral component of membrane, membrane, cis-Golgi network, Golgi stack, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, Golgi membrane, GO:0043565, GO:0005515, GO:0003723, sequence-specific DNA binding, protein binding, RNA binding, GO:1905793, GO:0007030, GO:0006888, GO:0006355, protein localization to pericentriolar material, Golgi organization, endoplasmic reticulum to Golgi vesicle-mediated transport, regulation of transcription, DNA-templated, 3181 3061 4299 1385 1696 1950 1717 1271 1659 ENSG00000173231 chr21 13776086 13777266 + TERF1P1 processed_pseudogene 0 2 1 0 0 0 0 0 5 ENSG00000173237 chr11 66975277 66977004 + C11orf86 protein_coding 254439 0 0 0 0 0 0 0 0 0 ENSG00000173239 chr10 88802730 88820546 + LIPM protein_coding 340654 GO:0005576, extracellular region, GO:0016788, hydrolase activity, acting on ester bonds, GO:0070268, GO:0016042, cornification, lipid catabolic process, 2 2 4 0 2 3 0 0 0 ENSG00000173250 chr5 146513103 146516190 - GPR151 protein_coding This gene encodes an orphan member of the class A rhodopsin-like family of G-protein-coupled receptors (GPCRs). Within the rhodopsin-like family, this gene is a member of the SOG subfamily that includes somatostatin, opioid, galanin, and kisspeptin receptors. The orthologous mouse gene has a restricted pattern of neuronal expression which is induced following nerve injury. All GPCRs have a transmembrane domain that includes seven transmembrane alpha-helices. A general feature of GPCR signaling is the agonist-induced conformational change in the receptor, leading to activation of the heterotrimeric G protein. The activated G protein then binds to and activates numerous downstream effector proteins, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]. 134391 GO:0005887, integral component of plasma membrane, GO:0042802, GO:0005515, GO:0004930, GO:0004930, identical protein binding, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0050778, GO:0010447, GO:0007186, GO:0007186, GO:0002931, positive regulation of immune response, response to acidic pH, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, response to ischemia, 0 0 0 0 0 0 0 0 0 ENSG00000173253 chr9 1049858 1057552 + DMRT2 protein_coding The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]. 10655 GO:0005634, GO:0005575, GO:0000785, nucleus, cellular_component, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0001228, GO:0000981, GO:0000981, GO:0000978, metal ion binding, protein binding, molecular_function, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000287, GO:0048706, GO:0045944, GO:0014807, GO:0008150, GO:0007548, GO:0006357, positive regulation of myotome development, embryonic skeletal system development, positive regulation of transcription by RNA polymerase II, regulation of somitogenesis, biological_process, sex differentiation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000173258 chr9 111525159 111577844 + ZNF483 protein_coding 158399 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 11 11 14 1 8 19 1 7 ENSG00000173261 chr5 146084386 146104369 - PLAC8L1 protein_coding 153770 0 0 0 0 0 0 0 0 0 ENSG00000173262 chr12 7812512 7891148 - SLC2A14 protein_coding Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM, Mar 2008]. 144195 GO:0016021, GO:0005886, GO:0005886, GO:0005634, integral component of membrane, plasma membrane, plasma membrane, nucleus, GO:0033300, GO:0005355, dehydroascorbic acid transmembrane transporter activity, glucose transmembrane transporter activity, GO:1904659, GO:1904659, GO:0070837, GO:0030154, GO:0007283, GO:0007275, glucose transmembrane transport, glucose transmembrane transport, dehydroascorbic acid transport, cell differentiation, spermatogenesis, multicellular organism development, 30 51 25 27 49 72 35 40 28 ENSG00000173264 chr11 64270062 64289500 + GPR137 protein_coding 56834 GO:0016021, GO:0005765, GO:0005765, integral component of membrane, lysosomal membrane, lysosomal membrane, GO:1904263, GO:0045779, GO:0045671, GO:0010506, GO:0006914, positive regulation of TORC1 signaling, negative regulation of bone resorption, negative regulation of osteoclast differentiation, regulation of autophagy, autophagy, 232 220 279 136 253 195 194 202 225 ENSG00000173267 chr10 86958618 86963260 + SNCG protein_coding This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010]. 6623 GO:0070062, GO:0048471, GO:0043679, GO:0043025, GO:0016604, GO:0005819, GO:0005813, GO:0005737, GO:0005737, extracellular exosome, perinuclear region of cytoplasm, axon terminus, neuronal cell body, nuclear body, spindle, centrosome, cytoplasm, cytoplasm, GO:1903136, GO:0005515, cuprous ion binding, protein binding, GO:1901214, GO:0050808, GO:0048488, GO:0046928, GO:0014059, GO:0009306, GO:0008344, GO:0007268, regulation of neuron death, synapse organization, synaptic vesicle endocytosis, regulation of neurotransmitter secretion, regulation of dopamine secretion, protein secretion, adult locomotory behavior, chemical synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000173269 chr10 86935540 86969481 - MMRN2 protein_coding This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]. 79812 GO:0070062, GO:0062023, GO:0005615, GO:0005604, extracellular exosome, collagen-containing extracellular matrix, extracellular space, basement membrane, GO:0005515, GO:0005201, protein binding, extracellular matrix structural constituent, GO:0090051, GO:0090051, GO:0030948, GO:0030948, GO:0002042, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of vascular endothelial growth factor receptor signaling pathway, cell migration involved in sprouting angiogenesis, 0 1 1 0 0 0 0 0 0 ENSG00000173272 chr2 131464900 131492743 - MZT2A protein_coding 653784 GO:0008274, GO:0008274, GO:0005829, GO:0005829, GO:0005819, GO:0005819, GO:0005813, GO:0005813, GO:0005813, GO:0005654, gamma-tubulin ring complex, gamma-tubulin ring complex, cytosol, cytosol, spindle, spindle, centrosome, centrosome, centrosome, nucleoplasm, GO:0005515, protein binding, 33 24 60 62 51 135 56 40 62 ENSG00000173273 chr8 9555914 9782346 + TNKS protein_coding 8658 GO:0097431, GO:0031965, GO:0031965, GO:0016604, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005643, GO:0005634, GO:0000781, GO:0000242, GO:0000139, mitotic spindle pole, nuclear membrane, nuclear membrane, nuclear body, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nuclear pore, nucleus, chromosome, telomeric region, pericentriolar material, Golgi membrane, GO:1990404, GO:0042393, GO:0008270, GO:0005515, GO:0003950, GO:0003950, GO:0003950, protein ADP-ribosylase activity, histone binding, zinc ion binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, GO:1904908, GO:1904743, GO:1904743, GO:1904357, GO:1904355, GO:1904355, GO:1904355, GO:0090263, GO:0090263, GO:0090263, GO:0070213, GO:0070212, GO:0070212, GO:0070198, GO:0070198, GO:0051973, GO:0051301, GO:0051225, GO:0051028, GO:0045944, GO:0032212, GO:0032212, GO:0032210, GO:0031670, GO:0018107, GO:0018105, GO:0016055, GO:0015031, GO:0007052, GO:0006471, GO:0006471, GO:0000209, negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric, negative regulation of telomeric DNA binding, negative regulation of telomeric DNA binding, negative regulation of telomere maintenance via telomere lengthening, positive regulation of telomere capping, positive regulation of telomere capping, positive regulation of telomere capping, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, protein auto-ADP-ribosylation, protein poly-ADP-ribosylation, protein poly-ADP-ribosylation, protein localization to chromosome, telomeric region, protein localization to chromosome, telomeric region, positive regulation of telomerase activity, cell division, spindle assembly, mRNA transport, positive regulation of transcription by RNA polymerase II, positive regulation of telomere maintenance via telomerase, positive regulation of telomere maintenance via telomerase, regulation of telomere maintenance via telomerase, cellular response to nutrient, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, protein transport, mitotic spindle organization, protein ADP-ribosylation, protein ADP-ribosylation, protein polyubiquitination, 493 571 549 370 534 534 414 390 420 ENSG00000173275 chrX 135344796 135363152 + ZNF449 protein_coding This gene encodes a nuclear protein that likely functions as a transcription factor. The protein includes an N-terminal SCAN domain, and seven C2H2-type zinc finger motifs. [provided by RefSeq, May 2010]. 203523 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007284, GO:0006357, spermatogonial cell division, regulation of transcription by RNA polymerase II, 21 29 17 29 19 16 29 28 30 ENSG00000173276 chr21 41986831 42010387 - ZBTB21 protein_coding 49854 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0043565, GO:0031208, GO:0008327, GO:0005515, GO:0001227, GO:0000981, metal ion binding, sequence-specific DNA binding, POZ domain binding, methyl-CpG binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0045892, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1168 1264 1198 1781 1838 2150 1670 1327 1518 ENSG00000173281 chr8 9136255 9151574 - PPP1R3B protein_coding This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]. 79660 GO:0043231, GO:0042587, GO:0000164, intracellular membrane-bounded organelle, glycogen granule, protein phosphatase type 1 complex, GO:2001069, GO:0050196, GO:0019888, GO:0008157, GO:0005515, glycogen binding, [phosphorylase] phosphatase activity, protein phosphatase regulator activity, protein phosphatase 1 binding, protein binding, GO:0043666, GO:0006470, GO:0005981, GO:0005979, GO:0005977, regulation of phosphoprotein phosphatase activity, protein dephosphorylation, regulation of glycogen catabolic process, regulation of glycogen biosynthetic process, glycogen metabolic process, 2174 1724 3115 761 1202 1156 912 1013 1212 ENSG00000173285 chr1 158461574 158470857 + OR10K1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391109 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000173295 chr8 8228595 8244865 + FAM86B3P transcribed_unprocessed_pseudogene 286042 1654 2388 1788 1610 2277 1346 1564 1934 1085 ENSG00000173302 chr2 130729070 130730336 + GPR148 protein_coding 344561 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0005515, GO:0004984, GO:0004930, odorant binding, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000173320 chr4 183797692 184023526 + STOX2 protein_coding This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 56977 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0009792, GO:0009617, GO:0006357, GO:0001893, embryo development ending in birth or egg hatching, response to bacterium, regulation of transcription by RNA polymerase II, maternal placenta development, 0 0 2 0 7 3 0 0 5 ENSG00000173327 chr11 65597755 65615382 - MAP3K11 protein_coding The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]. 4296 GO:0016020, GO:0005874, GO:0005813, GO:0005813, GO:0005737, membrane, microtubule, centrosome, centrosome, cytoplasm, GO:0042803, GO:0042802, GO:0031435, GO:0031434, GO:0031267, GO:0005524, GO:0005515, GO:0004706, GO:0004706, GO:0004674, GO:0004672, protein homodimerization activity, identical protein binding, mitogen-activated protein kinase kinase kinase binding, mitogen-activated protein kinase kinase binding, small GTPase binding, ATP binding, protein binding, JUN kinase kinase kinase activity, JUN kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0046777, GO:0046330, GO:0044843, GO:0043525, GO:0043507, GO:0043065, GO:0008219, GO:0007257, GO:0007257, GO:0007256, GO:0007254, GO:0007017, GO:0007017, GO:0006468, GO:0000187, protein autophosphorylation, positive regulation of JNK cascade, cell cycle G1/S phase transition, positive regulation of neuron apoptotic process, positive regulation of JUN kinase activity, positive regulation of apoptotic process, cell death, activation of JUN kinase activity, activation of JUN kinase activity, activation of JNKK activity, JNK cascade, microtubule-based process, microtubule-based process, protein phosphorylation, activation of MAPK activity, 6000 5143 9039 3029 3486 4400 3903 2991 3809 ENSG00000173334 chr8 125430321 125438405 + TRIB1 protein_coding 10221 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0055106, GO:0031625, GO:0031434, GO:0031434, GO:0008134, GO:0005524, GO:0005515, GO:0004860, GO:0004672, ubiquitin-protein transferase regulator activity, ubiquitin protein ligase binding, mitogen-activated protein kinase kinase binding, mitogen-activated protein kinase kinase binding, transcription factor binding, ATP binding, protein binding, protein kinase inhibitor activity, protein kinase activity, GO:0048662, GO:0045659, GO:0045651, GO:0045645, GO:0043433, GO:0043433, GO:0043405, GO:0043405, GO:0032496, GO:0032496, GO:0032436, GO:0032436, GO:0031665, GO:0014912, GO:0007254, GO:0006469, GO:0006468, negative regulation of smooth muscle cell proliferation, negative regulation of neutrophil differentiation, positive regulation of macrophage differentiation, positive regulation of eosinophil differentiation, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA-binding transcription factor activity, regulation of MAP kinase activity, regulation of MAP kinase activity, response to lipopolysaccharide, response to lipopolysaccharide, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of lipopolysaccharide-mediated signaling pathway, negative regulation of smooth muscle cell migration, JNK cascade, negative regulation of protein kinase activity, protein phosphorylation, 10530 15231 17281 25275 18751 31457 31610 20394 28097 ENSG00000173335 chr20 23602410 23605876 - CST9 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. [provided by RefSeq, Jul 2008]. 128822 GO:0005615, extracellular space, GO:0004869, cysteine-type endopeptidase inhibitor activity, GO:0019730, GO:0019730, GO:0010951, antimicrobial humoral response, antimicrobial humoral response, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000173338 chr11 65592855 65595996 - KCNK7 protein_coding This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 10089 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0022841, GO:0005267, GO:0005244, potassium ion leak channel activity, potassium channel activity, voltage-gated ion channel activity, GO:0071805, GO:0034765, GO:0030322, GO:0006813, potassium ion transmembrane transport, regulation of ion transmembrane transport, stabilization of membrane potential, potassium ion transport, 187 281 248 143 249 234 200 241 226 ENSG00000173349 chr2 127701508 127705242 + SFT2D3 protein_coding 84826 GO:0016021, integral component of membrane, GO:0016192, GO:0015031, vesicle-mediated transport, protein transport, 47 55 53 49 69 88 55 52 38 ENSG00000173357 chrY 8906224 8916073 + AC007967.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000173366 chr3 52221081 52231190 - AC097637.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000173369 chr1 22652762 22661538 + C1QB protein_coding This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]. 713 GO:0098794, GO:0072562, GO:0062023, GO:0045202, GO:0005602, GO:0005581, GO:0005576, postsynapse, blood microparticle, collagen-containing extracellular matrix, synapse, complement component C1 complex, collagen trimer, extracellular region, GO:0005515, protein binding, GO:0098883, GO:0045087, GO:0030449, GO:0006958, GO:0006956, synapse pruning, innate immune response, regulation of complement activation, complement activation, classical pathway, complement activation, 0 0 1 0 0 0 0 0 0 ENSG00000173372 chr1 22636506 22639608 + C1QA protein_coding This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 712 GO:0098794, GO:0062023, GO:0045202, GO:0005602, GO:0005581, GO:0005576, postsynapse, collagen-containing extracellular matrix, synapse, complement component C1 complex, collagen trimer, extracellular region, GO:0005515, GO:0001540, protein binding, amyloid-beta binding, GO:1901216, GO:0150064, GO:0150062, GO:0098883, GO:0050808, GO:0048143, GO:0045087, GO:0030449, GO:0016322, GO:0016032, GO:0010039, GO:0007568, GO:0007267, GO:0006958, GO:0006956, GO:0001774, positive regulation of neuron death, vertebrate eye-specific patterning, complement-mediated synapse pruning, synapse pruning, synapse organization, astrocyte activation, innate immune response, regulation of complement activation, neuron remodeling, viral process, response to iron ion, aging, cell-cell signaling, complement activation, classical pathway, complement activation, microglial cell activation, 0 0 0 3 0 0 0 0 0 ENSG00000173376 chr4 121035613 121073021 - NDNF protein_coding 79625 GO:0031012, GO:0005576, extracellular matrix, extracellular region, GO:0008201, GO:0008201, GO:0005539, heparin binding, heparin binding, glycosaminoglycan binding, GO:2000352, GO:0071456, GO:0061042, GO:0043524, GO:0030198, GO:0030198, GO:0019800, GO:0019800, GO:0010976, GO:0010811, GO:0007263, GO:0002931, GO:0001764, GO:0001525, negative regulation of endothelial cell apoptotic process, cellular response to hypoxia, vascular wound healing, negative regulation of neuron apoptotic process, extracellular matrix organization, extracellular matrix organization, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, positive regulation of neuron projection development, positive regulation of cell-substrate adhesion, nitric oxide mediated signal transduction, response to ischemia, neuron migration, angiogenesis, 0 0 1 0 0 0 0 0 0 ENSG00000173389 chr3 51894876 51903335 - IQCF1 protein_coding 132141 GO:0001669, GO:0001669, acrosomal vesicle, acrosomal vesicle, GO:0005516, calmodulin binding, GO:2000344, GO:2000344, GO:0060474, positive regulation of acrosome reaction, positive regulation of acrosome reaction, positive regulation of flagellated sperm motility involved in capacitation, 0 0 0 0 0 0 0 0 0 ENSG00000173391 chr12 10158301 10172138 - OLR1 protein_coding This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]. 4973 GO:0070821, GO:0045121, GO:0043235, GO:0043235, GO:0043231, GO:0035579, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005654, GO:0005576, tertiary granule membrane, membrane raft, receptor complex, receptor complex, intracellular membrane-bounded organelle, specific granule membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, nucleoplasm, extracellular region, GO:0042802, GO:0030246, GO:0005515, GO:0005041, identical protein binding, carbohydrate binding, protein binding, low-density lipoprotein particle receptor activity, GO:0050900, GO:0043312, GO:0042157, GO:0008219, GO:0008015, GO:0007159, GO:0006954, GO:0006897, GO:0006508, leukocyte migration, neutrophil degranulation, lipoprotein metabolic process, cell death, blood circulation, leukocyte cell-cell adhesion, inflammatory response, endocytosis, proteolysis, 24 25 141 68 57 188 293 133 253 ENSG00000173401 chr12 75334639 75370560 + GLIPR1L1 protein_coding 256710 GO:0045121, GO:0031225, GO:0005886, GO:0005615, GO:0001669, membrane raft, anchored component of membrane, plasma membrane, extracellular space, acrosomal vesicle, GO:0007338, single fertilization, 0 1 0 0 0 0 1 0 2 ENSG00000173402 chr3 49468703 49535618 + DAG1 protein_coding This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]. 1605 GO:0099524, GO:0098982, GO:0098978, GO:0070938, GO:0070062, GO:0062023, GO:0045211, GO:0044853, GO:0043034, GO:0042383, GO:0034399, GO:0033268, GO:0030175, GO:0030027, GO:0016021, GO:0016011, GO:0016010, GO:0009925, GO:0009897, GO:0005925, GO:0005925, GO:0005912, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005796, GO:0005788, GO:0005737, GO:0005654, GO:0005615, GO:0005615, GO:0005615, GO:0005604, GO:0005604, GO:0005576, GO:0005576, postsynaptic cytosol, GABA-ergic synapse, glutamatergic synapse, contractile ring, extracellular exosome, collagen-containing extracellular matrix, postsynaptic membrane, plasma membrane raft, costamere, sarcolemma, nuclear periphery, node of Ranvier, filopodium, lamellipodium, integral component of membrane, dystroglycan complex, dystrophin-associated glycoprotein complex, basal plasma membrane, external side of plasma membrane, focal adhesion, focal adhesion, adherens junction, plasma membrane, plasma membrane, cytoskeleton, cytosol, Golgi lumen, endoplasmic reticulum lumen, cytoplasm, nucleoplasm, extracellular space, extracellular space, extracellular space, basement membrane, basement membrane, extracellular region, extracellular region, GO:0051393, GO:0043237, GO:0043236, GO:0042169, GO:0017166, GO:0015631, GO:0008307, GO:0005515, GO:0005509, GO:0003779, GO:0002162, GO:0001618, alpha-actinin binding, laminin-1 binding, laminin binding, SH2 domain binding, vinculin binding, tubulin binding, structural constituent of muscle, protein binding, calcium ion binding, actin binding, dystroglycan binding, virus receptor activity, GO:1904261, GO:0098942, GO:0071711, GO:0071679, GO:0071397, GO:0071260, GO:0060445, GO:0060441, GO:0060055, GO:0051898, GO:0048714, GO:0046718, GO:0045860, GO:0043434, GO:0043409, GO:0043403, GO:0034453, GO:0031643, GO:0031103, GO:0030336, GO:0030198, GO:0022011, GO:0021682, GO:0021675, GO:0019048, GO:0016476, GO:0016340, GO:0016203, GO:0014894, GO:0010717, GO:0010470, GO:0007568, GO:0007411, GO:0006509, GO:0002011, GO:0002009, GO:0001954, positive regulation of basement membrane assembly involved in embryonic body morphogenesis, retrograde trans-synaptic signaling by trans-synaptic protein complex, basement membrane organization, commissural neuron axon guidance, cellular response to cholesterol, cellular response to mechanical stimulus, branching involved in salivary gland morphogenesis, epithelial tube branching involved in lung morphogenesis, angiogenesis involved in wound healing, negative regulation of protein kinase B signaling, positive regulation of oligodendrocyte differentiation, viral entry into host cell, positive regulation of protein kinase activity, response to peptide hormone, negative regulation of MAPK cascade, skeletal muscle tissue regeneration, microtubule anchoring, positive regulation of myelination, axon regeneration, negative regulation of cell migration, extracellular matrix organization, myelination in peripheral nervous system, nerve maturation, nerve development, modulation by virus of host process, regulation of embryonic cell shape, calcium-dependent cell-matrix adhesion, muscle attachment, response to denervation involved in regulation of muscle adaptation, regulation of epithelial to mesenchymal transition, regulation of gastrulation, aging, axon guidance, membrane protein ectodomain proteolysis, morphogenesis of an epithelial sheet, morphogenesis of an epithelium, positive regulation of cell-matrix adhesion, 60 35 57 34 35 52 39 33 47 ENSG00000173404 chr20 20368121 20370949 + INSM1 protein_coding Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]. 3642 GO:0017053, GO:0017053, GO:0005654, GO:0005634, GO:0005634, transcription repressor complex, transcription repressor complex, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0042826, GO:0031490, GO:0030332, GO:0003700, GO:0001227, GO:0001227, GO:0000978, GO:0000978, metal ion binding, histone deacetylase binding, chromatin DNA binding, cyclin binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000179, GO:0071158, GO:0061549, GO:0061104, GO:0060290, GO:0045597, GO:0043254, GO:0042421, GO:0031018, GO:0030335, GO:0030182, GO:0010564, GO:0010468, GO:0008285, GO:0007049, GO:0003358, GO:0003323, GO:0003310, GO:0003309, GO:0001933, GO:0000122, GO:0000122, positive regulation of neural precursor cell proliferation, positive regulation of cell cycle arrest, sympathetic ganglion development, adrenal chromaffin cell differentiation, transdifferentiation, positive regulation of cell differentiation, regulation of protein-containing complex assembly, norepinephrine biosynthetic process, endocrine pancreas development, positive regulation of cell migration, neuron differentiation, regulation of cell cycle process, regulation of gene expression, negative regulation of cell population proliferation, cell cycle, noradrenergic neuron development, type B pancreatic cell development, pancreatic A cell differentiation, type B pancreatic cell differentiation, negative regulation of protein phosphorylation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 4 ENSG00000173406 chr1 56994778 58546734 - DAB1 protein_coding The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]. 1600 GO:0048471, GO:0045177, GO:0043231, GO:0043025, GO:0043005, GO:0016020, GO:0014069, GO:0005903, GO:0005829, GO:0005737, perinuclear region of cytoplasm, apical part of cell, intracellular membrane-bounded organelle, neuronal cell body, neuron projection, membrane, postsynaptic density, brush border, cytosol, cytoplasm, GO:0043548, GO:0005515, phosphatidylinositol 3-kinase binding, protein binding, GO:0097477, GO:0051645, GO:0050771, GO:0048712, GO:0046426, GO:0045860, GO:0045666, GO:0042493, GO:0021942, GO:0021813, GO:0021766, GO:0021589, GO:0021517, GO:0016358, GO:0007628, GO:0007494, GO:0007411, GO:0007264, GO:0007162, lateral motor column neuron migration, Golgi localization, negative regulation of axonogenesis, negative regulation of astrocyte differentiation, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of protein kinase activity, positive regulation of neuron differentiation, response to drug, radial glia guided migration of Purkinje cell, cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration, hippocampus development, cerebellum structural organization, ventral spinal cord development, dendrite development, adult walking behavior, midgut development, axon guidance, small GTPase mediated signal transduction, negative regulation of cell adhesion, 2 1 2 2 3 0 6 2 3 ENSG00000173409 chr1 230978981 231000595 + ARV1 protein_coding this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]. 64801 GO:0032541, GO:0016021, GO:0005794, GO:0005789, GO:0005789, cortical endoplasmic reticulum, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0015248, GO:0005515, sterol transporter activity, protein binding, GO:0097036, GO:0090181, GO:0032383, GO:0032366, GO:0030301, GO:0016125, GO:0008206, GO:0006695, GO:0006665, regulation of plasma membrane sterol distribution, regulation of cholesterol metabolic process, regulation of intracellular cholesterol transport, intracellular sterol transport, cholesterol transport, sterol metabolic process, bile acid metabolic process, cholesterol biosynthetic process, sphingolipid metabolic process, 3 9 20 7 17 12 10 14 13 ENSG00000173418 chr20 20017116 20033655 + NAA20 protein_coding NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]. 51126 GO:0031416, GO:0005829, GO:0005737, GO:0005634, NatB complex, cytosol, cytoplasm, nucleus, GO:0004596, peptide alpha-N-acetyltransferase activity, GO:0017196, N-terminal peptidyl-methionine acetylation, 38 23 49 36 36 37 54 34 29 ENSG00000173421 chr3 49198428 49258104 + CCDC36 protein_coding 339834 GO:0000794, GO:0000794, condensed nuclear chromosome, condensed nuclear chromosome, GO:0005515, protein binding, GO:0060629, GO:0048477, GO:0042138, GO:0042138, GO:0007283, GO:0007129, GO:0007129, GO:0006310, regulation of homologous chromosome segregation, oogenesis, meiotic DNA double-strand break formation, meiotic DNA double-strand break formation, spermatogenesis, homologous chromosome pairing at meiosis, homologous chromosome pairing at meiosis, DNA recombination, 29 59 30 43 82 90 40 45 32 ENSG00000173431 chr14 21057822 21058455 + RNASE8 protein_coding The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein is expressed prominently in the placenta and exhibits antimicrobial activity against pathogenic bacteria and fungi. [provided by RefSeq, Oct 2014]. 122665 GO:0005615, extracellular space, GO:0004540, GO:0004522, GO:0003676, ribonuclease activity, ribonuclease A activity, nucleic acid binding, GO:0090502, GO:0061760, GO:0050832, GO:0050830, GO:0050830, GO:0050829, GO:0050829, GO:0050829, GO:0045087, GO:0045087, RNA phosphodiester bond hydrolysis, endonucleolytic, antifungal innate immune response, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, innate immune response, innate immune response, 0 1 0 0 0 0 0 0 0 ENSG00000173432 chr11 18266174 18269977 + SAA1 protein_coding This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Jul 2020]. 6288 GO:0071682, GO:0070062, GO:0034364, GO:0005881, GO:0005576, GO:0005576, endocytic vesicle lumen, extracellular exosome, high-density lipoprotein particle, cytoplasmic microtubule, extracellular region, extracellular region, GO:0008201, GO:0001664, heparin binding, G protein-coupled receptor binding, GO:0050728, GO:0050708, GO:0048247, GO:0048246, GO:0045785, GO:0045785, GO:0045087, GO:0044267, GO:0032732, GO:0030593, GO:0030168, GO:0019221, GO:0007204, GO:0007204, GO:0007186, GO:0006953, GO:0006898, GO:0001819, GO:0000187, negative regulation of inflammatory response, regulation of protein secretion, lymphocyte chemotaxis, macrophage chemotaxis, positive regulation of cell adhesion, positive regulation of cell adhesion, innate immune response, cellular protein metabolic process, positive regulation of interleukin-1 production, neutrophil chemotaxis, platelet activation, cytokine-mediated signaling pathway, positive regulation of cytosolic calcium ion concentration, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, acute-phase response, receptor-mediated endocytosis, positive regulation of cytokine production, activation of MAPK activity, 0 2 0 0 0 0 2 0 0 ENSG00000173436 chr1 19484403 19629821 + MINOS1 protein_coding 440574 GO:0140275, GO:0061617, GO:0005739, GO:0005739, GO:0005739, GO:0001401, MIB complex, MICOS complex, mitochondrion, mitochondrion, mitochondrion, SAM complex, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, GO:0007007, biological_process, inner mitochondrial membrane organization, 26 20 26 36 21 18 30 17 29 ENSG00000173442 chr11 65576038 65592650 + EHBP1L1 protein_coding 254102 GO:0031941, GO:0016020, GO:0005815, GO:0005768, filamentous actin, membrane, microtubule organizing center, endosome, GO:0003674, molecular_function, GO:0030036, GO:0008150, actin cytoskeleton organization, biological_process, 7515 7056 9519 4466 6413 5766 4879 5108 4724 ENSG00000173451 chr12 71663009 71680639 + THAP2 protein_coding 83591 GO:0005730, GO:0005634, nucleolus, nucleus, GO:0046872, GO:0003677, metal ion binding, DNA binding, 198 211 319 214 287 476 341 283 384 ENSG00000173452 chr7 19719310 19773598 - TMEM196 protein_coding 256130 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000173456 chr11 119334527 119337313 + RNF26 protein_coding The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. [provided by RefSeq, Jul 2008]. 79102 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:1905719, GO:0070979, GO:0050687, GO:0032479, GO:0016567, GO:0007032, protein localization to perinuclear region of cytoplasm, protein K11-linked ubiquitination, negative regulation of defense response to virus, regulation of type I interferon production, protein ubiquitination, endosome organization, 19 26 27 31 13 15 18 18 11 ENSG00000173457 chr11 64244480 64246941 - PPP1R14B protein_coding 26472 GO:0005737, cytoplasm, GO:0004865, protein serine/threonine phosphatase inhibitor activity, GO:0045087, GO:0042325, GO:0032515, innate immune response, regulation of phosphorylation, negative regulation of phosphoprotein phosphatase activity, 8 9 7 13 12 40 6 15 17 ENSG00000173464 chr14 20583559 20609884 - RNASE11 protein_coding 122651 GO:0005576, extracellular region, GO:0005515, GO:0004540, GO:0004519, GO:0003676, protein binding, ribonuclease activity, endonuclease activity, nucleic acid binding, GO:0090501, RNA phosphodiester bond hydrolysis, 0 0 0 0 0 0 0 0 0 ENSG00000173465 chr11 65570430 65573942 + SSSCA1 protein_coding This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]. 10534 GO:0005515, protein binding, GO:0051301, GO:0000278, cell division, mitotic cell cycle, 101 107 193 47 66 104 62 59 56 ENSG00000173467 chr7 16859405 16881987 - AGR3 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]. 155465 GO:0043231, GO:0005783, GO:0005783, intracellular membrane-bounded organelle, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0002162, GO:0002162, protein binding, dystroglycan binding, dystroglycan binding, GO:0060548, GO:0008150, negative regulation of cell death, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000173473 chr3 47585272 47782106 - SMARCC1 protein_coding The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]. 6599 GO:0071565, GO:0071565, GO:0071564, GO:0071564, GO:0032991, GO:0016514, GO:0016514, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001741, GO:0000785, nBAF complex, nBAF complex, npBAF complex, npBAF complex, protein-containing complex, SWI/SNF complex, SWI/SNF complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, XY body, chromatin, GO:0047485, GO:0042393, GO:0031492, GO:0005515, GO:0003713, protein N-terminus binding, histone binding, nucleosomal DNA binding, protein binding, transcription coactivator activity, GO:0045944, GO:0045893, GO:0045893, GO:0043044, GO:0043044, GO:0032435, GO:0009887, GO:0008286, GO:0007399, GO:0006357, GO:0006338, GO:0006337, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, ATP-dependent chromatin remodeling, ATP-dependent chromatin remodeling, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, animal organ morphogenesis, insulin receptor signaling pathway, nervous system development, regulation of transcription by RNA polymerase II, chromatin remodeling, nucleosome disassembly, 974 926 1203 466 744 653 639 548 575 ENSG00000173480 chr19 57900296 57916610 - ZNF417 protein_coding 147687 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 282 249 286 233 270 260 259 241 240 ENSG00000173482 chr18 7566782 8406861 + PTPRM protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 5797 GO:0048471, GO:0030027, GO:0005912, GO:0005911, GO:0005887, GO:0005886, GO:0005737, perinuclear region of cytoplasm, lamellipodium, adherens junction, cell-cell junction, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0045296, GO:0042802, GO:0005515, GO:0005001, GO:0004725, GO:0004725, cadherin binding, identical protein binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0097755, GO:0042493, GO:0035335, GO:0031290, GO:0031175, GO:0031175, GO:0016525, GO:0010842, GO:0010596, GO:0007165, GO:0007156, GO:0006470, GO:0006470, GO:0001937, positive regulation of blood vessel diameter, response to drug, peptidyl-tyrosine dephosphorylation, retinal ganglion cell axon guidance, neuron projection development, neuron projection development, negative regulation of angiogenesis, retina layer formation, negative regulation of endothelial cell migration, signal transduction, homophilic cell adhesion via plasma membrane adhesion molecules, protein dephosphorylation, protein dephosphorylation, negative regulation of endothelial cell proliferation, 9 5 28 17 9 27 33 1 37 ENSG00000173486 chr11 64241003 64244132 + FKBP2 protein_coding The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]. 2286 GO:0005789, GO:0005783, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005528, GO:0005515, GO:0003755, FK506 binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, GO:0000413, protein peptidyl-prolyl isomerization, 170 136 196 214 140 266 205 134 242 ENSG00000173511 chr11 64234538 64238793 + VEGFB protein_coding This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011]. 7423 GO:0031093, GO:0016020, GO:0005615, GO:0005576, platelet alpha granule lumen, membrane, extracellular space, extracellular region, GO:0043183, GO:0042802, GO:0042056, GO:0008201, GO:0008083, GO:0005515, GO:0005172, vascular endothelial growth factor receptor 1 binding, identical protein binding, chemoattractant activity, heparin binding, growth factor activity, protein binding, vascular endothelial growth factor receptor binding, GO:0060976, GO:0060754, GO:0060048, GO:0051781, GO:0050930, GO:0050918, GO:0048010, GO:0048010, GO:0045766, GO:0042493, GO:0038084, GO:0006493, GO:0002576, GO:0002040, GO:0001938, GO:0001934, GO:0001666, coronary vasculature development, positive regulation of mast cell chemotaxis, cardiac muscle contraction, positive regulation of cell division, induction of positive chemotaxis, positive chemotaxis, vascular endothelial growth factor receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, positive regulation of angiogenesis, response to drug, vascular endothelial growth factor signaling pathway, protein O-linked glycosylation, platelet degranulation, sprouting angiogenesis, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, response to hypoxia, 31 11 36 57 31 70 42 16 40 ENSG00000173517 chr15 77100656 77420144 - PEAK1 protein_coding This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]. 79834 GO:0015629, GO:0015629, GO:0005925, GO:0005925, GO:0005737, actin cytoskeleton, actin cytoskeleton, focal adhesion, focal adhesion, cytoplasm, GO:0042802, GO:0005524, GO:0005515, GO:0004715, GO:0004672, identical protein binding, ATP binding, protein binding, non-membrane spanning protein tyrosine kinase activity, protein kinase activity, GO:0051893, GO:0048041, GO:0046777, GO:0034446, GO:0018108, GO:0016477, GO:0016477, GO:0006468, regulation of focal adhesion assembly, focal adhesion assembly, protein autophosphorylation, substrate adhesion-dependent cell spreading, peptidyl-tyrosine phosphorylation, cell migration, cell migration, protein phosphorylation, 146 145 187 91 162 121 129 113 82 ENSG00000173530 chr8 23135588 23164030 - TNFRSF10D protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [provided by RefSeq, Jul 2008]. 8793 GO:0016021, GO:0009986, GO:0005886, GO:0005886, integral component of membrane, cell surface, plasma membrane, plasma membrane, GO:0045569, GO:0005515, GO:0004888, TRAIL binding, protein binding, transmembrane signaling receptor activity, GO:0050900, GO:0043066, GO:0042981, GO:0007166, GO:0007165, GO:0006915, leukocyte migration, negative regulation of apoptotic process, regulation of apoptotic process, cell surface receptor signaling pathway, signal transduction, apoptotic process, 37 42 121 102 81 142 107 71 77 ENSG00000173531 chr3 49683947 49689501 - MST1 protein_coding The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds. [provided by RefSeq, Jan 2010]. 4485 GO:0062023, GO:0005615, GO:0005576, collagen-containing extracellular matrix, extracellular space, extracellular region, GO:0030971, GO:0005515, GO:0004252, receptor tyrosine kinase binding, protein binding, serine-type endopeptidase activity, GO:2000479, GO:0048012, GO:0045721, GO:0035978, GO:0033601, GO:0010758, GO:0006508, regulation of cAMP-dependent protein kinase activity, hepatocyte growth factor receptor signaling pathway, negative regulation of gluconeogenesis, histone H2A-S139 phosphorylation, positive regulation of mammary gland epithelial cell proliferation, regulation of macrophage chemotaxis, proteolysis, 13 15 8 14 19 24 24 7 7 ENSG00000173535 chr8 23102590 23117437 + TNFRSF10C protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008]. 8794 GO:0031225, GO:0009986, GO:0005886, GO:0005886, anchored component of membrane, cell surface, plasma membrane, plasma membrane, GO:0045569, GO:0005515, GO:0004888, TRAIL binding, protein binding, transmembrane signaling receptor activity, GO:0043065, GO:0042981, GO:0036462, positive regulation of apoptotic process, regulation of apoptotic process, TRAIL-activated apoptotic signaling pathway, 5892 5614 6761 1030 3122 1807 1959 3028 1932 ENSG00000173540 chr3 49716844 49723951 - GMPPB protein_coding This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]. 29925 GO:0005737, cytoplasm, GO:0005525, GO:0005515, GO:0004475, GTP binding, protein binding, mannose-1-phosphate guanylyltransferase activity, GO:0009298, GO:0009298, GDP-mannose biosynthetic process, GDP-mannose biosynthetic process, 97 102 129 138 162 145 166 124 133 ENSG00000173542 chr4 70902326 71022449 + MOB1B protein_coding The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 92597 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0046872, GO:0019900, GO:0019209, GO:0005515, metal ion binding, kinase binding, kinase activator activity, protein binding, GO:0035329, GO:0035329, GO:0033674, GO:0031952, hippo signaling, hippo signaling, positive regulation of kinase activity, regulation of protein autophosphorylation, 30 24 64 93 21 62 54 22 69 ENSG00000173545 chr5 16451519 16465792 - ZNF622 protein_coding 90441 GO:0030687, GO:0005829, GO:0005794, GO:0005730, GO:0005654, preribosome, large subunit precursor, cytosol, Golgi apparatus, nucleolus, nucleoplasm, GO:0008270, GO:0005515, GO:0003723, zinc ion binding, protein binding, RNA binding, GO:0046330, GO:0043410, GO:0043065, GO:0042273, GO:0033674, GO:0008631, positive regulation of JNK cascade, positive regulation of MAPK cascade, positive regulation of apoptotic process, ribosomal large subunit biogenesis, positive regulation of kinase activity, intrinsic apoptotic signaling pathway in response to oxidative stress, 190 138 307 163 131 183 203 106 119 ENSG00000173546 chr15 75674322 75712848 - CSPG4 protein_coding A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]. 1464 GO:0070062, GO:0062023, GO:0043202, GO:0031258, GO:0016324, GO:0009986, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005796, GO:0005654, GO:0005576, GO:0001726, extracellular exosome, collagen-containing extracellular matrix, lysosomal lumen, lamellipodium membrane, apical plasma membrane, cell surface, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, Golgi lumen, nucleoplasm, extracellular region, ruffle, GO:0019901, GO:0015026, protein kinase binding, coreceptor activity, GO:0097178, GO:0050731, GO:0048771, GO:0048008, GO:0035556, GO:0030208, GO:0030207, GO:0030206, GO:0008347, GO:0008283, GO:0006929, GO:0001525, GO:0000187, ruffle assembly, positive regulation of peptidyl-tyrosine phosphorylation, tissue remodeling, platelet-derived growth factor receptor signaling pathway, intracellular signal transduction, dermatan sulfate biosynthetic process, chondroitin sulfate catabolic process, chondroitin sulfate biosynthetic process, glial cell migration, cell population proliferation, substrate-dependent cell migration, angiogenesis, activation of MAPK activity, 0 0 0 0 0 0 2 0 0 ENSG00000173548 chr15 75647906 75662301 + SNX33 protein_coding The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 257364 GO:0031410, GO:0030659, GO:0019898, GO:0016020, GO:0005829, cytoplasmic vesicle, cytoplasmic vesicle membrane, extrinsic component of membrane, membrane, cytosol, GO:0042802, GO:0035091, GO:0005515, identical protein binding, phosphatidylinositol binding, protein binding, GO:2000010, GO:2000009, GO:0097320, GO:0051044, GO:0045806, GO:0044351, GO:0036089, GO:0017038, GO:0016197, GO:0007032, GO:0006897, GO:0006886, GO:0000281, positive regulation of protein localization to cell surface, negative regulation of protein localization to cell surface, plasma membrane tubulation, positive regulation of membrane protein ectodomain proteolysis, negative regulation of endocytosis, macropinocytosis, cleavage furrow formation, protein import, endosomal transport, endosome organization, endocytosis, intracellular protein transport, mitotic cytokinesis, 2 4 11 4 2 8 10 5 7 ENSG00000173557 chr2 26562582 26579532 + C2orf70 protein_coding 339778 GO:0005634, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000173559 chr2 191678068 191696659 + NABP1 protein_coding Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]. 64859 GO:0070876, GO:0070876, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000781, GO:0000781, SOSS complex, SOSS complex, cytosol, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, chromosome, telomeric region, GO:0005515, GO:0003723, GO:0003697, GO:0003677, protein binding, RNA binding, single-stranded DNA binding, DNA binding, GO:0042795, GO:0010212, GO:0010212, GO:0007093, GO:0007093, GO:0006974, GO:0006281, GO:0000724, GO:0000724, snRNA transcription by RNA polymerase II, response to ionizing radiation, response to ionizing radiation, mitotic cell cycle checkpoint, mitotic cell cycle checkpoint, cellular response to DNA damage stimulus, DNA repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 15318 13875 17073 15026 19994 22174 17271 13254 17380 ENSG00000173567 chr2 26308173 26346817 - ADGRF3 protein_coding 165082 GO:0016021, integral component of membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, GO:0007166, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 6 3 6 5 9 10 4 4 7 ENSG00000173572 chr19 55891699 55932336 - NLRP13 protein_coding This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. 126204 GO:0005524, ATP binding, 0 0 0 0 0 0 0 0 0 ENSG00000173575 chr15 92900189 93028005 + CHD2 protein_coding The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1106 GO:0043231, GO:0005730, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, nucleolus, nucleoplasm, nucleus, GO:0042393, GO:0005524, GO:0005515, GO:0003723, GO:0003678, GO:0003677, GO:0000978, histone binding, ATP binding, protein binding, RNA binding, DNA helicase activity, DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0032508, GO:0007517, GO:0006357, GO:0006325, DNA duplex unwinding, muscle organ development, regulation of transcription by RNA polymerase II, chromatin organization, 4611 5344 7203 3618 5143 5876 4328 4016 4777 ENSG00000173578 chr3 46017024 46027742 - XCR1 protein_coding The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2020]. 2829 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019957, GO:0016493, GO:0005515, GO:0004950, C-C chemokine binding, C-C chemokine receptor activity, protein binding, chemokine receptor activity, GO:0070098, GO:0060326, GO:0051209, GO:0019722, GO:0007204, GO:0007187, GO:0007186, GO:0006955, GO:0006954, chemokine-mediated signaling pathway, cell chemotaxis, release of sequestered calcium ion into cytosol, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, immune response, inflammatory response, 2 3 1 6 2 0 2 0 0 ENSG00000173581 chr19 55641062 55653161 + CCDC106 protein_coding 29903 GO:0005829, GO:0005654, GO:0005654, cytosol, nucleoplasm, nucleoplasm, GO:0005515, protein binding, 2 1 4 14 8 16 9 7 4 ENSG00000173585 chr3 45886504 45903177 + CCR9 protein_coding The protein encoded by this gene is a G protein-coupled receptor with seven transmembrane domains that belongs to the beta chemokine receptor family. Chemokines and their receptors are key regulators of thymocyte migration and maturation in normal and inflammation conditions. This gene is differentially expressed in T lymphocytes of the small intestine and colon, and its interaction with chemokine 25 contributes to intestinal intra-epithelial lymphocyte homing to the small intestine. This suggests a role for this gene in directing immune responses to different segments of the gastrointestinal tract. This gene and its exclusive ligand, chemokine 25, are overexpressed in a variety of malignant tumors and are closely associated with tumor proliferation, apoptosis, invasion, migration and drug resistance. This gene maps to the chemokine receptor gene cluster. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]. 10803 GO:0009986, GO:0009897, GO:0005887, GO:0005886, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019957, GO:0016493, GO:0004950, C-C chemokine binding, C-C chemokine receptor activity, chemokine receptor activity, GO:0070098, GO:0060326, GO:0019722, GO:0016032, GO:0007204, GO:0007186, GO:0006968, GO:0006955, GO:0002305, chemokine-mediated signaling pathway, cell chemotaxis, calcium-mediated signaling, viral process, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cellular defense response, immune response, CD8-positive, gamma-delta intraepithelial T cell differentiation, 7 1 3 5 0 12 5 1 0 ENSG00000173588 chr12 94306449 94459988 - CEP83 protein_coding The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]. 51134 GO:0097539, GO:0005829, GO:0005814, GO:0005794, ciliary transition fiber, cytosol, centriole, Golgi apparatus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097711, GO:0071539, GO:0060271, GO:0051660, GO:0048278, ciliary basal body-plasma membrane docking, protein localization to centrosome, cilium assembly, establishment of centrosome localization, vesicle docking, 515 429 517 254 291 359 262 213 168 ENSG00000173597 chr4 69721162 69787961 - SULT1B1 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008]. 27284 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0008146, GO:0008146, GO:0005515, GO:0004062, GO:0004062, sulfotransferase activity, sulfotransferase activity, protein binding, aryl sulfotransferase activity, aryl sulfotransferase activity, GO:0051923, GO:0051923, GO:0050427, GO:0050427, GO:0042403, GO:0030855, GO:0018958, GO:0009812, GO:0008202, GO:0006805, GO:0006576, GO:0006068, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, thyroid hormone metabolic process, epithelial cell differentiation, phenol-containing compound metabolic process, flavonoid metabolic process, steroid metabolic process, xenobiotic metabolic process, cellular biogenic amine metabolic process, ethanol catabolic process, 1659 1532 1962 433 891 791 632 904 711 ENSG00000173598 chr12 93377883 93408146 + NUDT4 protein_coding The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]. 11163 GO:0005829, GO:0005829, GO:0005737, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, GO:0052842, GO:0052840, GO:0050072, GO:0050072, GO:0046872, GO:0034432, GO:0034431, GO:0030515, GO:0008486, GO:0008486, GO:0005515, GO:0000298, inositol diphosphate pentakisphosphate diphosphatase activity, inositol diphosphate tetrakisphosphate diphosphatase activity, m7G(5')pppN diphosphatase activity, m7G(5')pppN diphosphatase activity, metal ion binding, bis(5'-adenosyl)-pentaphosphatase activity, bis(5'-adenosyl)-hexaphosphatase activity, snoRNA binding, diphosphoinositol-polyphosphate diphosphatase activity, diphosphoinositol-polyphosphate diphosphatase activity, protein binding, endopolyphosphatase activity, GO:1901911, GO:1901909, GO:1901907, GO:0071543, GO:0043647, GO:0035556, GO:0019935, GO:0019722, adenosine 5'-(hexahydrogen pentaphosphate) catabolic process, diadenosine hexaphosphate catabolic process, diadenosine pentaphosphate catabolic process, diphosphoinositol polyphosphate metabolic process, inositol phosphate metabolic process, intracellular signal transduction, cyclic-nucleotide-mediated signaling, calcium-mediated signaling, 170 241 347 172 150 184 150 118 131 ENSG00000173599 chr11 66848233 66958376 - PC protein_coding This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]. 5091 GO:0005829, GO:0005759, GO:0005739, GO:0005737, GO:0005737, cytosol, mitochondrial matrix, mitochondrion, cytoplasm, cytoplasm, GO:0046872, GO:0042802, GO:0009374, GO:0005524, GO:0005515, GO:0004736, metal ion binding, identical protein binding, biotin binding, ATP binding, protein binding, pyruvate carboxylase activity, GO:0044794, GO:0044791, GO:0019074, GO:0010629, GO:0006768, GO:0006629, GO:0006094, GO:0006094, GO:0006094, GO:0006090, positive regulation by host of viral process, positive regulation by host of viral release from host cell, viral RNA genome packaging, negative regulation of gene expression, biotin metabolic process, lipid metabolic process, gluconeogenesis, gluconeogenesis, gluconeogenesis, pyruvate metabolic process, 2 1 7 9 5 14 7 2 0 ENSG00000173610 chr4 69588417 69653249 - UGT2A1 protein_coding The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014]. 10941 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0015020, glucuronosyltransferase activity, GO:0052695, GO:0050896, GO:0008206, GO:0007608, cellular glucuronidation, response to stimulus, bile acid metabolic process, sensory perception of smell, 0 1 0 0 0 0 0 0 0 ENSG00000173611 chr9 124942608 125143506 - SCAI protein_coding This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. 286205 GO:0031965, GO:0016021, GO:0005737, GO:0005654, GO:0005654, GO:0005634, nuclear membrane, integral component of membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003714, GO:0003714, protein binding, transcription corepressor activity, transcription corepressor activity, GO:1903507, GO:0035024, GO:0030336, GO:0006351, negative regulation of nucleic acid-templated transcription, negative regulation of Rho protein signal transduction, negative regulation of cell migration, transcription, DNA-templated, 29 21 34 39 24 53 41 14 27 ENSG00000173612 chr6 116792085 116829037 - GPRC6A protein_coding Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]. 222545 GO:0009986, GO:0005887, GO:0005886, cell surface, integral component of plasma membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0043200, GO:0019722, GO:0007186, response to amino acid, calcium-mediated signaling, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000173614 chr1 9943428 9985501 + NMNAT1 protein_coding This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]. 64802 GO:0016604, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, nuclear body, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0042802, GO:0005524, GO:0005515, GO:0004515, GO:0004515, GO:0000309, GO:0000309, identical protein binding, ATP binding, protein binding, nicotinate-nucleotide adenylyltransferase activity, nicotinate-nucleotide adenylyltransferase activity, nicotinamide-nucleotide adenylyltransferase activity, nicotinamide-nucleotide adenylyltransferase activity, GO:1990966, GO:1902511, GO:0043524, GO:0043410, GO:0019674, GO:0009611, GO:0009435, GO:0009435, GO:0009165, ATP generation from poly-ADP-D-ribose, negative regulation of apoptotic DNA fragmentation, negative regulation of neuron apoptotic process, positive regulation of MAPK cascade, NAD metabolic process, response to wounding, NAD biosynthetic process, NAD biosynthetic process, nucleotide biosynthetic process, 77 105 83 48 109 56 73 69 76 ENSG00000173621 chr11 66856647 66860475 + LRFN4 protein_coding 78999 GO:0099061, GO:0098982, GO:0098978, GO:0009986, GO:0005886, integral component of postsynaptic density membrane, GABA-ergic synapse, glutamatergic synapse, cell surface, plasma membrane, GO:0005515, protein binding, GO:1905606, GO:0099560, GO:0099151, regulation of presynapse assembly, synaptic membrane adhesion, regulation of postsynaptic density assembly, 1 2 3 7 4 0 3 5 0 ENSG00000173626 chr6 116494989 116545610 - TRAPPC3L protein_coding 100128327 GO:0033106, GO:0030008, GO:0030008, GO:0005829, GO:0005783, cis-Golgi network membrane, TRAPP complex, TRAPP complex, cytosol, endoplasmic reticulum, GO:0005515, protein binding, GO:0008150, GO:0006891, GO:0006888, biological_process, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 2 0 0 0 0 0 0 0 2 ENSG00000173627 chr1 183646404 183653316 - APOBEC4 protein_coding This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008]. 403314 GO:0016814, GO:0008270, GO:0005515, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines, zinc ion binding, protein binding, GO:0006397, mRNA processing, 0 0 0 0 0 0 0 3 0 ENSG00000173638 chr21 45493572 45544411 - SLC19A1 protein_coding The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]. 6573 GO:0031526, GO:0016324, GO:0016324, GO:0016324, GO:0016323, GO:0016323, GO:0016323, GO:0005887, GO:0005886, GO:0005886, GO:0005886, brush border membrane, apical plasma membrane, apical plasma membrane, apical plasma membrane, basolateral plasma membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0140360, GO:0061507, GO:0015350, GO:0015350, GO:0015350, GO:0008518, GO:0008518, GO:0008517, GO:0008517, GO:0008514, GO:0005542, cyclic-GMP-AMP transmembrane transporter activity, cyclic-GMP-AMP binding, methotrexate transmembrane transporter activity, methotrexate transmembrane transporter activity, methotrexate transmembrane transporter activity, folate:anion antiporter activity, folate:anion antiporter activity, folic acid transmembrane transporter activity, folic acid transmembrane transporter activity, organic anion transmembrane transporter activity, folic acid binding, GO:1904447, GO:0150104, GO:0150104, GO:0140361, GO:0098838, GO:0098838, GO:0055085, GO:0051958, GO:0051958, GO:0051958, GO:0046655, GO:0015884, GO:0015711, GO:0007565, folate import across plasma membrane, transport across blood-brain barrier, transport across blood-brain barrier, cyclic-GMP-AMP transmembrane import across plasma membrane, folate transmembrane transport, folate transmembrane transport, transmembrane transport, methotrexate transport, methotrexate transport, methotrexate transport, folic acid metabolic process, folic acid transport, organic anion transport, female pregnancy, 3070 3342 2846 1514 2476 1317 1748 2281 1371 ENSG00000173641 chr1 16014028 16019594 - HSPB7 protein_coding This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]. 27129 GO:0016235, GO:0015030, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, aggresome, Cajal body, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0008022, GO:0005515, protein C-terminus binding, protein binding, GO:0008016, GO:0007507, GO:0006986, regulation of heart contraction, heart development, response to unfolded protein, 0 1 0 0 0 0 0 0 0 ENSG00000173653 chr11 66842835 66846546 + RCE1 protein_coding This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family. This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq, Jul 2008]. 9986 GO:0030176, GO:0016020, GO:0005887, GO:0005829, GO:0005789, integral component of endoplasmic reticulum membrane, membrane, integral component of plasma membrane, cytosol, endoplasmic reticulum membrane, GO:0008238, GO:0004222, GO:0004197, GO:0004175, exopeptidase activity, metalloendopeptidase activity, cysteine-type endopeptidase activity, endopeptidase activity, GO:0071586, GO:0071586, GO:0071586, GO:0018342, GO:0016579, CAAX-box protein processing, CAAX-box protein processing, CAAX-box protein processing, protein prenylation, protein deubiquitination, 89 99 84 108 105 90 95 89 69 ENSG00000173660 chr1 46303631 46316776 + UQCRH protein_coding 7388 GO:0005750, GO:0005746, GO:0005743, GO:0005739, mitochondrial respiratory chain complex III, mitochondrial respirasome, mitochondrial inner membrane, mitochondrion, GO:0008121, GO:0005515, ubiquinol-cytochrome-c reductase activity, protein binding, GO:0055114, GO:0009060, GO:0006122, GO:0006122, GO:0006119, oxidation-reduction process, aerobic respiration, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, oxidative phosphorylation, 82 71 123 96 105 187 103 119 124 ENSG00000173662 chr1 6555181 6579757 + TAS1R1 protein_coding The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 80835 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0008527, GO:0004930, taste receptor activity, G protein-coupled receptor activity, GO:0050917, GO:0050917, GO:0050912, GO:0007186, sensory perception of umami taste, sensory perception of umami taste, detection of chemical stimulus involved in sensory perception of taste, G protein-coupled receptor signaling pathway, 5 15 5 19 51 13 16 18 19 ENSG00000173673 chr1 6244192 6245578 + HES3 protein_coding 390992 GO:0005634, GO:0000785, nucleus, chromatin, GO:0071820, GO:0070888, GO:0046983, GO:0008134, GO:0001227, GO:0000981, GO:0000981, GO:0000978, N-box binding, E-box binding, protein dimerization activity, transcription factor binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060164, GO:0050767, GO:0045944, GO:0045665, GO:0030901, GO:0021575, GO:0021558, GO:0021557, GO:0021555, GO:0009952, GO:0007219, GO:0006357, GO:0001701, GO:0000122, regulation of timing of neuron differentiation, regulation of neurogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of neuron differentiation, midbrain development, hindbrain morphogenesis, trochlear nerve development, oculomotor nerve development, midbrain-hindbrain boundary morphogenesis, anterior/posterior pattern specification, Notch signaling pathway, regulation of transcription by RNA polymerase II, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000173674 chrX 20124518 20141844 - EIF1AX protein_coding This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]. 1964 GO:0005829, cytosol, GO:0008135, GO:0005515, GO:0003743, GO:0003723, translation factor activity, RNA binding, protein binding, translation initiation factor activity, RNA binding, GO:0006413, translational initiation, 297 337 385 252 180 277 219 137 187 ENSG00000173678 chr7 102650325 102661398 + SPDYE2B protein_coding 100310812 GO:0019901, protein kinase binding, 3 3 6 1 7 2 1 5 6 ENSG00000173679 chr9 122661566 122662648 + OR1L1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26737 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000173681 chrX 19912860 19970298 - BCLAF3 protein_coding 256643 GO:0016592, GO:0005739, mediator complex, mitochondrion, GO:0003712, GO:0003677, transcription coregulator activity, DNA binding, GO:0045944, positive regulation of transcription by RNA polymerase II, 347 365 410 273 479 413 394 338 384 ENSG00000173692 chr2 231056864 231172827 + PSMD1 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]. 5707 GO:0035578, GO:0034515, GO:0022624, GO:0016020, GO:0008540, GO:0005838, GO:0005829, GO:0005654, GO:0005634, GO:0005576, GO:0000502, azurophil granule lumen, proteasome storage granule, proteasome accessory complex, membrane, proteasome regulatory particle, base subcomplex, proteasome regulatory particle, cytosol, nucleoplasm, nucleus, extracellular region, proteasome complex, GO:0031625, GO:0030234, GO:0005515, GO:0004175, ubiquitin protein ligase binding, enzyme regulator activity, protein binding, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0050790, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0042176, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, regulation of catalytic activity, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 238 177 223 140 161 186 148 111 152 ENSG00000173698 chrX 18989309 19122637 - ADGRG2 protein_coding This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 10149 GO:0070062, GO:0016324, GO:0016021, GO:0009986, GO:0005887, GO:0005886, GO:0005829, extracellular exosome, apical plasma membrane, integral component of membrane, cell surface, integral component of plasma membrane, plasma membrane, cytosol, GO:0004930, G protein-coupled receptor activity, GO:0007283, GO:0007189, GO:0007186, GO:0007166, spermatogenesis, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 5 3 8 6 8 9 6 4 5 ENSG00000173699 chr2 230990324 231025055 + SPATA3 protein_coding 130560 GO:0005575, cellular_component, GO:0003674, molecular_function, 0 0 0 0 0 0 0 0 0 ENSG00000173702 chr3 124905442 124953819 - MUC13 protein_coding Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]. 56667 GO:0016324, GO:0016021, GO:0005886, GO:0005829, GO:0005796, GO:0005615, apical plasma membrane, integral component of membrane, plasma membrane, cytosol, Golgi lumen, extracellular space, GO:0042803, protein homodimerization activity, GO:0030277, GO:0016266, GO:0002223, maintenance of gastrointestinal epithelium, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000173705 chr3 33150042 33219215 - SUSD5 protein_coding 26032 GO:0016021, integral component of membrane, GO:0005540, hyaluronic acid binding, GO:0007219, GO:0007155, Notch signaling pathway, cell adhesion, 0 3 0 1 6 0 6 2 0 ENSG00000173706 chr3 124965710 125055958 - HEG1 protein_coding 57493 GO:0016021, GO:0009897, GO:0005911, GO:0005576, integral component of membrane, external side of plasma membrane, cell-cell junction, extracellular region, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:2000299, GO:1905709, GO:1902414, GO:0090271, GO:0060039, GO:0055017, GO:0050878, GO:0048845, GO:0035264, GO:0035024, GO:0030324, GO:0009791, GO:0007507, GO:0007043, GO:0003281, GO:0003222, GO:0003209, GO:0003017, GO:0001945, GO:0001886, GO:0001701, GO:0001570, negative regulation of Rho-dependent protein serine/threonine kinase activity, negative regulation of membrane permeability, protein localization to cell junction, positive regulation of fibroblast growth factor production, pericardium development, cardiac muscle tissue growth, regulation of body fluid levels, venous blood vessel morphogenesis, multicellular organism growth, negative regulation of Rho protein signal transduction, lung development, post-embryonic development, heart development, cell-cell junction assembly, ventricular septum development, ventricular trabecula myocardium morphogenesis, cardiac atrium morphogenesis, lymph circulation, lymph vessel development, endothelial cell morphogenesis, in utero embryonic development, vasculogenesis, 22 25 133 84 34 100 86 52 100 ENSG00000173714 chr17 50834650 50842348 + WFIKKN2 protein_coding The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]. 124857 GO:0005615, extracellular space, GO:0050431, GO:0050431, GO:0050431, GO:0048019, GO:0048019, GO:0008191, GO:0005515, GO:0004867, transforming growth factor beta binding, transforming growth factor beta binding, transforming growth factor beta binding, receptor antagonist activity, receptor antagonist activity, metalloendopeptidase inhibitor activity, protein binding, serine-type endopeptidase inhibitor activity, GO:2000272, GO:0060021, GO:0048747, GO:0043392, GO:0032091, GO:0030512, GO:0030512, GO:0010951, GO:0007179, GO:0001501, negative regulation of signaling receptor activity, roof of mouth development, muscle fiber development, negative regulation of DNA binding, negative regulation of protein binding, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of endopeptidase activity, transforming growth factor beta receptor signaling pathway, skeletal system development, 0 5 0 0 3 0 0 1 0 ENSG00000173715 chr11 66744451 66843328 + C11orf80 protein_coding 79703 GO:0005694, chromosome, GO:0042138, GO:0042138, GO:0007131, GO:0007131, meiotic DNA double-strand break formation, meiotic DNA double-strand break formation, reciprocal meiotic recombination, reciprocal meiotic recombination, 2 8 10 13 3 11 6 6 9 ENSG00000173726 chr1 235109336 235128936 - TOMM20 protein_coding 9804 GO:0044233, GO:0031307, GO:0005742, GO:0005742, GO:0005742, GO:0005741, GO:0005741, GO:0005739, mitochondria-associated endoplasmic reticulum membrane, integral component of mitochondrial outer membrane, mitochondrial outer membrane translocase complex, mitochondrial outer membrane translocase complex, mitochondrial outer membrane translocase complex, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, GO:0051082, GO:0030943, GO:0015450, GO:0008320, GO:0005515, unfolded protein binding, mitochondrion targeting sequence binding, P-P-bond-hydrolysis-driven protein transmembrane transporter activity, protein transmembrane transporter activity, protein binding, GO:1905242, GO:0030150, GO:0016579, GO:0016236, GO:0016031, GO:0014850, GO:0006626, response to 3,3',5-triiodo-L-thyronine, protein import into mitochondrial matrix, protein deubiquitination, macroautophagy, tRNA import into mitochondrion, response to muscle activity, protein targeting to mitochondrion, 197 196 330 245 144 331 243 166 220 ENSG00000173727 chr11 65455258 65466720 + AP000769.1 transcribed_unprocessed_pseudogene 44 53 40 13 28 23 17 29 8 ENSG00000173728 chr1 244352635 244389663 + C1orf100 protein_coding 200159 0 0 3 9 2 3 3 2 4 ENSG00000173744 chr2 227472152 227561214 + AGFG1 protein_coding The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 3267 GO:0043231, GO:0043231, GO:0043025, GO:0042995, GO:0031410, GO:0005829, GO:0005643, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, neuronal cell body, cell projection, cytoplasmic vesicle, cytosol, nuclear pore, GO:0046872, GO:0005515, GO:0005096, GO:0003723, GO:0003677, metal ion binding, protein binding, GTPase activator activity, RNA binding, DNA binding, GO:0061024, GO:0045109, GO:0043547, GO:0007289, GO:0007275, GO:0006406, GO:0001675, membrane organization, intermediate filament organization, positive regulation of GTPase activity, spermatid nucleus differentiation, multicellular organism development, mRNA export from nucleus, acrosome assembly, 856 774 852 529 823 662 606 569 538 ENSG00000173757 chr17 42199168 42276707 - STAT5B protein_coding The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]. 6777 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000785, GO:0000785, cytosol, cytoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0046983, GO:0042802, GO:0035259, GO:0005515, GO:0003700, GO:0003682, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, identical protein binding, glucocorticoid receptor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097531, GO:0071364, GO:0071363, GO:0070670, GO:0060397, GO:0060397, GO:0060397, GO:0050729, GO:0048541, GO:0046544, GO:0046543, GO:0045954, GO:0045944, GO:0045931, GO:0045648, GO:0045647, GO:0045588, GO:0045579, GO:0043434, GO:0043066, GO:0043029, GO:0042448, GO:0042127, GO:0042104, GO:0040018, GO:0040014, GO:0038113, GO:0038111, GO:0038110, GO:0035723, GO:0033077, GO:0032870, GO:0032825, GO:0032819, GO:0032743, GO:0032355, GO:0030856, GO:0019915, GO:0019530, GO:0019221, GO:0019221, GO:0019218, GO:0007595, GO:0007565, GO:0007259, GO:0006952, GO:0006357, GO:0006357, GO:0001779, GO:0001553, mast cell migration, cellular response to epidermal growth factor stimulus, cellular response to growth factor stimulus, response to interleukin-4, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway via JAK-STAT, positive regulation of inflammatory response, Peyer's patch development, development of secondary male sexual characteristics, development of secondary female sexual characteristics, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, positive regulation of erythrocyte differentiation, negative regulation of erythrocyte differentiation, positive regulation of gamma-delta T cell differentiation, positive regulation of B cell differentiation, response to peptide hormone, negative regulation of apoptotic process, T cell homeostasis, progesterone metabolic process, regulation of cell population proliferation, positive regulation of activated T cell proliferation, positive regulation of multicellular organism growth, regulation of multicellular organism growth, interleukin-9-mediated signaling pathway, interleukin-7-mediated signaling pathway, interleukin-2-mediated signaling pathway, interleukin-15-mediated signaling pathway, T cell differentiation in thymus, cellular response to hormone stimulus, positive regulation of natural killer cell differentiation, positive regulation of natural killer cell proliferation, positive regulation of interleukin-2 production, response to estradiol, regulation of epithelial cell differentiation, lipid storage, taurine metabolic process, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, regulation of steroid metabolic process, lactation, female pregnancy, receptor signaling pathway via JAK-STAT, defense response, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, natural killer cell differentiation, luteinization, 6622 6650 7492 5046 6424 6687 6101 4939 5761 ENSG00000173762 chr17 82314868 82317602 - CD7 protein_coding This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq, Jul 2008]. 924 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0042110, GO:0007169, GO:0006955, GO:0002250, T cell activation, transmembrane receptor protein tyrosine kinase signaling pathway, immune response, adaptive immune response, 167 185 275 419 439 736 513 302 590 ENSG00000173769 chr3 44241886 44332098 + TOPAZ1 protein_coding 375337 GO:0005829, cytosol, GO:1901995, GO:0098781, GO:0048137, GO:0007286, GO:0006915, positive regulation of meiotic cell cycle phase transition, ncRNA transcription, spermatocyte division, spermatid development, apoptotic process, 0 0 0 1 0 0 0 0 0 ENSG00000173786 chr17 41966741 41977731 + CNP protein_coding 1267 GO:0070062, GO:0048471, GO:0045202, GO:0042470, GO:0035749, GO:0035748, GO:0031143, GO:0016020, GO:0005902, GO:0005886, GO:0005829, GO:0005743, GO:0005741, GO:0005737, GO:0005737, GO:0005654, GO:0005615, extracellular exosome, perinuclear region of cytoplasm, synapse, melanosome, myelin sheath adaxonal region, myelin sheath abaxonal region, pseudopodium, membrane, microvillus, plasma membrane, cytosol, mitochondrial inner membrane, mitochondrial outer membrane, cytoplasm, cytoplasm, nucleoplasm, extracellular space, GO:0030551, GO:0005515, GO:0004113, GO:0003723, cyclic nucleotide binding, protein binding, 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity, RNA binding, GO:0048709, GO:0046902, GO:0032496, GO:0030900, GO:0021762, GO:0009636, GO:0009214, GO:0008344, GO:0007568, GO:0007409, GO:0007268, GO:0000226, oligodendrocyte differentiation, regulation of mitochondrial membrane permeability, response to lipopolysaccharide, forebrain development, substantia nigra development, response to toxic substance, cyclic nucleotide catabolic process, adult locomotory behavior, aging, axonogenesis, chemical synaptic transmission, microtubule cytoskeleton organization, 151 158 196 183 253 144 196 186 134 ENSG00000173801 chr17 41754604 41786931 - JUP protein_coding This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]. 3728 GO:1904813, GO:0071665, GO:0070062, GO:0035580, GO:0032993, GO:0030057, GO:0030056, GO:0030018, GO:0016342, GO:0016342, GO:0016328, GO:0016327, GO:0015629, GO:0014704, GO:0009898, GO:0005925, GO:0005916, GO:0005915, GO:0005912, GO:0005912, GO:0005911, GO:0005886, GO:0005886, GO:0005882, GO:0005856, GO:0005829, GO:0005737, GO:0005634, GO:0005576, GO:0001533, ficolin-1-rich granule lumen, gamma-catenin-TCF7L2 complex, extracellular exosome, specific granule lumen, protein-DNA complex, desmosome, hemidesmosome, Z disc, catenin complex, catenin complex, lateral plasma membrane, apicolateral plasma membrane, actin cytoskeleton, intercalated disc, cytoplasmic side of plasma membrane, focal adhesion, fascia adherens, zonula adherens, adherens junction, adherens junction, cell-cell junction, plasma membrane, plasma membrane, intermediate filament, cytoskeleton, cytosol, cytoplasm, nucleus, extracellular region, cornified envelope, GO:0106006, GO:0086083, GO:0050839, GO:0045296, GO:0045296, GO:0045296, GO:0045294, GO:0045294, GO:0044877, GO:0042803, GO:0035257, GO:0019903, GO:0019903, GO:0019901, GO:0005515, GO:0005198, GO:0003713, GO:0003713, cytoskeletal protein-membrane anchor activity, cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication, cell adhesion molecule binding, cadherin binding, cadherin binding, cadherin binding, alpha-catenin binding, alpha-catenin binding, protein-containing complex binding, protein homodimerization activity, nuclear hormone receptor binding, protein phosphatase binding, protein phosphatase binding, protein kinase binding, protein binding, structural molecule activity, transcription coactivator activity, transcription coactivator activity, GO:0098911, GO:0098609, GO:0098609, GO:0090263, GO:0086091, GO:0086073, GO:0072659, GO:0071681, GO:0071603, GO:0070268, GO:0051091, GO:0050982, GO:0045944, GO:0045766, GO:0043537, GO:0043312, GO:0042307, GO:0042127, GO:0034332, GO:0031424, GO:0016477, GO:0002159, GO:0002159, GO:0001954, regulation of ventricular cardiac muscle cell action potential, cell-cell adhesion, cell-cell adhesion, positive regulation of canonical Wnt signaling pathway, regulation of heart rate by cardiac conduction, bundle of His cell-Purkinje myocyte adhesion involved in cell communication, protein localization to plasma membrane, cellular response to indole-3-methanol, endothelial cell-cell adhesion, cornification, positive regulation of DNA-binding transcription factor activity, detection of mechanical stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, negative regulation of blood vessel endothelial cell migration, neutrophil degranulation, positive regulation of protein import into nucleus, regulation of cell population proliferation, adherens junction organization, keratinization, cell migration, desmosome assembly, desmosome assembly, positive regulation of cell-matrix adhesion, 9 23 37 3 16 1 7 14 3 ENSG00000173805 chr17 41717742 41734644 - HAP1 protein_coding Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 9001 GO:1904115, GO:0043197, GO:0031410, GO:0030426, GO:0030425, GO:0016234, GO:0015629, GO:0008021, GO:0005856, GO:0005829, GO:0005814, GO:0005813, GO:0005783, GO:0005776, GO:0005769, GO:0005764, GO:0005739, GO:0005730, axon cytoplasm, dendritic spine, cytoplasmic vesicle, growth cone, dendrite, inclusion body, actin cytoskeleton, synaptic vesicle, cytoskeleton, cytosol, centriole, centrosome, endoplasmic reticulum, autophagosome, early endosome, lysosome, mitochondrion, nucleolus, GO:0048403, GO:0044325, GO:0017022, GO:0005515, GO:0005102, brain-derived neurotrophic factor binding, ion channel binding, myosin binding, protein binding, signaling receptor binding, GO:1902857, GO:1902513, GO:1902430, GO:0098957, GO:0050769, GO:0048311, GO:0048011, GO:0048011, GO:0047496, GO:0045742, GO:0032901, GO:0032230, GO:0031587, GO:0030030, GO:0022008, GO:0021979, GO:0021549, GO:0017157, GO:0008104, GO:0008090, GO:0008089, GO:0007420, GO:0007268, GO:0006914, GO:0006887, GO:0006605, positive regulation of non-motile cilium assembly, regulation of organelle transport along microtubule, negative regulation of amyloid-beta formation, anterograde axonal transport of mitochondrion, positive regulation of neurogenesis, mitochondrion distribution, neurotrophin TRK receptor signaling pathway, neurotrophin TRK receptor signaling pathway, vesicle transport along microtubule, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of neurotrophin production, positive regulation of synaptic transmission, GABAergic, positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, cell projection organization, neurogenesis, hypothalamus cell differentiation, cerebellum development, regulation of exocytosis, protein localization, retrograde axonal transport, anterograde axonal transport, brain development, chemical synaptic transmission, autophagy, exocytosis, protein targeting, 0 0 0 0 0 4 0 0 0 ENSG00000173809 chr19 32719753 32829580 + TDRD12 protein_coding 91646 GO:1990923, GO:0005575, PET complex, cellular_component, GO:0005524, GO:0003724, GO:0003676, GO:0003674, ATP binding, RNA helicase activity, nucleic acid binding, molecular_function, GO:0043046, GO:0034587, GO:0031047, GO:0030154, GO:0009566, GO:0007283, GO:0007275, GO:0007140, DNA methylation involved in gamete generation, piRNA metabolic process, gene silencing by RNA, cell differentiation, fertilization, spermatogenesis, multicellular organism development, male meiotic nuclear division, 0 0 2 0 3 0 0 0 0 ENSG00000173810 chr1 101270875 101271363 - PPIAP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000173811 chr3 42732575 42746768 + CCDC13-AS1 antisense 100874114 17 12 10 14 11 16 12 17 5 ENSG00000173812 chr17 41688885 41692668 + EIF1 protein_coding 10209 GO:0016282, GO:0005737, GO:0005634, eukaryotic 43S preinitiation complex, cytoplasm, nucleus, GO:0043024, GO:0008135, GO:0005515, GO:0003743, GO:0003743, GO:0003723, GO:0003723, ribosomal small subunit binding, translation factor activity, RNA binding, protein binding, translation initiation factor activity, translation initiation factor activity, RNA binding, RNA binding, GO:0009048, GO:0006446, GO:0006413, dosage compensation by inactivation of X chromosome, regulation of translational initiation, translational initiation, 10281 11824 13699 40435 60454 51050 30858 36438 36965 ENSG00000173818 chr17 80415165 80438086 + ENDOV protein_coding 284131 GO:0010494, GO:0005737, GO:0005737, GO:0005730, GO:0005730, cytoplasmic stress granule, cytoplasm, cytoplasm, nucleolus, nucleolus, GO:0016891, GO:0016891, GO:0016888, GO:0016888, GO:0005515, GO:0003727, GO:0003727, GO:0003677, GO:0000287, GO:0000287, endoribonuclease activity, producing 5'-phosphomonoesters, endoribonuclease activity, producing 5'-phosphomonoesters, endodeoxyribonuclease activity, producing 5'-phosphomonoesters, endodeoxyribonuclease activity, producing 5'-phosphomonoesters, protein binding, single-stranded RNA binding, single-stranded RNA binding, DNA binding, magnesium ion binding, magnesium ion binding, GO:0090502, GO:0006281, RNA phosphodiester bond hydrolysis, endonucleolytic, DNA repair, 64 74 80 48 65 58 57 60 51 ENSG00000173821 chr17 80260866 80398786 + RNF213 protein_coding This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]. 57674 GO:0016020, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005730, membrane, cytosol, cytosol, cytosol, cytoplasm, nucleolus, nucleolus, GO:0046872, GO:0016887, GO:0004842, GO:0004842, GO:0004842, metal ion binding, ATPase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2000051, GO:2000051, GO:0051865, GO:0051260, GO:0016567, GO:0006511, GO:0006511, GO:0002040, GO:0002040, GO:0001525, GO:0000209, negative regulation of non-canonical Wnt signaling pathway, negative regulation of non-canonical Wnt signaling pathway, protein autoubiquitination, protein homooligomerization, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, sprouting angiogenesis, sprouting angiogenesis, angiogenesis, protein polyubiquitination, 7202 7026 10380 6048 7020 8593 6959 4705 7272 ENSG00000173825 chr11 65354767 65357613 + TIGD3 protein_coding The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]. 220359 GO:0005634, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, 188 157 251 122 217 134 132 152 171 ENSG00000173826 chr17 63523334 63548977 + KCNH6 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]. 81033 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005249, voltage-gated potassium channel activity, GO:0086091, GO:0071805, GO:0042391, GO:0034765, regulation of heart rate by cardiac conduction, potassium ion transmembrane transport, regulation of membrane potential, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000173838 chr17 62701314 62808344 - MARCH10 protein_coding MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]. 162333 GO:0016740, GO:0008270, GO:0005515, transferase activity, zinc ion binding, protein binding, GO:0016567, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000173846 chr1 44800225 44805990 + PLK3 protein_coding The protein encoded by this gene is a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal kinase domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cellular localization signal. Polo-like kinases are important regulators of cell cycle progression. This gene has also been implicated in stress responses and double-strand break repair. In human cell lines, this protein is reported to associate with centrosomes in a microtubule-dependent manner, and during mitosis, the protein becomes localized to the mitotic apparatus. Expression of a kinase-defective mutant results in abnormal cell morphology caused by changes in microtubule dynamics and mitotic arrest followed by apoptosis. [provided by RefSeq, Sep 2015]. 1263 GO:0043025, GO:0030425, GO:0005813, GO:0005813, GO:0005795, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000922, neuronal cell body, dendrite, centrosome, centrosome, Golgi stack, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, spindle pole, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0002039, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, p53 binding, GO:2000777, GO:1904716, GO:1901796, GO:0090316, GO:0090166, GO:0090166, GO:0051302, GO:0044819, GO:0044819, GO:0043491, GO:0043066, GO:0032465, GO:0032465, GO:0032465, GO:0031122, GO:0009314, GO:0007113, GO:0007093, GO:0006977, GO:0006974, GO:0006974, GO:0006974, GO:0006970, GO:0006915, GO:0006468, GO:0000302, GO:0000278, GO:0000122, GO:0000086, GO:0000082, positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia, positive regulation of chaperone-mediated autophagy, regulation of signal transduction by p53 class mediator, positive regulation of intracellular protein transport, Golgi disassembly, Golgi disassembly, regulation of cell division, mitotic G1/S transition checkpoint, mitotic G1/S transition checkpoint, protein kinase B signaling, negative regulation of apoptotic process, regulation of cytokinesis, regulation of cytokinesis, regulation of cytokinesis, cytoplasmic microtubule organization, response to radiation, endomitotic cell cycle, mitotic cell cycle checkpoint, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, response to osmotic stress, apoptotic process, protein phosphorylation, response to reactive oxygen species, mitotic cell cycle, negative regulation of transcription by RNA polymerase II, G2/M transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 2047 2588 2971 2252 3498 4215 2516 3240 3792 ENSG00000173848 chr10 5412551 5458463 + NET1 protein_coding This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 10276 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0071479, GO:0070301, GO:0051056, GO:0043547, GO:0043065, GO:0043065, GO:0035556, GO:0035025, GO:0007186, GO:0007165, GO:0001558, cellular response to ionizing radiation, cellular response to hydrogen peroxide, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, positive regulation of apoptotic process, positive regulation of apoptotic process, intracellular signal transduction, positive regulation of Rho protein signal transduction, G protein-coupled receptor signaling pathway, signal transduction, regulation of cell growth, 9 15 20 24 7 7 15 14 9 ENSG00000173852 chr7 34928876 35038271 - DPY19L1 protein_coding 23333 GO:0016021, GO:0016020, GO:0005637, integral component of membrane, membrane, nuclear inner membrane, GO:0000030, mannosyltransferase activity, GO:0018406, protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan, 53 25 72 63 25 37 46 11 50 ENSG00000173862 chr7 33725981 33728456 + AC008080.1 lincRNA 0 1 0 0 0 0 3 0 0 ENSG00000173867 chr15 88459501 88546585 - AC013489.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000173868 chr17 49223362 49230766 - PHOSPHO1 protein_coding 162466 GO:0065010, GO:0031012, GO:0005829, extracellular membrane-bounded organelle, extracellular matrix, cytosol, GO:0052732, GO:0052731, GO:0046872, GO:0016791, GO:0016462, GO:0005515, phosphoethanolamine phosphatase activity, phosphocholine phosphatase activity, metal ion binding, phosphatase activity, pyrophosphatase activity, protein binding, GO:0035630, GO:0030500, GO:0016311, GO:0006656, GO:0006646, GO:0001958, bone mineralization involved in bone maturation, regulation of bone mineralization, dephosphorylation, phosphatidylcholine biosynthetic process, phosphatidylethanolamine biosynthetic process, endochondral ossification, 4448 5572 4923 3382 6328 4083 3790 4942 3385 ENSG00000173875 chr19 12610918 12633840 + ZNF791 protein_coding 163049 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 576 565 504 414 491 512 541 422 415 ENSG00000173889 chr3 170086732 170181749 - PHC3 protein_coding 80012 GO:0035102, GO:0035102, GO:0031519, GO:0005654, GO:0005654, GO:0005634, GO:0005634, PRC1 complex, PRC1 complex, PcG protein complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0008270, GO:0005515, GO:0003682, GO:0003677, histone binding, zinc ion binding, protein binding, chromatin binding, DNA binding, GO:0070317, GO:0045892, GO:0007275, negative regulation of G0 to G1 transition, negative regulation of transcription, DNA-templated, multicellular organism development, 655 755 933 628 700 860 752 466 677 ENSG00000173890 chr3 170037929 170085403 + GPR160 protein_coding 26996 GO:0043235, GO:0043235, GO:0016021, GO:0005886, GO:0005886, receptor complex, receptor complex, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 393 322 624 131 279 297 181 244 208 ENSG00000173894 chr17 79778132 79787983 + CBX2 protein_coding This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]. 84733 GO:0035102, GO:0035102, GO:0031519, GO:0005654, GO:0005654, GO:0005634, GO:0000792, GO:0000791, PRC1 complex, PRC1 complex, PcG protein complex, nucleoplasm, nucleoplasm, nucleus, heterochromatin, euchromatin, GO:0035064, GO:0005515, GO:0003682, GO:0003677, methylated histone binding, protein binding, chromatin binding, DNA binding, GO:0045137, GO:0030154, GO:0006325, GO:0000122, GO:0000122, development of primary sexual characteristics, cell differentiation, chromatin organization, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000173898 chr11 66685248 66729226 - SPTBN2 protein_coding Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]. 6712 GO:0098978, GO:0098793, GO:0043025, GO:0030054, GO:0016324, GO:0008091, GO:0005829, GO:0005829, GO:0005615, glutamatergic synapse, presynapse, neuronal cell body, cell junction, apical plasma membrane, spectrin, cytosol, cytosol, extracellular space, GO:0098918, GO:0045296, GO:0005543, GO:0005200, GO:0003779, structural constituent of synapse, cadherin binding, phospholipid binding, structural constituent of cytoskeleton, actin binding, GO:0051693, GO:0035264, GO:0030534, GO:0021692, GO:0019886, GO:0016192, GO:0007416, GO:0007411, GO:0007010, GO:0006888, GO:0000165, actin filament capping, multicellular organism growth, adult behavior, cerebellar Purkinje cell layer morphogenesis, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, synapse assembly, axon guidance, cytoskeleton organization, endoplasmic reticulum to Golgi vesicle-mediated transport, MAPK cascade, 2 1 2 0 4 0 4 0 0 ENSG00000173905 chr3 168008677 168095975 - GOLIM4 protein_coding The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]. 27333 GO:0032580, GO:0030139, GO:0030133, GO:0016021, GO:0016020, GO:0010008, GO:0005801, GO:0005796, GO:0005794, GO:0000139, Golgi cisterna membrane, endocytic vesicle, transport vesicle, integral component of membrane, membrane, endosome membrane, cis-Golgi network, Golgi lumen, Golgi apparatus, Golgi membrane, 27 25 43 14 2 4 18 3 5 ENSG00000173908 chr17 40792203 40799959 - KRT28 protein_coding This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]. 162605 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0005515, GO:0005198, GO:0003674, protein binding, structural molecule activity, molecular_function, GO:0070268, GO:0031424, GO:0008150, cornification, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000173914 chr11 66664998 66677921 - RBM4B protein_coding 83759 GO:0032991, GO:0016607, GO:0005829, GO:0005730, GO:0005654, protein-containing complex, nuclear speck, cytosol, nucleolus, nucleoplasm, GO:0008270, GO:0005515, GO:0003729, GO:0003723, GO:0003723, zinc ion binding, protein binding, mRNA binding, RNA binding, RNA binding, GO:0045292, GO:0043153, GO:0032922, GO:0010628, GO:0007623, GO:0006417, GO:0000381, mRNA cis splicing, via spliceosome, entrainment of circadian clock by photoperiod, circadian regulation of gene expression, positive regulation of gene expression, circadian rhythm, regulation of translation, regulation of alternative mRNA splicing, via spliceosome, 96 114 123 106 125 117 111 77 75 ENSG00000173915 chr10 103389041 103396492 - ATP5MD protein_coding 84833 GO:0016021, GO:0005753, GO:0005753, GO:0005753, GO:0005739, GO:0005739, integral component of membrane, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrion, mitochondrion, 142 80 96 73 117 85 59 120 81 ENSG00000173917 chr17 48540894 48544989 - HOXB2 protein_coding This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]. 3212 GO:0016607, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, nuclear speck, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048857, GO:0048704, GO:0045944, GO:0021612, GO:0021570, GO:0021569, GO:0009953, GO:0009952, GO:0008015, GO:0007275, GO:0006357, GO:0002011, neural nucleus development, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, facial nerve structural organization, rhombomere 4 development, rhombomere 3 development, dorsal/ventral pattern formation, anterior/posterior pattern specification, blood circulation, multicellular organism development, regulation of transcription by RNA polymerase II, morphogenesis of an epithelial sheet, 9 4 18 12 8 20 8 9 30 ENSG00000173918 chr17 79022814 79049788 + C1QTNF1 protein_coding 114897 GO:0005887, GO:0005615, GO:0005581, integral component of plasma membrane, extracellular space, collagen trimer, GO:0042802, GO:0005518, GO:0005515, identical protein binding, collagen binding, protein binding, GO:2000860, GO:0090331, GO:0051897, GO:0043410, GO:0010906, GO:0010628, GO:0010544, GO:0007204, positive regulation of aldosterone secretion, negative regulation of platelet aggregation, positive regulation of protein kinase B signaling, positive regulation of MAPK cascade, regulation of glucose metabolic process, positive regulation of gene expression, negative regulation of platelet activation, positive regulation of cytosolic calcium ion concentration, 0 0 0 0 0 0 0 0 6 ENSG00000173926 chr5 126867714 127030808 - MARCH3 protein_coding This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]. 115123 GO:0043231, GO:0031901, GO:0030659, GO:0016021, GO:0005768, GO:0005764, intracellular membrane-bounded organelle, early endosome membrane, cytoplasmic vesicle membrane, integral component of membrane, endosome, lysosome, GO:0008270, GO:0005515, GO:0004842, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:0016567, GO:0016567, GO:0006897, protein ubiquitination, protein ubiquitination, endocytosis, 28 7 25 17 11 32 22 20 4 ENSG00000173928 chr19 11374685 11376951 + SWSAP1 protein_coding 126074 GO:0097196, GO:0097196, GO:0005634, Shu complex, Shu complex, nucleus, GO:0016887, GO:0016887, GO:0005515, GO:0003697, GO:0003697, ATPase activity, ATPase activity, protein binding, single-stranded DNA binding, single-stranded DNA binding, GO:0050821, GO:0000724, GO:0000724, protein stabilization, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 47 53 45 9 43 30 29 26 18 ENSG00000173930 chr5 102233986 102296549 - SLCO4C1 protein_coding SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]. 353189 GO:0070062, GO:0035579, GO:0035577, GO:0016323, GO:0005887, GO:0005886, extracellular exosome, specific granule membrane, azurophil granule membrane, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, GO:0015347, GO:0015347, sodium-independent organic anion transmembrane transporter activity, sodium-independent organic anion transmembrane transporter activity, GO:0055085, GO:0043312, GO:0043252, GO:0043252, GO:0030154, GO:0007283, GO:0007275, transmembrane transport, neutrophil degranulation, sodium-independent organic anion transport, sodium-independent organic anion transport, cell differentiation, spermatogenesis, multicellular organism development, 212 269 451 89 274 163 146 206 152 ENSG00000173933 chr11 66638617 66668374 + RBM4 protein_coding 5936 GO:0016607, GO:0016607, GO:0010494, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, nuclear speck, nuclear speck, cytoplasmic stress granule, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0097158, GO:0097157, GO:0035198, GO:0030332, GO:0008270, GO:0005515, GO:0003730, GO:0003729, GO:0003729, GO:0003723, GO:0003723, GO:0003723, pre-mRNA intronic pyrimidine-rich binding, pre-mRNA intronic binding, miRNA binding, cyclin binding, zinc ion binding, protein binding, mRNA 3'-UTR binding, mRNA binding, mRNA binding, RNA binding, RNA binding, RNA binding, GO:0097167, GO:0051149, GO:0046822, GO:0046685, GO:0045947, GO:0045292, GO:0043153, GO:0035278, GO:0032055, GO:0030154, GO:0017148, GO:0006396, GO:0002192, GO:0002190, GO:0000381, GO:0000381, circadian regulation of translation, positive regulation of muscle cell differentiation, regulation of nucleocytoplasmic transport, response to arsenic-containing substance, negative regulation of translational initiation, mRNA cis splicing, via spliceosome, entrainment of circadian clock by photoperiod, miRNA mediated inhibition of translation, negative regulation of translation in response to stress, cell differentiation, negative regulation of translation, RNA processing, IRES-dependent translational initiation of linear mRNA, cap-independent translational initiation, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 207 221 271 246 249 309 227 168 202 ENSG00000173947 chr1 111346288 111353013 + PIFO protein_coding 128344 GO:0036064, GO:0036064, GO:0031410, GO:0005802, GO:0005634, ciliary basal body, ciliary basal body, cytoplasmic vesicle, trans-Golgi network, nucleus, GO:0048487, GO:0043015, GO:0031267, GO:0019901, GO:0019894, GO:0008092, GO:0005515, beta-tubulin binding, gamma-tubulin binding, small GTPase binding, protein kinase binding, kinesin binding, cytoskeletal protein binding, protein binding, GO:0060971, GO:0044782, GO:0033674, GO:0031344, GO:0031344, embryonic heart tube left/right pattern formation, cilium organization, positive regulation of kinase activity, regulation of cell projection organization, regulation of cell projection organization, 1 0 0 0 0 0 0 0 0 ENSG00000173950 chr3 195068279 195271167 - XXYLT1 protein_coding 152002 GO:0030176, integral component of endoplasmic reticulum membrane, GO:0035252, GO:0030145, GO:0000287, UDP-xylosyltransferase activity, manganese ion binding, magnesium ion binding, GO:0016266, O-glycan processing, 14 10 14 14 23 21 11 12 23 ENSG00000173954 chrX 139362040 139362382 + SNURFL processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000173960 chr2 23927285 24004909 + UBXN2A protein_coding 165324 GO:0005829, GO:0005801, GO:0005783, GO:0005634, cytosol, cis-Golgi network, endoplasmic reticulum, nucleus, GO:0043130, GO:0033130, GO:0005515, ubiquitin binding, acetylcholine receptor binding, protein binding, GO:1990830, GO:0061025, GO:0043161, GO:0042176, GO:0031468, GO:0031396, GO:0010468, GO:0007030, GO:0000045, cellular response to leukemia inhibitory factor, membrane fusion, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of protein catabolic process, nuclear envelope reassembly, regulation of protein ubiquitination, regulation of gene expression, Golgi organization, autophagosome assembly, 28 20 35 29 29 33 40 12 35 ENSG00000173966 chr4 53575713 53576387 + AC095040.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000173976 chr19 3769089 3772221 - RAX2 protein_coding This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 84839 GO:0000785, chromatin, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050896, GO:0045944, GO:0007601, GO:0006357, response to stimulus, positive regulation of transcription by RNA polymerase II, visual perception, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 1 ENSG00000173988 chr13 46211943 46277366 + LRRC63 protein_coding 220416 1 0 2 8 0 0 6 0 0 ENSG00000173991 chr17 39664187 39666555 + TCAP protein_coding Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]. 8557 GO:0031674, GO:0030018, GO:0030018, GO:0005829, I band, Z disc, Z disc, cytosol, GO:0070080, GO:0070080, GO:0051373, GO:0044325, GO:0036122, GO:0031432, GO:0031432, GO:0030674, GO:0030674, GO:0008307, GO:0008307, GO:0005515, titin Z domain binding, titin Z domain binding, FATZ binding, ion channel binding, BMP binding, titin binding, titin binding, protein-macromolecule adaptor activity, protein-macromolecule adaptor activity, structural constituent of muscle, structural constituent of muscle, protein binding, GO:0065003, GO:0060048, GO:0060048, GO:0055008, GO:0055008, GO:0055003, GO:0055003, GO:0050982, GO:0048769, GO:0048769, GO:0048739, GO:0048739, GO:0045214, GO:0045214, GO:0035995, GO:0035995, GO:0035994, GO:0030916, GO:0030241, GO:0030241, GO:0030240, GO:0030240, GO:0030049, GO:0014898, GO:0007512, GO:0003300, GO:0003009, GO:0003009, GO:0001756, protein-containing complex assembly, cardiac muscle contraction, cardiac muscle contraction, cardiac muscle tissue morphogenesis, cardiac muscle tissue morphogenesis, cardiac myofibril assembly, cardiac myofibril assembly, detection of mechanical stimulus, sarcomerogenesis, sarcomerogenesis, cardiac muscle fiber development, cardiac muscle fiber development, sarcomere organization, sarcomere organization, detection of muscle stretch, detection of muscle stretch, response to muscle stretch, otic vesicle formation, skeletal muscle myosin thick filament assembly, skeletal muscle myosin thick filament assembly, skeletal muscle thin filament assembly, skeletal muscle thin filament assembly, muscle filament sliding, cardiac muscle hypertrophy in response to stress, adult heart development, cardiac muscle hypertrophy, skeletal muscle contraction, skeletal muscle contraction, somitogenesis, 36 25 23 89 71 44 53 32 38 ENSG00000173992 chr11 66592821 66606019 + CCS protein_coding Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]. 9973 GO:0005829, GO:0005737, GO:0005634, GO:0005615, cytosol, cytoplasm, nucleus, extracellular space, GO:0045296, GO:0015035, GO:0005515, GO:0005507, GO:0005507, GO:0004784, cadherin binding, protein disulfide oxidoreductase activity, protein binding, copper ion binding, copper ion binding, superoxide dismutase activity, GO:0055114, GO:0051353, GO:0034599, GO:0030001, GO:0019430, GO:0015680, GO:0006801, oxidation-reduction process, positive regulation of oxidoreductase activity, cellular response to oxidative stress, metal ion transport, removal of superoxide radicals, protein maturation by copper ion transfer, superoxide metabolic process, 93 120 118 112 119 95 96 115 102 ENSG00000174004 chr3 196639686 196662004 + NRROS protein_coding 375387 GO:0016021, GO:0009986, GO:0005886, GO:0005789, GO:0005783, GO:0005576, integral component of membrane, cell surface, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, extracellular region, GO:0050431, transforming growth factor beta binding, GO:0045087, GO:0036364, GO:0035583, GO:0014005, GO:0007179, GO:0006955, GO:0006955, GO:0006954, GO:0006801, GO:0006801, innate immune response, transforming growth factor beta1 activation, sequestering of TGFbeta in extracellular matrix, microglia development, transforming growth factor beta receptor signaling pathway, immune response, immune response, inflammatory response, superoxide metabolic process, superoxide metabolic process, 55 108 102 39 41 77 37 40 41 ENSG00000174007 chr3 196706277 196712293 - CEP19 protein_coding The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]. 84984 GO:0036064, GO:0036064, GO:0005929, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0000922, GO:0000922, ciliary basal body, ciliary basal body, cilium, centriole, centriole, centrosome, centrosome, cytoplasm, spindle pole, spindle pole, GO:0005515, protein binding, GO:0097712, GO:0097712, GO:0060271, GO:0034454, GO:0034454, vesicle targeting, trans-Golgi to periciliary membrane compartment, vesicle targeting, trans-Golgi to periciliary membrane compartment, cilium assembly, microtubule anchoring at centrosome, microtubule anchoring at centrosome, 1346 1017 1260 124 383 206 236 453 227 ENSG00000174010 chrX 23983720 24027186 - KLHL15 protein_coding This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]. 80311 GO:0031463, GO:0005634, Cul3-RING ubiquitin ligase complex, nucleus, GO:0005515, protein binding, GO:2000042, GO:0071630, GO:0016567, GO:0006511, negative regulation of double-strand break repair via homologous recombination, nuclear protein quality control by the ubiquitin-proteasome system, protein ubiquitination, ubiquitin-dependent protein catabolic process, 537 828 575 530 833 1277 752 749 1044 ENSG00000174013 chr3 196568611 196589059 + FBXO45 protein_coding Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]. 200933 GO:0098978, GO:0045211, GO:0045202, GO:0042995, GO:0042734, GO:0019005, GO:0014069, glutamatergic synapse, postsynaptic membrane, synapse, cell projection, presynaptic membrane, SCF ubiquitin ligase complex, postsynaptic density, GO:0005515, protein binding, GO:0060386, GO:0043161, GO:0043161, GO:0021960, GO:0021957, GO:0021800, GO:0021799, GO:0016567, GO:0016567, GO:0016567, GO:0006974, GO:0006511, GO:0001764, synapse assembly involved in innervation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, anterior commissure morphogenesis, corticospinal tract morphogenesis, cerebral cortex tangential migration, cerebral cortex radially oriented cell migration, protein ubiquitination, protein ubiquitination, protein ubiquitination, cellular response to DNA damage stimulus, ubiquitin-dependent protein catabolic process, neuron migration, 53 35 49 21 33 51 21 15 33 ENSG00000174015 chr13 45702311 45714559 + SPERT protein_coding 220082 GO:0031410, cytoplasmic vesicle, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000174016 chrX 80335504 80445311 + TENT5D protein_coding Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009]. 169966 GO:1990817, GO:1990817, GO:0005515, RNA adenylyltransferase activity, RNA adenylyltransferase activity, protein binding, GO:0048255, mRNA stabilization, 0 0 0 0 0 0 0 0 0 ENSG00000174021 chr1 84498325 84506565 - GNG5 protein_coding G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]. 2787 GO:0070062, GO:0031680, GO:0016020, GO:0005886, GO:0005834, GO:0005834, extracellular exosome, G-protein beta/gamma-subunit complex, membrane, plasma membrane, heterotrimeric G-protein complex, heterotrimeric G-protein complex, GO:0031681, GO:0030165, GO:0005515, GO:0003924, G-protein beta-subunit binding, PDZ domain binding, protein binding, GTPase activity, GO:2000179, GO:0072513, GO:0007186, GO:0007186, GO:0007165, positive regulation of neural precursor cell proliferation, positive regulation of secondary heart field cardioblast proliferation, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, 66 76 132 50 86 111 49 54 81 ENSG00000174028 chrX 23075758 23076767 + FAM3C2 processed_pseudogene 2 2 10 9 3 30 5 3 1 ENSG00000174032 chr13 45393316 45418455 - SLC25A30 protein_coding Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]. 253512 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0015297, GO:0015141, GO:0015140, GO:0015131, GO:0015117, GO:0015116, GO:0005515, GO:0003674, antiporter activity, succinate transmembrane transporter activity, malate transmembrane transporter activity, oxaloacetate transmembrane transporter activity, thiosulfate transmembrane transporter activity, sulfate transmembrane transporter activity, protein binding, molecular_function, GO:1902358, GO:1902356, GO:0071423, GO:0071422, GO:0035435, GO:0015729, GO:0015709, GO:0008272, GO:0008150, GO:0006839, sulfate transmembrane transport, oxaloacetate(2-) transmembrane transport, malate transmembrane transport, succinate transmembrane transport, phosphate ion transmembrane transport, oxaloacetate transport, thiosulfate transport, sulfate transport, biological_process, mitochondrial transport, 41 29 68 66 52 109 55 24 34 ENSG00000174038 chr9 35041095 35045991 + C9orf131 protein_coding 138724 14 27 24 27 51 52 41 34 39 ENSG00000174059 chr1 207880972 207911402 - CD34 protein_coding The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 947 GO:0048471, GO:0045171, GO:0036053, GO:0016324, GO:0009925, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005764, GO:0005737, perinuclear region of cytoplasm, intercellular bridge, glomerular endothelium fenestra, apical plasma membrane, basal plasma membrane, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, lysosome, cytoplasm, GO:0043199, GO:0030246, GO:0008134, GO:0005515, sulfate binding, carbohydrate binding, transcription factor binding, protein binding, GO:2001214, GO:1901215, GO:1900168, GO:1900038, GO:1900035, GO:0098609, GO:0072254, GO:0072089, GO:0072011, GO:0071971, GO:0071657, GO:0071657, GO:0071636, GO:0071425, GO:0061042, GO:0060290, GO:0050900, GO:0050776, GO:0048870, GO:0045766, GO:0045019, GO:0042482, GO:0038001, GO:0035759, GO:0032733, GO:0032720, GO:0032703, GO:0030195, GO:0030097, GO:0010629, GO:0010628, GO:0008217, GO:0007165, GO:0007160, GO:0003158, GO:0003094, GO:0001935, GO:0001894, positive regulation of vasculogenesis, negative regulation of neuron death, positive regulation of glial cell-derived neurotrophic factor production, negative regulation of cellular response to hypoxia, negative regulation of cellular response to heat, cell-cell adhesion, metanephric glomerular mesangial cell differentiation, stem cell proliferation, glomerular endothelium development, extracellular exosome assembly, positive regulation of granulocyte colony-stimulating factor production, positive regulation of granulocyte colony-stimulating factor production, positive regulation of transforming growth factor beta production, hematopoietic stem cell proliferation, vascular wound healing, transdifferentiation, leukocyte migration, regulation of immune response, cell motility, positive regulation of angiogenesis, negative regulation of nitric oxide biosynthetic process, positive regulation of odontogenesis, paracrine signaling, mesangial cell-matrix adhesion, positive regulation of interleukin-10 production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-2 production, negative regulation of blood coagulation, hemopoiesis, negative regulation of gene expression, positive regulation of gene expression, regulation of blood pressure, signal transduction, cell-matrix adhesion, endothelium development, glomerular filtration, endothelial cell proliferation, tissue homeostasis, 1 0 0 4 0 0 4 0 0 ENSG00000174080 chr11 66563463 66568841 - CTSF protein_coding Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008]. 8722 GO:1903561, GO:0070062, GO:0062023, GO:0043202, GO:0005764, GO:0005615, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, lysosomal lumen, lysosome, extracellular space, GO:0004197, cysteine-type endopeptidase activity, GO:0051603, GO:0019886, GO:0006508, proteolysis involved in cellular protein catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class II, proteolysis, 3 1 10 26 9 22 18 7 12 ENSG00000174099 chr12 65278643 65491430 + MSRB3 protein_coding The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]. 253827 GO:0005829, GO:0005783, GO:0005739, GO:0005737, cytosol, endoplasmic reticulum, mitochondrion, cytoplasm, GO:0033745, GO:0033743, GO:0033743, GO:0008270, GO:0005515, L-methionine-(R)-S-oxide reductase activity, peptide-methionine (R)-S-oxide reductase activity, peptide-methionine (R)-S-oxide reductase activity, zinc ion binding, protein binding, GO:0055114, GO:0030091, GO:0030091, GO:0006979, oxidation-reduction process, protein repair, protein repair, response to oxidative stress, 93 57 110 26 32 17 25 29 40 ENSG00000174106 chr12 65169571 65248327 + LEMD3 protein_coding This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]. 23592 GO:0031965, GO:0016021, GO:0016020, GO:0005639, GO:0005637, nuclear membrane, integral component of membrane, membrane, integral component of nuclear inner membrane, nuclear inner membrane, GO:0031490, GO:0005515, chromatin DNA binding, protein binding, GO:1902531, GO:0032926, GO:0030514, GO:0030514, GO:0030512, GO:0006998, regulation of intracellular signal transduction, negative regulation of activin receptor signaling pathway, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, nuclear envelope organization, 756 518 1059 514 463 656 496 318 457 ENSG00000174109 chr16 1419744 1420800 - C16orf91 protein_coding 283951 GO:0016021, integral component of membrane, 39 26 30 4 11 7 20 11 9 ENSG00000174123 chr4 38772239 38782990 - TLR10 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010]. 81793 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0061809, GO:0050135, GO:0042802, GO:0038023, GO:0005515, GO:0004888, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, identical protein binding, signaling receptor activity, protein binding, transmembrane signaling receptor activity, GO:0050729, GO:0045087, GO:0034166, GO:0006955, GO:0006954, GO:0002755, GO:0002224, GO:0001817, positive regulation of inflammatory response, innate immune response, toll-like receptor 10 signaling pathway, immune response, inflammatory response, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of cytokine production, 241 240 208 307 291 292 331 240 232 ENSG00000174125 chr4 38790677 38856817 - TLR1 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]. 7096 GO:0045121, GO:0035354, GO:0035354, GO:0030670, GO:0016020, GO:0005887, GO:0005886, GO:0005794, membrane raft, Toll-like receptor 1-Toll-like receptor 2 protein complex, Toll-like receptor 1-Toll-like receptor 2 protein complex, phagocytic vesicle membrane, membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, GO:0071723, GO:0061809, GO:0050135, GO:0042802, GO:0038023, GO:0035663, GO:0035663, GO:0005515, GO:0004888, lipopeptide binding, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, identical protein binding, signaling receptor activity, Toll-like receptor 2 binding, Toll-like receptor 2 binding, protein binding, transmembrane signaling receptor activity, GO:0071727, GO:0071727, GO:0071221, GO:0045087, GO:0042495, GO:0042116, GO:0038123, GO:0034137, GO:0034130, GO:0032760, GO:0032757, GO:0032755, GO:0007165, GO:0006955, GO:0006954, GO:0002755, GO:0002224, GO:0002224, GO:0001817, GO:0001775, cellular response to triacyl bacterial lipopeptide, cellular response to triacyl bacterial lipopeptide, cellular response to bacterial lipopeptide, innate immune response, detection of triacyl bacterial lipopeptide, macrophage activation, toll-like receptor TLR1:TLR2 signaling pathway, positive regulation of toll-like receptor 2 signaling pathway, toll-like receptor 1 signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, signal transduction, immune response, inflammatory response, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of cytokine production, cell activation, 5608 3405 6957 1258 1967 1823 2087 1778 1837 ENSG00000174130 chr4 38823715 38856817 - TLR6 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]. 10333 GO:0045121, GO:0043235, GO:0035355, GO:0030670, GO:0005887, GO:0005886, GO:0005794, membrane raft, receptor complex, Toll-like receptor 2-Toll-like receptor 6 protein complex, phagocytic vesicle membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, GO:0071723, GO:0071723, GO:0061809, GO:0050135, GO:0046982, GO:0042802, GO:0042802, GO:0038023, GO:0035663, GO:0035663, GO:0005515, GO:0005102, GO:0004888, GO:0001540, lipopeptide binding, lipopeptide binding, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, protein heterodimerization activity, identical protein binding, identical protein binding, signaling receptor activity, Toll-like receptor 2 binding, Toll-like receptor 2 binding, protein binding, signaling receptor binding, transmembrane signaling receptor activity, amyloid-beta binding, GO:1904646, GO:1903428, GO:1903223, GO:1900227, GO:1900017, GO:0140052, GO:0071726, GO:0071726, GO:0071221, GO:0051092, GO:0046209, GO:0045429, GO:0045087, GO:0043507, GO:0043123, GO:0043032, GO:0042742, GO:0042496, GO:0038124, GO:0035666, GO:0034150, GO:0034136, GO:0032755, GO:0032717, GO:0032611, GO:0010628, GO:0007250, GO:0007165, GO:0006955, GO:0006954, GO:0002755, GO:0002755, GO:0002224, GO:0002224, GO:0001817, GO:0001775, GO:0001774, cellular response to amyloid-beta, positive regulation of reactive oxygen species biosynthetic process, positive regulation of oxidative stress-induced neuron death, positive regulation of NLRP3 inflammasome complex assembly, positive regulation of cytokine production involved in inflammatory response, cellular response to oxidised low-density lipoprotein particle stimulus, cellular response to diacyl bacterial lipopeptide, cellular response to diacyl bacterial lipopeptide, cellular response to bacterial lipopeptide, positive regulation of NF-kappaB transcription factor activity, nitric oxide metabolic process, positive regulation of nitric oxide biosynthetic process, innate immune response, positive regulation of JUN kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of macrophage activation, defense response to bacterium, detection of diacyl bacterial lipopeptide, toll-like receptor TLR6:TLR2 signaling pathway, TRIF-dependent toll-like receptor signaling pathway, toll-like receptor 6 signaling pathway, negative regulation of toll-like receptor 2 signaling pathway, positive regulation of interleukin-6 production, negative regulation of interleukin-8 production, interleukin-1 beta production, positive regulation of gene expression, activation of NF-kappaB-inducing kinase activity, signal transduction, immune response, inflammatory response, MyD88-dependent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of cytokine production, cell activation, microglial cell activation, 2255 1913 2863 1414 2290 2678 2030 1652 2450 ENSG00000174132 chr5 100535305 100586741 + FAM174A protein_coding 345757 GO:0016021, integral component of membrane, GO:0005515, protein binding, 220 281 154 201 479 203 270 448 270 ENSG00000174136 chr5 98768650 98798643 + RGMB protein_coding RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009]. 285704 GO:0046658, GO:0045121, GO:0005886, GO:0005793, anchored component of plasma membrane, membrane raft, plasma membrane, endoplasmic reticulum-Golgi intermediate compartment, GO:0042802, GO:0015026, GO:0005515, identical protein binding, coreceptor activity, protein binding, GO:0045893, GO:0030509, GO:0030509, GO:0007165, GO:0007155, positive regulation of transcription, DNA-templated, BMP signaling pathway, BMP signaling pathway, signal transduction, cell adhesion, 6 3 10 21 2 23 21 2 6 ENSG00000174137 chr4 1617915 1684302 - FAM53A protein_coding 152877 GO:0005634, nucleus, GO:0006606, protein import into nucleus, 3 12 4 0 3 0 7 10 1 ENSG00000174145 chr4 37244220 37449465 + NWD2 protein_coding 57495 0 0 0 0 0 0 1 0 0 ENSG00000174151 chr1 109494052 109502932 + CYB561D1 protein_coding 284613 GO:0016021, integral component of membrane, GO:0046872, GO:0020037, GO:0016491, GO:0005515, metal ion binding, heme binding, oxidoreductase activity, protein binding, GO:0055114, oxidation-reduction process, 261 202 344 105 196 185 194 159 151 ENSG00000174156 chr6 52896639 52909685 - GSTA3 protein_coding Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]. 2940 GO:0070062, GO:0005829, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, cytosol, GO:0004364, GO:0004364, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0006805, GO:0006749, GO:0006749, glutathione derivative biosynthetic process, xenobiotic metabolic process, glutathione metabolic process, glutathione metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000174165 chr11 66520637 66546238 - ZDHHC24 protein_coding 254359 GO:0016021, GO:0005794, GO:0005783, integral component of membrane, Golgi apparatus, endoplasmic reticulum, GO:0019706, GO:0005515, protein-cysteine S-palmitoyltransferase activity, protein binding, GO:0018230, GO:0006612, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 55 88 79 84 91 81 83 61 40 ENSG00000174171 chr15 41892793 41898575 + AC020659.1 antisense 23 7 18 57 17 46 25 7 19 ENSG00000174173 chr3 101561862 101566446 + TRMT10C protein_coding This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]. 54931 GO:0042645, GO:0030678, GO:0030678, GO:0005759, GO:0005739, GO:0005739, GO:0005654, GO:0005654, GO:0005634, mitochondrial nucleoid, mitochondrial ribonuclease P complex, mitochondrial ribonuclease P complex, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:0061953, GO:0052905, GO:0042802, GO:0016429, GO:0009019, GO:0009019, GO:0005515, GO:0003723, GO:0000049, GO:0000049, mRNA (adenine-N1-)-methyltransferase activity, tRNA (guanine(9)-N(1))-methyltransferase activity, identical protein binding, tRNA (adenine-N1-)-methyltransferase activity, tRNA (guanine-N1-)-methyltransferase activity, tRNA (guanine-N1-)-methyltransferase activity, protein binding, RNA binding, tRNA binding, tRNA binding, GO:1990180, GO:0097745, GO:0090646, GO:0090646, GO:0090646, GO:0080009, GO:0070901, GO:0070131, GO:0000964, mitochondrial tRNA 3'-end processing, mitochondrial tRNA 5'-end processing, mitochondrial tRNA processing, mitochondrial tRNA processing, mitochondrial tRNA processing, mRNA methylation, mitochondrial tRNA methylation, positive regulation of mitochondrial translation, mitochondrial RNA 5'-end processing, 33 23 45 48 23 62 32 19 40 ENSG00000174175 chr1 169588849 169630193 - SELP protein_coding This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]. 6403 GO:0031092, GO:0031092, GO:0031088, GO:0009897, GO:0005887, GO:0005886, GO:0005615, platelet alpha granule membrane, platelet alpha granule membrane, platelet dense granule membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, GO:0070492, GO:0048306, GO:0043208, GO:0042806, GO:0033691, GO:0008201, GO:0005515, GO:0005509, GO:0001530, oligosaccharide binding, calcium-dependent protein binding, glycosphingolipid binding, fucose binding, sialic acid binding, heparin binding, protein binding, calcium ion binding, lipopolysaccharide binding, GO:1903238, GO:0050901, GO:0050900, GO:0050829, GO:0035584, GO:0033623, GO:0032496, GO:0016339, GO:0014068, GO:0010572, GO:0007159, GO:0007157, GO:0007155, GO:0006954, GO:0002576, positive regulation of leukocyte tethering or rolling, leukocyte tethering or rolling, leukocyte migration, defense response to Gram-negative bacterium, calcium-mediated signaling using intracellular calcium source, regulation of integrin activation, response to lipopolysaccharide, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of platelet activation, leukocyte cell-cell adhesion, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, cell adhesion, inflammatory response, platelet degranulation, 43 46 80 69 58 56 49 28 60 ENSG00000174177 chr16 88706463 88715386 + CTU2 protein_coding This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 348180 GO:0032991, GO:0005829, GO:0005829, protein-containing complex, cytosol, cytosol, GO:0016783, GO:0016779, GO:0005515, GO:0000049, sulfurtransferase activity, nucleotidyltransferase activity, protein binding, tRNA binding, GO:0034227, GO:0032447, GO:0006400, GO:0002143, GO:0002098, tRNA thio-modification, protein urmylation, tRNA modification, tRNA wobble position uridine thiolation, tRNA wobble uridine modification, 23 47 45 31 21 46 40 35 35 ENSG00000174197 chr15 41621224 41773081 + MGA protein_coding 23269 GO:0071339, GO:0071339, GO:0005654, GO:0000785, GO:0000785, MLL1 complex, MLL1 complex, nucleoplasm, chromatin, chromatin, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070317, GO:0006357, GO:0001708, negative regulation of G0 to G1 transition, regulation of transcription by RNA polymerase II, cell fate specification, 251 211 318 261 199 327 212 194 241 ENSG00000174206 chr12 64186316 64222296 - C12orf66 protein_coding 144577 GO:0140007, GO:0140007, GO:0045171, GO:0005765, GO:0005764, KICSTOR complex, KICSTOR complex, intercellular bridge, lysosomal membrane, lysosome, GO:1904262, GO:1904262, GO:0061462, GO:0061462, GO:0042149, GO:0042149, GO:0034198, GO:0034198, negative regulation of TORC1 signaling, negative regulation of TORC1 signaling, protein localization to lysosome, protein localization to lysosome, cellular response to glucose starvation, cellular response to glucose starvation, cellular response to amino acid starvation, cellular response to amino acid starvation, 5 1 18 33 12 34 24 13 19 ENSG00000174225 chrX 100969708 100990829 + ARL13A protein_coding 392509 GO:0097730, GO:0060170, GO:0031514, non-motile cilium, ciliary membrane, motile cilium, GO:0005525, GTP binding, GO:1905515, GO:0097500, non-motile cilium assembly, receptor localization to non-motile cilium, 1 0 1 2 3 15 12 1 6 ENSG00000174226 chr8 100572882 100663415 - SNX31 protein_coding 169166 GO:0032991, GO:0005769, protein-containing complex, early endosome, GO:0035091, GO:0005515, phosphatidylinositol binding, protein binding, GO:1990126, GO:0006886, retrograde transport, endosome to plasma membrane, intracellular protein transport, 0 1 0 0 0 0 0 0 0 ENSG00000174227 chr4 499210 540196 + PIGG protein_coding This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 54872 GO:0030176, GO:0016020, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0051267, GO:0051267, GO:0016780, CP2 mannose-ethanolamine phosphotransferase activity, CP2 mannose-ethanolamine phosphotransferase activity, phosphotransferase activity, for other substituted phosphate groups, GO:0016254, GO:0006506, GO:0006506, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 464 544 629 542 718 717 586 504 655 ENSG00000174231 chr17 1650629 1684882 - PRPF8 protein_coding Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]. 10594 GO:0071013, GO:0071013, GO:0071007, GO:0071006, GO:0071005, GO:0046540, GO:0016607, GO:0016020, GO:0005682, GO:0005654, GO:0005634, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, nuclear speck, membrane, U5 snRNP, nucleoplasm, nucleus, GO:0097157, GO:0070530, GO:0070122, GO:0030623, GO:0030620, GO:0030619, GO:0017070, GO:0008237, GO:0005515, GO:0003723, pre-mRNA intronic binding, K63-linked polyubiquitin modification-dependent protein binding, isopeptidase activity, U5 snRNA binding, U2 snRNA binding, U1 snRNA binding, U6 snRNA binding, metallopeptidase activity, protein binding, RNA binding, GO:0071356, GO:0071222, GO:0008380, GO:0006508, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000375, GO:0000244, GO:0000244, cellular response to tumor necrosis factor, cellular response to lipopolysaccharide, RNA splicing, proteolysis, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, spliceosomal tri-snRNP complex assembly, spliceosomal tri-snRNP complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000174233 chr12 48766194 48789037 - ADCY6 protein_coding This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]. 112 GO:0032420, GO:0031226, GO:0016020, GO:0005929, GO:0005887, GO:0005886, stereocilium, intrinsic component of plasma membrane, membrane, cilium, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0019901, GO:0005524, GO:0005515, GO:0005080, GO:0004016, GO:0004016, metal ion binding, protein kinase binding, ATP binding, protein binding, protein kinase C binding, adenylate cyclase activity, adenylate cyclase activity, GO:1904322, GO:1904117, GO:0097746, GO:0071870, GO:0071380, GO:0071377, GO:0035811, GO:0034199, GO:0010977, GO:0007212, GO:0007193, GO:0007193, GO:0007190, GO:0007189, GO:0007189, GO:0007189, GO:0007186, GO:0006171, GO:0006171, GO:0003091, GO:0003091, cellular response to forskolin, cellular response to vasopressin, blood vessel diameter maintenance, cellular response to catecholamine stimulus, cellular response to prostaglandin E stimulus, cellular response to glucagon stimulus, negative regulation of urine volume, activation of protein kinase A activity, negative regulation of neuron projection development, dopamine receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cAMP biosynthetic process, cAMP biosynthetic process, renal water homeostasis, renal water homeostasis, 0 0 0 3 2 0 0 0 0 ENSG00000174236 chr12 27696519 27697596 + REP15 protein_coding The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [provided by RefSeq, Sep 2016]. 387849 GO:0055037, GO:0055037, GO:0048471, GO:0031901, GO:0010008, GO:0010008, recycling endosome, recycling endosome, perinuclear region of cytoplasm, early endosome membrane, endosome membrane, endosome membrane, GO:0005515, protein binding, GO:0033572, GO:0033572, GO:0001881, GO:0001881, transferrin transport, transferrin transport, receptor recycling, receptor recycling, 0 0 0 0 0 0 0 0 0 ENSG00000174238 chr17 1517718 1562816 - PITPNA protein_coding This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]. 5306 GO:0070062, GO:0005829, GO:0005737, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytoplasm, cytoplasm, nucleus, GO:1901611, GO:0120019, GO:0120019, GO:0035091, GO:0035091, GO:0035091, GO:0031210, GO:0031210, GO:0031210, GO:0008526, GO:0008526, GO:0008526, GO:0008525, GO:0008525, GO:0005515, phosphatidylglycerol binding, phosphatidylcholine transfer activity, phosphatidylcholine transfer activity, phosphatidylinositol binding, phosphatidylinositol binding, phosphatidylinositol binding, phosphatidylcholine binding, phosphatidylcholine binding, phosphatidylcholine binding, phosphatidylinositol transfer activity, phosphatidylinositol transfer activity, phosphatidylinositol transfer activity, phosphatidylcholine transporter activity, phosphatidylcholine transporter activity, protein binding, GO:0120009, GO:0035722, GO:0015914, GO:0007601, GO:0007409, GO:0006629, intermembrane lipid transfer, interleukin-12-mediated signaling pathway, phospholipid transport, visual perception, axonogenesis, lipid metabolic process, 3089 2353 3193 1763 2440 2144 2217 1732 1796 ENSG00000174243 chr12 48829764 48852842 - DDX23 protein_coding This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]. 9416 GO:0071013, GO:0071013, GO:0070062, GO:0046540, GO:0005730, GO:0005682, GO:0005654, GO:0005654, GO:0005634, GO:0000785, catalytic step 2 spliceosome, catalytic step 2 spliceosome, extracellular exosome, U4/U6 x U5 tri-snRNP complex, nucleolus, U5 snRNP, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0005524, GO:0005515, GO:0004386, GO:0003724, GO:0003723, GO:0003723, ATP binding, protein binding, helicase activity, RNA helicase activity, RNA binding, RNA binding, GO:0062176, GO:0008380, GO:0000398, GO:0000398, GO:0000398, GO:0000375, GO:0000354, R-loop disassembly, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, cis assembly of pre-catalytic spliceosome, 442 475 483 283 369 306 231 298 267 ENSG00000174255 chr3 114234631 114237578 - ZNF80 protein_coding 7634 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 7 10 14 5 7 10 2 6 ENSG00000174276 chr11 65116403 65117708 - ZNHIT2 protein_coding 741 GO:0046872, GO:0005515, metal ion binding, protein binding, 11 7 17 22 43 10 7 10 12 ENSG00000174279 chr2 176077472 176083913 - EVX2 protein_coding This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. [provided by RefSeq, Sep 2009]. 344191 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0035108, GO:0008150, GO:0006357, GO:0006357, limb morphogenesis, biological_process, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000174282 chr17 7459366 7484263 - ZBTB4 protein_coding 57659 GO:0016604, GO:0005829, GO:0005654, GO:0005634, GO:0000785, nuclear body, cytosol, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0043565, GO:0042803, GO:0019901, GO:0010428, GO:0008327, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000977, metal ion binding, sequence-specific DNA binding, protein homodimerization activity, protein kinase binding, methyl-CpNpG binding, methyl-CpG binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0006974, GO:0006355, GO:0000122, negative regulation of transcription, DNA-templated, cellular response to DNA damage stimulus, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 188 198 322 311 179 405 396 154 326 ENSG00000174292 chr17 7380534 7389774 + TNK1 protein_coding The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 8711 GO:0031234, GO:0016020, GO:0005829, GO:0005737, extrinsic component of cytoplasmic side of plasma membrane, membrane, cytosol, cytoplasm, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004715, GO:0004713, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, GO:0046777, GO:0046580, GO:0045087, GO:0042127, GO:0038083, GO:0030308, GO:0030154, GO:0007169, GO:0006468, protein autophosphorylation, negative regulation of Ras protein signal transduction, innate immune response, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, negative regulation of cell growth, cell differentiation, transmembrane receptor protein tyrosine kinase signaling pathway, protein phosphorylation, 4 2 7 13 9 3 16 6 8 ENSG00000174306 chr20 41178448 41317672 - ZHX3 protein_coding This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]. 23051 GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, chromatin, GO:0046982, GO:0046872, GO:0042803, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000977, protein heterodimerization activity, metal ion binding, protein homodimerization activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0045669, GO:0030154, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, positive regulation of osteoblast differentiation, cell differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 14 5 19 37 15 29 20 9 21 ENSG00000174307 chr1 201464383 201469237 - PHLDA3 protein_coding 23612 GO:0005886, GO:0005886, GO:0005737, plasma membrane, plasma membrane, cytoplasm, GO:0080025, GO:0043325, GO:0032266, GO:0010314, GO:0005547, GO:0005546, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, GO:0051898, GO:0051898, GO:0043065, GO:0043065, GO:0042771, GO:0042771, GO:0009653, negative regulation of protein kinase B signaling, negative regulation of protein kinase B signaling, positive regulation of apoptotic process, positive regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, anatomical structure morphogenesis, 2 0 0 0 1 0 0 0 0 ENSG00000174325 chr2 188733738 188790104 - DIRC1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000174326 chr17 7041630 7043923 - SLC16A11 protein_coding 162515 GO:0016021, GO:0005887, GO:0005886, GO:0005789, integral component of membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0050833, GO:0015293, GO:0008028, GO:0005515, pyruvate transmembrane transporter activity, symporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, GO:1901475, GO:0015718, GO:0006629, pyruvate transmembrane transport, monocarboxylic acid transport, lipid metabolic process, 3 0 0 2 3 6 1 4 0 ENSG00000174327 chr17 7036075 7040121 + SLC16A13 protein_coding 201232 GO:0016021, GO:0005887, GO:0005829, GO:0005794, GO:0000139, integral component of membrane, integral component of plasma membrane, cytosol, Golgi apparatus, Golgi membrane, GO:0015293, GO:0008028, GO:0005515, symporter activity, monocarboxylic acid transmembrane transporter activity, protein binding, GO:0055085, GO:0015718, transmembrane transport, monocarboxylic acid transport, 4 3 8 8 8 16 11 0 11 ENSG00000174332 chr1 53506237 53738106 - GLIS1 protein_coding GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]. 148979 GO:0005634, GO:0005634, nucleus, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045444, GO:0010454, GO:0006357, GO:0001649, GO:0000122, positive regulation of transcription by RNA polymerase II, fat cell differentiation, negative regulation of cell fate commitment, regulation of transcription by RNA polymerase II, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 1 0 0 0 0 ENSG00000174339 chr5 180739042 180740099 - OR2Y1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 134083 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000174343 chr4 40335329 40355217 + CHRNA9 protein_coding This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]. 55584 GO:0099060, GO:0098981, GO:0045202, GO:0043005, GO:0005892, GO:0005887, GO:0005887, GO:0005886, integral component of postsynaptic specialization membrane, cholinergic synapse, synapse, neuron projection, acetylcholine-gated channel complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0022848, GO:0022848, GO:0005515, GO:0005262, GO:0004888, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, protein binding, calcium channel activity, transmembrane signaling receptor activity, GO:0070588, GO:0070373, GO:0060079, GO:0050910, GO:0050877, GO:0042472, GO:0042391, GO:0034220, GO:0007268, GO:0007204, GO:0007165, calcium ion transmembrane transport, negative regulation of ERK1 and ERK2 cascade, excitatory postsynaptic potential, detection of mechanical stimulus involved in sensory perception of sound, nervous system process, inner ear morphogenesis, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, positive regulation of cytosolic calcium ion concentration, signal transduction, 0 0 0 0 1 0 0 0 4 ENSG00000174348 chr1 53062052 53085502 + PODN protein_coding The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]. 127435 GO:0062023, GO:0005737, GO:0005615, GO:0005615, GO:0005615, collagen-containing extracellular matrix, cytoplasm, extracellular space, extracellular space, extracellular space, GO:0030021, GO:0005518, extracellular matrix structural constituent conferring compression resistance, collagen binding, GO:0030336, GO:0008285, negative regulation of cell migration, negative regulation of cell population proliferation, 0 0 3 0 6 5 1 1 4 ENSG00000174353 chr7 72969696 73005922 - STAG3L3 transcribed_unprocessed_pseudogene 378108 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0016567, protein ubiquitination, 37 49 38 46 37 69 55 29 27 ENSG00000174358 chr5 1201595 1225117 + SLC6A19 protein_coding This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]. 340024 GO:0070062, GO:0031526, GO:0016324, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, brush border membrane, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015293, GO:0015175, GO:0015171, GO:0005515, symporter activity, neutral amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:0035725, GO:0015804, GO:0007584, GO:0006865, GO:0003333, sodium ion transmembrane transport, neutral amino acid transport, response to nutrient, amino acid transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000174365 chr20 38446578 38450921 + SNHG11 processed_transcript This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008]. 128439 3 4 6 9 7 4 4 7 9 ENSG00000174370 chr11 128899565 128906035 - C11orf45 protein_coding 219833 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000174371 chr1 241847967 241895148 + EXO1 protein_coding This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]. 9156 GO:0016604, GO:0005886, GO:0005654, GO:0005654, GO:0005634, GO:0005634, nuclear body, plasma membrane, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0051908, GO:0048256, GO:0046872, GO:0045145, GO:0035312, GO:0035312, GO:0017108, GO:0008409, GO:0008409, GO:0005515, GO:0004527, GO:0004523, GO:0003682, GO:0003677, double-stranded DNA 5'-3' exodeoxyribonuclease activity, flap endonuclease activity, metal ion binding, single-stranded DNA 5'-3' exodeoxyribonuclease activity, 5'-3' exodeoxyribonuclease activity, 5'-3' exodeoxyribonuclease activity, 5'-flap endonuclease activity, 5'-3' exonuclease activity, 5'-3' exonuclease activity, protein binding, exonuclease activity, RNA-DNA hybrid ribonuclease activity, chromatin binding, DNA binding, GO:1901796, GO:0090656, GO:0090502, GO:0051321, GO:0045190, GO:0016446, GO:0006310, GO:0006310, GO:0006298, GO:0006298, GO:0006298, GO:0006298, GO:0006298, GO:0006298, GO:0006281, GO:0006260, GO:0002455, regulation of signal transduction by p53 class mediator, t-circle formation, RNA phosphodiester bond hydrolysis, endonucleolytic, meiotic cell cycle, isotype switching, somatic hypermutation of immunoglobulin genes, DNA recombination, DNA recombination, mismatch repair, mismatch repair, mismatch repair, mismatch repair, mismatch repair, mismatch repair, DNA repair, DNA replication, humoral immune response mediated by circulating immunoglobulin, 3 2 1 8 1 4 1 0 4 ENSG00000174373 chr14 35538352 35809304 - RALGAPA1 protein_coding This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]. 253959 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0046982, GO:0005096, GO:0005096, protein heterodimerization activity, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0051056, activation of GTPase activity, regulation of small GTPase mediated signal transduction, 152 110 204 251 157 240 270 170 208 ENSG00000174384 chr7 73093657 73105389 + PMS2P6 unprocessed_pseudogene 0 0 1 0 1 18 11 0 0 ENSG00000174403 chr20 62544343 62551526 - MIR1-1HG-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000174405 chr13 108207439 108218368 - LIG4 protein_coding The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]. 3981 GO:0070419, GO:0036464, GO:0032807, GO:0032807, GO:0005958, GO:0005958, GO:0005958, GO:0005654, GO:0005654, GO:0005634, GO:0000793, GO:0000781, nonhomologous end joining complex, cytoplasmic ribonucleoprotein granule, DNA ligase IV complex, DNA ligase IV complex, DNA-dependent protein kinase-DNA ligase 4 complex, DNA-dependent protein kinase-DNA ligase 4 complex, DNA-dependent protein kinase-DNA ligase 4 complex, nucleoplasm, nucleoplasm, nucleus, condensed chromosome, chromosome, telomeric region, GO:0046872, GO:0016874, GO:0008022, GO:0005524, GO:0005515, GO:0003910, GO:0003910, GO:0003909, GO:0003909, GO:0003677, GO:0003677, metal ion binding, ligase activity, protein C-terminus binding, ATP binding, protein binding, DNA ligase (ATP) activity, DNA ligase (ATP) activity, DNA ligase activity, DNA ligase activity, DNA binding, DNA binding, GO:2001252, GO:0097680, GO:0075713, GO:0071897, GO:0071479, GO:0071285, GO:0051402, GO:0051301, GO:0051276, GO:0051103, GO:0051103, GO:0051103, GO:0051102, GO:0050769, GO:0048146, GO:0045190, GO:0043524, GO:0035019, GO:0033153, GO:0033152, GO:0033151, GO:0033077, GO:0010332, GO:0010165, GO:0008283, GO:0007417, GO:0007049, GO:0006303, GO:0006303, GO:0006303, GO:0006303, GO:0006303, GO:0006303, GO:0006302, GO:0006302, GO:0006297, GO:0006297, GO:0006266, GO:0006260, GO:0002328, GO:0001701, GO:0000012, positive regulation of chromosome organization, double-strand break repair via classical nonhomologous end joining, establishment of integrated proviral latency, DNA biosynthetic process, cellular response to ionizing radiation, cellular response to lithium ion, neuron apoptotic process, cell division, chromosome organization, DNA ligation involved in DNA repair, DNA ligation involved in DNA repair, DNA ligation involved in DNA repair, DNA ligation involved in DNA recombination, positive regulation of neurogenesis, positive regulation of fibroblast proliferation, isotype switching, negative regulation of neuron apoptotic process, somatic stem cell population maintenance, T cell receptor V(D)J recombination, immunoglobulin V(D)J recombination, V(D)J recombination, T cell differentiation in thymus, response to gamma radiation, response to X-ray, cell population proliferation, central nervous system development, cell cycle, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair, double-strand break repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA gap filling, DNA ligation, DNA replication, pro-B cell differentiation, in utero embryonic development, single strand break repair, 877 810 922 723 909 1213 905 648 726 ENSG00000174407 chr20 62550453 62570764 + MIR1-1HG antisense 128826 0 0 0 0 0 0 0 0 0 ENSG00000174408 chr13 106863816 106864286 - PPIAP24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000174417 chr8 109086621 109119584 + TRHR protein_coding This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011]. 7201 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0004997, protein binding, thyrotropin-releasing hormone receptor activity, GO:0007200, GO:0007186, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000174418 chr13 106425773 106426122 + RPL35P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000174428 chr7 75092573 75149817 + GTF2IRD2B protein_coding This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 389524 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0005515, GO:0003677, GO:0000981, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 47 59 66 87 47 116 75 57 75 ENSG00000174429 chr8 106759483 106770245 - ABRA protein_coding 137735 GO:0030017, GO:0030017, GO:0015629, GO:0005886, sarcomere, sarcomere, actin cytoskeleton, plasma membrane, GO:0005515, GO:0003779, protein binding, actin binding, GO:0051091, GO:0051091, GO:0045944, GO:0035025, GO:0035025, GO:0006606, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of Rho protein signal transduction, positive regulation of Rho protein signal transduction, protein import into nucleus, 0 0 0 0 0 0 0 0 2 ENSG00000174437 chr12 110280756 110351093 + ATP2A2 protein_coding This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]. 488 GO:0120025, GO:0097470, GO:0061831, GO:0048471, GO:0033017, GO:0033017, GO:0032991, GO:0031234, GO:0031095, GO:0016529, GO:0016020, GO:0012506, GO:0005887, GO:0005789, GO:0005789, GO:0005783, plasma membrane bounded cell projection, ribbon synapse, apical ectoplasmic specialization, perinuclear region of cytoplasm, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, protein-containing complex, extrinsic component of cytoplasmic side of plasma membrane, platelet dense tubular network membrane, sarcoplasmic reticulum, membrane, vesicle membrane, integral component of plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0086039, GO:0086039, GO:0086039, GO:0086039, GO:0044548, GO:0044325, GO:0031775, GO:0019899, GO:0016887, GO:0008553, GO:0005524, GO:0005515, GO:0005509, GO:0005388, GO:0005388, calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential, calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential, calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential, calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential, S100 protein binding, ion channel binding, lutropin-choriogonadotropic hormone receptor binding, enzyme binding, ATPase activity, proton-exporting ATPase activity, phosphorylative mechanism, ATP binding, protein binding, calcium ion binding, calcium transmembrane transporter activity, phosphorylative mechanism, calcium transmembrane transporter activity, phosphorylative mechanism, GO:1990036, GO:1990036, GO:1903779, GO:1903515, GO:1903233, GO:1902600, GO:1900121, GO:0098909, GO:0086036, GO:0086036, GO:0086036, GO:0070588, GO:0070588, GO:0070296, GO:0055119, GO:0045822, GO:0034976, GO:0034605, GO:0034599, GO:0034220, GO:0033292, GO:0032496, GO:0032470, GO:0032469, GO:0014898, GO:0014883, GO:0010882, GO:0010460, GO:0008544, GO:0007155, GO:0006996, GO:0006984, GO:0006874, GO:0006874, GO:0003009, GO:0002026, calcium ion import into sarcoplasmic reticulum, calcium ion import into sarcoplasmic reticulum, regulation of cardiac conduction, calcium ion transport from cytosol to endoplasmic reticulum, regulation of calcium ion-dependent exocytosis of neurotransmitter, proton transmembrane transport, negative regulation of receptor binding, regulation of cardiac muscle cell action potential involved in regulation of contraction, regulation of cardiac muscle cell membrane potential, regulation of cardiac muscle cell membrane potential, regulation of cardiac muscle cell membrane potential, calcium ion transmembrane transport, calcium ion transmembrane transport, sarcoplasmic reticulum calcium ion transport, relaxation of cardiac muscle, negative regulation of heart contraction, response to endoplasmic reticulum stress, cellular response to heat, cellular response to oxidative stress, ion transmembrane transport, T-tubule organization, response to lipopolysaccharide, positive regulation of endoplasmic reticulum calcium ion concentration, endoplasmic reticulum calcium ion homeostasis, cardiac muscle hypertrophy in response to stress, transition between fast and slow fiber, regulation of cardiac muscle contraction by calcium ion signaling, positive regulation of heart rate, epidermis development, cell adhesion, organelle organization, ER-nucleus signaling pathway, cellular calcium ion homeostasis, cellular calcium ion homeostasis, skeletal muscle contraction, regulation of the force of heart contraction, 401 344 642 423 270 560 391 176 390 ENSG00000174442 chr15 66504959 66550128 + ZWILCH protein_coding 55055 GO:1990423, GO:0005829, GO:0000777, GO:0000776, RZZ complex, cytosol, condensed chromosome kinetochore, kinetochore, GO:0005515, protein binding, GO:0051301, GO:0007093, cell division, mitotic cell cycle checkpoint, 19 32 37 32 12 23 18 12 15 ENSG00000174444 chr15 66498015 66524532 - RPL4 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6124 GO:1990904, GO:0070062, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, GO:0005791, GO:0005737, GO:0005730, GO:0005634, GO:0005634, ribonucleoprotein complex, extracellular exosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, rough endoplasmic reticulum, cytoplasm, nucleolus, nucleus, nucleus, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1305 801 2046 4384 1727 4570 3170 1569 3257 ENSG00000174446 chr15 66490135 66497813 - SNAPC5 protein_coding This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016]. 10302 GO:0016604, GO:0005730, GO:0005654, GO:0005654, GO:0005634, nuclear body, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0016251, GO:0005515, GO:0000995, RNA polymerase II general transcription initiation factor activity, protein binding, RNA polymerase III general transcription initiation factor activity, GO:0042796, GO:0042795, GO:0042795, GO:0006384, snRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, snRNA transcription by RNA polymerase II, transcription initiation from RNA polymerase III promoter, 94 62 80 40 51 46 49 44 61 ENSG00000174448 chr18 54324358 54357964 - STARD6 protein_coding Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]. 147323 GO:0008289, lipid binding, GO:0006869, lipid transport, 0 0 0 1 0 0 0 0 0 ENSG00000174450 chr15 23439498 23447234 - GOLGA6L2 protein_coding 283685 0 0 0 0 0 0 0 0 0 ENSG00000174453 chr2 214411065 214578959 + VWC2L protein_coding 402117 GO:0045202, GO:0032281, GO:0005615, synapse, AMPA glutamate receptor complex, extracellular space, GO:0005515, protein binding, GO:0045666, GO:0030514, positive regulation of neuron differentiation, negative regulation of BMP signaling pathway, 0 0 0 3 0 0 0 0 0 ENSG00000174456 chr12 110027028 110073686 - C12orf76 protein_coding 400073 482 466 776 390 507 594 390 372 570 ENSG00000174460 chrX 118823790 118826968 + ZCCHC12 protein_coding This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 170261 GO:0005634, nucleus, GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, GO:1903508, positive regulation of nucleic acid-templated transcription, 0 1 2 0 2 0 0 1 0 ENSG00000174469 chr7 146116002 148420998 + CNTNAP2 protein_coding This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]. 26047 GO:0044224, GO:0043204, GO:0043025, GO:0033010, GO:0030673, GO:0030425, GO:0030424, GO:0016021, GO:0016020, GO:0009986, GO:0008076, GO:0008076, GO:0005794, GO:0005769, juxtaparanode region of axon, perikaryon, neuronal cell body, paranodal junction, axolemma, dendrite, axon, integral component of membrane, membrane, cell surface, voltage-gated potassium channel complex, voltage-gated potassium channel complex, Golgi apparatus, early endosome, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:0071625, GO:0071205, GO:0071109, GO:0048812, GO:0045163, GO:0042297, GO:0035176, GO:0031175, GO:0030534, GO:0021987, GO:0021794, GO:0021761, GO:0021756, GO:0019226, GO:0008038, GO:0007612, GO:0007420, GO:0007155, vocalization behavior, protein localization to juxtaparanode region of axon, superior temporal gyrus development, neuron projection morphogenesis, clustering of voltage-gated potassium channels, vocal learning, social behavior, neuron projection development, adult behavior, cerebral cortex development, thalamus development, limbic system development, striatum development, transmission of nerve impulse, neuron recognition, learning, brain development, cell adhesion, 1 3 1 0 0 0 0 2 0 ENSG00000174473 chr4 171812254 173041559 + GALNTL6 protein_coding 442117 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0018243, protein O-linked glycosylation via threonine, 0 0 0 0 0 0 0 0 0 ENSG00000174482 chr9 27948078 28670286 - LINGO2 protein_coding 158038 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, GO:0051965, positive regulation of synapse assembly, 0 0 3 0 0 7 0 0 6 ENSG00000174483 chr11 66510606 66533627 + BBS1 protein_coding Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]. 582 GO:0060170, GO:0036064, GO:0034464, GO:0034464, GO:0005930, GO:0005829, GO:0005813, GO:0005813, ciliary membrane, ciliary basal body, BBSome, BBSome, axoneme, cytosol, centrosome, centrosome, GO:0005515, GO:0005119, GO:0005119, GO:0005113, GO:0005113, GO:0001103, protein binding, smoothened binding, smoothened binding, patched binding, patched binding, RNA polymerase II repressing transcription factor binding, GO:1905515, GO:1905515, GO:0061512, GO:0061512, GO:0060271, GO:0050896, GO:0045494, GO:0043001, GO:0007608, GO:0007601, non-motile cilium assembly, non-motile cilium assembly, protein localization to cilium, protein localization to cilium, cilium assembly, response to stimulus, photoreceptor cell maintenance, Golgi to plasma membrane protein transport, sensory perception of smell, visual perception, 18 20 24 13 41 25 27 12 17 ENSG00000174485 chr15 65658046 65792293 - DENND4A protein_coding This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]. 10260 GO:0031410, GO:0005829, GO:0005634, cytoplasmic vesicle, cytosol, nucleus, GO:0005515, GO:0005085, GO:0005085, GO:0003677, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, DNA binding, GO:0032483, GO:0006355, regulation of Rab protein signal transduction, regulation of transcription, DNA-templated, 725 912 720 528 648 444 588 492 428 ENSG00000174495 chr7 28279211 28279700 - PPIAP80 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000174498 chr15 65327127 65378040 - IGDCC3 protein_coding 9543 GO:0005887, integral component of plasma membrane, GO:0050885, neuromuscular process controlling balance, 0 0 0 0 0 0 0 0 0 ENSG00000174500 chr3 112120841 112133305 - GCSAM protein_coding This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 257144 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0045159, GO:0019901, GO:0005515, GO:0003779, myosin II binding, protein kinase binding, protein binding, actin binding, GO:2000402, GO:2000402, GO:0050855, GO:0050855, negative regulation of lymphocyte migration, negative regulation of lymphocyte migration, regulation of B cell receptor signaling pathway, regulation of B cell receptor signaling pathway, 16 6 59 62 25 39 43 20 35 ENSG00000174501 chr2 95836919 95991831 - ANKRD36C protein_coding 400986 GO:0008200, ion channel inhibitor activity, 18 14 42 39 14 101 80 14 49 ENSG00000174502 chr1 205913048 205943460 - SLC26A9 protein_coding This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]. 115019 GO:0070062, GO:0016324, GO:0009986, GO:0005887, GO:0005886, extracellular exosome, apical plasma membrane, cell surface, integral component of plasma membrane, plasma membrane, GO:0051117, GO:0019531, GO:0015301, GO:0015301, GO:0015116, GO:0015108, GO:0015106, GO:0008271, GO:0005254, ATPase binding, oxalate transmembrane transporter activity, anion:anion antiporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, chloride channel activity, GO:1902476, GO:1902358, GO:0019532, GO:0015701, GO:0010628, GO:0006821, GO:0006820, GO:0006811, chloride transmembrane transport, sulfate transmembrane transport, oxalate transport, bicarbonate transport, positive regulation of gene expression, chloride transport, anion transport, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000174514 chr1 205568885 205602918 + MFSD4A protein_coding 148808 GO:0016021, integral component of membrane, GO:0005355, glucose transmembrane transporter activity, GO:1904659, glucose transmembrane transport, 4 5 5 13 8 4 7 6 3 ENSG00000174516 chr11 66466327 66477337 + PELI3 protein_coding The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]. 246330 GO:0005829, cytosol, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:2001237, GO:0070534, GO:0070498, GO:0010804, GO:0008592, GO:0008063, GO:0000209, negative regulation of extrinsic apoptotic signaling pathway, protein K63-linked ubiquitination, interleukin-1-mediated signaling pathway, negative regulation of tumor necrosis factor-mediated signaling pathway, regulation of Toll signaling pathway, Toll signaling pathway, protein polyubiquitination, 5 0 20 10 7 16 2 9 14 ENSG00000174521 chr19 40216058 40218399 - TTC9B protein_coding 148014 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 1 2 2 4 0 2 0 ENSG00000174527 chr12 109347903 109455523 + MYO1H protein_coding 283446 GO:0031982, GO:0016459, GO:0015629, GO:0005902, GO:0005886, GO:0005737, vesicle, myosin complex, actin cytoskeleton, microvillus, plasma membrane, cytoplasm, GO:0051015, GO:0030898, GO:0005524, GO:0000146, actin filament binding, actin-dependent ATPase activity, ATP binding, microfilament motor activity, GO:0030050, GO:0007015, vesicle transport along actin filament, actin filament organization, 0 6 0 1 0 1 0 4 2 ENSG00000174529 chr1 205083129 205084460 - TMEM81 protein_coding 388730 GO:0016021, integral component of membrane, 22 28 23 19 41 45 17 30 28 ENSG00000174547 chr11 66435075 66466738 - MRPL11 protein_coding This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]. 65003 GO:0015934, GO:0005762, GO:0005762, GO:0005761, GO:0005743, GO:0005739, large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0070180, GO:0005515, GO:0003735, GO:0003735, GO:0003723, large ribosomal subunit rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, GO:0006412, GO:0000027, mitochondrial translational termination, mitochondrial translational elongation, translation, translation, ribosomal large subunit assembly, 8 9 27 30 16 51 31 6 32 ENSG00000174562 chr19 50825289 50837213 - KLK15 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 55554 GO:0030141, GO:0005576, secretory granule, extracellular region, GO:0008236, GO:0005515, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000174564 chr3 136946230 137011085 + IL20RB protein_coding IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009]. 53833 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0042015, GO:0005515, GO:0004896, interleukin-20 binding, protein binding, cytokine receptor activity, GO:0048873, GO:0042130, GO:0032753, GO:0032733, GO:0032703, GO:0032689, GO:0019221, GO:0019221, GO:0002765, GO:0002437, GO:0001808, homeostasis of number of cells within a tissue, negative regulation of T cell proliferation, positive regulation of interleukin-4 production, positive regulation of interleukin-10 production, negative regulation of interleukin-2 production, negative regulation of interferon-gamma production, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, immune response-inhibiting signal transduction, inflammatory response to antigenic stimulus, negative regulation of type IV hypersensitivity, 8 2 6 19 7 2 11 10 3 ENSG00000174567 chr1 204198160 204214092 - GOLT1A protein_coding 127845 GO:0016021, GO:0016020, GO:0005802, GO:0005783, GO:0005783, GO:0005635, GO:0000139, GO:0000137, integral component of membrane, membrane, trans-Golgi network, endoplasmic reticulum, endoplasmic reticulum, nuclear envelope, Golgi membrane, Golgi cis cisterna, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0015031, GO:0008150, GO:0006888, protein transport, biological_process, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 0 0 0 0 1 0 0 ENSG00000174572 chr6 27211244 27211913 + RPL10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000174574 chr1 38991223 39006059 + AKIRIN1 protein_coding 79647 GO:0031965, GO:0005654, GO:0005634, GO:0005634, nuclear membrane, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003712, GO:0001228, protein binding, transcription coregulator activity, DNA-binding transcription activator activity, RNA polymerase II-specific, GO:1902725, GO:1902723, GO:1902723, GO:0045944, GO:0045663, GO:0045663, GO:0014839, GO:0014839, GO:0010759, GO:0010759, GO:0010592, GO:0010592, negative regulation of satellite cell differentiation, negative regulation of skeletal muscle satellite cell proliferation, negative regulation of skeletal muscle satellite cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of myoblast differentiation, positive regulation of myoblast differentiation, myoblast migration involved in skeletal muscle regeneration, myoblast migration involved in skeletal muscle regeneration, positive regulation of macrophage chemotaxis, positive regulation of macrophage chemotaxis, positive regulation of lamellipodium assembly, positive regulation of lamellipodium assembly, 2478 2137 3194 1202 1658 1593 1363 1335 1276 ENSG00000174576 chr11 66421004 66426707 + NPAS4 protein_coding NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]. 266743 GO:0098794, GO:0005667, GO:0000785, GO:0000785, postsynapse, transcription regulator complex, chromatin, chromatin, GO:0046982, GO:0044877, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein heterodimerization activity, protein-containing complex binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1904862, GO:0071386, GO:0060080, GO:0060079, GO:0048167, GO:0045944, GO:0035176, GO:0032228, GO:0030154, GO:0007616, GO:0007614, GO:0007612, GO:0006357, inhibitory synapse assembly, cellular response to corticosterone stimulus, inhibitory postsynaptic potential, excitatory postsynaptic potential, regulation of synaptic plasticity, positive regulation of transcription by RNA polymerase II, social behavior, regulation of synaptic transmission, GABAergic, cell differentiation, long-term memory, short-term memory, learning, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 1 0 0 ENSG00000174579 chr3 136148922 136197241 - MSL2 protein_coding 55167 GO:0072487, GO:0072487, GO:0005654, MSL complex, MSL complex, nucleoplasm, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0043984, GO:0043984, GO:0016567, histone H4-K16 acetylation, histone H4-K16 acetylation, protein ubiquitination, 1005 698 1719 683 1137 1177 846 835 972 ENSG00000174586 chr19 58354357 58362848 - ZNF497 protein_coding 162968 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 1 1 0 0 4 13 2 4 ENSG00000174599 chr4 117083554 117085576 - TRAM1L1 protein_coding 133022 GO:0030176, integral component of endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0045048, GO:0006616, protein insertion into ER membrane, SRP-dependent cotranslational protein targeting to membrane, translocation, 0 0 0 0 0 0 0 0 0 ENSG00000174600 chr12 108288044 108339341 - CMKLR1 protein_coding 1240 GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0004950, GO:0004930, GO:0004930, GO:0004875, signaling receptor activity, protein binding, chemokine receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, complement receptor activity, GO:0120162, GO:0070098, GO:0050848, GO:0050848, GO:0045600, GO:0032695, GO:0032088, GO:0010759, GO:0010759, GO:0007204, GO:0007200, GO:0007186, GO:0007186, GO:0006955, GO:0006954, GO:0006935, GO:0006935, GO:0002430, GO:0001501, positive regulation of cold-induced thermogenesis, chemokine-mediated signaling pathway, regulation of calcium-mediated signaling, regulation of calcium-mediated signaling, positive regulation of fat cell differentiation, negative regulation of interleukin-12 production, negative regulation of NF-kappaB transcription factor activity, positive regulation of macrophage chemotaxis, positive regulation of macrophage chemotaxis, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, inflammatory response, chemotaxis, chemotaxis, complement receptor mediated signaling pathway, skeletal system development, 2 4 13 16 25 36 11 17 41 ENSG00000174606 chr1 212992182 213015826 - ANGEL2 protein_coding 90806 GO:0015030, GO:0005737, Cajal body, cytoplasm, GO:0003730, GO:0003730, GO:0000175, mRNA 3'-UTR binding, mRNA 3'-UTR binding, 3'-5'-exoribonuclease activity, GO:0090503, GO:0070935, GO:0070935, GO:0045930, RNA phosphodiester bond hydrolysis, exonucleolytic, 3'-UTR-mediated mRNA stabilization, 3'-UTR-mediated mRNA stabilization, negative regulation of mitotic cell cycle, 205 217 283 259 360 311 324 230 236 ENSG00000174607 chr4 114598455 114678224 + UGT8 protein_coding The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]. 7368 GO:0043231, GO:0016021, GO:0005886, GO:0005783, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, endoplasmic reticulum, GO:0047263, GO:0008489, GO:0008194, GO:0003851, N-acylsphingosine galactosyltransferase activity, UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity, UDP-glycosyltransferase activity, 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity, GO:0048812, GO:0030913, GO:0007422, GO:0007417, GO:0007010, GO:0006687, GO:0006682, GO:0006682, GO:0002175, neuron projection morphogenesis, paranodal junction assembly, peripheral nervous system development, central nervous system development, cytoskeleton organization, glycosphingolipid metabolic process, galactosylceramide biosynthetic process, galactosylceramide biosynthetic process, protein localization to paranode region of axon, 0 1 0 3 2 1 3 5 3 ENSG00000174611 chr3 134603138 134651636 - KY protein_coding The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]. 339855 GO:0030018, GO:0005856, Z disc, cytoskeleton, GO:0008233, peptidase activity, GO:0006508, proteolysis, 256 527 345 929 1946 1145 824 1437 811 ENSG00000174628 chr16 19716456 19858467 + IQCK protein_coding This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 124152 3 0 7 0 0 4 4 2 3 ENSG00000174640 chr3 133928145 134052184 - SLCO2A1 protein_coding This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]. 6578 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0015347, GO:0015132, GO:0015132, GO:0005319, sodium-independent organic anion transmembrane transporter activity, prostaglandin transmembrane transporter activity, prostaglandin transmembrane transporter activity, lipid transporter activity, GO:0055085, GO:0043252, GO:0043252, GO:0015732, GO:0006869, transmembrane transport, sodium-independent organic anion transport, sodium-independent organic anion transport, prostaglandin transport, lipid transport, 0 0 0 0 0 0 0 0 0 ENSG00000174652 chr19 9412461 9435578 - ZNF266 protein_coding This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]. 10781 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 458 365 661 640 398 747 578 292 420 ENSG00000174667 chr19 9210276 9219589 - OR7D4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 125958 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000174669 chr11 66362521 66372214 - SLC29A2 protein_coding The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]. 3177 GO:0098793, GO:0031965, GO:0016323, GO:0016323, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005730, presynapse, nuclear membrane, basolateral plasma membrane, basolateral plasma membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, nucleolus, GO:0015213, GO:0015211, GO:0015211, GO:0005337, GO:0005326, GO:0005326, uridine transmembrane transporter activity, purine nucleoside transmembrane transporter activity, purine nucleoside transmembrane transporter activity, nucleoside transmembrane transporter activity, neurotransmitter transmembrane transporter activity, neurotransmitter transmembrane transporter activity, GO:1901642, GO:0150104, GO:0098810, GO:0072531, GO:0035364, GO:0035344, GO:0032238, GO:0032238, GO:0015862, GO:0015862, GO:0015860, GO:0015860, GO:0015858, GO:0015854, GO:0015853, GO:0006836, GO:0001504, nucleoside transmembrane transport, transport across blood-brain barrier, neurotransmitter reuptake, pyrimidine-containing compound transmembrane transport, thymine transport, hypoxanthine transport, adenosine transport, adenosine transport, uridine transport, uridine transport, purine nucleoside transmembrane transport, purine nucleoside transmembrane transport, nucleoside transport, guanine transport, adenine transport, neurotransmitter transport, neurotransmitter uptake, 4 2 11 12 1 14 12 0 23 ENSG00000174672 chr11 1389899 1462689 + BRSK2 protein_coding 9024 GO:0150034, GO:0048471, GO:0005813, GO:0005813, GO:0005783, GO:0005737, GO:0005737, GO:0005634, distal axon, perinuclear region of cytoplasm, centrosome, centrosome, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0060590, GO:0051117, GO:0050321, GO:0050321, GO:0050321, GO:0050321, GO:0048156, GO:0019901, GO:0005524, GO:0004674, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATPase regulator activity, ATPase binding, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau-protein kinase activity, tau protein binding, protein kinase binding, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:2000807, GO:1904152, GO:1904152, GO:0090176, GO:0070059, GO:0061178, GO:0061178, GO:0051301, GO:0050770, GO:0043462, GO:0042149, GO:0036503, GO:0035556, GO:0031532, GO:0030182, GO:0030010, GO:0030010, GO:0018105, GO:0010975, GO:0007409, GO:0007409, GO:0006887, GO:0006468, GO:0006468, GO:0000086, regulation of synaptic vesicle clustering, regulation of retrograde protein transport, ER to cytosol, regulation of retrograde protein transport, ER to cytosol, microtubule cytoskeleton organization involved in establishment of planar polarity, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, regulation of insulin secretion involved in cellular response to glucose stimulus, regulation of insulin secretion involved in cellular response to glucose stimulus, cell division, regulation of axonogenesis, regulation of ATPase activity, cellular response to glucose starvation, ERAD pathway, intracellular signal transduction, actin cytoskeleton reorganization, neuron differentiation, establishment of cell polarity, establishment of cell polarity, peptidyl-serine phosphorylation, regulation of neuron projection development, axonogenesis, axonogenesis, exocytosis, protein phosphorylation, protein phosphorylation, G2/M transition of mitotic cell cycle, 4 0 2 0 4 4 4 1 2 ENSG00000174677 chr19 53315137 53316043 + VN1R6P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000174678 chrX 37541077 37545262 - FAM47DP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000174680 chr21 29748175 29764002 + GRIK1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000174684 chr11 66345372 66347692 - B4GAT1 protein_coding This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]. 11041 GO:0070062, GO:0030173, GO:0005794, GO:0000139, extracellular exosome, integral component of Golgi membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0015020, GO:0008532, GO:0005515, metal ion binding, glucuronosyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, protein binding, GO:0035269, GO:0030311, GO:0018146, GO:0006493, protein O-linked mannosylation, poly-N-acetyllactosamine biosynthetic process, keratan sulfate biosynthetic process, protein O-linked glycosylation, 2 0 4 1 0 6 3 0 7 ENSG00000174695 chr5 83052846 83077863 - TMEM167A protein_coding 153339 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0005515, protein binding, GO:0046907, GO:0045054, GO:0009306, intracellular transport, constitutive secretory pathway, protein secretion, 974 913 933 477 684 586 633 643 506 ENSG00000174697 chr7 128241284 128257628 + LEP protein_coding This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]. 3952 GO:0005829, GO:0005615, GO:0005615, GO:0005576, cytosol, extracellular space, extracellular space, extracellular region, GO:1990460, GO:0051428, GO:0005515, GO:0005179, leptin receptor binding, peptide hormone receptor binding, protein binding, hormone activity, GO:2000491, GO:2000486, GO:2000379, GO:1990051, GO:1990051, GO:1904651, GO:1900745, GO:1900745, GO:1900015, GO:0120162, GO:0098868, GO:0090335, GO:0071300, GO:0071298, GO:0070093, GO:0061037, GO:0060612, GO:0060587, GO:0051897, GO:0051726, GO:0051541, GO:0050999, GO:0050901, GO:0050892, GO:0050810, GO:0050796, GO:0048639, GO:0046881, GO:0046850, GO:0046628, GO:0046427, GO:0046427, GO:0046325, GO:0045906, GO:0045765, GO:0045471, GO:0044320, GO:0043410, GO:0043410, GO:0043270, GO:0043066, GO:0042755, GO:0042593, GO:0042531, GO:0042445, GO:0042307, GO:0042269, GO:0042102, GO:0038108, GO:0038108, GO:0035904, GO:0035630, GO:0035556, GO:0035360, GO:0033686, GO:0033210, GO:0033197, GO:0032869, GO:0032868, GO:0032817, GO:0032814, GO:0032760, GO:0032637, GO:0032635, GO:0032615, GO:0032355, GO:0032310, GO:0032099, GO:0032008, GO:0032008, GO:0030300, GO:0030217, GO:0030073, GO:0021954, GO:0019953, GO:0014823, GO:0014068, GO:0014068, GO:0014068, GO:0010888, GO:0010507, GO:0008343, GO:0008340, GO:0008217, GO:0008206, GO:0008203, GO:0007623, GO:0007565, GO:0007260, GO:0006909, GO:0006635, GO:0006629, GO:0006114, GO:0006112, GO:0006111, GO:0006006, GO:0003300, GO:0002021, GO:0001936, GO:0001934, GO:0001890, GO:0001666, GO:0001542, GO:0001525, GO:0000122, positive regulation of hepatic stellate cell activation, negative regulation of glutamine transport, positive regulation of reactive oxygen species metabolic process, activation of protein kinase C activity, activation of protein kinase C activity, positive regulation of fat cell apoptotic process, positive regulation of p38MAPK cascade, positive regulation of p38MAPK cascade, regulation of cytokine production involved in inflammatory response, positive regulation of cold-induced thermogenesis, bone growth, regulation of brown fat cell differentiation, cellular response to retinoic acid, cellular response to L-ascorbic acid, negative regulation of glucagon secretion, negative regulation of cartilage development, adipose tissue development, regulation of lipoprotein lipid oxidation, positive regulation of protein kinase B signaling, regulation of cell cycle, elastin metabolic process, regulation of nitric-oxide synthase activity, leukocyte tethering or rolling, intestinal absorption, regulation of steroid biosynthetic process, regulation of insulin secretion, positive regulation of developmental growth, positive regulation of follicle-stimulating hormone secretion, regulation of bone remodeling, positive regulation of insulin receptor signaling pathway, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of receptor signaling pathway via JAK-STAT, negative regulation of glucose import, negative regulation of vasoconstriction, regulation of angiogenesis, response to ethanol, cellular response to leptin stimulus, positive regulation of MAPK cascade, positive regulation of MAPK cascade, positive regulation of ion transport, negative regulation of apoptotic process, eating behavior, glucose homeostasis, positive regulation of tyrosine phosphorylation of STAT protein, hormone metabolic process, positive regulation of protein import into nucleus, regulation of natural killer cell mediated cytotoxicity, positive regulation of T cell proliferation, negative regulation of appetite by leptin-mediated signaling pathway, negative regulation of appetite by leptin-mediated signaling pathway, aorta development, bone mineralization involved in bone maturation, intracellular signal transduction, positive regulation of peroxisome proliferator activated receptor signaling pathway, positive regulation of luteinizing hormone secretion, leptin-mediated signaling pathway, response to vitamin E, cellular response to insulin stimulus, response to insulin, regulation of natural killer cell proliferation, regulation of natural killer cell activation, positive regulation of tumor necrosis factor production, interleukin-8 production, interleukin-6 production, interleukin-12 production, response to estradiol, prostaglandin secretion, negative regulation of appetite, positive regulation of TOR signaling, positive regulation of TOR signaling, regulation of intestinal cholesterol absorption, T cell differentiation, insulin secretion, central nervous system neuron development, sexual reproduction, response to activity, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of lipid storage, negative regulation of autophagy, adult feeding behavior, determination of adult lifespan, regulation of blood pressure, bile acid metabolic process, cholesterol metabolic process, circadian rhythm, female pregnancy, tyrosine phosphorylation of STAT protein, phagocytosis, fatty acid beta-oxidation, lipid metabolic process, glycerol biosynthetic process, energy reserve metabolic process, regulation of gluconeogenesis, glucose metabolic process, cardiac muscle hypertrophy, response to dietary excess, regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, placenta development, response to hypoxia, ovulation from ovarian follicle, angiogenesis, negative regulation of transcription by RNA polymerase II, 1 7 11 0 3 0 3 3 0 ENSG00000174705 chr5 172325000 172454523 - SH3PXD2B protein_coding This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 285590 GO:0042995, GO:0030054, GO:0005737, GO:0005737, GO:0002102, cell projection, cell junction, cytoplasm, cytoplasm, podosome, GO:0080025, GO:0080025, GO:0070273, GO:0042169, GO:0032266, GO:0032266, GO:0016176, GO:0010314, GO:0010314, GO:0005515, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-4-phosphate binding, SH2 domain binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, superoxide-generating NADPH oxidase activator activity, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-5-phosphate binding, protein binding, GO:1904888, GO:1904179, GO:0072657, GO:0071800, GO:0060612, GO:0060378, GO:0060348, GO:0051496, GO:0048705, GO:0045600, GO:0043085, GO:0040018, GO:0022617, GO:0010628, GO:0007507, GO:0006801, GO:0006801, GO:0002051, GO:0001654, GO:0001501, cranial skeletal system development, positive regulation of adipose tissue development, protein localization to membrane, podosome assembly, adipose tissue development, regulation of brood size, bone development, positive regulation of stress fiber assembly, skeletal system morphogenesis, positive regulation of fat cell differentiation, positive regulation of catalytic activity, positive regulation of multicellular organism growth, extracellular matrix disassembly, positive regulation of gene expression, heart development, superoxide metabolic process, superoxide metabolic process, osteoblast fate commitment, eye development, skeletal system development, 0 0 1 0 0 0 2 1 0 ENSG00000174715 chr3 138643874 138644694 - PPIAP72 processed_pseudogene 9 9 0 15 20 5 9 10 2 ENSG00000174718 chr12 31959370 31993107 + KIAA1551 protein_coding 55196 GO:0005634, GO:0000930, nucleus, gamma-tubulin complex, GO:0042393, GO:0005515, histone binding, protein binding, GO:0090309, GO:0045869, positive regulation of DNA methylation-dependent heterochromatin assembly, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, 20171 15024 24696 8642 13963 11352 11718 10789 10282 ENSG00000174720 chr4 112636964 112657592 + LARP7 protein_coding This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]. 51574 GO:1990904, GO:0120259, GO:0005829, GO:0005654, GO:0005634, ribonucleoprotein complex, 7SK snRNP, cytosol, nucleoplasm, nucleus, GO:0097322, GO:0017070, GO:0005515, GO:0003723, 7SK snRNA binding, U6 snRNA binding, protein binding, RNA binding, GO:1990438, GO:1905382, GO:1904871, GO:0048024, GO:0034244, GO:0032897, GO:0030154, GO:0008380, GO:0007283, GO:0006397, GO:0000494, GO:0000122, U6 2'-O-snRNA methylation, positive regulation of snRNA transcription by RNA polymerase II, positive regulation of protein localization to Cajal body, regulation of mRNA splicing, via spliceosome, negative regulation of transcription elongation from RNA polymerase II promoter, negative regulation of viral transcription, cell differentiation, RNA splicing, spermatogenesis, mRNA processing, box C/D snoRNA 3'-end processing, negative regulation of transcription by RNA polymerase II, 775 654 862 564 662 619 552 462 469 ENSG00000174721 chr10 91906589 91909483 - FGFBP3 protein_coding 143282 GO:0062023, GO:0005576, collagen-containing extracellular matrix, extracellular region, GO:0019838, GO:0017134, GO:0008201, growth factor binding, fibroblast growth factor binding, heparin binding, GO:0045743, GO:0043117, GO:0007267, positive regulation of fibroblast growth factor receptor signaling pathway, positive regulation of vascular permeability, cell-cell signaling, 2 0 1 13 3 4 5 3 9 ENSG00000174738 chr3 23945260 23980618 + NR1D2 protein_coding This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. 9975 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0001227, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001014, GO:0097009, GO:0055088, GO:0050728, GO:0050727, GO:0048512, GO:0045944, GO:0045893, GO:0045892, GO:0042752, GO:0030522, GO:0030154, GO:0019216, GO:0009755, GO:0006367, GO:0006355, GO:0000122, regulation of skeletal muscle cell differentiation, energy homeostasis, lipid homeostasis, negative regulation of inflammatory response, regulation of inflammatory response, circadian behavior, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of circadian rhythm, intracellular receptor signaling pathway, cell differentiation, regulation of lipid metabolic process, hormone-mediated signaling pathway, transcription initiation from RNA polymerase II promoter, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 248 235 543 325 143 305 282 133 276 ENSG00000174740 chrX 91434595 91438584 + PABPC5 protein_coding This gene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This gene is located in a gene-poor region within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homology block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate gene for this disorder. [provided by RefSeq, May 2010]. 140886 GO:1990904, GO:0010494, GO:0005829, GO:0005759, GO:0005634, ribonucleoprotein complex, cytoplasmic stress granule, cytosol, mitochondrial matrix, nucleus, GO:0008266, GO:0008143, GO:0005515, GO:0003730, GO:0003723, poly(U) RNA binding, poly(A) binding, protein binding, mRNA 3'-UTR binding, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000174744 chr11 66337333 66345125 - BRMS1 protein_coding This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 25855 GO:0070822, GO:0005737, GO:0005654, GO:0005634, Sin3-type complex, cytoplasm, nucleoplasm, nucleus, GO:0051059, GO:0042826, GO:0005515, GO:0004407, NF-kappaB binding, histone deacetylase binding, protein binding, histone deacetylase activity, GO:2000210, GO:0090312, GO:0045892, GO:0042981, GO:0032088, GO:0016575, GO:0006915, GO:0000122, positive regulation of anoikis, positive regulation of protein deacetylation, negative regulation of transcription, DNA-templated, regulation of apoptotic process, negative regulation of NF-kappaB transcription factor activity, histone deacetylation, apoptotic process, negative regulation of transcription by RNA polymerase II, 479 366 501 331 424 408 376 427 347 ENSG00000174748 chr3 23916545 23924374 + RPL15 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]. 6138 GO:0022625, GO:0022625, GO:0016020, GO:0005840, GO:0005829, GO:0005634, GO:0005634, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, ribosome, cytosol, nucleus, nucleus, GO:0045296, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, cadherin binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 851 634 1236 2271 1465 2437 1685 1148 1878 ENSG00000174749 chr4 112145397 112195256 + FAM241A protein_coding 132720 GO:0043231, GO:0016021, GO:0005794, intracellular membrane-bounded organelle, integral component of membrane, Golgi apparatus, 75 41 116 106 56 100 70 38 51 ENSG00000174775 chr11 532242 537287 - HRAS protein_coding This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]. 3265 GO:0098978, GO:0098978, GO:0048471, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0000139, glutamatergic synapse, glutamatergic synapse, perinuclear region of cytoplasm, plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, Golgi membrane, GO:0044877, GO:0019003, GO:0019003, GO:0008022, GO:0005525, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, protein-containing complex binding, GDP binding, GDP binding, protein C-terminus binding, GTP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, GO:2000630, GO:2000251, GO:1900029, GO:0098696, GO:0098696, GO:0097193, GO:0090398, GO:0090398, GO:0090314, GO:0090303, GO:0071480, GO:0070374, GO:0050852, GO:0050679, GO:0048169, GO:0048013, GO:0046579, GO:0046330, GO:0045944, GO:0045740, GO:0043547, GO:0043524, GO:0043410, GO:0043406, GO:0042832, GO:0042088, GO:0035900, GO:0034260, GO:0032729, GO:0030335, GO:0010863, GO:0010629, GO:0009887, GO:0008285, GO:0008284, GO:0007265, GO:0007265, GO:0007265, GO:0007166, GO:0007165, GO:0007093, GO:0007050, GO:0007050, GO:0006935, GO:0006897, GO:0002223, GO:0001934, GO:0001889, GO:0000165, positive regulation of miRNA metabolic process, positive regulation of actin cytoskeleton reorganization, positive regulation of ruffle assembly, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, intrinsic apoptotic signaling pathway, cellular senescence, cellular senescence, positive regulation of protein targeting to membrane, positive regulation of wound healing, cellular response to gamma radiation, positive regulation of ERK1 and ERK2 cascade, T cell receptor signaling pathway, positive regulation of epithelial cell proliferation, regulation of long-term neuronal synaptic plasticity, ephrin receptor signaling pathway, positive regulation of Ras protein signal transduction, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of DNA replication, positive regulation of GTPase activity, negative regulation of neuron apoptotic process, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, defense response to protozoan, T-helper 1 type immune response, response to isolation stress, negative regulation of GTPase activity, positive regulation of interferon-gamma production, positive regulation of cell migration, positive regulation of phospholipase C activity, negative regulation of gene expression, animal organ morphogenesis, negative regulation of cell population proliferation, positive regulation of cell population proliferation, Ras protein signal transduction, Ras protein signal transduction, Ras protein signal transduction, cell surface receptor signaling pathway, signal transduction, mitotic cell cycle checkpoint, cell cycle arrest, cell cycle arrest, chemotaxis, endocytosis, stimulatory C-type lectin receptor signaling pathway, positive regulation of protein phosphorylation, liver development, MAPK cascade, 2 0 0 0 4 0 3 0 0 ENSG00000174776 chr3 167478684 167653983 - WDR49 protein_coding This gene encodes a member of the WD repeat protein family with nine WD repeats. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 151790 0 0 0 0 2 3 1 3 3 ENSG00000174780 chr4 56467336 56503681 + SRP72 protein_coding This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]. 6731 GO:0048500, GO:0005829, GO:0005786, GO:0005786, GO:0005783, signal recognition particle, cytosol, signal recognition particle, endoplasmic reticulum targeting, signal recognition particle, endoplasmic reticulum targeting, endoplasmic reticulum, GO:0043022, GO:0043022, GO:0030911, GO:0008312, GO:0008312, GO:0005515, GO:0005047, GO:0003723, ribosome binding, ribosome binding, TPR domain binding, 7S RNA binding, 7S RNA binding, protein binding, signal recognition particle binding, RNA binding, GO:0006614, GO:0006614, SRP-dependent cotranslational protein targeting to membrane, SRP-dependent cotranslational protein targeting to membrane, 218 185 244 304 176 313 259 135 178 ENSG00000174788 chr19 7631611 7633748 - PCP2 protein_coding 126006 GO:0043025, neuronal cell body, GO:0030695, GO:0005515, GO:0005085, GTPase regulator activity, protein binding, guanyl-nucleotide exchange factor activity, GO:0050790, regulation of catalytic activity, 16 10 7 30 18 31 24 8 4 ENSG00000174791 chr11 66330242 66336840 - RIN1 protein_coding 9610 GO:0043025, GO:0030425, GO:0005886, GO:0005856, GO:0005829, GO:0005737, neuronal cell body, dendrite, plasma membrane, cytoskeleton, cytosol, cytoplasm, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:0043547, GO:0031914, GO:0008306, GO:0007613, GO:0007165, GO:0006897, positive regulation of GTPase activity, negative regulation of synaptic plasticity, associative learning, memory, signal transduction, endocytosis, 9 13 11 10 15 26 24 20 21 ENSG00000174792 chr4 75556048 75565885 + ODAPH protein_coding Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]. 152816 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0070175, GO:0070175, GO:0070169, positive regulation of enamel mineralization, positive regulation of enamel mineralization, positive regulation of biomineral tissue development, 0 1 0 3 1 4 2 1 0 ENSG00000174796 chr4 75513946 75550473 + THAP6 protein_coding 152815 GO:0015630, microtubule cytoskeleton, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 250 222 276 162 208 178 166 160 146 ENSG00000174799 chr4 55948871 56033363 + CEP135 protein_coding This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]. 9662 GO:0005829, GO:0005814, GO:0005813, cytosol, centriole, centrosome, GO:0008022, GO:0005515, protein C-terminus binding, protein binding, GO:1904951, GO:1902857, GO:0097711, GO:0010457, GO:0010389, GO:0007099, GO:0000086, positive regulation of establishment of protein localization, positive regulation of non-motile cilium assembly, ciliary basal body-plasma membrane docking, centriole-centriole cohesion, regulation of G2/M transition of mitotic cell cycle, centriole replication, G2/M transition of mitotic cell cycle, 211 217 230 257 243 261 268 148 230 ENSG00000174804 chr11 86945679 86955391 - FZD4 protein_coding This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]. 8322 GO:0098978, GO:0030669, GO:0030665, GO:0030425, GO:0009986, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005615, glutamatergic synapse, clathrin-coated endocytic vesicle membrane, clathrin-coated vesicle membrane, dendrite, cell surface, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0046982, GO:0044877, GO:0042813, GO:0042803, GO:0038023, GO:0031625, GO:0030165, GO:0030165, GO:0019955, GO:0017147, GO:0017147, GO:0005515, GO:0004930, GO:0004896, GO:0001540, protein heterodimerization activity, protein-containing complex binding, Wnt-activated receptor activity, protein homodimerization activity, signaling receptor activity, ubiquitin protein ligase binding, PDZ domain binding, PDZ domain binding, cytokine binding, Wnt-protein binding, Wnt-protein binding, protein binding, G protein-coupled receptor activity, cytokine receptor activity, amyloid-beta binding, GO:1990830, GO:0150012, GO:0110135, GO:0090090, GO:0071300, GO:0061304, GO:0061301, GO:0061299, GO:0061299, GO:0061024, GO:0060071, GO:0060070, GO:0060070, GO:0060070, GO:0051091, GO:0045893, GO:0043507, GO:0042701, GO:0035567, GO:0035567, GO:0035426, GO:0034446, GO:0031987, GO:0030947, GO:0030182, GO:0019221, GO:0016055, GO:0010812, GO:0007605, GO:0007223, GO:0007223, GO:0007186, GO:0001570, cellular response to leukemia inhibitory factor, positive regulation of neuron projection arborization, Norrin signaling pathway, negative regulation of canonical Wnt signaling pathway, cellular response to retinoic acid, retinal blood vessel morphogenesis, cerebellum vasculature morphogenesis, retina vasculature morphogenesis in camera-type eye, retina vasculature morphogenesis in camera-type eye, membrane organization, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription, DNA-templated, positive regulation of JUN kinase activity, progesterone secretion, non-canonical Wnt signaling pathway, non-canonical Wnt signaling pathway, extracellular matrix-cell signaling, substrate adhesion-dependent cell spreading, locomotion involved in locomotory behavior, regulation of vascular endothelial growth factor receptor signaling pathway, neuron differentiation, cytokine-mediated signaling pathway, Wnt signaling pathway, negative regulation of cell-substrate adhesion, sensory perception of sound, Wnt signaling pathway, calcium modulating pathway, Wnt signaling pathway, calcium modulating pathway, G protein-coupled receptor signaling pathway, vasculogenesis, 0 0 0 0 2 4 3 3 8 ENSG00000174807 chr11 66314487 66317044 - CD248 protein_coding 57124 GO:0070062, GO:0031012, GO:0016021, GO:0009897, GO:0005737, extracellular exosome, extracellular matrix, integral component of membrane, external side of plasma membrane, cytoplasm, GO:1990430, GO:0050840, GO:0030246, GO:0005515, GO:0005509, GO:0003674, extracellular matrix protein binding, extracellular matrix binding, carbohydrate binding, protein binding, calcium ion binding, molecular_function, GO:2000353, GO:0060033, GO:0048535, GO:0016477, GO:0008284, GO:0008150, positive regulation of endothelial cell apoptotic process, anatomical structure regression, lymph node development, cell migration, positive regulation of cell population proliferation, biological_process, 4 2 5 6 1 3 15 12 18 ENSG00000174808 chr4 74744759 74794686 - BTC protein_coding This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015]. 685 GO:0030665, GO:0016021, GO:0005886, GO:0005615, GO:0005576, clathrin-coated vesicle membrane, integral component of membrane, plasma membrane, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005154, growth factor activity, protein binding, epidermal growth factor receptor binding, GO:2000145, GO:0061024, GO:0051897, GO:0051781, GO:0048146, GO:0045840, GO:0045741, GO:0045597, GO:0043066, GO:0042059, GO:0038128, GO:0035810, GO:0008284, GO:0007173, GO:0007173, GO:0007165, GO:0000165, regulation of cell motility, membrane organization, positive regulation of protein kinase B signaling, positive regulation of cell division, positive regulation of fibroblast proliferation, positive regulation of mitotic nuclear division, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of cell differentiation, negative regulation of apoptotic process, negative regulation of epidermal growth factor receptor signaling pathway, ERBB2 signaling pathway, positive regulation of urine volume, positive regulation of cell population proliferation, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000174827 chr1 145670852 145708148 - PDZK1 protein_coding This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 5174 GO:0070062, GO:0045121, GO:0031528, GO:0031526, GO:0016324, GO:0005903, GO:0005886, GO:0005886, extracellular exosome, membrane raft, microvillus membrane, brush border membrane, apical plasma membrane, brush border, plasma membrane, plasma membrane, GO:0044877, GO:0043495, GO:0030165, GO:0005515, GO:0005124, protein-containing complex binding, protein-membrane adaptor activity, PDZ domain binding, protein binding, scavenger receptor binding, GO:1990961, GO:1905477, GO:1904064, GO:0090314, GO:0072659, GO:0044070, GO:0032414, GO:0015879, xenobiotic detoxification by transmembrane export across the plasma membrane, positive regulation of protein localization to membrane, positive regulation of cation transmembrane transport, positive regulation of protein targeting to membrane, protein localization to plasma membrane, regulation of anion transport, positive regulation of ion transmembrane transporter activity, carnitine transport, 0 0 1 0 1 1 5 2 0 ENSG00000174837 chr19 6887566 6940459 + ADGRE1 protein_coding This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 2015 GO:0009897, GO:0005887, external side of plasma membrane, integral component of plasma membrane, GO:0005509, GO:0004930, calcium ion binding, G protein-coupled receptor activity, GO:0007189, GO:0007186, GO:0007166, GO:0007155, GO:0002250, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cell adhesion, adaptive immune response, 242 217 512 71 44 70 63 42 44 ENSG00000174839 chr3 57625457 57693089 - DENND6A protein_coding 201627 GO:0055037, GO:0055037, GO:0043231, GO:0005829, GO:0005737, recycling endosome, recycling endosome, intracellular membrane-bounded organelle, cytosol, cytoplasm, GO:0005085, GO:0005085, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000049, positive regulation of cell-cell adhesion mediated by cadherin, 303 339 337 276 492 408 337 337 260 ENSG00000174840 chr3 57556276 57566844 + PDE12 protein_coding 201626 GO:0005829, GO:0005759, GO:0005759, GO:0005739, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, GO:0046872, GO:0034611, GO:0004535, GO:0004527, GO:0004527, GO:0000175, GO:0000175, metal ion binding, oligoribonucleotidase activity, poly(A)-specific ribonuclease activity, exonuclease activity, exonuclease activity, 3'-5'-exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:0090503, GO:0090324, GO:0090305, GO:0071359, GO:0071346, GO:0060548, GO:0051607, GO:0045070, GO:0044528, GO:0035457, GO:0006397, GO:0000958, GO:0000288, GO:0000288, RNA phosphodiester bond hydrolysis, exonucleolytic, negative regulation of oxidative phosphorylation, nucleic acid phosphodiester bond hydrolysis, cellular response to dsRNA, cellular response to interferon-gamma, negative regulation of cell death, defense response to virus, positive regulation of viral genome replication, regulation of mitochondrial mRNA stability, cellular response to interferon-alpha, mRNA processing, mitochondrial mRNA catabolic process, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, 169 132 186 620 550 793 657 503 467 ENSG00000174842 chr1 92246402 92298987 - GLMN protein_coding This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 11146 GO:0031464, GO:0031463, GO:0031462, GO:0031461, GO:0005737, Cul4A-RING E3 ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, Cul2-RING ubiquitin ligase complex, cullin-RING ubiquitin ligase complex, cytoplasm, GO:0055105, GO:0055105, GO:0031625, GO:0005515, GO:0005171, GO:0005171, GO:0005102, ubiquitin-protein transferase inhibitor activity, ubiquitin-protein transferase inhibitor activity, ubiquitin protein ligase binding, protein binding, hepatocyte growth factor receptor binding, hepatocyte growth factor receptor binding, signaling receptor binding, GO:0042692, GO:0042327, GO:0042130, GO:0040029, GO:0032743, GO:0032743, GO:0032434, GO:0031397, GO:0008285, GO:0007166, GO:0001843, GO:0001819, GO:0001570, muscle cell differentiation, positive regulation of phosphorylation, negative regulation of T cell proliferation, regulation of gene expression, epigenetic, positive regulation of interleukin-2 production, positive regulation of interleukin-2 production, regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, negative regulation of cell population proliferation, cell surface receptor signaling pathway, neural tube closure, positive regulation of cytokine production, vasculogenesis, 16 19 15 46 12 24 21 7 15 ENSG00000174844 chr3 57293699 57544344 - DNAH12 protein_coding 201625 GO:0030286, GO:0005929, GO:0005874, GO:0005737, dynein complex, cilium, microtubule, cytoplasm, GO:0008569, GO:0005524, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, GO:0007018, microtubule-based movement, 1 4 1 1 0 6 1 0 2 ENSG00000174851 chr11 66284580 66289170 - YIF1A protein_coding 10897 GO:0033116, GO:0030173, GO:0030134, GO:0005793, GO:0005793, GO:0005789, GO:0005789, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of Golgi membrane, COPII-coated ER to Golgi transport vesicle, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0036498, GO:0015031, GO:0006888, IRE1-mediated unfolded protein response, protein transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 33 21 37 28 42 49 24 26 28 ENSG00000174871 chr11 66278190 66285301 + CNIH2 protein_coding The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Type I AMPA receptor regulatory protein isoform gamma-8 to control assembly of hippocampal AMPA receptor complexes, thereby modulating receptor gating and pharmacology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 254263 GO:0099061, GO:0098978, GO:0045211, GO:0045202, GO:0043198, GO:0043197, GO:0033116, GO:0032281, GO:0030425, GO:0030425, GO:0014069, GO:0012507, GO:0005789, GO:0000139, integral component of postsynaptic density membrane, glutamatergic synapse, postsynaptic membrane, synapse, dendritic shaft, dendritic spine, endoplasmic reticulum-Golgi intermediate compartment membrane, AMPA glutamate receptor complex, dendrite, dendrite, postsynaptic density, ER to Golgi transport vesicle membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, protein binding, GO:2000311, GO:2000311, GO:2000310, GO:1903743, GO:1902684, GO:0098962, GO:0051668, GO:0048208, GO:0042391, GO:0035249, GO:0006888, regulation of AMPA receptor activity, regulation of AMPA receptor activity, regulation of NMDA receptor activity, negative regulation of anterograde synaptic vesicle transport, negative regulation of receptor localization to synapse, regulation of postsynaptic neurotransmitter receptor activity, localization within membrane, COPII vesicle coating, regulation of membrane potential, synaptic transmission, glutamatergic, endoplasmic reticulum to Golgi vesicle-mediated transport, 13 27 29 26 41 26 27 21 71 ENSG00000174876 chr1 103687415 103696680 - AMY1B protein_coding Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008]. 277 GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, GO:0103025, GO:0046872, GO:0031404, GO:0005515, GO:0005509, GO:0004556, GO:0004556, alpha-amylase activity (releasing maltohexaose), metal ion binding, chloride ion binding, protein binding, calcium ion binding, alpha-amylase activity, alpha-amylase activity, GO:0009311, GO:0005975, oligosaccharide metabolic process, carbohydrate metabolic process, 1 0 1 2 2 0 0 0 1 ENSG00000174885 chr11 278365 285359 + NLRP6 protein_coding The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]. 171389 GO:0061702, GO:0031965, GO:0005886, inflammasome complex, nuclear membrane, plasma membrane, GO:0005524, GO:0005000, ATP binding, vasopressin receptor activity, GO:0070373, GO:0070255, GO:0050727, GO:0045087, GO:0043124, GO:0042060, GO:0034122, GO:0010506, GO:0009617, GO:0007186, GO:0006954, GO:0002862, negative regulation of ERK1 and ERK2 cascade, regulation of mucus secretion, regulation of inflammatory response, innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, wound healing, negative regulation of toll-like receptor signaling pathway, regulation of autophagy, response to bacterium, G protein-coupled receptor signaling pathway, inflammatory response, negative regulation of inflammatory response to antigenic stimulus, 697 816 714 418 763 564 459 623 557 ENSG00000174886 chr19 5891276 5904006 - NDUFA11 protein_coding This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]. 126328 GO:0016021, GO:0005747, GO:0005747, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0032981, GO:0032981, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, 26 31 29 34 28 51 19 22 44 ENSG00000174891 chr3 158105855 158545730 + RSRC1 protein_coding This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]. 51319 GO:0016607, GO:0005737, GO:0005737, GO:0005634, GO:0005634, nuclear speck, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0046677, GO:0008380, GO:0006913, GO:0006468, GO:0000398, GO:0000380, response to antibiotic, RNA splicing, nucleocytoplasmic transport, protein phosphorylation, mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 68 38 64 41 34 66 54 49 39 ENSG00000174898 chr19 5720677 5778734 + CATSPERD protein_coding 257062 GO:0097228, GO:0036128, GO:0005886, sperm principal piece, CatSper complex, plasma membrane, GO:0005515, protein binding, GO:0048240, GO:0035036, GO:0032570, GO:0030317, GO:0007283, GO:0007275, sperm capacitation, sperm-egg recognition, response to progesterone, flagellated sperm motility, spermatogenesis, multicellular organism development, 0 0 0 0 1 2 4 0 0 ENSG00000174899 chr3 157543246 157677749 + PQLC2L protein_coding 152078 GO:0016021, GO:0005765, integral component of membrane, lysosomal membrane, GO:0015189, GO:0015181, GO:0015174, L-lysine transmembrane transporter activity, arginine transmembrane transporter activity, basic amino acid transmembrane transporter activity, GO:1903826, GO:1903401, arginine transmembrane transport, L-lysine transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000174903 chr11 66268533 66277492 + RAB1B protein_coding Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009]. 81876 GO:0070062, GO:0048471, GO:0034045, GO:0033116, GO:0030133, GO:0012505, GO:0005829, GO:0005794, GO:0005789, GO:0000139, extracellular exosome, perinuclear region of cytoplasm, phagophore assembly site membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, transport vesicle, endomembrane system, cytosol, Golgi apparatus, endoplasmic reticulum membrane, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:2000785, GO:1903020, GO:0090557, GO:0048208, GO:0043687, GO:0019068, GO:0019068, GO:0006890, GO:0006888, GO:0006888, GO:0006886, GO:0000045, regulation of autophagosome assembly, positive regulation of glycoprotein metabolic process, establishment of endothelial intestinal barrier, COPII vesicle coating, post-translational protein modification, virion assembly, virion assembly, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, autophagosome assembly, 2468 2710 2837 817 1673 1034 1108 1484 985 ENSG00000174912 chr3 156713884 156714928 - METTL15P1 processed_pseudogene 1 2 3 1 7 0 2 2 1 ENSG00000174914 chr11 56699095 56703884 + OR9G1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390174 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000174915 chr11 448268 491399 + PTDSS2 protein_coding The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]. 81490 GO:0016021, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0106245, GO:0016740, L-serine-phosphatidylethanolamine phosphatidyltransferase activity, transferase activity, GO:0006659, GO:0006659, GO:0006659, phosphatidylserine biosynthetic process, phosphatidylserine biosynthetic process, phosphatidylserine biosynthetic process, 6 6 5 14 5 1 11 2 19 ENSG00000174917 chr19 5678421 5680896 - C19orf70 protein_coding 125988 GO:0140275, GO:0061617, GO:0061617, GO:0061617, GO:0044284, GO:0044284, GO:0005743, GO:0005739, GO:0005654, GO:0001401, MIB complex, MICOS complex, MICOS complex, MICOS complex, mitochondrial crista junction, mitochondrial crista junction, mitochondrial inner membrane, mitochondrion, nucleoplasm, SAM complex, GO:0005515, protein binding, GO:0042407, GO:0042407, GO:0007007, cristae formation, cristae formation, inner mitochondrial membrane organization, 25 11 29 38 39 41 45 16 23 ENSG00000174928 chr3 155762617 155806351 - C3orf33 protein_coding 285315 GO:0016021, GO:0005615, GO:0005615, integral component of membrane, extracellular space, extracellular space, GO:0005515, protein binding, GO:0070373, GO:0051090, negative regulation of ERK1 and ERK2 cascade, regulation of DNA-binding transcription factor activity, 0 0 0 0 0 2 0 0 0 ENSG00000174930 chr3 156019646 156037647 + VN2R1P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000174937 chr11 56469274 56473352 - OR5M3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219482 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000174938 chr16 29871159 29899547 - SEZ6L2 protein_coding This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 26470 GO:0016021, GO:0005886, GO:0005789, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, 0 0 0 0 0 0 6 2 0 ENSG00000174939 chr16 29900375 29919864 + ASPHD1 protein_coding 253982 GO:0016021, integral component of membrane, GO:0051213, dioxygenase activity, GO:0055114, GO:0018193, oxidation-reduction process, peptidyl-amino acid modification, 8 5 12 2 19 20 9 12 10 ENSG00000174943 chr16 29905012 29927035 - KCTD13 protein_coding 253980 GO:0031463, GO:0031463, GO:0016604, GO:0005654, Cul3-RING ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, nuclear body, nucleoplasm, GO:0042802, GO:0031267, GO:0031267, GO:0019904, GO:0005515, GO:0004842, GO:0004842, identical protein binding, small GTPase binding, small GTPase binding, protein domain specific binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0061351, GO:0051260, GO:0050806, GO:0045740, GO:0043161, GO:0043161, GO:0043149, GO:0035024, GO:0035024, GO:0035024, GO:0016567, GO:0016567, GO:0016567, GO:0016477, GO:0006260, neural precursor cell proliferation, protein homooligomerization, positive regulation of synaptic transmission, positive regulation of DNA replication, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, stress fiber assembly, negative regulation of Rho protein signal transduction, negative regulation of Rho protein signal transduction, negative regulation of Rho protein signal transduction, protein ubiquitination, protein ubiquitination, protein ubiquitination, cell migration, DNA replication, 212 222 273 261 367 377 273 241 274 ENSG00000174944 chr3 151212117 151278467 - P2RY14 protein_coding The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 9934 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0045029, GO:0045028, G protein-coupled UDP receptor activity, G protein-coupled purinergic nucleotide receptor activity, GO:0035589, GO:0007186, GO:0007186, GO:0007186, G protein-coupled purinergic nucleotide receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 123 111 170 48 65 55 64 81 54 ENSG00000174945 chr7 2679522 2775500 + AMZ1 protein_coding 155185 GO:0005575, cellular_component, GO:0046872, GO:0008237, metal ion binding, metallopeptidase activity, GO:0006508, proteolysis, 0 0 0 1 0 0 0 1 2 ENSG00000174946 chr3 151197832 151203201 - GPR171 protein_coding 29909 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0045028, GO:0004930, G protein-coupled purinergic nucleotide receptor activity, G protein-coupled receptor activity, GO:0045638, GO:0035589, GO:0007186, GO:0007186, negative regulation of myeloid cell differentiation, G protein-coupled purinergic nucleotide receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 84 46 141 79 23 111 53 12 66 ENSG00000174948 chr3 154337672 154429715 - GPR149 protein_coding This gene encodes a seven-transmembrane G protein coupled receptor (GPCR) class A family member. Although categorized as a class A GPCR, the encoded protein lacks the first two charged amino acids of the highly conserved Asp-Arg-Tyr (DRY) motif found in the third transmembrane helix of class A receptors which is important for efficient G protein-coupled signal transduction. Mice with a knockout of the orthologous gene are viable and have normal maturation of the ovarian follicle, but show enhanced fertility and ovulation. All GPCRs have a common structural architecture consisting of seven transmembrane alpha-helices interconnected by three extracellular and three intracellular loops. A general feature of GPCR signaling is agonist-induced conformational changes in the receptor, leading to activation of the heterotrimeric G proteins, which consist of the guanine nucleotide-binding G-alpha subunit and the dimeric G-beta-gamma subunits. The activated G proteins then bind to and activate numerous downstream effector proteins, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]. 344758 GO:0043005, GO:0005887, neuron projection, integral component of plasma membrane, GO:0042923, GO:0042277, GO:0004930, neuropeptide binding, peptide binding, G protein-coupled receptor activity, GO:0060280, GO:0007218, GO:0001547, GO:0001546, negative regulation of ovulation, neuropeptide signaling pathway, antral ovarian follicle growth, preantral ovarian follicle growth, 0 0 0 0 0 0 0 0 0 ENSG00000174950 chr1 27379176 27383380 - CD164L2 protein_coding 388611 GO:0031410, GO:0016021, cytoplasmic vesicle, integral component of membrane, 0 0 1 0 1 2 0 1 0 ENSG00000174951 chr19 48748011 48755390 - FUT1 protein_coding This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]. 2523 GO:0032580, GO:0016020, GO:0005887, GO:0005794, Golgi cisterna membrane, membrane, integral component of plasma membrane, Golgi apparatus, GO:0031127, GO:0008417, GO:0008107, GO:0008107, alpha-(1,2)-fucosyltransferase activity, fucosyltransferase activity, galactoside 2-alpha-L-fucosyltransferase activity, galactoside 2-alpha-L-fucosyltransferase activity, GO:1904906, GO:1903672, GO:0042355, GO:0036065, GO:0036065, GO:0030155, GO:0021772, GO:0010595, GO:0006486, GO:0006486, GO:0006486, GO:0006486, GO:0005975, GO:0001954, GO:0001936, positive regulation of endothelial cell-matrix adhesion via fibronectin, positive regulation of sprouting angiogenesis, L-fucose catabolic process, fucosylation, fucosylation, regulation of cell adhesion, olfactory bulb development, positive regulation of endothelial cell migration, protein glycosylation, protein glycosylation, protein glycosylation, protein glycosylation, carbohydrate metabolic process, positive regulation of cell-matrix adhesion, regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000174953 chr3 154272546 154324497 - DHX36 protein_coding This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 170506 GO:0070062, GO:0043204, GO:0030425, GO:0030424, GO:0016607, GO:0010494, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005622, GO:0000781, extracellular exosome, perikaryon, dendrite, axon, nuclear speck, cytoplasmic stress granule, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, intracellular anatomical structure, chromosome, telomeric region, GO:0070883, GO:0070034, GO:0051880, GO:0048027, GO:0042826, GO:0035925, GO:0008094, GO:0005524, GO:0005515, GO:0003730, GO:0003725, GO:0003724, GO:0003723, GO:0003723, GO:0003723, GO:0003697, GO:0003678, GO:0003678, GO:0002151, GO:0002151, GO:0002151, GO:0000978, GO:0000976, GO:0000287, pre-miRNA binding, telomerase RNA binding, G-quadruplex DNA binding, mRNA 5'-UTR binding, histone deacetylase binding, mRNA 3'-UTR AU-rich region binding, DNA-dependent ATPase activity, ATP binding, protein binding, mRNA 3'-UTR binding, double-stranded RNA binding, RNA helicase activity, RNA binding, RNA binding, RNA binding, single-stranded DNA binding, DNA helicase activity, DNA helicase activity, G-quadruplex RNA binding, G-quadruplex RNA binding, G-quadruplex RNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, magnesium ion binding, GO:2000767, GO:1904582, GO:1904358, GO:1903843, GO:1902064, GO:1901534, GO:1900153, GO:0090669, GO:0061158, GO:0061003, GO:0060261, GO:0051891, GO:0051607, GO:0045995, GO:0045944, GO:0045087, GO:0044806, GO:0043488, GO:0043330, GO:0043123, GO:0034644, GO:0034605, GO:0032727, GO:0032508, GO:0032481, GO:0032206, GO:0031442, GO:0017148, GO:0010628, GO:0010501, GO:0007283, GO:0006359, GO:0002735, GO:0001503, positive regulation of cytoplasmic translation, positive regulation of intracellular mRNA localization, positive regulation of telomere maintenance via telomere lengthening, cellular response to arsenite ion, regulation of transcription from RNA polymerase II promoter involved in spermatogenesis, positive regulation of hematopoietic progenitor cell differentiation, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, telomerase RNA stabilization, 3'-UTR-mediated mRNA destabilization, positive regulation of dendritic spine morphogenesis, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of cardioblast differentiation, defense response to virus, regulation of embryonic development, positive regulation of transcription by RNA polymerase II, innate immune response, G-quadruplex DNA unwinding, regulation of mRNA stability, response to exogenous dsRNA, positive regulation of I-kappaB kinase/NF-kappaB signaling, cellular response to UV, cellular response to heat, positive regulation of interferon-alpha production, DNA duplex unwinding, positive regulation of type I interferon production, positive regulation of telomere maintenance, positive regulation of mRNA 3'-end processing, negative regulation of translation, positive regulation of gene expression, RNA secondary structure unwinding, spermatogenesis, regulation of transcription by RNA polymerase III, positive regulation of myeloid dendritic cell cytokine production, ossification, 253 202 442 274 139 259 211 119 191 ENSG00000174957 chr11 56176618 56177556 + OR5J2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 282775 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000174963 chr3 147386046 147406860 - ZIC4 protein_coding This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]. 84107 GO:0005634, GO:0005634, nucleus, nucleus, GO:1990837, GO:0046872, GO:0003677, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007417, GO:0006357, central nervous system development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000174970 chr11 55965755 55969945 - OR10AG1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 282770 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000174977 chr17 18650195 18651542 + AC026271.1 processed_pseudogene 6 1 6 1 3 7 5 1 8 ENSG00000174982 chr11 55648327 55652854 + OR4S2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219431 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000174989 chr12 116910956 117031148 + FBXW8 protein_coding This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 26259 GO:1990393, GO:0048471, GO:0031467, GO:0019005, GO:0005829, GO:0005829, GO:0005794, 3M complex, perinuclear region of cytoplasm, Cul7-RING ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytosol, Golgi apparatus, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:1901485, GO:0060716, GO:0050775, GO:0050775, GO:0043687, GO:0016567, GO:0008283, GO:0007030, GO:0007030, GO:0000209, positive regulation of transcription factor catabolic process, labyrinthine layer blood vessel development, positive regulation of dendrite morphogenesis, positive regulation of dendrite morphogenesis, post-translational protein modification, protein ubiquitination, cell population proliferation, Golgi organization, Golgi organization, protein polyubiquitination, 10 91 35 18 100 19 12 69 29 ENSG00000174990 chr16 87881546 87936580 - CA5A protein_coding Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]. 763 GO:0005759, GO:0005739, GO:0005737, mitochondrial matrix, mitochondrion, cytoplasm, GO:0016836, GO:0008270, GO:0004089, hydro-lyase activity, zinc ion binding, carbonate dehydratase activity, GO:0015701, GO:0006730, bicarbonate transport, one-carbon metabolic process, 0 0 0 0 1 0 0 1 0 ENSG00000174992 chr16 29778240 29782973 + ZG16 protein_coding 653808 GO:0070701, GO:0062023, GO:0060205, GO:0042589, GO:0005796, GO:0005615, mucus layer, collagen-containing extracellular matrix, cytoplasmic vesicle lumen, zymogen granule membrane, Golgi lumen, extracellular space, GO:0042834, GO:0030246, GO:0005515, peptidoglycan binding, carbohydrate binding, protein binding, GO:0052373, GO:0050830, GO:0032640, GO:0032635, GO:0032633, GO:0032609, GO:0015031, suppression of symbiont entry into host by host, defense response to Gram-positive bacterium, tumor necrosis factor production, interleukin-6 production, interleukin-4 production, interferon-gamma production, protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000174996 chr11 66257294 66267860 + KLC2 protein_coding The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]. 64837 GO:0032991, GO:0016938, GO:0016020, GO:0005886, GO:0005874, GO:0005871, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005654, protein-containing complex, kinesin I complex, membrane, plasma membrane, microtubule, kinesin complex, cytosol, cytosol, cytosol, mitochondrion, nucleoplasm, GO:0045296, GO:0019894, GO:0005515, cadherin binding, kinesin binding, protein binding, GO:0019886, GO:0007018, GO:0006890, antigen processing and presentation of exogenous peptide antigen via MHC class II, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 20 30 25 65 39 100 76 27 75 ENSG00000175003 chr6 160121789 160158718 + SLC22A1 protein_coding Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]. 6580 GO:0098793, GO:0016324, GO:0016323, GO:0016020, GO:0005887, GO:0005886, presynapse, apical plasma membrane, basolateral plasma membrane, membrane, integral component of plasma membrane, plasma membrane, GO:0042910, GO:0042802, GO:0019534, GO:0019534, GO:0015651, GO:0015101, GO:0015101, GO:0015101, GO:0008513, GO:0008504, GO:0005515, GO:0005334, GO:0005330, GO:0005326, GO:0005277, xenobiotic transmembrane transporter activity, identical protein binding, toxin transmembrane transporter activity, toxin transmembrane transporter activity, quaternary ammonium group transmembrane transporter activity, organic cation transmembrane transporter activity, organic cation transmembrane transporter activity, organic cation transmembrane transporter activity, secondary active organic cation transmembrane transporter activity, monoamine transmembrane transporter activity, protein binding, norepinephrine:sodium symporter activity, dopamine:sodium symporter activity, neurotransmitter transmembrane transporter activity, acetylcholine transmembrane transporter activity, GO:1990962, GO:1901998, GO:1901998, GO:1901374, GO:0150104, GO:0098655, GO:0090494, GO:0051620, GO:0051610, GO:0048241, GO:0042908, GO:0042908, GO:0015874, GO:0015697, GO:0015695, GO:0015695, GO:0015695, GO:0010248, GO:0006855, GO:0006836, xenobiotic transport across blood-brain barrier, toxin transport, toxin transport, acetate ester transport, transport across blood-brain barrier, cation transmembrane transport, dopamine uptake, norepinephrine uptake, serotonin uptake, epinephrine transport, xenobiotic transport, xenobiotic transport, norepinephrine transport, quaternary ammonium group transport, organic cation transport, organic cation transport, organic cation transport, establishment or maintenance of transmembrane electrochemical gradient, drug transmembrane transport, neurotransmitter transport, 55 60 149 41 94 183 54 46 152 ENSG00000175018 chr10 125576522 125683144 - TEX36 protein_coding 387718 0 0 0 0 0 0 0 0 0 ENSG00000175029 chr10 124984317 125161170 - CTBP2 protein_coding This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]. 1488 GO:0099523, GO:0098982, GO:0098978, GO:0098831, GO:0098684, GO:0017053, GO:0005634, GO:0005634, presynaptic cytosol, GABA-ergic synapse, glutamatergic synapse, presynaptic active zone cytoplasmic component, photoreceptor ribbon synapse, transcription repressor complex, nucleus, nucleus, GO:0051287, GO:0044877, GO:0042974, GO:0019901, GO:0016616, GO:0005515, GO:0003714, GO:0003713, GO:0003682, GO:0001226, NAD binding, protein-containing complex binding, retinoic acid receptor binding, protein kinase binding, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, transcription corepressor activity, transcription coactivator activity, chromatin binding, RNA polymerase II transcription corepressor binding, GO:1990830, GO:0055114, GO:0050872, GO:0048386, GO:0045944, GO:0045892, GO:0035563, GO:0019079, GO:0016081, GO:0008285, GO:0000122, cellular response to leukemia inhibitory factor, oxidation-reduction process, white fat cell differentiation, positive regulation of retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of chromatin binding, viral genome replication, synaptic vesicle docking, negative regulation of cell population proliferation, negative regulation of transcription by RNA polymerase II, 1450 1357 1693 1127 1474 1472 986 1081 940 ENSG00000175040 chr3 143119331 143124014 + CHST2 protein_coding This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011]. 9435 GO:0031228, GO:0016021, GO:0005829, GO:0005802, GO:0005802, GO:0005794, GO:0005654, GO:0000139, intrinsic component of Golgi membrane, integral component of membrane, cytosol, trans-Golgi network, trans-Golgi network, Golgi apparatus, nucleoplasm, Golgi membrane, GO:0008146, GO:0001517, GO:0001517, sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, GO:0018146, GO:0007275, GO:0006954, GO:0006790, GO:0006790, GO:0006044, GO:0006044, GO:0005975, keratan sulfate biosynthetic process, multicellular organism development, inflammatory response, sulfur compound metabolic process, sulfur compound metabolic process, N-acetylglucosamine metabolic process, N-acetylglucosamine metabolic process, carbohydrate metabolic process, 106 75 73 62 66 22 57 43 15 ENSG00000175048 chr6 157381133 157678146 + ZDHHC14 protein_coding 79683 GO:0032580, GO:0016021, GO:0005794, GO:0005789, GO:0005783, GO:0005783, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0019706, GO:0019706, GO:0016409, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, GO:0018345, GO:0018230, GO:0018230, GO:0006612, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 4 8 11 13 4 13 10 3 5 ENSG00000175054 chr3 142449235 142578826 - ATR protein_coding The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]. 545 GO:0016605, GO:0005794, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0000781, PML body, Golgi apparatus, chromosome, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0106311, GO:0106310, GO:0032407, GO:0032405, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0003677, protein threonine kinase activity, protein serine kinase activity, MutSalpha complex binding, MutLalpha complex binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, DNA binding, GO:1904884, GO:1901796, GO:1900034, GO:0097695, GO:0097694, GO:0090399, GO:0071480, GO:0070198, GO:0046777, GO:0043517, GO:0042493, GO:0036297, GO:0034644, GO:0032212, GO:0031297, GO:0018105, GO:0008156, GO:0007275, GO:0006974, GO:0006974, GO:0006281, GO:0006260, GO:0000723, GO:0000077, GO:0000077, positive regulation of telomerase catalytic core complex assembly, regulation of signal transduction by p53 class mediator, regulation of cellular response to heat, establishment of protein-containing complex localization to telomere, establishment of RNA localization to telomere, replicative senescence, cellular response to gamma radiation, protein localization to chromosome, telomeric region, protein autophosphorylation, positive regulation of DNA damage response, signal transduction by p53 class mediator, response to drug, interstrand cross-link repair, cellular response to UV, positive regulation of telomere maintenance via telomerase, replication fork processing, peptidyl-serine phosphorylation, negative regulation of DNA replication, multicellular organism development, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, DNA repair, DNA replication, telomere maintenance, DNA damage checkpoint, DNA damage checkpoint, 120 89 214 161 93 236 199 80 185 ENSG00000175061 chr17 16438822 16478678 + LRRC75A-AS1 processed_transcript 125144 GO:0005730, nucleolus, GO:0006396, RNA processing, 151 149 248 395 203 434 230 143 326 ENSG00000175063 chr20 45812576 45816957 + UBE2C protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]. 11065 GO:0005886, GO:0005829, GO:0005829, GO:0005680, GO:0005654, GO:0005634, GO:0000151, plasma membrane, cytosol, cytosol, anaphase-promoting complex, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0061631, GO:0061631, GO:0044389, GO:0005524, GO:0005515, GO:0004842, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin-like protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:1904668, GO:1901990, GO:0070979, GO:0070936, GO:0051301, GO:0031536, GO:0031145, GO:0031145, GO:0031145, GO:0030071, GO:0016567, GO:0016567, GO:0010994, GO:0010458, GO:0006511, GO:0006511, GO:0000209, positive regulation of ubiquitin protein ligase activity, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, protein K48-linked ubiquitination, cell division, positive regulation of exit from mitosis, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, regulation of mitotic metaphase/anaphase transition, protein ubiquitination, protein ubiquitination, free ubiquitin chain polymerization, exit from mitosis, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 26 13 24 26 66 42 23 26 66 ENSG00000175065 chr18 31376777 31414912 + DSG4 protein_coding This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]. 147409 GO:0030057, GO:0016021, GO:0005911, GO:0005886, GO:0001533, desmosome, integral component of membrane, cell-cell junction, plasma membrane, cornified envelope, GO:0005509, calcium ion binding, GO:0098609, GO:0070268, GO:0031424, GO:0030509, GO:0007156, GO:0001942, cell-cell adhesion, cornification, keratinization, BMP signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, hair follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000175066 chr3 142157527 142225607 - GK5 protein_coding 256356 GO:0005739, mitochondrion, GO:0016773, GO:0005524, GO:0004370, phosphotransferase activity, alcohol group as acceptor, ATP binding, glycerol kinase activity, GO:0046167, GO:0019563, GO:0016310, GO:0006641, GO:0006071, glycerol-3-phosphate biosynthetic process, glycerol catabolic process, phosphorylation, triglyceride metabolic process, glycerol metabolic process, 65 87 161 110 37 155 104 32 80 ENSG00000175073 chr8 66628487 66667217 - VCPIP1 protein_coding 80124 GO:0005795, GO:0005788, GO:0005737, GO:0005634, Golgi stack, endoplasmic reticulum lumen, cytoplasm, nucleus, GO:0008234, GO:0004843, GO:0004843, GO:0004843, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1905634, GO:0106300, GO:0090168, GO:0071108, GO:0071108, GO:0035871, GO:0035871, GO:0016579, GO:0016567, GO:0016320, GO:0006974, GO:0000278, regulation of protein localization to chromatin, protein-DNA covalent cross-linking repair, Golgi reassembly, protein K48-linked deubiquitination, protein K48-linked deubiquitination, protein K11-linked deubiquitination, protein K11-linked deubiquitination, protein deubiquitination, protein ubiquitination, endoplasmic reticulum membrane fusion, cellular response to DNA damage stimulus, mitotic cell cycle, 1434 1308 1453 647 1001 1031 734 851 876 ENSG00000175077 chr3 187197486 187201465 + RTP1 protein_coding 132112 GO:0016021, GO:0009986, GO:0009986, GO:0005886, integral component of membrane, cell surface, cell surface, plasma membrane, GO:0031849, GO:0031849, olfactory receptor binding, olfactory receptor binding, GO:0051205, GO:0051205, GO:0006612, GO:0001580, protein insertion into membrane, protein insertion into membrane, protein targeting to membrane, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000175084 chr2 219418377 219426739 + DES protein_coding This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]. 1674 GO:0097512, GO:0070062, GO:0045111, GO:0042383, GO:0031594, GO:0030018, GO:0014704, GO:0005916, GO:0005882, GO:0005829, GO:0005634, cardiac myofibril, extracellular exosome, intermediate filament cytoskeleton, sarcolemma, neuromuscular junction, Z disc, intercalated disc, fascia adherens, intermediate filament, cytosol, nucleus, GO:0042802, GO:0008092, GO:0005515, GO:0005200, identical protein binding, cytoskeletal protein binding, protein binding, structural constituent of cytoskeleton, GO:0045109, GO:0030049, GO:0008016, GO:0007010, GO:0006936, intermediate filament organization, muscle filament sliding, regulation of heart contraction, cytoskeleton organization, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000175087 chr1 26111165 26125543 + PDIK1L protein_coding 149420 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0051321, GO:0006468, meiotic cell cycle, protein phosphorylation, 13 6 32 10 4 33 7 1 16 ENSG00000175093 chr3 141051402 141148611 + SPSB4 protein_coding 92369 GO:0019005, GO:0005829, GO:0005829, SCF ubiquitin ligase complex, cytosol, cytosol, GO:1990756, GO:0005515, ubiquitin ligase-substrate adaptor activity, protein binding, GO:1902916, GO:0048511, GO:0043687, GO:0043161, GO:0042752, GO:0035556, GO:0016567, GO:0016567, GO:0006511, GO:0006511, positive regulation of protein polyubiquitination, rhythmic process, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of circadian rhythm, intracellular signal transduction, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000175097 chr11 36575574 36598279 - RAG2 protein_coding This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]. 5897 GO:0097519, GO:0005654, DNA recombinase complex, nucleoplasm, GO:0080025, GO:0061630, GO:0043565, GO:0043325, GO:0035091, GO:0035064, GO:0008270, GO:0005547, GO:0005546, GO:0003682, phosphatidylinositol-3,5-bisphosphate binding, ubiquitin protein ligase activity, sequence-specific DNA binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol binding, methylated histone binding, zinc ion binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, chromatin binding, GO:0046622, GO:0042742, GO:0033151, GO:0033151, GO:0033077, GO:0030183, GO:0016567, GO:0006325, GO:0002360, GO:0002358, GO:0002331, GO:0002326, positive regulation of organ growth, defense response to bacterium, V(D)J recombination, V(D)J recombination, T cell differentiation in thymus, B cell differentiation, protein ubiquitination, chromatin organization, T cell lineage commitment, B cell homeostatic proliferation, pre-B cell allelic exclusion, B cell lineage commitment, 0 0 1 0 1 5 0 0 2 ENSG00000175104 chr11 36487027 36510272 - TRAF6 protein_coding The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from, members of the TNF receptor superfamily. This protein mediates signaling from members of the TNF receptor superfamily as well as the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. This protein also interacts with the transforming growth factor (TGF) beta receptor complex and is required for Smad-independent activation of the JNK and p38 kinases. This protein has an amino terminal RING domain which is followed by four zinc-finger motifs, a central coiled-coil region and a highly conserved carboxyl terminal domain, known as the TRAF-C domain. Two alternatively spliced transcript variants, encoding an identical protein, have been reported. [provided by RefSeq, Feb 2012]. 7189 GO:0098802, GO:0048471, GO:0035631, GO:0032991, GO:0010008, GO:0009898, GO:0005938, GO:0005886, GO:0005886, GO:0005829, GO:0005811, GO:0005737, GO:0005634, plasma membrane signaling receptor complex, perinuclear region of cytoplasm, CD40 receptor complex, protein-containing complex, endosome membrane, cytoplasmic side of plasma membrane, cell cortex, plasma membrane, plasma membrane, cytosol, lipid droplet, cytoplasm, nucleus, GO:0061630, GO:0047485, GO:0043422, GO:0042826, GO:0042802, GO:0031996, GO:0031625, GO:0031624, GO:0031435, GO:0019901, GO:0008270, GO:0005515, GO:0005164, GO:0005164, GO:0004842, GO:0004842, GO:0004842, ubiquitin protein ligase activity, protein N-terminus binding, protein kinase B binding, histone deacetylase binding, identical protein binding, thioesterase binding, ubiquitin protein ligase binding, ubiquitin conjugating enzyme binding, mitogen-activated protein kinase kinase kinase binding, protein kinase binding, zinc ion binding, protein binding, tumor necrosis factor receptor binding, tumor necrosis factor receptor binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2000679, GO:1904996, GO:1901224, GO:0071345, GO:0071222, GO:0070555, GO:0070534, GO:0070534, GO:0070534, GO:0070498, GO:0070498, GO:0070423, GO:0051865, GO:0051865, GO:0051092, GO:0051092, GO:0051092, GO:0051091, GO:0050852, GO:0050852, GO:0048661, GO:0048468, GO:0046330, GO:0045944, GO:0045944, GO:0045892, GO:0045672, GO:0045453, GO:0043507, GO:0043507, GO:0043123, GO:0043123, GO:0043122, GO:0043066, GO:0043065, GO:0043011, GO:0042475, GO:0042102, GO:0042088, GO:0038095, GO:0034162, GO:0033209, GO:0032755, GO:0032743, GO:0032735, GO:0032147, GO:0031666, GO:0031398, GO:0031293, GO:0030316, GO:0019886, GO:0016579, GO:0007254, GO:0007250, GO:0007249, GO:0006974, GO:0002755, GO:0002726, GO:0002637, GO:0002224, GO:0002223, GO:0001843, GO:0001503, GO:0000209, GO:0000187, GO:0000122, positive regulation of transcription regulatory region DNA binding, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of NIK/NF-kappaB signaling, cellular response to cytokine stimulus, cellular response to lipopolysaccharide, response to interleukin-1, protein K63-linked ubiquitination, protein K63-linked ubiquitination, protein K63-linked ubiquitination, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, protein autoubiquitination, protein autoubiquitination, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, T cell receptor signaling pathway, T cell receptor signaling pathway, positive regulation of smooth muscle cell proliferation, cell development, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of osteoclast differentiation, bone resorption, positive regulation of JUN kinase activity, positive regulation of JUN kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of apoptotic process, myeloid dendritic cell differentiation, odontogenesis of dentin-containing tooth, positive regulation of T cell proliferation, T-helper 1 type immune response, Fc-epsilon receptor signaling pathway, toll-like receptor 9 signaling pathway, tumor necrosis factor-mediated signaling pathway, positive regulation of interleukin-6 production, positive regulation of interleukin-2 production, positive regulation of interleukin-12 production, activation of protein kinase activity, positive regulation of lipopolysaccharide-mediated signaling pathway, positive regulation of protein ubiquitination, membrane protein intracellular domain proteolysis, osteoclast differentiation, antigen processing and presentation of exogenous peptide antigen via MHC class II, protein deubiquitination, JNK cascade, activation of NF-kappaB-inducing kinase activity, I-kappaB kinase/NF-kappaB signaling, cellular response to DNA damage stimulus, MyD88-dependent toll-like receptor signaling pathway, positive regulation of T cell cytokine production, regulation of immunoglobulin production, toll-like receptor signaling pathway, stimulatory C-type lectin receptor signaling pathway, neural tube closure, ossification, protein polyubiquitination, activation of MAPK activity, negative regulation of transcription by RNA polymerase II, 344 279 398 166 225 235 216 179 210 ENSG00000175105 chr3 88059274 88144665 + ZNF654 protein_coding 55279 GO:0005634, nucleus, GO:0046872, GO:0003677, GO:0000981, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 441 347 448 344 343 382 332 232 226 ENSG00000175106 chr17 15502264 15563595 - TVP23C protein_coding 201158 GO:0030173, integral component of Golgi membrane, GO:0016192, GO:0009306, vesicle-mediated transport, protein secretion, 23 11 37 31 21 28 16 9 28 ENSG00000175110 chr3 139005806 139357223 + MRPS22 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]. 56945 GO:0005763, GO:0005763, GO:0005761, GO:0005743, GO:0005739, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003735, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0008150, mitochondrial translational termination, mitochondrial translational elongation, biological_process, 43 44 72 65 36 57 45 48 66 ENSG00000175115 chr11 66070363 66244747 + PACS1 protein_coding This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]. 55690 GO:0030137, GO:0005829, GO:0005794, COPI-coated vesicle, cytosol, Golgi apparatus, GO:0044325, GO:0044325, GO:0005515, ion channel binding, ion channel binding, protein binding, GO:0072659, GO:0072659, GO:0050690, GO:0034067, protein localization to plasma membrane, protein localization to plasma membrane, regulation of defense response to virus by virus, protein localization to Golgi apparatus, 3668 3986 4773 1327 2525 2086 2010 2209 1891 ENSG00000175121 chr20 45109452 45115172 - WFDC5 protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]. 149708 GO:0005615, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0019731, GO:0010951, innate immune response, antibacterial humoral response, negative regulation of endopeptidase activity, 0 2 1 0 4 5 0 2 0 ENSG00000175130 chr1 32333832 32336379 - MARCKSL1 protein_coding This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [provided by RefSeq, Jun 2012]. 65108 GO:0070062, GO:0005886, GO:0005886, GO:0005856, GO:0005737, extracellular exosome, plasma membrane, plasma membrane, cytoskeleton, cytoplasm, GO:0051015, GO:0005516, GO:0005515, actin filament binding, calmodulin binding, protein binding, GO:0008284, GO:0007417, GO:0007015, positive regulation of cell population proliferation, central nervous system development, actin filament organization, 1358 1383 3349 612 1363 1144 494 824 940 ENSG00000175137 chr1 248810446 248826633 - SH3BP5L protein_coding 80851 GO:0005737, cytoplasm, GO:0005515, GO:0005085, GO:0004860, protein binding, guanyl-nucleotide exchange factor activity, protein kinase inhibitor activity, GO:0061099, GO:0035556, negative regulation of protein tyrosine kinase activity, intracellular signal transduction, 520 624 707 284 604 508 265 467 422 ENSG00000175143 chr1 248403048 248408020 + OR2T1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26696 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000175147 chr1 15111815 15153237 - TMEM51-AS1 antisense 200197 10 8 11 7 22 22 13 13 17 ENSG00000175155 chr17 59331689 59401729 + YPEL2 protein_coding 388403 GO:0005730, nucleolus, GO:0046872, GO:0005515, metal ion binding, protein binding, 189 273 203 188 257 205 186 240 204 ENSG00000175161 chr3 84958981 86074429 + CADM2 protein_coding This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 253559 GO:0045202, GO:0030424, GO:0016021, GO:0005886, synapse, axon, integral component of membrane, plasma membrane, GO:0034332, GO:0007155, adherens junction organization, cell adhesion, 0 0 0 0 0 0 2 0 0 ENSG00000175164 chr9 133250401 133275219 - ABO protein_coding This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. This locus has been identified as a susceptibility locus for severe coronavirus disease 2019 (COVID-19) by genome-wide association study. [provided by RefSeq, Aug 2020]. 28 GO:0032580, GO:0031982, GO:0016021, GO:0005794, GO:0005576, Golgi cisterna membrane, vesicle, integral component of membrane, Golgi apparatus, extracellular region, GO:0030145, GO:0016757, GO:0004381, GO:0004380, GO:0003823, GO:0000166, manganese ion binding, transferase activity, transferring glycosyl groups, fucosylgalactoside 3-alpha-galactosyltransferase activity, glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity, antigen binding, nucleotide binding, GO:0030259, GO:0006486, GO:0005975, lipid glycosylation, protein glycosylation, carbohydrate metabolic process, 9 16 22 0 7 40 0 5 5 ENSG00000175166 chr3 184298709 184309054 + PSMD2 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 5708 GO:1904813, GO:0070062, GO:0034774, GO:0034515, GO:0022624, GO:0016020, GO:0008540, GO:0005838, GO:0005829, GO:0005654, GO:0005634, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, proteasome storage granule, proteasome accessory complex, membrane, proteasome regulatory particle, base subcomplex, proteasome regulatory particle, cytosol, nucleoplasm, nucleus, extracellular region, proteasome complex, GO:0030234, GO:0005515, GO:0004175, enzyme regulator activity, protein binding, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0050790, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0042176, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, regulation of catalytic activity, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 627 711 715 458 567 552 540 431 477 ENSG00000175170 chr20 25763466 25868225 - FAM182B lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000175175 chr17 58755869 58985176 + PPM1E protein_coding This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]. 22843 GO:0032991, GO:0005739, GO:0005730, GO:0005654, GO:0005634, protein-containing complex, mitochondrion, nucleolus, nucleoplasm, nucleus, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004724, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, magnesium-dependent protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:0051496, GO:0035970, GO:0035690, GO:0006470, GO:0006469, GO:0006469, positive regulation of stress fiber assembly, peptidyl-threonine dephosphorylation, cellular response to drug, protein dephosphorylation, negative regulation of protein kinase activity, negative regulation of protein kinase activity, 1 2 0 0 4 0 0 0 0 ENSG00000175182 chr3 184335926 184348421 + FAM131A protein_coding 131408 952 967 1121 333 394 278 408 333 256 ENSG00000175183 chr12 76858715 76879060 - CSRP2 protein_coding CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 1466 GO:0030018, GO:0005925, GO:0005737, GO:0005634, GO:0005634, Z disc, focal adhesion, cytoplasm, nucleus, nucleus, GO:0046872, GO:0042805, GO:0008307, GO:0005515, GO:0003674, metal ion binding, actinin binding, structural constituent of muscle, protein binding, molecular_function, GO:0060537, GO:0045214, GO:0030154, GO:0030036, GO:0007275, muscle tissue development, sarcomere organization, cell differentiation, actin cytoskeleton organization, multicellular organism development, 1 4 5 3 0 4 3 3 1 ENSG00000175189 chr12 57434760 57450828 + INHBC protein_coding This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of homodimeric and heterodimeric activin complexes. The heterodimeric complex may function in the inhibition of activin A signaling. Transgenic mice overexpressing this gene exhibit defects in testis, liver and prostate. [provided by RefSeq, Aug 2016]. 3626 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0008083, GO:0005179, GO:0005160, GO:0005125, growth factor activity, hormone activity, transforming growth factor beta receptor binding, cytokine activity, GO:0060395, GO:0010862, SMAD protein signal transduction, positive regulation of pathway-restricted SMAD protein phosphorylation, 3 2 0 3 2 3 5 1 3 ENSG00000175193 chr3 183829271 183884933 - PARL protein_coding This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]. 55486 GO:0016021, GO:0005743, GO:0005743, GO:0005739, GO:0005634, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleus, GO:0005515, GO:0004252, GO:0004175, GO:0004175, GO:0004175, protein binding, serine-type endopeptidase activity, endopeptidase activity, endopeptidase activity, endopeptidase activity, GO:2000377, GO:1903214, GO:1903214, GO:0033619, GO:0033619, GO:0033619, GO:0030162, GO:0010821, GO:0010821, GO:0006851, GO:0006508, GO:0006508, regulation of reactive oxygen species metabolic process, regulation of protein targeting to mitochondrion, regulation of protein targeting to mitochondrion, membrane protein proteolysis, membrane protein proteolysis, membrane protein proteolysis, regulation of proteolysis, regulation of mitochondrion organization, regulation of mitochondrion organization, mitochondrial calcium ion transmembrane transport, proteolysis, proteolysis, 12 12 7 20 17 17 23 10 25 ENSG00000175197 chr12 57516588 57521737 - DDIT3 protein_coding This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]. 1649 GO:1990622, GO:1990622, GO:1990617, GO:1990617, GO:1990617, GO:0036488, GO:0036488, GO:0036488, GO:0032993, GO:0005829, GO:0005770, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0000785, CHOP-ATF3 complex, CHOP-ATF3 complex, CHOP-ATF4 complex, CHOP-ATF4 complex, CHOP-ATF4 complex, CHOP-C/EBP complex, CHOP-C/EBP complex, CHOP-C/EBP complex, protein-DNA complex, cytosol, late endosome, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, chromatin, GO:0140416, GO:0046982, GO:0046982, GO:0043522, GO:0042803, GO:0042803, GO:0008140, GO:0008140, GO:0008134, GO:0008134, GO:0005515, GO:0003713, GO:0003700, GO:0003700, GO:0003700, GO:0003677, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000976, GO:0000976, GO:0000976, transcription regulator inhibitor activity, protein heterodimerization activity, protein heterodimerization activity, leucine zipper domain binding, protein homodimerization activity, protein homodimerization activity, cAMP response element binding protein binding, cAMP response element binding protein binding, transcription factor binding, transcription factor binding, protein binding, transcription coactivator activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001244, GO:2001244, GO:2001244, GO:2000016, GO:1990442, GO:1990440, GO:1990440, GO:1990440, GO:1990440, GO:1990440, GO:1903026, GO:1902237, GO:0120163, GO:0090090, GO:0072655, GO:0070059, GO:0070059, GO:0070059, GO:0070059, GO:0051898, GO:0051209, GO:0051091, GO:0051091, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045662, GO:0045599, GO:0045454, GO:0044324, GO:0043618, GO:0043525, GO:0043525, GO:0043433, GO:0043433, GO:0043161, GO:0042594, GO:0036500, GO:0036499, GO:0034976, GO:0032792, GO:0032792, GO:0032792, GO:0032757, GO:0032713, GO:0032700, GO:0032689, GO:0032088, GO:0030968, GO:0016055, GO:0010506, GO:0007605, GO:0007050, GO:0006986, GO:0006983, GO:0006974, GO:0006357, GO:0006355, GO:0001955, GO:0000122, GO:0000122, GO:0000122, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of determination of dorsal identity, intrinsic apoptotic signaling pathway in response to nitrosative stress, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of cold-induced thermogenesis, negative regulation of canonical Wnt signaling pathway, establishment of protein localization to mitochondrion, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, negative regulation of protein kinase B signaling, release of sequestered calcium ion into cytosol, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of myoblast differentiation, negative regulation of fat cell differentiation, cell redox homeostasis, regulation of transcription involved in anterior/posterior axis specification, regulation of transcription from RNA polymerase II promoter in response to stress, positive regulation of neuron apoptotic process, positive regulation of neuron apoptotic process, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA-binding transcription factor activity, proteasome-mediated ubiquitin-dependent protein catabolic process, response to starvation, ATF6-mediated unfolded protein response, PERK-mediated unfolded protein response, response to endoplasmic reticulum stress, negative regulation of CREB transcription factor activity, negative regulation of CREB transcription factor activity, negative regulation of CREB transcription factor activity, positive regulation of interleukin-8 production, negative regulation of interleukin-4 production, negative regulation of interleukin-17 production, negative regulation of interferon-gamma production, negative regulation of NF-kappaB transcription factor activity, endoplasmic reticulum unfolded protein response, Wnt signaling pathway, regulation of autophagy, sensory perception of sound, cell cycle arrest, response to unfolded protein, ER overload response, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, blood vessel maturation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1614 2295 1713 32847 28978 32725 25858 19249 21960 ENSG00000175198 chr13 100089015 100530437 + PCCA protein_coding The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]. 5095 GO:0005829, GO:0005759, GO:0005759, GO:0005739, GO:0005739, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, GO:0046872, GO:0019899, GO:0016421, GO:0009374, GO:0005524, GO:0005515, GO:0004658, GO:0004658, GO:0004658, metal ion binding, enzyme binding, CoA carboxylase activity, biotin binding, ATP binding, protein binding, propionyl-CoA carboxylase activity, propionyl-CoA carboxylase activity, propionyl-CoA carboxylase activity, GO:0019626, GO:0019626, GO:0006768, short-chain fatty acid catabolic process, short-chain fatty acid catabolic process, biotin metabolic process, 10 4 14 10 7 33 23 9 6 ENSG00000175202 chr15 72675782 72686149 - HIGD2B protein_coding 123346 GO:0016021, GO:0005739, integral component of membrane, mitochondrion, GO:0005515, protein binding, GO:0097250, mitochondrial respirasome assembly, 0 0 0 0 0 0 0 0 1 ENSG00000175203 chr12 57530102 57547331 - DCTN2 protein_coding This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]. 10540 GO:0070062, GO:0031982, GO:0030426, GO:0030286, GO:0016020, GO:0005874, GO:0005869, GO:0005869, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0000776, extracellular exosome, vesicle, growth cone, dynein complex, membrane, microtubule, dynactin complex, dynactin complex, cytosol, cytosol, centrosome, centrosome, cytoplasm, kinetochore, GO:0042802, GO:0030507, GO:0019901, GO:0005515, GO:0003774, identical protein binding, spectrin binding, protein kinase binding, protein binding, motor activity, GO:0097711, GO:0071539, GO:0032402, GO:0019886, GO:0010389, GO:0007080, GO:0007052, GO:0007052, GO:0007052, GO:0006888, GO:0000086, ciliary basal body-plasma membrane docking, protein localization to centrosome, melanosome transport, antigen processing and presentation of exogenous peptide antigen via MHC class II, regulation of G2/M transition of mitotic cell cycle, mitotic metaphase plate congression, mitotic spindle organization, mitotic spindle organization, mitotic spindle organization, endoplasmic reticulum to Golgi vesicle-mediated transport, G2/M transition of mitotic cell cycle, 337 379 447 262 350 434 258 248 377 ENSG00000175206 chr1 11845709 11848345 - NPPA protein_coding The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]. 4878 GO:0062023, GO:0048471, GO:0043204, GO:0042995, GO:0042629, GO:0032991, GO:0005903, GO:0005737, GO:0005634, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, perinuclear region of cytoplasm, perikaryon, cell projection, mast cell granule, protein-containing complex, brush border, cytoplasm, nucleus, extracellular space, extracellular region, extracellular region, GO:0071855, GO:0051427, GO:0051427, GO:0005515, GO:0005184, GO:0005179, GO:0005102, GO:0005102, neuropeptide receptor binding, hormone receptor binding, hormone receptor binding, protein binding, neuropeptide hormone activity, hormone activity, signaling receptor binding, signaling receptor binding, GO:1903815, GO:1903779, GO:1903766, GO:1903595, GO:1902514, GO:1902261, GO:1901841, GO:0071260, GO:0061049, GO:0060452, GO:0060372, GO:0044267, GO:0043508, GO:0042311, GO:0035994, GO:0032868, GO:0030308, GO:0019934, GO:0014898, GO:0010753, GO:0010460, GO:0008217, GO:0007565, GO:0007218, GO:0007218, GO:0007168, GO:0007168, GO:0006457, GO:0006367, GO:0006182, GO:0006182, GO:0003085, GO:0001666, negative regulation of collecting lymphatic vessel constriction, regulation of cardiac conduction, positive regulation of potassium ion export across plasma membrane, positive regulation of histamine secretion by mast cell, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, positive regulation of delayed rectifier potassium channel activity, regulation of high voltage-gated calcium channel activity, cellular response to mechanical stimulus, cell growth involved in cardiac muscle cell development, positive regulation of cardiac muscle contraction, regulation of atrial cardiac muscle cell membrane repolarization, cellular protein metabolic process, negative regulation of JUN kinase activity, vasodilation, response to muscle stretch, response to insulin, negative regulation of cell growth, cGMP-mediated signaling, cardiac muscle hypertrophy in response to stress, positive regulation of cGMP-mediated signaling, positive regulation of heart rate, regulation of blood pressure, female pregnancy, neuropeptide signaling pathway, neuropeptide signaling pathway, receptor guanylyl cyclase signaling pathway, receptor guanylyl cyclase signaling pathway, protein folding, transcription initiation from RNA polymerase II promoter, cGMP biosynthetic process, cGMP biosynthetic process, negative regulation of systemic arterial blood pressure, response to hypoxia, 6 4 0 2 19 28 9 4 9 ENSG00000175213 chr11 46700818 46705912 + ZNF408 protein_coding The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]. 79797 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0042802, GO:0005515, GO:0000981, GO:0000978, metal ion binding, identical protein binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 25 30 33 36 63 20 26 37 27 ENSG00000175215 chr12 57819927 57846739 - CTDSP2 protein_coding 10106 GO:0005654, nucleoplasm, GO:0106307, GO:0106306, GO:0046872, GO:0008420, GO:0008420, GO:0005515, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, RNA polymerase II CTD heptapeptide repeat phosphatase activity, RNA polymerase II CTD heptapeptide repeat phosphatase activity, protein binding, phosphoprotein phosphatase activity, GO:2000134, GO:0036498, GO:0006470, GO:0001933, negative regulation of G1/S transition of mitotic cell cycle, IRE1-mediated unfolded protein response, protein dephosphorylation, negative regulation of protein phosphorylation, 5175 5359 6314 1465 2686 1805 1690 2413 1719 ENSG00000175216 chr11 46743048 46846308 - CKAP5 protein_coding This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 9793 GO:0035371, GO:0035371, GO:0032991, GO:0016020, GO:0015630, GO:0005886, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0005730, GO:0000930, GO:0000922, GO:0000922, GO:0000777, GO:0000776, GO:0000776, microtubule plus-end, microtubule plus-end, protein-containing complex, membrane, microtubule cytoskeleton, plasma membrane, cytosol, centrosome, centrosome, cytoplasm, nucleolus, gamma-tubulin complex, spindle pole, spindle pole, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0061863, GO:0045296, GO:0043021, GO:0008017, GO:0008017, GO:0005515, microtubule plus end polymerase, cadherin binding, ribonucleoprotein complex binding, microtubule binding, microtubule binding, protein binding, GO:0097711, GO:0090063, GO:0051301, GO:0051298, GO:0050658, GO:0046785, GO:0046785, GO:0030951, GO:0030951, GO:0010389, GO:0007098, GO:0007052, GO:0007051, GO:0007019, GO:0000086, ciliary basal body-plasma membrane docking, positive regulation of microtubule nucleation, cell division, centrosome duplication, RNA transport, microtubule polymerization, microtubule polymerization, establishment or maintenance of microtubule cytoskeleton polarity, establishment or maintenance of microtubule cytoskeleton polarity, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, mitotic spindle organization, spindle organization, microtubule depolymerization, G2/M transition of mitotic cell cycle, 55 46 105 106 53 106 94 33 74 ENSG00000175220 chr11 46677080 46700615 - ARHGAP1 protein_coding This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]. 392 GO:0097443, GO:0070062, GO:0048471, GO:0010008, GO:0005829, GO:0005737, sorting endosome, extracellular exosome, perinuclear region of cytoplasm, endosome membrane, cytosol, cytoplasm, GO:0045296, GO:0031267, GO:0017124, GO:0005515, GO:0005096, cadherin binding, small GTPase binding, SH3 domain binding, protein binding, GTPase activator activity, GO:2001136, GO:0051056, GO:0043547, GO:0033572, GO:0016197, GO:0007266, GO:0007264, negative regulation of endocytic recycling, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, transferrin transport, endosomal transport, Rho protein signal transduction, small GTPase mediated signal transduction, 517 647 652 384 678 593 521 594 497 ENSG00000175221 chr19 867630 893218 - MED16 protein_coding 10025 GO:0016592, GO:0016592, GO:0016020, GO:0005654, GO:0005634, mediator complex, mediator complex, membrane, nucleoplasm, nucleus, GO:0046966, GO:0042809, GO:0030375, GO:0005515, GO:0003824, GO:0003713, thyroid hormone receptor binding, vitamin D receptor binding, thyroid hormone receptor coactivator activity, protein binding, catalytic activity, transcription coactivator activity, GO:0060261, GO:0045893, GO:0045893, GO:0006367, GO:0006366, GO:0006357, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 340 393 411 213 325 320 355 260 269 ENSG00000175224 chr11 46617527 46674818 + ATG13 protein_coding The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]. 9776 GO:1990316, GO:1990316, GO:0019898, GO:0005829, GO:0005829, GO:0005789, GO:0005739, GO:0000407, GO:0000407, Atg1/ULK1 kinase complex, Atg1/ULK1 kinase complex, extrinsic component of membrane, cytosol, cytosol, endoplasmic reticulum membrane, mitochondrion, phagophore assembly site, phagophore assembly site, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:1903955, GO:0098780, GO:0034727, GO:0034497, GO:0016241, GO:0016236, GO:0000423, GO:0000045, positive regulation of protein targeting to mitochondrion, response to mitochondrial depolarisation, piecemeal microautophagy of the nucleus, protein localization to phagophore assembly site, regulation of macroautophagy, macroautophagy, mitophagy, autophagosome assembly, 895 901 1095 609 803 641 669 664 502 ENSG00000175229 chr11 66041952 66049180 - GAL3ST3 protein_coding This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3' position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. [provided by RefSeq, Jul 2008]. 89792 GO:0032580, GO:0016021, Golgi cisterna membrane, integral component of membrane, GO:0050698, GO:0050694, GO:0050694, GO:0050694, GO:0050656, GO:0030246, GO:0008146, GO:0005515, GO:0001733, proteoglycan sulfotransferase activity, galactose 3-O-sulfotransferase activity, galactose 3-O-sulfotransferase activity, galactose 3-O-sulfotransferase activity, 3'-phosphoadenosine 5'-phosphosulfate binding, carbohydrate binding, sulfotransferase activity, protein binding, galactosylceramide sulfotransferase activity, GO:0030309, GO:0030166, GO:0009311, GO:0009247, GO:0006790, GO:0005996, poly-N-acetyllactosamine metabolic process, proteoglycan biosynthetic process, oligosaccharide metabolic process, glycolipid biosynthetic process, sulfur compound metabolic process, monosaccharide metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000175262 chr1 10946471 10982037 - C1orf127 protein_coding 148345 GO:0007507, heart development, 0 1 0 0 0 0 0 1 0 ENSG00000175264 chr11 45648877 45665622 - CHST1 protein_coding This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]. 8534 GO:0016021, GO:0005802, GO:0000139, integral component of membrane, trans-Golgi network, Golgi membrane, GO:0045130, GO:0045130, GO:0045130, GO:0008146, GO:0005515, GO:0001517, keratan sulfotransferase activity, keratan sulfotransferase activity, keratan sulfotransferase activity, sulfotransferase activity, protein binding, N-acetylglucosamine 6-O-sulfotransferase activity, GO:0042339, GO:0042339, GO:0018146, GO:0006954, GO:0006790, GO:0006790, GO:0006044, GO:0006012, GO:0005976, keratan sulfate metabolic process, keratan sulfate metabolic process, keratan sulfate biosynthetic process, inflammatory response, sulfur compound metabolic process, sulfur compound metabolic process, N-acetylglucosamine metabolic process, galactose metabolic process, polysaccharide metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000175265 chr15 34379068 34437466 - GOLGA8A protein_coding The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. 23015 GO:0032580, GO:0005829, GO:0005801, GO:0005794, GO:0000137, Golgi cisterna membrane, cytosol, cis-Golgi network, Golgi apparatus, Golgi cis cisterna, GO:0051225, GO:0051225, GO:0007030, spindle assembly, spindle assembly, Golgi organization, 369 78 231 682 37 191 547 30 188 ENSG00000175267 chr16 22092538 22156966 + VWA3A protein_coding 146177 GO:0005576, extracellular region, 1 2 2 0 0 0 2 0 0 ENSG00000175274 chr11 44885903 44951306 - TP53I11 protein_coding 9537 GO:0016021, integral component of membrane, GO:0008285, negative regulation of cell population proliferation, 1189 1048 2015 368 652 604 562 561 684 ENSG00000175279 chr1 10430443 10442809 + CENPS protein_coding This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]. 378708 GO:0071821, GO:0071821, GO:0043240, GO:0043240, GO:0005829, GO:0005654, GO:0000777, FANCM-MHF complex, FANCM-MHF complex, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, cytosol, nucleoplasm, condensed chromosome kinetochore, GO:0046982, GO:0005515, GO:0003690, GO:0003682, GO:0003682, GO:0003677, protein heterodimerization activity, protein binding, double-stranded DNA binding, chromatin binding, chromatin binding, DNA binding, GO:0051382, GO:0051301, GO:0036297, GO:0034080, GO:0031398, GO:0031297, GO:0031297, GO:0006974, GO:0006974, GO:0006281, GO:0000712, GO:0000712, kinetochore assembly, cell division, interstrand cross-link repair, CENP-A containing nucleosome assembly, positive regulation of protein ubiquitination, replication fork processing, replication fork processing, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, DNA repair, resolution of meiotic recombination intermediates, resolution of meiotic recombination intermediates, 0 0 1 2 0 0 0 0 0 ENSG00000175283 chr9 128945530 128947619 - DOLK protein_coding The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]. 22845 GO:0030176, GO:0030176, GO:0005789, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, GO:0004168, GO:0004168, GO:0004168, protein binding, dolichol kinase activity, dolichol kinase activity, dolichol kinase activity, GO:0043048, GO:0043048, GO:0016310, GO:0006489, dolichyl monophosphate biosynthetic process, dolichyl monophosphate biosynthetic process, phosphorylation, dolichyl diphosphate biosynthetic process, 4 1 7 22 9 11 18 1 0 ENSG00000175287 chr9 128920895 128942041 + PHYHD1 protein_coding 254295 GO:0051213, GO:0046872, GO:0005515, dioxygenase activity, metal ion binding, protein binding, GO:0055114, oxidation-reduction process, 0 6 1 2 0 9 8 0 4 ENSG00000175294 chr11 66016752 66026517 - CATSPER1 protein_coding Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]. 117144 GO:0036128, GO:0036128, GO:0031514, GO:0005886, CatSper complex, CatSper complex, motile cilium, plasma membrane, GO:0005515, GO:0005245, GO:0005227, protein binding, voltage-gated calcium channel activity, calcium activated cation channel activity, GO:0070588, GO:0060296, GO:0035036, GO:0034765, GO:0032570, GO:0030317, GO:0030154, GO:0007283, GO:0007275, GO:0006816, calcium ion transmembrane transport, regulation of cilium beat frequency involved in ciliary motility, sperm-egg recognition, regulation of ion transmembrane transport, response to progesterone, flagellated sperm motility, cell differentiation, spermatogenesis, multicellular organism development, calcium ion transport, 6 2 6 0 5 0 0 5 8 ENSG00000175302 chr21 13384249 13427773 - ANKRD30BP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000175305 chr8 94879770 94896678 - CCNE2 protein_coding The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]. 9134 GO:0097135, GO:0097135, GO:0097134, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005634, GO:0000307, cyclin E2-CDK2 complex, cyclin E2-CDK2 complex, cyclin E1-CDK2 complex, cytosol, centrosome, cytoplasm, nucleoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0019901, GO:0016538, GO:0005515, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0051301, GO:0044772, GO:0000082, GO:0000082, GO:0000079, cell division, mitotic cell cycle phase transition, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, regulation of cyclin-dependent protein serine/threonine kinase activity, 39 36 53 76 78 72 45 75 80 ENSG00000175309 chr5 178208497 178232791 - PHYKPL protein_coding This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 85007 GO:0005759, mitochondrial matrix, GO:0042802, GO:0030170, GO:0016829, GO:0008483, GO:0005515, identical protein binding, pyridoxal phosphate binding, lyase activity, transaminase activity, protein binding, GO:0030574, GO:0006554, collagen catabolic process, lysine catabolic process, 516 513 541 514 562 561 571 399 359 ENSG00000175311 chr16 21233665 21253845 + ANKS4B protein_coding 257629 GO:0005903, GO:0005902, GO:0005886, GO:0005789, brush border, microvillus, plasma membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:1904970, GO:1904106, GO:0034976, GO:0034622, GO:0030154, brush border assembly, protein localization to microvillus, response to endoplasmic reticulum stress, cellular protein-containing complex assembly, cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000175315 chr11 66011841 66013505 + CST6 protein_coding The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008]. 1474 GO:0070062, GO:0001533, extracellular exosome, cornified envelope, GO:0005515, GO:0004869, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0010951, GO:0009653, GO:0008544, negative regulation of endopeptidase activity, anatomical structure morphogenesis, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000175318 chr15 72159807 72197785 - GRAMD2A protein_coding 196996 GO:0044232, GO:0044232, GO:0031234, GO:0031234, GO:0031227, GO:0031227, GO:0016021, organelle membrane contact site, organelle membrane contact site, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, intrinsic component of endoplasmic reticulum membrane, intrinsic component of endoplasmic reticulum membrane, integral component of membrane, GO:0035091, GO:0005546, GO:0005546, GO:0005515, phosphatidylinositol binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:2001256, GO:2001256, GO:0061817, GO:0061817, regulation of store-operated calcium entry, regulation of store-operated calcium entry, endoplasmic reticulum-plasma membrane tethering, endoplasmic reticulum-plasma membrane tethering, 0 0 0 0 0 0 0 1 0 ENSG00000175319 chr18 14153001 14157342 - NF1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000175322 chr18 14057457 14132490 - ZNF519 protein_coding 162655 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2 1 4 9 1 10 11 9 8 ENSG00000175324 chr8 38163321 38176730 - LSM1 protein_coding This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011]. 27257 GO:1990726, GO:1990124, GO:0043025, GO:0030425, GO:0030424, GO:0005829, GO:0005737, GO:0005634, GO:0000932, Lsm1-7-Pat1 complex, messenger ribonucleoprotein complex, neuronal cell body, dendrite, axon, cytosol, cytoplasm, nucleus, P-body, GO:0036002, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0000339, pre-mRNA binding, protein binding, mRNA binding, RNA binding, RNA binding, RNA cap binding, GO:0071044, GO:0045665, GO:0043928, GO:0019827, GO:0016070, GO:0008380, GO:0006397, GO:0000375, GO:0000290, histone mRNA catabolic process, negative regulation of neuron differentiation, exonucleolytic catabolism of deadenylated mRNA, stem cell population maintenance, RNA metabolic process, RNA splicing, mRNA processing, RNA splicing, via transesterification reactions, deadenylation-dependent decapping of nuclear-transcribed mRNA, 73 77 69 45 53 38 53 62 52 ENSG00000175325 chr5 177992235 177996242 - PROP1 protein_coding This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]. 5626 GO:0005667, GO:0000785, transcription regulator complex, chromatin, GO:1990837, GO:0008022, GO:0005515, GO:0003682, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein C-terminus binding, protein binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007417, GO:0006357, central nervous system development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000175329 chr22 35066136 35087387 + ISX protein_coding Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]. 91464 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048484, GO:0006357, enteric nervous system development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000175334 chr11 66002079 66004149 + BANF1 protein_coding The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]. 8815 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005635, GO:0005634, GO:0005634, GO:0000793, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nuclear envelope, nucleus, nucleus, condensed chromosome, GO:0097726, GO:0047485, GO:0042803, GO:0042802, GO:0019899, GO:0008022, GO:0005515, GO:0003677, LEM domain binding, protein N-terminus binding, protein homodimerization activity, identical protein binding, enzyme binding, protein C-terminus binding, protein binding, DNA binding, GO:0075713, GO:0051169, GO:0045071, GO:0030261, GO:0015074, GO:0009615, GO:0007084, GO:0007059, establishment of integrated proviral latency, nuclear transport, negative regulation of viral genome replication, chromosome condensation, DNA integration, response to virus, mitotic nuclear envelope reassembly, chromosome segregation, 46 47 75 63 42 64 59 42 68 ENSG00000175336 chr12 56360569 56362823 - APOF protein_coding The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]. 319 GO:0034364, GO:0034362, GO:0005615, GO:0005615, high-density lipoprotein particle, low-density lipoprotein particle, extracellular space, extracellular space, GO:0015485, GO:0005319, GO:0005102, cholesterol binding, lipid transporter activity, signaling receptor binding, GO:0008203, GO:0006869, GO:0006629, cholesterol metabolic process, lipid transport, lipid metabolic process, 0 2 1 8 1 14 0 0 0 ENSG00000175344 chr15 31923438 32173018 + CHRNA7 protein_coding The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 1139 GO:0099060, GO:0098981, GO:0098794, GO:0045202, GO:0044853, GO:0043005, GO:0030673, GO:0016324, GO:0016021, GO:0009897, GO:0005892, GO:0005892, GO:0005887, GO:0005886, GO:0005886, integral component of postsynaptic specialization membrane, cholinergic synapse, postsynapse, synapse, plasma membrane raft, neuron projection, axolemma, apical plasma membrane, integral component of membrane, external side of plasma membrane, acetylcholine-gated channel complex, acetylcholine-gated channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042803, GO:0042166, GO:0042166, GO:0030594, GO:0022848, GO:0022848, GO:0017081, GO:0015643, GO:0015464, GO:0005515, GO:0005262, GO:0005216, GO:0001540, protein homodimerization activity, acetylcholine binding, acetylcholine binding, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine-gated cation-selective channel activity, chloride channel regulator activity, toxic substance binding, acetylcholine receptor activity, protein binding, calcium channel activity, ion channel activity, amyloid-beta binding, GO:2000463, GO:1905920, GO:1905906, GO:1905144, GO:1905144, GO:1904645, GO:1902991, GO:1902430, GO:1902004, GO:1901214, GO:1900273, GO:0140059, GO:0098815, GO:0097061, GO:0095500, GO:0070588, GO:0070374, GO:0060112, GO:0060079, GO:0051247, GO:0050893, GO:0050890, GO:0050890, GO:0050877, GO:0050808, GO:0050728, GO:0048149, GO:0045766, GO:0042391, GO:0042113, GO:0042110, GO:0035095, GO:0035094, GO:0035094, GO:0034220, GO:0034220, GO:0033138, GO:0032720, GO:0032720, GO:0032715, GO:0032691, GO:0032225, GO:0032094, GO:0030317, GO:0014061, GO:0009409, GO:0008306, GO:0008284, GO:0007614, GO:0007613, GO:0007613, GO:0007611, GO:0007271, GO:0007268, GO:0007165, GO:0007165, GO:0006897, GO:0006874, GO:0006816, GO:0006816, GO:0006811, GO:0001988, GO:0001934, GO:0001933, GO:0001666, GO:0000187, positive regulation of excitatory postsynaptic potential, positive regulation of CoA-transferase activity, regulation of amyloid fibril formation, response to acetylcholine, response to acetylcholine, response to amyloid-beta, regulation of amyloid precursor protein catabolic process, negative regulation of amyloid-beta formation, positive regulation of amyloid-beta formation, regulation of neuron death, positive regulation of long-term synaptic potentiation, dendrite arborization, modulation of excitatory postsynaptic potential, dendritic spine organization, acetylcholine receptor signaling pathway, calcium ion transmembrane transport, positive regulation of ERK1 and ERK2 cascade, generation of ovulation cycle rhythm, excitatory postsynaptic potential, positive regulation of protein metabolic process, sensory processing, cognition, cognition, nervous system process, synapse organization, negative regulation of inflammatory response, behavioral response to ethanol, positive regulation of angiogenesis, regulation of membrane potential, B cell activation, T cell activation, behavioral response to nicotine, response to nicotine, response to nicotine, ion transmembrane transport, ion transmembrane transport, positive regulation of peptidyl-serine phosphorylation, negative regulation of tumor necrosis factor production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, regulation of synaptic transmission, dopaminergic, response to food, flagellated sperm motility, regulation of norepinephrine secretion, response to cold, associative learning, positive regulation of cell population proliferation, short-term memory, memory, memory, learning or memory, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, signal transduction, endocytosis, cellular calcium ion homeostasis, calcium ion transport, calcium ion transport, ion transport, positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, response to hypoxia, activation of MAPK activity, 0 0 0 0 0 0 1 0 0 ENSG00000175348 chr11 8947294 8965011 - TMEM9B protein_coding 56674 GO:0031901, GO:0016021, GO:0005765, early endosome membrane, integral component of membrane, lysosomal membrane, GO:0005515, protein binding, GO:0043123, positive regulation of I-kappaB kinase/NF-kappaB signaling, 232 242 237 77 205 115 119 172 115 ENSG00000175352 chr11 8980576 9004049 - NRIP3 protein_coding 56675 GO:0005515, GO:0004190, protein binding, aspartic-type endopeptidase activity, GO:0006508, proteolysis, 12 26 38 73 71 114 58 39 47 ENSG00000175354 chr18 12785478 12929643 - PTPN2 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]. 5771 GO:0005886, GO:0005829, GO:0005829, GO:0005793, GO:0005783, GO:0005654, GO:0005654, plasma membrane, cytosol, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, nucleoplasm, nucleoplasm, GO:0097677, GO:0030971, GO:0019905, GO:0019901, GO:0005515, GO:0005178, GO:0004726, GO:0004725, GO:0004725, GO:0004725, STAT family protein binding, receptor tyrosine kinase binding, syntaxin binding, protein kinase binding, protein binding, integrin binding, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:2000587, GO:1903899, GO:1902237, GO:1902233, GO:1902227, GO:1902215, GO:1902206, GO:1902202, GO:0071345, GO:0070373, GO:0070104, GO:0061099, GO:0060339, GO:0060336, GO:0060334, GO:0050922, GO:0050860, GO:0050728, GO:0046627, GO:0045722, GO:0045650, GO:0042593, GO:0042532, GO:0042059, GO:0035335, GO:0030218, GO:0030217, GO:0030183, GO:0010888, GO:0010804, GO:0008286, GO:0008285, GO:0000122, negative regulation of platelet-derived growth factor receptor-beta signaling pathway, positive regulation of PERK-mediated unfolded protein response, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of positive thymic T cell selection, negative regulation of macrophage colony-stimulating factor signaling pathway, negative regulation of interleukin-4-mediated signaling pathway, negative regulation of interleukin-2-mediated signaling pathway, regulation of hepatocyte growth factor receptor signaling pathway, cellular response to cytokine stimulus, negative regulation of ERK1 and ERK2 cascade, negative regulation of interleukin-6-mediated signaling pathway, negative regulation of protein tyrosine kinase activity, negative regulation of type I interferon-mediated signaling pathway, negative regulation of interferon-gamma-mediated signaling pathway, regulation of interferon-gamma-mediated signaling pathway, negative regulation of chemotaxis, negative regulation of T cell receptor signaling pathway, negative regulation of inflammatory response, negative regulation of insulin receptor signaling pathway, positive regulation of gluconeogenesis, negative regulation of macrophage differentiation, glucose homeostasis, negative regulation of tyrosine phosphorylation of STAT protein, negative regulation of epidermal growth factor receptor signaling pathway, peptidyl-tyrosine dephosphorylation, erythrocyte differentiation, T cell differentiation, B cell differentiation, negative regulation of lipid storage, negative regulation of tumor necrosis factor-mediated signaling pathway, insulin receptor signaling pathway, negative regulation of cell population proliferation, negative regulation of transcription by RNA polymerase II, 414 361 609 350 347 293 287 267 282 ENSG00000175356 chr11 9019498 9138114 - SCUBE2 protein_coding 57758 GO:0009986, GO:0005615, GO:0005576, cell surface, extracellular space, extracellular region, GO:0008289, GO:0005515, GO:0005509, lipid binding, protein binding, calcium ion binding, GO:0007275, GO:0007165, multicellular organism development, signal transduction, 4 0 6 2 1 5 0 0 0 ENSG00000175376 chr11 65996545 66002176 - EIF1AD protein_coding 84285 GO:0005634, nucleus, GO:0005515, GO:0003743, protein binding, translation initiation factor activity, GO:0006413, translational initiation, 148 126 222 96 92 104 85 72 87 ENSG00000175387 chr18 47808957 47931146 - SMAD2 protein_coding The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]. 4087 GO:0071144, GO:0071144, GO:0071141, GO:0032991, GO:0032444, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, heteromeric SMAD protein complex, heteromeric SMAD protein complex, SMAD protein complex, protein-containing complex, activin responsive factor complex, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:0097718, GO:0070412, GO:0070411, GO:0070411, GO:0070410, GO:0048156, GO:0046872, GO:0046332, GO:0034713, GO:0033613, GO:0031625, GO:0019902, GO:0008134, GO:0005515, GO:0005160, GO:0003700, GO:0003700, GO:0003690, GO:0003682, GO:0003677, GO:0001228, GO:0001228, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, disordered domain specific binding, R-SMAD binding, I-SMAD binding, I-SMAD binding, co-SMAD binding, tau protein binding, metal ion binding, SMAD binding, type I transforming growth factor beta receptor binding, activating transcription factor binding, ubiquitin protein ligase binding, phosphatase binding, transcription factor binding, protein binding, transforming growth factor beta receptor binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, double-stranded DNA binding, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1900224, GO:0070723, GO:0062009, GO:0060395, GO:0060039, GO:0051098, GO:0048701, GO:0048617, GO:0048340, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045893, GO:0045892, GO:0045165, GO:0042060, GO:0038092, GO:0035556, GO:0035265, GO:0035019, GO:0032924, GO:0031053, GO:0031016, GO:0030513, GO:0030512, GO:0030509, GO:0030325, GO:0030324, GO:0030154, GO:0030073, GO:0023019, GO:0017015, GO:0016579, GO:0010718, GO:0009952, GO:0009791, GO:0009749, GO:0009653, GO:0008285, GO:0007369, GO:0007352, GO:0007183, GO:0007182, GO:0007179, GO:0007179, GO:0007179, GO:0007179, GO:0006357, GO:0001707, GO:0001706, GO:0001701, GO:0001657, GO:0000122, positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry, response to cholesterol, secondary palate development, SMAD protein signal transduction, pericardium development, regulation of binding, embryonic cranial skeleton morphogenesis, embryonic foregut morphogenesis, paraxial mesoderm morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, cell fate commitment, wound healing, nodal signaling pathway, intracellular signal transduction, organ growth, somatic stem cell population maintenance, activin receptor signaling pathway, primary miRNA processing, pancreas development, positive regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, adrenal gland development, lung development, cell differentiation, insulin secretion, signal transduction involved in regulation of gene expression, regulation of transforming growth factor beta receptor signaling pathway, protein deubiquitination, positive regulation of epithelial to mesenchymal transition, anterior/posterior pattern specification, post-embryonic development, response to glucose, anatomical structure morphogenesis, negative regulation of cell population proliferation, gastrulation, zygotic specification of dorsal/ventral axis, SMAD protein complex assembly, common-partner SMAD protein phosphorylation, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, transforming growth factor beta receptor signaling pathway, regulation of transcription by RNA polymerase II, mesoderm formation, endoderm formation, in utero embryonic development, ureteric bud development, negative regulation of transcription by RNA polymerase II, 471 554 525 355 688 582 400 540 409 ENSG00000175390 chr11 7970251 8001862 + EIF3F protein_coding 8665 GO:0071541, GO:0033290, GO:0016282, GO:0016020, GO:0005852, GO:0005852, GO:0005829, eukaryotic translation initiation factor 3 complex, eIF3m, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, membrane, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, GO:0101005, GO:0070122, GO:0042802, GO:0031369, GO:0008237, GO:0008234, GO:0005515, GO:0004843, GO:0003743, GO:0003743, GO:0003743, GO:0003743, ubiquitinyl hydrolase activity, isopeptidase activity, identical protein binding, translation initiation factor binding, metallopeptidase activity, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, GO:0075522, GO:0016579, GO:0006413, GO:0006413, GO:0006413, GO:0006413, GO:0001732, IRES-dependent viral translational initiation, protein deubiquitination, translational initiation, translational initiation, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, 233 194 391 480 221 436 286 186 335 ENSG00000175395 chr10 37949572 37976633 - ZNF25 protein_coding 219749 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 44 34 33 50 22 58 46 33 33 ENSG00000175398 chr12 55636860 55637854 + OR10P1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 121130 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 1 0 1 17 2 6 4 2 0 ENSG00000175414 chr5 176365468 176401865 + ARL10 protein_coding 285598 GO:0005525, GTP binding, 21 20 30 64 35 55 69 26 62 ENSG00000175416 chr5 176392455 176416569 - CLTB protein_coding Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 1212 GO:0099631, GO:0060170, GO:0045334, GO:0043231, GO:0030672, GO:0030132, GO:0030130, GO:0030125, GO:0030118, GO:0030118, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005802, postsynaptic endocytic zone cytoplasmic component, ciliary membrane, clathrin-coated endocytic vesicle, intracellular membrane-bounded organelle, synaptic vesicle membrane, clathrin coat of coated pit, clathrin coat of trans-Golgi network vesicle, clathrin vesicle coat, clathrin coat, clathrin coat, plasma membrane, plasma membrane, cytosol, cytosol, trans-Golgi network, GO:0042277, GO:0032050, GO:0005515, GO:0005198, peptide binding, clathrin heavy chain binding, protein binding, structural molecule activity, GO:0072583, GO:0061024, GO:0048268, GO:0006886, clathrin-dependent endocytosis, membrane organization, clathrin coat assembly, intracellular protein transport, 746 625 790 405 536 535 425 444 442 ENSG00000175426 chr5 96390415 96434143 - PCSK1 protein_coding This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014]. 5122 GO:0043005, GO:0034774, GO:0030133, GO:0016020, GO:0005615, GO:0005615, neuron projection, secretory granule lumen, transport vesicle, membrane, extracellular space, extracellular space, GO:0042802, GO:0004252, GO:0004252, identical protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0043043, GO:0016486, GO:0016486, GO:0016485, GO:0007267, GO:0006508, peptide biosynthetic process, peptide hormone processing, peptide hormone processing, protein processing, cell-cell signaling, proteolysis, 0 1 0 0 0 0 0 0 0 ENSG00000175445 chr8 19901717 19967259 + LPL protein_coding LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]. 4023 GO:0042627, GO:0034361, GO:0009986, GO:0005886, GO:0005615, GO:0005615, GO:0005615, GO:0005576, chylomicron, very-low-density lipoprotein particle, cell surface, plasma membrane, extracellular space, extracellular space, extracellular space, extracellular region, GO:0071813, GO:0052740, GO:0052739, GO:0043495, GO:0043395, GO:0042803, GO:0034185, GO:0034185, GO:0017129, GO:0016298, GO:0008970, GO:0008201, GO:0005515, GO:0005509, GO:0005102, GO:0004806, GO:0004806, GO:0004620, GO:0004620, GO:0004465, GO:0004465, GO:0004465, GO:0004465, lipoprotein particle binding, 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, protein-membrane adaptor activity, heparan sulfate proteoglycan binding, protein homodimerization activity, apolipoprotein binding, apolipoprotein binding, triglyceride binding, lipase activity, phospholipase A1 activity, heparin binding, protein binding, calcium ion binding, signaling receptor binding, triglyceride lipase activity, triglyceride lipase activity, phospholipase activity, phospholipase activity, lipoprotein lipase activity, lipoprotein lipase activity, lipoprotein lipase activity, lipoprotein lipase activity, GO:2000343, GO:1900077, GO:0071398, GO:0070328, GO:0055096, GO:0051004, GO:0050729, GO:0050729, GO:0045600, GO:0042632, GO:0042493, GO:0034372, GO:0034372, GO:0034371, GO:0034371, GO:0034371, GO:0032760, GO:0032755, GO:0032731, GO:0032722, GO:0031670, GO:0019433, GO:0019433, GO:0019433, GO:0019432, GO:0016042, GO:0010890, GO:0010886, GO:0010884, GO:0010744, GO:0009749, GO:0009617, GO:0009409, GO:0006644, GO:0006641, GO:0006633, GO:0006633, GO:0006633, GO:0006633, GO:0006631, GO:0001523, positive regulation of chemokine (C-X-C motif) ligand 2 production, negative regulation of cellular response to insulin stimulus, cellular response to fatty acid, triglyceride homeostasis, low-density lipoprotein particle mediated signaling, regulation of lipoprotein lipase activity, positive regulation of inflammatory response, positive regulation of inflammatory response, positive regulation of fat cell differentiation, cholesterol homeostasis, response to drug, very-low-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, chylomicron remodeling, chylomicron remodeling, chylomicron remodeling, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, positive regulation of chemokine production, cellular response to nutrient, triglyceride catabolic process, triglyceride catabolic process, triglyceride catabolic process, triglyceride biosynthetic process, lipid catabolic process, positive regulation of sequestering of triglyceride, positive regulation of cholesterol storage, positive regulation of lipid storage, positive regulation of macrophage derived foam cell differentiation, response to glucose, response to bacterium, response to cold, phospholipid metabolic process, triglyceride metabolic process, fatty acid biosynthetic process, fatty acid biosynthetic process, fatty acid biosynthetic process, fatty acid biosynthetic process, fatty acid metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000175449 chr5 95646754 95684773 + RFESD protein_coding 317671 GO:0051537, GO:0046872, GO:0005515, 2 iron, 2 sulfur cluster binding, metal ion binding, protein binding, GO:0055114, oxidation-reduction process, 0 0 5 12 1 2 4 1 1 ENSG00000175455 chr3 123897305 123961408 - CCDC14 protein_coding 64770 GO:0034451, GO:0005813, GO:0005737, centriolar satellite, centrosome, cytoplasm, GO:0005515, protein binding, GO:0071539, GO:0021762, protein localization to centrosome, substantia nigra development, 66 53 147 159 28 188 120 44 68 ENSG00000175463 chr11 67403915 67410089 + TBC1D10C protein_coding The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]. 374403 GO:0101003, GO:0031527, GO:0016020, GO:0005886, GO:0005886, GO:0005829, ficolin-1-rich granule membrane, filopodium membrane, membrane, plasma membrane, plasma membrane, cytosol, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0070885, GO:0070373, GO:0050869, GO:0043312, GO:0042147, GO:0006886, regulation of cilium assembly, activation of GTPase activity, negative regulation of calcineurin-NFAT signaling cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of B cell activation, neutrophil degranulation, retrograde transport, endosome to Golgi, intracellular protein transport, 1531 1487 1604 1371 1655 1683 1464 1428 1391 ENSG00000175467 chr11 65961689 65979828 + SART1 protein_coding This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]. 9092 GO:0071013, GO:0071005, GO:0046540, GO:0016607, GO:0015030, GO:0005829, GO:0005794, GO:0005737, GO:0005654, GO:0005654, GO:0005634, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, nuclear speck, Cajal body, cytosol, Golgi apparatus, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0045585, GO:0045292, GO:0000481, GO:0000398, GO:0000398, GO:0000398, GO:0000387, positive regulation of cytotoxic T cell differentiation, mRNA cis splicing, via spliceosome, maturation of 5S rRNA, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, 743 729 811 519 565 467 473 445 449 ENSG00000175470 chr10 131900644 131959834 + PPP2R2D protein_coding 55844 GO:0005829, GO:0000159, GO:0000159, cytosol, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0019888, GO:0019888, GO:0005515, protein phosphatase regulator activity, protein phosphatase regulator activity, protein binding, GO:0070262, GO:0051301, GO:0043666, GO:0010458, GO:0000278, peptidyl-serine dephosphorylation, cell division, regulation of phosphoprotein phosphatase activity, exit from mitosis, mitotic cell cycle, 666 626 867 520 786 759 553 508 535 ENSG00000175471 chr5 94703741 95284575 - MCTP1 protein_coding 79772 GO:0055037, GO:0030672, GO:0030672, GO:0016021, GO:0016021, GO:0005789, recycling endosome, synaptic vesicle membrane, synaptic vesicle membrane, integral component of membrane, integral component of membrane, endoplasmic reticulum membrane, GO:0005544, GO:0005509, GO:0005509, calcium-dependent phospholipid binding, calcium ion binding, calcium ion binding, GO:1902883, GO:0048168, GO:0046928, GO:0046928, GO:0045806, GO:0030336, GO:0019722, negative regulation of response to oxidative stress, regulation of neuronal synaptic plasticity, regulation of neurotransmitter secretion, regulation of neurotransmitter secretion, negative regulation of endocytosis, negative regulation of cell migration, calcium-mediated signaling, 525 614 640 365 577 561 413 522 525 ENSG00000175482 chr11 67350777 67356972 - POLD4 protein_coding This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. 57804 GO:0043625, GO:0005654, delta DNA polymerase complex, nucleoplasm, GO:0005515, GO:0003887, protein binding, DNA-directed DNA polymerase activity, GO:0042769, GO:0033683, GO:0032201, GO:0019985, GO:0006298, GO:0006297, GO:0006296, GO:0006283, GO:0006261, GO:0000731, GO:0000723, DNA damage response, detection of DNA damage, nucleotide-excision repair, DNA incision, telomere maintenance via semi-conservative replication, translesion synthesis, mismatch repair, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, transcription-coupled nucleotide-excision repair, DNA-dependent DNA replication, DNA synthesis involved in DNA repair, telomere maintenance, 133 125 155 90 114 105 100 91 105 ENSG00000175485 chr11 6199146 6200259 + OR52W1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 120787 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 1 0 1 0 0 0 0 0 0 ENSG00000175489 chr19 18391144 18397617 - LRRC25 protein_coding 126364 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0005515, protein binding, 3836 3566 4419 416 1626 686 866 1659 893 ENSG00000175497 chr2 114442299 115845752 + DPP10 protein_coding This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 57628 GO:0016020, GO:0008076, GO:0005886, membrane, voltage-gated potassium channel complex, plasma membrane, GO:0044325, GO:0015459, GO:0008239, GO:0008236, ion channel binding, potassium channel regulator activity, dipeptidyl-peptidase activity, serine-type peptidase activity, GO:1903078, GO:1901379, GO:0072659, GO:0006508, positive regulation of protein localization to plasma membrane, regulation of potassium ion transmembrane transport, protein localization to plasma membrane, proteolysis, 0 0 0 3 0 0 0 0 0 ENSG00000175505 chr11 67364168 67374177 - CLCF1 protein_coding This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]. 23529 GO:0097059, GO:0097059, GO:0097058, GO:0097058, GO:0005576, GO:0005576, GO:0005576, GO:0005576, CNTFR-CLCF1 complex, CNTFR-CLCF1 complex, CRLF-CLCF1 complex, CRLF-CLCF1 complex, extracellular region, extracellular region, extracellular region, extracellular region, GO:0008083, GO:0005515, GO:0005127, GO:0005127, GO:0005125, GO:0005125, GO:0005102, growth factor activity, protein binding, ciliary neurotrophic factor receptor binding, ciliary neurotrophic factor receptor binding, cytokine activity, cytokine activity, signaling receptor binding, GO:0048711, GO:0048295, GO:0043524, GO:0042531, GO:0042531, GO:0042531, GO:0030890, GO:0030890, GO:0030183, GO:0019221, GO:0019221, GO:0008284, GO:0007259, GO:0007259, GO:0007166, GO:0007166, GO:0002639, positive regulation of astrocyte differentiation, positive regulation of isotype switching to IgE isotypes, negative regulation of neuron apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of B cell proliferation, positive regulation of B cell proliferation, B cell differentiation, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, receptor signaling pathway via JAK-STAT, receptor signaling pathway via JAK-STAT, cell surface receptor signaling pathway, cell surface receptor signaling pathway, positive regulation of immunoglobulin production, 37 46 60 29 59 63 42 39 43 ENSG00000175509 chr2 113667478 113668621 - AL078621.2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000175513 chr11 65945445 65959963 + TSGA10IP protein_coding 254187 GO:0036064, GO:0032391, GO:0005929, ciliary basal body, photoreceptor connecting cilium, cilium, GO:0005515, protein binding, GO:0044782, cilium organization, 1 0 5 0 2 0 0 0 0 ENSG00000175514 chr11 67451301 67452729 - GPR152 protein_coding 390212 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0042802, GO:0005515, GO:0004930, identical protein binding, protein binding, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 2 2 0 1 0 0 4 1 0 ENSG00000175518 chr11 5514393 5516705 - UBQLNL protein_coding 143630 GO:0005829, cytosol, GO:0031593, GO:0005515, polyubiquitin modification-dependent protein binding, protein binding, GO:0006511, ubiquitin-dependent protein catabolic process, 8 3 4 8 2 8 2 5 0 ENSG00000175520 chr11 5507300 5509985 - UBQLN3 protein_coding This gene encodes a ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and are thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis. It has been suggested that this gene may regulate cell-cycle progression during spermatogenesis, however, it has been shown that the ortholgous mouse gene is dispensable for embryonic development and spermatogenesis. [provided by RefSeq, Nov 2016]. 50613 GO:0005829, cytosol, GO:0031593, GO:0005515, polyubiquitin modification-dependent protein binding, protein binding, GO:0006511, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000175535 chr10 116545931 116567855 + PNLIP protein_coding This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]. 5406 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0046872, GO:0016298, GO:0016298, GO:0004806, GO:0004806, metal ion binding, lipase activity, lipase activity, triglyceride lipase activity, triglyceride lipase activity, GO:0061365, GO:0044241, GO:0030299, GO:0016042, GO:0006629, GO:0001523, positive regulation of triglyceride lipase activity, lipid digestion, intestinal cholesterol absorption, lipid catabolic process, lipid metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000175536 chr11 74491712 74493733 - LIPT2 protein_coding This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. 387787 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0102555, GO:0033819, GO:0016874, octanoyl transferase activity (acting on glycine-cleavage complex H protein), lipoyl(octanoyl) transferase activity, ligase activity, GO:2000376, GO:0034641, GO:0009249, GO:0009249, positive regulation of oxygen metabolic process, cellular nitrogen compound metabolic process, protein lipoylation, protein lipoylation, 3 2 2 1 2 0 1 6 2 ENSG00000175538 chr11 74454841 74467729 - KCNE3 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]. 10008 GO:0045121, GO:0043204, GO:0032809, GO:0031982, GO:0030425, GO:0008076, GO:0008076, GO:0005886, GO:0005737, membrane raft, perikaryon, neuronal cell body membrane, vesicle, dendrite, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, cytoplasm, GO:1902282, GO:0044325, GO:0015459, GO:0015459, GO:0005515, GO:0005251, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, ion channel binding, potassium channel regulator activity, potassium channel regulator activity, protein binding, delayed rectifier potassium channel activity, GO:1905025, GO:1903817, GO:1903765, GO:1902260, GO:1902260, GO:1901387, GO:0098915, GO:0097623, GO:0086091, GO:0086091, GO:0086011, GO:0086005, GO:0060307, negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential, negative regulation of voltage-gated potassium channel activity, negative regulation of potassium ion export across plasma membrane, negative regulation of delayed rectifier potassium channel activity, negative regulation of delayed rectifier potassium channel activity, positive regulation of voltage-gated calcium channel activity, membrane repolarization during ventricular cardiac muscle cell action potential, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, regulation of heart rate by cardiac conduction, membrane repolarization during action potential, ventricular cardiac muscle cell action potential, regulation of ventricular cardiac muscle cell membrane repolarization, 1934 1330 2779 104 436 337 169 404 287 ENSG00000175544 chr11 67452406 67460313 + CABP4 protein_coding This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 57010 GO:0045202, GO:0043195, GO:0005829, GO:0005576, synapse, terminal bouton, cytosol, extracellular region, GO:0044325, GO:0005509, GO:0005509, GO:0005246, ion channel binding, calcium ion binding, calcium ion binding, calcium channel regulator activity, GO:0060040, GO:0046549, GO:0008594, GO:0007602, GO:0007601, GO:0007165, retinal bipolar neuron differentiation, retinal cone cell development, photoreceptor cell morphogenesis, phototransduction, visual perception, signal transduction, 3 2 3 10 0 0 8 0 1 ENSG00000175548 chr12 38316578 38329728 + ALG10B protein_coding 144245 GO:0016021, GO:0005886, GO:0005783, GO:0005783, integral component of membrane, plasma membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0106073, GO:0016740, GO:0005515, dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity, transferase activity, protein binding, GO:1901980, GO:0060050, GO:0006488, GO:0006487, GO:0006486, positive regulation of inward rectifier potassium channel activity, positive regulation of protein glycosylation, dolichol-linked oligosaccharide biosynthetic process, protein N-linked glycosylation, protein glycosylation, 21 12 38 38 18 40 24 19 38 ENSG00000175550 chr11 65919257 65921561 + DRAP1 protein_coding Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008]. 10589 GO:0090575, GO:0017054, GO:0005634, RNA polymerase II transcription regulator complex, negative cofactor 2 complex, nucleus, GO:0046982, GO:0042802, GO:0017025, GO:0016251, GO:0016251, GO:0005515, GO:0003714, GO:0003713, GO:0003677, GO:0001091, GO:0001091, GO:0001046, protein heterodimerization activity, identical protein binding, TBP-class protein binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, transcription corepressor activity, transcription coactivator activity, DNA binding, RNA polymerase II general transcription initiation factor binding, RNA polymerase II general transcription initiation factor binding, core promoter sequence-specific DNA binding, GO:0045944, GO:0006366, GO:0006355, GO:0000122, GO:0000122, positive regulation of transcription by RNA polymerase II, transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 688 576 680 535 581 459 517 472 382 ENSG00000175556 chrX 118974614 119018355 + LONRF3 protein_coding The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008]. 79836 GO:0046872, GO:0005515, metal ion binding, protein binding, 45 29 121 64 59 193 108 40 103 ENSG00000175564 chr11 74000281 74009435 - UCP3 protein_coding Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]. 7352 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0017077, GO:0005515, GO:0005215, oxidative phosphorylation uncoupler activity, protein binding, transporter activity, GO:1990845, GO:1990542, GO:1902600, GO:0051384, GO:0032870, GO:0032868, GO:0014823, GO:0009409, GO:0007585, GO:0007584, GO:0007568, GO:0006631, GO:0006629, GO:0001666, GO:0000303, adaptive thermogenesis, mitochondrial transmembrane transport, proton transmembrane transport, response to glucocorticoid, cellular response to hormone stimulus, response to insulin, response to activity, response to cold, respiratory gaseous exchange by respiratory system, response to nutrient, aging, fatty acid metabolic process, lipid metabolic process, response to hypoxia, response to superoxide, 24 21 17 46 73 70 52 40 42 ENSG00000175567 chr11 73974667 73983307 - UCP2 protein_coding Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]. 7351 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0017077, GO:0005515, oxidative phosphorylation uncoupler activity, protein binding, GO:1990845, GO:1990542, GO:1902600, GO:0120162, GO:0097421, GO:0071333, GO:0070542, GO:0061179, GO:0051881, GO:0043066, GO:0034198, GO:0032869, GO:0010942, GO:0009409, GO:0007568, GO:0007565, GO:0001666, GO:0000303, adaptive thermogenesis, mitochondrial transmembrane transport, proton transmembrane transport, positive regulation of cold-induced thermogenesis, liver regeneration, cellular response to glucose stimulus, response to fatty acid, negative regulation of insulin secretion involved in cellular response to glucose stimulus, regulation of mitochondrial membrane potential, negative regulation of apoptotic process, cellular response to amino acid starvation, cellular response to insulin stimulus, positive regulation of cell death, response to cold, aging, female pregnancy, response to hypoxia, response to superoxide, 399 404 533 402 357 544 425 349 428 ENSG00000175573 chr11 65916808 65919117 - C11orf68 protein_coding 83638 GO:0005515, GO:0003723, protein binding, RNA binding, 242 278 316 70 126 90 45 123 52 ENSG00000175575 chr11 73876699 73931124 + PAAF1 protein_coding This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]. 80227 GO:0000502, proteasome complex, GO:0005515, protein binding, GO:0016032, viral process, 6 4 14 27 5 12 16 7 13 ENSG00000175581 chr11 73787316 73865133 + MRPL48 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]. 51642 GO:0005762, GO:0005761, GO:0005761, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 10 3 8 21 28 59 26 11 15 ENSG00000175582 chr11 73675638 73761137 - RAB6A protein_coding This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. 5870 GO:0070381, GO:0070062, GO:0032588, GO:0031410, GO:0030667, GO:0016020, GO:0012505, GO:0005886, GO:0005829, GO:0005829, GO:0005802, GO:0005794, GO:0005794, GO:0005789, GO:0000139, GO:0000139, endosome to plasma membrane transport vesicle, extracellular exosome, trans-Golgi network membrane, cytoplasmic vesicle, secretory granule membrane, membrane, endomembrane system, plasma membrane, cytosol, cytosol, trans-Golgi network, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, Golgi membrane, Golgi membrane, GO:0031489, GO:0019904, GO:0005525, GO:0005515, GO:0003924, GO:0003924, myosin V binding, protein domain specific binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0072385, GO:0043312, GO:0042147, GO:0034498, GO:0034067, GO:0019882, GO:0018125, GO:0016032, GO:0006891, GO:0006890, GO:0006890, GO:0006890, GO:0006886, minus-end-directed organelle transport along microtubule, neutrophil degranulation, retrograde transport, endosome to Golgi, early endosome to Golgi transport, protein localization to Golgi apparatus, antigen processing and presentation, peptidyl-cysteine methylation, viral process, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, 846 970 954 440 543 476 368 536 428 ENSG00000175591 chr11 73218298 73236352 + P2RY2 protein_coding The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Mar 2013]. 5029 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0045028, GO:0038023, GO:0005515, G protein-coupled purinergic nucleotide receptor activity, signaling receptor activity, protein binding, GO:0097746, GO:0071318, GO:0070257, GO:0035589, GO:0007200, GO:0007186, GO:0006873, blood vessel diameter maintenance, cellular response to ATP, positive regulation of mucus secretion, G protein-coupled purinergic nucleotide receptor signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cellular ion homeostasis, 157 235 482 18 43 52 19 15 26 ENSG00000175592 chr11 65892049 65900573 - FOSL1 protein_coding The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 8061 GO:0043005, GO:0042734, GO:0005829, GO:0005654, GO:0005634, GO:0000785, neuron projection, presynaptic membrane, cytosol, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000144, GO:1902895, GO:0060674, GO:0051591, GO:0051412, GO:0051091, GO:0045787, GO:0043065, GO:0042542, GO:0042493, GO:0034097, GO:0032570, GO:0031668, GO:0009629, GO:0009615, GO:0009612, GO:0008285, GO:0008284, GO:0007612, GO:0007565, GO:0007296, GO:0006968, GO:0006935, GO:0006357, GO:0001701, positive regulation of DNA-templated transcription, initiation, positive regulation of pri-miRNA transcription by RNA polymerase II, placenta blood vessel development, response to cAMP, response to corticosterone, positive regulation of DNA-binding transcription factor activity, positive regulation of cell cycle, positive regulation of apoptotic process, response to hydrogen peroxide, response to drug, response to cytokine, response to progesterone, cellular response to extracellular stimulus, response to gravity, response to virus, response to mechanical stimulus, negative regulation of cell population proliferation, positive regulation of cell population proliferation, learning, female pregnancy, vitellogenesis, cellular defense response, chemotaxis, regulation of transcription by RNA polymerase II, in utero embryonic development, 208 289 307 1234 1737 3466 1153 939 2316 ENSG00000175595 chr16 13920157 13952345 + ERCC4 protein_coding The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]. 2072 GO:0070522, GO:0005654, GO:0005634, GO:0000781, GO:0000110, GO:0000110, GO:0000109, ERCC4-ERCC1 complex, nucleoplasm, nucleus, chromosome, telomeric region, nucleotide-excision repair factor 1 complex, nucleotide-excision repair factor 1 complex, nucleotide-excision repair complex, GO:1990841, GO:1990599, GO:0047485, GO:0042802, GO:0010521, GO:0008022, GO:0005515, GO:0004520, GO:0004520, GO:0004520, GO:0003697, GO:0003697, GO:0003684, GO:0003684, GO:0003677, GO:0001094, GO:0000014, promoter-specific chromatin binding, 3' overhang single-stranded DNA endodeoxyribonuclease activity, protein N-terminus binding, identical protein binding, telomerase inhibitor activity, protein C-terminus binding, protein binding, endodeoxyribonuclease activity, endodeoxyribonuclease activity, endodeoxyribonuclease activity, single-stranded DNA binding, single-stranded DNA binding, damaged DNA binding, damaged DNA binding, DNA binding, TFIID-class transcription factor complex binding, single-stranded DNA endodeoxyribonuclease activity, GO:1905768, GO:1905765, GO:1904357, GO:1901255, GO:0070911, GO:0061819, GO:0051974, GO:0036297, GO:0034644, GO:0033683, GO:0033683, GO:0032205, GO:0010506, GO:0009650, GO:0009411, GO:0006303, GO:0006296, GO:0006296, GO:0006296, GO:0006295, GO:0006295, GO:0006293, GO:0006289, GO:0006289, GO:0006283, GO:0006281, GO:0006281, GO:0000724, GO:0000724, GO:0000723, GO:0000723, GO:0000712, negative regulation of double-stranded telomeric DNA binding, negative regulation of protection from non-homologous end joining at telomere, negative regulation of telomere maintenance via telomere lengthening, nucleotide-excision repair involved in interstrand cross-link repair, global genome nucleotide-excision repair, telomeric DNA-containing double minutes formation, negative regulation of telomerase activity, interstrand cross-link repair, cellular response to UV, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA incision, negative regulation of telomere maintenance, regulation of autophagy, UV protection, response to UV, double-strand break repair via nonhomologous end joining, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, DNA repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance, telomere maintenance, resolution of meiotic recombination intermediates, 9 12 9 23 10 24 32 9 23 ENSG00000175600 chr7 40134977 40860763 + SUGCT protein_coding This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]. 79783 GO:0005739, mitochondrion, GO:0047369, succinate-hydroxymethylglutarate CoA-transferase activity, 8 2 5 4 3 8 1 2 2 ENSG00000175602 chr11 65890112 65891635 + CCDC85B protein_coding Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008]. 11007 GO:0005912, GO:0005813, GO:0005737, GO:0005634, GO:0005634, adherens junction, centrosome, cytoplasm, nucleus, nucleus, GO:0070097, GO:0005515, delta-catenin binding, protein binding, GO:0045892, GO:0045892, GO:0045599, GO:0030308, GO:0030154, GO:0016032, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of fat cell differentiation, negative regulation of cell growth, cell differentiation, viral process, 24 49 81 493 513 1227 225 136 554 ENSG00000175604 chr16 12086746 12090302 - AC007601.1 antisense 2 1 1 2 2 3 1 0 5 ENSG00000175606 chr8 73972437 73982783 + TMEM70 protein_coding This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. 54968 GO:0032592, GO:0032592, GO:0005743, GO:0005739, GO:0005654, integral component of mitochondrial membrane, integral component of mitochondrial membrane, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0033615, GO:0033615, mitochondrial proton-transporting ATP synthase complex assembly, mitochondrial proton-transporting ATP synthase complex assembly, 117 96 75 56 93 59 63 61 42 ENSG00000175611 chr9 95759231 95875977 - LINC00476 lincRNA 100128782 37 19 23 62 21 26 29 14 17 ENSG00000175619 chr11 48216810 48217739 + OR4B1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119765 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000175634 chr11 67428460 67435408 + RPS6KB2 protein_coding This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]. 6199 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0042277, GO:0005524, GO:0004711, GO:0004711, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, peptide binding, ATP binding, ribosomal protein S6 kinase activity, ribosomal protein S6 kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0045948, GO:0031929, GO:0031929, GO:0018105, GO:0007165, GO:0006412, positive regulation of translational initiation, TOR signaling, TOR signaling, peptidyl-serine phosphorylation, signal transduction, translation, 522 507 470 391 442 439 462 355 258 ENSG00000175643 chr16 11249619 11381662 + RMI2 protein_coding RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]. 116028 GO:0016607, GO:0016607, GO:0005829, GO:0005829, GO:0005654, nuclear speck, nuclear speck, cytosol, cytosol, nucleoplasm, GO:0005515, GO:0003677, protein binding, DNA binding, GO:2000042, GO:1901796, GO:0043007, GO:0033045, GO:0033045, GO:0006281, GO:0006260, negative regulation of double-strand break repair via homologous recombination, regulation of signal transduction by p53 class mediator, maintenance of rDNA, regulation of sister chromatid segregation, regulation of sister chromatid segregation, DNA repair, DNA replication, 66 58 88 48 87 69 76 68 69 ENSG00000175646 chr16 11280836 11281350 - PRM1 protein_coding 5619 GO:0005654, GO:0000786, nucleoplasm, nucleosome, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0030261, GO:0030154, GO:0007283, GO:0007275, GO:0006323, chromosome condensation, cell differentiation, spermatogenesis, multicellular organism development, DNA packaging, 0 0 0 0 0 0 0 0 0 ENSG00000175658 chr1 144274892 144277993 - DRD5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000175662 chr17 17843511 17972422 - TOM1L2 protein_coding This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]. 146691 GO:0070062, GO:0016020, GO:0005768, extracellular exosome, membrane, endosome, GO:0030276, GO:0030276, GO:0019901, GO:0005515, clathrin binding, clathrin binding, protein kinase binding, protein binding, GO:0045839, GO:0007165, GO:0007165, GO:0006886, negative regulation of mitotic nuclear division, signal transduction, signal transduction, intracellular protein transport, 508 540 515 575 719 606 616 526 561 ENSG00000175664 chr13 30932703 30975502 + TEX26 protein_coding 122046 GO:0005737, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000175676 chr15 23157366 23170711 + GOLGA8EP transcribed_unprocessed_pseudogene 100132979 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0005515, protein binding, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 0 0 0 0 0 0 ENSG00000175691 chr19 2933218 2944971 - ZNF77 protein_coding 58492 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, molecular_function, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0000122, biological_process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 4 6 5 20 15 13 12 14 ENSG00000175697 chr3 120164645 120285094 - GPR156 protein_coding G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008]. 165829 GO:0038039, GO:0005886, G protein-coupled receptor heterodimeric complex, plasma membrane, GO:0004965, GO:0004888, G protein-coupled GABA receptor activity, transmembrane signaling receptor activity, GO:0007214, gamma-aminobutyric acid signaling pathway, 0 0 0 5 0 0 1 0 0 ENSG00000175699 chr14 93987225 94008863 + CCDC197 protein_coding 256369 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000175701 chr2 110211529 110245420 - MTLN protein_coding 205251 GO:0031305, GO:0031305, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, GO:0051284, GO:0051284, GO:0031334, GO:0010918, GO:0010918, positive regulation of sequestering of calcium ion, positive regulation of sequestering of calcium ion, positive regulation of protein-containing complex assembly, positive regulation of mitochondrial membrane potential, positive regulation of mitochondrial membrane potential, 3 4 4 4 2 0 5 0 10 ENSG00000175707 chr1 26949562 26960406 - KDF1 protein_coding 126695 GO:0072686, GO:0031252, GO:0030054, GO:0030054, GO:0030054, GO:0005938, GO:0005737, GO:0005654, mitotic spindle, cell leading edge, cell junction, cell junction, cell junction, cell cortex, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:2000647, GO:0061436, GO:0060887, GO:0048589, GO:0045606, GO:0016331, GO:0010839, GO:0010482, GO:0010482, GO:0003334, negative regulation of stem cell proliferation, establishment of skin barrier, limb epidermis development, developmental growth, positive regulation of epidermal cell differentiation, morphogenesis of embryonic epithelium, negative regulation of keratinocyte proliferation, regulation of epidermal cell division, regulation of epidermal cell division, keratinocyte development, 1 0 1 0 2 0 2 0 3 ENSG00000175711 chr17 82942155 83051810 - B3GNTL1 protein_coding 146712 GO:0016757, transferase activity, transferring glycosyl groups, 175 198 167 197 320 176 264 173 104 ENSG00000175718 chrX 115189427 115192868 + RBMXL3 protein_coding 139804 GO:0005689, U12-type spliceosomal complex, GO:0017069, GO:0003729, snRNA binding, mRNA binding, GO:0000398, mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000175727 chr12 122078722 122147347 + MLXIP protein_coding This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [provided by RefSeq, Mar 2014]. 22877 GO:0005741, GO:0005634, GO:0000785, mitochondrial outer membrane, nucleus, chromatin, GO:0046983, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein dimerization activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 569 880 775 571 1020 804 649 775 645 ENSG00000175728 chr11 130672956 130717352 + C11orf44 lincRNA 283171 0 0 0 0 0 0 0 0 0 ENSG00000175730 chr20 32690180 32690815 - BAK1P1 processed_pseudogene 3 2 2 2 1 6 0 4 4 ENSG00000175741 chr7 39854494 39855056 - RWDD4P2 processed_pseudogene 17 8 26 11 14 32 15 11 13 ENSG00000175745 chr5 93583224 93594615 + NR2F1 protein_coding The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]. 7025 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0044323, GO:0043565, GO:0008270, GO:0005515, GO:0004879, GO:0003700, GO:0001227, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, retinoic acid-responsive element binding, sequence-specific DNA binding, zinc ion binding, protein binding, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048856, GO:0045944, GO:0030522, GO:0030154, GO:0010977, GO:0007165, GO:0006367, GO:0006357, GO:0000122, GO:0000122, anatomical structure development, positive regulation of transcription by RNA polymerase II, intracellular receptor signaling pathway, cell differentiation, negative regulation of neuron projection development, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000175746 chr15 39250684 39254845 + C15orf54 lincRNA 400360 0 0 0 0 0 0 0 0 7 ENSG00000175749 chr5 103032376 103033031 + EIF3KP1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000175756 chr1 1373730 1375495 - AURKAIP1 protein_coding 54998 GO:0043231, GO:0005840, GO:0005743, GO:0005739, GO:0005739, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0070126, GO:0070125, GO:0045862, GO:0045839, GO:0006397, mitochondrial translational termination, mitochondrial translational elongation, positive regulation of proteolysis, negative regulation of mitotic nuclear division, mRNA processing, 964 874 1060 542 799 770 657 718 637 ENSG00000175764 chr9 121821928 122093606 - TTLL11 protein_coding 158135 GO:0005929, GO:0005874, GO:0005829, cilium, microtubule, cytosol, GO:0070740, GO:0015631, GO:0005524, tubulin-glutamic acid ligase activity, tubulin binding, ATP binding, GO:0051013, GO:0018095, GO:0018095, GO:0000226, microtubule severing, protein polyglutamylation, protein polyglutamylation, microtubule cytoskeleton organization, 0 4 0 7 3 15 3 4 0 ENSG00000175766 chr5 176630618 176646641 + EIF4E1B protein_coding 253314 GO:0016281, GO:0005845, eukaryotic translation initiation factor 4F complex, mRNA cap binding complex, GO:0005515, GO:0003743, GO:0000340, protein binding, translation initiation factor activity, RNA 7-methylguanosine cap binding, GO:0006417, GO:0006413, regulation of translation, translational initiation, 0 0 0 0 0 0 0 0 0 ENSG00000175768 chr9 37582646 37592642 - TOMM5 protein_coding 401505 GO:0016021, GO:0005742, GO:0005742, GO:0005741, GO:0005739, integral component of membrane, mitochondrial outer membrane translocase complex, mitochondrial outer membrane translocase complex, mitochondrial outer membrane, mitochondrion, GO:0016236, GO:0006626, macroautophagy, protein targeting to mitochondrion, 1 0 4 2 0 0 2 0 0 ENSG00000175772 chr2 110375138 110384442 - LINC01106 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000175773 chr11 130314993 130403657 + AP002986.1 lincRNA 3 1 1 2 4 5 4 2 0 ENSG00000175779 chr15 38628005 39180499 + C15orf53 protein_coding 400359 0 0 4 1 1 5 5 1 6 ENSG00000175782 chr12 68746106 68793964 + SLC35E3 protein_coding 55508 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, GO:0015297, GO:0005515, GO:0005338, antiporter activity, protein binding, nucleotide-sugar transmembrane transporter activity, GO:1901264, GO:0055085, GO:0015931, carbohydrate derivative transport, transmembrane transport, nucleobase-containing compound transport, 316 329 297 203 426 280 256 303 224 ENSG00000175785 chr14 93718298 93788481 - PRIMA1 protein_coding The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]. 145270 GO:0045202, GO:0016021, GO:0005886, synapse, integral component of membrane, plasma membrane, GO:0042135, neurotransmitter catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000175787 chr9 94259311 94301454 + ZNF169 protein_coding 169841 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 52 58 47 63 61 58 82 46 46 ENSG00000175792 chr3 128064778 128153914 - RUVBL1 protein_coding This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 8607 GO:1990904, GO:0097255, GO:0097255, GO:0071339, GO:0070062, GO:0035267, GO:0035267, GO:0031011, GO:0031011, GO:0016363, GO:0016020, GO:0005829, GO:0005815, GO:0005654, GO:0005654, GO:0005634, GO:0000812, GO:0000812, ribonucleoprotein complex, R2TP complex, R2TP complex, MLL1 complex, extracellular exosome, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, Ino80 complex, Ino80 complex, nuclear matrix, membrane, cytosol, microtubule organizing center, nucleoplasm, nucleoplasm, nucleus, Swr1 complex, Swr1 complex, GO:0051117, GO:0045296, GO:0043531, GO:0043139, GO:0017025, GO:0016887, GO:0005524, GO:0005515, GO:0003713, GO:0003678, GO:0003678, GO:0001094, ATPase binding, cadherin binding, ADP binding, 5'-3' DNA helicase activity, TBP-class protein binding, ATPase activity, ATP binding, protein binding, transcription coactivator activity, DNA helicase activity, DNA helicase activity, TFIID-class transcription factor complex binding, GO:1904874, GO:1904837, GO:1903508, GO:0090263, GO:0051301, GO:0043968, GO:0043967, GO:0040008, GO:0034080, GO:0032508, GO:0016579, GO:0016573, GO:0007283, GO:0007049, GO:0006357, GO:0006338, GO:0006310, GO:0006281, GO:0000492, positive regulation of telomerase RNA localization to Cajal body, beta-catenin-TCF complex assembly, positive regulation of nucleic acid-templated transcription, positive regulation of canonical Wnt signaling pathway, cell division, histone H2A acetylation, histone H4 acetylation, regulation of growth, CENP-A containing nucleosome assembly, DNA duplex unwinding, protein deubiquitination, histone acetylation, spermatogenesis, cell cycle, regulation of transcription by RNA polymerase II, chromatin remodeling, DNA recombination, DNA repair, box C/D snoRNP assembly, 85 49 125 143 82 172 100 76 98 ENSG00000175793 chr1 26863138 26864457 + SFN protein_coding This gene encodes a cell cycle checkpoint protein. The encoded protein binds to translation and initiation factors and functions as a regulator of mitotic translation. In response to DNA damage this protein plays a role in preventing DNA errors during mitosis. [provided by RefSeq, Aug 2017]. 2810 GO:0070062, GO:0005829, GO:0005829, GO:0005739, GO:0005634, GO:0005615, extracellular exosome, cytosol, cytosol, mitochondrion, nucleus, extracellular space, GO:0051219, GO:0045296, GO:0042802, GO:0019901, GO:0008426, GO:0005515, phosphoprotein binding, cadherin binding, identical protein binding, protein kinase binding, protein kinase C inhibitor activity, protein binding, GO:1900740, GO:0071901, GO:0061436, GO:0061024, GO:0046827, GO:0045606, GO:0043154, GO:0031424, GO:0030307, GO:0010839, GO:0010482, GO:0008630, GO:0007165, GO:0006977, GO:0006469, GO:0003334, GO:0001836, GO:0000079, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, negative regulation of protein serine/threonine kinase activity, establishment of skin barrier, membrane organization, positive regulation of protein export from nucleus, positive regulation of epidermal cell differentiation, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, keratinization, positive regulation of cell growth, negative regulation of keratinocyte proliferation, regulation of epidermal cell division, intrinsic apoptotic signaling pathway in response to DNA damage, signal transduction, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, negative regulation of protein kinase activity, keratinocyte development, release of cytochrome c from mitochondria, regulation of cyclin-dependent protein serine/threonine kinase activity, 45 67 42 110 164 151 102 105 115 ENSG00000175800 chr11 4378282 4379209 + OR52B3P unitary_pseudogene 5 6 12 13 8 1 10 5 4 ENSG00000175806 chr8 10054268 10428891 + MSRA protein_coding This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 4482 GO:0070062, GO:0045171, GO:0016604, GO:0016020, GO:0015629, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, extracellular exosome, intercellular bridge, nuclear body, membrane, actin cytoskeleton, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, GO:0036456, GO:0008113, GO:0008113, GO:0005515, L-methionine-(S)-S-oxide reductase activity, peptide-methionine (S)-S-oxide reductase activity, peptide-methionine (S)-S-oxide reductase activity, protein binding, GO:0055114, GO:0034599, GO:0030091, GO:0006979, GO:0006555, GO:0006464, oxidation-reduction process, cellular response to oxidative stress, protein repair, response to oxidative stress, methionine metabolic process, cellular protein modification process, 164 139 189 80 113 103 97 129 114 ENSG00000175809 chrX 22272943 22274461 + CBLL2 protein_coding This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control. [provided by RefSeq, Aug 2011]. 158506 GO:0005737, cytoplasm, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0030155, GO:0016567, GO:0016567, regulation of cell adhesion, protein ubiquitination, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000175820 chr13 102729369 102759070 - CCDC168 protein_coding 643677 1 2 2 0 4 0 1 1 3 ENSG00000175826 chr17 7243591 7252491 - CTDNEP1 protein_coding 23399 GO:0071595, GO:0031965, GO:0016021, GO:0005811, GO:0005789, GO:0005737, GO:0005635, GO:0005635, Nem1-Spo7 phosphatase complex, nuclear membrane, integral component of membrane, lipid droplet, endoplasmic reticulum membrane, cytoplasm, nuclear envelope, nuclear envelope, GO:0106307, GO:0106306, GO:0005515, GO:0004722, GO:0004722, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, GO:0090263, GO:0034504, GO:0010867, GO:0007498, GO:0007276, GO:0007077, GO:0006998, GO:0006470, positive regulation of canonical Wnt signaling pathway, protein localization to nucleus, positive regulation of triglyceride biosynthetic process, mesoderm development, gamete generation, mitotic nuclear envelope disassembly, nuclear envelope organization, protein dephosphorylation, 646 724 778 286 413 383 343 405 286 ENSG00000175832 chr17 43527844 43579620 - ETV4 protein_coding 2118 GO:0005730, GO:0005654, GO:0005634, GO:0000785, nucleolus, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045618, GO:0030154, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of keratinocyte differentiation, cell differentiation, regulation of transcription by RNA polymerase II, 3 3 2 0 11 0 4 3 0 ENSG00000175841 chr3 101521891 101522979 + FAM172BP processed_pseudogene 4 1 0 3 0 2 9 0 0 ENSG00000175854 chr9 128275379 128288990 + SWI5 protein_coding 375757 GO:0032798, GO:0032798, GO:0005634, Swi5-Sfr1 complex, Swi5-Sfr1 complex, nucleus, GO:0005515, protein binding, GO:0071479, GO:0071479, GO:0000730, GO:0000724, cellular response to ionizing radiation, cellular response to ionizing radiation, DNA recombinase assembly, double-strand break repair via homologous recombination, 34 30 32 26 35 27 23 39 22 ENSG00000175857 chr5 58491435 58497090 + GAPT protein_coding 202309 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0002381, GO:0002322, GO:0001782, immunoglobulin production involved in immunoglobulin-mediated immune response, B cell proliferation involved in immune response, B cell homeostasis, 671 592 1629 127 326 328 208 323 262 ENSG00000175866 chr17 81035122 81117432 + BAIAP2 protein_coding The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]. 10458 GO:0099524, GO:0099523, GO:0098978, GO:0098685, GO:0097060, GO:0070062, GO:0061846, GO:0061845, GO:0060076, GO:0044306, GO:0043198, GO:0043025, GO:0030175, GO:0030141, GO:0015629, GO:0014069, GO:0005912, GO:0005886, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005791, GO:0005737, GO:0005654, GO:0001726, postsynaptic cytosol, presynaptic cytosol, glutamatergic synapse, Schaffer collateral - CA1 synapse, synaptic membrane, extracellular exosome, dendritic spine cytoplasm, neuron projection branch point, excitatory synapse, neuron projection terminus, dendritic shaft, neuronal cell body, filopodium, secretory granule, actin cytoskeleton, postsynaptic density, adherens junction, plasma membrane, microtubule, cytosol, cytosol, cytosol, Golgi apparatus, rough endoplasmic reticulum, cytoplasm, nucleoplasm, ruffle, GO:0098641, GO:0097110, GO:0070064, GO:0042802, GO:0030165, GO:0008093, GO:0008022, GO:0005515, GO:0001221, cadherin binding involved in cell-cell adhesion, scaffold protein binding, proline-rich region binding, identical protein binding, PDZ domain binding, cytoskeletal anchor activity, protein C-terminus binding, protein binding, transcription cofactor binding, GO:2000463, GO:2000251, GO:1905232, GO:0098609, GO:0071364, GO:0061003, GO:0051764, GO:0051764, GO:0051017, GO:0051017, GO:0048167, GO:0048010, GO:0038096, GO:0035418, GO:0032956, GO:0030838, GO:0016358, GO:0009617, GO:0008360, GO:0008286, GO:0007420, GO:0007409, GO:0007009, positive regulation of excitatory postsynaptic potential, positive regulation of actin cytoskeleton reorganization, cellular response to L-glutamate, cell-cell adhesion, cellular response to epidermal growth factor stimulus, positive regulation of dendritic spine morphogenesis, actin crosslink formation, actin crosslink formation, actin filament bundle assembly, actin filament bundle assembly, regulation of synaptic plasticity, vascular endothelial growth factor receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, protein localization to synapse, regulation of actin cytoskeleton organization, positive regulation of actin filament polymerization, dendrite development, response to bacterium, regulation of cell shape, insulin receptor signaling pathway, brain development, axonogenesis, plasma membrane organization, 158 318 201 137 363 227 187 294 192 ENSG00000175868 chr11 14904997 15082342 + CALCB protein_coding 797 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0031716, GO:0005515, GO:0005184, calcitonin receptor binding, protein binding, neuropeptide hormone activity, GO:0051480, GO:0007189, GO:0007186, GO:0007165, GO:0006874, regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cellular calcium ion homeostasis, 1 3 0 0 0 3 5 0 0 ENSG00000175874 chr2 101345551 101387595 - CREG2 protein_coding 200407 GO:0005794, GO:0005783, GO:0005615, Golgi apparatus, endoplasmic reticulum, extracellular space, 14 7 10 2 7 4 0 4 0 ENSG00000175877 chr7 73861159 73865893 + TMEM270 protein_coding 135886 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000175879 chr2 176129694 176132695 + HOXD8 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]. 3234 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048705, GO:0045944, GO:0008595, GO:0006357, GO:0000122, skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, anterior/posterior axis specification, embryo, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000175886 chr18 39334872 39335672 - RPL7AP66 processed_pseudogene 1 4 7 8 2 12 0 0 11 ENSG00000175893 chr9 14611071 14693471 - ZDHHC21 protein_coding 340481 GO:0016021, GO:0005886, GO:0005794, GO:0005794, GO:0005783, GO:0000139, integral component of membrane, plasma membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0019706, GO:0019706, GO:0016409, GO:0016409, GO:0005515, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, palmitoyltransferase activity, protein binding, GO:1904997, GO:1903140, GO:0071875, GO:0050999, GO:0048733, GO:0018345, GO:0018230, GO:0018230, GO:0018230, GO:0006612, GO:0003056, GO:0001942, regulation of leukocyte adhesion to arterial endothelial cell, regulation of establishment of endothelial barrier, adrenergic receptor signaling pathway, regulation of nitric-oxide synthase activity, sebaceous gland development, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, regulation of vascular associated smooth muscle contraction, hair follicle development, 13 20 46 68 33 47 65 19 45 ENSG00000175894 chr21 44497892 44711580 - TSPEAR protein_coding This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. 54084 GO:0060170, GO:0032420, GO:0009986, GO:0005576, ciliary membrane, stereocilium, cell surface, extracellular region, GO:0003674, molecular_function, GO:0034505, GO:0008593, GO:0007605, GO:0007165, tooth mineralization, regulation of Notch signaling pathway, sensory perception of sound, signal transduction, 14 38 20 5 20 9 18 24 9 ENSG00000175895 chr8 95133804 95156684 + PLEKHF2 protein_coding 79666 GO:0031901, GO:0030133, GO:0005783, early endosome membrane, transport vesicle, endoplasmic reticulum, GO:0046872, GO:0035091, GO:0005515, metal ion binding, phosphatidylinositol binding, protein binding, GO:0015031, protein transport, 712 549 1120 238 366 404 308 343 390 ENSG00000175899 chr12 9067664 9116229 - A2M protein_coding The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]. 2 GO:0072562, GO:0070062, GO:0062023, GO:0062023, GO:0031093, GO:0005829, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet alpha granule lumen, cytosol, extracellular space, extracellular region, extracellular region, GO:0048306, GO:0043120, GO:0019966, GO:0019959, GO:0019899, GO:0019838, GO:0005515, GO:0005102, GO:0004867, GO:0004866, GO:0002020, GO:0002020, calcium-dependent protein binding, tumor necrosis factor binding, interleukin-1 binding, interleukin-8 binding, enzyme binding, growth factor binding, protein binding, signaling receptor binding, serine-type endopeptidase inhibitor activity, endopeptidase inhibitor activity, protease binding, protease binding, GO:0051056, GO:0048863, GO:0022617, GO:0010951, GO:0007597, GO:0002576, GO:0001869, regulation of small GTPase mediated signal transduction, stem cell differentiation, extracellular matrix disassembly, negative regulation of endopeptidase activity, blood coagulation, intrinsic pathway, platelet degranulation, negative regulation of complement activation, lectin pathway, 8 4 13 3 0 10 33 1 13 ENSG00000175906 chr17 43398959 43401137 + ARL4D protein_coding ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]. 379 GO:0005886, GO:0005886, GO:0005737, GO:0005737, GO:0005730, plasma membrane, plasma membrane, cytoplasm, cytoplasm, nucleolus, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0016192, GO:0009306, GO:0006886, vesicle-mediated transport, protein secretion, intracellular protein transport, 1 0 0 7 4 19 5 4 8 ENSG00000175920 chr4 3463311 3501473 + DOK7 protein_coding The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 285489 GO:0045202, GO:0005886, GO:0005739, GO:0005654, synapse, plasma membrane, mitochondrion, nucleoplasm, GO:0019901, GO:0019901, GO:0008289, GO:0005515, protein kinase binding, protein kinase binding, lipid binding, protein binding, GO:0061098, GO:0061098, GO:0007528, positive regulation of protein tyrosine kinase activity, positive regulation of protein tyrosine kinase activity, neuromuscular junction development, 0 1 0 4 3 0 1 2 2 ENSG00000175928 chr3 3799437 3847703 + LRRN1 protein_coding 57633 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, GO:0005515, protein binding, GO:0051965, positive regulation of synapse assembly, 25 13 15 20 5 5 14 10 7 ENSG00000175931 chr17 76389451 76453206 - UBE2O protein_coding 63893 GO:0016604, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear body, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0061631, GO:0061631, GO:0061630, GO:0005524, GO:0005515, GO:0004869, GO:0004842, GO:0003723, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase activity, ATP binding, protein binding, cysteine-type endopeptidase inhibitor activity, ubiquitin-protein transferase activity, RNA binding, GO:0070534, GO:0043066, GO:0042147, GO:0030513, GO:0010951, GO:0006513, protein K63-linked ubiquitination, negative regulation of apoptotic process, retrograde transport, endosome to Golgi, positive regulation of BMP signaling pathway, negative regulation of endopeptidase activity, protein monoubiquitination, 119 141 167 128 133 165 131 95 83 ENSG00000175938 chr16 30949066 30956461 + ORAI3 protein_coding 93129 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0015279, GO:0005515, store-operated calcium channel activity, protein binding, GO:0070588, GO:0002115, calcium ion transmembrane transport, store-operated calcium entry, 106 149 149 38 93 82 39 87 51 ENSG00000175946 chr8 123645527 123652950 - KLHL38 protein_coding 340359 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000175967 chr6 113904138 113921642 + FLJ34503 antisense 1 0 0 0 0 0 0 0 0 ENSG00000175970 chr12 120710435 120723640 + UNC119B protein_coding 84747 GO:0035869, GO:0005929, GO:0005929, GO:0005829, ciliary transition zone, cilium, cilium, cytosol, GO:0008289, GO:0008289, GO:0005515, lipid binding, lipid binding, protein binding, GO:0060271, GO:0060271, GO:0042953, GO:0042953, GO:0007399, cilium assembly, cilium assembly, lipoprotein transport, lipoprotein transport, nervous system development, 160 98 135 74 91 100 88 96 64 ENSG00000175984 chr1 114582848 114670422 - DENND2C protein_coding 163259 GO:0005085, GO:0005085, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, 12 6 21 7 13 9 4 1 6 ENSG00000175985 chr14 69484692 69531551 + PLEKHD1 protein_coding 400224 1 5 6 10 2 2 5 5 0 ENSG00000176007 chr9 38527097 38527912 + FAM220BP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176009 chr11 8937579 8938211 - ASCL3 protein_coding Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]. 56676 GO:0090575, GO:0000785, RNA polymerase II transcription regulator complex, chromatin, GO:0046983, GO:0005515, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000977, protein dimerization activity, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000176014 chr18 12307669 12344320 + TUBB6 protein_coding 84617 GO:0070062, GO:0005874, GO:0005874, GO:0005737, GO:0005634, extracellular exosome, microtubule, microtubule, cytoplasm, nucleus, GO:0005525, GO:0005515, GO:0005200, GO:0003924, GO:0003674, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, molecular_function, GO:0000278, GO:0000226, mitotic cell cycle, microtubule cytoskeleton organization, 36 23 37 42 26 33 26 33 21 ENSG00000176018 chr5 90515611 90529584 - LYSMD3 protein_coding 116068 GO:0016021, GO:0005886, GO:0005794, GO:0005794, integral component of membrane, plasma membrane, Golgi apparatus, Golgi apparatus, GO:0007030, GO:0007030, Golgi organization, Golgi organization, 1114 998 1438 793 634 862 796 447 593 ENSG00000176020 chr3 49716834 49719695 - AMIGO3 protein_coding 386724 GO:0016021, integral component of membrane, GO:0051965, GO:0007420, GO:0007157, positive regulation of synapse assembly, brain development, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, 0 1 0 0 0 0 0 0 0 ENSG00000176022 chr1 1232226 1235041 + B3GALT6 protein_coding The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]. 126792 GO:0032580, GO:0016021, GO:0016020, GO:0005797, GO:0000139, Golgi cisterna membrane, integral component of membrane, membrane, Golgi medial cisterna, Golgi membrane, GO:0047220, GO:0035250, GO:0035250, GO:0008499, galactosylxylosylprotein 3-beta-galactosyltransferase activity, UDP-galactosyltransferase activity, UDP-galactosyltransferase activity, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity, GO:0030206, GO:0030203, GO:0015012, GO:0006486, GO:0006024, GO:0006024, chondroitin sulfate biosynthetic process, glycosaminoglycan metabolic process, heparan sulfate proteoglycan biosynthetic process, protein glycosylation, glycosaminoglycan biosynthetic process, glycosaminoglycan biosynthetic process, 21 36 25 20 29 19 22 24 14 ENSG00000176024 chr19 51927147 51948759 + ZNF613 protein_coding 79898 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 15 17 12 20 20 35 12 34 28 ENSG00000176029 chr11 8920076 8933006 - C11orf16 protein_coding 56673 0 0 0 0 0 0 0 0 0 ENSG00000176040 chr3 112034843 112081269 + TMPRSS7 protein_coding 344805 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0008236, GO:0004252, serine-type peptidase activity, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000176043 chr14 72929612 72929930 - AC007160.1 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000176046 chr16 28532708 28539174 - NUPR1 protein_coding 26471 GO:0048471, GO:0032993, GO:0005737, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, protein-DNA complex, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0010698, GO:0005515, GO:0003713, GO:0003682, GO:0003677, acetyltransferase activator activity, protein binding, transcription coactivator activity, chromatin binding, DNA binding, GO:2001244, GO:2001244, GO:2000194, GO:1905897, GO:1905897, GO:1904691, GO:1904036, GO:1903862, GO:1903508, GO:1902902, GO:1901800, GO:0150078, GO:0065003, GO:0062099, GO:0050680, GO:0048147, GO:0045820, GO:0045787, GO:0045786, GO:0045786, GO:0043525, GO:0043433, GO:0043433, GO:0043085, GO:0043066, GO:0042771, GO:0035914, GO:0031401, GO:0010667, GO:0010667, GO:0010507, GO:0010507, GO:0010506, GO:0009636, GO:0008584, GO:0008285, GO:0006473, GO:0002526, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of intrinsic apoptotic signaling pathway, regulation of female gonad development, regulation of response to endoplasmic reticulum stress, regulation of response to endoplasmic reticulum stress, negative regulation of type B pancreatic cell proliferation, negative regulation of epithelial cell apoptotic process, positive regulation of oxidative phosphorylation, positive regulation of nucleic acid-templated transcription, negative regulation of autophagosome assembly, positive regulation of proteasomal protein catabolic process, positive regulation of neuroinflammatory response, protein-containing complex assembly, negative regulation of programmed necrotic cell death, negative regulation of epithelial cell proliferation, negative regulation of fibroblast proliferation, negative regulation of glycolytic process, positive regulation of cell cycle, negative regulation of cell cycle, negative regulation of cell cycle, positive regulation of neuron apoptotic process, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA-binding transcription factor activity, positive regulation of catalytic activity, negative regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, skeletal muscle cell differentiation, positive regulation of protein modification process, negative regulation of cardiac muscle cell apoptotic process, negative regulation of cardiac muscle cell apoptotic process, negative regulation of autophagy, negative regulation of autophagy, regulation of autophagy, response to toxic substance, male gonad development, negative regulation of cell population proliferation, protein acetylation, acute inflammatory response, 2 0 1 0 0 2 0 1 0 ENSG00000176049 chr5 147585439 147782848 - JAKMIP2 protein_coding The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 9832 GO:0005794, Golgi apparatus, GO:0019900, GO:0008017, GO:0005515, kinase binding, microtubule binding, protein binding, 2 3 12 15 7 28 5 12 29 ENSG00000176054 chr21 28997613 28998033 - RPL23P2 processed_pseudogene 0 0 0 1 0 0 1 0 1 ENSG00000176055 chr5 90458203 90474768 - MBLAC2 protein_coding 153364 GO:0070062, extracellular exosome, GO:0046872, GO:0016787, GO:0005515, GO:0003674, metal ion binding, hydrolase activity, protein binding, molecular_function, GO:0008150, biological_process, 3 3 1 26 14 22 16 6 19 ENSG00000176058 chr9 137191617 137204193 - TPRN protein_coding This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]. 286262 GO:0120044, GO:0032420, stereocilium base, stereocilium, GO:0019902, GO:0005515, GO:0003674, phosphatase binding, protein binding, molecular_function, GO:0060088, GO:0007605, auditory receptor cell stereocilium organization, sensory perception of sound, 9 9 7 10 13 16 9 10 18 ENSG00000176076 chrX 109623700 109625172 - KCNE5 protein_coding This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]. 23630 GO:0008076, GO:0005886, voltage-gated potassium channel complex, plasma membrane, GO:1902282, GO:0086008, GO:0044325, GO:0044325, GO:0015459, GO:0015459, GO:0005515, GO:0005251, GO:0005249, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization, ion channel binding, ion channel binding, potassium channel regulator activity, potassium channel regulator activity, protein binding, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:2001257, GO:1903765, GO:1902260, GO:1901381, GO:1901380, GO:1901379, GO:0098915, GO:0097623, GO:0086091, GO:0086091, GO:0086014, GO:0086011, GO:0086005, GO:0086005, GO:0060372, GO:0060307, GO:0060307, GO:0060306, GO:0060048, GO:0008016, regulation of cation channel activity, negative regulation of potassium ion export across plasma membrane, negative regulation of delayed rectifier potassium channel activity, positive regulation of potassium ion transmembrane transport, negative regulation of potassium ion transmembrane transport, regulation of potassium ion transmembrane transport, membrane repolarization during ventricular cardiac muscle cell action potential, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, regulation of heart rate by cardiac conduction, atrial cardiac muscle cell action potential, membrane repolarization during action potential, ventricular cardiac muscle cell action potential, ventricular cardiac muscle cell action potential, regulation of atrial cardiac muscle cell membrane repolarization, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of membrane repolarization, cardiac muscle contraction, regulation of heart contraction, 3 2 2 9 14 15 0 8 15 ENSG00000176083 chr1 26361634 26374522 - ZNF683 protein_coding 257101 GO:0000785, chromatin, GO:1990841, GO:0046872, GO:0005515, GO:0003700, GO:0000978, promoter-specific chromatin binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051136, GO:0045087, GO:0033082, GO:0032826, GO:0032823, GO:0016032, GO:0010468, GO:0006357, GO:0002250, regulation of NK T cell differentiation, innate immune response, regulation of extrathymic T cell differentiation, regulation of natural killer cell differentiation involved in immune response, regulation of natural killer cell differentiation, viral process, regulation of gene expression, regulation of transcription by RNA polymerase II, adaptive immune response, 2 3 7 3 2 29 0 3 12 ENSG00000176087 chr5 140564456 140569103 + SLC35A4 protein_coding 113829 GO:0030173, GO:0005794, integral component of Golgi membrane, Golgi apparatus, GO:0015165, GO:0005515, pyrimidine nucleotide-sugar transmembrane transporter activity, protein binding, GO:0090481, GO:0008643, pyrimidine nucleotide-sugar transmembrane transport, carbohydrate transport, 268 329 419 361 354 399 434 346 349 ENSG00000176092 chr1 26321698 26360080 - CRYBG2 protein_coding 55057 GO:0030246, carbohydrate binding, 9 4 4 1 1 9 7 12 5 ENSG00000176095 chr3 49724294 49786542 - IP6K1 protein_coding This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]. 9807 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0001650, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:0052724, GO:0052723, GO:0016301, GO:0005524, GO:0005515, GO:0000832, GO:0000828, GO:0000828, GO:0000827, inositol hexakisphosphate 3-kinase activity, inositol hexakisphosphate 1-kinase activity, kinase activity, ATP binding, protein binding, inositol hexakisphosphate 5-kinase activity, inositol hexakisphosphate kinase activity, inositol hexakisphosphate kinase activity, inositol-1,3,4,5,6-pentakisphosphate kinase activity, GO:0120163, GO:0046854, GO:0046854, GO:0043647, GO:0032958, negative regulation of cold-induced thermogenesis, phosphatidylinositol phosphorylation, phosphatidylinositol phosphorylation, inositol phosphate metabolic process, inositol phosphate biosynthetic process, 1566 1775 1909 1167 1694 1480 1193 1105 1007 ENSG00000176101 chr9 137188647 137190370 + SSNA1 protein_coding 8636 GO:0036064, GO:0005829, GO:0005813, GO:0005813, GO:0005634, ciliary basal body, cytosol, centrosome, centrosome, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0097711, GO:0060830, GO:0042073, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, ciliary receptor clustering involved in smoothened signaling pathway, intraciliary transport, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 205 193 204 84 153 112 93 149 84 ENSG00000176102 chr11 33077188 33162371 - CSTF3 protein_coding The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 1479 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0031124, GO:0031123, GO:0006379, GO:0006378, GO:0006369, GO:0000398, mRNA 3'-end processing, RNA 3'-end processing, mRNA cleavage, mRNA polyadenylation, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 27 27 35 55 36 51 36 31 74 ENSG00000176105 chr18 721588 812546 - YES1 protein_coding This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]. 7525 GO:0099091, GO:0098978, GO:0070062, GO:0031234, GO:0005925, GO:0005886, GO:0005884, GO:0005829, GO:0005829, GO:0005815, GO:0005794, postsynaptic specialization, intracellular component, glutamatergic synapse, extracellular exosome, extrinsic component of cytoplasmic side of plasma membrane, focal adhesion, plasma membrane, actin filament, cytosol, cytosol, microtubule organizing center, Golgi apparatus, GO:0044325, GO:0019899, GO:0005524, GO:0005515, GO:0005154, GO:0005102, GO:0004715, GO:0004715, GO:0004713, GO:0004713, GO:0001784, ion channel binding, enzyme binding, ATP binding, protein binding, epidermal growth factor receptor binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, phosphotyrosine residue binding, GO:0071560, GO:0071300, GO:0050900, GO:0050731, GO:0048013, GO:0045944, GO:0045087, GO:0043114, GO:0042127, GO:0038096, GO:0038083, GO:0036120, GO:0031295, GO:0030154, GO:0010827, GO:0007169, GO:0006464, cellular response to transforming growth factor beta stimulus, cellular response to retinoic acid, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, ephrin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, innate immune response, regulation of vascular permeability, regulation of cell population proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, peptidyl-tyrosine autophosphorylation, cellular response to platelet-derived growth factor stimulus, T cell costimulation, cell differentiation, regulation of glucose transmembrane transport, transmembrane receptor protein tyrosine kinase signaling pathway, cellular protein modification process, 42 42 79 60 15 43 76 10 8 ENSG00000176108 chr17 80991598 81009517 + CHMP6 protein_coding This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]. 79643 GO:0070062, GO:0031902, GO:0016020, GO:0010008, GO:0005829, GO:0005771, GO:0000815, GO:0000815, GO:0000815, extracellular exosome, late endosome membrane, membrane, endosome membrane, cytosol, multivesicular body, ESCRT III complex, ESCRT III complex, ESCRT III complex, GO:0047485, GO:0044877, GO:0005515, protein N-terminus binding, protein-containing complex binding, protein binding, GO:1904902, GO:1903541, GO:0061952, GO:0042176, GO:0039702, GO:0036258, GO:0032511, GO:0019058, GO:0016236, GO:0016197, GO:0015031, GO:0007175, GO:0007080, GO:0006997, GO:0006900, ESCRT III complex assembly, regulation of exosomal secretion, midbody abscission, regulation of protein catabolic process, viral budding via host ESCRT complex, multivesicular body assembly, late endosome to vacuole transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, protein transport, negative regulation of epidermal growth factor-activated receptor activity, mitotic metaphase plate congression, nucleus organization, vesicle budding from membrane, 72 81 73 37 82 62 68 91 37 ENSG00000176115 chr9 63127359 63143401 + AQP7P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176124 chr13 50082171 50723236 + DLEU1 processed_transcript 10301 34 29 15 12 30 24 30 18 14 ENSG00000176125 chr7 100888723 100889718 - UFSP1 protein_coding This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]. 402682 GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 3 0 3 2 0 2 0 ENSG00000176134 chr9 64637845 64652556 + AL445665.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176136 chr18 13824149 13827323 + MC5R protein_coding This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]. 4161 GO:0005887, GO:0005886, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042562, GO:0005515, GO:0004977, GO:0004930, hormone binding, protein binding, melanocortin receptor activity, G protein-coupled receptor activity, GO:0019222, GO:0007189, GO:0007189, GO:0007187, GO:0007186, regulation of metabolic process, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176142 chr3 119429500 119468830 - TMEM39A protein_coding 55254 GO:0016021, GO:0016020, GO:0005789, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:1902902, GO:1902902, GO:1901097, GO:1901097, GO:0045070, GO:0006914, negative regulation of autophagosome assembly, negative regulation of autophagosome assembly, negative regulation of autophagosome maturation, negative regulation of autophagosome maturation, positive regulation of viral genome replication, autophagy, 92 94 147 98 139 81 79 79 89 ENSG00000176148 chr11 33039417 33105943 + TCP11L1 protein_coding 55346 GO:0005874, microtubule, GO:0005515, protein binding, GO:0007165, signal transduction, 44 40 104 43 57 88 55 34 69 ENSG00000176153 chr14 64939152 64942905 - GPX2 protein_coding The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is predominantly expressed in the gastrointestinal tract (also in liver in human), is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Overexpression of this gene is associated with increased differentiation and proliferation in colorectal cancer. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]. 2877 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0009055, GO:0004602, GO:0004601, electron transfer activity, glutathione peroxidase activity, peroxidase activity, GO:0098869, GO:0034599, GO:0022900, cellular oxidant detoxification, cellular response to oxidative stress, electron transport chain, 19 7 16 5 26 6 17 17 11 ENSG00000176155 chr17 82101460 82212830 - CCDC57 protein_coding 284001 GO:0034451, GO:0005876, GO:0005814, GO:0005813, centriolar satellite, spindle microtubule, centriole, centrosome, GO:0005515, protein binding, GO:0060271, GO:0045931, GO:0007099, GO:0007020, GO:0000086, cilium assembly, positive regulation of mitotic cell cycle, centriole replication, microtubule nucleation, G2/M transition of mitotic cell cycle, 289 273 372 226 378 263 330 285 310 ENSG00000176160 chr17 58420167 58488384 - HSF5 protein_coding 124535 GO:0005634, nucleus, GO:1990837, GO:0003700, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 3 4 3 9 2 19 3 3 18 ENSG00000176165 chr14 28760330 28770277 + FOXG1 protein_coding This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]. 2290 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:1990837, GO:0005515, GO:0003677, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0048664, GO:0045892, GO:0045787, GO:0045666, GO:0045665, GO:0042472, GO:0021852, GO:0016199, GO:0009953, GO:0007568, GO:0007420, GO:0007346, GO:0006357, GO:0002052, GO:0000122, neuron fate determination, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, positive regulation of neuron differentiation, negative regulation of neuron differentiation, inner ear morphogenesis, pyramidal neuron migration, axon midline choice point recognition, dorsal/ventral pattern formation, aging, brain development, regulation of mitotic cell cycle, regulation of transcription by RNA polymerase II, positive regulation of neuroblast proliferation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000176170 chr17 76376584 76387860 + SPHK1 protein_coding The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Phosphorylation of this protein alters its catalytic activity and promotes its translocation to the plasma membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]. 8877 GO:0098793, GO:0043231, GO:0031901, GO:0030139, GO:0016020, GO:0005905, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, presynapse, intracellular membrane-bounded organelle, early endosome membrane, endocytic vesicle, membrane, clathrin-coated pit, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0051721, GO:0038036, GO:0017050, GO:0017050, GO:0017050, GO:0016407, GO:0008481, GO:0008289, GO:0005524, GO:0005516, GO:0005515, GO:0003951, GO:0003677, GO:0001727, GO:0000287, protein phosphatase 2A binding, sphingosine-1-phosphate receptor activity, D-erythro-sphingosine kinase activity, D-erythro-sphingosine kinase activity, D-erythro-sphingosine kinase activity, acetyltransferase activity, sphinganine kinase activity, lipid binding, ATP binding, calmodulin binding, protein binding, NAD+ kinase activity, DNA binding, lipid kinase activity, magnesium ion binding, GO:1905364, GO:1903978, GO:1901224, GO:1900745, GO:1900060, GO:0150077, GO:0071897, GO:0071363, GO:0070301, GO:0051092, GO:0051092, GO:0050764, GO:0048146, GO:0046834, GO:0046521, GO:0046512, GO:0046512, GO:0046512, GO:0045987, GO:0045931, GO:0045840, GO:0045766, GO:0043066, GO:0043066, GO:0043066, GO:0043066, GO:0035924, GO:0035556, GO:0034612, GO:0032740, GO:0032651, GO:0031398, GO:0030335, GO:0030307, GO:0030148, GO:0030100, GO:0019722, GO:0016310, GO:0010803, GO:0010800, GO:0007420, GO:0006954, GO:0006670, GO:0006665, GO:0006473, GO:0006457, GO:0003376, GO:0001568, regulation of endosomal vesicle fusion, regulation of microglial cell activation, positive regulation of NIK/NF-kappaB signaling, positive regulation of p38MAPK cascade, negative regulation of ceramide biosynthetic process, regulation of neuroinflammatory response, DNA biosynthetic process, cellular response to growth factor stimulus, cellular response to hydrogen peroxide, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, regulation of phagocytosis, positive regulation of fibroblast proliferation, lipid phosphorylation, sphingoid catabolic process, sphingosine biosynthetic process, sphingosine biosynthetic process, sphingosine biosynthetic process, positive regulation of smooth muscle contraction, positive regulation of mitotic cell cycle, positive regulation of mitotic nuclear division, positive regulation of angiogenesis, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, negative regulation of apoptotic process, cellular response to vascular endothelial growth factor stimulus, intracellular signal transduction, response to tumor necrosis factor, positive regulation of interleukin-17 production, regulation of interleukin-1 beta production, positive regulation of protein ubiquitination, positive regulation of cell migration, positive regulation of cell growth, sphingolipid biosynthetic process, regulation of endocytosis, calcium-mediated signaling, phosphorylation, regulation of tumor necrosis factor-mediated signaling pathway, positive regulation of peptidyl-threonine phosphorylation, brain development, inflammatory response, sphingosine metabolic process, sphingolipid metabolic process, protein acetylation, protein folding, sphingosine-1-phosphate receptor signaling pathway, blood vessel development, 32 41 91 193 129 280 175 141 247 ENSG00000176171 chr10 131966455 131982013 - BNIP3 protein_coding This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]. 664 GO:0031966, GO:0031966, GO:0031307, GO:0030425, GO:0014069, GO:0005783, GO:0005783, GO:0005741, GO:0005741, GO:0005739, GO:0005739, GO:0005737, GO:0005654, GO:0005635, GO:0005635, GO:0005634, GO:0005634, mitochondrial membrane, mitochondrial membrane, integral component of mitochondrial outer membrane, dendrite, postsynaptic density, endoplasmic reticulum, endoplasmic reticulum, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, cytoplasm, nucleoplasm, nuclear envelope, nuclear envelope, nucleus, nucleus, GO:0051020, GO:0042803, GO:0042802, GO:0005515, GTPase binding, protein homodimerization activity, identical protein binding, protein binding, GO:2000378, GO:1990144, GO:1903715, GO:1903599, GO:1902109, GO:1901998, GO:0140507, GO:0097345, GO:0097345, GO:0090649, GO:0090200, GO:0090141, GO:0072593, GO:0071456, GO:0071456, GO:0071279, GO:0071260, GO:0070301, GO:0060548, GO:0055093, GO:0051607, GO:0051561, GO:0051402, GO:0050873, GO:0048709, GO:0048678, GO:0048102, GO:0046902, GO:0045837, GO:0043653, GO:0043243, GO:0043068, GO:0043068, GO:0043067, GO:0043066, GO:0043065, GO:0035694, GO:0021987, GO:0016239, GO:0016032, GO:0010940, GO:0010917, GO:0010666, GO:0010659, GO:0010637, GO:0010508, GO:0009617, GO:0008219, GO:0006915, GO:0001666, GO:0000422, negative regulation of reactive oxygen species metabolic process, intrinsic apoptotic signaling pathway in response to hypoxia, regulation of aerobic respiration, positive regulation of autophagy of mitochondrion, negative regulation of mitochondrial membrane permeability involved in apoptotic process, toxin transport, granzyme-mediated programmed cell death signaling pathway, mitochondrial outer membrane permeabilization, mitochondrial outer membrane permeabilization, response to oxygen-glucose deprivation, positive regulation of release of cytochrome c from mitochondria, positive regulation of mitochondrial fission, reactive oxygen species metabolic process, cellular response to hypoxia, cellular response to hypoxia, cellular response to cobalt ion, cellular response to mechanical stimulus, cellular response to hydrogen peroxide, negative regulation of cell death, response to hyperoxia, defense response to virus, positive regulation of mitochondrial calcium ion concentration, neuron apoptotic process, brown fat cell differentiation, oligodendrocyte differentiation, response to axon injury, autophagic cell death, regulation of mitochondrial membrane permeability, negative regulation of membrane potential, mitochondrial fragmentation involved in apoptotic process, positive regulation of protein-containing complex disassembly, positive regulation of programmed cell death, positive regulation of programmed cell death, regulation of programmed cell death, negative regulation of apoptotic process, positive regulation of apoptotic process, mitochondrial protein catabolic process, cerebral cortex development, positive regulation of macroautophagy, viral process, positive regulation of necrotic cell death, negative regulation of mitochondrial membrane potential, positive regulation of cardiac muscle cell apoptotic process, cardiac muscle cell apoptotic process, negative regulation of mitochondrial fusion, positive regulation of autophagy, response to bacterium, cell death, apoptotic process, response to hypoxia, autophagy of mitochondrion, 51 63 98 94 75 72 108 63 99 ENSG00000176177 chr22 39743044 39893864 - ENTHD1 protein_coding 150350 GO:0043231, GO:0030125, GO:0005886, GO:0005768, intracellular membrane-bounded organelle, clathrin vesicle coat, plasma membrane, endosome, GO:0030276, GO:0005543, GO:0005515, clathrin binding, phospholipid binding, protein binding, GO:0006897, endocytosis, 0 0 0 0 0 0 0 0 2 ENSG00000176182 chr19 45890020 45902604 - MYPOP protein_coding 339344 GO:0005634, nucleus, GO:0042802, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, identical protein binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 27 44 44 37 72 68 66 59 46 ENSG00000176183 chr5 98338744 98339832 + AC233964.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176194 chr18 12254319 12277595 + CIDEA protein_coding This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]. 1149 GO:0005829, GO:0005811, GO:0005740, GO:0005739, GO:0005737, GO:0005634, cytosol, lipid droplet, mitochondrial envelope, mitochondrion, cytoplasm, nucleus, GO:0042803, protein homodimerization activity, GO:1902510, GO:1900118, GO:0120163, GO:0050995, GO:0050995, GO:0042981, GO:0035634, GO:0034389, GO:0032720, GO:0030512, GO:0019915, GO:0010890, GO:0008219, GO:0006915, GO:0006629, GO:0001818, GO:0001659, regulation of apoptotic DNA fragmentation, negative regulation of execution phase of apoptosis, negative regulation of cold-induced thermogenesis, negative regulation of lipid catabolic process, negative regulation of lipid catabolic process, regulation of apoptotic process, response to stilbenoid, lipid droplet organization, negative regulation of tumor necrosis factor production, negative regulation of transforming growth factor beta receptor signaling pathway, lipid storage, positive regulation of sequestering of triglyceride, cell death, apoptotic process, lipid metabolic process, negative regulation of cytokine production, temperature homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000176198 chr14 20239286 20244349 + OR11H4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390442 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000176200 chr11 59503576 59504511 + OR4D11 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219986 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176204 chr2 76747719 77593319 - LRRTM4 protein_coding 80059 GO:0045211, GO:0031012, GO:0016021, GO:0005615, postsynaptic membrane, extracellular matrix, integral component of membrane, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000176208 chr17 30831970 30895869 + ATAD5 protein_coding 79915 GO:0031391, GO:0005634, Elg1 RFC-like complex, nucleus, GO:0061860, GO:0061860, GO:0005524, GO:0005515, GO:0003677, DNA clamp unloader activity, DNA clamp unloader activity, ATP binding, protein binding, DNA binding, GO:1902751, GO:1902166, GO:1901990, GO:0090618, GO:0048304, GO:0045740, GO:0042771, GO:0042770, GO:0030890, GO:0002377, positive regulation of cell cycle G2/M phase transition, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, regulation of mitotic cell cycle phase transition, DNA clamp unloading, positive regulation of isotype switching to IgG isotypes, positive regulation of DNA replication, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, signal transduction in response to DNA damage, positive regulation of B cell proliferation, immunoglobulin production, 15 6 18 22 16 30 23 10 51 ENSG00000176209 chr8 42541155 42555193 + SMIM19 protein_coding 114926 GO:0016021, integral component of membrane, GO:0005515, protein binding, 25 21 53 42 22 48 45 24 43 ENSG00000176219 chr14 20223710 20224702 + OR11H6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 122748 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176222 chr19 43872363 43901385 - ZNF404 protein_coding 342908 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 1 0 6 4 2 1 3 0 ENSG00000176225 chr18 70003031 70205945 - RTTN protein_coding This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]. 25914 GO:0036064, GO:0036064, GO:0005814, GO:0005813, GO:0005737, ciliary basal body, ciliary basal body, centriole, centrosome, cytoplasm, GO:0032053, GO:0010457, GO:0007368, GO:0007099, ciliary basal body organization, centriole-centriole cohesion, determination of left/right symmetry, centriole replication, 20 25 41 64 21 43 59 17 36 ENSG00000176230 chr14 20110739 20122199 + OR4K17 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390436 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176231 chr19 15944299 15950350 + OR10H4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 126541 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, GO:0003674, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, molecular_function, GO:0098664, GO:0050911, GO:0008150, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, biological_process, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000176232 chr7 63980385 63981477 - AC092634.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176236 chr10 15095385 15097319 - C10orf111 bidirectional_promoter_lncRNA 221060 GO:0016021, integral component of membrane, 1 0 0 3 2 0 1 5 2 ENSG00000176239 chr11 5351508 5352446 + OR51B6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390058 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176243 chr3 96776945 96777683 + CDV3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176244 chr10 15077523 15088776 - ACBD7 protein_coding 414149 GO:0008289, GO:0005515, GO:0000062, lipid binding, protein binding, fatty-acyl-CoA binding, 0 0 1 0 0 0 0 1 0 ENSG00000176246 chr14 20060045 20060983 + OR4L1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 122742 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176248 chr9 137174784 137188549 - ANAPC2 protein_coding A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]. 29882 GO:0005829, GO:0005680, GO:0005680, GO:0005654, cytosol, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:1901990, GO:0090129, GO:0070979, GO:0051301, GO:0050775, GO:0045773, GO:0031915, GO:0031145, GO:0010629, GO:0007049, GO:0006511, regulation of mitotic cell cycle phase transition, positive regulation of synapse maturation, protein K11-linked ubiquitination, cell division, positive regulation of dendrite morphogenesis, positive regulation of axon extension, positive regulation of synaptic plasticity, anaphase-promoting complex-dependent catabolic process, negative regulation of gene expression, cell cycle, ubiquitin-dependent protein catabolic process, 262 295 300 255 407 306 354 336 240 ENSG00000176253 chr14 20029399 20036038 - OR4K13 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390433 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176256 chr1 33860475 33864791 + HMGB4 protein_coding 127540 GO:0005634, GO:0000785, nucleus, chromatin, GO:0008301, GO:0005515, DNA binding, bending, protein binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000176261 chr1 32600172 32650903 - ZBTB8OS protein_coding 339487 GO:0072669, GO:0072669, GO:0005654, tRNA-splicing ligase complex, tRNA-splicing ligase complex, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0006388, GO:0006388, GO:0006388, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, 104 115 125 78 130 82 68 122 86 ENSG00000176268 chr13 40863599 40863902 - CYCSP34 processed_pseudogene 2 0 1 0 2 0 0 1 0 ENSG00000176269 chr8 166049 167043 - OR4F21 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 441308 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176273 chr10 93893973 93956062 + SLC35G1 protein_coding This gene encodes a transmembrane protein which is a member of the drug/metabolite transporter protein superfamily. The encoded protein may play a role in the regulation of calcium levels inside the cell. [provided by RefSeq, Sep 2016]. 159371 GO:0016021, GO:0005886, GO:0005886, GO:0005789, GO:0005789, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:1990034, GO:1990034, GO:0051480, GO:0051480, calcium ion export across plasma membrane, calcium ion export across plasma membrane, regulation of cytosolic calcium ion concentration, regulation of cytosolic calcium ion concentration, 2 2 4 5 1 5 12 3 1 ENSG00000176281 chr14 19920582 19921659 + OR4K5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79317 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176289 chrX 149525001 149526043 + IDSP1 unprocessed_pseudogene 3 6 29 2 7 48 7 4 17 ENSG00000176290 chr14 19868197 19869143 - OR4K3 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 283617 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176293 chr19 58059239 58086310 + ZNF135 protein_coding 7694 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0022604, GO:0007010, GO:0006357, regulation of cell morphogenesis, cytoskeleton organization, regulation of transcription by RNA polymerase II, 182 219 146 239 273 197 269 241 122 ENSG00000176294 chr14 19719015 19830253 + OR4N2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014]. 390429 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176299 chr14 19773504 19783696 + OR4M1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 441670 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176302 chr11 118971707 118981291 + FOXR1 protein_coding This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq, Jul 2008]. 283150 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000176312 chr14 19759868 19760774 + OR4H12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176318 chrX 102546734 102548213 - FOXN3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176320 chr1 158197922 158203877 - AL138899.1 lincRNA 0 0 0 0 0 2 0 0 2 ENSG00000176340 chr11 63974607 63976543 + COX8A protein_coding The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]. 1351 GO:0045277, GO:0016021, GO:0005743, GO:0005739, respiratory chain complex IV, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0004129, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0006123, GO:0006091, proton transmembrane transport, mitochondrial electron transport, cytochrome c to oxygen, generation of precursor metabolites and energy, 187 189 185 91 160 134 128 181 91 ENSG00000176343 chr11 111889199 111889474 - RPL37AP8 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000176349 chr7 1838586 1849931 + AC104129.1 antisense 1 0 3 0 0 0 3 1 0 ENSG00000176358 chr17 49838309 49848017 - TAC4 protein_coding This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 255061 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0031835, substance P receptor binding, GO:1902093, GO:0008217, GO:0007217, GO:0007204, GO:0006954, positive regulation of flagellated sperm motility, regulation of blood pressure, tachykinin receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, inflammatory response, 13 21 12 18 18 10 21 24 16 ENSG00000176371 chr15 84600986 84627796 + ZSCAN2 protein_coding The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 54993 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0030154, GO:0007283, GO:0007275, GO:0006357, cell differentiation, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, 13 11 5 21 21 27 6 9 2 ENSG00000176378 chr1 21459756 21460082 - PFN1P10 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000176381 chr6 166305300 166308448 - PRR18 protein_coding 285800 0 0 0 0 0 0 0 0 0 ENSG00000176383 chr12 122203543 122208952 + B3GNT4 protein_coding This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]. 79369 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0008532, GO:0008532, GO:0008457, GO:0008376, GO:0008375, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0030311, GO:0030311, GO:0018146, GO:0016266, GO:0006486, poly-N-acetyllactosamine biosynthetic process, poly-N-acetyllactosamine biosynthetic process, keratan sulfate biosynthetic process, O-glycan processing, protein glycosylation, 259 262 394 270 296 354 304 229 305 ENSG00000176386 chr9 113255835 113275589 - CDC26 protein_coding The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008]. 246184 GO:0005829, GO:0005680, GO:0005680, GO:0005654, cytosol, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, GO:0005515, protein binding, GO:1901990, GO:0070979, GO:0070979, GO:0051301, GO:0031145, GO:0030071, GO:0007346, GO:0007049, GO:0006511, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, protein K11-linked ubiquitination, cell division, anaphase-promoting complex-dependent catabolic process, regulation of mitotic metaphase/anaphase transition, regulation of mitotic cell cycle, cell cycle, ubiquitin-dependent protein catabolic process, 170 179 227 135 156 195 156 170 119 ENSG00000176387 chr16 67430652 67437553 + HSD11B2 protein_coding There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]. 3291 GO:0005789, endoplasmic reticulum membrane, GO:0051287, GO:0005496, GO:0003845, NAD binding, steroid binding, 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity, GO:0055114, GO:0051384, GO:0042493, GO:0032868, GO:0032094, GO:0007565, GO:0006704, GO:0002017, GO:0001666, oxidation-reduction process, response to glucocorticoid, response to drug, response to insulin, response to food, female pregnancy, glucocorticoid biosynthetic process, regulation of blood volume by renal aldosterone, response to hypoxia, 5 2 12 104 84 130 108 39 95 ENSG00000176390 chr17 30769388 30824776 - CRLF3 protein_coding This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012]. 51379 GO:0005886, GO:0005829, GO:0005737, GO:0005634, plasma membrane, cytosol, cytoplasm, nucleus, GO:0042802, GO:0005515, GO:0003677, identical protein binding, protein binding, DNA binding, GO:0071158, GO:0046427, GO:0045944, GO:0045893, GO:0030308, GO:0000082, positive regulation of cell cycle arrest, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of cell growth, G1/S transition of mitotic cell cycle, 846 1028 970 594 1076 805 757 970 810 ENSG00000176393 chr1 201982372 202006147 + RNPEP protein_coding 6051 GO:0070062, GO:0005886, GO:0005886, GO:0005615, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, plasma membrane, plasma membrane, extracellular space, extracellular region, extracellular region, extracellular region, GO:0070006, GO:0008270, GO:0008235, GO:0004301, GO:0004177, GO:0004177, metalloaminopeptidase activity, zinc ion binding, metalloexopeptidase activity, epoxide hydrolase activity, aminopeptidase activity, aminopeptidase activity, GO:0006508, GO:0006508, proteolysis, proteolysis, 398 667 447 293 716 291 315 601 290 ENSG00000176396 chr19 39538705 39540333 - EID2 protein_coding 163126 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0046332, GO:0005515, GO:0003714, SMAD binding, protein binding, transcription corepressor activity, GO:0045892, GO:0045892, GO:0042127, GO:0030512, GO:0030154, GO:0017015, GO:0007517, GO:0007183, GO:0007181, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of cell population proliferation, negative regulation of transforming growth factor beta receptor signaling pathway, cell differentiation, regulation of transforming growth factor beta receptor signaling pathway, muscle organ development, SMAD protein complex assembly, transforming growth factor beta receptor complex assembly, negative regulation of transcription by RNA polymerase II, 24 17 24 23 15 28 18 17 25 ENSG00000176399 chr9 22446841 22455740 + DMRTA1 protein_coding 63951 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0042802, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, identical protein binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060179, GO:0007548, GO:0007281, GO:0006357, GO:0001541, male mating behavior, sex differentiation, germ cell development, regulation of transcription by RNA polymerase II, ovarian follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000176401 chr19 39530990 39532854 - EID2B protein_coding 126272 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0042802, GO:0005515, GO:0003714, identical protein binding, protein binding, transcription corepressor activity, GO:0045892, GO:0045892, GO:0045662, GO:0030154, GO:0007517, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of myoblast differentiation, cell differentiation, muscle organ development, 7 4 2 1 8 20 5 1 14 ENSG00000176402 chr7 99923269 99929620 - GJC3 protein_coding This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]. 349149 GO:0043209, GO:0016021, GO:0005922, myelin sheath, integral component of membrane, connexin complex, GO:0086077, GO:0005515, GO:0005243, gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling, protein binding, gap junction channel activity, GO:0086053, GO:0055085, GO:0042552, GO:0007605, GO:0007267, AV node cell to bundle of His cell communication by electrical coupling, transmembrane transport, myelination, sensory perception of sound, cell-cell signaling, 0 0 0 0 0 0 0 1 0 ENSG00000176406 chr8 103500748 104256094 + RIMS2 protein_coding The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]. 9699 GO:0070062, GO:0048788, GO:0048786, GO:0042995, GO:0042734, extracellular exosome, cytoskeleton of presynaptic active zone, presynaptic active zone, cell projection, presynaptic membrane, GO:0046872, GO:0044325, GO:0044325, GO:0031267, GO:0005515, metal ion binding, ion channel binding, ion channel binding, small GTPase binding, protein binding, GO:2000463, GO:2000300, GO:1903861, GO:0097151, GO:0061669, GO:0050806, GO:0048791, GO:0048791, GO:0048167, GO:0042391, GO:0042391, GO:0030073, GO:0019933, GO:0017157, GO:0017156, GO:0010628, GO:0006886, positive regulation of excitatory postsynaptic potential, regulation of synaptic vesicle exocytosis, positive regulation of dendrite extension, positive regulation of inhibitory postsynaptic potential, spontaneous neurotransmitter secretion, positive regulation of synaptic transmission, calcium ion-regulated exocytosis of neurotransmitter, calcium ion-regulated exocytosis of neurotransmitter, regulation of synaptic plasticity, regulation of membrane potential, regulation of membrane potential, insulin secretion, cAMP-mediated signaling, regulation of exocytosis, calcium-ion regulated exocytosis, positive regulation of gene expression, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000176407 chr2 84971093 85059472 + KCMF1 protein_coding 56888 GO:1904813, GO:0045202, GO:0005886, GO:0005829, GO:0005576, ficolin-1-rich granule lumen, synapse, plasma membrane, cytosol, extracellular region, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0099536, GO:0043312, GO:0016567, synaptic signaling, neutrophil degranulation, protein ubiquitination, 902 705 905 723 919 978 697 738 744 ENSG00000176410 chr7 73680969 73683453 - DNAJC30 protein_coding This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008]. 84277 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0005515, protein binding, GO:1905706, GO:0007420, GO:0006754, regulation of mitochondrial ATP synthesis coupled proton transport, brain development, ATP biosynthetic process, 3 6 14 14 6 2 13 4 6 ENSG00000176422 chr12 56468567 56479707 + SPRYD4 protein_coding 283377 GO:0005634, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 7 10 21 16 3 26 28 10 13 ENSG00000176428 chr7 73667825 73672112 + VPS37D protein_coding 155382 GO:0070062, GO:0043657, GO:0043231, GO:0031902, GO:0010008, GO:0000813, GO:0000813, GO:0000813, extracellular exosome, host cell, intracellular membrane-bounded organelle, late endosome membrane, endosome membrane, ESCRT I complex, ESCRT I complex, ESCRT I complex, GO:0005515, protein binding, GO:0075733, GO:0043162, GO:0039702, GO:0036258, GO:0032509, GO:0019058, GO:0016236, GO:0016197, GO:0006623, GO:0006612, intracellular transport of virus, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, protein targeting to vacuole, protein targeting to membrane, 0 0 0 0 0 0 0 0 3 ENSG00000176435 chr14 38254103 38256369 - CLEC14A protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]. 161198 GO:0062023, GO:0016021, GO:0009897, GO:0009897, collagen-containing extracellular matrix, integral component of membrane, external side of plasma membrane, external side of plasma membrane, GO:1990430, GO:1990430, GO:0050840, GO:0030246, GO:0005515, extracellular matrix protein binding, extracellular matrix protein binding, extracellular matrix binding, carbohydrate binding, protein binding, GO:0036325, GO:0036324, GO:0016477, GO:0002042, GO:0001946, vascular endothelial growth factor receptor-3 signaling pathway, vascular endothelial growth factor receptor-2 signaling pathway, cell migration, cell migration involved in sprouting angiogenesis, lymphangiogenesis, 0 0 2 0 0 0 0 0 0 ENSG00000176438 chr14 95407266 95475836 - SYNE3 protein_coding 161176 GO:0034993, GO:0034993, GO:0031965, GO:0016021, GO:0016020, GO:0005791, GO:0005737, GO:0005640, GO:0005635, meiotic nuclear membrane microtubule tethering complex, meiotic nuclear membrane microtubule tethering complex, nuclear membrane, integral component of membrane, membrane, rough endoplasmic reticulum, cytoplasm, nuclear outer membrane, nuclear envelope, GO:0140444, GO:0051015, GO:0051015, GO:0005515, cytoskeleton-nuclear membrane anchor activity, actin filament binding, actin filament binding, protein binding, GO:0090150, GO:0008360, GO:0007097, GO:0007010, establishment of protein localization to membrane, regulation of cell shape, nuclear migration, cytoskeleton organization, 161 379 439 263 414 503 311 304 390 ENSG00000176444 chr1 155262868 155278491 - CLK2 protein_coding This gene encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 1196 GO:0016607, GO:0016604, GO:0005654, GO:0005634, nuclear speck, nuclear body, nucleoplasm, nucleus, GO:0042802, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, identical protein binding, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, GO:0046777, GO:0045721, GO:0043484, GO:0032526, GO:0018108, GO:0010212, GO:0006468, protein autophosphorylation, negative regulation of gluconeogenesis, regulation of RNA splicing, response to retinoic acid, peptidyl-tyrosine phosphorylation, response to ionizing radiation, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000176454 chr15 34358618 34367278 - LPCAT4 protein_coding Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]. 254531 GO:0016021, GO:0016020, GO:0005789, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0106263, GO:0106262, GO:0071617, GO:0071617, GO:0047192, GO:0047184, GO:0047166, 1-acylglycerophosphoserine O-acyltransferase activity, 1-acylglycerophosphoethanolamine O-acyltransferase activity, lysophospholipid acyltransferase activity, lysophospholipid acyltransferase activity, 1-alkylglycerophosphocholine O-acetyltransferase activity, 1-acylglycerophosphocholine O-acyltransferase activity, 1-alkenylglycerophosphoethanolamine O-acyltransferase activity, GO:0036152, GO:0036152, GO:0036151, GO:0036151, GO:0036150, GO:0036150, GO:0036148, GO:0006654, GO:0006644, GO:0006644, phosphatidylethanolamine acyl-chain remodeling, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, phosphatidic acid biosynthetic process, phospholipid metabolic process, phospholipid metabolic process, 87 159 119 139 129 188 108 100 156 ENSG00000176463 chr15 91853695 92172435 + SLCO3A1 protein_coding 28232 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015347, GO:0015347, sodium-independent organic anion transmembrane transporter activity, sodium-independent organic anion transmembrane transporter activity, GO:0150104, GO:0055085, GO:0051092, GO:0043252, GO:0043252, GO:0015732, GO:0015732, GO:0001934, transport across blood-brain barrier, transmembrane transport, positive regulation of NF-kappaB transcription factor activity, sodium-independent organic anion transport, sodium-independent organic anion transport, prostaglandin transport, prostaglandin transport, positive regulation of protein phosphorylation, 2402 1966 2708 1491 2035 2023 1808 1531 1745 ENSG00000176472 chr19 43525497 43536130 + ZNF575 protein_coding 284346 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 5 17 20 7 17 30 15 27 ENSG00000176473 chr14 100376418 100530303 + WDR25 protein_coding This gene encodes a protein containing 7 WD repeats. WD repeats are approximately 30 to 40-amino acid domains containing several conserved residues, typically having a Tryptophan-Aspartic acid dipeptide (WD) at the C-terminal end. WD domains are involved in protein-protein interactions in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. 79446 GO:0005515, protein binding, 32 35 24 14 26 12 21 12 5 ENSG00000176476 chr16 28553915 28591790 + SGF29 protein_coding CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]. 112869 GO:0070461, GO:0005671, GO:0005671, GO:0000124, SAGA-type complex, Ada2/Gcn5/Ada3 transcription activator complex, Ada2/Gcn5/Ada3 transcription activator complex, SAGA complex, GO:0047485, GO:0035064, GO:0035064, GO:0019899, GO:0005515, protein N-terminus binding, methylated histone binding, methylated histone binding, enzyme binding, protein binding, GO:0071169, GO:0043966, GO:0043966, GO:0016573, establishment of protein localization to chromatin, histone H3 acetylation, histone H3 acetylation, histone acetylation, 62 54 82 111 79 97 86 84 84 ENSG00000176485 chr11 63573195 63616883 - PLA2G16 protein_coding 11145 GO:0048471, GO:0016021, GO:0005886, GO:0005829, GO:0005783, GO:0005778, GO:0005777, GO:0005737, GO:0005575, perinuclear region of cytoplasm, integral component of membrane, plasma membrane, cytosol, endoplasmic reticulum, peroxisomal membrane, peroxisome, cytoplasm, cellular_component, GO:0102568, GO:0102567, GO:0052740, GO:0052739, GO:0016410, GO:0016410, GO:0008970, GO:0008970, GO:0005515, GO:0004623, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), 1-acyl-2-lysophosphatidylserine acylhydrolase activity, phosphatidylserine 1-acylhydrolase activity, N-acyltransferase activity, N-acyltransferase activity, phospholipase A1 activity, phospholipase A1 activity, protein binding, phospholipase A2 activity, phospholipase A2 activity, GO:1904177, GO:0070292, GO:0070292, GO:0046485, GO:0045786, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0016042, GO:0016032, GO:0009617, GO:0008654, GO:0007031, GO:0006644, GO:0006641, regulation of adipose tissue development, N-acylphosphatidylethanolamine metabolic process, N-acylphosphatidylethanolamine metabolic process, ether lipid metabolic process, negative regulation of cell cycle, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, lipid catabolic process, viral process, response to bacterium, phospholipid biosynthetic process, peroxisome organization, phospholipid metabolic process, triglyceride metabolic process, 5 0 6 11 5 9 19 6 26 ENSG00000176490 chr19 2714567 2721418 - DIRAS1 protein_coding DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]. 148252 GO:0005886, GO:0005886, plasma membrane, plasma membrane, GO:0051019, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, mitogen-activated protein kinase binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0043406, GO:0007165, positive regulation of MAP kinase activity, signal transduction, 1 4 2 4 5 3 5 5 7 ENSG00000176495 chr11 59358895 59371714 + OR5AN1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390195 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050907, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception, G protein-coupled receptor signaling pathway, 1 4 2 0 5 0 0 8 3 ENSG00000176510 chr7 143509256 143519469 - OR10AC1 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 392133 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 2 0 0 0 0 1 ENSG00000176515 chr6 1079929 1104946 + AL033381.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000176531 chr19 43474954 43504935 - PHLDB3 protein_coding 653583 GO:0019899, enzyme binding, 22 7 35 13 8 18 29 4 9 ENSG00000176532 chr7 29563811 29567295 + PRR15 protein_coding 222171 GO:0005515, protein binding, GO:0007275, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000176533 chr19 2511219 2702709 - GNG7 protein_coding 2788 GO:0070062, GO:0031680, GO:0005886, GO:0005834, extracellular exosome, G-protein beta/gamma-subunit complex, plasma membrane, heterotrimeric G-protein complex, GO:0031681, GO:0005515, G-protein beta-subunit binding, protein binding, GO:0008277, GO:0007186, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 276 303 285 97 221 113 133 236 148 ENSG00000176540 chr11 48365485 48366465 - OR4C5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 79346 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176542 chr3 113648385 113696646 - USF3 protein_coding This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma. [provided by RefSeq, May 2017]. 205717 GO:0005634, nucleus, GO:0046983, GO:0003677, protein dimerization activity, DNA binding, GO:0010719, negative regulation of epithelial to mesenchymal transition, 1283 1080 1458 687 820 1517 850 625 1015 ENSG00000176547 chr11 48324920 48328471 + OR4C3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 256144 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176555 chr11 48306223 48307152 + OR4S1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 256148 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176563 chr17 42798792 42811587 + CNTD1 protein_coding 124817 GO:0035861, site of double-strand break, GO:0007283, GO:0007131, spermatogenesis, reciprocal meiotic recombination, 296 305 323 167 317 292 218 258 266 ENSG00000176566 chr8 87870743 87874068 - DCAF4L2 protein_coding 138009 0 0 0 0 0 0 0 0 0 ENSG00000176567 chr11 48263861 48264778 + OR4X1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. 390113 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176571 chr8 86866442 87615219 + CNBD1 protein_coding 168975 0 0 0 0 0 0 0 1 0 ENSG00000176584 chr10 122729429 122826868 + DMBT1P1 transcribed_unprocessed_pseudogene 375940 0 0 0 6 0 0 0 0 0 ENSG00000176593 chr19 58002061 58011232 + AC008969.1 processed_transcript 100128398 34 43 42 48 40 58 51 44 28 ENSG00000176595 chr8 1973878 2006936 + KBTBD11 protein_coding 9920 0 0 0 0 0 0 0 0 0 ENSG00000176597 chr3 183253244 183298504 + B3GNT5 protein_coding This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]. 84002 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0047256, GO:0008457, GO:0008457, GO:0008376, GO:0008375, GO:0005515, lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity, beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity, beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0016266, GO:0009247, GO:0007420, GO:0007417, GO:0006486, GO:0006486, O-glycan processing, glycolipid biosynthetic process, brain development, central nervous system development, protein glycosylation, protein glycosylation, 1791 2076 3436 732 1526 2202 1075 1208 2128 ENSG00000176601 chr2 134964491 135047468 - MAP3K19 protein_coding 80122 GO:0106311, GO:0106310, GO:0005524, protein threonine kinase activity, protein serine kinase activity, ATP binding, GO:0006468, protein phosphorylation, 0 0 0 5 0 0 0 1 1 ENSG00000176605 chr14 98711613 98717766 + C14orf177 protein_coding 283598 0 0 0 0 0 0 0 0 0 ENSG00000176619 chr19 2427638 2456996 - LMNB2 protein_coding This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]. 84823 GO:0031965, GO:0005638, GO:0005637, nuclear membrane, lamin filament, nuclear inner membrane, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:0008150, biological_process, 35 38 96 76 35 100 62 22 58 ENSG00000176623 chr8 86468257 86514357 - RMDN1 protein_coding 51115 GO:0097431, GO:0005876, GO:0005737, mitotic spindle pole, spindle microtubule, cytoplasm, GO:0008017, microtubule binding, GO:0051315, GO:0007052, attachment of mitotic spindle microtubules to kinetochore, mitotic spindle organization, 59 154 83 109 138 133 114 115 105 ENSG00000176624 chr18 51174550 51218304 - MEX3C protein_coding This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]. 51320 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0061630, GO:0046872, GO:0005515, GO:0003723, GO:0003723, ubiquitin protein ligase activity, metal ion binding, protein binding, RNA binding, RNA binding, GO:0097009, GO:0045598, GO:0016567, GO:0003415, energy homeostasis, regulation of fat cell differentiation, protein ubiquitination, chondrocyte hypertrophy, 180 176 244 195 174 297 209 163 256 ENSG00000176635 chr22 30080174 30177075 + HORMAD2 protein_coding 150280 GO:0005694, GO:0005634, GO:0000795, chromosome, nucleus, synaptonemal complex, GO:0005515, protein binding, GO:0051321, GO:0051177, meiotic cell cycle, meiotic sister chromatid cohesion, 0 0 1 4 0 0 0 0 0 ENSG00000176641 chr18 61808063 61894247 - RNF152 protein_coding 220441 GO:0031301, GO:0005765, GO:0005765, GO:0005765, GO:0005764, integral component of organelle membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, GO:0061630, GO:0061630, GO:0061630, GO:0046872, GO:0031267, GO:0005515, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, small GTPase binding, protein binding, ubiquitin-protein transferase activity, GO:1904262, GO:0070936, GO:0070936, GO:0070534, GO:0034198, GO:0034198, GO:0016567, GO:0010508, GO:0010508, GO:0006915, negative regulation of TORC1 signaling, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein K63-linked ubiquitination, cellular response to amino acid starvation, cellular response to amino acid starvation, protein ubiquitination, positive regulation of autophagy, positive regulation of autophagy, apoptotic process, 6 7 3 2 3 2 0 5 1 ENSG00000176654 chr12 7890801 7900140 + NANOGP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176658 chr17 32492522 32877177 - MYO1D protein_coding 4642 GO:0097440, GO:0070062, GO:0044853, GO:0043209, GO:0043204, GO:0043025, GO:0043005, GO:0031982, GO:0031410, GO:0030673, GO:0030424, GO:0016459, GO:0016323, GO:0015629, GO:0005938, GO:0005903, GO:0005902, GO:0005886, GO:0005829, GO:0005790, GO:0005769, GO:0005768, GO:0005737, apical dendrite, extracellular exosome, plasma membrane raft, myelin sheath, perikaryon, neuronal cell body, neuron projection, vesicle, cytoplasmic vesicle, axolemma, axon, myosin complex, basolateral plasma membrane, actin cytoskeleton, cell cortex, brush border, microvillus, plasma membrane, cytosol, smooth endoplasmic reticulum, early endosome, endosome, cytoplasm, GO:0051015, GO:0051015, GO:0048306, GO:0030898, GO:0030898, GO:0019904, GO:0005524, GO:0005516, GO:0000146, GO:0000146, actin filament binding, actin filament binding, calcium-dependent protein binding, actin-dependent ATPase activity, actin-dependent ATPase activity, protein domain specific binding, ATP binding, calmodulin binding, microfilament motor activity, microfilament motor activity, GO:0061502, GO:0051641, GO:0030900, GO:0030050, GO:0015031, GO:0010923, GO:0007015, early endosome to recycling endosome transport, cellular localization, forebrain development, vesicle transport along actin filament, protein transport, negative regulation of phosphatase activity, actin filament organization, 4 2 9 16 14 15 26 3 12 ENSG00000176659 chr20 60055925 60072953 + C20orf197 lincRNA 284756 59 68 103 37 68 54 20 54 62 ENSG00000176678 chr16 86576368 86582160 + FOXL1 protein_coding This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]. 2300 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:0043565, GO:0008301, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, DNA binding, bending, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0061146, GO:0030166, GO:0030154, GO:0030111, GO:0009653, GO:0007507, GO:0007495, GO:0007275, GO:0006357, Peyer's patch morphogenesis, proteoglycan biosynthetic process, cell differentiation, regulation of Wnt signaling pathway, anatomical structure morphogenesis, heart development, visceral mesoderm-endoderm interaction involved in midgut development, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000176679 chrY 3579041 3580041 + TGIF2LY protein_coding This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008]. 90655 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000176681 chr17 46292733 46337794 + LRRC37A protein_coding 9884 GO:0016021, integral component of membrane, 23 2 5 25 9 1 18 5 6 ENSG00000176692 chr16 86566829 86569728 + FOXC2 protein_coding This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]. 2303 GO:0016604, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, nuclear body, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:1990841, GO:1990837, GO:0043565, GO:0042802, GO:0031490, GO:0005515, GO:0001228, GO:0001216, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, identical protein binding, chromatin DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1902257, GO:0120163, GO:0097746, GO:0090050, GO:0072144, GO:0072112, GO:0072011, GO:0060038, GO:0055010, GO:0048844, GO:0048703, GO:0048343, GO:0048010, GO:0046620, GO:0045944, GO:0045944, GO:0045893, GO:0043010, GO:0035470, GO:0035050, GO:0033630, GO:0030199, GO:0030154, GO:0014032, GO:0010595, GO:0009725, GO:0009653, GO:0008286, GO:0007507, GO:0007498, GO:0007219, GO:0006357, GO:0001974, GO:0001946, GO:0001756, GO:0001657, GO:0001656, GO:0001569, GO:0001503, GO:0000122, negative regulation of apoptotic process involved in outflow tract morphogenesis, negative regulation of cold-induced thermogenesis, blood vessel diameter maintenance, positive regulation of cell migration involved in sprouting angiogenesis, glomerular mesangial cell development, glomerular visceral epithelial cell differentiation, glomerular endothelium development, cardiac muscle cell proliferation, ventricular cardiac muscle tissue morphogenesis, artery morphogenesis, embryonic viscerocranium morphogenesis, paraxial mesodermal cell fate commitment, vascular endothelial growth factor receptor signaling pathway, regulation of organ growth, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, camera-type eye development, positive regulation of vascular wound healing, embryonic heart tube development, positive regulation of cell adhesion mediated by integrin, collagen fibril organization, cell differentiation, neural crest cell development, positive regulation of endothelial cell migration, response to hormone, anatomical structure morphogenesis, insulin receptor signaling pathway, heart development, mesoderm development, Notch signaling pathway, regulation of transcription by RNA polymerase II, blood vessel remodeling, lymphangiogenesis, somitogenesis, ureteric bud development, metanephros development, branching involved in blood vessel morphogenesis, ossification, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 1 0 0 ENSG00000176695 chr19 107104 117102 + OR4F17 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81099 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176697 chr11 27654893 27722058 - BDNF protein_coding This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]. 627 GO:0098794, GO:0048471, GO:0030425, GO:0030424, GO:0030141, GO:0016607, GO:0008021, GO:0005739, GO:0005737, GO:0005615, GO:0005576, postsynapse, perinuclear region of cytoplasm, dendrite, axon, secretory granule, nuclear speck, synaptic vesicle, mitochondrion, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005163, growth factor activity, protein binding, nerve growth factor receptor binding, GO:2001234, GO:2000008, GO:1903997, GO:1900122, GO:0099083, GO:0097484, GO:0061193, GO:0060080, GO:0051965, GO:0050804, GO:0048839, GO:0048812, GO:0048675, GO:0048672, GO:0048672, GO:0048668, GO:0048167, GO:0048011, GO:0046668, GO:0045664, GO:0043524, GO:0042493, GO:0042490, GO:0038180, GO:0033138, GO:0032229, GO:0031550, GO:0031547, GO:0021675, GO:0016358, GO:0014047, GO:0010976, GO:0010832, GO:0008038, GO:0007631, GO:0007623, GO:0007613, GO:0007422, GO:0007416, GO:0007412, GO:0007411, GO:0007406, GO:0007399, GO:0007214, GO:0007202, GO:0007169, GO:0001662, GO:0001657, negative regulation of apoptotic signaling pathway, regulation of protein localization to cell surface, positive regulation of non-membrane spanning protein tyrosine kinase activity, positive regulation of receptor binding, retrograde trans-synaptic signaling by neuropeptide, modulating synaptic transmission, dendrite extension, taste bud development, inhibitory postsynaptic potential, positive regulation of synapse assembly, modulation of chemical synaptic transmission, inner ear development, neuron projection morphogenesis, axon extension, positive regulation of collateral sprouting, positive regulation of collateral sprouting, collateral sprouting, regulation of synaptic plasticity, neurotrophin TRK receptor signaling pathway, regulation of retinal cell programmed cell death, regulation of neuron differentiation, negative regulation of neuron apoptotic process, response to drug, mechanoreceptor differentiation, nerve growth factor signaling pathway, positive regulation of peptidyl-serine phosphorylation, negative regulation of synaptic transmission, GABAergic, positive regulation of brain-derived neurotrophic factor receptor signaling pathway, brain-derived neurotrophic factor receptor signaling pathway, nerve development, dendrite development, glutamate secretion, positive regulation of neuron projection development, negative regulation of myotube differentiation, neuron recognition, feeding behavior, circadian rhythm, memory, peripheral nervous system development, synapse assembly, axon target recognition, axon guidance, negative regulation of neuroblast proliferation, nervous system development, gamma-aminobutyric acid signaling pathway, activation of phospholipase C activity, transmembrane receptor protein tyrosine kinase signaling pathway, behavioral fear response, ureteric bud development, 0 0 0 3 1 0 1 0 0 ENSG00000176700 chr15 84631451 84647478 + SCAND2P transcribed_unprocessed_pseudogene 177 190 181 214 220 250 219 201 218 ENSG00000176714 chr2 27625639 27629012 - CCDC121 protein_coding 79635 GO:0005515, protein binding, 14 11 12 12 20 6 10 13 6 ENSG00000176715 chr16 89088375 89164121 + ACSF3 protein_coding This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]. 197322 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0090409, GO:0031957, GO:0031957, GO:0031957, GO:0016878, GO:0016405, GO:0005524, GO:0005515, malonyl-CoA synthetase activity, very long-chain fatty acid-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, very long-chain fatty acid-CoA ligase activity, acid-thiol ligase activity, CoA-ligase activity, ATP binding, protein binding, GO:0090410, GO:0035338, GO:0006633, GO:0006633, GO:0006631, malonate catabolic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid biosynthetic process, fatty acid biosynthetic process, fatty acid metabolic process, 131 220 214 158 228 226 180 139 260 ENSG00000176716 chr11 7726436 7729684 + OR10AB1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176720 chr2 241551424 241574138 + BOK protein_coding The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]. 666 GO:0055038, GO:0033106, GO:0032588, GO:0031966, GO:0031901, GO:0016021, GO:0005794, GO:0005789, GO:0005783, GO:0005743, GO:0005741, GO:0005739, GO:0005737, GO:0005640, GO:0005634, recycling endosome membrane, cis-Golgi network membrane, trans-Golgi network membrane, mitochondrial membrane, early endosome membrane, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, nuclear outer membrane, nucleus, GO:0051400, GO:0046982, GO:0046982, GO:0044877, GO:0042803, GO:0042803, GO:0031625, GO:0005515, GO:0005102, BH domain binding, protein heterodimerization activity, protein heterodimerization activity, protein-containing complex binding, protein homodimerization activity, protein homodimerization activity, ubiquitin protein ligase binding, protein binding, signaling receptor binding, GO:2001244, GO:1904708, GO:1903899, GO:1902237, GO:1901382, GO:1901030, GO:1901029, GO:1900119, GO:0097192, GO:0072332, GO:0060546, GO:0051902, GO:0051480, GO:0051402, GO:0051259, GO:0048709, GO:0043524, GO:0043065, GO:0010506, GO:0008635, GO:0008630, GO:0008584, GO:0007420, GO:0006921, GO:0006919, GO:0006915, GO:0001836, positive regulation of intrinsic apoptotic signaling pathway, regulation of granulosa cell apoptotic process, positive regulation of PERK-mediated unfolded protein response, positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, regulation of chorionic trophoblast cell proliferation, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, positive regulation of execution phase of apoptosis, extrinsic apoptotic signaling pathway in absence of ligand, intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of necroptotic process, negative regulation of mitochondrial depolarization, regulation of cytosolic calcium ion concentration, neuron apoptotic process, protein complex oligomerization, oligodendrocyte differentiation, negative regulation of neuron apoptotic process, positive regulation of apoptotic process, regulation of autophagy, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, intrinsic apoptotic signaling pathway in response to DNA damage, male gonad development, brain development, cellular component disassembly involved in execution phase of apoptosis, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, release of cytochrome c from mitochondria, 0 1 0 10 0 7 2 0 4 ENSG00000176723 chr16 31432593 31443160 - ZNF843 protein_coding 283933 GO:0046872, GO:0005515, metal ion binding, protein binding, 0 0 1 6 2 3 0 1 0 ENSG00000176728 chrY 18872501 19077416 - TTTY14 lincRNA 83869 1 2 3 0 0 2 1 2 5 ENSG00000176731 chr8 85214076 85220421 - C8orf59 protein_coding 401466 GO:0005730, GO:0005730, nucleolus, nucleolus, GO:0042254, GO:0042254, ribosome biogenesis, ribosome biogenesis, 51 34 39 73 45 57 102 51 50 ENSG00000176732 chr2 24115371 24123477 - PFN4 protein_coding 375189 GO:0005938, GO:0005856, cell cortex, cytoskeleton, GO:0008289, GO:0003785, lipid binding, actin monomer binding, GO:0042989, sequestering of actin monomers, 1 0 0 0 1 0 1 0 4 ENSG00000176742 chr11 5199735 5200700 - OR51V1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 283111 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176746 chrX 26192440 26195646 + MAGEB6 protein_coding This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]. 158809 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000176748 chr11 5177714 5178664 - OR52Z1 unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 283110 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176749 chr17 32486619 32491256 + CDK5R1 protein_coding The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]. 8851 GO:0098793, GO:0048471, GO:0043292, GO:0043231, GO:0043204, GO:0043197, GO:0043025, GO:0043005, GO:0031594, GO:0030426, GO:0030425, GO:0030424, GO:0016533, GO:0016020, GO:0014069, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, presynapse, perinuclear region of cytoplasm, contractile fiber, intracellular membrane-bounded organelle, perikaryon, dendritic spine, neuronal cell body, neuron projection, neuromuscular junction, growth cone, dendrite, axon, protein kinase 5 complex, membrane, postsynaptic density, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0061575, GO:0051015, GO:0048487, GO:0046875, GO:0045296, GO:0043539, GO:0043539, GO:0043014, GO:0035255, GO:0030295, GO:0019901, GO:0016301, GO:0005515, GO:0005509, GO:0004672, GO:0002020, cyclin-dependent protein serine/threonine kinase activator activity, actin filament binding, beta-tubulin binding, ephrin receptor binding, cadherin binding, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, alpha-tubulin binding, ionotropic glutamate receptor binding, protein kinase activator activity, protein kinase binding, kinase activity, protein binding, calcium ion binding, protein kinase activity, protease binding, GO:1901796, GO:0090314, GO:0071158, GO:0061001, GO:0048511, GO:0048013, GO:0045892, GO:0045737, GO:0045664, GO:0043525, GO:0042501, GO:0035235, GO:0032956, GO:0032147, GO:0031175, GO:0031175, GO:0031116, GO:0030517, GO:0030182, GO:0021819, GO:0021766, GO:0021722, GO:0021549, GO:0018107, GO:0018105, GO:0016241, GO:0009792, GO:0007420, GO:0007420, GO:0007413, GO:0007411, GO:0007213, GO:0007158, GO:0001764, GO:0000226, GO:0000079, regulation of signal transduction by p53 class mediator, positive regulation of protein targeting to membrane, positive regulation of cell cycle arrest, regulation of dendritic spine morphogenesis, rhythmic process, ephrin receptor signaling pathway, negative regulation of transcription, DNA-templated, positive regulation of cyclin-dependent protein serine/threonine kinase activity, regulation of neuron differentiation, positive regulation of neuron apoptotic process, serine phosphorylation of STAT protein, ionotropic glutamate receptor signaling pathway, regulation of actin cytoskeleton organization, activation of protein kinase activity, neuron projection development, neuron projection development, positive regulation of microtubule polymerization, negative regulation of axon extension, neuron differentiation, layer formation in cerebral cortex, hippocampus development, superior olivary nucleus maturation, cerebellum development, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, regulation of macroautophagy, embryo development ending in birth or egg hatching, brain development, brain development, axonal fasciculation, axon guidance, G protein-coupled acetylcholine receptor signaling pathway, neuron cell-cell adhesion, neuron migration, microtubule cytoskeleton organization, regulation of cyclin-dependent protein serine/threonine kinase activity, 70 47 90 16 10 26 25 28 15 ENSG00000176752 chr11 5170351 5171296 - OR51A1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176753 chr15 40250664 40252969 - C15orf56 processed_transcript 644809 0 0 0 0 0 0 1 0 0 ENSG00000176754 chr1 204032447 204041265 - LINC00303 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000176761 chr19 44467641 44473227 + ZNF285B unprocessed_pseudogene 0 0 5 2 0 4 2 2 2 ENSG00000176769 chr10 131092391 131311721 - TCERG1L protein_coding 256536 GO:0005634, nucleus, GO:0070063, GO:0003712, RNA polymerase binding, transcription coregulator activity, GO:1903506, regulation of nucleic acid-templated transcription, 0 0 0 0 0 0 0 0 0 ENSG00000176771 chr2 132671799 133568463 - NCKAP5 protein_coding 344148 GO:0035371, GO:0005575, microtubule plus-end, cellular_component, GO:0008150, GO:0007019, GO:0001578, biological_process, microtubule depolymerization, microtubule bundle formation, 0 0 0 1 2 0 0 0 0 ENSG00000176774 chrX 26138343 26140735 + MAGEB18 protein_coding 286514 GO:0005737, cytoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000176782 chr8 7836471 7841242 + DEFB104A protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]. 140596 GO:0005576, extracellular region, GO:0042056, chemoattractant activity, GO:1904628, GO:0050918, GO:0050830, GO:0050830, GO:0050829, GO:0045087, GO:0002548, cellular response to phorbol 13-acetate 12-myristate, positive chemotaxis, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000176783 chr5 179550558 179610026 + RUFY1 protein_coding This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 80230 GO:0043231, GO:0043231, GO:0031901, GO:0016607, GO:0005829, GO:0005829, GO:0005768, GO:0005737, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, early endosome membrane, nuclear speck, cytosol, cytosol, endosome, cytoplasm, GO:0046872, GO:0042169, GO:0017124, GO:0008289, GO:0005515, metal ion binding, SH2 domain binding, SH3 domain binding, lipid binding, protein binding, GO:0030100, GO:0030100, GO:0015031, GO:0007264, GO:0006897, GO:0006661, regulation of endocytosis, regulation of endocytosis, protein transport, small GTPase mediated signal transduction, endocytosis, phosphatidylinositol biosynthetic process, 441 516 447 284 448 268 295 380 229 ENSG00000176787 chr11 5058650 5059627 - OR52E2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119678 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176788 chr5 17065598 17276843 + BASP1 protein_coding This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]. 10409 GO:0070062, GO:0031982, GO:0030426, GO:0030054, GO:0016607, GO:0016605, GO:0016363, GO:0008180, GO:0005886, GO:0005856, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0000785, extracellular exosome, vesicle, growth cone, cell junction, nuclear speck, PML body, nuclear matrix, COP9 signalosome, plasma membrane, cytoskeleton, cytoplasm, cytoplasm, nucleus, nucleus, chromatin, GO:0019904, GO:0005515, GO:0003714, GO:0003714, GO:0000976, GO:0000976, protein domain specific binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001076, GO:0072112, GO:0072075, GO:0060539, GO:0060421, GO:0060231, GO:0045892, GO:0045892, GO:0045892, GO:0021762, GO:0008406, GO:0007356, positive regulation of metanephric ureteric bud development, glomerular visceral epithelial cell differentiation, metanephric mesenchyme development, diaphragm development, positive regulation of heart growth, mesenchymal to epithelial transition, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, substantia nigra development, gonad development, thorax and anterior abdomen determination, 15389 10885 16729 4629 6811 6238 5915 6973 6257 ENSG00000176797 chr8 7881204 7882664 + DEFB103A protein_coding Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, an antibiotic peptide which is induced by bacteria and interferon gamma, and which displays antimicrobial activity against S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans. [provided by RefSeq, Oct 2014]. 414325 GO:0005796, GO:0005615, GO:0005615, GO:0005576, Golgi lumen, extracellular space, extracellular space, extracellular region, GO:0042056, GO:0031731, GO:0005515, chemoattractant activity, CCR6 chemokine receptor binding, protein binding, GO:0060326, GO:0051873, GO:0050918, GO:0050830, GO:0050829, GO:0042742, GO:0042742, GO:0031640, GO:0019730, cell chemotaxis, killing by host of symbiont cells, positive chemotaxis, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to bacterium, defense response to bacterium, killing of cells of other organism, antimicrobial humoral response, 0 0 0 0 0 0 0 0 0 ENSG00000176798 chr11 4994851 5005536 + OR51L1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119682 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 3 0 0 0 0 0 ENSG00000176809 chr17 64854312 64919480 - LRRC37A3 protein_coding 374819 GO:0016021, integral component of membrane, 8 15 12 28 19 13 24 17 13 ENSG00000176812 chrX 25194381 25195207 - AC112778.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176826 chr7 55681074 55713252 - FKBP9P1 transcribed_unprocessed_pseudogene 360132 1 0 1 0 0 0 0 0 0 ENSG00000176834 chr12 118063593 118136026 - VSIG10 protein_coding 54621 GO:0005911, GO:0005887, cell-cell junction, integral component of plasma membrane, GO:0050839, cell adhesion molecule binding, GO:0098609, cell-cell adhesion, 8 40 28 48 68 62 21 51 46 ENSG00000176840 chr19 4769140 4772533 + MIR7-3HG lincRNA 284424 0 1 0 0 0 5 0 0 0 ENSG00000176842 chr16 54930862 54934485 + IRX5 protein_coding This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 10265 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005499, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, vitamin D binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060040, GO:0050896, GO:0048701, GO:0048468, GO:0042551, GO:0030182, GO:0008406, GO:0007601, GO:0006357, GO:0002027, retinal bipolar neuron differentiation, response to stimulus, embryonic cranial skeleton morphogenesis, cell development, neuron maturation, neuron differentiation, gonad development, visual perception, regulation of transcription by RNA polymerase II, regulation of heart rate, 0 0 2 0 0 0 0 0 3 ENSG00000176845 chr17 83079691 83095119 + METRNL protein_coding 284207 GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, GO:0005179, GO:0005179, GO:0003674, hormone activity, hormone activity, molecular_function, GO:0097009, GO:0097009, GO:0090336, GO:0090336, GO:0050873, GO:0050728, GO:0045444, GO:0014850, GO:0009409, GO:0007165, energy homeostasis, energy homeostasis, positive regulation of brown fat cell differentiation, positive regulation of brown fat cell differentiation, brown fat cell differentiation, negative regulation of inflammatory response, fat cell differentiation, response to muscle activity, response to cold, signal transduction, 92 51 24 58 151 79 94 99 82 ENSG00000176853 chr8 123768456 123815452 + FAM91A1 protein_coding 157769 GO:0031410, GO:0031410, GO:0005802, GO:0005802, cytoplasmic vesicle, cytoplasmic vesicle, trans-Golgi network, trans-Golgi network, GO:0005515, protein binding, GO:0099041, GO:0099041, GO:0006886, GO:0006886, vesicle tethering to Golgi, vesicle tethering to Golgi, intracellular protein transport, intracellular protein transport, 2936 2942 3604 1473 2048 2065 1791 1590 1714 ENSG00000176855 chr1 182959074 182960405 - KRT18P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176857 chr5 109051315 109052457 - GJA1P1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000176868 chr9 131497479 131500191 - AL358781.1 antisense 134 146 182 171 190 242 201 111 166 ENSG00000176871 chr12 118032694 118062430 - WSB2 protein_coding This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]. 55884 GO:0005829, cytosol, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 168 197 219 269 271 231 219 172 129 ENSG00000176882 chr13 49620314 49620646 + AL135901.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176884 chr9 137138390 137168762 + GRIN1 protein_coding The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]. 2902 GO:0099061, GO:0098978, GO:0097060, GO:0060076, GO:0045211, GO:0045202, GO:0045202, GO:0043197, GO:0043195, GO:0043083, GO:0043005, GO:0043005, GO:0030672, GO:0030425, GO:0017146, GO:0017146, GO:0017146, GO:0014069, GO:0009986, GO:0008021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005783, GO:0005737, integral component of postsynaptic density membrane, glutamatergic synapse, synaptic membrane, excitatory synapse, postsynaptic membrane, synapse, synapse, dendritic spine, terminal bouton, synaptic cleft, neuron projection, neuron projection, synaptic vesicle membrane, dendrite, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, postsynaptic density, cell surface, synaptic vesicle, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, cytoplasm, GO:1904315, GO:0044877, GO:0042165, GO:0038023, GO:0022849, GO:0016595, GO:0016594, GO:0016594, GO:0015276, GO:0005516, GO:0005515, GO:0005509, GO:0005262, GO:0005102, GO:0004972, GO:0004972, GO:0004972, GO:0004972, GO:0004972, GO:0004972, GO:0001540, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, protein-containing complex binding, neurotransmitter binding, signaling receptor activity, glutamate-gated calcium ion channel activity, glutamate binding, glycine binding, glycine binding, ligand-gated ion channel activity, calmodulin binding, protein binding, calcium ion binding, calcium channel activity, signaling receptor binding, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, amyloid-beta binding, GO:2001056, GO:2000463, GO:2000310, GO:1905429, GO:1904646, GO:1903539, GO:1903428, GO:0098976, GO:0097553, GO:0060179, GO:0060134, GO:0060079, GO:0055074, GO:0051963, GO:0051290, GO:0050770, GO:0048814, GO:0048169, GO:0048167, GO:0048013, GO:0045944, GO:0045471, GO:0043576, GO:0043524, GO:0043278, GO:0043065, GO:0042391, GO:0042391, GO:0035249, GO:0035235, GO:0035235, GO:0035235, GO:0035176, GO:0021987, GO:0021586, GO:0019722, GO:0019233, GO:0018964, GO:0010524, GO:0008542, GO:0008355, GO:0008344, GO:0007616, GO:0007420, GO:0007268, GO:0006812, GO:0001975, GO:0001967, GO:0001661, GO:0000165, positive regulation of cysteine-type endopeptidase activity, positive regulation of excitatory postsynaptic potential, regulation of NMDA receptor activity, response to glycine, cellular response to amyloid-beta, protein localization to postsynaptic membrane, positive regulation of reactive oxygen species biosynthetic process, excitatory chemical synaptic transmission, calcium ion transmembrane import into cytosol, male mating behavior, prepulse inhibition, excitatory postsynaptic potential, calcium ion homeostasis, regulation of synapse assembly, protein heterotetramerization, regulation of axonogenesis, regulation of dendrite morphogenesis, regulation of long-term neuronal synaptic plasticity, regulation of synaptic plasticity, ephrin receptor signaling pathway, positive regulation of transcription by RNA polymerase II, response to ethanol, regulation of respiratory gaseous exchange, negative regulation of neuron apoptotic process, response to morphine, positive regulation of apoptotic process, regulation of membrane potential, regulation of membrane potential, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, ionotropic glutamate receptor signaling pathway, ionotropic glutamate receptor signaling pathway, social behavior, cerebral cortex development, pons maturation, calcium-mediated signaling, sensory perception of pain, propylene metabolic process, positive regulation of calcium ion transport into cytosol, visual learning, olfactory learning, adult locomotory behavior, long-term memory, brain development, chemical synaptic transmission, cation transport, response to amphetamine, suckling behavior, conditioned taste aversion, MAPK cascade, 0 0 1 0 0 0 0 0 0 ENSG00000176887 chr2 5692667 5701385 + SOX11 protein_coding This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]. 6664 GO:0005654, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, GO:0003700, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001111, GO:2000678, GO:2000648, GO:0072395, GO:0061386, GO:0061303, GO:0061053, GO:0061029, GO:0060563, GO:0060548, GO:0060425, GO:0060412, GO:0060253, GO:0060174, GO:0060023, GO:0060022, GO:0050769, GO:0050672, GO:0048704, GO:0048557, GO:0048485, GO:0046887, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045778, GO:0045669, GO:0045666, GO:0035914, GO:0035332, GO:0030513, GO:0030182, GO:0030182, GO:0030154, GO:0021782, GO:0021510, GO:0017015, GO:0014032, GO:0014009, GO:0014003, GO:0010629, GO:0010628, GO:0009653, GO:0008284, GO:0006355, GO:0003357, GO:0003211, GO:0003151, GO:0002089, GO:0001841, GO:0001822, GO:0001501, GO:0000122, GO:0000122, positive regulation of lens epithelial cell proliferation, negative regulation of transcription regulatory region DNA binding, positive regulation of stem cell proliferation, signal transduction involved in cell cycle checkpoint, closure of optic fissure, cornea development in camera-type eye, somite development, eyelid development in camera-type eye, neuroepithelial cell differentiation, negative regulation of cell death, lung morphogenesis, ventricular septum morphogenesis, negative regulation of glial cell proliferation, limb bud formation, soft palate development, hard palate development, positive regulation of neurogenesis, negative regulation of lymphocyte proliferation, embryonic skeletal system morphogenesis, embryonic digestive tract morphogenesis, sympathetic nervous system development, positive regulation of hormone secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of ossification, positive regulation of osteoblast differentiation, positive regulation of neuron differentiation, skeletal muscle cell differentiation, positive regulation of hippo signaling, positive regulation of BMP signaling pathway, neuron differentiation, neuron differentiation, cell differentiation, glial cell development, spinal cord development, regulation of transforming growth factor beta receptor signaling pathway, neural crest cell development, glial cell proliferation, oligodendrocyte development, negative regulation of gene expression, positive regulation of gene expression, anatomical structure morphogenesis, positive regulation of cell population proliferation, regulation of transcription, DNA-templated, noradrenergic neuron differentiation, cardiac ventricle formation, outflow tract morphogenesis, lens morphogenesis in camera-type eye, neural tube formation, kidney development, skeletal system development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000176890 chr18 657604 673578 + TYMS protein_coding Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017]. 7298 GO:0005829, GO:0005829, GO:0005759, GO:0005743, GO:0005739, GO:0005739, GO:0005737, GO:0005730, GO:0005634, cytosol, cytosol, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, mitochondrion, cytoplasm, nucleolus, nucleus, GO:1990825, GO:0042803, GO:0008144, GO:0005542, GO:0004799, GO:0004799, GO:0004799, GO:0000900, sequence-specific mRNA binding, protein homodimerization activity, drug binding, folic acid binding, thymidylate synthase activity, thymidylate synthase activity, thymidylate synthase activity, translation repressor activity, mRNA regulatory element binding, GO:0097421, GO:0071897, GO:0060574, GO:0051593, GO:0051384, GO:0051216, GO:0048589, GO:0046683, GO:0045471, GO:0042493, GO:0035999, GO:0034097, GO:0033189, GO:0032570, GO:0032259, GO:0019860, GO:0019048, GO:0017148, GO:0015949, GO:0009636, GO:0007623, GO:0007568, GO:0006235, GO:0006231, GO:0006231, GO:0000083, liver regeneration, DNA biosynthetic process, intestinal epithelial cell maturation, response to folic acid, response to glucocorticoid, cartilage development, developmental growth, response to organophosphorus, response to ethanol, response to drug, tetrahydrofolate interconversion, response to cytokine, response to vitamin A, response to progesterone, methylation, uracil metabolic process, modulation by virus of host process, negative regulation of translation, nucleobase-containing small molecule interconversion, response to toxic substance, circadian rhythm, aging, dTTP biosynthetic process, dTMP biosynthetic process, dTMP biosynthetic process, regulation of transcription involved in G1/S transition of mitotic cell cycle, 4 2 3 14 7 8 12 5 9 ENSG00000176893 chr11 4912588 4919350 - OR51G2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81282 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176894 chr12 132687606 132704991 + PXMP2 protein_coding 5827 GO:0032991, GO:0016021, GO:0016020, GO:0005778, GO:0005739, GO:0005737, GO:0005737, protein-containing complex, integral component of membrane, membrane, peroxisomal membrane, mitochondrion, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0008150, biological_process, 0 0 0 3 0 0 0 2 1 ENSG00000176895 chr11 4903783 4909462 + OR51A7 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119687 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176896 chrX 13653189 13681964 + TCEANC protein_coding 170082 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006351, transcription, DNA-templated, 49 31 79 34 47 10 42 30 27 ENSG00000176900 chr11 4881819 4882883 + OR51T1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401665 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176903 chr14 73711783 73714372 - PNMA1 protein_coding This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014]. 9240 GO:0005737, GO:0005730, cytoplasm, nucleolus, GO:0005515, protein binding, GO:0043065, GO:0002437, positive regulation of apoptotic process, inflammatory response to antigenic stimulus, 52 46 103 58 30 98 61 21 64 ENSG00000176904 chr11 4859610 4863652 - OR51H1 transcribed_unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401663 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176907 chr8 40153455 40155308 + TCIM protein_coding This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011]. 56892 GO:0016607, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, nuclear speck, plasma membrane, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0005112, GO:0005112, protein binding, Notch binding, Notch binding, GO:1903706, GO:1902806, GO:1901224, GO:1900020, GO:0045746, GO:0045746, GO:0043620, GO:0043066, GO:0034605, GO:0010739, GO:0006915, GO:0002264, GO:0002264, regulation of hemopoiesis, regulation of cell cycle G1/S phase transition, positive regulation of NIK/NF-kappaB signaling, positive regulation of protein kinase C activity, negative regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, regulation of DNA-templated transcription in response to stress, negative regulation of apoptotic process, cellular response to heat, positive regulation of protein kinase A signaling, apoptotic process, endothelial cell activation involved in immune response, endothelial cell activation involved in immune response, 0 0 0 0 0 0 0 0 0 ENSG00000176909 chr19 48712742 48719721 - MAMSTR protein_coding 284358 GO:0005634, nucleus, GO:0051059, GO:0003712, GO:0001085, NF-kappaB binding, transcription coregulator activity, RNA polymerase II transcription factor binding, GO:0045944, GO:0010831, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of myotube differentiation, regulation of transcription by RNA polymerase II, 0 1 1 3 1 0 4 0 5 ENSG00000176912 chr18 641320 658340 - TYMSOS bidirectional_promoter_lncRNA 494514 GO:0005515, protein binding, 1 0 0 0 0 0 7 0 0 ENSG00000176915 chr12 132725503 132761888 - ANKLE2 protein_coding This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]. 23141 GO:0030176, GO:0016020, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0051721, GO:0051721, GO:0019888, GO:0005515, protein phosphatase 2A binding, protein phosphatase 2A binding, protein phosphatase regulator activity, protein binding, GO:0051301, GO:0050790, GO:0043666, GO:0043066, GO:0042326, GO:0042326, GO:0035307, GO:0035307, GO:0007417, GO:0007084, GO:0007084, cell division, regulation of catalytic activity, regulation of phosphoprotein phosphatase activity, negative regulation of apoptotic process, negative regulation of phosphorylation, negative regulation of phosphorylation, positive regulation of protein dephosphorylation, positive regulation of protein dephosphorylation, central nervous system development, mitotic nuclear envelope reassembly, mitotic nuclear envelope reassembly, 478 609 734 483 728 768 460 613 655 ENSG00000176919 chr9 136945185 136946975 + C8G protein_coding The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011]. 733 GO:0072562, GO:0070062, GO:0005579, GO:0005576, blood microparticle, extracellular exosome, membrane attack complex, extracellular region, GO:0044877, GO:0019841, GO:0005515, GO:0001848, protein-containing complex binding, retinol binding, protein binding, complement binding, GO:0030449, GO:0019835, GO:0006958, GO:0006957, regulation of complement activation, cytolysis, complement activation, classical pathway, complement activation, alternative pathway, 0 1 1 0 1 2 0 1 3 ENSG00000176920 chr19 48695971 48705950 + FUT2 protein_coding The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 2524 GO:0070062, GO:0032580, GO:0016021, GO:0005794, extracellular exosome, Golgi cisterna membrane, integral component of membrane, Golgi apparatus, GO:0031127, GO:0008417, GO:0008107, GO:0008107, GO:0005515, alpha-(1,2)-fucosyltransferase activity, fucosyltransferase activity, galactoside 2-alpha-L-fucosyltransferase activity, galactoside 2-alpha-L-fucosyltransferase activity, protein binding, GO:0042355, GO:0036065, GO:0036065, GO:0030155, GO:0006664, GO:0006486, GO:0006486, GO:0006486, GO:0005975, GO:0001936, L-fucose catabolic process, fucosylation, fucosylation, regulation of cell adhesion, glycolipid metabolic process, protein glycosylation, protein glycosylation, protein glycosylation, carbohydrate metabolic process, regulation of endothelial cell proliferation, 1 1 0 0 0 0 1 0 0 ENSG00000176922 chr11 4847489 4849238 - OR51S1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119692 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176923 chr19 14927052 14928060 + OR7A15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176925 chr11 4821321 4822456 + OR51F2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119694 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000176927 chr17 29929200 30108452 + EFCAB5 protein_coding 374786 GO:0005509, calcium ion binding, 11 19 19 20 15 13 13 13 26 ENSG00000176928 chr5 75025346 75030899 - GCNT4 protein_coding 51301 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008109, GO:0003829, N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity, GO:0060993, GO:0048872, GO:0048729, GO:0042403, GO:0016266, GO:0006493, GO:0005975, GO:0002121, kidney morphogenesis, homeostasis of number of cells, tissue morphogenesis, thyroid hormone metabolic process, O-glycan processing, protein O-linked glycosylation, carbohydrate metabolic process, inter-male aggressive behavior, 26 12 38 48 20 44 47 8 36 ENSG00000176933 chr6 28217643 28218634 - TOB2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176945 chr3 195720882 195741123 + MUC20 protein_coding This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]. 200958 GO:0031528, GO:0016324, GO:0009925, GO:0005886, GO:0005796, GO:0005576, microvillus membrane, apical plasma membrane, basal plasma membrane, plasma membrane, Golgi lumen, extracellular region, GO:0042802, identical protein binding, GO:0048012, GO:0016266, GO:0002223, GO:0000187, hepatocyte growth factor receptor signaling pathway, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000176946 chr2 241584405 241637449 - THAP4 protein_coding 51078 GO:0005575, cellular_component, GO:0070026, GO:0062213, GO:0046872, GO:0042802, GO:0020037, GO:0005515, GO:0003677, nitric oxide binding, peroxynitrite isomerase activity, metal ion binding, identical protein binding, heme binding, protein binding, DNA binding, GO:0042126, GO:0006570, nitrate metabolic process, tyrosine metabolic process, 64 75 60 57 61 101 64 56 33 ENSG00000176951 chr11 4786754 4787705 + OR51N1P unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000176953 chr16 28950807 28967097 + NFATC2IP protein_coding 84901 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0045944, GO:0001816, positive regulation of transcription by RNA polymerase II, cytokine production, 287 295 388 411 432 517 422 290 353 ENSG00000176956 chr8 143157914 143160711 - LY6H protein_coding 4062 GO:0045202, GO:0031225, GO:0005886, GO:0005886, GO:0005576, synapse, anchored component of membrane, plasma membrane, plasma membrane, extracellular region, GO:0033130, GO:0030550, GO:0005515, acetylcholine receptor binding, acetylcholine receptor inhibitor activity, protein binding, GO:2000272, GO:0095500, GO:0009887, GO:0007399, negative regulation of signaling receptor activity, acetylcholine receptor signaling pathway, animal organ morphogenesis, nervous system development, 0 0 0 0 0 0 0 0 0 ENSG00000176970 chrX 148464708 148465428 + RPL7L1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000176971 chr11 26994184 26996121 + FIBIN protein_coding 387758 GO:0005794, GO:0005783, GO:0005576, GO:0005575, Golgi apparatus, endoplasmic reticulum, extracellular region, cellular_component, GO:0042803, GO:0003674, protein homodimerization activity, molecular_function, GO:0071548, GO:0070528, GO:0010042, GO:0008150, response to dexamethasone, protein kinase C signaling, response to manganese ion, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000176973 chr11 65572349 65574198 + FAM89B protein_coding 23625 GO:0030027, GO:0030027, GO:0005737, GO:0005737, lamellipodium, lamellipodium, cytoplasm, cytoplasm, GO:0001222, GO:0001222, transcription corepressor binding, transcription corepressor binding, GO:0060392, GO:0060392, GO:0030512, GO:0030512, GO:0030335, GO:0030335, GO:0030010, GO:0030010, negative regulation of SMAD protein signal transduction, negative regulation of SMAD protein signal transduction, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of cell migration, positive regulation of cell migration, establishment of cell polarity, establishment of cell polarity, 82 75 112 24 43 32 33 61 33 ENSG00000176974 chr17 18327860 18363563 - SHMT1 protein_coding This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 6470 GO:0070062, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0070905, GO:0070905, GO:0050897, GO:0048027, GO:0048027, GO:0042803, GO:0042803, GO:0042802, GO:0036094, GO:0030170, GO:0030170, GO:0008732, GO:0008270, GO:0005515, GO:0004372, GO:0004372, GO:0000900, GO:0000900, serine binding, serine binding, cobalt ion binding, mRNA 5'-UTR binding, mRNA 5'-UTR binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, small molecule binding, pyridoxal phosphate binding, pyridoxal phosphate binding, L-allo-threonine aldolase activity, zinc ion binding, protein binding, glycine hydroxymethyltransferase activity, glycine hydroxymethyltransferase activity, translation repressor activity, mRNA regulatory element binding, translation repressor activity, mRNA regulatory element binding, GO:1990830, GO:1904482, GO:0051289, GO:0051289, GO:0046655, GO:0046655, GO:0046655, GO:0046653, GO:0046653, GO:0045329, GO:0035999, GO:0035999, GO:0035999, GO:0019264, GO:0017148, GO:0009113, GO:0009113, GO:0006730, GO:0006565, GO:0006565, GO:0006563, GO:0006544, GO:0006231, cellular response to leukemia inhibitory factor, cellular response to tetrahydrofolate, protein homotetramerization, protein homotetramerization, folic acid metabolic process, folic acid metabolic process, folic acid metabolic process, tetrahydrofolate metabolic process, tetrahydrofolate metabolic process, carnitine biosynthetic process, tetrahydrofolate interconversion, tetrahydrofolate interconversion, tetrahydrofolate interconversion, glycine biosynthetic process from serine, negative regulation of translation, purine nucleobase biosynthetic process, purine nucleobase biosynthetic process, one-carbon metabolic process, L-serine catabolic process, L-serine catabolic process, L-serine metabolic process, glycine metabolic process, dTMP biosynthetic process, 25 24 41 93 118 143 78 83 83 ENSG00000176978 chr9 137110542 137115177 - DPP7 protein_coding The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008]. 29952 GO:0070062, GO:0043231, GO:0035578, GO:0031982, GO:0031982, GO:0005829, GO:0005794, GO:0005576, extracellular exosome, intracellular membrane-bounded organelle, azurophil granule lumen, vesicle, vesicle, cytosol, Golgi apparatus, extracellular region, GO:0008239, GO:0008236, dipeptidyl-peptidase activity, serine-type peptidase activity, GO:0043312, GO:0006508, neutrophil degranulation, proteolysis, 79 84 146 295 194 396 208 157 192 ENSG00000176979 chr4 165016458 165041744 + TRIM60 protein_coding The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Pseudogenes of this gene are located on more than six chromosomes including chromosome 4. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]. 166655 GO:0005737, cytoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000176984 chr11 120168977 120171679 + AP000679.1 antisense 107984399 0 0 0 0 0 0 0 0 0 ENSG00000176986 chr10 73744384 73772161 + SEC24C protein_coding The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 9632 GO:0070971, GO:0030127, GO:0030127, GO:0030127, GO:0012507, GO:0005829, GO:0005829, GO:0005789, GO:0000139, endoplasmic reticulum exit site, COPII vesicle coat, COPII vesicle coat, COPII vesicle coat, ER to Golgi transport vesicle membrane, cytosol, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0008270, GO:0008270, GO:0005515, GO:0000149, GO:0000149, zinc ion binding, zinc ion binding, protein binding, SNARE binding, SNARE binding, GO:0090110, GO:0090110, GO:0048208, GO:0019886, GO:0006888, GO:0006888, GO:0006888, GO:0006886, GO:0002474, GO:0001701, COPII-coated vesicle cargo loading, COPII-coated vesicle cargo loading, COPII vesicle coating, antigen processing and presentation of exogenous peptide antigen via MHC class II, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, antigen processing and presentation of peptide antigen via MHC class I, in utero embryonic development, 1140 1392 1428 687 924 720 709 689 733 ENSG00000176988 chrX 147981329 148026667 + FMR1NB protein_coding 158521 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000176994 chr17 18315310 18328055 + SMCR8 protein_coding 140775 GO:1990316, GO:1990316, GO:0032045, GO:0032045, GO:0005737, GO:0005654, GO:0000785, Atg1/ULK1 kinase complex, Atg1/ULK1 kinase complex, guanyl-nucleotide exchange factor complex, guanyl-nucleotide exchange factor complex, cytoplasm, nucleoplasm, chromatin, GO:0019901, GO:0005515, GO:0005085, GO:0005085, GO:0004860, protein kinase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, protein kinase inhibitor activity, GO:1903432, GO:1902902, GO:1901098, GO:0032008, GO:0016242, GO:0010629, GO:0010506, GO:0006914, GO:0006469, regulation of TORC1 signaling, negative regulation of autophagosome assembly, positive regulation of autophagosome maturation, positive regulation of TOR signaling, negative regulation of macroautophagy, negative regulation of gene expression, regulation of autophagy, autophagy, negative regulation of protein kinase activity, 1569 1732 1917 3313 4544 4851 3679 3564 3208 ENSG00000176998 chr6 29791753 29792750 - HCG4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000177000 chr1 11785723 11806920 - MTHFR protein_coding The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]. 4524 GO:0045202, GO:0005829, GO:0005829, synapse, cytosol, cytosol, GO:0072341, GO:0071949, GO:0050661, GO:0050660, GO:0044877, GO:0004489, GO:0004489, GO:0004489, GO:0004489, modified amino acid binding, FAD binding, NADP binding, flavin adenine dinucleotide binding, protein-containing complex binding, methylenetetrahydrofolate reductase (NAD(P)H) activity, methylenetetrahydrofolate reductase (NAD(P)H) activity, methylenetetrahydrofolate reductase (NAD(P)H) activity, methylenetetrahydrofolate reductase (NAD(P)H) activity, GO:0070829, GO:0070555, GO:0055114, GO:0051593, GO:0050667, GO:0046655, GO:0046500, GO:0043200, GO:0042493, GO:0035999, GO:0035999, GO:0035999, GO:0035999, GO:0035999, GO:0033274, GO:0031060, GO:0009086, GO:0006555, GO:0001843, GO:0001843, GO:0001666, heterochromatin maintenance, response to interleukin-1, oxidation-reduction process, response to folic acid, homocysteine metabolic process, folic acid metabolic process, S-adenosylmethionine metabolic process, response to amino acid, response to drug, tetrahydrofolate interconversion, tetrahydrofolate interconversion, tetrahydrofolate interconversion, tetrahydrofolate interconversion, tetrahydrofolate interconversion, response to vitamin B2, regulation of histone methylation, methionine biosynthetic process, methionine metabolic process, neural tube closure, neural tube closure, response to hypoxia, 350 316 353 464 528 504 528 371 368 ENSG00000177023 chr8 7470308 7475082 - DEFB104B protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]. 503618 GO:0005576, extracellular region, GO:0042056, chemoattractant activity, GO:1904628, GO:0050918, GO:0050830, GO:0050830, GO:0050829, GO:0045087, GO:0002548, cellular response to phorbol 13-acetate 12-myristate, positive chemotaxis, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000177025 chr19 57958437 57974534 - C19orf18 protein_coding 147685 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 1 5 5 5 4 6 5 4 0 ENSG00000177030 chr11 644233 706715 - DEAF1 protein_coding This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 10522 GO:0005737, GO:0005654, GO:0005634, GO:0005576, GO:0001650, GO:0000785, cytoplasm, nucleoplasm, nucleus, extracellular region, fibrillar center, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048706, GO:0045893, GO:0045892, GO:0033599, GO:0009653, GO:0007281, GO:0006366, GO:0006357, GO:0001843, GO:0000122, embryonic skeletal system development, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of mammary gland epithelial cell proliferation, anatomical structure morphogenesis, germ cell development, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, neural tube closure, negative regulation of transcription by RNA polymerase II, 59 78 97 49 78 77 67 64 61 ENSG00000177034 chr5 79976731 79991265 - MTX3 protein_coding 345778 GO:0140275, GO:0005737, GO:0001401, GO:0001401, MIB complex, cytoplasm, SAM complex, SAM complex, GO:0003674, molecular_function, GO:0015031, GO:0007007, GO:0007005, protein transport, inner mitochondrial membrane organization, mitochondrion organization, 45 19 85 48 17 94 75 17 69 ENSG00000177042 chr11 695428 705028 + TMEM80 protein_coding 283232 GO:0035869, GO:0016021, ciliary transition zone, integral component of membrane, GO:0005515, protein binding, GO:1905515, non-motile cilium assembly, 84 94 104 60 82 69 85 78 80 ENSG00000177045 chr19 45764785 45769226 - SIX5 protein_coding The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]. 147912 GO:0005737, GO:0005667, GO:0005634, GO:0000785, cytoplasm, transcription regulator complex, nucleus, chromatin, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902723, GO:0045944, GO:0007286, GO:0006357, GO:0002088, negative regulation of skeletal muscle satellite cell proliferation, positive regulation of transcription by RNA polymerase II, spermatid development, regulation of transcription by RNA polymerase II, lens development in camera-type eye, 0 0 0 0 3 4 1 0 0 ENSG00000177047 chr9 21140214 21142145 - IFNW1 protein_coding The protein encoded by this gene is an interferon and possesses antiviral activity. The encoded protein binds to the interferon alpha/beta receptor but not to the interferon gamma receptor. This intronless gene has several pseudogenes spread throughout the genome. [provided by RefSeq, Nov 2015]. 3467 GO:0005615, extracellular space, GO:0005132, GO:0005126, GO:0005125, type I interferon receptor binding, cytokine receptor binding, cytokine activity, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0009615, GO:0007050, GO:0006959, GO:0002323, GO:0002286, GO:0002250, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, response to virus, cell cycle arrest, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 1 0 0 0 0 0 0 ENSG00000177051 chr19 45710629 45730904 - FBXO46 protein_coding Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 23403 GO:0005515, protein binding, 171 202 314 126 196 174 120 144 161 ENSG00000177054 chr11 19117099 19176422 + ZDHHC13 protein_coding 54503 GO:0030660, GO:0030659, GO:0016021, GO:0016020, GO:0005783, GO:0000139, GO:0000139, Golgi-associated vesicle membrane, cytoplasmic vesicle membrane, integral component of membrane, membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0019706, GO:0016409, GO:0016409, GO:0015095, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, palmitoyltransferase activity, magnesium ion transmembrane transporter activity, GO:1903830, GO:0043123, GO:0018345, magnesium ion transmembrane transport, positive regulation of I-kappaB kinase/NF-kappaB signaling, protein palmitoylation, 152 116 213 182 163 265 203 115 205 ENSG00000177058 chr5 55625845 55773194 - SLC38A9 protein_coding 153129 GO:1905103, GO:0071986, GO:0005770, GO:0005765, GO:0005765, GO:0005764, integral component of lysosomal membrane, Ragulator complex, late endosome, lysosomal membrane, lysosomal membrane, lysosome, GO:0061459, GO:0046872, GO:0015190, GO:0015171, GO:0015171, GO:0015171, GO:0005515, L-arginine transmembrane transporter activity, metal ion binding, L-leucine transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, protein binding, GO:1903400, GO:0071230, GO:0032008, GO:0016241, GO:0015804, GO:0015803, GO:0007050, GO:0003333, GO:0003333, L-arginine transmembrane transport, cellular response to amino acid stimulus, positive regulation of TOR signaling, regulation of macroautophagy, neutral amino acid transport, branched-chain amino acid transport, cell cycle arrest, amino acid transmembrane transport, amino acid transmembrane transport, 30 19 41 49 41 69 43 33 31 ENSG00000177076 chr9 19409059 19452020 + ACER2 protein_coding The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]. 340485 GO:0030173, GO:0005794, GO:0000139, integral component of Golgi membrane, Golgi apparatus, Golgi membrane, GO:0102121, GO:0071633, GO:0071633, GO:0046872, GO:0017040, GO:0017040, ceramidase activity, dihydroceramidase activity, dihydroceramidase activity, metal ion binding, N-acylsphingosine amidohydrolase activity, N-acylsphingosine amidohydrolase activity, GO:0090285, GO:0046514, GO:0046512, GO:0046512, GO:0042981, GO:0035690, GO:0033629, GO:0032526, GO:0030330, GO:0030148, GO:0010942, GO:0010506, GO:0008284, GO:0006974, GO:0006919, GO:0001953, negative regulation of protein glycosylation in Golgi, ceramide catabolic process, sphingosine biosynthetic process, sphingosine biosynthetic process, regulation of apoptotic process, cellular response to drug, negative regulation of cell adhesion mediated by integrin, response to retinoic acid, DNA damage response, signal transduction by p53 class mediator, sphingolipid biosynthetic process, positive regulation of cell death, regulation of autophagy, positive regulation of cell population proliferation, cellular response to DNA damage stimulus, activation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cell-matrix adhesion, 3 1 3 2 2 2 2 1 0 ENSG00000177082 chr15 84639281 84654343 - WDR73 protein_coding The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 84942 GO:0032154, GO:0005829, GO:0005829, GO:0000922, GO:0000922, cleavage furrow, cytosol, cytosol, spindle pole, spindle pole, GO:0003674, molecular_function, GO:0043066, GO:0031122, GO:0031122, GO:0006997, negative regulation of apoptotic process, cytoplasmic microtubule organization, cytoplasmic microtubule organization, nucleus organization, 170 185 195 215 192 258 217 198 211 ENSG00000177084 chr12 132623753 132687365 - POLE protein_coding This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]. 5426 GO:0008622, GO:0008622, GO:0005886, GO:0005654, GO:0005654, GO:0005634, epsilon DNA polymerase complex, epsilon DNA polymerase complex, plasma membrane, nucleoplasm, nucleoplasm, nucleus, GO:0051539, GO:0008310, GO:0008270, GO:0005515, GO:0003887, GO:0003887, GO:0003682, GO:0003677, GO:0003677, GO:0000166, 4 iron, 4 sulfur cluster binding, single-stranded DNA 3'-5' exodeoxyribonuclease activity, zinc ion binding, protein binding, DNA-directed DNA polymerase activity, DNA-directed DNA polymerase activity, chromatin binding, DNA binding, DNA binding, nucleotide binding, GO:0090305, GO:0048568, GO:0045004, GO:0032201, GO:0006297, GO:0006297, GO:0006287, GO:0006287, GO:0006272, GO:0006270, GO:0006260, GO:0000731, GO:0000278, GO:0000082, GO:0000082, nucleic acid phosphodiester bond hydrolysis, embryonic organ development, DNA replication proofreading, telomere maintenance via semi-conservative replication, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA gap filling, base-excision repair, gap-filling, base-excision repair, gap-filling, leading strand elongation, DNA replication initiation, DNA replication, DNA synthesis involved in DNA repair, mitotic cell cycle, G1/S transition of mitotic cell cycle, G1/S transition of mitotic cell cycle, 80 110 140 155 110 181 140 87 125 ENSG00000177096 chr22 42074251 42079441 + PHETA2 protein_coding 150368 GO:0055037, GO:0055037, GO:0030136, GO:0005829, GO:0005802, GO:0005802, GO:0005769, GO:0005769, recycling endosome, recycling endosome, clathrin-coated vesicle, cytosol, trans-Golgi network, trans-Golgi network, early endosome, early endosome, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0042147, GO:0042147, GO:0007032, GO:0007032, GO:0001881, GO:0001881, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, endosome organization, endosome organization, receptor recycling, receptor recycling, 2 1 1 3 1 0 0 4 0 ENSG00000177098 chr11 118133377 118152888 - SCN4B protein_coding The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]. 6330 GO:0031226, GO:0014704, GO:0001518, GO:0001518, intrinsic component of plasma membrane, intercalated disc, voltage-gated sodium channel complex, voltage-gated sodium channel complex, GO:0086006, GO:0044325, GO:0017080, GO:0005515, GO:0005248, GO:0005244, voltage-gated sodium channel activity involved in cardiac muscle cell action potential, ion channel binding, sodium channel regulator activity, protein binding, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:2000649, GO:0086091, GO:0086016, GO:0086012, GO:0086002, GO:0060307, GO:0060048, GO:0035725, GO:0010765, GO:0006814, regulation of sodium ion transmembrane transporter activity, regulation of heart rate by cardiac conduction, AV node cell action potential, membrane depolarization during cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, regulation of ventricular cardiac muscle cell membrane repolarization, cardiac muscle contraction, sodium ion transmembrane transport, positive regulation of sodium ion transport, sodium ion transport, 1 1 3 0 1 5 0 1 7 ENSG00000177103 chr11 117427773 117817525 - DSCAML1 protein_coding The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]. 57453 GO:0045202, GO:0030424, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005615, synapse, axon, integral component of membrane, cell surface, plasma membrane, plasma membrane, extracellular space, GO:0098632, GO:0042803, cell-cell adhesion mediator activity, protein homodimerization activity, GO:0070593, GO:0048704, GO:0009953, GO:0007420, GO:0007417, GO:0007411, GO:0007409, GO:0007156, GO:0007156, GO:0001709, dendrite self-avoidance, embryonic skeletal system morphogenesis, dorsal/ventral pattern formation, brain development, central nervous system development, axon guidance, axonogenesis, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell fate determination, 0 0 0 0 0 0 0 0 0 ENSG00000177105 chr11 3826978 3840983 - RHOG protein_coding This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [provided by RefSeq, Aug 2011]. 391 GO:0070062, GO:0043231, GO:0042995, GO:0031410, GO:0030667, GO:0005938, GO:0005925, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005789, extracellular exosome, intracellular membrane-bounded organelle, cell projection, cytoplasmic vesicle, secretory granule membrane, cell cortex, focal adhesion, plasma membrane, plasma membrane, cytoskeleton, cytosol, endoplasmic reticulum membrane, GO:0019901, GO:0005525, GO:0005515, GO:0003924, GO:0003924, protein kinase binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1903078, GO:1902622, GO:1900027, GO:0090630, GO:0060326, GO:0051897, GO:0051056, GO:0045893, GO:0043652, GO:0043312, GO:0032956, GO:0030865, GO:0030036, GO:0030031, GO:0016601, GO:0016601, GO:0008360, GO:0008284, GO:0008045, GO:0007266, GO:0007163, GO:0007015, positive regulation of protein localization to plasma membrane, regulation of neutrophil migration, regulation of ruffle assembly, activation of GTPase activity, cell chemotaxis, positive regulation of protein kinase B signaling, regulation of small GTPase mediated signal transduction, positive regulation of transcription, DNA-templated, engulfment of apoptotic cell, neutrophil degranulation, regulation of actin cytoskeleton organization, cortical cytoskeleton organization, actin cytoskeleton organization, cell projection assembly, Rac protein signal transduction, Rac protein signal transduction, regulation of cell shape, positive regulation of cell population proliferation, motor neuron axon guidance, Rho protein signal transduction, establishment or maintenance of cell polarity, actin filament organization, 4742 4100 5834 1126 2351 1716 1613 2122 1674 ENSG00000177106 chr11 694438 727727 + EPS8L2 protein_coding This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]. 64787 GO:0070062, GO:0032991, GO:0032587, GO:0032587, GO:0032426, GO:0032421, GO:0031982, GO:0005886, GO:0005886, GO:0005829, extracellular exosome, protein-containing complex, ruffle membrane, ruffle membrane, stereocilium tip, stereocilium bundle, vesicle, plasma membrane, plasma membrane, cytosol, GO:0045296, GO:0005515, GO:0005085, GO:0005085, GO:0003779, GO:0003779, cadherin binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, actin binding, actin binding, GO:1900029, GO:1900029, GO:0035023, GO:0035023, GO:0007605, GO:0007266, GO:0007266, positive regulation of ruffle assembly, positive regulation of ruffle assembly, regulation of Rho protein signal transduction, regulation of Rho protein signal transduction, sensory perception of sound, Rho protein signal transduction, Rho protein signal transduction, 4 12 5 14 16 0 10 16 11 ENSG00000177108 chr14 77131270 77142734 - ZDHHC22 protein_coding 283576 GO:0016021, GO:0005886, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0000139, integral component of membrane, plasma membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0019706, GO:0005515, protein-cysteine S-palmitoyltransferase activity, protein binding, GO:0072659, GO:0018345, GO:0018230, GO:0006612, protein localization to plasma membrane, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 0 0 0 0 0 0 0 0 0 ENSG00000177112 chr11 10541272 10599932 + MRVI1-AS1 antisense 100129827 204 201 248 134 158 193 149 144 137 ENSG00000177119 chr12 45215987 45440404 + ANO6 protein_coding This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]. 196527 GO:0070821, GO:0070062, GO:0035579, GO:0034707, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, tertiary granule membrane, extracellular exosome, specific granule membrane, chloride channel complex, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0046872, GO:0042803, GO:0017128, GO:0005515, GO:0005254, GO:0005247, GO:0005244, GO:0005229, GO:0005229, GO:0005227, GO:0005227, GO:0005227, metal ion binding, protein homodimerization activity, phospholipid scramblase activity, protein binding, chloride channel activity, voltage-gated chloride channel activity, voltage-gated ion channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, calcium activated cation channel activity, calcium activated cation channel activity, calcium activated cation channel activity, GO:2000353, GO:1903766, GO:1902476, GO:1902476, GO:0097045, GO:0090026, GO:0070588, GO:0061591, GO:0061590, GO:0061589, GO:0060100, GO:0055085, GO:0046931, GO:0045794, GO:0043312, GO:0043065, GO:0035725, GO:0035630, GO:0035590, GO:0034767, GO:0034220, GO:0032060, GO:0030501, GO:0017121, GO:0017121, GO:0007596, GO:0006821, GO:0006812, GO:0002543, GO:0002407, positive regulation of endothelial cell apoptotic process, positive regulation of potassium ion export across plasma membrane, chloride transmembrane transport, chloride transmembrane transport, phosphatidylserine exposure on blood platelet, positive regulation of monocyte chemotaxis, calcium ion transmembrane transport, calcium activated galactosylceramide scrambling, calcium activated phosphatidylcholine scrambling, calcium activated phosphatidylserine scrambling, positive regulation of phagocytosis, engulfment, transmembrane transport, pore complex assembly, negative regulation of cell volume, neutrophil degranulation, positive regulation of apoptotic process, sodium ion transmembrane transport, bone mineralization involved in bone maturation, purinergic nucleotide receptor signaling pathway, positive regulation of ion transmembrane transport, ion transmembrane transport, bleb assembly, positive regulation of bone mineralization, plasma membrane phospholipid scrambling, plasma membrane phospholipid scrambling, blood coagulation, chloride transport, cation transport, activation of blood coagulation via clotting cascade, dendritic cell chemotaxis, 59 39 97 140 38 136 97 37 93 ENSG00000177125 chr9 126860665 126885878 + ZBTB34 protein_coding 403341 GO:0005654, GO:0005654, GO:0000785, nucleoplasm, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 586 522 741 465 967 846 581 762 815 ENSG00000177133 chr1 3059615 3068437 - LINC00982 antisense 440556 0 0 0 0 0 0 0 0 0 ENSG00000177138 chrX 9024232 9164639 - FAM9B protein_coding This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011]. 171483 GO:0005654, GO:0000795, nucleoplasm, synaptonemal complex, GO:0005515, protein binding, GO:0051321, GO:0007286, meiotic cell cycle, spermatid development, 4 0 0 3 0 0 6 1 0 ENSG00000177143 chr18 580357 582114 + CETN1 protein_coding The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jan 2015]. 1068 GO:0032391, GO:0005814, GO:0005814, GO:0005813, GO:0005813, GO:0005813, GO:0005737, GO:0000922, photoreceptor connecting cilium, centriole, centriole, centrosome, centrosome, centrosome, cytoplasm, spindle pole, GO:0032795, GO:0031683, GO:0008017, GO:0005515, GO:0005509, heterotrimeric G-protein binding, G-protein beta/gamma-subunit complex binding, microtubule binding, protein binding, calcium ion binding, GO:0051301, GO:0034605, GO:0007099, GO:0006289, GO:0000278, cell division, cellular response to heat, centriole replication, nucleotide-excision repair, mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000177144 chr1 148748894 148750099 + NUDT4B protein_coding 440672 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0052842, GO:0052840, GO:0050072, GO:0046872, GO:0034432, GO:0034431, GO:0008486, GO:0003723, GO:0000298, inositol diphosphate pentakisphosphate diphosphatase activity, inositol diphosphate tetrakisphosphate diphosphatase activity, m7G(5')pppN diphosphatase activity, metal ion binding, bis(5'-adenosyl)-pentaphosphatase activity, bis(5'-adenosyl)-hexaphosphatase activity, diphosphoinositol-polyphosphate diphosphatase activity, RNA binding, endopolyphosphatase activity, GO:1901911, GO:1901909, GO:1901907, GO:0071543, adenosine 5'-(hexahydrogen pentaphosphate) catabolic process, diadenosine hexaphosphate catabolic process, diadenosine pentaphosphate catabolic process, diphosphoinositol polyphosphate metabolic process, 0 2 0 0 0 0 0 0 0 ENSG00000177150 chr18 13663347 13726663 - FAM210A protein_coding 125228 GO:0016021, GO:0005739, GO:0005739, GO:0005737, integral component of membrane, mitochondrion, mitochondrion, cytoplasm, GO:0003674, molecular_function, GO:0008150, biological_process, 9 17 15 132 136 81 72 58 35 ENSG00000177151 chr1 248636356 248645278 - OR2T35 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403244 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177156 chr11 747329 765024 + TALDO1 protein_coding Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq, Jul 2008]. 6888 GO:0070062, GO:0005829, GO:0005737, GO:0005634, GO:0005622, extracellular exosome, cytosol, cytoplasm, nucleus, intracellular anatomical structure, GO:0048029, GO:0005515, GO:0004801, monosaccharide binding, protein binding, sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity, GO:0035722, GO:0019682, GO:0009052, GO:0006098, GO:0006002, GO:0005999, GO:0005975, interleukin-12-mediated signaling pathway, glyceraldehyde-3-phosphate metabolic process, pentose-phosphate shunt, non-oxidative branch, pentose-phosphate shunt, fructose 6-phosphate metabolic process, xylulose biosynthetic process, carbohydrate metabolic process, 8646 7972 9643 2035 5318 3431 3074 5328 3529 ENSG00000177169 chr12 131894651 131923167 + ULK1 protein_coding 8408 GO:1990316, GO:0097635, GO:0097632, GO:0097629, GO:0055037, GO:0034045, GO:0032045, GO:0030424, GO:0005829, GO:0005829, GO:0005789, GO:0005776, GO:0005741, GO:0005737, Atg1/ULK1 kinase complex, extrinsic component of autophagosome membrane, extrinsic component of phagophore assembly site membrane, extrinsic component of omegasome membrane, recycling endosome, phagophore assembly site membrane, guanyl-nucleotide exchange factor complex, axon, cytosol, cytosol, endoplasmic reticulum membrane, autophagosome, mitochondrial outer membrane, cytoplasm, GO:0106311, GO:0106310, GO:0051020, GO:0044877, GO:0042802, GO:0031267, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, GTPase binding, protein-containing complex binding, identical protein binding, small GTPase binding, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000786, GO:0075044, GO:0048675, GO:0046777, GO:0042594, GO:0031669, GO:0031333, GO:0031175, GO:0031102, GO:0018107, GO:0018105, GO:0016241, GO:0016236, GO:0016236, GO:0010508, GO:0010508, GO:0008104, GO:0007165, GO:0006914, GO:0006914, GO:0006914, GO:0006468, positive regulation of autophagosome assembly, positive regulation by symbiont of host autophagy, axon extension, protein autophosphorylation, response to starvation, cellular response to nutrient levels, negative regulation of protein-containing complex assembly, neuron projection development, neuron projection regeneration, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, regulation of macroautophagy, macroautophagy, macroautophagy, positive regulation of autophagy, positive regulation of autophagy, protein localization, signal transduction, autophagy, autophagy, autophagy, protein phosphorylation, 2871 3646 3816 2699 3648 3264 2921 2670 2786 ENSG00000177173 chr1 116532936 116534092 - NAP1L4P1 processed_pseudogene 112 95 269 33 92 90 41 77 72 ENSG00000177174 chr1 248348775 248349713 + OR14C36 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127066 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177181 chr1 42380795 42422578 + RIMKLA protein_coding 284716 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0072590, GO:0072590, GO:0046872, GO:0016879, GO:0005524, GO:0005515, N-acetyl-L-aspartate-L-glutamate ligase activity, N-acetyl-L-aspartate-L-glutamate ligase activity, metal ion binding, ligase activity, forming carbon-nitrogen bonds, ATP binding, protein binding, GO:0008652, GO:0006464, cellular amino acid biosynthetic process, cellular protein modification process, 0 0 0 0 0 1 0 0 0 ENSG00000177182 chr8 61057158 61501645 + CLVS1 protein_coding 157807 GO:0032588, GO:0031901, GO:0030136, GO:0030136, GO:0005802, GO:0005802, GO:0005768, GO:0005768, trans-Golgi network membrane, early endosome membrane, clathrin-coated vesicle, clathrin-coated vesicle, trans-Golgi network, trans-Golgi network, endosome, endosome, GO:1902936, GO:0080025, GO:0005515, phosphatidylinositol bisphosphate binding, phosphatidylinositol-3,5-bisphosphate binding, protein binding, GO:0007040, GO:0007040, lysosome organization, lysosome organization, 30 14 17 19 26 14 15 13 11 ENSG00000177186 chr1 248323630 248324568 - OR2M7 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391196 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177189 chrX 20149911 20267519 - RPS6KA3 protein_coding This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]. 6197 GO:0005829, GO:0005737, GO:0005654, GO:0005654, cytosol, cytoplasm, nucleoplasm, nucleoplasm, GO:0106311, GO:0106310, GO:0043027, GO:0019901, GO:0005524, GO:0005515, GO:0004711, GO:0004674, GO:0004674, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, protein kinase binding, ATP binding, protein binding, ribosomal protein S6 kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:0045944, GO:0045597, GO:0043620, GO:0043555, GO:0043154, GO:0043066, GO:0035556, GO:0032496, GO:0030307, GO:0018105, GO:0018105, GO:0007417, GO:0007165, GO:0007049, GO:0006915, GO:0002224, GO:0001501, positive regulation of transcription by RNA polymerase II, positive regulation of cell differentiation, regulation of DNA-templated transcription in response to stress, regulation of translation in response to stress, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, intracellular signal transduction, response to lipopolysaccharide, positive regulation of cell growth, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, central nervous system development, signal transduction, cell cycle, apoptotic process, toll-like receptor signaling pathway, skeletal system development, 2118 1786 2499 1106 1244 1268 1325 1065 1198 ENSG00000177191 chr19 41425359 41428730 - B3GNT8 protein_coding 374907 GO:0070062, GO:0016021, GO:0005794, GO:0000139, extracellular exosome, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0016262, GO:0008532, GO:0008376, GO:0008375, GO:0005515, protein N-acetylglucosaminyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0030311, GO:0030311, GO:0016266, GO:0006486, poly-N-acetyllactosamine biosynthetic process, poly-N-acetyllactosamine biosynthetic process, O-glycan processing, protein glycosylation, 948 916 1585 90 227 123 133 226 161 ENSG00000177192 chr12 131929200 131945896 + PUS1 protein_coding This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]. 80324 GO:0005759, GO:0005739, GO:0005654, GO:0005634, mitochondrial matrix, mitochondrion, nucleoplasm, nucleus, GO:0106029, GO:0009982, GO:0009982, GO:0009982, GO:0003723, GO:0002153, GO:0000049, tRNA pseudouridine synthase activity, pseudouridine synthase activity, pseudouridine synthase activity, pseudouridine synthase activity, RNA binding, steroid receptor RNA activator RNA binding, tRNA binding, GO:1990481, GO:0070902, GO:0031119, mRNA pseudouridine synthesis, mitochondrial tRNA pseudouridine synthesis, tRNA pseudouridine synthesis, 9 10 28 61 22 41 40 12 32 ENSG00000177197 chr13 48328084 48328564 - PCNPP5 processed_pseudogene 4 0 3 0 0 2 0 0 3 ENSG00000177200 chr16 53055033 53329150 + CHD9 protein_coding 80205 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0005524, GO:0003678, GO:0003677, ATP binding, DNA helicase activity, DNA binding, GO:0032508, GO:0019216, GO:0006325, DNA duplex unwinding, regulation of lipid metabolic process, chromatin organization, 397 350 407 268 254 342 266 203 246 ENSG00000177201 chr1 248290139 248303424 - OR2T12 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127064 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177202 chr19 48606743 48607714 + SPACA4 protein_coding 171169 GO:0031225, GO:0005886, GO:0005576, GO:0001669, anchored component of membrane, plasma membrane, extracellular region, acrosomal vesicle, GO:0007155, cell adhesion, 0 0 0 0 0 0 3 0 0 ENSG00000177212 chr1 248269917 248277976 - OR2T33 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391195 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177225 chr11 767220 777488 - GATD1 protein_coding 347862 GO:0070062, extracellular exosome, GO:0003674, molecular_function, GO:0008150, biological_process, 55 40 89 56 67 55 72 60 60 ENSG00000177233 chr1 248121932 248122882 + OR2M1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000177234 chr10 120597949 120600124 + LINC01561 lincRNA 404216 0 0 0 0 0 0 0 0 0 ENSG00000177238 chr16 31214021 31231537 + TRIM72 protein_coding 493829 GO:0042383, GO:0042383, GO:0030659, GO:0030659, GO:0005737, sarcolemma, sarcolemma, cytoplasmic vesicle membrane, cytoplasmic vesicle membrane, cytoplasm, GO:0061630, GO:0042802, GO:0031624, GO:0008270, GO:0005515, GO:0001786, ubiquitin protein ligase activity, identical protein binding, ubiquitin conjugating enzyme binding, zinc ion binding, protein binding, phosphatidylserine binding, GO:0051260, GO:0046627, GO:0043569, GO:0043161, GO:0016567, GO:0010832, GO:0007517, GO:0006936, GO:0006887, GO:0003012, GO:0001778, protein homooligomerization, negative regulation of insulin receptor signaling pathway, negative regulation of insulin-like growth factor receptor signaling pathway, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, negative regulation of myotube differentiation, muscle organ development, muscle contraction, exocytosis, muscle system process, plasma membrane repair, 0 1 0 0 1 0 2 0 1 ENSG00000177239 chr9 137086927 137109187 + MAN1B1 protein_coding This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]. 11253 GO:1903561, GO:0044322, GO:0044322, GO:0031410, GO:0016021, GO:0016020, GO:0016020, GO:0016020, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0005783, extracellular vesicle, endoplasmic reticulum quality control compartment, endoplasmic reticulum quality control compartment, cytoplasmic vesicle, integral component of membrane, membrane, membrane, membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, GO:0005509, GO:0004571, GO:0004571, GO:0004571, GO:0004571, calcium ion binding, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, GO:1904382, GO:1904382, GO:1904380, GO:0036512, GO:0036511, GO:0036510, GO:0036509, GO:0036509, GO:0036509, GO:0036508, GO:0036508, GO:0030433, GO:0030433, GO:0009311, GO:0006491, GO:0006486, mannose trimming involved in glycoprotein ERAD pathway, mannose trimming involved in glycoprotein ERAD pathway, endoplasmic reticulum mannose trimming, trimming of second mannose on A branch, trimming of first mannose on A branch, trimming of terminal mannose on C branch, trimming of terminal mannose on B branch, trimming of terminal mannose on B branch, trimming of terminal mannose on B branch, protein alpha-1,2-demannosylation, protein alpha-1,2-demannosylation, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, oligosaccharide metabolic process, N-glycan processing, protein glycosylation, 316 453 474 402 545 476 404 392 390 ENSG00000177243 chr8 7428888 7430348 - DEFB103B protein_coding Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, which has broad spectrum antimicrobial activity and may play an important role in innate epithelial defense. [provided by RefSeq, Oct 2014]. 55894 GO:0005796, GO:0005615, GO:0005615, GO:0005576, Golgi lumen, extracellular space, extracellular space, extracellular region, GO:0042056, GO:0031731, GO:0005515, chemoattractant activity, CCR6 chemokine receptor binding, protein binding, GO:0060326, GO:0051873, GO:0050918, GO:0050830, GO:0050829, GO:0042742, GO:0042742, GO:0031640, GO:0019730, cell chemotaxis, killing by host of symbiont cells, positive chemotaxis, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to bacterium, defense response to bacterium, killing of cells of other organism, antimicrobial humoral response, 0 0 0 0 0 0 0 0 0 ENSG00000177257 chr8 7414860 7416863 - DEFB4B protein_coding Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014]. 100289462 0 0 0 0 0 0 0 0 0 ENSG00000177261 chr2 214697727 214698059 + ENSAP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000177272 chr1 110672465 110675033 - KCNA3 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]. 3738 GO:0099056, GO:0045121, GO:0044305, GO:0030424, GO:0016021, GO:0008076, GO:0005886, integral component of presynaptic membrane, membrane raft, calyx of Held, axon, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, GO:0015271, GO:0005515, GO:0005251, GO:0005249, GO:0005244, outward rectifier potassium channel activity, protein binding, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated ion channel activity, GO:0071805, GO:0051260, GO:0034765, GO:0006813, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, potassium ion transport, 55 28 142 105 33 155 93 31 98 ENSG00000177275 chr1 247924889 247935339 + OR2AJ1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127608 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177283 chr10 35638249 35642278 - FZD8 protein_coding This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]. 8325 GO:1990851, GO:0016021, GO:0016021, GO:0005886, GO:0005794, Wnt-Frizzled-LRP5/6 complex, integral component of membrane, integral component of membrane, plasma membrane, Golgi apparatus, GO:0042813, GO:0042813, GO:0042813, GO:0031625, GO:0030165, GO:0017147, GO:0005515, GO:0005102, GO:0004930, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, ubiquitin protein ligase binding, PDZ domain binding, Wnt-protein binding, protein binding, signaling receptor binding, G protein-coupled receptor activity, GO:0060070, GO:0060070, GO:0060070, GO:0043507, GO:0035567, GO:0033077, GO:0030182, GO:0007186, GO:0001525, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, positive regulation of JUN kinase activity, non-canonical Wnt signaling pathway, T cell differentiation in thymus, neuron differentiation, G protein-coupled receptor signaling pathway, angiogenesis, 1 5 1 5 2 0 1 3 0 ENSG00000177291 chr10 35605410 35608935 + GJD4 protein_coding Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]. 219770 GO:0016021, GO:0005922, integral component of membrane, connexin complex, GO:0005243, gap junction channel activity, GO:0055085, GO:0014717, GO:0007267, transmembrane transport, regulation of satellite cell activation involved in skeletal muscle regeneration, cell-cell signaling, 0 0 2 1 6 0 0 1 2 ENSG00000177294 chr17 6776223 6797101 + FBXO39 protein_coding Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 162517 GO:0019005, SCF ubiquitin ligase complex, GO:0005515, protein binding, GO:0031146, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, 6 2 1 3 0 17 7 0 9 ENSG00000177300 chr4 183318194 183320774 - CLDN22 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and overlaps the 3' UTR of the WWC2 gene (GeneID: 80014) on the opposite strand. [provided by RefSeq, Aug 2010]. 53842 GO:0016021, GO:0005923, GO:0005923, GO:0005886, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:0070830, GO:0016338, GO:0007155, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000177301 chr1 110519837 110631474 - KCNA2 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]. 3737 GO:0044224, GO:0044224, GO:0043679, GO:0043679, GO:0043204, GO:0042734, GO:0033010, GO:0032809, GO:0031258, GO:0030425, GO:0030425, GO:0030424, GO:0030027, GO:0016021, GO:0008076, GO:0008076, GO:0005887, GO:0005886, GO:0005789, juxtaparanode region of axon, juxtaparanode region of axon, axon terminus, axon terminus, perikaryon, presynaptic membrane, paranodal junction, neuronal cell body membrane, lamellipodium membrane, dendrite, dendrite, axon, lamellipodium, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0005515, GO:0005267, GO:0005251, GO:0005251, GO:0005249, GO:0005249, GO:0005249, protein binding, potassium channel activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0071805, GO:0051260, GO:0034765, GO:0019233, GO:0019228, GO:0014059, GO:0006813, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, sensory perception of pain, neuronal action potential, regulation of dopamine secretion, potassium ion transport, 2 3 8 6 4 12 5 2 4 ENSG00000177302 chr17 18271428 18315007 - TOP3A protein_coding This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. 7156 GO:0016605, GO:0005759, GO:0005694, GO:0005654, GO:0005634, PML body, mitochondrial matrix, chromosome, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003917, GO:0003916, GO:0003697, GO:0003677, zinc ion binding, protein binding, DNA topoisomerase type I (single strand cut, ATP-independent) activity, DNA topoisomerase activity, single-stranded DNA binding, DNA binding, GO:1901796, GO:0051321, GO:0051304, GO:0032042, GO:0006265, GO:0006265, GO:0006260, regulation of signal transduction by p53 class mediator, meiotic cell cycle, chromosome separation, mitochondrial DNA metabolic process, DNA topological change, DNA topological change, DNA replication, 530 531 502 875 1140 917 656 575 647 ENSG00000177303 chr17 75500261 75515583 - CASKIN2 protein_coding This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. 57513 GO:0016020, GO:0005737, membrane, cytoplasm, GO:0003674, molecular_function, GO:0008150, biological_process, 0 3 0 0 0 0 0 0 0 ENSG00000177306 chr8 7246726 7247571 - OR7E125P unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000177311 chr3 141324213 141449792 + ZBTB38 protein_coding The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]. 253461 GO:0072562, GO:0005654, GO:0005634, GO:0005634, GO:0000785, blood microparticle, nucleoplasm, nucleus, nucleus, chromatin, GO:0046872, GO:0042803, GO:0008327, GO:0005515, GO:0003700, GO:0000981, GO:0000978, metal ion binding, protein homodimerization activity, methyl-CpG binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045892, GO:0006974, GO:0006355, GO:0006275, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, cellular response to DNA damage stimulus, regulation of transcription, DNA-templated, regulation of DNA replication, 68 136 175 146 113 306 170 108 249 ENSG00000177324 chrX 18162931 18220883 - BEND2 protein_coding This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 139105 GO:0005515, protein binding, 0 1 0 0 1 5 0 0 0 ENSG00000177335 chr8 143039209 143059942 + C8orf31 processed_transcript 286122 0 2 0 0 0 0 0 0 0 ENSG00000177337 chr18 3593732 3598352 + DLGAP1-AS1 antisense 62 89 143 39 82 76 61 77 54 ENSG00000177338 chr17 73750330 73828520 - LINC00469 lincRNA 0 0 0 0 0 2 2 1 0 ENSG00000177340 chr12 31324316 31325829 + FLJ13224 antisense 79857 0 0 0 0 0 0 0 0 0 ENSG00000177350 chr14 55766177 55767717 + RPL13AP3 transcribed_processed_pseudogene 645683 GO:0005840, GO:0005634, ribosome, nucleus, GO:0003735, structural constituent of ribosome, GO:0006412, translation, 0 0 0 0 0 0 0 0 0 ENSG00000177352 chr3 49162535 49166321 - CCDC71 protein_coding 64925 180 168 190 44 54 31 46 32 44 ENSG00000177354 chr10 49299193 49327487 + C10orf71 protein_coding 118461 GO:0030018, Z disc, GO:0005515, protein binding, GO:0070886, positive regulation of calcineurin-NFAT signaling cascade, 0 0 0 3 0 0 0 0 0 ENSG00000177359 chr12 31111652 31201235 - AC024940.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000177363 chr11 62686402 62689899 - LRRN4CL protein_coding 221091 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000177369 chr17 49248239 49258662 + FLJ40194 processed_transcript 124871 4 4 2 0 5 0 5 1 0 ENSG00000177370 chr17 997117 1003671 + TIMM22 protein_coding Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]. 29928 GO:0042721, GO:0042721, GO:0016021, GO:0005743, TIM22 mitochondrial import inner membrane insertion complex, TIM22 mitochondrial import inner membrane insertion complex, integral component of membrane, mitochondrial inner membrane, GO:0030943, GO:0008320, GO:0008320, GO:0005515, mitochondrion targeting sequence binding, protein transmembrane transporter activity, protein transmembrane transporter activity, protein binding, GO:0071806, GO:0045039, GO:0045039, GO:0045039, GO:0006626, protein transmembrane transport, protein insertion into mitochondrial inner membrane, protein insertion into mitochondrial inner membrane, protein insertion into mitochondrial inner membrane, protein targeting to mitochondrion, 0 0 0 0 0 0 0 0 0 ENSG00000177374 chr17 2054154 2063241 + HIC1 protein_coding This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]. 3090 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0042826, GO:0005515, GO:0003700, GO:0003700, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, histone deacetylase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0043517, GO:0030178, GO:0016055, GO:0008630, GO:0007275, GO:0006357, GO:0006355, GO:0000122, GO:0000122, positive regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of Wnt signaling pathway, Wnt signaling pathway, intrinsic apoptotic signaling pathway in response to DNA damage, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 486 218 516 175 125 187 138 102 188 ENSG00000177380 chr19 49119389 49151026 + PPFIA3 protein_coding The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]. 8541 GO:0098875, GO:0048786, GO:0048786, GO:0005829, GO:0001669, epididymosome, presynaptic active zone, presynaptic active zone, cytosol, acrosomal vesicle, GO:0005515, protein binding, GO:0050808, GO:0048172, GO:0014047, GO:0007269, GO:0007269, synapse organization, regulation of short-term neuronal synaptic plasticity, glutamate secretion, neurotransmitter secretion, neurotransmitter secretion, 0 1 1 3 1 10 5 0 0 ENSG00000177383 chr3 184710367 184712002 - MAGEF1 protein_coding This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. [provided by RefSeq, Jul 2008]. 64110 GO:0005515, protein binding, GO:2000060, GO:2000042, GO:0097428, GO:0016567, positive regulation of ubiquitin-dependent protein catabolic process, negative regulation of double-strand break repair via homologous recombination, protein maturation by iron-sulfur cluster transfer, protein ubiquitination, 5 7 6 14 11 17 6 11 10 ENSG00000177398 chr21 42062959 42143453 + UMODL1 protein_coding 89766 GO:0016324, GO:0016021, GO:0009986, GO:0009897, GO:0005737, GO:0005615, apical plasma membrane, integral component of membrane, cell surface, external side of plasma membrane, cytoplasm, extracellular space, GO:0030414, GO:0005509, GO:0005201, peptidase inhibitor activity, calcium ion binding, extracellular matrix structural constituent, GO:2000354, GO:1990266, GO:0097211, GO:0060612, GO:0048609, GO:0042981, GO:0010468, GO:0010466, GO:0007338, regulation of ovarian follicle development, neutrophil migration, cellular response to gonadotropin-releasing hormone, adipose tissue development, multicellular organismal reproductive process, regulation of apoptotic process, regulation of gene expression, negative regulation of peptidase activity, single fertilization, 0 0 0 0 1 4 0 0 0 ENSG00000177400 chr8 12684154 12685153 - OR7E8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000177406 chr12 630891 663706 + AC021054.1 antisense 100049716 630 327 572 165 168 173 188 168 142 ENSG00000177409 chr7 93130055 93148369 - SAMD9L protein_coding This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]. 219285 GO:0005769, GO:0005737, early endosome, cytoplasm, GO:0005515, protein binding, 1809 826 1967 932 699 1238 1312 689 1002 ENSG00000177410 chr20 49278178 49295738 + ZFAS1 antisense This gene represents a snoRNA host gene that produces a non-coding RNA. Increased expression or amplification of this locus is associated with cancer progression and metastasis. This transcript regulates expression of genes involved in differentiation. It may act a molecular sponge for microRNAs. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2017]. 441951 GO:0005737, GO:0005634, cytoplasm, nucleus, 324 322 480 413 886 763 338 449 500 ENSG00000177414 chr1 64203627 64267368 + UBE2U protein_coding 148581 GO:0033503, GO:0000785, HULC complex, chromatin, GO:0061631, GO:0005524, GO:0005515, ubiquitin conjugating enzyme activity, ATP binding, protein binding, GO:0043161, GO:0016574, GO:0006281, GO:0000209, proteasome-mediated ubiquitin-dependent protein catabolic process, histone ubiquitination, DNA repair, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000177418 chr7 66556889 66557362 - AC006001.1 processed_pseudogene 1 1 1 11 11 1 0 6 17 ENSG00000177425 chr12 79574979 79691097 - PAWR protein_coding This gene encodes a tumor suppressor protein that selectively induces apoptosis in cancer cells through intracellular and extracellular mechanisms. The intracellular mechanism involves the inhibition of pro-survival pathways and the activation of Fas-mediated apoptosis, while the extracellular mechanism involves the binding of a secreted form of this protein to glucose regulated protein 78 (GRP78) on the cell surface, which leads to activation of the extrinsic apoptotic pathway. This gene is located on the unstable human chromosomal 12q21 region and is often deleted or mutated different tumors. The encoded protein also plays an important role in the progression of age-related diseases. [provided by RefSeq, Aug 2017]. 5074 GO:0015629, GO:0005886, GO:0005884, GO:0005737, GO:0005737, GO:0005634, GO:0000785, actin cytoskeleton, plasma membrane, actin filament, cytoplasm, cytoplasm, nucleus, chromatin, GO:0043522, GO:0019899, GO:0005515, GO:0003779, GO:0003714, leucine zipper domain binding, enzyme binding, protein binding, actin binding, transcription corepressor activity, GO:2000774, GO:1901300, GO:0097190, GO:0051017, GO:0050860, GO:0048147, GO:0043065, GO:0043065, GO:0042986, GO:0042130, GO:0032623, GO:0030889, GO:0010628, GO:0006915, GO:0000122, positive regulation of cellular senescence, positive regulation of hydrogen peroxide-mediated programmed cell death, apoptotic signaling pathway, actin filament bundle assembly, negative regulation of T cell receptor signaling pathway, negative regulation of fibroblast proliferation, positive regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of amyloid precursor protein biosynthetic process, negative regulation of T cell proliferation, interleukin-2 production, negative regulation of B cell proliferation, positive regulation of gene expression, apoptotic process, negative regulation of transcription by RNA polymerase II, 5 4 5 23 5 17 6 5 5 ENSG00000177426 chr18 3411608 3459978 + TGIF1 protein_coding The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]. 7050 GO:0005654, GO:0005654, GO:0000785, GO:0000785, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0070410, GO:0005515, GO:0003700, GO:0001227, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, co-SMAD binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071363, GO:0042493, GO:0006357, GO:0000122, GO:0000122, GO:0000122, cellular response to growth factor stimulus, response to drug, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 179 345 389 1758 1487 2020 1939 1240 1363 ENSG00000177427 chr17 18260534 18266552 + MIEF2 protein_coding This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]. 125170 GO:0016021, GO:0005777, GO:0005741, GO:0005741, GO:0005739, integral component of membrane, peroxisome, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, GO:0005515, protein binding, GO:0090314, GO:0090314, GO:0090141, GO:0090141, GO:0090141, GO:0010821, GO:0008053, GO:0007005, GO:0003374, positive regulation of protein targeting to membrane, positive regulation of protein targeting to membrane, positive regulation of mitochondrial fission, positive regulation of mitochondrial fission, positive regulation of mitochondrial fission, regulation of mitochondrion organization, mitochondrial fusion, mitochondrion organization, dynamin family protein polymerization involved in mitochondrial fission, 41 48 46 29 30 8 24 24 20 ENSG00000177432 chr4 88695915 88697829 - NAP1L5 protein_coding This gene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this gene is downregulated in hepatocellular carcinomas. This gene is located within a differentially methylated region (DMR) and is imprinted and paternally expressed. There is a related pseudogene on chromosome 4. [provided by RefSeq, Nov 2015]. 266812 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0006334, nucleosome assembly, 21 17 35 82 102 107 90 99 73 ENSG00000177447 chr11 27806443 27806996 + CBX3P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000177452 chr1 63788721 63789304 - AL161742.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000177453 chr5 43192071 43280850 + NIM1K protein_coding 167359 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0042149, GO:0035556, GO:0006468, GO:0006468, cellular response to glucose starvation, intracellular signal transduction, protein phosphorylation, protein phosphorylation, 0 0 0 2 1 0 0 2 7 ENSG00000177455 chr16 28931939 28939346 + CD19 protein_coding This gene encodes a member of the immunoglobulin gene superfamily. Expression of this cell surface protein is restricted to B cell lymphocytes. This protein is a reliable marker for pre-B cells but its expression diminishes during terminal B cell differentiation in antibody secreting plasma cells. The protein has two N-terminal extracellular Ig-like domains separated by a non-Ig-like domain, a hydrophobic transmembrane domain, and a large C-terminal cytoplasmic domain. This protein forms a complex with several membrane proteins including complement receptor type 2 (CD21) and tetraspanin (CD81) and this complex reduces the threshold for antigen-initiated B cell activation. Activation of this B-cell antigen receptor complex activates the phosphatidylinositol 3-kinase signalling pathway and the subsequent release of intracellular stores of calcium ions. This protein is a target of chimeric antigen receptor (CAR) T-cells used in the treatment of lymphoblastic leukemia. Mutations in this gene are associated with the disease common variable immunodeficiency 3 (CVID3) which results in a failure of B-cell differentiation and impaired secretion of immunoglobulins. CVID3 is characterized by hypogammaglobulinemia, an inability to mount an antibody response to antigen, and recurrent bacterial infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]. 930 GO:0070062, GO:0045121, GO:0032991, GO:0009897, GO:0009897, GO:0005887, GO:0005886, extracellular exosome, membrane raft, protein-containing complex, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0051897, GO:0051281, GO:0051281, GO:0050864, GO:0050855, GO:0050853, GO:0050853, GO:0050851, GO:0050776, GO:0043552, GO:0030449, GO:0016064, GO:0002322, GO:0002322, GO:0001923, positive regulation of protein kinase B signaling, positive regulation of release of sequestered calcium ion into cytosol, positive regulation of release of sequestered calcium ion into cytosol, regulation of B cell activation, regulation of B cell receptor signaling pathway, B cell receptor signaling pathway, B cell receptor signaling pathway, antigen receptor-mediated signaling pathway, regulation of immune response, positive regulation of phosphatidylinositol 3-kinase activity, regulation of complement activation, immunoglobulin mediated immune response, B cell proliferation involved in immune response, B cell proliferation involved in immune response, B-1 B cell differentiation, 2 5 6 10 28 14 5 14 7 ENSG00000177459 chr8 98064311 98093610 + ERICH5 protein_coding 203111 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000177462 chr1 247920252 247921956 + OR2T8 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 343172 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177463 chr3 14947584 15053600 + NR2C2 protein_coding This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]. 7182 GO:0005654, GO:0005654, GO:0000785, GO:0000785, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0043565, GO:0008270, GO:0005515, GO:0004879, GO:0003700, GO:0001228, GO:0000981, GO:0000978, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, zinc ion binding, protein binding, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048856, GO:0045944, GO:0045944, GO:0040019, GO:0030522, GO:0030154, GO:0007399, GO:0007283, GO:0006367, GO:0006357, GO:0006355, GO:0000122, anatomical structure development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of embryonic development, intracellular receptor signaling pathway, cell differentiation, nervous system development, spermatogenesis, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1371 1368 1933 1073 1374 1380 1197 995 1165 ENSG00000177464 chr19 45589764 45602208 - GPR4 protein_coding 2828 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0004930, GO:0004930, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0072144, GO:0060055, GO:0051482, GO:0050729, GO:0043114, GO:0035025, GO:0035025, GO:0035025, GO:0030155, GO:0016525, GO:0010447, GO:0010447, GO:0007200, GO:0007189, GO:0007189, GO:0007186, glomerular mesangial cell development, angiogenesis involved in wound healing, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of inflammatory response, regulation of vascular permeability, positive regulation of Rho protein signal transduction, positive regulation of Rho protein signal transduction, positive regulation of Rho protein signal transduction, regulation of cell adhesion, negative regulation of angiogenesis, response to acidic pH, response to acidic pH, phospholipase C-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 6 4 18 34 57 80 32 34 88 ENSG00000177465 chr14 73591706 73596496 + ACOT4 protein_coding 122970 GO:0005829, GO:0005782, GO:0005777, GO:0005777, cytosol, peroxisomal matrix, peroxisome, peroxisome, GO:0102991, GO:0052689, GO:0047617, GO:0047617, GO:0044466, GO:0016290, GO:0004778, myristoyl-CoA hydrolase activity, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, acyl-CoA hydrolase activity, glutaryl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, succinyl-CoA hydrolase activity, GO:0046459, GO:0043649, GO:0043648, GO:0032789, GO:0032788, GO:0019605, GO:0006637, GO:0006637, GO:0006637, GO:0006633, GO:0006631, GO:0006625, GO:0006104, GO:0001676, GO:0000038, short-chain fatty acid metabolic process, dicarboxylic acid catabolic process, dicarboxylic acid metabolic process, unsaturated monocarboxylic acid metabolic process, saturated monocarboxylic acid metabolic process, butyrate metabolic process, acyl-CoA metabolic process, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid biosynthetic process, fatty acid metabolic process, protein targeting to peroxisome, succinyl-CoA metabolic process, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 0 2 3 2 1 0 2 1 0 ENSG00000177468 chr6 137492202 137494250 - OLIG3 protein_coding 167826 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097476, GO:0030182, GO:0021520, GO:0006357, GO:0000122, spinal cord motor neuron migration, neuron differentiation, spinal cord motor neuron cell fate specification, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000177469 chr17 42402452 42423517 - CAVIN1 protein_coding This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]. 284119 GO:0045121, GO:0043231, GO:0032991, GO:0005901, GO:0005901, GO:0005886, GO:0005829, GO:0005783, GO:0005739, GO:0005737, GO:0005737, GO:0005654, GO:0005634, membrane raft, intracellular membrane-bounded organelle, protein-containing complex, caveola, caveola, plasma membrane, cytosol, endoplasmic reticulum, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0042802, GO:0042134, GO:0042134, GO:0005515, GO:0003723, identical protein binding, rRNA primary transcript binding, rRNA primary transcript binding, protein binding, RNA binding, GO:2000147, GO:0009306, GO:0009303, GO:0006363, GO:0006363, GO:0006363, GO:0006361, GO:0006361, positive regulation of cell motility, protein secretion, rRNA transcription, termination of RNA polymerase I transcription, termination of RNA polymerase I transcription, termination of RNA polymerase I transcription, transcription initiation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, 0 1 0 1 0 0 3 2 5 ENSG00000177476 chr1 247605586 247606515 + OR2G3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81469 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177479 chr3 48918821 48986382 + ARIH2 protein_coding The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]. 10425 GO:0031466, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0000151, Cul5-RING ubiquitin ligase complex, cytoplasm, cytoplasm, nucleoplasm, nucleus, ubiquitin ligase complex, GO:0061630, GO:0031624, GO:0031624, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, ubiquitin conjugating enzyme binding, ubiquitin conjugating enzyme binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:1903955, GO:0071425, GO:0070936, GO:0070534, GO:0048588, GO:0032436, GO:0016567, GO:0007275, GO:0006511, GO:0006511, GO:0000209, GO:0000209, positive regulation of protein targeting to mitochondrion, hematopoietic stem cell proliferation, protein K48-linked ubiquitination, protein K63-linked ubiquitination, developmental cell growth, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, multicellular organism development, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, protein polyubiquitination, 526 500 671 410 520 550 455 390 362 ENSG00000177483 chr2 237798389 237842808 + RBM44 protein_coding 375316 GO:0045171, GO:0005737, intercellular bridge, cytoplasm, GO:0042803, GO:0003723, protein homodimerization activity, RNA binding, 90 88 35 65 95 49 126 64 38 ENSG00000177485 chrX 120250752 120258398 + ZBTB33 protein_coding This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-alpha2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010]. 10009 GO:0005886, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, plasma membrane, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0008327, GO:0005515, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, methyl-CpG binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0045892, GO:0035556, GO:0016055, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, intracellular signal transduction, Wnt signaling pathway, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 137 146 228 117 65 200 109 65 165 ENSG00000177489 chr1 247588360 247589313 + OR2G2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81470 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177494 chr3 111592900 111595443 - ZBED2 protein_coding 79413 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0000981, GO:0000976, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, GO:0045618, GO:0000122, positive regulation of keratinocyte differentiation, negative regulation of transcription by RNA polymerase II, 12 2 4 9 0 0 13 1 1 ENSG00000177504 chrX 8169944 8171267 - VCX2 protein_coding This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes that are expressed exclusively in male germ cells. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This gene contains two copies of a 30 nt tandem repeat. Deletion of a nearby member of this family was implicated in cognitive disability. [provided by RefSeq, Feb 2015]. 51480 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, GO:0007420, biological_process, brain development, 0 0 0 0 0 0 0 0 0 ENSG00000177508 chr16 54283304 54286763 - IRX3 protein_coding IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]. 79191 GO:0030424, GO:0005737, GO:0005634, GO:0000785, axon, cytoplasm, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0097009, GO:0072086, GO:0048468, GO:0045666, GO:0045665, GO:0030182, GO:0007498, GO:0006357, GO:0001656, energy homeostasis, specification of loop of Henle identity, cell development, positive regulation of neuron differentiation, negative regulation of neuron differentiation, neuron differentiation, mesoderm development, regulation of transcription by RNA polymerase II, metanephros development, 0 0 0 0 0 0 0 0 0 ENSG00000177511 chr18 57350813 57371731 + ST8SIA3 protein_coding ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]. 51046 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0042802, GO:0033691, GO:0008373, GO:0003828, GO:0003828, identical protein binding, sialic acid binding, sialyltransferase activity, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity, GO:1990743, GO:0009311, GO:0009311, GO:0009100, GO:0006688, GO:0006491, GO:0006491, GO:0006486, GO:0006486, GO:0006486, GO:0001574, protein sialylation, oligosaccharide metabolic process, oligosaccharide metabolic process, glycoprotein metabolic process, glycosphingolipid biosynthetic process, N-glycan processing, N-glycan processing, protein glycosylation, protein glycosylation, protein glycosylation, ganglioside biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000177519 chr2 153477338 153478808 - RPRM protein_coding 56475 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0005515, protein binding, GO:0007346, GO:0007050, regulation of mitotic cell cycle, cell cycle arrest, 0 0 0 0 0 0 0 0 0 ENSG00000177535 chr1 247449118 247458105 - OR2B11 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127623 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 2 10 5 3 8 3 7 4 9 ENSG00000177542 chr11 790475 798333 - SLC25A22 protein_coding This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]. 79751 GO:0016021, GO:0005743, GO:0005743, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, GO:0022857, GO:0015293, GO:0015183, GO:0005347, GO:0005313, GO:0005313, transmembrane transporter activity, symporter activity, L-aspartate transmembrane transporter activity, ATP transmembrane transporter activity, L-glutamate transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:0070778, GO:0043490, GO:0015867, GO:0015813, GO:0015813, GO:0015810, GO:0006811, GO:0006810, L-aspartate transmembrane transport, malate-aspartate shuttle, ATP transport, L-glutamate transmembrane transport, L-glutamate transmembrane transport, aspartate transmembrane transport, ion transport, transport, 54 31 46 48 48 39 48 34 62 ENSG00000177548 chr16 28904421 28936526 - RABEP2 protein_coding 79874 GO:0043231, GO:0043231, GO:0036064, GO:0005829, GO:0005813, GO:0005769, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, ciliary basal body, cytosol, centrosome, early endosome, GO:0008083, GO:0005515, GO:0005096, growth factor activity, protein binding, GTPase activator activity, GO:1902017, GO:0043547, GO:0030030, GO:0015031, GO:0007165, GO:0006897, regulation of cilium assembly, positive regulation of GTPase activity, cell projection organization, protein transport, signal transduction, endocytosis, 49 53 91 65 62 77 55 52 63 ENSG00000177551 chr1 115836377 115843917 - NHLH2 protein_coding 4808 GO:0005667, GO:0000785, GO:0000785, transcription regulator complex, chromatin, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0001228, GO:0001102, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051091, GO:0045944, GO:0042698, GO:0030154, GO:0007617, GO:0007417, GO:0006357, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, ovulation cycle, cell differentiation, mating behavior, central nervous system development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000177553 chr1 11777077 11779619 - AL953897.1 antisense 102724659 0 0 0 0 0 0 0 0 4 ENSG00000177556 chr5 151742316 151772532 - ATOX1 protein_coding This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]. 475 GO:0005829, GO:0005829, cytosol, cytosol, GO:0051117, GO:0032767, GO:0016531, GO:0016531, GO:0016530, GO:0005515, GO:0005507, ATPase binding, copper-dependent protein binding, copper chaperone activity, copper chaperone activity, metallochaperone activity, protein binding, copper ion binding, GO:0060003, GO:0043066, GO:0006979, GO:0006878, GO:0006825, copper ion export, negative regulation of apoptotic process, response to oxidative stress, cellular copper ion homeostasis, copper ion transport, 145 106 121 85 119 108 84 91 111 ENSG00000177558 chr19 35224800 35228729 - FAM187B protein_coding 148109 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000177565 chr3 177019340 177228000 - TBL1XR1 protein_coding This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]. 79718 GO:0072686, GO:0017053, GO:0005654, GO:0005634, GO:0000118, GO:0000118, mitotic spindle, transcription repressor complex, nucleoplasm, nucleus, histone deacetylase complex, histone deacetylase complex, GO:0047485, GO:0042393, GO:0008013, GO:0005515, GO:0003714, GO:0003714, GO:0003714, GO:0000976, GO:0000976, protein N-terminus binding, histone binding, beta-catenin binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0090263, GO:0090207, GO:0060613, GO:0050872, GO:0045944, GO:0045893, GO:0043161, GO:0035264, GO:0019216, GO:0016575, GO:0016042, GO:0006357, GO:0002021, GO:0001835, GO:0000122, positive regulation of canonical Wnt signaling pathway, regulation of triglyceride metabolic process, fat pad development, white fat cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, proteasome-mediated ubiquitin-dependent protein catabolic process, multicellular organism growth, regulation of lipid metabolic process, histone deacetylation, lipid catabolic process, regulation of transcription by RNA polymerase II, response to dietary excess, blastocyst hatching, negative regulation of transcription by RNA polymerase II, 1296 1336 1640 844 1435 1249 905 925 927 ENSG00000177570 chr8 118189455 118622112 - SAMD12 protein_coding 401474 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 1 0 13 0 3 16 5 6 7 ENSG00000177575 chr12 7470813 7503893 - CD163 protein_coding The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 9332 GO:0030666, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005576, endocytic vesicle membrane, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0005515, GO:0005044, protein binding, scavenger receptor activity, GO:0006953, GO:0006898, acute-phase response, receptor-mediated endocytosis, 4 16 19 22 35 27 9 18 12 ENSG00000177576 chr18 49477250 49487252 - C18orf32 protein_coding 497661 GO:0005811, GO:0005783, lipid droplet, endoplasmic reticulum, GO:0005515, protein binding, GO:0043123, positive regulation of I-kappaB kinase/NF-kappaB signaling, 79 80 90 54 97 69 62 62 66 ENSG00000177586 chr12 8437403 8438425 - OR7E149P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000177590 chr7 150746893 150747728 - GIMAP3P processed_pseudogene 1 0 2 0 0 5 3 0 0 ENSG00000177595 chr11 799179 809753 - PIDD1 protein_coding The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]. 55367 GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0005123, GO:0004175, GO:0004175, protein binding, death receptor binding, endopeptidase activity, endopeptidase activity, GO:0051092, GO:0043122, GO:0043066, GO:0043065, GO:0042981, GO:0016540, GO:0008625, GO:0007165, GO:0006977, GO:0006974, GO:0006919, GO:0006919, GO:0006915, positive regulation of NF-kappaB transcription factor activity, regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, protein autoprocessing, extrinsic apoptotic signaling pathway via death domain receptors, signal transduction, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, cellular response to DNA damage stimulus, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 21 20 31 56 40 58 53 28 26 ENSG00000177596 chr13 74412957 74419115 - AL355390.1 lincRNA 100288208 2 0 0 0 0 0 0 0 0 ENSG00000177599 chr19 11797667 11809622 + ZNF491 protein_coding 126069 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 0 1 5 3 13 7 3 0 ENSG00000177600 chr11 809647 812880 + RPLP2 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6181 GO:0070062, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, extracellular exosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, GO:0005515, GO:0003735, GO:0003735, protein binding, structural constituent of ribosome, structural constituent of ribosome, GO:0019083, GO:0006614, GO:0006414, GO:0006413, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational elongation, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 730 551 1067 2292 1163 2514 1541 1074 1898 ENSG00000177602 chr17 3723903 3726699 + HASPIN protein_coding 83903 GO:0005819, GO:0005813, GO:0005737, GO:0005694, GO:0005654, GO:0005634, GO:0005634, spindle, centrosome, cytoplasm, chromosome, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0072354, GO:0072354, GO:0005524, GO:0005515, GO:0004672, protein threonine kinase activity, protein serine kinase activity, histone kinase activity (H3-T3 specific), histone kinase activity (H3-T3 specific), ATP binding, protein binding, protein kinase activity, GO:2000751, GO:0071459, GO:0035556, GO:0035556, GO:0007064, GO:0006468, GO:0000278, histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore, protein localization to chromosome, centromeric region, intracellular signal transduction, intracellular signal transduction, mitotic sister chromatid cohesion, protein phosphorylation, mitotic cell cycle, 3 3 2 1 0 0 2 2 4 ENSG00000177606 chr1 58780788 58784327 - JUN protein_coding This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008]. 3725 GO:0035976, GO:0035976, GO:0017053, GO:0005829, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000791, GO:0000785, GO:0000785, GO:0000228, transcription factor AP-1 complex, transcription factor AP-1 complex, transcription repressor complex, cytosol, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, euchromatin, chromatin, chromatin, nuclear chromosome, GO:1990837, GO:0071837, GO:0070412, GO:0044877, GO:0044389, GO:0042802, GO:0035497, GO:0031625, GO:0019899, GO:0008134, GO:0008134, GO:0005515, GO:0005096, GO:0003723, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001228, GO:0001227, GO:0001102, GO:0000981, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, HMG box domain binding, R-SMAD binding, protein-containing complex binding, ubiquitin-like protein ligase binding, identical protein binding, cAMP response element binding, ubiquitin protein ligase binding, enzyme binding, transcription factor binding, transcription factor binding, protein binding, GTPase activator activity, RNA binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000144, GO:1990441, GO:1904707, GO:1902895, GO:1902895, GO:0071277, GO:0071276, GO:0070374, GO:0061029, GO:0060395, GO:0051899, GO:0051726, GO:0051591, GO:0051365, GO:0051090, GO:0048146, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045740, GO:0045657, GO:0043923, GO:0043922, GO:0043547, GO:0043525, GO:0043524, GO:0043392, GO:0043065, GO:0042542, GO:0042493, GO:0042127, GO:0038095, GO:0035994, GO:0035026, GO:0034614, GO:0034097, GO:0032496, GO:0031953, GO:0031103, GO:0030224, GO:0010634, GO:0009314, GO:0008285, GO:0007623, GO:0007612, GO:0007568, GO:0007265, GO:0007179, GO:0006366, GO:0006357, GO:0003151, GO:0001938, GO:0001889, GO:0001836, GO:0001774, GO:0001525, GO:0000122, positive regulation of DNA-templated transcription, initiation, negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of pri-miRNA transcription by RNA polymerase II, cellular response to calcium ion, cellular response to cadmium ion, positive regulation of ERK1 and ERK2 cascade, eyelid development in camera-type eye, SMAD protein signal transduction, membrane depolarization, regulation of cell cycle, response to cAMP, cellular response to potassium ion starvation, regulation of DNA-binding transcription factor activity, positive regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of DNA replication, positive regulation of monocyte differentiation, positive regulation by host of viral transcription, negative regulation by host of viral transcription, positive regulation of GTPase activity, positive regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, negative regulation of DNA binding, positive regulation of apoptotic process, response to hydrogen peroxide, response to drug, regulation of cell population proliferation, Fc-epsilon receptor signaling pathway, response to muscle stretch, leading edge cell differentiation, cellular response to reactive oxygen species, response to cytokine, response to lipopolysaccharide, negative regulation of protein autophosphorylation, axon regeneration, monocyte differentiation, positive regulation of epithelial cell migration, response to radiation, negative regulation of cell population proliferation, circadian rhythm, learning, aging, Ras protein signal transduction, transforming growth factor beta receptor signaling pathway, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, outflow tract morphogenesis, positive regulation of endothelial cell proliferation, liver development, release of cytochrome c from mitochondria, microglial cell activation, angiogenesis, negative regulation of transcription by RNA polymerase II, 788 967 1257 6501 9183 21678 7842 9688 20405 ENSG00000177613 chr10 51695487 51699591 - CSTF2T protein_coding 23283 GO:0043231, GO:0005847, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, mRNA cleavage and polyadenylation specificity factor complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0098789, GO:0031124, GO:0006369, GO:0000398, pre-mRNA cleavage required for polyadenylation, mRNA 3'-end processing, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, 150 129 187 149 134 142 166 114 117 ENSG00000177614 chr1 230314482 230426371 - PGBD5 protein_coding The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, May 2010]. 79605 GO:0005634, GO:0005634, nucleus, nucleus, GO:0004803, GO:0004803, GO:0004803, GO:0004519, transposase activity, transposase activity, transposase activity, endonuclease activity, GO:0098038, GO:0098038, GO:0090305, non-replicative transposition, DNA-mediated, non-replicative transposition, DNA-mediated, nucleic acid phosphodiester bond hydrolysis, 0 0 1 0 0 0 0 0 0 ENSG00000177627 chr12 48482498 48496386 + C12orf54 protein_coding 121273 0 0 0 0 0 0 0 0 0 ENSG00000177628 chr1 155234452 155244699 - GBA protein_coding This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]. 2629 GO:0070062, GO:0043202, GO:0019898, GO:0005802, GO:0005794, GO:0005783, GO:0005765, GO:0005765, GO:0005765, GO:0005765, GO:0005764, extracellular exosome, lysosomal lumen, extrinsic component of membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, GO:0050295, GO:0046527, GO:0005515, GO:0005124, GO:0005102, GO:0004348, GO:0004348, GO:0004348, steryl-beta-glucosidase activity, glucosyltransferase activity, protein binding, scavenger receptor binding, signaling receptor binding, glucosylceramidase activity, glucosylceramidase activity, glucosylceramidase activity, GO:1905165, GO:1905037, GO:1904925, GO:1904457, GO:1903061, GO:1903052, GO:1901805, GO:1901215, GO:0097066, GO:0071548, GO:0071356, GO:0051247, GO:0050728, GO:0046513, GO:0046512, GO:0043627, GO:0043589, GO:0043407, GO:0043243, GO:0036473, GO:0035307, GO:0033574, GO:0033561, GO:0032715, GO:0032436, GO:0032268, GO:0032006, GO:0031333, GO:0031175, GO:0030259, GO:0023021, GO:0016241, GO:0009268, GO:0009267, GO:0008203, GO:0008203, GO:0007040, GO:0007005, GO:0006914, GO:0006687, GO:0006680, GO:0006680, GO:0006680, regulation of lysosomal protein catabolic process, autophagosome organization, positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization, positive regulation of neuronal action potential, positive regulation of protein lipidation, positive regulation of proteolysis involved in cellular protein catabolic process, beta-glucoside catabolic process, negative regulation of neuron death, response to thyroid hormone, response to dexamethasone, cellular response to tumor necrosis factor, positive regulation of protein metabolic process, negative regulation of inflammatory response, ceramide biosynthetic process, sphingosine biosynthetic process, response to estrogen, skin morphogenesis, negative regulation of MAP kinase activity, positive regulation of protein-containing complex disassembly, cell death in response to oxidative stress, positive regulation of protein dephosphorylation, response to testosterone, regulation of water loss via skin, negative regulation of interleukin-6 production, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of cellular protein metabolic process, regulation of TOR signaling, negative regulation of protein-containing complex assembly, neuron projection development, lipid glycosylation, termination of signal transduction, regulation of macroautophagy, response to pH, cellular response to starvation, cholesterol metabolic process, cholesterol metabolic process, lysosome organization, mitochondrion organization, autophagy, glycosphingolipid metabolic process, glucosylceramide catabolic process, glucosylceramide catabolic process, glucosylceramide catabolic process, 6 83 83 0 9 28 15 20 2 ENSG00000177640 chr10 118046279 118210153 + CASC2 antisense 255082 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0043409, GO:0043280, GO:0002357, negative regulation of MAPK cascade, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, defense response to tumor cell, 13 14 14 12 9 9 21 13 15 ENSG00000177646 chr3 128879596 128916067 + ACAD9 protein_coding This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]. 28976 GO:0031966, GO:0030425, GO:0005743, GO:0005739, GO:0005739, GO:0005634, mitochondrial membrane, dendrite, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleus, GO:0070991, GO:0050660, GO:0017099, GO:0005515, GO:0004466, GO:0000062, medium-chain-acyl-CoA dehydrogenase activity, flavin adenine dinucleotide binding, very-long-chain-acyl-CoA dehydrogenase activity, protein binding, long-chain-acyl-CoA dehydrogenase activity, fatty-acyl-CoA binding, GO:0055114, GO:0051791, GO:0032981, GO:0032981, GO:0001676, oxidation-reduction process, medium-chain fatty acid metabolic process, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, long-chain fatty acid metabolic process, 52 70 69 97 98 61 74 64 84 ENSG00000177663 chr22 17084954 17115694 + IL17RA protein_coding Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]. 23765 GO:0005887, GO:0005886, GO:0005576, integral component of plasma membrane, plasma membrane, extracellular region, GO:0030368, GO:0030368, GO:0005515, GO:0005102, interleukin-17 receptor activity, interleukin-17 receptor activity, protein binding, signaling receptor binding, GO:2000340, GO:1900017, GO:0097400, GO:0097400, GO:0072537, GO:0071621, GO:0050832, GO:0045087, GO:0032755, GO:0032754, GO:0032747, GO:0032736, GO:0007166, GO:0006954, GO:0002250, positive regulation of chemokine (C-X-C motif) ligand 1 production, positive regulation of cytokine production involved in inflammatory response, interleukin-17-mediated signaling pathway, interleukin-17-mediated signaling pathway, fibroblast activation, granulocyte chemotaxis, defense response to fungus, innate immune response, positive regulation of interleukin-6 production, positive regulation of interleukin-5 production, positive regulation of interleukin-23 production, positive regulation of interleukin-13 production, cell surface receptor signaling pathway, inflammatory response, adaptive immune response, 3332 3318 4201 2530 3379 3538 2662 2608 3042 ENSG00000177666 chr11 818902 825573 + PNPLA2 protein_coding This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]. 57104 GO:0016021, GO:0016020, GO:0005886, GO:0005829, GO:0005811, GO:0005811, GO:0005789, GO:0005788, GO:0005737, GO:0005654, integral component of membrane, membrane, plasma membrane, cytosol, lipid droplet, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum lumen, cytoplasm, nucleoplasm, GO:0050253, GO:0004806, GO:0004806, GO:0004806, retinyl-palmitate esterase activity, triglyceride lipase activity, triglyceride lipase activity, triglyceride lipase activity, GO:0055088, GO:0044267, GO:0043687, GO:0042572, GO:0036155, GO:0034389, GO:0019915, GO:0019433, GO:0019433, GO:0019433, GO:0010898, GO:0010891, GO:0006651, lipid homeostasis, cellular protein metabolic process, post-translational protein modification, retinol metabolic process, acylglycerol acyl-chain remodeling, lipid droplet organization, lipid storage, triglyceride catabolic process, triglyceride catabolic process, triglyceride catabolic process, positive regulation of triglyceride catabolic process, negative regulation of sequestering of triglyceride, diacylglycerol biosynthetic process, 1435 2110 2166 1699 2707 2099 1732 1947 1648 ENSG00000177669 chr8 30131824 30144686 - MBOAT4 protein_coding 619373 GO:0030176, GO:0030176, GO:0016020, GO:0005789, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, GO:0016746, GO:0016412, GO:0016412, GO:0008374, transferase activity, transferring acyl groups, serine O-acyltransferase activity, serine O-acyltransferase activity, O-acyltransferase activity, GO:0030258, GO:0018191, GO:0018191, lipid modification, peptidyl-serine octanoylation, peptidyl-serine octanoylation, 7 13 3 9 3 1 21 10 6 ENSG00000177673 chr2 231592901 231594283 + TEX44 protein_coding 165100 GO:0005737, cytoplasm, GO:0005515, protein binding, 1 0 0 0 0 0 0 0 0 ENSG00000177674 chr1 11736084 11754802 + AGTRAP protein_coding This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 57085 GO:0043231, GO:0030659, GO:0016021, GO:0005938, GO:0005886, GO:0005829, GO:0005789, GO:0005654, GO:0000139, intracellular membrane-bounded organelle, cytoplasmic vesicle membrane, integral component of membrane, cell cortex, plasma membrane, cytosol, endoplasmic reticulum membrane, nucleoplasm, Golgi membrane, GO:0005515, GO:0004945, protein binding, angiotensin type II receptor activity, GO:0038166, GO:0008217, GO:0001666, angiotensin-activated signaling pathway, regulation of blood pressure, response to hypoxia, 909 858 1278 539 919 835 629 784 680 ENSG00000177675 chr12 7346685 7479897 - CD163L1 protein_coding This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. 283316 GO:0016021, GO:0009897, GO:0005576, integral component of membrane, external side of plasma membrane, extracellular region, GO:0005044, scavenger receptor activity, GO:0006897, endocytosis, 0 1 0 2 1 0 1 0 1 ENSG00000177679 chr7 76201900 76287288 + SRRM3 protein_coding 222183 GO:0003729, mRNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000177683 chr7 108554543 108569750 - THAP5 protein_coding 168451 GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, chromatin, GO:0046872, GO:0003677, GO:0002020, metal ion binding, DNA binding, protease binding, GO:0045786, GO:0007049, GO:0000122, negative regulation of cell cycle, cell cycle, negative regulation of transcription by RNA polymerase II, 597 649 590 302 433 389 367 319 292 ENSG00000177684 chr6 49960249 49964105 - DEFB114 protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]. 245928 GO:0005576, extracellular region, GO:0001530, lipopolysaccharide binding, GO:0061760, GO:0050830, GO:0050829, GO:0050729, GO:0045087, GO:0043407, GO:0032720, GO:0031665, antifungal innate immune response, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, positive regulation of inflammatory response, innate immune response, negative regulation of MAP kinase activity, negative regulation of tumor necrosis factor production, negative regulation of lipopolysaccharide-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177685 chr11 826144 831991 + CRACR2B protein_coding 283229 GO:0005737, cytoplasm, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:2001256, GO:0034613, GO:0002115, regulation of store-operated calcium entry, cellular protein localization, store-operated calcium entry, 4 32 21 9 12 9 3 20 12 ENSG00000177688 chr6 149400227 149401292 + SUMO4 protein_coding This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008]. 387082 GO:0106068, GO:0005634, SUMO ligase complex, nucleus, GO:0044389, GO:0031386, GO:0003674, ubiquitin-like protein ligase binding, protein tag, molecular_function, GO:1900180, GO:0045892, GO:0043392, GO:0043388, GO:0043122, GO:0034599, GO:0016925, GO:0016925, regulation of protein localization to nucleus, negative regulation of transcription, DNA-templated, negative regulation of DNA binding, positive regulation of DNA binding, regulation of I-kappaB kinase/NF-kappaB signaling, cellular response to oxidative stress, protein sumoylation, protein sumoylation, 46 32 45 17 22 31 39 23 26 ENSG00000177689 chrX 27807990 27823014 + MAGEB10 protein_coding This gene encodes a member of the B subfamily of the melanoma associated antigen protein family. The encoded protein is specifically expressed in testis and tumor cells. [provided by RefSeq, Apr 2010]. 139422 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000177692 chr21 33485530 33491720 - DNAJC28 protein_coding This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]. 54943 GO:0017119, Golgi transport complex, GO:0005515, protein binding, GO:0048213, GO:0007030, GO:0006890, Golgi vesicle prefusion complex stabilization, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 0 0 0 5 0 0 0 0 0 ENSG00000177693 chr15 101922042 101923113 - OR4F4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26682 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000177694 chr3 174438573 175810552 + NAALADL2 protein_coding 254827 GO:0016021, GO:0005654, integral component of membrane, nucleoplasm, GO:0005515, protein binding, 0 2 0 0 0 5 0 0 0 ENSG00000177697 chr11 832843 839831 + CD151 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. 977 GO:0016020, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005829, GO:0005604, membrane, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, cytosol, basement membrane, GO:0005515, GO:0005178, GO:0005178, protein binding, integrin binding, integrin binding, GO:0045807, GO:0045807, GO:0044319, GO:0044319, GO:0042098, GO:0031581, GO:0030335, GO:0030335, GO:0016477, GO:0016032, GO:0007155, positive regulation of endocytosis, positive regulation of endocytosis, wound healing, spreading of cells, wound healing, spreading of cells, T cell proliferation, hemidesmosome assembly, positive regulation of cell migration, positive regulation of cell migration, cell migration, viral process, cell adhesion, 20 29 12 21 26 41 29 26 18 ENSG00000177699 chr15 78978889 78985926 + AC011944.1 antisense 100129540 0 0 0 2 0 2 4 0 0 ENSG00000177700 chr11 837356 842545 - POLR2L protein_coding This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]. 5441 GO:0005829, GO:0005736, GO:0005666, GO:0005665, GO:0005665, GO:0005654, GO:0005634, cytosol, RNA polymerase I complex, RNA polymerase III complex, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003899, GO:0003677, zinc ion binding, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0060964, GO:0050434, GO:0045815, GO:0042797, GO:0042795, GO:0035019, GO:0032481, GO:0016070, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006360, GO:0006356, GO:0006351, GO:0006283, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, positive regulation of gene expression, epigenetic, tRNA transcription by RNA polymerase III, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, positive regulation of type I interferon production, RNA metabolic process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, transcription by RNA polymerase I, regulation of transcription by RNA polymerase I, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, 50 38 55 70 48 88 55 45 39 ENSG00000177706 chr7 192969 260745 + FAM20C protein_coding This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]. 56975 GO:0070062, GO:0005794, GO:0005788, GO:0005615, extracellular exosome, Golgi apparatus, endoplasmic reticulum lumen, extracellular space, GO:0106311, GO:0106310, GO:0030145, GO:0016773, GO:0005524, GO:0005515, GO:0005509, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, manganese ion binding, phosphotransferase activity, alcohol group as acceptor, ATP binding, protein binding, calcium ion binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0097187, GO:0071895, GO:0070166, GO:0051174, GO:0046034, GO:0045669, GO:0044267, GO:0043687, GO:0040036, GO:0036179, GO:0031214, GO:0030501, GO:0006468, GO:0006468, dentinogenesis, odontoblast differentiation, enamel mineralization, regulation of phosphorus metabolic process, ATP metabolic process, positive regulation of osteoblast differentiation, cellular protein metabolic process, post-translational protein modification, regulation of fibroblast growth factor receptor signaling pathway, osteoclast maturation, biomineral tissue development, positive regulation of bone mineralization, protein phosphorylation, protein phosphorylation, 11 13 14 3 9 14 8 4 7 ENSG00000177707 chr3 111070071 111275563 + NECTIN3 protein_coding This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 25945 GO:0099061, GO:0098686, GO:0044291, GO:0043296, GO:0030425, GO:0030424, GO:0005912, GO:0005911, GO:0005886, GO:0005886, integral component of postsynaptic density membrane, hippocampal mossy fiber to CA3 synapse, cell-cell contact zone, apical junction complex, dendrite, axon, adherens junction, cell-cell junction, plasma membrane, plasma membrane, GO:0050839, GO:0042803, GO:0005515, cell adhesion molecule binding, protein homodimerization activity, protein binding, GO:1902414, GO:0061951, GO:0060042, GO:0034332, GO:0009566, GO:0007286, GO:0007157, GO:0007156, GO:0007156, GO:0002089, protein localization to cell junction, establishment of protein localization to plasma membrane, retina morphogenesis in camera-type eye, adherens junction organization, fertilization, spermatid development, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, lens morphogenesis in camera-type eye, 1 4 13 6 1 4 5 3 4 ENSG00000177710 chr8 11330888 11332208 + SLC35G5 protein_coding This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq, Aug 2011]. 83650 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 2 0 0 0 0 0 0 0 ENSG00000177721 chr5 43039081 43043170 - ANXA2R protein_coding 389289 GO:0038023, GO:0005515, signaling receptor activity, protein binding, 24 13 36 47 15 56 34 20 41 ENSG00000177725 chr8 22169338 22171710 + AC105206.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000177728 chr17 75441159 75500090 + TMEM94 protein_coding 9772 GO:0016021, integral component of membrane, 182 184 207 197 167 248 235 163 178 ENSG00000177731 chr17 18244836 18258916 - FLII protein_coding This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 2314 GO:0034451, GO:0015629, GO:0005925, GO:0005903, GO:0005829, GO:0005737, GO:0005654, GO:0005634, centriolar satellite, actin cytoskeleton, focal adhesion, brush border, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0051015, GO:0005546, GO:0005515, GO:0003779, actin filament binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, actin binding, GO:0051016, GO:0051014, GO:0030239, GO:0008154, GO:0007275, barbed-end actin filament capping, actin filament severing, myofibril assembly, actin polymerization or depolymerization, multicellular organism development, 2549 2745 2813 1636 2154 1966 1765 1772 1728 ENSG00000177732 chr20 325595 330224 + SOX12 protein_coding Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013]. 6666 GO:0032993, GO:0005654, GO:0000785, GO:0000785, protein-DNA complex, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0003677, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0045591, GO:0045165, GO:0030154, GO:0021510, GO:0009653, GO:0006355, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of regulatory T cell differentiation, cell fate commitment, cell differentiation, spinal cord development, anatomical structure morphogenesis, regulation of transcription, DNA-templated, 16 32 35 30 20 16 19 2 18 ENSG00000177733 chr5 137745651 137754376 - HNRNPA0 protein_coding This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. [provided by RefSeq, Jul 2008]. 10949 GO:0005654, GO:0005654, GO:0005634, nucleoplasm, nucleoplasm, nucleus, GO:0035925, GO:0019901, GO:0003729, GO:0003723, mRNA 3'-UTR AU-rich region binding, protein kinase binding, mRNA binding, RNA binding, GO:0070935, GO:0070935, GO:0032496, GO:0016070, GO:0006954, GO:0006397, GO:0000398, 3'-UTR-mediated mRNA stabilization, 3'-UTR-mediated mRNA stabilization, response to lipopolysaccharide, RNA metabolic process, inflammatory response, mRNA processing, mRNA splicing, via spliceosome, 1707 1587 2021 1827 2043 2570 1926 2030 1971 ENSG00000177736 chr9 124968294 124968840 - FXNP2 processed_pseudogene 0 0 0 3 0 0 0 1 0 ENSG00000177738 chr5 43014414 43067419 - AC025171.1 sense_overlapping 648987 40 26 73 23 25 51 38 12 47 ENSG00000177752 chr4 44622065 44678556 - YIPF7 protein_coding 285525 GO:0016021, GO:0005794, GO:0005789, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, 2 0 0 3 2 5 4 1 0 ENSG00000177757 chr1 817371 819837 + FAM87B lincRNA 400728 5 7 9 5 6 10 6 5 7 ENSG00000177770 chr1 226493188 226493489 - CDKN2AIPNLP1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000177776 chr14 74377818 74378418 - RPS2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000177788 chr1 229258281 229271028 - AL162595.1 bidirectional_promoter_lncRNA 105373159 0 0 0 0 0 0 0 0 0 ENSG00000177791 chr10 73631654 73641757 - MYOZ1 protein_coding The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]. 58529 GO:0031143, GO:0030018, GO:0015629, GO:0005634, pseudopodium, Z disc, actin cytoskeleton, nucleus, GO:0051373, GO:0051373, GO:0031433, GO:0005515, GO:0004865, GO:0003779, FATZ binding, FATZ binding, telethonin binding, protein binding, protein serine/threonine phosphatase inhibitor activity, actin binding, GO:0070885, GO:0045214, GO:0043503, GO:0043417, GO:0042060, GO:0032515, GO:0030239, GO:0007519, GO:0000122, negative regulation of calcineurin-NFAT signaling cascade, sarcomere organization, skeletal muscle fiber adaptation, negative regulation of skeletal muscle tissue regeneration, wound healing, negative regulation of phosphoprotein phosphatase activity, myofibril assembly, skeletal muscle tissue development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000177800 chr1 229249636 229251810 + TMEM78 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000177803 chr4 163932526 163933182 + AC112247.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000177807 chr1 159998651 160070483 - KCNJ10 protein_coding This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]. 3766 GO:0098793, GO:0097449, GO:0044297, GO:0016323, GO:0005887, GO:0005886, GO:0005886, presynapse, astrocyte projection, cell body, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015272, GO:0005524, GO:0005515, GO:0005242, ATP-activated inward rectifier potassium channel activity, ATP binding, protein binding, inward rectifier potassium channel activity, GO:1990573, GO:0060075, GO:0055075, GO:0051935, GO:0048169, GO:0034765, GO:0022010, GO:0007628, GO:0007601, GO:0006813, potassium ion import across plasma membrane, regulation of resting membrane potential, potassium ion homeostasis, glutamate reuptake, regulation of long-term neuronal synaptic plasticity, regulation of ion transmembrane transport, central nervous system myelination, adult walking behavior, visual perception, potassium ion transport, 0 0 0 4 0 0 0 0 0 ENSG00000177822 chr4 181874438 182145249 - AC098864.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000177830 chr11 867860 915058 - CHID1 protein_coding 66005 GO:0070062, GO:0043202, GO:0016020, GO:0005802, GO:0005770, GO:0005764, GO:0005634, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, lysosomal lumen, membrane, trans-Golgi network, late endosome, lysosome, nucleus, extracellular space, extracellular region, extracellular region, GO:0070492, GO:0070492, GO:0008061, GO:0005515, oligosaccharide binding, oligosaccharide binding, chitin binding, protein binding, GO:1900016, GO:0045087, GO:0005975, GO:0002576, negative regulation of cytokine production involved in inflammatory response, innate immune response, carbohydrate metabolic process, platelet degranulation, 11 18 15 30 13 36 49 22 33 ENSG00000177839 chr5 141187127 141191541 + PCDHB9 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56127 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007416, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000177842 chr3 40477131 40518736 + ZNF620 protein_coding 253639 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 9 5 5 21 5 7 12 10 6 ENSG00000177853 chr10 96129715 96205288 + ZNF518A protein_coding The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]. 9849 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 539 616 747 503 853 719 581 575 608 ENSG00000177854 chrX 153972327 153983195 + TMEM187 protein_coding This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010]. 8269 GO:0030133, GO:0030133, GO:0016021, transport vesicle, transport vesicle, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 7 27 8 10 17 14 19 6 5 ENSG00000177855 chr2 183607442 183608119 - CACYBPP2 processed_pseudogene 2 0 3 3 0 5 5 1 5 ENSG00000177868 chr1 42807052 42817252 - SVBP protein_coding 374969 GO:0045177, GO:0045177, GO:0005856, GO:0005737, GO:0005576, apical part of cell, apical part of cell, cytoskeleton, cytoplasm, extracellular region, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:1905048, GO:0061564, GO:0031397, GO:0031397, GO:0010596, GO:0009306, GO:0009306, GO:0006508, regulation of metallopeptidase activity, axon development, negative regulation of protein ubiquitination, negative regulation of protein ubiquitination, negative regulation of endothelial cell migration, protein secretion, protein secretion, proteolysis, 78 84 99 50 60 65 57 57 41 ENSG00000177873 chr3 40477113 40490236 + ZNF619 protein_coding 285267 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 41 32 28 14 23 39 31 19 25 ENSG00000177875 chr12 48183584 48185926 + CCDC184 protein_coding 387856 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0005515, protein binding, 2 7 2 2 0 20 1 1 1 ENSG00000177879 chr5 115841481 115914081 + AP3S1 protein_coding This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 1176 GO:1904115, GO:0043231, GO:0043231, GO:0030659, GO:0030133, GO:0030123, GO:0030119, GO:0005794, axon cytoplasm, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, cytoplasmic vesicle membrane, transport vesicle, AP-3 adaptor complex, AP-type membrane coat adaptor complex, Golgi apparatus, GO:0005515, protein binding, GO:0048490, GO:0016192, GO:0008286, GO:0008089, GO:0006886, anterograde synaptic vesicle transport, vesicle-mediated transport, insulin receptor signaling pathway, anterograde axonal transport, intracellular protein transport, 673 556 697 263 494 420 370 506 424 ENSG00000177885 chr17 75318076 75405709 - GRB2 protein_coding The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2885 GO:0070436, GO:0070062, GO:0012506, GO:0008180, GO:0005911, GO:0005886, GO:0005829, GO:0005794, GO:0005768, GO:0005737, GO:0005730, GO:0005654, GO:0005634, Grb2-EGFR complex, extracellular exosome, vesicle membrane, COP9 signalosome, cell-cell junction, plasma membrane, cytosol, Golgi apparatus, endosome, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0046875, GO:0044877, GO:0043560, GO:0042802, GO:0030674, GO:0019903, GO:0019901, GO:0017124, GO:0005515, GO:0005168, GO:0005154, GO:0003723, GO:0001784, ephrin receptor binding, protein-containing complex binding, insulin receptor substrate binding, identical protein binding, protein-macromolecule adaptor activity, protein phosphatase binding, protein kinase binding, SH3 domain binding, protein binding, neurotrophin TRKA receptor binding, epidermal growth factor receptor binding, RNA binding, phosphotyrosine residue binding, GO:2000379, GO:0071479, GO:0061024, GO:0060670, GO:0051897, GO:0050900, GO:0048646, GO:0048011, GO:0046579, GO:0043408, GO:0042770, GO:0042059, GO:0038128, GO:0038096, GO:0038095, GO:0035723, GO:0035635, GO:0031623, GO:0031532, GO:0031295, GO:0030838, GO:0019221, GO:0016032, GO:0008543, GO:0008286, GO:0008286, GO:0007568, GO:0007411, GO:0007265, GO:0007173, GO:0007173, GO:0000165, positive regulation of reactive oxygen species metabolic process, cellular response to ionizing radiation, membrane organization, branching involved in labyrinthine layer morphogenesis, positive regulation of protein kinase B signaling, leukocyte migration, anatomical structure formation involved in morphogenesis, neurotrophin TRK receptor signaling pathway, positive regulation of Ras protein signal transduction, regulation of MAPK cascade, signal transduction in response to DNA damage, negative regulation of epidermal growth factor receptor signaling pathway, ERBB2 signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, interleukin-15-mediated signaling pathway, entry of bacterium into host cell, receptor internalization, actin cytoskeleton reorganization, T cell costimulation, positive regulation of actin filament polymerization, cytokine-mediated signaling pathway, viral process, fibroblast growth factor receptor signaling pathway, insulin receptor signaling pathway, insulin receptor signaling pathway, aging, axon guidance, Ras protein signal transduction, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, MAPK cascade, 6358 6002 7462 1670 3479 2586 2468 3519 2645 ENSG00000177888 chr1 197153680 197200542 - ZBTB41 protein_coding 360023 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 34 47 89 69 26 82 79 10 80 ENSG00000177889 chr12 93405673 93442262 - UBE2N protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq, Jul 2008]. 7334 GO:0070062, GO:0035370, GO:0032991, GO:0031372, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000151, extracellular exosome, UBC13-UEV1A complex, protein-containing complex, UBC13-MMS2 complex, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, ubiquitin ligase complex, GO:0061631, GO:0061631, GO:0061631, GO:0043130, GO:0031625, GO:0005524, GO:0005515, GO:0004842, GO:0003723, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin binding, ubiquitin protein ligase binding, ATP binding, protein binding, ubiquitin-protein transferase activity, RNA binding, GO:0070534, GO:0070534, GO:0070534, GO:0070498, GO:0070423, GO:0051443, GO:0051092, GO:0051092, GO:0050852, GO:0045739, GO:0043123, GO:0033182, GO:0031058, GO:0016574, GO:0016567, GO:0016567, GO:0007254, GO:0006303, GO:0006301, GO:0006301, GO:0006282, GO:0000729, GO:0000724, GO:0000209, GO:0000187, protein K63-linked ubiquitination, protein K63-linked ubiquitination, protein K63-linked ubiquitination, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, positive regulation of ubiquitin-protein transferase activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, positive regulation of DNA repair, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of histone ubiquitination, positive regulation of histone modification, histone ubiquitination, protein ubiquitination, protein ubiquitination, JNK cascade, double-strand break repair via nonhomologous end joining, postreplication repair, postreplication repair, regulation of DNA repair, DNA double-strand break processing, double-strand break repair via homologous recombination, protein polyubiquitination, activation of MAPK activity, 312 215 378 387 245 450 353 221 284 ENSG00000177910 chr9 88129458 88138446 - SPATA31C2 unprocessed_pseudogene 645961 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000177917 chr2 152717893 152761253 + ARL6IP6 protein_coding 151188 GO:0016021, GO:0005637, integral component of membrane, nuclear inner membrane, GO:0005515, protein binding, 121 113 133 74 93 134 114 102 119 ENSG00000177932 chr5 179060415 179083537 + ZNF354C protein_coding 30832 GO:0031965, GO:0005829, GO:0005634, nuclear membrane, cytosol, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 9 4 10 39 6 65 45 12 30 ENSG00000177938 chr12 18738101 18739187 + CAPZA3 protein_coding This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008]. 93661 GO:0030863, GO:0016020, GO:0008290, GO:0005829, GO:0005634, GO:0001669, cortical cytoskeleton, membrane, F-actin capping protein complex, cytosol, nucleus, acrosomal vesicle, GO:0051015, actin filament binding, GO:0051016, GO:0030036, GO:0019886, GO:0007286, GO:0006888, barbed-end actin filament capping, actin cytoskeleton organization, antigen processing and presentation of exogenous peptide antigen via MHC class II, spermatid development, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 0 0 0 0 0 0 0 ENSG00000177943 chr9 136850943 136860799 + MAMDC4 protein_coding 158056 GO:0016021, integral component of membrane, GO:0015031, protein transport, 3 4 7 11 8 4 21 9 18 ENSG00000177946 chr16 89969773 89972832 - CENPBD1 protein_coding 92806 GO:0005634, nucleus, GO:0003677, DNA binding, 37 19 32 10 15 19 11 30 17 ENSG00000177947 chr11 196738 200261 + ODF3 protein_coding ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004]. 113746 GO:0005856, GO:0005737, GO:0001520, cytoskeleton, cytoplasm, outer dense fiber, GO:0005515, protein binding, GO:0030154, GO:0007283, GO:0007275, cell differentiation, spermatogenesis, multicellular organism development, 0 0 2 2 7 0 6 2 12 ENSG00000177951 chr11 167784 207428 - BET1L protein_coding 51272 GO:0031201, GO:0031201, GO:0030173, GO:0016020, GO:0005829, GO:0005794, GO:0005768, GO:0000139, GO:0000138, SNARE complex, SNARE complex, integral component of Golgi membrane, membrane, cytosol, Golgi apparatus, endosome, Golgi membrane, Golgi trans cisterna, GO:0005484, GO:0005484, SNAP receptor activity, SNAP receptor activity, GO:2000156, GO:2000156, GO:0061025, GO:0042147, GO:0042147, GO:0015031, GO:0006888, regulation of retrograde vesicle-mediated transport, Golgi to ER, regulation of retrograde vesicle-mediated transport, Golgi to ER, membrane fusion, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, protein transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 729 856 784 250 340 227 274 329 207 ENSG00000177954 chr1 153990755 153992155 + RPS27 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]. 6232 GO:0022627, GO:0022627, GO:0022627, GO:0014069, GO:0014069, GO:0005840, GO:0005829, GO:0005654, GO:0005634, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, postsynaptic density, postsynaptic density, ribosome, cytosol, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003735, GO:0003723, GO:0003723, GO:0003677, zinc ion binding, protein binding, structural constituent of ribosome, RNA binding, RNA binding, DNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0006364, GO:0000184, GO:0000028, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal small subunit assembly, 1522 1043 2051 5084 3293 5163 2956 2408 3528 ENSG00000177963 chr11 207511 215113 + RIC8A protein_coding 60626 GO:0005886, GO:0005886, GO:0005737, GO:0005737, plasma membrane, plasma membrane, cytoplasm, cytoplasm, GO:0005515, GO:0005096, GO:0005085, GO:0001965, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, G-protein alpha-subunit binding, GO:0071711, GO:0070586, GO:0043547, GO:0042074, GO:0008542, GO:0007193, GO:0007186, GO:0001944, GO:0001701, basement membrane organization, cell-cell adhesion involved in gastrulation, positive regulation of GTPase activity, cell migration involved in gastrulation, visual learning, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, vasculature development, in utero embryonic development, 1069 1132 994 1311 1641 1066 1374 1100 1092 ENSG00000177971 chr15 75639085 75648706 - IMP3 protein_coding This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008]. 55272 GO:0034457, GO:0034457, GO:0032040, GO:0030684, GO:0005730, GO:0005654, GO:0005654, GO:0005634, Mpp10 complex, Mpp10 complex, small-subunit processome, preribosome, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0030515, GO:0019843, GO:0005515, GO:0003723, snoRNA binding, rRNA binding, protein binding, RNA binding, GO:0006364, GO:0006364, rRNA processing, rRNA processing, 37 28 51 58 35 37 43 40 54 ENSG00000177981 chr12 48147788 48181213 - ASB8 protein_coding 140461 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 332 336 487 128 202 200 161 154 192 ENSG00000177984 chr9 136759634 136766255 - LCN15 protein_coding 389812 GO:0005576, extracellular region, GO:0036094, GO:0005515, small molecule binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000177989 chr22 50529710 50532580 - ODF3B protein_coding 440836 GO:0005856, cytoskeleton, GO:0005515, protein binding, 772 801 889 729 880 1011 832 777 888 ENSG00000177990 chr12 63558913 63668939 - DPY19L2 protein_coding The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]. 283417 GO:0016021, GO:0005637, GO:0005634, integral component of membrane, nuclear inner membrane, nucleus, GO:0000030, mannosyltransferase activity, GO:0018406, GO:0007286, GO:0007286, GO:0007275, protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan, spermatid development, spermatid development, multicellular organism development, 1 0 2 15 0 9 4 1 8 ENSG00000177992 chr9 87882826 87888899 + SPATA31E1 protein_coding 286234 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000177993 chr22 29024999 29031476 - ZNRF3-AS1 antisense 100874123 0 0 0 0 0 0 0 0 0 ENSG00000177994 chr2 54330034 54383742 + C2orf73 protein_coding 129852 0 0 0 0 3 0 0 0 0 ENSG00000178015 chr5 95620078 95622142 + GPR150 protein_coding This gene encodes an orphan member of the class A rhodopsin-like family of G-protein-coupled receptors (GPCRs). Within the rhodopsin-like family, this gene is a member of the vasopressin-like subfamily that also includes vasopressin and oxytocin receptors. The silencing of this gene, due to promoter methylation, is associated with ovarian cancer progression. All GPCRs have a transmembrane domain that includes seven transmembrane alpha-helices. A general feature of GPCR signaling is the agonist-induced conformational change in the receptor, leading to activation of the heterotrimeric G protein. The activated G protein then binds to and activates numerous downstream effector proteins, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]. 285601 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042277, GO:0004930, peptide binding, G protein-coupled receptor activity, GO:0007186, GO:0007186, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 1 1 13 2 0 3 1 3 ENSG00000178021 chr2 54253184 54256272 - TSPYL6 protein_coding 388951 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0006334, nucleosome assembly, 1 0 0 0 4 0 0 0 0 ENSG00000178026 chr22 24585620 24593208 - LRRC75B protein_coding 388886 GO:0005737, cytoplasm, 62 116 58 10 29 6 11 33 18 ENSG00000178028 chr1 44213455 44220681 + DMAP1 protein_coding This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]. 55929 GO:0035267, GO:0035267, GO:0005829, GO:0005737, GO:0005657, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000812, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, cytosol, cytoplasm, replication fork, nucleoplasm, nucleoplasm, nucleus, nucleus, Swr1 complex, GO:0005515, GO:0003714, GO:0001103, protein binding, transcription corepressor activity, RNA polymerase II repressing transcription factor binding, GO:0045892, GO:0045471, GO:0043968, GO:0043968, GO:0043967, GO:0043967, GO:0043486, GO:0042307, GO:0040008, GO:0006306, GO:0006281, GO:0000122, GO:0000122, negative regulation of transcription, DNA-templated, response to ethanol, histone H2A acetylation, histone H2A acetylation, histone H4 acetylation, histone H4 acetylation, histone exchange, positive regulation of protein import into nucleus, regulation of growth, DNA methylation, DNA repair, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 119 143 156 211 203 233 170 169 120 ENSG00000178031 chr9 17906563 18910950 + ADAMTSL1 protein_coding This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]. 92949 GO:0031012, GO:0005788, extracellular matrix, endoplasmic reticulum lumen, GO:0004222, metalloendopeptidase activity, GO:0030198, GO:0006508, extracellular matrix organization, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000178033 chr6 116511646 116524792 + CALHM5 protein_coding 254228 GO:0005887, integral component of plasma membrane, GO:0005261, cation channel activity, GO:0098655, cation transmembrane transport, 3 0 0 0 0 0 0 0 2 ENSG00000178035 chr3 49024325 49029408 - IMPDH2 protein_coding This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]. 3615 GO:1904813, GO:0070062, GO:0034774, GO:0016020, GO:0005829, GO:0005829, GO:0005778, GO:0005737, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, membrane, cytosol, cytosol, peroxisomal membrane, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0046872, GO:0042802, GO:0005515, GO:0003938, GO:0003723, GO:0003677, GO:0000166, metal ion binding, identical protein binding, protein binding, IMP dehydrogenase activity, RNA binding, DNA binding, nucleotide binding, GO:0071353, GO:0060041, GO:0055114, GO:0046651, GO:0043312, GO:0009168, GO:0007623, GO:0006183, GO:0006177, cellular response to interleukin-4, retina development in camera-type eye, oxidation-reduction process, lymphocyte proliferation, neutrophil degranulation, purine ribonucleoside monophosphate biosynthetic process, circadian rhythm, GTP biosynthetic process, GMP biosynthetic process, 296 272 277 1440 1533 1660 1192 896 893 ENSG00000178038 chr3 46668997 46693704 - ALS2CL protein_coding 259173 GO:0005829, cytosol, GO:0042802, GO:0005515, GO:0005096, identical protein binding, protein binding, GTPase activator activity, GO:0043547, GO:0007032, positive regulation of GTPase activity, endosome organization, 13 5 18 46 10 25 44 6 15 ENSG00000178053 chr3 158571163 158607252 + MLF1 protein_coding This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]. 4291 GO:0036064, GO:0005929, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005634, ciliary basal body, cilium, cytoplasm, cytoplasm, nucleus, nucleus, nucleus, GO:0019904, GO:0005515, GO:0003677, protein domain specific binding, protein binding, DNA binding, GO:0007050, GO:0006355, GO:0006351, GO:0002318, cell cycle arrest, regulation of transcription, DNA-templated, transcription, DNA-templated, myeloid progenitor cell differentiation, 17 12 15 14 5 22 15 1 8 ENSG00000178055 chr3 46829542 46834095 - PRSS42 protein_coding This gene encodes a member of a cluster of testis-specific serine proteases. The orthologous mouse gene is expressed during meiosis in pachytene spermatocytes and is required for germ cell survival. This human locus is represented as a pseudogene because it contains an early stop codon that disrupts the trypsin domain, compared to the mouse ortholog. [provided by RefSeq, Jan 2019]. 339906 GO:0031225, GO:0005886, GO:0005737, GO:0005615, anchored component of membrane, plasma membrane, cytoplasm, extracellular space, GO:0004252, serine-type endopeptidase activity, GO:0030154, GO:0007283, GO:0006508, cell differentiation, spermatogenesis, proteolysis, 0 0 0 1 0 0 0 0 0 ENSG00000178057 chr3 49020459 49023495 + NDUFAF3 protein_coding This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]. 25915 GO:0005743, GO:0005743, GO:0005743, GO:0005634, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, nucleus, GO:0005515, protein binding, GO:0032981, GO:0032981, GO:0032981, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, 132 103 115 91 120 144 87 107 136 ENSG00000178074 chr2 199911256 199955935 + C2orf69 protein_coding 205327 GO:0005576, extracellular region, 150 126 150 115 109 179 123 122 105 ENSG00000178075 chr3 113828182 113947174 + GRAMD1C protein_coding 54762 GO:0140268, GO:0016021, GO:0005886, GO:0005789, endoplasmic reticulum-plasma membrane contact site, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, GO:0120020, GO:0015485, GO:0005515, cholesterol transfer activity, cholesterol binding, protein binding, GO:0120009, GO:0071397, GO:0015918, intermembrane lipid transfer, cellular response to cholesterol, sterol transport, 669 576 471 625 865 532 748 611 441 ENSG00000178078 chr19 4324043 4342786 - STAP2 protein_coding This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 55620 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0035591, GO:0005515, signaling adaptor activity, protein binding, GO:0042531, positive regulation of tyrosine phosphorylation of STAT protein, 1 0 0 0 0 0 2 2 0 ENSG00000178081 chr15 30103720 30131757 + ULK4P3 transcribed_unprocessed_pseudogene 89837 1 0 0 0 0 0 0 0 0 ENSG00000178082 chr17 29203426 29204474 - TWF1P1 processed_pseudogene 10 15 28 9 15 9 5 3 4 ENSG00000178084 chr3 184053047 184060671 + HTR3C protein_coding The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008]. 170572 GO:0045202, GO:0043005, GO:0005887, GO:0005886, synapse, neuron projection, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0022850, GO:0022850, GO:0005515, GO:0004888, neurotransmitter receptor activity, serotonin-gated cation-selective channel activity, serotonin-gated cation-selective channel activity, protein binding, transmembrane signaling receptor activity, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007268, GO:0007210, GO:0007165, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, chemical synaptic transmission, serotonin receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000178093 chr19 19512418 19515685 - TSSK6 protein_coding This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012]. 83983 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0044877, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein-containing complex binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0035092, GO:0018105, GO:0007275, GO:0006468, GO:0006468, intracellular signal transduction, sperm chromatin condensation, peptidyl-serine phosphorylation, multicellular organism development, protein phosphorylation, protein phosphorylation, 12 8 13 9 23 28 8 10 7 ENSG00000178096 chr1 149887890 149900798 + BOLA1 protein_coding 51027 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0005515, protein binding, 17 21 8 18 30 27 41 24 35 ENSG00000178104 chr1 148808181 149048286 + PDE4DIP protein_coding The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]. 9659 GO:0030016, GO:0005813, GO:0005813, GO:0005794, GO:0005794, GO:0005737, GO:0005634, myofibril, centrosome, centrosome, Golgi apparatus, Golgi apparatus, cytoplasm, nucleus, GO:0060090, GO:0019899, GO:0005515, molecular adaptor activity, enzyme binding, protein binding, GO:1903358, GO:0034622, regulation of Golgi organization, cellular protein-containing complex assembly, 43 60 107 49 36 79 72 25 48 ENSG00000178105 chr11 108665025 108940930 + DDX10 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]. 1662 GO:0005634, nucleus, GO:0005524, GO:0003724, GO:0003723, ATP binding, RNA helicase activity, RNA binding, GO:0097065, GO:0006364, anterior head development, rRNA processing, 10 8 24 44 9 43 29 8 43 ENSG00000178107 chr14 21108043 21116703 + AL161668.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000178115 chr15 30552078 30562501 + GOLGA8Q protein_coding 727909 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 6 0 0 2 16 0 2 19 ENSG00000178125 chr8 66964099 67056604 - PPP1R42 protein_coding The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provided by RefSeq, Feb 2017]. 286187 GO:0015630, GO:0005815, GO:0005813, GO:0005737, GO:0002177, microtubule cytoskeleton, microtubule organizing center, centrosome, cytoplasm, manchette, GO:0070840, GO:0015631, GO:0003779, dynein complex binding, tubulin binding, actin binding, GO:0010921, regulation of phosphatase activity, 0 0 0 0 0 0 0 0 0 ENSG00000178127 chr18 9102630 9134345 + NDUFV2 protein_coding The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]. 4729 GO:0005747, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0051537, GO:0046872, GO:0009055, GO:0008137, GO:0008137, GO:0005515, 2 iron, 2 sulfur cluster binding, metal ion binding, electron transfer activity, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0048738, GO:0032981, GO:0007399, GO:0006120, GO:0006120, GO:0006120, GO:0006120, cardiac muscle tissue development, mitochondrial respiratory chain complex I assembly, nervous system development, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 7 19 42 34 36 57 39 30 16 ENSG00000178130 chr17 22298691 22299893 + FAM27E5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000178146 chrX 101778969 101780538 - AL672207.1 processed_pseudogene 33 34 48 15 45 29 17 37 15 ENSG00000178149 chr3 49015488 49022293 - DALRD3 protein_coding The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]. 55152 GO:0005524, GO:0005515, GO:0004814, ATP binding, protein binding, arginine-tRNA ligase activity, GO:0006420, arginyl-tRNA aminoacylation, 175 146 182 189 224 254 208 178 185 ENSG00000178150 chr19 48270102 48287608 + ZNF114 protein_coding 163071 GO:0070062, GO:0000785, extracellular exosome, chromatin, GO:0046872, GO:0042802, GO:0005515, GO:0003674, GO:0000981, GO:0000978, metal ion binding, identical protein binding, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0006355, biological_process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1 0 0 0 0 0 0 0 0 ENSG00000178162 chr2 130416755 130431363 - FAR2P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 4 2 0 0 ENSG00000178163 chr4 10439874 10457410 - ZNF518B protein_coding 85460 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 295 429 481 141 348 295 159 307 235 ENSG00000178171 chr2 130755435 130768134 + AMER3 protein_coding 205147 GO:0005886, plasma membrane, GO:0008013, GO:0005546, GO:0005515, beta-catenin binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0060828, GO:0016055, regulation of canonical Wnt signaling pathway, Wnt signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000178172 chr5 148202794 148215137 + SPINK6 protein_coding The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]. 404203 GO:0005576, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:1902572, GO:1900004, GO:0070268, GO:0030154, GO:0007417, GO:0007275, negative regulation of serine-type peptidase activity, negative regulation of serine-type endopeptidase activity, cornification, cell differentiation, central nervous system development, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000178175 chr5 72442652 72507727 - ZNF366 protein_coding 167465 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0030331, GO:0030331, GO:0005515, GO:0003714, GO:0003714, GO:0003700, GO:0000978, metal ion binding, estrogen receptor binding, estrogen receptor binding, protein binding, transcription corepressor activity, transcription corepressor activity, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0043627, GO:0043627, GO:0033147, GO:0033147, GO:0006357, GO:0000122, GO:0000122, response to estrogen, response to estrogen, negative regulation of intracellular estrogen receptor signaling pathway, negative regulation of intracellular estrogen receptor signaling pathway, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 1 3 5 6 5 0 4 0 ENSG00000178177 chr4 17841199 18021876 - LCORL protein_coding This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 254251 GO:0005634, nucleus, GO:1990226, GO:0005515, GO:0003677, histone methyltransferase binding, protein binding, DNA binding, GO:0006366, GO:0006357, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 78 86 95 96 70 113 118 74 70 ENSG00000178184 chr18 80157232 80247546 - PARD6G protein_coding 84552 GO:0032991, GO:0016324, GO:0005938, GO:0005923, GO:0005886, GO:0005829, GO:0005634, protein-containing complex, apical plasma membrane, cell cortex, bicellular tight junction, plasma membrane, cytosol, nucleus, GO:0031267, GO:0005515, GO:0005080, small GTPase binding, protein binding, protein kinase C binding, GO:0070830, GO:0060341, GO:0051301, GO:0007163, GO:0007098, bicellular tight junction assembly, regulation of cellular localization, cell division, establishment or maintenance of cell polarity, centrosome cycle, 11 21 12 15 27 8 21 10 28 ENSG00000178187 chr5 178941191 178966433 + ZNF454 protein_coding 285676 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000178188 chr16 28846600 28874212 + SH2B1 protein_coding This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. 25970 GO:0005886, GO:0005829, GO:0005634, plasma membrane, cytosol, nucleus, GO:0005515, GO:0005068, protein binding, transmembrane receptor protein tyrosine kinase adaptor activity, GO:2000278, GO:0060391, GO:0045840, GO:0035556, GO:0030032, GO:0007596, GO:0007169, regulation of DNA biosynthetic process, positive regulation of SMAD protein signal transduction, positive regulation of mitotic nuclear division, intracellular signal transduction, lamellipodium assembly, blood coagulation, transmembrane receptor protein tyrosine kinase signaling pathway, 252 312 237 250 233 260 258 269 222 ENSG00000178199 chr6 149446795 149485061 - ZC3H12D protein_coding 340152 GO:0036464, GO:0036464, GO:0005654, GO:0005634, GO:0000932, cytoplasmic ribonucleoprotein granule, cytoplasmic ribonucleoprotein granule, nucleoplasm, nucleus, P-body, GO:0046872, GO:0005515, GO:0004521, GO:0003729, metal ion binding, protein binding, endoribonuclease activity, mRNA binding, GO:0090502, GO:0061158, GO:0006402, RNA phosphodiester bond hydrolysis, endonucleolytic, 3'-UTR-mediated mRNA destabilization, mRNA catabolic process, 96 65 324 128 44 125 129 48 80 ENSG00000178201 chr19 57454790 57457142 - VN1R1 protein_coding Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]. 57191 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0016503, pheromone receptor activity, GO:0019236, GO:0008150, GO:0007186, response to pheromone, biological_process, G protein-coupled receptor signaling pathway, 2 0 1 0 0 2 0 1 0 ENSG00000178202 chr11 108472105 108498432 - KDELC2 protein_coding 143888 GO:0012505, GO:0005788, GO:0005575, endomembrane system, endoplasmic reticulum lumen, cellular_component, GO:0046527, GO:0035252, GO:0035251, glucosyltransferase activity, UDP-xylosyltransferase activity, UDP-glucosyltransferase activity, GO:0018242, protein O-linked glycosylation via serine, 18 10 14 29 10 49 13 20 34 ENSG00000178209 chr8 143915147 143976734 - PLEC protein_coding Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as 'hemidesmosomal protein 1' or 'plectin 1, intermediate filament binding 500kDa'. These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]. 5339 GO:0070062, GO:0048471, GO:0045111, GO:0043034, GO:0042383, GO:0042383, GO:0030056, GO:0030056, GO:0016528, GO:0016020, GO:0005925, GO:0005925, GO:0005925, GO:0005903, GO:0005886, GO:0005882, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, perinuclear region of cytoplasm, intermediate filament cytoskeleton, costamere, sarcolemma, sarcolemma, hemidesmosome, hemidesmosome, sarcoplasm, membrane, focal adhesion, focal adhesion, focal adhesion, brush border, plasma membrane, intermediate filament, cytosol, cytosol, cytoplasm, GO:0045296, GO:0030506, GO:0030506, GO:0008307, GO:0005515, GO:0005200, GO:0005198, GO:0003779, GO:0003723, cadherin binding, ankyrin binding, ankyrin binding, structural constituent of muscle, protein binding, structural constituent of cytoskeleton, structural molecule activity, actin binding, RNA binding, GO:0045104, GO:0042060, GO:0031581, GO:0031581, GO:0031581, intermediate filament cytoskeleton organization, wound healing, hemidesmosome assembly, hemidesmosome assembly, hemidesmosome assembly, 1009 1094 2809 1167 898 1679 1321 648 1494 ENSG00000178217 chr10 80537902 80646560 + SH2D4B protein_coding 387694 GO:0005737, cytoplasm, 2 2 7 1 1 0 1 0 4 ENSG00000178222 chr4 1056250 1113562 - RNF212 protein_coding This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]. 285498 GO:0000795, GO:0000795, synaptonemal complex, synaptonemal complex, GO:0046872, GO:0019789, metal ion binding, SUMO transferase activity, GO:0051026, GO:0016925, GO:0016925, GO:0007131, GO:0007129, GO:0006311, chiasma assembly, protein sumoylation, protein sumoylation, reciprocal meiotic recombination, homologous chromosome pairing at meiosis, meiotic gene conversion, 0 1 0 0 0 0 0 3 1 ENSG00000178226 chr16 31138925 31150094 - PRSS36 protein_coding 146547 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0004252, GO:0004252, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0006508, proteolysis, 20 19 18 5 24 7 3 10 4 ENSG00000178229 chr19 57320509 57330776 + ZNF543 protein_coding 125919 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 20 5 27 9 7 4 11 6 2 ENSG00000178233 chr6 44270466 44307506 + TMEM151B protein_coding 441151 GO:0016021, integral component of membrane, 0 0 0 0 0 0 1 0 0 ENSG00000178234 chr7 152025674 152122347 + GALNT11 protein_coding 63917 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0005112, GO:0005112, GO:0004653, metal ion binding, carbohydrate binding, Notch binding, Notch binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0061314, GO:0060271, GO:0018243, GO:0016266, GO:0008593, GO:0008593, GO:0007368, GO:0007220, Notch signaling involved in heart development, cilium assembly, protein O-linked glycosylation via threonine, O-glycan processing, regulation of Notch signaling pathway, regulation of Notch signaling pathway, determination of left/right symmetry, Notch receptor processing, 126 131 172 172 220 316 172 115 180 ENSG00000178235 chr13 83877205 83882393 - SLITRK1 protein_coding This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 114798 GO:0098982, GO:0098982, GO:0098978, GO:0098978, GO:0045202, GO:0016021, GO:0005886, GO:0005576, GABA-ergic synapse, GABA-ergic synapse, glutamatergic synapse, glutamatergic synapse, synapse, integral component of membrane, plasma membrane, extracellular region, GO:0005515, protein binding, GO:1905606, GO:1905606, GO:0099560, GO:0099560, GO:0051965, GO:0050772, GO:0042592, GO:0035264, GO:0030534, GO:0007416, GO:0007409, regulation of presynapse assembly, regulation of presynapse assembly, synaptic membrane adhesion, synaptic membrane adhesion, positive regulation of synapse assembly, positive regulation of axonogenesis, homeostatic process, multicellular organism growth, adult behavior, synapse assembly, axonogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000178243 chr9 135343249 135346562 + C9orf62 lincRNA 157927 0 0 0 0 0 0 0 0 0 ENSG00000178248 chr22 23462086 23486980 - LINC01658 lincRNA 388882 0 0 0 0 0 0 0 0 0 ENSG00000178252 chr3 49007062 49015953 + WDR6 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]. 11180 GO:0008180, GO:0005886, GO:0005829, GO:0005737, COP9 signalosome, plasma membrane, cytosol, cytoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0010507, GO:0008285, GO:0007050, negative regulation of autophagy, negative regulation of cell population proliferation, cell cycle arrest, 273 229 295 375 246 335 375 165 273 ENSG00000178257 chr16 11273218 11273641 - PRM3 protein_coding 58531 GO:0005737, GO:0005634, GO:0005575, GO:0000786, cytoplasm, nucleus, cellular_component, nucleosome, GO:0003677, GO:0003674, DNA binding, molecular_function, GO:0030317, GO:0030261, GO:0030154, GO:0008150, GO:0007283, GO:0007275, flagellated sperm motility, chromosome condensation, cell differentiation, biological_process, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000178279 chr16 11267748 11269533 - TNP2 protein_coding 7142 GO:0000786, nucleosome, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:0035093, GO:0010954, GO:0007341, GO:0007340, GO:0007283, GO:0007275, spermatogenesis, exchange of chromosomal proteins, positive regulation of protein processing, penetration of zona pellucida, acrosome reaction, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000178287 chr8 7847876 7868867 + SPAG11A protein_coding 653423 GO:0005576, extracellular region, GO:0061844, GO:0042742, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000178295 chr2 17753858 17788941 + GEN1 protein_coding This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 348654 GO:0005813, GO:0005654, centrosome, nucleoplasm, GO:0042803, GO:0017108, GO:0017108, GO:0008821, GO:0008821, GO:0000400, GO:0000400, GO:0000287, protein homodimerization activity, 5'-flap endonuclease activity, 5'-flap endonuclease activity, crossover junction endodeoxyribonuclease activity, crossover junction endodeoxyribonuclease activity, four-way junction DNA binding, four-way junction DNA binding, magnesium ion binding, GO:0090305, GO:0090267, GO:0071140, GO:0071139, GO:0031297, GO:0010824, GO:0000724, nucleic acid phosphodiester bond hydrolysis, positive regulation of mitotic cell cycle spindle assembly checkpoint, resolution of mitotic recombination intermediates, resolution of recombination intermediates, replication fork processing, regulation of centrosome duplication, double-strand break repair via homologous recombination, 20 25 39 32 23 35 32 34 30 ENSG00000178297 chr19 2360238 2426239 + TMPRSS9 protein_coding The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]. 360200 GO:0005887, integral component of plasma membrane, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 1 1 2 3 3 3 5 6 1 ENSG00000178301 chr11 77589391 77610355 + AQP11 protein_coding 282679 GO:0048471, GO:0030659, GO:0030425, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005829, GO:0005789, GO:0005783, GO:0005783, GO:0005737, perinuclear region of cytoplasm, cytoplasmic vesicle membrane, dendrite, integral component of membrane, cell surface, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0042802, GO:0015267, GO:0015254, GO:0015250, GO:0015250, GO:0015250, identical protein binding, channel activity, glycerol channel activity, water channel activity, water channel activity, water channel activity, GO:1904293, GO:1903573, GO:0080170, GO:0072014, GO:0051260, GO:0051260, GO:0050680, GO:0048388, GO:0033577, GO:0032364, GO:0030104, GO:0030104, GO:0015840, GO:0015793, GO:0015793, GO:0009992, GO:0008284, GO:0006833, GO:0006833, GO:0006811, GO:0006612, negative regulation of ERAD pathway, negative regulation of response to endoplasmic reticulum stress, hydrogen peroxide transmembrane transport, proximal tubule development, protein homooligomerization, protein homooligomerization, negative regulation of epithelial cell proliferation, endosomal lumen acidification, protein glycosylation in endoplasmic reticulum, oxygen homeostasis, water homeostasis, water homeostasis, urea transport, glycerol transport, glycerol transport, cellular water homeostasis, positive regulation of cell population proliferation, water transport, water transport, ion transport, protein targeting to membrane, 1 0 0 1 0 0 3 0 1 ENSG00000178307 chr17 21197280 21214624 - TMEM11 protein_coding 8834 GO:0031305, GO:0031305, GO:0005887, GO:0005739, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, integral component of plasma membrane, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0007007, GO:0007005, inner mitochondrial membrane organization, mitochondrion organization, 77 62 74 49 98 86 64 61 60 ENSG00000178338 chr5 178859953 178888122 + ZNF354B protein_coding 117608 GO:0005634, nucleus, GO:0046872, GO:0003682, GO:0000981, GO:0000978, metal ion binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 8 8 17 31 12 59 46 15 28 ENSG00000178342 chr18 79863668 79900184 + KCNG2 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [provided by RefSeq, Jul 2008]. 26251 GO:0070062, GO:0016021, GO:0008076, GO:0005886, extracellular exosome, integral component of membrane, voltage-gated potassium channel complex, plasma membrane, GO:0005251, GO:0005249, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0051260, GO:0050796, GO:0034765, GO:0008016, GO:0006813, potassium ion transmembrane transport, protein homooligomerization, regulation of insulin secretion, regulation of ion transmembrane transport, regulation of heart contraction, potassium ion transport, 3 6 1 3 7 6 11 3 0 ENSG00000178343 chr4 42397839 42402487 + SHISA3 protein_coding This gene encodes a single-transmembrane protein which is one of nine members of a family of transmembrane adaptors that modulate both WNT and FGF signaling by blocking the maturation and transport of their receptors to the cell surface. Members of this family contain an N-terminal cysteine-rich domain with a distinct cysteine pattern, a single transmembrane domain, and a C-terminal proline-rich, low complexity region. The encoded protein acts as a tumor suppressor by accelerating beta-catenin degradation. [provided by RefSeq, Jul 2017]. 152573 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, protein binding, GO:0007275, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000178358 chr11 6920974 6922043 + OR2D3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 120775 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000178363 chr10 5524009 5526771 + CALML3 protein_coding 810 GO:0070062, extracellular exosome, GO:0030234, GO:0005515, GO:0005509, enzyme regulator activity, protein binding, calcium ion binding, GO:0050790, GO:0019722, GO:0000226, regulation of catalytic activity, calcium-mediated signaling, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000178372 chr10 5498697 5499555 - CALML5 protein_coding This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008]. 51806 GO:1904813, GO:0005576, ficolin-1-rich granule lumen, extracellular region, GO:0030234, GO:0005509, enzyme regulator activity, calcium ion binding, GO:0050790, GO:0043312, GO:0019722, GO:0008544, GO:0007165, GO:0000226, regulation of catalytic activity, neutrophil degranulation, calcium-mediated signaling, epidermis development, signal transduction, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000178381 chr7 1152071 1160759 - ZFAND2A protein_coding 90637 GO:0005737, GO:0005634, GO:0000502, cytoplasm, nucleus, proteasome complex, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0071243, GO:0032436, cellular response to arsenic-containing substance, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, 257 235 223 444 1083 692 280 440 381 ENSG00000178385 chr2 207821288 208025560 - PLEKHM3 protein_coding 389072 GO:0005886, GO:0005794, GO:0005737, plasma membrane, Golgi apparatus, cytoplasm, GO:0046872, metal ion binding, GO:0045445, myoblast differentiation, 472 502 551 276 446 425 354 452 422 ENSG00000178386 chr19 44051367 44067991 + ZNF223 protein_coding This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. The function of this protein has yet to be determined. [provided by RefSeq, Mar 2014]. 7766 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 2 1 0 2 0 3 1 1 0 ENSG00000178394 chr5 63960356 63962507 - HTR1A protein_coding This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]. 3350 GO:0045202, GO:0030425, GO:0005887, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0090722, GO:0051378, GO:0030594, GO:0005515, GO:0004993, GO:0004993, GO:0004993, receptor-receptor interaction, serotonin binding, neurotransmitter receptor activity, protein binding, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, GO:0050795, GO:0046883, GO:0042428, GO:0042310, GO:0042053, GO:0035640, GO:0014062, GO:0008284, GO:0008283, GO:0007268, GO:0007210, GO:0007198, GO:0007198, GO:0007187, GO:0007186, GO:0007186, GO:0001662, regulation of behavior, regulation of hormone secretion, serotonin metabolic process, vasoconstriction, regulation of dopamine metabolic process, exploration behavior, regulation of serotonin secretion, positive regulation of cell population proliferation, cell population proliferation, chemical synaptic transmission, serotonin receptor signaling pathway, adenylate cyclase-inhibiting serotonin receptor signaling pathway, adenylate cyclase-inhibiting serotonin receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, behavioral fear response, 0 0 0 0 0 0 0 0 0 ENSG00000178395 chr1 223393417 223395470 + CCDC185 protein_coding 164127 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000178397 chr7 6329409 6348981 - FAM220A protein_coding 84792 GO:0005634, nucleus, GO:0097677, GO:0005515, STAT family protein binding, protein binding, GO:0006470, GO:0000122, protein dephosphorylation, negative regulation of transcription by RNA polymerase II, 82 92 106 24 49 47 21 59 48 ENSG00000178401 chr12 49346917 49357546 + DNAJC22 protein_coding 79962 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 3 0 4 0 0 0 ENSG00000178403 chr4 112513516 112516172 - NEUROG2 protein_coding This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012]. 63973 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0070888, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051091, GO:0030182, GO:0006357, positive regulation of DNA-binding transcription factor activity, neuron differentiation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 4 ENSG00000178404 chr17 78870910 78903217 - CEP295NL protein_coding 100653515 GO:0005929, GO:0005829, GO:0005814, GO:0005813, cilium, cytosol, centriole, centrosome, GO:0008017, microtubule binding, GO:0046599, regulation of centriole replication, 44 39 49 45 53 78 94 52 46 ENSG00000178409 chr6 107065182 107115269 - BEND3 protein_coding 57673 GO:0005730, GO:0005654, GO:0000792, GO:0000792, nucleolus, nucleoplasm, heterochromatin, heterochromatin, GO:0005515, GO:0000182, GO:0000182, protein binding, rDNA binding, rDNA binding, GO:1903580, GO:0098532, GO:0080182, GO:0051260, GO:0043967, GO:0036124, GO:0034773, GO:0006306, GO:0000183, GO:0000183, GO:0000122, GO:0000122, positive regulation of ATP metabolic process, histone H3-K27 trimethylation, histone H3-K4 trimethylation, protein homooligomerization, histone H4 acetylation, histone H3-K9 trimethylation, histone H4-K20 trimethylation, DNA methylation, rDNA heterochromatin assembly, rDNA heterochromatin assembly, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 4 3 3 13 5 12 6 0 5 ENSG00000178412 chr18 79638928 79679745 - AC068473.1 lincRNA 284241 0 0 0 0 0 0 0 0 0 ENSG00000178425 chr6 116100849 116249497 + NT5DC1 protein_coding While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]. 221294 GO:0046872, GO:0008253, metal ion binding, 5'-nucleotidase activity, GO:0016311, dephosphorylation, 83 82 93 130 78 158 81 95 98 ENSG00000178429 chr10 84560443 84561263 + RPS3AP5 processed_pseudogene 2 1 2 5 1 5 3 1 1 ENSG00000178440 chr10 49972763 49982053 + LINC00843 lincRNA 4 0 2 5 2 0 1 2 1 ENSG00000178445 chr9 6532464 6645783 - GLDC protein_coding Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]. 2731 GO:0005960, GO:0005886, GO:0005759, GO:0005739, GO:0005739, GO:0005654, glycine cleavage complex, plasma membrane, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, GO:0070280, GO:0042803, GO:0030170, GO:0016829, GO:0016594, GO:0009055, GO:0004375, GO:0004375, pyridoxal binding, protein homodimerization activity, pyridoxal phosphate binding, lyase activity, glycine binding, electron transfer activity, glycine dehydrogenase (decarboxylating) activity, glycine dehydrogenase (decarboxylating) activity, GO:1990830, GO:1903442, GO:0036255, GO:0022900, GO:0019464, GO:0006546, cellular response to leukemia inhibitory factor, response to lipoic acid, response to methylamine, electron transport chain, glycine decarboxylation via glycine cleavage system, glycine catabolic process, 1 0 2 4 5 1 5 2 6 ENSG00000178449 chr12 50111979 50120457 + COX14 protein_coding This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 84987 GO:0031966, GO:0016021, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0033617, GO:0033617, GO:0033617, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, 66 57 43 39 57 41 50 65 44 ENSG00000178457 chr21 28013363 28023233 + LINC00314 lincRNA 246705 0 0 0 0 0 0 0 0 0 ENSG00000178458 chr4 139698144 139698554 - H3F3AP6 processed_pseudogene 381 739 523 119 548 235 141 532 231 ENSG00000178460 chr8 66870749 66922048 + MCMDC2 protein_coding 157777 GO:0042555, GO:0005634, MCM complex, nucleus, GO:0005524, GO:0005515, GO:0003697, GO:0003688, ATP binding, protein binding, single-stranded DNA binding, DNA replication origin binding, GO:1990918, GO:1902975, GO:0048477, GO:0042140, GO:0007283, GO:0007130, GO:0006271, GO:0006268, GO:0006267, GO:0000727, double-strand break repair involved in meiotic recombination, mitotic DNA replication initiation, oogenesis, late meiotic recombination nodule assembly, spermatogenesis, synaptonemal complex assembly, DNA strand elongation involved in DNA replication, DNA unwinding involved in DNA replication, pre-replicative complex assembly involved in nuclear cell cycle DNA replication, double-strand break repair via break-induced replication, 0 0 4 18 8 10 2 4 5 ENSG00000178462 chr10 5393098 5404830 - TUBAL3 protein_coding 79861 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0005525, GO:0005200, GO:0003924, GTP binding, structural constituent of cytoskeleton, GTPase activity, GO:0000278, GO:0000226, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000178464 chr19 12643275 12643919 - RPL10P16 processed_pseudogene 75 53 109 238 122 252 182 79 199 ENSG00000178467 chr3 48989886 49007154 + P4HTM protein_coding The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 54681 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0031418, GO:0016706, GO:0005509, GO:0005506, GO:0004656, L-ascorbic acid binding, 2-oxoglutarate-dependent dioxygenase activity, calcium ion binding, iron ion binding, procollagen-proline 4-dioxygenase activity, GO:0055114, GO:0045646, GO:0018401, oxidation-reduction process, regulation of erythrocyte differentiation, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, 60 51 76 134 83 171 91 80 70 ENSG00000178473 chr10 5365009 5374692 + UCN3 protein_coding This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family of proteins. The encoded preproprotein is proteolytically processed to generate the mature peptide hormone, which is secreted by pancreatic beta and alpha cells. This hormone is an endogenous ligand for corticotropin-releasing factor receptor 2 and may regulate insulin secretion in response to plasma glucose levels. Patients with type 2 diabetes exhibit reduced levels of the encoded protein in beta cells. In the brain, the encoded protein may be responsible for the effects of stress on appetite. [provided by RefSeq, May 2016]. 114131 GO:0043679, GO:0043196, GO:0005615, GO:0005576, axon terminus, varicosity, extracellular space, extracellular region, GO:0051431, GO:0051429, GO:0051429, GO:0005179, corticotropin-releasing hormone receptor 2 binding, corticotropin-releasing hormone receptor binding, corticotropin-releasing hormone receptor binding, hormone activity, GO:0071456, GO:0051412, GO:0045838, GO:0042594, GO:0035902, GO:0032024, GO:0031669, GO:0009755, GO:0009755, GO:0009749, GO:0007586, GO:0007189, GO:0007189, cellular response to hypoxia, response to corticosterone, positive regulation of membrane potential, response to starvation, response to immobilization stress, positive regulation of insulin secretion, cellular response to nutrient levels, hormone-mediated signaling pathway, hormone-mediated signaling pathway, response to glucose, digestion, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000178498 chr12 57604622 57609804 + DTX3 protein_coding DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]. 196403 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0016567, GO:0016567, GO:0007219, protein ubiquitination, protein ubiquitination, Notch signaling pathway, 4 5 31 54 20 56 46 17 32 ENSG00000178502 chr17 41853545 41865431 - KLHL11 protein_coding 55175 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, post-translational protein modification, 14 6 22 18 21 27 28 21 25 ENSG00000178503 chr7 37585500 37586329 - NECAP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000178522 chr4 70592256 70607288 + AMBN protein_coding This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]. 258 GO:0005788, GO:0005576, endoplasmic reticulum lumen, extracellular region, GO:0030345, GO:0008083, GO:0008083, GO:0005515, structural constituent of tooth enamel, growth factor activity, growth factor activity, protein binding, GO:0044267, GO:0043687, GO:0042475, GO:0042127, GO:0031214, GO:0007165, GO:0007155, GO:0007155, cellular protein metabolic process, post-translational protein modification, odontogenesis of dentin-containing tooth, regulation of cell population proliferation, biomineral tissue development, signal transduction, cell adhesion, cell adhesion, 0 0 0 2 0 0 0 0 0 ENSG00000178531 chr19 7924485 7926166 - CTXN1 protein_coding 404217 GO:0016021, integral component of membrane, 0 0 0 4 2 0 0 0 0 ENSG00000178537 chr3 48856931 48898993 - SLC25A20 protein_coding This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]. 788 GO:0016021, GO:0005829, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, cytosol, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0015227, GO:0015227, GO:0005515, acyl carnitine transmembrane transporter activity, acyl carnitine transmembrane transporter activity, protein binding, GO:1902616, GO:1902603, GO:0006853, acyl carnitine transmembrane transport, carnitine transmembrane transport, carnitine shuttle, 95 129 111 82 104 76 86 105 55 ENSG00000178538 chr8 60187347 60281412 - CA8 protein_coding The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 767 GO:0005737, cytoplasm, GO:0016836, GO:0008270, GO:0005515, GO:0004089, hydro-lyase activity, zinc ion binding, protein binding, carbonate dehydratase activity, GO:0048015, GO:0006730, phosphatidylinositol-mediated signaling, one-carbon metabolic process, 1 6 2 0 9 0 0 2 5 ENSG00000178556 chrX 30617454 30617693 + CKS1BP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000178562 chr2 203706475 203738912 + CD28 protein_coding The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]. 940 GO:0098636, GO:0009986, GO:0009897, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0001772, protein complex involved in cell adhesion, cell surface, external side of plasma membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, immunological synapse, GO:0042802, GO:0019901, GO:0015026, GO:0005515, GO:0002020, identical protein binding, protein kinase binding, coreceptor activity, protein binding, protease binding, GO:0097190, GO:0051897, GO:0050852, GO:0050690, GO:0048304, GO:0046641, GO:0045944, GO:0045840, GO:0045727, GO:0045589, GO:0045070, GO:0045066, GO:0045060, GO:0043066, GO:0042110, GO:0042110, GO:0042102, GO:0042102, GO:0042102, GO:0032753, GO:0032743, GO:0032733, GO:0031295, GO:0031295, GO:0014068, GO:0010629, GO:0010628, GO:0007166, GO:0006959, GO:0002863, GO:0001816, apoptotic signaling pathway, positive regulation of protein kinase B signaling, T cell receptor signaling pathway, regulation of defense response to virus by virus, positive regulation of isotype switching to IgG isotypes, positive regulation of alpha-beta T cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic nuclear division, positive regulation of translation, regulation of regulatory T cell differentiation, positive regulation of viral genome replication, regulatory T cell differentiation, negative thymic T cell selection, negative regulation of apoptotic process, T cell activation, T cell activation, positive regulation of T cell proliferation, positive regulation of T cell proliferation, positive regulation of T cell proliferation, positive regulation of interleukin-4 production, positive regulation of interleukin-2 production, positive regulation of interleukin-10 production, T cell costimulation, T cell costimulation, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of gene expression, positive regulation of gene expression, cell surface receptor signaling pathway, humoral immune response, positive regulation of inflammatory response to antigenic stimulus, cytokine production, 274 135 369 575 99 553 634 135 398 ENSG00000178567 chr3 36985043 36993168 - EPM2AIP1 protein_coding The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]. 9852 GO:0098554, GO:0005634, cytoplasmic side of endoplasmic reticulum membrane, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:2000467, GO:0045725, GO:0032868, positive regulation of glycogen (starch) synthase activity, positive regulation of glycogen biosynthetic process, response to insulin, 455 390 688 463 410 568 577 309 333 ENSG00000178568 chr2 211375717 212538841 - ERBB4 protein_coding This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. 2066 GO:0099061, GO:0099056, GO:0098982, GO:0098978, GO:0045211, GO:0043235, GO:0043235, GO:0016323, GO:0009925, GO:0005887, GO:0005886, GO:0005829, GO:0005759, GO:0005739, GO:0005654, GO:0005634, GO:0005576, integral component of postsynaptic density membrane, integral component of presynaptic membrane, GABA-ergic synapse, glutamatergic synapse, postsynaptic membrane, receptor complex, receptor complex, basolateral plasma membrane, basal plasma membrane, integral component of plasma membrane, plasma membrane, cytosol, mitochondrial matrix, mitochondrion, nucleoplasm, nucleus, extracellular region, GO:0042803, GO:0005524, GO:0005515, GO:0005154, GO:0005154, GO:0004714, GO:0004714, GO:0004713, GO:0000976, protein homodimerization activity, ATP binding, protein binding, epidermal growth factor receptor binding, epidermal growth factor receptor binding, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, transcription regulatory region sequence-specific DNA binding, GO:2001223, GO:2000145, GO:2000010, GO:0071364, GO:0070374, GO:0061026, GO:0060749, GO:0060644, GO:0060045, GO:0051897, GO:0046777, GO:0046427, GO:0045893, GO:0045165, GO:0043653, GO:0042531, GO:0038128, GO:0033674, GO:0030334, GO:0021889, GO:0021551, GO:0018108, GO:0016477, GO:0014068, GO:0009880, GO:0008285, GO:0008284, GO:0008284, GO:0007595, GO:0007507, GO:0007416, GO:0007399, GO:0007275, GO:0007169, GO:0007169, GO:0007165, GO:0001934, GO:0001755, GO:0000165, negative regulation of neuron migration, regulation of cell motility, positive regulation of protein localization to cell surface, cellular response to epidermal growth factor stimulus, positive regulation of ERK1 and ERK2 cascade, cardiac muscle tissue regeneration, mammary gland alveolus development, mammary gland epithelial cell differentiation, positive regulation of cardiac muscle cell proliferation, positive regulation of protein kinase B signaling, protein autophosphorylation, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription, DNA-templated, cell fate commitment, mitochondrial fragmentation involved in apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, ERBB2 signaling pathway, positive regulation of kinase activity, regulation of cell migration, olfactory bulb interneuron differentiation, central nervous system morphogenesis, peptidyl-tyrosine phosphorylation, cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, embryonic pattern specification, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, lactation, heart development, synapse assembly, nervous system development, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, positive regulation of protein phosphorylation, neural crest cell migration, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000178573 chr16 79585843 79600714 - MAF protein_coding The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 4094 GO:0005737, GO:0005634, GO:0000785, GO:0000785, cytoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070306, GO:0048839, GO:0048468, GO:0045944, GO:0032330, GO:0006366, GO:0006357, GO:0001816, GO:0000122, lens fiber cell differentiation, inner ear development, cell development, positive regulation of transcription by RNA polymerase II, regulation of chondrocyte differentiation, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, cytokine production, negative regulation of transcription by RNA polymerase II, 113 99 222 216 84 196 160 63 191 ENSG00000178585 chr1 9848276 9910336 - CTNNBIP1 protein_coding The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 56998 GO:0030877, GO:0030877, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, beta-catenin destruction complex, beta-catenin destruction complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0070016, GO:0008013, GO:0008013, GO:0005515, armadillo repeat domain binding, beta-catenin binding, beta-catenin binding, protein binding, GO:0072201, GO:0060633, GO:0048662, GO:0045669, GO:0045657, GO:0043433, GO:0043392, GO:0032091, GO:0031333, GO:0030178, GO:0016055, GO:0009952, GO:0002528, GO:0001658, negative regulation of mesenchymal cell proliferation, negative regulation of transcription initiation from RNA polymerase II promoter, negative regulation of smooth muscle cell proliferation, positive regulation of osteoblast differentiation, positive regulation of monocyte differentiation, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA binding, negative regulation of protein binding, negative regulation of protein-containing complex assembly, negative regulation of Wnt signaling pathway, Wnt signaling pathway, anterior/posterior pattern specification, regulation of vascular permeability involved in acute inflammatory response, branching involved in ureteric bud morphogenesis, 52 114 117 37 149 89 41 102 67 ENSG00000178586 chr2 240045077 240047027 - OR6B3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 150681 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000178591 chr20 87250 97094 + DEFB125 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]. 245938 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000178596 chr1 94302038 94303022 + GAPDHP29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000178597 chr4 7430294 7434973 - PSAPL1 protein_coding This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]. 768239 GO:0005829, GO:0005764, GO:0005615, cytosol, lysosome, extracellular space, GO:0060742, GO:0060736, GO:0019216, GO:0007193, GO:0006665, epithelial cell differentiation involved in prostate gland development, prostate gland growth, regulation of lipid metabolic process, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, sphingolipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000178602 chr2 240139026 240144562 - OTOS protein_coding Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]. 150677 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0007605, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000178605 chrX 304529 318819 - GTPBP6 protein_coding This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]. 8225 GO:0005737, cytoplasm, GO:0046872, GO:0043022, GO:0005525, metal ion binding, ribosome binding, GTP binding, 0 0 0 0 0 0 0 0 0 ENSG00000178607 chr17 64039142 64130819 - ERN1 protein_coding This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017]. 2081 GO:1990630, GO:1990604, GO:1990604, GO:1990597, GO:1990332, GO:0030176, GO:0005789, GO:0005783, GO:0005739, GO:0005737, GO:0005637, IRE1-RACK1-PP2A complex, IRE1-TRAF2-ASK1 complex, IRE1-TRAF2-ASK1 complex, AIP1-IRE1 complex, Ire1 complex, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, cytoplasm, nuclear inner membrane, GO:0106311, GO:0106310, GO:0051879, GO:0051082, GO:0043531, GO:0042803, GO:0042803, GO:0042802, GO:0030544, GO:0019899, GO:0005524, GO:0005515, GO:0005161, GO:0004674, GO:0004674, GO:0004521, GO:0004521, GO:0000287, protein threonine kinase activity, protein serine kinase activity, Hsp90 protein binding, unfolded protein binding, ADP binding, protein homodimerization activity, protein homodimerization activity, identical protein binding, Hsp70 protein binding, enzyme binding, ATP binding, protein binding, platelet-derived growth factor receptor binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, endoribonuclease activity, endoribonuclease activity, magnesium ion binding, GO:1990579, GO:1904707, GO:1901142, GO:1900103, GO:0098787, GO:0090502, GO:0071333, GO:0070059, GO:0070054, GO:0070054, GO:0070054, GO:0046777, GO:0036498, GO:0036498, GO:0036498, GO:0036498, GO:0036289, GO:0035924, GO:0034976, GO:0034620, GO:0034620, GO:0033120, GO:0016241, GO:0007257, GO:0007050, GO:0006468, GO:0006402, GO:0006379, GO:0001935, peptidyl-serine trans-autophosphorylation, positive regulation of vascular associated smooth muscle cell proliferation, insulin metabolic process, positive regulation of endoplasmic reticulum unfolded protein response, mRNA cleavage involved in mRNA processing, RNA phosphodiester bond hydrolysis, endonucleolytic, cellular response to glucose stimulus, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, mRNA splicing, via endonucleolytic cleavage and ligation, mRNA splicing, via endonucleolytic cleavage and ligation, mRNA splicing, via endonucleolytic cleavage and ligation, protein autophosphorylation, IRE1-mediated unfolded protein response, IRE1-mediated unfolded protein response, IRE1-mediated unfolded protein response, IRE1-mediated unfolded protein response, peptidyl-serine autophosphorylation, cellular response to vascular endothelial growth factor stimulus, response to endoplasmic reticulum stress, cellular response to unfolded protein, cellular response to unfolded protein, positive regulation of RNA splicing, regulation of macroautophagy, activation of JUN kinase activity, cell cycle arrest, protein phosphorylation, mRNA catabolic process, mRNA cleavage, endothelial cell proliferation, 2190 2660 2479 2043 2694 2612 2158 2112 2236 ENSG00000178623 chr2 240605431 240631259 + GPR35 protein_coding 2859 GO:0005887, GO:0005887, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0016494, GO:0004930, GO:0004930, C-X-C chemokine receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:1904456, GO:1901386, GO:0070098, GO:0070098, GO:0051482, GO:0035025, GO:0007204, GO:0007186, GO:0007010, negative regulation of neuronal action potential, negative regulation of voltage-gated calcium channel activity, chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of Rho protein signal transduction, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cytoskeleton organization, 9 21 44 29 7 40 24 7 14 ENSG00000178631 chr3 139493809 139494937 + ACTG1P1 processed_pseudogene 0 0 0 1 0 1 0 1 4 ENSG00000178636 chr4 119192773 119212644 - AC092656.1 transcribed_processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000178645 chr10 49679651 49710261 + C10orf53 protein_coding 282966 0 0 0 0 0 0 0 0 0 ENSG00000178654 chr9 7597823 7598377 + PPIAP33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000178660 chr3 94506766 94507620 - ARMC10P1 processed_pseudogene 0 0 3 0 0 1 0 0 0 ENSG00000178662 chr2 165469647 165689407 + CSRNP3 protein_coding 80034 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0043565, GO:0043565, GO:0003700, GO:0001228, GO:0000981, GO:0000981, sequence-specific DNA binding, sequence-specific DNA binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0045944, GO:0043065, GO:0010923, GO:0006915, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of apoptotic process, negative regulation of phosphatase activity, apoptotic process, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000178665 chr7 55887475 55942530 + ZNF713 protein_coding The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene. This mutation is thought to effect the expression of this gene and it has been proposed that it may be associated with Autistic Spectrum Disorder. [provided by RefSeq, Jul 2016]. 349075 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1 1 5 9 3 10 2 2 5 ENSG00000178685 chr8 143977153 144012772 - PARP10 protein_coding Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008]. 84875 GO:0005829, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005730, GO:0005634, GO:0005634, cytosol, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleolus, nucleus, nucleus, GO:1990404, GO:1990404, GO:1990404, GO:0070530, GO:0005515, GO:0003950, GO:0003950, GO:0003714, protein ADP-ribosylase activity, protein ADP-ribosylase activity, protein ADP-ribosylase activity, K63-linked polyubiquitin modification-dependent protein binding, protein binding, NAD+ ADP-ribosyltransferase activity, NAD+ ADP-ribosyltransferase activity, transcription corepressor activity, GO:1903507, GO:1900045, GO:0140289, GO:0140289, GO:0070213, GO:0070213, GO:0070212, GO:0070212, GO:0070212, GO:0048147, GO:0045071, GO:0034356, GO:0032088, GO:0019985, GO:0010847, GO:0010629, GO:0010629, GO:0006471, negative regulation of nucleic acid-templated transcription, negative regulation of protein K63-linked ubiquitination, protein mono-ADP-ribosylation, protein mono-ADP-ribosylation, protein auto-ADP-ribosylation, protein auto-ADP-ribosylation, protein poly-ADP-ribosylation, protein poly-ADP-ribosylation, protein poly-ADP-ribosylation, negative regulation of fibroblast proliferation, negative regulation of viral genome replication, NAD biosynthesis via nicotinamide riboside salvage pathway, negative regulation of NF-kappaB transcription factor activity, translesion synthesis, regulation of chromatin assembly, negative regulation of gene expression, negative regulation of gene expression, protein ADP-ribosylation, 672 542 706 429 482 500 508 415 460 ENSG00000178690 chr18 54587757 54599493 + DYNAP protein_coding 284254 GO:0016021, GO:0005886, GO:0005886, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, plasma membrane, plasma membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0005515, protein binding, GO:1901625, GO:0042981, GO:0032148, GO:0032148, GO:0008284, cellular response to ergosterol, regulation of apoptotic process, activation of protein kinase B activity, activation of protein kinase B activity, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000178691 chr17 31937018 32001045 + SUZ12 protein_coding This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]. 23512 GO:0035098, GO:0035098, GO:0035098, GO:0032993, GO:0016604, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001739, ESC/E(Z) complex, ESC/E(Z) complex, ESC/E(Z) complex, protein-DNA complex, nuclear body, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, sex chromatin, GO:1990841, GO:0046976, GO:0046872, GO:0042054, GO:0042054, GO:0042054, GO:0035064, GO:0031490, GO:0005515, GO:0003723, GO:0001226, GO:0000978, promoter-specific chromatin binding, histone methyltransferase activity (H3-K27 specific), metal ion binding, histone methyltransferase activity, histone methyltransferase activity, histone methyltransferase activity, methylated histone binding, chromatin DNA binding, protein binding, RNA binding, RNA polymerase II transcription corepressor binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070734, GO:0070317, GO:0045814, GO:0045596, GO:0016574, GO:0008284, GO:0000122, histone H3-K27 methylation, negative regulation of G0 to G1 transition, negative regulation of gene expression, epigenetic, negative regulation of cell differentiation, histone ubiquitination, positive regulation of cell population proliferation, negative regulation of transcription by RNA polymerase II, 655 586 768 350 489 482 382 413 340 ENSG00000178694 chr3 94062916 94128545 + NSUN3 protein_coding 63899 GO:0005762, GO:0005759, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial matrix, mitochondrion, GO:0016428, GO:0008168, GO:0000049, tRNA (cytosine-5-)-methyltransferase activity, methyltransferase activity, tRNA binding, GO:0070129, GO:0031167, GO:0002127, GO:0001510, regulation of mitochondrial translation, rRNA methylation, tRNA wobble base cytosine methylation, RNA methylation, 130 87 114 97 128 122 142 60 117 ENSG00000178695 chr13 76880166 76886390 - KCTD12 protein_coding 115207 GO:0045211, GO:0042995, GO:0042734, postsynaptic membrane, cell projection, presynaptic membrane, GO:0042802, GO:0005515, GO:0003723, identical protein binding, protein binding, RNA binding, GO:0051260, protein homooligomerization, 698 709 1182 103 313 227 156 315 218 ENSG00000178700 chr3 94047836 94063389 - DHFR2 protein_coding 200895 GO:0005759, GO:0005743, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0050661, GO:0004146, GO:0004146, GO:0003729, NADP binding, dihydrofolate reductase activity, dihydrofolate reductase activity, mRNA binding, GO:0055114, GO:0046655, GO:0046654, GO:0046654, GO:0046653, GO:0046452, GO:0046105, GO:0006730, oxidation-reduction process, folic acid metabolic process, tetrahydrofolate biosynthetic process, tetrahydrofolate biosynthetic process, tetrahydrofolate metabolic process, dihydrofolate metabolic process, thymidine biosynthetic process, one-carbon metabolic process, 35 28 33 28 21 40 27 18 24 ENSG00000178715 chr1 15828232 15828669 + AL450998.1 processed_pseudogene 4 2 2 1 7 10 4 9 6 ENSG00000178718 chr15 74954416 74957464 - RPP25 protein_coding 54913 GO:0034451, GO:0030681, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000172, GO:0000172, centriolar satellite, multimeric ribonuclease P complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, ribonuclease MRP complex, ribonuclease MRP complex, GO:0033204, GO:0005515, GO:0004526, GO:0003723, GO:0003723, ribonuclease P RNA binding, protein binding, ribonuclease P activity, RNA binding, RNA binding, GO:0090502, GO:0006364, GO:0001682, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, rRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, tRNA 5'-leader removal, 1 0 1 4 2 5 3 0 2 ENSG00000178719 chr8 143990058 143993415 + GRINA protein_coding 2907 GO:0016021, GO:0005794, GO:0005783, integral component of membrane, Golgi apparatus, endoplasmic reticulum, GO:0044325, GO:0005515, ion channel binding, protein binding, GO:1902236, GO:0032469, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, endoplasmic reticulum calcium ion homeostasis, 1502 1167 1821 607 733 646 850 674 772 ENSG00000178722 chr5 61637708 61751763 + C5orf64 processed_transcript 285668 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 2 ENSG00000178723 chr9 34917175 34918296 + GLULP4 processed_pseudogene 7 0 0 0 0 1 1 1 8 ENSG00000178726 chr20 23045633 23049741 - THBD protein_coding The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]. 7056 GO:0016327, GO:0009986, GO:0005887, GO:0005886, GO:0005774, GO:0005615, apicolateral plasma membrane, cell surface, integral component of plasma membrane, plasma membrane, vacuolar membrane, extracellular space, GO:0038023, GO:0005515, GO:0005509, GO:0004888, signaling receptor activity, protein binding, calcium ion binding, transmembrane signaling receptor activity, GO:0051918, GO:0051591, GO:0050900, GO:0032496, GO:0030195, GO:0010544, GO:0010165, GO:0007596, GO:0007565, negative regulation of fibrinolysis, response to cAMP, leukocyte migration, response to lipopolysaccharide, negative regulation of blood coagulation, negative regulation of platelet activation, response to X-ray, blood coagulation, female pregnancy, 843 1631 2364 140 1175 472 182 1277 476 ENSG00000178732 chr3 194394821 194398354 - GP5 protein_coding Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010]. 2814 GO:0070062, GO:0005887, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0030168, GO:0007597, GO:0007596, GO:0007155, platelet activation, blood coagulation, intrinsic pathway, blood coagulation, cell adhesion, 5 1 2 2 1 6 14 5 5 ENSG00000178734 chr13 75871038 75883811 + LMO7DN lincRNA 729420 0 0 0 1 0 0 2 0 0 ENSG00000178741 chr15 74919791 74938168 - COX5A protein_coding Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]. 9377 GO:0005751, GO:0005751, GO:0005751, GO:0005743, GO:0005743, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex IV, mitochondrial inner membrane, mitochondrial inner membrane, GO:0046872, GO:0009055, GO:0005515, GO:0004129, metal ion binding, electron transfer activity, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0006123, GO:0006123, proton transmembrane transport, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, 90 60 99 65 66 94 40 74 82 ENSG00000178750 chr3 94014369 94028610 - STX19 protein_coding 415117 GO:0048787, GO:0031201, GO:0016021, GO:0012505, GO:0008021, GO:0005886, presynaptic active zone membrane, SNARE complex, integral component of membrane, endomembrane system, synaptic vesicle, plasma membrane, GO:0005515, GO:0005484, GO:0000149, protein binding, SNAP receptor activity, SNARE binding, GO:0048278, GO:0031629, GO:0006906, GO:0006887, GO:0006886, vesicle docking, synaptic vesicle fusion to presynaptic active zone membrane, vesicle fusion, exocytosis, intracellular protein transport, 2 9 7 2 0 0 3 5 7 ENSG00000178752 chr2 238158982 238168900 + ERFE protein_coding 151176 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005179, GO:0005179, hormone activity, hormone activity, GO:2000193, GO:0046628, GO:0046326, GO:0045721, GO:0019217, GO:0007165, GO:0006879, positive regulation of fatty acid transport, positive regulation of insulin receptor signaling pathway, positive regulation of glucose import, negative regulation of gluconeogenesis, regulation of fatty acid metabolic process, signal transduction, cellular iron ion homeostasis, 0 1 0 0 1 0 0 1 0 ENSG00000178761 chr15 74899987 74907121 - FAM219B protein_coding 57184 GO:0005515, protein binding, 106 110 128 162 141 220 147 115 178 ENSG00000178762 chr6 25731782 25732091 - HIST1H2BPS1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000178764 chr8 122781394 122974512 + ZHX2 protein_coding The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]. 22882 GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, nucleus, chromatin, GO:0046982, GO:0046872, GO:0042803, GO:0042802, GO:0005515, GO:0003677, GO:0000981, GO:0000981, protein heterodimerization activity, metal ion binding, protein homodimerization activity, identical protein binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0060040, GO:0045892, GO:0045665, GO:0035019, GO:0006402, GO:0006357, GO:0000122, retinal bipolar neuron differentiation, negative regulation of transcription, DNA-templated, negative regulation of neuron differentiation, somatic stem cell population maintenance, mRNA catabolic process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 343 418 454 232 379 311 243 287 320 ENSG00000178772 chr3 194339765 194351328 - CPN2 protein_coding 1370 GO:0072562, GO:0070062, GO:0031012, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, extracellular matrix, extracellular space, extracellular region, extracellular region, GO:0030234, enzyme regulator activity, GO:0050821, GO:0050790, GO:0030449, protein stabilization, regulation of catalytic activity, regulation of complement activation, 0 0 0 0 0 0 0 0 0 ENSG00000178773 chr16 89575768 89597246 + CPNE7 protein_coding This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. 27132 GO:0070062, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005634, extracellular exosome, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0046872, GO:0005544, GO:0005515, GO:0005215, metal ion binding, calcium-dependent phospholipid binding, protein binding, transporter activity, GO:0071277, GO:0071277, GO:0046474, GO:0006629, cellular response to calcium ion, cellular response to calcium ion, glycerophospholipid biosynthetic process, lipid metabolic process, 0 0 2 6 2 0 1 0 1 ENSG00000178776 chr5 147880726 147906538 - C5orf46 protein_coding 389336 GO:0070062, extracellular exosome, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000178789 chr17 74521174 74531474 - CD300LB protein_coding CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008]. 124599 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004888, transmembrane signaling receptor activity, GO:0050776, GO:0045087, regulation of immune response, innate immune response, 613 773 1102 284 561 343 287 441 345 ENSG00000178795 chr11 77216558 77301687 - GDPD4 protein_coding 220032 GO:0016021, integral component of membrane, GO:0046872, GO:0008081, metal ion binding, phosphoric diester hydrolase activity, GO:0006629, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000178796 chr1 151710433 151729805 + RIIAD1 protein_coding 284485 1 0 0 0 0 0 0 0 0 ENSG00000178802 chr15 74890005 74902219 + MPI protein_coding Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 4351 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0008270, GO:0004476, GO:0004476, zinc ion binding, mannose-6-phosphate isomerase activity, mannose-6-phosphate isomerase activity, GO:0061611, GO:0009298, GO:0009298, GO:0009298, GO:0006486, GO:0000032, mannose to fructose-6-phosphate metabolic process, GDP-mannose biosynthetic process, GDP-mannose biosynthetic process, GDP-mannose biosynthetic process, protein glycosylation, cell wall mannoprotein biosynthetic process, 84 87 118 184 130 233 174 105 187 ENSG00000178803 chr22 24429206 24495074 - ADORA2A-AS1 antisense 646023 429 393 912 962 1143 1088 1335 1100 955 ENSG00000178804 chr3 129543214 129551467 + H1FOO protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a replication-independent histone that is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The related mouse gene is expressed only in oocytes. [provided by RefSeq, Oct 2015]. 132243 GO:0070062, GO:0005737, GO:0005730, GO:0005634, GO:0005634, GO:0000786, extracellular exosome, cytoplasm, nucleolus, nucleus, nucleus, nucleosome, GO:0031492, GO:0031492, GO:0003690, nucleosomal DNA binding, nucleosomal DNA binding, double-stranded DNA binding, GO:2000737, GO:0051321, GO:0045910, GO:0044030, GO:0031936, GO:0030261, GO:0016584, GO:0016584, GO:0006334, negative regulation of stem cell differentiation, meiotic cell cycle, negative regulation of DNA recombination, regulation of DNA methylation, negative regulation of chromatin silencing, chromosome condensation, nucleosome positioning, nucleosome positioning, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000178809 chr7 75395063 75410996 + TRIM73 protein_coding 375593 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0016567, protein ubiquitination, 3 3 4 5 9 6 1 2 0 ENSG00000178814 chr8 144051266 144063965 - OPLAH protein_coding The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]. 26873 GO:0005829, GO:0005829, cytosol, cytosol, GO:0042802, GO:0017168, GO:0005524, GO:0005515, identical protein binding, 5-oxoprolinase (ATP-hydrolyzing) activity, ATP binding, protein binding, GO:0006750, GO:0006749, glutathione biosynthetic process, glutathione metabolic process, 74 103 249 58 81 136 50 76 92 ENSG00000178821 chr1 1917590 1919273 - TMEM52 protein_coding 339456 GO:0016021, integral component of membrane, 0 0 2 0 0 0 0 2 0 ENSG00000178826 chr7 143279957 143288048 + TMEM139 protein_coding 135932 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1 0 0 10 0 0 3 0 0 ENSG00000178828 chr1 19814029 19815278 - RNF186 protein_coding 54546 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0061630, GO:0046872, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0070585, GO:0070585, GO:0070534, GO:0070534, GO:0070059, GO:0070059, GO:0051865, GO:0051865, GO:0043161, GO:0043161, GO:0035519, GO:0035519, protein localization to mitochondrion, protein localization to mitochondrion, protein K63-linked ubiquitination, protein K63-linked ubiquitination, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, protein autoubiquitination, protein autoubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, protein K29-linked ubiquitination, protein K29-linked ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000178836 chr2 233754305 233755345 - AC114812.1 transcribed_processed_pseudogene 100286922 0 0 0 0 0 0 0 0 0 ENSG00000178852 chr17 47323290 47441312 + EFCAB13 protein_coding 124989 4 5 7 14 9 9 6 1 8 ENSG00000178860 chr8 71841549 71844468 - MSC protein_coding The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008]. 9242 GO:0005654, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:1990830, GO:0060539, GO:0060021, GO:0032502, GO:0014707, GO:0007519, GO:0006357, GO:0006355, GO:0000122, cellular response to leukemia inhibitory factor, diaphragm development, roof of mouth development, developmental process, branchiomeric skeletal muscle development, skeletal muscle tissue development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 11 6 11 1 0 6 8 0 16 ENSG00000178878 chr12 12725917 12829975 + APOLD1 protein_coding APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]. 81575 GO:0016021, GO:0005886, GO:0005829, GO:0005654, GO:0005576, integral component of membrane, plasma membrane, cytosol, nucleoplasm, extracellular region, GO:0008289, lipid binding, GO:0045601, GO:0042157, GO:0042118, GO:0030154, GO:0006869, GO:0001666, GO:0001525, regulation of endothelial cell differentiation, lipoprotein metabolic process, endothelial cell activation, cell differentiation, lipid transport, response to hypoxia, angiogenesis, 20 27 14 17 39 20 39 28 10 ENSG00000178882 chr12 123973241 124316024 + RFLNA protein_coding 144347 GO:0032432, GO:0005737, actin filament bundle, cytoplasm, GO:0031005, GO:0005515, filamin binding, protein binding, GO:1900158, GO:0061572, GO:0061182, GO:0048705, negative regulation of bone mineralization involved in bone maturation, actin filament bundle organization, negative regulation of chondrocyte development, skeletal system morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000178896 chr8 144078626 144080647 + EXOSC4 protein_coding 54512 GO:0045111, GO:0035327, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005634, GO:0000178, GO:0000177, GO:0000176, intermediate filament cytoskeleton, transcriptionally active chromatin, cytosol, cytosol, cytoplasm, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleus, exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), GO:0035925, GO:0005515, GO:0004532, GO:0000175, mRNA 3'-UTR AU-rich region binding, protein binding, exoribonuclease activity, 3'-5'-exoribonuclease activity, GO:0090503, GO:0071051, GO:0071044, GO:0071028, GO:0071028, GO:0051607, GO:0045006, GO:0043928, GO:0043488, GO:0034475, GO:0034427, GO:0030307, GO:0016075, GO:0006364, GO:0006364, GO:0000956, GO:0000460, RNA phosphodiester bond hydrolysis, exonucleolytic, polyadenylation-dependent snoRNA 3'-end processing, histone mRNA catabolic process, nuclear mRNA surveillance, nuclear mRNA surveillance, defense response to virus, DNA deamination, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, U4 snRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', positive regulation of cell growth, rRNA catabolic process, rRNA processing, rRNA processing, nuclear-transcribed mRNA catabolic process, maturation of 5.8S rRNA, 58 31 123 20 45 48 19 19 32 ENSG00000178904 chr19 32405543 32485895 + DPY19L3 protein_coding 147991 GO:0016021, GO:0005637, integral component of membrane, nuclear inner membrane, GO:0000030, mannosyltransferase activity, GO:0018406, protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan, 868 500 772 700 623 652 767 450 583 ENSG00000178913 chr5 141260225 141320821 - TAF7 protein_coding The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]. 6879 GO:0071339, GO:0033276, GO:0005794, GO:0005669, GO:0005669, GO:0005667, GO:0005654, GO:0005654, MLL1 complex, transcription factor TFTC complex, Golgi apparatus, transcription factor TFIID complex, transcription factor TFIID complex, transcription regulator complex, nucleoplasm, nucleoplasm, GO:0106140, GO:0061628, GO:0046982, GO:0046966, GO:0042809, GO:0035035, GO:0016251, GO:0016251, GO:0016251, GO:0008134, GO:0005515, GO:0001097, GO:0000976, P-TEFb complex binding, H3K27me3 modified histone binding, protein heterodimerization activity, thyroid hormone receptor binding, vitamin D receptor binding, histone acetyltransferase binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, transcription factor binding, protein binding, TFIIH-class transcription factor complex binding, transcription regulatory region sequence-specific DNA binding, GO:1901796, GO:0090241, GO:0051123, GO:0045944, GO:0045892, GO:0045347, GO:0045344, GO:0035067, GO:0030520, GO:0006469, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006357, GO:0006352, GO:0000296, GO:0000122, regulation of signal transduction by p53 class mediator, negative regulation of histone H4 acetylation, RNA polymerase II preinitiation complex assembly, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of MHC class II biosynthetic process, negative regulation of MHC class I biosynthetic process, negative regulation of histone acetylation, intracellular estrogen receptor signaling pathway, negative regulation of protein kinase activity, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, DNA-templated transcription, initiation, spermine transport, negative regulation of transcription by RNA polymerase II, 5351 4469 5565 3279 4459 4516 3500 3755 3715 ENSG00000178917 chr3 44494847 44510636 - ZNF852 protein_coding 285346 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 39 57 70 26 38 60 51 36 21 ENSG00000178919 chr9 97853254 97856715 + FOXE1 protein_coding This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]. 2304 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0043565, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904888, GO:0060465, GO:0060023, GO:0060022, GO:0048562, GO:0048538, GO:0045893, GO:0045892, GO:0031069, GO:0030878, GO:0030878, GO:0030154, GO:0016477, GO:0009653, GO:0009653, GO:0006590, GO:0006357, GO:0006357, GO:0006357, GO:0000122, GO:0000122, cranial skeletal system development, pharynx development, soft palate development, hard palate development, embryonic organ morphogenesis, thymus development, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, hair follicle morphogenesis, thyroid gland development, thyroid gland development, cell differentiation, cell migration, anatomical structure morphogenesis, anatomical structure morphogenesis, thyroid hormone generation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 0 0 1 1 0 0 1 0 ENSG00000178921 chr17 8247618 8270491 + PFAS protein_coding Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]. 5198 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0046872, GO:0005524, GO:0004642, GO:0004642, metal ion binding, ATP binding, phosphoribosylformylglycinamidine synthase activity, phosphoribosylformylglycinamidine synthase activity, GO:0097065, GO:0009168, GO:0006541, GO:0006189, GO:0006189, anterior head development, purine ribonucleoside monophosphate biosynthetic process, glutamine metabolic process, 'de novo' IMP biosynthetic process, 'de novo' IMP biosynthetic process, 51 38 36 72 52 50 71 23 43 ENSG00000178922 chr1 43451003 43453989 - HYI protein_coding This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 81888 GO:0005575, cellular_component, GO:0008903, GO:0005515, GO:0003674, hydroxypyruvate isomerase activity, protein binding, molecular_function, GO:0046487, GO:0008150, glyoxylate metabolic process, biological_process, 88 94 83 208 228 228 233 84 209 ENSG00000178927 chr17 82442589 82450829 - CYBC1 protein_coding 79415 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0045728, GO:0045087, respiratory burst after phagocytosis, innate immune response, 1894 1711 2379 1324 1613 1863 1511 1336 1605 ENSG00000178928 chr19 47801243 47819051 - TPRX1 protein_coding Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]. 284355 GO:0005634, GO:0000785, nucleus, chromatin, GO:0003677, GO:0000981, GO:0000981, GO:0000978, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 2 0 0 0 0 0 ENSG00000178934 chr19 38789211 38791749 + LGALS7B protein_coding The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:3963) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008]. 653499 GO:0070062, GO:0005829, GO:0005634, GO:0005615, extracellular exosome, cytosol, nucleus, extracellular space, GO:0030246, GO:0016936, GO:0005515, carbohydrate binding, galactoside binding, protein binding, GO:2000562, GO:0032689, GO:0010628, GO:0007157, GO:0006915, negative regulation of CD4-positive, alpha-beta T cell proliferation, negative regulation of interferon-gamma production, positive regulation of gene expression, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000178935 chr19 57803841 57814913 - ZNF552 protein_coding 79818 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 223 174 191 119 196 173 149 150 163 ENSG00000178947 chrX 135421943 135428074 + SMIM10L2A protein_coding This gene encodes a highly conserved small protein that contains a conserved motif (DUF4560) and may function as an integral membrane protein. This transcript was also shown to associate with enhancer chromatin and therefore may also function as an RNA to regulate enhancers. [provided by RefSeq, Jan 2017]. 399668 3 1 5 4 0 4 4 3 4 ENSG00000178950 chr4 849276 932373 - GAK protein_coding In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 2580 GO:0098793, GO:0048471, GO:0043231, GO:0043231, GO:0031982, GO:0031982, GO:0016020, GO:0005925, GO:0005829, GO:0005794, GO:0005737, presynapse, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, vesicle, vesicle, membrane, focal adhesion, cytosol, Golgi apparatus, cytoplasm, GO:0106311, GO:0106310, GO:0051087, GO:0030332, GO:0030276, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, chaperone binding, cyclin binding, clathrin binding, ATP binding, protein binding, protein serine/threonine kinase activity, GO:1905224, GO:0090160, GO:0072659, GO:0072583, GO:0072583, GO:0072318, GO:0072318, GO:0061024, GO:0051085, GO:0034067, GO:0016191, GO:0010977, GO:0007049, GO:0007030, GO:0007029, GO:0006898, GO:0006468, clathrin-coated pit assembly, Golgi to lysosome transport, protein localization to plasma membrane, clathrin-dependent endocytosis, clathrin-dependent endocytosis, clathrin coat disassembly, clathrin coat disassembly, membrane organization, chaperone cofactor-dependent protein refolding, protein localization to Golgi apparatus, synaptic vesicle uncoating, negative regulation of neuron projection development, cell cycle, Golgi organization, endoplasmic reticulum organization, receptor-mediated endocytosis, protein phosphorylation, 1699 1965 2325 1446 1808 1672 1678 1350 1345 ENSG00000178951 chr19 4044364 4066945 - ZBTB7A protein_coding 51341 GO:0070418, GO:0070418, GO:0035861, GO:0016581, GO:0005737, GO:0005634, GO:0005634, DNA-dependent protein kinase complex, DNA-dependent protein kinase complex, site of double-strand break, NuRD complex, cytoplasm, nucleus, nucleus, GO:1990837, GO:0050681, GO:0050681, GO:0046872, GO:0046332, GO:0046332, GO:0035035, GO:0033613, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0001222, GO:0001222, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, androgen receptor binding, androgen receptor binding, metal ion binding, SMAD binding, SMAD binding, histone acetyltransferase binding, activating transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription corepressor binding, transcription corepressor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000677, GO:0097680, GO:0060766, GO:0051092, GO:0051090, GO:0045892, GO:0045892, GO:0045892, GO:0045746, GO:0045444, GO:0043249, GO:0043249, GO:0042981, GO:0034504, GO:0030512, GO:0030183, GO:0006357, GO:0006357, GO:0006357, GO:0006351, GO:0006338, GO:0006325, GO:0006110, GO:0000381, GO:0000122, regulation of transcription regulatory region DNA binding, double-strand break repair via classical nonhomologous end joining, negative regulation of androgen receptor signaling pathway, positive regulation of NF-kappaB transcription factor activity, regulation of DNA-binding transcription factor activity, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of Notch signaling pathway, fat cell differentiation, erythrocyte maturation, erythrocyte maturation, regulation of apoptotic process, protein localization to nucleus, negative regulation of transforming growth factor beta receptor signaling pathway, B cell differentiation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, transcription, DNA-templated, chromatin remodeling, chromatin organization, regulation of glycolytic process, regulation of alternative mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, 871 906 854 450 651 610 519 563 510 ENSG00000178952 chr16 28842411 28846408 - TUFM protein_coding This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]. 7284 GO:0070062, GO:0042645, GO:0016020, GO:0005739, GO:0005739, GO:0005739, extracellular exosome, mitochondrial nucleoid, membrane, mitochondrion, mitochondrion, mitochondrion, GO:0005525, GO:0005515, GO:0003924, GO:0003746, GO:0003746, GO:0003723, GTP binding, protein binding, GTPase activity, translation elongation factor activity, translation elongation factor activity, RNA binding, GO:0070125, GO:0045471, GO:0016032, GO:0006414, GO:0006414, mitochondrial translational elongation, response to ethanol, viral process, translational elongation, translational elongation, 272 241 170 254 265 270 208 198 187 ENSG00000178965 chr1 74568111 74673738 - ERICH3 protein_coding 127254 0 0 0 1 0 0 0 0 0 ENSG00000178966 chr9 83980711 84004074 + RMI1 protein_coding RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008]. 80010 GO:0031422, GO:0016604, GO:0016604, GO:0005654, GO:0005654, RecQ family helicase-topoisomerase III complex, nuclear body, nuclear body, nucleoplasm, nucleoplasm, GO:0005515, GO:0000166, protein binding, nucleotide binding, GO:1901796, GO:0042593, GO:0035264, GO:0009749, GO:0006260, GO:0002023, GO:0000724, GO:0000712, regulation of signal transduction by p53 class mediator, glucose homeostasis, multicellular organism growth, response to glucose, DNA replication, reduction of food intake in response to dietary excess, double-strand break repair via homologous recombination, resolution of meiotic recombination intermediates, 95 75 79 51 72 61 65 87 58 ENSG00000178971 chr17 8224821 8248095 - CTC1 protein_coding This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]. 80169 GO:1990879, GO:1990879, GO:1990879, GO:0005634, GO:0005634, GO:0000781, CST complex, CST complex, CST complex, nucleus, nucleus, chromosome, telomeric region, GO:0098505, GO:0042162, GO:0042162, GO:0005515, GO:0003697, GO:0003697, G-rich strand telomeric DNA binding, telomeric DNA binding, telomeric DNA binding, protein binding, single-stranded DNA binding, single-stranded DNA binding, GO:0090399, GO:0071425, GO:0048539, GO:0048538, GO:0048536, GO:0048146, GO:0045740, GO:0045740, GO:0035264, GO:0032211, GO:0016233, GO:0010833, GO:0010389, GO:0006974, GO:0000723, replicative senescence, hematopoietic stem cell proliferation, bone marrow development, thymus development, spleen development, positive regulation of fibroblast proliferation, positive regulation of DNA replication, positive regulation of DNA replication, multicellular organism growth, negative regulation of telomere maintenance via telomerase, telomere capping, telomere maintenance via telomere lengthening, regulation of G2/M transition of mitotic cell cycle, cellular response to DNA damage stimulus, telomere maintenance, 976 1008 1237 819 1193 1216 1022 866 955 ENSG00000178974 chr14 55271303 55361918 + FBXO34 protein_coding Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 55030 GO:0005515, protein binding, 909 549 1389 174 221 155 119 180 121 ENSG00000178977 chr17 8220642 8224043 - LINC00324 lincRNA 284029 GO:0030533, triplet codon-amino acid adaptor activity, GO:0006412, translation, 149 168 166 63 110 70 75 142 91 ENSG00000178980 chr19 47778572 47784686 + SELENOW protein_coding This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is highly expressed in skeletal muscle, heart and brain. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Studies in mouse show that this selenoprotein is involved in muscle growth and differentiation, and in the protection of neurons from oxidative stress during neuronal development. A retroprocessed pseudogene of this locus has been identified on chromosome 1. [provided by RefSeq, Aug 2017]. 6415 GO:0005829, cytosol, GO:0016209, antioxidant activity, GO:0098869, GO:0010269, cellular oxidant detoxification, response to selenium ion, 42 28 80 109 45 177 95 48 108 ENSG00000178982 chr19 38619082 38636955 + EIF3K protein_coding The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]. 27335 GO:0033290, GO:0016282, GO:0016020, GO:0005852, GO:0005852, GO:0005829, GO:0005829, GO:0005634, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, membrane, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, cytosol, nucleus, GO:0043022, GO:0005515, GO:0003743, GO:0003743, GO:0003743, ribosome binding, protein binding, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, GO:0006446, GO:0006413, GO:0006413, GO:0006413, GO:0001732, regulation of translational initiation, translational initiation, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, 411 413 472 363 460 540 411 381 369 ENSG00000178988 chr4 6707701 6709880 - MRFAP1L1 protein_coding 114932 GO:0042802, GO:0005515, identical protein binding, protein binding, 242 187 313 130 104 171 147 104 121 ENSG00000178996 chr5 54517759 54546585 + SNX18 protein_coding This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 112574 GO:0070062, GO:0070062, GO:0031410, GO:0031234, GO:0030659, GO:0030136, GO:0010008, extracellular exosome, extracellular exosome, cytoplasmic vesicle, extrinsic component of cytoplasmic side of plasma membrane, cytoplasmic vesicle membrane, clathrin-coated vesicle, endosome membrane, GO:0005546, GO:0005515, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0043547, GO:0036089, GO:0016197, GO:0015031, GO:0006897, GO:0006897, GO:0000281, positive regulation of GTPase activity, cleavage furrow formation, endosomal transport, protein transport, endocytosis, endocytosis, mitotic cytokinesis, 1330 816 934 368 803 813 462 738 706 ENSG00000178997 chr15 41182725 41230743 - EXD1 protein_coding 161829 GO:1990923, GO:0043186, PET complex, P granule, GO:0042803, GO:0008408, GO:0005515, GO:0003723, protein homodimerization activity, 3'-5' exonuclease activity, protein binding, RNA binding, GO:0090305, GO:0051321, GO:0034587, GO:0031047, nucleic acid phosphodiester bond hydrolysis, meiotic cell cycle, piRNA metabolic process, gene silencing by RNA, 0 0 0 0 1 0 0 0 0 ENSG00000178999 chr17 8204733 8210600 - AURKB protein_coding This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]. 9212 GO:1990023, GO:0097431, GO:0051233, GO:0032133, GO:0032133, GO:0032133, GO:0031616, GO:0030496, GO:0030496, GO:0010369, GO:0005876, GO:0005829, GO:0005819, GO:0005654, GO:0005654, GO:0005634, GO:0000779, GO:0000779, GO:0000776, mitotic spindle midzone, mitotic spindle pole, spindle midzone, chromosome passenger complex, chromosome passenger complex, chromosome passenger complex, spindle pole centrosome, midbody, midbody, chromocenter, spindle microtubule, cytosol, spindle, nucleoplasm, nucleoplasm, nucleus, condensed chromosome, centromeric region, condensed chromosome, centromeric region, kinetochore, GO:0106311, GO:0106310, GO:0046872, GO:0035174, GO:0035174, GO:0019900, GO:0005524, GO:0005515, GO:0004712, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, histone serine kinase activity, histone serine kinase activity, kinase binding, ATP binding, protein binding, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1905116, GO:1904355, GO:1901796, GO:0051983, GO:0051973, GO:0051256, GO:0051256, GO:0046777, GO:0044878, GO:0043988, GO:0036089, GO:0034644, GO:0034501, GO:0032467, GO:0032467, GO:0032466, GO:0032465, GO:0032212, GO:0032091, GO:0031145, GO:0016570, GO:0009838, GO:0008608, GO:0008283, GO:0007568, GO:0007094, GO:0007052, GO:0007051, GO:0006511, GO:0006468, GO:0002903, GO:0000122, positive regulation of lateral attachment of mitotic spindle microtubules to kinetochore, positive regulation of telomere capping, regulation of signal transduction by p53 class mediator, regulation of chromosome segregation, positive regulation of telomerase activity, mitotic spindle midzone assembly, mitotic spindle midzone assembly, protein autophosphorylation, mitotic cytokinesis checkpoint, histone H3-S28 phosphorylation, cleavage furrow formation, cellular response to UV, protein localization to kinetochore, positive regulation of cytokinesis, positive regulation of cytokinesis, negative regulation of cytokinesis, regulation of cytokinesis, positive regulation of telomere maintenance via telomerase, negative regulation of protein binding, anaphase-promoting complex-dependent catabolic process, histone modification, abscission, attachment of spindle microtubules to kinetochore, cell population proliferation, aging, mitotic spindle assembly checkpoint, mitotic spindle organization, spindle organization, ubiquitin-dependent protein catabolic process, protein phosphorylation, negative regulation of B cell apoptotic process, negative regulation of transcription by RNA polymerase II, 14 26 21 35 34 23 27 21 24 ENSG00000179002 chr1 18839599 18859682 - TAS1R2 protein_coding 80834 GO:1903767, GO:1903767, GO:0043235, GO:0016021, GO:0005887, GO:0005886, sweet taste receptor complex, sweet taste receptor complex, receptor complex, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0033041, GO:0033041, GO:0008527, GO:0008527, GO:0004930, sweet taste receptor activity, sweet taste receptor activity, taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0050916, GO:0050916, GO:0032467, GO:0007186, GO:0007186, GO:0001582, sensory perception of sweet taste, sensory perception of sweet taste, positive regulation of cytokinesis, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of sweet taste, 0 0 0 0 0 0 0 0 0 ENSG00000179008 chr14 60396469 60515543 - C14orf39 protein_coding 317761 GO:0005575, GO:0000801, GO:0000801, cellular_component, central element, central element, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0051090, GO:0048477, GO:0048477, GO:0010705, GO:0010705, GO:0007283, GO:0007283, GO:0007275, GO:0007129, GO:0007129, regulation of DNA-binding transcription factor activity, oogenesis, oogenesis, meiotic DNA double-strand break processing involved in reciprocal meiotic recombination, meiotic DNA double-strand break processing involved in reciprocal meiotic recombination, spermatogenesis, spermatogenesis, multicellular organism development, homologous chromosome pairing at meiosis, homologous chromosome pairing at meiosis, 1 5 1 3 0 0 0 0 1 ENSG00000179010 chr4 6640091 6642745 + MRFAP1 protein_coding This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 93621 GO:0048471, GO:0005654, perinuclear region of cytoplasm, nucleoplasm, GO:0005515, protein binding, 1549 1483 1618 596 787 677 722 906 593 ENSG00000179021 chr3 88149743 88168729 + C3orf38 protein_coding 285237 GO:0005634, nucleus, GO:0003674, molecular_function, GO:0043065, GO:0006915, positive regulation of apoptotic process, apoptotic process, 84 68 86 69 86 112 66 60 68 ENSG00000179023 chr1 18480982 18486126 + KLHDC7A protein_coding 127707 GO:0016021, integral component of membrane, 0 2 0 0 0 0 0 1 0 ENSG00000179028 chrX 52199840 52203235 + AC245177.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000179029 chr17 8173237 8176399 - TMEM107 protein_coding This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]. 84314 GO:0036038, GO:0036038, GO:0035869, GO:0016021, MKS complex, MKS complex, ciliary transition zone, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1905515, GO:1905515, GO:1904491, GO:0060271, GO:0060271, GO:0042733, GO:0021532, non-motile cilium assembly, non-motile cilium assembly, protein localization to ciliary transition zone, cilium assembly, cilium assembly, embryonic digit morphogenesis, neural tube patterning, 31 21 21 26 24 38 16 36 31 ENSG00000179031 chrX 100910712 100911489 + Z73417.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000179038 chr11 67195569 67197167 - AP001885.1 transcribed_processed_pseudogene 18 15 23 20 48 60 21 30 21 ENSG00000179041 chr8 66429028 66430733 + RRS1 protein_coding 23212 GO:0030687, GO:0005783, GO:0005730, GO:0005730, GO:0005654, GO:0001650, GO:0000794, preribosome, large subunit precursor, endoplasmic reticulum, nucleolus, nucleolus, nucleoplasm, fibrillar center, condensed nuclear chromosome, GO:0008097, GO:0005515, GO:0003723, 5S rRNA binding, protein binding, RNA binding, GO:1902570, GO:1901796, GO:0042273, GO:0042273, GO:0007080, GO:0002244, GO:0000447, GO:0000055, GO:0000027, protein localization to nucleolus, regulation of signal transduction by p53 class mediator, ribosomal large subunit biogenesis, ribosomal large subunit biogenesis, mitotic metaphase plate congression, hematopoietic progenitor cell differentiation, endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), ribosomal large subunit export from nucleus, ribosomal large subunit assembly, 7 1 11 16 2 18 28 5 17 ENSG00000179044 chr16 67184366 67190204 - EXOC3L1 protein_coding 283849 GO:0030141, GO:0030133, GO:0000145, GO:0000145, secretory granule, transport vesicle, exocyst, exocyst, GO:0005515, GO:0003674, GO:0000149, protein binding, molecular_function, SNARE binding, GO:0051601, GO:0030072, GO:0006887, GO:0006887, exocyst localization, peptide hormone secretion, exocytosis, exocytosis, 20 19 17 10 18 6 11 22 31 ENSG00000179046 chr4 188091273 188109603 - TRIML2 protein_coding This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 205860 GO:0005829, GO:0005737, GO:0005654, cytosol, cytoplasm, nucleoplasm, GO:0061630, GO:0042803, GO:0042802, GO:0019901, GO:0005515, ubiquitin protein ligase activity, protein homodimerization activity, identical protein binding, protein kinase binding, protein binding, GO:0051092, GO:0046596, GO:0045087, GO:0043123, GO:0032880, GO:0032526, GO:0016567, GO:0010508, GO:0010468, GO:0000209, positive regulation of NF-kappaB transcription factor activity, regulation of viral entry into host cell, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of protein localization, response to retinoic acid, protein ubiquitination, positive regulation of autophagy, regulation of gene expression, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000179051 chr1 17406760 17439724 - RCC2 protein_coding The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]. 55920 GO:1990023, GO:0034506, GO:0031901, GO:0030496, GO:0016020, GO:0005886, GO:0005874, GO:0005829, GO:0005730, mitotic spindle midzone, chromosome, centromeric core domain, early endosome membrane, midbody, membrane, plasma membrane, microtubule, cytosol, nucleolus, GO:0031267, GO:0019904, GO:0019901, GO:0008017, GO:0005515, GO:0005085, GO:0003723, small GTPase binding, protein domain specific binding, protein kinase binding, microtubule binding, protein binding, guanyl-nucleotide exchange factor activity, RNA binding, GO:1900027, GO:1900025, GO:0090630, GO:0072356, GO:0051987, GO:0051895, GO:0051301, GO:0048041, GO:0045184, GO:0034260, GO:0034260, GO:0030334, GO:0010971, GO:0010762, GO:0007229, GO:0007049, regulation of ruffle assembly, negative regulation of substrate adhesion-dependent cell spreading, activation of GTPase activity, chromosome passenger complex localization to kinetochore, positive regulation of attachment of spindle microtubules to kinetochore, negative regulation of focal adhesion assembly, cell division, focal adhesion assembly, establishment of protein localization, negative regulation of GTPase activity, negative regulation of GTPase activity, regulation of cell migration, positive regulation of G2/M transition of mitotic cell cycle, regulation of fibroblast migration, integrin-mediated signaling pathway, cell cycle, 66 99 280 124 79 273 132 68 111 ENSG00000179055 chr9 104694379 104695485 + OR13D1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 286365 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179057 chr11 18704305 18726230 - IGSF22 protein_coding 283284 0 5 2 3 1 11 2 0 1 ENSG00000179058 chr9 129612225 129620776 - C9orf50 protein_coding 375759 0 0 0 0 0 0 0 0 1 ENSG00000179059 chr4 187995771 188005050 + ZFP42 protein_coding 132625 GO:0031519, GO:0005737, GO:0005667, GO:0000785, PcG protein complex, cytoplasm, transcription regulator complex, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051321, GO:0008585, GO:0008584, GO:0006357, GO:0006355, meiotic cell cycle, female gonad development, male gonad development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000179066 chr19 35090930 35113664 + AC020907.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000179071 chr11 85684866 85686277 - CCDC89 protein_coding 220388 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, 0 0 0 2 0 0 0 0 0 ENSG00000179073 chr6 132608225 132609302 - TAAR3P transcribed_unprocessed_pseudogene 9288 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, GO:0001594, GO:0001594, G protein-coupled receptor activity, trace-amine receptor activity, trace-amine receptor activity, GO:0007606, GO:0007186, sensory perception of chemical stimulus, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179082 chr9 129321016 129324905 + C9orf106 lincRNA 23 30 15 8 19 6 14 20 12 ENSG00000179083 chrX 93674013 93712274 + FAM133A protein_coding 286499 GO:0005515, protein binding, 0 0 0 2 0 0 0 0 0 ENSG00000179085 chr1 155139891 155140595 - DPM3 protein_coding Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]. 54344 GO:0033185, GO:0033185, GO:0031501, GO:0030176, GO:0016020, GO:0005789, GO:0005783, dolichol-phosphate-mannose synthase complex, dolichol-phosphate-mannose synthase complex, mannosyltransferase complex, integral component of endoplasmic reticulum membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0008047, GO:0005515, GO:0004582, enzyme activator activity, protein binding, dolichyl-phosphate beta-D-mannosyltransferase activity, GO:0043085, GO:0035269, GO:0035268, GO:0031647, GO:0018406, GO:0018279, GO:0006506, GO:0006506, GO:0006506, GO:0005975, positive regulation of catalytic activity, protein O-linked mannosylation, protein mannosylation, regulation of protein stability, protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan, protein N-linked glycosylation via asparagine, GPI anchor biosynthetic process, GPI anchor biosynthetic process, GPI anchor biosynthetic process, carbohydrate metabolic process, 18 19 19 7 26 18 5 16 18 ENSG00000179088 chr12 103237591 103496010 - C12orf42 protein_coding 374470 0 2 9 8 1 8 12 5 2 ENSG00000179091 chr8 144095027 144097525 + CYC1 protein_coding This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]. 1537 GO:0016604, GO:0016021, GO:0016020, GO:0005829, GO:0005750, GO:0005743, GO:0005739, GO:0005739, GO:0005654, GO:0005634, nuclear body, integral component of membrane, membrane, cytosol, mitochondrial respiratory chain complex III, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, nucleus, GO:0046872, GO:0045155, GO:0045153, GO:0020037, GO:0005515, metal ion binding, electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity, electron transporter, transferring electrons within CoQH2-cytochrome c reductase complex activity, heme binding, protein binding, GO:0042776, GO:0033762, GO:0006122, GO:0006122, mitochondrial ATP synthesis coupled proton transport, response to glucagon, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, 44 48 96 53 66 63 71 43 76 ENSG00000179094 chr17 8140472 8156506 - PER1 protein_coding This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]. 5187 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0070888, GO:0031625, GO:0031490, GO:0019900, GO:0005515, GO:0001222, GO:0000978, GO:0000976, E-box binding, ubiquitin protein ligase binding, chromatin DNA binding, kinase binding, protein binding, transcription corepressor binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2000323, GO:1900744, GO:1900015, GO:0097167, GO:0070932, GO:0051591, GO:0046329, GO:0045944, GO:0045892, GO:0043967, GO:0043966, GO:0043153, GO:0043153, GO:0043124, GO:0042752, GO:0042634, GO:0032922, GO:0032922, GO:0010608, GO:0009649, GO:0007623, GO:0002028, GO:0000122, GO:0000122, negative regulation of glucocorticoid receptor signaling pathway, regulation of p38MAPK cascade, regulation of cytokine production involved in inflammatory response, circadian regulation of translation, histone H3 deacetylation, response to cAMP, negative regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, histone H4 acetylation, histone H3 acetylation, entrainment of circadian clock by photoperiod, entrainment of circadian clock by photoperiod, negative regulation of I-kappaB kinase/NF-kappaB signaling, regulation of circadian rhythm, regulation of hair cycle, circadian regulation of gene expression, circadian regulation of gene expression, posttranscriptional regulation of gene expression, entrainment of circadian clock, circadian rhythm, regulation of sodium ion transport, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3134 6351 5564 4368 5325 6403 5260 4071 5085 ENSG00000179097 chr3 87990696 87993835 + HTR1F protein_coding 3355 GO:0045202, GO:0030425, GO:0005887, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0051378, GO:0051378, GO:0030594, GO:0004993, GO:0004993, GO:0004993, serotonin binding, serotonin binding, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, GO:0007268, GO:0007198, GO:0007193, GO:0007187, GO:0007186, chemical synaptic transmission, adenylate cyclase-inhibiting serotonin receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179101 chrX 123514473 123514872 + AL590139.1 processed_pseudogene 10 4 9 2 3 2 1 8 6 ENSG00000179104 chr12 82686880 83134870 + TMTC2 protein_coding The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 160335 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, GO:0004169, GO:0000030, protein binding, dolichyl-phosphate-mannose-protein mannosyltransferase activity, mannosyltransferase activity, GO:0055074, GO:0035269, calcium ion homeostasis, protein O-linked mannosylation, 16 8 7 17 13 25 19 4 6 ENSG00000179111 chr17 8120590 8124092 - HES7 protein_coding This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 84667 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0046983, GO:0008134, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, transcription factor binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050767, GO:0048511, GO:0036342, GO:0009952, GO:0007498, GO:0007219, GO:0006357, GO:0001756, GO:0001501, GO:0000122, regulation of neurogenesis, rhythmic process, post-anal tail morphogenesis, anterior/posterior pattern specification, mesoderm development, Notch signaling pathway, regulation of transcription by RNA polymerase II, somitogenesis, skeletal system development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000179115 chr19 12922479 12934037 - FARSA protein_coding Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]. 2193 GO:0016020, GO:0009328, GO:0009328, GO:0005829, GO:0005829, GO:0005737, membrane, phenylalanine-tRNA ligase complex, phenylalanine-tRNA ligase complex, cytosol, cytosol, cytoplasm, GO:0005524, GO:0005515, GO:0004826, GO:0004826, GO:0003723, GO:0000049, ATP binding, protein binding, phenylalanine-tRNA ligase activity, phenylalanine-tRNA ligase activity, RNA binding, tRNA binding, GO:0051290, GO:0006432, GO:0006432, GO:0006418, protein heterotetramerization, phenylalanyl-tRNA aminoacylation, phenylalanyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 22 9 32 35 21 61 63 16 26 ENSG00000179119 chr11 18606401 18634791 - SPTY2D1 protein_coding 144108 GO:0005730, GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleolus, nucleoplasm, GO:0042393, GO:0042393, GO:0003677, GO:0003677, GO:0001042, histone binding, histone binding, DNA binding, DNA binding, RNA polymerase I core binding, GO:0043486, GO:0043486, GO:0010847, GO:0010847, GO:0006355, GO:0006355, GO:0006334, GO:0006334, histone exchange, histone exchange, regulation of chromatin assembly, regulation of chromatin assembly, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, nucleosome assembly, nucleosome assembly, 2490 2120 2284 2025 1800 1874 1827 1132 1168 ENSG00000179131 chr7 66914581 66914943 + AC073335.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179133 chr10 23201916 23344845 - C10orf67 protein_coding 256815 GO:0005739, mitochondrion, GO:0005515, protein binding, 0 1 2 0 0 0 0 0 0 ENSG00000179134 chr19 39342396 39385710 + SAMD4B protein_coding 55095 GO:0005829, GO:0005634, GO:0000932, cytosol, nucleus, P-body, GO:0030371, GO:0005515, GO:0003729, GO:0003723, translation repressor activity, protein binding, mRNA binding, RNA binding, GO:0043488, GO:0017148, GO:0000289, regulation of mRNA stability, negative regulation of translation, nuclear-transcribed mRNA poly(A) tail shortening, 3368 3620 4973 1288 1757 1879 1681 1240 1390 ENSG00000179136 chr17 12549782 12642854 + LINC00670 lincRNA 284034 0 0 0 0 0 0 0 0 0 ENSG00000179141 chr13 29476515 29490105 - MTUS2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000179142 chr8 142910559 142917843 - CYP11B2 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]. 1585 GO:0005743, GO:0005743, GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0047783, GO:0020037, GO:0020037, GO:0008395, GO:0005506, GO:0004507, GO:0004507, GO:0004507, corticosterone 18-monooxygenase activity, heme binding, heme binding, steroid hydroxylase activity, iron ion binding, steroid 11-beta-monooxygenase activity, steroid 11-beta-monooxygenase activity, steroid 11-beta-monooxygenase activity, GO:0071375, GO:0055114, GO:0055078, GO:0055075, GO:0035865, GO:0034651, GO:0034651, GO:0034650, GO:0032870, GO:0032342, GO:0032342, GO:0032342, GO:0016125, GO:0008203, GO:0006705, GO:0006704, GO:0006700, GO:0006700, GO:0003091, GO:0002017, cellular response to peptide hormone stimulus, oxidation-reduction process, sodium ion homeostasis, potassium ion homeostasis, cellular response to potassium ion, cortisol biosynthetic process, cortisol biosynthetic process, cortisol metabolic process, cellular response to hormone stimulus, aldosterone biosynthetic process, aldosterone biosynthetic process, aldosterone biosynthetic process, sterol metabolic process, cholesterol metabolic process, mineralocorticoid biosynthetic process, glucocorticoid biosynthetic process, C21-steroid hormone biosynthetic process, C21-steroid hormone biosynthetic process, renal water homeostasis, regulation of blood volume by renal aldosterone, 0 0 0 0 0 0 0 0 0 ENSG00000179144 chr7 150514830 150521073 + GIMAP7 protein_coding This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]. 168537 GO:0043231, GO:0005829, GO:0005829, GO:0005811, GO:0005794, GO:0005783, intracellular membrane-bounded organelle, cytosol, cytosol, lipid droplet, Golgi apparatus, endoplasmic reticulum, GO:0042803, GO:0042802, GO:0005525, GO:0005515, GO:0003924, protein homodimerization activity, identical protein binding, GTP binding, protein binding, GTPase activity, GO:0046039, GTP metabolic process, 217 128 306 112 35 206 62 35 71 ENSG00000179148 chr17 8095900 8119047 - ALOXE3 protein_coding This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 59344 GO:0005829, cytosol, GO:0106256, GO:0106255, GO:0051120, GO:0051120, GO:0051120, GO:0050486, GO:0016702, GO:0016702, GO:0005515, GO:0005506, hydroperoxy icosatetraenoate dehydratase activity, hydroperoxy icosatetraenoate isomerase activity, hepoxilin A3 synthase activity, hepoxilin A3 synthase activity, hepoxilin A3 synthase activity, intramolecular transferase activity, transferring hydroxy groups, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, protein binding, iron ion binding, GO:0061436, GO:0055114, GO:0051122, GO:0051122, GO:0046513, GO:0045444, GO:0043651, GO:0043651, GO:0035357, GO:0019372, GO:0019372, GO:0019372, GO:0019369, GO:0019369, GO:0019233, GO:0006665, establishment of skin barrier, oxidation-reduction process, hepoxilin biosynthetic process, hepoxilin biosynthetic process, ceramide biosynthetic process, fat cell differentiation, linoleic acid metabolic process, linoleic acid metabolic process, peroxisome proliferator activated receptor signaling pathway, lipoxygenase pathway, lipoxygenase pathway, lipoxygenase pathway, arachidonic acid metabolic process, arachidonic acid metabolic process, sensory perception of pain, sphingolipid metabolic process, 0 0 1 12 5 8 5 1 6 ENSG00000179151 chr15 74630558 74696292 - EDC3 protein_coding This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5' to 3' mRNA decay pathway. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability. [provided by RefSeq, May 2017]. 80153 GO:0036464, GO:0016020, GO:0005829, GO:0000932, cytoplasmic ribonucleoprotein granule, membrane, cytosol, P-body, GO:1990174, GO:0042802, GO:0005515, GO:0003729, phosphodiesterase decapping endonuclease activity, identical protein binding, protein binding, mRNA binding, GO:0090502, GO:0043928, GO:0033962, GO:0031087, RNA phosphodiester bond hydrolysis, endonucleolytic, exonucleolytic catabolism of deadenylated mRNA, P-body assembly, deadenylation-independent decapping of nuclear-transcribed mRNA, 61 65 66 67 56 101 114 52 66 ENSG00000179152 chr3 44338119 44409451 + TCAIM protein_coding 285343 GO:0005739, GO:0005739, mitochondrion, mitochondrion, 109 120 122 99 154 145 126 129 141 ENSG00000179157 chr6 43363479 43364219 + RPS2P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179163 chr1 23845077 23868294 - FUCA1 protein_coding The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]. 2517 GO:0070062, GO:0043202, GO:0035578, GO:0005764, GO:0005737, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, lysosome, cytoplasm, extracellular region, GO:0005515, GO:0004560, GO:0004560, GO:0004560, protein binding, alpha-L-fucosidase activity, alpha-L-fucosidase activity, alpha-L-fucosidase activity, GO:0043312, GO:0019377, GO:0016139, GO:0016139, GO:0006027, GO:0006004, GO:0006004, neutrophil degranulation, glycolipid catabolic process, glycoside catabolic process, glycoside catabolic process, glycosaminoglycan catabolic process, fucose metabolic process, fucose metabolic process, 68 64 70 11 21 45 38 30 17 ENSG00000179165 chr6 36390551 36442889 - PXT1 protein_coding 222659 GO:0005777, GO:0005777, GO:0005634, peroxisome, peroxisome, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0043065, GO:0008150, positive regulation of apoptotic process, biological_process, 5 11 0 14 4 8 7 4 8 ENSG00000179168 chr19 38384265 38388082 - GGN protein_coding This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]. 199720 GO:0031625, GO:0005515, ubiquitin protein ligase binding, protein binding, GO:0030154, GO:0007283, GO:0007276, GO:0007275, GO:0006302, cell differentiation, spermatogenesis, gamete generation, multicellular organism development, double-strand break repair, 5 5 4 5 12 16 12 15 11 ENSG00000179170 chr3 125747084 125748098 + OR7E97P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179172 chr1 12847408 12848725 - HNRNPCL1 protein_coding 343069 GO:0005634, nucleus, GO:0042802, GO:0005515, GO:0003723, GO:0003723, identical protein binding, protein binding, RNA binding, RNA binding, 1 0 3 0 2 1 0 1 0 ENSG00000179178 chr1 43269994 43274002 + TMEM125 protein_coding 128218 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000179195 chr12 123971845 124015439 + ZNF664 protein_coding 144348 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0000981, GO:0000978, metal ion binding, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0006355, biological_process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 46 53 116 152 72 191 120 47 108 ENSG00000179213 chr19 51246348 51269330 + SIGLECL1 protein_coding 284369 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0033691, GO:0005515, sialic acid binding, protein binding, GO:0007155, cell adhesion, 0 0 0 0 2 2 2 0 0 ENSG00000179218 chr19 12938578 12944489 + CALR protein_coding Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.[provided by RefSeq, May 2020]. 811 GO:0071682, GO:0071556, GO:0070062, GO:0062023, GO:0048471, GO:0044322, GO:0042824, GO:0042824, GO:0033116, GO:0033018, GO:0030670, GO:0016020, GO:0016020, GO:0009986, GO:0009897, GO:0005925, GO:0005844, GO:0005829, GO:0005794, GO:0005790, GO:0005789, GO:0005788, GO:0005788, GO:0005783, GO:0005783, GO:0005737, GO:0005635, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0001669, endocytic vesicle lumen, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, collagen-containing extracellular matrix, perinuclear region of cytoplasm, endoplasmic reticulum quality control compartment, MHC class I peptide loading complex, MHC class I peptide loading complex, endoplasmic reticulum-Golgi intermediate compartment membrane, sarcoplasmic reticulum lumen, phagocytic vesicle membrane, membrane, membrane, cell surface, external side of plasma membrane, focal adhesion, polysome, cytosol, Golgi apparatus, smooth endoplasmic reticulum, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, nuclear envelope, nucleus, nucleus, extracellular space, extracellular space, extracellular region, acrosomal vesicle, GO:0051087, GO:0051082, GO:0050681, GO:0044183, GO:0042562, GO:0042277, GO:0031625, GO:0030246, GO:0008270, GO:0005515, GO:0005509, GO:0005509, GO:0005509, GO:0005509, GO:0005506, GO:0005178, GO:0003729, GO:0003723, GO:0003677, GO:0001849, chaperone binding, unfolded protein binding, androgen receptor binding, protein folding chaperone, hormone binding, peptide binding, ubiquitin protein ligase binding, carbohydrate binding, zinc ion binding, protein binding, calcium ion binding, calcium ion binding, calcium ion binding, calcium ion binding, iron ion binding, integrin binding, mRNA binding, RNA binding, DNA binding, complement component C1q complex binding, GO:2000510, GO:1990668, GO:1901224, GO:1901164, GO:1900026, GO:0090398, GO:0071285, GO:0071157, GO:0055007, GO:0051208, GO:0050821, GO:0050821, GO:0050766, GO:0048387, GO:0045892, GO:0045787, GO:0045665, GO:0042981, GO:0042921, GO:0042493, GO:0040020, GO:0036500, GO:0034975, GO:0034504, GO:0033574, GO:0033144, GO:0032355, GO:0030968, GO:0030866, GO:0022417, GO:0017148, GO:0017148, GO:0010628, GO:0010595, GO:0008284, GO:0007283, GO:0006898, GO:0006874, GO:0006611, GO:0006457, GO:0006457, GO:0006355, GO:0002502, GO:0002479, GO:0002474, GO:0000122, positive regulation of dendritic cell chemotaxis, vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane, positive regulation of NIK/NF-kappaB signaling, negative regulation of trophoblast cell migration, positive regulation of substrate adhesion-dependent cell spreading, cellular senescence, cellular response to lithium ion, negative regulation of cell cycle arrest, cardiac muscle cell differentiation, sequestering of calcium ion, protein stabilization, protein stabilization, positive regulation of phagocytosis, negative regulation of retinoic acid receptor signaling pathway, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, negative regulation of neuron differentiation, regulation of apoptotic process, glucocorticoid receptor signaling pathway, response to drug, regulation of meiotic nuclear division, ATF6-mediated unfolded protein response, protein folding in endoplasmic reticulum, protein localization to nucleus, response to testosterone, negative regulation of intracellular steroid hormone receptor signaling pathway, response to estradiol, endoplasmic reticulum unfolded protein response, cortical actin cytoskeleton organization, protein maturation by protein folding, negative regulation of translation, negative regulation of translation, positive regulation of gene expression, positive regulation of endothelial cell migration, positive regulation of cell population proliferation, spermatogenesis, receptor-mediated endocytosis, cellular calcium ion homeostasis, protein export from nucleus, protein folding, protein folding, regulation of transcription, DNA-templated, peptide antigen assembly with MHC class I protein complex, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, negative regulation of transcription by RNA polymerase II, 415 496 833 876 1041 1255 647 609 731 ENSG00000179219 chr16 85282958 85285963 + LINC00311 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000179222 chrX 51803007 51902357 + MAGED1 protein_coding This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9500 GO:0032991, GO:0005886, GO:0005737, GO:0005634, GO:0000785, protein-containing complex, plasma membrane, cytoplasm, nucleus, chromatin, GO:0042802, GO:0005515, GO:0003713, identical protein binding, protein binding, transcription coactivator activity, GO:2001235, GO:1900181, GO:0090190, GO:0050680, GO:0045893, GO:0045892, GO:0043406, GO:0042981, GO:0042752, GO:0032922, GO:0006357, GO:0006355, positive regulation of apoptotic signaling pathway, negative regulation of protein localization to nucleus, positive regulation of branching involved in ureteric bud morphogenesis, negative regulation of epithelial cell proliferation, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of MAP kinase activity, regulation of apoptotic process, regulation of circadian rhythm, circadian regulation of gene expression, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 17 12 23 42 20 39 60 21 35 ENSG00000179240 chr11 76381313 76414619 + GVQW3 protein_coding 100506127 8 8 6 8 5 22 11 3 3 ENSG00000179241 chr11 35943981 36232136 + LDLRAD3 protein_coding 143458 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0001540, amyloid-beta binding, GO:0070613, GO:0006898, regulation of protein processing, receptor-mediated endocytosis, 0 3 1 3 0 0 0 1 2 ENSG00000179242 chr20 61252426 61940617 + CDH4 protein_coding This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 1002 GO:0016342, GO:0005887, GO:0005886, GO:0005886, catenin complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0045296, GO:0005509, cadherin binding, calcium ion binding, GO:0098742, GO:0045773, GO:0034332, GO:0007411, GO:0007157, GO:0007156, GO:0007155, cell-cell adhesion via plasma-membrane adhesion molecules, positive regulation of axon extension, adherens junction organization, axon guidance, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 9 3 0 2 3 2 6 1 2 ENSG00000179253 chr20 61717506 61719748 - AL162457.1 antisense 100128310 0 5 0 3 1 0 0 0 1 ENSG00000179256 chr12 14804650 14814182 - SMCO3 protein_coding 440087 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 1 0 ENSG00000179262 chr19 12945855 12953642 + RAD23A protein_coding The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]. 5886 GO:0043231, GO:0034451, GO:0032991, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000502, intracellular membrane-bounded organelle, centriolar satellite, protein-containing complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, proteasome complex, GO:1990381, GO:0070628, GO:0043130, GO:0031593, GO:0031593, GO:0019900, GO:0005515, GO:0003697, GO:0003684, ubiquitin-specific protease binding, proteasome binding, ubiquitin binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, kinase binding, protein binding, single-stranded DNA binding, damaged DNA binding, GO:0045787, GO:0045070, GO:0043161, GO:0032436, GO:0032434, GO:0031648, GO:0016579, GO:0016032, GO:0006289, positive regulation of cell cycle, positive regulation of viral genome replication, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of proteasomal ubiquitin-dependent protein catabolic process, protein destabilization, protein deubiquitination, viral process, nucleotide-excision repair, 119 116 147 129 102 180 143 84 160 ENSG00000179270 chr2 29060976 29074261 - PCARE protein_coding The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]. 388939 GO:0005929, GO:0001917, GO:0001750, cilium, photoreceptor inner segment, photoreceptor outer segment, GO:1903546, GO:0050896, GO:0035845, GO:0007601, protein localization to photoreceptor outer segment, response to stimulus, photoreceptor cell outer segment organization, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000179271 chr19 12953119 12957236 - GADD45GIP1 protein_coding This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]. 90480 GO:0005840, GO:0005759, GO:0005739, GO:0005634, ribosome, mitochondrial matrix, mitochondrion, nucleus, GO:0005515, protein binding, GO:0071850, GO:0071850, GO:0070126, GO:0070125, GO:0016032, mitotic cell cycle arrest, mitotic cell cycle arrest, mitochondrial translational termination, mitochondrial translational elongation, viral process, 44 25 73 68 45 72 35 22 98 ENSG00000179277 chr17 15786618 15787575 + MEIS3P1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000179284 chr19 12965159 12974762 + DAND5 protein_coding This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008]. 199699 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0016015, GO:0016015, morphogen activity, morphogen activity, GO:1900176, GO:1900108, GO:0061371, GO:0061371, GO:0038101, GO:0035582, GO:0030514, GO:0030512, GO:0023019, GO:0003283, GO:0003281, GO:0003140, negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry, negative regulation of nodal signaling pathway, determination of heart left/right asymmetry, determination of heart left/right asymmetry, sequestering of nodal from receptor via nodal binding, sequestering of BMP in extracellular matrix, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, signal transduction involved in regulation of gene expression, atrial septum development, ventricular septum development, determination of left/right asymmetry in lateral mesoderm, 0 0 0 4 0 0 0 0 0 ENSG00000179292 chr11 66291870 66296664 + TMEM151A protein_coding 256472 GO:0016021, integral component of membrane, 0 0 0 1 0 0 0 0 0 ENSG00000179295 chr12 112418351 112509913 + PTPN11 protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]. 5781 GO:0032991, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, protein-containing complex, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:1990782, GO:0051428, GO:0050839, GO:0045296, GO:0043560, GO:0043274, GO:0031748, GO:0030971, GO:0030159, GO:0019904, GO:0019901, GO:0005515, GO:0005158, GO:0004726, GO:0004726, GO:0004726, GO:0004725, GO:0004725, GO:0004725, GO:0004725, GO:0004721, GO:0001784, GO:0001784, protein tyrosine kinase binding, peptide hormone receptor binding, cell adhesion molecule binding, cadherin binding, insulin receptor substrate binding, phospholipase binding, D1 dopamine receptor binding, receptor tyrosine kinase binding, signaling receptor complex adaptor activity, protein domain specific binding, protein kinase binding, protein binding, insulin receptor binding, non-membrane spanning protein tyrosine phosphatase activity, non-membrane spanning protein tyrosine phosphatase activity, non-membrane spanning protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, phosphotyrosine residue binding, phosphotyrosine residue binding, GO:0071364, GO:0071345, GO:0071260, GO:0070374, GO:0070102, GO:0061582, GO:0060338, GO:0060325, GO:0060125, GO:0060020, GO:0051897, GO:0051463, GO:0050900, GO:0050731, GO:0048873, GO:0048839, GO:0048806, GO:0048609, GO:0048013, GO:0048011, GO:0048008, GO:0046887, GO:0046825, GO:0046676, GO:0046628, GO:0046326, GO:0045931, GO:0045778, GO:0043254, GO:0042593, GO:0042445, GO:0038127, GO:0036302, GO:0035855, GO:0035335, GO:0035335, GO:0035265, GO:0035264, GO:0033629, GO:0033628, GO:0033277, GO:0032760, GO:0032755, GO:0032728, GO:0032528, GO:0032331, GO:0031295, GO:0030220, GO:0030168, GO:0021697, GO:0019221, GO:0009755, GO:0008543, GO:0008543, GO:0007507, GO:0007420, GO:0007411, GO:0007229, GO:0007173, GO:0006641, GO:0000187, GO:0000077, cellular response to epidermal growth factor stimulus, cellular response to cytokine stimulus, cellular response to mechanical stimulus, positive regulation of ERK1 and ERK2 cascade, interleukin-6-mediated signaling pathway, intestinal epithelial cell migration, regulation of type I interferon-mediated signaling pathway, face morphogenesis, negative regulation of growth hormone secretion, Bergmann glial cell differentiation, positive regulation of protein kinase B signaling, negative regulation of cortisol secretion, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, homeostasis of number of cells within a tissue, inner ear development, genitalia development, multicellular organismal reproductive process, ephrin receptor signaling pathway, neurotrophin TRK receptor signaling pathway, platelet-derived growth factor receptor signaling pathway, positive regulation of hormone secretion, regulation of protein export from nucleus, negative regulation of insulin secretion, positive regulation of insulin receptor signaling pathway, positive regulation of glucose import, positive regulation of mitotic cell cycle, positive regulation of ossification, regulation of protein-containing complex assembly, glucose homeostasis, hormone metabolic process, ERBB signaling pathway, atrioventricular canal development, megakaryocyte development, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, organ growth, multicellular organism growth, negative regulation of cell adhesion mediated by integrin, regulation of cell adhesion mediated by integrin, abortive mitotic cell cycle, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interferon-beta production, microvillus organization, negative regulation of chondrocyte differentiation, T cell costimulation, platelet formation, platelet activation, cerebellar cortex formation, cytokine-mediated signaling pathway, hormone-mediated signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, heart development, brain development, axon guidance, integrin-mediated signaling pathway, epidermal growth factor receptor signaling pathway, triglyceride metabolic process, activation of MAPK activity, DNA damage checkpoint, 567 472 774 281 182 294 353 240 343 ENSG00000179299 chr4 40749897 40809985 + NSUN7 protein_coding 79730 GO:0008168, GO:0003723, methyltransferase activity, RNA binding, GO:0032259, methylation, 401 358 378 389 525 405 465 336 352 ENSG00000179300 chrX 78656069 78659328 - RTL3 protein_coding This gene is a member of a family of gag-related retrotransposon genes. These genes appear to have lost the ability to retrotranspose; however, their open reading frames have remained intact, which may indicate that these genes have acquired new functions in the cell. [provided by RefSeq, Nov 2009]. 203430 GO:0005634, nucleus, GO:0008270, GO:0003676, zinc ion binding, nucleic acid binding, 0 0 0 0 0 0 0 0 0 ENSG00000179304 chrX 52891306 52908560 + FAM156B protein_coding 727866 GO:0016021, GO:0005635, integral component of membrane, nuclear envelope, GO:0035064, GO:0005515, methylated histone binding, protein binding, 0 0 0 1 1 1 1 0 1 ENSG00000179314 chr17 6057807 6124427 + WSCD1 protein_coding 23302 GO:0016021, integral component of membrane, GO:0008146, sulfotransferase activity, 0 0 0 0 0 0 0 0 0 ENSG00000179331 chr11 107928503 107963482 + RAB39A protein_coding 54734 GO:0045335, GO:0030670, GO:0005886, GO:0005829, GO:0005794, GO:0005764, GO:0000139, GO:0000139, phagocytic vesicle, phagocytic vesicle membrane, plasma membrane, cytosol, Golgi apparatus, lysosome, Golgi membrane, Golgi membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0090385, GO:0090383, GO:0032482, GO:0015031, GO:0006914, phagosome-lysosome fusion, phagosome acidification, Rab protein signal transduction, protein transport, autophagy, 4 4 8 2 0 4 1 0 5 ENSG00000179335 chr15 74598500 74645414 + CLK3 protein_coding This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008]. 1198 GO:0045111, GO:0016607, GO:0016020, GO:0005654, GO:0005634, GO:0001669, intermediate filament cytoskeleton, nuclear speck, membrane, nucleoplasm, nucleus, acrosomal vesicle, GO:0042802, GO:0005524, GO:0005515, GO:0004713, GO:0004712, GO:0004674, GO:0003723, identical protein binding, ATP binding, protein binding, protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, protein serine/threonine kinase activity, RNA binding, GO:0046777, GO:0043484, GO:0018108, GO:0006468, protein autophosphorylation, regulation of RNA splicing, peptidyl-tyrosine phosphorylation, protein phosphorylation, 2433 2578 3262 2709 3095 3490 2931 2397 2963 ENSG00000179342 chr7 66505155 66506223 - AC008267.1 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000179344 chr6 32659467 32668383 - HLA-DQB1 protein_coding HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 3119 GO:0071556, GO:0042613, GO:0032588, GO:0030669, GO:0030666, GO:0030658, GO:0016020, GO:0016020, GO:0012507, GO:0010008, GO:0005886, GO:0005765, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, MHC class II protein complex, trans-Golgi network membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, membrane, membrane, ER to Golgi transport vesicle membrane, endosome membrane, plasma membrane, lysosomal membrane, Golgi membrane, GO:0042605, GO:0032395, GO:0005515, peptide antigen binding, MHC class II receptor activity, protein binding, GO:0060333, GO:0050852, GO:0019886, GO:0006955, GO:0002455, GO:0002381, interferon-gamma-mediated signaling pathway, T cell receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class II, immune response, humoral immune response mediated by circulating immunoglobulin, immunoglobulin production involved in immunoglobulin-mediated immune response, 48 0 27 85 0 82 69 0 39 ENSG00000179348 chr3 128479427 128493185 - GATA2 protein_coding This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]. 2624 GO:0032991, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, protein-containing complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0070742, GO:0008270, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, C2H2 zinc finger domain binding, zinc ion binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000977, GO:2000352, GO:2000178, GO:1903589, GO:1902895, GO:1902895, GO:1902895, GO:1902036, GO:0097154, GO:0090102, GO:0090050, GO:0070345, GO:0061042, GO:0060872, GO:0060216, GO:0060100, GO:0050766, GO:0048873, GO:0048469, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045766, GO:0045766, GO:0045766, GO:0045746, GO:0045666, GO:0045654, GO:0045650, GO:0045648, GO:0045599, GO:0045165, GO:0043536, GO:0043306, GO:0042472, GO:0035854, GO:0035065, GO:0035019, GO:0033993, GO:0021983, GO:0021954, GO:0021902, GO:0021533, GO:0021514, GO:0010725, GO:0010629, GO:0010628, GO:0007596, GO:0007204, GO:0006909, GO:0001892, GO:0001764, GO:0001709, GO:0001655, GO:0000122, regulation of forebrain neuron differentiation, negative regulation of endothelial cell apoptotic process, negative regulation of neural precursor cell proliferation, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of pri-miRNA transcription by RNA polymerase II, regulation of hematopoietic stem cell differentiation, GABAergic neuron differentiation, cochlea development, positive regulation of cell migration involved in sprouting angiogenesis, negative regulation of fat cell proliferation, vascular wound healing, semicircular canal development, definitive hemopoiesis, positive regulation of phagocytosis, engulfment, positive regulation of phagocytosis, homeostasis of number of cells within a tissue, cell maturation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of angiogenesis, negative regulation of Notch signaling pathway, positive regulation of neuron differentiation, positive regulation of megakaryocyte differentiation, negative regulation of macrophage differentiation, positive regulation of erythrocyte differentiation, negative regulation of fat cell differentiation, cell fate commitment, positive regulation of blood vessel endothelial cell migration, positive regulation of mast cell degranulation, inner ear morphogenesis, eosinophil fate commitment, regulation of histone acetylation, somatic stem cell population maintenance, response to lipid, pituitary gland development, central nervous system neuron development, commitment of neuronal cell to specific neuron type in forebrain, cell differentiation in hindbrain, ventral spinal cord interneuron differentiation, regulation of primitive erythrocyte differentiation, negative regulation of gene expression, positive regulation of gene expression, blood coagulation, positive regulation of cytosolic calcium ion concentration, phagocytosis, embryonic placenta development, neuron migration, cell fate determination, urogenital system development, negative regulation of transcription by RNA polymerase II, 11 12 15 42 21 24 29 21 32 ENSG00000179361 chr15 74541177 74598131 + ARID3B protein_coding This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]. 10620 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 907 980 1210 528 818 875 665 727 752 ENSG00000179362 chr15 45511136 45586290 + HMGN2P46 transcribed_processed_pseudogene 1 2 3 7 9 18 4 7 11 ENSG00000179363 chrX 103710909 103714028 + TMEM31 protein_coding 203562 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000179364 chr14 105300563 105398147 + PACS2 protein_coding 23241 GO:0005783, GO:0005739, endoplasmic reticulum, mitochondrion, GO:0044325, GO:0005515, ion channel binding, protein binding, GO:1990456, GO:0072659, GO:0072659, GO:0034497, GO:0032469, GO:0016032, GO:0006915, GO:0000045, mitochondrion-endoplasmic reticulum membrane tethering, protein localization to plasma membrane, protein localization to plasma membrane, protein localization to phagophore assembly site, endoplasmic reticulum calcium ion homeostasis, viral process, apoptotic process, autophagosome assembly, 49 46 85 101 46 78 79 43 77 ENSG00000179381 chr21 13544210 13545185 - OR4K11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179387 chr4 140524158 140553770 + ELMOD2 protein_coding This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]. 255520 GO:0016020, membrane, GO:0005096, GO:0005096, GTPase activator activity, GTPase activator activity, GO:0051607, GO:0050688, GO:0043547, defense response to virus, regulation of defense response to virus, positive regulation of GTPase activity, 238 218 204 168 189 230 198 172 157 ENSG00000179388 chr8 22687659 22693302 - EGR3 protein_coding This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]. 1960 GO:0045202, GO:0000785, GO:0000785, synapse, chromatin, chromatin, GO:1990837, GO:0046872, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045586, GO:0044344, GO:0043066, GO:0035924, GO:0035767, GO:0033089, GO:0007623, GO:0007517, GO:0007422, GO:0007274, GO:0006357, GO:0002042, GO:0001938, positive regulation of transcription by RNA polymerase II, regulation of gamma-delta T cell differentiation, cellular response to fibroblast growth factor stimulus, negative regulation of apoptotic process, cellular response to vascular endothelial growth factor stimulus, endothelial cell chemotaxis, positive regulation of T cell differentiation in thymus, circadian rhythm, muscle organ development, peripheral nervous system development, neuromuscular synaptic transmission, regulation of transcription by RNA polymerase II, cell migration involved in sprouting angiogenesis, positive regulation of endothelial cell proliferation, 3755 4487 5518 1930 3709 3896 2667 2692 3819 ENSG00000179397 chr1 244454377 244641177 + CATSPERE protein_coding 257044 GO:0097228, GO:0036128, sperm principal piece, CatSper complex, 1 1 1 4 0 0 0 0 0 ENSG00000179399 chr13 91398607 92873682 + GPC5 protein_coding Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]. 2262 GO:0062023, GO:0046658, GO:0043202, GO:0016021, GO:0009986, GO:0005886, GO:0005796, GO:0005615, GO:0005576, GO:0005576, collagen-containing extracellular matrix, anchored component of plasma membrane, lysosomal lumen, integral component of membrane, cell surface, plasma membrane, Golgi lumen, extracellular space, extracellular region, extracellular region, GO:0005515, protein binding, GO:1905475, GO:0090263, GO:0016477, GO:0006027, GO:0006024, GO:0001523, regulation of protein localization to membrane, positive regulation of canonical Wnt signaling pathway, cell migration, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, retinoid metabolic process, 0 0 0 0 0 2 0 0 0 ENSG00000179403 chr1 1434861 1442882 + VWA1 protein_coding VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]. 64856 GO:0070062, GO:0062023, GO:0005788, GO:0005615, GO:0005614, GO:0005604, extracellular exosome, collagen-containing extracellular matrix, endoplasmic reticulum lumen, extracellular space, interstitial matrix, basement membrane, GO:0042802, GO:0005201, identical protein binding, extracellular matrix structural constituent, GO:0048266, GO:0044267, GO:0043687, GO:0030198, behavioral response to pain, cellular protein metabolic process, post-translational protein modification, extracellular matrix organization, 0 0 1 0 0 0 0 0 0 ENSG00000179406 chr7 66376044 66493566 - LINC00174 processed_transcript 285908 218 187 196 386 363 407 375 254 279 ENSG00000179407 chr3 128462439 128467248 - DNAJB8 protein_coding The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012]. 165721 GO:0005829, GO:0005634, GO:0005634, cytosol, nucleus, nucleus, GO:0051087, GO:0051082, GO:0044183, chaperone binding, unfolded protein binding, protein folding chaperone, GO:0090084, GO:0061077, negative regulation of inclusion body assembly, chaperone-mediated protein folding, 0 0 0 0 0 0 0 0 0 ENSG00000179409 chr17 744414 753999 - GEMIN4 protein_coding The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 50628 GO:0097504, GO:0070062, GO:0034719, GO:0032797, GO:0032797, GO:0030532, GO:0016604, GO:0016020, GO:0015030, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, Gemini of coiled bodies, extracellular exosome, SMN-Sm protein complex, SMN complex, SMN complex, small nuclear ribonucleoprotein complex, nuclear body, membrane, Cajal body, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:0043021, GO:0005515, ribonucleoprotein complex binding, protein binding, GO:0051170, GO:0006364, GO:0000387, GO:0000387, GO:0000387, import into nucleus, rRNA processing, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, 28 31 46 33 20 61 36 8 17 ENSG00000179412 chr1 13164586 13165467 - HNRNPCL4 protein_coding 101060301 GO:0005634, nucleus, GO:0003723, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000179420 chr7 143062330 143063585 - OR6W1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179428 chr7 22725395 22727620 - AC073072.1 antisense 541472 0 0 0 0 0 0 0 0 0 ENSG00000179431 chr11 35618419 35620868 + FJX1 protein_coding The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008]. 24147 GO:0005615, extracellular space, GO:0010842, GO:0007267, retina layer formation, cell-cell signaling, 0 0 0 0 0 0 0 0 0 ENSG00000179443 chr9 35991336 35992285 - OR13C6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179447 chr20 19242302 19284596 - AL049647.1 antisense 100130264 0 0 2 0 1 0 0 1 0 ENSG00000179452 chr1 181236388 181238604 + LINC01699 lincRNA 100287948 0 0 0 0 0 0 0 0 0 ENSG00000179454 chr14 44924319 45042322 - KLHL28 protein_coding 54813 436 372 513 280 377 382 315 250 254 ENSG00000179455 chr15 23565674 23630075 + MKRN3 protein_coding The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]. 7681 GO:1990904, ribonucleoprotein complex, GO:0061630, GO:0046872, GO:0042802, GO:0005515, ubiquitin protein ligase activity, metal ion binding, identical protein binding, protein binding, GO:0016567, GO:0016567, protein ubiquitination, protein ubiquitination, 2 0 0 0 3 0 1 1 0 ENSG00000179456 chr1 244048939 244057476 + ZBTB18 protein_coding This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 10472 GO:0016607, GO:0005634, GO:0005634, GO:0005634, GO:0000792, nuclear speck, nucleus, nucleus, nucleus, heterochromatin, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0003677, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045892, GO:0007519, GO:0006357, GO:0000122, GO:0000122, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, skeletal muscle tissue development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2896 2333 3612 1003 1536 1343 1114 1076 1092 ENSG00000179460 chr7 20582072 20583206 + EEF1A1P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179468 chr7 143026158 143027195 - OR9A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 135924 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179476 chr14 44897295 44907257 + C14orf28 protein_coding 122525 31 58 42 21 29 29 26 21 31 ENSG00000179477 chr17 8072636 8087716 - ALOX12B protein_coding This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]. 242 GO:0048471, GO:0048471, GO:0005829, perinuclear region of cytoplasm, perinuclear region of cytoplasm, cytosol, GO:1990136, GO:0047677, GO:0016853, GO:0016829, GO:0016702, GO:0016702, GO:0005515, GO:0005506, GO:0004052, GO:0004052, linoleate 9S-lipoxygenase activity, arachidonate 8(R)-lipoxygenase activity, isomerase activity, lyase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, protein binding, iron ion binding, arachidonate 12(S)-lipoxygenase activity, arachidonate 12(S)-lipoxygenase activity, GO:0070257, GO:0061436, GO:0055114, GO:0055114, GO:0051122, GO:0051122, GO:0046513, GO:0043651, GO:0043651, GO:0043410, GO:0034440, GO:0019372, GO:0019372, GO:0019372, GO:0019372, GO:0019369, GO:0019369, GO:0019369, GO:0010628, GO:0006665, GO:0006497, positive regulation of mucus secretion, establishment of skin barrier, oxidation-reduction process, oxidation-reduction process, hepoxilin biosynthetic process, hepoxilin biosynthetic process, ceramide biosynthetic process, linoleic acid metabolic process, linoleic acid metabolic process, positive regulation of MAPK cascade, lipid oxidation, lipoxygenase pathway, lipoxygenase pathway, lipoxygenase pathway, lipoxygenase pathway, arachidonic acid metabolic process, arachidonic acid metabolic process, arachidonic acid metabolic process, positive regulation of gene expression, sphingolipid metabolic process, protein lipidation, 1 0 4 4 1 1 1 0 3 ENSG00000179520 chr12 100357079 100422059 + SLC17A8 protein_coding This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 246213 GO:1990030, GO:0097451, GO:0097441, GO:0097440, GO:0060076, GO:0043679, GO:0043204, GO:0030672, GO:0030285, GO:0016021, GO:0005771, pericellular basket, glial limiting end-foot, basal dendrite, apical dendrite, excitatory synapse, axon terminus, perikaryon, synaptic vesicle membrane, integral component of synaptic vesicle membrane, integral component of membrane, multivesicular body, GO:0022857, GO:0015293, GO:0005326, GO:0005313, transmembrane transporter activity, symporter activity, neurotransmitter transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:0098700, GO:0098700, GO:0098700, GO:0090102, GO:0050803, GO:0035249, GO:0015813, GO:0007605, GO:0007420, GO:0006820, GO:0006814, GO:0006811, GO:0003407, neurotransmitter loading into synaptic vesicle, neurotransmitter loading into synaptic vesicle, neurotransmitter loading into synaptic vesicle, cochlea development, regulation of synapse structure or activity, synaptic transmission, glutamatergic, L-glutamate transmembrane transport, sensory perception of sound, brain development, anion transport, sodium ion transport, ion transport, neural retina development, 0 0 0 0 0 0 0 0 0 ENSG00000179523 chr15 44527257 44536923 - EIF3J-DT lincRNA 645212 80 79 39 74 56 60 55 67 42 ENSG00000179526 chr8 144098633 144108124 - SHARPIN protein_coding 81858 GO:0071797, GO:0071797, GO:0030425, GO:0014069, GO:0005829, GO:0005829, GO:0000151, LUBAC complex, LUBAC complex, dendrite, postsynaptic density, cytosol, cytosol, ubiquitin ligase complex, GO:0046872, GO:0044877, GO:0043130, GO:0042802, GO:0031593, GO:0005515, GO:0004842, metal ion binding, protein-containing complex binding, ubiquitin binding, identical protein binding, polyubiquitin modification-dependent protein binding, protein binding, ubiquitin-protein transferase activity, GO:2000348, GO:0097039, GO:0097039, GO:0050728, GO:0043161, GO:0043123, GO:0043123, GO:0031424, GO:0030262, GO:0010803, GO:0010803, GO:0007420, GO:0007249, GO:0007005, regulation of CD40 signaling pathway, protein linear polyubiquitination, protein linear polyubiquitination, negative regulation of inflammatory response, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, keratinization, apoptotic nuclear changes, regulation of tumor necrosis factor-mediated signaling pathway, regulation of tumor necrosis factor-mediated signaling pathway, brain development, I-kappaB kinase/NF-kappaB signaling, mitochondrion organization, 216 199 227 104 188 135 153 158 114 ENSG00000179528 chr2 74497517 74503316 - LBX2 protein_coding 85474 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:1990837, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:2000052, GO:1904105, GO:0042692, GO:0006357, GO:0006357, positive regulation of non-canonical Wnt signaling pathway, positive regulation of convergent extension involved in gastrulation, muscle cell differentiation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 4 2 3 5 2 5 4 4 3 ENSG00000179532 chr11 6497260 6593758 + DNHD1 protein_coding 144132 GO:0070062, GO:0036156, GO:0030286, extracellular exosome, inner dynein arm, dynein complex, GO:0051959, GO:0045505, GO:0008569, GO:0005524, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, GO:0007018, GO:0003341, microtubule-based movement, cilium movement, 49 72 117 172 138 148 113 104 75 ENSG00000179542 chrX 143622790 143635777 - SLITRK4 protein_coding This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 139065 GO:0098978, GO:0098978, GO:0016021, GO:0005886, glutamatergic synapse, glutamatergic synapse, integral component of membrane, plasma membrane, GO:1905606, GO:0051965, GO:0050807, GO:0050807, GO:0007409, regulation of presynapse assembly, positive regulation of synapse assembly, regulation of synapse organization, regulation of synapse organization, axonogenesis, 4 11 1 0 0 0 1 1 0 ENSG00000179546 chr1 23191895 23194729 - HTR1D protein_coding 3352 GO:0045202, GO:0030425, GO:0005887, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0051378, GO:0030594, GO:0004993, GO:0004993, serotonin binding, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, G protein-coupled serotonin receptor activity, GO:0050795, GO:0042310, GO:0040012, GO:0014827, GO:0007268, GO:0007198, GO:0007193, GO:0007187, GO:0007186, regulation of behavior, vasoconstriction, regulation of locomotion, intestine smooth muscle contraction, chemical synaptic transmission, adenylate cyclase-inhibiting serotonin receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179562 chr7 127580618 127593611 - GCC1 protein_coding The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008]. 79571 GO:0005829, GO:0005794, GO:0000139, GO:0000138, cytosol, Golgi apparatus, Golgi membrane, Golgi trans cisterna, GO:0031267, GO:0005515, small GTPase binding, protein binding, 1803 1917 1907 952 1462 1387 1064 1155 1075 ENSG00000179564 chr3 50279027 50288114 + LSMEM2 protein_coding 132228 GO:0016021, integral component of membrane, GO:0005515, protein binding, 11 7 8 30 25 30 61 12 13 ENSG00000179571 chr1 143595216 143635641 - NBPF17P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179577 chr8 104419512 104421500 - AP003471.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000179580 chr16 1966823 1968975 + RNF151 protein_coding 146310 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0030154, GO:0016567, GO:0007283, cell differentiation, protein ubiquitination, spermatogenesis, 4 0 0 2 2 2 0 0 0 ENSG00000179583 chr16 10866222 10943021 + CIITA protein_coding This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the 'master control factor' for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 4261 GO:0016605, GO:0005829, GO:0005654, GO:0005654, PML body, cytosol, nucleoplasm, nucleoplasm, GO:0106311, GO:0106310, GO:0044877, GO:0033613, GO:0033613, GO:0016746, GO:0008022, GO:0005525, GO:0005524, GO:0005515, GO:0003713, GO:0003677, GO:0000976, protein threonine kinase activity, protein serine kinase activity, protein-containing complex binding, activating transcription factor binding, activating transcription factor binding, transferase activity, transferring acyl groups, protein C-terminus binding, GTP binding, ATP binding, protein binding, transcription coactivator activity, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060333, GO:0046677, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045348, GO:0045348, GO:0045345, GO:0045345, GO:0034341, GO:0032966, GO:0006955, GO:0006954, GO:0006468, GO:0000122, interferon-gamma-mediated signaling pathway, response to antibiotic, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of MHC class II biosynthetic process, positive regulation of MHC class II biosynthetic process, positive regulation of MHC class I biosynthetic process, positive regulation of MHC class I biosynthetic process, response to interferon-gamma, negative regulation of collagen biosynthetic process, immune response, inflammatory response, protein phosphorylation, negative regulation of transcription by RNA polymerase II, 181 237 328 214 292 443 294 261 278 ENSG00000179588 chr16 88453317 88537016 + ZFPM1 protein_coding 161882 GO:0017053, GO:0005667, GO:0005654, GO:0005634, GO:0000785, transcription repressor complex, transcription regulator complex, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0008134, GO:0005515, GO:0001227, GO:0001102, GO:0001085, GO:0001085, GO:0000981, GO:0000978, metal ion binding, transcription factor binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, RNA polymerase II transcription factor binding, RNA polymerase II transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071733, GO:0060413, GO:0060412, GO:0060377, GO:0060319, GO:0060318, GO:0055008, GO:0045944, GO:0045652, GO:0045599, GO:0035855, GO:0035162, GO:0032729, GO:0032713, GO:0032642, GO:0032091, GO:0030851, GO:0030220, GO:0030219, GO:0030219, GO:0030218, GO:0030218, GO:0030154, GO:0010724, GO:0010724, GO:0007596, GO:0007507, GO:0003195, GO:0003192, GO:0003181, GO:0003151, GO:0002295, GO:0000122, GO:0000122, transcriptional activation by promoter-enhancer looping, atrial septum morphogenesis, ventricular septum morphogenesis, negative regulation of mast cell differentiation, primitive erythrocyte differentiation, definitive erythrocyte differentiation, cardiac muscle tissue morphogenesis, positive regulation of transcription by RNA polymerase II, regulation of megakaryocyte differentiation, negative regulation of fat cell differentiation, megakaryocyte development, embryonic hemopoiesis, positive regulation of interferon-gamma production, negative regulation of interleukin-4 production, regulation of chemokine production, negative regulation of protein binding, granulocyte differentiation, platelet formation, megakaryocyte differentiation, megakaryocyte differentiation, erythrocyte differentiation, erythrocyte differentiation, cell differentiation, regulation of definitive erythrocyte differentiation, regulation of definitive erythrocyte differentiation, blood coagulation, heart development, tricuspid valve formation, mitral valve formation, atrioventricular valve morphogenesis, outflow tract morphogenesis, T-helper cell lineage commitment, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 45 29 61 63 17 41 54 15 8 ENSG00000179593 chr17 8039017 8049134 + ALOX15B protein_coding This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 247 GO:0070062, GO:0019898, GO:0016020, GO:0005925, GO:0005912, GO:0005886, GO:0005856, GO:0005829, GO:0005829, GO:0005634, extracellular exosome, extrinsic component of membrane, membrane, focal adhesion, adherens junction, plasma membrane, cytoskeleton, cytosol, cytosol, nucleus, GO:1990136, GO:0050473, GO:0050473, GO:0036403, GO:0016702, GO:0016165, GO:0008289, GO:0005515, GO:0005509, GO:0005506, linoleate 9S-lipoxygenase activity, arachidonate 15-lipoxygenase activity, arachidonate 15-lipoxygenase activity, arachidonate 8(S)-lipoxygenase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, linoleate 13S-lipoxygenase activity, lipid binding, protein binding, calcium ion binding, iron ion binding, GO:2001303, GO:1901696, GO:0071926, GO:0051122, GO:0051122, GO:0045926, GO:0045786, GO:0045618, GO:0043651, GO:0035360, GO:0034440, GO:0032722, GO:0030856, GO:0030850, GO:0030336, GO:0019372, GO:0019372, GO:0019369, GO:0019369, GO:0010744, GO:0008285, GO:0008285, GO:0006915, GO:0006644, GO:0006629, GO:0006629, lipoxin A4 biosynthetic process, cannabinoid biosynthetic process, endocannabinoid signaling pathway, hepoxilin biosynthetic process, hepoxilin biosynthetic process, negative regulation of growth, negative regulation of cell cycle, positive regulation of keratinocyte differentiation, linoleic acid metabolic process, positive regulation of peroxisome proliferator activated receptor signaling pathway, lipid oxidation, positive regulation of chemokine production, regulation of epithelial cell differentiation, prostate gland development, negative regulation of cell migration, lipoxygenase pathway, lipoxygenase pathway, arachidonic acid metabolic process, arachidonic acid metabolic process, positive regulation of macrophage derived foam cell differentiation, negative regulation of cell population proliferation, negative regulation of cell population proliferation, apoptotic process, phospholipid metabolic process, lipid metabolic process, lipid metabolic process, 0 0 1 0 0 0 0 0 0 ENSG00000179598 chr17 17200995 17206315 - PLD6 protein_coding 201164 GO:0016021, GO:0005741, GO:0005741, GO:0005741, integral component of membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, GO:0046872, GO:0042803, GO:0035755, GO:0005515, GO:0004519, metal ion binding, protein homodimerization activity, cardiolipin hydrolase activity, protein binding, endonuclease activity, GO:0090305, GO:0051321, GO:0043046, GO:0034587, GO:0034587, GO:0030719, GO:0016042, GO:0010636, GO:0008053, GO:0007286, GO:0006654, nucleic acid phosphodiester bond hydrolysis, meiotic cell cycle, DNA methylation involved in gamete generation, piRNA metabolic process, piRNA metabolic process, P granule organization, lipid catabolic process, positive regulation of mitochondrial fusion, mitochondrial fusion, spermatid development, phosphatidic acid biosynthetic process, 13 20 21 949 767 625 795 531 489 ENSG00000179600 chr14 63312835 63318879 - GPHB5 protein_coding GPHB5 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]. 122876 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0046982, GO:0031531, GO:0005515, GO:0005179, protein heterodimerization activity, thyrotropin-releasing hormone receptor binding, protein binding, hormone activity, GO:0009755, GO:0007189, GO:0007186, GO:0007186, GO:0002155, hormone-mediated signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, regulation of thyroid hormone mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179603 chr7 126438598 127253294 - GRM8 protein_coding L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 2918 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0008066, GO:0008066, GO:0004930, GO:0001642, glutamate receptor activity, glutamate receptor activity, G protein-coupled receptor activity, group III metabotropic glutamate receptor activity, GO:0051966, GO:0007601, GO:0007216, GO:0007196, GO:0007193, GO:0007186, regulation of synaptic transmission, glutamatergic, visual perception, G protein-coupled glutamate receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 7 ENSG00000179604 chr17 73283624 73312175 - CDC42EP4 protein_coding The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]. 23580 GO:0045335, GO:0015630, GO:0015629, GO:0012505, GO:0005912, GO:0005886, GO:0005886, GO:0005856, GO:0005737, phagocytic vesicle, microtubule cytoskeleton, actin cytoskeleton, endomembrane system, adherens junction, plasma membrane, plasma membrane, cytoskeleton, cytoplasm, GO:0031267, GO:0031267, GO:0005515, GO:0003723, small GTPase binding, small GTPase binding, protein binding, RNA binding, GO:0071346, GO:0031274, GO:0031274, GO:0030838, GO:0008360, GO:0008360, GO:0007266, cellular response to interferon-gamma, positive regulation of pseudopodium assembly, positive regulation of pseudopodium assembly, positive regulation of actin filament polymerization, regulation of cell shape, regulation of cell shape, Rho protein signal transduction, 133 147 155 32 79 114 70 66 55 ENSG00000179611 chr13 43968424 43971199 + DGKZP1 processed_pseudogene 218 175 130 166 184 220 127 159 245 ENSG00000179615 chr12 55572468 55575612 + OR2AP1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 121129 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179626 chr12 55549602 55555832 + OR6C4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 341418 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 1 0 0 0 0 0 ENSG00000179627 chr14 104800596 104804712 + ZBTB42 protein_coding The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]. 100128927 GO:0005886, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, plasma membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007517, GO:0006357, GO:0000122, muscle organ development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 5 7 1 0 6 4 3 4 ENSG00000179630 chr13 43879284 43893932 + LACC1 protein_coding This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]. 144811 GO:0005783, GO:0005777, GO:0005634, endoplasmic reticulum, peroxisome, nucleus, GO:0047975, GO:0017061, GO:0016682, GO:0005515, GO:0005507, GO:0004731, GO:0004000, guanosine phosphorylase activity, S-methyl-5-thioadenosine phosphorylase activity, oxidoreductase activity, acting on diphenols and related substances as donors, oxygen as acceptor, protein binding, copper ion binding, purine-nucleoside phosphorylase activity, adenosine deaminase activity, GO:1900542, GO:0070431, GO:0055114, GO:0050727, GO:0045087, GO:0030641, GO:0006954, GO:0002367, GO:0002221, regulation of purine nucleotide metabolic process, nucleotide-binding oligomerization domain containing 2 signaling pathway, oxidation-reduction process, regulation of inflammatory response, innate immune response, regulation of cellular pH, inflammatory response, cytokine production involved in immune response, pattern recognition receptor signaling pathway, 20 23 104 38 16 86 37 7 58 ENSG00000179632 chr8 144104499 144107611 + MAF1 protein_coding This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008]. 84232 GO:0060077, GO:0048471, GO:0043231, GO:0030425, GO:0030424, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, inhibitory synapse, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, dendrite, axon, plasma membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0050811, GO:0005515, GO:0001006, GO:0001003, GO:0001002, GO:0000994, GABA receptor binding, protein binding, RNA polymerase III type 3 promoter sequence-specific DNA binding, RNA polymerase III type 2 promoter sequence-specific DNA binding, RNA polymerase III type 1 promoter sequence-specific DNA binding, RNA polymerase III core binding, GO:0016480, GO:0016480, GO:0016479, negative regulation of transcription by RNA polymerase III, negative regulation of transcription by RNA polymerase III, negative regulation of transcription by RNA polymerase I, 630 687 692 290 459 335 345 419 344 ENSG00000179636 chr14 21024109 21036276 + TPPP2 protein_coding 122664 GO:0036126, GO:0005874, GO:0005829, sperm flagellum, microtubule, cytosol, GO:0015631, GO:0015631, tubulin binding, tubulin binding, GO:1901317, GO:1901317, GO:0046785, GO:0032273, GO:0030154, GO:0007283, GO:0001578, regulation of flagellated sperm motility, regulation of flagellated sperm motility, microtubule polymerization, positive regulation of protein polymerization, cell differentiation, spermatogenesis, microtubule bundle formation, 0 0 0 0 0 0 0 0 0 ENSG00000179639 chr1 159289714 159308224 + FCER1A protein_coding The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]. 2205 GO:0009986, GO:0005887, GO:0005886, cell surface, integral component of plasma membrane, plasma membrane, GO:0019863, GO:0005515, GO:0004888, IgE binding, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0038095, GO:0007166, regulation of immune response, Fc-epsilon receptor signaling pathway, cell surface receptor signaling pathway, 13 19 9 20 51 38 23 30 4 ENSG00000179673 chr17 46978156 46979248 - RPRML protein_coding 388394 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000179674 chr3 160677159 160678452 + ARL14 protein_coding 80117 GO:0031410, GO:0005886, GO:0005737, cytoplasmic vesicle, plasma membrane, cytoplasm, GO:0005525, GO:0005515, GTP binding, protein binding, GO:0016192, GO:0006886, vesicle-mediated transport, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000179676 chr18 64080009 64149030 - LINC00305 lincRNA 221241 0 0 0 0 0 0 0 0 0 ENSG00000179695 chr12 55444069 55453347 + OR6C2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 341416 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179698 chr8 144107726 144118315 + WDR97 protein_coding The function and protein-coding potential of this gene is unknown. The exon combination is based on AB058778.1 for which two possible open reading frames can be predicted (with start codons at nucleotide 26 or 2614). The position of the first ORF stop codon is consistent with a prediction of nonsense-mediated decay. Given the observation of the first ORF and its length, a predicted translation of the second ORF is inconsistent with the translation leaky scanning theory. Therefore, this gene is represented as a non-protein-coding transcript. [provided by RefSeq, Oct 2008]. 340390 20 31 20 24 28 24 14 28 8 ENSG00000179709 chr19 55947832 55988629 + NLRP8 protein_coding This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 126205 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0005524, GO:0003674, ATP binding, molecular_function, 0 0 0 0 0 0 0 0 0 ENSG00000179715 chr12 47079603 47236662 + PCED1B protein_coding This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 91523 GO:0005515, protein binding, 56 51 86 122 42 120 89 49 100 ENSG00000179743 chr1 15834474 15848147 - FLJ37453 antisense 729614 110 145 151 37 116 52 82 77 67 ENSG00000179750 chr22 38982347 38992804 + APOBEC3B protein_coding This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]. 9582 GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000932, cytoplasm, nucleoplasm, nucleus, nucleus, P-body, GO:0047844, GO:0047844, GO:0008270, GO:0005515, GO:0004126, GO:0003723, GO:0003723, deoxycytidine deaminase activity, deoxycytidine deaminase activity, zinc ion binding, protein binding, cytidine deaminase activity, RNA binding, RNA binding, GO:0080111, GO:0070383, GO:0051607, GO:0051607, GO:0045869, GO:0045087, GO:0016554, GO:0010529, GO:0010529, GO:0009972, DNA demethylation, DNA cytosine deamination, defense response to virus, defense response to virus, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, innate immune response, cytidine to uridine editing, negative regulation of transposition, negative regulation of transposition, cytidine deamination, 161 159 65 168 134 75 203 135 61 ENSG00000179751 chr19 39202831 39204266 - SYCN protein_coding 342898 GO:0030667, GO:0030658, secretory granule membrane, transport vesicle membrane, GO:0006887, exocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000179755 chr16 35021749 35024229 + AC135776.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000179761 chr17 28950513 29057220 + PIPOX protein_coding 51268 GO:0005829, GO:0005782, GO:0005777, GO:0005777, cytosol, peroxisomal matrix, peroxisome, peroxisome, GO:0050031, GO:0050031, GO:0050031, GO:0050031, GO:0008115, GO:0008115, GO:0005515, L-pipecolate oxidase activity, L-pipecolate oxidase activity, L-pipecolate oxidase activity, L-pipecolate oxidase activity, sarcosine oxidase activity, sarcosine oxidase activity, protein binding, GO:0055114, GO:0046653, GO:0033514, GO:0033514, GO:0006625, GO:0006554, oxidation-reduction process, tetrahydrofolate metabolic process, L-lysine catabolic process to acetyl-CoA via L-pipecolate, L-lysine catabolic process to acetyl-CoA via L-pipecolate, protein targeting to peroxisome, lysine catabolic process, 20 30 24 16 5 20 16 11 17 ENSG00000179766 chr9 35406755 35483035 + ATP8B5P transcribed_unprocessed_pseudogene 158381 0 0 0 0 0 0 0 0 0 ENSG00000179772 chr20 31844301 31845619 - FOXS1 protein_coding The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]. 2307 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050885, GO:0045892, GO:0043433, GO:0040018, GO:0030154, GO:0009653, GO:0006357, GO:0001568, GO:0000122, neuromuscular process controlling balance, negative regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, positive regulation of multicellular organism growth, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, blood vessel development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000179774 chr10 68230624 68232103 - ATOH7 protein_coding This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]. 220202 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0043153, GO:0030182, GO:0021554, GO:0006357, GO:0003407, entrainment of circadian clock by photoperiod, neuron differentiation, optic nerve development, regulation of transcription by RNA polymerase II, neural retina development, 0 0 0 0 0 0 0 0 0 ENSG00000179776 chr16 66366622 66404786 + CDH5 protein_coding This gene encodes a classical cadherin of the cadherin superfamily. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classical cadherin by imparting to cells the ability to adhere in a homophilic manner, this protein plays a role in endothelial adherens junction assembly and maintenance. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. [provided by RefSeq, Nov 2015]. 1003 GO:0031965, GO:0030054, GO:0016342, GO:0016021, GO:0016020, GO:0009986, GO:0009897, GO:0005923, GO:0005912, GO:0005912, GO:0005912, GO:0005911, GO:0005886, GO:0005886, GO:0005654, nuclear membrane, cell junction, catenin complex, integral component of membrane, membrane, cell surface, external side of plasma membrane, bicellular tight junction, adherens junction, adherens junction, adherens junction, cell-cell junction, plasma membrane, plasma membrane, nucleoplasm, GO:1990782, GO:0070700, GO:0070051, GO:0045296, GO:0044325, GO:0043184, GO:0019903, GO:0008013, GO:0005515, GO:0005509, GO:0005102, protein tyrosine kinase binding, BMP receptor binding, fibrinogen binding, cadherin binding, ion channel binding, vascular endothelial growth factor receptor 2 binding, protein phosphatase binding, beta-catenin binding, protein binding, calcium ion binding, signaling receptor binding, GO:2000352, GO:2000114, GO:2000114, GO:1903142, GO:1902396, GO:0098742, GO:0098609, GO:0070830, GO:0050728, GO:0045766, GO:0044331, GO:0043534, GO:0043114, GO:0035633, GO:0035307, GO:0034332, GO:0034332, GO:0034332, GO:0031334, GO:0031115, GO:0030513, GO:0030335, GO:0016339, GO:0010628, GO:0008285, GO:0007275, GO:0007179, GO:0007156, GO:0007043, GO:0007043, GO:0006874, GO:0001955, GO:0001944, GO:0001932, GO:0000902, negative regulation of endothelial cell apoptotic process, regulation of establishment of cell polarity, regulation of establishment of cell polarity, positive regulation of establishment of endothelial barrier, protein localization to bicellular tight junction, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, bicellular tight junction assembly, negative regulation of inflammatory response, positive regulation of angiogenesis, cell-cell adhesion mediated by cadherin, blood vessel endothelial cell migration, regulation of vascular permeability, maintenance of blood-brain barrier, positive regulation of protein dephosphorylation, adherens junction organization, adherens junction organization, adherens junction organization, positive regulation of protein-containing complex assembly, negative regulation of microtubule polymerization, positive regulation of BMP signaling pathway, positive regulation of cell migration, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, positive regulation of gene expression, negative regulation of cell population proliferation, multicellular organism development, transforming growth factor beta receptor signaling pathway, homophilic cell adhesion via plasma membrane adhesion molecules, cell-cell junction assembly, cell-cell junction assembly, cellular calcium ion homeostasis, blood vessel maturation, vasculature development, regulation of protein phosphorylation, cell morphogenesis, 0 0 1 0 0 0 0 0 0 ENSG00000179796 chr3 26622806 26717537 + LRRC3B protein_coding The protein encoded by this gene is a tumor suppressor, with lowered expression levels found in gastric, renal, colorectal, lung, and breast cancer tissues. The promoter of this gene is frequently hypermethylated in these cancer tissues, although the hypermethylation does not appear to be the cause of the reduced expression of this gene. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]. 116135 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, GO:0005515, protein binding, 0 0 0 0 0 0 1 0 0 ENSG00000179799 chr3 75356437 75362268 - OR7E22P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000179813 chr13 42781550 42791549 + FAM216B protein_coding 144809 0 0 0 0 0 0 0 0 0 ENSG00000179817 chr11 18172837 18174280 + MRGPRX4 protein_coding 117196 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179818 chr2 69962263 70103220 - PCBP1-AS1 processed_transcript 400960 5465 5910 6149 2738 4975 3742 3564 4859 3683 ENSG00000179820 chr19 53866223 53876437 + MYADM protein_coding 91663 GO:0045121, GO:0030864, GO:0016021, GO:0005911, GO:0005911, GO:0005886, GO:0005886, GO:0005886, GO:0001726, membrane raft, cortical actin cytoskeleton, integral component of membrane, cell-cell junction, cell-cell junction, plasma membrane, plasma membrane, plasma membrane, ruffle, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1900026, GO:0090038, GO:0072659, GO:0061028, GO:0045217, GO:0034115, GO:0034115, GO:0031579, GO:0030837, GO:0030335, GO:0010810, GO:0010629, GO:0001933, positive regulation of substrate adhesion-dependent cell spreading, negative regulation of protein kinase C signaling, protein localization to plasma membrane, establishment of endothelial barrier, cell-cell junction maintenance, negative regulation of heterotypic cell-cell adhesion, negative regulation of heterotypic cell-cell adhesion, membrane raft organization, negative regulation of actin filament polymerization, positive regulation of cell migration, regulation of cell-substrate adhesion, negative regulation of gene expression, negative regulation of protein phosphorylation, 6417 9460 8619 2583 6946 4976 4024 6546 4564 ENSG00000179826 chr11 18120955 18138480 + MRGPRX3 protein_coding This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009]. 117195 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179832 chr8 144148016 144261940 + MROH1 protein_coding 727957 111 147 197 141 133 185 212 82 152 ENSG00000179833 chr2 64631621 64751005 - SERTAD2 protein_coding 9792 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0140110, GO:0005515, GO:0003713, transcription regulator activity, protein binding, transcription coactivator activity, GO:0048096, GO:0030308, chromatin-mediated maintenance of transcription, negative regulation of cell growth, 285 585 445 613 1142 1315 706 869 1082 ENSG00000179840 chr1 9652610 9654586 - PIK3CD-AS1 antisense 644997 30 24 32 11 21 27 13 15 13 ENSG00000179841 chr14 64465499 64474503 + AKAP5 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]. 9495 GO:0098837, GO:0060076, GO:0045121, GO:0043197, GO:0032590, GO:0014069, GO:0009898, GO:0005886, GO:0005829, postsynaptic recycling endosome, excitatory synapse, membrane raft, dendritic spine, dendrite membrane, postsynaptic density, cytoplasmic side of plasma membrane, plasma membrane, cytosol, GO:0097110, GO:0060090, GO:0051018, GO:0050811, GO:0035254, GO:0035254, GO:0034237, GO:0034237, GO:0034237, GO:0031698, GO:0030346, GO:0017124, GO:0008179, GO:0008179, GO:0005516, GO:0005515, scaffold protein binding, molecular adaptor activity, protein kinase A binding, GABA receptor binding, glutamate receptor binding, glutamate receptor binding, protein kinase A regulatory subunit binding, protein kinase A regulatory subunit binding, protein kinase A regulatory subunit binding, beta-2 adrenergic receptor binding, protein phosphatase 2B binding, SH3 domain binding, adenylate cyclase binding, adenylate cyclase binding, calmodulin binding, protein binding, GO:1905751, GO:1903078, GO:1900273, GO:0045762, GO:0010738, GO:0007268, GO:0007194, GO:0007193, GO:0007165, positive regulation of endosome to plasma membrane protein transport, positive regulation of protein localization to plasma membrane, positive regulation of long-term synaptic potentiation, positive regulation of adenylate cyclase activity, regulation of protein kinase A signaling, chemical synaptic transmission, negative regulation of adenylate cyclase activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, signal transduction, 9 13 28 11 9 26 16 16 26 ENSG00000179846 chr19 45149750 45158737 - NKPD1 protein_coding 284353 GO:0016021, integral component of membrane, 2 0 1 4 0 3 0 0 0 ENSG00000179855 chr19 3585553 3593541 + GIPC3 protein_coding The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011]. 126326 GO:0005515, protein binding, 1 0 0 5 0 0 1 2 6 ENSG00000179859 chr17 7913324 7916276 - RNF227 protein_coding 284023 GO:0046872, metal ion binding, 1 3 6 19 17 35 20 6 5 ENSG00000179862 chr1 40861051 40862366 - CITED4 protein_coding The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011]. 163732 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0003713, GO:0003713, transcription coactivator activity, transcription coactivator activity, GO:0045944, GO:0043627, positive regulation of transcription by RNA polymerase II, response to estrogen, 44 27 35 19 26 13 18 40 63 ENSG00000179869 chr7 48171458 48647496 + ABCA13 protein_coding In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]. 154664 GO:0043231, GO:0035577, GO:0030667, GO:0016021, GO:0005886, intracellular membrane-bounded organelle, azurophil granule membrane, secretory granule membrane, integral component of membrane, plasma membrane, GO:0042626, GO:0005524, GO:0005319, ATPase-coupled transmembrane transporter activity, ATP binding, lipid transporter activity, GO:0055085, GO:0043312, GO:0006869, transmembrane transport, neutrophil degranulation, lipid transport, 8 26 45 4 7 43 7 23 36 ENSG00000179873 chr19 55785397 55836800 - NLRP11 protein_coding This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of other members of the NLRP gene family with similar domain structure, is predicted to form part of the multiprotein inflammasome complex. Alternative splicing produces multiple transcript variants encoding distince isoforms. [provided by RefSeq, May 2017]. 204801 GO:0016715, GO:0005524, GO:0003723, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen, ATP binding, RNA binding, GO:0055114, oxidation-reduction process, 0 0 0 0 0 0 0 0 0 ENSG00000179886 chr8 143597835 143603224 + TIGD5 protein_coding The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]. 84948 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0003677, GO:0003674, DNA binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000179889 chr16 14974591 15139339 + PDXDC1 protein_coding 23042 GO:0043231, GO:0005794, GO:0005783, intracellular membrane-bounded organelle, Golgi apparatus, endoplasmic reticulum, GO:0045296, GO:0030170, GO:0016831, GO:0008117, cadherin binding, pyridoxal phosphate binding, carboxy-lyase activity, sphinganine-1-phosphate aldolase activity, GO:0030149, GO:0019752, GO:0001667, sphingolipid catabolic process, carboxylic acid metabolic process, ameboidal-type cell migration, 17 26 21 4 14 24 31 14 9 ENSG00000179899 chr12 55411727 55414787 - PHC1P1 processed_pseudogene 9 8 13 14 0 21 15 18 14 ENSG00000179902 chr1 109105951 109113857 - C1orf194 protein_coding 127003 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0020037, GO:0015232, heme binding, heme transmembrane transporter activity, GO:0097037, heme export, 9 7 4 8 15 9 16 2 1 ENSG00000179909 chr19 57697367 57709194 - ZNF154 protein_coding This gene encodes a protein that belongs to the zinc finger Kruppel family of transcriptional regulators, whose members are thought to function in normal and abnormal cell growth and differentiation. Hypermethylation of this gene is associated with the recurrence of non muscle invasive bladder cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 7710 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 13 11 11 40 9 34 30 16 9 ENSG00000179912 chr12 57253762 57431005 - R3HDM2 protein_coding 22864 GO:0005634, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, 472 516 517 445 532 464 524 420 418 ENSG00000179913 chr19 17794828 17813082 + B3GNT3 protein_coding This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]. 10331 GO:0005887, GO:0005794, GO:0000139, integral component of plasma membrane, Golgi apparatus, Golgi membrane, GO:0047223, GO:0008532, GO:0008532, GO:0008457, GO:0008376, GO:0008375, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0030311, GO:0030311, GO:0018146, GO:0016266, GO:0006486, poly-N-acetyllactosamine biosynthetic process, poly-N-acetyllactosamine biosynthetic process, keratan sulfate biosynthetic process, O-glycan processing, protein glycosylation, 1 1 0 0 0 0 0 0 0 ENSG00000179914 chr1 160876539 160885170 - ITLN1 protein_coding 55600 GO:0070062, GO:0045121, GO:0043235, GO:0031526, GO:0031225, GO:0005576, extracellular exosome, membrane raft, receptor complex, brush border membrane, anchored component of membrane, extracellular region, GO:0070492, GO:0042802, GO:0005509, oligosaccharide binding, identical protein binding, calcium ion binding, GO:0070207, GO:0046326, GO:0019730, GO:0009624, GO:0001934, protein homotrimerization, positive regulation of glucose import, antimicrobial humoral response, response to nematode, positive regulation of protein phosphorylation, 1 0 0 5 3 0 3 5 4 ENSG00000179915 chr2 49918505 51225575 - NRXN1 protein_coding This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]. 9378 GO:0099059, GO:0098978, GO:0043025, GO:0042995, GO:0042734, GO:0032991, GO:0031982, GO:0031965, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005783, GO:0005730, integral component of presynaptic active zone membrane, glutamatergic synapse, neuronal cell body, cell projection, presynaptic membrane, protein-containing complex, vesicle, nuclear membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, nucleolus, GO:0097109, GO:0050839, GO:0038023, GO:0033130, GO:0005515, GO:0005509, GO:0005246, neuroligin family protein binding, cell adhesion molecule binding, signaling receptor activity, acetylcholine receptor binding, protein binding, calcium ion binding, calcium channel regulator activity, GO:2000821, GO:2000463, GO:1905606, GO:0099560, GO:0099151, GO:0097119, GO:0097118, GO:0097116, GO:0097104, GO:0090129, GO:0071625, GO:0060134, GO:0051968, GO:0051965, GO:0050885, GO:0050885, GO:0042297, GO:0035176, GO:0030534, GO:0007612, GO:0007416, GO:0007411, GO:0007269, GO:0007268, GO:0007158, regulation of grooming behavior, positive regulation of excitatory postsynaptic potential, regulation of presynapse assembly, synaptic membrane adhesion, regulation of postsynaptic density assembly, postsynaptic density protein 95 clustering, neuroligin clustering involved in postsynaptic membrane assembly, gephyrin clustering involved in postsynaptic density assembly, postsynaptic membrane assembly, positive regulation of synapse maturation, vocalization behavior, prepulse inhibition, positive regulation of synaptic transmission, glutamatergic, positive regulation of synapse assembly, neuromuscular process controlling balance, neuromuscular process controlling balance, vocal learning, social behavior, adult behavior, learning, synapse assembly, axon guidance, neurotransmitter secretion, chemical synaptic transmission, neuron cell-cell adhesion, 21 41 20 6 19 10 21 28 3 ENSG00000179918 chr16 30443631 30446181 - SEPHS2 protein_coding This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5. [provided by RefSeq, May 2017]. 22928 GO:0005829, GO:0005737, GO:0005575, cytosol, cytoplasm, cellular_component, GO:0046872, GO:0005524, GO:0004756, GO:0004756, GO:0004756, metal ion binding, ATP binding, selenide, water dikinase activity, selenide, water dikinase activity, selenide, water dikinase activity, GO:0016310, GO:0016260, GO:0016260, GO:0016259, GO:0001887, phosphorylation, selenocysteine biosynthetic process, selenocysteine biosynthetic process, selenocysteine metabolic process, selenium compound metabolic process, 389 298 384 591 746 812 457 452 474 ENSG00000179919 chr12 55221025 55221975 + OR10A7 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 121364 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000179921 chr2 218259496 218263859 + GPBAR1 protein_coding This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 151306 GO:0043235, GO:0016021, GO:0005886, GO:0005886, GO:0005737, receptor complex, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, GO:0038182, GO:0038182, GO:0038181, G protein-coupled bile acid receptor activity, G protein-coupled bile acid receptor activity, bile acid receptor activity, GO:2000810, GO:1904056, GO:1903413, GO:0070374, GO:0038184, GO:0007186, regulation of bicellular tight junction assembly, positive regulation of cholangiocyte proliferation, cellular response to bile acid, positive regulation of ERK1 and ERK2 cascade, cell surface bile acid receptor signaling pathway, G protein-coupled receptor signaling pathway, 6 19 7 14 30 15 13 14 19 ENSG00000179922 chr19 55620742 55624601 - ZNF784 protein_coding 147808 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0002244, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, hematopoietic progenitor cell differentiation, 32 62 48 11 42 34 21 29 27 ENSG00000179930 chr1 182054570 182061712 - ZNF648 protein_coding 127665 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000179933 chr14 23094765 23100462 + C14orf119 protein_coding 55017 GO:0005829, GO:0005739, cytosol, mitochondrion, GO:0005515, protein binding, 260 201 301 174 162 133 139 159 117 ENSG00000179934 chr3 39329706 39333511 + CCR8 protein_coding This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008]. 1237 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019957, GO:0016493, GO:0015026, GO:0004950, C-C chemokine binding, C-C chemokine receptor activity, coreceptor activity, chemokine receptor activity, GO:0070098, GO:0060326, GO:0019722, GO:0007204, GO:0007186, GO:0007155, GO:0006955, chemokine-mediated signaling pathway, cell chemotaxis, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cell adhesion, immune response, 3 0 1 1 0 0 6 0 4 ENSG00000179935 chr20 18786065 18794335 - LINC00652 lincRNA 2 1 2 3 2 2 3 2 11 ENSG00000179938 chr15 30083053 30093499 + GOLGA8J protein_coding 653073 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 0 0 0 0 0 0 ENSG00000179941 chr12 76344474 76348442 - BBS10 protein_coding This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]. 79738 GO:0005929, cilium, GO:0005524, GO:0005515, GO:0001103, ATP binding, protein binding, RNA polymerase II repressing transcription factor binding, GO:1905515, GO:0051131, GO:0051131, GO:0050896, GO:0045494, GO:0043254, GO:0007601, non-motile cilium assembly, chaperone-mediated protein complex assembly, chaperone-mediated protein complex assembly, response to stimulus, photoreceptor cell maintenance, regulation of protein-containing complex assembly, visual perception, 52 43 31 50 59 70 26 61 47 ENSG00000179943 chr19 55591371 55601970 - FIZ1 protein_coding This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]. 84922 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:0046872, GO:0030971, GO:0003713, GO:0001102, metal ion binding, receptor tyrosine kinase binding, transcription coactivator activity, RNA polymerase II activating transcription factor binding, GO:0045944, GO:0001934, positive regulation of transcription by RNA polymerase II, positive regulation of protein phosphorylation, 49 52 62 37 26 63 58 35 30 ENSG00000179950 chr8 143816344 143829859 - PUF60 protein_coding This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. 22827 GO:0030054, GO:0005654, GO:0005654, cell junction, nucleoplasm, nucleoplasm, GO:0045296, GO:0042802, GO:0005515, GO:0003723, GO:0003677, cadherin binding, identical protein binding, protein binding, RNA binding, DNA binding, GO:0006915, GO:0006376, GO:0000398, GO:0000381, GO:0000380, apoptotic process, mRNA splice site selection, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, alternative mRNA splicing, via spliceosome, 59 37 48 43 26 46 50 35 67 ENSG00000179954 chr19 55488404 55519098 + SSC5D protein_coding 284297 GO:0062023, GO:0031012, GO:0016020, GO:0005737, GO:0005615, GO:0005615, collagen-containing extracellular matrix, extracellular matrix, membrane, cytoplasm, extracellular space, extracellular space, GO:0050840, GO:0050840, GO:0043236, GO:0005515, GO:0005044, GO:0001968, extracellular matrix binding, extracellular matrix binding, laminin binding, protein binding, scavenger receptor activity, fibronectin binding, GO:0050830, GO:0050829, GO:0045087, GO:0042494, GO:0042494, GO:0032717, GO:0007275, GO:0006952, GO:0006897, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, detection of bacterial lipoprotein, detection of bacterial lipoprotein, negative regulation of interleukin-8 production, multicellular organism development, defense response, endocytosis, 0 1 0 3 1 1 3 2 0 ENSG00000179958 chr16 30423619 30430075 - DCTPP1 protein_coding The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]. 79077 GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005634, cytosol, cytosol, cytosol, mitochondrion, nucleus, GO:0047840, GO:0047840, GO:0047429, GO:0047429, GO:0042802, GO:0032556, GO:0005515, GO:0000287, dCTP diphosphatase activity, dCTP diphosphatase activity, nucleoside-triphosphate diphosphatase activity, nucleoside-triphosphate diphosphatase activity, identical protein binding, pyrimidine deoxyribonucleotide binding, protein binding, magnesium ion binding, GO:0046076, GO:0042262, GO:0042262, GO:0009143, GO:0009143, GO:0006253, GO:0006253, dTTP catabolic process, DNA protection, DNA protection, nucleoside triphosphate catabolic process, nucleoside triphosphate catabolic process, dCTP catabolic process, dCTP catabolic process, 10 2 6 27 14 20 7 10 14 ENSG00000179965 chr16 30407297 30431108 + ZNF771 protein_coding 51333 GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleus, GO:1990837, GO:0046872, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 2 5 9 10 16 4 5 10 ENSG00000179967 chr4 139114930 139115374 - PPP1R14BP3 processed_pseudogene 76 68 64 87 134 91 101 82 97 ENSG00000179978 chr5 70094659 70128434 - AC140134.1 unprocessed_pseudogene 0 0 5 3 0 5 2 1 0 ENSG00000179981 chr18 75210755 75289950 + TSHZ1 protein_coding This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]. 10194 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0003677, GO:0003677, GO:0000981, GO:0000981, metal ion binding, DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0060023, GO:0042474, GO:0009952, GO:0006357, soft palate development, middle ear morphogenesis, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, 69 59 146 81 45 74 59 26 78 ENSG00000179988 chr10 122954381 122997513 + PSTK protein_coding 118672 GO:0043915, GO:0016301, GO:0005524, GO:0000049, L-seryl-tRNA(Sec) kinase activity, kinase activity, ATP binding, tRNA binding, GO:0097056, GO:0016310, GO:0006412, selenocysteinyl-tRNA(Sec) biosynthetic process, phosphorylation, translation, 122 153 117 100 157 123 157 105 130 ENSG00000179994 chr7 72862757 72870510 - SPDYE7P transcribed_unprocessed_pseudogene 441251 GO:0019901, protein kinase binding, 0 0 0 0 0 3 0 0 0 ENSG00000179997 chr2 174501952 174502312 + AC010894.1 processed_pseudogene 1 4 1 1 1 0 2 0 0 ENSG00000180008 chr14 55027230 55049488 + SOCS4 protein_coding The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 122809 GO:0005942, phosphatidylinositol 3-kinase complex, GO:0046935, GO:0005515, 1-phosphatidylinositol-3-kinase regulator activity, protein binding, GO:0046854, GO:0043551, GO:0040008, GO:0035556, GO:0032436, GO:0016567, GO:0007175, phosphatidylinositol phosphorylation, regulation of phosphatidylinositol 3-kinase activity, regulation of growth, intracellular signal transduction, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, negative regulation of epidermal growth factor-activated receptor activity, 380 348 391 222 241 270 252 247 295 ENSG00000180011 chr18 75195108 75209348 - ZADH2 protein_coding 284273 GO:0005777, peroxisome, GO:0047522, GO:0036132, GO:0008270, GO:0003674, 15-oxoprostaglandin 13-oxidase activity, 13-prostaglandin reductase activity, zinc ion binding, molecular_function, GO:0055114, GO:0045599, GO:0008150, GO:0006693, oxidation-reduction process, negative regulation of fat cell differentiation, biological_process, prostaglandin metabolic process, 69 92 151 106 68 124 86 63 117 ENSG00000180015 chr4 188738373 188739494 + AC093909.1 processed_pseudogene 4 13 6 4 1 0 1 6 4 ENSG00000180016 chr17 3397104 3398410 - OR1E1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 8387 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180019 chr7 112446164 112446375 - AC079741.1 processed_pseudogene 1 3 6 0 2 2 0 2 4 ENSG00000180035 chr16 30378106 30400108 + ZNF48 protein_coding 197407 GO:0005634, nucleus, GO:0046872, GO:0042802, GO:0005515, GO:0001228, GO:0000978, metal ion binding, identical protein binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 19 24 45 51 28 103 39 44 58 ENSG00000180042 chr17 3385930 3386874 + AC087498.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000180043 chr19 55354908 55363260 - FAM71E2 protein_coding 284418 0 0 0 0 0 0 0 0 0 ENSG00000180044 chr3 160225496 160228213 + C3orf80 protein_coding 401097 GO:0016021, integral component of membrane, 1 0 0 0 0 0 0 0 0 ENSG00000180053 chr8 23702451 23706598 - NKX2-6 protein_coding This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]. 137814 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060039, GO:0060037, GO:0055015, GO:0055014, GO:0048565, GO:0045944, GO:0043586, GO:0043066, GO:0035050, GO:0035050, GO:0030154, GO:0030154, GO:0021854, GO:0008284, GO:0006357, pericardium development, pharyngeal system development, ventricular cardiac muscle cell development, atrial cardiac muscle cell development, digestive tract development, positive regulation of transcription by RNA polymerase II, tongue development, negative regulation of apoptotic process, embryonic heart tube development, embryonic heart tube development, cell differentiation, cell differentiation, hypothalamus development, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 3 0 0 0 ENSG00000180061 chr19 55312801 55334048 - TMEM150B protein_coding This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 284417 GO:0010008, GO:0005887, GO:0005764, GO:0000421, endosome membrane, integral component of plasma membrane, lysosome, autophagosome membrane, GO:0010506, GO:0006914, regulation of autophagy, autophagy, 1 1 0 0 5 10 2 5 1 ENSG00000180066 chr10 132444327 132449408 + C10orf91 lincRNA 0 0 0 2 0 0 6 0 3 ENSG00000180068 chr17 3309986 3311446 + OR3A4P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180071 chr9 38571358 38620660 - ANKRD18A protein_coding 253650 10 19 23 7 4 11 4 4 10 ENSG00000180083 chr20 45648563 45670270 - WFDC11 protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]. 259239 GO:0005615, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0019731, GO:0010951, innate immune response, antibacterial humoral response, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000180089 chr19 55226639 55229264 - TMEM86B protein_coding 255043 GO:0016021, GO:0016020, GO:0005789, GO:0005737, integral component of membrane, membrane, endoplasmic reticulum membrane, cytoplasm, GO:0047409, GO:0047409, GO:0047408, GO:0047408, GO:0042802, GO:0016803, GO:0005515, alkenylglycerophosphoethanolamine hydrolase activity, alkenylglycerophosphoethanolamine hydrolase activity, alkenylglycerophosphocholine hydrolase activity, alkenylglycerophosphocholine hydrolase activity, identical protein binding, ether hydrolase activity, protein binding, GO:0046485, GO:0036151, ether lipid metabolic process, phosphatidylcholine acyl-chain remodeling, 40 27 29 41 47 43 37 50 21 ENSG00000180090 chr17 3291017 3298360 - OR3A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 4994 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000180096 chr16 30378133 30395991 - SEPT1 protein_coding This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]. 1731 GO:0032153, GO:0031105, GO:0030496, GO:0015630, GO:0008021, GO:0005940, GO:0005815, cell division site, septin complex, midbody, microtubule cytoskeleton, synaptic vesicle, septin ring, microtubule organizing center, GO:0060090, GO:0042802, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, identical protein binding, GTP binding, protein binding, GTPase activity, GO:0061640, GO:0034613, GO:0017157, cytoskeleton-dependent cytokinesis, cellular protein localization, regulation of exocytosis, 78 64 219 278 106 369 197 116 184 ENSG00000180098 chr1 28553085 28578545 + TRNAU1AP protein_coding 54952 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003723, GO:0000049, protein binding, RNA binding, tRNA binding, GO:0001514, GO:0001514, selenocysteine incorporation, selenocysteine incorporation, 37 29 40 54 20 52 44 30 23 ENSG00000180104 chr5 443158 471937 + EXOC3 protein_coding The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]. 11336 GO:0048471, GO:0042734, GO:0030667, GO:0030496, GO:0030426, GO:0005829, GO:0005794, GO:0000145, perinuclear region of cytoplasm, presynaptic membrane, secretory granule membrane, midbody, growth cone, cytosol, Golgi apparatus, exocyst, GO:0045296, GO:0005515, GO:0000149, cadherin binding, protein binding, SNARE binding, GO:0051601, GO:0015031, GO:0006887, exocyst localization, protein transport, exocytosis, 975 1194 1165 977 1437 1238 981 1085 1014 ENSG00000180105 chr2 206410087 206410909 - AC017081.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180113 chr6 46687875 46704319 + TDRD6 protein_coding This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]. 221400 GO:0033391, GO:0005737, chromatoid body, cytoplasm, GO:0030154, GO:0007283, GO:0007275, cell differentiation, spermatogenesis, multicellular organism development, 2 6 5 2 5 2 8 0 0 ENSG00000180116 chr12 39626167 39908300 + C12orf40 protein_coding 283461 GO:0005515, protein binding, 0 2 1 2 1 0 2 1 0 ENSG00000180138 chr13 37103259 37105664 - CSNK1A1L protein_coding 122011 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, GO:0090090, GO:0018105, GO:0016055, negative regulation of canonical Wnt signaling pathway, peptidyl-serine phosphorylation, Wnt signaling pathway, 94 55 106 98 88 78 91 74 78 ENSG00000180139 chr10 88932390 88940820 + ACTA2-AS1 antisense 14 3 13 10 10 14 7 6 9 ENSG00000180150 chr22 43802544 43802772 + HMGN2P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180152 chr2 112853328 112854122 + XIAPP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180155 chr8 142771197 142777810 - LYNX1 protein_coding This gene encodes a GPI-anchored, cell membrane bound member of the Ly6/uPAR (LU) superfamily of proteins containing the unique three-finger LU domain. This protein interacts with nicotinic acetylcholine receptors (nAChRs), and is thought to function as a modulator of nAChR activity to prevent excessive excitation. Alternatively spliced transcript variants have been found for this gene. Read-through transcription between this gene and the neighboring downstream gene (SLURP2) generates naturally-occurring transcripts (LYNX1-SLURP2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Sep 2017]. 66004 GO:0045202, GO:0031225, GO:0030425, GO:0005886, GO:0005783, synapse, anchored component of membrane, dendrite, plasma membrane, endoplasmic reticulum, GO:0033130, GO:0030550, GO:0030548, GO:0008200, acetylcholine receptor binding, acetylcholine receptor inhibitor activity, acetylcholine receptor regulator activity, ion channel inhibitor activity, GO:2000272, GO:0099601, GO:0007271, negative regulation of signaling receptor activity, regulation of neurotransmitter receptor activity, synaptic transmission, cholinergic, 1 0 0 3 0 3 2 3 3 ENSG00000180172 chr13 21094315 21094714 - RPS12P23 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000180176 chr11 2163929 2171877 - TH protein_coding The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]. 7054 GO:0048471, GO:0043204, GO:0043204, GO:0043195, GO:0043005, GO:0033162, GO:0031410, GO:0030425, GO:0030424, GO:0009898, GO:0008021, GO:0005829, GO:0005790, GO:0005739, GO:0005737, GO:0005737, GO:0005634, perinuclear region of cytoplasm, perikaryon, perikaryon, terminal bouton, neuron projection, melanosome membrane, cytoplasmic vesicle, dendrite, axon, cytoplasmic side of plasma membrane, synaptic vesicle, cytosol, smooth endoplasmic reticulum, mitochondrion, cytoplasm, cytoplasm, nucleus, GO:0035240, GO:0034617, GO:0019904, GO:0019899, GO:0019825, GO:0016597, GO:0008199, GO:0008198, GO:0005515, GO:0004511, GO:0004511, dopamine binding, tetrahydrobiopterin binding, protein domain specific binding, enzyme binding, oxygen binding, amino acid binding, ferric iron binding, ferrous iron binding, protein binding, tyrosine 3-monooxygenase activity, tyrosine 3-monooxygenase activity, GO:1990384, GO:0071363, GO:0071333, GO:0071316, GO:0071312, GO:0071287, GO:0055114, GO:0052314, GO:0051602, GO:0051412, GO:0048596, GO:0046684, GO:0045472, GO:0045471, GO:0045471, GO:0043473, GO:0043434, GO:0042755, GO:0042745, GO:0042462, GO:0042423, GO:0042421, GO:0042418, GO:0042416, GO:0042214, GO:0042136, GO:0035902, GO:0035900, GO:0035690, GO:0035176, GO:0033076, GO:0032496, GO:0032355, GO:0031667, GO:0021987, GO:0018963, GO:0016137, GO:0015842, GO:0014823, GO:0010259, GO:0010043, GO:0009887, GO:0009653, GO:0009651, GO:0009635, GO:0009416, GO:0009414, GO:0008016, GO:0007626, GO:0007617, GO:0007613, GO:0007612, GO:0007605, GO:0007601, GO:0007507, GO:0007507, GO:0006665, GO:0006631, GO:0006585, GO:0006585, GO:0003007, GO:0001975, GO:0001963, GO:0001666, GO:0001666, hyaloid vascular plexus regression, cellular response to growth factor stimulus, cellular response to glucose stimulus, cellular response to nicotine, cellular response to alkaloid, cellular response to manganese ion, oxidation-reduction process, phytoalexin metabolic process, response to electrical stimulus, response to corticosterone, embryonic camera-type eye morphogenesis, response to pyrethroid, response to ether, response to ethanol, response to ethanol, pigmentation, response to peptide hormone, eating behavior, circadian sleep/wake cycle, eye photoreceptor cell development, catecholamine biosynthetic process, norepinephrine biosynthetic process, epinephrine biosynthetic process, dopamine biosynthetic process, terpene metabolic process, neurotransmitter biosynthetic process, response to immobilization stress, response to isolation stress, cellular response to drug, social behavior, isoquinoline alkaloid metabolic process, response to lipopolysaccharide, response to estradiol, response to nutrient levels, cerebral cortex development, phthalate metabolic process, glycoside metabolic process, aminergic neurotransmitter loading into synaptic vesicle, response to activity, multicellular organism aging, response to zinc ion, animal organ morphogenesis, anatomical structure morphogenesis, response to salt stress, response to herbicide, response to light stimulus, response to water deprivation, regulation of heart contraction, locomotory behavior, mating behavior, memory, learning, sensory perception of sound, visual perception, heart development, heart development, sphingolipid metabolic process, fatty acid metabolic process, dopamine biosynthetic process from tyrosine, dopamine biosynthetic process from tyrosine, heart morphogenesis, response to amphetamine, synaptic transmission, dopaminergic, response to hypoxia, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000180178 chr2 129990456 130051131 - FAR2P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180182 chrX 40648306 40735858 - MED14 protein_coding The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]. 9282 GO:0070847, GO:0016592, GO:0016592, GO:0016020, GO:0005654, GO:0005634, core mediator complex, mediator complex, mediator complex, membrane, nucleoplasm, nucleus, GO:0042809, GO:0030374, GO:0005515, GO:0003713, GO:0003712, GO:0003712, vitamin D receptor binding, nuclear receptor coactivator activity, protein binding, transcription coactivator activity, transcription coregulator activity, transcription coregulator activity, GO:0060261, GO:0045944, GO:0045893, GO:0019827, GO:0006367, GO:0006357, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, stem cell population maintenance, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 586 576 829 290 346 360 343 305 343 ENSG00000180185 chr16 1826941 1840207 + FAHD1 protein_coding 81889 GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005654, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, GO:0047621, GO:0046872, GO:0034545, GO:0018773, GO:0018773, GO:0008948, acylpyruvate hydrolase activity, metal ion binding, fumarylpyruvate hydrolase activity, acetylpyruvate hydrolase activity, acetylpyruvate hydrolase activity, oxaloacetate decarboxylase activity, GO:0006099, tricarboxylic acid cycle, 12 3 11 20 8 48 16 16 20 ENSG00000180189 chr14 58284773 58285363 + HMGB1P14 processed_pseudogene 3 2 6 1 6 5 4 6 0 ENSG00000180190 chr8 489792 545781 - TDRP protein_coding 157695 GO:0043231, GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0003674, molecular_function, GO:0007283, GO:0007283, spermatogenesis, spermatogenesis, 1 0 0 1 0 0 0 0 0 ENSG00000180198 chr1 28505943 28539300 + RCC1 protein_coding 1104 GO:0032991, GO:0031965, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000794, GO:0000785, GO:0000785, protein-containing complex, nuclear membrane, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, condensed nuclear chromosome, chromatin, chromatin, GO:0046982, GO:0043199, GO:0042393, GO:0031492, GO:0031491, GO:0031267, GO:0005515, GO:0005085, GO:0005085, GO:0005085, GO:0005085, GO:0003682, GO:0003682, protein heterodimerization activity, sulfate binding, histone binding, nucleosomal DNA binding, nucleosome binding, small GTPase binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, chromatin binding, chromatin binding, GO:1901673, GO:0051301, GO:0051225, GO:0031291, GO:0016032, GO:0007088, GO:0007059, GO:0007052, GO:0000082, regulation of mitotic spindle assembly, cell division, spindle assembly, Ran protein signal transduction, viral process, regulation of mitotic nuclear division, chromosome segregation, mitotic spindle organization, G1/S transition of mitotic cell cycle, 28 39 39 72 34 54 28 37 54 ENSG00000180205 chr20 45607939 45631268 - WFDC9 protein_coding The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008]. 259240 GO:0005615, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0019731, GO:0010951, innate immune response, antibacterial humoral response, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000180209 chr16 30370934 30377991 + MYLPF protein_coding 29895 GO:0005859, GO:0005829, GO:0005765, muscle myosin complex, cytosol, lysosomal membrane, GO:0008307, GO:0005515, GO:0005509, structural constituent of muscle, protein binding, calcium ion binding, GO:0007519, GO:0006955, GO:0006936, skeletal muscle tissue development, immune response, muscle contraction, 4 1 7 2 4 3 0 10 4 ENSG00000180210 chr11 46719180 46739506 + F2 protein_coding This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020]. 2147 GO:0072562, GO:0070062, GO:0062023, GO:0062023, GO:0009897, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, external side of plasma membrane, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0070053, GO:0008201, GO:0008083, GO:0005515, GO:0005509, GO:0005102, GO:0004252, GO:0004252, GO:0001530, thrombospondin receptor activity, heparin binding, growth factor activity, protein binding, calcium ion binding, signaling receptor binding, serine-type endopeptidase activity, serine-type endopeptidase activity, lipopolysaccharide binding, GO:2000379, GO:1900738, GO:1900182, GO:1900016, GO:0090218, GO:0070945, GO:0061844, GO:0051918, GO:0051838, GO:0051480, GO:0051281, GO:0050900, GO:0048712, GO:0046427, GO:0045861, GO:0044267, GO:0042730, GO:0032967, GO:0030449, GO:0030307, GO:0030194, GO:0030194, GO:0030193, GO:0030168, GO:0030168, GO:0030168, GO:0014068, GO:0010544, GO:0009611, GO:0008360, GO:0008284, GO:0007597, GO:0007596, GO:0007275, GO:0007186, GO:0007166, GO:0006953, GO:0006888, GO:0006508, GO:0001934, positive regulation of reactive oxygen species metabolic process, positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway, positive regulation of protein localization to nucleus, negative regulation of cytokine production involved in inflammatory response, positive regulation of lipid kinase activity, neutrophil-mediated killing of gram-negative bacterium, antimicrobial humoral immune response mediated by antimicrobial peptide, negative regulation of fibrinolysis, cytolysis by host of symbiont cells, regulation of cytosolic calcium ion concentration, positive regulation of release of sequestered calcium ion into cytosol, leukocyte migration, negative regulation of astrocyte differentiation, positive regulation of receptor signaling pathway via JAK-STAT, negative regulation of proteolysis, cellular protein metabolic process, fibrinolysis, positive regulation of collagen biosynthetic process, regulation of complement activation, positive regulation of cell growth, positive regulation of blood coagulation, positive regulation of blood coagulation, regulation of blood coagulation, platelet activation, platelet activation, platelet activation, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of platelet activation, response to wounding, regulation of cell shape, positive regulation of cell population proliferation, blood coagulation, intrinsic pathway, blood coagulation, multicellular organism development, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, acute-phase response, endoplasmic reticulum to Golgi vesicle-mediated transport, proteolysis, positive regulation of protein phosphorylation, 0 4 4 3 3 2 0 0 10 ENSG00000180211 chr6 39958414 39958833 - FO393411.1 processed_pseudogene 1 5 1 6 1 2 3 1 1 ENSG00000180219 chr12 99647753 99650046 + FAM71C protein_coding 196472 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000180221 chr10 58212541 58213036 - TPT1P10 processed_pseudogene 13 35 13 10 11 0 16 19 5 ENSG00000180228 chr2 178431414 178451512 - PRKRA protein_coding This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]. 8575 GO:0070578, GO:0048471, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005654, RISC-loading complex, perinuclear region of cytoplasm, membrane, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0070883, GO:0042803, GO:0042802, GO:0019899, GO:0008047, GO:0005515, GO:0003725, GO:0003723, pre-miRNA binding, protein homodimerization activity, identical protein binding, enzyme binding, enzyme activator activity, protein binding, double-stranded RNA binding, RNA binding, GO:2001244, GO:0050821, GO:0048705, GO:0043085, GO:0042474, GO:0042473, GO:0035196, GO:0034599, GO:0031054, GO:0030422, GO:0030422, GO:0016032, GO:0010586, GO:0009615, GO:0008285, GO:0006955, GO:0006468, positive regulation of intrinsic apoptotic signaling pathway, protein stabilization, skeletal system morphogenesis, positive regulation of catalytic activity, middle ear morphogenesis, outer ear morphogenesis, production of miRNAs involved in gene silencing by miRNA, cellular response to oxidative stress, pre-miRNA processing, production of siRNA involved in RNA interference, production of siRNA involved in RNA interference, viral process, miRNA metabolic process, response to virus, negative regulation of cell population proliferation, immune response, protein phosphorylation, 68 67 126 106 75 163 105 67 81 ENSG00000180229 chr15 20379495 20506180 - HERC2P3 transcribed_unprocessed_pseudogene 283755 GO:0046872, GO:0004842, metal ion binding, ubiquitin-protein transferase activity, GO:0016567, protein ubiquitination, 14 8 11 37 5 28 23 6 10 ENSG00000180230 chr10 119997086 119997709 - NACAP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180233 chr7 30284307 30367692 + ZNRF2 protein_coding 223082 GO:0042995, GO:0042734, GO:0032991, GO:0030659, GO:0010008, GO:0005886, GO:0005829, GO:0005765, GO:0005737, cell projection, presynaptic membrane, protein-containing complex, cytoplasmic vesicle membrane, endosome membrane, plasma membrane, cytosol, lysosomal membrane, cytoplasm, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0000209, protein polyubiquitination, 245 230 329 115 170 207 122 161 155 ENSG00000180245 chr4 109827994 109844604 + RRH protein_coding Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008]. 10692 GO:0005887, GO:0001750, integral component of plasma membrane, photoreceptor outer segment, GO:0008020, GO:0005515, GO:0004930, G protein-coupled photoreceptor activity, protein binding, G protein-coupled receptor activity, GO:0071482, GO:0018298, GO:0009584, GO:0007602, GO:0007601, GO:0007186, cellular response to light stimulus, protein-chromophore linkage, detection of visible light, phototransduction, visual perception, G protein-coupled receptor signaling pathway, 0 0 1 0 0 0 0 2 0 ENSG00000180251 chr2 102473303 102533972 + SLC9A4 protein_coding 389015 GO:0016324, GO:0016323, GO:0016021, GO:0005886, GO:0005886, apical plasma membrane, basolateral plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0015386, GO:0015385, potassium:proton antiporter activity, sodium:proton antiporter activity, GO:1902600, GO:0098719, GO:0098656, GO:0071805, GO:0051453, GO:0006811, GO:0002064, GO:0001696, proton transmembrane transport, sodium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, ion transport, epithelial cell development, gastric acid secretion, 3 0 2 0 0 0 0 0 4 ENSG00000180257 chr19 52949379 52962911 - ZNF816 protein_coding 125893 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 10 13 22 11 12 17 24 4 17 ENSG00000180259 chr20 4731282 4740668 - PRNT lincRNA 149830 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000180263 chr12 95076749 95217482 - FGD6 protein_coding 55785 GO:0030027, GO:0005856, GO:0005794, GO:0005737, GO:0005737, GO:0001726, lamellipodium, cytoskeleton, Golgi apparatus, cytoplasm, cytoplasm, ruffle, GO:0046872, GO:0031267, GO:0005085, GO:0005085, metal ion binding, small GTPase binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0046847, GO:0043087, GO:0030036, GO:0008360, GO:0007010, filopodium assembly, regulation of GTPase activity, actin cytoskeleton organization, regulation of cell shape, cytoskeleton organization, 10 12 8 4 25 16 8 8 8 ENSG00000180264 chr9 124451425 124478589 + ADGRD2 protein_coding 347088 GO:0016021, GO:0005887, integral component of membrane, integral component of plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007189, GO:0007186, GO:0007166, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180269 chr16 20031485 20073917 - GPR139 protein_coding This gene encodes a member of the rhodopsin family of G-protein-coupled receptors. The encoded protein is almost exclusively expressed in the central nervous system. L-tryptophan and L-phenylalanine may act as the physiologic ligands of the encoded protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 124274 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0042802, GO:0008188, identical protein binding, neuropeptide receptor activity, GO:0007218, GO:0007200, GO:0007186, neuropeptide signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180279 chr19 50808874 50818880 + LINC01869 lincRNA 284365 0 1 0 0 0 0 0 0 0 ENSG00000180284 chrX 103651735 103652106 - AL049610.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180287 chr1 242082986 242524696 - PLD5 protein_coding 200150 GO:0016021, integral component of membrane, GO:0003824, catalytic activity, 0 0 0 0 0 0 0 0 0 ENSG00000180304 chr15 64687573 64703281 - OAZ2 protein_coding The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamines. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 2, the second member of the antizyme family. Like antizyme 1, antizyme 2 has broad tissue distribution, inhibits ODC activity and polyamine uptake, and stimulates ODC degradation in vivo; however, it fails to promote ODC degradation in vitro. Antizyme 2 is expressed at lower levels than antizyme 1, but is evolutionary more conserved, suggesting it likely has an important biological role. Studies also show different subcellular localization of antizymes 1 and 2, indicating specific function for each antizyme in discrete compartments of the cell. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]. 4947 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0008073, GO:0008073, GO:0005515, ornithine decarboxylase inhibitor activity, ornithine decarboxylase inhibitor activity, protein binding, GO:1902268, GO:0090316, GO:0045732, GO:0045732, GO:0043086, GO:0006596, GO:0006595, GO:0006521, negative regulation of polyamine transmembrane transport, positive regulation of intracellular protein transport, positive regulation of protein catabolic process, positive regulation of protein catabolic process, negative regulation of catalytic activity, polyamine biosynthetic process, polyamine metabolic process, regulation of cellular amino acid metabolic process, 5801 5636 7109 1569 3190 2137 1897 2775 1814 ENSG00000180305 chr20 45629526 45631196 + WFDC10A protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]. 140832 GO:0005615, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0019731, GO:0010951, innate immune response, antibacterial humoral response, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000180316 chr6 36243203 36312229 + PNPLA1 protein_coding The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]. 285848 GO:0016020, GO:0005811, GO:0005737, GO:0005737, membrane, lipid droplet, cytoplasm, cytoplasm, GO:0004806, triglyceride lipase activity, GO:0055088, GO:0019433, lipid homeostasis, triglyceride catabolic process, 92 83 378 9 41 103 49 27 81 ENSG00000180318 chr12 85280107 85301784 + ALX1 protein_coding The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]. 8092 GO:0016604, GO:0005794, GO:0005667, GO:0005654, GO:0005634, GO:0000785, GO:0000785, nuclear body, Golgi apparatus, transcription regulator complex, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0042803, GO:0005515, GO:0001228, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, protein homodimerization activity, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060021, GO:0048704, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0030326, GO:0010718, GO:0009952, GO:0006357, GO:0001843, GO:0001755, GO:0000122, roof of mouth development, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, embryonic limb morphogenesis, positive regulation of epithelial to mesenchymal transition, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, neural tube closure, neural crest cell migration, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000180329 chr17 44673069 44689779 - CCDC43 protein_coding 124808 GO:0005829, cytosol, GO:0005515, protein binding, 12 22 28 183 224 217 172 162 129 ENSG00000180332 chr13 45192853 45194717 - KCTD4 protein_coding 386618 GO:0005515, protein binding, GO:0051260, protein homooligomerization, 0 0 0 4 3 5 2 0 4 ENSG00000180336 chr17 44656404 44690308 + MEIOC protein_coding 284071 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0070192, GO:0051729, GO:0051310, GO:0048599, GO:0048255, GO:0007286, GO:0007144, GO:0007141, GO:0007130, GO:0006302, chromosome organization involved in meiotic cell cycle, germline cell cycle switching, mitotic to meiotic cell cycle, metaphase plate congression, oocyte development, mRNA stabilization, spermatid development, female meiosis I, male meiosis I, synaptonemal complex assembly, double-strand break repair, 8 8 16 84 107 109 69 78 33 ENSG00000180340 chr17 44557459 44559570 + FZD2 protein_coding This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]. 2535 GO:0030669, GO:0016021, GO:0005925, GO:0005886, GO:0005886, GO:0005886, GO:0005737, clathrin-coated endocytic vesicle membrane, integral component of membrane, focal adhesion, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0042813, GO:0042813, GO:0042813, GO:0030165, GO:0017147, GO:0017147, GO:0005515, GO:0004930, Wnt-activated receptor activity, Wnt-activated receptor activity, Wnt-activated receptor activity, PDZ domain binding, Wnt-protein binding, Wnt-protein binding, protein binding, G protein-coupled receptor activity, GO:1904886, GO:0090179, GO:0090103, GO:0060119, GO:0060071, GO:0060071, GO:0060070, GO:0060070, GO:0060022, GO:0051091, GO:0045893, GO:0035567, GO:0030855, GO:0030182, GO:0016055, GO:0007608, GO:0007223, GO:0007186, GO:0003151, GO:0003150, GO:0003149, beta-catenin destruction complex disassembly, planar cell polarity pathway involved in neural tube closure, cochlea morphogenesis, inner ear receptor cell development, Wnt signaling pathway, planar cell polarity pathway, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, hard palate development, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription, DNA-templated, non-canonical Wnt signaling pathway, epithelial cell differentiation, neuron differentiation, Wnt signaling pathway, sensory perception of smell, Wnt signaling pathway, calcium modulating pathway, G protein-coupled receptor signaling pathway, outflow tract morphogenesis, muscular septum morphogenesis, membranous septum morphogenesis, 0 0 0 0 0 0 0 1 0 ENSG00000180346 chr4 89111500 89114899 + TIGD2 protein_coding The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]. 166815 GO:0005634, nucleus, GO:0003677, DNA binding, 2 4 11 15 6 5 11 5 0 ENSG00000180347 chr7 31514071 31658720 + ITPRID1 protein_coding 223075 GO:0005102, signaling receptor binding, 0 0 0 0 0 0 0 0 0 ENSG00000180353 chr3 121631399 121660927 - HCLS1 protein_coding 3059 GO:0030864, GO:0030427, GO:0005886, GO:0005886, GO:0005884, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005667, GO:0005634, GO:0005634, cortical actin cytoskeleton, site of polarized growth, plasma membrane, plasma membrane, actin filament, cytosol, mitochondrion, cytoplasm, cytoplasm, transcription regulator complex, nucleus, nucleus, GO:0051015, GO:0019901, GO:0017124, GO:0005515, GO:0001085, actin filament binding, protein kinase binding, SH3 domain binding, protein binding, RNA polymerase II transcription factor binding, GO:2000251, GO:2000107, GO:0071345, GO:0051897, GO:0051091, GO:0050731, GO:0045944, GO:0045651, GO:0042531, GO:0042307, GO:0035556, GO:0033138, GO:0030854, GO:0030833, GO:0030833, GO:0030218, GO:0030041, GO:0014068, GO:0009725, GO:0008284, GO:0006355, GO:0000122, positive regulation of actin cytoskeleton reorganization, negative regulation of leukocyte apoptotic process, cellular response to cytokine stimulus, positive regulation of protein kinase B signaling, positive regulation of DNA-binding transcription factor activity, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of transcription by RNA polymerase II, positive regulation of macrophage differentiation, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of protein import into nucleus, intracellular signal transduction, positive regulation of peptidyl-serine phosphorylation, positive regulation of granulocyte differentiation, regulation of actin filament polymerization, regulation of actin filament polymerization, erythrocyte differentiation, actin filament polymerization, positive regulation of phosphatidylinositol 3-kinase signaling, response to hormone, positive regulation of cell population proliferation, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 13657 13703 17848 7966 12540 11404 8921 9855 9397 ENSG00000180354 chr7 30134810 30162762 + MTURN protein_coding 222166 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0070374, GO:0046330, GO:0045654, GO:0032088, GO:0007275, positive regulation of ERK1 and ERK2 cascade, positive regulation of JNK cascade, positive regulation of megakaryocyte differentiation, negative regulation of NF-kappaB transcription factor activity, multicellular organism development, 475 508 485 292 589 384 396 447 400 ENSG00000180357 chr15 64460742 64686068 + ZNF609 protein_coding 23060 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:1990841, GO:0046872, promoter-specific chromatin binding, metal ion binding, GO:2001224, GO:2000291, GO:0045944, GO:0007517, GO:0006357, GO:0006357, positive regulation of neuron migration, regulation of myoblast proliferation, positive regulation of transcription by RNA polymerase II, muscle organ development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 547 448 580 288 358 345 366 278 338 ENSG00000180370 chr3 196739857 196832647 + PAK2 protein_coding The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]. 5062 GO:0098978, GO:0048471, GO:0014069, GO:0005911, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, glutamatergic synapse, perinuclear region of cytoplasm, postsynaptic density, cell-cell junction, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0045296, GO:0042802, GO:0031267, GO:0030296, GO:0019901, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, cadherin binding, identical protein binding, small GTPase binding, protein tyrosine kinase activator activity, protein kinase binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2001271, GO:2001238, GO:0150105, GO:0071407, GO:0070830, GO:0061098, GO:0060996, GO:0051497, GO:0051493, GO:0050852, GO:0050770, GO:0050731, GO:0050690, GO:0048010, GO:0046777, GO:0043066, GO:0040008, GO:0038095, GO:0035722, GO:0034333, GO:0032147, GO:0031295, GO:0031098, GO:0023014, GO:0018105, GO:0016310, GO:0007165, GO:0006915, GO:0006469, GO:0006468, GO:0002223, negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis, positive regulation of extrinsic apoptotic signaling pathway, protein localization to cell-cell junction, cellular response to organic cyclic compound, bicellular tight junction assembly, positive regulation of protein tyrosine kinase activity, dendritic spine development, negative regulation of stress fiber assembly, regulation of cytoskeleton organization, T cell receptor signaling pathway, regulation of axonogenesis, positive regulation of peptidyl-tyrosine phosphorylation, regulation of defense response to virus by virus, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, negative regulation of apoptotic process, regulation of growth, Fc-epsilon receptor signaling pathway, interleukin-12-mediated signaling pathway, adherens junction assembly, activation of protein kinase activity, T cell costimulation, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, peptidyl-serine phosphorylation, phosphorylation, signal transduction, apoptotic process, negative regulation of protein kinase activity, protein phosphorylation, stimulatory C-type lectin receptor signaling pathway, 4946 5501 5447 1788 3492 2502 2405 2989 2188 ENSG00000180376 chr3 56557161 56621818 + CCDC66 protein_coding 285331 GO:0090543, GO:0036064, GO:0035869, GO:0034451, GO:0030054, GO:0005929, GO:0005929, GO:0005874, GO:0005874, GO:0005829, GO:0005813, GO:0001917, GO:0001917, GO:0001750, Flemming body, ciliary basal body, ciliary transition zone, centriolar satellite, cell junction, cilium, cilium, microtubule, microtubule, cytosol, centrosome, photoreceptor inner segment, photoreceptor inner segment, photoreceptor outer segment, GO:0042803, GO:0008017, GO:0008017, GO:0005515, protein homodimerization activity, microtubule binding, microtubule binding, protein binding, GO:1903564, GO:0060271, GO:0060271, GO:0050908, GO:0001895, GO:0001578, regulation of protein localization to cilium, cilium assembly, cilium assembly, detection of light stimulus involved in visual perception, retina homeostasis, microtubule bundle formation, 61 65 86 106 56 148 100 48 95 ENSG00000180383 chr20 31465506 31476757 - DEFB124 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]. 245937 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0090026, GO:0071651, GO:0071224, GO:0045087, GO:0042742, GO:0007249, positive regulation of monocyte chemotaxis, positive regulation of chemokine (C-C motif) ligand 5 production, cellular response to peptidoglycan, innate immune response, defense response to bacterium, I-kappaB kinase/NF-kappaB signaling, 0 0 0 0 0 0 0 0 0 ENSG00000180385 chr3 9986893 10006990 + EMC3-AS1 transcribed_unprocessed_pseudogene 52 47 74 44 63 39 49 31 61 ENSG00000180386 chr17 41275659 41276697 + KRTAP9-7 protein_coding 100505724 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000180389 chr13 27945260 27945415 + ATP5F1EP2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000180398 chr2 46901870 46941855 - MCFD2 protein_coding This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]. 90411 GO:0033116, GO:0012507, GO:0005789, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, ER to Golgi transport vesicle membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0048208, GO:0018279, GO:0015031, GO:0006888, COPII vesicle coating, protein N-linked glycosylation via asparagine, protein transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 118 175 195 137 89 133 77 73 66 ENSG00000180409 chr1 158808399 158809335 - OR10AA1P unprocessed_pseudogene 1 23 8 10 22 0 12 16 9 ENSG00000180422 chr16 89159146 89164245 + LINC00304 lincRNA 283860 1 7 7 6 14 24 2 9 5 ENSG00000180423 chr11 46602861 46617909 - HARBI1 protein_coding 283254 GO:0034451, GO:0005886, GO:0005829, GO:0005634, centriolar satellite, plasma membrane, cytosol, nucleus, GO:0046872, GO:0004518, metal ion binding, nuclease activity, GO:0090305, nucleic acid phosphodiester bond hydrolysis, 102 123 153 50 93 102 99 64 70 ENSG00000180424 chr20 31440519 31450257 + DEFB123 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]. 245936 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000180425 chr11 114391443 114400511 - C11orf71 protein_coding 54494 109 91 112 126 160 195 150 125 140 ENSG00000180432 chr3 42856005 42876165 - CYP8B1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]. 1582 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0020037, GO:0019825, GO:0008397, GO:0008397, GO:0005506, heme binding, oxygen binding, sterol 12-alpha-hydroxylase activity, sterol 12-alpha-hydroxylase activity, iron ion binding, GO:0070723, GO:0055114, GO:0045797, GO:0038183, GO:0031667, GO:0016125, GO:0006699, GO:0006699, response to cholesterol, oxidation-reduction process, positive regulation of intestinal cholesterol absorption, bile acid signaling pathway, response to nutrient levels, sterol metabolic process, bile acid biosynthetic process, bile acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000180433 chr1 158754720 158755891 + OR6K6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 128371 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180437 chr1 158724113 158725067 - OR6K4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180438 chr3 13937273 14082811 + TPRXL transcribed_processed_pseudogene Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]. 348825 0 0 0 2 0 0 0 0 0 ENSG00000180440 chr13 36673912 36697839 + SERTM1 protein_coding 400120 GO:0043231, GO:0043231, GO:0016021, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000180447 chr9 86944363 86947189 - GAS1 protein_coding Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]. 2619 GO:0046658, GO:0016021, GO:0005886, GO:0005886, GO:0005886, anchored component of plasma membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0060628, GO:0048589, GO:0045930, GO:0045930, GO:0045930, GO:0045165, GO:0042981, GO:0035924, GO:0010955, GO:0008589, GO:0007050, regulation of ER to Golgi vesicle-mediated transport, developmental growth, negative regulation of mitotic cell cycle, negative regulation of mitotic cell cycle, negative regulation of mitotic cell cycle, cell fate commitment, regulation of apoptotic process, cellular response to vascular endothelial growth factor stimulus, negative regulation of protein processing, regulation of smoothened signaling pathway, cell cycle arrest, 0 0 2 2 1 7 1 0 0 ENSG00000180448 chr19 1065923 1086628 + ARHGAP45 protein_coding 23526 GO:0035578, GO:0034774, GO:0032587, GO:0016020, GO:0005829, GO:0005576, azurophil granule lumen, secretory granule lumen, ruffle membrane, membrane, cytosol, extracellular region, GO:0046872, GO:0005515, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GO:0090630, GO:0051056, GO:0043312, GO:0035556, activation of GTPase activity, regulation of small GTPase mediated signal transduction, neutrophil degranulation, intracellular signal transduction, 7348 7923 10522 7778 9796 10355 8126 6939 8462 ENSG00000180458 chr19 37545470 37549171 - AC022148.1 antisense 0 0 0 1 0 0 2 1 0 ENSG00000180475 chr11 58227882 58228918 - OR10Q1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219960 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180479 chr19 37554782 37594790 - ZNF571 protein_coding 51276 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 14 12 9 23 7 24 25 8 19 ENSG00000180481 chr12 75391070 75432688 + GLIPR1L2 protein_coding This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 144321 GO:0016021, GO:0005615, integral component of membrane, extracellular space, GO:0007339, binding of sperm to zona pellucida, 1 0 0 2 0 1 0 0 0 ENSG00000180483 chr20 31377164 31390603 - DEFB119 protein_coding This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]. 245932 GO:0005576, extracellular region, GO:0001530, lipopolysaccharide binding, GO:0061760, GO:0050830, GO:0050829, antifungal innate immune response, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000180488 chr1 77779624 77879539 + MIGA1 protein_coding 374986 GO:0005887, GO:0005741, GO:0005739, integral component of plasma membrane, mitochondrial outer membrane, mitochondrion, GO:0046982, GO:0042803, GO:0005515, protein heterodimerization activity, protein homodimerization activity, protein binding, GO:0008053, GO:0008053, mitochondrial fusion, mitochondrial fusion, 65 71 95 61 79 101 72 63 79 ENSG00000180509 chr21 34446688 34512275 - KCNE1 protein_coding The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 3753 GO:0045121, GO:0030018, GO:0016324, GO:0009986, GO:0008076, GO:0008076, GO:0008076, GO:0008076, GO:0005886, GO:0005886, GO:0005886, GO:0005764, membrane raft, Z disc, apical plasma membrane, cell surface, voltage-gated potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, plasma membrane, lysosome, GO:1902282, GO:1902282, GO:0086008, GO:0044325, GO:0031433, GO:0015459, GO:0015459, GO:0005515, GO:0005251, GO:0005251, GO:0005251, GO:0005249, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization, ion channel binding, telethonin binding, potassium channel regulator activity, potassium channel regulator activity, protein binding, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:1902260, GO:1902260, GO:1902259, GO:1901381, GO:1901379, GO:0098915, GO:0097623, GO:0097623, GO:0090315, GO:0086091, GO:0086091, GO:0086013, GO:0086013, GO:0086011, GO:0086011, GO:0086009, GO:0086005, GO:0086005, GO:0086002, GO:0071805, GO:0071320, GO:0061337, GO:0060307, GO:0060307, GO:0007605, negative regulation of delayed rectifier potassium channel activity, negative regulation of delayed rectifier potassium channel activity, regulation of delayed rectifier potassium channel activity, positive regulation of potassium ion transmembrane transport, regulation of potassium ion transmembrane transport, membrane repolarization during ventricular cardiac muscle cell action potential, potassium ion export across plasma membrane, potassium ion export across plasma membrane, negative regulation of protein targeting to membrane, regulation of heart rate by cardiac conduction, regulation of heart rate by cardiac conduction, membrane repolarization during cardiac muscle cell action potential, membrane repolarization during cardiac muscle cell action potential, membrane repolarization during action potential, membrane repolarization during action potential, membrane repolarization, ventricular cardiac muscle cell action potential, ventricular cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, potassium ion transmembrane transport, cellular response to cAMP, cardiac conduction, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of ventricular cardiac muscle cell membrane repolarization, sensory perception of sound, 87 227 249 29 280 218 46 187 194 ENSG00000180525 chr10 649948 669581 + PRR26 protein_coding 414235 0 0 0 0 0 0 0 0 0 ENSG00000180530 chr21 14961235 15065936 - NRIP1 protein_coding Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008]. 8204 GO:0016607, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000785, GO:0000118, nuclear speck, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, chromatin, histone deacetylase complex, GO:0046965, GO:0042826, GO:0035259, GO:0035259, GO:0035257, GO:0030331, GO:0030331, GO:0005515, GO:0003714, GO:0003714, GO:0003713, GO:0003713, GO:0000978, retinoid X receptor binding, histone deacetylase binding, glucocorticoid receptor binding, glucocorticoid receptor binding, nuclear hormone receptor binding, estrogen receptor binding, estrogen receptor binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071392, GO:0071392, GO:0045944, GO:0045944, GO:0032922, GO:0032922, GO:0019915, GO:0007623, GO:0001543, GO:0000122, GO:0000122, cellular response to estradiol stimulus, cellular response to estradiol stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, circadian regulation of gene expression, circadian regulation of gene expression, lipid storage, circadian rhythm, ovarian follicle rupture, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 150 65 325 127 52 165 119 41 73 ENSG00000180532 chr19 57668935 57679152 + ZSCAN4 protein_coding The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]. 201516 GO:0000785, GO:0000781, chromatin, chromosome, telomeric region, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045950, GO:0010833, GO:0006357, negative regulation of mitotic recombination, telomere maintenance via telomere lengthening, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000180535 chr7 98211427 98212979 + BHLHA15 protein_coding 168620 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046983, GO:0042802, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, identical protein binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048469, GO:0048312, GO:0045944, GO:0042593, GO:0042149, GO:0030968, GO:0030182, GO:0019722, GO:0010832, GO:0007267, GO:0007186, GO:0007030, GO:0006851, GO:0006357, cell maturation, intracellular distribution of mitochondria, positive regulation of transcription by RNA polymerase II, glucose homeostasis, cellular response to glucose starvation, endoplasmic reticulum unfolded protein response, neuron differentiation, calcium-mediated signaling, negative regulation of myotube differentiation, cell-cell signaling, G protein-coupled receptor signaling pathway, Golgi organization, mitochondrial calcium ion transmembrane transport, regulation of transcription by RNA polymerase II, 0 1 0 6 3 0 1 2 0 ENSG00000180537 chr6 13924446 13980302 + RNF182 protein_coding 221687 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0046872, GO:0005515, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0016567, GO:0016567, protein ubiquitination, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000180539 chr9 137027464 137037957 + C9orf139 antisense 401563 174 204 239 43 123 116 75 102 72 ENSG00000180543 chr8 97273474 97277964 - TSPYL5 protein_coding 85453 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0071480, GO:0051897, GO:0040008, GO:0031398, GO:0008284, GO:0008284, GO:0006334, cellular response to gamma radiation, positive regulation of protein kinase B signaling, regulation of growth, positive regulation of protein ubiquitination, positive regulation of cell population proliferation, positive regulation of cell population proliferation, nucleosome assembly, 1 1 2 7 4 21 9 4 14 ENSG00000180549 chr9 137030174 137033010 - FUT7 protein_coding The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008]. 2529 GO:0032580, GO:0016021, GO:0016020, GO:0005802, GO:0005794, GO:0005794, Golgi cisterna membrane, integral component of membrane, membrane, trans-Golgi network, Golgi apparatus, Golgi apparatus, GO:0046920, GO:0046920, GO:0046920, GO:0046920, GO:0017083, GO:0008417, GO:0005515, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, fucosyltransferase activity, protein binding, GO:2000389, GO:1904996, GO:1903238, GO:1903236, GO:1903037, GO:0097021, GO:0060353, GO:0046626, GO:0045785, GO:0042355, GO:0036065, GO:0022409, GO:0022407, GO:0007566, GO:0006954, GO:0006672, GO:0006486, GO:0006486, GO:0006486, GO:0002523, GO:0002522, GO:0002361, GO:0001807, regulation of neutrophil extravasation, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of leukocyte tethering or rolling, regulation of leukocyte tethering or rolling, regulation of leukocyte cell-cell adhesion, lymphocyte migration into lymphoid organs, regulation of cell adhesion molecule production, regulation of insulin receptor signaling pathway, positive regulation of cell adhesion, L-fucose catabolic process, fucosylation, positive regulation of cell-cell adhesion, regulation of cell-cell adhesion, embryo implantation, inflammatory response, ceramide metabolic process, protein glycosylation, protein glycosylation, protein glycosylation, leukocyte migration involved in inflammatory response, leukocyte migration involved in immune response, CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation, regulation of type IV hypersensitivity, 159 148 201 81 166 113 102 137 123 ENSG00000180573 chr6 26124145 26139116 + HIST1H2AC protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8334 GO:0070062, GO:0005654, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleoplasm, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, GO:0003674, protein heterodimerization activity, protein binding, DNA binding, molecular_function, GO:0008285, GO:0006342, negative regulation of cell population proliferation, chromatin silencing, 6900 8746 7544 2032 5276 3403 3431 5887 4071 ENSG00000180574 chr12 10505602 10523135 + EIF2S3B protein_coding 255308 GO:0005850, GO:0005829, eukaryotic translation initiation factor 2 complex, cytosol, GO:0005525, GO:0003924, GO:0003743, GO:0000049, GTP binding, GTPase activity, translation initiation factor activity, tRNA binding, GO:0045903, GO:0001731, positive regulation of translational fidelity, formation of translation preinitiation complex, 41 36 25 20 19 25 8 41 15 ENSG00000180581 chr10 91807179 91807439 - SRP9P1 processed_pseudogene 3 6 2 3 2 3 2 2 4 ENSG00000180592 chr10 21513478 21526368 - SKIDA1 protein_coding 387640 1 0 0 0 2 0 0 0 0 ENSG00000180596 chr6 26114873 26123926 - HIST1H2BC protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. The protein has antibacterial and antifungal antimicrobial activity. The main transcript variant of this gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. This transcript variant lacks a polyA tail but instead contains a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Apr 2020]. 8347 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005615, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, extracellular space, nucleosome, GO:0046982, GO:0042802, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, identical protein binding, protein binding, DNA binding, DNA binding, GO:0061844, GO:0050830, GO:0019731, GO:0016567, GO:0006334, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, antibacterial humoral response, protein ubiquitination, nucleosome assembly, nucleosome assembly, innate immune response in mucosa, 4428 4930 3301 871 2201 1141 1524 2846 1276 ENSG00000180610 chr4 39770081 39771371 - ZBTB12BP processed_pseudogene 2 2 3 6 22 9 8 5 14 ENSG00000180611 chr3 192796815 192918161 - MB21D2 protein_coding 151963 GO:0045296, GO:0044877, GO:0005515, cadherin binding, protein-containing complex binding, protein binding, 6 2 7 9 3 3 11 0 2 ENSG00000180613 chr4 54099523 54102505 + GSX2 protein_coding 170825 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:1990837, GO:0000981, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0060163, GO:0048853, GO:0048714, GO:0048665, GO:0045747, GO:0030334, GO:0021978, GO:0021889, GO:0021798, GO:0021575, GO:0021527, GO:0006357, GO:0002087, subpallium neuron fate commitment, forebrain morphogenesis, positive regulation of oligodendrocyte differentiation, neuron fate specification, positive regulation of Notch signaling pathway, regulation of cell migration, telencephalon regionalization, olfactory bulb interneuron differentiation, forebrain dorsal/ventral pattern formation, hindbrain morphogenesis, spinal cord association neuron differentiation, regulation of transcription by RNA polymerase II, regulation of respiratory gaseous exchange by nervous system process, 0 0 0 0 0 0 0 0 0 ENSG00000180616 chr17 73165012 73176633 + SSTR2 protein_coding Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR2 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in cerebrum and kidney. [provided by RefSeq, Jul 2008]. 6752 GO:0043005, GO:0005887, GO:0005886, GO:0005829, neuron projection, integral component of plasma membrane, plasma membrane, cytosol, GO:0042923, GO:0042277, GO:0030165, GO:0005515, GO:0004994, GO:0004930, neuropeptide binding, peptide binding, PDZ domain binding, protein binding, somatostatin receptor activity, G protein-coupled receptor activity, GO:0071392, GO:0071385, GO:0042594, GO:0038170, GO:0030900, GO:0030432, GO:0021549, GO:0008285, GO:0007283, GO:0007218, GO:0007193, GO:0007187, GO:0007186, GO:0006937, cellular response to estradiol stimulus, cellular response to glucocorticoid stimulus, response to starvation, somatostatin signaling pathway, forebrain development, peristalsis, cerebellum development, negative regulation of cell population proliferation, spermatogenesis, neuropeptide signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, regulation of muscle contraction, 0 0 0 0 8 8 1 3 0 ENSG00000180626 chr17 5179536 5191883 - ZNF594 protein_coding 84622 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 7 2 4 24 4 11 23 5 31 ENSG00000180628 chr10 91163012 91284331 + PCGF5 protein_coding 84333 GO:0035102, GO:0031519, GO:0005813, GO:0005654, GO:0005634, GO:0000805, PRC1 complex, PcG protein complex, centrosome, nucleoplasm, nucleus, X chromosome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0060819, GO:0060819, GO:0045944, GO:0036353, GO:0036353, GO:0006357, inactivation of X chromosome by genetic imprinting, inactivation of X chromosome by genetic imprinting, positive regulation of transcription by RNA polymerase II, histone H2A-K119 monoubiquitination, histone H2A-K119 monoubiquitination, regulation of transcription by RNA polymerase II, 340 293 491 308 248 379 301 233 264 ENSG00000180638 chr17 19678288 19718979 - SLC47A2 protein_coding This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 146802 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0042910, GO:0022857, GO:0015297, xenobiotic transmembrane transporter activity, transmembrane transporter activity, antiporter activity, GO:0055085, GO:0042908, transmembrane transport, xenobiotic transport, 0 0 0 0 0 0 0 0 0 ENSG00000180644 chr10 70597348 70602775 - PRF1 protein_coding This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]. 5551 GO:0044194, GO:0044194, GO:0031904, GO:0016021, GO:0016020, GO:0005886, GO:0005829, GO:0005576, cytolytic granule, cytolytic granule, endosome lumen, integral component of membrane, membrane, plasma membrane, cytosol, extracellular region, GO:0042802, GO:0022829, GO:0005515, GO:0005509, identical protein binding, wide pore channel activity, protein binding, calcium ion binding, GO:0055085, GO:0051712, GO:0051607, GO:0051260, GO:0019835, GO:0006968, GO:0006915, GO:0002418, GO:0002357, GO:0001913, GO:0001771, transmembrane transport, positive regulation of killing of cells of other organism, defense response to virus, protein homooligomerization, cytolysis, cellular defense response, apoptotic process, immune response to tumor cell, defense response to tumor cell, T cell mediated cytotoxicity, immunological synapse formation, 103 143 212 381 249 662 271 310 615 ENSG00000180658 chr6 131699644 131701401 - OR2A4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79541 GO:1990023, GO:0097431, GO:0090543, GO:0055037, GO:0032154, GO:0016021, GO:0016021, GO:0005886, mitotic spindle midzone, mitotic spindle pole, Flemming body, recycling endosome, cleavage furrow, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, GO:0003674, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, molecular_function, GO:0050911, GO:0050911, GO:0032956, GO:0032467, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, regulation of actin cytoskeleton organization, positive regulation of cytokinesis, G protein-coupled receptor signaling pathway, 0 0 0 0 2 0 1 0 0 ENSG00000180660 chr13 35474182 35477209 - MAB21L1 protein_coding This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]. 4081 GO:0005634, nucleus, GO:0046872, GO:0016779, GO:0005525, GO:0005524, GO:0005515, metal ion binding, nucleotidyltransferase activity, GTP binding, ATP binding, protein binding, GO:0043010, GO:0009653, GO:0008284, GO:0001654, camera-type eye development, anatomical structure morphogenesis, positive regulation of cell population proliferation, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000180662 chr14 65467807 65468341 - RPL21P8 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000180663 chr16 31807926 31808844 - VN1R3 unitary_pseudogene 317702 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0016503, pheromone receptor activity, GO:0019236, GO:0007186, response to pheromone, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180667 chr1 207043849 207052980 - YOD1 protein_coding Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 55432 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:1990380, GO:0101005, GO:0061578, GO:0046872, GO:0031625, GO:0008234, GO:0005515, GO:0004843, GO:0004843, Lys48-specific deubiquitinase activity, ubiquitinyl hydrolase activity, Lys63-specific deubiquitinase activity, metal ion binding, ubiquitin protein ligase binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1990168, GO:1990167, GO:1904153, GO:0071108, GO:0071108, GO:0070536, GO:0070536, GO:0035871, GO:0035871, GO:0035523, GO:0030968, GO:0030968, GO:0030433, GO:0030433, GO:0016579, GO:0016579, GO:0016236, protein K33-linked deubiquitination, protein K27-linked deubiquitination, negative regulation of retrograde protein transport, ER to cytosol, protein K48-linked deubiquitination, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein K63-linked deubiquitination, protein K11-linked deubiquitination, protein K11-linked deubiquitination, protein K29-linked deubiquitination, endoplasmic reticulum unfolded protein response, endoplasmic reticulum unfolded protein response, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein deubiquitination, protein deubiquitination, macroautophagy, 486 313 501 324 339 440 360 317 380 ENSG00000180673 chr4 62816826 62818794 + EXOC5P1 processed_pseudogene 6 2 0 0 6 3 0 2 1 ENSG00000180694 chr8 90621995 90791632 - TMEM64 protein_coding 169200 GO:0016021, GO:0005783, integral component of membrane, endoplasmic reticulum, GO:0090090, GO:0051480, GO:0045780, GO:0045672, GO:0045668, GO:0045600, GO:0043462, negative regulation of canonical Wnt signaling pathway, regulation of cytosolic calcium ion concentration, positive regulation of bone resorption, positive regulation of osteoclast differentiation, negative regulation of osteoblast differentiation, positive regulation of fat cell differentiation, regulation of ATPase activity, 27 27 64 30 27 43 43 12 39 ENSG00000180697 chr3 126526999 126558965 - C3orf22 protein_coding 152065 4 1 2 1 2 4 2 1 1 ENSG00000180708 chr1 158418210 158426237 - OR10K2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391107 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180712 chr4 184340756 184353977 - LINC02363 lincRNA 20 28 17 22 52 34 18 28 24 ENSG00000180714 chr11 57917297 57918239 - OR5AZ1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180720 chr11 46385098 46386608 - CHRM4 protein_coding The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]. 1132 GO:0045211, GO:0045202, GO:0030425, GO:0005887, GO:0005886, postsynaptic membrane, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0016907, GO:0005515, GO:0004993, neurotransmitter receptor activity, G protein-coupled acetylcholine receptor activity, protein binding, G protein-coupled serotonin receptor activity, GO:0098664, GO:0040012, GO:0007268, GO:0007213, GO:0007197, GO:0007187, GO:0007186, GO:0007166, GO:0007165, G protein-coupled serotonin receptor signaling pathway, regulation of locomotion, chemical synaptic transmission, G protein-coupled acetylcholine receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, 5 4 5 2 1 4 3 1 1 ENSG00000180723 chr11 4660853 4661763 - OR51A9P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180730 chr13 26044597 26051031 - SHISA2 protein_coding 387914 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0040037, GO:0030178, GO:0007275, negative regulation of fibroblast growth factor receptor signaling pathway, negative regulation of Wnt signaling pathway, multicellular organism development, 1 0 3 8 0 24 32 1 16 ENSG00000180739 chr19 10512742 10517931 - S1PR5 protein_coding The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008]. 53637 GO:0016021, GO:0005886, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, GO:0038036, GO:0005515, GO:0004930, sphingosine-1-phosphate receptor activity, protein binding, G protein-coupled receptor activity, GO:0045664, GO:0019222, GO:0007189, GO:0007186, GO:0003376, regulation of neuron differentiation, regulation of metabolic process, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, sphingosine-1-phosphate receptor signaling pathway, 41 51 149 95 35 142 87 39 134 ENSG00000180745 chr10 127877841 127892947 - CLRN3 protein_coding 119467 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 1 0 ENSG00000180747 chr16 21446683 21520444 - SMG1P3 transcribed_unprocessed_pseudogene 57 86 68 92 121 99 74 113 95 ENSG00000180758 chr1 9100305 9129170 - GPR157 protein_coding 80045 GO:0060170, GO:0016021, ciliary membrane, integral component of membrane, GO:0004930, G protein-coupled receptor activity, GO:0060019, GO:0051482, GO:0048512, GO:0007186, GO:0007166, radial glial cell differentiation, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, circadian behavior, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 60 51 46 42 60 74 81 63 40 ENSG00000180764 chr10 93958191 93961540 - PIPSL transcribed_processed_pseudogene 5 13 10 3 3 5 4 5 2 ENSG00000180767 chr3 126524283 126543291 + CHST13 protein_coding The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]. 166012 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0047756, GO:0008146, GO:0005515, GO:0001537, chondroitin 4-sulfotransferase activity, sulfotransferase activity, protein binding, N-acetylgalactosamine 4-O-sulfotransferase activity, GO:0030206, GO:0030206, GO:0030166, GO:0016051, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, proteoglycan biosynthetic process, carbohydrate biosynthetic process, 71 74 64 23 90 19 53 66 34 ENSG00000180769 chr4 84965682 85011277 + WDFY3-AS2 processed_transcript 404201 28 19 17 7 17 7 11 12 8 ENSG00000180770 chr3 130021553 130022520 - OR7E129P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180772 chrX 116170722 116174972 + AGTR2 protein_coding The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus and in neonates, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked cognitive disability. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and SARS-CoV-2 infection results in down-regulation of angiotensin converting enzyme-2 (ACE2) receptors, the effects of which, triggers serious inflammatory lesions in the tissues involved, primarily in the lungs. The inflammatory reaction appears to be mediated by angiotensin II derivatives, including the angiotensin AT2 receptor which has been found to be upregulated in bronchoalveolar lavage samples from Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq, Jul 2020]. 186 GO:0048471, GO:0005887, GO:0005886, GO:0005886, perinuclear region of cytoplasm, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0048019, GO:0008134, GO:0005515, GO:0004945, GO:0004945, GO:0004930, receptor antagonist activity, transcription factor binding, protein binding, angiotensin type II receptor activity, angiotensin type II receptor activity, G protein-coupled receptor activity, GO:2001238, GO:2000272, GO:0097755, GO:0090190, GO:0072300, GO:0071549, GO:0061049, GO:0051387, GO:0051000, GO:0048147, GO:0045893, GO:0045429, GO:0043537, GO:0042416, GO:0042311, GO:0042306, GO:0038166, GO:0035932, GO:0035815, GO:0035640, GO:0035566, GO:0035556, GO:0032516, GO:0032304, GO:0030308, GO:0021695, GO:0010700, GO:0010459, GO:0008284, GO:0008217, GO:0007420, GO:0007263, GO:0007263, GO:0007199, GO:0007186, GO:0007186, GO:0007186, GO:0007166, GO:0006954, GO:0006883, GO:0002035, GO:0002033, GO:0002018, GO:0001991, GO:0001974, GO:0001819, positive regulation of extrinsic apoptotic signaling pathway, negative regulation of signaling receptor activity, positive regulation of blood vessel diameter, positive regulation of branching involved in ureteric bud morphogenesis, positive regulation of metanephric glomerulus development, cellular response to dexamethasone stimulus, cell growth involved in cardiac muscle cell development, negative regulation of neurotrophin TRK receptor signaling pathway, positive regulation of nitric-oxide synthase activity, negative regulation of fibroblast proliferation, positive regulation of transcription, DNA-templated, positive regulation of nitric oxide biosynthetic process, negative regulation of blood vessel endothelial cell migration, dopamine biosynthetic process, vasodilation, regulation of protein import into nucleus, angiotensin-activated signaling pathway, aldosterone secretion, positive regulation of renal sodium excretion, exploration behavior, regulation of metanephros size, intracellular signal transduction, positive regulation of phosphoprotein phosphatase activity, negative regulation of icosanoid secretion, negative regulation of cell growth, cerebellar cortex development, negative regulation of norepinephrine secretion, negative regulation of heart rate, positive regulation of cell population proliferation, regulation of blood pressure, brain development, nitric oxide mediated signal transduction, nitric oxide mediated signal transduction, G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, inflammatory response, cellular sodium ion homeostasis, brain renin-angiotensin system, angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure, renin-angiotensin regulation of aldosterone production, regulation of systemic arterial blood pressure by circulatory renin-angiotensin, blood vessel remodeling, positive regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000180773 chr11 93144171 93197964 - SLC36A4 protein_coding SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]. 120103 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015293, GO:0015196, GO:0015196, GO:0015193, GO:0015193, GO:0015193, GO:0015180, GO:0015180, GO:0015171, symporter activity, L-tryptophan transmembrane transporter activity, L-tryptophan transmembrane transporter activity, L-proline transmembrane transporter activity, L-proline transmembrane transporter activity, L-proline transmembrane transporter activity, L-alanine transmembrane transporter activity, L-alanine transmembrane transporter activity, amino acid transmembrane transporter activity, GO:1904556, GO:1904271, GO:0015827, GO:0015824, GO:0015808, GO:0015808, GO:0003333, L-tryptophan transmembrane transport, L-proline import across plasma membrane, tryptophan transport, proline transport, L-alanine transport, L-alanine transport, amino acid transmembrane transport, 362 303 513 298 309 465 271 295 323 ENSG00000180776 chr13 21372573 21459370 - ZDHHC20 protein_coding 253832 GO:0048471, GO:0043231, GO:0030173, GO:0016020, GO:0005886, GO:0005794, GO:0005783, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, integral component of Golgi membrane, membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, GO:0019706, GO:0019706, GO:0016409, GO:0008270, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, zinc ion binding, GO:0018345, GO:0018230, GO:0018230, GO:0006612, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 535 478 1008 470 462 896 403 336 551 ENSG00000180777 chr18 14728272 14852738 + ANKRD30B protein_coding 374860 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000180785 chr11 4643420 4655488 + OR51E1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 143503 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 2 0 0 0 0 0 0 ENSG00000180787 chr17 5078248 5096374 + ZFP3 protein_coding 124961 GO:0005575, GO:0000785, cellular_component, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0000981, GO:0000977, metal ion binding, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 2 5 12 21 13 33 11 9 14 ENSG00000180801 chr4 113900284 113979727 - ARSJ protein_coding Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]. 79642 GO:0015629, GO:0005788, GO:0005576, actin cytoskeleton, endoplasmic reticulum lumen, extracellular region, GO:0046872, GO:0004065, metal ion binding, arylsulfatase activity, 0 0 1 0 0 0 0 0 0 ENSG00000180803 chr13 25863250 25863667 - AL157366.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180806 chr12 53994895 54003337 + HOXC9 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]. 3225 GO:0016235, GO:0005654, GO:0005634, GO:0000785, aggresome, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048704, GO:0009954, GO:0009952, GO:0006357, GO:0006351, embryonic skeletal system morphogenesis, proximal/distal pattern formation, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000180815 chrX 19360056 19515261 - MAP3K15 protein_coding The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010]. 389840 GO:0046872, GO:0005524, GO:0004709, GO:0004672, metal ion binding, ATP binding, MAP kinase kinase kinase activity, protein kinase activity, GO:0033554, GO:0000186, GO:0000165, cellular response to stress, activation of MAPKK activity, MAPK cascade, 99 161 70 78 254 76 91 128 80 ENSG00000180817 chr10 70202830 70233911 - PPA1 protein_coding The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008]. 5464 GO:0070062, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytosol, cytoplasm, GO:0004427, GO:0000287, inorganic diphosphatase activity, magnesium ion binding, GO:0071344, GO:0006796, GO:0006418, diphosphate metabolic process, phosphate-containing compound metabolic process, tRNA aminoacylation for protein translation, 40 18 57 86 37 102 106 41 73 ENSG00000180818 chr12 53985065 53990279 + HOXC10 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008]. 3226 GO:0016604, GO:0005654, GO:0005634, GO:0000785, nuclear body, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0120163, GO:0050905, GO:0045944, GO:0030326, GO:0021520, GO:0009954, GO:0008284, GO:0006357, GO:0001501, negative regulation of cold-induced thermogenesis, neuromuscular process, positive regulation of transcription by RNA polymerase II, embryonic limb morphogenesis, spinal cord motor neuron cell fate specification, proximal/distal pattern formation, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000180822 chr6 3231403 3303373 + PSMG4 protein_coding 389362 GO:0032991, protein-containing complex, GO:0044877, protein-containing complex binding, GO:0043248, proteasome assembly, 10 15 25 36 15 43 34 21 23 ENSG00000180828 chr8 64580367 64583628 + BHLHE22 protein_coding This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]. 27319 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046983, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030182, GO:0006357, neuron differentiation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000180834 chr3 183815876 183825594 - MAP6D1 protein_coding This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq, Oct 2008]. 79929 GO:0005874, GO:0005801, GO:0005798, microtubule, cis-Golgi network, Golgi-associated vesicle, GO:0008017, GO:0005516, microtubule binding, calmodulin binding, GO:0070507, GO:0030705, GO:0018009, GO:0007026, GO:0000226, regulation of microtubule cytoskeleton organization, cytoskeleton-dependent intracellular transport, N-terminal peptidyl-L-cysteine N-palmitoylation, negative regulation of microtubule depolymerization, microtubule cytoskeleton organization, 2 0 1 0 3 0 3 1 3 ENSG00000180846 chr19 1952531 1954586 - CSNK1G2-AS1 antisense 255193 62 72 108 38 95 90 73 50 102 ENSG00000180855 chr19 12429707 12441112 - ZNF443 protein_coding Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]. 10224 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006915, GO:0006357, apoptotic process, regulation of transcription by RNA polymerase II, 7 5 9 1 3 18 3 2 5 ENSG00000180861 chr12 13371089 13387167 - LINC01559 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000180867 chr1 147172744 147179622 + PDIA3P1 transcribed_processed_pseudogene 44 52 84 62 35 56 50 40 78 ENSG00000180869 chr1 84628230 84635020 - LINC01555 lincRNA 439927 0 0 0 0 0 0 0 0 0 ENSG00000180871 chr2 218125289 218137253 + CXCR2 protein_coding The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]. 3579 GO:0072686, GO:0042629, GO:0030667, GO:0016020, GO:0015630, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005886, GO:0005654, mitotic spindle, mast cell granule, secretory granule membrane, membrane, microtubule cytoskeleton, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0019959, GO:0019957, GO:0016494, GO:0016493, GO:0005515, GO:0004930, GO:0004918, interleukin-8 binding, C-C chemokine binding, C-X-C chemokine receptor activity, C-C chemokine receptor activity, protein binding, G protein-coupled receptor activity, interleukin-8 receptor activity, GO:0090023, GO:0072173, GO:0070098, GO:0060326, GO:0045766, GO:0043312, GO:0043117, GO:0042119, GO:0038112, GO:0033030, GO:0031623, GO:0030901, GO:0030593, GO:0030593, GO:0019722, GO:0010666, GO:0008284, GO:0007204, GO:0007200, GO:0007186, GO:0007166, GO:0007165, GO:0006968, GO:0006955, GO:0006954, GO:0006935, GO:0002438, GO:0002407, positive regulation of neutrophil chemotaxis, metanephric tubule morphogenesis, chemokine-mediated signaling pathway, cell chemotaxis, positive regulation of angiogenesis, neutrophil degranulation, positive regulation of vascular permeability, neutrophil activation, interleukin-8-mediated signaling pathway, negative regulation of neutrophil apoptotic process, receptor internalization, midbrain development, neutrophil chemotaxis, neutrophil chemotaxis, calcium-mediated signaling, positive regulation of cardiac muscle cell apoptotic process, positive regulation of cell population proliferation, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, cellular defense response, immune response, inflammatory response, chemotaxis, acute inflammatory response to antigenic stimulus, dendritic cell chemotaxis, 25112 22709 23715 3233 11402 6320 6350 12071 7399 ENSG00000180872 chr6 50043575 50048651 - DEFB112 protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]. 245915 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000180875 chr1 240489573 240612149 - GREM2 protein_coding This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008]. 64388 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048018, GO:0042802, GO:0036122, GO:0008201, GO:0005125, receptor ligand activity, identical protein binding, BMP binding, heparin binding, cytokine activity, GO:0060300, GO:0048263, GO:0038098, GO:0030509, GO:0019221, GO:0010172, GO:0009887, regulation of cytokine activity, determination of dorsal identity, sequestering of BMP from receptor via BMP binding, BMP signaling pathway, cytokine-mediated signaling pathway, embryonic body morphogenesis, animal organ morphogenesis, 1 0 1 4 0 1 0 2 0 ENSG00000180878 chr11 6205566 6211132 + C11orf42 protein_coding 160298 0 9 3 0 2 0 0 1 0 ENSG00000180879 chrX 153793516 153798505 + SSR4 protein_coding This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]. 6748 GO:0070062, GO:0016021, GO:0012505, GO:0005784, extracellular exosome, integral component of membrane, endomembrane system, Sec61 translocon complex, 149 127 160 211 164 212 192 143 229 ENSG00000180881 chr12 75275979 75390928 - CAPS2 protein_coding Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]. 84698 GO:0005509, calcium ion binding, 2 2 10 16 1 10 7 2 11 ENSG00000180884 chr19 34956354 34964049 - ZNF792 protein_coding 126375 GO:0005634, nucleus, GO:0046872, GO:0042802, GO:0005515, GO:0000981, GO:0000978, metal ion binding, identical protein binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 15 7 19 25 5 22 14 3 9 ENSG00000180891 chr17 57861243 57955323 - CUEDC1 protein_coding 404093 GO:0005515, protein binding, 357 379 500 301 489 580 357 363 445 ENSG00000180900 chr8 143790920 143815379 - SCRIB protein_coding This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 23513 GO:0099147, GO:0098978, GO:0070062, GO:0045211, GO:0045211, GO:0044291, GO:0042734, GO:0035748, GO:0034750, GO:0031252, GO:0030054, GO:0030054, GO:0030027, GO:0016323, GO:0014069, GO:0008328, GO:0005912, GO:0005912, GO:0005911, GO:0005886, GO:0005886, GO:0005654, GO:0001772, extrinsic component of postsynaptic density membrane, glutamatergic synapse, extracellular exosome, postsynaptic membrane, postsynaptic membrane, cell-cell contact zone, presynaptic membrane, myelin sheath abaxonal region, Scrib-APC-beta-catenin complex, cell leading edge, cell junction, cell junction, lamellipodium, basolateral plasma membrane, postsynaptic density, ionotropic glutamate receptor complex, adherens junction, adherens junction, cell-cell junction, plasma membrane, plasma membrane, nucleoplasm, immunological synapse, GO:0045296, GO:0005515, cadherin binding, protein binding, GO:0098968, GO:0098887, GO:0098609, GO:0098609, GO:0097120, GO:0090630, GO:0071896, GO:0060603, GO:0060561, GO:0060088, GO:0050918, GO:0048488, GO:0046007, GO:0045930, GO:0045197, GO:0043615, GO:0043113, GO:0043065, GO:0042060, GO:0039564, GO:0039563, GO:0035089, GO:0032729, GO:0030859, GO:0030683, GO:0021747, GO:0016477, GO:0016080, GO:0009790, GO:0008283, GO:0001921, GO:0001843, GO:0001768, neurotransmitter receptor transport postsynaptic membrane to endosome, neurotransmitter receptor transport, endosome to postsynaptic membrane, cell-cell adhesion, cell-cell adhesion, receptor localization to synapse, activation of GTPase activity, protein localization to adherens junction, mammary gland duct morphogenesis, apoptotic process involved in morphogenesis, auditory receptor cell stereocilium organization, positive chemotaxis, synaptic vesicle endocytosis, negative regulation of activated T cell proliferation, negative regulation of mitotic cell cycle, establishment or maintenance of epithelial cell apical/basal polarity, astrocyte cell migration, receptor clustering, positive regulation of apoptotic process, wound healing, suppression by virus of host STAT2 activity, suppression by virus of host STAT1 activity, establishment of apical/basal cell polarity, positive regulation of interferon-gamma production, polarized epithelial cell differentiation, mitigation of host immune response by virus, cochlear nucleus development, cell migration, synaptic vesicle targeting, embryo development, cell population proliferation, positive regulation of receptor recycling, neural tube closure, establishment of T cell polarity, 15 35 7 20 9 24 10 18 24 ENSG00000180901 chr17 75032575 75065889 + KCTD2 protein_coding 23510 GO:0031463, GO:0005737, Cul3-RING ubiquitin ligase complex, cytoplasm, GO:0097602, GO:0044877, cullin family protein binding, protein-containing complex binding, GO:0051260, GO:0043161, protein homooligomerization, proteasome-mediated ubiquitin-dependent protein catabolic process, 420 285 336 265 331 241 277 278 187 ENSG00000180902 chr2 241734579 241768816 + D2HGDH protein_coding This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]. 728294 GO:0005759, GO:0005739, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0071949, GO:0051990, GO:0051990, FAD binding, (R)-2-hydroxyglutarate dehydrogenase activity, (R)-2-hydroxyglutarate dehydrogenase activity, GO:0055114, GO:0051592, GO:0044267, GO:0032026, GO:0032025, GO:0010043, GO:0010042, GO:0006103, oxidation-reduction process, response to calcium ion, cellular protein metabolic process, response to magnesium ion, response to cobalt ion, response to zinc ion, response to manganese ion, 2-oxoglutarate metabolic process, 31 55 62 86 57 104 76 50 64 ENSG00000180909 chr11 6151641 6152549 - OR52B1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180910 chrY 8783310 8817382 - TTTY11 lincRNA 83866 0 0 0 0 0 0 0 0 0 ENSG00000180913 chr11 6128610 6129556 + OR56B3P unprocessed_pseudogene 0 1 0 0 0 0 0 0 3 ENSG00000180914 chr3 8750408 8769628 - OXTR protein_coding The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]. 5021 GO:0016324, GO:0005912, GO:0005902, GO:0005887, GO:0005886, apical plasma membrane, adherens junction, microvillus, integral component of plasma membrane, plasma membrane, GO:0042277, GO:0017046, GO:0005000, GO:0004990, GO:0004930, peptide binding, peptide hormone binding, vasopressin receptor activity, oxytocin receptor activity, G protein-coupled receptor activity, GO:0120162, GO:0070474, GO:0070371, GO:0060455, GO:0060406, GO:0060137, GO:0051968, GO:0051965, GO:0048565, GO:0045907, GO:0045777, GO:0044849, GO:0043434, GO:0042755, GO:0042713, GO:0042711, GO:0042493, GO:0042220, GO:0035176, GO:0034097, GO:0034059, GO:0032570, GO:0032355, GO:0032230, GO:0030431, GO:0021537, GO:0010701, GO:0007613, GO:0007595, GO:0007565, GO:0007507, GO:0007204, GO:0007186, GO:0007186, GO:0007166, GO:0006936, GO:0001992, GO:0001975, GO:0001967, positive regulation of cold-induced thermogenesis, positive regulation of uterine smooth muscle contraction, ERK1 and ERK2 cascade, negative regulation of gastric acid secretion, positive regulation of penile erection, maternal process involved in parturition, positive regulation of synaptic transmission, glutamatergic, positive regulation of synapse assembly, digestive tract development, positive regulation of vasoconstriction, positive regulation of blood pressure, estrous cycle, response to peptide hormone, eating behavior, sperm ejaculation, maternal behavior, response to drug, response to cocaine, social behavior, response to cytokine, response to anoxia, response to progesterone, response to estradiol, positive regulation of synaptic transmission, GABAergic, sleep, telencephalon development, positive regulation of norepinephrine secretion, memory, lactation, female pregnancy, heart development, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, muscle contraction, regulation of systemic arterial blood pressure by vasopressin, response to amphetamine, suckling behavior, 0 0 0 4 0 0 0 0 3 ENSG00000180917 chr16 71281389 71289715 - CMTR2 protein_coding 55783 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0004483, GO:0004483, mRNA (nucleoside-2'-O-)-methyltransferase activity, mRNA (nucleoside-2'-O-)-methyltransferase activity, GO:0097310, GO:0097310, GO:0097309, GO:0006370, GO:0006370, cap2 mRNA methylation, cap2 mRNA methylation, cap1 mRNA methylation, 7-methylguanosine mRNA capping, 7-methylguanosine mRNA capping, 29 22 53 62 28 89 35 15 47 ENSG00000180919 chr11 6107684 6108835 + OR56B4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 196335 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 2 0 0 1 0 0 0 0 ENSG00000180921 chr8 143723933 143733801 - FAM83H protein_coding The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]. 286077 GO:0045095, GO:0045095, GO:0005737, keratin filament, keratin filament, cytoplasm, GO:1990254, GO:1990254, GO:0019901, GO:0019901, GO:0005515, keratin filament binding, keratin filament binding, protein kinase binding, protein kinase binding, protein binding, GO:0045104, GO:0045104, GO:0044380, GO:0044380, GO:0031214, GO:0030335, GO:0030335, GO:0007165, intermediate filament cytoskeleton organization, intermediate filament cytoskeleton organization, protein localization to cytoskeleton, protein localization to cytoskeleton, biomineral tissue development, positive regulation of cell migration, positive regulation of cell migration, signal transduction, 0 0 0 0 1 0 0 0 0 ENSG00000180926 chr19 9261015 9261716 - OR7E18P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000180929 chr3 51955314 51957504 + GPR62 protein_coding 118442 GO:0043235, GO:0043235, GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005768, GO:0005768, receptor complex, receptor complex, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, endosome, endosome, GO:1990763, GO:0042802, GO:0005515, GO:0004930, GO:0004930, arrestin family protein binding, identical protein binding, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0048016, GO:0043950, GO:0007186, GO:0007186, inositol phosphate-mediated signaling, positive regulation of cAMP-mediated signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180934 chr11 6019336 6034338 - OR56A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 120796 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 2 1 1 2 0 1 1 0 ENSG00000180938 chr8 124973298 124979389 + ZNF572 protein_coding 137209 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0042802, GO:0005515, GO:0001227, GO:0000978, metal ion binding, identical protein binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 1 2 2 0 2 1 0 0 ENSG00000180953 chr15 79898840 79923702 - ST20 protein_coding 264 172 441 142 305 259 164 141 236 ENSG00000180957 chr22 27851669 27920134 - PITPNB protein_coding This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 23760 GO:0005794, GO:0005789, GO:0005789, GO:0005737, GO:0000139, GO:0000139, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, cytoplasm, Golgi membrane, Golgi membrane, GO:0140338, GO:0120019, GO:0035091, GO:0035091, GO:0031210, GO:0031210, GO:0008526, GO:0008526, GO:0008526, GO:0008525, GO:0008525, GO:0005515, sphingomyelin transfer activity, phosphatidylcholine transfer activity, phosphatidylinositol binding, phosphatidylinositol binding, phosphatidylcholine binding, phosphatidylcholine binding, phosphatidylinositol transfer activity, phosphatidylinositol transfer activity, phosphatidylinositol transfer activity, phosphatidylcholine transporter activity, phosphatidylcholine transporter activity, protein binding, GO:0120009, GO:0015914, GO:0015914, GO:0006997, GO:0006890, GO:0006890, GO:0006629, intermembrane lipid transfer, phospholipid transport, phospholipid transport, nucleus organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, lipid metabolic process, 422 497 538 344 400 384 342 279 360 ENSG00000180964 chrX 103252995 103255203 - TCEAL8 protein_coding This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]. 90843 GO:0005634, nucleus, GO:0050699, GO:0005515, WW domain binding, protein binding, 5 5 14 35 16 27 30 2 10 ENSG00000180974 chr11 5880629 5887079 + OR52E4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390081 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000180979 chr15 42537820 42548802 - LRRC57 protein_coding 255252 GO:0070062, GO:0016020, extracellular exosome, membrane, 134 149 193 123 102 173 116 102 123 ENSG00000180988 chr11 5820314 5821348 + OR52N2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390077 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 1 0 0 0 0 0 0 0 ENSG00000180992 chr6 44113454 44127457 - MRPL14 protein_coding This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17. [provided by RefSeq, Jan 2016]. 64928 GO:0005762, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 14 17 30 24 2 14 22 7 15 ENSG00000180998 chr14 52553148 52637713 + GPR137C protein_coding 283554 GO:0016021, GO:0005765, GO:0005765, integral component of membrane, lysosomal membrane, lysosomal membrane, GO:1904263, positive regulation of TORC1 signaling, 1 0 0 4 0 7 3 0 0 ENSG00000180999 chr1 172420688 172468831 + C1orf105 protein_coding 92346 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000181001 chr11 5786471 5791265 - OR52N1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79473 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181004 chr4 122732702 122744943 + BBS12 protein_coding The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]. 166379 GO:0005929, cilium, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0051131, GO:0051131, GO:0045599, GO:0045494, GO:0042755, GO:0042073, chaperone-mediated protein complex assembly, chaperone-mediated protein complex assembly, negative regulation of fat cell differentiation, photoreceptor cell maintenance, eating behavior, intraciliary transport, 4 6 10 1 9 7 6 4 2 ENSG00000181007 chr19 36383120 36418656 - ZFP82 protein_coding 284406 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 5 13 11 3 7 10 1 12 ENSG00000181009 chr11 5776165 5783355 - OR52N5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390075 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 1 ENSG00000181013 chr17 58541587 58544368 - C17orf47 protein_coding 1 4 0 0 0 0 0 0 0 ENSG00000181016 chr7 112480853 112491062 + LSMEM1 protein_coding 286006 GO:0016021, GO:0005829, integral component of membrane, cytosol, GO:0005515, protein binding, 236 300 254 227 373 273 193 254 234 ENSG00000181017 chr11 5761153 5767465 + OR56B2P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181019 chr16 69706996 69726951 - NQO1 protein_coding This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 1728 GO:0045202, GO:0043025, GO:0030425, GO:0005829, GO:0005829, GO:0005829, GO:0005737, synapse, neuronal cell body, dendrite, cytosol, cytosol, cytosol, cytoplasm, GO:0042802, GO:0005515, GO:0004784, GO:0004128, GO:0003955, GO:0003723, identical protein binding, protein binding, superoxide dismutase activity, cytochrome-b5 reductase activity, acting on NAD(P)H, NAD(P)H dehydrogenase (quinone) activity, RNA binding, GO:1904880, GO:1901698, GO:0071248, GO:0070301, GO:0055114, GO:0051602, GO:0045471, GO:0045454, GO:0043525, GO:0043086, GO:0043066, GO:0042493, GO:0032355, GO:0019430, GO:0009636, GO:0007584, GO:0007568, GO:0007271, GO:0006979, GO:0006809, GO:0006805, GO:0006521, response to hydrogen sulfide, response to nitrogen compound, cellular response to metal ion, cellular response to hydrogen peroxide, oxidation-reduction process, response to electrical stimulus, response to ethanol, cell redox homeostasis, positive regulation of neuron apoptotic process, negative regulation of catalytic activity, negative regulation of apoptotic process, response to drug, response to estradiol, removal of superoxide radicals, response to toxic substance, response to nutrient, aging, synaptic transmission, cholinergic, response to oxidative stress, nitric oxide biosynthetic process, xenobiotic metabolic process, regulation of cellular amino acid metabolic process, 9 6 15 11 13 22 2 11 7 ENSG00000181023 chr11 5736448 5738522 + OR56B1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 387748 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181026 chr15 88621296 88632282 + AEN protein_coding 64782 GO:0031965, GO:0005730, GO:0005654, GO:0005634, nuclear membrane, nucleolus, nucleoplasm, nucleus, GO:0005515, GO:0004527, GO:0004527, GO:0003676, protein binding, exonuclease activity, exonuclease activity, nucleic acid binding, GO:0090305, GO:0042771, GO:0042771, GO:0010212, nucleic acid phosphodiester bond hydrolysis, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, response to ionizing radiation, 19 15 56 84 26 101 91 36 63 ENSG00000181027 chr19 46746046 46776988 + FKRP protein_coding This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]. 79147 GO:0042383, GO:0016021, GO:0005829, GO:0005794, GO:0005794, GO:0005791, GO:0005654, GO:0005615, GO:0000139, sarcolemma, integral component of membrane, cytosol, Golgi apparatus, Golgi apparatus, rough endoplasmic reticulum, nucleoplasm, extracellular space, Golgi membrane, GO:0016740, GO:0002162, transferase activity, dystroglycan binding, GO:0035269, GO:0035269, GO:0016485, protein O-linked mannosylation, protein O-linked mannosylation, protein processing, 123 84 134 124 122 108 96 85 56 ENSG00000181029 chr19 7680843 7687703 + TRAPPC5 protein_coding 126003 GO:1990072, GO:1990071, GO:1990070, GO:0030008, GO:0005829, GO:0005783, GO:0000139, TRAPPIII protein complex, TRAPPII protein complex, TRAPPI protein complex, TRAPP complex, cytosol, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:0048208, GO:0006888, COPII vesicle coating, endoplasmic reticulum to Golgi vesicle-mediated transport, 19 31 38 16 26 29 43 34 21 ENSG00000181031 chr17 212389 386254 - RPH3AL protein_coding The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]. 9501 GO:0030667, GO:0030658, GO:0005737, secretory granule membrane, transport vesicle membrane, cytoplasm, GO:0046872, GO:0031267, GO:0030274, GO:0008092, GO:0005515, metal ion binding, small GTPase binding, LIM domain binding, cytoskeletal protein binding, protein binding, GO:0045744, GO:0042593, GO:0042493, GO:0032024, GO:0017158, GO:0006887, GO:0006886, negative regulation of G protein-coupled receptor signaling pathway, glucose homeostasis, response to drug, positive regulation of insulin secretion, regulation of calcium ion-dependent exocytosis, exocytosis, intracellular protein transport, 3 2 0 4 2 2 7 2 1 ENSG00000181035 chr19 19063999 19112888 + SLC25A42 protein_coding This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]. 284439 GO:0016021, GO:0005743, GO:0005739, GO:0005634, integral component of membrane, mitochondrial inner membrane, mitochondrion, nucleus, GO:0080122, GO:0043262, GO:0015228, GO:0015217, GO:0005515, GO:0005347, AMP transmembrane transporter activity, adenosine-diphosphatase activity, coenzyme A transmembrane transporter activity, ADP transmembrane transporter activity, protein binding, ATP transmembrane transporter activity, GO:0080121, GO:0035349, GO:0015867, GO:0015866, AMP transport, coenzyme A transmembrane transport, ATP transport, ADP transport, 12 11 29 53 22 84 39 25 29 ENSG00000181036 chr1 159800511 159816251 + FCRL6 protein_coding 343413 GO:0009897, GO:0005887, GO:0005886, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042289, GO:0019903, GO:0019902, GO:0005515, GO:0004888, MHC class II protein binding, protein phosphatase binding, phosphatase binding, protein binding, transmembrane signaling receptor activity, GO:0007166, cell surface receptor signaling pathway, 7 13 69 37 28 172 43 40 143 ENSG00000181038 chr17 76726830 76733936 + METTL23 protein_coding The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 124512 GO:0032991, GO:0016021, GO:0005737, GO:0005737, GO:0005634, GO:0005634, protein-containing complex, integral component of membrane, cytoplasm, cytoplasm, nucleus, nucleus, GO:0031072, GO:0008168, GO:0008134, GO:0005515, heat shock protein binding, methyltransferase activity, transcription factor binding, protein binding, GO:0050890, GO:0045944, GO:0032259, cognition, positive regulation of transcription by RNA polymerase II, methylation, 127 101 136 78 104 137 113 83 100 ENSG00000181045 chr17 80219699 80253500 + SLC26A11 protein_coding This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. 284129 GO:0070062, GO:0043231, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005783, GO:0005765, GO:0005654, extracellular exosome, intracellular membrane-bounded organelle, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, lysosomal membrane, nucleoplasm, GO:0015301, GO:0015116, GO:0015116, GO:0008509, GO:0008271, GO:0005515, anion:anion antiporter activity, sulfate transmembrane transporter activity, sulfate transmembrane transporter activity, anion transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, protein binding, GO:1902358, GO:0008272, GO:0006811, sulfate transmembrane transport, sulfate transport, ion transport, 25 39 104 261 127 375 226 91 173 ENSG00000181061 chr3 42784298 42804531 - HIGD1A protein_coding 25994 GO:0070469, GO:0032991, GO:0016021, GO:0005743, GO:0005739, GO:0005739, GO:0005654, respirasome, protein-containing complex, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0097250, GO:0090201, GO:0071902, GO:0061418, GO:0055114, GO:0043066, GO:0043066, GO:0042149, mitochondrial respirasome assembly, negative regulation of release of cytochrome c from mitochondria, positive regulation of protein serine/threonine kinase activity, regulation of transcription from RNA polymerase II promoter in response to hypoxia, oxidation-reduction process, negative regulation of apoptotic process, negative regulation of apoptotic process, cellular response to glucose starvation, 244 183 213 72 125 68 65 123 96 ENSG00000181072 chr7 136868669 137020255 + CHRM2 protein_coding The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]. 1129 GO:0099056, GO:0099055, GO:0098978, GO:0045202, GO:0043679, GO:0043025, GO:0032280, GO:0032279, GO:0030665, GO:0030425, GO:0016021, GO:0005887, GO:0005887, GO:0005886, GO:0005886, integral component of presynaptic membrane, integral component of postsynaptic membrane, glutamatergic synapse, synapse, axon terminus, neuronal cell body, symmetric synapse, asymmetric synapse, clathrin-coated vesicle membrane, dendrite, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1990763, GO:0030594, GO:0016907, GO:0016907, GO:0004993, arrestin family protein binding, neurotransmitter receptor activity, G protein-coupled acetylcholine receptor activity, G protein-coupled acetylcholine receptor activity, G protein-coupled serotonin receptor activity, GO:0098664, GO:0061024, GO:0009615, GO:0008016, GO:0007399, GO:0007268, GO:0007213, GO:0007207, GO:0007197, GO:0007188, GO:0007187, GO:0007186, GO:0006940, G protein-coupled serotonin receptor signaling pathway, membrane organization, response to virus, regulation of heart contraction, nervous system development, chemical synaptic transmission, G protein-coupled acetylcholine receptor signaling pathway, phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, regulation of smooth muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000181074 chr11 5754243 5755905 + OR52N4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390072 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 1 3 0 0 ENSG00000181085 chr8 143716259 143722458 + MAPK15 protein_coding 225689 GO:0072687, GO:0036064, GO:0031410, GO:0005930, GO:0005923, GO:0005911, GO:0005814, GO:0005794, GO:0005776, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005576, meiotic spindle, ciliary basal body, cytoplasmic vesicle, axoneme, bicellular tight junction, cell-cell junction, centriole, Golgi apparatus, autophagosome, cytoplasm, cytoplasm, nucleus, nucleus, extracellular region, GO:0017124, GO:0016301, GO:0005524, GO:0005515, GO:0004707, GO:0004707, GO:0004672, GO:0003682, SH3 domain binding, kinase activity, ATP binding, protein binding, MAP kinase activity, MAP kinase activity, protein kinase activity, chromatin binding, GO:1905832, GO:1905188, GO:1904491, GO:1904355, GO:1904355, GO:1902017, GO:1902017, GO:0090494, GO:0051973, GO:0051973, GO:0046777, GO:0035556, GO:0032212, GO:0032212, GO:0030336, GO:0010506, GO:0010468, GO:0008284, GO:0008284, GO:0007029, GO:0006974, GO:0003400, GO:0000165, positive regulation of spindle assembly, positive regulation of metaphase/anaphase transition of meiosis I, protein localization to ciliary transition zone, positive regulation of telomere capping, positive regulation of telomere capping, regulation of cilium assembly, regulation of cilium assembly, dopamine uptake, positive regulation of telomerase activity, positive regulation of telomerase activity, protein autophosphorylation, intracellular signal transduction, positive regulation of telomere maintenance via telomerase, positive regulation of telomere maintenance via telomerase, negative regulation of cell migration, regulation of autophagy, regulation of gene expression, positive regulation of cell population proliferation, positive regulation of cell population proliferation, endoplasmic reticulum organization, cellular response to DNA damage stimulus, regulation of COPII vesicle coating, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000181090 chr9 137618963 137870016 + EHMT1 protein_coding The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]. 79813 GO:0016604, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, nuclear body, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0070742, GO:0046976, GO:0046974, GO:0018024, GO:0016279, GO:0008270, GO:0008168, GO:0005515, GO:0002039, GO:0001226, C2H2 zinc finger domain binding, histone methyltransferase activity (H3-K27 specific), histone methyltransferase activity (H3-K9 specific), histone-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, zinc ion binding, methyltransferase activity, protein binding, p53 binding, RNA polymerase II transcription corepressor binding, GO:1901796, GO:0120162, GO:0070734, GO:0070317, GO:0051567, GO:0045995, GO:0045892, GO:0018027, GO:0018026, GO:0016571, GO:0006325, GO:0006306, GO:0000122, regulation of signal transduction by p53 class mediator, positive regulation of cold-induced thermogenesis, histone H3-K27 methylation, negative regulation of G0 to G1 transition, histone H3-K9 methylation, regulation of embryonic development, negative regulation of transcription, DNA-templated, peptidyl-lysine dimethylation, peptidyl-lysine monomethylation, histone methylation, chromatin organization, DNA methylation, negative regulation of transcription by RNA polymerase II, 445 687 505 464 708 403 461 528 378 ENSG00000181092 chr3 186842690 186858463 + ADIPOQ protein_coding This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]. 9370 GO:0062023, GO:0009986, GO:0005783, GO:0005615, GO:0005581, GO:0005576, GO:0005576, collagen-containing extracellular matrix, cell surface, endoplasmic reticulum, extracellular space, collagen trimer, extracellular region, extracellular region, GO:0042803, GO:0042802, GO:0033691, GO:0005515, GO:0005201, GO:0005179, GO:0005125, GO:0005102, protein homodimerization activity, identical protein binding, sialic acid binding, protein binding, extracellular matrix structural constituent, hormone activity, cytokine activity, signaling receptor binding, GO:2000590, GO:2000584, GO:2000534, GO:2000481, GO:2000478, GO:2000467, GO:2000279, GO:1904753, GO:1904706, GO:1900121, GO:0120163, GO:0120162, GO:0090317, GO:0072659, GO:0071872, GO:0071639, GO:0071320, GO:0070994, GO:0070543, GO:0070373, GO:0051384, GO:0050873, GO:0050805, GO:0050765, GO:0050731, GO:0050728, GO:0050728, GO:0046888, GO:0046326, GO:0045923, GO:0045892, GO:0045776, GO:0045721, GO:0045650, GO:0045599, GO:0045471, GO:0043407, GO:0043124, GO:0043123, GO:0042593, GO:0042304, GO:0035690, GO:0034612, GO:0034383, GO:0034115, GO:0033034, GO:0032869, GO:0032757, GO:0032720, GO:0032270, GO:0031953, GO:0030853, GO:0030336, GO:0019395, GO:0014823, GO:0010906, GO:0010875, GO:0010804, GO:0010745, GO:0010739, GO:0010642, GO:0010467, GO:0009967, GO:0009749, GO:0009744, GO:0009617, GO:0007623, GO:0007584, GO:0007165, GO:0006635, GO:0006091, GO:0006006, GO:0001934, GO:0001666, negative regulation of metanephric mesenchymal cell migration, negative regulation of platelet-derived growth factor receptor-alpha signaling pathway, positive regulation of renal albumin absorption, positive regulation of cAMP-dependent protein kinase activity, positive regulation of metanephric glomerular visceral epithelial cell development, positive regulation of glycogen (starch) synthase activity, negative regulation of DNA biosynthetic process, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of receptor binding, negative regulation of cold-induced thermogenesis, positive regulation of cold-induced thermogenesis, negative regulation of intracellular protein transport, protein localization to plasma membrane, cellular response to epinephrine stimulus, positive regulation of monocyte chemotactic protein-1 production, cellular response to cAMP, detection of oxidative stress, response to linoleic acid, negative regulation of ERK1 and ERK2 cascade, response to glucocorticoid, brown fat cell differentiation, negative regulation of synaptic transmission, negative regulation of phagocytosis, positive regulation of peptidyl-tyrosine phosphorylation, negative regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of hormone secretion, positive regulation of glucose import, positive regulation of fatty acid metabolic process, negative regulation of transcription, DNA-templated, negative regulation of blood pressure, negative regulation of gluconeogenesis, negative regulation of macrophage differentiation, negative regulation of fat cell differentiation, response to ethanol, negative regulation of MAP kinase activity, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, glucose homeostasis, regulation of fatty acid biosynthetic process, cellular response to drug, response to tumor necrosis factor, low-density lipoprotein particle clearance, negative regulation of heterotypic cell-cell adhesion, positive regulation of myeloid cell apoptotic process, cellular response to insulin stimulus, positive regulation of interleukin-8 production, negative regulation of tumor necrosis factor production, positive regulation of cellular protein metabolic process, negative regulation of protein autophosphorylation, negative regulation of granulocyte differentiation, negative regulation of cell migration, fatty acid oxidation, response to activity, regulation of glucose metabolic process, positive regulation of cholesterol efflux, negative regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of macrophage derived foam cell differentiation, positive regulation of protein kinase A signaling, negative regulation of platelet-derived growth factor receptor signaling pathway, gene expression, positive regulation of signal transduction, response to glucose, response to sucrose, response to bacterium, circadian rhythm, response to nutrient, signal transduction, fatty acid beta-oxidation, generation of precursor metabolites and energy, glucose metabolic process, positive regulation of protein phosphorylation, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000181097 chr8 143696154 143698413 + BREA2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000181101 chr1 175044626 175045648 - SDCCAG3P2 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000181104 chr5 76716043 76735781 + F2R protein_coding Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 2149 GO:0045211, GO:0031594, GO:0031094, GO:0009986, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005770, GO:0005769, GO:0005576, postsynaptic membrane, neuromuscular junction, platelet dense tubular network, cell surface, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, late endosome, early endosome, extracellular region, GO:0031681, GO:0015057, GO:0015057, GO:0005515, GO:0005102, GO:0004930, GO:0004930, GO:0004930, GO:0001965, G-protein beta-subunit binding, thrombin-activated receptor activity, thrombin-activated receptor activity, protein binding, signaling receptor binding, G protein-coupled receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, G-protein alpha-subunit binding, GO:1900134, GO:0099553, GO:0070493, GO:0070374, GO:0060155, GO:0051930, GO:0051928, GO:0051482, GO:0051482, GO:0051281, GO:0051209, GO:0048873, GO:0046427, GO:0045987, GO:0045907, GO:0045893, GO:0045217, GO:0043547, GO:0043524, GO:0043410, GO:0043280, GO:0043123, GO:0035025, GO:0035025, GO:0032967, GO:0032757, GO:0032755, GO:0032651, GO:0032496, GO:0030335, GO:0030194, GO:0030194, GO:0030193, GO:0030168, GO:0030168, GO:0014068, GO:0009653, GO:0009611, GO:0008285, GO:0008284, GO:0007596, GO:0007529, GO:0007205, GO:0007204, GO:0007200, GO:0007186, GO:0007186, GO:0006954, GO:0006919, GO:0003105, GO:0002248, GO:0000186, negative regulation of renin secretion into blood stream, trans-synaptic signaling by endocannabinoid, modulating synaptic transmission, thrombin-activated receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, platelet dense granule organization, regulation of sensory perception of pain, positive regulation of calcium ion transport, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, homeostasis of number of cells within a tissue, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of smooth muscle contraction, positive regulation of vasoconstriction, positive regulation of transcription, DNA-templated, cell-cell junction maintenance, positive regulation of GTPase activity, negative regulation of neuron apoptotic process, positive regulation of MAPK cascade, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of Rho protein signal transduction, positive regulation of Rho protein signal transduction, positive regulation of collagen biosynthetic process, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, regulation of interleukin-1 beta production, response to lipopolysaccharide, positive regulation of cell migration, positive regulation of blood coagulation, positive regulation of blood coagulation, regulation of blood coagulation, platelet activation, platelet activation, positive regulation of phosphatidylinositol 3-kinase signaling, anatomical structure morphogenesis, response to wounding, negative regulation of cell population proliferation, positive regulation of cell population proliferation, blood coagulation, establishment of synaptic specificity at neuromuscular junction, protein kinase C-activating G protein-coupled receptor signaling pathway, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of glomerular filtration, connective tissue replacement involved in inflammatory response wound healing, activation of MAPKK activity, 49 18 121 70 49 149 58 40 129 ENSG00000181109 chr11 5726502 5727464 + OR52P1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181123 chr22 30475364 30492804 + AC004832.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000181126 chr6 29790954 29797811 + HLA-V transcribed_unprocessed_pseudogene 352962 0 0 0 0 20 0 0 3 0 ENSG00000181135 chr8 143684452 143713898 + ZNF707 protein_coding 286075 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 1 0 1 1 0 5 0 2 ENSG00000181143 chr19 8848844 8981342 - MUC16 protein_coding This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]. 94025 GO:0070062, GO:0031982, GO:0019898, GO:0016021, GO:0005886, GO:0005796, extracellular exosome, vesicle, extrinsic component of membrane, integral component of membrane, plasma membrane, Golgi lumen, GO:0005515, protein binding, GO:0016266, GO:0007155, GO:0002223, O-glycan processing, cell adhesion, stimulatory C-type lectin receptor signaling pathway, 0 0 1 1 0 3 3 0 0 ENSG00000181163 chr5 171387116 171411137 + NPM1 protein_coding The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]. 4869 GO:1990904, GO:1990904, GO:0032993, GO:0032991, GO:0031616, GO:0016020, GO:0005925, GO:0005829, GO:0005813, GO:0005813, GO:0005737, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, protein-DNA complex, protein-containing complex, spindle pole centrosome, membrane, focal adhesion, cytosol, centrosome, centrosome, cytoplasm, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0051082, GO:0051059, GO:0043024, GO:0043023, GO:0042803, GO:0042393, GO:0042393, GO:0033613, GO:0030957, GO:0019901, GO:0008134, GO:0005515, GO:0004860, GO:0003723, GO:0003723, GO:0003723, GO:0003713, GO:0003682, GO:0001046, unfolded protein binding, NF-kappaB binding, ribosomal small subunit binding, ribosomal large subunit binding, protein homodimerization activity, histone binding, histone binding, activating transcription factor binding, Tat protein binding, protein kinase binding, transcription factor binding, protein binding, protein kinase inhibitor activity, RNA binding, RNA binding, RNA binding, transcription coactivator activity, chromatin binding, core promoter sequence-specific DNA binding, GO:1902751, GO:1902629, GO:0060735, GO:0060699, GO:0051092, GO:0046599, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045727, GO:0044387, GO:0043066, GO:0043066, GO:0042274, GO:0042273, GO:0042255, GO:0034644, GO:0034080, GO:0032071, GO:0016032, GO:0010826, GO:0010824, GO:0008285, GO:0008284, GO:0008104, GO:0007569, GO:0007165, GO:0007098, GO:0006913, GO:0006913, GO:0006886, GO:0006407, GO:0006357, GO:0006338, GO:0006334, GO:0006281, GO:0000056, GO:0000055, positive regulation of cell cycle G2/M phase transition, regulation of mRNA stability involved in cellular response to UV, regulation of eIF2 alpha phosphorylation by dsRNA, regulation of endoribonuclease activity, positive regulation of NF-kappaB transcription factor activity, regulation of centriole replication, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of translation, negative regulation of protein kinase activity by regulation of protein phosphorylation, negative regulation of apoptotic process, negative regulation of apoptotic process, ribosomal small subunit biogenesis, ribosomal large subunit biogenesis, ribosome assembly, cellular response to UV, CENP-A containing nucleosome assembly, regulation of endodeoxyribonuclease activity, viral process, negative regulation of centrosome duplication, regulation of centrosome duplication, negative regulation of cell population proliferation, positive regulation of cell population proliferation, protein localization, cell aging, signal transduction, centrosome cycle, nucleocytoplasmic transport, nucleocytoplasmic transport, intracellular protein transport, rRNA export from nucleus, regulation of transcription by RNA polymerase II, chromatin remodeling, nucleosome assembly, DNA repair, ribosomal small subunit export from nucleus, ribosomal large subunit export from nucleus, 362 226 531 1356 657 1463 1104 542 923 ENSG00000181171 chr8 123984138 124040782 - FER1L6-AS1 antisense 439941 0 0 0 0 0 0 0 0 0 ENSG00000181191 chrX 69160851 69165793 - PJA1 protein_coding This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 64219 GO:0005737, cytoplasm, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0030163, GO:0016567, protein catabolic process, protein ubiquitination, 9 10 21 41 8 21 54 9 18 ENSG00000181192 chr10 12068972 12123225 + DHTKD1 protein_coding This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]. 55526 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0030976, GO:0005515, GO:0004591, thiamine pyrophosphate binding, protein binding, oxoglutarate dehydrogenase (succinyl-transferring) activity, GO:0006099, GO:0006096, GO:0006091, GO:0002244, tricarboxylic acid cycle, glycolytic process, generation of precursor metabolites and energy, hematopoietic progenitor cell differentiation, 673 560 731 388 580 506 434 385 422 ENSG00000181195 chr8 56436674 56446734 - PENK protein_coding This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]. 5179 GO:0099013, GO:0070852, GO:0043679, GO:0043204, GO:0043025, GO:0034466, GO:0032280, GO:0030425, GO:0005886, GO:0005788, GO:0005576, neuronal dense core vesicle lumen, cell body fiber, axon terminus, perikaryon, neuronal cell body, chromaffin granule lumen, symmetric synapse, dendrite, plasma membrane, endoplasmic reticulum lumen, extracellular region, GO:0031628, GO:0005184, GO:0001515, opioid receptor binding, neuropeptide hormone activity, opioid peptide activity, GO:2000987, GO:0098586, GO:0071871, GO:0071560, GO:0071320, GO:0071305, GO:0051867, GO:0051592, GO:0045471, GO:0044267, GO:0043687, GO:0043278, GO:0035641, GO:0035094, GO:0034599, GO:0032496, GO:0032355, GO:0019233, GO:0014009, GO:0009636, GO:0009314, GO:0007600, GO:0007568, GO:0007268, GO:0007218, GO:0007186, GO:0007165, GO:0002118, GO:0001964, GO:0001666, GO:0001662, GO:0001649, positive regulation of behavioral fear response, cellular response to virus, response to epinephrine, cellular response to transforming growth factor beta stimulus, cellular response to cAMP, cellular response to vitamin D, general adaptation syndrome, behavioral process, response to calcium ion, response to ethanol, cellular protein metabolic process, post-translational protein modification, response to morphine, locomotory exploration behavior, response to nicotine, cellular response to oxidative stress, response to lipopolysaccharide, response to estradiol, sensory perception of pain, glial cell proliferation, response to toxic substance, response to radiation, sensory perception, aging, chemical synaptic transmission, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, aggressive behavior, startle response, response to hypoxia, behavioral fear response, osteoblast differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000181201 chr1 228464103 228464626 - HIST3H2BA unitary_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000181211 chr7 43117896 43163187 + HECW1-IT1 sense_intronic 100127950 0 0 0 0 0 0 0 0 0 ENSG00000181214 chr11 124224732 124225639 + OR8G2P unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26492 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 2 1 1 1 0 ENSG00000181215 chr4 5897373 6200555 - C4orf50 protein_coding 389197 2 0 11 11 0 32 1 0 4 ENSG00000181218 chr1 228456979 228457873 - HIST3H2A protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]. 92815 GO:0070062, GO:0000786, GO:0000785, extracellular exosome, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, DNA binding, GO:0070914, GO:0006342, GO:0006337, UV-damage excision repair, chromatin silencing, nucleosome disassembly, 3 12 28 8 5 12 12 4 17 ENSG00000181220 chr7 149472696 149497817 - ZNF746 protein_coding 155061 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:0046872, GO:0031625, GO:0005515, GO:0003700, GO:0003700, GO:0001227, GO:0001227, GO:0000978, GO:0000978, GO:0000976, metal ion binding, ubiquitin protein ligase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1901216, GO:1901216, GO:0045944, GO:0045892, GO:0006357, GO:0000122, positive regulation of neuron death, positive regulation of neuron death, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1554 1560 1725 1196 1727 1424 1304 1169 1239 ENSG00000181222 chr17 7484366 7514616 + POLR2A protein_coding This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]. 5430 GO:0005737, GO:0005730, GO:0005694, GO:0005665, GO:0005665, GO:0005654, GO:0005634, GO:0005634, GO:0000974, cytoplasm, nucleolus, chromosome, RNA polymerase II, core complex, RNA polymerase II, core complex, nucleoplasm, nucleus, nucleus, Prp19 complex, GO:1990841, GO:0046872, GO:0031625, GO:0019900, GO:0008022, GO:0005515, GO:0005515, GO:0003968, GO:0003899, GO:0003899, GO:0003723, GO:0003677, GO:0001055, promoter-specific chromatin binding, metal ion binding, ubiquitin protein ligase binding, kinase binding, protein C-terminus binding, protein binding, protein binding, RNA-directed 5'-3' RNA polymerase activity, DNA-directed 5'-3' RNA polymerase activity, DNA-directed 5'-3' RNA polymerase activity, RNA binding, DNA binding, RNA polymerase II activity, GO:0060964, GO:0050434, GO:0042795, GO:0035019, GO:0033120, GO:0016070, GO:0016032, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006355, GO:0006353, GO:0006351, GO:0006283, GO:0001172, GO:0000398, regulation of gene silencing by miRNA, positive regulation of viral transcription, snRNA transcription by RNA polymerase II, somatic stem cell population maintenance, positive regulation of RNA splicing, RNA metabolic process, viral process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, regulation of transcription, DNA-templated, DNA-templated transcription, termination, transcription, DNA-templated, transcription-coupled nucleotide-excision repair, transcription, RNA-templated, mRNA splicing, via spliceosome, 3282 4169 4076 1995 2901 2395 2311 2131 2103 ENSG00000181227 chr1 75743423 75744776 - DLSTP1 processed_pseudogene 2 1 3 0 1 0 3 6 1 ENSG00000181234 chr12 128267403 128707915 + TMEM132C protein_coding 92293 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 1 0 0 0 1 0 ENSG00000181240 chr19 6426037 6433779 - SLC25A41 protein_coding SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]. 284427 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0005347, ATP transmembrane transporter activity, GO:0055085, GO:0015867, transmembrane transport, ATP transport, 0 0 0 0 0 0 0 0 0 ENSG00000181260 chr3 179464346 179465328 + MTHFD2P7 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000181264 chr11 120325129 120333682 + TMEM136 protein_coding 219902 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000181273 chr11 56988872 56989867 + OR5AK2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390181 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181274 chr10 97332497 97334709 - FRAT2 protein_coding The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008]. 23401 GO:0005829, GO:0005737, GO:0005575, cytosol, cytoplasm, cellular_component, GO:0003674, molecular_function, GO:1904886, beta-catenin destruction complex disassembly, 8361 6362 6773 794 1998 1101 1029 1667 1057 ENSG00000181282 chr11 56970850 56972146 + OR5AK3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181284 chr17 7435443 7437679 + TMEM102 protein_coding 284114 GO:0032991, GO:0016021, GO:0009986, GO:0005886, GO:0005739, protein-containing complex, integral component of membrane, cell surface, plasma membrane, mitochondrion, GO:0005515, protein binding, GO:2000406, GO:1901028, GO:0050730, GO:0045785, GO:0034097, GO:0010820, GO:0007165, GO:0006915, positive regulation of T cell migration, regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, regulation of peptidyl-tyrosine phosphorylation, positive regulation of cell adhesion, response to cytokine, positive regulation of T cell chemotaxis, signal transduction, apoptotic process, 9 8 27 8 4 13 3 4 7 ENSG00000181291 chr17 34579487 34639318 + TMEM132E protein_coding 124842 GO:0044297, GO:0016021, cell body, integral component of membrane, GO:0003674, molecular_function, GO:0035677, posterior lateral line neuromast hair cell development, 0 0 0 0 0 0 0 0 0 ENSG00000181296 chr11 56775261 56776206 - OR5G1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181315 chr6 26634383 26659752 - ZNF322 protein_coding ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008]. 79692 GO:0005829, GO:0005813, GO:0005654, GO:0000785, cytosol, centrosome, nucleoplasm, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902459, GO:0006357, positive regulation of stem cell population maintenance, regulation of transcription by RNA polymerase II, 81 55 96 29 30 31 33 27 23 ENSG00000181322 chr3 138261437 138329886 - NME9 protein_coding 347736 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0004550, nucleoside diphosphate kinase activity, GO:0006241, GO:0006228, GO:0006183, GO:0006165, CTP biosynthetic process, UTP biosynthetic process, GTP biosynthetic process, nucleoside diphosphate phosphorylation, 4 5 6 15 12 3 20 8 4 ENSG00000181323 chr17 7420360 7421632 + SPEM1 protein_coding 374768 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0030317, GO:0007291, flagellated sperm motility, sperm individualization, 0 0 0 0 0 0 0 0 0 ENSG00000181325 chr11 56740179 56741096 + OR9G3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181333 chr11 94021361 94113751 + HEPHL1 protein_coding 341208 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0016491, GO:0005507, GO:0004322, GO:0004322, oxidoreductase activity, copper ion binding, ferroxidase activity, ferroxidase activity, GO:0055114, GO:0055072, GO:0006879, GO:0006826, GO:0006825, oxidation-reduction process, iron ion homeostasis, cellular iron ion homeostasis, iron ion transport, copper ion transport, 0 0 0 2 0 0 0 0 0 ENSG00000181350 chr17 16441577 16492153 - LRRC75A protein_coding 388341 GO:0005737, cytoplasm, 122 148 198 169 185 228 157 115 182 ENSG00000181355 chr6 9596110 10211608 - OFCC1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181358 chr13 49890591 49892998 + CTAGE10P processed_pseudogene 0 0 0 0 0 0 0 1 2 ENSG00000181359 chr4 170581470 170605450 - HSP90AA6P transcribed_processed_pseudogene 0 0 0 0 1 1 3 2 0 ENSG00000181371 chr11 56490349 56491395 - OR5M8 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219484 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181374 chr17 34356452 34358610 + CCL13 protein_coding This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014]. 6357 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0008009, GO:0008009, GO:0005515, GO:0005102, CCR chemokine receptor binding, chemokine activity, chemokine activity, protein binding, signaling receptor binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0061844, GO:0048247, GO:0048245, GO:0048245, GO:0043547, GO:0031640, GO:0030593, GO:0008360, GO:0007267, GO:0007186, GO:0007186, GO:0007165, GO:0007010, GO:0006954, GO:0006935, GO:0006874, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, antimicrobial humoral immune response mediated by antimicrobial peptide, lymphocyte chemotaxis, eosinophil chemotaxis, eosinophil chemotaxis, positive regulation of GTPase activity, killing of cells of other organism, neutrophil chemotaxis, regulation of cell shape, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cytoskeleton organization, inflammatory response, chemotaxis, cellular calcium ion homeostasis, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000181378 chr2 219002846 219041527 - CFAP65 protein_coding The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]. 255101 GO:0097225, GO:0036126, GO:0016021, GO:0005886, GO:0005737, GO:0002080, GO:0001669, sperm midpiece, sperm flagellum, integral component of membrane, plasma membrane, cytoplasm, acrosomal membrane, acrosomal vesicle, GO:0003723, RNA binding, GO:0030317, GO:0007288, flagellated sperm motility, sperm axoneme assembly, 0 1 0 0 2 2 0 0 0 ENSG00000181381 chr4 168356735 168537786 - DDX60L protein_coding This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 91351 GO:0005524, GO:0003724, GO:0003723, ATP binding, RNA helicase activity, RNA binding, 3820 3840 4613 2907 4453 4817 3358 3096 3952 ENSG00000181392 chr19 36003299 36008793 - SYNE4 protein_coding This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 163183 GO:0034993, GO:0031309, GO:0031309, meiotic nuclear membrane microtubule tethering complex, integral component of nuclear outer membrane, integral component of nuclear outer membrane, GO:0005515, protein binding, GO:0045198, GO:0045198, establishment of epithelial cell apical/basal polarity, establishment of epithelial cell apical/basal polarity, 1 6 3 6 0 13 5 6 5 ENSG00000181396 chr17 82389223 82418637 - OGFOD3 protein_coding 79701 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0051213, GO:0031418, GO:0016705, GO:0005506, dioxygenase activity, L-ascorbic acid binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, iron ion binding, GO:0055114, oxidation-reduction process, 16 21 30 28 16 36 34 15 27 ENSG00000181404 chr9 14521 73865 - WASHC1 protein_coding 100287171 GO:0071437, GO:0071203, GO:0055038, GO:0055037, GO:0043231, GO:0031901, GO:0005829, GO:0005814, GO:0005776, GO:0005770, GO:0005769, GO:0005769, GO:0000145, invadopodium, WASH complex, recycling endosome membrane, recycling endosome, intracellular membrane-bounded organelle, early endosome membrane, cytosol, centriole, autophagosome, late endosome, early endosome, early endosome, exocyst, GO:0043014, GO:0031625, GO:0005515, GO:0003779, alpha-tubulin binding, ubiquitin protein ligase binding, protein binding, actin binding, GO:1990126, GO:0043553, GO:0042147, GO:0042147, GO:0034314, GO:0034314, GO:0031396, GO:0031274, GO:0030335, GO:0022617, GO:0016197, GO:0015031, GO:0010507, GO:0006887, retrograde transport, endosome to plasma membrane, negative regulation of phosphatidylinositol 3-kinase activity, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, Arp2/3 complex-mediated actin nucleation, Arp2/3 complex-mediated actin nucleation, regulation of protein ubiquitination, positive regulation of pseudopodium assembly, positive regulation of cell migration, extracellular matrix disassembly, endosomal transport, protein transport, negative regulation of autophagy, exocytosis, 59 64 93 64 99 131 66 48 116 ENSG00000181408 chr17 82374230 82375586 + UTS2R protein_coding 2837 GO:0016020, GO:0005887, GO:0005886, membrane, integral component of plasma membrane, plasma membrane, GO:0008528, GO:0004930, GO:0001604, G protein-coupled peptide receptor activity, G protein-coupled receptor activity, urotensin II receptor activity, GO:0097746, GO:0008217, GO:0008015, GO:0007218, GO:0007186, GO:0007165, blood vessel diameter maintenance, regulation of blood pressure, blood circulation, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000181409 chr17 81117295 81166077 - AATK protein_coding The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. 9625 GO:0048471, GO:0016021, GO:0005575, perinuclear region of cytoplasm, integral component of membrane, cellular_component, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004713, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein tyrosine kinase activity, protein kinase activity, GO:0038083, GO:0008150, GO:0007420, GO:0006468, peptidyl-tyrosine autophosphorylation, biological_process, brain development, protein phosphorylation, 2849 3788 4309 2191 3422 2670 2443 2566 2120 ENSG00000181418 chr12 48995149 48999309 - DDN protein_coding 23109 GO:0045211, GO:0043204, GO:0042995, GO:0032591, GO:0005789, GO:0005737, GO:0005634, postsynaptic membrane, perikaryon, cell projection, dendritic spine membrane, endoplasmic reticulum membrane, cytoplasm, nucleus, GO:0005515, protein binding, 4 3 5 13 17 23 9 7 8 ENSG00000181433 chrX 135889205 135913061 + SAGE1 protein_coding This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008]. 55511 GO:0032039, GO:0016604, GO:0005654, integrator complex, nuclear body, nucleoplasm, GO:0034472, snRNA 3'-end processing, 0 0 1 0 0 2 0 0 2 ENSG00000181444 chr7 149764182 149773479 - ZNF467 protein_coding The protein encoded by this gene is a zinc finger protein whose function has not yet been elucidated in humans. However, the mouse ortholog of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several genes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug 2016]. 168544 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1876 1420 2834 648 1151 1189 971 978 1193 ENSG00000181449 chr3 181711924 181714436 + SOX2 protein_coding This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]. 6657 GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, GO:0000785, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, chromatin, GO:0043565, GO:0035198, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific DNA binding, miRNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0097150, GO:0090090, GO:0070848, GO:0050680, GO:0048839, GO:0048839, GO:0045944, GO:0045944, GO:0045893, GO:0045665, GO:0045597, GO:0045165, GO:0043410, GO:0043281, GO:0042246, GO:0035019, GO:0035019, GO:0035019, GO:0030900, GO:0030900, GO:0030154, GO:0022409, GO:0021984, GO:0021983, GO:0021781, GO:0019221, GO:0010468, GO:0009653, GO:0009611, GO:0007050, GO:0006355, GO:0006355, GO:0006355, GO:0006325, GO:0001714, GO:0001654, GO:0001649, GO:0000122, GO:0000122, neuronal stem cell population maintenance, negative regulation of canonical Wnt signaling pathway, response to growth factor, negative regulation of epithelial cell proliferation, inner ear development, inner ear development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of neuron differentiation, positive regulation of cell differentiation, cell fate commitment, positive regulation of MAPK cascade, regulation of cysteine-type endopeptidase activity involved in apoptotic process, tissue regeneration, somatic stem cell population maintenance, somatic stem cell population maintenance, somatic stem cell population maintenance, forebrain development, forebrain development, cell differentiation, positive regulation of cell-cell adhesion, adenohypophysis development, pituitary gland development, glial cell fate commitment, cytokine-mediated signaling pathway, regulation of gene expression, anatomical structure morphogenesis, response to wounding, cell cycle arrest, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, chromatin organization, endodermal cell fate specification, eye development, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000181450 chr1 227563543 227677443 + ZNF678 protein_coding 339500 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 21 10 32 41 18 59 42 15 19 ENSG00000181458 chr3 100492619 100577444 + TMEM45A protein_coding 55076 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000181467 chr3 153162270 153170620 + RAP2B protein_coding This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008]. 5912 GO:0070821, GO:0070062, GO:0070062, GO:0055038, GO:0045121, GO:0044291, GO:0035579, GO:0016020, GO:0005923, GO:0005886, GO:0005886, GO:0005886, GO:0005829, tertiary granule membrane, extracellular exosome, extracellular exosome, recycling endosome membrane, membrane raft, cell-cell contact zone, specific granule membrane, membrane, bicellular tight junction, plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0019904, GO:0019003, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0003924, protein domain specific binding, GDP binding, GDP binding, GTP binding, GTP binding, protein binding, GTPase activity, GO:0090557, GO:0070527, GO:0061097, GO:0043312, GO:0032486, GO:0032486, GO:0031954, GO:0030336, GO:0030168, GO:0030033, GO:0007165, establishment of endothelial intestinal barrier, platelet aggregation, regulation of protein tyrosine kinase activity, neutrophil degranulation, Rap protein signal transduction, Rap protein signal transduction, positive regulation of protein autophosphorylation, negative regulation of cell migration, platelet activation, microvillus assembly, signal transduction, 290 323 530 164 165 242 201 166 206 ENSG00000181472 chr6 151364117 151391548 - ZBTB2 protein_coding 57621 GO:0005654, nucleoplasm, GO:1990837, GO:0046872, GO:0042802, GO:0005515, GO:0001227, GO:0001227, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, identical protein binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 198 185 306 115 116 197 126 132 158 ENSG00000181481 chr17 30968785 30999911 + RNF135 protein_coding The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 84282 GO:1990904, GO:0010494, GO:0005829, GO:0005737, GO:0005737, ribonucleoprotein complex, cytoplasmic stress granule, cytosol, cytoplasm, cytoplasm, GO:0061630, GO:0046872, GO:0043021, GO:0043021, GO:0043021, GO:0042802, GO:0039552, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, metal ion binding, ribonucleoprotein complex binding, ribonucleoprotein complex binding, ribonucleoprotein complex binding, identical protein binding, RIG-I binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0140374, GO:0070534, GO:0051260, GO:0045088, GO:0045088, GO:0045087, GO:0039529, GO:0039529, GO:0032728, GO:0032480, GO:0016567, GO:0010994, GO:0000209, antiviral innate immune response, protein K63-linked ubiquitination, protein homooligomerization, regulation of innate immune response, regulation of innate immune response, innate immune response, RIG-I signaling pathway, RIG-I signaling pathway, positive regulation of interferon-beta production, negative regulation of type I interferon production, protein ubiquitination, free ubiquitin chain polymerization, protein polyubiquitination, 248 242 260 107 218 109 165 187 140 ENSG00000181499 chr11 123942785 123943873 - OR6T1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219874 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000181511 chrX 120733094 120733396 + AC011890.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181513 chr17 45132600 45144181 + ACBD4 protein_coding This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 79777 GO:0008289, GO:0000062, lipid binding, fatty-acyl-CoA binding, 10 20 43 28 36 34 39 18 33 ENSG00000181514 chr6 72598451 72599634 - FO393414.1 processed_pseudogene 1 0 0 0 0 0 0 0 1 ENSG00000181518 chr11 123902167 123909229 + OR8D4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 338662 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181523 chr17 80206716 80220923 - SGSH protein_coding This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]. 6448 GO:0070062, GO:0043202, GO:0005764, extracellular exosome, lysosomal lumen, lysosome, GO:0046872, GO:0016250, GO:0016250, GO:0016250, GO:0008449, GO:0005539, metal ion binding, N-sulfoglucosamine sulfohydrolase activity, N-sulfoglucosamine sulfohydrolase activity, N-sulfoglucosamine sulfohydrolase activity, N-acetylglucosamine-6-sulfatase activity, glycosaminoglycan binding, GO:0030200, GO:0030200, GO:0006027, GO:0006027, GO:0006027, heparan sulfate proteoglycan catabolic process, heparan sulfate proteoglycan catabolic process, glycosaminoglycan catabolic process, glycosaminoglycan catabolic process, glycosaminoglycan catabolic process, 144 167 298 181 119 261 197 129 154 ENSG00000181524 chr6 42956345 42956765 - RPL24P4 processed_pseudogene 31 23 29 43 27 72 38 58 31 ENSG00000181541 chr4 150581922 150584693 + MAB21L2 protein_coding This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]. 10586 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0043010, GO:0010172, GO:0008284, GO:0007399, GO:0001654, camera-type eye development, embryonic body morphogenesis, positive regulation of cell population proliferation, nervous system development, eye development, 0 0 0 0 0 0 3 0 0 ENSG00000181544 chrX 14835961 14873069 - FANCB protein_coding This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]. 2187 GO:0043240, GO:0043240, GO:0005654, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, nucleoplasm, GO:0005515, protein binding, GO:2000042, GO:1990414, GO:1905168, GO:0036297, negative regulation of double-strand break repair via homologous recombination, replication-born double-strand break repair via sister chromatid exchange, positive regulation of double-strand break repair via homologous recombination, interstrand cross-link repair, 56 24 49 16 21 15 26 21 33 ENSG00000181552 chr14 20768427 20770948 + EDDM3B protein_coding Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]. 64184 GO:0005576, extracellular region, GO:0005515, GO:0003674, protein binding, molecular_function, 0 0 0 0 0 0 0 0 0 ENSG00000181555 chr3 47016429 47163967 - SETD2 protein_coding Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]. 29072 GO:0005694, GO:0005654, GO:0005634, chromosome, nucleoplasm, nucleus, GO:0046975, GO:0046872, GO:0043014, GO:0018024, GO:0018024, GO:0018024, GO:0016279, GO:0005515, histone methyltransferase activity (H3-K36 specific), metal ion binding, alpha-tubulin binding, histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, GO:1905634, GO:1902850, GO:0097676, GO:0097198, GO:0097198, GO:0060977, GO:0060669, GO:0060039, GO:0051607, GO:0048864, GO:0048863, GO:0048701, GO:0048332, GO:0035987, GO:0035441, GO:0034728, GO:0034340, GO:0032727, GO:0032465, GO:0030900, GO:0018026, GO:0018023, GO:0016032, GO:0010793, GO:0010569, GO:0006368, GO:0006355, GO:0006298, GO:0001843, GO:0001763, GO:0001525, regulation of protein localization to chromatin, microtubule cytoskeleton organization involved in mitosis, histone H3-K36 dimethylation, histone H3-K36 trimethylation, histone H3-K36 trimethylation, coronary vasculature morphogenesis, embryonic placenta morphogenesis, pericardium development, defense response to virus, stem cell development, stem cell differentiation, embryonic cranial skeleton morphogenesis, mesoderm morphogenesis, endodermal cell differentiation, cell migration involved in vasculogenesis, nucleosome organization, response to type I interferon, positive regulation of interferon-alpha production, regulation of cytokinesis, forebrain development, peptidyl-lysine monomethylation, peptidyl-lysine trimethylation, viral process, regulation of mRNA export from nucleus, regulation of double-strand break repair via homologous recombination, transcription elongation from RNA polymerase II promoter, regulation of transcription, DNA-templated, mismatch repair, neural tube closure, morphogenesis of a branching structure, angiogenesis, 1837 1891 2447 1081 1299 1205 1214 986 1144 ENSG00000181562 chr14 20745892 20748380 + EDDM3A protein_coding Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]. 10876 GO:0005615, extracellular space, GO:0005515, protein binding, GO:0007321, sperm displacement, 0 0 0 0 0 0 0 0 0 ENSG00000181577 chr6 44000580 44005958 + C6orf223 protein_coding 0 0 2 0 0 0 0 1 0 ENSG00000181585 chr3 46694528 46710886 + TMIE protein_coding This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]. 259236 GO:0016021, integral component of membrane, GO:0042472, GO:0007605, inner ear morphogenesis, sensory perception of sound, 0 0 4 0 0 0 3 0 0 ENSG00000181588 chr19 1554669 1568058 - MEX3D protein_coding 399664 GO:0048471, GO:0005634, perinuclear region of cytoplasm, nucleus, GO:0046872, GO:0035925, GO:0003723, metal ion binding, mRNA 3'-UTR AU-rich region binding, RNA binding, GO:0061157, GO:0010609, mRNA destabilization, mRNA localization resulting in posttranscriptional regulation of gene expression, 21 20 19 20 7 4 7 2 3 ENSG00000181609 chr11 5488685 5489749 + OR52D1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390066 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181610 chr17 57834781 57850056 - MRPS23 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]. 51649 GO:0031965, GO:0005840, GO:0005743, GO:0005739, GO:0005739, nuclear membrane, ribosome, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 13 13 22 14 16 31 8 10 24 ENSG00000181616 chr11 5544489 5548533 - OR52H1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390067 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 2 0 0 0 0 1 0 ENSG00000181617 chr4 70226071 70235252 + FDCSP protein_coding This gene encodes a small secreted protein that is expressed in follicular dendritic cells. This protein specifically binds to activated B cells, and functions as a regulator of antibody responses. It is also thought to contribute to tumor metastases by promoting cancer cell migration and invasion. [provided by RefSeq, Dec 2011]. 260436 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000181619 chr14 59429022 59465342 - GPR135 protein_coding 64582 GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005768, GO:0005768, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, endosome, endosome, GO:1990763, GO:0005515, GO:0004930, GO:0004930, arrestin family protein binding, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0007186, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 5 6 10 3 4 9 0 7 ENSG00000181625 chr16 29454501 29458219 + SLX1B protein_coding This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010]. 79008 GO:0033557, GO:0033557, GO:0033557, GO:0005654, GO:0005654, Slx1-Slx4 complex, Slx1-Slx4 complex, Slx1-Slx4 complex, nucleoplasm, nucleoplasm, GO:0046872, GO:0017108, GO:0017108, GO:0008821, GO:0008821, GO:0005515, metal ion binding, 5'-flap endonuclease activity, 5'-flap endonuclease activity, crossover junction endodeoxyribonuclease activity, crossover junction endodeoxyribonuclease activity, protein binding, GO:1904431, GO:1904357, GO:0090656, GO:0090656, GO:0090305, GO:0061820, GO:0036297, GO:0010833, GO:0010792, GO:0006281, GO:0000724, GO:0000724, positive regulation of t-circle formation, negative regulation of telomere maintenance via telomere lengthening, t-circle formation, t-circle formation, nucleic acid phosphodiester bond hydrolysis, telomeric D-loop disassembly, interstrand cross-link repair, telomere maintenance via telomere lengthening, DNA double-strand break processing involved in repair via single-strand annealing, DNA repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 0 0 1 1 0 0 0 0 0 ENSG00000181626 chr18 12093853 12129749 + ANKRD62 protein_coding 342850 0 0 1 0 0 0 0 2 0 ENSG00000181631 chr3 151326312 151329548 - P2RY13 protein_coding The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq, Sep 2008]. 53829 GO:0016021, GO:0005886, GO:0005783, integral component of membrane, plasma membrane, endoplasmic reticulum, GO:0045028, GO:0005515, G protein-coupled purinergic nucleotide receptor activity, protein binding, GO:0071407, GO:0035589, GO:0008150, GO:0007194, GO:0007186, GO:0007186, cellular response to organic cyclic compound, G protein-coupled purinergic nucleotide receptor signaling pathway, biological_process, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 9551 7930 11502 854 2532 1433 1246 2248 1683 ENSG00000181634 chr9 114784635 114806126 - TNFSF15 protein_coding The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 9966 GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005615, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0005515, GO:0005164, GO:0005125, GO:0005102, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:0033209, GO:0007250, GO:0007165, GO:0006955, GO:0006919, GO:0006919, GO:0006915, GO:0001816, tumor necrosis factor-mediated signaling pathway, activation of NF-kappaB-inducing kinase activity, signal transduction, immune response, activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, cytokine production, 93 125 285 10 22 52 24 21 19 ENSG00000181638 chr8 143246821 143262705 + ZFP41 protein_coding 286128 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0030154, GO:0007283, GO:0007275, GO:0006357, cell differentiation, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, 1 0 8 15 7 8 15 1 4 ENSG00000181649 chr11 2928273 2929455 - PHLDA2 protein_coding This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]. 7262 GO:0016020, GO:0005737, membrane, cytoplasm, GO:1901981, GO:0005515, phosphatidylinositol phosphate binding, protein binding, GO:0043065, GO:0006915, GO:0001890, positive regulation of apoptotic process, apoptotic process, placenta development, 0 0 0 0 0 0 0 0 0 ENSG00000181652 chr7 151012209 151024499 - ATG9B protein_coding This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. 285973 GO:0031410, GO:0016021, GO:0005776, GO:0000421, GO:0000407, cytoplasmic vesicle, integral component of membrane, autophagosome, autophagosome membrane, phagophore assembly site, GO:0044805, GO:0034497, GO:0000422, GO:0000045, late nucleophagy, protein localization to phagophore assembly site, autophagy of mitochondrion, autophagosome assembly, 8 1 10 4 4 16 4 2 6 ENSG00000181656 chr1 100538137 100542018 + GPR88 protein_coding The protein encoded by this gene is a G protein-coupled receptor found almost exclusively in the striatum, a brain structure that controls motor function and cognition. Defects in this gene have been associated with chorea, speech delay, and learning difficulties, as well as some neuropsychiatric disorders. [provided by RefSeq, Mar 2017]. 54112 GO:0005929, GO:0005887, GO:0005886, GO:0005737, GO:0005634, cilium, integral component of plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0008020, GO:0003774, G protein-coupled photoreceptor activity, motor activity, GO:0071482, GO:0061743, GO:0050885, GO:0019228, GO:0009584, GO:0007626, GO:0007602, GO:0007186, GO:0007186, cellular response to light stimulus, motor learning, neuromuscular process controlling balance, neuronal action potential, detection of visible light, locomotory behavior, phototransduction, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 0 0 0 2 0 3 1 0 ENSG00000181666 chr19 37312837 37369365 + HKR1 protein_coding 284459 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0007275, GO:0006357, GO:0006355, GO:0000122, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 86 79 81 152 109 138 142 86 85 ENSG00000181690 chr8 56160904 56211324 - PLAG1 protein_coding Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 5324 GO:0016607, GO:0005829, GO:0005813, GO:0005654, GO:0000785, nuclear speck, cytosol, centrosome, nucleoplasm, chromatin, GO:0046872, GO:0003700, GO:0001228, GO:0000981, GO:0000978, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060736, GO:0060252, GO:0045944, GO:0035264, GO:0022612, GO:0010629, GO:0006355, prostate gland growth, positive regulation of glial cell proliferation, positive regulation of transcription by RNA polymerase II, multicellular organism growth, gland morphogenesis, negative regulation of gene expression, regulation of transcription, DNA-templated, 19 16 17 9 4 31 5 16 12 ENSG00000181693 chr11 56288462 56292254 - OR8H1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219469 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181698 chr11 56274154 56276819 + OR5T1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390155 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181704 chrX 68498323 68537285 + YIPF6 protein_coding 286451 GO:0030134, GO:0016021, GO:0005802, GO:0005801, GO:0005797, GO:0005783, GO:0000139, GO:0000138, COPII-coated ER to Golgi transport vesicle, integral component of membrane, trans-Golgi network, cis-Golgi network, Golgi medial cisterna, endoplasmic reticulum, Golgi membrane, Golgi trans cisterna, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0060576, intestinal epithelial cell development, 477 457 588 301 411 396 304 312 286 ENSG00000181705 chr6 80499196 80499392 - AL596028.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181718 chr11 56231282 56234255 - OR5T2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219464 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000181722 chr3 114314501 115147271 - ZBTB20 protein_coding This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]. 26137 GO:0016604, GO:0005737, GO:0005654, GO:0005654, GO:0005634, nuclear body, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:1990837, GO:0046872, GO:0001227, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071333, GO:0055088, GO:0046889, GO:0045821, GO:0006357, GO:0000122, cellular response to glucose stimulus, lipid homeostasis, positive regulation of lipid biosynthetic process, positive regulation of glycolytic process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 84 95 120 82 74 101 86 53 69 ENSG00000181733 chr19 8721634 8732160 + OR2Z1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 284383 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181741 chr20 34475924 34476474 - FDX1P1 processed_pseudogene 2 3 6 4 5 1 1 2 6 ENSG00000181744 chr3 143971798 144048719 + C3orf58 protein_coding 205428 GO:0030126, GO:0030126, GO:0005615, GO:0005615, GO:0000139, COPI vesicle coat, COPI vesicle coat, extracellular space, extracellular space, Golgi membrane, GO:1900020, GO:0060038, GO:0060038, GO:0034392, GO:0014066, GO:0014066, positive regulation of protein kinase C activity, cardiac muscle cell proliferation, cardiac muscle cell proliferation, negative regulation of smooth muscle cell apoptotic process, regulation of phosphatidylinositol 3-kinase signaling, regulation of phosphatidylinositol 3-kinase signaling, 70 92 142 157 121 172 123 89 108 ENSG00000181751 chr5 103258702 103278660 + C5orf30 protein_coding This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserved in vertebrate genomes but has no significant similarity to any other human protein. [provided by RefSeq, Dec 2019]. 90355 GO:0035869, GO:0005737, ciliary transition zone, cytoplasm, GO:0005515, protein binding, GO:1900016, GO:0060271, GO:0050728, GO:0015031, GO:0010764, GO:0006954, negative regulation of cytokine production involved in inflammatory response, cilium assembly, negative regulation of inflammatory response, protein transport, negative regulation of fibroblast migration, inflammatory response, 6 13 18 4 15 6 17 11 8 ENSG00000181752 chr11 56159394 56160317 - OR8K5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219453 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181754 chr1 109504175 109509738 - AMIGO1 protein_coding 57463 GO:1990030, GO:0043204, GO:0032809, GO:0030425, GO:0016021, GO:0008076, pericellular basket, perikaryon, neuronal cell body membrane, dendrite, integral component of membrane, voltage-gated potassium channel complex, GO:0015459, GO:0005515, potassium channel regulator activity, protein binding, GO:1905232, GO:1903818, GO:1901381, GO:0051965, GO:0050772, GO:0042552, GO:0007420, GO:0007413, GO:0007409, GO:0007157, GO:0007156, cellular response to L-glutamate, positive regulation of voltage-gated potassium channel activity, positive regulation of potassium ion transmembrane transport, positive regulation of synapse assembly, positive regulation of axonogenesis, myelination, brain development, axonal fasciculation, axonogenesis, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 7 7 23 24 8 34 32 13 38 ENSG00000181761 chr11 56122373 56123311 + OR8H3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390152 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181767 chr11 56103687 56107658 + OR8H2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390151 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181773 chr1 27392644 27395814 + GPR3 protein_coding This gene is a member of the G protein-coupled receptor family and is found in the cell membrane. G protein-coupled receptors, characterized by a seven transmembrane domain motif, are involved in translating outside signals into G protein mediated intracellular effects. The encoded protein activates adenylate cyclase and modulates amyloid-beta production in a mouse model, suggesting that it may play a role in Alzheimer's disease. [provided by RefSeq, Oct 2012]. 2827 GO:0005887, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0120162, GO:0040020, GO:0019222, GO:0007189, positive regulation of cold-induced thermogenesis, regulation of meiotic nuclear division, regulation of metabolic process, adenylate cyclase-activating G protein-coupled receptor signaling pathway, 4 11 7 53 80 84 53 57 45 ENSG00000181778 chr9 68536580 68540867 - TMEM252 protein_coding 169693 GO:0016021, integral component of membrane, GO:0005515, protein binding, 36 29 58 8 16 15 10 25 18 ENSG00000181780 chr11 56071111 56072049 + OR5J1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181781 chr19 463346 474983 - ODF3L2 protein_coding 284451 GO:0005881, GO:0005881, GO:0005856, cytoplasmic microtubule, cytoplasmic microtubule, cytoskeleton, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000181785 chr11 56027654 56038191 + OR5AS1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219447 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0005515, GO:0004984, GO:0004930, odorant binding, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181786 chr19 8697397 8698822 - ACTL9 protein_coding 284382 GO:0005869, GO:0005737, dynactin complex, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000181788 chr3 150741127 150763477 - SIAH2 protein_coding This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]. 6478 GO:0043231, GO:0043025, GO:0043005, GO:0005829, GO:0005829, GO:0005769, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, neuronal cell body, neuron projection, cytosol, cytosol, early endosome, cytoplasm, nucleoplasm, GO:0061630, GO:0061630, GO:0031624, GO:0008270, GO:0005515, GO:0004842, GO:0004842, GO:0003714, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin conjugating enzyme binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, transcription corepressor activity, GO:2001237, GO:1903507, GO:1902842, GO:0090090, GO:0048511, GO:0044267, GO:0044257, GO:0043161, GO:0043154, GO:0043066, GO:0042752, GO:0031396, GO:0016579, GO:0007275, GO:0007264, GO:0007049, GO:0006915, GO:0006511, GO:0006511, GO:0000209, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of nucleic acid-templated transcription, negative regulation of netrin-activated signaling pathway, negative regulation of canonical Wnt signaling pathway, rhythmic process, cellular protein metabolic process, cellular protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, regulation of circadian rhythm, regulation of protein ubiquitination, protein deubiquitination, multicellular organism development, small GTPase mediated signal transduction, cell cycle, apoptotic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 586 478 563 434 375 420 434 361 317 ENSG00000181789 chr3 129249606 129277773 + COPG1 protein_coding 22820 GO:0030133, GO:0030126, GO:0030126, GO:0005829, GO:0005794, GO:0005793, GO:0005789, GO:0005783, GO:0000139, GO:0000139, GO:0000139, transport vesicle, COPI vesicle coat, COPI vesicle coat, cytosol, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, Golgi membrane, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0072384, GO:0072384, GO:0051683, GO:0009306, GO:0006891, GO:0006890, GO:0006888, GO:0006888, GO:0006886, organelle transport along microtubule, organelle transport along microtubule, establishment of Golgi localization, protein secretion, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 507 487 587 468 585 466 468 441 461 ENSG00000181790 chr8 142449430 142545009 + ADGRB1 protein_coding Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]. 575 GO:0048471, GO:0043197, GO:0030425, GO:0030425, GO:0016021, GO:0014069, GO:0014069, GO:0005925, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005615, GO:0001891, perinuclear region of cytoplasm, dendritic spine, dendrite, dendrite, integral component of membrane, postsynaptic density, postsynaptic density, focal adhesion, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, phagocytic cup, GO:0030165, GO:0005515, GO:0004930, GO:0004930, GO:0001786, GO:0001530, PDZ domain binding, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, phosphatidylserine binding, lipopolysaccharide binding, GO:1903428, GO:1901741, GO:0051965, GO:0050829, GO:0048167, GO:0045087, GO:0043652, GO:0043652, GO:0043652, GO:0043277, GO:0042177, GO:0031397, GO:0016525, GO:0010596, GO:0008285, GO:0007517, GO:0007422, GO:0007409, GO:0007189, GO:0007186, GO:0007166, GO:0007165, GO:0007155, GO:0006910, positive regulation of reactive oxygen species biosynthetic process, positive regulation of myoblast fusion, positive regulation of synapse assembly, defense response to Gram-negative bacterium, regulation of synaptic plasticity, innate immune response, engulfment of apoptotic cell, engulfment of apoptotic cell, engulfment of apoptotic cell, apoptotic cell clearance, negative regulation of protein catabolic process, negative regulation of protein ubiquitination, negative regulation of angiogenesis, negative regulation of endothelial cell migration, negative regulation of cell population proliferation, muscle organ development, peripheral nervous system development, axonogenesis, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, cell adhesion, phagocytosis, recognition, 2 3 8 0 2 0 4 0 2 ENSG00000181798 chr2 231508426 231514339 - LINC00471 lincRNA 151477 1 1 0 1 0 0 3 2 0 ENSG00000181800 chr10 11316834 11319884 - CELF2-AS1 antisense 414196 GO:0005576, extracellular region, 328 416 339 291 468 417 390 304 382 ENSG00000181803 chr14 20640696 20641691 - OR6S1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 341799 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181804 chr3 143265222 143848531 - SLC9A9 protein_coding This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]. 285195 GO:0055037, GO:0055037, GO:0031902, GO:0016021, GO:0005886, recycling endosome, recycling endosome, late endosome membrane, integral component of membrane, plasma membrane, GO:0015386, GO:0015385, GO:0015385, GO:0005515, potassium:proton antiporter activity, sodium:proton antiporter activity, sodium:proton antiporter activity, protein binding, GO:1902600, GO:0098719, GO:0098656, GO:0071805, GO:0051453, GO:0006811, proton transmembrane transport, sodium ion import across plasma membrane, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, ion transport, 18 16 29 32 8 43 14 13 33 ENSG00000181817 chr1 36391238 36397892 - LSM10 protein_coding 84967 GO:0016604, GO:0015030, GO:0005683, GO:0005654, GO:0005654, nuclear body, Cajal body, U7 snRNP, nucleoplasm, nucleoplasm, GO:0071209, GO:0071208, GO:0005515, U7 snRNA binding, histone pre-mRNA DCP binding, protein binding, GO:1900087, GO:0008380, GO:0008334, GO:0006397, GO:0006369, positive regulation of G1/S transition of mitotic cell cycle, RNA splicing, histone mRNA metabolic process, mRNA processing, termination of RNA polymerase II transcription, 646 443 637 102 230 160 155 243 164 ENSG00000181819 chrX 105405647 105407039 + KCTD9P2 processed_pseudogene 1 1 0 0 0 7 1 2 0 ENSG00000181826 chr4 37590800 37686376 - RELL1 protein_coding 768211 GO:0016021, GO:0015630, GO:0005886, GO:0005886, integral component of membrane, microtubule cytoskeleton, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:1900745, GO:1900745, positive regulation of p38MAPK cascade, positive regulation of p38MAPK cascade, 494 628 506 222 711 368 306 480 332 ENSG00000181827 chr15 56087280 56243266 - RFX7 protein_coding RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]. 64864 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 47 46 97 135 41 96 120 42 109 ENSG00000181830 chr11 45804072 45813015 + SLC35C1 protein_coding This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]. 55343 GO:0016021, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0015297, GO:0005457, GO:0005457, antiporter activity, GDP-fucose transmembrane transporter activity, GDP-fucose transmembrane transporter activity, GO:0045746, GO:0036085, GO:0036066, GO:0030259, GO:0008643, negative regulation of Notch signaling pathway, GDP-fucose import into Golgi lumen, protein O-linked fucosylation, lipid glycosylation, carbohydrate transport, 42 33 48 45 30 67 30 29 44 ENSG00000181837 chr11 55754977 55755957 + OR5D17P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181847 chr3 114276913 114310288 + TIGIT protein_coding This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]. 201633 GO:0016021, GO:0009986, GO:0009986, GO:0005886, integral component of membrane, cell surface, cell surface, plasma membrane, GO:0042802, GO:0005515, GO:0005102, GO:0005102, identical protein binding, protein binding, signaling receptor binding, signaling receptor binding, GO:0050868, GO:0050868, GO:0050868, GO:0032733, GO:0032733, GO:0032695, GO:0032695, negative regulation of T cell activation, negative regulation of T cell activation, negative regulation of T cell activation, positive regulation of interleukin-10 production, positive regulation of interleukin-10 production, negative regulation of interleukin-12 production, negative regulation of interleukin-12 production, 55 14 128 127 57 317 129 60 180 ENSG00000181852 chr12 56202175 56221933 - RNF41 protein_coding This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]. 10193 GO:0071782, GO:0071782, GO:0048471, GO:0005829, endoplasmic reticulum tubular network, endoplasmic reticulum tubular network, perinuclear region of cytoplasm, cytosol, GO:0061630, GO:0061630, GO:0042802, GO:0031267, GO:0030971, GO:0019904, GO:0008270, GO:0005515, GO:0005135, GO:0005128, GO:0004842, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, identical protein binding, small GTPase binding, receptor tyrosine kinase binding, protein domain specific binding, zinc ion binding, protein binding, interleukin-3 receptor binding, erythropoietin receptor binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2000379, GO:2000377, GO:2000114, GO:1901525, GO:0097191, GO:0051896, GO:0051865, GO:0051091, GO:0045732, GO:0045637, GO:0045619, GO:0043408, GO:0030336, GO:0016567, GO:0010498, GO:0008285, GO:0006914, GO:0000209, positive regulation of reactive oxygen species metabolic process, regulation of reactive oxygen species metabolic process, regulation of establishment of cell polarity, negative regulation of mitophagy, extrinsic apoptotic signaling pathway, regulation of protein kinase B signaling, protein autoubiquitination, positive regulation of DNA-binding transcription factor activity, positive regulation of protein catabolic process, regulation of myeloid cell differentiation, regulation of lymphocyte differentiation, regulation of MAPK cascade, negative regulation of cell migration, protein ubiquitination, proteasomal protein catabolic process, negative regulation of cell population proliferation, autophagy, protein polyubiquitination, 685 622 769 285 451 382 286 372 300 ENSG00000181856 chr17 7281667 7288257 + SLC2A4 protein_coding This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]. 6517 GO:0098793, GO:0070062, GO:0048471, GO:0045121, GO:0042383, GO:0032593, GO:0032593, GO:0030659, GO:0030315, GO:0030140, GO:0030136, GO:0016529, GO:0016020, GO:0012506, GO:0012505, GO:0009897, GO:0005905, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005771, presynapse, extracellular exosome, perinuclear region of cytoplasm, membrane raft, sarcolemma, insulin-responsive compartment, insulin-responsive compartment, cytoplasmic vesicle membrane, T-tubule, trans-Golgi network transport vesicle, clathrin-coated vesicle, sarcoplasmic reticulum, membrane, vesicle membrane, endomembrane system, external side of plasma membrane, clathrin-coated pit, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, trans-Golgi network, multivesicular body, GO:0055056, GO:0005515, GO:0005355, D-glucose transmembrane transporter activity, protein binding, glucose transmembrane transporter activity, GO:1904659, GO:1904659, GO:0150104, GO:0098694, GO:0071470, GO:0071456, GO:0071356, GO:0050873, GO:0046323, GO:0045471, GO:0044381, GO:0042593, GO:0032869, GO:0032869, GO:0031550, GO:0010021, GO:0007616, GO:0007614, GO:0007611, GO:0005975, glucose transmembrane transport, glucose transmembrane transport, transport across blood-brain barrier, regulation of synaptic vesicle budding from presynaptic endocytic zone membrane, cellular response to osmotic stress, cellular response to hypoxia, cellular response to tumor necrosis factor, brown fat cell differentiation, glucose import, response to ethanol, glucose import in response to insulin stimulus, glucose homeostasis, cellular response to insulin stimulus, cellular response to insulin stimulus, positive regulation of brain-derived neurotrophic factor receptor signaling pathway, amylopectin biosynthetic process, long-term memory, short-term memory, learning or memory, carbohydrate metabolic process, 0 2 0 0 0 0 0 0 1 ENSG00000181867 chr5 121851955 121852833 + FTMT protein_coding 94033 GO:0005759, GO:0005737, GO:0005634, mitochondrial matrix, cytoplasm, nucleus, GO:0008199, GO:0008198, GO:0004322, ferric iron binding, ferrous iron binding, ferroxidase activity, GO:1904234, GO:1904231, GO:0055114, GO:0051349, GO:0008284, GO:0006880, GO:0006879, GO:0006879, GO:0006826, positive regulation of aconitate hydratase activity, positive regulation of succinate dehydrogenase activity, oxidation-reduction process, positive regulation of lyase activity, positive regulation of cell population proliferation, intracellular sequestering of iron ion, cellular iron ion homeostasis, cellular iron ion homeostasis, iron ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000181873 chr1 228165815 228182257 + IBA57 protein_coding The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]. 200205 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0016740, GO:0005515, GO:0003723, transferase activity, protein binding, RNA binding, GO:0016226, GO:0006783, iron-sulfur cluster assembly, heme biosynthetic process, 61 67 45 168 112 143 107 82 96 ENSG00000181885 chr17 7259903 7263983 - CLDN7 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]. 1366 GO:0016323, GO:0016021, GO:0005923, GO:0005923, GO:0005886, GO:0005886, basolateral plasma membrane, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:0070830, GO:0016338, GO:0007155, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 1 0 0 0 2 3 1 2 0 ENSG00000181894 chr19 58126252 58155110 - ZNF329 protein_coding 79673 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 31 38 49 29 53 18 57 28 23 ENSG00000181896 chr19 19668796 19683509 + ZNF101 protein_coding Zinc finger proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is regulating transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Nov 2010]. 94039 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 171 113 170 214 161 220 179 118 191 ENSG00000181903 chr11 55662201 55666195 + OR4C6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219432 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181904 chr5 134845680 134859737 + C5orf24 protein_coding 134553 GO:0005515, protein binding, 70 99 105 81 52 95 89 69 71 ENSG00000181908 chr11 64449074 64451657 + AP003774.1 lincRNA 100996455 0 3 3 0 0 0 0 1 4 ENSG00000181915 chr10 62804857 62808483 + ADO protein_coding Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008]. 84890 GO:0005829, cytosol, GO:0047800, GO:0046872, GO:0005515, cysteamine dioxygenase activity, metal ion binding, protein binding, GO:0055114, GO:0000098, oxidation-reduction process, sulfur amino acid catabolic process, 55 50 82 64 19 34 79 24 45 ENSG00000181924 chr11 73872667 73876988 - COA4 protein_coding 51287 GO:0005758, GO:0005739, mitochondrial intermembrane space, mitochondrion, GO:0033617, mitochondrial cytochrome c oxidase assembly, 10 18 15 26 15 31 18 1 25 ENSG00000181927 chr11 55635113 55640309 + OR4P4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81300 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181929 chr12 49002274 49018825 - PRKAG1 protein_coding The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 5571 GO:0031588, GO:0031588, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005634, nucleotide-activated protein kinase complex, nucleotide-activated protein kinase complex, membrane, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0043531, GO:0019901, GO:0019901, GO:0019887, GO:0019887, GO:0016208, GO:0016208, GO:0008603, GO:0005524, GO:0005515, GO:0004691, GO:0004679, GO:0004672, ADP binding, protein kinase binding, protein kinase binding, protein kinase regulator activity, protein kinase regulator activity, AMP binding, AMP binding, cAMP-dependent protein kinase regulator activity, ATP binding, protein binding, cAMP-dependent protein kinase activity, AMP-activated protein kinase activity, protein kinase activity, GO:2000479, GO:1901796, GO:0050790, GO:0045860, GO:0042149, GO:0016241, GO:0016236, GO:0010628, GO:0007283, GO:0007165, GO:0007050, GO:0006633, GO:0006468, GO:0006468, GO:0006110, regulation of cAMP-dependent protein kinase activity, regulation of signal transduction by p53 class mediator, regulation of catalytic activity, positive regulation of protein kinase activity, cellular response to glucose starvation, regulation of macroautophagy, macroautophagy, positive regulation of gene expression, spermatogenesis, signal transduction, cell cycle arrest, fatty acid biosynthetic process, protein phosphorylation, protein phosphorylation, regulation of glycolytic process, 401 336 423 324 306 288 265 241 262 ENSG00000181938 chr16 58295080 58406144 + GINS3 protein_coding This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 64785 GO:0071162, GO:0005654, GO:0005654, GO:0000811, CMG complex, nucleoplasm, nucleoplasm, GINS complex, GO:0005515, protein binding, GO:1902975, GO:0006271, mitotic DNA replication initiation, DNA strand elongation involved in DNA replication, 1 1 1 8 2 0 0 2 0 ENSG00000181939 chr11 55554307 55555419 + OR4C15 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81309 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181943 chr11 55491205 55492148 + OR4A21P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181950 chr11 55466771 55467712 + OR4A13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181958 chr11 55367884 55368918 + OR4A15 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81328 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181961 chr11 55343151 55344231 + OR4A16 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81327 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000181963 chr11 4449295 4450361 + OR52K2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119774 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 14 15 9 5 22 17 9 8 8 ENSG00000181965 chr5 135534282 135535949 - NEUROG1 protein_coding 4762 GO:0043204, GO:0005634, GO:0000785, perikaryon, nucleus, chromatin, GO:1990837, GO:0070888, GO:0070888, GO:0042803, GO:0005515, GO:0003700, GO:0003682, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, E-box binding, protein homodimerization activity, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1905748, GO:1905747, GO:1901078, GO:0098583, GO:0097094, GO:0090103, GO:0090102, GO:0071626, GO:0051091, GO:0050885, GO:0048839, GO:0048806, GO:0048634, GO:0045944, GO:0045666, GO:0045165, GO:0042472, GO:0035112, GO:0031536, GO:0031223, GO:0030432, GO:0030182, GO:0021650, GO:0021559, GO:0007399, GO:0007356, GO:0006357, hard palate morphogenesis, negative regulation of saliva secretion, negative regulation of relaxation of muscle, learned vocalization behavior, craniofacial suture morphogenesis, cochlea morphogenesis, cochlea development, mastication, positive regulation of DNA-binding transcription factor activity, neuromuscular process controlling balance, inner ear development, genitalia development, regulation of muscle organ development, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, cell fate commitment, inner ear morphogenesis, genitalia morphogenesis, positive regulation of exit from mitosis, auditory behavior, peristalsis, neuron differentiation, vestibulocochlear nerve formation, trigeminal nerve development, nervous system development, thorax and anterior abdomen determination, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000181977 chrX 50156159 50156371 + PYY3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000181982 chr4 24806117 24980204 - CCDC149 protein_coding 91050 35 44 40 18 64 10 21 50 47 ENSG00000181984 chr15 20562375 20575696 + GOLGA8CP unprocessed_pseudogene 729786 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 0 0 0 0 0 0 ENSG00000181991 chr15 88467453 88480773 + MRPS11 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]. 64963 GO:0022627, GO:0005763, GO:0005763, GO:0005743, GO:0005739, cytosolic small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0070181, GO:0048027, GO:0005515, GO:0003735, GO:0003735, GO:0003723, small ribosomal subunit rRNA binding, mRNA 5'-UTR binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0042769, GO:0032543, GO:0006412, GO:0000462, GO:0000028, mitochondrial translational termination, mitochondrial translational elongation, DNA damage response, detection of DNA damage, mitochondrial translation, translation, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), ribosomal small subunit assembly, 33 36 32 31 32 31 46 39 30 ENSG00000181995 chr11 60615729 60687267 + LINC00301 transcribed_unitary_pseudogene 283197 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000181997 chr9 64621560 64637586 - AQP7P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182000 chr3 149984395 149984797 + PPIAP73 processed_pseudogene 0 2 0 1 3 0 0 1 0 ENSG00000182004 chr1 203861603 203870550 + SNRPE protein_coding The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]. 6635 GO:0071013, GO:0071011, GO:0071007, GO:0071005, GO:0046540, GO:0046540, GO:0034719, GO:0034715, GO:0034709, GO:0030532, GO:0005829, GO:0005829, GO:0005697, GO:0005689, GO:0005687, GO:0005687, GO:0005686, GO:0005685, GO:0005685, GO:0005683, GO:0005682, GO:0005681, GO:0005654, GO:0005634, catalytic step 2 spliceosome, precatalytic spliceosome, U2-type catalytic step 2 spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, SMN-Sm protein complex, pICln-Sm protein complex, methylosome, small nuclear ribonucleoprotein complex, cytosol, cytosol, telomerase holoenzyme complex, U12-type spliceosomal complex, U4 snRNP, U4 snRNP, U2 snRNP, U1 snRNP, U1 snRNP, U7 snRNP, U5 snRNP, spliceosomal complex, nucleoplasm, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0051170, GO:0042633, GO:0008334, GO:0006369, GO:0000398, GO:0000398, GO:0000398, GO:0000387, GO:0000387, GO:0000387, GO:0000245, import into nucleus, hair cycle, histone mRNA metabolic process, termination of RNA polymerase II transcription, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal complex assembly, 33 19 34 64 46 75 45 32 39 ENSG00000182010 chr10 62183035 62268707 - RTKN2 protein_coding 219790 GO:0005886, GO:0005737, GO:0005634, plasma membrane, cytoplasm, nucleus, GO:2001243, GO:1901224, GO:0051092, GO:0030097, GO:0008284, GO:0007165, negative regulation of intrinsic apoptotic signaling pathway, positive regulation of NIK/NF-kappaB signaling, positive regulation of NF-kappaB transcription factor activity, hemopoiesis, positive regulation of cell population proliferation, signal transduction, 18 6 14 38 11 21 13 8 14 ENSG00000182013 chr19 46466491 46471563 - PNMA8A protein_coding 55228 0 0 0 0 0 0 0 0 0 ENSG00000182021 chr9 63111255 63127100 - AL591379.1 transcribed_unprocessed_pseudogene 100996643 0 0 0 0 0 0 0 0 0 ENSG00000182022 chr10 124007666 124093607 - CHST15 protein_coding Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]. 51363 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0050659, GO:0050659, GO:0050659, GO:0050656, GO:0005515, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity, 3'-phosphoadenosine 5'-phosphosulfate binding, protein binding, GO:0030206, GO:0019319, GO:0019319, chondroitin sulfate biosynthetic process, hexose biosynthetic process, hexose biosynthetic process, 7029 7172 10451 4753 6954 7699 5440 5152 6523 ENSG00000182035 chr20 38581195 38588463 + ADIG protein_coding ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008]. 149685 GO:0016021, GO:0005811, GO:0005737, GO:0005737, GO:0005634, GO:0005634, integral component of membrane, lipid droplet, cytoplasm, cytoplasm, nucleus, nucleus, GO:0050873, GO:0050873, GO:0050872, GO:0050872, GO:0045600, GO:0007283, brown fat cell differentiation, brown fat cell differentiation, white fat cell differentiation, white fat cell differentiation, positive regulation of fat cell differentiation, spermatogenesis, 0 0 0 0 1 0 0 0 0 ENSG00000182040 chr17 74916084 74923256 - USH1G protein_coding This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 124590 GO:0036064, GO:0032391, GO:0015629, GO:0005886, GO:0005829, GO:0001917, ciliary basal body, photoreceptor connecting cilium, actin cytoskeleton, plasma membrane, cytosol, photoreceptor inner segment, GO:0042802, GO:0030507, GO:0005515, identical protein binding, spectrin binding, protein binding, GO:0060122, GO:0050957, GO:0050953, GO:0045494, GO:0042472, GO:0007605, inner ear receptor cell stereocilium organization, equilibrioception, sensory perception of light stimulus, photoreceptor cell maintenance, inner ear morphogenesis, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000182048 chr11 3609901 3637559 + TRPC2 transcribed_unprocessed_pseudogene 7221 1 0 0 0 0 0 1 0 0 ENSG00000182050 chr12 85955666 86838904 - MGAT4C protein_coding 25834 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0046872, GO:0008454, GO:0008375, metal ion binding, alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0006487, protein N-linked glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000182053 chr11 49027501 49038451 + TRIM49B protein_coding 283116 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000182054 chr15 90083045 90102504 - IDH2 protein_coding Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 3418 GO:0070062, GO:0005829, GO:0005777, GO:0005759, GO:0005739, GO:0005739, GO:0005739, extracellular exosome, cytosol, peroxisome, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0051287, GO:0004450, GO:0004450, GO:0004450, GO:0000287, NAD binding, isocitrate dehydrogenase (NADP+) activity, isocitrate dehydrogenase (NADP+) activity, isocitrate dehydrogenase (NADP+) activity, magnesium ion binding, GO:1904465, GO:1903976, GO:0060253, GO:0006741, GO:0006739, GO:0006103, GO:0006102, GO:0006102, GO:0006099, GO:0006097, GO:0005975, negative regulation of matrix metallopeptidase secretion, negative regulation of glial cell migration, negative regulation of glial cell proliferation, NADP biosynthetic process, NADP metabolic process, 2-oxoglutarate metabolic process, isocitrate metabolic process, isocitrate metabolic process, tricarboxylic acid cycle, glyoxylate cycle, carbohydrate metabolic process, 126 102 193 155 176 246 199 129 149 ENSG00000182057 chr22 42269753 42275196 + OGFRP1 lincRNA 1 0 2 0 0 6 1 3 1 ENSG00000182070 chr11 5143219 5154757 - OR52A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 23538 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0004984, GO:0004930, GO:0004888, olfactory receptor activity, G protein-coupled receptor activity, transmembrane signaling receptor activity, GO:0050911, GO:0007608, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000182077 chr10 27397121 27414368 - PTCHD3 polymorphic_pseudogene 374308 GO:0097225, GO:0016021, GO:0016020, GO:0005575, sperm midpiece, integral component of membrane, membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0007286, spermatid development, 0 0 0 0 0 0 0 0 0 ENSG00000182083 chr2 240028965 240030456 - OR6B2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 389090 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000182087 chr19 1009648 1021179 - TMEM259 protein_coding 91304 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:1904294, GO:1901215, GO:0034976, positive regulation of ERAD pathway, negative regulation of neuron death, response to endoplasmic reticulum stress, 2059 2151 2525 2859 2891 3247 2859 2255 2590 ENSG00000182093 chr21 39377698 39428528 + WRB protein_coding This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]. 7485 GO:0016021, GO:0005789, GO:0005783, GO:0005634, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleus, GO:0005515, protein binding, GO:0071816, GO:0071599, GO:0050808, GO:0007605, GO:0006620, tail-anchored membrane protein insertion into ER membrane, otic vesicle development, synapse organization, sensory perception of sound, posttranslational protein targeting to endoplasmic reticulum membrane, 40 64 56 73 121 57 78 67 56 ENSG00000182095 chr7 5306790 5425414 - TNRC18 protein_coding 84629 GO:0031965, GO:0005829, GO:0005739, GO:0005654, nuclear membrane, cytosol, mitochondrion, nucleoplasm, GO:0003682, chromatin binding, 3660 4852 5261 2023 3390 3236 2340 2342 2700 ENSG00000182103 chr11 82729941 82733864 - FAM181B protein_coding 220382 0 0 0 0 0 0 0 0 0 ENSG00000182107 chr14 61277370 61281840 - TMEM30B protein_coding 161291 GO:0016021, GO:0005886, GO:0005794, GO:0005783, integral component of membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, GO:0015247, GO:0005515, aminophospholipid flippase activity, protein binding, GO:0140331, GO:0070863, GO:0045332, GO:0015917, aminophospholipid translocation, positive regulation of protein exit from endoplasmic reticulum, phospholipid translocation, aminophospholipid transport, 13 1 10 20 0 8 18 0 0 ENSG00000182108 chr16 10928891 10942460 - DEXI protein_coding 28955 GO:0005515, protein binding, 29 41 66 46 29 81 31 28 59 ENSG00000182111 chr7 57450177 57473546 + ZNF716 protein_coding 441234 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000182117 chr15 34341713 34343177 - NOP10 protein_coding This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]. 55505 GO:0090661, GO:0090661, GO:0090661, GO:0072589, GO:0031429, GO:0031429, GO:0031429, GO:0016604, GO:0005732, GO:0005697, GO:0005697, GO:0005654, box H/ACA telomerase RNP complex, box H/ACA telomerase RNP complex, box H/ACA telomerase RNP complex, box H/ACA scaRNP complex, box H/ACA snoRNP complex, box H/ACA snoRNP complex, box H/ACA snoRNP complex, nuclear body, small nucleolar ribonucleoprotein complex, telomerase holoenzyme complex, telomerase holoenzyme complex, nucleoplasm, GO:0070034, GO:0070034, GO:0070034, GO:0034513, GO:0034513, GO:0005515, GO:0003723, telomerase RNA binding, telomerase RNA binding, telomerase RNA binding, box H/ACA snoRNA binding, box H/ACA snoRNA binding, protein binding, RNA binding, GO:1904874, GO:0031120, GO:0031118, GO:0031118, GO:0007004, GO:0007004, GO:0001522, GO:0000454, positive regulation of telomerase RNA localization to Cajal body, snRNA pseudouridine synthesis, rRNA pseudouridine synthesis, rRNA pseudouridine synthesis, telomere maintenance via telomerase, telomere maintenance via telomerase, pseudouridine synthesis, snoRNA guided rRNA pseudouridine synthesis, 1334 1003 1285 537 938 742 706 888 596 ENSG00000182118 chr1 231018958 231040246 - FAM89A protein_coding 375061 2 1 3 4 4 8 2 2 0 ENSG00000182132 chr5 170353487 170736632 + KCNIP1 protein_coding This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]. 30820 GO:0031234, GO:0030425, GO:0008076, GO:0005886, GO:0005737, extrinsic component of cytoplasmic side of plasma membrane, dendrite, voltage-gated potassium channel complex, plasma membrane, cytoplasm, GO:0015459, GO:0005515, GO:0005509, GO:0005267, GO:0005244, potassium channel regulator activity, protein binding, calcium ion binding, potassium channel activity, voltage-gated ion channel activity, GO:1901379, GO:0071805, GO:0061337, regulation of potassium ion transmembrane transport, potassium ion transmembrane transport, cardiac conduction, 0 0 3 0 0 0 0 1 0 ENSG00000182134 chr1 151770107 151791416 - TDRKH protein_coding 11022 GO:0071547, GO:0071546, GO:0005739, piP-body, pi-body, mitochondrion, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0043046, GO:0034587, GO:0031047, GO:0030154, GO:0009566, GO:0007283, GO:0007140, DNA methylation involved in gamete generation, piRNA metabolic process, gene silencing by RNA, cell differentiation, fertilization, spermatogenesis, male meiotic nuclear division, 10 7 13 17 6 34 14 10 13 ENSG00000182141 chr19 21291160 21329425 - ZNF708 protein_coding 7562 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 411 284 429 199 163 219 195 136 151 ENSG00000182149 chr16 71845996 71931199 + IST1 protein_coding This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. 9798 GO:0090543, GO:0070062, GO:0043231, GO:0035578, GO:0030496, GO:0005829, GO:0005813, GO:0005793, GO:0005635, GO:0005576, GO:0000785, Flemming body, extracellular exosome, intracellular membrane-bounded organelle, azurophil granule lumen, midbody, cytosol, centrosome, endoplasmic reticulum-Golgi intermediate compartment, nuclear envelope, extracellular region, chromatin, GO:0090541, GO:0045296, GO:0044877, GO:0019904, GO:0005515, MIT domain binding, cadherin binding, protein-containing complex binding, protein domain specific binding, protein binding, GO:1904903, GO:0061640, GO:0051301, GO:0048672, GO:0046745, GO:0045862, GO:0045184, GO:0043312, GO:0036258, GO:0019076, GO:0015031, GO:0009838, GO:0009838, GO:0008104, GO:0008104, ESCRT III complex disassembly, cytoskeleton-dependent cytokinesis, cell division, positive regulation of collateral sprouting, viral capsid secondary envelopment, positive regulation of proteolysis, establishment of protein localization, neutrophil degranulation, multivesicular body assembly, viral release from host cell, protein transport, abscission, abscission, protein localization, protein localization, 2704 2475 3807 2356 2947 3121 2598 2174 2498 ENSG00000182150 chr9 95875701 96014571 + ERCC6L2 protein_coding This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]. 375748 GO:0032991, GO:0005813, GO:0005739, GO:0005737, GO:0005634, protein-containing complex, centrosome, mitochondrion, cytoplasm, nucleus, GO:0019901, GO:0005524, GO:0005515, GO:0004386, GO:0003677, protein kinase binding, ATP binding, protein binding, helicase activity, DNA binding, GO:0036297, GO:0034614, interstrand cross-link repair, cellular response to reactive oxygen species, 183 125 145 159 106 136 210 89 68 ENSG00000182154 chr9 137551199 137552555 + MRPL41 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008]. 64975 GO:1990904, GO:0005762, GO:0005762, GO:0005743, GO:0005739, ribonucleoprotein complex, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0007049, GO:0006915, GO:0006412, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, cell cycle, apoptotic process, translation, translation, 36 27 36 42 23 54 41 21 21 ENSG00000182156 chr17 79730919 79742222 + ENPP7 protein_coding The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]. 339221 GO:0016020, GO:0005902, GO:0005887, GO:0005886, GO:0005794, membrane, microvillus, integral component of plasma membrane, plasma membrane, Golgi apparatus, GO:0008270, GO:0008081, GO:0005515, GO:0004767, GO:0004767, zinc ion binding, phosphoric diester hydrolase activity, protein binding, sphingomyelin phosphodiesterase activity, sphingomyelin phosphodiesterase activity, GO:2000755, GO:2000304, GO:1904729, GO:0055089, GO:0045797, GO:0044241, GO:0008285, GO:0008156, GO:0006687, GO:0006685, GO:0006684, positive regulation of sphingomyelin catabolic process, positive regulation of ceramide biosynthetic process, regulation of intestinal lipid absorption, fatty acid homeostasis, positive regulation of intestinal cholesterol absorption, lipid digestion, negative regulation of cell population proliferation, negative regulation of DNA replication, glycosphingolipid metabolic process, sphingomyelin catabolic process, sphingomyelin metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000182158 chr7 137874979 138002067 - CREB3L2 protein_coding This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 64764 GO:0097038, GO:0016021, GO:0005789, GO:0005783, GO:0005654, GO:0005634, GO:0000785, GO:0000785, perinuclear endoplasmic reticulum, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, nucleoplasm, nucleus, chromatin, chromatin, GO:0035497, GO:0035497, GO:0001228, GO:0000981, GO:0000981, GO:0000976, cAMP response element binding, cAMP response element binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, transcription regulatory region sequence-specific DNA binding, GO:0051216, GO:0045944, GO:0045893, GO:0034976, GO:0030968, GO:0010976, GO:0009611, GO:0006888, GO:0006357, GO:0002062, cartilage development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, response to endoplasmic reticulum stress, endoplasmic reticulum unfolded protein response, positive regulation of neuron projection development, response to wounding, endoplasmic reticulum to Golgi vesicle-mediated transport, regulation of transcription by RNA polymerase II, chondrocyte differentiation, 105 145 133 140 151 195 163 89 116 ENSG00000182162 chrX 1462572 1537107 - P2RY8 protein_coding The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq, Jul 2008]. 286530 GO:0005887, integral component of plasma membrane, GO:0045028, GO:0004930, G protein-coupled purinergic nucleotide receptor activity, G protein-coupled receptor activity, GO:0051482, GO:0035589, GO:0035025, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, G protein-coupled purinergic nucleotide receptor signaling pathway, positive regulation of Rho protein signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000182165 chr7 87325225 87345515 - TP53TG1 lincRNA 8 8 9 11 2 22 12 14 7 ENSG00000182168 chr4 95162504 95549206 - UNC5C protein_coding This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]. 8633 GO:0045202, GO:0043025, GO:0030426, GO:0030425, GO:0030175, GO:0030027, GO:0016021, GO:0009986, GO:0005886, synapse, neuronal cell body, growth cone, dendrite, filopodium, lamellipodium, integral component of membrane, cell surface, plasma membrane, GO:0019901, GO:0015631, GO:0005515, GO:0005043, GO:0005042, protein kinase binding, tubulin binding, protein binding, netrin receptor activity involved in chemorepulsion, netrin receptor activity, GO:1990791, GO:0061643, GO:0043065, GO:0038007, GO:0033564, GO:0030334, GO:0007420, GO:0007411, GO:0006915, dorsal root ganglion development, chemorepulsion of axon, positive regulation of apoptotic process, netrin-activated signaling pathway, anterior/posterior axon guidance, regulation of cell migration, brain development, axon guidance, apoptotic process, 0 0 0 0 0 0 2 2 0 ENSG00000182170 chr11 3217944 3218813 - MRGPRG protein_coding 386746 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000182173 chr17 75516060 75524739 + TSEN54 protein_coding This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]. 283989 GO:0005730, GO:0005654, GO:0000214, nucleolus, nucleoplasm, tRNA-intron endonuclease complex, GO:0005515, protein binding, GO:0006397, GO:0006388, GO:0006388, GO:0000379, mRNA processing, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA splicing, via endonucleolytic cleavage and ligation, tRNA-type intron splice site recognition and cleavage, 30 47 63 74 28 110 57 25 68 ENSG00000182175 chr15 93035273 93089204 - RGMA protein_coding This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 56963 GO:0031225, GO:0005886, GO:0005783, anchored component of membrane, plasma membrane, endoplasmic reticulum, GO:1990459, GO:0015026, GO:0005515, transferrin receptor binding, coreceptor activity, protein binding, GO:0048681, GO:0045944, GO:0030509, negative regulation of axon regeneration, positive regulation of transcription by RNA polymerase II, BMP signaling pathway, 1 2 6 0 1 6 4 2 3 ENSG00000182177 chr2 236194872 236264409 - ASB18 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]. 401036 GO:0005829, cytosol, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000182179 chr3 49805207 49813946 - UBA7 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]. 7318 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0019782, GO:0019782, GO:0005524, GO:0005515, GO:0004842, ISG15 activating enzyme activity, ISG15 activating enzyme activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0032480, GO:0032446, GO:0032020, GO:0032020, GO:0019941, GO:0016567, GO:0006974, GO:0006464, negative regulation of type I interferon production, protein modification by small protein conjugation, ISG15-protein conjugation, ISG15-protein conjugation, modification-dependent protein catabolic process, protein ubiquitination, cellular response to DNA damage stimulus, cellular protein modification process, 488 546 633 643 722 859 632 552 646 ENSG00000182180 chr10 73248843 73252693 - MRPS16 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008]. 51021 GO:0015935, GO:0005829, GO:0005763, GO:0005763, GO:0005743, GO:0005739, small ribosomal subunit, cytosol, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003735, GO:0003735, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 56 67 91 73 90 91 98 92 72 ENSG00000182183 chr1 52633344 52669683 + SHISAL2A protein_coding 348378 GO:0016021, integral component of membrane, GO:0005515, protein binding, 8 8 9 28 10 37 30 10 28 ENSG00000182185 chr14 67819779 68730218 + RAD51B protein_coding The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]. 5890 GO:0033063, GO:0033063, GO:0005657, GO:0005657, GO:0005654, GO:0005634, Rad51B-Rad51C-Rad51D-XRCC2 complex, Rad51B-Rad51C-Rad51D-XRCC2 complex, replication fork, replication fork, nucleoplasm, nucleus, GO:0008094, GO:0008094, GO:0005524, GO:0005515, GO:0003697, GO:0003697, GO:0003690, GO:0003690, GO:0003677, GO:0000400, GO:0000400, DNA-dependent ATPase activity, DNA-dependent ATPase activity, ATP binding, protein binding, single-stranded DNA binding, single-stranded DNA binding, double-stranded DNA binding, double-stranded DNA binding, DNA binding, four-way junction DNA binding, four-way junction DNA binding, GO:0010971, GO:0007596, GO:0007131, GO:0006310, GO:0006281, GO:0000724, GO:0000724, positive regulation of G2/M transition of mitotic cell cycle, blood coagulation, reciprocal meiotic recombination, DNA recombination, DNA repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 27 7 28 18 12 19 22 14 25 ENSG00000182187 chr2 208142573 208146168 - CRYGB protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]. 1419 GO:0005737, GO:0005634, GO:0005575, cytoplasm, nucleus, cellular_component, GO:0005212, GO:0005212, structural constituent of eye lens, structural constituent of eye lens, GO:0070309, GO:0007601, GO:0007601, GO:0002088, lens fiber cell morphogenesis, visual perception, visual perception, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000182195 chrX 141175745 141177125 - LDOC1 protein_coding The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008]. 23641 GO:0005730, GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0005515, protein binding, GO:1903547, GO:0071225, GO:0071222, GO:0060137, GO:0008285, GO:0001893, regulation of growth hormone activity, cellular response to muramyl dipeptide, cellular response to lipopolysaccharide, maternal process involved in parturition, negative regulation of cell population proliferation, maternal placenta development, 1 0 6 0 4 2 2 10 0 ENSG00000182196 chr12 122980060 122982913 + ARL6IP4 protein_coding 51329 GO:0016607, GO:0005730, GO:0005634, nuclear speck, nucleolus, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 1 0 1 0 0 0 0 3 0 ENSG00000182197 chr8 117794490 118111853 - EXT1 protein_coding This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]. 2131 GO:0045202, GO:0030176, GO:0016021, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0000139, synapse, integral component of endoplasmic reticulum membrane, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0050509, GO:0050509, GO:0050508, GO:0050508, GO:0046982, GO:0046872, GO:0042803, GO:0042328, GO:0016757, GO:0016757, GO:0015020, GO:0015020, GO:0008375, GO:0008375, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, protein heterodimerization activity, metal ion binding, protein homodimerization activity, heparan sulfate N-acetylglucosaminyltransferase activity, transferase activity, transferring glycosyl groups, transferase activity, transferring glycosyl groups, glucuronosyltransferase activity, glucuronosyltransferase activity, acetylglucosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:1990823, GO:0120193, GO:0072498, GO:0072112, GO:0071711, GO:0071625, GO:0061974, GO:0061744, GO:0060560, GO:0060070, GO:0060047, GO:0055078, GO:0050891, GO:0045165, GO:0042596, GO:0042311, GO:0042060, GO:0042044, GO:0035249, GO:0035176, GO:0033692, GO:0032836, GO:0030210, GO:0030199, GO:0021772, GO:0017145, GO:0015014, GO:0015012, GO:0015012, GO:0010467, GO:0009642, GO:0009615, GO:0008543, GO:0008283, GO:0008217, GO:0007498, GO:0007492, GO:0007411, GO:0007369, GO:0007224, GO:0007165, GO:0007155, GO:0007033, GO:0006486, GO:0006024, GO:0006024, GO:0003416, GO:0002062, GO:0001503, GO:0001501, response to leukemia inhibitory factor, tight junction organization, embryonic skeletal joint development, glomerular visceral epithelial cell differentiation, basement membrane organization, vocalization behavior, perichondral bone morphogenesis, motor behavior, developmental growth involved in morphogenesis, canonical Wnt signaling pathway, heart contraction, sodium ion homeostasis, multicellular organismal water homeostasis, cell fate commitment, fear response, vasodilation, wound healing, fluid transport, synaptic transmission, glutamatergic, social behavior, cellular polysaccharide biosynthetic process, glomerular basement membrane development, heparin biosynthetic process, collagen fibril organization, olfactory bulb development, stem cell division, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, gene expression, response to light intensity, response to virus, fibroblast growth factor receptor signaling pathway, cell population proliferation, regulation of blood pressure, mesoderm development, endoderm development, axon guidance, gastrulation, smoothened signaling pathway, signal transduction, cell adhesion, vacuole organization, protein glycosylation, glycosaminoglycan biosynthetic process, glycosaminoglycan biosynthetic process, endochondral bone growth, chondrocyte differentiation, ossification, skeletal system development, 117 57 102 106 61 101 121 55 79 ENSG00000182199 chr12 57229327 57234935 + SHMT2 protein_coding This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 6472 GO:0070552, GO:0070552, GO:0070062, GO:0042645, GO:0015630, GO:0005829, GO:0005759, GO:0005759, GO:0005758, GO:0005743, GO:0005743, GO:0005743, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0005634, BRISC complex, BRISC complex, extracellular exosome, mitochondrial nucleoid, microtubule cytoskeleton, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, cytoplasm, cytoplasm, nucleus, nucleus, GO:0070905, GO:0050897, GO:0048027, GO:0042803, GO:0030170, GO:0030170, GO:0008732, GO:0008270, GO:0005515, GO:0004372, GO:0004372, GO:0003682, GO:0000900, serine binding, cobalt ion binding, mRNA 5'-UTR binding, protein homodimerization activity, pyridoxal phosphate binding, pyridoxal phosphate binding, L-allo-threonine aldolase activity, zinc ion binding, protein binding, glycine hydroxymethyltransferase activity, glycine hydroxymethyltransferase activity, chromatin binding, translation repressor activity, mRNA regulatory element binding, GO:1903715, GO:0070536, GO:0070129, GO:0051289, GO:0051289, GO:0051262, GO:0046655, GO:0046655, GO:0046653, GO:0046653, GO:0035999, GO:0035999, GO:0034340, GO:0034340, GO:0019264, GO:0017148, GO:0009113, GO:0008284, GO:0006730, GO:0006730, GO:0006565, GO:0006564, GO:0006563, GO:0006544, GO:0002082, GO:0002082, regulation of aerobic respiration, protein K63-linked deubiquitination, regulation of mitochondrial translation, protein homotetramerization, protein homotetramerization, protein tetramerization, folic acid metabolic process, folic acid metabolic process, tetrahydrofolate metabolic process, tetrahydrofolate metabolic process, tetrahydrofolate interconversion, tetrahydrofolate interconversion, response to type I interferon, response to type I interferon, glycine biosynthetic process from serine, negative regulation of translation, purine nucleobase biosynthetic process, positive regulation of cell population proliferation, one-carbon metabolic process, one-carbon metabolic process, L-serine catabolic process, L-serine biosynthetic process, L-serine metabolic process, glycine metabolic process, regulation of oxidative phosphorylation, regulation of oxidative phosphorylation, 34 21 25 56 34 64 37 31 32 ENSG00000182208 chr11 1469457 1501247 - MOB2 protein_coding 81532 GO:0048471, GO:0044306, GO:0005829, GO:0005730, GO:0005654, perinuclear region of cytoplasm, neuron projection terminus, cytosol, nucleolus, nucleoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0030036, GO:0010976, GO:0001934, actin cytoskeleton organization, positive regulation of neuron projection development, positive regulation of protein phosphorylation, 222 219 261 205 283 338 221 273 226 ENSG00000182218 chr14 99645110 99680569 + HHIPL1 protein_coding This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]. 84439 GO:0016020, GO:0005576, GO:0005575, membrane, extracellular region, cellular_component, GO:0005044, GO:0003824, GO:0003674, scavenger receptor activity, catalytic activity, molecular_function, GO:0008150, GO:0006897, biological_process, endocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000182220 chrX 40579372 40606848 + ATP6AP2 protein_coding This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]. 10159 GO:0101003, GO:0070821, GO:0070062, GO:0045211, GO:0044297, GO:0032591, GO:0030424, GO:0016471, GO:0016324, GO:0016021, GO:0009897, GO:0009897, GO:0005886, GO:0005789, GO:0005765, GO:0005764, GO:0000421, ficolin-1-rich granule membrane, tertiary granule membrane, extracellular exosome, postsynaptic membrane, cell body, dendritic spine membrane, axon, vacuolar proton-transporting V-type ATPase complex, apical plasma membrane, integral component of membrane, external side of plasma membrane, external side of plasma membrane, plasma membrane, endoplasmic reticulum membrane, lysosomal membrane, lysosome, autophagosome membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0090263, GO:0060323, GO:0048069, GO:0043408, GO:0043312, GO:0032914, GO:0030177, GO:0030177, GO:0021903, GO:0021626, GO:0007042, GO:0002003, GO:0002003, positive regulation of canonical Wnt signaling pathway, head morphogenesis, eye pigmentation, regulation of MAPK cascade, neutrophil degranulation, positive regulation of transforming growth factor beta1 production, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, rostrocaudal neural tube patterning, central nervous system maturation, lysosomal lumen acidification, angiotensin maturation, angiotensin maturation, 1692 1890 2136 442 1022 742 526 931 571 ENSG00000182223 chr4 48490252 48494389 + ZAR1 protein_coding This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013]. 326340 GO:0005737, cytoplasm, GO:1903231, GO:0005515, mRNA binding involved in posttranscriptional gene silencing, protein binding, GO:0016441, GO:0007275, GO:0006412, posttranscriptional gene silencing, multicellular organism development, translation, 0 0 0 2 0 0 0 0 0 ENSG00000182224 chr17 7857746 7862282 + CYB5D1 protein_coding 124637 GO:0046872, metal ion binding, 43 38 38 152 194 300 194 85 150 ENSG00000182230 chr5 176060689 176116015 + FAM153B protein_coding 202134 3 0 0 4 0 1 0 0 2 ENSG00000182240 chr21 41167801 41282518 + BACE2 protein_coding This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 25825 GO:0031045, GO:0016021, GO:0016020, GO:0005886, GO:0005802, GO:0005794, GO:0005783, GO:0005768, dense core granule, integral component of membrane, membrane, plasma membrane, trans-Golgi network, Golgi apparatus, endoplasmic reticulum, endosome, GO:0005515, GO:0004190, protein binding, aspartic-type endopeptidase activity, GO:0050435, GO:0048143, GO:0042985, GO:0042593, GO:0016486, GO:0006509, GO:0006509, GO:0006509, GO:0006508, amyloid-beta metabolic process, astrocyte activation, negative regulation of amyloid precursor protein biosynthetic process, glucose homeostasis, peptide hormone processing, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, proteolysis, 20 45 59 9 6 8 2 3 0 ENSG00000182247 chr3 23203020 23591793 + UBE2E2 protein_coding 7325 GO:0005634, nucleus, GO:0061631, GO:0061631, GO:0042296, GO:0042296, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ISG15 transferase activity, ISG15 transferase activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:1900087, GO:0070979, GO:0070979, GO:0070936, GO:0070936, GO:0070534, GO:0070534, GO:0032020, GO:0032020, GO:0006974, GO:0000209, positive regulation of G1/S transition of mitotic cell cycle, protein K11-linked ubiquitination, protein K11-linked ubiquitination, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein K63-linked ubiquitination, protein K63-linked ubiquitination, ISG15-protein conjugation, ISG15-protein conjugation, cellular response to DNA damage stimulus, protein polyubiquitination, 1 8 9 0 6 7 4 3 3 ENSG00000182253 chr15 99098217 99135593 + SYNM protein_coding The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 23336 GO:0060053, GO:0060053, GO:0045111, GO:0043034, GO:0043034, GO:0042383, GO:0005912, GO:0005882, GO:0005882, GO:0005882, neurofilament cytoskeleton, neurofilament cytoskeleton, intermediate filament cytoskeleton, costamere, costamere, sarcolemma, adherens junction, intermediate filament, intermediate filament, intermediate filament, GO:0019215, GO:0019215, GO:0017166, GO:0017166, GO:0008307, GO:0008307, GO:0005515, GO:0005200, GO:0005200, intermediate filament binding, intermediate filament binding, vinculin binding, vinculin binding, structural constituent of muscle, structural constituent of muscle, protein binding, structural constituent of cytoskeleton, structural constituent of cytoskeleton, GO:0045104, GO:0031443, intermediate filament cytoskeleton organization, fast-twitch skeletal muscle fiber contraction, 47 10 108 36 5 66 74 11 42 ENSG00000182255 chr11 30009741 30017023 - KCNA4 protein_coding Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]. 3739 GO:0043197, GO:0030424, GO:0030424, GO:0016021, GO:0016021, GO:0008076, GO:0008076, GO:0008076, GO:0005887, GO:0005886, dendritic spine, axon, axon, integral component of membrane, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:0030955, GO:0005515, GO:0005251, GO:0005249, GO:0005249, GO:0005249, potassium ion binding, protein binding, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0071805, GO:0051260, GO:0034765, GO:0006813, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, potassium ion transport, 0 0 0 0 0 2 0 0 0 ENSG00000182256 chr15 26971282 27541991 + GABRG3 protein_coding This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]. 2567 GO:1902711, GO:0099699, GO:0098982, GO:0098794, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0032590, GO:0005887, GO:0005886, GABA-A receptor complex, integral component of synaptic membrane, GABA-ergic synapse, postsynapse, postsynaptic membrane, synapse, neuron projection, chloride channel complex, dendrite membrane, integral component of plasma membrane, plasma membrane, GO:1904315, GO:0030594, GO:0022851, GO:0008503, GO:0005254, GO:0005237, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, GABA-A receptor activity, GO:1902476, GO:0060078, GO:0051932, GO:0050877, GO:0042493, GO:0042391, GO:0034220, GO:0007268, GO:0007214, GO:0007165, chloride transmembrane transport, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, response to drug, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000182257 chr22 46049478 46054144 - PRR34 protein_coding 8 8 14 12 16 19 16 18 15 ENSG00000182261 chr11 7959424 7965426 - NLRP10 protein_coding Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008]. 338322 GO:0019897, GO:0005737, extrinsic component of plasma membrane, cytoplasm, GO:0016887, GO:0005524, GO:0003924, ATPase activity, ATP binding, GTPase activity, GO:2000318, GO:1900426, GO:0050832, GO:0050829, GO:0050729, GO:0045087, GO:0032757, GO:0032755, GO:0032730, GO:0006954, GO:0002827, GO:0002250, positive regulation of T-helper 17 type immune response, positive regulation of defense response to bacterium, defense response to fungus, defense response to Gram-negative bacterium, positive regulation of inflammatory response, innate immune response, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 alpha production, inflammatory response, positive regulation of T-helper 1 type immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000182263 chr2 163593396 163736012 - FIGN protein_coding 55137 GO:0016363, GO:0005874, GO:0005815, GO:0005737, GO:0005634, nuclear matrix, microtubule, microtubule organizing center, cytoplasm, nucleus, GO:0016887, GO:0008568, GO:0008022, GO:0005524, GO:0005515, ATPase activity, microtubule-severing ATPase activity, protein C-terminus binding, ATP binding, protein binding, GO:0051301, GO:0051013, GO:0031122, GO:0007049, cell division, microtubule severing, cytoplasmic microtubule organization, cell cycle, 1 2 0 0 0 0 0 0 5 ENSG00000182264 chr19 48740852 48746909 - IZUMO1 protein_coding The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008]. 284359 GO:0016021, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0002080, GO:0002080, integral component of membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, acrosomal membrane, acrosomal membrane, GO:0086080, GO:0086080, GO:0042803, GO:0005515, GO:0005102, GO:0005102, protein binding involved in heterotypic cell-cell adhesion, protein binding involved in heterotypic cell-cell adhesion, protein homodimerization activity, protein binding, signaling receptor binding, signaling receptor binding, GO:0035036, GO:0035036, GO:0034113, GO:0034113, GO:0007342, GO:0007342, GO:0007342, GO:0007338, GO:0007155, sperm-egg recognition, sperm-egg recognition, heterotypic cell-cell adhesion, heterotypic cell-cell adhesion, fusion of sperm to egg plasma membrane involved in single fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, single fertilization, cell adhesion, 0 0 0 2 0 0 0 0 0 ENSG00000182271 chr17 30316333 30334059 - TMIGD1 protein_coding 388364 GO:0043005, GO:0016021, GO:0005886, GO:0005737, neuron projection, integral component of membrane, plasma membrane, cytoplasm, GO:0090559, GO:0043066, GO:0042127, GO:0030334, regulation of membrane permeability, negative regulation of apoptotic process, regulation of cell population proliferation, regulation of cell migration, 0 0 0 0 0 0 2 0 0 ENSG00000182272 chr11 369796 382116 + B4GALNT4 protein_coding 338707 GO:0032580, GO:0016021, Golgi cisterna membrane, integral component of membrane, GO:0033842, GO:0008376, GO:0008376, N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylgalactosaminyltransferase activity, 3 1 0 3 0 0 1 0 0 ENSG00000182287 chrX 15825806 15854931 - AP1S2 protein_coding Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]. 8905 GO:0043231, GO:0043231, GO:0032588, GO:0030659, GO:0030119, GO:0005905, GO:0005829, GO:0005794, GO:0005765, GO:0000139, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, trans-Golgi network membrane, cytoplasmic vesicle membrane, AP-type membrane coat adaptor complex, clathrin-coated pit, cytosol, Golgi apparatus, lysosomal membrane, Golgi membrane, GO:0005515, protein binding, GO:0050690, GO:0019886, GO:0016192, GO:0006886, regulation of defense response to virus by virus, antigen processing and presentation of exogenous peptide antigen via MHC class II, vesicle-mediated transport, intracellular protein transport, 513 448 973 319 494 752 434 383 494 ENSG00000182307 chr8 145052378 145066685 + C8orf33 protein_coding 65265 GO:0005515, protein binding, 14 16 39 52 28 51 17 18 31 ENSG00000182308 chr4 41981696 41986467 + DCAF4L1 protein_coding 285429 8 12 20 25 39 33 35 21 50 ENSG00000182310 chr19 51689128 51712387 + SPACA6 protein_coding 147650 GO:0016021, GO:0002080, integral component of membrane, acrosomal membrane, GO:0005515, protein binding, GO:0007342, GO:0007342, fusion of sperm to egg plasma membrane involved in single fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, 168 184 105 95 106 77 134 87 124 ENSG00000182315 chr19 7056209 7058640 - MBD3L3 protein_coding 653657 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000182318 chr19 58327019 58342332 + ZSCAN22 protein_coding 342945 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0000981, GO:0000978, metal ion binding, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 17 7 16 8 28 8 22 12 15 ENSG00000182324 chr19 48455509 48466980 + KCNJ14 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]. 3770 GO:0043025, GO:0030425, GO:0008076, GO:0005886, GO:0005886, neuronal cell body, dendrite, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0005242, inward rectifier potassium channel activity, GO:1990573, GO:0061337, GO:0034765, potassium ion import across plasma membrane, cardiac conduction, regulation of ion transmembrane transport, 0 0 0 5 5 9 6 2 7 ENSG00000182325 chr8 144355431 144359376 - FBXL6 protein_coding This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 26233 GO:0019005, GO:0005829, GO:0005634, SCF ubiquitin ligase complex, cytosol, nucleus, GO:0004842, ubiquitin-protein transferase activity, GO:0051726, GO:0043153, GO:0031146, GO:0016567, GO:0006508, GO:0000086, regulation of cell cycle, entrainment of circadian clock by photoperiod, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, proteolysis, G2/M transition of mitotic cell cycle, 39 44 57 41 68 49 44 53 58 ENSG00000182326 chr12 6988259 7071032 + C1S protein_coding This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]. 716 GO:0072562, GO:0005615, GO:0005576, blood microparticle, extracellular space, extracellular region, GO:0042802, GO:0005515, GO:0005509, GO:0004252, GO:0004252, identical protein binding, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0045087, GO:0030449, GO:0006958, GO:0006956, GO:0006508, innate immune response, regulation of complement activation, complement activation, classical pathway, complement activation, proteolysis, 0 6 3 0 1 4 8 1 1 ENSG00000182327 chr17 4788959 4790390 + GLTPD2 protein_coding 388323 GO:0016020, GO:0005829, membrane, cytosol, GO:1902388, GO:1902387, ceramide 1-phosphate transfer activity, ceramide 1-phosphate binding, GO:1902389, GO:0120009, GO:0035627, ceramide 1-phosphate transport, intermembrane lipid transfer, ceramide transport, 1 5 9 0 2 0 0 2 0 ENSG00000182329 chr2 202073289 202205203 + KIAA2012 protein_coding 100652824 0 1 1 2 1 0 0 0 1 ENSG00000182330 chr1 13281035 13285174 - PRAMEF8 protein_coding 391002 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000182333 chr10 88664441 88678814 + LIPF protein_coding This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. 8513 GO:0043231, GO:0005739, GO:0005576, GO:0005575, intracellular membrane-bounded organelle, mitochondrion, extracellular region, cellular_component, GO:0016615, GO:0008289, GO:0004806, GO:0004806, malate dehydrogenase activity, lipid binding, triglyceride lipase activity, triglyceride lipase activity, GO:0055114, GO:0016042, GO:0006641, GO:0006108, oxidation-reduction process, lipid catabolic process, triglyceride metabolic process, malate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000182334 chr11 7824818 7830840 - OR5P3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 120066 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000182346 chr13 105465867 105491034 + DAOA protein_coding This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]. 267012 GO:0048471, GO:0005794, GO:0005739, perinuclear region of cytoplasm, Golgi apparatus, mitochondrion, GO:0019899, GO:0008047, enzyme binding, enzyme activator activity, GO:1900758, GO:0043085, negative regulation of D-amino-acid oxidase activity, positive regulation of catalytic activity, 0 0 0 0 0 0 0 0 0 ENSG00000182347 chr9 5084999 5086112 - PDSS1P1 processed_pseudogene 1 1 4 2 2 0 0 0 1 ENSG00000182348 chr7 88759368 89337057 + ZNF804B protein_coding 219578 GO:0005634, nucleus, GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000182351 chr22 24712292 24712520 + CRIP1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182352 chr17 74584679 74594209 + C17orf77 antisense 146723 GO:0005576, extracellular region, 13 0 3 3 2 0 1 0 0 ENSG00000182359 chr11 106051098 106077765 - KBTBD3 protein_coding 143879 17 10 21 5 15 15 24 9 25 ENSG00000182362 chr21 46286337 46297751 + YBEY protein_coding This gene encodes a highly conserved metalloprotein. A similar protein in bacteria acts as an endoribonuclease, and is thought to function in ribosomal RNA maturation and ribosome assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 54059 GO:0005634, nucleus, GO:0046872, GO:0004521, GO:0004222, metal ion binding, endoribonuclease activity, metalloendopeptidase activity, GO:0090502, GO:0006508, GO:0006364, RNA phosphodiester bond hydrolysis, endonucleolytic, proteolysis, rRNA processing, 16 8 24 28 25 40 33 23 39 ENSG00000182365 chr11 56015017 56015957 - OR5F2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182366 chr8 375931 383174 - FAM87A lincRNA 157693 GO:0016021, integral component of membrane, 0 0 4 0 3 0 0 0 1 ENSG00000182372 chr8 1755778 1801711 + CLN8 protein_coding This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]. 2055 GO:0098793, GO:0033116, GO:0016021, GO:0005793, GO:0005789, GO:0005783, GO:0005783, GO:0005739, presynapse, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, mitochondrion, GO:0097001, GO:0097001, GO:0005515, ceramide binding, ceramide binding, protein binding, GO:0060052, GO:0060041, GO:0055088, GO:0051935, GO:0050885, GO:0050884, GO:0050881, GO:0046513, GO:0045861, GO:0045494, GO:0044257, GO:0043066, GO:0035176, GO:0030163, GO:0021523, GO:0008610, GO:0008361, GO:0008306, GO:0008203, GO:0007628, GO:0007601, GO:0007399, GO:0007399, GO:0007040, GO:0007006, GO:0006869, GO:0006672, GO:0006644, GO:0006644, GO:0001306, neurofilament cytoskeleton organization, retina development in camera-type eye, lipid homeostasis, glutamate reuptake, neuromuscular process controlling balance, neuromuscular process controlling posture, musculoskeletal movement, ceramide biosynthetic process, negative regulation of proteolysis, photoreceptor cell maintenance, cellular protein catabolic process, negative regulation of apoptotic process, social behavior, protein catabolic process, somatic motor neuron differentiation, lipid biosynthetic process, regulation of cell size, associative learning, cholesterol metabolic process, adult walking behavior, visual perception, nervous system development, nervous system development, lysosome organization, mitochondrial membrane organization, lipid transport, ceramide metabolic process, phospholipid metabolic process, phospholipid metabolic process, age-dependent response to oxidative stress, 0 0 0 0 0 0 0 0 0 ENSG00000182376 chr16 88742767 88745748 + AC138028.1 antisense 339059 0 0 0 0 0 0 0 0 0 ENSG00000182378 chrX 276322 303356 + PLCXD1 protein_coding This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 55344 GO:0005737, cytoplasm, GO:0008081, phosphoric diester hydrolase activity, GO:0006629, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000182379 chr12 57216795 57226449 + NXPH4 protein_coding 11247 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005102, GO:0003674, signaling receptor binding, molecular_function, GO:0007218, neuropeptide signaling pathway, 0 0 3 2 3 1 0 0 0 ENSG00000182383 chr5 74990189 74990637 - RPL27AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182389 chr2 151832768 152099475 - CACNB4 protein_coding This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]. 785 GO:0045202, GO:0009898, GO:0005891, GO:0005891, GO:0005886, GO:0005829, synapse, cytoplasmic side of plasma membrane, voltage-gated calcium channel complex, voltage-gated calcium channel complex, plasma membrane, cytosol, GO:0008331, GO:0005515, GO:0005245, high voltage-gated calcium channel activity, protein binding, voltage-gated calcium channel activity, GO:1901385, GO:1901385, GO:0070588, GO:0061337, GO:0051899, GO:0007528, GO:0007268, regulation of voltage-gated calcium channel activity, regulation of voltage-gated calcium channel activity, calcium ion transmembrane transport, cardiac conduction, membrane depolarization, neuromuscular junction development, chemical synaptic transmission, 505 591 535 314 646 519 416 470 450 ENSG00000182393 chr19 39296325 39298673 + IFNL1 protein_coding This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]. 282618 GO:0032002, GO:0005615, GO:0005576, GO:0005576, interleukin-28 receptor complex, extracellular space, extracellular region, extracellular region, GO:0032003, GO:0005125, GO:0005102, GO:0005102, interleukin-28 receptor binding, cytokine activity, signaling receptor binding, signaling receptor binding, GO:0051607, GO:0051607, GO:0050778, GO:0046427, GO:0045893, GO:0045892, GO:0045581, GO:0045345, GO:0045087, GO:0043381, GO:0042531, GO:0032729, GO:0032714, GO:0032696, GO:0019221, GO:0008285, GO:0007259, GO:0002829, defense response to virus, defense response to virus, positive regulation of immune response, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of T cell differentiation, positive regulation of MHC class I biosynthetic process, innate immune response, negative regulation of memory T cell differentiation, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of interferon-gamma production, negative regulation of interleukin-5 production, negative regulation of interleukin-13 production, cytokine-mediated signaling pathway, negative regulation of cell population proliferation, receptor signaling pathway via JAK-STAT, negative regulation of type 2 immune response, 5 2 1 7 10 5 5 1 0 ENSG00000182397 chr15 99790156 99806927 - DNM1P46 transcribed_unprocessed_pseudogene 196968 GO:0003924, GTPase activity, 9 1 2 19 0 1 14 4 0 ENSG00000182400 chr14 39147811 39170532 - TRAPPC6B protein_coding TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]. 122553 GO:0030008, GO:0005829, GO:0005802, GO:0005801, GO:0005783, GO:0000139, TRAPP complex, cytosol, trans-Golgi network, cis-Golgi network, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:0048208, GO:0043087, GO:0007399, GO:0006888, COPII vesicle coating, regulation of GTPase activity, nervous system development, endoplasmic reticulum to Golgi vesicle-mediated transport, 254 252 318 258 196 252 239 165 180 ENSG00000182405 chr15 34102073 34108684 + PGBD4 protein_coding The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, Jul 2008]. 161779 26 15 50 59 26 92 25 14 59 ENSG00000182415 chrY 18025787 18028597 + CDY2A protein_coding This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]. 9426 GO:0005634, nucleus, GO:0004402, GO:0003714, histone acetyltransferase activity, transcription corepressor activity, GO:1903507, GO:0016573, GO:0007283, negative regulation of nucleic acid-templated transcription, histone acetylation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000182446 chr17 81556887 81648465 - NPLOC4 protein_coding 55666 GO:0042175, GO:0036501, GO:0034098, GO:0034098, GO:0005829, GO:0005783, GO:0005654, GO:0005634, GO:0005634, nuclear outer membrane-endoplasmic reticulum membrane network, UFD1-NPL4 complex, VCP-NPL4-UFD1 AAA ATPase complex, VCP-NPL4-UFD1 AAA ATPase complex, cytosol, endoplasmic reticulum, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0043130, GO:0031625, GO:0005515, metal ion binding, ubiquitin binding, ubiquitin protein ligase binding, protein binding, GO:0070987, GO:0039536, GO:0032480, GO:0030970, GO:0030433, GO:0007030, GO:0006511, GO:0006511, error-free translesion synthesis, negative regulation of RIG-I signaling pathway, negative regulation of type I interferon production, retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, Golgi organization, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 782 857 920 644 892 876 767 708 748 ENSG00000182447 chr3 161496808 161503942 + OTOL1 protein_coding This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017]. 131149 GO:0031012, GO:0005615, GO:0005587, GO:0005576, extracellular matrix, extracellular space, collagen type IV trimer, extracellular region, GO:0005509, GO:0005201, calcium ion binding, extracellular matrix structural constituent, GO:0051260, GO:0045299, GO:0038063, GO:0030198, protein homooligomerization, otolith mineralization, collagen-activated tyrosine kinase receptor signaling pathway, extracellular matrix organization, 0 0 0 0 0 0 0 0 0 ENSG00000182450 chr11 64291302 64300031 + KCNK4 protein_coding This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]. 50801 GO:0034705, GO:0005887, GO:0005887, GO:0005887, GO:0005886, potassium channel complex, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0098782, GO:0097604, GO:0022841, GO:0005267, GO:0005244, mechanosensitived potassium channel activity, temperature-gated cation channel activity, potassium ion leak channel activity, potassium channel activity, voltage-gated ion channel activity, GO:0071805, GO:0071805, GO:0071502, GO:0071469, GO:0071398, GO:0071260, GO:0050976, GO:0050951, GO:0034765, GO:0030322, GO:0019233, GO:0007613, GO:0006813, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to temperature stimulus, cellular response to alkaline pH, cellular response to fatty acid, cellular response to mechanical stimulus, detection of mechanical stimulus involved in sensory perception of touch, sensory perception of temperature stimulus, regulation of ion transmembrane transport, stabilization of membrane potential, sensory perception of pain, memory, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000182459 chr17 82359247 82363776 + TEX19 protein_coding 400629 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0034584, GO:0005515, piRNA binding, protein binding, GO:0030154, GO:0010529, GO:0010529, GO:0008584, GO:0007283, GO:0007283, GO:0007140, GO:0007131, GO:0001890, cell differentiation, negative regulation of transposition, negative regulation of transposition, male gonad development, spermatogenesis, spermatogenesis, male meiotic nuclear division, reciprocal meiotic recombination, placenta development, 0 0 0 0 0 0 0 0 0 ENSG00000182463 chr20 52972407 53495330 + TSHZ2 protein_coding This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 128553 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003677, GO:0003677, GO:0000981, GO:0000981, metal ion binding, protein binding, DNA binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0007275, GO:0006357, multicellular organism development, regulation of transcription by RNA polymerase II, 18 4 16 63 7 52 64 6 31 ENSG00000182472 chr19 38730187 38769904 - CAPN12 protein_coding The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]. 147968 GO:0005737, cytoplasm, GO:0005509, GO:0004198, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, GO:0006508, proteolysis, 252 259 313 182 314 300 218 281 325 ENSG00000182473 chr17 76081017 76121576 - EXOC7 protein_coding The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]. 23265 GO:0090543, GO:0034451, GO:0032584, GO:0016020, GO:0005886, GO:0005829, GO:0005815, GO:0000145, Flemming body, centriolar satellite, growth cone membrane, membrane, plasma membrane, cytosol, microtubule organizing center, exocyst, GO:0005515, protein binding, GO:2000535, GO:0016241, GO:0015031, GO:0006887, regulation of entry of bacterium into host cell, regulation of macroautophagy, protein transport, exocytosis, 816 946 1010 859 979 945 835 827 817 ENSG00000182477 chr6 28053228 28054165 - OR2B8P unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000182481 chr17 68035519 68046842 + KPNA2 protein_coding The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 3838 GO:0098978, GO:0098978, GO:0098892, GO:0043657, GO:0016020, GO:0005829, GO:0005829, GO:0005789, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0000139, glutamatergic synapse, glutamatergic synapse, extrinsic component of postsynaptic specialization membrane, host cell, membrane, cytosol, cytosol, endoplasmic reticulum membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, Golgi membrane, GO:0061608, GO:0042826, GO:0008139, GO:0008139, GO:0005515, GO:0003723, nuclear import signal receptor activity, histone deacetylase binding, nuclear localization sequence binding, nuclear localization sequence binding, protein binding, RNA binding, GO:1903902, GO:0099527, GO:0099527, GO:0075506, GO:0019054, GO:0006607, GO:0006607, GO:0006259, GO:0000018, positive regulation of viral life cycle, postsynapse to nucleus signaling pathway, postsynapse to nucleus signaling pathway, entry of viral genome into host nucleus through nuclear pore complex via importin, modulation by virus of host cellular process, NLS-bearing protein import into nucleus, NLS-bearing protein import into nucleus, DNA metabolic process, regulation of DNA recombination, 33 26 74 109 43 155 81 38 80 ENSG00000182484 chrX 156020826 156025710 + WASH6P transcribed_unprocessed_pseudogene 26 8 5 15 14 5 8 21 19 ENSG00000182487 chr7 73220624 73235945 + NCF1B transcribed_unprocessed_pseudogene 654816 GO:0005737, cytoplasm, GO:0043325, GO:0032266, GO:0016176, GO:0016175, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, superoxide-generating NADPH oxidase activator activity, superoxide-generating NAD(P)H oxidase activity, GO:0055114, GO:0045730, GO:0043085, GO:0006801, oxidation-reduction process, respiratory burst, positive regulation of catalytic activity, superoxide metabolic process, 2371 2768 5239 1639 3465 2535 1825 2626 2300 ENSG00000182489 chrX 100913445 100929433 - XKRX protein_coding This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]. 402415 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 0 0 1 1 2 0 1 2 6 ENSG00000182492 chrX 153494939 153509554 + BGN protein_coding This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]. 633 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0043202, GO:0042383, GO:0031012, GO:0030133, GO:0009986, GO:0005796, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, sarcolemma, extracellular matrix, transport vesicle, cell surface, Golgi lumen, extracellular space, extracellular region, extracellular region, GO:0050840, GO:0030021, GO:0030021, GO:0005539, GO:0005515, GO:0005201, extracellular matrix binding, extracellular matrix structural constituent conferring compression resistance, extracellular matrix structural constituent conferring compression resistance, glycosaminoglycan binding, protein binding, extracellular matrix structural constituent, GO:0030208, GO:0030207, GO:0030206, GO:0030198, GO:0019800, GO:0008150, GO:0001974, dermatan sulfate biosynthetic process, chondroitin sulfate catabolic process, chondroitin sulfate biosynthetic process, extracellular matrix organization, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, biological_process, blood vessel remodeling, 0 0 0 0 0 0 0 0 0 ENSG00000182504 chr3 101723925 101770562 + CEP97 protein_coding 79598 GO:0034451, GO:0032991, GO:0005829, GO:0005829, GO:0005813, centriolar satellite, protein-containing complex, cytosol, cytosol, centrosome, GO:0005516, GO:0005515, calmodulin binding, protein binding, GO:1902018, GO:1901673, GO:0097711, negative regulation of cilium assembly, regulation of mitotic spindle assembly, ciliary basal body-plasma membrane docking, 60 85 69 86 69 80 73 69 113 ENSG00000182508 chrX 112630648 112680054 - LHFPL1 protein_coding This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 340596 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0005515, protein binding, 0 0 2 4 0 0 0 0 0 ENSG00000182511 chr15 90883695 90895776 + FES protein_coding This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]. 2242 GO:0031410, GO:0031234, GO:0031234, GO:0015630, GO:0005925, GO:0005829, GO:0005794, GO:0005737, cytoplasmic vesicle, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, microtubule cytoskeleton, focal adhesion, cytosol, Golgi apparatus, cytoplasm, GO:0035091, GO:0034987, GO:0008017, GO:0005524, GO:0005515, GO:0005102, GO:0004715, GO:0004715, GO:0004713, GO:0004713, phosphatidylinositol binding, immunoglobulin receptor binding, microtubule binding, ATP binding, protein binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2000251, GO:2000145, GO:0071305, GO:0060627, GO:0046777, GO:0045657, GO:0045639, GO:0045595, GO:0045087, GO:0043304, GO:0043304, GO:0042127, GO:0042127, GO:0038083, GO:0031116, GO:0030155, GO:0030154, GO:0018108, GO:0010976, GO:0008360, GO:0007169, GO:0007155, GO:0007098, GO:0006935, GO:0001578, positive regulation of actin cytoskeleton reorganization, regulation of cell motility, cellular response to vitamin D, regulation of vesicle-mediated transport, protein autophosphorylation, positive regulation of monocyte differentiation, positive regulation of myeloid cell differentiation, regulation of cell differentiation, innate immune response, regulation of mast cell degranulation, regulation of mast cell degranulation, regulation of cell population proliferation, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, positive regulation of microtubule polymerization, regulation of cell adhesion, cell differentiation, peptidyl-tyrosine phosphorylation, positive regulation of neuron projection development, regulation of cell shape, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, centrosome cycle, chemotaxis, microtubule bundle formation, 772 931 974 597 1168 906 682 849 788 ENSG00000182512 chr14 95533503 95544724 + GLRX5 protein_coding This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]. 51218 GO:0043025, GO:0030425, GO:0005759, GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005634, neuronal cell body, dendrite, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, nucleus, GO:0051537, GO:0046872, GO:0015035, GO:0009055, GO:0005515, 2 iron, 2 sulfur cluster binding, metal ion binding, protein disulfide oxidoreductase activity, electron transfer activity, protein binding, GO:0106035, GO:0106034, GO:0044571, GO:0044281, GO:0030097, GO:0022900, protein maturation by [4Fe-4S] cluster transfer, protein maturation by [2Fe-2S] cluster transfer, [2Fe-2S] cluster assembly, small molecule metabolic process, hemopoiesis, electron transport chain, 79 71 62 65 60 65 37 82 41 ENSG00000182518 chrX 55143102 55161310 - FAM104B protein_coding 90736 14 6 10 5 7 9 3 15 10 ENSG00000182521 chr14 55413541 55456726 - TBPL2 protein_coding 387332 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:0140223, GO:0016251, GO:0003677, general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, DNA binding, GO:0007275, GO:0006366, GO:0006352, multicellular organism development, transcription by RNA polymerase II, DNA-templated transcription, initiation, 0 0 0 0 0 0 1 0 0 ENSG00000182531 chr10 15007861 15008884 - OR7E115P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182533 chr3 8733800 8841808 + CAV3 protein_coding This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]. 859 GO:0045121, GO:0043231, GO:0042383, GO:0031982, GO:0031594, GO:0030315, GO:0030018, GO:0016010, GO:0014704, GO:0009986, GO:0005925, GO:0005901, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005783, GO:0000139, membrane raft, intracellular membrane-bounded organelle, sarcolemma, vesicle, neuromuscular junction, T-tubule, Z disc, dystrophin-associated glycoprotein complex, intercalated disc, cell surface, focal adhesion, caveola, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, Golgi membrane, GO:0071253, GO:0071253, GO:0060090, GO:0060090, GO:0050998, GO:0044877, GO:0044325, GO:0044325, GO:0043014, GO:0019870, GO:0017080, GO:0017080, GO:0008022, GO:0005515, GO:0005246, connexin binding, connexin binding, molecular adaptor activity, molecular adaptor activity, nitric-oxide synthase binding, protein-containing complex binding, ion channel binding, ion channel binding, alpha-tubulin binding, potassium channel inhibitor activity, sodium channel regulator activity, sodium channel regulator activity, protein C-terminus binding, protein binding, calcium channel regulator activity, GO:2001288, GO:2000649, GO:2000060, GO:2000009, GO:1901380, GO:1901019, GO:1901017, GO:1900826, GO:1900825, GO:1900825, GO:1900744, GO:0098909, GO:0090279, GO:0086005, GO:0072659, GO:0071417, GO:0070836, GO:0070836, GO:0061052, GO:0060762, GO:0060373, GO:0060347, GO:0060307, GO:0060299, GO:0055117, GO:0055013, GO:0051926, GO:0051896, GO:0051647, GO:0051480, GO:0051394, GO:0051001, GO:0046716, GO:0045792, GO:0043409, GO:0043407, GO:0042632, GO:0042593, GO:0042391, GO:0042391, GO:0038009, GO:0035995, GO:0033292, GO:0031579, GO:0031122, GO:0031116, GO:0030154, GO:0030154, GO:0017015, GO:0014819, GO:0010831, GO:0010614, GO:0008284, GO:0008104, GO:0008016, GO:0007520, GO:0007517, GO:0007204, GO:0007015, GO:0007009, GO:0006936, GO:0006897, GO:0006641, GO:0006469, GO:0002027, GO:0001778, positive regulation of caveolin-mediated endocytosis, regulation of sodium ion transmembrane transporter activity, positive regulation of ubiquitin-dependent protein catabolic process, negative regulation of protein localization to cell surface, negative regulation of potassium ion transmembrane transport, regulation of calcium ion transmembrane transporter activity, negative regulation of potassium ion transmembrane transporter activity, negative regulation of membrane depolarization during cardiac muscle cell action potential, regulation of membrane depolarization during cardiac muscle cell action potential, regulation of membrane depolarization during cardiac muscle cell action potential, regulation of p38MAPK cascade, regulation of cardiac muscle cell action potential involved in regulation of contraction, regulation of calcium ion import, ventricular cardiac muscle cell action potential, protein localization to plasma membrane, cellular response to organonitrogen compound, caveola assembly, caveola assembly, negative regulation of cell growth involved in cardiac muscle cell development, regulation of branching involved in mammary gland duct morphogenesis, regulation of ventricular cardiac muscle cell membrane depolarization, heart trabecula formation, regulation of ventricular cardiac muscle cell membrane repolarization, negative regulation of sarcomere organization, regulation of cardiac muscle contraction, cardiac muscle cell development, negative regulation of calcium ion transport, regulation of protein kinase B signaling, nucleus localization, regulation of cytosolic calcium ion concentration, regulation of nerve growth factor receptor activity, negative regulation of nitric-oxide synthase activity, muscle cell cellular homeostasis, negative regulation of cell size, negative regulation of MAPK cascade, negative regulation of MAP kinase activity, cholesterol homeostasis, glucose homeostasis, regulation of membrane potential, regulation of membrane potential, regulation of signal transduction by receptor internalization, detection of muscle stretch, T-tubule organization, membrane raft organization, cytoplasmic microtubule organization, positive regulation of microtubule polymerization, cell differentiation, cell differentiation, regulation of transforming growth factor beta receptor signaling pathway, regulation of skeletal muscle contraction, positive regulation of myotube differentiation, negative regulation of cardiac muscle hypertrophy, positive regulation of cell population proliferation, protein localization, regulation of heart contraction, myoblast fusion, muscle organ development, positive regulation of cytosolic calcium ion concentration, actin filament organization, plasma membrane organization, muscle contraction, endocytosis, triglyceride metabolic process, negative regulation of protein kinase activity, regulation of heart rate, plasma membrane repair, 0 0 0 0 0 0 0 0 0 ENSG00000182534 chr17 76672551 76711016 - MXRA7 protein_coding 439921 GO:0062023, GO:0016021, GO:0005783, collagen-containing extracellular matrix, integral component of membrane, endoplasmic reticulum, 271 17 366 79 29 168 136 12 149 ENSG00000182541 chr22 31212239 31280080 + LIMK2 protein_coding There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3985 GO:0072686, GO:0005813, GO:0005737, GO:0005737, GO:0005634, GO:0005634, mitotic spindle, centrosome, cytoplasm, cytoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0046872, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1902018, GO:1900182, GO:0061303, GO:0060322, GO:0051650, GO:0030953, GO:0030036, GO:0016310, GO:0007283, GO:0006468, GO:0001934, negative regulation of cilium assembly, positive regulation of protein localization to nucleus, cornea development in camera-type eye, head development, establishment of vesicle localization, astral microtubule organization, actin cytoskeleton organization, phosphorylation, spermatogenesis, protein phosphorylation, positive regulation of protein phosphorylation, 12480 7916 23768 5720 6090 9348 6650 4292 7353 ENSG00000182544 chr12 53251251 53254405 + MFSD5 protein_coding 84975 GO:0016021, GO:0016020, GO:0016020, GO:0005886, integral component of membrane, membrane, membrane, plasma membrane, GO:0015098, GO:0005515, molybdate ion transmembrane transporter activity, protein binding, GO:0015689, molybdate ion transport, 92 87 86 13 47 59 20 59 29 ENSG00000182545 chr14 20505537 20511169 + RNASE10 protein_coding 338879 GO:0005576, extracellular region, GO:0005515, GO:0004540, GO:0003676, protein binding, ribonuclease activity, nucleic acid binding, GO:1902093, GO:0090501, GO:0080154, GO:0034113, GO:0022409, GO:0007338, positive regulation of flagellated sperm motility, RNA phosphodiester bond hydrolysis, regulation of fertilization, heterotypic cell-cell adhesion, positive regulation of cell-cell adhesion, single fertilization, 0 0 0 0 0 0 1 0 0 ENSG00000182551 chr2 3497361 3519736 - ADI1 protein_coding This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. 55256 GO:0005886, GO:0005829, GO:0005737, GO:0005634, plasma membrane, cytosol, cytoplasm, nucleus, GO:0016491, GO:0010309, GO:0005515, GO:0005506, oxidoreductase activity, acireductone dioxygenase [iron(II)-requiring] activity, protein binding, iron ion binding, GO:0055114, GO:0019509, GO:0019509, GO:0019509, GO:0006555, oxidation-reduction process, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, L-methionine salvage from methylthioadenosine, methionine metabolic process, 83 89 84 53 79 77 67 70 54 ENSG00000182552 chr4 183639635 183659225 - RWDD4 protein_coding 201965 GO:0005515, protein binding, 69 55 85 40 57 68 48 54 53 ENSG00000182557 chr17 4433688 4488208 + SPNS3 protein_coding 201305 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, GO:0006869, transmembrane transport, lipid transport, 35 76 127 7 10 17 8 12 4 ENSG00000182565 chr11 48420210 48421273 + OR4C2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182566 chr19 7728957 7733906 - CLEC4G protein_coding This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the immune response. C-type lectin receptors are pattern recognition receptors located on immune cells that play a role in the recognition and uptake of both self and non-self glycoproteins as well as mediating cell adhesion, glycoprotein clearance, and cell signaling functions. This gene's protein binds complex-type N-glycans of the viral envelope proteins of Ebola virus, West Nile filovirus, and SARS coronavirus, but not HIV or hepatitis C virus. In mouse, this protein has been shown to recognize activated T-cells and to negatively regulate T-cell receptor-mediated signalling. It also acts as a novel, liver-specific regulator of NK cell-mediated immunity in mouse. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2020]. 339390 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0030247, GO:0005515, GO:0001618, polysaccharide binding, protein binding, virus receptor activity, GO:0050776, GO:0046718, GO:0042130, GO:0002710, regulation of immune response, viral entry into host cell, negative regulation of T cell proliferation, negative regulation of T cell mediated immunity, 0 1 0 0 0 0 0 0 0 ENSG00000182568 chr3 18345387 18445588 - SATB1 protein_coding This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]. 6304 GO:0016605, GO:0016604, GO:0016363, GO:0005654, GO:0005654, GO:0005634, GO:0000792, GO:0000785, GO:0000785, PML body, nuclear body, nuclear matrix, nucleoplasm, nucleoplasm, nucleus, heterochromatin, chromatin, chromatin, GO:0043565, GO:0005515, GO:0003690, GO:0003682, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific DNA binding, protein binding, double-stranded DNA binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060004, GO:0050798, GO:0043374, GO:0043367, GO:0016571, GO:0016032, GO:0008544, GO:0006357, GO:0006338, GO:0006325, GO:0000122, GO:0000122, reflex, activated T cell proliferation, CD8-positive, alpha-beta T cell differentiation, CD4-positive, alpha-beta T cell differentiation, histone methylation, viral process, epidermis development, regulation of transcription by RNA polymerase II, chromatin remodeling, chromatin organization, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 673 582 849 628 530 724 603 401 545 ENSG00000182574 chrX 100956593 100957538 + Z97985.1 processed_pseudogene 0 0 0 0 1 4 1 0 0 ENSG00000182575 chr17 49575858 49583827 + NXPH3 protein_coding 11248 GO:0005576, extracellular region, GO:0005102, GO:0003674, signaling receptor binding, molecular_function, GO:0007218, neuropeptide signaling pathway, 0 0 0 3 0 0 0 1 0 ENSG00000182578 chr5 150053291 150113372 - CSF1R protein_coding The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]. 1436 GO:1990682, GO:1990682, GO:0043235, GO:0043231, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005654, CSF1-CSF1R complex, CSF1-CSF1R complex, receptor complex, intracellular membrane-bounded organelle, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0042803, GO:0019955, GO:0019955, GO:0019903, GO:0005524, GO:0005515, GO:0005011, GO:0005011, GO:0005011, GO:0004714, GO:0004713, protein homodimerization activity, cytokine binding, cytokine binding, protein phosphatase binding, ATP binding, protein binding, macrophage colony-stimulating factor receptor activity, macrophage colony-stimulating factor receptor activity, macrophage colony-stimulating factor receptor activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2000249, GO:2000147, GO:0120041, GO:0071902, GO:0071345, GO:0070374, GO:0061518, GO:0061098, GO:0060603, GO:0048015, GO:0046777, GO:0046488, GO:0045217, GO:0045124, GO:0045087, GO:0044794, GO:0043066, GO:0042531, GO:0038145, GO:0036006, GO:0033674, GO:0032722, GO:0031529, GO:0030335, GO:0030316, GO:0030316, GO:0030225, GO:0030224, GO:0030097, GO:0021879, GO:0021772, GO:0019221, GO:0019221, GO:0018108, GO:0010759, GO:0008360, GO:0008285, GO:0008284, GO:0008283, GO:0007411, GO:0007275, GO:0007169, GO:0007169, GO:0007165, GO:0006954, GO:0002931, GO:0002244, GO:0001934, regulation of actin cytoskeleton reorganization, positive regulation of cell motility, positive regulation of macrophage proliferation, positive regulation of protein serine/threonine kinase activity, cellular response to cytokine stimulus, positive regulation of ERK1 and ERK2 cascade, microglial cell proliferation, positive regulation of protein tyrosine kinase activity, mammary gland duct morphogenesis, phosphatidylinositol-mediated signaling, protein autophosphorylation, phosphatidylinositol metabolic process, cell-cell junction maintenance, regulation of bone resorption, innate immune response, positive regulation by host of viral process, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, macrophage colony-stimulating factor signaling pathway, cellular response to macrophage colony-stimulating factor stimulus, positive regulation of kinase activity, positive regulation of chemokine production, ruffle organization, positive regulation of cell migration, osteoclast differentiation, osteoclast differentiation, macrophage differentiation, monocyte differentiation, hemopoiesis, forebrain neuron differentiation, olfactory bulb development, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, peptidyl-tyrosine phosphorylation, positive regulation of macrophage chemotaxis, regulation of cell shape, negative regulation of cell population proliferation, positive regulation of cell population proliferation, cell population proliferation, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, inflammatory response, response to ischemia, hematopoietic progenitor cell differentiation, positive regulation of protein phosphorylation, 405 425 669 280 409 471 276 341 436 ENSG00000182580 chr3 184561784 184582409 + EPHB3 protein_coding Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]. 2049 GO:0043235, GO:0043005, GO:0030425, GO:0005887, GO:0005887, GO:0005886, GO:0005829, GO:0005576, receptor complex, neuron projection, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytosol, extracellular region, GO:0008046, GO:0005524, GO:0005515, GO:0005005, GO:0005003, GO:0004714, axon guidance receptor activity, ATP binding, protein binding, transmembrane-ephrin receptor activity, ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:0060997, GO:0060996, GO:0060021, GO:0051965, GO:0050770, GO:0048546, GO:0048538, GO:0048013, GO:0048013, GO:0046777, GO:0043087, GO:0034446, GO:0033674, GO:0031290, GO:0022407, GO:0022038, GO:0021952, GO:0018108, GO:0016477, GO:0007413, GO:0007411, GO:0007411, GO:0007275, GO:0007169, GO:0001655, GO:0001525, dendritic spine morphogenesis, dendritic spine development, roof of mouth development, positive regulation of synapse assembly, regulation of axonogenesis, digestive tract morphogenesis, thymus development, ephrin receptor signaling pathway, ephrin receptor signaling pathway, protein autophosphorylation, regulation of GTPase activity, substrate adhesion-dependent cell spreading, positive regulation of kinase activity, retinal ganglion cell axon guidance, regulation of cell-cell adhesion, corpus callosum development, central nervous system projection neuron axonogenesis, peptidyl-tyrosine phosphorylation, cell migration, axonal fasciculation, axon guidance, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, urogenital system development, angiogenesis, 1 2 1 0 0 0 0 1 0 ENSG00000182583 chrX 7842262 7844143 + VCX protein_coding This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]. 26609 GO:0005730, GO:0005634, nucleolus, nucleus, GO:0003682, chromatin binding, GO:0042255, GO:0007420, GO:0007283, GO:0006325, ribosome assembly, brain development, spermatogenesis, chromatin organization, 0 2 0 0 0 0 0 0 0 ENSG00000182584 chr20 33666498 33668525 + ACTL10 protein_coding 170487 GO:0005869, dynactin complex, 1 3 6 1 2 2 2 1 0 ENSG00000182585 chr4 74308473 74315307 + EPGN protein_coding The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, proliferation and migration. This protein has been reported to have high mitogenic activity but low affinity for its receptor. Expression of this transcript and protein have been reported in cancer specimens of the breast, bladder, and prostate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 255324 GO:0030665, GO:0005887, GO:0005615, GO:0005576, clathrin-coated vesicle membrane, integral component of plasma membrane, extracellular space, extracellular region, GO:0008083, GO:0008083, GO:0005515, GO:0005154, GO:0005154, growth factor activity, growth factor activity, protein binding, epidermal growth factor receptor binding, epidermal growth factor receptor binding, GO:0061024, GO:0051897, GO:0050679, GO:0045840, GO:0045840, GO:0045741, GO:0045741, GO:0043406, GO:0042059, GO:0008284, GO:0008284, GO:0007173, GO:0007173, GO:0007165, GO:0001525, GO:0000187, GO:0000165, membrane organization, positive regulation of protein kinase B signaling, positive regulation of epithelial cell proliferation, positive regulation of mitotic nuclear division, positive regulation of mitotic nuclear division, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of epidermal growth factor-activated receptor activity, positive regulation of MAP kinase activity, negative regulation of epidermal growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal transduction, angiogenesis, activation of MAPK activity, MAPK cascade, 0 1 2 0 0 0 0 0 0 ENSG00000182586 chr21 45234340 45264548 + LINC00334 lincRNA 114042 259 249 328 270 334 327 217 190 218 ENSG00000182591 chr21 30880644 30881555 - KRTAP11-1 protein_coding 337880 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000182600 chr2 232857270 232878708 + SNORC protein_coding 389084 GO:0071944, GO:0071944, GO:0062023, GO:0016021, GO:0005737, cell periphery, cell periphery, collagen-containing extracellular matrix, integral component of membrane, cytoplasm, GO:0005515, protein binding, GO:0051216, cartilage development, 13 11 10 28 24 17 19 14 20 ENSG00000182601 chr16 25692026 26137688 + HS3ST4 protein_coding This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008]. 9951 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0008467, GO:0008467, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, GO:0030201, heparan sulfate proteoglycan metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000182606 chr3 42013802 42225889 + TRAK1 protein_coding 22906 GO:1904115, GO:0048471, GO:0044295, GO:0031966, GO:0031410, GO:0030425, GO:0005938, GO:0005769, GO:0005739, GO:0005739, GO:0005737, GO:0005634, axon cytoplasm, perinuclear region of cytoplasm, axonal growth cone, mitochondrial membrane, cytoplasmic vesicle, dendrite, cell cortex, early endosome, mitochondrion, mitochondrion, cytoplasm, nucleus, GO:0050811, GO:0030911, GO:0017022, GO:0005515, GO:0005102, GABA receptor binding, TPR domain binding, myosin binding, protein binding, signaling receptor binding, GO:0098957, GO:0050772, GO:0048813, GO:0048311, GO:0047496, GO:0022008, GO:0008333, GO:0008333, GO:0006605, GO:0006605, GO:0006493, GO:0006357, anterograde axonal transport of mitochondrion, positive regulation of axonogenesis, dendrite morphogenesis, mitochondrion distribution, vesicle transport along microtubule, neurogenesis, endosome to lysosome transport, endosome to lysosome transport, protein targeting, protein targeting, protein O-linked glycosylation, regulation of transcription by RNA polymerase II, 525 478 491 352 381 291 338 309 316 ENSG00000182612 chr17 81637171 81648749 + TSPAN10 protein_coding 83882 GO:0005887, integral component of plasma membrane, GO:0019899, enzyme binding, GO:0072594, establishment of protein localization to organelle, 0 0 0 1 0 0 0 0 3 ENSG00000182613 chr5 181147586 181159285 + OR2V2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 285659 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 3 0 0 ENSG00000182621 chr20 8077251 8968360 + PLCB1 protein_coding The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 23236 GO:0070062, GO:0045202, GO:0031965, GO:0016607, GO:0016607, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0000785, extracellular exosome, synapse, nuclear membrane, nuclear speck, nuclear speck, cytosol, cytoplasm, cytoplasm, nucleus, chromatin, GO:0042802, GO:0019899, GO:0005546, GO:0005516, GO:0005516, GO:0005515, GO:0005509, GO:0005096, GO:0004629, GO:0004435, GO:0004435, GO:0004435, GO:0004435, identical protein binding, enzyme binding, phosphatidylinositol-4,5-bisphosphate binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, GTPase activator activity, phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:2000560, GO:2000438, GO:2000344, GO:1900087, GO:0080154, GO:0070498, GO:0060466, GO:0048639, GO:0048015, GO:0048009, GO:0046488, GO:0046488, GO:0046330, GO:0045893, GO:0045892, GO:0045663, GO:0043647, GO:0043547, GO:0040019, GO:0035723, GO:0035722, GO:0032735, GO:0021987, GO:0016042, GO:0008277, GO:0007613, GO:0007613, GO:0007223, GO:0007215, GO:0007213, GO:0007186, GO:0007165, GO:0000086, positive regulation of CD24 production, negative regulation of monocyte extravasation, positive regulation of acrosome reaction, positive regulation of G1/S transition of mitotic cell cycle, regulation of fertilization, interleukin-1-mediated signaling pathway, activation of meiosis involved in egg activation, positive regulation of developmental growth, phosphatidylinositol-mediated signaling, insulin-like growth factor receptor signaling pathway, phosphatidylinositol metabolic process, phosphatidylinositol metabolic process, positive regulation of JNK cascade, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of myoblast differentiation, inositol phosphate metabolic process, positive regulation of GTPase activity, positive regulation of embryonic development, interleukin-15-mediated signaling pathway, interleukin-12-mediated signaling pathway, positive regulation of interleukin-12 production, cerebral cortex development, lipid catabolic process, regulation of G protein-coupled receptor signaling pathway, memory, memory, Wnt signaling pathway, calcium modulating pathway, glutamate receptor signaling pathway, G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, G2/M transition of mitotic cell cycle, 55 54 83 32 72 78 58 42 100 ENSG00000182625 chr15 58686411 58686617 + AC091046.1 processed_pseudogene 0 3 0 6 0 3 0 0 0 ENSG00000182628 chr17 59109951 59155269 - SKA2 protein_coding 348235 GO:0005876, GO:0005876, GO:0005829, GO:0000940, GO:0000940, spindle microtubule, spindle microtubule, cytosol, condensed chromosome outer kinetochore, condensed chromosome outer kinetochore, GO:0008017, GO:0008017, GO:0005515, microtubule binding, microtubule binding, protein binding, GO:0051301, GO:0031110, GO:0007059, GO:0007059, GO:0000278, GO:0000278, cell division, regulation of microtubule polymerization or depolymerization, chromosome segregation, chromosome segregation, mitotic cell cycle, mitotic cell cycle, 11 12 18 16 28 33 16 11 42 ENSG00000182631 chr5 33936386 33938237 + RXFP3 protein_coding 51289 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0008528, GO:0004930, G protein-coupled peptide receptor activity, G protein-coupled receptor activity, GO:0032467, GO:0007218, GO:0007186, positive regulation of cytokinesis, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000182632 chr10 42408168 42475349 - CCNYL2 transcribed_unprocessed_pseudogene 414194 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0019901, GO:0016538, protein kinase binding, cyclin-dependent protein serine/threonine kinase regulator activity, GO:0045737, positive regulation of cyclin-dependent protein serine/threonine kinase activity, 0 1 0 0 1 0 0 1 0 ENSG00000182634 chr11 124036013 124041325 - OR10G7 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390265 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 4 0 0 0 0 0 ENSG00000182636 chr15 23685400 23687330 - NDN protein_coding This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]. 4692 GO:0043204, GO:0042995, GO:0032991, GO:0005829, GO:0005813, GO:0005654, GO:0005654, perikaryon, cell projection, protein-containing complex, cytosol, centrosome, nucleoplasm, nucleoplasm, GO:1990841, GO:0043015, GO:0005515, GO:0001228, GO:0000978, promoter-specific chromatin binding, gamma-tubulin binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090312, GO:0071514, GO:0048871, GO:0048675, GO:0048011, GO:0045944, GO:0043433, GO:0040008, GO:0019233, GO:0019221, GO:0009791, GO:0008347, GO:0008285, GO:0007417, GO:0007413, GO:0003016, GO:0001764, GO:0000122, positive regulation of protein deacetylation, genetic imprinting, multicellular organismal homeostasis, axon extension, neurotrophin TRK receptor signaling pathway, positive regulation of transcription by RNA polymerase II, negative regulation of DNA-binding transcription factor activity, regulation of growth, sensory perception of pain, cytokine-mediated signaling pathway, post-embryonic development, glial cell migration, negative regulation of cell population proliferation, central nervous system development, axonal fasciculation, respiratory system process, neuron migration, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000182645 chr10 116324428 116380029 + CCDC172 protein_coding 374355 GO:0097225, GO:0005737, sperm midpiece, cytoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000182648 chr7 156472196 156640654 - LINC01006 lincRNA 100506380 0 0 0 2 7 0 2 1 4 ENSG00000182652 chr14 19743571 19749469 + OR4Q3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 441669 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000182667 chr11 131370478 132336822 + NTM protein_coding This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]. 50863 GO:0031225, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, extracellular region, GO:0005515, protein binding, GO:0008038, GO:0007155, neuron recognition, cell adhesion, 0 0 0 1 0 0 0 1 0 ENSG00000182670 chr21 37073226 37203112 + TTC3 protein_coding 7267 GO:0005829, GO:0005794, GO:0005730, GO:0005654, GO:0005634, cytosol, Golgi apparatus, nucleolus, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0004842, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:0070936, GO:0006511, GO:0006511, protein K48-linked ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 218 200 329 550 221 585 448 150 446 ENSG00000182674 chr8 72537391 72938349 + KCNB2 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]. 9312 GO:0043204, GO:0043025, GO:0032809, GO:0030425, GO:0030425, GO:0016021, GO:0008076, GO:0008076, GO:0005886, GO:0005886, perikaryon, neuronal cell body, neuronal cell body membrane, dendrite, dendrite, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, plasma membrane, plasma membrane, GO:0046982, GO:0005251, GO:0005251, GO:0005249, protein heterodimerization activity, delayed rectifier potassium channel activity, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, GO:0072659, GO:0071805, GO:0071805, GO:0051260, GO:0034765, GO:0006940, GO:0006813, protein localization to plasma membrane, potassium ion transmembrane transport, potassium ion transmembrane transport, protein homooligomerization, regulation of ion transmembrane transport, regulation of smooth muscle contraction, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000182676 chr17 81833492 81835050 - PPP1R27 protein_coding 116729 GO:0019902, GO:0019902, GO:0005515, GO:0004864, phosphatase binding, phosphatase binding, protein binding, protein phosphatase inhibitor activity, GO:0032515, GO:0010923, GO:0010923, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 1 1 2 37 56 94 45 44 64 ENSG00000182685 chr16 2209253 2211950 - BRICD5 protein_coding 283870 GO:0016021, GO:0005615, integral component of membrane, extracellular space, GO:0005515, protein binding, GO:0042127, regulation of cell population proliferation, 54 83 91 71 139 70 74 88 76 ENSG00000182687 chr17 76074794 76077541 + GALR2 protein_coding Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq, Jul 2008]. 8811 GO:0016021, GO:0005929, GO:0005887, GO:0005886, integral component of membrane, cilium, integral component of plasma membrane, plasma membrane, GO:0042923, GO:0017046, GO:0017046, GO:0008528, GO:0005515, GO:0004966, GO:0004966, neuropeptide binding, peptide hormone binding, peptide hormone binding, G protein-coupled peptide receptor activity, protein binding, galanin receptor activity, galanin receptor activity, GO:1902608, GO:0090663, GO:0046488, GO:0045944, GO:0043647, GO:0031175, GO:0007631, GO:0007611, GO:0007275, GO:0007218, GO:0007204, GO:0007200, GO:0007194, GO:0007189, GO:0007188, GO:0007186, GO:0007166, GO:0006936, positive regulation of large conductance calcium-activated potassium channel activity, galanin-activated signaling pathway, phosphatidylinositol metabolic process, positive regulation of transcription by RNA polymerase II, inositol phosphate metabolic process, neuron projection development, feeding behavior, learning or memory, multicellular organism development, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, negative regulation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, muscle contraction, 4 3 4 38 3 34 41 11 10 ENSG00000182698 chr2 219327409 219333177 - RESP18 protein_coding 389075 GO:0031410, GO:0005794, GO:0005783, cytoplasmic vesicle, Golgi apparatus, endoplasmic reticulum, 0 0 0 0 0 0 0 0 0 ENSG00000182700 chr5 140125935 140129392 + IGIP protein_coding 492311 GO:0005576, extracellular region, 15 14 20 12 10 23 22 7 25 ENSG00000182704 chr11 76782251 76798154 + TSKU protein_coding 25987 GO:0005615, extracellular space, GO:0061073, GO:0030178, GO:0021960, GO:0021670, GO:0021540, GO:0010468, ciliary body morphogenesis, negative regulation of Wnt signaling pathway, anterior commissure morphogenesis, lateral ventricle development, corpus callosum morphogenesis, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000182707 chrX 73875068 73875635 + FXYD6P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182712 chrX 155061622 155071362 - CMC4 protein_coding This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009]. 100272147 GO:0005758, GO:0005739, mitochondrial intermembrane space, mitochondrion, 0 0 0 0 0 0 0 0 0 ENSG00000182718 chr15 60347134 60402883 - ANXA2 protein_coding This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms. [provided by RefSeq, Dec 2019]. 302 GO:1990667, GO:1990665, GO:0070062, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0048471, GO:0045121, GO:0044354, GO:0043220, GO:0042470, GO:0042383, GO:0035749, GO:0035578, GO:0031982, GO:0031982, GO:0031902, GO:0030496, GO:0019897, GO:0016323, GO:0016020, GO:0009986, GO:0005938, GO:0005912, GO:0005886, GO:0005886, GO:0005829, GO:0005811, GO:0005769, GO:0005768, GO:0005765, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005604, GO:0005576, GO:0005576, GO:0001726, PCSK9-AnxA2 complex, AnxA2-p11 complex, extracellular exosome, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, perinuclear region of cytoplasm, membrane raft, macropinosome, Schmidt-Lanterman incisure, melanosome, sarcolemma, myelin sheath adaxonal region, azurophil granule lumen, vesicle, vesicle, late endosome membrane, midbody, extrinsic component of plasma membrane, basolateral plasma membrane, membrane, cell surface, cell cortex, adherens junction, plasma membrane, plasma membrane, cytosol, lipid droplet, early endosome, endosome, lysosomal membrane, cytoplasm, cytoplasm, nucleus, nucleus, extracellular space, extracellular space, basement membrane, extracellular region, extracellular region, ruffle, GO:0098641, GO:0048306, GO:0046790, GO:0044730, GO:0044548, GO:0042802, GO:0031267, GO:0019834, GO:0019834, GO:0008092, GO:0005546, GO:0005546, GO:0005544, GO:0005544, GO:0005515, GO:0005509, GO:0005262, GO:0004867, GO:0003723, GO:0002020, GO:0002020, GO:0001786, cadherin binding involved in cell-cell adhesion, calcium-dependent protein binding, virion binding, bone sialoprotein binding, S100 protein binding, identical protein binding, small GTPase binding, phospholipase A2 inhibitor activity, phospholipase A2 inhibitor activity, cytoskeletal protein binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, calcium channel activity, serine-type endopeptidase inhibitor activity, RNA binding, protease binding, protease binding, phosphatidylserine binding, GO:1905602, GO:1905599, GO:1905597, GO:1905581, GO:0098609, GO:0097066, GO:0072659, GO:0070588, GO:0052405, GO:0052362, GO:0048146, GO:0044147, GO:0044090, GO:0043312, GO:0042730, GO:0036035, GO:0035722, GO:0032804, GO:0031340, GO:0030199, GO:0016032, GO:0010951, GO:0007589, GO:0006900, GO:0001934, GO:0001921, GO:0001765, GO:0001525, positive regulation of receptor-mediated endocytosis involved in cholesterol transport, positive regulation of low-density lipoprotein receptor activity, positive regulation of low-density lipoprotein particle receptor binding, positive regulation of low-density lipoprotein particle clearance, cell-cell adhesion, response to thyroid hormone, protein localization to plasma membrane, calcium ion transmembrane transport, negative regulation by host of symbiont molecular function, catabolism by host of symbiont protein, positive regulation of fibroblast proliferation, negative regulation of development of symbiont involved in interaction with host, positive regulation of vacuole organization, neutrophil degranulation, fibrinolysis, osteoclast development, interleukin-12-mediated signaling pathway, negative regulation of low-density lipoprotein particle receptor catabolic process, positive regulation of vesicle fusion, collagen fibril organization, viral process, negative regulation of endopeptidase activity, body fluid secretion, vesicle budding from membrane, positive regulation of protein phosphorylation, positive regulation of receptor recycling, membrane raft assembly, angiogenesis, 59 46 102 203 152 289 176 94 207 ENSG00000182722 chr7 64852397 64853354 - SEPHS1P1 processed_pseudogene 0 0 0 0 0 1 0 0 8 ENSG00000182732 chr14 71932439 72566529 + RGS6 protein_coding This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011]. 9628 GO:0019898, GO:0005886, GO:0005829, GO:0005634, extrinsic component of membrane, plasma membrane, cytosol, nucleus, GO:0005515, GO:0005096, GO:0003924, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0035556, GO:0009968, GO:0008277, GO:0007186, positive regulation of GTPase activity, intracellular signal transduction, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 1 0 0 1 0 3 0 0 0 ENSG00000182742 chr17 48575513 48580111 - HOXB4 protein_coding This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq, Jul 2008]. 3214 GO:0005813, GO:0005654, GO:0005634, GO:0000785, centrosome, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000738, GO:0060218, GO:0060216, GO:0048704, GO:0048539, GO:0048536, GO:0048103, GO:0045944, GO:0009952, GO:0008283, GO:0006357, GO:0002011, GO:0000122, positive regulation of stem cell differentiation, hematopoietic stem cell differentiation, definitive hemopoiesis, embryonic skeletal system morphogenesis, bone marrow development, spleen development, somatic stem cell division, positive regulation of transcription by RNA polymerase II, anterior/posterior pattern specification, cell population proliferation, regulation of transcription by RNA polymerase II, morphogenesis of an epithelial sheet, negative regulation of transcription by RNA polymerase II, 0 2 4 6 1 16 0 4 5 ENSG00000182747 chr6 136922264 136925639 + SLC35D3 protein_coding 340146 GO:0016021, GO:0005794, GO:0005783, GO:0005769, integral component of membrane, Golgi apparatus, endoplasmic reticulum, early endosome, GO:0015297, GO:0005463, GO:0005462, GO:0005461, antiporter activity, UDP-N-acetylgalactosamine transmembrane transporter activity, UDP-N-acetylglucosamine transmembrane transporter activity, UDP-glucuronic acid transmembrane transporter activity, GO:1990569, GO:0097009, GO:0070863, GO:0015789, GO:0015787, GO:0008643, UDP-N-acetylglucosamine transmembrane transport, energy homeostasis, positive regulation of protein exit from endoplasmic reticulum, UDP-N-acetylgalactosamine transmembrane transport, UDP-glucuronic acid transmembrane transport, carbohydrate transport, 0 0 0 0 0 0 0 3 0 ENSG00000182749 chr1 25861210 25871253 - PAQR7 protein_coding 164091 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0038023, GO:0005515, GO:0005496, GO:0003707, signaling receptor activity, protein binding, steroid binding, steroid hormone receptor activity, GO:0048545, GO:0048477, GO:0043401, GO:0007275, response to steroid hormone, oogenesis, steroid hormone mediated signaling pathway, multicellular organism development, 28 42 35 20 68 28 27 53 30 ENSG00000182752 chr9 116153804 116402322 + PAPPA protein_coding This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]. 5069 GO:0005576, GO:0005576, GO:0005576, extracellular region, extracellular region, extracellular region, GO:0008270, GO:0008237, GO:0008237, GO:0005515, GO:0004222, zinc ion binding, metallopeptidase activity, metallopeptidase activity, protein binding, metalloendopeptidase activity, GO:0044267, GO:0007565, GO:0006508, cellular protein metabolic process, female pregnancy, proteolysis, 1 0 0 0 0 0 2 0 0 ENSG00000182759 chr8 143419182 143430406 - MAFA protein_coding MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]. 389692 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030073, GO:0030073, GO:0009749, GO:0009749, GO:0007263, GO:0006357, GO:0006355, positive regulation of transcription by RNA polymerase II, insulin secretion, insulin secretion, response to glucose, response to glucose, nitric oxide mediated signal transduction, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 4 0 3 4 0 10 3 4 ENSG00000182768 chr15 90265659 90278141 + NGRN protein_coding 51335 GO:0072686, GO:0045171, GO:0031966, GO:0016604, GO:0005739, GO:0005654, GO:0005634, GO:0005634, mitotic spindle, intercellular bridge, mitochondrial membrane, nuclear body, mitochondrion, nucleoplasm, nucleus, nucleus, GO:0019843, GO:0005515, GO:0003723, rRNA binding, protein binding, RNA binding, GO:0070131, GO:0030182, positive regulation of mitochondrial translation, neuron differentiation, 71 94 115 43 68 78 66 65 72 ENSG00000182771 chr10 85599555 86366493 - GRID1 protein_coding This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]. 2894 GO:0099061, GO:0098978, GO:0070062, GO:0045211, GO:0005886, integral component of postsynaptic density membrane, glutamatergic synapse, extracellular exosome, postsynaptic membrane, plasma membrane, GO:1904315, GO:0038023, GO:0015276, GO:0008066, GO:0004970, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, signaling receptor activity, ligand-gated ion channel activity, glutamate receptor activity, ionotropic glutamate receptor activity, GO:0060078, GO:0050804, GO:0035249, GO:0035235, GO:0035176, GO:0034220, regulation of postsynaptic membrane potential, modulation of chemical synaptic transmission, synaptic transmission, glutamatergic, ionotropic glutamate receptor signaling pathway, social behavior, ion transmembrane transport, 0 7 2 0 0 0 2 0 0 ENSG00000182774 chr15 82536750 82540564 - RPS17 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]. 6218 GO:0022627, GO:0022627, GO:0016020, GO:0005925, GO:0005840, GO:0005829, GO:0005654, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, focal adhesion, ribosome, cytosol, nucleoplasm, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0042274, GO:0034101, GO:0019083, GO:0006614, GO:0006413, GO:0006413, GO:0006412, GO:0006364, GO:0000184, ribosomal small subunit biogenesis, erythrocyte homeostasis, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translational initiation, translation, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 0 0 0 0 0 1 2 0 0 ENSG00000182776 chrX 52050860 52054255 - AC239585.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000182782 chr12 122701293 122703343 - HCAR2 protein_coding 338442 GO:0030054, GO:0016021, GO:0005886, GO:0005886, cell junction, integral component of membrane, plasma membrane, plasma membrane, GO:0070553, nicotinic acid receptor activity, GO:0070165, GO:0050995, GO:0033031, GO:0007186, GO:0001781, positive regulation of adiponectin secretion, negative regulation of lipid catabolic process, positive regulation of neutrophil apoptotic process, G protein-coupled receptor signaling pathway, neutrophil apoptotic process, 9129 8917 8031 34034 22943 36543 50820 34266 35562 ENSG00000182783 chr1 248556912 248562772 - OR2T29 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 343563 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 1 0 ENSG00000182791 chr11 66590176 66593083 - CCDC87 protein_coding 55231 GO:0005515, protein binding, GO:2000344, GO:1905516, GO:0030154, GO:0007338, GO:0007283, positive regulation of acrosome reaction, positive regulation of fertilization, cell differentiation, single fertilization, spermatogenesis, 0 0 2 0 0 0 0 0 0 ENSG00000182793 chr6 52831655 52846095 - GSTA5 protein_coding The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008]. 221357 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0005515, GO:0004364, GO:0004364, protein binding, glutathione transferase activity, glutathione transferase activity, GO:0006805, GO:0006749, GO:0006749, xenobiotic metabolic process, glutathione metabolic process, glutathione metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000182795 chr1 207018521 207032756 - C1orf116 protein_coding 79098 GO:0070062, GO:0005886, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 3 6 5 7 4 0 7 3 1 ENSG00000182796 chr12 55829608 55836246 + TMEM198B transcribed_unitary_pseudogene 440104 28 30 36 79 20 68 57 30 16 ENSG00000182798 chrX 16167481 16171464 + MAGEB17 protein_coding 645864 0 0 3 0 1 0 0 0 0 ENSG00000182809 chr14 105472962 105480170 + CRIP2 protein_coding This gene encodes a putative transcription factor with two LIM zinc-binding domains. The encoded protein may participate in the differentiation of smooth muscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 1397 GO:0008270, GO:0005515, zinc ion binding, protein binding, 26 27 26 70 30 79 69 12 44 ENSG00000182810 chr16 68021274 68023442 - DDX28 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008]. 55794 GO:0042645, GO:0035770, GO:0005829, GO:0005739, GO:0005739, GO:0005730, GO:0005654, mitochondrial nucleoid, ribonucleoprotein granule, cytosol, mitochondrion, mitochondrion, nucleolus, nucleoplasm, GO:0019843, GO:0005524, GO:0003724, GO:0003723, rRNA binding, ATP binding, RNA helicase activity, RNA binding, GO:1902775, GO:1902775, mitochondrial large ribosomal subunit assembly, mitochondrial large ribosomal subunit assembly, 21 43 23 13 19 5 20 9 8 ENSG00000182814 chr2 84290683 84292202 + FUNDC2P2 transcribed_processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000182816 chr21 30371391 30372257 - KRTAP13-2 protein_coding 337959 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000182824 chr22 18733914 18757906 + LINC01662 lincRNA 642643 0 0 0 0 0 0 0 0 0 ENSG00000182827 chr1 226144679 226186730 - ACBD3 protein_coding The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]. 64746 GO:0016020, GO:0005794, GO:0005739, GO:0000139, GO:0000139, GO:0000139, membrane, Golgi apparatus, mitochondrion, Golgi membrane, Golgi membrane, Golgi membrane, GO:0034237, GO:0005515, GO:0000062, protein kinase A regulatory subunit binding, protein binding, fatty-acyl-CoA binding, GO:0016032, GO:0006694, viral process, steroid biosynthetic process, 272 240 304 109 175 182 137 174 119 ENSG00000182831 chr16 9091648 9121640 + C16orf72 protein_coding 29035 GO:0005515, protein binding, 3871 3777 4106 1641 3906 3690 2326 3205 3324 ENSG00000182836 chr5 41306954 41510628 - PLCXD3 protein_coding 345557 GO:0005737, cytoplasm, GO:0008081, GO:0005515, phosphoric diester hydrolase activity, protein binding, GO:0016042, GO:0007165, lipid catabolic process, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000182841 chr22 42555223 42582038 - RRP7BP transcribed_unprocessed_pseudogene 91695 GO:0034456, GO:0032545, UTP-C complex, CURI complex, GO:0006364, GO:0000028, rRNA processing, ribosomal small subunit assembly, 23 16 33 72 35 45 48 23 20 ENSG00000182853 chr17 4785285 4786433 - VMO1 protein_coding 284013 GO:0070062, extracellular exosome, GO:0003674, molecular_function, GO:0008150, biological_process, 1 0 1 2 6 6 0 2 0 ENSG00000182854 chr15 101812202 101820197 + OR4F15 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390649 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000182858 chr22 49900229 49918458 - ALG12 protein_coding This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]. 79087 GO:0016021, GO:0016020, GO:0005789, GO:0005789, GO:0005788, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0052917, GO:0052824, GO:0000030, GO:0000030, GO:0000009, dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity, dolichyl-pyrophosphate Man7GlcNAc2 alpha-1,6-mannosyltransferase activity, mannosyltransferase activity, mannosyltransferase activity, alpha-1,6-mannosyltransferase activity, GO:0097502, GO:0006488, GO:0006488, GO:0006487, GO:0006457, mannosylation, dolichol-linked oligosaccharide biosynthetic process, dolichol-linked oligosaccharide biosynthetic process, protein N-linked glycosylation, protein folding, 137 151 194 135 155 181 89 139 194 ENSG00000182866 chr1 32251239 32286165 + LCK protein_coding This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]. 3932 GO:0070062, GO:0045121, GO:0031234, GO:0005886, GO:0005886, GO:0005829, GO:0001772, GO:0000242, extracellular exosome, membrane raft, extrinsic component of cytoplasmic side of plasma membrane, plasma membrane, plasma membrane, cytosol, immunological synapse, pericentriolar material, GO:0051117, GO:0043548, GO:0042802, GO:0042610, GO:0042609, GO:0042608, GO:0042169, GO:0019903, GO:0019901, GO:0008022, GO:0005524, GO:0005515, GO:0005102, GO:0004722, GO:0004715, GO:0004713, GO:0004713, GO:0004713, GO:0004713, GO:0001784, ATPase binding, phosphatidylinositol 3-kinase binding, identical protein binding, CD8 receptor binding, CD4 receptor binding, T cell receptor binding, SH2 domain binding, protein phosphatase binding, protein kinase binding, protein C-terminus binding, ATP binding, protein binding, signaling receptor binding, protein serine/threonine phosphatase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, phosphotyrosine residue binding, GO:2001244, GO:1903039, GO:0051897, GO:0051249, GO:0051209, GO:0050900, GO:0050870, GO:0050862, GO:0050853, GO:0050852, GO:0050690, GO:0045087, GO:0042493, GO:0042127, GO:0038083, GO:0034116, GO:0031295, GO:0030217, GO:0030217, GO:0030168, GO:0030154, GO:0030097, GO:0018108, GO:0007169, GO:0006919, GO:0006882, GO:0006470, GO:0006468, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of leukocyte cell-cell adhesion, positive regulation of protein kinase B signaling, regulation of lymphocyte activation, release of sequestered calcium ion into cytosol, leukocyte migration, positive regulation of T cell activation, positive regulation of T cell receptor signaling pathway, B cell receptor signaling pathway, T cell receptor signaling pathway, regulation of defense response to virus by virus, innate immune response, response to drug, regulation of cell population proliferation, peptidyl-tyrosine autophosphorylation, positive regulation of heterotypic cell-cell adhesion, T cell costimulation, T cell differentiation, T cell differentiation, platelet activation, cell differentiation, hemopoiesis, peptidyl-tyrosine phosphorylation, transmembrane receptor protein tyrosine kinase signaling pathway, activation of cysteine-type endopeptidase activity involved in apoptotic process, cellular zinc ion homeostasis, protein dephosphorylation, protein phosphorylation, 110 124 241 450 149 595 427 153 422 ENSG00000182870 chr12 132196372 132329349 - GALNT9 protein_coding This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 50614 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0016266, GO:0006493, O-glycan processing, protein O-linked glycosylation, 1 1 0 0 0 5 4 0 0 ENSG00000182871 chr21 45405137 45513720 + COL18A1 protein_coding This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 80781 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005615, GO:0005604, GO:0005581, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, basement membrane, collagen trimer, extracellular region, extracellular region, GO:0046872, GO:0030020, GO:0005201, metal ion binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, GO:2000353, GO:0051599, GO:0042493, GO:0030335, GO:0030198, GO:0030198, GO:0009887, GO:0008285, GO:0008284, GO:0007601, GO:0007155, GO:0001886, GO:0001525, positive regulation of endothelial cell apoptotic process, response to hydrostatic pressure, response to drug, positive regulation of cell migration, extracellular matrix organization, extracellular matrix organization, animal organ morphogenesis, negative regulation of cell population proliferation, positive regulation of cell population proliferation, visual perception, cell adhesion, endothelial cell morphogenesis, angiogenesis, 3985 3800 2459 2205 2796 1573 2457 2370 1453 ENSG00000182872 chrX 47144869 47186813 + RBM10 protein_coding This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]. 8241 GO:0032991, GO:0016607, GO:0005634, GO:0005634, protein-containing complex, nuclear speck, nucleus, nucleus, GO:0046872, GO:0042802, GO:0035198, GO:0005515, GO:0003723, GO:0003723, metal ion binding, identical protein binding, miRNA binding, protein binding, RNA binding, RNA binding, GO:0070935, GO:0048025, GO:0034393, GO:0008285, GO:0008150, GO:0000398, GO:0000381, GO:0000122, 3'-UTR-mediated mRNA stabilization, negative regulation of mRNA splicing, via spliceosome, positive regulation of smooth muscle cell apoptotic process, negative regulation of cell population proliferation, biological_process, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, negative regulation of transcription by RNA polymerase II, 564 626 830 790 816 1011 665 578 705 ENSG00000182873 chr1 2181794 2184389 - PRKCZ-AS1 antisense 100506504 73 98 100 60 73 58 61 67 47 ENSG00000182885 chr16 57668187 57689378 + ADGRG3 protein_coding 222487 GO:0035579, GO:0016021, GO:0005887, GO:0005886, GO:0005886, specific granule membrane, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:1901223, GO:0043312, GO:0032792, GO:0030334, GO:0030183, GO:0007189, GO:0007186, GO:0007166, negative regulation of NIK/NF-kappaB signaling, neutrophil degranulation, negative regulation of CREB transcription factor activity, regulation of cell migration, B cell differentiation, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, 10392 10309 15112 8013 9335 10486 9425 7101 8479 ENSG00000182888 chrX 3717149 3717600 + AC007685.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182890 chrX 121047588 121050080 + GLUD2 protein_coding The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010]. 2747 GO:0005829, GO:0005759, GO:0005739, GO:0005739, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, GO:0070728, GO:0043531, GO:0005525, GO:0004353, GO:0004352, GO:0004352, leucine binding, ADP binding, GTP binding, glutamate dehydrogenase [NAD(P)+] activity, glutamate dehydrogenase (NAD+) activity, glutamate dehydrogenase (NAD+) activity, GO:0055114, GO:0006538, GO:0006538, GO:0006537, GO:0006536, oxidation-reduction process, glutamate catabolic process, glutamate catabolic process, glutamate biosynthetic process, glutamate metabolic process, 5 1 0 4 1 1 3 6 1 ENSG00000182896 chr17 7355123 7357219 + TMEM95 protein_coding 339168 GO:0097524, GO:0016021, GO:0002080, sperm plasma membrane, integral component of membrane, acrosomal membrane, GO:0005515, protein binding, GO:0007342, fusion of sperm to egg plasma membrane involved in single fertilization, 0 0 0 0 2 0 0 0 0 ENSG00000182898 chr1 152084144 152089064 - TCHHL1 protein_coding This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]. 126637 GO:0046914, transition metal ion binding, 0 0 0 0 0 0 1 0 0 ENSG00000182899 chr3 197949980 197956610 + RPL35A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]. 6165 GO:0070062, GO:0022625, GO:0022625, GO:0016020, GO:0005829, extracellular exosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, cytosol, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0000049, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, tRNA binding, GO:0042273, GO:0042273, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0002181, GO:0000184, ribosomal large subunit biogenesis, ribosomal large subunit biogenesis, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 549 435 791 1459 613 1345 901 644 996 ENSG00000182901 chr1 240775515 241357230 - RGS7 protein_coding 6000 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0031681, GO:0005096, GO:0003924, G-protein beta-subunit binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0035556, GO:0009968, GO:0007186, GO:0006457, positive regulation of GTPase activity, intracellular signal transduction, negative regulation of signal transduction, G protein-coupled receptor signaling pathway, protein folding, 0 0 0 0 0 0 3 0 0 ENSG00000182902 chr22 17563439 17590994 + SLC25A18 protein_coding 83733 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0022857, GO:0015293, GO:0015183, GO:0005515, GO:0005347, GO:0005313, transmembrane transporter activity, symporter activity, L-aspartate transmembrane transporter activity, protein binding, ATP transmembrane transporter activity, L-glutamate transmembrane transporter activity, GO:0070778, GO:0043490, GO:0015867, GO:0015813, GO:0015810, GO:0006811, GO:0006810, L-aspartate transmembrane transport, malate-aspartate shuttle, ATP transport, L-glutamate transmembrane transport, aspartate transmembrane transport, ion transport, transport, 6 6 3 13 24 18 31 22 6 ENSG00000182903 chr4 425815 499156 - ZNF721 protein_coding 170960 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 161 130 211 250 167 240 182 151 183 ENSG00000182912 chr21 44517216 44525952 + TSPEAR-AS2 antisense 5 15 10 11 5 0 8 9 10 ENSG00000182916 chrX 103330196 103332326 + TCEAL7 protein_coding 56849 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0050699, WW domain binding, GO:0045892, GO:0032088, negative regulation of transcription, DNA-templated, negative regulation of NF-kappaB transcription factor activity, 0 0 0 0 0 0 0 0 0 ENSG00000182919 chr11 93741591 93764749 + C11orf54 protein_coding 28970 GO:0070062, GO:0016604, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, nuclear body, nucleoplasm, nucleus, nucleus, GO:0016788, GO:0016788, GO:0008270, GO:0008270, GO:0005515, hydrolase activity, acting on ester bonds, hydrolase activity, acting on ester bonds, zinc ion binding, zinc ion binding, protein binding, 202 245 281 95 256 160 123 172 192 ENSG00000182921 chr3 73182501 73183291 - CCDC75P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000182923 chr3 134485721 134575017 + CEP63 protein_coding This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 80254 GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0000922, cytosol, centriole, centriole, centrosome, spindle pole, GO:0005515, protein binding, GO:0098535, GO:0097711, GO:0051301, GO:0051225, GO:0042770, GO:0010389, GO:0007099, GO:0007099, GO:0007099, GO:0000086, GO:0000077, de novo centriole assembly involved in multi-ciliated epithelial cell differentiation, ciliary basal body-plasma membrane docking, cell division, spindle assembly, signal transduction in response to DNA damage, regulation of G2/M transition of mitotic cell cycle, centriole replication, centriole replication, centriole replication, G2/M transition of mitotic cell cycle, DNA damage checkpoint, 1555 1933 1504 1225 2757 1668 1465 2016 1410 ENSG00000182931 chr20 45684653 45705019 - WFDC10B protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq, Jul 2008]. 280664 GO:0005615, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0045087, GO:0019731, GO:0010951, innate immune response, antibacterial humoral response, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000182934 chr11 126262919 126269144 - SRPRA protein_coding The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. 6734 GO:0070062, GO:0016020, GO:0016020, GO:0005789, GO:0005789, GO:0005785, extracellular exosome, membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, signal recognition particle receptor complex, GO:0005525, GO:0005047, GO:0003924, GO:0003723, GTP binding, signal recognition particle binding, GTPase activity, RNA binding, GO:0045047, GO:0036498, GO:0006614, GO:0006613, GO:0006605, protein targeting to ER, IRE1-mediated unfolded protein response, SRP-dependent cotranslational protein targeting to membrane, cotranslational protein targeting to membrane, protein targeting, 1667 1791 2073 997 1130 1012 1005 958 793 ENSG00000182938 chr17 74935719 74949992 + OTOP3 protein_coding 347741 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015252, GO:0005515, proton channel activity, protein binding, GO:1902600, proton transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000182944 chr22 29268009 29300525 + EWSR1 protein_coding This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]. 2130 GO:0005886, GO:0005737, GO:0005730, GO:0005654, GO:0005634, plasma membrane, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0046872, GO:0042802, GO:0005516, GO:0005515, GO:0003723, GO:0003723, GO:0003712, metal ion binding, identical protein binding, calmodulin binding, protein binding, RNA binding, RNA binding, transcription coregulator activity, GO:0006355, regulation of transcription, DNA-templated, 2418 2569 3446 2471 2718 2882 2155 1790 1931 ENSG00000182950 chr15 75723977 75727688 + ODF3L1 protein_coding 161753 GO:0005856, cytoskeleton, GO:0005515, protein binding, 0 1 0 0 0 0 0 0 0 ENSG00000182952 chr6 26538405 26546254 + HMGN4 protein_coding The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. [provided by RefSeq, Mar 2013]. 10473 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0031492, GO:0005515, GO:0003682, nucleosomal DNA binding, protein binding, chromatin binding, GO:0006325, chromatin organization, 277 521 562 175 326 341 223 331 295 ENSG00000182957 chr13 23979805 24307074 + SPATA13 protein_coding 221178 GO:0032587, GO:0030175, GO:0030027, GO:0005829, GO:0005737, GO:0005654, ruffle membrane, filopodium, lamellipodium, cytosol, cytoplasm, nucleoplasm, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0046847, GO:0030334, GO:0030032, GO:0016477, filopodium assembly, regulation of cell migration, lamellipodium assembly, cell migration, 1620 1382 2712 848 983 1607 952 651 1447 ENSG00000182963 chr17 44798448 44830816 - GJC1 protein_coding This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]. 10052 GO:0045202, GO:0016021, GO:0014704, GO:0005922, GO:0005922, GO:0005921, GO:0005886, GO:0005789, synapse, integral component of membrane, intercalated disc, connexin complex, connexin complex, gap junction, plasma membrane, endoplasmic reticulum membrane, GO:0086077, GO:0086020, GO:0005515, GO:0005243, GO:0005216, gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling, gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling, protein binding, gap junction channel activity, ion channel activity, GO:0086053, GO:0086021, GO:0086014, GO:0048738, GO:0048468, GO:0034220, GO:0016264, GO:0016264, GO:0007601, GO:0007268, GO:0007267, GO:0007043, GO:0006936, GO:0001570, AV node cell to bundle of His cell communication by electrical coupling, SA node cell to atrial cardiac muscle cell communication by electrical coupling, atrial cardiac muscle cell action potential, cardiac muscle tissue development, cell development, ion transmembrane transport, gap junction assembly, gap junction assembly, visual perception, chemical synaptic transmission, cell-cell signaling, cell-cell junction assembly, muscle contraction, vasculogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000182965 chr7 112520488 112521670 + NPM1P14 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000182968 chr13 112067647 112070488 + SOX1 protein_coding This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]. 6656 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990830, GO:1904936, GO:0048713, GO:0045944, GO:0030154, GO:0021884, GO:0021521, GO:0009653, GO:0006355, GO:0006355, GO:0006325, GO:0002089, GO:0000122, cellular response to leukemia inhibitory factor, interneuron migration, regulation of oligodendrocyte differentiation, positive regulation of transcription by RNA polymerase II, cell differentiation, forebrain neuron development, ventral spinal cord interneuron specification, anatomical structure morphogenesis, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, chromatin organization, lens morphogenesis in camera-type eye, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000182973 chr3 32685145 32773875 + CNOT10 protein_coding 25904 GO:0030014, GO:0030014, GO:0016020, GO:0005829, GO:0005634, CCR4-NOT complex, CCR4-NOT complex, membrane, cytosol, nucleus, GO:0005515, protein binding, GO:0031047, GO:0017148, GO:0006977, GO:0006402, GO:0000289, gene silencing by RNA, negative regulation of translation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, mRNA catabolic process, nuclear-transcribed mRNA poly(A) tail shortening, 316 302 377 223 277 215 270 219 209 ENSG00000182974 chr15 21637909 21638992 + AC135068.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000182979 chr14 105419820 105470729 + MTA1 protein_coding This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. 9112 GO:0043231, GO:0016581, GO:0016581, GO:0005874, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005635, GO:0005634, intracellular membrane-bounded organelle, NuRD complex, NuRD complex, microtubule, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nuclear envelope, nucleus, GO:0042826, GO:0008270, GO:0005515, GO:0003714, GO:0003714, GO:0003713, GO:0003713, GO:0003682, GO:0001103, GO:0001103, GO:0000978, GO:0000978, histone deacetylase binding, zinc ion binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, transcription coactivator activity, chromatin binding, RNA polymerase II repressing transcription factor binding, RNA polymerase II repressing transcription factor binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903508, GO:1902499, GO:0045475, GO:0043161, GO:0043153, GO:0040029, GO:0032922, GO:0016575, GO:0010212, GO:0010212, GO:0007165, GO:0006302, GO:0006302, GO:0000122, positive regulation of nucleic acid-templated transcription, positive regulation of protein autoubiquitination, locomotor rhythm, proteasome-mediated ubiquitin-dependent protein catabolic process, entrainment of circadian clock by photoperiod, regulation of gene expression, epigenetic, circadian regulation of gene expression, histone deacetylation, response to ionizing radiation, response to ionizing radiation, signal transduction, double-strand break repair, double-strand break repair, negative regulation of transcription by RNA polymerase II, 67 72 110 149 128 149 162 96 136 ENSG00000182983 chr3 42905731 42917641 + ZNF662 protein_coding 389114 GO:0000785, chromatin, GO:0046872, GO:0003700, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 4 4 6 0 2 1 8 ENSG00000182985 chr11 115169218 115504957 - CADM1 protein_coding 23705 GO:0045202, GO:0016323, GO:0016021, GO:0005911, GO:0005886, GO:0005886, synapse, basolateral plasma membrane, integral component of membrane, cell-cell junction, plasma membrane, plasma membrane, GO:0042803, GO:0030165, GO:0005515, GO:0005102, GO:0005102, protein homodimerization activity, PDZ domain binding, protein binding, signaling receptor binding, signaling receptor binding, GO:0051606, GO:0051606, GO:0050798, GO:0045954, GO:0045954, GO:0042271, GO:0042271, GO:0042271, GO:0034332, GO:0030154, GO:0016032, GO:0008037, GO:0008037, GO:0007283, GO:0007275, GO:0007157, GO:0007156, GO:0006915, GO:0001913, GO:0001819, detection of stimulus, detection of stimulus, activated T cell proliferation, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of natural killer cell mediated cytotoxicity, susceptibility to natural killer cell mediated cytotoxicity, susceptibility to natural killer cell mediated cytotoxicity, susceptibility to natural killer cell mediated cytotoxicity, adherens junction organization, cell differentiation, viral process, cell recognition, cell recognition, spermatogenesis, multicellular organism development, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, apoptotic process, T cell mediated cytotoxicity, positive regulation of cytokine production, 3 2 6 8 0 11 3 2 5 ENSG00000182986 chr19 52863790 52897693 - ZNF320 protein_coding ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002]. 162967 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 2 3 3 2 11 3 1 0 ENSG00000182993 chr12 14803572 14906586 + C12orf60 protein_coding 144608 GO:0005515, protein binding, 12 8 3 3 13 4 6 19 9 ENSG00000183010 chr17 81932384 81942412 - PYCR1 protein_coding This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 5831 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0042802, GO:0005515, GO:0004735, GO:0004735, identical protein binding, protein binding, pyrroline-5-carboxylate reductase activity, pyrroline-5-carboxylate reductase activity, GO:1903206, GO:0055129, GO:0055129, GO:0055114, GO:0051881, GO:0034599, GO:0008652, GO:0006561, negative regulation of hydrogen peroxide-induced cell death, L-proline biosynthetic process, L-proline biosynthetic process, oxidation-reduction process, regulation of mitochondrial membrane potential, cellular response to oxidative stress, cellular amino acid biosynthetic process, proline biosynthetic process, 1 0 0 2 0 0 4 2 4 ENSG00000183011 chr17 7856685 7885238 - NAA38 protein_coding 84316 GO:0031417, GO:0005844, GO:0005737, GO:0005654, GO:0005634, NatC complex, polysome, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0043066, negative regulation of apoptotic process, 243 115 183 348 369 572 375 213 358 ENSG00000183018 chr17 4498838 4539035 + SPNS2 protein_coding The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]. 124976 GO:0016021, GO:0010008, GO:0005886, integral component of membrane, endosome membrane, plasma membrane, GO:0046624, GO:0022857, sphingolipid transporter activity, transmembrane transporter activity, GO:0072676, GO:0060348, GO:0055085, GO:0048535, GO:0048073, GO:0043029, GO:0006869, GO:0006665, GO:0003376, GO:0002920, GO:0001782, lymphocyte migration, bone development, transmembrane transport, lymph node development, regulation of eye pigmentation, T cell homeostasis, lipid transport, sphingolipid metabolic process, sphingosine-1-phosphate receptor signaling pathway, regulation of humoral immune response, B cell homeostasis, 60 54 101 23 70 63 46 36 49 ENSG00000183019 chr19 7676628 7679826 + MCEMP1 protein_coding This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]. 199675 GO:0070821, GO:0035579, GO:0016021, GO:0005886, tertiary granule membrane, specific granule membrane, integral component of membrane, plasma membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0043312, neutrophil degranulation, 241 406 405 74 259 135 114 243 134 ENSG00000183020 chr11 924894 1012245 + AP2A2 protein_coding The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]. 161 GO:0101003, GO:0045334, GO:0036020, GO:0031410, GO:0030669, GO:0030667, GO:0030666, GO:0030122, GO:0030122, GO:0030122, GO:0005886, GO:0005829, ficolin-1-rich granule membrane, clathrin-coated endocytic vesicle, endolysosome membrane, cytoplasmic vesicle, clathrin-coated endocytic vesicle membrane, secretory granule membrane, endocytic vesicle membrane, AP-2 adaptor complex, AP-2 adaptor complex, AP-2 adaptor complex, plasma membrane, cytosol, GO:0140312, GO:0097718, GO:0035615, GO:0035615, GO:0019901, GO:0008289, GO:0005515, GO:0003674, cargo adaptor activity, disordered domain specific binding, clathrin adaptor activity, clathrin adaptor activity, protein kinase binding, lipid binding, protein binding, molecular_function, GO:0072583, GO:0072583, GO:0072583, GO:0072583, GO:0061024, GO:0060071, GO:0050690, GO:0048013, GO:0043312, GO:0034383, GO:0032802, GO:0019886, GO:0006898, GO:0006886, clathrin-dependent endocytosis, clathrin-dependent endocytosis, clathrin-dependent endocytosis, clathrin-dependent endocytosis, membrane organization, Wnt signaling pathway, planar cell polarity pathway, regulation of defense response to virus by virus, ephrin receptor signaling pathway, neutrophil degranulation, low-density lipoprotein particle clearance, low-density lipoprotein particle receptor catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class II, receptor-mediated endocytosis, intracellular protein transport, 49 71 56 40 84 13 47 38 26 ENSG00000183022 chr2 230573167 230573809 - TPM3P8 processed_pseudogene 1 1 1 0 0 2 0 0 1 ENSG00000183023 chr2 40097270 40611053 - SLC8A1 protein_coding In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]. 6546 GO:0099055, GO:0098794, GO:0071944, GO:0045202, GO:0045202, GO:0043679, GO:0043198, GO:0043197, GO:0043025, GO:0042383, GO:0042383, GO:0030425, GO:0030424, GO:0030424, GO:0030315, GO:0030315, GO:0030018, GO:0016020, GO:0014704, GO:0014704, GO:0014069, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005874, GO:0005739, GO:0005654, integral component of postsynaptic membrane, postsynapse, cell periphery, synapse, synapse, axon terminus, dendritic shaft, dendritic spine, neuronal cell body, sarcolemma, sarcolemma, dendrite, axon, axon, T-tubule, T-tubule, Z disc, membrane, intercalated disc, intercalated disc, postsynaptic density, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, microtubule, mitochondrion, nucleoplasm, GO:1905060, GO:0099580, GO:0044325, GO:0030506, GO:0030506, GO:0015491, GO:0008092, GO:0005516, GO:0005515, GO:0005509, GO:0005432, GO:0005432, GO:0005432, calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration, ion antiporter activity involved in regulation of postsynaptic membrane potential, ion channel binding, ankyrin binding, ankyrin binding, cation:cation antiporter activity, cytoskeletal protein binding, calmodulin binding, protein binding, calcium ion binding, calcium:sodium antiporter activity, calcium:sodium antiporter activity, calcium:sodium antiporter activity, GO:1903779, GO:0099566, GO:0098735, GO:0098719, GO:0098703, GO:0086064, GO:0086012, GO:0071901, GO:0071456, GO:0071320, GO:0071313, GO:0070588, GO:0070588, GO:0070509, GO:0060402, GO:0060401, GO:0060048, GO:0055119, GO:0055119, GO:0055074, GO:0055013, GO:0051481, GO:0044557, GO:0042542, GO:0042493, GO:0036376, GO:0035994, GO:0035902, GO:0035725, GO:0035725, GO:0035725, GO:0033198, GO:0030501, GO:0030001, GO:0021537, GO:0014829, GO:0010882, GO:0010881, GO:0010881, GO:0010763, GO:0010649, GO:0010468, GO:0009749, GO:0007584, GO:0006936, GO:0006883, GO:0006874, GO:0006811, GO:0002028, GO:0002027, GO:0002026, GO:0002026, regulation of cardiac conduction, regulation of postsynaptic cytosolic calcium ion concentration, positive regulation of the force of heart contraction, sodium ion import across plasma membrane, calcium ion import across plasma membrane, cell communication by electrical coupling involved in cardiac conduction, membrane depolarization during cardiac muscle cell action potential, negative regulation of protein serine/threonine kinase activity, cellular response to hypoxia, cellular response to cAMP, cellular response to caffeine, calcium ion transmembrane transport, calcium ion transmembrane transport, calcium ion import, calcium ion transport into cytosol, cytosolic calcium ion transport, cardiac muscle contraction, relaxation of cardiac muscle, relaxation of cardiac muscle, calcium ion homeostasis, cardiac muscle cell development, negative regulation of cytosolic calcium ion concentration, relaxation of smooth muscle, response to hydrogen peroxide, response to drug, sodium ion export across plasma membrane, response to muscle stretch, response to immobilization stress, sodium ion transmembrane transport, sodium ion transmembrane transport, sodium ion transmembrane transport, response to ATP, positive regulation of bone mineralization, metal ion transport, telencephalon development, vascular associated smooth muscle contraction, regulation of cardiac muscle contraction by calcium ion signaling, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, positive regulation of fibroblast migration, regulation of cell communication by electrical coupling, regulation of gene expression, response to glucose, response to nutrient, muscle contraction, cellular sodium ion homeostasis, cellular calcium ion homeostasis, ion transport, regulation of sodium ion transport, regulation of heart rate, regulation of the force of heart contraction, regulation of the force of heart contraction, 919 752 849 351 611 602 535 512 522 ENSG00000183024 chr17 3126584 3127581 - OR1G1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 8390 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000183032 chr14 36678431 37172866 - SLC25A21 protein_coding SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]. 89874 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, GO:0015139, GO:0015139, GO:0005347, alpha-ketoglutarate transmembrane transporter activity, alpha-ketoglutarate transmembrane transporter activity, ATP transmembrane transporter activity, GO:0055085, GO:0015867, GO:0015742, GO:0006554, transmembrane transport, ATP transport, alpha-ketoglutarate transport, lysine catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000183034 chr17 74924275 74933912 + OTOP2 protein_coding 92736 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015252, GO:0005515, proton channel activity, protein binding, GO:1902600, proton transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000183035 chrX 83861126 83886699 + CYLC1 protein_coding This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 1538 GO:0043159, GO:0043159, GO:0033150, GO:0005634, acrosomal matrix, acrosomal matrix, cytoskeletal calyx, nucleus, GO:0005200, GO:0005198, structural constituent of cytoskeleton, structural molecule activity, GO:0030154, GO:0007283, GO:0007275, GO:0007010, cell differentiation, spermatogenesis, multicellular organism development, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000183036 chr21 39867317 39929397 + PCP4 protein_coding 5121 GO:0032991, GO:0005829, GO:0005737, GO:0005634, protein-containing complex, cytosol, cytoplasm, nucleus, GO:0005516, GO:0005516, GO:0005516, GO:0005515, GO:0005509, GO:0005509, calmodulin binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, calcium ion binding, GO:0099004, GO:0045666, calmodulin dependent kinase signaling pathway, positive regulation of neuron differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000183044 chr16 8674565 8784575 + ABAT protein_coding 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]. 18 GO:0043005, GO:0032144, GO:0005759, GO:0005739, GO:0005739, GO:0005739, neuron projection, 4-aminobutyrate transaminase complex, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0051536, GO:0047298, GO:0046872, GO:0042802, GO:0034386, GO:0032145, GO:0030170, GO:0030170, GO:0003867, iron-sulfur cluster binding, (S)-3-amino-2-methylpropionate transaminase activity, metal ion binding, identical protein binding, 4-aminobutyrate:2-oxoglutarate transaminase activity, succinate-semialdehyde dehydrogenase binding, pyridoxal phosphate binding, pyridoxal phosphate binding, 4-aminobutyrate transaminase activity, GO:1904450, GO:1902722, GO:0097151, GO:0090331, GO:0070474, GO:0048148, GO:0045964, GO:0045776, GO:0045471, GO:0042493, GO:0042135, GO:0035640, GO:0035094, GO:0033602, GO:0032024, GO:0031652, GO:0021549, GO:0014053, GO:0010039, GO:0009450, GO:0009449, GO:0009448, GO:0007626, GO:0007620, GO:0007568, GO:0001666, positive regulation of aspartate secretion, positive regulation of prolactin secretion, positive regulation of inhibitory postsynaptic potential, negative regulation of platelet aggregation, positive regulation of uterine smooth muscle contraction, behavioral response to cocaine, positive regulation of dopamine metabolic process, negative regulation of blood pressure, response to ethanol, response to drug, neurotransmitter catabolic process, exploration behavior, response to nicotine, negative regulation of dopamine secretion, positive regulation of insulin secretion, positive regulation of heat generation, cerebellum development, negative regulation of gamma-aminobutyric acid secretion, response to iron ion, gamma-aminobutyric acid catabolic process, gamma-aminobutyric acid biosynthetic process, gamma-aminobutyric acid metabolic process, locomotory behavior, copulation, aging, response to hypoxia, 626 363 512 382 322 344 364 235 288 ENSG00000183048 chr17 81712236 81721016 + SLC25A10 protein_coding This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. 1468 GO:0016021, GO:0005743, GO:0005739, GO:0005654, GO:0005634, integral component of membrane, mitochondrial inner membrane, mitochondrion, nucleoplasm, nucleus, GO:0015297, GO:0015141, GO:0015140, GO:0015131, GO:0015117, GO:0015116, GO:0005515, GO:0005310, antiporter activity, succinate transmembrane transporter activity, malate transmembrane transporter activity, oxaloacetate transmembrane transporter activity, thiosulfate transmembrane transporter activity, sulfate transmembrane transporter activity, protein binding, dicarboxylic acid transmembrane transporter activity, GO:1902358, GO:1902356, GO:0071423, GO:0071422, GO:0070221, GO:0035435, GO:0015729, GO:0015709, GO:0008272, GO:0006839, GO:0006835, GO:0006811, GO:0006094, sulfate transmembrane transport, oxaloacetate(2-) transmembrane transport, malate transmembrane transport, succinate transmembrane transport, sulfide oxidation, using sulfide:quinone oxidoreductase, phosphate ion transmembrane transport, oxaloacetate transport, thiosulfate transport, sulfate transport, mitochondrial transport, dicarboxylic acid transport, ion transport, gluconeogenesis, 0 0 0 0 5 0 0 2 1 ENSG00000183049 chr10 12349482 12835545 + CAMK1D protein_coding This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]. 57118 GO:0005737, GO:0005737, GO:0005634, GO:0005622, cytoplasm, cytoplasm, nucleus, intracellular anatomical structure, GO:0005524, GO:0005516, GO:0004683, GO:0004683, ATP binding, calmodulin binding, calmodulin-dependent protein kinase activity, calmodulin-dependent protein kinase activity, GO:0090023, GO:0071622, GO:0060267, GO:0050773, GO:0050766, GO:0043066, GO:0043065, GO:0032793, GO:0018105, GO:0010976, GO:0006954, positive regulation of neutrophil chemotaxis, regulation of granulocyte chemotaxis, positive regulation of respiratory burst, regulation of dendrite development, positive regulation of phagocytosis, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of CREB transcription factor activity, peptidyl-serine phosphorylation, positive regulation of neuron projection development, inflammatory response, 1599 1937 2186 724 1257 1168 833 1031 1166 ENSG00000183054 chr2 110513812 110577185 - RGPD6 protein_coding 729540 GO:0005737, GO:0005643, cytoplasm, nuclear pore, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0043547, GO:0006607, positive regulation of GTPase activity, NLS-bearing protein import into nucleus, 7 8 2 7 4 4 27 5 30 ENSG00000183055 chr10 58715554 58716257 + FAM133CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183060 chr15 99715697 99733561 - LYSMD4 protein_coding 145748 GO:0016021, integral component of membrane, 78 49 61 87 49 109 89 28 64 ENSG00000183066 chr22 41998725 42058456 + WBP2NL protein_coding WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]. 164684 GO:0061827, GO:0036126, GO:0033011, GO:0005634, sperm head, sperm flagellum, perinuclear theca, nucleus, GO:0050699, GO:0031490, GO:0005515, GO:0003713, WW domain binding, chromatin DNA binding, protein binding, transcription coactivator activity, GO:0051480, GO:0051321, GO:0045893, GO:0035039, GO:0035038, GO:0007343, regulation of cytosolic calcium ion concentration, meiotic cell cycle, positive regulation of transcription, DNA-templated, male pronucleus assembly, female pronucleus assembly, egg activation, 2 3 4 4 0 5 0 0 1 ENSG00000183067 chr21 39745407 39802096 + IGSF5 protein_coding 150084 GO:0016324, GO:0016021, GO:0009986, GO:0005923, apical plasma membrane, integral component of membrane, cell surface, bicellular tight junction, GO:0098609, cell-cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000183072 chr5 173232109 173235357 - NKX2-5 protein_coding This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 1482 GO:0090575, GO:0032993, GO:0032991, GO:0005737, GO:0005667, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, protein-DNA complex, protein-containing complex, cytoplasm, transcription regulator complex, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0042803, GO:0008134, GO:0005515, GO:0003700, GO:0003700, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein homodimerization activity, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1903779, GO:0090090, GO:0060971, GO:0060929, GO:0060928, GO:0060413, GO:0060412, GO:0060347, GO:0060261, GO:0060048, GO:0060043, GO:0060038, GO:0060037, GO:0055117, GO:0055015, GO:0055014, GO:0055008, GO:0055007, GO:0055005, GO:0051891, GO:0048536, GO:0048536, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045823, GO:0045666, GO:0045214, GO:0043066, GO:0035050, GO:0030878, GO:0030154, GO:0030154, GO:0030097, GO:0010832, GO:0010765, GO:0010735, GO:0010667, GO:0008284, GO:0007512, GO:0006357, GO:0003350, GO:0003342, GO:0003285, GO:0003278, GO:0003222, GO:0003221, GO:0003211, GO:0003168, GO:0003166, GO:0003161, GO:0003148, GO:0003007, GO:0001947, GO:0001570, GO:0000122, GO:0000122, regulation of cardiac conduction, negative regulation of canonical Wnt signaling pathway, embryonic heart tube left/right pattern formation, atrioventricular node cell fate commitment, atrioventricular node cell development, atrial septum morphogenesis, ventricular septum morphogenesis, heart trabecula formation, positive regulation of transcription initiation from RNA polymerase II promoter, cardiac muscle contraction, regulation of cardiac muscle cell proliferation, cardiac muscle cell proliferation, pharyngeal system development, regulation of cardiac muscle contraction, ventricular cardiac muscle cell development, atrial cardiac muscle cell development, cardiac muscle tissue morphogenesis, cardiac muscle cell differentiation, ventricular cardiac myofibril assembly, positive regulation of cardioblast differentiation, spleen development, spleen development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of heart contraction, positive regulation of neuron differentiation, sarcomere organization, negative regulation of apoptotic process, embryonic heart tube development, thyroid gland development, cell differentiation, cell differentiation, hemopoiesis, negative regulation of myotube differentiation, positive regulation of sodium ion transport, positive regulation of transcription via serum response element binding, negative regulation of cardiac muscle cell apoptotic process, positive regulation of cell population proliferation, adult heart development, regulation of transcription by RNA polymerase II, pulmonary myocardium development, proepicardium development, septum secundum development, apoptotic process involved in heart morphogenesis, ventricular trabecula myocardium morphogenesis, right ventricular cardiac muscle tissue morphogenesis, cardiac ventricle formation, Purkinje myocyte differentiation, bundle of His development, cardiac conduction system development, outflow tract septum morphogenesis, heart morphogenesis, heart looping, vasculogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000183077 chr17 78187317 78207701 + AFMID protein_coding 125061 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0016787, GO:0005515, GO:0004061, hydrolase activity, protein binding, arylformamidase activity, GO:0034354, GO:0019441, GO:0019441, GO:0009435, 'de novo' NAD biosynthetic process from tryptophan, tryptophan catabolic process to kynurenine, tryptophan catabolic process to kynurenine, NAD biosynthetic process, 4 2 3 10 5 11 5 11 3 ENSG00000183087 chr13 113820549 113864067 - GAS6 protein_coding This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]. 2621 GO:0070062, GO:0031093, GO:0005796, GO:0005788, GO:0005737, GO:0005615, GO:0005576, extracellular exosome, platelet alpha granule lumen, Golgi lumen, endoplasmic reticulum lumen, cytoplasm, extracellular space, extracellular region, GO:0048018, GO:0048018, GO:0043027, GO:0030971, GO:0030674, GO:0030296, GO:0005515, GO:0005509, GO:0005102, GO:0005102, GO:0001786, receptor ligand activity, receptor ligand activity, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, receptor tyrosine kinase binding, protein-macromolecule adaptor activity, protein tyrosine kinase activator activity, protein binding, calcium ion binding, signaling receptor binding, signaling receptor binding, phosphatidylserine binding, GO:2000669, GO:2000533, GO:2000510, GO:2000352, GO:2000270, GO:1900142, GO:0097241, GO:0097028, GO:0085029, GO:0072659, GO:0071363, GO:0071333, GO:0071307, GO:0070588, GO:0070374, GO:0070168, GO:0061098, GO:0051897, GO:0050900, GO:0050766, GO:0048146, GO:0046827, GO:0046813, GO:0046718, GO:0045892, GO:0045860, GO:0044267, GO:0043687, GO:0043491, GO:0043491, GO:0043433, GO:0043277, GO:0043154, GO:0043066, GO:0040008, GO:0035754, GO:0035690, GO:0035457, GO:0033138, GO:0032825, GO:0032720, GO:0032715, GO:0032692, GO:0032689, GO:0032148, GO:0032008, GO:0031589, GO:0031100, GO:0019079, GO:0019064, GO:0018105, GO:0010934, GO:0010804, GO:0010628, GO:0009267, GO:0007596, GO:0007167, GO:0007165, GO:0006915, GO:0006909, GO:0006888, GO:0006468, GO:0003104, GO:0002576, GO:0001961, GO:0001934, GO:0001934, GO:0001764, negative regulation of dendritic cell apoptotic process, negative regulation of renal albumin absorption, positive regulation of dendritic cell chemotaxis, negative regulation of endothelial cell apoptotic process, negative regulation of fibroblast apoptotic process, negative regulation of oligodendrocyte apoptotic process, hematopoietic stem cell migration to bone marrow, dendritic cell differentiation, extracellular matrix assembly, protein localization to plasma membrane, cellular response to growth factor stimulus, cellular response to glucose stimulus, cellular response to vitamin K, calcium ion transmembrane transport, positive regulation of ERK1 and ERK2 cascade, negative regulation of biomineral tissue development, positive regulation of protein tyrosine kinase activity, positive regulation of protein kinase B signaling, leukocyte migration, positive regulation of phagocytosis, positive regulation of fibroblast proliferation, positive regulation of protein export from nucleus, receptor-mediated virion attachment to host cell, viral entry into host cell, negative regulation of transcription, DNA-templated, positive regulation of protein kinase activity, cellular protein metabolic process, post-translational protein modification, protein kinase B signaling, protein kinase B signaling, negative regulation of DNA-binding transcription factor activity, apoptotic cell clearance, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, regulation of growth, B cell chemotaxis, cellular response to drug, cellular response to interferon-alpha, positive regulation of peptidyl-serine phosphorylation, positive regulation of natural killer cell differentiation, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 production, negative regulation of interferon-gamma production, activation of protein kinase B activity, positive regulation of TOR signaling, cell-substrate adhesion, animal organ regeneration, viral genome replication, fusion of virus membrane with host plasma membrane, peptidyl-serine phosphorylation, macrophage cytokine production, negative regulation of tumor necrosis factor-mediated signaling pathway, positive regulation of gene expression, cellular response to starvation, blood coagulation, enzyme linked receptor protein signaling pathway, signal transduction, apoptotic process, phagocytosis, endoplasmic reticulum to Golgi vesicle-mediated transport, protein phosphorylation, positive regulation of glomerular filtration, platelet degranulation, positive regulation of cytokine-mediated signaling pathway, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, neuron migration, 6 7 5 25 5 20 24 4 21 ENSG00000183090 chr4 143577302 143700675 - FREM3 protein_coding This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]. 166752 GO:0062023, GO:0016021, GO:0005615, GO:0005604, collagen-containing extracellular matrix, integral component of membrane, extracellular space, basement membrane, GO:0046872, metal ion binding, GO:0007155, GO:0007154, cell adhesion, cell communication, 0 0 0 0 1 0 0 0 0 ENSG00000183091 chr2 151485336 151734487 - NEB protein_coding This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]. 4703 GO:0070062, GO:0030018, GO:0030018, GO:0015629, GO:0005829, extracellular exosome, Z disc, Z disc, actin cytoskeleton, cytosol, GO:0051015, GO:0008307, GO:0005515, actin filament binding, structural constituent of muscle, protein binding, GO:0071691, GO:0048747, GO:0030832, GO:0030049, GO:0007525, GO:0007517, cardiac muscle thin filament assembly, muscle fiber development, regulation of actin filament length, muscle filament sliding, somatic muscle development, muscle organ development, 57 48 62 51 73 74 82 47 43 ENSG00000183092 chr14 100537147 100587413 - BEGAIN protein_coding 57596 GO:0045202, GO:0016020, GO:0005737, synapse, membrane, cytoplasm, GO:0005515, protein binding, GO:0098962, regulation of postsynaptic neurotransmitter receptor activity, 33 44 3 13 31 2 33 26 1 ENSG00000183098 chr13 93226842 94407401 + GPC6 protein_coding The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]. 10082 GO:0062023, GO:0046658, GO:0045202, GO:0043202, GO:0009986, GO:0005886, GO:0005796, GO:0005634, GO:0005615, GO:0005576, collagen-containing extracellular matrix, anchored component of plasma membrane, synapse, lysosomal lumen, cell surface, plasma membrane, Golgi lumen, nucleus, extracellular space, extracellular region, GO:1904929, GO:0005515, coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway, protein binding, GO:1905606, GO:1905475, GO:0099560, GO:0098696, GO:0060071, GO:0016477, GO:0016477, GO:0009966, GO:0006027, GO:0006024, GO:0001523, regulation of presynapse assembly, regulation of protein localization to membrane, synaptic membrane adhesion, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane, Wnt signaling pathway, planar cell polarity pathway, cell migration, cell migration, regulation of signal transduction, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, retinoid metabolic process, 1 0 0 0 0 0 0 0 0 ENSG00000183111 chr5 149551947 149634968 + ARHGEF37 protein_coding 389337 GO:0005737, cytoplasm, GO:0005085, guanyl-nucleotide exchange factor activity, 0 0 1 9 2 0 3 3 3 ENSG00000183114 chr1 20552439 20555010 + FAM43B protein_coding 163933 0 0 0 0 0 0 0 0 0 ENSG00000183117 chr8 2935353 4994972 - CSMD1 protein_coding 64478 GO:0016021, integral component of membrane, GO:1990708, GO:0042593, GO:0007613, GO:0001964, conditioned place preference, glucose homeostasis, memory, startle response, 0 0 0 0 0 0 0 0 0 ENSG00000183122 chr7 144153486 144158905 + OR2A3P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183128 chr10 103472804 103479240 - CALHM3 protein_coding 119395 GO:0016323, GO:0005887, basolateral plasma membrane, integral component of plasma membrane, GO:0005515, GO:0005261, GO:0005244, protein binding, cation channel activity, voltage-gated ion channel activity, GO:0098655, GO:0051291, GO:0050909, GO:0050896, cation transmembrane transport, protein heterooligomerization, sensory perception of taste, response to stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000183134 chr11 60850940 60855971 - PTGDR2 protein_coding This gene encodes a G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011]. 11251 GO:0043005, GO:0005887, GO:0005886, neuron projection, integral component of plasma membrane, plasma membrane, GO:0042923, GO:0042277, GO:0004956, GO:0004956, GO:0004930, GO:0004930, neuropeptide binding, peptide binding, prostaglandin D receptor activity, prostaglandin D receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0019722, GO:0007218, GO:0007186, GO:0007186, GO:0006955, GO:0006935, calcium-mediated signaling, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, chemotaxis, 55 53 193 2 3 9 3 1 0 ENSG00000183137 chr6 109095110 109163932 + CEP57L1 protein_coding 285753 GO:0005874, GO:0005813, GO:0005737, GO:0005575, microtubule, centrosome, cytoplasm, cellular_component, GO:0043015, GO:0042802, GO:0008017, GO:0005515, GO:0003674, gamma-tubulin binding, identical protein binding, microtubule binding, protein binding, molecular_function, GO:0008150, biological_process, 16 8 7 22 10 53 9 10 13 ENSG00000183145 chr21 37006150 37019659 + RIPPLY3 protein_coding 53820 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, GO:0060037, GO:0009880, GO:0008285, GO:0008150, GO:0007507, GO:0000122, pharyngeal system development, embryonic pattern specification, negative regulation of cell population proliferation, biological_process, heart development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000183146 chrY 21382954 21386360 - PRORY protein_coding 100533178 0 0 0 0 0 0 0 0 0 ENSG00000183148 chr9 40223285 40266392 + ANKRD20A2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000183150 chr12 12660891 12696207 - GPR19 protein_coding 2842 GO:0005929, GO:0005887, cilium, integral component of plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 8 23 8 7 23 31 14 14 16 ENSG00000183153 chr17 40362931 40363815 - GJD3 protein_coding This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]. 125111 GO:0009986, GO:0005922, GO:0005922, GO:0005887, cell surface, connexin complex, connexin complex, integral component of plasma membrane, GO:0086075, GO:0005515, GO:0005243, GO:0005216, gap junction channel activity involved in cardiac conduction electrical coupling, protein binding, gap junction channel activity, ion channel activity, GO:0086065, GO:0086064, GO:0034220, GO:0016264, GO:0009749, GO:0007267, GO:0007154, cell communication involved in cardiac conduction, cell communication by electrical coupling involved in cardiac conduction, ion transmembrane transport, gap junction assembly, response to glucose, cell-cell signaling, cell communication, 0 5 0 0 0 1 0 1 0 ENSG00000183154 chr8 37734761 37737426 - AC138356.1 antisense 102723701 21 24 14 62 62 90 50 53 46 ENSG00000183155 chr1 202878957 202889135 - RABIF protein_coding This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011]. 5877 GO:0016020, GO:0005829, membrane, cytosol, GO:0008270, GO:0008270, GO:0005515, GO:0005085, GO:0005085, zinc ion binding, zinc ion binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0061025, GO:0015031, GO:0007264, GO:0006892, membrane fusion, protein transport, small GTPase mediated signal transduction, post-Golgi vesicle-mediated transport, 209 163 212 90 159 91 123 128 97 ENSG00000183160 chr12 108589846 108598320 - TMEM119 protein_coding 338773 GO:0016021, GO:0005886, GO:0005886, GO:0005789, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0003674, molecular_function, GO:1903012, GO:0048515, GO:0045779, GO:0045669, GO:0045669, GO:0033690, GO:0033690, GO:0031214, GO:0030501, GO:0030501, GO:0010832, GO:0010628, GO:0007283, GO:0001958, GO:0001934, GO:0001649, positive regulation of bone development, spermatid differentiation, negative regulation of bone resorption, positive regulation of osteoblast differentiation, positive regulation of osteoblast differentiation, positive regulation of osteoblast proliferation, positive regulation of osteoblast proliferation, biomineral tissue development, positive regulation of bone mineralization, positive regulation of bone mineralization, negative regulation of myotube differentiation, positive regulation of gene expression, spermatogenesis, endochondral ossification, positive regulation of protein phosphorylation, osteoblast differentiation, 55 50 61 43 86 43 33 32 78 ENSG00000183161 chr11 22622890 22625841 - FANCF protein_coding The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008]. 2188 GO:0043240, GO:0043240, GO:0005654, GO:0005654, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0036297, GO:0008150, GO:0006974, interstrand cross-link repair, biological_process, cellular response to DNA damage stimulus, 16 16 27 12 7 27 8 9 12 ENSG00000183166 chr7 71779491 72447151 - CALN1 protein_coding This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 83698 GO:0048471, GO:0032588, GO:0016021, GO:0005886, perinuclear region of cytoplasm, trans-Golgi network membrane, integral component of membrane, plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000183169 chr22 22639177 22644473 - POM121L1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183171 chrX 150114378 150116520 + BX322650.1 processed_pseudogene 1 1 5 5 1 2 2 3 0 ENSG00000183172 chr22 42079691 42084284 + SMDT1 protein_coding This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]. 91689 GO:1990246, GO:1990246, GO:0031305, GO:0031305, GO:0005759, GO:0005743, GO:0005739, GO:0005654, uniplex complex, uniplex complex, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrial matrix, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0005515, protein binding, GO:0051560, GO:0051560, GO:0036444, GO:0036444, GO:0006851, GO:0006851, mitochondrial calcium ion homeostasis, mitochondrial calcium ion homeostasis, calcium import into the mitochondrion, calcium import into the mitochondrion, mitochondrial calcium ion transmembrane transport, mitochondrial calcium ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000183185 chr3 97986673 98035304 - GABRR3 protein_coding The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]. 200959 GO:1902711, GO:0045211, GO:0045202, GO:0043005, GO:0034707, GO:0005887, GO:0005886, GO:0005575, GABA-A receptor complex, postsynaptic membrane, synapse, neuron projection, chloride channel complex, integral component of plasma membrane, plasma membrane, cellular_component, GO:0030594, GO:0019904, GO:0005254, GO:0005230, GO:0004890, GO:0004890, neurotransmitter receptor activity, protein domain specific binding, chloride channel activity, extracellular ligand-gated ion channel activity, GABA-A receptor activity, GABA-A receptor activity, GO:1902476, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007268, GO:0007214, GO:0007165, chloride transmembrane transport, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000183186 chr19 405438 409170 - C2CD4C protein_coding 126567 GO:0005829, cytosol, 0 0 0 0 0 0 0 0 0 ENSG00000183196 chr16 75472052 75495445 - CHST6 protein_coding The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]. 4166 GO:0016021, GO:0005802, GO:0005794, GO:0000139, integral component of membrane, trans-Golgi network, Golgi apparatus, Golgi membrane, GO:0001517, GO:0001517, GO:0001517, N-acetylglucosamine 6-O-sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, N-acetylglucosamine 6-O-sulfotransferase activity, GO:0018146, GO:0018146, GO:0018146, GO:0006790, GO:0006790, GO:0006044, GO:0006044, GO:0006044, GO:0005975, keratan sulfate biosynthetic process, keratan sulfate biosynthetic process, keratan sulfate biosynthetic process, sulfur compound metabolic process, sulfur compound metabolic process, N-acetylglucosamine metabolic process, N-acetylglucosamine metabolic process, N-acetylglucosamine metabolic process, carbohydrate metabolic process, 0 0 0 0 0 0 1 0 0 ENSG00000183199 chr4 87891843 87894015 + HSP90AB3P processed_pseudogene 3 2 6 25 24 11 7 6 13 ENSG00000183206 chr18 14507339 14543585 - POTEC protein_coding 388468 0 0 0 0 0 0 0 0 0 ENSG00000183207 chr19 48993448 49015995 + RUVBL2 protein_coding This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]. 10856 GO:1990904, GO:0097255, GO:0097255, GO:0071339, GO:0070062, GO:0035267, GO:0035267, GO:0031011, GO:0031011, GO:0016363, GO:0016020, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000812, GO:0000812, GO:0000791, ribonucleoprotein complex, R2TP complex, R2TP complex, MLL1 complex, extracellular exosome, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, Ino80 complex, Ino80 complex, nuclear matrix, membrane, cytosol, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, Swr1 complex, Swr1 complex, euchromatin, GO:0051117, GO:0051082, GO:0043531, GO:0043139, GO:0042803, GO:0042802, GO:0042802, GO:0031490, GO:0017025, GO:0016887, GO:0008013, GO:0005524, GO:0005515, GO:0003714, GO:0003678, GO:0003678, GO:0001094, GO:0000979, GO:0000978, ATPase binding, unfolded protein binding, ADP binding, 5'-3' DNA helicase activity, protein homodimerization activity, identical protein binding, identical protein binding, chromatin DNA binding, TBP-class protein binding, ATPase activity, beta-catenin binding, ATP binding, protein binding, transcription corepressor activity, DNA helicase activity, DNA helicase activity, TFIID-class transcription factor complex binding, RNA polymerase II core promoter sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1904874, GO:1903507, GO:0090090, GO:0071899, GO:0071733, GO:0071392, GO:0071169, GO:0045944, GO:0043968, GO:0043967, GO:0040008, GO:0035066, GO:0034644, GO:0032508, GO:0016573, GO:0006457, GO:0006357, GO:0006338, GO:0006338, GO:0006310, GO:0006281, GO:0000492, positive regulation of telomerase RNA localization to Cajal body, negative regulation of nucleic acid-templated transcription, negative regulation of canonical Wnt signaling pathway, negative regulation of estrogen receptor binding, transcriptional activation by promoter-enhancer looping, cellular response to estradiol stimulus, establishment of protein localization to chromatin, positive regulation of transcription by RNA polymerase II, histone H2A acetylation, histone H4 acetylation, regulation of growth, positive regulation of histone acetylation, cellular response to UV, DNA duplex unwinding, histone acetylation, protein folding, regulation of transcription by RNA polymerase II, chromatin remodeling, chromatin remodeling, DNA recombination, DNA repair, box C/D snoRNP assembly, 40 40 56 59 46 32 44 36 53 ENSG00000183208 chr15 90233808 90245811 + GDPGP1 protein_coding 390637 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0080048, GO:0080048, GO:0016787, GO:0016779, GO:0005085, GO:0000166, GDP-D-glucose phosphorylase activity, GDP-D-glucose phosphorylase activity, hydrolase activity, nucleotidyltransferase activity, guanyl-nucleotide exchange factor activity, nucleotide binding, GO:0006006, GO:0006006, glucose metabolic process, glucose metabolic process, 177 200 207 74 119 146 90 112 122 ENSG00000183230 chr10 65912518 67696169 - CTNNA3 protein_coding This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 29119 GO:0030027, GO:0005916, GO:0005912, GO:0005856, GO:0005737, lamellipodium, fascia adherens, adherens junction, cytoskeleton, cytoplasm, GO:0051015, GO:0045296, GO:0008013, GO:0005515, actin filament binding, cadherin binding, beta-catenin binding, protein binding, GO:0098911, GO:0098609, GO:0086091, GO:0086073, regulation of ventricular cardiac muscle cell action potential, cell-cell adhesion, regulation of heart rate by cardiac conduction, bundle of His cell-Purkinje myocyte adhesion involved in cell communication, 0 0 0 1 0 0 0 0 0 ENSG00000183239 chr6 44089242 44089696 - AL109615.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183242 chr11 32435518 32458769 + WT1-AS bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000183246 chr22 21545357 21551461 - RIMBP3C protein_coding 150221 GO:0045202, GO:0005737, GO:0005634, GO:0005575, GO:0002177, synapse, cytoplasm, nucleus, cellular_component, manchette, GO:0030156, GO:0003674, benzodiazepine receptor binding, molecular_function, GO:0009566, GO:0008150, GO:0007286, GO:0007274, fertilization, biological_process, spermatid development, neuromuscular synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000183248 chr19 7868719 7874379 - PRR36 protein_coding This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse. [provided by RefSeq, Oct 2013]. 80164 0 0 0 0 0 0 0 0 0 ENSG00000183249 chr21 14000927 14005279 + NF1P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183250 chr21 44932814 44939913 - LINC01547 lincRNA 84536 GO:0005783, endoplasmic reticulum, 46 50 74 15 19 39 15 19 47 ENSG00000183251 chr11 5301014 5301946 - OR51B4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79339 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 2 0 0 ENSG00000183255 chr21 44849585 44873903 - PTTG1IP protein_coding This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]. 754 GO:0070062, GO:0016021, GO:0016020, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, integral component of membrane, membrane, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003674, GO:0002039, protein binding, molecular_function, p53 binding, GO:1903364, GO:1902254, GO:0043518, GO:0031398, GO:0006606, GO:0006606, positive regulation of cellular protein catabolic process, negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of protein ubiquitination, protein import into nucleus, protein import into nucleus, 1675 1288 1994 723 1106 855 741 835 728 ENSG00000183258 chr5 177511577 177517469 - DDX41 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]. 51428 GO:0071013, GO:0016020, GO:0005829, GO:0005783, GO:0005681, GO:0005634, catalytic step 2 spliceosome, membrane, cytosol, endoplasmic reticulum, spliceosomal complex, nucleus, GO:0046872, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003723, GO:0003677, metal ion binding, ATP binding, protein binding, RNA helicase activity, RNA binding, RNA binding, DNA binding, GO:0051607, GO:0045944, GO:0035458, GO:0032481, GO:0030154, GO:0008283, GO:0006915, GO:0000398, GO:0000398, GO:0000398, defense response to virus, positive regulation of transcription by RNA polymerase II, cellular response to interferon-beta, positive regulation of type I interferon production, cell differentiation, cell population proliferation, apoptotic process, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 237 209 295 297 254 344 223 220 243 ENSG00000183260 chr20 63861498 63862988 + ABHD16B protein_coding 140701 GO:0016020, membrane, GO:0047372, GO:0008474, GO:0004620, acylglycerol lipase activity, palmitoyl-(protein) hydrolase activity, phospholipase activity, GO:0098734, GO:0052651, GO:0006660, macromolecule depalmitoylation, monoacylglycerol catabolic process, phosphatidylserine catabolic process, 104 129 124 113 95 165 133 144 156 ENSG00000183269 chr11 5856674 5857734 - OR52E8 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390079 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183273 chr12 119334712 119541047 + CCDC60 protein_coding 160777 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000183281 chr2 87002559 87021852 - PLGLB1 protein_coding 5343 GO:0005576, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 52 37 30 51 87 31 63 67 39 ENSG00000183283 chr12 51238292 51271362 + DAZAP2 protein_coding This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 9802 GO:0032991, GO:0016607, GO:0005737, protein-containing complex, nuclear speck, cytoplasm, GO:0050699, GO:0043539, GO:0042802, GO:0031435, GO:0030971, GO:0005515, WW domain binding, protein serine/threonine kinase activator activity, identical protein binding, mitogen-activated protein kinase kinase kinase binding, receptor tyrosine kinase binding, protein binding, GO:0071902, positive regulation of protein serine/threonine kinase activity, 12934 14300 16530 5720 10555 7876 6711 9559 6998 ENSG00000183287 chr18 59430939 59697662 - CCBE1 protein_coding This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]. 147372 GO:0031012, GO:0005615, GO:0005581, extracellular matrix, extracellular space, collagen trimer, GO:0005518, GO:0005515, GO:0005509, GO:0002020, collagen binding, protein binding, calcium ion binding, protease binding, GO:1901492, GO:1900748, GO:0048845, GO:0045766, GO:0030324, GO:0010954, GO:0010595, GO:0010575, GO:0003016, GO:0002040, GO:0001946, GO:0001946, positive regulation of lymphangiogenesis, positive regulation of vascular endothelial growth factor signaling pathway, venous blood vessel morphogenesis, positive regulation of angiogenesis, lung development, positive regulation of protein processing, positive regulation of endothelial cell migration, positive regulation of vascular endothelial growth factor production, respiratory system process, sprouting angiogenesis, lymphangiogenesis, lymphangiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000183291 chr1 86862445 86914424 - SELENOF protein_coding The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glucosyltransferase (UGTR), an endoplasmic reticulum(ER)-resident protein, which is involved in the quality control of protein folding. The association with UGTR retains this protein in the ER, where it may play a role in protein folding. It has also been suggested to have a role in cancer etiology. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2016]. 9403 GO:0005788, GO:0005788, endoplasmic reticulum lumen, endoplasmic reticulum lumen, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, GO:0051084, oxidation-reduction process, 'de novo' posttranslational protein folding, 758 648 773 359 543 558 416 495 405 ENSG00000183292 chr2 130570829 130584161 + PRSS40A transcribed_unprocessed_pseudogene 150527 0 0 0 0 0 0 0 0 0 ENSG00000183298 chr1 101786340 101787219 - RPSAP19 processed_pseudogene 3 8 4 8 5 12 3 5 1 ENSG00000183303 chr11 7795905 7796973 - OR5P2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 120065 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183304 chrX 8790795 8801383 - FAM9A protein_coding This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]. 171482 GO:0005730, GO:0000795, nucleolus, synaptonemal complex, GO:0005515, protein binding, GO:0051321, GO:0007286, meiotic cell cycle, spermatid development, 0 0 0 0 0 0 0 0 0 ENSG00000183305 chrX 152714586 152718607 + MAGEA2B protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. [provided by RefSeq, Jul 2008]. 266740 GO:0016605, GO:0005634, PML body, nucleus, GO:0070491, GO:0042826, GO:0031625, GO:0005515, repressing transcription factor binding, histone deacetylase binding, ubiquitin protein ligase binding, protein binding, GO:1901984, GO:0090398, GO:0072331, GO:0051443, GO:0044257, GO:0033234, GO:0000122, negative regulation of protein acetylation, cellular senescence, signal transduction by p53 class mediator, positive regulation of ubiquitin-protein transferase activity, cellular protein catabolic process, negative regulation of protein sumoylation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000183307 chr22 17116299 17121367 - TMEM121B protein_coding 27439 52 75 116 14 69 46 21 67 58 ENSG00000183308 chr2 200963263 201009102 + AC005037.1 antisense 299 284 271 118 267 175 220 195 162 ENSG00000183309 chr8 143636013 143656418 + ZNF623 protein_coding 9831 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 7 7 4 1 3 6 6 7 0 ENSG00000183310 chr1 248573801 248574757 - OR2T34 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127068 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183313 chr11 5985892 5986985 - OR52L1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 338751 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183317 chr1 37713880 37765133 - EPHA10 protein_coding Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008]. 284656 GO:0043235, GO:0043005, GO:0005887, GO:0005886, GO:0005576, receptor complex, neuron projection, integral component of plasma membrane, plasma membrane, extracellular region, GO:0005524, GO:0005515, GO:0005005, GO:0004714, ATP binding, protein binding, transmembrane-ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, GO:0048013, GO:0033674, GO:0018108, GO:0008150, GO:0007411, GO:0007275, GO:0007169, ephrin receptor signaling pathway, positive regulation of kinase activity, peptidyl-tyrosine phosphorylation, biological_process, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, 0 0 0 4 0 1 2 0 0 ENSG00000183318 chr17 8753106 8758559 - SPDYE4 protein_coding 388333 GO:0019901, GO:0005515, protein kinase binding, protein binding, 4 5 1 9 8 17 14 9 0 ENSG00000183323 chr5 69280175 69332809 - CCDC125 protein_coding 202243 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:2000146, GO:2000146, GO:0090630, GO:0035024, GO:0035024, negative regulation of cell motility, negative regulation of cell motility, activation of GTPase activity, negative regulation of Rho protein signal transduction, negative regulation of Rho protein signal transduction, 120 20 66 70 40 62 36 30 44 ENSG00000183324 chr15 73443158 73560014 + REC114 protein_coding The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]. 283677 GO:0051321, GO:0006310, meiotic cell cycle, DNA recombination, 1 1 0 0 0 4 5 0 0 ENSG00000183336 chr16 29443056 29454964 - BOLA2 protein_coding This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2B (bolA family member 2B). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Related pseudogenes are found multiple different chromosomes. Alternative splicing results in multiple transcript variants. Transcripts initiating at this locus may extend into downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins with a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. A readthrough locus is represented with GeneID:107282092. [provided by RefSeq, Feb 2016]. 552900 GO:0005829, GO:0005829, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, nucleus, GO:0051536, GO:0005515, iron-sulfur cluster binding, protein binding, GO:0097428, GO:0044571, GO:0035722, GO:0006879, protein maturation by iron-sulfur cluster transfer, [2Fe-2S] cluster assembly, interleukin-12-mediated signaling pathway, cellular iron ion homeostasis, 17 0 26 0 0 2 11 1 32 ENSG00000183337 chrX 40049815 40177329 - BCOR protein_coding The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]. 54880 GO:0140261, GO:0005654, GO:0005634, BCOR complex, nucleoplasm, nucleus, GO:0042826, GO:0031072, GO:0008134, GO:0005515, GO:0004842, GO:0003714, GO:0003714, GO:0000977, GO:0000976, histone deacetylase binding, heat shock protein binding, transcription factor binding, protein binding, ubiquitin-protein transferase activity, transcription corepressor activity, transcription corepressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0070171, GO:0065001, GO:0060021, GO:0051572, GO:0045892, GO:0045892, GO:0042476, GO:0035518, GO:0030502, GO:0007507, GO:0001835, GO:0000415, GO:0000122, negative regulation of tooth mineralization, specification of axis polarity, roof of mouth development, negative regulation of histone H3-K4 methylation, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, odontogenesis, histone H2A monoubiquitination, negative regulation of bone mineralization, heart development, blastocyst hatching, negative regulation of histone H3-K36 methylation, negative regulation of transcription by RNA polymerase II, 226 227 423 117 118 195 107 110 134 ENSG00000183340 chr11 96389989 96507574 + JRKL protein_coding The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]. 8690 GO:0005634, nucleus, GO:0003677, DNA binding, GO:0007417, central nervous system development, 60 38 73 40 38 68 46 43 24 ENSG00000183346 chr10 61662961 61766766 + CABCOCO1 protein_coding 219621 GO:0036126, GO:0005813, GO:0005737, sperm flagellum, centrosome, cytoplasm, GO:0005515, GO:0005509, protein binding, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000183347 chr1 89364058 89386461 + GBP6 protein_coding Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]. 163351 GO:0070062, GO:0031410, extracellular exosome, cytoplasmic vesicle, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0071346, GO:0071346, GO:0050830, GO:0042832, GO:0042742, GO:0006955, cellular response to interferon-gamma, cellular response to interferon-gamma, defense response to Gram-positive bacterium, defense response to protozoan, defense response to bacterium, immune response, 3 13 22 4 10 6 3 4 10 ENSG00000183354 chr9 5881596 6007901 - KIAA2026 protein_coding 158358 804 950 1053 509 698 671 573 557 522 ENSG00000183378 chr11 7689438 7706421 - OVCH2 protein_coding 341277 GO:0005576, extracellular region, GO:0046872, GO:0004252, metal ion binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 1 0 0 0 0 ENSG00000183379 chr14 74405893 74426102 - SYNDIG1L protein_coding 646658 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, 0 0 0 0 0 0 0 0 0 ENSG00000183385 chrY 9691100 9693957 + TTTY8 lincRNA 84673 0 0 0 0 0 0 0 0 0 ENSG00000183386 chr1 37996770 38005606 - FHL3 protein_coding The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 2275 GO:0030018, GO:0005925, GO:0005634, GO:0001725, Z disc, focal adhesion, nucleus, stress fiber, GO:0046872, GO:0005515, GO:0003779, GO:0003712, metal ion binding, protein binding, actin binding, transcription coregulator activity, GO:1903506, GO:0030036, GO:0007517, regulation of nucleic acid-templated transcription, actin cytoskeleton organization, muscle organ development, 299 553 776 105 408 202 128 367 289 ENSG00000183389 chr11 5999445 6006946 - OR56A4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 120793 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183395 chr12 102196459 102197845 - PMCH protein_coding This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 2015]. 5367 GO:0045202, GO:0005634, GO:0005576, GO:0005576, synapse, nucleus, extracellular region, extracellular region, GO:0031777, GO:0030354, type 1 melanin-concentrating hormone receptor binding, melanin-concentrating hormone activity, GO:0030154, GO:0007631, GO:0007610, GO:0007283, GO:0007275, GO:0007268, GO:0007218, GO:0007186, cell differentiation, feeding behavior, behavior, spermatogenesis, multicellular organism development, chemical synaptic transmission, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 4 0 3 3 3 0 2 3 2 ENSG00000183396 chr3 48620759 48621855 - TMEM89 protein_coding 440955 GO:0016021, GO:0005634, integral component of membrane, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000183397 chr19 3539154 3544030 + C19orf71 protein_coding 100128569 72 85 80 82 121 61 119 76 72 ENSG00000183401 chr19 11344684 11354944 + CCDC159 protein_coding 126075 258 443 693 286 500 457 273 386 527 ENSG00000183421 chr21 41739369 41767106 - RIPK4 protein_coding The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]. 54101 GO:0016020, GO:0005737, membrane, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, GO:0051092, GO:0006468, GO:0002009, positive regulation of NF-kappaB transcription factor activity, protein phosphorylation, morphogenesis of an epithelium, 19 1 27 19 2 10 11 0 39 ENSG00000183423 chr4 109848202 109872315 + LRIT3 protein_coding This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]. 345193 GO:0043204, GO:0030425, GO:0016021, GO:0005789, perikaryon, dendrite, integral component of membrane, endoplasmic reticulum membrane, GO:0050896, GO:0040036, GO:0007601, response to stimulus, regulation of fibroblast growth factor receptor signaling pathway, visual perception, 0 0 0 1 0 0 0 0 0 ENSG00000183426 chr16 14922802 14952060 + NPIPA1 protein_coding 9284 GO:0031965, GO:0005654, GO:0005654, GO:0005643, nuclear membrane, nucleoplasm, nucleoplasm, nuclear pore, GO:0051028, GO:0015031, mRNA transport, protein transport, 1 0 0 0 0 0 0 0 2 ENSG00000183431 chr1 37956975 37990921 - SF3A3 protein_coding This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 10946 GO:0071013, GO:0071005, GO:0016607, GO:0005686, GO:0005681, GO:0005681, GO:0005654, GO:0005654, GO:0005634, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, nuclear speck, U2 snRNP, spliceosomal complex, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003723, GO:0003723, zinc ion binding, protein binding, RNA binding, RNA binding, GO:1903241, GO:0006397, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000389, GO:0000375, U2-type prespliceosome assembly, mRNA processing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA 3'-splice site recognition, RNA splicing, via transesterification reactions, 197 396 405 340 591 720 355 353 448 ENSG00000183432 chr4 150720981 150721478 + ZBTB8OSP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183434 chrX 133216669 133218348 - TFDP3 protein_coding This gene encodes a member of the DP family of transcription factors. These factors heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. This protein functions as a negative regulator and inhibits the DNA binding and transcriptional activities of E2F factors.[provided by RefSeq, May 2010]. 51270 GO:0005737, GO:0005667, GO:0005634, GO:0000785, cytoplasm, transcription regulator complex, nucleus, chromatin, GO:0140416, GO:0033613, GO:0008134, GO:0003700, GO:0003677, GO:0000981, GO:0000977, transcription regulator inhibitor activity, activating transcription factor binding, transcription factor binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000134, GO:0043433, GO:0006974, GO:0006357, GO:0000082, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of DNA-binding transcription factor activity, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, G1/S transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000183439 chr4 164954446 164977668 - TRIM61 protein_coding 391712 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 4 3 0 0 0 0 0 ENSG00000183444 chr7 97966090 97967074 - OR7E38P unprocessed_pseudogene 3 1 1 0 1 1 0 0 0 ENSG00000183454 chr16 9753404 10182754 - GRIN2A protein_coding This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 2903 GO:0099061, GO:0098839, GO:0097060, GO:0043197, GO:0042734, GO:0030659, GO:0017146, GO:0017146, GO:0017146, GO:0014069, GO:0009986, GO:0008021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005783, integral component of postsynaptic density membrane, postsynaptic density membrane, synaptic membrane, dendritic spine, presynaptic membrane, cytoplasmic vesicle membrane, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, postsynaptic density, cell surface, synaptic vesicle, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, GO:0038023, GO:0022849, GO:0022849, GO:0015276, GO:0008270, GO:0005515, GO:0004972, GO:0004972, GO:0004972, GO:0001540, signaling receptor activity, glutamate-gated calcium ion channel activity, glutamate-gated calcium ion channel activity, ligand-gated ion channel activity, zinc ion binding, protein binding, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, amyloid-beta binding, GO:2000310, GO:1904646, GO:1903539, GO:0098976, GO:0097553, GO:0097553, GO:0097202, GO:0060291, GO:0060079, GO:0048167, GO:0045471, GO:0043065, GO:0042493, GO:0042428, GO:0042417, GO:0042177, GO:0035235, GO:0033058, GO:0030431, GO:0022008, GO:0019722, GO:0019233, GO:0009611, GO:0008542, GO:0007613, GO:0007611, GO:0007420, GO:0007268, GO:0007215, GO:0001975, GO:0001964, regulation of NMDA receptor activity, cellular response to amyloid-beta, protein localization to postsynaptic membrane, excitatory chemical synaptic transmission, calcium ion transmembrane import into cytosol, calcium ion transmembrane import into cytosol, activation of cysteine-type endopeptidase activity, long-term synaptic potentiation, excitatory postsynaptic potential, regulation of synaptic plasticity, response to ethanol, positive regulation of apoptotic process, response to drug, serotonin metabolic process, dopamine metabolic process, negative regulation of protein catabolic process, ionotropic glutamate receptor signaling pathway, directional locomotion, sleep, neurogenesis, calcium-mediated signaling, sensory perception of pain, response to wounding, visual learning, memory, learning or memory, brain development, chemical synaptic transmission, glutamate receptor signaling pathway, response to amphetamine, startle response, 0 0 0 0 0 0 0 0 0 ENSG00000183458 chr16 14911551 14935708 + AC138932.1 transcribed_unprocessed_pseudogene 2 5 6 0 1 10 10 2 3 ENSG00000183463 chr13 27977714 27988654 - URAD protein_coding 646625 GO:0005777, GO:0005575, peroxisome, cellular_component, GO:0016831, GO:0016831, carboxy-lyase activity, carboxy-lyase activity, GO:0019628, GO:0019428, GO:0008150, GO:0006144, urate catabolic process, allantoin biosynthetic process, biological_process, purine nucleobase metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000183470 chr7 132648794 132728769 + FLJ40288 lincRNA 286023 0 0 0 0 3 0 0 0 0 ENSG00000183474 chr5 69560208 69594723 + GTF2H2C protein_coding 728340 GO:0016607, GO:0005675, GO:0000439, nuclear speck, transcription factor TFIIH holo complex, transcription factor TFIIH core complex, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0006357, GO:0006351, GO:0006289, regulation of transcription by RNA polymerase II, transcription, DNA-templated, nucleotide-excision repair, 5 28 39 2 57 44 2 26 26 ENSG00000183475 chr15 100602534 100651705 + ASB7 protein_coding The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 140460 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 153 188 144 109 231 124 141 161 119 ENSG00000183476 chr15 78077808 78104909 + SH2D7 protein_coding 646892 0 0 1 0 0 0 5 0 0 ENSG00000183479 chrX 153444720 153470587 - TREX2 protein_coding This gene encodes a nuclear protein with 3' to 5' exonuclease activity. The encoded protein participates in double-stranded DNA break repair, and may interact with DNA polymerase delta. [provided by RefSeq, Nov 2012]. 11219 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0042803, GO:0008853, GO:0008296, GO:0008296, GO:0005515, GO:0003676, GO:0000287, protein homodimerization activity, exodeoxyribonuclease III activity, 3'-5'-exodeoxyribonuclease activity, 3'-5'-exodeoxyribonuclease activity, protein binding, nucleic acid binding, magnesium ion binding, GO:0006281, GO:0006259, GO:0000738, DNA repair, DNA metabolic process, DNA catabolic process, exonucleolytic, 4 5 2 12 10 0 6 2 0 ENSG00000183484 chr14 105049389 105065445 - GPR132 protein_coding This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein was reported to be a receptor for lysophosphatidylcholine action, but PubMedID: 15653487 retracts this finding and instead suggests this protein to be an effector of lysophosphatidylcholine action. This protein may have proton-sensing activity and may be a receptor for oxidized free fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 29933 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0010972, GO:0007186, GO:0000082, negative regulation of G2/M transition of mitotic cell cycle, G protein-coupled receptor signaling pathway, G1/S transition of mitotic cell cycle, 643 603 1182 798 509 1252 864 365 874 ENSG00000183486 chr21 41361943 41409390 + MX2 protein_coding The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq, Jul 2008]. 4600 GO:0098844, GO:0098793, GO:0044327, GO:0031966, GO:0031410, GO:0030424, GO:0016020, GO:0015630, GO:0014069, GO:0005886, GO:0005829, GO:0005737, GO:0005643, GO:0005634, postsynaptic endocytic zone membrane, presynapse, dendritic spine head, mitochondrial membrane, cytoplasmic vesicle, axon, membrane, microtubule cytoskeleton, postsynaptic density, plasma membrane, cytosol, cytoplasm, nuclear pore, nucleus, GO:0008017, GO:0005525, GO:0005515, GO:0003924, microtubule binding, GTP binding, protein binding, GTPase activity, GO:0098884, GO:0061025, GO:0060337, GO:0051726, GO:0051607, GO:0051028, GO:0050803, GO:0048285, GO:0046822, GO:0035455, GO:0031623, GO:0016185, GO:0009615, GO:0006952, GO:0003374, GO:0000266, postsynaptic neurotransmitter receptor internalization, membrane fusion, type I interferon signaling pathway, regulation of cell cycle, defense response to virus, mRNA transport, regulation of synapse structure or activity, organelle fission, regulation of nucleocytoplasmic transport, response to interferon-alpha, receptor internalization, synaptic vesicle budding from presynaptic endocytic zone membrane, response to virus, defense response, dynamin family protein polymerization involved in mitochondrial fission, mitochondrial fission, 8807 6432 8775 7421 6858 8445 8639 5000 6749 ENSG00000183495 chr12 131949920 132081102 + EP400 protein_coding 57634 GO:0035267, GO:0016607, GO:0005654, GO:0000812, NuA4 histone acetyltransferase complex, nuclear speck, nucleoplasm, Swr1 complex, GO:0005524, GO:0005515, GO:0004386, GO:0003677, ATP binding, protein binding, helicase activity, DNA binding, GO:0043968, GO:0043967, histone H2A acetylation, histone H4 acetylation, 447 518 592 365 372 464 453 293 378 ENSG00000183496 chr15 82041778 82046141 - MEX3B protein_coding This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 2012]. 84206 GO:0005829, GO:0005654, GO:0000932, cytosol, nucleoplasm, P-body, GO:0005509, GO:0003723, GO:0003723, calcium ion binding, RNA binding, RNA binding, GO:0046777, GO:0006468, protein autophosphorylation, protein phosphorylation, 0 3 6 3 0 0 7 0 0 ENSG00000183506 chr22 21473000 21517533 - PI4KAP2 transcribed_unitary_pseudogene 179 156 203 161 136 162 200 89 97 ENSG00000183508 chr1 117605934 117628372 + TENT5C protein_coding 54855 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:1990817, GO:1990817, GO:0005515, GO:0003723, RNA adenylyltransferase activity, RNA adenylyltransferase activity, protein binding, RNA binding, GO:0048255, GO:0048255, GO:0016032, mRNA stabilization, mRNA stabilization, viral process, 312 262 563 242 228 458 275 161 339 ENSG00000183513 chr2 98599310 98608515 - COA5 protein_coding This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]. 493753 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0033617, mitochondrial cytochrome c oxidase assembly, 87 113 125 60 98 113 80 92 110 ENSG00000183514 chr2 227870083 227870644 - TDGF1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183520 chr1 38009258 38024824 + UTP11 protein_coding 51118 GO:0032040, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005615, small-subunit processome, cytoplasm, nucleolus, nucleolus, nucleoplasm, extracellular space, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0043065, GO:0007399, GO:0006364, positive regulation of apoptotic process, nervous system development, rRNA processing, 31 34 55 52 54 62 17 33 37 ENSG00000183527 chr21 39174769 39183851 - PSMG1 protein_coding 8624 GO:0101031, GO:0005829, GO:0005794, GO:0005783, GO:0005783, GO:0005737, GO:0005654, GO:0005634, chaperone complex, cytosol, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, GO:0070628, GO:0060090, GO:0060090, GO:0005515, proteasome binding, molecular adaptor activity, molecular adaptor activity, protein binding, GO:0080129, GO:0051131, GO:0051131, GO:0021930, proteasome core complex assembly, chaperone-mediated protein complex assembly, chaperone-mediated protein complex assembly, cerebellar granule cell precursor proliferation, 11 8 12 28 11 11 35 21 12 ENSG00000183530 chr22 31676256 31750140 - PRR14L protein_coding 253143 821 980 903 878 1281 1265 989 929 982 ENSG00000183535 chr21 45419716 45425070 - COL18A1-AS1 antisense 378832 0 0 0 0 0 0 0 0 0 ENSG00000183542 chr12 10407382 10409757 - KLRC4 protein_coding Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]. 8302 GO:0016021, integral component of membrane, 1 0 0 1 1 5 3 5 3 ENSG00000183549 chr16 20409534 20441336 + ACSM5 protein_coding 54988 GO:0005759, mitochondrial matrix, GO:0047760, GO:0046872, GO:0015645, GO:0005525, GO:0005524, GO:0004321, GO:0003996, butyrate-CoA ligase activity, metal ion binding, fatty acid ligase activity, GTP binding, ATP binding, fatty-acyl-CoA synthase activity, acyl-CoA ligase activity, GO:0006637, GO:0006633, acyl-CoA metabolic process, fatty acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000183559 chr10 122697709 122699822 - C10orf120 protein_coding 399814 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000183560 chr11 94305592 94307721 + IZUMO1R protein_coding 390243 GO:0031362, GO:0005886, GO:0005576, anchored component of external side of plasma membrane, plasma membrane, extracellular region, GO:0038023, GO:0038023, GO:0005542, GO:0005515, GO:0005102, signaling receptor activity, signaling receptor activity, folic acid binding, protein binding, signaling receptor binding, GO:0035036, GO:0035036, GO:0007342, GO:0007342, GO:0007338, GO:0007155, GO:0007155, sperm-egg recognition, sperm-egg recognition, fusion of sperm to egg plasma membrane involved in single fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, single fertilization, cell adhesion, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000183562 chr11 2989863 2991344 + AC131971.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000183566 chr20 33193585 33210462 + BPIFA4P transcribed_unprocessed_pseudogene 317716 0 0 0 0 0 0 0 0 0 ENSG00000183569 chr22 42553617 42574382 + SERHL2 protein_coding 253190 GO:0048471, GO:0031410, GO:0005777, GO:0005575, perinuclear region of cytoplasm, cytoplasmic vesicle, peroxisome, cellular_component, GO:0016787, GO:0003674, hydrolase activity, molecular_function, GO:0008150, biological_process, 11 9 20 29 12 24 31 7 8 ENSG00000183570 chr21 45643694 45942454 + PCBP3 protein_coding This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]. 54039 GO:0070062, GO:0005829, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, cytosol, cytoplasm, nucleus, nucleus, GO:1990829, GO:0003729, GO:0003723, GO:0003723, GO:0003690, GO:0001227, C-rich single-stranded DNA binding, mRNA binding, RNA binding, RNA binding, double-stranded DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, GO:0051252, GO:0016071, GO:0010468, GO:0000122, regulation of RNA metabolic process, mRNA metabolic process, regulation of gene expression, negative regulation of transcription by RNA polymerase II, 39 44 27 27 64 33 37 71 19 ENSG00000183571 chr15 98968230 99007795 - PGPEP1L protein_coding 145814 GO:0008234, cysteine-type peptidase activity, GO:0006508, proteolysis, 8 1 5 5 8 2 6 4 2 ENSG00000183576 chr14 99397746 99480889 - SETD3 protein_coding 84193 GO:0005737, GO:0005654, GO:0000785, cytoplasm, nucleoplasm, chromatin, GO:0046975, GO:0046975, GO:0042800, GO:0018064, GO:0016279, GO:0005515, GO:0003779, GO:0003713, GO:0003713, GO:0001102, histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H3-K4 specific), protein-histidine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein binding, actin binding, transcription coactivator activity, transcription coactivator activity, RNA polymerase II activating transcription factor binding, GO:0070472, GO:0051568, GO:0051149, GO:0045944, GO:0045893, GO:0030047, GO:0018027, GO:0018027, GO:0018026, GO:0018026, GO:0018023, GO:0018023, GO:0018021, GO:0010452, regulation of uterine smooth muscle contraction, histone H3-K4 methylation, positive regulation of muscle cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, actin modification, peptidyl-lysine dimethylation, peptidyl-lysine dimethylation, peptidyl-lysine monomethylation, peptidyl-lysine monomethylation, peptidyl-lysine trimethylation, peptidyl-lysine trimethylation, peptidyl-histidine methylation, histone H3-K36 methylation, 318 284 346 211 236 282 228 230 178 ENSG00000183578 chr15 51056598 51105276 - TNFAIP8L3 protein_coding 388121 GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, plasma membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0035091, GO:0008526, GO:0005515, phosphatidylinositol binding, phosphatidylinositol transfer activity, protein binding, GO:0120009, GO:0070374, GO:0051897, GO:0048017, GO:0043552, GO:0042981, GO:0019216, GO:0015914, GO:0006644, intermembrane lipid transfer, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, inositol lipid-mediated signaling, positive regulation of phosphatidylinositol 3-kinase activity, regulation of apoptotic process, regulation of lipid metabolic process, phospholipid transport, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000183579 chr22 28883592 29057487 + ZNRF3 protein_coding 84133 GO:0005887, GO:0005887, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0061630, GO:0061630, GO:0046872, GO:0005515, GO:0005109, GO:0005109, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, frizzled binding, frizzled binding, ubiquitin-protein transferase activity, GO:2000095, GO:2000051, GO:0090090, GO:0090090, GO:0072089, GO:0060173, GO:0038018, GO:0038018, GO:0038018, GO:0016567, GO:0016567, GO:0016055, GO:0006511, GO:0006511, regulation of Wnt signaling pathway, planar cell polarity pathway, negative regulation of non-canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, stem cell proliferation, limb development, Wnt receptor catabolic process, Wnt receptor catabolic process, Wnt receptor catabolic process, protein ubiquitination, protein ubiquitination, Wnt signaling pathway, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 1 4 8 1 0 0 1 0 0 ENSG00000183580 chr5 15500196 15939795 + FBXL7 protein_coding This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. 23194 GO:0019005, GO:0019005, GO:0019005, GO:0005829, GO:0005813, GO:0000151, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, centrosome, ubiquitin ligase complex, GO:0005515, protein binding, GO:0051301, GO:0043687, GO:0031146, GO:0031146, GO:0031146, GO:0031146, GO:0016567, GO:0010972, GO:0010265, GO:0006511, GO:0000278, GO:0000209, GO:0000209, GO:0000209, GO:0000086, cell division, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, negative regulation of G2/M transition of mitotic cell cycle, SCF complex assembly, ubiquitin-dependent protein catabolic process, mitotic cell cycle, protein polyubiquitination, protein polyubiquitination, protein polyubiquitination, G2/M transition of mitotic cell cycle, 0 0 1 0 0 0 0 0 0 ENSG00000183586 chr1 152399577 152399769 + HMGN3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183597 chr22 20017014 20065926 + TANGO2 protein_coding This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]. 128989 GO:0005794, GO:0005794, Golgi apparatus, Golgi apparatus, GO:0009306, GO:0007030, protein secretion, Golgi organization, 726 668 814 426 629 493 507 531 408 ENSG00000183598 chr1 149813271 149813681 - HIST2H3D protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. [provided by RefSeq, Aug 2015]. 653604 GO:0070062, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, GO:0000786, extracellular exosome, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, nucleosome, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0007596, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, blood coagulation, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 32 20 14 34 67 39 54 70 43 ENSG00000183604 chr16 30267553 30335374 - SMG1P5 transcribed_unprocessed_pseudogene 595101 119 156 217 154 219 247 93 172 152 ENSG00000183605 chr10 119140767 119165667 - SFXN4 protein_coding This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]. 119559 GO:0031305, GO:0005739, integral component of mitochondrial inner membrane, mitochondrion, GO:0022857, GO:0015075, transmembrane transporter activity, ion transmembrane transporter activity, GO:1990542, GO:0034220, GO:0006865, mitochondrial transmembrane transport, ion transmembrane transport, amino acid transport, 13 5 10 22 7 27 16 7 6 ENSG00000183607 chr2 68945232 68952970 - GKN2 protein_coding The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa. [provided by RefSeq, Dec 2015]. 200504 GO:0045178, GO:0005615, basal part of cell, extracellular space, GO:0005515, protein binding, GO:0042127, GO:0009617, regulation of cell population proliferation, response to bacterium, 0 0 2 1 1 4 0 0 0 ENSG00000183615 chr1 32247233 32248856 + FAM167B protein_coding 84734 1 1 2 0 2 1 1 1 0 ENSG00000183617 chr19 3762664 3768575 + MRPL54 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 116541 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 106 76 98 90 58 122 49 68 75 ENSG00000183621 chr10 30820207 31031937 - ZNF438 protein_coding 220929 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 303 353 388 323 470 425 348 462 420 ENSG00000183624 chr3 129278828 129306186 + HMCES protein_coding 56941 GO:0005657, replication fork, GO:0008233, GO:0005515, GO:0003906, GO:0003697, peptidase activity, protein binding, DNA-(apurinic or apyrimidinic site) endonuclease activity, single-stranded DNA binding, GO:0097681, GO:0045830, GO:0018142, GO:0006974, GO:0006508, double-strand break repair via alternative nonhomologous end joining, positive regulation of isotype switching, protein-DNA covalent cross-linking, cellular response to DNA damage stimulus, proteolysis, 387 393 646 436 317 481 417 223 370 ENSG00000183625 chr3 46163604 46266706 + CCR3 protein_coding The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]. 1232 GO:0009897, GO:0005887, GO:0005886, GO:0005737, external side of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0019957, GO:0019957, GO:0016493, GO:0005515, GO:0004950, C-C chemokine binding, C-C chemokine binding, C-C chemokine receptor activity, protein binding, chemokine receptor activity, GO:0070098, GO:0060326, GO:0045766, GO:0019722, GO:0016032, GO:0007204, GO:0007188, GO:0007186, GO:0007155, GO:0006968, GO:0006955, GO:0006954, GO:0001938, chemokine-mediated signaling pathway, cell chemotaxis, positive regulation of angiogenesis, calcium-mediated signaling, viral process, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell adhesion, cellular defense response, immune response, inflammatory response, positive regulation of endothelial cell proliferation, 1454 1404 1046 413 898 325 552 866 384 ENSG00000183628 chr22 18906028 18914238 + DGCR6 protein_coding DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]. 8214 GO:0031012, GO:0005634, extracellular matrix, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0009887, GO:0007155, animal organ morphogenesis, cell adhesion, 1 0 2 3 1 0 1 1 0 ENSG00000183629 chr15 28519611 28533014 - GOLGA8G protein_coding 283768 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0005515, protein binding, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 0 0 0 0 0 0 ENSG00000183631 chrX 126819764 126821786 + PRR32 protein_coding 100130613 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000183632 chr16 32673528 32676732 - TP53TG3 protein_coding 24150 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000183638 chr8 10606349 10712187 - RP1L1 protein_coding This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]. 94137 GO:0032391, GO:0005930, GO:0005930, GO:0005874, GO:0001750, photoreceptor connecting cilium, axoneme, axoneme, microtubule, photoreceptor outer segment, GO:0060041, GO:0045494, GO:0045494, GO:0042461, GO:0042461, GO:0035556, GO:0035082, GO:0007601, retina development in camera-type eye, photoreceptor cell maintenance, photoreceptor cell maintenance, photoreceptor cell development, photoreceptor cell development, intracellular signal transduction, axoneme assembly, visual perception, 0 8 6 0 11 3 2 1 0 ENSG00000183640 chr21 30812697 30813252 - KRTAP8-1 protein_coding 337879 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000183643 chr15 92471654 92501117 + C15orf32 lincRNA 145858 0 0 0 0 0 0 0 0 0 ENSG00000183644 chr11 111514785 111537031 + C11orf88 protein_coding 399949 GO:0005929, GO:0005737, cilium, cytoplasm, GO:0060271, GO:0035082, GO:0030317, GO:0007283, cilium assembly, axoneme assembly, flagellated sperm motility, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000183647 chr19 57599885 57612722 + ZNF530 protein_coding 348327 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 11 5 8 5 18 4 9 2 3 ENSG00000183648 chr14 92116122 92121917 - NDUFB1 protein_coding 4707 GO:0016607, GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, nuclear speck, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 242 139 205 126 177 214 131 184 126 ENSG00000183654 chr5 16067139 16180762 - MARCH11 protein_coding MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]. 441061 GO:0030659, GO:0016021, cytoplasmic vesicle membrane, integral component of membrane, GO:0016740, GO:0008270, transferase activity, zinc ion binding, GO:0016567, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000183655 chr15 85759323 85795030 - KLHL25 protein_coding 64410 GO:0031463, GO:0031463, GO:0005829, GO:0005737, GO:0005737, Cul3-RING ubiquitin ligase complex, Cul3-RING ubiquitin ligase complex, cytosol, cytoplasm, cytoplasm, GO:0043687, GO:0016567, GO:0016567, GO:0006511, GO:0006511, GO:0006446, post-translational protein modification, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, regulation of translational initiation, 37 22 45 25 12 25 32 6 12 ENSG00000183662 chr3 68004216 68545625 + FAM19A1 protein_coding This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]. 407738 GO:0005783, GO:0005615, GO:0005615, endoplasmic reticulum, extracellular space, extracellular space, GO:0048018, GO:0048018, GO:0005515, receptor ligand activity, receptor ligand activity, protein binding, GO:1902692, GO:1902692, GO:0014016, GO:0014016, GO:0010469, GO:0007165, regulation of neuroblast proliferation, regulation of neuroblast proliferation, neuroblast differentiation, neuroblast differentiation, regulation of signaling receptor activity, signal transduction, 6 1 1 2 3 5 1 0 4 ENSG00000183663 chr8 96068729 96069681 - AC007992.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183665 chr8 124450820 124462150 + TRMT12 protein_coding Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]. 55039 GO:0005737, cytoplasm, GO:0102522, GO:0008175, GO:0005515, tRNA 4-demethylwyosine alpha-amino-alpha-carboxypropyltransferase activity, tRNA methyltransferase activity, protein binding, GO:0030488, tRNA methylation, 32 98 72 44 81 61 21 85 50 ENSG00000183666 chr5 21341833 21589372 + GUSBP1 transcribed_unprocessed_pseudogene 728411 16 6 9 12 7 30 20 5 4 ENSG00000183668 chr19 43211791 43269530 - PSG9 protein_coding The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]. 5678 GO:0005576, extracellular region, GO:0007565, female pregnancy, 0 0 0 0 0 0 0 0 0 ENSG00000183671 chr2 206175316 206218047 - GPR1 protein_coding 2825 GO:0043231, GO:0043005, GO:0005887, GO:0005886, GO:0005654, intracellular membrane-bounded organelle, neuron projection, integral component of plasma membrane, plasma membrane, nucleoplasm, GO:0042923, GO:0042277, GO:0005515, GO:0004930, neuropeptide binding, peptide binding, protein binding, G protein-coupled receptor activity, GO:0007218, GO:0007186, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 1 0 0 0 0 0 0 ENSG00000183674 chr6 10429255 10434874 - LINC00518 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000183682 chr1 39491646 39525935 + BMP8A protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]. 353500 GO:0005615, extracellular space, GO:0070700, GO:0008083, GO:0005125, BMP receptor binding, growth factor activity, cytokine activity, GO:0097009, GO:0060395, GO:0051216, GO:0046676, GO:0030509, GO:0030154, GO:0010862, GO:0002024, GO:0001503, energy homeostasis, SMAD protein signal transduction, cartilage development, negative regulation of insulin secretion, BMP signaling pathway, cell differentiation, positive regulation of pathway-restricted SMAD protein phosphorylation, diet induced thermogenesis, ossification, 0 1 1 9 0 13 4 1 6 ENSG00000183684 chr17 81887844 81891586 - ALYREF protein_coding The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008]. 10189 GO:0071013, GO:0070062, GO:0035145, GO:0016607, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000781, GO:0000346, catalytic step 2 spliceosome, extracellular exosome, exon-exon junction complex, nuclear speck, membrane, cytosol, cytoplasm, nucleoplasm, nucleus, chromosome, telomeric region, transcription export complex, GO:0062153, GO:0005515, GO:0003723, C5-methylcytidine-containing RNA binding, protein binding, RNA binding, GO:0046784, GO:0032786, GO:0031297, GO:0031124, GO:0016032, GO:0006406, GO:0006406, GO:0006405, GO:0006405, GO:0001649, GO:0000398, GO:0000398, GO:0000018, viral mRNA export from host cell nucleus, positive regulation of DNA-templated transcription, elongation, replication fork processing, mRNA 3'-end processing, viral process, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, RNA export from nucleus, osteoblast differentiation, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of DNA recombination, 420 291 451 699 799 692 640 618 558 ENSG00000183688 chr17 439978 445939 - RFLNB protein_coding 359845 GO:0032432, GO:0005737, actin filament bundle, cytoplasm, GO:0031005, GO:0031005, filamin binding, filamin binding, GO:1900158, GO:0061572, GO:0061182, GO:0048705, GO:0001837, negative regulation of bone mineralization involved in bone maturation, actin filament bundle organization, negative regulation of chondrocyte development, skeletal system morphogenesis, epithelial to mesenchymal transition, 2712 2584 2511 297 1122 607 503 1062 558 ENSG00000183690 chrX 44147882 44343672 - EFHC2 protein_coding This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]. 80258 GO:0072686, GO:0036064, GO:0005930, GO:0005874, mitotic spindle, ciliary basal body, axoneme, microtubule, GO:0043014, GO:0005515, GO:0005509, alpha-tubulin binding, protein binding, calcium ion binding, GO:1990830, GO:0060285, GO:0010975, GO:0007052, GO:0000281, cellular response to leukemia inhibitory factor, cilium-dependent cell motility, regulation of neuron projection development, mitotic spindle organization, mitotic cytokinesis, 194 144 179 194 197 200 240 133 188 ENSG00000183691 chr17 56593699 56595590 + NOG protein_coding The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008]. 9241 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0042803, GO:0019955, GO:0005515, protein homodimerization activity, cytokine binding, protein binding, GO:2001234, GO:2000313, GO:1905006, GO:0090193, GO:0090190, GO:0090090, GO:0061626, GO:0061384, GO:0061312, GO:0061053, GO:0061037, GO:0060825, GO:0060676, GO:0060513, GO:0060425, GO:0060412, GO:0060394, GO:0060394, GO:0060325, GO:0060302, GO:0060272, GO:0060173, GO:0060044, GO:0055009, GO:0051216, GO:0050679, GO:0048712, GO:0048706, GO:0048570, GO:0048318, GO:0045944, GO:0045668, GO:0042733, GO:0042474, GO:0042060, GO:0035019, GO:0030514, GO:0030514, GO:0030514, GO:0030509, GO:0030336, GO:0021983, GO:0021533, GO:0021510, GO:0010628, GO:0009953, GO:0009953, GO:0008045, GO:0007399, GO:0003223, GO:0003203, GO:0003151, GO:0003149, GO:0001843, GO:0001839, GO:0001837, GO:0001707, GO:0001706, GO:0001701, GO:0001649, GO:0001649, GO:0001501, GO:0000122, negative regulation of apoptotic signaling pathway, regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation, negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation, positive regulation of glomerulus development, positive regulation of branching involved in ureteric bud morphogenesis, negative regulation of canonical Wnt signaling pathway, pharyngeal arch artery morphogenesis, heart trabecula morphogenesis, BMP signaling pathway involved in heart development, somite development, negative regulation of cartilage development, fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation, ureteric bud formation, prostatic bud formation, lung morphogenesis, ventricular septum morphogenesis, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of pathway-restricted SMAD protein phosphorylation, face morphogenesis, negative regulation of cytokine activity, embryonic skeletal joint morphogenesis, limb development, negative regulation of cardiac muscle cell proliferation, atrial cardiac muscle tissue morphogenesis, cartilage development, positive regulation of epithelial cell proliferation, negative regulation of astrocyte differentiation, embryonic skeletal system development, notochord morphogenesis, axial mesoderm development, positive regulation of transcription by RNA polymerase II, negative regulation of osteoblast differentiation, embryonic digit morphogenesis, middle ear morphogenesis, wound healing, somatic stem cell population maintenance, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, BMP signaling pathway, negative regulation of cell migration, pituitary gland development, cell differentiation in hindbrain, spinal cord development, positive regulation of gene expression, dorsal/ventral pattern formation, dorsal/ventral pattern formation, motor neuron axon guidance, nervous system development, ventricular compact myocardium morphogenesis, endocardial cushion morphogenesis, outflow tract morphogenesis, membranous septum morphogenesis, neural tube closure, neural plate morphogenesis, epithelial to mesenchymal transition, mesoderm formation, endoderm formation, in utero embryonic development, osteoblast differentiation, osteoblast differentiation, skeletal system development, negative regulation of transcription by RNA polymerase II, 14 1 25 1 7 2 3 0 3 ENSG00000183695 chr11 19054455 19060681 - MRGPRX2 protein_coding 117194 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:1990595, GO:0042923, GO:0004930, GO:0004930, mast cell secretagogue receptor activity, neuropeptide binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0045576, GO:0043303, GO:0032467, GO:0030431, GO:0019233, GO:0007186, mast cell activation, mast cell degranulation, positive regulation of cytokinesis, sleep, sensory perception of pain, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183696 chr7 48088628 48108733 + UPP1 protein_coding This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]. 7378 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0042802, GO:0004850, identical protein binding, uridine phosphorylase activity, GO:0046135, GO:0044206, GO:0043097, GO:0042149, GO:0009166, GO:0006218, GO:0006139, pyrimidine nucleoside catabolic process, UMP salvage, pyrimidine nucleoside salvage, cellular response to glucose starvation, nucleotide catabolic process, uridine catabolic process, nucleobase-containing compound metabolic process, 335 308 623 544 453 778 545 357 531 ENSG00000183704 chrY 11340579 11385687 - SLC9B1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183706 chr15 22094522 22095472 + OR4N4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 283694 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183709 chr19 39268514 39270092 + IFNL2 protein_coding This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]. 282616 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005125, GO:0005102, cytokine activity, signaling receptor binding, GO:0051607, GO:0051607, GO:0050778, GO:0045087, GO:0019221, GO:0007259, GO:0002385, defense response to virus, defense response to virus, positive regulation of immune response, innate immune response, cytokine-mediated signaling pathway, receptor signaling pathway via JAK-STAT, mucosal immune response, 0 2 0 0 0 0 0 3 0 ENSG00000183715 chr11 132414977 133532519 - OPCML protein_coding This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 4978 GO:0031225, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, extracellular region, GO:0005515, protein binding, GO:0008038, GO:0007155, neuron recognition, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000183718 chr5 181254417 181261139 - TRIM52 protein_coding 84851 GO:0016604, GO:0005829, GO:0005737, GO:0005737, GO:0005634, nuclear body, cytosol, cytoplasm, cytoplasm, nucleus, GO:0061630, GO:0061630, GO:0008270, ubiquitin protein ligase activity, ubiquitin protein ligase activity, zinc ion binding, GO:0051865, GO:0051607, GO:0051092, GO:0051091, GO:0043123, GO:0016567, GO:0016567, protein autoubiquitination, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, protein ubiquitination, protein ubiquitination, 345 299 269 368 388 459 367 314 315 ENSG00000183722 chr13 39209116 39603528 - LHFPL6 protein_coding This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]. 10186 GO:0016021, GO:0016020, integral component of membrane, membrane, 0 0 1 0 0 0 0 0 0 ENSG00000183723 chr16 66614750 66696707 - CMTM4 protein_coding This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 146223 GO:0016021, integral component of membrane, GO:0005515, protein binding, 44 30 30 32 58 51 29 48 41 ENSG00000183726 chr1 25337917 25362361 + TMEM50A protein_coding This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008]. 23585 GO:0097386, GO:0043025, GO:0016021, GO:0005783, glial cell projection, neuronal cell body, integral component of membrane, endoplasmic reticulum, GO:0005515, protein binding, GO:0032511, late endosome to vacuole transport via multivesicular body sorting pathway, 1719 1698 2052 531 1414 1030 785 1340 957 ENSG00000183729 chr8 52938431 52941117 + NPBWR1 protein_coding 0 0 0 0 0 0 0 1 0 ENSG00000183733 chr2 70777310 70790643 - FIGLA protein_coding This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]. 344018 GO:0005667, GO:0000785, GO:0000785, transcription regulator complex, chromatin, chromatin, GO:1990837, GO:0046983, GO:0043565, GO:0008134, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein dimerization activity, sequence-specific DNA binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048599, GO:0045944, GO:0032502, GO:0007275, GO:0006357, oocyte development, positive regulation of transcription by RNA polymerase II, developmental process, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000183734 chr11 2268495 2270952 - ASCL2 protein_coding This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]. 430 GO:0090575, GO:0005737, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, cytoplasm, nucleus, chromatin, GO:1990837, GO:0070888, GO:0046983, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, protein dimerization activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060712, GO:0050767, GO:0045944, GO:0035019, GO:0030182, GO:0010626, GO:0007423, GO:0006357, GO:0001890, GO:0001666, GO:0000122, spongiotrophoblast layer development, regulation of neurogenesis, positive regulation of transcription by RNA polymerase II, somatic stem cell population maintenance, neuron differentiation, negative regulation of Schwann cell proliferation, sensory organ development, regulation of transcription by RNA polymerase II, placenta development, response to hypoxia, negative regulation of transcription by RNA polymerase II, 28 21 32 4 13 11 6 11 26 ENSG00000183735 chr12 64451880 64502108 + TBK1 protein_coding The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]. 29110 GO:0043231, GO:0010008, GO:0005829, GO:0005737, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, endosome membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0106311, GO:0106310, GO:0051219, GO:0042802, GO:0019903, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0003676, protein threonine kinase activity, protein serine kinase activity, phosphoprotein binding, identical protein binding, protein phosphatase binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, nucleic acid binding, GO:1904417, GO:1901214, GO:0071345, GO:0060340, GO:0051607, GO:0050830, GO:0045944, GO:0045087, GO:0045087, GO:0044565, GO:0043123, GO:0035666, GO:0033138, GO:0032728, GO:0032727, GO:0032606, GO:0032481, GO:0032480, GO:0032479, GO:0032479, GO:0018107, GO:0018105, GO:0018105, GO:0016239, GO:0016032, GO:0009615, GO:0007249, GO:0006954, GO:0006468, GO:0002218, positive regulation of xenophagy, regulation of neuron death, cellular response to cytokine stimulus, positive regulation of type I interferon-mediated signaling pathway, defense response to virus, defense response to Gram-positive bacterium, positive regulation of transcription by RNA polymerase II, innate immune response, innate immune response, dendritic cell proliferation, positive regulation of I-kappaB kinase/NF-kappaB signaling, TRIF-dependent toll-like receptor signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, type I interferon production, positive regulation of type I interferon production, negative regulation of type I interferon production, regulation of type I interferon production, regulation of type I interferon production, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, positive regulation of macroautophagy, viral process, response to virus, I-kappaB kinase/NF-kappaB signaling, inflammatory response, protein phosphorylation, activation of innate immune response, 668 613 936 427 477 445 409 392 365 ENSG00000183741 chr22 38861450 38872314 - CBX6 protein_coding 23466 GO:0031519, GO:0005654, GO:0005634, GO:0000792, PcG protein complex, nucleoplasm, nucleus, heterochromatin, GO:0005515, GO:0003727, protein binding, single-stranded RNA binding, GO:0006325, GO:0000122, chromatin organization, negative regulation of transcription by RNA polymerase II, 537 454 545 514 608 726 704 482 596 ENSG00000183742 chr7 20134655 20217404 - MACC1 protein_coding MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]. 346389 GO:0005739, GO:0005737, GO:0005634, mitochondrion, cytoplasm, nucleus, GO:0008083, growth factor activity, GO:0051781, GO:0045944, GO:0007165, positive regulation of cell division, positive regulation of transcription by RNA polymerase II, signal transduction, 0 0 2 2 1 4 7 0 2 ENSG00000183747 chr16 20451461 20487667 + ACSM2A protein_coding This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]. 123876 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0047760, GO:0046872, GO:0018858, GO:0015645, GO:0005524, GO:0004321, GO:0003996, butyrate-CoA ligase activity, metal ion binding, benzoate-CoA ligase activity, fatty acid ligase activity, ATP binding, fatty-acyl-CoA synthase activity, acyl-CoA ligase activity, GO:0070328, GO:0042593, GO:0036112, GO:0006637, GO:0006633, triglyceride homeostasis, glucose homeostasis, medium-chain fatty-acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000183751 chr16 1972037 1982933 + TBL3 protein_coding The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]. 10607 GO:0032040, GO:0030686, GO:0005730, GO:0005730, GO:0005654, GO:0005654, small-subunit processome, 90S preribosome, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0034511, GO:0005515, GO:0003723, U3 snoRNA binding, protein binding, RNA binding, GO:0006364, GO:0000480, GO:0000472, rRNA processing, endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 86 89 95 115 106 93 84 96 101 ENSG00000183753 chrY 22973819 23005465 + BPY2 protein_coding This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008]. 9083 GO:0005634, nucleus, GO:0032399, GO:0005515, HECT domain binding, protein binding, GO:0007338, GO:0007283, single fertilization, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000183760 chr19 39083913 39111493 + ACP7 protein_coding Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]. 390928 GO:0005576, extracellular region, GO:0046872, GO:0003993, metal ion binding, acid phosphatase activity, GO:0016311, dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000183762 chr22 29073078 29168333 + KREMEN1 protein_coding This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]. 83999 GO:0043025, GO:0016021, GO:0016020, GO:0005886, neuronal cell body, integral component of membrane, membrane, plasma membrane, GO:0005515, protein binding, GO:0090090, GO:0060828, GO:0060173, GO:0048681, GO:0030279, GO:0016055, GO:0007154, GO:0006915, negative regulation of canonical Wnt signaling pathway, regulation of canonical Wnt signaling pathway, limb development, negative regulation of axon regeneration, negative regulation of ossification, Wnt signaling pathway, cell communication, apoptotic process, 584 293 1327 173 199 424 289 145 379 ENSG00000183763 chr3 49828599 49856574 - TRAIP protein_coding This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008]. 10293 GO:0090734, GO:0048471, GO:0005730, GO:0005654, site of DNA damage, perinuclear region of cytoplasm, nucleolus, nucleoplasm, GO:0061630, GO:0046872, GO:0042802, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, identical protein binding, protein binding, ubiquitin-protein transferase activity, GO:0106300, GO:0032688, GO:0032088, GO:0031297, GO:0031297, GO:0016567, GO:0016567, GO:0010804, GO:0007165, GO:0006974, GO:0006915, protein-DNA covalent cross-linking repair, negative regulation of interferon-beta production, negative regulation of NF-kappaB transcription factor activity, replication fork processing, replication fork processing, protein ubiquitination, protein ubiquitination, negative regulation of tumor necrosis factor-mediated signaling pathway, signal transduction, cellular response to DNA damage stimulus, apoptotic process, 3 1 7 7 2 3 0 3 5 ENSG00000183765 chr22 28687743 28742422 - CHEK2 protein_coding In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 11200 GO:0016605, GO:0005794, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000781, PML body, Golgi apparatus, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0106311, GO:0106310, GO:0046872, GO:0042803, GO:0042802, GO:0031625, GO:0019901, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, metal ion binding, protein homodimerization activity, identical protein binding, ubiquitin protein ligase binding, protein kinase binding, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000210, GO:2000002, GO:1903926, GO:1903416, GO:1901796, GO:0090399, GO:0090307, GO:0072428, GO:0071157, GO:0051301, GO:0050821, GO:0046777, GO:0045893, GO:0044773, GO:0044257, GO:0042770, GO:0042770, GO:0042176, GO:0035690, GO:0018105, GO:0008630, GO:0008630, GO:0006977, GO:0006975, GO:0006974, GO:0006974, GO:0006974, GO:0006468, GO:0006355, GO:0006302, GO:0001934, GO:0000086, GO:0000077, positive regulation of anoikis, negative regulation of DNA damage checkpoint, cellular response to bisphenol A, response to glycoside, regulation of signal transduction by p53 class mediator, replicative senescence, mitotic spindle assembly, signal transduction involved in intra-S DNA damage checkpoint, negative regulation of cell cycle arrest, cell division, protein stabilization, protein autophosphorylation, positive regulation of transcription, DNA-templated, mitotic DNA damage checkpoint, cellular protein catabolic process, signal transduction in response to DNA damage, signal transduction in response to DNA damage, regulation of protein catabolic process, cellular response to drug, peptidyl-serine phosphorylation, intrinsic apoptotic signaling pathway in response to DNA damage, intrinsic apoptotic signaling pathway in response to DNA damage, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, DNA damage induced protein phosphorylation, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, protein phosphorylation, regulation of transcription, DNA-templated, double-strand break repair, positive regulation of protein phosphorylation, G2/M transition of mitotic cell cycle, DNA damage checkpoint, 10 3 5 20 8 18 5 5 22 ENSG00000183770 chr3 138944224 138947140 - FOXL2 protein_coding This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]. 668 GO:0045171, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, intercellular bridge, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0043028, GO:0031624, GO:0030331, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, cysteine-type endopeptidase regulator activity involved in apoptotic process, ubiquitin conjugating enzyme binding, estrogen receptor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060065, GO:0060014, GO:0048048, GO:0046881, GO:0045944, GO:0045893, GO:0045892, GO:0043280, GO:0043065, GO:0043065, GO:0033686, GO:0030154, GO:0030154, GO:0019101, GO:0009653, GO:0007338, GO:0006357, GO:0006309, GO:0002074, GO:0001555, GO:0001541, GO:0001541, GO:0000122, uterus development, granulosa cell differentiation, embryonic eye morphogenesis, positive regulation of follicle-stimulating hormone secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of luteinizing hormone secretion, cell differentiation, cell differentiation, female somatic sex determination, anatomical structure morphogenesis, single fertilization, regulation of transcription by RNA polymerase II, apoptotic DNA fragmentation, extraocular skeletal muscle development, oocyte growth, ovarian follicle development, ovarian follicle development, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000183773 chr22 20965108 20981360 + AIFM3 protein_coding 150209 GO:0005829, GO:0005783, GO:0005743, GO:0005739, GO:0005634, cytosol, endoplasmic reticulum, mitochondrial inner membrane, mitochondrion, nucleus, GO:0051537, GO:0050660, GO:0046872, GO:0016491, 2 iron, 2 sulfur cluster binding, flavin adenine dinucleotide binding, metal ion binding, oxidoreductase activity, GO:0097194, GO:0055114, execution phase of apoptosis, oxidation-reduction process, 3 1 6 10 7 9 3 4 0 ENSG00000183775 chr5 144170832 144485686 + KCTD16 protein_coding 57528 GO:0045211, GO:0043235, GO:0042995, GO:0042734, postsynaptic membrane, receptor complex, cell projection, presynaptic membrane, GO:0005515, protein binding, GO:0051260, GO:0008277, protein homooligomerization, regulation of G protein-coupled receptor signaling pathway, 0 0 0 2 0 0 0 0 0 ENSG00000183778 chr21 39556442 39673137 + B3GALT5 protein_coding This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]. 10317 GO:0016021, GO:0005794, GO:0005794, GO:0005783, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0008532, GO:0008499, GO:0008376, GO:0008375, GO:0005515, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, protein binding, GO:0030311, GO:0006486, GO:0006486, poly-N-acetyllactosamine biosynthetic process, protein glycosylation, protein glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000183779 chr8 37695751 37700021 + ZNF703 protein_coding 80139 GO:0032991, GO:0016363, GO:0005737, GO:0005737, GO:0005634, GO:0005634, protein-containing complex, nuclear matrix, cytoplasm, cytoplasm, nucleus, nucleus, GO:0070491, GO:0046872, GO:0005515, repressing transcription factor binding, metal ion binding, protein binding, GO:0071392, GO:0060828, GO:0060644, GO:0051726, GO:0045892, GO:0045892, GO:0034333, GO:0034111, GO:0033601, GO:0030335, GO:0017015, GO:0010718, GO:0008284, GO:0006355, cellular response to estradiol stimulus, regulation of canonical Wnt signaling pathway, mammary gland epithelial cell differentiation, regulation of cell cycle, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, adherens junction assembly, negative regulation of homotypic cell-cell adhesion, positive regulation of mammary gland epithelial cell proliferation, positive regulation of cell migration, regulation of transforming growth factor beta receptor signaling pathway, positive regulation of epithelial to mesenchymal transition, positive regulation of cell population proliferation, regulation of transcription, DNA-templated, 5 3 4 12 15 22 14 11 8 ENSG00000183780 chr1 233904933 234324516 + SLC35F3 protein_coding 148641 GO:0016021, integral component of membrane, GO:0015888, GO:0015888, thiamine transport, thiamine transport, 1 0 0 4 0 3 0 0 0 ENSG00000183783 chr4 44173909 44448807 - KCTD8 protein_coding 386617 GO:0045211, GO:0043235, GO:0042995, GO:0042734, postsynaptic membrane, receptor complex, cell projection, presynaptic membrane, GO:0005515, protein binding, GO:0051260, GO:0008277, protein homooligomerization, regulation of G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183784 chr9 212824 215893 - C9orf66 protein_coding 444 416 512 107 159 147 173 151 136 ENSG00000183785 chr22 18110331 18146554 + TUBA8 protein_coding This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]. 51807 GO:0015630, GO:0005874, GO:0005737, microtubule cytoskeleton, microtubule, cytoplasm, GO:0005525, GO:0005515, GO:0005200, GO:0003924, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, GO:0000278, GO:0000226, mitotic cell cycle, microtubule cytoskeleton organization, 2 0 0 0 0 2 0 0 1 ENSG00000183791 chr18 47028202 47030078 - ELOA3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000183793 chr16 15363624 15381047 - NPIPA5 protein_coding 100288332 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, 0 0 1 0 0 1 0 0 0 ENSG00000183795 chrY 24607560 24639207 + BPY2B protein_coding This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008]. 442867 GO:0005634, nucleus, GO:0032399, GO:0005515, HECT domain binding, protein binding, GO:0007338, GO:0007283, single fertilization, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000183798 chr20 41359966 41366827 - EMILIN3 protein_coding 90187 GO:0062023, GO:0062023, GO:0005737, collagen-containing extracellular matrix, collagen-containing extracellular matrix, cytoplasm, GO:0042802, GO:0030023, GO:0030023, GO:0005515, identical protein binding, extracellular matrix constituent conferring elasticity, extracellular matrix constituent conferring elasticity, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000183801 chr11 7485388 7511377 + OLFML1 protein_coding 283298 GO:0005576, extracellular region, 1 0 0 1 0 0 0 2 5 ENSG00000183807 chr6 116752197 116765723 - FAM162B protein_coding 221303 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000183808 chr8 93729356 93741017 - RBM12B protein_coding 389677 GO:1990904, GO:0005654, ribonucleoprotein complex, nucleoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0043484, regulation of RNA splicing, 251 220 332 192 195 258 222 162 238 ENSG00000183813 chr3 32951574 32956349 + CCR4 protein_coding The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]. 1233 GO:0043025, GO:0009897, GO:0005887, GO:0005886, GO:0005886, neuronal cell body, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0019957, GO:0016493, GO:0005515, GO:0004950, C-C chemokine binding, C-C chemokine receptor activity, protein binding, chemokine receptor activity, GO:0070098, GO:0060326, GO:0050927, GO:0048872, GO:0046677, GO:0019722, GO:0009617, GO:0009314, GO:0007204, GO:0007186, GO:0006955, GO:0006954, GO:0002507, GO:0001764, chemokine-mediated signaling pathway, cell chemotaxis, positive regulation of positive chemotaxis, homeostasis of number of cells, response to antibiotic, calcium-mediated signaling, response to bacterium, response to radiation, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, inflammatory response, tolerance induction, neuron migration, 140 80 210 159 23 59 211 18 88 ENSG00000183814 chr1 226231149 226309869 - LIN9 protein_coding This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 286826 GO:0017053, GO:0005654, GO:0005654, GO:0005654, transcription repressor complex, nucleoplasm, nucleoplasm, nucleoplasm, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0071897, GO:0051726, GO:0051726, GO:0007049, GO:0006357, GO:0006351, GO:0000003, DNA biosynthetic process, regulation of cell cycle, regulation of cell cycle, cell cycle, regulation of transcription by RNA polymerase II, transcription, DNA-templated, reproduction, 2 3 3 7 5 12 15 11 4 ENSG00000183822 chr22 36847372 36870441 - NCF4-AS1 antisense 107985578 163 13 28 19 21 5 18 10 7 ENSG00000183826 chr6 38168451 38640148 - BTBD9 protein_coding This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]. 114781 GO:1900242, GO:0060586, GO:0050951, GO:0050804, GO:0048512, GO:0042748, GO:0042428, GO:0008344, GO:0007616, regulation of synaptic vesicle endocytosis, multicellular organismal iron ion homeostasis, sensory perception of temperature stimulus, modulation of chemical synaptic transmission, circadian behavior, circadian sleep/wake cycle, non-REM sleep, serotonin metabolic process, adult locomotory behavior, long-term memory, 219 243 264 221 266 256 278 221 211 ENSG00000183828 chr14 105172938 105181323 - NUDT14 protein_coding The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. 256281 GO:0005829, cytosol, GO:0047631, GO:0046872, GO:0042802, GO:0008768, GO:0008768, GO:0005515, ADP-ribose diphosphatase activity, metal ion binding, identical protein binding, UDP-sugar diphosphatase activity, UDP-sugar diphosphatase activity, protein binding, GO:0019693, GO:0018279, GO:0006753, ribose phosphate metabolic process, protein N-linked glycosylation via asparagine, nucleoside phosphate metabolic process, 4 4 6 15 1 18 15 1 1 ENSG00000183831 chr1 173609561 173669862 - ANKRD45 protein_coding 339416 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000183833 chr3 119703022 119767102 + MAATS1 protein_coding 89876 GO:0031514, GO:0005930, GO:0005739, GO:0001536, motile cilium, axoneme, mitochondrion, radial spoke stalk, GO:0005515, protein binding, GO:0003341, cilium movement, 0 0 2 0 0 0 2 0 0 ENSG00000183837 chrX 153056409 153060467 + PNMA3 protein_coding The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 29944 GO:0005730, nucleolus, GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, GO:0043065, positive regulation of apoptotic process, 1 2 7 6 5 9 1 2 17 ENSG00000183840 chr2 132416574 132646559 + GPR39 protein_coding This gene is a member of the ghrelin receptor family and encodes a rhodopsin-type G-protein-coupled receptor (GPCR). The encoded protein is involved in zinc-dependent signaling in epithelial tissue in intestines, prostate and salivary glands. The protein may also be involved in the pathophysiology of depression. [provided by RefSeq, Jun 2016]. 2863 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0005515, GO:0004930, metal ion binding, protein binding, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 1 0 0 0 2 0 0 0 ENSG00000183844 chr21 41304212 41357431 + FAM3B protein_coding 54097 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0042593, GO:0030073, GO:0030073, GO:0007165, GO:0006915, glucose homeostasis, insulin secretion, insulin secretion, signal transduction, apoptotic process, 90 2 5 33 7 11 43 5 3 ENSG00000183850 chr19 23075210 23147219 + ZNF730 protein_coding 100129543 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000183853 chr1 157993273 158100262 + KIRREL1 protein_coding NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]. 55243 GO:0048471, GO:0045121, GO:0043198, GO:0031253, GO:0005911, GO:0005911, GO:0005887, GO:0005886, GO:0005886, perinuclear region of cytoplasm, membrane raft, dendritic shaft, cell projection membrane, cell-cell junction, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0050839, GO:0017022, GO:0005515, cell adhesion molecule binding, myosin binding, protein binding, GO:0098609, GO:0030838, GO:0007588, GO:0001933, cell-cell adhesion, positive regulation of actin filament polymerization, excretion, negative regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000183856 chr1 156525405 156572604 - IQGAP3 protein_coding 128239 GO:0016328, GO:0005911, GO:0005829, GO:0005737, lateral plasma membrane, cell-cell junction, cytosol, cytoplasm, GO:0070856, GO:0051015, GO:0031267, GO:0005516, GO:0005516, GO:0005515, GO:0005096, myosin VI light chain binding, actin filament binding, small GTPase binding, calmodulin binding, calmodulin binding, protein binding, GTPase activator activity, GO:0071310, GO:0070371, GO:0043547, GO:0033601, GO:0032956, GO:0010629, GO:0010628, GO:0008361, GO:0007265, GO:0000187, GO:0000082, cellular response to organic substance, ERK1 and ERK2 cascade, positive regulation of GTPase activity, positive regulation of mammary gland epithelial cell proliferation, regulation of actin cytoskeleton organization, negative regulation of gene expression, positive regulation of gene expression, regulation of cell size, Ras protein signal transduction, activation of MAPK activity, G1/S transition of mitotic cell cycle, 0 0 0 0 1 0 0 0 0 ENSG00000183862 chrX 151738451 151745304 + CNGA2 protein_coding The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation. [provided by RefSeq, Jan 2010]. 1260 GO:0060170, GO:0030660, GO:0016021, GO:0000139, ciliary membrane, Golgi-associated vesicle membrane, integral component of membrane, Golgi membrane, GO:0030553, GO:0030552, GO:0005516, GO:0005223, GO:0005222, cGMP binding, cAMP binding, calmodulin binding, intracellular cGMP-activated cation channel activity, intracellular cAMP-activated cation channel activity, GO:0098655, GO:0050896, GO:0007608, cation transmembrane transport, response to stimulus, sensory perception of smell, 0 0 0 0 0 0 0 0 0 ENSG00000183864 chr22 41433492 41447023 - TOB2 protein_coding TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004]. 10766 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0042809, GO:0005515, GO:0003714, vitamin D receptor binding, protein binding, transcription corepressor activity, GO:1903507, GO:0045778, GO:0045671, GO:0010468, GO:0008285, GO:0007292, negative regulation of nucleic acid-templated transcription, positive regulation of ossification, negative regulation of osteoclast differentiation, regulation of gene expression, negative regulation of cell population proliferation, female gamete generation, 583 643 665 346 469 411 443 354 313 ENSG00000183873 chr3 38548057 38649673 - SCN5A protein_coding The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 6331 GO:0048471, GO:0042383, GO:0030315, GO:0030018, GO:0016328, GO:0016021, GO:0014704, GO:0014704, GO:0009986, GO:0005901, GO:0005901, GO:0005886, GO:0005886, GO:0005886, GO:0005783, GO:0005730, GO:0005654, GO:0001518, GO:0001518, GO:0001518, perinuclear region of cytoplasm, sarcolemma, T-tubule, Z disc, lateral plasma membrane, integral component of membrane, intercalated disc, intercalated disc, cell surface, caveola, caveola, plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, nucleolus, nucleoplasm, voltage-gated sodium channel complex, voltage-gated sodium channel complex, voltage-gated sodium channel complex, GO:0097110, GO:0086063, GO:0086062, GO:0086061, GO:0086060, GO:0086006, GO:0086006, GO:0050998, GO:0044325, GO:0031625, GO:0030506, GO:0019904, GO:0019901, GO:0019899, GO:0017134, GO:0005516, GO:0005515, GO:0005248, GO:0005248, GO:0005248, GO:0005244, scaffold protein binding, voltage-gated sodium channel activity involved in SA node cell action potential, voltage-gated sodium channel activity involved in Purkinje myocyte action potential, voltage-gated sodium channel activity involved in bundle of His cell action potential, voltage-gated sodium channel activity involved in AV node cell action potential, voltage-gated sodium channel activity involved in cardiac muscle cell action potential, voltage-gated sodium channel activity involved in cardiac muscle cell action potential, nitric-oxide synthase binding, ion channel binding, ubiquitin protein ligase binding, ankyrin binding, protein domain specific binding, protein kinase binding, enzyme binding, fibroblast growth factor binding, calmodulin binding, protein binding, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:1902305, GO:0098912, GO:0086091, GO:0086067, GO:0086048, GO:0086047, GO:0086046, GO:0086045, GO:0086043, GO:0086016, GO:0086016, GO:0086015, GO:0086014, GO:0086012, GO:0086010, GO:0086010, GO:0086005, GO:0086004, GO:0086002, GO:0071277, GO:0061337, GO:0060373, GO:0060372, GO:0060371, GO:0060371, GO:0060307, GO:0060048, GO:0051899, GO:0050679, GO:0045760, GO:0042475, GO:0035725, GO:0035725, GO:0035725, GO:0021549, GO:0021537, GO:0019228, GO:0014894, GO:0010765, GO:0006814, GO:0003360, GO:0003231, GO:0002027, GO:0002027, regulation of sodium ion transmembrane transport, membrane depolarization during atrial cardiac muscle cell action potential, regulation of heart rate by cardiac conduction, AV node cell to bundle of His cell communication, membrane depolarization during bundle of His cell action potential, membrane depolarization during Purkinje myocyte cell action potential, membrane depolarization during SA node cell action potential, membrane depolarization during AV node cell action potential, bundle of His cell action potential, AV node cell action potential, AV node cell action potential, SA node cell action potential, atrial cardiac muscle cell action potential, membrane depolarization during cardiac muscle cell action potential, membrane depolarization during action potential, membrane depolarization during action potential, ventricular cardiac muscle cell action potential, regulation of cardiac muscle cell contraction, cardiac muscle cell action potential involved in contraction, cellular response to calcium ion, cardiac conduction, regulation of ventricular cardiac muscle cell membrane depolarization, regulation of atrial cardiac muscle cell membrane repolarization, regulation of atrial cardiac muscle cell membrane depolarization, regulation of atrial cardiac muscle cell membrane depolarization, regulation of ventricular cardiac muscle cell membrane repolarization, cardiac muscle contraction, membrane depolarization, positive regulation of epithelial cell proliferation, positive regulation of action potential, odontogenesis of dentin-containing tooth, sodium ion transmembrane transport, sodium ion transmembrane transport, sodium ion transmembrane transport, cerebellum development, telencephalon development, neuronal action potential, response to denervation involved in regulation of muscle adaptation, positive regulation of sodium ion transport, sodium ion transport, brainstem development, cardiac ventricle development, regulation of heart rate, regulation of heart rate, 0 0 3 1 0 0 0 0 0 ENSG00000183876 chr5 150296343 150339307 - ARSI protein_coding This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]. 340075 GO:0005788, GO:0005576, endoplasmic reticulum lumen, extracellular region, GO:0046872, GO:0005515, GO:0004065, metal ion binding, protein binding, arylsulfatase activity, 0 0 0 0 0 0 0 0 0 ENSG00000183878 chrY 13248379 13480673 - UTY protein_coding This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]. 7404 GO:0044666, GO:0005654, GO:0000785, MLL3/4 complex, nucleoplasm, chromatin, GO:0071558, GO:0051213, GO:0046872, GO:0031490, GO:0000978, histone demethylase activity (H3-K27 specific), dioxygenase activity, metal ion binding, chromatin DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071557, GO:0055114, GO:0010468, histone H3-K27 demethylation, oxidation-reduction process, regulation of gene expression, 771 858 790 611 904 897 748 788 790 ENSG00000183888 chr1 16004236 16008807 + SRARP protein_coding 149563 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0030331, GO:0030331, GO:0005515, estrogen receptor binding, estrogen receptor binding, protein binding, GO:0033148, GO:0033148, positive regulation of intracellular estrogen receptor signaling pathway, positive regulation of intracellular estrogen receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183889 chr16 16317444 16350590 + PKD1P1 protein_coding 0 0 4 0 1 0 2 0 0 ENSG00000183891 chr2 19896643 19901986 - TTC32 protein_coding 130502 GO:0005515, protein binding, 203 140 208 184 128 222 238 190 176 ENSG00000183908 chr11 57181747 57191717 + LRRC55 protein_coding 219527 GO:0008076, GO:0008076, GO:0005887, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, GO:0099104, GO:0099104, GO:0044325, GO:0044325, GO:0005249, GO:0005249, potassium channel activator activity, potassium channel activator activity, ion channel binding, ion channel binding, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:1903818, GO:0071805, positive regulation of voltage-gated potassium channel activity, potassium ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000183909 chr15 101926164 101933350 - OR4G2P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183911 chrX 101339917 101340934 + RPL21P132 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000183914 chr17 7717354 7833744 + DNAH2 protein_coding Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]. 146754 GO:0036126, GO:0031514, GO:0031514, GO:0030286, GO:0005930, GO:0005930, GO:0005874, GO:0005858, sperm flagellum, motile cilium, motile cilium, dynein complex, axoneme, axoneme, microtubule, axonemal dynein complex, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0003777, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, microtubule motor activity, GO:0060285, GO:0007018, cilium-dependent cell motility, microtubule-based movement, 0 5 2 4 2 3 7 1 0 ENSG00000183918 chrX 124227868 124373197 + SH2D1A protein_coding This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 4068 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005515, protein binding, GO:0050860, GO:0050776, GO:0050776, GO:0045954, GO:0045087, GO:0007267, GO:0006968, GO:0006959, GO:0002250, negative regulation of T cell receptor signaling pathway, regulation of immune response, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, innate immune response, cell-cell signaling, cellular defense response, humoral immune response, adaptive immune response, 67 37 139 150 41 206 118 38 201 ENSG00000183921 chr16 22165583 22191754 + SDR42E2 protein_coding 100288072 GO:0016616, GO:0003854, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, GO:0055114, GO:0006694, oxidation-reduction process, steroid biosynthetic process, 0 0 1 6 2 9 1 5 3 ENSG00000183929 chr1 228650241 228651379 + DUSP5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183935 chr12 13000420 13004830 + HTR7P1 transcribed_processed_pseudogene 93164 19 28 16 15 23 42 22 20 23 ENSG00000183938 chr9 33629121 33629586 + TRBV21OR9-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000183943 chrX 3604370 3713608 - PRKX protein_coding This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]. 5613 GO:0005952, GO:0005737, GO:0005654, GO:0005634, cAMP-dependent protein kinase complex, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004691, GO:0004691, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, cAMP-dependent protein kinase activity, cAMP-dependent protein kinase activity, GO:2000696, GO:0060993, GO:0060562, GO:0046777, GO:0043542, GO:0031589, GO:0030334, GO:0030155, GO:0030099, GO:0018105, GO:0018105, GO:0007165, GO:0007155, GO:0001935, GO:0001525, regulation of epithelial cell differentiation involved in kidney development, kidney morphogenesis, epithelial tube morphogenesis, protein autophosphorylation, endothelial cell migration, cell-substrate adhesion, regulation of cell migration, regulation of cell adhesion, myeloid cell differentiation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, signal transduction, cell adhesion, endothelial cell proliferation, angiogenesis, 55 88 193 100 77 169 144 57 161 ENSG00000183955 chr12 123383773 123409358 + KMT5A protein_coding The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]. 387893 GO:0005829, GO:0005694, GO:0005654, GO:0005654, cytosol, chromosome, nucleoplasm, nucleoplasm, GO:0042799, GO:0018024, GO:0018024, GO:0016279, GO:0016278, GO:0005515, GO:0003714, GO:0002039, histone methyltransferase activity (H4-K20 specific), histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, lysine N-methyltransferase activity, protein binding, transcription corepressor activity, p53 binding, GO:1901796, GO:0051301, GO:0045892, GO:0043516, GO:0034770, GO:0018026, GO:0007049, GO:0000122, regulation of signal transduction by p53 class mediator, cell division, negative regulation of transcription, DNA-templated, regulation of DNA damage response, signal transduction by p53 class mediator, histone H4-K20 methylation, peptidyl-lysine monomethylation, cell cycle, negative regulation of transcription by RNA polymerase II, 383 310 485 217 309 320 229 276 323 ENSG00000183960 chr3 19148454 19535646 + KCNH8 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]. 131096 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005249, voltage-gated potassium channel activity, GO:0071805, GO:0042391, GO:0034765, potassium ion transmembrane transport, regulation of membrane potential, regulation of ion transmembrane transport, 2 1 1 2 2 7 2 2 11 ENSG00000183963 chr22 31064105 31104757 + SMTN protein_coding This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]. 6525 GO:0031941, GO:0015629, GO:0005856, GO:0005815, GO:0005737, filamentous actin, actin cytoskeleton, cytoskeleton, microtubule organizing center, cytoplasm, GO:0008307, GO:0003779, structural constituent of muscle, actin binding, GO:0030036, GO:0007517, GO:0006939, actin cytoskeleton organization, muscle organ development, smooth muscle contraction, 4 6 14 9 3 21 2 10 1 ENSG00000183971 chr16 2009926 2020755 + NPW protein_coding The product of this gene is processed into 23- and 30-amino acid neuropeptides that bind and activate two G-protein coupled receptors in the central nervous system. The neuropeptides have been shown to enhance cortisol secretion from adrenal cells through the adenylate cyclase/protein kinase A signaling cascade. The preproprotein is translated using a non-AUG initiation codon that is inferred from analyses of the mouse ortholog. [provided by RefSeq, Jul 2008]. 283869 GO:0005576, extracellular region, GO:0005515, GO:0001664, protein binding, G protein-coupled receptor binding, GO:0007631, GO:0007631, GO:0007218, GO:0007186, GO:0007186, GO:0007186, feeding behavior, feeding behavior, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000183977 chr3 19979961 20012330 - PP2D1 protein_coding 151649 GO:0004724, magnesium-dependent protein serine/threonine phosphatase activity, GO:0006470, GO:0006470, protein dephosphorylation, protein dephosphorylation, 351 279 492 228 230 284 216 170 185 ENSG00000183978 chr17 42795147 42798704 - COA3 protein_coding This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]. 28958 GO:0031305, GO:0031305, GO:0005739, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0070131, GO:0033617, GO:0033617, positive regulation of mitochondrial translation, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, 9 11 19 41 29 41 18 15 25 ENSG00000183979 chr17 81900745 81902905 + NPB protein_coding This gene encodes a member of the neuropeptide B/W family of proteins and preproprotein that is proteolytically processed to generate multiple protein products. The encoded products include neuropeptide B-23 and a C-terminally extended form, neuropeptide B-29, which are characterized by an N-terminal brominated tryptophan amino acid. Both of the encoded peptides bind with higher affinity to neuropeptide B/W (NPB/W) receptor 1 compared to the related NPB/W receptor 2. These peptides may regulate feeding, pain perception, and stress in rodents. [provided by RefSeq, Jul 2015]. 256933 GO:0005576, extracellular region, GO:0005515, GO:0001664, protein binding, G protein-coupled receptor binding, GO:0007631, GO:0007218, GO:0007186, GO:0007186, GO:0007186, feeding behavior, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 5 8 7 37 40 41 23 14 29 ENSG00000183981 chrX 138482745 138483695 + MAGEA13P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184005 chr1 76074719 76634601 + ST6GALNAC3 protein_coding ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]. 256435 GO:0016021, GO:0005654, GO:0000139, integral component of membrane, nucleoplasm, Golgi membrane, GO:0047290, GO:0008373, GO:0005515, GO:0001665, (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity, sialyltransferase activity, protein binding, alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity, GO:0009311, GO:0009100, GO:0006687, GO:0006677, GO:0006486, GO:0001574, oligosaccharide metabolic process, glycoprotein metabolic process, glycosphingolipid metabolic process, glycosylceramide metabolic process, protein glycosylation, ganglioside biosynthetic process, 25 31 46 44 42 43 33 29 42 ENSG00000184007 chr1 31906421 31944856 - PTP4A2 protein_coding The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 11, 12 and 17. [provided by RefSeq, Aug 2010]. 8073 GO:0005886, GO:0005829, GO:0005769, GO:0005737, GO:0005737, GO:0005634, plasma membrane, cytosol, early endosome, cytoplasm, cytoplasm, nucleus, GO:0005515, GO:0004727, GO:0004725, protein binding, prenylated protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:0043687, GO:0035335, post-translational protein modification, peptidyl-tyrosine dephosphorylation, 2566 2464 3349 1036 1679 1559 1030 1587 1316 ENSG00000184009 chr17 81509971 81523847 - ACTG1 protein_coding Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. 71 GO:0120220, GO:0097433, GO:0072562, GO:0070062, GO:0070062, GO:0045335, GO:0043296, GO:0031941, GO:0030016, GO:0016020, GO:0005925, GO:0005911, GO:0005886, GO:0005886, GO:0005884, GO:0005884, GO:0005856, GO:0005856, GO:0005829, GO:0005634, GO:0005615, basal body patch, dense body, blood microparticle, extracellular exosome, extracellular exosome, phagocytic vesicle, apical junction complex, filamentous actin, myofibril, membrane, focal adhesion, cell-cell junction, plasma membrane, plasma membrane, actin filament, actin filament, cytoskeleton, cytoskeleton, cytosol, nucleus, extracellular space, GO:0098973, GO:0042802, GO:0031625, GO:0005524, GO:0005522, GO:0005515, GO:0005200, structural constituent of postsynaptic actin cytoskeleton, identical protein binding, ubiquitin protein ligase binding, ATP binding, profilin binding, protein binding, structural constituent of cytoskeleton, GO:1902396, GO:0150111, GO:0120192, GO:0098974, GO:0090303, GO:0071346, GO:0070527, GO:0061024, GO:0051893, GO:0051492, GO:0048013, GO:0045214, GO:0038096, GO:0035633, GO:0034329, GO:0030335, GO:0010628, GO:0001895, GO:0001738, GO:0001525, protein localization to bicellular tight junction, regulation of transepithelial transport, tight junction assembly, postsynaptic actin cytoskeleton organization, positive regulation of wound healing, cellular response to interferon-gamma, platelet aggregation, membrane organization, regulation of focal adhesion assembly, regulation of stress fiber assembly, ephrin receptor signaling pathway, sarcomere organization, Fc-gamma receptor signaling pathway involved in phagocytosis, maintenance of blood-brain barrier, cell junction assembly, positive regulation of cell migration, positive regulation of gene expression, retina homeostasis, morphogenesis of a polarized epithelium, angiogenesis, 6529 4381 9654 25203 17320 14538 17024 9547 9196 ENSG00000184012 chr21 41464551 41531116 - TMPRSS2 protein_coding This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. This protein also facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. Viruses found to use this protein for cell entry include Influenza virus and the human coronaviruses HCoV-229E, MERS-CoV, SARS-CoV and SARS-CoV-2 (COVID-19 virus). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2020]. 7113 GO:0070062, GO:0005887, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, GO:0008236, GO:0005515, GO:0005044, GO:0004252, serine-type peptidase activity, protein binding, scavenger receptor activity, serine-type endopeptidase activity, GO:0046598, GO:0016540, GO:0016540, GO:0006897, GO:0006508, positive regulation of viral entry into host cell, protein autoprocessing, protein autoprocessing, endocytosis, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000184014 chr11 9138825 9265390 - DENND5A protein_coding This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]. 23258 GO:0030904, GO:0005829, GO:0005802, GO:0000139, retromer complex, cytosol, trans-Golgi network, Golgi membrane, GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0042147, GO:0010977, retrograde transport, endosome to Golgi, negative regulation of neuron projection development, 5969 5846 7564 3087 4190 3855 3459 3422 3287 ENSG00000184022 chr1 248590487 248597700 - OR2T10 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127069 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184029 chr21 37951425 38121360 - DSCR4 lincRNA The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015]. 10281 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000184032 chr21 30635236 30635619 + KRTAP20-2 protein_coding 337976 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000184033 chrX 154617609 154619282 - CTAG1B protein_coding The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012]. 1485 GO:0005737, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0070525, GO:0045944, tRNA threonylcarbamoyladenosine metabolic process, positive regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000184047 chr12 122207663 122226568 - DIABLO protein_coding This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]. 56616 GO:0035631, GO:0009898, GO:0005829, GO:0005758, GO:0005739, GO:0005739, CD40 receptor complex, cytoplasmic side of plasma membrane, cytosol, mitochondrial intermembrane space, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0097193, GO:0051402, GO:0043065, GO:0008635, GO:0008631, GO:0008625, GO:0006919, GO:0006915, intrinsic apoptotic signaling pathway, neuron apoptotic process, positive regulation of apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, intrinsic apoptotic signaling pathway in response to oxidative stress, extrinsic apoptotic signaling pathway via death domain receptors, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 52 86 58 132 126 144 117 91 108 ENSG00000184055 chr11 71593454 71594382 + OR7E87P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184056 chr15 90998416 91022603 - VPS33B protein_coding Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 26276 GO:0055037, GO:0048471, GO:0033263, GO:0031902, GO:0031901, GO:0031091, GO:0030897, GO:0030897, GO:0030136, GO:0005794, GO:0005770, GO:0005765, GO:0005764, GO:0005764, GO:0005737, recycling endosome, perinuclear region of cytoplasm, CORVET complex, late endosome membrane, early endosome membrane, platelet alpha granule, HOPS complex, HOPS complex, clathrin-coated vesicle, Golgi apparatus, late endosome, lysosomal membrane, lysosome, lysosome, cytoplasm, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:0097352, GO:0070889, GO:0061025, GO:0032963, GO:0032418, GO:0032400, GO:0017185, GO:0016192, GO:0016192, GO:0015031, GO:0008333, GO:0007032, GO:0006904, GO:0006886, autophagosome maturation, platelet alpha granule organization, membrane fusion, collagen metabolic process, lysosome localization, melanosome localization, peptidyl-lysine hydroxylation, vesicle-mediated transport, vesicle-mediated transport, protein transport, endosome to lysosome transport, endosome organization, vesicle docking involved in exocytosis, intracellular protein transport, 9 7 7 9 9 18 6 7 0 ENSG00000184058 chr22 19756703 19783593 + TBX1 protein_coding This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 6899 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0042803, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein homodimerization activity, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001054, GO:2001037, GO:2000027, GO:0097152, GO:0090103, GO:0071300, GO:0070166, GO:0060982, GO:0060415, GO:0060325, GO:0060037, GO:0060023, GO:0060017, GO:0050679, GO:0048844, GO:0048752, GO:0048703, GO:0048701, GO:0048644, GO:0048538, GO:0048514, GO:0048384, GO:0045944, GO:0045893, GO:0045596, GO:0044344, GO:0043587, GO:0043410, GO:0042693, GO:0042475, GO:0042474, GO:0042473, GO:0042472, GO:0042471, GO:0035909, GO:0035176, GO:0030878, GO:0030855, GO:0021644, GO:0009952, GO:0008284, GO:0008283, GO:0007605, GO:0007517, GO:0007507, GO:0007498, GO:0007389, GO:0007368, GO:0006357, GO:0006357, GO:0006357, GO:0003151, GO:0003148, GO:0003007, GO:0002053, GO:0001945, GO:0001934, GO:0001755, GO:0001708, GO:0001708, GO:0001568, GO:0001525, negative regulation of mesenchymal cell apoptotic process, positive regulation of tongue muscle cell differentiation, regulation of animal organ morphogenesis, mesenchymal cell apoptotic process, cochlea morphogenesis, cellular response to retinoic acid, enamel mineralization, coronary artery morphogenesis, muscle tissue morphogenesis, face morphogenesis, pharyngeal system development, soft palate development, parathyroid gland development, positive regulation of epithelial cell proliferation, artery morphogenesis, semicircular canal morphogenesis, embryonic viscerocranium morphogenesis, embryonic cranial skeleton morphogenesis, muscle organ morphogenesis, thymus development, blood vessel morphogenesis, retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of cell differentiation, cellular response to fibroblast growth factor stimulus, tongue morphogenesis, positive regulation of MAPK cascade, muscle cell fate commitment, odontogenesis of dentin-containing tooth, middle ear morphogenesis, outer ear morphogenesis, inner ear morphogenesis, ear morphogenesis, aorta morphogenesis, social behavior, thyroid gland development, epithelial cell differentiation, vagus nerve morphogenesis, anterior/posterior pattern specification, positive regulation of cell population proliferation, cell population proliferation, sensory perception of sound, muscle organ development, heart development, mesoderm development, pattern specification process, determination of left/right symmetry, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, outflow tract morphogenesis, outflow tract septum morphogenesis, heart morphogenesis, positive regulation of mesenchymal cell proliferation, lymph vessel development, positive regulation of protein phosphorylation, neural crest cell migration, cell fate specification, cell fate specification, blood vessel development, angiogenesis, 0 0 2 1 0 0 0 2 0 ENSG00000184060 chr17 30906344 30959322 + ADAP2 protein_coding The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]. 55803 GO:0043231, GO:0005886, GO:0005886, GO:0005740, GO:0005737, intracellular membrane-bounded organelle, plasma membrane, plasma membrane, mitochondrial envelope, cytoplasm, GO:0046872, GO:0043533, GO:0043325, GO:0030674, GO:0005547, GO:0005546, GO:0005515, GO:0005096, metal ion binding, inositol 1,3,4,5 tetrakisphosphate binding, phosphatidylinositol-3,4-bisphosphate binding, protein-macromolecule adaptor activity, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GTPase activator activity, GO:0048017, GO:0043547, GO:0007507, inositol lipid-mediated signaling, positive regulation of GTPase activity, heart development, 31 20 29 11 22 19 20 13 10 ENSG00000184068 chr22 41831215 41834665 - SREBF2-AS1 antisense 112637020 22 26 61 72 90 142 59 70 116 ENSG00000184076 chr22 29767369 29770413 + UQCR10 protein_coding UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]. 29796 GO:0016021, GO:0005750, GO:0005743, integral component of membrane, mitochondrial respiratory chain complex III, mitochondrial inner membrane, GO:0008121, ubiquinol-cytochrome-c reductase activity, GO:0009060, GO:0006122, GO:0006122, GO:0006122, aerobic respiration, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, 177 127 213 56 136 83 90 138 65 ENSG00000184083 chrX 54068324 54183281 - FAM120C protein_coding This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 54954 GO:0005634, nucleus, GO:0003723, RNA binding, 5 3 2 19 15 12 24 2 16 ENSG00000184084 chr5 73803296 73803599 - AC091868.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184100 chr3 160100850 160102793 + BRD7P2 processed_pseudogene 4 17 17 5 11 26 10 22 3 ENSG00000184106 chr6 41208713 41217947 - TREML3P transcribed_unprocessed_pseudogene 178 289 365 118 200 216 127 200 210 ENSG00000184108 chr4 188139419 188147743 + TRIML1 protein_coding The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]. 339976 GO:0005829, GO:0005737, GO:0005654, cytosol, cytoplasm, nucleoplasm, GO:0061630, GO:0046872, GO:0042803, GO:0019901, ubiquitin protein ligase activity, metal ion binding, protein homodimerization activity, protein kinase binding, GO:0051092, GO:0046596, GO:0045087, GO:0043123, GO:0032880, GO:0016567, GO:0010508, GO:0010468, GO:0007275, GO:0000209, positive regulation of NF-kappaB transcription factor activity, regulation of viral entry into host cell, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of protein localization, protein ubiquitination, positive regulation of autophagy, regulation of gene expression, multicellular organism development, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000184110 chr16 28688558 28735730 + EIF3C protein_coding 8663 GO:0033290, GO:0016282, GO:0005852, GO:0005852, GO:0005829, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, eukaryotic translation initiation factor 3 complex, eukaryotic translation initiation factor 3 complex, cytosol, GO:0043022, GO:0031369, GO:0005515, GO:0003743, GO:0003743, GO:0003743, GO:0003723, ribosome binding, translation initiation factor binding, protein binding, translation initiation factor activity, translation initiation factor activity, translation initiation factor activity, RNA binding, GO:1902416, GO:0045727, GO:0006413, GO:0006413, GO:0006413, GO:0006413, GO:0001732, positive regulation of mRNA binding, positive regulation of translation, translational initiation, translational initiation, translational initiation, translational initiation, formation of cytoplasmic translation initiation complex, 13 10 75 126 16 85 47 14 20 ENSG00000184111 chr10 92596852 92597287 - RPL11P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184113 chr22 19523024 19527545 - CLDN5 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]. 7122 GO:0070160, GO:0030864, GO:0030054, GO:0016327, GO:0016021, GO:0016021, GO:0005923, GO:0005923, GO:0005923, GO:0005911, GO:0005911, GO:0005886, GO:0005886, tight junction, cortical actin cytoskeleton, cell junction, apicolateral plasma membrane, integral component of membrane, integral component of membrane, bicellular tight junction, bicellular tight junction, bicellular tight junction, cell-cell junction, cell-cell junction, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:2000810, GO:1990963, GO:1903348, GO:1903142, GO:0120192, GO:0070830, GO:0060325, GO:0060021, GO:0043116, GO:0035633, GO:0035633, GO:0032092, GO:0030336, GO:0016525, GO:0016338, GO:0010629, GO:0010629, GO:0010628, GO:0010628, GO:0008284, GO:0007612, GO:0007179, GO:0007155, GO:0007043, GO:0003151, regulation of bicellular tight junction assembly, establishment of blood-retinal barrier, positive regulation of bicellular tight junction assembly, positive regulation of establishment of endothelial barrier, tight junction assembly, bicellular tight junction assembly, face morphogenesis, roof of mouth development, negative regulation of vascular permeability, maintenance of blood-brain barrier, maintenance of blood-brain barrier, positive regulation of protein binding, negative regulation of cell migration, negative regulation of angiogenesis, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of cell population proliferation, learning, transforming growth factor beta receptor signaling pathway, cell adhesion, cell-cell junction assembly, outflow tract morphogenesis, 0 3 1 0 1 1 1 0 0 ENSG00000184115 chr2 110397406 110435166 - AC112229.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184117 chr22 29554808 29581337 - NIPSNAP1 protein_coding This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]. 8508 GO:0097060, GO:0005739, GO:0005739, synaptic membrane, mitochondrion, mitochondrion, GO:0042165, GO:0005515, neurotransmitter binding, protein binding, GO:0019233, sensory perception of pain, 77 38 74 63 56 56 66 45 99 ENSG00000184139 chr4 131857343 131857913 - RPL7AP28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184140 chr15 101803509 101806887 + OR4F6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390648 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184144 chr1 205042937 205078284 + CNTN2 protein_coding This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]. 6900 GO:0099025, GO:0099025, GO:0045202, GO:0044224, GO:0043209, GO:0043025, GO:0033268, GO:0030424, GO:0009986, GO:0005886, GO:0005886, anchored component of postsynaptic membrane, anchored component of postsynaptic membrane, synapse, juxtaparanode region of axon, myelin sheath, neuronal cell body, node of Ranvier, axon, cell surface, plasma membrane, plasma membrane, GO:0098632, GO:0043621, GO:0042802, GO:0030246, GO:0005515, cell-cell adhesion mediator activity, protein self-association, identical protein binding, carbohydrate binding, protein binding, GO:0097090, GO:0071206, GO:0071205, GO:0070593, GO:0060168, GO:0048710, GO:0048168, GO:0045665, GO:0045163, GO:0031623, GO:0031133, GO:0022010, GO:0021853, GO:0010954, GO:0007628, GO:0007612, GO:0007413, GO:0007411, GO:0007156, GO:0007155, GO:0000226, presynaptic membrane organization, establishment of protein localization to juxtaparanode region of axon, protein localization to juxtaparanode region of axon, dendrite self-avoidance, positive regulation of adenosine receptor signaling pathway, regulation of astrocyte differentiation, regulation of neuronal synaptic plasticity, negative regulation of neuron differentiation, clustering of voltage-gated potassium channels, receptor internalization, regulation of axon diameter, central nervous system myelination, cerebral cortex GABAergic interneuron migration, positive regulation of protein processing, adult walking behavior, learning, axonal fasciculation, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, microtubule cytoskeleton organization, 3 3 2 1 0 0 0 4 0 ENSG00000184148 chr1 152970666 152972574 + SPRR4 protein_coding 163778 GO:0005938, cell cortex, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000184154 chr11 72080331 72110782 + LRTOMT protein_coding This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017]. 220074 GO:0016021, GO:0005886, GO:0005783, GO:0005575, integral component of membrane, plasma membrane, endoplasmic reticulum, cellular_component, GO:0102938, GO:0102084, GO:0016206, GO:0016206, GO:0016206, GO:0008171, orcinol O-methyltransferase activity, L-dopa O-methyltransferase activity, catechol O-methyltransferase activity, catechol O-methyltransferase activity, catechol O-methyltransferase activity, O-methyltransferase activity, GO:0060117, GO:0042424, GO:0042424, GO:0042417, GO:0042135, GO:0032502, GO:0032259, GO:0007605, auditory receptor cell development, catecholamine catabolic process, catecholamine catabolic process, dopamine metabolic process, neurotransmitter catabolic process, developmental process, methylation, sensory perception of sound, 63 72 79 17 68 30 30 33 42 ENSG00000184155 chr1 159535078 159536007 - OR10J5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127385 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 0 0 0 ENSG00000184156 chr8 132120858 132481019 - KCNQ3 protein_coding This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]. 3786 GO:0045202, GO:0043194, GO:0043194, GO:0033268, GO:0016021, GO:0009986, GO:0008076, GO:0008076, GO:0005887, GO:0005886, GO:0005886, synapse, axon initial segment, axon initial segment, node of Ranvier, integral component of membrane, cell surface, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0005516, GO:0005516, GO:0005515, GO:0005251, GO:0005249, GO:0005249, calmodulin binding, calmodulin binding, protein binding, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0060081, GO:0034765, GO:0007268, potassium ion transmembrane transport, potassium ion transmembrane transport, membrane hyperpolarization, regulation of ion transmembrane transport, chemical synaptic transmission, 0 0 0 0 0 0 1 0 0 ENSG00000184160 chr4 3766348 3768526 + ADRA2C protein_coding Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]. 152 GO:0099055, GO:0043679, GO:0043025, GO:0005887, GO:0005887, GO:0005886, GO:0005768, GO:0005737, integral component of postsynaptic membrane, axon terminus, neuronal cell body, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, endosome, cytoplasm, GO:0051379, GO:0051379, GO:0046982, GO:0042803, GO:0042802, GO:0031694, GO:0005515, GO:0004938, GO:0004938, GO:0004930, epinephrine binding, epinephrine binding, protein heterodimerization activity, protein homodimerization activity, identical protein binding, alpha-2A adrenergic receptor binding, protein binding, alpha2-adrenergic receptor activity, alpha2-adrenergic receptor activity, G protein-coupled receptor activity, GO:0071880, GO:0071875, GO:0070473, GO:0051930, GO:0050796, GO:0045907, GO:0045666, GO:0043410, GO:0035624, GO:0032811, GO:0032148, GO:0030168, GO:0010700, GO:0010700, GO:0007565, GO:0007267, GO:0007186, GO:0007186, adenylate cyclase-activating adrenergic receptor signaling pathway, adrenergic receptor signaling pathway, negative regulation of uterine smooth muscle contraction, regulation of sensory perception of pain, regulation of insulin secretion, positive regulation of vasoconstriction, positive regulation of neuron differentiation, positive regulation of MAPK cascade, receptor transactivation, negative regulation of epinephrine secretion, activation of protein kinase B activity, platelet activation, negative regulation of norepinephrine secretion, negative regulation of norepinephrine secretion, female pregnancy, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184162 chr19 19201416 19203424 - NR2C2AP protein_coding 126382 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0006367, transcription initiation from RNA polymerase II promoter, 58 37 43 69 40 41 70 46 55 ENSG00000184163 chr1 1242446 1246722 - C1QTNF12 protein_coding 388581 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005179, GO:0005179, hormone activity, hormone activity, GO:0051897, GO:0050728, GO:0046628, GO:0046326, GO:0046324, GO:0045721, GO:0035774, GO:0007165, positive regulation of protein kinase B signaling, negative regulation of inflammatory response, positive regulation of insulin receptor signaling pathway, positive regulation of glucose import, regulation of glucose import, negative regulation of gluconeogenesis, positive regulation of insulin secretion involved in cellular response to glucose stimulus, signal transduction, 20 15 11 12 13 6 2 13 8 ENSG00000184164 chr22 49918167 49927540 + CRELD2 protein_coding 79174 GO:0005794, GO:0005783, GO:0005615, Golgi apparatus, endoplasmic reticulum, extracellular space, GO:0005515, GO:0005509, GO:0003756, protein binding, calcium ion binding, protein disulfide isomerase activity, 96 78 171 107 109 191 90 81 147 ENSG00000184166 chr17 3088484 3104422 - OR1D2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 4991 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0004984, GO:0004984, GO:0004930, identical protein binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007338, GO:0007186, GO:0006935, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, single fertilization, G protein-coupled receptor signaling pathway, chemotaxis, 1 0 0 0 0 0 0 0 0 ENSG00000184178 chr4 52872982 53366075 - SCFD2 protein_coding 152579 GO:0030141, GO:0005886, GO:0005575, secretory granule, plasma membrane, cellular_component, GO:0019905, GO:0003674, syntaxin binding, molecular_function, GO:0016192, GO:0008150, GO:0006904, GO:0006886, vesicle-mediated transport, biological_process, vesicle docking involved in exocytosis, intracellular protein transport, 3 8 9 22 2 30 23 9 6 ENSG00000184182 chr2 237966827 238042782 + UBE2F protein_coding 140739 GO:0005829, GO:0005634, cytosol, nucleus, GO:0061654, GO:0061631, GO:0019788, GO:0019788, GO:0005524, GO:0005515, NEDD8 conjugating enzyme activity, ubiquitin conjugating enzyme activity, NEDD8 transferase activity, NEDD8 transferase activity, ATP binding, protein binding, GO:0045116, GO:0045116, GO:0045116, GO:0043687, GO:0000209, protein neddylation, protein neddylation, protein neddylation, post-translational protein modification, protein polyubiquitination, 49 49 30 56 52 83 51 34 47 ENSG00000184185 chr17 21376197 21419872 + KCNJ12 protein_coding This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 3768 GO:0031224, GO:0016021, GO:0005886, GO:0005886, intrinsic component of membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005242, GO:0005242, protein binding, inward rectifier potassium channel activity, inward rectifier potassium channel activity, GO:1990573, GO:0061337, GO:0051289, GO:0034765, GO:0008016, GO:0006936, GO:0006813, potassium ion import across plasma membrane, cardiac conduction, protein homotetramerization, regulation of ion transmembrane transport, regulation of heart contraction, muscle contraction, potassium ion transport, 0 0 1 0 0 2 0 0 0 ENSG00000184188 chr5 80299678 80302847 - AC026410.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184194 chrX 53049091 53080615 + GPR173 protein_coding This gene encodes a member of the G-protein coupled receptor 1 family. This protein contains 7 transmembrane domains and conserved cysteine residues. [provided by RefSeq, Nov 2009]. 54328 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004968, GO:0004930, gonadotropin-releasing hormone receptor activity, G protein-coupled receptor activity, GO:2001223, GO:0097211, GO:0007186, GO:0007165, negative regulation of neuron migration, cellular response to gonadotropin-releasing hormone, G protein-coupled receptor signaling pathway, signal transduction, 0 0 4 0 0 0 0 0 0 ENSG00000184203 chr3 195514425 195543386 - PPP1R2 protein_coding Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5504 GO:0005515, GO:0004865, GO:0004864, protein binding, protein serine/threonine phosphatase inhibitor activity, protein phosphatase inhibitor activity, GO:0043666, GO:0032515, GO:0009966, GO:0006091, GO:0005977, regulation of phosphoprotein phosphatase activity, negative regulation of phosphoprotein phosphatase activity, regulation of signal transduction, generation of precursor metabolites and energy, glycogen metabolic process, 1395 1495 2044 936 1247 1272 1082 1077 1106 ENSG00000184205 chrX 53082367 53088540 + TSPYL2 protein_coding This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009]. 64061 GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleolus, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0005515, GO:0003682, GO:0000182, histone binding, protein binding, chromatin binding, rDNA binding, GO:0045859, GO:0045786, GO:0036498, GO:0030308, GO:0009966, GO:0008156, GO:0007049, GO:0006334, regulation of protein kinase activity, negative regulation of cell cycle, IRE1-mediated unfolded protein response, negative regulation of cell growth, regulation of signal transduction, negative regulation of DNA replication, cell cycle, nucleosome assembly, 680 585 1000 2602 2190 3098 1931 1087 1717 ENSG00000184206 chr15 84235773 84245368 + GOLGA6L4 protein_coding 643707 0 0 1 0 0 0 2 0 0 ENSG00000184207 chr16 2211997 2214807 - PGP protein_coding 283871 GO:0005737, cytoplasm, GO:0098519, GO:0043136, GO:0043136, GO:0016791, GO:0008967, GO:0004725, GO:0000287, GO:0000121, nucleotide phosphatase activity, acting on free nucleotides, glycerol-3-phosphatase activity, glycerol-3-phosphatase activity, phosphatase activity, phosphoglycolate phosphatase activity, protein tyrosine phosphatase activity, magnesium ion binding, glycerol-1-phosphatase activity, GO:0045721, GO:0035335, GO:0016311, GO:0016311, GO:0006650, GO:0006650, GO:0006114, GO:0006114, negative regulation of gluconeogenesis, peptidyl-tyrosine dephosphorylation, dephosphorylation, dephosphorylation, glycerophospholipid metabolic process, glycerophospholipid metabolic process, glycerol biosynthetic process, glycerol biosynthetic process, 107 109 107 73 117 85 98 110 83 ENSG00000184208 chr22 41688939 41698136 + C22orf46 protein_coding 79640 GO:0005576, extracellular region, 60 81 111 223 90 123 132 73 89 ENSG00000184209 chr12 123457641 123473154 + SNRNP35 protein_coding The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013]. 11066 GO:0005689, GO:0005689, GO:0005654, GO:0005634, U12-type spliceosomal complex, U12-type spliceosomal complex, nucleoplasm, nucleus, GO:0017069, GO:0003729, snRNA binding, mRNA binding, GO:0008380, GO:0000398, GO:0000398, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 160 151 168 150 172 137 136 162 186 ENSG00000184210 chrX 70177483 70205545 + DGAT2L6 protein_coding This gene is a member of the diacylglycerol acyltransferase 2 family. The encoded protein is a putative acyltransferase and is most likely involved in the synthesis of di- or triacylglycerol, however its substrate specificity is currently unknown. [provided by RefSeq, Feb 2015]. 347516 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0008374, GO:0005515, O-acyltransferase activity, protein binding, GO:0036155, GO:0006640, GO:0006629, acylglycerol acyl-chain remodeling, monoacylglycerol biosynthetic process, lipid metabolic process, 0 0 4 0 0 3 0 0 0 ENSG00000184216 chrX 154010500 154019980 - IRAK1 protein_coding This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3654 GO:0032991, GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005811, GO:0005737, GO:0005654, GO:0005634, protein-containing complex, endosome membrane, plasma membrane, plasma membrane, cytosol, cytosol, lipid droplet, cytoplasm, nucleoplasm, nucleus, GO:0106311, GO:0106310, GO:0046982, GO:0042803, GO:0042802, GO:0031072, GO:0016301, GO:0005524, GO:0005515, GO:0004704, GO:0004674, GO:0004672, GO:0004672, protein threonine kinase activity, protein serine kinase activity, protein heterodimerization activity, protein homodimerization activity, identical protein binding, heat shock protein binding, kinase activity, ATP binding, protein binding, NF-kappaB-inducing kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, GO:1904996, GO:1901224, GO:0071456, GO:0071222, GO:0070555, GO:0070498, GO:0070498, GO:0070498, GO:0070423, GO:0060337, GO:0051092, GO:0051092, GO:0051092, GO:0048661, GO:0046777, GO:0045087, GO:0043406, GO:0043123, GO:0043123, GO:0043123, GO:0043066, GO:0035556, GO:0034605, GO:0034162, GO:0034142, GO:0034134, GO:0034134, GO:0032496, GO:0032481, GO:0032088, GO:0031663, GO:0019221, GO:0016032, GO:0007568, GO:0007254, GO:0007250, GO:0006468, GO:0002755, GO:0002224, GO:0001959, GO:0000187, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of NIK/NF-kappaB signaling, cellular response to hypoxia, cellular response to lipopolysaccharide, response to interleukin-1, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, type I interferon signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of smooth muscle cell proliferation, protein autophosphorylation, innate immune response, positive regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of apoptotic process, intracellular signal transduction, cellular response to heat, toll-like receptor 9 signaling pathway, toll-like receptor 4 signaling pathway, toll-like receptor 2 signaling pathway, toll-like receptor 2 signaling pathway, response to lipopolysaccharide, positive regulation of type I interferon production, negative regulation of NF-kappaB transcription factor activity, lipopolysaccharide-mediated signaling pathway, cytokine-mediated signaling pathway, viral process, aging, JNK cascade, activation of NF-kappaB-inducing kinase activity, protein phosphorylation, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of cytokine-mediated signaling pathway, activation of MAPK activity, 650 856 753 739 724 596 804 676 543 ENSG00000184220 chr3 99817834 100181732 + CMSS1 protein_coding 84319 GO:0005515, GO:0003723, protein binding, RNA binding, 5 2 7 14 6 18 17 8 9 ENSG00000184221 chr21 33070144 33072420 + OLIG1 protein_coding 116448 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048663, GO:0030182, GO:0014003, GO:0006357, neuron fate commitment, neuron differentiation, oligodendrocyte development, regulation of transcription by RNA polymerase II, 99 233 1139 8 17 19 17 17 29 ENSG00000184224 chr11 67602880 67606706 - C11orf72 lincRNA 100505621 0 0 0 0 0 0 0 0 0 ENSG00000184226 chr13 66302834 67230445 - PCDH9 protein_coding This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012]. 5101 GO:0044291, GO:0030426, GO:0005887, cell-cell contact zone, growth cone, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 4 6 4 11 19 10 16 10 7 ENSG00000184227 chr14 73537114 73543794 + ACOT1 protein_coding 641371 GO:0005829, GO:0005829, cytosol, cytosol, GO:0102991, GO:0052689, GO:0047617, GO:0047617, GO:0016290, myristoyl-CoA hydrolase activity, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, acyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, GO:0006637, GO:0006637, GO:0006637, GO:0006631, GO:0001676, GO:0000038, acyl-CoA metabolic process, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 3 1 1 0 0 5 0 2 0 ENSG00000184232 chr11 120210767 120230332 + OAF protein_coding 220323 2 3 3 11 6 5 1 10 0 ENSG00000184254 chr15 100877714 100916626 + ALDH1A3 protein_coding This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 220 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0070403, GO:0070324, GO:0042803, GO:0004030, GO:0004029, GO:0001758, NAD+ binding, thyroid hormone binding, protein homodimerization activity, aldehyde dehydrogenase [NAD(P)+] activity, aldehyde dehydrogenase (NAD+) activity, retinal dehydrogenase activity, GO:0070384, GO:0060324, GO:0060166, GO:0060013, GO:0055114, GO:0051289, GO:0050885, GO:0048048, GO:0043065, GO:0042574, GO:0042573, GO:0042572, GO:0042472, GO:0031076, GO:0021768, GO:0007626, GO:0002138, GO:0002072, Harderian gland development, face development, olfactory pit development, righting reflex, oxidation-reduction process, protein homotetramerization, neuromuscular process controlling balance, embryonic eye morphogenesis, positive regulation of apoptotic process, retinal metabolic process, retinoic acid metabolic process, retinol metabolic process, inner ear morphogenesis, embryonic camera-type eye development, nucleus accumbens development, locomotory behavior, retinoic acid biosynthetic process, optic cup morphogenesis involved in camera-type eye development, 1 1 1 0 0 0 0 0 0 ENSG00000184258 chrX 140783578 140784366 - CDR1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000184260 chr1 149886975 149887364 + HIST2H2AC protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. [provided by RefSeq, Aug 2015]. 8338 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0003677, GO:0003674, protein heterodimerization activity, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 86 86 71 44 94 148 70 104 44 ENSG00000184261 chr2 47516581 47570939 - KCNK12 protein_coding This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]. 56660 GO:0005887, integral component of plasma membrane, GO:0022841, GO:0005244, potassium ion leak channel activity, voltage-gated ion channel activity, GO:0071805, GO:0034765, GO:0030322, potassium ion transmembrane transport, regulation of ion transmembrane transport, stabilization of membrane potential, 0 0 1 2 2 0 0 2 4 ENSG00000184270 chr1 149887524 149887916 - HIST2H2AB protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]. 317772 GO:0070062, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, GO:0003674, protein heterodimerization activity, protein binding, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 2 8 4 13 18 4 14 17 21 ENSG00000184271 chr12 51186936 51217708 - POU6F1 protein_coding 5463 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007517, GO:0007507, GO:0007420, GO:0006357, GO:0000122, muscle organ development, heart development, brain development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 26 17 45 49 31 63 45 30 50 ENSG00000184274 chr21 45300245 45305257 - LINC00315 lincRNA 0 1 0 0 1 0 0 2 0 ENSG00000184276 chr11 71833200 71837710 + DEFB108B protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. A pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Oct 2014]. 245911 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 2 0 0 0 0 0 0 0 ENSG00000184277 chr15 101621444 101652391 - TM2D3 protein_coding The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]. 80213 GO:0044214, spanning component of plasma membrane, GO:0046331, GO:0046331, GO:0045747, lateral inhibition, lateral inhibition, positive regulation of Notch signaling pathway, 663 682 702 563 738 700 547 488 452 ENSG00000184281 chr11 2400488 2403878 + TSSC4 protein_coding This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 10078 GO:0005515, protein binding, 433 426 461 155 245 261 147 240 206 ENSG00000184292 chr1 58575423 58577773 - TACSTD2 protein_coding This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]. 4070 GO:0070062, GO:0016328, GO:0016021, GO:0016020, GO:0009925, GO:0005829, GO:0005634, GO:0005615, extracellular exosome, lateral plasma membrane, integral component of membrane, membrane, basal plasma membrane, cytosol, nucleus, extracellular space, GO:0005515, protein binding, GO:2000738, GO:2000146, GO:1900028, GO:1900025, GO:0090191, GO:0060675, GO:0051497, GO:0050896, GO:0050678, GO:0010633, GO:0007601, positive regulation of stem cell differentiation, negative regulation of cell motility, negative regulation of ruffle assembly, negative regulation of substrate adhesion-dependent cell spreading, negative regulation of branching involved in ureteric bud morphogenesis, ureteric bud morphogenesis, negative regulation of stress fiber assembly, response to stimulus, regulation of epithelial cell proliferation, negative regulation of epithelial cell migration, visual perception, 1 7 20 3 11 12 2 7 7 ENSG00000184293 chr12 9715860 9733299 - CLECL1 protein_coding This gene encodes a type II transmembrane, C-type lectin-like protein that is highly expressed on dendritic and B cells. This protein may act as a T-cell costimulatory molecule that enhances interleukin-4 production, and maybe involved in the regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 160365 GO:0034451, GO:0016021, GO:0005886, centriolar satellite, integral component of membrane, plasma membrane, GO:0030246, GO:0003674, carbohydrate binding, molecular_function, GO:0097323, GO:0042102, GO:0032633, B cell adhesion, positive regulation of T cell proliferation, interleukin-4 production, 4 2 3 6 4 6 6 1 5 ENSG00000184302 chr14 60508951 60512850 + SIX6 protein_coding The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]. 4990 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0009887, GO:0007601, GO:0006357, GO:0006357, GO:0001654, animal organ morphogenesis, visual perception, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000184303 chr2 91684447 91685884 - DRD5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184304 chr14 29576479 30191898 - PRKD1 protein_coding The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]. 5587 GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005802, GO:0005794, GO:0000421, plasma membrane, cytosol, cytosol, cytosol, trans-Golgi network, Golgi apparatus, autophagosome membrane, GO:0046872, GO:0042802, GO:0016301, GO:0005524, GO:0005515, GO:0004698, GO:0004697, GO:0004674, GO:0004674, GO:0004674, metal ion binding, identical protein binding, kinase activity, ATP binding, protein binding, calcium-dependent protein kinase C activity, protein kinase C activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2001044, GO:2001028, GO:1901727, GO:0089700, GO:0089700, GO:0071447, GO:0060548, GO:0051092, GO:0048193, GO:0048010, GO:0046777, GO:0046777, GO:0045944, GO:0045806, GO:0045766, GO:0045766, GO:0045669, GO:0045087, GO:0043552, GO:0043536, GO:0043536, GO:0043123, GO:0038033, GO:0038033, GO:0035924, GO:0035924, GO:0035556, GO:0034599, GO:0034198, GO:0033138, GO:0032793, GO:0031647, GO:0030148, GO:0018107, GO:0018107, GO:0018107, GO:0018105, GO:0018105, GO:0010976, GO:0010837, GO:0010595, GO:0010508, GO:0007265, GO:0007229, GO:0007165, GO:0007030, GO:0006954, GO:0006915, GO:0006468, GO:0001938, GO:0001525, regulation of integrin-mediated signaling pathway, positive regulation of endothelial cell chemotaxis, positive regulation of histone deacetylase activity, protein kinase D signaling, protein kinase D signaling, cellular response to hydroperoxide, negative regulation of cell death, positive regulation of NF-kappaB transcription factor activity, Golgi vesicle transport, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, protein autophosphorylation, positive regulation of transcription by RNA polymerase II, negative regulation of endocytosis, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of osteoblast differentiation, innate immune response, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway, positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway, cellular response to vascular endothelial growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, intracellular signal transduction, cellular response to oxidative stress, cellular response to amino acid starvation, positive regulation of peptidyl-serine phosphorylation, positive regulation of CREB transcription factor activity, regulation of protein stability, sphingolipid biosynthetic process, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, positive regulation of neuron projection development, regulation of keratinocyte proliferation, positive regulation of endothelial cell migration, positive regulation of autophagy, Ras protein signal transduction, integrin-mediated signaling pathway, signal transduction, Golgi organization, inflammatory response, apoptotic process, protein phosphorylation, positive regulation of endothelial cell proliferation, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000184305 chr4 90127535 91601913 + CCSER1 protein_coding 401145 2 1 3 4 3 7 0 1 0 ENSG00000184307 chr3 113947901 113965401 + ZDHHC23 protein_coding 254887 GO:0016021, GO:0005794, GO:0005783, GO:0005575, GO:0000139, integral component of membrane, Golgi apparatus, endoplasmic reticulum, cellular_component, Golgi membrane, GO:0019706, GO:0005515, GO:0003674, protein-cysteine S-palmitoyltransferase activity, protein binding, molecular_function, GO:0072659, GO:0018345, GO:0018230, GO:0006612, protein localization to plasma membrane, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 32 27 53 38 40 39 35 20 32 ENSG00000184313 chr1 54641754 54710266 + MROH7 protein_coding 374977 GO:0016021, GO:0005615, integral component of membrane, extracellular space, 0 1 1 0 0 2 0 0 0 ENSG00000184319 chr22 50756948 50801309 + RPL23AP82 transcribed_unprocessed_pseudogene 17 18 22 15 20 12 23 15 17 ENSG00000184321 chr11 5402597 5403547 + OR51J1 unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 79470 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184330 chr1 153416524 153423225 + S100A7A protein_coding 338324 GO:0005829, GO:0005615, cytosol, extracellular space, GO:0048306, GO:0046914, GO:0043621, GO:0005515, GO:0005509, calcium-dependent protein binding, transition metal ion binding, protein self-association, protein binding, calcium ion binding, 0 0 2 0 0 0 0 0 0 ENSG00000184343 chrX 153776412 153785732 + SRPK3 protein_coding This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. 26576 GO:0005737, GO:0005634, GO:0005575, cytoplasm, nucleus, cellular_component, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004707, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, MAP kinase activity, GO:0060537, GO:0050684, GO:0035556, GO:0030154, GO:0010468, GO:0007519, GO:0000245, GO:0000165, muscle tissue development, regulation of mRNA processing, intracellular signal transduction, cell differentiation, regulation of gene expression, skeletal muscle tissue development, spliceosomal complex assembly, MAPK cascade, 4 11 7 2 11 0 6 2 6 ENSG00000184344 chr12 7689782 7695776 - GDF3 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]. 9573 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0019901, GO:0008083, GO:0005125, protein kinase binding, growth factor activity, cytokine activity, GO:0090009, GO:0060395, GO:0048859, GO:0045662, GO:0045605, GO:0045600, GO:0032525, GO:0030903, GO:0030514, GO:0030509, GO:0010862, GO:0010453, GO:0007498, GO:0007492, GO:0002021, GO:0001701, GO:0001654, GO:0001501, primitive streak formation, SMAD protein signal transduction, formation of anatomical boundary, negative regulation of myoblast differentiation, negative regulation of epidermal cell differentiation, positive regulation of fat cell differentiation, somite rostral/caudal axis specification, notochord development, negative regulation of BMP signaling pathway, BMP signaling pathway, positive regulation of pathway-restricted SMAD protein phosphorylation, regulation of cell fate commitment, mesoderm development, endoderm development, response to dietary excess, in utero embryonic development, eye development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000184345 chr3 51861629 51863424 + IQCF2 protein_coding 389123 GO:0005516, GO:0005515, calmodulin binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000184347 chr5 168661733 169301129 - SLIT3 protein_coding The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 6586 GO:0005739, GO:0005615, mitochondrion, extracellular space, GO:0048495, GO:0048495, GO:0008201, GO:0005509, Roundabout binding, Roundabout binding, heparin binding, calcium ion binding, GO:0070100, GO:0061364, GO:0060412, GO:0051414, GO:0050919, GO:0050919, GO:0048846, GO:0035385, GO:0032870, GO:0030308, GO:0021834, GO:0010629, GO:0008285, GO:0007411, GO:0007411, GO:0003181, GO:0003180, negative regulation of chemokine-mediated signaling pathway, apoptotic process involved in luteolysis, ventricular septum morphogenesis, response to cortisol, negative chemotaxis, negative chemotaxis, axon extension involved in axon guidance, Roundabout signaling pathway, cellular response to hormone stimulus, negative regulation of cell growth, chemorepulsion involved in embryonic olfactory bulb interneuron precursor migration, negative regulation of gene expression, negative regulation of cell population proliferation, axon guidance, axon guidance, atrioventricular valve morphogenesis, aortic valve morphogenesis, 0 0 0 4 0 0 0 0 0 ENSG00000184349 chr5 107376889 107670895 - EFNA5 protein_coding Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]. 1946 GO:0031362, GO:0031362, GO:0005912, GO:0005901, GO:0005886, GO:0005886, GO:0005886, GO:0005604, anchored component of external side of plasma membrane, anchored component of external side of plasma membrane, adherens junction, caveola, plasma membrane, plasma membrane, plasma membrane, basement membrane, GO:0046875, GO:0046875, GO:0045499, GO:0030297, GO:0005515, GO:0005170, GO:0005169, GO:0005168, ephrin receptor binding, ephrin receptor binding, chemorepellent activity, transmembrane receptor protein tyrosine kinase activator activity, protein binding, neurotrophin TRKC receptor binding, neurotrophin TRKB receptor binding, neurotrophin TRKA receptor binding, GO:1904322, GO:1900025, GO:0071372, GO:0070507, GO:0061178, GO:0051965, GO:0051893, GO:0050919, GO:0050731, GO:0048672, GO:0048668, GO:0048013, GO:0048013, GO:0048013, GO:0043087, GO:0043087, GO:0032956, GO:0032956, GO:0031290, GO:0022604, GO:0022407, GO:0022407, GO:0007411, GO:0007399, GO:0007171, GO:0006915, GO:0001934, cellular response to forskolin, negative regulation of substrate adhesion-dependent cell spreading, cellular response to follicle-stimulating hormone stimulus, regulation of microtubule cytoskeleton organization, regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of synapse assembly, regulation of focal adhesion assembly, negative chemotaxis, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of collateral sprouting, collateral sprouting, ephrin receptor signaling pathway, ephrin receptor signaling pathway, ephrin receptor signaling pathway, regulation of GTPase activity, regulation of GTPase activity, regulation of actin cytoskeleton organization, regulation of actin cytoskeleton organization, retinal ganglion cell axon guidance, regulation of cell morphogenesis, regulation of cell-cell adhesion, regulation of cell-cell adhesion, axon guidance, nervous system development, activation of transmembrane receptor protein tyrosine kinase activity, apoptotic process, positive regulation of protein phosphorylation, 4 3 4 2 5 0 3 1 3 ENSG00000184350 chr11 3227698 3232386 - MRGPRE protein_coding 116534 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184351 chr21 30479699 30480344 - KRTAP19-1 protein_coding 337882 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000184357 chr6 27866849 27867529 - HIST1H1B protein_coding Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 3009 GO:0005634, GO:0005634, GO:0000792, GO:0000791, GO:0000786, GO:0000785, nucleus, nucleus, heterochromatin, euchromatin, nucleosome, chromatin, GO:0042826, GO:0031492, GO:0031490, GO:0005515, GO:0003723, GO:0003690, histone deacetylase binding, nucleosomal DNA binding, chromatin DNA binding, protein binding, RNA binding, double-stranded DNA binding, GO:0071169, GO:0051574, GO:0050821, GO:0045910, GO:0031936, GO:0030307, GO:0030261, GO:0016584, GO:0007517, GO:0006334, GO:0006325, GO:0000122, establishment of protein localization to chromatin, positive regulation of histone H3-K9 methylation, protein stabilization, negative regulation of DNA recombination, negative regulation of chromatin silencing, positive regulation of cell growth, chromosome condensation, nucleosome positioning, muscle organ development, nucleosome assembly, chromatin organization, negative regulation of transcription by RNA polymerase II, 0 2 0 1 0 3 2 0 0 ENSG00000184361 chr17 45254393 45262112 - SPATA32 protein_coding 124783 GO:0048471, perinuclear region of cytoplasm, GO:0005515, GO:0003779, protein binding, actin binding, GO:0007283, spermatogenesis, 10 26 14 15 38 26 13 26 12 ENSG00000184363 chr11 392614 404908 + PKP3 protein_coding This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]. 11187 GO:1990124, GO:0030057, GO:0030054, GO:0005912, GO:0005912, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005654, GO:0005634, GO:0001533, messenger ribonucleoprotein complex, desmosome, cell junction, adherens junction, adherens junction, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleoplasm, nucleus, cornified envelope, GO:0098641, GO:0050839, GO:0045296, GO:0045294, GO:0045182, GO:0019899, GO:0005515, GO:0003723, cadherin binding involved in cell-cell adhesion, cell adhesion molecule binding, cadherin binding, alpha-catenin binding, translation regulator activity, enzyme binding, protein binding, RNA binding, GO:1902373, GO:0098609, GO:0072659, GO:0070268, GO:0031424, GO:0010628, GO:0007043, GO:0006417, GO:0002159, negative regulation of mRNA catabolic process, cell-cell adhesion, protein localization to plasma membrane, cornification, keratinization, positive regulation of gene expression, cell-cell junction assembly, regulation of translation, desmosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000184368 chrX 20006713 20116917 - MAP7D2 protein_coding 256714 GO:0015630, microtubule cytoskeleton, GO:0000226, microtubule cytoskeleton organization, 0 2 0 0 1 0 0 1 0 ENSG00000184371 chr1 109910242 109930992 + CSF1 protein_coding The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 1435 GO:1990682, GO:0048471, GO:0016604, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005788, GO:0005615, GO:0005615, GO:0005576, CSF1-CSF1R complex, perinuclear region of cytoplasm, nuclear body, integral component of membrane, membrane, plasma membrane, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, GO:0042803, GO:0042802, GO:0008083, GO:0005515, GO:0005157, GO:0005157, GO:0005125, GO:0005125, protein homodimerization activity, identical protein binding, growth factor activity, protein binding, macrophage colony-stimulating factor receptor binding, macrophage colony-stimulating factor receptor binding, cytokine activity, cytokine activity, GO:1904141, GO:1902228, GO:1901215, GO:0061518, GO:0060763, GO:0060611, GO:0060444, GO:0048873, GO:0046579, GO:0045860, GO:0045672, GO:0045657, GO:0045651, GO:0045651, GO:0045087, GO:0044267, GO:0043687, GO:0042488, GO:0042117, GO:0040018, GO:0038145, GO:0032946, GO:0032270, GO:0030335, GO:0030316, GO:0030316, GO:0030278, GO:0030225, GO:0019221, GO:0010759, GO:0010744, GO:0010743, GO:0010628, GO:0008284, GO:0008284, GO:0007169, GO:0006954, GO:0003006, GO:0002931, GO:0002158, GO:0001954, positive regulation of microglial cell migration, positive regulation of macrophage colony-stimulating factor signaling pathway, negative regulation of neuron death, microglial cell proliferation, mammary duct terminal end bud growth, mammary gland fat development, branching involved in mammary gland duct morphogenesis, homeostasis of number of cells within a tissue, positive regulation of Ras protein signal transduction, positive regulation of protein kinase activity, positive regulation of osteoclast differentiation, positive regulation of monocyte differentiation, positive regulation of macrophage differentiation, positive regulation of macrophage differentiation, innate immune response, cellular protein metabolic process, post-translational protein modification, positive regulation of odontogenesis of dentin-containing tooth, monocyte activation, positive regulation of multicellular organism growth, macrophage colony-stimulating factor signaling pathway, positive regulation of mononuclear cell proliferation, positive regulation of cellular protein metabolic process, positive regulation of cell migration, osteoclast differentiation, osteoclast differentiation, regulation of ossification, macrophage differentiation, cytokine-mediated signaling pathway, positive regulation of macrophage chemotaxis, positive regulation of macrophage derived foam cell differentiation, regulation of macrophage derived foam cell differentiation, positive regulation of gene expression, positive regulation of cell population proliferation, positive regulation of cell population proliferation, transmembrane receptor protein tyrosine kinase signaling pathway, inflammatory response, developmental process involved in reproduction, response to ischemia, osteoclast proliferation, positive regulation of cell-matrix adhesion, 598 1115 1468 351 485 582 464 362 491 ENSG00000184374 chr8 118995452 119106582 + COLEC10 protein_coding This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]. 10584 GO:0005794, GO:0005737, GO:0005615, GO:0005615, GO:0005581, GO:0005576, Golgi apparatus, cytoplasm, extracellular space, extracellular space, collagen trimer, extracellular region, GO:0042056, GO:0005537, chemoattractant activity, mannose binding, GO:1904888, GO:0050918, GO:0006956, GO:0001867, cranial skeletal system development, positive chemotaxis, complement activation, complement activation, lectin pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184378 chr3 169766921 169769895 - ACTRT3 protein_coding 84517 GO:0005856, GO:0005737, GO:0001673, cytoskeleton, cytoplasm, male germ cell nucleus, 0 3 2 3 1 8 6 0 3 ENSG00000184381 chr22 38111495 38205690 - PLA2G6 protein_coding The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]. 8398 GO:0034451, GO:0031143, GO:0016021, GO:0005886, GO:0005829, GO:0005829, GO:0005739, GO:0005615, centriolar satellite, pseudopodium, integral component of membrane, plasma membrane, cytosol, cytosol, mitochondrion, extracellular space, GO:0102991, GO:0102568, GO:0102567, GO:0102545, GO:0047499, GO:0043008, GO:0042802, GO:0019901, GO:0017171, GO:0016787, GO:0016290, GO:0005516, GO:0005515, GO:0004623, GO:0004622, GO:0003847, myristoyl-CoA hydrolase activity, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), phosphatidyl phospholipase B activity, calcium-independent phospholipase A2 activity, ATP-dependent protein binding, identical protein binding, protein kinase binding, serine hydrolase activity, hydrolase activity, palmitoyl-CoA hydrolase activity, calmodulin binding, protein binding, phospholipase A2 activity, lysophospholipase activity, 1-alkyl-2-acetylglycerophosphocholine esterase activity, GO:2000304, GO:1901339, GO:0097755, GO:0090238, GO:0090200, GO:0090037, GO:0060135, GO:0051967, GO:0046473, GO:0046469, GO:0046338, GO:0045921, GO:0038096, GO:0036152, GO:0036151, GO:0035965, GO:0035774, GO:0034976, GO:0034638, GO:0032049, GO:0019731, GO:0014832, GO:0007613, GO:0007204, GO:0006935, GO:0001934, positive regulation of ceramide biosynthetic process, regulation of store-operated calcium channel activity, positive regulation of blood vessel diameter, positive regulation of arachidonic acid secretion, positive regulation of release of cytochrome c from mitochondria, positive regulation of protein kinase C signaling, maternal process involved in female pregnancy, negative regulation of synaptic transmission, glutamatergic, phosphatidic acid metabolic process, platelet activating factor metabolic process, phosphatidylethanolamine catabolic process, positive regulation of exocytosis, Fc-gamma receptor signaling pathway involved in phagocytosis, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, cardiolipin acyl-chain remodeling, positive regulation of insulin secretion involved in cellular response to glucose stimulus, response to endoplasmic reticulum stress, phosphatidylcholine catabolic process, cardiolipin biosynthetic process, antibacterial humoral response, urinary bladder smooth muscle contraction, memory, positive regulation of cytosolic calcium ion concentration, chemotaxis, positive regulation of protein phosphorylation, 142 181 230 486 726 593 597 430 578 ENSG00000184384 chr11 95976598 96343180 - MAML2 protein_coding The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]. 84441 GO:0016607, GO:0005654, GO:0005654, GO:0005634, nuclear speck, nucleoplasm, nucleoplasm, nucleus, GO:0003713, GO:0003713, transcription coactivator activity, transcription coactivator activity, GO:0045944, GO:0045747, GO:0007221, GO:0007221, GO:0007219, GO:0007219, GO:0006367, positive regulation of transcription by RNA polymerase II, positive regulation of Notch signaling pathway, positive regulation of transcription of Notch receptor target, positive regulation of transcription of Notch receptor target, Notch signaling pathway, Notch signaling pathway, transcription initiation from RNA polymerase II promoter, 530 748 885 322 530 523 382 475 480 ENSG00000184385 chr21 42102134 42108534 - UMODL1-AS1 sense_overlapping 150147 0 0 0 0 0 0 0 0 0 ENSG00000184388 chrX 73003517 73005713 + PABPC1L2B protein_coding 645974 GO:0070062, extracellular exosome, GO:0003723, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000184389 chr1 33306766 33321098 - A3GALT2 protein_coding 127550 GO:0032580, GO:0031982, GO:0016021, GO:0005794, Golgi cisterna membrane, vesicle, integral component of membrane, Golgi apparatus, GO:0047276, GO:0046872, GO:0016757, GO:0001962, N-acetyllactosaminide 3-alpha-galactosyltransferase activity, metal ion binding, transferase activity, transferring glycosyl groups, alpha-1,3-galactosyltransferase activity, GO:0071287, GO:0030259, GO:0006688, GO:0005975, cellular response to manganese ion, lipid glycosylation, glycosphingolipid biosynthetic process, carbohydrate metabolic process, 12 23 18 20 39 50 34 15 40 ENSG00000184394 chr14 20138820 20145471 + OR4N5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390437 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184402 chr20 62143795 62182484 + SS18L1 protein_coding This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. 26039 GO:0071565, GO:0016604, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000779, GO:0000777, GO:0000776, nBAF complex, nuclear body, cytosol, nucleoplasm, nucleus, nucleus, condensed chromosome, centromeric region, condensed chromosome kinetochore, kinetochore, GO:0005515, GO:0003713, protein binding, transcription coactivator activity, GO:0050775, GO:0045944, GO:0045893, GO:0016358, GO:0006325, positive regulation of dendrite morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, dendrite development, chromatin organization, 516 406 672 775 581 848 806 387 473 ENSG00000184408 chr7 120273668 120750331 + KCND2 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]. 3751 GO:0045211, GO:0045211, GO:0044853, GO:0043204, GO:0043197, GO:0043197, GO:0043197, GO:0032809, GO:0031226, GO:0016021, GO:0014069, GO:0008076, GO:0008076, GO:0005887, GO:0005886, postsynaptic membrane, postsynaptic membrane, plasma membrane raft, perikaryon, dendritic spine, dendritic spine, dendritic spine, neuronal cell body membrane, intrinsic component of plasma membrane, integral component of membrane, postsynaptic density, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:1905030, GO:0046872, GO:0005515, GO:0005250, GO:0005250, GO:0005250, GO:0005249, GO:0005249, GO:0005249, GO:0005249, voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential, metal ion binding, protein binding, A-type (transient outward) potassium channel activity, A-type (transient outward) potassium channel activity, A-type (transient outward) potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0071456, GO:0061337, GO:0060078, GO:0051260, GO:0034765, GO:0007268, GO:0001508, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to hypoxia, cardiac conduction, regulation of postsynaptic membrane potential, protein homooligomerization, regulation of ion transmembrane transport, chemical synaptic transmission, action potential, 0 0 0 0 0 0 0 0 0 ENSG00000184414 chr7 100570131 100571136 + IRS3P processed_pseudogene 3 0 3 1 4 2 2 4 2 ENSG00000184423 chr3 1595777 1596245 - RPL23AP38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184428 chr8 143304384 143359979 - TOP1MT protein_coding This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 116447 GO:0042645, GO:0042645, GO:0005739, GO:0005694, GO:0005654, mitochondrial nucleoid, mitochondrial nucleoid, mitochondrion, chromosome, nucleoplasm, GO:0003917, GO:0003677, DNA topoisomerase type I (single strand cut, ATP-independent) activity, DNA binding, GO:0006265, GO:0006260, DNA topological change, DNA replication, 12 15 24 47 24 73 35 14 32 ENSG00000184432 chr3 139355600 139389732 - COPB2 protein_coding The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]. 9276 GO:0030133, GO:0030126, GO:0030126, GO:0005829, GO:0005789, GO:0000139, transport vesicle, COPI vesicle coat, COPI vesicle coat, cytosol, endoplasmic reticulum membrane, Golgi membrane, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:1901998, GO:0006891, GO:0006891, GO:0006890, GO:0006890, GO:0006888, GO:0006888, GO:0006886, toxin transport, intra-Golgi vesicle-mediated transport, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 1072 953 1426 425 492 511 400 376 374 ENSG00000184434 chr9 26993136 27005693 - LRRC19 protein_coding 64922 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0038023, signaling receptor activity, GO:1901224, GO:1901224, GO:0050727, GO:0048874, GO:0038008, GO:0032637, GO:0002224, GO:0001817, positive regulation of NIK/NF-kappaB signaling, positive regulation of NIK/NF-kappaB signaling, regulation of inflammatory response, host-mediated regulation of intestinal microbiota composition, TRAF-mediated signal transduction, interleukin-8 production, toll-like receptor signaling pathway, regulation of cytokine production, 0 0 1 0 0 3 0 0 0 ENSG00000184436 chr22 20999104 21002196 - THAP7 protein_coding 80764 GO:0043231, GO:0031965, GO:0016607, GO:0005694, GO:0005654, GO:0005634, intracellular membrane-bounded organelle, nuclear membrane, nuclear speck, chromosome, nucleoplasm, nucleus, GO:0140296, GO:0106153, GO:0070742, GO:0070577, GO:0047485, GO:0046872, GO:0042826, GO:0042802, GO:0035064, GO:0031493, GO:0005515, GO:0003677, GO:0001226, general transcription initiation factor binding, phosphorylated histone binding, C2H2 zinc finger domain binding, lysine-acetylated histone binding, protein N-terminus binding, metal ion binding, histone deacetylase binding, identical protein binding, methylated histone binding, nucleosomal histone binding, protein binding, DNA binding, RNA polymerase II transcription corepressor binding, GO:0045892, GO:0035067, GO:0006355, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of histone acetylation, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 21 26 34 144 71 69 179 199 101 ENSG00000184441 chr21 44331234 44335851 + AP001062.1 antisense 28 47 41 62 45 95 53 33 41 ENSG00000184445 chr12 122527246 122626396 + KNTC1 protein_coding This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008]. 9735 GO:1990423, GO:0015629, GO:0005886, GO:0005829, GO:0005829, GO:0005828, GO:0005634, GO:0000922, GO:0000777, RZZ complex, actin cytoskeleton, plasma membrane, cytosol, cytosol, kinetochore microtubule, nucleus, spindle pole, condensed chromosome kinetochore, GO:0005515, protein binding, GO:0065003, GO:0051301, GO:0007096, GO:0007093, protein-containing complex assembly, cell division, regulation of exit from mitosis, mitotic cell cycle checkpoint, 112 120 156 120 144 215 91 92 152 ENSG00000184451 chr17 42678889 42683917 - CCR10 protein_coding Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008]. 2826 GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005783, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:0019957, GO:0016493, GO:0005515, GO:0004930, C-C chemokine binding, C-C chemokine receptor activity, protein binding, G protein-coupled receptor activity, GO:0070098, GO:0060326, GO:0019722, GO:0007204, GO:0007186, GO:0006955, chemokine-mediated signaling pathway, cell chemotaxis, calcium-mediated signaling, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, immune response, 6 1 6 8 20 10 7 7 9 ENSG00000184454 chr1 24556111 24609328 + NCMAP protein_coding 400746 GO:0043220, GO:0043220, GO:0033270, GO:0033270, GO:0005887, Schmidt-Lanterman incisure, Schmidt-Lanterman incisure, paranode region of axon, paranode region of axon, integral component of plasma membrane, GO:0019911, GO:0019911, structural constituent of myelin sheath, structural constituent of myelin sheath, GO:0032290, GO:0032290, GO:0031643, peripheral nervous system myelin formation, peripheral nervous system myelin formation, positive regulation of myelination, 0 0 0 1 0 0 0 0 0 ENSG00000184459 chr22 32413847 32464484 - BPIFC protein_coding 254240 GO:0005615, extracellular space, GO:0005543, GO:0001530, phospholipid binding, lipopolysaccharide binding, 0 0 0 0 0 0 0 0 0 ENSG00000184465 chr6 169457212 169702067 - WDR27 protein_coding This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]. 253769 GO:0005654, nucleoplasm, GO:0005515, protein binding, 26 18 36 60 16 47 44 21 34 ENSG00000184470 chr22 19875517 19941992 - TXNRD2 protein_coding The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017]. 10587 GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005737, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0050660, GO:0005515, GO:0004791, GO:0004791, flavin adenine dinucleotide binding, protein binding, thioredoxin-disulfide reductase activity, thioredoxin-disulfide reductase activity, GO:0098869, GO:0055114, GO:0045454, GO:0045454, GO:0034599, GO:0000305, cellular oxidant detoxification, oxidation-reduction process, cell redox homeostasis, cell redox homeostasis, cellular response to oxidative stress, response to oxygen radical, 16 27 35 49 38 70 29 32 59 ENSG00000184471 chr16 1090005 1096244 - C1QTNF8 protein_coding 390664 GO:0005581, GO:0005576, collagen trimer, extracellular region, GO:0005515, protein binding, GO:2000147, positive regulation of cell motility, 0 0 0 0 0 0 0 0 0 ENSG00000184478 chr11 5938751 5951347 + OR56A3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390083 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184481 chrX 71096197 71103535 + FOXO4 protein_coding This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]. 4303 GO:0016607, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, nuclear speck, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:1990841, GO:1990837, GO:0043565, GO:0043565, GO:0042802, GO:0019899, GO:0008134, GO:0008013, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, sequence-specific DNA binding, identical protein binding, enzyme binding, transcription factor binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990785, GO:0071158, GO:0070317, GO:0051151, GO:0048863, GO:0045944, GO:0031667, GO:0016579, GO:0016525, GO:0014911, GO:0008286, GO:0008285, GO:0007568, GO:0007517, GO:0007095, GO:0007050, GO:0006357, GO:0006355, response to water-immersion restraint stress, positive regulation of cell cycle arrest, negative regulation of G0 to G1 transition, negative regulation of smooth muscle cell differentiation, stem cell differentiation, positive regulation of transcription by RNA polymerase II, response to nutrient levels, protein deubiquitination, negative regulation of angiogenesis, positive regulation of smooth muscle cell migration, insulin receptor signaling pathway, negative regulation of cell population proliferation, aging, muscle organ development, mitotic G2 DNA damage checkpoint, cell cycle arrest, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1184 1318 1577 271 531 446 356 536 437 ENSG00000184486 chr6 98834592 98839470 + POU3F2 protein_coding This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]. 5454 GO:0005667, GO:0005654, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0042802, GO:0005515, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, identical protein binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071310, GO:0050770, GO:0048666, GO:0048665, GO:0048663, GO:0045944, GO:0040018, GO:0030182, GO:0022011, GO:0021985, GO:0021979, GO:0021869, GO:0021799, GO:0014002, GO:0010629, GO:0008544, GO:0008284, GO:0007399, GO:0006357, GO:0006357, cellular response to organic substance, regulation of axonogenesis, neuron development, neuron fate specification, neuron fate commitment, positive regulation of transcription by RNA polymerase II, positive regulation of multicellular organism growth, neuron differentiation, myelination in peripheral nervous system, neurohypophysis development, hypothalamus cell differentiation, forebrain ventricular zone progenitor cell division, cerebral cortex radially oriented cell migration, astrocyte development, negative regulation of gene expression, epidermis development, positive regulation of cell population proliferation, nervous system development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 1 0 0 0 0 0 ENSG00000184489 chr8 141391993 141432454 + PTP4A3 protein_coding This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 11156 GO:0005886, GO:0005769, GO:0005737, GO:0005737, GO:0005634, GO:0005634, plasma membrane, early endosome, cytoplasm, cytoplasm, nucleus, nucleus, GO:0008138, GO:0005515, GO:0004727, GO:0004725, protein tyrosine/serine/threonine phosphatase activity, protein binding, prenylated protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1990830, GO:1904951, GO:1901224, GO:1900746, GO:0043542, GO:0043542, GO:0043117, GO:0035335, GO:0007219, GO:0006355, cellular response to leukemia inhibitory factor, positive regulation of establishment of protein localization, positive regulation of NIK/NF-kappaB signaling, regulation of vascular endothelial growth factor signaling pathway, endothelial cell migration, endothelial cell migration, positive regulation of vascular permeability, peptidyl-tyrosine dephosphorylation, Notch signaling pathway, regulation of transcription, DNA-templated, 7 0 0 0 0 0 0 0 4 ENSG00000184492 chr2 113498665 113501155 + FOXD4L1 protein_coding This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found. [provided by RefSeq, Jul 2008]. 200350 GO:0000785, GO:0000785, chromatin, chromatin, GO:0043565, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 1 0 1 0 6 0 2 0 4 ENSG00000184497 chr13 113759240 113816995 + TMEM255B protein_coding 348013 GO:0016021, integral component of membrane, GO:0005515, protein binding, 4 2 13 54 10 22 25 3 25 ENSG00000184500 chr3 93873033 93980003 - PROS1 protein_coding This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]. 5627 GO:0072562, GO:0070062, GO:0031093, GO:0005886, GO:0005796, GO:0005789, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0000139, blood microparticle, extracellular exosome, platelet alpha granule lumen, plasma membrane, Golgi lumen, endoplasmic reticulum membrane, extracellular space, extracellular space, extracellular region, extracellular region, Golgi membrane, GO:0005515, GO:0005509, GO:0004866, protein binding, calcium ion binding, endopeptidase inhibitor activity, GO:0050900, GO:0042730, GO:0030449, GO:0010951, GO:0007596, GO:0006888, GO:0002576, leukocyte migration, fibrinolysis, regulation of complement activation, negative regulation of endopeptidase activity, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, platelet degranulation, 4 6 2 13 0 0 5 2 0 ENSG00000184502 chr17 41712326 41715969 + GAST protein_coding Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. [provided by RefSeq, Jul 2008]. 2520 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005179, protein binding, hormone activity, GO:0032094, GO:0007186, GO:0007186, GO:0007165, response to food, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000184507 chr15 34343315 34357737 + NUTM1 protein_coding 256646 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, 0 2 0 6 0 0 0 0 0 ENSG00000184508 chr15 90929964 90935196 - HDDC3 protein_coding 374659 GO:0046872, GO:0008893, GO:0005515, metal ion binding, guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity, protein binding, 19 23 24 11 22 29 11 22 26 ENSG00000184515 chrX 102153708 102156057 - BEX5 protein_coding 340542 GO:0005737, cytoplasm, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0007165, signal transduction, 5 3 3 4 1 6 7 3 6 ENSG00000184517 chr16 75148492 75172236 + ZFP1 protein_coding This gene belongs to the zinc finger protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fingers, and are involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 162239 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 9 13 22 29 2 25 19 13 12 ENSG00000184523 chr9 62838824 62844276 + PTGER4P2 transcribed_processed_pseudogene 3 0 1 0 0 0 1 0 0 ENSG00000184524 chr11 787104 790123 - CEND1 protein_coding The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]. 51286 GO:0031982, GO:0016021, GO:0005739, vesicle, integral component of membrane, mitochondrion, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0021941, GO:0021933, GO:0021702, GO:0021686, GO:0008150, GO:0007628, negative regulation of cerebellar granule cell precursor proliferation, radial glia guided migration of cerebellar granule cell, cerebellar Purkinje cell differentiation, cerebellar granular layer maturation, biological_process, adult walking behavior, 1 0 0 2 0 0 0 2 1 ENSG00000184530 chr6 127519455 127591817 + C6orf58 protein_coding 352999 GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, GO:0005515, protein binding, GO:0007275, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000184544 chr17 9771434 9791297 - DHRS7C protein_coding 201140 GO:0033017, GO:0014801, GO:0005576, sarcoplasmic reticulum membrane, longitudinal sarcoplasmic reticulum, extracellular region, GO:0004745, retinol dehydrogenase activity, GO:0055114, GO:0010880, oxidation-reduction process, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, 0 0 0 0 0 0 0 0 0 ENSG00000184545 chr11 1554044 1571920 - DUSP8 protein_coding The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008]. 1850 GO:0005829, GO:0005737, GO:0005634, cytosol, cytoplasm, nucleus, GO:0106307, GO:0106306, GO:0051019, GO:0017017, GO:0016791, GO:0008330, GO:0004725, GO:0004721, protein threonine phosphatase activity, protein serine phosphatase activity, mitogen-activated protein kinase binding, MAP kinase tyrosine/serine/threonine phosphatase activity, phosphatase activity, protein tyrosine/threonine phosphatase activity, protein tyrosine phosphatase activity, phosphoprotein phosphatase activity, GO:0035970, GO:0035335, GO:0016311, GO:0006470, GO:0000188, GO:0000188, peptidyl-threonine dephosphorylation, peptidyl-tyrosine dephosphorylation, dephosphorylation, protein dephosphorylation, inactivation of MAPK activity, inactivation of MAPK activity, 14 0 14 12 4 48 39 3 6 ENSG00000184557 chr17 78356778 78360077 - SOCS3 protein_coding This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008]. 9021 GO:0005942, GO:0005829, phosphatidylinositol 3-kinase complex, cytosol, GO:0046935, GO:0005515, GO:0004860, GO:0001784, 1-phosphatidylinositol-3-kinase regulator activity, protein binding, protein kinase inhibitor activity, phosphotyrosine residue binding, GO:1990830, GO:0070102, GO:0060707, GO:0060674, GO:0060670, GO:0060334, GO:0050728, GO:0046854, GO:0046627, GO:0046426, GO:0045597, GO:0043687, GO:0043551, GO:0043066, GO:0042532, GO:0042531, GO:0040008, GO:0035556, GO:0019221, GO:0016567, GO:0007259, GO:0006469, cellular response to leukemia inhibitory factor, interleukin-6-mediated signaling pathway, trophoblast giant cell differentiation, placenta blood vessel development, branching involved in labyrinthine layer morphogenesis, regulation of interferon-gamma-mediated signaling pathway, negative regulation of inflammatory response, phosphatidylinositol phosphorylation, negative regulation of insulin receptor signaling pathway, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of cell differentiation, post-translational protein modification, regulation of phosphatidylinositol 3-kinase activity, negative regulation of apoptotic process, negative regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, regulation of growth, intracellular signal transduction, cytokine-mediated signaling pathway, protein ubiquitination, receptor signaling pathway via JAK-STAT, negative regulation of protein kinase activity, 306 438 459 6222 6737 9085 8477 7534 9315 ENSG00000184560 chr17 7425615 7427568 + SPEM2 protein_coding 201243 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000184564 chr13 85792787 85806683 - SLITRK6 protein_coding This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]. 84189 GO:0009986, GO:0005887, GO:0005887, GO:0005886, GO:0005886, cell surface, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1905606, GO:0090102, GO:0060384, GO:0060007, GO:0051965, GO:0035264, GO:0031223, GO:0021562, GO:0008344, GO:0007605, GO:0007601, GO:0007416, GO:0007409, GO:0002093, GO:0002088, GO:0001964, regulation of presynapse assembly, cochlea development, innervation, linear vestibuloocular reflex, positive regulation of synapse assembly, multicellular organism growth, auditory behavior, vestibulocochlear nerve development, adult locomotory behavior, sensory perception of sound, visual perception, synapse assembly, axonogenesis, auditory receptor cell morphogenesis, lens development in camera-type eye, startle response, 0 0 0 0 0 0 0 0 0 ENSG00000184566 chr11 33880643 33881800 + AC132216.1 antisense 1 0 0 0 0 0 0 1 0 ENSG00000184571 chr22 24719034 24774720 - PIWIL3 protein_coding This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 440822 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0003723, RNA binding, GO:0051321, GO:0031047, GO:0030154, GO:0007283, GO:0007275, GO:0006417, meiotic cell cycle, gene silencing by RNA, cell differentiation, spermatogenesis, multicellular organism development, regulation of translation, 0 0 0 0 0 0 0 0 0 ENSG00000184574 chr12 6618835 6636447 - LPAR5 protein_coding This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008]. 57121 GO:0016021, GO:0005886, GO:0005575, integral component of membrane, plasma membrane, cellular_component, GO:0004930, GO:0003674, G protein-coupled receptor activity, molecular_function, GO:0048266, GO:0032793, GO:0008150, GO:0007186, behavioral response to pain, positive regulation of CREB transcription factor activity, biological_process, G protein-coupled receptor signaling pathway, 9 8 5 10 6 10 23 6 21 ENSG00000184575 chr12 64404350 64451127 + XPOT protein_coding This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008]. 11260 GO:0016363, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005643, nuclear matrix, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nuclear pore, GO:0031267, GO:0005515, GO:0000049, GO:0000049, small GTPase binding, protein binding, tRNA binding, tRNA binding, GO:0071528, GO:0006409, GO:0006409, tRNA re-export from nucleus, tRNA export from nucleus, tRNA export from nucleus, 100 82 143 170 105 220 146 85 155 ENSG00000184584 chr5 139475534 139482935 - TMEM173 protein_coding This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 340061 GO:1990701, GO:0048471, GO:0030667, GO:0030659, GO:0030176, GO:0005886, GO:0005829, GO:0005794, GO:0005789, GO:0005789, GO:0005789, GO:0005777, GO:0005776, GO:0005776, GO:0005768, GO:0005741, GO:0005654, GO:0000421, integral component of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane, perinuclear region of cytoplasm, secretory granule membrane, cytoplasmic vesicle membrane, integral component of endoplasmic reticulum membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, peroxisome, autophagosome, autophagosome, endosome, mitochondrial outer membrane, nucleoplasm, autophagosome membrane, GO:0061507, GO:0061507, GO:0061507, GO:0042803, GO:0042802, GO:0035438, GO:0035438, GO:0031625, GO:0019901, GO:0019901, GO:0008134, GO:0005515, cyclic-GMP-AMP binding, cyclic-GMP-AMP binding, cyclic-GMP-AMP binding, protein homodimerization activity, identical protein binding, cyclic-di-GMP binding, cyclic-di-GMP binding, ubiquitin protein ligase binding, protein kinase binding, protein kinase binding, transcription factor binding, protein binding, GO:0071407, GO:0071360, GO:0061709, GO:0061709, GO:0051607, GO:0051607, GO:0051259, GO:0051091, GO:0050727, GO:0045944, GO:0045087, GO:0045087, GO:0045087, GO:0043312, GO:0035458, GO:0032608, GO:0032608, GO:0032481, GO:0032481, GO:0032481, GO:0032479, GO:0032092, GO:0016239, GO:0016239, GO:0016032, GO:0002230, GO:0002218, GO:0002218, GO:0000045, GO:0000045, cellular response to organic cyclic compound, cellular response to exogenous dsRNA, reticulophagy, reticulophagy, defense response to virus, defense response to virus, protein complex oligomerization, positive regulation of DNA-binding transcription factor activity, regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, innate immune response, innate immune response, innate immune response, neutrophil degranulation, cellular response to interferon-beta, interferon-beta production, interferon-beta production, positive regulation of type I interferon production, positive regulation of type I interferon production, positive regulation of type I interferon production, regulation of type I interferon production, positive regulation of protein binding, positive regulation of macroautophagy, positive regulation of macroautophagy, viral process, positive regulation of defense response to virus by host, activation of innate immune response, activation of innate immune response, autophagosome assembly, autophagosome assembly, 58 73 83 143 97 156 133 105 90 ENSG00000184588 chr1 65792514 66374579 + PDE4B protein_coding This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. 5142 GO:0060076, GO:0048471, GO:0043197, GO:0030018, GO:0014069, GO:0008021, GO:0005891, GO:0005829, GO:0005829, GO:0005813, GO:0005634, GO:0000930, excitatory synapse, perinuclear region of cytoplasm, dendritic spine, Z disc, postsynaptic density, synaptic vesicle, voltage-gated calcium channel complex, cytosol, cytosol, centrosome, nucleus, gamma-tubulin complex, GO:0046872, GO:0044325, GO:0044325, GO:0043015, GO:0030552, GO:0004115, GO:0004115, GO:0004115, GO:0004115, GO:0004114, metal ion binding, ion channel binding, ion channel binding, gamma-tubulin binding, cAMP binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:1901898, GO:1901841, GO:0086004, GO:0071872, GO:0071222, GO:0050900, GO:0050852, GO:0035690, GO:0032743, GO:0032729, GO:0030593, GO:0007186, GO:0007165, GO:0006198, GO:0001780, negative regulation of relaxation of cardiac muscle, regulation of high voltage-gated calcium channel activity, regulation of cardiac muscle cell contraction, cellular response to epinephrine stimulus, cellular response to lipopolysaccharide, leukocyte migration, T cell receptor signaling pathway, cellular response to drug, positive regulation of interleukin-2 production, positive regulation of interferon-gamma production, neutrophil chemotaxis, G protein-coupled receptor signaling pathway, signal transduction, cAMP catabolic process, neutrophil homeostasis, 3302 3332 6132 1353 3133 2758 1472 2135 2231 ENSG00000184599 chr1 112720419 112727235 + FAM19A3 protein_coding This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 284467 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0048018, receptor ligand activity, GO:1903980, GO:1903980, GO:1903979, GO:1903979, GO:1902692, GO:0014016, GO:0007165, positive regulation of microglial cell activation, positive regulation of microglial cell activation, negative regulation of microglial cell activation, negative regulation of microglial cell activation, regulation of neuroblast proliferation, neuroblast differentiation, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000184601 chr14 104579684 104590515 + C14orf180 protein_coding 400258 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000184602 chr16 11668414 11679159 + SNN protein_coding 8303 GO:0016021, GO:0016021, GO:0005741, GO:0005737, integral component of membrane, integral component of membrane, mitochondrial outer membrane, cytoplasm, GO:0046872, metal ion binding, GO:0009636, response to toxic substance, 5641 5026 11957 801 1339 1761 1233 1129 1901 ENSG00000184608 chr8 11368402 11438658 + FAM167A-AS1 antisense 83656 0 0 0 0 0 0 0 0 0 ENSG00000184611 chr2 162371407 162838730 - KCNH7 protein_coding Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 90134 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005249, voltage-gated potassium channel activity, GO:0071805, GO:0042391, GO:0034765, potassium ion transmembrane transport, regulation of membrane potential, regulation of ion transmembrane transport, 41 49 66 21 61 82 59 40 51 ENSG00000184612 chr6 17530899 17531652 - RPL7P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184613 chr12 44508275 44921848 - NELL2 protein_coding The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]. 4753 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0008201, GO:0005515, GO:0005509, GO:0005080, heparin binding, protein binding, calcium ion binding, protein kinase C binding, GO:0070050, neuron cellular homeostasis, 54 20 108 191 52 199 124 64 184 ENSG00000184616 chr7 74906673 74913256 - SPDYE12P unprocessed_pseudogene 0 0 0 1 0 1 0 0 0 ENSG00000184617 chr20 46484461 46492640 + ZNF840P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184619 chr17 8356902 8376711 - KRBA2 protein_coding 124751 GO:0005515, GO:0003676, protein binding, nucleic acid binding, GO:0015074, GO:0006355, DNA integration, regulation of transcription, DNA-templated, 3 3 2 3 5 11 2 3 2 ENSG00000184624 chr22 15326037 15343065 - ZNF72P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184634 chrX 71118556 71142454 + MED12 protein_coding The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]. 9968 GO:0016592, GO:0016592, GO:0016020, GO:0005654, GO:0005634, mediator complex, mediator complex, membrane, nucleoplasm, nucleus, GO:0046966, GO:0042809, GO:0030374, GO:0019904, GO:0008022, GO:0008013, GO:0005515, GO:0003713, GO:0003713, GO:0003712, GO:0003682, GO:0000978, thyroid hormone receptor binding, vitamin D receptor binding, nuclear receptor coactivator activity, protein domain specific binding, protein C-terminus binding, beta-catenin binding, protein binding, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, chromatin binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990403, GO:0090245, GO:0060261, GO:0060071, GO:0060070, GO:0048702, GO:0045944, GO:0045893, GO:0036342, GO:0021510, GO:0019827, GO:0014044, GO:0014003, GO:0007507, GO:0007492, GO:0006367, GO:0006357, GO:0001843, embryonic brain development, axis elongation involved in somitogenesis, positive regulation of transcription initiation from RNA polymerase II promoter, Wnt signaling pathway, planar cell polarity pathway, canonical Wnt signaling pathway, embryonic neurocranium morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, post-anal tail morphogenesis, spinal cord development, stem cell population maintenance, Schwann cell development, oligodendrocyte development, heart development, endoderm development, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, neural tube closure, 1399 1446 1679 836 1044 969 893 823 783 ENSG00000184635 chr19 19900913 19963464 + ZNF93 protein_coding 81931 GO:0005634, nucleus, GO:0008270, GO:0003700, GO:0003700, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070895, GO:0045892, GO:0006357, negative regulation of transposon integration, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 35 36 32 20 44 32 49 43 14 ENSG00000184640 chr17 77280569 77500596 + SEPT9 protein_coding This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]. 10801 GO:0097730, GO:0048471, GO:0032153, GO:0031105, GO:0031105, GO:0031105, GO:0015630, GO:0015629, GO:0005940, GO:0005930, GO:0005874, GO:0005737, GO:0001725, non-motile cilium, perinuclear region of cytoplasm, cell division site, septin complex, septin complex, septin complex, microtubule cytoskeleton, actin cytoskeleton, septin ring, axoneme, microtubule, cytoplasm, stress fiber, GO:0060090, GO:0045296, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, cadherin binding, GTP binding, protein binding, GTPase activity, GO:1902857, GO:0061640, GO:0034613, positive regulation of non-motile cilium assembly, cytoskeleton-dependent cytokinesis, cellular protein localization, 1211 1644 2304 1560 1526 2167 1410 1219 1752 ENSG00000184647 chr8 10525546 10554166 + PRSS55 protein_coding This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]. 203074 GO:0031225, GO:0005886, GO:0005829, GO:0001669, anchored component of membrane, plasma membrane, cytosol, acrosomal vesicle, GO:0004252, serine-type endopeptidase activity, GO:0030317, GO:0007339, GO:0006508, flagellated sperm motility, binding of sperm to zona pellucida, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000184650 chr17 8339864 8346048 + ODF4 protein_coding This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 146852 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0030154, GO:0007283, GO:0007275, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000184659 chr9 65736555 65738784 + FOXD4L4 protein_coding 349334 GO:0000785, GO:0000785, chromatin, chromatin, GO:0043565, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 3 1 0 0 1 0 ENSG00000184661 chr8 25458997 25507920 + CDCA2 protein_coding This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 157313 GO:0005829, GO:0005694, GO:0005654, cytosol, chromosome, nucleoplasm, GO:0051301, GO:0035307, GO:0007059, GO:0007049, cell division, positive regulation of protein dephosphorylation, chromosome segregation, cell cycle, 1 0 3 1 0 0 2 0 0 ENSG00000184669 chr11 17013998 17053024 + OR7E14P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184672 chr8 84182787 84921844 + RALYL protein_coding 138046 GO:0005634, nucleus, GO:0042802, GO:0005515, GO:0003723, GO:0003723, identical protein binding, protein binding, RNA binding, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000184675 chrX 64185117 64205744 - AMER1 protein_coding The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]. 139285 GO:0043231, GO:0016604, GO:0005886, GO:0005886, GO:0005829, intracellular membrane-bounded organelle, nuclear body, plasma membrane, plasma membrane, cytosol, GO:1904713, GO:0008013, GO:0008013, GO:0008013, GO:0005546, GO:0005546, GO:0005546, GO:0005515, beta-catenin destruction complex binding, beta-catenin binding, beta-catenin binding, beta-catenin binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:1904886, GO:1904885, GO:1903364, GO:0090263, GO:0090090, GO:0090090, GO:0072161, GO:0060828, GO:0060828, GO:0060612, GO:0060348, GO:0031398, GO:0016055, beta-catenin destruction complex disassembly, beta-catenin destruction complex assembly, positive regulation of cellular protein catabolic process, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, mesenchymal cell differentiation involved in kidney development, regulation of canonical Wnt signaling pathway, regulation of canonical Wnt signaling pathway, adipose tissue development, bone development, positive regulation of protein ubiquitination, Wnt signaling pathway, 1 2 10 8 3 12 15 10 22 ENSG00000184677 chr1 22428838 22531157 + ZBTB40 protein_coding 9923 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0003674, GO:0000981, GO:0000978, metal ion binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030282, GO:0006974, GO:0006357, bone mineralization, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, 89 78 207 207 61 337 186 67 182 ENSG00000184678 chr1 149884459 149886652 - HIST2H2BE protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. The protein has antibacterial and antifungal antimicrobial activity. [provided by RefSeq, Aug 2015]. 8349 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular space, nucleosome, GO:0046982, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, DNA binding, GO:0061844, GO:0050830, GO:0019731, GO:0006334, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, antibacterial humoral response, nucleosome assembly, nucleosome assembly, innate immune response in mucosa, 9789 10897 8719 3725 8403 6417 6558 9818 8134 ENSG00000184697 chr16 3014712 3020071 - CLDN6 protein_coding Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010]. 9074 GO:0016021, GO:0005923, GO:0005923, GO:0005886, GO:0005886, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005198, GO:0001618, identical protein binding, protein binding, structural molecule activity, virus receptor activity, GO:0070830, GO:0046718, GO:0016338, GO:0007155, bicellular tight junction assembly, viral entry into host cell, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 1 0 1 0 8 2 4 5 0 ENSG00000184698 chr11 5383812 5393263 + OR51M1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390059 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184702 chr22 19714464 19724224 + SEPT5 protein_coding This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]. 5413 GO:0032153, GO:0031105, GO:0031105, GO:0015630, GO:0008021, GO:0008021, GO:0005940, GO:0005886, cell division site, septin complex, septin complex, microtubule cytoskeleton, synaptic vesicle, synaptic vesicle, septin ring, plasma membrane, GO:0060090, GO:0042802, GO:0005525, GO:0005515, GO:0005198, GO:0003924, GO:0003924, molecular adaptor activity, identical protein binding, GTP binding, protein binding, structural molecule activity, GTPase activity, GTPase activity, GO:2000300, GO:0061640, GO:0035176, GO:0034613, GO:0030534, GO:0017157, GO:0017157, GO:0016080, regulation of synaptic vesicle exocytosis, cytoskeleton-dependent cytokinesis, social behavior, cellular protein localization, adult behavior, regulation of exocytosis, regulation of exocytosis, synaptic vesicle targeting, 3 3 6 4 7 0 1 0 1 ENSG00000184708 chr22 31436977 31496108 - EIF4ENIF1 protein_coding The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. 56478 GO:0043231, GO:0016607, GO:0016605, GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0000932, intracellular membrane-bounded organelle, nuclear speck, PML body, membrane, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, P-body, GO:0019900, GO:0005515, GO:0005049, GO:0003729, GO:0003723, kinase binding, protein binding, nuclear export signal receptor activity, mRNA binding, RNA binding, GO:1905618, GO:0106289, GO:0060213, GO:0051168, GO:0048255, GO:0045665, GO:0033962, GO:0033962, GO:0031047, GO:0019827, GO:0017148, GO:0017148, GO:0017148, GO:0006606, positive regulation of miRNA mediated inhibition of translation, negative regulation of deadenylation-dependent decapping of nuclear-transcribed mRNA, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, nuclear export, mRNA stabilization, negative regulation of neuron differentiation, P-body assembly, P-body assembly, gene silencing by RNA, stem cell population maintenance, negative regulation of translation, negative regulation of translation, negative regulation of translation, protein import into nucleus, 205 231 194 117 207 185 110 156 112 ENSG00000184709 chr9 137168758 137170051 - LRRC26 protein_coding 389816 GO:0070062, GO:0008076, GO:0008076, GO:0005887, GO:0005856, GO:0005737, extracellular exosome, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, cytoskeleton, cytoplasm, GO:0099104, GO:0099104, GO:0044325, GO:0044325, GO:0015459, GO:0005515, GO:0005249, GO:0005249, potassium channel activator activity, potassium channel activator activity, ion channel binding, ion channel binding, potassium channel regulator activity, protein binding, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:1903818, GO:0071805, positive regulation of voltage-gated potassium channel activity, potassium ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000184716 chr15 43794162 43800221 - SERINC4 protein_coding 619189 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0008654, phospholipid biosynthetic process, 239 310 287 239 317 361 230 237 338 ENSG00000184719 chr10 88273864 88584530 - RNLS protein_coding Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]. 55328 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0097621, GO:0070404, GO:0051379, GO:0016651, GO:0005515, monoamine oxidase activity, NADH binding, epinephrine binding, oxidoreductase activity, acting on NAD(P)H, protein binding, GO:1902074, GO:0071871, GO:0055114, GO:0045776, GO:0034356, GO:0010459, GO:0002931, response to salt, response to epinephrine, oxidation-reduction process, negative regulation of blood pressure, NAD biosynthesis via nicotinamide riboside salvage pathway, negative regulation of heart rate, response to ischemia, 6 2 12 6 6 9 2 0 7 ENSG00000184724 chr21 30613431 30613930 - KRTAP6-1 protein_coding 337966 GO:0005882, GO:0005829, GO:0005829, intermediate filament, cytosol, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000184730 chr16 28494649 28498970 + APOBR protein_coding Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]. 55911 GO:0042627, GO:0034362, GO:0034361, GO:0016020, GO:0005886, chylomicron, low-density lipoprotein particle, very-low-density lipoprotein particle, membrane, plasma membrane, GO:0030229, very-low-density lipoprotein particle receptor activity, GO:0034447, GO:0008203, GO:0006897, GO:0006869, GO:0006641, very-low-density lipoprotein particle clearance, cholesterol metabolic process, endocytosis, lipid transport, triglyceride metabolic process, 11744 12812 16257 4879 6439 5918 5285 5146 4948 ENSG00000184731 chr2 38814 46870 - FAM110C protein_coding 642273 GO:0005938, GO:0005938, GO:0005874, GO:0005815, GO:0005634, GO:0000922, cell cortex, cell cortex, microtubule, microtubule organizing center, nucleus, spindle pole, GO:0043014, GO:0043014, GO:0005515, alpha-tubulin binding, alpha-tubulin binding, protein binding, GO:0060491, GO:0060491, GO:0051897, GO:0030335, GO:0030335, regulation of cell projection assembly, regulation of cell projection assembly, positive regulation of protein kinase B signaling, positive regulation of cell migration, positive regulation of cell migration, 0 2 0 12 2 6 3 2 0 ENSG00000184735 chrX 22999961 23003589 + DDX53 protein_coding This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding. [provided by RefSeq, Sep 2011]. 168400 GO:0043231, GO:0005829, GO:0005730, GO:0005654, intracellular membrane-bounded organelle, cytosol, nucleolus, nucleoplasm, GO:0005524, GO:0003724, GO:0003723, ATP binding, RNA helicase activity, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000184741 chr11 56049785 56055730 + OR5AQ1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184743 chr11 63624087 63671921 - ATL3 protein_coding This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]. 25923 GO:0098826, GO:0071782, GO:0016021, GO:0016020, GO:0005789, GO:0005783, endoplasmic reticulum tubular network membrane, endoplasmic reticulum tubular network, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042802, GO:0005525, GO:0005515, GO:0003924, GO:0003924, identical protein binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1903373, GO:0051260, GO:0051260, GO:0007030, GO:0007029, GO:0007029, GO:0006888, positive regulation of endoplasmic reticulum tubular network organization, protein homooligomerization, protein homooligomerization, Golgi organization, endoplasmic reticulum organization, endoplasmic reticulum organization, endoplasmic reticulum to Golgi vesicle-mediated transport, 140 101 169 132 108 143 117 70 135 ENSG00000184752 chr12 94897055 95003770 - NDUFA12 protein_coding This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]. 55967 GO:0005829, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, cytosol, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0009055, GO:0008137, GO:0005515, electron transfer activity, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0042775, GO:0032981, GO:0007585, GO:0006979, GO:0006979, GO:0006120, mitochondrial ATP synthesis coupled electron transport, mitochondrial respiratory chain complex I assembly, respiratory gaseous exchange by respiratory system, response to oxidative stress, response to oxidative stress, mitochondrial electron transport, NADH to ubiquinone, 37 24 53 50 27 51 42 34 38 ENSG00000184761 chr2 130539095 130549883 - PRSS40B transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184774 chr1 202820266 202827225 + MGAT4EP transcribed_unitary_pseudogene 641515 0 0 0 0 0 0 0 0 0 ENSG00000184785 chrX 134990938 134992473 + SMIM10 protein_coding 644538 GO:0016021, integral component of membrane, 0 0 1 3 1 0 0 0 4 ENSG00000184786 chr6 169740114 169751587 - TCTE3 protein_coding 6991 GO:0030286, GO:0016020, GO:0005874, GO:0005737, dynein complex, membrane, microtubule, cytoplasm, GO:0005515, GO:0003774, protein binding, motor activity, 0 0 1 0 0 2 0 0 0 ENSG00000184787 chr21 44768580 44802019 - UBE2G2 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 7327 GO:0005829, GO:0005829, GO:0005829, GO:0005811, GO:0005783, GO:0005783, cytosol, cytosol, cytosol, lipid droplet, endoplasmic reticulum, endoplasmic reticulum, GO:0061631, GO:0061631, GO:0042802, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, identical protein binding, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:1904153, GO:0070936, GO:0044257, GO:0035458, GO:0030433, GO:0030433, GO:0016567, GO:0006511, GO:0000209, negative regulation of retrograde protein transport, ER to cytosol, protein K48-linked ubiquitination, cellular protein catabolic process, cellular response to interferon-beta, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 186 266 280 380 294 451 327 200 247 ENSG00000184788 chrX 85092287 85243961 - SATL1 protein_coding 340562 GO:0008080, N-acetyltransferase activity, 1 0 4 3 2 0 0 2 0 ENSG00000184789 chr11 48432217 48433147 - OR4C10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184792 chr22 30693782 30907824 + OSBP2 protein_coding The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]. 23762 GO:0097440, GO:0097038, GO:0043231, GO:0016020, GO:0005886, GO:0005829, apical dendrite, perinuclear endoplasmic reticulum, intracellular membrane-bounded organelle, membrane, plasma membrane, cytosol, GO:0032934, GO:0015485, GO:0015485, GO:0015248, GO:0005515, sterol binding, cholesterol binding, cholesterol binding, sterol transporter activity, protein binding, GO:0015918, GO:0007286, sterol transport, spermatid development, 2 2 4 13 9 10 9 2 7 ENSG00000184795 chr11 67711702 67716005 - UNC93B5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184809 chr21 39597147 39612821 - B3GALT5-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000184811 chr17 1279663 1300987 + TRARG1 protein_coding 286753 GO:0048471, GO:0030659, GO:0016021, GO:0016020, GO:0012505, GO:0005886, perinuclear region of cytoplasm, cytoplasmic vesicle membrane, integral component of membrane, membrane, endomembrane system, plasma membrane, GO:0099638, GO:0099500, GO:0072659, GO:0044381, GO:0032869, endosome to plasma membrane protein transport, vesicle fusion to plasma membrane, protein localization to plasma membrane, glucose import in response to insulin stimulus, cellular response to insulin stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000184814 chr3 139019031 139020926 - PRR23B protein_coding 389151 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000184828 chr18 48026673 48410752 - ZBTB7C protein_coding 201501 GO:0005575, GO:0000785, cellular_component, chromatin, GO:0046872, GO:0003674, GO:0000981, GO:0000978, metal ion binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903025, GO:0045944, GO:0045600, GO:0008285, GO:0006357, regulation of RNA polymerase II regulatory region sequence-specific DNA binding, positive regulation of transcription by RNA polymerase II, positive regulation of fat cell differentiation, negative regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 4 0 0 0 ENSG00000184831 chrX 23833353 23907934 - APOO protein_coding This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009]. 79135 GO:0140275, GO:0061617, GO:0061617, GO:0061617, GO:0034364, GO:0034362, GO:0034361, GO:0031305, GO:0005829, GO:0005789, GO:0005739, GO:0005739, GO:0005615, GO:0005576, GO:0001401, GO:0000139, MIB complex, MICOS complex, MICOS complex, MICOS complex, high-density lipoprotein particle, low-density lipoprotein particle, very-low-density lipoprotein particle, integral component of mitochondrial inner membrane, cytosol, endoplasmic reticulum membrane, mitochondrion, mitochondrion, extracellular space, extracellular region, SAM complex, Golgi membrane, GO:0005515, protein binding, GO:0042407, GO:0042407, GO:0007007, GO:0006869, cristae formation, cristae formation, inner mitochondrial membrane organization, lipid transport, 11 17 25 8 18 15 14 18 0 ENSG00000184838 chr5 120464278 120687332 + PRR16 protein_coding 51334 GO:0005515, protein binding, GO:0045793, GO:0045727, positive regulation of cell size, positive regulation of translation, 0 0 0 0 0 0 0 0 0 ENSG00000184840 chr5 177592158 177596124 + TMED9 protein_coding This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]. 54732 GO:0070062, GO:0033116, GO:0030140, GO:0030134, GO:0030133, GO:0016021, GO:0008021, GO:0005829, GO:0005794, GO:0005794, GO:0005793, GO:0005793, GO:0005789, GO:0005783, GO:0005783, GO:0000139, extracellular exosome, endoplasmic reticulum-Golgi intermediate compartment membrane, trans-Golgi network transport vesicle, COPII-coated ER to Golgi transport vesicle, transport vesicle, integral component of membrane, synaptic vesicle, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0019905, GO:0005515, syntaxin binding, protein binding, GO:0048205, GO:0048205, GO:0034498, GO:0032527, GO:0010638, GO:0007030, GO:0007030, GO:0006890, GO:0006888, GO:0006888, GO:0006886, COPI coating of Golgi vesicle, COPI coating of Golgi vesicle, early endosome to Golgi transport, protein exit from endoplasmic reticulum, positive regulation of organelle organization, Golgi organization, Golgi organization, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 233 227 271 115 185 129 164 138 125 ENSG00000184844 chrX 153841251 153841565 + CYCSP45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184845 chr5 175440039 175444208 - DRD1 protein_coding This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008]. 1812 GO:0097730, GO:0060170, GO:0043197, GO:0005929, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005634, non-motile cilium, ciliary membrane, dendritic spine, cilium, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, nucleus, GO:0035240, GO:0005515, GO:0004952, GO:0004930, GO:0001588, GO:0001588, GO:0001588, dopamine binding, protein binding, dopamine neurotransmitter receptor activity, G protein-coupled receptor activity, dopamine neurotransmitter receptor activity, coupled via Gs, dopamine neurotransmitter receptor activity, coupled via Gs, dopamine neurotransmitter receptor activity, coupled via Gs, GO:2000300, GO:1903351, GO:0071880, GO:0071870, GO:0060292, GO:0060291, GO:0060158, GO:0060158, GO:0060134, GO:0051968, GO:0051584, GO:0051482, GO:0051281, GO:0048148, GO:0046960, GO:0046959, GO:0046323, GO:0043987, GO:0043268, GO:0042711, GO:0042493, GO:0042417, GO:0042311, GO:0042053, GO:0035106, GO:0030432, GO:0030335, GO:0021853, GO:0021756, GO:0021542, GO:0019228, GO:0019226, GO:0015872, GO:0014002, GO:0010628, GO:0008542, GO:0007628, GO:0007625, GO:0007617, GO:0007613, GO:0007416, GO:0007212, GO:0007191, GO:0007190, GO:0007189, GO:0007187, GO:0007186, GO:0006606, GO:0001975, GO:0001963, GO:0001932, GO:0001662, GO:0001661, GO:0001659, regulation of synaptic vesicle exocytosis, cellular response to dopamine, adenylate cyclase-activating adrenergic receptor signaling pathway, cellular response to catecholamine stimulus, long-term synaptic depression, long-term synaptic potentiation, phospholipase C-activating dopamine receptor signaling pathway, phospholipase C-activating dopamine receptor signaling pathway, prepulse inhibition, positive regulation of synaptic transmission, glutamatergic, regulation of dopamine uptake involved in synaptic transmission, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of release of sequestered calcium ion into cytosol, behavioral response to cocaine, sensitization, habituation, glucose import, histone H3-S10 phosphorylation, positive regulation of potassium ion transport, maternal behavior, response to drug, dopamine metabolic process, vasodilation, regulation of dopamine metabolic process, operant conditioning, peristalsis, positive regulation of cell migration, cerebral cortex GABAergic interneuron migration, striatum development, dentate gyrus development, neuronal action potential, transmission of nerve impulse, dopamine transport, astrocyte development, positive regulation of gene expression, visual learning, adult walking behavior, grooming behavior, mating behavior, memory, synapse assembly, dopamine receptor signaling pathway, adenylate cyclase-activating dopamine receptor signaling pathway, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, protein import into nucleus, response to amphetamine, synaptic transmission, dopaminergic, regulation of protein phosphorylation, behavioral fear response, conditioned taste aversion, temperature homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000184856 chr21 22098617 22116528 + LINC00308 lincRNA 54143 0 0 0 0 0 0 0 0 0 ENSG00000184857 chr16 8780384 8797648 - TMEM186 protein_coding This gene encodes a potential transmembrane protein. [provided by RefSeq, Dec 2012]. 25880 GO:0016021, GO:0005739, GO:0005739, integral component of membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, 67 36 42 36 32 28 29 27 37 ENSG00000184860 chr16 81988855 82011488 - SDR42E1 protein_coding 93517 GO:0016021, integral component of membrane, GO:0016616, GO:0003854, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, GO:0055114, GO:0006694, oxidation-reduction process, steroid biosynthetic process, 8 3 3 18 6 20 15 12 4 ENSG00000184863 chr7 155644451 155781485 + RBM33 protein_coding 155435 GO:0003723, RNA binding, 1946 2162 2245 1537 2791 2443 1712 2039 2212 ENSG00000184867 chrX 101655281 101659891 - ARMCX2 protein_coding This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]. 9823 GO:0016021, GO:0005741, GO:0005739, integral component of membrane, mitochondrial outer membrane, mitochondrion, 0 0 0 4 1 0 2 4 0 ENSG00000184887 chr14 105248490 105251093 + BTBD6 protein_coding 90135 GO:0005829, GO:0005829, cytosol, cytosol, GO:0043687, GO:0022008, post-translational protein modification, neurogenesis, 120 60 131 120 76 131 121 51 111 ENSG00000184895 chrY 2786855 2787699 - SRY protein_coding This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]. 6736 GO:0016607, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, nuclear speck, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0008134, GO:0005516, GO:0003677, GO:0000981, GO:0000981, GO:0000981, GO:0000978, transcription factor binding, calmodulin binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000020, GO:0045944, GO:0045893, GO:0030238, GO:0030238, GO:0030154, GO:0010628, GO:0009653, GO:0007548, GO:0006355, GO:0000122, positive regulation of male gonad development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, male sex determination, male sex determination, cell differentiation, positive regulation of gene expression, anatomical structure morphogenesis, sex differentiation, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000184897 chr3 129314771 129316277 - H1FX protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015]. 8971 GO:0005730, GO:0005654, GO:0005634, GO:0000786, nucleolus, nucleoplasm, nucleus, nucleosome, GO:0045296, GO:0031492, GO:0003723, GO:0003690, cadherin binding, nucleosomal DNA binding, RNA binding, double-stranded DNA binding, GO:0045910, GO:0031936, GO:0030261, GO:0016584, GO:0006334, negative regulation of DNA recombination, negative regulation of chromatin silencing, chromosome condensation, nucleosome positioning, nucleosome assembly, 273 420 628 570 433 557 408 435 575 ENSG00000184898 chr2 151247940 151261879 - RBM43 protein_coding 375287 GO:0005515, GO:0003723, protein binding, RNA binding, 24 38 61 34 35 45 42 27 58 ENSG00000184900 chr21 44805617 44818779 - SUMO3 protein_coding This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014]. 6612 GO:0016605, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000776, PML body, cytoplasm, nucleoplasm, nucleus, nucleus, kinetochore, GO:0044389, GO:0031386, GO:0005515, ubiquitin-like protein ligase binding, protein tag, protein binding, GO:1900180, GO:0043392, GO:0016925, GO:0016925, regulation of protein localization to nucleus, negative regulation of DNA binding, protein sumoylation, protein sumoylation, 120 102 172 137 93 167 83 75 142 ENSG00000184903 chr7 110663051 111562517 - IMMP2L protein_coding This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]. 83943 GO:0042720, GO:0042720, GO:0016021, mitochondrial inner membrane peptidase complex, mitochondrial inner membrane peptidase complex, integral component of membrane, GO:0008233, GO:0004252, peptidase activity, serine-type endopeptidase activity, GO:0061300, GO:0033108, GO:0030728, GO:0022904, GO:0008015, GO:0007420, GO:0007283, GO:0006974, GO:0006801, GO:0006627, GO:0006627, GO:0006465, GO:0001541, cerebellum vasculature development, mitochondrial respiratory chain complex assembly, ovulation, respiratory electron transport chain, blood circulation, brain development, spermatogenesis, cellular response to DNA damage stimulus, superoxide metabolic process, protein processing involved in protein targeting to mitochondrion, protein processing involved in protein targeting to mitochondrion, signal peptide processing, ovarian follicle development, 1 0 2 14 5 3 4 0 11 ENSG00000184905 chrX 102125688 102127711 + TCEAL2 protein_coding This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. [provided by RefSeq, Jul 2008]. 140597 GO:0005634, nucleus, GO:0050699, WW domain binding, 0 0 0 1 0 0 0 2 0 ENSG00000184906 chr9 40497850 40566779 + AMYH02020865.1 transcribed_unprocessed_pseudogene 101929583 0 0 0 0 0 0 0 0 0 ENSG00000184908 chr1 16043736 16057308 + CLCNKB protein_coding The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 1188 GO:0034707, GO:0005887, GO:0005886, chloride channel complex, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0005247, metal ion binding, voltage-gated chloride channel activity, GO:1902476, GO:0034765, GO:0034220, GO:0007588, GO:0006821, chloride transmembrane transport, regulation of ion transmembrane transport, ion transmembrane transport, excretion, chloride transport, 0 0 0 0 0 0 0 0 0 ENSG00000184911 chrX 72777009 72848802 + DMRTC1B protein_coding 728656 GO:0005634, GO:0000785, nucleus, chromatin, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000184916 chr14 105140981 105168824 - JAG2 protein_coding The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 3714 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0008083, GO:0005515, GO:0005509, GO:0005112, GO:0005112, growth factor activity, protein binding, calcium ion binding, Notch binding, Notch binding, GO:1990134, GO:0045747, GO:0045061, GO:0042492, GO:0042475, GO:0042127, GO:0030217, GO:0030155, GO:0030154, GO:0016331, GO:0009912, GO:0007283, GO:0007219, GO:0007219, GO:0003016, GO:0001701, GO:0001501, epithelial cell apoptotic process involved in palatal shelf morphogenesis, positive regulation of Notch signaling pathway, thymic T cell selection, gamma-delta T cell differentiation, odontogenesis of dentin-containing tooth, regulation of cell population proliferation, T cell differentiation, regulation of cell adhesion, cell differentiation, morphogenesis of embryonic epithelium, auditory receptor cell fate commitment, spermatogenesis, Notch signaling pathway, Notch signaling pathway, respiratory system process, in utero embryonic development, skeletal system development, 1 1 0 0 0 0 0 1 0 ENSG00000184922 chr17 45221444 45247320 + FMNL1 protein_coding This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]. 752 GO:0070062, GO:0045335, GO:0032059, GO:0016020, GO:0005938, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005829, extracellular exosome, phagocytic vesicle, bleb, membrane, cell cortex, plasma membrane, cytosol, cytosol, cytosol, cytosol, GO:0051015, GO:0051015, GO:0032794, GO:0031267, GO:0005522, GO:0005515, GO:0003674, actin filament binding, actin filament binding, GTPase activating protein binding, small GTPase binding, profilin binding, protein binding, molecular_function, GO:0051014, GO:0030866, GO:0030866, GO:0016477, GO:0008360, GO:0008360, GO:0006929, actin filament severing, cortical actin cytoskeleton organization, cortical actin cytoskeleton organization, cell migration, regulation of cell shape, regulation of cell shape, substrate-dependent cell migration, 17649 17793 23647 7994 11880 11367 9632 9653 10130 ENSG00000184923 chr10 87225448 87236908 + NUTM2A protein_coding 728118 13 8 3 4 3 3 0 1 2 ENSG00000184924 chr2 24789734 24793382 - PTRHD1 protein_coding This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017]. 391356 GO:0005515, GO:0004045, protein binding, aminoacyl-tRNA hydrolase activity, 11 13 20 27 19 51 21 17 25 ENSG00000184925 chr9 136949551 136955497 + LCN12 protein_coding Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]. 286256 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005549, GO:0001972, odorant binding, retinoic acid binding, GO:0015909, long-chain fatty acid transport, 0 2 0 0 0 4 3 0 0 ENSG00000184933 chr11 6791736 6799689 - OR6A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 8590 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000184937 chr11 32387775 32435630 - WT1 protein_coding This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]. 7490 GO:0016607, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000785, nuclear speck, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, chromatin, GO:0070742, GO:0044729, GO:0043565, GO:0010385, GO:0008270, GO:0005515, GO:0003723, GO:0003700, GO:0003700, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000976, C2H2 zinc finger domain binding, hemi-methylated DNA-binding, sequence-specific DNA binding, double-stranded methylated DNA binding, zinc ion binding, protein binding, RNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:2001076, GO:2000195, GO:2000020, GO:1905643, GO:1902895, GO:0072302, GO:0072284, GO:0072207, GO:0072166, GO:0072112, GO:0072075, GO:0071371, GO:0071320, GO:0061032, GO:0060923, GO:0060539, GO:0060421, GO:0060231, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0043066, GO:0043066, GO:0043010, GO:0035802, GO:0032836, GO:0032835, GO:0030855, GO:0030539, GO:0030325, GO:0030308, GO:0010628, GO:0009888, GO:0008584, GO:0008406, GO:0008380, GO:0008285, GO:0008285, GO:0007530, GO:0007507, GO:0007356, GO:0007281, GO:0006357, GO:0006357, GO:0006355, GO:0006355, GO:0003156, GO:0001822, GO:0001658, GO:0001657, GO:0001570, GO:0000122, GO:0000122, positive regulation of metanephric ureteric bud development, negative regulation of female gonad development, positive regulation of male gonad development, positive regulation of DNA methylation, positive regulation of pri-miRNA transcription by RNA polymerase II, negative regulation of metanephric glomerular mesangial cell proliferation, metanephric S-shaped body morphogenesis, metanephric epithelium development, posterior mesonephric tubule development, glomerular visceral epithelial cell differentiation, metanephric mesenchyme development, cellular response to gonadotropin stimulus, cellular response to cAMP, visceral serous pericardium development, cardiac muscle cell fate commitment, diaphragm development, positive regulation of heart growth, mesenchymal to epithelial transition, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of apoptotic process, negative regulation of apoptotic process, camera-type eye development, adrenal cortex formation, glomerular basement membrane development, glomerulus development, epithelial cell differentiation, male genitalia development, adrenal gland development, negative regulation of cell growth, positive regulation of gene expression, tissue development, male gonad development, gonad development, RNA splicing, negative regulation of cell population proliferation, negative regulation of cell population proliferation, sex determination, heart development, thorax and anterior abdomen determination, germ cell development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, regulation of animal organ formation, kidney development, branching involved in ureteric bud morphogenesis, ureteric bud development, vasculogenesis, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000184939 chr16 68530090 68576072 + ZFP90 protein_coding This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]. 146198 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045893, GO:0045893, GO:0043392, GO:0006357, GO:0000122, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of DNA binding, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 33 63 64 114 60 161 109 56 112 ENSG00000184945 chr2 240691845 240698483 + AQP12A protein_coding 375318 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0015267, channel activity, GO:0055085, transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000184949 chr22 38578120 38656629 - FAM227A protein_coding 646851 0 0 0 0 0 3 0 0 0 ENSG00000184954 chr12 55469200 55470138 - OR6C70 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390327 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184956 chr11 1012821 1036706 - MUC6 protein_coding This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016]. 4588 GO:0031012, GO:0005886, GO:0005796, GO:0005615, extracellular matrix, plasma membrane, Golgi lumen, extracellular space, GO:0005201, extracellular matrix structural constituent, GO:0030277, GO:0016266, GO:0002223, maintenance of gastrointestinal epithelium, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000184961 chr9 39983821 39984401 - RPL7AP49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000184967 chr12 132144448 132152473 + NOC4L protein_coding 79050 GO:0032040, GO:0031965, GO:0030692, GO:0016021, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005654, small-subunit processome, nuclear membrane, Noc4p-Nop14p complex, integral component of membrane, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006364, GO:0006364, rRNA processing, rRNA processing, 59 62 85 49 35 49 55 34 33 ENSG00000184979 chr22 18149899 18177397 + USP18 protein_coding The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]. 11274 GO:0005829, GO:0005829, GO:0005829, GO:0005634, GO:0005634, cytosol, cytosol, cytosol, nucleus, nucleus, GO:0005515, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0060338, GO:0050727, GO:0016579, GO:0016579, GO:0006511, regulation of type I interferon-mediated signaling pathway, regulation of inflammatory response, protein deubiquitination, protein deubiquitination, ubiquitin-dependent protein catabolic process, 1 0 5 3 1 4 11 2 1 ENSG00000184983 chr22 42085525 42090955 - NDUFA6 protein_coding This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]. 4700 GO:0031966, GO:0005747, GO:0005747, GO:0005747, GO:0005743, mitochondrial membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0032981, GO:0006979, GO:0006979, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, response to oxidative stress, response to oxidative stress, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 0 0 0 1 0 0 0 0 0 ENSG00000184984 chr15 33968720 34067457 + CHRM5 protein_coding The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]. 1133 GO:0045211, GO:0045202, GO:0030425, GO:0005887, GO:0005886, postsynaptic membrane, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0016907, GO:0005515, GO:0004993, GO:0004435, neurotransmitter receptor activity, G protein-coupled acetylcholine receptor activity, protein binding, G protein-coupled serotonin receptor activity, phosphatidylinositol phospholipase C activity, GO:0098664, GO:0060304, GO:0019226, GO:0015872, GO:0007268, GO:0007213, GO:0007197, GO:0007187, GO:0007186, GO:0001696, G protein-coupled serotonin receptor signaling pathway, regulation of phosphatidylinositol dephosphorylation, transmission of nerve impulse, dopamine transport, chemical synaptic transmission, G protein-coupled acetylcholine receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, gastric acid secretion, 8 3 3 7 9 5 7 0 11 ENSG00000184985 chr4 7192538 7742836 + SORCS2 protein_coding This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]. 57537 GO:0098839, GO:0055038, GO:0043204, GO:0043197, GO:0031901, GO:0030659, GO:0016021, GO:0016020, GO:0005887, postsynaptic density membrane, recycling endosome membrane, perikaryon, dendritic spine, early endosome membrane, cytoplasmic vesicle membrane, integral component of membrane, membrane, integral component of plasma membrane, GO:0008188, neuropeptide receptor activity, GO:0060292, GO:0007218, GO:0006886, long-term synaptic depression, neuropeptide signaling pathway, intracellular protein transport, 4 3 0 1 3 0 4 4 0 ENSG00000184986 chr14 105526603 105530202 + TMEM121 protein_coding 80757 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 3 4 3 0 5 0 0 1 ENSG00000184988 chr17 43211835 43220041 + TMEM106A protein_coding 113277 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1904407, GO:0045348, GO:0045087, GO:0043410, GO:0043123, GO:0042116, GO:0035781, GO:0035780, GO:0032640, GO:0032635, GO:0032611, GO:0008150, positive regulation of nitric oxide metabolic process, positive regulation of MHC class II biosynthetic process, innate immune response, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, macrophage activation, CD86 biosynthetic process, CD80 biosynthetic process, tumor necrosis factor production, interleukin-6 production, interleukin-1 beta production, biological_process, 55 40 60 35 66 75 67 50 53 ENSG00000184990 chr14 104753100 104768494 + SIVA1 protein_coding This gene encodes an E3 ubiquitin ligase that regulates cell cycle progression, cell proliferation and apoptosis. The N-terminus of this protein binds to the cytoplasmic tail of the CD27 antigen, a member of the tumor necrosis factor receptor (TNFR) superfamily. In response to UV radiation-induced DNA damage, this protein has been shown to mediate the ubiquitination of proliferating cell nuclear antigen (PCNA), an important step in translesion DNA synthesis. [provided by RefSeq, Sep 2018]. 10572 GO:0005737, GO:0005654, cytoplasm, nucleoplasm, GO:0046872, GO:0005515, GO:0005175, GO:0005175, GO:0005164, GO:0001618, metal ion binding, protein binding, CD27 receptor binding, CD27 receptor binding, tumor necrosis factor receptor binding, virus receptor activity, GO:0097191, GO:0097191, GO:0046718, extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, viral entry into host cell, 301 225 270 187 217 224 215 188 205 ENSG00000184991 chrY 21583600 21594666 - TTTY13 lincRNA 83868 0 0 0 0 0 0 0 0 0 ENSG00000184992 chr12 124993700 125031231 + BRI3BP protein_coding 140707 GO:0016021, GO:0005741, GO:0005739, GO:0005739, integral component of membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, 131 158 225 44 89 88 69 93 85 ENSG00000184995 chr9 21480839 21482313 - IFNE protein_coding 338376 GO:0005615, extracellular space, GO:0005132, GO:0005125, type I interferon receptor binding, cytokine activity, GO:0051607, GO:0043330, GO:0042742, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0006959, GO:0002323, GO:0002286, GO:0002250, defense response to virus, response to exogenous dsRNA, defense response to bacterium, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000184999 chr11 63137867 63369718 + SLC22A10 protein_coding 387775 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, GO:0015711, transmembrane transport, organic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000185000 chr8 144314584 144326910 - DGAT1 protein_coding This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]. 8694 GO:0035579, GO:0016021, GO:0016021, GO:0005886, GO:0005789, GO:0005789, specific granule membrane, integral component of membrane, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0050252, GO:0042802, GO:0016746, GO:0008374, GO:0005515, GO:0004144, GO:0004144, retinol O-fatty-acyltransferase activity, identical protein binding, transferase activity, transferring acyl groups, O-acyltransferase activity, protein binding, diacylglycerol O-acyltransferase activity, diacylglycerol O-acyltransferase activity, GO:0046339, GO:0046339, GO:0043312, GO:0042572, GO:0036155, GO:0035336, GO:0034379, GO:0019915, GO:0019432, GO:0019432, GO:0019432, GO:0006641, GO:0006640, diacylglycerol metabolic process, diacylglycerol metabolic process, neutrophil degranulation, retinol metabolic process, acylglycerol acyl-chain remodeling, long-chain fatty-acyl-CoA metabolic process, very-low-density lipoprotein particle assembly, lipid storage, triglyceride biosynthetic process, triglyceride biosynthetic process, triglyceride biosynthetic process, triglyceride metabolic process, monoacylglycerol biosynthetic process, 891 629 963 886 784 956 921 578 746 ENSG00000185002 chr6 116877212 116932163 + RFX6 protein_coding The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]. 222546 GO:0005634, GO:0005634, GO:0000785, GO:0000785, nucleus, nucleus, chromatin, chromatin, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, GO:0000976, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0090104, GO:0050796, GO:0045944, GO:0045944, GO:0045893, GO:0042593, GO:0035774, GO:0031018, GO:0006357, GO:0003311, GO:0003310, GO:0003309, pancreatic epsilon cell differentiation, regulation of insulin secretion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, glucose homeostasis, positive regulation of insulin secretion involved in cellular response to glucose stimulus, endocrine pancreas development, regulation of transcription by RNA polymerase II, pancreatic D cell differentiation, pancreatic A cell differentiation, type B pancreatic cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000185008 chr3 75906695 77649964 + ROBO2 protein_coding The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 6092 GO:0070062, GO:0030673, GO:0016021, GO:0009986, GO:0005886, extracellular exosome, axolemma, integral component of membrane, cell surface, plasma membrane, GO:0042802, GO:0008046, GO:0008046, GO:0005515, identical protein binding, axon guidance receptor activity, axon guidance receptor activity, protein binding, GO:0061364, GO:0060412, GO:0051964, GO:0050925, GO:0050772, GO:0035904, GO:0035481, GO:0032870, GO:0031290, GO:0021891, GO:0016199, GO:0007420, GO:0007417, GO:0007411, GO:0007411, GO:0007156, GO:0003272, GO:0003184, GO:0003180, GO:0003148, GO:0001657, GO:0001656, apoptotic process involved in luteolysis, ventricular septum morphogenesis, negative regulation of synapse assembly, negative regulation of negative chemotaxis, positive regulation of axonogenesis, aorta development, positive regulation of Notch signaling pathway involved in heart induction, cellular response to hormone stimulus, retinal ganglion cell axon guidance, olfactory bulb interneuron development, axon midline choice point recognition, brain development, central nervous system development, axon guidance, axon guidance, homophilic cell adhesion via plasma membrane adhesion molecules, endocardial cushion formation, pulmonary valve morphogenesis, aortic valve morphogenesis, outflow tract septum morphogenesis, ureteric bud development, metanephros development, 0 0 0 0 0 0 0 0 0 ENSG00000185009 chr10 74120255 74151063 - AP3M1 protein_coding The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 26985 GO:1904115, GO:0043231, GO:0031410, GO:0030659, GO:0030131, GO:0005794, GO:0005765, GO:0005764, axon cytoplasm, intracellular membrane-bounded organelle, cytoplasmic vesicle, cytoplasmic vesicle membrane, clathrin adaptor complex, Golgi apparatus, lysosomal membrane, lysosome, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0048490, GO:0016192, GO:0016032, GO:0008089, GO:0006897, GO:0006622, anterograde synaptic vesicle transport, vesicle-mediated transport, viral process, anterograde axonal transport, endocytosis, protein targeting to lysosome, 279 298 331 158 254 249 156 216 154 ENSG00000185010 chrX 154835788 155026940 - F8 protein_coding This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]. 2157 GO:0033116, GO:0031093, GO:0030134, GO:0005886, GO:0005788, GO:0005615, GO:0005576, GO:0005576, GO:0000139, endoplasmic reticulum-Golgi intermediate compartment membrane, platelet alpha granule lumen, COPII-coated ER to Golgi transport vesicle, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular region, extracellular region, Golgi membrane, GO:0016491, GO:0005515, GO:0005507, oxidoreductase activity, protein binding, copper ion binding, GO:0055114, GO:0048208, GO:0030168, GO:0007597, GO:0007597, GO:0007596, GO:0006953, GO:0006888, GO:0002576, oxidation-reduction process, COPII vesicle coating, platelet activation, blood coagulation, intrinsic pathway, blood coagulation, intrinsic pathway, blood coagulation, acute-phase response, endoplasmic reticulum to Golgi vesicle-mediated transport, platelet degranulation, 54 31 63 22 28 46 29 28 20 ENSG00000185013 chr2 18562872 18589572 - NT5C1B protein_coding Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008]. 93034 GO:0005829, GO:0005829, GO:0005634, cytosol, cytosol, nucleus, GO:0008253, GO:0008253, GO:0000287, GO:0000166, 5'-nucleotidase activity, 5'-nucleotidase activity, magnesium ion binding, nucleotide binding, GO:0046085, GO:0016311, GO:0006195, adenosine metabolic process, dephosphorylation, purine nucleotide catabolic process, 1 0 0 2 0 0 0 3 0 ENSG00000185015 chr8 85220587 85284073 + CA13 protein_coding Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]. 377677 GO:0043231, GO:0043209, GO:0005829, GO:0005829, GO:0005737, intracellular membrane-bounded organelle, myelin sheath, cytosol, cytosol, cytoplasm, GO:0016836, GO:0008270, GO:0005515, GO:0004089, hydro-lyase activity, zinc ion binding, protein binding, carbonate dehydratase activity, GO:0015701, GO:0006730, bicarbonate transport, one-carbon metabolic process, 0 1 2 8 2 13 1 0 0 ENSG00000185019 chr20 3107573 3160196 - UBOX5 protein_coding This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 22888 GO:0016604, GO:0005925, GO:0005654, GO:0005634, GO:0005634, nuclear body, focal adhesion, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0034450, GO:0034450, GO:0031625, GO:0031625, GO:0005515, metal ion binding, ubiquitin-ubiquitin ligase activity, ubiquitin-ubiquitin ligase activity, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, GO:0000209, GO:0000209, protein polyubiquitination, protein polyubiquitination, 133 142 181 49 97 82 62 73 79 ENSG00000185022 chr22 38200767 38216511 + MAFF protein_coding The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. 23764 GO:0005739, GO:0005654, GO:0005654, GO:0005634, GO:0000785, mitochondrion, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045604, GO:0035914, GO:0007596, GO:0007567, GO:0006357, GO:0001701, positive regulation of transcription by RNA polymerase II, regulation of epidermal cell differentiation, skeletal muscle cell differentiation, blood coagulation, parturition, regulation of transcription by RNA polymerase II, in utero embryonic development, 1359 1714 1409 8729 9114 11108 8739 6897 8601 ENSG00000185024 chr14 105209286 105315589 - BRF1 protein_coding This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]. 2972 GO:0097550, GO:0005654, GO:0005634, GO:0000126, GO:0000126, transcription preinitiation complex, nucleoplasm, nucleus, transcription factor TFIIIB complex, transcription factor TFIIIB complex, GO:0046872, GO:0017025, GO:0005515, GO:0001006, GO:0000995, metal ion binding, TBP-class protein binding, protein binding, RNA polymerase III type 3 promoter sequence-specific DNA binding, RNA polymerase III general transcription initiation factor activity, GO:0045945, GO:0009304, GO:0009303, GO:0006384, GO:0006383, GO:0006383, GO:0006352, positive regulation of transcription by RNA polymerase III, tRNA transcription, rRNA transcription, transcription initiation from RNA polymerase III promoter, transcription by RNA polymerase III, transcription by RNA polymerase III, DNA-templated transcription, initiation, 72 69 114 100 70 104 104 58 95 ENSG00000185028 chr5 191511 195353 + LRRC14B protein_coding The protein encoded by this gene is a leucine-rich repeat containing protein that is a member of the PRAME family. [provided by RefSeq, Apr 2017]. 389257 GO:0005737, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000185031 chr1 64984608 64986087 - SLC2A3P2 processed_pseudogene 4 7 3 5 12 2 2 17 9 ENSG00000185033 chr15 90160604 90229679 + SEMA4B protein_coding 10509 GO:0045202, GO:0005887, GO:0005615, synapse, integral component of plasma membrane, extracellular space, GO:0045499, GO:0030215, chemorepellent activity, semaphorin receptor binding, GO:0071526, GO:0050919, GO:0048843, GO:0030335, GO:0007411, GO:0001755, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, positive regulation of cell migration, axon guidance, neural crest cell migration, 967 1018 967 928 1271 1035 922 847 942 ENSG00000185037 chr7 63291518 63304056 - ZNF733P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185038 chr2 233775679 233833423 + MROH2A protein_coding This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]. 339766 0 0 0 0 0 0 0 0 0 ENSG00000185040 chr7 76531319 76541459 - SPDYE16 protein_coding 102723555 GO:0019901, protein kinase binding, 3 4 8 4 3 2 8 2 1 ENSG00000185043 chr15 90229975 90234047 - CIB1 protein_coding This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. 10519 GO:0071944, GO:0070062, GO:0048471, GO:0043204, GO:0043025, GO:0043005, GO:0042383, GO:0032587, GO:0032433, GO:0031982, GO:0030426, GO:0030425, GO:0030027, GO:0016324, GO:0016020, GO:0005886, GO:0005813, GO:0005794, GO:0005783, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, cell periphery, extracellular exosome, perinuclear region of cytoplasm, perikaryon, neuronal cell body, neuron projection, sarcolemma, ruffle membrane, filopodium tip, vesicle, growth cone, dendrite, lamellipodium, apical plasma membrane, membrane, plasma membrane, centrosome, Golgi apparatus, endoplasmic reticulum, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0044325, GO:0043495, GO:0031267, GO:0030291, GO:0019901, GO:0008427, GO:0008022, GO:0005515, GO:0005509, ion channel binding, protein-membrane adaptor activity, small GTPase binding, protein serine/threonine kinase inhibitor activity, protein kinase binding, calcium-dependent protein kinase inhibitor activity, protein C-terminus binding, protein binding, calcium ion binding, GO:2000256, GO:1990090, GO:1903078, GO:1900026, GO:0097191, GO:0090314, GO:0090050, GO:0071902, GO:0071901, GO:0071363, GO:0071356, GO:0070886, GO:0070374, GO:0051898, GO:0051302, GO:0051301, GO:0051092, GO:0045653, GO:0043085, GO:0043066, GO:0042127, GO:0038163, GO:0033630, GO:0031122, GO:0030335, GO:0030307, GO:0030220, GO:0010977, GO:0008285, GO:0008284, GO:0007286, GO:0007155, GO:0007113, GO:0007026, GO:0006974, GO:0006915, GO:0006302, GO:0002931, GO:0001954, GO:0001934, GO:0001933, GO:0001525, positive regulation of male germ cell proliferation, cellular response to nerve growth factor stimulus, positive regulation of protein localization to plasma membrane, positive regulation of substrate adhesion-dependent cell spreading, extrinsic apoptotic signaling pathway, positive regulation of protein targeting to membrane, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of protein serine/threonine kinase activity, negative regulation of protein serine/threonine kinase activity, cellular response to growth factor stimulus, cellular response to tumor necrosis factor, positive regulation of calcineurin-NFAT signaling cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of protein kinase B signaling, regulation of cell division, cell division, positive regulation of NF-kappaB transcription factor activity, negative regulation of megakaryocyte differentiation, positive regulation of catalytic activity, negative regulation of apoptotic process, regulation of cell population proliferation, thrombopoietin-mediated signaling pathway, positive regulation of cell adhesion mediated by integrin, cytoplasmic microtubule organization, positive regulation of cell migration, positive regulation of cell growth, platelet formation, negative regulation of neuron projection development, negative regulation of cell population proliferation, positive regulation of cell population proliferation, spermatid development, cell adhesion, endomitotic cell cycle, negative regulation of microtubule depolymerization, cellular response to DNA damage stimulus, apoptotic process, double-strand break repair, response to ischemia, positive regulation of cell-matrix adhesion, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, angiogenesis, 837 940 998 623 830 851 631 701 714 ENSG00000185046 chr12 98726457 99984654 - ANKS1B protein_coding This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]. 56899 GO:0043231, GO:0043197, GO:0015030, GO:0014069, GO:0005886, GO:0005829, GO:0005829, intracellular membrane-bounded organelle, dendritic spine, Cajal body, postsynaptic density, plasma membrane, cytosol, cytosol, GO:0046875, GO:0046875, ephrin receptor binding, ephrin receptor binding, GO:1900383, GO:0048013, regulation of synaptic plasticity by receptor localization to synapse, ephrin receptor signaling pathway, 371 323 427 247 397 401 274 323 342 ENSG00000185049 chr4 1982714 2041903 - NELFA protein_coding This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]. 7469 GO:0032021, GO:0032021, GO:0016604, GO:0005829, GO:0005654, GO:0005654, NELF complex, NELF complex, nuclear body, cytosol, nucleoplasm, nucleoplasm, GO:0005515, protein binding, GO:0050434, GO:0034244, GO:0007275, GO:0006368, GO:0006366, positive regulation of viral transcription, negative regulation of transcription elongation from RNA polymerase II promoter, multicellular organism development, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 78 77 107 95 113 107 85 79 68 ENSG00000185052 chr20 19212646 19722937 + SLC24A3 protein_coding Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]. 57419 GO:0071944, GO:0071944, GO:0044214, GO:0005887, GO:0005886, GO:0005886, cell periphery, cell periphery, spanning component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015293, GO:0008273, GO:0008273, GO:0008273, GO:0005262, symporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, calcium channel activity, GO:0150104, GO:0098656, GO:0071805, GO:0070588, GO:0070588, GO:0035725, GO:0030282, GO:0010629, GO:0010628, GO:0006874, GO:0006874, GO:0006874, GO:0006811, transport across blood-brain barrier, anion transmembrane transport, potassium ion transmembrane transport, calcium ion transmembrane transport, calcium ion transmembrane transport, sodium ion transmembrane transport, bone mineralization, negative regulation of gene expression, positive regulation of gene expression, cellular calcium ion homeostasis, cellular calcium ion homeostasis, cellular calcium ion homeostasis, ion transport, 13 28 24 13 5 5 15 8 10 ENSG00000185053 chr8 14089864 15238339 - SGCZ protein_coding The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]. 137868 GO:0042383, GO:0016021, GO:0016012, GO:0016012, GO:0005856, GO:0005737, sarcolemma, integral component of membrane, sarcoglycan complex, sarcoglycan complex, cytoskeleton, cytoplasm, GO:0061024, GO:0060047, GO:0055001, GO:0048738, GO:0046716, membrane organization, heart contraction, muscle cell development, cardiac muscle tissue development, muscle cell cellular homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000185055 chr7 105565120 105600875 - EFCAB10 protein_coding 100130771 GO:0005509, calcium ion binding, 22 23 17 47 36 28 40 21 36 ENSG00000185056 chr5 173973779 174006140 + C5orf47 protein_coding 133491 3 0 2 7 5 0 3 2 0 ENSG00000185065 chr22 19447893 19450105 + AC000068.1 antisense 1 6 3 8 9 2 9 4 6 ENSG00000185069 chr12 52768155 52777345 - KRT76 protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]. 51350 GO:0070062, GO:0045095, GO:0005882, GO:0005829, GO:0005634, extracellular exosome, keratin filament, intermediate filament, cytosol, nucleus, GO:0005515, protein binding, GO:0070268, GO:0048733, GO:0043473, GO:0031424, GO:0007010, cornification, sebaceous gland development, pigmentation, keratinization, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000185070 chr14 85530144 85654426 + FLRT2 protein_coding This gene encodes a member of the fibronectin leucine rich transmembrane (FLRT) family of cell adhesion molecules, which regulate early embryonic vascular and neural development. The encoded type I transmembrane protein has an extracellular region consisting of an N-terminal leucine-rich repeat domain and a type 3 fibronectin domain, followed by a transmembrane domain and a short C-terminal cytoplasmic tail domain. It functions as both a homophilic cell adhesion molecule and a heterophilic chemorepellent through its interaction with members of the uncoordinated-5 receptor family. Proteolytic removal of the extracellular region controls the migration of neurons in the developing cortex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 23768 GO:0070062, GO:0045202, GO:0043005, GO:0031012, GO:0005925, GO:0005925, GO:0005911, GO:0005887, GO:0005887, GO:0005886, GO:0005789, GO:0005615, extracellular exosome, synapse, neuron projection, extracellular matrix, focal adhesion, focal adhesion, cell-cell junction, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, extracellular space, GO:0045499, GO:0030674, GO:0005104, chemorepellent activity, protein-macromolecule adaptor activity, fibroblast growth factor receptor binding, GO:2001222, GO:0071711, GO:0061343, GO:0051965, GO:0050919, GO:0008543, GO:0008543, GO:0008150, GO:0007411, GO:0003007, regulation of neuron migration, basement membrane organization, cell adhesion involved in heart morphogenesis, positive regulation of synapse assembly, negative chemotaxis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, biological_process, axon guidance, heart morphogenesis, 0 0 0 1 0 0 1 0 0 ENSG00000185074 chr9 90216039 90216924 + OR7E31P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185078 chr2 208031383 208031953 - AC093698.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185085 chr11 62646848 62653302 - INTS5 protein_coding The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in the transcription and processing of their transcripts. The protein encoded by this gene represents a subunit of the Integrator complex. [provided by RefSeq, Aug 2016]. 80789 GO:0032039, GO:0032039, GO:0031965, GO:0016021, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, integrator complex, integrator complex, nuclear membrane, integral component of membrane, membrane, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0042795, GO:0034472, GO:0016180, snRNA transcription by RNA polymerase II, snRNA 3'-end processing, snRNA processing, 35 39 34 24 27 34 34 28 38 ENSG00000185088 chr15 63125872 63158021 - RPS27L protein_coding This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008]. 51065 GO:0022627, GO:0005634, cytosolic small ribosomal subunit, nucleus, GO:0046872, GO:0008656, GO:0008494, GO:0005515, GO:0003735, GO:0003723, GO:0003723, metal ion binding, cysteine-type endopeptidase activator activity involved in apoptotic process, translation activator activity, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0045727, GO:0042771, GO:0031571, GO:0006978, GO:0006919, GO:0006412, GO:0000028, positive regulation of translation, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, mitotic G1 DNA damage checkpoint, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, activation of cysteine-type endopeptidase activity involved in apoptotic process, translation, ribosomal small subunit assembly, 66 49 77 80 51 57 77 77 83 ENSG00000185090 chr1 37793802 37801137 + MANEAL protein_coding 149175 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0004559, alpha-mannosidase activity, 0 3 1 2 4 2 11 0 0 ENSG00000185100 chr14 104724186 104747325 + ADSSL1 protein_coding This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 122622 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:0051015, GO:0042802, GO:0042301, GO:0005525, GO:0004019, GO:0004019, GO:0004019, GO:0003924, GO:0000287, actin filament binding, identical protein binding, phosphate ion binding, GTP binding, adenylosuccinate synthase activity, adenylosuccinate synthase activity, adenylosuccinate synthase activity, GTPase activity, magnesium ion binding, GO:0071257, GO:0046040, GO:0044208, GO:0044208, GO:0042594, GO:0035690, GO:0014850, GO:0009168, GO:0006541, GO:0006531, GO:0006167, GO:0002376, cellular response to electrical stimulus, IMP metabolic process, 'de novo' AMP biosynthetic process, 'de novo' AMP biosynthetic process, response to starvation, cellular response to drug, response to muscle activity, purine ribonucleoside monophosphate biosynthetic process, glutamine metabolic process, aspartate metabolic process, AMP biosynthetic process, immune system process, 0 0 5 1 3 0 0 0 6 ENSG00000185101 chr11 417933 442011 - ANO9 protein_coding The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]. 338440 GO:0016021, GO:0005886, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, GO:0017128, GO:0005515, GO:0005254, GO:0005229, GO:0005229, GO:0005229, phospholipid scramblase activity, protein binding, chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, intracellular calcium activated chloride channel activity, GO:1902939, GO:1902476, GO:0061591, GO:0061590, GO:0061589, GO:0055085, GO:0034220, GO:0006821, negative regulation of intracellular calcium activated chloride channel activity, chloride transmembrane transport, calcium activated galactosylceramide scrambling, calcium activated phosphatidylcholine scrambling, calcium activated phosphatidylserine scrambling, transmembrane transport, ion transmembrane transport, chloride transport, 43 37 96 136 20 121 143 22 68 ENSG00000185104 chr1 50437028 50960263 - FAF1 protein_coding Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]. 11124 GO:0048471, GO:0034098, GO:0031265, GO:0005829, GO:0005654, GO:0005635, GO:0005634, perinuclear region of cytoplasm, VCP-NPL4-UFD1 AAA ATPase complex, CD95 death-inducing signaling complex, cytosol, nucleoplasm, nuclear envelope, nucleus, GO:0051059, GO:0043130, GO:0031625, GO:0031072, GO:0019904, GO:0019901, GO:0019887, GO:0005515, NF-kappaB binding, ubiquitin binding, ubiquitin protein ligase binding, heat shock protein binding, protein domain specific binding, protein kinase binding, protein kinase regulator activity, protein binding, GO:1903364, GO:1902043, GO:0045859, GO:0045740, GO:0043161, GO:0043065, GO:0042176, GO:0031334, GO:0030155, GO:0010942, GO:0008219, GO:0007253, GO:0006915, positive regulation of cellular protein catabolic process, positive regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of protein kinase activity, positive regulation of DNA replication, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of apoptotic process, regulation of protein catabolic process, positive regulation of protein-containing complex assembly, regulation of cell adhesion, positive regulation of cell death, cell death, cytoplasmic sequestering of NF-kappaB, apoptotic process, 46 44 68 76 40 110 72 35 42 ENSG00000185105 chr17 81939645 81947233 - MYADML2 protein_coding 255275 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000185112 chr3 194686544 194689037 + FAM43A protein_coding 131583 GO:0005515, protein binding, 38 41 67 107 211 181 93 117 110 ENSG00000185115 chr15 29264992 29269829 - NSMCE3 protein_coding The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]. 56160 GO:0030915, GO:0005737, GO:0005654, GO:0000781, Smc5-Smc6 complex, cytoplasm, nucleoplasm, chromosome, telomeric region, GO:0046983, GO:0005515, protein dimerization activity, protein binding, GO:0072711, GO:0071478, GO:0040008, GO:0034644, GO:0031398, GO:0006310, GO:0006281, cellular response to hydroxyurea, cellular response to radiation, regulation of growth, cellular response to UV, positive regulation of protein ubiquitination, DNA recombination, DNA repair, 0 2 1 0 0 4 1 0 1 ENSG00000185122 chr8 144291591 144314722 + HSF1 protein_coding The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phosphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Jul 2017]. 3297 GO:1990904, GO:0101031, GO:0097431, GO:0097165, GO:0048471, GO:0045120, GO:0016605, GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000792, GO:0000791, GO:0000785, GO:0000777, GO:0000776, ribonucleoprotein complex, chaperone complex, mitotic spindle pole, nuclear stress granule, perinuclear region of cytoplasm, pronucleus, PML body, cytosol, cytosol, centrosome, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, heterochromatin, euchromatin, chromatin, condensed chromosome kinetochore, kinetochore, GO:1990841, GO:1990837, GO:0098847, GO:0097677, GO:0061770, GO:0051879, GO:0046982, GO:0043621, GO:0043565, GO:0042802, GO:0042802, GO:0031490, GO:0031072, GO:0019901, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0001162, GO:0000981, GO:0000978, GO:0000978, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, sequence-specific single stranded DNA binding, STAT family protein binding, translation elongation factor binding, Hsp90 protein binding, protein heterodimerization activity, protein self-association, sequence-specific DNA binding, identical protein binding, identical protein binding, chromatin DNA binding, heat shock protein binding, protein kinase binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001033, GO:1990911, GO:1990910, GO:1904845, GO:1904843, GO:1904528, GO:1904385, GO:1903936, GO:1902512, GO:1901215, GO:1900365, GO:1900034, GO:1900034, GO:0120162, GO:0090261, GO:0090084, GO:0072738, GO:0071480, GO:0071392, GO:0071280, GO:0071276, GO:0071222, GO:0070301, GO:0061408, GO:0060136, GO:0051028, GO:0045944, GO:0045931, GO:0043280, GO:0042531, GO:0040018, GO:0035865, GO:0034622, GO:0034620, GO:0034605, GO:0034605, GO:0033574, GO:0032720, GO:0031333, GO:0016032, GO:0014823, GO:0010667, GO:0009299, GO:0008285, GO:0008284, GO:0007584, GO:0007283, GO:0007143, GO:0006952, GO:0006397, GO:0006357, GO:0006281, GO:0001892, GO:0000165, GO:0000122, negative regulation of double-strand break repair via nonhomologous end joining, response to psychosocial stress, response to hypobaric hypoxia, cellular response to L-glutamine, cellular response to nitroglycerin, positive regulation of microtubule binding, cellular response to angiotensin, cellular response to sodium arsenite, positive regulation of apoptotic DNA fragmentation, negative regulation of neuron death, positive regulation of mRNA polyadenylation, regulation of cellular response to heat, regulation of cellular response to heat, positive regulation of cold-induced thermogenesis, positive regulation of inclusion body assembly, negative regulation of inclusion body assembly, cellular response to diamide, cellular response to gamma radiation, cellular response to estradiol stimulus, cellular response to copper ion, cellular response to cadmium ion, cellular response to lipopolysaccharide, cellular response to hydrogen peroxide, positive regulation of transcription from RNA polymerase II promoter in response to heat stress, embryonic process involved in female pregnancy, mRNA transport, positive regulation of transcription by RNA polymerase II, positive regulation of mitotic cell cycle, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of multicellular organism growth, cellular response to potassium ion, cellular protein-containing complex assembly, cellular response to unfolded protein, cellular response to heat, cellular response to heat, response to testosterone, negative regulation of tumor necrosis factor production, negative regulation of protein-containing complex assembly, viral process, response to activity, negative regulation of cardiac muscle cell apoptotic process, mRNA transcription, negative regulation of cell population proliferation, positive regulation of cell population proliferation, response to nutrient, spermatogenesis, female meiotic nuclear division, defense response, mRNA processing, regulation of transcription by RNA polymerase II, DNA repair, embryonic placenta development, MAPK cascade, negative regulation of transcription by RNA polymerase II, 289 420 354 309 388 382 295 293 294 ENSG00000185127 chr6 169702190 169704856 + C6orf120 protein_coding This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. 387263 GO:0035578, GO:0005576, azurophil granule lumen, extracellular region, GO:0043312, GO:0006915, neutrophil degranulation, apoptotic process, 204 135 244 105 82 128 107 68 99 ENSG00000185129 chr5 140107777 140125619 + PURA protein_coding This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]. 5813 GO:0098978, GO:0098794, GO:0043025, GO:0032839, GO:0005634, GO:0005634, GO:0000781, glutamatergic synapse, postsynapse, neuronal cell body, dendrite cytoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0046332, GO:0032422, GO:0008134, GO:0005515, GO:0003723, GO:0003697, GO:0003691, GO:0000981, GO:0000977, GO:0000900, SMAD binding, purine-rich negative regulatory element binding, transcription factor binding, protein binding, RNA binding, single-stranded DNA binding, double-stranded telomeric DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, translation repressor activity, mRNA regulatory element binding, GO:0098963, GO:0050673, GO:0046651, GO:0030154, GO:0017148, GO:0008284, GO:0007399, GO:0006357, GO:0006270, GO:0006268, GO:0000122, dendritic transport of messenger ribonucleoprotein complex, epithelial cell proliferation, lymphocyte proliferation, cell differentiation, negative regulation of translation, positive regulation of cell population proliferation, nervous system development, regulation of transcription by RNA polymerase II, DNA replication initiation, DNA unwinding involved in DNA replication, negative regulation of transcription by RNA polymerase II, 89 80 182 108 70 206 94 54 84 ENSG00000185130 chr6 27807444 27807931 - HIST1H2BL protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8340 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleosome, GO:0046982, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, DNA binding, GO:0016567, GO:0006334, GO:0006334, protein ubiquitination, nucleosome assembly, nucleosome assembly, 1 0 0 0 0 0 2 0 0 ENSG00000185133 chr22 31122731 31134696 + INPP5J protein_coding 27124 GO:0043198, GO:0030426, GO:0019898, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0001726, GO:0001726, dendritic shaft, growth cone, extrinsic component of membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, ruffle, ruffle, GO:0052659, GO:0052658, GO:0034485, GO:0017124, GO:0005515, GO:0004445, GO:0004439, inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity, inositol-1,4,5-trisphosphate 5-phosphatase activity, phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity, SH3 domain binding, protein binding, inositol-polyphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, GO:0046856, GO:0046855, GO:0043647, GO:0033137, GO:0031115, GO:0010977, GO:0006661, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, inositol phosphate metabolic process, negative regulation of peptidyl-serine phosphorylation, negative regulation of microtubule polymerization, negative regulation of neuron projection development, phosphatidylinositol biosynthetic process, 0 2 3 1 4 5 0 4 5 ENSG00000185149 chr4 155208629 155217078 + NPY2R protein_coding 4887 GO:0097730, GO:0005929, GO:0005887, GO:0005886, non-motile cilium, cilium, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0005246, GO:0004983, GO:0001601, signaling receptor activity, protein binding, calcium channel regulator activity, neuropeptide Y receptor activity, peptide YY receptor activity, GO:2000252, GO:0090394, GO:0051967, GO:0051930, GO:0051048, GO:0046903, GO:0046010, GO:0045987, GO:0043951, GO:0033603, GO:0010811, GO:0007626, GO:0007568, GO:0007263, GO:0007218, GO:0007204, GO:0007193, GO:0007186, GO:0003214, GO:0003151, GO:0002793, GO:0001662, negative regulation of feeding behavior, negative regulation of excitatory postsynaptic potential, negative regulation of synaptic transmission, glutamatergic, regulation of sensory perception of pain, negative regulation of secretion, secretion, positive regulation of circadian sleep/wake cycle, non-REM sleep, positive regulation of smooth muscle contraction, negative regulation of cAMP-mediated signaling, positive regulation of dopamine secretion, positive regulation of cell-substrate adhesion, locomotory behavior, aging, nitric oxide mediated signal transduction, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cardiac left ventricle morphogenesis, outflow tract morphogenesis, positive regulation of peptide secretion, behavioral fear response, 0 0 0 0 0 0 0 0 0 ENSG00000185155 chr1 226223618 226227054 + MIXL1 protein_coding Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008]. 83881 GO:0005654, GO:0000785, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, chromatin, GO:1990837, GO:0042803, GO:0001228, GO:0001103, GO:0001085, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein homodimerization activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II repressing transcription factor binding, RNA polymerase II transcription factor binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000382, GO:1901533, GO:0048565, GO:0045944, GO:0042074, GO:0035987, GO:0007507, GO:0007492, GO:0007369, GO:0006357, GO:0002244, GO:0001706, positive regulation of mesoderm development, negative regulation of hematopoietic progenitor cell differentiation, digestive tract development, positive regulation of transcription by RNA polymerase II, cell migration involved in gastrulation, endodermal cell differentiation, heart development, endoderm development, gastrulation, regulation of transcription by RNA polymerase II, hematopoietic progenitor cell differentiation, endoderm formation, 0 1 0 0 0 0 0 1 0 ENSG00000185156 chr17 8797162 8799349 - MFSD6L protein_coding 162387 GO:0016021, GO:0016020, integral component of membrane, membrane, 23 31 25 32 48 17 36 36 28 ENSG00000185158 chr17 32007872 32053504 + LRRC37B protein_coding 114659 GO:0016021, integral component of membrane, 153 137 143 195 186 150 200 159 161 ENSG00000185163 chr12 132136594 132144335 - DDX51 protein_coding 317781 GO:0016020, GO:0005730, GO:0005634, membrane, nucleolus, nucleus, GO:0005524, GO:0003724, GO:0003723, ATP binding, RNA helicase activity, RNA binding, GO:0006364, rRNA processing, 30 23 43 58 37 76 26 16 94 ENSG00000185164 chr16 18417325 18562211 - NOMO2 protein_coding This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 283820 GO:0032991, GO:0016021, GO:0005789, GO:0005789, protein-containing complex, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0030246, GO:0005515, carbohydrate binding, protein binding, 39 60 180 56 30 92 44 38 83 ENSG00000185168 chr17 81303771 81309248 - LINC00482 lincRNA 3 2 22 0 4 7 0 4 0 ENSG00000185176 chr2 240676418 240682906 - AQP12B protein_coding 653437 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0015267, channel activity, GO:0055085, transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000185177 chr7 57119614 57139864 - ZNF479 protein_coding 90827 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000185182 chr15 22427039 22437902 - GOLGA8DP transcribed_unprocessed_pseudogene 390535 0 0 0 0 0 0 0 0 0 ENSG00000185186 chr21 43462094 43479534 - LINC00313 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000185187 chr11 405716 417455 - SIGIRR protein_coding 59307 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0005515, protein binding, GO:0071345, GO:0043433, GO:0032682, GO:0031665, GO:0007165, GO:0006953, GO:0001960, cellular response to cytokine stimulus, negative regulation of DNA-binding transcription factor activity, negative regulation of chemokine production, negative regulation of lipopolysaccharide-mediated signaling pathway, signal transduction, acute-phase response, negative regulation of cytokine-mediated signaling pathway, 93 69 230 257 119 436 228 83 318 ENSG00000185189 chr8 143833594 143840974 - NRBP2 protein_coding 340371 GO:0012505, GO:0005737, GO:0005737, endomembrane system, cytoplasm, cytoplasm, GO:0005524, GO:0004674, ATP binding, protein serine/threonine kinase activity, GO:0043524, GO:0035556, GO:0030182, GO:0016242, GO:0006888, GO:0006468, negative regulation of neuron apoptotic process, intracellular signal transduction, neuron differentiation, negative regulation of macroautophagy, endoplasmic reticulum to Golgi vesicle-mediated transport, protein phosphorylation, 21 35 86 41 53 107 34 24 74 ENSG00000185198 chr19 685546 695498 - PRSS57 protein_coding This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016]. 400668 GO:0035578, GO:0005615, azurophil granule lumen, extracellular space, GO:0008236, GO:0008201, GO:0004252, serine-type peptidase activity, heparin binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 2 0 5 2 0 3 0 1 5 ENSG00000185201 chr11 307631 315272 + IFITM2 protein_coding 10581 GO:0032991, GO:0016021, GO:0005886, GO:0005886, protein-containing complex, integral component of membrane, plasma membrane, plasma membrane, GO:0060337, GO:0060337, GO:0051607, GO:0046597, GO:0046597, GO:0045071, GO:0045071, GO:0035456, GO:0035456, GO:0035455, GO:0035455, GO:0034341, GO:0034341, GO:0009615, GO:0006955, type I interferon signaling pathway, type I interferon signaling pathway, defense response to virus, negative regulation of viral entry into host cell, negative regulation of viral entry into host cell, negative regulation of viral genome replication, negative regulation of viral genome replication, response to interferon-beta, response to interferon-beta, response to interferon-alpha, response to interferon-alpha, response to interferon-gamma, response to interferon-gamma, response to virus, immune response, 21649 22873 21705 10994 25058 14963 14417 21571 15280 ENSG00000185203 chrX 156014623 156016837 - WASIR1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000185215 chr14 103123442 103137439 + TNFAIP2 protein_coding This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]. 7127 GO:0005615, GO:0000145, extracellular space, exocyst, GO:0005515, GO:0000149, protein binding, SNARE binding, GO:0051601, GO:0030154, GO:0006887, GO:0001525, exocyst localization, cell differentiation, exocytosis, angiogenesis, 26625 25762 43885 8700 15590 14940 12138 14339 14632 ENSG00000185219 chr3 44431720 44477670 - ZNF445 protein_coding 353274 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0010385, GO:0003682, GO:0001228, GO:0000978, metal ion binding, double-stranded methylated DNA binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000653, GO:0071517, GO:0045944, GO:0010216, GO:0006357, regulation of genetic imprinting, maintenance of imprinting at mating-type locus, positive regulation of transcription by RNA polymerase II, maintenance of DNA methylation, regulation of transcription by RNA polymerase II, 390 390 487 228 393 369 286 341 372 ENSG00000185220 chr1 248906196 248919946 + PGBD2 protein_coding The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 267002 GO:0043565, sequence-specific DNA binding, 35 46 48 55 37 39 24 43 42 ENSG00000185221 chr1 214870734 214871716 + GAPDHP24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185222 chrX 103356489 103358462 + TCEAL9 protein_coding The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]. 51186 GO:0005634, nucleus, GO:0050699, WW domain binding, 0 2 0 1 6 0 1 0 0 ENSG00000185231 chr18 13882044 13915707 - MC2R protein_coding MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]. 4158 GO:0005887, GO:0005886, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0005515, GO:0004978, GO:0004977, GO:0004930, protein binding, corticotropin receptor activity, melanocortin receptor activity, G protein-coupled receptor activity, GO:0019222, GO:0007218, GO:0007189, GO:0007189, GO:0007187, GO:0007186, GO:0001890, regulation of metabolic process, neuropeptide signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, placenta development, 0 0 0 0 0 0 0 0 0 ENSG00000185236 chr19 8389981 8404434 + RAB11B protein_coding The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010]. 9230 GO:0098993, GO:0070062, GO:0055038, GO:0055037, GO:0055037, GO:0045335, GO:0030670, GO:0008021, GO:0005829, GO:0005768, anchored component of synaptic vesicle membrane, extracellular exosome, recycling endosome membrane, recycling endosome, recycling endosome, phagocytic vesicle, phagocytic vesicle membrane, synaptic vesicle, cytosol, endosome, GO:0045296, GO:0031489, GO:0019003, GO:0005525, GO:0005515, GO:0003924, cadherin binding, myosin V binding, GDP binding, GTP binding, protein binding, GTPase activity, GO:2001135, GO:2000008, GO:1990126, GO:0150093, GO:0090150, GO:0071468, GO:0045055, GO:0045055, GO:0045054, GO:0045054, GO:0044070, GO:0043687, GO:0035773, GO:0033572, GO:0032402, GO:0006887, GO:0001881, regulation of endocytic recycling, regulation of protein localization to cell surface, retrograde transport, endosome to plasma membrane, amyloid-beta clearance by transcytosis, establishment of protein localization to membrane, cellular response to acidic pH, regulated exocytosis, regulated exocytosis, constitutive secretory pathway, constitutive secretory pathway, regulation of anion transport, post-translational protein modification, insulin secretion involved in cellular response to glucose stimulus, transferrin transport, melanosome transport, exocytosis, receptor recycling, 973 1041 1121 781 1113 919 921 909 766 ENSG00000185238 chr11 20387530 20509294 + PRMT3 protein_coding This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 10196 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0046872, GO:0043022, GO:0016274, GO:0016274, GO:0008168, GO:0005515, metal ion binding, ribosome binding, protein-arginine N-methyltransferase activity, protein-arginine N-methyltransferase activity, methyltransferase activity, protein binding, GO:0035246, GO:0031397, GO:0006479, peptidyl-arginine N-methylation, negative regulation of protein ubiquitination, protein methylation, 27 49 59 54 85 97 38 51 45 ENSG00000185245 chr17 4932297 4935030 + GP1BA protein_coding Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]. 2811 GO:0070062, GO:0031362, GO:0031362, GO:0031012, GO:0016020, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005615, extracellular exosome, anchored component of external side of plasma membrane, anchored component of external side of plasma membrane, extracellular matrix, membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0015057, GO:0005515, thrombin-activated receptor activity, protein binding, GO:0070527, GO:0070493, GO:0045652, GO:0042730, GO:0030193, GO:0030168, GO:0007597, GO:0007596, GO:0007596, GO:0007166, GO:0007155, GO:0000902, platelet aggregation, thrombin-activated receptor signaling pathway, regulation of megakaryocyte differentiation, fibrinolysis, regulation of blood coagulation, platelet activation, blood coagulation, intrinsic pathway, blood coagulation, blood coagulation, cell surface receptor signaling pathway, cell adhesion, cell morphogenesis, 65 88 72 30 89 54 52 83 64 ENSG00000185246 chr14 45084099 45116282 + PRPF39 protein_coding 55015 GO:0071004, GO:0005685, GO:0000243, U2-type prespliceosome, U1 snRNP, commitment complex, GO:0005515, protein binding, GO:0000395, mRNA 5'-splice site recognition, 95 96 165 142 93 201 120 78 112 ENSG00000185247 chrX 149688228 149717266 + MAGEA11 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 4110 GO:0016604, GO:0005829, GO:0005654, nuclear body, cytosol, nucleoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000185250 chr6 109390215 109441171 - PPIL6 protein_coding 285755 GO:0005737, cytoplasm, GO:0016018, GO:0005515, GO:0003755, cyclosporin A binding, protein binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 18 37 34 18 26 23 37 17 27 ENSG00000185252 chr22 20394115 20408461 + ZNF74 protein_coding 7625 GO:0015629, GO:0005654, GO:0005634, actin cytoskeleton, nucleoplasm, nucleus, GO:0046872, GO:0003723, GO:0000981, GO:0000978, metal ion binding, RNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007275, GO:0006357, GO:0006355, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 5 7 24 13 0 4 6 2 16 ENSG00000185261 chr5 94152966 94618597 - KIAA0825 protein_coding 285600 GO:0005515, protein binding, 251 181 369 158 223 269 253 208 259 ENSG00000185262 chr17 76265202 76271299 + UBALD2 protein_coding 283991 2671 2706 2720 1312 2050 1619 1672 2042 1615 ENSG00000185264 chr22 36991120 37007841 - TEX33 protein_coding 339669 0 0 0 0 0 0 0 0 0 ENSG00000185267 chr10 14819250 14838575 - CDNF protein_coding 441549 GO:0005783, GO:0005615, endoplasmic reticulum, extracellular space, GO:0008083, growth factor activity, GO:0071542, GO:0031175, GO:0007165, dopaminergic neuron differentiation, neuron projection development, signal transduction, 19 15 21 16 11 27 11 7 13 ENSG00000185269 chr17 81952507 81961840 - NOTUM protein_coding 147111 GO:0005788, GO:0005576, endoplasmic reticulum lumen, extracellular region, GO:1990699, GO:1990699, GO:0005515, GO:0004629, palmitoleyl hydrolase activity, palmitoleyl hydrolase activity, protein binding, phospholipase C activity, GO:1990697, GO:1990697, GO:0090090, GO:0044267, GO:0043687, GO:0030178, GO:0016055, protein depalmitoleylation, protein depalmitoleylation, negative regulation of canonical Wnt signaling pathway, cellular protein metabolic process, post-translational protein modification, negative regulation of Wnt signaling pathway, Wnt signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000185271 chr14 20425852 20436158 - KLHL33 protein_coding 123103 0 0 3 0 9 0 1 1 0 ENSG00000185272 chr21 14216130 14228372 + RBM11 protein_coding 54033 GO:0016607, GO:0005654, GO:0005634, GO:0005634, nuclear speck, nucleoplasm, nucleus, nucleus, GO:0042803, GO:0008266, GO:0005515, GO:0003727, protein homodimerization activity, poly(U) RNA binding, protein binding, single-stranded RNA binding, GO:0034599, GO:0030154, GO:0008380, GO:0007275, GO:0006397, GO:0000381, GO:0000381, cellular response to oxidative stress, cell differentiation, RNA splicing, multicellular organism development, mRNA processing, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 7 6 1 13 5 12 22 9 5 ENSG00000185274 chr7 71132169 71713600 + GALNT17 protein_coding This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]. 64409 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0046872, GO:0030246, GO:0004653, metal ion binding, carbohydrate binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0006486, protein glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000185275 chrY 18992467 18992709 - CD24P4 processed_pseudogene 0 0 3 0 0 0 0 2 0 ENSG00000185278 chr1 173868082 173903549 + ZBTB37 protein_coding 84614 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:1990837, GO:0046872, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1838 1940 2394 1060 1650 1812 1443 1293 1846 ENSG00000185290 chr7 56114681 56116400 - NUPR2 protein_coding 389493 GO:0005634, GO:0005634, nucleus, nucleus, GO:0071157, GO:0045786, GO:0009267, GO:0008285, GO:0008285, GO:0007050, GO:0006974, GO:0006357, GO:0000122, negative regulation of cell cycle arrest, negative regulation of cell cycle, cellular response to starvation, negative regulation of cell population proliferation, negative regulation of cell population proliferation, cell cycle arrest, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000185291 chrX 1336616 1382689 + IL3RA protein_coding The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]. 3563 GO:0043235, GO:0016021, GO:0009897, GO:0005886, receptor complex, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0019955, GO:0005515, GO:0004912, GO:0004896, cytokine binding, protein binding, interleukin-3 receptor activity, cytokine receptor activity, GO:0038156, GO:0036016, GO:0019221, GO:0019221, GO:0000165, interleukin-3-mediated signaling pathway, cellular response to interleukin-3, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000185294 chr17 45844835 45847072 + SPPL2C protein_coding 162540 GO:0071556, GO:0071556, GO:0071458, GO:0071458, GO:0030660, GO:0005789, GO:0005765, integral component of lumenal side of endoplasmic reticulum membrane, integral component of lumenal side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, Golgi-associated vesicle membrane, endoplasmic reticulum membrane, lysosomal membrane, GO:0042803, GO:0042500, GO:0005515, protein homodimerization activity, aspartic endopeptidase activity, intramembrane cleaving, protein binding, GO:0033619, GO:0031293, GO:0006509, membrane protein proteolysis, membrane protein intracellular domain proteolysis, membrane protein ectodomain proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000185296 chr5 17306381 17306960 + AC026785.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000185298 chr17 81666364 81673904 + CCDC137 protein_coding 339230 GO:0005730, GO:0005694, GO:0001650, nucleolus, chromosome, fibrillar center, GO:0005515, GO:0003723, protein binding, RNA binding, 56 67 58 92 79 78 80 56 40 ENSG00000185303 chr10 79555852 79560402 - SFTPA2 protein_coding This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]. 729238 GO:0045334, GO:0042599, GO:0005791, GO:0005789, GO:0005771, GO:0005615, GO:0005581, GO:0005576, clathrin-coated endocytic vesicle, lamellar body, rough endoplasmic reticulum, endoplasmic reticulum membrane, multivesicular body, extracellular space, collagen trimer, extracellular region, GO:0030246, GO:0005515, carbohydrate binding, protein binding, GO:0044267, GO:0007585, GO:0002224, cellular protein metabolic process, respiratory gaseous exchange by respiratory system, toll-like receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000185304 chr2 87755955 87825952 - RGPD2 protein_coding 729857 GO:0005737, GO:0005643, cytoplasm, nuclear pore, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0043547, GO:0006607, positive regulation of GTPase activity, NLS-bearing protein import into nucleus, 62 7 17 67 20 31 84 10 13 ENSG00000185305 chr5 53883945 54310582 - ARL15 protein_coding 54622 GO:0070062, extracellular exosome, GO:0005525, GO:0005515, GO:0003674, GTP binding, protein binding, molecular_function, GO:0008150, biological_process, 105 87 127 86 92 110 95 97 117 ENSG00000185306 chr12 64264762 64391192 - C12orf56 protein_coding 115749 0 0 0 0 0 0 0 0 0 ENSG00000185313 chr3 38696807 38816217 - SCN10A protein_coding The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 6336 GO:0099056, GO:0098978, GO:0071439, GO:0070062, GO:0030424, GO:0001518, GO:0001518, integral component of presynaptic membrane, glutamatergic synapse, clathrin complex, extracellular exosome, axon, voltage-gated sodium channel complex, voltage-gated sodium channel complex, GO:0044325, GO:0005248, GO:0005248, GO:0005244, ion channel binding, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0086043, GO:0086016, GO:0086010, GO:0060371, GO:0055117, GO:0042475, GO:0035725, GO:0035725, GO:0034765, GO:0019233, GO:0019228, GO:0007600, GO:0002027, bundle of His cell action potential, AV node cell action potential, membrane depolarization during action potential, regulation of atrial cardiac muscle cell membrane depolarization, regulation of cardiac muscle contraction, odontogenesis of dentin-containing tooth, sodium ion transmembrane transport, sodium ion transmembrane transport, regulation of ion transmembrane transport, sensory perception of pain, neuronal action potential, sensory perception, regulation of heart rate, 0 0 0 0 0 0 0 0 0 ENSG00000185319 chrX 52598494 52603289 + SSXP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185324 chr16 89680737 89696364 + CDK10 protein_coding The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 8558 GO:0036064, GO:0005737, GO:0005634, GO:0005634, ciliary basal body, cytoplasm, nucleus, nucleus, GO:0005524, GO:0005515, GO:0004693, GO:0004674, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:1902018, GO:0043410, GO:0032956, GO:0030030, GO:0018107, GO:0008285, GO:0007346, GO:0007089, GO:0006468, negative regulation of cilium assembly, positive regulation of MAPK cascade, regulation of actin cytoskeleton organization, cell projection organization, peptidyl-threonine phosphorylation, negative regulation of cell population proliferation, regulation of mitotic cell cycle, traversing start control point of mitotic cell cycle, protein phosphorylation, 71 60 89 241 167 177 261 129 191 ENSG00000185332 chr17 81311270 81330674 - TMEM105 protein_coding 284186 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000185338 chr16 11254405 11256200 - SOCS1 protein_coding This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]. 8651 GO:0036464, GO:0031410, GO:0005942, GO:0005829, GO:0005737, GO:0005654, cytoplasmic ribonucleoprotein granule, cytoplasmic vesicle, phosphatidylinositol 3-kinase complex, cytosol, cytoplasm, nucleoplasm, GO:0046935, GO:0019901, GO:0019210, GO:0005515, GO:0005159, GO:0004860, 1-phosphatidylinositol-3-kinase regulator activity, protein kinase binding, kinase inhibitor activity, protein binding, insulin-like growth factor receptor binding, protein kinase inhibitor activity, GO:0071230, GO:0060334, GO:0046854, GO:0046627, GO:0046426, GO:0046426, GO:0046426, GO:0045591, GO:0045444, GO:0043551, GO:0043377, GO:0043372, GO:0042532, GO:0042532, GO:0040008, GO:0038111, GO:0035556, GO:0019221, GO:0019221, GO:0016567, GO:0010533, GO:0007259, GO:0006469, GO:0001932, GO:0001817, cellular response to amino acid stimulus, regulation of interferon-gamma-mediated signaling pathway, phosphatidylinositol phosphorylation, negative regulation of insulin receptor signaling pathway, negative regulation of receptor signaling pathway via JAK-STAT, negative regulation of receptor signaling pathway via JAK-STAT, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of regulatory T cell differentiation, fat cell differentiation, regulation of phosphatidylinositol 3-kinase activity, negative regulation of CD8-positive, alpha-beta T cell differentiation, positive regulation of CD4-positive, alpha-beta T cell differentiation, negative regulation of tyrosine phosphorylation of STAT protein, negative regulation of tyrosine phosphorylation of STAT protein, regulation of growth, interleukin-7-mediated signaling pathway, intracellular signal transduction, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, protein ubiquitination, regulation of activation of Janus kinase activity, receptor signaling pathway via JAK-STAT, negative regulation of protein kinase activity, regulation of protein phosphorylation, regulation of cytokine production, 24 27 34 216 372 252 121 142 142 ENSG00000185339 chr22 30606838 30627278 + TCN2 protein_coding This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 6948 GO:0043202, GO:0005768, GO:0005615, GO:0005615, GO:0005576, lysosomal lumen, endosome, extracellular space, extracellular space, extracellular region, GO:0046872, GO:0031419, GO:0031419, GO:0005515, metal ion binding, cobalamin binding, cobalamin binding, protein binding, GO:0015889, GO:0015889, GO:0009235, GO:0006824, cobalamin transport, cobalamin transport, cobalamin metabolic process, cobalt ion transport, 0 2 3 1 0 6 3 0 2 ENSG00000185340 chr22 29306582 29312785 + GAS2L1 protein_coding This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. This protein localizes to the proximal end of mature centrioles and links centrosomes to both microtubules and actin. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, May 2018]. 10634 GO:0035371, GO:0005884, GO:0005737, microtubule plus-end, actin filament, cytoplasm, GO:0051015, GO:0046966, GO:0008093, GO:0008017, GO:0005515, actin filament binding, thyroid hormone receptor binding, cytoskeletal anchor activity, microtubule binding, protein binding, GO:1904825, GO:0097067, GO:0051764, GO:0031110, GO:0009267, GO:0007050, GO:0001578, GO:0000226, protein localization to microtubule plus-end, cellular response to thyroid hormone stimulus, actin crosslink formation, regulation of microtubule polymerization or depolymerization, cellular response to starvation, cell cycle arrest, microtubule bundle formation, microtubule cytoskeleton organization, 4 7 2 2 3 13 3 3 4 ENSG00000185344 chr12 123712318 123761755 + ATP6V0A2 protein_coding The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]. 23545 GO:0048471, GO:0030670, GO:0016471, GO:0016021, GO:0010008, GO:0005886, GO:0005765, GO:0001669, GO:0000220, perinuclear region of cytoplasm, phagocytic vesicle membrane, vacuolar proton-transporting V-type ATPase complex, integral component of membrane, endosome membrane, plasma membrane, lysosomal membrane, acrosomal vesicle, vacuolar proton-transporting V-type ATPase, V0 domain, GO:0051117, GO:0046961, GO:0005515, ATPase binding, proton-transporting ATPase activity, rotational mechanism, protein binding, GO:1902600, GO:0090383, GO:0036295, GO:0034220, GO:0033572, GO:0016241, GO:0008286, GO:0007035, GO:0006955, GO:0006879, proton transmembrane transport, phagosome acidification, cellular response to increased oxygen levels, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, vacuolar acidification, immune response, cellular iron ion homeostasis, 114 176 198 161 148 180 138 103 131 ENSG00000185345 chr6 161347420 162727771 - PRKN protein_coding The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]. 5071 GO:1990452, GO:0099073, GO:0098793, GO:0097413, GO:0048471, GO:0043005, GO:0019005, GO:0016607, GO:0016235, GO:0005829, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005794, GO:0005783, GO:0005783, GO:0005739, GO:0005739, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0000151, GO:0000151, Parkin-FBXW7-Cul1 ubiquitin ligase complex, mitochondrion-derived vesicle, presynapse, Lewy body, perinuclear region of cytoplasm, neuron projection, SCF ubiquitin ligase complex, nuclear speck, aggresome, cytosol, cytosol, cytosol, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, endoplasmic reticulum, mitochondrion, mitochondrion, mitochondrion, cytoplasm, cytoplasm, nucleus, ubiquitin ligase complex, ubiquitin ligase complex, GO:1990444, GO:1990381, GO:0097602, GO:0061630, GO:0061630, GO:0061630, GO:0061630, GO:0061630, GO:0051087, GO:0044877, GO:0043274, GO:0043130, GO:0042826, GO:0042802, GO:0031625, GO:0031624, GO:0031624, GO:0031624, GO:0031072, GO:0030544, GO:0030165, GO:0019901, GO:0019900, GO:0019899, GO:0017124, GO:0015631, GO:0008270, GO:0008013, GO:0005515, GO:0004842, GO:0004842, GO:0003779, GO:0003714, GO:0001664, F-box domain binding, ubiquitin-specific protease binding, cullin family protein binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, chaperone binding, protein-containing complex binding, phospholipase binding, ubiquitin binding, histone deacetylase binding, identical protein binding, ubiquitin protein ligase binding, ubiquitin conjugating enzyme binding, ubiquitin conjugating enzyme binding, ubiquitin conjugating enzyme binding, heat shock protein binding, Hsp70 protein binding, PDZ domain binding, protein kinase binding, kinase binding, enzyme binding, SH3 domain binding, tubulin binding, zinc ion binding, beta-catenin binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, actin binding, transcription corepressor activity, G protein-coupled receptor binding, GO:2000378, GO:2000377, GO:1905477, GO:1905477, GO:1905366, GO:1905281, GO:1904049, GO:1903861, GO:1903599, GO:1903542, GO:1903382, GO:1903377, GO:1903351, GO:1903265, GO:1903214, GO:1903202, GO:1903202, GO:1902803, GO:1902530, GO:1902283, GO:1902254, GO:1902236, GO:1902236, GO:1901800, GO:1901215, GO:1900407, GO:1900407, GO:1900407, GO:1900407, GO:0099074, GO:0098779, GO:0098779, GO:0097237, GO:0090201, GO:0090141, GO:0090090, GO:0090090, GO:0085020, GO:0085020, GO:0071287, GO:0070979, GO:0070936, GO:0070842, GO:0070585, GO:0070534, GO:0070534, GO:0070534, GO:0070050, GO:0061734, GO:0060828, GO:0060548, GO:0055069, GO:0051881, GO:0051865, GO:0051583, GO:0051582, GO:0050821, GO:0046676, GO:0046329, GO:0045944, GO:0045732, GO:0044828, GO:0044314, GO:0044267, GO:0044257, GO:0043524, GO:0043388, GO:0043161, GO:0043123, GO:0043123, GO:0042981, GO:0042417, GO:0042415, GO:0042053, GO:0036503, GO:0035519, GO:0035249, GO:0034976, GO:0034620, GO:0033132, GO:0032436, GO:0032436, GO:0032368, GO:0032232, GO:0032092, GO:0031648, GO:0031647, GO:0031396, GO:0031396, GO:0016579, GO:0016567, GO:0016567, GO:0016236, GO:0014059, GO:0010994, GO:0010906, GO:0010821, GO:0010821, GO:0010821, GO:0010821, GO:0010637, GO:0010636, GO:0010629, GO:0010628, GO:0010506, GO:0010498, GO:0008344, GO:0007612, GO:0007417, GO:0007005, GO:0006979, GO:0006513, GO:0006513, GO:0006511, GO:0006511, GO:0006511, GO:0006511, GO:0006511, GO:0001964, GO:0001933, GO:0001933, GO:0000423, GO:0000422, GO:0000422, GO:0000422, GO:0000266, GO:0000209, GO:0000209, GO:0000209, GO:0000122, negative regulation of reactive oxygen species metabolic process, regulation of reactive oxygen species metabolic process, positive regulation of protein localization to membrane, positive regulation of protein localization to membrane, negative regulation of intralumenal vesicle formation, positive regulation of retrograde transport, endosome to Golgi, negative regulation of spontaneous neurotransmitter secretion, positive regulation of dendrite extension, positive regulation of autophagy of mitochondrion, negative regulation of exosomal secretion, negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway, negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway, cellular response to dopamine, positive regulation of tumor necrosis factor-mediated signaling pathway, regulation of protein targeting to mitochondrion, negative regulation of oxidative stress-induced cell death, negative regulation of oxidative stress-induced cell death, regulation of synaptic vesicle transport, positive regulation of protein linear polyubiquitination, negative regulation of primary amine oxidase activity, negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, positive regulation of proteasomal protein catabolic process, negative regulation of neuron death, regulation of cellular response to oxidative stress, regulation of cellular response to oxidative stress, regulation of cellular response to oxidative stress, regulation of cellular response to oxidative stress, mitochondrion to lysosome transport, positive regulation of mitophagy in response to mitochondrial depolarization, positive regulation of mitophagy in response to mitochondrial depolarization, cellular response to toxic substance, negative regulation of release of cytochrome c from mitochondria, positive regulation of mitochondrial fission, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, protein K6-linked ubiquitination, protein K6-linked ubiquitination, cellular response to manganese ion, protein K11-linked ubiquitination, protein K48-linked ubiquitination, aggresome assembly, protein localization to mitochondrion, protein K63-linked ubiquitination, protein K63-linked ubiquitination, protein K63-linked ubiquitination, neuron cellular homeostasis, parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization, regulation of canonical Wnt signaling pathway, negative regulation of cell death, zinc ion homeostasis, regulation of mitochondrial membrane potential, protein autoubiquitination, dopamine uptake involved in synaptic transmission, positive regulation of neurotransmitter uptake, protein stabilization, negative regulation of insulin secretion, negative regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of protein catabolic process, negative regulation by host of viral genome replication, protein K27-linked ubiquitination, cellular protein metabolic process, cellular protein catabolic process, negative regulation of neuron apoptotic process, positive regulation of DNA binding, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, dopamine metabolic process, norepinephrine metabolic process, regulation of dopamine metabolic process, ERAD pathway, protein K29-linked ubiquitination, synaptic transmission, glutamatergic, response to endoplasmic reticulum stress, cellular response to unfolded protein, negative regulation of glucokinase activity, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of lipid transport, negative regulation of actin filament bundle assembly, positive regulation of protein binding, protein destabilization, regulation of protein stability, regulation of protein ubiquitination, regulation of protein ubiquitination, protein deubiquitination, protein ubiquitination, protein ubiquitination, macroautophagy, regulation of dopamine secretion, free ubiquitin chain polymerization, regulation of glucose metabolic process, regulation of mitochondrion organization, regulation of mitochondrion organization, regulation of mitochondrion organization, regulation of mitochondrion organization, negative regulation of mitochondrial fusion, positive regulation of mitochondrial fusion, negative regulation of gene expression, positive regulation of gene expression, regulation of autophagy, proteasomal protein catabolic process, adult locomotory behavior, learning, central nervous system development, mitochondrion organization, response to oxidative stress, protein monoubiquitination, protein monoubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, startle response, negative regulation of protein phosphorylation, negative regulation of protein phosphorylation, mitophagy, autophagy of mitochondrion, autophagy of mitochondrion, autophagy of mitochondrion, mitochondrial fission, protein polyubiquitination, protein polyubiquitination, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, 2 1 0 3 1 2 3 1 0 ENSG00000185347 chr14 105489855 105499575 + TEDC1 protein_coding 283643 GO:0005929, GO:0005814, GO:0005737, cilium, centriole, cytoplasm, GO:0005515, protein binding, GO:0045880, positive regulation of smoothened signaling pathway, 19 26 42 31 16 64 32 15 44 ENSG00000185352 chr13 96090839 96839562 + HS6ST3 protein_coding Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]. 266722 GO:0016021, integral component of membrane, GO:0017095, heparan sulfate 6-O-sulfotransferase activity, GO:0015015, heparan sulfate proteoglycan biosynthetic process, enzymatic modification, 0 0 0 0 0 0 0 0 0 ENSG00000185359 chr17 81683326 81703138 + HGS protein_coding The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]. 9146 GO:0070062, GO:0043231, GO:0033565, GO:0033565, GO:0032585, GO:0031901, GO:0005829, GO:0005829, GO:0005769, GO:0005768, GO:0005764, extracellular exosome, intracellular membrane-bounded organelle, ESCRT-0 complex, ESCRT-0 complex, multivesicular body membrane, early endosome membrane, cytosol, cytosol, early endosome, endosome, lysosome, GO:0046872, GO:0044389, GO:0019904, GO:0005515, metal ion binding, ubiquitin-like protein ligase binding, protein domain specific binding, protein binding, GO:1903543, GO:0072657, GO:0061024, GO:0046426, GO:0043405, GO:0042176, GO:0042059, GO:0036258, GO:0030948, GO:0016579, GO:0016525, GO:0016236, GO:0016197, GO:0016197, GO:0010642, GO:0010628, GO:0010324, GO:0008285, GO:0007165, GO:0006622, positive regulation of exosomal secretion, protein localization to membrane, membrane organization, negative regulation of receptor signaling pathway via JAK-STAT, regulation of MAP kinase activity, regulation of protein catabolic process, negative regulation of epidermal growth factor receptor signaling pathway, multivesicular body assembly, negative regulation of vascular endothelial growth factor receptor signaling pathway, protein deubiquitination, negative regulation of angiogenesis, macroautophagy, endosomal transport, endosomal transport, negative regulation of platelet-derived growth factor receptor signaling pathway, positive regulation of gene expression, membrane invagination, negative regulation of cell population proliferation, signal transduction, protein targeting to lysosome, 1382 1379 1287 1370 1927 1391 1429 1335 1080 ENSG00000185361 chr19 4639518 4655568 + TNFAIP8L1 protein_coding 126282 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0042981, GO:0032007, GO:0032007, regulation of apoptotic process, negative regulation of TOR signaling, negative regulation of TOR signaling, 20 27 112 28 11 30 48 15 26 ENSG00000185372 chr5 181123122 181131169 - OR2V1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26693 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000185379 chr17 35092208 35121522 - RAD51D protein_coding The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]. 5892 GO:0033063, GO:0033063, GO:0005813, GO:0005813, GO:0005737, GO:0005657, GO:0005657, GO:0005654, GO:0005634, GO:0000781, GO:0000781, Rad51B-Rad51C-Rad51D-XRCC2 complex, Rad51B-Rad51C-Rad51D-XRCC2 complex, centrosome, centrosome, cytoplasm, replication fork, replication fork, nucleoplasm, nucleus, chromosome, telomeric region, chromosome, telomeric region, GO:0043015, GO:0008094, GO:0008094, GO:0005524, GO:0005515, GO:0003697, GO:0003697, GO:0003677, GO:0000400, GO:0000400, gamma-tubulin binding, DNA-dependent ATPase activity, DNA-dependent ATPase activity, ATP binding, protein binding, single-stranded DNA binding, single-stranded DNA binding, DNA binding, four-way junction DNA binding, four-way junction DNA binding, GO:0051726, GO:0042148, GO:0042148, GO:0036297, GO:0007131, GO:0006281, GO:0000724, GO:0000724, GO:0000723, GO:0000723, regulation of cell cycle, strand invasion, strand invasion, interstrand cross-link repair, reciprocal meiotic recombination, DNA repair, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance, telomere maintenance, 6 11 18 40 18 48 28 12 25 ENSG00000185385 chr19 14878203 14886132 - OR7A17 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26333 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000185386 chr22 50263713 50270767 - MAPK11 protein_coding This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 5600 GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0004707, GO:0004707, GO:0004674, ATP binding, protein binding, MAP kinase activity, MAP kinase activity, protein serine/threonine kinase activity, GO:1901796, GO:0098586, GO:0071347, GO:0060044, GO:0051403, GO:0051149, GO:0051090, GO:0048010, GO:0045648, GO:0035556, GO:0032735, GO:0010628, GO:0010468, GO:0007265, GO:0000187, regulation of signal transduction by p53 class mediator, cellular response to virus, cellular response to interleukin-1, negative regulation of cardiac muscle cell proliferation, stress-activated MAPK cascade, positive regulation of muscle cell differentiation, regulation of DNA-binding transcription factor activity, vascular endothelial growth factor receptor signaling pathway, positive regulation of erythrocyte differentiation, intracellular signal transduction, positive regulation of interleukin-12 production, positive regulation of gene expression, regulation of gene expression, Ras protein signal transduction, activation of MAPK activity, 3 1 9 18 5 17 2 4 6 ENSG00000185390 chr21 13349265 13350648 + FGF7P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185404 chr2 230327184 230403732 + SP140L protein_coding 93349 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0003677, GO:0000981, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 132 145 239 255 173 275 225 145 203 ENSG00000185414 chr2 99181079 99197626 + MRPL30 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011]. 51263 GO:0005762, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, structural constituent of ribosome, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 31 25 34 60 35 41 77 23 48 ENSG00000185418 chr15 101653598 101724604 - TARSL2 protein_coding 123283 GO:0005737, GO:0005634, GO:0005575, cytoplasm, nucleus, cellular_component, GO:0005524, GO:0005515, GO:0004829, GO:0004829, GO:0003674, ATP binding, protein binding, threonine-tRNA ligase activity, threonine-tRNA ligase activity, molecular_function, GO:0008150, GO:0006435, GO:0006435, biological_process, threonyl-tRNA aminoacylation, threonyl-tRNA aminoacylation, 29 15 44 46 22 77 65 17 73 ENSG00000185420 chr1 245749342 246507312 - SMYD3 protein_coding This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 64754 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0018024, GO:0018024, GO:0018024, GO:0005515, GO:0001162, GO:0000993, GO:0000978, metal ion binding, histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, protein binding, RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding, RNA polymerase II complex binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071549, GO:0045944, GO:0045184, GO:0034968, GO:0033138, GO:0014904, GO:0006469, GO:0006334, cellular response to dexamethasone stimulus, positive regulation of transcription by RNA polymerase II, establishment of protein localization, histone lysine methylation, positive regulation of peptidyl-serine phosphorylation, myotube cell development, negative regulation of protein kinase activity, nucleosome assembly, 15 6 12 30 16 15 18 10 16 ENSG00000185432 chr12 50923472 50932517 + METTL7A protein_coding 25840 GO:1904724, GO:0016020, GO:0005811, GO:0005783, GO:0005576, tertiary granule lumen, membrane, lipid droplet, endoplasmic reticulum, extracellular region, GO:0008168, GO:0005515, methyltransferase activity, protein binding, GO:0043312, GO:0032259, neutrophil degranulation, methylation, 21 28 63 23 32 20 19 32 24 ENSG00000185433 chr21 25385820 25431701 - LINC00158 lincRNA 54072 0 0 0 0 0 0 0 0 0 ENSG00000185436 chr1 24154157 24187959 - IFNLR1 protein_coding The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 163702 GO:0032002, GO:0016021, GO:0016021, GO:0005886, GO:0005886, interleukin-28 receptor complex, integral component of membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004896, GO:0004896, protein binding, cytokine receptor activity, cytokine receptor activity, GO:0051607, GO:0050691, GO:0034342, GO:0019221, GO:0019221, GO:0008285, GO:0002385, defense response to virus, regulation of defense response to virus by host, response to type III interferon, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, negative regulation of cell population proliferation, mucosal immune response, 9 7 21 16 6 24 29 7 9 ENSG00000185437 chr21 39445855 39515506 + SH3BGR protein_coding 6450 GO:0005829, cytosol, GO:0017124, SH3 domain binding, GO:0065003, protein-containing complex assembly, 1 0 0 0 0 0 0 0 0 ENSG00000185442 chr15 92617443 92809884 - FAM174B protein_coding 400451 GO:0016021, GO:0005886, GO:0005794, integral component of membrane, plasma membrane, Golgi apparatus, GO:0007030, Golgi organization, 44 58 73 60 65 80 70 57 93 ENSG00000185448 chrX 34129756 34132314 - FAM47A protein_coding 158724 0 0 0 0 0 0 0 0 0 ENSG00000185453 chr19 48170692 48197620 + ZSWIM9 protein_coding 374920 GO:0005515, protein binding, 25 29 47 39 43 60 48 46 34 ENSG00000185467 chr7 99173574 99207506 - KPNA7 protein_coding The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]. 402569 GO:0005829, GO:0005819, GO:0005654, GO:0005654, GO:0005634, cytosol, spindle, nucleoplasm, nucleoplasm, nucleus, GO:0061608, GO:0008139, GO:0005515, nuclear import signal receptor activity, nuclear localization sequence binding, protein binding, GO:1902466, GO:0019054, GO:0010629, GO:0010628, GO:0006607, GO:0001824, positive regulation of histone H3-K27 trimethylation, modulation by virus of host cellular process, negative regulation of gene expression, positive regulation of gene expression, NLS-bearing protein import into nucleus, blastocyst development, 0 0 0 0 0 0 0 0 0 ENSG00000185475 chr11 62787415 62790405 + TMEM179B protein_coding 374395 GO:0101003, GO:0035577, GO:0030667, GO:0016607, GO:0016021, GO:0005886, GO:0005730, ficolin-1-rich granule membrane, azurophil granule membrane, secretory granule membrane, nuclear speck, integral component of membrane, plasma membrane, nucleolus, GO:0005515, protein binding, GO:0043312, neutrophil degranulation, 156 171 134 78 139 104 104 132 81 ENSG00000185477 chr4 89236386 89308010 - GPRIN3 protein_coding 285513 GO:0005886, plasma membrane, GO:0031175, neuron projection development, 263 154 416 377 94 364 357 93 242 ENSG00000185479 chr12 52446651 52452126 - KRT6B protein_coding The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. 3854 GO:0070062, GO:0045095, GO:0005829, extracellular exosome, keratin filament, cytosol, GO:0005515, GO:0005200, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0031424, GO:0007398, GO:0007010, cornification, keratinization, ectoderm development, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000185480 chr12 102120185 102197520 + PARPBP protein_coding 55010 GO:0005737, GO:0005654, GO:0000785, GO:0000785, cytoplasm, nucleoplasm, chromatin, chromatin, GO:0005515, GO:0003677, protein binding, DNA binding, GO:2000042, GO:2000042, GO:0006281, negative regulation of double-strand break repair via homologous recombination, negative regulation of double-strand break repair via homologous recombination, DNA repair, 7 5 5 3 8 5 9 4 4 ENSG00000185482 chr12 57243453 57251193 - STAC3 protein_coding The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]. 246329 GO:0045202, GO:0031234, GO:0031234, GO:0030315, GO:0005891, GO:0005829, GO:0005654, synapse, extrinsic component of cytoplasmic side of plasma membrane, extrinsic component of cytoplasmic side of plasma membrane, T-tubule, voltage-gated calcium channel complex, cytosol, nucleoplasm, GO:0046872, GO:0042802, GO:0005515, metal ion binding, identical protein binding, protein binding, GO:1903078, GO:1903078, GO:1901387, GO:1901387, GO:0048741, GO:0035556, GO:0007274, GO:0003009, GO:0003009, positive regulation of protein localization to plasma membrane, positive regulation of protein localization to plasma membrane, positive regulation of voltage-gated calcium channel activity, positive regulation of voltage-gated calcium channel activity, skeletal muscle fiber development, intracellular signal transduction, neuromuscular synaptic transmission, skeletal muscle contraction, skeletal muscle contraction, 21 8 11 38 28 31 32 22 28 ENSG00000185483 chr1 63774022 64181498 + ROR1 protein_coding This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012]. 4919 GO:0043679, GO:0043235, GO:0043235, GO:0009986, GO:0005887, GO:0005886, GO:0005737, GO:0001725, axon terminus, receptor complex, receptor complex, cell surface, integral component of plasma membrane, plasma membrane, cytoplasm, stress fiber, GO:1904929, GO:0042813, GO:0017147, GO:0017147, GO:0005524, GO:0005515, GO:0004714, coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway, Wnt-activated receptor activity, Wnt-protein binding, Wnt-protein binding, ATP binding, protein binding, transmembrane receptor protein tyrosine kinase activity, GO:0070374, GO:0060071, GO:0051092, GO:0048839, GO:0043410, GO:0043123, GO:0043123, GO:0033674, GO:0018108, GO:0014068, GO:0014002, GO:0010976, GO:0007605, GO:0007275, GO:0007169, positive regulation of ERK1 and ERK2 cascade, Wnt signaling pathway, planar cell polarity pathway, positive regulation of NF-kappaB transcription factor activity, inner ear development, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of kinase activity, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, astrocyte development, positive regulation of neuron projection development, sensory perception of sound, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, 0 0 0 0 0 6 0 0 0 ENSG00000185485 chr3 195959748 195990318 - SDHAP1 transcribed_unprocessed_pseudogene 255812 44 44 37 70 67 84 80 41 59 ENSG00000185495 chr1 223992743 224010612 + AC138393.1 transcribed_unprocessed_pseudogene 46 74 67 52 63 77 84 58 88 ENSG00000185499 chr1 155185824 155192916 - MUC1 protein_coding This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]. 4582 GO:0070062, GO:0070062, GO:0031982, GO:0016324, GO:0005887, GO:0005886, GO:0005886, GO:0005796, GO:0005615, GO:0000785, extracellular exosome, extracellular exosome, vesicle, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi lumen, extracellular space, chromatin, GO:0005515, GO:0003712, GO:0002039, GO:0000978, protein binding, transcription coregulator activity, p53 binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902166, GO:0090240, GO:0043618, GO:0036003, GO:0033629, GO:0019221, GO:0016266, GO:0010944, GO:0006978, GO:0006977, GO:0002223, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, positive regulation of histone H4 acetylation, regulation of transcription from RNA polymerase II promoter in response to stress, positive regulation of transcription from RNA polymerase II promoter in response to stress, negative regulation of cell adhesion mediated by integrin, cytokine-mediated signaling pathway, O-glycan processing, negative regulation of transcription by competitive promoter binding, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, stimulatory C-type lectin receptor signaling pathway, 8 9 9 24 9 7 13 3 11 ENSG00000185504 chr17 81539885 81553961 - FAAP100 protein_coding FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]. 80233 GO:0043240, GO:0005654, GO:0005654, GO:0005654, Fanconi anaemia nuclear complex, nucleoplasm, nucleoplasm, nucleoplasm, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0036297, interstrand cross-link repair, 74 89 92 127 122 105 84 74 91 ENSG00000185507 chr11 612553 615999 - IRF7 protein_coding IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. [provided by RefSeq, Jul 2008]. 3665 GO:0010008, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, endosome membrane, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000110, GO:0060340, GO:0060337, GO:0060333, GO:0051607, GO:0050776, GO:0045944, GO:0045893, GO:0045655, GO:0045087, GO:0039530, GO:0035666, GO:0034127, GO:0034124, GO:0032728, GO:0032728, GO:0032727, GO:0032727, GO:0032608, GO:0032607, GO:0032481, GO:0032479, GO:0019043, GO:0016064, GO:0009615, GO:0006974, GO:0006357, GO:0002819, GO:0002376, GO:0000122, negative regulation of macrophage apoptotic process, positive regulation of type I interferon-mediated signaling pathway, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, regulation of immune response, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of monocyte differentiation, innate immune response, MDA-5 signaling pathway, TRIF-dependent toll-like receptor signaling pathway, regulation of MyD88-independent toll-like receptor signaling pathway, regulation of MyD88-dependent toll-like receptor signaling pathway, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of interferon-alpha production, interferon-beta production, interferon-alpha production, positive regulation of type I interferon production, regulation of type I interferon production, establishment of viral latency, immunoglobulin mediated immune response, response to virus, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, regulation of adaptive immune response, immune system process, negative regulation of transcription by RNA polymerase II, 18 51 51 55 46 25 82 14 30 ENSG00000185513 chr20 43489442 43550950 + L3MBTL1 protein_coding This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]. 26013 GO:0005886, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000793, GO:0000785, plasma membrane, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, condensed chromosome, chromatin, GO:0042802, GO:0042393, GO:0042393, GO:0035064, GO:0035064, GO:0032093, GO:0031493, GO:0031491, GO:0008270, GO:0005515, GO:0003682, GO:0003682, identical protein binding, histone binding, histone binding, methylated histone binding, methylated histone binding, SAM domain binding, nucleosomal histone binding, nucleosome binding, zinc ion binding, protein binding, chromatin binding, chromatin binding, GO:1901796, GO:0051726, GO:0045892, GO:0045892, GO:0045892, GO:0045652, GO:0030097, GO:0007088, GO:0006325, regulation of signal transduction by p53 class mediator, regulation of cell cycle, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, hemopoiesis, regulation of mitotic nuclear division, chromatin organization, 20 41 46 69 38 57 37 29 45 ENSG00000185515 chrX 155071420 155123074 + BRCC3 protein_coding This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]. 79184 GO:0070552, GO:0070552, GO:0070531, GO:0070531, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000922, GO:0000152, GO:0000151, BRISC complex, BRISC complex, BRCA1-A complex, BRCA1-A complex, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, spindle pole, nuclear ubiquitin ligase complex, ubiquitin ligase complex, GO:0070122, GO:0061578, GO:0046872, GO:0031593, GO:0031593, GO:0030234, GO:0008237, GO:0008237, GO:0005515, GO:0004843, GO:0004843, isopeptidase activity, Lys63-specific deubiquitinase activity, metal ion binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, enzyme regulator activity, metallopeptidase activity, metallopeptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:0072425, GO:0070537, GO:0070537, GO:0070537, GO:0070536, GO:0070536, GO:0051301, GO:0050790, GO:0045739, GO:0016579, GO:0010212, GO:0010165, GO:0007049, GO:0006303, GO:0006302, GO:0006302, signal transduction involved in G2 DNA damage checkpoint, histone H2A K63-linked deubiquitination, histone H2A K63-linked deubiquitination, histone H2A K63-linked deubiquitination, protein K63-linked deubiquitination, protein K63-linked deubiquitination, cell division, regulation of catalytic activity, positive regulation of DNA repair, protein deubiquitination, response to ionizing radiation, response to X-ray, cell cycle, double-strand break repair via nonhomologous end joining, double-strand break repair, double-strand break repair, 83 95 103 54 85 89 65 49 56 ENSG00000185518 chr15 91099950 91301309 + SV2B protein_coding This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]. 9899 GO:0043005, GO:0030672, GO:0030672, GO:0016021, GO:0016020, GO:0008021, GO:0008021, GO:0005886, GO:0001669, neuron projection, synaptic vesicle membrane, synaptic vesicle membrane, integral component of membrane, membrane, synaptic vesicle, synaptic vesicle, plasma membrane, acrosomal vesicle, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, GO:0007268, GO:0006836, transmembrane transport, chemical synaptic transmission, neurotransmitter transport, 0 0 0 0 2 0 0 0 0 ENSG00000185519 chr1 16057769 16073632 - FAM131C protein_coding 348487 GO:0005515, protein binding, 1 0 0 0 0 0 0 0 0 ENSG00000185522 chr11 554855 560779 - LMNTD2 protein_coding 256329 GO:0005515, protein binding, 0 0 2 0 1 0 1 0 0 ENSG00000185523 chr1 212830141 212847649 - SPATA45 protein_coding 149643 2 1 2 0 1 0 3 1 0 ENSG00000185527 chr17 81650459 81663112 - PDE6G protein_coding This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]. 5148 GO:0097381, GO:0042622, GO:0005886, photoreceptor disc membrane, photoreceptor outer segment membrane, plasma membrane, GO:0047555, GO:0030553, GO:0030507, GO:0005515, GO:0004857, 3',5'-cyclic-GMP phosphodiesterase activity, cGMP binding, spectrin binding, protein binding, enzyme inhibitor activity, GO:0045745, GO:0045742, GO:0043086, GO:0022400, GO:0016056, GO:0007601, GO:0007223, GO:0000187, positive regulation of G protein-coupled receptor signaling pathway, positive regulation of epidermal growth factor receptor signaling pathway, negative regulation of catalytic activity, regulation of rhodopsin mediated signaling pathway, rhodopsin mediated signaling pathway, visual perception, Wnt signaling pathway, calcium modulating pathway, activation of MAPK activity, 2 5 4 0 7 0 3 1 8 ENSG00000185532 chr10 50990891 52298350 + PRKG1 protein_coding Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]. 5592 GO:0005886, GO:0005829, GO:0005794, GO:0005737, plasma membrane, cytosol, Golgi apparatus, cytoplasm, GO:0030553, GO:0005524, GO:0005515, GO:0005246, GO:0004692, GO:0004672, cGMP binding, ATP binding, protein binding, calcium channel regulator activity, cGMP-dependent protein kinase activity, protein kinase activity, GO:1904753, GO:1904706, GO:0090331, GO:0060087, GO:0043087, GO:0030900, GO:0030036, GO:0019934, GO:0016358, GO:0007165, GO:0006468, GO:0001764, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of platelet aggregation, relaxation of vascular associated smooth muscle, regulation of GTPase activity, forebrain development, actin cytoskeleton organization, cGMP-mediated signaling, dendrite development, signal transduction, protein phosphorylation, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000185551 chr15 96325938 96340263 + NR2F2 protein_coding This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 7026 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:0043565, GO:0042803, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0001972, GO:0001972, GO:0000978, sequence-specific DNA binding, protein homodimerization activity, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, retinoic acid binding, retinoic acid binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060707, GO:0060674, GO:0060173, GO:0048856, GO:0048514, GO:0045893, GO:0045893, GO:0045892, GO:0045736, GO:0032355, GO:0030900, GO:0030522, GO:0030154, GO:0010596, GO:0009956, GO:0009952, GO:0009566, GO:0007519, GO:0006357, GO:0003084, GO:0001937, GO:0001893, GO:0001764, GO:0000122, GO:0000122, trophoblast giant cell differentiation, placenta blood vessel development, limb development, anatomical structure development, blood vessel morphogenesis, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, response to estradiol, forebrain development, intracellular receptor signaling pathway, cell differentiation, negative regulation of endothelial cell migration, radial pattern formation, anterior/posterior pattern specification, fertilization, skeletal muscle tissue development, regulation of transcription by RNA polymerase II, positive regulation of systemic arterial blood pressure, negative regulation of endothelial cell proliferation, maternal placenta development, neuron migration, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000185559 chr14 100725705 100738224 + DLK1 protein_coding This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]. 8788 GO:0016021, GO:0016020, GO:0005737, GO:0005615, integral component of membrane, membrane, cytoplasm, extracellular space, GO:0005515, GO:0005509, GO:0003674, protein binding, calcium ion binding, molecular_function, GO:0045746, GO:0045746, GO:0030154, negative regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000185561 chr17 1702790 1710438 - TLCD2 protein_coding 727910 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0097035, GO:0097035, GO:0071709, GO:0071709, GO:0055091, GO:0055091, GO:0055088, GO:0007009, GO:0007009, regulation of membrane lipid distribution, regulation of membrane lipid distribution, membrane assembly, membrane assembly, phospholipid homeostasis, phospholipid homeostasis, lipid homeostasis, plasma membrane organization, plasma membrane organization, 0 0 0 0 0 0 0 0 0 ENSG00000185565 chr3 115802363 117139389 - LSAMP protein_coding This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 4045 GO:0031225, GO:0005886, GO:0005829, GO:0005576, anchored component of membrane, plasma membrane, cytosol, extracellular region, GO:0005515, protein binding, GO:0007399, GO:0007155, nervous system development, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000185567 chr14 104937244 104978357 - AHNAK2 protein_coding This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. 113146 GO:0043034, GO:0042383, GO:0030659, GO:0030315, GO:0030018, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, costamere, sarcolemma, cytoplasmic vesicle membrane, T-tubule, Z disc, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, GO:0005515, protein binding, GO:0043484, GO:0001778, regulation of RNA splicing, plasma membrane repair, 1 2 5 1 3 10 0 1 1 ENSG00000185585 chr9 124777158 124814885 + OLFML2A protein_coding 169611 GO:0031012, extracellular matrix, GO:0050840, GO:0042802, extracellular matrix binding, identical protein binding, GO:0030198, extracellular matrix organization, 1 0 0 2 0 0 0 0 0 ENSG00000185591 chr12 53380176 53416446 + SP1 protein_coding The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]. 6667 GO:0032993, GO:0017053, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000791, GO:0000785, GO:0000785, GO:0000785, protein-DNA complex, transcription repressor complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, euchromatin, chromatin, chromatin, chromatin, GO:1990837, GO:0071837, GO:0070491, GO:0046872, GO:0043565, GO:0043425, GO:0042826, GO:0042803, GO:0035035, GO:0008134, GO:0008022, GO:0005515, GO:0003700, GO:0003690, GO:0003677, GO:0001228, GO:0001103, GO:0000987, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, HMG box domain binding, repressing transcription factor binding, metal ion binding, sequence-specific DNA binding, bHLH transcription factor binding, histone deacetylase binding, protein homodimerization activity, histone acetyltransferase binding, transcription factor binding, protein C-terminus binding, protein binding, DNA-binding transcription factor activity, double-stranded DNA binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II repressing transcription factor binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1905564, GO:1904828, GO:1902004, GO:0048511, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0045766, GO:0045540, GO:0043923, GO:0043536, GO:0042795, GO:0033194, GO:0032869, GO:0016032, GO:0010628, GO:0006357, GO:0006355, positive regulation of vascular endothelial cell proliferation, positive regulation of hydrogen sulfide biosynthetic process, positive regulation of amyloid-beta formation, rhythmic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of angiogenesis, regulation of cholesterol biosynthetic process, positive regulation by host of viral transcription, positive regulation of blood vessel endothelial cell migration, snRNA transcription by RNA polymerase II, response to hydroperoxide, cellular response to insulin stimulus, viral process, positive regulation of gene expression, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 4667 4976 5751 1335 2768 2690 1924 2311 2345 ENSG00000185594 chr15 96783389 96785615 + SPATA8 protein_coding 145946 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000185596 chr15 101961603 101976543 + WASH3P transcribed_unprocessed_pseudogene 252 163 253 361 266 339 320 194 234 ENSG00000185607 chr15 43989061 43990184 - ACTBP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185608 chr22 19431902 19436075 + MRPL40 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]. 64976 GO:0005762, GO:0005761, GO:0005761, GO:0005743, GO:0005739, GO:0005730, GO:0005634, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, nucleolus, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0070126, GO:0070125, GO:0009653, mitochondrial translational termination, mitochondrial translational elongation, anatomical structure morphogenesis, 11 11 14 13 17 12 13 8 12 ENSG00000185610 chr12 45014672 45051099 - DBX2 protein_coding 440097 GO:0000785, chromatin, GO:0003677, GO:0000981, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000185614 chr3 49803254 49805030 + INKA1 protein_coding 389119 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0030291, GO:0030291, GO:0019901, GO:0019901, GO:0005515, protein serine/threonine kinase inhibitor activity, protein serine/threonine kinase inhibitor activity, protein kinase binding, protein kinase binding, protein binding, GO:0071901, negative regulation of protein serine/threonine kinase activity, 1 2 0 0 3 0 2 1 5 ENSG00000185615 chr16 283152 287215 + PDIA2 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. The encoded protein also possesses estradiol-binding activity and can modulate intracellular estradiol levels. [provided by RefSeq, Sep 2017]. 64714 GO:0005788, GO:0005783, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0015037, GO:0015036, GO:0005515, GO:0005496, GO:0003756, peptide disulfide oxidoreductase activity, disulfide oxidoreductase activity, protein binding, steroid binding, protein disulfide isomerase activity, GO:0055114, GO:0034976, GO:0034975, GO:0006621, GO:0006457, oxidation-reduction process, response to endoplasmic reticulum stress, protein folding in endoplasmic reticulum, protein retention in ER lumen, protein folding, 0 1 3 5 0 0 0 0 0 ENSG00000185619 chr4 705748 770640 + PCGF3 protein_coding The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008]. 10336 GO:0035102, GO:0031519, GO:0005654, GO:0005634, GO:0000805, PRC1 complex, PcG protein complex, nucleoplasm, nucleus, X chromosome, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0060819, GO:0036353, GO:0036353, GO:0006357, inactivation of X chromosome by genetic imprinting, histone H2A-K119 monoubiquitination, histone H2A-K119 monoubiquitination, regulation of transcription by RNA polymerase II, 995 1089 1012 1113 1526 1176 1333 1060 987 ENSG00000185621 chr3 197960200 198043720 + LMLN protein_coding This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. 89782 GO:0016020, GO:0005925, GO:0005829, GO:0005811, GO:0005737, membrane, focal adhesion, cytosol, lipid droplet, cytoplasm, GO:0046872, GO:0008233, GO:0004222, metal ion binding, peptidase activity, metalloendopeptidase activity, GO:0051301, GO:0007155, GO:0007049, GO:0006508, cell division, cell adhesion, cell cycle, proteolysis, 14 24 20 30 21 28 45 15 20 ENSG00000185624 chr17 81843159 81860694 - P4HB protein_coding This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]. 5034 GO:0070062, GO:0042470, GO:0034663, GO:0032991, GO:0030027, GO:0016222, GO:0009897, GO:0009897, GO:0005925, GO:0005856, GO:0005829, GO:0005793, GO:0005788, GO:0005783, GO:0005783, GO:0005576, extracellular exosome, melanosome, endoplasmic reticulum chaperone complex, protein-containing complex, lamellipodium, procollagen-proline 4-dioxygenase complex, external side of plasma membrane, external side of plasma membrane, focal adhesion, cytoskeleton, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum lumen, endoplasmic reticulum, endoplasmic reticulum, extracellular region, GO:0046982, GO:0019899, GO:0016972, GO:0015037, GO:0005515, GO:0005178, GO:0004656, GO:0003779, GO:0003756, GO:0003756, GO:0003756, GO:0003723, protein heterodimerization activity, enzyme binding, thiol oxidase activity, peptide disulfide oxidoreductase activity, protein binding, integrin binding, procollagen-proline 4-dioxygenase activity, actin binding, protein disulfide isomerase activity, protein disulfide isomerase activity, protein disulfide isomerase activity, RNA binding, GO:1902175, GO:1900026, GO:0098761, GO:0071456, GO:0055114, GO:0046598, GO:0045785, GO:0044267, GO:0043687, GO:0038155, GO:0035722, GO:0034976, GO:0034976, GO:0034379, GO:0034378, GO:0018401, GO:0006457, regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, positive regulation of substrate adhesion-dependent cell spreading, cellular response to interleukin-7, cellular response to hypoxia, oxidation-reduction process, positive regulation of viral entry into host cell, positive regulation of cell adhesion, cellular protein metabolic process, post-translational protein modification, interleukin-23-mediated signaling pathway, interleukin-12-mediated signaling pathway, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, very-low-density lipoprotein particle assembly, chylomicron assembly, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, protein folding, 1088 1272 1648 1670 1655 2293 1834 1565 1973 ENSG00000185627 chr11 236546 252984 + PSMD13 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 5719 GO:1904813, GO:0034774, GO:0022624, GO:0016020, GO:0008541, GO:0005838, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, secretory granule lumen, proteasome accessory complex, membrane, proteasome regulatory particle, lid subcomplex, proteasome regulatory particle, cytosol, cytosol, nucleoplasm, nucleus, nucleus, extracellular region, proteasome complex, GO:0005198, structural molecule activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043312, GO:0043248, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0007127, GO:0006521, GO:0006511, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome assembly, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, meiosis I, regulation of cellular amino acid metabolic process, ubiquitin-dependent protein catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 1039 954 1064 748 772 807 687 690 642 ENSG00000185630 chr1 164555584 164899296 + PBX1 protein_coding This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]. 5087 GO:0090575, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048706, GO:0048666, GO:0048568, GO:0048538, GO:0048536, GO:0045665, GO:0035162, GO:0035019, GO:0030326, GO:0030325, GO:0030278, GO:0010971, GO:0009954, GO:0009952, GO:0009887, GO:0008284, GO:0007548, GO:0007420, GO:0007221, GO:0006694, GO:0006357, GO:0001658, GO:0001654, embryonic skeletal system development, neuron development, embryonic organ development, thymus development, spleen development, negative regulation of neuron differentiation, embryonic hemopoiesis, somatic stem cell population maintenance, embryonic limb morphogenesis, adrenal gland development, regulation of ossification, positive regulation of G2/M transition of mitotic cell cycle, proximal/distal pattern formation, anterior/posterior pattern specification, animal organ morphogenesis, positive regulation of cell population proliferation, sex differentiation, brain development, positive regulation of transcription of Notch receptor target, steroid biosynthetic process, regulation of transcription by RNA polymerase II, branching involved in ureteric bud morphogenesis, eye development, 1 8 0 2 0 0 7 0 3 ENSG00000185631 chr2 128203361 128203775 + AC017079.1 processed_pseudogene 1 2 0 0 2 0 0 0 0 ENSG00000185633 chr12 57234903 57240715 - NDUFA4L2 protein_coding 56901 GO:0005751, mitochondrial respiratory chain complex IV, GO:0004129, cytochrome-c oxidase activity, GO:1902600, GO:0022900, proton transmembrane transport, electron transport chain, 0 0 0 2 0 0 1 0 4 ENSG00000185634 chr15 48823735 48963444 - SHC4 protein_coding 399694 GO:0045211, GO:0005886, postsynaptic membrane, plasma membrane, GO:0030971, GO:0019904, GO:0019901, GO:0005515, receptor tyrosine kinase binding, protein domain specific binding, protein kinase binding, protein binding, GO:0048863, GO:0035556, GO:0010468, GO:0008284, GO:0007169, GO:0006915, stem cell differentiation, intracellular signal transduction, regulation of gene expression, positive regulation of cell population proliferation, transmembrane receptor protein tyrosine kinase signaling pathway, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000185638 chrX 34147036 34147586 + FTH1P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185640 chr12 52821410 52834295 - KRT79 protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]. 338785 GO:0070062, GO:0045095, GO:0005829, extracellular exosome, keratin filament, cytosol, GO:0019899, GO:0005515, enzyme binding, protein binding, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000185641 chr5 116051917 116052289 - AC034236.1 processed_pseudogene 41 17 24 48 50 84 59 31 57 ENSG00000185650 chr14 68787660 68796253 - ZFP36L1 protein_coding This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 677 GO:1990904, GO:0005829, GO:0005737, GO:0005634, GO:0000932, ribonucleoprotein complex, cytosol, cytoplasm, nucleus, P-body, GO:0071889, GO:0046872, GO:0035925, GO:0005515, GO:0003729, GO:0003723, GO:0003677, 14-3-3 protein binding, metal ion binding, mRNA 3'-UTR AU-rich region binding, protein binding, mRNA binding, RNA binding, DNA binding, GO:1904582, GO:1902172, GO:1901991, GO:1900153, GO:0097403, GO:0072091, GO:0071560, GO:0071472, GO:0071456, GO:0071385, GO:0071375, GO:0071364, GO:0071356, GO:0071320, GO:0070371, GO:0061158, GO:0061158, GO:0060710, GO:0051028, GO:0048382, GO:0045661, GO:0045657, GO:0045647, GO:0045616, GO:0045600, GO:0045577, GO:0044344, GO:0043491, GO:0043488, GO:0043488, GO:0043488, GO:0038066, GO:0035264, GO:0033077, GO:0032869, GO:0031440, GO:0031086, GO:0021915, GO:0014065, GO:0010837, GO:0010468, GO:0009611, GO:0008283, GO:0007507, GO:0006915, GO:0006397, GO:0003342, GO:0001570, GO:0000288, GO:0000165, positive regulation of intracellular mRNA localization, regulation of keratinocyte apoptotic process, negative regulation of mitotic cell cycle phase transition, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, cellular response to raffinose, regulation of stem cell proliferation, cellular response to transforming growth factor beta stimulus, cellular response to salt stress, cellular response to hypoxia, cellular response to glucocorticoid stimulus, cellular response to peptide hormone stimulus, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, cellular response to cAMP, ERK1 and ERK2 cascade, 3'-UTR-mediated mRNA destabilization, 3'-UTR-mediated mRNA destabilization, chorio-allantoic fusion, mRNA transport, mesendoderm development, regulation of myoblast differentiation, positive regulation of monocyte differentiation, negative regulation of erythrocyte differentiation, regulation of keratinocyte differentiation, positive regulation of fat cell differentiation, regulation of B cell differentiation, cellular response to fibroblast growth factor stimulus, protein kinase B signaling, regulation of mRNA stability, regulation of mRNA stability, regulation of mRNA stability, p38MAPK cascade, multicellular organism growth, T cell differentiation in thymus, cellular response to insulin stimulus, regulation of mRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, deadenylation-independent decay, neural tube development, phosphatidylinositol 3-kinase signaling, regulation of keratinocyte proliferation, regulation of gene expression, response to wounding, cell population proliferation, heart development, apoptotic process, mRNA processing, proepicardium development, vasculogenesis, nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, MAPK cascade, 9748 13621 21572 3357 8662 6718 5439 8401 6686 ENSG00000185651 chr22 21549447 21624034 + UBE2L3 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]. 7332 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000151, GO:0000151, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, ubiquitin ligase complex, GO:0097027, GO:0061631, GO:0061631, GO:0031625, GO:0031625, GO:0019899, GO:0005524, GO:0005515, GO:0004842, GO:0004842, GO:0004842, GO:0003723, GO:0003713, ubiquitin-protein transferase activator activity, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ubiquitin protein ligase binding, enzyme binding, ATP binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, RNA binding, transcription coactivator activity, GO:1903955, GO:1903508, GO:0071385, GO:0071383, GO:0070979, GO:0070979, GO:0051443, GO:0044770, GO:0031398, GO:0016567, GO:0016567, GO:0008283, GO:0006511, GO:0006511, GO:0006464, GO:0006355, GO:0006355, GO:0000209, GO:0000209, positive regulation of protein targeting to mitochondrion, positive regulation of nucleic acid-templated transcription, cellular response to glucocorticoid stimulus, cellular response to steroid hormone stimulus, protein K11-linked ubiquitination, protein K11-linked ubiquitination, positive regulation of ubiquitin-protein transferase activity, cell cycle phase transition, positive regulation of protein ubiquitination, protein ubiquitination, protein ubiquitination, cell population proliferation, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, cellular protein modification process, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, protein polyubiquitination, protein polyubiquitination, 268 280 350 167 316 298 229 238 246 ENSG00000185652 chr12 5432112 5521536 + NTF3 protein_coding The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008]. 4908 GO:0030425, GO:0030424, GO:0008021, GO:0005615, GO:0005576, dendrite, axon, synaptic vesicle, extracellular space, extracellular region, GO:0042056, GO:0008083, GO:0008083, GO:0005515, GO:0005163, GO:0005102, chemoattractant activity, growth factor activity, growth factor activity, protein binding, nerve growth factor receptor binding, signaling receptor binding, GO:2000251, GO:0090630, GO:0051388, GO:0050930, GO:0050918, GO:0050804, GO:0050732, GO:0050731, GO:0048812, GO:0045664, GO:0043524, GO:0042981, GO:0038180, GO:0033138, GO:0033138, GO:0032148, GO:0030335, GO:0021675, GO:0014068, GO:0010863, GO:0008284, GO:0007613, GO:0007422, GO:0007399, GO:0007267, GO:0007169, GO:0007169, GO:0007165, GO:0002092, GO:0000187, positive regulation of actin cytoskeleton reorganization, activation of GTPase activity, positive regulation of neurotrophin TRK receptor signaling pathway, induction of positive chemotaxis, positive chemotaxis, modulation of chemical synaptic transmission, negative regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, neuron projection morphogenesis, regulation of neuron differentiation, negative regulation of neuron apoptotic process, regulation of apoptotic process, nerve growth factor signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of peptidyl-serine phosphorylation, activation of protein kinase B activity, positive regulation of cell migration, nerve development, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phospholipase C activity, positive regulation of cell population proliferation, memory, peripheral nervous system development, nervous system development, cell-cell signaling, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, positive regulation of receptor internalization, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000185658 chr21 39184176 39321559 - BRWD1 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]. 54014 GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleolus, nucleoplasm, nucleus, nucleus, GO:0003674, molecular_function, GO:0038111, GO:0008360, GO:0008360, GO:0007010, GO:0007010, GO:0006357, GO:0006325, interleukin-7-mediated signaling pathway, regulation of cell shape, regulation of cell shape, cytoskeleton organization, cytoskeleton organization, regulation of transcription by RNA polymerase II, chromatin organization, 1081 1222 1263 774 1177 1316 1025 899 1060 ENSG00000185662 chr5 171782432 171796126 + SMIM23 protein_coding 644994 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 1 2 0 1 8 0 2 2 1 ENSG00000185664 chr12 55954105 55973317 - PMEL protein_coding This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]. 6490 GO:0042470, GO:0042470, GO:0032585, GO:0005887, GO:0005886, GO:0005794, GO:0005789, GO:0005783, GO:0005576, melanosome, melanosome, multivesicular body membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, extracellular region, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0042438, GO:0032438, GO:0032438, melanin biosynthetic process, melanosome organization, melanosome organization, 65 42 58 63 68 37 57 47 47 ENSG00000185666 chr22 32512552 33058372 - SYN3 protein_coding This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]. 8224 GO:0030672, GO:0014069, GO:0008021, synaptic vesicle membrane, postsynaptic density, synaptic vesicle, GO:0005524, ATP binding, GO:0032228, GO:0007269, regulation of synaptic transmission, GABAergic, neurotransmitter secretion, 0 0 0 0 2 0 0 1 0 ENSG00000185668 chr1 38044611 38046794 - POU3F1 protein_coding 5453 GO:0005667, GO:0005654, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0043565, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045893, GO:0030900, GO:0030216, GO:0022011, GO:0010628, GO:0008366, GO:0006357, positive regulation of transcription, DNA-templated, forebrain development, keratinocyte differentiation, myelination in peripheral nervous system, positive regulation of gene expression, axon ensheathment, regulation of transcription by RNA polymerase II, 2 0 0 0 2 0 0 2 0 ENSG00000185669 chr16 88677682 88686493 - SNAI3 protein_coding SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009]. 333929 GO:0005667, GO:0000785, transcription regulator complex, chromatin, GO:1990837, GO:0005507, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, copper ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006355, GO:0000122, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 129 116 165 56 109 61 52 100 81 ENSG00000185670 chr11 62748319 62754188 - ZBTB3 protein_coding 79842 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 11 12 16 9 7 6 14 11 16 ENSG00000185674 chr2 99242246 99255282 - LYG2 protein_coding The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq, Jul 2008]. 254773 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0005515, GO:0003796, GO:0003796, protein binding, lysozyme activity, lysozyme activity, GO:0050830, GO:0050830, GO:0042742, GO:0016998, GO:0009253, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to bacterium, cell wall macromolecule catabolic process, peptidoglycan catabolic process, 0 3 0 0 0 0 0 0 2 ENSG00000185681 chr9 122159908 122200088 + MORN5 protein_coding 254956 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000185684 chr12 132084283 132131639 + EP400P1 transcribed_unprocessed_pseudogene 36 44 45 93 48 80 92 39 38 ENSG00000185686 chr22 22547701 22559361 - PRAME protein_coding This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 23532 GO:0005886, GO:0005737, GO:0005654, plasma membrane, cytoplasm, nucleoplasm, GO:0042974, GO:0042974, GO:0005515, retinoic acid receptor binding, retinoic acid receptor binding, protein binding, GO:0048387, GO:0045892, GO:0045596, GO:0043066, GO:0040008, GO:0030154, GO:0008284, GO:0006915, negative regulation of retinoic acid receptor signaling pathway, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, regulation of growth, cell differentiation, positive regulation of cell population proliferation, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000185689 chr6 4079206 4130951 + C6orf201 protein_coding 404220 6 0 8 8 4 25 19 9 14 ENSG00000185697 chr8 66562175 66614247 - MYBL1 protein_coding 4603 GO:0005654, GO:0005634, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, nucleus, GO:0001228, GO:0001228, GO:0000981, GO:0000978, GO:0000978, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990511, GO:0045944, GO:0045944, GO:0045944, GO:0045893, GO:0030154, GO:0010529, GO:0007283, GO:0007141, GO:0006355, GO:0000278, piRNA biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, cell differentiation, negative regulation of transposition, spermatogenesis, male meiosis I, regulation of transcription, DNA-templated, mitotic cell cycle, 121 55 145 298 88 451 297 72 265 ENSG00000185700 chrY 6470773 6473630 - TTTY8B lincRNA 100101118 0 0 0 0 0 0 0 0 0 ENSG00000185701 chr11 56526568 56527503 - OR5M5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185710 chr16 21879338 21919156 - SMG1P4 transcribed_unprocessed_pseudogene 5 0 11 16 0 8 9 1 5 ENSG00000185716 chr16 22007638 22087534 + MOSMO protein_coding 730094 GO:0060170, GO:0060170, GO:0016021, GO:0005886, GO:0005794, GO:0005794, ciliary membrane, ciliary membrane, integral component of membrane, plasma membrane, Golgi apparatus, Golgi apparatus, GO:0045879, GO:0045879, GO:0045664, GO:0031647, negative regulation of smoothened signaling pathway, negative regulation of smoothened signaling pathway, regulation of neuron differentiation, regulation of protein stability, 54 48 77 54 34 57 42 27 59 ENSG00000185721 chr22 31399523 31530634 + DRG1 protein_coding 4733 GO:0016604, GO:0016020, GO:0005844, GO:0005829, GO:0005737, GO:0005737, GO:0005634, nuclear body, membrane, polysome, cytosol, cytoplasm, cytoplasm, nucleus, GO:0042802, GO:0030955, GO:0008134, GO:0008017, GO:0005525, GO:0005515, GO:0003924, identical protein binding, potassium ion binding, transcription factor binding, microtubule binding, GTP binding, protein binding, GTPase activity, GO:1901673, GO:0031116, GO:0007275, GO:0006351, GO:0002181, regulation of mitotic spindle assembly, positive regulation of microtubule polymerization, multicellular organism development, transcription, DNA-templated, cytoplasmic translation, 56 47 58 64 57 73 54 55 65 ENSG00000185722 chr17 4163907 4263995 - ANKFY1 protein_coding This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]. 51479 GO:0070062, GO:0044354, GO:0043231, GO:0030904, GO:0016020, GO:0010008, GO:0005829, GO:0005769, GO:0005768, GO:0005765, extracellular exosome, macropinosome, intracellular membrane-bounded organelle, retromer complex, membrane, endosome membrane, cytosol, early endosome, endosome, lysosomal membrane, GO:1901981, GO:0046872, GO:0031267, GO:0005515, phosphatidylinositol phosphate binding, metal ion binding, small GTPase binding, protein binding, GO:0090160, GO:0048549, GO:0042147, GO:0034058, GO:0016197, GO:0006897, Golgi to lysosome transport, positive regulation of pinocytosis, retrograde transport, endosome to Golgi, endosomal vesicle fusion, endosomal transport, endocytosis, 779 717 821 718 936 712 775 607 566 ENSG00000185728 chr8 63168553 63212786 + YTHDF3 protein_coding This gene encodes a member of the YTH (YT521-B homology) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. 253943 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:1990247, GO:1990247, GO:0043022, GO:0005515, GO:0003729, GO:0003723, N6-methyladenosine-containing RNA binding, N6-methyladenosine-containing RNA binding, ribosome binding, protein binding, mRNA binding, RNA binding, GO:0061157, GO:0061157, GO:0060339, GO:0045948, GO:0045948, GO:0045727, mRNA destabilization, mRNA destabilization, negative regulation of type I interferon-mediated signaling pathway, positive regulation of translational initiation, positive regulation of translational initiation, positive regulation of translation, 3529 3321 5189 2040 2288 3324 2268 1726 2492 ENSG00000185730 chr8 143289676 143298061 + ZNF696 protein_coding 79943 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 5 12 5 18 7 4 7 9 14 ENSG00000185736 chr10 1177318 1737476 - ADARB2 protein_coding This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]. 105 GO:0005737, GO:0005730, cytoplasm, nucleolus, GO:0046872, GO:0008251, GO:0004000, GO:0003727, GO:0003726, GO:0003725, GO:0003723, metal ion binding, tRNA-specific adenosine deaminase activity, adenosine deaminase activity, single-stranded RNA binding, double-stranded RNA adenosine deaminase activity, double-stranded RNA binding, RNA binding, GO:0006397, GO:0006396, GO:0006382, mRNA processing, RNA processing, adenosine to inosine editing, 0 98 0 0 53 2 0 53 0 ENSG00000185737 chr10 81875314 82987179 + NRG3 protein_coding This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]. 10718 GO:0098978, GO:0005887, GO:0005615, GO:0005576, glutamatergic synapse, integral component of plasma membrane, extracellular space, extracellular region, GO:0045499, GO:0030971, GO:0030297, GO:0008083, GO:0005102, chemorepellent activity, receptor tyrosine kinase binding, transmembrane receptor protein tyrosine kinase activator activity, growth factor activity, signaling receptor binding, GO:2001223, GO:0060596, GO:0050804, GO:0048513, GO:0035556, GO:0021842, GO:0007389, GO:0007171, GO:0001558, negative regulation of neuron migration, mammary placode formation, modulation of chemical synaptic transmission, animal organ development, intracellular signal transduction, chemorepulsion involved in interneuron migration from the subpallium to the cortex, pattern specification process, activation of transmembrane receptor protein tyrosine kinase activity, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000185739 chr16 4189374 4242080 - SRL protein_coding 6345 GO:0043231, GO:0033018, GO:0033017, GO:0005886, GO:0005737, intracellular membrane-bounded organelle, sarcoplasmic reticulum lumen, sarcoplasmic reticulum membrane, plasma membrane, cytoplasm, GO:0005525, GTP binding, GO:0016197, GO:0006897, endosomal transport, endocytosis, 0 0 0 4 1 0 0 0 0 ENSG00000185742 chr11 109422120 109429114 + C11orf87 protein_coding 399947 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000185745 chr10 89392546 89406486 + IFIT1 protein_coding This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]. 3434 GO:0043657, GO:0005829, GO:0005829, GO:0005829, GO:0005737, host cell, cytosol, cytosol, cytosol, cytoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0071360, GO:0071357, GO:0060337, GO:0051607, GO:0051097, GO:0050688, GO:0045071, GO:0045070, GO:0032091, GO:0019060, GO:0016032, GO:0009615, GO:0009615, cellular response to exogenous dsRNA, cellular response to type I interferon, type I interferon signaling pathway, defense response to virus, negative regulation of helicase activity, regulation of defense response to virus, negative regulation of viral genome replication, positive regulation of viral genome replication, negative regulation of protein binding, intracellular transport of viral protein in host cell, viral process, response to virus, response to virus, 613 700 974 216 477 398 244 406 410 ENSG00000185753 chrX 40626921 40647554 - CXorf38 protein_coding 159013 GO:0005515, protein binding, 786 540 908 212 423 353 285 358 311 ENSG00000185758 chr4 183321764 183322426 - CLDN24 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is 75% identical to the mouse homolog. This gene is upstream of the CLDN22 gene, which overlaps the WWC2 gene on the opposite strand in the genome.[provided by RefSeq, Aug 2010]. 100132463 GO:0016021, GO:0005923, GO:0005886, integral component of membrane, bicellular tight junction, plasma membrane, GO:0005198, structural molecule activity, GO:0070830, GO:0007155, bicellular tight junction assembly, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000185760 chr6 72621792 73198851 + KCNQ5 protein_coding This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 56479 GO:0030118, GO:0016021, GO:0008076, GO:0008076, GO:0005887, GO:0005886, clathrin coat, integral component of membrane, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:0005516, GO:0005515, GO:0005251, GO:0005249, GO:0005249, GO:0005249, calmodulin binding, protein binding, delayed rectifier potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, voltage-gated potassium channel activity, GO:0071805, GO:0071805, GO:0071805, GO:0034765, potassium ion transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, regulation of ion transmembrane transport, 0 5 4 17 6 24 12 5 12 ENSG00000185761 chr19 1505018 1513604 - ADAMTSL5 protein_coding 339366 GO:0031012, GO:0031012, GO:0005576, GO:0001527, GO:0001527, extracellular matrix, extracellular matrix, extracellular region, microfibril, microfibril, GO:0008201, GO:0005515, GO:0004222, heparin binding, protein binding, metalloendopeptidase activity, GO:0030198, GO:0006508, extracellular matrix organization, proteolysis, 1 1 6 4 1 12 1 3 5 ENSG00000185774 chr4 20728616 21948799 - KCNIP4 protein_coding This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 80333 GO:0008076, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005783, GO:0005737, voltage-gated potassium channel complex, plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, cytoplasm, GO:0015459, GO:0005515, GO:0005509, GO:0005267, GO:0005244, potassium channel regulator activity, protein binding, calcium ion binding, potassium channel activity, voltage-gated ion channel activity, GO:1901379, GO:0072659, GO:0071805, GO:0061337, regulation of potassium ion transmembrane transport, protein localization to plasma membrane, potassium ion transmembrane transport, cardiac conduction, 3 0 2 1 0 5 0 2 0 ENSG00000185775 chr9 42183659 42189882 + SPATA31A6 protein_coding 389730 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000185787 chr15 78810487 78898133 + MORF4L1 protein_coding 10933 GO:0035267, GO:0035267, GO:0016607, GO:0016580, GO:0005654, GO:0000123, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, nuclear speck, Sin3 complex, nucleoplasm, histone acetyltransferase complex, GO:0047485, GO:0005515, GO:0003682, protein N-terminus binding, protein binding, chromatin binding, GO:0043968, GO:0043968, GO:0043967, GO:0043967, GO:0040008, GO:0016575, GO:0016575, GO:0016573, GO:0008283, GO:0006342, GO:0000724, histone H2A acetylation, histone H2A acetylation, histone H4 acetylation, histone H4 acetylation, regulation of growth, histone deacetylation, histone deacetylation, histone acetylation, cell population proliferation, chromatin silencing, double-strand break repair via homologous recombination, 2040 1744 2438 1211 1615 1668 1250 1311 1424 ENSG00000185792 chr19 55708432 55738402 - NLRP9 protein_coding The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]. 338321 GO:0061702, inflammasome complex, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0070269, GO:0051607, GO:0045087, GO:0032741, GO:0006954, pyroptosis, defense response to virus, innate immune response, positive regulation of interleukin-18 production, inflammatory response, 2 9 2 9 13 38 24 11 11 ENSG00000185798 chr3 196554177 196568674 - WDR53 protein_coding This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]. 348793 38 55 36 34 61 45 36 52 71 ENSG00000185800 chr19 45782947 45792802 - DMWD protein_coding 1762 GO:0043204, GO:0030425, GO:0005634, GO:0005575, perikaryon, dendrite, nucleus, cellular_component, GO:0003674, molecular_function, 16 15 41 16 13 43 31 10 44 ENSG00000185803 chr8 144354135 144361286 + SLC52A2 protein_coding This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]. 79581 GO:0005887, GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0062124, GO:0032217, GO:0032217, GO:0005515, GO:0001618, 4-hydroxybutyrate receptor activity, riboflavin transmembrane transporter activity, riboflavin transmembrane transporter activity, protein binding, virus receptor activity, GO:0046718, GO:0032218, GO:0032218, GO:0006771, viral entry into host cell, riboflavin transport, riboflavin transport, riboflavin metabolic process, 41 46 54 33 65 48 37 47 59 ENSG00000185808 chr21 37059170 37073170 - PIGP protein_coding This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]. 51227 GO:0016021, GO:0005789, GO:0000506, integral component of membrane, endoplasmic reticulum membrane, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, GO:0017176, GO:0005515, phosphatidylinositol N-acetylglucosaminyltransferase activity, protein binding, GO:0016254, GO:0006506, GO:0006506, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 1 3 8 23 10 8 15 10 6 ENSG00000185811 chr7 50304068 50405101 + IKZF1 protein_coding This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]. 10320 GO:0032991, GO:0032991, GO:0005737, GO:0005721, GO:0005634, GO:0000785, protein-containing complex, protein-containing complex, cytoplasm, pericentric heterochromatin, nucleus, chromatin, GO:0046872, GO:0019904, GO:0005515, GO:0003700, GO:0003677, GO:0000978, metal ion binding, protein domain specific binding, protein binding, DNA-binding transcription factor activity, DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0030218, GO:0030098, GO:0007498, GO:0007049, GO:0006357, GO:0006325, negative regulation of transcription, DNA-templated, erythrocyte differentiation, lymphocyte differentiation, mesoderm development, cell cycle, regulation of transcription by RNA polymerase II, chromatin organization, 1668 1703 2402 1460 1542 1879 1563 1221 1696 ENSG00000185813 chr17 81900965 81911464 - PCYT2 protein_coding This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 5833 GO:0005789, GO:0005575, endoplasmic reticulum membrane, cellular_component, GO:0005515, GO:0004306, GO:0004306, protein binding, ethanolamine-phosphate cytidylyltransferase activity, ethanolamine-phosphate cytidylyltransferase activity, GO:0008654, GO:0006646, GO:0006646, GO:0006646, phospholipid biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, phosphatidylethanolamine biosynthetic process, 37 38 49 107 110 144 147 55 98 ENSG00000185818 chr4 2059512 2069089 + NAT8L protein_coding This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]. 339983 GO:0031966, GO:0031966, GO:0030867, GO:0016021, GO:0005759, GO:0005739, GO:0005737, mitochondrial membrane, mitochondrial membrane, rough endoplasmic reticulum membrane, integral component of membrane, mitochondrial matrix, mitochondrion, cytoplasm, GO:0017188, GO:0017188, GO:0017188, GO:0008080, GO:0005515, aspartate N-acetyltransferase activity, aspartate N-acetyltransferase activity, aspartate N-acetyltransferase activity, N-acetyltransferase activity, protein binding, GO:0008652, cellular amino acid biosynthetic process, 0 0 2 1 0 1 0 0 0 ENSG00000185821 chr12 55426254 55427192 + OR6C76 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390326 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000185823 chr15 24675868 24683393 + NPAP1 protein_coding This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. [provided by RefSeq, Aug 2012]. 23742 GO:0005654, GO:0005643, GO:0005637, nucleoplasm, nuclear pore, nuclear inner membrane, GO:0017056, GO:0008139, GO:0003674, structural constituent of nuclear pore, nuclear localization sequence binding, molecular_function, GO:0030154, GO:0007283, GO:0007275, GO:0006606, GO:0006405, cell differentiation, spermatogenesis, multicellular organism development, protein import into nucleus, RNA export from nucleus, 0 0 0 4 0 0 0 0 0 ENSG00000185825 chrX 153700492 153724746 - BCAP31 protein_coding This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]. 10134 GO:0097038, GO:0071556, GO:0044233, GO:0033116, GO:0032580, GO:0030136, GO:0016020, GO:0005887, GO:0005829, GO:0005811, GO:0005789, GO:0005789, GO:0005783, GO:0005739, perinuclear endoplasmic reticulum, integral component of lumenal side of endoplasmic reticulum membrane, mitochondria-associated endoplasmic reticulum membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, Golgi cisterna membrane, clathrin-coated vesicle, membrane, integral component of plasma membrane, cytosol, lipid droplet, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, GO:0044877, GO:0042288, GO:0005515, protein-containing complex binding, MHC class I protein binding, protein binding, GO:2001244, GO:1904154, GO:1903071, GO:0070973, GO:0051561, GO:0043280, GO:0035584, GO:0034976, GO:0032471, GO:0016032, GO:0007283, GO:0007204, GO:0006915, GO:0006888, GO:0006626, GO:0002474, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of retrograde protein transport, ER to cytosol, positive regulation of ER-associated ubiquitin-dependent protein catabolic process, protein localization to endoplasmic reticulum exit site, positive regulation of mitochondrial calcium ion concentration, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, calcium-mediated signaling using intracellular calcium source, response to endoplasmic reticulum stress, negative regulation of endoplasmic reticulum calcium ion concentration, viral process, spermatogenesis, positive regulation of cytosolic calcium ion concentration, apoptotic process, endoplasmic reticulum to Golgi vesicle-mediated transport, protein targeting to mitochondrion, antigen processing and presentation of peptide antigen via MHC class I, 960 800 1039 394 626 484 448 535 486 ENSG00000185829 chr17 46516702 46579682 - ARL17A protein_coding 51326 1 0 0 6 1 3 8 0 0 ENSG00000185834 chr20 55074644 55075140 + RPL12P4 processed_pseudogene 4 3 4 6 2 6 6 4 2 ENSG00000185837 chr22 17159384 17165445 + HDHD5-AS1 antisense 100130717 0 0 0 0 0 0 0 0 0 ENSG00000185838 chr22 19783224 19854939 - GNB1L protein_coding This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]. 54584 GO:0009898, GO:0005737, cytoplasmic side of plasma membrane, cytoplasm, GO:0003674, molecular_function, GO:0035556, GO:0035176, GO:0007186, intracellular signal transduction, social behavior, G protein-coupled receptor signaling pathway, 18 13 16 5 10 18 12 21 2 ENSG00000185839 chr1 58630841 58631530 - AL035411.1 processed_pseudogene 5 4 7 14 4 5 12 11 4 ENSG00000185842 chr1 224896262 225399292 + DNAH14 protein_coding Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]. 127602 GO:0030286, GO:0005929, GO:0005874, GO:0005737, dynein complex, cilium, microtubule, cytoplasm, GO:0051959, GO:0045505, GO:0008569, GO:0005524, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, GO:0007018, microtubule-based movement, 7 16 11 1 16 4 7 2 1 ENSG00000185847 chr12 110936585 110958208 + LINC01405 lincRNA 100131138 0 0 0 0 0 0 0 0 0 ENSG00000185860 chr1 162824458 162868815 - CCDC190 protein_coding 339512 0 0 0 0 0 0 0 0 0 ENSG00000185862 chr17 31303766 31314112 - EVI2B protein_coding 2124 GO:0005887, integral component of plasma membrane, GO:2000035, GO:2000035, GO:0071157, GO:0061515, GO:0045660, GO:0045660, GO:0043066, GO:0030854, GO:0030854, regulation of stem cell division, regulation of stem cell division, negative regulation of cell cycle arrest, myeloid cell development, positive regulation of neutrophil differentiation, positive regulation of neutrophil differentiation, negative regulation of apoptotic process, positive regulation of granulocyte differentiation, positive regulation of granulocyte differentiation, 10932 11253 14720 2256 6400 4736 3917 6028 4858 ENSG00000185863 chr9 137170858 137172409 - TMEM210 protein_coding 100505993 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000185864 chr16 21834569 21880827 - NPIPB4 protein_coding 440345 GO:0016021, GO:0005654, GO:0005654, integral component of membrane, nucleoplasm, nucleoplasm, 49 83 62 85 82 74 93 49 54 ENSG00000185869 chr19 36888124 36916291 - ZNF829 protein_coding 374899 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 9 5 15 34 3 22 13 3 9 ENSG00000185873 chr4 68226653 68245720 - TMPRSS11B protein_coding 132724 GO:0070062, GO:0005887, GO:0005886, GO:0005886, extracellular exosome, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0008236, GO:0004252, serine-type peptidase activity, serine-type endopeptidase activity, GO:0008150, GO:0006508, biological_process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000185875 chr10 25016658 25026664 + THNSL1 protein_coding 79896 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 5 0 6 10 8 21 20 4 0 ENSG00000185880 chr15 44728988 44767829 + TRIM69 protein_coding This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 140691 GO:0016607, GO:0005829, GO:0005737, GO:0005737, GO:0005634, nuclear speck, cytosol, cytoplasm, cytoplasm, nucleus, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0016567, GO:0006915, GO:0000209, protein ubiquitination, apoptotic process, protein polyubiquitination, 21 20 17 8 12 16 14 3 16 ENSG00000185883 chr16 2513870 2520218 + ATP6V0C protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]. 527 GO:0101003, GO:0070821, GO:0070062, GO:0035577, GO:0033179, GO:0030670, GO:0016021, GO:0010008, GO:0005925, GO:0005886, GO:0005765, ficolin-1-rich granule membrane, tertiary granule membrane, extracellular exosome, azurophil granule membrane, proton-transporting V-type ATPase, V0 domain, phagocytic vesicle membrane, integral component of membrane, endosome membrane, focal adhesion, plasma membrane, lysosomal membrane, GO:0046961, GO:0046933, GO:0031625, GO:0005515, proton-transporting ATPase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, ubiquitin protein ligase binding, protein binding, GO:1902600, GO:0090383, GO:0043312, GO:0034220, GO:0033572, GO:0030177, GO:0016241, GO:0016032, GO:0015986, GO:0008286, proton transmembrane transport, phagosome acidification, neutrophil degranulation, ion transmembrane transport, transferrin transport, positive regulation of Wnt signaling pathway, regulation of macroautophagy, viral process, ATP synthesis coupled proton transport, insulin receptor signaling pathway, 10 27 14 970 1669 978 904 843 751 ENSG00000185885 chr11 313506 315272 + IFITM1 protein_coding 8519 GO:0032991, GO:0016021, GO:0016020, GO:0005886, GO:0005886, protein-containing complex, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0060337, GO:0060337, GO:0051607, GO:0050776, GO:0046597, GO:0046597, GO:0045669, GO:0045071, GO:0045071, GO:0045071, GO:0035456, GO:0035456, GO:0035455, GO:0035455, GO:0034341, GO:0034341, GO:0030336, GO:0009615, GO:0008285, GO:0007166, GO:0001503, type I interferon signaling pathway, type I interferon signaling pathway, defense response to virus, regulation of immune response, negative regulation of viral entry into host cell, negative regulation of viral entry into host cell, positive regulation of osteoblast differentiation, negative regulation of viral genome replication, negative regulation of viral genome replication, negative regulation of viral genome replication, response to interferon-beta, response to interferon-beta, response to interferon-alpha, response to interferon-alpha, response to interferon-gamma, response to interferon-gamma, negative regulation of cell migration, response to virus, negative regulation of cell population proliferation, cell surface receptor signaling pathway, ossification, 266 319 271 154 233 175 155 291 183 ENSG00000185888 chr1 227815693 227846470 + PRSS38 protein_coding 339501 GO:0005576, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000185894 chrY 25030901 25062548 - BPY2C protein_coding This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008]. 442868 GO:0005634, nucleus, GO:0032399, GO:0005515, HECT domain binding, protein binding, GO:0007338, GO:0007283, single fertilization, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000185896 chr13 113297241 113323672 + LAMP1 protein_coding The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]. 3916 GO:0101003, GO:0097208, GO:0070062, GO:0061474, GO:0048471, GO:0044754, GO:0044194, GO:0043025, GO:0042470, GO:0042383, GO:0035577, GO:0031902, GO:0030425, GO:0016020, GO:0010008, GO:0009897, GO:0008021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005771, GO:0005770, GO:0005765, GO:0005765, GO:0005764, GO:0005764, GO:0005737, ficolin-1-rich granule membrane, alveolar lamellar body, extracellular exosome, phagolysosome membrane, perinuclear region of cytoplasm, autolysosome, cytolytic granule, neuronal cell body, melanosome, sarcolemma, azurophil granule membrane, late endosome membrane, dendrite, membrane, endosome membrane, external side of plasma membrane, synaptic vesicle, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, multivesicular body, late endosome, lysosomal membrane, lysosomal membrane, lysosome, lysosome, cytoplasm, GO:0019904, GO:0019899, GO:0005515, GO:0001618, protein domain specific binding, enzyme binding, protein binding, virus receptor activity, GO:1902513, GO:0140507, GO:0090160, GO:0072594, GO:0072594, GO:0050821, GO:0048102, GO:0046718, GO:0045954, GO:0043323, GO:0043312, regulation of organelle transport along microtubule, granzyme-mediated programmed cell death signaling pathway, Golgi to lysosome transport, establishment of protein localization to organelle, establishment of protein localization to organelle, protein stabilization, autophagic cell death, viral entry into host cell, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of natural killer cell degranulation, neutrophil degranulation, 1994 2361 2634 2077 2528 2057 1983 1956 1396 ENSG00000185897 chr19 35358460 35360485 + FFAR3 protein_coding 2865 GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0008289, GO:0005515, GO:0004930, lipid binding, protein binding, G protein-coupled receptor activity, GO:0090276, GO:0071398, GO:0046885, GO:0046626, GO:0045776, GO:0032722, GO:0014061, GO:0007193, GO:0007186, GO:0007186, GO:0006954, GO:0002879, GO:0002720, GO:0002385, regulation of peptide hormone secretion, cellular response to fatty acid, regulation of hormone biosynthetic process, regulation of insulin receptor signaling pathway, negative regulation of blood pressure, positive regulation of chemokine production, regulation of norepinephrine secretion, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, positive regulation of acute inflammatory response to non-antigenic stimulus, positive regulation of cytokine production involved in immune response, mucosal immune response, 30 8 92 4 0 8 14 3 13 ENSG00000185899 chr7 143443453 143444409 + TAS2R60 protein_coding This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. [provided by RefSeq, Jul 2017]. 338398 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0004930, bitter taste receptor activity, G protein-coupled receptor activity, GO:0050913, GO:0007186, GO:0001580, sensory perception of bitter taste, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, 0 1 0 0 2 4 1 0 1 ENSG00000185900 chr8 43093506 43123434 + POMK protein_coding This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]. 84197 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0019200, GO:0019200, GO:0016773, GO:0016773, GO:0005524, GO:0005515, GO:0004672, carbohydrate kinase activity, carbohydrate kinase activity, phosphotransferase activity, alcohol group as acceptor, phosphotransferase activity, alcohol group as acceptor, ATP binding, protein binding, protein kinase activity, GO:0046835, GO:0046835, GO:0007420, GO:0006493, GO:0006493, GO:0006493, GO:0006468, carbohydrate phosphorylation, carbohydrate phosphorylation, brain development, protein O-linked glycosylation, protein O-linked glycosylation, protein O-linked glycosylation, protein phosphorylation, 22 17 26 12 34 34 12 24 25 ENSG00000185903 chrX 131324391 131325313 - OR11N1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000185904 chr10 42475543 42495336 + LINC00839 lincRNA 84856 0 0 0 0 0 0 0 0 0 ENSG00000185905 chr16 29742463 29746006 - C16orf54 protein_coding 283897 GO:0016021, integral component of membrane, GO:0005515, protein binding, 3232 3165 3923 660 1856 1283 1033 1679 1199 ENSG00000185909 chr3 49171611 49176486 + KLHDC8B protein_coding This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]. 200942 GO:0110070, GO:0045171, GO:0030496, GO:0005829, GO:0005737, cellularization cleavage furrow, intercellular bridge, midbody, cytosol, cytoplasm, GO:1902410, GO:0140014, GO:0098813, mitotic cytokinetic process, mitotic nuclear division, nuclear chromosome segregation, 619 1267 804 49 187 49 97 180 49 ENSG00000185915 chrX 21654690 21658330 - KLHL34 protein_coding 257240 GO:0005615, extracellular space, 0 1 1 0 0 0 2 1 0 ENSG00000185917 chr21 36034541 36079389 - SETD4 protein_coding 54093 GO:0005829, GO:0005634, cytosol, nucleus, GO:0016279, protein-lysine N-methyltransferase activity, GO:0018026, GO:0018023, peptidyl-lysine monomethylation, peptidyl-lysine trimethylation, 38 32 44 56 83 61 39 42 47 ENSG00000185920 chr9 95442980 95517057 - PTCH1 protein_coding This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]. 5727 GO:0060170, GO:0048471, GO:0045177, GO:0044295, GO:0044294, GO:0043231, GO:0030666, GO:0030496, GO:0016021, GO:0014069, GO:0005901, GO:0005886, GO:0005886, GO:0005794, GO:0005634, ciliary membrane, perinuclear region of cytoplasm, apical part of cell, axonal growth cone, dendritic growth cone, intracellular membrane-bounded organelle, endocytic vesicle membrane, midbody, integral component of membrane, postsynaptic density, caveola, plasma membrane, plasma membrane, Golgi apparatus, nucleus, GO:0097108, GO:0097108, GO:0044877, GO:0030332, GO:0015485, GO:0008201, GO:0008158, GO:0005515, GO:0005119, GO:0005119, GO:0005113, hedgehog family protein binding, hedgehog family protein binding, protein-containing complex binding, cyclin binding, cholesterol binding, heparin binding, hedgehog receptor activity, protein binding, smoothened binding, smoothened binding, patched binding, GO:0097421, GO:0072659, GO:0072205, GO:0072203, GO:0071679, GO:0071397, GO:0071397, GO:0061053, GO:0061005, GO:0060831, GO:0060644, GO:0060603, GO:0060037, GO:0051782, GO:0050680, GO:0048745, GO:0048568, GO:0045893, GO:0045879, GO:0045879, GO:0045668, GO:0045606, GO:0043616, GO:0043433, GO:0042593, GO:0042493, GO:0040015, GO:0035137, GO:0035108, GO:0032880, GO:0032526, GO:0032355, GO:0030850, GO:0030326, GO:0021997, GO:0021532, GO:0021522, GO:0016485, GO:0010875, GO:0010157, GO:0009957, GO:0009953, GO:0009887, GO:0009612, GO:0008589, GO:0007420, GO:0007346, GO:0007224, GO:0007224, GO:0003007, GO:0001843, GO:0001709, GO:0001701, GO:0001658, GO:0000122, liver regeneration, protein localization to plasma membrane, metanephric collecting duct development, cell proliferation involved in metanephros development, commissural neuron axon guidance, cellular response to cholesterol, cellular response to cholesterol, somite development, cell differentiation involved in kidney development, smoothened signaling pathway involved in dorsal/ventral neural tube patterning, mammary gland epithelial cell differentiation, mammary gland duct morphogenesis, pharyngeal system development, negative regulation of cell division, negative regulation of epithelial cell proliferation, smooth muscle tissue development, embryonic organ development, positive regulation of transcription, DNA-templated, negative regulation of smoothened signaling pathway, negative regulation of smoothened signaling pathway, negative regulation of osteoblast differentiation, positive regulation of epidermal cell differentiation, keratinocyte proliferation, negative regulation of DNA-binding transcription factor activity, glucose homeostasis, response to drug, negative regulation of multicellular organism growth, hindlimb morphogenesis, limb morphogenesis, regulation of protein localization, response to retinoic acid, response to estradiol, prostate gland development, embryonic limb morphogenesis, neural plate axis specification, neural tube patterning, spinal cord motor neuron differentiation, protein processing, positive regulation of cholesterol efflux, response to chlorate, epidermal cell fate specification, dorsal/ventral pattern formation, animal organ morphogenesis, response to mechanical stimulus, regulation of smoothened signaling pathway, brain development, regulation of mitotic cell cycle, smoothened signaling pathway, smoothened signaling pathway, heart morphogenesis, neural tube closure, cell fate determination, in utero embryonic development, branching involved in ureteric bud morphogenesis, negative regulation of transcription by RNA polymerase II, 6 13 32 34 13 54 52 9 50 ENSG00000185924 chr17 1934677 2025345 - RTN4RL1 protein_coding 146760 GO:0070062, GO:0046658, GO:0045121, GO:0043204, GO:0042995, GO:0031012, GO:0009986, GO:0009897, GO:0005886, GO:0005615, GO:0005576, extracellular exosome, anchored component of plasma membrane, membrane raft, perikaryon, cell projection, extracellular matrix, cell surface, external side of plasma membrane, plasma membrane, extracellular space, extracellular region, GO:0038023, GO:0035374, GO:0008201, GO:0005515, signaling receptor activity, chondroitin sulfate binding, heparin binding, protein binding, GO:0048681, GO:0031103, GO:0022038, GO:0010977, negative regulation of axon regeneration, axon regeneration, corpus callosum development, negative regulation of neuron projection development, 0 0 1 0 0 0 0 2 0 ENSG00000185926 chr11 54603069 54603998 - OR4C46 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119749 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000185933 chr10 103453387 103458888 - CALHM1 protein_coding This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]. 255022 GO:0016323, GO:0005887, GO:0005887, GO:0005789, basolateral plasma membrane, integral component of plasma membrane, integral component of plasma membrane, endoplasmic reticulum membrane, GO:0042802, GO:0005515, GO:0005261, GO:0005245, GO:0005244, GO:0005227, identical protein binding, protein binding, cation channel activity, voltage-gated calcium channel activity, voltage-gated ion channel activity, calcium activated cation channel activity, GO:0070588, GO:0051260, GO:0050917, GO:0050916, GO:0050913, GO:0050896, GO:0034765, GO:0015867, GO:0006812, calcium ion transmembrane transport, protein homooligomerization, sensory perception of umami taste, sensory perception of sweet taste, sensory perception of bitter taste, response to stimulus, regulation of ion transmembrane transport, ATP transport, cation transport, 0 0 0 0 0 1 0 0 0 ENSG00000185940 chr11 1629775 1630707 + KRTAP5-5 protein_coding 439915 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000185942 chr8 62248591 62999652 + NKAIN3 protein_coding NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]. 286183 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0002028, regulation of sodium ion transport, 1 0 3 0 0 0 0 0 0 ENSG00000185946 chr1 103525691 103555239 + RNPC3 protein_coding Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]. 55599 GO:0005689, GO:0005689, GO:0005654, GO:0005654, GO:0005634, U12-type spliceosomal complex, U12-type spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, GO:0097157, GO:0030626, pre-mRNA intronic binding, U12 snRNA binding, GO:0008380, GO:0000398, GO:0000398, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 527 459 577 439 589 515 501 375 429 ENSG00000185947 chr16 31873758 31917357 + ZNF267 protein_coding 10308 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0007275, GO:0006357, positive regulation of transcription by RNA polymerase II, multicellular organism development, regulation of transcription by RNA polymerase II, 3757 4225 6567 3732 2334 2668 3386 2035 2040 ENSG00000185950 chr13 109752698 109786568 - IRS2 protein_coding This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]. 8660 GO:0032991, GO:0005886, GO:0005886, GO:0005829, GO:0005829, protein-containing complex, plasma membrane, plasma membrane, cytosol, cytosol, GO:0071889, GO:0043548, GO:0019904, GO:0019903, GO:0019901, GO:0005515, GO:0005158, 14-3-3 protein binding, phosphatidylinositol 3-kinase binding, protein domain specific binding, protein phosphatase binding, protein kinase binding, protein binding, insulin receptor binding, GO:0071333, GO:0055088, GO:0051897, GO:0048015, GO:0046579, GO:0046326, GO:0045725, GO:0045725, GO:0038111, GO:0033673, GO:0032869, GO:0032024, GO:0032000, GO:0030890, GO:0030879, GO:0030335, GO:0019216, GO:0014068, GO:0010907, GO:0010748, GO:0009749, GO:0008286, GO:0008286, GO:0008284, GO:0007420, GO:0007411, GO:0007165, GO:0006006, GO:0002903, GO:0002053, GO:0000165, cellular response to glucose stimulus, lipid homeostasis, positive regulation of protein kinase B signaling, phosphatidylinositol-mediated signaling, positive regulation of Ras protein signal transduction, positive regulation of glucose import, positive regulation of glycogen biosynthetic process, positive regulation of glycogen biosynthetic process, interleukin-7-mediated signaling pathway, negative regulation of kinase activity, cellular response to insulin stimulus, positive regulation of insulin secretion, positive regulation of fatty acid beta-oxidation, positive regulation of B cell proliferation, mammary gland development, positive regulation of cell migration, regulation of lipid metabolic process, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of glucose metabolic process, negative regulation of long-chain fatty acid import across plasma membrane, response to glucose, insulin receptor signaling pathway, insulin receptor signaling pathway, positive regulation of cell population proliferation, brain development, axon guidance, signal transduction, glucose metabolic process, negative regulation of B cell apoptotic process, positive regulation of mesenchymal cell proliferation, MAPK cascade, 1443 2726 2160 3809 5594 3691 3819 3966 2789 ENSG00000185955 chr7 100456615 100464271 - C7orf61 protein_coding 402573 GO:0005634, nucleus, 22 13 20 67 49 94 95 29 102 ENSG00000185958 chr12 50326230 50396622 - FAM186A protein_coding 121006 0 0 0 0 1 0 0 1 0 ENSG00000185960 chrX 624344 659411 + SHOX protein_coding This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]. 6473 GO:0043231, GO:0005654, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, nucleoplasm, nucleus, chromatin, GO:1990837, GO:1990837, GO:0043565, GO:0043565, GO:0005515, GO:0001228, GO:0001228, GO:0000981, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0045944, GO:0006357, GO:0001501, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000185962 chr1 152622834 152623103 - LCE3A protein_coding 353142 GO:0005515, protein binding, GO:0050830, GO:0050829, GO:0031640, GO:0031424, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, killing of cells of other organism, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000185963 chr9 92711363 92764812 - BICD2 protein_coding This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]. 23299 GO:0031410, GO:0005886, GO:0005829, GO:0005829, GO:0005813, GO:0005794, GO:0005794, GO:0005737, GO:0005643, GO:0005642, GO:0005635, cytoplasmic vesicle, plasma membrane, cytosol, cytosol, centrosome, Golgi apparatus, Golgi apparatus, cytoplasm, nuclear pore, annulate lamellae, nuclear envelope, GO:0070840, GO:0070840, GO:0051959, GO:0034452, GO:0034452, GO:0031267, GO:0031267, GO:0008093, GO:0005515, dynein complex binding, dynein complex binding, dynein light intermediate chain binding, dynactin binding, dynactin binding, small GTPase binding, small GTPase binding, cytoskeletal anchor activity, protein binding, GO:0072393, GO:0072393, GO:0072385, GO:0070507, GO:0070507, GO:0051642, GO:0051028, GO:0034067, GO:0034067, GO:0033365, GO:0015031, GO:0007018, GO:0006890, GO:0006890, microtubule anchoring at microtubule organizing center, microtubule anchoring at microtubule organizing center, minus-end-directed organelle transport along microtubule, regulation of microtubule cytoskeleton organization, regulation of microtubule cytoskeleton organization, centrosome localization, mRNA transport, protein localization to Golgi apparatus, protein localization to Golgi apparatus, protein localization to organelle, protein transport, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, 719 1023 720 481 1001 640 669 911 602 ENSG00000185966 chr1 152565654 152566772 - LCE3E protein_coding 353145 GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000185972 chr9 36169394 36171334 + CCIN protein_coding The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008]. 881 GO:0033150, GO:0032839, GO:0015629, GO:0005634, cytoskeletal calyx, dendrite cytoplasm, actin cytoskeleton, nucleus, GO:0051015, GO:0005515, actin filament binding, protein binding, GO:0030154, GO:0030036, GO:0007420, GO:0007283, cell differentiation, actin cytoskeleton organization, brain development, spermatogenesis, 22 14 12 32 55 48 24 28 31 ENSG00000185973 chrX 155490115 155669944 - TMLHE protein_coding This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 55217 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0050353, GO:0016702, GO:0005506, trimethyllysine dioxygenase activity, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, iron ion binding, GO:0055114, GO:0045329, GO:0045329, GO:0045329, GO:0045329, oxidation-reduction process, carnitine biosynthetic process, carnitine biosynthetic process, carnitine biosynthetic process, carnitine biosynthetic process, 113 129 88 68 76 54 73 88 83 ENSG00000185974 chr13 113667155 113737735 + GRK1 protein_coding This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]. 6011 GO:0097381, photoreceptor disc membrane, GO:0050254, GO:0005524, GO:0004703, GO:0004672, rhodopsin kinase activity, ATP binding, G protein-coupled receptor kinase activity, protein kinase activity, GO:0046777, GO:0022400, GO:0022400, GO:0016056, GO:0008277, GO:0007601, protein autophosphorylation, regulation of rhodopsin mediated signaling pathway, regulation of rhodopsin mediated signaling pathway, rhodopsin mediated signaling pathway, regulation of G protein-coupled receptor signaling pathway, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000185982 chr20 187853 189681 - DEFB128 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]. 245939 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0050830, GO:0050829, GO:0045087, GO:0031640, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, killing of cells of other organism, 0 0 0 0 0 0 0 0 0 ENSG00000185985 chrX 145817832 145829856 + SLITRK2 protein_coding This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]. 84631 GO:0099055, GO:0098982, GO:0098982, GO:0098978, GO:0098978, GO:0005886, integral component of postsynaptic membrane, GABA-ergic synapse, GABA-ergic synapse, glutamatergic synapse, glutamatergic synapse, plasma membrane, GO:1905606, GO:1905606, GO:0099560, GO:0099560, GO:0051965, GO:0050807, GO:0050807, GO:0007409, regulation of presynapse assembly, regulation of presynapse assembly, synaptic membrane adhesion, synaptic membrane adhesion, positive regulation of synapse assembly, regulation of synapse organization, regulation of synapse organization, axonogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000185986 chr5 1572222 1594620 - SDHAP3 transcribed_unprocessed_pseudogene 6 6 13 23 8 27 18 6 12 ENSG00000185988 chr19 1524074 1536046 + PLK5 protein_coding 126520 GO:0005813, GO:0005737, GO:0005737, GO:0005730, GO:0005634, GO:0000922, centrosome, cytoplasm, cytoplasm, nucleolus, nucleus, spindle pole, GO:0005524, GO:0004672, ATP binding, protein kinase activity, GO:2000045, GO:0090166, GO:0071363, GO:0051301, GO:0044819, GO:0042981, GO:0032465, GO:0010976, GO:0006974, GO:0006468, GO:0002357, GO:0000278, regulation of G1/S transition of mitotic cell cycle, Golgi disassembly, cellular response to growth factor stimulus, cell division, mitotic G1/S transition checkpoint, regulation of apoptotic process, regulation of cytokinesis, positive regulation of neuron projection development, cellular response to DNA damage stimulus, protein phosphorylation, defense response to tumor cell, mitotic cell cycle, 0 0 1 0 0 0 0 0 0 ENSG00000185989 chr13 113977783 114132611 - RASA3 protein_coding This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 22821 GO:0031235, GO:0005829, intrinsic component of the cytoplasmic side of the plasma membrane, cytosol, GO:0046872, GO:0015278, GO:0005096, metal ion binding, calcium-release channel activity, GTPase activator activity, GO:0051209, GO:0046580, GO:0043547, GO:0007165, GO:0000165, release of sequestered calcium ion into cytosol, negative regulation of Ras protein signal transduction, positive regulation of GTPase activity, signal transduction, MAPK cascade, 602 501 842 653 448 843 690 367 707 ENSG00000186001 chr3 197791226 197888436 + LRCH3 protein_coding 84859 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0005515, protein binding, GO:0032185, septin cytoskeleton organization, 179 190 232 218 231 290 245 186 240 ENSG00000186007 chr1 205381378 205457091 - LEMD1 protein_coding 93273 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 1 0 0 0 0 0 2 0 ENSG00000186008 chr19 34092561 34093310 - RPS4XP21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186009 chr13 113648804 113658186 - ATP4B protein_coding The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]. 496 GO:0005890, GO:0005886, sodium:potassium-exchanging ATPase complex, plasma membrane, GO:0008900, GO:0008144, GO:0005515, GO:0005391, GO:0001671, potassium:proton exchanging ATPase activity, drug binding, protein binding, sodium:potassium-exchanging ATPase activity, ATPase activator activity, GO:1990573, GO:0045851, GO:0036376, GO:0034220, GO:0032781, GO:0032496, GO:0030007, GO:0010248, GO:0010243, GO:0007155, GO:0006883, potassium ion import across plasma membrane, pH reduction, sodium ion export across plasma membrane, ion transmembrane transport, positive regulation of ATPase activity, response to lipopolysaccharide, cellular potassium ion homeostasis, establishment or maintenance of transmembrane electrochemical gradient, response to organonitrogen compound, cell adhesion, cellular sodium ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000186010 chr19 19515736 19529054 + NDUFA13 protein_coding This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]. 51079 GO:0031966, GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005746, GO:0005743, GO:0005739, GO:0005737, GO:0005654, mitochondrial membrane, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respirasome, mitochondrial inner membrane, mitochondrion, cytoplasm, nucleoplasm, GO:0008137, GO:0008137, GO:0005524, GO:0005515, GO:0003954, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, ATP binding, protein binding, NADH dehydrogenase activity, GO:2001243, GO:0097191, GO:0097190, GO:0072593, GO:0071300, GO:0045892, GO:0045732, GO:0045039, GO:0043280, GO:0035458, GO:0032981, GO:0032981, GO:0030308, GO:0030308, GO:0016032, GO:0010952, GO:0006120, negative regulation of intrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, apoptotic signaling pathway, reactive oxygen species metabolic process, cellular response to retinoic acid, negative regulation of transcription, DNA-templated, positive regulation of protein catabolic process, protein insertion into mitochondrial inner membrane, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, cellular response to interferon-beta, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, negative regulation of cell growth, negative regulation of cell growth, viral process, positive regulation of peptidase activity, mitochondrial electron transport, NADH to ubiquinone, 8 8 14 16 17 3 27 7 14 ENSG00000186017 chr19 36445119 36489902 - ZNF566 protein_coding 84924 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 15 9 17 18 4 18 19 11 22 ENSG00000186019 chr19 44105463 44113145 - AC021092.1 antisense 107 164 116 165 265 226 146 150 126 ENSG00000186020 chr19 36534774 36605276 - ZNF529 protein_coding 57711 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 39 48 75 76 45 98 106 40 62 ENSG00000186026 chr19 44072144 44089613 + ZNF284 protein_coding 342909 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2 1 0 3 2 0 8 1 4 ENSG00000186038 chr3 184097064 184106995 + HTR3E protein_coding This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2012]. 285242 GO:0045202, GO:0043005, GO:0005887, GO:0005886, synapse, neuron projection, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0022850, GO:0022850, GO:0004888, neurotransmitter receptor activity, serotonin-gated cation-selective channel activity, serotonin-gated cation-selective channel activity, transmembrane signaling receptor activity, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007268, GO:0007210, GO:0007165, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, chemical synaptic transmission, serotonin receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000186047 chr13 50711008 50843939 - DLEU7 protein_coding 220107 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 79 68 94 8 17 2 3 26 7 ENSG00000186049 chr12 52607570 52618559 - KRT73 protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]. 319101 GO:0070062, GO:0045095, GO:0005829, GO:0005634, extracellular exosome, keratin filament, cytosol, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0070268, GO:0031424, GO:0008150, cornification, keratinization, biological_process, 2 11 8 2 4 3 8 4 0 ENSG00000186051 chr9 105662457 105663112 + TAL2 protein_coding This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009]. 6887 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046983, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0035264, GO:0030901, GO:0021794, GO:0009791, GO:0006357, multicellular organism growth, midbrain development, thalamus development, post-embryonic development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 2 0 0 ENSG00000186056 chr1 30718504 30726827 + MATN1-AS1 antisense 100129196 23 33 36 105 33 89 63 29 48 ENSG00000186063 chr1 222668013 222713210 - AIDA protein_coding 64853 GO:0016020, GO:0005737, GO:0005575, membrane, cytoplasm, cellular_component, GO:0035091, GO:0019904, GO:0005515, phosphatidylinositol binding, protein domain specific binding, protein binding, GO:0048264, GO:0046329, GO:0043508, GO:0031333, GO:0009953, determination of ventral identity, negative regulation of JNK cascade, negative regulation of JUN kinase activity, negative regulation of protein-containing complex assembly, dorsal/ventral pattern formation, 92 107 125 56 121 120 104 102 150 ENSG00000186073 chr15 36579611 36810248 + C15orf41 protein_coding This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]. 84529 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0030218, GO:0030218, erythrocyte differentiation, erythrocyte differentiation, 5 3 11 14 4 18 8 2 1 ENSG00000186074 chr17 74694311 74712978 - CD300LF protein_coding This gene encodes a member of the CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 146722 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0097001, GO:0005136, GO:0004888, GO:0001786, ceramide binding, interleukin-4 receptor binding, transmembrane signaling receptor activity, phosphatidylserine binding, GO:2000427, GO:2000426, GO:1902216, GO:0050776, GO:0035772, GO:0035666, GO:0034125, GO:0033004, GO:0002376, positive regulation of apoptotic cell clearance, negative regulation of apoptotic cell clearance, positive regulation of interleukin-4-mediated signaling pathway, regulation of immune response, interleukin-13-mediated signaling pathway, TRIF-dependent toll-like receptor signaling pathway, negative regulation of MyD88-dependent toll-like receptor signaling pathway, negative regulation of mast cell activation, immune system process, 845 753 869 625 899 668 735 741 657 ENSG00000186075 chr17 39868164 39877896 + ZPBP2 protein_coding 124626 GO:0044297, GO:0005634, GO:0005576, GO:0002199, GO:0001669, cell body, nucleus, extracellular region, zona pellucida receptor complex, acrosomal vesicle, GO:0046466, GO:0007339, GO:0006665, GO:0002638, GO:0001675, membrane lipid catabolic process, binding of sperm to zona pellucida, sphingolipid metabolic process, negative regulation of immunoglobulin production, acrosome assembly, 1 0 5 0 0 0 1 0 0 ENSG00000186076 chr12 93640822 93641586 - AC012085.1 processed_pseudogene 12 19 19 6 8 6 6 6 5 ENSG00000186081 chr12 52514575 52520687 - KRT5 protein_coding The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. 3852 GO:0070062, GO:0045095, GO:0016020, GO:0005886, GO:0005882, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, keratin filament, membrane, plasma membrane, intermediate filament, cytosol, cytoplasm, nucleus, GO:0097110, GO:0005515, GO:0005200, scaffold protein binding, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0031581, GO:0031424, GO:0008544, GO:0007010, cornification, hemidesmosome assembly, keratinization, epidermis development, cytoskeleton organization, 0 0 1 0 0 3 0 2 13 ENSG00000186082 chr11 35860249 35861498 - KRT18P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186086 chr1 108450282 108471002 + NBPF6 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013]. 653149 GO:0005737, cytoplasm, 0 0 0 0 0 3 0 0 0 ENSG00000186088 chr7 77310751 77416400 - GSAP protein_coding Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]. 54103 GO:0005802, GO:0005802, trans-Golgi network, trans-Golgi network, GO:0005515, GO:0001540, protein binding, amyloid-beta binding, GO:1902004, GO:1902004, GO:0030162, positive regulation of amyloid-beta formation, positive regulation of amyloid-beta formation, regulation of proteolysis, 119 113 177 165 165 231 197 117 161 ENSG00000186090 chr3 184031544 184039369 + HTR3D protein_coding The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]. 200909 GO:0045202, GO:0043005, GO:0005887, GO:0005886, synapse, neuron projection, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0022850, GO:0022850, GO:0005515, GO:0004888, neurotransmitter receptor activity, serotonin-gated cation-selective channel activity, serotonin-gated cation-selective channel activity, protein binding, transmembrane signaling receptor activity, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007268, GO:0007210, GO:0007165, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, chemical synaptic transmission, serotonin receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000186092 chr1 65419 71585 + OR4F5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79501 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186094 chr1 48532855 50023913 - AGBL4 protein_coding 84871 GO:1904115, GO:0036064, GO:0005829, GO:0005814, GO:0005794, axon cytoplasm, ciliary basal body, cytosol, centriole, Golgi apparatus, GO:0015631, GO:0008270, GO:0004181, tubulin binding, zinc ion binding, metallocarboxypeptidase activity, GO:2000060, GO:0120222, GO:0098958, GO:0098957, GO:0051607, GO:0035610, GO:0035609, GO:0035608, GO:0021954, GO:0008285, GO:0006508, positive regulation of ubiquitin-dependent protein catabolic process, regulation of blastocyst development, retrograde axonal transport of mitochondrion, anterograde axonal transport of mitochondrion, defense response to virus, protein side chain deglutamylation, C-terminal protein deglutamylation, protein deglutamylation, central nervous system neuron development, negative regulation of cell population proliferation, proteolysis, 0 0 0 0 0 0 0 0 2 ENSG00000186103 chr3 121570704 121586634 + ARGFX protein_coding Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008]. 503582 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000186104 chr11 14877440 14892252 - CYP2R1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]. 120227 GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:1902271, GO:0042803, GO:0030343, GO:0030343, GO:0020037, GO:0020037, GO:0016712, GO:0008395, GO:0005506, D3 vitamins binding, protein homodimerization activity, vitamin D3 25-hydroxylase activity, vitamin D3 25-hydroxylase activity, heme binding, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, iron ion binding, GO:0055114, GO:0042738, GO:0042359, GO:0036378, GO:0010212, GO:0010164, GO:0006805, GO:0006766, GO:0006082, oxidation-reduction process, exogenous drug catabolic process, vitamin D metabolic process, calcitriol biosynthetic process from calciol, response to ionizing radiation, response to cesium ion, xenobiotic metabolic process, vitamin metabolic process, organic acid metabolic process, 88 83 102 113 130 124 123 75 103 ENSG00000186105 chr5 62578735 62581448 + LRRC70 protein_coding 100130733 GO:0005887, integral component of plasma membrane, GO:0060760, positive regulation of response to cytokine stimulus, 25 72 40 27 29 36 26 32 27 ENSG00000186106 chr8 100509752 100559784 - ANKRD46 protein_coding This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 157567 GO:0016021, integral component of membrane, 17 18 34 18 15 29 13 25 29 ENSG00000186111 chr19 3630183 3700479 - PIP5K1C protein_coding This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]. 23396 GO:0098793, GO:0032587, GO:0010008, GO:0005925, GO:0005912, GO:0005829, GO:0005829, GO:0005654, GO:0001931, GO:0001891, presynapse, ruffle membrane, endosome membrane, focal adhesion, adherens junction, cytosol, cytosol, nucleoplasm, uropod, phagocytic cup, GO:0016308, GO:0005524, GO:0005515, 1-phosphatidylinositol-4-phosphate 5-kinase activity, ATP binding, protein binding, GO:0098609, GO:0072583, GO:0061024, GO:0048488, GO:0046854, GO:0034333, GO:0030593, GO:0030036, GO:0016079, GO:0014066, GO:0006909, GO:0006661, cell-cell adhesion, clathrin-dependent endocytosis, membrane organization, synaptic vesicle endocytosis, phosphatidylinositol phosphorylation, adherens junction assembly, neutrophil chemotaxis, actin cytoskeleton organization, synaptic vesicle exocytosis, regulation of phosphatidylinositol 3-kinase signaling, phagocytosis, phosphatidylinositol biosynthetic process, 340 425 449 322 417 369 301 305 315 ENSG00000186113 chr11 55795556 55796500 + OR5D14 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219436 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186115 chr19 15878023 15898120 - CYP4F2 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008]. 8529 GO:0043231, GO:0043231, GO:0016324, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, apical plasma membrane, endoplasmic reticulum membrane, cytoplasm, GO:0070330, GO:0052872, GO:0052871, GO:0052869, GO:0050051, GO:0050051, GO:0020037, GO:0018685, GO:0016709, GO:0008392, GO:0008391, GO:0005515, GO:0005506, aromatase activity, tocotrienol omega-hydroxylase activity, alpha-tocopherol omega-hydroxylase activity, arachidonic acid omega-hydroxylase activity, leukotriene-B4 20-monooxygenase activity, leukotriene-B4 20-monooxygenase activity, heme binding, alkane 1-monooxygenase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, arachidonic acid epoxygenase activity, arachidonic acid monooxygenase activity, protein binding, iron ion binding, GO:0097267, GO:0055114, GO:0055078, GO:0042377, GO:0042377, GO:0042376, GO:0042376, GO:0042376, GO:0042361, GO:0042361, GO:0042360, GO:0036101, GO:0036101, GO:0032305, GO:0032304, GO:0019373, GO:0019369, GO:0019369, GO:0017144, GO:0008217, GO:0007596, GO:0006691, GO:0006690, GO:0003095, GO:0003091, GO:0001676, GO:0000038, omega-hydroxylase P450 pathway, oxidation-reduction process, sodium ion homeostasis, vitamin K catabolic process, vitamin K catabolic process, phylloquinone catabolic process, phylloquinone catabolic process, phylloquinone catabolic process, menaquinone catabolic process, menaquinone catabolic process, vitamin E metabolic process, leukotriene B4 catabolic process, leukotriene B4 catabolic process, positive regulation of icosanoid secretion, negative regulation of icosanoid secretion, epoxygenase P450 pathway, arachidonic acid metabolic process, arachidonic acid metabolic process, drug metabolic process, regulation of blood pressure, blood coagulation, leukotriene metabolic process, icosanoid metabolic process, pressure natriuresis, renal water homeostasis, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 2 7 5 10 11 5 10 4 1 ENSG00000186118 chr1 46668855 46673594 + TEX38 protein_coding 374973 GO:0016021, integral component of membrane, 0 2 1 2 0 0 0 2 0 ENSG00000186119 chr11 55819607 55820597 + OR5D18 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219438 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186124 chr11 55850347 55858547 + OR9M1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186130 chr9 122908056 122913330 - ZBTB6 protein_coding 10773 GO:0005739, GO:0005654, GO:0005654, GO:0005634, mitochondrion, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003677, GO:0001227, GO:0000978, metal ion binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 98 82 167 28 22 32 26 25 30 ENSG00000186132 chr2 119302225 119366828 - C2orf76 protein_coding 130355 GO:0005515, protein binding, 26 22 50 24 34 37 27 31 14 ENSG00000186136 chr12 11185993 11186937 - TAS2R42 protein_coding 353164 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0004930, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000186141 chr1 145824088 145842505 + POLR3C protein_coding 10623 GO:0005829, GO:0005666, GO:0005666, GO:0005654, GO:0005654, cytosol, RNA polymerase III complex, RNA polymerase III complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003899, GO:0003697, protein binding, DNA-directed 5'-3' RNA polymerase activity, single-stranded DNA binding, GO:0051607, GO:0045089, GO:0045087, GO:0032728, GO:0032481, GO:0006359, GO:0006351, defense response to virus, positive regulation of innate immune response, innate immune response, positive regulation of interferon-beta production, positive regulation of type I interferon production, regulation of transcription by RNA polymerase III, transcription, DNA-templated, 42 26 36 40 36 39 54 27 46 ENSG00000186143 chr2 27136848 27139410 - PRR30 protein_coding 339779 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000186146 chr4 9444534 9450514 + DEFB131A protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 4p16. [provided by RefSeq, Nov 2014]. 644414 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0005515, protein binding, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000186148 chr2 109933161 109974085 + AC013268.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186150 chr1 110112468 110113945 + UBL4B protein_coding 164153 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:1903955, positive regulation of protein targeting to mitochondrion, 0 0 0 0 0 0 0 0 0 ENSG00000186152 chr19 54696604 54700905 + LILRP1 unprocessed_pseudogene 0 1 0 0 0 0 1 0 0 ENSG00000186153 chr16 78099413 79212667 + WWOX protein_coding This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. 51741 GO:0090575, GO:0005902, GO:0005886, GO:0005829, GO:0005829, GO:0005794, GO:0005739, GO:0005737, GO:0005654, GO:0005634, RNA polymerase II transcription regulator complex, microvillus, plasma membrane, cytosol, cytosol, Golgi apparatus, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0019899, GO:0016491, GO:0005515, GO:0003713, enzyme binding, oxidoreductase activity, protein binding, transcription coactivator activity, GO:2001241, GO:2001238, GO:0097191, GO:0072332, GO:0071560, GO:0055114, GO:0048705, GO:0045944, GO:0030178, GO:0016055, GO:0001649, GO:0000122, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, intrinsic apoptotic signaling pathway by p53 class mediator, cellular response to transforming growth factor beta stimulus, oxidation-reduction process, skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, negative regulation of Wnt signaling pathway, Wnt signaling pathway, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, 7 3 9 14 14 20 4 9 20 ENSG00000186160 chr1 47067488 47118319 + CYP4Z1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008]. 199974 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0070330, GO:0020037, GO:0005506, aromatase activity, heme binding, iron ion binding, GO:0055114, oxidation-reduction process, 0 0 0 0 0 0 0 0 0 ENSG00000186162 chr3 10014238 10026365 - CIDECP transcribed_unprocessed_pseudogene 164 161 194 189 244 226 155 160 257 ENSG00000186163 chr7 142265833 142272235 - TRY2P transcribed_unitary_pseudogene 207147 0 0 0 0 0 0 0 0 0 ENSG00000186166 chr11 118998142 119015791 + CCDC84 protein_coding This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 338657 GO:0005813, GO:0005737, centrosome, cytoplasm, GO:0005515, protein binding, GO:0042176, GO:0010826, regulation of protein catabolic process, negative regulation of centrosome duplication, 144 174 198 234 292 357 301 210 253 ENSG00000186174 chr11 118893875 118925608 - BCL9L protein_coding 283149 GO:1990907, GO:1990907, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, beta-catenin-TCF complex, beta-catenin-TCF complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0008013, GO:0008013, GO:0003713, beta-catenin binding, beta-catenin binding, transcription coactivator activity, GO:1904837, GO:0060070, GO:0045944, GO:0045944, GO:0035914, GO:0035019, GO:0030512, GO:0030512, GO:0022604, GO:0010718, beta-catenin-TCF complex assembly, canonical Wnt signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, skeletal muscle cell differentiation, somatic stem cell population maintenance, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, regulation of cell morphogenesis, positive regulation of epithelial to mesenchymal transition, 250 251 542 292 138 337 379 148 346 ENSG00000186184 chr13 27620742 27744237 + POLR1D protein_coding The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]. 51082 GO:0005736, GO:0005666, RNA polymerase I complex, RNA polymerase III complex, GO:0046983, GO:0005515, GO:0003899, GO:0003677, protein dimerization activity, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, GO:0006351, transcription, DNA-templated, 234 166 237 373 336 436 285 276 277 ENSG00000186185 chr17 44924709 44947711 - KIF18B protein_coding 146909 GO:1990752, GO:1990023, GO:0061673, GO:0035371, GO:0016604, GO:0005874, GO:0005871, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000235, microtubule end, mitotic spindle midzone, mitotic spindle astral microtubule, microtubule plus-end, nuclear body, microtubule, kinesin complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, astral microtubule, GO:0019894, GO:0016887, GO:0008574, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003774, kinesin binding, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, protein binding, microtubule motor activity, motor activity, GO:0051302, GO:0051301, GO:0007019, GO:0007019, GO:0007018, GO:0000278, GO:0000070, regulation of cell division, cell division, microtubule depolymerization, microtubule depolymerization, microtubule-based movement, mitotic cell cycle, mitotic sister chromatid segregation, 0 0 1 7 4 0 0 0 0 ENSG00000186187 chr16 74999030 75110994 + ZNRF1 protein_coding This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]. 84937 GO:0030672, GO:0016020, GO:0005829, GO:0005829, GO:0005768, GO:0005764, synaptic vesicle membrane, membrane, cytosol, cytosol, endosome, lysosome, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0070936, GO:0043161, GO:0000209, protein K48-linked ubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, protein polyubiquitination, 45 34 57 47 41 56 58 50 44 ENSG00000186188 chr10 93566665 93604480 + FFAR4 protein_coding This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 338557 GO:0060170, GO:0030139, GO:0010008, GO:0005929, GO:0005887, GO:0005886, GO:0005886, GO:0005765, ciliary membrane, endocytic vesicle, endosome membrane, cilium, integral component of plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, GO:0008527, GO:0005504, GO:0005504, GO:0004930, taste receptor activity, fatty acid binding, fatty acid binding, G protein-coupled receptor activity, GO:0120162, GO:0090336, GO:0090275, GO:0070374, GO:0070094, GO:0050912, GO:0050873, GO:0050872, GO:0050728, GO:0046879, GO:0045669, GO:0043950, GO:0043066, GO:0036321, GO:0032691, GO:0010827, GO:0007204, GO:0007200, GO:0007186, GO:0007186, GO:0006954, GO:0001818, positive regulation of cold-induced thermogenesis, positive regulation of brown fat cell differentiation, negative regulation of somatostatin secretion, positive regulation of ERK1 and ERK2 cascade, positive regulation of glucagon secretion, detection of chemical stimulus involved in sensory perception of taste, brown fat cell differentiation, white fat cell differentiation, negative regulation of inflammatory response, hormone secretion, positive regulation of osteoblast differentiation, positive regulation of cAMP-mediated signaling, negative regulation of apoptotic process, ghrelin secretion, negative regulation of interleukin-1 beta production, regulation of glucose transmembrane transport, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, negative regulation of cytokine production, 1 0 0 0 0 0 0 0 0 ENSG00000186190 chr20 33055424 33073628 + BPIFB3 protein_coding 359710 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0008289, GO:0005515, lipid binding, protein binding, GO:0045087, innate immune response, 0 0 0 0 0 0 0 0 0 ENSG00000186191 chr20 33079644 33111751 + BPIFB4 protein_coding 149954 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0008289, lipid binding, 0 0 0 0 0 0 0 0 0 ENSG00000186193 chr9 137062124 137070588 - SAPCD2 protein_coding 89958 GO:0045179, GO:0043296, GO:0016324, GO:0005923, GO:0005829, GO:0005730, GO:0005654, apical cortex, apical junction complex, apical plasma membrane, bicellular tight junction, cytosol, nucleolus, nucleoplasm, GO:0005515, protein binding, GO:1904777, GO:0098725, GO:0090175, GO:0008284, GO:0000132, negative regulation of protein localization to cell cortex, symmetric cell division, regulation of establishment of planar polarity, positive regulation of cell population proliferation, establishment of mitotic spindle orientation, 14 24 33 6 16 15 11 9 10 ENSG00000186197 chr1 236348257 236502915 + EDARADD protein_coding This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 128178 GO:0005829, cytosol, GO:0005515, protein binding, GO:1901224, GO:0033209, GO:0030154, GO:0007275, positive regulation of NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, cell differentiation, multicellular organism development, 3 1 4 3 3 7 2 1 0 ENSG00000186198 chr15 65045370 65053396 + SLC51B protein_coding 123264 GO:0032991, GO:0032991, GO:0016323, GO:0016021, GO:0016021, GO:0005886, GO:0005886, protein-containing complex, protein-containing complex, basolateral plasma membrane, integral component of membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0046982, GO:0015125, GO:0005515, GO:0005215, protein heterodimerization activity, bile acid transmembrane transporter activity, protein binding, transporter activity, GO:0090314, GO:0070863, GO:0060050, GO:0055085, GO:0032782, GO:0031647, GO:0015721, GO:0015721, positive regulation of protein targeting to membrane, positive regulation of protein exit from endoplasmic reticulum, positive regulation of protein glycosylation, transmembrane transport, bile acid secretion, regulation of protein stability, bile acid and bile salt transport, bile acid and bile salt transport, 0 0 0 0 0 0 0 0 0 ENSG00000186204 chr19 15672757 15697174 + CYP4F12 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 66002 GO:0043231, GO:0043231, GO:0016324, GO:0016021, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, apical plasma membrane, integral component of membrane, endoplasmic reticulum membrane, cytoplasm, GO:0070330, GO:0050051, GO:0050051, GO:0020037, GO:0018685, GO:0008392, GO:0008391, GO:0005515, GO:0005506, aromatase activity, leukotriene-B4 20-monooxygenase activity, leukotriene-B4 20-monooxygenase activity, heme binding, alkane 1-monooxygenase activity, arachidonic acid epoxygenase activity, arachidonic acid monooxygenase activity, protein binding, iron ion binding, GO:0055114, GO:0055078, GO:0042377, GO:0042376, GO:0042361, GO:0042360, GO:0036101, GO:0036101, GO:0019373, GO:0019369, GO:0019369, GO:0017144, GO:0003095, GO:0003091, GO:0001676, GO:0000038, oxidation-reduction process, sodium ion homeostasis, vitamin K catabolic process, phylloquinone catabolic process, menaquinone catabolic process, vitamin E metabolic process, leukotriene B4 catabolic process, leukotriene B4 catabolic process, epoxygenase P450 pathway, arachidonic acid metabolic process, arachidonic acid metabolic process, drug metabolic process, pressure natriuresis, renal water homeostasis, long-chain fatty acid metabolic process, very long-chain fatty acid metabolic process, 44 85 136 68 156 110 61 66 74 ENSG00000186205 chr1 220786759 220819657 + MARC1 protein_coding 64757 GO:1903958, GO:0016021, GO:0005741, GO:0005739, GO:0005739, nitric-oxide synthase complex, integral component of membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0098809, GO:0050421, GO:0043546, GO:0043546, GO:0030170, GO:0030151, GO:0030151, GO:0016661, GO:0008940, GO:0008940, GO:0005515, nitrite reductase activity, nitrite reductase (NO-forming) activity, molybdopterin cofactor binding, molybdopterin cofactor binding, pyridoxal phosphate binding, molybdenum ion binding, molybdenum ion binding, oxidoreductase activity, acting on other nitrogenous compounds as donors, nitrate reductase activity, nitrate reductase activity, protein binding, GO:0070458, GO:0055114, GO:0055114, GO:0051410, GO:0042126, GO:0042126, GO:0006809, GO:0006805, cellular detoxification of nitrogen compound, oxidation-reduction process, oxidation-reduction process, detoxification of nitrogen compound, nitrate metabolic process, nitrate metabolic process, nitric oxide biosynthetic process, xenobiotic metabolic process, 235 342 396 96 365 270 182 332 286 ENSG00000186207 chr1 152510844 152512177 + LCE5A protein_coding 254910 GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186212 chr4 76894928 76898147 - SOWAHB protein_coding 345079 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000186222 chr4 6716055 6717671 + BLOC1S4 protein_coding This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]. 55330 GO:1904115, GO:0031083, GO:0031083, GO:0005829, GO:0005737, axon cytoplasm, BLOC-1 complex, BLOC-1 complex, cytosol, cytoplasm, GO:0005515, protein binding, GO:0070527, GO:0050885, GO:0048490, GO:0032438, GO:0031175, GO:0008089, platelet aggregation, neuromuscular process controlling balance, anterograde synaptic vesicle transport, melanosome organization, neuron projection development, anterograde axonal transport, 45 33 61 22 21 32 24 22 21 ENSG00000186226 chr1 152786214 152788426 + LCE1E protein_coding 353135 GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186230 chr19 57435329 57445485 + ZNF749 protein_coding 388567 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 4 2 10 9 6 17 5 3 9 ENSG00000186231 chr6 96924620 97140754 + KLHL32 protein_coding 114792 GO:0005515, protein binding, 0 2 4 3 0 4 1 1 4 ENSG00000186234 chr4 9692495 9702954 + FAM86MP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186235 chr2 238224552 238231677 - AC016757.1 processed_transcript 151174 1 0 0 0 0 1 0 0 0 ENSG00000186244 chr17 49400429 49400800 - AC091180.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186260 chr16 14071321 14266773 + MRTFB protein_coding 57496 GO:0005634, GO:0005634, nucleus, nucleus, GO:0045296, GO:0005515, GO:0003713, GO:0003713, cadherin binding, protein binding, transcription coactivator activity, transcription coactivator activity, GO:0051145, GO:0045944, GO:0045944, GO:0045844, GO:0007517, smooth muscle cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of striated muscle tissue development, muscle organ development, 10 4 34 30 17 38 53 5 49 ENSG00000186265 chr3 112463968 112499561 - BTLA protein_coding This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]. 151888 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0031295, GO:0002768, GO:0002250, T cell costimulation, immune response-regulating cell surface receptor signaling pathway, adaptive immune response, 16 26 19 43 48 55 50 37 48 ENSG00000186268 chr11 124093582 124094532 - OR10D4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186272 chr19 57411163 57421939 + ZNF17 protein_coding 7565 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 11 10 13 9 12 7 9 14 16 ENSG00000186280 chr11 94973681 94999518 + KDM4D protein_coding 55693 GO:0072562, GO:0035861, GO:0035097, GO:0005721, GO:0005654, blood microparticle, site of double-strand break, histone methyltransferase complex, pericentric heterochromatin, nucleoplasm, GO:0051213, GO:0046872, GO:0032454, GO:0032454, GO:0032452, GO:0031490, GO:0005515, GO:0003684, dioxygenase activity, metal ion binding, histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity, chromatin DNA binding, protein binding, damaged DNA binding, GO:2001034, GO:1900113, GO:0071479, GO:0055114, GO:0035563, GO:0033169, GO:0006338, GO:0001932, GO:0000724, positive regulation of double-strand break repair via nonhomologous end joining, negative regulation of histone H3-K9 trimethylation, cellular response to ionizing radiation, oxidation-reduction process, positive regulation of chromatin binding, histone H3-K9 demethylation, chromatin remodeling, regulation of protein phosphorylation, double-strand break repair via homologous recombination, 0 0 0 0 0 0 0 0 0 ENSG00000186281 chr2 96021946 96039451 - GPAT2 protein_coding 150763 GO:0031966, GO:0016021, GO:0005741, GO:0005741, GO:0005739, GO:0005739, mitochondrial membrane, integral component of membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0102420, GO:0004366, GO:0004366, GO:0003841, sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity, glycerol-3-phosphate O-acyltransferase activity, glycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:1990511, GO:1990511, GO:0019432, GO:0019432, GO:0016024, GO:0008654, GO:0006654, GO:0006654, GO:0006631, GO:0006072, GO:0006072, piRNA biosynthetic process, piRNA biosynthetic process, triglyceride biosynthetic process, triglyceride biosynthetic process, CDP-diacylglycerol biosynthetic process, phospholipid biosynthetic process, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, fatty acid metabolic process, glycerol-3-phosphate metabolic process, glycerol-3-phosphate metabolic process, 1 3 0 7 0 4 7 0 5 ENSG00000186283 chr1 179081377 179098023 + TOR3A protein_coding 64222 GO:0070062, GO:0005788, GO:0005788, GO:0005783, GO:0005635, extracellular exosome, endoplasmic reticulum lumen, endoplasmic reticulum lumen, endoplasmic reticulum, nuclear envelope, GO:0016887, GO:0016887, GO:0005524, ATPase activity, ATPase activity, ATP binding, 55 39 70 59 38 71 59 38 59 ENSG00000186288 chrX 73077276 73079512 - PABPC1L2A protein_coding 340529 GO:0070062, extracellular exosome, GO:0003723, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000186297 chr15 26866363 26949207 + GABRA5 protein_coding GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]. 2558 GO:1902711, GO:0099060, GO:0099056, GO:0098982, GO:0098794, GO:0045202, GO:0043005, GO:0034707, GO:0032809, GO:0032590, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005654, GABA-A receptor complex, integral component of postsynaptic specialization membrane, integral component of presynaptic membrane, GABA-ergic synapse, postsynapse, synapse, neuron projection, chloride channel complex, neuronal cell body membrane, dendrite membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, GO:1904315, GO:0050811, GO:0038023, GO:0030594, GO:0022851, GO:0008503, GO:0005254, GO:0005237, GO:0005215, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, GABA receptor binding, signaling receptor activity, neurotransmitter receptor activity, GABA-gated chloride ion channel activity, benzodiazepine receptor activity, chloride channel activity, inhibitory extracellular ligand-gated ion channel activity, transporter activity, GABA-A receptor activity, GO:1902476, GO:0090102, GO:0060384, GO:0060119, GO:0060078, GO:0051932, GO:0050877, GO:0043524, GO:0042391, GO:0034220, GO:0008306, GO:0007605, GO:0007420, GO:0007268, GO:0007214, GO:0007165, GO:0001662, chloride transmembrane transport, cochlea development, innervation, inner ear receptor cell development, regulation of postsynaptic membrane potential, synaptic transmission, GABAergic, nervous system process, negative regulation of neuron apoptotic process, regulation of membrane potential, ion transmembrane transport, associative learning, sensory perception of sound, brain development, chemical synaptic transmission, gamma-aminobutyric acid signaling pathway, signal transduction, behavioral fear response, 0 0 0 0 0 0 0 0 0 ENSG00000186298 chr12 110719680 110742939 - PPP1CC protein_coding The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and gamma, which have distinct localization patterns. This gene encodes the gamma isozyme. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 5501 GO:0098793, GO:0072357, GO:0043197, GO:0032991, GO:0032154, GO:0030496, GO:0016607, GO:0005925, GO:0005829, GO:0005741, GO:0005739, GO:0005737, GO:0005737, GO:0005730, GO:0005634, GO:0005634, GO:0005634, GO:0000781, GO:0000777, GO:0000164, presynapse, PTW/PP1 phosphatase complex, dendritic spine, protein-containing complex, cleavage furrow, midbody, nuclear speck, focal adhesion, cytosol, mitochondrial outer membrane, mitochondrion, cytoplasm, cytoplasm, nucleolus, nucleus, nucleus, nucleus, chromosome, telomeric region, condensed chromosome kinetochore, protein phosphatase type 1 complex, GO:0106307, GO:0106306, GO:0047485, GO:0046872, GO:0044877, GO:0019904, GO:0019901, GO:0016791, GO:0008157, GO:0008022, GO:0005521, GO:0005515, GO:0004722, GO:0004722, GO:0004721, GO:0003723, protein threonine phosphatase activity, protein serine phosphatase activity, protein N-terminus binding, metal ion binding, protein-containing complex binding, protein domain specific binding, protein kinase binding, phosphatase activity, protein phosphatase 1 binding, protein C-terminus binding, lamin binding, protein binding, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, phosphoprotein phosphatase activity, RNA binding, GO:0060252, GO:0051301, GO:0046822, GO:0043153, GO:0042752, GO:0032922, GO:0030182, GO:0007049, GO:0006470, GO:0006470, GO:0005977, positive regulation of glial cell proliferation, cell division, regulation of nucleocytoplasmic transport, entrainment of circadian clock by photoperiod, regulation of circadian rhythm, circadian regulation of gene expression, neuron differentiation, cell cycle, protein dephosphorylation, protein dephosphorylation, glycogen metabolic process, 554 475 579 254 428 354 355 483 317 ENSG00000186300 chr19 2841435 2860484 + ZNF555 protein_coding 148254 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 33 16 35 53 23 51 46 38 54 ENSG00000186301 chr1 16645622 16650289 + MST1P2 unprocessed_pseudogene 0 1 6 5 0 8 1 4 4 ENSG00000186306 chr1 158398522 158399466 - OR10T2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 128360 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186310 chrX 93670930 93673568 - NAP1L3 protein_coding This gene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This gene is linked closely to a region of genes responsible for several X-linked cognitive disability syndromes. [provided by RefSeq, Dec 2010]. 4675 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0030154, GO:0006334, cell differentiation, nucleosome assembly, 2 1 1 6 4 2 1 0 2 ENSG00000186312 chrX 15674932 15703724 + CA5BP1 transcribed_unprocessed_pseudogene 340591 GO:0005739, mitochondrion, GO:0008270, GO:0004089, zinc ion binding, carbonate dehydratase activity, 173 226 248 133 136 202 200 109 147 ENSG00000186314 chr5 145471799 145835369 - PRELID2 protein_coding 153768 GO:0005758, mitochondrial intermembrane space, GO:1990050, phosphatidic acid transfer activity, GO:0120009, GO:0015914, intermembrane lipid transfer, phospholipid transport, 0 0 1 0 0 2 2 1 0 ENSG00000186318 chr11 117285207 117316259 - BACE1 protein_coding This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]. 23621 GO:0098686, GO:0070931, GO:0055037, GO:0045121, GO:0043025, GO:0030659, GO:0030425, GO:0030424, GO:0016021, GO:0016020, GO:0010008, GO:0009986, GO:0009986, GO:0008021, GO:0005887, GO:0005886, GO:0005886, GO:0005802, GO:0005802, GO:0005794, GO:0005788, GO:0005771, GO:0005770, GO:0005769, GO:0005768, GO:0005768, GO:0005764, hippocampal mossy fiber to CA3 synapse, Golgi-associated vesicle lumen, recycling endosome, membrane raft, neuronal cell body, cytoplasmic vesicle membrane, dendrite, axon, integral component of membrane, membrane, endosome membrane, cell surface, cell surface, synaptic vesicle, integral component of plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, trans-Golgi network, Golgi apparatus, endoplasmic reticulum lumen, multivesicular body, late endosome, early endosome, endosome, endosome, lysosome, GO:0019899, GO:0008798, GO:0008233, GO:0005515, GO:0004190, GO:0004175, GO:0001540, enzyme binding, beta-aspartyl-peptidase activity, peptidase activity, protein binding, aspartic-type endopeptidase activity, endopeptidase activity, amyloid-beta binding, GO:2000300, GO:1904646, GO:0071287, GO:0071280, GO:0060134, GO:0050966, GO:0050435, GO:0050435, GO:0044267, GO:0043525, GO:0042987, GO:0034205, GO:0010288, GO:0009314, GO:0006509, GO:0006509, GO:0006509, GO:0006508, regulation of synaptic vesicle exocytosis, cellular response to amyloid-beta, cellular response to manganese ion, cellular response to copper ion, prepulse inhibition, detection of mechanical stimulus involved in sensory perception of pain, amyloid-beta metabolic process, amyloid-beta metabolic process, cellular protein metabolic process, positive regulation of neuron apoptotic process, amyloid precursor protein catabolic process, amyloid-beta formation, response to lead ion, response to radiation, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, membrane protein ectodomain proteolysis, proteolysis, 13 20 21 39 24 36 29 16 27 ENSG00000186326 chr19 32675407 32678300 + RGS9BP protein_coding The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010]. 388531 GO:0016021, GO:0001750, integral component of membrane, photoreceptor outer segment, GO:0050908, GO:0009968, detection of light stimulus involved in visual perception, negative regulation of signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000186328 chr6 34715613 34715940 + AL451165.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186329 chr3 171843349 171938715 + TMEM212 protein_coding 389177 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000186334 chr5 151276762 151303766 - SLC36A3 protein_coding 285641 GO:0016021, integral component of membrane, GO:0015193, GO:0015187, GO:0015180, GO:0015171, GO:0005280, L-proline transmembrane transporter activity, glycine transmembrane transporter activity, L-alanine transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid:proton symporter activity, GO:1902600, GO:0035524, GO:0015816, GO:0015808, GO:0003333, proton transmembrane transport, proline transmembrane transport, glycine transport, L-alanine transport, amino acid transmembrane transport, 0 0 0 0 0 0 1 0 0 ENSG00000186335 chr5 151314978 151347590 - SLC36A2 protein_coding This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]. 153201 GO:0070062, GO:0016021, GO:0005886, GO:0005737, extracellular exosome, integral component of membrane, plasma membrane, cytoplasm, GO:0015193, GO:0015187, GO:0015187, GO:0015180, GO:0015171, GO:0015171, GO:0005280, L-proline transmembrane transporter activity, glycine transmembrane transporter activity, glycine transmembrane transporter activity, L-alanine transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid:proton symporter activity, GO:1902600, GO:0035524, GO:0035524, GO:0015816, GO:0015808, GO:0006865, GO:0006811, GO:0003333, proton transmembrane transport, proline transmembrane transport, proline transmembrane transport, glycine transport, L-alanine transport, amino acid transport, ion transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000186340 chr6 169215780 169254044 - THBS2 protein_coding The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008]. 7058 GO:0062023, GO:0062023, GO:0031091, GO:0005604, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, platelet alpha granule, basement membrane, extracellular region, extracellular region, GO:0008201, GO:0005515, GO:0005509, GO:0005201, heparin binding, protein binding, calcium ion binding, extracellular matrix structural constituent, GO:0051965, GO:0016525, GO:0016525, GO:0007155, positive regulation of synapse assembly, negative regulation of angiogenesis, negative regulation of angiogenesis, cell adhesion, 0 0 2 0 1 0 3 0 0 ENSG00000186350 chr9 134317098 134440585 + RXRA protein_coding Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]. 6256 GO:0090575, GO:0090575, GO:0043235, GO:0005739, GO:0005654, GO:0005634, GO:0000785, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, RNA polymerase II transcription regulator complex, receptor complex, mitochondrion, nucleoplasm, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0070644, GO:0050693, GO:0050692, GO:0044323, GO:0044323, GO:0043565, GO:0042809, GO:0042802, GO:0042277, GO:0031490, GO:0019899, GO:0016922, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0004879, GO:0003707, GO:0003700, GO:0003690, GO:0001972, GO:0001162, GO:0000981, GO:0000978, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, vitamin D response element binding, LBD domain binding, DNA binding domain binding, retinoic acid-responsive element binding, retinoic acid-responsive element binding, sequence-specific DNA binding, vitamin D receptor binding, identical protein binding, peptide binding, chromatin DNA binding, enzyme binding, nuclear receptor binding, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription factor activity, double-stranded DNA binding, retinoic acid binding, RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060687, GO:0060528, GO:0060038, GO:0055012, GO:0055010, GO:0048856, GO:0048384, GO:0048384, GO:0045994, GO:0045944, GO:0045944, GO:0045893, GO:0043401, GO:0043010, GO:0035357, GO:0032526, GO:0032526, GO:0030154, GO:0019216, GO:0019048, GO:0015721, GO:0008203, GO:0007566, GO:0006367, GO:0006357, GO:0001893, GO:0001701, GO:0000122, GO:0000122, regulation of branching involved in prostate gland morphogenesis, secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development, cardiac muscle cell proliferation, ventricular cardiac muscle cell differentiation, ventricular cardiac muscle tissue morphogenesis, anatomical structure development, retinoic acid receptor signaling pathway, retinoic acid receptor signaling pathway, positive regulation of translational initiation by iron, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, steroid hormone mediated signaling pathway, camera-type eye development, peroxisome proliferator activated receptor signaling pathway, response to retinoic acid, response to retinoic acid, cell differentiation, regulation of lipid metabolic process, modulation by virus of host process, bile acid and bile salt transport, cholesterol metabolic process, embryo implantation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, maternal placenta development, in utero embryonic development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 4324 4161 5300 2513 3306 3361 3207 2837 2817 ENSG00000186352 chr4 185396021 185400628 + ANKRD37 protein_coding 353322 GO:0005829, GO:0005739, GO:0005654, cytosol, mitochondrion, nucleoplasm, GO:0005515, protein binding, 26 33 40 341 553 328 195 347 210 ENSG00000186364 chr1 145845629 145848953 + NUDT17 protein_coding 200035 GO:0005829, GO:0005777, cytosol, peroxisome, GO:0046872, GO:0035529, metal ion binding, NADH pyrophosphatase activity, GO:0019677, GO:0006742, GO:0006734, NAD catabolic process, NADP catabolic process, NADH metabolic process, 11 6 10 23 10 13 20 14 5 ENSG00000186367 chr5 129748079 129766732 + KIAA1024L protein_coding 100127206 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000186369 chr14 62114353 62130962 + LINC00643 transcribed_unitary_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000186376 chrX 135248920 135344087 - ZNF75D protein_coding This gene encodes a protein that likely functions as a transcription factor. The protein, which belongs to the ZNF75 family, includes an N-terminal SCAN domain, a KRAB box, and five C2H2-type zinc finger motifs. Another functional gene belonging to this family is located on chromosome 16, while pseudogenes have been identified on chromosomes 11 and 12. Alternative splicing results in multiple transcripts variants. [provided by RefSeq, Jun 2010]. 7626 GO:0000785, chromatin, GO:0008270, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 130 136 150 106 115 99 118 120 86 ENSG00000186377 chr1 47023568 47050751 + CYP4X1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 260293 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0062189, GO:0020037, GO:0005506, anandamide 14,15 epoxidase activity, heme binding, iron ion binding, GO:0055114, oxidation-reduction process, 0 0 0 0 0 0 0 0 0 ENSG00000186393 chr17 40766238 40772162 - KRT26 protein_coding The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq, Jul 2009]. 353288 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186395 chr17 40818117 40822595 - KRT10 protein_coding This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]. 3858 GO:0070062, GO:0016020, GO:0009986, GO:0005882, GO:0005829, GO:0005737, GO:0005634, GO:0005615, GO:0001533, extracellular exosome, membrane, cell surface, intermediate filament, cytosol, cytoplasm, nucleus, extracellular space, cornified envelope, GO:0046982, GO:0030280, GO:0030280, GO:0005515, protein heterodimerization activity, structural constituent of skin epidermis, structural constituent of skin epidermis, protein binding, GO:0070268, GO:0051290, GO:0045684, GO:0031424, GO:0030216, GO:0018149, cornification, protein heterotetramerization, positive regulation of epidermis development, keratinization, keratinocyte differentiation, peptide cross-linking, 24 29 44 52 31 57 38 21 44 ENSG00000186399 chr15 30403740 30414162 - GOLGA8R protein_coding 101059918 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 5 7 1 1 1 17 0 0 0 ENSG00000186407 chr17 74609887 74623738 - CD300E protein_coding This gene encodes a member of the CD300 glycoprotein family of cell surface proteins expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase-binding protein and is thought to act as an activating receptor. [provided by RefSeq, Nov 2012]. 342510 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0045087, regulation of immune response, innate immune response, 31 64 92 75 84 82 76 65 76 ENSG00000186409 chr1 42463330 42654664 + CCDC30 protein_coding 728621 37 49 71 58 76 50 93 56 52 ENSG00000186416 chrX 119588337 119606443 - NKRF protein_coding This gene encodes a transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 55922 GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0001228, GO:0000978, GO:0000978, protein binding, RNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045892, GO:0045892, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, 37 57 130 52 40 109 57 36 55 ENSG00000186417 chr15 51341629 51408013 + GLDN protein_coding This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]. 342035 GO:0030424, GO:0016021, GO:0009986, GO:0005886, GO:0005615, GO:0005581, axon, integral component of membrane, cell surface, plasma membrane, extracellular space, collagen trimer, GO:0086080, protein binding involved in heterotypic cell-cell adhesion, GO:0045162, GO:0034113, GO:0032528, clustering of voltage-gated sodium channels, heterotypic cell-cell adhesion, microvillus organization, 0 1 0 1 3 0 0 2 0 ENSG00000186431 chr19 54874248 54890472 + FCAR protein_coding This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 2204 GO:0101003, GO:0070821, GO:0035579, GO:0005887, GO:0005886, GO:0005886, GO:0005576, ficolin-1-rich granule membrane, tertiary granule membrane, specific granule membrane, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0019862, IgA binding, GO:0043312, GO:0006955, neutrophil degranulation, immune response, 1 0 1 0 1 3 0 1 1 ENSG00000186432 chr3 160494995 160565588 - KPNA4 protein_coding The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]. 3840 GO:0031965, GO:0005829, GO:0005654, GO:0005654, GO:0005654, GO:0005634, nuclear membrane, cytosol, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0061608, GO:0008139, GO:0005515, nuclear import signal receptor activity, nuclear localization sequence binding, protein binding, GO:0042542, GO:0019054, GO:0006607, response to hydrogen peroxide, modulation by virus of host cellular process, NLS-bearing protein import into nucleus, 1475 1507 1773 758 1017 1094 908 984 779 ENSG00000186439 chr6 123216339 123637093 - TRDN protein_coding This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011]. 10345 GO:0033018, GO:0033017, GO:0030314, GO:0016529, GO:0016021, GO:0014701, GO:0014701, GO:0014701, GO:0005886, GO:0005886, GO:0005829, GO:0005783, sarcoplasmic reticulum lumen, sarcoplasmic reticulum membrane, junctional membrane complex, sarcoplasmic reticulum, integral component of membrane, junctional sarcoplasmic reticulum membrane, junctional sarcoplasmic reticulum membrane, junctional sarcoplasmic reticulum membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, GO:0044325, GO:0044325, GO:0030674, GO:0005515, GO:0005102, ion channel binding, ion channel binding, protein-macromolecule adaptor activity, protein binding, signaling receptor binding, GO:1903779, GO:1901846, GO:0090158, GO:0086036, GO:0086036, GO:0060316, GO:0060316, GO:0060316, GO:0060315, GO:0060047, GO:0060047, GO:0051279, GO:0034220, GO:0031122, GO:0014808, GO:0010880, GO:0010880, GO:0010649, GO:0009617, GO:0006936, GO:0006874, regulation of cardiac conduction, positive regulation of cell communication by electrical coupling involved in cardiac conduction, endoplasmic reticulum membrane organization, regulation of cardiac muscle cell membrane potential, regulation of cardiac muscle cell membrane potential, positive regulation of ryanodine-sensitive calcium-release channel activity, positive regulation of ryanodine-sensitive calcium-release channel activity, positive regulation of ryanodine-sensitive calcium-release channel activity, negative regulation of ryanodine-sensitive calcium-release channel activity, heart contraction, heart contraction, regulation of release of sequestered calcium ion into cytosol, ion transmembrane transport, cytoplasmic microtubule organization, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of cell communication by electrical coupling, response to bacterium, muscle contraction, cellular calcium ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000186440 chr1 158560606 158570580 - OR6P1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 128366 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186442 chr12 52789685 52796117 - KRT3 protein_coding The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. 3850 GO:0070062, GO:0045095, GO:0005882, GO:0005829, extracellular exosome, keratin filament, intermediate filament, cytosol, GO:0005515, protein binding, GO:0070268, GO:0045104, GO:0031424, GO:0030855, cornification, intermediate filament cytoskeleton organization, keratinization, epithelial cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000186446 chr3 44729596 44737083 + ZNF501 protein_coding 115560 GO:0005730, GO:0005634, GO:0000785, nucleolus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007030, GO:0006357, Golgi organization, regulation of transcription by RNA polymerase II, 2 1 3 6 2 0 1 4 1 ENSG00000186448 chr3 44584888 44648471 + ZNF197 protein_coding This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fingers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3' UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This gene is located in a cluster of zinc finger genes at 3p21. Naturally-occurring readthrough transcription is observed between this gene and the upstream zinc finger protein 660 gene and is represented by GeneID:110354863. [provided by RefSeq, May 2017]. 10168 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 17 15 22 33 41 33 46 20 27 ENSG00000186451 chr3 57060441 57075432 + SPATA12 protein_coding This gene is expressed primarily in testis and may play a role in testicular development and spermatogenesis. The encoded protein may be upregulated in response to ultraviolet-C radiation. [provided by RefSeq, Dec 2015]. 353324 GO:0005515, protein binding, 0 0 2 0 0 0 0 0 0 ENSG00000186452 chr12 50842920 50887884 + TMPRSS12 protein_coding 283471 GO:0016021, integral component of membrane, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000186453 chr2 24175069 24200849 + FAM228A protein_coding 653140 GO:0005515, protein binding, 0 2 0 1 0 0 1 2 1 ENSG00000186458 chr20 257736 261096 + DEFB132 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]. 400830 GO:0061827, GO:0005615, sperm head, extracellular space, GO:0005515, protein binding, GO:0050829, GO:0045087, GO:0031640, defense response to Gram-negative bacterium, innate immune response, killing of cells of other organism, 0 0 0 0 0 0 0 0 0 ENSG00000186462 chrX 73212299 73214848 - NAP1L2 protein_coding The protein encoded by this intronless gene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to regulate neuronal cell proliferation. [provided by RefSeq, Jan 2011]. 4674 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:2000617, GO:2000035, GO:0071442, GO:0045666, GO:0030154, GO:0006334, positive regulation of histone H3-K9 acetylation, regulation of stem cell division, positive regulation of histone H3-K14 acetylation, positive regulation of neuron differentiation, cell differentiation, nucleosome assembly, 8 2 8 23 7 25 5 2 3 ENSG00000186466 chr9 63317067 63333091 - AQP7P1 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000186468 chr5 82273358 82278577 - RPS23 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6228 GO:0042788, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0005840, GO:0005840, GO:0005829, GO:0005829, GO:0005791, GO:0005783, GO:0005654, polysomal ribosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, ribosome, ribosome, cytosol, cytosol, rough endoplasmic reticulum, endoplasmic reticulum, nucleoplasm, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:1990145, GO:0034063, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0006412, GO:0002181, GO:0000184, maintenance of translational fidelity, stress granule assembly, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 631 448 1139 2258 1061 2381 1464 932 1689 ENSG00000186469 chr14 51826195 51979342 + GNG2 protein_coding This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]. 54331 GO:0070062, GO:0031680, GO:0016020, GO:0005886, GO:0005834, GO:0005834, extracellular exosome, G-protein beta/gamma-subunit complex, membrane, plasma membrane, heterotrimeric G-protein complex, heterotrimeric G-protein complex, GO:0031681, GO:0031681, GO:0005515, G-protein beta-subunit binding, G-protein beta-subunit binding, protein binding, GO:0071870, GO:0071380, GO:0030168, GO:0008283, GO:0007223, GO:0007191, GO:0007186, GO:0007186, GO:0006457, cellular response to catecholamine stimulus, cellular response to prostaglandin E stimulus, platelet activation, cell population proliferation, Wnt signaling pathway, calcium modulating pathway, adenylate cyclase-activating dopamine receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, protein folding, 2314 2229 4402 827 1260 1618 971 1197 1256 ENSG00000186470 chr6 26365159 26378320 + BTN3A2 protein_coding This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]. 11118 GO:0016021, GO:0016020, GO:0009897, GO:0005886, GO:0005886, integral component of membrane, membrane, external side of plasma membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:0050852, GO:0032609, GO:0002456, GO:0001817, T cell receptor signaling pathway, interferon-gamma production, T cell mediated immunity, regulation of cytokine production, 146 1199 1547 141 919 1115 104 781 897 ENSG00000186471 chrX 119895837 119920716 + AKAP14 protein_coding The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 158798 GO:0005952, GO:0005952, GO:0005930, cAMP-dependent protein kinase complex, cAMP-dependent protein kinase complex, axoneme, GO:0034237, GO:0034237, GO:0005515, protein kinase A regulatory subunit binding, protein kinase A regulatory subunit binding, protein binding, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000186472 chr7 82754013 83162930 - PCLO protein_coding The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 27445 GO:0098982, GO:0098978, GO:0070062, GO:0048788, GO:0048788, GO:0045202, GO:0030424, GO:0014069, GO:0005856, GABA-ergic synapse, glutamatergic synapse, extracellular exosome, cytoskeleton of presynaptic active zone, cytoskeleton of presynaptic active zone, synapse, axon, postsynaptic density, cytoskeleton, GO:0098882, GO:0005544, GO:0005522, GO:0005509, structural constituent of presynaptic active zone, calcium-dependent phospholipid binding, profilin binding, calcium ion binding, GO:1904071, GO:0099526, GO:0048790, GO:0035418, GO:0030073, GO:0019933, GO:0017157, GO:0016079, GO:0007010, presynaptic active zone assembly, presynapse to nucleus signaling pathway, maintenance of presynaptic active zone structure, protein localization to synapse, insulin secretion, cAMP-mediated signaling, regulation of exocytosis, synaptic vesicle exocytosis, cytoskeleton organization, 0 0 0 1 0 0 0 0 0 ENSG00000186474 chr19 51029092 51035230 - KLK12 protein_coding Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 43849 GO:0030141, GO:0005615, GO:0005576, secretory granule, extracellular space, extracellular region, GO:0008236, GO:0008233, GO:0004252, serine-type peptidase activity, peptidase activity, serine-type endopeptidase activity, GO:0070268, GO:0006508, cornification, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000186479 chr5 64506257 64612312 + RGS7BP protein_coding This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]. 401190 GO:0099031, GO:0099026, GO:0098978, GO:0005737, GO:0005634, anchored component of postsynaptic density membrane, anchored component of presynaptic membrane, glutamatergic synapse, cytoplasm, nucleus, GO:0060078, GO:0009968, GO:0007186, regulation of postsynaptic membrane potential, negative regulation of signal transduction, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186480 chr7 155297776 155310235 + INSIG1 protein_coding This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 3638 GO:0032937, GO:0032937, GO:0005789, GO:0005783, GO:0005783, SREBP-SCAP-Insig complex, SREBP-SCAP-Insig complex, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0008142, GO:0005515, oxysterol binding, protein binding, GO:1901303, GO:0070862, GO:0060363, GO:0060021, GO:0045717, GO:0045599, GO:0042632, GO:0042474, GO:0042472, GO:0036316, GO:0036316, GO:0036315, GO:0032933, GO:0032933, GO:0032869, GO:0016126, GO:0010894, GO:0006695, GO:0006695, GO:0006641, negative regulation of cargo loading into COPII-coated vesicle, negative regulation of protein exit from endoplasmic reticulum, cranial suture morphogenesis, roof of mouth development, negative regulation of fatty acid biosynthetic process, negative regulation of fat cell differentiation, cholesterol homeostasis, middle ear morphogenesis, inner ear morphogenesis, SREBP-SCAP complex retention in endoplasmic reticulum, SREBP-SCAP complex retention in endoplasmic reticulum, cellular response to sterol, SREBP signaling pathway, SREBP signaling pathway, cellular response to insulin stimulus, sterol biosynthetic process, negative regulation of steroid biosynthetic process, cholesterol biosynthetic process, cholesterol biosynthetic process, triglyceride metabolic process, 967 1514 1308 5658 10113 7201 6160 7865 5999 ENSG00000186481 chr18 14179097 14252140 + ANKRD20A5P transcribed_unprocessed_pseudogene 1 0 9 6 0 7 4 0 5 ENSG00000186487 chr2 1789113 2331664 - MYT1L protein_coding This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017]. 23040 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:0008270, GO:0001227, GO:0000981, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048666, GO:0048665, GO:0048663, GO:0030182, GO:0007399, GO:0006357, GO:0006357, GO:0000122, neuron development, neuron fate specification, neuron fate commitment, neuron differentiation, nervous system development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 1 0 0 0 0 0 ENSG00000186493 chr5 2752131 2755397 + C5orf38 protein_coding 153571 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 4 0 0 0 0 0 ENSG00000186496 chr18 35366697 35377337 - ZNF396 protein_coding 252884 GO:0005737, GO:0000785, GO:0000785, cytoplasm, chromatin, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 59 33 80 23 39 52 37 23 36 ENSG00000186501 chr1 27322145 27336400 + TMEM222 protein_coding 84065 GO:0016021, integral component of membrane, GO:0005515, protein binding, 282 250 332 138 213 168 150 169 105 ENSG00000186508 chr11 58144495 58145397 + OR9I2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186509 chr11 58023881 58181616 + OR9Q1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219956 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186510 chr1 16018875 16034050 + CLCNKA protein_coding This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1187 GO:0034707, GO:0005887, GO:0005886, chloride channel complex, integral component of plasma membrane, plasma membrane, GO:0046872, GO:0042802, GO:0005247, metal ion binding, identical protein binding, voltage-gated chloride channel activity, GO:1902476, GO:0034765, GO:0034220, GO:0007588, GO:0006821, chloride transmembrane transport, regulation of ion transmembrane transport, ion transmembrane transport, excretion, chloride transport, 0 0 0 0 0 0 0 0 0 ENSG00000186513 chr11 58189070 58194053 + OR9Q2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219957 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186517 chr1 161046946 161069970 - ARHGAP30 protein_coding 257106 GO:0043231, GO:0031410, GO:0005829, intracellular membrane-bounded organelle, cytoplasmic vesicle, cytosol, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0007264, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, small GTPase mediated signal transduction, 12232 12684 17172 4065 5883 6234 5188 5212 5032 ENSG00000186522 chr2 109542982 109614206 - SEPT10 protein_coding This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]. 151011 GO:0032153, GO:0031105, GO:0015630, GO:0005940, cell division site, septin complex, microtubule cytoskeleton, septin ring, GO:0060090, GO:0005525, GO:0005515, GO:0003924, molecular adaptor activity, GTP binding, protein binding, GTPase activity, GO:0061640, GO:0034613, cytoskeleton-dependent cytokinesis, cellular protein localization, 0 0 0 0 0 2 3 5 0 ENSG00000186523 chr8 12182096 12194133 - FAM86B1 protein_coding 85002 GO:0008168, methyltransferase activity, GO:0032259, methylation, 0 0 3 1 8 1 0 0 1 ENSG00000186526 chr19 15615218 15630638 + CYP4F8 protein_coding This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]. 11283 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0070330, GO:0020037, GO:0018685, GO:0005506, aromatase activity, heme binding, alkane 1-monooxygenase activity, iron ion binding, GO:0055114, GO:0006693, GO:0006690, oxidation-reduction process, prostaglandin metabolic process, icosanoid metabolic process, 0 1 1 0 0 0 0 0 0 ENSG00000186529 chr19 15640897 15662825 + CYP4F3 protein_coding This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2019]. 4051 GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0070330, GO:0050051, GO:0020037, GO:0008391, GO:0005506, GO:0004497, aromatase activity, leukotriene-B4 20-monooxygenase activity, heme binding, arachidonic acid monooxygenase activity, iron ion binding, monooxygenase activity, GO:0055114, GO:0042377, GO:0042376, GO:0042361, GO:0036101, GO:0019369, GO:0019369, GO:0006691, GO:0006690, oxidation-reduction process, vitamin K catabolic process, phylloquinone catabolic process, menaquinone catabolic process, leukotriene B4 catabolic process, arachidonic acid metabolic process, arachidonic acid metabolic process, leukotriene metabolic process, icosanoid metabolic process, 5190 6772 8667 4736 9334 9056 5539 6388 7709 ENSG00000186532 chr17 1779485 1830634 - SMYD4 protein_coding 114826 GO:0046872, GO:0008168, metal ion binding, methyltransferase activity, GO:0032259, methylation, 28 26 36 60 24 48 75 35 20 ENSG00000186543 chr1 21434318 21437558 + CROCCP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186562 chr8 7821966 7823889 - DEFB105A protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]. 245908 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000186564 chr1 47436017 47440691 + FOXD2 protein_coding This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]. 2306 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030154, GO:0009653, GO:0006357, positive regulation of transcription by RNA polymerase II, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 1 2 4 8 1 5 8 0 0 ENSG00000186566 chr17 44395284 44503430 - GPATCH8 protein_coding The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]. 23131 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0046872, GO:0005515, GO:0003723, metal ion binding, protein binding, RNA binding, GO:0008150, biological_process, 320 365 441 401 404 464 374 289 352 ENSG00000186567 chr19 44662278 44684359 + CEACAM19 protein_coding 56971 GO:0016021, integral component of membrane, GO:0005515, protein binding, 39 65 18 57 137 31 53 76 27 ENSG00000186572 chr8 7811720 7815716 - DEFB107A protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]. 245910 GO:0005576, extracellular region, GO:0008289, lipid binding, GO:0050830, GO:0050829, GO:0045087, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, 0 0 0 0 0 0 0 0 0 ENSG00000186575 chr22 29603556 29698598 + NF2 protein_coding This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]. 4771 GO:0048471, GO:0045177, GO:0044297, GO:0043005, GO:0032587, GO:0032154, GO:0031527, GO:0030864, GO:0030027, GO:0016020, GO:0005912, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005769, GO:0005737, GO:0005730, GO:0005634, perinuclear region of cytoplasm, apical part of cell, cell body, neuron projection, ruffle membrane, cleavage furrow, filopodium membrane, cortical actin cytoskeleton, lamellipodium, membrane, adherens junction, plasma membrane, plasma membrane, cytoskeleton, cytosol, early endosome, cytoplasm, nucleolus, nucleus, GO:0005515, GO:0003779, protein binding, actin binding, GO:2000177, GO:1900180, GO:0072091, GO:0070306, GO:0051726, GO:0051496, GO:0046426, GO:0045597, GO:0045216, GO:0043409, GO:0042981, GO:0042532, GO:0042475, GO:0035330, GO:0031647, GO:0030336, GO:0030036, GO:0022408, GO:0021766, GO:0014013, GO:0014010, GO:0008285, GO:0008285, GO:0007398, GO:0006469, GO:0001953, GO:0001707, regulation of neural precursor cell proliferation, regulation of protein localization to nucleus, regulation of stem cell proliferation, lens fiber cell differentiation, regulation of cell cycle, positive regulation of stress fiber assembly, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of cell differentiation, cell-cell junction organization, negative regulation of MAPK cascade, regulation of apoptotic process, negative regulation of tyrosine phosphorylation of STAT protein, odontogenesis of dentin-containing tooth, regulation of hippo signaling, regulation of protein stability, negative regulation of cell migration, actin cytoskeleton organization, negative regulation of cell-cell adhesion, hippocampus development, regulation of gliogenesis, Schwann cell proliferation, negative regulation of cell population proliferation, negative regulation of cell population proliferation, ectoderm development, negative regulation of protein kinase activity, negative regulation of cell-matrix adhesion, mesoderm formation, 75 66 90 59 76 90 81 57 61 ENSG00000186577 chr6 34246380 34249470 - SMIM29 protein_coding 221491 GO:0016021, integral component of membrane, 316 385 396 255 353 402 464 452 444 ENSG00000186579 chr8 7825172 7829053 + DEFB106A protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]. 245909 GO:1990742, GO:0019898, GO:0005634, microvesicle, extrinsic component of membrane, nucleus, GO:0031727, GO:0008201, GO:0005515, GO:0001530, CCR2 chemokine receptor binding, heparin binding, protein binding, lipopolysaccharide binding, GO:0061760, GO:0050830, GO:0050829, GO:0045087, antifungal innate immune response, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, 0 0 0 0 0 0 0 0 0 ENSG00000186583 chr8 144012414 144047085 + SPATC1 protein_coding 375686 GO:0005813, GO:0005813, GO:0005737, centrosome, centrosome, cytoplasm, 2 3 10 2 0 5 0 0 5 ENSG00000186591 chr7 129830732 129952949 - UBE2H protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]. 7328 GO:0005829, GO:0005634, cytosol, nucleus, GO:0061631, GO:0005524, GO:0005515, GO:0004842, ubiquitin conjugating enzyme activity, ATP binding, protein binding, ubiquitin-protein transferase activity, GO:0070979, GO:0070936, GO:0043161, GO:0016567, GO:0006511, GO:0000209, protein K11-linked ubiquitination, protein K48-linked ubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, protein ubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 1404 1530 2075 602 903 841 641 774 579 ENSG00000186594 chr17 1711493 1717174 - MIR22HG lincRNA 84981 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 1 0 0 0 ENSG00000186599 chr8 7487669 7489593 + DEFB105B protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]. 504180 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000186603 chr1 45326905 45328533 + HPDL protein_coding The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020]. 84842 GO:0046872, GO:0003868, metal ion binding, 4-hydroxyphenylpyruvate dioxygenase activity, GO:0055114, GO:0009072, oxidation-reduction process, aromatic amino acid family metabolic process, 0 1 1 2 4 0 6 3 1 ENSG00000186615 chr14 55499278 55580110 - KTN1-AS1 antisense 100129075 3 0 0 1 0 0 0 1 3 ENSG00000186625 chr6 149594873 149648972 - KATNA1 protein_coding Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011]. 11104 GO:0097431, GO:0030496, GO:0015630, GO:0005874, GO:0005819, GO:0005813, GO:0005737, GO:0005634, GO:0000922, mitotic spindle pole, midbody, microtubule cytoskeleton, microtubule, spindle, centrosome, cytoplasm, nucleus, spindle pole, GO:0046982, GO:0016887, GO:0016853, GO:0008568, GO:0008568, GO:0008017, GO:0005524, GO:0005515, protein heterodimerization activity, ATPase activity, isomerase activity, microtubule-severing ATPase activity, microtubule-severing ATPase activity, microtubule binding, ATP binding, protein binding, GO:0051301, GO:0051013, GO:0051013, GO:0031122, GO:0007049, cell division, microtubule severing, microtubule severing, cytoplasmic microtubule organization, cell cycle, 72 58 81 93 51 76 74 75 65 ENSG00000186628 chr15 82755362 82806070 - FSD2 protein_coding This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 123722 GO:0048471, GO:0016529, GO:0005634, perinuclear region of cytoplasm, sarcoplasmic reticulum, nucleus, GO:0005515, protein binding, 6 2 5 2 0 2 4 1 8 ENSG00000186635 chr11 72685069 72793599 - ARAP1 protein_coding The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. 116985 GO:0043231, GO:0032580, GO:0031410, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005802, GO:0005794, GO:0005654, intracellular membrane-bounded organelle, Golgi cisterna membrane, cytoplasmic vesicle, plasma membrane, plasma membrane, cytosol, cytosol, trans-Golgi network, Golgi apparatus, nucleoplasm, GO:0046872, GO:0031702, GO:0005547, GO:0005515, GO:0005096, metal ion binding, type 1 angiotensin receptor binding, phosphatidylinositol-3,4,5-trisphosphate binding, protein binding, GTPase activator activity, GO:0051497, GO:0051491, GO:0051270, GO:0051056, GO:0045742, GO:0043547, GO:0030037, GO:0008360, GO:0007165, GO:0001921, negative regulation of stress fiber assembly, positive regulation of filopodium assembly, regulation of cellular component movement, regulation of small GTPase mediated signal transduction, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of GTPase activity, actin filament reorganization involved in cell cycle, regulation of cell shape, signal transduction, positive regulation of receptor recycling, 15865 17260 17079 10525 14359 5731 11332 11221 5377 ENSG00000186638 chr9 34252381 34311371 - KIF24 protein_coding This gene encodes a member of the kinesin superfamily of microtubule-based motor proteins which are involved in the intracellular transport of membranous organelles, protein complexes, and mRNAs. They also play critical roles in mitosis, morphogenesis, and signal transduction. The encoded protein contains an N-terminal sterile alpha motif (SAM) domain and an ATP-binding kinesin motor domain. It binds centriolar coiled coil protein 110 and centrosomal protein 97 and localizes to the mother centriole to regulate ciliogenesis by controlling microtubule polymerization. [provided by RefSeq, Mar 2017]. 347240 GO:0032991, GO:0005874, GO:0005829, GO:0005814, protein-containing complex, microtubule, cytosol, centriole, GO:0042802, GO:0008017, GO:0005524, GO:0005515, GO:0003777, identical protein binding, microtubule binding, ATP binding, protein binding, microtubule motor activity, GO:0097711, GO:0060271, GO:0007019, GO:0007018, ciliary basal body-plasma membrane docking, cilium assembly, microtubule depolymerization, microtubule-based movement, 63 25 69 38 36 54 29 34 40 ENSG00000186642 chr11 72576141 72674591 - PDE2A protein_coding 5138 GO:0097060, GO:0048471, GO:0048471, GO:0042734, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005783, GO:0005759, GO:0005743, GO:0005743, GO:0005741, GO:0005741, GO:0005737, GO:0005634, GO:0005634, synaptic membrane, perinuclear region of cytoplasm, perinuclear region of cytoplasm, presynaptic membrane, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum, mitochondrial matrix, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrial outer membrane, cytoplasm, nucleus, nucleus, GO:0047555, GO:0047555, GO:0042803, GO:0042803, GO:0042301, GO:0030911, GO:0030553, GO:0030553, GO:0030552, GO:0008270, GO:0005515, GO:0004118, GO:0004118, GO:0004115, GO:0004115, GO:0004114, GO:0000287, 3',5'-cyclic-GMP phosphodiesterase activity, 3',5'-cyclic-GMP phosphodiesterase activity, protein homodimerization activity, protein homodimerization activity, phosphate ion binding, TPR domain binding, cGMP binding, cGMP binding, cAMP binding, zinc ion binding, protein binding, cGMP-stimulated cyclic-nucleotide phosphodiesterase activity, cGMP-stimulated cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, magnesium ion binding, GO:1904613, GO:0071560, GO:0071321, GO:0071320, GO:0071260, GO:0061028, GO:0050729, GO:0046069, GO:0046069, GO:0043951, GO:0043951, GO:0043949, GO:0043117, GO:0043116, GO:0036006, GO:0035904, GO:0019934, GO:0019934, GO:0019933, GO:0019933, GO:0010821, GO:0010754, GO:0010752, GO:0010628, GO:0007193, GO:0007186, GO:0007165, GO:0003281, GO:0003170, GO:0000122, cellular response to 2,3,7,8-tetrachlorodibenzodioxine, cellular response to transforming growth factor beta stimulus, cellular response to cGMP, cellular response to cAMP, cellular response to mechanical stimulus, establishment of endothelial barrier, positive regulation of inflammatory response, cGMP catabolic process, cGMP catabolic process, negative regulation of cAMP-mediated signaling, negative regulation of cAMP-mediated signaling, regulation of cAMP-mediated signaling, positive regulation of vascular permeability, negative regulation of vascular permeability, cellular response to macrophage colony-stimulating factor stimulus, aorta development, cGMP-mediated signaling, cGMP-mediated signaling, cAMP-mediated signaling, cAMP-mediated signaling, regulation of mitochondrion organization, negative regulation of cGMP-mediated signaling, regulation of cGMP-mediated signaling, positive regulation of gene expression, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, ventricular septum development, heart valve development, negative regulation of transcription by RNA polymerase II, 25 35 25 60 78 78 53 66 26 ENSG00000186645 chr7 77024691 77030572 - SPDYE17 unprocessed_pseudogene 102723849 1 0 0 0 0 0 0 2 2 ENSG00000186648 chr14 24052000 24069728 + CARMIL3 protein_coding 90668 GO:0005886, GO:0005737, plasma membrane, cytoplasm, 0 3 9 0 2 18 2 4 15 ENSG00000186652 chr11 57386794 57390657 - PRG2 protein_coding The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]. 5553 GO:1904813, GO:0070062, GO:0062023, GO:0030133, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, collagen-containing extracellular matrix, transport vesicle, extracellular region, GO:0030246, GO:0030021, GO:0030021, GO:0008201, GO:0005515, carbohydrate binding, extracellular matrix structural constituent conferring compression resistance, extracellular matrix structural constituent conferring compression resistance, heparin binding, protein binding, GO:0043312, GO:0042742, neutrophil degranulation, defense response to bacterium, 0 0 0 0 0 0 1 0 0 ENSG00000186654 chr22 44668547 44737681 + PRR5 protein_coding This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]. 55615 GO:0031932, GO:0031932, GO:0005829, TORC2 complex, TORC2 complex, cytosol, GO:0005515, protein binding, GO:0038203, GO:0032148, GO:0014068, GO:0007049, TORC2 signaling, activation of protein kinase B activity, positive regulation of phosphatidylinositol 3-kinase signaling, cell cycle, 12 9 41 34 11 80 41 17 38 ENSG00000186660 chr11 58579111 58621042 + ZFP91 protein_coding The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2-type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. This protein functions as a regulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta receptor signaling. Alternative splicing results in multiple transcript variants. A read-through transcript variant composed of ZFP91 and the downstream CNTF gene sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. A ZFP91-related pseudogene has also been identified on chromosome 2. [provided by RefSeq, Oct 2010]. 80829 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0046872, GO:0004842, metal ion binding, ubiquitin-protein transferase activity, GO:0070534, GO:0007250, GO:0006357, protein K63-linked ubiquitination, activation of NF-kappaB-inducing kinase activity, regulation of transcription by RNA polymerase II, 763 721 804 362 565 535 392 411 496 ENSG00000186665 chr17 67991101 67996431 - C17orf58 protein_coding 284018 GO:0062023, collagen-containing extracellular matrix, 1 3 2 1 4 10 0 4 0 ENSG00000186666 chr12 49836039 49843129 - BCDIN3D protein_coding This gene encodes an RNA methyltransferase which belongs to the rossmann fold methyltransferase family, and serves as a 5'-methylphosphate capping enzyme that is specific for cytoplasmic histidyl tRNA. The encoded protein contains an S-adenosylmethionine binding domain and uses the methyl group donor, S-adenosylmethionine. This gene is overexpressed in breast cancer cells, and is related to the tumorigenic phenotype and poor prognosis of breast cancer. The encoded protein is thought to promote the cellular invasion of breast cancer cells, by downregulating the expression of tumor suppressor miRNAs through the dimethylation of the 5-monophosphate of the corresponding precursor miRNAs. [provided by RefSeq, Apr 2017]. 144233 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0008175, GO:0008173, GO:0008173, GO:0008171, GO:0008171, GO:0008171, GO:0005515, tRNA methyltransferase activity, RNA methyltransferase activity, RNA methyltransferase activity, O-methyltransferase activity, O-methyltransferase activity, O-methyltransferase activity, protein binding, GO:2000632, GO:2000632, GO:0061715, GO:0030488, GO:0010586, GO:0010586, GO:0010586, GO:0001510, negative regulation of pre-miRNA processing, negative regulation of pre-miRNA processing, miRNA 2'-O-methylation, tRNA methylation, miRNA metabolic process, miRNA metabolic process, miRNA metabolic process, RNA methylation, 12 8 7 13 2 13 8 10 7 ENSG00000186675 chrX 75782988 75785236 - MAGEE2 protein_coding This gene encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [provided by RefSeq, Sep 2011]. 139599 0 0 0 0 0 0 0 0 0 ENSG00000186676 chr7 125033453 125035301 + EEF1GP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186678 chrX 55172717 55176026 + AL590240.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186684 chr2 127184120 127220078 - CYP27C1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]. 339761 GO:0043231, GO:0016020, GO:0005739, intracellular membrane-bounded organelle, membrane, mitochondrion, GO:1904768, GO:1904768, GO:0061899, GO:0061898, GO:0061898, GO:0061897, GO:0061897, GO:0061896, GO:0061896, GO:0020037, GO:0005506, GO:0005503, GO:0005502, GO:0004497, GO:0001972, GO:0001972, all-trans-retinol binding, all-trans-retinol binding, 11-cis-retinal 3,4-desaturase activity, all-trans retinoic acid 3,4-desaturase activity, all-trans retinoic acid 3,4-desaturase activity, all-trans retinal 3,4-desaturase activity, all-trans retinal 3,4-desaturase activity, all-trans retinol 3,4-desaturase activity, all-trans retinol 3,4-desaturase activity, heme binding, iron ion binding, all-trans retinal binding, 11-cis retinal binding, monooxygenase activity, retinoic acid binding, retinoic acid binding, GO:0055114, GO:0042574, GO:0042573, GO:0042572, oxidation-reduction process, retinal metabolic process, retinoic acid metabolic process, retinol metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000186687 chr5 131170810 131205426 + LYRM7 protein_coding Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. 90624 GO:0031966, GO:0005759, mitochondrial membrane, mitochondrial matrix, GO:0005515, protein binding, GO:0045333, GO:0034551, cellular respiration, mitochondrial respiratory chain complex III assembly, 90 73 109 107 83 104 73 56 90 ENSG00000186704 chr7 76978617 77004308 + DTX2P1 transcribed_unprocessed_pseudogene 0 3 3 1 1 1 1 2 3 ENSG00000186710 chr12 113149858 113159276 + CFAP73 protein_coding 387885 GO:0097545, GO:0031514, axonemal outer doublet, motile cilium, GO:0070840, dynein complex binding, GO:2000574, GO:0036159, GO:0003341, regulation of microtubule motor activity, inner dynein arm assembly, cilium movement, 13 10 25 19 5 33 22 7 26 ENSG00000186714 chr11 32602246 32794658 - CCDC73 protein_coding 493860 27 17 13 43 30 36 9 22 17 ENSG00000186715 chr1 16754910 16770237 - MST1L transcribed_unprocessed_pseudogene 11223 GO:0005576, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0033601, GO:0010758, GO:0006508, positive regulation of mammary gland epithelial cell proliferation, regulation of macrophage chemotaxis, proteolysis, 0 2 0 0 4 0 3 0 3 ENSG00000186716 chr22 23179704 23318037 + BCR protein_coding A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]. 613 GO:0098978, GO:0098685, GO:0070062, GO:0043197, GO:0032991, GO:0030424, GO:0016020, GO:0016020, GO:0014069, GO:0005886, GO:0005829, glutamatergic synapse, Schaffer collateral - CA1 synapse, extracellular exosome, dendritic spine, protein-containing complex, axon, membrane, membrane, postsynaptic density, plasma membrane, cytosol, GO:0106311, GO:0106310, GO:0016301, GO:0005524, GO:0005515, GO:0005096, GO:0005085, GO:0005085, GO:0004674, protein threonine kinase activity, protein serine kinase activity, kinase activity, ATP binding, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, protein serine/threonine kinase activity, GO:2000378, GO:0090630, GO:0090630, GO:0071222, GO:0065002, GO:0060313, GO:0060268, GO:0060216, GO:0051726, GO:0051171, GO:0051056, GO:0050885, GO:0050804, GO:0050766, GO:0050728, GO:0048872, GO:0048041, GO:0048008, GO:0046777, GO:0043314, GO:0043114, GO:0042472, GO:0035023, GO:0030216, GO:0030036, GO:0007420, GO:0007264, GO:0007165, GO:0006468, GO:0003014, GO:0002692, negative regulation of reactive oxygen species metabolic process, activation of GTPase activity, activation of GTPase activity, cellular response to lipopolysaccharide, intracellular protein transmembrane transport, negative regulation of blood vessel remodeling, negative regulation of respiratory burst, definitive hemopoiesis, regulation of cell cycle, regulation of nitrogen compound metabolic process, regulation of small GTPase mediated signal transduction, neuromuscular process controlling balance, modulation of chemical synaptic transmission, positive regulation of phagocytosis, negative regulation of inflammatory response, homeostasis of number of cells, focal adhesion assembly, platelet-derived growth factor receptor signaling pathway, protein autophosphorylation, negative regulation of neutrophil degranulation, regulation of vascular permeability, inner ear morphogenesis, regulation of Rho protein signal transduction, keratinocyte differentiation, actin cytoskeleton organization, brain development, small GTPase mediated signal transduction, signal transduction, protein phosphorylation, renal system process, negative regulation of cellular extravasation, 376 412 538 259 281 260 301 281 285 ENSG00000186723 chr19 15804549 15815664 - OR10H1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26539 GO:0045202, GO:0030425, GO:0005887, GO:0005886, synapse, dendrite, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0004993, GO:0004984, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, olfactory receptor activity, GO:0098664, GO:0050911, GO:0007268, GO:0007187, G protein-coupled serotonin receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell, chemical synaptic transmission, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, 0 0 0 0 0 0 2 0 0 ENSG00000186732 chr22 43411196 43507848 + MPPED1 protein_coding 758 GO:0005575, cellular_component, GO:0016787, GO:0003674, hydrolase activity, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000186743 chr6 116038756 116039495 + TPI1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000186765 chr17 81528396 81537130 + FSCN2 protein_coding This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 25794 GO:0032420, GO:0015629, GO:0015629, GO:0005737, stereocilium, actin cytoskeleton, actin cytoskeleton, cytoplasm, GO:0051015, GO:0051015, GO:0030674, GO:0005515, GO:0003779, actin filament binding, actin filament binding, protein-macromolecule adaptor activity, protein binding, actin binding, GO:0051017, GO:0042462, GO:0030036, GO:0016477, GO:0009653, GO:0007601, GO:0007163, actin filament bundle assembly, eye photoreceptor cell development, actin cytoskeleton organization, cell migration, anatomical structure morphogenesis, visual perception, establishment or maintenance of cell polarity, 0 0 2 0 0 0 3 0 0 ENSG00000186766 chr10 127737235 127741186 + FOXI2 protein_coding 399823 GO:0000785, GO:0000785, chromatin, chromatin, GO:0043565, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000186767 chrX 63347228 63351344 - SPIN4 protein_coding 139886 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0035064, GO:0035064, GO:0005515, methylated histone binding, methylated histone binding, protein binding, GO:0007276, GO:0006355, gamete generation, regulation of transcription, DNA-templated, 10 7 9 9 0 14 13 6 16 ENSG00000186777 chr4 270675 305321 - ZNF732 protein_coding This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and sixteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]. 654254 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000186787 chrX 57118551 57121546 - SPIN2B protein_coding 474343 GO:0005829, GO:0005829, GO:0005654, GO:0005654, cytosol, cytosol, nucleoplasm, nucleoplasm, GO:0035064, GO:0035064, GO:0005515, methylated histone binding, methylated histone binding, protein binding, GO:0051726, GO:0007276, GO:0007049, GO:0006915, GO:0006355, regulation of cell cycle, gamete generation, cell cycle, apoptotic process, regulation of transcription, DNA-templated, 2 2 1 5 0 2 0 1 9 ENSG00000186788 chr9 81943586 81950038 + SPATA31D3 protein_coding 389762 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000186790 chr1 47416072 47418052 + FOXE3 protein_coding This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]. 2301 GO:0005667, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleus, chromatin, chromatin, GO:0043565, GO:0003700, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001111, GO:2001111, GO:1902747, GO:0071157, GO:0061303, GO:0061073, GO:0061072, GO:0048468, GO:0043066, GO:0042789, GO:0030154, GO:0009653, GO:0006366, GO:0006357, GO:0002930, GO:0002088, GO:0002088, GO:0001654, positive regulation of lens epithelial cell proliferation, positive regulation of lens epithelial cell proliferation, negative regulation of lens fiber cell differentiation, negative regulation of cell cycle arrest, cornea development in camera-type eye, ciliary body morphogenesis, iris morphogenesis, cell development, negative regulation of apoptotic process, mRNA transcription by RNA polymerase II, cell differentiation, anatomical structure morphogenesis, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, trabecular meshwork development, lens development in camera-type eye, lens development in camera-type eye, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000186792 chr3 50292831 50299468 - HYAL3 protein_coding This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]. 8372 GO:0097225, GO:0031410, GO:0031410, GO:0031410, GO:0005886, GO:0005783, GO:0005769, GO:0005764, GO:0005576, GO:0002080, GO:0001669, GO:0001669, sperm midpiece, cytoplasmic vesicle, cytoplasmic vesicle, cytoplasmic vesicle, plasma membrane, endoplasmic reticulum, early endosome, lysosome, extracellular region, acrosomal membrane, acrosomal vesicle, acrosomal vesicle, GO:0033906, GO:0005515, GO:0004415, GO:0001618, hyaluronoglucuronidase activity, protein binding, hyalurononglucosaminidase activity, virus receptor activity, GO:2000368, GO:2000355, GO:0071493, GO:0071356, GO:0071347, GO:0051216, GO:0046718, GO:0046677, GO:0030214, GO:0030214, GO:0009615, GO:0007341, GO:0006954, GO:0005975, GO:0001552, positive regulation of acrosomal vesicle exocytosis, negative regulation of ovarian follicle development, cellular response to UV-B, cellular response to tumor necrosis factor, cellular response to interleukin-1, cartilage development, viral entry into host cell, response to antibiotic, hyaluronan catabolic process, hyaluronan catabolic process, response to virus, penetration of zona pellucida, inflammatory response, carbohydrate metabolic process, ovarian follicle atresia, 6 8 6 6 2 19 9 3 4 ENSG00000186795 chr10 117197489 117210299 + KCNK18 protein_coding Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]. 338567 GO:0005887, GO:0005887, GO:0005886, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0022841, GO:0015271, GO:0015269, potassium ion leak channel activity, outward rectifier potassium channel activity, calcium-activated potassium channel activity, GO:0097623, GO:0071805, GO:0071467, GO:0030322, GO:0006813, potassium ion export across plasma membrane, potassium ion transmembrane transport, cellular response to pH, stabilization of membrane potential, potassium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000186803 chr9 21206181 21207143 - IFNA10 protein_coding This gene encodes a protein that belongs to the type I interferon family of proteins, and is located in a cluster of alpha interferon genes on chromosome 9. Interferons are small regulatory molecules that function in cell signaling in response to viruses and other pathogens or tumor cells. This gene is intronless and the encoded protein is secreted. [provided by RefSeq, Aug 2013]. 3446 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005132, GO:0005125, type I interferon receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000186806 chr19 51331536 51342124 - VSIG10L protein_coding 147645 GO:0016021, GO:0005654, integral component of membrane, nucleoplasm, 3 8 5 9 7 15 3 4 1 ENSG00000186810 chrX 71615916 71618517 - CXCR3 protein_coding This gene encodes a G protein-coupled receptor with selectivity for three chemokines, termed CXCL9/Mig (monokine induced by interferon-g), CXCL10/IP10 (interferon-g-inducible 10 kDa protein) and CXCL11/I-TAC (interferon-inducible T cell a-chemoattractant). Binding of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the isoforms (CXCR3-B) shows high affinity binding to chemokine, CXCL4/PF4 (PMID:12782716). [provided by RefSeq, Jun 2011]. 2833 GO:0009897, GO:0005887, GO:0005886, GO:0005737, external side of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0042802, GO:0019957, GO:0019956, GO:0016494, GO:0016493, GO:0005515, GO:0004950, identical protein binding, C-C chemokine binding, chemokine binding, C-X-C chemokine receptor activity, C-C chemokine receptor activity, protein binding, chemokine receptor activity, GO:0070098, GO:0060326, GO:0030155, GO:0019722, GO:0010818, GO:0007204, GO:0007186, GO:0007166, GO:0007155, GO:0006955, GO:0006954, GO:0006915, GO:0002685, GO:0001525, chemokine-mediated signaling pathway, cell chemotaxis, regulation of cell adhesion, calcium-mediated signaling, T cell chemotaxis, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cell adhesion, immune response, inflammatory response, apoptotic process, regulation of leukocyte migration, angiogenesis, 33 27 94 28 3 26 35 13 32 ENSG00000186812 chr18 35241030 35267133 + ZNF397 protein_coding This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]. 84307 GO:0015630, GO:0005886, GO:0005829, GO:0005730, GO:0000785, microtubule cytoskeleton, plasma membrane, cytosol, nucleolus, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 872 829 1004 634 766 923 702 553 710 ENSG00000186814 chr18 35251058 35290245 - ZSCAN30 protein_coding 100101467 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 125 98 121 145 148 140 116 89 115 ENSG00000186815 chr12 113221050 113298585 + TPCN1 protein_coding Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]. 53373 GO:0016021, GO:0010008, GO:0010008, GO:0005768, GO:0005765, GO:0005765, GO:0005765, GO:0005764, integral component of membrane, endosome membrane, endosome membrane, endosome, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, GO:0080025, GO:0072345, GO:0072345, GO:0042803, GO:0042802, GO:0015280, GO:0005515, GO:0005248, GO:0005245, phosphatidylinositol-3,5-bisphosphate binding, NAADP-sensitive calcium-release channel activity, NAADP-sensitive calcium-release channel activity, protein homodimerization activity, identical protein binding, ligand-gated sodium channel activity, protein binding, voltage-gated sodium channel activity, voltage-gated calcium channel activity, GO:0051209, GO:0035725, GO:0034765, GO:0034220, GO:0010508, release of sequestered calcium ion into cytosol, sodium ion transmembrane transport, regulation of ion transmembrane transport, ion transmembrane transport, positive regulation of autophagy, 58 32 83 122 64 178 81 42 73 ENSG00000186818 chr19 54643889 54670359 + LILRB4 protein_coding This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 11006 GO:0098752, GO:0070062, GO:0009986, GO:0005886, integral component of the cytoplasmic side of the plasma membrane, extracellular exosome, cell surface, plasma membrane, GO:0030547, GO:0030293, GO:0030293, GO:0019903, GO:0005515, receptor inhibitor activity, transmembrane receptor protein tyrosine kinase inhibitor activity, transmembrane receptor protein tyrosine kinase inhibitor activity, protein phosphatase binding, protein binding, GO:2000524, GO:2000272, GO:1902894, GO:1900181, GO:1900016, GO:0150102, GO:0140105, GO:0071659, GO:0061099, GO:0061099, GO:0050860, GO:0050860, GO:0046007, GO:0045671, GO:0045591, GO:0045584, GO:0043409, GO:0043378, GO:0043124, GO:0042130, GO:0032715, GO:0032714, GO:0032703, GO:0032693, GO:0032691, GO:0032689, GO:0032682, GO:0031623, GO:0002774, GO:0002725, GO:0002669, GO:0002507, GO:0002250, negative regulation of T cell costimulation, negative regulation of signaling receptor activity, negative regulation of pri-miRNA transcription by RNA polymerase II, negative regulation of protein localization to nucleus, negative regulation of cytokine production involved in inflammatory response, negative regulation of monocyte activation, interleukin-10-mediated signaling pathway, negative regulation of IP-10 production, negative regulation of protein tyrosine kinase activity, negative regulation of protein tyrosine kinase activity, negative regulation of T cell receptor signaling pathway, negative regulation of T cell receptor signaling pathway, negative regulation of activated T cell proliferation, negative regulation of osteoclast differentiation, positive regulation of regulatory T cell differentiation, negative regulation of cytotoxic T cell differentiation, negative regulation of MAPK cascade, positive regulation of CD8-positive, alpha-beta T cell differentiation, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of T cell proliferation, negative regulation of interleukin-6 production, negative regulation of interleukin-5 production, negative regulation of interleukin-2 production, negative regulation of interleukin-10 production, negative regulation of interleukin-1 beta production, negative regulation of interferon-gamma production, negative regulation of chemokine production, receptor internalization, Fc receptor mediated inhibitory signaling pathway, negative regulation of T cell cytokine production, positive regulation of T cell anergy, tolerance induction, adaptive immune response, 0 0 0 0 0 1 1 0 0 ENSG00000186825 chr2 131794961 131801661 - C2orf27B lincRNA 408029 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000186827 chr1 1211326 1214138 - TNFRSF4 protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]. 7293 GO:0009986, GO:0009897, GO:0005887, GO:0005886, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005031, GO:0001618, protein binding, tumor necrosis factor-activated receptor activity, virus receptor activity, GO:0046718, GO:0045892, GO:0043433, GO:0042098, GO:0033209, GO:0030890, GO:0006955, GO:0006954, GO:0002639, GO:0001818, viral entry into host cell, negative regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, T cell proliferation, tumor necrosis factor-mediated signaling pathway, positive regulation of B cell proliferation, immune response, inflammatory response, positive regulation of immunoglobulin production, negative regulation of cytokine production, 25 11 38 58 18 48 82 14 18 ENSG00000186831 chr17 18426861 18431848 + KRT17P2 transcribed_unprocessed_pseudogene 0 0 1 3 0 0 3 2 5 ENSG00000186832 chr17 41609778 41615899 - KRT16 protein_coding The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]. 3868 GO:0070062, GO:0005882, GO:0005856, GO:0005829, GO:0005634, extracellular exosome, intermediate filament, cytoskeleton, cytosol, nucleus, GO:0005515, GO:0005200, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0061436, GO:0051546, GO:0045087, GO:0042633, GO:0031424, GO:0031424, GO:0030336, GO:0030216, GO:0007568, GO:0007010, GO:0006954, GO:0002009, cornification, establishment of skin barrier, keratinocyte migration, innate immune response, hair cycle, keratinization, keratinization, negative regulation of cell migration, keratinocyte differentiation, aging, cytoskeleton organization, inflammatory response, morphogenesis of an epithelium, 0 0 0 0 0 0 0 0 0 ENSG00000186834 chr17 45148502 45152101 + HEXIM1 protein_coding Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008]. 10614 GO:0120259, GO:0043231, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, 7SK snRNP, intracellular membrane-bounded organelle, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0106140, GO:0097322, GO:0097322, GO:0042802, GO:0017069, GO:0005515, GO:0004861, GO:0004861, GO:0004860, P-TEFb complex binding, 7SK snRNA binding, 7SK snRNA binding, identical protein binding, snRNA binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, cyclin-dependent protein serine/threonine kinase inhibitor activity, protein kinase inhibitor activity, GO:1901798, GO:0045892, GO:0045736, GO:0045736, GO:0045087, GO:0034244, GO:0032897, GO:0007507, GO:0002218, GO:0000122, GO:0000122, GO:0000122, positive regulation of signal transduction by p53 class mediator, negative regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, innate immune response, negative regulation of transcription elongation from RNA polymerase II promoter, negative regulation of viral transcription, heart development, activation of innate immune response, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1224 1434 1071 2385 3475 2873 1668 1734 1717 ENSG00000186838 chr19 39515113 39520686 + SELENOV protein_coding This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is specifically expressed in the testis. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2017]. 348303 GO:0005829, cytosol, GO:0005515, protein binding, GO:0010269, response to selenium ion, 0 0 0 0 0 0 0 0 0 ENSG00000186842 chr21 32572238 32575881 - LINC00846 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000186844 chr1 152827473 152827894 + LCE1A protein_coding LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009]. 353131 GO:0005829, cytosol, GO:0005515, protein binding, GO:0070268, cornification, 0 0 0 0 0 0 0 0 0 ENSG00000186847 chr17 41582279 41586921 - KRT14 protein_coding This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]. 3861 GO:0070062, GO:0045095, GO:0005882, GO:0005829, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, keratin filament, intermediate filament, cytosol, cytoplasm, nucleus, nucleus, GO:1990254, GO:0005515, GO:0005200, keratin filament binding, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0045110, GO:0042633, GO:0031581, GO:0031424, GO:0008544, GO:0007568, cornification, intermediate filament bundle assembly, hair cycle, hemidesmosome assembly, keratinization, epidermis development, aging, 0 0 0 0 0 0 0 0 0 ENSG00000186854 chr2 84821650 84907008 - TRABD2A protein_coding 129293 GO:0031301, GO:0031301, GO:0016020, GO:0005887, GO:0005887, integral component of organelle membrane, integral component of organelle membrane, membrane, integral component of plasma membrane, integral component of plasma membrane, GO:0046872, GO:0017147, GO:0017147, GO:0004222, GO:0004222, GO:0004222, GO:0004175, metal ion binding, Wnt-protein binding, Wnt-protein binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:1904808, GO:0060322, GO:0031334, GO:0030178, GO:0030178, GO:0016055, GO:0006508, positive regulation of protein oxidation, head development, positive regulation of protein-containing complex assembly, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, Wnt signaling pathway, proteolysis, 46 37 116 184 52 181 115 37 131 ENSG00000186860 chr17 41314917 41315695 - KRTAP17-1 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 83902 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186862 chr10 101007683 101032295 - PDZD7 protein_coding This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. 79955 GO:1990696, GO:0032426, GO:0032420, GO:0032391, GO:0005929, GO:0005886, GO:0005654, GO:0005634, GO:0005615, GO:0002142, GO:0002142, GO:0002141, GO:0001917, USH2 complex, stereocilium tip, stereocilium, photoreceptor connecting cilium, cilium, plasma membrane, nucleoplasm, nucleus, extracellular space, stereocilia ankle link complex, stereocilia ankle link complex, stereocilia ankle link, photoreceptor inner segment, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0060117, GO:0060088, GO:0060088, GO:0050910, GO:0045184, GO:0007605, auditory receptor cell development, auditory receptor cell stereocilium organization, auditory receptor cell stereocilium organization, detection of mechanical stimulus involved in sensory perception of sound, establishment of protein localization, sensory perception of sound, 5 3 3 2 0 10 13 1 4 ENSG00000186866 chr21 45263928 45287898 - POFUT2 protein_coding Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]. 23275 GO:0005794, GO:0005789, Golgi apparatus, endoplasmic reticulum membrane, GO:0046922, GO:0046922, GO:0046922, peptide-O-fucosyltransferase activity, peptide-O-fucosyltransferase activity, peptide-O-fucosyltransferase activity, GO:1903334, GO:0051046, GO:0036066, GO:0036066, GO:0010717, GO:0010468, GO:0006004, GO:0001707, positive regulation of protein folding, regulation of secretion, protein O-linked fucosylation, protein O-linked fucosylation, regulation of epithelial to mesenchymal transition, regulation of gene expression, fucose metabolic process, mesoderm formation, 1607 1790 2157 1374 1702 1713 1315 1052 1130 ENSG00000186867 chr4 121329312 121381059 - QRFPR protein_coding 84109 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0004983, GO:0004930, GO:0004930, protein binding, neuropeptide Y receptor activity, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0007218, GO:0007186, GO:0007186, GO:0007186, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186868 chr17 45894382 46028334 + MAPT protein_coding This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]. 4137 GO:1904115, GO:0097418, GO:0097418, GO:0097386, GO:0045298, GO:0045121, GO:0044304, GO:0044297, GO:0044297, GO:0043197, GO:0043025, GO:0043005, GO:0036477, GO:0036477, GO:0036464, GO:0034399, GO:0030673, GO:0030426, GO:0030425, GO:0030424, GO:0030424, GO:0030424, GO:0016607, GO:0016020, GO:0015630, GO:0015630, GO:0005886, GO:0005886, GO:0005874, GO:0005829, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005576, axon cytoplasm, neurofibrillary tangle, neurofibrillary tangle, glial cell projection, tubulin complex, membrane raft, main axon, cell body, cell body, dendritic spine, neuronal cell body, neuron projection, somatodendritic compartment, somatodendritic compartment, cytoplasmic ribonucleoprotein granule, nuclear periphery, axolemma, growth cone, dendrite, axon, axon, axon, nuclear speck, membrane, microtubule cytoskeleton, microtubule cytoskeleton, plasma membrane, plasma membrane, microtubule, cytosol, cytosol, cytosol, mitochondrion, cytoplasm, cytoplasm, cytoplasm, nucleus, nucleus, extracellular region, GO:1902936, GO:0099609, GO:0099077, GO:0071813, GO:0051879, GO:0051721, GO:0051087, GO:0043565, GO:0042802, GO:0042802, GO:0042802, GO:0035091, GO:0034452, GO:0034185, GO:0030674, GO:0019901, GO:0019901, GO:0019899, GO:0019899, GO:0017124, GO:0008017, GO:0008017, GO:0008017, GO:0008017, GO:0008017, GO:0005515, GO:0003779, GO:0003723, GO:0003697, GO:0003690, GO:0003680, GO:0003677, GO:0003677, phosphatidylinositol bisphosphate binding, microtubule lateral binding, histone-dependent DNA binding, lipoprotein particle binding, Hsp90 protein binding, protein phosphatase 2A binding, chaperone binding, sequence-specific DNA binding, identical protein binding, identical protein binding, identical protein binding, phosphatidylinositol binding, dynactin binding, apolipoprotein binding, protein-macromolecule adaptor activity, protein kinase binding, protein kinase binding, enzyme binding, enzyme binding, SH3 domain binding, microtubule binding, microtubule binding, microtubule binding, microtubule binding, microtubule binding, protein binding, actin binding, RNA binding, single-stranded DNA binding, double-stranded DNA binding, minor groove of adenine-thymine-rich DNA binding, DNA binding, DNA binding, GO:2001020, GO:1990416, GO:1990090, GO:1990000, GO:1905689, GO:1904428, GO:1904428, GO:1903829, GO:1903748, GO:1902988, GO:1902474, GO:1901216, GO:1900452, GO:1900034, GO:0098930, GO:0098930, GO:0097435, GO:0097435, GO:0090258, GO:0090140, GO:0072386, GO:0070507, GO:0070507, GO:0061564, GO:0051258, GO:0050848, GO:0050808, GO:0048699, GO:0048312, GO:0048167, GO:0048143, GO:0046785, GO:0045773, GO:0034614, GO:0034605, GO:0034063, GO:0033673, GO:0033044, GO:0032930, GO:0031175, GO:0031175, GO:0031122, GO:0031116, GO:0031113, GO:0031113, GO:0031110, GO:0021954, GO:0019896, GO:0016072, GO:0010917, GO:0010629, GO:0010506, GO:0010288, GO:0007613, GO:0007267, GO:0006919, GO:0006475, GO:0001774, GO:0000226, GO:0000226, GO:0000226, regulation of response to DNA damage stimulus, cellular response to brain-derived neurotrophic factor stimulus, cellular response to nerve growth factor stimulus, amyloid fibril formation, positive regulation of diacylglycerol kinase activity, negative regulation of tubulin deacetylation, negative regulation of tubulin deacetylation, positive regulation of cellular protein localization, negative regulation of establishment of protein localization to mitochondrion, neurofibrillary tangle assembly, positive regulation of protein localization to synapse, positive regulation of neuron death, regulation of long-term synaptic depression, regulation of cellular response to heat, axonal transport, axonal transport, supramolecular fiber organization, supramolecular fiber organization, negative regulation of mitochondrial fission, regulation of mitochondrial fission, plus-end-directed organelle transport along microtubule, regulation of microtubule cytoskeleton organization, regulation of microtubule cytoskeleton organization, axon development, protein polymerization, regulation of calcium-mediated signaling, synapse organization, generation of neurons, intracellular distribution of mitochondria, regulation of synaptic plasticity, astrocyte activation, microtubule polymerization, positive regulation of axon extension, cellular response to reactive oxygen species, cellular response to heat, stress granule assembly, negative regulation of kinase activity, regulation of chromosome organization, positive regulation of superoxide anion generation, neuron projection development, neuron projection development, cytoplasmic microtubule organization, positive regulation of microtubule polymerization, regulation of microtubule polymerization, regulation of microtubule polymerization, regulation of microtubule polymerization or depolymerization, central nervous system neuron development, axonal transport of mitochondrion, rRNA metabolic process, negative regulation of mitochondrial membrane potential, negative regulation of gene expression, regulation of autophagy, response to lead ion, memory, cell-cell signaling, activation of cysteine-type endopeptidase activity involved in apoptotic process, internal protein amino acid acetylation, microglial cell activation, microtubule cytoskeleton organization, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000186871 chrX 72204657 72239047 - ERCC6L protein_coding This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]. 54821 GO:0016020, GO:0005829, GO:0000777, membrane, cytosol, condensed chromosome kinetochore, GO:0015616, GO:0015616, GO:0005524, GO:0005515, GO:0003678, GO:0003677, DNA translocase activity, DNA translocase activity, ATP binding, protein binding, DNA helicase activity, DNA binding, GO:0051301, GO:0032508, GO:0007049, cell division, DNA duplex unwinding, cell cycle, 0 0 1 7 5 1 1 0 0 ENSG00000186881 chr9 104504263 104505222 + OR13F1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 138805 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186886 chr11 55723776 55729621 + OR5D3P protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000186889 chr2 62500221 62511894 - TMEM17 protein_coding 200728 GO:0060170, GO:0036038, GO:0035869, GO:0035869, GO:0016021, ciliary membrane, MKS complex, ciliary transition zone, ciliary transition zone, integral component of membrane, GO:0005515, protein binding, GO:1905515, GO:1905515, GO:0060271, GO:0007224, non-motile cilium assembly, non-motile cilium assembly, cilium assembly, smoothened signaling pathway, 2 0 0 0 0 0 0 0 0 ENSG00000186891 chr1 1203508 1206691 - TNFRSF18 protein_coding This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011]. 8784 GO:0009897, GO:0005887, GO:0005886, GO:0005576, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0005515, GO:0005031, protein binding, tumor necrosis factor-activated receptor activity, GO:0045785, GO:0045785, GO:0045589, GO:0043066, GO:0042531, GO:0033209, GO:0007165, GO:0006915, GO:0002687, positive regulation of cell adhesion, positive regulation of cell adhesion, regulation of regulatory T cell differentiation, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, tumor necrosis factor-mediated signaling pathway, signal transduction, apoptotic process, positive regulation of leukocyte migration, 7 9 19 18 8 11 29 6 8 ENSG00000186895 chr11 69809969 69819024 - FGF3 protein_coding The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008]. 2248 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005104, growth factor activity, protein binding, fibroblast growth factor receptor binding, GO:0055026, GO:0051897, GO:0051781, GO:0030334, GO:0030154, GO:0010628, GO:0009887, GO:0009653, GO:0008543, GO:0008543, GO:0008543, GO:0008284, GO:0008284, GO:0007267, GO:0007165, GO:0001934, GO:0000165, negative regulation of cardiac muscle tissue development, positive regulation of protein kinase B signaling, positive regulation of cell division, regulation of cell migration, cell differentiation, positive regulation of gene expression, animal organ morphogenesis, anatomical structure morphogenesis, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, positive regulation of protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000186897 chr12 49332411 49337188 - C1QL4 protein_coding 338761 GO:0005615, GO:0005581, extracellular space, collagen trimer, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0070373, GO:0048147, GO:0045599, negative regulation of ERK1 and ERK2 cascade, negative regulation of fibroblast proliferation, negative regulation of fat cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000186907 chr11 57460549 57477534 + RTN4RL2 protein_coding 349667 GO:0070062, GO:0046658, GO:0045121, GO:0043204, GO:0043005, GO:0031012, GO:0030425, GO:0030424, GO:0009986, GO:0009986, GO:0009897, GO:0005886, GO:0005615, GO:0005576, extracellular exosome, anchored component of plasma membrane, membrane raft, perikaryon, neuron projection, extracellular matrix, dendrite, axon, cell surface, cell surface, external side of plasma membrane, plasma membrane, extracellular space, extracellular region, GO:0038023, signaling receptor activity, GO:0031103, GO:0022038, GO:0010977, GO:0007166, axon regeneration, corpus callosum development, negative regulation of neuron projection development, cell surface receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000186908 chr12 76763588 76853696 + ZDHHC17 protein_coding 23390 GO:0043231, GO:0042995, GO:0042734, GO:0030660, GO:0030659, GO:0016235, GO:0016021, GO:0005794, GO:0000139, GO:0000139, intracellular membrane-bounded organelle, cell projection, presynaptic membrane, Golgi-associated vesicle membrane, cytoplasmic vesicle membrane, aggresome, integral component of membrane, Golgi apparatus, Golgi membrane, Golgi membrane, GO:0042802, GO:0019706, GO:0016409, GO:0016409, GO:0016409, GO:0015095, GO:0005515, GO:0005102, identical protein binding, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, palmitoyltransferase activity, palmitoyltransferase activity, magnesium ion transmembrane transporter activity, protein binding, signaling receptor binding, GO:1903830, GO:0070372, GO:0051386, GO:0043123, GO:0042953, GO:0018345, GO:0018345, GO:0018345, GO:0018230, GO:0007409, magnesium ion transmembrane transport, regulation of ERK1 and ERK2 cascade, regulation of neurotrophin TRK receptor signaling pathway, positive regulation of I-kappaB kinase/NF-kappaB signaling, lipoprotein transport, protein palmitoylation, protein palmitoylation, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, axonogenesis, 1126 1115 1302 1179 1481 1572 1337 994 1283 ENSG00000186910 chr14 94442464 94452790 - SERPINA11 protein_coding 256394 GO:0005615, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 3 5 6 4 7 0 10 10 10 ENSG00000186912 chrX 70258170 70259764 - P2RY4 protein_coding The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to uridine nucleotides, partially responsive to ATP, and not responsive to ADP. [provided by RefSeq, Jul 2008]. 5030 GO:0099059, GO:0016324, GO:0016323, GO:0005887, GO:0005886, integral component of presynaptic active zone membrane, apical plasma membrane, basolateral plasma membrane, integral component of plasma membrane, plasma membrane, GO:0045030, GO:0045028, GO:0005524, GO:0005515, G protein-coupled UTP receptor activity, G protein-coupled purinergic nucleotide receptor activity, ATP binding, protein binding, GO:0071380, GO:0071318, GO:0035589, GO:0030321, GO:0007204, GO:0007200, GO:0007186, cellular response to prostaglandin E stimulus, cellular response to ATP, G protein-coupled purinergic nucleotide receptor signaling pathway, transepithelial chloride transport, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 2 0 0 6 4 0 2 ENSG00000186918 chr8 28345585 28402701 - ZNF395 protein_coding 55893 GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0003700, GO:0003677, GO:0001228, GO:0000987, GO:0000978, GO:0000978, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0006355, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 54 59 52 63 88 73 55 78 64 ENSG00000186919 chr17 76071961 76083666 + ZACN protein_coding LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM, Mar 2008]. 353174 GO:0045202, GO:0043005, GO:0005887, GO:0005886, synapse, neuron projection, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0015276, GO:0008270, GO:0005230, GO:0004888, neurotransmitter receptor activity, ligand-gated ion channel activity, zinc ion binding, extracellular ligand-gated ion channel activity, transmembrane signaling receptor activity, GO:0050877, GO:0042391, GO:0034220, GO:0034220, GO:0010043, GO:0007268, GO:0007165, nervous system process, regulation of membrane potential, ion transmembrane transport, ion transmembrane transport, response to zinc ion, chemical synaptic transmission, signal transduction, 291 335 353 381 389 412 349 329 328 ENSG00000186924 chr21 30601087 30601382 + KRTAP22-1 protein_coding 337979 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186925 chr21 30541535 30541864 - KRTAP19-6 protein_coding 337973 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186930 chr21 30598590 30598902 - KRTAP6-2 protein_coding 337967 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186940 chr9 79391304 79391759 + CHCHD2P9 processed_pseudogene 12 8 6 5 4 5 5 12 3 ENSG00000186943 chr9 104569168 104570130 + OR13C8 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 138802 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000186951 chr22 46150521 46243756 + PPARA protein_coding Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]. 5465 GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0097371, GO:0051525, GO:0044877, GO:0043565, GO:0031624, GO:0019904, GO:0019902, GO:0008289, GO:0008270, GO:0008144, GO:0008134, GO:0005515, GO:0004879, GO:0004879, GO:0003707, GO:0003700, GO:0003700, GO:0003677, GO:0001228, GO:0001227, GO:0001227, GO:0001223, GO:0001103, GO:0001103, GO:0000981, GO:0000978, GO:0000978, MDM2/MDM4 family protein binding, NFAT protein binding, protein-containing complex binding, sequence-specific DNA binding, ubiquitin conjugating enzyme binding, protein domain specific binding, phosphatase binding, lipid binding, zinc ion binding, drug binding, transcription factor binding, protein binding, nuclear receptor activity, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription coactivator binding, RNA polymerase II repressing transcription factor binding, RNA polymerase II repressing transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001171, GO:2000191, GO:1903944, GO:1903427, GO:1903038, GO:1902894, GO:1901215, GO:1900016, GO:0070166, GO:0061052, GO:0051898, GO:0050728, GO:0050728, GO:0046889, GO:0046321, GO:0045944, GO:0045944, GO:0045944, GO:0045923, GO:0045893, GO:0045820, GO:0045776, GO:0045722, GO:0045471, GO:0045070, GO:0043401, GO:0042752, GO:0042157, GO:0042060, GO:0035095, GO:0033993, GO:0032922, GO:0032868, GO:0032099, GO:0032091, GO:0032000, GO:0030522, GO:0030512, GO:0030154, GO:0019217, GO:0019216, GO:0019216, GO:0010891, GO:0010887, GO:0010887, GO:0010876, GO:0010745, GO:0010745, GO:0010565, GO:0009755, GO:0009267, GO:0008544, GO:0007507, GO:0006631, GO:0006367, GO:0001666, GO:0000122, GO:0000122, positive regulation of ATP biosynthetic process, regulation of fatty acid transport, negative regulation of hepatocyte apoptotic process, negative regulation of reactive oxygen species biosynthetic process, negative regulation of leukocyte cell-cell adhesion, negative regulation of pri-miRNA transcription by RNA polymerase II, negative regulation of neuron death, negative regulation of cytokine production involved in inflammatory response, enamel mineralization, negative regulation of cell growth involved in cardiac muscle cell development, negative regulation of protein kinase B signaling, negative regulation of inflammatory response, negative regulation of inflammatory response, positive regulation of lipid biosynthetic process, positive regulation of fatty acid oxidation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of fatty acid metabolic process, positive regulation of transcription, DNA-templated, negative regulation of glycolytic process, negative regulation of blood pressure, positive regulation of gluconeogenesis, response to ethanol, positive regulation of viral genome replication, steroid hormone mediated signaling pathway, regulation of circadian rhythm, lipoprotein metabolic process, wound healing, behavioral response to nicotine, response to lipid, circadian regulation of gene expression, response to insulin, negative regulation of appetite, negative regulation of protein binding, positive regulation of fatty acid beta-oxidation, intracellular receptor signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, cell differentiation, regulation of fatty acid metabolic process, regulation of lipid metabolic process, regulation of lipid metabolic process, negative regulation of sequestering of triglyceride, negative regulation of cholesterol storage, negative regulation of cholesterol storage, lipid localization, negative regulation of macrophage derived foam cell differentiation, negative regulation of macrophage derived foam cell differentiation, regulation of cellular ketone metabolic process, hormone-mediated signaling pathway, cellular response to starvation, epidermis development, heart development, fatty acid metabolic process, transcription initiation from RNA polymerase II promoter, response to hypoxia, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 29 34 56 46 32 32 63 17 26 ENSG00000186952 chr5 110289233 110738956 - TMEM232 protein_coding 642987 GO:0016021, integral component of membrane, 0 0 0 1 3 4 2 0 0 ENSG00000186960 chr14 28772704 28813453 + LINC01551 lincRNA 387978 0 0 0 0 0 0 0 0 0 ENSG00000186965 chr21 30487057 30487436 - KRTAP19-2 protein_coding 337969 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186967 chr21 30496824 30497133 - KRTAP19-4 protein_coding 337971 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186970 chr21 30440275 30440945 + KRTAP15-1 protein_coding 254950 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186971 chr21 30430230 30431026 + KRTAP13-4 protein_coding 284827 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186973 chr1 43145153 43156396 + FAM183A protein_coding 440585 GO:0097546, ciliary base, 0 0 0 1 0 0 0 0 0 ENSG00000186976 chr22 43528744 43812337 - EFCAB6 protein_coding This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 64800 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0005509, calcium ion binding, 0 0 0 1 0 0 0 0 0 ENSG00000186977 chr21 30501657 30502117 - KRTAP19-5 protein_coding 337972 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186980 chr21 30348399 30348609 - KRTAP23-1 protein_coding 337963 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000186994 chr19 8322584 8343262 - KANK3 protein_coding 256949 GO:0005856, GO:0005737, cytoskeleton, cytoplasm, GO:0030837, negative regulation of actin filament polymerization, 3 1 6 55 37 67 29 28 34 ENSG00000186998 chr22 29205851 29259597 + EMID1 protein_coding 129080 GO:0031012, GO:0005794, GO:0005783, GO:0005581, extracellular matrix, Golgi apparatus, endoplasmic reticulum, collagen trimer, 1 0 1 5 1 1 0 0 0 ENSG00000187003 chr9 108862266 108863759 + ACTL7A protein_coding The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]. 10881 GO:0032991, GO:0031514, GO:0005869, GO:0005856, GO:0005794, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0001673, protein-containing complex, motile cilium, dynactin complex, cytoskeleton, Golgi apparatus, cytoplasm, cytoplasm, nucleus, nucleus, male germ cell nucleus, GO:0005515, GO:0005200, protein binding, structural constituent of cytoskeleton, GO:0007010, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000187005 chr21 30754830 30755428 - KRTAP21-1 protein_coding 337977 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, GO:0001942, keratinization, hair follicle development, 0 0 0 0 0 0 0 0 0 ENSG00000187010 chr1 25272393 25330445 + RHD protein_coding The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 6007 GO:0005887, integral component of plasma membrane, GO:0008519, ammonium transmembrane transporter activity, GO:0072488, ammonium transmembrane transport, 128 197 144 94 218 155 143 165 118 ENSG00000187012 chr22 44569339 44572341 + LINC00207 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000187013 chr17 61411751 61413280 + C17orf82 lincRNA 388407 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000187017 chr1 6424776 6461367 + ESPN protein_coding This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]. 83715 GO:0032426, GO:0032420, GO:0031941, GO:0005903, GO:0005902, GO:0005737, stereocilium tip, stereocilium, filamentous actin, brush border, microvillus, cytoplasm, GO:0051015, GO:0051015, GO:0017124, actin filament binding, actin filament binding, SH3 domain binding, GO:0051494, GO:0051491, GO:0051017, GO:0030034, GO:0007626, GO:0007605, negative regulation of cytoskeleton organization, positive regulation of filopodium assembly, actin filament bundle assembly, microvillar actin bundle assembly, locomotory behavior, sensory perception of sound, 13 3 25 30 2 12 15 5 14 ENSG00000187021 chr10 116590385 116609175 + PNLIPRP1 protein_coding 5407 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0016298, GO:0005515, GO:0005509, GO:0004806, lipase activity, protein binding, calcium ion binding, triglyceride lipase activity, GO:0006629, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000187024 chr9 127690348 127724873 - PTRH1 protein_coding 138428 GO:0005515, GO:0004045, GO:0003723, protein binding, aminoacyl-tRNA hydrolase activity, RNA binding, 4 8 5 8 13 13 4 11 23 ENSG00000187026 chr21 30746794 30747233 - KRTAP21-2 protein_coding 337978 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187033 chr3 169911572 169939175 + SAMD7 protein_coding 344658 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0045892, negative regulation of transcription, DNA-templated, 0 0 0 1 0 0 0 0 0 ENSG00000187037 chr7 37683796 37833788 + GPR141 protein_coding GPR141 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]. 353345 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 91 95 124 39 139 110 53 109 62 ENSG00000187045 chr22 37065436 37109713 - TMPRSS6 protein_coding The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 164656 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005615, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0097264, GO:0055072, GO:0055072, GO:0045944, GO:0045892, GO:0033619, GO:0030574, GO:0030514, GO:0022617, GO:0006879, GO:0000122, self proteolysis, iron ion homeostasis, iron ion homeostasis, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, membrane protein proteolysis, collagen catabolic process, negative regulation of BMP signaling pathway, extracellular matrix disassembly, cellular iron ion homeostasis, negative regulation of transcription by RNA polymerase II, 1 0 0 6 0 2 0 0 10 ENSG00000187048 chr1 46929177 46941484 - CYP4A11 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]. 1579 GO:0043231, GO:0043231, GO:0016324, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, apical plasma membrane, endoplasmic reticulum membrane, cytoplasm, GO:0102033, GO:0070330, GO:0050051, GO:0020037, GO:0018685, GO:0018685, GO:0008392, GO:0008391, GO:0005506, long-chain fatty acid omega-hydroxylase activity, aromatase activity, leukotriene-B4 20-monooxygenase activity, heme binding, alkane 1-monooxygenase activity, alkane 1-monooxygenase activity, arachidonic acid epoxygenase activity, arachidonic acid monooxygenase activity, iron ion binding, GO:0097267, GO:0055114, GO:0055078, GO:0048252, GO:0046456, GO:0043651, GO:0036101, GO:0032305, GO:0031408, GO:0019373, GO:0019369, GO:0019369, GO:0019216, GO:0006691, GO:0006631, GO:0003095, GO:0003091, GO:0001822, GO:0001676, omega-hydroxylase P450 pathway, oxidation-reduction process, sodium ion homeostasis, lauric acid metabolic process, icosanoid biosynthetic process, linoleic acid metabolic process, leukotriene B4 catabolic process, positive regulation of icosanoid secretion, oxylipin biosynthetic process, epoxygenase P450 pathway, arachidonic acid metabolic process, arachidonic acid metabolic process, regulation of lipid metabolic process, leukotriene metabolic process, fatty acid metabolic process, pressure natriuresis, renal water homeostasis, kidney development, long-chain fatty acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000187049 chr11 61391687 61398863 + TMEM216 protein_coding This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]. 51259 GO:0036038, GO:0035869, GO:0016021, GO:0005929, GO:0005856, GO:0005829, MKS complex, ciliary transition zone, integral component of membrane, cilium, cytoskeleton, cytosol, GO:0005515, protein binding, GO:1905515, GO:0097711, GO:0060271, non-motile cilium assembly, ciliary basal body-plasma membrane docking, cilium assembly, 102 79 70 37 53 45 70 91 44 ENSG00000187051 chr22 39529093 39532855 - RPS19BP1 protein_coding 91582 GO:0005829, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005654, cytosol, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleoplasm, GO:0019899, GO:0019899, GO:0005515, GO:0003723, enzyme binding, enzyme binding, protein binding, RNA binding, 290 211 284 137 229 224 140 205 176 ENSG00000187054 chr4 67909385 67964140 - TMPRSS11A protein_coding 339967 GO:0005887, GO:0005576, integral component of plasma membrane, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0007049, GO:0006508, cell cycle, proteolysis, 0 0 0 0 0 0 0 0 5 ENSG00000187066 chr11 65084979 65089375 - TMEM262 protein_coding 100130348 GO:0016021, integral component of membrane, GO:0005515, protein binding, 259 321 391 227 362 290 240 255 272 ENSG00000187068 chr3 185078050 185153014 - C3orf70 protein_coding 285382 GO:0048512, GO:0007399, circadian behavior, nervous system development, 0 0 1 0 6 4 0 3 0 ENSG00000187079 chr11 12674591 12944483 + TEAD1 protein_coding This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]. 7003 GO:0005667, GO:0005654, GO:0005654, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003700, GO:0003677, GO:0000987, GO:0000981, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, DNA binding, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902895, GO:0065003, GO:0048568, GO:0045944, GO:0045893, GO:0035329, GO:0035329, GO:0006367, GO:0006357, positive regulation of pri-miRNA transcription by RNA polymerase II, protein-containing complex assembly, embryonic organ development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, hippo signaling, hippo signaling, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 1 1 0 0 0 0 0 0 0 ENSG00000187080 chr1 247965233 247966386 + OR2AK2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391191 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000187082 chr8 7482504 7486400 - DEFB106B protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]. 503841 GO:1990742, GO:0019898, GO:0005634, microvesicle, extrinsic component of membrane, nucleus, GO:0031727, GO:0008201, GO:0005515, GO:0001530, CCR2 chemokine receptor binding, heparin binding, protein binding, lipopolysaccharide binding, GO:0061760, GO:0050830, GO:0050829, GO:0045087, antifungal innate immune response, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, 0 0 0 0 0 0 0 0 0 ENSG00000187091 chr3 38007496 38029762 - PLCD1 protein_coding This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 5333 GO:0070062, GO:0005886, GO:0005829, GO:0005737, extracellular exosome, plasma membrane, cytosol, cytoplasm, GO:0032794, GO:0005546, GO:0005515, GO:0005509, GO:0004435, GO:0004435, GTPase activating protein binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, calcium ion binding, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, GO:0060716, GO:0048015, GO:0046488, GO:0043647, GO:0042127, GO:0016042, GO:0006644, GO:0001525, labyrinthine layer blood vessel development, phosphatidylinositol-mediated signaling, phosphatidylinositol metabolic process, inositol phosphate metabolic process, regulation of cell population proliferation, lipid catabolic process, phospholipid metabolic process, angiogenesis, 89 90 144 109 168 206 148 106 162 ENSG00000187094 chr3 42257825 42266207 - CCK protein_coding This gene encodes a member of the gastrin/cholecystokinin family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the peptide hormones cholecystokinin-8, -12, -33, and others. The encoded peptides have been shown to regulate gastric acid secretion and food intake. A sulfated form of cholecystokinin-8 may modulate neuronal activity in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. 885 GO:0043204, GO:0043203, GO:0043195, GO:0043194, GO:0030425, GO:0030424, GO:0030424, GO:0005615, GO:0005576, perikaryon, axon hillock, terminal bouton, axon initial segment, dendrite, axon, axon, extracellular space, extracellular region, GO:0051428, GO:0005515, GO:0005184, GO:0005184, peptide hormone receptor binding, protein binding, neuropeptide hormone activity, neuropeptide hormone activity, GO:2000987, GO:2000986, GO:1904058, GO:1903999, GO:0051901, GO:0050731, GO:0042755, GO:0032099, GO:0031334, GO:0014049, GO:0008542, GO:0008284, GO:0007613, GO:0007586, GO:0007409, GO:0007205, GO:0007186, GO:0007165, GO:0006919, GO:0001836, GO:0001764, positive regulation of behavioral fear response, negative regulation of behavioral fear response, positive regulation of sensory perception of pain, negative regulation of eating behavior, positive regulation of mitochondrial depolarization, positive regulation of peptidyl-tyrosine phosphorylation, eating behavior, negative regulation of appetite, positive regulation of protein-containing complex assembly, positive regulation of glutamate secretion, visual learning, positive regulation of cell population proliferation, memory, digestion, axonogenesis, protein kinase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, activation of cysteine-type endopeptidase activity involved in apoptotic process, release of cytochrome c from mitochondria, neuron migration, 0 0 0 3 0 0 0 0 0 ENSG00000187097 chr14 73958010 74019399 - ENTPD5 protein_coding The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]. 957 GO:0016020, GO:0005783, GO:0005576, membrane, endoplasmic reticulum, extracellular region, GO:0045134, GO:0045134, GO:0017110, GO:0005515, GO:0004382, GO:0004382, uridine-diphosphatase activity, uridine-diphosphatase activity, nucleoside-diphosphatase activity, protein binding, guanosine-diphosphatase activity, guanosine-diphosphatase activity, GO:0051084, GO:0046034, GO:0045821, GO:0034656, GO:0014066, GO:0009134, GO:0006487, 'de novo' posttranslational protein folding, ATP metabolic process, positive regulation of glycolytic process, nucleobase-containing small molecule catabolic process, regulation of phosphatidylinositol 3-kinase signaling, nucleoside diphosphate catabolic process, protein N-linked glycosylation, 19 31 40 47 39 82 50 32 28 ENSG00000187098 chr3 69739435 69968337 + MITF protein_coding The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]. 4286 GO:0032991, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, chromatin, GO:0070888, GO:0046983, GO:0005515, GO:0003682, GO:0001228, GO:0001228, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, E-box binding, protein dimerization activity, protein binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001141, GO:2000144, GO:0065003, GO:0046849, GO:0045944, GO:0045944, GO:0045893, GO:0045893, GO:0045670, GO:0045165, GO:0044336, GO:0043010, GO:0042127, GO:0030336, GO:0030318, GO:0030318, GO:0030316, GO:0010628, GO:0010628, GO:0006357, GO:0006355, GO:0006355, GO:0006351, GO:0000122, regulation of RNA biosynthetic process, positive regulation of DNA-templated transcription, initiation, protein-containing complex assembly, bone remodeling, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of osteoclast differentiation, cell fate commitment, canonical Wnt signaling pathway involved in negative regulation of apoptotic process, camera-type eye development, regulation of cell population proliferation, negative regulation of cell migration, melanocyte differentiation, melanocyte differentiation, osteoclast differentiation, positive regulation of gene expression, positive regulation of gene expression, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 2 1 2 4 4 3 2 1 ENSG00000187103 chr6 146171315 146171847 + FUNDC2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187105 chr14 73478484 73558947 - HEATR4 protein_coding 399671 GO:0019135, GO:0016491, deoxyhypusine monooxygenase activity, oxidoreductase activity, GO:0055114, GO:0008612, oxidation-reduction process, peptidyl-lysine modification to peptidyl-hypusine, 9 5 13 8 4 4 13 14 10 ENSG00000187109 chr12 76036587 76085033 - NAP1L1 protein_coding This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]. 4673 GO:0042470, GO:0016020, GO:0005737, GO:0005634, GO:0005634, melanosome, membrane, cytoplasm, nucleus, nucleus, GO:0042393, GO:0005515, GO:0003723, GO:0003682, histone binding, protein binding, RNA binding, chromatin binding, GO:2000179, GO:0050769, GO:0030154, GO:0008284, GO:0006334, GO:0006260, positive regulation of neural precursor cell proliferation, positive regulation of neurogenesis, cell differentiation, positive regulation of cell population proliferation, nucleosome assembly, DNA replication, 519 443 909 1081 544 1120 906 466 777 ENSG00000187116 chr19 54307070 54313139 - LILRA5 protein_coding The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. 353514 GO:0016021, GO:0009986, GO:0005886, GO:0005576, integral component of membrane, cell surface, plasma membrane, extracellular region, GO:0061098, GO:0051928, GO:0050867, GO:0050729, GO:0045087, GO:0043410, GO:0032760, GO:0032755, GO:0032733, GO:0032731, GO:0032696, GO:0032695, positive regulation of protein tyrosine kinase activity, positive regulation of calcium ion transport, positive regulation of cell activation, positive regulation of inflammatory response, innate immune response, positive regulation of MAPK cascade, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 beta production, negative regulation of interleukin-13 production, negative regulation of interleukin-12 production, 5 1 3 2 3 2 0 3 4 ENSG00000187118 chr3 28241584 28325142 + CMC1 protein_coding 152100 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0046872, metal ion binding, 122 127 174 262 157 319 198 143 246 ENSG00000187122 chr10 96998038 97185920 - SLIT1 protein_coding 6585 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0048495, GO:0048495, GO:0008201, GO:0005515, GO:0005509, Roundabout binding, Roundabout binding, heparin binding, protein binding, calcium ion binding, GO:0051964, GO:0050919, GO:0050919, GO:0048853, GO:0048846, GO:0033563, GO:0031290, GO:0021834, GO:0008045, GO:0007411, GO:0007411, GO:0007097, negative regulation of synapse assembly, negative chemotaxis, negative chemotaxis, forebrain morphogenesis, axon extension involved in axon guidance, dorsal/ventral axon guidance, retinal ganglion cell axon guidance, chemorepulsion involved in embryonic olfactory bulb interneuron precursor migration, motor neuron axon guidance, axon guidance, axon guidance, nuclear migration, 26 31 18 42 60 75 50 25 21 ENSG00000187123 chr2 149329985 149474148 + LYPD6 protein_coding Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010]. 130574 GO:0045202, GO:0045121, GO:0043005, GO:0031225, GO:0005886, GO:0005737, GO:0005576, synapse, membrane raft, neuron projection, anchored component of membrane, plasma membrane, cytoplasm, extracellular region, GO:0030550, GO:0030550, GO:0030548, GO:0005515, acetylcholine receptor inhibitor activity, acetylcholine receptor inhibitor activity, acetylcholine receptor regulator activity, protein binding, GO:2000272, GO:0099601, GO:0090263, negative regulation of signaling receptor activity, regulation of neurotransmitter receptor activity, positive regulation of canonical Wnt signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000187134 chr10 4963253 4983283 + AKR1C1 protein_coding This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]. 1645 GO:0070062, GO:0005829, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, cytosol, GO:0047718, GO:0047115, GO:0047086, GO:0047086, GO:0047042, GO:0047023, GO:0047006, GO:0032052, GO:0032052, GO:0031406, GO:0018636, GO:0016655, GO:0016229, GO:0005515, GO:0004033, GO:0004032, GO:0004032, indanol dehydrogenase activity, trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity, ketosteroid monooxygenase activity, ketosteroid monooxygenase activity, androsterone dehydrogenase (B-specific) activity, androsterone dehydrogenase activity, 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity, bile acid binding, bile acid binding, carboxylic acid binding, phenanthrene 9,10-monooxygenase activity, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, steroid dehydrogenase activity, protein binding, aldo-keto reductase (NADP) activity, alditol:NADP+ 1-oxidoreductase activity, alditol:NADP+ 1-oxidoreductase activity, GO:0071395, GO:0055114, GO:0046683, GO:0044598, GO:0044598, GO:0044597, GO:0044597, GO:0042632, GO:0042574, GO:0042448, GO:0042448, GO:0030855, GO:0030299, GO:0015721, GO:0008206, GO:0008202, GO:0007586, GO:0006805, GO:0006693, GO:0001523, cellular response to jasmonic acid stimulus, oxidation-reduction process, response to organophosphorus, doxorubicin metabolic process, doxorubicin metabolic process, daunorubicin metabolic process, daunorubicin metabolic process, cholesterol homeostasis, retinal metabolic process, progesterone metabolic process, progesterone metabolic process, epithelial cell differentiation, intestinal cholesterol absorption, bile acid and bile salt transport, bile acid metabolic process, steroid metabolic process, digestion, xenobiotic metabolic process, prostaglandin metabolic process, retinoid metabolic process, 1 6 6 1 0 2 1 0 2 ENSG00000187135 chr19 29526499 29564479 + VSTM2B protein_coding 342865 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000187140 chr1 63323041 63325126 + FOXD3 protein_coding This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]. 27022 GO:0005654, GO:0000785, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0035019, GO:0030154, GO:0009653, GO:0006357, GO:0001701, GO:0000122, GO:0000122, positive regulation of transcription by RNA polymerase II, somatic stem cell population maintenance, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, in utero embryonic development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 11 4 8 5 1 4 ENSG00000187144 chr1 16387117 16437424 - SPATA21 protein_coding 374955 GO:0005509, calcium ion binding, 490 491 707 150 228 294 216 232 252 ENSG00000187147 chr1 44405194 44651724 + RNF220 protein_coding 55182 GO:0005737, cytoplasm, GO:0061630, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0090263, GO:0051865, GO:0016567, GO:0016567, positive regulation of canonical Wnt signaling pathway, protein autoubiquitination, protein ubiquitination, protein ubiquitination, 171 166 221 180 225 226 157 180 193 ENSG00000187151 chr11 101890674 101916522 - ANGPTL5 protein_coding 253935 GO:0062023, GO:0005615, collagen-containing extracellular matrix, extracellular space, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000187164 chr10 116881482 117126586 - SHTN1 protein_coding 57698 GO:0048471, GO:0044295, GO:0043204, GO:0031252, GO:0030426, GO:0030424, GO:0030175, GO:0030027, GO:0015630, GO:0005875, GO:0005874, GO:0005737, perinuclear region of cytoplasm, axonal growth cone, perikaryon, cell leading edge, growth cone, axon, filopodium, lamellipodium, microtubule cytoskeleton, microtubule associated complex, microtubule, cytoplasm, GO:0051015, GO:0045296, GO:0019894, GO:0005515, actin filament binding, cadherin binding, kinesin binding, protein binding, GO:2001224, GO:2000114, GO:0061573, GO:0061163, GO:0060327, GO:0048812, GO:0045773, GO:0038007, GO:0032488, GO:0007409, GO:0007265, GO:0006930, positive regulation of neuron migration, regulation of establishment of cell polarity, actin filament bundle retrograde transport, endoplasmic reticulum polarization, cytoplasmic actin-based contraction involved in cell motility, neuron projection morphogenesis, positive regulation of axon extension, netrin-activated signaling pathway, Cdc42 protein signal transduction, axonogenesis, Ras protein signal transduction, substrate-dependent cell migration, cell extension, 5 10 16 10 18 35 29 11 10 ENSG00000187166 chr12 48328980 48330279 + H1FNT protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. The related mouse gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 2015]. 341567 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005524, GO:0005515, GO:0003677, ATP binding, protein binding, DNA binding, GO:0035092, GO:0030261, GO:0007290, GO:0007275, sperm chromatin condensation, chromosome condensation, spermatid nucleus elongation, multicellular organism development, 0 1 0 0 4 0 5 1 0 ENSG00000187170 chr1 152708160 152709491 + LCE4A protein_coding 199834 GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187172 chr21 10413477 10516431 + BAGE2 transcribed_unprocessed_pseudogene 85319 0 0 1 1 0 0 0 0 0 ENSG00000187173 chr1 152698364 152699442 + LCE2A protein_coding 353139 GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187175 chr21 44681576 44682163 - KRTAP12-1 protein_coding 353332 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187180 chr1 152675295 152676574 + LCE2C protein_coding 353140 GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187185 chr16 57798186 57816946 + AC092118.1 lincRNA 388282 2 0 1 1 0 0 0 2 1 ENSG00000187186 chr9 34664163 34666112 - AL162231.1 protein_coding 730098 3 9 3 37 70 75 38 58 49 ENSG00000187187 chr19 39984134 40021041 + ZNF546 protein_coding 339327 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 5 8 6 19 17 23 12 12 1 ENSG00000187189 chr6 116249961 116254140 - TSPYL4 protein_coding 23270 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0006334, nucleosome assembly, 110 80 162 85 57 165 77 75 87 ENSG00000187191 chrY 24763069 24813492 - DAZ3 protein_coding This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008]. 57054 GO:0032991, GO:0005737, GO:0005634, protein-containing complex, cytoplasm, nucleus, GO:0008494, GO:0005515, GO:0003730, translation activator activity, protein binding, mRNA 3'-UTR binding, GO:0070935, GO:0045948, GO:0030154, GO:0007283, GO:0007275, 3'-UTR-mediated mRNA stabilization, positive regulation of translational initiation, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000187193 chr16 56682424 56684196 + MT1X protein_coding 4501 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0071294, GO:0071294, GO:0071280, GO:0071276, GO:0071276, GO:0045926, GO:0036018, GO:0010273, GO:0010038, GO:0006882, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, cellular response to cadmium ion, negative regulation of growth, cellular response to erythropoietin, detoxification of copper ion, response to metal ion, cellular zinc ion homeostasis, 0 0 1 4 7 1 6 1 3 ENSG00000187210 chr9 76419850 76651203 + GCNT1 protein_coding This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 2650 GO:0031985, GO:0016021, GO:0005802, GO:0005615, GO:0000139, Golgi cisterna, integral component of membrane, trans-Golgi network, extracellular space, Golgi membrane, GO:0005515, GO:0003829, protein binding, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity, GO:0060993, GO:0060352, GO:0050901, GO:0048729, GO:0032868, GO:0016266, GO:0009101, kidney morphogenesis, cell adhesion molecule production, leukocyte tethering or rolling, tissue morphogenesis, response to insulin, O-glycan processing, glycoprotein biosynthetic process, 24 26 62 22 28 31 11 14 19 ENSG00000187223 chr1 152663396 152664659 + LCE2D protein_coding 353141 GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187229 chr8 18720905 18734405 + AC100800.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000187231 chr2 179101692 179264790 - SESTD1 protein_coding 91404 GO:0045111, GO:0034704, intermediate filament cytoskeleton, calcium channel complex, GO:0080025, GO:0070300, GO:0070273, GO:0043325, GO:0032266, GO:0031210, GO:0010314, GO:0005546, GO:0005545, GO:0005515, GO:0001786, phosphatidylinositol-3,5-bisphosphate binding, phosphatidic acid binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylcholine binding, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-4,5-bisphosphate binding, 1-phosphatidylinositol binding, protein binding, phosphatidylserine binding, GO:1904878, negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, 176 110 119 119 135 116 139 74 99 ENSG00000187238 chr1 152613811 152614098 + LCE3B protein_coding 353143 GO:0005515, protein binding, GO:0050830, GO:0050829, GO:0031640, GO:0031424, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, killing of cells of other organism, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187239 chr9 129887187 130043194 - FNBP1 protein_coding The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]. 23048 GO:0031410, GO:0005938, GO:0005905, GO:0005856, GO:0005829, GO:0005764, cytoplasmic vesicle, cell cortex, clathrin-coated pit, cytoskeleton, cytosol, lysosome, GO:0042802, GO:0008289, GO:0005515, identical protein binding, lipid binding, protein binding, GO:0061024, GO:0007165, GO:0006897, membrane organization, signal transduction, endocytosis, 2010 1802 2156 1283 1415 1405 1301 1154 1190 ENSG00000187240 chr11 103109410 103479863 + DYNC2H1 protein_coding This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]. 79659 GO:0097542, GO:0070062, GO:0045177, GO:0031514, GO:0030286, GO:0005930, GO:0005929, GO:0005886, GO:0005874, GO:0005868, GO:0005868, GO:0005794, ciliary tip, extracellular exosome, apical part of cell, motile cilium, dynein complex, axoneme, cilium, plasma membrane, microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, Golgi apparatus, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0005515, GO:0003774, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, protein binding, motor activity, GO:1905515, GO:0061512, GO:0060976, GO:0060271, GO:0045880, GO:0035735, GO:0035721, GO:0030900, GO:0030326, GO:0021522, GO:0016485, GO:0009953, GO:0007368, GO:0007030, GO:0007018, GO:0001822, non-motile cilium assembly, protein localization to cilium, coronary vasculature development, cilium assembly, positive regulation of smoothened signaling pathway, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, forebrain development, embryonic limb morphogenesis, spinal cord motor neuron differentiation, protein processing, dorsal/ventral pattern formation, determination of left/right symmetry, Golgi organization, microtubule-based movement, kidney development, 11 13 23 27 1 24 29 8 9 ENSG00000187242 chr17 40860943 40867224 - KRT12 protein_coding KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]. 3859 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0005198, structural molecule activity, GO:0070268, GO:0061303, GO:0031424, GO:0007601, GO:0002009, cornification, cornea development in camera-type eye, keratinization, visual perception, morphogenesis of an epithelium, 0 0 0 0 0 0 0 0 0 ENSG00000187243 chrX 52061827 52069248 - MAGED4B protein_coding This gene is a member of the MAGED gene family. It is expressed only in brain and ovary, and some transcript variants of this gene are specifically expressed in glioma cells. This gene is clustered with other MAGED genes on chromosome Xp11. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]. 81557 GO:0005575, cellular_component, GO:0005515, protein binding, GO:0008150, biological_process, 0 0 1 0 0 0 0 3 0 ENSG00000187244 chr19 44809059 44821421 + BCAM protein_coding This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 4059 GO:0070062, GO:0062023, GO:0009897, GO:0005887, GO:0005886, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0043236, GO:0008022, GO:0005515, GO:0005055, GO:0004888, laminin binding, protein C-terminus binding, protein binding, laminin receptor activity, transmembrane signaling receptor activity, GO:0007165, GO:0007160, GO:0007155, signal transduction, cell-matrix adhesion, cell adhesion, 0 0 0 3 0 0 0 0 0 ENSG00000187257 chr7 77696443 77783022 + RSBN1L protein_coding 222194 GO:0005634, nucleus, GO:0051213, GO:0046872, dioxygenase activity, metal ion binding, GO:0055114, oxidation-reduction process, 745 745 685 867 1214 976 894 818 801 ENSG00000187258 chr7 34658239 34878332 + NPSR1 protein_coding This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 387129 GO:0005887, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0008188, GO:0005000, neuropeptide receptor activity, vasopressin receptor activity, GO:0051281, GO:0007218, GO:0007186, positive regulation of release of sequestered calcium ion into cytosol, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000187260 chr7 151375909 151410727 - WDR86 protein_coding 349136 166 117 168 115 122 165 106 69 119 ENSG00000187266 chr19 11377205 11384342 - EPOR protein_coding This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 2057 GO:0016607, GO:0005887, GO:0005886, GO:0005886, GO:0005576, nuclear speck, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0042802, GO:0005515, GO:0004900, identical protein binding, protein binding, erythropoietin receptor activity, GO:0046697, GO:0046579, GO:0038162, GO:0014068, GO:0007507, GO:0007420, GO:0007165, decidualization, positive regulation of Ras protein signal transduction, erythropoietin-mediated signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, heart development, brain development, signal transduction, 181 390 281 87 190 102 99 154 114 ENSG00000187268 chrX 13035618 13044682 - FAM9C protein_coding This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011]. 171484 GO:0000795, synaptonemal complex, GO:0005515, protein binding, GO:0051321, GO:0007286, meiotic cell cycle, spermatid development, 0 0 0 0 0 0 0 0 0 ENSG00000187272 chr17 41238045 41239004 + KRTAP9-8 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 83901 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187288 chr3 9866711 9880254 - CIDEC protein_coding This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. 63924 GO:0005829, GO:0005829, GO:0005811, GO:0005783, GO:0005634, cytosol, cytosol, lipid droplet, endoplasmic reticulum, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097194, GO:0042981, GO:0034389, GO:0034389, GO:0006915, execution phase of apoptosis, regulation of apoptotic process, lipid droplet organization, lipid droplet organization, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000187323 chr18 52340172 53535903 + DCC protein_coding This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]. 1630 GO:0099061, GO:0098685, GO:0030424, GO:0005886, GO:0005829, integral component of postsynaptic density membrane, Schaffer collateral - CA1 synapse, axon, plasma membrane, cytosol, GO:0005515, GO:0005042, GO:0004888, protein binding, netrin receptor activity, transmembrane signaling receptor activity, GO:2000171, GO:1902842, GO:1901214, GO:0099170, GO:0097192, GO:0048671, GO:0038007, GO:0033564, GO:0033563, GO:0021965, GO:0010977, GO:0007411, GO:0007409, GO:0006915, GO:0001764, negative regulation of dendrite development, negative regulation of netrin-activated signaling pathway, regulation of neuron death, postsynaptic modulation of chemical synaptic transmission, extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of collateral sprouting, netrin-activated signaling pathway, anterior/posterior axon guidance, dorsal/ventral axon guidance, spinal cord ventral commissure morphogenesis, negative regulation of neuron projection development, axon guidance, axonogenesis, apoptotic process, neuron migration, 0 0 0 0 0 0 0 0 0 ENSG00000187325 chrX 78129748 78139706 - TAF9B protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process. [provided by RefSeq, Jul 2008]. 51616 GO:0033276, GO:0005669, GO:0005669, GO:0005654, transcription factor TFTC complex, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, GO:0046982, GO:0016251, GO:0016251, GO:0005515, GO:0003714, protein heterodimerization activity, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, transcription corepressor activity, GO:1902166, GO:1901796, GO:0050821, GO:0043066, GO:0030307, GO:0016579, GO:0006367, GO:0006366, GO:0006366, GO:0000122, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, regulation of signal transduction by p53 class mediator, protein stabilization, negative regulation of apoptotic process, positive regulation of cell growth, protein deubiquitination, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 156 157 142 82 135 145 116 97 144 ENSG00000187372 chr5 141213919 141218979 + PCDHB13 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56123 GO:0097381, GO:0045211, GO:0032391, GO:0016021, GO:0005887, photoreceptor disc membrane, postsynaptic membrane, photoreceptor connecting cilium, integral component of membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007416, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 1 0 0 0 0 0 0 0 0 ENSG00000187391 chr7 78017057 79453574 - MAGI2 protein_coding The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]. 9863 GO:0048471, GO:0045202, GO:0036057, GO:0032991, GO:0030425, GO:0030425, GO:0014069, GO:0005923, GO:0005911, GO:0005886, GO:0005770, GO:0005737, GO:0005737, GO:0005634, perinuclear region of cytoplasm, synapse, slit diaphragm, protein-containing complex, dendrite, dendrite, postsynaptic density, bicellular tight junction, cell-cell junction, plasma membrane, late endosome, cytoplasm, cytoplasm, nucleus, GO:0070699, GO:0070699, GO:0046332, GO:0046332, GO:0031697, GO:0031697, GO:0030159, GO:0030159, GO:0019902, GO:0005515, type II activin receptor binding, type II activin receptor binding, SMAD binding, SMAD binding, beta-1 adrenergic receptor binding, beta-1 adrenergic receptor binding, signaling receptor complex adaptor activity, signaling receptor complex adaptor activity, phosphatase binding, protein binding, GO:2000809, GO:1990090, GO:0097118, GO:0072015, GO:0071850, GO:0060395, GO:0051898, GO:0043113, GO:0043113, GO:0038180, GO:0032926, GO:0032516, GO:0030336, GO:0010976, GO:0008285, GO:0007165, GO:0003402, GO:0002092, positive regulation of synaptic vesicle clustering, cellular response to nerve growth factor stimulus, neuroligin clustering involved in postsynaptic membrane assembly, glomerular visceral epithelial cell development, mitotic cell cycle arrest, SMAD protein signal transduction, negative regulation of protein kinase B signaling, receptor clustering, receptor clustering, nerve growth factor signaling pathway, negative regulation of activin receptor signaling pathway, positive regulation of phosphoprotein phosphatase activity, negative regulation of cell migration, positive regulation of neuron projection development, negative regulation of cell population proliferation, signal transduction, planar cell polarity pathway involved in axis elongation, positive regulation of receptor internalization, 0 0 1 3 2 7 3 1 0 ENSG00000187398 chr11 24496970 25082631 + LUZP2 protein_coding This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]. 338645 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000187416 chr7 104328656 104907232 + LHFPL3 protein_coding This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]. 375612 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0005515, protein binding, GO:0007605, sensory perception of sound, 0 0 0 0 0 0 3 0 0 ENSG00000187446 chr15 41230839 41281890 + CHP1 protein_coding This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]. 11261 GO:0070062, GO:0030133, GO:0015630, GO:0005925, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005793, GO:0005783, GO:0005737, GO:0005634, GO:0000139, extracellular exosome, transport vesicle, microtubule cytoskeleton, focal adhesion, plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, cytoplasm, nucleus, Golgi membrane, GO:0048306, GO:0019900, GO:0015459, GO:0008017, GO:0005515, GO:0005509, GO:0004860, calcium-dependent protein binding, kinase binding, potassium channel regulator activity, microtubule binding, protein binding, calcium ion binding, protein kinase inhibitor activity, GO:1901214, GO:0090314, GO:0071468, GO:0071073, GO:0070885, GO:0061025, GO:0061024, GO:0060050, GO:0051453, GO:0051259, GO:0051222, GO:0050821, GO:0042308, GO:0032417, GO:0032417, GO:0032088, GO:0031953, GO:0031397, GO:0031122, GO:0030214, GO:0022406, GO:0017156, GO:0010923, GO:0007264, GO:0006813, GO:0006611, GO:0006469, GO:0001933, GO:0001578, regulation of neuron death, positive regulation of protein targeting to membrane, cellular response to acidic pH, positive regulation of phospholipid biosynthetic process, negative regulation of calcineurin-NFAT signaling cascade, membrane fusion, membrane organization, positive regulation of protein glycosylation, regulation of intracellular pH, protein complex oligomerization, positive regulation of protein transport, protein stabilization, negative regulation of protein import into nucleus, positive regulation of sodium:proton antiporter activity, positive regulation of sodium:proton antiporter activity, negative regulation of NF-kappaB transcription factor activity, negative regulation of protein autophosphorylation, negative regulation of protein ubiquitination, cytoplasmic microtubule organization, hyaluronan catabolic process, membrane docking, calcium-ion regulated exocytosis, negative regulation of phosphatase activity, small GTPase mediated signal transduction, potassium ion transport, protein export from nucleus, negative regulation of protein kinase activity, negative regulation of protein phosphorylation, microtubule bundle formation, 1851 1748 2383 756 1040 1002 775 879 798 ENSG00000187472 chr6 98780257 98780505 - AL589826.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187474 chr19 51795163 51826189 + FPR3 protein_coding 2359 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004982, GO:0004930, GO:0004875, N-formyl peptide receptor activity, G protein-coupled receptor activity, complement receptor activity, GO:0007204, GO:0007200, GO:0007186, GO:0007165, GO:0006954, GO:0006935, GO:0002430, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, complement receptor mediated signaling pathway, 1 4 8 1 2 0 2 1 0 ENSG00000187475 chr6 26107419 26108136 - HIST1H1T protein_coding Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 3010 GO:0005634, GO:0005634, GO:0000791, GO:0000786, nucleus, nucleus, euchromatin, nucleosome, GO:0031492, GO:0003690, nucleosomal DNA binding, double-stranded DNA binding, GO:0045910, GO:0031936, GO:0030261, GO:0030154, GO:0016584, GO:0007283, GO:0007275, GO:0006334, negative regulation of DNA recombination, negative regulation of chromatin silencing, chromosome condensation, cell differentiation, nucleosome positioning, spermatogenesis, multicellular organism development, nucleosome assembly, 8 27 5 11 49 27 23 22 23 ENSG00000187479 chr11 43942505 43944338 + C11orf96 protein_coding 387763 0 2 1 1 4 0 0 0 5 ENSG00000187481 chr1 119467221 119473803 + HSD3BP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187483 chr14 94640725 94646994 + SERPINA13P transcribed_unprocessed_pseudogene 388007 0 0 0 0 0 0 0 0 0 ENSG00000187486 chr11 17385859 17389331 - KCNJ11 protein_coding Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]. 3767 GO:0070852, GO:0043209, GO:0043025, GO:0030673, GO:0030315, GO:0014704, GO:0008282, GO:0008282, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005783, GO:0005768, GO:0005739, GO:0005635, GO:0001669, cell body fiber, myelin sheath, neuronal cell body, axolemma, T-tubule, intercalated disc, inward rectifying potassium channel, inward rectifying potassium channel, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, endoplasmic reticulum, endosome, mitochondrion, nuclear envelope, acrosomal vesicle, GO:0044325, GO:0031072, GO:0030955, GO:0030506, GO:0019829, GO:0015272, GO:0015272, GO:0015272, GO:0008022, GO:0005524, GO:0005524, GO:0005515, GO:0005249, GO:0005242, ion channel binding, heat shock protein binding, potassium ion binding, ankyrin binding, ATPase-coupled cation transmembrane transporter activity, ATP-activated inward rectifier potassium channel activity, ATP-activated inward rectifier potassium channel activity, ATP-activated inward rectifier potassium channel activity, protein C-terminus binding, ATP binding, ATP binding, protein binding, voltage-gated potassium channel activity, inward rectifier potassium channel activity, GO:2001259, GO:1990573, GO:1990573, GO:1903779, GO:1903078, GO:0098662, GO:0071805, GO:0071805, GO:0071356, GO:0071333, GO:0071316, GO:0055085, GO:0050877, GO:0050796, GO:0050796, GO:0046676, GO:0042493, GO:0042391, GO:0034765, GO:0033574, GO:0033198, GO:0032355, GO:0006006, GO:0002931, positive regulation of cation channel activity, potassium ion import across plasma membrane, potassium ion import across plasma membrane, regulation of cardiac conduction, positive regulation of protein localization to plasma membrane, inorganic cation transmembrane transport, potassium ion transmembrane transport, potassium ion transmembrane transport, cellular response to tumor necrosis factor, cellular response to glucose stimulus, cellular response to nicotine, transmembrane transport, nervous system process, regulation of insulin secretion, regulation of insulin secretion, negative regulation of insulin secretion, response to drug, regulation of membrane potential, regulation of ion transmembrane transport, response to testosterone, response to ATP, response to estradiol, glucose metabolic process, response to ischemia, 0 0 2 0 0 0 0 0 0 ENSG00000187492 chr3 49790732 49799835 - CDHR4 protein_coding 389118 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 1 0 0 5 6 0 4 6 0 ENSG00000187498 chr13 110148963 110307233 - COL4A1 protein_coding This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 1282 GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005604, GO:0005604, GO:0005587, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, basement membrane, basement membrane, collagen type IV trimer, extracellular region, extracellular region, GO:0048407, GO:0030020, GO:0030020, GO:0030020, GO:0005515, GO:0005201, GO:0005201, platelet-derived growth factor binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0071711, GO:0071230, GO:0061333, GO:0061304, GO:0048514, GO:0038063, GO:0030855, GO:0030198, GO:0030198, GO:0007528, GO:0007420, GO:0001569, basement membrane organization, cellular response to amino acid stimulus, renal tubule morphogenesis, retinal blood vessel morphogenesis, blood vessel morphogenesis, collagen-activated tyrosine kinase receptor signaling pathway, epithelial cell differentiation, extracellular matrix organization, extracellular matrix organization, neuromuscular junction development, brain development, branching involved in blood vessel morphogenesis, 3 2 6 1 0 0 3 1 0 ENSG00000187504 chr17 51502488 51503233 - RPL7P48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187510 chr12 92702843 92772455 + PLEKHG7 protein_coding 440107 GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0007266, Rho protein signal transduction, 0 0 0 1 0 2 4 2 2 ENSG00000187513 chr1 34792998 34795747 + GJA4 protein_coding This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]. 2701 GO:0005922, GO:0005921, GO:0005887, connexin complex, gap junction, integral component of plasma membrane, GO:0005515, GO:0005243, protein binding, gap junction channel activity, GO:0055085, GO:0048265, GO:0007267, GO:0007043, GO:0006816, GO:0003158, GO:0001568, transmembrane transport, response to pain, cell-cell signaling, cell-cell junction assembly, calcium ion transport, endothelium development, blood vessel development, 0 3 0 0 0 15 0 1 0 ENSG00000187514 chr2 231706895 231713541 + PTMA protein_coding 5757 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0042393, GO:0033613, GO:0005515, histone binding, activating transcription factor binding, protein binding, GO:0043486, GO:0043066, GO:0006351, histone exchange, negative regulation of apoptotic process, transcription, DNA-templated, 1673 1755 2657 2927 2549 3357 2284 1891 2664 ENSG00000187516 chrX 37990817 37991317 + HYPM protein_coding This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011]. 25763 GO:0000785, chromatin, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0006342, chromatin silencing, 0 0 0 0 0 0 0 0 0 ENSG00000187522 chr10 14838164 14871741 + HSPA14 protein_coding 51182 GO:0016020, GO:0005886, GO:0005840, GO:0005840, GO:0005829, GO:0005829, GO:0005737, GO:0005634, membrane, plasma membrane, ribosome, ribosome, cytosol, cytosol, cytoplasm, nucleus, GO:0051787, GO:0051082, GO:0044183, GO:0031072, GO:0016887, GO:0005524, GO:0005515, misfolded protein binding, unfolded protein binding, protein folding chaperone, heat shock protein binding, ATPase activity, ATP binding, protein binding, GO:0051085, GO:0051083, GO:0042026, GO:0034620, GO:0016192, chaperone cofactor-dependent protein refolding, 'de novo' cotranslational protein folding, protein refolding, cellular response to unfolded protein, vesicle-mediated transport, 56 47 80 41 55 72 60 46 54 ENSG00000187527 chr3 193274790 193378843 - ATP13A5 protein_coding This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017]. 344905 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0046872, GO:0016887, GO:0005524, metal ion binding, ATPase activity, ATP binding, GO:0034220, GO:0006874, GO:0006812, ion transmembrane transport, cellular calcium ion homeostasis, cation transport, 0 0 0 1 0 0 0 0 0 ENSG00000187531 chr17 81911939 81921323 - SIRT7 protein_coding This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]. 51547 GO:0035861, GO:0005737, GO:0005731, GO:0005730, GO:0005654, GO:0005634, GO:0005634, GO:0000785, site of double-strand break, cytoplasm, nucleolus organizer region, nucleolus, nucleoplasm, nucleus, nucleus, chromatin, GO:0106231, GO:0097372, GO:0097372, GO:0070403, GO:0061697, GO:0046872, GO:0036055, GO:0034979, GO:0019213, GO:0005515, GO:0004407, GO:0003714, GO:0003682, protein-propionyllysine depropionylase activity, NAD-dependent histone deacetylase activity (H3-K18 specific), NAD-dependent histone deacetylase activity (H3-K18 specific), NAD+ binding, protein-glutaryllysine deglutarylase activity, metal ion binding, protein-succinyllysine desuccinylase activity, NAD-dependent protein deacetylase activity, deacetylase activity, protein binding, histone deacetylase activity, transcription corepressor activity, chromatin binding, GO:2001032, GO:2000234, GO:1990258, GO:1901836, GO:0106230, GO:0070933, GO:0070932, GO:0070932, GO:0062176, GO:0061699, GO:0061698, GO:0046825, GO:0045944, GO:0036049, GO:0031397, GO:0016570, GO:0010821, GO:0010821, GO:0010529, GO:0009303, GO:0007129, GO:0007072, GO:0006974, GO:0006476, GO:0006282, GO:0006281, GO:0006111, GO:0001649, GO:0000122, GO:0000122, regulation of double-strand break repair via nonhomologous end joining, positive regulation of rRNA processing, histone glutamine methylation, regulation of transcription of nucleolar large rRNA by RNA polymerase I, protein depropionylation, histone H4 deacetylation, histone H3 deacetylation, histone H3 deacetylation, R-loop disassembly, peptidyl-lysine deglutarylation, protein deglutarylation, regulation of protein export from nucleus, positive regulation of transcription by RNA polymerase II, peptidyl-lysine desuccinylation, negative regulation of protein ubiquitination, histone modification, regulation of mitochondrion organization, regulation of mitochondrion organization, negative regulation of transposition, rRNA transcription, homologous chromosome pairing at meiosis, positive regulation of transcription involved in exit from mitosis, cellular response to DNA damage stimulus, protein deacetylation, regulation of DNA repair, DNA repair, regulation of gluconeogenesis, osteoblast differentiation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 927 821 1126 878 1012 1015 987 770 897 ENSG00000187533 chr4 70133616 70176799 + PRR27 protein_coding 401137 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000187534 chr19 39943239 39943680 - PRR13P5 processed_pseudogene 61 83 94 20 68 41 31 38 48 ENSG00000187535 chr16 1510427 1612110 - IFT140 protein_coding This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]. 9742 GO:0097542, GO:0036064, GO:0036064, GO:0032391, GO:0030991, GO:0030991, GO:0005930, GO:0005930, GO:0005929, GO:0005929, GO:0005814, GO:0005813, GO:0001750, ciliary tip, ciliary basal body, ciliary basal body, photoreceptor connecting cilium, intraciliary transport particle A, intraciliary transport particle A, axoneme, axoneme, cilium, cilium, centriole, centrosome, photoreceptor outer segment, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1990403, GO:1905515, GO:1902017, GO:0061512, GO:0060271, GO:0048701, GO:0042733, GO:0042073, GO:0035845, GO:0035735, GO:0035721, GO:0035721, GO:0031076, GO:0021532, GO:0008589, GO:0007507, GO:0007368, embryonic brain development, non-motile cilium assembly, regulation of cilium assembly, protein localization to cilium, cilium assembly, embryonic cranial skeleton morphogenesis, embryonic digit morphogenesis, intraciliary transport, photoreceptor cell outer segment organization, intraciliary transport involved in cilium assembly, intraciliary retrograde transport, intraciliary retrograde transport, embryonic camera-type eye development, neural tube patterning, regulation of smoothened signaling pathway, heart development, determination of left/right symmetry, 4 8 7 16 9 8 8 3 2 ENSG00000187536 chr2 25809925 25810656 - TPM3P7 processed_pseudogene 1 0 1 1 0 0 2 0 0 ENSG00000187537 chr14 19402486 19434341 - POTEG protein_coding 404785 0 0 0 0 0 0 0 0 0 ENSG00000187545 chr1 12892896 12898270 - PRAMEF10 protein_coding 343071 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000187546 chr7 15200318 15562015 - AGMO protein_coding The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]. 392636 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0050479, GO:0050479, GO:0050479, GO:0005515, GO:0005506, glyceryl-ether monooxygenase activity, glyceryl-ether monooxygenase activity, glyceryl-ether monooxygenase activity, protein binding, iron ion binding, GO:0055114, GO:0046485, GO:0019432, GO:0006643, GO:0006643, oxidation-reduction process, ether lipid metabolic process, triglyceride biosynthetic process, membrane lipid metabolic process, membrane lipid metabolic process, 7 4 10 1 14 7 6 11 4 ENSG00000187550 chr19 55529733 55537089 - SBK2 protein_coding 646643 GO:0106311, GO:0106310, GO:0005524, GO:0004708, protein threonine kinase activity, protein serine kinase activity, ATP binding, MAP kinase kinase activity, GO:0000187, GO:0000165, activation of MAPK activity, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000187553 chr10 93060808 93069536 + CYP26C1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]. 340665 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0020037, GO:0016491, GO:0008401, GO:0008401, GO:0005506, GO:0004497, GO:0001972, heme binding, oxidoreductase activity, retinoic acid 4-hydroxylase activity, retinoic acid 4-hydroxylase activity, iron ion binding, monooxygenase activity, retinoic acid binding, GO:0055114, GO:0055114, GO:0048387, GO:0048284, GO:0034653, GO:0016125, GO:0014032, GO:0009952, GO:0007417, GO:0006766, oxidation-reduction process, oxidation-reduction process, negative regulation of retinoic acid receptor signaling pathway, organelle fusion, retinoic acid catabolic process, sterol metabolic process, neural crest cell development, anterior/posterior pattern specification, central nervous system development, vitamin metabolic process, 0 0 0 0 2 8 0 0 3 ENSG00000187554 chr1 223109406 223143282 - TLR5 protein_coding This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]. 7100 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0005149, GO:0004888, signaling receptor activity, protein binding, interleukin-1 receptor binding, transmembrane signaling receptor activity, GO:0071260, GO:0045087, GO:0042742, GO:0034146, GO:0034123, GO:0032757, GO:0006954, GO:0002755, GO:0002224, GO:0001817, cellular response to mechanical stimulus, innate immune response, defense response to bacterium, toll-like receptor 5 signaling pathway, positive regulation of toll-like receptor signaling pathway, positive regulation of interleukin-8 production, inflammatory response, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of cytokine production, 229 100 201 128 99 169 155 46 137 ENSG00000187555 chr16 8892094 8964514 - USP7 protein_coding The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]. 7874 GO:0032991, GO:0016605, GO:0016604, GO:0005829, GO:0005829, GO:0005829, GO:0005694, GO:0005654, GO:0005634, GO:0005634, GO:0005634, protein-containing complex, PML body, nuclear body, cytosol, cytosol, cytosol, chromosome, nucleoplasm, nucleus, nucleus, nucleus, GO:1990380, GO:0101005, GO:0031625, GO:0008134, GO:0008022, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004843, GO:0004197, GO:0004197, GO:0002039, Lys48-specific deubiquitinase activity, ubiquitinyl hydrolase activity, ubiquitin protein ligase binding, transcription factor binding, protein C-terminus binding, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, cysteine-type endopeptidase activity, p53 binding, GO:1904353, GO:1901537, GO:0071108, GO:0070536, GO:0051090, GO:0050821, GO:0050821, GO:0048511, GO:0042752, GO:0035616, GO:0035520, GO:0032435, GO:0032088, GO:0031647, GO:0031647, GO:0016579, GO:0016579, GO:0016579, GO:0016579, GO:0016567, GO:0016032, GO:0010216, GO:0007275, GO:0006511, GO:0006283, GO:0006283, GO:0006111, regulation of telomere capping, positive regulation of DNA demethylation, protein K48-linked deubiquitination, protein K63-linked deubiquitination, regulation of DNA-binding transcription factor activity, protein stabilization, protein stabilization, rhythmic process, regulation of circadian rhythm, histone H2B conserved C-terminal lysine deubiquitination, monoubiquitinated protein deubiquitination, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of NF-kappaB transcription factor activity, regulation of protein stability, regulation of protein stability, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein deubiquitination, protein ubiquitination, viral process, maintenance of DNA methylation, multicellular organism development, ubiquitin-dependent protein catabolic process, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, regulation of gluconeogenesis, 2041 1768 3115 1300 1408 1667 1386 1088 1216 ENSG00000187556 chr19 13862063 13880757 + NANOS3 protein_coding 342977 GO:0048471, GO:0048471, GO:0010494, GO:0005737, GO:0005634, GO:0000932, perinuclear region of cytoplasm, perinuclear region of cytoplasm, cytoplasmic stress granule, cytoplasm, nucleus, P-body, GO:0008270, GO:0005515, GO:0003729, GO:0003723, zinc ion binding, protein binding, mRNA binding, RNA binding, GO:2001234, GO:1900153, GO:0051726, GO:0048477, GO:0017148, GO:0017148, GO:0007283, GO:0007281, GO:0007275, GO:0006417, negative regulation of apoptotic signaling pathway, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, regulation of cell cycle, oogenesis, negative regulation of translation, negative regulation of translation, spermatogenesis, germ cell development, multicellular organism development, regulation of translation, 1 2 7 4 3 4 0 3 4 ENSG00000187559 chr9 68302867 68304905 + FOXD4L3 protein_coding 286380 GO:0000785, GO:0000785, chromatin, chromatin, GO:0043565, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 2 0 0 2 0 0 ENSG00000187566 chr6 18120440 18122687 - NHLRC1 protein_coding The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]. 378884 GO:0048471, GO:0005829, GO:0005783, GO:0005634, GO:0005634, perinuclear region of cytoplasm, cytosol, endoplasmic reticulum, nucleus, nucleus, GO:0061630, GO:0046872, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:1903076, GO:0045859, GO:0043161, GO:0043161, GO:0034976, GO:0031398, GO:0010468, GO:0006914, GO:0005978, GO:0000209, GO:0000209, regulation of protein localization to plasma membrane, regulation of protein kinase activity, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, response to endoplasmic reticulum stress, positive regulation of protein ubiquitination, regulation of gene expression, autophagy, glycogen biosynthetic process, protein polyubiquitination, protein polyubiquitination, 0 0 2 34 41 76 31 42 59 ENSG00000187569 chr12 7711454 7717559 + DPPA3 protein_coding This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008]. 359787 GO:0005737, GO:0005634, GO:0005634, GO:0001940, GO:0001939, cytoplasm, nucleus, nucleus, male pronucleus, female pronucleus, GO:0035064, GO:0035064, GO:0005515, methylated histone binding, methylated histone binding, protein binding, GO:2000653, GO:2000653, GO:1901536, GO:1901536, GO:0044726, GO:0044726, GO:0006325, regulation of genetic imprinting, regulation of genetic imprinting, negative regulation of DNA demethylation, negative regulation of DNA demethylation, protection of DNA demethylation of female pronucleus, protection of DNA demethylation of female pronucleus, chromatin organization, 0 3 0 0 0 0 0 1 3 ENSG00000187581 chr14 93347191 93348356 + COX8C protein_coding 341947 GO:0045277, GO:0016021, GO:0005743, GO:0005739, GO:0005739, respiratory chain complex IV, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0004129, cytochrome-c oxidase activity, GO:1902600, GO:0022900, GO:0006119, proton transmembrane transport, electron transport chain, oxidative phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000187583 chr1 966497 975865 + PLEKHN1 protein_coding 84069 GO:0031966, GO:0031966, GO:0005886, GO:0005856, GO:0005856, GO:0005739, mitochondrial membrane, mitochondrial membrane, plasma membrane, cytoskeleton, cytoskeleton, mitochondrion, GO:1901981, GO:1901981, GO:1901612, GO:1901612, GO:0070300, GO:0070300, GO:0005515, GO:0001786, GO:0001786, phosphatidylinositol phosphate binding, phosphatidylinositol phosphate binding, cardiolipin binding, cardiolipin binding, phosphatidic acid binding, phosphatidic acid binding, protein binding, phosphatidylserine binding, phosphatidylserine binding, GO:0061158, GO:0061158, GO:0043065, GO:0043065, GO:0001666, GO:0001666, 3'-UTR-mediated mRNA destabilization, 3'-UTR-mediated mRNA destabilization, positive regulation of apoptotic process, positive regulation of apoptotic process, response to hypoxia, response to hypoxia, 0 2 1 0 3 1 0 1 1 ENSG00000187589 chr18 14377546 14378757 - TERF1P2 processed_pseudogene 0 2 2 0 0 0 0 0 0 ENSG00000187595 chr17 42025576 42098479 - ZNF385C protein_coding 201181 GO:0005634, GO:0005634, nucleus, nucleus, GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, 2 2 1 0 3 0 1 4 0 ENSG00000187600 chr2 46429190 46441833 + LINC02583 lincRNA 101805491 0 0 0 0 0 0 0 0 0 ENSG00000187601 chrX 55452105 55453566 + MAGEH1 protein_coding This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcription 1-alpha) pathway. [provided by RefSeq, Aug 2013]. 28986 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0006915, apoptotic process, 5 12 21 25 6 16 13 2 23 ENSG00000187605 chr2 73986404 74108176 + TET3 protein_coding Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010]. 200424 GO:0005737, GO:0005694, GO:0005634, GO:0001940, GO:0001939, cytoplasm, chromosome, nucleus, male pronucleus, female pronucleus, GO:0070579, GO:0070579, GO:0008327, GO:0008270, GO:0005515, methylcytosine dioxygenase activity, methylcytosine dioxygenase activity, methyl-CpG binding, zinc ion binding, protein binding, GO:0080182, GO:0080111, GO:0080111, GO:0070989, GO:0045944, GO:0045944, GO:0044727, GO:0006493, GO:0006211, histone H3-K4 trimethylation, DNA demethylation, DNA demethylation, oxidative demethylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, DNA demethylation of male pronucleus, protein O-linked glycosylation, 5-methylcytosine catabolic process, 2053 2387 2852 1264 2066 2402 1633 1546 1985 ENSG00000187607 chr17 15699577 15720787 + ZNF286A protein_coding 57335 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 7 9 14 1 17 10 4 3 ENSG00000187608 chr1 1001138 1014540 + ISG15 protein_coding The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]. 9636 GO:0022627, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005576, cytosolic small ribosomal subunit, cytosol, cytoplasm, nucleoplasm, nucleus, extracellular region, GO:0031625, GO:0031386, GO:0005515, GO:0005178, ubiquitin protein ligase binding, protein tag, protein binding, integrin binding, GO:0060337, GO:0051607, GO:0045648, GO:0045071, GO:0042742, GO:0034340, GO:0032649, GO:0032613, GO:0032609, GO:0032480, GO:0032020, GO:0032020, GO:0032020, GO:0031397, GO:0030501, GO:0019985, GO:0019941, GO:0016567, GO:0016032, GO:0007229, type I interferon signaling pathway, defense response to virus, positive regulation of erythrocyte differentiation, negative regulation of viral genome replication, defense response to bacterium, response to type I interferon, regulation of interferon-gamma production, interleukin-10 production, interferon-gamma production, negative regulation of type I interferon production, ISG15-protein conjugation, ISG15-protein conjugation, ISG15-protein conjugation, negative regulation of protein ubiquitination, positive regulation of bone mineralization, translesion synthesis, modification-dependent protein catabolic process, protein ubiquitination, viral process, integrin-mediated signaling pathway, 353 355 556 575 673 729 657 842 807 ENSG00000187609 chr9 137306896 137423262 - EXD3 protein_coding 54932 GO:0046872, GO:0008408, GO:0005515, GO:0003676, metal ion binding, 3'-5' exonuclease activity, protein binding, nucleic acid binding, GO:0090305, nucleic acid phosphodiester bond hydrolysis, 12 18 13 19 28 28 16 16 37 ENSG00000187612 chr11 55913650 55914582 - OR5W2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390148 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000187616 chr9 133514586 133528612 - MYMK protein_coding 389827 GO:0030173, GO:0005887, GO:0005886, GO:0005886, integral component of Golgi membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1904206, GO:0045026, GO:0014905, GO:0007520, GO:0007520, GO:0007517, positive regulation of skeletal muscle hypertrophy, plasma membrane fusion, myoblast fusion involved in skeletal muscle regeneration, myoblast fusion, myoblast fusion, muscle organ development, 0 0 0 0 0 0 0 0 0 ENSG00000187621 chr14 95650498 95679833 + TCL6 processed_transcript 4 1 0 6 7 0 10 9 4 ENSG00000187624 chr17 410327 431062 + C17orf97 protein_coding 400566 GO:0016598, GO:0016598, protein arginylation, protein arginylation, 38 22 33 24 25 20 24 21 9 ENSG00000187626 chr6 28244623 28252224 - ZKSCAN4 protein_coding 387032 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0046872, GO:0042802, GO:0005515, GO:0000981, GO:0000978, metal ion binding, identical protein binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 18 28 26 38 31 41 18 20 16 ENSG00000187627 chr2 86907953 87013976 + RGPD1 protein_coding 400966 GO:0005737, GO:0005643, cytoplasm, nuclear pore, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0043547, GO:0006607, positive regulation of GTPase activity, NLS-bearing protein import into nucleus, 9 17 8 22 33 9 12 26 2 ENSG00000187630 chr14 23969874 24006408 + DHRS4L2 protein_coding This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]. 317749 GO:0005576, extracellular region, GO:0016491, oxidoreductase activity, GO:0055114, oxidation-reduction process, 5 4 9 15 7 26 6 7 12 ENSG00000187634 chr1 923928 944581 + SAMD11 protein_coding 148398 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0045892, negative regulation of transcription, DNA-templated, 6 6 5 8 12 3 4 11 10 ENSG00000187642 chr1 975204 982093 - PERM1 protein_coding 84808 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0014850, GO:0014850, GO:0006355, GO:0006355, response to muscle activity, response to muscle activity, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 0 2 0 3 0 1 0 0 0 ENSG00000187650 chr19 5904858 5910853 + VMAC protein_coding 400673 GO:0045098, GO:0005737, type III intermediate filament, cytoplasm, GO:0005515, protein binding, 28 28 67 83 46 86 85 30 42 ENSG00000187653 chr4 90838903 90839037 - TMSB4XP8 processed_pseudogene 323 326 472 163 234 340 200 335 286 ENSG00000187657 chrY 9905595 9908139 - TSPY13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187658 chr5 157671553 157680143 + C5orf52 protein_coding 100190949 0 0 0 0 0 0 0 0 0 ENSG00000187664 chr19 19255641 19262796 - HAPLN4 protein_coding 404037 GO:0031012, extracellular matrix, GO:0005540, hyaluronic acid binding, GO:0007417, GO:0007155, GO:0001501, central nervous system development, cell adhesion, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000187672 chr3 55508308 56468363 - ERC2 protein_coding This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. 26059 GO:0048786, GO:0042734, GO:0030426, GO:0005856, GO:0005737, presynaptic active zone, presynaptic membrane, growth cone, cytoskeleton, cytoplasm, GO:0098882, GO:0005515, structural constituent of presynaptic active zone, protein binding, GO:0048790, maintenance of presynaptic active zone structure, 0 0 0 0 0 0 0 0 0 ENSG00000187676 chr13 31199936 31332276 + B3GLCT protein_coding The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]. 145173 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0016757, GO:0008375, transferase activity, transferring glycosyl groups, acetylglucosaminyltransferase activity, GO:0036066, GO:0006004, protein O-linked fucosylation, fucose metabolic process, 17 8 17 22 8 17 13 19 22 ENSG00000187678 chr5 142310427 142326455 - SPRY4 protein_coding This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014]. 81848 GO:0032587, GO:0005925, GO:0005829, GO:0005737, ruffle membrane, focal adhesion, cytosol, cytoplasm, GO:0005515, GO:0004860, protein binding, protein kinase inhibitor activity, GO:1900025, GO:0070373, GO:0048513, GO:0046580, GO:0043407, GO:0040037, negative regulation of substrate adhesion-dependent cell spreading, negative regulation of ERK1 and ERK2 cascade, animal organ development, negative regulation of Ras protein signal transduction, negative regulation of MAP kinase activity, negative regulation of fibroblast growth factor receptor signaling pathway, 0 0 0 0 0 5 2 0 4 ENSG00000187682 chrX 48826513 48830138 + ERAS protein_coding This gene encodes a constitutively active member of the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem cells, but is not expressed in differentiated cells. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012]. 3266 GO:0005886, plasma membrane, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GO:0007265, Ras protein signal transduction, 0 0 0 0 1 0 0 3 0 ENSG00000187686 chr11 125113161 125126781 + KRT18P59 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187688 chr17 16415542 16437003 + TRPV2 protein_coding This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]. 51393 GO:0044297, GO:0044295, GO:0042470, GO:0032584, GO:0009986, GO:0005887, GO:0005886, GO:0005886, cell body, axonal growth cone, melanosome, growth cone membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015075, GO:0005262, GO:0005261, GO:0005216, ion transmembrane transporter activity, calcium channel activity, cation channel activity, ion channel activity, GO:0120162, GO:0098703, GO:0090280, GO:0070588, GO:0045773, GO:0009408, GO:0009266, GO:0007600, positive regulation of cold-induced thermogenesis, calcium ion import across plasma membrane, positive regulation of calcium ion import, calcium ion transmembrane transport, positive regulation of axon extension, response to heat, response to temperature stimulus, sensory perception, 113 88 191 166 109 168 110 70 112 ENSG00000187689 chr4 70518540 70532742 + AMTN protein_coding The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]. 401138 GO:0031012, GO:0005911, GO:0005911, GO:0005788, GO:0005604, GO:0005604, extracellular matrix, cell-cell junction, cell-cell junction, endoplasmic reticulum lumen, basement membrane, basement membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0070175, GO:0070169, GO:0044267, GO:0043687, GO:0042475, GO:0042475, GO:0031214, GO:0007155, positive regulation of enamel mineralization, positive regulation of biomineral tissue development, cellular protein metabolic process, post-translational protein modification, odontogenesis of dentin-containing tooth, odontogenesis of dentin-containing tooth, biomineral tissue development, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000187690 chrX 51406915 51408843 + CXorf67 protein_coding 340602 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0061086, negative regulation of histone H3-K27 methylation, 0 0 0 0 0 0 0 0 0 ENSG00000187699 chr2 189879609 190203484 + C2orf88 protein_coding 84281 GO:0005886, plasma membrane, GO:0034237, GO:0005515, protein kinase A regulatory subunit binding, protein binding, 4 11 19 21 7 38 20 4 13 ENSG00000187701 chr1 248649838 248655528 - OR2T27 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403239 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000187713 chr9 137204082 137205638 - TMEM203 protein_coding 94107 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, protein binding, GO:0007283, GO:0006874, GO:0006874, spermatogenesis, cellular calcium ion homeostasis, cellular calcium ion homeostasis, 63 23 58 12 35 27 19 21 33 ENSG00000187714 chr10 49610301 49612720 + SLC18A3 protein_coding This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]. 6572 GO:0060201, GO:0043195, GO:0030665, GO:0030122, GO:0030121, GO:0016021, GO:0005886, clathrin-sculpted acetylcholine transport vesicle membrane, terminal bouton, clathrin-coated vesicle membrane, AP-2 adaptor complex, AP-1 adaptor complex, integral component of membrane, plasma membrane, GO:0022857, GO:0005515, GO:0005277, GO:0005277, transmembrane transporter activity, protein binding, acetylcholine transmembrane transporter activity, acetylcholine transmembrane transporter activity, GO:1901374, GO:0061024, GO:0055085, GO:0015695, GO:0007269, GO:0007268, acetate ester transport, membrane organization, transmembrane transport, organic cation transport, neurotransmitter secretion, chemical synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000187715 chr3 127915232 127987671 + KBTBD12 protein_coding 166348 0 0 0 0 0 0 0 0 0 ENSG00000187720 chr15 71096952 71783383 + THSD4 protein_coding 79875 GO:0070062, GO:0062023, GO:0031012, GO:0001527, extracellular exosome, collagen-containing extracellular matrix, extracellular matrix, microfibril, GO:0005201, GO:0004222, extracellular matrix structural constituent, metalloendopeptidase activity, GO:0048251, GO:0030198, GO:0006508, elastic fiber assembly, extracellular matrix organization, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000187721 chr13 19026001 19032626 - GTF2IP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187726 chr11 73950319 73970366 + DNAJB13 protein_coding This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017]. 374407 GO:0097224, GO:0036126, GO:0031514, GO:0005930, GO:0005829, sperm connecting piece, sperm flagellum, motile cilium, axoneme, cytosol, GO:0051087, GO:0051082, GO:0005515, chaperone binding, unfolded protein binding, protein binding, GO:1904158, GO:0051085, axonemal central apparatus assembly, chaperone cofactor-dependent protein refolding, 11 18 14 53 41 70 45 30 41 ENSG00000187730 chr1 2019298 2030758 + GABRD protein_coding Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 2563 GO:1902711, GO:0099055, GO:0098982, GO:0045202, GO:0043025, GO:0043005, GO:0034707, GO:0030425, GO:0030424, GO:0005887, GABA-A receptor complex, integral component of postsynaptic membrane, GABA-ergic synapse, synapse, neuronal cell body, neuron projection, chloride channel complex, dendrite, axon, integral component of plasma membrane, GO:1904315, GO:0030594, GO:0005515, GO:0005254, GO:0004890, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, neurotransmitter receptor activity, protein binding, chloride channel activity, GABA-A receptor activity, GO:1902476, GO:0060078, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007165, chloride transmembrane transport, regulation of postsynaptic membrane potential, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000187733 chr1 103750406 103758690 + AMY1C protein_coding Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008]. 278 GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, GO:0103025, GO:0046872, GO:0031404, GO:0005515, GO:0005509, GO:0004556, GO:0004556, alpha-amylase activity (releasing maltohexaose), metal ion binding, chloride ion binding, protein binding, calcium ion binding, alpha-amylase activity, alpha-amylase activity, GO:0009311, GO:0005975, oligosaccharide metabolic process, carbohydrate metabolic process, 6 0 0 2 6 3 1 1 0 ENSG00000187735 chr8 53966552 54022529 - TCEA1 protein_coding 6917 GO:0005730, GO:0005669, GO:0005654, GO:0005654, nucleolus, transcription factor TFIID complex, nucleoplasm, nucleoplasm, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:1901919, GO:0045944, GO:0006368, GO:0006366, GO:0006283, positive regulation of exoribonuclease activity, positive regulation of transcription by RNA polymerase II, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription-coupled nucleotide-excision repair, 169 129 223 192 138 174 186 137 134 ENSG00000187736 chr2 219075317 219160865 - NHEJ1 protein_coding Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]. 79840 GO:0070419, GO:0070419, GO:0032807, GO:0005654, GO:0005654, GO:0005634, GO:0001650, nonhomologous end joining complex, nonhomologous end joining complex, DNA ligase IV complex, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:0045027, GO:0005515, DNA end binding, protein binding, GO:0051351, GO:0030217, GO:0030183, GO:0010212, GO:0007417, GO:0006303, GO:0006303, GO:0006303, positive regulation of ligase activity, T cell differentiation, B cell differentiation, response to ionizing radiation, central nervous system development, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, 1 0 0 4 1 3 0 2 0 ENSG00000187741 chr16 89737549 89816657 - FANCA protein_coding The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]. 2175 GO:0043240, GO:0043240, GO:0005737, GO:0005654, GO:0005654, GO:0005634, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:2000348, GO:0065003, GO:0051090, GO:0050727, GO:0045589, GO:0042127, GO:0036297, GO:0008585, GO:0008584, GO:0007140, GO:0006281, regulation of CD40 signaling pathway, protein-containing complex assembly, regulation of DNA-binding transcription factor activity, regulation of inflammatory response, regulation of regulatory T cell differentiation, regulation of cell population proliferation, interstrand cross-link repair, female gonad development, male gonad development, male meiotic nuclear division, DNA repair, 1594 1220 1955 900 1025 1426 1041 847 1127 ENSG00000187742 chr9 89318506 89359662 + SECISBP2 protein_coding The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon, which normally signals translation termination. The recoding of UGA as Sec codon requires a Sec insertion sequence (SECIS) element; present in the 3' untranslated regions of eukaryotic selenoprotein mRNAs. This protein specifically binds to the SECIS element, which is stimulated by a Sec-specific translation elongation factor. Mutations in this gene have been associated with reduction in enzymatic activity of type II iodothyronine deiodinase (a selenoprotein) and abnormal thyroid hormone metabolism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]. 79048 GO:1990904, GO:0005739, GO:0005634, ribonucleoprotein complex, mitochondrion, nucleus, GO:0043021, GO:0035368, GO:0005515, GO:0003730, GO:0003730, GO:0003723, ribonucleoprotein complex binding, selenocysteine insertion sequence binding, protein binding, mRNA 3'-UTR binding, mRNA 3'-UTR binding, RNA binding, GO:2000623, GO:0048666, GO:0021756, GO:0001514, negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, neuron development, striatum development, selenocysteine incorporation, 1054 1074 1414 817 792 985 913 689 741 ENSG00000187747 chr11 5580877 5581884 + OR52B6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 340980 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 4 0 0 0 0 0 0 0 ENSG00000187753 chr9 86220265 86259657 - C9orf153 protein_coding 389766 1 0 1 0 1 0 0 0 0 ENSG00000187754 chrX 52644090 52654900 - SSX7 protein_coding The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq, Jul 2008]. 280658 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000187758 chr4 99276367 99291028 - ADH1A protein_coding This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]. 124 GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005654, plasma membrane, cytosol, cytosol, cytosol, nucleoplasm, GO:0008270, GO:0005515, GO:0004745, GO:0004024, GO:0004024, zinc ion binding, protein binding, retinol dehydrogenase activity, alcohol dehydrogenase activity, zinc-dependent, alcohol dehydrogenase activity, zinc-dependent, GO:0042573, GO:0042572, GO:0017144, GO:0006069, GO:0006069, GO:0006066, retinoic acid metabolic process, retinol metabolic process, drug metabolic process, ethanol oxidation, ethanol oxidation, alcohol metabolic process, 0 0 0 0 0 0 0 1 0 ENSG00000187762 chr6 35023522 35023831 + HSPE1P11 processed_pseudogene 0 8 7 7 5 2 7 8 9 ENSG00000187763 chr6 28046434 28047367 + OR2B7P unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000187764 chr9 89360787 89498130 - SEMA4D protein_coding 10507 GO:0005887, GO:0005887, GO:0005886, GO:0005615, GO:0005615, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, extracellular space, GO:0045499, GO:0038023, GO:0030215, GO:0030215, GO:0030215, GO:0005515, GO:0005102, GO:0004888, chemorepellent activity, signaling receptor activity, semaphorin receptor binding, semaphorin receptor binding, semaphorin receptor binding, protein binding, signaling receptor binding, transmembrane signaling receptor activity, GO:1905704, GO:1900220, GO:0071526, GO:0071526, GO:0071526, GO:0070486, GO:0050919, GO:0050732, GO:0050731, GO:0048843, GO:0048814, GO:0048672, GO:0045668, GO:0043931, GO:0043931, GO:0043547, GO:0043547, GO:0043547, GO:0043066, GO:0031344, GO:0030335, GO:0030335, GO:0030335, GO:0014068, GO:0010693, GO:0010693, GO:0008360, GO:0007411, GO:0007162, GO:0007155, GO:0006955, GO:0001934, GO:0001755, GO:0000122, GO:0000122, positive regulation of inhibitory synapse assembly, semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis, semaphorin-plexin signaling pathway, semaphorin-plexin signaling pathway, semaphorin-plexin signaling pathway, leukocyte aggregation, negative chemotaxis, negative regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, negative regulation of axon extension involved in axon guidance, regulation of dendrite morphogenesis, positive regulation of collateral sprouting, negative regulation of osteoblast differentiation, ossification involved in bone maturation, ossification involved in bone maturation, positive regulation of GTPase activity, positive regulation of GTPase activity, positive regulation of GTPase activity, negative regulation of apoptotic process, regulation of cell projection organization, positive regulation of cell migration, positive regulation of cell migration, positive regulation of cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of alkaline phosphatase activity, negative regulation of alkaline phosphatase activity, regulation of cell shape, axon guidance, negative regulation of cell adhesion, cell adhesion, immune response, positive regulation of protein phosphorylation, neural crest cell migration, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 5555 6783 7712 4227 7164 5667 4589 4874 4709 ENSG00000187766 chr21 44612079 44612954 + KRTAP10-8 protein_coding 386681 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000187772 chr6 104936616 105083332 + LIN28B protein_coding The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012]. 389421 GO:0005829, GO:0005730, GO:0005654, cytosol, nucleolus, nucleoplasm, GO:1990837, GO:0008270, GO:0005515, GO:0003723, GO:0003723, sequence-specific double-stranded DNA binding, zinc ion binding, protein binding, RNA binding, RNA binding, GO:2000635, GO:2000632, GO:2000627, GO:0050779, GO:0031123, GO:0031054, GO:0010587, negative regulation of primary miRNA processing, negative regulation of pre-miRNA processing, positive regulation of miRNA catabolic process, RNA destabilization, RNA 3'-end processing, pre-miRNA processing, miRNA catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000187773 chr18 74434099 74457944 - FAM69C protein_coding This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]. 125704 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, 0 0 0 0 0 0 0 0 0 ENSG00000187775 chr17 78423697 78577394 - DNAH17 protein_coding Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]. 8632 GO:0036157, GO:0036126, GO:0031514, GO:0030286, GO:0005930, GO:0005930, GO:0005874, GO:0005858, outer dynein arm, sperm flagellum, motile cilium, dynein complex, axoneme, axoneme, microtubule, axonemal dynein complex, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0003777, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, microtubule motor activity, GO:0060285, GO:0036158, GO:0007018, GO:0003341, cilium-dependent cell motility, outer dynein arm assembly, microtubule-based movement, cilium movement, 430 542 550 499 672 725 606 447 597 ENSG00000187778 chr12 49556544 49568153 - MCRS1 protein_coding 10445 GO:0071339, GO:0044545, GO:0043204, GO:0031011, GO:0030425, GO:0005844, GO:0005783, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000123, MLL1 complex, NSL complex, perikaryon, Ino80 complex, dendrite, polysome, endoplasmic reticulum, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, histone acetyltransferase complex, GO:0046972, GO:0046972, GO:0043996, GO:0043996, GO:0043995, GO:0043995, GO:0034046, GO:0008266, GO:0005515, GO:0002151, histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), histone acetyltransferase activity (H4-K5 specific), poly(G) binding, poly(U) RNA binding, protein binding, G-quadruplex RNA binding, GO:1904751, GO:0045944, GO:0043984, GO:0043982, GO:0043981, GO:0016579, GO:0016032, GO:0006464, GO:0006310, GO:0006281, positive regulation of protein localization to nucleolus, positive regulation of transcription by RNA polymerase II, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, protein deubiquitination, viral process, cellular protein modification process, DNA recombination, DNA repair, 219 244 227 175 235 208 149 188 160 ENSG00000187783 chr10 44911200 44937002 + TMEM72 protein_coding This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]. 643236 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000187790 chr14 45135940 45200890 + FANCM protein_coding The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 57697 GO:0071821, GO:0043240, GO:0005654, GO:0005654, FANCM-MHF complex, Fanconi anaemia nuclear complex, nucleoplasm, nucleoplasm, GO:0043138, GO:0009378, GO:0005524, GO:0005515, GO:0004518, GO:0003724, GO:0003682, GO:0000400, 3'-5' DNA helicase activity, four-way junction helicase activity, ATP binding, protein binding, nuclease activity, RNA helicase activity, chromatin binding, four-way junction DNA binding, GO:1902527, GO:0090305, GO:0071932, GO:0045003, GO:0036297, GO:0036297, GO:0032508, GO:0031297, GO:0000712, positive regulation of protein monoubiquitination, nucleic acid phosphodiester bond hydrolysis, replication fork reversal, double-strand break repair via synthesis-dependent strand annealing, interstrand cross-link repair, interstrand cross-link repair, DNA duplex unwinding, replication fork processing, resolution of meiotic recombination intermediates, 21 39 36 19 34 26 39 19 32 ENSG00000187791 chr9 34889064 34895778 - FAM205C protein_coding 100129969 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000187792 chr22 23738678 23751092 - ZNF70 protein_coding 7621 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 3 13 9 11 10 15 11 14 9 ENSG00000187796 chr9 136361903 136373681 - CARD9 protein_coding The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]. 64170 GO:0032991, GO:0005886, GO:0005829, GO:0005737, GO:0005737, protein-containing complex, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0050700, GO:0050700, GO:0042803, GO:0005515, CARD domain binding, CARD domain binding, protein homodimerization activity, protein binding, GO:0051607, GO:0050830, GO:0046330, GO:0045087, GO:0043330, GO:0043280, GO:0043123, GO:0043123, GO:0042493, GO:0032874, GO:0032760, GO:0032755, GO:0032663, GO:0032495, GO:0032494, GO:0009620, GO:0007249, GO:0002223, defense response to virus, defense response to Gram-positive bacterium, positive regulation of JNK cascade, innate immune response, response to exogenous dsRNA, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, response to drug, positive regulation of stress-activated MAPK cascade, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, regulation of interleukin-2 production, response to muramyl dipeptide, response to peptidoglycan, response to fungus, I-kappaB kinase/NF-kappaB signaling, stimulatory C-type lectin receptor signaling pathway, 13 55 61 27 87 103 33 61 53 ENSG00000187800 chr1 156893698 156916434 + PEAR1 protein_coding PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]. 375033 GO:0016021, GO:0016020, GO:0001891, integral component of membrane, membrane, phagocytic cup, GO:0005515, protein binding, 2 1 3 0 5 0 1 0 2 ENSG00000187801 chr1 40450102 40463718 + ZFP69B protein_coding 65243 GO:0005730, GO:0005634, GO:0000785, nucleolus, nucleus, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0007030, GO:0006357, GO:0000122, Golgi organization, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 20 9 10 28 22 25 14 16 23 ENSG00000187806 chr15 72398273 72408029 + TMEM202 protein_coding 338949 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000187808 chrX 119758613 119760164 + SOWAHD protein_coding 347454 172 68 131 9 26 14 19 24 23 ENSG00000187812 chr15 75775553 75786898 + AC019294.1 transcribed_unprocessed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000187815 chr1 40477215 40496343 + ZFP69 protein_coding 339559 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0019216, GO:0006629, GO:0006357, GO:0000122, regulation of lipid metabolic process, lipid metabolic process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 4 8 13 13 14 7 5 13 ENSG00000187821 chr4 185018841 185020804 + HELT protein_coding 391723 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:0046983, GO:0001227, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050767, GO:0045944, GO:0035264, GO:0021858, GO:0010467, GO:0010259, GO:0009952, GO:0009791, GO:0007417, GO:0006357, GO:0001967, GO:0000122, regulation of neurogenesis, positive regulation of transcription by RNA polymerase II, multicellular organism growth, GABAergic neuron differentiation in basal ganglia, gene expression, multicellular organism aging, anterior/posterior pattern specification, post-embryonic development, central nervous system development, regulation of transcription by RNA polymerase II, suckling behavior, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000187823 chrX 112454500 112457112 + RTL4 protein_coding 340595 GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, GO:0050890, GO:0042415, cognition, norepinephrine metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000187824 chr17 10699015 10730316 - TMEM220 protein_coding 388335 GO:0016021, integral component of membrane, GO:0005515, protein binding, 17 16 19 10 16 18 9 18 31 ENSG00000187833 chr2 73784189 73817147 + C2orf78 protein_coding 388960 1 0 0 0 0 0 0 0 0 ENSG00000187837 chr6 26055787 26056428 - HIST1H1C protein_coding Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 3006 GO:0035327, GO:0005634, GO:0005634, GO:0000791, GO:0000791, GO:0000786, transcriptionally active chromatin, nucleus, nucleus, euchromatin, euchromatin, nucleosome, GO:0031492, GO:0031490, GO:0005515, GO:0003723, GO:0003690, nucleosomal DNA binding, chromatin DNA binding, protein binding, RNA binding, double-stranded DNA binding, GO:0098532, GO:0080182, GO:0045910, GO:0031936, GO:0030261, GO:0016584, GO:0006334, GO:0000122, histone H3-K27 trimethylation, histone H3-K4 trimethylation, negative regulation of DNA recombination, negative regulation of chromatin silencing, chromosome condensation, nucleosome positioning, nucleosome assembly, negative regulation of transcription by RNA polymerase II, 1010 1636 1665 236 1009 575 309 1187 622 ENSG00000187838 chr17 7389727 7394843 - PLSCR3 protein_coding 57048 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005743, GO:0005739, GO:0005634, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, mitochondrial inner membrane, mitochondrion, nucleus, GO:0048306, GO:0045340, GO:0043621, GO:0032791, GO:0017128, GO:0017128, GO:0017128, GO:0017124, GO:0005515, GO:0005509, GO:0005509, GO:0000287, calcium-dependent protein binding, mercury ion binding, protein self-association, lead ion binding, phospholipid scramblase activity, phospholipid scramblase activity, phospholipid scramblase activity, SH3 domain binding, protein binding, calcium ion binding, calcium ion binding, magnesium ion binding, GO:0090199, GO:0071222, GO:0042981, GO:0042632, GO:0042593, GO:0032049, GO:0017121, GO:0017121, GO:0006915, regulation of release of cytochrome c from mitochondria, cellular response to lipopolysaccharide, regulation of apoptotic process, cholesterol homeostasis, glucose homeostasis, cardiolipin biosynthetic process, plasma membrane phospholipid scrambling, plasma membrane phospholipid scrambling, apoptotic process, 0 1 0 0 0 0 0 0 0 ENSG00000187840 chr8 38030341 38060365 + EIF4EBP1 protein_coding This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008]. 1978 GO:0099524, GO:0098978, GO:0032991, GO:0005829, GO:0005829, GO:0005737, GO:0005634, postsynaptic cytosol, glutamatergic synapse, protein-containing complex, cytosol, cytosol, cytoplasm, nucleus, GO:0051721, GO:0030371, GO:0008190, GO:0008190, GO:0005515, protein phosphatase 2A binding, translation repressor activity, eukaryotic initiation factor 4E binding, eukaryotic initiation factor 4E binding, protein binding, GO:1990928, GO:0071549, GO:0071456, GO:0045947, GO:0045947, GO:0045931, GO:0045471, GO:0031929, GO:0031333, GO:0030324, GO:0008286, GO:0002931, GO:0002192, GO:0000082, response to amino acid starvation, cellular response to dexamethasone stimulus, cellular response to hypoxia, negative regulation of translational initiation, negative regulation of translational initiation, positive regulation of mitotic cell cycle, response to ethanol, TOR signaling, negative regulation of protein-containing complex assembly, lung development, insulin receptor signaling pathway, response to ischemia, IRES-dependent translational initiation of linear mRNA, G1/S transition of mitotic cell cycle, 30 25 21 6 11 5 12 18 14 ENSG00000187847 chr19 9198354 9210067 + OR7E25P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187848 chr12 132618776 132622386 + P2RX2 protein_coding The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]. 22953 GO:0098794, GO:0043235, GO:0043025, GO:0016324, GO:0005887, GO:0005886, GO:0005639, postsynapse, receptor complex, neuronal cell body, apical plasma membrane, integral component of plasma membrane, plasma membrane, integral component of nuclear inner membrane, GO:0042802, GO:0015276, GO:0005524, GO:0004931, GO:0004931, GO:0004931, GO:0001614, identical protein binding, ligand-gated ion channel activity, ATP binding, extracellularly ATP-gated cation channel activity, extracellularly ATP-gated cation channel activity, extracellularly ATP-gated cation channel activity, purinergic nucleotide receptor activity, GO:0098655, GO:0060079, GO:0050909, GO:0050850, GO:0048741, GO:0048266, GO:0035590, GO:0033198, GO:0030432, GO:0014832, GO:0010524, GO:0009743, GO:0007605, GO:0007596, GO:0007528, GO:0007274, GO:0003029, GO:0002931, GO:0001666, cation transmembrane transport, excitatory postsynaptic potential, sensory perception of taste, positive regulation of calcium-mediated signaling, skeletal muscle fiber development, behavioral response to pain, purinergic nucleotide receptor signaling pathway, response to ATP, peristalsis, urinary bladder smooth muscle contraction, positive regulation of calcium ion transport into cytosol, response to carbohydrate, sensory perception of sound, blood coagulation, neuromuscular junction development, neuromuscular synaptic transmission, detection of hypoxic conditions in blood by carotid body chemoreceptor signaling, response to ischemia, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000187855 chr12 107774385 107776644 + ASCL4 protein_coding Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]. 121549 GO:0090575, GO:0005575, GO:0000785, RNA polymerase II transcription regulator complex, cellular_component, chromatin, GO:0046983, GO:0005515, GO:0000981, GO:0000981, GO:0000977, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0043588, GO:0006357, GO:0006357, skin development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000187857 chr12 55362975 55369279 + OR6C75 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390323 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000187860 chr22 30356635 30378658 + CCDC157 protein_coding 550631 GO:0005515, protein binding, 267 310 374 132 184 127 147 117 185 ENSG00000187862 chr1 156579727 156586770 + TTC24 protein_coding 164118 3 2 7 19 5 19 2 4 23 ENSG00000187866 chr9 68780034 68784608 + FAM122A protein_coding 116224 GO:0005515, GO:0004865, protein binding, protein serine/threonine phosphatase inhibitor activity, GO:0032515, GO:0032436, GO:0030307, negative regulation of phosphoprotein phosphatase activity, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of cell growth, 140 121 139 59 138 149 71 96 81 ENSG00000187867 chr19 14053365 14059159 - PALM3 protein_coding 342979 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0032496, GO:0032496, GO:0008063, GO:0008063, GO:0001960, GO:0001960, response to lipopolysaccharide, response to lipopolysaccharide, Toll signaling pathway, Toll signaling pathway, negative regulation of cytokine-mediated signaling pathway, negative regulation of cytokine-mediated signaling pathway, 0 0 2 0 0 0 0 0 0 ENSG00000187870 chr17 20743333 20754501 - RNFT1P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187871 chr6 55327469 55402493 + GFRAL protein_coding 389400 GO:0043235, GO:0016021, GO:0009897, GO:0009897, receptor complex, integral component of membrane, external side of plasma membrane, external side of plasma membrane, GO:0038023, GO:0030971, GO:0016167, GO:0005515, signaling receptor activity, receptor tyrosine kinase binding, glial cell-derived neurotrophic factor receptor activity, protein binding, GO:2001240, GO:0051897, GO:0043524, GO:0043410, GO:0035860, GO:0031098, GO:0007399, GO:0002023, GO:0000187, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of protein kinase B signaling, negative regulation of neuron apoptotic process, positive regulation of MAPK cascade, glial cell-derived neurotrophic factor receptor signaling pathway, stress-activated protein kinase signaling cascade, nervous system development, reduction of food intake in response to dietary excess, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000187889 chr1 56718804 56819696 - FYB2 protein_coding 199920 GO:0045121, GO:0005886, GO:0001772, membrane raft, plasma membrane, immunological synapse, GO:0005515, protein binding, GO:0072659, GO:0050852, GO:0050852, GO:0033627, GO:0007229, protein localization to plasma membrane, T cell receptor signaling pathway, T cell receptor signaling pathway, cell adhesion mediated by integrin, integrin-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000187893 chrX 47707191 47753456 + CXXC1P1 transcribed_unprocessed_pseudogene 392459 0 0 0 0 0 0 0 0 0 ENSG00000187900 chr3 98238352 98239281 + OR5H7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000187902 chr19 55428740 55442863 - SHISA7 protein_coding 729956 GO:0099060, GO:0098985, GO:0098985, GO:0098978, GO:0098839, GO:0045211, GO:0032591, GO:0032281, GO:0032281, GO:0014069, GO:0014069, integral component of postsynaptic specialization membrane, asymmetric, glutamatergic, excitatory synapse, asymmetric, glutamatergic, excitatory synapse, glutamatergic synapse, postsynaptic density membrane, postsynaptic membrane, dendritic spine membrane, AMPA glutamate receptor complex, AMPA glutamate receptor complex, postsynaptic density, postsynaptic density, GO:0050811, GO:0035255, GO:0035255, GABA receptor binding, ionotropic glutamate receptor binding, ionotropic glutamate receptor binding, GO:2000311, GO:2000311, GO:1904717, GO:1900273, GO:0106040, GO:0098962, GO:0097112, GO:0048172, GO:0007613, GO:0007214, regulation of AMPA receptor activity, regulation of AMPA receptor activity, regulation of AMPA glutamate receptor clustering, positive regulation of long-term synaptic potentiation, regulation of GABA-A receptor activity, regulation of postsynaptic neurotransmitter receptor activity, gamma-aminobutyric acid receptor clustering, regulation of short-term neuronal synaptic plasticity, memory, gamma-aminobutyric acid signaling pathway, 2 0 0 0 0 4 0 0 6 ENSG00000187904 chr4 6995341 6998958 + AC097382.1 sense_overlapping 2 3 2 6 8 18 11 4 1 ENSG00000187905 chr22 21045960 21064168 + LRRC74B protein_coding 400891 0 0 0 0 0 0 0 0 0 ENSG00000187908 chr10 122560665 122643736 + DMBT1 protein_coding Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]. 1755 GO:0070062, GO:0042589, GO:0031012, GO:0030670, GO:0019898, GO:0005737, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, zymogen granule membrane, extracellular matrix, phagocytic vesicle membrane, extrinsic component of membrane, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0050840, GO:0048306, GO:0038187, GO:0035375, GO:0005515, GO:0005044, GO:0005044, extracellular matrix binding, calcium-dependent protein binding, pattern recognition receptor activity, zymogen binding, protein binding, scavenger receptor activity, scavenger receptor activity, GO:0051607, GO:0050830, GO:0050829, GO:0045087, GO:0044267, GO:0043152, GO:0042494, GO:0030855, GO:0030855, GO:0016032, GO:0015031, GO:0007275, GO:0006952, GO:0006897, defense response to virus, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, cellular protein metabolic process, induction of bacterial agglutination, detection of bacterial lipoprotein, epithelial cell differentiation, epithelial cell differentiation, viral process, protein transport, multicellular organism development, defense response, endocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000187912 chr19 14583084 14611157 + CLEC17A protein_coding 388512 GO:0016021, GO:0009986, integral component of membrane, cell surface, GO:0046872, GO:0042806, GO:0042802, GO:0005537, GO:0005515, metal ion binding, fucose binding, identical protein binding, mannose binding, protein binding, 190 201 273 226 312 321 369 220 303 ENSG00000187918 chr11 5449323 5456518 + OR51I2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390064 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000187922 chr9 136738167 136743356 - LCN10 protein_coding Members of the lipocalin family, such as LCN10, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]. 414332 GO:0005576, extracellular region, GO:0036094, small molecule binding, 0 3 0 0 0 4 0 1 0 ENSG00000187942 chr1 21812265 21825221 + LDLRAD2 protein_coding 401944 GO:0016021, integral component of membrane, 0 0 2 2 2 1 2 0 0 ENSG00000187944 chr2 196805002 196810276 - C2orf66 protein_coding 401027 GO:0005576, extracellular region, 0 0 1 0 0 6 0 5 0 ENSG00000187950 chr12 29412474 29497686 - OVCH1 protein_coding 341350 GO:0005576, extracellular region, GO:0046872, GO:0004252, metal ion binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 2 0 10 3 1 6 7 0 2 ENSG00000187951 chr15 30658717 30772993 + AC091057.1 processed_transcript 100288637 0 0 2 2 7 0 9 0 4 ENSG00000187952 chr1 21428303 21429536 + HS6ST1P1 processed_pseudogene 4 2 5 0 1 1 4 3 2 ENSG00000187953 chr7 6710128 6753862 + PMS2CL transcribed_unprocessed_pseudogene 94 98 142 52 91 74 68 56 64 ENSG00000187954 chr8 144449582 144465677 - CYHR1 protein_coding 50626 GO:0048471, GO:0005654, perinuclear region of cytoplasm, nucleoplasm, GO:0008270, GO:0005515, zinc ion binding, protein binding, 973 869 748 1437 1309 984 1424 925 787 ENSG00000187955 chr8 120059780 120372036 + COL14A1 protein_coding This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]. 7373 GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005615, GO:0005614, GO:0005596, GO:0005581, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, extracellular space, interstitial matrix, collagen type XIV trimer, collagen trimer, extracellular region, extracellular region, GO:0030674, GO:0030020, GO:0030020, GO:0005518, GO:0005201, GO:0003723, protein-macromolecule adaptor activity, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, collagen binding, extracellular matrix structural constituent, RNA binding, GO:0098609, GO:0030199, GO:0030198, cell-cell adhesion, collagen fibril organization, extracellular matrix organization, 0 0 0 0 0 0 0 0 0 ENSG00000187957 chr2 229357629 229714558 - DNER protein_coding 92737 GO:0043025, GO:0030425, GO:0016021, GO:0005886, GO:0005769, neuronal cell body, dendrite, integral component of membrane, plasma membrane, early endosome, GO:0030276, GO:0005515, GO:0005509, GO:0005112, GO:0004888, clathrin binding, protein binding, calcium ion binding, Notch binding, transmembrane signaling receptor activity, GO:0048741, GO:0010001, GO:0007417, GO:0007416, GO:0007220, GO:0007219, GO:0006897, GO:0001764, skeletal muscle fiber development, glial cell differentiation, central nervous system development, synapse assembly, Notch receptor processing, Notch signaling pathway, endocytosis, neuron migration, 0 0 0 0 0 5 0 0 0 ENSG00000187959 chr17 73248449 73262352 - CPSF4L protein_coding 642843 GO:0005847, mRNA cleavage and polyadenylation specificity factor complex, GO:0046872, GO:0003723, metal ion binding, RNA binding, GO:0098789, pre-mRNA cleavage required for polyadenylation, 1 7 3 11 0 4 9 1 3 ENSG00000187961 chr1 960587 965715 + KLHL17 protein_coding The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]. 339451 GO:0043025, GO:0032839, GO:0015629, GO:0015629, GO:0014069, GO:0005615, neuronal cell body, dendrite cytoplasm, actin cytoskeleton, actin cytoskeleton, postsynaptic density, extracellular space, GO:0060090, GO:0051015, GO:0031208, GO:0005515, molecular adaptor activity, actin filament binding, POZ domain binding, protein binding, GO:0030036, GO:0030036, GO:0016567, GO:0007420, actin cytoskeleton organization, actin cytoskeleton organization, protein ubiquitination, brain development, 22 20 48 45 40 30 40 27 26 ENSG00000187969 chrX 74304190 74305031 + ZCCHC13 protein_coding This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 3. However, the CDS of this intronless gene remains relatively intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. The encoded protein contains six CCHC-type zinc fingers, and is thus thought to function as a transcription factor. [provided by RefSeq, May 2010]. 389874 GO:0005737, cytoplasm, GO:0045182, GO:0008270, GO:0005515, GO:0003729, GO:0003727, translation regulator activity, zinc ion binding, protein binding, mRNA binding, single-stranded RNA binding, GO:2000767, positive regulation of cytoplasmic translation, 0 0 0 0 0 0 0 0 0 ENSG00000187979 chr22 18178038 18205915 - LINC02592 antisense 0 0 0 0 0 0 0 0 0 ENSG00000187980 chr1 20161253 20177424 - PLA2G2C protein_coding 391013 GO:0005576, extracellular region, GO:0047498, GO:0005543, GO:0005509, calcium-dependent phospholipase A2 activity, phospholipid binding, calcium ion binding, GO:0050482, GO:0016042, GO:0006644, arachidonic acid secretion, lipid catabolic process, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000187984 chr9 92809388 92888693 + ANKRD19P transcribed_unprocessed_pseudogene 6 6 4 8 7 18 5 2 9 ENSG00000187987 chr6 28431930 28443502 - ZSCAN23 protein_coding 222696 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 1 0 0 ENSG00000187988 chr9 37477149 37478317 + KCTD9P3 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000187994 chr19 38867834 38878279 - RINL protein_coding 126432 GO:0031410, GO:0015629, GO:0001726, cytoplasmic vesicle, actin cytoskeleton, ruffle, GO:0005096, GO:0005085, GTPase activator activity, guanyl-nucleotide exchange factor activity, GO:0043547, GO:0015031, GO:0006897, positive regulation of GTPase activity, protein transport, endocytosis, 178 178 200 257 334 458 323 227 241 ENSG00000187997 chr17 78146353 78166177 + C17orf99 protein_coding 100141515 GO:0005887, GO:0005615, integral component of plasma membrane, extracellular space, GO:0005125, GO:0004888, cytokine activity, transmembrane signaling receptor activity, GO:2000558, GO:0050776, GO:0007166, GO:0002313, GO:0002250, positive regulation of immunoglobulin production in mucosal tissue, regulation of immune response, cell surface receptor signaling pathway, mature B cell differentiation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000187999 chr2 33636502 33637425 + HNRNPA1P61 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000188000 chr19 9178979 9188817 + OR7D2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 162998 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, GO:0006355, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, regulation of transcription, DNA-templated, 0 0 0 0 1 0 0 0 0 ENSG00000188001 chr3 188947214 189325304 + TPRG1 protein_coding 285386 GO:0005737, cytoplasm, GO:0005515, protein binding, 17 13 24 22 32 49 11 29 29 ENSG00000188002 chr5 1598920 1634005 - AC026412.1 transcribed_unprocessed_pseudogene 9 4 13 25 7 24 24 3 22 ENSG00000188004 chr1 159834495 159855237 - SNHG28 lincRNA 284677 GO:0003723, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000188010 chr2 38875962 38929072 + MORN2 protein_coding 729967 GO:0005634, GO:0001669, nucleus, acrosomal vesicle, GO:0005515, protein binding, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000188011 chr2 241869600 241873823 + RTP5 protein_coding 285093 GO:0016021, integral component of membrane, GO:0031849, GO:0005515, olfactory receptor binding, protein binding, GO:0051205, GO:0006612, GO:0001580, protein insertion into membrane, protein targeting to membrane, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 2 0 0 0 ENSG00000188013 chr17 20589293 20590367 + MEIS3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188015 chr1 153547329 153549372 - S100A3 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]. 6274 GO:0005886, GO:0005829, GO:0005794, plasma membrane, cytosol, Golgi apparatus, GO:0048306, GO:0008270, GO:0005515, GO:0005509, calcium-dependent protein binding, zinc ion binding, protein binding, calcium ion binding, 1 3 1 2 0 0 0 9 0 ENSG00000188021 chrX 56563639 56567868 + UBQLN2 protein_coding This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009]. 29978 GO:0031410, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005776, GO:0005737, GO:0005634, cytoplasmic vesicle, plasma membrane, cytosol, cytosol, cytosol, autophagosome, cytoplasm, nucleus, GO:0042802, GO:0031593, GO:0005515, identical protein binding, polyubiquitin modification-dependent protein binding, protein binding, GO:2000785, GO:1904021, GO:1903071, GO:1900186, GO:0030433, GO:0030433, GO:0016241, GO:0016241, GO:0006511, GO:0000045, regulation of autophagosome assembly, negative regulation of G protein-coupled receptor internalization, positive regulation of ER-associated ubiquitin-dependent protein catabolic process, negative regulation of clathrin-dependent endocytosis, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, regulation of macroautophagy, regulation of macroautophagy, ubiquitin-dependent protein catabolic process, autophagosome assembly, 796 507 707 262 268 436 277 285 322 ENSG00000188026 chr12 123470054 123533718 - RILPL1 protein_coding 353116 GO:0036064, GO:0005929, GO:0005886, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005737, GO:0005654, ciliary basal body, cilium, plasma membrane, cytosol, cytosol, centriole, centrosome, cytoplasm, nucleoplasm, GO:0046983, GO:0005515, protein dimerization activity, protein binding, GO:1903445, GO:1901214, GO:0060271, GO:0003382, protein transport from ciliary membrane to plasma membrane, regulation of neuron death, cilium assembly, epithelial cell morphogenesis, 190 178 117 245 286 224 288 174 150 ENSG00000188029 chr9 87772453 87786884 + CTSL3P transcribed_unprocessed_pseudogene 392360 GO:0005764, GO:0005615, lysosome, extracellular space, GO:0004197, cysteine-type endopeptidase activity, GO:0051603, proteolysis involved in cellular protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000188032 chr19 14081619 14085875 - C19orf67 protein_coding 646457 0 2 0 2 0 0 1 0 0 ENSG00000188033 chr19 12577961 12640098 - ZNF490 protein_coding 57474 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 14 14 12 25 19 28 15 24 19 ENSG00000188037 chr7 143316126 143352083 + CLCN1 protein_coding The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 1180 GO:0042383, GO:0034707, GO:0005887, GO:0005887, GO:0005887, GO:0005886, sarcolemma, chloride channel complex, integral component of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0042803, GO:0005515, GO:0005247, GO:0005247, protein homodimerization activity, protein binding, voltage-gated chloride channel activity, voltage-gated chloride channel activity, GO:1902476, GO:0034765, GO:0034220, GO:0019227, GO:0006936, GO:0006821, chloride transmembrane transport, regulation of ion transmembrane transport, ion transmembrane transport, neuronal action potential propagation, muscle contraction, chloride transport, 1 1 1 2 3 6 1 2 0 ENSG00000188038 chr16 67884805 67888855 + NRN1L protein_coding The protein encoded by this gene is extracellular and enhances both neurite growth and neuronal survival. The encoded protein is found both as a GPI anchored membrane-bound form and as a secreted form. This activity-related ligand functions as a homodimer or heterodimer. [provided by RefSeq, Feb 2017]. 123904 GO:0046658, GO:0030424, GO:0005886, GO:0005615, GO:0005576, anchored component of plasma membrane, axon, plasma membrane, extracellular space, extracellular region, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1990138, neuron projection extension, 0 0 0 0 0 0 0 0 0 ENSG00000188039 chr19 16719976 16817963 + NWD1 protein_coding The protein encoded by this gene is thought to be a cytosolic protein and predicted to contain a NACHT domain and multiple WD40 repeats. Increased expression of this gene was observed in some prostate cancer cell lines. Knocking down expression of this gene results in decreased androgen receptor protein levels, indicating that this gene may be important in modulating androgen receptor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 284434 GO:0005829, cytosol, GO:0005524, ATP binding, GO:0032088, GO:0010628, negative regulation of NF-kappaB transcription factor activity, positive regulation of gene expression, 0 1 0 0 1 0 0 0 0 ENSG00000188042 chr2 234493041 234497053 - ARL4C protein_coding ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]. 10123 GO:0030175, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, filopodium, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, GO:0043014, GO:0005525, GO:0005515, GO:0003924, alpha-tubulin binding, GTP binding, protein binding, GTPase activity, GO:0032456, GO:0032456, GO:0016192, GO:0006886, endocytic recycling, endocytic recycling, vesicle-mediated transport, intracellular protein transport, 1007 963 2595 758 341 1057 1077 406 1009 ENSG00000188050 chr7 122697712 122699156 - RNF133 protein_coding The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq, Jul 2008]. 168433 GO:0016021, GO:0005794, GO:0005789, GO:0005783, GO:0005770, GO:0005737, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, late endosome, cytoplasm, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0051865, GO:0006511, protein autoubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000188051 chr19 17435509 17448567 - TMEM221 protein_coding 100130519 GO:0016021, integral component of membrane, 2 0 1 0 0 0 3 2 0 ENSG00000188056 chr6 41228324 41238882 + TREML4 protein_coding 285852 GO:0009986, GO:0005886, GO:0005576, cell surface, plasma membrane, extracellular region, GO:0038023, signaling receptor activity, GO:0050776, GO:0045087, GO:0034157, GO:0034157, regulation of immune response, innate immune response, positive regulation of toll-like receptor 7 signaling pathway, positive regulation of toll-like receptor 7 signaling pathway, 203 936 660 228 695 486 254 507 535 ENSG00000188060 chr1 28592200 28595443 + RAB42 protein_coding 115273 GO:0005886, plasma membrane, GO:0019003, GO:0005525, GO:0003924, GDP binding, GTP binding, GTPase activity, GO:0007265, Ras protein signal transduction, 7 15 2 4 17 12 2 6 1 ENSG00000188064 chr22 45920362 45977129 - WNT7B protein_coding This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008]. 7477 GO:0070062, GO:0030666, GO:0005886, GO:0005796, GO:0005788, GO:0005615, GO:0005576, extracellular exosome, endocytic vesicle membrane, plasma membrane, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, GO:0048018, GO:0005515, GO:0005125, GO:0005109, receptor ligand activity, protein binding, cytokine activity, frizzled binding, GO:0072236, GO:0072207, GO:0072205, GO:0072089, GO:0072061, GO:0072060, GO:0072054, GO:0072053, GO:0071300, GO:0070307, GO:0061180, GO:0060710, GO:0060669, GO:0060560, GO:0060535, GO:0060482, GO:0060428, GO:0060425, GO:0060070, GO:0060070, GO:0060070, GO:0050808, GO:0048568, GO:0048144, GO:0046330, GO:0045669, GO:0045165, GO:0044237, GO:0042592, GO:0032364, GO:0030324, GO:0030182, GO:0030182, GO:0022009, GO:0021871, GO:0016332, GO:0016055, GO:0016055, GO:0003338, GO:0001701, metanephric loop of Henle development, metanephric epithelium development, metanephric collecting duct development, stem cell proliferation, inner medullary collecting duct development, outer medullary collecting duct development, renal outer medulla development, renal inner medulla development, cellular response to retinoic acid, lens fiber cell development, mammary gland epithelium development, chorio-allantoic fusion, embryonic placenta morphogenesis, developmental growth involved in morphogenesis, trachea cartilage morphogenesis, lobar bronchus development, lung epithelium development, lung morphogenesis, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, synapse organization, embryonic organ development, fibroblast proliferation, positive regulation of JNK cascade, positive regulation of osteoblast differentiation, cell fate commitment, cellular metabolic process, homeostatic process, oxygen homeostasis, lung development, neuron differentiation, neuron differentiation, central nervous system vasculogenesis, forebrain regionalization, establishment or maintenance of polarity of embryonic epithelium, Wnt signaling pathway, Wnt signaling pathway, metanephros morphogenesis, in utero embryonic development, 0 0 0 0 0 0 0 0 0 ENSG00000188070 chr11 63759892 63768775 - C11orf95 protein_coding 65998 GO:0045892, negative regulation of transcription, DNA-templated, 3 2 7 5 11 9 13 5 10 ENSG00000188076 chr11 193080 194573 + SCGB1C1 protein_coding 147199 GO:0005576, extracellular region, 0 0 1 1 0 0 0 0 0 ENSG00000188078 chr22 36536656 36537604 - AL022313.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188086 chr3 46742092 46744755 - PRSS45 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000188089 chr15 41981582 42051190 - PLA2G4E protein_coding This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]. 123745 GO:0031901, GO:0005886, GO:0005829, GO:0005829, GO:0005765, early endosome membrane, plasma membrane, cytosol, cytosol, lysosomal membrane, GO:0102568, GO:0102567, GO:0080025, GO:0070273, GO:0047498, GO:0043325, GO:0032266, GO:0016410, GO:0010314, GO:0005547, GO:0005546, GO:0005544, GO:0005509, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-4-phosphate binding, calcium-dependent phospholipase A2 activity, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3-phosphate binding, N-acyltransferase activity, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, calcium ion binding, phospholipase A2 activity, GO:2001137, GO:0070292, GO:0046475, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0006644, positive regulation of endocytic recycling, N-acylphosphatidylethanolamine metabolic process, glycerophospholipid catabolic process, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000188092 chr1 147928393 147993521 + GPR89B protein_coding 51463 GO:0032580, GO:0016021, Golgi cisterna membrane, integral component of membrane, GO:0008308, GO:0005515, voltage-gated anion channel activity, protein binding, GO:0051452, GO:0034765, GO:0034220, GO:0030217, GO:0015698, GO:0015031, intracellular pH reduction, regulation of ion transmembrane transport, ion transmembrane transport, T cell differentiation, inorganic anion transport, protein transport, 45 11 38 35 17 40 34 19 27 ENSG00000188095 chr15 89760591 89778754 + MESP2 protein_coding This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]. 145873 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046983, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0032525, GO:0007219, GO:0006357, GO:0003007, GO:0001707, somite rostral/caudal axis specification, Notch signaling pathway, regulation of transcription by RNA polymerase II, heart morphogenesis, mesoderm formation, 0 0 0 0 0 0 0 0 0 ENSG00000188100 chr10 87020306 87024730 + FAM25A protein_coding 643161 0 0 0 0 0 0 0 0 0 ENSG00000188101 chr9 92913156 92921560 + ALOX15P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188107 chr6 63719980 65707225 - EYS protein_coding The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 346007 GO:0070062, GO:0033165, GO:0005815, GO:0005737, GO:0001750, extracellular exosome, interphotoreceptor matrix, microtubule organizing center, cytoplasm, photoreceptor outer segment, GO:0005509, GO:0003674, calcium ion binding, molecular_function, GO:0050908, GO:0043403, detection of light stimulus involved in visual perception, skeletal muscle tissue regeneration, 49 43 44 18 20 33 44 21 40 ENSG00000188112 chr6 42101118 42142619 - C6orf132 protein_coding 647024 0 0 0 0 0 0 5 1 1 ENSG00000188120 chrY 23129355 23199094 - DAZ1 protein_coding This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008]. 1617 GO:0032991, GO:0005737, GO:0005737, GO:0005634, protein-containing complex, cytoplasm, cytoplasm, nucleus, GO:0008494, GO:0008494, GO:0005515, GO:0003730, translation activator activity, translation activator activity, protein binding, mRNA 3'-UTR binding, GO:0070935, GO:0045948, GO:0045948, GO:0030154, GO:0007283, GO:0007275, 3'-UTR-mediated mRNA stabilization, positive regulation of translational initiation, positive regulation of translational initiation, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000188124 chr11 6765626 6771976 - OR2AG2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 338755 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000188130 chr22 50245450 50261825 - MAPK12 protein_coding Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]. 6300 GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0004707, GO:0004674, GO:0004674, GO:0000287, ATP binding, protein binding, MAP kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0051149, GO:0045445, GO:0035556, GO:0018105, GO:0018105, GO:0010952, GO:0010468, GO:0007517, GO:0007165, GO:0007050, GO:0006975, GO:0000165, positive regulation of muscle cell differentiation, myoblast differentiation, intracellular signal transduction, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, positive regulation of peptidase activity, regulation of gene expression, muscle organ development, signal transduction, cell cycle arrest, DNA damage induced protein phosphorylation, MAPK cascade, 4 0 2 2 5 3 2 0 0 ENSG00000188133 chr9 32783499 32787399 + TMEM215 protein_coding 401498 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000188152 chr9 96928310 96940253 + NUTM2G protein_coding 441457 7 6 7 13 9 18 9 3 15 ENSG00000188153 chrX 108439844 108697545 + COL4A5 protein_coding This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]. 1287 GO:0062023, GO:0031594, GO:0031012, GO:0005788, GO:0005615, GO:0005604, GO:0005587, GO:0005576, collagen-containing extracellular matrix, neuromuscular junction, extracellular matrix, endoplasmic reticulum lumen, extracellular space, basement membrane, collagen type IV trimer, extracellular region, GO:0030020, GO:0030020, GO:0005201, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, GO:0038063, GO:0030198, GO:0030198, GO:0007528, collagen-activated tyrosine kinase receptor signaling pathway, extracellular matrix organization, extracellular matrix organization, neuromuscular junction development, 0 0 0 0 0 0 0 0 0 ENSG00000188155 chr21 44591268 44592505 - KRTAP10-6 protein_coding 386674 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 1 0 0 0 0 0 0 ENSG00000188157 chr1 1020123 1056118 + AGRN protein_coding This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]. 375790 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0062023, GO:0045202, GO:0043202, GO:0016021, GO:0005886, GO:0005886, GO:0005829, GO:0005796, GO:0005604, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, synapse, lysosomal lumen, integral component of membrane, plasma membrane, plasma membrane, cytosol, Golgi lumen, basement membrane, extracellular region, GO:0043395, GO:0043236, GO:0035374, GO:0033691, GO:0005515, GO:0005509, GO:0005201, GO:0005200, GO:0002162, heparan sulfate proteoglycan binding, laminin binding, chondroitin sulfate binding, sialic acid binding, protein binding, calcium ion binding, extracellular matrix structural constituent, structural constituent of cytoskeleton, dystroglycan binding, GO:0051491, GO:0050808, GO:0045944, GO:0045887, GO:0045162, GO:0043547, GO:0043113, GO:0043113, GO:0043113, GO:0030198, GO:0009888, GO:0009887, GO:0007528, GO:0007213, GO:0007165, GO:0007010, GO:0006027, GO:0006024, GO:0001523, positive regulation of filopodium assembly, synapse organization, positive regulation of transcription by RNA polymerase II, positive regulation of synaptic growth at neuromuscular junction, clustering of voltage-gated sodium channels, positive regulation of GTPase activity, receptor clustering, receptor clustering, receptor clustering, extracellular matrix organization, tissue development, animal organ morphogenesis, neuromuscular junction development, G protein-coupled acetylcholine receptor signaling pathway, signal transduction, cytoskeleton organization, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, retinoid metabolic process, 14 20 30 19 7 12 19 8 17 ENSG00000188158 chrX 17375420 17735994 + NHS protein_coding This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]. 4810 GO:0030054, GO:0030027, GO:0016604, GO:0016324, GO:0005925, GO:0005923, GO:0005794, cell junction, lamellipodium, nuclear body, apical plasma membrane, focal adhesion, bicellular tight junction, Golgi apparatus, GO:0030154, GO:0002088, cell differentiation, lens development in camera-type eye, 353 681 496 360 787 529 389 529 422 ENSG00000188162 chr11 17547373 17647150 + OTOG protein_coding The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]. 340990 GO:0031012, GO:0016324, GO:0005829, GO:0005615, extracellular matrix, apical plasma membrane, cytosol, extracellular space, GO:0046556, GO:0005198, alpha-L-arabinofuranosidase activity, structural molecule activity, GO:0046373, GO:0008344, GO:0007605, L-arabinose metabolic process, adult locomotory behavior, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000188163 chr9 137243584 137247770 - FAM166A protein_coding 401565 GO:0036064, GO:0005634, ciliary basal body, nucleus, GO:0005515, protein binding, 23 23 25 100 189 109 52 87 102 ENSG00000188167 chr3 33090421 33096801 - TMPPE protein_coding 643853 GO:0016021, integral component of membrane, GO:0046872, GO:0016787, GO:0005515, metal ion binding, hydrolase activity, protein binding, 161 165 217 50 131 97 124 97 109 ENSG00000188171 chr19 20620061 20661596 - ZNF626 protein_coding 199777 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 14 13 17 26 35 17 15 12 21 ENSG00000188175 chr7 93188586 93226524 - HEPACAM2 protein_coding This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]. 253012 GO:0072686, GO:0043231, GO:0030496, GO:0030496, GO:0016021, GO:0005819, GO:0005819, GO:0005813, GO:0005813, GO:0005794, GO:0005794, GO:0005654, GO:0000139, mitotic spindle, intracellular membrane-bounded organelle, midbody, midbody, integral component of membrane, spindle, spindle, centrosome, centrosome, Golgi apparatus, Golgi apparatus, nucleoplasm, Golgi membrane, GO:0005515, protein binding, GO:0051301, GO:0007098, GO:0007098, cell division, centrosome cycle, centrosome cycle, 0 0 0 0 0 0 0 0 0 ENSG00000188176 chr17 4583999 4608319 + SMTNL2 protein_coding 342527 GO:0031941, GO:0031674, GO:0031430, GO:0005815, filamentous actin, I band, M band, microtubule organizing center, GO:0008157, GO:0005523, protein phosphatase 1 binding, tropomyosin binding, GO:0045907, GO:0030036, positive regulation of vasoconstriction, actin cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000188177 chr2 112275594 112340063 + ZC3H6 protein_coding 376940 GO:0005634, GO:0005575, GO:0000785, nucleus, cellular_component, chromatin, GO:0046872, GO:0003674, GO:0000981, metal ion binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 158 178 172 168 209 214 153 149 155 ENSG00000188185 chr7 39733632 39793092 + LINC00265 lincRNA 21 21 26 12 9 51 26 18 27 ENSG00000188186 chr7 100148907 100155944 + LAMTOR4 protein_coding 389541 GO:0071986, GO:0071986, GO:0043231, GO:0005765, GO:0005764, GO:0005764, Ragulator complex, Ragulator complex, intracellular membrane-bounded organelle, lysosomal membrane, lysosome, lysosome, GO:0060090, GO:0005515, GO:0005085, GO:0005085, molecular adaptor activity, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0071230, GO:0071230, GO:0061462, GO:0032008, GO:0032008, GO:0016241, GO:0008361, GO:0007050, cellular response to amino acid stimulus, cellular response to amino acid stimulus, protein localization to lysosome, positive regulation of TOR signaling, positive regulation of TOR signaling, regulation of macroautophagy, regulation of cell size, cell cycle arrest, 1919 1915 2449 1334 2378 2001 1554 2113 1794 ENSG00000188191 chr7 549197 727650 - PRKAR1B protein_coding The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]. 5575 GO:0098978, GO:0098686, GO:0098685, GO:0097546, GO:0005952, GO:0005952, GO:0005886, GO:0005829, GO:0005771, glutamatergic synapse, hippocampal mossy fiber to CA3 synapse, Schaffer collateral - CA1 synapse, ciliary base, cAMP-dependent protein kinase complex, cAMP-dependent protein kinase complex, plasma membrane, cytosol, multivesicular body, GO:0034236, GO:0030552, GO:0008603, GO:0008603, GO:0008603, GO:0005515, GO:0004862, protein kinase A catalytic subunit binding, cAMP binding, cAMP-dependent protein kinase regulator activity, cAMP-dependent protein kinase regulator activity, cAMP-dependent protein kinase regulator activity, protein binding, cAMP-dependent protein kinase inhibitor activity, GO:2000480, GO:0098693, GO:0071377, GO:0050804, GO:0043949, GO:0034199, GO:0010738, GO:0007611, GO:0007596, GO:0006468, GO:0003091, negative regulation of cAMP-dependent protein kinase activity, regulation of synaptic vesicle cycle, cellular response to glucagon stimulus, modulation of chemical synaptic transmission, regulation of cAMP-mediated signaling, activation of protein kinase A activity, regulation of protein kinase A signaling, learning or memory, blood coagulation, protein phosphorylation, renal water homeostasis, 3 7 9 25 15 116 29 3 75 ENSG00000188199 chr10 79703227 79714681 + NUTM2B protein_coding 729262 7 13 7 4 0 13 15 5 12 ENSG00000188211 chr11 17351726 17377341 + NCR3LG1 protein_coding B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]. 374383 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0050776, regulation of immune response, 15 16 45 142 117 154 182 70 76 ENSG00000188215 chr16 20854925 20900384 - DCUN1D3 protein_coding 123879 GO:0048471, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005634, GO:0000151, perinuclear region of cytoplasm, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, ubiquitin ligase complex, GO:0097602, GO:0097602, GO:0032182, GO:0031624, GO:0005515, GO:0003674, cullin family protein binding, cullin family protein binding, ubiquitin-like protein binding, ubiquitin conjugating enzyme binding, protein binding, molecular_function, GO:2000436, GO:2000435, GO:2000434, GO:2000134, GO:0051443, GO:0045116, GO:0043687, GO:0043065, GO:0030308, GO:0010564, GO:0010332, GO:0010225, positive regulation of protein neddylation, negative regulation of protein neddylation, regulation of protein neddylation, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of ubiquitin-protein transferase activity, protein neddylation, post-translational protein modification, positive regulation of apoptotic process, negative regulation of cell growth, regulation of cell cycle process, response to gamma radiation, response to UV-C, 468 618 523 502 567 487 423 352 367 ENSG00000188219 chr2 131218067 131265278 + POTEE protein_coding 445582 GO:0072562, GO:0070062, GO:0005615, blood microparticle, extracellular exosome, extracellular space, GO:0003674, molecular_function, GO:0021762, GO:0001895, substantia nigra development, retina homeostasis, 0 0 0 1 0 0 0 0 0 ENSG00000188223 chr19 35745678 35754519 + AD000671.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000188227 chr19 37506939 37548762 + ZNF793 protein_coding 390927 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 8 7 8 17 4 9 30 8 17 ENSG00000188229 chr9 137241213 137243707 + TUBB4B protein_coding 10383 GO:1903561, GO:0070062, GO:0035578, GO:0005874, GO:0005874, GO:0005856, GO:0005829, GO:0005737, GO:0005634, GO:0005576, extracellular vesicle, extracellular exosome, azurophil granule lumen, microtubule, microtubule, cytoskeleton, cytosol, cytoplasm, nucleus, extracellular region, GO:0051082, GO:0042288, GO:0005525, GO:0005515, GO:0005200, GO:0003924, GO:0003725, unfolded protein binding, MHC class I protein binding, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, double-stranded RNA binding, GO:0097711, GO:0043312, GO:0042267, GO:0010389, GO:0000278, GO:0000226, GO:0000086, ciliary basal body-plasma membrane docking, neutrophil degranulation, natural killer cell mediated cytotoxicity, regulation of G2/M transition of mitotic cell cycle, mitotic cell cycle, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 942 1096 1619 4586 9143 6517 2558 3369 3930 ENSG00000188234 chr10 45825594 45853875 - AGAP4 protein_coding 119016 GO:0005634, nucleus, GO:0046872, GO:0005096, metal ion binding, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 119 149 135 150 232 131 176 121 126 ENSG00000188242 chr5 466124 473098 - PP7080 3prime_overlapping_ncRNA 25845 5 8 4 24 40 17 29 12 15 ENSG00000188243 chr13 75525219 75549439 - COMMD6 protein_coding COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009]. 170622 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0051059, GO:0051059, GO:0005515, NF-kappaB binding, NF-kappaB binding, protein binding, GO:0032088, GO:0032088, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, 115 96 147 145 157 168 115 139 143 ENSG00000188257 chr1 19975431 19980416 - PLA2G2A protein_coding The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5' UTRs have been found for this gene.[provided by RefSeq, Sep 2009]. 5320 GO:0070062, GO:0048471, GO:0030141, GO:0005886, GO:0005789, GO:0005783, GO:0005741, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, secretory granule, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial outer membrane, extracellular space, extracellular space, extracellular region, GO:0102568, GO:0102567, GO:0047498, GO:0047498, GO:0047498, GO:0005543, GO:0005543, GO:0005509, GO:0004623, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, phospholipid binding, phospholipid binding, calcium ion binding, phospholipase A2 activity, GO:1902563, GO:0070374, GO:0050830, GO:0050830, GO:0050729, GO:0050482, GO:0046473, GO:0046470, GO:0046337, GO:0036335, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0034374, GO:0019835, GO:0019730, GO:0016042, GO:0010744, GO:0006954, GO:0006654, GO:0006644, GO:0006644, regulation of neutrophil activation, positive regulation of ERK1 and ERK2 cascade, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, positive regulation of inflammatory response, arachidonic acid secretion, phosphatidic acid metabolic process, phosphatidylcholine metabolic process, phosphatidylethanolamine metabolic process, intestinal stem cell homeostasis, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, low-density lipoprotein particle remodeling, cytolysis, antimicrobial humoral response, lipid catabolic process, positive regulation of macrophage derived foam cell differentiation, inflammatory response, phosphatidic acid biosynthetic process, phospholipid metabolic process, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000188263 chr22 49994513 50012659 - IL17REL protein_coding 400935 GO:0030368, interleukin-17 receptor activity, GO:0019221, cytokine-mediated signaling pathway, 1 2 0 0 0 0 0 0 0 ENSG00000188266 chr15 78507564 78537372 + HYKK protein_coding 123688 GO:0005759, mitochondrial matrix, GO:0047992, GO:0047992, GO:0019202, hydroxylysine kinase activity, hydroxylysine kinase activity, amino acid kinase activity, GO:0016310, GO:0006554, phosphorylation, lysine catabolic process, 2 0 2 0 1 0 2 0 0 ENSG00000188269 chr19 14824251 14835285 - OR7A5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26659 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000188277 chr15 40770080 40772449 + C15orf62 protein_coding 643338 GO:0005886, GO:0005856, GO:0005739, GO:0005737, plasma membrane, cytoskeleton, mitochondrion, cytoplasm, GO:0031267, small GTPase binding, GO:0031274, GO:0030838, GO:0008360, GO:0007266, positive regulation of pseudopodium assembly, positive regulation of actin filament polymerization, regulation of cell shape, Rho protein signal transduction, 5 8 9 21 16 28 29 9 3 ENSG00000188280 chr22 20338805 20354372 + AC007731.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000188282 chr2 218034960 218090581 + RUFY4 protein_coding 285180 GO:0031410, GO:0005776, GO:0005776, cytoplasmic vesicle, autophagosome, autophagosome, GO:0046872, GO:0032266, GO:0032266, GO:0005515, metal ion binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, protein binding, GO:0071353, GO:0016239, GO:0016239, GO:0000045, GO:0000045, cellular response to interleukin-4, positive regulation of macroautophagy, positive regulation of macroautophagy, autophagosome assembly, autophagosome assembly, 18 17 10 14 26 32 18 22 7 ENSG00000188283 chr19 37217926 37248738 + ZNF383 protein_coding The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016]. 163087 GO:0031965, GO:0005737, GO:0005654, GO:0000785, nuclear membrane, cytoplasm, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 33 29 27 27 60 50 68 30 35 ENSG00000188290 chr1 998962 1000172 - HES4 protein_coding 57801 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046983, GO:0008134, GO:0005515, GO:0000981, GO:0000981, GO:0000978, protein dimerization activity, transcription factor binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009952, GO:0007399, GO:0006357, cell differentiation, anterior/posterior pattern specification, nervous system development, regulation of transcription by RNA polymerase II, 45 53 78 674 330 513 821 471 474 ENSG00000188293 chr19 46229752 46231243 + IGFL1 protein_coding The protein encoded by this gene is a member of the insulin-like growth factor family of signaling molecules. The encoded protein is synthesized as a precursor protein and is proteolytically cleaved to form a secreted mature peptide. The mature peptide binds to a receptor, which in mouse was found on the cell surface of T cells. Increased expression of this gene may be linked to psoriasis. [provided by RefSeq, Aug 2016]. 374918 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0005515, GO:0005102, protein binding, signaling receptor binding, 0 0 0 0 0 0 0 0 0 ENSG00000188295 chr1 247099962 247104372 - ZNF669 protein_coding 79862 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 60 61 72 167 186 169 139 95 93 ENSG00000188305 chr19 2274622 2282176 - PEAK3 protein_coding 374872 GO:0015629, GO:0005925, actin cytoskeleton, focal adhesion, GO:0043621, GO:0005515, GO:0004672, protein self-association, protein binding, protein kinase activity, GO:0032956, GO:0008360, GO:0006468, regulation of actin cytoskeleton organization, regulation of cell shape, protein phosphorylation, 239 197 280 56 177 114 124 153 125 ENSG00000188306 chr3 169821922 169837775 + LRRIQ4 protein_coding 344657 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0004722, protein serine/threonine phosphatase activity, GO:0007165, GO:0006470, signal transduction, protein dephosphorylation, 0 0 0 0 6 0 0 0 0 ENSG00000188312 chr9 92325484 92620533 + CENPP protein_coding CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]. 401541 GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000775, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromosome, centromeric region, GO:0005515, protein binding, GO:0034080, CENP-A containing nucleosome assembly, 120 117 179 120 110 144 126 87 94 ENSG00000188313 chr3 146515180 146544864 - PLSCR1 protein_coding 5359 GO:0070062, GO:0062023, GO:0048471, GO:0045121, GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005737, GO:0005730, GO:0005654, GO:0005634, extracellular exosome, collagen-containing extracellular matrix, perinuclear region of cytoplasm, membrane raft, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0045340, GO:0042609, GO:0032791, GO:0019899, GO:0017128, GO:0017128, GO:0017124, GO:0008270, GO:0005515, GO:0005509, GO:0005509, GO:0005154, GO:0004518, GO:0003677, GO:0001618, GO:0001228, GO:0000287, mercury ion binding, CD4 receptor binding, lead ion binding, enzyme binding, phospholipid scramblase activity, phospholipid scramblase activity, SH3 domain binding, zinc ion binding, protein binding, calcium ion binding, calcium ion binding, epidermal growth factor receptor binding, nuclease activity, DNA binding, virus receptor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, magnesium ion binding, GO:2000373, GO:1905820, GO:0090305, GO:0070782, GO:0060368, GO:0051607, GO:0050765, GO:0046718, GO:0045944, GO:0045089, GO:0045071, GO:0035456, GO:0033003, GO:0030168, GO:0017121, GO:0017121, GO:0010628, GO:0010288, GO:0006953, GO:0006915, GO:0006659, positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity, positive regulation of chromosome separation, nucleic acid phosphodiester bond hydrolysis, phosphatidylserine exposure on apoptotic cell surface, regulation of Fc receptor mediated stimulatory signaling pathway, defense response to virus, negative regulation of phagocytosis, viral entry into host cell, positive regulation of transcription by RNA polymerase II, positive regulation of innate immune response, negative regulation of viral genome replication, response to interferon-beta, regulation of mast cell activation, platelet activation, plasma membrane phospholipid scrambling, plasma membrane phospholipid scrambling, positive regulation of gene expression, response to lead ion, acute-phase response, apoptotic process, phosphatidylserine biosynthetic process, 1335 1046 1950 880 1017 1201 1164 919 1209 ENSG00000188314 chr19 9235144 9236076 + OR7D1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188315 chr3 49268602 49277909 - C3orf62 protein_coding 375341 GO:0005515, protein binding, 972 1355 1219 1656 2350 2132 1768 1454 1569 ENSG00000188316 chr10 116849512 116911788 + ENO4 protein_coding 387712 GO:0005575, GO:0000015, cellular_component, phosphopyruvate hydratase complex, GO:0004634, GO:0003674, GO:0000287, phosphopyruvate hydratase activity, molecular_function, magnesium ion binding, GO:0032889, GO:0008150, GO:0006096, GO:0006096, regulation of vacuole fusion, non-autophagic, biological_process, glycolytic process, glycolytic process, 0 0 0 0 0 1 0 0 0 ENSG00000188321 chr19 9323772 9351162 + ZNF559 protein_coding 84527 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 33 63 51 31 58 40 32 56 37 ENSG00000188322 chr16 28292519 28323849 + SBK1 protein_coding 388228 GO:0005737, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein serine/threonine kinase activity, GO:0018107, GO:0018105, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, 18 16 49 32 16 78 54 14 63 ENSG00000188324 chr12 55293988 55296569 - OR6C6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 283365 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000188334 chr19 47968046 47992170 - BSPH1 protein_coding 100131137 GO:0009986, GO:0005576, cell surface, extracellular region, GO:0008201, heparin binding, GO:0048240, GO:0007338, sperm capacitation, single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000188338 chr3 50205246 50221486 + SLC38A3 protein_coding 10991 GO:0016324, GO:0016323, GO:0005887, GO:0005887, GO:0005886, GO:0005886, apical plasma membrane, basolateral plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0015297, GO:0015293, GO:0015186, GO:0015186, GO:0015182, GO:0015182, GO:0015180, GO:0015171, GO:0015171, GO:0005290, GO:0005290, antiporter activity, symporter activity, L-glutamine transmembrane transporter activity, L-glutamine transmembrane transporter activity, L-asparagine transmembrane transporter activity, L-asparagine transmembrane transporter activity, L-alanine transmembrane transporter activity, amino acid transmembrane transporter activity, amino acid transmembrane transporter activity, L-histidine transmembrane transporter activity, L-histidine transmembrane transporter activity, GO:2000487, GO:0150104, GO:0089709, GO:0061402, GO:0051365, GO:0015817, GO:0015817, GO:0015808, GO:0007565, GO:0007420, GO:0006868, GO:0006868, GO:0006867, GO:0006867, GO:0006865, GO:0006814, GO:0003333, positive regulation of glutamine transport, transport across blood-brain barrier, L-histidine transmembrane transport, positive regulation of transcription from RNA polymerase II promoter in response to acidic pH, cellular response to potassium ion starvation, histidine transport, histidine transport, L-alanine transport, female pregnancy, brain development, glutamine transport, glutamine transport, asparagine transport, asparagine transport, amino acid transport, sodium ion transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000188340 chr1 158774222 158781204 - OR6N2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81442 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 1 3 0 0 1 0 ENSG00000188342 chr13 45120515 45284909 + GTF2F2 protein_coding 2963 GO:0097550, GO:0015630, GO:0005674, GO:0005654, GO:0005654, GO:0005634, GO:0005634, transcription preinitiation complex, microtubule cytoskeleton, transcription factor TFIIF complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0016251, GO:0005524, GO:0005515, GO:0003678, GO:0003677, RNA polymerase II general transcription initiation factor activity, ATP binding, protein binding, DNA helicase activity, DNA binding, GO:0050434, GO:0042795, GO:0032508, GO:0016070, GO:0008543, GO:0006370, GO:0006368, GO:0006367, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0000398, positive regulation of viral transcription, snRNA transcription by RNA polymerase II, DNA duplex unwinding, RNA metabolic process, fibroblast growth factor receptor signaling pathway, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, mRNA splicing, via spliceosome, 119 124 138 101 138 100 103 152 84 ENSG00000188343 chr8 93698561 93731527 + FAM92A protein_coding 137392 GO:0097546, GO:0036064, GO:0035869, GO:0005814, GO:0005743, GO:0005737, GO:0005634, ciliary base, ciliary basal body, ciliary transition zone, centriole, mitochondrial inner membrane, cytoplasm, nucleus, GO:0005543, GO:0005515, phospholipid binding, protein binding, GO:0061024, GO:0060271, GO:0060271, GO:0045880, GO:0035108, GO:0007007, membrane organization, cilium assembly, cilium assembly, positive regulation of smoothened signaling pathway, limb morphogenesis, inner mitochondrial membrane organization, 84 64 100 46 48 72 46 41 58 ENSG00000188352 chr9 20658309 20995955 + FOCAD protein_coding 54914 GO:0016021, GO:0005925, integral component of membrane, focal adhesion, GO:0005515, protein binding, 180 107 127 148 117 131 149 73 126 ENSG00000188365 chr7 5419846 5423122 + AC092171.1 antisense 5 10 10 11 9 6 2 7 25 ENSG00000188368 chr19 42302098 42310821 + PRR19 protein_coding 284338 GO:0005515, protein binding, 4 4 6 14 0 14 1 3 9 ENSG00000188372 chr7 76397518 76442071 + ZP3 protein_coding The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]. 7784 GO:0062023, GO:0062023, GO:0035805, GO:0031012, GO:0016021, GO:0005886, GO:0005615, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, egg coat, extracellular matrix, integral component of membrane, plasma membrane, extracellular space, extracellular region, GO:0048018, GO:0042802, GO:0035804, GO:0032190, GO:0032190, GO:0030246, GO:0005515, GO:0005201, receptor ligand activity, identical protein binding, structural constituent of egg coat, acrosin binding, acrosin binding, carbohydrate binding, protein binding, extracellular matrix structural constituent, GO:2000388, GO:2000386, GO:2000368, GO:2000368, GO:2000360, GO:2000344, GO:2000344, GO:0050729, GO:0048599, GO:0048015, GO:0045893, GO:0045892, GO:0042102, GO:0035803, GO:0035803, GO:0032753, GO:0032729, GO:0007339, GO:0007339, GO:0007339, GO:0007339, GO:0007339, GO:0002922, GO:0002687, GO:0002455, GO:0001825, GO:0001809, positive regulation of antral ovarian follicle growth, positive regulation of ovarian follicle development, positive regulation of acrosomal vesicle exocytosis, positive regulation of acrosomal vesicle exocytosis, negative regulation of binding of sperm to zona pellucida, positive regulation of acrosome reaction, positive regulation of acrosome reaction, positive regulation of inflammatory response, oocyte development, phosphatidylinositol-mediated signaling, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of T cell proliferation, egg coat formation, egg coat formation, positive regulation of interleukin-4 production, positive regulation of interferon-gamma production, binding of sperm to zona pellucida, binding of sperm to zona pellucida, binding of sperm to zona pellucida, binding of sperm to zona pellucida, binding of sperm to zona pellucida, positive regulation of humoral immune response, positive regulation of leukocyte migration, humoral immune response mediated by circulating immunoglobulin, blastocyst formation, positive regulation of type IV hypersensitivity, 0 0 4 4 4 9 5 11 8 ENSG00000188373 chr10 84173738 84185294 + C10orf99 protein_coding 387695 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048018, GO:0008009, GO:0005515, GO:0001664, receptor ligand activity, chemokine activity, protein binding, G protein-coupled receptor binding, GO:2000404, GO:1902807, GO:0051782, GO:0050832, GO:0050830, GO:0048247, GO:0007186, regulation of T cell migration, negative regulation of cell cycle G1/S phase transition, negative regulation of cell division, defense response to fungus, defense response to Gram-positive bacterium, lymphocyte chemotaxis, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000188375 chr12 31791185 31792241 - H3F3C protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. [provided by RefSeq, Oct 2015]. 440093 GO:0005634, GO:0000791, GO:0000786, nucleus, euchromatin, nucleosome, GO:0046982, GO:0031492, GO:0005515, protein heterodimerization activity, nucleosomal DNA binding, protein binding, GO:0030307, positive regulation of cell growth, 16 20 29 19 38 37 30 49 12 ENSG00000188379 chr9 21384254 21385388 - IFNA2 protein_coding This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded cytokine is a member of the type I interferon family that is produced in response to viral infection as a key part of the innate immune response with potent antiviral, antiproliferative and immunomodulatory properties. This cytokine, like other type I interferons, binds a plasma membrane receptor made of IFNAR1 and IFNAR2 that is ubiquitously expressed, and thus is able to act on virtually all body cells. The encoded protein is effective in reducing the symptoms and duration of the common cold and in treating many types of cancer, including some hematological malignancies and solid tumors. A deficiency of type I interferon in the blood is thought to be a hallmark of severe COVID-19 and may provide a rationale for a combined therapeutic approach. [provided by RefSeq, Aug 2020]. 3440 GO:0062023, GO:0062023, GO:0005615, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular space, extracellular region, GO:0005515, GO:0005132, GO:0005125, protein binding, type I interferon receptor binding, cytokine activity, GO:2000552, GO:0060337, GO:0051607, GO:0046597, GO:0045893, GO:0045892, GO:0045581, GO:0043330, GO:0042531, GO:0042327, GO:0042100, GO:0033141, GO:0032714, GO:0032696, GO:0030183, GO:0019221, GO:0010629, GO:0007596, GO:0007267, GO:0007166, GO:0006959, GO:0006954, GO:0006915, GO:0002323, GO:0002286, GO:0002250, negative regulation of T-helper 2 cell cytokine production, type I interferon signaling pathway, defense response to virus, negative regulation of viral entry into host cell, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of T cell differentiation, response to exogenous dsRNA, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of phosphorylation, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, negative regulation of interleukin-5 production, negative regulation of interleukin-13 production, B cell differentiation, cytokine-mediated signaling pathway, negative regulation of gene expression, blood coagulation, cell-cell signaling, cell surface receptor signaling pathway, humoral immune response, inflammatory response, apoptotic process, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000188383 chr2 97081098 97083249 + GPAT2P2 unprocessed_pseudogene 0 2 0 12 0 10 4 0 3 ENSG00000188385 chr10 132104671 132184809 + JAKMIP3 protein_coding 282973 GO:0005794, Golgi apparatus, GO:0019900, GO:0008017, kinase binding, microtubule binding, 4 7 4 15 10 18 1 9 8 ENSG00000188386 chr9 101591615 101595021 - PPP3R2 protein_coding 5535 GO:0005515, GO:0005509, protein binding, calcium ion binding, 0 2 0 1 0 0 6 1 3 ENSG00000188388 chr15 85240472 85247170 + GOLGA6L3 unprocessed_pseudogene 100133220 1 0 0 0 1 0 0 1 0 ENSG00000188389 chr2 241849881 241858908 - PDCD1 protein_coding Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]. 5133 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0070234, GO:0070234, GO:0050777, GO:0050776, GO:0043066, GO:0031295, GO:0007275, GO:0006959, GO:0006915, GO:0002644, GO:0002250, positive regulation of T cell apoptotic process, positive regulation of T cell apoptotic process, negative regulation of immune response, regulation of immune response, negative regulation of apoptotic process, T cell costimulation, multicellular organism development, humoral immune response, apoptotic process, negative regulation of tolerance induction, adaptive immune response, 1 2 6 4 0 1 5 0 2 ENSG00000188393 chr12 9898673 9932381 - CLEC2A protein_coding CLEC2A belongs to the CLEC2 family of activation-induced, natural killer gene complex-encoded C-type lectin-like receptors (Spreu et al., 2007 [PubMed 18046548]).[supplied by OMIM, May 2008]. 387836 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0042803, GO:0030246, GO:0005515, protein homodimerization activity, carbohydrate binding, protein binding, GO:0042267, natural killer cell mediated cytotoxicity, 1 8 13 2 25 18 2 13 13 ENSG00000188394 chr9 123034527 123035696 + GPR21 protein_coding This gene encodes a member of the G-protein-coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012]. 2844 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0046627, GO:0042593, GO:0040018, GO:0007186, negative regulation of insulin receptor signaling pathway, glucose homeostasis, positive regulation of multicellular organism growth, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000188396 chr1 44805913 44806675 - TCTEX1D4 protein_coding 343521 GO:0036126, sperm flagellum, GO:0008157, GO:0005515, protein phosphatase 1 binding, protein binding, 58 95 104 101 233 240 156 202 263 ENSG00000188399 chrY 26409815 26420535 + ANKRD36P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188403 chr15 19964666 19965101 - IGHV1OR15-9 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000188404 chr1 169690667 169711698 - SELL protein_coding This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]. 6402 GO:0030667, GO:0009897, GO:0005887, GO:0005886, secretory granule membrane, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0070492, GO:0050839, GO:0043208, GO:0030246, GO:0008201, GO:0005515, GO:0005509, GO:0002020, oligosaccharide binding, cell adhesion molecule binding, glycosphingolipid binding, carbohydrate binding, heparin binding, protein binding, calcium ion binding, protease binding, GO:0050901, GO:0050900, GO:0050776, GO:0043312, GO:0033198, GO:0016339, GO:0007155, leukocyte tethering or rolling, leukocyte migration, regulation of immune response, neutrophil degranulation, response to ATP, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, cell adhesion, 21373 17872 29139 4385 9807 8524 7300 9688 9187 ENSG00000188408 chrX 26216169 26218270 + MAGEB5 protein_coding 347541 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000188419 chrX 85861180 86047562 - CHM protein_coding This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]. 1121 GO:0005968, GO:0005968, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005634, Rab-protein geranylgeranyltransferase complex, Rab-protein geranylgeranyltransferase complex, cytosol, cytosol, cytosol, cytoplasm, nucleus, GO:0031267, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005092, GO:0004663, small GTPase binding, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, GDP-dissociation inhibitor activity, Rab geranylgeranyltransferase activity, GO:0043687, GO:0043547, GO:0042981, GO:0018344, GO:0018344, GO:0016192, GO:0007601, GO:0007264, GO:0006612, post-translational protein modification, positive regulation of GTPase activity, regulation of apoptotic process, protein geranylgeranylation, protein geranylgeranylation, vesicle-mediated transport, visual perception, small GTPase mediated signal transduction, protein targeting to membrane, 47 65 89 69 58 65 54 34 63 ENSG00000188425 chr19 45913214 45914870 - NANOS2 protein_coding 339345 GO:0048471, GO:0048471, GO:0005737, GO:0005634, GO:0000932, perinuclear region of cytoplasm, perinuclear region of cytoplasm, cytoplasm, nucleus, P-body, GO:0008270, GO:0005515, GO:0003729, zinc ion binding, protein binding, mRNA binding, GO:1900153, GO:0048477, GO:0045835, GO:0030718, GO:0017148, GO:0017148, GO:0007283, GO:0007275, GO:0006402, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, oogenesis, negative regulation of meiotic nuclear division, germ-line stem cell population maintenance, negative regulation of translation, negative regulation of translation, spermatogenesis, multicellular organism development, mRNA catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000188428 chr6 8013567 8064414 - BLOC1S5 protein_coding This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]. 63915 GO:1904115, GO:0031083, GO:0031083, GO:0030133, axon cytoplasm, BLOC-1 complex, BLOC-1 complex, transport vesicle, GO:0005515, protein binding, GO:0050942, GO:0048490, GO:0035646, GO:0032438, GO:0032402, GO:0031175, GO:0008089, positive regulation of pigment cell differentiation, anterograde synaptic vesicle transport, endosome to melanosome transport, melanosome organization, melanosome transport, neuron projection development, anterograde axonal transport, 35 20 23 26 13 28 39 11 22 ENSG00000188438 chr4 9399204 9403565 + DEFB108F unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188439 chr11 55683239 55684374 + OR4P1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188451 chr6 158237336 158242797 - SRP72P2 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000188452 chr2 181536676 181680665 - CERKL protein_coding This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]. 375298 GO:0048471, GO:0005829, GO:0005794, GO:0005783, GO:0005730, GO:0005654, GO:0001917, GO:0001750, perinuclear region of cytoplasm, cytosol, Golgi apparatus, endoplasmic reticulum, nucleolus, nucleoplasm, photoreceptor inner segment, photoreceptor outer segment, GO:0046625, GO:0003951, GO:0001727, sphingolipid binding, NAD+ kinase activity, lipid kinase activity, GO:0046834, GO:0030148, GO:0016310, GO:0006665, lipid phosphorylation, sphingolipid biosynthetic process, phosphorylation, sphingolipid metabolic process, 197 202 261 278 154 354 246 129 251 ENSG00000188459 chrX 47803296 47804789 + WASF4P processed_pseudogene 0 2 4 2 1 0 0 2 3 ENSG00000188460 chr1 223863726 223864851 - ACTBP11 processed_pseudogene 1 0 2 0 5 0 0 0 6 ENSG00000188467 chr15 48120972 48142672 + SLC24A5 protein_coding This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]. 283652 GO:0042470, GO:0032588, GO:0016021, GO:0005802, GO:0005802, melanosome, trans-Golgi network membrane, integral component of membrane, trans-Golgi network, trans-Golgi network, GO:0015293, GO:0008273, GO:0008273, GO:0008273, GO:0005515, GO:0005262, symporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, calcium, potassium:sodium antiporter activity, protein binding, calcium channel activity, GO:0098656, GO:0071805, GO:0070588, GO:0050896, GO:0048022, GO:0035725, GO:0034220, GO:0030318, GO:0006874, GO:0006811, anion transmembrane transport, potassium ion transmembrane transport, calcium ion transmembrane transport, response to stimulus, negative regulation of melanin biosynthetic process, sodium ion transmembrane transport, ion transmembrane transport, melanocyte differentiation, cellular calcium ion homeostasis, ion transport, 3 1 6 5 5 9 15 1 5 ENSG00000188483 chr9 129175552 129178262 - IER5L protein_coding 389792 40 56 94 89 148 81 42 46 77 ENSG00000188486 chr11 119093854 119095467 - H2AFX protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]. 3014 GO:0090734, GO:0070062, GO:0035861, GO:0016607, GO:0005813, GO:0005657, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0001741, GO:0001673, GO:0000794, GO:0000786, GO:0000785, GO:0000781, site of DNA damage, extracellular exosome, site of double-strand break, nuclear speck, centrosome, replication fork, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, XY body, male germ cell nucleus, condensed nuclear chromosome, nucleosome, chromatin, chromosome, telomeric region, GO:0046982, GO:0042393, GO:0019899, GO:0005515, GO:0003684, GO:0003677, GO:0003677, protein heterodimerization activity, histone binding, enzyme binding, protein binding, damaged DNA binding, DNA binding, DNA binding, GO:0090398, GO:0071480, GO:0051321, GO:0045739, GO:0021987, GO:0016032, GO:0010212, GO:0007283, GO:0006974, GO:0006974, GO:0006974, GO:0006342, GO:0006334, GO:0006303, GO:0006302, GO:0000724, GO:0000077, cellular senescence, cellular response to gamma radiation, meiotic cell cycle, positive regulation of DNA repair, cerebral cortex development, viral process, response to ionizing radiation, spermatogenesis, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, chromatin silencing, nucleosome assembly, double-strand break repair via nonhomologous end joining, double-strand break repair, double-strand break repair via homologous recombination, DNA damage checkpoint, 46 42 84 303 474 413 160 148 157 ENSG00000188487 chr11 15112424 15247208 + INSC protein_coding In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008]. 387755 GO:0045179, GO:0032991, GO:0032991, GO:0005938, GO:0005886, apical cortex, protein-containing complex, protein-containing complex, cell cortex, plasma membrane, GO:0030674, GO:0019904, GO:0008093, GO:0005515, protein-macromolecule adaptor activity, protein domain specific binding, cytoskeletal anchor activity, protein binding, GO:0045176, GO:0031647, GO:0030154, GO:0009786, GO:0008356, GO:0007399, GO:0000132, apical protein localization, regulation of protein stability, cell differentiation, regulation of asymmetric cell division, asymmetric cell division, nervous system development, establishment of mitotic spindle orientation, 7 2 9 1 22 14 4 10 1 ENSG00000188488 chr14 94561442 94593120 + SERPINA5 protein_coding The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]. 5104 GO:0097183, GO:0097182, GO:0097181, GO:0070062, GO:0070062, GO:0062023, GO:0036030, GO:0036029, GO:0036028, GO:0036027, GO:0036026, GO:0036025, GO:0036024, GO:0032991, GO:0031094, GO:0031091, GO:0016020, GO:0009897, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0002080, protein C inhibitor-coagulation factor XI complex, protein C inhibitor-coagulation factor Xa complex, protein C inhibitor-coagulation factor V complex, extracellular exosome, extracellular exosome, collagen-containing extracellular matrix, protein C inhibitor-plasma kallikrein complex, protein C inhibitor-KLK3 complex, protein C inhibitor-thrombin complex, protein C inhibitor-PLAU complex, protein C inhibitor-PLAT complex, protein C inhibitor-TMPRSS11E complex, protein C inhibitor-TMPRSS7 complex, protein-containing complex, platelet dense tubular network, platelet alpha granule, membrane, external side of plasma membrane, extracellular space, extracellular space, extracellular region, extracellular region, acrosomal membrane, GO:0032190, GO:0031210, GO:0008201, GO:0005539, GO:0005515, GO:0004867, GO:0004867, GO:0002020, GO:0001972, acrosin binding, phosphatidylcholine binding, heparin binding, glycosaminoglycan binding, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, retinoic acid binding, GO:0061107, GO:0051346, GO:0010951, GO:0007596, GO:0007342, GO:0007283, GO:0006869, seminal vesicle development, negative regulation of hydrolase activity, negative regulation of endopeptidase activity, blood coagulation, fusion of sperm to egg plasma membrane involved in single fertilization, spermatogenesis, lipid transport, 0 0 0 2 0 0 0 0 0 ENSG00000188493 chr19 40740856 40751553 - C19orf54 protein_coding 284325 61 55 68 121 79 66 102 94 65 ENSG00000188501 chr15 66547179 66565979 - LCTL protein_coding This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 197021 GO:0016021, GO:0005903, GO:0005789, GO:0005783, integral component of membrane, brush border, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0008422, beta-glucosidase activity, GO:0050896, GO:0007601, GO:0005975, GO:0002089, response to stimulus, visual perception, carbohydrate metabolic process, lens morphogenesis in camera-type eye, 0 7 10 4 3 10 1 7 2 ENSG00000188505 chr19 39196961 39201884 + NCCRP1 protein_coding 342897 GO:0070062, GO:0019005, GO:0005737, GO:0005737, extracellular exosome, SCF ubiquitin ligase complex, cytoplasm, cytoplasm, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0031146, GO:0030433, GO:0016567, GO:0008284, GO:0006516, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent ERAD pathway, protein ubiquitination, positive regulation of cell population proliferation, glycoprotein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000188508 chr19 35487324 35495558 - KRTDAP protein_coding This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 388533 GO:0042599, GO:0005615, GO:0005615, lamellar body, extracellular space, extracellular space, GO:0003674, molecular_function, GO:0030154, GO:0008544, GO:0008150, cell differentiation, epidermis development, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000188511 chr22 49414524 49657542 - C22orf34 lincRNA 348645 46 54 41 33 28 33 62 38 33 ENSG00000188512 chr8 33969567 33969879 - AF279873.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000188517 chr4 108808725 109302752 - COL25A1 protein_coding This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 84570 GO:0062023, GO:0062023, GO:0016021, GO:0005887, GO:0005886, GO:0005788, GO:0005615, GO:0005615, GO:0005581, GO:0005576, GO:0005576, collagen-containing extracellular matrix, collagen-containing extracellular matrix, integral component of membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular space, collagen trimer, extracellular region, extracellular region, GO:0030020, GO:0008201, GO:0001540, extracellular matrix structural constituent conferring tensile strength, heparin binding, amyloid-beta binding, GO:0060385, axonogenesis involved in innervation, 0 0 0 0 0 1 0 0 0 ENSG00000188522 chr17 18968789 19004804 - FAM83G protein_coding 644815 GO:0005829, GO:0005829, GO:0005634, GO:0005634, cytosol, cytosol, nucleus, nucleus, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:0030509, GO:0030509, GO:0007165, BMP signaling pathway, BMP signaling pathway, signal transduction, 6 7 13 40 10 32 27 5 7 ENSG00000188523 chr9 132410043 132573317 + CFAP77 protein_coding 389799 GO:0005929, cilium, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000188525 chr2 10003158 10006030 - AC010969.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000188529 chr1 23964804 23980927 - SRSF10 protein_coding This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein interacts with the oncoprotein TLS, and abrogates the influence of TLS on adenovirus E1A pre-mRNA splicing. This gene has pseudogenes on chromosomes 4, 9, 14, 18, and 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 10772 GO:0016607, GO:0016607, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, nuclear speck, nuclear speck, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0051082, GO:0050733, GO:0005515, GO:0003723, GO:0003723, GO:0003723, GO:0003723, unfolded protein binding, RS domain binding, protein binding, RNA binding, RNA binding, RNA binding, RNA binding, GO:0048025, GO:0048024, GO:0045292, GO:0016482, GO:0006376, GO:0006355, GO:0000398, GO:0000381, GO:0000375, GO:0000244, negative regulation of mRNA splicing, via spliceosome, regulation of mRNA splicing, via spliceosome, mRNA cis splicing, via spliceosome, cytosolic transport, mRNA splice site selection, regulation of transcription, DNA-templated, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, spliceosomal tri-snRNP complex assembly, 554 514 687 780 634 719 745 459 546 ENSG00000188536 chr16 172876 173710 + HBA2 protein_coding The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]. 3040 GO:0072562, GO:0071682, GO:0070062, GO:0031838, GO:0031838, GO:0022627, GO:0016020, GO:0005833, GO:0005833, GO:0005833, GO:0005829, GO:0005615, GO:0005576, blood microparticle, endocytic vesicle lumen, extracellular exosome, haptoglobin-hemoglobin complex, haptoglobin-hemoglobin complex, cytosolic small ribosomal subunit, membrane, hemoglobin complex, hemoglobin complex, hemoglobin complex, cytosol, extracellular space, extracellular region, GO:0043177, GO:0031720, GO:0031720, GO:0020037, GO:0019825, GO:0005515, GO:0005506, GO:0005344, GO:0004601, GO:0004601, organic acid binding, haptoglobin binding, haptoglobin binding, heme binding, oxygen binding, protein binding, iron ion binding, oxygen carrier activity, peroxidase activity, peroxidase activity, GO:0098869, GO:0042744, GO:0042744, GO:0042542, GO:0015701, GO:0015671, GO:0010942, GO:0006898, cellular oxidant detoxification, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, response to hydrogen peroxide, bicarbonate transport, oxygen transport, positive regulation of cell death, receptor-mediated endocytosis, 207 59 57 2144 125 240 797 45 169 ENSG00000188542 chr2 240560054 240564014 + DUSP28 protein_coding 285193 GO:0106307, GO:0106306, GO:0016791, GO:0008138, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein tyrosine phosphatase activity, GO:0035335, GO:0016311, peptidyl-tyrosine dephosphorylation, dephosphorylation, 57 54 78 94 70 94 99 73 68 ENSG00000188549 chr15 40331452 40340967 - CCDC9B protein_coding 388115 GO:0003723, RNA binding, 30 46 37 25 67 85 61 50 62 ENSG00000188554 chr17 43170481 43211689 + NBR1 protein_coding The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 4077 GO:0043235, GO:0043231, GO:0031430, GO:0016604, GO:0016020, GO:0005829, GO:0005776, GO:0005770, GO:0005764, GO:0005758, GO:0005739, GO:0005654, GO:0000407, receptor complex, intracellular membrane-bounded organelle, M band, nuclear body, membrane, cytosol, autophagosome, late endosome, lysosome, mitochondrial intermembrane space, mitochondrion, nucleoplasm, phagophore assembly site, GO:0051019, GO:0043130, GO:0043130, GO:0008270, GO:0005515, mitogen-activated protein kinase binding, ubiquitin binding, ubiquitin binding, zinc ion binding, protein binding, GO:0045668, GO:0032872, GO:0030500, GO:0016236, GO:0016236, negative regulation of osteoblast differentiation, regulation of stress-activated MAPK cascade, regulation of bone mineralization, macroautophagy, macroautophagy, 2312 2423 2671 866 1494 1196 989 1197 1100 ENSG00000188558 chr1 248508073 248527337 + OR2G6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391211 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000188559 chr20 20389552 20712488 - RALGAPA2 protein_coding 57186 GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005615, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, extracellular space, GO:0046982, GO:0005096, GO:0005096, protein heterodimerization activity, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0051056, activation of GTPase activity, regulation of small GTPase mediated signal transduction, 1573 1494 2024 1170 1509 1569 1265 1095 1338 ENSG00000188566 chr9 137205685 137217009 + NDOR1 protein_coding This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. 27158 GO:0048471, GO:0045111, GO:0005829, GO:0005829, GO:0005737, GO:0005654, perinuclear region of cytoplasm, intermediate filament cytoskeleton, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0050661, GO:0050660, GO:0050660, GO:0016709, GO:0016491, GO:0016491, GO:0010181, GO:0010181, GO:0005515, GO:0003958, NADP binding, flavin adenine dinucleotide binding, flavin adenine dinucleotide binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, oxidoreductase activity, FMN binding, FMN binding, protein binding, NADPH-hemoprotein reductase activity, GO:0055114, GO:0036245, GO:0016226, GO:0008219, oxidation-reduction process, cellular response to menadione, iron-sulfur cluster assembly, cell death, 191 230 269 299 388 359 263 282 312 ENSG00000188573 chr5 168529116 168530634 + FBLL1 protein_coding 345630 GO:0032040, GO:0031428, GO:0015030, GO:0005654, GO:0001650, small-subunit processome, box C/D snoRNP complex, Cajal body, nucleoplasm, fibrillar center, GO:1990259, GO:0008649, GO:0003723, histone-glutamine methyltransferase activity, rRNA methyltransferase activity, RNA binding, GO:1990258, GO:0031167, GO:0001835, GO:0000494, histone glutamine methylation, rRNA methylation, blastocyst hatching, box C/D snoRNA 3'-end processing, 0 0 0 0 0 0 3 0 0 ENSG00000188580 chr6 123804141 124825657 + NKAIN2 protein_coding This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. 154215 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0002028, regulation of sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000188581 chr17 41040559 41041461 - KRTAP1-1 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 81851 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, GO:0008150, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000188582 chr3 142949164 142963682 - PAQR9 protein_coding 344838 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0038023, GO:0005496, signaling receptor activity, steroid binding, 0 0 0 0 0 0 0 0 0 ENSG00000188585 chr1 178479247 178499634 - CLEC20A protein_coding 400797 GO:0030246, carbohydrate binding, 0 0 0 1 0 1 0 0 0 ENSG00000188596 chr12 96489571 96875555 + CFAP54 protein_coding 144535 GO:0005930, axoneme, GO:0060294, GO:0060271, GO:0060271, GO:0030154, GO:0007283, cilium movement involved in cell motility, cilium assembly, cilium assembly, cell differentiation, spermatogenesis, 37 36 34 24 35 40 36 19 45 ENSG00000188599 chr16 15104312 15123498 - NPIPP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 1 1 2 1 ENSG00000188603 chr16 28474111 28495575 - CLN3 protein_coding This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 1201 GO:0055037, GO:0045121, GO:0045121, GO:0044754, GO:0043005, GO:0031902, GO:0031901, GO:0030176, GO:0016021, GO:0008021, GO:0005901, GO:0005901, GO:0005886, GO:0005886, GO:0005829, GO:0005802, GO:0005795, GO:0005794, GO:0005794, GO:0005783, GO:0005776, GO:0005773, GO:0005770, GO:0005770, GO:0005770, GO:0005769, GO:0005765, GO:0005765, GO:0005765, GO:0005764, GO:0005764, GO:0005764, GO:0005737, GO:0005634, GO:0000139, recycling endosome, membrane raft, membrane raft, autolysosome, neuron projection, late endosome membrane, early endosome membrane, integral component of endoplasmic reticulum membrane, integral component of membrane, synaptic vesicle, caveola, caveola, plasma membrane, plasma membrane, cytosol, trans-Golgi network, Golgi stack, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, autophagosome, vacuole, late endosome, late endosome, late endosome, early endosome, lysosomal membrane, lysosomal membrane, lysosomal membrane, lysosome, lysosome, lysosome, cytoplasm, nucleus, Golgi membrane, GO:0120146, GO:0051861, GO:0005515, sulfatide binding, glycolipid binding, protein binding, GO:2001288, GO:1905244, GO:1905162, GO:1905146, GO:1903076, GO:1901096, GO:1900079, GO:0106049, GO:0097352, GO:0090385, GO:0090384, GO:0090160, GO:0070613, GO:0061909, GO:0061024, GO:0051966, GO:0051493, GO:0051480, GO:0051453, GO:0050885, GO:0048549, GO:0048172, GO:0047496, GO:0046836, GO:0046474, GO:0045861, GO:0044857, GO:0043524, GO:0043086, GO:0043066, GO:0043066, GO:0042998, GO:0042987, GO:0042133, GO:0036359, GO:0035752, GO:0035235, GO:0032228, GO:0016485, GO:0015809, GO:0015809, GO:0010762, GO:0009992, GO:0008306, GO:0007611, GO:0007042, GO:0007042, GO:0007040, GO:0007040, GO:0006898, GO:0001508, positive regulation of caveolin-mediated endocytosis, regulation of modification of synaptic structure, regulation of phagosome maturation, lysosomal protein catabolic process, regulation of protein localization to plasma membrane, regulation of autophagosome maturation, regulation of arginine biosynthetic process, regulation of cellular response to osmotic stress, autophagosome maturation, phagosome-lysosome fusion, phagosome-lysosome docking, Golgi to lysosome transport, regulation of protein processing, autophagosome-lysosome fusion, membrane organization, regulation of synaptic transmission, glutamatergic, regulation of cytoskeleton organization, regulation of cytosolic calcium ion concentration, regulation of intracellular pH, neuromuscular process controlling balance, positive regulation of pinocytosis, regulation of short-term neuronal synaptic plasticity, vesicle transport along microtubule, glycolipid transport, glycerophospholipid biosynthetic process, negative regulation of proteolysis, plasma membrane raft organization, negative regulation of neuron apoptotic process, negative regulation of catalytic activity, negative regulation of apoptotic process, negative regulation of apoptotic process, positive regulation of Golgi to plasma membrane protein transport, amyloid precursor protein catabolic process, neurotransmitter metabolic process, renal potassium excretion, lysosomal lumen pH elevation, ionotropic glutamate receptor signaling pathway, regulation of synaptic transmission, GABAergic, protein processing, arginine transport, arginine transport, regulation of fibroblast migration, cellular water homeostasis, associative learning, learning or memory, lysosomal lumen acidification, lysosomal lumen acidification, lysosome organization, lysosome organization, receptor-mediated endocytosis, action potential, 2816 3030 3887 973 1461 1274 1163 1072 1009 ENSG00000188610 chr1 121167646 121185539 - FAM72B protein_coding 653820 GO:0043231, GO:0016020, GO:0005829, GO:0005829, intracellular membrane-bounded organelle, membrane, cytosol, cytosol, 3 4 3 2 6 0 1 2 0 ENSG00000188611 chr10 50182778 50248610 - ASAH2 protein_coding Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]. 56624 GO:0070062, GO:0045121, GO:0005901, GO:0005887, GO:0005886, GO:0005794, GO:0005739, GO:0005576, GO:0000139, extracellular exosome, membrane raft, caveola, integral component of plasma membrane, plasma membrane, Golgi apparatus, mitochondrion, extracellular region, Golgi membrane, GO:0102121, GO:0017040, GO:0017040, GO:0017040, GO:0008270, GO:0005509, ceramidase activity, N-acylsphingosine amidohydrolase activity, N-acylsphingosine amidohydrolase activity, N-acylsphingosine amidohydrolase activity, zinc ion binding, calcium ion binding, GO:2001234, GO:0071345, GO:0046514, GO:0046514, GO:0046514, GO:0046513, GO:0046513, GO:0046512, GO:0046512, GO:0044241, GO:0042759, GO:0007346, GO:0006915, GO:0006672, GO:0006670, GO:0006670, negative regulation of apoptotic signaling pathway, cellular response to cytokine stimulus, ceramide catabolic process, ceramide catabolic process, ceramide catabolic process, ceramide biosynthetic process, ceramide biosynthetic process, sphingosine biosynthetic process, sphingosine biosynthetic process, lipid digestion, long-chain fatty acid biosynthetic process, regulation of mitotic cell cycle, apoptotic process, ceramide metabolic process, sphingosine metabolic process, sphingosine metabolic process, 0 0 3 8 0 0 0 0 4 ENSG00000188612 chr17 75165586 75182983 - SUMO2 protein_coding This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 6613 GO:0016605, GO:0005654, GO:0005634, GO:0005634, PML body, nucleoplasm, nucleus, nucleus, GO:0044389, GO:0031625, GO:0031386, GO:0005515, GO:0003723, ubiquitin-like protein ligase binding, ubiquitin protein ligase binding, protein tag, protein binding, RNA binding, GO:0032436, GO:0016925, GO:0016925, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, protein sumoylation, protein sumoylation, 340 245 419 252 256 296 268 261 249 ENSG00000188613 chr10 119029716 119033732 + NANOS1 protein_coding This gene encodes a CCHC-type zinc finger protein that is a member of the nanos family. This protein co-localizes with the RNA-binding protein pumilio RNA-binding family member 2 and may be involved in regulating translation as a post-transcriptional repressor. Mutations in this gene are associated with spermatogenic impairment. [provided by RefSeq, Sep 2015]. 340719 GO:0048471, GO:0048471, GO:0005737, perinuclear region of cytoplasm, perinuclear region of cytoplasm, cytoplasm, GO:0030371, GO:0008270, GO:0005515, GO:0003729, translation repressor activity, zinc ion binding, protein binding, mRNA binding, GO:1900153, GO:0098749, GO:0048477, GO:0017148, GO:0017148, GO:0016477, GO:0010631, GO:0010608, GO:0001894, GO:0001558, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, cerebellar neuron development, oogenesis, negative regulation of translation, negative regulation of translation, cell migration, epithelial cell migration, posttranscriptional regulation of gene expression, tissue homeostasis, regulation of cell growth, 1 0 8 0 0 0 0 0 0 ENSG00000188620 chr10 123135962 123137741 + HMX3 protein_coding 340784 GO:0005634, GO:0000785, nucleus, chromatin, GO:0000981, GO:0000981, GO:0000977, GO:0000977, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0060135, GO:0050885, GO:0042472, GO:0030154, GO:0007566, GO:0007420, GO:0006357, GO:0006357, maternal process involved in female pregnancy, neuromuscular process controlling balance, inner ear morphogenesis, cell differentiation, embryo implantation, brain development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 3 0 0 0 0 2 ENSG00000188624 chr19 46120071 46124674 - IGFL3 protein_coding IGFL3 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]. 388555 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0005102, GO:0005102, signaling receptor binding, signaling receptor binding, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000188626 chr15 28701954 28738384 - GOLGA8M protein_coding 653720 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 1 0 0 0 2 0 ENSG00000188629 chr19 9363020 9382617 + ZNF177 protein_coding 7730 GO:0072562, GO:0000785, blood microparticle, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000188636 chr22 44492572 44498298 - RTL6 protein_coding 84247 43 33 86 62 28 95 42 35 70 ENSG00000188641 chr1 97077743 97995000 - DPYD protein_coding The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. 1806 GO:0005829, GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytosol, cytoplasm, GO:0051539, GO:0051536, GO:0050661, GO:0050661, GO:0050660, GO:0046872, GO:0042803, GO:0042803, GO:0017113, GO:0017113, GO:0017113, GO:0017113, GO:0005515, GO:0002058, 4 iron, 4 sulfur cluster binding, iron-sulfur cluster binding, NADP binding, NADP binding, flavin adenine dinucleotide binding, metal ion binding, protein homodimerization activity, protein homodimerization activity, dihydropyrimidine dehydrogenase (NADP+) activity, dihydropyrimidine dehydrogenase (NADP+) activity, dihydropyrimidine dehydrogenase (NADP+) activity, dihydropyrimidine dehydrogenase (NADP+) activity, protein binding, uracil binding, GO:0055114, GO:0046135, GO:0019483, GO:0006214, GO:0006212, GO:0006212, GO:0006210, GO:0006210, GO:0006208, GO:0006208, GO:0006145, oxidation-reduction process, pyrimidine nucleoside catabolic process, beta-alanine biosynthetic process, thymidine catabolic process, uracil catabolic process, uracil catabolic process, thymine catabolic process, thymine catabolic process, pyrimidine nucleobase catabolic process, pyrimidine nucleobase catabolic process, purine nucleobase catabolic process, 1226 1161 1433 646 808 911 781 772 853 ENSG00000188643 chr1 153606886 153613145 - S100A16 protein_coding 140576 GO:0070062, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005634, GO:0005615, GO:0005615, extracellular exosome, plasma membrane, cytosol, cytoplasm, nucleolus, nucleus, extracellular space, extracellular space, GO:0048306, GO:0042803, GO:0005515, GO:0005509, GO:0005509, GO:0003723, calcium-dependent protein binding, protein homodimerization activity, protein binding, calcium ion binding, calcium ion binding, RNA binding, GO:0051592, response to calcium ion, 0 0 0 0 0 0 0 0 0 ENSG00000188646 chr12 74663774 74664141 - AC123904.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188647 chr9 69709522 69759959 - PTAR1 protein_coding 375743 GO:0005737, cytoplasm, GO:0008318, protein prenyltransferase activity, GO:0018342, protein prenylation, 746 737 1013 623 875 823 683 679 791 ENSG00000188649 chr10 95907603 96032684 + CC2D2B protein_coding 387707 60 40 56 53 34 27 50 30 37 ENSG00000188655 chr14 20556093 20560931 - RNASE9 protein_coding 390443 GO:0005576, extracellular region, GO:0004540, GO:0003676, ribonuclease activity, nucleic acid binding, GO:0090501, RNA phosphodiester bond hydrolysis, 0 0 0 0 0 0 0 0 0 ENSG00000188656 chrY 9378122 9380871 + TSPY7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188659 chr15 82262810 82284930 + SAXO2 protein_coding 283726 GO:0036126, GO:0036064, GO:0005879, GO:0005856, GO:0005814, GO:0005634, sperm flagellum, ciliary basal body, axonemal microtubule, cytoskeleton, centriole, nucleus, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:0034453, microtubule anchoring, 0 0 0 1 0 0 4 2 6 ENSG00000188660 chr21 43446601 43453893 + LINC00319 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000188662 chr17 50171428 50181178 - HILS1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 15 ENSG00000188668 chr2 158874642 158875670 + OR7E90P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188672 chr1 25362249 25430192 - RHCE protein_coding The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]. 6006 GO:0005887, integral component of plasma membrane, GO:0008519, ammonium transmembrane transporter activity, GO:0072488, ammonium transmembrane transport, 18 15 10 6 9 25 11 33 15 ENSG00000188674 chr2 208165343 208190073 - C2orf80 protein_coding 389073 0 0 0 0 0 0 0 0 0 ENSG00000188676 chr8 39934614 40016391 + IDO2 protein_coding Along with the enzymes encoded by the INDO (MIM 147435) and TDO2 (MIM 191070) genes, the enzyme encoded by the INDOL1 gene metabolizes tryptophan in the kynurenine pathway (Ball et al., 2007 [PubMed 17499941]).[supplied by OMIM, Feb 2011]. 169355 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:0046872, GO:0033754, GO:0033754, GO:0033754, GO:0020037, GO:0004833, metal ion binding, indoleamine 2,3-dioxygenase activity, indoleamine 2,3-dioxygenase activity, indoleamine 2,3-dioxygenase activity, heme binding, tryptophan 2,3-dioxygenase activity, GO:0055114, GO:0034354, GO:0019441, GO:0019441, GO:0019441, GO:0019441, GO:0006569, GO:0002376, oxidation-reduction process, 'de novo' NAD biosynthetic process from tryptophan, tryptophan catabolic process to kynurenine, tryptophan catabolic process to kynurenine, tryptophan catabolic process to kynurenine, tryptophan catabolic process to kynurenine, tryptophan catabolic process, immune system process, 3 5 2 0 6 0 4 2 2 ENSG00000188677 chr22 43999211 44172949 + PARVB protein_coding This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 29780 GO:0030027, GO:0030027, GO:0030018, GO:0015629, GO:0005925, GO:0005925, GO:0005886, GO:0005829, GO:0005737, lamellipodium, lamellipodium, Z disc, actin cytoskeleton, focal adhesion, focal adhesion, plasma membrane, cytosol, cytoplasm, GO:0005515, GO:0003779, protein binding, actin binding, GO:0071963, GO:0034446, GO:0031532, GO:0031532, GO:0030032, GO:0030032, GO:0030031, GO:0030031, GO:0007163, establishment or maintenance of cell polarity regulating cell shape, substrate adhesion-dependent cell spreading, actin cytoskeleton reorganization, actin cytoskeleton reorganization, lamellipodium assembly, lamellipodium assembly, cell projection assembly, cell projection assembly, establishment or maintenance of cell polarity, 2 11 5 14 16 23 15 4 12 ENSG00000188681 chr21 9068361 9129752 - TEKT4P2 transcribed_unprocessed_pseudogene 100132288 0 0 0 0 0 0 0 0 0 ENSG00000188687 chr2 74216242 74343414 - SLC4A5 protein_coding This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. 57835 GO:0016324, GO:0016021, GO:0005886, GO:0005886, apical plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0022857, GO:0015301, GO:0008510, GO:0008510, GO:0005452, transmembrane transporter activity, anion:anion antiporter activity, sodium:bicarbonate symporter activity, sodium:bicarbonate symporter activity, inorganic anion exchanger activity, GO:0098656, GO:0060041, GO:0055085, GO:0051453, GO:0050801, GO:0048311, GO:0035725, GO:0033326, GO:0015701, GO:0015701, GO:0015701, GO:0015698, GO:0010468, GO:0003073, GO:0003014, GO:0002064, anion transmembrane transport, retina development in camera-type eye, transmembrane transport, regulation of intracellular pH, ion homeostasis, mitochondrion distribution, sodium ion transmembrane transport, cerebrospinal fluid secretion, bicarbonate transport, bicarbonate transport, bicarbonate transport, inorganic anion transport, regulation of gene expression, regulation of systemic arterial blood pressure, renal system process, epithelial cell development, 35 27 26 22 26 35 43 21 32 ENSG00000188690 chr10 125784980 125823285 - UROS protein_coding The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]. 7390 GO:0005829, GO:0005829, GO:0005739, cytosol, cytosol, mitochondrion, GO:0005542, GO:0004852, GO:0004852, GO:0004852, folic acid binding, uroporphyrinogen-III synthase activity, uroporphyrinogen-III synthase activity, uroporphyrinogen-III synthase activity, GO:0071418, GO:0071243, GO:0070541, GO:0046677, GO:0006783, GO:0006783, GO:0006783, GO:0006783, GO:0006782, GO:0006780, GO:0006780, cellular response to amine stimulus, cellular response to arsenic-containing substance, response to platinum ion, response to antibiotic, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, protoporphyrinogen IX biosynthetic process, uroporphyrinogen III biosynthetic process, uroporphyrinogen III biosynthetic process, 19 14 26 45 27 89 35 19 56 ENSG00000188691 chr11 5967177 5968494 - OR56A5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2009]. 390084 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000188693 chr7 92134604 92180725 + CYP51A1-AS1 antisense 613126 4 0 3 7 9 0 7 4 3 ENSG00000188694 chr21 30281309 30282958 - KRTAP24-1 protein_coding 643803 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005198, structural molecule activity, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000188706 chrX 129803288 129843909 - ZDHHC9 protein_coding This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifically palmitoylates HRAS and NRAS. Mutations in this gene are associated with X-linked cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, May 2010]. 51114 GO:0031228, GO:0016021, GO:0005829, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0002178, intrinsic component of Golgi membrane, integral component of membrane, cytosol, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, palmitoyltransferase complex, GO:0043849, GO:0019706, GO:0016409, GO:0005515, Ras palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, protein binding, GO:0018345, GO:0018230, GO:0018230, GO:0018230, GO:0006612, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 22 13 24 15 39 59 16 28 50 ENSG00000188707 chr7 150329789 150332721 + ZBED6CL protein_coding 113763 36 43 39 23 25 46 24 30 15 ENSG00000188710 chr9 130892702 130896812 - QRFP protein_coding This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. The encoded products are members of the RFamide family of neuropeptides, characterized by their common protein C-terminus consisting of an arginine (R) and an amidated phenylalanine (F). These products include the neuropeptides 26RFa and the N-terminally extended form, 43RFa. Both of these neuropeptides bind to the pyroglutamylated RFamide peptide receptor (QRFPR) and may regulate blood pressure, reproduction and food intake in rodents. [provided by RefSeq, Jul 2015]. 347148 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0031854, GO:0031854, GO:0005184, GO:0005184, orexigenic neuropeptide QRFP receptor binding, orexigenic neuropeptide QRFP receptor binding, neuropeptide hormone activity, neuropeptide hormone activity, GO:0060259, GO:0045777, GO:0007626, GO:0007625, GO:0007610, GO:0007218, GO:0007218, GO:0007186, regulation of feeding behavior, positive regulation of blood pressure, locomotory behavior, grooming behavior, behavior, neuropeptide signaling pathway, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 1 0 0 0 0 0 2 2 0 ENSG00000188712 chr9 104722335 104723271 + OR13D3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000188716 chr10 75037836 75058514 - DUPD1 protein_coding 338599 GO:0032991, GO:0005737, GO:0005634, protein-containing complex, cytoplasm, nucleus, GO:0106307, GO:0106306, GO:0042803, GO:0033549, GO:0008138, GO:0005515, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, protein homodimerization activity, MAP kinase phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, GO:0070373, GO:0042692, GO:0035335, GO:0006470, GO:0000188, negative regulation of ERK1 and ERK2 cascade, muscle cell differentiation, peptidyl-tyrosine dephosphorylation, protein dephosphorylation, inactivation of MAPK activity, 0 0 0 1 0 0 0 0 0 ENSG00000188725 chr5 61157709 61162474 - SMIM15 protein_coding 643155 GO:0016021, integral component of membrane, 37 34 64 30 26 34 33 14 20 ENSG00000188729 chr3 191199241 191265615 + OSTN protein_coding 344901 GO:0005615, extracellular space, GO:0005179, GO:0005102, hormone activity, signaling receptor binding, GO:1903860, GO:0046325, GO:0045668, GO:0009755, GO:0007166, GO:0003416, negative regulation of dendrite extension, negative regulation of glucose import, negative regulation of osteoblast differentiation, hormone-mediated signaling pathway, cell surface receptor signaling pathway, endochondral bone growth, 0 0 0 0 0 0 0 0 0 ENSG00000188730 chr7 49773661 49921950 + VWC2 protein_coding This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]. 375567 GO:0045202, GO:0032281, GO:0005615, GO:0005615, GO:0005614, GO:0005604, synapse, AMPA glutamate receptor complex, extracellular space, extracellular space, interstitial matrix, basement membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0045666, GO:0030514, GO:0030514, GO:0010811, positive regulation of neuron differentiation, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, positive regulation of cell-substrate adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000188732 chr7 23680130 23703249 + FAM221A protein_coding 340277 GO:0005515, protein binding, 3 8 6 7 2 10 8 0 4 ENSG00000188735 chr12 121712752 121783001 + TMEM120B protein_coding 144404 GO:0016021, GO:0016020, GO:0005637, GO:0005637, GO:0005575, integral component of membrane, membrane, nuclear inner membrane, nuclear inner membrane, cellular_component, GO:0005515, GO:0005216, GO:0003674, protein binding, ion channel activity, molecular_function, GO:0051291, GO:0045444, GO:0045444, GO:0034220, GO:0008150, protein heterooligomerization, fat cell differentiation, fat cell differentiation, ion transmembrane transport, biological_process, 549 603 796 236 282 370 243 200 307 ENSG00000188738 chr2 185738895 185833290 + FSIP2 protein_coding This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]. 401024 GO:0097229, GO:0097228, GO:0097225, GO:0097224, sperm end piece, sperm principal piece, sperm midpiece, sperm connecting piece, GO:0003674, molecular_function, GO:0061512, GO:0030317, GO:0007288, protein localization to cilium, flagellated sperm motility, sperm axoneme assembly, 0 0 5 3 0 3 6 0 2 ENSG00000188739 chr1 235131183 235161457 - RBM34 protein_coding This gene encodes a member of the RNA-binding motif family of RNA recognition motif proteins. The encoded protein contains an RNA-binding domain made up of two RNA recognition motif subdomains referred to as RNA recognition motif-1 and RNA recognition motif-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. 23029 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0003723, RNA binding, 5 5 5 14 3 7 10 6 12 ENSG00000188747 chr9 137423350 137434406 + NOXA1 protein_coding This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 10811 GO:0043020, GO:0005829, GO:0005829, NADPH oxidase complex, cytosol, cytosol, GO:0031267, GO:0031267, GO:0019899, GO:0017124, GO:0016176, GO:0016176, GO:0016176, GO:0005515, small GTPase binding, small GTPase binding, enzyme binding, SH3 domain binding, superoxide-generating NADPH oxidase activator activity, superoxide-generating NADPH oxidase activator activity, superoxide-generating NADPH oxidase activator activity, protein binding, GO:0060263, GO:0043085, GO:0042554, GO:0010310, GO:0006801, regulation of respiratory burst, positive regulation of catalytic activity, superoxide anion generation, regulation of hydrogen peroxide metabolic process, superoxide metabolic process, 4 7 3 18 2 22 7 4 12 ENSG00000188755 chr17 62264705 62275655 - TBC1D3P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188760 chr2 219543663 219550595 + TMEM198 protein_coding 130612 GO:0031410, GO:0031410, GO:0016021, GO:0005886, GO:0005886, cytoplasmic vesicle, cytoplasmic vesicle, integral component of membrane, plasma membrane, plasma membrane, GO:0090263, GO:0090263, GO:0016055, GO:0007275, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, Wnt signaling pathway, multicellular organism development, 0 0 0 3 1 0 2 0 3 ENSG00000188761 chr1 113878168 113887547 - BCL2L15 protein_coding 440603 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, protein binding, GO:0042981, GO:0006915, regulation of apoptotic process, apoptotic process, 4 0 9 6 16 0 6 3 4 ENSG00000188763 chr7 73433783 73436120 + FZD9 protein_coding Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]. 8326 GO:0098978, GO:0098794, GO:0048471, GO:0031966, GO:0031527, GO:0016021, GO:0009986, GO:0005886, GO:0005886, GO:0005794, GO:0005789, GO:0005737, glutamatergic synapse, postsynapse, perinuclear region of cytoplasm, mitochondrial membrane, filopodium membrane, integral component of membrane, cell surface, plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, cytoplasm, GO:0046982, GO:0042813, GO:0042813, GO:0042803, GO:0017147, GO:0017147, GO:0004930, protein heterodimerization activity, Wnt-activated receptor activity, Wnt-activated receptor activity, protein homodimerization activity, Wnt-protein binding, Wnt-protein binding, G protein-coupled receptor activity, GO:2000179, GO:1990523, GO:1904394, GO:1904393, GO:1901029, GO:0099566, GO:0099173, GO:0090263, GO:0071157, GO:0060546, GO:0060070, GO:0051902, GO:0051480, GO:0043524, GO:0043524, GO:0043065, GO:0035567, GO:0030501, GO:0030183, GO:0007611, GO:0007405, GO:0007399, GO:0007186, GO:0001836, GO:0001503, positive regulation of neural precursor cell proliferation, bone regeneration, negative regulation of skeletal muscle acetylcholine-gated channel clustering, regulation of skeletal muscle acetylcholine-gated channel clustering, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, regulation of postsynaptic cytosolic calcium ion concentration, postsynapse organization, positive regulation of canonical Wnt signaling pathway, negative regulation of cell cycle arrest, negative regulation of necroptotic process, canonical Wnt signaling pathway, negative regulation of mitochondrial depolarization, regulation of cytosolic calcium ion concentration, negative regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, positive regulation of apoptotic process, non-canonical Wnt signaling pathway, positive regulation of bone mineralization, B cell differentiation, learning or memory, neuroblast proliferation, nervous system development, G protein-coupled receptor signaling pathway, release of cytochrome c from mitochondria, ossification, 0 0 1 2 0 0 2 2 3 ENSG00000188765 chr2 3617548 3617757 - TMSB4XP2 unprocessed_pseudogene 1 0 0 0 0 0 1 0 0 ENSG00000188766 chr19 38388421 38399587 + SPRED3 protein_coding This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. 399473 GO:0005886, plasma membrane, GO:0019901, protein kinase binding, GO:1902747, GO:0090311, GO:0070373, GO:0043517, GO:0030512, GO:0010801, GO:0010719, GO:0007275, GO:0000188, negative regulation of lens fiber cell differentiation, regulation of protein deacetylation, negative regulation of ERK1 and ERK2 cascade, positive regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of peptidyl-threonine phosphorylation, negative regulation of epithelial to mesenchymal transition, multicellular organism development, inactivation of MAPK activity, 1 5 3 11 10 23 23 20 9 ENSG00000188770 chr1 203494143 203508864 + OPTC protein_coding Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]. 26254 GO:0031012, GO:0005576, extracellular matrix, extracellular region, GO:0005201, extracellular matrix structural constituent, GO:0030199, collagen fibril organization, 0 0 0 0 0 0 0 0 0 ENSG00000188771 chr11 112248479 112260860 - PLET1 protein_coding 349633 GO:0031225, GO:0016324, GO:0016324, GO:0009897, GO:0005886, GO:0005576, anchored component of membrane, apical plasma membrane, apical plasma membrane, external side of plasma membrane, plasma membrane, extracellular region, GO:0035313, GO:0035313, GO:0030335, GO:0030335, GO:0030154, GO:0001953, GO:0001953, wound healing, spreading of epidermal cells, wound healing, spreading of epidermal cells, positive regulation of cell migration, positive regulation of cell migration, cell differentiation, negative regulation of cell-matrix adhesion, negative regulation of cell-matrix adhesion, 8 4 3 2 18 10 1 10 5 ENSG00000188778 chr8 37962991 37966965 - ADRB3 protein_coding The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certain polymorphisms in three subtypes of beta-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019]. 155 GO:0043235, GO:0005887, GO:0005886, receptor complex, integral component of plasma membrane, plasma membrane, GO:0051380, GO:0051379, GO:0042803, GO:0015052, GO:0015052, GO:0005515, GO:0004939, GO:0004930, norepinephrine binding, epinephrine binding, protein homodimerization activity, beta3-adrenergic receptor activity, beta3-adrenergic receptor activity, protein binding, beta-adrenergic receptor activity, G protein-coupled receptor activity, GO:0120162, GO:0071880, GO:0043410, GO:0007190, GO:0007188, GO:0007187, GO:0007186, GO:0006898, GO:0006112, GO:0006091, GO:0005975, GO:0002032, GO:0002025, positive regulation of cold-induced thermogenesis, adenylate cyclase-activating adrenergic receptor signaling pathway, positive regulation of MAPK cascade, activation of adenylate cyclase activity, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, receptor-mediated endocytosis, energy reserve metabolic process, generation of precursor metabolites and energy, carbohydrate metabolic process, desensitization of G protein-coupled receptor signaling pathway by arrestin, norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure, 0 0 0 0 0 0 0 0 0 ENSG00000188779 chr15 67819704 67834561 + SKOR1 protein_coding 390598 GO:0043025, GO:0030425, GO:0005667, GO:0005634, GO:0005634, neuronal cell body, dendrite, transcription regulator complex, nucleus, nucleus, GO:1990837, GO:0046332, GO:0046332, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, SMAD binding, SMAD binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030514, GO:0030514, GO:0006355, GO:0000122, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 2 0 3 4 5 0 4 0 2 ENSG00000188782 chr1 26190561 26202968 + CATSPER4 protein_coding 378807 GO:0097228, GO:0036128, GO:0036128, GO:0005886, GO:0001669, sperm principal piece, CatSper complex, CatSper complex, plasma membrane, acrosomal vesicle, GO:0005515, GO:0005245, GO:0005227, protein binding, voltage-gated calcium channel activity, calcium activated cation channel activity, GO:0070588, GO:0048240, GO:0035036, GO:0034765, GO:0032570, GO:0030317, GO:0007275, GO:0006814, calcium ion transmembrane transport, sperm capacitation, sperm-egg recognition, regulation of ion transmembrane transport, response to progesterone, flagellated sperm motility, multicellular organism development, sodium ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000188783 chr1 203475828 203491352 + PRELP protein_coding The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]. 5549 GO:1903561, GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0043202, GO:0031012, GO:0005796, GO:0005615, GO:0005576, GO:0005576, extracellular vesicle, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, lysosomal lumen, extracellular matrix, Golgi lumen, extracellular space, extracellular region, extracellular region, GO:0030021, GO:0030021, GO:0008201, GO:0005201, extracellular matrix structural constituent conferring compression resistance, extracellular matrix structural constituent conferring compression resistance, heparin binding, extracellular matrix structural constituent, GO:0042340, GO:0018146, GO:0007569, GO:0001501, keratan sulfate catabolic process, keratan sulfate biosynthetic process, cell aging, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000188784 chr1 19920009 19923617 - PLA2G2E protein_coding 30814 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0102568, GO:0102567, GO:0047498, GO:0047498, GO:0005543, GO:0005515, GO:0005509, GO:0005509, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, phospholipid binding, protein binding, calcium ion binding, calcium ion binding, GO:0050482, GO:0036152, GO:0036151, GO:0036150, GO:0036149, GO:0036148, GO:0034374, GO:0016042, GO:0006954, GO:0006654, GO:0006644, arachidonic acid secretion, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, low-density lipoprotein particle remodeling, lipid catabolic process, inflammatory response, phosphatidic acid biosynthetic process, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000188785 chr19 57389850 57402992 + ZNF548 protein_coding 147694 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 28 21 45 122 65 83 98 50 46 ENSG00000188786 chr1 37809567 37859620 - MTF1 protein_coding This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008]. 4520 GO:0005737, GO:0005654, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:1990837, GO:0046872, GO:0035035, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001228, GO:0000987, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, histone acetyltransferase binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990079, GO:0071294, GO:0046686, GO:0045944, GO:0045944, GO:0010038, GO:0007417, GO:0006979, GO:0006357, GO:0006351, cartilage homeostasis, cellular response to zinc ion, response to cadmium ion, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, response to metal ion, central nervous system development, response to oxidative stress, regulation of transcription by RNA polymerase II, transcription, DNA-templated, 2343 1610 3564 501 598 751 616 460 556 ENSG00000188800 chr1 40245947 40251691 + TMCO2 protein_coding 127391 GO:0016021, GO:0005634, integral component of membrane, nucleus, GO:0005515, protein binding, 0 0 0 0 1 0 0 0 0 ENSG00000188801 chr9 97198303 97199511 - ZNF322P1 processed_pseudogene 1 1 1 3 1 1 0 0 0 ENSG00000188803 chr17 11241263 11564063 + SHISA6 protein_coding 388336 GO:0098985, GO:0045211, GO:0032591, GO:0032281, GO:0014069, GO:0014069, asymmetric, glutamatergic, excitatory synapse, postsynaptic membrane, dendritic spine membrane, AMPA glutamate receptor complex, postsynaptic density, postsynaptic density, GO:0035255, GO:0030165, GO:0005515, ionotropic glutamate receptor binding, PDZ domain binding, protein binding, GO:2000311, GO:1904717, GO:0098976, GO:0090090, GO:0048172, GO:0016055, GO:0007283, regulation of AMPA receptor activity, regulation of AMPA glutamate receptor clustering, excitatory chemical synaptic transmission, negative regulation of canonical Wnt signaling pathway, regulation of short-term neuronal synaptic plasticity, Wnt signaling pathway, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000188807 chr1 9588922 9614873 + TMEM201 protein_coding 199953 GO:0031965, GO:0005737, GO:0005639, GO:0000922, nuclear membrane, cytoplasm, integral component of nuclear inner membrane, spindle pole, GO:0051015, GO:0005521, actin filament binding, lamin binding, GO:0030473, GO:0010761, nuclear migration along microtubule, fibroblast migration, 6 8 10 22 5 14 13 3 33 ENSG00000188811 chr13 39038306 39050109 + NHLRC3 protein_coding This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]. 387921 GO:0035578, GO:0005576, azurophil granule lumen, extracellular region, GO:0061630, ubiquitin protein ligase activity, GO:0043312, GO:0043161, GO:0000209, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, protein polyubiquitination, 31 30 63 104 34 79 71 31 64 ENSG00000188816 chr10 123148122 123150672 + HMX2 protein_coding The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]. 3167 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048026, GO:0042472, GO:0030154, GO:0008284, GO:0007420, GO:0006357, GO:0006357, positive regulation of mRNA splicing, via spliceosome, inner ear morphogenesis, cell differentiation, positive regulation of cell population proliferation, brain development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000188817 chr3 63652668 63679020 + SNTN protein_coding 132203 GO:0005929, cilium, GO:0048306, GO:0046914, GO:0005509, calcium-dependent protein binding, transition metal ion binding, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000188818 chr5 795606 850986 - ZDHHC11 protein_coding 79844 GO:0016021, GO:0010008, GO:0005794, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endosome membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0035591, GO:0019706, GO:0019706, GO:0005515, signaling adaptor activity, protein-cysteine S-palmitoyltransferase activity, protein-cysteine S-palmitoyltransferase activity, protein binding, GO:0140374, GO:0018230, GO:0018230, GO:0006612, GO:0002230, antiviral innate immune response, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, positive regulation of defense response to virus by host, 6 9 6 24 3 13 13 2 15 ENSG00000188820 chr6 116461370 116463779 + CALHM6 protein_coding 441168 GO:0005887, integral component of plasma membrane, GO:0005515, GO:0005261, protein binding, cation channel activity, GO:0098655, cation transmembrane transport, 16 32 48 4 31 10 3 27 9 ENSG00000188822 chr1 23870526 23913362 - CNR2 protein_coding The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008]. 1269 GO:0043204, GO:0031234, GO:0030425, GO:0005887, GO:0005886, GO:0005886, GO:0005783, GO:0005737, perikaryon, extrinsic component of cytoplasmic side of plasma membrane, dendrite, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, cytoplasm, GO:0005515, GO:0004949, GO:0004930, protein binding, cannabinoid receptor activity, G protein-coupled receptor activity, GO:0051001, GO:0050728, GO:0045759, GO:0038171, GO:0033004, GO:0032496, GO:0032229, GO:0030595, GO:0019233, GO:0019222, GO:0007189, GO:0007187, GO:0007186, GO:0006955, GO:0006954, GO:0001975, negative regulation of nitric-oxide synthase activity, negative regulation of inflammatory response, negative regulation of action potential, cannabinoid signaling pathway, negative regulation of mast cell activation, response to lipopolysaccharide, negative regulation of synaptic transmission, GABAergic, leukocyte chemotaxis, sensory perception of pain, regulation of metabolic process, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, immune response, inflammatory response, response to amphetamine, 96 83 194 13 12 29 8 18 16 ENSG00000188825 chr17 43369845 43389199 - LINC00910 lincRNA 39 53 68 39 52 33 48 52 37 ENSG00000188827 chr16 3581181 3611598 - SLX4 protein_coding This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]. 84464 GO:0070522, GO:0048476, GO:0033557, GO:0033557, GO:0033557, GO:0030054, GO:0005829, GO:0005654, GO:0005654, GO:0000785, GO:0000781, GO:0000781, ERCC4-ERCC1 complex, Holliday junction resolvase complex, Slx1-Slx4 complex, Slx1-Slx4 complex, Slx1-Slx4 complex, cell junction, cytosol, nucleoplasm, nucleoplasm, chromatin, chromosome, telomeric region, chromosome, telomeric region, GO:0048257, GO:0046872, GO:0019899, GO:0017108, GO:0008821, GO:0008047, GO:0005515, GO:0003677, 3'-flap endonuclease activity, metal ion binding, enzyme binding, 5'-flap endonuclease activity, crossover junction endodeoxyribonuclease activity, enzyme activator activity, protein binding, DNA binding, GO:1904431, GO:1904357, GO:0090656, GO:0090656, GO:0072429, GO:0061820, GO:0043085, GO:0036297, GO:0036297, GO:0010792, GO:0006289, GO:0006281, GO:0006260, GO:0000724, GO:0000712, GO:0000706, positive regulation of t-circle formation, negative regulation of telomere maintenance via telomere lengthening, t-circle formation, t-circle formation, response to intra-S DNA damage checkpoint signaling, telomeric D-loop disassembly, positive regulation of catalytic activity, interstrand cross-link repair, interstrand cross-link repair, DNA double-strand break processing involved in repair via single-strand annealing, nucleotide-excision repair, DNA repair, DNA replication, double-strand break repair via homologous recombination, resolution of meiotic recombination intermediates, meiotic DNA double-strand break processing, 86 81 122 74 104 116 92 69 75 ENSG00000188828 chrX 103707224 103728655 - GLRA4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000188831 chr14 36371165 36372383 + DPPA3P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188833 chr9 137434364 137441816 - ENTPD8 protein_coding 377841 GO:0016021, GO:0016020, GO:0005886, GO:0005886, integral component of membrane, membrane, plasma membrane, plasma membrane, GO:0102491, GO:0102490, GO:0102489, GO:0102488, GO:0102487, GO:0102486, GO:0102485, GO:0046872, GO:0045134, GO:0017111, GO:0017110, GO:0017110, GO:0005524, GO:0004382, dGTP phosphohydrolase activity, 8-oxo-dGTP phosphohydrolase activity, GTP phosphohydrolase activity, dTTP phosphohydrolase activity, dUTP phosphohydrolase activity, dCTP phosphohydrolase activity, dATP phosphohydrolase activity, metal ion binding, uridine-diphosphatase activity, nucleoside-triphosphatase activity, nucleoside-diphosphatase activity, nucleoside-diphosphatase activity, ATP binding, guanosine-diphosphatase activity, GO:0034656, GO:0009134, GO:0009133, GO:0009124, nucleobase-containing small molecule catabolic process, nucleoside diphosphate catabolic process, nucleoside diphosphate biosynthetic process, nucleoside monophosphate biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000188846 chr3 40457292 40468587 + RPL14 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 9045 GO:0070062, GO:0022625, GO:0022625, GO:0016020, GO:0014069, GO:0014069, GO:0005829, extracellular exosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, postsynaptic density, postsynaptic density, cytosol, GO:0045296, GO:0005515, GO:0003735, GO:0003723, GO:0003723, cadherin binding, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0042273, GO:0042273, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0000184, ribosomal large subunit biogenesis, ribosomal large subunit biogenesis, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 789 602 1108 1877 925 2105 1379 893 1469 ENSG00000188848 chr4 42110938 42152878 - BEND4 protein_coding 389206 5 4 3 3 2 0 3 2 4 ENSG00000188850 chr5 43336164 43348716 + AC114947.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188856 chr8 80558870 80559757 + RPSAP47 processed_pseudogene 0 0 0 0 2 0 1 0 0 ENSG00000188859 chr1 166057426 166166969 - FAM78B protein_coding 149297 0 0 0 0 0 0 0 0 0 ENSG00000188868 chr19 12317477 12333720 - ZNF563 protein_coding 147837 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 2 1 9 6 9 8 6 3 ENSG00000188869 chr15 81331217 81374213 - TMC3 protein_coding 342125 GO:0005887, integral component of plasma membrane, GO:0008381, mechanosensitive ion channel activity, GO:0034220, ion transmembrane transport, 8 8 13 13 44 21 11 14 18 ENSG00000188873 chr8 47157118 47157771 + RPL10AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188877 chr8 43292483 43363518 + POTEA polymorphic_pseudogene 340441 0 0 0 0 0 0 0 0 0 ENSG00000188878 chr17 75909574 75941140 - FBF1 protein_coding 85302 GO:0097539, GO:0045095, GO:0043296, GO:0036064, GO:0005829, GO:0005814, GO:0005814, GO:0005813, GO:0000922, ciliary transition fiber, keratin filament, apical junction complex, ciliary basal body, cytosol, centriole, centriole, centrosome, spindle pole, GO:0005515, protein binding, GO:0097711, GO:0090162, GO:0060271, GO:0060271, GO:0043297, ciliary basal body-plasma membrane docking, establishment of epithelial cell polarity, cilium assembly, cilium assembly, apical junction assembly, 8 4 11 21 5 20 13 13 10 ENSG00000188883 chr7 139452690 139483712 - KLRG2 protein_coding 346689 GO:0016021, integral component of membrane, GO:0030246, carbohydrate binding, 0 0 0 0 0 0 0 0 0 ENSG00000188886 chr2 96123850 96138436 - ASTL protein_coding 431705 GO:0060473, GO:0030133, GO:0005886, GO:0005737, cortical granule, transport vesicle, plasma membrane, cytoplasm, GO:0070002, GO:0070001, GO:0008270, GO:0005515, GO:0004222, glutamic-type peptidase activity, aspartic-type peptidase activity, zinc ion binding, protein binding, metalloendopeptidase activity, GO:2000360, GO:0060468, GO:0010954, GO:0009566, GO:0007155, GO:0006508, negative regulation of binding of sperm to zona pellucida, prevention of polyspermy, positive regulation of protein processing, fertilization, cell adhesion, proteolysis, 3 10 7 53 35 80 46 14 44 ENSG00000188895 chr17 40122298 40136916 + MSL1 protein_coding 339287 GO:0072487, GO:0072487, GO:0016607, GO:0005654, GO:0005654, GO:0005634, MSL complex, MSL complex, nuclear speck, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0043984, GO:0043984, histone H4-K16 acetylation, histone H4-K16 acetylation, 11149 11386 12786 2567 6070 4252 3434 5396 3815 ENSG00000188897 chr16 11359845 11527245 - AC099489.1 protein_coding 400499 2091 2449 2713 2462 3183 3272 2489 2209 2801 ENSG00000188906 chr12 40196744 40369285 + LRRK2 protein_coding This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]. 120892 GO:1990909, GO:1990909, GO:1990904, GO:0099400, GO:0098794, GO:0097487, GO:0070971, GO:0070971, GO:0070062, GO:0045121, GO:0044754, GO:0044753, GO:0043231, GO:0043231, GO:0043204, GO:0043204, GO:0043204, GO:0043195, GO:0043025, GO:0043005, GO:0032839, GO:0032473, GO:0031966, GO:0031410, GO:0030672, GO:0030426, GO:0030425, GO:0030425, GO:0030424, GO:0030424, GO:0030424, GO:0016234, GO:0005902, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005802, GO:0005798, GO:0005794, GO:0005794, GO:0005794, GO:0005789, GO:0005783, GO:0005783, GO:0005768, GO:0005768, GO:0005764, GO:0005764, GO:0005759, GO:0005743, GO:0005741, GO:0005741, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005615, GO:0000139, Wnt signalosome, Wnt signalosome, ribonucleoprotein complex, caveola neck, postsynapse, multivesicular body, internal vesicle, endoplasmic reticulum exit site, endoplasmic reticulum exit site, extracellular exosome, membrane raft, autolysosome, amphisome, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, perikaryon, perikaryon, perikaryon, terminal bouton, neuronal cell body, neuron projection, dendrite cytoplasm, cytoplasmic side of mitochondrial outer membrane, mitochondrial membrane, cytoplasmic vesicle, synaptic vesicle membrane, growth cone, dendrite, dendrite, axon, axon, axon, inclusion body, microvillus, plasma membrane, plasma membrane, cytosol, cytosol, cytosol, trans-Golgi network, Golgi-associated vesicle, Golgi apparatus, Golgi apparatus, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, endosome, endosome, lysosome, lysosome, mitochondrial matrix, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, extracellular space, Golgi membrane, GO:1904713, GO:0106311, GO:0106310, GO:0051018, GO:0051018, GO:0044325, GO:0042803, GO:0042802, GO:0039706, GO:0036479, GO:0034211, GO:0034211, GO:0031267, GO:0031267, GO:0030276, GO:0030159, GO:0017075, GO:0016301, GO:0016301, GO:0015631, GO:0008017, GO:0005525, GO:0005525, GO:0005524, GO:0005515, GO:0005096, GO:0004722, GO:0004708, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0003924, GO:0003779, GO:0000287, GO:0000149, GO:0000149, beta-catenin destruction complex binding, protein threonine kinase activity, protein serine kinase activity, protein kinase A binding, protein kinase A binding, ion channel binding, protein homodimerization activity, identical protein binding, co-receptor binding, peroxidase inhibitor activity, GTP-dependent protein kinase activity, GTP-dependent protein kinase activity, small GTPase binding, small GTPase binding, clathrin binding, signaling receptor complex adaptor activity, syntaxin-1 binding, kinase activity, kinase activity, tubulin binding, microtubule binding, GTP binding, GTP binding, ATP binding, protein binding, GTPase activator activity, protein serine/threonine phosphatase activity, MAP kinase kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GTPase activity, actin binding, magnesium ion binding, SNARE binding, SNARE binding, GO:2000300, GO:2000172, GO:1905289, GO:1905279, GO:1905279, GO:1904887, GO:1904887, GO:1903980, GO:1903351, GO:1903217, GO:1903215, GO:1903206, GO:1903125, GO:1902902, GO:1902902, GO:1902823, GO:1902803, GO:1902803, GO:1902803, GO:1902692, GO:1902499, GO:1902236, GO:1901727, GO:1901215, GO:1901214, GO:1900244, GO:0140058, GO:0090394, GO:0090263, GO:0090140, GO:0072593, GO:0071407, GO:0071287, GO:0070997, GO:0070973, GO:0070973, GO:0070585, GO:0061001, GO:0061001, GO:0061001, GO:0060828, GO:0060828, GO:0060628, GO:0060161, GO:0060159, GO:0060159, GO:0060079, GO:0060070, GO:0051966, GO:0051900, GO:0051770, GO:0051646, GO:0048812, GO:0048812, GO:0048312, GO:0046777, GO:0046777, GO:0046039, GO:0043547, GO:0043406, GO:0043068, GO:0042391, GO:0042391, GO:0040012, GO:0035751, GO:0035641, GO:0035640, GO:0035564, GO:0035556, GO:0034613, GO:0034599, GO:0034260, GO:0032436, GO:0032092, GO:0032091, GO:0031647, GO:0031398, GO:0022028, GO:0021772, GO:0021756, GO:0019722, GO:0019722, GO:0018107, GO:0018107, GO:0018105, GO:0016310, GO:0016242, GO:0014041, GO:0010977, GO:0010955, GO:0010738, GO:0010508, GO:0010508, GO:0010508, GO:0010506, GO:0009267, GO:0008340, GO:0007528, GO:0007283, GO:0007165, GO:0007040, GO:0007030, GO:0007030, GO:0007029, GO:0007029, GO:0007005, GO:0007005, GO:0006979, GO:0006914, GO:0006897, GO:0006897, GO:0006606, GO:0006470, GO:0006468, GO:0006468, GO:0006468, GO:0001934, GO:0001934, GO:0001933, GO:0000187, GO:0000186, GO:0000165, regulation of synaptic vesicle exocytosis, regulation of branching morphogenesis of a nerve, regulation of CAMKK-AMPK signaling cascade, regulation of retrograde transport, endosome to Golgi, regulation of retrograde transport, endosome to Golgi, Wnt signalosome assembly, Wnt signalosome assembly, positive regulation of microglial cell activation, cellular response to dopamine, negative regulation of protein processing involved in protein targeting to mitochondrion, negative regulation of protein targeting to mitochondrion, negative regulation of hydrogen peroxide-induced cell death, negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation, negative regulation of autophagosome assembly, negative regulation of autophagosome assembly, negative regulation of late endosome to lysosome transport, regulation of synaptic vesicle transport, regulation of synaptic vesicle transport, regulation of synaptic vesicle transport, regulation of neuroblast proliferation, positive regulation of protein autoubiquitination, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, positive regulation of histone deacetylase activity, negative regulation of neuron death, regulation of neuron death, positive regulation of synaptic vesicle endocytosis, neuron projection arborization, negative regulation of excitatory postsynaptic potential, positive regulation of canonical Wnt signaling pathway, regulation of mitochondrial fission, reactive oxygen species metabolic process, cellular response to organic cyclic compound, cellular response to manganese ion, neuron death, protein localization to endoplasmic reticulum exit site, protein localization to endoplasmic reticulum exit site, protein localization to mitochondrion, regulation of dendritic spine morphogenesis, regulation of dendritic spine morphogenesis, regulation of dendritic spine morphogenesis, regulation of canonical Wnt signaling pathway, regulation of canonical Wnt signaling pathway, regulation of ER to Golgi vesicle-mediated transport, positive regulation of dopamine receptor signaling pathway, regulation of dopamine receptor signaling pathway, regulation of dopamine receptor signaling pathway, excitatory postsynaptic potential, canonical Wnt signaling pathway, regulation of synaptic transmission, glutamatergic, regulation of mitochondrial depolarization, positive regulation of nitric-oxide synthase biosynthetic process, mitochondrion localization, neuron projection morphogenesis, neuron projection morphogenesis, intracellular distribution of mitochondria, protein autophosphorylation, protein autophosphorylation, GTP metabolic process, positive regulation of GTPase activity, positive regulation of MAP kinase activity, positive regulation of programmed cell death, regulation of membrane potential, regulation of membrane potential, regulation of locomotion, regulation of lysosomal lumen pH, locomotory exploration behavior, exploration behavior, regulation of kidney size, intracellular signal transduction, cellular protein localization, cellular response to oxidative stress, negative regulation of GTPase activity, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of protein binding, negative regulation of protein binding, regulation of protein stability, positive regulation of protein ubiquitination, tangential migration from the subventricular zone to the olfactory bulb, olfactory bulb development, striatum development, calcium-mediated signaling, calcium-mediated signaling, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, phosphorylation, negative regulation of macroautophagy, regulation of neuron maturation, negative regulation of neuron projection development, negative regulation of protein processing, regulation of protein kinase A signaling, positive regulation of autophagy, positive regulation of autophagy, positive regulation of autophagy, regulation of autophagy, cellular response to starvation, determination of adult lifespan, neuromuscular junction development, spermatogenesis, signal transduction, lysosome organization, Golgi organization, Golgi organization, endoplasmic reticulum organization, endoplasmic reticulum organization, mitochondrion organization, mitochondrion organization, response to oxidative stress, autophagy, endocytosis, endocytosis, protein import into nucleus, protein dephosphorylation, protein phosphorylation, protein phosphorylation, protein phosphorylation, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, activation of MAPK activity, activation of MAPKK activity, MAPK cascade, 21964 18387 25712 8819 14439 14467 11968 11313 13658 ENSG00000188909 chr11 122977570 122981720 - BSX protein_coding 390259 GO:0005667, GO:0000785, GO:0000785, transcription regulator complex, chromatin, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060056, GO:0045944, GO:0042755, GO:0007626, GO:0006357, mammary gland involution, positive regulation of transcription by RNA polymerase II, eating behavior, locomotory behavior, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000188910 chr1 34781189 34786369 + GJB3 protein_coding This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 2707 GO:0043231, GO:0030054, GO:0016021, GO:0005922, GO:0005921, GO:0005737, intracellular membrane-bounded organelle, cell junction, integral component of membrane, connexin complex, gap junction, cytoplasm, GO:0005515, GO:0005243, GO:0005243, protein binding, gap junction channel activity, gap junction channel activity, GO:0071300, GO:0055085, GO:0043588, GO:0007283, GO:0007267, GO:0001890, GO:0001701, cellular response to retinoic acid, transmembrane transport, skin development, spermatogenesis, cell-cell signaling, placenta development, in utero embryonic development, 0 2 0 1 1 0 0 0 0 ENSG00000188916 chr10 127135426 127196158 - INSYN2 protein_coding 642938 GO:0014069, GO:0014069, postsynaptic density, postsynaptic density, GO:0005515, protein binding, GO:0060080, GO:0060080, inhibitory postsynaptic potential, inhibitory postsynaptic potential, 0 0 0 0 0 0 0 0 0 ENSG00000188917 chrX 101009346 101052116 - TRMT2B protein_coding This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA double strand break repair. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Nov 2009]. 79979 GO:0030697, GO:0005515, S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity, protein binding, GO:0030488, tRNA methylation, 60 83 100 84 108 81 106 54 92 ENSG00000188921 chr9 20999515 21031636 - HACD4 protein_coding 401494 GO:0030176, GO:0005783, integral component of endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102345, GO:0102344, GO:0102343, GO:0102158, GO:0019899, GO:0018812, GO:0018812, GO:0005515, 3-hydroxy-lignoceroyl-CoA dehydratase activity, 3-hydroxy-behenoyl-CoA dehydratase activity, 3-hydroxy-arachidoyl-CoA dehydratase activity, very-long-chain 3-hydroxyacyl-CoA dehydratase activity, enzyme binding, 3-hydroxyacyl-CoA dehydratase activity, 3-hydroxyacyl-CoA dehydratase activity, protein binding, GO:0042761, GO:0042761, GO:0030497, GO:0030497, GO:0030148, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, fatty acid elongation, fatty acid elongation, sphingolipid biosynthetic process, 1215 1159 1442 389 908 570 549 798 594 ENSG00000188931 chr1 161364731 161367874 - CFAP126 protein_coding 257177 GO:0036064, GO:0036064, GO:0016324, GO:0005929, GO:0005737, ciliary basal body, ciliary basal body, apical plasma membrane, cilium, cytoplasm, GO:0044782, GO:0044782, cilium organization, cilium organization, 27 12 28 27 7 22 10 5 2 ENSG00000188933 chr17 16786489 16804455 + USP32P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000188937 chrX 41447434 41475710 + NYX protein_coding The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]. 60506 GO:0031012, GO:0005615, extracellular matrix, extracellular space, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0050896, GO:0008150, GO:0007601, response to stimulus, biological_process, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000188938 chr9 93431441 93453592 - FAM120AOS protein_coding Differences in the expression level of this gene are associated with the survival rate of those with glioma. [provided by RefSeq, May 2017]. 158293 GO:0005515, protein binding, 929 760 1059 506 686 604 608 638 626 ENSG00000188958 chr3 191267168 191330536 - UTS2B protein_coding 257313 GO:0005576, extracellular region, GO:0005179, GO:0001664, hormone activity, G protein-coupled receptor binding, GO:0097746, GO:0008217, GO:0007186, blood vessel diameter maintenance, regulation of blood pressure, G protein-coupled receptor signaling pathway, 0 1 7 7 0 0 7 2 0 ENSG00000188959 chr9 110190048 110208189 - C9orf152 protein_coding 401546 GO:0005515, protein binding, 0 0 1 0 1 0 0 0 0 ENSG00000188976 chr1 944204 959309 - NOC2L protein_coding Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]. 26155 GO:0030691, GO:0030690, GO:0005829, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005654, GO:0005634, Noc2p-Noc3p complex, Noc1p-Noc2p complex, cytosol, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0070491, GO:0070491, GO:0042393, GO:0042393, GO:0031491, GO:0005515, GO:0003723, GO:0003714, GO:0003714, GO:0003682, repressing transcription factor binding, repressing transcription factor binding, histone binding, histone binding, nucleosome binding, protein binding, RNA binding, transcription corepressor activity, transcription corepressor activity, chromatin binding, GO:2001243, GO:1901796, GO:0042273, GO:0035067, GO:0035067, GO:0034644, GO:0031497, GO:0006915, GO:0002903, GO:0000122, GO:0000122, negative regulation of intrinsic apoptotic signaling pathway, regulation of signal transduction by p53 class mediator, ribosomal large subunit biogenesis, negative regulation of histone acetylation, negative regulation of histone acetylation, cellular response to UV, chromatin assembly, apoptotic process, negative regulation of B cell apoptotic process, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 51 93 90 130 119 176 86 70 96 ENSG00000188981 chr4 3244369 3271738 + MSANTD1 protein_coding 345222 GO:0016604, nuclear body, GO:0045893, positive regulation of transcription, DNA-templated, 5 2 0 8 3 11 3 5 8 ENSG00000188984 chr1 12716115 12728759 + AADACL3 protein_coding 126767 GO:0016021, integral component of membrane, GO:0052689, GO:0016787, carboxylic ester hydrolase activity, hydrolase activity, 0 0 0 0 0 0 0 0 0 ENSG00000188985 chr18 26170726 26171284 - DHFRP1 processed_pseudogene 20 11 18 6 6 10 12 8 5 ENSG00000188986 chr9 137255173 137273546 + NELFB protein_coding NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008]. 25920 GO:0032021, GO:0032021, GO:0005737, GO:0005654, GO:0005654, NELF complex, NELF complex, cytoplasm, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:2000737, GO:0050434, GO:0048863, GO:0034244, GO:0034244, GO:0008283, GO:0006368, GO:0006366, negative regulation of stem cell differentiation, positive regulation of viral transcription, stem cell differentiation, negative regulation of transcription elongation from RNA polymerase II promoter, negative regulation of transcription elongation from RNA polymerase II promoter, cell population proliferation, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 146 189 171 166 176 143 122 154 118 ENSG00000188991 chr12 16188485 16277685 - SLC15A5 protein_coding 729025 GO:0016021, integral component of membrane, GO:0015293, GO:0005515, symporter activity, protein binding, GO:0055085, GO:0015031, transmembrane transport, protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000188992 chr21 14108813 14210891 - LIPI protein_coding The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 149998 GO:0005886, GO:0005615, plasma membrane, extracellular space, GO:0016298, GO:0008201, GO:0004620, GO:0004620, GO:0004465, lipase activity, heparin binding, phospholipase activity, phospholipase activity, lipoprotein lipase activity, GO:0019433, GO:0016042, GO:0016042, GO:0006654, GO:0006633, triglyceride catabolic process, lipid catabolic process, lipid catabolic process, phosphatidic acid biosynthetic process, fatty acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000188993 chr4 51993702 52017620 - LRRC66 protein_coding This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. [provided by RefSeq, Apr 2017]. 339977 GO:0016021, integral component of membrane, 1 0 0 0 0 0 3 0 0 ENSG00000188994 chr6 87152833 87264196 + ZNF292 protein_coding This gene encodes a growth hormone-dependent, zinc finger transcription factor that functions as a tumor suppressor. Naturally occurring mutations in this gene are associated with gastric cancer, colorectal cancer, and chronic lymphocytic leukemia. [provided by RefSeq, May 2017]. 23036 GO:0005634, nucleus, GO:0046872, GO:0003677, GO:0000981, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 1587 1494 1815 1226 1660 1616 1555 1083 1310 ENSG00000188996 chr6 655939 656963 - HUS1B protein_coding The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008]. 135458 GO:0035861, GO:0030896, GO:0005730, site of double-strand break, checkpoint clamp complex, nucleolus, GO:0044778, GO:0033314, GO:0031573, GO:0006289, GO:0000724, GO:0000723, meiotic DNA integrity checkpoint, mitotic DNA replication checkpoint, intra-S DNA damage checkpoint, nucleotide-excision repair, double-strand break repair via homologous recombination, telomere maintenance, 0 0 0 1 1 8 0 0 0 ENSG00000188997 chr11 78171249 78188822 - KCTD21 protein_coding 283219 GO:0097602, GO:0097602, GO:0042826, GO:0042826, GO:0042802, GO:0005515, cullin family protein binding, cullin family protein binding, histone deacetylase binding, histone deacetylase binding, identical protein binding, protein binding, GO:0051260, GO:0045879, GO:0040008, GO:0016567, GO:0006511, GO:0006511, protein homooligomerization, negative regulation of smoothened signaling pathway, regulation of growth, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 130 90 154 57 90 53 61 63 56 ENSG00000189001 chr19 35523367 35528351 - SBSN protein_coding 374897 GO:0070062, extracellular exosome, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 2 0 0 0 0 0 ENSG00000189002 chr3 90202316 90257415 - PROS2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000189007 chr6 143422832 143450673 - ADAT2 protein_coding 134637 GO:0052718, GO:0005654, tRNA-specific adenosine-34 deaminase complex, nucleoplasm, GO:0052717, GO:0008270, GO:0005515, tRNA-specific adenosine-34 deaminase activity, zinc ion binding, protein binding, GO:0006400, GO:0002100, tRNA modification, tRNA wobble adenosine to inosine editing, 15 1 19 47 7 40 55 9 19 ENSG00000189013 chr19 54803535 54814517 + KIR2DL4 protein_coding Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the 'framework' loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]. 3805 GO:0031901, GO:0016020, GO:0005887, GO:0005886, early endosome membrane, membrane, integral component of plasma membrane, plasma membrane, GO:0032394, GO:0005515, GO:0004888, MHC class Ib receptor activity, protein binding, transmembrane signaling receptor activity, GO:2000774, GO:0050776, GO:0045953, GO:0007165, GO:0006968, GO:0002729, positive regulation of cellular senescence, regulation of immune response, negative regulation of natural killer cell mediated cytotoxicity, signal transduction, cellular defense response, positive regulation of natural killer cell cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000189014 chr10 47689707 47730436 + SHLD2P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000189023 chrX 35798342 35803735 + MAGEB16 protein_coding 139604 0 0 0 0 0 0 0 0 0 ENSG00000189030 chr1 156298624 156299299 - VHLL protein_coding Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010]. 391104 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000189037 chrX 44844004 44844888 + DUSP21 protein_coding This gene encodes a member of the dual specificity phosphatase family, specifically the low molecular weight dual specificity phosphatase family. The encoded protein localizes to both the cytoplasm and the nucleus and functions to remove phosphate groups from phosphotyrosine and phosphothreonine residues.[provided by RefSeq, Mar 2009]. 63904 GO:0031314, GO:0005759, GO:0005737, GO:0005634, extrinsic component of mitochondrial inner membrane, mitochondrial matrix, cytoplasm, nucleus, GO:0106307, GO:0106306, GO:0017017, GO:0005515, GO:0004725, protein threonine phosphatase activity, protein serine phosphatase activity, MAP kinase tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, GO:0035335, GO:0000188, peptidyl-tyrosine dephosphorylation, inactivation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000189042 chr19 36687612 36727701 + ZNF567 protein_coding 163081 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 28 29 21 36 22 30 25 13 19 ENSG00000189043 chr7 10931951 10940256 - NDUFA4 protein_coding The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]. 4697 GO:0016021, GO:0005751, GO:0005751, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0044877, GO:0008137, GO:0005515, GO:0004129, GO:0004129, protein-containing complex binding, NADH dehydrogenase (ubiquinone) activity, protein binding, cytochrome-c oxidase activity, cytochrome-c oxidase activity, GO:1902600, GO:0006123, GO:0006120, proton transmembrane transport, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, NADH to ubiquinone, 87 69 105 94 59 126 77 69 111 ENSG00000189045 chr5 75611459 75671846 + ANKDD1B protein_coding 728780 GO:0007165, signal transduction, 0 1 4 0 1 0 0 1 2 ENSG00000189046 chr12 109088188 109093631 - ALKBH2 protein_coding The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]. 121642 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0103053, GO:0051747, GO:0051747, GO:0051747, GO:0043734, GO:0043734, GO:0008198, GO:0008198, GO:0005515, 1-ethyladenine demethylase activity, cytosine C-5 DNA demethylase activity, cytosine C-5 DNA demethylase activity, cytosine C-5 DNA demethylase activity, DNA-N1-methyladenine dioxygenase activity, DNA-N1-methyladenine dioxygenase activity, ferrous iron binding, ferrous iron binding, protein binding, GO:0080111, GO:0070989, GO:0035511, GO:0035511, GO:0006307, GO:0006307, GO:0006307, DNA demethylation, oxidative demethylation, oxidative DNA demethylation, oxidative DNA demethylation, DNA dealkylation involved in DNA repair, DNA dealkylation involved in DNA repair, DNA dealkylation involved in DNA repair, 18 12 11 31 21 54 44 27 18 ENSG00000189050 chr17 59952240 59964761 - RNFT1 protein_coding 51136 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0061630, GO:0061630, GO:0046872, GO:0043130, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, ubiquitin binding, GO:1904294, GO:1904294, GO:0051865, positive regulation of ERAD pathway, positive regulation of ERAD pathway, protein autoubiquitination, 81 99 138 45 88 105 72 75 49 ENSG00000189051 chr17 8390704 8397826 - RNF222 protein_coding 643904 GO:0016021, integral component of membrane, GO:0046872, metal ion binding, 21 43 16 29 33 55 41 44 48 ENSG00000189052 chr19 49043884 49045311 + CGB5 protein_coding This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 5 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]. 93659 0 0 0 0 0 0 0 0 0 ENSG00000189056 chr7 103471784 103989516 - RELN protein_coding This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]. 5649 GO:0043005, GO:0031012, GO:0030425, GO:0005886, GO:0005737, GO:0005615, GO:0005615, GO:0005576, neuron projection, extracellular matrix, dendrite, plasma membrane, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0070326, GO:0070325, GO:0070325, GO:0046872, GO:0008236, very-low-density lipoprotein particle receptor binding, lipoprotein particle receptor binding, lipoprotein particle receptor binding, metal ion binding, serine-type peptidase activity, GO:2000969, GO:2000463, GO:2000310, GO:1902078, GO:1900273, GO:0097477, GO:0097120, GO:0097119, GO:0097114, GO:0090129, GO:0061098, GO:0061003, GO:0060291, GO:0051968, GO:0051057, GO:0050804, GO:0050795, GO:0050731, GO:0048265, GO:0045860, GO:0038026, GO:0032793, GO:0032008, GO:0021819, GO:0021800, GO:0021766, GO:0021517, GO:0021511, GO:0018108, GO:0016358, GO:0014068, GO:0010976, GO:0010001, GO:0008306, GO:0007626, GO:0007616, GO:0007420, GO:0007417, GO:0007417, GO:0007411, GO:0007411, GO:0007155, GO:0006508, GO:0001764, GO:0001764, GO:0000904, positive regulation of AMPA receptor activity, positive regulation of excitatory postsynaptic potential, regulation of NMDA receptor activity, positive regulation of lateral motor column neuron migration, positive regulation of long-term synaptic potentiation, lateral motor column neuron migration, receptor localization to synapse, postsynaptic density protein 95 clustering, NMDA glutamate receptor clustering, positive regulation of synapse maturation, positive regulation of protein tyrosine kinase activity, positive regulation of dendritic spine morphogenesis, long-term synaptic potentiation, positive regulation of synaptic transmission, glutamatergic, positive regulation of small GTPase mediated signal transduction, modulation of chemical synaptic transmission, regulation of behavior, positive regulation of peptidyl-tyrosine phosphorylation, response to pain, positive regulation of protein kinase activity, reelin-mediated signaling pathway, positive regulation of CREB transcription factor activity, positive regulation of TOR signaling, layer formation in cerebral cortex, cerebral cortex tangential migration, hippocampus development, ventral spinal cord development, spinal cord patterning, peptidyl-tyrosine phosphorylation, dendrite development, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, glial cell differentiation, associative learning, locomotory behavior, long-term memory, brain development, central nervous system development, central nervous system development, axon guidance, axon guidance, cell adhesion, proteolysis, neuron migration, neuron migration, cell morphogenesis involved in differentiation, 0 0 0 1 0 0 0 1 0 ENSG00000189057 chr11 59107185 59127410 + FAM111B protein_coding This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]. 374393 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, protein binding, GO:0006260, DNA replication, 4 2 5 4 0 3 7 2 21 ENSG00000189058 chr3 195568702 195584205 - APOD protein_coding This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008]. 347 GO:0070062, GO:0048471, GO:0043025, GO:0030425, GO:0022626, GO:0005783, GO:0005737, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, perinuclear region of cytoplasm, neuronal cell body, dendrite, cytosolic ribosome, endoplasmic reticulum, cytoplasm, extracellular space, extracellular space, extracellular region, extracellular region, GO:0015485, GO:0015485, GO:0005515, GO:0005319, cholesterol binding, cholesterol binding, protein binding, lipid transporter activity, GO:2000405, GO:2000098, GO:1900016, GO:0071638, GO:0060588, GO:0051895, GO:0048678, GO:0048662, GO:0042493, GO:0042308, GO:0042246, GO:0014012, GO:0010642, GO:0007568, GO:0007420, GO:0006869, GO:0006629, GO:0006629, GO:0006006, GO:0001525, GO:0000302, GO:0000302, negative regulation of T cell migration, negative regulation of smooth muscle cell-matrix adhesion, negative regulation of cytokine production involved in inflammatory response, negative regulation of monocyte chemotactic protein-1 production, negative regulation of lipoprotein lipid oxidation, negative regulation of focal adhesion assembly, response to axon injury, negative regulation of smooth muscle cell proliferation, response to drug, negative regulation of protein import into nucleus, tissue regeneration, peripheral nervous system axon regeneration, negative regulation of platelet-derived growth factor receptor signaling pathway, aging, brain development, lipid transport, lipid metabolic process, lipid metabolic process, glucose metabolic process, angiogenesis, response to reactive oxygen species, response to reactive oxygen species, 0 0 0 0 0 0 0 0 0 ENSG00000189060 chr22 37805093 37807436 + H1F0 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015]. 3005 GO:0017053, GO:0016604, GO:0015629, GO:0005794, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000791, GO:0000786, GO:0000785, transcription repressor complex, nuclear body, actin cytoskeleton, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, nucleus, euchromatin, nucleosome, chromatin, GO:0031492, GO:0031490, GO:0005515, GO:0003723, GO:0003690, GO:0003680, nucleosomal DNA binding, chromatin DNA binding, protein binding, RNA binding, double-stranded DNA binding, minor groove of adenine-thymine-rich DNA binding, GO:2000679, GO:0045910, GO:0031936, GO:0030261, GO:0016584, GO:0006342, GO:0006334, GO:0006309, GO:0000122, positive regulation of transcription regulatory region DNA binding, negative regulation of DNA recombination, negative regulation of chromatin silencing, chromosome condensation, nucleosome positioning, chromatin silencing, nucleosome assembly, apoptotic DNA fragmentation, negative regulation of transcription by RNA polymerase II, 93 199 105 36 224 94 86 250 95 ENSG00000189064 chrX 49589529 49596827 + GAGE2A protein_coding 729447 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000189067 chr16 11547722 11636381 - LITAF protein_coding Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]. 9516 GO:0098574, GO:0098560, GO:0098559, GO:0043231, GO:0009898, GO:0005886, GO:0005829, GO:0005794, GO:0005794, GO:0005765, GO:0005654, GO:0000139, cytoplasmic side of lysosomal membrane, cytoplasmic side of late endosome membrane, cytoplasmic side of early endosome membrane, intracellular membrane-bounded organelle, cytoplasmic side of plasma membrane, plasma membrane, cytosol, Golgi apparatus, Golgi apparatus, lysosomal membrane, nucleoplasm, Golgi membrane, GO:0050699, GO:0008270, GO:0005515, GO:0001228, GO:0000978, WW domain binding, zinc ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1901223, GO:0071222, GO:0045944, GO:0043123, GO:0007568, GO:0006357, GO:0001817, negative regulation of NIK/NF-kappaB signaling, cellular response to lipopolysaccharide, positive regulation of transcription by RNA polymerase II, positive regulation of I-kappaB kinase/NF-kappaB signaling, aging, regulation of transcription by RNA polymerase II, regulation of cytokine production, 43636 34709 56257 20144 23048 26100 27880 23053 22892 ENSG00000189068 chr19 54040825 54063953 - VSTM1 protein_coding 284415 GO:0016021, GO:0005615, integral component of membrane, extracellular space, GO:0005125, cytokine activity, GO:0007165, GO:0002376, signal transduction, immune system process, 0 1 0 0 2 0 0 0 0 ENSG00000189077 chr7 75986837 75994659 - TMEM120A protein_coding 83862 GO:0016021, GO:0016020, GO:0005886, GO:0005637, GO:0005575, integral component of membrane, membrane, plasma membrane, nuclear inner membrane, cellular_component, GO:0005515, GO:0005216, GO:0003674, protein binding, ion channel activity, molecular_function, GO:0051291, GO:0051260, GO:0050966, GO:0045444, GO:0045444, GO:0034220, protein heterooligomerization, protein homooligomerization, detection of mechanical stimulus involved in sensory perception of pain, fat cell differentiation, fat cell differentiation, ion transmembrane transport, 769 582 859 347 525 423 463 473 473 ENSG00000189079 chr12 45729665 45908040 + ARID2 protein_coding This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]. 196528 GO:0005886, GO:0005654, plasma membrane, nucleoplasm, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:1905168, GO:0060982, GO:0060038, GO:0048568, GO:0042592, GO:0030336, GO:0008285, GO:0006355, GO:0006337, GO:0003007, positive regulation of double-strand break repair via homologous recombination, coronary artery morphogenesis, cardiac muscle cell proliferation, embryonic organ development, homeostatic process, negative regulation of cell migration, negative regulation of cell population proliferation, regulation of transcription, DNA-templated, nucleosome disassembly, heart morphogenesis, 472 489 566 279 322 394 317 249 332 ENSG00000189089 chr21 36050214 36051377 + RIMKLBP1 processed_pseudogene 1 0 1 0 0 1 0 0 0 ENSG00000189090 chr10 47487219 47491693 - FAM25G protein_coding 100133093 0 0 0 0 0 0 0 0 0 ENSG00000189091 chr16 70523788 70577670 + SF3B3 protein_coding This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]. 23450 GO:0071013, GO:0071005, GO:0005730, GO:0005689, GO:0005654, GO:0005654, GO:0005634, GO:0005634, catalytic step 2 spliceosome, U2-type precatalytic spliceosome, nucleolus, U12-type spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0044877, GO:0005515, GO:0003676, protein-containing complex binding, protein binding, nucleic acid binding, GO:0042177, GO:0008380, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000375, negative regulation of protein catabolic process, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, RNA splicing, via transesterification reactions, 103 106 188 250 126 284 220 117 167 ENSG00000189099 chr4 151277171 151291453 + PRSS48 protein_coding 345062 GO:0005615, extracellular space, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000189108 chrX 104566315 105767829 + IL1RAPL2 protein_coding The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic cognitive disability. [provided by RefSeq, Jul 2008]. 26280 GO:0098978, GO:0098978, GO:0016021, GO:0005886, glutamatergic synapse, glutamatergic synapse, integral component of membrane, plasma membrane, GO:0061809, GO:0050135, GO:0004910, GO:0004908, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, interleukin-1, type II, blocking receptor activity, interleukin-1 receptor activity, GO:1905606, GO:1905606, GO:0019221, GO:0007417, regulation of presynapse assembly, regulation of presynapse assembly, cytokine-mediated signaling pathway, central nervous system development, 0 0 0 0 0 0 0 0 0 ENSG00000189114 chr19 45178745 45181801 + BLOC1S3 protein_coding This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]. 388552 GO:1904115, GO:0031083, GO:0031083, GO:0030133, GO:0005829, axon cytoplasm, BLOC-1 complex, BLOC-1 complex, transport vesicle, cytosol, GO:0008320, GO:0005515, GO:0003674, protein transmembrane transporter activity, protein binding, molecular_function, GO:0071806, GO:0060155, GO:0048490, GO:0043473, GO:0042493, GO:0035646, GO:0033299, GO:0032816, GO:0032438, GO:0032402, GO:0031175, GO:0030168, GO:0008089, GO:0001654, protein transmembrane transport, platelet dense granule organization, anterograde synaptic vesicle transport, pigmentation, response to drug, endosome to melanosome transport, secretion of lysosomal enzymes, positive regulation of natural killer cell activation, melanosome organization, melanosome transport, neuron projection development, platelet activation, anterograde axonal transport, eye development, 199 251 200 1575 1297 1212 1487 1078 830 ENSG00000189120 chr17 47844908 47855874 - SP6 protein_coding SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]. 80320 GO:0005829, GO:0000785, GO:0000785, cytosol, chromatin, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0042481, GO:0006357, regulation of odontogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 1 0 ENSG00000189127 chr5 80556755 80570488 - ANKRD34B protein_coding 340120 GO:0005737, GO:0005634, cytoplasm, nucleus, 56 69 46 32 66 29 35 52 32 ENSG00000189129 chr10 80131682 80145359 + PLAC9 protein_coding 219348 GO:0005576, extracellular region, GO:0005515, protein binding, 16 24 16 35 91 50 38 47 33 ENSG00000189132 chrX 34942796 34944915 + FAM47B protein_coding 170062 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000189134 chr6 28259320 28260958 + NKAPL protein_coding 222698 GO:0005634, nucleus, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0030154, GO:0010468, GO:0007283, cell differentiation, regulation of gene expression, spermatogenesis, 9 17 16 2 11 1 6 6 7 ENSG00000189136 chr15 84526781 84571216 - UBE2Q2P1 transcribed_unprocessed_pseudogene 388165 9 5 11 1 3 11 3 5 1 ENSG00000189139 chr14 44504342 44507279 - FSCB protein_coding 84075 GO:0031514, motile cilium, GO:0005509, calcium ion binding, GO:0033234, negative regulation of protein sumoylation, 1 0 0 0 0 0 0 0 0 ENSG00000189143 chr7 73799542 73832693 + CLDN4 protein_coding The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013]. 1364 GO:0070160, GO:0034707, GO:0016328, GO:0016327, GO:0016324, GO:0009925, GO:0005923, GO:0005923, GO:0005923, GO:0005911, GO:0005887, GO:0005886, GO:0005886, tight junction, chloride channel complex, lateral plasma membrane, apicolateral plasma membrane, apical plasma membrane, basal plasma membrane, bicellular tight junction, bicellular tight junction, bicellular tight junction, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005254, GO:0005198, GO:0004888, identical protein binding, protein binding, chloride channel activity, structural molecule activity, transmembrane signaling receptor activity, GO:1905050, GO:1902476, GO:0090303, GO:0070830, GO:0070293, GO:0061436, GO:0032570, GO:0030335, GO:0022604, GO:0016338, GO:0007623, GO:0007565, GO:0007155, positive regulation of metallopeptidase activity, chloride transmembrane transport, positive regulation of wound healing, bicellular tight junction assembly, renal absorption, establishment of skin barrier, response to progesterone, positive regulation of cell migration, regulation of cell morphogenesis, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, circadian rhythm, female pregnancy, cell adhesion, 0 1 0 0 3 0 0 0 0 ENSG00000189144 chr19 37735833 37817300 - ZNF573 protein_coding 6 8 8 12 4 10 13 3 2 ENSG00000189145 chrX 40907987 40908391 + AC092268.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000189149 chr16 21300849 21339037 + CRYM-AS1 transcribed_unitary_pseudogene 0 0 0 0 5 0 1 0 0 ENSG00000189152 chr17 19127469 19159176 + GRAPL protein_coding 400581 GO:0005515, protein binding, 0 0 0 3 0 0 0 0 0 ENSG00000189157 chr4 76214040 76283780 + FAM47E protein_coding 100129583 GO:0005737, cytoplasm, GO:0003674, molecular_function, GO:0008150, biological_process, 1 0 0 2 0 0 0 0 0 ENSG00000189159 chr17 75135248 75168281 - JPT1 protein_coding 51155 GO:0031965, GO:0005737, GO:0005730, GO:0005654, nuclear membrane, cytoplasm, nucleolus, nucleoplasm, GO:0005515, protein binding, 1076 949 1271 549 852 720 607 894 734 ENSG00000189164 chr19 37371061 37393066 + ZNF527 protein_coding 84503 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 8 14 9 23 18 12 14 1 13 ENSG00000189166 chr7 56991888 57009149 + TNRC18P3 unprocessed_pseudogene 7 6 7 0 7 4 0 1 0 ENSG00000189167 chr13 32303700 32315344 - ZAR1L protein_coding This gene encodes a member of the ZAR1 family that is predominantly expressed in oocytes and early embryos. The protein may function as an RNA regulator in early embryos. [provided by RefSeq, Apr 2010]. 646799 GO:0005737, cytoplasm, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0016441, GO:0006412, posttranscriptional gene silencing, translation, 0 0 1 2 7 1 3 5 0 ENSG00000189169 chr21 44697172 44698044 + KRTAP10-12 protein_coding 386685 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000189171 chr1 153618787 153631360 - S100A13 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6284 GO:0048471, GO:0048471, GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0005615, GO:0005615, GO:0005576, perinuclear region of cytoplasm, perinuclear region of cytoplasm, plasma membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, extracellular space, extracellular space, extracellular region, GO:0050786, GO:0050786, GO:0048306, GO:0042803, GO:0017134, GO:0008289, GO:0008270, GO:0005515, GO:0005509, GO:0005509, GO:0005507, RAGE receptor binding, RAGE receptor binding, calcium-dependent protein binding, protein homodimerization activity, fibroblast growth factor binding, lipid binding, zinc ion binding, protein binding, calcium ion binding, calcium ion binding, copper ion binding, GO:0051602, GO:0046688, GO:0043303, GO:0043123, GO:0043123, GO:0032610, GO:0008360, GO:0008284, GO:0001816, response to electrical stimulus, response to copper ion, mast cell degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, interleukin-1 alpha production, regulation of cell shape, positive regulation of cell population proliferation, cytokine production, 4 8 4 6 2 4 8 3 0 ENSG00000189180 chr10 38010650 38065088 + ZNF33A protein_coding 7581 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0003700, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0006355, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 1737 1835 1668 907 1778 1326 1324 1481 1335 ENSG00000189181 chr1 248681369 248682304 - OR14I1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401994 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0005515, GO:0004984, GO:0004930, odorant binding, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000189182 chr12 52689626 52703463 - KRT77 protein_coding Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]. 374454 GO:0070062, GO:0045095, GO:0005856, GO:0005829, extracellular exosome, keratin filament, cytoskeleton, cytosol, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0070268, GO:0031424, GO:0008150, cornification, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000189184 chr4 137518918 137532494 - PCDH18 protein_coding This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]. 54510 GO:0005887, integral component of plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0007420, GO:0007156, GO:0007155, brain development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000189186 chrX 27590382 27748821 + DCAF8L2 protein_coding 347442 GO:0080008, GO:0005737, Cul4-RING E3 ubiquitin ligase complex, cytoplasm, 0 0 0 0 1 0 0 0 0 ENSG00000189190 chr19 52749942 52786807 - ZNF600 protein_coding 162966 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 40 15 59 86 37 71 106 36 45 ENSG00000189195 chr1 92080305 92184725 + BTBD8 protein_coding 284697 GO:0098793, GO:0044306, GO:0044297, GO:0030424, GO:0030122, GO:0008021, GO:0005654, presynapse, neuron projection terminus, cell body, axon, AP-2 adaptor complex, synaptic vesicle, nucleoplasm, GO:0150007, GO:0036466, GO:0031175, clathrin-dependent synaptic vesicle endocytosis, synaptic vesicle recycling via endosome, neuron projection development, 35 12 36 48 42 41 28 10 53 ENSG00000189196 chr3 64078361 64087363 - LINC00994 lincRNA 100287879 0 0 0 0 0 0 0 1 0 ENSG00000189212 chr7 35079989 35186041 - DPY19L2P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000189221 chrX 43654907 43746824 + MAOA protein_coding This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]. 4128 GO:0016021, GO:0005829, GO:0005741, GO:0005739, GO:0005739, integral component of membrane, cytosol, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0008131, GO:0005515, primary amine oxidase activity, protein binding, GO:0055114, GO:0042420, GO:0042135, GO:0042133, GO:0019221, GO:0009967, GO:0006576, oxidation-reduction process, dopamine catabolic process, neurotransmitter catabolic process, neurotransmitter metabolic process, cytokine-mediated signaling pathway, positive regulation of signal transduction, cellular biogenic amine metabolic process, 0 0 4 0 0 0 3 2 4 ENSG00000189223 chr2 113211522 113276581 + PAX8-AS1 processed_transcript 654433 113 38 282 87 41 199 98 38 203 ENSG00000189227 chr15 67521068 67530143 + C15orf61 protein_coding 145853 GO:0005576, extracellular region, 5 1 7 10 2 0 7 4 8 ENSG00000189229 chr3 6490479 6736129 + AC069277.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000189233 chr8 28021964 28083871 - NUGGC protein_coding 389643 GO:0016607, nuclear speck, GO:0005525, GO:0003924, GO:0003924, GTP binding, GTPase activity, GTPase activity, GO:0071222, GO:0043066, GO:0033262, cellular response to lipopolysaccharide, negative regulation of apoptotic process, regulation of nuclear cell cycle DNA replication, 4 4 7 18 4 19 17 3 5 ENSG00000189238 chr12 126726270 126746252 + LINC00943 lincRNA 100507206 0 0 4 2 0 6 5 0 14 ENSG00000189241 chr6 116276578 116279903 - TSPYL1 protein_coding The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]. 7259 GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleus, GO:0042393, GO:0019899, GO:0003682, histone binding, enzyme binding, chromatin binding, GO:0008150, GO:0006334, biological_process, nucleosome assembly, 753 702 934 449 536 822 603 503 676 ENSG00000189252 chrX 143508735 143517475 - SPANXN3 protein_coding 139067 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000189253 chr11 89869282 89876017 - TRIM64B protein_coding 642446 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 2 1 0 0 0 0 0 ENSG00000189266 chr1 23956839 23963462 + PNRC2 protein_coding 55629 GO:0005829, GO:0005794, GO:0005654, GO:0005634, GO:0005634, GO:0000932, GO:0000932, cytosol, Golgi apparatus, nucleoplasm, nucleus, nucleus, P-body, P-body, GO:0005515, protein binding, GO:0031087, GO:0000184, GO:0000184, GO:0000184, deadenylation-independent decapping of nuclear-transcribed mRNA, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 898 858 1390 737 593 880 711 575 692 ENSG00000189269 chr22 23608452 23632321 - DRICH1 protein_coding 51233 GO:0005515, protein binding, 3 8 15 17 11 31 9 6 19 ENSG00000189275 chr10 131772398 131790199 - LINC01164 lincRNA 399827 0 0 0 0 0 0 0 0 0 ENSG00000189280 chr1 34755047 34758512 + GJB5 protein_coding This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]. 2709 GO:0016021, GO:0005922, integral component of membrane, connexin complex, GO:0005515, GO:0005243, protein binding, gap junction channel activity, GO:1905867, GO:0060713, GO:0060707, GO:0055085, GO:0008544, GO:0007267, epididymis development, labyrinthine layer morphogenesis, trophoblast giant cell differentiation, transmembrane transport, epidermis development, cell-cell signaling, 1 3 0 0 1 0 0 1 2 ENSG00000189283 chr3 59749310 61251459 - FHIT protein_coding The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]. 2272 GO:0005886, GO:0005886, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005634, GO:0001650, plasma membrane, plasma membrane, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleus, fibrillar center, GO:0047710, GO:0047710, GO:0042802, GO:0031625, GO:0031625, GO:0016787, GO:0005515, GO:0003824, GO:0000166, bis(5'-adenosyl)-triphosphatase activity, bis(5'-adenosyl)-triphosphatase activity, identical protein binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, hydrolase activity, protein binding, catalytic activity, nucleotide binding, GO:0072332, GO:0072332, GO:0032435, GO:0032435, GO:0015964, GO:0009117, GO:0006163, GO:0006163, intrinsic apoptotic signaling pathway by p53 class mediator, intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, diadenosine triphosphate catabolic process, nucleotide metabolic process, purine nucleotide metabolic process, purine nucleotide metabolic process, 9 2 1 27 3 0 26 3 4 ENSG00000189292 chr2 279558 288851 - ALKAL2 protein_coding 285016 GO:0005576, extracellular region, GO:0030971, GO:0030971, GO:0030298, GO:0030298, GO:0005515, receptor tyrosine kinase binding, receptor tyrosine kinase binding, receptor signaling protein tyrosine kinase activator activity, receptor signaling protein tyrosine kinase activator activity, protein binding, GO:0070378, GO:0070378, GO:0070374, GO:0070374, GO:0061098, GO:0010976, positive regulation of ERK5 cascade, positive regulation of ERK5 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein tyrosine kinase activity, positive regulation of neuron projection development, 0 0 0 2 0 0 1 0 0 ENSG00000189295 chr22 16654066 16675540 - ANKRD62P1-PARP4P3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000189298 chr6 28349914 28369177 + ZKSCAN3 protein_coding 80317 GO:0005737, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001227, GO:0000981, GO:0000978, GO:0000978, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000773, GO:0045893, GO:0045892, GO:0010507, GO:0007040, GO:0006914, GO:0006357, GO:0000122, negative regulation of cellular senescence, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of autophagy, lysosome organization, autophagy, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 6 3 11 16 9 5 11 6 23 ENSG00000189299 chrX 55623400 55625325 + FOXR2 protein_coding 139628 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:1990837, GO:0005515, GO:0000981, sequence-specific double-stranded DNA binding, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000189306 chr22 42509968 42519802 - RRP7A protein_coding 27341 GO:0034456, GO:0032545, GO:0005737, GO:0005654, UTP-C complex, CURI complex, cytoplasm, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006364, GO:0006364, GO:0001825, GO:0000028, rRNA processing, rRNA processing, blastocyst formation, ribosomal small subunit assembly, 64 80 109 69 72 118 67 49 82 ENSG00000189308 chr4 82909973 83012926 - LIN54 protein_coding LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]. 132660 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0003680, GO:0001067, metal ion binding, protein binding, minor groove of adenine-thymine-rich DNA binding, regulatory region nucleic acid binding, GO:0051726, GO:0016584, GO:0007049, GO:0006355, regulation of cell cycle, nucleosome positioning, cell cycle, regulation of transcription, DNA-templated, 960 650 1542 295 362 439 337 280 295 ENSG00000189316 chr7 64888527 64890100 - AC073349.1 antisense 441239 0 2 3 0 3 8 0 1 8 ENSG00000189319 chr10 124619292 124744269 - FAM53B protein_coding 9679 GO:0005634, GO:0005634, nucleus, nucleus, GO:0090263, GO:0090263, GO:0060828, GO:0016055, GO:0006606, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, regulation of canonical Wnt signaling pathway, Wnt signaling pathway, protein import into nucleus, 1483 1811 2145 818 1444 1051 930 1094 944 ENSG00000189320 chr7 135728348 135748846 - FAM180A protein_coding 389558 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000189325 chr6 36315757 36336885 - C6orf222 protein_coding 389384 GO:0005515, protein binding, 1 0 1 0 4 8 0 3 2 ENSG00000189326 chrX 143025918 143034702 + SPANXN4 protein_coding This gene represents one of several duplicated family members that are located on the X chromosome. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, Sep 2009]. 441525 0 0 0 0 0 0 0 0 0 ENSG00000189332 chr11 18209138 18214562 + AC090099.1 transcribed_unprocessed_pseudogene 494141 0 0 0 0 1 0 0 0 0 ENSG00000189334 chr1 153614255 153616986 - S100A14 protein_coding This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]. 57402 GO:0070062, GO:0048471, GO:0048471, GO:0005615, extracellular exosome, perinuclear region of cytoplasm, perinuclear region of cytoplasm, extracellular space, GO:0048306, GO:0042379, GO:0042379, GO:0005515, GO:0005509, GO:0005509, calcium-dependent protein binding, chemokine receptor binding, chemokine receptor binding, protein binding, calcium ion binding, calcium ion binding, GO:0090026, GO:0090026, GO:0071624, GO:0071624, GO:0055074, GO:0042742, GO:0034142, GO:0034142, GO:0032496, GO:0032496, GO:0006915, positive regulation of monocyte chemotaxis, positive regulation of monocyte chemotaxis, positive regulation of granulocyte chemotaxis, positive regulation of granulocyte chemotaxis, calcium ion homeostasis, defense response to bacterium, toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, response to lipopolysaccharide, response to lipopolysaccharide, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000189337 chr1 13892792 15118043 + KAZN protein_coding This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]. 23254 GO:0030057, GO:0016607, GO:0005856, GO:0005829, GO:0005829, GO:0005654, GO:0001533, desmosome, nuclear speck, cytoskeleton, cytosol, cytosol, nucleoplasm, cornified envelope, GO:0005515, protein binding, GO:0070268, cornification, 55 166 241 35 186 204 39 150 167 ENSG00000189339 chr1 1659529 1692728 - SLC35E2B protein_coding 728661 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, GO:0015297, antiporter activity, GO:0055085, GO:0001835, transmembrane transport, blastocyst hatching, 1180 1037 997 1496 1394 1104 1512 968 765 ENSG00000189343 chr17 19445970 19446852 - RPS2P46 processed_pseudogene 55 60 96 138 56 128 100 70 89 ENSG00000189348 chr19 53281559 53284944 + FAM90A27P transcribed_unprocessed_pseudogene 646508 0 0 0 0 0 0 0 0 0 ENSG00000189350 chr2 28956611 29061373 + TOGARAM2 protein_coding 165186 GO:0072686, GO:0005929, GO:0005881, GO:0005876, GO:0005815, mitotic spindle, cilium, cytoplasmic microtubule, spindle microtubule, microtubule organizing center, GO:0008017, microtubule binding, GO:0090307, GO:0031110, GO:0000226, mitotic spindle assembly, regulation of microtubule polymerization or depolymerization, microtubule cytoskeleton organization, 8 4 20 23 9 35 22 15 21 ENSG00000189357 chr9 81928514 81934948 + SPATA31D4 protein_coding 389761 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000189362 chr2 190504342 190534722 - NEMP2 protein_coding 100131211 GO:0016021, GO:0005637, GO:0005635, integral component of membrane, nuclear inner membrane, nuclear envelope, 23 12 32 64 15 103 44 21 33 ENSG00000189366 chr3 125929275 125937039 - ALG1L protein_coding 200810 GO:0005783, endoplasmic reticulum, GO:0000030, mannosyltransferase activity, GO:0097502, GO:0006486, mannosylation, protein glycosylation, 0 0 0 0 0 2 0 0 1 ENSG00000189367 chr6 127440343 127459391 - KIAA0408 protein_coding 9729 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000189369 chrX 51743431 51746232 + GSPT2 protein_coding This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]. 23708 GO:0018444, GO:0005829, translation release factor complex, cytosol, GO:0005525, GO:0005515, GO:0003924, GO:0003747, GO:0003723, GTP binding, protein binding, GTPase activity, translation release factor activity, RNA binding, GO:0007049, GO:0006412, GO:0002184, GO:0000184, cell cycle, translation, cytoplasmic translational termination, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 7 2 10 15 8 15 8 9 2 ENSG00000189372 chrX 108383398 108383993 + AL034369.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000189375 chr17 18635006 18661950 - TBC1D28 protein_coding 254272 GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000189376 chr8 123219957 123241398 - C8orf76 protein_coding 84933 8 15 13 6 1 0 9 7 9 ENSG00000189377 chr19 42428288 42443048 - CXCL17 protein_coding The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]. 284340 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0005515, protein binding, GO:0090026, GO:0090026, GO:0050728, GO:0050728, GO:0048246, GO:0030154, GO:0010759, GO:0010759, GO:0010575, GO:0010575, GO:0001525, GO:0000187, GO:0000187, positive regulation of monocyte chemotaxis, positive regulation of monocyte chemotaxis, negative regulation of inflammatory response, negative regulation of inflammatory response, macrophage chemotaxis, cell differentiation, positive regulation of macrophage chemotaxis, positive regulation of macrophage chemotaxis, positive regulation of vascular endothelial growth factor production, positive regulation of vascular endothelial growth factor production, angiogenesis, activation of MAPK activity, activation of MAPK activity, 0 0 0 0 1 0 0 0 0 ENSG00000189398 chr11 3390780 3391752 - OR7E12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000189401 chrX 70062491 70064179 + OTUD6A protein_coding Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]. 139562 GO:0008234, GO:0005515, GO:0004843, GO:0004843, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, GO:1990168, GO:1990168, GO:1990167, GO:1990167, GO:0035871, GO:0035871, GO:0035523, GO:0035523, GO:0016579, protein K33-linked deubiquitination, protein K33-linked deubiquitination, protein K27-linked deubiquitination, protein K27-linked deubiquitination, protein K11-linked deubiquitination, protein K11-linked deubiquitination, protein K29-linked deubiquitination, protein K29-linked deubiquitination, protein deubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000189403 chr13 30456704 30617597 - HMGB1 protein_coding This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]. 3146 GO:1904813, GO:0043005, GO:0035868, GO:0034774, GO:0017053, GO:0009986, GO:0005793, GO:0005769, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0005615, GO:0005576, GO:0000793, GO:0000785, ficolin-1-rich granule lumen, neuron projection, alphav-beta3 integrin-HMGB1 complex, secretory granule lumen, transcription repressor complex, cell surface, endoplasmic reticulum-Golgi intermediate compartment, early endosome, nucleoplasm, nucleus, nucleus, extracellular space, extracellular space, extracellular region, condensed chromosome, chromatin, GO:0097100, GO:0070491, GO:0070182, GO:0050786, GO:0042056, GO:0030295, GO:0019958, GO:0016829, GO:0010858, GO:0008301, GO:0008301, GO:0008301, GO:0008134, GO:0005515, GO:0005178, GO:0005125, GO:0003727, GO:0003725, GO:0003723, GO:0003713, GO:0003697, GO:0003690, GO:0003684, GO:0003684, GO:0001786, GO:0001530, GO:0000976, GO:0000405, GO:0000400, supercoiled DNA binding, repressing transcription factor binding, DNA polymerase binding, RAGE receptor binding, chemoattractant activity, protein kinase activator activity, C-X-C chemokine binding, lyase activity, calcium-dependent protein kinase regulator activity, DNA binding, bending, DNA binding, bending, DNA binding, bending, transcription factor binding, protein binding, integrin binding, cytokine activity, single-stranded RNA binding, double-stranded RNA binding, RNA binding, transcription coactivator activity, single-stranded DNA binding, double-stranded DNA binding, damaged DNA binding, damaged DNA binding, phosphatidylserine binding, lipopolysaccharide binding, transcription regulatory region sequence-specific DNA binding, bubble DNA binding, four-way junction DNA binding, GO:2001200, GO:2000819, GO:2000426, GO:2000343, GO:1905564, GO:1903672, GO:0098761, GO:0097350, GO:0090303, GO:0090026, GO:0071639, GO:0071222, GO:0070374, GO:0051384, GO:0051106, GO:0051103, GO:0050918, GO:0046330, GO:0045944, GO:0045819, GO:0045639, GO:0045087, GO:0045063, GO:0043537, GO:0043536, GO:0043410, GO:0043388, GO:0043371, GO:0043312, GO:0043280, GO:0043277, GO:0043065, GO:0042104, GO:0035767, GO:0035711, GO:0034165, GO:0034145, GO:0034137, GO:0033151, GO:0032757, GO:0032755, GO:0032735, GO:0032733, GO:0032732, GO:0032731, GO:0032728, GO:0032727, GO:0032689, GO:0032640, GO:0032425, GO:0032392, GO:0032147, GO:0032072, GO:0031497, GO:0031175, GO:0030324, GO:0017055, GO:0016032, GO:0010508, GO:0007204, GO:0006954, GO:0006914, GO:0006357, GO:0006357, GO:0006342, GO:0006310, GO:0006309, GO:0006284, GO:0006265, GO:0002840, GO:0002643, GO:0002437, GO:0002407, GO:0002281, GO:0002270, GO:0002224, GO:0002218, GO:0001935, GO:0001773, GO:0001654, GO:0000122, GO:0000122, positive regulation of dendritic cell differentiation, regulation of nucleotide-excision repair, negative regulation of apoptotic cell clearance, positive regulation of chemokine (C-X-C motif) ligand 2 production, positive regulation of vascular endothelial cell proliferation, positive regulation of sprouting angiogenesis, cellular response to interleukin-7, neutrophil clearance, positive regulation of wound healing, positive regulation of monocyte chemotaxis, positive regulation of monocyte chemotactic protein-1 production, cellular response to lipopolysaccharide, positive regulation of ERK1 and ERK2 cascade, response to glucocorticoid, positive regulation of DNA ligation, DNA ligation involved in DNA repair, positive chemotaxis, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, positive regulation of glycogen catabolic process, positive regulation of myeloid cell differentiation, innate immune response, T-helper 1 cell differentiation, negative regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, positive regulation of MAPK cascade, positive regulation of DNA binding, negative regulation of CD4-positive, alpha-beta T cell differentiation, neutrophil degranulation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic cell clearance, positive regulation of apoptotic process, positive regulation of activated T cell proliferation, endothelial cell chemotaxis, T-helper 1 cell activation, positive regulation of toll-like receptor 9 signaling pathway, positive regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 2 signaling pathway, V(D)J recombination, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interleukin-1 production, positive regulation of interleukin-1 beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, negative regulation of interferon-gamma production, tumor necrosis factor production, positive regulation of mismatch repair, DNA geometric change, activation of protein kinase activity, regulation of restriction endodeoxyribonuclease activity, chromatin assembly, neuron projection development, lung development, negative regulation of RNA polymerase II transcription preinitiation complex assembly, viral process, positive regulation of autophagy, positive regulation of cytosolic calcium ion concentration, inflammatory response, autophagy, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin silencing, DNA recombination, apoptotic DNA fragmentation, base-excision repair, DNA topological change, regulation of T cell mediated immune response to tumor cell, regulation of tolerance induction, inflammatory response to antigenic stimulus, dendritic cell chemotaxis, macrophage activation involved in immune response, plasmacytoid dendritic cell activation, toll-like receptor signaling pathway, activation of innate immune response, endothelial cell proliferation, myeloid dendritic cell activation, eye development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2417 1909 2813 1148 1569 1811 1263 1379 1434 ENSG00000189409 chr1 1632095 1635263 + MMP23B protein_coding This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. [provided by RefSeq, Jul 2008]. 8510 GO:0062023, GO:0031012, GO:0016021, GO:0005789, GO:0005615, collagen-containing extracellular matrix, extracellular matrix, integral component of membrane, endoplasmic reticulum membrane, extracellular space, GO:0008270, GO:0008237, GO:0004222, GO:0004222, GO:0004222, zinc ion binding, metallopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0030574, GO:0030198, GO:0006508, GO:0000003, collagen catabolic process, extracellular matrix organization, proteolysis, reproduction, 2 0 0 2 1 1 0 4 13 ENSG00000189410 chr1 20719732 20732837 - SH2D5 protein_coding 400745 GO:0014069, GO:0014069, postsynaptic density, postsynaptic density, 0 0 0 1 0 2 0 6 1 ENSG00000189419 chr15 100344047 100349822 - SPATA41 lincRNA 2 3 2 3 1 0 3 0 0 ENSG00000189420 chrX 153418322 153426481 + ZFP92 protein_coding 139735 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 41 38 80 26 15 32 22 15 41 ENSG00000189423 chr17 20415547 20431008 + USP32P3 transcribed_unprocessed_pseudogene 17 25 12 14 26 7 17 15 9 ENSG00000189430 chr19 54906150 54916140 + NCR1 protein_coding 9437 GO:0016514, GO:0005887, GO:0005886, SWI/SNF complex, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0050776, GO:0042269, GO:0030101, GO:0007165, GO:0006968, regulation of immune response, regulation of natural killer cell mediated cytotoxicity, natural killer cell activation, signal transduction, cellular defense response, 0 0 0 0 0 0 0 0 0 ENSG00000189431 chr11 13009577 13012106 + RASSF10 protein_coding 644943 GO:0005829, GO:0005815, GO:0000922, cytosol, microtubule organizing center, spindle pole, GO:0005515, protein binding, GO:2000179, GO:0050769, GO:0007165, positive regulation of neural precursor cell proliferation, positive regulation of neurogenesis, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000189433 chr1 34759741 34763724 + GJB4 protein_coding This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]. 127534 GO:0030054, GO:0005922, GO:0005922, GO:0005887, GO:0005730, GO:0005654, cell junction, connexin complex, connexin complex, integral component of plasma membrane, nucleolus, nucleoplasm, GO:0005515, GO:0005243, GO:0005243, protein binding, gap junction channel activity, gap junction channel activity, GO:1990349, GO:0055085, GO:0042048, GO:0007608, GO:0007267, GO:0007267, gap junction-mediated intercellular transport, transmembrane transport, olfactory behavior, sensory perception of smell, cell-cell signaling, cell-cell signaling, 0 5 0 0 0 0 0 0 0 ENSG00000194297 chr1 119331397 119331525 - RNU1-75P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000194717 chr14 101029634 101029714 + MIR494 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574452 GO:1903561, extracellular vesicle, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905652, GO:1903588, GO:0090051, GO:0048147, GO:0035195, GO:0035195, GO:0035195, GO:0010629, negative regulation of artery morphogenesis, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of fibroblast proliferation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000195024 chr7 21381363 21381506 + RNU1-15P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000195401 chr10 68735720 68735823 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000196071 chr1 248095184 248101103 + OR2L13 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 284521 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0008150, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, biological_process, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196072 chr10 100273280 100286712 - BLOC1S2 protein_coding This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. 282991 GO:1904115, GO:0099078, GO:0099078, GO:0031083, GO:0031083, GO:0005765, GO:0005739, GO:0000930, GO:0000930, axon cytoplasm, BORC complex, BORC complex, BLOC-1 complex, BLOC-1 complex, lysosomal membrane, mitochondrion, gamma-tubulin complex, gamma-tubulin complex, GO:0043015, GO:0043015, GO:0005515, gamma-tubulin binding, gamma-tubulin binding, protein binding, GO:0097345, GO:0060155, GO:0048490, GO:0032438, GO:0032418, GO:0032418, GO:0031175, GO:0016197, GO:0008625, GO:0008089, mitochondrial outer membrane permeabilization, platelet dense granule organization, anterograde synaptic vesicle transport, melanosome organization, lysosome localization, lysosome localization, neuron projection development, endosomal transport, extrinsic apoptotic signaling pathway via death domain receptors, anterograde axonal transport, 697 540 703 258 367 324 343 354 308 ENSG00000196074 chr20 59863563 59933655 - SYCP2 protein_coding The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008]. 10388 GO:0005634, GO:0000800, GO:0000800, GO:0000795, GO:0000779, nucleus, lateral element, lateral element, synaptonemal complex, condensed chromosome, centromeric region, GO:0003677, DNA binding, GO:0140013, GO:0051301, GO:0048808, GO:0043066, GO:0009566, GO:0007143, GO:0007140, GO:0007130, GO:0000080, meiotic nuclear division, cell division, male genitalia morphogenesis, negative regulation of apoptotic process, fertilization, female meiotic nuclear division, male meiotic nuclear division, synaptonemal complex assembly, mitotic G1 phase, 44 76 80 77 87 129 77 83 101 ENSG00000196081 chr19 23221599 23250390 - ZNF724 protein_coding 440519 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 1 1 0 0 0 0 6 5 ENSG00000196083 chr3 190514051 190659750 + IL1RAP protein_coding This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in membrane-bound and soluble isoforms differing in their C-terminus. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Jul 2018]. 3556 GO:0098978, GO:0016020, GO:0005887, GO:0005886, GO:0005576, glutamatergic synapse, membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0061809, GO:0050135, GO:0005149, GO:0004908, GO:0002114, NAD+ nucleotidase, cyclic ADP-ribose generating, NAD(P)+ nucleosidase activity, interleukin-1 receptor binding, interleukin-1 receptor activity, interleukin-33 receptor activity, GO:1905606, GO:0099560, GO:0099545, GO:0099151, GO:0070498, GO:0065003, GO:0051965, GO:0051092, GO:0045087, GO:0038172, GO:0032755, GO:0032754, GO:0032736, GO:0032633, GO:0032623, GO:0019221, GO:0006955, GO:0006954, regulation of presynapse assembly, synaptic membrane adhesion, trans-synaptic signaling by trans-synaptic complex, regulation of postsynaptic density assembly, interleukin-1-mediated signaling pathway, protein-containing complex assembly, positive regulation of synapse assembly, positive regulation of NF-kappaB transcription factor activity, innate immune response, interleukin-33-mediated signaling pathway, positive regulation of interleukin-6 production, positive regulation of interleukin-5 production, positive regulation of interleukin-13 production, interleukin-4 production, interleukin-2 production, cytokine-mediated signaling pathway, immune response, inflammatory response, 3499 3289 5119 1534 2687 2353 1725 1966 1759 ENSG00000196085 chr2 35219377 35219604 - AC013442.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196090 chr20 42072752 43189970 - PTPRT protein_coding The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]. 11122 GO:0016021, GO:0009986, GO:0005887, GO:0005886, integral component of membrane, cell surface, integral component of plasma membrane, plasma membrane, GO:0097677, GO:0070097, GO:0045296, GO:0045295, GO:0045294, GO:0042803, GO:0019903, GO:0008013, GO:0005515, GO:0005001, GO:0004725, GO:0004725, STAT family protein binding, delta-catenin binding, cadherin binding, gamma-catenin binding, alpha-catenin binding, protein homodimerization activity, protein phosphatase binding, beta-catenin binding, protein binding, transmembrane receptor protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, GO:1990264, GO:1904893, GO:1904893, GO:0071354, GO:0035335, GO:0030336, GO:0007169, GO:0007165, GO:0007156, GO:0007155, GO:0006470, GO:0006470, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, negative regulation of receptor signaling pathway via STAT, negative regulation of receptor signaling pathway via STAT, cellular response to interleukin-6, peptidyl-tyrosine dephosphorylation, negative regulation of cell migration, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, protein dephosphorylation, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000196091 chr12 101568353 101686018 + MYBPC1 protein_coding This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 4604 GO:0032982, GO:0030016, GO:0005829, myosin filament, myofibril, cytosol, GO:0031432, GO:0008307, GO:0005515, GO:0003779, titin binding, structural constituent of muscle, protein binding, actin binding, GO:0030049, GO:0007155, muscle filament sliding, cell adhesion, 0 0 3 0 0 4 1 0 1 ENSG00000196092 chr9 36833275 37034185 - PAX5 protein_coding This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 5079 GO:0043231, GO:0005829, GO:0005654, GO:0005654, GO:0001650, GO:0000785, GO:0000785, intracellular membrane-bounded organelle, cytosol, nucleoplasm, nucleoplasm, fibrillar center, chromatin, chromatin, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051573, GO:0050855, GO:0048856, GO:0048701, GO:0045944, GO:0035914, GO:0030534, GO:0021987, GO:0021670, GO:0009887, GO:0007568, GO:0007283, GO:0007275, GO:0006959, GO:0006366, GO:0006357, GO:0000122, negative regulation of histone H3-K9 methylation, regulation of B cell receptor signaling pathway, anatomical structure development, embryonic cranial skeleton morphogenesis, positive regulation of transcription by RNA polymerase II, skeletal muscle cell differentiation, adult behavior, cerebral cortex development, lateral ventricle development, animal organ morphogenesis, aging, spermatogenesis, multicellular organism development, humoral immune response, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 7 28 23 24 29 25 15 28 7 ENSG00000196096 chr2 213276552 213284205 - AC079610.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000196098 chr3 98353854 98354819 + OR5K4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403278 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196099 chr11 123805335 123806387 - OR6M1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390261 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196104 chr4 166733384 167234796 - SPOCK3 protein_coding This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]. 50859 GO:0005576, extracellular region, GO:0008191, GO:0005539, GO:0005509, metalloendopeptidase inhibitor activity, glycosaminoglycan binding, calcium ion binding, GO:2000146, GO:0019800, GO:0010951, negative regulation of cell motility, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, negative regulation of endopeptidase activity, 0 0 1 0 0 0 0 0 0 ENSG00000196109 chr19 22179091 22215775 - ZNF676 protein_coding 163223 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000196110 chr19 9294275 9309838 - ZNF699 protein_coding 374879 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 62 78 88 53 52 81 41 42 55 ENSG00000196114 chr6 34576258 34576656 - AL031577.1 processed_pseudogene 0 0 0 3 3 4 0 4 0 ENSG00000196115 chr8 39314591 39417378 + ADAM5 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196116 chr9 97411950 97496125 + TDRD7 protein_coding The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 23424 GO:0035770, GO:0033391, GO:0005759, GO:0005737, ribonucleoprotein granule, chromatoid body, mitochondrial matrix, cytoplasm, GO:0047485, GO:0005515, GO:0003729, protein N-terminus binding, protein binding, mRNA binding, GO:0070306, GO:0010608, GO:0007283, GO:0002089, lens fiber cell differentiation, posttranscriptional regulation of gene expression, spermatogenesis, lens morphogenesis in camera-type eye, 312 266 354 180 269 171 166 236 173 ENSG00000196118 chr16 30757423 30762710 - CCDC189 protein_coding 90835 271 240 303 187 322 316 231 233 167 ENSG00000196119 chr11 124566660 124582942 + OR8A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390275 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196123 chr16 67175602 67184040 - KIAA0895L protein_coding 653319 GO:0005515, protein binding, 10 21 28 20 19 51 24 14 30 ENSG00000196126 chr6 32578769 32589848 - HLA-DRB1 protein_coding HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]. 3123 GO:0071556, GO:0070062, GO:0042613, GO:0042613, GO:0032588, GO:0031902, GO:0030669, GO:0030666, GO:0030658, GO:0016020, GO:0016020, GO:0016020, GO:0012507, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005882, GO:0005765, GO:0005765, GO:0005615, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, MHC class II protein complex, MHC class II protein complex, trans-Golgi network membrane, late endosome membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, membrane, membrane, membrane, ER to Golgi transport vesicle membrane, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, intermediate filament, lysosomal membrane, lysosomal membrane, extracellular space, Golgi membrane, GO:0042609, GO:0042605, GO:0032395, GO:0032395, GO:0032395, GO:0030247, GO:0023026, GO:0005515, GO:0005200, CD4 receptor binding, peptide antigen binding, MHC class II receptor activity, MHC class II receptor activity, MHC class II receptor activity, polysaccharide binding, MHC class II protein complex binding, protein binding, structural constituent of cytoskeleton, GO:0070374, GO:0060333, GO:0051262, GO:0050852, GO:0046598, GO:0045893, GO:0045657, GO:0043410, GO:0043123, GO:0042130, GO:0042088, GO:0035774, GO:0033674, GO:0032689, GO:0032673, GO:0032653, GO:0030225, GO:0019886, GO:0016045, GO:0008544, GO:0007165, GO:0007165, GO:0007010, GO:0006955, GO:0006955, GO:0006955, GO:0006955, GO:0002862, GO:0002503, GO:0002455, GO:0002437, GO:0002381, GO:0001934, positive regulation of ERK1 and ERK2 cascade, interferon-gamma-mediated signaling pathway, protein tetramerization, T cell receptor signaling pathway, positive regulation of viral entry into host cell, positive regulation of transcription, DNA-templated, positive regulation of monocyte differentiation, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of T cell proliferation, T-helper 1 type immune response, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of kinase activity, negative regulation of interferon-gamma production, regulation of interleukin-4 production, regulation of interleukin-10 production, macrophage differentiation, antigen processing and presentation of exogenous peptide antigen via MHC class II, detection of bacterium, epidermis development, signal transduction, signal transduction, cytoskeleton organization, immune response, immune response, immune response, immune response, negative regulation of inflammatory response to antigenic stimulus, peptide antigen assembly with MHC class II protein complex, humoral immune response mediated by circulating immunoglobulin, inflammatory response to antigenic stimulus, immunoglobulin production involved in immunoglobulin-mediated immune response, positive regulation of protein phosphorylation, 65 1 0 125 0 0 68 1 0 ENSG00000196131 chr19 53258292 53261837 + VN1R2 protein_coding 317701 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0016503, pheromone receptor activity, GO:0019236, GO:0007186, response to pheromone, G protein-coupled receptor signaling pathway, 0 1 0 0 0 0 0 0 0 ENSG00000196132 chr20 64102394 64242253 + MYT1 protein_coding The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]. 4661 GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, nucleus, chromatin, GO:0008270, GO:0003700, GO:0000981, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0007399, GO:0006357, GO:0006355, cell differentiation, nervous system development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000196136 chr14 94612377 94624055 + SERPINA3 protein_coding The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020]. 12 GO:0072562, GO:0070062, GO:0062023, GO:0035578, GO:0034774, GO:0031093, GO:0005634, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, azurophil granule lumen, secretory granule lumen, platelet alpha granule lumen, nucleus, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0004867, GO:0004867, GO:0003677, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, DNA binding, GO:0043312, GO:0030277, GO:0019216, GO:0010951, GO:0006954, GO:0006953, GO:0002576, neutrophil degranulation, maintenance of gastrointestinal epithelium, regulation of lipid metabolic process, negative regulation of endopeptidase activity, inflammatory response, acute-phase response, platelet degranulation, 0 0 0 0 0 0 0 0 0 ENSG00000196139 chr10 5035354 5107686 + AKR1C3 protein_coding This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. 8644 GO:0070062, GO:0005829, GO:0005829, GO:0005737, GO:0005634, extracellular exosome, cytosol, cytosol, cytoplasm, nucleus, GO:0052650, GO:0047787, GO:0047718, GO:0047115, GO:0047086, GO:0047086, GO:0047045, GO:0047035, GO:0047023, GO:0047023, GO:0047020, GO:0047017, GO:0045703, GO:0045550, GO:0036131, GO:0036130, GO:0035410, GO:0032052, GO:0018636, GO:0016655, GO:0016229, GO:0004745, GO:0004033, GO:0004032, GO:0004032, GO:0001758, NADP-retinol dehydrogenase activity, delta4-3-oxosteroid 5beta-reductase activity, indanol dehydrogenase activity, trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity, ketosteroid monooxygenase activity, ketosteroid monooxygenase activity, testosterone 17-beta-dehydrogenase (NADP+) activity, testosterone dehydrogenase (NAD+) activity, androsterone dehydrogenase activity, androsterone dehydrogenase activity, 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity, prostaglandin-F synthase activity, ketoreductase activity, geranylgeranyl reductase activity, prostaglandin D2 11-ketoreductase activity, prostaglandin H2 endoperoxidase reductase activity, dihydrotestosterone 17-beta-dehydrogenase activity, bile acid binding, phenanthrene 9,10-monooxygenase activity, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, steroid dehydrogenase activity, retinol dehydrogenase activity, aldo-keto reductase (NADP) activity, alditol:NADP+ 1-oxidoreductase activity, alditol:NADP+ 1-oxidoreductase activity, retinal dehydrogenase activity, GO:2000379, GO:2000353, GO:2000224, GO:1900053, GO:0071799, GO:0071395, GO:0071384, GO:0071379, GO:0071277, GO:0071276, GO:0070293, GO:0061370, GO:0055114, GO:0055114, GO:0051897, GO:0048385, GO:0044598, GO:0044598, GO:0044597, GO:0044597, GO:0043170, GO:0042574, GO:0042572, GO:0042448, GO:0042448, GO:0034614, GO:0030216, GO:0019371, GO:0016488, GO:0010942, GO:0009267, GO:0008584, GO:0008284, GO:0008284, GO:0008202, GO:0008202, GO:0007584, GO:0007186, GO:0006693, GO:0006693, GO:0006693, GO:0001523, positive regulation of reactive oxygen species metabolic process, positive regulation of endothelial cell apoptotic process, regulation of testosterone biosynthetic process, negative regulation of retinoic acid biosynthetic process, cellular response to prostaglandin D stimulus, cellular response to jasmonic acid stimulus, cellular response to corticosteroid stimulus, cellular response to prostaglandin stimulus, cellular response to calcium ion, cellular response to cadmium ion, renal absorption, testosterone biosynthetic process, oxidation-reduction process, oxidation-reduction process, positive regulation of protein kinase B signaling, regulation of retinoic acid receptor signaling pathway, doxorubicin metabolic process, doxorubicin metabolic process, daunorubicin metabolic process, daunorubicin metabolic process, macromolecule metabolic process, retinal metabolic process, retinol metabolic process, progesterone metabolic process, progesterone metabolic process, cellular response to reactive oxygen species, keratinocyte differentiation, cyclooxygenase pathway, farnesol catabolic process, positive regulation of cell death, cellular response to starvation, male gonad development, positive regulation of cell population proliferation, positive regulation of cell population proliferation, steroid metabolic process, steroid metabolic process, response to nutrient, G protein-coupled receptor signaling pathway, prostaglandin metabolic process, prostaglandin metabolic process, prostaglandin metabolic process, retinoid metabolic process, 8 8 8 9 7 3 14 10 2 ENSG00000196141 chr2 200305881 200482263 + SPATS2L protein_coding 26010 GO:0032991, GO:0005829, GO:0005737, GO:0005730, GO:0005654, protein-containing complex, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:0003723, RNA binding, 14 3 3 6 9 18 21 6 15 ENSG00000196143 chr14 19180291 19181269 + OR11H13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196150 chr8 144876497 144902168 - ZNF250 protein_coding 58500 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 43 35 80 27 31 70 37 22 23 ENSG00000196151 chr2 159235793 159286799 - WDSUB1 protein_coding 151525 GO:0004842, ubiquitin-protein transferase activity, GO:0016567, protein ubiquitination, 8 9 19 7 2 27 18 7 9 ENSG00000196152 chr9 127424374 127445372 + ZNF79 protein_coding 7633 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, molecular_function, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0000122, biological_process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 36 39 32 25 22 17 9 23 20 ENSG00000196154 chr1 153543613 153550136 - S100A4 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. 6275 GO:0070062, GO:0062023, GO:0048471, GO:0048471, GO:0043005, GO:0005634, GO:0005634, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, perinuclear region of cytoplasm, perinuclear region of cytoplasm, neuron projection, nucleus, nucleus, extracellular space, extracellular region, GO:0050786, GO:0050786, GO:0048306, GO:0046914, GO:0042802, GO:0005515, GO:0005509, GO:0003779, GO:0003723, RAGE receptor binding, RAGE receptor binding, calcium-dependent protein binding, transition metal ion binding, identical protein binding, protein binding, calcium ion binding, actin binding, RNA binding, GO:0043123, GO:0043123, GO:0001837, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, epithelial to mesenchymal transition, 3058 4261 4975 1515 4628 3081 1679 4370 2807 ENSG00000196155 chr16 67277510 67289499 + PLEKHG4 protein_coding The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 25894 GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0090630, activation of GTPase activity, 6 6 8 33 9 20 23 11 14 ENSG00000196156 chr17 41167231 41168194 - KRTAP4-3 protein_coding 85290 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042633, GO:0031424, GO:0007568, hair cycle, keratinization, aging, 0 0 0 0 0 0 0 0 0 ENSG00000196159 chr4 125316399 125492932 + FAT4 protein_coding The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]. 79633 GO:0070062, GO:0016021, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0098609, GO:0035329, GO:0022008, GO:0021987, GO:0007157, GO:0007156, cell-cell adhesion, hippo signaling, neurogenesis, cerebral cortex development, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 1 2 1 7 5 0 4 1 0 ENSG00000196166 chr8 38510834 38560939 - C8orf86 protein_coding 389649 0 0 0 0 2 0 2 0 0 ENSG00000196167 chr11 111290787 111305045 - COLCA1 antisense This gene encodes a transmembrane protein that localizes to granular structures, including crystalloid eosinophilic granules and other granular organelles. This gene, along with an overlapping opposite strand gene, has been implicated as a susceptibility locus for colorectal cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 399948 GO:0016021, GO:0016020, integral component of membrane, membrane, 0 0 0 0 0 0 0 0 0 ENSG00000196169 chr17 74326210 74355820 + KIF19 protein_coding 124602 GO:0005930, GO:0005929, GO:0005874, GO:0005871, axoneme, cilium, microtubule, kinesin complex, GO:0016887, GO:0008574, GO:0008574, GO:0008017, GO:0005524, GO:0003777, ATPase activity, ATP-dependent microtubule motor activity, plus-end-directed, ATP-dependent microtubule motor activity, plus-end-directed, microtubule binding, ATP binding, microtubule motor activity, GO:0070462, GO:0060404, GO:0007018, plus-end specific microtubule depolymerization, axonemal microtubule depolymerization, microtubule-based movement, 3 2 26 15 3 7 8 3 13 ENSG00000196171 chr1 158699678 158700652 - OR6K2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81448 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196172 chr19 23739195 23758891 - ZNF681 protein_coding 148213 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 9 5 9 14 6 8 10 4 13 ENSG00000196177 chr10 123008979 123058311 + ACADSB protein_coding Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]. 36 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0102035, GO:0050660, GO:0042802, GO:0016937, GO:0003853, isobutyryl-CoA:FAD oxidoreductase activity, flavin adenine dinucleotide binding, identical protein binding, short-branched-chain-acyl-CoA dehydrogenase activity, 2-methylacyl-CoA dehydrogenase activity, GO:0055114, GO:0009083, GO:0006631, GO:0006550, oxidation-reduction process, branched-chain amino acid catabolic process, fatty acid metabolic process, isoleucine catabolic process, 46 57 66 116 47 126 79 39 74 ENSG00000196182 chr1 36339624 36385896 - STK40 protein_coding 83931 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, GO:0060425, GO:0048286, GO:0043408, GO:0043066, GO:0035264, GO:0010468, GO:0006468, GO:0005977, GO:0003016, lung morphogenesis, lung alveolus development, regulation of MAPK cascade, negative regulation of apoptotic process, multicellular organism growth, regulation of gene expression, protein phosphorylation, glycogen metabolic process, respiratory system process, 11730 10129 14583 3464 4703 3832 4322 4044 3681 ENSG00000196183 chr14 104835997 104836852 - RPS2P4 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000196184 chr1 159437845 159443078 + OR10J1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26476 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007606, GO:0007338, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, sensory perception of chemical stimulus, single fertilization, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196187 chr1 225845536 225882369 - TMEM63A protein_coding 9725 GO:0070821, GO:0070062, GO:0043231, GO:0035579, GO:0034451, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005765, GO:0005765, tertiary granule membrane, extracellular exosome, intracellular membrane-bounded organelle, specific granule membrane, centriolar satellite, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, lysosomal membrane, GO:1990760, GO:0008381, GO:0008381, GO:0005515, GO:0005227, GO:0003676, osmolarity-sensing cation channel activity, mechanosensitive ion channel activity, mechanosensitive ion channel activity, protein binding, calcium activated cation channel activity, nucleic acid binding, GO:0098655, GO:0043312, cation transmembrane transport, neutrophil degranulation, 601 591 1040 942 741 1296 957 534 1016 ENSG00000196188 chr1 206009264 206023909 - CTSE protein_coding This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]. 1510 GO:0005768, GO:0005768, endosome, endosome, GO:0042802, GO:0008233, GO:0004190, identical protein binding, peptidase activity, aspartic-type endopeptidase activity, GO:0019886, GO:0016540, GO:0006508, antigen processing and presentation of exogenous peptide antigen via MHC class II, protein autoprocessing, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000196189 chr1 156147366 156177752 + SEMA4A protein_coding This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]. 64218 GO:0005887, GO:0005886, GO:0005615, integral component of plasma membrane, plasma membrane, extracellular space, GO:0045499, GO:0030215, GO:0005515, chemorepellent activity, semaphorin receptor binding, protein binding, GO:1905704, GO:1904891, GO:0071526, GO:0050919, GO:0048843, GO:0045063, GO:0030335, GO:0016525, GO:0010594, GO:0008360, GO:0007411, GO:0001755, GO:0001525, positive regulation of inhibitory synapse assembly, positive regulation of excitatory synapse assembly, semaphorin-plexin signaling pathway, negative chemotaxis, negative regulation of axon extension involved in axon guidance, T-helper 1 cell differentiation, positive regulation of cell migration, negative regulation of angiogenesis, regulation of endothelial cell migration, regulation of cell shape, axon guidance, neural crest cell migration, angiogenesis, 1564 1491 1548 661 1089 788 835 857 680 ENSG00000196196 chr9 35906192 35907141 + HRCT1 protein_coding 646962 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000196199 chr13 19633681 19673459 + MPHOSPH8 protein_coding 54737 GO:0005886, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000792, GO:0000786, plasma membrane, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleus, heterochromatin, nucleosome, GO:0035064, GO:0005515, GO:0003682, methylated histone binding, protein binding, chromatin binding, GO:0090309, GO:0045892, GO:0045869, GO:0045814, GO:0044030, positive regulation of DNA methylation-dependent heterochromatin assembly, negative regulation of transcription, DNA-templated, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of gene expression, epigenetic, regulation of DNA methylation, 844 863 852 628 836 793 683 628 659 ENSG00000196204 chr7 4973988 5040675 + RNF216P1 transcribed_unprocessed_pseudogene 441191 17 20 18 22 16 21 32 19 27 ENSG00000196205 chr9 133019486 133020874 + EEF1A1P5 processed_pseudogene 551 456 1070 1717 674 1829 1492 657 1178 ENSG00000196208 chr2 11482341 11642788 + GREB1 protein_coding This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9687 GO:0070062, GO:0016021, GO:0005654, extracellular exosome, integral component of membrane, nucleoplasm, GO:0007275, multicellular organism development, 0 1 2 0 0 0 0 1 0 ENSG00000196209 chr20 1470741 1491587 - SIRPB2 protein_coding 284759 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 1227 1503 2557 379 991 1095 628 1011 996 ENSG00000196214 chr19 52269571 52296046 + ZNF766 protein_coding 90321 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0006355, regulation of transcription, DNA-templated, 267 255 269 78 56 112 57 83 81 ENSG00000196218 chr19 38433699 38587564 + RYR1 protein_coding This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 6261 GO:1990425, GO:0070062, GO:0042383, GO:0034704, GO:0033017, GO:0033017, GO:0033017, GO:0033017, GO:0031674, GO:0031301, GO:0030659, GO:0030315, GO:0030314, GO:0030018, GO:0016529, GO:0014802, GO:0014701, GO:0005938, GO:0005887, GO:0005886, GO:0005886, GO:0005790, GO:0005737, ryanodine receptor complex, extracellular exosome, sarcolemma, calcium channel complex, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, I band, integral component of organelle membrane, cytoplasmic vesicle membrane, T-tubule, junctional membrane complex, Z disc, sarcoplasmic reticulum, terminal cisterna, junctional sarcoplasmic reticulum membrane, cell cortex, integral component of plasma membrane, plasma membrane, plasma membrane, smooth endoplasmic reticulum, cytoplasm, GO:0048763, GO:0048763, GO:0015278, GO:0005524, GO:0005516, GO:0005515, GO:0005509, GO:0005509, GO:0005262, GO:0005245, GO:0005219, GO:0005219, GO:0005219, GO:0005219, GO:0005219, GO:0002020, calcium-induced calcium release activity, calcium-induced calcium release activity, calcium-release channel activity, ATP binding, calmodulin binding, protein binding, calcium ion binding, calcium ion binding, calcium channel activity, voltage-gated calcium channel activity, ryanodine-sensitive calcium-release channel activity, ryanodine-sensitive calcium-release channel activity, ryanodine-sensitive calcium-release channel activity, ryanodine-sensitive calcium-release channel activity, ryanodine-sensitive calcium-release channel activity, protease binding, GO:1903779, GO:0071313, GO:0071313, GO:0071277, GO:0051480, GO:0051289, GO:0051209, GO:0051209, GO:0051209, GO:0048741, GO:0043931, GO:0043588, GO:0034220, GO:0031000, GO:0014808, GO:0006936, GO:0006816, GO:0003151, GO:0001666, regulation of cardiac conduction, cellular response to caffeine, cellular response to caffeine, cellular response to calcium ion, regulation of cytosolic calcium ion concentration, protein homotetramerization, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, skeletal muscle fiber development, ossification involved in bone maturation, skin development, ion transmembrane transport, response to caffeine, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, muscle contraction, calcium ion transport, outflow tract morphogenesis, response to hypoxia, 0 3 10 9 3 16 6 0 4 ENSG00000196220 chr3 8980591 9363053 - SRGAP3 protein_coding 9901 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0030336, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, negative regulation of cell migration, signal transduction, 9 22 23 0 2 7 3 2 4 ENSG00000196224 chr11 1607565 1608463 - KRTAP5-3 protein_coding 387266 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000196227 chr20 59933764 59948680 + FAM217B protein_coding 63939 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0005515, protein binding, 359 267 358 75 162 176 93 147 105 ENSG00000196228 chr2 108247195 108265351 + SULT1C3 protein_coding 442038 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0050656, GO:0008146, GO:0005515, GO:0004062, GO:0004062, GO:0004027, 3'-phosphoadenosine 5'-phosphosulfate binding, sulfotransferase activity, protein binding, aryl sulfotransferase activity, aryl sulfotransferase activity, alcohol sulfotransferase activity, GO:0051923, GO:0050427, GO:0006805, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, xenobiotic metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000196230 chr6 30720201 30725426 + TUBB protein_coding This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]. 203068 GO:0070062, GO:0045121, GO:0044297, GO:0036464, GO:0035578, GO:0032991, GO:0005874, GO:0005874, GO:0005874, GO:0005856, GO:0005737, GO:0005737, GO:0005641, GO:0005634, GO:0005576, extracellular exosome, membrane raft, cell body, cytoplasmic ribonucleoprotein granule, azurophil granule lumen, protein-containing complex, microtubule, microtubule, microtubule, cytoskeleton, cytoplasm, cytoplasm, nuclear envelope lumen, nucleus, extracellular region, GO:0044877, GO:0042288, GO:0032794, GO:0031625, GO:0019904, GO:0005525, GO:0005515, GO:0005200, GO:0005198, GO:0003924, protein-containing complex binding, MHC class I protein binding, GTPase activating protein binding, ubiquitin protein ligase binding, protein domain specific binding, GTP binding, protein binding, structural constituent of cytoskeleton, structural molecule activity, GTPase activity, GO:0097711, GO:0051301, GO:0051225, GO:0043312, GO:0042267, GO:0030705, GO:0010389, GO:0009987, GO:0007017, GO:0000278, GO:0000226, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, neutrophil degranulation, natural killer cell mediated cytotoxicity, cytoskeleton-dependent intracellular transport, regulation of G2/M transition of mitotic cell cycle, cellular process, microtubule-based process, mitotic cell cycle, microtubule cytoskeleton organization, G2/M transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000196233 chr10 96832282 96995959 + LCOR protein_coding LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]. 84458 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:1990381, GO:1990226, GO:0042826, GO:0030331, GO:0005515, GO:0003714, GO:0003677, GO:0001226, ubiquitin-specific protease binding, histone methyltransferase binding, histone deacetylase binding, estrogen receptor binding, protein binding, transcription corepressor activity, DNA binding, RNA polymerase II transcription corepressor binding, GO:0071392, GO:0006357, GO:0000122, cellular response to estradiol stimulus, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1135 1326 1494 784 1249 1139 1023 1085 1210 ENSG00000196235 chr19 39436156 39476670 + SUPT5H protein_coding 6829 GO:0032044, GO:0032044, GO:0005654, GO:0005654, GO:0005634, DSIF complex, DSIF complex, nucleoplasm, nucleoplasm, nucleus, GO:0046982, GO:0019899, GO:0005515, GO:0003729, GO:0003723, GO:0003682, protein heterodimerization activity, enzyme binding, protein binding, mRNA binding, RNA binding, chromatin binding, GO:1900364, GO:0050434, GO:0045944, GO:0032786, GO:0032785, GO:0032785, GO:0016239, GO:0006370, GO:0006368, GO:0006368, GO:0006368, GO:0006368, GO:0006366, GO:0006357, GO:0000122, GO:0000122, negative regulation of mRNA polyadenylation, positive regulation of viral transcription, positive regulation of transcription by RNA polymerase II, positive regulation of DNA-templated transcription, elongation, negative regulation of DNA-templated transcription, elongation, negative regulation of DNA-templated transcription, elongation, positive regulation of macroautophagy, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1207 1414 1651 1044 1081 1239 1033 840 868 ENSG00000196236 chr22 40857077 40932815 + XPNPEP3 protein_coding The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011]. 63929 GO:0005739, GO:0005739, GO:0005737, mitochondrion, mitochondrion, cytoplasm, GO:0070006, GO:0042803, GO:0030145, GO:0008233, GO:0005515, GO:0004177, GO:0004177, metalloaminopeptidase activity, protein homodimerization activity, manganese ion binding, peptidase activity, protein binding, aminopeptidase activity, aminopeptidase activity, GO:0016485, GO:0006508, GO:0003094, protein processing, proteolysis, glomerular filtration, 101 70 65 79 131 105 94 99 77 ENSG00000196240 chr1 248445512 248455725 + OR2T2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401992 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196242 chr1 247524677 247536440 - OR2C3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81472 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196243 chr12 90918023 90948669 + LINC00615 lincRNA 439916 0 0 0 0 0 0 0 0 0 ENSG00000196247 chr7 64666083 64711582 + ZNF107 protein_coding This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 51427 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0046872, GO:0005515, GO:0003674, GO:0001228, GO:0000978, metal ion binding, protein binding, molecular_function, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0008150, GO:0006357, positive regulation of transcription by RNA polymerase II, biological_process, regulation of transcription by RNA polymerase II, 232 244 1748 187 154 590 156 127 571 ENSG00000196248 chr11 123976661 123977781 - OR10S1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219873 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196260 chr6 30931353 30955636 - SFTA2 protein_coding 389376 GO:0030133, GO:0005794, GO:0005576, transport vesicle, Golgi apparatus, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000196262 chr7 44796680 44824564 + PPIA protein_coding This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008]. 5478 GO:1904813, GO:0070062, GO:0070062, GO:0043231, GO:0034774, GO:0032991, GO:0031982, GO:0016020, GO:0005925, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0005615, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, extracellular exosome, intracellular membrane-bounded organelle, secretory granule lumen, protein-containing complex, vesicle, membrane, focal adhesion, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, extracellular space, extracellular region, extracellular region, GO:1904399, GO:0051082, GO:0046790, GO:0016018, GO:0016018, GO:0016018, GO:0005515, GO:0005178, GO:0003755, GO:0003755, GO:0003755, GO:0003723, heparan sulfate binding, unfolded protein binding, virion binding, cyclosporin A binding, cyclosporin A binding, cyclosporin A binding, protein binding, integrin binding, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, peptidyl-prolyl cis-trans isomerase activity, RNA binding, GO:2001233, GO:1903901, GO:1902176, GO:0075713, GO:0070527, GO:0061944, GO:0060352, GO:0051092, GO:0050900, GO:0050714, GO:0045070, GO:0045069, GO:0045069, GO:0043312, GO:0042118, GO:0035722, GO:0035307, GO:0034599, GO:0034389, GO:0032873, GO:0032148, GO:0030595, GO:0030593, GO:0030168, GO:0019076, GO:0019068, GO:0019064, GO:0019061, GO:0019058, GO:0006915, GO:0006915, GO:0006469, GO:0006457, GO:0006457, GO:0006278, GO:0001934, GO:0001933, GO:0000413, GO:0000413, GO:0000187, regulation of apoptotic signaling pathway, negative regulation of viral life cycle, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, establishment of integrated proviral latency, platelet aggregation, negative regulation of protein K48-linked ubiquitination, cell adhesion molecule production, positive regulation of NF-kappaB transcription factor activity, leukocyte migration, positive regulation of protein secretion, positive regulation of viral genome replication, regulation of viral genome replication, regulation of viral genome replication, neutrophil degranulation, endothelial cell activation, interleukin-12-mediated signaling pathway, positive regulation of protein dephosphorylation, cellular response to oxidative stress, lipid droplet organization, negative regulation of stress-activated MAPK cascade, activation of protein kinase B activity, leukocyte chemotaxis, neutrophil chemotaxis, platelet activation, viral release from host cell, virion assembly, fusion of virus membrane with host plasma membrane, uncoating of virus, viral life cycle, apoptotic process, apoptotic process, negative regulation of protein kinase activity, protein folding, protein folding, RNA-dependent DNA biosynthetic process, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, protein peptidyl-prolyl isomerization, protein peptidyl-prolyl isomerization, activation of MAPK activity, 472 490 868 1495 786 1761 981 529 1207 ENSG00000196263 chr19 56507843 56530221 + ZNF471 protein_coding 57573 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2 0 1 5 0 0 5 1 3 ENSG00000196266 chr1 159313670 159314659 - OR10J3 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 441911 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196267 chr19 52153864 52171643 - ZNF836 protein_coding 162962 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 25 24 43 69 42 52 54 31 27 ENSG00000196268 chr19 21397119 21427573 + ZNF493 protein_coding 284443 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 400 298 269 453 403 381 475 299 196 ENSG00000196273 chr14 100657250 100676069 + LINC00523 lincRNA 283601 0 0 0 0 0 0 0 0 0 ENSG00000196274 chr15 76230048 76230390 - RF00017 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000196275 chr7 74796144 74851551 - GTF2IRD2 protein_coding This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 84163 GO:0005634, nucleus, GO:0005515, GO:0003677, GO:0000981, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 12 11 19 28 22 21 30 10 15 ENSG00000196277 chr3 6770001 7741533 + GRM7 protein_coding L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. 2917 GO:0048786, GO:0045211, GO:0043235, GO:0043198, GO:0032279, GO:0030425, GO:0030424, GO:0016021, GO:0005938, GO:0005887, GO:0005887, GO:0005886, presynaptic active zone, postsynaptic membrane, receptor complex, dendritic shaft, asymmetric synapse, dendrite, axon, integral component of membrane, cell cortex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0070905, GO:0010855, GO:0008066, GO:0008066, GO:0001642, GO:0001642, serine binding, adenylate cyclase inhibitor activity, glutamate receptor activity, glutamate receptor activity, group III metabotropic glutamate receptor activity, group III metabotropic glutamate receptor activity, GO:0051966, GO:0031279, GO:0014050, GO:0007605, GO:0007268, GO:0007216, GO:0007196, GO:0007186, GO:0001662, regulation of synaptic transmission, glutamatergic, regulation of cyclase activity, negative regulation of glutamate secretion, sensory perception of sound, chemical synaptic transmission, G protein-coupled glutamate receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway, G protein-coupled receptor signaling pathway, behavioral fear response, 0 0 0 2 0 0 0 0 0 ENSG00000196284 chr6 44809317 45377953 - SUPT3H protein_coding 8464 GO:0033276, GO:0030914, GO:0030914, GO:0005654, GO:0005634, transcription factor TFTC complex, STAGA complex, STAGA complex, nucleoplasm, nucleus, GO:0046982, GO:0003713, GO:0003713, protein heterodimerization activity, transcription coactivator activity, transcription coactivator activity, GO:0045893, GO:0043966, GO:0043966, GO:0016578, GO:0006366, GO:0006357, GO:0006355, positive regulation of transcription, DNA-templated, histone H3 acetylation, histone H3 acetylation, histone deubiquitination, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 5 4 5 38 7 23 15 9 4 ENSG00000196289 chr1 241957767 241959062 + BECN2 protein_coding 441925 GO:0034272, GO:0034271, GO:0000407, phosphatidylinositol 3-kinase complex, class III, type II, phosphatidylinositol 3-kinase complex, class III, type I, phagophore assembly site, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:1990172, GO:1990172, GO:0045324, GO:0042593, GO:0008333, GO:0006995, GO:0006914, GO:0000045, G protein-coupled receptor catabolic process, G protein-coupled receptor catabolic process, late endosome to vacuole transport, glucose homeostasis, endosome to lysosome transport, cellular response to nitrogen starvation, autophagy, autophagosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000196290 chr2 200889327 200903930 + NIF3L1 protein_coding 60491 GO:0005739, GO:0005737, GO:0005737, GO:0005634, mitochondrion, cytoplasm, cytoplasm, nucleus, GO:0042802, GO:0008134, GO:0005515, identical protein binding, transcription factor binding, protein binding, GO:1903507, GO:0045893, GO:0030182, negative regulation of nucleic acid-templated transcription, positive regulation of transcription, DNA-templated, neuron differentiation, 16 16 26 38 9 20 16 18 58 ENSG00000196295 chr7 30516309 30594809 - GARS-DT processed_transcript 1187 1182 1471 1456 1562 1735 1647 1107 1458 ENSG00000196296 chr16 28878405 28904509 + ATP2A1 protein_coding This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]. 487 GO:0034704, GO:0033017, GO:0033017, GO:0033017, GO:0033017, GO:0031095, GO:0016529, GO:0016021, GO:0016021, GO:0005789, GO:0005739, calcium channel complex, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, platelet dense tubular network membrane, sarcoplasmic reticulum, integral component of membrane, integral component of membrane, endoplasmic reticulum membrane, mitochondrion, GO:0042803, GO:0030899, GO:0016887, GO:0008553, GO:0005524, GO:0005515, GO:0005509, GO:0005388, GO:0005388, protein homodimerization activity, calcium-dependent ATPase activity, ATPase activity, proton-exporting ATPase activity, phosphorylative mechanism, ATP binding, protein binding, calcium ion binding, calcium transmembrane transporter activity, phosphorylative mechanism, calcium transmembrane transporter activity, phosphorylative mechanism, GO:1990036, GO:1903779, GO:1902600, GO:1902082, GO:1901896, GO:0106134, GO:0090076, GO:0070588, GO:0070509, GO:0070059, GO:0051659, GO:0051561, GO:0034976, GO:0034220, GO:0032471, GO:0032470, GO:0031448, GO:0008637, GO:0006874, GO:0006816, calcium ion import into sarcoplasmic reticulum, regulation of cardiac conduction, proton transmembrane transport, positive regulation of calcium ion import into sarcoplasmic reticulum, positive regulation of ATPase-coupled calcium transmembrane transporter activity, positive regulation of cardiac muscle cell contraction, relaxation of skeletal muscle, calcium ion transmembrane transport, calcium ion import, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, maintenance of mitochondrion location, positive regulation of mitochondrial calcium ion concentration, response to endoplasmic reticulum stress, ion transmembrane transport, negative regulation of endoplasmic reticulum calcium ion concentration, positive regulation of endoplasmic reticulum calcium ion concentration, positive regulation of fast-twitch skeletal muscle fiber contraction, apoptotic mitochondrial changes, cellular calcium ion homeostasis, calcium ion transport, 28 36 22 47 54 58 29 35 26 ENSG00000196301 chr6 32459821 32473500 - HLA-DRB9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196302 chr5 70516387 70555266 - AC146944.1 unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000196305 chr9 92210207 92293756 - IARS protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]. 3376 GO:0070062, GO:0017101, GO:0016020, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, aminoacyl-tRNA synthetase multienzyme complex, membrane, cytosol, cytosol, cytoplasm, GO:0051020, GO:0005524, GO:0005515, GO:0004822, GO:0004822, GO:0004822, GO:0002161, GO:0000049, GTPase binding, ATP binding, protein binding, isoleucine-tRNA ligase activity, isoleucine-tRNA ligase activity, isoleucine-tRNA ligase activity, aminoacyl-tRNA editing activity, tRNA binding, GO:0106074, GO:0006428, GO:0006428, GO:0006418, GO:0001649, aminoacyl-tRNA metabolism involved in translational fidelity, isoleucyl-tRNA aminoacylation, isoleucyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, osteoblast differentiation, 38 15 78 110 36 106 116 33 74 ENSG00000196312 chr9 96887373 97013708 - MFSD14C protein_coding 84278 GO:0016021, integral component of membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, transmembrane transport, 150 113 174 189 207 266 256 158 191 ENSG00000196313 chr7 72879365 72951440 + POM121 protein_coding This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]. 9883 GO:0043657, GO:0031965, GO:0016021, GO:0005789, GO:0005654, GO:0005643, GO:0005635, host cell, nuclear membrane, integral component of membrane, endoplasmic reticulum membrane, nucleoplasm, nuclear pore, nuclear envelope, GO:0017056, GO:0008139, GO:0005515, structural constituent of nuclear pore, nuclear localization sequence binding, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006606, GO:0006409, GO:0006406, GO:0006405, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, regulation of glycolytic process, 602 713 798 424 668 591 525 530 482 ENSG00000196323 chr11 130226677 130314908 - ZBTB44 protein_coding 29068 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 662 884 946 293 439 506 427 404 408 ENSG00000196329 chr7 150722253 150750033 + GIMAP5 protein_coding This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010]. 55340 GO:0032585, GO:0016021, GO:0005765, multivesicular body membrane, integral component of membrane, lysosomal membrane, GO:0005525, GO:0005515, GTP binding, protein binding, 43 19 78 27 11 40 25 4 19 ENSG00000196335 chr7 23710167 23832513 + STK31 protein_coding This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 56164 GO:0005737, GO:0005634, GO:0001669, cytoplasm, nucleus, acrosomal vesicle, GO:0106311, GO:0106310, GO:0005524, GO:0004518, protein threonine kinase activity, protein serine kinase activity, ATP binding, nuclease activity, GO:0090305, GO:0006468, nucleic acid phosphodiester bond hydrolysis, protein phosphorylation, 1 0 0 2 0 3 2 0 0 ENSG00000196337 chr19 49054275 49058860 - CGB7 protein_coding This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]. 94027 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0005179, hormone activity, GO:0009755, GO:0007292, GO:0007267, GO:0007186, GO:0007165, GO:0006915, hormone-mediated signaling pathway, female gamete generation, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000196338 chrX 71144831 71171201 + NLGN3 protein_coding This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]. 54413 GO:0099055, GO:0098985, GO:0098983, GO:0098793, GO:0089717, GO:0060076, GO:0045202, GO:0045202, GO:0030139, GO:0009986, GO:0009986, GO:0005887, GO:0005886, integral component of postsynaptic membrane, asymmetric, glutamatergic, excitatory synapse, symmetric, GABA-ergic, inhibitory synapse, presynapse, spanning component of membrane, excitatory synapse, synapse, synapse, endocytic vesicle, cell surface, cell surface, integral component of plasma membrane, plasma membrane, GO:0097110, GO:0050839, GO:0042043, GO:0042043, GO:0038023, GO:0038023, GO:0005515, scaffold protein binding, cell adhesion molecule binding, neurexin family protein binding, neurexin family protein binding, signaling receptor activity, signaling receptor activity, protein binding, GO:2000969, GO:2000809, GO:2000463, GO:2000331, GO:2000310, GO:1900271, GO:0099054, GO:0097105, GO:0097105, GO:0097104, GO:0097104, GO:0090394, GO:0071625, GO:0061002, GO:0060291, GO:0060080, GO:0060079, GO:0060024, GO:0051968, GO:0051965, GO:0050808, GO:0050804, GO:0050804, GO:0048709, GO:0048675, GO:0048488, GO:0035176, GO:0030534, GO:0008542, GO:0007612, GO:0007416, GO:0007268, GO:0007158, GO:0007158, GO:0006898, GO:0002087, positive regulation of AMPA receptor activity, positive regulation of synaptic vesicle clustering, positive regulation of excitatory postsynaptic potential, regulation of terminal button organization, regulation of NMDA receptor activity, regulation of long-term synaptic potentiation, presynapse assembly, presynaptic membrane assembly, presynaptic membrane assembly, postsynaptic membrane assembly, postsynaptic membrane assembly, negative regulation of excitatory postsynaptic potential, vocalization behavior, negative regulation of dendritic spine morphogenesis, long-term synaptic potentiation, inhibitory postsynaptic potential, excitatory postsynaptic potential, rhythmic synaptic transmission, positive regulation of synaptic transmission, glutamatergic, positive regulation of synapse assembly, synapse organization, modulation of chemical synaptic transmission, modulation of chemical synaptic transmission, oligodendrocyte differentiation, axon extension, synaptic vesicle endocytosis, social behavior, adult behavior, visual learning, learning, synapse assembly, chemical synaptic transmission, neuron cell-cell adhesion, neuron cell-cell adhesion, receptor-mediated endocytosis, regulation of respiratory gaseous exchange by nervous system process, 271 244 215 343 394 294 381 218 227 ENSG00000196341 chr11 124302831 124315099 - OR8D1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 283159 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196344 chr4 99412261 99435737 - ADH7 protein_coding This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. 131 GO:0005886, GO:0005829, GO:0005829, GO:0005829, plasma membrane, cytosol, cytosol, cytosol, GO:0050153, GO:0048019, GO:0035276, GO:0019841, GO:0008270, GO:0004745, GO:0004745, GO:0004031, GO:0004024, GO:0004024, GO:0004022, omega-hydroxydecanoate dehydrogenase activity, receptor antagonist activity, ethanol binding, retinol binding, zinc ion binding, retinol dehydrogenase activity, retinol dehydrogenase activity, aldehyde oxidase activity, alcohol dehydrogenase activity, zinc-dependent, alcohol dehydrogenase activity, zinc-dependent, alcohol dehydrogenase (NAD+) activity, GO:2000272, GO:0055114, GO:0045471, GO:0042573, GO:0042572, GO:0010430, GO:0009617, GO:0006069, GO:0006069, GO:0006069, GO:0006068, GO:0001523, negative regulation of signaling receptor activity, oxidation-reduction process, response to ethanol, retinoic acid metabolic process, retinol metabolic process, fatty acid omega-oxidation, response to bacterium, ethanol oxidation, ethanol oxidation, ethanol oxidation, ethanol catabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000196345 chr3 44555193 44594173 + ZKSCAN7 protein_coding 55888 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 7 22 4 17 27 7 8 7 ENSG00000196350 chr19 22286408 22317176 + ZNF729 protein_coding 100287226 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000196352 chr1 207321376 207386804 + CD55 protein_coding This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins. [provided by RefSeq, Jul 2014]. 1604 GO:0101003, GO:0070062, GO:0045121, GO:0033116, GO:0031225, GO:0030667, GO:0030133, GO:0009986, GO:0005886, GO:0005886, GO:0005576, GO:0000139, ficolin-1-rich granule membrane, extracellular exosome, membrane raft, endoplasmic reticulum-Golgi intermediate compartment membrane, anchored component of membrane, secretory granule membrane, transport vesicle, cell surface, plasma membrane, plasma membrane, extracellular region, Golgi membrane, GO:0008289, GO:0005515, GO:0001618, lipid binding, protein binding, virus receptor activity, GO:2000563, GO:2000516, GO:1903659, GO:0046718, GO:0045916, GO:0045916, GO:0045730, GO:0045087, GO:0043312, GO:0035743, GO:0031664, GO:0030449, GO:0030449, GO:0007204, GO:0006958, GO:0006888, positive regulation of CD4-positive, alpha-beta T cell proliferation, positive regulation of CD4-positive, alpha-beta T cell activation, regulation of complement-dependent cytotoxicity, viral entry into host cell, negative regulation of complement activation, negative regulation of complement activation, respiratory burst, innate immune response, neutrophil degranulation, CD4-positive, alpha-beta T cell cytokine production, regulation of lipopolysaccharide-mediated signaling pathway, regulation of complement activation, regulation of complement activation, positive regulation of cytosolic calcium ion concentration, complement activation, classical pathway, endoplasmic reticulum to Golgi vesicle-mediated transport, 9915 9760 14202 4821 6369 7423 5959 5469 6378 ENSG00000196353 chr3 131533555 132285410 - CPNE4 protein_coding This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 131034 GO:0070062, GO:0005886, extracellular exosome, plasma membrane, GO:0046872, GO:0005544, GO:0005515, metal ion binding, calcium-dependent phospholipid binding, protein binding, GO:0071277, cellular response to calcium ion, 1 3 3 0 0 0 0 2 0 ENSG00000196357 chr19 36182060 36246257 - ZNF565 protein_coding 147929 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 24 26 25 28 22 21 34 15 30 ENSG00000196358 chr9 132161676 132244534 + NTNG2 protein_coding 84628 GO:0099029, GO:0098978, GO:0098685, GO:0090543, GO:0046658, GO:0045171, GO:0043256, GO:0030424, GO:0005886, GO:0005886, GO:0005576, anchored component of presynaptic active zone membrane, glutamatergic synapse, Schaffer collateral - CA1 synapse, Flemming body, anchored component of plasma membrane, intercellular bridge, laminin complex, axon, plasma membrane, plasma membrane, extracellular region, GO:0005515, GO:0003674, protein binding, molecular_function, GO:2001222, GO:0150011, GO:0070831, GO:0050804, GO:0034446, GO:0016477, GO:0010975, GO:0009888, GO:0009887, GO:0007409, regulation of neuron migration, regulation of neuron projection arborization, basement membrane assembly, modulation of chemical synaptic transmission, substrate adhesion-dependent cell spreading, cell migration, regulation of neuron projection development, tissue development, animal organ morphogenesis, axonogenesis, 1067 1104 1919 702 1090 1480 888 820 1319 ENSG00000196361 chr19 11451326 11481046 - ELAVL3 protein_coding A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1995 GO:1990904, ribonucleoprotein complex, GO:0035925, mRNA 3'-UTR AU-rich region binding, GO:0030154, GO:0007399, cell differentiation, nervous system development, 0 0 0 1 1 0 2 0 0 ENSG00000196363 chr9 134135365 134159968 + WDR5 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. 11091 GO:0071339, GO:0048188, GO:0048188, GO:0044666, GO:0035097, GO:0005671, GO:0005654, GO:0005654, GO:0005634, GO:0000123, MLL1 complex, Set1C/COMPASS complex, Set1C/COMPASS complex, MLL3/4 complex, histone methyltransferase complex, Ada2/Gcn5/Ada3 transcription activator complex, nucleoplasm, nucleoplasm, nucleus, histone acetyltransferase complex, GO:0046972, GO:0043996, GO:0043995, GO:0042800, GO:0042393, GO:0035064, GO:0005515, histone acetyltransferase activity (H4-K16 specific), histone acetyltransferase activity (H4-K8 specific), histone acetyltransferase activity (H4-K5 specific), histone methyltransferase activity (H3-K4 specific), histone binding, methylated histone binding, protein binding, GO:0051572, GO:0051571, GO:0051568, GO:0051568, GO:0045722, GO:0045652, GO:0043984, GO:0043982, GO:0043981, GO:0043966, GO:0043687, GO:0031175, GO:0001501, negative regulation of histone H3-K4 methylation, positive regulation of histone H3-K4 methylation, histone H3-K4 methylation, histone H3-K4 methylation, positive regulation of gluconeogenesis, regulation of megakaryocyte differentiation, histone H4-K16 acetylation, histone H4-K8 acetylation, histone H4-K5 acetylation, histone H3 acetylation, post-translational protein modification, neuron projection development, skeletal system development, 35 30 52 81 47 69 21 31 41 ENSG00000196364 chr16 1260952 1263845 - PRSS29P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196365 chr19 5691834 5720572 - LONP1 protein_coding This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]. 9361 GO:0042645, GO:0016020, GO:0005829, GO:0005759, GO:0005759, GO:0005739, GO:0005654, mitochondrial nucleoid, membrane, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, nucleoplasm, GO:0070182, GO:0051880, GO:0043565, GO:0043531, GO:0042802, GO:0016887, GO:0005524, GO:0005515, GO:0004252, GO:0004176, GO:0004176, GO:0004176, GO:0003727, GO:0003697, GO:0001018, GO:0001018, DNA polymerase binding, G-quadruplex DNA binding, sequence-specific DNA binding, ADP binding, identical protein binding, ATPase activity, ATP binding, protein binding, serine-type endopeptidase activity, ATP-dependent peptidase activity, ATP-dependent peptidase activity, ATP-dependent peptidase activity, single-stranded RNA binding, single-stranded DNA binding, mitochondrial promoter sequence-specific DNA binding, mitochondrial promoter sequence-specific DNA binding, GO:0070407, GO:0051603, GO:0051131, GO:0034599, GO:0034599, GO:0032042, GO:0010044, GO:0009725, GO:0007568, GO:0007005, GO:0007005, GO:0006515, GO:0001666, GO:0000002, oxidation-dependent protein catabolic process, proteolysis involved in cellular protein catabolic process, chaperone-mediated protein complex assembly, cellular response to oxidative stress, cellular response to oxidative stress, mitochondrial DNA metabolic process, response to aluminum ion, response to hormone, aging, mitochondrion organization, mitochondrion organization, protein quality control for misfolded or incompletely synthesized proteins, response to hypoxia, mitochondrial genome maintenance, 44 55 101 482 375 318 339 229 136 ENSG00000196366 chr9 136483495 136486067 + C9orf163 lincRNA 158055 0 1 1 0 1 0 0 0 2 ENSG00000196367 chr7 98877933 99050831 + TRRAP protein_coding This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. 8295 GO:0035267, GO:0035267, GO:0033276, GO:0030914, GO:0005794, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000812, GO:0000125, GO:0000124, NuA4 histone acetyltransferase complex, NuA4 histone acetyltransferase complex, transcription factor TFTC complex, STAGA complex, Golgi apparatus, nucleoplasm, nucleoplasm, nucleus, nucleus, Swr1 complex, PCAF complex, SAGA complex, GO:0016301, GO:0005515, GO:0003712, GO:0003712, kinase activity, protein binding, transcription coregulator activity, transcription coregulator activity, GO:1904837, GO:0043968, GO:0043967, GO:0016579, GO:0016578, GO:0016573, GO:0016310, GO:0006355, GO:0006281, beta-catenin-TCF complex assembly, histone H2A acetylation, histone H4 acetylation, protein deubiquitination, histone deubiquitination, histone acetylation, phosphorylation, regulation of transcription, DNA-templated, DNA repair, 741 788 1115 539 574 593 701 441 673 ENSG00000196368 chrX 51490011 51496596 - NUDT11 protein_coding NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008]. 55190 GO:0005829, GO:0005829, GO:0005737, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, GO:0052842, GO:0052840, GO:0050072, GO:0046872, GO:0034432, GO:0034431, GO:0008486, GO:0008486, GO:0005515, GO:0000298, inositol diphosphate pentakisphosphate diphosphatase activity, inositol diphosphate tetrakisphosphate diphosphatase activity, m7G(5')pppN diphosphatase activity, metal ion binding, bis(5'-adenosyl)-pentaphosphatase activity, bis(5'-adenosyl)-hexaphosphatase activity, diphosphoinositol-polyphosphate diphosphatase activity, diphosphoinositol-polyphosphate diphosphatase activity, protein binding, endopolyphosphatase activity, GO:1901911, GO:1901909, GO:1901907, GO:0071543, GO:0043647, adenosine 5'-(hexahydrogen pentaphosphate) catabolic process, diadenosine hexaphosphate catabolic process, diadenosine pentaphosphate catabolic process, diphosphoinositol polyphosphate metabolic process, inositol phosphate metabolic process, 0 0 0 12 0 1 1 3 0 ENSG00000196369 chr1 144887265 145095528 - SRGAP2B protein_coding This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012]. 647135 GO:0005737, cytoplasm, GO:0031267, small GTPase binding, GO:0030336, GO:0007399, negative regulation of cell migration, nervous system development, 214 232 208 121 178 138 146 156 181 ENSG00000196371 chr11 94543840 94549898 + FUT4 protein_coding The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009]. 2526 GO:0071944, GO:0032580, GO:0016021, GO:0016020, GO:0009986, GO:0005802, GO:0005794, cell periphery, Golgi cisterna membrane, integral component of membrane, membrane, cell surface, trans-Golgi network, Golgi apparatus, GO:0046920, GO:0046920, GO:0017083, GO:0017083, GO:0008417, alpha-(1->3)-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity, fucosyltransferase activity, GO:1903238, GO:1903037, GO:0042355, GO:0036065, GO:0009311, GO:0006486, GO:0006486, GO:0005975, positive regulation of leukocyte tethering or rolling, regulation of leukocyte cell-cell adhesion, L-fucose catabolic process, fucosylation, oligosaccharide metabolic process, protein glycosylation, protein glycosylation, carbohydrate metabolic process, 214 59 363 49 20 109 128 29 122 ENSG00000196372 chr10 5638867 5666595 - ASB13 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]. 79754 GO:0005829, cytosol, GO:0005515, protein binding, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 1 1 1 5 7 12 5 7 4 ENSG00000196376 chr6 117907526 118317676 + SLC35F1 protein_coding 222553 GO:0016021, integral component of membrane, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:0055085, transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000196378 chr8 144773114 144787345 - ZNF34 protein_coding 80778 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 7 5 15 13 7 17 6 17 21 ENSG00000196381 chr19 37667751 37692322 - ZNF781 protein_coding 163115 GO:0005634, nucleus, GO:0046872, GO:0003677, metal ion binding, DNA binding, 0 0 0 0 0 0 5 2 0 ENSG00000196383 chr14 19999913 20004760 + OR4Q2 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196387 chr12 133079838 133107544 + ZNF140 protein_coding 7699 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0001227, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 210 196 263 216 211 235 211 130 120 ENSG00000196388 chr17 4988130 4997610 - INCA1 protein_coding 388324 GO:0016604, GO:0005737, GO:0005737, GO:0005654, GO:0005634, nuclear body, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0044877, GO:0042802, GO:0030332, GO:0030332, GO:0030332, GO:0005515, GO:0004861, GO:0004861, protein-containing complex binding, identical protein binding, cyclin binding, cyclin binding, cyclin binding, protein binding, cyclin-dependent protein serine/threonine kinase inhibitor activity, cyclin-dependent protein serine/threonine kinase inhibitor activity, GO:2001235, GO:0045736, GO:0045736, GO:0008285, positive regulation of apoptotic signaling pathway, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of cell population proliferation, 9 8 15 10 6 9 14 10 13 ENSG00000196390 chr5 74929880 74930566 + AC116337.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196391 chr15 90352245 90369146 + ZNF774 protein_coding 342132 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 1 0 4 1 2 ENSG00000196395 chrX 52824269 52829267 - AC244505.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196396 chr20 50510321 50585241 + PTPN1 protein_coding The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]. 5770 GO:0098554, GO:0097443, GO:0032991, GO:0030061, GO:0005886, GO:0005829, GO:0005783, GO:0005769, GO:0005759, cytoplasmic side of endoplasmic reticulum membrane, sorting endosome, protein-containing complex, mitochondrial crista, plasma membrane, cytosol, endoplasmic reticulum, early endosome, mitochondrial matrix, GO:0051721, GO:0046875, GO:0045296, GO:0030971, GO:0019901, GO:0019899, GO:0008270, GO:0005515, GO:0005158, GO:0004725, GO:0004725, GO:0003723, protein phosphatase 2A binding, ephrin receptor binding, cadherin binding, receptor tyrosine kinase binding, protein kinase binding, enzyme binding, zinc ion binding, protein binding, insulin receptor binding, protein tyrosine phosphatase activity, protein tyrosine phosphatase activity, RNA binding, GO:2000646, GO:1990264, GO:1903898, GO:1903896, GO:1902236, GO:1902202, GO:0070373, GO:0061098, GO:0060397, GO:0060338, GO:0046627, GO:0043407, GO:0036498, GO:0035791, GO:0035335, GO:0035335, GO:0034620, GO:0033157, GO:0031532, GO:0030968, GO:0030948, GO:0030100, GO:0009968, GO:0009966, GO:0008286, GO:0007257, GO:0006470, positive regulation of receptor catabolic process, peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity, negative regulation of PERK-mediated unfolded protein response, positive regulation of IRE1-mediated unfolded protein response, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, regulation of hepatocyte growth factor receptor signaling pathway, negative regulation of ERK1 and ERK2 cascade, positive regulation of protein tyrosine kinase activity, growth hormone receptor signaling pathway via JAK-STAT, regulation of type I interferon-mediated signaling pathway, negative regulation of insulin receptor signaling pathway, negative regulation of MAP kinase activity, IRE1-mediated unfolded protein response, platelet-derived growth factor receptor-beta signaling pathway, peptidyl-tyrosine dephosphorylation, peptidyl-tyrosine dephosphorylation, cellular response to unfolded protein, regulation of intracellular protein transport, actin cytoskeleton reorganization, endoplasmic reticulum unfolded protein response, negative regulation of vascular endothelial growth factor receptor signaling pathway, regulation of endocytosis, negative regulation of signal transduction, regulation of signal transduction, insulin receptor signaling pathway, activation of JUN kinase activity, protein dephosphorylation, 1078 1061 1251 413 530 646 483 473 451 ENSG00000196403 chr11 124158421 124159356 + OR10D1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196405 chr14 99971449 100144236 + EVL protein_coding 51466 GO:0045335, GO:0030027, GO:0016020, GO:0005925, GO:0005856, GO:0005829, GO:0005737, phagocytic vesicle, lamellipodium, membrane, focal adhesion, cytoskeleton, cytosol, cytoplasm, GO:0017124, GO:0017124, GO:0005522, GO:0005522, GO:0005515, GO:0003779, SH3 domain binding, SH3 domain binding, profilin binding, profilin binding, protein binding, actin binding, GO:1900028, GO:0071346, GO:0051496, GO:0051289, GO:0045010, GO:0030838, GO:0010633, GO:0009887, GO:0008154, GO:0008154, GO:0007411, GO:0007399, GO:0007166, GO:0007015, negative regulation of ruffle assembly, cellular response to interferon-gamma, positive regulation of stress fiber assembly, protein homotetramerization, actin nucleation, positive regulation of actin filament polymerization, negative regulation of epithelial cell migration, animal organ morphogenesis, actin polymerization or depolymerization, actin polymerization or depolymerization, axon guidance, nervous system development, cell surface receptor signaling pathway, actin filament organization, 318 287 784 1436 466 1595 1171 398 1107 ENSG00000196406 chrX 141697411 141698739 - SPANXD protein_coding Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. Polymorphisms in this gene may be associated with prostate cancer susceptibility. [provided by RefSeq, Apr 2014]. 64648 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000196407 chr1 151847263 151853697 - THEM5 protein_coding 284486 GO:0005759, GO:0005759, GO:0005759, mitochondrial matrix, mitochondrial matrix, mitochondrial matrix, GO:0102991, GO:0016290, GO:0016290, GO:0005515, myristoyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, palmitoyl-CoA hydrolase activity, protein binding, GO:0035965, GO:0035965, GO:0035336, GO:0035336, GO:0006637, GO:0006631, cardiolipin acyl-chain remodeling, cardiolipin acyl-chain remodeling, long-chain fatty-acyl-CoA metabolic process, long-chain fatty-acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, 7 2 11 13 1 10 14 2 10 ENSG00000196408 chr16 1978917 1984192 - NOXO1 protein_coding This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]. 124056 GO:0043020, GO:0005886, GO:0005737, NADPH oxidase complex, plasma membrane, cytoplasm, GO:0032266, GO:0019899, GO:0016176, GO:0016176, GO:0005543, GO:0005515, phosphatidylinositol-3-phosphate binding, enzyme binding, superoxide-generating NADPH oxidase activator activity, superoxide-generating NADPH oxidase activator activity, phospholipid binding, protein binding, GO:0060263, GO:0043085, GO:0022617, GO:0010310, GO:0006801, regulation of respiratory burst, positive regulation of catalytic activity, extracellular matrix disassembly, regulation of hydrogen peroxide metabolic process, superoxide metabolic process, 1 4 2 6 3 1 4 3 8 ENSG00000196411 chr7 100802565 100827521 - EPHB4 protein_coding Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]. 2050 GO:0070062, GO:0043235, GO:0043005, GO:0005887, GO:0005887, GO:0005886, GO:0005829, GO:0005576, extracellular exosome, receptor complex, neuron projection, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytosol, extracellular region, GO:0005524, GO:0005515, GO:0005005, GO:0005003, GO:0004714, GO:0004714, ATP binding, protein binding, transmembrane-ephrin receptor activity, ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, GO:0048013, GO:0048013, GO:0046777, GO:0033674, GO:0018108, GO:0007411, GO:0007275, GO:0007169, GO:0007155, GO:0003007, GO:0002042, GO:0001525, ephrin receptor signaling pathway, ephrin receptor signaling pathway, protein autophosphorylation, positive regulation of kinase activity, peptidyl-tyrosine phosphorylation, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, heart morphogenesis, cell migration involved in sprouting angiogenesis, angiogenesis, 268 442 476 120 321 331 139 347 303 ENSG00000196415 chr19 840960 848175 + PRTN3 protein_coding 5657 GO:0070062, GO:0062023, GO:0044853, GO:0035578, GO:0035578, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, plasma membrane raft, azurophil granule lumen, azurophil granule lumen, plasma membrane, plasma membrane, plasma membrane, cytosol, cytosol, extracellular space, extracellular space, extracellular region, GO:0019899, GO:0008236, GO:0005515, GO:0005102, GO:0004252, GO:0004252, GO:0004252, GO:0004252, enzyme binding, serine-type peptidase activity, protein binding, signaling receptor binding, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0097029, GO:0072672, GO:0050765, GO:0045217, GO:0043547, GO:0043312, GO:0030574, GO:0019730, GO:0019221, GO:0008284, GO:0007596, GO:0006909, GO:0006509, GO:0006508, GO:0006508, GO:0006508, mature conventional dendritic cell differentiation, neutrophil extravasation, negative regulation of phagocytosis, cell-cell junction maintenance, positive regulation of GTPase activity, neutrophil degranulation, collagen catabolic process, antimicrobial humoral response, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, blood coagulation, phagocytosis, membrane protein ectodomain proteolysis, proteolysis, proteolysis, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000196417 chr19 53389793 53430413 + ZNF765 protein_coding 91661 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 42 37 35 39 35 43 59 19 53 ENSG00000196418 chr1 247121975 247172016 - ZNF124 protein_coding This gene encodes a protein with an amino-terminal KRAB-A box and multiple repeated Kruppel-type (C2H2) zinc finger motifs at its carboxy terminus. The encoded protein may function as a transcription factor. Expression of this gene is increased after vascular endothelial growth factor (VEGF) stimulation in human leukemia cell lines and results in inhibition of apoptotic cell death induced by irradiation or exposure to etoposide. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2014]. 7678 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003677, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 14 7 17 24 10 33 18 8 14 ENSG00000196419 chr22 41621119 41664048 + XRCC6 protein_coding The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]. 2547 GO:1904813, GO:0070419, GO:0043564, GO:0043564, GO:0034774, GO:0032993, GO:0032991, GO:0016020, GO:0005829, GO:0005730, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005576, GO:0000783, GO:0000781, GO:0000781, ficolin-1-rich granule lumen, nonhomologous end joining complex, Ku70:Ku80 complex, Ku70:Ku80 complex, secretory granule lumen, protein-DNA complex, protein-containing complex, membrane, cytosol, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, extracellular region, nuclear telomere cap complex, chromosome, telomeric region, chromosome, telomeric region, GO:0051575, GO:0045027, GO:0044877, GO:0042162, GO:0030332, GO:0008094, GO:0008022, GO:0005524, GO:0005515, GO:0003723, GO:0003691, GO:0003690, GO:0003684, GO:0003678, GO:0003677, GO:0000976, 5'-deoxyribose-5-phosphate lyase activity, DNA end binding, protein-containing complex binding, telomeric DNA binding, cyclin binding, DNA-dependent ATPase activity, protein C-terminus binding, ATP binding, protein binding, RNA binding, double-stranded telomeric DNA binding, double-stranded DNA binding, damaged DNA binding, DNA helicase activity, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0097680, GO:0075713, GO:0071481, GO:0071480, GO:0071480, GO:0071475, GO:0048660, GO:0045944, GO:0045893, GO:0045893, GO:0045892, GO:0045860, GO:0045621, GO:0045087, GO:0043312, GO:0032508, GO:0032481, GO:0007420, GO:0006310, GO:0006303, GO:0006303, GO:0006303, GO:0006266, GO:0002218, GO:0000723, GO:0000723, double-strand break repair via classical nonhomologous end joining, establishment of integrated proviral latency, cellular response to X-ray, cellular response to gamma radiation, cellular response to gamma radiation, cellular hyperosmotic salinity response, regulation of smooth muscle cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of protein kinase activity, positive regulation of lymphocyte differentiation, innate immune response, neutrophil degranulation, DNA duplex unwinding, positive regulation of type I interferon production, brain development, DNA recombination, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, double-strand break repair via nonhomologous end joining, DNA ligation, activation of innate immune response, telomere maintenance, telomere maintenance, 1073 1043 1268 631 514 715 616 520 558 ENSG00000196420 chr1 153537147 153541765 - S100A5 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. [provided by RefSeq, Jul 2008]. 6276 GO:0043025, GO:0005634, GO:0005634, neuronal cell body, nucleus, nucleus, GO:0048306, GO:0042803, GO:0008270, GO:0005515, GO:0005509, GO:0005509, GO:0005507, calcium-dependent protein binding, protein homodimerization activity, zinc ion binding, protein binding, calcium ion binding, calcium ion binding, copper ion binding, 4 3 4 0 0 2 0 6 0 ENSG00000196421 chr20 64034344 64039962 + C20orf204 protein_coding 284739 4 4 5 13 10 2 7 7 9 ENSG00000196422 chr9 135479079 135488893 + PPP1R26 protein_coding 9858 GO:0005730, nucleolus, GO:0005515, GO:0004864, protein binding, protein phosphatase inhibitor activity, GO:0032515, GO:0010923, GO:0010923, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 5 7 3 3 4 12 5 2 0 ENSG00000196427 chr1 108223341 108244081 - NBPF4 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013]. 148545 GO:0005737, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000196428 chr3 150408335 150466431 + TSC22D2 protein_coding 9819 GO:0003700, DNA-binding transcription factor activity, GO:0006970, GO:0006355, response to osmotic stress, regulation of transcription, DNA-templated, 1384 1279 1873 1323 1514 2422 1531 976 2028 ENSG00000196431 chr22 26621964 26630672 + CRYBA4 protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]. 1413 GO:0005575, cellular_component, GO:0042802, GO:0005515, GO:0005212, GO:0003674, identical protein binding, protein binding, structural constituent of eye lens, molecular_function, GO:0043010, GO:0007601, GO:0007601, GO:0007601, GO:0002088, camera-type eye development, visual perception, visual perception, visual perception, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000196433 chrX 1615001 1643081 + ASMT protein_coding This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010]. 438 GO:0005829, cytosol, GO:0042803, GO:0042802, GO:0017096, GO:0017096, GO:0008757, GO:0008172, GO:0008171, protein homodimerization activity, identical protein binding, acetylserotonin O-methyltransferase activity, acetylserotonin O-methyltransferase activity, S-adenosylmethionine-dependent methyltransferase activity, S-methyltransferase activity, O-methyltransferase activity, GO:0046219, GO:0032259, GO:0030187, GO:0030187, GO:0030187, GO:0019438, GO:0006412, indolalkylamine biosynthetic process, methylation, melatonin biosynthetic process, melatonin biosynthetic process, melatonin biosynthetic process, aromatic compound biosynthetic process, translation, 0 0 0 0 0 0 0 0 0 ENSG00000196436 chr16 74377878 74392080 + NPIPB15 protein_coding 440348 GO:0005654, GO:0005654, GO:0005576, nucleoplasm, nucleoplasm, extracellular region, 14 21 21 25 33 27 24 22 10 ENSG00000196437 chr19 37411155 37469275 - ZNF569 protein_coding 148266 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 13 9 13 22 23 13 15 4 17 ENSG00000196440 chrX 101418287 101533459 + ARMCX4 protein_coding The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]. 100131755 GO:0016021, integral component of membrane, 34 33 41 57 43 56 57 36 20 ENSG00000196449 chr1 37802944 37808185 - YRDC protein_coding 79693 GO:0016020, GO:0005739, GO:0005737, membrane, mitochondrion, cytoplasm, GO:0016779, GO:0005515, GO:0003725, GO:0000049, nucleotidyltransferase activity, protein binding, double-stranded RNA binding, tRNA binding, GO:0051051, GO:0006450, negative regulation of transport, regulation of translational fidelity, 82 76 125 150 166 169 121 78 132 ENSG00000196453 chr7 149431363 149461123 - ZNF777 protein_coding 27153 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0046872, GO:0005515, GO:0003674, GO:0000981, GO:0000978, metal ion binding, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 15 16 17 31 9 24 27 12 36 ENSG00000196455 chr3 130678935 130746829 - PIK3R4 protein_coding 30849 GO:0071561, GO:0043231, GO:0035032, GO:0034272, GO:0034271, GO:0030670, GO:0016020, GO:0015630, GO:0005930, GO:0005829, GO:0005776, GO:0005770, GO:0005770, nucleus-vacuole junction, intracellular membrane-bounded organelle, phosphatidylinositol 3-kinase complex, class III, phosphatidylinositol 3-kinase complex, class III, type II, phosphatidylinositol 3-kinase complex, class III, type I, phagocytic vesicle membrane, membrane, microtubule cytoskeleton, axoneme, cytosol, autophagosome, late endosome, late endosome, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0045324, GO:0043552, GO:0042149, GO:0034162, GO:0032801, GO:0032465, GO:0030242, GO:0016236, GO:0016236, GO:0006661, GO:0006623, GO:0006468, GO:0006468, late endosome to vacuole transport, positive regulation of phosphatidylinositol 3-kinase activity, cellular response to glucose starvation, toll-like receptor 9 signaling pathway, receptor catabolic process, regulation of cytokinesis, autophagy of peroxisome, macroautophagy, macroautophagy, phosphatidylinositol biosynthetic process, protein targeting to vacuole, protein phosphorylation, protein phosphorylation, 405 485 587 177 211 247 170 206 238 ENSG00000196456 chr7 150379335 150398631 + ZNF775 protein_coding 285971 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 6 10 18 8 8 2 2 9 ENSG00000196458 chr12 132918308 132956306 - ZNF605 protein_coding 100289635 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 46 70 80 78 143 121 108 101 110 ENSG00000196459 chrX 13712244 13734635 - TRAPPC2 protein_coding The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]. 6399 GO:0048471, GO:0043231, GO:0030008, GO:0030008, GO:0005829, GO:0005793, GO:0005783, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000139, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, TRAPP complex, TRAPP complex, cytosol, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, nucleus, Golgi membrane, GO:0044325, GO:0008134, GO:0005515, ion channel binding, transcription factor binding, protein binding, GO:0048208, GO:0006888, GO:0006888, GO:0006355, GO:0001501, COPII vesicle coating, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, regulation of transcription, DNA-templated, skeletal system development, 70 82 98 73 103 86 108 56 69 ENSG00000196460 chr2 101397361 101474703 - RFX8 protein_coding 731220 GO:0000785, GO:0000785, chromatin, chromatin, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 0 0 3 2 0 0 0 0 ENSG00000196465 chr12 56152256 56159647 + MYL6B protein_coding Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. 140465 GO:0070062, GO:0016461, GO:0016459, GO:0005859, GO:0005829, extracellular exosome, unconventional myosin complex, myosin complex, muscle myosin complex, cytosol, GO:0008307, GO:0005515, GO:0005509, GO:0003774, structural constituent of muscle, protein binding, calcium ion binding, motor activity, GO:0030049, GO:0007519, GO:0006936, muscle filament sliding, skeletal muscle tissue development, muscle contraction, 3 5 10 12 6 7 9 16 8 ENSG00000196466 chr19 12390016 12401271 - ZNF799 protein_coding 90576 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 10 5 15 19 7 23 16 12 14 ENSG00000196468 chrX 77447405 77457278 + FGF16 protein_coding This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and is required for proper heart development. Mutation in this gene was also observed in individuals with metacarpal 4-5 fusion. [provided by RefSeq, Mar 2014]. 8823 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005104, growth factor activity, protein binding, fibroblast growth factor receptor binding, GO:2000546, GO:2000546, GO:1903670, GO:0070349, GO:0051897, GO:0043405, GO:0030334, GO:0030154, GO:0010628, GO:0009887, GO:0009266, GO:0008543, GO:0008543, GO:0008284, GO:0007267, GO:0007165, GO:0001936, GO:0001934, GO:0000165, positive regulation of endothelial cell chemotaxis to fibroblast growth factor, positive regulation of endothelial cell chemotaxis to fibroblast growth factor, regulation of sprouting angiogenesis, positive regulation of brown fat cell proliferation, positive regulation of protein kinase B signaling, regulation of MAP kinase activity, regulation of cell migration, cell differentiation, positive regulation of gene expression, animal organ morphogenesis, response to temperature stimulus, fibroblast growth factor receptor signaling pathway, fibroblast growth factor receptor signaling pathway, positive regulation of cell population proliferation, cell-cell signaling, signal transduction, regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000196470 chr16 48356364 48448402 - SIAH1 protein_coding This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]. 6477 GO:0030877, GO:0005886, GO:0005829, GO:0005769, GO:0005737, GO:0005634, beta-catenin destruction complex, plasma membrane, cytosol, early endosome, cytoplasm, nucleus, GO:0061630, GO:0061630, GO:0042802, GO:0031624, GO:0008270, GO:0008270, GO:0008022, GO:0005515, GO:0004842, GO:0004842, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, identical protein binding, ubiquitin conjugating enzyme binding, zinc ion binding, zinc ion binding, protein C-terminus binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:2001244, GO:1902842, GO:0051402, GO:0044267, GO:0043161, GO:0043161, GO:0043065, GO:0031648, GO:0030163, GO:0009653, GO:0007411, GO:0007399, GO:0007283, GO:0007049, GO:0006915, GO:0006511, GO:0006511, GO:0000209, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of netrin-activated signaling pathway, neuron apoptotic process, cellular protein metabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of apoptotic process, protein destabilization, protein catabolic process, anatomical structure morphogenesis, axon guidance, nervous system development, spermatogenesis, cell cycle, apoptotic process, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 375 393 529 502 680 806 564 509 581 ENSG00000196472 chr4 69181660 69182372 + AC111000.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196475 chr4 79406352 79408293 - GK2 protein_coding 2712 GO:0070062, GO:0005741, GO:0005739, extracellular exosome, mitochondrial outer membrane, mitochondrion, GO:0016773, GO:0005524, GO:0004370, GO:0004370, phosphotransferase activity, alcohol group as acceptor, ATP binding, glycerol kinase activity, glycerol kinase activity, GO:0046167, GO:0019563, GO:0016310, GO:0006641, GO:0006071, glycerol-3-phosphate biosynthetic process, glycerol catabolic process, phosphorylation, triglyceride metabolic process, glycerol metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000196476 chr20 270863 290778 - C20orf96 protein_coding 140680 0 2 4 7 0 1 6 1 1 ENSG00000196482 chr1 216503246 217137755 - ESRRG protein_coding This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]. 2104 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0050682, GO:0008270, GO:0005515, GO:0005496, GO:0004879, GO:0003707, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, AF-2 domain binding, zinc ion binding, protein binding, steroid binding, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0120162, GO:0048384, GO:0045944, GO:0045893, GO:0043401, GO:0006367, GO:0006357, GO:0006355, positive regulation of cold-induced thermogenesis, retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, steroid hormone mediated signaling pathway, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000196497 chr14 24180219 24188964 - IPO4 protein_coding 79711 GO:0032991, GO:0016020, GO:0005737, GO:0005634, GO:0000785, protein-containing complex, membrane, cytoplasm, nucleus, chromatin, GO:0061608, GO:0031267, GO:0008139, GO:0005515, nuclear import signal receptor activity, small GTPase binding, nuclear localization sequence binding, protein binding, GO:0006606, GO:0006606, GO:0006336, GO:0006335, protein import into nucleus, protein import into nucleus, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, 6 12 16 28 25 42 50 18 16 ENSG00000196498 chr12 124324415 124567589 - NCOR2 protein_coding This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]. 9612 GO:0017053, GO:0017053, GO:0016604, GO:0016363, GO:0016020, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, GO:0000118, transcription repressor complex, transcription repressor complex, nuclear body, nuclear matrix, membrane, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, chromatin, histone deacetylase complex, GO:0047485, GO:0046965, GO:0044877, GO:0042826, GO:0042826, GO:0035259, GO:0035257, GO:0005515, GO:0005112, GO:0003714, GO:0003714, GO:0003714, protein N-terminus binding, retinoid X receptor binding, protein-containing complex binding, histone deacetylase binding, histone deacetylase binding, glucocorticoid receptor binding, nuclear hormone receptor binding, protein binding, Notch binding, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, GO:1903799, GO:0060766, GO:0045892, GO:0044849, GO:0032355, GO:0019216, GO:0010565, GO:0010243, GO:0007595, GO:0000122, GO:0000122, GO:0000122, negative regulation of production of miRNAs involved in gene silencing by miRNA, negative regulation of androgen receptor signaling pathway, negative regulation of transcription, DNA-templated, estrous cycle, response to estradiol, regulation of lipid metabolic process, regulation of cellular ketone metabolic process, response to organonitrogen compound, lactation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 969 1148 1228 510 725 619 557 585 576 ENSG00000196502 chr16 28605196 28623625 - SULT1A1 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 6817 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0050656, GO:0050294, GO:0047894, GO:0008146, GO:0008146, GO:0005515, GO:0004062, GO:0004062, 3'-phosphoadenosine 5'-phosphosulfate binding, steroid sulfotransferase activity, flavonol 3-sulfotransferase activity, sulfotransferase activity, sulfotransferase activity, protein binding, aryl sulfotransferase activity, aryl sulfotransferase activity, GO:0051923, GO:0051923, GO:0050427, GO:0050427, GO:0009812, GO:0009308, GO:0008210, GO:0006805, GO:0006584, GO:0006068, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, flavonoid metabolic process, amine metabolic process, estrogen metabolic process, xenobiotic metabolic process, catecholamine metabolic process, ethanol catabolic process, 985 1100 981 373 917 535 450 785 502 ENSG00000196503 chr4 56505209 56525481 + ARL9 protein_coding ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]. 132946 GO:0005525, GTP binding, 0 0 0 0 1 0 0 0 0 ENSG00000196504 chr2 152651593 152717997 - PRPF40A protein_coding 55660 GO:0071004, GO:0016607, GO:0016363, GO:0016020, GO:0005829, GO:0005685, GO:0005654, U2-type prespliceosome, nuclear speck, nuclear matrix, membrane, cytosol, U1 snRNP, nucleoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0051301, GO:0045292, GO:0032465, GO:0016477, GO:0008360, GO:0007049, GO:0007010, GO:0000398, GO:0000398, cell division, mRNA cis splicing, via spliceosome, regulation of cytokinesis, cell migration, regulation of cell shape, cell cycle, cytoskeleton organization, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 1229 1028 1155 823 941 880 879 747 681 ENSG00000196505 chr1 117863485 117929630 - GDAP2 protein_coding 54834 GO:0005765, lysosomal membrane, GO:0005515, protein binding, GO:0032526, response to retinoic acid, 451 500 564 283 514 413 310 341 371 ENSG00000196507 chrX 103607451 103629690 + TCEAL3 protein_coding This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]. 85012 GO:0005634, nucleus, GO:0050699, WW domain binding, 15 28 23 50 31 46 16 23 19 ENSG00000196510 chr12 110372900 110403730 - ANAPC7 protein_coding This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. 51434 GO:0005829, GO:0005737, GO:0005680, GO:0005680, GO:0005654, GO:0005634, cytosol, cytoplasm, anaphase-promoting complex, anaphase-promoting complex, nucleoplasm, nucleus, GO:0019903, protein phosphatase binding, GO:1901990, GO:0070979, GO:0051301, GO:0045842, GO:0031145, GO:0031145, GO:0016567, GO:0007091, GO:0006511, regulation of mitotic cell cycle phase transition, protein K11-linked ubiquitination, cell division, positive regulation of mitotic metaphase/anaphase transition, anaphase-promoting complex-dependent catabolic process, anaphase-promoting complex-dependent catabolic process, protein ubiquitination, metaphase/anaphase transition of mitotic cell cycle, ubiquitin-dependent protein catabolic process, 99 119 139 136 145 175 127 112 100 ENSG00000196511 chr7 144451941 144836395 - TPK1 protein_coding The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]. 27010 GO:0005829, cytosol, GO:0042802, GO:0030975, GO:0016301, GO:0005524, GO:0005515, GO:0004788, identical protein binding, thiamine binding, kinase activity, ATP binding, protein binding, thiamine diphosphokinase activity, GO:0042723, GO:0016310, GO:0009229, GO:0009229, GO:0006772, thiamine-containing compound metabolic process, phosphorylation, thiamine diphosphate biosynthetic process, thiamine diphosphate biosynthetic process, thiamine metabolic process, 147 120 167 107 155 133 120 125 111 ENSG00000196517 chr1 43991500 44031467 - SLC6A9 protein_coding The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]. 6536 GO:0099056, GO:0098688, GO:0098686, GO:0031045, GO:0016328, GO:0016324, GO:0016323, GO:0016020, GO:0014069, GO:0009925, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005768, integral component of presynaptic membrane, parallel fiber to Purkinje cell synapse, hippocampal mossy fiber to CA3 synapse, dense core granule, lateral plasma membrane, apical plasma membrane, basolateral plasma membrane, membrane, postsynaptic density, basal plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endosome, GO:0015375, GO:0015187, GO:0015187, glycine:sodium symporter activity, glycine transmembrane transporter activity, glycine transmembrane transporter activity, GO:1904782, GO:1904440, GO:1904256, GO:1903804, GO:1903804, GO:0150104, GO:0070455, GO:0061537, GO:0046985, GO:0035725, GO:0015816, GO:0001504, negative regulation of NMDA glutamate receptor activity, positive regulation of iron ion import across plasma membrane, positive regulation of iron ion transmembrane transporter activity, glycine import across plasma membrane, glycine import across plasma membrane, transport across blood-brain barrier, positive regulation of heme biosynthetic process, glycine secretion, neurotransmission, positive regulation of hemoglobin biosynthetic process, sodium ion transmembrane transport, glycine transport, neurotransmitter uptake, 1 8 2 3 10 3 4 1 5 ENSG00000196526 chr4 7758714 7939926 - AFAP1 protein_coding The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. 60312 GO:0015629, GO:0005925, GO:0005925, GO:0005829, GO:0005829, actin cytoskeleton, focal adhesion, focal adhesion, cytosol, cytosol, GO:0042169, GO:0017124, GO:0003779, SH2 domain binding, SH3 domain binding, actin binding, GO:0051493, GO:0009966, regulation of cytoskeleton organization, regulation of signal transduction, 120 122 189 80 94 117 131 90 85 ENSG00000196531 chr12 56712428 56731628 - NACA protein_coding This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]. 4666 GO:0005854, GO:0005737, GO:0005634, nascent polypeptide-associated complex, cytoplasm, nucleus, GO:0051082, GO:0003677, unfolded protein binding, DNA binding, GO:0006612, protein targeting to membrane, 931 931 1163 1190 876 1416 928 808 906 ENSG00000196534 chr12 55113077 55118632 + OR9K1P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196535 chr17 29071124 29180412 - MYO18A protein_coding The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]. 399687 GO:0150051, GO:0042641, GO:0016459, GO:0016020, GO:0009986, GO:0005802, GO:0005793, GO:0000139, postsynaptic Golgi apparatus, actomyosin, myosin complex, membrane, cell surface, trans-Golgi network, endoplasmic reticulum-Golgi intermediate compartment, Golgi membrane, GO:0051015, GO:0043531, GO:0016887, GO:0005524, GO:0005515, GO:0003723, GO:0003677, actin filament binding, ADP binding, ATPase activity, ATP binding, protein binding, RNA binding, DNA binding, GO:1903028, GO:0090164, GO:0090161, GO:0050714, GO:0048194, GO:0043066, GO:0043030, GO:0031032, GO:0016477, GO:0007030, GO:0006259, positive regulation of opsonization, asymmetric Golgi ribbon formation, Golgi ribbon formation, positive regulation of protein secretion, Golgi vesicle budding, negative regulation of apoptotic process, regulation of macrophage activation, actomyosin structure organization, cell migration, Golgi organization, DNA metabolic process, 314 434 559 301 350 517 374 329 410 ENSG00000196539 chr1 248473351 248474307 + OR2T3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 343173 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196542 chr3 161344792 161372880 - SPTSSB protein_coding Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]. 165679 GO:0017059, GO:0017059, GO:0016021, GO:0005789, serine C-palmitoyltransferase complex, serine C-palmitoyltransferase complex, integral component of membrane, endoplasmic reticulum membrane, GO:0005515, GO:0004758, GO:0004758, protein binding, serine C-palmitoyltransferase activity, serine C-palmitoyltransferase activity, GO:1904220, GO:1904220, GO:0046513, GO:0046513, GO:0030148, GO:0030148, GO:0007029, GO:0007029, regulation of serine C-palmitoyltransferase activity, regulation of serine C-palmitoyltransferase activity, ceramide biosynthetic process, ceramide biosynthetic process, sphingolipid biosynthetic process, sphingolipid biosynthetic process, endoplasmic reticulum organization, endoplasmic reticulum organization, 0 0 0 1 0 0 1 3 0 ENSG00000196544 chr17 8188333 8190907 - BORCS6 protein_coding 54785 GO:0099078, GO:0099078, GO:0005765, BORC complex, BORC complex, lysosomal membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0032418, GO:0032418, lysosome localization, lysosome localization, 90 131 123 81 167 100 84 125 78 ENSG00000196547 chr15 90902218 90922584 + MAN2A2 protein_coding 4122 GO:0016021, GO:0000139, GO:0000139, integral component of membrane, Golgi membrane, Golgi membrane, GO:0046872, GO:0030246, GO:0016799, GO:0004572, GO:0004559, metal ion binding, carbohydrate binding, hydrolase activity, hydrolyzing N-glycosyl compounds, mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity, alpha-mannosidase activity, GO:0006517, GO:0006491, GO:0006486, GO:0006013, protein deglycosylation, N-glycan processing, protein glycosylation, mannose metabolic process, 3594 3584 5284 2620 3258 3963 2901 2902 3357 ENSG00000196549 chr3 155024124 155183729 + MME protein_coding The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]. 4311 GO:0098793, GO:0070062, GO:0045202, GO:0045121, GO:0044306, GO:0043025, GO:0043025, GO:0031410, GO:0030667, GO:0030425, GO:0030424, GO:0030424, GO:0016021, GO:0009986, GO:0008021, GO:0005925, GO:0005903, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005802, GO:0005769, GO:0005737, presynapse, extracellular exosome, synapse, membrane raft, neuron projection terminus, neuronal cell body, neuronal cell body, cytoplasmic vesicle, secretory granule membrane, dendrite, axon, axon, integral component of membrane, cell surface, synaptic vesicle, focal adhesion, brush border, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, early endosome, cytoplasm, GO:1901612, GO:0070012, GO:0042803, GO:0042277, GO:0008270, GO:0008238, GO:0008237, GO:0005515, GO:0004222, GO:0004222, GO:0004222, GO:0004175, GO:0004175, GO:0004175, GO:0001786, cardiolipin binding, oligopeptidase activity, protein homodimerization activity, peptide binding, zinc ion binding, exopeptidase activity, metallopeptidase activity, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, endopeptidase activity, endopeptidase activity, phosphatidylserine binding, GO:1900273, GO:0150094, GO:0150094, GO:0150094, GO:0097242, GO:0097242, GO:0097242, GO:0097242, GO:0090399, GO:0071493, GO:0071492, GO:0071345, GO:0061837, GO:0050769, GO:0050435, GO:0046449, GO:0043312, GO:0030324, GO:0019233, GO:0016485, GO:0007611, GO:0007568, GO:0006518, GO:0006508, GO:0006508, GO:0006508, GO:0002003, GO:0001890, GO:0001822, positive regulation of long-term synaptic potentiation, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance by cellular catabolic process, amyloid-beta clearance, amyloid-beta clearance, amyloid-beta clearance, amyloid-beta clearance, replicative senescence, cellular response to UV-B, cellular response to UV-A, cellular response to cytokine stimulus, neuropeptide processing, positive regulation of neurogenesis, amyloid-beta metabolic process, creatinine metabolic process, neutrophil degranulation, lung development, sensory perception of pain, protein processing, learning or memory, aging, peptide metabolic process, proteolysis, proteolysis, proteolysis, angiotensin maturation, placenta development, kidney development, 8856 11227 15321 1920 5499 4017 2868 4821 3693 ENSG00000196550 chr1 206186179 206204414 - FAM72A protein_coding 729533 GO:0043231, GO:0016020, GO:0005829, GO:0005829, GO:0005739, intracellular membrane-bounded organelle, membrane, cytosol, cytosol, mitochondrion, GO:0005515, protein binding, 1 13 11 3 7 8 2 3 8 ENSG00000196553 chr14 66411704 66498677 + CCDC196 protein_coding 440184 0 0 0 2 0 0 0 0 0 ENSG00000196557 chr16 1153121 1221772 + CACNA1H protein_coding This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]. 8912 GO:0043005, GO:0016021, GO:0005891, GO:0005887, GO:0001518, neuron projection, integral component of membrane, voltage-gated calcium channel complex, integral component of plasma membrane, voltage-gated sodium channel complex, GO:0097110, GO:0046872, GO:0008332, GO:0008332, GO:0005515, GO:0005248, GO:0005244, scaffold protein binding, metal ion binding, low voltage-gated calcium channel activity, low voltage-gated calcium channel activity, protein binding, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:2000344, GO:0098662, GO:0086010, GO:0070588, GO:0070509, GO:0070509, GO:0045956, GO:0042391, GO:0035865, GO:0035725, GO:0034765, GO:0034651, GO:0032870, GO:0032342, GO:0019228, GO:0008016, GO:0007520, GO:0007517, GO:0006936, positive regulation of acrosome reaction, inorganic cation transmembrane transport, membrane depolarization during action potential, calcium ion transmembrane transport, calcium ion import, calcium ion import, positive regulation of calcium ion-dependent exocytosis, regulation of membrane potential, cellular response to potassium ion, sodium ion transmembrane transport, regulation of ion transmembrane transport, cortisol biosynthetic process, cellular response to hormone stimulus, aldosterone biosynthetic process, neuronal action potential, regulation of heart contraction, myoblast fusion, muscle organ development, muscle contraction, 0 2 4 6 0 9 3 0 4 ENSG00000196562 chr20 47656348 47786616 - SULF2 protein_coding Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]. 55959 GO:0009986, GO:0009986, GO:0005886, GO:0005886, GO:0005795, GO:0005783, GO:0005783, GO:0005615, cell surface, cell surface, plasma membrane, plasma membrane, Golgi stack, endoplasmic reticulum, endoplasmic reticulum, extracellular space, GO:0008449, GO:0008449, GO:0008449, GO:0005539, GO:0005509, GO:0004065, GO:0004065, N-acetylglucosamine-6-sulfatase activity, N-acetylglucosamine-6-sulfatase activity, N-acetylglucosamine-6-sulfatase activity, glycosaminoglycan binding, calcium ion binding, arylsulfatase activity, arylsulfatase activity, GO:2000345, GO:0097421, GO:0090263, GO:0060384, GO:0060348, GO:0051216, GO:0048706, GO:0040037, GO:0040037, GO:0035860, GO:0032836, GO:0032836, GO:0030201, GO:0030201, GO:0030201, GO:0030177, GO:0030177, GO:0014846, GO:0010575, GO:0010575, GO:0009611, GO:0003094, GO:0002063, GO:0001822, regulation of hepatocyte proliferation, liver regeneration, positive regulation of canonical Wnt signaling pathway, innervation, bone development, cartilage development, embryonic skeletal system development, negative regulation of fibroblast growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, glial cell-derived neurotrophic factor receptor signaling pathway, glomerular basement membrane development, glomerular basement membrane development, heparan sulfate proteoglycan metabolic process, heparan sulfate proteoglycan metabolic process, heparan sulfate proteoglycan metabolic process, positive regulation of Wnt signaling pathway, positive regulation of Wnt signaling pathway, esophagus smooth muscle contraction, positive regulation of vascular endothelial growth factor production, positive regulation of vascular endothelial growth factor production, response to wounding, glomerular filtration, chondrocyte development, kidney development, 3493 4769 5447 1587 3609 3044 2158 3051 2791 ENSG00000196564 chrX 18838709 18839452 - AL096700.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196565 chr11 5253190 5505605 - HBG2 protein_coding The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]. 3048 GO:0072562, GO:0031838, GO:0005833, GO:0005829, blood microparticle, haptoglobin-hemoglobin complex, hemoglobin complex, cytosol, GO:0046872, GO:0043177, GO:0031721, GO:0031720, GO:0020037, GO:0019825, GO:0005515, GO:0005344, GO:0004601, metal ion binding, organic acid binding, hemoglobin alpha binding, haptoglobin binding, heme binding, oxygen binding, protein binding, oxygen carrier activity, peroxidase activity, GO:0098869, GO:0042744, GO:0015671, GO:0007596, cellular oxidant detoxification, hydrogen peroxide catabolic process, oxygen transport, blood coagulation, 0 0 0 1 0 0 0 0 0 ENSG00000196566 chr10 87610163 87660003 - AL138767.1 antisense 1 2 0 0 4 0 0 1 3 ENSG00000196569 chr6 128883141 129516569 + LAMA2 protein_coding Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]. 3908 GO:0062023, GO:0043197, GO:0043083, GO:0042383, GO:0031594, GO:0005604, GO:0005604, GO:0005576, collagen-containing extracellular matrix, dendritic spine, synaptic cleft, sarcolemma, neuromuscular junction, basement membrane, basement membrane, extracellular region, GO:0005201, GO:0005201, GO:0005198, GO:0005102, extracellular matrix structural constituent, extracellular matrix structural constituent, structural molecule activity, signaling receptor binding, GO:0045995, GO:0035633, GO:0032224, GO:0030334, GO:0030198, GO:0030155, GO:0014037, GO:0009888, GO:0009887, GO:0007517, GO:0007411, GO:0007155, regulation of embryonic development, maintenance of blood-brain barrier, positive regulation of synaptic transmission, cholinergic, regulation of cell migration, extracellular matrix organization, regulation of cell adhesion, Schwann cell differentiation, tissue development, animal organ morphogenesis, muscle organ development, axon guidance, cell adhesion, 6 0 1 2 4 8 11 4 3 ENSG00000196570 chr5 177400107 177400636 - PFN3 protein_coding The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]. 345456 GO:0005856, GO:0005737, GO:0005634, cytoskeleton, cytoplasm, nucleus, GO:0008289, GO:0003779, lipid binding, actin binding, GO:0032233, GO:0030833, GO:0030036, positive regulation of actin filament bundle assembly, regulation of actin filament polymerization, actin cytoskeleton organization, 0 2 1 0 0 0 0 0 0 ENSG00000196576 chr22 50274979 50307627 - PLXNB2 protein_coding Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]. 23654 GO:0070062, GO:0009986, GO:0005887, GO:0005887, GO:0002116, extracellular exosome, cell surface, integral component of plasma membrane, integral component of plasma membrane, semaphorin receptor complex, GO:0017154, GO:0017154, GO:0005515, semaphorin receptor activity, semaphorin receptor activity, protein binding, GO:2001222, GO:1904861, GO:1902287, GO:0071526, GO:0050772, GO:0045727, GO:0043087, GO:0043087, GO:0030334, GO:0010976, GO:0008360, GO:0008360, GO:0007420, GO:0007405, GO:0007162, GO:0007156, GO:0001932, GO:0001843, regulation of neuron migration, excitatory synapse assembly, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway, positive regulation of axonogenesis, positive regulation of translation, regulation of GTPase activity, regulation of GTPase activity, regulation of cell migration, positive regulation of neuron projection development, regulation of cell shape, regulation of cell shape, brain development, neuroblast proliferation, negative regulation of cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, regulation of protein phosphorylation, neural tube closure, 26 40 48 48 75 103 54 64 85 ENSG00000196578 chr3 98087173 98088102 + OR5AC2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81050 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196581 chr1 4654732 4792534 + AJAP1 protein_coding 55966 GO:0044291, GO:0044291, GO:0044214, GO:0044214, GO:0016324, GO:0016323, GO:0009986, GO:0009898, GO:0009898, GO:0005912, GO:0005912, cell-cell contact zone, cell-cell contact zone, spanning component of plasma membrane, spanning component of plasma membrane, apical plasma membrane, basolateral plasma membrane, cell surface, cytoplasmic side of plasma membrane, cytoplasmic side of plasma membrane, adherens junction, adherens junction, GO:0044877, GO:0008013, GO:0008013, GO:0005515, protein-containing complex binding, beta-catenin binding, beta-catenin binding, protein binding, GO:0061045, GO:0030860, GO:0007155, GO:0001953, negative regulation of wound healing, regulation of polarized epithelial cell differentiation, cell adhesion, negative regulation of cell-matrix adhesion, 2 4 6 3 3 0 1 1 0 ENSG00000196584 chr7 152644779 152676165 - XRCC2 protein_coding This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq, Jul 2008]. 7516 GO:0043231, GO:0033063, GO:0033063, GO:0005813, GO:0005813, GO:0005737, GO:0005657, GO:0005657, GO:0005654, GO:0005654, intracellular membrane-bounded organelle, Rad51B-Rad51C-Rad51D-XRCC2 complex, Rad51B-Rad51C-Rad51D-XRCC2 complex, centrosome, centrosome, cytoplasm, replication fork, replication fork, nucleoplasm, nucleoplasm, GO:0008094, GO:0005524, GO:0005515, GO:0000400, GO:0000400, DNA-dependent ATPase activity, ATP binding, protein binding, four-way junction DNA binding, four-way junction DNA binding, GO:2000269, GO:0051321, GO:0050769, GO:0043524, GO:0042148, GO:0042148, GO:0035264, GO:0010332, GO:0010165, GO:0007098, GO:0006281, GO:0001756, GO:0001701, GO:0000724, GO:0000724, GO:0000278, regulation of fibroblast apoptotic process, meiotic cell cycle, positive regulation of neurogenesis, negative regulation of neuron apoptotic process, strand invasion, strand invasion, multicellular organism growth, response to gamma radiation, response to X-ray, centrosome cycle, DNA repair, somitogenesis, in utero embryonic development, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, mitotic cell cycle, 0 0 7 7 0 1 4 2 14 ENSG00000196586 chr6 75749192 75919537 + MYO6 protein_coding This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. 4646 GO:0070062, GO:0048471, GO:0048471, GO:0045334, GO:0045177, GO:0032587, GO:0031982, GO:0031965, GO:0031941, GO:0031410, GO:0030665, GO:0030175, GO:0030139, GO:0030139, GO:0016591, GO:0016461, GO:0016020, GO:0015629, GO:0005938, GO:0005905, GO:0005902, GO:0005886, GO:0005886, GO:0005884, GO:0005829, GO:0005794, GO:0005765, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0001726, GO:0001726, extracellular exosome, perinuclear region of cytoplasm, perinuclear region of cytoplasm, clathrin-coated endocytic vesicle, apical part of cell, ruffle membrane, vesicle, nuclear membrane, filamentous actin, cytoplasmic vesicle, clathrin-coated vesicle membrane, filopodium, endocytic vesicle, endocytic vesicle, RNA polymerase II, holoenzyme, unconventional myosin complex, membrane, actin cytoskeleton, cell cortex, clathrin-coated pit, microvillus, plasma membrane, plasma membrane, actin filament, cytosol, Golgi apparatus, lysosomal membrane, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, ruffle, ruffle, GO:0060001, GO:0051015, GO:0051015, GO:0051015, GO:0043531, GO:0030898, GO:0005524, GO:0005516, GO:0005516, GO:0005515, GO:0003779, GO:0003774, GO:0000146, minus-end directed microfilament motor activity, actin filament binding, actin filament binding, actin filament binding, ADP binding, actin-dependent ATPase activity, ATP binding, calmodulin binding, calmodulin binding, protein binding, actin binding, motor activity, microfilament motor activity, GO:0051046, GO:0045944, GO:0042493, GO:0042491, GO:0042472, GO:0030330, GO:0030050, GO:0030048, GO:0030048, GO:0007605, GO:0007015, GO:0006897, GO:0006897, GO:0006897, GO:0006886, regulation of secretion, positive regulation of transcription by RNA polymerase II, response to drug, inner ear auditory receptor cell differentiation, inner ear morphogenesis, DNA damage response, signal transduction by p53 class mediator, vesicle transport along actin filament, actin filament-based movement, actin filament-based movement, sensory perception of sound, actin filament organization, endocytosis, endocytosis, endocytosis, intracellular protein transport, 2 5 13 0 3 9 2 6 2 ENSG00000196588 chr22 40410281 40636702 - MRTFA protein_coding The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 57591 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0043522, GO:0005515, GO:0003785, GO:0003779, GO:0003713, GO:0003713, leucine zipper domain binding, protein binding, actin monomer binding, actin binding, transcription coactivator activity, transcription coactivator activity, GO:0051145, GO:0051145, GO:0045944, GO:0045944, GO:0044319, GO:0030036, GO:0010735, smooth muscle cell differentiation, smooth muscle cell differentiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, wound healing, spreading of cells, actin cytoskeleton organization, positive regulation of transcription via serum response element binding, 1234 1394 1496 737 959 788 774 684 798 ENSG00000196589 chr19 7018969 7021450 - MBD3L2B protein_coding 729458 0 0 0 0 0 0 0 0 0 ENSG00000196591 chr6 113933028 114011308 - HDAC2 protein_coding This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes, and are responsible for the deacetylation of lysine residues at the N-terminal regions of core histones (H2A, H2B, H3 and H4). This protein forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus, it plays an important role in transcriptional regulation, cell cycle progression and developmental events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. 3066 GO:0035098, GO:0032991, GO:0032991, GO:0016581, GO:0016580, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000118, ESC/E(Z) complex, protein-containing complex, protein-containing complex, NuRD complex, Sin3 complex, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, histone deacetylase complex, GO:1990841, GO:0051059, GO:0043565, GO:0042826, GO:0033558, GO:0032041, GO:0031492, GO:0031072, GO:0019899, GO:0019213, GO:0008134, GO:0005515, GO:0004407, GO:0004407, GO:0003723, GO:0003682, GO:0001103, promoter-specific chromatin binding, NF-kappaB binding, sequence-specific DNA binding, histone deacetylase binding, protein deacetylase activity, NAD-dependent histone deacetylase activity (H3-K14 specific), nucleosomal DNA binding, heat shock protein binding, enzyme binding, deacetylase activity, transcription factor binding, protein binding, histone deacetylase activity, histone deacetylase activity, RNA binding, chromatin binding, RNA polymerase II repressing transcription factor binding, GO:2000757, GO:1903351, GO:1902437, GO:1901796, GO:0071560, GO:0071300, GO:0070933, GO:0070933, GO:0070932, GO:0070932, GO:0070829, GO:0070301, GO:0061198, GO:0061029, GO:0061000, GO:0060789, GO:0055093, GO:0048714, GO:0048149, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0045892, GO:0045862, GO:0045347, GO:0043433, GO:0043392, GO:0043066, GO:0043044, GO:0042733, GO:0042531, GO:0042493, GO:0042475, GO:0042220, GO:0035094, GO:0034605, GO:0032967, GO:0032922, GO:0032760, GO:0032732, GO:0032496, GO:0031000, GO:0016575, GO:0016358, GO:0010977, GO:0010718, GO:0009913, GO:0008284, GO:0007596, GO:0006338, GO:0003300, GO:0001975, GO:0000122, negative regulation of peptidyl-lysine acetylation, cellular response to dopamine, positive regulation of male mating behavior, regulation of signal transduction by p53 class mediator, cellular response to transforming growth factor beta stimulus, cellular response to retinoic acid, histone H4 deacetylation, histone H4 deacetylation, histone H3 deacetylation, histone H3 deacetylation, heterochromatin maintenance, cellular response to hydrogen peroxide, fungiform papilla formation, eyelid development in camera-type eye, negative regulation of dendritic spine development, hair follicle placode formation, response to hyperoxia, positive regulation of oligodendrocyte differentiation, behavioral response to ethanol, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of proteolysis, negative regulation of MHC class II biosynthetic process, negative regulation of DNA-binding transcription factor activity, negative regulation of DNA binding, negative regulation of apoptotic process, ATP-dependent chromatin remodeling, embryonic digit morphogenesis, positive regulation of tyrosine phosphorylation of STAT protein, response to drug, odontogenesis of dentin-containing tooth, response to cocaine, response to nicotine, cellular response to heat, positive regulation of collagen biosynthetic process, circadian regulation of gene expression, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 production, response to lipopolysaccharide, response to caffeine, histone deacetylation, dendrite development, negative regulation of neuron projection development, positive regulation of epithelial to mesenchymal transition, epidermal cell differentiation, positive regulation of cell population proliferation, blood coagulation, chromatin remodeling, cardiac muscle hypertrophy, response to amphetamine, negative regulation of transcription by RNA polymerase II, 215 198 212 199 197 233 186 176 184 ENSG00000196593 chr13 23939557 23946782 - ANKRD20A19P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000196597 chr9 96816472 96875623 - ZNF782 protein_coding 158431 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 16 19 11 21 31 47 36 38 32 ENSG00000196600 chr11 63163776 63229652 - SLC22A25 protein_coding 387601 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, GO:0015711, transmembrane transport, organic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000196604 chr2 130074030 130129222 - POTEF protein_coding 728378 GO:0072562, GO:0070062, GO:0005938, GO:0005615, blood microparticle, extracellular exosome, cell cortex, extracellular space, GO:0001895, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000196605 chr19 9751993 9793180 - ZNF846 protein_coding 162993 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 19 23 23 17 17 30 37 14 25 ENSG00000196611 chr11 102789920 102798160 - MMP1 protein_coding This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 4312 GO:0031012, GO:0005576, extracellular matrix, extracellular region, GO:0008270, GO:0008233, GO:0004252, GO:0004222, GO:0004222, GO:0004222, GO:0004175, zinc ion binding, peptidase activity, serine-type endopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, GO:0071492, GO:0050900, GO:0044267, GO:0031334, GO:0030574, GO:0030574, GO:0030198, GO:0022617, GO:0019221, GO:0016032, GO:0006508, cellular response to UV-A, leukocyte migration, cellular protein metabolic process, positive regulation of protein-containing complex assembly, collagen catabolic process, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, cytokine-mediated signaling pathway, viral process, proteolysis, 0 0 0 1 0 0 0 6 0 ENSG00000196616 chr4 99304964 99352760 - ADH1B protein_coding The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 125 GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005654, plasma membrane, cytosol, cytosol, cytosol, nucleoplasm, GO:0008270, GO:0008270, GO:0004745, GO:0004745, GO:0004024, GO:0004024, zinc ion binding, zinc ion binding, retinol dehydrogenase activity, retinol dehydrogenase activity, alcohol dehydrogenase activity, zinc-dependent, alcohol dehydrogenase activity, zinc-dependent, GO:0042573, GO:0042572, GO:0006069, GO:0006069, GO:0006069, GO:0001523, retinoic acid metabolic process, retinol metabolic process, ethanol oxidation, ethanol oxidation, ethanol oxidation, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000196620 chr4 68646630 68670628 - UGT2B15 protein_coding This gene encodes a glycosyltransferase that is invovled in the metabolism and elimination of toxic compounts, both endogenous and of xenobiotic origin. This gene plays a role in the regulation of estrogens and androgens. This locus is present in a cluster of similar genes and pseudogenes on chromosome 4. [provided by RefSeq, Aug 2016]. 7366 GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0015020, GO:0008194, GO:0001972, glucuronosyltransferase activity, UDP-glycosyltransferase activity, retinoic acid binding, GO:0052695, GO:0008202, GO:0006805, cellular glucuronidation, steroid metabolic process, xenobiotic metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000196628 chr18 55222331 55664787 - TCF4 protein_coding This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]. 6925 GO:1990907, GO:0070369, GO:0005667, GO:0005667, GO:0005634, GO:0000785, GO:0000785, GO:0000785, beta-catenin-TCF complex, beta-catenin-TCF7L2 complex, transcription regulator complex, transcription regulator complex, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0070888, GO:0046982, GO:0042802, GO:0008022, GO:0008013, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001093, GO:0000981, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, E-box binding, protein heterodimerization activity, identical protein binding, protein C-terminus binding, beta-catenin binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, TFIIB-class transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0065004, GO:0045944, GO:0045893, GO:0045666, GO:0006357, protein-DNA complex assembly, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of neuron differentiation, regulation of transcription by RNA polymerase II, 6 21 23 23 21 36 14 18 25 ENSG00000196632 chrX 54192823 54358642 - WNK3 protein_coding This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 65267 GO:0005923, GO:0005912, GO:0005829, GO:0005737, GO:0005737, bicellular tight junction, adherens junction, cytosol, cytoplasm, cytoplasm, GO:0106311, GO:0106310, GO:0019870, GO:0019869, GO:0019869, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, potassium channel inhibitor activity, chloride channel inhibitor activity, chloride channel inhibitor activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000651, GO:2000651, GO:2000651, GO:1904062, GO:1904062, GO:1903288, GO:1903078, GO:0090279, GO:0090188, GO:0072659, GO:0051928, GO:0051928, GO:0050801, GO:0050801, GO:0046777, GO:0043066, GO:0035633, GO:0035556, GO:0035556, GO:0032414, GO:0018107, GO:0010800, GO:0010766, GO:0010765, GO:0007231, GO:0006884, GO:0006884, GO:0006468, GO:0006468, positive regulation of sodium ion transmembrane transporter activity, positive regulation of sodium ion transmembrane transporter activity, positive regulation of sodium ion transmembrane transporter activity, regulation of cation transmembrane transport, regulation of cation transmembrane transport, positive regulation of potassium ion import across plasma membrane, positive regulation of protein localization to plasma membrane, regulation of calcium ion import, negative regulation of pancreatic juice secretion, protein localization to plasma membrane, positive regulation of calcium ion transport, positive regulation of calcium ion transport, ion homeostasis, ion homeostasis, protein autophosphorylation, negative regulation of apoptotic process, maintenance of blood-brain barrier, intracellular signal transduction, intracellular signal transduction, positive regulation of ion transmembrane transporter activity, peptidyl-threonine phosphorylation, positive regulation of peptidyl-threonine phosphorylation, negative regulation of sodium ion transport, positive regulation of sodium ion transport, osmosensory signaling pathway, cell volume homeostasis, cell volume homeostasis, protein phosphorylation, protein phosphorylation, 0 0 0 0 0 3 1 0 0 ENSG00000196634 chr6 147158925 147180992 + LUADT1 lincRNA 106182249 0 0 0 0 1 0 0 0 0 ENSG00000196636 chr7 97116590 97181763 + SDHAF3 protein_coding 57001 GO:0005759, GO:0005758, GO:0005758, mitochondrial matrix, mitochondrial intermembrane space, mitochondrial intermembrane space, GO:0034553, GO:0006111, GO:0006105, mitochondrial respiratory chain complex II assembly, regulation of gluconeogenesis, succinate metabolic process, 30 38 68 19 40 59 14 36 57 ENSG00000196639 chr3 11137093 11263557 + HRH1 protein_coding Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]. 3269 GO:0045202, GO:0030425, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005829, synapse, dendrite, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0030594, GO:0004993, GO:0004969, neurotransmitter receptor activity, G protein-coupled serotonin receptor activity, histamine receptor activity, GO:0098664, GO:0071420, GO:0048245, GO:0048167, GO:0048016, GO:0045907, GO:0043114, GO:0032962, GO:0008542, GO:0007613, GO:0007268, GO:0007200, GO:0007187, GO:0007186, GO:0007186, GO:0006954, G protein-coupled serotonin receptor signaling pathway, cellular response to histamine, eosinophil chemotaxis, regulation of synaptic plasticity, inositol phosphate-mediated signaling, positive regulation of vasoconstriction, regulation of vascular permeability, positive regulation of inositol trisphosphate biosynthetic process, visual learning, memory, chemical synaptic transmission, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, 2 1 19 7 2 4 1 0 1 ENSG00000196642 chr9 136807943 136841187 + RABL6 protein_coding This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. 55684 GO:0005829, GO:0005829, GO:0005813, GO:0005737, GO:0005634, GO:0005634, cytosol, cytosol, centrosome, cytoplasm, nucleus, nucleus, GO:0005525, GO:0005525, GO:0005515, GTP binding, GTP binding, protein binding, 223 264 283 209 260 224 225 222 153 ENSG00000196646 chr19 12163064 12189881 + ZNF136 protein_coding This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) A-box domain at its N-terminus, followed by fourteen contiguous C2H2 zinc finger domains and a degenerate zinc finger. The KRAB A-box showed weak transcriptional repressor activity in a reporter gene assay. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. 7695 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 362 263 353 244 197 263 218 148 255 ENSG00000196652 chr7 99504651 99534700 + ZKSCAN5 protein_coding This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 23660 GO:0005634, GO:0005634, nucleus, nucleus, GO:0008270, GO:0005515, GO:0003700, GO:0000981, GO:0000978, zinc ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 269 267 245 345 309 355 355 184 222 ENSG00000196653 chr3 44712643 44723831 + ZNF502 protein_coding 91392 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0044794, GO:0044791, GO:0006357, GO:0006355, positive regulation by host of viral process, positive regulation by host of viral release from host cell, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 2 3 7 4 9 0 1 5 ENSG00000196655 chr11 119018432 119025454 + TRAPPC4 protein_coding 51399 GO:0045211, GO:0045202, GO:0030425, GO:0030008, GO:0030008, GO:0030008, GO:0008021, GO:0005829, GO:0005795, GO:0005783, GO:0000139, postsynaptic membrane, synapse, dendrite, TRAPP complex, TRAPP complex, TRAPP complex, synaptic vesicle, cytosol, Golgi stack, endoplasmic reticulum, Golgi membrane, GO:0005515, protein binding, GO:0048208, GO:0016358, GO:0006914, GO:0006888, GO:0006888, COPII vesicle coating, dendrite development, autophagy, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 317 249 309 257 229 277 262 198 214 ENSG00000196656 chr4 113214046 113217170 - AC004057.1 transcribed_processed_pseudogene 99 44 63 171 57 125 165 78 43 ENSG00000196659 chr2 177548998 177553014 - TTC30B protein_coding 150737 GO:0097542, GO:0036064, GO:0030992, GO:0005929, GO:0005879, ciliary tip, ciliary basal body, intraciliary transport particle B, cilium, axonemal microtubule, GO:0120170, GO:0005515, intraciliary transport particle B binding, protein binding, GO:0042073, GO:0035735, intraciliary transport, intraciliary transport involved in cilium assembly, 10 16 16 7 16 8 13 14 4 ENSG00000196660 chr1 219685427 219958647 - SLC30A10 protein_coding This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]. 55532 GO:0055037, GO:0016021, GO:0005886, GO:0005886, GO:0005794, GO:0005769, recycling endosome, integral component of membrane, plasma membrane, plasma membrane, Golgi apparatus, early endosome, GO:0005515, GO:0005385, GO:0005384, protein binding, zinc ion transmembrane transporter activity, manganese ion transmembrane transporter activity, GO:2000773, GO:1905802, GO:1904385, GO:1903427, GO:0071579, GO:0071577, GO:0071421, GO:0070374, GO:0043524, GO:0007173, GO:0006882, GO:0006828, GO:0006828, negative regulation of cellular senescence, regulation of cellular response to manganese ion, cellular response to angiotensin, negative regulation of reactive oxygen species biosynthetic process, regulation of zinc ion transport, zinc ion transmembrane transport, manganese ion transmembrane transport, positive regulation of ERK1 and ERK2 cascade, negative regulation of neuron apoptotic process, epidermal growth factor receptor signaling pathway, cellular zinc ion homeostasis, manganese ion transport, manganese ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000196663 chr14 102362963 102502481 + TECPR2 protein_coding The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 9895 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0032527, GO:0006914, protein exit from endoplasmic reticulum, autophagy, 2884 3138 2870 1247 1875 1452 1624 1522 1198 ENSG00000196664 chrX 12867083 12890380 + TLR7 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. The human TLR family comprises 11 members. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. For the recognition of structural components in foreign microorganisms, the various TLRs exhibit different patterns of expression as well; in this way for example, TLR-3, -7, and -8 are essential in the recognition of single-stranded RNA viruses. TLR7 senses single-stranded RNA oligonucleotides containing guanosine- and uridine-rich sequences from RNA viruses, a recognition occuring in the endosomes of plasmacytoid dendritic cells and B cells. This gene is predominantly expressed in lung, placenta, and spleen, and is phylogenetically related and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Aug 2020]. 51284 GO:0043235, GO:0036020, GO:0032009, GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005768, GO:0005764, GO:0005737, GO:0000139, receptor complex, endolysosome membrane, early phagosome, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endosome, lysosome, cytoplasm, Golgi membrane, GO:0038187, GO:0035197, GO:0008144, GO:0004888, GO:0003727, GO:0003725, pattern recognition receptor activity, siRNA binding, drug binding, transmembrane signaling receptor activity, single-stranded RNA binding, double-stranded RNA binding, GO:1901224, GO:0071260, GO:0051607, GO:0051607, GO:0050729, GO:0045087, GO:0034162, GO:0034154, GO:0032757, GO:0032757, GO:0032755, GO:0032729, GO:0032728, GO:0032727, GO:0032722, GO:0007252, GO:0007249, GO:0006955, GO:0002755, GO:0002224, GO:0002224, GO:0001932, GO:0001774, positive regulation of NIK/NF-kappaB signaling, cellular response to mechanical stimulus, defense response to virus, defense response to virus, positive regulation of inflammatory response, innate immune response, toll-like receptor 9 signaling pathway, toll-like receptor 7 signaling pathway, positive regulation of interleukin-8 production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interferon-gamma production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of chemokine production, I-kappaB phosphorylation, I-kappaB kinase/NF-kappaB signaling, immune response, MyD88-dependent toll-like receptor signaling pathway, toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of protein phosphorylation, microglial cell activation, 6 1 7 4 3 3 3 5 0 ENSG00000196666 chr11 47586693 47589194 + FAM180B protein_coding 399888 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000196668 chr12 116533422 116536518 + LINC00173 processed_transcript 100287569 171 398 421 54 207 171 54 147 187 ENSG00000196670 chr5 180847611 180861285 - ZFP62 protein_coding 643836 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 25 33 53 72 51 79 61 56 74 ENSG00000196678 chr16 20780193 20900349 - ERI2 protein_coding 112479 GO:0008270, GO:0003676, GO:0000175, zinc ion binding, nucleic acid binding, 3'-5'-exoribonuclease activity, GO:0000738, GO:0000467, DNA catabolic process, exonucleolytic, exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 10 8 8 6 17 14 4 4 15 ENSG00000196683 chr7 22812628 22822852 - TOMM7 protein_coding This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]. 54543 GO:0016021, GO:0005742, GO:0005742, GO:0005741, GO:0005739, integral component of membrane, mitochondrial outer membrane translocase complex, mitochondrial outer membrane translocase complex, mitochondrial outer membrane, mitochondrion, GO:0008320, GO:0005515, protein transmembrane transporter activity, protein binding, GO:1903955, GO:0098779, GO:0031647, GO:0030150, GO:0016236, GO:0006626, positive regulation of protein targeting to mitochondrion, positive regulation of mitophagy in response to mitochondrial depolarization, regulation of protein stability, protein import into mitochondrial matrix, macroautophagy, protein targeting to mitochondrion, 204 141 312 372 240 415 296 185 328 ENSG00000196684 chr19 16134028 16158575 + HSH2D protein_coding T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]. 84941 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0007165, signal transduction, 2813 3117 3185 2887 4155 3889 3274 3300 3094 ENSG00000196689 chr17 3565444 3609411 - TRPV1 protein_coding Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]. 7442 GO:0045211, GO:0043025, GO:0032591, GO:0031226, GO:0016021, GO:0009897, GO:0005887, GO:0005887, GO:0005886, GO:0005829, GO:0005739, postsynaptic membrane, neuronal cell body, dendritic spine membrane, intrinsic component of plasma membrane, integral component of membrane, external side of plasma membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, cytosol, mitochondrion, GO:0097603, GO:0051219, GO:0046872, GO:0042802, GO:0035091, GO:0017081, GO:0015278, GO:0005524, GO:0005516, GO:0005515, GO:0005262, GO:0005231, GO:0005230, GO:0005216, GO:0004888, temperature-gated ion channel activity, phosphoprotein binding, metal ion binding, identical protein binding, phosphatidylinositol binding, chloride channel regulator activity, calcium-release channel activity, ATP binding, calmodulin binding, protein binding, calcium channel activity, excitatory extracellular ligand-gated ion channel activity, extracellular ligand-gated ion channel activity, ion channel activity, transmembrane signaling receptor activity, GO:1990090, GO:1901594, GO:1901594, GO:0098703, GO:0098703, GO:0090212, GO:0071502, GO:0071468, GO:0071356, GO:0071318, GO:0071312, GO:0070588, GO:0070588, GO:0060454, GO:0060083, GO:0060079, GO:0051289, GO:0051209, GO:0050968, GO:0050965, GO:0050960, GO:0050955, GO:0050954, GO:0048266, GO:0045429, GO:0043434, GO:0043065, GO:0034605, GO:0014047, GO:0010917, GO:0010459, GO:0007635, GO:0007166, GO:0006629, GO:0003085, GO:0002790, GO:0002024, GO:0001774, GO:0001660, GO:0000122, cellular response to nerve growth factor stimulus, response to capsazepine, response to capsazepine, calcium ion import across plasma membrane, calcium ion import across plasma membrane, negative regulation of establishment of blood-brain barrier, cellular response to temperature stimulus, cellular response to acidic pH, cellular response to tumor necrosis factor, cellular response to ATP, cellular response to alkaloid, calcium ion transmembrane transport, calcium ion transmembrane transport, positive regulation of gastric acid secretion, smooth muscle contraction involved in micturition, excitatory postsynaptic potential, protein homotetramerization, release of sequestered calcium ion into cytosol, detection of chemical stimulus involved in sensory perception of pain, detection of temperature stimulus involved in sensory perception of pain, detection of temperature stimulus involved in thermoception, thermoception, sensory perception of mechanical stimulus, behavioral response to pain, positive regulation of nitric oxide biosynthetic process, response to peptide hormone, positive regulation of apoptotic process, cellular response to heat, glutamate secretion, negative regulation of mitochondrial membrane potential, negative regulation of heart rate, chemosensory behavior, cell surface receptor signaling pathway, lipid metabolic process, negative regulation of systemic arterial blood pressure, peptide secretion, diet induced thermogenesis, microglial cell activation, fever generation, negative regulation of transcription by RNA polymerase II, 12 14 26 12 12 6 29 9 14 ENSG00000196693 chr10 42574185 42638568 - ZNF33B protein_coding This gene encodes a member of the zinc finger family of proteins. This gene shows decreased expression in cumulus cells derived from patients undergoing controlled ovarian stimulation. This gene is present in a gene cluster with several related zinc finger genes in the pericentromeric region of chromosome 10. Pseudogenes have been identified on chromosomes 7 and 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 7582 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 40 44 65 80 81 118 125 56 103 ENSG00000196696 chr16 69976297 70065948 - PDXDC2P-NPIPB14P processed_transcript This locus represents naturally-occurring readthrough transcription between two pseudogenes, PDXDC2P (pyridoxal dependent decarboxylase domain containing 2, pseudogene) and NPIPB14P (nuclear pore complex interacting protein family, member B14, pseudogene). The individual pseudogene loci are not curated as transcribed regions. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Feb 2017]. 283970 GO:0005783, endoplasmic reticulum, GO:0030170, GO:0016831, GO:0008117, pyridoxal phosphate binding, carboxy-lyase activity, sphinganine-1-phosphate aldolase activity, GO:0030149, GO:0019752, GO:0001667, sphingolipid catabolic process, carboxylic acid metabolic process, ameboidal-type cell migration, 10 25 18 20 24 41 31 15 16 ENSG00000196700 chr20 63956702 63969865 - ZNF512B protein_coding 57473 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 20 24 40 62 15 58 54 6 36 ENSG00000196704 chr17 68247574 68257164 + AMZ2 protein_coding The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by the general inhibitors o-phenanthroline and batimastat. Defects in this gene may be associated with lung tumorigenesis. [provided by RefSeq, Oct 2016]. 51321 GO:0005575, cellular_component, GO:0046872, GO:0008237, metal ion binding, metallopeptidase activity, GO:0006508, proteolysis, 224 219 287 138 179 218 134 168 162 ENSG00000196705 chr19 21142024 21196053 + ZNF431 protein_coding This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein may negatively regulate transcription of target genes, including the hedgehog signaling pathway receptor patched 1, by interacting with histone deacetylases. Mutations in this gene may be associated with non-syndromic facial clefting in human patients. [provided by RefSeq, Jul 2016]. 170959 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0003682, GO:0000981, GO:0000978, GO:0000978, metal ion binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0043433, GO:0030154, GO:0006355, GO:0000122, negative regulation of DNA-binding transcription factor activity, cell differentiation, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 181 159 202 236 211 231 290 137 119 ENSG00000196711 chr8 52534037 52565507 - ALKAL1 protein_coding 389658 GO:0005576, extracellular region, GO:0030971, GO:0030971, GO:0030298, GO:0030298, GO:0005515, receptor tyrosine kinase binding, receptor tyrosine kinase binding, receptor signaling protein tyrosine kinase activator activity, receptor signaling protein tyrosine kinase activator activity, protein binding, GO:0070378, GO:0070378, GO:0070374, GO:0070374, GO:0061098, GO:0010976, positive regulation of ERK5 cascade, positive regulation of ERK5 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein tyrosine kinase activity, positive regulation of neuron projection development, 0 0 0 0 0 0 0 0 0 ENSG00000196712 chr17 31094927 31382116 + NF1 protein_coding This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]. 4763 GO:0098793, GO:0030425, GO:0030424, GO:0016020, GO:0005829, GO:0005737, GO:0005730, GO:0005634, presynapse, dendrite, axon, membrane, cytosol, cytoplasm, nucleolus, nucleus, GO:0031210, GO:0008429, GO:0005515, GO:0005096, phosphatidylcholine binding, phosphatidylethanolamine binding, protein binding, GTPase activator activity, GO:2001241, GO:1900271, GO:0098597, GO:0061535, GO:0061534, GO:0050890, GO:0048853, GO:0048844, GO:0048820, GO:0048745, GO:0048715, GO:0048712, GO:0048593, GO:0048485, GO:0048169, GO:0048147, GO:0046929, GO:0045765, GO:0045762, GO:0045685, GO:0045671, GO:0045124, GO:0043547, GO:0043547, GO:0043547, GO:0043535, GO:0043525, GO:0043473, GO:0043409, GO:0043409, GO:0043407, GO:0043087, GO:0043065, GO:0042308, GO:0042060, GO:0035021, GO:0034605, GO:0032228, GO:0030336, GO:0030325, GO:0030199, GO:0030198, GO:0030036, GO:0022011, GO:0021987, GO:0021915, GO:0021897, GO:0021764, GO:0021510, GO:0016525, GO:0014065, GO:0014044, GO:0010468, GO:0008625, GO:0008542, GO:0007519, GO:0007507, GO:0007422, GO:0007420, GO:0007406, GO:0007265, GO:0007154, GO:0006469, GO:0001953, GO:0001952, GO:0001938, GO:0001937, GO:0001889, GO:0001666, GO:0001656, GO:0001649, GO:0000165, GO:0000165, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, regulation of long-term synaptic potentiation, observational learning, glutamate secretion, neurotransmission, gamma-aminobutyric acid secretion, neurotransmission, cognition, forebrain morphogenesis, artery morphogenesis, hair follicle maturation, smooth muscle tissue development, negative regulation of oligodendrocyte differentiation, negative regulation of astrocyte differentiation, camera-type eye morphogenesis, sympathetic nervous system development, regulation of long-term neuronal synaptic plasticity, negative regulation of fibroblast proliferation, negative regulation of neurotransmitter secretion, regulation of angiogenesis, positive regulation of adenylate cyclase activity, regulation of glial cell differentiation, negative regulation of osteoclast differentiation, regulation of bone resorption, positive regulation of GTPase activity, positive regulation of GTPase activity, positive regulation of GTPase activity, regulation of blood vessel endothelial cell migration, positive regulation of neuron apoptotic process, pigmentation, negative regulation of MAPK cascade, negative regulation of MAPK cascade, negative regulation of MAP kinase activity, regulation of GTPase activity, positive regulation of apoptotic process, negative regulation of protein import into nucleus, wound healing, negative regulation of Rac protein signal transduction, cellular response to heat, regulation of synaptic transmission, GABAergic, negative regulation of cell migration, adrenal gland development, collagen fibril organization, extracellular matrix organization, actin cytoskeleton organization, myelination in peripheral nervous system, cerebral cortex development, neural tube development, forebrain astrocyte development, amygdala development, spinal cord development, negative regulation of angiogenesis, phosphatidylinositol 3-kinase signaling, Schwann cell development, regulation of gene expression, extrinsic apoptotic signaling pathway via death domain receptors, visual learning, skeletal muscle tissue development, heart development, peripheral nervous system development, brain development, negative regulation of neuroblast proliferation, Ras protein signal transduction, cell communication, negative regulation of protein kinase activity, negative regulation of cell-matrix adhesion, regulation of cell-matrix adhesion, positive regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, liver development, response to hypoxia, metanephros development, osteoblast differentiation, MAPK cascade, MAPK cascade, 1855 1984 2822 432 869 851 640 814 807 ENSG00000196715 chr7 65873166 65959563 + VKORC1L1 protein_coding This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016]. 154807 GO:0016021, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0048038, GO:0047057, GO:0047057, GO:0047057, GO:0005515, quinone binding, vitamin-K-epoxide reductase (warfarin-sensitive) activity, vitamin-K-epoxide reductase (warfarin-sensitive) activity, vitamin-K-epoxide reductase (warfarin-sensitive) activity, protein binding, GO:0055114, GO:0042373, GO:0042373, GO:0042373, GO:0034599, GO:0017187, GO:0017187, oxidation-reduction process, vitamin K metabolic process, vitamin K metabolic process, vitamin K metabolic process, cellular response to oxidative stress, peptidyl-glutamic acid carboxylation, peptidyl-glutamic acid carboxylation, 40 93 118 35 84 85 38 83 75 ENSG00000196724 chr19 57921884 57935393 - ZNF418 protein_coding 147686 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 7 9 1 7 6 7 8 5 8 ENSG00000196730 chr9 87497228 87708633 + DAPK1 protein_coding Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 1612 GO:0015629, GO:0005886, GO:0005737, GO:0005737, GO:0005634, actin cytoskeleton, plasma membrane, cytoplasm, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0042802, GO:0017075, GO:0005525, GO:0005524, GO:0005516, GO:0005515, GO:0004683, GO:0004674, GO:0004674, GO:0004672, protein threonine kinase activity, protein serine kinase activity, identical protein binding, syntaxin-1 binding, GTP binding, ATP binding, calmodulin binding, protein binding, calmodulin-dependent protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:2000310, GO:0097190, GO:0071447, GO:0071346, GO:0046777, GO:0046777, GO:0043280, GO:0043066, GO:0043065, GO:0042981, GO:0035556, GO:0035556, GO:0017148, GO:0010508, GO:0010506, GO:0008625, GO:0006915, GO:0006915, GO:0006468, GO:0006468, regulation of NMDA receptor activity, apoptotic signaling pathway, cellular response to hydroperoxide, cellular response to interferon-gamma, protein autophosphorylation, protein autophosphorylation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, intracellular signal transduction, intracellular signal transduction, negative regulation of translation, positive regulation of autophagy, regulation of autophagy, extrinsic apoptotic signaling pathway via death domain receptors, apoptotic process, apoptotic process, protein phosphorylation, protein phosphorylation, 901 768 1056 718 847 758 703 573 658 ENSG00000196734 chr1 152811971 152813109 + LCE1B protein_coding 353132 GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000196735 chr6 32628179 32647062 + HLA-DQA1 protein_coding HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]. 3117 GO:0071556, GO:0042613, GO:0032588, GO:0030669, GO:0030666, GO:0030658, GO:0016020, GO:0012507, GO:0010008, GO:0005887, GO:0005886, GO:0005765, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, MHC class II protein complex, trans-Golgi network membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, membrane, ER to Golgi transport vesicle membrane, endosome membrane, integral component of plasma membrane, plasma membrane, lysosomal membrane, Golgi membrane, GO:0042605, GO:0032395, GO:0032395, GO:0005515, peptide antigen binding, MHC class II receptor activity, MHC class II receptor activity, protein binding, GO:0060333, GO:0050852, GO:0019886, GO:0006955, GO:0002250, interferon-gamma-mediated signaling pathway, T cell receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class II, immune response, adaptive immune response, 41 0 136 207 0 273 210 0 289 ENSG00000196739 chr9 114155560 114312511 + COL27A1 protein_coding This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]. 85301 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005583, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, fibrillar collagen trimer, extracellular region, GO:0046872, GO:0030020, GO:0005201, metal ion binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, GO:0030198, GO:0003431, extracellular matrix organization, growth plate cartilage chondrocyte development, 2 6 6 6 6 6 8 13 20 ENSG00000196741 chrX 47483571 47484823 + LINC01560 lincRNA 1 3 8 7 2 3 0 1 2 ENSG00000196743 chr5 151212150 151270440 + GM2A protein_coding This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. 2760 GO:0070062, GO:0043202, GO:0035578, GO:0016324, GO:0016323, GO:0009898, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, apical plasma membrane, basolateral plasma membrane, cytoplasmic side of plasma membrane, extracellular region, GO:0032428, GO:0030290, GO:0016004, GO:0005319, beta-N-acetylgalactosaminidase activity, sphingolipid activator protein activity, phospholipase activator activity, lipid transporter activity, GO:0051345, GO:0050885, GO:0043312, GO:0019915, GO:0009313, GO:0007611, GO:0006869, GO:0006689, GO:0006687, positive regulation of hydrolase activity, neuromuscular process controlling balance, neutrophil degranulation, lipid storage, oligosaccharide catabolic process, learning or memory, lipid transport, ganglioside catabolic process, glycosphingolipid metabolic process, 161 173 197 79 105 133 46 93 63 ENSG00000196747 chr6 27808199 27808701 + HIST1H2AI protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8329 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0019899, GO:0005515, GO:0003677, protein heterodimerization activity, enzyme binding, protein binding, DNA binding, GO:0008150, GO:0006342, biological_process, chromatin silencing, 2 4 1 0 3 0 0 3 2 ENSG00000196748 chr6 35776594 35779552 + CLPSL2 protein_coding 389383 GO:0005576, extracellular region, GO:0008047, GO:0005515, enzyme activator activity, protein binding, GO:0043085, GO:0032094, GO:0016042, GO:0007586, positive regulation of catalytic activity, response to food, lipid catabolic process, digestion, 0 0 0 0 0 0 0 0 0 ENSG00000196754 chr1 153561108 153567890 - S100A2 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008]. 6273 GO:0005575, cellular_component, GO:0048306, GO:0046914, GO:0042802, GO:0005515, GO:0005509, GO:0005509, calcium-dependent protein binding, transition metal ion binding, identical protein binding, protein binding, calcium ion binding, calcium ion binding, GO:0043542, GO:0043542, endothelial cell migration, endothelial cell migration, 0 2 0 13 23 14 6 8 13 ENSG00000196756 chr20 38420588 38435353 - SNHG17 processed_transcript 388796 18 17 33 76 55 93 57 43 57 ENSG00000196757 chr19 11925068 11950773 + ZNF700 protein_coding 90592 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 323 332 467 516 481 648 500 293 479 ENSG00000196758 chr2 239578301 239586094 + AC079612.1 lincRNA 401040 0 0 0 0 0 0 0 0 0 ENSG00000196767 chrX 83508261 83512127 + POU3F4 protein_coding This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012]. 5456 GO:0005654, GO:0000785, GO:0000785, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2001054, GO:0090103, GO:0007605, GO:0007420, GO:0006357, negative regulation of mesenchymal cell apoptotic process, cochlea morphogenesis, sensory perception of sound, brain development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000196772 chr1 247814660 247824119 - OR14A16 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 284532 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196776 chr3 108043094 108091862 - CD47 protein_coding This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]. 961 GO:0070821, GO:0070062, GO:0035579, GO:0009986, GO:0009986, GO:0009986, GO:0005887, GO:0005886, tertiary granule membrane, extracellular exosome, specific granule membrane, cell surface, cell surface, cell surface, integral component of plasma membrane, plasma membrane, GO:0098632, GO:0086080, GO:0070053, GO:0070053, GO:0005515, cell-cell adhesion mediator activity, protein binding involved in heterotypic cell-cell adhesion, thrombospondin receptor activity, thrombospondin receptor activity, protein binding, GO:1905450, GO:1904669, GO:0071349, GO:0071347, GO:0071346, GO:0051496, GO:0050900, GO:0050870, GO:0050766, GO:0050729, GO:0045428, GO:0043312, GO:0035696, GO:0034113, GO:0032680, GO:0032675, GO:0032655, GO:0032653, GO:0032649, GO:0030198, GO:0022409, GO:0022409, GO:0016477, GO:0009617, GO:0008284, GO:0008228, GO:0007229, negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis, ATP export, cellular response to interleukin-12, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of stress fiber assembly, leukocyte migration, positive regulation of T cell activation, positive regulation of phagocytosis, positive regulation of inflammatory response, regulation of nitric oxide biosynthetic process, neutrophil degranulation, monocyte extravasation, heterotypic cell-cell adhesion, regulation of tumor necrosis factor production, regulation of interleukin-6 production, regulation of interleukin-12 production, regulation of interleukin-10 production, regulation of interferon-gamma production, extracellular matrix organization, positive regulation of cell-cell adhesion, positive regulation of cell-cell adhesion, cell migration, response to bacterium, positive regulation of cell population proliferation, opsonization, integrin-mediated signaling pathway, 1109 1009 1371 868 819 973 764 673 800 ENSG00000196778 chr11 4482646 4493497 + OR52K1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390036 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 18 18 18 21 22 32 34 20 24 ENSG00000196781 chr9 81583683 81689305 - TLE1 protein_coding 7088 GO:1990907, GO:0005829, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, beta-catenin-TCF complex, cytosol, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:0070491, GO:0042802, GO:0008134, GO:0008134, GO:0005515, GO:0003714, GO:0003714, repressing transcription factor binding, identical protein binding, transcription factor binding, transcription factor binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:2000811, GO:1904837, GO:0090090, GO:0045892, GO:0043124, GO:0030178, GO:0016055, GO:0010628, GO:0009887, GO:0007275, GO:0007165, negative regulation of anoikis, beta-catenin-TCF complex assembly, negative regulation of canonical Wnt signaling pathway, negative regulation of transcription, DNA-templated, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of Wnt signaling pathway, Wnt signaling pathway, positive regulation of gene expression, animal organ morphogenesis, multicellular organism development, signal transduction, 10 30 56 15 19 26 18 21 5 ENSG00000196782 chr4 139716753 140154184 - MAML3 protein_coding 55534 GO:0016607, GO:0005654, GO:0005654, GO:0005634, nuclear speck, nucleoplasm, nucleoplasm, nucleus, GO:0003713, GO:0003713, transcription coactivator activity, transcription coactivator activity, GO:0045944, GO:0045747, GO:0007221, GO:0007221, GO:0007219, GO:0007219, GO:0006367, positive regulation of transcription by RNA polymerase II, positive regulation of Notch signaling pathway, positive regulation of transcription of Notch receptor target, positive regulation of transcription of Notch receptor target, Notch signaling pathway, Notch signaling pathway, transcription initiation from RNA polymerase II promoter, 412 422 550 162 310 229 201 205 249 ENSG00000196787 chr6 27133042 27135291 + HIST1H2AG protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]. 8969 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0019899, GO:0005515, GO:0003677, protein heterodimerization activity, enzyme binding, protein binding, DNA binding, GO:0008150, GO:0006342, biological_process, chromatin silencing, 8 2 6 4 6 11 4 2 5 ENSG00000196792 chr14 30893799 31026401 - STRN3 protein_coding 29966 GO:0090443, GO:0043025, GO:0032991, GO:0030425, GO:0030425, GO:0005886, GO:0005794, GO:0005654, FAR/SIN/STRIPAK complex, neuronal cell body, protein-containing complex, dendrite, dendrite, plasma membrane, Golgi apparatus, nucleoplasm, GO:0070016, GO:0070016, GO:0051721, GO:0051721, GO:0044877, GO:0044877, GO:0031267, GO:0005516, GO:0005516, GO:0005515, armadillo repeat domain binding, armadillo repeat domain binding, protein phosphatase 2A binding, protein phosphatase 2A binding, protein-containing complex binding, protein-containing complex binding, small GTPase binding, calmodulin binding, calmodulin binding, protein binding, GO:0045892, GO:0033147, GO:0032355, negative regulation of transcription, DNA-templated, negative regulation of intracellular estrogen receptor signaling pathway, response to estradiol, 184 244 210 240 253 275 235 190 184 ENSG00000196793 chr10 43556344 43574618 - ZNF239 protein_coding MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008]. 8187 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003723, GO:0003677, GO:0001227, GO:0001227, GO:0000981, GO:0000978, GO:0000978, metal ion binding, protein binding, RNA binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 1 5 8 0 2 4 5 0 ENSG00000196796 chr16 29038655 29052726 + NPIPB10P unprocessed_pseudogene 2 2 0 1 6 15 5 1 3 ENSG00000196800 chr5 148169733 148175398 + SPINK14 protein_coding 408187 GO:0005576, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000196805 chr1 153070224 153070840 - SPRR2B protein_coding 6701 GO:0005829, GO:0001533, GO:0001533, cytosol, cornified envelope, cornified envelope, GO:0070268, GO:0030216, GO:0008544, cornification, keratinocyte differentiation, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000196810 chr4 1249300 1288291 + CTBP1-DT antisense 18 32 42 120 75 67 71 37 65 ENSG00000196811 chr2 232539727 232546403 + CHRNG protein_coding The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]. 1146 GO:0045211, GO:0045202, GO:0043005, GO:0005887, GO:0005886, postsynaptic membrane, synapse, neuron projection, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0022848, GO:0015464, GO:0015267, GO:0005515, neurotransmitter receptor activity, acetylcholine-gated cation-selective channel activity, acetylcholine receptor activity, channel activity, protein binding, GO:0060079, GO:0050877, GO:0042391, GO:0034220, GO:0007271, GO:0007268, GO:0007165, GO:0006936, excitatory postsynaptic potential, nervous system process, regulation of membrane potential, ion transmembrane transport, synaptic transmission, cholinergic, chemical synaptic transmission, signal transduction, muscle contraction, 1 4 2 0 0 3 1 3 3 ENSG00000196812 chr6 28124560 28130082 + ZSCAN16 protein_coding 80345 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 47 60 47 42 73 38 55 51 19 ENSG00000196814 chr9 126326849 126507041 + MVB12B protein_coding The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 89853 GO:0070062, GO:0043657, GO:0031982, GO:0031902, GO:0010008, GO:0005886, GO:0005829, GO:0005770, GO:0005770, GO:0005769, GO:0005634, GO:0000813, GO:0000813, extracellular exosome, host cell, vesicle, late endosome membrane, endosome membrane, plasma membrane, cytosol, late endosome, late endosome, early endosome, nucleus, ESCRT I complex, ESCRT I complex, GO:0043130, GO:0008289, GO:0005515, ubiquitin binding, lipid binding, protein binding, GO:0075733, GO:0046755, GO:0046755, GO:0043162, GO:0042058, GO:0042058, GO:0019075, GO:0019075, GO:0019058, GO:0016197, GO:0015031, intracellular transport of virus, viral budding, viral budding, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, regulation of epidermal growth factor receptor signaling pathway, regulation of epidermal growth factor receptor signaling pathway, virus maturation, virus maturation, viral life cycle, endosomal transport, protein transport, 21 15 51 23 15 62 15 8 27 ENSG00000196821 chr6 34587288 34696859 - C6orf106 protein_coding 64771 GO:0005737, GO:0005634, GO:0000407, cytoplasm, nucleus, phagophore assembly site, GO:0043130, GO:0005515, ubiquitin binding, protein binding, GO:1900181, GO:0050687, GO:0045087, GO:0043392, GO:0032720, GO:0032480, GO:0016236, negative regulation of protein localization to nucleus, negative regulation of defense response to virus, innate immune response, negative regulation of DNA binding, negative regulation of tumor necrosis factor production, negative regulation of type I interferon production, macroautophagy, 1213 1229 1688 466 565 544 433 518 389 ENSG00000196826 chr19 12461559 12551474 - AC008758.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000196832 chr14 20190894 20201075 + OR11G2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390439 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 1 0 ENSG00000196834 chr2 130459455 130509666 - POTEI protein_coding 653269 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0003674, molecular_function, GO:0001895, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000196839 chr20 44619522 44652233 - ADA protein_coding This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]. 100 GO:0060205, GO:0043025, GO:0032839, GO:0030054, GO:0016020, GO:0009986, GO:0009897, GO:0009897, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005764, GO:0005615, cytoplasmic vesicle lumen, neuronal cell body, dendrite cytoplasm, cell junction, membrane, cell surface, external side of plasma membrane, external side of plasma membrane, plasma membrane, cytosol, cytosol, cytosol, lysosome, extracellular space, GO:0008270, GO:0008270, GO:0005515, GO:0004000, GO:0004000, GO:0004000, GO:0004000, GO:0001883, zinc ion binding, zinc ion binding, protein binding, adenosine deaminase activity, adenosine deaminase activity, adenosine deaminase activity, adenosine deaminase activity, purine nucleoside binding, GO:0070256, GO:0070244, GO:0060407, GO:0060169, GO:0060169, GO:0050862, GO:0050850, GO:0050728, GO:0048566, GO:0048541, GO:0048286, GO:0046638, GO:0046111, GO:0046103, GO:0046103, GO:0046103, GO:0046061, GO:0045987, GO:0043278, GO:0043103, GO:0043101, GO:0042542, GO:0042493, GO:0042323, GO:0042110, GO:0042110, GO:0033632, GO:0033197, GO:0033089, GO:0032261, GO:0030890, GO:0010460, GO:0009168, GO:0007568, GO:0007155, GO:0006157, GO:0006154, GO:0006154, GO:0006154, GO:0002906, GO:0002686, GO:0002636, GO:0002314, GO:0001890, GO:0001889, GO:0001829, GO:0001821, GO:0001666, negative regulation of mucus secretion, negative regulation of thymocyte apoptotic process, negative regulation of penile erection, negative regulation of adenosine receptor signaling pathway, negative regulation of adenosine receptor signaling pathway, positive regulation of T cell receptor signaling pathway, positive regulation of calcium-mediated signaling, negative regulation of inflammatory response, embryonic digestive tract development, Peyer's patch development, lung alveolus development, positive regulation of alpha-beta T cell differentiation, xanthine biosynthetic process, inosine biosynthetic process, inosine biosynthetic process, inosine biosynthetic process, dATP catabolic process, positive regulation of smooth muscle contraction, response to morphine, hypoxanthine salvage, purine-containing compound salvage, response to hydrogen peroxide, response to drug, negative regulation of circadian sleep/wake cycle, non-REM sleep, T cell activation, T cell activation, regulation of cell-cell adhesion mediated by integrin, response to vitamin E, positive regulation of T cell differentiation in thymus, purine nucleotide salvage, positive regulation of B cell proliferation, positive regulation of heart rate, purine ribonucleoside monophosphate biosynthetic process, aging, cell adhesion, deoxyadenosine catabolic process, adenosine catabolic process, adenosine catabolic process, adenosine catabolic process, negative regulation of mature B cell apoptotic process, negative regulation of leukocyte migration, positive regulation of germinal center formation, germinal center B cell differentiation, placenta development, liver development, trophectodermal cell differentiation, histamine secretion, response to hypoxia, 12 10 37 41 22 61 35 15 72 ENSG00000196843 chr2 96536743 96552638 + ARID5A protein_coding Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]. 10865 GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleus, GO:0050681, GO:0046966, GO:0046965, GO:0043565, GO:0042802, GO:0030331, GO:0008134, GO:0005515, GO:0003723, GO:0003714, GO:0003677, GO:0000976, androgen receptor binding, thyroid hormone receptor binding, retinoid X receptor binding, sequence-specific DNA binding, identical protein binding, estrogen receptor binding, transcription factor binding, protein binding, RNA binding, transcription corepressor activity, DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071391, GO:0045892, GO:0045087, GO:0006357, GO:0000122, cellular response to estrogen stimulus, negative regulation of transcription, DNA-templated, innate immune response, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1989 1915 2784 1499 1651 1746 1634 1119 1462 ENSG00000196844 chr11 125776113 125778819 - PATE2 protein_coding 399967 GO:0005615, GO:0005615, extracellular space, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000196850 chr12 110533245 110583320 - PPTC7 protein_coding 160760 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0106307, GO:0106306, GO:0046872, GO:0005515, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, metal ion binding, protein binding, protein serine/threonine phosphatase activity, GO:0070262, GO:0010795, peptidyl-serine dephosphorylation, regulation of ubiquinone biosynthetic process, 815 1276 1314 709 1403 1019 878 1243 1064 ENSG00000196859 chr17 40958417 40966892 - KRT39 protein_coding This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]. 390792 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000196860 chr14 58395916 58408701 + TOMM20L protein_coding 387990 GO:0031307, GO:0005742, integral component of mitochondrial outer membrane, mitochondrial outer membrane translocase complex, GO:0030943, GO:0008320, GO:0005515, mitochondrion targeting sequence binding, protein transmembrane transporter activity, protein binding, GO:0030150, GO:0016031, protein import into mitochondrial matrix, tRNA import into mitochondrion, 0 2 1 1 2 13 3 4 10 ENSG00000196862 chr2 107826937 107890841 + RGPD4 protein_coding 285190 GO:0005737, GO:0005643, cytoplasm, nuclear pore, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0043547, GO:0006607, positive regulation of GTPase activity, NLS-bearing protein import into nucleus, 0 2 1 1 0 0 1 1 0 ENSG00000196865 chr10 113854661 113917194 + NHLRC2 protein_coding 374354 GO:0031093, GO:0005829, GO:0005576, platelet alpha granule lumen, cytosol, extracellular region, GO:0005515, protein binding, GO:0002576, platelet degranulation, 44 51 66 67 79 127 63 57 70 ENSG00000196866 chr6 26198851 26199243 - HIST1H2AD protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 3013 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0003677, GO:0003674, protein heterodimerization activity, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 0 1 0 0 0 3 0 0 0 ENSG00000196867 chr19 56538948 56556810 + ZFP28 protein_coding 140612 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 4 6 23 4 4 15 10 1 ENSG00000196872 chr2 98793846 98936259 - KIAA1211L protein_coding 343990 65 68 54 21 50 48 39 61 63 ENSG00000196873 chr9 68232003 68300015 + CBWD3 protein_coding 445571 GO:0005737, cytoplasm, GO:0005524, GO:0005515, ATP binding, protein binding, 121 151 170 238 236 343 237 170 295 ENSG00000196876 chr12 51590266 51812864 + SCN8A protein_coding This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 6334 GO:0043194, GO:0033268, GO:0031410, GO:0030424, GO:0030424, GO:0030054, GO:0030018, GO:0016021, GO:0005886, GO:0001518, GO:0001518, axon initial segment, node of Ranvier, cytoplasmic vesicle, axon, axon, cell junction, Z disc, integral component of membrane, plasma membrane, voltage-gated sodium channel complex, voltage-gated sodium channel complex, GO:0005524, GO:0005515, GO:0005248, GO:0005248, GO:0005248, GO:0005248, GO:0005244, ATP binding, protein binding, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated sodium channel activity, voltage-gated ion channel activity, GO:0086010, GO:0042552, GO:0035725, GO:0034765, GO:0019228, GO:0007422, GO:0007399, GO:0006814, membrane depolarization during action potential, myelination, sodium ion transmembrane transport, regulation of ion transmembrane transport, neuronal action potential, peripheral nervous system development, nervous system development, sodium ion transport, 0 0 1 0 0 0 2 0 3 ENSG00000196878 chr1 209614870 209652466 - LAMB3 protein_coding The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 3914 GO:0062023, GO:0043256, GO:0005610, GO:0005576, collagen-containing extracellular matrix, laminin complex, laminin-5 complex, extracellular region, GO:0044877, GO:0005515, GO:0005201, GO:0005201, GO:0005198, protein-containing complex binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, structural molecule activity, GO:0070831, GO:0050873, GO:0035987, GO:0034446, GO:0031581, GO:0030198, GO:0016477, GO:0009888, GO:0009887, GO:0008544, basement membrane assembly, brown fat cell differentiation, endodermal cell differentiation, substrate adhesion-dependent cell spreading, hemidesmosome assembly, extracellular matrix organization, cell migration, tissue development, animal organ morphogenesis, epidermis development, 438 367 954 163 162 402 351 195 276 ENSG00000196890 chr1 228458107 228460470 + HIST3H2BB protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]. 128312 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000786, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleosome, GO:0046982, GO:0003677, GO:0003674, protein heterodimerization activity, DNA binding, molecular_function, GO:0006334, nucleosome assembly, 1 3 9 1 5 5 2 2 5 ENSG00000196893 chr17 18951625 18954149 - AC090286.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000196900 chr5 126631722 126636287 + TEX43 protein_coding 389320 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000196911 chr6 116681187 116741866 + KPNA5 protein_coding The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. [provided by RefSeq, Jul 2008]. 3841 GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0061608, GO:0008139, GO:0005515, nuclear import signal receptor activity, nuclear localization sequence binding, protein binding, GO:0019054, GO:0006607, modulation by virus of host cellular process, NLS-bearing protein import into nucleus, 27 42 90 132 23 129 77 35 57 ENSG00000196912 chr2 97492663 97589965 - ANKRD36B protein_coding 57730 GO:0005515, protein binding, 18 16 74 72 8 55 70 10 13 ENSG00000196914 chr11 120336914 120489936 + ARHGEF12 protein_coding Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. 23365 GO:0070062, GO:0016020, GO:0005829, GO:0005737, extracellular exosome, membrane, cytosol, cytoplasm, GO:0005515, GO:0005096, GO:0005085, GO:0001664, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, G protein-coupled receptor binding, GO:0051056, GO:0043547, GO:0043065, GO:0007266, GO:0007186, GO:0007186, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, positive regulation of apoptotic process, Rho protein signal transduction, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 20 26 57 49 19 71 43 20 50 ENSG00000196917 chr12 122726076 122730843 - HCAR1 protein_coding G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005]. 27198 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 18 16 26 7 6 3 10 9 9 ENSG00000196922 chr8 144973589 145002895 - ZNF252P transcribed_unprocessed_pseudogene 286101 69 96 101 45 106 103 98 87 58 ENSG00000196923 chr5 177483394 177497606 - PDLIM7 protein_coding The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 9260 GO:0031941, GO:0030018, GO:0015629, GO:0005925, GO:0005912, GO:0005912, GO:0005829, GO:0005654, GO:0001726, GO:0001725, filamentous actin, Z disc, actin cytoskeleton, focal adhesion, adherens junction, adherens junction, cytosol, nucleoplasm, ruffle, stress fiber, GO:0051371, GO:0046872, GO:0005515, GO:0003779, muscle alpha-actinin binding, metal ion binding, protein binding, actin binding, GO:0061061, GO:0030036, GO:0007507, GO:0007411, GO:0006898, GO:0001503, muscle structure development, actin cytoskeleton organization, heart development, axon guidance, receptor-mediated endocytosis, ossification, 4250 4853 6554 2124 3946 3570 2732 2909 2890 ENSG00000196924 chrX 154348524 154374638 - FLNA protein_coding The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]. 2316 GO:0098978, GO:0098794, GO:0097440, GO:0070062, GO:0048471, GO:0043204, GO:0043198, GO:0031523, GO:0030863, GO:0030426, GO:0030018, GO:0016020, GO:0015629, GO:0015629, GO:0005925, GO:0005911, GO:0005886, GO:0005884, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005634, GO:0005576, glutamatergic synapse, postsynapse, apical dendrite, extracellular exosome, perinuclear region of cytoplasm, perikaryon, dendritic shaft, Myb complex, cortical cytoskeleton, growth cone, Z disc, membrane, actin cytoskeleton, actin cytoskeleton, focal adhesion, cell-cell junction, plasma membrane, actin filament, cytosol, cytosol, cytoplasm, nucleolus, nucleus, extracellular region, GO:0051020, GO:0051015, GO:0046332, GO:0045296, GO:0044325, GO:0042803, GO:0034988, GO:0031852, GO:0031267, GO:0019900, GO:0015459, GO:0008134, GO:0005515, GO:0003723, GO:0001664, GTPase binding, actin filament binding, SMAD binding, cadherin binding, ion channel binding, protein homodimerization activity, Fc-gamma receptor I complex binding, mu-type opioid receptor binding, small GTPase binding, kinase binding, potassium channel regulator activity, transcription factor binding, protein binding, RNA binding, G protein-coupled receptor binding, GO:2001224, GO:2001046, GO:2000179, GO:1905031, GO:1905000, GO:1902396, GO:1901381, GO:1900026, GO:0097368, GO:0090307, GO:0090042, GO:0072659, GO:0071526, GO:0070527, GO:0060271, GO:0051764, GO:0051607, GO:0051220, GO:0050821, GO:0045184, GO:0044319, GO:0043433, GO:0043123, GO:0043113, GO:0043066, GO:0042789, GO:0042307, GO:0042177, GO:0034394, GO:0034329, GO:0032233, GO:0031532, GO:0030334, GO:0030168, GO:0021987, GO:0021943, GO:0016479, GO:0007195, GO:0002576, positive regulation of neuron migration, positive regulation of integrin-mediated signaling pathway, positive regulation of neural precursor cell proliferation, regulation of membrane repolarization during cardiac muscle cell action potential, regulation of membrane repolarization during atrial cardiac muscle cell action potential, protein localization to bicellular tight junction, positive regulation of potassium ion transmembrane transport, positive regulation of substrate adhesion-dependent cell spreading, establishment of Sertoli cell barrier, mitotic spindle assembly, tubulin deacetylation, protein localization to plasma membrane, semaphorin-plexin signaling pathway, platelet aggregation, cilium assembly, actin crosslink formation, defense response to virus, cytoplasmic sequestering of protein, protein stabilization, establishment of protein localization, wound healing, spreading of cells, negative regulation of DNA-binding transcription factor activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, receptor clustering, negative regulation of apoptotic process, mRNA transcription by RNA polymerase II, positive regulation of protein import into nucleus, negative regulation of protein catabolic process, protein localization to cell surface, cell junction assembly, positive regulation of actin filament bundle assembly, actin cytoskeleton reorganization, regulation of cell migration, platelet activation, cerebral cortex development, formation of radial glial scaffolds, negative regulation of transcription by RNA polymerase I, adenylate cyclase-inhibiting dopamine receptor signaling pathway, platelet degranulation, 5836 7554 11125 4929 4556 6913 5702 4361 5975 ENSG00000196932 chr10 61406643 61453450 - TMEM26 protein_coding This gene encodes a protein containing multiple transmembrane helices. It is a selective surface protein marker of brite/beige adipocytes, which may coexist with classical brown adipocytes in brown adipose tissue. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 219623 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000196933 chrX 72044545 72044892 + RPS26P11 processed_pseudogene 2 0 2 0 1 40 0 0 44 ENSG00000196935 chr12 63844293 64162221 + SRGAP1 protein_coding The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]. 57522 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:0051056, GO:0043547, GO:0030336, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, negative regulation of cell migration, signal transduction, 0 0 0 7 0 0 0 0 4 ENSG00000196937 chr7 121348851 121396364 - FAM3C protein_coding This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]. 10447 GO:0070062, GO:0031089, GO:0005794, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, platelet dense granule lumen, Golgi apparatus, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005125, protein binding, cytokine activity, GO:0045721, GO:0008150, GO:0007275, GO:0007165, GO:0002576, negative regulation of gluconeogenesis, biological_process, multicellular organism development, signal transduction, platelet degranulation, 26 8 40 24 7 19 35 16 38 ENSG00000196943 chr14 24299862 24309124 + NOP9 protein_coding 161424 GO:0030688, GO:0030686, GO:0005730, GO:0005575, preribosome, small subunit precursor, 90S preribosome, nucleolus, cellular_component, GO:0003723, GO:0003723, RNA binding, RNA binding, GO:0008150, GO:0000480, GO:0000472, GO:0000447, GO:0000056, biological_process, endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA), endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), ribosomal small subunit export from nucleus, 309 327 327 219 277 277 177 199 261 ENSG00000196944 chr1 248361581 248362627 + OR2T4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127074 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000196946 chr12 8157034 8188537 + ZNF705A protein_coding 440077 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2 0 2 2 2 0 7 0 0 ENSG00000196950 chr2 195575977 195737702 + SLC39A10 protein_coding Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]. 57181 GO:0005887, integral component of plasma membrane, GO:0005385, zinc ion transmembrane transporter activity, GO:1903615, GO:0071578, GO:0050861, GO:0030890, GO:0006882, GO:0002903, positive regulation of protein tyrosine phosphatase activity, zinc ion import across plasma membrane, positive regulation of B cell receptor signaling pathway, positive regulation of B cell proliferation, cellular zinc ion homeostasis, negative regulation of B cell apoptotic process, 30 32 49 84 42 78 65 40 25 ENSG00000196951 chr4 140283724 140373381 - SCOC-AS1 antisense 100129858 0 0 1 0 0 0 0 4 0 ENSG00000196954 chr11 104942866 104969436 - CASP4 protein_coding This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 837 GO:0097169, GO:0072559, GO:0072557, GO:0032991, GO:0005886, GO:0005829, GO:0005789, GO:0005783, GO:0005739, GO:0005737, GO:0005576, AIM2 inflammasome complex, NLRP3 inflammasome complex, IPAF inflammasome complex, protein-containing complex, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, cytoplasm, extracellular region, GO:0097200, GO:0097199, GO:0097153, GO:0050700, GO:0005515, GO:0004197, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, CARD domain binding, protein binding, cysteine-type endopeptidase activity, GO:1904646, GO:1903265, GO:0097194, GO:0097193, GO:0070269, GO:0070059, GO:0050727, GO:0050727, GO:0045087, GO:0016540, GO:0006954, GO:0006919, GO:0006915, GO:0006508, cellular response to amyloid-beta, positive regulation of tumor necrosis factor-mediated signaling pathway, execution phase of apoptosis, intrinsic apoptotic signaling pathway, pyroptosis, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, regulation of inflammatory response, regulation of inflammatory response, innate immune response, protein autoprocessing, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, proteolysis, 6391 5503 7552 5388 6790 6787 6629 4936 5065 ENSG00000196961 chr19 49766968 49807113 + AP2A1 protein_coding This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]. 160 GO:0045334, GO:0036020, GO:0032433, GO:0030669, GO:0030666, GO:0030130, GO:0030122, GO:0030122, GO:0030122, GO:0030122, GO:0016324, GO:0016323, GO:0016020, GO:0005886, GO:0005829, clathrin-coated endocytic vesicle, endolysosome membrane, filopodium tip, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, clathrin coat of trans-Golgi network vesicle, AP-2 adaptor complex, AP-2 adaptor complex, AP-2 adaptor complex, AP-2 adaptor complex, apical plasma membrane, basolateral plasma membrane, membrane, plasma membrane, cytosol, GO:0140312, GO:0050750, GO:0044877, GO:0035615, GO:0035615, GO:0019901, GO:0008022, GO:0005515, cargo adaptor activity, low-density lipoprotein particle receptor binding, protein-containing complex binding, clathrin adaptor activity, clathrin adaptor activity, protein kinase binding, protein C-terminus binding, protein binding, GO:1900126, GO:1900126, GO:0072583, GO:0072583, GO:0072583, GO:0072583, GO:0061024, GO:0060071, GO:0050690, GO:0048260, GO:0048013, GO:0034383, GO:0032802, GO:0019886, GO:0010976, GO:0006898, GO:0006897, GO:0006895, GO:0006886, negative regulation of hyaluronan biosynthetic process, negative regulation of hyaluronan biosynthetic process, clathrin-dependent endocytosis, clathrin-dependent endocytosis, clathrin-dependent endocytosis, clathrin-dependent endocytosis, membrane organization, Wnt signaling pathway, planar cell polarity pathway, regulation of defense response to virus by virus, positive regulation of receptor-mediated endocytosis, ephrin receptor signaling pathway, low-density lipoprotein particle clearance, low-density lipoprotein particle receptor catabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class II, positive regulation of neuron projection development, receptor-mediated endocytosis, endocytosis, Golgi to endosome transport, intracellular protein transport, 1349 1667 1672 903 1460 946 1004 1077 896 ENSG00000196967 chr19 37106734 37172741 - ZNF585A protein_coding 199704 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 52 41 42 40 47 55 37 45 18 ENSG00000196968 chr10 73772291 73780251 + FUT11 protein_coding 170384 GO:0032580, GO:0016021, Golgi cisterna membrane, integral component of membrane, GO:0046920, GO:0005515, alpha-(1->3)-fucosyltransferase activity, protein binding, GO:0036065, GO:0006486, fucosylation, protein glycosylation, 53 74 95 73 76 107 56 83 92 ENSG00000196970 chrX 102549965 102571695 + NXF4 transcribed_unprocessed_pseudogene 55999 0 0 0 0 0 0 0 0 0 ENSG00000196972 chrX 135094987 135098634 - SMIM10L2B protein_coding 644596 0 0 2 0 0 0 0 0 0 ENSG00000196975 chr2 69644425 69827100 + ANXA4 protein_coding Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]. 307 GO:0070062, GO:0062023, GO:0048471, GO:0031965, GO:0012506, GO:0009986, GO:0005886, GO:0005737, GO:0005737, GO:0005737, GO:0005634, extracellular exosome, collagen-containing extracellular matrix, perinuclear region of cytoplasm, nuclear membrane, vesicle membrane, cell surface, plasma membrane, cytoplasm, cytoplasm, cytoplasm, nucleus, GO:0051059, GO:0048306, GO:0042802, GO:0005544, GO:0005544, GO:0005515, GO:0005509, GO:0005509, GO:0004859, NF-kappaB binding, calcium-dependent protein binding, identical protein binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, calcium ion binding, phospholipase inhibitor activity, GO:0043086, GO:0043066, GO:0032717, GO:0032088, GO:0030855, GO:0007219, GO:0007165, GO:0006357, negative regulation of catalytic activity, negative regulation of apoptotic process, negative regulation of interleukin-8 production, negative regulation of NF-kappaB transcription factor activity, epithelial cell differentiation, Notch signaling pathway, signal transduction, regulation of transcription by RNA polymerase II, 93 91 133 70 105 103 70 98 76 ENSG00000196976 chrX 154477769 154479257 - LAGE3 protein_coding This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]. 8270 GO:0016604, GO:0005737, GO:0005654, GO:0005634, GO:0000408, GO:0000408, nuclear body, cytoplasm, nucleoplasm, nucleus, EKC/KEOPS complex, EKC/KEOPS complex, GO:0005515, protein binding, GO:0070525, GO:0045944, GO:0008150, GO:0008033, tRNA threonylcarbamoyladenosine metabolic process, positive regulation of transcription by RNA polymerase II, biological_process, tRNA processing, 10 7 9 37 15 45 54 28 53 ENSG00000196979 chr9 130140610 130144219 - AL360004.1 lincRNA 401554 0 0 0 0 0 0 0 1 0 ENSG00000196981 chr3 122412332 122416051 - WDR5B protein_coding This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008]. 54554 GO:0048188, Set1C/COMPASS complex, GO:0042393, histone binding, GO:0051568, histone H3-K4 methylation, 75 41 70 48 39 57 66 42 28 ENSG00000196990 chr9 133578415 133586197 - FAM163B protein_coding 642968 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000196993 chr16 28751787 28772807 + NPIPB9 protein_coding 100507607 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, 0 1 1 1 1 0 2 2 3 ENSG00000196998 chrX 49071470 49101170 - WDR45 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]. 11152 GO:0034045, GO:0019898, GO:0005829, GO:0000407, phagophore assembly site membrane, extrinsic component of membrane, cytosol, phagophore assembly site, GO:1901981, GO:0080025, GO:0032266, GO:0019901, GO:0005515, phosphatidylinositol phosphate binding, phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3-phosphate binding, protein kinase binding, protein binding, GO:0044804, GO:0034497, GO:0009267, GO:0006914, GO:0006497, GO:0000422, GO:0000045, autophagy of nucleus, protein localization to phagophore assembly site, cellular response to starvation, autophagy, protein lipidation, autophagy of mitochondrion, autophagosome assembly, 947 1210 1375 1197 1573 1274 1120 1134 1032 ENSG00000197006 chr16 21597218 21657473 + METTL9 protein_coding 51108 GO:0005515, protein binding, 1613 1078 2133 446 696 581 566 660 621 ENSG00000197008 chr7 64794388 64833681 + ZNF138 protein_coding 7697 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 18 9 46 26 6 66 14 21 47 ENSG00000197013 chr19 21496682 21556270 + ZNF429 protein_coding 353088 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 458 182 243 220 168 146 276 121 148 ENSG00000197016 chr19 56567511 56588911 + ZNF470 protein_coding 388566 GO:0016604, GO:0005654, GO:0005634, nuclear body, nucleoplasm, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 1 1 8 4 4 8 7 4 ENSG00000197019 chr19 40421592 40426025 - SERTAD1 protein_coding 29950 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0140110, GO:0005515, transcription regulator activity, protein binding, GO:0048096, GO:0045944, GO:0008284, GO:0000079, chromatin-mediated maintenance of transcription, positive regulation of transcription by RNA polymerase II, positive regulation of cell population proliferation, regulation of cyclin-dependent protein serine/threonine kinase activity, 125 279 196 1824 2738 2077 1406 1639 1371 ENSG00000197020 chr19 21722766 21767628 - ZNF100 protein_coding 163227 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 18 3 1 10 3 2 7 2 0 ENSG00000197021 chrX 149929527 149938811 - CXorf40B protein_coding 541578 190 172 197 290 234 190 330 163 219 ENSG00000197023 chr11 4889593 4890596 - OR51A6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197024 chr7 149126416 149182802 + ZNF398 protein_coding This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]. 57541 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045893, GO:0006357, GO:0006355, GO:0000122, positive regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 181 213 119 161 304 265 289 229 207 ENSG00000197037 chr7 99616946 99632407 + ZSCAN25 protein_coding This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]. 221785 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 164 174 153 128 145 166 86 106 73 ENSG00000197038 chrY 9311130 9322869 - RBMY1A3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197043 chr5 151100712 151157882 - ANXA6 protein_coding Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]. 309 GO:0070062, GO:0062023, GO:0062023, GO:0048471, GO:0042470, GO:0031902, GO:0016020, GO:0005925, GO:0005925, GO:0005765, GO:0005739, GO:0005737, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, perinuclear region of cytoplasm, melanosome, late endosome membrane, membrane, focal adhesion, focal adhesion, lysosomal membrane, mitochondrion, cytoplasm, GO:0051015, GO:0048306, GO:0042802, GO:0035374, GO:0015485, GO:0015485, GO:0015276, GO:0015276, GO:0008289, GO:0005544, GO:0005544, GO:0005525, GO:0005525, GO:0005515, GO:0005509, GO:0005262, GO:0001786, actin filament binding, calcium-dependent protein binding, identical protein binding, chondroitin sulfate binding, cholesterol binding, cholesterol binding, ligand-gated ion channel activity, ligand-gated ion channel activity, lipid binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, GTP binding, GTP binding, protein binding, calcium ion binding, calcium channel activity, phosphatidylserine binding, GO:0097190, GO:0070588, GO:0051560, GO:0051283, GO:0034220, GO:0006937, GO:0003418, GO:0001778, GO:0001755, apoptotic signaling pathway, calcium ion transmembrane transport, mitochondrial calcium ion homeostasis, negative regulation of sequestering of calcium ion, ion transmembrane transport, regulation of muscle contraction, growth plate cartilage chondrocyte differentiation, plasma membrane repair, neural crest cell migration, 269 192 413 722 280 790 669 254 589 ENSG00000197044 chr19 11767000 11784078 + ZNF441 protein_coding 126068 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 79 48 134 25 33 60 31 36 52 ENSG00000197045 chr14 54474484 54489196 - GMFB protein_coding 2764 GO:0071933, GO:0008083, GO:0008047, GO:0004860, GO:0003779, Arp2/3 complex binding, growth factor activity, enzyme activator activity, protein kinase inhibitor activity, actin binding, GO:0071846, GO:0043085, GO:0034316, GO:0007626, GO:0007612, GO:0007399, GO:0007165, GO:0006469, GO:0006468, actin filament debranching, positive regulation of catalytic activity, negative regulation of Arp2/3 complex-mediated actin nucleation, locomotory behavior, learning, nervous system development, signal transduction, negative regulation of protein kinase activity, protein phosphorylation, 302 328 407 597 577 702 732 475 454 ENSG00000197046 chr18 45825512 45844080 + SIGLEC15 protein_coding 284266 GO:0032991, GO:0016021, GO:0005886, GO:0005886, protein-containing complex, integral component of membrane, plasma membrane, plasma membrane, GO:2001204, GO:0045124, GO:0045087, GO:0032956, regulation of osteoclast development, regulation of bone resorption, innate immune response, regulation of actin cytoskeleton organization, 2 2 1 3 3 0 7 5 7 ENSG00000197050 chr19 37007857 37130314 + ZNF420 protein_coding The protein encoded by this gene is a KRAB-type zinc finger protein that negatively-regulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis. [provided by RefSeq, Jul 2016]. 147923 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0042981, GO:0006357, regulation of apoptotic process, regulation of transcription by RNA polymerase II, 6 6 6 44 14 32 19 9 27 ENSG00000197054 chr19 11965037 11980381 + ZNF763 protein_coding 284390 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 23 39 47 41 39 44 30 29 30 ENSG00000197056 chr1 35032172 35115859 + ZMYM1 protein_coding 79830 GO:0005634, nucleus, GO:0046983, GO:0008270, protein dimerization activity, zinc ion binding, 27 18 32 33 26 35 28 23 36 ENSG00000197057 chr4 36281622 36345756 + DTHD1 protein_coding This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. 401124 GO:0007165, signal transduction, 8 16 51 24 17 72 35 7 41 ENSG00000197061 chr6 26103876 26104310 + HIST1H4C protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8364 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 3 11 6 4 25 33 10 11 10 ENSG00000197062 chr6 28267010 28278224 + ZSCAN26 protein_coding 7741 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 37 56 45 49 53 68 41 54 46 ENSG00000197063 chr17 81918270 81927714 - MAFG protein_coding Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010]. 4097 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:1990837, GO:0046982, GO:0005515, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein heterodimerization activity, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045604, GO:0042127, GO:0030641, GO:0030534, GO:0007596, GO:0006357, GO:0001701, positive regulation of transcription by RNA polymerase II, regulation of epidermal cell differentiation, regulation of cell population proliferation, regulation of cellular pH, adult behavior, blood coagulation, regulation of transcription by RNA polymerase II, in utero embryonic development, 576 672 805 5868 5979 7212 5809 3947 4446 ENSG00000197067 chr1 248083522 248087522 - OR2T32P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197070 chr9 137605654 137615360 + ARRDC1 protein_coding 92714 GO:1903561, GO:0070062, GO:0070062, GO:0031410, GO:0005886, GO:0005737, extracellular vesicle, extracellular exosome, extracellular exosome, cytoplasmic vesicle, plasma membrane, cytoplasm, GO:1990763, GO:1990756, GO:1990756, GO:0042802, GO:0031625, GO:0031625, GO:0005515, arrestin family protein binding, ubiquitin ligase-substrate adaptor activity, ubiquitin ligase-substrate adaptor activity, identical protein binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, GO:0140112, GO:0045746, GO:0016567, GO:0015031, GO:0015031, GO:0006858, GO:0006511, GO:0006511, extracellular vesicle biogenesis, negative regulation of Notch signaling pathway, protein ubiquitination, protein transport, protein transport, extracellular transport, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, 428 684 528 533 996 624 491 669 531 ENSG00000197077 chr22 24952730 25197448 + KIAA1671 protein_coding 85379 4 7 19 13 5 46 19 11 29 ENSG00000197079 chr17 41476689 41481140 - KRT35 protein_coding The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. 3886 GO:0070062, GO:0005882, GO:0005829, GO:0005615, extracellular exosome, intermediate filament, cytosol, extracellular space, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, GO:0009653, cornification, keratinization, anatomical structure morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000197081 chr6 159969099 160113507 + IGF2R protein_coding This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]. 3482 GO:0070062, GO:0048471, GO:0032588, GO:0030667, GO:0030665, GO:0030140, GO:0030139, GO:0030133, GO:0030118, GO:0016020, GO:0010008, GO:0009986, GO:0005925, GO:0005887, GO:0005886, GO:0005886, GO:0005802, GO:0005802, GO:0005794, GO:0005770, GO:0005770, GO:0005769, GO:0005768, GO:0005641, extracellular exosome, perinuclear region of cytoplasm, trans-Golgi network membrane, secretory granule membrane, clathrin-coated vesicle membrane, trans-Golgi network transport vesicle, endocytic vesicle, transport vesicle, clathrin coat, membrane, endosome membrane, cell surface, focal adhesion, integral component of plasma membrane, plasma membrane, plasma membrane, trans-Golgi network, trans-Golgi network, Golgi apparatus, late endosome, late endosome, early endosome, endosome, nuclear envelope lumen, GO:1905394, GO:0051219, GO:0042802, GO:0038023, GO:0031995, GO:0019899, GO:0005537, GO:0005520, GO:0005515, GO:0005515, GO:0005010, GO:0001972, GO:0001965, retromer complex binding, phosphoprotein binding, identical protein binding, signaling receptor activity, insulin-like growth factor II binding, enzyme binding, mannose binding, insulin-like growth factor binding, protein binding, protein binding, insulin-like growth factor-activated receptor activity, retinoic acid binding, G-protein alpha-subunit binding, GO:1904772, GO:0061024, GO:0048009, GO:0044794, GO:0043312, GO:0043065, GO:0032526, GO:0031100, GO:0009791, GO:0007283, GO:0007186, GO:0007165, GO:0007041, GO:0006898, GO:0001889, response to tetrachloromethane, membrane organization, insulin-like growth factor receptor signaling pathway, positive regulation by host of viral process, neutrophil degranulation, positive regulation of apoptotic process, response to retinoic acid, animal organ regeneration, post-embryonic development, spermatogenesis, G protein-coupled receptor signaling pathway, signal transduction, lysosomal transport, receptor-mediated endocytosis, liver development, 21128 26431 31349 7574 14602 12526 9403 12476 10481 ENSG00000197083 chr5 150930645 150946289 - ZNF300P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 1 1 0 0 ENSG00000197084 chr1 152804835 152806628 - LCE1C protein_coding 353133 GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000197085 chr7 34346512 34871582 - NPSR1-AS1 processed_transcript This gene is located within a region that has been associated with asthma susceptibility. The locus is considered non-protein-coding based on lack of protein homology and a lack of experimental support for an encoded protein. Three alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2010]. 404744 0 0 0 0 0 0 0 0 0 ENSG00000197092 chrY 25495651 25501958 - GOLGA6L16P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197093 chr7 100159244 100168750 - GAL3ST4 protein_coding This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]. 79690 GO:0070062, GO:0032580, GO:0016021, GO:0016020, extracellular exosome, Golgi cisterna membrane, integral component of membrane, membrane, GO:0050698, GO:0050694, GO:0050694, GO:0050656, GO:0008146, GO:0001733, proteoglycan sulfotransferase activity, galactose 3-O-sulfotransferase activity, galactose 3-O-sulfotransferase activity, 3'-phosphoadenosine 5'-phosphosulfate binding, sulfotransferase activity, galactosylceramide sulfotransferase activity, GO:0030166, GO:0009311, GO:0009247, GO:0009101, GO:0009100, GO:0007267, GO:0006790, proteoglycan biosynthetic process, oligosaccharide metabolic process, glycolipid biosynthetic process, glycoprotein biosynthetic process, glycoprotein metabolic process, cell-cell signaling, sulfur compound metabolic process, 61 63 77 101 125 108 104 72 114 ENSG00000197099 chr3 186579476 186772986 - AC068631.1 antisense 38 61 40 59 97 129 97 50 154 ENSG00000197102 chr14 101964510 102056443 + DYNC1H1 protein_coding Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]. 1778 GO:1904115, GO:0070062, GO:0035578, GO:0030286, GO:0030175, GO:0016020, GO:0005938, GO:0005881, GO:0005874, GO:0005868, GO:0005868, GO:0005868, GO:0005829, GO:0005813, GO:0005576, axon cytoplasm, extracellular exosome, azurophil granule lumen, dynein complex, filopodium, membrane, cell cortex, cytoplasmic microtubule, microtubule, cytoplasmic dynein complex, cytoplasmic dynein complex, cytoplasmic dynein complex, cytosol, centrosome, extracellular region, GO:0051959, GO:0051959, GO:0045505, GO:0008569, GO:0005524, GO:0005515, GO:0003723, dynein light intermediate chain binding, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, protein binding, RNA binding, GO:1905832, GO:0120162, GO:0097711, GO:0090235, GO:0072382, GO:0060236, GO:0051301, GO:0051293, GO:0051293, GO:0043312, GO:0034063, GO:0033962, GO:0032388, GO:0031122, GO:0019886, GO:0010389, GO:0008090, GO:0007097, GO:0007052, GO:0007018, GO:0006888, GO:0000278, GO:0000086, positive regulation of spindle assembly, positive regulation of cold-induced thermogenesis, ciliary basal body-plasma membrane docking, regulation of metaphase plate congression, minus-end-directed vesicle transport along microtubule, regulation of mitotic spindle organization, cell division, establishment of spindle localization, establishment of spindle localization, neutrophil degranulation, stress granule assembly, P-body assembly, positive regulation of intracellular transport, cytoplasmic microtubule organization, antigen processing and presentation of exogenous peptide antigen via MHC class II, regulation of G2/M transition of mitotic cell cycle, retrograde axonal transport, nuclear migration, mitotic spindle organization, microtubule-based movement, endoplasmic reticulum to Golgi vesicle-mediated transport, mitotic cell cycle, G2/M transition of mitotic cell cycle, 1070 1331 1712 974 878 1197 959 657 1000 ENSG00000197106 chr1 110150486 110202202 + SLC6A17 protein_coding The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]. 388662 GO:0098794, GO:0042995, GO:0030672, GO:0008021, GO:0008021, GO:0005887, postsynapse, cell projection, synaptic vesicle membrane, synaptic vesicle, synaptic vesicle, integral component of plasma membrane, GO:0015293, GO:0005515, symporter activity, protein binding, GO:0150104, GO:0035725, GO:0032328, GO:0032328, GO:0015824, GO:0015824, GO:0015820, GO:0015820, GO:0015816, GO:0015816, GO:0015804, GO:0007420, GO:0006836, transport across blood-brain barrier, sodium ion transmembrane transport, alanine transport, alanine transport, proline transport, proline transport, leucine transport, leucine transport, glycine transport, glycine transport, neutral amino acid transport, brain development, neurotransmitter transport, 0 0 0 0 1 0 0 0 0 ENSG00000197110 chr19 39243553 39245129 - IFNL3 protein_coding This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]. 282617 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005125, GO:0005102, cytokine activity, signaling receptor binding, GO:0051607, GO:0051607, GO:0050778, GO:0045087, GO:0045071, GO:0019221, GO:0007259, defense response to virus, defense response to virus, positive regulation of immune response, innate immune response, negative regulation of viral genome replication, cytokine-mediated signaling pathway, receptor signaling pathway via JAK-STAT, 0 0 0 0 0 0 0 0 0 ENSG00000197111 chr12 53452102 53481162 + PCBP2 protein_coding The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. This gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2018]. 5094 GO:0070062, GO:0016020, GO:0005925, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, membrane, focal adhesion, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:1990829, GO:0031625, GO:0019899, GO:0005515, GO:0003729, GO:0003723, GO:0003723, GO:0003697, C-rich single-stranded DNA binding, ubiquitin protein ligase binding, enzyme binding, protein binding, mRNA binding, RNA binding, RNA binding, single-stranded DNA binding, GO:0075522, GO:0051607, GO:0051252, GO:0050687, GO:0045087, GO:0043161, GO:0039694, GO:0032480, GO:0016071, GO:0016070, GO:0010468, GO:0000398, IRES-dependent viral translational initiation, defense response to virus, regulation of RNA metabolic process, negative regulation of defense response to virus, innate immune response, proteasome-mediated ubiquitin-dependent protein catabolic process, viral RNA genome replication, negative regulation of type I interferon production, mRNA metabolic process, RNA metabolic process, regulation of gene expression, mRNA splicing, via spliceosome, 1837 1932 2486 1247 1976 1828 1358 1798 1534 ENSG00000197114 chr20 63707465 63736142 + ZGPAT protein_coding 84619 GO:0005886, GO:0005654, GO:0005634, GO:0005634, GO:0000785, plasma membrane, nucleoplasm, nucleus, nucleus, chromatin, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0007175, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of epidermal growth factor-activated receptor activity, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 82 79 68 76 101 85 70 84 87 ENSG00000197119 chr14 100291111 100306547 - SLC25A29 protein_coding This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]. 123096 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0015227, GO:0015174, GO:0015174, GO:0005347, GO:0005292, GO:0005289, acyl carnitine transmembrane transporter activity, basic amino acid transmembrane transporter activity, basic amino acid transmembrane transporter activity, ATP transmembrane transporter activity, high-affinity lysine transmembrane transporter activity, high-affinity arginine transmembrane transporter activity, GO:1990575, GO:1903401, GO:1903400, GO:1902616, GO:0089709, GO:0015879, GO:0015867, GO:0015822, GO:0006865, GO:0006865, GO:0006844, mitochondrial L-ornithine transmembrane transport, L-lysine transmembrane transport, L-arginine transmembrane transport, acyl carnitine transmembrane transport, L-histidine transmembrane transport, carnitine transport, ATP transport, ornithine transport, amino acid transport, amino acid transport, acyl carnitine transport, 238 851 273 204 915 195 231 696 159 ENSG00000197121 chr2 196833004 196927796 - PGAP1 protein_coding The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]. 80055 GO:0016021, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0050185, GO:0050185, GO:0042578, GO:0016788, GO:0004518, phosphatidylinositol deacylase activity, phosphatidylinositol deacylase activity, phosphoric ester hydrolase activity, hydrolase activity, acting on ester bonds, nuclease activity, GO:1902953, GO:0090305, GO:0021871, GO:0016255, GO:0015798, GO:0015031, GO:0009948, GO:0009880, GO:0007605, GO:0006888, GO:0006505, positive regulation of ER to Golgi vesicle-mediated transport, nucleic acid phosphodiester bond hydrolysis, forebrain regionalization, attachment of GPI anchor to protein, myo-inositol transport, protein transport, anterior/posterior axis specification, embryonic pattern specification, sensory perception of sound, endoplasmic reticulum to Golgi vesicle-mediated transport, GPI anchor metabolic process, 30 35 30 60 27 46 52 21 22 ENSG00000197122 chr20 37344685 37406050 + SRC protein_coding This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6714 GO:0099091, GO:0098978, GO:0070062, GO:0048471, GO:0045121, GO:0043005, GO:0032587, GO:0031234, GO:0030054, GO:0014069, GO:0005925, GO:0005901, GO:0005886, GO:0005886, GO:0005884, GO:0005829, GO:0005829, GO:0005770, GO:0005764, GO:0005743, GO:0005739, GO:0005737, GO:0005634, GO:0002102, postsynaptic specialization, intracellular component, glutamatergic synapse, extracellular exosome, perinuclear region of cytoplasm, membrane raft, neuron projection, ruffle membrane, extrinsic component of cytoplasmic side of plasma membrane, cell junction, postsynaptic density, focal adhesion, caveola, plasma membrane, plasma membrane, actin filament, cytosol, cytosol, late endosome, lysosome, mitochondrial inner membrane, mitochondrion, cytoplasm, nucleus, podosome, GO:0097110, GO:0071253, GO:0070851, GO:0070851, GO:0070700, GO:0051219, GO:0051117, GO:0046875, GO:0045296, GO:0044325, GO:0042169, GO:0031625, GO:0030331, GO:0020037, GO:0019900, GO:0019899, GO:0016301, GO:0008022, GO:0005524, GO:0005515, GO:0005178, GO:0005178, GO:0005158, GO:0005102, GO:0005102, GO:0005080, GO:0004715, GO:0004715, GO:0004715, GO:0004713, GO:0004713, GO:0004713, GO:0004713, GO:0004713, GO:0004672, GO:0004672, scaffold protein binding, connexin binding, growth factor receptor binding, growth factor receptor binding, BMP receptor binding, phosphoprotein binding, ATPase binding, ephrin receptor binding, cadherin binding, ion channel binding, SH2 domain binding, ubiquitin protein ligase binding, estrogen receptor binding, heme binding, kinase binding, enzyme binding, kinase activity, protein C-terminus binding, ATP binding, protein binding, integrin binding, integrin binding, insulin receptor binding, signaling receptor binding, signaling receptor binding, protein kinase C binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, protein kinase activity, GO:2001286, GO:2001243, GO:2001243, GO:2001237, GO:2001237, GO:2000811, GO:2000641, GO:2000588, GO:2000573, GO:2000394, GO:2000386, GO:1903997, GO:1900182, GO:0098609, GO:0090263, GO:0086098, GO:0071902, GO:0071803, GO:0071498, GO:0071456, GO:0071398, GO:0071393, GO:0071375, GO:0071222, GO:0070555, GO:0070374, GO:0070301, GO:0070102, GO:0060576, GO:0060491, GO:0060444, GO:0060065, GO:0051974, GO:0051902, GO:0051897, GO:0051897, GO:0051895, GO:0051602, GO:0051385, GO:0051057, GO:0050900, GO:0050847, GO:0050847, GO:0050731, GO:0050731, GO:0048477, GO:0048041, GO:0048013, GO:0048011, GO:0048010, GO:0046777, GO:0046628, GO:0045893, GO:0045892, GO:0045747, GO:0045737, GO:0045453, GO:0045453, GO:0045124, GO:0045087, GO:0045056, GO:0043552, GO:0043406, GO:0043393, GO:0043154, GO:0043149, GO:0043114, GO:0043066, GO:0043065, GO:0042493, GO:0042476, GO:0042127, GO:0038128, GO:0038096, GO:0038083, GO:0036120, GO:0036035, GO:0035635, GO:0035556, GO:0035306, GO:0034446, GO:0034332, GO:0033625, GO:0033146, GO:0032869, GO:0032211, GO:0032148, GO:0031954, GO:0031667, GO:0031648, GO:0031333, GO:0031295, GO:0030900, GO:0030168, GO:0030154, GO:0022407, GO:0018108, GO:0018108, GO:0018108, GO:0018105, GO:0016236, GO:0016032, GO:0014911, GO:0014068, GO:0010954, GO:0010907, GO:0010634, GO:0010632, GO:0010447, GO:0009615, GO:0009612, GO:0008283, GO:0007411, GO:0007229, GO:0007186, GO:0007179, GO:0007173, GO:0007173, GO:0007172, GO:0007169, GO:0007165, GO:0007155, GO:0007049, GO:0002223, GO:0001819, GO:0001545, regulation of caveolin-mediated endocytosis, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway, negative regulation of anoikis, regulation of early endosome to late endosome transport, positive regulation of platelet-derived growth factor receptor-beta signaling pathway, positive regulation of DNA biosynthetic process, positive regulation of lamellipodium morphogenesis, positive regulation of ovarian follicle development, positive regulation of non-membrane spanning protein tyrosine kinase activity, positive regulation of protein localization to nucleus, cell-cell adhesion, positive regulation of canonical Wnt signaling pathway, angiotensin-activated signaling pathway involved in heart process, positive regulation of protein serine/threonine kinase activity, positive regulation of podosome assembly, cellular response to fluid shear stress, cellular response to hypoxia, cellular response to fatty acid, cellular response to progesterone stimulus, cellular response to peptide hormone stimulus, cellular response to lipopolysaccharide, response to interleukin-1, positive regulation of ERK1 and ERK2 cascade, cellular response to hydrogen peroxide, interleukin-6-mediated signaling pathway, intestinal epithelial cell development, regulation of cell projection assembly, branching involved in mammary gland duct morphogenesis, uterus development, negative regulation of telomerase activity, negative regulation of mitochondrial depolarization, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, negative regulation of focal adhesion assembly, response to electrical stimulus, response to mineralocorticoid, positive regulation of small GTPase mediated signal transduction, leukocyte migration, progesterone receptor signaling pathway, progesterone receptor signaling pathway, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of peptidyl-tyrosine phosphorylation, oogenesis, focal adhesion assembly, ephrin receptor signaling pathway, neurotrophin TRK receptor signaling pathway, vascular endothelial growth factor receptor signaling pathway, protein autophosphorylation, positive regulation of insulin receptor signaling pathway, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, positive regulation of cyclin-dependent protein serine/threonine kinase activity, bone resorption, bone resorption, regulation of bone resorption, innate immune response, transcytosis, positive regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAP kinase activity, regulation of protein binding, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, stress fiber assembly, regulation of vascular permeability, negative regulation of apoptotic process, positive regulation of apoptotic process, response to drug, odontogenesis, regulation of cell population proliferation, ERBB2 signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, peptidyl-tyrosine autophosphorylation, cellular response to platelet-derived growth factor stimulus, osteoclast development, entry of bacterium into host cell, intracellular signal transduction, positive regulation of dephosphorylation, substrate adhesion-dependent cell spreading, adherens junction organization, positive regulation of integrin activation, regulation of intracellular estrogen receptor signaling pathway, cellular response to insulin stimulus, negative regulation of telomere maintenance via telomerase, activation of protein kinase B activity, positive regulation of protein autophosphorylation, response to nutrient levels, protein destabilization, negative regulation of protein-containing complex assembly, T cell costimulation, forebrain development, platelet activation, cell differentiation, regulation of cell-cell adhesion, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, peptidyl-tyrosine phosphorylation, peptidyl-serine phosphorylation, macroautophagy, viral process, positive regulation of smooth muscle cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of protein processing, positive regulation of glucose metabolic process, positive regulation of epithelial cell migration, regulation of epithelial cell migration, response to acidic pH, response to virus, response to mechanical stimulus, cell population proliferation, axon guidance, integrin-mediated signaling pathway, G protein-coupled receptor signaling pathway, transforming growth factor beta receptor signaling pathway, epidermal growth factor receptor signaling pathway, epidermal growth factor receptor signaling pathway, signal complex assembly, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, cell adhesion, cell cycle, stimulatory C-type lectin receptor signaling pathway, positive regulation of cytokine production, primary ovarian follicle growth, 45 58 58 40 57 29 21 44 14 ENSG00000197123 chr7 64228474 64266931 + ZNF679 protein_coding 168417 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000197124 chr19 19997058 20039506 - ZNF682 protein_coding 91120 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 4 2 3 8 3 20 9 5 8 ENSG00000197125 chr11 124437445 124445696 - OR8B8 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26493 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197128 chr19 57466663 57477570 - ZNF772 protein_coding 400720 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 9 3 1 3 0 7 3 1 ENSG00000197134 chr19 22052452 22091480 + ZNF257 protein_coding 113835 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 12 4 8 9 4 13 21 7 16 ENSG00000197136 chr11 65615773 65637439 + PCNX3 protein_coding 399909 GO:0016021, integral component of membrane, 948 1065 1433 798 924 1020 920 719 954 ENSG00000197140 chr8 39106990 39284911 + ADAM32 protein_coding This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. This gene is predominantly expressed in the testis. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. 203102 GO:0016021, integral component of membrane, GO:0005515, GO:0004222, protein binding, metalloendopeptidase activity, GO:0007339, GO:0007155, GO:0006508, binding of sperm to zona pellucida, cell adhesion, proteolysis, 0 0 0 3 1 5 1 0 0 ENSG00000197142 chr10 112374018 112428380 + ACSL5 protein_coding The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 51703 GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005789, GO:0005783, GO:0005783, GO:0005741, GO:0005739, GO:0005739, GO:0005730, GO:0005654, integral component of membrane, membrane, membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, mitochondrial outer membrane, mitochondrion, mitochondrion, nucleolus, nucleoplasm, GO:0102391, GO:0047676, GO:0047676, GO:0005524, GO:0005515, GO:0004467, GO:0004467, GO:0004467, GO:0003996, decanoate-CoA ligase activity, arachidonate-CoA ligase activity, arachidonate-CoA ligase activity, ATP binding, protein binding, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, long-chain fatty acid-CoA ligase activity, acyl-CoA ligase activity, GO:0035338, GO:0035338, GO:0010747, GO:0008610, GO:0001676, GO:0001676, GO:0001676, long-chain fatty-acyl-CoA biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, positive regulation of long-chain fatty acid import across plasma membrane, lipid biosynthetic process, long-chain fatty acid metabolic process, long-chain fatty acid metabolic process, long-chain fatty acid metabolic process, 230 257 434 233 190 265 236 131 297 ENSG00000197147 chr1 89524836 89597864 + LRRC8B protein_coding 23507 GO:0034702, GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0005737, ion channel complex, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, cytoplasm, GO:0005515, GO:0005225, protein binding, volume-sensitive anion channel activity, GO:0098656, GO:0055085, GO:0015698, anion transmembrane transport, transmembrane transport, inorganic anion transport, 90 184 220 109 155 124 107 88 90 ENSG00000197149 chr11 17228279 17229151 + AC107956.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197150 chr7 151028422 151047782 + ABCB8 protein_coding This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 11194 GO:0062157, GO:0043190, GO:0031966, GO:0016021, GO:0005743, GO:0005739, GO:0005730, GO:0005654, mitochondrial ATP-gated potassium channel complex, ATP-binding cassette (ABC) transporter complex, mitochondrial membrane, integral component of membrane, mitochondrial inner membrane, mitochondrion, nucleolus, nucleoplasm, GO:0042626, GO:0016887, GO:0005524, GO:0005515, ATPase-coupled transmembrane transporter activity, ATPase activity, ATP binding, protein binding, GO:0071805, GO:0055085, potassium ion transmembrane transport, transmembrane transport, 39 25 54 38 48 58 37 23 53 ENSG00000197153 chr6 27890382 27893106 - HIST1H3J protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8356 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nuclear chromosome, GO:0046982, GO:0045296, GO:0005515, GO:0003677, protein heterodimerization activity, cadherin binding, protein binding, DNA binding, GO:0060968, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0032200, GO:0007596, GO:0006335, GO:0006334, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, telomere organization, blood coagulation, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 0 0 0 0 0 0 0 0 0 ENSG00000197157 chr7 127652180 128092609 + SND1 protein_coding This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]. 27044 GO:0097433, GO:0070062, GO:0042470, GO:0016442, GO:0016020, GO:0005829, GO:0005829, GO:0005737, GO:0005634, dense body, extracellular exosome, melanosome, RISC complex, membrane, cytosol, cytosol, cytoplasm, nucleus, GO:1905172, GO:0045296, GO:0005515, GO:0004521, GO:0004519, GO:0004518, GO:0003723, GO:0003723, GO:0003723, GO:0003712, RISC complex binding, cadherin binding, protein binding, endoribonuclease activity, endonuclease activity, nuclease activity, RNA binding, RNA binding, RNA binding, transcription coregulator activity, GO:1903506, GO:0090502, GO:0031047, GO:0016032, GO:0010587, GO:0010564, GO:0006401, GO:0001649, regulation of nucleic acid-templated transcription, RNA phosphodiester bond hydrolysis, endonucleolytic, gene silencing by RNA, viral process, miRNA catabolic process, regulation of cell cycle process, RNA catabolic process, osteoblast differentiation, 127 104 168 228 154 268 217 119 215 ENSG00000197161 chr11 48345351 48352447 - OR4C4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197162 chr16 30573740 30585771 - ZNF785 protein_coding 146540 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 10 12 8 15 16 16 30 13 15 ENSG00000197165 chr16 28591943 28597109 - SULT1A2 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]. 6799 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0047894, GO:0008146, GO:0008146, GO:0005515, GO:0004062, GO:0004062, flavonol 3-sulfotransferase activity, sulfotransferase activity, sulfotransferase activity, protein binding, aryl sulfotransferase activity, aryl sulfotransferase activity, GO:0051923, GO:0051923, GO:0050427, GO:0050427, GO:0018958, GO:0009309, GO:0008202, GO:0006805, GO:0006584, GO:0006068, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, phenol-containing compound metabolic process, amine biosynthetic process, steroid metabolic process, xenobiotic metabolic process, catecholamine metabolic process, ethanol catabolic process, 31 64 92 18 103 63 27 55 43 ENSG00000197168 chr13 52033611 52129078 - NEK5 protein_coding 341676 GO:0106311, GO:0106310, GO:0046872, GO:0005524, protein threonine kinase activity, protein serine kinase activity, metal ion binding, ATP binding, GO:2001056, GO:0051155, GO:0006468, positive regulation of cysteine-type endopeptidase activity, positive regulation of striated muscle cell differentiation, protein phosphorylation, 16 8 6 10 11 5 6 7 5 ENSG00000197170 chr17 67337916 67366627 - PSMD12 protein_coding The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5718 GO:1904813, GO:0070062, GO:0034774, GO:0031595, GO:0022624, GO:0016020, GO:0008541, GO:0005838, GO:0005829, GO:0005737, GO:0005654, GO:0005576, GO:0000502, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, nuclear proteasome complex, proteasome accessory complex, membrane, proteasome regulatory particle, lid subcomplex, proteasome regulatory particle, cytosol, cytoplasm, nucleoplasm, extracellular region, proteasome complex, GO:0005515, protein binding, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043312, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, neutrophil degranulation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 239 183 244 225 285 236 183 190 164 ENSG00000197171 chr6 29223973 29292963 + AL672167.1 transcribed_unprocessed_pseudogene 101929006 0 0 0 0 0 0 0 0 0 ENSG00000197172 chrX 152766136 152769747 - MAGEA6 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 4105 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000197176 chr14 97632647 97686658 - LINC02291 lincRNA 100129345 0 1 1 1 0 0 0 0 0 ENSG00000197177 chr10 133070929 133131675 + ADGRA1 protein_coding This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]. 84435 GO:0098978, GO:0016021, GO:0014069, GO:0005886, glutamatergic synapse, integral component of membrane, postsynaptic density, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, GO:0007166, GO:0007165, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000197180 chrX 154424380 154428479 - CH17-340M24.3 lincRNA 158960 2 1 5 3 0 3 7 5 4 ENSG00000197181 chr8 22275297 22357563 + PIWIL2 protein_coding PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]. 55124 GO:1990923, GO:0097433, GO:0071546, GO:0043186, GO:0033391, GO:0010370, GO:0005737, GO:0005737, GO:0005634, PET complex, dense body, pi-body, P granule, chromatoid body, perinucleolar chromocenter, cytoplasm, cytoplasm, nucleus, GO:1905538, GO:0046872, GO:0034584, GO:0034584, GO:0005515, GO:0004521, GO:0003729, polysome binding, metal ion binding, piRNA binding, piRNA binding, protein binding, endoribonuclease activity, mRNA binding, GO:2000617, GO:1990511, GO:0090502, GO:0071442, GO:0060903, GO:0051321, GO:0048511, GO:0048477, GO:0045727, GO:0043046, GO:0042754, GO:0034587, GO:0031047, GO:0030718, GO:0010529, GO:0007283, GO:0007275, GO:0000966, positive regulation of histone H3-K9 acetylation, piRNA biosynthetic process, RNA phosphodiester bond hydrolysis, endonucleolytic, positive regulation of histone H3-K14 acetylation, positive regulation of meiosis I, meiotic cell cycle, rhythmic process, oogenesis, positive regulation of translation, DNA methylation involved in gamete generation, negative regulation of circadian rhythm, piRNA metabolic process, gene silencing by RNA, germ-line stem cell population maintenance, negative regulation of transposition, spermatogenesis, multicellular organism development, RNA 5'-end processing, 1 0 0 3 0 0 0 0 0 ENSG00000197182 chr22 46053869 46113928 + MIRLET7BHG lincRNA 400931 GO:0035195, gene silencing by miRNA, 83 109 65 51 99 45 88 89 21 ENSG00000197183 chr20 32443059 32585074 - NOL4L protein_coding 140688 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0005515, protein binding, 905 773 1155 627 659 631 733 485 573 ENSG00000197185 chrX 52606535 52611758 - SSXP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197191 chr9 137224635 137226311 + CYSRT1 protein_coding 375791 GO:0070062, extracellular exosome, GO:0042802, GO:0005515, identical protein binding, protein binding, 0 0 0 2 0 0 0 0 0 ENSG00000197208 chr5 132294443 132344206 + SLC22A4 protein_coding Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]. 6583 GO:0016324, GO:0005887, GO:0005886, GO:0005886, GO:0005739, apical plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, mitochondrion, GO:0030165, GO:0015651, GO:0015651, GO:0015491, GO:0015293, GO:0015226, GO:0015171, GO:0008513, GO:0005524, GO:0005515, GO:0000166, PDZ domain binding, quaternary ammonium group transmembrane transporter activity, quaternary ammonium group transmembrane transporter activity, cation:cation antiporter activity, symporter activity, carnitine transmembrane transporter activity, amino acid transmembrane transporter activity, secondary active organic cation transmembrane transporter activity, ATP binding, protein binding, nucleotide binding, GO:1902603, GO:0089718, GO:0042908, GO:0015879, GO:0015697, GO:0015697, GO:0015695, GO:0007589, GO:0006814, carnitine transmembrane transport, amino acid import across plasma membrane, xenobiotic transport, carnitine transport, quaternary ammonium group transport, quaternary ammonium group transport, organic cation transport, body fluid secretion, sodium ion transport, 873 645 1050 332 522 566 460 419 437 ENSG00000197210 chr22 21114607 21124451 - AP000550.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000197213 chr19 56189570 56197920 - ZSCAN5B protein_coding 342933 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000197214 chr9 97067749 97068628 + TCEA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197217 chr8 23385783 23457695 - ENTPD4 protein_coding This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011]. 9583 GO:0097637, GO:0031410, GO:0030173, GO:0016020, GO:0005794, GO:0000139, integral component of autophagosome membrane, cytoplasmic vesicle, integral component of Golgi membrane, membrane, Golgi apparatus, Golgi membrane, GO:0045134, GO:0045134, GO:0017110, GO:0004382, uridine-diphosphatase activity, uridine-diphosphatase activity, nucleoside-diphosphatase activity, guanosine-diphosphatase activity, GO:0034656, GO:0009134, GO:0006256, GO:0006256, nucleobase-containing small molecule catabolic process, nucleoside diphosphate catabolic process, UDP catabolic process, UDP catabolic process, 1748 1684 2355 966 1293 1410 1245 1020 1091 ENSG00000197223 chr2 68041130 68110948 - C1D protein_coding The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]. 10438 GO:0017053, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000178, GO:0000176, transcription repressor complex, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, exosome (RNase complex), nuclear exosome (RNase complex), GO:0016922, GO:0005515, GO:0003723, GO:0003723, GO:0003714, GO:0003677, nuclear receptor binding, protein binding, RNA binding, RNA binding, transcription corepressor activity, DNA binding, GO:0045892, GO:0010468, GO:0006915, GO:0006364, GO:0000460, GO:0000460, negative regulation of transcription, DNA-templated, regulation of gene expression, apoptotic process, rRNA processing, maturation of 5.8S rRNA, maturation of 5.8S rRNA, 334 261 334 112 195 158 112 162 100 ENSG00000197226 chr5 179862066 179907859 - TBC1D9B protein_coding 23061 GO:0016021, integral component of membrane, GO:0031267, GO:0005515, GO:0005509, GO:0005096, small GTPase binding, protein binding, calcium ion binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0006886, regulation of cilium assembly, activation of GTPase activity, intracellular protein transport, 150 167 220 185 158 247 157 106 159 ENSG00000197233 chr9 122510802 122511743 + OR1J2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26740 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197238 chr6 27824108 27824480 + HIST1H4J protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8363 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 0 0 0 0 1 1 1 0 0 ENSG00000197241 chr1 9003300 9026345 - SLC2A7 protein_coding SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]. 155184 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005355, GO:0005353, glucose transmembrane transporter activity, fructose transmembrane transporter activity, GO:1904659, GO:0015755, GO:0008645, glucose transmembrane transport, fructose transmembrane transport, hexose transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000197245 chr1 26159020 26163962 + FAM110D protein_coding 79927 0 0 0 0 0 0 0 0 0 ENSG00000197249 chr14 94376747 94390693 - SERPINA1 protein_coding The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]. 5265 GO:1904813, GO:0070062, GO:0062023, GO:0043231, GO:0033116, GO:0031093, GO:0030134, GO:0005794, GO:0005788, GO:0005783, GO:0005615, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0000139, ficolin-1-rich granule lumen, extracellular exosome, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, endoplasmic reticulum-Golgi intermediate compartment membrane, platelet alpha granule lumen, COPII-coated ER to Golgi transport vesicle, Golgi apparatus, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular space, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, Golgi membrane, GO:0042802, GO:0005515, GO:0004867, GO:0004867, GO:0004867, GO:0002020, identical protein binding, protein binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, GO:0048208, GO:0044267, GO:0043687, GO:0043312, GO:0010951, GO:0007596, GO:0006953, GO:0006888, GO:0002576, COPII vesicle coating, cellular protein metabolic process, post-translational protein modification, neutrophil degranulation, negative regulation of endopeptidase activity, blood coagulation, acute-phase response, endoplasmic reticulum to Golgi vesicle-mediated transport, platelet degranulation, 9114 6148 9839 1049 3643 1651 2926 4049 2279 ENSG00000197251 chr6 33586106 33593338 - LINC00336 lincRNA 401253 0 0 0 0 0 1 0 0 0 ENSG00000197253 chr16 1227272 1230184 - TPSB2 protein_coding Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]. 64499 GO:0062023, GO:0005615, collagen-containing extracellular matrix, extracellular space, GO:0008236, GO:0005515, GO:0004252, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 1 0 2 0 2 ENSG00000197254 chr11 58685086 58691861 + AP000445.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197256 chr19 11164267 11197791 - KANK2 protein_coding This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]. 25959 GO:0005739, GO:0005737, GO:0005737, mitochondrion, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:2000134, GO:2000134, GO:0090521, GO:0072073, GO:0070563, GO:0070563, GO:0043069, GO:0035023, GO:0033147, GO:0033147, GO:0008285, GO:0008285, GO:0006915, GO:0000122, GO:0000122, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of G1/S transition of mitotic cell cycle, glomerular visceral epithelial cell migration, kidney epithelium development, negative regulation of vitamin D receptor signaling pathway, negative regulation of vitamin D receptor signaling pathway, negative regulation of programmed cell death, regulation of Rho protein signal transduction, negative regulation of intracellular estrogen receptor signaling pathway, negative regulation of intracellular estrogen receptor signaling pathway, negative regulation of cell population proliferation, negative regulation of cell population proliferation, apoptotic process, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 0 2 2 1 1 0 1 0 ENSG00000197258 chr7 104667749 104669576 + EIF4BP6 processed_pseudogene 19 16 99 17 2 112 10 16 54 ENSG00000197261 chr6 49550646 49561907 + C6orf141 protein_coding 135398 GO:0005515, protein binding, GO:0001835, blastocyst hatching, 0 0 0 0 0 0 0 0 0 ENSG00000197265 chr8 30578318 30658251 - GTF2E2 protein_coding The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]. 2961 GO:0016607, GO:0005829, GO:0005673, GO:0005669, GO:0005654, GO:0005654, nuclear speck, cytosol, transcription factor TFIIE complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, GO:0016251, GO:0005515, GO:0003723, GO:0003677, RNA polymerase II general transcription initiation factor activity, protein binding, RNA binding, DNA binding, GO:0042795, GO:0006367, GO:0006367, GO:0006366, GO:0006366, snRNA transcription by RNA polymerase II, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, 135 88 139 107 171 131 105 105 125 ENSG00000197272 chr16 28499362 28512051 - IL27 protein_coding The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008]. 246778 GO:0005829, GO:0005788, GO:0005615, GO:0005615, GO:0005576, cytosol, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, GO:0045523, GO:0045523, GO:0005515, GO:0005125, GO:0005102, interleukin-27 receptor binding, interleukin-27 receptor binding, protein binding, cytokine activity, signaling receptor binding, GO:0070106, GO:0045625, GO:0045625, GO:0045087, GO:0042129, GO:0042129, GO:0032729, GO:0009617, GO:0006954, GO:0002230, interleukin-27-mediated signaling pathway, regulation of T-helper 1 cell differentiation, regulation of T-helper 1 cell differentiation, innate immune response, regulation of T cell proliferation, regulation of T cell proliferation, positive regulation of interferon-gamma production, response to bacterium, inflammatory response, positive regulation of defense response to virus by host, 51 49 49 61 51 63 51 35 54 ENSG00000197273 chr1 42162691 42164718 - GUCA2A protein_coding 2980 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0030250, GO:0030250, GO:0005515, GO:0005179, guanylate cyclase activator activity, guanylate cyclase activator activity, protein binding, hormone activity, GO:0031284, GO:0007586, GO:0007165, positive regulation of guanylate cyclase activity, digestion, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000197275 chr8 94371960 94475109 - RAD54B protein_coding The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]. 25788 GO:0005634, nucleus, GO:0015616, GO:0015616, GO:0005524, GO:0005515, GO:0003724, GO:0003678, GO:0003677, DNA translocase activity, DNA translocase activity, ATP binding, protein binding, RNA helicase activity, DNA helicase activity, DNA binding, GO:0042493, GO:0032508, GO:0010212, GO:0008340, GO:0007131, GO:0006312, GO:0000724, GO:0000724, response to drug, DNA duplex unwinding, response to ionizing radiation, determination of adult lifespan, reciprocal meiotic recombination, mitotic recombination, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 1 0 3 2 0 0 0 0 2 ENSG00000197279 chr6 28080975 28089563 + ZNF165 protein_coding This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act as transcriptional regulators. This gene is located within a cluster of zinc finger family members. The encoded protein may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]. 7718 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 28 40 27 1340 1055 1273 1041 856 662 ENSG00000197283 chr6 33419661 33457541 + SYNGAP1 protein_coding This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 8831 GO:0043198, GO:0014069, GO:0005886, GO:0005829, dendritic shaft, postsynaptic density, plasma membrane, cytosol, GO:0017124, GO:0005515, GO:0005096, SH3 domain binding, protein binding, GTPase activator activity, GO:0050803, GO:0050771, GO:0048169, GO:0048167, GO:0046580, GO:0043547, GO:0043524, GO:0043408, GO:0043113, GO:0016358, GO:0008542, GO:0007389, GO:0007265, GO:0000165, regulation of synapse structure or activity, negative regulation of axonogenesis, regulation of long-term neuronal synaptic plasticity, regulation of synaptic plasticity, negative regulation of Ras protein signal transduction, positive regulation of GTPase activity, negative regulation of neuron apoptotic process, regulation of MAPK cascade, receptor clustering, dendrite development, visual learning, pattern specification process, Ras protein signal transduction, MAPK cascade, 3 1 5 4 0 3 3 1 0 ENSG00000197291 chr17 42753914 42761257 - RAMP2-AS1 lincRNA 100190938 0 0 0 0 0 0 0 0 0 ENSG00000197296 chr20 44302838 44311169 - FITM2 protein_coding FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]. 128486 GO:0030176, GO:0030176, GO:0005789, GO:0005789, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0140042, GO:0035356, GO:0034389, GO:0034389, GO:0034389, GO:0030730, GO:0022604, GO:0019915, GO:0010890, GO:0010866, GO:0008654, GO:0007010, lipid droplet formation, cellular triglyceride homeostasis, lipid droplet organization, lipid droplet organization, lipid droplet organization, sequestering of triglyceride, regulation of cell morphogenesis, lipid storage, positive regulation of sequestering of triglyceride, regulation of triglyceride biosynthetic process, phospholipid biosynthetic process, cytoskeleton organization, 6 0 5 12 7 25 21 8 18 ENSG00000197299 chr15 90717327 90816165 + BLM protein_coding The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]. 641 GO:0032991, GO:0016605, GO:0016605, GO:0016363, GO:0005829, GO:0005737, GO:0005730, GO:0005694, GO:0005657, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000800, GO:0000781, GO:0000228, protein-containing complex, PML body, PML body, nuclear matrix, cytosol, cytoplasm, nucleolus, chromosome, replication fork, nucleoplasm, nucleoplasm, nucleus, nucleus, lateral element, chromosome, telomeric region, nuclear chromosome, GO:1905773, GO:0061849, GO:0061821, GO:0061749, GO:0051880, GO:0043138, GO:0042803, GO:0042802, GO:0036310, GO:0016887, GO:0009378, GO:0009378, GO:0008270, GO:0008094, GO:0005524, GO:0005515, GO:0004386, GO:0003697, GO:0003678, GO:0003678, GO:0003677, GO:0002039, GO:0000405, GO:0000403, GO:0000400, 8-hydroxy-2'-deoxyguanosine DNA binding, telomeric G-quadruplex DNA binding, telomeric D-loop binding, forked DNA-dependent helicase activity, G-quadruplex DNA binding, 3'-5' DNA helicase activity, protein homodimerization activity, identical protein binding, annealing helicase activity, ATPase activity, four-way junction helicase activity, four-way junction helicase activity, zinc ion binding, DNA-dependent ATPase activity, ATP binding, protein binding, helicase activity, single-stranded DNA binding, DNA helicase activity, DNA helicase activity, DNA binding, p53 binding, bubble DNA binding, Y-form DNA binding, four-way junction DNA binding, GO:1901796, GO:0090656, GO:0090329, GO:0072757, GO:0072711, GO:0071479, GO:0061820, GO:0051782, GO:0051260, GO:0051259, GO:0048478, GO:0045910, GO:0045893, GO:0044806, GO:0044806, GO:0044806, GO:0032508, GO:0032508, GO:0031297, GO:0010165, GO:0007095, GO:0006974, GO:0006974, GO:0006310, GO:0006310, GO:0006281, GO:0006281, GO:0006268, GO:0006260, GO:0006260, GO:0000733, GO:0000729, GO:0000724, GO:0000724, GO:0000723, GO:0000079, regulation of signal transduction by p53 class mediator, t-circle formation, regulation of DNA-dependent DNA replication, cellular response to camptothecin, cellular response to hydroxyurea, cellular response to ionizing radiation, telomeric D-loop disassembly, negative regulation of cell division, protein homooligomerization, protein complex oligomerization, replication fork protection, negative regulation of DNA recombination, positive regulation of transcription, DNA-templated, G-quadruplex DNA unwinding, G-quadruplex DNA unwinding, G-quadruplex DNA unwinding, DNA duplex unwinding, DNA duplex unwinding, replication fork processing, response to X-ray, mitotic G2 DNA damage checkpoint, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, DNA recombination, DNA recombination, DNA repair, DNA repair, DNA unwinding involved in DNA replication, DNA replication, DNA replication, DNA strand renaturation, DNA double-strand break processing, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, telomere maintenance, regulation of cyclin-dependent protein serine/threonine kinase activity, 9 25 18 25 13 22 38 24 10 ENSG00000197301 chr12 65851340 65882167 - AC090673.1 antisense 100129940 3 1 4 1 0 7 5 0 5 ENSG00000197302 chr16 31713229 31794869 + ZNF720 protein_coding 124411 GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 72 85 171 105 76 144 92 77 128 ENSG00000197308 chr10 8050450 8053484 - GATA3-AS1 lincRNA 399717 0 0 0 0 1 0 0 0 0 ENSG00000197309 chr11 124183345 124188780 + OR10D3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26497 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197312 chr1 15617500 15669044 + DDI2 protein_coding 84301 GO:0005829, GO:0005694, GO:0005654, cytosol, chromosome, nucleoplasm, GO:0043130, GO:0042802, GO:0005515, GO:0004190, ubiquitin binding, identical protein binding, protein binding, aspartic-type endopeptidase activity, GO:0097752, GO:0072711, GO:0031647, GO:0016485, GO:0016485, GO:0010498, regulation of DNA stability, cellular response to hydroxyurea, regulation of protein stability, protein processing, protein processing, proteasomal protein catabolic process, 66 69 131 87 83 145 87 43 72 ENSG00000197320 chr7 9726241 9728272 + AC060834.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197321 chr10 29457338 29736781 - SVIL protein_coding This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]. 6840 GO:0071437, GO:0043034, GO:0036449, GO:0032154, GO:0030496, GO:0015629, GO:0015629, GO:0015629, GO:0005925, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0002102, invadopodium, costamere, microtubule minus-end, cleavage furrow, midbody, actin cytoskeleton, actin cytoskeleton, actin cytoskeleton, focal adhesion, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, podosome, GO:0051015, GO:0051015, GO:0005546, GO:0005515, actin filament binding, actin filament binding, phosphatidylinositol-4,5-bisphosphate binding, protein binding, GO:0051016, GO:0051014, GO:0032467, GO:0008154, GO:0007519, barbed-end actin filament capping, actin filament severing, positive regulation of cytokinesis, actin polymerization or depolymerization, skeletal muscle tissue development, 3058 3451 3816 1770 2482 2292 2030 2046 2053 ENSG00000197322 chr17 34574123 34579369 - C17orf102 bidirectional_promoter_lncRNA 400591 0 0 0 0 0 0 0 0 0 ENSG00000197323 chr1 114392777 114511160 - TRIM33 protein_coding The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]. 51592 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:0070412, GO:0070410, GO:0008270, GO:0005515, GO:0004842, GO:0003677, R-SMAD binding, co-SMAD binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, DNA binding, GO:0045892, GO:0030514, GO:0017015, GO:0016567, GO:0016567, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of BMP signaling pathway, regulation of transforming growth factor beta receptor signaling pathway, protein ubiquitination, protein ubiquitination, negative regulation of transcription by RNA polymerase II, 1627 1753 1945 974 1621 1348 1132 1190 1078 ENSG00000197324 chr14 22871613 22881580 + LRP10 protein_coding This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]. 26020 GO:0016021, GO:0016020, GO:0005905, integral component of membrane, membrane, clathrin-coated pit, GO:0005515, GO:0005041, protein binding, low-density lipoprotein particle receptor activity, GO:0048839, GO:0006897, GO:0006869, GO:0006629, inner ear development, endocytosis, lipid transport, lipid metabolic process, 12949 14473 17697 3123 7765 5932 4365 6869 5044 ENSG00000197329 chr2 64092652 64144454 - PELI1 protein_coding 57162 GO:0005829, GO:0000778, cytosol, condensed nuclear chromosome kinetochore, GO:0061630, GO:0061630, GO:0034450, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin-ubiquitin ligase activity, protein binding, GO:0070936, GO:0070936, GO:0070534, GO:0070498, GO:0060546, GO:0043331, GO:0043161, GO:0043123, GO:0042130, GO:0034145, GO:0034141, GO:0032496, GO:0032088, GO:0031398, GO:0030890, GO:0008592, GO:0008063, GO:0001819, GO:0000209, protein K48-linked ubiquitination, protein K48-linked ubiquitination, protein K63-linked ubiquitination, interleukin-1-mediated signaling pathway, negative regulation of necroptotic process, response to dsRNA, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of T cell proliferation, positive regulation of toll-like receptor 4 signaling pathway, positive regulation of toll-like receptor 3 signaling pathway, response to lipopolysaccharide, negative regulation of NF-kappaB transcription factor activity, positive regulation of protein ubiquitination, positive regulation of B cell proliferation, regulation of Toll signaling pathway, Toll signaling pathway, positive regulation of cytokine production, protein polyubiquitination, 9487 10410 19653 7139 14182 14504 8340 10155 12433 ENSG00000197332 chr19 11639776 11686569 + AC008543.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000197334 chr8 9091240 9091508 + RF00017 misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000197343 chr7 99558406 99576453 + ZNF655 protein_coding This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 79027 GO:0005737, GO:0005730, GO:0005634, GO:0005634, cytoplasm, nucleolus, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003674, GO:0000981, GO:0000978, metal ion binding, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000134, GO:0006357, negative regulation of G1/S transition of mitotic cell cycle, regulation of transcription by RNA polymerase II, 1096 1205 1340 1297 1481 1457 1264 981 1122 ENSG00000197345 chr11 68891276 68903835 - MRPL21 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]. 219927 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 43 27 31 35 40 113 60 38 71 ENSG00000197353 chr8 142750150 142752534 - LYPD2 protein_coding 137797 GO:0031225, GO:0005886, GO:0005576, anchored component of membrane, plasma membrane, extracellular region, GO:0005515, protein binding, 2 1 0 0 0 0 0 0 0 ENSG00000197355 chr9 137077501 137084539 + UAP1L1 protein_coding 91373 GO:0003977, UDP-N-acetylglucosamine diphosphorylase activity, GO:0006048, UDP-N-acetylglucosamine biosynthetic process, 16 49 21 25 161 93 49 127 84 ENSG00000197358 chr14 28264390 28265974 + BNIP3P1 transcribed_processed_pseudogene 0 0 0 2 0 0 0 0 1 ENSG00000197360 chr19 22391019 22532485 - ZNF98 protein_coding 148198 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 1 0 0 ENSG00000197361 chr15 63597353 63602428 + FBXL22 protein_coding This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]. 283807 GO:0030018, GO:0019005, GO:0005829, GO:0005829, GO:0005829, GO:0005730, GO:0005634, Z disc, SCF ubiquitin ligase complex, cytosol, cytosol, cytosol, nucleolus, nucleus, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0051726, GO:0043687, GO:0043161, GO:0043153, GO:0031146, GO:0000209, GO:0000086, regulation of cell cycle, post-translational protein modification, proteasome-mediated ubiquitin-dependent protein catabolic process, entrainment of circadian clock by photoperiod, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, protein polyubiquitination, G2/M transition of mitotic cell cycle, 0 0 1 9 4 0 10 1 5 ENSG00000197362 chr7 149069643 149090782 - ZNF786 protein_coding 136051 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 7 6 19 9 8 10 21 4 14 ENSG00000197363 chr8 144798876 144811169 + ZNF517 protein_coding 340385 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 17 19 23 14 15 14 13 7 17 ENSG00000197364 chr1 153437058 153439949 - S100A7L2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000197372 chr19 23525631 23687220 - ZNF675 protein_coding 171392 GO:0048471, GO:0005634, GO:0000785, perinuclear region of cytoplasm, nucleus, chromatin, GO:0031625, GO:0008270, GO:0005515, GO:0003677, GO:0000981, GO:0000978, ubiquitin protein ligase binding, zinc ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000678, GO:2000660, GO:0046329, GO:0045671, GO:0045453, GO:0043508, GO:0032088, GO:0019221, GO:0010804, GO:0007249, GO:0006355, GO:0000122, negative regulation of transcription regulatory region DNA binding, negative regulation of interleukin-1-mediated signaling pathway, negative regulation of JNK cascade, negative regulation of osteoclast differentiation, bone resorption, negative regulation of JUN kinase activity, negative regulation of NF-kappaB transcription factor activity, cytokine-mediated signaling pathway, negative regulation of tumor necrosis factor-mediated signaling pathway, I-kappaB kinase/NF-kappaB signaling, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 27 8 41 23 16 16 33 9 10 ENSG00000197375 chr5 132369752 132395614 + SLC22A5 protein_coding Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 6584 GO:0070062, GO:0031526, GO:0031526, GO:0016324, GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005737, extracellular exosome, brush border membrane, brush border membrane, apical plasma membrane, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:1901235, GO:1901235, GO:0042910, GO:0030165, GO:0015651, GO:0015293, GO:0015226, GO:0015226, GO:0015226, GO:0005524, GO:0005515, (R)-carnitine transmembrane transporter activity, (R)-carnitine transmembrane transporter activity, xenobiotic transmembrane transporter activity, PDZ domain binding, quaternary ammonium group transmembrane transporter activity, symporter activity, carnitine transmembrane transporter activity, carnitine transmembrane transporter activity, carnitine transmembrane transporter activity, ATP binding, protein binding, GO:1990961, GO:1902603, GO:1902270, GO:1902270, GO:0150104, GO:0150104, GO:0070715, GO:0060731, GO:0015879, GO:0015879, GO:0015697, GO:0009609, GO:0006814, xenobiotic detoxification by transmembrane export across the plasma membrane, carnitine transmembrane transport, (R)-carnitine transmembrane transport, (R)-carnitine transmembrane transport, transport across blood-brain barrier, transport across blood-brain barrier, sodium-dependent organic cation transport, positive regulation of intestinal epithelial structure maintenance, carnitine transport, carnitine transport, quaternary ammonium group transport, response to symbiotic bacterium, sodium ion transport, 104 75 69 130 139 112 195 101 95 ENSG00000197376 chr12 48507354 48529897 + AC089987.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197380 chr19 46647612 46661138 - DACT3 protein_coding 147906 GO:0005737, cytoplasm, GO:0070097, GO:0051018, GO:0042802, GO:0005080, delta-catenin binding, protein kinase A binding, identical protein binding, protein kinase C binding, GO:0090090, GO:0090090, GO:0030308, GO:0030178, GO:0016055, GO:0010719, negative regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, negative regulation of cell growth, negative regulation of Wnt signaling pathway, Wnt signaling pathway, negative regulation of epithelial to mesenchymal transition, 2 1 2 0 3 5 8 1 2 ENSG00000197381 chr21 45073853 45226560 + ADARB1 protein_coding This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]. 104 GO:0045202, GO:0005829, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005634, synapse, cytosol, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0046872, GO:0008251, GO:0005515, GO:0003729, GO:0003726, GO:0003726, GO:0003725, GO:0003723, metal ion binding, tRNA-specific adenosine deaminase activity, protein binding, mRNA binding, double-stranded RNA adenosine deaminase activity, double-stranded RNA adenosine deaminase activity, double-stranded RNA binding, RNA binding, GO:0097049, GO:0061744, GO:0060415, GO:0060384, GO:0051726, GO:0051607, GO:0050884, GO:0045087, GO:0045070, GO:0044387, GO:0035264, GO:0030336, GO:0021965, GO:0021618, GO:0021610, GO:0016553, GO:0008285, GO:0007274, GO:0006397, GO:0006396, GO:0006396, GO:0006382, GO:0006382, GO:0006382, motor neuron apoptotic process, motor behavior, muscle tissue morphogenesis, innervation, regulation of cell cycle, defense response to virus, neuromuscular process controlling posture, innate immune response, positive regulation of viral genome replication, negative regulation of protein kinase activity by regulation of protein phosphorylation, multicellular organism growth, negative regulation of cell migration, spinal cord ventral commissure morphogenesis, hypoglossal nerve morphogenesis, facial nerve morphogenesis, base conversion or substitution editing, negative regulation of cell population proliferation, neuromuscular synaptic transmission, mRNA processing, RNA processing, RNA processing, adenosine to inosine editing, adenosine to inosine editing, adenosine to inosine editing, 32 47 72 74 28 72 71 8 70 ENSG00000197385 chr3 31981771 31991628 + ZNF860 protein_coding 344787 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 0 4 3 0 0 5 3 0 ENSG00000197386 chr4 3041422 3243960 + HTT protein_coding Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]. 3064 GO:0099524, GO:0099523, GO:0048471, GO:0048471, GO:0032991, GO:0032991, GO:0030659, GO:0030425, GO:0030424, GO:0016234, GO:0005829, GO:0005814, GO:0005794, GO:0005783, GO:0005776, GO:0005770, GO:0005769, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, postsynaptic cytosol, presynaptic cytosol, perinuclear region of cytoplasm, perinuclear region of cytoplasm, protein-containing complex, protein-containing complex, cytoplasmic vesicle membrane, dendrite, axon, inclusion body, cytosol, centriole, Golgi apparatus, endoplasmic reticulum, autophagosome, late endosome, early endosome, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0048487, GO:0045505, GO:0044325, GO:0042802, GO:0034452, GO:0031072, GO:0019900, GO:0005522, GO:0005515, GO:0002039, beta-tubulin binding, dynein intermediate chain binding, ion channel binding, identical protein binding, dynactin binding, heat shock protein binding, kinase binding, profilin binding, protein binding, p53 binding, GO:2001237, GO:2000479, GO:1905337, GO:1905289, GO:1904504, GO:1903599, GO:0099111, GO:0047496, GO:0045724, GO:0043666, GO:0043065, GO:0042297, GO:0031648, GO:0031587, GO:0007030, GO:0006915, GO:0006890, GO:0000132, negative regulation of extrinsic apoptotic signaling pathway, regulation of cAMP-dependent protein kinase activity, positive regulation of aggrephagy, regulation of CAMKK-AMPK signaling cascade, positive regulation of lipophagy, positive regulation of autophagy of mitochondrion, microtubule-based transport, vesicle transport along microtubule, positive regulation of cilium assembly, regulation of phosphoprotein phosphatase activity, positive regulation of apoptotic process, vocal learning, protein destabilization, positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, Golgi organization, apoptotic process, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, establishment of mitotic spindle orientation, 198 231 303 211 157 185 231 130 209 ENSG00000197403 chr1 158747814 158772195 - OR6N1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 128372 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 3 0 0 1 0 3 0 0 2 ENSG00000197405 chr19 47290023 47322066 + C5AR1 protein_coding 728 GO:0045177, GO:0043231, GO:0030667, GO:0016323, GO:0009986, GO:0005887, GO:0005886, GO:0005886, apical part of cell, intracellular membrane-bounded organelle, secretory granule membrane, basolateral plasma membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0004930, GO:0004930, GO:0004878, GO:0004878, GO:0004875, GO:0001856, G protein-coupled receptor activity, G protein-coupled receptor activity, complement component C5a receptor activity, complement component C5a receptor activity, complement receptor activity, complement component C5a binding, GO:1902947, GO:0099172, GO:0097242, GO:0090023, GO:0070374, GO:0050890, GO:0050830, GO:0050679, GO:0048143, GO:0045766, GO:0043524, GO:0043312, GO:0042789, GO:0038178, GO:0032496, GO:0032494, GO:0031100, GO:0030593, GO:0030449, GO:0021534, GO:0010759, GO:0010575, GO:0007606, GO:0007204, GO:0007202, GO:0007200, GO:0007186, GO:0007165, GO:0006968, GO:0006955, GO:0006954, GO:0006935, GO:0006915, GO:0002430, GO:0001774, GO:0000187, regulation of tau-protein kinase activity, presynapse organization, amyloid-beta clearance, positive regulation of neutrophil chemotaxis, positive regulation of ERK1 and ERK2 cascade, cognition, defense response to Gram-positive bacterium, positive regulation of epithelial cell proliferation, astrocyte activation, positive regulation of angiogenesis, negative regulation of neuron apoptotic process, neutrophil degranulation, mRNA transcription by RNA polymerase II, complement component C5a signaling pathway, response to lipopolysaccharide, response to peptidoglycan, animal organ regeneration, neutrophil chemotaxis, regulation of complement activation, cell proliferation in hindbrain, positive regulation of macrophage chemotaxis, positive regulation of vascular endothelial growth factor production, sensory perception of chemical stimulus, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, cellular defense response, immune response, inflammatory response, chemotaxis, apoptotic process, complement receptor mediated signaling pathway, microglial cell activation, activation of MAPK activity, 21844 25092 28691 5474 11932 7928 7932 12310 8131 ENSG00000197406 chr14 101561351 101563452 + DIO3 protein_coding The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in pregnant uterus, placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid hormones. It regulates circulating fetal thyroid hormone concentrations, and thus plays a critical role in mammalian development. Knockout mice lacking this gene exhibit abnormalities related to development and reproduction, and increased activity of this enzyme in infants with hemangiomas causes severe hypothyroidism. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, May 2016]. 1735 GO:0016021, GO:0010008, GO:0005886, integral component of membrane, endosome membrane, plasma membrane, GO:0033798, GO:0004800, GO:0004800, GO:0004800, thyroxine 5-deiodinase activity, thyroxine 5'-deiodinase activity, thyroxine 5'-deiodinase activity, thyroxine 5'-deiodinase activity, GO:0097474, GO:0055114, GO:0046549, GO:0042480, GO:0042446, GO:0042404, GO:0042403, GO:0042403, GO:0040018, GO:0006590, retinal cone cell apoptotic process, oxidation-reduction process, retinal cone cell development, negative regulation of eye photoreceptor cell development, hormone biosynthetic process, thyroid hormone catabolic process, thyroid hormone metabolic process, thyroid hormone metabolic process, positive regulation of multicellular organism growth, thyroid hormone generation, 0 0 0 0 0 0 0 0 0 ENSG00000197408 chr19 40991250 41018398 + CYP2B6 protein_coding This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]. 1555 GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0101021, GO:0062189, GO:0062188, GO:0062187, GO:0062184, GO:0020037, GO:0020037, GO:0016712, GO:0008395, GO:0008392, GO:0008390, GO:0005506, GO:0004497, estrogen 2-hydroxylase activity, anandamide 14,15 epoxidase activity, anandamide 11,12 epoxidase activity, anandamide 8,9 epoxidase activity, testosterone 16-beta-hydroxylase activity, heme binding, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, arachidonic acid epoxygenase activity, testosterone 16-alpha-hydroxylase activity, iron ion binding, monooxygenase activity, GO:0055114, GO:0055114, GO:0042738, GO:0042738, GO:0042180, GO:0019373, GO:0017144, GO:0017144, GO:0008202, GO:0006805, GO:0006805, GO:0006805, GO:0006082, oxidation-reduction process, oxidation-reduction process, exogenous drug catabolic process, exogenous drug catabolic process, cellular ketone metabolic process, epoxygenase P450 pathway, drug metabolic process, drug metabolic process, steroid metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000197409 chr6 26196840 26197250 - HIST1H3D protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8351 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nuclear chromosome, GO:0046982, GO:0045296, GO:0005515, GO:0003677, protein heterodimerization activity, cadherin binding, protein binding, DNA binding, GO:0060968, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0032200, GO:0007596, GO:0006335, GO:0006334, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, telomere organization, blood coagulation, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 0 0 0 0 0 0 0 0 0 ENSG00000197410 chr4 154231742 154495570 - DCHS2 protein_coding This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer's disease, compressive strength index, and appendicular lean mass. [provided by RefSeq, May 2017]. 54798 GO:0016021, GO:0005886, GO:0005575, integral component of membrane, plasma membrane, cellular_component, GO:0005509, GO:0003674, calcium ion binding, molecular_function, GO:0008150, GO:0007156, biological_process, homophilic cell adhesion via plasma membrane adhesion molecules, 0 1 0 0 0 0 0 1 0 ENSG00000197415 chr3 157259742 157533619 - VEPH1 protein_coding 79674 GO:0005886, plasma membrane, GO:0010314, GO:0005515, phosphatidylinositol-5-phosphate binding, protein binding, GO:0060392, GO:0030512, GO:0009966, negative regulation of SMAD protein signal transduction, negative regulation of transforming growth factor beta receptor signaling pathway, regulation of signal transduction, 6 3 29 2 8 7 5 7 19 ENSG00000197416 chr8 81524981 81531378 - FABP12 protein_coding 646486 GO:0005829, cytosol, GO:0008289, lipid binding, GO:0019433, triglyceride catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000197417 chr17 3608262 3636322 - SHPK protein_coding The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]. 23729 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0050277, GO:0050277, GO:0050277, GO:0016773, GO:0005524, sedoheptulokinase activity, sedoheptulokinase activity, sedoheptulokinase activity, phosphotransferase activity, alcohol group as acceptor, ATP binding, GO:0071353, GO:0071222, GO:0071222, GO:0050727, GO:0043030, GO:0035963, GO:0016310, GO:0016310, GO:0009052, GO:0006098, GO:0005975, cellular response to interleukin-4, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, regulation of inflammatory response, regulation of macrophage activation, cellular response to interleukin-13, phosphorylation, phosphorylation, pentose-phosphate shunt, non-oxidative branch, pentose-phosphate shunt, carbohydrate metabolic process, 0 0 2 0 0 1 9 3 5 ENSG00000197421 chr22 18773665 18843399 - GGT3P transcribed_unprocessed_pseudogene 2 5 0 1 0 0 0 0 0 ENSG00000197428 chr11 4637477 4643060 + OR51D1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390038 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197429 chr1 45694324 45750650 - IPP protein_coding The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 3652 GO:0015629, GO:0005737, actin cytoskeleton, cytoplasm, GO:0003779, actin binding, 49 56 81 32 41 47 31 29 49 ENSG00000197430 chr10 96343216 96359365 - OPALIN protein_coding 93377 GO:0044291, GO:0016021, GO:0005886, GO:0005886, GO:0005794, cell-cell contact zone, integral component of membrane, plasma membrane, plasma membrane, Golgi apparatus, GO:0048713, regulation of oligodendrocyte differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000197437 chr1 247670812 247679739 - OR13G1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 441933 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197442 chr6 136557047 136792518 - MAP3K5 protein_coding Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]. 4217 GO:1990604, GO:1902911, GO:0032991, GO:0009897, GO:0005829, GO:0005737, IRE1-TRAF2-ASK1 complex, protein kinase complex, protein-containing complex, external side of plasma membrane, cytosol, cytoplasm, GO:0042803, GO:0042802, GO:0019904, GO:0019903, GO:0019901, GO:0005524, GO:0005515, GO:0004709, GO:0004709, GO:0004674, GO:0004672, GO:0004672, GO:0000287, protein homodimerization activity, identical protein binding, protein domain specific binding, protein phosphatase binding, protein kinase binding, ATP binding, protein binding, MAP kinase kinase kinase activity, MAP kinase kinase kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, magnesium ion binding, GO:1904707, GO:1902170, GO:1901216, GO:1901216, GO:1900745, GO:0097300, GO:0097190, GO:0072577, GO:0071356, GO:0070301, GO:0070059, GO:0051403, GO:0046330, GO:0045893, GO:0045663, GO:0045087, GO:0043507, GO:0043280, GO:0043065, GO:0042060, GO:0038066, GO:0034976, GO:0034198, GO:0033554, GO:0016032, GO:0010666, GO:0008631, GO:0008631, GO:0007257, GO:0007254, GO:0006468, GO:0002931, GO:0000186, GO:0000186, GO:0000165, positive regulation of vascular associated smooth muscle cell proliferation, cellular response to reactive nitrogen species, positive regulation of neuron death, positive regulation of neuron death, positive regulation of p38MAPK cascade, programmed necrotic cell death, apoptotic signaling pathway, endothelial cell apoptotic process, cellular response to tumor necrosis factor, cellular response to hydrogen peroxide, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, stress-activated MAPK cascade, positive regulation of JNK cascade, positive regulation of transcription, DNA-templated, positive regulation of myoblast differentiation, innate immune response, positive regulation of JUN kinase activity, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of apoptotic process, wound healing, p38MAPK cascade, response to endoplasmic reticulum stress, cellular response to amino acid starvation, cellular response to stress, viral process, positive regulation of cardiac muscle cell apoptotic process, intrinsic apoptotic signaling pathway in response to oxidative stress, intrinsic apoptotic signaling pathway in response to oxidative stress, activation of JUN kinase activity, JNK cascade, protein phosphorylation, response to ischemia, activation of MAPKK activity, activation of MAPKK activity, MAPK cascade, 2069 1741 2710 1131 1447 1522 1332 1190 1181 ENSG00000197444 chr10 49734643 49762379 - OGDHL protein_coding The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]. 55753 GO:0045252, GO:0005759, GO:0005739, oxoglutarate dehydrogenase complex, mitochondrial matrix, mitochondrion, GO:0046872, GO:0030976, GO:0005515, GO:0004591, metal ion binding, thiamine pyrophosphate binding, protein binding, oxoglutarate dehydrogenase (succinyl-transferring) activity, GO:0006099, GO:0006096, tricarboxylic acid cycle, glycolytic process, 0 0 0 0 0 0 0 0 0 ENSG00000197446 chr19 41114432 41128366 + CYP2F1 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]. 1572 GO:0043231, GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0070330, GO:0020037, GO:0019825, GO:0016712, GO:0016712, GO:0008395, GO:0008392, GO:0005506, GO:0004497, aromatase activity, heme binding, oxygen binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, arachidonic acid epoxygenase activity, iron ion binding, monooxygenase activity, GO:0055114, GO:0042738, GO:0019373, GO:0018979, GO:0018931, GO:0018931, GO:0009636, GO:0006805, GO:0006805, GO:0006082, oxidation-reduction process, exogenous drug catabolic process, epoxygenase P450 pathway, trichloroethylene metabolic process, naphthalene metabolic process, naphthalene metabolic process, response to toxic substance, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, 0 2 0 3 1 0 4 2 2 ENSG00000197448 chr7 143244093 143270854 + GSTK1 protein_coding This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]. 373156 GO:0070062, GO:0016020, GO:0005829, GO:0005782, GO:0005777, GO:0005777, GO:0005759, GO:0005739, extracellular exosome, membrane, cytosol, peroxisomal matrix, peroxisome, peroxisome, mitochondrial matrix, mitochondrion, GO:0015035, GO:0005515, GO:0004602, GO:0004602, GO:0004364, GO:0004364, protein disulfide oxidoreductase activity, protein binding, glutathione peroxidase activity, glutathione peroxidase activity, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0098869, GO:0055114, GO:0030855, GO:0006749, GO:0006625, glutathione derivative biosynthetic process, cellular oxidant detoxification, oxidation-reduction process, epithelial cell differentiation, glutathione metabolic process, protein targeting to peroxisome, 676 530 785 888 640 980 796 566 754 ENSG00000197451 chr5 178204507 178211163 + HNRNPAB protein_coding This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 3182 GO:1990904, GO:0090575, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, ribonucleoprotein complex, RNA polymerase II transcription regulator complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0005515, GO:0003729, GO:0003723, GO:0003723, protein binding, mRNA binding, RNA binding, RNA binding, GO:0045893, GO:0010468, GO:0001837, positive regulation of transcription, DNA-templated, regulation of gene expression, epithelial to mesenchymal transition, 160 171 261 392 273 381 288 172 182 ENSG00000197454 chr1 248013660 248024276 + OR2L5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81466 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, GO:0003674, olfactory receptor activity, G protein-coupled receptor activity, molecular_function, GO:0050911, GO:0008150, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, biological_process, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197457 chr20 63639705 63657682 - STMN3 protein_coding This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 50861 GO:0043005, GO:0030426, GO:0005829, GO:0005794, GO:0005737, GO:0005737, neuron projection, growth cone, cytosol, Golgi apparatus, cytoplasm, cytoplasm, GO:0019904, GO:0015631, GO:0005515, protein domain specific binding, tubulin binding, protein binding, GO:0051493, GO:0043087, GO:0035021, GO:0031175, GO:0031175, GO:0031122, GO:0031110, GO:0007399, GO:0007019, GO:0001835, regulation of cytoskeleton organization, regulation of GTPase activity, negative regulation of Rac protein signal transduction, neuron projection development, neuron projection development, cytoplasmic microtubule organization, regulation of microtubule polymerization or depolymerization, nervous system development, microtubule depolymerization, blastocyst hatching, 46 47 96 113 48 100 125 33 96 ENSG00000197461 chr7 497258 520296 - PDGFA protein_coding This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. 5154 GO:0031093, GO:0009986, GO:0005902, GO:0005796, GO:0005788, GO:0005615, GO:0005615, GO:0005576, GO:0000139, platelet alpha granule lumen, cell surface, microvillus, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular region, Golgi membrane, GO:0070851, GO:0048407, GO:0046982, GO:0042803, GO:0008083, GO:0005518, GO:0005515, GO:0005161, GO:0005161, GO:0005161, growth factor receptor binding, platelet-derived growth factor binding, protein heterodimerization activity, protein homodimerization activity, growth factor activity, collagen binding, protein binding, platelet-derived growth factor receptor binding, platelet-derived growth factor receptor binding, platelet-derived growth factor receptor binding, GO:2000278, GO:1990401, GO:0072124, GO:0070374, GO:0070374, GO:0060683, GO:0051897, GO:0051897, GO:0051781, GO:0050919, GO:0050730, GO:0048286, GO:0048146, GO:0048008, GO:0048008, GO:0043588, GO:0043410, GO:0043406, GO:0043406, GO:0042060, GO:0035793, GO:0032956, GO:0031954, GO:0031954, GO:0030335, GO:0030335, GO:0030198, GO:0030036, GO:0030031, GO:0014910, GO:0014068, GO:0014068, GO:0010544, GO:0010512, GO:0009887, GO:0009611, GO:0008284, GO:0008284, GO:0007267, GO:0002576, GO:0002053, GO:0001942, GO:0001775, GO:0001525, GO:0000165, regulation of DNA biosynthetic process, embryonic lung development, regulation of glomerular mesangial cell proliferation, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of cell division, negative chemotaxis, regulation of peptidyl-tyrosine phosphorylation, lung alveolus development, positive regulation of fibroblast proliferation, platelet-derived growth factor receptor signaling pathway, platelet-derived growth factor receptor signaling pathway, skin development, positive regulation of MAPK cascade, positive regulation of MAP kinase activity, positive regulation of MAP kinase activity, wound healing, positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway, regulation of actin cytoskeleton organization, positive regulation of protein autophosphorylation, positive regulation of protein autophosphorylation, positive regulation of cell migration, positive regulation of cell migration, extracellular matrix organization, actin cytoskeleton organization, cell projection assembly, regulation of smooth muscle cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of platelet activation, negative regulation of phosphatidylinositol biosynthetic process, animal organ morphogenesis, response to wounding, positive regulation of cell population proliferation, positive regulation of cell population proliferation, cell-cell signaling, platelet degranulation, positive regulation of mesenchymal cell proliferation, hair follicle development, cell activation, angiogenesis, MAPK cascade, 0 0 1 1 0 0 0 2 0 ENSG00000197462 chr7 125917871 125933832 + AC003975.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000197465 chr4 143870867 143905563 - GYPE protein_coding The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. 2996 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, 0 1 0 0 0 0 7 0 0 ENSG00000197467 chr10 69801867 69964275 + COL13A1 protein_coding This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]. 1305 GO:0062023, GO:0045211, GO:0031012, GO:0005911, GO:0005886, GO:0005788, GO:0005615, GO:0005600, GO:0005581, GO:0005576, collagen-containing extracellular matrix, postsynaptic membrane, extracellular matrix, cell-cell junction, plasma membrane, endoplasmic reticulum lumen, extracellular space, collagen type XIII trimer, collagen trimer, extracellular region, GO:0030020, GO:0008201, GO:0008201, GO:0005515, GO:0005201, extracellular matrix structural constituent conferring tensile strength, heparin binding, heparin binding, protein binding, extracellular matrix structural constituent, GO:0098609, GO:0098609, GO:0030903, GO:0030574, GO:0030199, GO:0030198, GO:0030198, GO:0030154, GO:0007160, GO:0007160, GO:0001958, GO:0001763, GO:0001763, GO:0001501, cell-cell adhesion, cell-cell adhesion, notochord development, collagen catabolic process, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, cell differentiation, cell-matrix adhesion, cell-matrix adhesion, endochondral ossification, morphogenesis of a branching structure, morphogenesis of a branching structure, skeletal system development, 14 3 14 11 3 14 14 12 20 ENSG00000197468 chr4 8949630 8950559 + AC073648.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197471 chr16 29662979 29670876 + SPN protein_coding This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of serine and threonine residues, allowing extensive O-glycosylation, and has one potential N-glycosylation site, while the carboxy-terminal region has potential phosphorylation sites that may mediate transduction of activation signals. Different glycoforms of this protein have been described. In stimulated immune cells, proteolytic cleavage of the extracellular domain occurs in some cell types, releasing a soluble extracellular fragment. Defects in expression of this gene are associated with Wiskott-Aldrich syndrome. [provided by RefSeq, Sep 2017]. 6693 GO:0070062, GO:0016605, GO:0016020, GO:0009986, GO:0009897, GO:0005902, GO:0005887, GO:0005886, GO:0005615, GO:0005604, GO:0001931, extracellular exosome, PML body, membrane, cell surface, external side of plasma membrane, microvillus, integral component of plasma membrane, plasma membrane, extracellular space, basement membrane, uropod, GO:0031072, GO:0031072, GO:0030544, GO:0005515, GO:0004888, heat shock protein binding, heat shock protein binding, Hsp70 protein binding, protein binding, transmembrane signaling receptor activity, GO:2000406, GO:2000404, GO:0097190, GO:0050901, GO:0050900, GO:0050776, GO:0050688, GO:0045060, GO:0042742, GO:0042742, GO:0042130, GO:0042102, GO:0032760, GO:0032609, GO:0031295, GO:0007166, GO:0007165, GO:0007163, GO:0007162, GO:0006968, GO:0006955, GO:0006935, GO:0002296, GO:0001934, GO:0001808, GO:0001562, positive regulation of T cell migration, regulation of T cell migration, apoptotic signaling pathway, leukocyte tethering or rolling, leukocyte migration, regulation of immune response, regulation of defense response to virus, negative thymic T cell selection, defense response to bacterium, defense response to bacterium, negative regulation of T cell proliferation, positive regulation of T cell proliferation, positive regulation of tumor necrosis factor production, interferon-gamma production, T cell costimulation, cell surface receptor signaling pathway, signal transduction, establishment or maintenance of cell polarity, negative regulation of cell adhesion, cellular defense response, immune response, chemotaxis, T-helper 1 cell lineage commitment, positive regulation of protein phosphorylation, negative regulation of type IV hypersensitivity, response to protozoan, 148 104 278 284 118 479 270 141 306 ENSG00000197472 chr1 246945547 247008093 - ZNF695 protein_coding 57116 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2 5 4 1 0 1 3 1 0 ENSG00000197475 chr8 39451045 39522852 - ADAM3A transcribed_unitary_pseudogene 1587 0 0 0 3 0 0 0 0 0 ENSG00000197476 chr16 31962063 31962381 + AC034105.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197479 chr5 141199582 141203779 + PCDHB11 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 56125 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007416, GO:0007399, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, nervous system development, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000197483 chr19 55476332 55484487 + ZNF628 protein_coding Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]. 89887 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 249 319 196 175 227 213 216 202 160 ENSG00000197487 chr19 56176020 56185775 + GALP protein_coding This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.[provided by RefSeq, Nov 2014]. 85569 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005515, GO:0005179, protein binding, hormone activity, GO:0061844, GO:0050829, GO:0042595, GO:0032868, GO:0032098, GO:0008150, GO:0007218, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-negative bacterium, behavioral response to starvation, response to insulin, regulation of appetite, biological_process, neuropeptide signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197496 chr20 46709487 46736347 + SLC2A10 protein_coding This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]. 81031 GO:0048471, GO:0016021, GO:0012505, GO:0005887, GO:0005886, GO:0005886, perinuclear region of cytoplasm, integral component of membrane, endomembrane system, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0055056, GO:0033300, GO:0005351, D-glucose transmembrane transporter activity, dehydroascorbic acid transmembrane transporter activity, carbohydrate:proton symporter activity, GO:2001045, GO:1904659, GO:1903053, GO:1902730, GO:1902729, GO:1902600, GO:0150104, GO:0098708, GO:0072498, GO:0070837, GO:0060840, GO:0060392, GO:0045454, GO:0043588, GO:0032683, GO:0030512, GO:0030511, GO:0015757, GO:0010629, GO:0010628, GO:0008645, negative regulation of integrin-mediated signaling pathway, glucose transmembrane transport, regulation of extracellular matrix organization, positive regulation of proteoglycan biosynthetic process, negative regulation of proteoglycan biosynthetic process, proton transmembrane transport, transport across blood-brain barrier, glucose import across plasma membrane, embryonic skeletal joint development, dehydroascorbic acid transport, artery development, negative regulation of SMAD protein signal transduction, cell redox homeostasis, skin development, negative regulation of connective tissue growth factor production, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of transforming growth factor beta receptor signaling pathway, galactose transmembrane transport, negative regulation of gene expression, positive regulation of gene expression, hexose transmembrane transport, 0 1 0 0 0 0 0 0 0 ENSG00000197497 chr19 53159213 53193386 - ZNF665 protein_coding 79788 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 2 0 9 3 6 6 4 6 ENSG00000197498 chr6 110982015 111028263 + RPF2 protein_coding 84154 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:0019843, GO:0008097, GO:0005515, GO:0003723, rRNA binding, 5S rRNA binding, protein binding, RNA binding, GO:1902570, GO:1901796, GO:0042273, GO:0000463, GO:0000027, protein localization to nucleolus, regulation of signal transduction by p53 class mediator, ribosomal large subunit biogenesis, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), ribosomal large subunit assembly, 15 12 17 118 41 67 68 39 46 ENSG00000197503 chr12 24566964 24584168 - LINC00477 lincRNA 144360 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000197506 chr9 84275457 84340683 - SLC28A3 protein_coding Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]. 64078 GO:0031526, GO:0005887, GO:0005886, GO:0005789, brush border membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum membrane, GO:0015390, GO:0015389, GO:0015293, GO:0015213, GO:0005415, GO:0005415, GO:0005345, GO:0005337, purine-specific nucleoside:sodium symporter activity, pyrimidine- and adenine-specific:sodium symporter activity, symporter activity, uridine transmembrane transporter activity, nucleoside:sodium symporter activity, nucleoside:sodium symporter activity, purine nucleobase transmembrane transporter activity, nucleoside transmembrane transporter activity, GO:1904823, GO:1901642, GO:1901642, GO:0072531, GO:0035725, GO:0015864, GO:0015862, GO:0015860, GO:0015855, purine nucleobase transmembrane transport, nucleoside transmembrane transport, nucleoside transmembrane transport, pyrimidine-containing compound transmembrane transport, sodium ion transmembrane transport, pyrimidine nucleoside transport, uridine transport, purine nucleoside transmembrane transport, pyrimidine nucleobase transport, 0 2 0 1 0 0 0 3 0 ENSG00000197520 chr1 222737207 222750805 + FAM177B protein_coding 400823 2 4 2 0 1 0 6 3 3 ENSG00000197530 chr1 1615415 1630610 + MIB2 protein_coding The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017]. 142678 GO:0005829, GO:0005769, GO:0005737, GO:0000151, cytosol, early endosome, cytoplasm, ubiquitin ligase complex, GO:0061630, GO:0008270, GO:0005515, GO:0004842, GO:0003779, ubiquitin protein ligase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, actin binding, GO:0043123, GO:0016567, GO:0007219, GO:0000209, positive regulation of I-kappaB kinase/NF-kappaB signaling, protein ubiquitination, Notch signaling pathway, protein polyubiquitination, 563 594 574 740 834 639 699 553 610 ENSG00000197532 chr1 158544550 158554405 - OR6Y1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391112 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197535 chr15 52307283 52529050 - MYO5A protein_coding This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]. 4644 GO:0098978, GO:0098794, GO:0070062, GO:0055037, GO:0043025, GO:0043005, GO:0042641, GO:0042470, GO:0035371, GO:0032593, GO:0032433, GO:0031982, GO:0030426, GO:0016461, GO:0016020, GO:0016020, GO:0015629, GO:0005884, GO:0005882, GO:0005829, GO:0005794, GO:0005783, GO:0005777, GO:0005770, GO:0005769, GO:0005764, GO:0005737, GO:0005737, GO:0001750, GO:0001726, glutamatergic synapse, postsynapse, extracellular exosome, recycling endosome, neuronal cell body, neuron projection, actomyosin, melanosome, microtubule plus-end, insulin-responsive compartment, filopodium tip, vesicle, growth cone, unconventional myosin complex, membrane, membrane, actin cytoskeleton, actin filament, intermediate filament, cytosol, Golgi apparatus, endoplasmic reticulum, peroxisome, late endosome, early endosome, lysosome, cytoplasm, cytoplasm, photoreceptor outer segment, ruffle, GO:0097718, GO:0051015, GO:0042802, GO:0031267, GO:0030898, GO:0005524, GO:0005516, GO:0005515, GO:0005509, GO:0003723, GO:0000146, GO:0000146, disordered domain specific binding, actin filament binding, identical protein binding, small GTPase binding, actin-dependent ATPase activity, ATP binding, calmodulin binding, protein binding, calcium ion binding, RNA binding, microfilament motor activity, microfilament motor activity, GO:1903358, GO:0099566, GO:0099089, GO:0072659, GO:0050808, GO:0048820, GO:0042759, GO:0042552, GO:0042476, GO:0042438, GO:0032869, GO:0032402, GO:0032252, GO:0031987, GO:0031585, GO:0030318, GO:0030073, GO:0030050, GO:0030050, GO:0030048, GO:0016192, GO:0007601, GO:0007268, GO:0007015, GO:0006892, GO:0006887, regulation of Golgi organization, regulation of postsynaptic cytosolic calcium ion concentration, establishment of endoplasmic reticulum localization to postsynapse, protein localization to plasma membrane, synapse organization, hair follicle maturation, long-chain fatty acid biosynthetic process, myelination, odontogenesis, melanin biosynthetic process, cellular response to insulin stimulus, melanosome transport, secretory granule localization, locomotion involved in locomotory behavior, regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, melanocyte differentiation, insulin secretion, vesicle transport along actin filament, vesicle transport along actin filament, actin filament-based movement, vesicle-mediated transport, visual perception, chemical synaptic transmission, actin filament organization, post-Golgi vesicle-mediated transport, exocytosis, 1413 1448 2269 975 1317 1687 1048 933 1318 ENSG00000197536 chr5 132410636 132488702 + C5orf56 processed_transcript 2480 1535 2579 1921 2408 2831 2145 1746 2695 ENSG00000197540 chr19 544034 549924 + GZMM protein_coding Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 3004 GO:0016020, GO:0005576, membrane, extracellular region, GO:0008236, GO:0005515, GO:0004252, serine-type peptidase activity, protein binding, serine-type endopeptidase activity, GO:0045087, GO:0019835, GO:0008219, GO:0006915, GO:0006508, GO:0001913, innate immune response, cytolysis, cell death, apoptotic process, proteolysis, T cell mediated cytotoxicity, 55 35 111 173 68 312 114 73 160 ENSG00000197548 chr3 11272309 11557665 + ATG7 protein_coding This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 10533 GO:1904813, GO:0034774, GO:0030424, GO:0005930, GO:0005829, GO:0005737, GO:0005737, GO:0005576, GO:0000407, ficolin-1-rich granule lumen, secretory granule lumen, axon, axoneme, cytosol, cytoplasm, cytoplasm, extracellular region, phagophore assembly site, GO:0042803, GO:0019779, GO:0019778, GO:0019778, GO:0008134, GO:0005515, protein homodimerization activity, Atg8 activating enzyme activity, Atg12 activating enzyme activity, Atg12 activating enzyme activity, transcription factor binding, protein binding, GO:1903204, GO:1902617, GO:0090298, GO:0075044, GO:0071455, GO:0071315, GO:0061684, GO:0051607, GO:0048511, GO:0045732, GO:0044805, GO:0043312, GO:0043065, GO:0042752, GO:0039521, GO:0034727, GO:0032446, GO:0031401, GO:0016236, GO:0016236, GO:0015031, GO:0009749, GO:0009267, GO:0007568, GO:0006995, GO:0006914, GO:0006914, GO:0006501, GO:0006497, GO:0000422, GO:0000422, GO:0000045, negative regulation of oxidative stress-induced neuron death, response to fluoride, negative regulation of mitochondrial DNA replication, positive regulation by symbiont of host autophagy, cellular response to hyperoxia, cellular response to morphine, chaperone-mediated autophagy, defense response to virus, rhythmic process, positive regulation of protein catabolic process, late nucleophagy, neutrophil degranulation, positive regulation of apoptotic process, regulation of circadian rhythm, suppression by virus of host autophagy, piecemeal microautophagy of the nucleus, protein modification by small protein conjugation, positive regulation of protein modification process, macroautophagy, macroautophagy, protein transport, response to glucose, cellular response to starvation, aging, cellular response to nitrogen starvation, autophagy, autophagy, C-terminal protein lipidation, protein lipidation, autophagy of mitochondrion, autophagy of mitochondrion, autophagosome assembly, 407 415 609 182 322 302 277 295 340 ENSG00000197549 chr22 21991099 22043934 - PRAMENP transcribed_unprocessed_pseudogene 649179 1 0 0 1 0 0 0 0 0 ENSG00000197550 chr9 64817870 64836341 + AL359955.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197555 chr14 71320449 71741229 + SIPA1L1 protein_coding 26037 GO:0043197, GO:0014069, GO:0005856, GO:0005737, GO:0005737, GO:0005575, dendritic spine, postsynaptic density, cytoskeleton, cytoplasm, cytoplasm, cellular_component, GO:0046875, GO:0005096, GO:0005096, GO:0003674, ephrin receptor binding, GTPase activator activity, GTPase activator activity, molecular_function, GO:0090630, GO:0090630, GO:0061001, GO:0051056, GO:0050770, GO:0048167, GO:0048013, GO:0043087, GO:0031532, GO:0008150, activation of GTPase activity, activation of GTPase activity, regulation of dendritic spine morphogenesis, regulation of small GTPase mediated signal transduction, regulation of axonogenesis, regulation of synaptic plasticity, ephrin receptor signaling pathway, regulation of GTPase activity, actin cytoskeleton reorganization, biological_process, 2937 2436 3202 1307 1535 1512 1521 1238 1236 ENSG00000197557 chr2 177612992 177618966 - TTC30A protein_coding 92104 GO:0036064, GO:0030992, GO:0005879, ciliary basal body, intraciliary transport particle B, axonemal microtubule, GO:0120170, intraciliary transport particle B binding, GO:0042073, intraciliary transport, 8 12 5 7 20 13 5 10 19 ENSG00000197558 chr7 149776042 149833979 + SSPO protein_coding 25 14 14 34 16 33 16 14 33 ENSG00000197561 chr19 851014 856247 + ELANE protein_coding Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]. 1991 GO:0070062, GO:0062023, GO:0045335, GO:0035580, GO:0035578, GO:0030141, GO:0017053, GO:0009986, GO:0005737, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, phagocytic vesicle, specific granule lumen, azurophil granule lumen, secretory granule, transcription repressor complex, cell surface, cytoplasm, extracellular space, extracellular space, extracellular region, extracellular region, GO:0019955, GO:0008233, GO:0008201, GO:0005515, GO:0004252, GO:0004252, GO:0004175, GO:0003714, GO:0002020, cytokine binding, peptidase activity, heparin binding, protein binding, serine-type endopeptidase activity, serine-type endopeptidase activity, endopeptidase activity, transcription corepressor activity, protease binding, GO:1903238, GO:0070947, GO:0070945, GO:0050922, GO:0050778, GO:0050728, GO:0048661, GO:0043406, GO:0043312, GO:0042742, GO:0032757, GO:0032717, GO:0032682, GO:0032496, GO:0030163, GO:0022617, GO:0019730, GO:0009411, GO:0006909, GO:0006874, GO:0006508, GO:0006508, GO:0002812, GO:0002523, GO:0002438, GO:0001878, GO:0000122, positive regulation of leukocyte tethering or rolling, neutrophil-mediated killing of fungus, neutrophil-mediated killing of gram-negative bacterium, negative regulation of chemotaxis, positive regulation of immune response, negative regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, positive regulation of MAP kinase activity, neutrophil degranulation, defense response to bacterium, positive regulation of interleukin-8 production, negative regulation of interleukin-8 production, negative regulation of chemokine production, response to lipopolysaccharide, protein catabolic process, extracellular matrix disassembly, antimicrobial humoral response, response to UV, phagocytosis, cellular calcium ion homeostasis, proteolysis, proteolysis, biosynthetic process of antibacterial peptides active against Gram-negative bacteria, leukocyte migration involved in inflammatory response, acute inflammatory response to antigenic stimulus, response to yeast, negative regulation of transcription by RNA polymerase II, 0 1 1 0 9 0 0 0 0 ENSG00000197562 chr16 589357 629272 + RAB40C protein_coding 57799 GO:0048471, GO:0008021, GO:0005886, GO:0005768, perinuclear region of cytoplasm, synaptic vesicle, plasma membrane, endosome, GO:0019003, GO:0005525, GO:0003924, GDP binding, GTP binding, GTPase activity, GO:0072659, GO:0035556, GO:0016567, protein localization to plasma membrane, intracellular signal transduction, protein ubiquitination, 201 336 240 147 311 192 205 240 173 ENSG00000197563 chr18 61905255 62187118 - PIGN protein_coding This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]. 23556 GO:0016021, GO:0016020, GO:0005886, GO:0005829, GO:0005789, GO:0005789, integral component of membrane, membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0051377, GO:0051377, mannose-ethanolamine phosphotransferase activity, mannose-ethanolamine phosphotransferase activity, GO:0016254, GO:0006506, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, 67 78 103 79 66 87 59 49 68 ENSG00000197565 chrX 108155607 108439497 - COL4A6 protein_coding This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]. 1288 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005587, GO:0005587, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type IV trimer, collagen type IV trimer, extracellular region, GO:0030020, GO:0030020, GO:0005515, GO:0005201, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0038063, GO:0030198, GO:0030198, GO:0007155, collagen-activated tyrosine kinase receptor signaling pathway, extracellular matrix organization, extracellular matrix organization, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000197566 chr17 16620737 16653856 - ZNF624 protein_coding 57547 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 10 5 15 14 12 0 12 8 14 ENSG00000197568 chr1 70354805 70385339 + HHLA3 protein_coding 11147 GO:0005515, protein binding, 2 1 1 7 4 10 2 1 3 ENSG00000197575 chr5 116716243 116716650 + RPS17P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197576 chr7 27128507 27130799 - HOXA4 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]. 3201 GO:0016604, GO:0005634, GO:0000785, nuclear body, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048704, GO:0045944, GO:0009952, GO:0009653, GO:0006357, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, anterior/posterior pattern specification, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 1 0 0 0 1 0 0 ENSG00000197579 chr9 32540544 32552553 - TOPORS protein_coding This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]. 10210 GO:0036064, GO:0036064, GO:0032391, GO:0032391, GO:0030496, GO:0016607, GO:0016607, GO:0016605, GO:0016605, GO:0005868, GO:0005814, GO:0005654, GO:0005654, GO:0005634, GO:0000930, GO:0000922, GO:0000151, ciliary basal body, ciliary basal body, photoreceptor connecting cilium, photoreceptor connecting cilium, midbody, nuclear speck, nuclear speck, PML body, PML body, cytoplasmic dynein complex, centriole, nucleoplasm, nucleoplasm, nucleus, gamma-tubulin complex, spindle pole, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0046872, GO:0044547, GO:0019789, GO:0019789, GO:0019789, GO:0005515, GO:0004842, GO:0004842, GO:0003823, GO:0003677, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, DNA topoisomerase binding, SUMO transferase activity, SUMO transferase activity, SUMO transferase activity, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, antigen binding, DNA binding, GO:0070936, GO:0051457, GO:0051443, GO:0046549, GO:0046548, GO:0045893, GO:0043161, GO:0043066, GO:0042771, GO:0042127, GO:0035845, GO:0034504, GO:0016925, GO:0016925, GO:0016925, GO:0010842, GO:0008630, GO:0006974, GO:0006513, GO:0006513, GO:0006511, GO:0006351, GO:0000209, GO:0000209, protein K48-linked ubiquitination, maintenance of protein location in nucleus, positive regulation of ubiquitin-protein transferase activity, retinal cone cell development, retinal rod cell development, positive regulation of transcription, DNA-templated, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of apoptotic process, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, regulation of cell population proliferation, photoreceptor cell outer segment organization, protein localization to nucleus, protein sumoylation, protein sumoylation, protein sumoylation, retina layer formation, intrinsic apoptotic signaling pathway in response to DNA damage, cellular response to DNA damage stimulus, protein monoubiquitination, protein monoubiquitination, ubiquitin-dependent protein catabolic process, transcription, DNA-templated, protein polyubiquitination, protein polyubiquitination, 1110 1022 1344 570 1201 961 848 1024 835 ENSG00000197580 chr11 112175467 112224699 + BCO2 protein_coding This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 83875 GO:0005759, GO:0005739, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, mitochondrion, GO:0102076, GO:0046872, GO:0016702, GO:0010436, GO:0003834, beta,beta-carotene-9',10'-cleaving oxygenase activity, metal ion binding, oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, carotenoid dioxygenase activity, beta-carotene 15,15'-monooxygenase activity, GO:2000377, GO:0055114, GO:0051881, GO:0042574, GO:0042574, GO:0042573, GO:0016122, GO:0016121, GO:0016121, GO:0016119, GO:0016116, GO:0001523, regulation of reactive oxygen species metabolic process, oxidation-reduction process, regulation of mitochondrial membrane potential, retinal metabolic process, retinal metabolic process, retinoic acid metabolic process, xanthophyll metabolic process, carotene catabolic process, carotene catabolic process, carotene metabolic process, carotenoid metabolic process, retinoid metabolic process, 3 12 5 2 3 3 17 2 5 ENSG00000197582 chrX 13378735 13379340 - GPX1P1 processed_pseudogene 2 20 8 2 10 11 3 9 11 ENSG00000197584 chr3 178272932 178844429 + KCNMB2 protein_coding MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]. 10242 GO:0008076, GO:0008076, GO:0005887, GO:0005886, voltage-gated potassium channel complex, voltage-gated potassium channel complex, integral component of plasma membrane, plasma membrane, GO:0015459, GO:0015269, GO:0015269, GO:0008200, GO:0005515, potassium channel regulator activity, calcium-activated potassium channel activity, calcium-activated potassium channel activity, ion channel inhibitor activity, protein binding, GO:0071805, GO:0019229, GO:0019228, GO:0006813, GO:0005513, GO:0005513, GO:0001508, potassium ion transmembrane transport, regulation of vasoconstriction, neuronal action potential, potassium ion transport, detection of calcium ion, detection of calcium ion, action potential, 0 0 0 0 0 0 0 0 0 ENSG00000197585 chr2 214250040 214684246 - AC068051.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000197586 chr20 25195693 25226729 + ENTPD6 protein_coding ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. 955 GO:0016021, GO:0016020, GO:0009986, GO:0005886, GO:0005794, GO:0005794, GO:0005615, GO:0005576, GO:0000139, integral component of membrane, membrane, cell surface, plasma membrane, Golgi apparatus, Golgi apparatus, extracellular space, extracellular region, Golgi membrane, GO:0045134, GO:0045134, GO:0017111, GO:0017110, GO:0008894, GO:0004382, uridine-diphosphatase activity, uridine-diphosphatase activity, nucleoside-triphosphatase activity, nucleoside-diphosphatase activity, guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity, guanosine-diphosphatase activity, GO:0051592, GO:0034656, GO:0032026, GO:0009134, response to calcium ion, nucleobase-containing small molecule catabolic process, response to magnesium ion, nucleoside diphosphate catabolic process, 35 23 60 66 34 92 66 22 46 ENSG00000197587 chr1 46506996 46514226 + DMBX1 protein_coding This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 127343 GO:0005667, GO:0000785, transcription regulator complex, chromatin, GO:1990837, GO:0043565, GO:0042802, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, identical protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048589, GO:0045892, GO:0008344, GO:0008343, GO:0007420, GO:0007417, GO:0006357, GO:0000122, developmental growth, negative regulation of transcription, DNA-templated, adult locomotory behavior, adult feeding behavior, brain development, central nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000197588 chr19 50882096 50896398 - KLKP1 transcribed_unprocessed_pseudogene 606293 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000197591 chr1 247840928 247841896 - OR11L1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391189 GO:0070062, GO:0016021, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, GO:0003674, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, molecular_function, GO:0050911, GO:0008150, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, biological_process, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197594 chr6 131808016 131895155 + ENPP1 protein_coding This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]. 5167 GO:0016323, GO:0016021, GO:0009986, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005765, GO:0005615, basolateral plasma membrane, integral component of membrane, cell surface, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, extracellular space, GO:0106177, GO:0050656, GO:0047429, GO:0042803, GO:0036218, GO:0035529, GO:0030247, GO:0008270, GO:0005524, GO:0005515, GO:0005509, GO:0005158, GO:0005044, GO:0004551, GO:0004551, GO:0004528, GO:0004528, GO:0004528, GO:0004527, GO:0003676, cyclic-GMP-AMP hydrolase activity, 3'-phosphoadenosine 5'-phosphosulfate binding, nucleoside-triphosphate diphosphatase activity, protein homodimerization activity, dTTP diphosphatase activity, NADH pyrophosphatase activity, polysaccharide binding, zinc ion binding, ATP binding, protein binding, calcium ion binding, insulin receptor binding, scavenger receptor activity, nucleotide diphosphatase activity, nucleotide diphosphatase activity, phosphodiesterase I activity, phosphodiesterase I activity, phosphodiesterase I activity, exonuclease activity, nucleic acid binding, GO:1990787, GO:0090305, GO:0050427, GO:0046627, GO:0046325, GO:0046034, GO:0046034, GO:0045719, GO:0045599, GO:0045599, GO:0032869, GO:0031953, GO:0031214, GO:0030730, GO:0030643, GO:0030505, GO:0030505, GO:0030502, GO:0030500, GO:0030500, GO:0030318, GO:0030308, GO:0009143, GO:0009143, GO:0006955, GO:0006897, GO:0006796, GO:0006771, GO:0006091, negative regulation of hh target transcription factor activity, nucleic acid phosphodiester bond hydrolysis, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, negative regulation of insulin receptor signaling pathway, negative regulation of glucose import, ATP metabolic process, ATP metabolic process, negative regulation of glycogen biosynthetic process, negative regulation of fat cell differentiation, negative regulation of fat cell differentiation, cellular response to insulin stimulus, negative regulation of protein autophosphorylation, biomineral tissue development, sequestering of triglyceride, cellular phosphate ion homeostasis, inorganic diphosphate transport, inorganic diphosphate transport, negative regulation of bone mineralization, regulation of bone mineralization, regulation of bone mineralization, melanocyte differentiation, negative regulation of cell growth, nucleoside triphosphate catabolic process, nucleoside triphosphate catabolic process, immune response, endocytosis, phosphate-containing compound metabolic process, riboflavin metabolic process, generation of precursor metabolites and energy, 0 0 0 2 0 0 0 0 0 ENSG00000197595 chr13 112647044 112684497 + ATP11AUN lincRNA 400165 4 1 2 0 3 0 0 0 0 ENSG00000197599 chr16 1434383 1444556 - CCDC154 protein_coding 645811 GO:0005769, early endosome, 9 10 3 22 22 6 14 26 14 ENSG00000197601 chr11 13668670 13732346 + FAR1 protein_coding The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]. 84188 GO:0043231, GO:0005782, GO:0005779, GO:0005778, GO:0005777, GO:0005777, intracellular membrane-bounded organelle, peroxisomal matrix, integral component of peroxisomal membrane, peroxisomal membrane, peroxisome, peroxisome, GO:0102965, GO:0080019, GO:0080019, GO:0016491, GO:0005515, alcohol-forming fatty acyl-CoA reductase activity, fatty-acyl-CoA reductase (alcohol-forming) activity, fatty-acyl-CoA reductase (alcohol-forming) activity, oxidoreductase activity, protein binding, GO:0055114, GO:0046474, GO:0035336, GO:0035336, GO:0010025, GO:0010025, GO:0008611, GO:0008611, oxidation-reduction process, glycerophospholipid biosynthetic process, long-chain fatty-acyl-CoA metabolic process, long-chain fatty-acyl-CoA metabolic process, wax biosynthetic process, wax biosynthetic process, ether lipid biosynthetic process, ether lipid biosynthetic process, 2949 2757 4435 1659 2504 2974 2142 1863 2578 ENSG00000197603 chr5 37106228 37249428 - CPLANE1 protein_coding The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]. 65250 GO:0035869, GO:0016021, ciliary transition zone, integral component of membrane, GO:1904491, GO:0060976, GO:0060271, GO:0060271, GO:0060021, GO:0042733, GO:0021549, GO:0003281, GO:0001822, GO:0001736, protein localization to ciliary transition zone, coronary vasculature development, cilium assembly, cilium assembly, roof of mouth development, embryonic digit morphogenesis, cerebellum development, ventricular septum development, kidney development, establishment of planar polarity, 19 13 35 53 24 64 59 14 35 ENSG00000197608 chr19 52064466 52095765 - ZNF841 protein_coding 284371 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 165 142 161 225 174 229 182 130 178 ENSG00000197614 chr12 8637346 8662888 - MFAP5 protein_coding This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. 8076 GO:0062023, GO:0005576, GO:0001527, GO:0001527, collagen-containing extracellular matrix, extracellular region, microfibril, microfibril, GO:0005201, extracellular matrix structural constituent, GO:0097435, GO:0060216, GO:0048048, GO:0030198, supramolecular fiber organization, definitive hemopoiesis, embryonic eye morphogenesis, extracellular matrix organization, 1 0 0 0 0 0 0 0 0 ENSG00000197616 chr14 23381990 23408277 - MYH6 protein_coding Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]. 4624 GO:0032982, GO:0030018, GO:0030017, GO:0030016, GO:0016459, GO:0005859, GO:0005829, GO:0001725, myosin filament, Z disc, sarcomere, myofibril, myosin complex, muscle myosin complex, cytosol, stress fiber, GO:0051015, GO:0030898, GO:0019901, GO:0017018, GO:0016887, GO:0005524, GO:0005516, GO:0000146, GO:0000146, actin filament binding, actin-dependent ATPase activity, protein kinase binding, myosin phosphatase activity, ATPase activity, ATP binding, calmodulin binding, microfilament motor activity, microfilament motor activity, GO:0060420, GO:0060048, GO:0055010, GO:0055009, GO:0048739, GO:0046034, GO:0045214, GO:0043462, GO:0030239, GO:0030049, GO:0030049, GO:0014898, GO:0008217, GO:0008016, GO:0007522, GO:0007512, GO:0006941, GO:0006941, GO:0006936, GO:0006470, GO:0002027, GO:0002026, GO:0002026, GO:0001701, regulation of heart growth, cardiac muscle contraction, ventricular cardiac muscle tissue morphogenesis, atrial cardiac muscle tissue morphogenesis, cardiac muscle fiber development, ATP metabolic process, sarcomere organization, regulation of ATPase activity, myofibril assembly, muscle filament sliding, muscle filament sliding, cardiac muscle hypertrophy in response to stress, regulation of blood pressure, regulation of heart contraction, visceral muscle development, adult heart development, striated muscle contraction, striated muscle contraction, muscle contraction, protein dephosphorylation, regulation of heart rate, regulation of the force of heart contraction, regulation of the force of heart contraction, in utero embryonic development, 0 0 0 0 0 0 0 0 0 ENSG00000197617 chr1 247255972 247257210 + VN1R5 polymorphic_pseudogene 0 0 0 2 3 0 0 0 0 ENSG00000197619 chr19 51991332 52008230 - ZNF615 protein_coding 284370 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 74 72 103 67 72 62 81 59 54 ENSG00000197620 chrX 149540355 149550510 + CXorf40A protein_coding 91966 GO:0005515, protein binding, GO:0032675, GO:0010468, regulation of interleukin-6 production, regulation of gene expression, 78 93 105 246 156 227 209 104 174 ENSG00000197622 chr1 151050971 151070325 - CDC42SE1 protein_coding 56882 GO:0030054, GO:0005886, GO:0005856, GO:0005737, cell junction, plasma membrane, cytoskeleton, cytoplasm, GO:0031267, GO:0005095, small GTPase binding, GTPase inhibitor activity, GO:0035023, GO:0034260, GO:0008360, GO:0007165, GO:0006909, regulation of Rho protein signal transduction, negative regulation of GTPase activity, regulation of cell shape, signal transduction, phagocytosis, 12849 13246 17684 4957 8387 8424 6113 7339 7656 ENSG00000197627 chr15 84491480 84500599 - UBE2Q2P12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197629 chr11 59208510 59212951 - MPEG1 protein_coding 219972 GO:0045335, GO:0031410, GO:0030659, GO:0016021, GO:0005576, phagocytic vesicle, cytoplasmic vesicle, cytoplasmic vesicle membrane, integral component of membrane, extracellular region, GO:0050830, GO:0050830, GO:0050829, GO:0050829, GO:0045087, GO:0042742, GO:0042742, GO:0035915, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, innate immune response, defense response to bacterium, defense response to bacterium, pore formation in membrane of other organism, 5928 6657 8356 469 1419 908 684 1499 831 ENSG00000197632 chr18 63871692 63903890 + SERPINB2 protein_coding 5055 GO:0005886, GO:0005737, GO:0005615, GO:0005576, plasma membrane, cytoplasm, extracellular space, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0043066, GO:0042730, GO:0042060, GO:0035722, GO:0010951, negative regulation of apoptotic process, fibrinolysis, wound healing, interleukin-12-mediated signaling pathway, negative regulation of endopeptidase activity, 10 21 37 42 60 67 57 62 56 ENSG00000197635 chr2 161992241 162074542 - DPP4 protein_coding The DPP4 gene encodes dipeptidyl peptidase 4, which is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic type II transmembrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. Dipeptidyl peptidase 4 is highly involved in glucose and insulin metabolism, as well as in immune regulation. This protein was shown to be a functional receptor for Middle East respiratory syndrome coronavirus (MERS-CoV), and protein modeling suggests that it may play a similar role with SARS-CoV-2, the virus responsible for COVID-19. [provided by RefSeq, Apr 2020]. 1803 GO:0071438, GO:0070062, GO:0046581, GO:0045121, GO:0031258, GO:0030139, GO:0030027, GO:0016324, GO:0016021, GO:0016020, GO:0009986, GO:0005925, GO:0005886, GO:0005886, GO:0005765, GO:0005576, invadopodium membrane, extracellular exosome, intercellular canaliculus, membrane raft, lamellipodium membrane, endocytic vesicle, lamellipodium, apical plasma membrane, integral component of membrane, membrane, cell surface, focal adhesion, plasma membrane, plasma membrane, lysosomal membrane, extracellular region, GO:0045499, GO:0045499, GO:0042803, GO:0042802, GO:0008239, GO:0008236, GO:0005515, GO:0005102, GO:0004252, GO:0002020, GO:0001618, chemorepellent activity, chemorepellent activity, protein homodimerization activity, identical protein binding, dipeptidyl-peptidase activity, serine-type peptidase activity, protein binding, signaling receptor binding, serine-type endopeptidase activity, protease binding, virus receptor activity, GO:0090024, GO:0050919, GO:0050796, GO:0046718, GO:0043542, GO:0042110, GO:0036343, GO:0035641, GO:0033632, GO:0031295, GO:0010716, GO:0008284, GO:0007155, GO:0006508, GO:0001666, GO:0001662, negative regulation of neutrophil chemotaxis, negative chemotaxis, regulation of insulin secretion, viral entry into host cell, endothelial cell migration, T cell activation, psychomotor behavior, locomotory exploration behavior, regulation of cell-cell adhesion mediated by integrin, T cell costimulation, negative regulation of extracellular matrix disassembly, positive regulation of cell population proliferation, cell adhesion, proteolysis, response to hypoxia, behavioral fear response, 76 29 81 228 37 166 189 38 125 ENSG00000197641 chr18 63586989 63604639 + SERPINB13 protein_coding The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]. 5275 GO:0070062, GO:0043202, GO:0016607, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005615, extracellular exosome, lysosomal lumen, nuclear speck, cytosol, cytoplasm, nucleolus, nucleoplasm, extracellular space, GO:0005515, GO:0004869, GO:0004869, GO:0004867, GO:0004867, GO:0002020, protein binding, cysteine-type endopeptidase inhibitor activity, cysteine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, GO:1902173, GO:0045616, GO:0030162, GO:0010951, GO:0010951, GO:0009411, negative regulation of keratinocyte apoptotic process, regulation of keratinocyte differentiation, regulation of proteolysis, negative regulation of endopeptidase activity, negative regulation of endopeptidase activity, response to UV, 0 0 0 0 0 0 0 0 0 ENSG00000197644 chr2 29899597 29907199 + AC106870.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000197646 chr9 5510570 5571254 + PDCD1LG2 protein_coding 80380 GO:0016021, GO:0012505, GO:0009897, GO:0005886, GO:0005576, integral component of membrane, endomembrane system, external side of plasma membrane, plasma membrane, extracellular region, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0071222, GO:0046007, GO:0042130, GO:0042102, GO:0032693, GO:0032689, GO:0031295, GO:0031295, GO:0007166, GO:0006955, GO:0006955, GO:0002250, cellular response to lipopolysaccharide, negative regulation of activated T cell proliferation, negative regulation of T cell proliferation, positive regulation of T cell proliferation, negative regulation of interleukin-10 production, negative regulation of interferon-gamma production, T cell costimulation, T cell costimulation, cell surface receptor signaling pathway, immune response, immune response, adaptive immune response, 5 7 4 1 1 0 0 1 2 ENSG00000197647 chr19 12014732 12035741 - ZNF433 protein_coding 163059 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 5 3 4 3 8 10 15 5 11 ENSG00000197651 chr12 90905622 90955176 - CCER1 protein_coding 196477 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000197653 chr12 123762188 123936206 + DNAH10 protein_coding Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]. 196385 GO:0030286, GO:0005930, GO:0005874, dynein complex, axoneme, microtubule, GO:0051959, GO:0045505, GO:0008569, GO:0005524, dynein light intermediate chain binding, dynein intermediate chain binding, ATP-dependent microtubule motor activity, minus-end-directed, ATP binding, GO:0007018, microtubule-based movement, 6 0 5 0 3 0 1 2 0 ENSG00000197658 chr11 63079940 63144221 - SLC22A24 protein_coding SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]. 283238 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0035382, GO:0015711, GO:0008202, sterol transmembrane transport, organic anion transport, steroid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000197665 chr17 19155727 19159111 - AC007952.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000197670 chr20 53552770 53575863 + AL157838.1 antisense 124 84 244 43 68 69 56 52 40 ENSG00000197674 chr11 4690423 4697831 - OR51C1P protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000197683 chr21 30319124 30320316 - KRTAP26-1 protein_coding 388818 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000197692 chr11 89293745 89294246 - CBX3P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197694 chr9 128552558 128633662 + SPTAN1 protein_coding Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]. 6709 GO:1904724, GO:1903561, GO:0070062, GO:0043231, GO:0035580, GO:0016020, GO:0015630, GO:0008091, GO:0005829, GO:0005576, tertiary granule lumen, extracellular vesicle, extracellular exosome, intracellular membrane-bounded organelle, specific granule lumen, membrane, microtubule cytoskeleton, spectrin, cytosol, extracellular region, GO:0045296, GO:0005516, GO:0005515, GO:0005509, GO:0005200, GO:0003779, cadherin binding, calmodulin binding, protein binding, calcium ion binding, structural constituent of cytoskeleton, actin binding, GO:0051693, GO:0043312, GO:0007411, GO:0007010, GO:0006888, GO:0000165, actin filament capping, neutrophil degranulation, axon guidance, cytoskeleton organization, endoplasmic reticulum to Golgi vesicle-mediated transport, MAPK cascade, 644 687 1028 818 518 1015 834 395 745 ENSG00000197696 chr15 84655129 84658563 - NMB protein_coding This gene encodes a member of the bombesin-like family of neuropeptides, which negatively regulate eating behavior. The encoded protein may regulate colonic smooth muscle contraction through binding to its cognate receptor, the neuromedin B receptor (NMBR). Polymorphisms of this gene may be associated with hunger, weight gain and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 4828 GO:0043005, GO:0005576, neuron projection, extracellular region, GO:0031710, GO:0005515, GO:0005184, GO:0005179, neuromedin B receptor binding, protein binding, neuropeptide hormone activity, hormone activity, GO:0050482, GO:0046888, GO:0046887, GO:0042593, GO:0008284, GO:0007267, GO:0007218, GO:0007204, GO:0007186, GO:0007165, arachidonic acid secretion, negative regulation of hormone secretion, positive regulation of hormone secretion, glucose homeostasis, positive regulation of cell population proliferation, cell-cell signaling, neuropeptide signaling pathway, positive regulation of cytosolic calcium ion concentration, G protein-coupled receptor signaling pathway, signal transduction, 2 0 6 6 7 8 1 4 7 ENSG00000197702 chr11 12377185 12535356 + PARVA protein_coding This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010]. 55742 GO:0030027, GO:0030018, GO:0015629, GO:0005925, GO:0005925, GO:0005925, GO:0005886, GO:0005829, GO:0005737, GO:0005634, lamellipodium, Z disc, actin cytoskeleton, focal adhesion, focal adhesion, focal adhesion, plasma membrane, cytosol, cytoplasm, nucleus, GO:0045296, GO:0005515, GO:0004860, GO:0003779, cadherin binding, protein binding, protein kinase inhibitor activity, actin binding, GO:0071670, GO:0070252, GO:0060271, GO:0060271, GO:0050821, GO:0034446, GO:0034446, GO:0034113, GO:0031532, GO:0030031, GO:0008360, GO:0007163, GO:0007163, GO:0006469, GO:0003148, GO:0002040, smooth muscle cell chemotaxis, actin-mediated cell contraction, cilium assembly, cilium assembly, protein stabilization, substrate adhesion-dependent cell spreading, substrate adhesion-dependent cell spreading, heterotypic cell-cell adhesion, actin cytoskeleton reorganization, cell projection assembly, regulation of cell shape, establishment or maintenance of cell polarity, establishment or maintenance of cell polarity, negative regulation of protein kinase activity, outflow tract septum morphogenesis, sprouting angiogenesis, 1 0 0 0 0 0 1 2 5 ENSG00000197705 chr18 32672671 32773062 - KLHL14 protein_coding The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]. 57565 GO:0043025, GO:0043005, GO:0016235, GO:0015629, GO:0005829, GO:0005789, GO:0005783, GO:0005783, neuronal cell body, neuron projection, aggresome, actin cytoskeleton, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, 5 4 0 0 4 0 0 2 0 ENSG00000197706 chr12 55247198 55248302 + OR6C74 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 254783 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197712 chr4 38867677 38945739 + FAM114A1 protein_coding The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. 92689 GO:0005829, GO:0005794, GO:0005654, cytosol, Golgi apparatus, nucleoplasm, GO:0005515, protein binding, 20 31 34 19 33 37 37 28 26 ENSG00000197713 chr2 210002565 210022259 + RPE protein_coding 6120 GO:0070062, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, GO:0046872, GO:0046872, GO:0042803, GO:0042802, GO:0005515, GO:0004750, GO:0004750, metal ion binding, metal ion binding, protein homodimerization activity, identical protein binding, protein binding, ribulose-phosphate 3-epimerase activity, ribulose-phosphate 3-epimerase activity, GO:0044262, GO:0019323, GO:0009052, GO:0006098, GO:0006098, GO:0005975, cellular carbohydrate metabolic process, pentose catabolic process, pentose-phosphate shunt, non-oxidative branch, pentose-phosphate shunt, pentose-phosphate shunt, carbohydrate metabolic process, 27 32 53 35 48 32 38 31 55 ENSG00000197714 chr19 57280051 57293569 + ZNF460 protein_coding Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, May 2004]. 10794 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 118 102 119 39 115 101 60 68 82 ENSG00000197721 chr1 207645113 207738416 + CR1L protein_coding 1379 GO:0043235, GO:0016020, GO:0005737, GO:0005576, receptor complex, membrane, cytoplasm, extracellular region, GO:0005515, protein binding, GO:1903659, GO:0030449, regulation of complement-dependent cytotoxicity, regulation of complement activation, 11 5 19 7 0 4 7 5 10 ENSG00000197724 chr9 93576407 93679587 + PHF2 protein_coding This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]. 5253 GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000777, GO:0000776, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromatin, condensed chromosome kinetochore, kinetochore, GO:0051213, GO:0035064, GO:0032454, GO:0032452, GO:0008270, GO:0005515, GO:0005506, GO:0003713, GO:0003712, dioxygenase activity, methylated histone binding, histone demethylase activity (H3-K9 specific), histone demethylase activity, zinc ion binding, protein binding, iron ion binding, transcription coactivator activity, transcription coregulator activity, GO:0061188, GO:0055114, GO:0033169, GO:0006482, GO:0006482, GO:0006357, GO:0001889, negative regulation of ribosomal DNA heterochromatin assembly, oxidation-reduction process, histone H3-K9 demethylation, protein demethylation, protein demethylation, regulation of transcription by RNA polymerase II, liver development, 1167 1251 1397 609 929 781 619 740 730 ENSG00000197728 chr12 56041351 56044697 + RPS26 protein_coding This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]. 6231 GO:0098556, GO:0070062, GO:0042788, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0005829, GO:0005654, cytoplasmic side of rough endoplasmic reticulum membrane, extracellular exosome, polysomal ribosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, cytosol, nucleoplasm, GO:0045296, GO:0005515, GO:0003735, GO:0003729, GO:0003729, GO:0003723, cadherin binding, protein binding, structural constituent of ribosome, mRNA binding, mRNA binding, RNA binding, GO:0033119, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, negative regulation of RNA splicing, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 304 135 178 692 207 243 510 125 207 ENSG00000197734 chr14 77760830 77769742 + C14orf178 protein_coding 283579 58 59 58 27 19 24 9 11 16 ENSG00000197744 chr5 118973796 118974122 + PTMAP2 processed_pseudogene 4 10 7 9 5 7 8 3 5 ENSG00000197745 chr11 62296277 62299064 - SCGB1D4 protein_coding 404552 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000197746 chr10 71816298 71851375 - PSAP protein_coding This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. 5660 GO:0070062, GO:0062023, GO:0043231, GO:0043202, GO:0035577, GO:0016235, GO:0005886, GO:0005770, GO:0005765, GO:0005764, GO:0005764, GO:0005615, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, intracellular membrane-bounded organelle, lysosomal lumen, azurophil granule membrane, aggresome, plasma membrane, late endosome, lysosomal membrane, lysosome, lysosome, extracellular space, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:1905577, GO:1905576, GO:1905575, GO:1905574, GO:1905573, GO:0042803, GO:0030882, GO:0008289, GO:0008047, GO:0005543, GO:0005515, GO:0004565, GO:0002020, GO:0001664, ganglioside GP1c binding, ganglioside GT1b binding, ganglioside GM3 binding, ganglioside GM2 binding, ganglioside GM1 binding, protein homodimerization activity, lipid antigen binding, lipid binding, enzyme activator activity, phospholipid binding, protein binding, beta-galactosidase activity, protease binding, G protein-coupled receptor binding, GO:1905572, GO:1905146, GO:1903575, GO:1903206, GO:0090659, GO:0090102, GO:0071310, GO:0070841, GO:0060742, GO:0060736, GO:0060073, GO:0051345, GO:0050885, GO:0043410, GO:0043312, GO:0042552, GO:0021702, GO:0019882, GO:0019216, GO:0010506, GO:0009306, GO:0007605, GO:0007193, GO:0007186, GO:0007041, GO:0007041, GO:0006886, GO:0006869, GO:0006687, GO:0006683, GO:0006678, GO:0003335, GO:0002576, GO:0001865, ganglioside GM1 transport to membrane, lysosomal protein catabolic process, cornified envelope assembly, negative regulation of hydrogen peroxide-induced cell death, walking behavior, cochlea development, cellular response to organic substance, inclusion body assembly, epithelial cell differentiation involved in prostate gland development, prostate gland growth, micturition, positive regulation of hydrolase activity, neuromuscular process controlling balance, positive regulation of MAPK cascade, neutrophil degranulation, myelination, cerebellar Purkinje cell differentiation, antigen processing and presentation, regulation of lipid metabolic process, regulation of autophagy, protein secretion, sensory perception of sound, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, lysosomal transport, lysosomal transport, intracellular protein transport, lipid transport, glycosphingolipid metabolic process, galactosylceramide catabolic process, glucosylceramide metabolic process, corneocyte development, platelet degranulation, NK T cell differentiation, 17647 17306 23707 3971 8344 6257 5376 8220 5818 ENSG00000197747 chr1 151982915 151994390 - S100A10 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]. 6281 GO:1990665, GO:0070062, GO:0062023, GO:0045121, GO:0019897, GO:0005783, GO:0005737, GO:0005615, GO:0005576, AnxA2-p11 complex, extracellular exosome, collagen-containing extracellular matrix, membrane raft, extrinsic component of plasma membrane, endoplasmic reticulum, cytoplasm, extracellular space, extracellular region, GO:0048306, GO:0044325, GO:0044325, GO:0042803, GO:0008289, GO:0005515, GO:0005509, calcium-dependent protein binding, ion channel binding, ion channel binding, protein homodimerization activity, lipid binding, protein binding, calcium ion binding, GO:1900026, GO:0072659, GO:0051894, GO:0051496, GO:0051099, GO:0043547, GO:0042493, GO:0006900, GO:0001765, positive regulation of substrate adhesion-dependent cell spreading, protein localization to plasma membrane, positive regulation of focal adhesion assembly, positive regulation of stress fiber assembly, positive regulation of binding, positive regulation of GTPase activity, response to drug, vesicle budding from membrane, membrane raft assembly, 99 110 218 249 125 339 189 112 221 ENSG00000197748 chr10 104129888 104232362 - CFAP43 protein_coding This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]. 80217 GO:0097729, GO:0005930, GO:0005930, GO:0005576, 9+2 motile cilium, axoneme, axoneme, extracellular region, GO:0120197, GO:0090660, GO:0060271, GO:0007288, GO:0007288, GO:0007288, GO:0003356, mucociliary clearance, cerebrospinal fluid circulation, cilium assembly, sperm axoneme assembly, sperm axoneme assembly, sperm axoneme assembly, regulation of cilium beat frequency, 12 8 0 5 7 2 12 7 4 ENSG00000197753 chr6 35805293 35833874 + LHFPL5 protein_coding This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]. 222662 GO:0032426, GO:0016324, GO:0016021, GO:0016020, GO:0005886, stereocilium tip, apical plasma membrane, integral component of membrane, membrane, plasma membrane, GO:0005515, protein binding, GO:0060088, GO:0050974, GO:0050910, GO:0007605, GO:0006811, auditory receptor cell stereocilium organization, detection of mechanical stimulus involved in sensory perception, detection of mechanical stimulus involved in sensory perception of sound, sensory perception of sound, ion transport, 197 177 345 142 197 242 168 117 200 ENSG00000197756 chr2 216498189 216579180 + RPL37A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6168 GO:0070062, GO:0022625, GO:0005925, GO:0005829, GO:0005634, extracellular exosome, cytosolic large ribosomal subunit, focal adhesion, cytosol, nucleus, GO:0046872, GO:0005515, GO:0003735, GO:0003723, metal ion binding, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 569 385 754 1435 761 1432 1032 681 1021 ENSG00000197757 chr12 53990624 54030823 + HOXC6 protein_coding This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008]. 3223 GO:0005829, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleoplasm, nucleus, chromatin, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048706, GO:0009952, GO:0007275, GO:0006357, GO:0006357, embryonic skeletal system development, anterior/posterior pattern specification, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 1 0 0 0 0 0 0 ENSG00000197763 chr3 126571779 126655155 - TXNRD3 protein_coding The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes the third TrxR, which unlike the other two isozymes, contains an additional N-terminal glutaredoxin (Grx) domain, and shows highest expression in testis. The Grx domain allows this isozyme to participate in both Trx and glutathione systems. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. Experimental evidence suggests the use of a non-AUG (CUG) codon as a translation initiation codon (PMID:20018845). [provided by RefSeq, Aug 2017]. 114112 GO:0005829, GO:0005783, GO:0005739, GO:0005737, GO:0005654, cytosol, endoplasmic reticulum, mitochondrion, cytoplasm, nucleoplasm, GO:0050660, GO:0015035, GO:0009055, GO:0005515, GO:0004791, GO:0004791, flavin adenine dinucleotide binding, protein disulfide oxidoreductase activity, electron transfer activity, protein binding, thioredoxin-disulfide reductase activity, thioredoxin-disulfide reductase activity, GO:0098869, GO:0045454, GO:0045454, GO:0030154, GO:0022900, GO:0007283, GO:0007275, cellular oxidant detoxification, cell redox homeostasis, cell redox homeostasis, cell differentiation, electron transport chain, spermatogenesis, multicellular organism development, 0 1 2 1 1 0 0 0 3 ENSG00000197766 chr19 859643 863630 + CFD protein_coding This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]. 1675 GO:1904813, GO:0070062, GO:0034774, GO:0031093, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, platelet alpha granule lumen, extracellular region, GO:0008236, GO:0004252, serine-type peptidase activity, serine-type endopeptidase activity, GO:0043312, GO:0007219, GO:0006957, GO:0006956, GO:0006508, GO:0002576, neutrophil degranulation, Notch signaling pathway, complement activation, alternative pathway, complement activation, proteolysis, platelet degranulation, 4 5 5 81 0 0 1 2 10 ENSG00000197768 chr9 137251261 137253483 + STPG3 protein_coding 441476 GO:0005856, cytoskeleton, 1 5 2 1 2 8 0 1 2 ENSG00000197769 chr1 241995490 241999073 - MAP1LC3C protein_coding Autophagy is a highly regulated bulk degradation process that plays an important role in cellular maintenance and development. MAP1LC3C is an ortholog of the yeast autophagosome protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010]. 440738 GO:0036464, GO:0031410, GO:0031090, GO:0012505, GO:0005874, GO:0005829, GO:0005829, GO:0005776, GO:0005776, GO:0005776, GO:0000421, GO:0000421, cytoplasmic ribonucleoprotein granule, cytoplasmic vesicle, organelle membrane, endomembrane system, microtubule, cytosol, cytosol, autophagosome, autophagosome, autophagosome, autophagosome membrane, autophagosome membrane, GO:0031625, GO:0031625, GO:0008017, GO:0005515, ubiquitin protein ligase binding, ubiquitin protein ligase binding, microtubule binding, protein binding, GO:0097352, GO:0097352, GO:0097352, GO:0035973, GO:0032527, GO:0016236, GO:0016236, GO:0016236, GO:0009267, GO:0006995, GO:0000422, GO:0000045, autophagosome maturation, autophagosome maturation, autophagosome maturation, aggrephagy, protein exit from endoplasmic reticulum, macroautophagy, macroautophagy, macroautophagy, cellular response to starvation, cellular response to nitrogen starvation, autophagy of mitochondrion, autophagosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000197771 chr10 119829404 119892556 - MCMBP protein_coding This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 79892 GO:0042555, GO:0030054, GO:0005829, GO:0005654, GO:0005634, GO:0000785, MCM complex, cell junction, cytosol, nucleoplasm, nucleus, chromatin, GO:0005515, GO:0003682, GO:0003682, protein binding, chromatin binding, chromatin binding, GO:0051301, GO:0007062, GO:0006261, GO:0006261, cell division, sister chromatid cohesion, DNA-dependent DNA replication, DNA-dependent DNA replication, 493 323 476 286 318 262 306 275 279 ENSG00000197774 chr16 1773207 1781708 + EME2 protein_coding EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]. 197342 GO:0048476, GO:0000785, Holliday junction resolvase complex, chromatin, GO:0005515, GO:0004519, GO:0003677, protein binding, endonuclease activity, DNA binding, GO:0090305, GO:0031573, GO:0031297, GO:0006302, GO:0000712, nucleic acid phosphodiester bond hydrolysis, intra-S DNA damage checkpoint, replication fork processing, double-strand break repair, resolution of meiotic recombination intermediates, 488 580 654 742 927 952 722 703 737 ENSG00000197776 chr14 49693105 49753152 + KLHDC1 protein_coding 122773 GO:0005829, cytosol, 5 2 6 11 6 15 2 0 16 ENSG00000197779 chrX 47836902 48002561 + ZNF81 protein_coding This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017]. 347344 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 142 160 191 142 201 184 198 152 168 ENSG00000197780 chr1 109062486 109076002 - TAF13 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008]. 6884 GO:0005730, GO:0005669, GO:0005669, GO:0005669, GO:0005654, GO:0005654, nucleolus, transcription factor TFIID complex, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, GO:0046982, GO:0017025, GO:0016251, GO:0008022, GO:0005515, GO:0003677, protein heterodimerization activity, TBP-class protein binding, RNA polymerase II general transcription initiation factor activity, protein C-terminus binding, protein binding, DNA binding, GO:1901796, GO:0042795, GO:0006367, GO:0006367, GO:0006366, GO:0006366, GO:0006366, GO:0006352, regulation of signal transduction by p53 class mediator, snRNA transcription by RNA polymerase II, transcription initiation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, transcription by RNA polymerase II, DNA-templated transcription, initiation, 510 435 572 334 335 408 309 296 282 ENSG00000197782 chr19 40069152 40090938 - ZNF780A protein_coding 284323 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 99 85 135 66 66 125 100 42 74 ENSG00000197785 chr1 1512151 1534687 + ATAD3A protein_coding This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. 55210 GO:0042645, GO:0016021, GO:0005743, GO:0005739, GO:0005739, mitochondrial nucleoid, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0016887, GO:0008270, GO:0005524, GO:0005515, ATPase activity, zinc ion binding, ATP binding, protein binding, GO:0140374, GO:0043066, GO:0007005, GO:0001558, antiviral innate immune response, negative regulation of apoptotic process, mitochondrion organization, regulation of cell growth, 26 9 22 42 23 15 44 7 26 ENSG00000197786 chr11 58358124 58359069 - OR5B17 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219965 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197790 chr11 4545191 4546144 + OR52M1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119772 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 1 0 0 0 0 4 0 0 0 ENSG00000197794 chr2 88915081 88915378 - IGKV7-3 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197798 chr11 126211414 126262986 + FAM118B protein_coding 79607 GO:0015030, Cajal body, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0030576, Cajal body organization, 43 27 50 43 48 31 26 23 26 ENSG00000197808 chr19 36637192 36666853 - ZNF461 protein_coding 92283 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 8 4 6 9 16 18 5 5 ENSG00000197813 chr19 49331617 49340303 - AC011450.1 lincRNA 378 405 568 373 609 508 445 522 386 ENSG00000197815 chr17 17858227 17860041 + AC122129.1 antisense 83 71 60 40 72 46 52 47 56 ENSG00000197816 chr9 97307304 97378524 + CCDC180 protein_coding The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]. 100499483 GO:0070062, extracellular exosome, 0 3 6 2 1 11 1 5 6 ENSG00000197818 chr20 49812713 49892242 + SLC9A8 protein_coding Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]. 23315 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0015386, GO:0015385, GO:0005515, potassium:proton antiporter activity, sodium:proton antiporter activity, protein binding, GO:1902600, GO:0098656, GO:0071805, GO:0051453, GO:0035725, GO:0006811, proton transmembrane transport, anion transmembrane transport, potassium ion transmembrane transport, regulation of intracellular pH, sodium ion transmembrane transport, ion transport, 1606 1243 2109 1939 1887 2146 1990 1177 1757 ENSG00000197822 chr5 69492292 69558104 + OCLN protein_coding This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]. 100506658 GO:0070160, GO:0070160, GO:0032991, GO:0031410, GO:0031252, GO:0030139, GO:0030054, GO:0030054, GO:0016328, GO:0016327, GO:0016324, GO:0016021, GO:0005923, GO:0005911, GO:0005886, GO:0005886, GO:0005765, tight junction, tight junction, protein-containing complex, cytoplasmic vesicle, cell leading edge, endocytic vesicle, cell junction, cell junction, lateral plasma membrane, apicolateral plasma membrane, apical plasma membrane, integral component of membrane, bicellular tight junction, cell-cell junction, plasma membrane, plasma membrane, lysosomal membrane, GO:0019904, GO:0005515, protein domain specific binding, protein binding, GO:2000810, GO:1905605, GO:1902463, GO:0090303, GO:0071356, GO:0070830, GO:0070673, GO:0065003, GO:0046326, GO:0045216, GO:0035633, GO:0031116, GO:0010827, GO:0010629, GO:0010628, GO:0010592, GO:0001933, regulation of bicellular tight junction assembly, positive regulation of blood-brain barrier permeability, protein localization to cell leading edge, positive regulation of wound healing, cellular response to tumor necrosis factor, bicellular tight junction assembly, response to interleukin-18, protein-containing complex assembly, positive regulation of glucose import, cell-cell junction organization, maintenance of blood-brain barrier, positive regulation of microtubule polymerization, regulation of glucose transmembrane transport, negative regulation of gene expression, positive regulation of gene expression, positive regulation of lamellipodium assembly, negative regulation of protein phosphorylation, 0 3 0 0 0 0 0 0 0 ENSG00000197826 chr4 80335720 80963756 + CFAP299 protein_coding 255119 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000197837 chr12 14767999 14771131 - HIST4H4 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq, Aug 2015]. 121504 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 34 57 29 49 103 90 88 95 78 ENSG00000197838 chr19 41088472 41096195 + CYP2A13 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]. 1553 GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0070330, GO:0020037, GO:0020037, GO:0016712, GO:0008395, GO:0008392, GO:0005506, GO:0004497, aromatase activity, heme binding, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, arachidonic acid epoxygenase activity, iron ion binding, monooxygenase activity, GO:0055114, GO:0042738, GO:0019373, GO:0009804, GO:0009804, GO:0006805, GO:0006805, GO:0006082, oxidation-reduction process, exogenous drug catabolic process, epoxygenase P450 pathway, coumarin metabolic process, coumarin metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000197841 chr19 34734155 34745378 + ZNF181 protein_coding Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2003]. 339318 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 9 28 32 15 35 18 8 18 ENSG00000197847 chr11 65213840 65242757 + SLC22A20P transcribed_unitary_pseudogene 1 8 2 1 7 13 6 6 10 ENSG00000197849 chr11 124241095 124254364 + OR8G1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This family member represents a polymorphic pseudogene, whereby some individuals have a functional allele that encodes a full-length protein, while others have a non-functional allele due to the presence of an early stop codon and a 3' end deletion. [provided by RefSeq, Feb 2014]. 26494 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 4 0 0 0 0 ENSG00000197852 chr1 111680630 111739424 - INKA2 protein_coding 55924 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0030291, GO:0030291, GO:0019901, GO:0019901, protein serine/threonine kinase inhibitor activity, protein serine/threonine kinase inhibitor activity, protein kinase binding, protein kinase binding, GO:0071901, negative regulation of protein serine/threonine kinase activity, 33 26 29 15 27 24 21 38 33 ENSG00000197857 chr19 12224686 12294887 - ZNF44 protein_coding 51710 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 517 313 593 625 399 732 655 230 609 ENSG00000197858 chr8 144082590 144086216 + GPAA1 protein_coding Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]. 8733 GO:0042765, GO:0042765, GO:0042765, GO:0016020, GO:0005789, GPI-anchor transamidase complex, GPI-anchor transamidase complex, GPI-anchor transamidase complex, membrane, endoplasmic reticulum membrane, GO:0034235, GO:0015631, GO:0005515, GO:0003923, GPI anchor binding, tubulin binding, protein binding, GPI-anchor transamidase activity, GO:0065003, GO:0016255, GO:0016255, GO:0016255, GO:0006621, GO:0006508, protein-containing complex assembly, attachment of GPI anchor to protein, attachment of GPI anchor to protein, attachment of GPI anchor to protein, protein retention in ER lumen, proteolysis, 95 117 168 113 111 97 74 88 161 ENSG00000197859 chr9 133532164 133575519 + ADAMTSL2 protein_coding This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]. 9719 GO:0031012, extracellular matrix, GO:0050436, GO:0005515, GO:0004222, microfibril binding, protein binding, metalloendopeptidase activity, GO:0060481, GO:0030512, GO:0030198, GO:0006508, lobar bronchus epithelium development, negative regulation of transforming growth factor beta receptor signaling pathway, extracellular matrix organization, proteolysis, 0 0 1 0 0 0 3 0 0 ENSG00000197860 chr5 65665928 65723035 - SGTB protein_coding 54557 GO:0072380, GO:0016020, TRC complex, membrane, GO:0060090, GO:0005515, molecular adaptor activity, protein binding, GO:1903646, GO:0030433, GO:0006620, positive regulation of chaperone-mediated protein folding, ubiquitin-dependent ERAD pathway, posttranslational protein targeting to endoplasmic reticulum membrane, 359 263 537 256 171 208 282 153 287 ENSG00000197863 chr19 36817428 36850787 - ZNF790 protein_coding 388536 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 8 4 16 10 3 3 19 3 18 ENSG00000197866 chr11 56628932 56629860 + OR5M12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197870 chr12 11265924 11269805 - PRB3 protein_coding This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the 'Long' allele. The protein isoforms encoded by this gene are recognized as the 'first line of oral defense' against the detrimental effects of polyphenols in the diet and pathogen infections. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Nov 2015]. 5544 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0050829, GO:0008150, defense response to Gram-negative bacterium, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000197872 chr2 16549459 16666331 - FAM49A protein_coding 81553 GO:0016020, GO:0005575, membrane, cellular_component, GO:0031267, GO:0003674, small GTPase binding, molecular_function, GO:0030833, GO:0008150, regulation of actin filament polymerization, biological_process, 1413 1436 1651 1041 1707 1354 1176 1238 1222 ENSG00000197879 chr17 1464186 1492812 - MYO1C protein_coding This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]. 4641 GO:0070062, GO:0060171, GO:0045335, GO:0045121, GO:0032587, GO:0031982, GO:0031941, GO:0030659, GO:0016604, GO:0016461, GO:0016328, GO:0016020, GO:0016020, GO:0015629, GO:0009925, GO:0005903, GO:0005902, GO:0005902, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005643, GO:0001725, extracellular exosome, stereocilium membrane, phagocytic vesicle, membrane raft, ruffle membrane, vesicle, filamentous actin, cytoplasmic vesicle membrane, nuclear body, unconventional myosin complex, lateral plasma membrane, membrane, membrane, actin cytoskeleton, basal plasma membrane, brush border, microvillus, microvillus, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nuclear pore, stress fiber, GO:0051015, GO:0031267, GO:0030898, GO:0008022, GO:0005524, GO:0005516, GO:0005515, GO:0005102, GO:0000146, actin filament binding, small GTPase binding, actin-dependent ATPase activity, protein C-terminus binding, ATP binding, calmodulin binding, protein binding, signaling receptor binding, microfilament motor activity, GO:2000810, GO:1900748, GO:1900078, GO:0090314, GO:0071346, GO:0051028, GO:0045815, GO:0038096, GO:0038089, GO:0030838, GO:0030335, GO:0030050, GO:0007015, GO:0006612, GO:0006605, regulation of bicellular tight junction assembly, positive regulation of vascular endothelial growth factor signaling pathway, positive regulation of cellular response to insulin stimulus, positive regulation of protein targeting to membrane, cellular response to interferon-gamma, mRNA transport, positive regulation of gene expression, epigenetic, Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of cell migration by vascular endothelial growth factor signaling pathway, positive regulation of actin filament polymerization, positive regulation of cell migration, vesicle transport along actin filament, actin filament organization, protein targeting to membrane, protein targeting, 37 39 63 55 34 86 48 30 54 ENSG00000197880 chr1 23581495 23640568 + MDS2 lincRNA 259283 GO:0005615, extracellular space, 1 2 0 16 0 10 15 0 13 ENSG00000197882 chr11 86832540 86833449 - OR7E13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197885 chr3 23891660 23946591 - NKIRAS1 protein_coding 28512 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0007249, I-kappaB kinase/NF-kappaB signaling, 30 31 29 26 32 43 30 37 31 ENSG00000197887 chr11 58203202 58204181 - OR1S2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219958 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197888 chr4 68537184 68568527 - UGT2B17 protein_coding This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]. 7367 GO:0043231, GO:0016021, GO:0016020, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0015020, GO:0008194, GO:0001972, glucuronosyltransferase activity, UDP-glycosyltransferase activity, retinoic acid binding, GO:0052695, GO:0008202, cellular glucuronidation, steroid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000197889 chr10 14959439 14988050 + MEIG1 protein_coding 644890 GO:0005634, nucleus, GO:0005515, protein binding, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 4 0 0 0 0 0 0 ENSG00000197891 chr11 64590641 64602353 + SLC22A12 protein_coding The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. 116085 GO:0070062, GO:0031526, GO:0031526, GO:0016324, GO:0016021, GO:0005886, GO:0005886, extracellular exosome, brush border membrane, brush border membrane, apical plasma membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0030165, GO:0015143, GO:0015143, PDZ domain binding, urate transmembrane transporter activity, urate transmembrane transporter activity, GO:0055085, GO:0046415, GO:0042493, GO:0019725, GO:0015747, GO:0015711, transmembrane transport, urate metabolic process, response to drug, cellular homeostasis, urate transport, organic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000197892 chr8 29067279 29263124 - KIF13B protein_coding 23303 GO:0030424, GO:0005874, GO:0005871, GO:0005737, axon, microtubule, kinesin complex, cytoplasm, GO:0071889, GO:0019901, GO:0016887, GO:0008017, GO:0005524, GO:0005515, GO:0003777, GO:0003777, 14-3-3 protein binding, protein kinase binding, ATPase activity, microtubule binding, ATP binding, protein binding, microtubule motor activity, microtubule motor activity, GO:0050770, GO:0042110, GO:0007165, GO:0007018, GO:0007018, GO:0006605, regulation of axonogenesis, T cell activation, signal transduction, microtubule-based movement, microtubule-based movement, protein targeting, 101 123 141 80 89 127 83 63 82 ENSG00000197893 chr10 113588716 113664127 - NRAP protein_coding 4892 GO:0030018, GO:0005927, GO:0005916, Z disc, muscle tendon junction, fascia adherens, GO:0051371, GO:0051015, GO:0046872, GO:0005515, GO:0003779, GO:0003779, muscle alpha-actinin binding, actin filament binding, metal ion binding, protein binding, actin binding, actin binding, GO:0071691, GO:0048747, GO:0008150, cardiac muscle thin filament assembly, muscle fiber development, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000197894 chr4 99070978 99088801 - ADH5 protein_coding This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]. 128 GO:0070062, GO:0005829, GO:0005829, GO:0005739, extracellular exosome, cytosol, cytosol, mitochondrion, GO:0106322, GO:0106321, GO:0051903, GO:0051903, GO:0042802, GO:0018467, GO:0009055, GO:0008270, GO:0008270, GO:0005504, GO:0004024, S-(hydroxymethyl)glutathione dehydrogenase NAD activity, S-(hydroxymethyl)glutathione dehydrogenase NADP activity, S-(hydroxymethyl)glutathione dehydrogenase activity, S-(hydroxymethyl)glutathione dehydrogenase activity, identical protein binding, formaldehyde dehydrogenase activity, electron transfer activity, zinc ion binding, zinc ion binding, fatty acid binding, alcohol dehydrogenase activity, zinc-dependent, GO:0051775, GO:0051409, GO:0046294, GO:0045777, GO:0032496, GO:0022900, GO:0018119, GO:0010430, GO:0006069, GO:0003016, GO:0001523, response to redox state, response to nitrosative stress, formaldehyde catabolic process, positive regulation of blood pressure, response to lipopolysaccharide, electron transport chain, peptidyl-cysteine S-nitrosylation, fatty acid omega-oxidation, ethanol oxidation, respiratory system process, retinoid metabolic process, 32 30 46 95 39 131 69 45 98 ENSG00000197901 chr11 62936385 62984983 - SLC22A6 protein_coding The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 9356 GO:0070062, GO:0032991, GO:0016323, GO:0005901, GO:0005887, GO:0005886, extracellular exosome, protein-containing complex, basolateral plasma membrane, caveola, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0031404, GO:0015347, GO:0015301, GO:0008514, GO:0008514, GO:0005515, GO:0005452, identical protein binding, chloride ion binding, sodium-independent organic anion transmembrane transporter activity, anion:anion antiporter activity, organic anion transmembrane transporter activity, organic anion transmembrane transporter activity, protein binding, inorganic anion exchanger activity, GO:0098656, GO:0097254, GO:0097254, GO:0043252, GO:0031427, GO:0015742, GO:0015711, GO:0015711, GO:0015711, GO:0015698, anion transmembrane transport, renal tubular secretion, renal tubular secretion, sodium-independent organic anion transport, response to methotrexate, alpha-ketoglutarate transport, organic anion transport, organic anion transport, organic anion transport, inorganic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000197903 chr6 27146418 27146798 - HIST1H2BK protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family. The protein encoded is an antimicrobial protein with antibacterial and antifungal activity. Two transcripts that encode the same protein have been identified for this gene, which is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]. 85236 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0000786, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular space, nucleosome, GO:0046982, GO:0005515, GO:0003677, GO:0003674, protein heterodimerization activity, protein binding, DNA binding, molecular_function, GO:0061844, GO:0050830, GO:0050829, GO:0031640, GO:0019731, GO:0016567, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, killing of cells of other organism, antibacterial humoral response, protein ubiquitination, nucleosome assembly, innate immune response in mucosa, 375 425 639 122 218 220 125 248 194 ENSG00000197905 chr12 2959330 3040673 + TEAD4 protein_coding This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]. 7004 GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048568, GO:0035329, GO:0035329, GO:0007517, GO:0006367, GO:0006357, GO:0006357, GO:0001501, embryonic organ development, hippo signaling, hippo signaling, muscle organ development, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, skeletal system development, 0 0 0 2 0 0 0 0 0 ENSG00000197912 chr16 89490719 89557768 + SPG7 protein_coding This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]. 6687 GO:1904115, GO:0005757, GO:0005745, GO:0005743, GO:0005743, GO:0005743, axon cytoplasm, mitochondrial permeability transition pore complex, m-AAA complex, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, GO:0051082, GO:0008270, GO:0008233, GO:0005524, GO:0005515, GO:0004222, GO:0004176, unfolded protein binding, zinc ion binding, peptidase activity, ATP binding, protein binding, metalloendopeptidase activity, ATP-dependent peptidase activity, GO:1902686, GO:0065003, GO:0046902, GO:0042407, GO:0034982, GO:0008089, GO:0008053, GO:0007399, GO:0006851, GO:0006508, mitochondrial outer membrane permeabilization involved in programmed cell death, protein-containing complex assembly, regulation of mitochondrial membrane permeability, cristae formation, mitochondrial protein processing, anterograde axonal transport, mitochondrial fusion, nervous system development, mitochondrial calcium ion transmembrane transport, proteolysis, 541 690 686 731 983 921 657 600 603 ENSG00000197915 chr1 152212082 152224193 - HRNR protein_coding 388697 GO:0070062, GO:0062023, GO:0048471, GO:0036457, GO:0036457, GO:0035578, GO:0005737, GO:0005634, GO:0005576, GO:0001533, GO:0001533, extracellular exosome, collagen-containing extracellular matrix, perinuclear region of cytoplasm, keratohyalin granule, keratohyalin granule, azurophil granule lumen, cytoplasm, nucleus, extracellular region, cornified envelope, cornified envelope, GO:0046914, GO:0005509, transition metal ion binding, calcium ion binding, GO:0061436, GO:0061436, GO:0043312, GO:0043163, GO:0031424, establishment of skin barrier, establishment of skin barrier, neutrophil degranulation, cell envelope organization, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000197919 chr9 21440454 21441316 + IFNA1 protein_coding This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded cytokine is a member of the type I interferon family that is produced in response to viral infection as a key part of the innate immune response with potent antiviral, antiproliferative and immunomodulatory properties. This cytokine, like other type I interferons, binds a plasma membrane receptor made of IFNAR1 and IFNAR2 that is ubiquitously expressed, and thus is able to act on virtually all body cells. This cytokine is upregulated in preeclamptic placentas and is thought to be a mediator of preeclampsia. [provided by RefSeq, Aug 2020]. 3439 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005132, GO:0005125, protein binding, type I interferon receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000197921 chr1 2528745 2530245 - HES5 protein_coding This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]. 388585 GO:0005654, GO:0005634, GO:0005575, GO:0000785, nucleoplasm, nucleus, cellular_component, chromatin, GO:1990837, GO:0046983, GO:0008134, GO:0003682, GO:0001227, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, transcription factor binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000978, GO:2000974, GO:2000737, GO:0097150, GO:0090162, GO:0072282, GO:0072086, GO:0072050, GO:0072049, GO:0065003, GO:0060122, GO:0051216, GO:0050767, GO:0050767, GO:0050678, GO:0048715, GO:0048712, GO:0048708, GO:0048661, GO:0048469, GO:0046427, GO:0045944, GO:0045893, GO:0045747, GO:0045665, GO:0045608, GO:0045595, GO:0043010, GO:0042531, GO:0031641, GO:0030513, GO:0022010, GO:0021915, GO:0021861, GO:0021781, GO:0021537, GO:0014003, GO:0009952, GO:0008284, GO:0007420, GO:0007224, GO:0007219, GO:0007219, GO:0007155, GO:0006357, GO:0002062, GO:0000122, negative regulation of forebrain neuron differentiation, negative regulation of pro-B cell differentiation, negative regulation of stem cell differentiation, neuronal stem cell population maintenance, establishment of epithelial cell polarity, metanephric nephron tubule morphogenesis, specification of loop of Henle identity, S-shaped body morphogenesis, comma-shaped body morphogenesis, protein-containing complex assembly, inner ear receptor cell stereocilium organization, cartilage development, regulation of neurogenesis, regulation of neurogenesis, regulation of epithelial cell proliferation, negative regulation of oligodendrocyte differentiation, negative regulation of astrocyte differentiation, astrocyte differentiation, positive regulation of smooth muscle cell proliferation, cell maturation, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, negative regulation of neuron differentiation, negative regulation of inner ear auditory receptor cell differentiation, regulation of cell differentiation, camera-type eye development, positive regulation of tyrosine phosphorylation of STAT protein, regulation of myelination, positive regulation of BMP signaling pathway, central nervous system myelination, neural tube development, forebrain radial glial cell differentiation, glial cell fate commitment, telencephalon development, oligodendrocyte development, anterior/posterior pattern specification, positive regulation of cell population proliferation, brain development, smoothened signaling pathway, Notch signaling pathway, Notch signaling pathway, cell adhesion, regulation of transcription by RNA polymerase II, chondrocyte differentiation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000197927 chr2 131722375 131767404 + C2orf27A transcribed_unprocessed_pseudogene 0 0 0 0 0 4 0 0 1 ENSG00000197928 chr19 53235381 53254898 - ZNF677 protein_coding 342926 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 18 9 26 15 12 10 21 8 17 ENSG00000197930 chr14 52639916 52695900 - ERO1A protein_coding 30001 GO:0043231, GO:0030425, GO:0016020, GO:0005789, GO:0005788, GO:0005783, intracellular membrane-bounded organelle, dendrite, membrane, endoplasmic reticulum membrane, endoplasmic reticulum lumen, endoplasmic reticulum, GO:0016671, GO:0016491, GO:0015035, GO:0005515, GO:0003756, oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor, oxidoreductase activity, protein disulfide oxidoreductase activity, protein binding, protein disulfide isomerase activity, GO:0071456, GO:0070059, GO:0055114, GO:0051209, GO:0051085, GO:0050873, GO:0045454, GO:0034976, GO:0034975, GO:0034599, GO:0030968, GO:0030198, GO:0022417, GO:0018401, GO:0010260, GO:0009266, GO:0006464, GO:0006457, cellular response to hypoxia, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, oxidation-reduction process, release of sequestered calcium ion into cytosol, chaperone cofactor-dependent protein refolding, brown fat cell differentiation, cell redox homeostasis, response to endoplasmic reticulum stress, protein folding in endoplasmic reticulum, cellular response to oxidative stress, endoplasmic reticulum unfolded protein response, extracellular matrix organization, protein maturation by protein folding, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, animal organ senescence, response to temperature stimulus, cellular protein modification process, protein folding, 827 961 1017 369 707 656 479 625 530 ENSG00000197933 chr19 11721265 11739009 - ZNF823 protein_coding 55552 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2 2 9 3 2 0 0 2 4 ENSG00000197934 chr21 26393635 26569252 + CYYR1-AS1 antisense 100996571 0 0 0 2 0 0 0 0 0 ENSG00000197935 chr6 28994785 29005316 - ZNF311 protein_coding 282890 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000197937 chr19 53124072 53159075 - ZNF347 protein_coding 84671 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 39 16 26 62 17 14 22 14 6 ENSG00000197938 chr3 98282888 98283832 + OR5H2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79310 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000197943 chr16 81739097 81962693 + PLCG2 protein_coding The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]. 5336 GO:0070062, GO:0005886, GO:0005886, GO:0005829, extracellular exosome, plasma membrane, plasma membrane, cytosol, GO:0140031, GO:0005515, GO:0004629, GO:0004435, GO:0004435, GO:0001784, phosphorylation-dependent protein binding, protein binding, phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphatidylinositol phospholipase C activity, phosphotyrosine residue binding, GO:0051209, GO:0050853, GO:0050852, GO:0043647, GO:0043069, GO:0038096, GO:0038095, GO:0032959, GO:0032496, GO:0032481, GO:0032237, GO:0030183, GO:0030168, GO:0019722, GO:0016055, GO:0010634, GO:0009395, GO:0006661, GO:0002316, GO:0002223, GO:0002092, release of sequestered calcium ion into cytosol, B cell receptor signaling pathway, T cell receptor signaling pathway, inositol phosphate metabolic process, negative regulation of programmed cell death, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, inositol trisphosphate biosynthetic process, response to lipopolysaccharide, positive regulation of type I interferon production, activation of store-operated calcium channel activity, B cell differentiation, platelet activation, calcium-mediated signaling, Wnt signaling pathway, positive regulation of epithelial cell migration, phospholipid catabolic process, phosphatidylinositol biosynthetic process, follicular B cell differentiation, stimulatory C-type lectin receptor signaling pathway, positive regulation of receptor internalization, 3442 3607 4354 2302 3399 3151 2580 2655 2778 ENSG00000197948 chr5 141639302 141651419 - FCHSD1 protein_coding 89848 GO:0055037, GO:0043204, GO:0042995, GO:0032437, GO:0031594, recycling endosome, perikaryon, cell projection, cuticular plate, neuromuscular junction, GO:0008289, lipid binding, GO:0044803, GO:0030838, GO:0030833, GO:0007274, multi-organism membrane organization, positive regulation of actin filament polymerization, regulation of actin filament polymerization, neuromuscular synaptic transmission, 817 934 1055 1181 1315 1705 1253 902 1335 ENSG00000197951 chr19 56595264 56626481 + ZNF71 protein_coding 58491 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 2 9 4 12 7 11 11 12 4 ENSG00000197953 chr3 151733916 151761339 + AADACL2 protein_coding 344752 GO:0016021, GO:0005576, integral component of membrane, extracellular region, GO:0052689, GO:0016787, carboxylic ester hydrolase activity, hydrolase activity, 0 0 0 0 0 0 0 0 0 ENSG00000197956 chr1 153534599 153536244 - S100A6 protein_coding The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]. 6277 GO:0070062, GO:0062023, GO:0048471, GO:0048471, GO:0031234, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005635, GO:0005635, GO:0005634, GO:0005634, GO:0005576, GO:0001726, extracellular exosome, collagen-containing extracellular matrix, perinuclear region of cytoplasm, perinuclear region of cytoplasm, extrinsic component of cytoplasmic side of plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nuclear envelope, nuclear envelope, nucleus, nucleus, extracellular region, ruffle, GO:0048306, GO:0048306, GO:0044548, GO:0044548, GO:0042803, GO:0042803, GO:0015075, GO:0008270, GO:0005523, GO:0005515, GO:0005509, GO:0005509, GO:0005509, calcium-dependent protein binding, calcium-dependent protein binding, S100 protein binding, S100 protein binding, protein homodimerization activity, protein homodimerization activity, ion transmembrane transporter activity, zinc ion binding, tropomyosin binding, protein binding, calcium ion binding, calcium ion binding, calcium ion binding, GO:0048146, GO:0034220, GO:0007409, GO:0007165, positive regulation of fibroblast proliferation, ion transmembrane transport, axonogenesis, signal transduction, 4963 4034 6569 1460 3073 2963 2162 3367 3050 ENSG00000197958 chr9 127447674 127451405 - RPL12 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6136 GO:0070062, GO:0022625, GO:0022625, GO:0016020, GO:0015934, GO:0014069, GO:0014069, GO:0005925, GO:0005829, GO:0005730, extracellular exosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, large ribosomal subunit, postsynaptic density, postsynaptic density, focal adhesion, cytosol, nucleolus, GO:0070180, GO:0005515, GO:0003735, GO:0003735, GO:0003723, large ribosomal subunit rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0000184, GO:0000027, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal large subunit assembly, 687 395 1212 1831 787 2367 1293 696 1711 ENSG00000197959 chr1 171841498 172418466 + DNM3 protein_coding This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 26052 GO:0098978, GO:0098844, GO:0098793, GO:0070062, GO:0061829, GO:0061828, GO:0048471, GO:0044327, GO:0043197, GO:0043083, GO:0031966, GO:0031410, GO:0030424, GO:0016020, GO:0015630, GO:0014069, GO:0014069, GO:0005886, GO:0005874, GO:0005794, GO:0005737, GO:0001917, glutamatergic synapse, postsynaptic endocytic zone membrane, presynapse, extracellular exosome, basal tubulobulbar complex, apical tubulobulbar complex, perinuclear region of cytoplasm, dendritic spine head, dendritic spine, synaptic cleft, mitochondrial membrane, cytoplasmic vesicle, axon, membrane, microtubule cytoskeleton, postsynaptic density, postsynaptic density, plasma membrane, microtubule, Golgi apparatus, cytoplasm, photoreceptor inner segment, GO:0099186, GO:0050998, GO:0031802, GO:0031798, GO:0008017, GO:0005525, GO:0005515, GO:0003924, GO:0003924, structural constituent of postsynapse, nitric-oxide synthase binding, type 5 metabotropic glutamate receptor binding, type 1 metabotropic glutamate receptor binding, microtubule binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1903423, GO:0099173, GO:0098884, GO:0061025, GO:0061002, GO:0051491, GO:0050803, GO:0048285, GO:0046847, GO:0031623, GO:0016185, GO:0007416, GO:0006897, GO:0003374, GO:0000266, positive regulation of synaptic vesicle recycling, postsynapse organization, postsynaptic neurotransmitter receptor internalization, membrane fusion, negative regulation of dendritic spine morphogenesis, positive regulation of filopodium assembly, regulation of synapse structure or activity, organelle fission, filopodium assembly, receptor internalization, synaptic vesicle budding from presynaptic endocytic zone membrane, synapse assembly, endocytosis, dynamin family protein polymerization involved in mitochondrial fission, mitochondrial fission, 5 2 8 2 10 23 6 0 4 ENSG00000197961 chr19 9560353 9584533 - ZNF121 protein_coding 7675 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 58 48 102 224 52 171 115 30 104 ENSG00000197965 chr1 167721192 167791919 + MPZL1 protein_coding 9019 GO:0009986, GO:0005925, GO:0005887, cell surface, focal adhesion, integral component of plasma membrane, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0007267, GO:0007169, cell-cell signaling, transmembrane receptor protein tyrosine kinase signaling pathway, 1575 1748 1437 483 1209 604 494 1113 538 ENSG00000197969 chr9 77177353 77421541 + VPS13A protein_coding The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 23230 GO:0099013, GO:0097225, GO:0031966, GO:0019898, GO:0019898, GO:0010008, GO:0005829, GO:0005811, GO:0005794, GO:0005789, GO:0005765, GO:0005741, neuronal dense core vesicle lumen, sperm midpiece, mitochondrial membrane, extrinsic component of membrane, extrinsic component of membrane, endosome membrane, cytosol, lipid droplet, Golgi apparatus, endoplasmic reticulum membrane, lysosomal membrane, mitochondrial outer membrane, GO:0005515, protein binding, GO:1905146, GO:0045053, GO:0035176, GO:0030382, GO:0030317, GO:0008104, GO:0007626, GO:0007399, GO:0006914, GO:0006914, GO:0006895, GO:0006623, lysosomal protein catabolic process, protein retention in Golgi apparatus, social behavior, sperm mitochondrion organization, flagellated sperm motility, protein localization, locomotory behavior, nervous system development, autophagy, autophagy, Golgi to endosome transport, protein targeting to vacuole, 178 155 344 288 102 370 318 65 220 ENSG00000197971 chr18 76978827 77133683 - MBP protein_coding The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called 'Golli-MBP') that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]. 4155 GO:0071944, GO:0045202, GO:0043218, GO:0043209, GO:0043025, GO:0033269, GO:0032991, GO:0009986, GO:0005886, GO:0005634, cell periphery, synapse, compact myelin, myelin sheath, neuronal cell body, internode region of axon, protein-containing complex, cell surface, plasma membrane, nucleus, GO:0019911, GO:0005516, GO:0005515, GO:0002020, structural constituent of myelin sheath, calmodulin binding, protein binding, protease binding, GO:2000343, GO:1904685, GO:0061024, GO:0042552, GO:0035633, GO:0034115, GO:0032755, GO:0021762, GO:0009636, GO:0008366, GO:0007605, GO:0007417, GO:0007268, GO:0006955, GO:0000165, positive regulation of chemokine (C-X-C motif) ligand 2 production, positive regulation of metalloendopeptidase activity, membrane organization, myelination, maintenance of blood-brain barrier, negative regulation of heterotypic cell-cell adhesion, positive regulation of interleukin-6 production, substantia nigra development, response to toxic substance, axon ensheathment, sensory perception of sound, central nervous system development, chemical synaptic transmission, immune response, MAPK cascade, 6633 6752 7283 3811 6277 4913 4271 4721 4295 ENSG00000197976 chrX 1591593 1602514 + AKAP17A protein_coding This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010]. 8227 GO:0016607, GO:0016607, GO:0005829, GO:0005829, GO:0005681, GO:0005634, nuclear speck, nuclear speck, cytosol, cytosol, spliceosomal complex, nucleus, GO:0051018, GO:0051018, GO:0005515, GO:0003723, protein kinase A binding, protein kinase A binding, protein binding, RNA binding, GO:0043484, GO:0043484, GO:0042113, GO:0008380, GO:0007165, GO:0006397, GO:0006355, regulation of RNA splicing, regulation of RNA splicing, B cell activation, RNA splicing, signal transduction, mRNA processing, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000197977 chr6 10980759 11044314 - ELOVL2 protein_coding 54898 GO:0030176, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102756, GO:0102338, GO:0102337, GO:0102336, GO:0009922, GO:0009922, GO:0009922, GO:0005515, very-long-chain 3-ketoacyl-CoA synthase activity, 3-oxo-lignoceronyl-CoA synthase activity, 3-oxo-cerotoyl-CoA synthase activity, 3-oxo-arachidoyl-CoA synthase activity, fatty acid elongase activity, fatty acid elongase activity, fatty acid elongase activity, protein binding, GO:0043651, GO:0042761, GO:0042761, GO:0036109, GO:0035338, GO:0034626, GO:0034626, GO:0034625, GO:0030148, GO:0019367, GO:0006636, linoleic acid metabolic process, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, alpha-linolenic acid metabolic process, long-chain fatty-acyl-CoA biosynthetic process, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, polyunsaturated fatty acid, fatty acid elongation, monounsaturated fatty acid, sphingolipid biosynthetic process, fatty acid elongation, saturated fatty acid, unsaturated fatty acid biosynthetic process, 0 1 2 0 0 0 0 0 0 ENSG00000197978 chr15 82430018 82439153 + GOLGA6L9 protein_coding 440295 GO:0005515, protein binding, 1 1 0 2 0 4 6 0 0 ENSG00000197980 chr3 156825481 157046129 + LEKR1 protein_coding 389170 2 6 8 13 25 27 13 9 19 ENSG00000197982 chr1 37806979 37809454 + C1orf122 protein_coding 127687 214 163 235 267 185 259 275 169 192 ENSG00000197984 chr11 4830175 4833072 + OR51A8P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197989 chr1 28578538 28583132 - SNHG12 antisense This gene produces a long RNA that is overexpressed in tumor cells. This RNA may promote tumorigenesis by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]. 85028 GO:0005730, nucleolus, GO:0006396, RNA processing, 23 30 55 141 187 214 95 64 126 ENSG00000197990 chr7 63449819 63456687 + ZNF734P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000197991 chr13 61409858 61427849 - AL592490.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000197992 chr12 10030677 10066027 + CLEC9A protein_coding CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]. 283420 GO:0016021, GO:0009986, GO:0009986, integral component of membrane, cell surface, cell surface, GO:0030246, carbohydrate binding, GO:0006898, GO:0006898, GO:0001819, receptor-mediated endocytosis, receptor-mediated endocytosis, positive regulation of cytokine production, 159 146 133 118 168 134 97 139 127 ENSG00000197993 chr7 142941114 142962681 - KEL protein_coding This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]. 3792 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005654, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, nucleoplasm, GO:0046872, GO:0005515, GO:0004222, GO:0004222, metal ion binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:1901380, GO:0048741, GO:0042552, GO:0042310, GO:0031133, GO:0016485, GO:0010961, GO:0008361, GO:0006874, GO:0006508, negative regulation of potassium ion transmembrane transport, skeletal muscle fiber development, myelination, vasoconstriction, regulation of axon diameter, protein processing, cellular magnesium ion homeostasis, regulation of cell size, cellular calcium ion homeostasis, proteolysis, 0 0 0 2 0 0 0 0 0 ENSG00000198000 chr9 92297358 92325636 - NOL8 protein_coding NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]. 55035 GO:0005730, GO:0005730, nucleolus, nucleolus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:1902570, GO:1902570, GO:0006364, protein localization to nucleolus, protein localization to nucleolus, rRNA processing, 153 190 182 293 290 326 219 190 228 ENSG00000198001 chr12 43758944 43789543 + IRAK4 protein_coding This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 51135 GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005634, GO:0005615, endosome membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleus, extracellular space, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0005149, GO:0004674, GO:0004674, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, interleukin-1 receptor binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:1990266, GO:0070498, GO:0048661, GO:0045087, GO:0043123, GO:0043123, GO:0035556, GO:0034162, GO:0019221, GO:0007254, GO:0002755, GO:0002446, GO:0002224, GO:0001816, neutrophil migration, interleukin-1-mediated signaling pathway, positive regulation of smooth muscle cell proliferation, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, intracellular signal transduction, toll-like receptor 9 signaling pathway, cytokine-mediated signaling pathway, JNK cascade, MyD88-dependent toll-like receptor signaling pathway, neutrophil mediated immunity, toll-like receptor signaling pathway, cytokine production, 867 763 1050 865 1008 1062 818 643 782 ENSG00000198003 chr19 11420604 11435782 - CCDC151 protein_coding This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. 115948 GO:0036064, GO:0005930, GO:0005929, GO:0005814, ciliary basal body, axoneme, cilium, centriole, GO:0005515, protein binding, GO:1902017, GO:0036158, GO:0007368, GO:0003341, regulation of cilium assembly, outer dynein arm assembly, determination of left/right symmetry, cilium movement, 87 130 106 28 44 65 55 43 37 ENSG00000198010 chr8 737596 1708474 + DLGAP2 protein_coding The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]. 9228 GO:0099572, GO:0098978, GO:0014069, GO:0005886, GO:0005883, postsynaptic specialization, glutamatergic synapse, postsynaptic density, plasma membrane, neurofilament, GO:0060090, GO:0005515, molecular adaptor activity, protein binding, GO:0098962, GO:0007270, regulation of postsynaptic neurotransmitter receptor activity, neuron-neuron synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000198015 chr12 93467488 93516213 + MRPL42 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]. 28977 GO:0005886, GO:0005763, GO:0005762, GO:0005762, GO:0005743, GO:0005739, plasma membrane, mitochondrial small ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0003735, GO:0003723, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, translation, 54 37 66 96 36 87 72 38 79 ENSG00000198018 chr10 99659506 99706240 + ENTPD7 protein_coding This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphates as part of a purinergic signaling pathway. It contains two transmembrane domains at the N- and C-termini and a large, hydrophobic catalytic domain located in between. This gene affects oxidative stress as well as DNA damage and is a mediator of senescence. [provided by RefSeq, Mar 2017]. 57089 GO:0030666, GO:0016021, GO:0016020, GO:0005794, endocytic vesicle membrane, integral component of membrane, membrane, Golgi apparatus, GO:0046872, GO:0045134, GO:0017110, GO:0016787, GO:0004382, metal ion binding, uridine-diphosphatase activity, nucleoside-diphosphatase activity, hydrolase activity, guanosine-diphosphatase activity, GO:0034656, GO:0009134, GO:0006256, nucleobase-containing small molecule catabolic process, nucleoside diphosphate catabolic process, UDP catabolic process, 95 94 167 43 66 53 47 31 57 ENSG00000198019 chr1 121087345 121096310 + FCGR1B protein_coding 519 406 606 160 273 168 169 233 166 ENSG00000198021 chrX 141583674 141585011 - SPANXA1 protein_coding Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]. 30014 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0007283, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000198022 chrX 135673591 135686151 - SAGE2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198026 chr20 45948653 45972172 - ZNF335 protein_coding The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]. 63925 GO:0035097, GO:0035097, GO:0005654, GO:0005634, GO:0005634, histone methyltransferase complex, histone methyltransferase complex, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0000978, GO:0000976, metal ion binding, protein binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0080182, GO:0080182, GO:0051569, GO:0050769, GO:0050769, GO:0050671, GO:0048854, GO:0048812, GO:0045944, GO:0040029, GO:0021895, GO:0010468, GO:0007420, GO:0007420, GO:0002052, GO:0001701, histone H3-K4 trimethylation, histone H3-K4 trimethylation, regulation of histone H3-K4 methylation, positive regulation of neurogenesis, positive regulation of neurogenesis, positive regulation of lymphocyte proliferation, brain morphogenesis, neuron projection morphogenesis, positive regulation of transcription by RNA polymerase II, regulation of gene expression, epigenetic, cerebral cortex neuron differentiation, regulation of gene expression, brain development, brain development, positive regulation of neuroblast proliferation, in utero embryonic development, 408 476 623 577 648 557 509 428 476 ENSG00000198028 chr19 9466507 9498607 - ZNF560 protein_coding 147741 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000198033 chr13 19173770 19181852 - TUBA3C protein_coding Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008]. 7278 GO:0005874, GO:0005737, GO:0005634, microtubule, cytoplasm, nucleus, GO:0005525, GO:0005515, GO:0005200, GO:0003924, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, GO:0000278, GO:0000226, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000198034 chrX 72255679 72277300 - RPS4X protein_coding Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6191 GO:1990904, GO:0070062, GO:0045202, GO:0036464, GO:0022627, GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0005925, GO:0005844, GO:0005840, GO:0005829, GO:0005654, ribonucleoprotein complex, extracellular exosome, synapse, cytoplasmic ribonucleoprotein granule, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, focal adhesion, polysome, ribosome, cytosol, nucleoplasm, GO:0019843, GO:0005515, GO:0003735, GO:0003735, GO:0003723, GO:0003723, rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, RNA binding, GO:0045727, GO:0045471, GO:0019083, GO:0008284, GO:0007275, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0006412, GO:0000184, positive regulation of translation, response to ethanol, viral transcription, positive regulation of cell population proliferation, multicellular organism development, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 659 439 1109 2521 1098 2799 1722 1001 2040 ENSG00000198039 chr7 64870172 64930966 + ZNF273 protein_coding This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. 10793 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 41 77 85 24 16 64 17 22 33 ENSG00000198040 chr12 133037292 133063304 + ZNF84 protein_coding 7637 GO:0005634, nucleus, GO:0008270, GO:0005515, GO:0003677, GO:0000981, GO:0000978, zinc ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 36 26 43 103 36 86 98 29 75 ENSG00000198042 chr8 33484750 33501260 + MAK16 protein_coding 84549 GO:0043231, GO:0030687, GO:0005730, GO:0005730, intracellular membrane-bounded organelle, preribosome, large subunit precursor, nucleolus, nucleolus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0000470, GO:0000460, maturation of LSU-rRNA, maturation of 5.8S rRNA, 18 24 29 43 24 53 19 24 25 ENSG00000198046 chr19 56439325 56478065 - ZNF667 protein_coding 63934 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 1 0 2 0 0 0 3 1 ENSG00000198049 chr1 206109692 206117699 - AVPR1B protein_coding The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]. 553 GO:0005887, GO:0005886, GO:0005886, GO:0005794, GO:0005768, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi apparatus, endosome, GO:0042277, GO:0005080, GO:0005000, GO:0005000, GO:0004930, peptide binding, protein kinase C binding, vasopressin receptor activity, vasopressin receptor activity, G protein-coupled receptor activity, GO:0150104, GO:0090238, GO:0060732, GO:0045907, GO:0043410, GO:0042127, GO:0032430, GO:0007204, GO:0007202, GO:0007186, GO:0007186, GO:0007186, GO:0001992, transport across blood-brain barrier, positive regulation of arachidonic acid secretion, positive regulation of inositol phosphate biosynthetic process, positive regulation of vasoconstriction, positive regulation of MAPK cascade, regulation of cell population proliferation, positive regulation of phospholipase A2 activity, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, regulation of systemic arterial blood pressure by vasopressin, 0 0 0 0 0 0 0 0 0 ENSG00000198053 chr20 1894167 1940592 + SIRPA protein_coding The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]. 140885 GO:0101003, GO:0070821, GO:0070062, GO:0016020, GO:0009986, GO:0009986, GO:0009986, GO:0005887, GO:0005886, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, extracellular exosome, membrane, cell surface, cell surface, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, GO:1990782, GO:1990405, GO:0098632, GO:0086080, GO:0030695, GO:0019903, GO:0017124, protein tyrosine kinase binding, protein antigen binding, cell-cell adhesion mediator activity, protein binding involved in heterotypic cell-cell adhesion, GTPase regulator activity, protein phosphatase binding, SH3 domain binding, GO:1903720, GO:1900016, GO:0071650, GO:0071641, GO:0071349, GO:0071347, GO:0071346, GO:0071222, GO:0070373, GO:0070301, GO:0050900, GO:0050870, GO:0050790, GO:0050766, GO:0050765, GO:0050728, GO:0046329, GO:0045428, GO:0045019, GO:0043312, GO:0035696, GO:0034113, GO:0032720, GO:0032715, GO:0032688, GO:0032680, GO:0032680, GO:0032675, GO:0032651, GO:0032649, GO:0016477, GO:0010468, GO:0007155, GO:0001933, negative regulation of I-kappaB phosphorylation, negative regulation of cytokine production involved in inflammatory response, negative regulation of chemokine (C-C motif) ligand 5 production, negative regulation of macrophage inflammatory protein 1 alpha production, cellular response to interleukin-12, cellular response to interleukin-1, cellular response to interferon-gamma, cellular response to lipopolysaccharide, negative regulation of ERK1 and ERK2 cascade, cellular response to hydrogen peroxide, leukocyte migration, positive regulation of T cell activation, regulation of catalytic activity, positive regulation of phagocytosis, negative regulation of phagocytosis, negative regulation of inflammatory response, negative regulation of JNK cascade, regulation of nitric oxide biosynthetic process, negative regulation of nitric oxide biosynthetic process, neutrophil degranulation, monocyte extravasation, heterotypic cell-cell adhesion, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interferon-beta production, regulation of tumor necrosis factor production, regulation of tumor necrosis factor production, regulation of interleukin-6 production, regulation of interleukin-1 beta production, regulation of interferon-gamma production, cell migration, regulation of gene expression, cell adhesion, negative regulation of protein phosphorylation, 4377 4301 5696 1371 2423 1934 1990 2178 1713 ENSG00000198054 chr21 38121451 38156511 + DSCR8 lincRNA 84677 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000198055 chr5 177403204 177442901 + GRK6 protein_coding This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 2870 GO:0016020, GO:0005886, membrane, plasma membrane, GO:0047696, GO:0047696, GO:0047696, GO:0005524, GO:0005515, GO:0004703, beta-adrenergic receptor kinase activity, beta-adrenergic receptor kinase activity, beta-adrenergic receptor kinase activity, ATP binding, protein binding, G protein-coupled receptor kinase activity, GO:0016055, GO:0008277, GO:0007186, GO:0006468, Wnt signaling pathway, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, protein phosphorylation, 3848 3273 4903 1478 2439 2048 1884 2348 1960 ENSG00000198056 chr12 56731596 56752373 - PRIM1 protein_coding The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]. 5557 GO:0016020, GO:0005658, GO:0005654, membrane, alpha DNA polymerase:primase complex, nucleoplasm, GO:0046872, GO:0005515, GO:0003896, metal ion binding, protein binding, DNA primase activity, GO:0032201, GO:0006270, GO:0006269, GO:0000082, telomere maintenance via semi-conservative replication, DNA replication initiation, DNA replication, synthesis of RNA primer, G1/S transition of mitotic cell cycle, 0 0 4 9 3 13 10 1 9 ENSG00000198060 chr10 92291163 92353964 + MARCH5 protein_coding MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]. 54708 GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005741, GO:0005739, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial outer membrane, mitochondrion, GO:0061630, GO:0061630, GO:0051020, GO:0008270, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, GTPase binding, zinc ion binding, protein binding, GO:0090344, GO:0090141, GO:0090140, GO:0070585, GO:0051865, GO:0000209, negative regulation of cell aging, positive regulation of mitochondrial fission, regulation of mitochondrial fission, protein localization to mitochondrion, protein autoubiquitination, protein polyubiquitination, 425 306 476 235 316 365 344 285 273 ENSG00000198062 chr22 15690026 15721631 + POTEH protein_coding 23784 0 0 0 0 0 7 0 0 0 ENSG00000198064 chr16 30222937 30254510 - NPIPB13 protein_coding 613037 GO:0016021, GO:0005654, GO:0005654, integral component of membrane, nucleoplasm, nucleoplasm, 12 22 24 20 23 36 25 16 71 ENSG00000198074 chr7 134527592 134541408 + AKR1B10 protein_coding This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]. 57016 GO:0005829, GO:0005829, GO:0005764, GO:0005739, GO:0005576, cytosol, cytosol, lysosome, mitochondrion, extracellular region, GO:0052650, GO:0047718, GO:0047655, GO:0045550, GO:0008106, GO:0005515, GO:0004033, GO:0004032, GO:0001758, NADP-retinol dehydrogenase activity, indanol dehydrogenase activity, allyl-alcohol dehydrogenase activity, geranylgeranyl reductase activity, alcohol dehydrogenase (NADP+) activity, protein binding, aldo-keto reductase (NADP) activity, alditol:NADP+ 1-oxidoreductase activity, retinal dehydrogenase activity, GO:0110095, GO:0055114, GO:0044598, GO:0044597, GO:0042572, GO:0016488, GO:0001523, GO:0001523, cellular detoxification of aldehyde, oxidation-reduction process, doxorubicin metabolic process, daunorubicin metabolic process, retinol metabolic process, farnesol catabolic process, retinoid metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000198075 chr2 108377911 108388057 + SULT1C4 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. [provided by RefSeq, Jul 2008]. 27233 GO:0005829, GO:0005829, GO:0005737, cytosol, cytosol, cytoplasm, GO:0008146, GO:0008146, GO:0008146, GO:0004062, GO:0004062, sulfotransferase activity, sulfotransferase activity, sulfotransferase activity, aryl sulfotransferase activity, aryl sulfotransferase activity, GO:0051923, GO:0051923, GO:0050427, GO:0050427, GO:0006068, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, ethanol catabolic process, 2 5 1 1 3 0 1 2 3 ENSG00000198077 chr19 40875439 40882752 - CYP2A7 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]. 1549 GO:0043231, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, endoplasmic reticulum membrane, cytoplasm, GO:0070330, GO:0020037, GO:0019825, GO:0016712, GO:0008395, GO:0008392, GO:0005506, aromatase activity, heme binding, oxygen binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, arachidonic acid epoxygenase activity, iron ion binding, GO:0055114, GO:0042738, GO:0019373, GO:0009804, GO:0006805, GO:0006082, oxidation-reduction process, exogenous drug catabolic process, epoxygenase P450 pathway, coumarin metabolic process, xenobiotic metabolic process, organic acid metabolic process, 3 5 4 3 1 0 3 0 3 ENSG00000198081 chr18 5289019 5297053 - ZBTB14 protein_coding 7541 GO:0016235, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, aggresome, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:1990837, GO:0046872, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060976, GO:0045892, GO:0045892, GO:0006357, GO:0003279, GO:0003170, GO:0001822, GO:0000122, coronary vasculature development, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, cardiac septum development, heart valve development, kidney development, negative regulation of transcription by RNA polymerase II, 45 37 61 79 40 130 64 24 74 ENSG00000198083 chr17 41255384 41256364 + KRTAP9-9 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]. 81870 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000198087 chr6 47477789 47627263 + CD2AP protein_coding This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]. 23607 GO:0070062, GO:0048471, GO:0031941, GO:0030139, GO:0015629, GO:0005911, GO:0005886, GO:0005829, GO:0005737, GO:0001726, GO:0001650, extracellular exosome, perinuclear region of cytoplasm, filamentous actin, endocytic vesicle, actin cytoskeleton, cell-cell junction, plasma membrane, cytosol, cytoplasm, ruffle, fibrillar center, GO:0045296, GO:0044877, GO:0042802, GO:0017124, GO:0008022, GO:0008013, GO:0005515, GO:0005200, GO:0005172, cadherin binding, protein-containing complex binding, identical protein binding, SH3 domain binding, protein C-terminus binding, beta-catenin binding, protein binding, structural constituent of cytoskeleton, vascular endothelial growth factor receptor binding, GO:2000249, GO:1900182, GO:0098609, GO:0065003, GO:0051301, GO:0051058, GO:0050714, GO:0048259, GO:0043161, GO:0032911, GO:0016050, GO:0007165, GO:0007049, GO:0007015, GO:0006930, regulation of actin cytoskeleton reorganization, positive regulation of protein localization to nucleus, cell-cell adhesion, protein-containing complex assembly, cell division, negative regulation of small GTPase mediated signal transduction, positive regulation of protein secretion, regulation of receptor-mediated endocytosis, proteasome-mediated ubiquitin-dependent protein catabolic process, negative regulation of transforming growth factor beta1 production, vesicle organization, signal transduction, cell cycle, actin filament organization, substrate-dependent cell migration, cell extension, 72 66 120 86 36 133 74 28 43 ENSG00000198088 chrX 107123427 107206433 - NUP62CL protein_coding This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. 54830 GO:0044613, nuclear pore central transport channel, GO:0017056, GO:0005543, GO:0005515, structural constituent of nuclear pore, phospholipid binding, protein binding, GO:0006606, GO:0006405, protein import into nucleus, RNA export from nucleus, 0 1 0 0 0 4 5 0 0 ENSG00000198089 chr22 31488688 31618586 + SFI1 protein_coding 9814 GO:0005829, GO:0005814, GO:0005813, cytosol, centriole, centrosome, GO:0019902, GO:0005515, phosphatase binding, protein binding, GO:0097711, GO:0010923, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, negative regulation of phosphatase activity, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 460 508 588 549 729 717 622 549 598 ENSG00000198090 chr17 41139433 41140487 - KRTAP4-6 protein_coding 81871 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 2 0 0 0 0 0 0 ENSG00000198092 chr4 68053198 68129880 - TMPRSS11F protein_coding 389208 GO:0009986, GO:0005887, GO:0005576, cell surface, integral component of plasma membrane, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 4 0 0 0 0 0 ENSG00000198093 chr19 51889224 51905040 - ZNF649 protein_coding 65251 GO:0005634, GO:0005615, GO:0000785, nucleus, extracellular space, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 15 3 17 9 9 17 12 17 19 ENSG00000198099 chr4 99123657 99157792 - ADH4 protein_coding This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]. 127 GO:0005829, GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, cytosol, nucleoplasm, GO:0051903, GO:0051287, GO:0035276, GO:0019841, GO:0019115, GO:0016620, GO:0008270, GO:0008270, GO:0005515, GO:0005503, GO:0004745, GO:0004032, GO:0004024, GO:0004024, GO:0004022, GO:0003960, S-(hydroxymethyl)glutathione dehydrogenase activity, NAD binding, ethanol binding, retinol binding, benzaldehyde dehydrogenase [NAD(P)+] activity, oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor, zinc ion binding, zinc ion binding, protein binding, all-trans retinal binding, retinol dehydrogenase activity, alditol:NADP+ 1-oxidoreductase activity, alcohol dehydrogenase activity, zinc-dependent, alcohol dehydrogenase activity, zinc-dependent, alcohol dehydrogenase (NAD+) activity, NADPH:quinone reductase activity, GO:1901661, GO:0046294, GO:0046164, GO:0042572, GO:0010430, GO:0006081, GO:0006069, GO:0006069, GO:0006066, GO:0001523, quinone metabolic process, formaldehyde catabolic process, alcohol catabolic process, retinol metabolic process, fatty acid omega-oxidation, cellular aldehyde metabolic process, ethanol oxidation, ethanol oxidation, alcohol metabolic process, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000198104 chr1 248375746 248391811 + OR2T6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 254879 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000198105 chr10 37776526 37858106 - ZNF248 protein_coding 57209 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 11 10 17 18 9 23 29 9 43 ENSG00000198106 chr16 29291220 29372110 + SNX29P2 processed_transcript 2 4 6 1 6 4 5 8 2 ENSG00000198108 chr5 129904472 130186634 + CHSY3 protein_coding CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]. 337876 GO:0032580, GO:0016021, GO:0000139, Golgi cisterna membrane, integral component of membrane, Golgi membrane, GO:0050510, GO:0047238, GO:0046872, GO:0008376, N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, metal ion binding, acetylgalactosaminyltransferase activity, GO:0030206, GO:0030206, chondroitin sulfate biosynthetic process, chondroitin sulfate biosynthetic process, 0 0 4 0 0 7 0 0 0 ENSG00000198113 chr9 137277749 137282641 + TOR4A protein_coding 54863 GO:0031093, GO:0016021, GO:0005788, GO:0005635, GO:0005576, platelet alpha granule lumen, integral component of membrane, endoplasmic reticulum lumen, nuclear envelope, extracellular region, GO:0016887, GO:0005524, ATPase activity, ATP binding, GO:0002576, platelet degranulation, 302 286 500 111 162 126 131 168 162 ENSG00000198121 chr9 110873263 111038458 - LPAR1 protein_coding The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Many transcript variants encoding a few different isoforms have been identified for this gene. [provided by RefSeq, Oct 2020]. 1902 GO:0043198, GO:0043197, GO:0043025, GO:0030139, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005768, GO:0005737, dendritic shaft, dendritic spine, neuronal cell body, endocytic vesicle, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, endosome, cytoplasm, GO:0070915, GO:0070915, GO:0070915, GO:0035727, GO:0030165, GO:0005515, GO:0004930, GO:0001965, lysophosphatidic acid receptor activity, lysophosphatidic acid receptor activity, lysophosphatidic acid receptor activity, lysophosphatidic acid binding, PDZ domain binding, protein binding, G protein-coupled receptor activity, G-protein alpha-subunit binding, GO:1904566, GO:0071673, GO:0071453, GO:0060999, GO:0060326, GO:0051496, GO:0051482, GO:0051482, GO:0043951, GO:0043410, GO:0043123, GO:0043065, GO:0042552, GO:0035025, GO:0032060, GO:0022038, GO:0022008, GO:0021554, GO:0021549, GO:0019222, GO:0014003, GO:0010977, GO:0008360, GO:0007204, GO:0007202, GO:0007193, GO:0007189, GO:0007186, GO:0000187, cellular response to 1-oleoyl-sn-glycerol 3-phosphate, positive regulation of smooth muscle cell chemotaxis, cellular response to oxygen levels, positive regulation of dendritic spine development, cell chemotaxis, positive regulation of stress fiber assembly, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, negative regulation of cAMP-mediated signaling, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, myelination, positive regulation of Rho protein signal transduction, bleb assembly, corpus callosum development, neurogenesis, optic nerve development, cerebellum development, regulation of metabolic process, oligodendrocyte development, negative regulation of neuron projection development, regulation of cell shape, positive regulation of cytosolic calcium ion concentration, activation of phospholipase C activity, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, activation of MAPK activity, 22 9 16 7 1 11 16 6 4 ENSG00000198125 chr22 35606764 35637951 - MB protein_coding This gene encodes a member of the globin superfamily and is predominantly expressed in skeletal and cardiac muscles. The encoded protein forms a monomeric globular haemoprotein that is primarily responsible for the storage and facilitated transfer of oxygen from the cell membrane to the mitochondria. This protein also plays a role in regulating physiological levels of nitric oxide. Multiple transcript variants encoding distinct isoforms exist for this gene. [provided by RefSeq, May 2020]. 4151 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0046872, GO:0020037, GO:0019825, GO:0005344, metal ion binding, heme binding, oxygen binding, oxygen carrier activity, GO:0050873, GO:0043353, GO:0042542, GO:0031444, GO:0015671, GO:0015671, GO:0009725, GO:0007507, GO:0001666, brown fat cell differentiation, enucleate erythrocyte differentiation, response to hydrogen peroxide, slow-twitch skeletal muscle fiber contraction, oxygen transport, oxygen transport, response to hormone, heart development, response to hypoxia, 1 0 0 1 0 0 0 0 0 ENSG00000198128 chr1 248046836 248063407 + OR2L3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391192 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, GO:0003674, olfactory receptor activity, G protein-coupled receptor activity, molecular_function, GO:0050911, GO:0008150, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, biological_process, G protein-coupled receptor signaling pathway, 0 0 0 0 1 0 0 0 0 ENSG00000198129 chr8 7495846 7509311 + DEFB107B protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]. 503614 GO:0005576, extracellular region, GO:0008289, lipid binding, GO:0050830, GO:0050829, GO:0045087, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, innate immune response, 0 0 0 0 0 0 0 0 0 ENSG00000198130 chr2 190189735 190344193 - HIBCH protein_coding This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 26275 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0003860, GO:0003860, GO:0003860, 3-hydroxyisobutyryl-CoA hydrolase activity, 3-hydroxyisobutyryl-CoA hydrolase activity, 3-hydroxyisobutyryl-CoA hydrolase activity, GO:0009083, GO:0006574, GO:0006574, branched-chain amino acid catabolic process, valine catabolic process, valine catabolic process, 44 46 66 46 32 78 59 30 63 ENSG00000198131 chr19 58228594 58277495 + ZNF544 protein_coding 27300 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 37 22 28 82 47 34 38 32 27 ENSG00000198133 chr14 67447084 67533739 - TMEM229B protein_coding 161145 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0009617, response to bacterium, 13 30 30 20 17 40 29 17 37 ENSG00000198134 chr12 12111163 12111489 + AC007537.1 processed_pseudogene 2 2 7 4 3 1 4 0 3 ENSG00000198142 chr2 109614334 109618990 + SOWAHC protein_coding 65124 1 0 2 2 4 0 0 0 10 ENSG00000198146 chr15 34978341 34988287 - ZNF770 protein_coding 54989 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 284 210 298 218 142 259 226 143 196 ENSG00000198153 chr19 22685167 22686732 + ZNF849P unprocessed_pseudogene 1 0 0 0 0 0 1 0 0 ENSG00000198155 chr4 212610 255985 + ZNF876P transcribed_unprocessed_pseudogene 642280 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2 1 1 1 0 4 0 1 0 ENSG00000198156 chr16 28342555 28363508 - NPIPB6 protein_coding 728741 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, 1 0 0 0 4 1 0 2 0 ENSG00000198157 chrX 81113701 81201942 - HMGN5 protein_coding This gene encodes a nuclear protein with similarities to the high mobility group proteins, HMG14 and HMG17, which suggests that this protein may function as a nucleosomal binding and transcriptional activating protein. [provided by RefSeq, Sep 2009]. 79366 GO:0005739, GO:0005654, GO:0005634, GO:0000785, mitochondrion, nucleoplasm, nucleus, chromatin, GO:0031492, GO:0003723, GO:0003682, nucleosomal DNA binding, RNA binding, chromatin binding, GO:0071157, GO:0045893, GO:0043066, GO:0010628, GO:0008284, GO:0006355, GO:0006325, negative regulation of cell cycle arrest, positive regulation of transcription, DNA-templated, negative regulation of apoptotic process, positive regulation of gene expression, positive regulation of cell population proliferation, regulation of transcription, DNA-templated, chromatin organization, 28 20 21 36 38 24 19 28 4 ENSG00000198160 chr1 66924895 66988619 + MIER1 protein_coding This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013]. 57708 GO:0032991, GO:0017053, GO:0005737, GO:0005654, GO:0005654, GO:0005634, protein-containing complex, transcription repressor complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0042826, GO:0042826, GO:0005515, GO:0004407, GO:0003714, GO:0001103, histone deacetylase binding, histone deacetylase binding, protein binding, histone deacetylase activity, transcription corepressor activity, RNA polymerase II repressing transcription factor binding, GO:0043123, GO:0031937, GO:0016575, GO:0016575, GO:0000122, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of chromatin silencing, histone deacetylation, histone deacetylation, negative regulation of transcription by RNA polymerase II, 2237 1929 2825 992 1465 1442 1150 1199 1262 ENSG00000198162 chr1 117367449 117528872 + MAN1A2 protein_coding Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]. 10905 GO:0070062, GO:0016021, GO:0016020, GO:0005794, GO:0005783, GO:0000139, GO:0000139, extracellular exosome, integral component of membrane, membrane, Golgi apparatus, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0005509, GO:0004571, calcium ion binding, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, GO:1904381, GO:0048286, GO:0007585, GO:0006491, GO:0006486, GO:0005975, Golgi apparatus mannose trimming, lung alveolus development, respiratory gaseous exchange by respiratory system, N-glycan processing, protein glycosylation, carbohydrate metabolic process, 201 183 284 188 117 288 191 109 259 ENSG00000198168 chr11 22813799 22830299 - SVIP protein_coding Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. 258010 GO:0070821, GO:0070062, GO:0031225, GO:0031225, GO:0030868, GO:0030667, GO:0005886, GO:0005789, GO:0005789, GO:0000139, tertiary granule membrane, extracellular exosome, anchored component of membrane, anchored component of membrane, smooth endoplasmic reticulum membrane, secretory granule membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0051117, GO:0043621, GO:0005515, ATPase binding, protein self-association, protein binding, GO:1904240, GO:1904153, GO:1904153, GO:1903070, GO:1903070, GO:1903061, GO:0043312, GO:0031333, GO:0010508, GO:0010508, negative regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly, negative regulation of retrograde protein transport, ER to cytosol, negative regulation of retrograde protein transport, ER to cytosol, negative regulation of ER-associated ubiquitin-dependent protein catabolic process, negative regulation of ER-associated ubiquitin-dependent protein catabolic process, positive regulation of protein lipidation, neutrophil degranulation, negative regulation of protein-containing complex assembly, positive regulation of autophagy, positive regulation of autophagy, 124 73 142 154 45 125 121 41 107 ENSG00000198169 chr8 144720907 144756417 - ZNF251 protein_coding 90987 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 1 1 0 0 3 1 0 ENSG00000198171 chr20 3190350 3204685 - DDRGK1 protein_coding The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]. 65992 GO:0005789, GO:0005783, GO:0005737, GO:0005730, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleolus, GO:0044389, GO:0005515, GO:0001103, ubiquitin-like protein ligase binding, protein binding, RNA polymerase II repressing transcription factor binding, GO:1990592, GO:1905636, GO:1905552, GO:1905050, GO:1903895, GO:1903721, GO:1902808, GO:1901800, GO:0071569, GO:0070972, GO:0061709, GO:0051216, GO:0051092, GO:0045944, GO:0043066, GO:0034976, GO:0034976, GO:0033146, GO:0032436, GO:0032435, GO:0031647, GO:0030335, GO:0010629, GO:0010628, GO:0008284, protein K69-linked ufmylation, positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding, positive regulation of protein localization to endoplasmic reticulum, positive regulation of metallopeptidase activity, negative regulation of IRE1-mediated unfolded protein response, positive regulation of I-kappaB phosphorylation, positive regulation of cell cycle G1/S phase transition, positive regulation of proteasomal protein catabolic process, protein ufmylation, protein localization to endoplasmic reticulum, reticulophagy, cartilage development, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, response to endoplasmic reticulum stress, response to endoplasmic reticulum stress, regulation of intracellular estrogen receptor signaling pathway, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, regulation of protein stability, positive regulation of cell migration, negative regulation of gene expression, positive regulation of gene expression, positive regulation of cell population proliferation, 68 80 92 54 71 102 68 76 75 ENSG00000198173 chrX 37008397 37011666 + FAM47C protein_coding This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011]. 442444 0 0 0 0 0 0 0 0 0 ENSG00000198176 chr13 113584721 113641470 + TFDP1 protein_coding This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]. 7027 GO:0090575, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0019904, GO:0008134, GO:0005515, GO:0003700, GO:0001228, GO:0000987, GO:0000981, GO:0000981, GO:0000977, GO:0000977, protein domain specific binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000278, GO:1900740, GO:1900087, GO:0070345, GO:0070317, GO:0051091, GO:0045944, GO:0045944, GO:0043276, GO:0008544, GO:0006977, GO:0006366, GO:0006357, GO:0000083, regulation of DNA biosynthetic process, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, positive regulation of G1/S transition of mitotic cell cycle, negative regulation of fat cell proliferation, negative regulation of G0 to G1 transition, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, anoikis, epidermis development, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription involved in G1/S transition of mitotic cell cycle, 240 411 675 174 260 309 148 218 228 ENSG00000198178 chr12 7729415 7751605 - CLEC4C protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 170482 GO:0101003, GO:0070821, GO:0030667, GO:0016021, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, secretory granule membrane, integral component of membrane, plasma membrane, GO:0046872, GO:0030246, GO:0005515, metal ion binding, carbohydrate binding, protein binding, GO:0045087, GO:0043312, GO:0002250, GO:0002223, innate immune response, neutrophil degranulation, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, 53 37 53 18 34 28 30 22 27 ENSG00000198182 chr19 37696363 37719790 - ZNF607 protein_coding 84775 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 3 2 10 5 8 7 4 1 7 ENSG00000198183 chr20 33235995 33243311 + BPIFA1 protein_coding This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]. 51297 GO:0005615, GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular space, extracellular region, extracellular region, GO:0008289, GO:0005515, GO:0003674, lipid binding, protein binding, molecular_function, GO:1902305, GO:1900229, GO:1900229, GO:0061844, GO:0061844, GO:0051607, GO:0050891, GO:0050828, GO:0050828, GO:0045087, GO:0045087, GO:0045087, GO:0019731, GO:0019731, GO:0019730, GO:0002395, GO:0002395, regulation of sodium ion transmembrane transport, negative regulation of single-species biofilm formation in or on host organism, negative regulation of single-species biofilm formation in or on host organism, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to virus, multicellular organismal water homeostasis, regulation of liquid surface tension, regulation of liquid surface tension, innate immune response, innate immune response, innate immune response, antibacterial humoral response, antibacterial humoral response, antimicrobial humoral response, immune response in nasopharyngeal-associated lymphoid tissue, immune response in nasopharyngeal-associated lymphoid tissue, 0 0 0 0 0 0 0 0 0 ENSG00000198185 chr20 46499630 46513559 - ZNF334 protein_coding This gene encodes a member of the C2H2 zinc finger family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding domains. Decreased expression of this gene may be a marker for rheumatoid arthritis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. 55713 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 1 0 0 0 0 0 0 0 ENSG00000198189 chr4 87336610 87391386 - HSD17B11 protein_coding Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]. 51170 GO:0005829, GO:0005811, GO:0005811, GO:0005783, GO:0005737, cytosol, lipid droplet, lipid droplet, endoplasmic reticulum, cytoplasm, GO:0016616, GO:0016229, GO:0016229, GO:0005515, GO:0004303, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, steroid dehydrogenase activity, steroid dehydrogenase activity, protein binding, estradiol 17-beta-dehydrogenase activity, GO:0055114, GO:0006710, GO:0006703, oxidation-reduction process, androgen catabolic process, estrogen biosynthetic process, 3260 3099 3676 936 2469 1601 1388 2254 1522 ENSG00000198198 chr1 43389882 43454247 + SZT2 protein_coding The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]. 23334 GO:1990130, GO:0140007, GO:0061700, GO:0005777, GO:0005777, GO:0005765, GATOR1 complex, KICSTOR complex, GATOR2 complex, peroxisome, peroxisome, lysosomal membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1904262, GO:1901668, GO:0061462, GO:0043473, GO:0042149, GO:0034198, GO:0021540, GO:0009791, GO:0007417, negative regulation of TORC1 signaling, regulation of superoxide dismutase activity, protein localization to lysosome, pigmentation, cellular response to glucose starvation, cellular response to amino acid starvation, corpus callosum morphogenesis, post-embryonic development, central nervous system development, 750 836 878 842 907 1034 881 619 793 ENSG00000198203 chr2 108288639 108309915 + SULT1C2 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 6819 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:0008146, GO:0008146, GO:0005515, GO:0004062, sulfotransferase activity, sulfotransferase activity, protein binding, aryl sulfotransferase activity, GO:0051923, GO:0051923, GO:0050427, GO:0009308, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, amine metabolic process, 0 0 0 0 1 0 0 0 0 ENSG00000198205 chrX 57906708 57910820 - ZXDA protein_coding This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009]. 7789 GO:0005634, nucleus, GO:0070742, GO:0046872, GO:0005515, GO:0003713, GO:0003712, C2H2 zinc finger domain binding, metal ion binding, protein binding, transcription coactivator activity, transcription coregulator activity, GO:0045893, GO:0006357, positive regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, 2 11 20 29 7 32 11 6 15 ENSG00000198208 chr14 74903954 74923396 - RPS6KL1 protein_coding 83694 GO:0005840, ribosome, GO:0106311, GO:0106310, GO:0005524, protein threonine kinase activity, protein serine kinase activity, ATP binding, GO:0006468, protein phosphorylation, 4 6 3 9 12 13 10 5 12 ENSG00000198211 chr16 89919165 89936092 + AC092143.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000198216 chr1 181317690 181808084 + CACNA1E protein_coding Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]. 777 GO:0045202, GO:0005891, GO:0005886, synapse, voltage-gated calcium channel complex, plasma membrane, GO:0022843, GO:0005509, GO:0005245, GO:0005245, voltage-gated cation channel activity, calcium ion binding, voltage-gated calcium channel activity, voltage-gated calcium channel activity, GO:0070588, GO:0070509, GO:0051899, GO:0050796, GO:0034765, GO:0007268, GO:0006816, calcium ion transmembrane transport, calcium ion import, membrane depolarization, regulation of insulin secretion, regulation of ion transmembrane transport, chemical synaptic transmission, calcium ion transport, 145 159 212 127 240 206 157 119 207 ENSG00000198217 chr11 4871717 4878117 + OR51H2P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198218 chr3 49029707 49094363 - QRICH1 protein_coding 54870 GO:0005654, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 554 597 785 483 470 511 448 401 464 ENSG00000198221 chr6 167823876 167826709 - AFDN-DT lincRNA 1 0 1 0 0 0 0 0 0 ENSG00000198223 chrX 1268800 1310381 + CSF2RA protein_coding The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]. 1438 GO:0043235, GO:0009897, GO:0005887, GO:0005886, GO:0005576, receptor complex, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular region, GO:0038023, GO:0019955, GO:0005515, GO:0004896, signaling receptor activity, cytokine binding, protein binding, cytokine receptor activity, GO:0044267, GO:0019221, GO:0019221, GO:0000165, cellular protein metabolic process, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, MAPK cascade, 2 1 1 1 3 0 0 0 0 ENSG00000198225 chr6 63211446 63213024 + FKBP1C protein_coding 34 31 27 6 25 11 15 15 13 ENSG00000198231 chr17 63773603 63819317 + DDX42 protein_coding This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 11325 GO:0016607, GO:0016020, GO:0015030, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear speck, membrane, Cajal body, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, RNA binding, GO:0042981, GO:0008104, GO:0000398, regulation of apoptotic process, protein localization, mRNA splicing, via spliceosome, 464 487 661 523 557 649 552 421 556 ENSG00000198237 chr5 69875271 69920867 + AC131392.1 unprocessed_pseudogene 1 2 0 0 0 0 0 0 0 ENSG00000198242 chr17 28719393 28724359 + RPL23A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the target molecules involved in mediating growth inhibition by interferon. In yeast, the corresponding protein binds to a specific site on the 26S rRNA. This gene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA genes, which are located in its third, first, second, and fourth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6147 GO:0070062, GO:0022625, GO:0022625, GO:0022625, GO:0005829, GO:0005737, GO:0005730, GO:0005634, extracellular exosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosol, cytoplasm, nucleolus, nucleus, GO:1904841, GO:0045296, GO:0019843, GO:0005515, GO:0003735, GO:0003735, GO:0003723, TORC2 complex binding, cadherin binding, rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, GO:0000027, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal large subunit assembly, 734 502 1250 2537 1052 2893 1843 934 1902 ENSG00000198246 chr10 71319258 71381423 + SLC29A3 protein_coding This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]. 55315 GO:0043231, GO:0031902, GO:0016021, GO:0005886, GO:0005794, GO:0005794, GO:0005765, GO:0005765, intracellular membrane-bounded organelle, late endosome membrane, integral component of membrane, plasma membrane, Golgi apparatus, Golgi apparatus, lysosomal membrane, lysosomal membrane, GO:0005515, GO:0005337, GO:0005337, protein binding, nucleoside transmembrane transporter activity, nucleoside transmembrane transporter activity, GO:1901642, nucleoside transmembrane transport, 4 8 9 3 5 13 5 4 11 ENSG00000198251 chr19 40908480 40910685 - CYP2A7P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198252 chr14 52730180 52774998 + STYX protein_coding The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011]. 6815 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleus, GO:1990444, GO:1990444, GO:0008138, GO:0005515, GO:0001691, F-box domain binding, F-box domain binding, protein tyrosine/serine/threonine phosphatase activity, protein binding, pseudophosphatase activity, GO:0070372, GO:0070372, GO:0062026, GO:0062026, GO:0045204, GO:0032091, GO:0032091, GO:0006470, regulation of ERK1 and ERK2 cascade, regulation of ERK1 and ERK2 cascade, negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process, negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process, MAPK export from nucleus, negative regulation of protein binding, negative regulation of protein binding, protein dephosphorylation, 195 180 234 201 168 248 207 139 152 ENSG00000198258 chr19 9827892 9830115 + UBL5 protein_coding This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]. 59286 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0031386, GO:0005515, protein tag, protein binding, GO:1903955, GO:0006464, GO:0000398, positive regulation of protein targeting to mitochondrion, cellular protein modification process, mRNA splicing, via spliceosome, 650 441 676 515 593 565 432 585 466 ENSG00000198261 chr11 59391354 59392292 - OR5BB1P unprocessed_pseudogene 0 0 4 0 1 0 0 0 0 ENSG00000198265 chr17 67070438 67245989 - HELZ protein_coding HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]. 9931 GO:0043186, GO:0016020, GO:0005829, GO:0005634, P granule, membrane, cytosol, nucleus, GO:0046872, GO:0005524, GO:0005515, GO:0004386, GO:0003723, GO:0003723, metal ion binding, ATP binding, protein binding, helicase activity, RNA binding, RNA binding, GO:0035194, post-transcriptional gene silencing by RNA, 998 921 1126 641 670 750 729 502 625 ENSG00000198270 chr12 111931282 112013185 - TMEM116 protein_coding 89894 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 25 21 32 47 17 66 44 24 37 ENSG00000198271 chr17 41148924 41149802 - KRTAP4-5 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 85289 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0042633, GO:0031424, GO:0007568, hair cycle, keratinization, aging, 0 0 0 0 0 0 0 0 0 ENSG00000198276 chr20 63939829 63956415 - UCKL1 protein_coding The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 54963 GO:0005829, GO:0005634, cytosol, nucleus, GO:0016301, GO:0005524, GO:0005515, GO:0004849, kinase activity, ATP binding, protein binding, uridine kinase activity, GO:0044211, GO:0044206, GO:0043097, GO:0016310, GO:0016032, CTP salvage, UMP salvage, pyrimidine nucleoside salvage, phosphorylation, viral process, 59 46 68 68 62 96 48 50 72 ENSG00000198277 chr4 68914928 68924741 - AC021146.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198283 chr11 58507175 58508105 - OR5B21 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219968 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 3 0 0 0 ENSG00000198284 chr3 126660609 126671939 + NUP210P1 transcribed_processed_pseudogene 255330 0 0 0 0 0 0 0 0 0 ENSG00000198286 chr7 2906141 3043945 - CARD11 protein_coding The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]. 84433 GO:0070062, GO:0045121, GO:0032449, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0001772, extracellular exosome, membrane raft, CBM complex, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, immunological synapse, GO:0050700, GO:0050700, GO:0005515, GO:0004385, CARD domain binding, CARD domain binding, protein binding, guanylate kinase activity, GO:0051092, GO:0050862, GO:0050852, GO:0048872, GO:0046710, GO:0046037, GO:0045580, GO:0045577, GO:0045061, GO:0043123, GO:0043123, GO:0042981, GO:0042102, GO:0042100, GO:0038202, GO:0038095, GO:0032743, GO:0032623, GO:0031295, GO:0030890, GO:0030183, GO:0007249, GO:0002377, GO:0002223, positive regulation of NF-kappaB transcription factor activity, positive regulation of T cell receptor signaling pathway, T cell receptor signaling pathway, homeostasis of number of cells, GDP metabolic process, GMP metabolic process, regulation of T cell differentiation, regulation of B cell differentiation, thymic T cell selection, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of apoptotic process, positive regulation of T cell proliferation, B cell proliferation, TORC1 signaling, Fc-epsilon receptor signaling pathway, positive regulation of interleukin-2 production, interleukin-2 production, T cell costimulation, positive regulation of B cell proliferation, B cell differentiation, I-kappaB kinase/NF-kappaB signaling, immunoglobulin production, stimulatory C-type lectin receptor signaling pathway, 92 74 220 309 102 414 246 112 301 ENSG00000198298 chr10 43606407 43617903 + ZNF485 protein_coding 220992 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 2 10 3 8 4 3 3 ENSG00000198300 chr19 56810077 56840728 - PEG3 protein_coding In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]. 5178 GO:0005776, GO:0005634, GO:0000785, autophagosome, nucleus, chromatin, GO:0046872, GO:0003674, GO:0001227, GO:0000981, GO:0000977, metal ion binding, molecular_function, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0010468, GO:0006915, GO:0006357, GO:0000122, GO:0000122, positive regulation of transcription by RNA polymerase II, regulation of gene expression, apoptotic process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000198301 chr4 75940950 75990962 - SDAD1 protein_coding 55153 GO:0005730, GO:0005730, GO:0005654, nucleolus, nucleolus, nucleoplasm, GO:0003674, molecular_function, GO:0042273, GO:0042273, GO:0030036, GO:0000055, ribosomal large subunit biogenesis, ribosomal large subunit biogenesis, actin cytoskeleton organization, ribosomal large subunit export from nucleus, 31 23 45 58 32 78 55 30 58 ENSG00000198312 chr9 63055641 63059217 + BMS1P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198315 chr6 28141910 28159472 + ZKSCAN8 protein_coding 7745 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 121 115 169 176 145 160 160 85 140 ENSG00000198324 chr12 111360651 111369121 - PHETA1 protein_coding This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 144717 GO:0055037, GO:0055037, GO:0030136, GO:0005829, GO:0005802, GO:0005802, GO:0005769, GO:0005769, recycling endosome, recycling endosome, clathrin-coated vesicle, cytosol, trans-Golgi network, trans-Golgi network, early endosome, early endosome, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0042147, GO:0042147, GO:0007032, GO:0007032, GO:0001881, GO:0001881, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, endosome organization, endosome organization, receptor recycling, receptor recycling, 1 0 2 1 1 0 0 2 0 ENSG00000198326 chr20 2816302 2820284 + TMEM239 protein_coding 100288797 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000198331 chr11 125883614 125900648 + HYLS1 protein_coding This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]. 219844 GO:0097730, GO:0005929, GO:0005886, GO:0005829, GO:0005814, GO:0005813, GO:0005737, GO:0005634, non-motile cilium, cilium, plasma membrane, cytosol, centriole, centrosome, cytoplasm, nucleus, GO:0005515, protein binding, GO:0060271, GO:0060271, cilium assembly, cilium assembly, 6 1 3 9 1 18 5 1 0 ENSG00000198336 chr17 47200446 47223679 + MYL4 protein_coding Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 4635 GO:0031672, GO:0016459, GO:0005829, A band, myosin complex, cytosol, GO:0051015, GO:0032038, GO:0005509, GO:0003785, actin filament binding, myosin II heavy chain binding, calcium ion binding, actin monomer binding, GO:0060048, GO:0032781, GO:0030049, GO:0002026, cardiac muscle contraction, positive regulation of ATPase activity, muscle filament sliding, regulation of the force of heart contraction, 2 0 0 1 0 0 1 0 0 ENSG00000198342 chr19 12345949 12365905 - ZNF442 protein_coding 79973 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 5 1 7 8 0 0 2 0 0 ENSG00000198346 chr19 53467735 53496255 + ZNF813 protein_coding 126017 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 12 12 20 40 10 17 23 4 19 ENSG00000198353 chr12 54016931 54056030 + HOXC4 protein_coding This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]. 3221 GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0071837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, HMG box domain binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0051216, GO:0048704, GO:0045944, GO:0009952, GO:0006357, cartilage development, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, anterior/posterior pattern specification, regulation of transcription by RNA polymerase II, 0 0 2 0 2 6 0 2 4 ENSG00000198354 chrX 126163499 126166097 - DCAF12L2 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]. 340578 GO:0080008, Cul4-RING E3 ubiquitin ligase complex, 0 0 0 0 0 0 0 0 0 ENSG00000198355 chr22 49960513 49964080 + PIM3 protein_coding The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]. 415116 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0061179, GO:0046777, GO:0043066, GO:0043066, GO:0007346, GO:0007346, GO:0007049, GO:0006915, GO:0006468, negative regulation of insulin secretion involved in cellular response to glucose stimulus, protein autophosphorylation, negative regulation of apoptotic process, negative regulation of apoptotic process, regulation of mitotic cell cycle, regulation of mitotic cell cycle, cell cycle, apoptotic process, protein phosphorylation, 1933 1993 3958 1897 1981 5807 2952 2188 6261 ENSG00000198356 chr19 12737139 12748323 + ASNA1 protein_coding This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011]. 439 GO:0070062, GO:0043529, GO:0005789, GO:0005737, GO:0005730, GO:0005654, extracellular exosome, GET complex, endoplasmic reticulum membrane, cytoplasm, nucleolus, nucleoplasm, GO:0046872, GO:0016887, GO:0015105, GO:0005524, GO:0005515, metal ion binding, ATPase activity, arsenite transmembrane transporter activity, ATP binding, protein binding, GO:0071816, GO:0036498, GO:0015700, GO:0006620, tail-anchored membrane protein insertion into ER membrane, IRE1-mediated unfolded protein response, arsenite transport, posttranslational protein targeting to endoplasmic reticulum membrane, 192 172 201 101 129 99 145 130 116 ENSG00000198358 chr1 160932465 160949922 + AL354714.1 antisense 101928372 0 0 0 0 1 0 0 8 0 ENSG00000198363 chr8 61500556 61714640 - ASPH protein_coding This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]. 444 GO:0033017, GO:0032541, GO:0016021, GO:0005886, GO:0005789, GO:0005789, GO:0005783, GO:0005783, sarcoplasmic reticulum membrane, cortical endoplasmic reticulum, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0062101, GO:0009055, GO:0008307, GO:0005515, GO:0005509, GO:0005198, GO:0004597, peptidyl-aspartic acid 3-dioxygenase activity, electron transfer activity, structural constituent of muscle, protein binding, calcium ion binding, structural molecule activity, peptide-aspartate beta-dioxygenase activity, GO:1903779, GO:1901879, GO:0097202, GO:0060325, GO:0060021, GO:0045862, GO:0042264, GO:0035108, GO:0034220, GO:0031647, GO:0022900, GO:0008285, GO:0007389, GO:0006936, regulation of cardiac conduction, regulation of protein depolymerization, activation of cysteine-type endopeptidase activity, face morphogenesis, roof of mouth development, positive regulation of proteolysis, peptidyl-aspartic acid hydroxylation, limb morphogenesis, ion transmembrane transport, regulation of protein stability, electron transport chain, negative regulation of cell population proliferation, pattern specification process, muscle contraction, 917 962 1136 357 624 304 471 467 391 ENSG00000198367 chr19 14916428 14917380 + OR7A11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198369 chr2 65310851 65432637 - SPRED2 protein_coding SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]. 200734 GO:0030658, GO:0005886, GO:0005829, transport vesicle membrane, plasma membrane, cytosol, GO:0030291, GO:0019901, GO:0019901, GO:0005515, GO:0005173, protein serine/threonine kinase inhibitor activity, protein kinase binding, protein kinase binding, protein binding, stem cell factor receptor binding, GO:1902747, GO:0090311, GO:0090311, GO:0070373, GO:0043517, GO:0043517, GO:0030512, GO:0010801, GO:0010801, GO:0010719, GO:0008543, GO:0007275, GO:0000188, GO:0000188, negative regulation of lens fiber cell differentiation, regulation of protein deacetylation, regulation of protein deacetylation, negative regulation of ERK1 and ERK2 cascade, positive regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of peptidyl-threonine phosphorylation, negative regulation of peptidyl-threonine phosphorylation, negative regulation of epithelial to mesenchymal transition, fibroblast growth factor receptor signaling pathway, multicellular organism development, inactivation of MAPK activity, inactivation of MAPK activity, 59 57 220 19 35 58 12 35 21 ENSG00000198373 chr16 69762306 69941741 + WWP2 protein_coding This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]. 11060 GO:0070062, GO:0016020, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0000151, extracellular exosome, membrane, cytosol, cytoplasm, cytoplasm, nucleus, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0008134, GO:0005515, GO:0004842, GO:0004842, GO:0001085, GO:0001085, ubiquitin protein ligase activity, ubiquitin protein ligase activity, transcription factor binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, RNA polymerase II transcription factor binding, RNA polymerase II transcription factor binding, GO:1901016, GO:0070534, GO:0070534, GO:0051865, GO:0051224, GO:0046718, GO:0045944, GO:0045892, GO:0045746, GO:0045732, GO:0043433, GO:0043161, GO:0043161, GO:0042391, GO:0034765, GO:0034765, GO:0032410, GO:0016567, GO:0016567, GO:0016567, GO:0010629, GO:0006858, GO:0006464, GO:0000209, GO:0000122, GO:0000122, GO:0000122, regulation of potassium ion transmembrane transporter activity, protein K63-linked ubiquitination, protein K63-linked ubiquitination, protein autoubiquitination, negative regulation of protein transport, viral entry into host cell, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of Notch signaling pathway, positive regulation of protein catabolic process, negative regulation of DNA-binding transcription factor activity, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of membrane potential, regulation of ion transmembrane transport, regulation of ion transmembrane transport, negative regulation of transporter activity, protein ubiquitination, protein ubiquitination, protein ubiquitination, negative regulation of gene expression, extracellular transport, cellular protein modification process, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2369 2829 2922 1281 1977 1687 1466 1632 1606 ENSG00000198380 chr2 69319769 69387254 - GFPT1 protein_coding This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]. 2673 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0097367, GO:0004360, carbohydrate derivative binding, glutamine-fructose-6-phosphate transaminase (isomerizing) activity, GO:0036498, GO:0032922, GO:0006541, GO:0006487, GO:0006112, GO:0006048, GO:0006048, GO:0006047, GO:0006002, IRE1-mediated unfolded protein response, circadian regulation of gene expression, glutamine metabolic process, protein N-linked glycosylation, energy reserve metabolic process, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine biosynthetic process, UDP-N-acetylglucosamine metabolic process, fructose 6-phosphate metabolic process, 116 102 154 107 117 169 184 92 133 ENSG00000198382 chr11 75815167 76143195 + UVRAG protein_coding This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]. 7405 GO:0070418, GO:0045335, GO:0030496, GO:0005813, GO:0005783, GO:0005770, GO:0005769, GO:0005768, GO:0005764, GO:0005737, GO:0000775, GO:0000421, GO:0000323, DNA-dependent protein kinase complex, phagocytic vesicle, midbody, centrosome, endoplasmic reticulum, late endosome, early endosome, endosome, lysosome, cytoplasm, chromosome, centromeric region, autophagosome membrane, lytic vacuole, GO:0017124, GO:0005515, GO:0000149, SH3 domain binding, protein binding, SNARE binding, GO:1901098, GO:0097680, GO:0097352, GO:0071985, GO:0071900, GO:0051684, GO:0046718, GO:0035493, GO:0032801, GO:0032465, GO:0007098, GO:0007059, GO:0007051, GO:0006914, GO:0006890, GO:0006281, positive regulation of autophagosome maturation, double-strand break repair via classical nonhomologous end joining, autophagosome maturation, multivesicular body sorting pathway, regulation of protein serine/threonine kinase activity, maintenance of Golgi location, viral entry into host cell, SNARE complex assembly, receptor catabolic process, regulation of cytokinesis, centrosome cycle, chromosome segregation, spindle organization, autophagy, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, DNA repair, 385 390 497 315 353 372 366 274 281 ENSG00000198390 chr21 30396074 30396822 + KRTAP13-1 protein_coding Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008]. 140258 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000198393 chr12 132986365 133032952 + ZNF26 protein_coding 7574 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 41 57 60 72 111 94 97 84 67 ENSG00000198398 chr3 190428655 190449876 - TMEM207 protein_coding 131920 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000198399 chr2 24202864 24360714 - ITSN2 protein_coding This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]. 50618 GO:0098793, GO:0097708, GO:0070062, GO:0042734, GO:0005905, GO:0005886, GO:0005813, GO:0005737, GO:0005737, presynapse, intracellular vesicle, extracellular exosome, presynaptic membrane, clathrin-coated pit, plasma membrane, centrosome, cytoplasm, cytoplasm, GO:0060090, GO:0005515, GO:0005509, GO:0005085, molecular adaptor activity, protein binding, calcium ion binding, guanyl-nucleotide exchange factor activity, GO:1903861, GO:0150007, GO:0016197, GO:0016032, GO:0006897, positive regulation of dendrite extension, clathrin-dependent synaptic vesicle endocytosis, endosomal transport, viral process, endocytosis, 3863 3907 5002 2802 4008 4148 3218 2781 3340 ENSG00000198400 chr1 156815640 156881850 + NTRK1 protein_coding This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]. 4914 GO:0055038, GO:0043235, GO:0043235, GO:0043025, GO:0032991, GO:0031902, GO:0031901, GO:0030425, GO:0030424, GO:0010008, GO:0009986, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005770, GO:0005769, GO:0000139, recycling endosome membrane, receptor complex, receptor complex, neuronal cell body, protein-containing complex, late endosome membrane, early endosome membrane, dendrite, axon, endosome membrane, cell surface, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, late endosome, early endosome, Golgi membrane, GO:0048406, GO:0043121, GO:0042803, GO:0042802, GO:0019900, GO:0010465, GO:0010465, GO:0005524, GO:0005515, GO:0005166, GO:0005030, GO:0005004, GO:0004714, GO:0004714, GO:0004714, GO:0004713, GO:0004713, nerve growth factor binding, neurotrophin binding, protein homodimerization activity, identical protein binding, kinase binding, nerve growth factor receptor activity, nerve growth factor receptor activity, ATP binding, protein binding, neurotrophin p75 receptor binding, neurotrophin receptor activity, GPI-linked ephrin receptor activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, transmembrane receptor protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:1990090, GO:1990090, GO:1990090, GO:1904646, GO:0071316, GO:0070374, GO:0070374, GO:0061368, GO:0060385, GO:0060009, GO:0051968, GO:0051965, GO:0051896, GO:0051602, GO:0051599, GO:0051092, GO:0050966, GO:0050965, GO:0048678, GO:0048485, GO:0048015, GO:0048013, GO:0048011, GO:0048011, GO:0046777, GO:0046579, GO:0043547, GO:0043524, GO:0043410, GO:0043068, GO:0043066, GO:0042493, GO:0042490, GO:0038180, GO:0038180, GO:0038083, GO:0033674, GO:0031667, GO:0030183, GO:0021553, GO:0018108, GO:0014068, GO:0010976, GO:0010623, GO:0009314, GO:0008285, GO:0007623, GO:0007611, GO:0007568, GO:0007411, GO:0007275, GO:0007169, GO:0006468, GO:0001934, GO:0000186, cellular response to nerve growth factor stimulus, cellular response to nerve growth factor stimulus, cellular response to nerve growth factor stimulus, cellular response to amyloid-beta, cellular response to nicotine, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, behavioral response to formalin induced pain, axonogenesis involved in innervation, Sertoli cell development, positive regulation of synaptic transmission, glutamatergic, positive regulation of synapse assembly, regulation of protein kinase B signaling, response to electrical stimulus, response to hydrostatic pressure, positive regulation of NF-kappaB transcription factor activity, detection of mechanical stimulus involved in sensory perception of pain, detection of temperature stimulus involved in sensory perception of pain, response to axon injury, sympathetic nervous system development, phosphatidylinositol-mediated signaling, ephrin receptor signaling pathway, neurotrophin TRK receptor signaling pathway, neurotrophin TRK receptor signaling pathway, protein autophosphorylation, positive regulation of Ras protein signal transduction, positive regulation of GTPase activity, negative regulation of neuron apoptotic process, positive regulation of MAPK cascade, positive regulation of programmed cell death, negative regulation of apoptotic process, response to drug, mechanoreceptor differentiation, nerve growth factor signaling pathway, nerve growth factor signaling pathway, peptidyl-tyrosine autophosphorylation, positive regulation of kinase activity, response to nutrient levels, B cell differentiation, olfactory nerve development, peptidyl-tyrosine phosphorylation, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of neuron projection development, programmed cell death involved in cell development, response to radiation, negative regulation of cell population proliferation, circadian rhythm, learning or memory, aging, axon guidance, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, protein phosphorylation, positive regulation of protein phosphorylation, activation of MAPKK activity, 1 6 1 9 0 13 18 0 2 ENSG00000198406 chr3 116645902 116646727 - BZW1P2 processed_pseudogene 14 4 9 8 6 11 9 8 8 ENSG00000198408 chr10 101784443 101818465 - OGA protein_coding The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]. 10724 GO:0016020, GO:0005829, GO:0005634, membrane, cytosol, nucleus, GO:0102571, GO:0102167, GO:0102166, GO:0016231, GO:0016231, GO:0004415, [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity, [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine O-N-acetyl-alpha-D-glucosaminase activity, [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine O-N-acetyl-alpha-D-glucosaminase activity, beta-N-acetylglucosaminidase activity, beta-N-acetylglucosaminidase activity, hyalurononglucosaminidase activity, GO:0016032, GO:0009100, GO:0006517, GO:0006516, GO:0006493, GO:0006044, viral process, glycoprotein metabolic process, protein deglycosylation, glycoprotein catabolic process, protein O-linked glycosylation, N-acetylglucosamine metabolic process, 8015 8265 11734 7682 11055 11858 8676 7150 9159 ENSG00000198414 chrX 44283916 44286246 + TATDN2P1 processed_pseudogene 1 0 2 3 0 0 0 0 0 ENSG00000198416 chr9 39443815 39508885 - ZNF658B transcribed_unprocessed_pseudogene 4 17 22 4 17 20 11 21 3 ENSG00000198417 chr16 56657694 56660698 + MT1F protein_coding 4494 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0071294, GO:0071294, GO:0071280, GO:0071276, GO:0071276, GO:0045926, GO:0010273, GO:0006882, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, cellular response to cadmium ion, negative regulation of growth, detoxification of copper ion, cellular zinc ion homeostasis, 4 0 2 0 2 2 4 0 6 ENSG00000198420 chr7 143851375 143902198 - TCAF1 protein_coding 9747 GO:0005886, GO:0005886, plasma membrane, plasma membrane, GO:0044325, GO:0044325, GO:0044325, GO:0005515, ion channel binding, ion channel binding, ion channel binding, protein binding, GO:1901529, GO:1901529, GO:0090314, GO:0090314, GO:0030336, GO:0010359, positive regulation of anion channel activity, positive regulation of anion channel activity, positive regulation of protein targeting to membrane, positive regulation of protein targeting to membrane, negative regulation of cell migration, regulation of anion channel activity, 1 8 9 19 6 20 14 4 18 ENSG00000198429 chr19 11887784 11914329 + ZNF69 protein_coding 7620 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 3 3 8 2 5 3 2 11 ENSG00000198431 chr12 104215779 104350305 + TXNRD1 protein_coding The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing, primarily at the 5' end, results in transcript variants encoding same or different isoforms, including a glutaredoxin-containing isoform that is predominantly expressed in testis. [provided by RefSeq, May 2017]. 7296 GO:0070062, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0001650, extracellular exosome, cytosol, mitochondrion, cytoplasm, nucleoplasm, fibrillar center, GO:0050660, GO:0015035, GO:0009055, GO:0005515, GO:0004791, flavin adenine dinucleotide binding, protein disulfide oxidoreductase activity, electron transfer activity, protein binding, thioredoxin-disulfide reductase activity, GO:0098869, GO:0045454, GO:0034599, GO:0022900, GO:0019216, GO:0015949, GO:0008283, GO:0007165, GO:0001887, GO:0001707, cellular oxidant detoxification, cell redox homeostasis, cellular response to oxidative stress, electron transport chain, regulation of lipid metabolic process, nucleobase-containing small molecule interconversion, cell population proliferation, signal transduction, selenium compound metabolic process, mesoderm formation, 1679 1625 1765 515 868 663 583 753 573 ENSG00000198435 chr9 137300482 137302251 - NRARP protein_coding 441478 GO:0005515, protein binding, GO:1902367, GO:0090263, GO:0090263, GO:0045746, GO:0045746, GO:0045581, GO:0032525, GO:0007219, GO:0002043, GO:0001938, GO:0001569, GO:0000122, negative regulation of Notch signaling pathway involved in somitogenesis, positive regulation of canonical Wnt signaling pathway, positive regulation of canonical Wnt signaling pathway, negative regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, negative regulation of T cell differentiation, somite rostral/caudal axis specification, Notch signaling pathway, blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of endothelial cell proliferation, branching involved in blood vessel morphogenesis, negative regulation of transcription by RNA polymerase II, 3 13 16 73 47 64 15 31 10 ENSG00000198440 chr19 56397966 56436035 + ZNF583 protein_coding 147949 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 6 6 6 9 5 4 9 13 12 ENSG00000198443 chr17 41184102 41185342 - KRTAP4-1 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 85285 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000198445 chr22 16590751 16592810 - CCT8L2 protein_coding 150160 GO:0005832, chaperonin-containing T-complex, GO:0051082, GO:0015269, GO:0005524, GO:0005253, unfolded protein binding, calcium-activated potassium channel activity, ATP binding, anion channel activity, GO:0071805, GO:0015698, GO:0006457, potassium ion transmembrane transport, inorganic anion transport, protein folding, 0 0 0 0 0 0 0 0 0 ENSG00000198452 chr1 247617143 247622372 + OR14L1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198453 chr19 36916329 36998700 + ZNF568 protein_coding 374900 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, GO:0000976, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0060669, GO:0045892, GO:0006357, GO:0001701, GO:0000122, embryonic placenta morphogenesis, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, in utero embryonic development, negative regulation of transcription by RNA polymerase II, 11 1 12 25 4 41 28 4 9 ENSG00000198454 chr9 136969243 136971990 + PRR31 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000198455 chrX 57591652 57597545 + ZXDB protein_coding The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 2010]. 158586 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003712, GO:0003674, metal ion binding, protein binding, transcription coregulator activity, molecular_function, GO:0008150, GO:0006357, biological_process, regulation of transcription by RNA polymerase II, 12 16 44 46 11 57 33 11 33 ENSG00000198464 chr19 52297177 52325922 + ZNF480 protein_coding 147657 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 22 21 24 61 30 55 43 12 25 ENSG00000198466 chr19 57849857 57865112 + ZNF587 protein_coding 84914 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 641 654 754 628 1016 897 866 646 748 ENSG00000198467 chr9 35681992 35690121 - TPM2 protein_coding This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]. 7169 GO:0015629, GO:0005884, GO:0005862, GO:0005829, actin cytoskeleton, actin filament, muscle thin filament tropomyosin, cytosol, GO:0051015, GO:0051015, GO:0046982, GO:0042803, GO:0042802, GO:0008307, GO:0003779, actin filament binding, actin filament binding, protein heterodimerization activity, protein homodimerization activity, identical protein binding, structural constituent of muscle, actin binding, GO:0043462, GO:0030049, GO:0007015, GO:0006936, GO:0006936, regulation of ATPase activity, muscle filament sliding, actin filament organization, muscle contraction, muscle contraction, 30 19 16 95 52 94 88 30 61 ENSG00000198468 chr1 212852108 212858088 - FLVCR1-DT lincRNA 642946 32 36 49 11 27 36 25 32 22 ENSG00000198471 chr3 187698259 187702557 - RTP2 protein_coding 344892 GO:0016021, GO:0009986, GO:0009986, GO:0005886, integral component of membrane, cell surface, cell surface, plasma membrane, GO:0031849, GO:0031849, GO:0005515, olfactory receptor binding, olfactory receptor binding, protein binding, GO:0051205, GO:0051205, GO:0006612, GO:0001580, protein insertion into membrane, protein insertion into membrane, protein targeting to membrane, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 2 0 ENSG00000198478 chr6 79631283 79703659 + SH3BGRL2 protein_coding 83699 GO:0031965, GO:0005654, nuclear membrane, nucleoplasm, GO:0017124, SH3 domain binding, 0 1 2 5 2 13 7 0 2 ENSG00000198482 chr19 52527652 52564464 + ZNF808 protein_coding 388558 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 122 95 127 128 169 214 163 118 159 ENSG00000198483 chr1 145866560 145885866 - ANKRD35 protein_coding 148741 0 0 1 0 0 2 0 0 2 ENSG00000198488 chr11 77034398 77041973 + B3GNT6 protein_coding The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]. 192134 GO:0016021, GO:0016020, GO:0005794, GO:0000139, integral component of membrane, membrane, Golgi apparatus, Golgi membrane, GO:0047224, GO:0047223, GO:0008532, GO:0008378, GO:0008376, GO:0008375, acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, galactosyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0030311, GO:0016269, GO:0016266, GO:0009101, GO:0006486, poly-N-acetyllactosamine biosynthetic process, O-glycan processing, core 3, O-glycan processing, glycoprotein biosynthetic process, protein glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000198491 chr3 187197090 187207629 - AC007920.1 antisense 101929106 0 0 0 0 0 0 0 0 0 ENSG00000198492 chr1 28736621 28769775 + YTHDF2 protein_coding This gene encodes a member of the YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012]. 51441 GO:0036464, GO:0034451, GO:0005829, GO:0005737, GO:0005634, GO:0000932, cytoplasmic ribonucleoprotein granule, centriolar satellite, cytosol, cytoplasm, nucleus, P-body, GO:1990247, GO:1990247, GO:0005515, GO:0003729, GO:0003723, N6-methyladenosine-containing RNA binding, N6-methyladenosine-containing RNA binding, protein binding, mRNA binding, RNA binding, GO:1903679, GO:1903538, GO:1902036, GO:0098508, GO:0071425, GO:0061157, GO:0061157, GO:0061157, GO:0060339, GO:0050767, GO:0048598, GO:0045948, GO:0045746, GO:0045087, GO:0043488, GO:0016032, GO:0006959, GO:0006402, GO:0001556, positive regulation of cap-independent translational initiation, regulation of meiotic cell cycle process involved in oocyte maturation, regulation of hematopoietic stem cell differentiation, endothelial to hematopoietic transition, hematopoietic stem cell proliferation, mRNA destabilization, mRNA destabilization, mRNA destabilization, negative regulation of type I interferon-mediated signaling pathway, regulation of neurogenesis, embryonic morphogenesis, positive regulation of translational initiation, negative regulation of Notch signaling pathway, innate immune response, regulation of mRNA stability, viral process, humoral immune response, mRNA catabolic process, oocyte maturation, 174 156 206 138 147 178 102 124 108 ENSG00000198496 chr17 43125610 43153671 + NBR2 bidirectional_promoter_lncRNA This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that the two genes share a bi-directional promoter. Transcription for either gene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading frame is observed which includes a region derived from a LINE1 element. A strong Kozak signal is not observed for the putative ORF and the stop codon is more than 55 nucleotides upstream of the last splice site for the transcript, suggesting that the transcript is subject to nonsense-mediated decay. Therefore, this gene does not appear to encode a protein. Glucose starvation induces the expression of this gene and the long non-coding RNA transcribed by it functions with AMP-activated protein kinase in mediating the energy stress response. [provided by RefSeq, Aug 2016]. 10230 33 30 30 23 29 19 33 28 22 ENSG00000198498 chr4 163494442 163520539 + TMA16 protein_coding 55319 GO:0005730, GO:0005654, GO:0005634, GO:0005634, nucleolus, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, 10 4 5 20 11 25 13 2 14 ENSG00000198502 chr6 32517343 32530287 - HLA-DRB5 protein_coding HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]. 3127 GO:0071556, GO:0070062, GO:0042613, GO:0032588, GO:0031902, GO:0030669, GO:0030666, GO:0030658, GO:0012507, GO:0005886, GO:0005765, GO:0005765, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, MHC class II protein complex, trans-Golgi network membrane, late endosome membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, ER to Golgi transport vesicle membrane, plasma membrane, lysosomal membrane, lysosomal membrane, Golgi membrane, GO:0042605, peptide antigen binding, GO:0060333, GO:0050852, GO:0019886, GO:0002250, interferon-gamma-mediated signaling pathway, T cell receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class II, adaptive immune response, 10 0 0 4 0 0 12 2 0 ENSG00000198513 chr14 50532509 50633068 + ATL1 protein_coding The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 51062 GO:0098826, GO:0071782, GO:0030424, GO:0016021, GO:0005794, GO:0005789, GO:0005783, GO:0000139, GO:0000137, endoplasmic reticulum tubular network membrane, endoplasmic reticulum tubular network, axon, integral component of membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, Golgi cis cisterna, GO:0042802, GO:0042802, GO:0005525, GO:0005525, GO:0005515, GO:0003924, GO:0003924, identical protein binding, identical protein binding, GTP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:1990809, GO:0051260, GO:0051260, GO:0007409, GO:0007029, GO:0007029, endoplasmic reticulum tubular network membrane organization, protein homooligomerization, protein homooligomerization, axonogenesis, endoplasmic reticulum organization, endoplasmic reticulum organization, 3 2 5 1 2 3 8 4 3 ENSG00000198515 chr4 47935977 48016672 - CNGA1 protein_coding The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]. 1259 GO:0042622, GO:0005887, GO:0005886, photoreceptor outer segment membrane, integral component of plasma membrane, plasma membrane, GO:0030553, GO:0005515, GO:0005223, GO:0005222, cGMP binding, protein binding, intracellular cGMP-activated cation channel activity, intracellular cAMP-activated cation channel activity, GO:0098655, GO:0022400, GO:0016056, GO:0007601, cation transmembrane transport, regulation of rhodopsin mediated signaling pathway, rhodopsin mediated signaling pathway, visual perception, 3 0 1 0 1 3 0 0 0 ENSG00000198517 chr7 1530714 1543043 + MAFK protein_coding The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]. 7975 GO:0005654, GO:0005654, GO:0005634, GO:0000785, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0071535, GO:0043565, GO:0005515, GO:0003700, GO:0001227, GO:0001221, GO:0000981, GO:0000981, GO:0000978, GO:0000976, RING-like zinc finger domain binding, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, transcription cofactor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0007596, GO:0007399, GO:0006357, GO:0000122, blood coagulation, nervous system development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 748 1083 1156 1622 1520 1606 1739 1087 1262 ENSG00000198520 chr1 44674692 44725591 + ARMH1 protein_coding 339541 15 28 58 26 21 40 20 13 6 ENSG00000198521 chr19 21804949 21852125 - ZNF43 protein_coding This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]. 7594 GO:0005634, nucleus, GO:0046872, GO:0003677, GO:0001228, GO:0000978, metal ion binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 35 15 22 25 4 8 10 5 14 ENSG00000198522 chr2 27628247 27651508 + GPN1 protein_coding This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. 11321 GO:0005829, GO:0005739, GO:0005654, cytosol, mitochondrion, nucleoplasm, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, 34 43 97 45 52 82 64 40 57 ENSG00000198523 chr6 118548298 118560730 + PLN protein_coding The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]. 5350 GO:0090534, GO:0048471, GO:0033017, GO:0033017, GO:0031982, GO:0031966, GO:0016020, GO:0005783, GO:0005739, calcium ion-transporting ATPase complex, perinuclear region of cytoplasm, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, vesicle, mitochondrial membrane, membrane, endoplasmic reticulum, mitochondrion, GO:0051117, GO:0042803, GO:0042802, GO:0042030, GO:0042030, GO:0005515, GO:0004857, ATPase binding, protein homodimerization activity, identical protein binding, ATPase inhibitor activity, ATPase inhibitor activity, protein binding, enzyme inhibitor activity, GO:1902081, GO:1901897, GO:1901895, GO:1901894, GO:1901877, GO:1901877, GO:1901020, GO:1901020, GO:0090281, GO:0086092, GO:0086036, GO:0086023, GO:0086004, GO:0060314, GO:0055119, GO:0051926, GO:0051924, GO:0051924, GO:0051480, GO:0048738, GO:0043086, GO:0033574, GO:0032868, GO:0032780, GO:0032780, GO:0010881, GO:0010459, GO:0010043, GO:0008016, GO:0008015, GO:0007219, GO:0006816, GO:0002026, negative regulation of calcium ion import into sarcoplasmic reticulum, regulation of relaxation of cardiac muscle, negative regulation of ATPase-coupled calcium transmembrane transporter activity, regulation of ATPase-coupled calcium transmembrane transporter activity, negative regulation of calcium ion binding, negative regulation of calcium ion binding, negative regulation of calcium ion transmembrane transporter activity, negative regulation of calcium ion transmembrane transporter activity, negative regulation of calcium ion import, regulation of the force of heart contraction by cardiac conduction, regulation of cardiac muscle cell membrane potential, adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process, regulation of cardiac muscle cell contraction, regulation of ryanodine-sensitive calcium-release channel activity, relaxation of cardiac muscle, negative regulation of calcium ion transport, regulation of calcium ion transport, regulation of calcium ion transport, regulation of cytosolic calcium ion concentration, cardiac muscle tissue development, negative regulation of catalytic activity, response to testosterone, response to insulin, negative regulation of ATPase activity, negative regulation of ATPase activity, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, negative regulation of heart rate, response to zinc ion, regulation of heart contraction, blood circulation, Notch signaling pathway, calcium ion transport, regulation of the force of heart contraction, 4 12 7 0 9 12 11 7 7 ENSG00000198526 chr2 146587506 146589310 + PABPC1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198535 chr15 62066977 62070917 + C2CD4A protein_coding 145741 GO:0005634, nucleus, GO:0030155, GO:0002675, GO:0002528, regulation of cell adhesion, positive regulation of acute inflammatory response, regulation of vascular permeability involved in acute inflammatory response, 0 0 0 2 0 0 0 0 0 ENSG00000198538 chr19 52797409 52857600 - ZNF28 protein_coding 7576 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 64 22 49 106 38 69 111 34 33 ENSG00000198542 chr13 101452593 101720856 + ITGBL1 protein_coding This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 9358 GO:0009986, GO:0008305, GO:0005925, GO:0005886, GO:0005576, cell surface, integrin complex, focal adhesion, plasma membrane, extracellular region, GO:0005178, integrin binding, GO:0033627, GO:0016477, GO:0007229, GO:0007160, GO:0007155, cell adhesion mediated by integrin, cell migration, integrin-mediated signaling pathway, cell-matrix adhesion, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000198546 chr10 133308475 133313162 + ZNF511 protein_coding 118472 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003677, GO:0000981, metal ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 54 60 54 35 43 65 41 46 57 ENSG00000198547 chr20 32631652 32673941 - C20orf203 protein_coding The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer's disease. [provided by RefSeq, Mar 2017]. 284805 GO:0005737, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000198551 chr19 11559374 11619135 + ZNF627 protein_coding 199692 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 104 109 120 31 35 33 27 23 22 ENSG00000198553 chr13 50015254 50020922 + KCNRG protein_coding This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 283518 GO:0005783, GO:0005783, endoplasmic reticulum, endoplasmic reticulum, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:1902260, GO:1902260, GO:0051260, negative regulation of delayed rectifier potassium channel activity, negative regulation of delayed rectifier potassium channel activity, protein homooligomerization, 7 8 8 7 16 0 4 2 9 ENSG00000198554 chr14 54938950 55027105 - WDHD1 protein_coding The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 11169 GO:0043596, GO:0005737, GO:0005654, nuclear replication fork, cytoplasm, nucleoplasm, GO:0005515, GO:0003682, GO:0003677, protein binding, chromatin binding, DNA binding, GO:0006281, GO:0006261, GO:0000278, DNA repair, DNA-dependent DNA replication, mitotic cell cycle, 0 1 5 15 3 18 15 5 5 ENSG00000198555 chr16 33976039 33987630 + AC133561.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198556 chr7 99472841 99503650 + ZNF789 protein_coding 285989 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 63 96 69 116 116 173 143 80 103 ENSG00000198561 chr11 57753243 57819546 + CTNND1 protein_coding This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]. 1500 GO:0098978, GO:0098831, GO:0098686, GO:0098685, GO:0070062, GO:0043197, GO:0030496, GO:0030426, GO:0030027, GO:0016342, GO:0005915, GO:0005912, GO:0005911, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, glutamatergic synapse, presynaptic active zone cytoplasmic component, hippocampal mossy fiber to CA3 synapse, Schaffer collateral - CA1 synapse, extracellular exosome, dendritic spine, midbody, growth cone, lamellipodium, catenin complex, zonula adherens, adherens junction, cell-cell junction, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0045296, GO:0045296, GO:0045296, GO:0019901, GO:0005515, GO:0005102, cadherin binding, cadherin binding, cadherin binding, protein kinase binding, protein binding, signaling receptor binding, GO:0099072, GO:0099072, GO:0098609, GO:0090090, GO:0050821, GO:0044331, GO:0035635, GO:0034332, GO:0016055, GO:0007420, GO:0007043, regulation of postsynaptic membrane neurotransmitter receptor levels, regulation of postsynaptic membrane neurotransmitter receptor levels, cell-cell adhesion, negative regulation of canonical Wnt signaling pathway, protein stabilization, cell-cell adhesion mediated by cadherin, entry of bacterium into host cell, adherens junction organization, Wnt signaling pathway, brain development, cell-cell junction assembly, 22 37 51 39 47 52 34 43 46 ENSG00000198563 chr6 31530219 31542448 - DDX39B protein_coding This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]. 7919 GO:0016607, GO:0016363, GO:0005737, GO:0005688, GO:0005687, GO:0005681, GO:0005654, GO:0005634, GO:0000346, nuclear speck, nuclear matrix, cytoplasm, U6 snRNP, U4 snRNP, spliceosomal complex, nucleoplasm, nucleus, transcription export complex, GO:0044877, GO:0043008, GO:0042802, GO:0030621, GO:0017070, GO:0016887, GO:0008186, GO:0005524, GO:0005515, GO:0003724, GO:0003724, GO:0003723, GO:0003723, protein-containing complex binding, ATP-dependent protein binding, identical protein binding, U4 snRNA binding, U6 snRNA binding, ATPase activity, RNA-dependent ATPase activity, ATP binding, protein binding, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, GO:2000573, GO:2000002, GO:1904707, GO:0061051, GO:0046784, GO:0045727, GO:0032786, GO:0031124, GO:0010501, GO:0008380, GO:0006406, GO:0006406, GO:0006406, GO:0006405, GO:0001889, GO:0000398, GO:0000398, GO:0000245, positive regulation of DNA biosynthetic process, negative regulation of DNA damage checkpoint, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of cell growth involved in cardiac muscle cell development, viral mRNA export from host cell nucleus, positive regulation of translation, positive regulation of DNA-templated transcription, elongation, mRNA 3'-end processing, RNA secondary structure unwinding, RNA splicing, mRNA export from nucleus, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, liver development, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal complex assembly, 13 11 17 14 18 14 9 10 14 ENSG00000198569 chr9 137230757 137236554 + SLC34A3 protein_coding This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]. 142680 GO:0031982, GO:0031526, GO:0016324, GO:0016324, GO:0016021, GO:0005903, GO:0005886, vesicle, brush border membrane, apical plasma membrane, apical plasma membrane, integral component of membrane, brush border, plasma membrane, GO:0005515, GO:0005436, GO:0005436, protein binding, sodium:phosphate symporter activity, sodium:phosphate symporter activity, GO:0044341, GO:0035725, GO:0030643, GO:0030643, GO:0006817, GO:0006814, sodium-dependent phosphate transport, sodium ion transmembrane transport, cellular phosphate ion homeostasis, cellular phosphate ion homeostasis, phosphate ion transport, sodium ion transport, 0 0 0 2 0 0 0 0 0 ENSG00000198570 chr1 211476522 211492917 - RD3 protein_coding This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 343035 GO:0120200, GO:0120199, GO:0048471, GO:0005768, GO:0005737, GO:0005634, GO:0001917, GO:0001750, rod photoreceptor outer segment, cone photoreceptor outer segment, perinuclear region of cytoplasm, endosome, cytoplasm, nucleus, photoreceptor inner segment, photoreceptor outer segment, GO:0005515, protein binding, GO:0060041, GO:0060041, GO:0050896, GO:0031283, GO:0015031, GO:0007601, retina development in camera-type eye, retina development in camera-type eye, response to stimulus, negative regulation of guanylate cyclase activity, protein transport, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000198573 chrX 141241463 141242496 - SPANXC protein_coding Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. [provided by RefSeq, Jul 2008]. 64663 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000198574 chr1 162395266 162412138 - SH2D1B protein_coding By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]. 117157 GO:0005829, cytosol, GO:0030674, GO:0005515, protein-macromolecule adaptor activity, protein binding, GO:0050776, GO:0045089, GO:0045087, GO:0002717, GO:0002366, GO:0002250, regulation of immune response, positive regulation of innate immune response, innate immune response, positive regulation of natural killer cell mediated immunity, leukocyte activation involved in immune response, adaptive immune response, 15 12 14 46 47 62 31 35 38 ENSG00000198576 chr8 142611044 142614472 - ARC protein_coding 23237 GO:1903561, GO:0098978, GO:0098845, GO:0098839, GO:0045121, GO:0043197, GO:0043025, GO:0031901, GO:0015629, GO:0005938, GO:0005886, GO:0005886, GO:0005737, GO:0005737, GO:0001669, extracellular vesicle, glutamatergic synapse, postsynaptic endosome, postsynaptic density membrane, membrane raft, dendritic spine, neuronal cell body, early endosome membrane, actin cytoskeleton, cell cortex, plasma membrane, plasma membrane, cytoplasm, cytoplasm, acrosomal vesicle, GO:0005515, GO:0003729, protein binding, mRNA binding, GO:2000969, GO:1900452, GO:1900271, GO:1900271, GO:0110077, GO:0061001, GO:0060997, GO:0060291, GO:0051260, GO:0051028, GO:0050804, GO:0048168, GO:0022604, GO:0016477, GO:0009952, GO:0007616, GO:0007616, GO:0007612, GO:0007492, GO:0007010, GO:0007010, GO:0006897, positive regulation of AMPA receptor activity, regulation of long-term synaptic depression, regulation of long-term synaptic potentiation, regulation of long-term synaptic potentiation, vesicle-mediated intercellular transport, regulation of dendritic spine morphogenesis, dendritic spine morphogenesis, long-term synaptic potentiation, protein homooligomerization, mRNA transport, modulation of chemical synaptic transmission, regulation of neuronal synaptic plasticity, regulation of cell morphogenesis, cell migration, anterior/posterior pattern specification, long-term memory, long-term memory, learning, endoderm development, cytoskeleton organization, cytoskeleton organization, endocytosis, 0 0 1 3 5 10 6 0 3 ENSG00000198580 chr7 6673494 6676366 + AC073343.1 unprocessed_pseudogene 5 4 2 0 0 2 1 3 1 ENSG00000198585 chr3 131381671 131388830 + NUDT16 protein_coding 131870 GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005634, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleus, GO:1990174, GO:1990174, GO:1990003, GO:1901641, GO:1901640, GO:0098519, GO:0098519, GO:0050897, GO:0050072, GO:0050072, GO:0042803, GO:0042802, GO:0035870, GO:0031404, GO:0030515, GO:0030515, GO:0030145, GO:0008235, GO:0005525, GO:0003729, GO:0000287, phosphodiesterase decapping endonuclease activity, phosphodiesterase decapping endonuclease activity, inosine-diphosphatase activity, ITP binding, XTP binding, nucleotide phosphatase activity, acting on free nucleotides, nucleotide phosphatase activity, acting on free nucleotides, cobalt ion binding, m7G(5')pppN diphosphatase activity, m7G(5')pppN diphosphatase activity, protein homodimerization activity, identical protein binding, dITP diphosphatase activity, chloride ion binding, snoRNA binding, snoRNA binding, manganese ion binding, metalloexopeptidase activity, GTP binding, mRNA binding, magnesium ion binding, GO:2000781, GO:2000233, GO:1901639, GO:0090502, GO:0090068, GO:0046709, GO:0035863, GO:0034656, GO:0016311, GO:0016077, GO:0016077, GO:0008284, GO:0006508, GO:0006402, GO:0006402, GO:0006382, positive regulation of double-strand break repair, negative regulation of rRNA processing, XDP catabolic process, RNA phosphodiester bond hydrolysis, endonucleolytic, positive regulation of cell cycle process, IDP catabolic process, dITP catabolic process, nucleobase-containing small molecule catabolic process, dephosphorylation, snoRNA catabolic process, snoRNA catabolic process, positive regulation of cell population proliferation, proteolysis, mRNA catabolic process, mRNA catabolic process, adenosine to inosine editing, 358 400 308 210 360 301 263 281 254 ENSG00000198586 chr2 170990823 171231314 - TLK1 protein_coding The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 9874 GO:0005654, GO:0005634, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0035556, GO:0035556, GO:0018105, GO:0007059, GO:0007049, GO:0006974, GO:0006886, GO:0006468, GO:0006325, GO:0001672, GO:0001672, intracellular signal transduction, intracellular signal transduction, peptidyl-serine phosphorylation, chromosome segregation, cell cycle, cellular response to DNA damage stimulus, intracellular protein transport, protein phosphorylation, chromatin organization, regulation of chromatin assembly or disassembly, regulation of chromatin assembly or disassembly, 375 342 460 272 339 399 365 313 367 ENSG00000198589 chr4 150264531 151015727 - LRBA protein_coding The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 987 GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005829, GO:0005794, GO:0005783, GO:0005764, integral component of membrane, membrane, membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, lysosome, GO:0019901, GO:0003674, protein kinase binding, molecular_function, GO:0008150, GO:0008104, biological_process, protein localization, 118 94 199 214 63 227 294 73 221 ENSG00000198590 chr3 37386269 37435497 + C3orf35 processed_transcript 339883 GO:0016021, integral component of membrane, 11 8 4 17 12 13 17 14 10 ENSG00000198597 chr19 30228290 30713538 + ZNF536 protein_coding The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]. 9745 GO:0005634, nucleus, GO:0046872, GO:0044323, GO:0001227, GO:0000981, GO:0000978, GO:0000978, metal ion binding, retinoic acid-responsive element binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048387, GO:0045665, GO:0006355, GO:0000122, negative regulation of retinoic acid receptor signaling pathway, negative regulation of neuron differentiation, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000198598 chr12 131828393 131851783 + MMP17 protein_coding This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein is unique among the membrane-type matrix metalloproteinases in that it is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. Elevated expression of the encoded protein has been observed in osteoarthritis and multiple human cancers. [provided by RefSeq, Jan 2016]. 4326 GO:0031225, GO:0031012, GO:0005886, anchored component of membrane, extracellular matrix, plasma membrane, GO:0070006, GO:0008270, GO:0008047, GO:0004222, metalloaminopeptidase activity, zinc ion binding, enzyme activator activity, metalloendopeptidase activity, GO:0043085, GO:0042756, GO:0030574, GO:0030198, GO:0006508, GO:0001822, positive regulation of catalytic activity, drinking behavior, collagen catabolic process, extracellular matrix organization, proteolysis, kidney development, 0 5 3 3 10 5 3 8 0 ENSG00000198601 chr1 248174821 248181067 + OR2M2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391194 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000198604 chr14 34752731 34875647 - BAZ1A protein_coding The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]. 11177 GO:0016590, GO:0008623, ACF complex, CHRAC, GO:0046872, GO:0005515, GO:0004402, metal ion binding, protein binding, histone acetyltransferase activity, GO:0016573, GO:0006357, GO:0006338, GO:0006261, histone acetylation, regulation of transcription by RNA polymerase II, chromatin remodeling, DNA-dependent DNA replication, 4562 3812 4983 2261 3157 2775 2532 2545 2441 ENSG00000198610 chr10 5195462 5218949 + AKR1C4 protein_coding This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]. 1109 GO:0070062, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytosol, cytoplasm, GO:0047743, GO:0047086, GO:0047023, GO:0047023, GO:0032052, GO:0016655, GO:0016229, GO:0015125, GO:0009055, GO:0004033, GO:0004032, GO:0001758, chlordecone reductase activity, ketosteroid monooxygenase activity, androsterone dehydrogenase activity, androsterone dehydrogenase activity, bile acid binding, oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor, steroid dehydrogenase activity, bile acid transmembrane transporter activity, electron transfer activity, aldo-keto reductase (NADP) activity, alditol:NADP+ 1-oxidoreductase activity, retinal dehydrogenase activity, GO:0071395, GO:0044598, GO:0044598, GO:0044597, GO:0044597, GO:0042448, GO:0022900, GO:0015721, GO:0008209, GO:0008202, GO:0006699, GO:0006693, GO:0001523, cellular response to jasmonic acid stimulus, doxorubicin metabolic process, doxorubicin metabolic process, daunorubicin metabolic process, daunorubicin metabolic process, progesterone metabolic process, electron transport chain, bile acid and bile salt transport, androgen metabolic process, steroid metabolic process, bile acid biosynthetic process, prostaglandin metabolic process, retinoid metabolic process, 1 2 0 1 0 0 0 0 3 ENSG00000198612 chr2 237085312 237100466 + COPS8 protein_coding The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 10920 GO:0070062, GO:0048471, GO:0008180, GO:0008180, GO:0005829, GO:0005829, GO:0005654, GO:0005654, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, COP9 signalosome, COP9 signalosome, cytosol, cytosol, nucleoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0043687, GO:0010387, GO:0008285, GO:0007250, GO:0006468, GO:0006283, GO:0000715, GO:0000338, post-translational protein modification, COP9 signalosome assembly, negative regulation of cell population proliferation, activation of NF-kappaB-inducing kinase activity, protein phosphorylation, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA damage recognition, protein deneddylation, 53 63 81 88 53 102 52 53 106 ENSG00000198618 chr21 18857779 18858276 + PPIAP22 processed_pseudogene 61 16 30 28 32 41 11 83 31 ENSG00000198624 chr5 151181052 151224145 - CCDC69 protein_coding 26112 GO:0051233, GO:0030496, GO:0005737, GO:0005634, spindle midzone, midbody, cytoplasm, nucleus, GO:0008017, microtubule binding, GO:0051255, spindle midzone assembly, 1713 1940 1988 743 1161 1128 886 1073 800 ENSG00000198625 chr1 204516379 204558120 + MDM4 protein_coding This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]. 4194 GO:0005654, GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0019899, GO:0008270, GO:0005515, GO:0001228, enzyme binding, zinc ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, GO:1901796, GO:0071456, GO:0071157, GO:0065003, GO:0050821, GO:0045944, GO:0043066, GO:0042177, GO:0030330, GO:0016579, GO:0008285, GO:0006977, GO:0006357, GO:0003283, GO:0003281, GO:0003203, GO:0003181, GO:0003170, GO:0000122, regulation of signal transduction by p53 class mediator, cellular response to hypoxia, negative regulation of cell cycle arrest, protein-containing complex assembly, protein stabilization, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, negative regulation of protein catabolic process, DNA damage response, signal transduction by p53 class mediator, protein deubiquitination, negative regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, regulation of transcription by RNA polymerase II, atrial septum development, ventricular septum development, endocardial cushion morphogenesis, atrioventricular valve morphogenesis, heart valve development, negative regulation of transcription by RNA polymerase II, 1673 1690 2230 1831 2256 2610 2065 1445 1910 ENSG00000198626 chr1 237042205 237833988 + RYR2 protein_coding This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]. 6262 GO:0042383, GO:0034704, GO:0034704, GO:0033017, GO:0033017, GO:0033017, GO:0032991, GO:0030659, GO:0030018, GO:0030018, GO:0030018, GO:0016529, GO:0016020, GO:0014701, GO:0005886, GO:0005886, GO:0005790, sarcolemma, calcium channel complex, calcium channel complex, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, protein-containing complex, cytoplasmic vesicle membrane, Z disc, Z disc, Z disc, sarcoplasmic reticulum, membrane, junctional sarcoplasmic reticulum membrane, plasma membrane, plasma membrane, smooth endoplasmic reticulum, GO:0048763, GO:0048763, GO:0044325, GO:0043924, GO:0043621, GO:0042802, GO:0034237, GO:0034236, GO:0019899, GO:0015278, GO:0015278, GO:0005516, GO:0005516, GO:0005516, GO:0005516, GO:0005515, GO:0005509, GO:0005262, GO:0005219, GO:0005219, calcium-induced calcium release activity, calcium-induced calcium release activity, ion channel binding, suramin binding, protein self-association, identical protein binding, protein kinase A regulatory subunit binding, protein kinase A catalytic subunit binding, enzyme binding, calcium-release channel activity, calcium-release channel activity, calmodulin binding, calmodulin binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, calcium channel activity, ryanodine-sensitive calcium-release channel activity, ryanodine-sensitive calcium-release channel activity, GO:1903779, GO:1901896, GO:0098911, GO:0098910, GO:0098907, GO:0098904, GO:0098735, GO:0097050, GO:0086064, GO:0086029, GO:0086005, GO:0072599, GO:0071872, GO:0071872, GO:0071313, GO:0071313, GO:0070296, GO:0060402, GO:0060048, GO:0055117, GO:0051775, GO:0051480, GO:0051284, GO:0051209, GO:0051209, GO:0051209, GO:0035994, GO:0035584, GO:0034220, GO:0031000, GO:0019722, GO:0014850, GO:0014808, GO:0014808, GO:0010882, GO:0010881, GO:0010881, GO:0010460, GO:0006874, GO:0006816, GO:0005513, GO:0003300, GO:0003220, GO:0003143, GO:0002027, GO:0001666, regulation of cardiac conduction, positive regulation of ATPase-coupled calcium transmembrane transporter activity, regulation of ventricular cardiac muscle cell action potential, regulation of atrial cardiac muscle cell action potential, regulation of SA node cell action potential, regulation of AV node cell action potential, positive regulation of the force of heart contraction, type B pancreatic cell apoptotic process, cell communication by electrical coupling involved in cardiac conduction, Purkinje myocyte to ventricular cardiac muscle cell signaling, ventricular cardiac muscle cell action potential, establishment of protein localization to endoplasmic reticulum, cellular response to epinephrine stimulus, cellular response to epinephrine stimulus, cellular response to caffeine, cellular response to caffeine, sarcoplasmic reticulum calcium ion transport, calcium ion transport into cytosol, cardiac muscle contraction, regulation of cardiac muscle contraction, response to redox state, regulation of cytosolic calcium ion concentration, positive regulation of sequestering of calcium ion, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, release of sequestered calcium ion into cytosol, response to muscle stretch, calcium-mediated signaling using intracellular calcium source, ion transmembrane transport, response to caffeine, calcium-mediated signaling, response to muscle activity, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of cardiac muscle contraction by calcium ion signaling, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, positive regulation of heart rate, cellular calcium ion homeostasis, calcium ion transport, detection of calcium ion, cardiac muscle hypertrophy, left ventricular cardiac muscle tissue morphogenesis, embryonic heart tube morphogenesis, regulation of heart rate, response to hypoxia, 0 0 1 0 0 0 0 0 0 ENSG00000198633 chr19 52429187 52452315 + ZNF534 protein_coding 147658 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000198642 chr9 21329671 21335380 - KLHL9 protein_coding This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]. 55958 GO:0031463, GO:0030496, GO:0030496, GO:0005829, Cul3-RING ubiquitin ligase complex, midbody, midbody, cytosol, GO:0097602, GO:0004842, cullin family protein binding, ubiquitin-protein transferase activity, GO:0051301, GO:0043687, GO:0032465, GO:0016567, GO:0016567, GO:0007049, cell division, post-translational protein modification, regulation of cytokinesis, protein ubiquitination, protein ubiquitination, cell cycle, 301 204 446 222 141 197 192 152 220 ENSG00000198643 chr3 58633946 58666848 - FAM3D protein_coding 131177 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005125, cytokine activity, GO:0070093, GO:0046676, GO:0007165, negative regulation of glucagon secretion, negative regulation of insulin secretion, signal transduction, 7 2 7 1 4 6 1 9 5 ENSG00000198646 chr20 34689097 34825649 - NCOA6 protein_coding The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]. 23054 GO:0043231, GO:0035097, GO:0035097, GO:0005829, GO:0005667, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, histone methyltransferase complex, histone methyltransferase complex, cytosol, transcription regulator complex, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0051427, GO:0046966, GO:0046965, GO:0030374, GO:0030374, GO:0030331, GO:0019899, GO:0005515, GO:0003713, GO:0003682, hormone receptor binding, thyroid hormone receptor binding, retinoid X receptor binding, nuclear receptor coactivator activity, nuclear receptor coactivator activity, estrogen receptor binding, enzyme binding, protein binding, transcription coactivator activity, chromatin binding, GO:0045944, GO:0045944, GO:0045893, GO:0030099, GO:0019216, GO:0009725, GO:0007507, GO:0007420, GO:0006974, GO:0006352, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, myeloid cell differentiation, regulation of lipid metabolic process, response to hormone, heart development, brain development, cellular response to DNA damage stimulus, DNA-templated transcription, initiation, 886 1042 975 423 647 658 463 564 501 ENSG00000198648 chr2 167954020 168248141 - STK39 protein_coding This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]. 27347 GO:0043231, GO:0019898, GO:0005856, GO:0005829, GO:0005829, GO:0005829, GO:0005654, intracellular membrane-bounded organelle, extrinsic component of membrane, cytoskeleton, cytosol, cytosol, cytosol, nucleoplasm, GO:0106311, GO:0106310, GO:0019901, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, protein kinase binding, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:2000650, GO:1990869, GO:1905408, GO:1901380, GO:1901017, GO:0071476, GO:0046777, GO:0046777, GO:0043268, GO:0038146, GO:0036438, GO:0035556, GO:0032414, GO:0023016, GO:0023014, GO:0018107, GO:0018107, GO:0018107, GO:0018105, GO:0018105, GO:0010820, GO:0006468, GO:0000187, negative regulation of sodium ion transmembrane transporter activity, cellular response to chemokine, negative regulation of creatine transmembrane transporter activity, negative regulation of potassium ion transmembrane transport, negative regulation of potassium ion transmembrane transporter activity, cellular hypotonic response, protein autophosphorylation, protein autophosphorylation, positive regulation of potassium ion transport, chemokine (C-X-C motif) ligand 12 signaling pathway, maintenance of lens transparency, intracellular signal transduction, positive regulation of ion transmembrane transporter activity, signal transduction by trans-phosphorylation, signal transduction by protein phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, positive regulation of T cell chemotaxis, protein phosphorylation, activation of MAPK activity, 61 34 79 112 32 149 91 28 76 ENSG00000198650 chr16 71565660 71577130 - TAT protein_coding This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]. 6898 GO:0005829, GO:0005739, GO:0005575, cytosol, mitochondrion, cellular_component, GO:0042802, GO:0030170, GO:0016597, GO:0005515, GO:0004838, GO:0004838, identical protein binding, pyridoxal phosphate binding, amino acid binding, protein binding, L-tyrosine:2-oxoglutarate aminotransferase activity, L-tyrosine:2-oxoglutarate aminotransferase activity, GO:0051384, GO:0046689, GO:0009058, GO:0006979, GO:0006572, GO:0006559, GO:0006559, GO:0006536, GO:0006103, response to glucocorticoid, response to mercury ion, biosynthetic process, response to oxidative stress, tyrosine catabolic process, L-phenylalanine catabolic process, L-phenylalanine catabolic process, glutamate metabolic process, 2-oxoglutarate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000198658 chr1 148146395 148149566 + ABHD17AP1 unprocessed_pseudogene 7 2 7 3 3 4 2 2 1 ENSG00000198663 chr6 36871870 36928964 + C6orf89 protein_coding 221477 GO:0030496, GO:0016021, GO:0005886, GO:0005737, GO:0005730, GO:0000139, GO:0000139, midbody, integral component of membrane, plasma membrane, cytoplasm, nucleolus, Golgi membrane, Golgi membrane, GO:0005515, protein binding, GO:1901727, GO:1901727, GO:0050673, GO:0045787, GO:0042060, positive regulation of histone deacetylase activity, positive regulation of histone deacetylase activity, epithelial cell proliferation, positive regulation of cell cycle, wound healing, 1002 1063 1176 379 653 517 387 486 364 ENSG00000198668 chr14 90396502 90408261 + CALM1 protein_coding This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]. 801 GO:1902494, GO:0043209, GO:0034704, GO:0032991, GO:0031982, GO:0031966, GO:0030672, GO:0030426, GO:0030017, GO:0008076, GO:0005886, GO:0005876, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005576, GO:0000922, catalytic complex, myelin sheath, calcium channel complex, protein-containing complex, vesicle, mitochondrial membrane, synaptic vesicle membrane, growth cone, sarcomere, voltage-gated potassium channel complex, plasma membrane, spindle microtubule, cytosol, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleus, extracellular region, spindle pole, GO:0097718, GO:0072542, GO:0050998, GO:0048306, GO:0044325, GO:0043548, GO:0043539, GO:0031997, GO:0031800, GO:0031432, GO:0030235, GO:0030234, GO:0019904, GO:0019901, GO:0019855, GO:0010856, GO:0008179, GO:0005515, GO:0005509, GO:0005509, disordered domain specific binding, protein phosphatase activator activity, nitric-oxide synthase binding, calcium-dependent protein binding, ion channel binding, phosphatidylinositol 3-kinase binding, protein serine/threonine kinase activator activity, N-terminal myristoylation domain binding, type 3 metabotropic glutamate receptor binding, titin binding, nitric-oxide synthase regulator activity, enzyme regulator activity, protein domain specific binding, protein kinase binding, calcium channel inhibitor activity, adenylate cyclase activator activity, adenylate cyclase binding, protein binding, calcium ion binding, calcium ion binding, GO:2000300, GO:1901844, GO:1901842, GO:1900242, GO:0098901, GO:0090151, GO:0071902, GO:0060316, GO:0060315, GO:0060314, GO:0055117, GO:0051592, GO:0051412, GO:0051343, GO:0051000, GO:0050999, GO:0043647, GO:0043388, GO:0038095, GO:0035307, GO:0032516, GO:0032465, GO:0031954, GO:0022400, GO:0021762, GO:0019722, GO:0016032, GO:0010881, GO:0010880, GO:0010801, GO:0010800, GO:0007223, GO:0007190, GO:0007186, GO:0006936, GO:0005980, GO:0005513, GO:0002576, GO:0002027, GO:0001975, GO:0000226, GO:0000165, GO:0000086, regulation of synaptic vesicle exocytosis, regulation of cell communication by electrical coupling involved in cardiac conduction, negative regulation of high voltage-gated calcium channel activity, regulation of synaptic vesicle endocytosis, regulation of cardiac muscle cell action potential, establishment of protein localization to mitochondrial membrane, positive regulation of protein serine/threonine kinase activity, positive regulation of ryanodine-sensitive calcium-release channel activity, negative regulation of ryanodine-sensitive calcium-release channel activity, regulation of ryanodine-sensitive calcium-release channel activity, regulation of cardiac muscle contraction, response to calcium ion, response to corticosterone, positive regulation of cyclic-nucleotide phosphodiesterase activity, positive regulation of nitric-oxide synthase activity, regulation of nitric-oxide synthase activity, inositol phosphate metabolic process, positive regulation of DNA binding, Fc-epsilon receptor signaling pathway, positive regulation of protein dephosphorylation, positive regulation of phosphoprotein phosphatase activity, regulation of cytokinesis, positive regulation of protein autophosphorylation, regulation of rhodopsin mediated signaling pathway, substantia nigra development, calcium-mediated signaling, viral process, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, negative regulation of peptidyl-threonine phosphorylation, positive regulation of peptidyl-threonine phosphorylation, Wnt signaling pathway, calcium modulating pathway, activation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, muscle contraction, glycogen catabolic process, detection of calcium ion, platelet degranulation, regulation of heart rate, response to amphetamine, microtubule cytoskeleton organization, MAPK cascade, G2/M transition of mitotic cell cycle, 2526 2681 3458 2355 2690 2991 2092 2099 2110 ENSG00000198670 chr6 160531483 160664259 - LPA protein_coding The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]. 4018 GO:0034358, GO:0005576, GO:0005576, plasma lipoprotein particle, extracellular region, extracellular region, GO:0034185, GO:0008201, GO:0005515, GO:0004866, GO:0004252, GO:0004252, GO:0001968, apolipoprotein binding, heparin binding, protein binding, endopeptidase inhibitor activity, serine-type endopeptidase activity, serine-type endopeptidase activity, fibronectin binding, GO:0034374, GO:0010951, GO:0008015, GO:0006869, GO:0006629, GO:0006508, low-density lipoprotein particle remodeling, negative regulation of endopeptidase activity, blood circulation, lipid transport, lipid metabolic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000198671 chr12 65017468 65054124 + AC135895.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000198673 chr12 61708259 62279150 - FAM19A2 protein_coding This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]. 338811 GO:0005737, GO:0005634, GO:0005615, cytoplasm, nucleus, extracellular space, GO:0048018, receptor ligand activity, GO:0008542, GO:0007613, GO:0007165, visual learning, memory, signal transduction, 153 91 117 73 109 111 104 100 69 ENSG00000198674 chr11 123994163 123995161 - OR10G6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79490 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000198677 chr5 95461755 95555007 - TTC37 protein_coding This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]. 9652 GO:0055087, GO:0055087, GO:0035327, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, Ski complex, Ski complex, transcriptionally active chromatin, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0043928, GO:0034427, exonucleolytic catabolism of deadenylated mRNA, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', 67 52 106 213 69 289 160 75 172 ENSG00000198678 chr12 48559882 48562956 + OR5BS1P protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000198680 chr9 25676389 25678440 - TUSC1 protein_coding This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008]. 286319 0 0 0 0 0 0 0 0 0 ENSG00000198681 chrX 153179285 153183880 + MAGEA1 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]. 4100 GO:0005886, GO:0005737, GO:0005634, plasma membrane, cytoplasm, nucleus, GO:0042826, GO:0005515, histone deacetylase binding, protein binding, GO:0045746, GO:0000122, negative regulation of Notch signaling pathway, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000198682 chr10 87659613 87747705 + PAPSS2 protein_coding Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 9060 GO:0005829, cytosol, GO:0016779, GO:0005524, GO:0005515, GO:0004781, GO:0004020, nucleotidyltransferase activity, ATP binding, protein binding, sulfate adenylyltransferase (ATP) activity, adenylylsulfate kinase activity, GO:0060348, GO:0050428, GO:0050428, GO:0016310, GO:0007596, GO:0001501, GO:0000103, GO:0000103, bone development, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process, phosphorylation, blood coagulation, skeletal system development, sulfate assimilation, sulfate assimilation, 25 29 45 29 31 27 13 14 29 ENSG00000198685 chr3 128572000 128576086 - LINC01565 lincRNA 23434 0 0 0 0 0 0 0 0 7 ENSG00000198689 chrX 135973841 136047269 + SLC9A6 protein_coding This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]. 10479 GO:0055038, GO:0055037, GO:0044308, GO:0043679, GO:0043231, GO:0031901, GO:0031901, GO:0030425, GO:0016021, GO:0005886, GO:0005886, GO:0005789, GO:0005770, GO:0005739, recycling endosome membrane, recycling endosome, axonal spine, axon terminus, intracellular membrane-bounded organelle, early endosome membrane, early endosome membrane, dendrite, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, late endosome, mitochondrion, GO:0015386, GO:0015385, potassium:proton antiporter activity, sodium:proton antiporter activity, GO:1902600, GO:0098719, GO:0098656, GO:0097484, GO:0071805, GO:0060996, GO:0051453, GO:0051453, GO:0051386, GO:0050808, GO:0048812, GO:0048675, GO:0031547, GO:0006811, proton transmembrane transport, sodium ion import across plasma membrane, anion transmembrane transport, dendrite extension, potassium ion transmembrane transport, dendritic spine development, regulation of intracellular pH, regulation of intracellular pH, regulation of neurotrophin TRK receptor signaling pathway, synapse organization, neuron projection morphogenesis, axon extension, brain-derived neurotrophic factor receptor signaling pathway, ion transport, 130 108 182 80 90 144 107 81 97 ENSG00000198690 chr15 30903852 30943108 + FAN1 protein_coding This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]. 22909 GO:0045171, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intercellular bridge, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0140036, GO:0070336, GO:0070336, GO:0017108, GO:0017108, GO:0008409, GO:0008409, GO:0005515, GO:0004528, GO:0000287, ubiquitin-dependent protein binding, flap-structured DNA binding, flap-structured DNA binding, 5'-flap endonuclease activity, 5'-flap endonuclease activity, 5'-3' exonuclease activity, 5'-3' exonuclease activity, protein binding, phosphodiesterase I activity, magnesium ion binding, GO:0036297, GO:0036297, GO:0036297, GO:0033683, GO:0033683, GO:0006289, GO:0006281, GO:0000724, interstrand cross-link repair, interstrand cross-link repair, interstrand cross-link repair, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA incision, nucleotide-excision repair, DNA repair, double-strand break repair via homologous recombination, 13 8 17 33 16 49 31 21 28 ENSG00000198691 chr1 93992835 94121132 - ABCA4 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Sep 2019]. 24 GO:0097381, GO:0043231, GO:0016020, GO:0005887, GO:0005783, photoreceptor disc membrane, intracellular membrane-bounded organelle, membrane, integral component of plasma membrane, endoplasmic reticulum, GO:0140347, GO:0140327, GO:0140326, GO:0090555, GO:0042626, GO:0016887, GO:0005548, GO:0005524, GO:0005319, GO:0005215, N-retinylidene-phosphatidylethanolamine flippase activity, flippase activity, ATPase-coupled intramembrane lipid transporter activity, phosphatidylethanolamine flippase activity, ATPase-coupled transmembrane transporter activity, ATPase activity, phospholipid transporter activity, ATP binding, lipid transporter activity, transporter activity, GO:0055085, GO:0045494, GO:0045332, GO:0007603, GO:0007601, GO:0006869, GO:0006649, GO:0001523, transmembrane transport, photoreceptor cell maintenance, phospholipid translocation, phototransduction, visible light, visual perception, lipid transport, phospholipid transfer to membrane, retinoid metabolic process, 0 0 0 2 0 0 0 0 0 ENSG00000198692 chrY 20575725 20593154 + EIF1AY protein_coding This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 9086 GO:0005515, GO:0003743, protein binding, translation initiation factor activity, GO:0006413, translational initiation, 1500 978 1181 503 583 438 531 594 442 ENSG00000198695 chrM 14149 14673 - MT-ND6 protein_coding 4541 GO:0070469, GO:0016021, GO:0005743, respirasome, integral component of membrane, mitochondrial inner membrane, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0032981, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, 817 811 1124 1495 1101 1364 1334 628 1079 ENSG00000198700 chr1 201829141 201884294 + IPO9 protein_coding 55705 GO:0016020, GO:0005829, GO:0005737, GO:0005635, membrane, cytosol, cytoplasm, nuclear envelope, GO:0061608, GO:0042393, GO:0031267, GO:0005515, nuclear import signal receptor activity, histone binding, small GTPase binding, protein binding, GO:0006606, GO:0006606, protein import into nucleus, protein import into nucleus, 76 73 92 140 114 150 134 67 55 ENSG00000198703 chr1 158491219 158492160 + OR10R3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198704 chr6 28503296 28528215 - GPX6 protein_coding The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. Expression of this gene has been observed in embryos and olfactory epithelium; however, the exact function of this gene is not known. This isozyme is a selenoprotein in humans, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The orthologs of this gene in mouse and rat (and some other species) contain a cysteine (Cys) residue in place of the Sec residue, and their corresponding mRNAs lack SECIS element. [provided by RefSeq, Jul 2017]. 257202 GO:0005576, extracellular region, GO:0004602, GO:0004601, glutathione peroxidase activity, peroxidase activity, GO:0098869, GO:0055114, GO:0006979, cellular oxidant detoxification, oxidation-reduction process, response to oxidative stress, 0 0 0 0 0 0 0 0 0 ENSG00000198707 chr12 88049014 88142216 - CEP290 protein_coding This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]. 80184 GO:0036038, GO:0035869, GO:0035580, GO:0034451, GO:0032991, GO:0032391, GO:0016020, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005737, GO:0005634, GO:0005576, GO:0000930, MKS complex, ciliary transition zone, specific granule lumen, centriolar satellite, protein-containing complex, photoreceptor connecting cilium, membrane, cytosol, cytosol, centriole, centrosome, centrosome, cytoplasm, nucleus, extracellular region, gamma-tubulin complex, GO:0051011, GO:0042802, GO:0005515, microtubule minus-end binding, identical protein binding, protein binding, GO:0097711, GO:0090316, GO:0070201, GO:0060271, GO:0060271, GO:0048793, GO:0045893, GO:0043312, GO:0042462, GO:0030916, GO:0030902, GO:0015031, GO:0010389, GO:0000086, ciliary basal body-plasma membrane docking, positive regulation of intracellular protein transport, regulation of establishment of protein localization, cilium assembly, cilium assembly, pronephros development, positive regulation of transcription, DNA-templated, neutrophil degranulation, eye photoreceptor cell development, otic vesicle formation, hindbrain development, protein transport, regulation of G2/M transition of mitotic cell cycle, G2/M transition of mitotic cell cycle, 46 23 80 122 38 83 114 22 103 ENSG00000198711 chr1 54236440 54239063 + SSBP3-AS1 antisense 619518 GO:0005576, extracellular region, 6 15 15 7 3 23 19 3 29 ENSG00000198712 chrM 7586 8269 + MT-CO2 protein_coding 4513 GO:0045277, GO:0016021, GO:0016020, GO:0005743, GO:0005743, GO:0005739, respiratory chain complex IV, integral component of membrane, membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0005507, GO:0004129, GO:0004129, GO:0004129, protein binding, copper ion binding, cytochrome-c oxidase activity, cytochrome-c oxidase activity, cytochrome-c oxidase activity, GO:2001171, GO:1902600, GO:0042773, GO:0010940, GO:0010729, GO:0009409, GO:0007595, GO:0006123, GO:0006123, GO:0006123, positive regulation of ATP biosynthetic process, proton transmembrane transport, ATP synthesis coupled electron transport, positive regulation of necrotic cell death, positive regulation of hydrogen peroxide biosynthetic process, response to cold, lactation, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, 5788 3901 6168 14625 9125 12943 12697 5564 9025 ENSG00000198715 chr1 156290089 156295689 - GLMP protein_coding 112770 GO:0016021, GO:0005829, GO:0005765, GO:0005764, GO:0005764, GO:0005634, integral component of membrane, cytosol, lysosomal membrane, lysosome, lysosome, nucleus, GO:0045944, positive regulation of transcription by RNA polymerase II, 13 26 19 62 89 84 58 55 36 ENSG00000198718 chr14 44962208 45074431 + TOGARAM1 protein_coding 23116 GO:0072686, GO:0036064, GO:0005929, GO:0005929, GO:0005881, GO:0005876, GO:0005874, GO:0005815, mitotic spindle, ciliary basal body, cilium, cilium, cytoplasmic microtubule, spindle microtubule, microtubule, microtubule organizing center, GO:0008017, microtubule binding, GO:1905515, GO:0090307, GO:0035082, GO:0031116, GO:0031110, GO:0000226, non-motile cilium assembly, mitotic spindle assembly, axoneme assembly, positive regulation of microtubule polymerization, regulation of microtubule polymerization or depolymerization, microtubule cytoskeleton organization, 61 63 61 72 47 68 47 41 59 ENSG00000198719 chr6 170282206 170306565 - DLL1 protein_coding DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]. 28514 GO:0045121, GO:0031410, GO:0016324, GO:0005912, GO:0005887, GO:0005886, GO:0005886, GO:0005576, membrane raft, cytoplasmic vesicle, apical plasma membrane, adherens junction, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0097110, GO:0030957, GO:0005515, GO:0005509, GO:0005112, GO:0005112, scaffold protein binding, Tat protein binding, protein binding, calcium ion binding, Notch binding, Notch binding, GO:2000726, GO:1903672, GO:1900746, GO:0098773, GO:0097150, GO:0097150, GO:0097102, GO:0097009, GO:0072583, GO:0072070, GO:0072014, GO:0072006, GO:0070986, GO:0060853, GO:0060042, GO:0060041, GO:0051302, GO:0050767, GO:0048839, GO:0048665, GO:0048633, GO:0048631, GO:0048630, GO:0046331, GO:0045944, GO:0045807, GO:0045747, GO:0045746, GO:0045665, GO:0045662, GO:0045638, GO:0045608, GO:0045605, GO:0045596, GO:0040008, GO:0035265, GO:0034351, GO:0032693, GO:0030857, GO:0030155, GO:0030154, GO:0030097, GO:0021693, GO:0021688, GO:0021510, GO:0014807, GO:0014002, GO:0009954, GO:0008285, GO:0008284, GO:0008217, GO:0007386, GO:0007368, GO:0007219, GO:0007219, GO:0007219, GO:0007219, GO:0003323, GO:0002315, GO:0001947, GO:0001757, GO:0001756, GO:0001709, negative regulation of cardiac muscle cell differentiation, positive regulation of sprouting angiogenesis, regulation of vascular endothelial growth factor signaling pathway, skin epidermis development, neuronal stem cell population maintenance, neuronal stem cell population maintenance, endothelial tip cell fate specification, energy homeostasis, clathrin-dependent endocytosis, loop of Henle development, proximal tubule development, nephron development, left/right axis specification, Notch signaling pathway involved in arterial endothelial cell fate commitment, retina morphogenesis in camera-type eye, retina development in camera-type eye, regulation of cell division, regulation of neurogenesis, inner ear development, neuron fate specification, positive regulation of skeletal muscle tissue growth, regulation of skeletal muscle tissue growth, skeletal muscle tissue growth, lateral inhibition, positive regulation of transcription by RNA polymerase II, positive regulation of endocytosis, positive regulation of Notch signaling pathway, negative regulation of Notch signaling pathway, negative regulation of neuron differentiation, negative regulation of myoblast differentiation, negative regulation of myeloid cell differentiation, negative regulation of inner ear auditory receptor cell differentiation, negative regulation of epidermal cell differentiation, negative regulation of cell differentiation, regulation of growth, organ growth, negative regulation of glial cell apoptotic process, negative regulation of interleukin-10 production, negative regulation of epithelial cell differentiation, regulation of cell adhesion, cell differentiation, hemopoiesis, cerebellar Purkinje cell layer structural organization, cerebellar molecular layer formation, spinal cord development, regulation of somitogenesis, astrocyte development, proximal/distal pattern formation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, regulation of blood pressure, compartment pattern specification, determination of left/right symmetry, Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, Notch signaling pathway, type B pancreatic cell development, marginal zone B cell differentiation, heart looping, somite specification, somitogenesis, cell fate determination, 0 0 0 0 0 0 0 0 0 ENSG00000198720 chr17 29589769 29614761 + ANKRD13B protein_coding 124930 GO:0048471, GO:0043231, GO:0005886, GO:0005770, GO:0005769, GO:0005737, GO:0005737, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, plasma membrane, late endosome, early endosome, cytoplasm, cytoplasm, GO:0140036, GO:0140036, ubiquitin-dependent protein binding, ubiquitin-dependent protein binding, GO:0002091, negative regulation of receptor internalization, 1 0 1 2 1 3 0 1 2 ENSG00000198721 chr6 4115689 4135597 - ECI2 protein_coding This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]. 10455 GO:0043231, GO:0016020, GO:0005829, GO:0005782, GO:0005777, GO:0005739, intracellular membrane-bounded organelle, membrane, cytosol, peroxisomal matrix, peroxisome, mitochondrion, GO:0005515, GO:0004165, GO:0000062, protein binding, dodecenoyl-CoA delta-isomerase activity, fatty-acyl-CoA binding, GO:0033540, GO:0006635, GO:0006625, fatty acid beta-oxidation using acyl-CoA oxidase, fatty acid beta-oxidation, protein targeting to peroxisome, 12 2 31 34 15 55 33 13 23 ENSG00000198722 chr9 35161992 35405338 + UNC13B protein_coding This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]. 10497 GO:0098831, GO:0048786, GO:0043195, GO:0043195, GO:0042734, GO:0031594, GO:0030672, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005794, presynaptic active zone cytoplasmic component, presynaptic active zone, terminal bouton, terminal bouton, presynaptic membrane, neuromuscular junction, synaptic vesicle membrane, membrane, plasma membrane, plasma membrane, cytosol, cytosol, Golgi apparatus, GO:0031267, GO:0030742, GO:0019992, GO:0017075, GO:0005543, GO:0005516, GO:0005516, GO:0005515, GO:0005509, small GTPase binding, GTP-dependent protein binding, diacylglycerol binding, syntaxin-1 binding, phospholipid binding, calmodulin binding, calmodulin binding, protein binding, calcium ion binding, GO:0099525, GO:0099011, GO:0097151, GO:0071333, GO:0061789, GO:0060478, GO:0050714, GO:0043065, GO:0035556, GO:0035249, GO:0016188, GO:0016082, GO:0016082, GO:0016081, GO:0014047, GO:0010808, GO:0007528, GO:0007269, GO:0007268, presynaptic dense core vesicle exocytosis, neuronal dense core vesicle exocytosis, positive regulation of inhibitory postsynaptic potential, cellular response to glucose stimulus, dense core granule priming, acrosomal vesicle exocytosis, positive regulation of protein secretion, positive regulation of apoptotic process, intracellular signal transduction, synaptic transmission, glutamatergic, synaptic vesicle maturation, synaptic vesicle priming, synaptic vesicle priming, synaptic vesicle docking, glutamate secretion, positive regulation of synaptic vesicle priming, neuromuscular junction development, neurotransmitter secretion, chemical synaptic transmission, 7 1 6 5 1 12 18 3 4 ENSG00000198723 chr19 7492976 7508450 + TEX45 protein_coding 374877 GO:0005515, protein binding, 6 14 12 21 14 7 6 7 7 ENSG00000198727 chrM 14747 15887 + MT-CYB protein_coding 4519 GO:0031305, GO:0031224, GO:0005750, GO:0005750, GO:0005743, GO:0005739, integral component of mitochondrial inner membrane, intrinsic component of membrane, mitochondrial respiratory chain complex III, mitochondrial respiratory chain complex III, mitochondrial inner membrane, mitochondrion, GO:0046872, GO:0044877, GO:0008121, metal ion binding, protein-containing complex binding, ubiquinol-cytochrome-c reductase activity, GO:0055093, GO:0051592, GO:0046689, GO:0046688, GO:0046686, GO:0045471, GO:0042538, GO:0042493, GO:0033762, GO:0033590, GO:0031100, GO:0015990, GO:0009636, GO:0009408, GO:0006122, GO:0006122, GO:0006122, GO:0001666, response to hyperoxia, response to calcium ion, response to mercury ion, response to copper ion, response to cadmium ion, response to ethanol, hyperosmotic salinity response, response to drug, response to glucagon, response to cobalamin, animal organ regeneration, electron transport coupled proton transport, response to toxic substance, response to heat, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, response to hypoxia, 4828 3543 4687 12557 8210 9222 9497 4859 6318 ENSG00000198728 chr10 102107560 102120453 - LDB1 protein_coding 8861 GO:1990907, GO:0032991, GO:0031252, GO:0005667, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, beta-catenin-TCF complex, protein-containing complex, cell leading edge, transcription regulator complex, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:0140297, GO:0042803, GO:0030274, GO:0030274, GO:0030274, GO:0019899, GO:0005515, GO:0003712, GO:0001102, GO:0001102, DNA-binding transcription factor binding, protein homodimerization activity, LIM domain binding, LIM domain binding, LIM domain binding, enzyme binding, protein binding, transcription coregulator activity, RNA polymerase II activating transcription factor binding, RNA polymerase II activating transcription factor binding, GO:1902036, GO:0051893, GO:0046985, GO:0045944, GO:0045944, GO:0045944, GO:0045892, GO:0045647, GO:0043973, GO:0043549, GO:0034243, GO:0030334, GO:0030182, GO:0007399, GO:0007275, GO:0006355, GO:0000972, GO:0000122, regulation of hematopoietic stem cell differentiation, regulation of focal adhesion assembly, positive regulation of hemoglobin biosynthetic process, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of erythrocyte differentiation, histone H3-K4 acetylation, regulation of kinase activity, regulation of transcription elongation from RNA polymerase II promoter, regulation of cell migration, neuron differentiation, nervous system development, multicellular organism development, regulation of transcription, DNA-templated, transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery, negative regulation of transcription by RNA polymerase II, 850 1049 1063 754 921 833 781 813 804 ENSG00000198729 chr6 150143076 150250357 + PPP1R14C protein_coding The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]. 81706 GO:0016020, GO:0005737, membrane, cytoplasm, GO:0004865, protein serine/threonine phosphatase inhibitor activity, GO:0042325, GO:0032515, regulation of phosphorylation, negative regulation of phosphoprotein phosphatase activity, 0 0 0 0 0 0 1 2 2 ENSG00000198730 chr11 10750987 10801625 + CTR9 protein_coding The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016]. 9646 GO:0035327, GO:0016607, GO:0016593, GO:0016593, GO:0005654, GO:0005654, transcriptionally active chromatin, nuclear speck, Cdc73/Paf1 complex, Cdc73/Paf1 complex, nucleoplasm, nucleoplasm, GO:0042169, GO:0005515, GO:0000993, SH2 domain binding, protein binding, RNA polymerase II complex binding, GO:2001168, GO:2001162, GO:2000653, GO:1900364, GO:0080182, GO:0071222, GO:0070102, GO:0051571, GO:0051569, GO:0045638, GO:0033523, GO:0019827, GO:0016567, GO:0016055, GO:0010390, GO:0007259, GO:0006368, GO:0006368, GO:0006366, GO:0006355, GO:0001835, GO:0001832, GO:0001829, GO:0001826, GO:0001711, GO:0000122, positive regulation of histone H2B ubiquitination, positive regulation of histone H3-K79 methylation, regulation of genetic imprinting, negative regulation of mRNA polyadenylation, histone H3-K4 trimethylation, cellular response to lipopolysaccharide, interleukin-6-mediated signaling pathway, positive regulation of histone H3-K4 methylation, regulation of histone H3-K4 methylation, negative regulation of myeloid cell differentiation, histone H2B ubiquitination, stem cell population maintenance, protein ubiquitination, Wnt signaling pathway, histone monoubiquitination, receptor signaling pathway via JAK-STAT, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription, DNA-templated, blastocyst hatching, blastocyst growth, trophectodermal cell differentiation, inner cell mass cell differentiation, endodermal cell fate commitment, negative regulation of transcription by RNA polymerase II, 474 380 413 213 261 275 238 227 203 ENSG00000198732 chr14 69854131 70032366 + SMOC1 protein_coding This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 64093 GO:0005615, GO:0005604, extracellular space, basement membrane, GO:0050840, GO:0008201, GO:0005515, GO:0005509, extracellular matrix binding, heparin binding, protein binding, calcium ion binding, GO:0060173, GO:0045667, GO:0030198, GO:0030154, GO:0001654, limb development, regulation of osteoblast differentiation, extracellular matrix organization, cell differentiation, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000198734 chr1 169514166 169586588 - F5 protein_coding This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]. 2153 GO:1903561, GO:0033116, GO:0031093, GO:0031091, GO:0030134, GO:0016020, GO:0005886, GO:0005788, GO:0005615, GO:0005576, GO:0005576, GO:0000139, extracellular vesicle, endoplasmic reticulum-Golgi intermediate compartment membrane, platelet alpha granule lumen, platelet alpha granule, COPII-coated ER to Golgi transport vesicle, membrane, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular region, extracellular region, Golgi membrane, GO:0005515, GO:0005507, protein binding, copper ion binding, GO:0048208, GO:0044267, GO:0043687, GO:0008015, GO:0007596, GO:0007596, GO:0006888, GO:0002576, COPII vesicle coating, cellular protein metabolic process, post-translational protein modification, blood circulation, blood coagulation, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, platelet degranulation, 702 554 989 239 256 297 346 208 283 ENSG00000198736 chr16 1938210 1943326 - MSRB1 protein_coding The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19. [provided by RefSeq, Aug 2017]. 51734 GO:0015629, GO:0005829, GO:0005634, GO:0005575, actin cytoskeleton, cytosol, nucleus, cellular_component, GO:0070191, GO:0033745, GO:0033743, GO:0008270, GO:0005515, GO:0003779, methionine-R-sulfoxide reductase activity, L-methionine-(R)-S-oxide reductase activity, peptide-methionine (R)-S-oxide reductase activity, zinc ion binding, protein binding, actin binding, GO:0055114, GO:0045087, GO:0030091, GO:0030091, GO:0030041, oxidation-reduction process, innate immune response, protein repair, protein repair, actin filament polymerization, 4781 3189 4716 985 2389 1408 1559 2375 1566 ENSG00000198738 chr6 85735744 85735921 - SMIM11P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198739 chr10 66926006 67099830 + LRRTM3 protein_coding 347731 GO:0098978, GO:0098978, GO:0045211, GO:0031012, GO:0016021, GO:0005615, glutamatergic synapse, glutamatergic synapse, postsynaptic membrane, extracellular matrix, integral component of membrane, extracellular space, GO:1902004, GO:0099054, GO:0099054, GO:0051965, positive regulation of amyloid-beta formation, presynapse assembly, presynapse assembly, positive regulation of synapse assembly, 0 0 0 0 0 0 0 0 0 ENSG00000198740 chr17 49289206 49362473 - ZNF652 protein_coding 22834 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1413 1230 1114 774 1230 992 1080 918 823 ENSG00000198742 chr7 99027438 99144100 - SMURF1 protein_coding This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]. 57154 GO:0070062, GO:0005886, GO:0005829, GO:0005739, GO:0005737, GO:0005737, GO:0005654, extracellular exosome, plasma membrane, cytosol, mitochondrion, cytoplasm, cytoplasm, nucleoplasm, GO:0070412, GO:0070411, GO:0061630, GO:0061630, GO:0061630, GO:0048185, GO:0005543, GO:0005515, GO:0004842, R-SMAD binding, I-SMAD binding, ubiquitin protein ligase activity, ubiquitin protein ligase activity, ubiquitin protein ligase activity, activin binding, phospholipid binding, protein binding, ubiquitin-protein transferase activity, GO:2000060, GO:1903861, GO:0072659, GO:0071211, GO:0061753, GO:0061736, GO:0061734, GO:0060071, GO:0045732, GO:0043161, GO:0043161, GO:0034394, GO:0032801, GO:0030579, GO:0030579, GO:0030514, GO:0030514, GO:0030514, GO:0030512, GO:0030509, GO:0030509, GO:0030279, GO:0030154, GO:0016567, GO:0016567, GO:0007398, GO:0007179, GO:0006611, GO:0006511, GO:0000209, GO:0000209, positive regulation of ubiquitin-dependent protein catabolic process, positive regulation of dendrite extension, protein localization to plasma membrane, protein targeting to vacuole involved in autophagy, substrate localization to autophagosome, engulfment of target by autophagosome, parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization, Wnt signaling pathway, planar cell polarity pathway, positive regulation of protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, protein localization to cell surface, receptor catabolic process, ubiquitin-dependent SMAD protein catabolic process, ubiquitin-dependent SMAD protein catabolic process, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, BMP signaling pathway, negative regulation of ossification, cell differentiation, protein ubiquitination, protein ubiquitination, ectoderm development, transforming growth factor beta receptor signaling pathway, protein export from nucleus, ubiquitin-dependent protein catabolic process, protein polyubiquitination, protein polyubiquitination, 741 821 1376 631 1008 1004 632 613 729 ENSG00000198743 chr21 34073570 34106262 + SLC5A3 protein_coding 6526 GO:0048471, GO:0016021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005886, perinuclear region of cytoplasm, integral component of membrane, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, GO:0044325, GO:0015459, GO:0015166, GO:0015150, GO:0015146, GO:0005412, GO:0005412, GO:0005367, GO:0005367, GO:0005365, ion channel binding, potassium channel regulator activity, polyol transmembrane transporter activity, fucose transmembrane transporter activity, pentose transmembrane transporter activity, glucose:sodium symporter activity, glucose:sodium symporter activity, myo-inositol:sodium symporter activity, myo-inositol:sodium symporter activity, myo-inositol transmembrane transporter activity, GO:1905477, GO:1904679, GO:1904659, GO:1903428, GO:0150104, GO:0043576, GO:0043085, GO:0015798, GO:0015798, GO:0015798, GO:0015791, GO:0015756, GO:0015750, GO:0007422, GO:0006814, GO:0006020, positive regulation of protein localization to membrane, myo-inositol import across plasma membrane, glucose transmembrane transport, positive regulation of reactive oxygen species biosynthetic process, transport across blood-brain barrier, regulation of respiratory gaseous exchange, positive regulation of catalytic activity, myo-inositol transport, myo-inositol transport, myo-inositol transport, polyol transport, fucose transmembrane transport, pentose transmembrane transport, peripheral nervous system development, sodium ion transport, inositol metabolic process, 278 292 513 153 241 222 191 204 231 ENSG00000198744 chr1 634376 634922 + MTCO3P12 unprocessed_pseudogene 0 2 0 0 1 1 1 0 1 ENSG00000198746 chr1 26890488 26900466 - GPATCH3 protein_coding 63906 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003676, protein binding, nucleic acid binding, GO:0045893, GO:0045893, GO:0039536, GO:0039536, GO:0032480, GO:0032480, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of RIG-I signaling pathway, negative regulation of RIG-I signaling pathway, negative regulation of type I interferon production, negative regulation of type I interferon production, 107 95 112 150 117 97 95 88 60 ENSG00000198752 chr14 102932379 103057462 - CDC42BPB protein_coding This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]. 9578 GO:0070062, GO:0042641, GO:0042641, GO:0031252, GO:0030027, GO:0005911, GO:0005886, GO:0005856, GO:0005737, extracellular exosome, actomyosin, actomyosin, cell leading edge, lamellipodium, cell-cell junction, plasma membrane, cytoskeleton, cytoplasm, GO:0106311, GO:0106310, GO:0044877, GO:0031267, GO:0005524, GO:0004674, GO:0004674, GO:0004672, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein-containing complex binding, small GTPase binding, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, magnesium ion binding, GO:0035556, GO:0031532, GO:0031032, GO:0031032, GO:0018107, GO:0016477, GO:0007165, GO:0007163, GO:0007010, GO:0006468, GO:0006468, intracellular signal transduction, actin cytoskeleton reorganization, actomyosin structure organization, actomyosin structure organization, peptidyl-threonine phosphorylation, cell migration, signal transduction, establishment or maintenance of cell polarity, cytoskeleton organization, protein phosphorylation, protein phosphorylation, 15 15 19 26 14 39 35 9 17 ENSG00000198753 chrX 153764196 153779346 + PLXNB3 protein_coding The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 5365 GO:0009986, GO:0005887, GO:0005886, GO:0002116, cell surface, integral component of plasma membrane, plasma membrane, semaphorin receptor complex, GO:0098632, GO:0051022, GO:0019904, GO:0017154, GO:0017154, GO:0005515, cell-cell adhesion mediator activity, Rho GDP-dissociation inhibitor binding, protein domain specific binding, semaphorin receptor activity, semaphorin receptor activity, protein binding, GO:1902287, GO:0071526, GO:0060326, GO:0050918, GO:0050772, GO:0043087, GO:0034260, GO:0030336, GO:0030336, GO:0030334, GO:0010976, GO:0010593, GO:0008360, GO:0007162, GO:0007162, GO:0007156, GO:0001938, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway, cell chemotaxis, positive chemotaxis, positive regulation of axonogenesis, regulation of GTPase activity, negative regulation of GTPase activity, negative regulation of cell migration, negative regulation of cell migration, regulation of cell migration, positive regulation of neuron projection development, negative regulation of lamellipodium assembly, regulation of cell shape, negative regulation of cell adhesion, negative regulation of cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, positive regulation of endothelial cell proliferation, 0 0 1 0 0 0 4 0 1 ENSG00000198754 chr1 39769523 39771348 - OXCT2 protein_coding The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitochondrion. This gene is intronless, and a pseudogene of this gene is located elsewhere on chromosome 1. [provided by RefSeq, Aug 2016]. 64064 GO:0031514, GO:0005759, GO:0005739, GO:0005739, motile cilium, mitochondrial matrix, mitochondrion, mitochondrion, GO:0008410, GO:0008260, CoA-transferase activity, 3-oxoacid CoA-transferase activity, GO:0046952, GO:0046950, ketone body catabolic process, cellular ketone body metabolic process, 0 0 0 0 0 0 0 0 2 ENSG00000198755 chr6 35468408 35470785 + RPL10A protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 4736 GO:0070062, GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0016020, GO:0005925, GO:0005829, GO:0005634, extracellular exosome, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, membrane, focal adhesion, cytosol, nucleus, GO:0005515, GO:0003735, GO:0003723, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000470, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, maturation of LSU-rRNA, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 460 219 812 1781 660 1901 1300 573 1271 ENSG00000198756 chr1 183929854 184037729 - COLGALT2 protein_coding 23127 GO:0005788, endoplasmic reticulum lumen, GO:0050211, GO:0050211, GO:0005515, procollagen galactosyltransferase activity, procollagen galactosyltransferase activity, protein binding, 2 3 17 10 17 28 9 13 14 ENSG00000198758 chr1 109750080 109764027 - EPS8L3 protein_coding This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]. 79574 GO:0032587, GO:0005886, GO:0005737, ruffle membrane, plasma membrane, cytoplasm, GO:0051015, GO:0005515, GO:0005085, GO:0003779, actin filament binding, protein binding, guanyl-nucleotide exchange factor activity, actin binding, GO:1900029, GO:0042634, GO:0035023, GO:0007266, positive regulation of ruffle assembly, regulation of hair cycle, regulation of Rho protein signal transduction, Rho protein signal transduction, 0 0 0 1 0 0 0 0 0 ENSG00000198759 chrX 13569605 13633575 + EGFL6 protein_coding This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008]. 25975 GO:0016020, GO:0005615, GO:0005604, membrane, extracellular space, basement membrane, GO:0005515, GO:0005509, GO:0005178, protein binding, calcium ion binding, integrin binding, GO:0030198, GO:0030154, GO:0010811, GO:0007275, GO:0007155, extracellular matrix organization, cell differentiation, positive regulation of cell-substrate adhesion, multicellular organism development, cell adhesion, 0 0 0 0 5 0 0 0 0 ENSG00000198763 chrM 4470 5511 + MT-ND2 protein_coding 4536 GO:0016021, GO:0014069, GO:0005747, GO:0005747, GO:0005743, integral component of membrane, postsynaptic density, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0035255, GO:0019901, GO:0008137, ionotropic glutamate receptor binding, protein kinase binding, NADH dehydrogenase (ubiquinone) activity, GO:0072593, GO:0032981, GO:0006120, GO:0006120, reactive oxygen species metabolic process, mitochondrial respiratory chain complex I assembly, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 5908 4298 4683 15105 9411 10143 12902 5345 7226 ENSG00000198765 chr1 114854803 114995370 + SYCP1 protein_coding 6847 GO:0001673, GO:0000802, GO:0000801, GO:0000795, GO:0000775, male germ cell nucleus, transverse filament, central element, synaptonemal complex, chromosome, centromeric region, GO:0003690, GO:0003690, GO:0003677, double-stranded DNA binding, double-stranded DNA binding, DNA binding, GO:0051878, GO:0051301, GO:0051289, GO:0051026, GO:0035092, GO:0032880, GO:0007283, GO:0007131, GO:0007130, GO:0007129, GO:0000711, lateral element assembly, cell division, protein homotetramerization, chiasma assembly, sperm chromatin condensation, regulation of protein localization, spermatogenesis, reciprocal meiotic recombination, synaptonemal complex assembly, homologous chromosome pairing at meiosis, meiotic DNA repair synthesis, 0 0 0 0 0 0 0 0 0 ENSG00000198768 chr20 58459101 58515131 - APCDD1L protein_coding 164284 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0017147, GO:0005515, Wnt-protein binding, protein binding, GO:0030178, negative regulation of Wnt signaling pathway, 0 1 0 0 0 0 0 0 4 ENSG00000198771 chr1 167630093 167706249 + RCSD1 protein_coding 92241 GO:0005884, actin filament, GO:0051015, actin filament binding, GO:0071474, GO:0003009, cellular hyperosmotic response, skeletal muscle contraction, 1612 1635 1779 967 1442 1443 1217 1362 1288 ENSG00000198774 chr12 85800697 85836570 - RASSF9 protein_coding The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]. 9182 GO:0070062, GO:0055037, GO:0012510, GO:0012510, GO:0005829, GO:0005829, GO:0005768, extracellular exosome, recycling endosome, trans-Golgi network transport vesicle membrane, trans-Golgi network transport vesicle membrane, cytosol, cytosol, endosome, GO:0005515, protein binding, GO:0046907, GO:0016197, GO:0007165, GO:0006605, intracellular transport, endosomal transport, signal transduction, protein targeting, 0 0 0 0 0 0 0 0 0 ENSG00000198780 chr5 74777574 74866951 - FAM169A protein_coding 26049 GO:0005637, nuclear inner membrane, GO:0005515, protein binding, 32 14 50 71 13 49 37 16 57 ENSG00000198783 chr17 34961530 34963775 + ZNF830 protein_coding 91603 GO:0016607, GO:0005694, GO:0005681, GO:0005654, GO:0005634, nuclear speck, chromosome, spliceosomal complex, nucleoplasm, nucleus, GO:0008270, GO:0005515, GO:0003676, zinc ion binding, protein binding, nucleic acid binding, GO:0060729, GO:0051301, GO:0051276, GO:0048478, GO:0048478, GO:0044773, GO:0043066, GO:0033314, GO:0033314, GO:0033260, GO:0008380, GO:0006397, GO:0006283, GO:0001832, GO:0001546, GO:0001541, intestinal epithelial structure maintenance, cell division, chromosome organization, replication fork protection, replication fork protection, mitotic DNA damage checkpoint, negative regulation of apoptotic process, mitotic DNA replication checkpoint, mitotic DNA replication checkpoint, nuclear DNA replication, RNA splicing, mRNA processing, transcription-coupled nucleotide-excision repair, blastocyst growth, preantral ovarian follicle growth, ovarian follicle development, 252 238 346 219 258 289 201 185 181 ENSG00000198785 chr9 101569353 101738580 - GRIN3A protein_coding This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008]. 116443 GO:0098978, GO:0045211, GO:0045202, GO:0043025, GO:0043005, GO:0017146, GO:0016021, GO:0016020, GO:0014069, GO:0005886, glutamatergic synapse, postsynaptic membrane, synapse, neuronal cell body, neuron projection, NMDA selective glutamate receptor complex, integral component of membrane, membrane, postsynaptic density, plasma membrane, GO:1904315, GO:0051721, GO:0042802, GO:0038023, GO:0016594, GO:0015276, GO:0005515, GO:0005262, GO:0004972, GO:0004972, transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential, protein phosphatase 2A binding, identical protein binding, signaling receptor activity, glycine binding, ligand-gated ion channel activity, protein binding, calcium channel activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, GO:2000300, GO:0070588, GO:0060134, GO:0060078, GO:0045471, GO:0035235, GO:0016358, GO:0006816, regulation of synaptic vesicle exocytosis, calcium ion transmembrane transport, prepulse inhibition, regulation of postsynaptic membrane potential, response to ethanol, ionotropic glutamate receptor signaling pathway, dendrite development, calcium ion transport, 6 12 17 12 11 9 14 16 1 ENSG00000198786 chrM 12337 14148 + MT-ND5 protein_coding 4540 GO:0043005, GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, neuron projection, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, GO:0003954, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase activity, GO:0042542, GO:0032981, GO:0015990, GO:0010243, GO:0006120, GO:0006120, GO:0001666, response to hydrogen peroxide, mitochondrial respiratory chain complex I assembly, electron transport coupled proton transport, response to organonitrogen compound, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, response to hypoxia, 3008 2402 3629 6159 3703 4655 5032 2030 3316 ENSG00000198787 chr4 4126659 4127569 - OR4D12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198788 chr11 1074875 1110511 + MUC2 protein_coding This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]. 4583 GO:0070703, GO:0070702, GO:0062023, GO:0031012, GO:0005886, GO:0005796, GO:0005615, outer mucus layer, inner mucus layer, collagen-containing extracellular matrix, extracellular matrix, plasma membrane, Golgi lumen, extracellular space, GO:0005515, protein binding, GO:0030277, GO:0016266, GO:0002223, maintenance of gastrointestinal epithelium, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 1 0 0 0 0 0 ENSG00000198791 chr8 17224964 17246878 - CNOT7 protein_coding The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Apr 2016]. 29883 GO:0030015, GO:0030014, GO:0030014, GO:0016607, GO:0016604, GO:0016020, GO:0005829, GO:0005737, GO:0005634, GO:0000932, GO:0000932, CCR4-NOT core complex, CCR4-NOT complex, CCR4-NOT complex, nuclear speck, nuclear body, membrane, cytosol, cytoplasm, nucleus, P-body, P-body, GO:0046872, GO:0008134, GO:0005515, GO:0004535, GO:0004535, GO:0004532, GO:0003723, GO:0003714, GO:0000175, metal ion binding, transcription factor binding, protein binding, poly(A)-specific ribonuclease activity, poly(A)-specific ribonuclease activity, exoribonuclease activity, RNA binding, transcription corepressor activity, 3'-5'-exoribonuclease activity, GO:1900153, GO:0090503, GO:0061014, GO:0060339, GO:0060213, GO:0051607, GO:0045944, GO:0045892, GO:0045070, GO:0043928, GO:0043928, GO:0042509, GO:0035195, GO:0033962, GO:0031047, GO:0017148, GO:0010629, GO:0008285, GO:0008284, GO:0006977, GO:0000290, GO:0000289, positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay, RNA phosphodiester bond hydrolysis, exonucleolytic, positive regulation of mRNA catabolic process, negative regulation of type I interferon-mediated signaling pathway, positive regulation of nuclear-transcribed mRNA poly(A) tail shortening, defense response to virus, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of viral genome replication, exonucleolytic catabolism of deadenylated mRNA, exonucleolytic catabolism of deadenylated mRNA, regulation of tyrosine phosphorylation of STAT protein, gene silencing by miRNA, P-body assembly, gene silencing by RNA, negative regulation of translation, negative regulation of gene expression, negative regulation of cell population proliferation, positive regulation of cell population proliferation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, deadenylation-dependent decapping of nuclear-transcribed mRNA, nuclear-transcribed mRNA poly(A) tail shortening, 526 502 593 299 357 387 239 334 286 ENSG00000198792 chr22 38219291 38273034 - TMEM184B protein_coding 25829 GO:0016021, integral component of membrane, GO:0005215, transporter activity, GO:0006810, transport, 1157 1369 1469 741 1216 1000 799 936 823 ENSG00000198793 chr1 11106535 11262507 - MTOR protein_coding The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]. 2475 GO:0099524, GO:0098978, GO:0045335, GO:0043025, GO:0031932, GO:0031932, GO:0031931, GO:0031931, GO:0031931, GO:0030425, GO:0016605, GO:0016020, GO:0016020, GO:0012505, GO:0005829, GO:0005789, GO:0005765, GO:0005765, GO:0005764, GO:0005764, GO:0005741, GO:0005737, GO:0005654, GO:0005635, GO:0005634, GO:0000139, postsynaptic cytosol, glutamatergic synapse, phagocytic vesicle, neuronal cell body, TORC2 complex, TORC2 complex, TORC1 complex, TORC1 complex, TORC1 complex, dendrite, PML body, membrane, membrane, endomembrane system, cytosol, endoplasmic reticulum membrane, lysosomal membrane, lysosomal membrane, lysosome, lysosome, mitochondrial outer membrane, cytoplasm, nucleoplasm, nuclear envelope, nucleus, Golgi membrane, GO:0106311, GO:0106310, GO:0051219, GO:0043022, GO:0042802, GO:0019904, GO:0019901, GO:0016301, GO:0016301, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0001156, GO:0001006, GO:0001003, GO:0001002, protein threonine kinase activity, protein serine kinase activity, phosphoprotein binding, ribosome binding, identical protein binding, protein domain specific binding, protein kinase binding, kinase activity, kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, TFIIIC-class transcription factor complex binding, RNA polymerase III type 3 promoter sequence-specific DNA binding, RNA polymerase III type 2 promoter sequence-specific DNA binding, RNA polymerase III type 1 promoter sequence-specific DNA binding, GO:1990253, GO:1904690, GO:1904213, GO:1904206, GO:1904197, GO:1904193, GO:1904059, GO:1904058, GO:1904056, GO:1904000, GO:1903691, GO:1901838, GO:1901216, GO:1900034, GO:0090559, GO:0090335, GO:0071456, GO:0071233, GO:0071230, GO:0070885, GO:0061051, GO:0060999, GO:0060252, GO:0060135, GO:0060048, GO:0055013, GO:0051897, GO:0051647, GO:0051549, GO:0051496, GO:0050882, GO:0050731, GO:0048714, GO:0048661, GO:0048511, GO:0048255, GO:0046889, GO:0046777, GO:0045945, GO:0045792, GO:0045727, GO:0045670, GO:0045429, GO:0043610, GO:0043278, GO:0043276, GO:0043200, GO:0043087, GO:0042752, GO:0042220, GO:0042060, GO:0038202, GO:0038202, GO:0038202, GO:0035264, GO:0035176, GO:0034198, GO:0032956, GO:0032868, GO:0032516, GO:0032148, GO:0032095, GO:0031998, GO:0031929, GO:0031929, GO:0031669, GO:0031667, GO:0031641, GO:0031529, GO:0031397, GO:0030838, GO:0030163, GO:0021510, GO:0018107, GO:0018105, GO:0018105, GO:0018105, GO:0016310, GO:0016242, GO:0016242, GO:0016241, GO:0014823, GO:0014736, GO:0014042, GO:0010831, GO:0010718, GO:0010628, GO:0010592, GO:0010507, GO:0010507, GO:0010507, GO:0009791, GO:0009267, GO:0008542, GO:0008361, GO:0007616, GO:0007584, GO:0007569, GO:0007420, GO:0007281, GO:0007050, GO:0007040, GO:0006468, GO:0006468, GO:0006207, GO:0006112, GO:0005979, GO:0003179, GO:0003007, GO:0001938, GO:0001933, GO:0001558, cellular response to leucine starvation, positive regulation of cytoplasmic translational initiation, negative regulation of iodide transmembrane transport, positive regulation of skeletal muscle hypertrophy, positive regulation of granulosa cell proliferation, negative regulation of cholangiocyte apoptotic process, regulation of locomotor rhythm, positive regulation of sensory perception of pain, positive regulation of cholangiocyte proliferation, positive regulation of eating behavior, positive regulation of wound healing, spreading of epidermal cells, positive regulation of transcription of nucleolar large rRNA by RNA polymerase I, positive regulation of neuron death, regulation of cellular response to heat, regulation of membrane permeability, regulation of brown fat cell differentiation, cellular response to hypoxia, cellular response to leucine, cellular response to amino acid stimulus, negative regulation of calcineurin-NFAT signaling cascade, positive regulation of cell growth involved in cardiac muscle cell development, positive regulation of dendritic spine development, positive regulation of glial cell proliferation, maternal process involved in female pregnancy, cardiac muscle contraction, cardiac muscle cell development, positive regulation of protein kinase B signaling, nucleus localization, positive regulation of keratinocyte migration, positive regulation of stress fiber assembly, voluntary musculoskeletal movement, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of oligodendrocyte differentiation, positive regulation of smooth muscle cell proliferation, rhythmic process, mRNA stabilization, positive regulation of lipid biosynthetic process, protein autophosphorylation, positive regulation of transcription by RNA polymerase III, negative regulation of cell size, positive regulation of translation, regulation of osteoclast differentiation, positive regulation of nitric oxide biosynthetic process, regulation of carbohydrate utilization, response to morphine, anoikis, response to amino acid, regulation of GTPase activity, regulation of circadian rhythm, response to cocaine, wound healing, TORC1 signaling, TORC1 signaling, TORC1 signaling, multicellular organism growth, social behavior, cellular response to amino acid starvation, regulation of actin cytoskeleton organization, response to insulin, positive regulation of phosphoprotein phosphatase activity, activation of protein kinase B activity, regulation of response to food, regulation of fatty acid beta-oxidation, TOR signaling, TOR signaling, cellular response to nutrient levels, response to nutrient levels, regulation of myelination, ruffle organization, negative regulation of protein ubiquitination, positive regulation of actin filament polymerization, protein catabolic process, spinal cord development, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, phosphorylation, negative regulation of macroautophagy, negative regulation of macroautophagy, regulation of macroautophagy, response to activity, negative regulation of muscle atrophy, positive regulation of neuron maturation, positive regulation of myotube differentiation, positive regulation of epithelial to mesenchymal transition, positive regulation of gene expression, positive regulation of lamellipodium assembly, negative regulation of autophagy, negative regulation of autophagy, negative regulation of autophagy, post-embryonic development, cellular response to starvation, visual learning, regulation of cell size, long-term memory, response to nutrient, cell aging, brain development, germ cell development, cell cycle arrest, lysosome organization, protein phosphorylation, protein phosphorylation, 'de novo' pyrimidine nucleobase biosynthetic process, energy reserve metabolic process, regulation of glycogen biosynthetic process, heart valve morphogenesis, heart morphogenesis, positive regulation of endothelial cell proliferation, negative regulation of protein phosphorylation, regulation of cell growth, 366 446 442 301 366 382 321 299 260 ENSG00000198794 chr15 74957219 75021496 + SCAMP5 protein_coding 192683 GO:0055038, GO:0055038, GO:0032588, GO:0032588, GO:0030672, GO:0016021, GO:0005886, GO:0000139, recycling endosome membrane, recycling endosome membrane, trans-Golgi network membrane, trans-Golgi network membrane, synaptic vesicle membrane, integral component of membrane, plasma membrane, Golgi membrane, GO:0044877, GO:0005515, protein-containing complex binding, protein binding, GO:0045956, GO:0045806, GO:0034976, GO:0015031, GO:0006887, GO:0001819, positive regulation of calcium ion-dependent exocytosis, negative regulation of endocytosis, response to endoplasmic reticulum stress, protein transport, exocytosis, positive regulation of cytokine production, 1 1 5 0 1 1 5 4 6 ENSG00000198795 chr18 25061926 25352190 - ZNF521 protein_coding 25925 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0019904, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein domain specific binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048663, GO:0045944, GO:0006357, neuron fate commitment, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 1 0 0 3 1 0 0 0 0 ENSG00000198796 chr18 58481247 58628957 - ALPK2 protein_coding 115701 GO:0016323, basolateral plasma membrane, GO:0106311, GO:0106310, GO:0005524, protein threonine kinase activity, protein serine kinase activity, ATP binding, GO:1905223, GO:0055013, GO:0042981, GO:0030010, GO:0010468, GO:0006468, GO:0003308, GO:0003007, epicardium morphogenesis, cardiac muscle cell development, regulation of apoptotic process, establishment of cell polarity, regulation of gene expression, protein phosphorylation, negative regulation of Wnt signaling pathway involved in heart development, heart morphogenesis, 2 3 1 1 1 2 4 7 27 ENSG00000198797 chr1 177171497 177282422 + BRINP2 protein_coding 57795 GO:0043025, GO:0030425, GO:0005783, GO:0005576, neuronal cell body, dendrite, endoplasmic reticulum, extracellular region, GO:0071300, GO:0045930, GO:0045666, GO:0007050, cellular response to retinoic acid, negative regulation of mitotic cell cycle, positive regulation of neuron differentiation, cell cycle arrest, 0 0 0 0 0 0 0 0 0 ENSG00000198798 chrX 30230436 30237492 + MAGEB3 protein_coding This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008]. 4114 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000198799 chr1 113073209 113132260 + LRIG2 protein_coding This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 9860 GO:0097708, GO:0043025, GO:0031012, GO:0030426, GO:0016021, GO:0005886, GO:0005737, GO:0005615, intracellular vesicle, neuronal cell body, extracellular matrix, growth cone, integral component of membrane, plasma membrane, cytoplasm, extracellular space, GO:0005515, GO:0005102, protein binding, signaling receptor binding, GO:2001222, GO:2000010, GO:0060384, GO:0051045, GO:0048681, GO:0010640, GO:0007605, regulation of neuron migration, positive regulation of protein localization to cell surface, innervation, negative regulation of membrane protein ectodomain proteolysis, negative regulation of axon regeneration, regulation of platelet-derived growth factor receptor signaling pathway, sensory perception of sound, 57 64 60 112 80 103 63 66 54 ENSG00000198804 chrM 5904 7445 + MT-CO1 protein_coding 4512 GO:0045277, GO:0016021, GO:0005751, GO:0005751, GO:0005751, GO:0005750, GO:0005743, respiratory chain complex IV, integral component of membrane, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex IV, mitochondrial respiratory chain complex III, mitochondrial inner membrane, GO:0046872, GO:0020037, GO:0005515, GO:0004129, GO:0004129, metal ion binding, heme binding, protein binding, cytochrome-c oxidase activity, cytochrome-c oxidase activity, GO:0051602, GO:0046688, GO:0022904, GO:0021549, GO:0015990, GO:0009060, GO:0007568, GO:0006979, GO:0006123, GO:0006123, response to electrical stimulus, response to copper ion, respiratory electron transport chain, cerebellum development, electron transport coupled proton transport, aerobic respiration, aging, response to oxidative stress, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, 7706 6943 11902 18431 12779 20185 14629 8257 14231 ENSG00000198805 chr14 20468954 20477094 + PNP protein_coding This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]. 4860 GO:1904813, GO:0070062, GO:0034774, GO:0005856, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, cytoskeleton, cytosol, cytosol, cytoplasm, cytoplasm, nucleus, extracellular region, GO:0042802, GO:0042301, GO:0005515, GO:0004731, GO:0004731, GO:0002060, GO:0001882, identical protein binding, phosphate ion binding, protein binding, purine-nucleoside phosphorylase activity, purine-nucleoside phosphorylase activity, purine nucleobase binding, nucleoside binding, GO:0046638, GO:0043312, GO:0043101, GO:0043101, GO:0042493, GO:0042102, GO:0034418, GO:0032623, GO:0009165, GO:0006955, GO:0006738, GO:0006195, GO:0006148, GO:0006139, positive regulation of alpha-beta T cell differentiation, neutrophil degranulation, purine-containing compound salvage, purine-containing compound salvage, response to drug, positive regulation of T cell proliferation, urate biosynthetic process, interleukin-2 production, nucleotide biosynthetic process, immune response, nicotinamide riboside catabolic process, purine nucleotide catabolic process, inosine catabolic process, nucleobase-containing compound metabolic process, 55 59 211 3083 2719 2370 2333 1678 1299 ENSG00000198807 chr14 36657568 36679715 + PAX9 protein_coding This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]. 5083 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071363, GO:0060325, GO:0048856, GO:0045944, GO:0045892, GO:0042481, GO:0042476, GO:0007492, GO:0006357, cellular response to growth factor stimulus, face morphogenesis, anatomical structure development, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, regulation of odontogenesis, odontogenesis, endoderm development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000198812 chr12 69608564 69611162 - LRRC10 protein_coding 376132 GO:0030017, GO:0005856, GO:0005739, GO:0005634, sarcomere, cytoskeleton, mitochondrion, nucleus, GO:0051393, GO:0003779, alpha-actinin binding, actin binding, GO:0055013, cardiac muscle cell development, 0 0 0 0 0 0 0 0 0 ENSG00000198814 chrX 30653359 30731456 + GK protein_coding The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. 2710 GO:0070062, GO:0005829, GO:0005741, GO:0005739, extracellular exosome, cytosol, mitochondrial outer membrane, mitochondrion, GO:0016773, GO:0005524, GO:0005515, GO:0004370, GO:0004370, GO:0004370, phosphotransferase activity, alcohol group as acceptor, ATP binding, protein binding, glycerol kinase activity, glycerol kinase activity, glycerol kinase activity, GO:0046167, GO:0046167, GO:0019563, GO:0019432, GO:0016310, GO:0006641, GO:0006641, GO:0006071, GO:0006071, glycerol-3-phosphate biosynthetic process, glycerol-3-phosphate biosynthetic process, glycerol catabolic process, triglyceride biosynthetic process, phosphorylation, triglyceride metabolic process, triglyceride metabolic process, glycerol metabolic process, glycerol metabolic process, 3705 3315 5601 2210 3304 3288 2925 2534 2776 ENSG00000198815 chr1 42176539 42335877 - FOXJ3 protein_coding 22887 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0043565, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 735 755 948 476 649 717 510 609 567 ENSG00000198816 chr19 7515292 7521026 + ZNF358 protein_coding 140467 GO:0000785, chromatin, GO:0046872, GO:0003700, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0035115, GO:0021915, GO:0019827, GO:0006357, embryonic forelimb morphogenesis, neural tube development, stem cell population maintenance, regulation of transcription by RNA polymerase II, 4 7 4 4 5 1 2 1 6 ENSG00000198818 chr6 166319728 166342591 - SFT2D1 protein_coding 113402 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0016192, GO:0015031, vesicle-mediated transport, protein transport, 622 866 1215 344 643 756 370 508 505 ENSG00000198821 chr1 167430640 167518610 - CD247 protein_coding The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 919 GO:0042105, GO:0042101, GO:0016021, GO:0005886, GO:0005886, GO:0005737, alpha-beta T cell receptor complex, T cell receptor complex, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, GO:1990782, GO:0042802, GO:0042802, GO:0005515, GO:0004888, protein tyrosine kinase binding, identical protein binding, identical protein binding, protein binding, transmembrane signaling receptor activity, GO:2000010, GO:0050852, GO:0050852, GO:0050776, GO:0050690, GO:0038096, GO:0032623, GO:0002250, positive regulation of protein localization to cell surface, T cell receptor signaling pathway, T cell receptor signaling pathway, regulation of immune response, regulation of defense response to virus by virus, Fc-gamma receptor signaling pathway involved in phagocytosis, interleukin-2 production, adaptive immune response, 120 98 320 457 156 607 384 139 394 ENSG00000198822 chr7 86643914 86864884 + GRM3 protein_coding L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008]. 2913 GO:0097449, GO:0045211, GO:0043197, GO:0042734, GO:0030424, GO:0014069, GO:0005887, GO:0005886, astrocyte projection, postsynaptic membrane, dendritic spine, presynaptic membrane, axon, postsynaptic density, integral component of plasma membrane, plasma membrane, GO:0097110, GO:0008066, GO:0008066, GO:0005246, GO:0004930, GO:0001641, scaffold protein binding, glutamate receptor activity, glutamate receptor activity, calcium channel regulator activity, G protein-coupled receptor activity, group II metabotropic glutamate receptor activity, GO:0051966, GO:0007268, GO:0007216, GO:0007196, GO:0007194, GO:0007186, regulation of synaptic transmission, glutamatergic, chemical synaptic transmission, G protein-coupled glutamate receptor signaling pathway, adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000198824 chr13 114314335 114337626 + CHAMP1 protein_coding This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]. 283489 GO:0090543, GO:0016604, GO:0005819, GO:0005819, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000793, GO:0000777, GO:0000777, Flemming body, nuclear body, spindle, spindle, cytoplasm, nucleoplasm, nucleoplasm, nucleus, condensed chromosome, condensed chromosome kinetochore, condensed chromosome kinetochore, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0051315, GO:0051315, GO:0035372, GO:0035372, GO:0034501, GO:0034501, GO:0031134, GO:0031134, attachment of mitotic spindle microtubules to kinetochore, attachment of mitotic spindle microtubules to kinetochore, protein localization to microtubule, protein localization to microtubule, protein localization to kinetochore, protein localization to kinetochore, sister chromatid biorientation, sister chromatid biorientation, 34 28 42 35 30 29 18 29 31 ENSG00000198825 chr10 119726042 119829278 + INPP5F protein_coding The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. 22876 GO:0055037, GO:0045334, GO:0045334, GO:0043231, GO:0043025, GO:0031901, GO:0030425, GO:0030424, GO:0005905, GO:0005769, GO:0005769, recycling endosome, clathrin-coated endocytic vesicle, clathrin-coated endocytic vesicle, intracellular membrane-bounded organelle, neuronal cell body, early endosome membrane, dendrite, axon, clathrin-coated pit, early endosome, early endosome, GO:0052833, GO:0052832, GO:0043812, GO:0042803, GO:0034596, GO:0034596, GO:0034595, GO:0034595, GO:0008934, GO:0005515, inositol monophosphate 4-phosphatase activity, inositol monophosphate 3-phosphatase activity, phosphatidylinositol-4-phosphate phosphatase activity, protein homodimerization activity, phosphatidylinositol phosphate 4-phosphatase activity, phosphatidylinositol phosphate 4-phosphatase activity, phosphatidylinositol phosphate 5-phosphatase activity, phosphatidylinositol phosphate 5-phosphatase activity, inositol monophosphate 1-phosphatase activity, protein binding, GO:2001135, GO:2001135, GO:2000145, GO:0072583, GO:0051896, GO:0048681, GO:0048015, GO:0046856, GO:0046856, GO:0042532, GO:0033137, GO:0031161, GO:0014898, GO:0008344, GO:0006661, GO:0001921, regulation of endocytic recycling, regulation of endocytic recycling, regulation of cell motility, clathrin-dependent endocytosis, regulation of protein kinase B signaling, negative regulation of axon regeneration, phosphatidylinositol-mediated signaling, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, negative regulation of tyrosine phosphorylation of STAT protein, negative regulation of peptidyl-serine phosphorylation, phosphatidylinositol catabolic process, cardiac muscle hypertrophy in response to stress, adult locomotory behavior, phosphatidylinositol biosynthetic process, positive regulation of receptor recycling, 46 31 41 69 36 57 38 24 49 ENSG00000198826 chr15 32615144 32639949 + ARHGAP11A protein_coding This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]. 9824 GO:0005829, cytosol, GO:0005096, GO:0005096, GTPase activator activity, GTPase activator activity, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 1 1 0 0 0 0 1 1 0 ENSG00000198829 chr3 151873643 151884619 + SUCNR1 protein_coding This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]. 56670 GO:0070062, GO:0016021, GO:0005886, extracellular exosome, integral component of membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0060177, GO:0051592, GO:0050921, GO:0050729, GO:0042593, GO:0032611, GO:0007186, GO:0002281, GO:0002001, regulation of angiotensin metabolic process, response to calcium ion, positive regulation of chemotaxis, positive regulation of inflammatory response, glucose homeostasis, interleukin-1 beta production, G protein-coupled receptor signaling pathway, macrophage activation involved in immune response, renin secretion into blood stream, 27 60 53 1 5 7 4 3 3 ENSG00000198830 chr1 26472450 26475972 + HMGN2 protein_coding The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMGN1, the encoded protein may help maintain an open chromatin configuration around transcribable genes. The protein has also been found to have antimicrobial activity against bacteria, viruses and fungi. [provided by RefSeq, Oct 2014]. 3151 GO:0005737, GO:0005634, GO:0005634, GO:0005615, GO:0000785, cytoplasm, nucleus, nucleus, extracellular space, chromatin, GO:0031492, GO:0005515, GO:0003723, GO:0003682, nucleosomal DNA binding, protein binding, RNA binding, chromatin binding, GO:0061844, GO:0031640, GO:0006325, antimicrobial humoral immune response mediated by antimicrobial peptide, killing of cells of other organism, chromatin organization, 1990 2147 2576 1321 2018 1757 1490 1926 1491 ENSG00000198832 chr22 31104772 31120069 - SELENOM protein_coding The protein encoded by this gene belongs to the selenoprotein M/SEP15 family. The exact function of this protein is not known. It is localized in the perinuclear region, is highly expressed in the brain, and may be involved in neurodegenerative disorders. Transgenic mice with targeted deletion of this gene exhibit increased weight gain, suggesting a role for this gene in the regulation of body weight and energy metabolism. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. [provided by RefSeq, Dec 2016]. 140606 GO:0048471, GO:0005794, GO:0005788, perinuclear region of cytoplasm, Golgi apparatus, endoplasmic reticulum lumen, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0060612, GO:0055114, GO:0042445, GO:0035934, GO:0035264, GO:0010269, adipose tissue development, oxidation-reduction process, hormone metabolic process, corticosterone secretion, multicellular organism growth, response to selenium ion, 9 5 7 34 8 18 21 11 14 ENSG00000198833 chr6 89326625 89352848 - UBE2J1 protein_coding The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008]. 51465 GO:0016021, GO:0005789, GO:0005634, integral component of membrane, endoplasmic reticulum membrane, nucleus, GO:0061631, GO:0061631, GO:0031625, GO:0005524, GO:0005515, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ATP binding, protein binding, GO:1904153, GO:0030433, GO:0030433, GO:0018279, GO:0007286, GO:0000209, negative regulation of retrograde protein transport, ER to cytosol, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein N-linked glycosylation via asparagine, spermatid development, protein polyubiquitination, 3054 1986 2917 551 1000 739 830 907 925 ENSG00000198835 chr1 228149852 228159826 + GJC2 protein_coding This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]. 57165 GO:1990769, GO:0043209, GO:0043204, GO:0033270, GO:0016021, GO:0005922, GO:0005921, proximal neuron projection, myelin sheath, perikaryon, paranode region of axon, integral component of membrane, connexin complex, gap junction, GO:1903763, GO:0005243, gap junction channel activity involved in cell communication by electrical coupling, gap junction channel activity, GO:2000134, GO:1904427, GO:0070447, GO:0055085, GO:0010644, GO:0010628, GO:0009636, GO:0007420, GO:0007267, GO:0001932, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of calcium ion transmembrane transport, positive regulation of oligodendrocyte progenitor proliferation, transmembrane transport, cell communication by electrical coupling, positive regulation of gene expression, response to toxic substance, brain development, cell-cell signaling, regulation of protein phosphorylation, 8 9 9 31 28 26 22 32 48 ENSG00000198836 chr3 193593144 193697823 + OPA1 protein_coding The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]. 4976 GO:1904115, GO:0031966, GO:0031314, GO:0030425, GO:0030061, GO:0016021, GO:0016020, GO:0016020, GO:0005829, GO:0005758, GO:0005758, GO:0005743, GO:0005743, GO:0005743, GO:0005741, GO:0005739, GO:0005737, GO:0005654, axon cytoplasm, mitochondrial membrane, extrinsic component of mitochondrial inner membrane, dendrite, mitochondrial crista, integral component of membrane, membrane, membrane, cytosol, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrion, cytoplasm, nucleoplasm, GO:1901612, GO:0070300, GO:0044877, GO:0019900, GO:0008017, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GO:0003924, GO:0000287, cardiolipin binding, phosphatidic acid binding, protein-containing complex binding, kinase binding, microtubule binding, GTP binding, protein binding, GTPase activity, GTPase activity, GTPase activity, magnesium ion binding, GO:1905232, GO:1904643, GO:1902236, GO:0097749, GO:0090398, GO:0090201, GO:0090102, GO:0071456, GO:0071333, GO:0070584, GO:0061025, GO:0061003, GO:0060041, GO:0051602, GO:0051259, GO:0048312, GO:0048285, GO:0046628, GO:0046039, GO:0043066, GO:0036444, GO:0031667, GO:0019896, GO:0014850, GO:0014042, GO:0010636, GO:0008053, GO:0008053, GO:0008053, GO:0007601, GO:0007007, GO:0007005, GO:0007005, GO:0006915, GO:0003374, GO:0000266, GO:0000266, GO:0000002, cellular response to L-glutamate, response to curcumin, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, membrane tubulation, cellular senescence, negative regulation of release of cytochrome c from mitochondria, cochlea development, cellular response to hypoxia, cellular response to glucose stimulus, mitochondrion morphogenesis, membrane fusion, positive regulation of dendritic spine morphogenesis, retina development in camera-type eye, response to electrical stimulus, protein complex oligomerization, intracellular distribution of mitochondria, organelle fission, positive regulation of insulin receptor signaling pathway, GTP metabolic process, negative regulation of apoptotic process, calcium import into the mitochondrion, response to nutrient levels, axonal transport of mitochondrion, response to muscle activity, positive regulation of neuron maturation, positive regulation of mitochondrial fusion, mitochondrial fusion, mitochondrial fusion, mitochondrial fusion, visual perception, inner mitochondrial membrane organization, mitochondrion organization, mitochondrion organization, apoptotic process, dynamin family protein polymerization involved in mitochondrial fission, mitochondrial fission, mitochondrial fission, mitochondrial genome maintenance, 258 295 400 264 280 358 267 223 192 ENSG00000198837 chr1 153929501 153946696 - DENND4B protein_coding 9909 GO:0031410, GO:0005829, GO:0005794, GO:0005654, cytoplasmic vesicle, cytosol, Golgi apparatus, nucleoplasm, GO:0005085, GO:0005085, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0032483, GO:0032483, regulation of Rab protein signal transduction, regulation of Rab protein signal transduction, 1776 2182 2125 2851 3572 3267 2698 2373 2186 ENSG00000198838 chr15 33310945 33866121 + RYR3 protein_coding The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 6263 GO:0048471, GO:0042383, GO:0034704, GO:0033017, GO:0033017, GO:0033017, GO:0030659, GO:0030018, GO:0016529, GO:0016021, GO:0005886, GO:0005790, perinuclear region of cytoplasm, sarcolemma, calcium channel complex, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, cytoplasmic vesicle membrane, Z disc, sarcoplasmic reticulum, integral component of membrane, plasma membrane, smooth endoplasmic reticulum, GO:0048763, GO:0015278, GO:0005516, GO:0005509, GO:0005219, GO:0005219, GO:0005219, calcium-induced calcium release activity, calcium-release channel activity, calmodulin binding, calcium ion binding, ryanodine-sensitive calcium-release channel activity, ryanodine-sensitive calcium-release channel activity, ryanodine-sensitive calcium-release channel activity, GO:1903779, GO:0071318, GO:0071313, GO:0071286, GO:0071277, GO:0070588, GO:0051481, GO:0051289, GO:0051209, GO:0034220, GO:0006816, regulation of cardiac conduction, cellular response to ATP, cellular response to caffeine, cellular response to magnesium ion, cellular response to calcium ion, calcium ion transmembrane transport, negative regulation of cytosolic calcium ion concentration, protein homotetramerization, release of sequestered calcium ion into cytosol, ion transmembrane transport, calcium ion transport, 2 2 1 11 5 10 8 4 8 ENSG00000198839 chr7 112206588 112343096 + ZNF277 protein_coding 11179 GO:0005634, nucleus, GO:0046872, GO:0000978, metal ion binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:2000772, GO:0070301, regulation of cellular senescence, cellular response to hydrogen peroxide, 42 34 95 75 59 86 38 46 73 ENSG00000198840 chrM 10059 10404 + MT-ND3 protein_coding 4537 GO:0030964, GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, NADH dehydrogenase complex, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, GO:0008137, GO:0005515, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, protein binding, GO:0071385, GO:0032981, GO:0009642, GO:0006979, GO:0006120, GO:0006120, cellular response to glucocorticoid stimulus, mitochondrial respiratory chain complex I assembly, response to light intensity, response to oxidative stress, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 3002 2036 2321 7333 5018 5025 5919 2860 3448 ENSG00000198841 chr1 52032103 52033816 - KTI12 protein_coding 112970 GO:0033588, elongator holoenzyme complex, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0006357, GO:0002098, regulation of transcription by RNA polymerase II, tRNA wobble uridine modification, 11 6 13 22 11 11 17 12 16 ENSG00000198842 chr1 167094045 167129165 + DUSP27 protein_coding 92235 GO:0030017, sarcomere, GO:0008138, protein tyrosine/serine/threonine phosphatase activity, GO:0006470, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000198843 chr3 150602875 150630445 + SELENOT protein_coding This gene encodes a selenoprotein, containing a selenocysteine (Sec) residue at the active site. Sec is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is localized in the endoplasmic reticulum. It belongs to the SelWTH family that possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif found in several redox active proteins. Studies in mice indicate a crucial role for this gene in the protection of dopaminergic neurons against oxidative stress in Parkinson's disease, and in the control of glucose homeostasis in pancreatic beta-cells. Pseudogenes of this locus have been identified on chromosomes 9 and 5. [provided by RefSeq, Sep 2017]. 51714 GO:0016021, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0008430, GO:0004791, GO:0004791, selenium binding, thioredoxin-disulfide reductase activity, thioredoxin-disulfide reductase activity, GO:0098869, GO:0060124, GO:0055114, GO:0045454, GO:0045454, GO:0042593, GO:0035773, GO:0031016, GO:0009749, GO:0007204, GO:0001514, cellular oxidant detoxification, positive regulation of growth hormone secretion, oxidation-reduction process, cell redox homeostasis, cell redox homeostasis, glucose homeostasis, insulin secretion involved in cellular response to glucose stimulus, pancreas development, response to glucose, positive regulation of cytosolic calcium ion concentration, selenocysteine incorporation, 1191 795 1391 347 621 525 427 576 563 ENSG00000198844 chr17 8310241 8322516 + ARHGEF15 protein_coding Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]. 22899 GO:0030425, GO:0005737, dendrite, cytoplasm, GO:0005515, GO:0005096, GO:0005085, GO:0005085, GO:0005085, protein binding, GTPase activator activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:2000297, GO:0090630, GO:0061299, GO:0051496, GO:0050790, negative regulation of synapse maturation, activation of GTPase activity, retina vasculature morphogenesis in camera-type eye, positive regulation of stress fiber assembly, regulation of catalytic activity, 0 0 0 0 0 0 0 0 0 ENSG00000198846 chr8 58805418 59119208 - TOX protein_coding The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]. 9760 GO:0005634, GO:0005634, nucleus, nucleus, GO:0031490, GO:0031490, GO:0005515, chromatin DNA binding, chromatin DNA binding, protein binding, GO:2000179, GO:1902232, GO:1901537, GO:0048541, GO:0048535, GO:0043375, GO:0043373, GO:0032825, GO:0021895, GO:0010976, GO:0006357, GO:0006325, GO:0002521, GO:0002364, GO:0002362, GO:0001779, positive regulation of neural precursor cell proliferation, regulation of positive thymic T cell selection, positive regulation of DNA demethylation, Peyer's patch development, lymph node development, CD8-positive, alpha-beta T cell lineage commitment, CD4-positive, alpha-beta T cell lineage commitment, positive regulation of natural killer cell differentiation, cerebral cortex neuron differentiation, positive regulation of neuron projection development, regulation of transcription by RNA polymerase II, chromatin organization, leukocyte differentiation, NK T cell lineage commitment, CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment, natural killer cell differentiation, 21 12 25 58 14 49 33 9 67 ENSG00000198848 chr16 55802851 55833337 - CES1 protein_coding This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. 1066 GO:0005829, GO:0005811, GO:0005788, GO:0005783, GO:0005737, GO:0005615, cytosol, lipid droplet, endoplasmic reticulum lumen, endoplasmic reticulum, cytoplasm, extracellular space, GO:0080030, GO:0052689, GO:0052689, GO:0047374, GO:0004806, GO:0004771, GO:0004771, methyl indole-3-acetate esterase activity, carboxylic ester hydrolase activity, carboxylic ester hydrolase activity, methylumbelliferyl-acetate deacetylase activity, triglyceride lipase activity, sterol esterase activity, sterol esterase activity, GO:0120188, GO:0090205, GO:0090122, GO:0071404, GO:0071397, GO:0070857, GO:0051791, GO:0043691, GO:0042632, GO:0030855, GO:0016042, GO:0010887, GO:0010875, GO:0009636, GO:0008203, GO:0006805, GO:0006695, GO:0002003, regulation of bile acid secretion, positive regulation of cholesterol metabolic process, cholesterol ester hydrolysis involved in cholesterol transport, cellular response to low-density lipoprotein particle stimulus, cellular response to cholesterol, regulation of bile acid biosynthetic process, medium-chain fatty acid metabolic process, reverse cholesterol transport, cholesterol homeostasis, epithelial cell differentiation, lipid catabolic process, negative regulation of cholesterol storage, positive regulation of cholesterol efflux, response to toxic substance, cholesterol metabolic process, xenobiotic metabolic process, cholesterol biosynthetic process, angiotensin maturation, 0 0 2 0 0 3 0 1 0 ENSG00000198851 chr11 118304545 118316175 + CD3E protein_coding The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]. 916 GO:0044297, GO:0043197, GO:0042105, GO:0042101, GO:0042101, GO:0009897, GO:0009897, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0001772, cell body, dendritic spine, alpha-beta T cell receptor complex, T cell receptor complex, T cell receptor complex, external side of plasma membrane, external side of plasma membrane, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, immunological synapse, GO:0046982, GO:0042802, GO:0042608, GO:0030159, GO:0019901, GO:0017124, GO:0005515, GO:0004888, GO:0004888, protein heterodimerization activity, identical protein binding, T cell receptor binding, signaling receptor complex adaptor activity, protein kinase binding, SH3 domain binding, protein binding, transmembrane signaling receptor activity, transmembrane signaling receptor activity, GO:0097190, GO:0065003, GO:0050852, GO:0050850, GO:0050776, GO:0050731, GO:0046641, GO:0045879, GO:0045060, GO:0045059, GO:0042981, GO:0042110, GO:0042102, GO:0033634, GO:0032753, GO:0032743, GO:0032729, GO:0031295, GO:0021549, GO:0016358, GO:0010629, GO:0010628, GO:0007584, GO:0007186, GO:0007172, GO:0007169, GO:0007166, GO:0007166, GO:0002669, GO:0002250, GO:0001954, apoptotic signaling pathway, protein-containing complex assembly, T cell receptor signaling pathway, positive regulation of calcium-mediated signaling, regulation of immune response, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of alpha-beta T cell proliferation, negative regulation of smoothened signaling pathway, negative thymic T cell selection, positive thymic T cell selection, regulation of apoptotic process, T cell activation, positive regulation of T cell proliferation, positive regulation of cell-cell adhesion mediated by integrin, positive regulation of interleukin-4 production, positive regulation of interleukin-2 production, positive regulation of interferon-gamma production, T cell costimulation, cerebellum development, dendrite development, negative regulation of gene expression, positive regulation of gene expression, response to nutrient, G protein-coupled receptor signaling pathway, signal complex assembly, transmembrane receptor protein tyrosine kinase signaling pathway, cell surface receptor signaling pathway, cell surface receptor signaling pathway, positive regulation of T cell anergy, adaptive immune response, positive regulation of cell-matrix adhesion, 213 141 460 897 287 1261 783 228 846 ENSG00000198853 chr9 35490127 35561898 + RUSC2 protein_coding This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]. 9853 GO:0070062, GO:0031410, GO:0031410, GO:0005829, extracellular exosome, cytoplasmic vesicle, cytoplasmic vesicle, cytosol, GO:0031267, GO:0005515, small GTPase binding, protein binding, GO:0008150, biological_process, 3 6 7 0 7 3 0 1 4 ENSG00000198854 chr1 152719522 152720470 + C1orf68 protein_coding 100129271 GO:0003674, molecular_function, GO:0008544, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000198855 chr12 108515185 108525837 + FICD protein_coding 11153 GO:0030176, integral component of endoplasmic reticulum membrane, GO:0070733, GO:0051087, GO:0044603, GO:0042803, GO:0042802, GO:0030544, GO:0005524, GO:0005515, protein adenylyltransferase activity, chaperone binding, protein adenylylhydrolase activity, protein homodimerization activity, identical protein binding, Hsp70 protein binding, ATP binding, protein binding, GO:1903894, GO:0044602, GO:0034976, GO:0034260, GO:0018117, GO:0006986, regulation of IRE1-mediated unfolded protein response, protein deadenylylation, response to endoplasmic reticulum stress, negative regulation of GTPase activity, protein adenylylation, response to unfolded protein, 72 37 71 42 54 42 52 30 37 ENSG00000198856 chr4 108650584 108667820 + OSTC protein_coding 58505 GO:0016021, GO:0008250, GO:0008250, integral component of membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, GO:0005515, GO:0004579, protein binding, dolichyl-diphosphooligosaccharide-protein glycotransferase activity, GO:0018279, protein N-linked glycosylation via asparagine, 33 25 35 74 31 92 75 44 50 ENSG00000198857 chr1 119601340 119609250 + HSD3BP5 transcribed_unprocessed_pseudogene 0 0 1 0 5 8 8 0 0 ENSG00000198858 chr19 896503 913245 - R3HDM4 protein_coding 91300 GO:0005634, nucleus, GO:0003676, nucleic acid binding, 9765 8489 11006 3914 7497 6073 5681 6612 5765 ENSG00000198860 chr1 184051651 184123978 + TSEN15 protein_coding This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014]. 116461 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0005515, GO:0004518, GO:0003676, protein binding, nuclease activity, nucleic acid binding, GO:0090305, GO:0006397, GO:0006388, nucleic acid phosphodiester bond hydrolysis, mRNA processing, tRNA splicing, via endonucleolytic cleavage and ligation, 27 18 47 53 24 41 52 23 70 ENSG00000198862 chr21 28928144 28992956 - LTN1 protein_coding Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]. 26046 GO:1990112, GO:0005829, RQC complex, cytosol, GO:0061630, GO:0043023, GO:0008270, GO:0005515, ubiquitin protein ligase activity, ribosomal large subunit binding, zinc ion binding, protein binding, GO:1990116, GO:0072344, GO:0051865, ribosome-associated ubiquitin-dependent protein catabolic process, rescue of stalled ribosome, protein autoubiquitination, 901 738 865 606 754 702 700 556 588 ENSG00000198863 chr17 42980565 42993690 + RUNDC1 protein_coding This gene encodes a protein that contains a RUN (RPIP8, UNC-14 and NESCA) domain and a coiled coil domain. The encoded protein may negatively regulate p53 transcriptional activity. This gene is a potential candidate gene for predisposition to glioma in humans. [provided by RefSeq, May 2017]. 146923 GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 165 167 182 99 150 104 111 145 62 ENSG00000198865 chr5 42756801 42802360 + CCDC152 protein_coding 100129792 GO:0005515, protein binding, 9 8 5 13 6 30 7 7 30 ENSG00000198868 chr5 134928030 134928326 - MTND4LP30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198870 chr9 133376367 133406096 + STKLD1 protein_coding 169436 GO:0005524, GO:0004674, ATP binding, protein serine/threonine kinase activity, GO:0006468, protein phosphorylation, 0 0 1 2 5 4 2 0 2 ENSG00000198873 chr10 119207589 119459742 + GRK5 protein_coding This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]. 2869 GO:0031965, GO:0016607, GO:0005886, GO:0005886, GO:0005829, GO:0005737, nuclear membrane, nuclear speck, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0047696, GO:0047696, GO:0005543, GO:0005524, GO:0005515, GO:0005080, GO:0004703, GO:0004674, beta-adrenergic receptor kinase activity, beta-adrenergic receptor kinase activity, phospholipid binding, ATP binding, protein binding, protein kinase C binding, G protein-coupled receptor kinase activity, protein serine/threonine kinase activity, GO:0051726, GO:0046777, GO:0045444, GO:0043066, GO:0016055, GO:0008284, GO:0008277, GO:0007217, GO:0007188, GO:0007186, GO:0006915, regulation of cell cycle, protein autophosphorylation, fat cell differentiation, negative regulation of apoptotic process, Wnt signaling pathway, positive regulation of cell population proliferation, regulation of G protein-coupled receptor signaling pathway, tachykinin receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, apoptotic process, 307 401 378 211 297 227 174 268 154 ENSG00000198874 chr7 66995173 67239519 + TYW1 protein_coding Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 55253 GO:0102521, GO:0051539, GO:0046872, GO:0010181, tRNA-4-demethylwyosine synthase activity, 4 iron, 4 sulfur cluster binding, metal ion binding, FMN binding, GO:0055114, GO:0031591, oxidation-reduction process, wybutosine biosynthetic process, 151 148 195 120 140 223 143 128 126 ENSG00000198876 chr9 34086387 34127399 - DCAF12 protein_coding This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]. 25853 GO:0080008, GO:0080008, GO:0005813, GO:0005737, Cul4-RING E3 ubiquitin ligase complex, Cul4-RING E3 ubiquitin ligase complex, centrosome, cytoplasm, GO:0005515, protein binding, GO:0016567, protein ubiquitination, 226 239 289 187 411 282 315 266 285 ENSG00000198879 chr10 7158624 7411486 - SFMBT2 protein_coding 57713 GO:0043231, GO:0016607, GO:0016604, GO:0016235, GO:0005829, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, nuclear speck, nuclear body, aggresome, cytosol, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0042393, GO:0005515, GO:0003714, GO:0003682, histone binding, histone binding, protein binding, transcription corepressor activity, chromatin binding, GO:0045892, GO:0010629, negative regulation of transcription, DNA-templated, negative regulation of gene expression, 289 443 743 355 192 335 297 141 205 ENSG00000198881 chrX 64224196 64230631 - ASB12 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]. 142689 GO:0005829, GO:0000151, GO:0000151, cytosol, ubiquitin ligase complex, ubiquitin ligase complex, GO:0061630, GO:0061630, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein binding, GO:0043687, GO:0016567, GO:0016567, post-translational protein modification, protein ubiquitination, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000198883 chrX 152988824 152994127 - PNMA5 protein_coding This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]. 114824 GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0043065, positive regulation of apoptotic process, 5 10 3 3 5 1 8 5 6 ENSG00000198885 chr2 96325331 96330517 + ITPRIPL1 protein_coding 150771 GO:0016021, GO:0016020, GO:0016020, integral component of membrane, membrane, membrane, GO:0005515, protein binding, 13 8 46 16 7 29 6 9 30 ENSG00000198886 chrM 10760 12137 + MT-ND4 protein_coding 4538 GO:0045271, GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, respiratory chain complex I, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0048039, GO:0008137, GO:0003954, ubiquinone binding, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase activity, GO:0045471, GO:0035094, GO:0032981, GO:0021549, GO:0015990, GO:0009060, GO:0007568, GO:0006120, GO:0006120, GO:0001701, GO:0001666, response to ethanol, response to nicotine, mitochondrial respiratory chain complex I assembly, cerebellum development, electron transport coupled proton transport, aerobic respiration, aging, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, in utero embryonic development, response to hypoxia, 8869 7695 8942 22156 16098 17590 18625 9537 12983 ENSG00000198887 chr9 70258962 70354888 + SMC5 protein_coding 23137 GO:0035861, GO:0035061, GO:0030915, GO:0030054, GO:0016607, GO:0016605, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000803, GO:0000781, GO:0000775, site of double-strand break, interchromatin granule, Smc5-Smc6 complex, cell junction, nuclear speck, PML body, cytoplasm, nucleoplasm, nucleus, nucleus, sex chromosome, chromosome, telomeric region, chromosome, centromeric region, GO:0005524, GO:0005515, ATP binding, protein binding, GO:0090398, GO:0071459, GO:0051984, GO:0051301, GO:0044772, GO:0034184, GO:0030261, GO:0019827, GO:0018393, GO:0007062, GO:0006974, GO:0006303, GO:0000724, GO:0000722, cellular senescence, protein localization to chromosome, centromeric region, positive regulation of chromosome segregation, cell division, mitotic cell cycle phase transition, positive regulation of maintenance of mitotic sister chromatid cohesion, chromosome condensation, stem cell population maintenance, internal peptidyl-lysine acetylation, sister chromatid cohesion, cellular response to DNA damage stimulus, double-strand break repair via nonhomologous end joining, double-strand break repair via homologous recombination, telomere maintenance via recombination, 306 262 431 292 257 349 373 197 305 ENSG00000198888 chrM 3307 4262 + MT-ND1 protein_coding 4535 GO:0043025, GO:0031966, GO:0030425, GO:0016021, GO:0005747, GO:0005747, GO:0005747, GO:0005743, neuronal cell body, mitochondrial membrane, dendrite, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, GO:0008137, GO:0005515, GO:0003954, NADH dehydrogenase (ubiquinone) activity, protein binding, NADH dehydrogenase activity, GO:0042493, GO:0033194, GO:0032981, GO:0014070, GO:0009060, GO:0006120, GO:0006120, response to drug, response to hydroperoxide, mitochondrial respiratory chain complex I assembly, response to organic cyclic compound, aerobic respiration, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 6905 4910 5086 18070 11793 10938 15277 6653 7842 ENSG00000198889 chrX 126549383 126552851 - DCAF12L1 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]. 139170 GO:0080008, GO:0005575, Cul4-RING E3 ubiquitin ligase complex, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000198890 chr1 107056679 107067636 + PRMT6 protein_coding The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [provided by RefSeq, Sep 2011]. 55170 GO:0005730, GO:0005654, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleoplasm, nucleus, GO:0070612, GO:0070611, GO:0044020, GO:0042393, GO:0042054, GO:0035242, GO:0035241, GO:0016274, GO:0016274, GO:0008469, GO:0008469, GO:0008469, GO:0005515, GO:0003682, histone methyltransferase activity (H2A-R3 specific), histone methyltransferase activity (H3-R2 specific), histone methyltransferase activity (H4-R3 specific), histone binding, histone methyltransferase activity, protein-arginine omega-N asymmetric methyltransferase activity, protein-arginine omega-N monomethyltransferase activity, protein-arginine N-methyltransferase activity, protein-arginine N-methyltransferase activity, histone-arginine N-methyltransferase activity, histone-arginine N-methyltransferase activity, histone-arginine N-methyltransferase activity, protein binding, chromatin binding, GO:1901796, GO:0090398, GO:0051572, GO:0045892, GO:0045652, GO:0043985, GO:0034970, GO:0031064, GO:0019919, GO:0016571, GO:0016032, GO:0010821, GO:0006284, GO:0000122, regulation of signal transduction by p53 class mediator, cellular senescence, negative regulation of histone H3-K4 methylation, negative regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, histone H4-R3 methylation, histone H3-R2 methylation, negative regulation of histone deacetylation, peptidyl-arginine methylation, to asymmetrical-dimethyl arginine, histone methylation, viral process, regulation of mitochondrion organization, base-excision repair, negative regulation of transcription by RNA polymerase II, 6 3 29 9 3 15 12 8 10 ENSG00000198892 chr1 201888680 201892306 + SHISA4 protein_coding 149345 GO:0016021, integral component of membrane, GO:0005515, protein binding, 7 13 8 2 10 0 0 3 6 ENSG00000198894 chr14 77098097 77117287 + CIPC protein_coding 85457 GO:0005829, GO:0005634, GO:0005634, cytosol, nucleus, nucleus, GO:0005515, protein binding, GO:0048511, GO:0045892, GO:0045892, GO:0042754, rhythmic process, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of circadian rhythm, 148 178 179 104 113 69 87 92 72 ENSG00000198898 chr7 116811070 116922049 + CAPZA2 protein_coding The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]. 830 GO:0070062, GO:0030863, GO:0016020, GO:0015629, GO:0008290, GO:0005903, GO:0005829, GO:0005576, extracellular exosome, cortical cytoskeleton, membrane, actin cytoskeleton, F-actin capping protein complex, brush border, cytosol, extracellular region, GO:0051015, GO:0005515, actin filament binding, protein binding, GO:0065003, GO:0051016, GO:0045087, GO:0030036, GO:0019886, GO:0007596, GO:0006888, protein-containing complex assembly, barbed-end actin filament capping, innate immune response, actin cytoskeleton organization, antigen processing and presentation of exogenous peptide antigen via MHC class II, blood coagulation, endoplasmic reticulum to Golgi vesicle-mediated transport, 2686 1898 3045 934 1465 1303 1202 1447 1163 ENSG00000198899 chrM 8527 9207 + MT-ATP6 protein_coding 4508 GO:0045263, GO:0045259, GO:0016021, GO:0005753, GO:0005753, GO:0005743, proton-transporting ATP synthase complex, coupling factor F(o), proton-transporting ATP synthase complex, integral component of membrane, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, GO:0046933, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, protein binding, GO:0055093, GO:0042776, GO:0042776, GO:0042407, GO:0015986, GO:0007568, GO:0006754, response to hyperoxia, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, aging, ATP biosynthetic process, 4010 3421 4713 10879 7943 10228 9230 4599 7224 ENSG00000198900 chr20 41028818 41124487 + TOP1 protein_coding This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]. 7150 GO:0043204, GO:0032993, GO:0005730, GO:0005730, GO:0005730, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0001650, GO:0000932, GO:0000228, perikaryon, protein-DNA complex, nucleolus, nucleolus, nucleolus, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, P-body, nuclear chromosome, GO:0097100, GO:0019904, GO:0005524, GO:0005515, GO:0004674, GO:0003917, GO:0003917, GO:0003917, GO:0003723, GO:0003697, GO:0003690, GO:0003682, GO:0003677, GO:0003677, GO:0000978, supercoiled DNA binding, protein domain specific binding, ATP binding, protein binding, protein serine/threonine kinase activity, DNA topoisomerase type I (single strand cut, ATP-independent) activity, DNA topoisomerase type I (single strand cut, ATP-independent) activity, DNA topoisomerase type I (single strand cut, ATP-independent) activity, RNA binding, single-stranded DNA binding, double-stranded DNA binding, chromatin binding, DNA binding, DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0042493, GO:0040016, GO:0032922, GO:0018105, GO:0016310, GO:0016032, GO:0012501, GO:0007623, GO:0007059, GO:0006338, GO:0006338, GO:0006265, GO:0006265, GO:0006265, GO:0006260, response to drug, embryonic cleavage, circadian regulation of gene expression, peptidyl-serine phosphorylation, phosphorylation, viral process, programmed cell death, circadian rhythm, chromosome segregation, chromatin remodeling, chromatin remodeling, DNA topological change, DNA topological change, DNA topological change, DNA replication, 3980 3145 6342 1829 2105 2482 1658 1431 1693 ENSG00000198901 chr15 90966038 90995629 - PRC1 protein_coding This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. 9055 GO:1990023, GO:0070938, GO:0045171, GO:0030496, GO:0015630, GO:0005886, GO:0005876, GO:0005829, GO:0005819, GO:0005819, GO:0005737, GO:0005694, GO:0005654, GO:0005634, GO:0000922, mitotic spindle midzone, contractile ring, intercellular bridge, midbody, microtubule cytoskeleton, plasma membrane, spindle microtubule, cytosol, spindle, spindle, cytoplasm, chromosome, nucleoplasm, nucleus, spindle pole, GO:0019901, GO:0019894, GO:0008017, GO:0005515, protein kinase binding, kinesin binding, microtubule binding, protein binding, GO:0051256, GO:0032465, GO:0008284, GO:0001578, GO:0000226, GO:0000022, mitotic spindle midzone assembly, regulation of cytokinesis, positive regulation of cell population proliferation, microtubule bundle formation, microtubule cytoskeleton organization, mitotic spindle elongation, 0 0 4 5 2 5 0 2 0 ENSG00000198908 chrX 102720688 102753540 + BHLHB9 protein_coding This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]. 80823 GO:0070062, GO:0005829, GO:0005654, extracellular exosome, cytosol, nucleoplasm, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, GO:0061003, GO:0051965, GO:0050769, GO:0043524, GO:0007611, positive regulation of dendritic spine morphogenesis, positive regulation of synapse assembly, positive regulation of neurogenesis, negative regulation of neuron apoptotic process, learning or memory, 3 1 3 5 2 4 7 4 4 ENSG00000198909 chr17 63622415 63696303 + MAP3K3 protein_coding This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 4215 GO:0005829, cytosol, GO:0046872, GO:0005524, GO:0005515, GO:0004709, GO:0004672, metal ion binding, ATP binding, protein binding, MAP kinase kinase kinase activity, protein kinase activity, GO:2000773, GO:1900745, GO:0090050, GO:0071864, GO:0070498, GO:0046777, GO:0043123, GO:0035556, GO:0001568, GO:0000186, GO:0000165, negative regulation of cellular senescence, positive regulation of p38MAPK cascade, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell proliferation in bone marrow, interleukin-1-mediated signaling pathway, protein autophosphorylation, positive regulation of I-kappaB kinase/NF-kappaB signaling, intracellular signal transduction, blood vessel development, activation of MAPKK activity, MAPK cascade, 2790 3161 3207 2537 3653 3156 2922 2572 2588 ENSG00000198910 chrX 153861514 153886174 - L1CAM protein_coding The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]. 3897 GO:0062023, GO:0044295, GO:0043025, GO:0043025, GO:0030425, GO:0030424, GO:0030424, GO:0016021, GO:0009986, GO:0009986, GO:0005925, GO:0005886, GO:0005886, GO:0005886, collagen-containing extracellular matrix, axonal growth cone, neuronal cell body, neuronal cell body, dendrite, axon, axon, integral component of membrane, cell surface, cell surface, focal adhesion, plasma membrane, plasma membrane, plasma membrane, GO:0019904, GO:0008046, GO:0005515, protein domain specific binding, axon guidance receptor activity, protein binding, GO:0061564, GO:0050900, GO:0050808, GO:0050808, GO:0045773, GO:0031175, GO:0016477, GO:0007411, GO:0007411, GO:0007399, GO:0007160, GO:0007156, GO:0007155, GO:0006935, axon development, leukocyte migration, synapse organization, synapse organization, positive regulation of axon extension, neuron projection development, cell migration, axon guidance, axon guidance, nervous system development, cell-matrix adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, chemotaxis, 0 0 0 0 0 0 7 1 0 ENSG00000198911 chr22 41833079 41907308 + SREBF2 protein_coding This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 6721 GO:0043231, GO:0032937, GO:0012507, GO:0005829, GO:0005789, GO:0005783, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000139, intracellular membrane-bounded organelle, SREBP-SCAP-Insig complex, ER to Golgi transport vesicle membrane, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, Golgi membrane, GO:1990837, GO:0070888, GO:0046983, GO:0008022, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000247, sequence-specific double-stranded DNA binding, E-box binding, protein dimerization activity, protein C-terminus binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, C-8 sterol isomerase activity, GO:1903955, GO:1903146, GO:0090370, GO:0071499, GO:0071404, GO:0045944, GO:0045944, GO:0045540, GO:0042632, GO:0032933, GO:0032933, GO:0010886, GO:0010886, GO:0009267, GO:0008593, GO:0008203, GO:0006629, GO:0006357, GO:0000122, positive regulation of protein targeting to mitochondrion, regulation of autophagy of mitochondrion, negative regulation of cholesterol efflux, cellular response to laminar fluid shear stress, cellular response to low-density lipoprotein particle stimulus, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of cholesterol biosynthetic process, cholesterol homeostasis, SREBP signaling pathway, SREBP signaling pathway, positive regulation of cholesterol storage, positive regulation of cholesterol storage, cellular response to starvation, regulation of Notch signaling pathway, cholesterol metabolic process, lipid metabolic process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 144 191 369 211 115 247 251 127 170 ENSG00000198912 chr1 3889125 3900293 - C1orf174 protein_coding 339448 GO:0005654, nucleoplasm, GO:0005515, protein binding, 62 71 86 58 103 93 77 99 58 ENSG00000198914 chr2 104855511 104858574 + POU3F3 protein_coding This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]. 5455 GO:0005654, GO:0005634, GO:0005634, GO:0000785, GO:0000785, nucleoplasm, nucleus, nucleus, chromatin, chromatin, GO:0071837, GO:0043565, GO:0042803, GO:0003700, GO:0000981, GO:0000981, GO:0000978, HMG box domain binding, sequence-specific DNA binding, protein homodimerization activity, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0072240, GO:0072236, GO:0072233, GO:0072227, GO:0072218, GO:0048878, GO:0045893, GO:0045893, GO:0045892, GO:0043066, GO:0021869, GO:0021799, GO:0010628, GO:0008284, GO:0007588, GO:0007417, GO:0006357, metanephric DCT cell differentiation, metanephric loop of Henle development, metanephric thick ascending limb development, metanephric macula densa development, metanephric ascending thin limb development, chemical homeostasis, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of apoptotic process, forebrain ventricular zone progenitor cell division, cerebral cortex radially oriented cell migration, positive regulation of gene expression, positive regulation of cell population proliferation, excretion, central nervous system development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000198915 chr10 43194535 43266919 - RASGEF1A protein_coding 221002 GO:0005829, cytosol, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0046579, GO:0016477, GO:0007264, GO:0000165, positive regulation of Ras protein signal transduction, cell migration, small GTPase mediated signal transduction, MAPK cascade, 66 54 91 48 36 81 40 43 44 ENSG00000198917 chr9 128819651 128829821 - SPOUT1 protein_coding 51490 GO:0072686, GO:0072686, GO:0031616, GO:0031616, GO:0005737, GO:0000777, GO:0000776, GO:0000776, mitotic spindle, mitotic spindle, spindle pole centrosome, spindle pole centrosome, cytoplasm, condensed chromosome kinetochore, kinetochore, kinetochore, GO:0035198, GO:0035198, GO:0008168, GO:0005515, GO:0003723, miRNA binding, miRNA binding, methyltransferase activity, protein binding, RNA binding, GO:0051661, GO:0051661, GO:0051301, GO:0035196, GO:0035196, GO:0032259, GO:0010608, GO:0007049, maintenance of centrosome location, maintenance of centrosome location, cell division, production of miRNAs involved in gene silencing by miRNA, production of miRNAs involved in gene silencing by miRNA, methylation, posttranscriptional regulation of gene expression, cell cycle, 56 58 75 106 71 73 80 59 55 ENSG00000198918 chrX 119786504 119791643 - RPL39 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6170 GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0022625, GO:0005829, GO:0005615, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosol, extracellular space, GO:0003735, GO:0003735, GO:0003723, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0061844, GO:0050830, GO:0019731, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006412, GO:0002227, GO:0002181, GO:0000184, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, antibacterial humoral response, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, translation, innate immune response in mucosa, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 617 460 830 1207 835 1398 923 753 1144 ENSG00000198919 chr3 108589682 108694846 + DZIP3 protein_coding 9666 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0061630, GO:0046872, GO:0031593, GO:0031593, GO:0019902, GO:0005515, GO:0004842, GO:0004842, GO:0003723, GO:0003723, GO:0003723, ubiquitin protein ligase activity, metal ion binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, phosphatase binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, RNA binding, RNA binding, RNA binding, GO:0000209, GO:0000209, protein polyubiquitination, protein polyubiquitination, 46 27 43 105 25 69 90 15 42 ENSG00000198920 chr17 6578148 6640927 - KIAA0753 protein_coding This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]. 9851 GO:0034451, GO:0005829, GO:0005814, GO:0005813, centriolar satellite, cytosol, centriole, centrosome, GO:0005515, protein binding, GO:0071539, GO:0007099, protein localization to centrosome, centriole replication, 265 225 248 228 290 130 228 184 188 ENSG00000198923 chr12 75964799 75964995 + AC011611.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000198924 chr10 113834725 113854383 - DCLRE1A protein_coding This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. 9937 GO:0005654, GO:0005654, GO:0001650, nucleoplasm, nucleoplasm, fibrillar center, GO:0046872, GO:0035312, GO:0035312, GO:0003684, metal ion binding, 5'-3' exodeoxyribonuclease activity, 5'-3' exodeoxyribonuclease activity, damaged DNA binding, GO:0090305, GO:0051301, GO:0036297, GO:0036297, GO:0031848, GO:0007049, GO:0006303, nucleic acid phosphodiester bond hydrolysis, cell division, interstrand cross-link repair, interstrand cross-link repair, protection from non-homologous end joining at telomere, cell cycle, double-strand break repair via nonhomologous end joining, 4 11 18 5 8 31 12 7 19 ENSG00000198925 chr2 219219380 219229717 - ATG9A protein_coding 79065 GO:0055037, GO:0043231, GO:0031902, GO:0016021, GO:0016020, GO:0005802, GO:0005789, GO:0005776, GO:0005770, GO:0005768, GO:0000421, GO:0000407, GO:0000407, recycling endosome, intracellular membrane-bounded organelle, late endosome membrane, integral component of membrane, membrane, trans-Golgi network, endoplasmic reticulum membrane, autophagosome, late endosome, endosome, autophagosome membrane, phagophore assembly site, phagophore assembly site, GO:0005515, protein binding, GO:0044805, GO:0034497, GO:0015031, GO:0000422, GO:0000045, late nucleophagy, protein localization to phagophore assembly site, protein transport, autophagy of mitochondrion, autophagosome assembly, 297 274 398 94 144 116 167 142 150 ENSG00000198929 chr1 162069774 162370475 + NOS1AP protein_coding This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]. 9722 GO:1990454, GO:1902937, GO:0098978, GO:0098978, GO:0048471, GO:0042383, GO:0033017, GO:0031965, GO:0030315, GO:0030018, GO:0005901, GO:0005829, GO:0005739, GO:0005634, L-type voltage-gated calcium channel complex, inward rectifier potassium channel complex, glutamatergic synapse, glutamatergic synapse, perinuclear region of cytoplasm, sarcolemma, sarcoplasmic reticulum membrane, nuclear membrane, T-tubule, Z disc, caveola, cytosol, mitochondrion, nucleus, GO:0050998, GO:0050998, GO:0005515, nitric-oxide synthase binding, nitric-oxide synthase binding, protein binding, GO:2000170, GO:1903762, GO:1902514, GO:1902514, GO:1902261, GO:1901841, GO:1901381, GO:0098974, GO:0098974, GO:0098901, GO:0098901, GO:0060307, GO:0060307, GO:0051000, GO:0050999, GO:0045429, GO:0045428, GO:0010750, GO:0010628, GO:0003062, positive regulation of peptidyl-cysteine S-nitrosylation, positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, positive regulation of delayed rectifier potassium channel activity, regulation of high voltage-gated calcium channel activity, positive regulation of potassium ion transmembrane transport, postsynaptic actin cytoskeleton organization, postsynaptic actin cytoskeleton organization, regulation of cardiac muscle cell action potential, regulation of cardiac muscle cell action potential, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of ventricular cardiac muscle cell membrane repolarization, positive regulation of nitric-oxide synthase activity, regulation of nitric-oxide synthase activity, positive regulation of nitric oxide biosynthetic process, regulation of nitric oxide biosynthetic process, positive regulation of nitric oxide mediated signal transduction, positive regulation of gene expression, regulation of heart rate by chemical signal, 2 1 1 0 0 7 0 1 0 ENSG00000198930 chrX 152727484 152733735 - CSAG1 protein_coding This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 158511 0 0 0 0 0 0 2 0 0 ENSG00000198931 chr16 88809339 88811944 - APRT protein_coding Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 353 GO:0070062, GO:0034774, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005576, extracellular exosome, secretory granule lumen, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, extracellular region, GO:0016208, GO:0016208, GO:0005515, GO:0003999, GO:0002055, AMP binding, AMP binding, protein binding, adenine phosphoribosyltransferase activity, adenine binding, GO:0044209, GO:0044209, GO:0043312, GO:0043101, GO:0032869, GO:0007625, GO:0007595, GO:0006168, GO:0006166, AMP salvage, AMP salvage, neutrophil degranulation, purine-containing compound salvage, cellular response to insulin stimulus, grooming behavior, lactation, adenine salvage, purine ribonucleoside salvage, 53 37 82 127 77 225 123 76 123 ENSG00000198932 chrX 102651366 102659083 + GPRASP1 protein_coding This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]. 9737 GO:0005829, cytosol, GO:0005515, protein binding, GO:1990172, GO:1990172, GO:0008333, G protein-coupled receptor catabolic process, G protein-coupled receptor catabolic process, endosome to lysosome transport, 69 40 107 171 79 167 160 71 94 ENSG00000198933 chr17 47694081 47712050 + TBKBP1 protein_coding TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]. 9755 GO:0005737, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0045087, GO:0016032, GO:0007249, innate immune response, viral process, I-kappaB kinase/NF-kappaB signaling, 514 367 358 235 363 333 358 272 298 ENSG00000198934 chrX 76427724 76431353 + MAGEE1 protein_coding This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to cognitive disability. [provided by RefSeq, Mar 2010]. 57692 GO:0048471, GO:0045211, GO:0030425, GO:0005886, GO:0005634, perinuclear region of cytoplasm, postsynaptic membrane, dendrite, plasma membrane, nucleus, GO:0005515, protein binding, GO:0008150, biological_process, 11 3 9 13 11 3 2 0 4 ENSG00000198937 chr6 37482920 37499922 - CCDC167 protein_coding 154467 GO:0016021, integral component of membrane, GO:0005515, protein binding, 8 5 9 12 12 33 10 10 15 ENSG00000198938 chrM 9207 9990 + MT-CO3 protein_coding 4514 GO:0045277, GO:0016021, GO:0005743, GO:0005739, respiratory chain complex IV, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0015453, GO:0009055, GO:0005515, GO:0004129, oxidoreduction-driven active transmembrane transporter activity, electron transfer activity, protein binding, cytochrome-c oxidase activity, GO:1902600, GO:0009060, GO:0008535, GO:0006123, GO:0006123, proton transmembrane transport, aerobic respiration, respiratory chain complex IV assembly, mitochondrial electron transport, cytochrome c to oxygen, mitochondrial electron transport, cytochrome c to oxygen, 5080 4281 5821 12275 10336 11674 9364 5858 9240 ENSG00000198939 chr5 178895894 178933212 + ZFP2 protein_coding 80108 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2 1 0 1 0 0 1 0 9 ENSG00000198944 chr5 132813587 132816797 + SOWAHA protein_coding 134548 0 0 0 0 0 0 0 0 0 ENSG00000198945 chr6 130013699 130141451 + L3MBTL3 protein_coding This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]. 84456 GO:0005730, GO:0005654, GO:0005634, nucleolus, nucleoplasm, nucleus, GO:0042802, GO:0042393, GO:0008270, GO:0005515, GO:0003682, GO:0003674, identical protein binding, histone binding, zinc ion binding, protein binding, chromatin binding, molecular_function, GO:0045892, GO:0043249, GO:0030851, GO:0030225, GO:0006325, negative regulation of transcription, DNA-templated, erythrocyte maturation, granulocyte differentiation, macrophage differentiation, chromatin organization, 89 76 110 121 78 151 78 76 83 ENSG00000198947 chrX 31097677 33339441 - DMD protein_coding This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]. 1756 GO:0045211, GO:0045202, GO:0045121, GO:0044306, GO:0043034, GO:0042383, GO:0032991, GO:0031527, GO:0030175, GO:0030055, GO:0030018, GO:0016328, GO:0016013, GO:0016010, GO:0016010, GO:0016010, GO:0009986, GO:0005856, GO:0005829, postsynaptic membrane, synapse, membrane raft, neuron projection terminus, costamere, sarcolemma, protein-containing complex, filopodium membrane, filopodium, cell-substrate junction, Z disc, lateral plasma membrane, syntrophin complex, dystrophin-associated glycoprotein complex, dystrophin-associated glycoprotein complex, dystrophin-associated glycoprotein complex, cell surface, cytoskeleton, cytosol, GO:0050998, GO:0017166, GO:0017022, GO:0008307, GO:0008307, GO:0008270, GO:0005515, GO:0005200, GO:0003779, GO:0003779, GO:0002162, nitric-oxide synthase binding, vinculin binding, myosin binding, structural constituent of muscle, structural constituent of muscle, zinc ion binding, protein binding, structural constituent of cytoskeleton, actin binding, actin binding, dystroglycan binding, GO:2000651, GO:1902083, GO:1901385, GO:0086001, GO:0060314, GO:0060048, GO:0048747, GO:0046716, GO:0043043, GO:0035994, GO:0035633, GO:0034622, GO:0034613, GO:0033137, GO:0030049, GO:0014819, GO:0014809, GO:0010881, GO:0010880, GO:0007517, GO:0007010, GO:0002027, positive regulation of sodium ion transmembrane transporter activity, negative regulation of peptidyl-cysteine S-nitrosylation, regulation of voltage-gated calcium channel activity, cardiac muscle cell action potential, regulation of ryanodine-sensitive calcium-release channel activity, cardiac muscle contraction, muscle fiber development, muscle cell cellular homeostasis, peptide biosynthetic process, response to muscle stretch, maintenance of blood-brain barrier, cellular protein-containing complex assembly, cellular protein localization, negative regulation of peptidyl-serine phosphorylation, muscle filament sliding, regulation of skeletal muscle contraction, regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, muscle organ development, cytoskeleton organization, regulation of heart rate, 0 1 0 0 0 0 1 0 0 ENSG00000198948 chr4 169986597 170033031 - MFAP3L protein_coding 9848 GO:0030054, GO:0016021, GO:0005886, GO:0005886, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cell junction, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, 18 12 0 13 24 16 17 6 17 ENSG00000198951 chr22 42058354 42070842 - NAGA protein_coding NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]. 4668 GO:0070062, GO:0005764, GO:0005737, extracellular exosome, lysosome, cytoplasm, GO:0042803, GO:0008456, GO:0004557, protein homodimerization activity, alpha-N-acetylgalactosaminidase activity, alpha-galactosidase activity, GO:0046477, GO:0019377, GO:0016139, GO:0016052, GO:0009311, glycosylceramide catabolic process, glycolipid catabolic process, glycoside catabolic process, carbohydrate catabolic process, oligosaccharide metabolic process, 45 111 99 56 70 81 59 73 95 ENSG00000198952 chr1 156249224 156282825 - SMG5 protein_coding SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]. 23381 GO:0005829, GO:0005737, GO:0005697, GO:0005634, cytosol, cytoplasm, telomerase holoenzyme complex, nucleus, GO:0070034, GO:0070034, GO:0051721, GO:0042826, GO:0042162, GO:0042162, GO:0031625, GO:0005515, telomerase RNA binding, telomerase RNA binding, protein phosphatase 2A binding, histone deacetylase binding, telomeric DNA binding, telomeric DNA binding, ubiquitin protein ligase binding, protein binding, GO:0035303, GO:0032210, GO:0032204, GO:0006406, GO:0000184, GO:0000184, regulation of dephosphorylation, regulation of telomere maintenance via telomerase, regulation of telomere maintenance, mRNA export from nucleus, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 597 679 667 432 594 499 481 465 457 ENSG00000198954 chr10 68988721 69043544 + KIF1BP protein_coding This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]. 26128 GO:0005856, GO:0005739, cytoskeleton, mitochondrion, GO:0019894, GO:0005515, kinesin binding, protein binding, GO:0030154, GO:0007399, GO:0006839, cell differentiation, nervous system development, mitochondrial transport, 45 43 63 45 57 63 43 53 51 ENSG00000198959 chr20 38127387 38166578 - TGM2 protein_coding Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7052 GO:0070062, GO:0062023, GO:0062023, GO:0031226, GO:0031226, GO:0005925, GO:0005886, GO:0005829, GO:0005783, GO:0005739, GO:0005739, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, intrinsic component of plasma membrane, intrinsic component of plasma membrane, focal adhesion, plasma membrane, cytosol, endoplasmic reticulum, mitochondrion, mitochondrion, GO:0046872, GO:0042802, GO:0019904, GO:0005525, GO:0005515, GO:0003810, GO:0003810, GO:0003810, metal ion binding, identical protein binding, protein domain specific binding, GTP binding, protein binding, protein-glutamine gamma-glutamyltransferase activity, protein-glutamine gamma-glutamyltransferase activity, protein-glutamine gamma-glutamyltransferase activity, GO:0060662, GO:0060445, GO:0051561, GO:0051482, GO:0050729, GO:0048661, GO:0045785, GO:0043277, GO:0043123, GO:0043065, GO:0032471, GO:0018153, GO:0018149, GO:0018149, GO:0001974, salivary gland cavitation, branching involved in salivary gland morphogenesis, positive regulation of mitochondrial calcium ion concentration, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, positive regulation of cell adhesion, apoptotic cell clearance, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, negative regulation of endoplasmic reticulum calcium ion concentration, isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine, peptide cross-linking, peptide cross-linking, blood vessel remodeling, 9 5 9 14 6 7 1 1 0 ENSG00000198960 chrX 101615118 101618001 - ARMCX6 protein_coding 54470 GO:0016021, GO:0005741, GO:0005739, integral component of membrane, mitochondrial outer membrane, mitochondrion, 15 19 20 43 51 36 41 36 29 ENSG00000198961 chr5 109334709 109409994 - PJA2 protein_coding 9867 GO:0045111, GO:0014069, GO:0005886, GO:0005789, GO:0005737, GO:0000139, intermediate filament cytoskeleton, postsynaptic density, plasma membrane, endoplasmic reticulum membrane, cytoplasm, Golgi membrane, GO:0046872, GO:0034237, GO:0034236, GO:0005515, GO:0004842, metal ion binding, protein kinase A regulatory subunit binding, protein kinase A catalytic subunit binding, protein binding, ubiquitin-protein transferase activity, GO:1900745, GO:0046330, GO:0045087, GO:0043030, GO:0035329, GO:0034137, GO:0016567, GO:0016567, GO:0016567, GO:0010738, GO:0010738, GO:0007616, GO:0006954, positive regulation of p38MAPK cascade, positive regulation of JNK cascade, innate immune response, regulation of macrophage activation, hippo signaling, positive regulation of toll-like receptor 2 signaling pathway, protein ubiquitination, protein ubiquitination, protein ubiquitination, regulation of protein kinase A signaling, regulation of protein kinase A signaling, long-term memory, inflammatory response, 4592 4094 5339 775 1715 1212 1261 1699 1276 ENSG00000198963 chr9 74497365 74693177 + RORB protein_coding The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]. 6096 GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0008502, GO:0008270, GO:0008134, GO:0005515, GO:0004879, GO:0004879, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, melatonin receptor activity, zinc ion binding, transcription factor binding, protein binding, nuclear receptor activity, nuclear receptor activity, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071300, GO:0060041, GO:0048511, GO:0046549, GO:0046548, GO:0045944, GO:0045893, GO:0045892, GO:0045668, GO:0042752, GO:0042462, GO:0035881, GO:0030522, GO:0007601, GO:0007186, GO:0006367, GO:0006357, GO:0006355, cellular response to retinoic acid, retina development in camera-type eye, rhythmic process, retinal cone cell development, retinal rod cell development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, regulation of circadian rhythm, eye photoreceptor cell development, amacrine cell differentiation, intracellular receptor signaling pathway, visual perception, G protein-coupled receptor signaling pathway, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 2 3 0 0 0 ENSG00000198964 chr10 50305586 50625163 - SGMS1 protein_coding The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]. 259230 GO:0030176, GO:0030173, GO:0030173, GO:0016020, GO:0005887, GO:0005886, GO:0005783, GO:0005634, GO:0000139, GO:0000138, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, integral component of Golgi membrane, membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, nucleus, Golgi membrane, Golgi trans cisterna, GO:0047493, GO:0047493, GO:0033188, GO:0033188, GO:0033188, GO:0033188, GO:0016301, GO:0002950, ceramide cholinephosphotransferase activity, ceramide cholinephosphotransferase activity, sphingomyelin synthase activity, sphingomyelin synthase activity, sphingomyelin synthase activity, sphingomyelin synthase activity, kinase activity, ceramide phosphoethanolamine synthase activity, GO:2001242, GO:0071356, GO:0071222, GO:0046513, GO:0046513, GO:0030148, GO:0016310, GO:0010628, GO:0006954, GO:0006915, GO:0006686, GO:0006686, regulation of intrinsic apoptotic signaling pathway, cellular response to tumor necrosis factor, cellular response to lipopolysaccharide, ceramide biosynthetic process, ceramide biosynthetic process, sphingolipid biosynthetic process, phosphorylation, positive regulation of gene expression, inflammatory response, apoptotic process, sphingomyelin biosynthetic process, sphingomyelin biosynthetic process, 271 191 295 144 215 291 181 174 204 ENSG00000198965 chr1 158472220 158480936 + OR10R2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 343406 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000198967 chr1 158605268 158612514 + OR10Z1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 128368 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000198972 chr19 51692786 51692864 + MIRLET7E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406887 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904995, GO:1904893, GO:0070104, GO:0043433, GO:0042532, GO:0035278, GO:0035195, GO:0035195, GO:0032715, negative regulation of leukocyte adhesion to vascular endothelial cell, negative regulation of receptor signaling pathway via STAT, negative regulation of interleukin-6-mediated signaling pathway, negative regulation of DNA-binding transcription factor activity, negative regulation of tyrosine phosphorylation of STAT protein, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-6 production, 0 0 0 0 1 0 0 0 0 ENSG00000198973 chr2 219001645 219001708 - MIR375 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494324 GO:0005615, extracellular space, GO:0000993, RNA polymerase II complex binding, GO:2000353, GO:1903671, GO:0051898, GO:0035195, positive regulation of endothelial cell apoptotic process, negative regulation of sprouting angiogenesis, negative regulation of protein kinase B signaling, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000198974 chr1 40754355 40754446 + MIR30E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407034 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000352, GO:1905563, GO:1903671, GO:0140193, GO:0055118, GO:0035195, GO:0035195, GO:0010667, negative regulation of endothelial cell apoptotic process, negative regulation of vascular endothelial cell proliferation, negative regulation of sprouting angiogenesis, regulation of adenylate cyclase-inhibiting adrenergic receptor signaling pathway involved in heart process, negative regulation of cardiac muscle contraction, gene silencing by miRNA, gene silencing by miRNA, negative regulation of cardiac muscle cell apoptotic process, 0 1 1 0 0 0 0 2 0 ENSG00000198975 chr11 122146522 122146593 - MIRLET7A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406882 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000198976 chr1 1169005 1169087 + MIR429 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 554210 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000198982 chr14 101025017 101025077 + MIR380 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494329 0 0 0 0 0 0 0 0 0 ENSG00000198983 chr5 55170532 55170622 - MIR449A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 554213 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2001235, GO:0051898, GO:0035195, GO:0035195, GO:0030336, GO:0014067, GO:0010629, GO:0008285, positive regulation of apoptotic signaling pathway, negative regulation of protein kinase B signaling, gene silencing by miRNA, gene silencing by miRNA, negative regulation of cell migration, negative regulation of phosphatidylinositol 3-kinase signaling, negative regulation of gene expression, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000198984 chr14 100307859 100307956 + MIR345 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442910 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035278, GO:0035195, miRNA mediated inhibition of translation, gene silencing by miRNA, 0 0 0 0 1 0 0 0 0 ENSG00000198987 chr3 160404745 160404825 + MIR16-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406951 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000198995 chr5 180015303 180015397 - MIR340 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442908 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 1 0 5 2 2 0 0 ENSG00000198997 chr10 89592747 89592827 - MIR107 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406901 GO:1903561, GO:0043025, GO:0005615, extracellular vesicle, neuronal cell body, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1904046, GO:1902992, GO:0070301, GO:0060545, GO:0046627, GO:0046325, GO:0045722, GO:0045599, GO:0035278, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032869, negative regulation of vascular endothelial growth factor production, negative regulation of amyloid precursor protein catabolic process, cellular response to hydrogen peroxide, positive regulation of necroptotic process, negative regulation of insulin receptor signaling pathway, negative regulation of glucose import, positive regulation of gluconeogenesis, negative regulation of fat cell differentiation, miRNA mediated inhibition of translation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, cellular response to insulin stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000199001 chrX 114823454 114823564 + MIR448 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 554212 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904754, GO:1904707, GO:0035195, GO:0035195, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199005 chr14 100911139 100911213 + MIR370 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442915 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199012 chr14 101065447 101065537 + MIR412 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574433 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199015 chr14 101062050 101062118 + MIR377 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494326 GO:1903671, GO:0035195, negative regulation of sprouting angiogenesis, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199017 chr20 62554306 62554376 + MIR1-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406904 GO:0005615, extracellular space, GO:1903231, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, RNA polymerase II complex binding, GO:2001016, GO:2000818, GO:2000727, GO:2000724, GO:1905913, GO:1905904, GO:1905461, GO:1905032, GO:1904879, GO:1904706, GO:1904706, GO:1903780, GO:1903762, GO:1903672, GO:1902260, GO:0090677, GO:0090090, GO:0086094, GO:0060980, GO:0060452, GO:0060412, GO:0060373, GO:0060298, GO:0060044, GO:0045602, GO:0043569, GO:0043433, GO:0040037, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0010881, GO:0010880, GO:0010831, GO:0010614, GO:0010614, GO:0010460, GO:0010455, GO:0001934, positive regulation of skeletal muscle cell differentiation, negative regulation of myoblast proliferation, positive regulation of cardiac muscle cell differentiation, positive regulation of cardiac vascular smooth muscle cell differentiation, negative regulation of calcium ion export across plasma membrane, positive regulation of mesoderm formation, positive regulation of vascular associated smooth muscle cell apoptotic process, negative regulation of membrane repolarization during cardiac muscle cell action potential, positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of cardiac conduction, positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, positive regulation of sprouting angiogenesis, negative regulation of delayed rectifier potassium channel activity, reversible differentiation, negative regulation of canonical Wnt signaling pathway, positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction, cell migration involved in coronary vasculogenesis, positive regulation of cardiac muscle contraction, ventricular septum morphogenesis, regulation of ventricular cardiac muscle cell membrane depolarization, positive regulation of sarcomere organization, negative regulation of cardiac muscle cell proliferation, negative regulation of endothelial cell differentiation, negative regulation of insulin-like growth factor receptor signaling pathway, negative regulation of DNA-binding transcription factor activity, negative regulation of fibroblast growth factor receptor signaling pathway, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, positive regulation of myotube differentiation, negative regulation of cardiac muscle hypertrophy, negative regulation of cardiac muscle hypertrophy, positive regulation of heart rate, positive regulation of cell fate commitment, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000199020 chr14 101045920 101045994 + MIR381 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494330 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199023 chr7 1022933 1023026 - MIR339 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442907 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1904706, GO:1902430, GO:0044344, GO:0035195, GO:0035195, GO:0010951, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of amyloid-beta formation, cellular response to fibroblast growth factor stimulus, gene silencing by miRNA, gene silencing by miRNA, negative regulation of endopeptidase activity, 1 0 0 0 0 0 0 0 0 ENSG00000199024 chr20 3917494 3917571 + MIR103A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406896 GO:0035195, gene silencing by miRNA, 2 16 18 5 16 12 0 14 19 ENSG00000199025 chr14 101065598 101065667 + MIR369 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442914 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199030 chr21 16539828 16539911 + MIRLET7C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406885 GO:1903561, GO:0070062, GO:0005737, GO:0005634, GO:0005615, extracellular vesicle, extracellular exosome, cytoplasm, nucleus, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904893, GO:0070104, GO:0045944, GO:0035195, GO:0035195, GO:0032717, GO:0032693, negative regulation of receptor signaling pathway via STAT, negative regulation of interleukin-6-mediated signaling pathway, positive regulation of transcription by RNA polymerase II, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, negative regulation of interleukin-10 production, 0 0 0 0 0 0 0 0 0 ENSG00000199031 chr19 53787675 53787741 + MIR371A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442916 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 14 10 10 16 18 19 10 13 14 ENSG00000199032 chr3 49020148 49020234 - MIR425 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494337 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, 0 1 2 6 5 2 3 4 0 ENSG00000199035 chr5 168560896 168560973 - MIR103A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406895 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0070301, GO:0060545, GO:0046627, GO:0046325, GO:0045736, GO:0045722, GO:0045599, GO:0035278, GO:0035278, GO:0035195, GO:0035195, GO:0032869, GO:0010801, GO:0001678, cellular response to hydrogen peroxide, positive regulation of necroptotic process, negative regulation of insulin receptor signaling pathway, negative regulation of glucose import, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of gluconeogenesis, negative regulation of fat cell differentiation, miRNA mediated inhibition of translation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, cellular response to insulin stimulus, negative regulation of peptidyl-threonine phosphorylation, cellular glucose homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000199036 chr6 33207835 33207944 + MIR219A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407002 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0035195, GO:0010977, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of neuron projection development, 0 0 0 0 0 0 0 0 0 ENSG00000199038 chr11 568089 568198 - MIR210 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406992 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2001235, GO:2001234, GO:1905460, GO:1904440, GO:1904233, GO:1904025, GO:1902957, GO:1900037, GO:1900037, GO:0097411, GO:0045766, GO:0045669, GO:0043536, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0035148, GO:0030335, GO:0010977, positive regulation of apoptotic signaling pathway, negative regulation of apoptotic signaling pathway, negative regulation of vascular associated smooth muscle cell apoptotic process, positive regulation of iron ion import across plasma membrane, negative regulation of aconitate hydratase activity, positive regulation of glucose catabolic process to lactate via pyruvate, negative regulation of mitochondrial electron transport, NADH to ubiquinone, regulation of cellular response to hypoxia, regulation of cellular response to hypoxia, hypoxia-inducible factor-1alpha signaling pathway, positive regulation of angiogenesis, positive regulation of osteoblast differentiation, positive regulation of blood vessel endothelial cell migration, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, tube formation, positive regulation of cell migration, negative regulation of neuron projection development, 0 0 0 0 0 0 0 0 0 ENSG00000199043 chr7 130496111 130496204 + MIR335 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The encoded miRNA is dysregulated in a variety of cancers, including breast, colorectal, and prostate cancer. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2017]. 442904 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199047 chr5 149732825 149732890 + MIR378A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494327 GO:0005615, extracellular space, GO:1903231, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, RNA polymerase II complex binding, GO:1904046, GO:1900016, GO:0150128, GO:0045766, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032769, GO:0008285, negative regulation of vascular endothelial growth factor production, negative regulation of cytokine production involved in inflammatory response, negative regulation of interleukin-33 production, positive regulation of angiogenesis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of monooxygenase activity, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000199051 chrX 85903636 85903707 - MIR361 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494323 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1904046, GO:1903588, GO:1902430, GO:0090051, GO:0050727, GO:0043066, GO:0035195, GO:0035195, GO:0032680, GO:0032675, GO:0032651, GO:0016525, negative regulation of vascular endothelial growth factor production, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of amyloid-beta formation, negative regulation of cell migration involved in sprouting angiogenesis, regulation of inflammatory response, negative regulation of apoptotic process, gene silencing by miRNA, gene silencing by miRNA, regulation of tumor necrosis factor production, regulation of interleukin-6 production, regulation of interleukin-1 beta production, negative regulation of angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000199053 chr17 7223297 7223379 - MIR324 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442898 5 10 22 13 30 14 5 12 18 ENSG00000199059 chr1 205448302 205448398 - MIR135B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442891 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905564, GO:1904754, GO:1904707, GO:0043536, GO:0035278, GO:0035195, GO:0035195, positive regulation of vascular endothelial cell proliferation, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of blood vessel endothelial cell migration, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199065 chr9 4850297 4850375 + MIR101-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406894 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199069 chr14 101025732 101025817 + MIR323A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442897 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0042985, GO:0035195, GO:0035195, negative regulation of amyloid precursor protein biosynthetic process, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199072 chr9 94176347 94176433 + MIRLET7F1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406888 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904646, GO:0090050, GO:0051898, GO:0043066, GO:0035195, GO:0035195, GO:0032700, GO:0032007, GO:0030512, cellular response to amyloid-beta, positive regulation of cell migration involved in sprouting angiogenesis, negative regulation of protein kinase B signaling, negative regulation of apoptotic process, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-17 production, negative regulation of TOR signaling, negative regulation of transforming growth factor beta receptor signaling pathway, 1 6 1 12 16 14 18 8 6 ENSG00000199075 chr3 37969404 37969480 + MIR26A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407015 GO:1903561, GO:0005615, GO:0005615, extracellular vesicle, extracellular space, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000134, GO:1905064, GO:1904754, GO:1904707, GO:1903609, GO:1903588, GO:1902807, GO:1900016, GO:0150079, GO:0090370, GO:0090051, GO:0070104, GO:0060371, GO:0051001, GO:0043433, GO:0043409, GO:0038084, GO:0035195, GO:0035195, GO:0032715, GO:0032715, GO:0032700, GO:0032286, GO:0030514, GO:0030336, GO:0010459, GO:0008285, GO:0007179, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular associated smooth muscle cell differentiation, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of inward rectifier potassium channel activity, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell cycle G1/S phase transition, negative regulation of cytokine production involved in inflammatory response, negative regulation of neuroinflammatory response, negative regulation of cholesterol efflux, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of interleukin-6-mediated signaling pathway, regulation of atrial cardiac muscle cell membrane depolarization, negative regulation of nitric-oxide synthase activity, negative regulation of DNA-binding transcription factor activity, negative regulation of MAPK cascade, vascular endothelial growth factor signaling pathway, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-6 production, negative regulation of interleukin-6 production, negative regulation of interleukin-17 production, central nervous system myelin maintenance, negative regulation of BMP signaling pathway, negative regulation of cell migration, negative regulation of heart rate, negative regulation of cell population proliferation, transforming growth factor beta receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000199077 chr11 43581394 43581483 + MIR129-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406918 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199080 chr6 52148923 52149041 + MIR133B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The encoded miRNA is considered a canonical myomiR and is important for normal cardiac and skeletal muscle development. It is additionally important for normal development in non-muscle tissues, and is abnormally expressed in a variety of cancers. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2017]. 442890 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000818, GO:2000134, GO:1905563, GO:0070373, GO:0043537, GO:0043433, GO:0035278, GO:0035195, GO:0035195, GO:0030336, GO:0010976, GO:0010831, GO:0008285, negative regulation of myoblast proliferation, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular endothelial cell proliferation, negative regulation of ERK1 and ERK2 cascade, negative regulation of blood vessel endothelial cell migration, negative regulation of DNA-binding transcription factor activity, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of cell migration, positive regulation of neuron projection development, positive regulation of myotube differentiation, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000199082 chr14 100109655 100109753 + MIR342 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442909 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1903588, GO:1900747, GO:0062000, GO:0051898, GO:0043536, GO:0035195, GO:0035195, GO:0030512, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of vascular endothelial growth factor signaling pathway, positive regulation of cardiac endothelial to mesenchymal transition, negative regulation of protein kinase B signaling, positive regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, negative regulation of transforming growth factor beta receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000199085 chr7 25949919 25949986 - MIR148A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406940 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1905596, GO:0140076, GO:0090370, GO:0055088, GO:0042632, GO:0042632, GO:0035278, GO:0035195, GO:0035195, GO:0010989, GO:0010985, negative regulation of low-density lipoprotein particle receptor binding, negative regulation of lipoprotein transport, negative regulation of cholesterol efflux, lipid homeostasis, cholesterol homeostasis, cholesterol homeostasis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of low-density lipoprotein particle clearance, negative regulation of lipoprotein particle clearance, 0 0 0 0 0 0 0 0 0 ENSG00000199088 chr14 101022066 101022132 + MIR379 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494328 GO:0110119, GO:0070328, GO:0032868, positive regulation of very-low-density lipoprotein particle clearance, triglyceride homeostasis, response to insulin, 0 0 0 0 0 0 0 0 0 ENSG00000199090 chr11 75335092 75335186 - MIR326 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442900 GO:0035195, gene silencing by miRNA, 0 0 0 0 2 1 0 0 0 ENSG00000199092 chr14 101065912 101065991 + MIR410 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574434 GO:0005615, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1903588, GO:0090051, GO:0035195, GO:0035195, GO:0035195, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199094 chr6 71376960 71377031 - MIR30C2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407032 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000134, GO:1901223, GO:0071356, GO:0050728, GO:0035195, GO:0035195, GO:0032088, GO:0030336, GO:0010629, GO:0008285, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of NIK/NF-kappaB signaling, cellular response to tumor necrosis factor, negative regulation of inflammatory response, gene silencing by miRNA, gene silencing by miRNA, negative regulation of NF-kappaB transcription factor activity, negative regulation of cell migration, negative regulation of gene expression, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000199095 chr19 53787890 53787956 + MIR372 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442917 GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1904046, GO:1900087, GO:0035195, GO:0035195, GO:0035195, GO:0008284, negative regulation of vascular endothelial growth factor production, positive regulation of G1/S transition of mitotic cell cycle, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, positive regulation of cell population proliferation, 2 2 8 6 13 13 6 8 11 ENSG00000199102 chr4 112648363 112648430 - MIR302C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442895 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0032717, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, 1 0 1 0 1 0 0 0 2 ENSG00000199104 chr10 86264694 86264788 - MIR346 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442911 GO:0048027, mRNA 5'-UTR binding, GO:1902004, GO:0045975, GO:0042986, GO:0035195, positive regulation of amyloid-beta formation, positive regulation of translation, ncRNA-mediated, positive regulation of amyloid precursor protein biosynthetic process, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199107 chr14 101065300 101065378 + MIR409 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574413 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0061754, GO:0035195, GO:0035195, negative regulation of circulating fibrinogen levels, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199109 chr14 101023325 101023420 + MIR411 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693121 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0032701, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-18 production, 0 0 0 0 0 0 0 0 0 ENSG00000199121 chr2 218402646 218402722 + MIR26B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407017 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2001235, GO:1902949, GO:0071902, GO:0051607, GO:0050687, GO:0045787, GO:0035195, GO:0035195, GO:0032688, GO:0032682, positive regulation of apoptotic signaling pathway, positive regulation of tau-protein kinase activity, positive regulation of protein serine/threonine kinase activity, defense response to virus, negative regulation of defense response to virus, positive regulation of cell cycle, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interferon-beta production, negative regulation of chemokine production, 1 2 1 0 2 0 0 0 0 ENSG00000199122 chr12 54337216 54337314 + MIR148B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442892 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199127 chr8 14853438 14853510 - MIR383 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494332 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0032700, GO:0032700, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-17 production, negative regulation of interleukin-17 production, 0 0 0 0 0 0 0 0 0 ENSG00000199130 chr16 14309285 14309371 + MIR365A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126355 GO:1903561, extracellular vesicle, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035278, GO:0035195, GO:0035195, GO:0032715, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-6 production, 0 0 0 0 0 0 0 0 0 ENSG00000199132 chrX 134540341 134540431 - MIR450A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 554214 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199133 chr9 94178834 94178920 + MIRLET7D miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406886 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:0035195, gene silencing by miRNA, 10 14 10 69 84 76 59 55 38 ENSG00000199135 chr1 65058434 65058508 - MIR101-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406893 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000353, GO:1903589, GO:0090050, GO:0070555, GO:0060546, GO:0060354, GO:0060354, GO:0050821, GO:0043537, GO:0043433, GO:0042985, GO:0035278, GO:0035195, GO:0035195, GO:0032720, GO:0032715, GO:0032691, GO:0031397, GO:0010629, GO:0010629, GO:0010628, positive regulation of endothelial cell apoptotic process, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, response to interleukin-1, negative regulation of necroptotic process, negative regulation of cell adhesion molecule production, negative regulation of cell adhesion molecule production, protein stabilization, negative regulation of blood vessel endothelial cell migration, negative regulation of DNA-binding transcription factor activity, negative regulation of amyloid precursor protein biosynthetic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, negative regulation of protein ubiquitination, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, 2 1 1 0 0 0 0 2 0 ENSG00000199143 chr19 53788705 53788773 + MIR373 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442918 GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1904046, GO:0035195, GO:0035195, negative regulation of vascular endothelial growth factor production, gene silencing by miRNA, gene silencing by miRNA, 3 3 5 4 7 7 8 6 2 ENSG00000199145 chr4 112648004 112648071 - MIR302D miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442896 GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1904046, GO:0035195, GO:0035195, GO:0035195, GO:0032717, negative regulation of vascular endothelial growth factor production, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, 4 0 0 0 0 0 0 0 0 ENSG00000199150 chr3 52268278 52268361 - MIRLET7G miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406890 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904995, GO:0071333, GO:0060394, GO:0050728, GO:0045766, GO:0035195, GO:0035195, GO:0030512, GO:0030336, negative regulation of leukocyte adhesion to vascular endothelial cell, cellular response to glucose stimulus, negative regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of inflammatory response, positive regulation of angiogenesis, gene silencing by miRNA, gene silencing by miRNA, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell migration, 5 3 3 1 2 0 5 5 5 ENSG00000199151 chr14 100874493 100874585 + MIR337 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442905 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199153 chr8 134804876 134804945 - MIR30D miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407033 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199156 chr15 63870930 63871019 - MIR422A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494334 GO:1903561, extracellular vesicle, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199157 chr14 23388596 23388666 - MIR208A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406990 GO:0070062, extracellular exosome, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905027, GO:1904707, GO:1903779, GO:1903244, GO:1900087, GO:0070328, GO:0061051, GO:0045822, GO:0045668, GO:0042632, GO:0035278, GO:0035195, GO:0035195, GO:0030502, GO:0030335, GO:0010455, GO:0008284, GO:0008284, GO:0002155, regulation of membrane depolarization during AV node cell action potential, positive regulation of vascular associated smooth muscle cell proliferation, regulation of cardiac conduction, positive regulation of cardiac muscle hypertrophy in response to stress, positive regulation of G1/S transition of mitotic cell cycle, triglyceride homeostasis, positive regulation of cell growth involved in cardiac muscle cell development, negative regulation of heart contraction, negative regulation of osteoblast differentiation, cholesterol homeostasis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of bone mineralization, positive regulation of cell migration, positive regulation of cell fate commitment, positive regulation of cell population proliferation, positive regulation of cell population proliferation, regulation of thyroid hormone mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000199158 chr7 129774692 129774769 - MIR96 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407053 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904706, GO:0071397, GO:0045723, GO:0045542, GO:0035278, GO:0035195, GO:0035195, negative regulation of vascular associated smooth muscle cell proliferation, cellular response to cholesterol, positive regulation of fatty acid biosynthetic process, positive regulation of cholesterol biosynthetic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199161 chr9 136670602 136670686 + MIR126 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406913 GO:1903561, GO:0005615, GO:0005615, extracellular vesicle, extracellular space, extracellular space, GO:1903231, GO:1903231, GO:1903231, GO:0003730, GO:0003730, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, mRNA 3'-UTR binding, RNA polymerase II complex binding, GO:2000352, GO:1905564, GO:1905563, GO:1904018, GO:1903672, GO:1903672, GO:1903589, GO:1903589, GO:0090050, GO:0090050, GO:0071499, GO:0071456, GO:0070374, GO:0051897, GO:0051897, GO:0050729, GO:0050728, GO:0045861, GO:0045766, GO:0045766, GO:0045747, GO:0043536, GO:0043410, GO:0043410, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0030336, GO:0014068, GO:0014068, negative regulation of endothelial cell apoptotic process, positive regulation of vascular endothelial cell proliferation, negative regulation of vascular endothelial cell proliferation, positive regulation of vasculature development, positive regulation of sprouting angiogenesis, positive regulation of sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, cellular response to laminar fluid shear stress, cellular response to hypoxia, positive regulation of ERK1 and ERK2 cascade, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of proteolysis, positive regulation of angiogenesis, positive regulation of angiogenesis, positive regulation of Notch signaling pathway, positive regulation of blood vessel endothelial cell migration, positive regulation of MAPK cascade, positive regulation of MAPK cascade, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, 0 0 0 0 0 0 0 0 0 ENSG00000199165 chr9 94175957 94176036 + MIRLET7A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406881 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0098806, GO:0070104, GO:0035278, GO:0035195, GO:0035195, deadenylation involved in gene silencing by miRNA, negative regulation of interleukin-6-mediated signaling pathway, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, 5 1 2 21 29 27 25 11 3 ENSG00000199168 chrX 74287286 74287357 - MIR374A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442919 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0060354, GO:0035195, GO:0035195, negative regulation of cell adhesion molecule production, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 2 0 0 0 ENSG00000199169 chr4 112647874 112647941 - MIR367 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442912 GO:0035195, gene silencing by miRNA, 1 2 0 0 0 0 0 0 1 ENSG00000199172 chr12 95308420 95308513 + MIR331 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442903 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199177 chr9 21512115 21512185 - MIR31 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407035 GO:1990742, GO:0016442, GO:0005615, microvesicle, RISC complex, extracellular space, GO:1990715, GO:1903231, GO:0005515, GO:0003730, mRNA CDS binding, mRNA binding involved in posttranscriptional gene silencing, protein binding, mRNA 3'-UTR binding, GO:1905907, GO:1904995, GO:1903672, GO:0150159, GO:0090050, GO:0071356, GO:0050728, GO:0045766, GO:0043536, GO:0042985, GO:0035278, GO:0035195, negative regulation of amyloid fibril formation, negative regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of sprouting angiogenesis, negative regulation of interleukin-34 production, positive regulation of cell migration involved in sprouting angiogenesis, cellular response to tumor necrosis factor, negative regulation of inflammatory response, positive regulation of angiogenesis, positive regulation of blood vessel endothelial cell migration, negative regulation of amyloid precursor protein biosynthetic process, miRNA mediated inhibition of translation, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000199179 chr12 62603686 62603769 + MIRLET7I miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406891 GO:1903561, GO:0005737, GO:0005634, GO:0005615, extracellular vesicle, cytoplasm, nucleus, extracellular space, GO:1903231, GO:0098847, GO:0003730, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, sequence-specific single stranded DNA binding, mRNA 3'-UTR binding, RNA polymerase II complex binding, GO:0045944, GO:0045899, GO:0042832, GO:0035278, GO:0035195, GO:0035195, GO:0010629, positive regulation of transcription by RNA polymerase II, positive regulation of RNA polymerase II transcription preinitiation complex assembly, defense response to protozoan, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of gene expression, 0 2 0 0 3 0 5 4 11 ENSG00000199196 chr13 34100711 34100838 - RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199197 chr18 1323794 1324085 - RN7SKP72 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199200 chr10 34201979 34202074 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199201 chr10 73192223 73192325 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199202 chr9 95905005 95905141 + RNA5SP289 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199203 chr2 210265963 210266074 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199204 chr18 34001698 34001799 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199212 chr8 54330687 54330895 + RNU105C snoRNA 26766 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199217 chr11 119656311 119656416 + RNU6-1123P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199218 chr20 53097652 53097984 + RN7SKP184 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199219 chr5 173362134 173362240 - RNU6-500P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199220 chr12 114657949 114658062 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199222 chr10 21481716 21481817 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199223 chr19 6572956 6573057 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199224 chr7 115833273 115833373 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199226 chrX 46517766 46517868 + RNU6-50P snRNA 7 1 5 0 0 0 0 2 0 ENSG00000199231 chr7 63175940 63176019 - RF00494 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199237 chr12 49593104 49593213 + RNU6-834P snRNA 0 0 2 0 0 1 0 0 0 ENSG00000199240 chr1 43196417 43196536 + RNA5SP46 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199241 chr1 240698320 240698429 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199245 chr12 88430442 88430550 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199246 chr6 153681447 153681553 + RNU6-896P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199248 chr22 31479383 31479489 - RNU6-28P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199251 chr2 207680533 207680639 - RNU6-664P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199260 chr11 129202966 129203070 + RNU6-874P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199263 chr16 68474553 68474664 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199266 chr20 38449370 38449503 + SNORA60 snoRNA 0 0 1 0 0 0 0 0 0 ENSG00000199270 chr1 228634871 228634989 - RNA5S12 rRNA 100169763 0 0 0 0 0 0 0 0 0 ENSG00000199272 chr18 6454962 6455068 + RNU6-349P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199273 chr7 40128121 40128232 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199276 chr13 37854852 37854970 - RNA5SP26 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199279 chr5 62443176 62443282 + RNU6-661P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199282 chr13 72586680 72586810 + RF00411 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199283 chr7 140241870 140242032 + RNU1-58P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199285 chr14 38987281 38987383 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199286 chr3 96608814 96608917 - RNU6-1094P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199289 chr6 26519351 26519458 - RNU6-502P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199290 chr6 29750371 29750472 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199291 chr14 31258608 31258709 - RF00019 misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000199293 chr17 38852863 38852994 - SNORA21 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199295 chr2 83657735 83657842 + RNU6-1312P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199299 chr16 75861048 75861157 - RNA5SP430 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199301 chr16 71666091 71666197 + RNU6-208P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199303 chr6 99642237 99642347 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199306 chr3 197894507 197894613 + RNU6-858P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199308 chr19 54868939 54869045 - RNU6-222P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199311 chr15 25232387 25232468 + SNORD115-34 snoRNA 100033808 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199313 chr9 124887410 124887549 - RNU4-82P snRNA 1 4 0 1 6 0 3 1 0 ENSG00000199315 chr11 97657464 97657582 + RNA5SP347 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199318 chr1 87453240 87453373 - RNA5SP52 rRNA_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000199319 chr3 142673597 142673904 + RN7SKP25 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199321 chr10 126779702 126779774 - RF00271 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199322 chr5 55777469 55777587 + RNA5SP183 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199325 chr11 66614964 66615090 - RNU4-39P snRNA 0 0 0 0 0 2 0 1 0 ENSG00000199326 chr4 88226729 88226829 + RNU6-1298P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199327 chr3 125119097 125119200 - RNU6-230P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199331 chr9 109042386 109042487 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199332 chr6 31402152 31402250 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199334 chr1 228632631 228632749 - RNA5S11 rRNA 100169762 0 0 0 0 0 0 0 0 0 ENSG00000199335 chr4 3044101 3044207 + RNU6-204P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199337 chr1 228614750 228614868 - RNA5S3 rRNA 100169754 0 0 0 0 0 0 0 0 0 ENSG00000199347 chr1 11908152 11908271 + RNU5E-1 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199348 chr2 168606390 168606496 - RNU6-766P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199349 chr1 206747980 206748092 - RF00019 misc_RNA 0 2 2 17 9 39 9 2 23 ENSG00000199350 chr16 84039918 84040033 - RNA5SP432 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199352 chr1 228610268 228610386 - RNA5S1 rRNA 100169751 GO:0005840, ribosome, GO:0003735, structural constituent of ribosome, 0 0 0 0 0 0 0 0 0 ENSG00000199354 chr8 90511128 90511240 + RNA5SP273 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199357 chr18 23456371 23456467 + RF00019 misc_RNA 1 0 0 0 2 0 5 1 0 ENSG00000199360 chr6 110856417 110856522 + RNU6-1115P snRNA 0 0 0 0 1 0 0 1 0 ENSG00000199361 chr5 40269558 40269719 + RNU1-150P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199362 chr11 75837544 75837645 - RF00019 misc_RNA 0 0 0 0 0 2 2 0 0 ENSG00000199363 chr3 183453814 183453944 + RF00092 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199364 chr10 110761142 110761242 + RNA5SP327 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199366 chr18 23582016 23582121 - RF00019 misc_RNA 0 0 1 2 0 0 4 1 3 ENSG00000199368 chr8 11392411 11392517 - RNU6-1084P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199370 chr7 148389645 148389859 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199373 chr18 32176050 32176168 - RNA5SP453 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199377 chr1 44721786 44721902 - RNU5F-1 snRNA 26828 GO:0046540, GO:0005682, U4/U6 x U5 tri-snRNP complex, U5 snRNP, GO:0000353, GO:0000244, formation of quadruple SL/U4/U5/U6 snRNP, spliceosomal tri-snRNP complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000199378 chr5 100021804 100021906 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199381 chr13 72881108 72881214 - RNU6-79P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199385 chr1 44390722 44390823 + RNU6-369P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199390 chr14 100963054 100963130 + SNORD114-7 snoRNA 767583 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199392 chr18 77431563 77431689 - RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199394 chr12 48892130 48892228 - RNU6-600P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199395 chr2 56235217 56235330 - RNA5SP93 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199396 chr1 228619232 228619350 - RNA5S5 rRNA 100169756 0 0 0 0 0 0 0 0 0 ENSG00000199398 chr5 160008445 160008546 + RF00019 misc_RNA 0 1 0 5 4 0 0 1 3 ENSG00000199400 chr2 230058229 230058324 - RNY4P19 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199402 chr10 28874393 28874507 - RNA5SP308 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199404 chr7 152592973 152593091 - RNA5SP250 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000199405 chr8 55902723 55902855 - SNORA1B snoRNA 109617001 GO:0005730, nucleolus, GO:0006396, RNA processing, 5 3 12 6 3 10 1 3 0 ENSG00000199407 chr10 13727796 13727916 + RNA5SP301 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199409 chr5 150098406 150098506 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199410 chrX 16912215 16912317 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199411 chr9 137094345 137094430 + RF00153 snoRNA 0 0 0 0 0 0 1 0 0 ENSG00000199415 chr12 104125236 104125356 + RNA5SP370 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199420 chr4 15093767 15094094 - RN7SKP170 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199422 chrX 53462209 53462310 + VTRNA3-1P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199424 chrX 136571705 136571815 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199426 chr17 58666537 58666697 - RNU1-108P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199436 chr14 21392150 21392253 - SNORD9 snoRNA 692053 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 1 0 0 1 0 ENSG00000199440 chr14 77821030 77821142 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199442 chr1 247997000 247997096 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199444 chr19 12088245 12088346 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199446 chr10 63110139 63110246 + RNU6-543P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199448 chr16 46556089 46556191 - RNU6-845P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199450 chr8 116022686 116022779 - RNA5SP276 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199453 chr15 25191416 25191497 + SNORD115-12 snoRNA 100033449 0 0 0 0 0 0 0 0 0 ENSG00000199454 chr14 78177803 78177921 - RNA5SP388 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199455 chr5 130114409 130114510 + RNA5SP191 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199458 chr6 121453981 121454121 - RNU4-35P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199459 chr1 85435175 85435284 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199460 chr2 69182877 69182983 + RNU6-1216P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199461 chr14 20679411 20679512 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199466 chr10 124766196 124766297 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199468 chr5 156814130 156814234 + RNU6-556P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199469 chr3 72576691 72576854 + RNU1-62P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199470 chr7 12700758 12700889 - RF00264 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199471 chr1 202914880 202914980 - RF00019 misc_RNA 0 0 3 0 0 0 0 0 0 ENSG00000199472 chr14 73906316 73906427 - RF00019 misc_RNA 0 0 1 3 0 0 0 0 0 ENSG00000199473 chr7 17373201 17373326 - RF00092 snoRNA 0 2 0 0 0 0 0 0 0 ENSG00000199474 chr16 12842487 12842610 - RF00443 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199475 chr7 97598933 97599260 - RN7SKP104 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199476 chr3 48288587 48288694 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199477 chr13 45337480 45337609 - SNORA31 snoRNA 677814 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 2 0 58 82 34 56 33 45 ENSG00000199480 chr14 106636672 106636786 + RNA5SP389 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199482 chr16 10496272 10496374 + RNU6-633P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199483 chr9 83596444 83596584 - RNU4-15P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199487 chr5 41963868 41963969 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199488 chr3 170994870 170995033 - RNU1-70P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199489 chr15 25215541 25215622 + SNORD115-25 snoRNA 100033801 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199490 chr20 49920597 49920694 - RF00019 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000199492 chr17 49966075 49966176 - RNU6-1313P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199497 chr20 31901254 31901426 + RNU1-94P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199506 chr12 95792529 95792635 - RNU6-247P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199508 chr2 164858432 164858546 + RNA5SP110 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199509 chr20 21138956 21139074 - RNA5SP477 rRNA_pseudogene 0 1 1 1 0 0 0 2 0 ENSG00000199512 chr15 59341314 59341417 - RNU6-212P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199514 chr3 38303773 38303879 - RNU6-235P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199515 chr22 41065554 41065646 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199516 chr7 129954693 129954794 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199520 chr3 77092057 77092163 + RNU6-386P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199523 chr6 165409562 165409676 + RNA5SP226 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199525 chr9 112252258 112252378 + RNA5SP295 rRNA_pseudogene 0 0 0 0 0 1 0 0 3 ENSG00000199529 chr4 101723876 101723980 + RNU6-462P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199530 chr4 82944738 82944845 - RF00019 misc_RNA 5 3 8 0 3 0 2 1 2 ENSG00000199535 chr10 24640166 24640284 + RNA5SP305 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199536 chr3 170149845 170149951 + RNU6-315P snRNA 0 1 0 0 3 0 0 0 0 ENSG00000199540 chr5 144087 144197 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199545 chr5 139299852 139299968 + RNA5SP195 rRNA_pseudogene 2 4 0 0 2 6 1 0 1 ENSG00000199546 chr3 49270132 49270239 + RF00019 misc_RNA 48 47 43 90 134 125 75 79 69 ENSG00000199550 chr11 2372638 2372750 + RF00019 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000199551 chr12 12226674 12226777 + RNU6-545P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199552 chr5 40654963 40655094 + RF00092 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199556 chr12 45117771 45117888 + RNA5SP361 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199562 chr1 10298966 10299072 + RNU6-37P snRNA 2 3 1 0 4 6 0 5 2 ENSG00000199564 chrX 41292798 41292916 + RNA5SP502 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199565 chr1 153726252 153726353 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199566 chr12 47346166 47346297 - RF00264 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199567 chrX 86019608 86019715 + RF00019 misc_RNA 0 0 0 0 1 0 0 1 0 ENSG00000199568 chr15 65296051 65296166 + RNU5A-1 snRNA 26831 GO:0046540, GO:0005682, U4/U6 x U5 tri-snRNP complex, U5 snRNP, GO:0000353, GO:0000244, formation of quadruple SL/U4/U5/U6 snRNP, spliceosomal tri-snRNP complex assembly, 0 3 5 0 0 11 0 3 9 ENSG00000199570 chr20 14352320 14352425 + RNU6-228P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199571 chr12 39819750 39819883 - RF00414 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199572 chr4 190015138 190015255 + RNA5SP174 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199574 chr15 66501250 66501318 - SNORD18C snoRNA 595100 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199575 chr14 100949833 100949904 + SNORD114-1 snoRNA Small nucleolar RNAs (snoRNAs), like SNORD114-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD114-1 is 1 of 31 tandem SNORD114 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]. 767577 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199577 chr3 20268965 20269070 - RNU6-822P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199580 chr15 74983274 74983376 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199584 chr12 127619336 127619447 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199585 chr2 211535653 211535769 + RNA5SP119 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199591 chr3 47931808 47931914 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199592 chr10 77587049 77587159 + RNA5SP321 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199593 chr14 100972103 100972177 + SNORD114-14 snoRNA 767592 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199594 chr3 37140327 37140430 + RNU6-1301P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000199595 chr1 161699506 161699607 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199598 chr21 43919795 43919901 - RNU6-859P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199601 chrX 75202703 75202809 + RNU6-562P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199603 chr2 38147415 38147521 + RNU6-951P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000199605 chr13 52400004 52400099 + RNY4P24 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199609 chr3 14394648 14394757 + RNA5SP124 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199620 chr8 26136880 26136998 + RNA5SP258 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199622 chrX 13596236 13596548 + RN7SKP20 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199626 chr2 187270698 187270804 - RNU6-989P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199627 chr7 131054886 131054992 - RNU6-1010P snRNA 0 1 1 4 4 0 0 4 3 ENSG00000199629 chr7 53366058 53366209 + RNU1-14P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199630 chr6 89841329 89841424 + RF00019 misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000199631 chr19 49490615 49490699 + SNORD33 snoRNA 26818 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199633 chr15 78091172 78091297 - RF00092 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199634 chr4 158395394 158395534 + RNU4-79P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199635 chr9 21160235 21160336 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199636 chr18 24429505 24429609 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199638 chr10 68461407 68461525 + RNA5SP319 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199640 chr8 49330210 49330547 + RN7SKP294 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199643 chr5 91270727 91270867 + RNU4-90P snRNA 7 7 3 2 7 10 3 3 0 ENSG00000199645 chr5 74779309 74779413 + RNU6-1330P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199646 chr7 138876359 138876465 - RNU6-1272P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199652 chr8 135742343 135742495 - RNU1-35P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199664 chr10 77776951 77777055 - RNU6-1266P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199666 chr1 90657750 90657964 + SNORD3G snoRNA 109616984 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199667 chr8 100185138 100185239 + RF00019 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000199668 chr16 11315067 11315178 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199672 chr1 229535064 229535189 - RNU4-21P snRNA 0 0 0 0 0 0 0 0 6 ENSG00000199673 chr15 66502812 66502910 - SNORD16 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199674 chr17 16137768 16137872 - RNU6-862P snRNA 0 0 0 0 0 4 0 0 0 ENSG00000199676 chr20 35853252 35853364 - RF00019 misc_RNA 0 0 6 1 1 0 6 0 1 ENSG00000199677 chr5 132993099 132993200 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199683 chr20 37975156 37975481 - RN7SKP185 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199687 chr2 85728194 85728337 - RNU1-38P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199691 chr20 38761528 38761842 + RN7SKP173 misc_RNA 0 0 0 0 2 2 2 0 3 ENSG00000199695 chr22 31222745 31222853 - RNU6-1128P snRNA 13 11 13 5 17 51 26 7 37 ENSG00000199697 chr17 62683905 62684010 + RNU6-446P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199698 chr21 23432181 23432282 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199700 chr7 135960703 135960809 + RNU6-223P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199701 chr8 94713715 94713812 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199702 chr18 12304091 12304194 - RNU6-170P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199704 chr15 25223246 25223327 + SNORD115-29 snoRNA 100033803 0 0 0 0 0 0 0 0 0 ENSG00000199705 chrX 123857062 123857163 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199709 chr11 122927034 122927173 + RNU4-23P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199710 chr1 110764408 110764506 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199711 chr7 99936610 99936711 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199712 chr15 25172635 25172716 + SNORD115-2 snoRNA 100033437 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199713 chr18 58818883 58819016 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199715 chr6 18273165 18273266 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199716 chr14 22867818 22867917 + RF00019 misc_RNA 1 1 0 0 1 0 0 0 0 ENSG00000199719 chr20 18295143 18295451 - RN7SKP74 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199728 chr18 78036739 78036845 + RNU6-655P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199730 chr15 58703852 58704154 - RN7SKP95 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000199731 chr5 32234766 32234875 - RNU6-1079P snRNA 0 0 2 2 3 0 3 0 0 ENSG00000199732 chr8 96309221 96309322 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199733 chr10 26509589 26509704 + RNA5SP307 rRNA_pseudogene 3 9 8 2 9 3 1 12 1 ENSG00000199735 chr17 76656320 76656422 + RNU6-227P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199739 chr14 45274359 45274477 - RNU6-552P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199740 chr12 50939927 50940026 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199744 chr9 133350456 133350528 + SNORD36A snoRNA 26815 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199751 chrX 71491066 71491167 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199753 chr17 64146083 64146152 + SNORD104 snoRNA 2 0 2 34 12 23 16 8 6 ENSG00000199755 chr14 67340068 67340176 + RF00019 misc_RNA 0 0 0 95 54 57 26 15 13 ENSG00000199756 chr1 28881726 28881835 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199762 chr6 47489067 47489170 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199764 chr7 115207894 115207996 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199765 chr5 31595565 31595669 - RNU6-363P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199767 chr13 25517119 25517225 + RNU6-78P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199771 chr16 50869455 50869575 - RNA5SP426 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199773 chr5 7980146 7980304 + RNU1-76P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199780 chr4 59533786 59533898 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199781 chr2 232828653 232828751 + RF00019 misc_RNA 0 0 0 2 2 0 0 1 0 ENSG00000199782 chr15 25185631 25185712 + SNORD115-9 snoRNA 100033446 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199783 chr22 24901147 24901214 - RF00275 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199784 chr15 56274530 56274636 - RNU6-1287P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199785 chr11 811681 811814 + SNORA52 snoRNA 619565 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199786 chr5 102131007 102131135 - RNA5SP188 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199787 chr16 30419625 30419759 - RF00406 snoRNA 109616959 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199788 chr13 49095391 49095492 + RNY3P2 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000199790 chr4 41084607 41084713 + RNU6-836P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199791 chr2 230587121 230587227 + RNU6-451P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199792 chr3 175397247 175397348 - RNU6-1233P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199796 chr19 46306470 46306577 - RNU6-924P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199797 chr22 28303754 28303850 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199798 chr14 100955370 100955439 + SNORD114-5 snoRNA 767581 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199801 chr17 69985986 69986094 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199803 chr20 15021553 15021659 - RNU6-1159P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199804 chr14 24158603 24158722 + RNA5SP383 rRNA_pseudogene 16 14 12 11 18 18 9 5 10 ENSG00000199805 chr20 63908955 63909119 + RNU1-134P snRNA 6 1 7 1 6 0 3 0 1 ENSG00000199806 chr21 36851911 36852028 + RNA5SP491 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199809 chr12 118829681 118829805 + RNA5SP374 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199812 chr3 146571477 146571583 + RNU6-428P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199814 chr9 14850429 14850535 + RNU6-1260P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199815 chr3 8931506 8931631 + RF00560 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199824 chr12 51162901 51163007 + RNU6-199P snRNA 1 0 0 0 4 0 0 0 1 ENSG00000199827 chr2 175029769 175029877 + RNU6-1290P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199831 chr1 55376526 55376852 - RN7SKP291 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199832 chrX 107202577 107202683 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199833 chr15 25208083 25208163 + SNORD115-21 snoRNA 100033603 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199836 chr14 99945315 99945477 + RNU1-47P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199837 chr1 182944365 182944490 - RNA5SP71 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000199839 chr3 181822872 181822990 - RNA5SP150 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000199840 chr1 184171714 184171823 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199843 chr12 38161466 38161582 - RNA5SP358 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199845 chr12 123282916 123283034 - RNA5SP375 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199846 chr7 129484504 129484656 + RNU1-72P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199849 chr1 164351273 164351388 + RNU5F-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199851 chr6 28015568 28015777 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199855 chr10 27088321 27088427 - RNU6-490P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199856 chr18 7995570 7995785 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199857 chr4 76402076 76402146 + RF00278 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199858 chr3 178007672 178007779 - RNU6-1120P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199859 chr4 157201562 157201668 - RNU6-582P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199862 chr4 127028107 127028219 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199865 chr22 41377177 41377283 - RNU6-495P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199866 chr2 172558151 172558252 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199867 chr18 62330812 62330913 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199870 chr7 75353885 75353986 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199872 chr2 26042675 26042781 + RNU6-942P snRNA 0 1 2 0 0 0 0 0 0 ENSG00000199874 chr18 24170505 24170623 - RNA5SP452 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199875 chr11 93719603 93719715 + RF00019 misc_RNA 0 0 0 0 1 2 0 1 0 ENSG00000199878 chrX 143197248 143197591 - RN7SKP149 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199879 chr1 148263476 148263632 + RNU1-120P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199880 chr5 138123011 138123111 - RNU6-888P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199881 chr10 92272147 92272250 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199883 chr11 16842253 16842587 + RN7SKP90 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199884 chr2 152284350 152284460 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199885 chrX 74680053 74680159 + RNU6-330P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199886 chr12 42398550 42398651 + RNU6-249P snRNA 0 0 0 0 0 1 0 0 0 ENSG00000199890 chr1 111446798 111446908 + RF00019 misc_RNA 0 0 0 0 6 0 0 0 0 ENSG00000199892 chr5 180729586 180729737 + RNU1-17P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199894 chr4 110433109 110433188 - RF00494 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199895 chr12 92170353 92170453 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199899 chr12 113156763 113156861 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199900 chr19 7886977 7887096 - RNA5SP463 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000199901 chr4 52786537 52786638 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199903 chr12 51037499 51037602 + RNU6-1273P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199905 chr9 107475036 107475139 - RNU6-492P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199906 chr3 40498891 40499003 - RNU5B-2P snRNA 2 1 1 1 0 2 0 2 0 ENSG00000199910 chr1 228630390 228630508 - RNA5S10 rRNA 100169761 0 0 0 0 0 0 0 0 0 ENSG00000199911 chr5 24910594 24910695 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199912 chr12 7800361 7800467 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199913 chr7 73095357 73095458 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199914 chr14 100973595 100973664 + SNORD114-16 snoRNA 767594 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199920 chrX 134760208 134760348 - RNU4-44P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199921 chr1 76753135 76753240 + RNU6-161P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199924 chr4 52494849 52494952 + RNU6-1252P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199927 chr3 30304320 30304536 - RF01848 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199929 chr16 26028912 26029025 + RNA5SP405 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199932 chr6 122211648 122211811 + RNU1-18P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199933 chr12 101719808 101719918 + RNY1P16 misc_RNA 1 1 2 0 0 0 0 0 0 ENSG00000199934 chr1 85592280 85592356 + RF00136 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199936 chr2 85460144 85460252 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199938 chr6 38565950 38566055 + RF00019 misc_RNA 1 3 0 1 0 0 0 2 0 ENSG00000199940 chr7 71685452 71685747 - RN7SKP75 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199942 chr14 100976477 100976551 + SNORD114-19 snoRNA 767597 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199944 chr6 109059509 109059614 - RNU6-653P snRNA 0 2 0 0 0 0 0 0 0 ENSG00000199949 chr16 86275429 86275523 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199953 chr17 45327366 45327497 - RNA5SP443 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000199959 chr1 84277321 84277457 + RF00410 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000199960 chr15 25194921 25195001 + SNORD115-14 snoRNA 100033451 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199961 chr17 76561109 76561192 + SNORD1B snoRNA 677849 GO:0005730, nucleolus, GO:0006396, RNA processing, 3 3 5 0 5 1 1 6 4 ENSG00000199962 chr21 17576798 17576906 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199963 chr1 38926870 38926977 + RNU6-605P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199964 chr2 64834056 64834157 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199968 chr15 25204357 25204438 + SNORD115-19 snoRNA 100033458 0 0 0 0 0 0 0 0 0 ENSG00000199970 chr15 25174927 25175008 + SNORD115-3 snoRNA 100033440 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000199971 chr7 140209563 140209671 - RNU6-797P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199975 chr11 73832382 73832690 - RN7SKP243 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000199977 chr18 21817624 21817828 + RF00045 snoRNA 1 1 2 0 0 0 1 0 0 ENSG00000199979 chr16 68885576 68885677 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000199985 chr8 36764445 36764551 + RNA5SP264 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000199986 chr3 180581057 180581163 + RNU6-486P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000199990 chr5 140711275 140711373 + VTRNA1-1 misc_RNA Vaults are large cytoplasmic ribonucleoproteins of about 13 MD. They are composed of a major vault protein, MVP (MIM 605088), 2 minor vault proteins, TEP1 (MIM 601686) and PARP4 (MIM 607519), and a nontranslated RNA component, VTRNA1-1 (Kickhoefer et al., 1999 [PubMed 10551828]).[supplied by OMIM, Mar 2009]. 56664 0 0 0 0 2 2 0 0 1 ENSG00000199994 chr3 151188099 151188223 + RNA5SP145 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200003 chr2 27475494 27475595 - RNU6-986P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200008 chr15 33722492 33722596 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200011 chr12 93460725 93460826 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200013 chr17 60662333 60662437 - RNU6-623P snRNA 0 2 0 6 8 13 2 5 5 ENSG00000200021 chr17 74417594 74417704 - RNA5SP448 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200024 chr4 87743952 87744053 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200026 chr9 38147428 38147561 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200028 chr2 76772909 76773045 + RNA5SP98 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200029 chr2 218916184 218916287 - RNU6-642P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200033 chr1 221837334 221837437 - RNU6-403P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200034 chr2 9740643 9740783 - RNU4-73P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200036 chr1 167005959 167006077 + RNA5SP65 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200040 chr6 75928513 75928625 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200041 chr9 75181520 75181621 - RF00019 misc_RNA 2 4 6 9 11 15 7 6 27 ENSG00000200047 chr11 100839630 100839946 + RN7SKP115 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200048 chr2 78882628 78882734 + RNU6-812P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200049 chr4 143309466 143309566 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200051 chr5 140527352 140527428 - RF00279 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200052 chr3 165122713 165122823 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200057 chr22 21389191 21389491 + RN7SKP63 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200058 chr6 134257035 134257143 + RNA5SP218 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200059 chr16 2131851 2131950 + RF00019 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000200060 chr12 108738484 108738604 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200062 chr16 59540126 59540266 + RNU4-58P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200063 chr17 78399935 78400063 + RF00415 snoRNA 4 1 1 0 1 4 0 0 1 ENSG00000200064 chr13 49908634 49908730 - RNY4P9 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200065 chr5 32134738 32134834 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200070 chr15 59212648 59212788 - RNU4-80P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200072 chr13 112052078 112052138 + RF00287 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200075 chr8 129868590 129868716 - RF00402 snoRNA 1 1 10 0 1 2 0 0 0 ENSG00000200079 chr10 107461560 107461669 + RNA5SP326 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200084 chr16 89561434 89561517 + SNORD68 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200085 chr1 248029120 248029221 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200086 chr2 55014418 55014521 - RNU6-433P snRNA 0 0 1 0 6 0 0 2 3 ENSG00000200087 chr1 28508559 28508762 + SNORA73B snoRNA 26768 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 2 3 5 15 2 2 10 ENSG00000200089 chr14 100993236 100993310 + SNORD114-31 snoRNA 767612 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200090 chr11 47726894 47726992 - RF00019 misc_RNA 3 5 5 3 4 12 7 3 25 ENSG00000200091 chr6 75654970 75655299 - RN7SKP163 misc_RNA 5 2 1 0 2 8 8 2 0 ENSG00000200095 chr15 100560686 100560792 - RNU6-181P snRNA 2 2 1 2 1 0 2 0 0 ENSG00000200097 chr10 35250959 35251052 - RNU6-1167P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200101 chr2 59647621 59647723 + RNU6-508P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200102 chr14 21113639 21113745 - RNU6-252P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200105 chr12 15671707 15671810 - RNU6-251P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200106 chr9 109196201 109196309 - RNU6-984P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200107 chr17 55551810 55551920 + RNU6-1249P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200108 chr4 84233657 84233763 + RNU6-774P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200112 chr12 115852648 115852718 - RF00275 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200113 chr7 37419628 37419767 + RF00432 snoRNA 1 2 0 0 3 8 0 0 3 ENSG00000200114 chr3 12511095 12511213 - RNA5SP123 rRNA_pseudogene 0 0 2 1 0 0 0 0 0 ENSG00000200118 chr3 170244782 170244881 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200120 chr15 49137762 49137863 - RF00019 misc_RNA 0 0 0 4 0 0 0 1 0 ENSG00000200121 chr2 175176493 175176586 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200131 chr9 106679977 106680329 + RN7SKP77 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200132 chr18 14531676 14531782 - RNU6-1021P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200135 chr12 112149360 112149472 + RF00019 misc_RNA 0 0 0 4 0 0 0 0 0 ENSG00000200138 chr16 28183318 28183430 + RNY1P10 misc_RNA 5 0 2 0 0 0 3 2 0 ENSG00000200139 chr1 199888159 199888261 + RNU6-778P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200142 chr15 90977208 90977305 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200146 chr11 80527960 80528066 + RNU6-544P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200150 chr14 100956240 100956312 + RF00181 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200151 chr8 91594965 91595241 + RN7SKP231 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200152 chr11 74968189 74968292 - RNU6-216P snRNA 1 1 0 3 2 8 0 3 0 ENSG00000200153 chr16 70445293 70445399 - RNU6-23P snRNA 0 0 0 0 0 4 0 0 0 ENSG00000200156 chr15 65304677 65304792 + RNU5B-1 snRNA 26832 GO:0046540, GO:0005682, U4/U6 x U5 tri-snRNP complex, U5 snRNP, GO:0000353, GO:0000244, formation of quadruple SL/U4/U5/U6 snRNP, spliceosomal tri-snRNP complex assembly, 0 0 0 2 0 0 0 1 0 ENSG00000200161 chr5 149116178 149116480 - RN7SKP145 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200162 chr3 153607377 153607479 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200163 chr15 25203227 25203308 + SNORD115-18 snoRNA 100033456 0 0 0 0 0 0 0 0 0 ENSG00000200164 chr16 69191123 69191223 + RF00019 misc_RNA 1 0 1 1 0 0 0 1 0 ENSG00000200168 chr11 111040098 111040208 - RNA5SP350 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200169 chr1 44731055 44731170 - RNU5D-1 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200170 chr10 72220752 72220852 + RF00019 misc_RNA 2 2 5 1 0 0 1 0 0 ENSG00000200171 chr1 44153385 44153480 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200174 chr1 62211557 62211666 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200175 chr1 150812591 150812698 - RNU6-1309P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200176 chr10 86889569 86889733 + RNU1-19P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200179 chr19 36203347 36203459 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200183 chr12 50656973 50657078 + RNU6-238P snRNA 0 0 0 0 0 3 0 0 1 ENSG00000200184 chr3 192729555 192729716 - RNU1-20P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200189 chr7 69125270 69125376 + RNU6-832P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200191 chr8 71815494 71815625 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200197 chr11 123763927 123764089 + RNU1-21P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200198 chr6 105904373 105904687 + RN7SKP211 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200201 chr11 3665164 3665259 - RF00019 misc_RNA 0 0 1 0 3 0 0 0 0 ENSG00000200204 chr16 3086143 3086300 + RNU1-22P snRNA 10 7 19 5 22 17 9 14 15 ENSG00000200206 chr15 86173198 86173270 - RF00284 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200208 chr20 23457584 23457685 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200209 chr19 38294544 38294636 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200211 chr13 95336106 95336201 - RNY4P27 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200213 chr21 36066545 36066652 + RNU6-992P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200215 chr14 100939556 100939630 + SNORD113-6 snoRNA 767566 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200216 chr15 70193236 70193341 + RNU6-745P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200217 chr10 109239639 109239746 + RNU6-839P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200218 chr10 68846805 68846911 + RNU6-697P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200220 chr1 154039916 154040022 - RNU6-179P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200222 chr3 64071807 64072019 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200224 chr6 56945730 56945836 + RNU6-626P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200225 chr14 20414987 20415098 + RNA5SP382 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200227 chr5 151477459 151477577 - RNA5SP197 rRNA_pseudogene 0 0 0 0 1 0 0 2 5 ENSG00000200231 chr20 24237255 24237398 + RNU1-23P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200235 chr5 140579667 140579792 + RF00443 snoRNA 6 10 20 0 0 0 0 2 0 ENSG00000200237 chr19 9819954 9820094 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200238 chr3 56185104 56185222 + RNA5SP133 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200241 chr2 86159956 86160066 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200243 chr5 6848127 6848462 - RN7SKP79 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200246 chr8 32256496 32256623 + RNA5SP263 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200247 chr12 19445949 19446055 - RNU6-254P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000200248 chr6 117060682 117060799 + RNA5SP214 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200250 chr2 127316873 127316979 + RNU6-1147P snRNA 0 1 2 3 0 2 0 0 0 ENSG00000200252 chr15 59408905 59409015 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200253 chr10 87041238 87041341 - RNU6-529P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200254 chr1 42569033 42569139 + RNU6-536P snRNA 0 0 0 0 0 0 0 0 4 ENSG00000200256 chr11 75835215 75835323 - RF00019 misc_RNA 0 0 0 0 0 5 0 0 1 ENSG00000200257 chr17 76752912 76753015 + RNU6-97P snRNA 2 0 1 0 0 1 0 0 0 ENSG00000200259 chr19 49491175 49491260 + SNORD35A snoRNA 26816 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200261 chr9 112169286 112169397 + RF00019 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000200262 chr1 51107222 51107331 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200267 chr13 73112915 73113018 - RNU6-66P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200269 chr4 48106081 48106188 - RNU6-838P snRNA 0 0 0 0 0 0 1 0 0 ENSG00000200274 chr12 109567975 109568115 - RNU4-32P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200275 chr5 155845437 155845528 + RNA5SP199 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200278 chr11 124636459 124636592 + RNA5SP352 rRNA_pseudogene 0 0 0 1 1 9 0 0 0 ENSG00000200279 chr14 100967052 100967123 + SNORD114-10 snoRNA 767588 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200281 chr2 228169743 228169849 + RNU6-624P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200283 chr2 28972414 28972521 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200287 chr2 143897263 143897361 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200288 chr3 177624282 177624409 - RF00425 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200291 chrX 117914244 117914345 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200293 chr15 41851913 41852029 - RNA5SP393 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200294 chr10 72180858 72180989 + RF00340 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200295 chr6 106607716 106607819 + RNU6-527P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200296 chr12 62850738 62850901 - RNU1-83P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200298 chr14 72022407 72022516 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200301 chr20 35195306 35195423 + RNA5SP483 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200303 chr12 48975543 48975646 + RNU6-940P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200304 chr8 130069541 130069652 - RNU6-1255P snRNA 0 0 2 1 5 0 0 3 5 ENSG00000200305 chr15 39922782 39922886 - RF00019 misc_RNA 0 0 0 0 0 0 4 0 0 ENSG00000200309 chr12 49132853 49132947 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200310 chr6 120686621 120686742 + RNA5SP215 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200312 chr14 89712511 89712823 + RN7SKP255 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200313 chr20 5346006 5346160 - RNA5-8SP7 rRNA_pseudogene 0 0 0 0 0 0 5 0 0 ENSG00000200314 chr6 106454828 106454929 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200318 chr15 58760466 58760681 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200320 chr3 186787300 186787431 + SNORA63 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200325 chr20 30309015 30309126 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200326 chr15 27280318 27280436 - RNA5SP391 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200327 chr1 163468496 163468605 - RNA5SP62 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200331 chr5 78314916 78315025 - RNU6-183P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200332 chr22 41648089 41648190 - RF00019 misc_RNA 0 0 0 0 0 0 2 1 0 ENSG00000200334 chr5 149940030 149940131 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200336 chr11 18248389 18248506 - RNA5SP333 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200338 chr4 41771945 41772103 - RNU1-49P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200340 chr6 47823390 47823550 + RNU1-105P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200343 chr1 228625909 228626027 - RNA5S8 rRNA 100169759 0 0 0 0 0 0 0 0 0 ENSG00000200344 chr1 7982881 7982983 - RF00019 misc_RNA 1 0 3 0 0 0 0 0 0 ENSG00000200345 chr12 7118785 7118891 + RNU6-485P snRNA 0 1 0 0 1 0 0 0 0 ENSG00000200350 chr4 154543933 154544037 - RNU6-1285P snRNA 0 1 1 0 0 0 0 0 0 ENSG00000200351 chr5 98936638 98936747 - RF00019 misc_RNA 1 0 2 0 2 2 4 0 0 ENSG00000200354 chr20 38433865 38433998 - SNORA71D snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200355 chr3 172771277 172771405 - RF00139 snoRNA 0 0 0 0 0 3 0 0 0 ENSG00000200356 chr10 73279062 73279168 + RNU6-833P snRNA 2 0 0 0 1 0 7 4 0 ENSG00000200360 chr1 111490317 111490423 - RNU6-792P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200361 chr3 106688678 106688779 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200366 chr3 93977029 93977135 + RNU6-511P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200367 chr14 100943451 100943524 + SNORD113-8 snoRNA 767568 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200369 chr10 27315120 27315226 + RNU6-666P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200370 chr1 228646040 228646158 - RNA5S17 rRNA 100169768 0 0 0 0 0 0 0 0 0 ENSG00000200372 chr3 116965112 116965227 - RNU5E-8P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200376 chr11 47576471 47576588 - RNU5E-10P snRNA 0 0 1 0 1 0 0 0 0 ENSG00000200377 chr2 153446813 153446883 - RF00275 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200378 chr5 139447907 139448017 + RNU5B-4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200379 chr3 56072104 56072407 + RN7SKP45 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200381 chr1 228616991 228617109 - RNA5S4 rRNA 100169755 0 0 0 0 0 0 0 0 0 ENSG00000200385 chr14 37720425 37720561 + RF00406 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200388 chr12 31396390 31396501 + RNU6-618P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200389 chr3 141902924 141903030 - RNU6-509P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000200390 chr2 127829747 127829852 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200391 chr15 43863893 43864005 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200393 chr19 53653685 53653791 + RNU6-698P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200394 chr17 67740669 67740799 + SNORA38B snoRNA 100124536 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200397 chr7 87218611 87218712 - RF00019 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000200398 chr15 25213648 25213729 + SNORD115-24 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200403 chr1 19305076 19305182 - RNU6-1099P snRNA 0 0 0 0 0 0 5 0 0 ENSG00000200406 chr14 100983876 100983947 + SNORD114-23 snoRNA 767603 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200407 chr15 41448742 41448844 - RNU6-1169P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000200408 chr1 204562413 204562521 - RNA5SP74 rRNA_pseudogene 1 1 0 0 0 4 0 0 0 ENSG00000200411 chr11 96474572 96474692 - RNA5SP346 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200413 chr14 100987046 100987117 + SNORD114-26 snoRNA 767606 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200418 chr3 186786323 186786445 + RF00092 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200419 chr15 45591984 45592085 + RF00019 misc_RNA 1 0 2 0 13 7 9 8 3 ENSG00000200421 chr1 37737955 37738054 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200422 chrX 87146733 87146804 + RF00279 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200424 chr16 58744251 58744357 - RNU6-1155P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200427 chr6 85777639 85777755 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200428 chr12 50743568 50743684 + RF00019 misc_RNA 3 3 3 7 9 9 6 8 6 ENSG00000200431 chrX 70450879 70451022 + RNU4-81P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200432 chr2 128067800 128067901 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200434 chr16 34162959 34163110 + RNA5-8SP2 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200436 chrX 112661657 112661768 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200437 chr17 15311345 15311451 + RNU6-799P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200443 chr22 27035887 27035991 + RNU6-1066P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200444 chr15 83824863 83824953 - RNU6-1339P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200446 chr7 35930158 35930264 - RNU6-1085P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200448 chr22 42762860 42762959 - RF00019 misc_RNA 0 0 0 2 0 0 0 1 0 ENSG00000200455 chr4 40077884 40077982 + RNU6-1112P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200456 chr7 44503773 44503879 - RNU6-1097P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200462 chr5 87420341 87420447 - RNU6-727P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200463 chr17 8173454 8173587 - SNORD118 snoRNA 727676 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200468 chr16 9564390 9564497 - RNA5SP403 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200469 chr4 88275205 88275308 - RNU6-112P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200471 chr7 54621025 54621131 + RNU6-1125P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200472 chr18 31718893 31719208 + RN7SKP44 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200473 chrX 70253042 70253162 + RNA5SP507 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200475 chr12 13683542 13683886 + RN7SKP162 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200478 chr15 25245478 25245559 + SNORD115-41 snoRNA 100033815 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200480 chr14 100989130 100989201 + SNORD114-28 snoRNA 767609 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200483 chr12 131815263 131815368 - RNU6-1017P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200484 chr10 32394558 32394665 - RNU6-1244P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200485 chr11 33196547 33196637 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200486 chr15 25189414 25189495 + SNORD115-11 snoRNA 100033448 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200487 chr10 86052448 86052566 + RNA5SP322 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200488 chr2 76445079 76445410 - RN7SKP203 misc_RNA 2 1 0 0 2 1 7 0 0 ENSG00000200492 chr6 92119423 92119633 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200494 chr20 16670641 16670742 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200495 chr1 248912690 248912795 - RNU6-1205P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200496 chr11 123301390 123301523 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200502 chr9 37160137 37160237 + RF00019 misc_RNA 7 2 5 7 10 6 7 6 5 ENSG00000200503 chr15 25178738 25178819 + SNORD115-5 snoRNA 100033442 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200506 chr14 99583017 99583118 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200508 chr1 64066640 64066741 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200516 chr12 131801315 131801434 - RNA5SP378 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200520 chr4 139318378 139318486 + RNU6-1214P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200521 chr4 157768013 157768113 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200522 chr6 110722250 110722348 - RNU6-957P snRNA 0 0 0 0 0 2 1 2 0 ENSG00000200525 chr8 95055214 95055320 + RNU6-1209P snRNA 0 0 0 0 0 1 0 0 0 ENSG00000200526 chr13 39785415 39785510 - RNY4P14 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200527 chr18 49946266 49946389 - RNA5SP457 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200528 chr8 53914719 53914824 + RNU6-1331P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200530 chr19 49497720 49497806 + SNORD35B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200534 chr6 132817219 132817348 + SNORA33 snoRNA 594839 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 0 6 13 14 28 18 6 12 ENSG00000200536 chr1 110272484 110272607 + RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200537 chr11 117015897 117015992 + RNY4P6 misc_RNA 1 0 0 1 0 7 3 0 2 ENSG00000200538 chr17 48382371 48382586 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200544 chr9 33352788 33352874 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200545 chr10 19598247 19598463 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200547 chr1 116452536 116452627 + RF00019 misc_RNA 0 0 0 0 0 1 0 0 0 ENSG00000200550 chr2 42712740 42712847 + RNU6-137P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200552 chr7 102336869 102336970 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200553 chr4 119947131 119947232 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200554 chr9 125303920 125304026 - RNU6-1020P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200555 chr5 180444509 180444612 + RNU6-525P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200556 chr16 58496908 58497014 + RNU6-103P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200558 chr16 68742480 68742588 + RNA5SP429 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200560 chr17 63573242 63573345 - RNU6-288P snRNA 0 0 1 0 0 0 6 0 0 ENSG00000200563 chr2 86515204 86515308 - RNU6-640P snRNA 0 0 0 12 0 0 0 0 0 ENSG00000200564 chr15 25241746 25241827 + SNORD115-39 snoRNA 100033813 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200566 chrX 15916189 15916303 - RNU5F-7P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200570 chr9 93375556 93375667 + RNU6-829P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200571 chr3 136430084 136430183 - RNU6-1284P snRNA 0 0 0 2 0 0 0 1 0 ENSG00000200572 chrX 134142228 134142340 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200575 chr1 61816419 61816522 + RNU6-414P snRNA 0 0 0 0 0 3 0 0 0 ENSG00000200579 chr3 38014568 38014669 + RF00019 misc_RNA 0 1 6 3 1 2 4 1 0 ENSG00000200587 chrX 131938846 131938956 - RNA5SP514 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200591 chr1 32639951 32640052 + RF00019 misc_RNA 0 0 0 0 0 7 0 0 0 ENSG00000200593 chr15 25230838 25230919 + SNORD115-33 snoRNA 100033807 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200594 chr6 154825176 154825279 - RNU6-824P snRNA 0 1 2 1 5 0 4 0 0 ENSG00000200597 chr6 37915573 37915742 + RNU1-87P snRNA 1 5 2 0 0 0 0 1 2 ENSG00000200600 chr5 23994502 23994603 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200601 chr1 73749517 73749623 - RNA5SP50 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200605 chr15 50221888 50221996 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200608 chr14 100968111 100968185 + SNORD114-11 snoRNA 767589 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200610 chr3 106515897 106515998 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200612 chr14 100986057 100986128 + SNORD114-25 snoRNA 767605 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200613 chr11 109120878 109120986 - RNA5SP349 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200615 chr11 33004250 33004345 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200616 chr3 179097731 179097840 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200619 chr17 67268110 67268228 + RNA5SP447 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200620 chrX 15716208 15716346 + RF00409 snoRNA 1 0 0 0 0 0 0 0 0 ENSG00000200622 chr4 95868667 95868764 - RNU6-1059P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200623 chr15 66503243 66503314 - SNORD18A snoRNA 595098 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200624 chr1 228621447 228621565 - RNA5S6 rRNA 100169757 0 0 0 0 0 0 0 0 0 ENSG00000200626 chr10 106970021 106970150 + RNA5SP325 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200629 chr7 129164849 129164961 + RNY1P11 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200630 chr8 13160178 13160279 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200632 chr14 100941126 100941202 + SNORD113-7 snoRNA 767567 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200635 chrX 55582733 55582834 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200636 chr14 100988161 100988230 + SNORD114-27 snoRNA 767608 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200637 chr18 6017723 6017839 - RNU5F-3P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200638 chr15 25237986 25238067 + SNORD115-37 snoRNA 100033811 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200645 chr18 14759188 14759294 + RNU6-1210P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200646 chr19 56316524 56316636 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200648 chr5 175703898 175704004 + RNU6-226P snRNA 8 5 9 10 18 12 21 13 2 ENSG00000200650 chr2 188276732 188276844 - RNA5SP114 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200651 chr17 77442109 77442213 + RF00019 misc_RNA 0 1 0 0 0 0 3 0 4 ENSG00000200652 chr16 28179098 28179223 + RF00402 snoRNA 3 2 10 0 0 3 0 2 10 ENSG00000200653 chr14 88820297 88820432 + RNU4-92P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200656 chr7 45105968 45106099 - SNORA5B snoRNA 677795 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200661 chr15 25074114 25074215 + SNORD116-10 snoRNA 100033422 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200664 chr2 135810169 135810279 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200665 chr12 116082570 116082676 + RNU6-1188P snRNA 1 0 0 2 0 12 0 0 0 ENSG00000200670 chr7 65814672 65814775 + RNU6-912P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200673 chr7 144849755 144850084 - RN7SKP174 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200674 chr1 173791548 173791887 + RN7SKP160 misc_RNA 0 0 0 0 0 0 3 0 0 ENSG00000200677 chr15 90755243 90755312 - RF00093 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200680 chr15 25176832 25176913 + SNORD115-4 snoRNA 100033441 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200681 chr6 18306973 18307079 - RNU6-263P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200683 chr22 40917743 40917846 + RNU6-379P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200685 chr11 13686550 13686658 - RF00019 misc_RNA 1 1 0 0 0 0 0 0 0 ENSG00000200686 chr13 78355227 78355328 - RNY3P3 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200687 chr11 19401872 19401981 - RNA5SP335 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200688 chr12 112069104 112069209 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200693 chr14 63651296 63651499 - RF00012 snoRNA 1 1 1 0 2 0 2 1 1 ENSG00000200701 chr2 85204926 85205032 + RNU6-674P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200702 chrX 44401603 44401704 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200703 chr3 87742543 87742649 - RNU6-873P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200706 chr6 38207274 38207345 + RF00279 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200708 chr2 133596091 133596399 + RN7SKP93 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200709 chr13 45551485 45551603 - RNA5SP27 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200711 chr13 50812988 50813106 - RNA5SP28 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200713 chr8 8895813 8895918 + RNU6-682P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200714 chr8 65592731 65592820 + RF00019 misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000200718 chr2 132523617 132523936 + RN7SKP103 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200719 chr8 29048494 29048604 - RNA5SP260 rRNA_pseudogene 0 1 3 0 0 3 3 0 0 ENSG00000200720 chr4 45480030 45480136 + RNU6-931P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200726 chr15 25184306 25184387 + SNORD115-8 snoRNA 100033445 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200728 chr10 96112747 96112851 + RNU6-271P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200731 chr8 43073474 43073618 + RNU1-124P snRNA 0 1 2 0 0 0 0 1 0 ENSG00000200732 chr6 119327281 119327385 + RNU6-194P snRNA 0 0 5 0 1 6 5 0 2 ENSG00000200733 chr13 89837170 89837237 + RF00212 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200737 chr10 97421195 97421307 - RF00019 misc_RNA 2 2 0 0 6 0 0 0 6 ENSG00000200738 chr19 32243965 32244083 - RNA5SP472 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200741 chr4 56097390 56097504 + RNA5SP161 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200742 chr14 55651534 55651634 + RF00019 misc_RNA 0 2 1 0 0 0 0 1 0 ENSG00000200745 chr2 236210373 236210548 - RNU1-31P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200750 chr18 21724119 21724229 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200752 chr18 50959267 50959379 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200753 chr7 20377331 20377401 + RF00275 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200754 chr21 17527140 17527247 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200755 chr1 173969318 173969436 - RNA5SP68 rRNA_pseudogene 1 0 4 0 0 2 0 0 0 ENSG00000200756 chr5 139717985 139718090 - RNU6-236P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200757 chr15 25199448 25199529 + SNORD115-16 snoRNA 100033454 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200759 chr1 151022746 151022852 - RNU6-884P snRNA 0 1 1 0 0 0 0 0 0 ENSG00000200761 chr4 4920770 4921064 - RN7SKP113 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200763 chr2 20175805 20175909 + RNU6-961P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200764 chr2 207687960 207688059 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200769 chr7 92202243 92202334 - RF00019 misc_RNA 0 0 0 1 6 2 5 0 0 ENSG00000200774 chr10 83067962 83068071 - RNU6-478P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200779 chr2 71379755 71379858 - RNU6-105P snRNA 9 12 18 19 34 49 28 18 32 ENSG00000200783 chr17 72663823 72664152 - RN7SKP180 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200785 chr14 21397292 21397401 - SNORD8 snoRNA 319103 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200786 chr7 79654109 79654227 + RNA5SP234 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200788 chr9 127470875 127470987 + RF00019 misc_RNA 0 0 0 0 1 3 5 4 0 ENSG00000200789 chr10 84003332 84003479 + RNU1-65P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200790 chr15 21866210 21866316 - RNU6-631P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200792 chr21 32377187 32377322 - SNORA80A snoRNA 677846 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200794 chr12 109662863 109663183 - RN7SKP250 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200795 chr12 120293097 120293237 - RNU4-1 snRNA 26835 GO:0046540, GO:0005687, U4/U6 x U5 tri-snRNP complex, U4 snRNP, GO:0017070, U6 snRNA binding, GO:0000353, GO:0000244, formation of quadruple SL/U4/U5/U6 snRNP, spliceosomal tri-snRNP complex assembly, 0 2 0 0 2 0 2 0 0 ENSG00000200796 chr1 38396659 38396765 + RNU6-753P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200799 chr6 108392073 108392177 + RNU6-770P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200800 chr1 96225901 96226060 + RNU1-130P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200801 chr15 25222348 25222428 + SNORD115-28 snoRNA 100036565 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200806 chr8 107884494 107884611 + RNA5SP275 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200807 chr2 60384605 60384763 + RNU1-32P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200812 chr15 25180497 25180578 + SNORD115-6 snoRNA 100033443 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200814 chr12 62334091 62334197 - RNU6-595P snRNA 40 36 26 18 53 21 25 31 20 ENSG00000200815 chr7 50435380 50435486 + RNU6-1091P snRNA 0 0 0 0 3 0 0 0 0 ENSG00000200816 chr6 31623079 31623210 + SNORA38 snoRNA 677820 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200817 chr11 58026706 58026812 - RNU6-899P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200818 chr14 56824986 56825092 + RNU6-1204P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200822 chr2 222404985 222405095 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200823 chr14 100951856 100951933 + SNORD114-2 snoRNA 767578 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200827 chr18 12098427 12098532 + RNU6-324P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200829 chr2 20480844 20480955 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200830 chr12 14553702 14553970 - RN7SKP134 misc_RNA 0 0 0 0 3 0 0 0 0 ENSG00000200831 chr9 133350095 133350168 + SNORD36B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200832 chr14 100954374 100954448 + SNORD114-4 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200834 chr9 33830978 33831078 + RF00019 misc_RNA 1 0 1 5 0 0 1 0 0 ENSG00000200839 chr1 51973410 51973535 + RNA5SP48 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200840 chr13 28232501 28232607 + RNU6-82P snRNA 3 0 0 2 0 0 7 7 1 ENSG00000200842 chr17 62036833 62036945 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200847 chr7 23491792 23491893 - RF00019 misc_RNA 0 0 0 0 0 1 0 0 0 ENSG00000200849 chr10 10232611 10232712 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200852 chrX 9133828 9133946 + RNA5SP499 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200855 chr11 108084913 108085014 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200857 chr7 69507510 69507622 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200860 chr14 66177527 66177635 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200867 chr4 7112088 7112399 - RN7SKP36 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200869 chr16 6873899 6874005 + RNU6-457P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200871 chr22 29134014 29134120 + RNU6-810P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000200872 chr18 48475487 48475600 - RNA5SP456 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200873 chr15 71858570 71858686 + RNA5SP399 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200874 chr7 75513025 75513126 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200875 chr18 2649761 2649867 - RNU6-340P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200877 chr11 86153227 86153334 + RNU6-560P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200879 chr11 123058077 123058161 - SNORD14E snoRNA 85391 0 1 0 324 706 418 128 252 243 ENSG00000200882 chr3 177126017 177126120 - RNU6-681P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200883 chr18 9249649 9249746 - RF00019 misc_RNA 2 1 0 3 4 1 6 7 0 ENSG00000200884 chr5 96962656 96962757 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200885 chr12 19724435 19724599 + RNU1-146P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200887 chr10 30299569 30299673 - RNU6-598P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200888 chr17 45071442 45071543 + RF00019 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000200889 chr17 59537359 59537499 - RNU4-13P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200890 chr2 81496214 81496327 - RNA5SP99 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000200891 chr10 87994618 87994695 - RF00284 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200893 chr16 20784509 20784615 + RNU6-944P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200895 chr6 131820334 131820653 + RN7SKP245 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200897 chr12 107374747 107374827 + RF00284 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200898 chr11 61937894 61938000 + RNU6-1243P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200902 chr2 163288995 163289096 + RNU6-627P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200903 chr17 48949361 48949520 - RNU1-42P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200906 chrX 77837289 77837395 + RNU6-854P snRNA 2 2 3 1 0 12 0 0 0 ENSG00000200913 chr1 44776490 44776593 + SNORD46 snoRNA 94161 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 2 0 0 3 0 ENSG00000200914 chr17 6600944 6601051 - RNA5SP435 rRNA_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000200917 chr4 105406997 105407092 + RNU6-553P snRNA 0 0 0 0 0 2 2 0 0 ENSG00000200922 chr9 71902455 71902550 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200924 chr2 43892690 43892796 + RNU6-1048P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200926 chr6 111091213 111091332 - RNU6-960P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200935 chr10 116538183 116538276 + RNU6-1090P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200941 chr9 4386410 4386556 - RNU6-694P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200942 chr1 201733406 201733505 + RNU6-501P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200949 chr15 25228967 25229048 + SNORD115-32 snoRNA 100033806 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200953 chr12 51156868 51156977 - RF00019 misc_RNA 0 0 0 0 0 0 0 2 0 ENSG00000200957 chr6 19642425 19642529 - RNU6-801P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200959 chr5 139278781 139278978 + SNORA74A snoRNA 26821 GO:0072588, GO:0005730, box H/ACA RNP complex, nucleolus, GO:0005515, protein binding, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200963 chr4 111331412 111331518 + RNU6-289P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200966 chr9 100581079 100581379 - RN7SKP87 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200969 chr9 81888918 81888985 + RF00189 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200972 chr1 210374154 210374267 - RNU5A-8P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200974 chr4 165252580 165252661 + RNU4-87P snRNA 0 3 0 0 0 0 0 0 0 ENSG00000200975 chr1 8206434 8206597 - RNU1-7P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200976 chr22 29758758 29758859 + RF00019 misc_RNA 1 0 0 0 0 0 0 1 0 ENSG00000200982 chr1 248045788 248045889 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200983 chr11 8684227 8684356 + SNORA3A snoRNA 619562 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200985 chr22 21792434 21792524 + RNA5SP493 rRNA_pseudogene 1 3 4 7 9 4 5 4 3 ENSG00000200986 chr8 47131781 47131887 - RNU6-819P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200987 chr15 25225203 25225284 + SNORD115-30 snoRNA 100033804 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000200991 chr15 84852498 84852615 - RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000200997 chr17 58679527 58679690 - RNU1-85P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000200998 chr4 78632273 78632385 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000200999 chr4 26702309 26702388 + RF00284 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201000 chrX 142411053 142411171 + RNA5SP516 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201001 chr10 28760699 28760803 - RNU6-270P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201003 chr1 53771018 53771153 - RF00418 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201006 chr2 120651273 120651374 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201009 chr7 132753023 132753126 + RF00218 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201010 chr2 48217575 48217899 + RN7SKP224 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201012 chr6 135474504 135474609 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201013 chr2 233379843 233379955 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201014 chr7 71913738 71913856 - RNA5SP232 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201015 chr6 67546651 67546754 + RNU6-280P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201016 chr5 25701217 25701324 - RNU6-374P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201021 chr20 43405473 43405578 + RNU6-743P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201023 chr6 109305494 109305595 + RNY3P11 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201025 chr21 16284696 16284768 - SNORD74B snoRNA 109617014 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201026 chr5 2184710 2184820 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201027 chr14 89621918 89622207 + RN7SKP107 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201028 chr1 111650431 111650537 - RNU6-151P snRNA 5 2 0 0 0 0 2 0 0 ENSG00000201031 chr3 149094353 149094462 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201032 chr1 200933345 200933447 - RNU6-704P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201033 chr3 27513871 27514032 + RNU1-96P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201034 chr16 439297 439397 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201035 chr19 21113128 21113236 - RNA5SP469 rRNA_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000201036 chr14 100979002 100979090 + RF00181 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201041 chr7 128697439 128697556 + RNA5SP242 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201042 chr12 118888434 118888564 - RF00428 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201044 chr2 230752141 230752247 + RNU6-268P snRNA 1 0 0 1 0 0 0 0 0 ENSG00000201047 chr10 73082494 73082595 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201048 chr6 10674658 10674768 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201050 chr4 164787290 164787396 + RNU6-668P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201059 chr11 21000881 21000997 - RNA5SP336 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201065 chr3 102755064 102755170 - RNU6-461P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201066 chr7 155181881 155182184 + RN7SKP280 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201070 chr2 98782410 98782548 + RNU4-84P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201071 chr15 64111458 64111569 - RF00019 misc_RNA 3 0 0 0 2 0 0 0 0 ENSG00000201074 chr9 93417855 93417966 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201075 chr16 14275508 14275600 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201076 chr2 60911303 60911442 + RNU4-51P snRNA 0 4 0 0 8 10 3 1 5 ENSG00000201077 chr15 42427591 42427697 - RNU6-188P snRNA 0 0 0 4 0 0 0 1 0 ENSG00000201078 chr22 37055033 37055347 - RN7SKP214 misc_RNA 2 0 0 0 0 0 0 0 0 ENSG00000201084 chr15 32175247 32175351 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201085 chr4 188121531 188121634 - RNU6-173P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201086 chr15 49982443 49982561 + RNA5SP394 rRNA_pseudogene 0 1 0 0 0 0 0 0 3 ENSG00000201088 chr2 174264878 174264981 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201095 chrX 22527835 22527941 + RNU6-266P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201096 chr14 75604173 75604278 + RNA5SP387 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201097 chr14 92265702 92265807 + RNU6-366P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201098 chr7 148987136 148987248 - RNY1 misc_RNA Y RNAs are small noncoding RNAs that were originally identified as the RNA component of soluble ribonucleoproteins (RNPs) termed Ro RNPs. Ro RNPs are detected by autoimmune sera of patients suffering from rheumatic diseases, such as from systemic lupus erythematosus (MIM 152700) and Sjogren syndrome (MIM 270200). Ro RNPs consist of a Y RNA that is associated with the autoimmune antigen proteins Ro60 (TROVE2; MIM 600063) and La (SSB; MIM 109090), as well as other proteins. Four human Y RNAs have been identified: Y1, Y3 (RNY3; MIM 601822), Y4 (RNY4; MIM 601823), and Y5 (RNY5; MIM 601824). (Y2 is a truncated form of Y1.) Y RNAs are transcribed by RNA polymerase III and range in size from 83 to 112 nucleotides. They appear to have a functional role in chromosomal DNA replication (Christov et al., 2006 [PubMed 16943439]).[supplied by OMIM, Apr 2009]. 6084 1 0 0 0 0 0 0 0 3 ENSG00000201102 chr2 177194983 177195095 + RF00019 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000201104 chr7 123790605 123790711 - RNU6-11P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201109 chr7 130027277 130027397 + RNA5SP245 rRNA_pseudogene 0 0 0 8 4 4 1 0 0 ENSG00000201113 chr2 32214456 32214562 - RNU6-647P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201114 chr1 114490724 114490832 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201118 chr9 19089593 19089688 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201119 chr6 145463238 145463399 - RNU1-33P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201121 chr3 101662060 101662164 - RNY1P12 misc_RNA 3 2 0 3 4 0 2 5 3 ENSG00000201129 chr1 154259727 154259862 + SNORA58B snoRNA 109617023 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 1 1 12 6 8 6 1 5 ENSG00000201133 chr7 50935350 50935493 - RF00394 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201134 chr1 151841736 151841837 - RF00019 misc_RNA 1 1 2 4 0 6 2 0 2 ENSG00000201135 chr1 12077881 12077984 - RNU6-777P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201136 chr15 43702363 43702470 + RNU6-353P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201140 chr9 117197118 117197420 + RN7SKP128 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201142 chr1 147079746 147079870 + RNU1-151P snRNA 0 0 0 0 0 0 0 0 3 ENSG00000201143 chr15 25247345 25247426 + SNORD115-42 snoRNA 100033816 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201145 chr4 190017696 190017814 + RNA5SP175 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201148 chr1 34112949 34113063 + RNA5SP42 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201151 chr20 35117136 35117207 - RF00275 snoRNA 2 1 4 9 3 19 5 7 3 ENSG00000201153 chr1 62298149 62298256 - RNU6-371P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201155 chr13 101778884 101779048 - RNU1-24P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201157 chr8 18979619 18979772 + RF00091 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201160 chr2 25697076 25697188 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201161 chr13 109915096 109915420 + RN7SKP10 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201162 chr3 15339749 15339855 + RNU6-454P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201164 chr16 68535515 68535658 + RNU4-36P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201165 chr7 65023204 65023310 - RNU6-1229P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201168 chr12 101779814 101779929 + RNA5SP368 rRNA_pseudogene 0 0 0 0 2 0 0 1 0 ENSG00000201170 chr1 245133927 245134090 - RNU1-132P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201176 chr4 168885355 168885461 + RNU6-853P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201178 chr17 32830219 32830329 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201179 chr7 105332790 105332896 + RNU6-1322P snRNA 2 0 2 1 0 0 0 0 0 ENSG00000201180 chr20 15022852 15022958 + RNU6-115P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201182 chr3 10037552 10037655 + RNU6-670P snRNA 0 0 1 1 3 0 1 0 0 ENSG00000201183 chr1 148402715 148402875 + RNVU1-3 snRNA 101954272 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 4 0 1 5 0 ENSG00000201184 chr14 103567405 103567545 + RNU4-68P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201185 chr6 4427963 4428081 + RNA5SP202 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201186 chr4 119367562 119367646 + RNU4-33P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201196 chr10 52852607 52852703 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201198 chr12 57415296 57415403 + RNU6-879P snRNA 0 0 0 3 0 0 0 0 0 ENSG00000201201 chr16 67321658 67321987 - RN7SKP118 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201207 chr6 31663288 31663401 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201208 chr12 113178423 113178519 - RF00019 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000201209 chr22 28232756 28232823 - RF00150 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201210 chr3 127963608 127963724 + RNA5SP139 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201216 chr8 102950467 102950564 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201217 chr3 152449272 152449384 + RF00019 misc_RNA 6 16 8 12 10 20 14 6 9 ENSG00000201218 chr7 7102573 7102681 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201221 chr20 35887659 35887801 + RNU4-40P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201223 chr5 36155119 36155222 + RNU6-1305P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201228 chr12 31506303 31506404 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201229 chr3 183451857 183451988 + SNORA63D snoRNA 109616971 0 0 0 0 0 0 0 0 0 ENSG00000201231 chr8 58814412 58814552 - RNU4-50P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201239 chr17 82417226 82417321 + RF00019 misc_RNA 0 0 1 0 0 1 0 0 0 ENSG00000201240 chr14 100966029 100966100 + SNORD114-9 snoRNA 767585 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201241 chr15 19883614 19883716 + RNU6-978P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201242 chr13 27402476 27402587 - RNY1P1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201243 chr11 109005517 109005623 + RNU6-654P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201245 chr13 99783857 99783983 - RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201247 chr14 100969879 100969952 + SNORD114-13 snoRNA 767591 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201253 chr13 73191528 73191667 + RNU4-10P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201255 chr17 30360463 30360566 + RNU6-990P snRNA 0 0 0 0 0 0 1 0 2 ENSG00000201260 chr10 16207821 16207927 - RNU6-1075P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201263 chr14 100957166 100957237 + SNORD114-6 snoRNA 767582 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201264 chr4 151102057 151102128 + SNORD73B snoRNA 114655 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 2 5 0 0 0 0 0 ENSG00000201270 chr1 164980035 164980137 - RNU6-755P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201271 chrX 72740706 72740869 - RNU1-112P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201273 chr1 22010985 22011088 + RNU6-776P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201274 chr5 132848577 132848696 + RNA5SP192 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201277 chr5 173254190 173254290 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201279 chr11 3663815 3663911 - RF00019 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000201282 chr7 73011144 73011245 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201285 chrX 148008100 148008215 - RNA5SP524 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000201287 chr9 37661747 37662049 - RN7SKP171 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201288 chr3 127240968 127241074 - RNU6-1047P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201289 chr16 61743154 61743476 - RN7SKP76 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201291 chr6 75473738 75473894 - RNU1-34P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201292 chr6 166209403 166209506 + RNU6-153P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201294 chr20 3360036 3360142 + RNU6-1019P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201296 chr12 98417896 98418038 - RNU4-41P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201297 chr4 125362819 125362929 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201298 chr5 134701172 134701278 - RNU6-1164P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201300 chr15 25220497 25220578 + SNORD115-27 snoRNA 100036564 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201301 chr3 49467115 49467228 - RNA5SP130 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201302 chr9 127448501 127448630 - SNORA65 snoRNA 26783 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 3 3 4 2 3 0 ENSG00000201308 chr2 135656477 135656579 - RNU6-512P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201309 chr6 134283092 134283193 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201311 chr2 82307067 82307168 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201312 chr1 185014951 185015067 - RNA5SP72 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201314 chr4 145958128 145958240 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201315 chr3 36685040 36685369 + RN7SKP227 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201316 chr8 51015021 51015165 + RF00409 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201317 chr1 92700819 92700934 - RNU4-59P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201318 chr14 100991919 100991990 + SNORD114-30 snoRNA 767611 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201321 chr1 228628148 228628266 - RNA5S9 rRNA 100169760 GO:0005840, ribosome, GO:0003735, structural constituent of ribosome, 0 0 0 0 0 0 0 0 0 ENSG00000201324 chr12 108926435 108926541 - RNU6-361P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201325 chr3 137518134 137518255 - RNA5SP142 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201326 chr15 25209918 25209999 + SNORD115-22 snoRNA 100033799 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201329 chr8 43378297 43378510 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201330 chr6 29582249 29582332 + SNORD32B snoRNA 692092 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201331 chr15 25211796 25211877 + SNORD115-23 snoRNA 100033800 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201339 chr3 93967926 93968020 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201340 chr17 50696644 50696760 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201341 chrX 49945336 49945442 - RNU6-421P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201342 chr3 170057301 170057429 + RNU4-38P snRNA 3 9 1 1 0 0 1 0 1 ENSG00000201343 chr3 177120691 177120800 - RF00019 misc_RNA 0 1 1 0 0 3 0 0 0 ENSG00000201346 chr20 3384229 3384440 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201347 chr1 178560913 178561029 + RNA5SP69 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201348 chr20 8831186 8831393 + RNU105B snoRNA 26767 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201351 chr14 90177222 90177330 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201354 chr7 140609847 140609955 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201355 chr1 228639337 228639455 - RNA5S14 rRNA 100169765 0 0 0 0 0 0 0 0 0 ENSG00000201356 chrX 28982852 28982970 - RNA5SP500 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201358 chr14 50068568 50068873 + RN7SKP193 misc_RNA 0 0 0 0 0 5 0 0 1 ENSG00000201361 chr16 84262815 84262928 - RNA5SP433 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201363 chr20 44344839 44344933 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201364 chr10 21933143 21933438 + RN7SKP37 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201365 chr8 66653469 66653576 + RF00019 misc_RNA 1 0 0 0 5 0 2 3 0 ENSG00000201367 chr6 15314920 15315026 + RNU6-522P snRNA 1 5 0 2 0 0 0 2 0 ENSG00000201368 chr5 35429064 35429277 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201370 chr5 16623004 16623095 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201371 chr16 27722284 27722392 - RF00019 misc_RNA 0 0 0 3 0 0 0 0 0 ENSG00000201372 chr20 43473013 43473119 + RNU6-1251P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201376 chr14 51244090 51244224 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201377 chrX 70396279 70396375 + RNY4P23 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201379 chr6 121542486 121542626 - RNU4-76P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201382 chr12 116782105 116782208 + RNU6-558P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201384 chr14 77201026 77201140 - RF00421 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201386 chr6 112971493 112971599 + RNU6-1163P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201388 chr19 32608337 32608469 - SNORA68B snoRNA 109616972 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 0 0 1 11 2 0 0 ENSG00000201390 chr10 21661635 21661741 - RNU6-1141P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201392 chrX 71965972 71966074 - RNU6-1078P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201393 chr10 78367507 78367623 + RF00056 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201394 chr3 133710076 133710167 - RNA5SP140 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201395 chr14 36593839 36594147 - RN7SKP257 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201398 chr3 154007367 154007502 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201403 chr11 17075779 17075868 - SNORD14B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201405 chr1 23370254 23370346 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201407 chrX 24133186 24133317 + RF00263 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201410 chr3 86125216 86125287 + RF00342 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201412 chr10 92710499 92710608 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201413 chr3 134783436 134783555 - RNA5SP141 rRNA_pseudogene 0 1 0 0 0 0 2 0 0 ENSG00000201415 chr6 17721786 17721903 - RNA5SP204 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201420 chrX 111669829 111669948 - RNA5SP512 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201421 chr1 185251313 185251411 + RF00019 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000201423 chr5 144535354 144535670 - RN7SKP246 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201426 chr3 110727021 110727121 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201428 chr12 112267077 112267394 + RN7SKP71 misc_RNA 0 0 0 0 0 0 2 0 0 ENSG00000201431 chr14 37827798 37827904 - RNU6-1277P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201432 chr7 36337667 36337778 - RF00019 misc_RNA 0 0 2 0 0 0 0 0 0 ENSG00000201433 chr4 183675603 183675715 - RNU6-335P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000201435 chr12 96303375 96303513 - RNU4-24P snRNA 0 0 0 1 1 0 0 0 0 ENSG00000201436 chr5 16941843 16941951 - RNU6-660P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201439 chr12 25404288 25404428 - RNU4-67P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201440 chrX 135428168 135428285 - RNA5SP515 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201441 chr3 196708859 196708964 - RNU6-646P snRNA 8 13 12 8 0 0 9 0 0 ENSG00000201442 chr6 17737458 17737556 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201443 chrX 108826764 108826869 + RNU6-309P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201444 chr9 117707996 117708102 - RNU6-1082P snRNA 10 9 18 2 0 1 0 0 4 ENSG00000201447 chrX 77066709 77066827 + RNA5SP509 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201448 chr1 36418450 36418578 - SNORA63C snoRNA 109616970 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 2 0 0 0 0 ENSG00000201451 chr9 133337728 133337824 - RF00019 misc_RNA 4 4 0 4 3 0 3 3 0 ENSG00000201452 chr3 175767558 175767661 + RNU6-1317P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201457 chr1 39567374 39567508 - SNORA55 snoRNA 677834 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 5 2 3 2 5 0 2 ENSG00000201458 chr3 172796429 172796558 - RNU4-4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201464 chr6 79301963 79302066 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201465 chr7 138187998 138188129 - RF00432 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201466 chr18 12760717 12760818 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201467 chrX 17044380 17044511 - RF00190 snoRNA 0 0 1 0 0 0 0 0 0 ENSG00000201469 chr12 132723945 132724057 - RNA5SP379 rRNA_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000201470 chr2 127798903 127798998 - RNY4P7 misc_RNA 0 0 1 0 3 0 0 0 0 ENSG00000201474 chr5 162477891 162477993 + RNU6-164P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201476 chr12 13440884 13441001 - RNA5SP353 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201482 chr15 25201323 25201404 + SNORD115-17 snoRNA 100033455 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201483 chr6 7187582 7187686 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201487 chr1 75789477 75789548 + SNORD45B snoRNA 26804 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201489 chr17 7537096 7537196 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201491 chr1 99784740 99784885 - RNU4-75P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201492 chr1 229549905 229550022 + RNA5SP78 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201493 chr1 218129795 218129952 + RNU1-141P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201496 chr4 5458581 5458881 - RN7SKP275 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201498 chr20 34384165 34384265 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201499 chr2 200881715 200881821 - RNU6-312P snRNA 0 0 1 1 0 0 1 0 0 ENSG00000201500 chr14 100977389 100977466 + RF00181 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201501 chr20 50563009 50563110 + RF00019 misc_RNA 0 0 0 0 0 1 0 0 0 ENSG00000201502 chr12 93266017 93266096 + RF00284 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201510 chr15 76736641 76736980 + RN7SKP217 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201511 chr3 101647421 101647522 + RF00019 misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000201512 chr20 38429670 38429803 - SNORA71C snoRNA 0 0 1 5 3 1 2 3 0 ENSG00000201516 chr4 176098163 176098285 + RF00432 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201517 chrX 48153980 48154074 - RNU6-707P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201518 chrX 129436530 129436647 - RNA5SP513 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201519 chr6 15324367 15324472 - RNU6-645P snRNA 1 0 0 0 2 0 2 3 0 ENSG00000201523 chr6 19438283 19438418 + RNA5SP205 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201524 chr17 59847438 59847544 - RNU6-450P snRNA 3 1 1 0 0 0 0 2 0 ENSG00000201527 chr20 23160857 23160971 - RNA5SP478 rRNA_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000201529 chr14 67617302 67617415 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201532 chr5 139012329 139012441 + RNA5SP194 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000201533 chr4 139685127 139685427 - RN7SKP237 misc_RNA 0 0 0 0 0 0 0 3 2 ENSG00000201535 chr11 118836010 118836111 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201541 chr16 24333415 24333547 - RF00408 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201542 chr1 35310274 35310425 + RF00091 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201544 chr1 212352816 212352950 + SNORA16B snoRNA 692157 GO:0005730, nucleolus, GO:0006396, RNA processing, 3 2 9 2 13 17 8 11 2 ENSG00000201545 chr3 19996803 19996925 + RNU4-85P snRNA 3 1 1 1 0 0 0 1 0 ENSG00000201547 chr17 67408774 67408881 - RF00019 misc_RNA 2 0 2 0 0 0 0 0 0 ENSG00000201548 chr10 88585638 88585733 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201549 chr12 7784403 7784511 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201550 chr3 131092821 131092927 - RNU6-726P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201554 chr3 101458530 101458626 + RF00019 misc_RNA 0 0 0 0 1 0 0 0 1 ENSG00000201555 chr6 31778817 31778905 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201557 chr14 100972670 100972741 + SNORD114-15 snoRNA 767593 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201558 chr1 146052081 146052244 - RNVU1-6 snRNA 101954276 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 5 0 0 0 0 2 ENSG00000201560 chr7 65859660 65859766 - RNU6-973P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201563 chr12 32705403 32705506 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201564 chr11 9680924 9681238 + RN7SKP50 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201565 chr7 67297653 67297754 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201566 chr7 37435115 37435216 + RF00019 misc_RNA 0 2 0 0 1 0 0 1 0 ENSG00000201567 chrX 95582064 95582162 + RNA5SP510 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201569 chr14 100974806 100974880 + SNORD114-17 snoRNA 767595 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201570 chr3 39970125 39970266 + RNU4-56P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201573 chr14 50468397 50468498 - RF00019 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000201574 chr2 231133462 231133630 + RNU1-93P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201579 chr12 56588518 56588621 + RNU6-343P snRNA 0 0 0 0 0 0 0 1 0 ENSG00000201581 chr10 6149623 6149940 + RN7SKP78 misc_RNA 4 4 4 7 3 3 6 0 5 ENSG00000201583 chr9 105096756 105097061 + RN7SKP191 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201584 chr2 121040610 121040710 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201586 chr11 17115652 17115763 - RNU6-593P snRNA 0 1 0 2 0 0 0 0 0 ENSG00000201588 chr1 228612509 228612627 - RNA5S2 rRNA 100169753 0 0 0 0 0 0 0 0 0 ENSG00000201591 chr11 39261107 39261213 + RNU6-99P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201592 chrX 20136306 20136385 - RF00494 snoRNA 0 0 0 0 0 0 0 3 0 ENSG00000201594 chrX 146427456 146427572 - RNA5SP517 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201595 chr3 51694465 51694582 - RNA5SP132 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201596 chr1 185634073 185634182 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201598 chr18 58805268 58805374 + RNU6-219P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201600 chr3 139584105 139584445 - RN7SKP124 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201602 chr1 248594925 248595033 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201604 chr10 90922731 90922835 - RNU6-740P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201607 chr7 95098227 95098367 + RNU4-16P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201608 chr1 160392768 160392909 - RNU4-42P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201609 chr1 19510593 19510733 + RNU4-28P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201610 chr2 11517397 11517503 + RNA5SP84 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201612 chr12 27806082 27806390 - RN7SKP15 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201613 chr6 126590287 126590393 - RNU6-200P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201616 chr11 3048359 3048521 - RNU1-91P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201618 chrX 53909054 53909161 + RNA5SP505 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201619 chr1 179201487 179201627 + RF00272 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201620 chr1 85883680 85883798 - RNA5SP51 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201622 chr3 197994601 197994709 + RNU6-621P snRNA 0 0 0 0 0 0 0 2 0 ENSG00000201623 chr5 33888056 33888162 - RNU6-923P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201624 chr12 33982465 33982566 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201627 chr8 105929126 105929238 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201628 chr6 150326623 150326763 - RNU4-7P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201633 chr4 83636196 83636290 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201634 chr15 25269783 25269858 + SNORD115-48 snoRNA 100033822 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201635 chr3 45903187 45903298 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201638 chr1 234837976 234838069 + RNY4P16 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201640 chr4 96348734 96349038 - RN7SKP28 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201641 chr4 77150328 77150437 - RNU6-1187P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201642 chr3 100952627 100952733 + RNU6-865P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201643 chr7 75943782 75943916 + SNORA14A snoRNA Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 1. [provided by RefSeq, Oct 2008]. 677801 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201644 chr4 75662120 75662213 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201648 chr3 175609479 175609613 + RNU4-91P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201649 chr2 200373175 200373269 + RNY4P34 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201654 chr14 32202045 32202151 + RNU6-7 snRNA 101954275 GO:0046540, GO:0005688, U4/U6 x U5 tri-snRNP complex, U6 snRNP, GO:0030621, U4 snRNA binding, GO:0000353, GO:0000244, formation of quadruple SL/U4/U5/U6 snRNP, spliceosomal tri-snRNP complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000201658 chr6 31370134 31370240 + RNU6-283P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201659 chrX 47132671 47132826 + RNU12-2P snRNA 0 0 0 0 0 3 0 0 0 ENSG00000201660 chrX 5410122 5410251 + RF00401 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201662 chr13 48987915 48988017 + RNU6-60P snRNA 0 1 0 0 3 0 0 0 3 ENSG00000201663 chr12 7850717 7850818 - RF00019 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000201665 chr13 56885284 56885602 - RN7SKP6 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201666 chrX 28924069 28924138 + RF00284 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201668 chr18 49871555 49871666 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201671 chr2 31228312 31228410 + RNA5SP90 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201672 chr14 100936491 100936565 + SNORD113-4 snoRNA 767564 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201674 chrX 113944186 113944399 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201675 chr19 49489965 49490048 + SNORD32A snoRNA 26819 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201676 chr4 59833175 59833276 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201679 chr15 25197576 25197656 + SNORD115-15 snoRNA 100033453 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201680 chr6 31496689 31496790 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201683 chr6 20500175 20500276 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201684 chr11 67362414 67362708 + RN7SKP239 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201687 chr11 113859346 113859449 + RNU6-1107P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201689 chr14 100990091 100990160 + SNORD114-29 snoRNA 767610 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201690 chr13 102016953 102017069 - RNY1P2 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201695 chr11 18266393 18266510 + RNA5SP334 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201699 chr1 149162783 149162944 - RNU1-59P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201700 chr14 100929919 100929990 + SNORD113-3 snoRNA 767563 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201701 chr3 32037526 32037653 + RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201704 chr15 59574103 59574222 - RNA5SP396 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201707 chr4 88201703 88201810 + RNU6-818P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201708 chr12 38163403 38163515 - RNA5SP359 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201709 chr15 65229861 65229967 + RNU6-686P snRNA 0 1 0 0 1 0 0 0 0 ENSG00000201710 chr14 100979992 100980066 + RF00181 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201711 chr9 77635203 77635309 - RNU6-1303P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201713 chr3 25025007 25025126 + RNA5SP125 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201715 chr5 17345616 17345955 + RN7SKP133 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201723 chr18 78544095 78544188 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201724 chr15 99681786 99681877 - RF00019 misc_RNA 3 2 1 0 0 0 0 0 0 ENSG00000201725 chr1 8883427 8883533 - RNU6-304P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201727 chr4 178406695 178406830 + RNA5SP173 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201728 chr20 23380896 23381012 - RNA5SP479 rRNA_pseudogene 0 3 0 0 0 0 0 0 0 ENSG00000201733 chr11 66432763 66432902 + RF00416 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201736 chr4 40990154 40990273 + RNA5SP160 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201737 chr2 200775584 200775750 + RNU1-133P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201741 chr17 17460444 17460522 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201742 chr20 47492978 47493085 - RNU6-563P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201744 chr4 96152297 96152403 - RNU6-34P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201746 chr1 10163268 10163374 + RNU6-828P snRNA 3 8 2 4 6 0 2 1 5 ENSG00000201747 chr7 7906519 7906624 + RNU6-534P snRNA 0 1 0 0 1 0 0 0 0 ENSG00000201749 chr9 114615455 114615568 - RF00019 misc_RNA 0 0 0 0 0 0 1 0 5 ENSG00000201752 chr4 116839279 116839385 + RNU6-119P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201754 chr6 31837076 31837142 + SNORD52 snoRNA 26797 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201756 chr11 76404140 76404252 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201758 chr1 244943910 244944216 + RN7SKP55 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201761 chr8 22434391 22434497 + RNU6-336P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201763 chr8 59455885 59456010 + RNA5SP267 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201766 chr10 14663395 14663494 - RNA5SP302 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201770 chr20 31581089 31581192 + RNU6-384P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201772 chr7 45104906 45105042 - SNORA5C snoRNA Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA5C, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]. 677796 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 1 4 0 0 0 1 9 ENSG00000201774 chr7 10901978 10902074 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201775 chr4 59834063 59834167 + RNU6-1325P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201778 chr3 157153548 157153640 + RF00019 misc_RNA 291 342 257 739 1091 1068 862 746 1027 ENSG00000201780 chr12 8484746 8484852 + RNU6-275P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201782 chr8 128220504 128220803 + RN7SKP226 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201785 chr6 31536374 31536449 - SNORD117 snoRNA 692233 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201786 chr4 153266909 153267010 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201788 chr12 44880868 44880969 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201789 chr1 146288596 146288696 + RNU6-1071P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201790 chr5 105922994 105923108 - RNA5SP189 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201791 chr1 178753654 178753772 - RF00092 snoRNA 0 0 0 0 0 2 0 0 0 ENSG00000201793 chr13 99205708 99206006 + RN7SKP9 misc_RNA 0 0 1 0 3 0 0 0 0 ENSG00000201794 chr7 2999094 2999394 + RN7SKP130 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201796 chr7 106208167 106208267 + RNU6-392P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201800 chr3 125516979 125517086 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201801 chr1 11909808 11909927 - RNU5E-4P snRNA 0 0 0 2 0 3 0 0 5 ENSG00000201805 chr2 113086805 113086911 + RNU6-1180P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201806 chr2 97664591 97664731 - RNU4-8P snRNA 0 0 0 0 0 2 0 0 0 ENSG00000201807 chr6 136855698 136855831 - RF00443 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201809 chr12 73764279 73764413 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201810 chr3 180542701 180542836 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201811 chr20 38442036 38442169 + RF00056 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201812 chr21 14070871 14070986 + RNA5SP488 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201813 chr2 195670372 195670474 - RNU6-915P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000201815 chr8 9371090 9371195 - RNU6-526P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201816 chr18 56079394 56079594 - RF00045 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201818 chr4 169005249 169005344 + RNY4P17 misc_RNA 0 0 0 1 0 0 1 2 0 ENSG00000201820 chr14 51253933 51254023 - RF00019 misc_RNA 0 1 0 0 0 0 2 0 1 ENSG00000201821 chr13 21038529 21038667 - RNU4-9P snRNA 0 0 0 2 2 0 0 2 0 ENSG00000201822 chr3 180161886 180161977 - RNA5SP149 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201823 chr6 31835263 31835326 + SNORD48 snoRNA 26801 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201825 chr18 47234442 47234548 - RNU6-1131P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201826 chrX 76244968 76245074 + RNU6-867P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201827 chr3 133551186 133551315 + RF00438 snoRNA 0 0 0 0 0 2 0 0 0 ENSG00000201830 chr9 97915690 97915796 + RF00019 misc_RNA 0 1 4 2 9 3 2 1 0 ENSG00000201831 chr15 25170723 25170804 + SNORD115-1 snoRNA This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008]. 338433 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201839 chr14 100953349 100953423 + SNORD114-3 snoRNA 767579 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201843 chr9 133302470 133302563 + RF00019 misc_RNA 0 0 0 0 0 1 0 0 0 ENSG00000201846 chr4 148557947 148558048 + RNA5SP166 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201847 chr13 107320895 107320963 - SNORD31B snoRNA 109616978 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201850 chr16 68089449 68089543 - RF00019 misc_RNA 0 2 0 0 0 0 0 0 3 ENSG00000201852 chr18 22180112 22180218 - RNU6-702P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201856 chr11 13907484 13907590 - RNA5SP331 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201860 chr3 191641135 191641237 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201861 chr10 282015 282125 - RNA5SP298 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201863 chr4 40082983 40083106 + RF00432 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201867 chr11 34189174 34189275 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201868 chr1 35195969 35196062 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201869 chr5 64573569 64573670 + RNU6-294P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201875 chr2 205900630 205900958 + RN7SKP178 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201876 chr2 73968123 73968206 - RNA5SP97 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201881 chr10 72654165 72654276 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201882 chrX 20136066 20136135 - RF00493 snoRNA 0 0 0 0 0 0 0 2 0 ENSG00000201884 chr10 121846600 121846700 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201885 chr7 77013583 77013684 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201892 chr2 140992543 140992659 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201894 chr19 31787148 31787255 - RNU6-967P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201896 chr8 119711830 119712145 - RN7SKP153 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000201898 chr1 224179641 224179767 + RF00139 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201899 chr14 100984777 100984848 + SNORD114-24 snoRNA 767604 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201900 chr1 114727720 114727824 + RNY1P13 misc_RNA 3 6 4 6 7 16 12 2 6 ENSG00000201901 chr4 85100496 85100823 + RN7SKP48 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201907 chr15 25239838 25239919 + SNORD115-38 snoRNA 100033812 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201909 chr12 13459670 13459776 - RNU6-590P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201910 chr5 104098874 104099038 + RNU1-140P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201912 chrX 145057108 145057437 + RN7SKP189 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201913 chr7 100330777 100330877 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201916 chr22 20481158 20481268 + RF00019 misc_RNA 1 0 0 0 0 0 0 0 2 ENSG00000201919 chr1 21987816 21987919 + RNU6-1022P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201920 chr17 41718154 41718260 + RNA5SP442 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201922 chr3 103159960 103160124 + RNU1-43P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201923 chr20 45559758 45559876 - RNA5SP485 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201925 chr1 228641568 228641686 - RNA5S15 rRNA 100169766 0 0 0 0 0 0 0 0 0 ENSG00000201931 chr4 177457111 177457228 - RNA5SP172 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000201933 chr7 43096732 43096844 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201938 chr9 96103079 96103174 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201939 chr6 153159220 153159345 - RNA5SP224 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201942 chr12 79878305 79878419 - RNA5SP363 rRNA_pseudogene 4 2 5 1 2 0 0 1 1 ENSG00000201943 chr15 25187536 25187616 + SNORD115-10 snoRNA 100033447 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201944 chr1 205731221 205731352 - RF00139 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201945 chr12 121107043 121107174 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201950 chr14 100945649 100945720 + SNORD113-9 snoRNA 767569 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201954 chr10 76260800 76260903 - RNU6-673P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000201955 chr5 79170234 79170335 - RNY3P1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201957 chr3 179169083 179169210 - RF00402 snoRNA 0 1 3 0 0 2 0 0 0 ENSG00000201959 chr7 77041647 77041748 + RF00019 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000201962 chr3 25352284 25352392 - RNA5SP126 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201965 chr3 38125292 38125394 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201966 chr19 24004358 24004507 - RNA5-8SP4 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201967 chr19 32862800 32863092 - RN7SKP22 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201968 chr3 126564565 126564678 - RNA5SP138 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000201969 chr15 25206262 25206343 + SNORD115-20 snoRNA 100033460 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201980 chr11 4756645 4756797 + RF00091 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000201984 chr21 29139283 29139384 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201987 chr1 164854231 164854332 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201988 chr6 30736304 30736414 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201990 chr7 6004283 6004385 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000201992 chr15 25234247 25234328 + SNORD115-35 snoRNA 100033809 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000201998 chr11 9428773 9428954 + SNORA23 snoRNA 677808 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 3 0 ENSG00000201999 chr16 66301809 66301940 + RNA5SP428 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202000 chr4 88000237 88000401 + RNU1-36P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202001 chr8 100755099 100755195 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202008 chr2 201423513 201423604 + RF00019 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000202014 chr4 48153434 48153535 + RF00019 misc_RNA 1 1 0 0 0 0 0 0 0 ENSG00000202016 chr2 222498291 222498398 + RNU6-619P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202017 chr5 60304047 60304151 - RNU6-806P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202019 chr22 31230071 31230172 - RF00019 misc_RNA 19 24 28 234 293 800 450 259 789 ENSG00000202021 chr7 75325959 75326060 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202023 chr7 137287687 137287762 + RF00136 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202024 chrX 101325404 101325510 + RNU6-934P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202025 chr1 186311825 186311928 - RNU6-1240P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202026 chr17 31713753 31713853 + RNU6-1134P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202027 chr1 155120490 155120598 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202029 chr2 159027036 159027142 - RNU6-580P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202031 chr1 44777843 44777912 + SNORD38A snoRNA 94162 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202034 chr12 62545582 62545679 - RNU6-399P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000202035 chr7 73403788 73403889 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202039 chr7 5180061 5180162 + RNU6-215P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202041 chr1 240154651 240154772 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202044 chr6 152410275 152410394 + RNA5SP223 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202046 chr2 120192245 120192357 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202047 chr10 96619376 96619483 + RNA5SP324 rRNA_pseudogene 0 0 0 1 4 3 4 3 0 ENSG00000202048 chr14 100981004 100981075 + SNORD114-20 snoRNA 767598 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202050 chr6 24365651 24365754 + RNU6-391P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202051 chrX 147827279 147827384 + RNU6-382P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202054 chr4 8393015 8393124 + RNA5SP152 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202056 chr1 228555793 228555901 + RNA5SP19 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202058 chr22 42565048 42565330 - RN7SKP80 misc_RNA 0 0 4 2 2 6 6 1 0 ENSG00000202059 chr2 203052285 203052418 - RF00408 snoRNA 1 0 1 0 0 0 0 0 0 ENSG00000202060 chr18 44071583 44071701 + RNA5SP455 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202063 chr1 230820250 230820358 + RNA5SP79 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202069 chr6 71652474 71652611 - RNU4-66P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202070 chr11 70075363 70075469 + RNU6-1175P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202071 chr3 66003839 66003940 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202074 chr2 147495438 147495540 - RNU6-715P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202078 chr1 160326104 160326216 - RF00019 misc_RNA 8 6 15 2 12 14 10 3 1 ENSG00000202079 chr1 247294835 247294941 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202081 chr15 85651522 85651628 - RNU6-1280P snRNA 2 0 1 1 4 0 5 1 0 ENSG00000202082 chr5 126553302 126553402 - RNU6-290P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202089 chr11 63882587 63882685 - RNU6-1306P snRNA 0 1 0 0 0 0 0 0 0 ENSG00000202092 chr5 119445716 119445833 + RNA5SP190 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202093 chr18 49489245 49489308 - SNORD58C snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202095 chr8 96431054 96431160 - RNU6-1172P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202099 chr2 238412642 238412745 + RNU6-234P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202100 chr17 32463374 32463482 - RF00019 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000202103 chr6 85993021 85993159 - RNU4-12P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202111 chr5 140718925 140719013 + VTRNA1-2 misc_RNA 56663 0 0 0 0 1 0 0 0 0 ENSG00000202112 chr8 95599114 95599219 + RNU6-690P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202119 chr6 150939222 150939328 + RNU6-302P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202124 chr16 50098264 50098358 + RNY4P3 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202125 chr3 142420205 142420369 - RNU1-100P snRNA 1 0 0 2 3 0 0 1 0 ENSG00000202137 chr2 201808681 201808782 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202141 chr2 183022859 183022971 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202142 chr14 100975825 100975896 + SNORD114-18 snoRNA 767596 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202144 chrX 19376774 19376875 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202146 chr12 54099191 54099302 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202147 chr11 6016996 6017114 + RNA5SP329 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202150 chr20 35030317 35030420 - RNU6-407P snRNA 3 3 4 0 6 0 0 4 0 ENSG00000202151 chr13 60187738 60187830 - RNY4P28 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202157 chr5 83803554 83803685 + RNU4-11P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202159 chr18 57755394 57755500 + RNU6-742P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202160 chr2 15864935 15865051 + RNU5E-7P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202164 chr2 208920547 208920664 - RNA5SP117 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202167 chr1 143652050 143652215 - RNU1-114P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202169 chr4 61906313 61906408 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202172 chr9 558826 558930 + RNU6-1327P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202174 chr2 132253154 132253305 - RNA5-8SP5 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202175 chr3 33491983 33492098 - RNA5SP128 rRNA_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000202177 chr3 101955077 101955185 + RF00019 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000202182 chr14 63848261 63848362 - RF00019 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000202183 chrX 82561201 82561347 + RF00394 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202184 chr1 246189014 246189118 - RNU6-1283P snRNA 0 0 0 0 0 3 0 0 0 ENSG00000202186 chr20 47484278 47484381 - RNU6-497P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202187 chr12 28505394 28505528 + RNA5SP355 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202188 chr15 25227109 25227190 + SNORD115-31 snoRNA 100033805 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202189 chr9 20786927 20787055 + SNORA30B snoRNA 109616992 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202190 chr10 60081741 60081854 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202191 chr14 100924824 100924892 + SNORD113-1 snoRNA Small nucleolar RNAs (snoRNAs), like SNORD113-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD113-1 is 1 of 9 tandem SNORD113 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]. 767561 0 0 0 0 0 0 0 0 0 ENSG00000202193 chr16 53337453 53337571 + RNA5SP427 rRNA_pseudogene 1 1 0 0 1 0 3 2 1 ENSG00000202195 chr2 52297995 52298096 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202198 chr6 52995620 52995950 + RF00100 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202199 chrX 133238657 133238816 - RNU1-115P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202200 chr6 128761717 128761808 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202205 chr17 29445300 29445400 - RNU6-1034P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202206 chr2 195514036 195514142 + RNU6-169P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202211 chr15 43247680 43247781 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202215 chr4 189709539 189709714 - RNU1-51P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202216 chr2 179934402 179934527 - RF00560 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202217 chr9 74799895 74800222 + RN7SKP47 misc_RNA 0 0 0 0 2 3 0 1 2 ENSG00000202222 chr1 39881566 39881678 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202224 chr18 2621090 2621201 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202225 chr7 120981426 120981553 - RNA5SP240 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202227 chr2 48501922 48502024 - RNU6-282P snRNA 1 0 0 0 0 0 0 1 0 ENSG00000202229 chr14 23156309 23156414 - RNU6-1138P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202231 chrX 100822620 100822752 - RF00411 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202233 chr7 25264656 25264882 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202237 chr13 28703702 28703807 - RNU6-53P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000202239 chr21 46525618 46525722 + RNU6-396P snRNA 0 1 0 0 0 0 0 0 0 ENSG00000202240 chr18 57284602 57284708 - RNU6-737P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202241 chr6 30864250 30864552 + RN7SKP186 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202242 chr8 27773645 27773748 + RNU6-1276P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202245 chr10 122345690 122345793 + RNU6-728P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202248 chr2 11561661 11561779 - RNA5SP85 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000202249 chr12 101466705 101466820 + RNU5E-5P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202251 chr17 7266055 7266166 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202252 chr11 123059335 123059422 - SNORD14C snoRNA 85389 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202254 chr1 99791662 99791753 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202255 chr20 36668559 36668670 - RF00019 misc_RNA 1 1 1 4 7 7 0 1 0 ENSG00000202257 chr1 228643809 228643927 - RNA5S16 rRNA 100169767 0 0 0 0 0 0 0 0 0 ENSG00000202259 chr1 100000637 100000739 - RNU6-1318P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202260 chr20 17576206 17576510 - RN7SKP69 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202261 chr15 25250859 25250940 + SNORD115-44 snoRNA 100033818 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202263 chr1 78094807 78094915 - RNA5SP22 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202264 chr1 227561181 227561300 + RNA5SP77 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202265 chr8 57289552 57289649 + RNU6-596P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202268 chr3 45255409 45255620 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202269 chr5 15110786 15110920 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202270 chr14 100968948 100969022 + SNORD114-12 snoRNA 767590 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202272 chrX 23782210 23782310 + RF00019 misc_RNA 2 3 0 291 53 105 339 42 97 ENSG00000202273 chr7 6212638 6212740 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202275 chr14 103797272 103797348 - RF00280 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202276 chr11 8877417 8877518 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202279 chrX 136816477 136816574 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202281 chr7 83017898 83018011 + RNA5SP235 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202283 chr6 103583135 103583268 + RF00438 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202285 chr6 106738948 106739054 - RNU6-117P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202290 chr13 97362972 97363101 - RNA5SP37 rRNA_pseudogene 0 0 1 0 0 1 0 0 1 ENSG00000202293 chr14 100982926 100982997 + SNORD114-22 snoRNA 767600 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202296 chr7 56340231 56340337 - RNU6-1335P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202297 chr10 92334463 92334564 + RNY3P12 misc_RNA 1 1 1 1 0 0 0 0 0 ENSG00000202300 chr1 203318996 203319099 - RNU6-487P snRNA 0 1 0 2 5 2 3 0 0 ENSG00000202304 chrX 130310072 130310178 - RNU6-1130P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202306 chr14 93397139 93397234 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202308 chr9 107663140 107663246 - RNU6-996P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202309 chr2 39128826 39128927 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202310 chr8 100158868 100158975 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202313 chr6 11503509 11503671 - RNU1-64P snRNA 0 2 0 0 0 0 0 0 0 ENSG00000202314 chr11 93731502 93731574 - SNORD6 snoRNA 692075 GO:0005730, nucleolus, GO:0006396, RNA processing, 23 20 9 6 1 0 3 0 8 ENSG00000202317 chr11 66393449 66393612 + RNU1-84P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202318 chr12 6234345 6234455 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202322 chr3 50419781 50419899 + RNA5SP131 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202324 chr12 99083783 99083905 - RNA5SP366 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202329 chr1 200014689 200014795 - RNU6-609P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202331 chr4 149907560 149907675 + RNA5SP167 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202332 chr17 75431990 75432087 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202334 chr7 114613787 114613906 - RNA5SP238 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202335 chr12 110496352 110496421 - RF00278 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202336 chr16 68017710 68017817 - RNU6-359P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000202337 chr14 32203163 32203269 - RNU6-8 snRNA 101954278 0 0 0 0 0 0 0 0 0 ENSG00000202339 chr21 22205192 22205332 + RNU4-45P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202341 chr2 237015204 237015305 - RNU6-1051P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202343 chr6 149594625 149594759 + RF00410 snoRNA 2 6 3 0 0 1 0 3 7 ENSG00000202344 chr2 55951654 55952014 - RN7SKP208 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202345 chr5 168791498 168791610 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202347 chr13 113478915 113479078 - RNU1-16P snRNA 0 2 7 1 0 0 1 0 2 ENSG00000202350 chr7 45843634 45843740 + RNU6-326P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202351 chr6 13547704 13548013 + RN7SKP204 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202354 chr7 148983755 148983856 + RNY3 misc_RNA 6085 0 0 0 0 0 0 0 0 0 ENSG00000202356 chr8 119891132 119891229 - RNA5SP277 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202357 chr19 11408772 11408880 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202358 chr4 55885595 55885701 + RNU6-652P snRNA 1 2 1 0 2 0 0 0 0 ENSG00000202360 chr8 101137959 101138313 + RN7SKP249 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202361 chr17 61874084 61874182 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202363 chr3 39411054 39411206 + SNORA62 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202368 chr12 96979528 96979629 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202373 chr15 25249198 25249279 + SNORD115-43 snoRNA 100033817 0 0 0 0 0 0 0 0 0 ENSG00000202374 chr4 67747236 67747386 + RF00091 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202377 chr7 115581315 115581442 - SNORA25B snoRNA 109623459 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202379 chr3 108574565 108574698 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202380 chr20 5890055 5890212 + RNU1-55P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202382 chr2 85367585 85367686 + RF00019 misc_RNA 0 1 0 0 0 1 0 0 0 ENSG00000202383 chr9 1333837 1333953 + RNA5SP279 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202385 chr1 89020246 89020365 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202386 chr6 106449381 106449497 + RNA5SP211 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202388 chr3 122025195 122025304 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202389 chr17 28022330 28022464 - RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202392 chr4 6997012 6997328 + RN7SKP292 misc_RNA 1 1 3 2 5 13 3 2 2 ENSG00000202395 chr13 37166352 37166658 - RN7SKP1 misc_RNA 5 2 9 12 4 6 8 6 16 ENSG00000202398 chr13 80369426 80369534 - RNU6-61P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202399 chr8 97772313 97772425 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202400 chr2 231460371 231460440 - SNORD82 snoRNA The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM, Mar 2008]. 25826 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202402 chr14 31244761 31244861 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202406 chr7 112288623 112288952 + RN7SKP187 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202407 chrX 106426568 106426669 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202408 chr1 148334612 148334767 - RNU1-122P snRNA 0 0 0 0 0 0 0 0 1 ENSG00000202410 chrX 94178005 94178106 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202411 chr8 28530411 28530519 + RNA5SP259 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202412 chr3 129818932 129819033 + RNY3P13 misc_RNA 0 0 2 1 9 6 0 3 7 ENSG00000202414 chr20 25214698 25214798 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202415 chr1 9947318 9947636 + RN7SKP269 misc_RNA 2 4 5 0 2 0 2 3 2 ENSG00000202417 chr5 132945342 132945454 + RF00019 misc_RNA 0 0 1 3 12 5 5 6 3 ENSG00000202422 chr13 57991350 57991464 + RNA5SP30 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000202423 chr2 78882447 78882552 + RNU6-827P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202427 chr2 113681111 113681217 + RNU6-744P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202428 chr3 57536252 57536358 - RNU6-108P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202429 chr2 127472234 127472415 + RNU4-48P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202430 chr2 24564630 24564738 - RNA5SP88 rRNA_pseudogene 0 0 0 0 0 0 0 0 5 ENSG00000202431 chr7 34297496 34297598 - RNU6-438P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202433 chr13 70459464 70459570 + RNU6-54P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202434 chr2 197404718 197404854 + RF00394 snoRNA 0 1 3 2 2 0 0 0 0 ENSG00000202438 chr6 130573996 130574112 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202440 chr4 82402638 82402706 - RF00150 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202441 chr6 33199601 33199696 + RNY4P10 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202444 chr1 44819883 44819997 - RNU5E-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202445 chr9 94507738 94507844 + RNU6-669P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202449 chr4 14690710 14690832 + RF00092 snoRNA 0 0 0 4 0 0 0 0 0 ENSG00000202459 chr14 102695388 102695495 + RF00019 misc_RNA 2 0 0 0 0 0 0 0 0 ENSG00000202461 chr1 12024012 12024124 - RF00019 misc_RNA 0 0 4 0 4 6 4 1 8 ENSG00000202468 chr18 60163567 60163707 + RNU4-17P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202469 chrX 10061222 10061323 + RF00019 misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000202470 chr12 95275770 95275872 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202471 chr12 59586793 59586943 - RNU4-20P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202472 chr7 140386781 140386907 - RNA5SP248 rRNA_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000202473 chrX 143090347 143090677 + RN7SKP81 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202474 chr9 62802320 62802438 - RNA5SP283 rRNA_pseudogene 1 6 14 11 5 7 6 8 4 ENSG00000202476 chr16 30453997 30454097 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202478 chr13 63783801 63783904 + RNU6-81P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202479 chr2 24969388 24969477 - RF00016 snoRNA 0 0 0 0 0 4 0 0 2 ENSG00000202485 chr4 82174547 82174653 + RNU6-499P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202490 chr14 63618043 63618144 + RNU6-597P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202491 chr1 200008505 200008607 - RNU6-716P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202495 chrX 50171197 50171297 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202497 chr16 69007052 69007155 - RNU6-898P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202498 chr1 215630026 215630117 - RF00108 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202499 chr15 25236085 25236166 + SNORD115-36 snoRNA 100033810 0 0 0 0 0 0 0 0 0 ENSG00000202502 chr3 183258300 183258416 - RNA5SP151 rRNA_pseudogene 0 1 5 3 1 7 5 2 0 ENSG00000202503 chr19 49490904 49490974 + SNORD34 snoRNA 26817 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202508 chr10 13511206 13511313 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202512 chr5 109699500 109699834 - RN7SKP230 misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000202513 chr10 72391964 72392069 + RNU6-805P snRNA 1 0 0 0 0 4 0 0 2 ENSG00000202514 chr8 42949388 42949495 - RF00019 misc_RNA 1 3 0 3 0 0 1 6 0 ENSG00000202515 chr5 140726158 140726246 + VTRNA1-3 misc_RNA 56662 0 0 0 0 0 0 0 0 0 ENSG00000202517 chr3 40238608 40238741 + RF00264 snoRNA 0 0 3 0 0 3 0 0 2 ENSG00000202521 chr1 228623667 228623785 - RNA5S7 rRNA 100169758 0 0 0 0 0 0 0 0 0 ENSG00000202522 chr11 72766004 72766116 + RF00019 misc_RNA 7 6 12 3 1 3 2 0 0 ENSG00000202523 chr9 83992932 83993033 + RF00019 misc_RNA 0 0 1 6 0 0 0 1 4 ENSG00000202526 chr1 228637096 228637214 - RNA5S13 rRNA 100169764 0 0 0 0 0 0 0 0 0 ENSG00000202528 chr7 149033057 149033167 + RNU6-650P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000202529 chr15 66502020 66502091 - SNORD18B snoRNA 595099 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000202532 chr2 127845236 127845341 + RNU6-395P snRNA 1 2 1 0 3 4 0 0 2 ENSG00000202533 chr5 132468147 132468257 + RF00019 misc_RNA 12 10 9 8 30 19 12 12 14 ENSG00000202534 chr12 92952639 92952745 + RNU6-1329P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000202536 chr4 112755816 112755917 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202537 chr2 86347062 86347195 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000202538 chr12 120291763 120291903 - RNU4-2 snRNA 26834 GO:0046540, GO:0005687, U4/U6 x U5 tri-snRNP complex, U4 snRNP, GO:0017070, U6 snRNA binding, GO:0000353, GO:0000244, formation of quadruple SL/U4/U5/U6 snRNP, spliceosomal tri-snRNP complex assembly, 0 0 0 1 3 0 0 2 0 ENSG00000202542 chr15 48325558 48325671 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000202560 chr14 101047321 101047398 + MIR539 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 664612 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000202566 chrX 74218377 74218461 - MIR421 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693122 GO:0005615, extracellular space, 0 2 2 1 1 1 4 1 2 ENSG00000202569 chr10 102436512 102436584 + MIR146B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574447 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0032700, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-17 production, 0 0 0 0 0 0 0 0 0 ENSG00000202601 chr5 59703606 59703703 - MIR582 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693167 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000202609 chr1 177029363 177029445 - MIR488 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574441 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0050728, GO:0035195, GO:0035195, GO:0032720, GO:0032717, GO:0032691, negative regulation of inflammatory response, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interleukin-1 beta production, 0 0 0 0 0 0 0 0 0 ENSG00000203258 chr11 12921186 12922925 - AC013549.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203262 chrX 96070669 96071778 - AL137845.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203266 chr20 57114915 57122092 + AL157414.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000203279 chr9 97200475 97238700 - AL590705.1 lincRNA 0 0 3 2 0 0 7 0 0 ENSG00000203280 chr22 25102433 25112692 - AL022323.1 antisense 100128531 0 0 0 0 0 0 0 0 0 ENSG00000203286 chr9 128745857 128746138 - RF00017 misc_RNA 5 9 1 1 8 0 3 10 2 ENSG00000203288 chr1 151790804 151794402 + TDRKH-AS1 antisense 109729141 0 0 0 0 0 0 1 4 0 ENSG00000203307 chr1 166081183 166087483 + AL626787.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203321 chr9 74952968 74996293 + C9orf41-AS1 antisense 1 3 4 0 0 2 0 1 0 ENSG00000203325 chr1 32052291 32073474 - AL445248.1 antisense 1 7 4 11 8 12 9 5 9 ENSG00000203326 chr19 53365693 53392217 + ZNF525 protein_coding 170958 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 20 5 36 63 18 56 52 17 66 ENSG00000203327 chr2 55214387 55216126 - AC012358.1 antisense 1 2 2 6 0 0 1 4 4 ENSG00000203334 chr11 108957718 108959797 + AP003027.1 lincRNA 0 0 0 0 0 0 0 0 4 ENSG00000203335 chr7 154055585 154059561 - AC006019.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203356 chr1 51195095 51235096 - LINC01562 lincRNA 105378716 2 0 0 2 1 0 0 0 0 ENSG00000203362 chr6 43588230 43591362 - POLH-AS1 antisense 3 0 0 3 3 1 1 4 0 ENSG00000203363 chr2 85686053 85687047 - AC012454.1 processed_pseudogene 1 2 4 0 2 0 2 1 0 ENSG00000203364 chr9 93147040 93148556 + AL390760.1 lincRNA 0 0 2 0 0 0 0 3 0 ENSG00000203387 chr2 228352120 228353215 - AC074019.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203392 chr15 75678548 75680752 + AC105020.1 antisense 0 0 0 2 0 0 0 1 0 ENSG00000203395 chr2 68361214 68365584 - AC015969.1 antisense 6 6 8 60 79 114 81 32 130 ENSG00000203396 chr9 104328320 104329396 - AL512646.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203397 chrX 74066083 74066592 + AL139400.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203402 chrX 47297852 47298721 + AL591503.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000203408 chr12 55376742 55378797 - OR6C71P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203411 chr15 75120265 75120562 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000203413 chr8 84948585 84949674 + ACTBP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203414 chr10 13156684 13158136 - BTBD7P1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000203416 chr22 17213516 17214155 + FAM32BP processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000203434 chr10 108547975 108561815 - AL353740.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000203435 chr2 195994259 195995680 - E2F3P2 processed_pseudogene 7 2 1 8 11 0 4 4 5 ENSG00000203436 chr4 9711953 9712233 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000203437 chr12 31465062 31465842 + AC022080.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203441 chr13 99499727 99501052 - LINC00449 antisense 106478991 5 0 0 0 2 3 0 0 0 ENSG00000203446 chr7 40538127 40546928 - AC004988.1 antisense 0 0 0 0 2 7 2 0 0 ENSG00000203462 chr7 56322804 56323601 + AC093392.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203469 chr1 10458555 10459338 + AL354956.1 antisense 2 0 2 7 3 0 4 3 6 ENSG00000203472 chr16 75475896 75495407 + AC009163.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203485 chr14 104689606 104722535 + INF2 protein_coding This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]. 64423 GO:0048471, perinuclear region of cytoplasm, GO:0031267, GO:0003779, small GTPase binding, actin binding, GO:0090140, GO:0030036, regulation of mitochondrial fission, actin cytoskeleton organization, 29 15 37 93 31 63 59 28 41 ENSG00000203489 chr6 75319101 75319980 - HMGB1P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203492 chr6 29137410 29142934 - AL645937.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203496 chr10 38453181 38466176 + AL133216.1 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000203497 chr10 110869868 110872233 - PDCD4-AS1 antisense 257 371 435 123 283 206 160 267 195 ENSG00000203498 chr6 6993191 6995554 + AL139390.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000203499 chr8 143734140 143790644 + IQANK1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000203506 chr3 29526251 29642809 - RBMS3-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203520 chr11 63616308 63621671 + AP000753.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203523 chr7 12491095 12492004 + TAS2R2P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203527 chr22 43275955 43283830 + Z99756.1 antisense 101927447 0 0 0 0 0 0 0 0 0 ENSG00000203531 chr2 222698623 222699484 - AC104772.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203546 chr14 31334312 31457441 - AL139353.1 protein_coding 0 0 0 0 1 3 0 0 2 ENSG00000203560 chr11 5104153 5105084 + OR52J1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203565 chr10 33684755 33687064 + AL450313.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000203573 chr15 40585454 40585751 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000203581 chr16 3215611 3216543 + OR1F2P unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26184 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 1 2 0 0 0 1 2 0 ENSG00000203585 chr12 67443105 67590771 + LINC02408 lincRNA 100507175 0 0 0 0 0 0 0 0 0 ENSG00000203588 chrX 70163842 70165206 - IGBP1-AS1 antisense 1 11 2 13 20 23 14 13 5 ENSG00000203593 chr12 2004666 2011392 + AC005342.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203601 chr1 168903905 169087005 - LINC00970 lincRNA 101978719 0 0 0 0 0 0 0 0 0 ENSG00000203605 chr1 63139250 63163153 + AC096543.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000203616 chr21 13936993 13937325 - RHOT1P2 processed_pseudogene 1 0 1 1 0 1 0 0 0 ENSG00000203618 chr22 19722945 19724771 + GP1BB protein_coding Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]. 2812 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0004888, identical protein binding, protein binding, transmembrane signaling receptor activity, GO:0030168, GO:0030168, GO:0007597, GO:0007596, GO:0007166, GO:0007155, platelet activation, platelet activation, blood coagulation, intrinsic pathway, blood coagulation, cell surface receptor signaling pathway, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000203620 chr1 31842019 31855568 - AL354919.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000203635 chr2 1620510 1625419 - AC144450.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000203643 chr2 11721619 11724222 - AC012456.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203644 chr3 129847048 129847957 - AC083799.1 sense_intronic 946 955 1101 389 877 623 522 679 743 ENSG00000203645 chr3 177294442 177323418 + LINC00501 lincRNA 100820709 0 0 1 1 0 0 0 0 0 ENSG00000203647 chr3 66008770 66009200 - AC106827.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203648 chr12 2659937 2660969 + AC007618.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203650 chrX 118839554 118919669 + LINC01285 lincRNA 101928287 0 0 0 0 0 0 0 0 0 ENSG00000203661 chr1 248488589 248491113 + OR2T5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401993 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000203663 chr1 248030070 248042305 + OR2L2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26246 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, GO:0003674, olfactory receptor activity, G protein-coupled receptor activity, molecular_function, GO:0050911, GO:0008150, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, biological_process, G protein-coupled receptor signaling pathway, 0 0 0 3 0 0 0 0 0 ENSG00000203664 chr1 247488093 247492415 + OR2W5 transcribed_unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene has a coding sequence that is comparable in length to other olfactory receptor genes, but it should be noted that a frameshift is present in the 3' coding region that disrupts the 7-transmembrane domain structure in the protein. It is unclear if the protein can function as an olfactory receptor or if an alternate function is served. For this reason, this gene has also been interpreted to be a pseudogene. [provided by RefSeq, Jan 2010]. 441932 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000203666 chr1 244969705 245127164 + EFCAB2 protein_coding The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]. 84288 GO:0097228, GO:0005856, GO:0005737, sperm principal piece, cytoskeleton, cytoplasm, GO:0005509, calcium ion binding, 65 60 75 59 57 58 75 41 45 ENSG00000203667 chr1 244835322 244845057 + COX20 protein_coding This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. 116228 GO:0016021, GO:0005743, GO:0005739, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0033617, GO:0033617, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, 728 742 779 1190 1028 1483 1560 688 1254 ENSG00000203668 chr1 241628853 241640254 - CHML protein_coding The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]. 1122 GO:0005968, GO:0005968, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, Rab-protein geranylgeranyltransferase complex, Rab-protein geranylgeranyltransferase complex, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0031267, GO:0031267, GO:0031267, GO:0005096, GO:0005092, small GTPase binding, small GTPase binding, small GTPase binding, GTPase activator activity, GDP-dissociation inhibitor activity, GO:0043687, GO:0043547, GO:0018344, GO:0018344, GO:0018344, GO:0016192, GO:0007264, GO:0006886, post-translational protein modification, positive regulation of GTPase activity, protein geranylgeranylation, protein geranylgeranylation, protein geranylgeranylation, vesicle-mediated transport, small GTPase mediated signal transduction, intracellular protein transport, 26 24 40 77 45 134 63 38 47 ENSG00000203684 chr1 228164086 228165512 - IBA57-DT lincRNA 574432 2 2 0 10 5 27 8 6 8 ENSG00000203685 chr1 226548800 226609214 + STUM protein_coding 375057 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 1 0 1 5 13 0 1 1 ENSG00000203688 chr6 167679626 167696290 - LINC02487 lincRNA 441178 0 0 0 0 0 0 0 0 0 ENSG00000203690 chr6 167357031 167384510 - TCP10 protein_coding 6953 GO:0005829, GO:0005814, GO:0005634, cytosol, centriole, nucleus, GO:0003714, transcription corepressor activity, GO:1903507, negative regulation of nucleic acid-templated transcription, 0 0 0 1 0 0 0 0 0 ENSG00000203697 chr1 223538007 223665734 - CAPN8 protein_coding 388743 GO:0005794, GO:0005737, Golgi apparatus, cytoplasm, GO:0005509, GO:0004198, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, GO:0007586, GO:0006508, digestion, proteolysis, 0 0 0 0 0 3 0 0 0 ENSG00000203705 chr1 212791828 212816626 + TATDN3 protein_coding 128387 GO:0005634, nucleus, GO:0046872, GO:0004518, metal ion binding, nuclease activity, GO:0090305, nucleic acid phosphodiester bond hydrolysis, 163 142 149 97 191 120 106 190 86 ENSG00000203706 chr1 210231456 210234047 - SERTAD4-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203709 chr1 207801518 207879096 - MIR29B2CHG lincRNA 3525 5411 4092 1619 4474 3322 2734 3348 2757 ENSG00000203710 chr1 207496147 207641765 + CR1 protein_coding This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]. 1378 GO:0101003, GO:0070062, GO:0044853, GO:0030667, GO:0009986, GO:0005887, GO:0005886, ficolin-1-rich granule membrane, extracellular exosome, plasma membrane raft, secretory granule membrane, cell surface, integral component of plasma membrane, plasma membrane, GO:0004877, GO:0001861, GO:0001855, GO:0001851, GO:0001618, complement component C3b receptor activity, complement component C4b receptor activity, complement component C4b binding, complement component C3b binding, virus receptor activity, GO:1904669, GO:1900099, GO:1900005, GO:1900004, GO:0046718, GO:0045959, GO:0045957, GO:0045918, GO:0045916, GO:0045591, GO:0045589, GO:0045087, GO:0043312, GO:0042130, GO:0032703, GO:0032689, GO:0030449, GO:0007009, GO:0006958, GO:0002638, GO:0002435, GO:0002430, GO:0001971, ATP export, negative regulation of plasma cell differentiation, positive regulation of serine-type endopeptidase activity, negative regulation of serine-type endopeptidase activity, viral entry into host cell, negative regulation of complement activation, classical pathway, negative regulation of complement activation, alternative pathway, negative regulation of cytolysis, negative regulation of complement activation, positive regulation of regulatory T cell differentiation, regulation of regulatory T cell differentiation, innate immune response, neutrophil degranulation, negative regulation of T cell proliferation, negative regulation of interleukin-2 production, negative regulation of interferon-gamma production, regulation of complement activation, plasma membrane organization, complement activation, classical pathway, negative regulation of immunoglobulin production, immune complex clearance by erythrocytes, complement receptor mediated signaling pathway, negative regulation of activation of membrane attack complex, 4705 4574 6967 2189 3122 3264 2808 2263 2952 ENSG00000203711 chr6 158869939 158919105 + C6orf99 lincRNA 100130967 1 0 5 7 5 3 6 12 7 ENSG00000203721 chr1 200253419 200400705 - LINC00862 lincRNA 554279 GO:0016021, integral component of membrane, 16 7 33 9 15 54 18 16 35 ENSG00000203722 chr6 149916878 149923121 - RAET1G protein_coding This gene encodes a member of the major histocompatibility complex (MHC) class I family of proteins. Although the encoded protein includes C-terminal transmembrane and cytoplasmic domains, proteolytic processing results in the removal of these domains and subsequent tethering to the plasma membrane by a glycosylphosphatidylinositol (GPI)-anchor. The encoded protein is one of several related ligands of the natural killer group 2, member D (NKG2D) receptor, which functions as an activating receptor in innate and adaptive immunity. This gene is present in a gene cluster on chromosome 6. [provided by RefSeq, Jul 2015]. 353091 GO:0031225, GO:0016021, GO:0009897, GO:0005886, GO:0005886, GO:0005783, GO:0005615, GO:0005576, anchored component of membrane, integral component of membrane, external side of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, extracellular space, extracellular region, GO:0046703, GO:0005515, natural killer cell lectin-like receptor binding, protein binding, GO:0042267, GO:0016032, GO:0006955, GO:0002729, natural killer cell mediated cytotoxicity, viral process, immune response, positive regulation of natural killer cell cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000203724 chr1 197902647 197907367 + C1orf53 protein_coding 388722 0 0 0 0 0 0 0 0 0 ENSG00000203727 chr6 147508927 147737547 + SAMD5 protein_coding 389432 GO:0005737, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000203729 chr1 182407621 182414815 + LINC00272 lincRNA 388719 0 5 1 3 7 5 3 1 0 ENSG00000203730 chr1 182398117 182400616 - TEDDM1 protein_coding 127670 GO:0016021, integral component of membrane, 19 8 6 12 13 15 8 30 31 ENSG00000203733 chr6 142133090 142135151 + GJE1 protein_coding 100126572 GO:0016021, GO:0005922, integral component of membrane, connexin complex, GO:0005243, gap junction channel activity, GO:0055085, GO:0035265, GO:0007267, GO:0002088, GO:0000902, transmembrane transport, organ growth, cell-cell signaling, lens development in camera-type eye, cell morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000203734 chr6 138795926 138904070 + ECT2L protein_coding 345930 GO:0005085, guanyl-nucleotide exchange factor activity, 1 4 0 3 6 4 2 3 0 ENSG00000203737 chr1 174448111 174449198 + GPR52 protein_coding Members of the G protein-coupled receptor (GPR) family play important roles in signal transduction from the external environment to the inside of the cell.[supplied by OMIM, Jul 2002]. 9293 GO:0005887, integral component of plasma membrane, GO:0008020, GO:0005515, GO:0004930, G protein-coupled photoreceptor activity, protein binding, G protein-coupled receptor activity, GO:0071482, GO:0042493, GO:0009584, GO:0007626, GO:0007602, GO:0007186, cellular response to light stimulus, response to drug, detection of visible light, locomotory behavior, phototransduction, G protein-coupled receptor signaling pathway, 4 7 5 10 1 13 7 1 17 ENSG00000203739 chr1 173417793 173461362 - AL645568.1 antisense 101928673 30 23 54 42 36 60 58 28 49 ENSG00000203740 chr1 170146001 170167790 + METTL11B protein_coding 149281 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0071885, GO:0008168, N-terminal protein N-methyltransferase activity, methyltransferase activity, GO:0006480, N-terminal protein amino acid methylation, 0 0 0 0 0 0 0 0 0 ENSG00000203747 chr1 161541759 161550737 - FCGR3A protein_coding This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]. 2214 GO:0070062, GO:0009897, GO:0005887, GO:0005886, extracellular exosome, external side of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0019864, GO:0004888, IgG binding, transmembrane signaling receptor activity, GO:0050776, GO:0050776, GO:0038096, GO:0007166, GO:0006955, regulation of immune response, regulation of immune response, Fc-gamma receptor signaling pathway involved in phagocytosis, cell surface receptor signaling pathway, immune response, 9801 7387 13920 2081 3141 5219 2755 2541 4876 ENSG00000203756 chr6 129831244 129861547 - TMEM244 protein_coding 253582 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000203757 chr1 158716327 158720720 - OR6K3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 391114 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000203758 chr1 158445068 158446014 - OR10T1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203760 chr6 126340174 126348875 + CENPW protein_coding 387103 GO:0016363, GO:0005730, GO:0005654, GO:0005654, GO:0005654, GO:0000777, GO:0000776, GO:0000776, GO:0000775, nuclear matrix, nucleolus, nucleoplasm, nucleoplasm, nucleoplasm, condensed chromosome kinetochore, kinetochore, kinetochore, chromosome, centromeric region, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0051382, GO:0051382, GO:0051301, GO:0051276, GO:0034080, GO:0007059, GO:0007059, GO:0007059, GO:0000278, GO:0000278, kinetochore assembly, kinetochore assembly, cell division, chromosome organization, CENP-A containing nucleosome assembly, chromosome segregation, chromosome segregation, chromosome segregation, mitotic cell cycle, mitotic cell cycle, 3 0 0 5 2 2 4 3 0 ENSG00000203761 chr1 155745829 155750137 + MSTO2P unprocessed_pseudogene 28 43 53 90 99 67 82 65 57 ENSG00000203772 chr10 133420666 133424572 - SPRN protein_coding 503542 GO:0031982, GO:0031225, GO:0005886, GO:0005829, GO:0005730, GO:0005634, GO:0005576, vesicle, anchored component of membrane, plasma membrane, cytosol, nucleolus, nucleus, extracellular region, GO:0003676, nucleic acid binding, GO:0006606, protein import into nucleus, 2 1 0 18 0 7 10 3 5 ENSG00000203778 chr6 112087599 112102790 + FAM229B protein_coding 619208 GO:0005515, protein binding, 3 0 0 3 1 2 0 1 0 ENSG00000203780 chr10 125896539 126009592 + FANK1 protein_coding 92565 GO:0097546, GO:0036064, GO:0005929, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000785, ciliary base, ciliary basal body, cilium, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0005515, protein binding, GO:0051091, GO:0051091, GO:0045893, GO:0043066, GO:0043065, GO:0042981, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of transcription, DNA-templated, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of apoptotic process, 3 1 3 10 0 2 3 0 0 ENSG00000203781 chr1 153427020 153428401 - S100A7P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203782 chr1 153259700 153262122 + LOR protein_coding This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]. 4014 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0001533, GO:0001533, GO:0001533, cytosol, cytoplasm, cytoplasm, nucleoplasm, cornified envelope, cornified envelope, cornified envelope, GO:0030280, GO:0030280, GO:0005515, GO:0005200, structural constituent of skin epidermis, structural constituent of skin epidermis, protein binding, structural constituent of cytoskeleton, GO:0070268, GO:0030216, GO:0018149, GO:0007010, cornification, keratinocyte differentiation, peptide cross-linking, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000203783 chr1 153217584 153219317 + PRR9 protein_coding 574414 0 0 0 0 0 0 0 0 0 ENSG00000203784 chr1 153203443 153205120 + LELP1 protein_coding 149018 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000203785 chr1 153093135 153106184 - SPRR2E protein_coding This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014]. 6704 GO:0005829, GO:0005737, GO:0001533, GO:0001533, cytosol, cytoplasm, cornified envelope, cornified envelope, GO:0030280, GO:0005515, GO:0005198, structural constituent of skin epidermis, protein binding, structural molecule activity, GO:0070268, GO:0018149, GO:0008544, cornification, peptide cross-linking, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000203786 chr1 152759561 152762052 + KPRP protein_coding This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]. 448834 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000203791 chr10 124748149 124791870 - EEF1AKMT2 protein_coding 399818 GO:0005829, GO:0005737, GO:0005737, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, GO:0016279, GO:0016279, GO:0016279, GO:0008168, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, methyltransferase activity, GO:0018027, GO:0018026, GO:0018022, GO:0006479, peptidyl-lysine dimethylation, peptidyl-lysine monomethylation, peptidyl-lysine methylation, protein methylation, 9 5 12 11 5 10 15 5 8 ENSG00000203795 chr10 122910701 122913111 + FAM24A protein_coding 118670 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000203797 chr6 110391771 110415562 - DDO protein_coding The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2019]. 8528 GO:0005829, GO:0005829, GO:0005782, GO:0005777, GO:0005737, cytosol, cytosol, peroxisomal matrix, peroxisome, cytoplasm, GO:0071949, GO:0008445, GO:0008445, GO:0005515, GO:0003884, FAD binding, D-aspartate oxidase activity, D-aspartate oxidase activity, protein binding, D-amino-acid oxidase activity, GO:0055114, GO:0042445, GO:0034641, GO:0019478, GO:0019478, GO:0007625, GO:0007320, GO:0006625, GO:0006533, oxidation-reduction process, hormone metabolic process, cellular nitrogen compound metabolic process, D-amino acid catabolic process, D-amino acid catabolic process, grooming behavior, insemination, protein targeting to peroxisome, aspartate catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000203799 chr6 109165831 109355063 + CCDC162P transcribed_unitary_pseudogene 2 5 1 0 6 14 6 16 1 ENSG00000203801 chr6 108751654 108769942 + LINC00222 lincRNA 387111 11 6 11 11 19 17 7 10 15 ENSG00000203804 chr1 150560202 150574552 - ADAMTSL4-AS1 processed_transcript 574406 446 602 607 344 922 657 536 607 589 ENSG00000203805 chr10 120456954 120589855 + PLPP4 protein_coding 196051 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0042802, GO:0008195, GO:0008195, GO:0005515, GO:0000810, identical protein binding, phosphatidate phosphatase activity, phosphatidate phosphatase activity, protein binding, diacylglycerol diphosphate phosphatase activity, GO:0090279, GO:0046839, GO:0046839, GO:0038096, GO:0006644, GO:0001835, regulation of calcium ion import, phospholipid dephosphorylation, phospholipid dephosphorylation, Fc-gamma receptor signaling pathway involved in phagocytosis, phospholipid metabolic process, blastocyst hatching, 0 0 0 0 0 0 0 0 0 ENSG00000203808 chr6 105136308 105169945 + BVES-AS1 antisense 154442 0 0 0 0 0 0 0 0 0 ENSG00000203809 chr6 104864464 104941447 - LIN28B-AS1 lincRNA 100113403 0 0 0 0 0 0 0 0 0 ENSG00000203811 chr1 149839538 149841193 - HIST2H3C protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Aug 2015]. 126961 GO:0070062, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, GO:0000786, extracellular exosome, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, nucleosome, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0007596, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, blood coagulation, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 0 0 0 3 3 3 2 0 1 ENSG00000203812 chr1 149842188 149842736 - HIST2H2AA3 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Aug 2015]. 8337 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, GO:0003674, protein heterodimerization activity, protein binding, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 115 86 137 32 39 30 51 70 37 ENSG00000203814 chr1 149782689 149812373 - HIST2H2BF protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family and is found in a histone cluster on chromosome 1. [provided by RefSeq, Aug 2015]. 440689 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleosome, GO:0046982, GO:0003677, GO:0003674, protein heterodimerization activity, DNA binding, molecular_function, GO:0006334, nucleosome assembly, 3653 4443 2437 4004 8269 6579 7673 10941 7677 ENSG00000203818 chr1 143905556 143905966 - HIST2H3PS2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000203825 chr1 143541768 143572834 + AC239859.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203837 chr10 116427867 116477957 + PNLIPRP3 protein_coding 119548 GO:0005615, extracellular space, GO:0016298, GO:0004806, lipase activity, triglyceride lipase activity, GO:0016042, lipid catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000203852 chr1 149852619 149854274 + HIST2H3A protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Aug 2015]. 333932 GO:0070062, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005576, GO:0000786, extracellular exosome, nucleoplasm, nucleus, nucleus, nucleus, extracellular region, nucleosome, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0007596, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, blood coagulation, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 0 1 1 5 7 3 4 6 17 ENSG00000203855 chr1 119564066 119572067 + HSD3BP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203857 chr1 119507198 119515054 + HSD3B1 protein_coding The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]. 3283 GO:0045171, GO:0043231, GO:0030868, GO:0016021, GO:0005789, GO:0005783, GO:0005758, GO:0005743, GO:0005737, GO:0005730, intercellular bridge, intracellular membrane-bounded organelle, smooth endoplasmic reticulum membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrial intermembrane space, mitochondrial inner membrane, cytoplasm, nucleolus, GO:0102294, GO:0047024, GO:0016616, GO:0005515, GO:0004769, GO:0003854, GO:0000253, cholesterol dehydrogenase activity, 5alpha-androstane-3beta,17beta-diol dehydrogenase activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, steroid delta-isomerase activity, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, 3-keto sterol reductase activity, GO:0055114, GO:0051412, GO:0021766, GO:0008207, GO:0006705, GO:0006704, GO:0006703, GO:0006702, GO:0006694, GO:0006694, oxidation-reduction process, response to corticosterone, hippocampus development, C21-steroid hormone metabolic process, mineralocorticoid biosynthetic process, glucocorticoid biosynthetic process, estrogen biosynthetic process, androgen biosynthetic process, steroid biosynthetic process, steroid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000203858 chr1 119439001 119446086 + HSD3BP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000203859 chr1 119414931 119423035 + HSD3B2 protein_coding The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]. 3284 GO:0045171, GO:0043231, GO:0031966, GO:0030868, GO:0016021, GO:0005789, GO:0005783, GO:0005783, GO:0005783, GO:0005758, GO:0005743, GO:0005737, GO:0005730, intercellular bridge, intracellular membrane-bounded organelle, mitochondrial membrane, smooth endoplasmic reticulum membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, endoplasmic reticulum, mitochondrial intermembrane space, mitochondrial inner membrane, cytoplasm, nucleolus, GO:0102294, GO:0016616, GO:0005515, GO:0004769, GO:0004769, GO:0003854, GO:0003854, cholesterol dehydrogenase activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, steroid delta-isomerase activity, steroid delta-isomerase activity, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, GO:0055114, GO:0051412, GO:0021766, GO:0008207, GO:0006705, GO:0006704, GO:0006702, GO:0006702, GO:0006694, GO:0006694, GO:0006694, oxidation-reduction process, response to corticosterone, hippocampus development, C21-steroid hormone metabolic process, mineralocorticoid biosynthetic process, glucocorticoid biosynthetic process, androgen biosynthetic process, androgen biosynthetic process, steroid biosynthetic process, steroid biosynthetic process, steroid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000203864 chr1 116694112 116706603 + C1orf137 lincRNA 388667 0 0 0 0 0 0 0 0 0 ENSG00000203865 chr1 116392247 116418622 - ATP1A1-AS1 processed_transcript 84852 337 253 599 346 292 415 285 193 402 ENSG00000203867 chr10 110644397 110839469 + RBM20 protein_coding This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]. 282996 GO:0005634, GO:0005634, nucleus, nucleus, GO:0008270, GO:0005515, GO:0003729, GO:0003723, zinc ion binding, protein binding, mRNA binding, RNA binding, GO:0043484, GO:0033120, GO:0033120, GO:0008380, GO:0007507, GO:0007507, GO:0006417, GO:0006397, regulation of RNA splicing, positive regulation of RNA splicing, positive regulation of RNA splicing, RNA splicing, heart development, heart development, regulation of translation, mRNA processing, 1 0 4 0 0 0 3 0 3 ENSG00000203870 chrX 154823348 154834662 - SMIM9 protein_coding 100132963 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000203872 chr6 87344849 87365463 + C6orf163 protein_coding 206412 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 17 20 17 23 40 41 40 22 13 ENSG00000203875 chr6 85660950 85678748 - SNHG5 processed_transcript 68 47 93 699 731 620 387 327 383 ENSG00000203876 chr10 109940104 110008381 - ADD3-AS1 processed_transcript 100505933 56 65 90 53 57 54 93 27 75 ENSG00000203877 chr6 83853266 83857515 + RIPPLY2 protein_coding This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 134701 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, GO:0060349, GO:0036342, GO:0032525, GO:0009880, GO:0007368, GO:0007219, GO:0001756, GO:0001503, GO:0000122, bone morphogenesis, post-anal tail morphogenesis, somite rostral/caudal axis specification, embryonic pattern specification, determination of left/right symmetry, Notch signaling pathway, somitogenesis, ossification, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000203878 chr1 111280059 111286116 + CHIAP2 transcribed_unprocessed_pseudogene 149620 0 0 0 0 0 0 0 0 0 ENSG00000203879 chrX 154436913 154443467 + GDI1 protein_coding GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]. 2664 GO:0043209, GO:0043025, GO:0032991, GO:0030496, GO:0030424, GO:0005829, GO:0005794, GO:0005737, GO:0005737, myelin sheath, neuronal cell body, protein-containing complex, midbody, axon, cytosol, Golgi apparatus, cytoplasm, cytoplasm, GO:0031267, GO:0005515, GO:0005096, GO:0005093, GO:0005093, GO:0005092, small GTPase binding, protein binding, GTPase activator activity, Rab GDP-dissociation inhibitor activity, Rab GDP-dissociation inhibitor activity, GDP-dissociation inhibitor activity, GO:0090315, GO:0051592, GO:0051056, GO:0050771, GO:0045773, GO:0043547, GO:0032482, GO:0016192, GO:0015031, GO:0007165, negative regulation of protein targeting to membrane, response to calcium ion, regulation of small GTPase mediated signal transduction, negative regulation of axonogenesis, positive regulation of axon extension, positive regulation of GTPase activity, Rab protein signal transduction, vesicle-mediated transport, protein transport, signal transduction, 2417 2457 2834 3346 3632 3448 3148 2646 2874 ENSG00000203880 chr20 64255695 64287821 + PCMTD2 protein_coding 55251 GO:0005737, cytoplasm, GO:0005515, GO:0004719, protein binding, protein-L-isoaspartate (D-aspartate) O-methyltransferase activity, GO:0006479, protein methylation, 117 157 137 97 189 142 124 114 108 ENSG00000203883 chr20 64047582 64049641 - SOX18 protein_coding This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]. 54345 GO:0005667, GO:0005634, GO:0000785, GO:0000785, GO:0000785, transcription regulator complex, nucleus, chromatin, chromatin, chromatin, GO:1990837, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0072091, GO:0061028, GO:0060956, GO:0060836, GO:0060214, GO:0048866, GO:0048469, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0043534, GO:0035050, GO:0030154, GO:0022405, GO:0009653, GO:0006355, GO:0003151, GO:0001947, GO:0001946, GO:0001946, GO:0001944, GO:0001942, GO:0001701, GO:0001570, GO:0001570, GO:0001525, GO:0001525, GO:0000122, regulation of stem cell proliferation, establishment of endothelial barrier, endocardial cell differentiation, lymphatic endothelial cell differentiation, endocardium formation, stem cell fate specification, cell maturation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, blood vessel endothelial cell migration, embryonic heart tube development, cell differentiation, hair cycle process, anatomical structure morphogenesis, regulation of transcription, DNA-templated, outflow tract morphogenesis, heart looping, lymphangiogenesis, lymphangiogenesis, vasculature development, hair follicle development, in utero embryonic development, vasculogenesis, vasculogenesis, angiogenesis, angiogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 1 0 0 0 0 ENSG00000203896 chr20 63736283 63739103 + LIME1 protein_coding This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]. 54923 GO:0019815, GO:0016021, GO:0005615, B cell receptor complex, integral component of membrane, extracellular space, GO:0019901, GO:0005515, protein kinase binding, protein binding, GO:1901222, GO:0051279, GO:0050853, GO:0050852, GO:0043405, GO:0043122, GO:0014066, GO:0006357, GO:0002250, regulation of NIK/NF-kappaB signaling, regulation of release of sequestered calcium ion into cytosol, B cell receptor signaling pathway, T cell receptor signaling pathway, regulation of MAP kinase activity, regulation of I-kappaB kinase/NF-kappaB signaling, regulation of phosphatidylinositol 3-kinase signaling, regulation of transcription by RNA polymerase II, adaptive immune response, 19 12 25 21 43 33 45 44 10 ENSG00000203897 chr1 108857217 108858524 + SPATA42 antisense 642864 0 0 0 0 0 0 0 0 0 ENSG00000203900 chr20 63359988 63371177 + AL121827.1 antisense 100130587 0 0 0 0 0 0 0 0 0 ENSG00000203907 chr6 73368555 73395133 - OOEP protein_coding 441161 GO:0045179, GO:0032991, GO:0032991, GO:0005938, GO:0005737, GO:0005634, GO:0005634, apical cortex, protein-containing complex, protein-containing complex, cell cortex, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:2000781, GO:1905168, GO:0070201, GO:0051302, GO:0051293, GO:0045836, GO:0035088, GO:0032880, GO:0031297, GO:0009880, GO:0008150, GO:0007015, positive regulation of double-strand break repair, positive regulation of double-strand break repair via homologous recombination, regulation of establishment of protein localization, regulation of cell division, establishment of spindle localization, positive regulation of meiotic nuclear division, establishment or maintenance of apical/basal cell polarity, regulation of protein localization, replication fork processing, embryonic pattern specification, biological_process, actin filament organization, 1 0 5 0 3 15 0 1 13 ENSG00000203908 chr6 73362677 73364171 + KHDC3L protein_coding The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]. 154288 GO:0045179, GO:0032991, GO:0032991, GO:0005938, GO:0005737, GO:0005634, GO:0005634, apical cortex, protein-containing complex, protein-containing complex, cell cortex, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:2000781, GO:0051656, GO:0040019, GO:0032880, GO:0031297, GO:0008150, GO:0007015, positive regulation of double-strand break repair, establishment of organelle localization, positive regulation of embryonic development, regulation of protein localization, replication fork processing, biological_process, actin filament organization, 0 0 0 0 0 0 0 0 0 ENSG00000203909 chr6 73353062 73354295 - DPPA5 protein_coding This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010]. 340168 GO:0005737, cytoplasm, GO:0003729, mRNA binding, GO:0010468, GO:0007275, regulation of gene expression, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000203910 chr1 92217940 92245813 + C1orf146 protein_coding 388649 0 2 0 0 0 0 0 0 0 ENSG00000203914 chr1 91642516 91644082 + HSP90B3P processed_pseudogene 0 1 0 0 0 2 0 1 0 ENSG00000203923 chrX 145246828 145256112 + SPANXN1 protein_coding This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, May 2010]. 494118 0 0 0 0 0 0 0 0 0 ENSG00000203926 chrX 141589435 141590772 + SPANXA2 protein_coding Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]. 728712 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0007283, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000203930 chrX 140709562 140793215 + LINC00632 antisense 0 0 0 0 0 0 0 0 0 ENSG00000203933 chrX 139955725 139965520 - CXorf66 protein_coding The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 2009]. 347487 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000203942 chr10 97589727 97590934 + C10orf62 protein_coding 414157 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000203943 chr1 84298366 84389957 + SAMD13 protein_coding 148418 GO:0005634, nucleus, GO:0042393, GO:0003682, histone binding, chromatin binding, GO:0045892, negative regulation of transcription, DNA-templated, 0 0 0 1 0 0 0 0 3 ENSG00000203950 chrX 135050932 135052196 - RTL8A protein_coding 26071 GO:0005730, nucleolus, GO:0005515, protein binding, 41 33 38 19 9 43 16 17 28 ENSG00000203952 chrX 134237047 134246207 + CCDC160 protein_coding 347475 0 0 0 0 0 0 0 0 0 ENSG00000203963 chr1 67092165 67231853 - C1orf141 protein_coding 400757 0 0 0 0 0 0 0 0 0 ENSG00000203965 chr1 63523372 63572693 + EFCAB7 protein_coding 84455 GO:0098797, GO:0060170, GO:0019898, GO:0005929, plasma membrane protein complex, ciliary membrane, extrinsic component of membrane, cilium, GO:0005509, calcium ion binding, GO:1903569, GO:0045944, GO:0042307, positive regulation of protein localization to ciliary membrane, positive regulation of transcription by RNA polymerase II, positive regulation of protein import into nucleus, 10 11 16 14 11 20 16 7 21 ENSG00000203970 chr6 50009138 50021981 - DEFB110 protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. 245913 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000203971 chr20 57957126 57959660 - AL354984.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000203972 chr6 49499958 49527047 + GLYATL3 protein_coding 389396 GO:0005739, mitochondrion, GO:0047961, GO:0047961, GO:0016410, glycine N-acyltransferase activity, glycine N-acyltransferase activity, N-acyltransferase activity, 0 0 0 0 0 0 0 0 0 ENSG00000203985 chr1 54007299 54018186 - LDLRAD1 protein_coding 388633 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 1 0 0 0 0 0 0 0 ENSG00000203987 chr9 137867925 137892570 - AL772363.1 antisense 100133077 0 0 0 0 0 0 0 0 0 ENSG00000203989 chrX 120070672 120077705 - RHOXF2B protein_coding 727940 GO:0000785, GO:0000785, chromatin, chromatin, GO:0000981, GO:0000981, GO:0000977, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0010628, GO:0006357, positive regulation of gene expression, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 1 0 0 ENSG00000203993 chr9 137615332 137618906 - ARRDC1-AS1 antisense This transcribed locus is thought to be non-coding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 85026 44 34 42 49 41 41 31 52 49 ENSG00000203995 chr1 52842511 52894998 + ZYG11A protein_coding 440590 GO:0031462, Cul2-RING ubiquitin ligase complex, 0 0 0 0 0 0 0 2 0 ENSG00000203999 chr20 50292720 50314922 + LINC01270 lincRNA 284751 426 427 510 302 468 289 406 269 317 ENSG00000204001 chr9 136754386 136758543 - LCN8 protein_coding Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]. 138307 GO:0005576, extracellular region, GO:0036094, small molecule binding, GO:0009725, response to hormone, 0 0 0 0 0 0 0 0 1 ENSG00000204003 chr9 136738167 136748453 - AL355987.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000204006 chr1 51102221 51148086 + C1orf185 protein_coding 284546 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000204007 chr9 135623656 135639540 - GLT6D1 protein_coding The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]. 360203 GO:0031982, GO:0016021, GO:0005794, vesicle, integral component of membrane, Golgi apparatus, GO:0016758, GO:0016757, transferase activity, transferring hexosyl groups, transferase activity, transferring glycosyl groups, GO:0030259, GO:0005975, lipid glycosylation, carbohydrate metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000204010 chr10 89378056 89385205 + IFIT1B protein_coding 439996 GO:0005829, cytosol, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0051607, defense response to virus, 0 4 2 1 0 1 3 0 0 ENSG00000204011 chr9 134649385 134652843 - COL5A1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000204019 chrX 116461682 116463003 - CT83 protein_coding 203413 GO:0016021, GO:0005886, GO:0005634, integral component of membrane, plasma membrane, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000204020 chr10 88761406 88778242 + LIPN protein_coding The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]. 643418 GO:0043231, GO:0005576, intracellular membrane-bounded organelle, extracellular region, GO:0016788, hydrolase activity, acting on ester bonds, GO:0070268, GO:0016042, cornification, lipid catabolic process, 288 263 455 50 74 100 67 66 65 ENSG00000204021 chr10 88724544 88752786 + LIPK protein_coding 643414 GO:0043231, GO:0005576, intracellular membrane-bounded organelle, extracellular region, GO:0016788, hydrolase activity, acting on ester bonds, GO:0070268, GO:0016042, cornification, lipid catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000204022 chr10 88586753 88606976 + LIPJ protein_coding 142910 GO:0043231, intracellular membrane-bounded organelle, GO:0016788, hydrolase activity, acting on ester bonds, GO:0016042, lipid catabolic process, 0 0 0 2 0 1 0 0 0 ENSG00000204025 chrX 111876051 111903990 + TRPC5OS protein_coding 100329135 0 0 0 0 0 0 0 0 0 ENSG00000204031 chr9 133317794 133318469 + LCN1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204033 chr10 84220495 84225589 - LRIT2 protein_coding 340745 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000204044 chr20 46013500 46022073 - SLC12A5-AS1 antisense 109729184 190 292 557 98 371 253 196 293 270 ENSG00000204049 chr10 77866875 77869610 + AL391421.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000204052 chr6 43506969 43510686 - LRRC73 protein_coding 221424 GO:0005515, protein binding, 4 1 2 1 4 2 2 3 9 ENSG00000204053 chrX 107272582 107273656 + MYCLP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204054 chr9 129483451 129513686 + LINC00963 processed_transcript 2602 2108 2493 1829 2646 2639 2499 1913 2189 ENSG00000204055 chr9 129176771 129210548 + AL158151.1 antisense 13 21 39 21 59 34 26 24 30 ENSG00000204060 chr1 41361922 41383590 + FOXO6 protein_coding 100132074 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:0005515, GO:0000981, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060999, GO:0007613, GO:0006357, GO:0006357, positive regulation of dendritic spine development, memory, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 3 9 1 6 1 0 2 3 ENSG00000204065 chrX 103273691 103276872 - TCEAL5 protein_coding This gene, which is located on the X chromosome, encodes a protein which contains a BEX (brain expressed X-liked like family) domain. This domain is found in proteins encoded by the TCEAL elongation factor (transcription elongation factor A (SII)-like) gene family also located on the X chromosome. The coding region for this gene is located entirely in the terminal exon. [provided by RefSeq, Sep 2011]. 340543 GO:0005634, nucleus, GO:0050699, GO:0005515, WW domain binding, protein binding, 0 0 0 0 0 0 0 2 0 ENSG00000204070 chr20 45361937 45376798 + SYS1 protein_coding SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009]. 90196 GO:0032588, GO:0030173, GO:0005829, GO:0005802, trans-Golgi network membrane, integral component of Golgi membrane, cytosol, trans-Golgi network, GO:0005515, protein binding, GO:0043001, GO:0034067, GO:0006895, Golgi to plasma membrane protein transport, protein localization to Golgi apparatus, Golgi to endosome transport, 358 369 573 203 296 285 216 238 226 ENSG00000204071 chrX 102140476 102142970 - TCEAL6 protein_coding 158931 GO:0005634, nucleus, GO:0050699, WW domain binding, 0 0 0 0 0 0 0 0 1 ENSG00000204072 chrX 101597510 101598671 + ARMCX7P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204084 chr1 37860697 37947057 - INPP5B protein_coding This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]. 3633 GO:0031901, GO:0030670, GO:0016021, GO:0016020, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005793, early endosome membrane, phagocytic vesicle membrane, integral component of membrane, membrane, membrane, plasma membrane, cytosol, cytosol, cytosol, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, GO:0052658, GO:0052658, GO:0046872, GO:0005515, GO:0004439, GO:0004439, inositol-1,4,5-trisphosphate 5-phosphatase activity, inositol-1,4,5-trisphosphate 5-phosphatase activity, metal ion binding, protein binding, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, GO:0070613, GO:0051056, GO:0046856, GO:0046856, GO:0046855, GO:0043647, GO:0030317, GO:0007283, GO:0007165, GO:0001701, regulation of protein processing, regulation of small GTPase mediated signal transduction, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, inositol phosphate dephosphorylation, inositol phosphate metabolic process, flagellated sperm motility, spermatogenesis, signal transduction, in utero embryonic development, 197 213 200 253 231 309 243 151 168 ENSG00000204086 chrX 96883908 96885467 + RPA4 protein_coding This gene encodes a single-stranded DNA-binding protein that is the 30-kDa subunit of the replication protein A complex. Replication protein A is an essential factor for DNA double-strand break repair and cell cycle checkpoint activation. The encoded protein localizes to DNA repair foci and may be involved in the cellular DNA damage response. This protein may also play a role in inhibiting viral replication.[provided by RefSeq, Apr 2010]. 29935 GO:0035861, GO:0005662, GO:0005662, GO:0005654, GO:0005634, GO:0005634, GO:0000781, site of double-strand break, DNA replication factor A complex, DNA replication factor A complex, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0005515, GO:0003697, protein binding, single-stranded DNA binding, GO:0033260, GO:0006289, GO:0006289, GO:0006270, GO:0006260, GO:0000724, GO:0000082, GO:0000077, nuclear DNA replication, nucleotide-excision repair, nucleotide-excision repair, DNA replication initiation, DNA replication, double-strand break repair via homologous recombination, G1/S transition of mitotic cell cycle, DNA damage checkpoint, 1 0 3 1 0 6 2 1 4 ENSG00000204091 chr6 40334954 40379887 + TDRG1 antisense 732253 0 0 0 0 0 0 0 0 0 ENSG00000204092 chr6 40344344 40346151 - LINC00951 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000204099 chr2 241808825 241817413 + NEU4 protein_coding The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]. 129807 GO:0043231, GO:0043202, GO:0043005, GO:0019866, GO:0016020, GO:0005886, GO:0005789, GO:0005764, GO:0005764, GO:0005743, GO:0005741, GO:0005737, intracellular membrane-bounded organelle, lysosomal lumen, neuron projection, organelle inner membrane, membrane, plasma membrane, endoplasmic reticulum membrane, lysosome, lysosome, mitochondrial inner membrane, mitochondrial outer membrane, cytoplasm, GO:0052796, GO:0052795, GO:0052794, GO:0005515, GO:0004308, GO:0004308, exo-alpha-(2->8)-sialidase activity, exo-alpha-(2->6)-sialidase activity, exo-alpha-(2->3)-sialidase activity, protein binding, exo-alpha-sialidase activity, exo-alpha-sialidase activity, GO:0010977, GO:0009313, GO:0009313, GO:0006689, GO:0006689, GO:0006687, GO:0006516, negative regulation of neuron projection development, oligosaccharide catabolic process, oligosaccharide catabolic process, ganglioside catabolic process, ganglioside catabolic process, glycosphingolipid metabolic process, glycoprotein catabolic process, 0 0 1 4 0 0 0 0 0 ENSG00000204103 chr20 40685848 40689240 - MAFB protein_coding The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]. 9935 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:0044877, GO:0043565, GO:0042802, GO:0008134, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, protein-containing complex binding, sequence-specific DNA binding, identical protein binding, transcription factor binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048538, GO:0045944, GO:0045893, GO:0045671, GO:0045647, GO:0045637, GO:0045444, GO:0042472, GO:0035284, GO:0033077, GO:0021599, GO:0021572, GO:0021571, GO:0007585, GO:0007423, GO:0007379, GO:0006357, GO:0006355, thymus development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of osteoclast differentiation, negative regulation of erythrocyte differentiation, regulation of myeloid cell differentiation, fat cell differentiation, inner ear morphogenesis, brain segmentation, T cell differentiation in thymus, abducens nerve formation, rhombomere 6 development, rhombomere 5 development, respiratory gaseous exchange by respiratory system, sensory organ development, segment specification, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 574 557 794 364 436 530 433 485 529 ENSG00000204104 chr2 238320441 238400900 + TRAF3IP1 protein_coding The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]. 26146 GO:0097546, GO:0097542, GO:0097542, GO:0036064, GO:0035869, GO:0030992, GO:0030992, GO:0005930, GO:0005929, GO:0005813, ciliary base, ciliary tip, ciliary tip, ciliary basal body, ciliary transition zone, intraciliary transport particle B, intraciliary transport particle B, axoneme, cilium, centrosome, GO:0008017, GO:0005515, microtubule binding, protein binding, GO:1901621, GO:0070507, GO:0070507, GO:0060271, GO:0050687, GO:0042733, GO:0042073, GO:0036342, GO:0035735, GO:0035050, GO:0032688, GO:0032480, GO:0031333, GO:0031076, GO:0021532, GO:0001933, GO:0001822, GO:0001738, negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning, regulation of microtubule cytoskeleton organization, regulation of microtubule cytoskeleton organization, cilium assembly, negative regulation of defense response to virus, embryonic digit morphogenesis, intraciliary transport, post-anal tail morphogenesis, intraciliary transport involved in cilium assembly, embryonic heart tube development, negative regulation of interferon-beta production, negative regulation of type I interferon production, negative regulation of protein-containing complex assembly, embryonic camera-type eye development, neural tube patterning, negative regulation of protein phosphorylation, kidney development, morphogenesis of a polarized epithelium, 8 15 12 30 2 25 16 10 24 ENSG00000204110 chr6 37507348 37535616 + LINC02520 lincRNA 2 3 8 10 4 32 1 6 2 ENSG00000204113 chrX 74185929 74187153 + BMP2KL processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000204116 chrX 73563200 73687102 + CHIC1 protein_coding This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]. 53344 GO:0031410, GO:0005886, cytoplasmic vesicle, plasma membrane, 17 14 43 61 11 54 71 20 32 ENSG00000204117 chr20 37676910 37683234 + AL162293.1 lincRNA 100287792 0 0 0 0 0 0 0 0 0 ENSG00000204118 chrX 73126037 73128080 - NAP1L6 transcribed_processed_pseudogene 645996 GO:0005634, nucleus, GO:0006334, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000204120 chr2 232697299 232860575 + GIGYF2 protein_coding This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. 26058 GO:1990635, GO:0043204, GO:0032991, GO:0016021, GO:0016020, GO:0010494, GO:0005829, GO:0005794, GO:0005783, GO:0005768, proximal dendrite, perikaryon, protein-containing complex, integral component of membrane, membrane, cytoplasmic stress granule, cytosol, Golgi apparatus, endoplasmic reticulum, endosome, GO:0070064, GO:0045296, GO:0005515, GO:0003723, proline-rich region binding, cadherin binding, protein binding, RNA binding, GO:0061157, GO:0050885, GO:0050881, GO:0048873, GO:0048009, GO:0044267, GO:0035264, GO:0031571, GO:0021522, GO:0017148, GO:0016441, GO:0009791, GO:0008344, GO:0007631, mRNA destabilization, neuromuscular process controlling balance, musculoskeletal movement, homeostasis of number of cells within a tissue, insulin-like growth factor receptor signaling pathway, cellular protein metabolic process, multicellular organism growth, mitotic G1 DNA damage checkpoint, spinal cord motor neuron differentiation, negative regulation of translation, posttranscriptional gene silencing, post-embryonic development, adult locomotory behavior, feeding behavior, 840 901 891 465 614 580 527 455 471 ENSG00000204121 chr2 232415818 232419816 - ECEL1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204128 chr2 231037490 231049719 + C2orf72 protein_coding 257407 0 0 0 0 0 0 0 0 0 ENSG00000204130 chr10 68341107 68407294 - RUFY2 protein_coding 55680 GO:0005768, GO:0005737, GO:0005737, GO:0005634, endosome, cytoplasm, cytoplasm, nucleus, GO:0046872, GO:0017124, metal ion binding, SH3 domain binding, GO:0030100, GO:0008150, regulation of endocytosis, biological_process, 652 688 851 552 726 681 487 463 430 ENSG00000204131 chrX 71910818 72161750 + NHSL2 protein_coding 340527 GO:0005515, protein binding, GO:0030154, cell differentiation, 4557 4811 4665 2302 4529 3957 3443 3613 3662 ENSG00000204136 chr9 121444991 121500027 - GGTA1P transcribed_unitary_pseudogene Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is thought to encode a truncated, non-enzymatic form of the GGTA1 protein that lacks the C-terminal catalytic domain. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. [provided by RefSeq, May 2020]. 2681 GO:0032580, GO:0031985, GO:0016021, GO:0005575, Golgi cisterna membrane, Golgi cisterna, integral component of membrane, cellular_component, GO:0016758, GO:0003674, transferase activity, transferring hexosyl groups, molecular_function, GO:1901750, GO:0033580, GO:0008150, GO:0005975, leukotriene D4 biosynthetic process, protein galactosylation at cell surface, biological_process, carbohydrate metabolic process, 3 8 4 4 10 10 3 12 6 ENSG00000204138 chr1 28369582 28500369 + PHACTR4 protein_coding This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 65979 GO:0030027, GO:0005737, lamellipodium, cytoplasm, GO:0072542, GO:0008157, GO:0003779, GO:0003779, protein phosphatase activator activity, protein phosphatase 1 binding, actin binding, actin binding, GO:2001045, GO:0061386, GO:0051726, GO:0048484, GO:0043666, GO:0043085, GO:0030036, GO:0030036, GO:0007266, GO:0001843, GO:0001755, GO:0001755, negative regulation of integrin-mediated signaling pathway, closure of optic fissure, regulation of cell cycle, enteric nervous system development, regulation of phosphoprotein phosphatase activity, positive regulation of catalytic activity, actin cytoskeleton organization, actin cytoskeleton organization, Rho protein signal transduction, neural tube closure, neural crest cell migration, neural crest cell migration, 89 107 124 65 81 130 102 67 91 ENSG00000204140 chr6 35781017 35793675 + CLPSL1 protein_coding 340204 GO:0005576, extracellular region, GO:0008047, enzyme activator activity, GO:0043085, GO:0032094, GO:0016042, GO:0007586, positive regulation of catalytic activity, response to food, lipid catabolic process, digestion, 0 0 0 0 0 0 0 0 0 ENSG00000204147 chr10 50739318 50816495 + ASAH2B protein_coding 653308 GO:0005576, extracellular region, GO:0017040, N-acylsphingosine amidohydrolase activity, GO:0046514, GO:0046512, GO:0042759, ceramide catabolic process, sphingosine biosynthetic process, long-chain fatty acid biosynthetic process, 1 1 5 5 2 10 11 5 1 ENSG00000204148 chr9 115888169 115925207 - LINC00474 lincRNA 58483 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000204149 chr10 49982190 50010499 + AGAP6 protein_coding 414189 GO:0005634, nucleus, GO:0046872, GO:0005096, metal ion binding, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 53 50 72 123 81 100 103 33 133 ENSG00000204152 chr10 49942033 49974850 + TIMM23B protein_coding 100652748 GO:0031305, GO:0005744, GO:0005575, integral component of mitochondrial inner membrane, TIM23 mitochondrial import inner membrane translocase complex, cellular_component, GO:0015450, GO:0008320, GO:0003674, P-P-bond-hydrolysis-driven protein transmembrane transporter activity, protein transmembrane transporter activity, molecular_function, GO:0030150, GO:0008150, protein import into mitochondrial matrix, biological_process, 25 9 22 42 14 50 27 13 7 ENSG00000204160 chr1 26826710 26857602 + ZDHHC18 protein_coding 84243 GO:0016021, GO:0005794, GO:0005794, GO:0005783, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0019706, GO:0016409, protein-cysteine S-palmitoyltransferase activity, palmitoyltransferase activity, GO:0018345, GO:0018230, GO:0018230, GO:0006612, protein palmitoylation, peptidyl-L-cysteine S-palmitoylation, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 10712 11203 17053 4272 7974 7364 5335 7014 6737 ENSG00000204161 chr10 49154725 49188585 - TMEM273 protein_coding 170371 GO:0016021, integral component of membrane, 243 596 349 229 511 209 172 380 247 ENSG00000204165 chrX 71103889 71106788 - CXorf65 protein_coding 158830 1 4 1 3 7 6 13 4 2 ENSG00000204172 chr10 47501854 47523638 - AGAP9 protein_coding 642517 GO:0005634, nucleus, GO:0046872, GO:0005096, metal ion binding, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 1 6 20 10 2 29 7 4 31 ENSG00000204173 chr9 111602831 111631289 - LRRC37A5P transcribed_unprocessed_pseudogene 652972 0 0 0 0 0 0 0 0 0 ENSG00000204174 chr10 46461099 46465881 - NPY4R protein_coding 5540 0 0 0 0 0 0 0 0 0 ENSG00000204175 chr10 46549044 46555530 - GPRIN2 protein_coding 9721 GO:0005886, plasma membrane, GO:0005515, protein binding, GO:0031175, neuron projection development, 0 0 0 0 0 0 0 0 0 ENSG00000204176 chr10 46578217 46594173 + SYT15 protein_coding This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 83849 GO:0070382, GO:0016021, GO:0005886, exocytic vesicle, integral component of membrane, plasma membrane, GO:0030276, GO:0005544, GO:0005509, GO:0001786, GO:0000149, clathrin binding, calcium-dependent phospholipid binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:0071277, GO:0017158, GO:0017156, GO:0016192, GO:0014059, cellular response to calcium ion, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, 0 0 0 0 0 0 0 0 4 ENSG00000204177 chr10 46786674 46811989 + BMS1P1 transcribed_unprocessed_pseudogene 399761 3 0 0 8 0 14 3 1 7 ENSG00000204178 chr1 25430858 25500209 + MACO1 protein_coding 55219 GO:0045202, GO:0044306, GO:0031965, GO:0031965, GO:0030867, GO:0030867, GO:0030424, GO:0016021, GO:0005634, synapse, neuron projection terminus, nuclear membrane, nuclear membrane, rough endoplasmic reticulum membrane, rough endoplasmic reticulum membrane, axon, integral component of membrane, nucleus, GO:0051015, GO:0008017, GO:0005515, GO:0003674, actin filament binding, microtubule binding, protein binding, molecular_function, GO:0023041, GO:0023041, GO:0007420, GO:0006935, neuronal signal transduction, neuronal signal transduction, brain development, chemotaxis, 177 185 320 125 109 147 119 89 130 ENSG00000204179 chr10 46911396 47002488 + PTPN20 protein_coding The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 26095 GO:0034451, GO:0005874, GO:0005737, GO:0005654, centriolar satellite, microtubule, cytoplasm, nucleoplasm, GO:0004725, protein tyrosine phosphatase activity, GO:0071345, GO:0035335, cellular response to cytokine stimulus, peptidyl-tyrosine dephosphorylation, 1 0 0 7 0 0 0 0 0 ENSG00000204183 chr20 35433029 35435450 + GDF5OS antisense 0 0 0 0 0 0 0 0 0 ENSG00000204186 chr2 206274663 206314438 + ZDBF2 protein_coding This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. 57683 GO:0008270, GO:0003676, zinc ion binding, nucleic acid binding, 59 35 112 178 33 159 156 27 95 ENSG00000204188 chr6 33540046 33589026 + GGNBP1 transcribed_unitary_pseudogene This gene is the ortholog of the mouse gametogenetin-binding protein 1 gene. In human, the open reading frame is disrupted by a nonsense mutation after 8-aa; consequently, this gene is currently considered to be a unitary pseudogene in human even though it is functional in other mammals. [provided by RefSeq, Aug 2009]. 449520 GO:0016020, GO:0005794, GO:0005737, membrane, Golgi apparatus, cytoplasm, GO:0030154, GO:0007283, GO:0007275, GO:0000266, cell differentiation, spermatogenesis, multicellular organism development, mitochondrial fission, 44 18 26 8 10 16 9 12 14 ENSG00000204193 chr9 110303521 110337884 - TXNDC8 protein_coding 255220 GO:0070062, GO:0036126, GO:0005794, GO:0005794, GO:0005737, GO:0001669, extracellular exosome, sperm flagellum, Golgi apparatus, Golgi apparatus, cytoplasm, acrosomal vesicle, GO:0015035, protein disulfide oxidoreductase activity, GO:0055114, GO:0007283, GO:0007283, GO:0007275, GO:0001675, oxidation-reduction process, spermatogenesis, spermatogenesis, multicellular organism development, acrosome assembly, 1 0 0 0 0 0 0 0 0 ENSG00000204194 chr6 33400059 33400556 - RPL12P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204195 chrX 70234655 70240627 + AWAT1 protein_coding The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009]. 158833 GO:0016021, GO:0005789, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0102966, GO:0047196, GO:0047196, GO:0008374, arachidoyl-CoA:1-dodecanol O-acyltransferase activity, long-chain-alcohol O-fatty-acyltransferase activity, long-chain-alcohol O-fatty-acyltransferase activity, O-acyltransferase activity, GO:0019369, GO:0010025, GO:0006629, arachidonic acid metabolic process, wax biosynthetic process, lipid metabolic process, 0 0 0 0 0 0 1 0 0 ENSG00000204196 chr2 203190780 203191277 + RPL12P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204209 chr6 33318558 33323016 - DAXX protein_coding This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]. 1616 GO:0016605, GO:0016605, GO:0016605, GO:0016604, GO:0005829, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000775, PML body, PML body, PML body, nuclear body, cytosol, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromosome, centromeric region, GO:0140416, GO:0140037, GO:0050681, GO:0047485, GO:0042393, GO:0042393, GO:0031625, GO:0031072, GO:0030295, GO:0019901, GO:0019899, GO:0008134, GO:0005515, GO:0003714, GO:0003714, GO:0003714, GO:0003713, GO:0002039, transcription regulator inhibitor activity, sumo-dependent protein binding, androgen receptor binding, protein N-terminus binding, histone binding, histone binding, ubiquitin protein ligase binding, heat shock protein binding, protein kinase activator activity, protein kinase binding, enzyme binding, transcription factor binding, protein binding, transcription corepressor activity, transcription corepressor activity, transcription corepressor activity, transcription coactivator activity, p53 binding, GO:1903936, GO:1903508, GO:1901216, GO:0072738, GO:0071280, GO:0071276, GO:0045892, GO:0045892, GO:0045860, GO:0042981, GO:0034620, GO:0034605, GO:0031396, GO:0030521, GO:0016032, GO:0008625, GO:0007257, GO:0006355, GO:0006338, GO:0006334, GO:0006334, GO:0001934, cellular response to sodium arsenite, positive regulation of nucleic acid-templated transcription, positive regulation of neuron death, cellular response to diamide, cellular response to copper ion, cellular response to cadmium ion, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of protein kinase activity, regulation of apoptotic process, cellular response to unfolded protein, cellular response to heat, regulation of protein ubiquitination, androgen receptor signaling pathway, viral process, extrinsic apoptotic signaling pathway via death domain receptors, activation of JUN kinase activity, regulation of transcription, DNA-templated, chromatin remodeling, nucleosome assembly, nucleosome assembly, positive regulation of protein phosphorylation, 17 2 4 2 1 6 1 2 7 ENSG00000204217 chr2 202376936 202567751 + BMPR2 protein_coding This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]. 659 GO:0044214, GO:0043235, GO:0043025, GO:0030425, GO:0016324, GO:0014069, GO:0009986, GO:0009925, GO:0005912, GO:0005901, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005654, GO:0005615, spanning component of plasma membrane, receptor complex, neuronal cell body, dendrite, apical plasma membrane, postsynaptic density, cell surface, basal plasma membrane, adherens junction, caveola, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleoplasm, extracellular space, GO:1990782, GO:0098821, GO:0046872, GO:0045296, GO:0036122, GO:0019838, GO:0016362, GO:0005524, GO:0005515, GO:0005024, GO:0004674, protein tyrosine kinase binding, BMP receptor activity, metal ion binding, cadherin binding, BMP binding, growth factor binding, activin receptor activity, type II, ATP binding, protein binding, transforming growth factor beta-activated receptor activity, protein serine/threonine kinase activity, GO:2000279, GO:1905314, GO:1902731, GO:0072577, GO:0071773, GO:0071363, GO:0061626, GO:0061626, GO:0061298, GO:0061036, GO:0060841, GO:0060840, GO:0060836, GO:0060413, GO:0060412, GO:0060350, GO:0060173, GO:0048842, GO:0048738, GO:0048286, GO:0045944, GO:0045944, GO:0045906, GO:0045778, GO:0045669, GO:0042127, GO:0032924, GO:0030513, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030509, GO:0030501, GO:0030308, GO:0030166, GO:0014916, GO:0014916, GO:0010862, GO:0010634, GO:0010595, GO:0009952, GO:0009267, GO:0007420, GO:0007178, GO:0006468, GO:0003252, GO:0003197, GO:0003186, GO:0003183, GO:0003181, GO:0003177, GO:0003176, GO:0003151, GO:0003148, GO:0003148, GO:0003085, GO:0002063, GO:0001974, GO:0001946, GO:0001938, GO:0001935, GO:0001893, GO:0001707, GO:0001568, negative regulation of DNA biosynthetic process, semi-lunar valve development, negative regulation of chondrocyte proliferation, endothelial cell apoptotic process, cellular response to BMP stimulus, cellular response to growth factor stimulus, pharyngeal arch artery morphogenesis, pharyngeal arch artery morphogenesis, retina vasculature development in camera-type eye, positive regulation of cartilage development, venous blood vessel development, artery development, lymphatic endothelial cell differentiation, atrial septum morphogenesis, ventricular septum morphogenesis, endochondral bone morphogenesis, limb development, positive regulation of axon extension involved in axon guidance, cardiac muscle tissue development, lung alveolus development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of vasoconstriction, positive regulation of ossification, positive regulation of osteoblast differentiation, regulation of cell population proliferation, activin receptor signaling pathway, positive regulation of BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, positive regulation of bone mineralization, negative regulation of cell growth, proteoglycan biosynthetic process, regulation of lung blood pressure, regulation of lung blood pressure, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of epithelial cell migration, positive regulation of endothelial cell migration, anterior/posterior pattern specification, cellular response to starvation, brain development, transmembrane receptor protein serine/threonine kinase signaling pathway, protein phosphorylation, negative regulation of cell proliferation involved in heart valve morphogenesis, endocardial cushion development, tricuspid valve morphogenesis, mitral valve morphogenesis, atrioventricular valve morphogenesis, pulmonary valve development, aortic valve development, outflow tract morphogenesis, outflow tract septum morphogenesis, outflow tract septum morphogenesis, negative regulation of systemic arterial blood pressure, chondrocyte development, blood vessel remodeling, lymphangiogenesis, positive regulation of endothelial cell proliferation, endothelial cell proliferation, maternal placenta development, mesoderm formation, blood vessel development, 85 96 157 82 66 103 111 49 88 ENSG00000204219 chr1 23381061 23424740 - TCEA3 protein_coding 6920 GO:0005634, nucleus, GO:0008270, GO:0005515, GO:0003677, zinc ion binding, protein binding, DNA binding, GO:0006355, GO:0006351, regulation of transcription, DNA-templated, transcription, DNA-templated, 5 1 6 41 9 20 26 7 15 ENSG00000204220 chr6 33289302 33298401 + PFDN6 protein_coding PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010]. 10471 GO:0016272, GO:0016272, GO:0005737, prefoldin complex, prefoldin complex, cytoplasm, GO:0051087, GO:0051087, GO:0051082, GO:0005515, chaperone binding, chaperone binding, unfolded protein binding, protein binding, GO:0051131, GO:0051131, GO:0006457, GO:0006457, chaperone-mediated protein complex assembly, chaperone-mediated protein complex assembly, protein folding, protein folding, 0 0 0 0 0 0 0 0 0 ENSG00000204227 chr6 33208495 33212722 + RING1 protein_coding This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008]. 6015 GO:0035102, GO:0031519, GO:0031519, GO:0016607, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0001739, GO:0000151, PRC1 complex, PcG protein complex, PcG protein complex, nuclear speck, cytosol, nucleoplasm, nucleoplasm, nucleus, sex chromatin, ubiquitin ligase complex, GO:0097027, GO:0061630, GO:0046872, GO:0005515, GO:0003682, ubiquitin-protein transferase activator activity, ubiquitin protein ligase activity, metal ion binding, protein binding, chromatin binding, GO:0070317, GO:0050790, GO:0048593, GO:0045892, GO:0045892, GO:0035518, GO:0035518, GO:0009952, negative regulation of G0 to G1 transition, regulation of catalytic activity, camera-type eye morphogenesis, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, histone H2A monoubiquitination, histone H2A monoubiquitination, anterior/posterior pattern specification, 0 0 0 0 0 0 0 0 0 ENSG00000204228 chr6 33204642 33206831 + HSD17B8 protein_coding In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]. 7923 GO:0005886, GO:0005759, GO:0005759, GO:0005740, plasma membrane, mitochondrial matrix, mitochondrial matrix, mitochondrial envelope, GO:0070404, GO:0048038, GO:0047035, GO:0047025, GO:0016616, GO:0005515, GO:0004303, GO:0004303, GO:0003857, NADH binding, quinone binding, testosterone dehydrogenase (NAD+) activity, 3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity, oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor, protein binding, estradiol 17-beta-dehydrogenase activity, estradiol 17-beta-dehydrogenase activity, 3-hydroxyacyl-CoA dehydrogenase activity, GO:0055114, GO:0055114, GO:0051290, GO:0046949, GO:0008209, GO:0006703, GO:0006703, GO:0006703, GO:0006633, GO:0006633, GO:0006633, oxidation-reduction process, oxidation-reduction process, protein heterotetramerization, fatty-acyl-CoA biosynthetic process, androgen metabolic process, estrogen biosynthetic process, estrogen biosynthetic process, estrogen biosynthetic process, fatty acid biosynthetic process, fatty acid biosynthetic process, fatty acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000204231 chr6 33193588 33200688 - RXRB protein_coding This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 6257 GO:0090575, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, cytoplasm, nucleoplasm, nucleoplasm, nucleus, chromatin, chromatin, GO:1990837, GO:0044323, GO:0008270, GO:0005515, GO:0004879, GO:0004879, GO:0003707, GO:0001228, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, retinoic acid-responsive element binding, zinc ion binding, protein binding, nuclear receptor activity, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048856, GO:0048384, GO:0045944, GO:0045944, GO:0045893, GO:0043401, GO:0032526, GO:0030154, GO:0006367, GO:0006357, anatomical structure development, retinoic acid receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, steroid hormone mediated signaling pathway, response to retinoic acid, cell differentiation, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, 1 1 0 0 3 0 0 0 0 ENSG00000204237 chr17 81665036 81666635 - OXLD1 protein_coding 339229 33 51 39 44 40 32 29 29 28 ENSG00000204241 chr11 134032272 134046849 + AP000911.1 lincRNA 100128239 0 1 0 4 0 4 1 1 10 ENSG00000204246 chr9 104535749 104536856 - OR13C3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 138803 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 1 0 0 0 0 0 0 ENSG00000204248 chr6 33162681 33192499 - COL11A2 protein_coding This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]. 1302 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005592, GO:0005581, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type XI trimer, collagen trimer, extracellular region, GO:0046872, GO:0030674, GO:0030020, GO:0030020, GO:0030020, GO:0005515, GO:0005201, metal ion binding, protein-macromolecule adaptor activity, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, protein binding, extracellular matrix structural constituent, GO:0060023, GO:0060021, GO:0051216, GO:0051216, GO:0030199, GO:0030199, GO:0030198, GO:0007605, GO:0007605, GO:0001501, GO:0001501, soft palate development, roof of mouth development, cartilage development, cartilage development, collagen fibril organization, collagen fibril organization, extracellular matrix organization, sensory perception of sound, sensory perception of sound, skeletal system development, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000204250 chr9 102519636 102657514 + LINC00587 lincRNA 414319 0 0 0 0 0 0 0 0 0 ENSG00000204252 chr6 33004178 33009612 - HLA-DOA protein_coding HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]. 3111 GO:0042613, GO:0016021, GO:0010008, GO:0005886, GO:0005765, MHC class II protein complex, integral component of membrane, endosome membrane, plasma membrane, lysosomal membrane, GO:0032395, GO:0023026, GO:0005515, MHC class II receptor activity, MHC class II protein complex binding, protein binding, GO:0045580, GO:0019886, GO:0002587, GO:0002250, regulation of T cell differentiation, antigen processing and presentation of exogenous peptide antigen via MHC class II, negative regulation of antigen processing and presentation of peptide antigen via MHC class II, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000204253 chr2 189923336 189924216 + HNRNPCP2 processed_pseudogene 139 109 134 34 62 56 53 75 49 ENSG00000204256 chr6 32968660 32981505 + BRD2 protein_coding This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]. 6046 GO:0016607, GO:0005737, GO:0005654, GO:0005654, nuclear speck, cytoplasm, nucleoplasm, nucleoplasm, GO:0070577, GO:0005515, GO:0003682, lysine-acetylated histone binding, protein binding, chromatin binding, GO:0016032, GO:0007283, GO:0006357, GO:0006334, viral process, spermatogenesis, regulation of transcription by RNA polymerase II, nucleosome assembly, 127 743 13 324 1941 719 190 548 33 ENSG00000204257 chr6 32948613 32969094 - HLA-DMA protein_coding HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]. 3108 GO:0043231, GO:0042613, GO:0031902, GO:0016021, GO:0016020, GO:0009986, GO:0005765, intracellular membrane-bounded organelle, MHC class II protein complex, late endosome membrane, integral component of membrane, membrane, cell surface, lysosomal membrane, GO:0023026, GO:0005515, MHC class II protein complex binding, protein binding, GO:0019886, GO:0002503, GO:0002250, antigen processing and presentation of exogenous peptide antigen via MHC class II, peptide antigen assembly with MHC class II protein complex, adaptive immune response, 5 11 0 9 14 0 7 20 0 ENSG00000204261 chr6 32844086 32846495 + PSMB8-AS1 lincRNA 100507463 0 0 0 0 0 0 0 0 0 ENSG00000204262 chr2 189031896 189225312 - COL5A2 protein_coding This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]. 1290 GO:0062023, GO:0031012, GO:0031012, GO:0005788, GO:0005615, GO:0005588, GO:0005588, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, collagen type V trimer, collagen type V trimer, extracellular region, GO:0046872, GO:0046332, GO:0030020, GO:0030020, GO:0005201, metal ion binding, SMAD binding, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, GO:1903225, GO:0071230, GO:0048592, GO:0043588, GO:0043588, GO:0043588, GO:0030199, GO:0030199, GO:0030198, GO:0030198, GO:0001503, GO:0001501, negative regulation of endodermal cell differentiation, cellular response to amino acid stimulus, eye morphogenesis, skin development, skin development, skin development, collagen fibril organization, collagen fibril organization, extracellular matrix organization, extracellular matrix organization, ossification, skeletal system development, 1 0 1 4 2 0 0 1 3 ENSG00000204264 chr6 32840717 32844703 - PSMB8 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]. 5696 GO:1990111, GO:0070062, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000502, spermatoproteasome complex, extracellular exosome, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleus, proteasome complex, GO:0005515, GO:0004298, GO:0004175, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060337, GO:0060071, GO:0055085, GO:0052548, GO:0050852, GO:0045444, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, type I interferon signaling pathway, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, regulation of endopeptidase activity, T cell receptor signaling pathway, fat cell differentiation, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000204267 chr6 32821833 32838780 - TAP2 protein_coding The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]. 6891 GO:0042825, GO:0042824, GO:0042824, GO:0033116, GO:0030670, GO:0030176, GO:0016607, GO:0016021, GO:0016021, GO:0016020, GO:0005789, GO:0005783, TAP complex, MHC class I peptide loading complex, MHC class I peptide loading complex, endoplasmic reticulum-Golgi intermediate compartment membrane, phagocytic vesicle membrane, integral component of endoplasmic reticulum membrane, nuclear speck, integral component of membrane, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:1904680, GO:0046980, GO:0046978, GO:0046978, GO:0042626, GO:0042288, GO:0023029, GO:0016887, GO:0015440, GO:0015433, GO:0015433, GO:0005524, GO:0005524, GO:0005515, peptide transmembrane transporter activity, tapasin binding, TAP1 binding, TAP1 binding, ATPase-coupled transmembrane transporter activity, MHC class I protein binding, MHC class Ib protein binding, ATPase activity, ATPase-coupled peptide transmembrane transporter activity, ATPase-coupled peptide antigen transmembrane transporter activity, ATPase-coupled peptide antigen transmembrane transporter activity, ATP binding, ATP binding, protein binding, GO:1990668, GO:0055085, GO:0046968, GO:0046968, GO:0046967, GO:0019885, GO:0019885, GO:0019885, GO:0016032, GO:0015833, GO:0015031, GO:0002489, GO:0002479, GO:0002474, GO:0002250, vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane, transmembrane transport, peptide antigen transport, peptide antigen transport, cytosol to endoplasmic reticulum transport, antigen processing and presentation of endogenous peptide antigen via MHC class I, antigen processing and presentation of endogenous peptide antigen via MHC class I, antigen processing and presentation of endogenous peptide antigen via MHC class I, viral process, peptide transport, protein transport, antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, adaptive immune response, 0 1 1 0 1 0 0 0 1 ENSG00000204271 chrX 56818298 56995827 - SPIN3 protein_coding 169981 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0035064, GO:0035064, GO:0005515, methylated histone binding, methylated histone binding, protein binding, GO:0007276, GO:0006355, gamete generation, regulation of transcription, DNA-templated, 14 12 25 42 1 15 23 7 25 ENSG00000204272 chrX 56729241 56818380 + NBDY protein_coding 550643 GO:0000932, P-body, GO:0005515, protein binding, GO:0010607, GO:0006397, GO:0000956, negative regulation of cytoplasmic mRNA processing body assembly, mRNA processing, nuclear-transcribed mRNA catabolic process, 6 4 11 26 5 27 21 8 31 ENSG00000204277 chr17 78261349 78278492 - LINC01993 lincRNA 100996291 0 0 0 0 0 0 7 0 0 ENSG00000204278 chr17 78231310 78240987 + TMEM235 protein_coding 283999 GO:0016324, GO:0016021, GO:0005783, apical plasma membrane, integral component of membrane, endoplasmic reticulum, 0 0 0 2 0 0 0 0 0 ENSG00000204279 chrX 55258412 55264846 - PAGE3 protein_coding This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2015]. 139793 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204282 chr17 78107398 78111799 - TNRC6C-AS1 processed_transcript 85 120 174 161 161 227 155 148 227 ENSG00000204283 chr17 77879027 77884087 - LINC01973 lincRNA 400624 6 21 37 2 5 9 4 9 24 ENSG00000204287 chr6 32439842 32445046 + HLA-DRA protein_coding HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]. 3122 GO:0071556, GO:0070062, GO:0042613, GO:0042613, GO:0032588, GO:0031902, GO:0030669, GO:0030666, GO:0030658, GO:0012507, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005765, GO:0005765, GO:0005764, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, MHC class II protein complex, MHC class II protein complex, trans-Golgi network membrane, late endosome membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, ER to Golgi transport vesicle membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, lysosomal membrane, lysosomal membrane, lysosome, Golgi membrane, GO:0042605, GO:0032395, GO:0030247, GO:0023026, GO:0005515, peptide antigen binding, MHC class II receptor activity, polysaccharide binding, MHC class II protein complex binding, protein binding, GO:0060333, GO:0050890, GO:0050852, GO:0019886, GO:0016032, GO:0006955, GO:0002504, GO:0002503, GO:0002250, interferon-gamma-mediated signaling pathway, cognition, T cell receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class II, viral process, immune response, antigen processing and presentation of peptide or polysaccharide antigen via MHC class II, peptide antigen assembly with MHC class II protein complex, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000204290 chr6 32393963 32407128 - BTNL2 protein_coding This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]. 56244 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0005102, signaling receptor binding, GO:0050852, GO:0001817, T cell receptor signaling pathway, regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000204291 chr9 98943179 99070792 + COL15A1 protein_coding This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]. 1306 GO:0070062, GO:0062023, GO:0062023, GO:0062023, GO:0031012, GO:0016021, GO:0005788, GO:0005615, GO:0005615, GO:0005582, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, integral component of membrane, endoplasmic reticulum lumen, extracellular space, extracellular space, collagen type XV trimer, extracellular region, GO:0030020, GO:0030020, GO:0005201, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, GO:0030574, GO:0030198, GO:0007165, GO:0007155, GO:0001886, GO:0001525, collagen catabolic process, extracellular matrix organization, signal transduction, cell adhesion, endothelial cell morphogenesis, angiogenesis, 2 1 0 2 0 9 3 0 0 ENSG00000204296 chr6 32288526 32371912 - C6orf10 protein_coding 10665 GO:0016021, GO:0005634, integral component of membrane, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000204300 chr11 123882926 123885642 - TMEM225 protein_coding 338661 GO:0016021, GO:0002080, integral component of membrane, acrosomal membrane, GO:0010923, GO:0010923, negative regulation of phosphatase activity, negative regulation of phosphatase activity, 0 0 0 0 0 0 0 0 0 ENSG00000204301 chr6 32194843 32224067 - NOTCH4 protein_coding This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. 4855 GO:0009986, GO:0005887, GO:0005886, GO:0005829, GO:0005789, GO:0005654, GO:0005634, GO:0005576, GO:0000139, cell surface, integral component of plasma membrane, plasma membrane, cytosol, endoplasmic reticulum membrane, nucleoplasm, nucleus, extracellular region, Golgi membrane, GO:0038023, GO:0005515, GO:0005509, GO:0005112, signaling receptor activity, protein binding, calcium ion binding, Notch binding, GO:2000048, GO:0060354, GO:0045893, GO:0045747, GO:0045602, GO:0045596, GO:0042060, GO:0035278, GO:0030879, GO:0030154, GO:0030097, GO:0007221, GO:0006367, GO:0001944, GO:0001886, GO:0001837, GO:0001763, GO:0001709, GO:0001569, GO:0000122, negative regulation of cell-cell adhesion mediated by cadherin, negative regulation of cell adhesion molecule production, positive regulation of transcription, DNA-templated, positive regulation of Notch signaling pathway, negative regulation of endothelial cell differentiation, negative regulation of cell differentiation, wound healing, miRNA mediated inhibition of translation, mammary gland development, cell differentiation, hemopoiesis, positive regulation of transcription of Notch receptor target, transcription initiation from RNA polymerase II promoter, vasculature development, endothelial cell morphogenesis, epithelial to mesenchymal transition, morphogenesis of a branching structure, cell fate determination, branching involved in blood vessel morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204304 chr6 32184741 32190186 - PBX2 protein_coding This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]. 5089 GO:0005667, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleus, chromatin, chromatin, GO:0008134, GO:0005515, GO:0003682, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, transcription factor binding, protein binding, chromatin binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0048666, GO:0048568, GO:0045944, GO:0030326, GO:0009954, GO:0009887, GO:0007420, GO:0006357, GO:0001654, neuron development, embryonic organ development, positive regulation of transcription by RNA polymerase II, embryonic limb morphogenesis, proximal/distal pattern formation, animal organ morphogenesis, brain development, regulation of transcription by RNA polymerase II, eye development, 33 18 29 14 27 29 11 18 22 ENSG00000204305 chr6 32180968 32184324 - AGER protein_coding The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]. 177 GO:0098794, GO:0030054, GO:0016324, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005576, GO:0001650, postsynapse, cell junction, apical plasma membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular region, fibrillar center, GO:0050785, GO:0044877, GO:0044548, GO:0042802, GO:0038023, GO:0005515, GO:0005044, GO:0004888, GO:0001540, GO:0001540, GO:0001540, GO:0001540, advanced glycation end-product receptor activity, protein-containing complex binding, S100 protein binding, identical protein binding, signaling receptor activity, protein binding, scavenger receptor activity, transmembrane signaling receptor activity, amyloid-beta binding, amyloid-beta binding, amyloid-beta binding, amyloid-beta binding, GO:2001200, GO:2000514, GO:2000439, GO:1904646, GO:1904645, GO:1904645, GO:1904597, GO:1904472, GO:1903523, GO:1902961, GO:1901224, GO:1901222, GO:1900745, GO:1900744, GO:1900453, GO:1900272, GO:1900272, GO:1900271, GO:0150104, GO:0150104, GO:0150003, GO:0090647, GO:0072657, GO:0071639, GO:0070374, GO:0051101, GO:0051092, GO:0051092, GO:0050930, GO:0048167, GO:0048143, GO:0046330, GO:0045087, GO:0045056, GO:0043507, GO:0042104, GO:0034116, GO:0032760, GO:0032755, GO:0032735, GO:0032731, GO:0032722, GO:0032693, GO:0031175, GO:0010255, GO:0009611, GO:0007611, GO:0007166, GO:0006954, GO:0006897, GO:0001934, GO:0001914, GO:0001774, GO:0001774, GO:0001666, positive regulation of dendritic cell differentiation, regulation of CD4-positive, alpha-beta T cell activation, positive regulation of monocyte extravasation, cellular response to amyloid-beta, response to amyloid-beta, response to amyloid-beta, negative regulation of connective tissue replacement involved in inflammatory response wound healing, positive regulation of endothelin production, negative regulation of blood circulation, positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, positive regulation of NIK/NF-kappaB signaling, regulation of NIK/NF-kappaB signaling, positive regulation of p38MAPK cascade, regulation of p38MAPK cascade, negative regulation of long-term synaptic depression, negative regulation of long-term synaptic potentiation, negative regulation of long-term synaptic potentiation, regulation of long-term synaptic potentiation, transport across blood-brain barrier, transport across blood-brain barrier, regulation of spontaneous synaptic transmission, modulation of age-related behavioral decline, protein localization to membrane, positive regulation of monocyte chemotactic protein-1 production, positive regulation of ERK1 and ERK2 cascade, regulation of DNA binding, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, induction of positive chemotaxis, regulation of synaptic plasticity, astrocyte activation, positive regulation of JNK cascade, innate immune response, transcytosis, positive regulation of JUN kinase activity, positive regulation of activated T cell proliferation, positive regulation of heterotypic cell-cell adhesion, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-12 production, positive regulation of interleukin-1 beta production, positive regulation of chemokine production, negative regulation of interleukin-10 production, neuron projection development, glucose mediated signaling pathway, response to wounding, learning or memory, cell surface receptor signaling pathway, inflammatory response, endocytosis, positive regulation of protein phosphorylation, regulation of T cell mediated cytotoxicity, microglial cell activation, microglial cell activation, response to hypoxia, 1 0 2 4 0 0 0 1 0 ENSG00000204308 chr6 32178354 32180793 + RNF5 protein_coding The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]. 6048 GO:0044322, GO:0031966, GO:0016021, GO:0005789, GO:0005783, endoplasmic reticulum quality control compartment, mitochondrial membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0061630, GO:0061630, GO:0044877, GO:0044390, GO:0042802, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, protein-containing complex binding, ubiquitin-like protein conjugating enzyme binding, identical protein binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:2000785, GO:1904380, GO:0071712, GO:0071712, GO:0070936, GO:0070534, GO:0055085, GO:0044257, GO:0036503, GO:0031648, GO:0030433, GO:0010507, GO:0009617, GO:0006511, regulation of autophagosome assembly, endoplasmic reticulum mannose trimming, ER-associated misfolded protein catabolic process, ER-associated misfolded protein catabolic process, protein K48-linked ubiquitination, protein K63-linked ubiquitination, transmembrane transport, cellular protein catabolic process, ERAD pathway, protein destabilization, ubiquitin-dependent ERAD pathway, negative regulation of autophagy, response to bacterium, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000204310 chr6 32168212 32178096 - AGPAT1 protein_coding This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 10554 GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005783, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0005515, GO:0003841, GO:0003841, GO:0003841, protein binding, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, 1-acylglycerol-3-phosphate O-acyltransferase activity, GO:0031325, GO:0016024, GO:0006654, GO:0006654, GO:0006654, GO:0006644, GO:0001961, GO:0001819, positive regulation of cellular metabolic process, CDP-diacylglycerol biosynthetic process, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, phosphatidic acid biosynthetic process, phospholipid metabolic process, positive regulation of cytokine-mediated signaling pathway, positive regulation of cytokine production, 58 57 146 19 20 28 22 14 45 ENSG00000204311 chr2 178451346 178461409 + PJVK protein_coding The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]. 494513 GO:0120044, GO:0043025, GO:0035253, GO:0030864, GO:0005778, GO:0005737, stereocilium base, neuronal cell body, ciliary rootlet, cortical actin cytoskeleton, peroxisomal membrane, cytoplasm, GO:1900063, GO:0120045, GO:0097468, GO:0050910, GO:0007605, GO:0007605, GO:0000425, GO:0000302, regulation of peroxisome organization, stereocilium maintenance, programmed cell death in response to reactive oxygen species, detection of mechanical stimulus involved in sensory perception of sound, sensory perception of sound, sensory perception of sound, pexophagy, response to reactive oxygen species, 0 1 6 4 2 0 3 0 0 ENSG00000204314 chr6 32148359 32153083 - PRRT1 protein_coding 80863 GO:0098839, GO:0030672, GO:0016021, GO:0016020, postsynaptic density membrane, synaptic vesicle membrane, integral component of membrane, membrane, GO:0030545, receptor regulator activity, GO:2000311, GO:0060291, GO:0050808, GO:0008104, GO:0007611, regulation of AMPA receptor activity, long-term synaptic potentiation, synapse organization, protein localization, learning or memory, 0 0 0 0 0 0 0 0 0 ENSG00000204315 chr6 32128707 32130291 - FKBPL protein_coding The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008]. 63943 GO:0005829, GO:0005576, cytosol, extracellular region, GO:0005515, protein binding, GO:1905553, GO:0050821, GO:0009314, regulation of blood vessel branching, protein stabilization, response to radiation, 0 0 0 0 0 0 0 0 0 ENSG00000204316 chr17 75898643 75905413 - MRPL38 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 64978 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 3 6 10 5 3 8 9 0 1 ENSG00000204323 chr17 75633434 75641404 + SMIM5 protein_coding 643008 GO:0016021, integral component of membrane, GO:0005515, protein binding, 21 16 33 20 9 24 29 13 15 ENSG00000204334 chr2 170783786 170798971 + ERICH2 protein_coding 285141 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204335 chr2 170715351 170718078 + SP5 protein_coding 389058 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0071407, GO:0060349, GO:0036342, GO:0006357, GO:0000122, cellular response to organic cyclic compound, bone morphogenesis, post-anal tail morphogenesis, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204338 chr6 32005636 32008451 + CYP21A1P transcribed_unprocessed_pseudogene 3 10 7 7 15 3 7 2 6 ENSG00000204344 chr6 31971091 31982821 + STK19 protein_coding This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]. 8859 GO:0016607, GO:0005634, nuclear speck, nucleus, GO:0106311, GO:0106310, GO:0031267, GO:0031267, GO:0005524, GO:0004674, GO:0004674, protein threonine kinase activity, protein serine kinase activity, small GTPase binding, small GTPase binding, ATP binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, GO:0046579, GO:0046579, GO:0006468, GO:0006468, positive regulation of Ras protein signal transduction, positive regulation of Ras protein signal transduction, protein phosphorylation, protein phosphorylation, 0 0 0 0 1 0 1 0 0 ENSG00000204345 chr17 74579365 74592283 - CD300LD protein_coding 100131439 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0050776, GO:0002376, regulation of immune response, immune system process, 52 4 7 4 0 0 7 1 3 ENSG00000204347 chr17 74356416 74361946 - BTBD17 protein_coding 388419 GO:0005886, GO:0005737, GO:0005576, plasma membrane, cytoplasm, extracellular region, GO:0045071, GO:0009615, negative regulation of viral genome replication, response to virus, 0 0 0 0 0 0 0 0 0 ENSG00000204348 chr6 31969810 31972292 - DXO protein_coding This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq, Jul 2008]. 1797 GO:0005886, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, plasma membrane, cytosol, cytosol, nucleoplasm, nucleus, nucleus, GO:0110152, GO:0034353, GO:0034353, GO:0008409, GO:0003729, GO:0000287, GO:0000166, RNA NAD-cap (NAD-forming) hydrolase activity, RNA pyrophosphohydrolase activity, RNA pyrophosphohydrolase activity, 5'-3' exonuclease activity, mRNA binding, magnesium ion binding, nucleotide binding, GO:0110155, GO:0110155, GO:0090305, GO:0090305, GO:0071028, GO:0050779, GO:0006402, GO:0006402, GO:0000956, NAD-cap decapping, NAD-cap decapping, nucleic acid phosphodiester bond hydrolysis, nucleic acid phosphodiester bond hydrolysis, nuclear mRNA surveillance, RNA destabilization, mRNA catabolic process, mRNA catabolic process, nuclear-transcribed mRNA catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000204351 chr6 31959080 31969755 + SKIV2L protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]. 6499 GO:0055087, GO:0055087, GO:0005829, GO:0005634, Ski complex, Ski complex, cytosol, nucleus, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, GO:0070478, GO:0043928, GO:0006401, nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay, exonucleolytic catabolism of deadenylated mRNA, RNA catabolic process, 2 0 62 0 0 0 0 0 1 ENSG00000204352 chr9 93318199 93346414 - C9orf129 protein_coding 445577 GO:0005634, nucleus, 4 2 18 2 6 4 4 8 5 ENSG00000204356 chr6 31952087 31959110 - NELFE protein_coding The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]. 7936 GO:0032021, GO:0032021, GO:0016604, GO:0005886, GO:0005654, GO:0005654, GO:0005634, NELF complex, NELF complex, nuclear body, plasma membrane, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003682, protein binding, RNA binding, RNA binding, chromatin binding, GO:1900364, GO:0070374, GO:0051571, GO:0050434, GO:0045944, GO:0034244, GO:0006368, GO:0006366, negative regulation of mRNA polyadenylation, positive regulation of ERK1 and ERK2 cascade, positive regulation of histone H3-K4 methylation, positive regulation of viral transcription, positive regulation of transcription by RNA polymerase II, negative regulation of transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 2 1 0 1 2 3 0 1 0 ENSG00000204361 chr11 114678386 114706933 + NXPE2 protein_coding 120406 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204362 chr1 17189783 17197617 + AL590644.1 lincRNA 400743 0 0 0 1 0 0 0 0 0 ENSG00000204363 chrX 52796144 52798101 - SPANXN5 protein_coding 494197 0 0 0 0 0 0 0 0 0 ENSG00000204366 chr6 31899607 31901992 - ZBTB12 protein_coding 221527 GO:0005654, nucleoplasm, GO:1990837, GO:0046872, GO:0005515, GO:0001227, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204368 chrX 48212791 48218010 + AC245047.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204370 chr11 112086773 112120013 + SDHD protein_coding This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]. 6392 GO:0016021, GO:0005749, GO:0005749, GO:0005743, GO:0005743, GO:0005743, GO:0005740, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone), mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial envelope, mitochondrion, GO:0048039, GO:0048039, GO:0046872, GO:0020037, GO:0020037, GO:0009055, GO:0005515, GO:0000104, ubiquinone binding, ubiquinone binding, metal ion binding, heme binding, heme binding, electron transfer activity, protein binding, succinate dehydrogenase activity, GO:0006121, GO:0006099, GO:0006099, GO:0006099, GO:0006099, mitochondrial electron transport, succinate to ubiquinone, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, tricarboxylic acid cycle, 391 351 372 166 263 248 156 270 161 ENSG00000204371 chr6 31879759 31897687 - EHMT2 protein_coding This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 10919 GO:0016607, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear speck, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990841, GO:0070742, GO:0046976, GO:0046974, GO:0018024, GO:0018024, GO:0016279, GO:0008270, GO:0005515, GO:0002039, GO:0001226, promoter-specific chromatin binding, C2H2 zinc finger domain binding, histone methyltransferase activity (H3-K27 specific), histone methyltransferase activity (H3-K9 specific), histone-lysine N-methyltransferase activity, histone-lysine N-methyltransferase activity, protein-lysine N-methyltransferase activity, zinc ion binding, protein binding, p53 binding, RNA polymerase II transcription corepressor binding, GO:1901796, GO:0070734, GO:0070317, GO:0051567, GO:0034968, GO:0018027, GO:0016571, GO:0009267, GO:0006306, GO:0006275, GO:0000122, regulation of signal transduction by p53 class mediator, histone H3-K27 methylation, negative regulation of G0 to G1 transition, histone H3-K9 methylation, histone lysine methylation, peptidyl-lysine dimethylation, histone methylation, cellular response to starvation, DNA methylation, regulation of DNA replication, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204379 chrX 52495676 52500812 + XAGE1A protein_coding This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]. 653220 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204380 chr2 158658337 158735002 - PKP4-AS1 antisense 100129029 23 25 24 13 23 14 23 19 24 ENSG00000204381 chr11 111540280 111561745 + LAYN protein_coding 143903 GO:0016021, GO:0009986, GO:0005925, GO:0005925, GO:0001726, integral component of membrane, cell surface, focal adhesion, focal adhesion, ruffle, GO:0030246, GO:0005540, GO:0005540, carbohydrate binding, hyaluronic acid binding, hyaluronic acid binding, 0 0 0 0 0 0 2 0 0 ENSG00000204382 chrX 52512077 52520803 - XAGE1B protein_coding This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]. 653067 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204385 chr6 31863192 31879046 - SLC44A4 protein_coding The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. 80736 GO:0070062, GO:0016324, GO:0016021, GO:0016020, GO:0005886, GO:0005886, GO:0005886, extracellular exosome, apical plasma membrane, integral component of membrane, membrane, plasma membrane, plasma membrane, plasma membrane, GO:0090422, GO:0090422, GO:0022857, GO:0015220, thiamine pyrophosphate transmembrane transporter activity, thiamine pyrophosphate transmembrane transporter activity, transmembrane transporter activity, choline transmembrane transporter activity, GO:0061526, GO:0055085, GO:0055085, GO:0035675, GO:0032475, GO:0030974, GO:0030974, GO:0030974, GO:0030307, GO:0015871, GO:0015871, GO:0008292, GO:0006656, acetylcholine secretion, transmembrane transport, transmembrane transport, neuromast hair cell development, otolith formation, thiamine pyrophosphate transmembrane transport, thiamine pyrophosphate transmembrane transport, thiamine pyrophosphate transmembrane transport, positive regulation of cell growth, choline transport, choline transport, acetylcholine biosynthetic process, phosphatidylcholine biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000204386 chr6 31857659 31862906 - NEU1 protein_coding The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]. 4758 GO:0070062, GO:0043231, GO:0043231, GO:0043202, GO:0035580, GO:0030054, GO:0016020, GO:0005886, GO:0005765, GO:0005764, GO:0005764, GO:0005737, GO:0005576, extracellular exosome, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, lysosomal lumen, specific granule lumen, cell junction, membrane, plasma membrane, lysosomal membrane, lysosome, lysosome, cytoplasm, extracellular region, GO:0052796, GO:0052795, GO:0052794, GO:0016997, GO:0005515, GO:0004308, GO:0004308, GO:0004308, exo-alpha-(2->8)-sialidase activity, exo-alpha-(2->6)-sialidase activity, exo-alpha-(2->3)-sialidase activity, alpha-sialidase activity, protein binding, exo-alpha-sialidase activity, exo-alpha-sialidase activity, exo-alpha-sialidase activity, GO:0043312, GO:0009313, GO:0009313, GO:0006689, GO:0006687, neutrophil degranulation, oligosaccharide catabolic process, oligosaccharide catabolic process, ganglioside catabolic process, glycosphingolipid metabolic process, 0 0 0 1 1 0 0 1 1 ENSG00000204387 chr6 31834608 31839766 + C6orf48 protein_coding 50854 0 0 0 0 0 0 0 0 0 ENSG00000204388 chr6 31827735 31830255 + HSPA1B protein_coding This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]. 3304 GO:1990904, GO:1904813, GO:0072562, GO:0070062, GO:0048471, GO:0032991, GO:0031982, GO:0016607, GO:0016235, GO:0016234, GO:0008180, GO:0005925, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005783, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005576, ribonucleoprotein complex, ficolin-1-rich granule lumen, blood microparticle, extracellular exosome, perinuclear region of cytoplasm, protein-containing complex, vesicle, nuclear speck, aggresome, inclusion body, COP9 signalosome, focal adhesion, plasma membrane, cytosol, cytosol, cytosol, centriole, centrosome, endoplasmic reticulum, mitochondrion, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular region, GO:0055131, GO:0051787, GO:0051082, GO:0051082, GO:0051082, GO:0051082, GO:0047485, GO:0044183, GO:0044183, GO:0042826, GO:0031625, GO:0031625, GO:0031072, GO:0031072, GO:0019899, GO:0016887, GO:0016887, GO:0005524, GO:0005524, GO:0005515, GO:0005102, GO:0003723, GO:0001664, GO:0001618, C3HC4-type RING finger domain binding, misfolded protein binding, unfolded protein binding, unfolded protein binding, unfolded protein binding, unfolded protein binding, protein N-terminus binding, protein folding chaperone, protein folding chaperone, histone deacetylase binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, heat shock protein binding, heat shock protein binding, enzyme binding, ATPase activity, ATPase activity, ATP binding, ATP binding, protein binding, signaling receptor binding, RNA binding, G protein-coupled receptor binding, virus receptor activity, GO:2001240, GO:1903265, GO:1901673, GO:1901673, GO:1900034, GO:0090084, GO:0090063, GO:0070434, GO:0070370, GO:0060548, GO:0060548, GO:0051092, GO:0051085, GO:0050821, GO:0050821, GO:0046718, GO:0046034, GO:0045648, GO:0043312, GO:0043066, GO:0043066, GO:0042026, GO:0042026, GO:0042026, GO:0034620, GO:0034605, GO:0034599, GO:0032757, GO:0032436, GO:0031397, GO:0031396, GO:0030308, GO:0016192, GO:0010941, GO:0010628, GO:0008285, GO:0006402, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of tumor necrosis factor-mediated signaling pathway, regulation of mitotic spindle assembly, regulation of mitotic spindle assembly, regulation of cellular response to heat, negative regulation of inclusion body assembly, positive regulation of microtubule nucleation, positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, cellular heat acclimation, negative regulation of cell death, negative regulation of cell death, positive regulation of NF-kappaB transcription factor activity, chaperone cofactor-dependent protein refolding, protein stabilization, protein stabilization, viral entry into host cell, ATP metabolic process, positive regulation of erythrocyte differentiation, neutrophil degranulation, negative regulation of apoptotic process, negative regulation of apoptotic process, protein refolding, protein refolding, protein refolding, cellular response to unfolded protein, cellular response to heat, cellular response to oxidative stress, positive regulation of interleukin-8 production, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, regulation of protein ubiquitination, negative regulation of cell growth, vesicle-mediated transport, regulation of cell death, positive regulation of gene expression, negative regulation of cell population proliferation, mRNA catabolic process, 0 0 0 1 6 3 3 2 3 ENSG00000204389 chr6 31815464 31817946 + HSPA1A protein_coding This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]. 3303 GO:1990904, GO:1904813, GO:0072562, GO:0070062, GO:0048471, GO:0032991, GO:0031982, GO:0016607, GO:0016235, GO:0016234, GO:0008180, GO:0008180, GO:0005925, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005814, GO:0005813, GO:0005783, GO:0005739, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005576, ribonucleoprotein complex, ficolin-1-rich granule lumen, blood microparticle, extracellular exosome, perinuclear region of cytoplasm, protein-containing complex, vesicle, nuclear speck, aggresome, inclusion body, COP9 signalosome, COP9 signalosome, focal adhesion, plasma membrane, cytosol, cytosol, cytosol, centriole, centrosome, endoplasmic reticulum, mitochondrion, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular region, GO:0097718, GO:0055131, GO:0051787, GO:0051787, GO:0051082, GO:0051082, GO:0051082, GO:0051082, GO:0047485, GO:0045296, GO:0044183, GO:0044183, GO:0042826, GO:0031625, GO:0031625, GO:0031249, GO:0031072, GO:0031072, GO:0019899, GO:0016887, GO:0016887, GO:0005524, GO:0005524, GO:0005515, GO:0005102, GO:0003723, GO:0003714, GO:0001664, GO:0001618, disordered domain specific binding, C3HC4-type RING finger domain binding, misfolded protein binding, misfolded protein binding, unfolded protein binding, unfolded protein binding, unfolded protein binding, unfolded protein binding, protein N-terminus binding, cadherin binding, protein folding chaperone, protein folding chaperone, histone deacetylase binding, ubiquitin protein ligase binding, ubiquitin protein ligase binding, denatured protein binding, heat shock protein binding, heat shock protein binding, enzyme binding, ATPase activity, ATPase activity, ATP binding, ATP binding, protein binding, signaling receptor binding, RNA binding, transcription corepressor activity, G protein-coupled receptor binding, virus receptor activity, GO:2001240, GO:1903265, GO:1902380, GO:1902236, GO:1901673, GO:1901673, GO:1901029, GO:1900034, GO:0097201, GO:0090084, GO:0090063, GO:0070434, GO:0070370, GO:0060548, GO:0051131, GO:0051092, GO:0051085, GO:0050821, GO:0050821, GO:0050821, GO:0046718, GO:0046034, GO:0045648, GO:0043488, GO:0043312, GO:0043066, GO:0043066, GO:0042026, GO:0042026, GO:0042026, GO:0034620, GO:0034620, GO:0034605, GO:0034599, GO:0033120, GO:0032757, GO:0032436, GO:0032436, GO:0031397, GO:0031396, GO:0030512, GO:0030308, GO:0016192, GO:0010941, GO:0010628, GO:0008285, GO:0007041, GO:0006986, GO:0006402, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of tumor necrosis factor-mediated signaling pathway, positive regulation of endoribonuclease activity, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, regulation of mitotic spindle assembly, regulation of mitotic spindle assembly, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, regulation of cellular response to heat, negative regulation of transcription from RNA polymerase II promoter in response to stress, negative regulation of inclusion body assembly, positive regulation of microtubule nucleation, positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway, cellular heat acclimation, negative regulation of cell death, chaperone-mediated protein complex assembly, positive regulation of NF-kappaB transcription factor activity, chaperone cofactor-dependent protein refolding, protein stabilization, protein stabilization, protein stabilization, viral entry into host cell, ATP metabolic process, positive regulation of erythrocyte differentiation, regulation of mRNA stability, neutrophil degranulation, negative regulation of apoptotic process, negative regulation of apoptotic process, protein refolding, protein refolding, protein refolding, cellular response to unfolded protein, cellular response to unfolded protein, cellular response to heat, cellular response to oxidative stress, positive regulation of RNA splicing, positive regulation of interleukin-8 production, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein ubiquitination, regulation of protein ubiquitination, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell growth, vesicle-mediated transport, regulation of cell death, positive regulation of gene expression, negative regulation of cell population proliferation, lysosomal transport, response to unfolded protein, mRNA catabolic process, 0 0 0 3 39 0 0 2 3 ENSG00000204390 chr6 31809619 31815065 - HSPA1L protein_coding This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]. 3305 GO:0072562, GO:0044297, GO:0008180, GO:0008180, GO:0005886, GO:0005829, GO:0005829, GO:0005759, GO:0005737, GO:0005654, GO:0005634, GO:0002199, blood microparticle, cell body, COP9 signalosome, COP9 signalosome, plasma membrane, cytosol, cytosol, mitochondrial matrix, cytoplasm, nucleoplasm, nucleus, zona pellucida receptor complex, GO:0051787, GO:0051082, GO:0051082, GO:0044183, GO:0031625, GO:0031625, GO:0031072, GO:0031072, GO:0016887, GO:0005524, GO:0005515, misfolded protein binding, unfolded protein binding, unfolded protein binding, protein folding chaperone, ubiquitin protein ligase binding, ubiquitin protein ligase binding, heat shock protein binding, heat shock protein binding, ATPase activity, ATP binding, protein binding, GO:1903955, GO:1900034, GO:0051085, GO:0042026, GO:0042026, GO:0034620, GO:0016192, GO:0007339, positive regulation of protein targeting to mitochondrion, regulation of cellular response to heat, chaperone cofactor-dependent protein refolding, protein refolding, protein refolding, cellular response to unfolded protein, vesicle-mediated transport, binding of sperm to zona pellucida, 0 0 0 0 0 0 0 0 0 ENSG00000204392 chr6 31797396 31806984 - LSM2 protein_coding This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011]. 57819 GO:1990726, GO:0120115, GO:0071013, GO:0071013, GO:0071011, GO:0071005, GO:0046540, GO:0046540, GO:0005829, GO:0005737, GO:0005688, GO:0005654, GO:0005654, GO:0005634, GO:0000932, Lsm1-7-Pat1 complex, Lsm2-8 complex, catalytic step 2 spliceosome, catalytic step 2 spliceosome, precatalytic spliceosome, U2-type precatalytic spliceosome, U4/U6 x U5 tri-snRNP complex, U4/U6 x U5 tri-snRNP complex, cytosol, cytoplasm, U6 snRNP, nucleoplasm, nucleoplasm, nucleus, P-body, GO:0031267, GO:0017070, GO:0005515, GO:0003723, GO:0003723, small GTPase binding, U6 snRNA binding, protein binding, RNA binding, RNA binding, GO:0043928, GO:0006402, GO:0000398, GO:0000398, GO:0000398, GO:0000398, GO:0000244, exonucleolytic catabolism of deadenylated mRNA, mRNA catabolic process, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, spliceosomal tri-snRNP complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000204393 chr20 32564992 32608893 + NOL4L-DT lincRNA 149950 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204394 chr6 31777518 31795953 - VARS protein_coding Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]. 7407 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0005524, GO:0005515, GO:0004832, GO:0004832, GO:0004832, GO:0002161, ATP binding, protein binding, valine-tRNA ligase activity, valine-tRNA ligase activity, valine-tRNA ligase activity, aminoacyl-tRNA editing activity, GO:0106074, GO:0006438, GO:0006418, aminoacyl-tRNA metabolism involved in translational fidelity, valyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 0 0 0 0 0 1 0 0 0 ENSG00000204396 chr6 31765590 31777294 - VWA7 protein_coding 80737 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 1 0 0 0 0 0 0 0 0 ENSG00000204397 chr11 105041326 105101431 - CARD16 protein_coding 114769 GO:0097179, GO:0032991, GO:0032991, protease inhibitor complex, protein-containing complex, protein-containing complex, GO:0089720, GO:0089720, GO:0050700, GO:0042802, GO:0019900, GO:0005515, GO:0004869, caspase binding, caspase binding, CARD domain binding, identical protein binding, kinase binding, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0097340, GO:0071494, GO:0071456, GO:0071222, GO:0051092, GO:0043154, GO:0043123, GO:0032691, GO:0032091, GO:0031665, GO:0010804, inhibition of cysteine-type endopeptidase activity, cellular response to UV-C, cellular response to hypoxia, cellular response to lipopolysaccharide, positive regulation of NF-kappaB transcription factor activity, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of interleukin-1 beta production, negative regulation of protein binding, negative regulation of lipopolysaccharide-mediated signaling pathway, negative regulation of tumor necrosis factor-mediated signaling pathway, 1175 784 1532 492 750 954 715 805 950 ENSG00000204398 chr13 111588201 111672608 + AL359649.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000204399 chr2 127931327 127931440 + AC012306.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204403 chr11 104885718 104898670 - CASP12 polymorphic_pseudogene Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011]. 100506742 GO:0097169, GO:0072559, GO:0072557, GO:0005783, GO:0005737, AIM2 inflammasome complex, NLRP3 inflammasome complex, IPAF inflammasome complex, endoplasmic reticulum, cytoplasm, GO:0097200, GO:0097199, GO:0097153, GO:0097153, cysteine-type endopeptidase activity involved in execution phase of apoptosis, cysteine-type endopeptidase activity involved in apoptotic signaling pathway, cysteine-type endopeptidase activity involved in apoptotic process, cysteine-type endopeptidase activity involved in apoptotic process, GO:0097194, GO:0097190, GO:0050727, GO:0006919, GO:0006915, GO:0006508, execution phase of apoptosis, apoptotic signaling pathway, regulation of inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000204406 chr2 148021011 148516971 + MBD5 protein_coding This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]. 55777 GO:0070062, GO:0030496, GO:0010369, GO:0010369, GO:0005694, GO:0005654, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, midbody, chromocenter, chromocenter, chromosome, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0003682, GO:0003682, GO:0003677, chromatin binding, chromatin binding, DNA binding, GO:0060399, GO:0050795, GO:0042593, GO:0040014, GO:0016579, GO:0007399, positive regulation of growth hormone receptor signaling pathway, regulation of behavior, glucose homeostasis, regulation of multicellular organism growth, protein deubiquitination, nervous system development, 357 400 444 238 299 291 302 283 272 ENSG00000204410 chr6 31739948 31762834 + MSH5 protein_coding This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]. 4439 GO:0000228, nuclear chromosome, GO:0030983, GO:0008094, GO:0005524, GO:0005515, mismatched DNA binding, DNA-dependent ATPase activity, ATP binding, protein binding, GO:0007131, GO:0000710, reciprocal meiotic recombination, meiotic mismatch repair, 0 0 0 0 0 0 0 0 0 ENSG00000204414 chr17 63909597 63918838 - CSHL1 protein_coding The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 1444 GO:0005615, GO:0005575, extracellular space, cellular_component, GO:0046872, GO:0008083, GO:0005179, GO:0005179, GO:0005131, metal ion binding, growth factor activity, hormone activity, hormone activity, growth hormone receptor binding, GO:0060396, GO:0048513, GO:0046427, GO:0045927, GO:0042531, GO:0031667, GO:0008150, growth hormone receptor signaling pathway, animal organ development, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of growth, positive regulation of tyrosine phosphorylation of STAT protein, response to nutrient levels, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000204420 chr6 31718594 31726714 + MPIG6B protein_coding This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 80739 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005783, GO:0005654, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, Golgi apparatus, endoplasmic reticulum, nucleoplasm, GO:0008201, GO:0005515, heparin binding, protein binding, GO:0035855, GO:0035855, GO:0030220, GO:0030220, GO:0030219, GO:0030218, GO:0030168, GO:0009968, GO:0007596, GO:0007596, GO:0007229, GO:0007229, megakaryocyte development, megakaryocyte development, platelet formation, platelet formation, megakaryocyte differentiation, erythrocyte differentiation, platelet activation, negative regulation of signal transduction, blood coagulation, blood coagulation, integrin-mediated signaling pathway, integrin-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204421 chr6 31718648 31721845 - LY6G6C protein_coding LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]. 80740 GO:0032991, GO:0032991, GO:0031225, GO:0009897, GO:0009897, GO:0005886, GO:0005576, protein-containing complex, protein-containing complex, anchored component of membrane, external side of plasma membrane, external side of plasma membrane, plasma membrane, extracellular region, GO:0042802, GO:0005515, identical protein binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204422 chr6 31686962 31714072 - AL662899.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000204424 chr6 31706885 31710595 + LY6G6F protein_coding The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]. 259215 GO:0031092, GO:0016021, GO:0005886, platelet alpha granule membrane, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0002576, platelet degranulation, 0 0 0 0 0 0 0 0 0 ENSG00000204427 chr6 31686949 31703444 - ABHD16A protein_coding A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]. 7920 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0047372, GO:0047372, GO:0008474, GO:0005515, GO:0004622, GO:0004620, GO:0004620, acylglycerol lipase activity, acylglycerol lipase activity, palmitoyl-(protein) hydrolase activity, protein binding, lysophospholipase activity, phospholipase activity, phospholipase activity, GO:1905344, GO:0098734, GO:0052651, GO:0052651, GO:0006660, GO:0006660, prostaglandin catabolic process, macromolecule depalmitoylation, monoacylglycerol catabolic process, monoacylglycerol catabolic process, phosphatidylserine catabolic process, phosphatidylserine catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000204428 chr6 31676684 31684040 - LY6G5C protein_coding LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]. 80741 GO:0032991, GO:0009897, GO:0009897, GO:0005576, protein-containing complex, external side of plasma membrane, external side of plasma membrane, extracellular region, GO:0042802, identical protein binding, 0 0 0 1 0 0 0 0 0 ENSG00000204429 chr9 88180673 88181447 + AL451142.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204434 chr2 131591752 131627266 + POTEKP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204435 chr6 31665236 31670343 + CSNK2B protein_coding This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. 1460 GO:1904813, GO:0070062, GO:0034774, GO:0031519, GO:0016363, GO:0005956, GO:0005956, GO:0005956, GO:0005929, GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000785, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, PcG protein complex, nuclear matrix, protein kinase CK2 complex, protein kinase CK2 complex, protein kinase CK2 complex, cilium, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular region, chromatin, GO:0046872, GO:0043021, GO:0042802, GO:0019904, GO:0019887, GO:0019887, GO:0008134, GO:0005515, GO:0005102, GO:0004674, GO:0004674, GO:0003682, metal ion binding, ribonucleoprotein complex binding, identical protein binding, protein domain specific binding, protein kinase regulator activity, protein kinase regulator activity, transcription factor binding, protein binding, signaling receptor binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, chromatin binding, GO:1901796, GO:0097421, GO:0061154, GO:0051101, GO:0045859, GO:0043537, GO:0043312, GO:0034622, GO:0033574, GO:0033211, GO:0032927, GO:0018107, GO:0016236, GO:0016055, GO:0010862, GO:0008285, GO:0007165, GO:0006656, GO:0006457, regulation of signal transduction by p53 class mediator, liver regeneration, endothelial tube morphogenesis, regulation of DNA binding, regulation of protein kinase activity, negative regulation of blood vessel endothelial cell migration, neutrophil degranulation, cellular protein-containing complex assembly, response to testosterone, adiponectin-activated signaling pathway, positive regulation of activin receptor signaling pathway, peptidyl-threonine phosphorylation, macroautophagy, Wnt signaling pathway, positive regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of cell population proliferation, signal transduction, phosphatidylcholine biosynthetic process, protein folding, 1 0 0 0 0 0 0 1 0 ENSG00000204437 chr10 79870375 79873903 - CTSLP6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204438 chr6 31661229 31666283 - GPANK1 protein_coding This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]. 7918 GO:0005515, GO:0003676, protein binding, nucleic acid binding, 0 0 0 0 0 0 0 0 0 ENSG00000204439 chr6 31658298 31660772 - C6orf47 protein_coding 57827 GO:0005515, protein binding, 0 0 0 0 2 1 0 1 0 ENSG00000204442 chr13 107163510 107866735 - FAM155A protein_coding 728215 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0015275, stretch-activated, cation-selective, calcium channel activity, GO:0098703, calcium ion import across plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000204444 chr6 31652416 31658210 + APOM protein_coding The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012]. 55937 GO:0034366, GO:0034365, GO:0034364, GO:0034364, GO:0034362, GO:0034362, GO:0034361, GO:0034361, GO:0005576, spherical high-density lipoprotein particle, discoidal high-density lipoprotein particle, high-density lipoprotein particle, high-density lipoprotein particle, low-density lipoprotein particle, low-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, extracellular region, GO:0016209, GO:0005543, GO:0005543, GO:0005319, GO:0005319, antioxidant activity, phospholipid binding, phospholipid binding, lipid transporter activity, lipid transporter activity, GO:0098869, GO:0043691, GO:0042632, GO:0034445, GO:0034384, GO:0034384, GO:0034380, GO:0034380, GO:0034375, GO:0034375, GO:0033344, GO:0033344, GO:0033344, GO:0009749, GO:0001523, cellular oxidant detoxification, reverse cholesterol transport, cholesterol homeostasis, negative regulation of plasma lipoprotein oxidation, high-density lipoprotein particle clearance, high-density lipoprotein particle clearance, high-density lipoprotein particle assembly, high-density lipoprotein particle assembly, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, cholesterol efflux, cholesterol efflux, cholesterol efflux, response to glucose, retinoid metabolic process, 0 1 0 0 0 0 0 1 0 ENSG00000204446 chr9 87148644 87159556 + C9orf170 lincRNA 401535 0 0 0 0 0 0 0 0 0 ENSG00000204449 chr11 90031106 90042025 + TRIM49C protein_coding 642612 GO:0005737, cytoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000204450 chr11 89968502 89975228 + TRIM64 protein_coding 120146 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000204455 chr11 89854953 89862893 + TRIM51BP unprocessed_pseudogene 0 0 2 0 0 0 0 2 0 ENSG00000204456 chr11 89766440 89768836 - AP003122.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204460 chr2 129242173 129273848 - LINC01854 lincRNA 151121 0 0 0 0 0 0 0 0 0 ENSG00000204463 chr6 31639028 31652705 - BAG6 protein_coding This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 7917 GO:0071818, GO:0071818, GO:0070062, GO:0043231, GO:0016020, GO:0016020, GO:0005829, GO:0005737, GO:0005654, GO:0005634, BAT3 complex, BAT3 complex, extracellular exosome, intracellular membrane-bounded organelle, membrane, membrane, cytosol, cytoplasm, nucleoplasm, nucleus, GO:1990381, GO:0070628, GO:0051787, GO:0051787, GO:0043022, GO:0031625, GO:0031593, GO:0031593, GO:0005515, GO:0005102, ubiquitin-specific protease binding, proteasome binding, misfolded protein binding, misfolded protein binding, ribosome binding, ubiquitin protein ligase binding, polyubiquitin modification-dependent protein binding, polyubiquitin modification-dependent protein binding, protein binding, signaling receptor binding, GO:1904379, GO:1904378, GO:1904294, GO:0071816, GO:0071712, GO:0070059, GO:0061857, GO:0050821, GO:0045995, GO:0045861, GO:0042771, GO:0042127, GO:0032435, GO:0030433, GO:0030433, GO:0030433, GO:0030324, GO:0030154, GO:0030101, GO:0018393, GO:0010498, GO:0007420, GO:0007283, GO:0007130, GO:0006915, GO:0006511, GO:0006325, GO:0002429, GO:0001822, protein localization to cytosolic proteasome complex involved in ERAD pathway, maintenance of unfolded protein involved in ERAD pathway, positive regulation of ERAD pathway, tail-anchored membrane protein insertion into ER membrane, ER-associated misfolded protein catabolic process, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress, endoplasmic reticulum stress-induced pre-emptive quality control, protein stabilization, regulation of embryonic development, negative regulation of proteolysis, intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, regulation of cell population proliferation, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, lung development, cell differentiation, natural killer cell activation, internal peptidyl-lysine acetylation, proteasomal protein catabolic process, brain development, spermatogenesis, synaptonemal complex assembly, apoptotic process, ubiquitin-dependent protein catabolic process, chromatin organization, immune response-activating cell surface receptor signaling pathway, kidney development, 0 10 2 0 45 4 3 22 1 ENSG00000204464 chr1 15164344 15171317 - C1orf195 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000204469 chr6 31620720 31637771 + PRRC2A protein_coding A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]. 7916 GO:0070062, GO:0016020, GO:0005886, GO:0005829, GO:0005654, extracellular exosome, membrane, plasma membrane, cytosol, nucleoplasm, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0030154, cell differentiation, 8 14 14 4 6 2 5 5 2 ENSG00000204471 chr17 18393480 18400961 + TBC1D3P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204472 chr6 31615184 31617021 + AIF1 protein_coding This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]. 199 GO:0048471, GO:0043204, GO:0032587, GO:0032587, GO:0030027, GO:0005884, GO:0005884, GO:0005884, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0001891, GO:0001726, perinuclear region of cytoplasm, perikaryon, ruffle membrane, ruffle membrane, lamellipodium, actin filament, actin filament, actin filament, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, phagocytic cup, ruffle, GO:0051015, GO:0051015, GO:0005515, GO:0005509, GO:0005509, GO:0003674, actin filament binding, actin filament binding, protein binding, calcium ion binding, calcium ion binding, molecular_function, GO:2000406, GO:1900087, GO:0097178, GO:0097178, GO:0097178, GO:0090271, GO:0090026, GO:0071677, GO:0071673, GO:0071672, GO:0071447, GO:0071346, GO:0071346, GO:0071315, GO:0051764, GO:0051602, GO:0051384, GO:0051017, GO:0051017, GO:0050921, GO:0048678, GO:0048662, GO:0048661, GO:0045429, GO:0043066, GO:0042102, GO:0034599, GO:0032870, GO:0032755, GO:0032722, GO:0031668, GO:0030335, GO:0030046, GO:0030041, GO:0021549, GO:0016601, GO:0014739, GO:0010629, GO:0010468, GO:0008284, GO:0006954, GO:0006954, GO:0006911, GO:0001934, GO:0001774, positive regulation of T cell migration, positive regulation of G1/S transition of mitotic cell cycle, ruffle assembly, ruffle assembly, ruffle assembly, positive regulation of fibroblast growth factor production, positive regulation of monocyte chemotaxis, positive regulation of mononuclear cell migration, positive regulation of smooth muscle cell chemotaxis, negative regulation of smooth muscle cell chemotaxis, cellular response to hydroperoxide, cellular response to interferon-gamma, cellular response to interferon-gamma, cellular response to morphine, actin crosslink formation, response to electrical stimulus, response to glucocorticoid, actin filament bundle assembly, actin filament bundle assembly, positive regulation of chemotaxis, response to axon injury, negative regulation of smooth muscle cell proliferation, positive regulation of smooth muscle cell proliferation, positive regulation of nitric oxide biosynthetic process, negative regulation of apoptotic process, positive regulation of T cell proliferation, cellular response to oxidative stress, cellular response to hormone stimulus, positive regulation of interleukin-6 production, positive regulation of chemokine production, cellular response to extracellular stimulus, positive regulation of cell migration, parallel actin filament bundle assembly, actin filament polymerization, cerebellum development, Rac protein signal transduction, positive regulation of muscle hyperplasia, negative regulation of gene expression, regulation of gene expression, positive regulation of cell population proliferation, inflammatory response, inflammatory response, phagocytosis, engulfment, positive regulation of protein phosphorylation, microglial cell activation, 0 0 0 0 0 0 0 0 0 ENSG00000204475 chr6 31588895 31592985 - NCR3 protein_coding The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]. 259197 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0050776, GO:0045954, GO:0045954, GO:0030101, GO:0030101, GO:0008037, GO:0006955, GO:0006954, GO:0002429, GO:0002429, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of natural killer cell mediated cytotoxicity, natural killer cell activation, natural killer cell activation, cell recognition, immune response, inflammatory response, immune response-activating cell surface receptor signaling pathway, immune response-activating cell surface receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204478 chr1 13410450 13421328 + PRAMEF20 protein_coding 645425 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000204479 chr1 13389632 13392629 + PRAMEF17 protein_coding 391004 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000204480 chr1 13369067 13371900 - PRAMEF19 protein_coding 645414 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000204481 chr1 13342034 13347134 - PRAMEF14 protein_coding 729528 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000204482 chr6 31586124 31588909 + LST1 protein_coding The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. 7940 GO:0016021, GO:0016021, GO:0005794, GO:0005737, GO:0000139, integral component of membrane, integral component of membrane, Golgi apparatus, cytoplasm, Golgi membrane, GO:0050672, GO:0016358, GO:0016358, GO:0009653, GO:0008360, GO:0006955, GO:0000902, negative regulation of lymphocyte proliferation, dendrite development, dendrite development, anatomical structure morphogenesis, regulation of cell shape, immune response, cell morphogenesis, 1 1 2 0 0 0 1 0 0 ENSG00000204498 chr6 31546870 31558829 + NFKBIL1 protein_coding This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]. 4795 GO:0005829, GO:0005654, GO:0005634, GO:0005634, cytosol, nucleoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:0071222, GO:0034122, GO:0034122, GO:0032720, GO:0032088, GO:0031665, GO:0007249, cellular response to lipopolysaccharide, negative regulation of toll-like receptor signaling pathway, negative regulation of toll-like receptor signaling pathway, negative regulation of tumor necrosis factor production, negative regulation of NF-kappaB transcription factor activity, negative regulation of lipopolysaccharide-mediated signaling pathway, I-kappaB kinase/NF-kappaB signaling, 0 1 0 0 0 0 0 0 0 ENSG00000204501 chr1 13315581 13322598 + PRAMEF15 protein_coding 653619 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000204505 chr1 13172455 13179464 + PRAMEF9 protein_coding 343070 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000204510 chr1 12916610 12920482 + PRAMEF7 protein_coding 441871 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000204511 chr6 31528717 31530232 + MCCD1 protein_coding 401250 GO:0005739, mitochondrion, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204514 chr19 57848731 57889074 - ZNF814 protein_coding 730051 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 460 467 507 484 723 591 533 432 454 ENSG00000204516 chr6 31494881 31511124 + MICB protein_coding This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 4277 GO:0016021, GO:0009986, GO:0009897, GO:0005886, GO:0005615, integral component of membrane, cell surface, external side of plasma membrane, plasma membrane, extracellular space, GO:0046703, natural killer cell lectin-like receptor binding, GO:0050776, GO:0050689, GO:0046629, GO:0032526, GO:0019835, GO:0016032, GO:0009408, GO:0006979, GO:0006955, GO:0002429, GO:0002250, regulation of immune response, negative regulation of defense response to virus by host, gamma-delta T cell activation, response to retinoic acid, cytolysis, viral process, response to heat, response to oxidative stress, immune response, immune response-activating cell surface receptor signaling pathway, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000204518 chr1 12644547 12667086 + AADACL4 protein_coding 343066 GO:0016021, integral component of membrane, GO:0052689, GO:0016787, carboxylic ester hydrolase activity, hydrolase activity, 0 0 0 0 0 0 0 0 0 ENSG00000204519 chr19 57681969 57717301 + ZNF551 protein_coding 90233 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 17 17 18 17 5 14 12 6 6 ENSG00000204520 chr6 31399784 31415315 + MICA protein_coding This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 100507436 GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005737, GO:0005615, GO:0005615, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, cytoplasm, extracellular space, extracellular space, GO:0046703, GO:0046703, GO:0030881, GO:0005515, natural killer cell lectin-like receptor binding, natural killer cell lectin-like receptor binding, beta-2-microglobulin binding, protein binding, GO:0051607, GO:0050776, GO:0046629, GO:0045953, GO:0042742, GO:0042267, GO:0032815, GO:0019835, GO:0016032, GO:0009408, GO:0006974, GO:0006955, GO:0002418, GO:0001913, defense response to virus, regulation of immune response, gamma-delta T cell activation, negative regulation of natural killer cell mediated cytotoxicity, defense response to bacterium, natural killer cell mediated cytotoxicity, negative regulation of natural killer cell activation, cytolysis, viral process, response to heat, cellular response to DNA damage stimulus, immune response, immune response to tumor cell, T cell mediated cytotoxicity, 11 12 16 6 18 3 8 1 0 ENSG00000204524 chr19 57240685 57255135 + ZNF805 protein_coding 390980 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 39 21 30 42 41 52 24 32 49 ENSG00000204525 chr6 31268749 31272130 - HLA-C protein_coding HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]. 3107 GO:0071556, GO:0070062, GO:0055038, GO:0042612, GO:0031901, GO:0030670, GO:0030667, GO:0016020, GO:0012507, GO:0009986, GO:0005887, GO:0005886, GO:0005794, GO:0005783, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, recycling endosome membrane, MHC class I protein complex, early endosome membrane, phagocytic vesicle membrane, secretory granule membrane, membrane, ER to Golgi transport vesicle membrane, cell surface, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0046977, GO:0042605, GO:0005515, TAP binding, peptide antigen binding, protein binding, GO:0060337, GO:0060333, GO:0050776, GO:0043312, GO:0016032, GO:0006955, GO:0002486, GO:0002480, GO:0002479, GO:0002474, GO:0002250, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, regulation of immune response, neutrophil degranulation, viral process, immune response, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, adaptive immune response, 20749 314 29861 11924 335 15905 13547 293 13727 ENSG00000204528 chr6 31173735 31177899 - PSORS1C3 sense_intronic 0 1 0 2 0 0 0 0 1 ENSG00000204529 chr11 76694041 76719801 - GUCY2EP transcribed_unprocessed_pseudogene 1 0 0 0 0 0 0 1 1 ENSG00000204531 chr6 31164337 31180731 - POU5F1 protein_coding This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]. 5460 GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0035198, GO:0031625, GO:0005515, GO:0003723, GO:0003700, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, miRNA binding, ubiquitin protein ligase binding, protein binding, RNA binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1902894, GO:0060965, GO:0045944, GO:0035019, GO:0035019, GO:0035019, GO:0010468, GO:0009786, GO:0009653, GO:0009611, GO:0006357, GO:0006357, GO:0006355, GO:0001824, GO:0001714, GO:0000122, negative regulation of pri-miRNA transcription by RNA polymerase II, negative regulation of gene silencing by miRNA, positive regulation of transcription by RNA polymerase II, somatic stem cell population maintenance, somatic stem cell population maintenance, somatic stem cell population maintenance, regulation of gene expression, regulation of asymmetric cell division, anatomical structure morphogenesis, response to wounding, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, blastocyst development, endodermal cell fate specification, negative regulation of transcription by RNA polymerase II, 1 0 0 3 0 0 3 0 0 ENSG00000204532 chr19 56202301 56209452 + ZSCAN5C protein_coding 649137 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 2 ENSG00000204536 chr6 31142439 31158238 - CCHCR1 protein_coding This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]. 54535 GO:0005829, GO:0005814, GO:0005814, GO:0005634, cytosol, centriole, centriole, nucleus, GO:0005515, protein binding, GO:0030154, GO:0007275, GO:0006611, cell differentiation, multicellular organism development, protein export from nucleus, 0 0 2 2 3 3 3 0 1 ENSG00000204538 chr6 31137536 31139350 - PSORS1C2 protein_coding 170680 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000204539 chr6 31115090 31120446 - CDSN protein_coding This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]. 1041 GO:0030057, GO:0030057, GO:0005911, GO:0005886, GO:0005576, GO:0001533, GO:0001533, desmosome, desmosome, cell-cell junction, plasma membrane, extracellular region, cornified envelope, cornified envelope, GO:0042803, GO:0042803, protein homodimerization activity, protein homodimerization activity, GO:1905716, GO:0098609, GO:0098609, GO:0070268, GO:0043589, GO:0030216, GO:0008544, GO:0007155, GO:0003336, negative regulation of cornification, cell-cell adhesion, cell-cell adhesion, cornification, skin morphogenesis, keratinocyte differentiation, epidermis development, cell adhesion, corneocyte desquamation, 0 0 0 0 0 0 0 0 0 ENSG00000204540 chr6 31114750 31140092 + PSORS1C1 protein_coding This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]. 170679 0 0 0 0 0 0 0 0 0 ENSG00000204542 chr6 31111223 31112559 - C6orf15 protein_coding 29113 GO:0031012, GO:0005576, GO:0005575, extracellular matrix, extracellular region, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0030198, GO:0008150, extracellular matrix organization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000204544 chr6 30983718 30989903 + MUC21 protein_coding This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017]. 394263 GO:0016021, GO:0005886, GO:0005886, GO:0005796, integral component of membrane, plasma membrane, plasma membrane, Golgi lumen, GO:0022408, GO:0016266, GO:0002223, negative regulation of cell-cell adhesion, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204547 chr20 31421436 31429180 - DEFB122 transcribed_unprocessed_pseudogene 245935 0 0 0 0 0 0 0 0 0 ENSG00000204548 chr20 31404845 31412838 - DEFB121 protein_coding This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]. 245934 GO:0005576, extracellular region, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000204555 chr20 30214765 30214976 - CFTRP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204556 chr20 26018832 26020684 + AL450124.1 unprocessed_pseudogene 0 0 0 0 0 0 1 0 5 ENSG00000204560 chr6 30653119 30673037 - DHX16 protein_coding DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]. 8449 GO:0071005, GO:0005681, GO:0005654, GO:0005654, GO:0005634, GO:0005622, U2-type precatalytic spliceosome, spliceosomal complex, nucleoplasm, nucleoplasm, nucleus, intracellular anatomical structure, GO:0016887, GO:0005524, GO:0005515, GO:0003724, GO:0003723, GO:0003723, ATPase activity, ATP binding, protein binding, RNA helicase activity, RNA binding, RNA binding, GO:0008380, GO:0000398, GO:0000398, GO:0000398, RNA splicing, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 0 0 0 0 2 0 0 0 0 ENSG00000204564 chr6 30647039 30653210 + C6orf136 protein_coding 221545 0 0 0 0 0 0 0 0 0 ENSG00000204568 chr6 30617709 30626395 + MRPS18B protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]. 28973 GO:0030054, GO:0005763, GO:0005763, GO:0005763, GO:0005743, GO:0005739, GO:0005739, GO:0005654, cell junction, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleoplasm, GO:0005515, GO:0003735, GO:0003735, protein binding, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 0 0 0 0 0 0 0 0 0 ENSG00000204569 chr6 30600400 30618612 - PPP1R10 protein_coding This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]. 5514 GO:0072357, GO:0016604, GO:0005654, GO:0005634, GO:0000785, GO:0000781, PTW/PP1 phosphatase complex, nuclear body, nucleoplasm, nucleus, chromatin, chromosome, telomeric region, GO:0046872, GO:0005515, GO:0004864, GO:0003723, GO:0003677, metal ion binding, protein binding, protein phosphatase inhibitor activity, RNA binding, DNA binding, GO:1904290, GO:0032515, GO:0032206, GO:0010667, GO:0006606, negative regulation of mitotic DNA damage checkpoint, negative regulation of phosphoprotein phosphatase activity, positive regulation of telomere maintenance, negative regulation of cardiac muscle cell apoptotic process, protein import into nucleus, 0 0 0 0 0 1 0 0 0 ENSG00000204571 chr11 71579714 71603353 - KRTAP5-11 protein_coding 440051 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000204572 chr11 71565563 71566738 + KRTAP5-10 protein_coding 387273 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000204574 chr6 30571376 30597179 + ABCF1 protein_coding The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]. 23 GO:0016020, GO:0005840, GO:0005829, GO:0005829, GO:0005654, GO:0005635, membrane, ribosome, cytosol, cytosol, nucleoplasm, nuclear envelope, GO:0016887, GO:0008135, GO:0005524, GO:0005515, GO:0003723, ATPase activity, translation factor activity, RNA binding, ATP binding, protein binding, RNA binding, GO:0055085, GO:0006954, GO:0006412, transmembrane transport, inflammatory response, translation, 0 0 0 0 0 0 2 0 0 ENSG00000204576 chr6 30556886 30563723 + PRR3 protein_coding 80742 GO:0046872, GO:0005515, GO:0003723, metal ion binding, protein binding, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000204577 chr19 54216278 54223506 - LILRB3 protein_coding This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 11025 GO:0030667, GO:0005887, GO:0005886, secretory granule membrane, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0004888, GO:0001540, signaling receptor activity, protein binding, transmembrane signaling receptor activity, amyloid-beta binding, GO:0045671, GO:0043312, GO:0007166, GO:0006952, GO:0002250, negative regulation of osteoclast differentiation, neutrophil degranulation, cell surface receptor signaling pathway, defense response, adaptive immune response, 28 834 21 20 403 5 10 479 5 ENSG00000204580 chr6 30876421 30900156 + DDR1 protein_coding Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]. 780 GO:0070062, GO:0043235, GO:0043235, GO:0005887, GO:0005886, GO:0005615, extracellular exosome, receptor complex, receptor complex, integral component of plasma membrane, plasma membrane, extracellular space, GO:0046872, GO:0038062, GO:0038062, GO:0005524, GO:0005518, GO:0005518, GO:0005518, GO:0005515, GO:0004714, metal ion binding, protein tyrosine kinase collagen receptor activity, protein tyrosine kinase collagen receptor activity, ATP binding, collagen binding, collagen binding, collagen binding, protein binding, transmembrane receptor protein tyrosine kinase activity, GO:1990138, GO:0061564, GO:0061302, GO:0060749, GO:0060444, GO:0046777, GO:0044319, GO:0043583, GO:0038083, GO:0038063, GO:0038063, GO:0033674, GO:0030198, GO:0014909, GO:0010715, GO:0008285, GO:0007595, GO:0007566, GO:0007275, GO:0007169, GO:0007155, GO:0001952, GO:0001558, neuron projection extension, axon development, smooth muscle cell-matrix adhesion, mammary gland alveolus development, branching involved in mammary gland duct morphogenesis, protein autophosphorylation, wound healing, spreading of cells, ear development, peptidyl-tyrosine autophosphorylation, collagen-activated tyrosine kinase receptor signaling pathway, collagen-activated tyrosine kinase receptor signaling pathway, positive regulation of kinase activity, extracellular matrix organization, smooth muscle cell migration, regulation of extracellular matrix disassembly, negative regulation of cell population proliferation, lactation, embryo implantation, multicellular organism development, transmembrane receptor protein tyrosine kinase signaling pathway, cell adhesion, regulation of cell-matrix adhesion, regulation of cell growth, 0 0 0 0 0 0 0 0 0 ENSG00000204581 chr2 111098345 111115588 - ACOXL-AS1 antisense 400997 2 3 2 0 0 0 0 1 0 ENSG00000204583 chr12 132603150 132610543 - LRCOL1 protein_coding 100507055 GO:0005576, extracellular region, GO:0008047, enzyme activator activity, GO:0043085, GO:0032094, GO:0016042, GO:0007586, positive regulation of catalytic activity, response to food, lipid catabolic process, digestion, 0 0 0 0 0 0 0 0 0 ENSG00000204584 chr17 49845910 49848837 + FLJ45513 antisense 20 47 18 36 73 76 51 48 60 ENSG00000204588 chr2 109987063 109996140 + LINC01123 lincRNA 440894 0 0 0 0 0 0 0 0 0 ENSG00000204590 chr6 30541377 30557174 - GNL1 protein_coding The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]. 2794 GO:0005634, GO:0005615, nucleus, extracellular space, GO:0005525, GO:0005198, GO:0003924, GTP binding, structural molecule activity, GTPase activity, GO:0007165, GO:0006974, GO:0002456, signal transduction, cellular response to DNA damage stimulus, T cell mediated immunity, 0 0 0 0 0 0 0 0 0 ENSG00000204592 chr6 30489467 30494205 + HLA-E protein_coding HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008]. 3133 GO:0071556, GO:0070062, GO:0055038, GO:0042612, GO:0032398, GO:0031901, GO:0030670, GO:0012507, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005615, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, recycling endosome membrane, MHC class I protein complex, MHC class Ib protein complex, early endosome membrane, phagocytic vesicle membrane, ER to Golgi transport vesicle membrane, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, extracellular space, Golgi membrane, GO:0046703, GO:0042608, GO:0042605, GO:0042605, GO:0042605, GO:0042288, GO:0030881, GO:0030881, GO:0005515, GO:0005102, GO:0005102, natural killer cell lectin-like receptor binding, T cell receptor binding, peptide antigen binding, peptide antigen binding, peptide antigen binding, MHC class I protein binding, beta-2-microglobulin binding, beta-2-microglobulin binding, protein binding, signaling receptor binding, signaling receptor binding, GO:2001187, GO:2000566, GO:0060337, GO:0060333, GO:0050830, GO:0050776, GO:0045954, GO:0045953, GO:0045087, GO:0042270, GO:0036037, GO:0032819, GO:0032760, GO:0032759, GO:0032753, GO:0032736, GO:0019731, GO:0016032, GO:0006955, GO:0002729, GO:0002717, GO:0002715, GO:0002639, GO:0002519, GO:0002486, GO:0002480, GO:0002479, GO:0002477, GO:0002476, GO:0002476, GO:0002474, GO:0002250, GO:0001916, GO:0001916, GO:0001815, positive regulation of CD8-positive, alpha-beta T cell activation, positive regulation of CD8-positive, alpha-beta T cell proliferation, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to Gram-positive bacterium, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, negative regulation of natural killer cell mediated cytotoxicity, innate immune response, protection from natural killer cell mediated cytotoxicity, CD8-positive, alpha-beta T cell activation, positive regulation of natural killer cell proliferation, positive regulation of tumor necrosis factor production, positive regulation of TRAIL production, positive regulation of interleukin-4 production, positive regulation of interleukin-13 production, antibacterial humoral response, viral process, immune response, positive regulation of natural killer cell cytokine production, positive regulation of natural killer cell mediated immunity, regulation of natural killer cell mediated immunity, positive regulation of immunoglobulin production, natural killer cell tolerance induction, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of exogenous peptide antigen via MHC class Ib, antigen processing and presentation of endogenous peptide antigen via MHC class Ib, antigen processing and presentation of endogenous peptide antigen via MHC class Ib, antigen processing and presentation of peptide antigen via MHC class I, adaptive immune response, positive regulation of T cell mediated cytotoxicity, positive regulation of T cell mediated cytotoxicity, positive regulation of antibody-dependent cellular cytotoxicity, 111 255 125 109 276 111 102 156 72 ENSG00000204595 chr19 53632056 53637009 + DPRX protein_coding Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]. 503834 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204599 chr6 30326479 30343729 + TRIM39 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 56658 GO:0005829, GO:0005739, GO:0005737, GO:0005634, cytosol, mitochondrion, cytoplasm, nucleus, GO:0061630, GO:0042802, GO:0008270, GO:0005515, ubiquitin protein ligase activity, identical protein binding, zinc ion binding, protein binding, GO:2001235, GO:2001235, GO:2000059, GO:1902806, GO:0050821, GO:0050821, GO:0045087, GO:0043124, GO:0032435, GO:0032435, GO:0016567, GO:0016567, GO:0010468, GO:0007095, GO:0006915, positive regulation of apoptotic signaling pathway, positive regulation of apoptotic signaling pathway, negative regulation of ubiquitin-dependent protein catabolic process, regulation of cell cycle G1/S phase transition, protein stabilization, protein stabilization, innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, protein ubiquitination, protein ubiquitination, regulation of gene expression, mitotic G2 DNA damage checkpoint, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000204603 chr12 131165011 131212931 + LINC01257 lincRNA 116437 0 0 0 0 0 0 0 0 0 ENSG00000204604 chr19 52838008 52890375 - ZNF468 protein_coding 90333 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 95 67 97 100 75 68 76 70 60 ENSG00000204610 chr6 30163206 30172696 + TRIM15 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 89870 GO:0005737, cytoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:1902187, GO:1902187, GO:1901253, GO:1900246, GO:0051092, GO:0051092, GO:0051091, GO:0045087, GO:0045087, GO:0032481, GO:0016567, GO:0010468, GO:0007500, negative regulation of viral release from host cell, negative regulation of viral release from host cell, negative regulation of intracellular transport of viral material, positive regulation of RIG-I signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, innate immune response, innate immune response, positive regulation of type I interferon production, protein ubiquitination, regulation of gene expression, mesodermal cell fate determination, 0 0 0 0 0 0 0 0 0 ENSG00000204611 chr19 52113091 52139922 - ZNF616 protein_coding 90317 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 29 36 33 40 43 37 50 48 34 ENSG00000204612 chr9 77019655 77020953 + FOXB2 protein_coding 442425 GO:0000785, GO:0000785, chromatin, chromatin, GO:0043565, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204613 chr6 30151945 30160934 - TRIM10 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 10107 GO:0005737, GO:0005737, cytoplasm, cytoplasm, GO:0061630, GO:0008270, GO:0005515, GO:0003674, ubiquitin protein ligase activity, zinc ion binding, protein binding, molecular_function, GO:0046597, GO:0045087, GO:0030218, GO:0016567, GO:0010468, GO:0008150, negative regulation of viral entry into host cell, innate immune response, erythrocyte differentiation, protein ubiquitination, regulation of gene expression, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000204614 chr6 30136108 30148735 + TRIM40 protein_coding This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]. 135644 GO:0008385, GO:0005737, IkappaB kinase complex, cytoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:1901223, GO:1900181, GO:0045116, GO:0045087, GO:0042177, GO:0032088, GO:0032088, GO:0030308, GO:0016567, GO:0010468, negative regulation of NIK/NF-kappaB signaling, negative regulation of protein localization to nucleus, protein neddylation, innate immune response, negative regulation of protein catabolic process, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, negative regulation of cell growth, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000204616 chr6 30102897 30113106 - TRIM31 protein_coding This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 11074 GO:0005829, GO:0005739, GO:0005737, cytosol, mitochondrion, cytoplasm, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:1902186, GO:0060333, GO:0051091, GO:0051091, GO:0046597, GO:0045087, GO:0045087, GO:0032897, GO:0016567, GO:0016567, GO:0010468, regulation of viral release from host cell, interferon-gamma-mediated signaling pathway, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, negative regulation of viral entry into host cell, innate immune response, innate immune response, negative regulation of viral transcription, protein ubiquitination, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000204618 chr6 30070266 30075887 - RNF39 protein_coding This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 80352 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0045087, GO:0016567, GO:0010468, GO:0008150, innate immune response, protein ubiquitination, regulation of gene expression, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000204619 chr6 30066709 30070333 + PPP1R11 protein_coding This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]. 6992 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0061630, GO:0008157, GO:0005515, GO:0004865, ubiquitin protein ligase activity, protein phosphatase 1 binding, protein binding, protein serine/threonine phosphatase inhibitor activity, GO:0050830, GO:0032515, GO:0016567, GO:0006511, GO:0001818, defense response to Gram-positive bacterium, negative regulation of phosphoprotein phosphatase activity, protein ubiquitination, ubiquitin-dependent protein catabolic process, negative regulation of cytokine production, 3 8 14 13 9 14 12 9 10 ENSG00000204620 chrX 48568014 48574860 - AC115618.1 antisense 94 120 130 103 80 177 103 95 102 ENSG00000204622 chr6 30005971 30009956 + HLA-J transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204623 chr6 30001011 30061640 - ZNRD1ASP transcribed_unitary_pseudogene 80862 0 0 0 0 0 0 0 0 0 ENSG00000204624 chr1 11479166 11537584 + DISP3 protein_coding 57540 GO:0031965, GO:0030659, GO:0016021, GO:0005789, GO:0005783, GO:0005737, nuclear membrane, cytoplasmic vesicle membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, cytoplasm, GO:0003674, molecular_function, GO:2000179, GO:0045834, GO:0045665, GO:0042632, GO:0032368, GO:0008203, GO:0007224, positive regulation of neural precursor cell proliferation, positive regulation of lipid metabolic process, negative regulation of neuron differentiation, cholesterol homeostasis, regulation of lipid transport, cholesterol metabolic process, smoothened signaling pathway, 0 0 1 0 4 0 0 0 6 ENSG00000204625 chr6 29975112 29978410 + HCG9 lincRNA This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009]. 10255 0 0 0 0 0 0 0 0 0 ENSG00000204628 chr5 181236909 181248096 - RACK1 protein_coding 10399 GO:1990630, GO:0070062, GO:0048471, GO:0043231, GO:0043204, GO:0043025, GO:0030496, GO:0030425, GO:0022627, GO:0015935, GO:0005829, GO:0005829, GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0001891, IRE1-RACK1-PP2A complex, extracellular exosome, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, perikaryon, neuronal cell body, midbody, dendrite, cytosolic small ribosomal subunit, small ribosomal subunit, cytosol, cytosol, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, phagocytic cup, GO:0060090, GO:0051434, GO:0045296, GO:0043022, GO:0043022, GO:0042803, GO:0042169, GO:0035591, GO:0030971, GO:0030332, GO:0030292, GO:0019903, GO:0019899, GO:0008656, GO:0008200, GO:0005515, GO:0005102, GO:0005080, GO:0005080, GO:0003723, molecular adaptor activity, BH3 domain binding, cadherin binding, ribosome binding, ribosome binding, protein homodimerization activity, SH2 domain binding, signaling adaptor activity, receptor tyrosine kinase binding, cyclin binding, protein tyrosine kinase inhibitor activity, protein phosphatase binding, enzyme binding, cysteine-type endopeptidase activator activity involved in apoptotic process, ion channel inhibitor activity, protein binding, signaling receptor binding, protein kinase C binding, protein kinase C binding, RNA binding, GO:2001244, GO:2000543, GO:2000304, GO:2000114, GO:1903208, GO:1900102, GO:0072344, GO:0072344, GO:0071363, GO:0071333, GO:0061099, GO:0051901, GO:0051898, GO:0051726, GO:0051343, GO:0051302, GO:0050765, GO:0048511, GO:0045879, GO:0043547, GO:0043473, GO:0043065, GO:0043065, GO:0042998, GO:0033137, GO:0032880, GO:0032436, GO:0032091, GO:0031334, GO:0030335, GO:0030308, GO:0030178, GO:0017148, GO:0016567, GO:0016032, GO:0010803, GO:0010629, GO:0007369, GO:0007049, GO:0006919, GO:0006915, GO:0001934, GO:0001934, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of gastrulation, positive regulation of ceramide biosynthetic process, regulation of establishment of cell polarity, negative regulation of hydrogen peroxide-induced neuron death, negative regulation of endoplasmic reticulum unfolded protein response, rescue of stalled ribosome, rescue of stalled ribosome, cellular response to growth factor stimulus, cellular response to glucose stimulus, negative regulation of protein tyrosine kinase activity, positive regulation of mitochondrial depolarization, negative regulation of protein kinase B signaling, regulation of cell cycle, positive regulation of cyclic-nucleotide phosphodiesterase activity, regulation of cell division, negative regulation of phagocytosis, rhythmic process, negative regulation of smoothened signaling pathway, positive regulation of GTPase activity, pigmentation, positive regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of Golgi to plasma membrane protein transport, negative regulation of peptidyl-serine phosphorylation, regulation of protein localization, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein binding, positive regulation of protein-containing complex assembly, positive regulation of cell migration, negative regulation of cell growth, negative regulation of Wnt signaling pathway, negative regulation of translation, protein ubiquitination, viral process, regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of gene expression, gastrulation, cell cycle, activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, 795 596 1087 2110 1172 2267 1674 881 1508 ENSG00000204632 chr6 29826967 29831125 + HLA-G protein_coding HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]. 3135 GO:0071556, GO:0055038, GO:0042612, GO:0033106, GO:0031901, GO:0031527, GO:0030670, GO:0016020, GO:0012507, GO:0009897, GO:0005886, GO:0005886, GO:0005769, GO:0005615, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, recycling endosome membrane, MHC class I protein complex, cis-Golgi network membrane, early endosome membrane, filopodium membrane, phagocytic vesicle membrane, membrane, ER to Golgi transport vesicle membrane, external side of plasma membrane, plasma membrane, plasma membrane, early endosome, extracellular space, Golgi membrane, GO:0042803, GO:0042802, GO:0042610, GO:0042605, GO:0042605, GO:0005515, GO:0005102, GO:0005102, protein homodimerization activity, identical protein binding, CD8 receptor binding, peptide antigen binding, peptide antigen binding, protein binding, signaling receptor binding, signaling receptor binding, GO:2001199, GO:2000774, GO:2000353, GO:0070317, GO:0070207, GO:0060907, GO:0060337, GO:0060333, GO:0051898, GO:0050777, GO:0050776, GO:0045953, GO:0045953, GO:0045591, GO:0042270, GO:0042130, GO:0032735, GO:0016525, GO:0006968, GO:0006955, GO:0002767, GO:0002729, GO:0002666, GO:0002645, GO:0002486, GO:0002480, GO:0002479, GO:0002476, GO:0002476, GO:0002474, GO:0002451, GO:0001916, GO:0001915, negative regulation of dendritic cell differentiation, positive regulation of cellular senescence, positive regulation of endothelial cell apoptotic process, negative regulation of G0 to G1 transition, protein homotrimerization, positive regulation of macrophage cytokine production, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, negative regulation of protein kinase B signaling, negative regulation of immune response, regulation of immune response, negative regulation of natural killer cell mediated cytotoxicity, negative regulation of natural killer cell mediated cytotoxicity, positive regulation of regulatory T cell differentiation, protection from natural killer cell mediated cytotoxicity, negative regulation of T cell proliferation, positive regulation of interleukin-12 production, negative regulation of angiogenesis, cellular defense response, immune response, immune response-inhibiting cell surface receptor signaling pathway, positive regulation of natural killer cell cytokine production, positive regulation of T cell tolerance induction, positive regulation of tolerance induction, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of endogenous peptide antigen via MHC class Ib, antigen processing and presentation of endogenous peptide antigen via MHC class Ib, antigen processing and presentation of peptide antigen via MHC class I, peripheral B cell tolerance induction, positive regulation of T cell mediated cytotoxicity, negative regulation of T cell mediated cytotoxicity, 0 0 0 0 0 0 0 0 0 ENSG00000204634 chr2 101007617 101252866 - TBC1D8 protein_coding 11138 GO:0016020, membrane, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0008284, GO:0008015, GO:0006886, regulation of cilium assembly, activation of GTPase activity, positive regulation of cell population proliferation, blood circulation, intracellular protein transport, 62 62 66 91 82 74 68 82 81 ENSG00000204637 chr2 100509277 100509612 + AC068538.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204640 chr2 100470482 100483280 + NMS protein_coding This gene encodes a member of the neuromedin family of neuropeptides. The encoded preproprotein is proteolytically processed to generate a biologically active neuropeptide that plays a role in the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. [provided by RefSeq, May 2016]. 129521 GO:0005576, extracellular region, GO:0001664, G protein-coupled receptor binding, GO:0045475, GO:0007218, GO:0007186, locomotor rhythm, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204642 chr6 29722775 29738528 + HLA-F protein_coding This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008]. 3134 GO:0071556, GO:0055038, GO:0042612, GO:0032398, GO:0031901, GO:0031901, GO:0030670, GO:0016020, GO:0012507, GO:0009986, GO:0009897, GO:0005886, GO:0005886, GO:0005783, GO:0005765, GO:0005615, GO:0000139, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, recycling endosome membrane, MHC class I protein complex, MHC class Ib protein complex, early endosome membrane, early endosome membrane, phagocytic vesicle membrane, membrane, ER to Golgi transport vesicle membrane, cell surface, external side of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum, lysosomal membrane, extracellular space, Golgi membrane, Golgi membrane, GO:0071889, GO:0046979, GO:0046978, GO:0042605, GO:0042605, GO:0030881, GO:0005515, GO:0005102, 14-3-3 protein binding, TAP2 binding, TAP1 binding, peptide antigen binding, peptide antigen binding, beta-2-microglobulin binding, protein binding, signaling receptor binding, GO:1901215, GO:0060337, GO:0060333, GO:0050776, GO:0045953, GO:0043323, GO:0043322, GO:0006955, GO:0002729, GO:0002728, GO:0002725, GO:0002486, GO:0002480, GO:0002479, GO:0002477, GO:0002476, GO:0002476, GO:0002474, GO:0001916, GO:0001916, negative regulation of neuron death, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, regulation of immune response, negative regulation of natural killer cell mediated cytotoxicity, positive regulation of natural killer cell degranulation, negative regulation of natural killer cell degranulation, immune response, positive regulation of natural killer cell cytokine production, negative regulation of natural killer cell cytokine production, negative regulation of T cell cytokine production, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of exogenous peptide antigen via MHC class Ib, antigen processing and presentation of endogenous peptide antigen via MHC class Ib, antigen processing and presentation of endogenous peptide antigen via MHC class Ib, antigen processing and presentation of peptide antigen via MHC class I, positive regulation of T cell mediated cytotoxicity, positive regulation of T cell mediated cytotoxicity, 14 46 70 28 42 68 51 86 59 ENSG00000204644 chr6 29672392 29681110 - ZFP57 protein_coding The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]. 346171 GO:0000785, chromatin, GO:0046872, GO:0003682, GO:0001227, GO:0000981, GO:0000977, metal ion binding, chromatin binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0043045, GO:0006357, GO:0006349, GO:0000122, DNA methylation involved in embryo development, regulation of transcription by RNA polymerase II, regulation of gene expression by genetic imprinting, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204648 chrX 48296816 48306179 - SSX9P transcribed_unprocessed_pseudogene The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq, Jul 2008]. 280660 GO:0005634, nucleus, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000204650 chr17 45620328 45655156 + LINC02210 transcribed_unitary_pseudogene 147081 0 1 1 0 0 0 0 0 0 ENSG00000204652 chr17 45608571 45608918 + RPS26P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204653 chr19 50511600 50514690 - ASPDH protein_coding 554235 GO:0050661, GO:0033735, NADP binding, aspartate dehydrogenase activity, GO:0055114, GO:0009435, oxidation-reduction process, NAD biosynthetic process, 3 1 2 12 7 6 5 5 7 ENSG00000204655 chr6 29656981 29672372 + MOG protein_coding The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 4340 GO:0016021, GO:0009897, GO:0005886, integral component of membrane, external side of plasma membrane, plasma membrane, GO:0005102, GO:0001618, signaling receptor binding, virus receptor activity, GO:0050852, GO:0046718, GO:0007417, GO:0007155, GO:0001817, T cell receptor signaling pathway, viral entry into host cell, central nervous system development, cell adhesion, regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000204657 chr6 29585121 29590500 + OR2H2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 7932 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007618, GO:0007186, GO:0006952, detection of chemical stimulus involved in sensory perception of smell, mating, G protein-coupled receptor signaling pathway, defense response, 0 0 0 0 0 0 0 0 0 ENSG00000204658 chr20 23583645 23586510 + CST9LP2 unprocessed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000204659 chr5 179678583 179680974 - CBY3 protein_coding 646019 0 0 4 0 0 0 0 0 0 ENSG00000204661 chr5 179641544 179645046 - C5orf60 protein_coding 285679 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000204662 chr20 23547764 23550652 - CST9LP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204663 chr20 23519146 23542018 + CST13P transcribed_unprocessed_pseudogene 164380 0 0 0 0 0 0 0 0 0 ENSG00000204666 chr19 50050589 50066793 + AC010624.1 sense_overlapping 400710 1 1 0 2 1 0 4 0 4 ENSG00000204669 chr9 72051376 72072721 - C9orf57 protein_coding 138240 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000204670 chr2 97060128 97060415 + IGKV1OR2-3 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204671 chr12 122172030 122174199 - IL31 protein_coding IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM, Mar 2008]. 386653 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0005515, GO:0005126, GO:0005125, protein binding, cytokine receptor binding, cytokine activity, GO:0019221, GO:0002376, cytokine-mediated signaling pathway, immune system process, 0 0 0 0 0 0 0 0 0 ENSG00000204673 chr19 49869033 49878459 - AKT1S1 protein_coding AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]. 84335 GO:0031931, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, TORC1 complex, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0005515, protein binding, GO:1900034, GO:0048011, GO:0045792, GO:0043523, GO:0042981, GO:0032007, GO:0032007, GO:0006469, GO:0006469, regulation of cellular response to heat, neurotrophin TRK receptor signaling pathway, negative regulation of cell size, regulation of neuron apoptotic process, regulation of apoptotic process, negative regulation of TOR signaling, negative regulation of TOR signaling, negative regulation of protein kinase activity, negative regulation of protein kinase activity, 143 215 142 252 560 385 215 329 247 ENSG00000204677 chr5 178006405 178055559 + FAM153C protein_coding 653316 1 1 3 7 2 14 21 0 0 ENSG00000204681 chr6 29555629 29633976 - GABBR1 protein_coding This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]. 2550 GO:0098982, GO:0098685, GO:0045211, GO:0042734, GO:0038039, GO:0038039, GO:0030425, GO:0005887, GO:0005886, GO:0005737, GO:0005576, GABA-ergic synapse, Schaffer collateral - CA1 synapse, postsynaptic membrane, presynaptic membrane, G protein-coupled receptor heterodimeric complex, G protein-coupled receptor heterodimeric complex, dendrite, integral component of plasma membrane, plasma membrane, cytoplasm, extracellular region, GO:0099579, GO:0005515, GO:0004965, GO:0004965, GO:0004965, GO:0004888, G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential, protein binding, G protein-coupled GABA receptor activity, G protein-coupled GABA receptor activity, G protein-coupled GABA receptor activity, transmembrane signaling receptor activity, GO:0150099, GO:0060078, GO:0007214, GO:0007214, GO:0007193, GO:0007186, neuron-glial cell signaling, regulation of postsynaptic membrane potential, gamma-aminobutyric acid signaling pathway, gamma-aminobutyric acid signaling pathway, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204682 chr10 21492658 21497262 - CASC10 protein_coding 399726 0 0 0 0 0 0 0 0 0 ENSG00000204683 chr10 21125763 21146559 - C10orf113 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000204684 chr20 22371216 22471557 - AL133464.1 lincRNA 284788 0 0 0 0 0 0 0 0 0 ENSG00000204685 chr2 96208416 96242621 + STARD7-AS1 processed_transcript 156 170 107 171 282 212 179 204 192 ENSG00000204687 chr6 29486697 29487956 - MAS1L protein_coding 116511 GO:0016021, GO:0005886, GO:0005829, GO:0005654, integral component of membrane, plasma membrane, cytosol, nucleoplasm, GO:0004930, GO:0004930, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0007186, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204688 chr6 29457181 29464328 + OR2H1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26716 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204694 chr6 29425504 29457071 - OR11A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26531 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204695 chr6 29301701 29313017 + OR14J1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 442191 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204697 chr6 29262703 29264079 - OR2U1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204699 chr2 95625213 95626236 + UBTFL3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204700 chr6 29170907 29175811 + OR2J2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26707 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204701 chr6 29108059 29114770 + OR2J3 protein_coding This gene encodes a G-protein-coupled receptor (GPCR) that functions as an olfactory receptor. Olfactory receptors interact with odorant molecules in the nose to initiate a neuronal response that triggers the perception of a smell. The protein encoded by this gene responds to cis-3-hexen-1-ol, which is released by wounded plants, including cut grass. This gene is situated in a cluster of similar olfactory-receptor coding genes on chromosome 6. [provided by RefSeq, May 2013]. 442186 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204702 chr6 29099657 29102701 + OR2J1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 442185 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204703 chr6 29086208 29087313 - OR2B3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 442184 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204704 chr6 29044213 29045240 - OR2W1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26692 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204705 chr2 95450310 95451500 - UBTFL5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204706 chr9 70033921 70175888 - MAMDC2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000204709 chr6 28943877 28944537 + LINC01556 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000204710 chr11 65170154 65173244 + SPDYC protein_coding 387778 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0019901, GO:0019901, GO:0005515, protein kinase binding, protein kinase binding, protein binding, GO:0007049, cell cycle, 0 3 0 0 0 0 0 0 0 ENSG00000204711 chr9 69820793 69906232 + C9orf135 protein_coding 138255 GO:0016021, GO:0005886, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, plasma membrane, cytoplasm, 0 0 0 2 0 0 0 0 0 ENSG00000204713 chr6 28903002 28923989 - TRIM27 protein_coding This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008]. 5987 GO:0031965, GO:0030904, GO:0016605, GO:0005829, GO:0005829, GO:0005769, GO:0005768, GO:0005737, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005654, GO:0005634, GO:0001650, nuclear membrane, retromer complex, PML body, cytosol, cytosol, early endosome, endosome, cytoplasm, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, fibrillar center, GO:0061630, GO:0061630, GO:0046872, GO:0042803, GO:0042802, GO:0019901, GO:0008270, GO:0005515, GO:0004842, GO:0004842, GO:0003677, GO:0003676, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein homodimerization activity, identical protein binding, protein kinase binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, DNA binding, nucleic acid binding, GO:1902187, GO:0090281, GO:0070534, GO:0070534, GO:0051127, GO:0051092, GO:0051091, GO:0046596, GO:0045814, GO:0045087, GO:0045087, GO:0043123, GO:0042147, GO:0034314, GO:0032897, GO:0032897, GO:0032880, GO:0032720, GO:0032703, GO:0032609, GO:0016567, GO:0010508, GO:0010468, GO:0007283, GO:0006469, GO:0002820, GO:0000209, GO:0000122, GO:0000122, negative regulation of viral release from host cell, negative regulation of calcium ion import, protein K63-linked ubiquitination, protein K63-linked ubiquitination, positive regulation of actin nucleation, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, regulation of viral entry into host cell, negative regulation of gene expression, epigenetic, innate immune response, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, retrograde transport, endosome to Golgi, Arp2/3 complex-mediated actin nucleation, negative regulation of viral transcription, negative regulation of viral transcription, regulation of protein localization, negative regulation of tumor necrosis factor production, negative regulation of interleukin-2 production, interferon-gamma production, protein ubiquitination, positive regulation of autophagy, regulation of gene expression, spermatogenesis, negative regulation of protein kinase activity, negative regulation of adaptive immune response, protein polyubiquitination, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204718 chr13 18726706 18727414 + CNN2P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204740 chr10 19048771 19790401 + MALRD1 protein_coding This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017]. 340895 GO:0030659, GO:0016021, GO:0005794, cytoplasmic vesicle membrane, integral component of membrane, Golgi apparatus, GO:0070858, GO:0042632, negative regulation of bile acid biosynthetic process, cholesterol homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000204745 chr2 87125198 87196629 + AC083899.1 unprocessed_pseudogene 20 13 53 22 25 51 35 27 50 ENSG00000204754 chr5 174919082 174995513 - LINC01951 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000204758 chr5 172954786 172959392 - AC008429.1 antisense 100268168 20 24 24 22 59 13 39 32 12 ENSG00000204764 chr5 170861870 171300015 + RANBP17 protein_coding The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]. 64901 GO:0005737, GO:0005643, GO:0005643, cytoplasm, nuclear pore, nuclear pore, GO:0031267, GO:0005525, GO:0005049, small GTPase binding, GTP binding, nuclear export signal receptor activity, GO:0051028, GO:0006611, GO:0006606, mRNA transport, protein export from nucleus, protein import into nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000204767 chr5 169864264 169980740 - INSYN2B protein_coding 100131897 19 34 20 11 24 41 32 18 32 ENSG00000204776 chr9 65770955 65771434 + IGKV1OR-3 IG_V_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000204778 chr9 65287914 65323015 - CBWD4P unprocessed_pseudogene 25 48 46 38 56 63 20 17 29 ENSG00000204779 chr9 65282101 65285209 - FOXD4L5 protein_coding 653427 GO:0000785, GO:0000785, chromatin, chromatin, GO:0043565, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000204780 chr9 65250543 65250826 - IGKV1OR9-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204787 chr2 79135503 79138427 - REG1CP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204789 chr6 27357825 27360221 - ZNF204P processed_pseudogene 6 0 4 17 3 23 19 12 11 ENSG00000204790 chr9 63974762 64004155 - AL163540.1 unprocessed_pseudogene 1 1 7 0 6 3 4 0 8 ENSG00000204791 chr8 144049079 144051522 + SMPD5 transcribed_unitary_pseudogene 6 4 7 8 14 14 6 8 9 ENSG00000204792 chr2 74918148 74938418 + LINC01291 lincRNA 10 9 0 7 5 0 9 6 0 ENSG00000204801 chr9 62474948 62476333 - FGF7P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204802 chr9 62374128 62376836 - AL590399.1 lincRNA 0 0 0 0 0 1 1 0 0 ENSG00000204805 chr9 61861995 61862336 + AL391987.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204814 chr9 61659733 61662690 + AL935212.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000204815 chr17 41930635 41965651 + TTC25 protein_coding This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]. 83538 GO:0120228, GO:0097729, GO:0005930, GO:0005737, GO:0005737, GO:0005576, outer dynein arm docking complex, 9+2 motile cilium, axoneme, cytoplasm, cytoplasm, extracellular region, GO:0005515, protein binding, GO:0120229, GO:0120197, GO:0090660, GO:0060287, GO:0036158, GO:0030324, GO:0007507, GO:0007420, GO:0003341, protein localization to motile cilium, mucociliary clearance, cerebrospinal fluid circulation, epithelial cilium movement involved in determination of left/right asymmetry, outer dynein arm assembly, lung development, heart development, brain development, cilium movement, 1 2 1 2 10 11 0 3 0 ENSG00000204816 chr9 42625436 42626813 + FGF7P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204818 chr9 42795392 42800672 + ADGRF5P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204822 chr2 74471958 74473322 - MRPL53 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008]. 116540 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 5 8 0 9 5 13 6 8 9 ENSG00000204832 chr10 17386936 17413503 + ST8SIA6-AS1 antisense 100128098 0 0 0 0 0 0 0 1 0 ENSG00000204837 chr9 39816542 40106661 - FGF7P3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204839 chr8 143566187 143572971 - MROH6 protein_coding 642475 13 23 15 5 7 9 6 9 7 ENSG00000204842 chr12 111443485 111599676 - ATXN2 protein_coding This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 6311 GO:1990904, GO:0048471, GO:0016020, GO:0010494, GO:0010494, GO:0005844, GO:0005829, GO:0005802, GO:0005794, GO:0005737, ribonucleoprotein complex, perinuclear region of cytoplasm, membrane, cytoplasmic stress granule, cytoplasmic stress granule, polysome, cytosol, trans-Golgi network, Golgi apparatus, cytoplasm, GO:0008022, GO:0005515, GO:0005154, GO:0003723, GO:0003723, GO:0003723, protein C-terminus binding, protein binding, epidermal growth factor receptor binding, RNA binding, RNA binding, RNA binding, GO:0050658, GO:0034063, GO:0034063, GO:0033962, GO:0016070, GO:0010603, GO:0006417, GO:0002091, RNA transport, stress granule assembly, stress granule assembly, P-body assembly, RNA metabolic process, regulation of cytoplasmic mRNA processing body assembly, regulation of translation, negative regulation of receptor internalization, 393 352 505 374 484 464 422 394 383 ENSG00000204843 chr2 74361154 74392087 - DCTN1 protein_coding This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]. 1639 GO:0120103, GO:0099738, GO:0072686, GO:0045171, GO:0043025, GO:0043005, GO:0036064, GO:0035371, GO:0035371, GO:0031252, GO:0030904, GO:0030424, GO:0030286, GO:0016020, GO:0015630, GO:0005938, GO:0005938, GO:0005875, GO:0005875, GO:0005874, GO:0005829, GO:0005819, GO:0005814, GO:0005813, GO:0005737, GO:0005737, GO:0005635, GO:0005634, GO:0000922, GO:0000922, GO:0000776, GO:0000776, centriolar subdistal appendage, cell cortex region, mitotic spindle, intercellular bridge, neuronal cell body, neuron projection, ciliary basal body, microtubule plus-end, microtubule plus-end, cell leading edge, retromer complex, axon, dynein complex, membrane, microtubule cytoskeleton, cell cortex, cell cortex, microtubule associated complex, microtubule associated complex, microtubule, cytosol, spindle, centriole, centrosome, cytoplasm, cytoplasm, nuclear envelope, nucleus, spindle pole, spindle pole, kinetochore, kinetochore, GO:0051010, GO:0048156, GO:0019901, GO:0015631, GO:0008017, GO:0008017, GO:0005515, GO:0003774, microtubule plus-end binding, tau protein binding, protein kinase binding, tubulin binding, microtubule binding, microtubule binding, protein binding, motor activity, GO:1990535, GO:1905515, GO:1904398, GO:0099558, GO:0098930, GO:0097711, GO:0090063, GO:0070050, GO:0061744, GO:0060236, GO:0051301, GO:0051081, GO:0050905, GO:0042147, GO:0036498, GO:0034454, GO:0032402, GO:0031122, GO:0031116, GO:0031116, GO:0021517, GO:0019886, GO:0010457, GO:0010389, GO:0007528, GO:0007399, GO:0007097, GO:0006888, GO:0000278, GO:0000132, GO:0000132, GO:0000086, neuron projection maintenance, non-motile cilium assembly, positive regulation of neuromuscular junction development, maintenance of synapse structure, axonal transport, ciliary basal body-plasma membrane docking, positive regulation of microtubule nucleation, neuron cellular homeostasis, motor behavior, regulation of mitotic spindle organization, cell division, nuclear envelope disassembly, neuromuscular process, retrograde transport, endosome to Golgi, IRE1-mediated unfolded protein response, microtubule anchoring at centrosome, melanosome transport, cytoplasmic microtubule organization, positive regulation of microtubule polymerization, positive regulation of microtubule polymerization, ventral spinal cord development, antigen processing and presentation of exogenous peptide antigen via MHC class II, centriole-centriole cohesion, regulation of G2/M transition of mitotic cell cycle, neuromuscular junction development, nervous system development, nuclear migration, endoplasmic reticulum to Golgi vesicle-mediated transport, mitotic cell cycle, establishment of mitotic spindle orientation, establishment of mitotic spindle orientation, G2/M transition of mitotic cell cycle, 698 682 722 415 458 339 397 423 425 ENSG00000204849 chr9 39355669 39361959 + SPATA31A1 protein_coding 647060 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 2 0 1 0 0 0 ENSG00000204850 chr19 46494508 46496502 + AC011484.1 antisense 0 0 0 0 0 1 0 0 2 ENSG00000204851 chr19 46486906 46496498 - PNMA8B protein_coding 57469 1 0 0 0 0 1 0 3 2 ENSG00000204852 chr12 110614027 110649430 + TCTN1 protein_coding This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 79600 GO:0036038, GO:0036038, GO:0016020, GO:0005856, GO:0005829, GO:0005615, MKS complex, MKS complex, membrane, cytoskeleton, cytosol, extracellular space, GO:1904491, GO:0097711, GO:0060271, GO:0060271, GO:0021956, GO:0021904, GO:0021537, GO:0021523, GO:0008589, GO:0001841, GO:0001701, protein localization to ciliary transition zone, ciliary basal body-plasma membrane docking, cilium assembly, cilium assembly, central nervous system interneuron axonogenesis, dorsal/ventral neural tube patterning, telencephalon development, somatic motor neuron differentiation, regulation of smoothened signaling pathway, neural tube formation, in utero embryonic development, 341 371 310 202 512 362 285 357 336 ENSG00000204856 chr12 110468364 110490385 + FAM216A protein_coding 29902 18 27 19 36 20 46 24 23 15 ENSG00000204859 chr1 6580001 6589280 + ZBTB48 protein_coding 3104 GO:0005829, GO:0005654, GO:0000785, GO:0000781, cytosol, nucleoplasm, chromatin, chromosome, telomeric region, GO:0046872, GO:0042802, GO:0005515, GO:0003700, GO:0003691, GO:0000978, GO:0000976, metal ion binding, identical protein binding, protein binding, DNA-binding transcription factor activity, double-stranded telomeric DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0045893, GO:0010833, GO:0006357, positive regulation of transcription, DNA-templated, telomere maintenance via telomere lengthening, regulation of transcription by RNA polymerase II, 474 582 640 428 629 703 484 481 596 ENSG00000204860 chr9 38620474 38624990 + FAM201A antisense 2 6 7 3 8 24 5 3 13 ENSG00000204866 chr19 46143106 46161299 + IGFL2 protein_coding IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]. 147920 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:0005102, GO:0005102, signaling receptor binding, signaling receptor binding, GO:0008150, biological_process, 0 3 0 0 0 0 0 0 0 ENSG00000204869 chr19 46039748 46077118 - IGFL4 protein_coding 444882 GO:0005615, extracellular space, GO:0005102, signaling receptor binding, 2 1 2 0 0 0 0 0 0 ENSG00000204872 chr2 73700576 73701340 - NAT8B polymorphic_pseudogene The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008]. 51471 GO:0033116, GO:0016021, GO:0005793, GO:0005789, GO:0005789, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0008080, GO:0008080, GO:0005515, GO:0004468, N-acetyltransferase activity, N-acetyltransferase activity, protein binding, lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, GO:0050435, GO:0044267, GO:0043066, GO:0018003, GO:0010628, GO:0001702, amyloid-beta metabolic process, cellular protein metabolic process, negative regulation of apoptotic process, peptidyl-lysine N6-acetylation, positive regulation of gene expression, gastrulation with mouth forming second, 0 0 0 0 1 0 1 0 0 ENSG00000204873 chr17 41232463 41233454 + KRTAP9-3 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 83900 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000204876 chr7 155962632 155966343 + AC021218.1 lincRNA 389602 0 0 0 0 0 0 0 0 0 ENSG00000204880 chr17 41096981 41098141 - KRTAP4-8 protein_coding 728224 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042633, GO:0031424, GO:0007568, hair cycle, keratinization, aging, 0 0 0 0 0 0 0 0 0 ENSG00000204882 chr8 141356500 141367267 - GPR20 protein_coding 2843 GO:0043235, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005829, receptor complex, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0004930, GO:0004930, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:0051482, GO:0035025, GO:0007186, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of Rho protein signal transduction, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000204887 chr17 41029697 41030104 - KRTAP1-4 protein_coding The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]. 728255 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000204889 chr17 40977716 40987135 - KRT40 protein_coding This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]. 125115 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0070268, GO:0031424, cornification, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000204894 chr7 152367171 152367260 + AC104692.1 processed_pseudogene 0 0 0 0 0 3 0 1 0 ENSG00000204897 chr17 40748021 40755332 - KRT25 protein_coding This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]. 147183 GO:0070062, GO:0005882, GO:0005829, extracellular exosome, intermediate filament, cytosol, GO:0046982, GO:0046982, GO:0005515, GO:0005198, GO:0003674, protein heterodimerization activity, protein heterodimerization activity, protein binding, structural molecule activity, molecular_function, GO:0070268, GO:0045109, GO:0042633, GO:0031424, GO:0031069, GO:0007568, GO:0007010, cornification, intermediate filament organization, hair cycle, keratinization, hair follicle morphogenesis, aging, cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000204899 chr13 72708357 72727687 - MZT1 protein_coding 440145 GO:0031021, GO:0008274, GO:0008274, GO:0005829, GO:0005819, GO:0005819, GO:0005813, GO:0005813, interphase microtubule organizing center, gamma-tubulin ring complex, gamma-tubulin ring complex, cytosol, spindle, spindle, centrosome, centrosome, GO:0005515, protein binding, GO:0090307, GO:0051415, GO:0033566, mitotic spindle assembly, microtubule nucleation by interphase microtubule organizing center, gamma-tubulin complex localization, 19 19 17 24 24 42 22 21 37 ENSG00000204904 chrX 46887417 46899703 - LINC01545 lincRNA 724087 0 5 3 2 8 3 1 1 0 ENSG00000204909 chr5 148321203 148339849 + SPINK9 protein_coding The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015]. 643394 GO:0005576, extracellular region, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0070268, GO:0010951, cornification, negative regulation of endopeptidase activity, 1 3 2 0 2 0 0 0 2 ENSG00000204913 chr17 39941474 39944747 + LRRC3C protein_coding 100505591 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000204915 chrX 45730752 45731688 + AC234772.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204918 chr13 57147488 57150509 + PRR20B protein_coding 729233 0 0 0 0 0 0 0 0 0 ENSG00000204919 chr13 57140918 57143939 + PRR20A protein_coding 122183 0 0 0 0 0 0 0 0 0 ENSG00000204920 chr19 43967862 43998325 + ZNF155 protein_coding 7711 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 63 75 66 25 54 29 40 34 12 ENSG00000204922 chr11 62670273 62673687 + UQCC3 protein_coding Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]. 790955 GO:0031305, GO:0031305, GO:0005750, GO:0005750, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrial respiratory chain complex III, mitochondrial respiratory chain complex III, GO:1901612, GO:0070300, cardiolipin binding, phosphatidic acid binding, GO:0042407, GO:0034551, GO:0034551, GO:0006754, GO:0006122, GO:0006122, cristae formation, mitochondrial respiratory chain complex III assembly, mitochondrial respiratory chain complex III assembly, ATP biosynthetic process, mitochondrial electron transport, ubiquinol to cytochrome c, mitochondrial electron transport, ubiquinol to cytochrome c, 16 16 14 75 41 38 47 37 34 ENSG00000204923 chr2 68459419 68467258 - FBXO48 protein_coding 554251 GO:0019005, SCF ubiquitin ligase complex, GO:0005515, protein binding, GO:0031146, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, 30 39 70 34 27 97 33 32 57 ENSG00000204928 chr5 145858521 145937126 - GRXCR2 protein_coding This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]. 643226 GO:0120044, GO:0120043, GO:0005902, GO:0005902, stereocilium base, stereocilium shaft, microvillus, microvillus, GO:0060088, GO:0033365, GO:0007605, GO:0007605, auditory receptor cell stereocilium organization, protein localization to organelle, sensory perception of sound, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000204929 chr2 65436711 66084639 + AC007389.1 processed_transcript 101927533 0 0 0 0 0 0 0 0 0 ENSG00000204930 chr9 35816391 35828747 - FAM221B protein_coding 392307 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204933 chr19 43372742 43379123 - CD177P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204934 chr7 149867697 149880610 - ATP6V0E2-AS1 antisense 401431 0 4 5 12 6 21 17 12 14 ENSG00000204936 chr19 43353659 43363172 + CD177 protein_coding This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 2014]. 57126 GO:0070821, GO:0070821, GO:0070062, GO:0046658, GO:0044853, GO:0044853, GO:0035579, GO:0030667, GO:0030027, GO:0005886, GO:0005886, tertiary granule membrane, tertiary granule membrane, extracellular exosome, anchored component of plasma membrane, plasma membrane raft, plasma membrane raft, specific granule membrane, secretory granule membrane, lamellipodium, plasma membrane, plasma membrane, GO:0048306, GO:0005515, GO:0005178, GO:0002020, calcium-dependent protein binding, protein binding, integrin binding, protease binding, GO:2001044, GO:2001044, GO:1990266, GO:1990266, GO:0098742, GO:0098742, GO:0072672, GO:0050900, GO:0045217, GO:0045217, GO:0045087, GO:0043315, GO:0043315, GO:0043312, GO:0034394, GO:0032930, GO:0030100, GO:0007596, GO:0007159, GO:0007159, GO:0007155, regulation of integrin-mediated signaling pathway, regulation of integrin-mediated signaling pathway, neutrophil migration, neutrophil migration, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion via plasma-membrane adhesion molecules, neutrophil extravasation, leukocyte migration, cell-cell junction maintenance, cell-cell junction maintenance, innate immune response, positive regulation of neutrophil degranulation, positive regulation of neutrophil degranulation, neutrophil degranulation, protein localization to cell surface, positive regulation of superoxide anion generation, regulation of endocytosis, blood coagulation, leukocyte cell-cell adhesion, leukocyte cell-cell adhesion, cell adhesion, 7 65 29 10 28 19 8 45 12 ENSG00000204941 chr19 43166256 43186536 - PSG5 protein_coding The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]. 5673 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0007565, female pregnancy, 0 0 0 0 0 0 0 0 0 ENSG00000204946 chr7 149262171 149297302 + ZNF783 protein_coding 100289678 GO:0000785, chromatin, GO:0005515, GO:0003700, GO:0000978, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 12 14 48 54 12 75 53 17 25 ENSG00000204947 chr7 149102784 149126346 - ZNF425 protein_coding 155054 GO:0005737, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 9 2 1 7 10 10 3 2 ENSG00000204949 chr8 123201172 123202743 - FAM83A-AS1 antisense 100131726 0 0 0 4 0 0 0 1 0 ENSG00000204950 chr11 61508800 61511018 + LRRC10B protein_coding 390205 0 0 0 0 0 0 0 0 0 ENSG00000204952 chr17 38936432 38967402 - FBXO47 protein_coding 494188 0 0 0 0 0 0 0 0 0 ENSG00000204954 chr12 103950202 103965708 - C12orf73 protein_coding 728568 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0034551, GO:0034551, mitochondrial respiratory chain complex III assembly, mitochondrial respiratory chain complex III assembly, 4 5 7 14 7 26 6 6 12 ENSG00000204956 chr5 141330571 141512981 + PCDHGA1 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56114 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000204959 chr7 144272445 144286966 - ARHGEF34P unprocessed_pseudogene 4 4 10 4 5 4 6 7 9 ENSG00000204960 chr7 155356985 155367934 - BLACE lincRNA 338436 0 0 0 0 1 0 0 0 0 ENSG00000204961 chr5 140847463 141012344 + PCDHA9 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 9752 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000204962 chr5 140841187 141012344 + PCDHA8 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56140 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000204963 chr5 140834248 141012344 + PCDHA7 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56141 GO:0005887, GO:0005887, integral component of plasma membrane, integral component of plasma membrane, GO:0042802, GO:0005509, identical protein binding, calcium ion binding, GO:0009988, GO:0007399, GO:0007156, GO:0007155, cell-cell recognition, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000204965 chr5 140821604 141012344 + PCDHA5 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56143 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000204967 chr5 140806929 141012344 + PCDHA4 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56144 GO:0005887, integral component of plasma membrane, GO:0042802, GO:0005515, GO:0005509, identical protein binding, protein binding, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000204969 chr5 140794852 141012344 + PCDHA2 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56146 GO:0005887, GO:0005783, GO:0005634, integral component of plasma membrane, endoplasmic reticulum, nucleus, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000204970 chr5 140786136 141012347 + PCDHA1 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56147 GO:0005887, GO:0005783, GO:0005576, integral component of plasma membrane, endoplasmic reticulum, extracellular region, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000204971 chr11 72163322 72209241 - AP000812.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000204977 chr13 49995888 50020481 + TRIM13 protein_coding This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. 10206 GO:0097038, GO:0044322, GO:0016021, GO:0005789, GO:0005789, GO:0005737, perinuclear endoplasmic reticulum, endoplasmic reticulum quality control compartment, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, cytoplasm, GO:0061630, GO:0061630, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, ubiquitin protein ligase activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:1904380, GO:1902187, GO:0051865, GO:0051092, GO:0051092, GO:0045087, GO:0045087, GO:0043161, GO:0043123, GO:0043123, GO:0043123, GO:0032897, GO:0030433, GO:0030433, GO:0016567, GO:0016239, GO:0016239, GO:0010942, GO:0010332, GO:0009653, endoplasmic reticulum mannose trimming, negative regulation of viral release from host cell, protein autoubiquitination, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, innate immune response, innate immune response, proteasome-mediated ubiquitin-dependent protein catabolic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of viral transcription, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, positive regulation of macroautophagy, positive regulation of macroautophagy, positive regulation of cell death, response to gamma radiation, anatomical structure morphogenesis, 230 229 298 158 295 216 176 206 182 ENSG00000204978 chr19 41443158 41444765 + ERICH4 protein_coding 100170765 GO:0005515, protein binding, 2 0 1 3 4 6 5 0 2 ENSG00000204979 chr11 60515413 60542721 + MS4A13 protein_coding 503497 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000204982 chr9 33613848 33614009 - PRSS3P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204983 chr7 142749468 142753076 + PRSS1 protein_coding This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]. 5644 GO:0072562, GO:0062023, GO:0005615, GO:0005576, GO:0005576, blood microparticle, collagen-containing extracellular matrix, extracellular space, extracellular region, extracellular region, GO:0046872, GO:0004252, GO:0004252, metal ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0022617, GO:0009235, GO:0007586, GO:0006508, extracellular matrix disassembly, cobalamin metabolic process, digestion, proteolysis, 0 0 0 1 0 0 0 0 0 ENSG00000204989 chr11 59491652 59492581 + OR4D8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000204990 chr7 141414383 141416390 - AC005692.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000204991 chr16 89818179 89871319 + SPIRE2 protein_coding 84501 GO:0032154, GO:0030659, GO:0030659, GO:0005938, GO:0005938, GO:0005856, GO:0005829, cleavage furrow, cytoplasmic vesicle membrane, cytoplasmic vesicle membrane, cell cortex, cell cortex, cytoskeleton, cytosol, GO:0003779, actin binding, GO:2000781, GO:0070649, GO:0051639, GO:0051295, GO:0051295, GO:0048193, GO:0046907, GO:0046907, GO:0045010, GO:0040038, GO:0040038, GO:0036089, GO:0036089, GO:0030041, GO:0030036, GO:0016192, GO:0015031, positive regulation of double-strand break repair, formin-nucleated actin cable assembly, actin filament network formation, establishment of meiotic spindle localization, establishment of meiotic spindle localization, Golgi vesicle transport, intracellular transport, intracellular transport, actin nucleation, polar body extrusion after meiotic divisions, polar body extrusion after meiotic divisions, cleavage furrow formation, cleavage furrow formation, actin filament polymerization, actin cytoskeleton organization, vesicle-mediated transport, protein transport, 10 6 12 50 43 47 48 25 66 ENSG00000204993 chr2 52570648 52572522 + AC139712.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205002 chr8 116938199 116944487 + AARD protein_coding 441376 GO:0005515, protein binding, GO:0030324, lung development, 0 0 0 0 0 0 0 0 0 ENSG00000205015 chr16 89166383 89169147 + LINC02138 lincRNA 400558 0 0 0 0 0 0 0 0 0 ENSG00000205018 chr16 88939789 88951524 + AC092384.1 antisense 100129697 16 9 14 5 20 9 17 6 13 ENSG00000205022 chr16 88863333 88866660 - PABPN1L protein_coding 390748 GO:0005737, cytoplasm, GO:0003723, RNA binding, 34 14 18 25 41 41 32 26 15 ENSG00000205025 chr11 56801856 56820422 - OR5G5P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205029 chr11 55838752 55839738 + OR5D16 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390144 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205030 chr11 55827219 55828154 + OR5L2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26338 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205035 chr11 49558546 49810419 + AC136759.1 transcribed_unprocessed_pseudogene 440040 0 0 0 0 0 0 0 0 0 ENSG00000205037 chr16 88088041 88100985 - AC134312.1 lincRNA 400553 7 10 5 10 3 4 12 6 0 ENSG00000205038 chr8 109362477 109530330 + PKHD1L1 protein_coding 93035 GO:0016021, GO:0005929, GO:0005829, GO:0005615, integral component of membrane, cilium, cytosol, extracellular space, GO:0038023, signaling receptor activity, GO:0006955, immune response, 0 3 1 0 2 0 0 0 0 ENSG00000205041 chr19 40273489 40275479 - AC118344.1 sense_intronic 3 1 0 2 1 8 1 0 4 ENSG00000205044 chr11 49009959 49018589 - AC027369.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205045 chr17 35464249 35537861 - SLFN12L protein_coding 100506736 GO:0016021, integral component of membrane, 65 30 123 221 44 257 217 47 179 ENSG00000205054 chr2 45164816 45323385 - LINC01121 processed_transcript 400952 0 0 0 0 0 0 0 0 0 ENSG00000205056 chr12 92466451 92492091 + LINC02397 lincRNA 0 1 0 1 10 2 2 2 2 ENSG00000205057 chr12 92420094 92428148 - CLLU1OS protein_coding 574016 0 0 0 0 0 0 0 0 0 ENSG00000205060 chr7 134289332 134317051 - SLC35B4 protein_coding Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]. 84912 GO:0030176, GO:0030173, GO:0005794, GO:0005783, GO:0000139, integral component of endoplasmic reticulum membrane, integral component of Golgi membrane, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0022857, GO:0005515, GO:0005464, GO:0005464, GO:0005464, GO:0005462, GO:0005462, GO:0005462, transmembrane transporter activity, protein binding, UDP-xylose transmembrane transporter activity, UDP-xylose transmembrane transporter activity, UDP-xylose transmembrane transporter activity, UDP-N-acetylglucosamine transmembrane transporter activity, UDP-N-acetylglucosamine transmembrane transporter activity, UDP-N-acetylglucosamine transmembrane transporter activity, GO:1990569, GO:0015790, GO:0008643, GO:0006111, UDP-N-acetylglucosamine transmembrane transport, UDP-xylose transmembrane transport, carbohydrate transport, regulation of gluconeogenesis, 12 8 21 27 25 33 35 8 48 ENSG00000205076 chr19 38770971 38773492 - LGALS7 protein_coding The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:653499) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008]. 3963 0 0 0 0 0 0 0 0 0 ENSG00000205078 chr16 77199397 77213215 + SYCE1L protein_coding 100130958 GO:0045111, GO:0000795, intermediate filament cytoskeleton, synaptonemal complex, GO:0007130, synaptonemal complex assembly, 0 2 3 13 13 16 5 12 5 ENSG00000205084 chr16 75536744 75556286 - TMEM231 protein_coding This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]. 79583 GO:0060170, GO:0060170, GO:0036038, GO:0035869, GO:0035869, GO:0016021, ciliary membrane, ciliary membrane, MKS complex, ciliary transition zone, ciliary transition zone, integral component of membrane, GO:0005515, protein binding, GO:0060563, GO:0060271, GO:0060271, GO:0043010, GO:0042733, GO:0032880, GO:0007224, GO:0001944, GO:0001701, neuroepithelial cell differentiation, cilium assembly, cilium assembly, camera-type eye development, embryonic digit morphogenesis, regulation of protein localization, smoothened signaling pathway, vasculature development, in utero embryonic development, 4 3 6 8 4 5 12 4 3 ENSG00000205085 chr7 128672288 128687872 + FAM71F2 protein_coding 346653 43 89 73 164 181 213 205 173 198 ENSG00000205086 chr2 41935368 41956806 - C2orf91 protein_coding 400950 0 0 0 0 0 0 0 0 0 ENSG00000205089 chr5 132747445 132754403 + CCNI2 protein_coding 645121 GO:0005737, GO:0005634, GO:0000307, cytoplasm, nucleus, cyclin-dependent protein kinase holoenzyme complex, GO:0016538, cyclin-dependent protein serine/threonine kinase regulator activity, GO:0044772, GO:0000079, mitotic cell cycle phase transition, regulation of cyclin-dependent protein serine/threonine kinase activity, 6 1 1 8 1 6 12 2 3 ENSG00000205090 chr1 1535174 1540453 - TMEM240 protein_coding This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]. 339453 GO:0097060, GO:0097060, GO:0016021, synaptic membrane, synaptic membrane, integral component of membrane, 5 15 6 7 6 2 6 5 9 ENSG00000205097 chr4 190024351 190027257 - FRG2 protein_coding 448831 GO:0005634, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000205100 chr4 189472965 189475192 + HSP90AA4P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205105 chr13 46490930 46491121 + COX17P1 processed_pseudogene 0 3 0 0 0 0 0 0 1 ENSG00000205106 chr11 45771432 45772358 + DKFZp779M0652 lincRNA 374387 0 0 1 0 0 0 0 0 0 ENSG00000205108 chr9 34723055 34729467 - FAM205A protein_coding 259308 GO:0016021, GO:0005634, integral component of membrane, nucleus, 1 2 1 0 1 0 0 0 5 ENSG00000205111 chr2 39175646 39229588 - CDKL4 protein_coding 344387 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005524, GO:0004693, ATP binding, cyclin-dependent protein serine/threonine kinase activity, GO:0051726, GO:0006468, regulation of cell cycle, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000205116 chr1 1426128 1427787 + TMEM88B protein_coding 643965 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0030165, PDZ domain binding, 0 0 0 0 0 0 0 0 0 ENSG00000205126 chr11 44047981 44059977 + ACCSL protein_coding 390110 GO:0030170, GO:0003824, pyridoxal phosphate binding, catalytic activity, GO:0009058, biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000205129 chr4 185426249 185449826 + C4orf47 protein_coding 441054 GO:0097731, GO:0005881, GO:0005813, GO:0005813, 9+0 non-motile cilium, cytoplasmic microtubule, centrosome, centrosome, 1 0 0 0 0 0 0 0 0 ENSG00000205133 chr8 92883530 93017673 - TRIQK protein_coding 286144 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, 173 203 175 64 153 72 78 105 82 ENSG00000205138 chr19 35995199 35996315 + SDHAF1 protein_coding The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]. 644096 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0034553, GO:0034553, mitochondrial respiratory chain complex II assembly, mitochondrial respiratory chain complex II assembly, 21 15 22 19 24 27 17 25 20 ENSG00000205143 chr9 34621379 34628107 - ARID3C protein_coding This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]. 138715 GO:0045121, GO:0005737, GO:0005634, membrane raft, cytoplasm, nucleus, GO:0005515, GO:0003682, GO:0003677, protein binding, chromatin binding, DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 1 3 0 0 1 0 0 ENSG00000205155 chr19 35745114 35747519 + PSENEN protein_coding Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 55851 GO:0099056, GO:0070765, GO:0070765, GO:0032580, GO:0016021, GO:0010008, GO:0005887, GO:0005886, GO:0005794, GO:0005789, GO:0005783, GO:0005739, integral component of presynaptic membrane, gamma-secretase complex, gamma-secretase complex, Golgi cisterna membrane, integral component of membrane, endosome membrane, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, mitochondrion, GO:0005515, protein binding, GO:0048013, GO:0044267, GO:0043085, GO:0043065, GO:0042987, GO:0042982, GO:0035333, GO:0034205, GO:0031293, GO:0016485, GO:0016485, GO:0010950, GO:0007220, GO:0007220, GO:0006509, ephrin receptor signaling pathway, cellular protein metabolic process, positive regulation of catalytic activity, positive regulation of apoptotic process, amyloid precursor protein catabolic process, amyloid precursor protein metabolic process, Notch receptor processing, ligand-dependent, amyloid-beta formation, membrane protein intracellular domain proteolysis, protein processing, protein processing, positive regulation of endopeptidase activity, Notch receptor processing, Notch receptor processing, membrane protein ectodomain proteolysis, 292 268 307 136 271 180 157 273 245 ENSG00000205174 chr7 108883975 108884587 - C7orf66 lincRNA 154907 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000205176 chr8 85656442 85663497 - REXO1L1P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205177 chr11 33698261 33700801 - C11orf91 protein_coding 100131378 0 0 0 1 1 3 0 0 0 ENSG00000205181 chr20 5496067 5504613 - LINC00654 lincRNA 149837 24 26 22 49 33 36 52 29 25 ENSG00000205184 chr8 81634357 81635662 - SLC10A5P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205186 chr8 81458341 81461579 - FABP9 protein_coding 646480 GO:0005829, GO:0001669, cytosol, acrosomal vesicle, GO:0008289, lipid binding, GO:0019433, GO:0001675, triglyceride catabolic process, acrosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000205189 chr8 80485619 80526265 + ZBTB10 protein_coding 65986 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0000977, metal ion binding, protein binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 66 61 149 136 47 218 154 52 196 ENSG00000205208 chr4 158666679 158672255 - C4orf46 protein_coding This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]. 201725 GO:0005737, cytoplasm, GO:0005515, protein binding, 71 50 85 33 48 97 42 45 78 ENSG00000205209 chr19 34593329 34675699 - SCGB2B2 protein_coding 284402 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 5 0 0 0 0 1 ENSG00000205212 chr17 20836447 20896140 - CCDC144NL protein_coding 339184 0 0 0 0 0 0 0 0 0 ENSG00000205213 chr11 27365961 27472775 - LGR4 protein_coding The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]. 55366 GO:0005887, GO:0005887, GO:0005886, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, GO:0016500, GO:0008528, GO:0005515, GO:0004930, GO:0004888, protein-hormone receptor activity, G protein-coupled peptide receptor activity, protein binding, G protein-coupled receptor activity, transmembrane signaling receptor activity, GO:2001013, GO:0120163, GO:0090263, GO:0090190, GO:0072282, GO:0072224, GO:0072202, GO:0061290, GO:0048565, GO:0046849, GO:0045893, GO:0045892, GO:0045087, GO:0036335, GO:0034122, GO:0032922, GO:0030539, GO:0030282, GO:0009755, GO:0007283, GO:0007190, GO:0007189, GO:0001942, GO:0001818, GO:0001649, epithelial cell proliferation involved in renal tubule morphogenesis, negative regulation of cold-induced thermogenesis, positive regulation of canonical Wnt signaling pathway, positive regulation of branching involved in ureteric bud morphogenesis, metanephric nephron tubule morphogenesis, metanephric glomerulus development, cell differentiation involved in metanephros development, canonical Wnt signaling pathway involved in metanephric kidney development, digestive tract development, bone remodeling, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, innate immune response, intestinal stem cell homeostasis, negative regulation of toll-like receptor signaling pathway, circadian regulation of gene expression, male genitalia development, bone mineralization, hormone-mediated signaling pathway, spermatogenesis, activation of adenylate cyclase activity, adenylate cyclase-activating G protein-coupled receptor signaling pathway, hair follicle development, negative regulation of cytokine production, osteoblast differentiation, 2 1 1 1 0 0 0 1 0 ENSG00000205215 chr17 20519312 20528687 - KRT17P7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205220 chr16 67934502 67937087 - PSMB10 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]. 5699 GO:1990111, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000502, spermatoproteasome complex, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleus, proteasome complex, GO:0005515, GO:0004298, GO:0004175, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0042098, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006959, GO:0006521, GO:0002479, GO:0002223, GO:0000902, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, T cell proliferation, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, humoral immune response, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, cell morphogenesis, protein polyubiquitination, MAPK cascade, 414 326 294 146 239 170 140 246 157 ENSG00000205221 chr2 36696690 36814792 + VIT protein_coding This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by RefSeq, Jun 2016]. 5212 GO:0062023, GO:0005614, collagen-containing extracellular matrix, interstitial matrix, GO:0005539, glycosaminoglycan binding, GO:0030198, GO:0021510, GO:0010811, extracellular matrix organization, spinal cord development, positive regulation of cell-substrate adhesion, 0 0 0 3 0 4 1 0 0 ENSG00000205231 chr1 1173056 1179555 - TTLL10-AS1 antisense 100506376 0 1 0 4 0 0 0 0 0 ENSG00000205236 chr7 102582523 102642869 - AC105052.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000205238 chr7 102551232 102562308 + SPDYE2 protein_coding 441273 GO:0019901, GO:0005515, protein kinase binding, protein binding, 18 17 15 9 10 23 16 8 25 ENSG00000205240 chr13 41431248 41432201 - OR7E36P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205250 chr16 67192169 67198918 + E2F4 protein_coding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008]. 1874 GO:0090575, GO:0005737, GO:0005654, GO:0005654, GO:0000785, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, cytoplasm, nucleoplasm, nucleoplasm, chromatin, chromatin, chromatin, GO:1990841, GO:1990837, GO:0046983, GO:0019904, GO:0008134, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001216, GO:0000981, GO:0000981, GO:0000978, GO:0000978, promoter-specific chromatin binding, sequence-specific double-stranded DNA binding, protein dimerization activity, protein domain specific binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1903251, GO:0098534, GO:0045944, GO:0045944, GO:0045944, GO:0044458, GO:0042127, GO:0009887, GO:0008015, GO:0006977, GO:0006884, GO:0006357, GO:0002064, GO:0000083, multi-ciliated epithelial cell differentiation, centriole assembly, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, motile cilium assembly, regulation of cell population proliferation, animal organ morphogenesis, blood circulation, DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest, cell volume homeostasis, regulation of transcription by RNA polymerase II, epithelial cell development, regulation of transcription involved in G1/S transition of mitotic cell cycle, 454 424 564 266 449 330 313 352 332 ENSG00000205266 chr17 18415728 18425097 + KRT17P5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205267 chr7 101201809 101203526 - DGAT2L7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205268 chr8 65717510 65842322 - PDE7A protein_coding The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]. 5150 GO:0005829, cytosol, GO:0046872, GO:0004115, GO:0004115, GO:0004115, GO:0004114, metal ion binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0019933, GO:0007186, GO:0007165, GO:0006198, cAMP-mediated signaling, G protein-coupled receptor signaling pathway, signal transduction, cAMP catabolic process, 734 739 853 936 958 1028 868 670 795 ENSG00000205269 chr6 11538278 11583524 + TMEM170B protein_coding 100113407 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0090090, GO:0016055, negative regulation of canonical Wnt signaling pathway, Wnt signaling pathway, 889 1936 1185 105 766 328 247 552 340 ENSG00000205274 chr9 33617762 33618506 + TRBV20OR9-2 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000205277 chr7 100969623 101018949 + MUC12 protein_coding This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]. 10071 GO:0005887, GO:0005886, GO:0005796, integral component of plasma membrane, plasma membrane, Golgi lumen, GO:0003674, molecular_function, GO:0016266, GO:0002223, GO:0001558, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, regulation of cell growth, 0 1 2 3 4 0 0 0 6 ENSG00000205279 chr5 127649044 127658630 + CTXN3 protein_coding 613212 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000205293 chr8 57855500 57984126 + LINC01602 lincRNA 100505477 0 1 0 0 0 0 0 2 0 ENSG00000205300 chr20 4070152 4075165 - AL356414.1 lincRNA 0 0 0 1 0 4 0 0 1 ENSG00000205301 chr4 140442262 140498377 - MGAT4D protein_coding 152586 GO:0016021, GO:0005795, GO:0005793, GO:0005789, GO:0005783, GO:0000139, integral component of membrane, Golgi stack, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0008375, acetylglucosaminyltransferase activity, GO:0060051, GO:0030154, GO:0007283, GO:0006487, negative regulation of protein glycosylation, cell differentiation, spermatogenesis, protein N-linked glycosylation, 0 0 0 0 0 0 0 0 0 ENSG00000205302 chr5 122774996 122830108 + SNX2 protein_coding This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]. 6643 GO:0032991, GO:0031901, GO:0030905, GO:0030905, GO:0030904, GO:0030027, GO:0016020, GO:0010008, GO:0010008, GO:0005829, GO:0005768, GO:0005768, GO:0005764, GO:0005737, protein-containing complex, early endosome membrane, retromer, tubulation complex, retromer, tubulation complex, retromer complex, lamellipodium, membrane, endosome membrane, endosome membrane, cytosol, endosome, endosome, lysosome, cytoplasm, GO:1990460, GO:1990459, GO:0046982, GO:0045296, GO:0042803, GO:0042802, GO:0035091, GO:0005515, GO:0005158, GO:0005154, leptin receptor binding, transferrin receptor binding, protein heterodimerization activity, cadherin binding, protein homodimerization activity, identical protein binding, phosphatidylinositol binding, protein binding, insulin receptor binding, epidermal growth factor receptor binding, GO:0072673, GO:0042147, GO:0042147, GO:0034498, GO:0006897, GO:0006886, lamellipodium morphogenesis, retrograde transport, endosome to Golgi, retrograde transport, endosome to Golgi, early endosome to Golgi transport, endocytosis, intracellular protein transport, 561 411 495 325 380 352 332 340 327 ENSG00000205307 chr7 100572228 100573820 - SAP25 protein_coding 100316904 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000205309 chr17 17303335 17347663 + NT5M protein_coding This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 56953 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0046872, GO:0008253, GO:0008252, GO:0000166, metal ion binding, 5'-nucleotidase activity, nucleotidase activity, nucleotide binding, GO:0046135, GO:0046079, GO:0016311, GO:0009223, GO:0006260, pyrimidine nucleoside catabolic process, dUMP catabolic process, dephosphorylation, pyrimidine deoxyribonucleotide catabolic process, DNA replication, 0 0 0 9 2 7 0 1 3 ENSG00000205312 chr17 16847635 16852777 - KRT17P4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205318 chr6 10633762 10634695 + GCNT2P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205323 chr12 55752463 55817756 - SARNP protein_coding This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. 84324 GO:0036464, GO:0016607, GO:0005654, GO:0005634, GO:0005634, GO:0000346, cytoplasmic ribonucleoprotein granule, nuclear speck, nucleoplasm, nucleus, nucleus, transcription export complex, GO:0005515, GO:0003723, GO:0003682, GO:0003677, protein binding, RNA binding, chromatin binding, DNA binding, GO:0031124, GO:0016973, GO:0006417, GO:0006406, GO:0006406, GO:0006405, GO:0000122, mRNA 3'-end processing, poly(A)+ mRNA export from nucleus, regulation of translation, mRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, negative regulation of transcription by RNA polymerase II, 20 3 13 26 16 24 15 18 7 ENSG00000205325 chr17 14767583 14780203 - AC005863.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000205327 chr12 55492378 55493316 + OR6C68 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014]. 403284 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205328 chr12 55400430 55401505 + OR6C65 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403282 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205329 chr12 55330043 55332687 + OR6C3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 254786 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205330 chr12 55314343 55322364 + OR6C1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390321 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205331 chr12 55283750 55284641 + OR6C72P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205333 chr8 86657388 86660293 - GOLGA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205334 chr2 27705786 27715732 - LINC01460 lincRNA 100129995 0 0 0 0 0 0 0 0 0 ENSG00000205336 chr16 57610652 57665580 + ADGRG1 protein_coding This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 9289 GO:0097451, GO:0070062, GO:0045121, GO:0016021, GO:0005887, glial limiting end-foot, extracellular exosome, membrane raft, integral component of membrane, integral component of plasma membrane, GO:0050840, GO:0008201, GO:0008201, GO:0005518, GO:0005515, GO:0004930, GO:0004930, extracellular matrix binding, heparin binding, heparin binding, collagen binding, protein binding, G protein-coupled receptor activity, G protein-coupled receptor activity, GO:2001223, GO:2000179, GO:0072520, GO:0070528, GO:0045785, GO:0035025, GO:0021819, GO:0021801, GO:0021796, GO:0016477, GO:0010573, GO:0008285, GO:0007420, GO:0007267, GO:0007266, GO:0007189, GO:0007186, GO:0007166, GO:0007155, GO:0001525, negative regulation of neuron migration, positive regulation of neural precursor cell proliferation, seminiferous tubule development, protein kinase C signaling, positive regulation of cell adhesion, positive regulation of Rho protein signal transduction, layer formation in cerebral cortex, cerebral cortex radial glia guided migration, cerebral cortex regionalization, cell migration, vascular endothelial growth factor production, negative regulation of cell population proliferation, brain development, cell-cell signaling, Rho protein signal transduction, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, cell adhesion, angiogenesis, 145 178 285 568 618 1070 428 540 675 ENSG00000205339 chr11 9384622 9448126 + IPO7 protein_coding The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008]. 10527 GO:0016020, GO:0005829, GO:0005829, GO:0005654, GO:0005643, GO:0005635, membrane, cytosol, cytosol, nucleoplasm, nuclear pore, nuclear envelope, GO:0046332, GO:0042393, GO:0031267, GO:0030695, GO:0005515, GO:0005215, SMAD binding, histone binding, small GTPase binding, GTPase regulator activity, protein binding, transporter activity, GO:0045736, GO:0045087, GO:0016032, GO:0007165, GO:0006606, negative regulation of cyclin-dependent protein serine/threonine kinase activity, innate immune response, viral process, signal transduction, protein import into nucleus, 144 115 344 264 106 258 237 99 158 ENSG00000205352 chr12 53441605 53446645 + PRR13 protein_coding 54458 GO:0005829, GO:0005654, GO:0005654, cytosol, nucleoplasm, nucleoplasm, GO:0005515, protein binding, 2330 2665 2977 1115 2407 1863 1533 2244 1641 ENSG00000205356 chr7 98214624 98252251 - TECPR1 protein_coding This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]. 25851 GO:0043231, GO:0031410, GO:0016021, GO:0005765, GO:0005765, GO:0005654, GO:0000421, GO:0000421, intracellular membrane-bounded organelle, cytoplasmic vesicle, integral component of membrane, lysosomal membrane, lysosomal membrane, nucleoplasm, autophagosome membrane, autophagosome membrane, GO:0032266, GO:0032266, GO:0005515, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3-phosphate binding, protein binding, GO:0097352, GO:0006914, autophagosome maturation, autophagy, 778 612 709 597 507 542 630 457 428 ENSG00000205358 chr16 56669814 56671129 + MT1H protein_coding 4496 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0071294, GO:0071294, GO:0071280, GO:0071276, GO:0071276, GO:0045926, GO:0010273, GO:0006882, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, cellular response to cadmium ion, negative regulation of growth, detoxification of copper ion, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000205359 chr5 102371782 102499016 - SLCO6A1 protein_coding 133482 GO:0005887, integral component of plasma membrane, GO:0015347, sodium-independent organic anion transmembrane transporter activity, GO:0055085, GO:0043252, transmembrane transport, sodium-independent organic anion transport, 0 0 0 0 0 0 0 0 0 ENSG00000205360 chr16 56648248 56649514 + MT1CP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205361 chr16 56643705 56644786 + MT1DP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205362 chr16 56638666 56640087 + MT1A protein_coding This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. The conserved cysteine residues co-ordinate metal ions using mercaptide linkages. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. Disruption of two metallothionein genes in mouse resulted in defects in protection against heavy metals, oxidative stress, immune reactions, carcinogens, and displayed obesity. [provided by RefSeq, Sep 2017]. 4489 GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0071294, GO:0071294, GO:0071280, GO:0071276, GO:0071276, GO:0045926, GO:0010273, GO:0010038, GO:0006882, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, cellular response to cadmium ion, negative regulation of growth, detoxification of copper ion, response to metal ion, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000205363 chr15 73735431 73752747 - INSYN1 protein_coding 388135 GO:0014069, postsynaptic density, GO:0005515, protein binding, GO:0060080, inhibitory postsynaptic potential, 0 0 0 0 0 0 0 0 0 ENSG00000205364 chr16 56632233 56633986 + MT1M protein_coding This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011]. 4499 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0046872, GO:0008270, GO:0005515, metal ion binding, zinc ion binding, protein binding, GO:0071294, GO:0071294, GO:0071280, GO:0071276, GO:0045926, GO:0010273, GO:0006882, cellular response to zinc ion, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, negative regulation of growth, detoxification of copper ion, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000205396 chr19 16015287 16027462 + LINC00661 processed_transcript 126536 0 0 0 0 0 0 0 0 0 ENSG00000205403 chr4 109740694 109802179 - CFI protein_coding This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]. 3426 GO:0070062, GO:0016020, GO:0005615, GO:0005576, extracellular exosome, membrane, extracellular space, extracellular region, GO:0046872, GO:0005515, GO:0005044, GO:0004252, metal ion binding, protein binding, scavenger receptor activity, serine-type endopeptidase activity, GO:0045087, GO:0030449, GO:0016032, GO:0006958, GO:0006897, GO:0006508, innate immune response, regulation of complement activation, viral process, complement activation, classical pathway, endocytosis, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000205409 chr11 5840928 5841952 - OR52E6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390078 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205412 chr3 148166344 148167298 - HNRNPA1P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205413 chr7 93099513 93118023 - SAMD9 protein_coding This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]. 54809 GO:0043231, GO:0005829, GO:0005737, GO:0005737, intracellular membrane-bounded organelle, cytosol, cytoplasm, cytoplasm, GO:0005515, protein binding, GO:0034058, endosomal vesicle fusion, 2115 1757 2640 752 1432 1478 1065 1213 1260 ENSG00000205414 chr16 50606076 50613684 - AC007608.1 antisense 0 2 0 0 0 0 0 0 0 ENSG00000205420 chr12 52487174 52493257 - KRT6A protein_coding The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]. 3853 GO:0070062, GO:0045095, GO:0016020, GO:0005829, GO:0005634, extracellular exosome, keratin filament, membrane, cytosol, nucleus, GO:0005515, GO:0005200, protein binding, structural constituent of cytoskeleton, GO:2000536, GO:0070268, GO:0061844, GO:0061844, GO:0051838, GO:0051838, GO:0050830, GO:0050830, GO:0042060, GO:0031424, GO:0030154, GO:0008284, GO:0007010, GO:0002009, GO:0001899, negative regulation of entry of bacterium into host cell, cornification, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, cytolysis by host of symbiont cells, cytolysis by host of symbiont cells, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, wound healing, keratinization, cell differentiation, positive regulation of cell population proliferation, cytoskeleton organization, morphogenesis of an epithelium, negative regulation of cytolysis by symbiont of host cells, 0 0 0 0 0 0 0 0 0 ENSG00000205423 chr16 50024410 50037088 + CNEP1R1 protein_coding This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 255919 GO:0071595, GO:0031965, GO:0016021, GO:0005829, GO:0005737, GO:0005635, Nem1-Spo7 phosphatase complex, nuclear membrane, integral component of membrane, cytosol, cytoplasm, nuclear envelope, GO:0005515, protein binding, GO:0035307, GO:0034504, GO:0010867, GO:0007077, GO:0006629, positive regulation of protein dephosphorylation, protein localization to nucleus, positive regulation of triglyceride biosynthetic process, mitotic nuclear envelope disassembly, lipid metabolic process, 444 440 382 164 393 283 211 292 292 ENSG00000205424 chr21 45827961 45836419 - AL592528.1 antisense 0 2 1 6 0 3 2 0 6 ENSG00000205426 chr12 52285913 52291534 - KRT81 protein_coding The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]. 3887 GO:0045095, GO:0005829, GO:0005615, keratin filament, cytosol, extracellular space, GO:0005515, protein binding, GO:0070268, GO:0031424, cornification, keratinization, 0 0 1 0 0 0 2 0 0 ENSG00000205433 chr10 116409256 116409475 + SNRPGP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205436 chr14 103100144 103110559 + EXOC3L4 protein_coding 91828 GO:0000145, exocyst, GO:0000149, SNARE binding, GO:0051601, GO:0006887, exocyst localization, exocytosis, 0 0 2 0 1 0 0 0 0 ENSG00000205439 chr21 44657932 44658341 + KRTAP12-3 protein_coding 386683 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 2 0 ENSG00000205442 chr9 24542952 24545946 - IZUMO3 protein_coding 100129669 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0042803, protein homodimerization activity, 0 0 0 0 0 0 0 0 0 ENSG00000205444 chr6 4610612 4611919 + KU-MEL-3 lincRNA 497048 0 0 0 0 0 0 0 0 0 ENSG00000205445 chr21 44550357 44551505 - KRTAP10-2 protein_coding This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]. 386679 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 1 2 0 0 4 0 0 0 0 ENSG00000205449 chr5 86282460 86296463 + NBPF22P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205452 chr16 33964547 33976346 - AC140658.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000205456 chr16 32252719 32255922 + TP53TG3D protein_coding 729264 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000205457 chr16 33193659 33196858 + TP53TG3C protein_coding 653550 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000205464 chr5 82279462 82386977 + ATP6AP1L protein_coding 92270 GO:0033181, GO:0033180, GO:0016021, plasma membrane proton-transporting V-type ATPase complex, proton-transporting V-type ATPase, V1 domain, integral component of membrane, GO:1902600, GO:0030641, proton transmembrane transport, regulation of cellular pH, 2 1 0 4 3 1 7 6 10 ENSG00000205476 chr14 99500180 99604026 - CCDC85C protein_coding 317762 GO:0043296, GO:0043296, GO:0005923, GO:0005912, apical junction complex, apical junction complex, bicellular tight junction, adherens junction, GO:0021987, cerebral cortex development, 1692 2169 2380 1576 2149 2218 1740 1581 1882 ENSG00000205482 chr7 77052785 77060512 - SPDYE18 unprocessed_pseudogene 50 44 43 41 61 32 74 41 69 ENSG00000205485 chr7 76549360 76627982 + AC004980.1 transcribed_unprocessed_pseudogene 100133091 0 0 0 0 0 0 0 0 0 ENSG00000205488 chr10 5514244 5526246 - CALML3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000205494 chr11 5120621 5124513 - OR52A4P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205495 chr11 5046526 5047461 + OR52J3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 119679 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205496 chr11 4954772 4955713 - OR51A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401667 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205497 chr11 4942831 4947605 - OR51A4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401666 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000205500 chr2 26984776 27014612 - AC013472.1 processed_transcript 100129724 4 0 2 0 5 5 0 2 0 ENSG00000205502 chr15 62163535 62165283 - C2CD4B protein_coding 388125 GO:0005634, nucleus, GO:0030155, GO:0002675, GO:0002528, regulation of cell adhesion, positive regulation of acute inflammatory response, regulation of vascular permeability involved in acute inflammatory response, 0 0 1 2 0 0 0 0 0 ENSG00000205517 chr19 11384341 11419342 - RGL3 protein_coding 57139 GO:0005515, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, GO:0043547, GO:0007264, positive regulation of GTPase activity, small GTPase mediated signal transduction, 38 59 76 62 81 94 41 54 77 ENSG00000205531 chr11 2944431 2992377 - NAP1L4 protein_coding This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008]. 4676 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0051082, GO:0042393, GO:0031491, GO:0005515, GO:0003723, GO:0003682, unfolded protein binding, histone binding, nucleosome binding, protein binding, RNA binding, chromatin binding, GO:0030154, GO:0006334, GO:0006334, cell differentiation, nucleosome assembly, nucleosome assembly, 69 44 116 70 57 30 49 71 102 ENSG00000205534 chr16 29527568 29594966 - SMG1P2 unprocessed_pseudogene 92 118 119 75 120 118 127 71 90 ENSG00000205537 chr12 47882649 47901525 + AC121338.1 antisense 47 51 80 35 36 27 28 31 36 ENSG00000205542 chrX 12975108 12977227 + TMSB4X protein_coding This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]. 7114 GO:0031093, GO:0005856, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005576, GO:0005576, platelet alpha granule lumen, cytoskeleton, cytosol, cytoplasm, cytoplasm, nucleus, extracellular region, extracellular region, GO:0019899, GO:0005515, GO:0003785, GO:0003785, GO:0003723, enzyme binding, protein binding, actin monomer binding, actin monomer binding, RNA binding, GO:2001171, GO:2001028, GO:1905273, GO:1903026, GO:1901223, GO:1901222, GO:0050727, GO:0043536, GO:0043536, GO:0042989, GO:0042989, GO:0033209, GO:0032717, GO:0032088, GO:0030334, GO:0007253, GO:0007015, GO:0002576, positive regulation of ATP biosynthetic process, positive regulation of endothelial cell chemotaxis, positive regulation of proton-transporting ATP synthase activity, rotational mechanism, negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding, negative regulation of NIK/NF-kappaB signaling, regulation of NIK/NF-kappaB signaling, regulation of inflammatory response, positive regulation of blood vessel endothelial cell migration, positive regulation of blood vessel endothelial cell migration, sequestering of actin monomers, sequestering of actin monomers, tumor necrosis factor-mediated signaling pathway, negative regulation of interleukin-8 production, negative regulation of NF-kappaB transcription factor activity, regulation of cell migration, cytoplasmic sequestering of NF-kappaB, actin filament organization, platelet degranulation, 18083 19041 28121 8726 15120 16396 10014 15440 14400 ENSG00000205544 chr17 7402975 7404137 - TMEM256 protein_coding 254863 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0003674, molecular_function, GO:0008150, biological_process, 4 0 2 8 7 8 4 6 6 ENSG00000205549 chr9 16203935 16410990 - C9orf92 protein_coding 100129385 0 0 0 0 0 0 0 0 0 ENSG00000205559 chr22 50583026 50587640 + CHKB-DT antisense 100144603 2 2 0 1 0 0 0 0 0 ENSG00000205560 chr22 50568861 50578465 - CPT1B protein_coding The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]. 1375 GO:0016021, GO:0005741, GO:0005739, GO:0005739, GO:0005739, integral component of membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, mitochondrion, GO:0005515, GO:0004095, GO:0004095, protein binding, carnitine O-palmitoyltransferase activity, carnitine O-palmitoyltransferase activity, GO:0015909, GO:0009637, GO:0009437, GO:0006853, GO:0006635, GO:0006631, long-chain fatty acid transport, response to blue light, carnitine metabolic process, carnitine shuttle, fatty acid beta-oxidation, fatty acid metabolic process, 16 11 3 25 22 9 31 6 6 ENSG00000205562 chr14 85524432 85529988 - AL049775.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000205571 chr5 70049612 70078522 + SMN2 protein_coding This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]. 6607 GO:0097504, GO:0097504, GO:0043204, GO:0043005, GO:0036464, GO:0034719, GO:0032797, GO:0032797, GO:0030424, GO:0030018, GO:0016604, GO:0015030, GO:0015030, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, Gemini of coiled bodies, Gemini of coiled bodies, perikaryon, neuron projection, cytoplasmic ribonucleoprotein granule, SMN-Sm protein complex, SMN complex, SMN complex, axon, Z disc, nuclear body, Cajal body, Cajal body, cytosol, cytosol, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0005515, GO:0003723, identical protein binding, protein binding, RNA binding, GO:0051170, GO:0007399, GO:0006353, GO:0000387, GO:0000387, GO:0000387, GO:0000245, GO:0000245, import into nucleus, nervous system development, DNA-templated transcription, termination, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal snRNP assembly, spliceosomal complex assembly, spliceosomal complex assembly, 1 0 7 1 1 2 4 3 2 ENSG00000205572 chr5 70025247 70043113 + SERF1B protein_coding This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008]. 728492 GO:0032991, GO:0005829, GO:0005634, protein-containing complex, cytosol, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1990000, GO:0031648, GO:0007399, amyloid fibril formation, protein destabilization, nervous system development, 0 0 0 0 0 3 0 1 0 ENSG00000205578 chr7 73293497 73301161 + POM121B unprocessed_pseudogene 25 3 23 23 2 40 23 3 10 ENSG00000205579 chr14 81246295 81246563 - DYNLL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205581 chr21 39342315 39349647 - HMGN1 protein_coding The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011]. 3150 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:0031492, GO:0003682, GO:0003677, nucleosomal DNA binding, chromatin binding, DNA binding, GO:1901666, GO:0050678, GO:0048597, GO:0040034, GO:0032786, GO:0010225, GO:0010224, GO:0006357, GO:0006325, GO:0006325, GO:0006283, GO:0000720, positive regulation of NAD+ ADP-ribosyltransferase activity, regulation of epithelial cell proliferation, post-embryonic camera-type eye morphogenesis, regulation of development, heterochronic, positive regulation of DNA-templated transcription, elongation, response to UV-C, response to UV-B, regulation of transcription by RNA polymerase II, chromatin organization, chromatin organization, transcription-coupled nucleotide-excision repair, pyrimidine dimer repair by nucleotide-excision repair, 1262 1366 1573 1063 1195 1462 1142 1032 911 ENSG00000205583 chr7 75359194 75395383 + STAG3L1 transcribed_unprocessed_pseudogene 27 15 22 31 7 39 30 11 34 ENSG00000205584 chr7 72969814 72971727 + AC211476.1 unprocessed_pseudogene 5 4 1 7 6 12 16 2 15 ENSG00000205592 chr12 40393395 40570832 + MUC19 protein_coding This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014]. 283463 GO:0005886, GO:0005796, GO:0005576, plasma membrane, Golgi lumen, extracellular region, GO:0016266, GO:0002223, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 1 2 1 11 0 0 1 2 3 ENSG00000205593 chr22 50309030 50327060 - DENND6B protein_coding 414918 GO:0055037, GO:0005829, recycling endosome, cytosol, GO:0005085, GO:0005085, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, 0 5 11 3 4 18 8 9 4 ENSG00000205596 chr7 66070904 66071318 - AC068533.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205609 chr16 28379579 28403879 - EIF3CL protein_coding The protein encoded by this gene is a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex. The encoded protein is nearly identical to another protein, eIF3c, from a related gene. The eIF3 complex binds the 40S ribosome and mRNAs to enable translation initiation. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]. 728689 GO:0033290, GO:0016282, GO:0005852, eukaryotic 48S preinitiation complex, eukaryotic 43S preinitiation complex, eukaryotic translation initiation factor 3 complex, GO:0031369, GO:0005515, GO:0003743, translation initiation factor binding, protein binding, translation initiation factor activity, GO:0006413, GO:0001732, translational initiation, formation of cytoplasmic translation initiation complex, 22 4 1 2 1 3 1 5 3 ENSG00000205611 chr20 30278906 30288479 - LINC01597 lincRNA 107985433 0 0 0 4 0 0 3 1 0 ENSG00000205622 chr21 38863676 38956467 - AP001043.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000205625 chr6 154706643 154707795 + AL591499.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205628 chr7 53655509 53811931 - LINC01446 lincRNA 401337 0 0 0 0 0 0 0 0 0 ENSG00000205629 chr16 25111729 25178231 + LCMT1 protein_coding LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008]. 51451 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0018423, GO:0018423, GO:0008757, GO:0005515, GO:0003880, protein C-terminal leucine carboxyl O-methyltransferase activity, protein C-terminal leucine carboxyl O-methyltransferase activity, S-adenosylmethionine-dependent methyltransferase activity, protein binding, protein C-terminal carboxyl O-methyltransferase activity, GO:0090266, GO:0042981, GO:0031333, GO:0010906, GO:0006481, GO:0006481, GO:0006479, GO:0006464, GO:0000086, regulation of mitotic cell cycle spindle assembly checkpoint, regulation of apoptotic process, negative regulation of protein-containing complex assembly, regulation of glucose metabolic process, C-terminal protein methylation, C-terminal protein methylation, protein methylation, cellular protein modification process, G2/M transition of mitotic cell cycle, 50 43 53 57 49 37 38 32 40 ENSG00000205632 chr22 48866770 48898386 + LINC01310 lincRNA 100128946 0 0 0 0 0 0 0 0 0 ENSG00000205634 chr22 47621043 47631569 - LINC00898 lincRNA 400932 0 0 0 0 0 0 0 0 0 ENSG00000205636 chr9 13927971 13945610 + LINC00583 lincRNA 100113404 0 0 0 0 0 0 0 0 0 ENSG00000205639 chr2 24010081 24063321 + MFSD2B protein_coding 388931 GO:0005887, GO:0005887, integral component of plasma membrane, integral component of plasma membrane, GO:0046624, GO:0046624, GO:0015293, GO:0005215, sphingolipid transporter activity, sphingolipid transporter activity, symporter activity, transporter activity, GO:0071702, GO:0055085, GO:0008643, GO:0006869, organic substance transport, transmembrane transport, carbohydrate transport, lipid transport, 0 4 5 0 0 2 1 2 1 ENSG00000205642 chrX 8464830 8466510 + VCX3B protein_coding This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010]. 425054 GO:0005730, GO:0005634, nucleolus, nucleus, GO:0007420, brain development, 0 0 0 0 0 0 0 0 0 ENSG00000205643 chr22 46244011 46250679 - CDPF1 protein_coding 150383 GO:0005515, protein binding, 2 1 10 1 3 9 4 2 23 ENSG00000205644 chr5 65415353 65416222 + AC025186.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205649 chr4 70028413 70036538 + HTN3 protein_coding This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Sep 2014]. 3347 GO:0005576, GO:0005576, extracellular region, extracellular region, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0050832, GO:0042742, GO:0031640, GO:0031214, GO:0019730, defense response to fungus, defense response to bacterium, killing of cells of other organism, biomineral tissue development, antimicrobial humoral response, 0 0 0 0 0 0 0 0 0 ENSG00000205653 chr6 203313 206392 + AL035696.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000205659 chr14 74084796 74201235 + LIN52 protein_coding 91750 GO:0070176, GO:0005654, DRM complex, nucleoplasm, GO:0005515, protein binding, GO:0051726, GO:0006351, regulation of cell cycle, transcription, DNA-templated, 14 25 15 14 34 30 25 11 15 ENSG00000205667 chrX 3006613 3033571 + ARSH protein_coding Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]. 347527 GO:0016021, GO:0005788, integral component of membrane, endoplasmic reticulum lumen, GO:0046872, GO:0004065, GO:0004065, metal ion binding, arylsulfatase activity, arylsulfatase activity, 0 0 0 0 0 0 0 0 0 ENSG00000205669 chr14 73610945 73619888 + ACOT6 protein_coding 641372 GO:0005829, GO:0005782, cytosol, peroxisomal matrix, GO:0052689, GO:0047617, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, GO:0006637, GO:0006637, GO:0006631, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, 0 0 0 1 0 0 0 0 0 ENSG00000205670 chr21 34375480 34407866 + SMIM11A protein_coding 54065 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 9 1 0 1 2 0 1 0 ENSG00000205678 chr4 64275257 64409468 - TECRL protein_coding The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017]. 253017 GO:0016021, GO:0005783, integral component of membrane, endoplasmic reticulum, GO:0016627, GO:0016491, oxidoreductase activity, acting on the CH-CH group of donors, oxidoreductase activity, GO:0055114, GO:0042761, oxidation-reduction process, very long-chain fatty acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000205682 chr4 61420246 61428221 - AC020741.1 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000205683 chr14 72619296 72894116 - DPF3 protein_coding This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 8110 GO:0071565, GO:0071565, GO:0005654, GO:0000785, nBAF complex, nBAF complex, nucleoplasm, chromatin, GO:0042393, GO:0008270, GO:0003712, histone binding, zinc ion binding, transcription coregulator activity, GO:0045944, GO:0045892, GO:0008150, GO:0007399, GO:0006325, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, biological_process, nervous system development, chromatin organization, 0 0 0 1 4 0 0 0 0 ENSG00000205693 chr12 27762738 27771276 - MANSC4 protein_coding 100287284 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000205695 chr6 139659928 139661513 + AL390205.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205696 chr10 1526637 1556984 + ADARB2-AS1 antisense 642394 0 0 0 1 0 0 0 0 0 ENSG00000205702 chr22 42140203 42144577 - CYP2D7 polymorphic_pseudogene This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating pseudogene, where some individuals may have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. In this case, the functional allele is thought to be rare. This locus is part of a cluster of cytochrome P450 genes on chromosome 22. [provided by RefSeq, Jan 2017]. 1564 GO:0043231, GO:0016021, GO:0005739, GO:0005737, GO:0005737, intracellular membrane-bounded organelle, integral component of membrane, mitochondrion, cytoplasm, cytoplasm, GO:0070330, GO:0070330, GO:0020037, GO:0016712, GO:0008395, GO:0005506, aromatase activity, aromatase activity, heme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, iron ion binding, GO:0055114, GO:0042738, GO:0042738, GO:0042738, GO:0019369, GO:0006805, GO:0006805, GO:0006805, GO:0006082, oxidation-reduction process, exogenous drug catabolic process, exogenous drug catabolic process, exogenous drug catabolic process, arachidonic acid metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, xenobiotic metabolic process, organic acid metabolic process, 0 3 8 5 3 44 11 7 0 ENSG00000205704 chr22 41952165 41958933 + LINC00634 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205707 chr12 25195216 25209645 + ETFRF1 protein_coding 144363 GO:0005739, mitochondrion, GO:0005515, protein binding, GO:0022904, respiratory electron transport chain, 354 366 540 157 265 256 163 255 257 ENSG00000205710 chr17 4899418 4902932 + C17orf107 protein_coding 100130311 546 819 706 811 1958 2203 964 1825 1907 ENSG00000205716 chr2 102249857 102250255 - FAM183DP processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000205718 chr19 7037748 7040179 - MBD3L4 protein_coding This gene encodes a member of a family of proteins that are related to methyl-CpG-binding proteins but lack the methyl-CpG binding domain. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Aug 2009]. 653656 0 0 0 0 0 0 0 0 0 ENSG00000205726 chr21 33642400 33899861 + ITSN1 protein_coding The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]. 6453 GO:0098978, GO:0097708, GO:0097440, GO:0055037, GO:0043197, GO:0043025, GO:0042734, GO:0030027, GO:0005905, GO:0005905, GO:0005905, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005635, glutamatergic synapse, intracellular vesicle, apical dendrite, recycling endosome, dendritic spine, neuronal cell body, presynaptic membrane, lamellipodium, clathrin-coated pit, clathrin-coated pit, clathrin-coated pit, plasma membrane, plasma membrane, cytosol, cytoplasm, nuclear envelope, GO:0070064, GO:0060090, GO:0060090, GO:0005515, GO:0005509, GO:0005085, proline-rich region binding, molecular adaptor activity, molecular adaptor activity, protein binding, calcium ion binding, guanyl-nucleotide exchange factor activity, GO:2001288, GO:1905274, GO:0150007, GO:0061024, GO:0060999, GO:0060124, GO:0051056, GO:0048013, GO:0043065, GO:0035556, GO:0034613, GO:0033674, GO:0016197, GO:0016032, GO:0015031, GO:0007420, GO:0007186, GO:0006897, GO:0006887, positive regulation of caveolin-mediated endocytosis, regulation of modification of postsynaptic actin cytoskeleton, clathrin-dependent synaptic vesicle endocytosis, membrane organization, positive regulation of dendritic spine development, positive regulation of growth hormone secretion, regulation of small GTPase mediated signal transduction, ephrin receptor signaling pathway, positive regulation of apoptotic process, intracellular signal transduction, cellular protein localization, positive regulation of kinase activity, endosomal transport, viral process, protein transport, brain development, G protein-coupled receptor signaling pathway, endocytosis, exocytosis, 15 46 29 12 17 24 33 16 5 ENSG00000205730 chr16 19113932 19121629 + ITPRIPL2 protein_coding 162073 GO:0016021, integral component of membrane, 7 11 23 8 5 14 9 8 11 ENSG00000205740 chr10 971146 988341 - AL359878.1 processed_transcript 107984285 3 1 3 2 2 0 2 2 4 ENSG00000205744 chr19 6467207 6482557 - DENND1C protein_coding The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by promoting the exchange of RAB35-bound GDP for GTP. This gene may play a role in linking RAB35 activation with the clathrin machinery. [provided by RefSeq, May 2017]. 79958 GO:0043231, GO:0030136, GO:0005829, GO:0005829, GO:0005829, GO:0005813, GO:0005654, intracellular membrane-bounded organelle, clathrin-coated vesicle, cytosol, cytosol, cytosol, centrosome, nucleoplasm, GO:1901981, GO:0005515, GO:0005085, GO:0005085, phosphatidylinositol phosphate binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0032456, GO:0006897, endocytic recycling, endocytosis, 1056 1245 1597 933 1286 1441 998 873 1047 ENSG00000205745 chr7 36079084 36085736 + AC083864.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000205746 chr16 18334400 18352476 - AC126755.1 transcribed_unprocessed_pseudogene 1 16 6 27 5 7 2 1 8 ENSG00000205754 chr12 20962768 21092745 + SLCO1B7 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000205755 chrX 1187549 1212750 - CRLF2 protein_coding This gene encodes a member of the type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. 64109 GO:0043235, GO:0016021, GO:0009897, GO:0005886, GO:0005576, receptor complex, integral component of membrane, external side of plasma membrane, plasma membrane, extracellular region, GO:0019955, GO:0005127, GO:0004924, GO:0004923, GO:0004896, GO:0004896, GO:0004896, cytokine binding, ciliary neurotrophic factor receptor binding, oncostatin-M receptor activity, leukemia inhibitory factor receptor activity, cytokine receptor activity, cytokine receptor activity, cytokine receptor activity, GO:1904894, GO:0048861, GO:0038165, GO:0038111, GO:0033005, GO:0032754, GO:0019221, GO:0019221, GO:0008284, GO:0008284, positive regulation of receptor signaling pathway via STAT, leukemia inhibitory factor signaling pathway, oncostatin-M-mediated signaling pathway, interleukin-7-mediated signaling pathway, positive regulation of mast cell activation, positive regulation of interleukin-5 production, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, positive regulation of cell population proliferation, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000205758 chr21 33589341 33643926 - CRYZL1 protein_coding This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]. 9946 GO:0005829, cytosol, GO:0050661, GO:0003960, NADP binding, NADPH:quinone reductase activity, GO:1901661, GO:0055114, quinone metabolic process, oxidation-reduction process, 66 63 64 89 63 74 106 61 45 ENSG00000205763 chr7 32916815 32943176 - RP9P transcribed_unprocessed_pseudogene 441212 2 1 4 5 10 4 5 3 3 ENSG00000205765 chr5 41904188 41921636 + C5orf51 protein_coding 285636 GO:0005829, GO:0005654, cytosol, nucleoplasm, 227 234 293 289 282 275 273 186 229 ENSG00000205767 chr14 63567958 63568308 + AL136038.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205771 chr15 43726918 43747094 - CATSPER2P1 transcribed_unprocessed_pseudogene Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq, Oct 2008]. 440278 109 115 311 60 72 151 82 80 112 ENSG00000205777 chrX 49589496 49608536 + GAGE1 protein_coding This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]. 2543 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000205784 chr19 4890437 4902867 - ARRDC5 protein_coding 645432 GO:0005737, cytoplasm, GO:1990756, GO:0031625, ubiquitin ligase-substrate adaptor activity, ubiquitin protein ligase binding, GO:0016567, GO:0015031, protein ubiquitination, protein transport, 2 11 15 5 17 3 12 14 3 ENSG00000205786 chr19 35399511 35419385 + LINC01531 lincRNA 100128682 37 27 72 18 17 33 10 16 43 ENSG00000205790 chr19 4679282 4685948 + DPP9-AS1 antisense 100131094 59 53 55 73 63 110 66 72 80 ENSG00000205791 chr12 12355406 12357067 - LOH12CR2 lincRNA 503693 10 8 17 10 5 8 12 11 11 ENSG00000205794 chr4 40042917 40057199 - AC098591.1 transcribed_processed_pseudogene 344967 GO:0005829, GO:0005829, GO:0005654, cytosol, cytosol, nucleoplasm, GO:0102991, GO:0052689, GO:0047617, GO:0036042, GO:0016290, myristoyl-CoA hydrolase activity, carboxylic ester hydrolase activity, acyl-CoA hydrolase activity, long-chain fatty acyl-CoA binding, palmitoyl-CoA hydrolase activity, GO:1900535, GO:0006637, GO:0006637, GO:0006631, palmitic acid biosynthetic process, acyl-CoA metabolic process, acyl-CoA metabolic process, fatty acid metabolic process, 0 0 0 1 0 11 4 2 0 ENSG00000205795 chr2 10056780 10080944 - CYS1 protein_coding 192668 GO:0060170, GO:0005929, GO:0005856, GO:0005829, ciliary membrane, cilium, cytoskeleton, cytosol, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000205808 chr9 4662315 4665258 + PLPP6 protein_coding 403313 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0042577, GO:0042392, GO:0016787, GO:0005515, lipid phosphatase activity, sphingosine-1-phosphate phosphatase activity, hydrolase activity, protein binding, GO:0046839, GO:0046839, GO:0006695, phospholipid dephosphorylation, phospholipid dephosphorylation, cholesterol biosynthetic process, 20 18 39 12 22 22 19 28 19 ENSG00000205809 chr12 10426854 10442300 - KLRC2 protein_coding Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. 3822 GO:0043235, GO:0005887, GO:0005886, receptor complex, integral component of plasma membrane, plasma membrane, GO:1990405, GO:0030246, GO:0023024, GO:0005515, GO:0004888, protein antigen binding, carbohydrate binding, MHC class I protein complex binding, protein binding, transmembrane signaling receptor activity, GO:0045087, GO:0007165, GO:0006968, GO:0002228, innate immune response, signal transduction, cellular defense response, natural killer cell mediated immunity, 0 2 5 1 0 14 5 0 8 ENSG00000205810 chr12 10412312 10420595 - KLRC3 protein_coding Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 3823 GO:0016021, integral component of membrane, GO:0030246, GO:0004888, carbohydrate binding, transmembrane signaling receptor activity, GO:0006968, cellular defense response, 2 1 0 4 0 0 0 0 4 ENSG00000205822 chr13 24408157 24597676 + TPTE2P6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 5 0 0 ENSG00000205830 chr4 27207505 27218404 - AC024132.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000205832 chr16 4556490 4600714 + C16orf96 protein_coding 342346 7 4 6 8 8 12 4 6 2 ENSG00000205835 chr3 190852877 190892429 - GMNC protein_coding 647309 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, GO:0003682, protein binding, chromatin binding, GO:0060271, GO:0045786, GO:0008156, GO:0007049, GO:0006270, cilium assembly, negative regulation of cell cycle, negative regulation of DNA replication, cell cycle, DNA replication initiation, 0 0 0 0 0 0 0 0 0 ENSG00000205837 chr2 6728177 6770311 - LINC00487 lincRNA 400941 1 0 2 0 1 3 3 0 1 ENSG00000205838 chr5 34838833 34899456 + TTC23L protein_coding 153657 GO:0030496, GO:0005819, GO:0005815, GO:0005737, midbody, spindle, microtubule organizing center, cytoplasm, GO:0005515, protein binding, GO:0034976, response to endoplasmic reticulum stress, 0 0 0 6 0 0 0 0 3 ENSG00000205846 chr12 8455926 8478330 + CLEC6A protein_coding The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. 93978 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0030246, GO:0030246, GO:0005537, GO:0005509, carbohydrate binding, carbohydrate binding, mannose binding, calcium ion binding, GO:0050832, GO:0045087, GO:0043123, GO:0002250, GO:0002223, GO:0001819, defense response to fungus, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, positive regulation of cytokine production, 2 1 4 1 0 1 0 1 6 ENSG00000205847 chr2 71024127 71029893 + OR7E91P transcribed_unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79315 1 0 0 0 0 0 0 0 0 ENSG00000205853 chr22 32359906 32382052 - RFPL3S lincRNA 10737 0 0 0 1 0 1 1 0 0 ENSG00000205856 chr22 32149006 32159322 - C22orf42 protein_coding 150297 0 0 0 0 0 0 0 0 0 ENSG00000205857 chr12 7765216 7774121 + NANOGNB protein_coding 360030 GO:0000785, chromatin, GO:0003677, GO:0000981, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000205858 chr7 16526880 16581568 + LRRC72 protein_coding 100506049 0 0 0 0 0 0 0 0 0 ENSG00000205861 chr13 23888889 23897263 + PCOTH processed_transcript 542767 GO:0005737, cytoplasm, GO:0005515, protein binding, 0 0 0 0 0 2 0 0 0 ENSG00000205863 chr13 23890525 23902655 - C1QTNF9B protein_coding 387911 GO:0005581, GO:0005576, collagen trimer, extracellular region, GO:0005515, protein binding, 0 0 0 0 0 2 0 0 0 ENSG00000205864 chr11 1697195 1697755 + KRTAP5-6 protein_coding 440023 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000205865 chr11 1683269 1685629 - FAM99B antisense 100132464 0 0 0 0 0 0 0 0 0 ENSG00000205866 chr11 1665597 1667856 + FAM99A lincRNA 387742 0 0 0 0 0 0 0 0 0 ENSG00000205867 chr11 1597177 1598294 - KRTAP5-2 protein_coding 440021 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000205869 chr11 1584342 1585283 - KRTAP5-1 protein_coding 387264 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000205871 chr15 43115702 43116493 - RPS3AP47 processed_pseudogene 6 1 5 12 5 5 6 3 8 ENSG00000205879 chr8 12172761 12175771 - FAM90A2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205882 chr8 11993174 11996312 - DEFB134 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]. 613211 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000205883 chr8 11982321 11984590 + DEFB135 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]. 613209 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000205884 chr8 11973937 11974599 - DEFB136 protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]. 613210 GO:0005576, extracellular region, GO:0042742, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000205885 chr12 7108052 7122501 + C1RL-AS1 antisense 283314 358 321 564 174 275 295 175 201 249 ENSG00000205890 chr16 3032481 3039133 + AC108134.1 antisense 100128770 83 111 171 37 108 121 52 72 118 ENSG00000205897 chr7 6866658 6867672 - OR7E136P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205898 chr7 125159974 125160547 - AC019155.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205899 chr17 1270559 1271460 + BHLHA9 protein_coding This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]. 727857 GO:0005737, GO:0000785, GO:0000785, cytoplasm, chromatin, chromatin, GO:0046982, GO:0005515, GO:0000981, GO:0000981, GO:0000977, protein heterodimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0032502, GO:0007275, GO:0006357, developmental process, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000205903 chr7 6637322 6656432 + ZNF316 protein_coding 100131017 GO:0005634, nucleus, GO:0046872, GO:0043565, GO:0000981, metal ion binding, sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 1183 1251 1729 1143 936 1350 1693 1039 1177 ENSG00000205913 chr16 2737076 2752600 - SRRM2-AS1 antisense 100128788 2 9 4 11 5 22 2 3 5 ENSG00000205916 chrY 24833843 24907040 + DAZ4 protein_coding This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011]. 57135 GO:0032991, GO:0005737, GO:0005634, protein-containing complex, cytoplasm, nucleus, GO:0008494, GO:0005515, GO:0003730, translation activator activity, protein binding, mRNA 3'-UTR binding, GO:0070935, GO:0045948, GO:0030154, GO:0007283, GO:0007275, 3'-UTR-mediated mRNA stabilization, positive regulation of translational initiation, cell differentiation, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000205918 chr16 2616121 2643296 - PDPK2P transcribed_unprocessed_pseudogene 30 9 15 24 16 28 41 23 31 ENSG00000205922 chr19 1752373 1780988 + ONECUT3 protein_coding 390874 GO:0005667, GO:0005634, GO:0000785, transcription regulator complex, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 2 1 0 0 0 0 0 0 ENSG00000205923 chr16 2530035 2531417 - CEMP1 protein_coding 752014 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0046848, GO:0005515, hydroxyapatite binding, protein binding, GO:0042476, GO:0031214, GO:0030154, GO:0008283, odontogenesis, biomineral tissue development, cell differentiation, cell population proliferation, 112 202 184 881 692 682 902 563 422 ENSG00000205927 chr21 33025845 33029196 + OLIG2 protein_coding This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]. 10215 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:1990837, GO:0071837, GO:0046983, GO:0042802, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, HMG box domain binding, protein dimerization activity, identical protein binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048714, GO:0048663, GO:0045665, GO:0042552, GO:0030182, GO:0021794, GO:0021530, GO:0021522, GO:0006357, GO:0000122, positive regulation of oligodendrocyte differentiation, neuron fate commitment, negative regulation of neuron differentiation, myelination, neuron differentiation, thalamus development, spinal cord oligodendrocyte cell fate specification, spinal cord motor neuron differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 20 44 117 7 2 2 0 13 1 ENSG00000205929 chr21 32793564 32813743 - C21orf62 protein_coding 56245 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000205930 chr21 32772100 32893735 + C21orf62-AS1 antisense 0 0 1 0 3 0 0 0 0 ENSG00000205936 chrY 23379484 23392697 + PPP1R12BP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205937 chr16 2253116 2268412 - RNPS1 protein_coding This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. 10921 GO:0061574, GO:0061574, GO:0035145, GO:0016607, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005654, GO:0005654, GO:0005634, ASAP complex, ASAP complex, exon-exon junction complex, nuclear speck, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleoplasm, nucleoplasm, nucleus, GO:0005515, GO:0003730, GO:0003723, GO:0003723, protein binding, mRNA 3'-UTR binding, RNA binding, RNA binding, GO:0048025, GO:0043065, GO:0031124, GO:0006406, GO:0006405, GO:0006351, GO:0000398, GO:0000398, GO:0000381, GO:0000381, GO:0000184, GO:0000184, GO:0000184, negative regulation of mRNA splicing, via spliceosome, positive regulation of apoptotic process, mRNA 3'-end processing, mRNA export from nucleus, RNA export from nucleus, transcription, DNA-templated, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 525 535 685 497 513 666 430 403 491 ENSG00000205940 chr4 13333414 13338657 + HSP90AB2P transcribed_processed_pseudogene 0 0 2 5 0 0 1 2 0 ENSG00000205944 chrY 23219434 23291356 + DAZ2 protein_coding This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 57055 GO:0032991, GO:0005737, GO:0005634, protein-containing complex, cytoplasm, nucleus, GO:0008494, GO:0005515, GO:0003730, GO:0003723, translation activator activity, protein binding, mRNA 3'-UTR binding, RNA binding, GO:0070935, GO:0045948, GO:0030154, GO:0007338, GO:0007283, GO:0007275, 3'-UTR-mediated mRNA stabilization, positive regulation of translational initiation, cell differentiation, single fertilization, spermatogenesis, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000205946 chr4 9367874 9369070 + USP17L6P unprocessed_pseudogene 391622 GO:0005829, GO:0005737, GO:0005634, GO:0005634, cytosol, cytoplasm, nucleus, nucleus, GO:0005540, GO:0004843, GO:0004843, GO:0004197, GO:0003723, hyaluronic acid binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, RNA binding, GO:1904035, GO:0071947, GO:0042981, GO:0016579, regulation of epithelial cell apoptotic process, protein deubiquitination involved in ubiquitin-dependent protein catabolic process, regulation of apoptotic process, protein deubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000205955 chr3 184115352 184117898 + HSP90AA5P transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 1 ENSG00000205959 chr4 8482270 8512610 + AC105345.1 lincRNA 1 1 3 1 6 6 3 1 4 ENSG00000205971 chr7 1692810 1694357 - AC074389.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000205976 chr5 7299774 7306592 - AC091951.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000205978 chr14 24398786 24419288 + NYNRIN protein_coding 57523 GO:0036464, GO:0016021, GO:0005634, GO:0005575, cytoplasmic ribonucleoprotein granule, integral component of membrane, nucleus, cellular_component, GO:0004521, GO:0003729, GO:0003674, endoribonuclease activity, mRNA binding, molecular_function, GO:0090502, GO:0015074, GO:0008150, RNA phosphodiester bond hydrolysis, endonucleolytic, DNA integration, biological_process, 0 0 0 0 0 0 0 2 0 ENSG00000205981 chr3 180983709 180989774 - DNAJC19 protein_coding The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]. 131118 GO:0099617, GO:0098800, GO:0032991, GO:0016021, GO:0005743, GO:0005739, GO:0001405, matrix side of mitochondrial inner membrane, inner mitochondrial membrane protein complex, protein-containing complex, integral component of membrane, mitochondrial inner membrane, mitochondrion, PAM complex, Tim23 associated import motor, GO:0005515, GO:0001671, protein binding, ATPase activator activity, GO:1900208, GO:0048806, GO:0032781, GO:0030150, GO:0007601, GO:0006626, GO:0006457, regulation of cardiolipin metabolic process, genitalia development, positive regulation of ATPase activity, protein import into mitochondrial matrix, visual perception, protein targeting to mitochondrion, protein folding, 13 19 24 29 24 31 32 19 23 ENSG00000205989 chr8 7990415 7997521 - DEFB109C unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206013 chr11 298200 299526 - IFITM5 protein_coding This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]. 387733 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0060349, GO:0060349, GO:0030500, GO:0030282, GO:0030282, GO:0001701, bone morphogenesis, bone morphogenesis, regulation of bone mineralization, bone mineralization, bone mineralization, in utero embryonic development, 17 6 20 46 14 34 35 20 41 ENSG00000206014 chr8 11928597 11933203 - OR7E161P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206026 chr18 75409476 75427703 - SMIM21 protein_coding 284274 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 2 0 0 0 0 0 ENSG00000206028 chr22 26667693 26672654 - Z99774.1 lincRNA 65 119 237 154 61 257 109 45 190 ENSG00000206034 chr8 7312846 7319951 + DEFB109B unprocessed_pseudogene 641517 GO:0005615, extracellular space, GO:0042056, GO:0031731, chemoattractant activity, CCR6 chemokine receptor binding, GO:0060326, GO:0050918, GO:0042742, cell chemotaxis, positive chemotaxis, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000206042 chr8 7038571 7039439 - DEFA7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206043 chr18 74315813 74359187 + C18orf63 protein_coding 644041 0 0 0 0 0 0 0 0 0 ENSG00000206047 chr8 6977649 6980080 - DEFA1 protein_coding Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014]. 1667 GO:0070062, GO:0062023, GO:0062023, GO:0035578, GO:0005796, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, azurophil granule lumen, Golgi lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0005515, protein binding, GO:0071222, GO:0061844, GO:0061844, GO:0061844, GO:0061844, GO:0051873, GO:0051673, GO:0051607, GO:0050832, GO:0050830, GO:0050830, GO:0050829, GO:0044657, GO:0043312, GO:0042832, GO:0031640, GO:0030520, GO:0019731, GO:0019731, GO:0019730, GO:0010818, GO:0006955, GO:0006935, GO:0002227, GO:0002227, cellular response to lipopolysaccharide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, killing by host of symbiont cells, membrane disruption in other organism, defense response to virus, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, pore formation in membrane of other organism during symbiotic interaction, neutrophil degranulation, defense response to protozoan, killing of cells of other organism, intracellular estrogen receptor signaling pathway, antibacterial humoral response, antibacterial humoral response, antimicrobial humoral response, T cell chemotaxis, immune response, chemotaxis, innate immune response in mucosa, innate immune response in mucosa, 2 0 7 3 11 14 1 1 27 ENSG00000206052 chr18 69401055 69849087 + DOK6 protein_coding DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]. 220164 GO:0005829, cytosol, GO:0005515, protein binding, GO:0007411, axon guidance, 2 2 10 5 1 12 5 0 17 ENSG00000206053 chr16 1678256 1702280 + JPT2 protein_coding 90861 GO:0005886, GO:0005829, GO:0005634, plasma membrane, cytosol, nucleus, 16 30 46 34 20 77 34 37 31 ENSG00000206062 chrX 91307781 91308878 + AL121823.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000206066 chr22 25318256 25320080 + IGLL3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206069 chr22 24934954 24946695 - TMEM211 protein_coding 255349 GO:0016021, GO:0016020, integral component of membrane, membrane, 0 0 0 0 0 0 0 0 0 ENSG00000206072 chr18 63647579 63726432 + SERPINB11 protein_coding 89778 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000206073 chr18 63637259 63644298 - SERPINB4 protein_coding The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]. 6318 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0019899, GO:0004867, GO:0004867, GO:0004867, GO:0002020, enzyme binding, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, serine-type endopeptidase inhibitor activity, protease binding, GO:0042270, GO:0030162, GO:0010951, GO:0010466, protection from natural killer cell mediated cytotoxicity, regulation of proteolysis, negative regulation of endopeptidase activity, negative regulation of peptidase activity, 0 0 0 0 0 0 0 0 0 ENSG00000206075 chr18 63476761 63505085 + SERPINB5 protein_coding 5268 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0060512, GO:0050678, GO:0030198, GO:0010951, GO:0002009, prostate gland morphogenesis, regulation of epithelial cell proliferation, extracellular matrix organization, negative regulation of endopeptidase activity, morphogenesis of an epithelium, 0 0 0 0 0 0 0 0 0 ENSG00000206077 chr5 710360 766952 - ZDHHC11B protein_coding 653082 GO:0016021, GO:0005794, GO:0005783, integral component of membrane, Golgi apparatus, endoplasmic reticulum, GO:0019706, protein-cysteine S-palmitoyltransferase activity, GO:0018230, GO:0006612, peptidyl-L-cysteine S-palmitoylation, protein targeting to membrane, 2 8 5 11 7 8 6 3 9 ENSG00000206090 chr22 23939998 23942798 + AP000350.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206102 chr21 31038159 31038476 - KRTAP19-8 protein_coding 728299 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000206104 chr21 30642864 30643136 + KRTAP20-3 protein_coding 337985 GO:0005882, intermediate filament, 0 0 0 0 0 0 0 0 0 ENSG00000206105 chr21 30620627 30620850 + KRTAP20-4 protein_coding 100151643 GO:0005882, intermediate filament, 0 0 0 0 0 0 0 0 0 ENSG00000206106 chr21 30590105 30590397 - KRTAP22-2 protein_coding 100288287 GO:0005882, intermediate filament, 0 0 0 0 0 0 0 0 0 ENSG00000206107 chr21 30337013 30337694 - KRTAP27-1 protein_coding 643812 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000206113 chr4 2418974 2462942 + CFAP99 protein_coding 402160 GO:0031514, motile cilium, 4 8 2 2 7 8 2 6 2 ENSG00000206120 chr3 168249522 168830599 + EGFEM1P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206127 chr15 32445106 32455634 - GOLGA8O protein_coding 728047 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0005515, protein binding, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 1 12 7 1 11 4 7 5 2 ENSG00000206129 chr18 56003613 56191262 - AC006305.1 lincRNA 642484 0 0 0 0 0 0 0 0 0 ENSG00000206140 chr22 21466423 21471269 + TMEM191C protein_coding 645426 GO:0016021, integral component of membrane, 8 8 5 4 2 6 3 5 3 ENSG00000206142 chr22 21300990 21325042 - AP000552.1 lincRNA 100996335 0 0 0 0 0 0 0 0 0 ENSG00000206144 chr8 53537060 53540300 + MAPK6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206145 chr22 21035243 21045017 - P2RX6P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206147 chr9 6639139 6639604 + RPL23AP57 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206149 chr15 28589492 28685264 + HERC2P9 transcribed_unprocessed_pseudogene 440248 1 4 3 0 4 0 4 0 0 ENSG00000206150 chr14 21032820 21034785 - RNASE13 protein_coding 440163 GO:0005576, extracellular region, GO:0004540, GO:0003676, ribonuclease activity, nucleic acid binding, GO:0090501, RNA phosphodiester bond hydrolysis, 0 0 1 1 1 0 0 1 0 ENSG00000206159 chrY 12354416 12420456 - GYG2P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206168 chr16 231134 231472 + Z69890.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000206172 chr16 176680 177522 + HBA1 protein_coding The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]. 3039 GO:0072562, GO:0071682, GO:0070062, GO:0031838, GO:0031838, GO:0022627, GO:0016020, GO:0005833, GO:0005833, GO:0005833, GO:0005829, GO:0005615, GO:0005576, blood microparticle, endocytic vesicle lumen, extracellular exosome, haptoglobin-hemoglobin complex, haptoglobin-hemoglobin complex, cytosolic small ribosomal subunit, membrane, hemoglobin complex, hemoglobin complex, hemoglobin complex, cytosol, extracellular space, extracellular region, GO:0043177, GO:0031720, GO:0031720, GO:0020037, GO:0019825, GO:0005515, GO:0005506, GO:0005344, GO:0004601, GO:0004601, organic acid binding, haptoglobin binding, haptoglobin binding, heme binding, oxygen binding, protein binding, iron ion binding, oxygen carrier activity, peroxidase activity, peroxidase activity, GO:0098869, GO:0042744, GO:0042744, GO:0042542, GO:0015701, GO:0015671, GO:0010942, GO:0006898, cellular oxidant detoxification, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, response to hydrogen peroxide, bicarbonate transport, oxygen transport, positive regulation of cell death, receptor-mediated endocytosis, 29 8 8 735 23 40 161 6 37 ENSG00000206177 chr16 153892 166768 + HBM protein_coding The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]. 3042 GO:0031838, GO:0005833, haptoglobin-hemoglobin complex, hemoglobin complex, GO:0046872, GO:0043177, GO:0031720, GO:0020037, GO:0019825, GO:0005515, GO:0005344, GO:0004601, metal ion binding, organic acid binding, haptoglobin binding, heme binding, oxygen binding, protein binding, oxygen carrier activity, peroxidase activity, GO:0098869, GO:0042744, GO:0015671, cellular oxidant detoxification, hydrogen peroxide catabolic process, oxygen transport, 2 0 0 8 0 0 1 0 0 ENSG00000206178 chr16 163122 165156 + HBZP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206181 chr18 47032572 47035621 - ELOA2 protein_coding This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex acts to increase the rate of RNA chain elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites along the DNA template. Whereas a related protein with similar function, elongin A, is ubiquitously expressed, the encoded protein is specifically expressed in the testis, suggesting it may have a role in spermatogenesis. [provided by RefSeq, Jul 2008]. 51224 GO:0070449, GO:0005654, elongin complex, nucleoplasm, GO:0005515, protein binding, GO:0032784, GO:0006368, GO:0006366, regulation of DNA-templated transcription, elongation, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000206187 chr15 25902360 26053120 + LINC02346 lincRNA 100128714 0 0 0 0 0 0 0 0 0 ENSG00000206190 chr15 25677273 25865172 - ATP10A protein_coding The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]. 57194 GO:0016021, GO:0005886, GO:0005886, GO:0005789, GO:0005783, integral component of membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0140326, GO:0140326, GO:0005524, GO:0005515, GO:0000287, ATPase-coupled intramembrane lipid transporter activity, ATPase-coupled intramembrane lipid transporter activity, ATP binding, protein binding, magnesium ion binding, GO:0045332, GO:0045332, GO:0034220, GO:0008360, phospholipid translocation, phospholipid translocation, ion transmembrane transport, regulation of cell shape, 30 21 44 77 20 88 81 14 44 ENSG00000206192 chr13 18816718 18871967 - ANKRD20A9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206195 chr22 15784959 15829984 + DUXAP8 processed_transcript Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]. 503637 0 0 0 0 0 0 0 0 0 ENSG00000206199 chr3 149761100 149968385 - ANKUB1 protein_coding 389161 463 509 515 100 236 167 125 258 158 ENSG00000206203 chr22 19130808 19132623 + TSSK2 protein_coding TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]. 23617 GO:0005814, GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0001669, centriole, cytoplasm, cytoplasm, nucleus, nucleus, acrosomal vesicle, GO:0106311, GO:0106310, GO:0044877, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0000287, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein-containing complex binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, magnesium ion binding, GO:0046777, GO:0035556, GO:0018105, GO:0007286, GO:0007275, GO:0006468, GO:0006468, protein autophosphorylation, intracellular signal transduction, peptidyl-serine phosphorylation, spermatid development, multicellular organism development, protein phosphorylation, protein phosphorylation, 39 45 23 55 89 33 53 55 64 ENSG00000206228 chr8 82291624 82292379 - HNRNPA1P4 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000206249 chr20 38288331 38326536 - AL359555.1 antisense 0 1 5 0 1 1 1 1 6 ENSG00000206260 chr3 139005468 139006268 - PRR23A protein_coding 729627 0 0 0 0 0 0 0 0 0 ENSG00000206262 chr3 138947234 138953451 + FOXL2NB protein_coding 401089 GO:0001650, fibrillar center, 0 0 0 0 0 0 0 0 0 ENSG00000206337 chr6 31400702 31477506 + HCP5 sense_overlapping 10866 9 132 9 18 2 6 14 1 7 ENSG00000206341 chr6 29887752 29890482 + HLA-H unprocessed_pseudogene 116 65 96 113 130 94 108 140 64 ENSG00000206344 chr6 31197760 31203968 + HCG27 lincRNA 253018 93 8 93 7 1 16 16 2 42 ENSG00000206356 chr5 99522311 99525462 - AC114324.1 processed_pseudogene 100652833 0 0 0 0 0 0 0 0 0 ENSG00000206384 chr3 130560334 130678155 + COL6A6 protein_coding This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]. 131873 GO:0062023, GO:0031012, GO:0005581, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, collagen trimer, extracellular region, GO:0030020, extracellular matrix structural constituent conferring tensile strength, GO:0007155, cell adhesion, 4 0 0 0 1 0 1 2 0 ENSG00000206417 chr3 129315392 129326225 + H1FX-AS1 antisense 161 220 358 304 203 285 198 225 299 ENSG00000206418 chr18 8609437 8639382 + RAB12 protein_coding 201475 GO:0055038, GO:0055038, GO:0055037, GO:0045335, GO:0032593, GO:0008021, GO:0005886, GO:0005829, GO:0005794, GO:0005776, GO:0005768, GO:0005765, GO:0005764, GO:0000139, recycling endosome membrane, recycling endosome membrane, recycling endosome, phagocytic vesicle, insulin-responsive compartment, synaptic vesicle, plasma membrane, cytosol, Golgi apparatus, autophagosome, endosome, lysosomal membrane, lysosome, Golgi membrane, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GDP binding, GTP binding, protein binding, GTPase activity, GO:0072659, GO:0071346, GO:0044257, GO:0032869, GO:0032482, GO:0017157, GO:0016239, GO:0009306, GO:0008333, GO:0006914, GO:0006904, protein localization to plasma membrane, cellular response to interferon-gamma, cellular protein catabolic process, cellular response to insulin stimulus, Rab protein signal transduction, regulation of exocytosis, positive regulation of macroautophagy, protein secretion, endosome to lysosome transport, autophagy, vesicle docking involved in exocytosis, 62 32 69 64 57 77 48 33 77 ENSG00000206422 chr18 7231125 7232047 + LRRC30 protein_coding 339291 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0004722, protein serine/threonine phosphatase activity, GO:0007165, GO:0006470, signal transduction, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000206432 chr18 5882072 5895955 - TMEM200C protein_coding 645369 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000206448 chr10 15154802 15155320 - PPIAP30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206474 chr6 29439306 29440977 + OR10C1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. 442194 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000206503 chr6 29941260 29945884 + HLA-A protein_coding HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]. 3105 GO:0071556, GO:0070971, GO:0070062, GO:0055038, GO:0042824, GO:0042612, GO:0031901, GO:0030670, GO:0016020, GO:0012507, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005797, GO:0005794, GO:0005789, GO:0005783, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, endoplasmic reticulum exit site, extracellular exosome, recycling endosome membrane, MHC class I peptide loading complex, MHC class I protein complex, early endosome membrane, phagocytic vesicle membrane, membrane, ER to Golgi transport vesicle membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, Golgi medial cisterna, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0062061, GO:0046977, GO:0042610, GO:0042608, GO:0042605, GO:0042605, GO:0030881, GO:0030881, GO:0030881, GO:0005515, GO:0005102, GO:0003723, TAP complex binding, TAP binding, CD8 receptor binding, T cell receptor binding, peptide antigen binding, peptide antigen binding, beta-2-microglobulin binding, beta-2-microglobulin binding, beta-2-microglobulin binding, protein binding, signaling receptor binding, RNA binding, GO:2001187, GO:2000568, GO:2000566, GO:0060337, GO:0060333, GO:0050852, GO:0050830, GO:0050776, GO:0042590, GO:0042270, GO:0042270, GO:0036037, GO:0032729, GO:0019885, GO:0019731, GO:0016567, GO:0016045, GO:0016032, GO:0006955, GO:0006955, GO:0002726, GO:0002486, GO:0002485, GO:0002480, GO:0002479, GO:0002474, GO:0002419, GO:0001916, GO:0001913, positive regulation of CD8-positive, alpha-beta T cell activation, positive regulation of memory T cell activation, positive regulation of CD8-positive, alpha-beta T cell proliferation, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, T cell receptor signaling pathway, defense response to Gram-positive bacterium, regulation of immune response, antigen processing and presentation of exogenous peptide antigen via MHC class I, protection from natural killer cell mediated cytotoxicity, protection from natural killer cell mediated cytotoxicity, CD8-positive, alpha-beta T cell activation, positive regulation of interferon-gamma production, antigen processing and presentation of endogenous peptide antigen via MHC class I, antibacterial humoral response, protein ubiquitination, detection of bacterium, viral process, immune response, immune response, positive regulation of T cell cytokine production, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, T cell mediated cytotoxicity directed against tumor cell target, positive regulation of T cell mediated cytotoxicity, T cell mediated cytotoxicity, 10056 2824 7057 6517 1784 4780 7479 1773 4783 ENSG00000206527 chr3 123490820 123585185 - HACD2 protein_coding The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]. 201562 GO:0030176, GO:0005789, GO:0005783, integral component of endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0102345, GO:0102344, GO:0102343, GO:0102158, GO:0019899, GO:0018812, GO:0018812, GO:0005515, GO:0004725, 3-hydroxy-lignoceroyl-CoA dehydratase activity, 3-hydroxy-behenoyl-CoA dehydratase activity, 3-hydroxy-arachidoyl-CoA dehydratase activity, very-long-chain 3-hydroxyacyl-CoA dehydratase activity, enzyme binding, 3-hydroxyacyl-CoA dehydratase activity, 3-hydroxyacyl-CoA dehydratase activity, protein binding, protein tyrosine phosphatase activity, GO:0042761, GO:0042761, GO:0035338, GO:0035335, GO:0030497, GO:0030497, GO:0030148, GO:0030148, very long-chain fatty acid biosynthetic process, very long-chain fatty acid biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, peptidyl-tyrosine dephosphorylation, fatty acid elongation, fatty acid elongation, sphingolipid biosynthetic process, sphingolipid biosynthetic process, 64 82 101 89 75 135 81 48 79 ENSG00000206530 chr3 113286947 113441610 - CFAP44 protein_coding 55779 GO:0031514, GO:0005856, GO:0005737, motile cilium, cytoskeleton, cytoplasm, GO:0008233, GO:0005515, peptidase activity, protein binding, GO:0060285, GO:0060271, GO:0007288, GO:0007288, GO:0006508, GO:0000226, cilium-dependent cell motility, cilium assembly, sperm axoneme assembly, sperm axoneme assembly, proteolysis, microtubule cytoskeleton organization, 23 33 40 34 56 66 49 28 33 ENSG00000206531 chr3 112815709 112846856 - CD200R1L protein_coding 344807 GO:0016021, GO:0009897, integral component of membrane, external side of plasma membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0150077, regulation of neuroinflammatory response, 0 2 0 0 1 0 0 3 0 ENSG00000206532 chr3 110888384 110893476 - AC117402.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000206535 chr3 100401193 100456319 + LNP1 protein_coding 348801 1 0 0 0 0 7 0 1 4 ENSG00000206536 chr3 98390666 98391631 + OR5K3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403277 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000206538 chr3 86876388 86991119 - VGLL3 protein_coding 389136 GO:0005634, nucleus, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000206549 chr3 46712115 46812574 - PRSS50 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000206552 chr3 42934252 42936785 - KRBOX1-AS1 antisense 100506275 0 0 0 0 0 0 0 0 0 ENSG00000206557 chr3 32818018 32897826 + TRIM71 protein_coding The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]. 131405 GO:0000932, GO:0000932, P-body, P-body, GO:0061630, GO:0035198, GO:0035198, GO:0030371, GO:0030371, GO:0008270, GO:0005515, GO:0004842, ubiquitin protein ligase activity, miRNA binding, miRNA binding, translation repressor activity, translation repressor activity, zinc ion binding, protein binding, ubiquitin-protein transferase activity, GO:2000637, GO:2000177, GO:0072089, GO:0061158, GO:0060964, GO:0051865, GO:0043161, GO:0035278, GO:0035196, GO:0021915, GO:0017148, GO:0017148, GO:0010608, GO:0010586, GO:0008543, GO:0001843, GO:0000209, GO:0000082, positive regulation of gene silencing by miRNA, regulation of neural precursor cell proliferation, stem cell proliferation, 3'-UTR-mediated mRNA destabilization, regulation of gene silencing by miRNA, protein autoubiquitination, proteasome-mediated ubiquitin-dependent protein catabolic process, miRNA mediated inhibition of translation, production of miRNAs involved in gene silencing by miRNA, neural tube development, negative regulation of translation, negative regulation of translation, posttranscriptional regulation of gene expression, miRNA metabolic process, fibroblast growth factor receptor signaling pathway, neural tube closure, protein polyubiquitination, G1/S transition of mitotic cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000206559 chr3 28349146 28538122 + ZCWPW2 protein_coding 152098 GO:0035064, GO:0008270, GO:0005515, methylated histone binding, zinc ion binding, protein binding, 2 1 0 3 1 0 7 4 1 ENSG00000206560 chr3 15667236 15859771 - ANKRD28 protein_coding 23243 GO:0005829, GO:0005654, GO:0000139, cytosol, nucleoplasm, Golgi membrane, GO:0005515, protein binding, GO:0048208, COPII vesicle coating, 384 256 262 315 224 251 346 172 187 ENSG00000206561 chr3 15450133 15521751 - COLQ protein_coding This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 8292 GO:0062023, GO:0043083, GO:0031594, GO:0031012, GO:0030054, GO:0005886, GO:0005615, GO:0005604, GO:0005581, collagen-containing extracellular matrix, synaptic cleft, neuromuscular junction, extracellular matrix, cell junction, plasma membrane, extracellular space, basement membrane, collagen trimer, GO:0008201, GO:0005515, GO:0005201, GO:0005201, heparin binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:0090150, GO:0071340, GO:0030198, GO:0008582, GO:0001507, establishment of protein localization to membrane, skeletal muscle acetylcholine-gated channel clustering, extracellular matrix organization, regulation of synaptic growth at neuromuscular junction, acetylcholine catabolic process in synaptic cleft, 12 11 12 30 14 10 38 10 13 ENSG00000206562 chr3 15381275 15440566 - METTL6 protein_coding 131965 GO:0005575, cellular_component, GO:0052735, GO:0019899, GO:0005515, tRNA (cytosine-3-)-methyltransferase activity, enzyme binding, protein binding, GO:0030488, tRNA methylation, 20 16 52 28 22 53 22 22 25 ENSG00000206567 chr3 10006418 10011209 - AC022007.1 lincRNA 15 13 11 11 23 26 16 20 9 ENSG00000206573 chr3 9349689 9398579 - THUMPD3-AS1 antisense 440944 262 309 462 646 519 932 578 317 554 ENSG00000206579 chr8 55102389 55542054 + XKR4 protein_coding 114786 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:1902742, GO:0070782, GO:0043652, apoptotic process involved in development, phosphatidylserine exposure on apoptotic cell surface, engulfment of apoptotic cell, 0 0 0 0 0 0 0 0 0 ENSG00000206582 chr20 34526510 34526606 - RF00019 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000206583 chr11 85509938 85510044 + RNU6-1292P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206585 chr1 148038753 148038916 - RNVU1-7 snRNA 26864 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 0 2 0 0 0 ENSG00000206587 chr11 67895631 67895737 + RNU6-46P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206588 chr14 34556226 34556389 - RNU1-28P snRNA 0 0 0 2 0 0 0 1 0 ENSG00000206589 chr15 43734179 43734285 - RNU6-354P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206590 chr15 89714232 89714338 + RNU6-132P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206592 chr5 79220942 79221073 + RF00425 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206593 chr5 109014834 109014940 - RNU6-47P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206595 chr1 51382308 51382414 + RNU6-877P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206596 chr14 34546714 34546877 + RNU1-27P snRNA 0 0 0 0 0 1 0 0 0 ENSG00000206597 chr11 62665422 62665570 + SNORA57 snoRNA 692158 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206598 chr6 121354354 121354460 + RNU6-1286P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206599 chr19 49764524 49764630 - RNU6-841P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206600 chr3 195214787 195214893 + RNU6-25P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206601 chr4 108652150 108652256 + RNU6-431P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206602 chr18 49491283 49491347 - SNORD58A snoRNA 26791 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206603 chr7 56055365 56055502 + SNORA22B snoRNA 109616964 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 2 0 0 0 0 0 0 ENSG00000206604 chr3 142145454 142145555 + RNU6-425P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206605 chr10 26790540 26790646 - RNU6-946P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000206606 chr5 51167541 51167647 - RNU6-1296P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206609 chr15 25075929 25076020 + SNORD116-11 snoRNA 100033423 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206611 chr9 133349396 133349470 + SNORD24 snoRNA 26820 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206612 chr12 48656648 48656782 - SNORA2A snoRNA 677793 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 0 1 3 0 3 1 0 ENSG00000206613 chr4 168686608 168686716 - RNU6-1336P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206614 chr5 169552449 169552555 + RNU6-477P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206615 chr22 31388733 31388837 - RNU6-338P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206616 chr15 23777437 23777543 - RNU6-741P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206617 chr13 74289100 74289214 - RNY1P5 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206618 chr17 6207163 6207269 + RNU6-1264P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206620 chr1 75787072 75787150 + SNORD45C snoRNA 692085 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206621 chr15 25080142 25080233 + SNORD116-14 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206622 chrX 119787353 119787484 - SNORA69 snoRNA This gene encodes a member of the family of box ACA small nucleolar RNAs, characterized by a consensus ACA motif positioned 3 nucleotides from the 3' end of the RNAs and a double-hairpin structure. The box ACA small nucleolar RNAs may play a role in rRNA maturation. This gene is co-transcribed with the ribosomal protein L39 gene. [provided by RefSeq, Oct 2009]. 26779 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 3 0 0 1 0 ENSG00000206623 chr7 28118113 28118219 - RNU6-979P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206624 chr5 178884715 178884879 + RNU1-39P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206625 chr15 67839939 67840045 - RNU6-1 snRNA 26827 GO:0046540, GO:0005688, U4/U6 x U5 tri-snRNP complex, U6 snRNP, GO:0030621, U4 snRNA binding, GO:0000353, GO:0000244, formation of quadruple SL/U4/U5/U6 snRNP, spliceosomal tri-snRNP complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000206627 chr1 52805108 52805212 - RNU6-969P snRNA 4 4 3 3 4 8 0 1 1 ENSG00000206629 chr4 67429591 67429754 - RNU1-63P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206630 chr16 2155023 2155105 - SNORD60 snoRNA 26788 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206631 chr10 94155639 94155745 - RNU6-657P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206633 chr2 10446714 10446849 - SNORA80B snoRNA 100302743 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 1 0 3 0 0 0 0 ENSG00000206634 chr7 65755526 65755659 + SNORA22 snoRNA 677807 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 4 2 0 0 ENSG00000206635 chr1 151629324 151629430 + RNU6-1062P snRNA 0 4 0 1 1 0 0 0 1 ENSG00000206636 chr12 7976259 7976360 + RF00019 misc_RNA 2 3 3 0 1 0 1 0 6 ENSG00000206637 chr1 201978461 201978595 + RF00156 snoRNA 109616993 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206638 chr11 72869544 72869650 - RNU6-672P snRNA 0 0 0 2 0 0 0 0 1 ENSG00000206639 chrX 21872707 21872808 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206640 chr1 185257911 185258015 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206641 chr15 53764204 53764310 + RNU6-449P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206644 chr3 196393710 196393812 - RNU6-1279P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000206645 chr3 37093133 37093234 - RF00019 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000206646 chrX 68361075 68361187 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206647 chr2 10155072 10155206 - RF00410 snoRNA 0 0 2 3 0 0 0 0 0 ENSG00000206649 chr8 80316939 80317069 - RF00401 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206650 chr12 68627234 68627375 - SNORA70G snoRNA 100379132 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 2 0 3 1 0 0 1 3 ENSG00000206651 chr1 156484098 156484210 - RF00019 misc_RNA 4 2 4 38 44 27 71 16 17 ENSG00000206652 chr1 16514122 16514285 - RNU1-1 snRNA 26871 0 0 0 0 0 0 0 0 0 ENSG00000206654 chr1 39120940 39121043 - RNU6-608P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206656 chr15 25083588 25083679 + SNORD116-17 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206658 chr9 110369592 110369698 - RNU6-1039P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206659 chr1 175022479 175022580 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206660 chr10 32056746 32056839 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206661 chr8 5128279 5128412 - RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206662 chr12 17710934 17711046 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206663 chrX 19985058 19985159 - RF00019 misc_RNA 0 3 0 0 1 0 0 1 0 ENSG00000206665 chr4 35495898 35496003 + RNU6-573P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206669 chr19 36858227 36858329 - RF00019 misc_RNA 1 2 0 0 0 0 0 0 0 ENSG00000206671 chr6 27596412 27596517 + RNU6-471P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206672 chr6 67625356 67625464 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206674 chr19 40299478 40299584 - RNU6-945P snRNA 0 0 0 0 0 4 0 0 0 ENSG00000206675 chr4 39297605 39297711 - RNU6-32P snRNA 0 0 0 0 0 0 0 0 4 ENSG00000206676 chr15 37050828 37050930 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206677 chrX 40492844 40492941 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206678 chr8 137105352 137105458 + RNU6-144P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206679 chr1 95125511 95125609 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206680 chr1 92837289 92837383 + SNORD21 snoRNA This gene encodes a small nucleolar RNA (snoRNA) that may be involved in biogenesis of the large (28S) ribosomal subunit. This gene is found within an intron of the RPL5 gene. [provided by RefSeq, Mar 2009]. 6083 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206681 chr6 165718235 165718338 - RNU6-730P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206682 chr5 31505684 31505788 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206684 chr1 172366540 172366646 + RNU6-157P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206685 chrX 47087506 47087612 + RNU6-1189P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206686 chr5 181007281 181007384 + RNU6-1036P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206687 chr18 797989 798135 - RNU1-109P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206688 chr15 25085385 25085476 + SNORD116-18 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206690 chr11 88099995 88100105 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206692 chr1 171253906 171254022 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206693 chrX 154774998 154775126 + SNORA56 snoRNA Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residue U1664 of 28S rRNA. [provided by RefSeq, Feb 2009]. 677835 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206695 chr8 125900951 125901054 + RNU6-442P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206697 chr13 73227147 73227260 + RNY1P8 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206698 chr5 97175950 97176113 - RNU1-73P snRNA 0 0 0 0 0 0 2 0 0 ENSG00000206699 chr8 99527826 99527927 + RF00019 misc_RNA 0 0 1 0 1 0 0 2 0 ENSG00000206700 chr1 48344209 48344315 + RNU6-723P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206701 chr8 84665759 84665865 - RNU6-1040P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206702 chr6 13214056 13214219 + RNU1-11P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206703 chr4 158794590 158794696 - RNU6-128P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206704 chr1 28985710 28985810 + RF00019 misc_RNA 0 0 0 2 0 6 0 0 0 ENSG00000206705 chr7 136129980 136130081 - RF00019 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000206706 chr16 16314112 16314211 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206708 chr3 39025987 39026093 + RNU6-1227P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206709 chr7 73339094 73339200 - RNU6-1080P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206710 chr20 49972106 49972212 + RNU6-147P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206711 chr4 166312935 166313034 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206712 chr3 98804978 98805084 - RNU6-26P snRNA 0 2 2 0 0 0 0 0 0 ENSG00000206713 chr17 75089862 75089974 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206714 chr5 78317036 78317137 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206715 chr6 87488445 87488552 + RNU6-444P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206716 chrX 21214637 21214743 + RNU6-133P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206717 chr6 34821445 34821542 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206718 chr2 155330421 155330527 + RNU6-546P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206719 chr8 113950886 113950998 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206721 chr3 120210320 120210421 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206722 chr4 139256657 139256760 - RNU6-1074P snRNA 0 0 0 0 0 0 2 0 0 ENSG00000206723 chrX 48724455 48724561 - RNU6-1056P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206724 chr8 124260646 124260752 + RNU6-756P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206725 chr2 229973315 229973421 + RNU6-1027P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206726 chr2 124989219 124989325 + RNU6-259P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206727 chr15 25073107 25073201 + SNORD116-9 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206728 chr3 23273807 23273910 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206729 chr7 55789368 55789474 + RNU6-1126P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206730 chr17 17578631 17578739 + RNU6-468P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206731 chr2 27642043 27642169 - RF00340 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206732 chr2 24676309 24676415 + RNU6-936P snRNA 1 2 2 1 0 1 0 0 0 ENSG00000206733 chrX 36021939 36022045 - RNU6-641P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206734 chr17 47557413 47557514 + RF00019 misc_RNA 0 3 0 0 0 0 0 0 0 ENSG00000206737 chr1 143729407 143729570 - RNVU1-18 snRNA 26863 0 0 0 0 0 0 0 0 0 ENSG00000206738 chr4 2615124 2615224 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206739 chr22 19045256 19045367 + RF00019 misc_RNA 0 8 4 11 25 14 7 20 6 ENSG00000206741 chr5 172779982 172780094 - RF00019 misc_RNA 3 1 10 2 8 11 12 8 10 ENSG00000206743 chr5 37700331 37700437 - RNU6-484P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000206744 chr5 83703448 83703543 + RNU6-620P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206745 chr6 41302466 41302572 - RNU6-643P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206746 chr18 62731226 62731332 - RNU6-142P snRNA 0 0 0 0 0 0 0 0 3 ENSG00000206747 chrX 68539443 68539549 - RNU6-245P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206749 chr12 57806154 57806260 - RNU6-1083P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206751 chr14 72853224 72853331 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206752 chrX 116850839 116850945 - RNU6-1323P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206754 chr6 132815307 132815379 + SNORD101 snoRNA 594837 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 1 6 5 0 1 6 ENSG00000206755 chr16 30710537 30710665 + SNORA30 snoRNA 677813 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 2 0 0 0 0 ENSG00000206756 chr10 74551392 74551493 + RF00019 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000206758 chr19 48793152 48793258 - RNU6-317P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206759 chr3 66293114 66293220 - RNU6-787P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000206760 chr3 39408389 39408539 + SNORA6 snoRNA 574040 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206762 chr1 205595041 205595147 + RNU6-418P snRNA 0 0 0 1 1 0 0 0 0 ENSG00000206763 chr7 92701708 92701814 - RNU6-10P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206764 chr1 182327068 182327174 + RNU6-152P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000206765 chrX 133531723 133531826 - RNU6-203P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206766 chr18 24218300 24218404 + RNU6-435P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206767 chr1 27675603 27675709 - RNU6-949P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206768 chr14 69143852 69143953 - RF00019 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000206769 chr18 61391595 61391703 + RNU6-116P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206770 chr5 72768702 72768811 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206772 chr11 112352556 112352662 - RNU6-44P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206774 chr5 80365726 80365832 - RNU6-211P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206775 chr19 3982507 3982572 - SNORD37 snoRNA 26812 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 5 7 0 0 3 0 ENSG00000206776 chr8 119388348 119388469 + RF00421 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206777 chr3 169720187 169720293 - RNU6-637P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206778 chr16 15877163 15877266 - RNU6-213P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206779 chr1 28422555 28422655 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206780 chr4 17320746 17320882 - SNORA75B snoRNA 109616994 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206781 chr15 64445130 64445243 - RF00019 misc_RNA 0 0 0 0 2 0 0 1 0 ENSG00000206782 chr4 131273242 131273348 + RNU6-224P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206784 chr9 37322259 37322371 + RF00019 misc_RNA 2 1 0 1 3 0 0 0 0 ENSG00000206785 chr7 65760052 65760186 + SNORA15B-2 snoRNA 109617022 0 0 0 0 1 0 5 0 0 ENSG00000206786 chr5 119138859 119138965 + RNU6-701P snRNA 0 0 0 0 0 0 4 0 0 ENSG00000206787 chr13 18880054 18880157 + RNU6-76P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206788 chr2 178038902 178039004 + RNU6-629P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206790 chr12 100257688 100257790 - RF00019 misc_RNA 0 0 0 0 0 3 0 0 0 ENSG00000206791 chr1 148014417 148014583 - RNU1-129P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206792 chrX 12054824 12054926 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206795 chrX 12149126 12149238 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206796 chr10 37135237 37135343 + RNU6-811P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206797 chr20 450663 450762 + RF00019 misc_RNA 0 0 0 0 1 0 0 1 0 ENSG00000206799 chr11 93730979 93731099 - SNORA32 snoRNA 692063 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206800 chr13 77623372 77623472 + RNY3P7 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206801 chr20 43796437 43796543 - RNU6-639P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206802 chr21 26190707 26190813 + RNU6-926P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206803 chr1 235915415 235915521 + RNU6-968P snRNA 0 0 3 0 0 0 0 0 0 ENSG00000206804 chr9 64880369 64880475 - RNU6-1293P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206805 chr17 48479097 48479198 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206806 chr11 40351564 40351672 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206807 chr3 20507644 20507756 - RNU6-815P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206808 chr11 33171381 33171490 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206811 chr16 1962334 1962466 - SNORA10 snoRNA 574042 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206812 chr13 75109587 75109693 + RNU6-38P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206813 chr22 41747312 41747413 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206814 chr5 17117576 17117686 - RF00019 misc_RNA 0 0 0 3 4 3 4 3 2 ENSG00000206815 chr3 57548838 57548945 + RNU6-483P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206816 chr11 77691650 77691751 + RF00019 misc_RNA 0 0 0 0 0 0 2 0 1 ENSG00000206817 chr1 91261625 91261724 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206818 chr7 79912104 79912208 - RNU6-849P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206819 chr5 157809098 157809204 + RNU6-260P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206820 chr4 113420323 113420486 + RNU1-138P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206822 chr14 63621760 63621871 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206824 chr17 50386145 50386246 - RF00019 misc_RNA 1 0 1 2 1 1 0 4 0 ENSG00000206826 chrX 82001220 82001327 - RNU6-974P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206827 chr18 22647582 22647688 + RNU6-1032P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206828 chr1 149636766 149636929 + RF00003 snRNA 3 0 1 8 2 1 6 2 1 ENSG00000206832 chr1 109591534 109591640 - RNU6V snRNA 0 2 0 60 67 98 36 35 24 ENSG00000206833 chr16 57830536 57830642 - RNU6-20P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206834 chr11 93732004 93732133 - SNORA1 snoRNA 677792 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206835 chr1 232832017 232832187 - RNU1-74P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206836 chr2 197447745 197447851 + RNU6-1029P snRNA 0 0 0 0 0 0 3 0 0 ENSG00000206838 chr7 45104349 45104482 - SNORA5A snoRNA 654319 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206839 chr4 55294490 55294598 + RNU6-746P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206840 chr10 37994863 37994975 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206841 chr22 50691260 50691363 - RNU6-409P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206842 chr10 22787393 22787499 + RNU6-413P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206843 chr7 139315291 139315394 - RNU6-206P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206844 chrX 9874601 9874701 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206845 chr5 164935162 164935268 - RNU6-209P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206846 chr15 30673750 30673843 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206847 chr11 129030459 129030572 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206848 chr6 42664162 42664268 + RNU6-890P snRNA 7 19 10 1 4 0 4 4 3 ENSG00000206849 chr15 31928303 31928434 + RF00425 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206850 chr12 130906838 130906949 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206852 chr8 41298163 41298265 + RNU6-895P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206853 chr8 59137372 59137502 - RF00432 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206854 chr13 60789560 60789661 + RNY3P5 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206855 chr10 68911653 68911759 - RNU6-571P snRNA 0 0 0 0 0 0 0 0 4 ENSG00000206857 chr6 120526294 120526400 - RNU6-214P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206858 chr11 10725903 10726004 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206859 chr17 17170083 17170189 + RNU6-767P snRNA 0 0 0 0 2 7 0 0 0 ENSG00000206862 chrX 118569405 118569515 - RF00019 misc_RNA 0 0 0 2 0 0 0 1 0 ENSG00000206863 chr18 24124170 24124285 - RNU5A-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206864 chrX 105676071 105676177 - RNU6-207P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206865 chr18 56753226 56753326 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206866 chr2 176929985 176930090 - RNU6-187P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206867 chr8 41032892 41032998 + RNU6-356P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206869 chr2 164687643 164687777 - SNORA70F snoRNA 100337591 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206870 chr14 60974327 60974435 + RNU6-398P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206871 chr8 36309584 36309690 - RNU6-533P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206875 chr6 42018408 42018514 - RNU6-761P snRNA 0 0 0 0 0 0 0 1 0 ENSG00000206877 chr7 24537332 24537438 + RNU6-1103P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206878 chr1 228652436 228652560 + RF00432 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206880 chr1 168263375 168263481 - RNU6-1310P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000206881 chr6 17619533 17619634 + RNU6-190P snRNA 1 4 1 1 5 3 2 3 6 ENSG00000206882 chr2 22338886 22339003 - RNA5SP87 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000206885 chr2 231455800 231455936 - SNORA75 snoRNA 654321 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 3 8 13 6 10 7 ENSG00000206886 chr6 81764024 81764156 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206887 chr1 224305380 224305483 + RNU6-1008P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206888 chr1 27325219 27325325 + RNU6-48P snRNA 3 1 0 0 2 4 0 0 3 ENSG00000206889 chr3 117544205 117544311 + RNU6-1200P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206891 chr3 77811741 77811844 - RNU6-217P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206892 chr3 196784980 196785086 - RNU6-42P snRNA 4 0 0 0 0 0 0 0 0 ENSG00000206895 chr7 4811188 4811289 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206896 chrX 42174279 42174385 - RNU6-1124P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206897 chr12 123616708 123616840 + SNORA9B snoRNA 109616977 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 0 0 3 3 3 3 0 0 ENSG00000206898 chr2 10296047 10296180 - RF00432 snoRNA 0 1 0 2 4 0 2 0 0 ENSG00000206899 chr12 97721716 97721822 + RNU6-36P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206900 chrX 132580117 132580223 - RNU6-98P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206901 chr2 139511424 139511555 + RF00139 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206903 chr15 65285461 65285591 - SNORA24B snoRNA 109617003 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206905 chr1 180519016 180519119 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206906 chr14 18343038 18343144 + RNU6-458P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206907 chr9 111839828 111839934 + RNU6-1013P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000206908 chr6 53219261 53219424 + RNU1-136P snRNA 0 0 0 0 0 0 0 1 2 ENSG00000206909 chr5 171366118 171366252 + SNORA70J snoRNA 109616973 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206910 chr6 159785594 159785733 - SNORA29 snoRNA 677812 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206911 chr11 93827622 93827734 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206912 chr5 23299155 23299262 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206913 chr11 74252414 74252552 - RF00409 snoRNA 0 0 3 2 4 1 1 2 1 ENSG00000206914 chr12 122768099 122768200 + RF00019 misc_RNA 1 0 3 0 0 0 3 3 6 ENSG00000206915 chr2 49233794 49233899 - RNU6-439P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206917 chr17 58677574 58677737 - RNU1-52P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206918 chr3 57512450 57512555 + RNU6-1181P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206920 chr13 51586424 51586532 - RNY1P6 misc_RNA 2 1 0 0 0 0 0 0 0 ENSG00000206921 chr1 161401289 161401395 + RNU6-481P snRNA 0 3 0 5 10 0 1 2 3 ENSG00000206922 chr13 72706017 72706123 - RNU6-80P snRNA 0 0 0 0 0 4 0 0 2 ENSG00000206923 chr9 110903337 110903445 + RNU6-432P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206924 chr14 75020761 75020867 + RNU6-689P snRNA 0 0 0 0 0 0 0 0 2 ENSG00000206925 chr19 40342329 40342441 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206926 chr3 15433110 15433216 - RNU6-1024P snRNA 1 2 0 1 1 8 2 3 1 ENSG00000206927 chr16 18397937 18398036 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206929 chr12 101446825 101446932 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206931 chr1 150701866 150701972 + RNU6-1042P snRNA 0 1 0 0 0 0 0 1 0 ENSG00000206932 chr3 181231737 181231843 + RNU6-4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206935 chr1 23162704 23162810 + RNU6-514P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206936 chrX 49082028 49082165 + RNU4-52P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206937 chr2 61417244 61417378 - SNORA70B snoRNA 100124537 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206938 chr7 156872078 156872218 + RNU4-31P snRNA 0 0 1 0 1 1 2 3 4 ENSG00000206939 chr3 70808350 70808452 + RNU6-281P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206941 chr11 75400391 75400538 + SNORD15A snoRNA 6079 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206944 chr18 48169784 48169890 - RNU6-708P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206947 chr7 39329003 39329134 - SNORA20B snoRNA 109616963 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206948 chrX 154768528 154768659 + SNORA36A snoRNA Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residues U105 and U1244 of 18S rRNA. [provided by RefSeq, Feb 2009]. 677817 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206949 chr8 66501205 66501311 - RNU6-1324P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206950 chr8 14332555 14332663 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206951 chr2 32945339 32945451 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206952 chr16 58559796 58559929 - SNORA50A snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206954 chr17 48088678 48088784 - RNU6-1201P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206957 chr15 44697333 44697430 - RF00019 misc_RNA 1 0 0 0 0 1 0 0 0 ENSG00000206958 chr5 88382772 88382907 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206959 chr20 53544615 53544725 + RF00019 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000206960 chr6 14646535 14646638 + RNU6-793P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206961 chr2 169727872 169728003 + RF00432 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206962 chr13 41905118 41905224 + RNU6-74P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206963 chr2 126702839 126702942 - RNU6-675P snRNA 0 0 1 0 0 4 2 0 4 ENSG00000206964 chr2 55286018 55286128 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206965 chr2 174557966 174558072 - RNU6-5P snRNA 8 14 15 5 11 6 3 5 17 ENSG00000206967 chr11 108229503 108229604 - RF00019 misc_RNA 0 2 0 0 0 0 1 0 0 ENSG00000206969 chr14 102865856 102865963 + RNU6-1316P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206970 chr2 203782037 203782143 + RNU6-474P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206972 chr15 30254402 30254508 - RNU6-17P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206973 chr2 61605616 61605722 + RNU6-1145P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206974 chr6 108292766 108292869 + RNU6-1144P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206975 chr8 56917084 56917190 + RNU6-13P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206976 chr11 3922567 3922703 + RF00409 snoRNA 0 1 0 0 0 0 0 0 0 ENSG00000206977 chr6 41832854 41832993 + RF00393 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206978 chr4 159064297 159064398 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206979 chrX 136879199 136879271 - SNORD61 snoRNA Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in an intron of the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq, Sep 2009]. 26787 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000206980 chr1 151747597 151747700 - RNU6-662P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206981 chr1 31497577 31497683 - RNU6-40P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206982 chr6 128584390 128584491 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206983 chrX 37870109 37870215 + RNU6-49P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206985 chr2 39082589 39082692 + RNU6-198P snRNA 0 0 0 0 0 0 0 0 1 ENSG00000206987 chr15 32426288 32426420 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000206989 chr5 138561043 138561110 - SNORD63 snoRNA 26785 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 3 1 4 6 4 5 ENSG00000206990 chr1 165662585 165662687 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206991 chr15 43637632 43637738 - RNU6-610P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000206992 chr12 51987657 51987763 + RNU6-574P snRNA 3 0 2 0 1 9 0 0 3 ENSG00000206995 chr15 52162751 52162852 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 1 ENSG00000206996 chr8 13044350 13044456 + RNU6-842P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206997 chr5 96210121 96210227 - RNU6-524P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000206998 chr20 43451159 43451260 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000206999 chr1 75183045 75183147 + RNU6-622P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207000 chr9 68935873 68935979 - RNU6-820P snRNA 0 0 2 0 0 8 0 1 0 ENSG00000207001 chr15 25054210 25054304 + SNORD116-2 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207002 chr3 123814077 123814207 + RF00392 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207003 chr19 45047458 45047561 + RNU6-611P snRNA 0 5 4 6 0 6 5 0 0 ENSG00000207004 chr14 51724103 51724209 + RNU6-301P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207005 chr1 16895980 16896143 + RNU1-2 snRNA 26870 0 1 0 5 0 0 0 0 2 ENSG00000207007 chr4 70852130 70852240 + RNU6-891P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207008 chr11 2963771 2963893 - SNORA54 snoRNA 677833 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207009 chr4 1683420 1683529 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207010 chr12 12289227 12289329 - RNU6-318P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207011 chr17 30059052 30059147 - RNY4P13 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207012 chr11 72047873 72047951 - RNU6-72P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207013 chr5 86663144 86663250 - RNU6-804P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207014 chr15 25056860 25056954 + SNORD116-3 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207016 chr2 69520043 69520174 - SNORA36C snoRNA 100124535 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207019 chr18 31345362 31345467 - RNU6-167P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207020 chr5 139554900 139555001 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207021 chr17 81573490 81573602 + RF00019 misc_RNA 0 1 0 0 1 0 0 0 0 ENSG00000207022 chr1 92846059 92846182 + RF00432 snoRNA 0 0 0 0 0 0 0 1 3 ENSG00000207023 chr6 73464073 73464177 + RNU6-975P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207024 chr11 64296037 64296138 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207025 chrX 18395994 18396095 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207026 chr12 33923374 33923480 - RNU6-472P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207027 chr8 23806229 23806377 - RF00272 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207029 chr10 102591524 102591630 + RNU6-43P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207031 chr12 56645027 56645101 - SNORD59A snoRNA 26789 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 2 2 0 0 0 4 0 0 ENSG00000207032 chr9 34389943 34390051 - RF00019 misc_RNA 0 1 0 0 0 0 0 1 0 ENSG00000207033 chrX 116400848 116400953 - RNU6-154P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207034 chr18 2778941 2779057 + RF00019 misc_RNA 92 121 99 51 124 108 79 83 114 ENSG00000207036 chr8 70357347 70357448 + RNY3P14 misc_RNA 0 0 0 0 1 1 0 0 0 ENSG00000207037 chr15 84938416 84938522 - RNU6-339P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207039 chr1 153785720 153785821 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207041 chrX 141118030 141118136 - RNU6-3P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207042 chr16 21642294 21642400 + RNU6-196P snRNA 25 45 34 3 0 9 20 5 1 ENSG00000207044 chr6 112196440 112196546 - RNU6-1226P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207045 chr7 96330638 96330744 + RNU6-532P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207046 chr14 37434469 37434573 - RNU6-886P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207047 chr2 206161878 206161957 + SNORD51 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207049 chr2 236153071 236153172 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207051 chr13 27255401 27255526 + SNORA27 snoRNA 619499 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207052 chr5 32309662 32309768 + RNU6-378P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207053 chr20 35928570 35928675 - RNU6-937P snRNA 0 0 0 0 0 4 0 0 0 ENSG00000207056 chr1 7219360 7219524 + RNU1-8P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207058 chr4 70703018 70703123 - RNU6-784P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207060 chr5 51055353 51055459 - RNU6-480P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207061 chr7 156186122 156186223 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207062 chr7 65070538 65070672 + SNORA15B-1 snoRNA 109616962 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 6 2 0 0 0 0 0 0 ENSG00000207063 chr15 25051477 25051571 + SNORD116-1 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207065 chr4 81334303 81334418 + RNU5A-2P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207067 chr8 98042086 98042217 - SNORA72 snoRNA 26775 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 3 6 20 5 0 6 7 7 ENSG00000207068 chr10 105534659 105534765 + RNU6-463P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207069 chr2 25008845 25008946 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207071 chr10 45188790 45188896 - RNU6-1207P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207072 chr18 68858934 68859040 + RNU6-39P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207073 chr19 49566672 49566772 + RF00019 misc_RNA 0 0 0 0 0 0 3 0 0 ENSG00000207075 chr4 37699895 37700002 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207076 chr6 43474186 43474292 + RNU6-1113P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207077 chr5 100153672 100153779 + RNU6-1119P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207080 chr1 184315658 184315765 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207081 chrX 134918310 134918416 - RNU6-616P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207082 chr1 164639565 164639671 + RNU6-171P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207083 chr16 69175671 69175777 - RNU6-22P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207084 chr3 160696929 160697060 + RF00139 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207086 chr2 9615267 9615373 + RF00019 misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000207087 chr2 43091388 43091494 - RNU6-242P snRNA 0 1 3 7 1 0 0 1 5 ENSG00000207088 chr3 129397210 129397348 - SNORA7B snoRNA 677797 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 0 0 0 0 2 0 ENSG00000207089 chr14 68735922 68736028 - RNU6-921P snRNA 0 1 1 0 0 0 0 0 0 ENSG00000207090 chr7 121194948 121195057 - RNU6-517P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207091 chr15 34314728 34314828 + RF00019 misc_RNA 1 0 0 0 3 8 3 1 2 ENSG00000207092 chr18 9250110 9250211 + RF00019 misc_RNA 0 0 2 6 0 2 5 2 3 ENSG00000207093 chr15 25070432 25070526 + SNORD116-8 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207094 chr7 88449092 88449231 - RF00272 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207095 chr1 27693731 27693835 + RNU6-424P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207097 chr21 13047583 13047689 + RNU6-614P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207098 chr21 32841861 32841995 - RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207099 chr12 65095749 65095855 + RNU6-166P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207100 chrX 133152754 133152892 + RF00393 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207101 chr8 41803349 41803450 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207104 chrX 54343546 54343652 + RNU6-434P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207105 chr15 48995912 48996022 - RF00019 misc_RNA 0 0 0 0 2 4 1 0 0 ENSG00000207108 chr1 185630428 185630528 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207109 chr3 53333060 53333128 - RF00212 snoRNA 109617024 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 3 ENSG00000207110 chr8 127999131 127999294 + RNU1-106P snRNA 2 0 2 1 0 5 0 2 0 ENSG00000207112 chr11 93730513 93730646 - SNORA25 snoRNA 684959 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207113 chr11 88612805 88612911 - RNU6-16P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207114 chr3 171504245 171504351 - RNU6-348P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207115 chr7 96341140 96341246 + RNU6-364P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207116 chr2 200830009 200830116 + RNU6-31P snRNA 0 0 0 0 0 2 0 0 0 ENSG00000207117 chr2 159536244 159536346 - RF00019 misc_RNA 2 4 0 1 4 0 1 5 0 ENSG00000207118 chr11 123058909 123058995 - SNORD14D snoRNA 85390 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207119 chr15 69457941 69458149 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207121 chr4 149934376 149934483 + RNU6-1230P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207122 chrX 39081180 39081285 - RNU6-591P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207123 chr17 62122320 62122421 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207124 chr10 4514952 4515057 + RNU6-163P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207127 chr17 49416744 49416850 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207128 chr8 10476223 10476329 + RNU6-729P snRNA 2 0 0 0 1 0 0 0 0 ENSG00000207129 chr5 88274258 88274376 - RNA5SP187 rRNA_pseudogene 1 0 0 0 0 0 2 0 0 ENSG00000207130 chr3 128714571 128714705 - RF00399 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207131 chr6 87826173 87826285 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207132 chr17 30344503 30344604 - RF00019 misc_RNA 0 0 0 0 3 0 1 0 0 ENSG00000207133 chr15 25067788 25067882 + SNORD116-7 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207134 chr1 155358712 155358818 - RNU6-106P snRNA 3 0 0 0 0 0 1 1 0 ENSG00000207135 chr10 27335501 27335607 - RNU6-452P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207136 chr12 50633273 50633376 + RNU6-769P snRNA 0 0 0 0 2 0 3 1 0 ENSG00000207137 chr15 25079058 25079149 + SNORD116-13 snoRNA 0 0 0 1 0 0 0 2 0 ENSG00000207138 chr8 126504763 126504869 + RNU6-869P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207139 chr1 197685640 197685740 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207142 chr12 42454720 42454821 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207144 chr1 155419397 155419500 + RNU6-1297P snRNA 0 0 0 0 2 0 0 1 0 ENSG00000207145 chr11 93733466 93733597 - SNORA18 snoRNA 677805 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207146 chrX 108676951 108677057 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207147 chr21 40513144 40513279 + RF00432 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207148 chr4 121329069 121329170 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207149 chr1 120126974 120127074 + RNU6-465P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207150 chr15 87474183 87474289 - RNU6-185P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207151 chrX 11116092 11116193 - RF00019 misc_RNA 0 0 1 0 0 0 0 0 2 ENSG00000207153 chr11 60985061 60985167 - RNU6-933P snRNA 0 0 0 0 0 0 0 0 1 ENSG00000207154 chr18 51283733 51283896 - RNU1-46P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207155 chr4 140700835 140700942 - RNY1P14 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207156 chr3 146996607 146996713 - RNU6-505P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207157 chr13 23152586 23152686 - RNY3P4 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207158 chr20 56785981 56786087 - RNU6-929P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207160 chr18 26366301 26366406 - RNU6-1289P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207161 chr2 147472133 147472243 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207162 chr15 64671263 64671369 + RNU6-549P snRNA 0 1 1 0 0 0 0 0 0 ENSG00000207163 chr3 14530982 14531088 - RNU6-905P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207164 chr14 28901236 28901347 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207165 chrX 154400281 154400415 + SNORA70 snoRNA 26778 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207166 chr19 17862588 17862720 + SNORA68 snoRNA 26780 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207167 chr16 19012157 19012263 + RNU6-1340P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207168 chr7 56060470 56060602 + SNORA15 snoRNA 677803 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207169 chr17 76337316 76337422 + RNU6-24P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207170 chr2 18583367 18583468 - RNU6-1215P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207171 chr4 168471409 168471539 + RF00432 snoRNA 10 10 26 12 9 27 14 10 26 ENSG00000207172 chr14 63630678 63630781 + RNU6-1162P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207173 chr16 58083068 58083168 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207174 chr15 25081287 25081378 + SNORD116-15 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207175 chrX 119423742 119423905 + RNU1-67P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207176 chr12 32396050 32396147 - RF00019 misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000207177 chr5 110684794 110684927 - RF00432 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207178 chr2 182873841 182873947 + RNU6-1122P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207180 chr6 71182612 71182718 + RNU6-411P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207181 chr1 235127803 235127937 - SNORA14B snoRNA Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 7. [provided by RefSeq, Oct 2008]. 677802 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207182 chr4 146580048 146580210 + RNU1-44P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207183 chr2 12411398 12411501 - RNU6-843P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207185 chr11 118593988 118594093 + RNU6-1157P snRNA 0 0 0 2 2 0 0 1 0 ENSG00000207186 chr2 241584968 241585075 + RNA5SP122 rRNA_pseudogene 0 0 0 0 4 0 0 0 0 ENSG00000207187 chr2 30187434 30187566 + SNORA10B snoRNA 109616960 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 0 0 0 0 0 0 ENSG00000207189 chr12 123348999 123349100 - RF00019 misc_RNA 0 0 0 0 0 4 0 0 3 ENSG00000207190 chr1 64028894 64029000 - RNU6-809P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207191 chr15 25062333 25062427 + SNORD116-5 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207192 chr2 4945277 4945383 + RNU6-649P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207193 chr6 16232231 16232330 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207194 chr1 50582404 50582511 + RNU6-1026P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207195 chr4 40826655 40826765 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207196 chr11 70705167 70705269 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207197 chr15 25077051 25077142 + SNORD116-12 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207198 chr4 41113942 41114045 + RNU6-1195P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207199 chr8 39018615 39018683 - RF00212 snoRNA 109616979 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 0 0 2 0 0 0 0 ENSG00000207200 chr11 63970470 63970576 + RNU6-45P snRNA 0 0 0 0 0 0 4 0 0 ENSG00000207201 chr8 24076997 24077158 - RNU1-148P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207202 chrX 10582817 10582919 + RNU6-800P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207203 chr13 36267168 36267274 + RNU6-71P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207204 chr7 98794718 98794824 - RNU6-393P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207205 chr1 144412576 144412740 + RNVU1-15 snRNA 101954267 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000207206 chr9 81725243 81725349 - RNU6-1035P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207207 chr2 85434507 85434619 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207208 chr14 101803227 101803331 + RNU6-790P snRNA 0 2 0 2 1 0 0 1 0 ENSG00000207209 chr1 147420199 147420300 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207210 chr5 173052452 173052555 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207214 chr7 124647719 124647822 + RNU6-102P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207215 chr8 97358265 97358478 + SNORD3H snoRNA 109617016 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207217 chr7 6016877 6017011 + SNORA80D snoRNA 109616999 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207218 chr2 41857271 41857372 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207220 chrX 113949917 113950082 + RNU1-57P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207221 chr11 83041464 83041598 - SNORA70E snoRNA 100379250 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207222 chr5 134500178 134500284 - RNU6-456P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207223 chr15 64652888 64652989 + RF00019 misc_RNA 0 1 0 0 1 5 3 1 0 ENSG00000207225 chr2 147408342 147408448 + RNU6-692P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207227 chr22 37891347 37891448 + RNU6-900P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207229 chr5 55040847 55040945 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207231 chr4 185415973 185416086 - RF00019 misc_RNA 0 0 0 3 0 0 0 0 0 ENSG00000207233 chr18 54222284 54222412 - SNORA37 snoRNA 677819 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 0 0 1 1 3 0 0 0 ENSG00000207234 chr1 88816779 88816885 + RNU6-125P snRNA 7 12 4 5 10 17 10 10 6 ENSG00000207235 chr17 59260748 59260846 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207237 chr1 25964197 25964300 + RNU6-110P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207240 chr18 31382317 31382430 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207241 chr1 75787889 75787972 + SNORD45A snoRNA 26805 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207242 chr17 10857899 10858004 - RNU6-1065P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207243 chr16 178554 178656 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207244 chr8 8961575 8961708 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207245 chr15 25106521 25106603 + SNORD116-29 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207247 chr6 136934765 136934866 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207248 chr16 21642054 21642160 + RNU6-1005P snRNA 42 26 37 5 3 13 4 9 15 ENSG00000207249 chr2 104733234 104733362 + RF00139 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207251 chr3 27265580 27265683 - RNU6-342P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207252 chr11 24455911 24456010 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207255 chr2 35471605 35471708 + RNU6-1117P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207256 chr1 42991438 42991544 + RNU6-880P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207257 chr15 32284152 32284258 + RNU6-18P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207258 chr8 38744020 38744131 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207260 chr4 109992325 109992431 + RNU6-35P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207261 chr5 27111569 27111674 + RNU6-738P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207263 chr15 25082768 25082859 + SNORD116-16 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207264 chr10 21321961 21322067 + RNU6-15P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207265 chr19 52259076 52259187 - RF00019 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000207266 chr16 27998295 27998401 - RNU6-1241P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207267 chr2 11233988 11234094 + RNU6-1081P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000207268 chr9 117181066 117181200 - SNORA70C snoRNA This gene produces a small nucleolar RNA (snoRNA) that plays a role in post-transcriptional modification. This snoRNA is a type-3 retrotransposed snoRNA, where the ribosomal protein L10 gene on chromosome X is its parental gene, and this, together with part of the parental gene, was subsequently mobilized into an intron of the astrotactin 2 host gene on chromosome 9. This snoRNA contains a H/ACA box, which serves as a guide for the pseudouridylation of selected bases of ribosomal RNA by forming short duplexes with the 18S rRNA U1692, the target for this snoRNA. This gene is specific to human, chimp and orangutan, and is not found in the genomes of rhesus or marmoset. [provided by RefSeq, Jun 2010]. 100124538 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207269 chr5 100733058 100733386 + RN7SKP62 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207270 chr2 149610668 149610774 - RNU6-601P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207271 chr10 36626015 36626138 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207274 chr2 214846947 214847081 + SNORA70I snoRNA 109617008 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207275 chr10 82340771 82340876 + RNU6-441P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207276 chr9 96256216 96256319 - RNU6-1160P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207277 chr9 63813190 63813307 + RNA5SP284 rRNA_pseudogene 2 1 0 1 0 2 1 0 0 ENSG00000207278 chr18 3894699 3894805 - RNU6-831P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207279 chr15 25094037 25094128 + SNORD116-24 snoRNA 0 0 0 0 0 0 0 0 2 ENSG00000207280 chr2 231456444 231456523 - SNORD20 snoRNA 6082 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 0 19 18 10 15 4 14 ENSG00000207281 chr19 40339059 40339164 - RF00019 misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000207282 chr20 18113467 18113579 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207283 chr3 5086178 5086279 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207286 chr6 25287432 25287533 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207287 chr10 96743167 96743273 + RNU6-1274P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207289 chr15 21307749 21307855 + RNU6-1235P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207290 chr5 128371099 128371212 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207291 chrX 101634006 101634112 - RNU6-30P snRNA 4 1 1 5 10 27 11 3 10 ENSG00000207292 chr6 149631437 149631549 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207293 chr5 57169108 57169209 - RF00019 misc_RNA 1 2 1 5 4 5 1 1 0 ENSG00000207294 chr16 15150697 15150796 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207295 chr2 38884560 38884666 - RNU6-851P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207296 chr19 38797002 38797109 - RNU6-140P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207297 chr17 35573657 35573753 + SNORD7 snoRNA This gene encodes a spliceosomal small nuclear RNA that has orthologs in S. pombe and D. melanogaster. In S. pombe, this gene is required for site-specific 2'-O-methylation of U6 snRNA at position A41. While this is not an essential gene for S. pombe growth, loss of this gene's function may result in a slight decrease in mRNA splicing efficiency. [provided by RefSeq, Oct 2008]. 692076 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207298 chr13 99025234 99025345 + RNU6-83P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207299 chr11 90118391 90118461 + RF00275 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207300 chr6 137784374 137784486 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207302 chr1 25877496 25877605 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207303 chr2 216351403 216351504 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207304 chr11 93732361 93732499 - SNORA8 snoRNA 654320 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207305 chr20 2453010 2453117 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207306 chr17 48196680 48196786 - RNU6-1152P snRNA 1 0 0 2 2 0 1 0 0 ENSG00000207307 chr4 76532222 76532327 - RNU6-145P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207308 chr11 2321718 2321827 + RNU6-878P snRNA 0 0 1 1 0 2 5 2 0 ENSG00000207309 chr6 96649453 96649591 - RNU4-70P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207310 chr3 119341834 119341940 - RNU6-1127P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207312 chr5 11027200 11027307 + RNU6-429P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207313 chr12 48667457 48667593 - SNORA2B snoRNA 677794 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 0 1 3 6 12 0 0 6 ENSG00000207316 chr3 88431191 88431309 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207317 chr5 140019492 140019592 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207318 chr7 147831770 147831877 + RNU6-1184P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207319 chr2 206701065 206701185 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207320 chrX 3641443 3641555 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207321 chr1 153331622 153331728 + RNU6-160P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207322 chr4 135995929 135996092 - RNU1-89P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207323 chr3 153471466 153471571 - RNU6-901P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207325 chr13 32763438 32763552 - RNY1P4 misc_RNA 0 1 0 0 0 3 4 1 0 ENSG00000207326 chr1 246426006 246426119 - RF00019 misc_RNA 0 0 0 2 0 0 0 0 0 ENSG00000207327 chr10 73529051 73529157 - RNU6-883P snRNA 0 0 0 0 0 0 2 0 0 ENSG00000207328 chr1 37203610 37203716 + RNU6-636P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207329 chr9 109324685 109324796 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207330 chr13 27828763 27828869 + RNU6-73P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207331 chr3 98908459 98908564 + RNU6-1263P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207332 chrX 3607258 3607365 - RNU6-146P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207333 chr5 75709495 75709599 - RNU6-680P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207334 chr8 118976513 118976619 + RNU6-12P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207336 chr5 74725099 74725204 - RNU6-658P snRNA 2 0 2 3 2 7 4 0 0 ENSG00000207338 chr7 123457988 123458094 - RNU6-296P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207340 chr1 148362370 148362533 - RNVU1-1 snRNA 101954273 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 1 0 0 2 0 0 2 2 1 ENSG00000207341 chr1 166042244 166042350 + RNA5SP64 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000207342 chr14 88840165 88840263 + RF00019 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000207343 chr22 20416797 20416899 - RNU6-225P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207344 chr7 65065999 65066132 + SNORA22C snoRNA 109616965 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 4 0 0 0 0 0 0 ENSG00000207345 chr6 148278672 148278778 + RNU6-1222P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207347 chr10 21564471 21564577 - RNU6-306P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207349 chr1 143699456 143699619 - RNVU1-17 snRNA 101954269 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000207351 chr3 184086791 184086903 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207352 chr5 65604661 65604761 - RNU6-540P snRNA 1 3 2 2 1 0 3 10 4 ENSG00000207355 chr20 24974171 24974280 + RNU6-1257P snRNA 0 0 4 1 6 3 0 2 4 ENSG00000207356 chr1 39944890 39944998 - RF00019 misc_RNA 1 0 0 3 1 0 0 0 0 ENSG00000207357 chr19 1021522 1021628 + RNU6-2 snRNA 103625684 0 0 0 0 2 1 0 0 0 ENSG00000207359 chr8 89900721 89900824 - RNU6-925P snRNA 5 2 2 3 2 2 8 1 6 ENSG00000207360 chr9 15776181 15776286 - RNU6-14P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207361 chr8 28416448 28416551 + RNU6-178P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207362 chr10 100258571 100258677 + RNU6-422P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207363 chrX 107901145 107901246 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207364 chr2 37331770 37331876 - RNU6-939P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207365 chr12 93021606 93021712 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207366 chr14 48341226 48341332 - RNU6-297P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207367 chrX 48776965 48777071 - RNU6-29P snRNA 0 1 0 0 0 3 0 0 0 ENSG00000207368 chr3 195419436 195419546 - RF00019 misc_RNA 3 0 3 1 3 0 3 1 0 ENSG00000207369 chr8 47667771 47667877 + RNU6-665P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207370 chr3 193624189 193624301 + RF00019 misc_RNA 1 2 1 0 5 0 0 0 0 ENSG00000207371 chr6 41917416 41917526 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207375 chr15 25091786 25091877 + SNORD116-23 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207378 chr8 98462944 98463050 - RNU6-748P snRNA 0 1 1 1 4 0 1 0 0 ENSG00000207379 chr1 93385711 93385817 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207380 chr20 5964538 5964650 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207381 chr12 54317781 54317887 - RNU6-950P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207382 chr17 62661621 62661725 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207383 chr2 112579484 112579584 - RF00019 misc_RNA 0 2 0 0 0 0 0 2 0 ENSG00000207384 chr4 139200395 139200513 + RF00019 misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000207385 chr4 53265461 53265567 - RNU6-310P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207386 chr2 206025593 206025697 + RF00019 misc_RNA 0 2 0 0 0 0 0 0 3 ENSG00000207387 chr12 70906917 70907018 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207389 chr1 16740516 16740679 + RNU1-4 snRNA 6060 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 0 0 1 0 0 ENSG00000207391 chr5 79534853 79534954 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207392 chr6 159780250 159780381 - SNORA20 snoRNA 677806 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207393 chr2 218589214 218589320 - RNU6-136P snRNA 0 0 0 0 0 0 0 3 0 ENSG00000207394 chr6 23124981 23125087 - RNU6-1060P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207395 chr15 69406441 69406552 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207397 chr19 22555261 22555367 + RNU6-1179P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207399 chr8 103384961 103385067 + RNU6-1011P snRNA 0 0 1 7 0 0 0 0 0 ENSG00000207401 chr9 110934406 110934507 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207402 chr2 191121950 191122056 + RNU6-959P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207403 chr6 121378797 121378898 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207404 chr5 108891437 108891546 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207405 chr16 1962973 1963106 - SNORA64 snoRNA 26784 GO:0005730, nucleolus, GO:0005515, protein binding, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207406 chr2 206162228 206162359 + SNORA41 snoRNA 619569 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207407 chr11 19591156 19591291 - RF00408 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207408 chrX 53324562 53324674 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207410 chr17 67271469 67271607 + RF00393 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207411 chr2 43620878 43620984 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207412 chr14 31686692 31686798 - RNU6-455P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000207414 chr12 101199271 101199377 - RNU6-768P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207415 chr8 9287472 9287578 - RNU6-1151P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207416 chr21 36986739 36986851 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207417 chr8 74376687 74376793 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207419 chr6 11709819 11709960 + RF00272 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207420 chr5 176556704 176556805 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207421 chr1 44778390 44778456 + SNORD38B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207422 chr6 151615773 151615879 - RNU6-813P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207425 chr16 14915457 14915556 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207426 chrX 96701507 96701619 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207428 chr4 68003895 68004001 + RNU6-95P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207430 chr15 30581184 30581316 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207431 chr6 146639700 146639769 + RNU6-906P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207432 chr15 30112198 30112330 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207433 chr9 15544188 15544294 + RNU6-246P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207434 chr1 12922554 12922660 + RNU6-1072P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207435 chrX 3572857 3572961 + RNU6-114P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207438 chr10 68503152 68503259 + RF00019 misc_RNA 1 3 3 0 0 0 0 0 0 ENSG00000207439 chr5 65123369 65123474 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207440 chr14 31142939 31143048 + RNU6-541P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207441 chr16 62187540 62187646 - RNU6-21P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207442 chr15 25065026 25065121 + SNORD116-6 snoRNA 0 0 0 2 0 0 0 1 0 ENSG00000207443 chr7 63011463 63011569 - RNU6-417P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207444 chr14 71398337 71398407 + SNORD56B snoRNA 319139 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 3 0 0 3 8 2 0 5 ENSG00000207445 chr11 75404421 75404566 + SNORD15B snoRNA 114599 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 2 3 7 5 0 0 0 ENSG00000207448 chr4 70701755 70701858 + RNU6-520P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207449 chr15 65553081 65553187 - RNU6-19P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207450 chr8 47805079 47805179 - RF00019 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000207451 chr1 11226254 11226360 + RNU6-291P snRNA 0 1 2 1 0 0 0 0 0 ENSG00000207452 chr5 87299687 87299797 - RNU6-606P snRNA 0 4 0 1 2 0 2 0 3 ENSG00000207453 chr10 7486703 7486809 - RNU6-535P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207454 chr7 101269938 101270041 - RNU6-1104P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207455 chr22 29899587 29899693 - RNU6-331P snRNA 1 5 2 0 3 0 0 0 0 ENSG00000207456 chr2 53570374 53570480 - RNU6-997P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207457 chr22 41679711 41679817 + RNU6-476P snRNA 0 1 4 2 7 2 3 3 4 ENSG00000207458 chr13 40226827 40226932 + RNY3P9 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207459 chr5 134634839 134634945 - RNU6-1311P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207460 chr15 25086527 25086618 + SNORD116-19 snoRNA 0 0 0 0 0 0 0 0 2 ENSG00000207461 chr6 117457734 117457838 - RNU6-253P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207462 chr11 118702342 118702447 + RNU6-376P snRNA 0 1 0 0 0 0 0 0 0 ENSG00000207466 chr1 38950825 38950925 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207467 chr12 48809911 48810016 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207468 chr10 119060011 119060138 - SNORA19 snoRNA 641451 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 1 0 0 0 2 0 ENSG00000207472 chr1 182982212 182982318 - RNU6-41P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207473 chr10 73346936 73347048 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207474 chr13 24703556 24703665 - RNY1P7 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207475 chr1 155919909 155920045 - SNORA80E snoRNA 677823 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207476 chr21 13621577 13621683 + RNU6-286P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207480 chr4 88330176 88330278 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207481 chr4 41303237 41303337 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207483 chr10 28667919 28668025 + RNU6-1067P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000207484 chr15 51884556 51884653 + RF00019 misc_RNA 0 0 2 0 0 0 0 0 0 ENSG00000207486 chrX 73397531 73397637 - RNU6-1044P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207488 chr7 90251923 90252020 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207490 chr6 25383599 25383702 + RNU6-987P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207492 chr12 40554161 40554267 - RNU6-713P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207493 chr16 58548499 58548633 - SNORA46 snoRNA 677827 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 0 0 0 0 3 0 0 0 ENSG00000207494 chr10 124814958 124815062 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207495 chr13 69802940 69803041 + RNY3P10 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207496 chr3 12840312 12840450 - SNORA7A snoRNA 619563 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207497 chr4 185709873 185709967 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207499 chr6 106420706 106420807 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207500 chr13 27255064 27255135 + SNORD102 snoRNA 26771 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207501 chr1 145281116 145281279 + RNVU1-14 snRNA 101954266 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000207502 chr1 115621872 115622005 - RF00406 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207503 chr21 41539206 41539326 + RF00421 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000207504 chr1 67541127 67541233 + RNU6-1031P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207505 chr3 186771841 186771947 - RNU6-1105P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207507 chr19 893484 893590 + RNU6-9 snRNA 101954271 GO:0046540, GO:0005688, U4/U6 x U5 tri-snRNP complex, U6 snRNP, GO:0030621, U4 snRNA binding, GO:0000353, GO:0000244, formation of quadruple SL/U4/U5/U6 snRNP, spliceosomal tri-snRNP complex assembly, 0 0 0 0 0 0 0 0 0 ENSG00000207508 chr1 40177843 40177949 + RNU6-1237P snRNA 0 0 0 1 0 0 2 0 4 ENSG00000207511 chr1 13279125 13279231 - RNU6-771P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207512 chr3 38505480 38505581 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000207513 chr1 16666785 16666948 - RNU1-3 snRNA 26869 0 0 0 0 0 0 2 0 0 ENSG00000207515 chrX 90597235 90597340 - RNU6-555P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000207516 chr15 45537250 45537377 + SNORA41B snoRNA 109617005 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000207518 chr13 21551304 21551410 - RNU6-59P snRNA 0 0 1 0 0 2 0 2 0 ENSG00000207523 chr1 92840719 92840851 + SNORA66 snoRNA This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009]. 26782 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 1 1 1 5 0 0 ENSG00000207524 chr4 88684848 88684954 - RNU6-33P snRNA 0 1 0 1 1 4 4 0 0 ENSG00000207525 chr16 74463888 74463988 - RF00019 misc_RNA 3 2 7 1 7 0 4 0 0 ENSG00000207546 chr12 64622509 64622605 + MIR548C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693129 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0060045, GO:0035195, GO:0010629, GO:0010628, positive regulation of cardiac muscle cell proliferation, gene silencing by miRNA, negative regulation of gene expression, positive regulation of gene expression, 2 3 2 0 0 1 0 0 1 ENSG00000207547 chr7 100093560 100093643 - MIR25 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407014 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1903243, GO:0055022, GO:0035195, GO:0035195, negative regulation of cardiac muscle hypertrophy in response to stress, negative regulation of cardiac muscle tissue growth, gene silencing by miRNA, gene silencing by miRNA, 1 5 5 4 13 8 0 2 5 ENSG00000207548 chr2 55982967 55983076 - MIR217 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406999 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000774, GO:1901985, GO:0035195, GO:0035195, GO:0032715, GO:0016525, positive regulation of cellular senescence, positive regulation of protein acetylation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-6 production, negative regulation of angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000207549 chr19 53716594 53716680 + MIR521-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574481 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207550 chr19 51692612 51692681 + MIR99B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407056 GO:0005615, extracellular space, GO:0045766, GO:0045603, GO:0045429, GO:0035195, positive regulation of angiogenesis, positive regulation of endothelial cell differentiation, positive regulation of nitric oxide biosynthetic process, gene silencing by miRNA, 0 0 0 1 1 0 0 0 0 ENSG00000207551 chr10 100974985 100975084 + MIR608 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693193 0 0 0 0 0 0 0 0 0 ENSG00000207552 chr17 62944215 62944312 + MIR633 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693218 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207554 chr20 63942631 63942726 - MIR647 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693232 3 3 1 0 0 3 4 2 2 ENSG00000207559 chr4 165386242 165386337 + MIR578 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693163 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207561 chr17 68424451 68424548 - MIR635 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693220 12 16 18 14 23 10 7 17 22 ENSG00000207562 chr11 111513439 111513515 + MIR34C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407042 GO:1905205, GO:1903671, GO:1903244, GO:0051898, GO:0035195, positive regulation of connective tissue replacement, negative regulation of sprouting angiogenesis, positive regulation of cardiac muscle hypertrophy in response to stress, negative regulation of protein kinase B signaling, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207563 chr9 95085208 95085304 + MIR23B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407011 GO:1903561, extracellular vesicle, GO:0035195, gene silencing by miRNA, 0 0 2 0 0 0 0 0 0 ENSG00000207568 chr14 104117405 104117514 + MIR203A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406986 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1900016, GO:0035195, GO:0035195, GO:0032717, negative regulation of cytokine production involved in inflammatory response, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, 0 0 0 0 0 0 0 0 0 ENSG00000207569 chr14 100881886 100881978 + MIR433 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574034 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207571 chr12 54033950 54034045 + MIR615 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693200 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207573 chr7 32732981 32733077 + MIR550A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693134 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207574 chr8 143945191 143945279 - MIR661 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724031 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 1 0 1 0 0 0 0 ENSG00000207575 chr22 21034176 21034272 - MIR649 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693234 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207577 chr6 106784125 106784220 + MIR587 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693172 0 0 0 0 0 0 0 0 0 ENSG00000207578 chr5 96079138 96079212 + MIR583 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693168 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207579 chr16 770183 770277 + MIR662 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724032 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207580 chr19 53694393 53694475 + MIR526B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574468 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207581 chr9 128244721 128244830 - MIR199B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406978 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905203, GO:1900239, GO:0061052, GO:0060044, GO:0051151, GO:0050714, GO:0045766, GO:0045765, GO:0045603, GO:0035195, GO:0035195, regulation of connective tissue replacement, regulation of phenotypic switching, negative regulation of cell growth involved in cardiac muscle cell development, negative regulation of cardiac muscle cell proliferation, negative regulation of smooth muscle cell differentiation, positive regulation of protein secretion, positive regulation of angiogenesis, regulation of angiogenesis, positive regulation of endothelial cell differentiation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207582 chr8 134800520 134800607 - MIR30B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407030 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000352, GO:1905563, GO:1903672, GO:1902951, GO:1900272, GO:0061886, GO:0045590, GO:0042104, GO:0035195, GO:0035195, GO:0035195, GO:0030511, GO:0016525, GO:0010628, GO:0001934, negative regulation of endothelial cell apoptotic process, negative regulation of vascular endothelial cell proliferation, positive regulation of sprouting angiogenesis, negative regulation of dendritic spine maintenance, negative regulation of long-term synaptic potentiation, negative regulation of mini excitatory postsynaptic potential, negative regulation of regulatory T cell differentiation, positive regulation of activated T cell proliferation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, positive regulation of transforming growth factor beta receptor signaling pathway, negative regulation of angiogenesis, positive regulation of gene expression, positive regulation of protein phosphorylation, 0 0 0 0 1 0 2 1 0 ENSG00000207583 chr10 75552458 75552553 + MIR606 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693191 0 0 0 0 0 0 0 0 0 ENSG00000207585 chr19 13874875 13875011 + MIR181D miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574457 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1900745, GO:0045944, GO:0035278, GO:0035195, GO:0035195, GO:0032691, GO:0030335, positive regulation of p38MAPK cascade, positive regulation of transcription by RNA polymerase II, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-1 beta production, positive regulation of cell migration, 0 0 1 0 0 0 0 0 0 ENSG00000207586 chr12 97563812 97563911 + MIR135A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406926 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207587 chr14 101048658 101048748 + MIR544A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 664613 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207588 chr7 128081861 128081960 + MIR593 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693178 GO:0035195, gene silencing by miRNA, 0 0 0 1 0 0 0 0 0 ENSG00000207589 chrX 147236913 147237027 - MIR508 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574513 0 0 0 0 0 0 0 0 0 ENSG00000207590 chr1 220117853 220117962 - MIR215 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406997 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0032705, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-21 production, 0 0 0 0 0 0 0 0 0 ENSG00000207594 chr19 53690881 53690965 + MIR520A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574467 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1900087, GO:0035195, GO:0035195, GO:0008284, positive regulation of G1/S transition of mitotic cell cycle, gene silencing by miRNA, gene silencing by miRNA, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207595 chr9 124692442 124692551 + MIR181A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406954 GO:0045177, GO:0005615, GO:0005615, apical part of cell, extracellular space, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1903427, GO:1900745, GO:0050728, GO:0045603, GO:0045598, GO:0045429, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032720, GO:0032715, GO:0032691, GO:0032690, GO:0030335, GO:0010629, negative regulation of reactive oxygen species biosynthetic process, positive regulation of p38MAPK cascade, negative regulation of inflammatory response, positive regulation of endothelial cell differentiation, regulation of fat cell differentiation, positive regulation of nitric oxide biosynthetic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, negative regulation of interleukin-1 alpha production, positive regulation of cell migration, negative regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000207597 chr7 136903167 136903294 + MIR490 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574443 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207598 chr20 63178500 63178586 + MIR124-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406909 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207599 chr19 53675711 53675797 + MIR520E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574461 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000010, GO:0045958, GO:0035278, GO:0035195, positive regulation of protein localization to cell surface, positive regulation of complement activation, alternative pathway, miRNA mediated inhibition of translation, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207600 chr8 11035206 11035302 - MIR598 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693183 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207604 chr6 52144349 52144434 + MIR206 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. Disruption of the encoded miRNA has been implicated in multiple skeletal muscle disorders, including amyotrophic lateral sclerosis (ALS) and Duchenne muscular dystrophy (DMD), as well as in several cancers. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Aug 2017]. 406989 GO:0016442, RISC complex, GO:1903231, GO:0005515, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, protein binding, mRNA 3'-UTR binding, GO:1902004, GO:0150078, GO:0090051, GO:0060354, GO:0035195, GO:0035195, GO:0032760, GO:0032731, GO:0032715, GO:0014067, GO:0010831, GO:0010629, GO:0010455, positive regulation of amyloid-beta formation, positive regulation of neuroinflammatory response, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of cell adhesion molecule production, gene silencing by miRNA, gene silencing by miRNA, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 beta production, negative regulation of interleukin-6 production, negative regulation of phosphatidylinositol 3-kinase signaling, positive regulation of myotube differentiation, negative regulation of gene expression, positive regulation of cell fate commitment, 0 0 0 0 0 0 0 0 0 ENSG00000207605 chr3 49020618 49020709 - MIR191 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406966 GO:1903561, GO:0005615, GO:0005615, extracellular vesicle, extracellular space, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 3 2 0 1 1 ENSG00000207606 chr1 151545796 151545891 + MIR554 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693139 GO:0035195, gene silencing by miRNA, 0 0 1 0 0 0 1 2 0 ENSG00000207607 chr1 1167863 1167952 + MIR200A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406983 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904646, GO:0043536, GO:0043525, GO:0035195, GO:0035195, GO:0035195, cellular response to amyloid-beta, positive regulation of blood vessel endothelial cell migration, positive regulation of neuron apoptotic process, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207608 chr14 100882979 100883075 + MIR127 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406914 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207609 chr9 20716105 20716188 + MIR491 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574444 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0030336, gene silencing by miRNA, gene silencing by miRNA, negative regulation of cell migration, 0 1 0 0 0 0 0 2 0 ENSG00000207611 chr2 240456001 240456089 + MIR149 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406941 GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:2000545, GO:1904893, GO:1903588, GO:1901223, GO:0090051, GO:0071354, GO:0051497, GO:0050728, GO:0044344, GO:0040037, GO:0035195, GO:0035195, GO:0035195, GO:0032967, GO:0032916, GO:0032720, GO:0032715, GO:0030336, GO:0010719, negative regulation of endothelial cell chemotaxis to fibroblast growth factor, negative regulation of receptor signaling pathway via STAT, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of NIK/NF-kappaB signaling, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to interleukin-6, negative regulation of stress fiber assembly, negative regulation of inflammatory response, cellular response to fibroblast growth factor stimulus, negative regulation of fibroblast growth factor receptor signaling pathway, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, positive regulation of collagen biosynthetic process, positive regulation of transforming growth factor beta3 production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of cell migration, negative regulation of epithelial to mesenchymal transition, 0 0 0 0 0 0 0 0 0 ENSG00000207612 chr10 29545004 29545097 - MIR604 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693189 GO:0035195, gene silencing by miRNA, 0 3 1 0 1 2 0 2 0 ENSG00000207613 chr19 13874699 13874808 + MIR181C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406957 GO:0005615, extracellular space, GO:1903231, GO:0003727, mRNA binding involved in posttranscriptional gene silencing, single-stranded RNA binding, GO:1901646, GO:0061889, GO:0050868, GO:0050728, GO:0050728, GO:0046007, GO:0043524, GO:0035278, GO:0035195, GO:0035195, GO:0032716, GO:0032703, GO:0032700, GO:0032690, GO:0031047, GO:0001774, negative regulation of synoviocyte proliferation, negative regulation of astrocyte activation, negative regulation of T cell activation, negative regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of activated T cell proliferation, negative regulation of neuron apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-7 production, negative regulation of interleukin-2 production, negative regulation of interleukin-17 production, negative regulation of interleukin-1 alpha production, gene silencing by RNA, microglial cell activation, 0 0 3 2 0 0 0 0 0 ENSG00000207614 chr17 31559996 31560083 + MIR193A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406968 GO:1903561, extracellular vesicle, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000134, GO:1905563, GO:1903588, GO:0090051, GO:0043537, GO:0035195, GO:0035195, GO:0016525, GO:0006974, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular endothelial cell proliferation, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, cellular response to DNA damage stimulus, 0 1 0 3 2 0 0 1 0 ENSG00000207615 chr19 53685009 53685091 + MIR515-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574465 0 0 0 0 0 0 0 0 0 ENSG00000207616 chr19 53679003 53679085 + MIR515-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574462 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1900087, GO:0035195, GO:0035195, GO:0008284, positive regulation of G1/S transition of mitotic cell cycle, gene silencing by miRNA, gene silencing by miRNA, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207617 chr9 95086014 95086094 - MIR3074 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422842 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207619 chr5 169263601 169263694 - MIR585 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693170 0 0 0 0 0 0 0 0 0 ENSG00000207620 chr19 53761133 53761222 + MIR516A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574499 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207622 chr12 108836908 108837006 - MIR619 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693204 GO:0070062, extracellular exosome, 0 0 1 0 1 0 0 0 0 ENSG00000207624 chr1 220118157 220118241 - MIR194-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406969 GO:1903561, GO:0005615, GO:0005615, extracellular vesicle, extracellular space, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0032693, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-10 production, 0 0 0 0 0 0 0 0 0 ENSG00000207625 chr3 35744476 35744559 + MIR128-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406916 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207626 chr2 232172653 232172747 + MIR562 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693147 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207627 chr5 53951504 53951599 - MIR581 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693166 GO:0035195, gene silencing by miRNA, 0 0 1 0 1 0 0 0 0 ENSG00000207628 chrX 8126965 8127061 + MIR651 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 723779 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207629 chr19 53706252 53706336 + MIR526A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574475 GO:0005575, cellular_component, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207630 chr19 4770670 4770779 + MIR7-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407045 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207631 chr19 40282543 40282641 - MIR641 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693226 0 0 0 1 0 2 1 1 0 ENSG00000207632 chr6 126484631 126484713 + MIR588 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693173 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0030336, gene silencing by miRNA, negative regulation of cell migration, 0 0 0 0 0 0 0 0 0 ENSG00000207633 chrX 139924148 139924231 - MIR505 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574508 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0043537, GO:0035195, GO:0035195, GO:0016525, negative regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, 0 0 0 0 0 0 2 4 0 ENSG00000207634 chr19 53748636 53748722 + MIR521-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574494 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207635 chr20 34990376 34990497 + MIR499A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574501 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000818, GO:2000727, GO:1905564, GO:1904754, GO:1904707, GO:0043536, GO:0035278, GO:0035195, GO:0035195, GO:0014883, negative regulation of myoblast proliferation, positive regulation of cardiac muscle cell differentiation, positive regulation of vascular endothelial cell proliferation, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of blood vessel endothelial cell migration, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, transition between fast and slow fiber, 2 3 1 2 3 0 0 1 0 ENSG00000207637 chr7 158532718 158532813 - MIR595 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693180 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207638 chr21 16539089 16539169 + MIR99A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407055 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904893, GO:0070104, GO:0035195, GO:0035195, negative regulation of receptor signaling pathway via STAT, negative regulation of interleukin-6-mediated signaling pathway, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207639 chr16 14303967 14304049 + MIR193B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574455 GO:0070062, extracellular exosome, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207641 chrX 147272335 147272408 - MIR510 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574515 0 0 0 0 0 0 0 0 0 ENSG00000207642 chr4 350157 350252 + MIR571 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693156 0 0 0 0 0 0 0 0 0 ENSG00000207644 chr19 53669157 53669254 + MIR512-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574459 0 0 0 0 0 0 0 0 0 ENSG00000207645 chr19 53666679 53666762 + MIR512-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574458 0 0 0 0 0 0 0 0 0 ENSG00000207646 chr14 101049550 101049646 + MIR655 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724025 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207647 chr2 219294111 219294200 - MIR153-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406944 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1905651, GO:1903817, GO:1902430, GO:0060087, GO:0042985, GO:0035195, GO:0035195, regulation of artery morphogenesis, negative regulation of voltage-gated potassium channel activity, negative regulation of amyloid-beta formation, relaxation of vascular associated smooth muscle, negative regulation of amyloid precursor protein biosynthetic process, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207649 chr16 56858518 56858601 + MIR138-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406930 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207650 chr3 195699401 195699497 + MIR570 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693155 0 0 0 0 0 0 0 0 0 ENSG00000207651 chr3 188688781 188688866 + MIR28 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407020 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0150159, GO:0035278, GO:0035195, GO:0035195, negative regulation of interleukin-34 production, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 1 0 ENSG00000207652 chr13 40810766 40810861 + MIR621 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693206 GO:0035195, gene silencing by miRNA, 0 2 0 0 1 0 7 0 2 ENSG00000207653 chr2 32532153 32532246 + MIR558 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693143 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207654 chr2 135665397 135665478 + MIR128-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406915 GO:0005615, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1903980, GO:0150078, GO:0140076, GO:0090370, GO:0055088, GO:0042632, GO:0035195, GO:0035195, GO:0035195, GO:0010985, GO:0001934, positive regulation of microglial cell activation, positive regulation of neuroinflammatory response, negative regulation of lipoprotein transport, negative regulation of cholesterol efflux, lipid homeostasis, cholesterol homeostasis, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of lipoprotein particle clearance, positive regulation of protein phosphorylation, 1 0 0 0 0 0 0 0 0 ENSG00000207656 chr7 93483936 93484019 - MIR489 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574442 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207688 chr17 67471489 67471585 + MIR548AA2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500895 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 3 ENSG00000207689 chr6 135239160 135239256 + MIR548A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693126 0 0 0 0 0 0 0 0 0 ENSG00000207691 chr7 129774905 129775014 - MIR183 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406959 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0050766, GO:0035195, GO:0010812, GO:0010629, GO:0007179, positive regulation of phagocytosis, gene silencing by miRNA, negative regulation of cell-substrate adhesion, negative regulation of gene expression, transforming growth factor beta receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000207692 chr7 127058088 127058184 - MIR592 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693177 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207693 chr9 137838419 137838516 + MIR602 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693187 0 0 0 0 1 0 0 0 0 ENSG00000207695 chr15 79209788 79209871 + MIR184 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of target mRNAs. This microRNA represents the most abundant miRNA in the corneal and lens epithelia of the eye and has been shown to interfere with target binding by another miRNA, miR-205. Through regulation of the VEGF and Akt signaling pathways, this microRNA may inhibit corneal angiogenesis. Mutations in the seed region of this microRNA cause familial keratoconus with cataract, also known as EDICT syndrome. [provided by RefSeq, Mar 2017]. 406960 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207696 chr22 37847678 37847774 - MIR659 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724029 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035278, miRNA mediated inhibition of translation, 1 0 0 0 0 0 0 0 2 ENSG00000207697 chr4 24520192 24520290 - MIR573 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693158 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0040037, GO:0035195, GO:0035195, GO:0010719, GO:0010629, negative regulation of fibroblast growth factor receptor signaling pathway, gene silencing by miRNA, gene silencing by miRNA, negative regulation of epithelial to mesenchymal transition, negative regulation of gene expression, 2 0 0 1 0 0 0 4 0 ENSG00000207698 chr9 109046229 109046298 - MIR32 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407036 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207699 chr19 53739333 53739419 + MIR518A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574491 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207701 chr8 9741672 9741768 + MIR597 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693182 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 2 0 0 ENSG00000207702 chr15 31065032 31065141 - MIR211 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406993 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207703 chr15 88611825 88611934 + MIR7-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407044 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207704 chr8 123348034 123348130 + MIR548AA1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500863 2 1 0 0 0 3 5 1 0 ENSG00000207705 chr7 128207872 128207943 + MIR129-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406917 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905563, GO:1900016, GO:0043537, GO:0035195, GO:0035195, GO:0032717, negative regulation of vascular endothelial cell proliferation, negative regulation of cytokine production involved in inflammatory response, negative regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, 0 0 0 0 0 0 0 0 0 ENSG00000207706 chr19 53700015 53700101 + MIR518F miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574472 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0035195, GO:0008150, gene silencing by miRNA, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000207708 chr12 6964097 6964191 + MIR141 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406933 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1904995, GO:1904995, GO:0050728, GO:0045071, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0008284, negative regulation of leukocyte adhesion to vascular endothelial cell, negative regulation of leukocyte adhesion to vascular endothelial cell, negative regulation of inflammatory response, negative regulation of viral genome replication, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207711 chr19 53697533 53697617 + MIR525 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574470 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207712 chr15 42199570 42199666 - MIR627 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693212 0 0 0 0 0 0 0 0 0 ENSG00000207713 chr12 6963699 6963766 + MIR200C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406985 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1905772, GO:1905562, GO:1904645, GO:1901215, GO:0150128, GO:0090051, GO:0070373, GO:0051898, GO:0045669, GO:0045603, GO:0035278, GO:0035195, GO:0035195, GO:0034976, GO:0030948, GO:0010976, GO:0001818, positive regulation of mesodermal cell differentiation, regulation of vascular endothelial cell proliferation, response to amyloid-beta, negative regulation of neuron death, negative regulation of interleukin-33 production, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of ERK1 and ERK2 cascade, negative regulation of protein kinase B signaling, positive regulation of osteoblast differentiation, positive regulation of endothelial cell differentiation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, response to endoplasmic reticulum stress, negative regulation of vascular endothelial growth factor receptor signaling pathway, positive regulation of neuron projection development, negative regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000207714 chr5 149062313 149062409 - MIR584 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693169 GO:0005615, extracellular space, GO:0000993, RNA polymerase II complex binding, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207716 chr4 11368827 11368921 + MIR572 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693157 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207717 chr3 168551854 168551949 + MIR551B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693136 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207719 chr13 99356131 99356228 + MIR623 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693208 2 3 5 2 2 0 1 1 2 ENSG00000207721 chr1 71067631 71067716 - MIR186 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406962 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1902430, GO:0035195, GO:0035195, negative regulation of amyloid-beta formation, gene silencing by miRNA, gene silencing by miRNA, 8 9 14 13 7 11 8 0 0 ENSG00000207722 chr19 53701227 53701287 + MIR520B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574473 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000010, GO:0045958, GO:0035278, GO:0035195, GO:0035195, GO:0032717, positive regulation of protein localization to cell surface, positive regulation of complement activation, alternative pathway, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, 0 0 0 0 0 0 0 0 0 ENSG00000207725 chrX 45747015 45747124 - MIR222 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407007 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:2000726, GO:1905046, GO:1904995, GO:1904707, GO:1903588, GO:1903122, GO:1903122, GO:1902034, GO:1900149, GO:1900087, GO:1900016, GO:0090263, GO:0070374, GO:0060354, GO:0060045, GO:0051897, GO:0050728, GO:0048680, GO:0045648, GO:0044828, GO:0043066, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0032705, GO:0016525, GO:0010718, GO:0010634, negative regulation of cardiac muscle cell differentiation, positive regulation of Schwann cell proliferation involved in axon regeneration, negative regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of TRAIL-activated apoptotic signaling pathway, negative regulation of TRAIL-activated apoptotic signaling pathway, negative regulation of hematopoietic stem cell proliferation, positive regulation of Schwann cell migration, positive regulation of G1/S transition of mitotic cell cycle, negative regulation of cytokine production involved in inflammatory response, positive regulation of canonical Wnt signaling pathway, positive regulation of ERK1 and ERK2 cascade, negative regulation of cell adhesion molecule production, positive regulation of cardiac muscle cell proliferation, positive regulation of protein kinase B signaling, negative regulation of inflammatory response, positive regulation of axon regeneration, positive regulation of erythrocyte differentiation, negative regulation by host of viral genome replication, negative regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-21 production, negative regulation of angiogenesis, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial cell migration, 1 0 3 0 2 0 0 3 1 ENSG00000207726 chr9 114209434 114209529 + MIR455 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 619556 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1902430, GO:0042985, GO:0035195, GO:0035195, negative regulation of amyloid-beta formation, negative regulation of amyloid precursor protein biosynthetic process, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207728 chr5 55170646 55170742 - MIR449B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693123 GO:0035195, gene silencing by miRNA, 0 0 0 0 1 0 0 0 0 ENSG00000207729 chr1 162342546 162342640 + MIR556 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693141 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207730 chr1 1167104 1167198 + MIR200B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406984 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000726, GO:0150128, GO:0071158, GO:0061044, GO:0060044, GO:0043537, GO:0043537, GO:0043066, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0016525, GO:0010832, GO:0010629, GO:0010629, GO:0008284, negative regulation of cardiac muscle cell differentiation, negative regulation of interleukin-33 production, positive regulation of cell cycle arrest, negative regulation of vascular wound healing, negative regulation of cardiac muscle cell proliferation, negative regulation of blood vessel endothelial cell migration, negative regulation of blood vessel endothelial cell migration, negative regulation of apoptotic process, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, negative regulation of myotube differentiation, negative regulation of gene expression, negative regulation of gene expression, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207731 chrX 147230720 147230843 - MIR506 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574511 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0060355, GO:0035195, GO:0032717, GO:0031327, GO:0010629, GO:0010628, positive regulation of cell adhesion molecule production, gene silencing by miRNA, negative regulation of interleukin-8 production, negative regulation of cellular biosynthetic process, negative regulation of gene expression, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000207732 chr4 20528275 20528384 + MIR218-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407000 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904753, GO:0043407, GO:0035278, GO:0035195, GO:0035195, GO:0032966, GO:0030336, GO:0008285, negative regulation of vascular associated smooth muscle cell migration, negative regulation of MAP kinase activity, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of collagen biosynthetic process, negative regulation of cell migration, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207734 chr19 53712268 53712354 + MIR517A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574479 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207735 chr19 53720096 53720182 + MIR520D miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574482 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207736 chr17 81125276 81125373 - MIR657 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724027 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0150138, GO:0050727, GO:0035195, GO:0035195, GO:0032760, GO:0032755, GO:0008284, negative regulation of interleukin-37 production, regulation of inflammatory response, gene silencing by miRNA, gene silencing by miRNA, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of cell population proliferation, 7 21 25 14 29 15 12 15 40 ENSG00000207737 chr9 124693710 124693798 + MIR181B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406956 0 2 5 0 0 0 0 0 0 ENSG00000207738 chr19 53707453 53707539 + MIR520C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574476 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0060355, GO:0042985, GO:0035278, GO:0035195, GO:0035195, GO:0032717, GO:0031327, GO:0010629, GO:0010628, GO:0010561, GO:0001960, positive regulation of cell adhesion molecule production, negative regulation of amyloid precursor protein biosynthetic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, negative regulation of cellular biosynthetic process, negative regulation of gene expression, positive regulation of gene expression, negative regulation of glycoprotein biosynthetic process, negative regulation of cytokine-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000207739 chr5 168768146 168768255 - MIR218-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407001 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207741 chr7 74191198 74191294 + MIR590 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693175 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000773, GO:2000726, GO:2000352, GO:1905180, GO:1903427, GO:1901223, GO:1900087, GO:0060045, GO:0051005, GO:0050728, GO:0045787, GO:0042632, GO:0035278, GO:0035195, GO:0035195, GO:0032682, GO:0030335, GO:0010719, GO:0010667, GO:0008284, negative regulation of cellular senescence, negative regulation of cardiac muscle cell differentiation, negative regulation of endothelial cell apoptotic process, positive regulation of cardiac muscle tissue regeneration, negative regulation of reactive oxygen species biosynthetic process, negative regulation of NIK/NF-kappaB signaling, positive regulation of G1/S transition of mitotic cell cycle, positive regulation of cardiac muscle cell proliferation, negative regulation of lipoprotein lipase activity, negative regulation of inflammatory response, positive regulation of cell cycle, cholesterol homeostasis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of chemokine production, positive regulation of cell migration, negative regulation of epithelial to mesenchymal transition, negative regulation of cardiac muscle cell apoptotic process, positive regulation of cell population proliferation, 18 7 20 11 25 11 8 15 16 ENSG00000207742 chr14 101052446 101052525 + MIR487A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 619555 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207743 chr14 101033755 101033836 + MIR495 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574453 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000352, GO:1905652, GO:1905564, GO:1905563, GO:1903671, GO:1903588, GO:1900087, GO:0090051, GO:0045602, GO:0035195, GO:0035195, negative regulation of endothelial cell apoptotic process, negative regulation of artery morphogenesis, positive regulation of vascular endothelial cell proliferation, negative regulation of vascular endothelial cell proliferation, negative regulation of sprouting angiogenesis, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of G1/S transition of mitotic cell cycle, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of endothelial cell differentiation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207744 chr2 176150303 176150412 + MIR10B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406903 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1903589, GO:0090050, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0030949, GO:0010884, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, positive regulation of vascular endothelial growth factor receptor signaling pathway, positive regulation of lipid storage, 0 0 0 0 0 0 0 0 0 ENSG00000207746 chr4 82753337 82753430 - MIR575 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693160 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207749 chr14 101023794 101023856 + MIR299 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407023 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035278, GO:0035195, miRNA mediated inhibition of translation, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207750 chr1 100281241 100281308 + MIR553 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693138 GO:0035195, gene silencing by miRNA, 0 1 0 1 0 3 0 1 0 ENSG00000207751 chr22 21652270 21670237 + AP000553.1 processed_transcript 0 0 0 0 0 2 2 0 0 ENSG00000207752 chr19 10817426 10817496 - MIR199A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406976 GO:0005615, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1905205, GO:1905203, GO:1905180, GO:1905049, GO:1904465, GO:1904046, GO:1903244, GO:1900747, GO:0090051, GO:0061766, GO:0061052, GO:0061051, GO:0061049, GO:0060045, GO:0060044, GO:0060043, GO:0051897, GO:0045766, GO:0045765, GO:0045019, GO:0035195, GO:0035195, GO:0035195, GO:0032686, GO:0032008, GO:0010989, GO:0010667, GO:0010595, GO:0010507, GO:0007204, GO:0002091, GO:0000320, positive regulation of connective tissue replacement, regulation of connective tissue replacement, positive regulation of cardiac muscle tissue regeneration, negative regulation of metallopeptidase activity, negative regulation of matrix metallopeptidase secretion, negative regulation of vascular endothelial growth factor production, positive regulation of cardiac muscle hypertrophy in response to stress, negative regulation of vascular endothelial growth factor signaling pathway, negative regulation of cell migration involved in sprouting angiogenesis, positive regulation of lung blood pressure, negative regulation of cell growth involved in cardiac muscle cell development, positive regulation of cell growth involved in cardiac muscle cell development, cell growth involved in cardiac muscle cell development, positive regulation of cardiac muscle cell proliferation, negative regulation of cardiac muscle cell proliferation, regulation of cardiac muscle cell proliferation, positive regulation of protein kinase B signaling, positive regulation of angiogenesis, regulation of angiogenesis, negative regulation of nitric oxide biosynthetic process, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of hepatocyte growth factor production, positive regulation of TOR signaling, negative regulation of low-density lipoprotein particle clearance, negative regulation of cardiac muscle cell apoptotic process, positive regulation of endothelial cell migration, negative regulation of autophagy, positive regulation of cytosolic calcium ion concentration, negative regulation of receptor internalization, re-entry into mitotic cell cycle, 5 6 5 2 2 4 1 2 4 ENSG00000207754 chr14 101046455 101046538 + MIR487B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 664616 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905652, GO:1905563, GO:1903671, GO:1903589, GO:0090050, GO:0035195, GO:0035195, negative regulation of artery morphogenesis, negative regulation of vascular endothelial cell proliferation, negative regulation of sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207755 chrX 134540508 134540607 - MIR450A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574505 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207756 chr5 36147892 36147988 - MIR580 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693165 GO:0035195, gene silencing by miRNA, 0 0 1 0 0 0 0 0 0 ENSG00000207757 chr7 100093768 100093847 - MIR93 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407050 GO:1903561, GO:0005615, GO:0005615, extracellular vesicle, extracellular space, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1904046, GO:1904046, GO:1900016, GO:0050709, GO:0035195, GO:0035195, GO:0035195, GO:0032717, GO:0030336, GO:0010629, GO:0008285, negative regulation of vascular endothelial growth factor production, negative regulation of vascular endothelial growth factor production, negative regulation of cytokine production involved in inflammatory response, negative regulation of protein secretion, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, negative regulation of cell migration, negative regulation of gene expression, negative regulation of cell population proliferation, 0 4 1 0 3 3 2 4 2 ENSG00000207758 chrX 50003148 50003238 + MIR532 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693124 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207759 chr1 198859044 198859153 - MIR181A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406995 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207761 chr14 101026785 101026864 + MIR329-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574408 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905652, GO:1905563, GO:1903671, GO:1900747, GO:0090051, GO:0038061, GO:0035195, GO:0035195, GO:0035195, negative regulation of artery morphogenesis, negative regulation of vascular endothelial cell proliferation, negative regulation of sprouting angiogenesis, negative regulation of vascular endothelial growth factor signaling pathway, negative regulation of cell migration involved in sprouting angiogenesis, NIK/NF-kappaB signaling, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207762 chr14 101027100 101027183 + MIR329-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574409 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207763 chr12 80832533 80832629 - MIR617 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693202 0 0 1 4 0 5 0 0 2 ENSG00000207766 chr15 41691585 41691678 + MIR626 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693211 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207767 chr19 53756741 53756830 + MIR516A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574498 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207768 chrX 50003503 50003588 + MIR188 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406964 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000774, GO:1903769, GO:0090051, GO:0035195, GO:0035195, positive regulation of cellular senescence, negative regulation of cell proliferation in bone marrow, negative regulation of cell migration involved in sprouting angiogenesis, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207769 chr6 45197674 45197770 - MIR586 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693171 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207771 chr7 30289794 30289890 + MIR550A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693133 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207773 chr19 45674928 45675024 + MIR642A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693227 GO:0035195, gene silencing by miRNA, 0 0 1 0 0 0 0 0 0 ENSG00000207775 chr6 18571784 18571880 + MIR548A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693125 0 0 0 0 0 0 0 0 0 ENSG00000207776 chr1 3560695 3560790 - MIR551A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693135 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207778 chr18 58451080 58451152 - MIR3591 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616357 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207779 chr3 160404588 160404685 + MIR15B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406949 GO:1903561, GO:0005615, GO:0005615, extracellular vesicle, extracellular space, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000134, GO:1905563, GO:1905205, GO:1905064, GO:1904046, GO:1903588, GO:1902992, GO:1902430, GO:1901223, GO:1901164, GO:0061045, GO:0050728, GO:0045930, GO:0045727, GO:0043537, GO:0043537, GO:0043524, GO:0043124, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0030512, GO:0016525, GO:0016525, GO:0008285, GO:0003300, GO:0001569, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular endothelial cell proliferation, positive regulation of connective tissue replacement, negative regulation of vascular associated smooth muscle cell differentiation, negative regulation of vascular endothelial growth factor production, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of amyloid precursor protein catabolic process, negative regulation of amyloid-beta formation, negative regulation of NIK/NF-kappaB signaling, negative regulation of trophoblast cell migration, negative regulation of wound healing, negative regulation of inflammatory response, negative regulation of mitotic cell cycle, positive regulation of translation, negative regulation of blood vessel endothelial cell migration, negative regulation of blood vessel endothelial cell migration, negative regulation of neuron apoptotic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of angiogenesis, negative regulation of angiogenesis, negative regulation of cell population proliferation, cardiac muscle hypertrophy, branching involved in blood vessel morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000207780 chr22 17980868 17980961 - MIR648 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693233 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207781 chr14 65471102 65471186 + MIR625 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693210 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207782 chr19 49500785 49500868 - MIR150 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406942 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905772, GO:1905562, GO:0090050, GO:0045603, GO:0035195, GO:0035195, positive regulation of mesodermal cell differentiation, regulation of vascular endothelial cell proliferation, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of endothelial cell differentiation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 1 0 0 0 0 ENSG00000207784 chrX 134541341 134541437 - MIR542 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 664617 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207785 chrX 50008431 50008514 + MIR500A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574502 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207788 chr19 53686469 53686555 + MIR519C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574466 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0035195, GO:0008150, gene silencing by miRNA, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000207789 chr12 57824609 57824692 - MIR26A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407016 GO:0035195, gene silencing by miRNA, 9 7 2 1 1 2 0 1 0 ENSG00000207797 chr18 35904818 35904926 - MIR187 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406963 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0071222, GO:0050728, GO:0035195, GO:0035195, cellular response to lipopolysaccharide, negative regulation of inflammatory response, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207798 chr2 55988950 55989059 - MIR216A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406998 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207799 chr19 53722166 53722255 + MIR520G miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574484 GO:1904046, GO:0035195, negative regulation of vascular endothelial growth factor production, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207800 chrX 138667711 138667793 - MIR504 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574507 GO:1904046, GO:0035195, GO:0035195, negative regulation of vascular endothelial growth factor production, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207802 chr20 60308474 60308567 + MIR646 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693231 1 1 3 0 2 0 1 0 0 ENSG00000207803 chr19 53731006 53731090 + MIR518A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574488 GO:0005575, cellular_component, GO:1903231, GO:0003674, mRNA binding involved in posttranscriptional gene silencing, molecular_function, GO:0035195, GO:0035195, GO:0008150, gene silencing by miRNA, gene silencing by miRNA, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000207804 chr8 99536636 99536730 - MIR599 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693184 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207805 chr11 2134134 2134209 - MIR483 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 619552 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1903588, GO:0090051, GO:0045599, GO:0035278, GO:0035195, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of fat cell differentiation, miRNA mediated inhibition of translation, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207807 chr4 8005301 8005381 - MIR95 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407052 0 0 0 0 0 0 0 0 0 ENSG00000207808 chr19 13836440 13836517 - MIR27A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407018 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, GO:1903231, GO:0003730, GO:0000976, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, transcription regulatory region sequence-specific DNA binding, GO:2000660, GO:1905598, GO:1905564, GO:1904707, GO:1903589, GO:1900131, GO:0090370, GO:0090050, GO:0071560, GO:0070374, GO:0070374, GO:0050868, GO:0045893, GO:0045669, GO:0045599, GO:0038061, GO:0035924, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032088, GO:0010989, GO:0010872, GO:0010629, GO:0010629, GO:0010629, negative regulation of interleukin-1-mediated signaling pathway, negative regulation of low-density lipoprotein receptor activity, positive regulation of vascular endothelial cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of lipid binding, negative regulation of cholesterol efflux, positive regulation of cell migration involved in sprouting angiogenesis, cellular response to transforming growth factor beta stimulus, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of T cell activation, positive regulation of transcription, DNA-templated, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, NIK/NF-kappaB signaling, cellular response to vascular endothelial growth factor stimulus, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of NF-kappaB transcription factor activity, negative regulation of low-density lipoprotein particle clearance, regulation of cholesterol esterification, negative regulation of gene expression, negative regulation of gene expression, negative regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000207810 chr19 53679940 53680023 + MIR519E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574463 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207811 chr11 111512938 111513021 + MIR34B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407041 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905205, GO:1903671, GO:1903244, GO:0051898, GO:0035195, GO:0035195, positive regulation of connective tissue replacement, negative regulation of sprouting angiogenesis, positive regulation of cardiac muscle hypertrophy in response to stress, negative regulation of protein kinase B signaling, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207813 chr10 51299573 51299655 + MIR605 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693190 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207814 chr9 120244979 120245050 - MIR147A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406939 GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1904046, GO:0042985, GO:0035195, GO:0035195, GO:0035195, negative regulation of vascular endothelial growth factor production, negative regulation of amyloid precursor protein biosynthetic process, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 1 0 0 0 0 0 ENSG00000207815 chr3 15873771 15873849 + MIR563 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693148 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207816 chr8 64379149 64379257 + MIR124-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406908 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207818 chrX 152394412 152394492 - MIR105-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406898 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207820 chrX 74287104 74287209 - MIR545 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 664614 0 0 0 0 0 0 0 0 0 ENSG00000207821 chr19 19435063 19435158 + MIR640 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693225 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0043537, GO:0035195, GO:0035195, GO:0016525, GO:0010628, negative regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000207825 chr19 53695213 53695293 + MIR519B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574469 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207826 chr8 1817231 1817307 + MIR596 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693181 0 0 0 0 0 0 0 0 0 ENSG00000207827 chr6 71403551 71403621 - MIR30A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The encoded miRNA is one of five members of the miR-30 family of highly conserved miRNAs and participates in many cellular processes. It has additionally been implicated in the development of several types of cancer. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2017]. 407029 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0045766, GO:0043536, GO:0035195, GO:0035195, GO:0035195, GO:0007179, positive regulation of angiogenesis, positive regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, transforming growth factor beta receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000207837 chr19 53721076 53721142 + MIR517B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574483 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207838 chr19 53741313 53741407 + MIR517C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574492 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207839 chr17 17813836 17813931 - MIR33B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693120 GO:0090370, GO:0042632, GO:0035195, GO:0035195, GO:0010983, GO:0010628, negative regulation of cholesterol efflux, cholesterol homeostasis, gene silencing by miRNA, gene silencing by miRNA, positive regulation of high-density lipoprotein particle clearance, positive regulation of gene expression, 0 1 0 4 1 13 7 3 7 ENSG00000207861 chr19 53742512 53742599 + MIR520H miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574493 GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1904046, GO:1900087, GO:0035195, GO:0035195, GO:0035195, GO:0008284, negative regulation of vascular endothelial growth factor production, positive regulation of G1/S transition of mitotic cell cycle, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207862 chr19 53702737 53702819 + MIR518B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574474 GO:0005575, cellular_component, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0030857, GO:0030336, GO:0008285, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of epithelial cell differentiation, negative regulation of cell migration, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207863 chr21 16590237 16590325 + MIR125B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406912 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207864 chr9 95085445 95085541 + MIR27B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407019 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, GO:1903231, GO:1903231, GO:0003730, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, mRNA 3'-UTR binding, GO:2001244, GO:1905601, GO:1905596, GO:1905111, GO:1904707, GO:1903720, GO:1903589, GO:1903589, GO:1901223, GO:1900131, GO:0106090, GO:0090370, GO:0090322, GO:0090050, GO:0090050, GO:0071864, GO:0070374, GO:0061766, GO:0060354, GO:0051001, GO:0045766, GO:0045599, GO:0045599, GO:0043280, GO:0042632, GO:0038061, GO:0035924, GO:0035924, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0032769, GO:0032760, GO:0032691, GO:0010989, GO:0010872, GO:0010804, GO:0010629, GO:0010629, GO:0010628, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of receptor-mediated endocytosis involved in cholesterol transport, negative regulation of low-density lipoprotein particle receptor binding, positive regulation of pulmonary blood vessel remodeling, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of I-kappaB phosphorylation, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of NIK/NF-kappaB signaling, negative regulation of lipid binding, positive regulation of cell adhesion involved in sprouting angiogenesis, negative regulation of cholesterol efflux, regulation of superoxide metabolic process, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell proliferation in bone marrow, positive regulation of ERK1 and ERK2 cascade, positive regulation of lung blood pressure, negative regulation of cell adhesion molecule production, negative regulation of nitric-oxide synthase activity, positive regulation of angiogenesis, negative regulation of fat cell differentiation, negative regulation of fat cell differentiation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, cholesterol homeostasis, NIK/NF-kappaB signaling, cellular response to vascular endothelial growth factor stimulus, cellular response to vascular endothelial growth factor stimulus, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of monooxygenase activity, positive regulation of tumor necrosis factor production, negative regulation of interleukin-1 beta production, negative regulation of low-density lipoprotein particle clearance, regulation of cholesterol esterification, negative regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000207866 chrX 147281943 147282030 - MIR514A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574517 0 0 0 0 0 0 0 0 0 ENSG00000207867 chrX 147284641 147284728 - MIR514A3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574518 0 0 0 0 0 0 0 0 0 ENSG00000207868 chrX 147279247 147279344 - MIR514A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574516 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207869 chr19 53674197 53674320 + MIR498 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574460 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207870 chrX 45746157 45746266 - MIR221 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407006 GO:1903561, GO:0005615, GO:0005615, extracellular vesicle, extracellular space, extracellular space, GO:1903231, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:2000780, GO:1905176, GO:1905064, GO:1905046, GO:1904995, GO:1904754, GO:1904707, GO:1904707, GO:1903691, GO:1903671, GO:1903122, GO:1903122, GO:1902034, GO:1900149, GO:1900087, GO:1900016, GO:0090051, GO:0070374, GO:0070373, GO:0060546, GO:0060354, GO:0051897, GO:0050728, GO:0048680, GO:0048008, GO:0046427, GO:0045648, GO:0044828, GO:0043536, GO:0043066, GO:0043066, GO:0043065, GO:0042531, GO:0035278, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0034115, GO:0032705, GO:0010718, GO:0010634, GO:0009749, GO:0008285, negative regulation of double-strand break repair, positive regulation of vascular associated smooth muscle cell dedifferentiation, negative regulation of vascular associated smooth muscle cell differentiation, positive regulation of Schwann cell proliferation involved in axon regeneration, negative regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of wound healing, spreading of epidermal cells, negative regulation of sprouting angiogenesis, negative regulation of TRAIL-activated apoptotic signaling pathway, negative regulation of TRAIL-activated apoptotic signaling pathway, negative regulation of hematopoietic stem cell proliferation, positive regulation of Schwann cell migration, positive regulation of G1/S transition of mitotic cell cycle, negative regulation of cytokine production involved in inflammatory response, negative regulation of cell migration involved in sprouting angiogenesis, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, negative regulation of necroptotic process, negative regulation of cell adhesion molecule production, positive regulation of protein kinase B signaling, negative regulation of inflammatory response, positive regulation of axon regeneration, platelet-derived growth factor receptor signaling pathway, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of erythrocyte differentiation, negative regulation by host of viral genome replication, positive regulation of blood vessel endothelial cell migration, negative regulation of apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, miRNA mediated inhibition of translation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of heterotypic cell-cell adhesion, negative regulation of interleukin-21 production, positive regulation of epithelial to mesenchymal transition, positive regulation of epithelial cell migration, response to glucose, negative regulation of cell population proliferation, 0 0 3 6 4 9 0 3 16 ENSG00000207871 chrX 147199044 147199127 - MIR513B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313822 0 0 0 0 0 0 0 0 0 ENSG00000207873 chrX 147213463 147213591 - MIR513A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574509 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000207874 chr11 28056815 28056910 + MIR610 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693195 0 0 0 0 0 0 0 0 0 ENSG00000207922 chr3 50173326 50173419 + MIR566 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000207923 chr2 47377675 47377770 + MIR559 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693144 0 0 0 0 0 0 0 0 0 ENSG00000207924 chr12 53991738 53991847 + MIR196A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406973 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207925 chr19 53725442 53725526 + MIR516B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574485 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207926 chr3 52294219 52294308 - MIR135A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406925 GO:1903561, extracellular vesicle, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1903882, GO:1900016, GO:0150152, GO:0035195, GO:0035195, GO:0032700, GO:0032700, negative regulation of interleukin-17-mediated signaling pathway, negative regulation of cytokine production involved in inflammatory response, negative regulation of interleukin-17A production, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-17 production, negative regulation of interleukin-17 production, 2 2 6 1 2 5 2 2 0 ENSG00000207927 chr4 112648183 112648251 - MIR302A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407028 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0090370, GO:0071404, GO:0042632, GO:0035195, GO:0035195, GO:0010983, negative regulation of cholesterol efflux, cellular response to low-density lipoprotein particle stimulus, cholesterol homeostasis, gene silencing by miRNA, gene silencing by miRNA, positive regulation of high-density lipoprotein particle clearance, 1 0 2 0 0 0 0 1 0 ENSG00000207930 chr10 24275685 24275781 + MIR603 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693188 0 0 0 0 0 0 0 0 0 ENSG00000207931 chr4 114656759 114656854 + MIR577 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693162 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207932 chr22 41900944 41901012 + MIR33A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407039 GO:1903231, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, RNA polymerase II complex binding, GO:1903063, GO:0120190, GO:0090370, GO:0090370, GO:0070858, GO:0070328, GO:0045717, GO:0042593, GO:0038027, GO:0035195, GO:0035195, GO:0035195, GO:0010983, GO:0010629, negative regulation of reverse cholesterol transport, negative regulation of bile acid secretion, negative regulation of cholesterol efflux, negative regulation of cholesterol efflux, negative regulation of bile acid biosynthetic process, triglyceride homeostasis, negative regulation of fatty acid biosynthetic process, glucose homeostasis, apolipoprotein A-I-mediated signaling pathway, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, positive regulation of high-density lipoprotein particle clearance, negative regulation of gene expression, 0 0 0 0 0 0 0 0 2 ENSG00000207933 chr1 156420341 156420429 - MIR9-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407046 GO:0070062, GO:0005737, GO:0005634, extracellular exosome, cytoplasm, nucleus, GO:1903231, GO:0008035, GO:0003730, GO:0003727, mRNA binding involved in posttranscriptional gene silencing, high-density lipoprotein particle binding, mRNA 3'-UTR binding, single-stranded RNA binding, GO:0051055, GO:0046426, GO:0045668, GO:0035278, GO:0035195, GO:0035195, GO:0033689, GO:0031047, GO:0030336, GO:0008285, GO:0007162, negative regulation of lipid biosynthetic process, negative regulation of receptor signaling pathway via JAK-STAT, negative regulation of osteoblast differentiation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of osteoblast proliferation, gene silencing by RNA, negative regulation of cell migration, negative regulation of cell population proliferation, negative regulation of cell adhesion, 0 0 0 0 0 0 1 0 0 ENSG00000207934 chr14 101040219 101040299 + MIR654 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724024 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207935 chr9 70809975 70810084 - MIR204 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406987 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000727, GO:1901223, GO:0110023, GO:0070555, GO:0060045, GO:0050728, GO:0043537, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0032720, GO:0032717, GO:0032715, GO:0032691, GO:0031393, GO:0030336, GO:0008285, positive regulation of cardiac muscle cell differentiation, negative regulation of NIK/NF-kappaB signaling, negative regulation of cardiac muscle myoblast proliferation, response to interleukin-1, positive regulation of cardiac muscle cell proliferation, negative regulation of inflammatory response, negative regulation of blood vessel endothelial cell migration, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, negative regulation of prostaglandin biosynthetic process, negative regulation of cell migration, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207938 chr10 17845107 17845193 + MIR511 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574445 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0045666, GO:0035195, GO:0035195, GO:0010628, positive regulation of neuron differentiation, gene silencing by miRNA, gene silencing by miRNA, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000207940 chr3 112112801 112112898 + MIR567 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693152 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207941 chr1 34669599 34669694 - MIR552 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693137 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207942 chr14 100884702 100884783 + MIR136 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406927 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1900016, GO:0050778, GO:0035195, GO:0035195, GO:0032700, negative regulation of cytokine production involved in inflammatory response, positive regulation of immune response, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-17 production, 0 0 0 0 0 0 0 0 0 ENSG00000207943 chr17 66787072 66787168 + MIR634 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693219 0 0 0 0 0 0 0 0 0 ENSG00000207944 chr4 38868032 38868127 + MIR574 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693159 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 2 0 0 0 0 0 0 0 ENSG00000207946 chr19 53736845 53736934 + MIR516B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574490 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207947 chr17 48037161 48037247 - MIR152 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406943 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1905563, GO:1904684, GO:1900016, GO:0090272, GO:0071158, GO:0043537, GO:0043065, GO:0035195, GO:0035195, GO:0010804, GO:0008285, negative regulation of vascular endothelial cell proliferation, negative regulation of metalloendopeptidase activity, negative regulation of cytokine production involved in inflammatory response, negative regulation of fibroblast growth factor production, positive regulation of cell cycle arrest, negative regulation of blood vessel endothelial cell migration, positive regulation of apoptotic process, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207948 chr16 67202321 67202395 - MIR328 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442901 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905001, GO:1904878, GO:0035195, GO:0035195, GO:0002027, negative regulation of membrane repolarization during atrial cardiac muscle cell action potential, negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, gene silencing by miRNA, gene silencing by miRNA, regulation of heart rate, 2 0 1 4 4 0 1 2 0 ENSG00000207951 chr2 188297492 188297588 + MIR561 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693146 0 0 0 0 0 0 0 0 0 ENSG00000207952 chr14 31014646 31014742 - MIR624 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693209 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207954 chr3 44114212 44114310 + MIR138-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406929 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000134, GO:1905460, GO:1903753, GO:1903671, GO:1900045, GO:0060761, GO:0051897, GO:0051497, GO:0051001, GO:0050728, GO:0045944, GO:0045668, GO:0044854, GO:0043553, GO:0035278, GO:0035195, GO:0035195, GO:0033689, GO:0032088, GO:0030336, GO:0010629, GO:0008285, GO:0007162, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular associated smooth muscle cell apoptotic process, negative regulation of p38MAPK cascade, negative regulation of sprouting angiogenesis, negative regulation of protein K63-linked ubiquitination, negative regulation of response to cytokine stimulus, positive regulation of protein kinase B signaling, negative regulation of stress fiber assembly, negative regulation of nitric-oxide synthase activity, negative regulation of inflammatory response, positive regulation of transcription by RNA polymerase II, negative regulation of osteoblast differentiation, plasma membrane raft assembly, negative regulation of phosphatidylinositol 3-kinase activity, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of osteoblast proliferation, negative regulation of NF-kappaB transcription factor activity, negative regulation of cell migration, negative regulation of gene expression, negative regulation of cell population proliferation, negative regulation of cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000207955 chr9 128392007 128393510 - AL359091.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000207956 chr5 32394378 32394475 - MIR579 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693164 0 0 0 0 0 0 1 0 0 ENSG00000207957 chrX 152392219 152392299 - MIR105-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406897 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1903347, GO:0071726, GO:0035195, GO:0035195, GO:0032720, GO:0032715, GO:0009617, GO:0002862, negative regulation of bicellular tight junction assembly, cellular response to diacyl bacterial lipopeptide, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, response to bacterium, negative regulation of inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000207959 chr14 101066724 101066801 + MIR656 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724026 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207960 chr7 157574336 157574422 - MIR153-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406945 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207961 chr14 101060573 101060674 + MIR496 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574454 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207962 chr1 40757284 40757372 + MIR30C1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407031 GO:1903561, GO:0070062, GO:0005615, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, extracellular space, GO:1903231, GO:0008035, mRNA binding involved in posttranscriptional gene silencing, high-density lipoprotein particle binding, GO:1905884, GO:1903901, GO:1903671, GO:0110114, GO:0098586, GO:0071072, GO:0050709, GO:0045717, GO:0045541, GO:0042632, GO:0035195, GO:0035195, GO:0010868, negative regulation of triglyceride transport, negative regulation of viral life cycle, negative regulation of sprouting angiogenesis, negative regulation of lipid transporter activity, cellular response to virus, negative regulation of phospholipid biosynthetic process, negative regulation of protein secretion, negative regulation of fatty acid biosynthetic process, negative regulation of cholesterol biosynthetic process, cholesterol homeostasis, gene silencing by miRNA, gene silencing by miRNA, negative regulation of triglyceride biosynthetic process, 0 1 1 1 0 5 0 0 0 ENSG00000207963 chr3 171106664 171106759 - MIR569 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693154 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207965 chr15 70079372 70079468 - MIR629 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693214 0 0 0 0 5 4 0 0 0 ENSG00000207967 chr12 116148560 116148654 - MIR620 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693205 0 0 0 2 0 0 2 1 0 ENSG00000207969 chrX 147230984 147231077 - MIR507 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574512 0 0 0 0 0 0 0 0 0 ENSG00000207970 chrX 50013241 50013337 + MIR660 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724030 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207971 chr11 122099757 122099844 - MIR125B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406911 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905065, GO:1904893, GO:1902949, GO:0071354, GO:0071305, GO:0070104, GO:0060252, GO:0045656, GO:0045618, GO:0043525, GO:0038061, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032720, GO:0016525, GO:0010839, GO:0001934, positive regulation of vascular associated smooth muscle cell differentiation, negative regulation of receptor signaling pathway via STAT, positive regulation of tau-protein kinase activity, cellular response to interleukin-6, cellular response to vitamin D, negative regulation of interleukin-6-mediated signaling pathway, positive regulation of glial cell proliferation, negative regulation of monocyte differentiation, positive regulation of keratinocyte differentiation, positive regulation of neuron apoptotic process, NIK/NF-kappaB signaling, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of angiogenesis, negative regulation of keratinocyte proliferation, positive regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000207972 chr19 10718404 10718503 + MIR638 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693223 GO:0070062, GO:0005737, extracellular exosome, cytoplasm, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000134, GO:1904753, GO:1904706, GO:0048008, GO:0035195, GO:0035195, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, platelet-derived growth factor receptor signaling pathway, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207973 chr7 5495819 5495917 - MIR589 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693174 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 5 3 12 0 5 2 9 5 2 ENSG00000207974 chr1 168375524 168375621 + MIR557 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693142 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207975 chr1 198858873 198858982 - MIR181B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406955 GO:0005615, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:2000271, GO:1900745, GO:1900425, GO:0120041, GO:0110015, GO:0071356, GO:0061889, GO:0050765, GO:0050729, GO:0050728, GO:0045824, GO:0045766, GO:0045603, GO:0045429, GO:0035278, GO:0035195, GO:0035195, GO:0034144, GO:0030335, GO:0010917, GO:0010839, GO:0009968, positive regulation of fibroblast apoptotic process, positive regulation of p38MAPK cascade, negative regulation of defense response to bacterium, positive regulation of macrophage proliferation, positive regulation of elastin catabolic process, cellular response to tumor necrosis factor, negative regulation of astrocyte activation, negative regulation of phagocytosis, positive regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of innate immune response, positive regulation of angiogenesis, positive regulation of endothelial cell differentiation, positive regulation of nitric oxide biosynthetic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of toll-like receptor 4 signaling pathway, positive regulation of cell migration, negative regulation of mitochondrial membrane potential, negative regulation of keratinocyte proliferation, negative regulation of signal transduction, 1 0 1 0 0 0 0 0 0 ENSG00000207976 chr10 96828669 96828764 - MIR607 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693192 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207978 chr14 101059755 101059838 + MIR154 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406946 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0060355, GO:0043433, GO:0035195, GO:0035195, GO:0010629, GO:0010628, positive regulation of cell adhesion molecule production, negative regulation of DNA-binding transcription factor activity, gene silencing by miRNA, gene silencing by miRNA, negative regulation of gene expression, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000207979 chr19 53754018 53754102 + MIR527 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574497 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207980 chr19 13836587 13836659 - MIR23A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407010 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1903670, GO:1903589, GO:0090050, GO:0070374, GO:0061049, GO:0043116, GO:0043065, GO:0035924, GO:0035195, GO:0035195, GO:0035195, GO:0008285, regulation of sprouting angiogenesis, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of ERK1 and ERK2 cascade, cell growth involved in cardiac muscle cell development, negative regulation of vascular permeability, positive regulation of apoptotic process, cellular response to vascular endothelial growth factor stimulus, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207981 chr19 53713347 53713434 + MIR519D miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574480 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1900087, GO:1900087, GO:0035195, GO:0035195, GO:0008284, GO:0008284, positive regulation of G1/S transition of mitotic cell cycle, positive regulation of G1/S transition of mitotic cell cycle, gene silencing by miRNA, gene silencing by miRNA, positive regulation of cell population proliferation, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000207982 chr6 119069047 119069143 - MIR548B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693128 0 0 0 0 0 0 0 0 0 ENSG00000207983 chr12 12764649 12764743 + MIR613 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693198 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, gene silencing by miRNA, 0 1 0 0 0 0 0 0 0 ENSG00000207984 chrX 147225826 147225952 - MIR513A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574510 0 0 0 0 0 0 0 0 0 ENSG00000207987 chr19 53729838 53729925 + MIR518E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574487 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0035195, GO:0008150, gene silencing by miRNA, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000207988 chr4 109488698 109488795 + MIR576 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693161 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 2 2 0 0 0 0 0 2 ENSG00000207989 chr14 100869060 100869148 + MIR493 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574450 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000207990 chr7 129770383 129770492 - MIR182 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406958 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905175, GO:1904753, GO:1904706, GO:1904036, GO:1901726, GO:1901224, GO:0071397, GO:0051006, GO:0045723, GO:0045542, GO:0042632, GO:0035278, GO:0035195, GO:0035195, GO:0030335, GO:0010628, GO:0001819, negative regulation of vascular associated smooth muscle cell dedifferentiation, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of epithelial cell apoptotic process, negative regulation of histone deacetylase activity, positive regulation of NIK/NF-kappaB signaling, cellular response to cholesterol, positive regulation of lipoprotein lipase activity, positive regulation of fatty acid biosynthetic process, positive regulation of cholesterol biosynthetic process, cholesterol homeostasis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, positive regulation of cell migration, positive regulation of gene expression, positive regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000207991 chr9 123402525 123402603 - MIR601 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693186 GO:0035195, gene silencing by miRNA, 0 0 0 1 0 0 5 1 2 ENSG00000207992 chr19 53752397 53752481 + MIR519A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574496 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207993 chr14 101054687 101054759 + MIR134 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406924 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904046, GO:0110023, GO:0045930, GO:0035278, GO:0035195, GO:0035195, negative regulation of vascular endothelial growth factor production, negative regulation of cardiac muscle myoblast proliferation, negative regulation of mitotic cell cycle, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207994 chr11 122152229 122152308 - MIR100 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406892 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905064, GO:0035278, GO:0035195, GO:0032717, negative regulation of vascular associated smooth muscle cell differentiation, miRNA mediated inhibition of translation, gene silencing by miRNA, negative regulation of interleukin-8 production, 0 0 0 0 0 0 0 0 0 ENSG00000207995 chrX 77005404 77005501 - MIR325 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442899 0 0 0 0 0 0 0 0 0 ENSG00000207996 chr17 59151136 59151221 - MIR301A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407027 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904707, GO:0035195, positive regulation of vascular associated smooth muscle cell proliferation, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000207997 chr20 34466325 34466418 + MIR644A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693229 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0042985, GO:0035195, GO:0035195, negative regulation of amyloid precursor protein biosynthetic process, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 8 0 4 3 ENSG00000208000 chrX 147260532 147260625 - MIR509-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574514 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0060045, GO:0035195, GO:0010629, GO:0010628, positive regulation of cardiac muscle cell proliferation, gene silencing by miRNA, negative regulation of gene expression, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000208001 chr14 100881007 100881120 + MIR431 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574038 GO:0005615, extracellular space, GO:1905608, GO:0048680, GO:0035195, GO:0010976, positive regulation of presynapse assembly, positive regulation of axon regeneration, gene silencing by miRNA, positive regulation of neuron projection development, 0 0 0 0 0 0 0 0 0 ENSG00000208002 chr19 52281797 52281893 + MIR643 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693228 GO:0035195, gene silencing by miRNA, 0 3 2 0 1 0 1 0 0 ENSG00000208003 chr15 80841978 80842073 - MIR549A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693132 GO:0035195, gene silencing by miRNA, 0 0 0 1 0 0 0 0 0 ENSG00000208004 chr14 101056219 101056300 + MIR323B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574410 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000208005 chrX 134546328 134546398 - MIR503 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574506 GO:0072563, endothelial microparticle, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905563, GO:1904753, GO:1904706, GO:1904706, GO:1903589, GO:1903588, GO:1902807, GO:0090051, GO:0070373, GO:0070317, GO:0043537, GO:0040037, GO:0035278, GO:0035195, GO:0035195, GO:0016525, GO:0010812, GO:0010596, GO:0001937, negative regulation of vascular endothelial cell proliferation, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell cycle G1/S phase transition, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of ERK1 and ERK2 cascade, negative regulation of G0 to G1 transition, negative regulation of blood vessel endothelial cell migration, negative regulation of fibroblast growth factor receptor signaling pathway, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, negative regulation of cell-substrate adhesion, negative regulation of endothelial cell migration, negative regulation of endothelial cell proliferation, 0 0 0 2 0 0 0 0 0 ENSG00000208006 chr13 50048973 50049061 - MIR16-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406950 GO:1903561, GO:0070062, GO:0005615, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, extracellular space, GO:1903231, GO:1903231, GO:0003730, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, RNA polymerase II complex binding, GO:2001244, GO:2000545, GO:2000134, GO:2000134, GO:2000134, GO:1905205, GO:1904858, GO:1904848, GO:1904046, GO:1904046, GO:1903588, GO:1902461, GO:1901164, GO:1900747, GO:1900747, GO:1900016, GO:0110081, GO:0090051, GO:0090051, GO:0071333, GO:0050728, GO:0045930, GO:0045727, GO:0043124, GO:0043065, GO:0040037, GO:0035278, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032088, GO:0016525, GO:0010666, GO:0008285, GO:0001937, GO:0001569, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of endothelial cell chemotaxis to fibroblast growth factor, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of connective tissue replacement, negative regulation of endothelial cell chemotaxis to vascular endothelial growth factor, negative regulation of cell chemotaxis to fibroblast growth factor, negative regulation of vascular endothelial growth factor production, negative regulation of vascular endothelial growth factor production, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of mesenchymal stem cell proliferation, negative regulation of trophoblast cell migration, negative regulation of vascular endothelial growth factor signaling pathway, negative regulation of vascular endothelial growth factor signaling pathway, negative regulation of cytokine production involved in inflammatory response, negative regulation of placenta blood vessel development, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to glucose stimulus, negative regulation of inflammatory response, negative regulation of mitotic cell cycle, positive regulation of translation, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, negative regulation of fibroblast growth factor receptor signaling pathway, miRNA mediated inhibition of translation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of NF-kappaB transcription factor activity, negative regulation of angiogenesis, positive regulation of cardiac muscle cell apoptotic process, negative regulation of cell population proliferation, negative regulation of endothelial cell proliferation, branching involved in blood vessel morphogenesis, 0 2 2 0 0 0 0 0 0 ENSG00000208008 chr19 51693254 51693339 + MIR125A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406910 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, GO:0003730, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, RNA polymerase II complex binding, GO:2000353, GO:1904995, GO:1904893, GO:1904046, GO:1903672, GO:1902564, GO:1900016, GO:0072125, GO:0070104, GO:0043433, GO:0042532, GO:0035195, GO:0035195, GO:0035195, GO:0032715, GO:0032699, GO:0016525, GO:0010629, GO:0010628, GO:0001960, positive regulation of endothelial cell apoptotic process, negative regulation of leukocyte adhesion to vascular endothelial cell, negative regulation of receptor signaling pathway via STAT, negative regulation of vascular endothelial growth factor production, positive regulation of sprouting angiogenesis, negative regulation of neutrophil activation, negative regulation of cytokine production involved in inflammatory response, negative regulation of glomerular mesangial cell proliferation, negative regulation of interleukin-6-mediated signaling pathway, negative regulation of DNA-binding transcription factor activity, negative regulation of tyrosine phosphorylation of STAT protein, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-6 production, negative regulation of interleukin-16 production, negative regulation of angiogenesis, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cytokine-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000208009 chr11 57641198 57641286 + MIR130A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406919 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1905564, GO:1904707, GO:1903900, GO:0098586, GO:0045766, GO:0043031, GO:0038061, GO:0035195, GO:0035195, GO:0032720, positive regulation of vascular endothelial cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, regulation of viral life cycle, cellular response to virus, positive regulation of angiogenesis, negative regulation of macrophage activation, NIK/NF-kappaB signaling, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, 0 1 0 0 0 0 0 0 0 ENSG00000208012 chrX 53557192 53557274 - MIRLET7F2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406889 GO:0035195, gene silencing by miRNA, 1 0 0 0 0 0 0 0 0 ENSG00000208013 chrX 110055329 110055426 + MIR652 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724022 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 1 1 0 0 0 0 0 0 ENSG00000208014 chr7 93482760 93482855 - MIR653 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724023 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000208015 chrX 50008964 50009028 + MIR362 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574030 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000134, GO:1904753, GO:1904706, GO:0035195, GO:0035195, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000208017 chr16 69933081 69933180 + MIR140 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406932 GO:0005615, extracellular space, GO:1903231, GO:1903231, GO:0003730, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, RNA polymerase II complex binding, GO:1905932, GO:1905461, GO:1904753, GO:1904706, GO:1904706, GO:1904646, GO:1904046, GO:1900016, GO:0071456, GO:0071222, GO:0042742, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0034144, GO:0032720, GO:0032715, GO:0030513, GO:0010628, positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching, positive regulation of vascular associated smooth muscle cell apoptotic process, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, cellular response to amyloid-beta, negative regulation of vascular endothelial growth factor production, negative regulation of cytokine production involved in inflammatory response, cellular response to hypoxia, cellular response to lipopolysaccharide, defense response to bacterium, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of toll-like receptor 4 signaling pathway, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, positive regulation of BMP signaling pathway, positive regulation of gene expression, 0 1 0 0 0 0 0 0 0 ENSG00000208018 chr20 50585786 50585879 + MIR645 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693230 1 0 0 2 2 0 0 0 0 ENSG00000208022 chr12 80935736 80935833 - MIR618 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693203 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000208023 chr22 20033139 20033220 + MIR185 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406961 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:2001216, GO:1905598, GO:1904706, GO:0106108, GO:0071397, GO:0070373, GO:0045541, GO:0042632, GO:0035195, GO:0035195, GO:0035195, GO:0016525, GO:0010989, GO:0010989, GO:0010744, GO:0010629, negative regulation of hydroxymethylglutaryl-CoA reductase (NADPH) activity, negative regulation of low-density lipoprotein receptor activity, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of (R)-mevalonic acid biosynthetic process, cellular response to cholesterol, negative regulation of ERK1 and ERK2 cascade, negative regulation of cholesterol biosynthetic process, cholesterol homeostasis, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, negative regulation of low-density lipoprotein particle clearance, negative regulation of low-density lipoprotein particle clearance, positive regulation of macrophage derived foam cell differentiation, negative regulation of gene expression, 0 0 0 1 0 0 0 0 0 ENSG00000208024 chr1 172144535 172144644 - MIR199A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406977 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000208025 chr7 96219662 96219756 - MIR591 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693176 0 0 1 0 0 0 0 0 0 ENSG00000208027 chr14 101055419 101055491 + MIR485 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574436 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0060546, GO:0035195, GO:0035195, negative regulation of necroptotic process, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000208028 chr12 57519163 57519259 - MIR616 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693201 GO:0035195, gene silencing by miRNA, 24 56 50 1639 1883 1909 1459 977 1496 ENSG00000208032 chr8 104484369 104484465 - MIR548A3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693127 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000208033 chr10 104218789 104218883 - MIR609 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693194 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000208036 chr7 100093993 100094074 - MIR106B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406900 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000351, GO:1904646, GO:0071456, GO:0050732, GO:0035278, GO:0035195, GO:0035195, GO:0032717, GO:0016525, GO:0010667, GO:0010629, regulation of endothelial cell apoptotic process, cellular response to amyloid-beta, cellular response to hypoxia, negative regulation of peptidyl-tyrosine phosphorylation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, negative regulation of angiogenesis, negative regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, 0 5 1 4 3 0 3 0 2 ENSG00000208037 chr8 22244962 22245043 - MIR320A miRNA 0 0 0 0 0 0 0 0 0 ENSG00000208308 chr2 135136628 135136755 + SNORA40B snoRNA 109616967 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 2 1 0 2 0 1 0 0 ENSG00000208772 chr2 86135870 86136006 + SNORD94 snoRNA 692225 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 1 0 0 1 2 0 ENSG00000208797 chr4 151103827 151103891 + SNORD73A snoRNA 8944 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000208839 chrX 114630797 114630924 + SNORA35 snoRNA 677816 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000208883 chrX 110224985 110225063 - SNORD96B snoRNA 692226 0 0 0 0 0 0 0 1 0 ENSG00000208892 chr12 132031224 132031359 + SNORA49 snoRNA 677829 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000209042 chr20 49278940 49279028 + SNORD12C snoRNA 2 11 12 6 17 6 8 1 5 ENSG00000209082 chrM 3230 3304 + MT-TL1 Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000209480 chr22 39313819 39313911 - SNORD83B snoRNA Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]. 116938 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000209482 chr22 39315213 39315307 - SNORD83A snoRNA Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]. 116937 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 2 0 8 0 3 0 0 ENSG00000209582 chr17 7574713 7574847 + SNORA48 snoRNA 652965 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000209645 chr19 10107651 10107735 + SNORD105 snoRNA 692229 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000209702 chr19 12706449 12706518 - SNORD41 snoRNA 26810 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 0 0 0 0 0 0 ENSG00000210049 chrM 577 647 + MT-TF Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210077 chrM 1602 1670 + MT-TV Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210082 chrM 1671 3229 + MT-RNR2 Mt_rRNA 90971 49343 68419 176880 114748 128397 137604 71821 95017 ENSG00000210100 chrM 4263 4331 + MT-TI Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210107 chrM 4329 4400 - MT-TQ Mt_tRNA 34 22 28 73 37 36 87 22 15 ENSG00000210112 chrM 4402 4469 + MT-TM Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210117 chrM 5512 5579 + MT-TW Mt_tRNA 4 5 3 4 2 0 4 8 0 ENSG00000210127 chrM 5587 5655 - MT-TA Mt_tRNA 6 7 2 1 4 0 5 3 2 ENSG00000210135 chrM 5657 5729 - MT-TN Mt_tRNA 0 1 1 0 0 1 2 0 2 ENSG00000210140 chrM 5761 5826 - MT-TC Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210144 chrM 5826 5891 - MT-TY Mt_tRNA 19 38 56 23 14 0 16 17 7 ENSG00000210151 chrM 7446 7514 - MT-TS1 Mt_tRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 113219467 GO:0030533, triplet codon-amino acid adaptor activity, GO:0006412, translation, 35 35 43 71 71 65 48 39 50 ENSG00000210154 chrM 7518 7585 + MT-TD Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210156 chrM 8295 8364 + MT-TK Mt_tRNA 0 0 0 1 0 0 0 0 0 ENSG00000210164 chrM 9991 10058 + MT-TG Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210174 chrM 10405 10469 + MT-TR Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210176 chrM 12138 12206 + MT-TH Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210181 chr3 36968191 36968316 - RNU6ATAC4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000210184 chrM 12207 12265 + MT-TS2 Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210191 chrM 12266 12336 + MT-TL2 Mt_tRNA 0 0 0 0 0 0 0 0 0 ENSG00000210194 chrM 14674 14742 - MT-TE Mt_tRNA 9 9 11 4 1 3 4 2 2 ENSG00000210195 chrM 15888 15953 + MT-TT Mt_tRNA 4 5 1 0 0 0 0 1 4 ENSG00000210196 chrM 15956 16023 - MT-TP Mt_tRNA 53 29 73 111 45 139 104 24 114 ENSG00000210678 chr5 56297564 56297689 - RNU6ATAC2P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000210709 chr17 46921124 46921249 + RNU6ATAC3P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000210741 chr17 48632490 48632559 - MIR196A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406972 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0090051, GO:0035924, GO:0035195, GO:0035195, GO:0010593, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to vascular endothelial growth factor stimulus, gene silencing by miRNA, gene silencing by miRNA, negative regulation of lamellipodium assembly, 0 0 0 0 0 0 0 0 0 ENSG00000210825 chr11 93735111 93735236 - SNORA40 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000210839 chr4 73026748 73026873 + RNU6ATAC5P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000210841 chr3 57619447 57619572 + RNU6ATAC26P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000211137 chr15 62823957 62824041 + MIR190A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406965 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211445 chr5 151020438 151028993 + GPX3 protein_coding The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted, and is abundantly found in plasma. Downregulation of expression of this gene by promoter hypermethylation has been observed in a wide spectrum of human malignancies, including thyroid cancer, hepatocellular carcinoma and chronic myeloid leukemia. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]. 2878 GO:0070062, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular space, extracellular region, GO:0042802, GO:0008430, GO:0008430, GO:0008134, GO:0005515, GO:0004602, GO:0004602, GO:0004601, identical protein binding, selenium binding, selenium binding, transcription factor binding, protein binding, glutathione peroxidase activity, glutathione peroxidase activity, peroxidase activity, GO:0098869, GO:0055114, GO:0042744, GO:0042744, GO:0034599, GO:0006982, cellular oxidant detoxification, oxidation-reduction process, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, cellular response to oxidative stress, response to lipid hydroperoxide, 194 318 279 74 315 132 92 212 154 ENSG00000211448 chr14 80197527 80387757 - DIO2 protein_coding The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is widely expressed, including in thyroid and brain. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the non-standard amino acid, selenocysteine (Sec), which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Unlike the other two members (DIO1 and DIO3) of this enzyme family, the mRNA for this gene contains an additional in-frame UGA codon that has been reported (in human) to function either as a Sec or a stop codon, which can result in two isoforms with one or two Sec residues; however, only the upstream Sec (conserved with the single Sec residue found at the active site in DIO1 and DIO3) was shown to be essential for enzyme activity (PMID:10403186). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2018]. 1734 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:0033798, GO:0031625, GO:0008430, GO:0004800, GO:0004800, GO:0004800, thyroxine 5-deiodinase activity, ubiquitin protein ligase binding, selenium binding, thyroxine 5'-deiodinase activity, thyroxine 5'-deiodinase activity, thyroxine 5'-deiodinase activity, GO:0120162, GO:0055114, GO:0042446, GO:0042403, GO:0042403, GO:0006590, GO:0001514, positive regulation of cold-induced thermogenesis, oxidation-reduction process, hormone biosynthetic process, thyroid hormone metabolic process, thyroid hormone metabolic process, thyroid hormone generation, selenocysteine incorporation, 0 0 0 0 0 0 0 0 0 ENSG00000211450 chr11 57741250 57743554 + SELENOH protein_coding This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]. 280636 GO:0005794, Golgi apparatus, GO:0003723, RNA binding, 16 17 38 51 16 44 23 23 59 ENSG00000211451 chr1 145919013 145925341 + GNRHR2 transcribed_unitary_pseudogene In non-hominoid primates and non-mammalian vertebrates, the gonadotropin releasing hormone 2 receptor gene (GnRHR2) encodes a seven-transmembrane G-protein coupled receptor. However, in human, the corresponding reading frame contains a premature stop codon, which has been suggested to encode a selenocysteine residue, but there is no solid evidence for selenocysteine incorporation (PMID: 12538601). It appears that the human GnRHR2 transcription occurs but the gene does not likely produce a functional multi-transmembrane protein. A non-transcribed pseudogene of GnRHR2 is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2013]. 114814 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0042277, GO:0004968, GO:0004930, peptide binding, gonadotropin-releasing hormone receptor activity, G protein-coupled receptor activity, GO:0097211, GO:0007186, GO:0007186, cellular response to gonadotropin-releasing hormone, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 79 98 91 41 65 80 41 47 40 ENSG00000211452 chr1 53891239 53911086 + DIO1 protein_coding The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respectively. The activation reaction involves the conversion of the prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland, to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by 5'-deiodination. This protein provides most of the circulating T3, which is essential for growth, differentiation and basal metabolism in vertebrates. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2018]. 1733 GO:0016021, GO:0005886, GO:0005789, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, GO:0008430, GO:0004800, selenium binding, thyroxine 5'-deiodinase activity, GO:0055114, GO:0042446, GO:0042403, GO:0006590, GO:0006520, oxidation-reduction process, hormone biosynthetic process, thyroid hormone metabolic process, thyroid hormone generation, cellular amino acid metabolic process, 3 2 1 0 0 0 3 2 0 ENSG00000211454 chr1 19265982 19274194 - AKR7L polymorphic_pseudogene 0 0 1 0 1 1 0 0 5 ENSG00000211455 chr12 27243968 27325959 + STK38L protein_coding 23012 GO:0016020, GO:0015629, GO:0005829, GO:0005737, membrane, actin cytoskeleton, cytosol, cytoplasm, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0003779, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, actin binding, magnesium ion binding, GO:0051128, GO:0035556, GO:0035556, GO:0018105, GO:0006468, regulation of cellular component organization, intracellular signal transduction, intracellular signal transduction, peptidyl-serine phosphorylation, protein phosphorylation, 1688 1489 1939 868 1150 952 982 929 790 ENSG00000211456 chr3 45689056 45745424 + SACM1L protein_coding This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]. 22908 GO:0140268, GO:0032281, GO:0030176, GO:0005794, GO:0005789, GO:0005789, GO:0005789, GO:0005783, GO:0000139, GO:0000139, endoplasmic reticulum-plasma membrane contact site, AMPA glutamate receptor complex, integral component of endoplasmic reticulum membrane, Golgi apparatus, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, Golgi membrane, GO:0043812, GO:0043812, GO:0043812, GO:0034596, GO:0034593, GO:0016791, GO:0005515, GO:0004438, phosphatidylinositol-4-phosphate phosphatase activity, phosphatidylinositol-4-phosphate phosphatase activity, phosphatidylinositol-4-phosphate phosphatase activity, phosphatidylinositol phosphate 4-phosphatase activity, phosphatidylinositol bisphosphate phosphatase activity, phosphatase activity, protein binding, phosphatidylinositol-3-phosphatase activity, GO:0046856, GO:0046856, GO:0006661, phosphatidylinositol dephosphorylation, phosphatidylinositol dephosphorylation, phosphatidylinositol biosynthetic process, 439 458 517 374 539 489 420 350 390 ENSG00000211459 chrM 648 1601 + MT-RNR1 Mt_rRNA 17631 11836 14243 30545 25042 25299 26307 14966 18442 ENSG00000211460 chr2 121737103 121767853 + TSN protein_coding This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]. 7247 GO:0005829, GO:0005783, GO:0005737, GO:0005654, GO:0005634, cytosol, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, GO:0044877, GO:0043565, GO:0042802, GO:0005515, GO:0004521, GO:0003729, GO:0003697, GO:0003677, protein-containing complex binding, sequence-specific DNA binding, identical protein binding, protein binding, endoribonuclease activity, mRNA binding, single-stranded DNA binding, DNA binding, GO:0090502, GO:0030422, GO:0006310, RNA phosphodiester bond hydrolysis, endonucleolytic, production of siRNA involved in RNA interference, DNA recombination, 130 109 133 111 125 119 116 89 111 ENSG00000211491 chr13 40727828 40727875 - MIR320D1 miRNA 0 0 0 0 1 0 0 0 0 ENSG00000211513 chr19 46709293 46709345 - MIR320E miRNA 13 12 24 25 17 11 24 15 5 ENSG00000211514 chr17 59137758 59137872 - MIR454 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768216 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211520 chr2 56000714 56000795 - MIR216B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126319 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211532 chr19 53726922 53726986 + MIR526A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574486 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211538 chrX 50009722 50009805 + MIR501 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574503 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211543 chr1 116671749 116671827 + MIR320B1 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000211563 chr17 81125877 81125955 + MIR3065 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422915 GO:0035195, gene silencing by miRNA, 9 9 12 13 3 5 10 9 8 ENSG00000211568 chr11 43559656 43559753 + MIR670 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313777 0 0 0 0 0 0 0 0 0 ENSG00000211574 chr14 100852390 100852487 + MIR770 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768222 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211575 chr1 93846832 93846911 + MIR760 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126348 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211578 chrX 119646738 119646848 - MIR766 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768218 GO:0005615, extracellular space, GO:2000342, GO:1904465, GO:1901223, GO:0071356, GO:0071347, GO:0071222, GO:0050728, GO:0035195, GO:0032717, GO:0032715, GO:0032691, GO:0031393, negative regulation of chemokine (C-X-C motif) ligand 2 production, negative regulation of matrix metallopeptidase secretion, negative regulation of NIK/NF-kappaB signaling, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to lipopolysaccharide, negative regulation of inflammatory response, gene silencing by miRNA, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, negative regulation of prostaglandin biosynthetic process, 1 1 0 1 0 0 2 0 0 ENSG00000211579 chr13 52810050 52810140 + MIR759 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313778 0 0 0 0 0 0 0 0 0 ENSG00000211580 chr19 46018932 46019049 + MIR769 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768217 GO:0005615, extracellular space, 0 0 2 0 0 2 0 0 0 ENSG00000211581 chr1 156936131 156936244 - MIR765 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768220 GO:0035195, gene silencing by miRNA, 2 0 1 10 12 11 0 2 5 ENSG00000211582 chr14 101026020 101026107 + MIR758 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768212 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0090370, GO:0071404, GO:0035195, negative regulation of cholesterol efflux, cellular response to low-density lipoprotein particle stimulus, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211583 chrX 152393421 152393529 - MIR767 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768215 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211584 chr12 47753916 47782753 + SLC48A1 protein_coding 55652 GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005765, GO:0005765, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, lysosomal membrane, lysosomal membrane, GO:0020037, GO:0020037, GO:0015232, GO:0015232, GO:0005515, heme binding, heme binding, heme transmembrane transporter activity, heme transmembrane transporter activity, protein binding, GO:0015886, GO:0015886, GO:0015886, heme transport, heme transport, heme transport, 161 140 160 62 152 144 119 147 107 ENSG00000211590 chr21 35720715 35720808 + MIR802 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768219 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211591 chr16 30893903 30893985 + MIR762 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313837 19 8 14 27 5 22 9 10 16 ENSG00000211592 chr2 88857161 88857683 - IGKC IG_C_gene 137 180 86 356 351 215 233 422 180 ENSG00000211593 chr2 88860568 88860605 - IGKJ5 IG_J_gene 0 1 0 0 0 0 0 2 1 ENSG00000211594 chr2 88860886 88860922 - IGKJ4 IG_J_gene 0 0 2 0 0 0 0 0 0 ENSG00000211595 chr2 88861221 88861258 - IGKJ3 IG_J_gene 0 0 1 0 0 0 1 0 0 ENSG00000211596 chr2 88861525 88861563 - IGKJ2 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211597 chr2 88861886 88861923 - IGKJ1 IG_J_gene 0 0 1 0 1 0 0 0 0 ENSG00000211598 chr2 88885397 88886153 + IGKV4-1 IG_V_gene 4 3 1 6 6 4 4 22 2 ENSG00000211599 chr2 88897232 88897784 + IGKV5-2 IG_V_gene 0 0 0 1 0 5 0 0 0 ENSG00000211611 chr2 89159751 89160366 - IGKV6-21 IG_V_gene 1 0 0 0 0 0 0 0 0 ENSG00000211623 chr2 89985922 89986702 + IGKV2D-26 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211625 chr2 90038848 90039479 + IGKV3D-20 IG_V_gene 0 1 0 0 0 0 0 0 0 ENSG00000211626 chr2 90069662 90070238 + IGKV6D-41 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211632 chr2 90172802 90173414 + IGKV3D-11 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211633 chr2 90190193 90190681 + IGKV1D-42 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211637 chr22 22030934 22031472 + IGLV4-69 IG_V_gene 1 0 2 3 2 0 0 0 0 ENSG00000211638 chr22 22098700 22099212 + IGLV8-61 IG_V_gene 0 0 2 0 0 0 1 0 7 ENSG00000211639 chr22 22162199 22162681 + IGLV4-60 IG_V_gene 0 1 0 0 1 0 0 0 0 ENSG00000211640 chr22 22195799 22196276 + IGLV6-57 IG_V_gene 1 1 0 0 0 0 0 9 0 ENSG00000211641 chr22 22201663 22202161 + IGLV11-55 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211642 chr22 22038643 22215270 + IGLV10-54 IG_V_gene 1 4 0 0 0 1 0 15 0 ENSG00000211643 chr22 22318727 22319226 + IGLV5-52 IG_V_gene 2 2 2 0 7 2 1 4 0 ENSG00000211644 chr22 22322472 22322969 + IGLV1-51 IG_V_gene 1 7 3 6 9 7 0 3 1 ENSG00000211645 chr22 22327300 22327814 + IGLV1-50 IG_V_gene 0 1 0 0 0 0 0 0 0 ENSG00000211647 chr22 22352940 22353433 + IGLV5-48 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211648 chr22 22357739 22358260 + IGLV1-47 IG_V_gene 1 0 0 3 1 0 8 11 0 ENSG00000211649 chr22 22369614 22370087 + IGLV7-46 IG_V_gene 2 4 0 0 6 0 2 2 12 ENSG00000211650 chr22 22375986 22376505 + IGLV5-45 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211651 chr22 22380766 22381347 + IGLV1-44 IG_V_gene 1 1 3 22 3 5 5 2 0 ENSG00000211652 chr22 22395018 22395489 + IGLV7-43 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211653 chr22 22409766 22410282 + IGLV1-40 IG_V_gene 0 2 0 5 0 4 14 2 0 ENSG00000211654 chr22 22427540 22428035 + IGLV5-37 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211655 chr22 22431958 22432465 + IGLV1-36 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211656 chr22 22588155 22588688 + IGLV2-33 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211657 chr22 22594528 22595056 + IGLV3-32 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211658 chr22 22668288 22668806 + IGLV3-27 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211659 chr22 22686726 22687271 + IGLV3-25 IG_V_gene 0 1 0 13 0 0 2 2 0 ENSG00000211660 chr22 22697789 22698407 + IGLV2-23 IG_V_gene 1 2 1 0 2 0 5 4 0 ENSG00000211661 chr22 22704265 22704822 + IGLV3-22 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211662 chr22 22711689 22713203 + IGLV3-21 IG_V_gene 2 0 0 5 7 0 1 1 0 ENSG00000211663 chr22 22720623 22721145 + IGLV3-19 IG_V_gene 1 0 2 0 7 6 2 1 1 ENSG00000211664 chr22 22734607 22735089 + IGLV2-18 IG_V_gene 0 0 0 0 1 0 0 0 0 ENSG00000211665 chr22 22747383 22747921 + IGLV3-16 IG_V_gene 1 0 0 0 1 0 0 0 0 ENSG00000211666 chr22 22758700 22759218 + IGLV2-14 IG_V_gene 4 4 15 8 9 26 4 12 23 ENSG00000211667 chr22 22771824 22772582 + IGLV3-12 IG_V_gene 0 0 9 0 0 27 0 0 17 ENSG00000211668 chr22 22792491 22793007 + IGLV2-11 IG_V_gene 4 2 4 0 8 13 0 11 0 ENSG00000211669 chr22 22811747 22812281 + IGLV3-10 IG_V_gene 2 2 0 0 5 0 2 4 0 ENSG00000211670 chr22 22819010 22819756 + IGLV3-9 IG_V_gene 0 0 1 4 0 10 0 1 4 ENSG00000211672 chr22 22871507 22872035 + IGLV4-3 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211673 chr22 22880706 22881396 + IGLV3-1 IG_V_gene 6 0 0 7 2 0 8 1 3 ENSG00000211674 chr22 22893692 22893818 + IGLJ1 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211675 chr22 22895375 22895834 + IGLC1 IG_C_gene 0 0 0 0 0 0 0 0 0 ENSG00000211676 chr22 22899481 22899655 + IGLJ2 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211677 chr22 22900976 22901437 + IGLC2 IG_C_gene 43 29 43 129 97 93 119 101 25 ENSG00000211678 chr22 22904850 22905025 + IGLJ3 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211679 chr22 22906342 22906803 + IGLC3 IG_C_gene 37 42 37 129 62 44 90 64 30 ENSG00000211680 chr22 22910574 22910606 + IGLJ4 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211681 chr22 22914237 22914308 + IGLJ5 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211682 chr22 22918132 22918201 + IGLJ6 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211683 chr22 23630618 23638941 - AP000346.1 processed_transcript 4 3 19 2 2 6 2 1 2 ENSG00000211684 chr22 22921390 22921435 + IGLJ7 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211685 chr22 22922594 22923034 + IGLC7 IG_C_gene 0 0 0 9 6 0 2 0 0 ENSG00000211687 chr7 38253380 38253429 - TRGJ2 TR_J_gene 0 0 0 0 0 3 0 0 6 ENSG00000211688 chr7 38256337 38256396 - TRGJP2 TR_J_gene 0 2 0 0 1 0 0 0 0 ENSG00000211689 chr7 38257879 38265678 - TRGC1 TR_C_gene In some non-lymphoid tissues, the unrearranged T cell receptor gamma (TRG@) locus is expressed. The resulting transcript contains a subset of the TRG@ gene segments and is shorter than TRG@ transcripts expressed in lymphoid tissues. This RefSeq record represents the unrearranged TRG@ locus transcript; the complete TRG@ locus is represented by the genomic RefSeq NG_001336. The transcript represented by this RefSeq has two open reading frames (ORFs) that encode different proteins. The downstream ORF is in the same frame as TRG@ and its protein product is similar to TRG@ proteins. The upstream ORF uses a different reading frame and encodes a novel protein. [provided by RefSeq, Jul 2008]. 445347 21 23 53 83 29 115 83 24 68 ENSG00000211690 chr7 38269491 38269540 - TRGJ1 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211691 chr7 38273587 38273647 - TRGJP TR_J_gene 0 0 0 0 0 0 0 0 3 ENSG00000211692 chr7 38276259 38276318 - TRGJP1 TR_J_gene 0 0 0 0 0 9 0 0 0 ENSG00000211693 chr7 38291616 38292078 - TRGV11 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211694 chr7 38299811 38300322 - TRGV10 TR_V_gene 2 2 10 12 0 41 16 8 26 ENSG00000211695 chr7 38317017 38318861 - TRGV9 TR_V_gene 7 6 3 7 9 21 8 3 17 ENSG00000211696 chr7 38330343 38330935 - TRGV8 TR_V_gene 1 2 8 0 3 31 1 7 27 ENSG00000211697 chr7 38349355 38350022 - TRGV5 TR_V_gene 2 5 2 7 7 14 4 1 0 ENSG00000211698 chr7 38353715 38354517 - TRGV4 TR_V_gene 6 4 5 15 0 16 5 10 9 ENSG00000211699 chr7 38358512 38359162 - TRGV3 TR_V_gene 4 3 9 24 5 22 10 4 19 ENSG00000211701 chr7 38367586 38368169 - TRGV1 TR_V_gene 0 0 0 0 0 0 0 1 3 ENSG00000211706 chr7 142328297 142328786 + TRBV6-1 TR_V_gene 1 0 11 11 3 3 0 0 2 ENSG00000211707 chr7 142332182 142332701 + TRBV7-1 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211710 chr7 142313184 142313666 + TRBV4-1 TR_V_gene 5 0 4 14 8 3 8 3 2 ENSG00000211713 chr7 142380806 142381261 + TRBV6-4 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211714 chr7 142384329 142384841 + TRBV7-3 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211715 chr7 142389202 142389668 + TRBV5-3 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211716 chr7 142391891 142392412 + TRBV9 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211717 chr7 142399860 142400377 + TRBV10-1 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211720 chr7 142407672 142408136 + TRBV11-1 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211721 chr7 142450947 142451448 + TRBV6-5 TR_V_gene 0 0 0 0 1 46 9 3 34 ENSG00000211724 chr7 142469537 142470013 + TRBV6-6 TR_V_gene 0 0 4 1 0 3 7 0 0 ENSG00000211725 chr7 142482548 142483019 + TRBV5-5 TR_V_gene 2 0 0 1 0 5 6 1 3 ENSG00000211727 chr7 142492132 142492673 + TRBV7-6 TR_V_gene 2 2 3 3 2 0 1 1 5 ENSG00000211728 chr7 142500028 142500534 + TRBV5-6 TR_V_gene 0 1 0 0 0 0 0 0 0 ENSG00000211731 chr7 142520090 142520556 + TRBV5-7 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211734 chr7 142320677 142321544 + TRBV5-1 TR_V_gene 0 0 0 0 0 16 0 0 15 ENSG00000211739 chr7 142440883 142441325 + TRBV12-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000211745 chr7 142345421 142345985 + TRBV4-2 TR_V_gene 0 0 2 4 0 1 2 0 0 ENSG00000211746 chr7 142618849 142619532 + TRBV19 TR_V_gene 10 0 11 36 1 26 23 0 15 ENSG00000211747 chr7 142626649 142627399 + TRBV20-1 TR_V_gene 4 0 11 52 0 42 21 0 24 ENSG00000211749 chr7 142645961 142646467 + TRBV23-1 TR_V_gene 4 0 0 5 0 4 7 1 1 ENSG00000211750 chr7 142656701 142657213 + TRBV24-1 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211751 chr7 142791694 142793368 + TRBC1 TR_C_gene 42 20 88 154 50 473 155 64 158 ENSG00000211752 chr7 142715346 142715861 + TRBV27 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211753 chr7 142720660 142721160 + TRBV28 TR_V_gene 0 0 0 0 0 0 0 0 1 ENSG00000211764 chr7 142796365 142796414 + TRBJ2-1 TR_J_gene 0 0 0 2 0 0 0 0 0 ENSG00000211765 chr7 142796560 142796610 + TRBJ2-2 TR_J_gene 0 0 0 0 0 0 4 0 0 ENSG00000211766 chr7 142796697 142796742 + TRBJ2-2P TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211767 chr7 142796847 142796895 + TRBJ2-3 TR_J_gene 0 0 2 1 3 7 0 0 6 ENSG00000211768 chr7 142796998 142797047 + TRBJ2-4 TR_J_gene 0 2 2 2 0 0 3 0 8 ENSG00000211769 chr7 142797119 142797166 + TRBJ2-5 TR_J_gene 0 0 0 0 0 1 4 0 0 ENSG00000211770 chr7 142797239 142797291 + TRBJ2-6 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211771 chr7 142797456 142797502 + TRBJ2-7 TR_J_gene 3 2 9 10 2 20 7 2 3 ENSG00000211772 chr7 142801041 142802748 + TRBC2 TR_C_gene 21 11 149 35 8 56 57 11 51 ENSG00000211776 chr14 21712321 21712843 + TRAV2 TR_V_gene 3 1 9 8 1 0 1 4 3 ENSG00000211777 chr14 21723713 21724321 + TRAV3 TR_V_gene 4 2 7 3 13 4 4 0 6 ENSG00000211778 chr14 21736152 21736982 + TRAV4 TR_V_gene 2 1 9 28 4 12 11 2 12 ENSG00000211779 chr14 21749178 21749705 + TRAV5 TR_V_gene 3 0 2 3 0 7 2 2 7 ENSG00000211780 chr14 21768489 21769080 + TRAV6 TR_V_gene 2 0 0 0 1 2 6 0 5 ENSG00000211781 chr14 21782993 21783503 + TRAV7 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211782 chr14 21797287 21797886 + TRAV8-1 TR_V_gene 5 2 7 7 0 22 2 2 10 ENSG00000211783 chr14 21811502 21811977 + TRAV9-1 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211784 chr14 21825472 21826075 + TRAV10 TR_V_gene 1 0 0 11 2 0 0 0 1 ENSG00000211785 chr14 21841240 21841774 + TRAV12-1 TR_V_gene 1 2 4 10 7 12 7 4 7 ENSG00000211786 chr14 21846537 21847221 + TRAV8-2 TR_V_gene 4 0 13 6 5 4 7 4 16 ENSG00000211787 chr14 21852558 21853006 + TRAV8-3 TR_V_gene 4 2 8 12 10 36 15 11 11 ENSG00000211788 chr14 21868839 21869365 + TRAV13-1 TR_V_gene 4 1 13 32 2 14 17 3 15 ENSG00000211789 chr14 21887857 21888502 + TRAV12-2 TR_V_gene 6 4 9 12 3 21 0 0 4 ENSG00000211790 chr14 21894433 21895030 + TRAV8-4 TR_V_gene 5 3 2 13 1 2 8 0 10 ENSG00000211791 chr14 21918188 21918756 + TRAV13-2 TR_V_gene 1 2 4 8 0 25 17 2 6 ENSG00000211792 chr14 21924063 21924651 + TRAV14DV4 TR_V_gene 1 3 8 13 4 17 0 4 5 ENSG00000211793 chr14 21941128 21941657 + TRAV9-2 TR_V_gene 5 4 4 16 5 10 7 2 3 ENSG00000211794 chr14 21965451 21966061 + TRAV12-3 TR_V_gene 3 1 4 12 6 9 6 4 7 ENSG00000211795 chr14 21978459 21979120 + TRAV8-6 TR_V_gene 6 1 3 3 3 6 7 1 2 ENSG00000211796 chr14 21990496 21990938 + TRAV16 TR_V_gene 0 0 3 7 2 6 4 6 11 ENSG00000211797 chr14 21997539 21998168 + TRAV17 TR_V_gene 5 3 3 5 10 21 16 2 13 ENSG00000211798 chr14 22003106 22003673 + TRAV18 TR_V_gene 1 0 3 0 0 0 4 0 0 ENSG00000211799 chr14 22007512 22008181 + TRAV19 TR_V_gene 5 0 2 18 0 29 16 8 26 ENSG00000211800 chr14 22040594 22041153 + TRAV20 TR_V_gene 2 1 6 15 0 25 9 3 11 ENSG00000211801 chr14 22052514 22053056 + TRAV21 TR_V_gene 9 7 8 13 1 5 13 4 21 ENSG00000211802 chr14 22070557 22071208 + TRAV22 TR_V_gene 0 1 0 8 0 2 0 0 0 ENSG00000211803 chr14 22086407 22086961 + TRAV23DV6 TR_V_gene 0 2 2 14 2 11 5 1 7 ENSG00000211804 chr14 22096032 22096619 + TRDV1 TR_V_gene 0 1 0 4 1 4 6 3 6 ENSG00000211805 chr14 22105343 22105846 + TRAV24 TR_V_gene 0 0 0 0 2 4 4 3 4 ENSG00000211806 chr14 22112347 22113031 + TRAV25 TR_V_gene 0 0 3 8 0 7 1 1 0 ENSG00000211807 chr14 22123318 22124285 + TRAV26-1 TR_V_gene 2 2 4 16 4 7 12 1 4 ENSG00000211808 chr14 22132553 22133034 + TRAV8-7 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211809 chr14 22147995 22148633 + TRAV27 TR_V_gene 2 0 3 0 2 10 11 4 5 ENSG00000211810 chr14 22163238 22163870 + TRAV29DV5 TR_V_gene 3 1 1 8 1 20 4 1 18 ENSG00000211812 chr14 22202583 22203368 + TRAV26-2 TR_V_gene 0 0 2 0 0 0 2 0 4 ENSG00000211813 chr14 22207522 22208129 + TRAV34 TR_V_gene 0 0 0 0 1 0 3 0 0 ENSG00000211814 chr14 22221896 22222475 + TRAV35 TR_V_pseudogene 1 0 3 1 4 0 0 1 1 ENSG00000211815 chr14 22226746 22227254 + TRAV36DV7 TR_V_gene 2 2 0 1 1 4 5 0 8 ENSG00000211816 chr14 22271968 22272563 + TRAV38-1 TR_V_gene 1 0 2 3 0 12 2 0 3 ENSG00000211817 chr14 22281105 22281748 + TRAV38-2DV8 TR_V_gene 1 0 0 4 1 5 2 0 6 ENSG00000211818 chr14 22304054 22304553 + TRAV39 TR_V_gene 2 0 0 7 1 0 0 1 4 ENSG00000211819 chr14 22314490 22314919 + TRAV40 TR_V_gene 0 0 0 0 1 0 0 0 0 ENSG00000211820 chr14 22320188 22320691 + TRAV41 TR_V_gene 1 0 0 9 5 3 0 0 11 ENSG00000211821 chr14 22422371 22423042 + TRDV2 TR_V_gene 2 0 5 15 6 24 14 20 10 ENSG00000211825 chr14 22450089 22450139 + TRDJ1 TR_J_gene 0 0 1 0 1 0 0 0 4 ENSG00000211826 chr14 22455249 22455296 + TRDJ4 TR_J_gene 0 0 0 0 2 0 0 0 0 ENSG00000211827 chr14 22456689 22456742 + TRDJ2 TR_J_gene 0 0 1 1 0 0 0 0 5 ENSG00000211828 chr14 22459098 22459156 + TRDJ3 TR_J_gene 1 0 0 0 0 1 0 5 0 ENSG00000211829 chr14 22462932 22465787 + TRDC TR_C_gene 29 18 29 114 74 137 109 62 117 ENSG00000211831 chr14 22475316 22475375 + TRAJ61 TR_J_gene 1 0 0 4 0 0 0 0 0 ENSG00000211832 chr14 22476553 22476606 + TRAJ59 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211833 chr14 22477707 22477769 + TRAJ58 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211834 chr14 22478872 22478934 + TRAJ57 TR_J_gene 0 1 0 0 0 0 0 0 0 ENSG00000211835 chr14 22479521 22479582 + TRAJ56 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211836 chr14 22482287 22482346 + TRAJ54 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211837 chr14 22483004 22483069 + TRAJ53 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211838 chr14 22486228 22486296 + TRAJ52 TR_J_gene 0 0 0 0 2 0 0 0 0 ENSG00000211839 chr14 22488593 22488652 + TRAJ50 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211840 chr14 22489488 22489543 + TRAJ49 TR_J_gene 0 0 1 0 0 3 1 0 0 ENSG00000211841 chr14 22490491 22490553 + TRAJ48 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211842 chr14 22492851 22492907 + TRAJ47 TR_J_gene 0 0 0 0 0 0 0 0 1 ENSG00000211843 chr14 22493403 22493465 + TRAJ46 TR_J_gene 0 1 1 2 0 0 0 0 0 ENSG00000211844 chr14 22493925 22493990 + TRAJ45 TR_J_gene 0 0 3 0 0 3 0 0 1 ENSG00000211845 chr14 22494821 22494883 + TRAJ44 TR_J_gene 0 0 1 0 0 0 0 0 0 ENSG00000211846 chr14 22495913 22495966 + TRAJ43 TR_J_gene 0 0 1 1 0 0 0 0 0 ENSG00000211847 chr14 22496887 22496952 + TRAJ42 TR_J_gene 0 0 0 2 1 0 0 0 4 ENSG00000211848 chr14 22497657 22497718 + TRAJ41 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211849 chr14 22499689 22499749 + TRAJ40 TR_J_gene 0 3 0 0 0 0 2 0 0 ENSG00000211850 chr14 22501601 22501663 + TRAJ39 TR_J_gene 0 0 2 0 0 0 0 0 2 ENSG00000211851 chr14 22502231 22502292 + TRAJ38 TR_J_gene 0 0 1 0 0 0 0 0 5 ENSG00000211854 chr14 22506644 22506702 + TRAJ35 TR_J_gene 0 0 0 0 0 1 0 0 0 ENSG00000211855 chr14 22507666 22507723 + TRAJ34 TR_J_gene 0 0 0 0 0 0 1 0 0 ENSG00000211856 chr14 22508602 22508658 + TRAJ33 TR_J_gene 0 0 1 3 0 3 0 0 0 ENSG00000211857 chr14 22509341 22509406 + TRAJ32 TR_J_gene 0 0 0 1 0 0 0 0 0 ENSG00000211858 chr14 22510968 22511024 + TRAJ31 TR_J_gene 0 0 0 2 0 0 0 0 3 ENSG00000211859 chr14 22512852 22512908 + TRAJ30 TR_J_gene 0 0 2 0 0 0 0 0 0 ENSG00000211860 chr14 22513939 22513998 + TRAJ29 TR_J_gene 1 0 1 0 3 1 1 0 0 ENSG00000211861 chr14 22515623 22515688 + TRAJ28 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211862 chr14 22516273 22516331 + TRAJ27 TR_J_gene 0 0 0 0 0 0 1 0 0 ENSG00000211863 chr14 22518446 22518505 + TRAJ26 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211864 chr14 22518812 22518871 + TRAJ25 TR_J_gene 0 0 2 2 0 0 2 0 0 ENSG00000211865 chr14 22519969 22520031 + TRAJ24 TR_J_gene 0 0 3 0 0 0 0 0 0 ENSG00000211866 chr14 22520416 22520478 + TRAJ23 TR_J_gene 0 1 0 0 0 0 5 0 0 ENSG00000211867 chr14 22522040 22522102 + TRAJ22 TR_J_gene 2 0 0 0 0 0 0 0 0 ENSG00000211868 chr14 22523600 22523654 + TRAJ21 TR_J_gene 0 1 1 1 0 0 1 0 0 ENSG00000211869 chr14 22524325 22524381 + TRAJ20 TR_J_gene 0 0 1 0 0 0 0 0 0 ENSG00000211870 chr14 22525263 22525322 + TRAJ19 TR_J_gene 0 0 0 6 0 0 4 0 5 ENSG00000211871 chr14 22525650 22525715 + TRAJ18 TR_J_gene 1 0 0 0 0 0 0 0 0 ENSG00000211872 chr14 22526844 22526906 + TRAJ17 TR_J_gene 0 0 0 0 1 4 3 0 0 ENSG00000211873 chr14 22528527 22528586 + TRAJ16 TR_J_gene 0 0 0 2 0 3 1 0 0 ENSG00000211875 chr14 22530327 22530378 + TRAJ14 TR_J_gene 1 1 3 0 0 0 0 0 1 ENSG00000211876 chr14 22531076 22531138 + TRAJ13 TR_J_gene 1 0 1 0 0 0 0 0 1 ENSG00000211877 chr14 22531939 22531998 + TRAJ12 TR_J_gene 2 0 0 1 0 2 3 0 0 ENSG00000211878 chr14 22532502 22532561 + TRAJ11 TR_J_gene 0 0 0 0 0 0 2 0 0 ENSG00000211879 chr14 22533497 22533560 + TRAJ10 TR_J_gene 0 0 1 0 0 0 1 0 5 ENSG00000211880 chr14 22535554 22535614 + TRAJ9 TR_J_gene 1 2 2 0 0 0 0 0 2 ENSG00000211881 chr14 22536145 22536204 + TRAJ8 TR_J_pseudogene 0 0 0 0 0 0 4 0 1 ENSG00000211882 chr14 22537622 22537680 + TRAJ7 TR_J_gene 0 0 1 0 0 5 4 0 0 ENSG00000211883 chr14 22539073 22539134 + TRAJ6 TR_J_gene 0 0 2 0 2 0 0 0 2 ENSG00000211884 chr14 22540247 22540306 + TRAJ5 TR_J_gene 0 1 2 1 0 2 3 0 0 ENSG00000211885 chr14 22542199 22542261 + TRAJ4 TR_J_gene 0 0 1 1 1 6 0 0 0 ENSG00000211886 chr14 22543179 22543240 + TRAJ3 TR_J_gene 0 0 3 1 0 0 1 0 1 ENSG00000211887 chr14 22544071 22544136 + TRAJ2 TR_J_gene 0 0 1 4 0 1 0 0 5 ENSG00000211888 chr14 22545037 22545098 + TRAJ1 TR_J_gene 0 0 2 1 0 0 2 0 0 ENSG00000211890 chr14 105583731 105588395 - IGHA2 IG_C_gene 10 34 5 52 44 15 26 57 8 ENSG00000211891 chr14 105597691 105601728 - IGHE IG_C_gene 0 0 0 0 0 1 0 0 0 ENSG00000211892 chr14 105620506 105626066 - IGHG4 IG_C_gene 6 3 0 1 3 0 11 6 0 ENSG00000211893 chr14 105639559 105644790 - IGHG2 IG_C_gene 7 1 0 18 74 5 31 7 3 ENSG00000211895 chr14 105703995 105708665 - IGHA1 IG_C_gene 5 3 3 12 41 11 4 17 9 ENSG00000211896 chr14 105736343 105743071 - IGHG1 IG_C_gene 2 33 13 26 8 6 55 53 0 ENSG00000211897 chr14 105764503 105771405 - IGHG3 IG_C_gene 3 3 1 14 7 6 15 4 0 ENSG00000211898 chr14 105836765 105845678 - IGHD IG_C_gene 1 10 2 0 7 27 4 2 6 ENSG00000211899 chr14 105851705 105856218 - IGHM IG_C_gene 0 3 20 59 86 4 43 80 4 ENSG00000211900 chr14 105863198 105863258 - IGHJ6 IG_J_gene 1 0 0 0 1 0 0 0 0 ENSG00000211904 chr14 105865199 105865250 - IGHJ2 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211905 chr14 105865407 105865458 - IGHJ1 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000211907 chr14 105881034 105881053 - IGHD1-26 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211909 chr14 105883903 105883922 - IGHD5-24 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211911 chr14 105886031 105886061 - IGHD3-22 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211912 chr14 105888551 105888578 - IGHD2-21 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211914 chr14 105891699 105891719 - IGHD6-19 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211915 chr14 105893542 105893561 - IGHD5-18 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211917 chr14 105895634 105895670 - IGHD3-16 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211918 chr14 105897957 105897987 - IGHD2-15 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211920 chr14 105901142 105901162 - IGHD6-13 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211921 chr14 105902649 105902671 - IGHD5-12 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211923 chr14 105904497 105904527 - IGHD3-10 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211924 chr14 105904681 105904711 - IGHD3-9 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211925 chr14 105907211 105907241 - IGHD2-8 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211928 chr14 105912257 105912276 - IGHD5-5 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211930 chr14 105914359 105914389 - IGHD3-3 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211931 chr14 105916826 105916856 - IGHD2-2 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000211933 chr14 105939756 105940253 - IGHV6-1 IG_V_gene 0 0 0 1 0 0 0 0 0 ENSG00000211934 chr14 105986582 105987083 - IGHV1-2 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211935 chr14 106005095 106005574 - IGHV1-3 IG_V_gene 0 0 0 0 2 3 0 0 0 ENSG00000211937 chr14 106037902 106038365 - IGHV2-5 IG_V_gene 0 0 0 2 0 3 0 0 0 ENSG00000211938 chr14 106062151 106062683 - IGHV3-7 IG_V_gene 0 1 0 2 2 0 0 2 0 ENSG00000211941 chr14 106116635 106117204 - IGHV3-11 IG_V_gene 0 2 0 2 2 0 0 0 1 ENSG00000211942 chr14 106129540 106130072 - IGHV3-13 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211943 chr14 106153624 106154163 - IGHV3-15 IG_V_gene 0 0 0 1 0 0 0 1 2 ENSG00000211944 chr14 106165205 106165730 - IGHV3-16 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211945 chr14 106184901 106185394 - IGHV1-18 IG_V_gene 0 1 0 0 2 9 1 4 0 ENSG00000211946 chr14 106210936 106211453 - IGHV3-20 IG_V_gene 0 1 0 0 0 0 0 0 0 ENSG00000211947 chr14 106235064 106235594 - IGHV3-21 IG_V_gene 0 0 0 5 1 0 3 0 0 ENSG00000211949 chr14 106268606 106269140 - IGHV3-23 IG_V_gene 0 1 1 6 17 5 9 4 0 ENSG00000211950 chr14 106276548 106277043 - IGHV1-24 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211951 chr14 106301396 106301862 - IGHV2-26 IG_V_gene 0 0 0 0 0 0 1 0 0 ENSG00000211952 chr14 106324254 106324760 - IGHV4-28 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211955 chr14 106359793 106360324 - IGHV3-33 IG_V_gene 4 1 1 1 1 0 1 4 0 ENSG00000211956 chr14 106373663 106374145 - IGHV4-34 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211957 chr14 106389392 106389858 - IGHV3-35 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211958 chr14 106410493 106411021 - IGHV3-38 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211959 chr14 106421711 106422218 - IGHV4-39 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211961 chr14 106506996 106507491 - IGHV1-45 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211962 chr14 106511117 106511856 - IGHV1-46 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211964 chr14 106537810 106538344 - IGHV3-48 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211965 chr14 106556936 106557477 - IGHV3-49 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211966 chr14 106578744 106579236 - IGHV5-51 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211967 chr14 106592676 106593347 - IGHV3-53 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211968 chr14 106622357 106622855 - IGHV1-58 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211970 chr14 106639119 106639657 - IGHV4-61 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211972 chr14 106675017 106675544 - IGHV3-66 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211973 chr14 106714684 106715181 - IGHV1-69 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211974 chr14 106723574 106724093 - IGHV2-70D IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211976 chr14 106802694 106803233 - IGHV3-73 IG_V_gene 0 0 1 0 0 0 4 0 0 ENSG00000211978 chr14 106851123 106851417 - IGHV5-78 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000211979 chr14 106874583 106875071 - IGHV7-81 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000211991 chrX 70022857 70022923 + MIR676 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500887 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000211997 chr11 79402022 79402109 - MIR708 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126333 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000212013 chrX 147258760 147258850 - MIR509-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126301 0 0 0 0 0 0 0 0 0 ENSG00000212014 chrX 147259652 147259726 - MIR509-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126337 0 0 0 0 0 0 0 0 0 ENSG00000212017 chr6 57390132 57390212 + MIR548U miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422884 0 0 0 0 0 0 0 0 0 ENSG00000212024 chr7 29680734 29680828 - MIR550A3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616354 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000212027 chrX 74218547 74218618 - MIR374B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126317 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 7 1 7 4 0 1 4 0 ENSG00000212036 chr2 49059603 49059658 + MIR548BA miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465854 0 0 0 0 0 0 0 0 0 ENSG00000212040 chr14 101031987 101032064 + MIR543 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126335 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000773, GO:0035195, GO:0035195, negative regulation of cellular senescence, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000212051 chr18 24321686 24321735 + MIR320C2 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000212100 chrX 114639435 114639519 + MIR764 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313838 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000212102 chr22 21652981 21653058 + MIR301B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126318 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0090370, GO:0042953, GO:0035195, negative regulation of cholesterol efflux, lipoprotein transport, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000212122 chr5 113432554 113435031 - TSSK1B protein_coding TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]. 83942 GO:0031514, GO:0005737, GO:0005634, GO:0001669, motile cilium, cytoplasm, nucleus, acrosomal vesicle, GO:0106311, GO:0106310, GO:0044877, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, protein-containing complex binding, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, magnesium ion binding, GO:0035556, GO:0018105, GO:0007286, GO:0007275, GO:0006468, GO:0006468, intracellular signal transduction, peptidyl-serine phosphorylation, spermatid development, multicellular organism development, protein phosphorylation, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000212123 chr19 5782960 5784765 - PRR22 protein_coding 163154 2 6 1 10 1 6 3 5 1 ENSG00000212124 chr12 11021619 11022620 - TAS2R19 protein_coding 259294 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0005515, GO:0004930, bitter taste receptor activity, protein binding, G protein-coupled receptor activity, GO:0007186, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000212125 chr12 10964425 10965352 - TAS2R15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212126 chr12 10985913 10986912 - TAS2R50 protein_coding TAS2R50 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM, Mar 2008]. 259296 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000212127 chr12 10937406 11171573 - TAS2R14 protein_coding This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. 50840 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0008527, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 1 1 0 0 ENSG00000212128 chr12 10907926 10909562 - TAS2R13 protein_coding This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. 50838 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0032467, GO:0007186, GO:0001580, GO:0001580, positive regulation of cytokinesis, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000212133 chr2 88383494 88383597 - RNU6-1168P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212134 chr20 31376319 31376446 + RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212135 chr11 46762389 46762499 - SNORD67 snoRNA 692108 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212136 chr21 37045530 37045636 + RNU6-696P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212138 chr12 109059986 109060100 + RNA5SP372 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212140 chr2 94846533 94846639 - RNU6-1320P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212144 chr1 234593275 234593402 + RF00096 snoRNA 0 0 0 0 0 0 0 1 0 ENSG00000212145 chr3 41899111 41899253 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212146 chr3 196341609 196341715 - RNU6-910P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212147 chr6 105045562 105045668 - RNU6-1106P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212149 chr17 42940575 42940702 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212153 chr7 141727984 141728148 + RNU1-82P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212154 chr12 131661063 131661174 + RNA5SP377 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212156 chr10 2199387 2199488 + RNU6-576P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212157 chr1 223976146 223976249 - RNU6-1319P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000212158 chr3 184325696 184325771 + SNORD66 snoRNA 692107 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 2 0 0 0 0 0 ENSG00000212160 chr4 110278185 110278291 + RNU6-205P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212161 chr1 159851906 159851972 - RF00570 snoRNA 0 1 0 0 0 0 0 0 0 ENSG00000212163 chr17 2330180 2330370 - SNORD91A snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212165 chr20 16982831 16983033 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212167 chr2 175022214 175022319 + RNU6-763P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000212168 chr2 57544535 57544599 + RF00592 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212170 chr15 82174224 82174385 - RNU1-77P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212171 chr2 20401627 20401724 - RNA5SP86 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212172 chr12 22195469 22195629 - RNU1-149P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212175 chr2 55565703 55565850 + RF00586 snoRNA 4 3 3 0 2 3 0 0 0 ENSG00000212176 chr6 41239520 41239626 - RNA5SP207 rRNA_pseudogene 7 35 40 13 13 15 2 36 9 ENSG00000212181 chr2 148260574 148260708 - RF00554 snoRNA 0 0 0 0 0 3 0 0 0 ENSG00000212182 chr2 114005440 114005655 - RF00012 snoRNA 0 0 1 0 4 0 0 6 0 ENSG00000212184 chr2 201927439 201927543 + RNU6-440P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212186 chr17 20126388 20126488 - RNU6-258P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212187 chr1 212025561 212025682 + RF00568 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212189 chr16 7004007 7004112 - RNU6-328P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212190 chr17 30861843 30861938 + RNU6-298P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212191 chr4 178685886 178685956 - RF00571 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212195 chr17 58631641 58631836 - RF00012 snoRNA 1 0 0 0 0 0 0 0 0 ENSG00000212199 chr2 131229607 131229713 + RNU6-127P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212204 chr2 33285769 33285887 - RNA5SP91 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212205 chr1 211803017 211803104 + RF00019 misc_RNA 4 10 3 1 5 0 2 2 3 ENSG00000212206 chr17 8329583 8329719 + RF00265 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212207 chrX 41570923 41571029 - RNU6-1321P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212211 chr3 60856389 60856605 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212214 chrX 3532117 3532251 - SNORA48B snoRNA 109616969 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212215 chr5 61664145 61664239 - RNU6-913P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212216 chr22 15701459 15701565 + RNU6-816P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212219 chr7 151900275 151900374 + RNU6-604P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212221 chr8 143350172 143350278 + RNU6-220P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212224 chr20 41712479 41712600 - RF00568 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212226 chr4 89130852 89130953 + RNU6-907P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212228 chr16 11274113 11274236 - RF00554 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212229 chr6 67210408 67210480 - RF00571 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212230 chr1 243081156 243081259 - RNU6-747P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212232 chr20 17962710 17962946 - SNORD17 snoRNA 692086 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 0 1 2 0 0 2 0 0 ENSG00000212237 chr1 228647912 228648032 - RNA5SP18 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212238 chr7 129756266 129756377 + RNA5SP244 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212240 chr6 28915645 28915744 + RNU6-930P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212241 chrX 115139030 115139123 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212242 chr6 136630243 136630355 + RNA5SP219 rRNA_pseudogene 9 14 16 2 26 7 13 7 5 ENSG00000212246 chr2 208019638 208019741 - RNU6-360P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212247 chr20 13973316 13973424 - RNU6-278P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212248 chr1 99978939 99979045 + RNU6-750P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212249 chr5 68873954 68874087 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212251 chr12 131299640 131299751 - RNA5SP376 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212257 chr1 65022968 65023074 - RNU6-1176P snRNA 0 1 0 1 6 2 0 2 8 ENSG00000212258 chr5 7047227 7047336 + RNA5SP176 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212259 chr5 95521369 95521475 + RNU6-308P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212260 chr5 69530613 69530717 - RNU6-724P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212264 chr7 23396446 23396516 + SNORD65C snoRNA 109616981 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212265 chr5 56260333 56260446 - RNA5SP185 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212266 chr1 117688621 117688742 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212269 chr3 23641489 23641592 - RNU6-788P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212270 chr14 25806648 25806712 - RF00440 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212273 chr8 133644598 133644725 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212276 chr9 106843749 106843866 - RNA5SP292 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212278 chr5 18236123 18236196 + RF00136 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212279 chr15 74490959 74491028 - RF00591 snoRNA 1 1 0 0 0 1 2 2 0 ENSG00000212280 chr8 17748118 17748230 + RNA5SP256 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212282 chr4 12312588 12312690 + RNU6-578P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212283 chr2 101272936 101273049 - SNORD89 snoRNA 692205 GO:0005730, nucleolus, GO:0006396, RNA processing, 67 60 61 63 88 57 88 65 60 ENSG00000212289 chr11 27521605 27521726 - RNA5SP339 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212292 chr1 154295503 154295601 + RNU6-239P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212293 chr13 32420390 32420516 - RF00190 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212295 chr6 156378750 156378824 + SNORD28B snoRNA 109617011 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212296 chr5 40832656 40832735 - SNORD72 snoRNA 619564 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 2 0 0 ENSG00000212297 chr3 198071311 198071417 - RNU6-821P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212298 chr12 64204793 64204899 + RNU6-1009P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212302 chr14 22756761 22756829 - RF00588 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212303 chr7 135665599 135665702 - RNU6-1154P snRNA 0 0 0 0 0 2 0 0 0 ENSG00000212304 chr20 49280683 49280772 + SNORD12 snoRNA 692057 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212305 chr5 12297399 12297504 - RNU6-679P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212306 chr15 100638363 100638457 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212308 chr1 78375164 78375268 - RNA5SP23 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212309 chr2 202278108 202278192 + RF00575 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212312 chr2 162496936 162497051 + RNA5SP109 rRNA_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000212314 chr19 54263951 54264053 - RNU6-1307P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212316 chr9 75198071 75198177 + RNU6-1228P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000212319 chr3 101628310 101628406 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212321 chrX 122840426 122840645 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212324 chr10 83764358 83764464 + RNU6-129P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212325 chr10 100398352 100398446 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212327 chr3 9919051 9919153 - RNU6-882P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212329 chr18 14190700 14190806 + RNU6-316P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212330 chr14 102501676 102501779 + RNU6-244P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212331 chr10 154831 154943 - RNA5SP297 rRNA_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000212332 chr10 86488446 86488549 + RNU6-780P snRNA 0 2 2 10 2 7 1 0 0 ENSG00000212333 chr6 114220681 114220786 - RNA5SP213 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212335 chr14 22852616 22852728 - RF00019 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000212336 chr6 81622200 81622319 + RNA5SP210 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212338 chr1 179196473 179196579 + RF00272 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212340 chr3 64511755 64511857 + RNU6-739P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212342 chr8 130162972 130163127 + RF00586 snoRNA 0 2 4 1 2 4 0 2 3 ENSG00000212344 chr3 128141875 128141977 - RNU6-823P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212345 chr12 9624122 9624228 - RNU6-700P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212347 chrX 45892912 45892979 - RF00591 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212348 chr8 74048677 74048784 + RNU6-1300P snRNA 0 0 1 7 2 2 1 0 0 ENSG00000212354 chr18 39678520 39678622 - RNU6-1242P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212358 chr12 17071398 17071505 - RNU6-837P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212359 chr4 120810469 120810569 + RNU6-550P snRNA 1 0 0 0 0 0 3 0 0 ENSG00000212360 chr1 61852499 61852602 + RNU6-1177P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212363 chr5 74882656 74882783 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212365 chr11 14134986 14135100 + RNA5SP332 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212366 chr1 72717663 72717769 - RNU6-1246P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212368 chr4 76356610 76356715 - RNU6-1000P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212370 chr5 112778363 112778469 + RNU6-482P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212371 chr14 77466284 77466436 + RF00404 snoRNA 4 1 0 7 7 2 3 0 1 ENSG00000212373 chr4 166918364 166918478 - RNA5SP171 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212374 chr15 83717427 83717522 + RNU6-401P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212377 chr13 72453902 72453967 - RF00440 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212378 chr2 72760534 72760602 + RF00592 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212379 chr16 58378052 58378148 - RNU6-269P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212380 chr15 25264510 25264590 + SNORD115-45 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212382 chr16 27863251 27863356 + RNU6-159P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212383 chr12 56861375 56861508 + RF00554 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212384 chr14 100927342 100927413 + SNORD113-2 snoRNA 767562 0 0 0 0 0 0 0 0 0 ENSG00000212385 chr1 116413766 116413869 - RNU6-817P snRNA 0 0 1 0 0 0 1 0 4 ENSG00000212387 chr4 186501109 186501215 + RNU6-1055P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212388 chr15 84939617 84939723 - RNU6-796P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212389 chr2 147877422 147877528 + RNU6-1275P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212391 chr2 226968989 226969122 - RF00554 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212392 chr3 57493667 57493780 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212395 chr9 131782860 131782958 - RF00272 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212396 chr10 93510548 93510680 - RNA5SP323 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212397 chr11 112602354 112602452 - RF00477 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212398 chr1 223690051 223690114 + RNU6-1248P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212402 chr5 173020728 173020928 + SNORA74B snoRNA Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]. 677841 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 2 4 11 3 1 4 2 0 ENSG00000212404 chr2 182828124 182828221 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212407 chr8 32911493 32911598 - RNU6-663P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212409 chr9 111097325 111097413 - RNY4P18 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212410 chr2 157985789 157985894 - RNU6-932P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212411 chr10 29575306 29575381 + RF00105 snoRNA 0 0 2 0 2 1 0 0 0 ENSG00000212413 chr10 103312436 103312568 - RNU11-3P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212414 chr8 100004583 100004649 + SNORD77B snoRNA 109616982 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212415 chr15 32970727 32970791 + RF00591 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212418 chr17 76703632 76703727 - RNY4P36 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000212420 chr15 89886485 89886591 - RNU6-1111P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212421 chr9 87260450 87260585 + RF00568 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212422 chr7 10222797 10223011 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212424 chr15 44884616 44884780 + RNU1-119P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212425 chr2 137512098 137512210 - RNA5SP105 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212428 chr15 25159221 25159279 + RF00105 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212429 chr8 80749561 80749693 - RNU11-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212432 chr12 9445058 9445205 + RF00072 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212433 chr8 10686569 10686687 + RNA5SP252 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212434 chrX 69692956 69693155 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212440 chr12 9286673 9286822 - RF00072 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212441 chr9 40233923 40234029 + RNU6-1269P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212442 chr3 35256840 35256946 - RNU6-243P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212443 chr12 98599635 98599883 + SNORA53 snoRNA 677832 GO:0005730, nucleolus, GO:0006396, RNA processing, 6 2 7 3 12 16 5 2 14 ENSG00000212445 chr16 68189287 68189421 + RF00554 snoRNA 0 0 0 0 0 0 3 0 0 ENSG00000212446 chr17 44135883 44135989 - RNU6-131P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212447 chr9 122880213 122880323 - SNORD90 snoRNA 692206 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212448 chr12 95617689 95617786 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212450 chr7 45789585 45789688 + RNU6-241P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212451 chr8 126671522 126671654 + RNU11-4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212452 chr3 52692736 52692812 + SNORD69 snoRNA 692109 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 0 4 4 0 2 2 ENSG00000212454 chr9 73750972 73751077 - RNA5SP286 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212455 chr2 18040606 18040733 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212457 chr5 116188455 116188552 - RNU6-644P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212458 chr4 1118884 1119013 + RF00554 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212459 chr1 90253456 90253559 - RNU6-695P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212460 chr5 138116573 138116680 + RNU6-460P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212461 chr12 71639355 71639483 + RF00560 snoRNA 0 0 1 0 0 0 0 0 0 ENSG00000212464 chr10 100237156 100237302 - SNORA12 snoRNA Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]. 677800 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 0 2 0 0 0 4 7 ENSG00000212466 chr11 102313722 102313829 + RNU6-952P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212468 chr6 46018745 46018851 + RNU6-754P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212469 chr17 56871170 56871276 + RNU6-1158P snRNA 3 0 0 0 0 0 1 0 0 ENSG00000212473 chr8 70077906 70078032 - RNU1-101P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212475 chr12 33576095 33576200 + RNU6-400P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212479 chr21 29180425 29180639 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212482 chr7 79343266 79343372 - RNU6-530P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212485 chr8 74079537 74079643 + RNU6-1197P snRNA 0 0 3 0 0 0 0 0 0 ENSG00000212489 chr3 190165417 190165523 - RNU6-1109P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212490 chr4 52748137 52748259 + RF00568 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212493 chr3 52689248 52689315 + SNORD19 snoRNA 0 0 0 1 3 0 0 0 7 ENSG00000212495 chrX 94003815 94003922 - RNU6-332P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212496 chr12 50256238 50256344 - RNU6-1093P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212497 chr19 12027913 12028021 - RNA5SP465 rRNA_pseudogene 0 0 0 0 0 1 0 1 0 ENSG00000212498 chr20 2656097 2656182 + SNORD86 snoRNA 692201 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212499 chr10 12924679 12924785 - RNA5SP300 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212505 chr10 8656716 8656831 - RNA5SP299 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212510 chrX 136773999 136774105 + RNU6-972P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212511 chr15 36852640 36852859 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212512 chr1 202070841 202070943 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212516 chr14 19422815 19422921 - RNU6-1268P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212517 chr20 5121417 5121539 - RF00568 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212518 chr14 29476784 29476912 + RNU11-5P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212520 chr10 67808502 67808608 + RNU6-1250P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212521 chr9 98032230 98032335 + RNU6-918P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212525 chr6 108252401 108252507 + RNA5SP212 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212526 chr15 30956248 30956350 - RNU6-466P snRNA 1 0 0 2 0 0 2 0 4 ENSG00000212527 chr1 163509484 163509595 + RNA5SP63 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212528 chr15 25268466 25268551 + SNORD115-47 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212529 chr5 172252334 172252478 - RF00191 snoRNA 0 0 0 1 0 0 1 0 0 ENSG00000212532 chr6 51464690 51464765 + RF00572 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212533 chr12 31076867 31077016 - RF00072 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212534 chr2 202276431 202276518 + SNORD70 snoRNA 692110 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 2 2 0 0 ENSG00000212535 chr12 95290692 95290799 + RNU6-808P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212536 chr20 5098387 5098476 - RNA5SP474 rRNA_pseudogene 0 0 0 3 1 1 1 0 0 ENSG00000212538 chr1 163923670 163923873 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212539 chr18 56957270 56957469 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212541 chr1 37991462 37991569 + RNU6-510P snRNA 2 9 9 5 6 0 3 9 2 ENSG00000212542 chr22 31305404 31305512 + RNA5SP496 rRNA_pseudogene 0 0 1 0 4 0 1 0 2 ENSG00000212545 chr7 79030240 79030345 + RNU6-337P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212546 chrX 80936434 80936540 + RNU6-995P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212549 chr12 26373598 26373733 - RNA5SP354 rRNA_pseudogene 3 0 0 0 1 2 2 1 1 ENSG00000212550 chr15 45002864 45003028 - RNU1-78P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212551 chr11 32081764 32081973 + RF00012 snoRNA 0 0 0 3 0 0 0 0 0 ENSG00000212553 chr13 39857135 39857227 - RF00108 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212555 chr20 17903762 17903861 + RNU6-192P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212556 chr3 127202372 127202473 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212558 chr2 10090205 10090319 - RF00568 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212559 chr13 94025470 94025598 - RNA5SP35 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212560 chrX 42139425 42139530 - RNU6-630P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212561 chr5 44066624 44066731 - RNU6-381P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212564 chr21 15614283 15614389 + RNU6-1326P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212565 chr17 48880840 48880967 + RF00263 snoRNA 0 0 0 0 0 0 0 1 0 ENSG00000212567 chr5 40790077 40790204 - RF00191 snoRNA 0 2 0 0 0 0 0 0 0 ENSG00000212568 chr7 66891188 66891291 + RNU6-1254P snRNA 0 0 0 0 0 0 0 1 0 ENSG00000212569 chr22 50669804 50669901 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000212571 chr20 32050588 32050705 + RNA5SP482 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212572 chr18 9617964 9618072 - RNU6-903P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212576 chr19 12106497 12106614 + RNA5SP467 rRNA_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000212579 chr6 35651818 35651945 + RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212580 chr2 49888868 49888986 - RF00072 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212581 chr2 185661774 185661906 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212584 chrX 101691580 101691685 + RNU6-587P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212586 chr6 38822307 38822404 - RF00393 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212587 chr6 110848546 110848673 + SNORA40C snoRNA 109616968 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000212588 chr4 52713249 52713370 + SNORA26 snoRNA 677810 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 0 0 4 2 3 7 0 4 ENSG00000212589 chr10 113820459 113820590 + RF00560 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212590 chr7 152609313 152609434 + RF00568 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212593 chr16 23441841 23441921 + RF00072 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212594 chr12 103592112 103592243 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212595 chrX 151026295 151026406 - RNA5SP525 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000212597 chr11 128993237 128993340 - RNU6-876P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212598 chr3 90030284 90030495 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212599 chr12 59369051 59369151 - RNU6-279P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212601 chr1 93488333 93488452 - RNA5SP53 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212604 chr15 26008940 26009074 - RF00554 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212605 chrX 71020275 71020438 - RNU1-56P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212607 chr11 8685439 8685569 + SNORA3B snoRNA Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]. 677826 GO:0005730, nucleolus, GO:0006396, RNA processing, 3 1 2 8 8 18 11 3 12 ENSG00000212608 chr3 53387713 53387836 - RF00568 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212609 chr21 19345148 19345312 + RNU1-139P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212610 chr1 218541690 218541899 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212611 chrX 114017033 114017102 + RF00088 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212612 chr14 18978847 18978953 + RNU6-1239P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212615 chr14 45088243 45088308 + RF00151 snoRNA 0 0 0 0 0 1 0 0 0 ENSG00000212618 chr17 18943999 18944073 + RF00324 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212620 chr4 79843102 79843228 + RF00072 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212623 chrX 80900757 80900864 + RNU6-493P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000212624 chr1 51724775 51724896 - RF00568 snoRNA 1 0 0 2 0 0 0 0 0 ENSG00000212625 chr15 60736769 60736886 + RNA5SP397 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212626 chr18 7301020 7301153 - RF00554 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000212628 chr7 121083700 121083813 - RNA5SP241 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212643 chr5 112891610 112893079 + ZRSR2P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212657 chr17 41307700 41309253 - KRTAP16-1 protein_coding 100505753 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212658 chr17 41301826 41302851 - KRTAP29-1 protein_coding 100533177 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212659 chr17 41265339 41266641 + KRTAP9-6 protein_coding 100507608 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212663 chrX 13980066 13988820 - AC003035.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000212664 chr15 71341158 71341712 - AC064799.1 processed_pseudogene 0 1 1 9 2 18 9 0 15 ENSG00000212694 chr12 121795267 121803906 - LINC01089 lincRNA 338799 62 76 118 57 29 65 47 35 85 ENSG00000212695 chr9 8713311 8713841 + AL583805.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000212710 chr18 22413601 22417915 - CTAGE1 protein_coding 64693 GO:0070971, GO:0016021, GO:0005789, GO:0005575, endoplasmic reticulum exit site, integral component of membrane, endoplasmic reticulum membrane, cellular_component, GO:0035459, GO:0009306, GO:0008150, GO:0006888, vesicle cargo loading, protein secretion, biological_process, endoplasmic reticulum to Golgi vesicle-mediated transport, 2 0 4 2 1 4 4 3 1 ENSG00000212712 chr18 12056676 12057822 - AP002414.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212717 chr20 31360790 31360930 + DEFB117 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212719 chr17 21428381 21574517 - C17orf51 protein_coding 339263 3 3 5 11 4 11 3 2 11 ENSG00000212721 chr17 41117181 41118360 - KRTAP4-11 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]. 653240 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212722 chr17 41105332 41106488 + KRTAP4-9 protein_coding 100132386 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042633, GO:0031424, GO:0007568, hair cycle, keratinization, aging, 0 0 0 0 0 0 0 0 0 ENSG00000212724 chr17 41059240 41060114 - KRTAP2-3 protein_coding 730755 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212725 chr17 41046541 41047316 - KRTAP2-1 protein_coding 81872 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212743 chr10 6350316 6352762 + AL137145.1 lincRNA 157 119 118 168 232 188 230 142 148 ENSG00000212747 chrX 135020504 135022529 - RTL8B protein_coding 441518 GO:0005730, nucleolus, GO:0005515, protein binding, 0 0 0 0 0 0 4 0 0 ENSG00000212766 chr15 69072926 69095820 + EWSAT1 lincRNA 283673 0 0 0 0 0 0 0 0 0 ENSG00000212769 chr10 84081429 84081995 + HMGN2P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212789 chr11 18261982 18263091 + ST13P5 processed_pseudogene 2 4 6 1 3 5 0 11 0 ENSG00000212802 chr6 12514110 12514724 + RPL15P3 processed_pseudogene 50 71 95 192 68 148 116 75 123 ENSG00000212807 chr7 144228244 144239605 - OR2A42 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 402317 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 1 0 2 7 1 0 0 1 0 ENSG00000212829 chr9 9090898 9091245 + RPS26P3 processed_pseudogene 0 0 0 0 0 25 1 3 17 ENSG00000212855 chrY 9740584 9758476 + TTTY2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000212856 chrY 6406244 6424145 - TTTY2B lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000212864 chr9 137220247 137221581 - RNF208 protein_coding 727800 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0046872, GO:0005515, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0051865, protein autoubiquitination, 2 0 0 0 0 2 0 1 0 ENSG00000212899 chr17 40993430 40994133 - KRTAP3-3 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 85293 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212900 chr17 40999193 40999894 - KRTAP3-2 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 83897 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212901 chr17 41008521 41019324 - KRTAP3-1 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 83896 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, GO:0005198, protein binding, structural molecule activity, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212907 chrM 10470 10766 + MT-ND4L protein_coding 4539 GO:0030964, GO:0016021, GO:0005747, GO:0005747, NADH dehydrogenase complex, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, GO:0008137, GO:0008137, NADH dehydrogenase (ubiquinone) activity, NADH dehydrogenase (ubiquinone) activity, GO:0006120, mitochondrial electron transport, NADH to ubiquinone, 789 571 669 1890 1084 1106 1503 734 871 ENSG00000212916 chr1 232804892 232808407 + MAP10 protein_coding 54627 GO:1990023, GO:1990023, GO:0097431, GO:0097431, GO:0030496, GO:0030496, GO:0005881, GO:0005881, GO:0005813, GO:0005813, mitotic spindle midzone, mitotic spindle midzone, mitotic spindle pole, mitotic spindle pole, midbody, midbody, cytoplasmic microtubule, cytoplasmic microtubule, centrosome, centrosome, GO:0008017, GO:0008017, microtubule binding, microtubule binding, GO:0051301, GO:0051256, GO:0051256, GO:0032886, GO:0032467, GO:0032467, GO:0031122, GO:0031122, cell division, mitotic spindle midzone assembly, mitotic spindle midzone assembly, regulation of microtubule-based process, positive regulation of cytokinesis, positive regulation of cytokinesis, cytoplasmic microtubule organization, cytoplasmic microtubule organization, 0 0 1 9 2 4 3 2 3 ENSG00000212930 chr5 91223419 91223967 + AC093281.1 lincRNA 6 11 2 6 11 2 4 8 14 ENSG00000212932 chr21 46690764 46691226 + RPL23AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212933 chr21 44654213 44654659 - KRTAP12-4 protein_coding 386684 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212935 chr21 44557790 44558760 - KRTAP10-3 protein_coding This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]. 386682 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 2 0 0 0 1 0 0 0 ENSG00000212938 chr21 30592440 30593075 + KRTAP6-3 protein_coding 337968 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000212939 chr22 49548681 49556473 + Z97192.1 lincRNA 4 3 6 5 1 2 0 3 0 ENSG00000212951 chr9 62532397 62532853 - BX005266.1 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000212952 chr9 42568865 42569315 + BX088651.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212961 chr11 74354443 74355720 + HNRNPA1P40 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000212978 chr2 61141592 61144969 - AC016747.1 processed_transcript 339803 7 6 5 8 12 8 12 3 3 ENSG00000212989 chr8 72429620 72430112 + AC124293.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000212993 chr8 127322183 127420066 + POU5F1B protein_coding This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]. 5462 GO:0005829, GO:0005739, GO:0005654, GO:0000785, GO:0000785, cytosol, mitochondrion, nucleoplasm, chromatin, chromatin, GO:0003700, GO:0003677, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2 0 1 1 3 6 2 0 10 ENSG00000212994 chr8 100895771 100896118 + RPS26P6 processed_pseudogene 0 0 1 1 0 0 0 0 1 ENSG00000213003 chr8 70273369 70273837 + BTF3P12 processed_pseudogene 4 4 6 7 8 10 3 1 6 ENSG00000213005 chr8 66767400 66768005 - PTTG3P processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000213013 chr19 58216180 58216561 + RPS15AP36 processed_pseudogene 0 0 0 2 5 0 3 2 0 ENSG00000213014 chr19 56317177 56318008 - VN2R17P processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000213015 chr19 55635016 55643469 + ZNF580 protein_coding 51157 GO:0005654, GO:0005634, GO:0005634, GO:0000785, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0070301, GO:0045944, GO:0032757, GO:0010628, GO:0010595, GO:0006954, GO:0006935, GO:0006357, GO:0002690, GO:0001938, cellular response to hydrogen peroxide, positive regulation of transcription by RNA polymerase II, positive regulation of interleukin-8 production, positive regulation of gene expression, positive regulation of endothelial cell migration, inflammatory response, chemotaxis, regulation of transcription by RNA polymerase II, positive regulation of leukocyte chemotaxis, positive regulation of endothelial cell proliferation, 73 109 113 97 147 131 70 90 105 ENSG00000213016 chr19 54521723 54522031 + AC245036.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213018 chrX 71420083 71420514 - AL590762.1 processed_pseudogene 3 3 9 0 5 5 4 2 5 ENSG00000213020 chr19 52702813 52735073 - ZNF611 protein_coding 81856 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 211 162 223 232 270 238 263 165 217 ENSG00000213022 chr19 51003111 51009634 - KLK9 protein_coding The protein encoded by this gene is a kallikrein-related serine protease. This gene is activated by steroid hormones in a human breast cancer cell line, making it a good marker for cancer detection. The encoded protein is found primarily in the cytoplasm.[provided by RefSeq, Oct 2010]. 284366 GO:0030141, GO:0005576, secretory granule, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000213023 chr19 50621307 50639827 - SYT3 protein_coding 84258 GO:0098793, GO:0070382, GO:0030658, GO:0016021, GO:0005886, GO:0005768, presynapse, exocytic vesicle, transport vesicle membrane, integral component of membrane, plasma membrane, endosome, GO:0030276, GO:0019905, GO:0005544, GO:0005544, GO:0005515, GO:0005509, GO:0001786, GO:0000149, clathrin binding, syntaxin binding, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, phosphatidylserine binding, SNARE binding, GO:1903861, GO:0071277, GO:0017158, GO:0017156, GO:0016192, GO:0014059, positive regulation of dendrite extension, cellular response to calcium ion, regulation of calcium ion-dependent exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, regulation of dopamine secretion, 0 0 0 0 0 0 0 0 0 ENSG00000213024 chr19 49906825 49929763 - NUP62 protein_coding The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]. 23636 GO:1990904, GO:0090543, GO:0072686, GO:0044613, GO:0043657, GO:0031965, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005643, GO:0005642, GO:0005635, GO:0005635, GO:0000922, ribonucleoprotein complex, Flemming body, mitotic spindle, nuclear pore central transport channel, host cell, nuclear membrane, centrosome, cytoplasm, cytoplasm, nucleoplasm, nuclear pore, annulate lamellae, nuclear envelope, nuclear envelope, spindle pole, GO:0051879, GO:0051425, GO:0044877, GO:0043130, GO:0042169, GO:0030544, GO:0030159, GO:0019894, GO:0017056, GO:0005543, GO:0005515, GO:0003682, Hsp90 protein binding, PTB domain binding, protein-containing complex binding, ubiquitin binding, SH2 domain binding, Hsp70 protein binding, signaling receptor complex adaptor activity, kinesin binding, structural constituent of nuclear pore, phospholipid binding, protein binding, chromatin binding, GO:1904781, GO:1903438, GO:1900034, GO:0098534, GO:0075733, GO:0060964, GO:0060236, GO:0046601, GO:0046580, GO:0046578, GO:0045893, GO:0045840, GO:0045742, GO:0043407, GO:0043123, GO:0043069, GO:0043066, GO:0042306, GO:0042059, GO:0019083, GO:0016925, GO:0016032, GO:0009966, GO:0008285, GO:0008219, GO:0007569, GO:0007283, GO:0007166, GO:0007166, GO:0007100, GO:0007098, GO:0007080, GO:0006606, GO:0006409, GO:0006406, GO:0006405, GO:0006110, positive regulation of protein localization to centrosome, positive regulation of mitotic cytokinetic process, regulation of cellular response to heat, centriole assembly, intracellular transport of virus, regulation of gene silencing by miRNA, regulation of mitotic spindle organization, positive regulation of centriole replication, negative regulation of Ras protein signal transduction, regulation of Ras protein signal transduction, positive regulation of transcription, DNA-templated, positive regulation of mitotic nuclear division, positive regulation of epidermal growth factor receptor signaling pathway, negative regulation of MAP kinase activity, positive regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of programmed cell death, negative regulation of apoptotic process, regulation of protein import into nucleus, negative regulation of epidermal growth factor receptor signaling pathway, viral transcription, protein sumoylation, viral process, regulation of signal transduction, negative regulation of cell population proliferation, cell death, cell aging, spermatogenesis, cell surface receptor signaling pathway, cell surface receptor signaling pathway, mitotic centrosome separation, centrosome cycle, mitotic metaphase plate congression, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, regulation of glycolytic process, 120 90 161 112 121 193 90 111 131 ENSG00000213025 chr10 68632371 68632727 + COX20P1 processed_pseudogene 0 1 0 9 1 4 0 0 7 ENSG00000213026 chr1 241993185 241993682 + CFL1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213028 chr1 229688999 229689904 - AL354983.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213029 chr1 229304857 229305504 + SPHAR protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000213030 chr19 49047638 49049106 - CGB8 protein_coding This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 8 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]. 94115 0 0 0 0 0 0 0 0 0 ENSG00000213032 chr1 225964179 225964428 + NDUFA3P3 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000213033 chr1 220266706 220267917 - AURKAP1 transcribed_processed_pseudogene 0 2 2 6 13 5 7 4 12 ENSG00000213035 chr19 47794467 47794890 - RPL23AP80 processed_pseudogene 0 0 0 0 0 0 0 0 7 ENSG00000213036 chr1 214482813 214483387 - AL445305.1 processed_pseudogene 0 1 0 0 1 0 0 1 0 ENSG00000213041 chr1 205202191 205202742 + AC093422.1 processed_pseudogene 0 0 0 1 1 1 0 1 0 ENSG00000213045 chr1 200329161 200329677 + AC097065.1 processed_pseudogene 3 0 1 0 0 11 7 3 3 ENSG00000213046 chr1 197688760 197690627 + EEF1A1P32 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213047 chr1 197504748 197775696 - DENND1B protein_coding Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]. 163486 GO:0043231, GO:0030136, GO:0016607, GO:0016607, GO:0005829, GO:0005829, GO:0005829, intracellular membrane-bounded organelle, clathrin-coated vesicle, nuclear speck, nuclear speck, cytosol, cytosol, cytosol, GO:1901981, GO:0005085, GO:0005085, phosphatidylinositol phosphate binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0050852, GO:0050852, GO:0050776, GO:0043547, GO:0035745, GO:0035745, GO:0032456, GO:0032456, GO:0015031, GO:0006897, T cell receptor signaling pathway, T cell receptor signaling pathway, regulation of immune response, positive regulation of GTPase activity, T-helper 2 cell cytokine production, T-helper 2 cell cytokine production, endocytic recycling, endocytic recycling, protein transport, endocytosis, 188 140 276 178 105 195 251 80 150 ENSG00000213048 chr2 240109102 240110052 + OR5S1P unitary_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000213049 chr12 9027532 9029089 - HNRNPA1P34 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000213050 chr7 116972165 116972911 - TPM3P1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000213051 chr1 185226808 185227700 - RPL5P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213055 chr2 232729523 232730198 - EEF1B2P7 processed_pseudogene 0 0 0 0 0 6 0 1 6 ENSG00000213057 chr1 178542752 178548889 + C1orf220 lincRNA 400798 1 0 1 0 1 0 3 0 0 ENSG00000213058 chr1 178411616 178411972 + AL365357.1 processed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000213060 chr1 171803517 171803939 + AL031864.1 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000213061 chr10 102838011 102845473 - PFN1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213062 chr1 169486076 169486986 + AL021068.1 lincRNA 1 0 0 4 4 10 4 3 0 ENSG00000213063 chr1 168938467 168938923 + RPL29P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213064 chr1 168225938 168253025 + SFT2D2 protein_coding 375035 GO:0070062, GO:0016021, extracellular exosome, integral component of membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0016192, GO:0015031, GO:0008150, vesicle-mediated transport, protein transport, biological_process, 517 573 952 335 476 848 445 333 706 ENSG00000213065 chr6 167767083 167768568 - AL009178.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213066 chr6 166999182 167094789 + FGFR1OP protein_coding This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]. 11116 GO:0048471, GO:0042995, GO:0005829, GO:0005814, GO:0005813, GO:0005813, GO:0005634, perinuclear region of cytoplasm, cell projection, cytosol, centriole, centrosome, centrosome, nucleus, GO:0042803, GO:0030292, GO:0019901, GO:0005515, protein homodimerization activity, protein tyrosine kinase inhibitor activity, protein kinase binding, protein binding, GO:0097711, GO:0061099, GO:0034453, GO:0030335, GO:0030307, GO:0010389, GO:0008284, GO:0006469, GO:0000086, ciliary basal body-plasma membrane docking, negative regulation of protein tyrosine kinase activity, microtubule anchoring, positive regulation of cell migration, positive regulation of cell growth, regulation of G2/M transition of mitotic cell cycle, positive regulation of cell population proliferation, negative regulation of protein kinase activity, G2/M transition of mitotic cell cycle, 244 267 532 304 310 566 324 239 479 ENSG00000213067 chr7 56597379 56598342 + AC092447.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000213068 chr1 167162423 167162837 - AL451050.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213069 chr2 177197985 177198547 + KRT8P40 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000213070 chr1 164356767 164357364 + HMGB3P6 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000213071 chr6 160453428 160520269 - LPAL2 transcribed_unprocessed_pseudogene Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Consequently, this gene is considered to be a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. 80350 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0005515, GO:0004252, GO:0003674, protein binding, serine-type endopeptidase activity, molecular_function, GO:0008150, GO:0006508, biological_process, proteolysis, 2 1 7 14 1 21 5 4 10 ENSG00000213073 chr6 160093082 160096212 + AL353625.1 transcribed_processed_pseudogene This locus on chromosome 6q25.3 represents a single-exon transcribed pseudogene of the multi-exon calcium binding protein P22 gene which resides on chromosome 15q13.3. This pseudogene is situated within an intron region of the insulin-like growth factor 2 receptor gene (IGF2R). [provided by RefSeq, Jan 2009]. 729603 433 657 412 462 837 522 544 553 470 ENSG00000213075 chr1 161683695 161685252 - RPL31P11 transcribed_processed_pseudogene 641311 0 1 2 0 0 1 0 1 0 ENSG00000213076 chr6 158921271 158922150 - AL627422.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000213078 chr6 157365990 157366923 - AL390955.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213079 chr6 154733325 154834244 + SCAF8 protein_coding 22828 GO:0016363, GO:0005849, GO:0005737, GO:0005654, GO:0005634, nuclear matrix, mRNA cleavage factor complex, cytoplasm, nucleoplasm, nucleus, GO:1990269, GO:0043175, GO:0005515, GO:0003729, GO:0003723, GO:0000993, RNA polymerase II C-terminal domain phosphoserine binding, RNA polymerase core enzyme binding, protein binding, mRNA binding, RNA binding, RNA polymerase II complex binding, GO:2000805, GO:0032786, GO:0006378, GO:0006369, negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled, positive regulation of DNA-templated transcription, elongation, mRNA polyadenylation, termination of RNA polymerase II transcription, 704 629 792 540 596 756 604 453 498 ENSG00000213080 chr1 160894980 160896076 + AL354714.2 processed_pseudogene 8 13 12 12 8 11 7 21 10 ENSG00000213081 chr2 208360631 208361369 - AC012362.1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000213082 chr2 207681590 207682033 + PPP1R14BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213083 chr2 206686517 206687362 - AC010731.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213085 chr1 159872364 159900163 - CFAP45 protein_coding 25790 GO:0005929, GO:0005654, GO:0005634, cilium, nucleoplasm, nucleus, GO:0005515, protein binding, 350 418 326 386 652 447 461 499 307 ENSG00000213087 chr6 151225550 151225947 - AL356535.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213088 chr1 159203307 159206500 + ACKR1 protein_coding The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 2532 GO:0055037, GO:0016021, GO:0005886, GO:0005769, recycling endosome, integral component of membrane, plasma membrane, early endosome, GO:0038023, GO:0019957, GO:0019957, GO:0004930, GO:0004888, signaling receptor activity, C-C chemokine binding, C-C chemokine binding, G protein-coupled receptor activity, transmembrane signaling receptor activity, GO:0070098, GO:0032642, GO:0007186, GO:0006954, GO:0006952, chemokine-mediated signaling pathway, regulation of chemokine production, G protein-coupled receptor signaling pathway, inflammatory response, defense response, 0 0 0 0 0 0 0 0 0 ENSG00000213089 chr6 150827663 150828384 + PDCL3P5 processed_pseudogene 0 0 0 1 4 0 3 1 3 ENSG00000213090 chr2 201410544 201413308 - AC007256.1 processed_pseudogene 2 7 8 6 7 10 14 3 2 ENSG00000213091 chr6 150042546 150043353 + PHBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213096 chr19 24033405 24129961 + ZNF254 protein_coding Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]. 9534 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 135 59 113 74 17 62 43 16 50 ENSG00000213100 chrX 45983365 45984364 + KRT18P68 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213104 chr2 197379701 197380892 - NPM1P46 processed_pseudogene 0 0 0 4 1 0 0 1 0 ENSG00000213107 chr2 195582794 195584031 - AHCYP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213108 chr6 137543897 137544372 - BTF3L4P3 processed_pseudogene 0 0 2 0 0 0 0 1 0 ENSG00000213109 chr6 136900233 136901529 - AL365223.1 transcribed_processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000213110 chr2 189930277 189931010 - AC019178.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213111 chr6 136034553 136034886 - COX5BP2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213113 chr3 198119721 198120778 + TUBB8P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213115 chr2 188227189 188228382 + AC104131.1 processed_pseudogene 0 1 0 0 0 0 0 1 0 ENSG00000213117 chr6 134897874 134898759 + AL021939.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213118 chr6 134393142 134393900 - CHCHD2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213120 chr2 183260642 183261046 + LIN28AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213121 chr6 153231320 153347488 + AL590867.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000213122 chr6 132997551 132998040 - RPL23AP46 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000213123 chr3 196291219 196318299 - TCTEX1D2 protein_coding Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]. 255758 GO:0097546, GO:0031021, GO:0005930, GO:0005868, GO:0005813, GO:0000922, ciliary base, interphase microtubule organizing center, axoneme, cytoplasmic dynein complex, centrosome, spindle pole, GO:0045505, GO:0005515, dynein intermediate chain binding, protein binding, GO:1905799, GO:1902017, GO:0060271, GO:0035721, regulation of intraciliary retrograde transport, regulation of cilium assembly, cilium assembly, intraciliary retrograde transport, 0 0 1 6 1 0 2 6 0 ENSG00000213126 chr2 179814251 179814675 + AC092642.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213128 chr17 80542203 80542605 + RPL32P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213130 chr6 128580113 128580884 - EEF1DP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213131 chr6 127355756 127356789 + YWHAZP4 processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000213133 chr6 126257921 126258355 - PPP1R14BP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213137 chr12 120845110 120845647 - ARF1P2 processed_pseudogene 1 2 0 0 1 0 1 0 0 ENSG00000213139 chr3 186538441 186546702 - CRYGS protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]. 1427 GO:0005515, GO:0005212, protein binding, structural constituent of eye lens, GO:0007601, GO:0002088, GO:0002009, visual perception, lens development in camera-type eye, morphogenesis of an epithelium, 3 5 3 9 0 12 1 3 8 ENSG00000213140 chr14 105672308 105673314 - ELK2AP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213144 chr12 119194850 119195394 + AC084880.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000213145 chr14 105486317 105488947 + CRIP1 protein_coding Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008]. 1396 GO:0005737, cytoplasm, GO:0042277, GO:0008270, GO:0008270, peptide binding, zinc ion binding, zinc ion binding, GO:0071493, GO:0071236, GO:0060741, GO:0010468, GO:0010468, GO:0010043, GO:0010033, GO:0008630, GO:0008630, GO:0007507, GO:0006955, cellular response to UV-B, cellular response to antibiotic, prostate gland stromal morphogenesis, regulation of gene expression, regulation of gene expression, response to zinc ion, response to organic substance, intrinsic apoptotic signaling pathway in response to DNA damage, intrinsic apoptotic signaling pathway in response to DNA damage, heart development, immune response, 18 15 21 22 6 56 21 6 30 ENSG00000213147 chr10 133778246 133778699 + RPL23AP60 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213148 chr2 173431349 173431812 - AC073465.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213149 chr6 110858239 110859147 + CNN2P9 processed_pseudogene 26 15 18 11 32 22 22 14 13 ENSG00000213150 chr6 110645699 110646558 + AL512430.1 processed_pseudogene 5 8 4 3 0 3 0 6 10 ENSG00000213152 chr12 112301870 112302663 - RPL7AP60 processed_pseudogene 2 1 3 0 6 0 5 6 0 ENSG00000213153 chr11 133864877 133865627 - AP001979.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213155 chr3 181866351 181867154 - AC007547.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213157 chr3 180887677 180888075 - AC108734.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213158 chr3 180212191 180213108 + GAPDHP36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213159 chr14 104450979 104451433 + CEND1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213160 chr2 169694488 169776989 + KLHL23 protein_coding 151230 GO:0005515, protein binding, 0 1 3 3 3 2 3 0 2 ENSG00000213167 chr7 116320751 116321031 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000213169 chr3 174377244 174378005 + AC069218.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213170 chr10 126272818 126273411 + SAR1AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213171 chr1 151800264 151806154 - LINGO4 protein_coding 339398 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, 0 0 0 0 0 0 3 1 3 ENSG00000213172 chr1 40364766 40365183 + AL031985.1 processed_pseudogene 0 0 0 0 0 0 2 1 0 ENSG00000213174 chr3 170653846 170654259 - AC026316.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213176 chr14 103041469 103042094 + RPL13P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213177 chr6 100136064 100136663 + PRDX2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213178 chr3 169483671 169484080 - RPL22P1 processed_pseudogene 41 10 62 116 46 86 76 38 82 ENSG00000213179 chr17 67784753 67785293 + RPL17P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213180 chr17 67224728 67225041 + RPL36AP48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213181 chr11 124104965 124111092 - OR10N1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213182 chr11 124054793 124055707 + OR10D5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213183 chr6 96648489 96649069 - RPS7P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213184 chr11 123017638 123018661 + AP003040.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213185 chr10 122849078 122879641 - FAM24B protein_coding 196792 GO:0005576, extracellular region, GO:0005515, protein binding, 0 3 0 6 0 0 0 1 0 ENSG00000213186 chr3 160432445 160485773 - TRIM59 protein_coding 286827 GO:0030992, GO:0016021, GO:0005789, GO:0005783, intraciliary transport particle B, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0061630, GO:0008270, GO:0005515, ubiquitin protein ligase activity, zinc ion binding, protein binding, GO:0046597, GO:0045087, GO:0043124, GO:0043124, GO:0016567, negative regulation of viral entry into host cell, innate immune response, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of I-kappaB kinase/NF-kappaB signaling, protein ubiquitination, 221 188 268 302 250 405 267 181 286 ENSG00000213187 chr6 93091976 93092760 - COPS5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213188 chr7 152128879 152129686 + YBX1P4 processed_pseudogene 1 1 5 1 1 3 8 0 6 ENSG00000213189 chr2 159003975 159004320 + BTF3L4P2 processed_pseudogene 7 9 18 3 9 12 9 15 20 ENSG00000213190 chr1 151057758 151068497 + MLLT11 protein_coding The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]. 10962 GO:0005829, GO:0005829, GO:0005815, GO:0005654, GO:0005654, cytosol, cytosol, microtubule organizing center, nucleoplasm, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097193, GO:0097191, GO:0090200, GO:0090200, GO:0051901, GO:0051901, GO:0045893, GO:0045893, GO:0043065, intrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, positive regulation of release of cytochrome c from mitochondria, positive regulation of release of cytochrome c from mitochondria, positive regulation of mitochondrial depolarization, positive regulation of mitochondrial depolarization, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of apoptotic process, 1492 1739 2276 625 1073 1297 778 833 1135 ENSG00000213194 chr2 157210847 157211539 - CDK7P1 processed_pseudogene 1 3 3 1 0 1 0 3 1 ENSG00000213197 chr2 152389937 152390630 + AC012066.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213199 chr7 151048292 151052756 + ASIC3 protein_coding This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]. 9311 GO:0048471, GO:0005887, GO:0005886, perinuclear region of cytoplasm, integral component of plasma membrane, plasma membrane, GO:0044736, GO:0042931, GO:0015280, GO:0005272, GO:0005261, acid-sensing ion channel activity, enterobactin transmembrane transporter activity, ligand-gated sodium channel activity, sodium channel activity, cation channel activity, GO:0050968, GO:0050966, GO:0050965, GO:0050915, GO:0042930, GO:0035725, GO:0034220, GO:0010447, GO:0009408, GO:0007600, GO:0007165, detection of chemical stimulus involved in sensory perception of pain, detection of mechanical stimulus involved in sensory perception of pain, detection of temperature stimulus involved in sensory perception of pain, sensory perception of sour taste, enterobactin transport, sodium ion transmembrane transport, ion transmembrane transport, response to acidic pH, response to heat, sensory perception, signal transduction, 1 9 4 9 9 2 3 4 5 ENSG00000213201 chr2 151186188 151186595 + FABP5P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213203 chr7 150716557 150724284 + GIMAP1 protein_coding This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene is thought to be involved in the differentiation of T helper (Th) cells of the Th1 lineage, and the related mouse gene has been shown to be critical for the development of mature B and T lymphocytes. Read-through transcription exists between this gene and the downstream GIMAP5 (GTPase, IMAP family member 5) gene. [provided by RefSeq, Dec 2010]. 170575 GO:0016021, GO:0005789, GO:0005783, GO:0005783, GO:0000139, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, Golgi membrane, GO:0005525, GO:0005515, GTP binding, protein binding, 47 27 108 102 37 144 71 47 108 ENSG00000213204 chr6 87408012 87511634 + AL049697.1 protein_coding 0 4 2 4 2 3 3 1 4 ENSG00000213205 chr7 150512559 150513839 - STRADBP1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000213209 chr7 148637179 148637587 + AC005229.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213210 chr7 148580401 148580799 + AC005229.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213211 chr6 85287789 85289007 + KRT18P64 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000213212 chr9 136812788 136815536 - NCLP1 processed_pseudogene 1 0 0 0 1 1 0 3 0 ENSG00000213213 chr9 136796350 136807741 + CCDC183 protein_coding 84960 4 3 2 1 4 8 7 2 2 ENSG00000213214 chr7 144186083 144195655 - ARHGEF35 protein_coding 445328 2 5 3 3 0 10 5 0 3 ENSG00000213215 chr7 143954844 143997312 + OR2F1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 26211 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000213216 chr9 123029373 123029753 - AC007066.1 processed_pseudogene 0 2 0 1 1 0 0 1 0 ENSG00000213218 chr17 63872012 63873766 - CSH2 protein_coding The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008]. 1443 GO:0031982, GO:0005783, GO:0005615, vesicle, endoplasmic reticulum, extracellular space, GO:0046872, GO:0008083, GO:0005515, GO:0005179, GO:0005131, metal ion binding, growth factor activity, protein binding, hormone activity, growth hormone receptor binding, GO:0060396, GO:0048513, GO:0046427, GO:0045927, GO:0042531, GO:0031667, growth hormone receptor signaling pathway, animal organ development, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of growth, positive regulation of tyrosine phosphorylation of STAT protein, response to nutrient levels, 0 0 0 0 0 0 0 0 0 ENSG00000213221 chr9 136359480 136363789 - DNLZ protein_coding 728489 GO:0005739, GO:0005739, GO:0005654, mitochondrion, mitochondrion, nucleoplasm, GO:0051087, GO:0008270, chaperone binding, zinc ion binding, GO:0050821, GO:0030150, GO:0006457, protein stabilization, protein import into mitochondrial matrix, protein folding, 8 4 4 0 0 0 2 0 0 ENSG00000213222 chr2 131723253 131724279 - AC093724.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213225 chr2 130229379 130232106 + NOC2LP1 transcribed_processed_pseudogene 0 0 1 0 1 3 0 0 0 ENSG00000213226 chr1 147319110 147320224 + AC242426.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213228 chr17 60433678 60435996 - RPL12P38 transcribed_processed_pseudogene 0 2 0 2 1 4 4 1 1 ENSG00000213231 chr14 95686417 95692643 + TCL1B protein_coding 9623 GO:0032991, protein-containing complex, GO:0043539, GO:0043539, GO:0019901, GO:0005515, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, protein kinase binding, protein binding, GO:0071902, GO:0033138, GO:0033138, positive regulation of protein serine/threonine kinase activity, positive regulation of peptidyl-serine phosphorylation, positive regulation of peptidyl-serine phosphorylation, 0 0 0 0 0 0 0 1 0 ENSG00000213232 chr13 63811014 63811608 - PPP1R2P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213233 chr11 112461468 112461920 - RPL23AP62 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213234 chr11 112267290 112268371 - ST13P10 processed_pseudogene 0 1 1 0 0 0 0 2 1 ENSG00000213235 chr12 16990670 16992083 + EEF1A1P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213236 chr2 126557435 126558162 - YWHAZP2 processed_pseudogene 4 1 3 3 0 3 3 4 0 ENSG00000213237 chr7 138404195 138404523 - AC008155.1 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000213238 chr7 138298088 138298484 - AC008155.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213239 chr2 121708512 121709115 - NPM1P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213240 chr1 146113652 146229000 - AC239799.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000213244 chr1 121118195 121118610 - HIST2H3DP1 unprocessed_pseudogene 0 0 0 4 3 0 1 4 1 ENSG00000213246 chr17 58345175 58353093 - SUPT4H1 protein_coding This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]. 6827 GO:0032044, GO:0032044, GO:0005654, GO:0005654, DSIF complex, DSIF complex, nucleoplasm, nucleoplasm, GO:0046982, GO:0008270, GO:0005515, GO:0000993, protein heterodimerization activity, zinc ion binding, protein binding, RNA polymerase II complex binding, GO:0050434, GO:0045944, GO:0034244, GO:0034243, GO:0032786, GO:0032785, GO:0006397, GO:0006368, GO:0006368, GO:0006366, GO:0006355, GO:0006325, GO:0000122, positive regulation of viral transcription, positive regulation of transcription by RNA polymerase II, negative regulation of transcription elongation from RNA polymerase II promoter, regulation of transcription elongation from RNA polymerase II promoter, positive regulation of DNA-templated transcription, elongation, negative regulation of DNA-templated transcription, elongation, mRNA processing, transcription elongation from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, transcription by RNA polymerase II, regulation of transcription, DNA-templated, chromatin organization, negative regulation of transcription by RNA polymerase II, 14 16 30 51 23 44 36 7 58 ENSG00000213247 chr10 111104956 111105248 + AL355863.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213250 chr12 94423744 94424969 - RBMS2P1 processed_pseudogene 1 1 0 1 2 0 2 3 0 ENSG00000213252 chr11 106826392 106827890 - AP001282.1 processed_pseudogene 2 0 2 1 2 0 0 0 4 ENSG00000213253 chr19 13157959 13158788 - RPL12P42 processed_pseudogene 1 0 0 6 0 0 1 1 0 ENSG00000213260 chr10 105686322 105687051 + YWHAZP5 processed_pseudogene 6 4 3 3 0 3 1 1 1 ENSG00000213261 chr7 131661952 131662624 - EEF1B2P6 processed_pseudogene 1 0 0 1 0 0 3 0 1 ENSG00000213262 chr1 117640812 117641639 - VDAC2P3 processed_pseudogene 1 0 1 2 0 0 1 2 4 ENSG00000213264 chr3 132401253 132401796 + NIP7P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213265 chr7 130668648 130687432 - TSGA13 protein_coding 114960 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000213269 chrX 74376125 74376885 - AC004386.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213270 chr12 83151331 83152190 + RPL6P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213272 chr12 76599671 76600470 + RPL7AP9 processed_pseudogene 0 0 0 0 0 1 3 0 0 ENSG00000213275 chr11 69303412 69303807 - IFITM9P processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000213277 chr10 103175554 103176094 + MARCKSL1P1 processed_pseudogene 4 8 7 4 8 7 3 5 7 ENSG00000213279 chr22 49572264 49575426 - Z97192.2 lincRNA 8 7 8 2 9 6 9 2 10 ENSG00000213280 chr7 128570241 128570688 - AC090114.1 processed_pseudogene 0 1 2 0 0 2 1 0 6 ENSG00000213281 chr1 114704469 114716894 - NRAS protein_coding This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]. 4893 GO:0070821, GO:0070062, GO:0016020, GO:0005886, GO:0005886, GO:0005794, GO:0000139, tertiary granule membrane, extracellular exosome, membrane, plasma membrane, plasma membrane, Golgi apparatus, Golgi membrane, GO:0044877, GO:0019003, GO:0005525, GO:0005515, GO:0003924, GO:0003924, protein-containing complex binding, GDP binding, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0043312, GO:0007265, GO:0007265, GO:0007265, GO:0002223, GO:0001938, GO:0000165, neutrophil degranulation, Ras protein signal transduction, Ras protein signal transduction, Ras protein signal transduction, stimulatory C-type lectin receptor signaling pathway, positive regulation of endothelial cell proliferation, MAPK cascade, 259 183 336 285 245 451 196 143 190 ENSG00000213285 chr5 181471963 181472430 + RPL23AP45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213287 chr11 87258851 87259259 - AP001102.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213290 chr19 12559571 12561105 + PGK1P2 processed_pseudogene 0 2 1 6 0 0 1 1 0 ENSG00000213291 chr7 125300504 125300878 - AC010099.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213293 chr19 12260126 12260537 + AC012618.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000213295 chr2 106247369 106247741 + RPL22P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213296 chr7 124480524 124481395 + AC005521.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213297 chr19 12132117 12156731 - ZNF625-ZNF20 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000213300 chr3 75214631 75215636 + HNRNPA3P6 processed_pseudogene 35 29 28 34 20 42 72 35 48 ENSG00000213301 chr2 104771282 104771885 + HMGB3P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213302 chr7 122234531 122234903 + AC015983.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213303 chr19 11523436 11523831 + AC008481.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213304 chr19 11521968 11522498 + AC008481.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213305 chr11 85020785 85021655 - HNRNPCP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213307 chr15 78661047 78661576 - RPL18P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213309 chr6 63615827 63616361 - RPL9P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213310 chr7 121398452 121398767 + CYCSP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213312 chr6 63548708 63549508 - RPL7AP34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213315 chr14 90766531 90766989 + AL122020.1 processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000213316 chr5 179793980 179796647 + LTC4S protein_coding The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. [provided by RefSeq, Jul 2008]. 4056 GO:0043231, GO:0031965, GO:0016021, GO:0005789, GO:0005789, GO:0005783, GO:0005783, GO:0005640, GO:0005635, GO:0005635, GO:0005635, intracellular membrane-bounded organelle, nuclear membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, nuclear outer membrane, nuclear envelope, nuclear envelope, nuclear envelope, GO:0042802, GO:0008289, GO:0008047, GO:0005515, GO:0004602, GO:0004464, GO:0004464, GO:0004364, identical protein binding, lipid binding, enzyme activator activity, protein binding, glutathione peroxidase activity, leukotriene-C4 synthase activity, leukotriene-C4 synthase activity, glutathione transferase activity, GO:2001301, GO:0098869, GO:0043085, GO:0042759, GO:0042759, GO:0019372, GO:0019370, GO:0006691, GO:0006691, lipoxin biosynthetic process, cellular oxidant detoxification, positive regulation of catalytic activity, long-chain fatty acid biosynthetic process, long-chain fatty acid biosynthetic process, lipoxygenase pathway, leukotriene biosynthetic process, leukotriene metabolic process, leukotriene metabolic process, 31 49 24 23 34 43 11 42 17 ENSG00000213318 chr16 75192465 75193247 - AC009078.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213326 chr17 46721582 46722167 - RPS7P11 processed_pseudogene 1 1 1 3 0 2 3 0 1 ENSG00000213328 chr5 178909710 178910609 - AC104117.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213331 chr4 187970273 187971284 + AC108073.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213332 chr4 186328716 186329601 - SLC25A5P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213333 chr11 75079265 75080131 - NPM1P50 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213335 chr6 54485169 54485850 - CLNS1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213337 chr2 96836611 96858095 - ANKRD39 protein_coding 51239 GO:0070531, GO:0031436, GO:0005575, BRCA1-A complex, BRCA1-BARD1 complex, cellular_component, GO:0004842, GO:0003674, ubiquitin-protein transferase activity, molecular_function, GO:0085020, GO:0008150, protein K6-linked ubiquitination, biological_process, 17 7 14 18 17 25 11 13 21 ENSG00000213338 chrX 154622428 154623500 - ATF4P1 processed_pseudogene 0 0 0 0 0 0 1 0 1 ENSG00000213339 chr19 10701430 10713437 + QTRT1 protein_coding This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]. 81890 GO:0032991, GO:0005741, GO:0005634, protein-containing complex, mitochondrial outer membrane, nucleus, GO:0046982, GO:0046872, GO:0042803, GO:0008479, GO:0008479, protein heterodimerization activity, metal ion binding, protein homodimerization activity, queuine tRNA-ribosyltransferase activity, queuine tRNA-ribosyltransferase activity, GO:0101030, GO:0101030, GO:0006400, GO:0006400, tRNA-guanine transglycosylation, tRNA-guanine transglycosylation, tRNA modification, tRNA modification, 6 5 27 56 12 40 24 20 40 ENSG00000213341 chr10 100188298 100229619 - CHUK protein_coding This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]. 1147 GO:0043231, GO:0035631, GO:0009898, GO:0008385, GO:0008385, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, intracellular membrane-bounded organelle, CD40 receptor complex, cytoplasmic side of plasma membrane, IkappaB kinase complex, IkappaB kinase complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:1990459, GO:0097110, GO:0046982, GO:0044877, GO:0042803, GO:0008384, GO:0008384, GO:0005524, GO:0005515, GO:0004674, GO:0004672, transferrin receptor binding, scaffold protein binding, protein heterodimerization activity, protein-containing complex binding, protein homodimerization activity, IkappaB kinase activity, IkappaB kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein kinase activity, GO:0098586, GO:0071356, GO:0071276, GO:0070498, GO:0061847, GO:0051403, GO:0051146, GO:0051092, GO:0051092, GO:0050852, GO:0045944, GO:0045944, GO:0045893, GO:0045087, GO:0043200, GO:0043123, GO:0043123, GO:0042493, GO:0038095, GO:0038061, GO:0038061, GO:0035666, GO:0034614, GO:0033209, GO:0033194, GO:0032727, GO:0032496, GO:0032088, GO:0018105, GO:0010803, GO:0010034, GO:0009653, GO:0009636, GO:0009615, GO:0007266, GO:0007252, GO:0007249, GO:0007249, GO:0006955, GO:0006954, GO:0006468, GO:0003009, GO:0002756, GO:0002479, GO:0002223, cellular response to virus, cellular response to tumor necrosis factor, cellular response to cadmium ion, interleukin-1-mediated signaling pathway, response to cholecystokinin, stress-activated MAPK cascade, striated muscle cell differentiation, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, innate immune response, response to amino acid, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, response to drug, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, NIK/NF-kappaB signaling, TRIF-dependent toll-like receptor signaling pathway, cellular response to reactive oxygen species, tumor necrosis factor-mediated signaling pathway, response to hydroperoxide, positive regulation of interferon-alpha production, response to lipopolysaccharide, negative regulation of NF-kappaB transcription factor activity, peptidyl-serine phosphorylation, regulation of tumor necrosis factor-mediated signaling pathway, response to acetate, anatomical structure morphogenesis, response to toxic substance, response to virus, Rho protein signal transduction, I-kappaB phosphorylation, I-kappaB kinase/NF-kappaB signaling, I-kappaB kinase/NF-kappaB signaling, immune response, inflammatory response, protein phosphorylation, skeletal muscle contraction, MyD88-independent toll-like receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, 808 771 1060 494 718 734 699 580 666 ENSG00000213343 chr12 66037235 66037714 + RPL21P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213344 chr12 65645992 65646462 - PCNPP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213347 chr5 177301461 177312757 - MXD3 protein_coding This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]. 83463 GO:0090575, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, chromatin, chromatin, GO:0046983, GO:0005515, GO:0001227, GO:0000981, GO:0000981, GO:0000978, GO:0000977, protein dimerization activity, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1300 1084 1837 578 793 805 628 637 623 ENSG00000213352 chr12 62755227 62756233 + GAPDHP44 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000213355 chr2 94737337 94738249 + CNN2P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213358 chr3 196527339 196528791 - AC092933.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213361 chr7 105244652 105244970 + AC004884.1 processed_pseudogene 1 1 0 0 5 2 10 1 6 ENSG00000213362 chr9 15527133 15527683 - FTH1P12 processed_pseudogene 1 1 3 2 3 11 2 2 4 ENSG00000213363 chr12 62021570 62022174 - RPS3P6 processed_pseudogene 1 4 1 8 4 3 1 2 0 ENSG00000213365 chr11 72280151 72281178 + AP000593.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213366 chr1 109668022 109709551 + GSTM2 protein_coding Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008]. 2946 GO:0070062, GO:0045171, GO:0016529, GO:0005829, GO:0005829, GO:0005737, extracellular exosome, intercellular bridge, sarcoplasmic reticulum, cytosol, cytosol, cytoplasm, GO:0043295, GO:0042803, GO:0019899, GO:0005515, GO:0005504, GO:0005102, GO:0004602, GO:0004364, GO:0004364, glutathione binding, protein homodimerization activity, enzyme binding, protein binding, fatty acid binding, signaling receptor binding, glutathione peroxidase activity, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0098869, GO:0071313, GO:0070458, GO:0060316, GO:0060315, GO:0055119, GO:0051122, GO:0043651, GO:0042178, GO:0018916, GO:0014809, GO:0010881, GO:0010880, GO:0006749, GO:0006749, glutathione derivative biosynthetic process, cellular oxidant detoxification, cellular response to caffeine, cellular detoxification of nitrogen compound, positive regulation of ryanodine-sensitive calcium-release channel activity, negative regulation of ryanodine-sensitive calcium-release channel activity, relaxation of cardiac muscle, hepoxilin biosynthetic process, linoleic acid metabolic process, xenobiotic catabolic process, nitrobenzene metabolic process, regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, glutathione metabolic process, glutathione metabolic process, 9 28 58 18 13 36 4 17 27 ENSG00000213368 chr11 94913047 94913766 + ST13P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213370 chr4 173633728 173634371 - RANP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213371 chr3 120805866 120806745 + NAP1L1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213373 chr17 42874670 42898704 - LINC00671 lincRNA 47 56 59 57 103 66 43 55 64 ENSG00000213376 chr5 174513305 174514307 + GAPDHP71 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213380 chr16 69320140 69339667 - COG8 protein_coding This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]. 84342 GO:0032588, GO:0017119, GO:0017119, GO:0017119, GO:0016020, GO:0005794, GO:0000139, trans-Golgi network membrane, Golgi transport complex, Golgi transport complex, Golgi transport complex, membrane, Golgi apparatus, Golgi membrane, GO:0005515, protein binding, GO:0015031, GO:0006891, GO:0006888, protein transport, intra-Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, 129 144 138 164 200 167 200 173 169 ENSG00000213383 chr3 17871729 17872598 - AC104297.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213384 chr20 20659710 20659964 + EIF4E2P1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000213385 chr7 102755146 102755939 + AC105052.2 processed_pseudogene 3 3 0 3 5 9 1 11 2 ENSG00000213386 chr5 172762521 172763258 - AC022217.1 processed_pseudogene 6 2 3 43 59 18 41 32 15 ENSG00000213390 chr10 97222173 97292673 - ARHGAP19 protein_coding Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]. 84986 GO:0043231, GO:0005886, GO:0005829, GO:0005737, GO:0005634, intracellular membrane-bounded organelle, plasma membrane, cytosol, cytoplasm, nucleus, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0051056, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 450 423 487 274 541 462 320 423 304 ENSG00000213393 chr5 171345343 171345630 - AC091980.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213394 chr7 101203614 101204495 - RPSAP46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213397 chrX 153447666 153495516 - HAUS7 protein_coding This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. 55559 GO:0070652, GO:0070652, GO:0005874, GO:0005829, GO:0005819, GO:0005813, HAUS complex, HAUS complex, microtubule, cytosol, spindle, centrosome, GO:0051011, GO:0031996, GO:0005515, microtubule minus-end binding, thioesterase binding, protein binding, GO:0097711, GO:0051301, GO:0051225, GO:0051225, GO:0010389, GO:0007098, GO:0007098, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, spindle assembly, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, centrosome cycle, G2/M transition of mitotic cell cycle, 1 1 5 12 6 16 4 2 0 ENSG00000213398 chr16 67939750 67944131 - LCAT protein_coding This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]. 3931 GO:0070062, GO:0034364, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, high-density lipoprotein particle, extracellular space, extracellular space, extracellular region, GO:0047179, GO:0034186, GO:0005515, GO:0004806, GO:0004607, GO:0004607, GO:0004607, GO:0004607, GO:0003847, platelet-activating factor acetyltransferase activity, apolipoprotein A-I binding, protein binding, triglyceride lipase activity, phosphatidylcholine-sterol O-acyltransferase activity, phosphatidylcholine-sterol O-acyltransferase activity, phosphatidylcholine-sterol O-acyltransferase activity, phosphatidylcholine-sterol O-acyltransferase activity, 1-alkyl-2-acetylglycerophosphocholine esterase activity, GO:0090107, GO:0046470, GO:0043691, GO:0042632, GO:0042158, GO:0034435, GO:0034375, GO:0034375, GO:0034372, GO:0030301, GO:0008203, GO:0006656, GO:0006656, GO:0006644, GO:0006629, regulation of high-density lipoprotein particle assembly, phosphatidylcholine metabolic process, reverse cholesterol transport, cholesterol homeostasis, lipoprotein biosynthetic process, cholesterol esterification, high-density lipoprotein particle remodeling, high-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, cholesterol transport, cholesterol metabolic process, phosphatidylcholine biosynthetic process, phosphatidylcholine biosynthetic process, phospholipid metabolic process, lipid metabolic process, 59 51 59 57 134 81 109 101 77 ENSG00000213399 chr2 84915868 84916660 + AC022210.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213400 chr2 84874696 84875020 + RPL12P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213401 chrX 152733779 152737669 + MAGEA12 protein_coding This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 2014]. 4111 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000213402 chr11 67435510 67438067 - PTPRCAP protein_coding The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008]. 5790 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0006952, defense response, 0 0 0 0 0 0 0 0 0 ENSG00000213403 chr2 19826249 19826575 + CISD1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213406 chr4 153307792 153308717 - ANXA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213409 chr11 66761575 66762399 - C1QBPP2 processed_pseudogene 1 1 3 0 0 0 0 0 0 ENSG00000213411 chr13 30539597 30543461 - RBM22P2 processed_pseudogene 0 0 1 0 1 3 0 0 0 ENSG00000213412 chr10 46415853 46416413 + HNRNPA1P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213413 chr7 100218241 100221490 + PVRIG protein_coding 79037 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0038023, GO:0038023, GO:0019902, GO:0005515, signaling receptor activity, signaling receptor activity, phosphatase binding, protein binding, GO:0050860, GO:0050860, negative regulation of T cell receptor signaling pathway, negative regulation of T cell receptor signaling pathway, 10 8 13 5 8 7 4 13 13 ENSG00000213414 chr5 157986146 157987706 - AC008677.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213416 chr17 41123091 41124167 - KRTAP4-12 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 83755 GO:0045095, keratin filament, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000213417 chr17 41065116 41065879 - KRTAP2-4 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 85294 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000213420 chr7 100169606 100177372 - GPC2 protein_coding 221914 GO:0062023, GO:0046658, GO:0045202, GO:0043202, GO:0009986, GO:0005886, GO:0005796, GO:0005783, GO:0005615, GO:0005576, collagen-containing extracellular matrix, anchored component of plasma membrane, synapse, lysosomal lumen, cell surface, plasma membrane, Golgi lumen, endoplasmic reticulum, extracellular space, extracellular region, GO:0005515, protein binding, GO:1905475, GO:0030182, GO:0016477, GO:0010976, GO:0009966, GO:0007224, GO:0006027, GO:0006024, GO:0001523, regulation of protein localization to membrane, neuron differentiation, cell migration, positive regulation of neuron projection development, regulation of signal transduction, smoothened signaling pathway, glycosaminoglycan catabolic process, glycosaminoglycan biosynthetic process, retinoid metabolic process, 18 26 26 26 46 43 31 29 46 ENSG00000213421 chr1 100586649 100587431 - AC099670.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213423 chrX 141261119 141264213 - RBMX2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213424 chr17 40654665 40665181 - KRT222 protein_coding 125113 GO:0005882, intermediate filament, GO:0005515, GO:0005198, protein binding, structural molecule activity, 0 0 0 0 0 0 0 0 0 ENSG00000213430 chr5 21882585 21884310 + HSPD1P1 processed_pseudogene 7 6 16 10 10 0 8 7 1 ENSG00000213431 chr3 100910975 100912175 - AC080014.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213432 chr10 93284004 93284558 - RPL17P34 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000213433 chr5 151765859 151766378 - RPLP1P6 transcribed_processed_pseudogene 1 3 1 2 3 0 1 2 0 ENSG00000213434 chr4 183483490 183484185 + VTI1BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213435 chr6 42727234 42727700 + ATP6V0CP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213438 chr10 123991910 123992669 + YBX2P1 processed_pseudogene 23 27 28 18 46 38 33 25 19 ENSG00000213439 chr3 98064472 98065396 + OR5AC1 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213440 chr21 44046347 44047041 - H2AFZP1 processed_pseudogene 1 1 2 5 0 0 1 1 1 ENSG00000213442 chr12 104265309 104265836 + RPL18AP3 processed_pseudogene 55 41 92 172 79 210 134 61 133 ENSG00000213443 chr12 9695384 9696227 + AC007068.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213445 chr11 65638097 65650930 + SIPA1 protein_coding The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]. 6494 GO:0048471, GO:0032991, GO:0030133, GO:0016020, GO:0005829, GO:0005737, GO:0005634, perinuclear region of cytoplasm, protein-containing complex, transport vesicle, membrane, cytosol, cytoplasm, nucleus, GO:0008022, GO:0005515, GO:0005096, GO:0005096, protein C-terminus binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0090630, GO:0051056, GO:0045786, GO:0043547, GO:0042631, GO:0035556, GO:0030308, GO:0007165, GO:0007162, GO:0007010, activation of GTPase activity, regulation of small GTPase mediated signal transduction, negative regulation of cell cycle, positive regulation of GTPase activity, cellular response to water deprivation, intracellular signal transduction, negative regulation of cell growth, signal transduction, negative regulation of cell adhesion, cytoskeleton organization, 4343 3954 4864 2027 3328 2450 2405 2815 2297 ENSG00000213448 chr4 137448087 137448501 + RPS23P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213449 chr10 91666780 91667782 - GAPDHP28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213450 chr3 77316752 77317598 - VDAC1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213451 chr12 55262539 55263431 + OR6C69P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213452 chr3 74135959 74136892 + AKR1B1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213453 chr2 27392784 27393367 - FTH1P3 processed_pseudogene 2 0 5 5 0 3 1 2 8 ENSG00000213455 chr7 98454119 98454617 - PPIAP82 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213461 chr6 41308166 41308565 - AL672212.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213462 chr7 64990809 65006743 - ERV3-1 protein_coding This gene contains sequence derived from endogenous retrovirus, and is therefore similar to multiple other loci in the genome. Transcripts at this locus encode a conserved protein with a predicted signal peptide and similarity to the Env polyprotein. This protein is overexpressed in colorectal and other cancers. [provided by RefSeq, Jan 2017]. 2086 GO:0003674, molecular_function, GO:0008150, biological_process, 517 1502 1950 776 2708 2717 888 1698 2065 ENSG00000213463 chr14 70366496 70417061 - SYNJ2BP protein_coding 55333 GO:0098839, GO:0043005, GO:0031594, GO:0031307, GO:0030054, GO:0016323, GO:0008328, GO:0005739, postsynaptic density membrane, neuron projection, neuromuscular junction, integral component of mitochondrial outer membrane, cell junction, basolateral plasma membrane, ionotropic glutamate receptor complex, mitochondrion, GO:0008022, GO:0005515, protein C-terminus binding, protein binding, GO:1903671, GO:0098609, GO:0097120, GO:0070373, GO:0048312, GO:0045197, GO:0043113, GO:0030100, GO:0016525, GO:0010596, GO:0009790, GO:0008593, GO:0007268, GO:0007266, GO:0006605, GO:0001937, negative regulation of sprouting angiogenesis, cell-cell adhesion, receptor localization to synapse, negative regulation of ERK1 and ERK2 cascade, intracellular distribution of mitochondria, establishment or maintenance of epithelial cell apical/basal polarity, receptor clustering, regulation of endocytosis, negative regulation of angiogenesis, negative regulation of endothelial cell migration, embryo development, regulation of Notch signaling pathway, chemical synaptic transmission, Rho protein signal transduction, protein targeting, negative regulation of endothelial cell proliferation, 24 21 34 75 27 89 62 13 59 ENSG00000213465 chr11 65014113 65022184 + ARL2 protein_coding This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]. 402 GO:0016328, GO:0015630, GO:0005929, GO:0005925, GO:0005829, GO:0005829, GO:0005813, GO:0005794, GO:0005759, GO:0005758, GO:0005737, GO:0005730, GO:0005654, GO:0005634, lateral plasma membrane, microtubule cytoskeleton, cilium, focal adhesion, cytosol, cytosol, centrosome, Golgi apparatus, mitochondrial matrix, mitochondrial intermembrane space, cytoplasm, nucleolus, nucleoplasm, nucleus, GO:0019003, GO:0005525, GO:0005525, GO:0005515, GO:0005095, GO:0003924, GDP binding, GTP binding, GTP binding, protein binding, GTPase inhibitor activity, GTPase activity, GO:0070830, GO:0051457, GO:0050796, GO:0034260, GO:0031116, GO:0031116, GO:0031113, GO:0010811, GO:0007098, GO:0007021, bicellular tight junction assembly, maintenance of protein location in nucleus, regulation of insulin secretion, negative regulation of GTPase activity, positive regulation of microtubule polymerization, positive regulation of microtubule polymerization, regulation of microtubule polymerization, positive regulation of cell-substrate adhesion, centrosome cycle, tubulin complex assembly, 8 4 5 20 17 27 7 12 14 ENSG00000213467 chr9 121519816 121520424 - HMGB1P37 processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000213468 chrX 131688779 131830643 - FIRRE processed_transcript This gene produces a long RNA containing a repeating sequence. This RNA interacts with heterogeneous nuclear ribonucleoprotein U and coats chromosomes, where it plays an important role in the maintenance of repressive chromatin. This transcript can also act post-transcriptionally to regulate the stability of mRNAs during the innate immune response. [provided by RefSeq, Dec 2017]. 286467 1 0 6 4 1 4 6 0 0 ENSG00000213470 chr12 53632788 53633151 - AC073594.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213471 chr15 90249530 90265482 + TTLL13P protein_coding 440307 GO:0005929, GO:0005874, GO:0005829, cilium, microtubule, cytosol, GO:0070740, GO:0015631, GO:0005524, tubulin-glutamic acid ligase activity, tubulin binding, ATP binding, GO:0018095, GO:0018095, GO:0000226, protein polyglutamylation, protein polyglutamylation, microtubule cytoskeleton organization, 0 0 0 3 1 0 0 0 0 ENSG00000213478 chr1 51157788 51158471 - CFL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213480 chr4 121369433 121370345 - AC093816.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213483 chr7 93844789 93845308 + NDUFAF4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213484 chr10 92136875 92138370 + EIF4A1P8 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000213486 chr2 61710076 61710978 - AC108039.1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000213487 chrX 3367149 3368382 + ASS1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213488 chr5 144522140 144522988 + AC008716.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213489 chrX 125326897 125328021 - AL627231.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213492 chr4 117574512 117576174 - NT5C3AP1 transcribed_processed_pseudogene 3 6 6 10 8 12 6 11 12 ENSG00000213493 chr4 116598161 116599611 + ACTN4P1 processed_pseudogene 0 0 0 0 0 1 4 1 0 ENSG00000213495 chr2 60711484 60711920 + AC012498.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213498 chrX 121863698 121864196 - TPT1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213500 chr6 36673817 36675270 + LAP3P2 processed_pseudogene 1 0 0 3 2 0 0 2 0 ENSG00000213509 chr3 57941818 57942304 + PPIAP16 processed_pseudogene 0 3 2 3 2 1 5 1 4 ENSG00000213512 chr1 89131751 89176040 - GBP7 protein_coding Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]. 388646 GO:0031410, GO:0016020, cytoplasmic vesicle, membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0071346, GO:0050830, GO:0042832, cellular response to interferon-gamma, defense response to Gram-positive bacterium, defense response to protozoan, 0 0 2 0 1 0 0 0 1 ENSG00000213513 chr10 77780337 77781876 - IMPDH1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213514 chr10 77730766 77734769 + AL731556.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000213516 chr1 88979456 88992960 - RBMXL1 protein_coding This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]. 494115 GO:0005681, spliceosomal complex, GO:0003723, RNA binding, GO:0048026, GO:0008380, GO:0006397, positive regulation of mRNA splicing, via spliceosome, RNA splicing, mRNA processing, 434 382 591 276 268 424 355 226 302 ENSG00000213519 chr3 197580344 197580629 - AC132008.1 processed_pseudogene 0 0 0 1 0 0 4 1 2 ENSG00000213522 chr4 107203349 107203924 - RAC1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213523 chr5 140537340 140558252 - SRA1 protein_coding Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012]. 10011 GO:1990904, GO:1990904, GO:1990904, GO:0045171, GO:0031252, GO:0031209, GO:0015630, GO:0005886, GO:0005829, GO:0005737, GO:0005667, GO:0005654, GO:0005634, GO:0005634, ribonucleoprotein complex, ribonucleoprotein complex, ribonucleoprotein complex, intercellular bridge, cell leading edge, SCAR complex, microtubule cytoskeleton, plasma membrane, cytosol, cytoplasm, transcription regulator complex, nucleoplasm, nucleus, nucleus, GO:0030374, GO:0005515, GO:0003713, GO:0003677, GO:0002153, GO:0002153, nuclear receptor coactivator activity, protein binding, transcription coactivator activity, DNA binding, steroid receptor RNA activator RNA binding, steroid receptor RNA activator RNA binding, GO:1903508, GO:0071391, GO:0045662, GO:0042981, GO:0030154, GO:0007346, GO:0006915, GO:0006357, positive regulation of nucleic acid-templated transcription, cellular response to estrogen stimulus, negative regulation of myoblast differentiation, regulation of apoptotic process, cell differentiation, regulation of mitotic cell cycle, apoptotic process, regulation of transcription by RNA polymerase II, 919 886 1128 1459 1586 1340 1556 1346 1063 ENSG00000213525 chr10 74744386 74744707 - FAM32CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213526 chrX 116963049 116963676 + SETP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213527 chr15 79751689 79752049 - AC026826.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000213529 chr9 112362714 112363116 + AL359073.1 processed_pseudogene 1 0 3 0 2 0 0 6 0 ENSG00000213530 chr7 82589848 82590691 - MTHFD2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213533 chr3 52836219 52897596 - STIMATE protein_coding 375346 GO:0140268, GO:0032541, GO:0032541, GO:0016021, GO:0016020, GO:0005789, endoplasmic reticulum-plasma membrane contact site, cortical endoplasmic reticulum, cortical endoplasmic reticulum, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0005515, GO:0005246, GO:0005246, protein binding, calcium channel regulator activity, calcium channel regulator activity, GO:0070886, GO:0035584, GO:0035584, GO:0032237, GO:0032237, positive regulation of calcineurin-NFAT signaling cascade, calcium-mediated signaling using intracellular calcium source, calcium-mediated signaling using intracellular calcium source, activation of store-operated calcium channel activity, activation of store-operated calcium channel activity, 11 16 14 3 7 13 10 8 4 ENSG00000213536 chr6 166240290 166240493 - GNG5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213538 chr11 9094377 9095890 + KRT8P41 processed_pseudogene 1 0 0 3 0 0 2 0 0 ENSG00000213539 chr9 109532830 109534332 - YBX1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213540 chr1 84085741 84086233 + AL359504.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213542 chr7 77115399 77116192 - AC007000.1 processed_pseudogene 14 15 18 16 26 13 11 7 19 ENSG00000213543 chr10 133637408 133637892 - RARRES2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213547 chr16 31546805 31547737 + VN1R64P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213548 chr7 76361768 76362113 + PPIAP81 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000213549 chr7 76113026 76113400 - AC005077.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213551 chr10 73183362 73248862 - DNAJC9 protein_coding 23234 GO:0005886, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0005615, plasma membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, nucleus, extracellular space, GO:0031072, GO:0031072, GO:0005515, heat shock protein binding, heat shock protein binding, protein binding, GO:0032781, positive regulation of ATPase activity, 67 67 70 85 65 112 69 53 69 ENSG00000213553 chr2 38481851 38482804 + RPLP0P6 processed_pseudogene 41 28 67 129 53 124 88 48 77 ENSG00000213556 chr9 108836333 108836597 + AL359692.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213557 chr9 108040213 108040592 + AC068050.1 processed_pseudogene 0 0 0 0 3 0 1 0 0 ENSG00000213558 chr9 107458038 107458306 - HMGN2P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213559 chr1 80451083 80452004 - HNRNPA1P64 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213560 chr1 78091499 78092054 + AC103591.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213561 chr1 78043383 78044148 - AC103591.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213563 chr8 144525733 144529132 - C8orf82 protein_coding 414919 12 8 18 21 20 31 21 8 3 ENSG00000213568 chr5 136428892 136429854 + HNRNPA1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213569 chrX 107131659 107132269 + AL390039.1 processed_pseudogene 3 3 3 3 6 0 0 1 1 ENSG00000213574 chr10 118932674 118933295 - LDHAP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213578 chr15 74826547 74831802 + CPLX3 protein_coding 594855 GO:0098993, GO:0098684, GO:0043195, GO:0031201, GO:0005886, GO:0005829, anchored component of synaptic vesicle membrane, photoreceptor ribbon synapse, terminal bouton, SNARE complex, plasma membrane, cytosol, GO:0019905, GO:0005326, GO:0000149, syntaxin binding, neurotransmitter transmembrane transporter activity, SNARE binding, GO:0050896, GO:0046928, GO:0031630, GO:0030073, GO:0016079, GO:0007601, response to stimulus, regulation of neurotransmitter secretion, regulation of synaptic vesicle fusion to presynaptic active zone membrane, insulin secretion, synaptic vesicle exocytosis, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000213579 chr1 75582099 75582555 + AL096829.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213585 chr5 133971915 134005133 - VDAC1 protein_coding This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Alternate splicing results in multiple transcript variants. Multiple pseudogenes of this gene are found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq, Sep 2010]. 7416 GO:0070062, GO:0046930, GO:0045121, GO:0042645, GO:0031966, GO:0016020, GO:0016020, GO:0005886, GO:0005757, GO:0005741, GO:0005741, GO:0005741, GO:0005739, GO:0005739, GO:0005634, extracellular exosome, pore complex, membrane raft, mitochondrial nucleoid, mitochondrial membrane, membrane, membrane, plasma membrane, mitochondrial permeability transition pore complex, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, nucleus, GO:0097001, GO:0044325, GO:0031210, GO:0019901, GO:0015485, GO:0015288, GO:0008308, GO:0008308, GO:0008308, GO:0008308, GO:0005515, ceramide binding, ion channel binding, phosphatidylcholine binding, protein kinase binding, cholesterol binding, porin activity, voltage-gated anion channel activity, voltage-gated anion channel activity, voltage-gated anion channel activity, voltage-gated anion channel activity, protein binding, GO:2000378, GO:1903146, GO:1901526, GO:0110099, GO:0098656, GO:0043066, GO:0030855, GO:0016236, GO:0016032, GO:0015698, GO:0007612, GO:0007270, GO:0006915, GO:0006915, GO:0006820, GO:0006090, GO:0001662, negative regulation of reactive oxygen species metabolic process, regulation of autophagy of mitochondrion, positive regulation of mitophagy, negative regulation of calcium import into the mitochondrion, anion transmembrane transport, negative regulation of apoptotic process, epithelial cell differentiation, macroautophagy, viral process, inorganic anion transport, learning, neuron-neuron synaptic transmission, apoptotic process, apoptotic process, anion transport, pyruvate metabolic process, behavioral fear response, 60 37 127 102 54 141 123 53 125 ENSG00000213587 chr3 50719482 50719951 - AC126120.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213588 chr6 33453970 33457548 + ZBTB9 protein_coding 221504 GO:0005634, nucleus, GO:0046872, GO:0042802, GO:0005515, GO:0000977, metal ion binding, identical protein binding, protein binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000213590 chr9 136935840 136937161 + AL807752.1 processed_pseudogene 5 3 4 5 3 13 5 6 0 ENSG00000213592 chr11 57718044 57718530 - PPIAP42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213593 chr11 57712600 57740973 + TMX2 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]. 51075 GO:0044233, GO:0043227, GO:0031966, GO:0016021, GO:0005789, GO:0005739, mitochondria-associated endoplasmic reticulum membrane, membrane-bounded organelle, mitochondrial membrane, integral component of membrane, endoplasmic reticulum membrane, mitochondrion, GO:0042802, GO:0015036, GO:0015036, GO:0005515, identical protein binding, disulfide oxidoreductase activity, disulfide oxidoreductase activity, protein binding, GO:0055114, GO:0007420, GO:0007420, oxidation-reduction process, brain development, brain development, 68 69 92 101 87 103 104 49 88 ENSG00000213594 chr2 38285410 38286410 + GAPDHP25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213598 chr14 58794654 58795029 + AL049873.1 processed_pseudogene 0 0 1 3 8 2 0 1 9 ENSG00000213599 chr16 30193892 30204310 + SLX1A-SULT1A3 processed_transcript This locus represents naturally occurring read-through transcription between the neighboring SLX1A (SLX1 structure-specific endonuclease subunit homolog A) and SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1B and SULT1A4 genes located approximately 730 kb upstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2017]. 100526830 0 0 0 0 0 0 0 0 0 ENSG00000213600 chr3 50239618 50239984 + U73169.1 sense_intronic 23 26 23 17 34 16 10 20 16 ENSG00000213601 chr2 189311263 189311967 - KRT18P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213604 chr11 56205125 56205625 - AC022882.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213605 chr2 86885075 86885731 - AC111200.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213606 chr10 67750284 67751225 + AKR1B10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213607 chr11 48579436 48580336 + OR4A45P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213608 chr4 83477524 83478424 + SLC25A14P1 processed_pseudogene 0 1 0 0 1 8 0 0 0 ENSG00000213609 chr10 63902451 63903245 - RPL7AP50 processed_pseudogene 0 0 2 1 0 2 0 0 3 ENSG00000213612 chr9 97121659 97122489 + FAM220CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213613 chr10 87945502 87946024 + RPL11P3 processed_pseudogene 99 89 127 46 93 91 47 71 95 ENSG00000213614 chr15 72340919 72376476 - HEXA protein_coding This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 3073 GO:0070062, GO:0043202, GO:0042582, GO:0016020, extracellular exosome, lysosomal lumen, azurophil granule, membrane, GO:0102148, GO:0046982, GO:0008375, GO:0005515, GO:0004563, N-acetyl-beta-D-galactosaminidase activity, protein heterodimerization activity, acetylglucosaminyltransferase activity, protein binding, beta-N-acetylhexosaminidase activity, GO:0042340, GO:0030214, GO:0030207, GO:0006689, GO:0006687, GO:0006024, GO:0005975, keratan sulfate catabolic process, hyaluronan catabolic process, chondroitin sulfate catabolic process, ganglioside catabolic process, glycosphingolipid metabolic process, glycosaminoglycan biosynthetic process, carbohydrate metabolic process, 54 114 103 712 914 663 552 492 410 ENSG00000213619 chr11 47565336 47584562 + NDUFS3 protein_coding This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]. 4722 GO:0031966, GO:0016604, GO:0005759, GO:0005747, GO:0005747, GO:0005747, GO:0005739, GO:0005739, mitochondrial membrane, nuclear body, mitochondrial matrix, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrion, mitochondrion, GO:0009055, GO:0008137, GO:0005515, GO:0003954, electron transfer activity, NADH dehydrogenase (ubiquinone) activity, protein binding, NADH dehydrogenase activity, GO:2001243, GO:0072593, GO:0032981, GO:0030308, GO:0021762, GO:0006120, GO:0006120, negative regulation of intrinsic apoptotic signaling pathway, reactive oxygen species metabolic process, mitochondrial respiratory chain complex I assembly, negative regulation of cell growth, substantia nigra development, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 41 27 48 52 35 43 30 38 52 ENSG00000213620 chr2 31290762 31291604 + AL121657.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213621 chr13 20961310 20962195 + RPSAP54 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000213625 chr1 65420587 65436007 + LEPROT protein_coding LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]. 54741 GO:0016021, GO:0010008, GO:0005794, GO:0005768, GO:0005768, GO:0000139, integral component of membrane, endosome membrane, Golgi apparatus, endosome, endosome, Golgi membrane, GO:0005515, GO:0005102, GO:0005102, protein binding, signaling receptor binding, signaling receptor binding, GO:2000009, GO:2000009, GO:1903955, GO:0060400, GO:0060400, GO:0046426, GO:0046426, GO:0032511, negative regulation of protein localization to cell surface, negative regulation of protein localization to cell surface, positive regulation of protein targeting to mitochondrion, negative regulation of growth hormone receptor signaling pathway, negative regulation of growth hormone receptor signaling pathway, negative regulation of receptor signaling pathway via JAK-STAT, negative regulation of receptor signaling pathway via JAK-STAT, late endosome to vacuole transport via multivesicular body sorting pathway, 499 635 451 135 368 212 133 297 156 ENSG00000213626 chr2 30231369 30323730 + LBH protein_coding 81606 GO:0032991, GO:0005737, GO:0005634, GO:0005634, protein-containing complex, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, GO:2000737, GO:2000103, GO:1904677, GO:1904674, GO:0060644, GO:0045893, GO:0045893, GO:0045892, GO:0043408, GO:0033147, negative regulation of stem cell differentiation, positive regulation of mammary stem cell proliferation, positive regulation of somatic stem cell division, positive regulation of somatic stem cell population maintenance, mammary gland epithelial cell differentiation, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of MAPK cascade, negative regulation of intracellular estrogen receptor signaling pathway, 146 114 340 333 210 396 252 136 377 ENSG00000213630 chr5 126663337 126663568 - BOLA3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213638 chr19 1905378 1913447 + ADAT3 protein_coding This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]. 113179 GO:0052718, GO:0005654, tRNA-specific adenosine-34 deaminase complex, nucleoplasm, GO:0052717, GO:0046872, GO:0005515, tRNA-specific adenosine-34 deaminase activity, metal ion binding, protein binding, GO:0006400, GO:0002100, tRNA modification, tRNA wobble adenosine to inosine editing, 21 23 6 27 21 13 13 8 11 ENSG00000213639 chr2 28751640 28802940 + PPP1CB protein_coding The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. 5500 GO:0072357, GO:0070062, GO:0042587, GO:0005925, GO:0005886, GO:0005829, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, GO:0000164, PTW/PP1 phosphatase complex, extracellular exosome, glycogen granule, focal adhesion, plasma membrane, cytosol, cytosol, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, protein phosphatase type 1 complex, GO:0106307, GO:0106306, GO:0050115, GO:0046872, GO:0019901, GO:0017018, GO:0016791, GO:0005515, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, myosin-light-chain-phosphatase activity, metal ion binding, protein kinase binding, myosin phosphatase activity, phosphatase activity, protein binding, protein serine/threonine phosphatase activity, GO:0051301, GO:0043153, GO:0042752, GO:0042752, GO:0032922, GO:0032922, GO:0030155, GO:0006470, GO:0005981, GO:0005979, GO:0005977, GO:0000086, cell division, entrainment of circadian clock by photoperiod, regulation of circadian rhythm, regulation of circadian rhythm, circadian regulation of gene expression, circadian regulation of gene expression, regulation of cell adhesion, protein dephosphorylation, regulation of glycogen catabolic process, regulation of glycogen biosynthetic process, glycogen metabolic process, G2/M transition of mitotic cell cycle, 4611 6007 6591 1730 3795 2922 2125 2783 2675 ENSG00000213640 chr7 64862999 64864370 + EEF1DP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213641 chr14 55543401 55544169 + RPL7AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213642 chr7 64569428 64570437 - AC016769.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213643 chr7 64149685 64150432 - VN1R37P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213644 chr7 64181710 64182893 + SAPCD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213645 chr7 63931141 63931968 + SLC25A1P3 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000213648 chr16 29459889 29464976 + SULT1A4 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Read-through transcription exists between this gene and the upstream SLX1B (SLX1 structure-specific endonuclease subunit homolog B) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]. 445329 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0047685, GO:0043199, GO:0008146, GO:0008146, GO:0005515, GO:0004062, GO:0004062, GO:0004062, amine sulfotransferase activity, sulfate binding, sulfotransferase activity, sulfotransferase activity, protein binding, aryl sulfotransferase activity, aryl sulfotransferase activity, aryl sulfotransferase activity, GO:1903351, GO:1901215, GO:0098989, GO:0097720, GO:0070371, GO:0051923, GO:0051923, GO:0050427, GO:0050427, GO:0042420, GO:0036498, GO:0009812, GO:0008202, GO:0007212, GO:0006805, GO:0006584, GO:0006068, cellular response to dopamine, negative regulation of neuron death, NMDA selective glutamate receptor signaling pathway, calcineurin-mediated signaling, ERK1 and ERK2 cascade, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, dopamine catabolic process, IRE1-mediated unfolded protein response, flavonoid metabolic process, steroid metabolic process, dopamine receptor signaling pathway, xenobiotic metabolic process, catecholamine metabolic process, ethanol catabolic process, 0 1 0 1 0 0 0 1 0 ENSG00000213650 chr7 56567906 56568858 - AC092447.2 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000213652 chrX 112689915 112690520 + HMGB3P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213653 chrX 82506434 82506812 - RPL22P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213654 chr6 32190766 32195523 - GPSM3 protein_coding 63940 GO:0005886, GO:0005737, GO:0005575, plasma membrane, cytoplasm, cellular_component, GO:0030695, GO:0005515, GO:0003674, GTPase regulator activity, protein binding, molecular_function, GO:1900017, GO:0050790, GO:0050729, GO:0008150, GO:0002690, positive regulation of cytokine production involved in inflammatory response, regulation of catalytic activity, positive regulation of inflammatory response, biological_process, positive regulation of leukocyte chemotaxis, 110 118 7 10 5 5 7 79 9 ENSG00000213655 chr5 123236079 123236370 + AC010493.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213657 chr10 52389112 52389488 - RPL31P44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213658 chr16 28984826 28990783 + LAT protein_coding The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 27040 GO:0045121, GO:0016021, GO:0008180, GO:0005911, GO:0005886, GO:0005886, GO:0005794, GO:0001772, GO:0001772, membrane raft, integral component of membrane, COP9 signalosome, cell-cell junction, plasma membrane, plasma membrane, Golgi apparatus, immunological synapse, immunological synapse, GO:0030159, GO:0019901, GO:0019901, GO:0005515, signaling receptor complex adaptor activity, protein kinase binding, protein kinase binding, protein binding, GO:0050863, GO:0050863, GO:0050852, GO:0045860, GO:0045860, GO:0043303, GO:0042110, GO:0038095, GO:0035556, GO:0035556, GO:0019722, GO:0010467, GO:0007265, GO:0007229, GO:0006955, GO:0006955, GO:0006954, GO:0002260, GO:0002250, GO:0000165, regulation of T cell activation, regulation of T cell activation, T cell receptor signaling pathway, positive regulation of protein kinase activity, positive regulation of protein kinase activity, mast cell degranulation, T cell activation, Fc-epsilon receptor signaling pathway, intracellular signal transduction, intracellular signal transduction, calcium-mediated signaling, gene expression, Ras protein signal transduction, integrin-mediated signaling pathway, immune response, immune response, inflammatory response, lymphocyte homeostasis, adaptive immune response, MAPK cascade, 12 7 9 23 19 18 30 5 19 ENSG00000213659 chr10 51319826 51320660 + RSU1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213661 chr5 121616247 121616807 + AC106806.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213663 chr5 119547131 119547606 - AC010409.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213664 chr17 27280482 27280912 + RPS16P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213667 chr10 50726947 50727969 - PGGT1BP1 processed_pseudogene 0 0 0 0 0 0 0 1 2 ENSG00000213669 chr9 92676943 92677407 - AL137074.1 processed_pseudogene 0 0 2 0 0 0 0 0 3 ENSG00000213671 chr17 20775642 20776905 + OLA1P2 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000213672 chr3 48673844 48686364 - NCKIPSD protein_coding The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2019]. 51517 GO:0008180, GO:0005882, GO:0005829, COP9 signalosome, intermediate filament, cytosol, GO:0017124, GO:0008092, GO:0005515, SH3 domain binding, cytoskeletal protein binding, protein binding, GO:0038096, GO:0010976, GO:0007010, Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of neuron projection development, cytoskeleton organization, 17 19 19 7 19 53 39 16 30 ENSG00000213673 chr7 54419444 54420328 + SLC25A5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213676 chr6 32115264 32128253 - ATF6B protein_coding The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 1388 GO:0090575, GO:0032993, GO:0030176, GO:0030176, GO:0005794, GO:0005789, GO:0005634, GO:0005634, GO:0000785, RNA polymerase II transcription regulator complex, protein-DNA complex, integral component of endoplasmic reticulum membrane, integral component of endoplasmic reticulum membrane, Golgi apparatus, endoplasmic reticulum membrane, nucleus, nucleus, chromatin, GO:1990837, GO:0035497, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000976, sequence-specific double-stranded DNA binding, cAMP response element binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:1990440, GO:1903892, GO:0045944, GO:0036500, GO:0030968, GO:0007165, GO:0006357, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress, negative regulation of ATF6-mediated unfolded protein response, positive regulation of transcription by RNA polymerase II, ATF6-mediated unfolded protein response, endoplasmic reticulum unfolded protein response, signal transduction, regulation of transcription by RNA polymerase II, 0 1 3 0 0 0 0 1 3 ENSG00000213683 chr22 50754675 50755434 - AC002056.1 processed_pseudogene 10 4 3 7 6 2 4 7 5 ENSG00000213684 chrX 76334841 76335845 - LDHBP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213689 chr3 48465811 48467645 + TREX1 protein_coding This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. 11277 GO:0043596, GO:0032993, GO:0008250, GO:0005829, GO:0005789, GO:0005737, GO:0005635, nuclear replication fork, protein-DNA complex, oligosaccharyltransferase complex, cytosol, endoplasmic reticulum membrane, cytoplasm, nuclear envelope, GO:0050699, GO:0046872, GO:0042803, GO:0032558, GO:0032407, GO:0032405, GO:0008853, GO:0008408, GO:0008301, GO:0008296, GO:0008296, GO:0003697, GO:0003690, GO:0000287, WW domain binding, metal ion binding, protein homodimerization activity, adenyl deoxyribonucleotide binding, MutSalpha complex binding, MutLalpha complex binding, exodeoxyribonuclease III activity, 3'-5' exonuclease activity, DNA binding, bending, 3'-5'-exodeoxyribonuclease activity, 3'-5'-exodeoxyribonuclease activity, single-stranded DNA binding, double-stranded DNA binding, magnesium ion binding, GO:1905671, GO:1904161, GO:0097281, GO:0072711, GO:0072422, GO:0072421, GO:0072394, GO:0071480, GO:0061635, GO:0060339, GO:0060337, GO:0051607, GO:0050863, GO:0050821, GO:0050790, GO:0050727, GO:0046890, GO:0045184, GO:0043457, GO:0043277, GO:0035781, GO:0035458, GO:0034614, GO:0032680, GO:0032607, GO:0032508, GO:0032479, GO:0032197, GO:0019217, GO:0008340, GO:0006310, GO:0006304, GO:0006298, GO:0006281, GO:0006260, GO:0006259, GO:0006110, GO:0006091, GO:0003228, GO:0003015, GO:0003007, GO:0002637, GO:0002457, GO:0002437, GO:0002383, GO:0002381, GO:0002320, GO:0002281, GO:0002253, GO:0001822, GO:0001568, GO:0000738, regulation of lysosome organization, DNA synthesis involved in UV-damage excision repair, immune complex formation, cellular response to hydroxyurea, signal transduction involved in DNA damage checkpoint, detection of DNA damage stimulus involved in DNA damage checkpoint, detection of stimulus involved in cell cycle checkpoint, cellular response to gamma radiation, regulation of protein complex stability, negative regulation of type I interferon-mediated signaling pathway, type I interferon signaling pathway, defense response to virus, regulation of T cell activation, protein stabilization, regulation of catalytic activity, regulation of inflammatory response, regulation of lipid biosynthetic process, establishment of protein localization, regulation of cellular respiration, apoptotic cell clearance, CD86 biosynthetic process, cellular response to interferon-beta, cellular response to reactive oxygen species, regulation of tumor necrosis factor production, interferon-alpha production, DNA duplex unwinding, regulation of type I interferon production, transposition, RNA-mediated, regulation of fatty acid metabolic process, determination of adult lifespan, DNA recombination, DNA modification, mismatch repair, DNA repair, DNA replication, DNA metabolic process, regulation of glycolytic process, generation of precursor metabolites and energy, atrial cardiac muscle tissue development, heart process, heart morphogenesis, regulation of immunoglobulin production, T cell antigen processing and presentation, inflammatory response to antigenic stimulus, immune response in brain or nervous system, immunoglobulin production involved in immunoglobulin-mediated immune response, lymphoid progenitor cell differentiation, macrophage activation involved in immune response, activation of immune response, kidney development, blood vessel development, DNA catabolic process, exonucleolytic, 0 0 0 0 0 0 0 0 0 ENSG00000213690 chr1 242376923 242377432 - AL360271.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213693 chr11 43897456 43899636 + SEC14L1P1 processed_pseudogene 5 6 8 11 4 15 4 3 1 ENSG00000213694 chr9 88990863 89005010 + S1PR3 protein_coding This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008]. 1903 GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0038036, GO:0008289, GO:0005515, GO:0005178, GO:0004930, sphingosine-1-phosphate receptor activity, lipid binding, protein binding, integrin binding, G protein-coupled receptor activity, GO:1903141, GO:0019222, GO:0009653, GO:0008284, GO:0007204, GO:0007189, GO:0007186, GO:0006954, GO:0003376, negative regulation of establishment of endothelial barrier, regulation of metabolic process, anatomical structure morphogenesis, positive regulation of cell population proliferation, positive regulation of cytosolic calcium ion concentration, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, inflammatory response, sphingosine-1-phosphate receptor signaling pathway, 3 27 8 1 19 10 7 14 8 ENSG00000213695 chrX 74409518 74410100 + RPS7P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213697 chr11 43522036 43523264 + CTBP2P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213698 chrX 72727977 72728821 - AC240504.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213699 chr2 26764284 26781231 + SLC35F6 protein_coding 54978 GO:0070062, GO:0043231, GO:0043231, GO:0016021, GO:0016020, GO:0005829, GO:0005765, GO:0005765, GO:0005739, GO:0005654, extracellular exosome, intracellular membrane-bounded organelle, intracellular membrane-bounded organelle, integral component of membrane, membrane, cytosol, lysosomal membrane, lysosomal membrane, mitochondrion, nucleoplasm, GO:0022857, GO:0005515, transmembrane transporter activity, protein binding, GO:1901029, GO:0055085, GO:0008284, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, transmembrane transport, positive regulation of cell population proliferation, 80 113 117 75 89 75 72 58 76 ENSG00000213700 chr10 73005833 73006595 - RPL17P50 processed_pseudogene 0 1 0 3 0 0 0 0 4 ENSG00000213701 chr5 97056402 97057358 - SETP22 processed_pseudogene 0 0 0 0 0 0 0 3 0 ENSG00000213703 chr1 62641122 62641667 - AL138847.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213704 chrX 98389512 98390919 + EEF1A1P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213706 chrX 71352418 71352988 + AL590762.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213707 chr22 26560526 26561088 + HMGB1P10 processed_pseudogene 2 2 0 1 1 0 0 1 0 ENSG00000213708 chr8 106215763 106217218 + SLC16A14P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213711 chr9 85898903 85899716 + PHBP7 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000213713 chr11 33075566 33076460 - PIGCP1 processed_pseudogene 9 19 23 15 10 15 12 17 28 ENSG00000213714 chr20 56533246 56536520 + FAM209B protein_coding 388799 GO:0016021, GO:0005634, integral component of membrane, nucleus, 55 29 29 46 63 71 41 46 27 ENSG00000213716 chr5 95973041 95973446 - FABP5P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213717 chr7 43274159 43274582 + AC004692.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213719 chr6 31730581 31739763 - CLIC1 protein_coding Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008]. 1192 GO:0072562, GO:0070062, GO:0070062, GO:0048471, GO:0034707, GO:0031982, GO:0031965, GO:0016020, GO:0005903, GO:0005886, GO:0005737, GO:0005737, GO:0005635, GO:0005634, GO:0005634, GO:0005634, GO:0005615, blood microparticle, extracellular exosome, extracellular exosome, perinuclear region of cytoplasm, chloride channel complex, vesicle, nuclear membrane, membrane, brush border, plasma membrane, cytoplasm, cytoplasm, nuclear envelope, nucleus, nucleus, nucleus, extracellular space, GO:0045296, GO:0005515, GO:0005254, GO:0005254, GO:0005244, cadherin binding, protein binding, chloride channel activity, chloride channel activity, voltage-gated ion channel activity, GO:1902476, GO:0070527, GO:0051726, GO:0034765, GO:0007165, GO:0006821, chloride transmembrane transport, platelet aggregation, regulation of cell cycle, regulation of ion transmembrane transport, signal transduction, chloride transport, 0 0 0 0 0 0 5 1 1 ENSG00000213721 chr7 42113365 42113620 + HMGN2P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213722 chr6 31727038 31730617 - DDAH2 protein_coding This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]. 23564 GO:0070062, GO:0034451, GO:0005829, GO:0005829, GO:0005739, extracellular exosome, centriolar satellite, cytosol, cytosol, mitochondrion, GO:0016597, GO:0016403, GO:0016403, GO:0005515, GO:0003824, amino acid binding, dimethylargininase activity, dimethylargininase activity, protein binding, catalytic activity, GO:0050999, GO:0045429, GO:0045429, GO:0043066, GO:0007263, GO:0006809, GO:0006527, GO:0006525, GO:0000052, GO:0000052, regulation of nitric-oxide synthase activity, positive regulation of nitric oxide biosynthetic process, positive regulation of nitric oxide biosynthetic process, negative regulation of apoptotic process, nitric oxide mediated signal transduction, nitric oxide biosynthetic process, arginine catabolic process, arginine metabolic process, citrulline metabolic process, citrulline metabolic process, 2 2 3 2 0 3 3 4 4 ENSG00000213724 chr10 34965069 34966259 + PRDX2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213726 chr19 690353 691172 + RPS2P52 processed_pseudogene 0 0 0 0 0 0 0 3 0 ENSG00000213727 chr22 15572089 15573265 - AP000533.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213729 chr2 20155618 20156057 - AC098828.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213730 chr5 93267429 93268425 + POLD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213731 chr10 74423435 74424014 - RAB5CP1 processed_pseudogene 0 1 1 0 4 3 3 3 0 ENSG00000213735 chr1 52253621 52254176 + ANAPC10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213736 chr12 24967127 24967504 - AC026310.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213739 chr2 205949091 205950145 + PPIAP68 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213740 chrX 68783472 68785066 + SERBP1P1 processed_pseudogene 15 4 23 20 10 3 16 12 11 ENSG00000213741 chr14 49570984 49599164 - RPS29 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]. 6235 GO:0098556, GO:0070062, GO:0042788, GO:0022627, GO:0022627, GO:0022627, GO:0015935, GO:0005925, GO:0005829, GO:0005654, cytoplasmic side of rough endoplasmic reticulum membrane, extracellular exosome, polysomal ribosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, small ribosomal subunit, focal adhesion, cytosol, nucleoplasm, GO:0008270, GO:0008270, GO:0003735, GO:0003735, zinc ion binding, zinc ion binding, structural constituent of ribosome, structural constituent of ribosome, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 353 211 405 761 328 829 422 388 638 ENSG00000213742 chr20 25624045 25678074 + ZNF337-AS1 antisense 102724826 26 25 40 62 20 80 28 13 81 ENSG00000213744 chr7 37375522 37376023 + RPS10P14 processed_pseudogene 0 1 1 0 0 1 4 1 5 ENSG00000213747 chrX 70857163 70857502 + AL627390.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213750 chr8 97624203 97625079 - AP002982.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213752 chr22 45275599 45276085 + AL008718.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213753 chr19 58573503 58599801 + CENPBD1P1 transcribed_processed_pseudogene 65996 512 486 569 129 267 259 170 266 207 ENSG00000213754 chrX 64305047 64306733 - AL356317.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000213755 chr5 79510434 79510919 + AC093270.1 processed_pseudogene 0 1 0 34 50 40 12 22 32 ENSG00000213757 chr5 79284132 79284918 - AC020898.1 processed_pseudogene 1 0 1 10 6 21 6 7 6 ENSG00000213759 chr4 69199951 69214731 - UGT2B11 protein_coding 10720 GO:0043231, GO:0016021, GO:0005789, intracellular membrane-bounded organelle, integral component of membrane, endoplasmic reticulum membrane, GO:0015020, GO:0008194, GO:0005515, glucuronosyltransferase activity, UDP-glycosyltransferase activity, protein binding, GO:0052697, GO:0008210, GO:0006805, xenobiotic glucuronidation, estrogen metabolic process, xenobiotic metabolic process, 36 45 101 0 5 0 2 3 0 ENSG00000213760 chr6 31544462 31548427 - ATP6V1G2 protein_coding This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]. 534 GO:0042470, GO:0030285, GO:0016471, GO:0005829, melanosome, integral component of synaptic vesicle membrane, vacuolar proton-transporting V-type ATPase complex, cytosol, GO:0016887, GO:0005515, ATPase activity, protein binding, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0016241, GO:0008286, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000213761 chr9 95413267 95413449 - MT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213762 chr19 57614233 57624723 + ZNF134 protein_coding 7693 GO:0005654, nucleoplasm, GO:0046872, GO:0005515, GO:0001227, GO:0000978, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 72 79 97 39 71 8 50 63 75 ENSG00000213763 chr5 77784881 77786003 + ACTBP2 processed_pseudogene 7 8 1 3 2 0 0 2 1 ENSG00000213770 chr10 27349717 27350290 - FAM210CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213771 chr10 8513687 8515106 - KRT8P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213772 chr2 9271292 9271628 - EIF1P7 processed_pseudogene 2 0 4 1 1 0 0 2 0 ENSG00000213774 chr2 7324748 7325062 - AC010904.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213777 chr19 53503392 53512687 + AC011487.1 transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000213778 chr10 30517616 30518861 - HNRNPA1P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213779 chr11 17193489 17194308 + AC107956.2 processed_pseudogene 0 0 1 0 2 0 0 5 0 ENSG00000213780 chr6 30908184 30914106 + GTF2H4 protein_coding 2968 GO:0016607, GO:0005675, GO:0005675, GO:0005669, GO:0005654, GO:0005634, GO:0000439, GO:0000438, nuclear speck, transcription factor TFIIH holo complex, transcription factor TFIIH holo complex, transcription factor TFIID complex, nucleoplasm, nucleus, transcription factor TFIIH core complex, core TFIIH complex portion of holo TFIIH complex, GO:0016251, GO:0005515, GO:0003690, GO:0001671, RNA polymerase II general transcription initiation factor activity, protein binding, double-stranded DNA binding, ATPase activator activity, GO:0070911, GO:0070816, GO:0033683, GO:0032781, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006296, GO:0006295, GO:0006294, GO:0006293, GO:0006289, GO:0006283, GO:0006281, GO:0000717, global genome nucleotide-excision repair, phosphorylation of RNA polymerase II C-terminal domain, nucleotide-excision repair, DNA incision, positive regulation of ATPase activity, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, DNA repair, nucleotide-excision repair, DNA duplex unwinding, 0 0 0 0 0 0 0 0 0 ENSG00000213781 chr7 27461766 27462969 + PSMC1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213782 chr12 12813316 12829981 + DDX47 protein_coding This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 51202 GO:0016020, GO:0005730, GO:0005654, GO:0005634, membrane, nucleolus, nucleoplasm, nucleus, GO:0005524, GO:0005515, GO:0003724, GO:0003723, ATP binding, protein binding, RNA helicase activity, RNA binding, GO:0008625, GO:0008380, GO:0006397, GO:0006364, GO:0006364, GO:0006364, extrinsic apoptotic signaling pathway via death domain receptors, RNA splicing, mRNA processing, rRNA processing, rRNA processing, rRNA processing, 3 4 5 3 4 9 8 1 7 ENSG00000213783 chr7 27269357 27269678 - RPL35P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213785 chr11 16484084 16484671 - AKR1B1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213786 chr7 27048169 27048628 + NHP2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213787 chr7 26922110 26922912 + RPL7AP38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213790 chr22 42107765 42108953 - OLA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213791 chr8 80300869 80301481 + AC104212.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213793 chr19 52904417 52923481 - ZNF888 protein_coding 388559 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 56 58 48 57 66 42 45 42 22 ENSG00000213798 chr7 25212170 25212965 - AC004129.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213799 chr19 53333746 53356906 + ZNF845 protein_coding 91664 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 74 82 93 81 83 24 85 49 68 ENSG00000213801 chr19 52927135 52942601 - ZNF321P transcribed_processed_pseudogene 399669 18 10 8 17 17 32 27 17 7 ENSG00000213809 chr12 10372353 10391874 - KLRK1 protein_coding Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]. 22914 GO:0016021, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005886, integral component of membrane, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0042288, GO:0038023, GO:0038023, GO:0032394, GO:0030246, GO:0005515, MHC class I protein binding, signaling receptor activity, signaling receptor activity, MHC class Ib receptor activity, carbohydrate binding, protein binding, GO:2000502, GO:0071222, GO:0050830, GO:0050776, GO:0045954, GO:0045954, GO:0045429, GO:0042267, GO:0034260, GO:0032729, GO:0031295, GO:0030154, GO:0030101, GO:0007165, GO:0002250, GO:0002223, negative regulation of natural killer cell chemotaxis, cellular response to lipopolysaccharide, defense response to Gram-positive bacterium, regulation of immune response, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of natural killer cell mediated cytotoxicity, positive regulation of nitric oxide biosynthetic process, natural killer cell mediated cytotoxicity, negative regulation of GTPase activity, positive regulation of interferon-gamma production, T cell costimulation, cell differentiation, natural killer cell activation, signal transduction, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, 6 6 7 10 5 4 6 5 9 ENSG00000213816 chr9 42972386 42973289 - CNN2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213820 chr20 46099518 46100176 + RPL13P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213822 chr19 51478622 51490952 + CEACAM18 protein_coding 729767 0 0 0 0 0 0 0 0 0 ENSG00000213830 chr5 69313371 69313872 - CFL1P5 processed_pseudogene 0 0 3 1 0 5 1 0 9 ENSG00000213839 chr9 37885683 37886390 + TMX2P1 processed_pseudogene 71 80 96 30 29 36 39 35 81 ENSG00000213842 chr3 32752910 32753901 + SUGT1P2 processed_pseudogene 2 4 4 0 5 6 11 6 7 ENSG00000213846 chr3 27632976 27635427 + AC098614.1 transcribed_processed_pseudogene 13 11 7 4 6 5 6 13 7 ENSG00000213849 chr3 32507955 32508325 + AC104306.1 processed_pseudogene 0 2 1 0 2 1 0 2 0 ENSG00000213851 chr4 43410041 43410937 - AC098590.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213853 chr16 10528422 10580698 - EMP2 protein_coding This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]. 2013 GO:0045177, GO:0045121, GO:0031410, GO:0016324, GO:0016021, GO:0009986, GO:0005901, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005737, GO:0005737, GO:0005634, GO:0000139, apical part of cell, membrane raft, cytoplasmic vesicle, apical plasma membrane, integral component of membrane, cell surface, caveola, plasma membrane, plasma membrane, cytosol, Golgi apparatus, cytoplasm, cytoplasm, nucleus, Golgi membrane, GO:0019901, GO:0019901, GO:0019900, GO:0005515, GO:0005178, protein kinase binding, protein kinase binding, kinase binding, protein binding, integrin binding, GO:2001212, GO:2001046, GO:2001046, GO:0072659, GO:0070836, GO:0070252, GO:0045765, GO:0045765, GO:0045022, GO:0043549, GO:0043534, GO:0034394, GO:0032147, GO:0032060, GO:0016477, GO:0010594, GO:0008284, GO:0008283, GO:0008219, GO:0007566, GO:0007160, GO:0007155, GO:0007155, GO:0007015, GO:0003093, GO:0001954, GO:0001952, GO:0001913, GO:0001765, regulation of vasculogenesis, positive regulation of integrin-mediated signaling pathway, positive regulation of integrin-mediated signaling pathway, protein localization to plasma membrane, caveola assembly, actin-mediated cell contraction, regulation of angiogenesis, regulation of angiogenesis, early endosome to late endosome transport, regulation of kinase activity, blood vessel endothelial cell migration, protein localization to cell surface, activation of protein kinase activity, bleb assembly, cell migration, regulation of endothelial cell migration, positive regulation of cell population proliferation, cell population proliferation, cell death, embryo implantation, cell-matrix adhesion, cell adhesion, cell adhesion, actin filament organization, regulation of glomerular filtration, positive regulation of cell-matrix adhesion, regulation of cell-matrix adhesion, T cell mediated cytotoxicity, membrane raft assembly, 0 0 0 0 0 0 0 0 0 ENSG00000213854 chr3 31181751 31182650 - CNN2P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213856 chrX 49632500 49633349 - VDAC1P2 processed_pseudogene 1 4 2 1 1 2 3 0 0 ENSG00000213857 chr22 41074180 41075239 - AL080243.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213859 chr17 7351889 7354944 + KCTD11 protein_coding 147040 GO:0005737, cytoplasm, GO:0042802, GO:0016740, identical protein binding, transferase activity, GO:0051260, GO:0045879, GO:0045666, GO:0040008, GO:0016567, GO:0007406, GO:0007049, protein homooligomerization, negative regulation of smoothened signaling pathway, positive regulation of neuron differentiation, regulation of growth, protein ubiquitination, negative regulation of neuroblast proliferation, cell cycle, 12 7 15 26 18 11 28 13 24 ENSG00000213860 chr7 20002765 20003247 + RPL21P75 processed_pseudogene 17 6 23 33 14 32 25 13 29 ENSG00000213862 chr15 47730144 47730935 - AC044787.1 processed_pseudogene 1 0 1 5 1 5 4 0 3 ENSG00000213863 chr6 170725197 170728488 + AL731661.1 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000213864 chr5 68159218 68159893 - EEF1B2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213865 chr8 66667615 66685564 + C8orf44 protein_coding 30 36 37 32 36 44 19 24 23 ENSG00000213866 chr9 35971344 35972318 - YBX1P10 processed_pseudogene 23 11 22 23 5 14 4 12 13 ENSG00000213867 chr14 30821419 30821843 + AL049830.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213871 chr3 25754925 25755670 + TAF9BP1 processed_pseudogene 3 2 3 0 3 3 4 0 0 ENSG00000213872 chr3 25749488 25749896 + AC092798.1 processed_pseudogene 10 4 9 0 7 2 5 4 7 ENSG00000213873 chr8 65377592 65378111 + PPIAP86 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213875 chr7 13871856 13872513 + AC005019.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213876 chr17 7140930 7141592 + RPL7AP64 processed_pseudogene 2 1 2 0 0 0 0 0 0 ENSG00000213877 chr3 25324174 25324659 + CFL1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213880 chr6 29803195 29803991 - RPL7AP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213881 chr8 61202350 61203220 + NPM1P6 processed_pseudogene 0 0 1 0 0 1 1 2 1 ENSG00000213882 chr20 22885670 22886068 - CYB5AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213885 chr21 25361821 25362431 + RPL13AP7 processed_pseudogene 0 0 2 1 1 4 1 1 2 ENSG00000213886 chr6 29555515 29559925 - UBD protein_coding This gene encodes a protein which contains two ubiquitin-like domains and appears to have similar function to ubiquitin. Through covalent attachment, the encoded protein targets other proteins for 26S proteasome degradation. This protein has been implicated to function in many cellular processes, including caspase-dependent apoptosis, formation of aggresomes, mitotic regulation, and dendritic cell maturation. Upregulation of this gene may promote inflammation in chronic kidney disease and has been observed in many cancer types. [provided by RefSeq, Aug 2017]. 10537 GO:0016235, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0001650, aggresome, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, fibrillar center, GO:0070628, GO:0070628, GO:0005515, proteasome binding, proteasome binding, protein binding, GO:1901990, GO:0070842, GO:0043687, GO:0043123, GO:0043123, GO:0043065, GO:0043065, GO:0043011, GO:0034612, GO:0034612, GO:0034341, GO:0034341, GO:0032446, GO:0016567, GO:0016567, GO:0006511, GO:0006511, GO:0006508, regulation of mitotic cell cycle phase transition, aggresome assembly, post-translational protein modification, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, positive regulation of apoptotic process, myeloid dendritic cell differentiation, response to tumor necrosis factor, response to tumor necrosis factor, response to interferon-gamma, response to interferon-gamma, protein modification by small protein conjugation, protein ubiquitination, protein ubiquitination, ubiquitin-dependent protein catabolic process, ubiquitin-dependent protein catabolic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000213888 chr22 31346777 31348719 + LINC01521 lincRNA 3 3 3 7 2 7 8 1 7 ENSG00000213889 chr19 45488777 45502510 + PPM1N protein_coding 147699 GO:0005829, GO:0005634, cytosol, nucleus, GO:0106307, GO:0106306, GO:0030145, GO:0000287, protein threonine phosphatase activity, protein serine phosphatase activity, manganese ion binding, magnesium ion binding, GO:0090263, GO:0043124, GO:0006470, positive regulation of canonical Wnt signaling pathway, negative regulation of I-kappaB kinase/NF-kappaB signaling, protein dephosphorylation, 29 23 49 19 21 20 27 21 20 ENSG00000213891 chr5 61390668 61391871 - RPL3P6 processed_pseudogene 11 3 6 10 5 25 12 5 27 ENSG00000213892 chr19 44699151 44710714 + CEACAM16 protein_coding The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]. 388551 GO:0032426, GO:0032426, GO:0005615, GO:0005615, stereocilium tip, stereocilium tip, extracellular space, extracellular space, GO:0042802, identical protein binding, GO:0007605, GO:0007605, GO:0007605, sensory perception of sound, sensory perception of sound, sensory perception of sound, 0 0 0 0 0 0 0 0 3 ENSG00000213896 chr5 60429903 60430276 - AC109486.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000213900 chr6 29489271 29489676 - RPS17P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213901 chr2 219161465 219170095 - SLC23A3 protein_coding 151295 GO:0016021, integral component of membrane, GO:0022857, GO:0005215, transmembrane transporter activity, transporter activity, GO:0055085, transmembrane transport, 3 2 1 9 8 0 8 4 0 ENSG00000213903 chr14 24311450 24318036 + LTB4R protein_coding 1241 GO:0045121, GO:0005887, GO:0005886, membrane raft, integral component of plasma membrane, plasma membrane, GO:0008528, GO:0004974, GO:0001632, GO:0000166, G protein-coupled peptide receptor activity, leukotriene receptor activity, leukotriene B4 receptor activity, nucleotide binding, GO:0061737, GO:0007218, GO:0007200, GO:0007186, GO:0006955, GO:0006954, GO:0006936, leukotriene signaling pathway, neuropeptide signaling pathway, phospholipase C-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, immune response, inflammatory response, muscle contraction, 1342 1126 1428 225 494 408 262 495 369 ENSG00000213904 chr19 42397128 42652355 + LIPE-AS1 antisense 100996307 140 127 172 62 79 106 70 68 43 ENSG00000213906 chr14 24305734 24312053 + LTB4R2 protein_coding 56413 GO:0016020, GO:0005887, GO:0005886, GO:0005886, GO:0005654, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, GO:0008528, GO:0004974, GO:0001632, G protein-coupled peptide receptor activity, leukotriene receptor activity, leukotriene B4 receptor activity, GO:0061737, GO:0051546, GO:0007218, GO:0007194, GO:0007186, GO:0006954, GO:0006935, leukotriene signaling pathway, keratinocyte migration, neuropeptide signaling pathway, negative regulation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, inflammatory response, chemotaxis, 119 152 136 64 83 61 51 85 58 ENSG00000213908 chr19 41024268 41027720 - CYP2A7P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213911 chr6 29229227 29230157 - OR2G1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213916 chr6 28861416 28862047 + RPL13P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213917 chr2 214280638 214281452 - RPL5P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213918 chr16 3611728 3680143 + DNASE1 protein_coding This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. 1773 GO:0070062, GO:0005635, GO:0005634, GO:0005576, extracellular exosome, nuclear envelope, nucleus, extracellular region, GO:0005515, GO:0004530, GO:0003779, GO:0003677, protein binding, deoxyribonuclease I activity, actin binding, DNA binding, GO:0070948, GO:0006915, GO:0006308, GO:0002673, GO:0002283, GO:0000737, GO:0000737, regulation of neutrophil mediated cytotoxicity, apoptotic process, DNA catabolic process, regulation of acute inflammatory response, neutrophil activation involved in immune response, DNA catabolic process, endonucleolytic, DNA catabolic process, endonucleolytic, 278 308 341 338 370 407 389 235 302 ENSG00000213920 chr14 24213937 24216070 - MDP1 protein_coding 145553 GO:0046872, GO:0004725, GO:0003993, metal ion binding, protein tyrosine phosphatase activity, acid phosphatase activity, GO:0035335, GO:0030389, peptidyl-tyrosine dephosphorylation, fructosamine metabolic process, 0 0 0 0 2 0 0 0 6 ENSG00000213921 chr19 39776595 39786167 + LEUTX protein_coding 342900 GO:0005634, GO:0000785, nucleus, chromatin, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000213923 chr22 38290691 38318084 - CSNK1E protein_coding The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]. 1454 GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0004672, GO:0003723, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, RNA binding, GO:2000052, GO:1905426, GO:1903827, GO:0097711, GO:0090263, GO:0060070, GO:0060070, GO:0060070, GO:0042752, GO:0032922, GO:0032436, GO:0032436, GO:0032091, GO:0018105, GO:0018105, GO:0016055, GO:0010389, GO:0007165, GO:0006897, GO:0006468, GO:0006468, GO:0006281, GO:0000086, positive regulation of non-canonical Wnt signaling pathway, positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation, regulation of cellular protein localization, ciliary basal body-plasma membrane docking, positive regulation of canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, canonical Wnt signaling pathway, regulation of circadian rhythm, circadian regulation of gene expression, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein binding, peptidyl-serine phosphorylation, peptidyl-serine phosphorylation, Wnt signaling pathway, regulation of G2/M transition of mitotic cell cycle, signal transduction, endocytosis, protein phosphorylation, protein phosphorylation, DNA repair, G2/M transition of mitotic cell cycle, 60 79 128 116 119 197 117 77 144 ENSG00000213924 chrX 143677153 143678362 - HNRNPH1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213925 chr2 203772631 203773502 - NPM1P33 processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000213926 chr19 39254916 39255269 - MSRB1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213927 chr9 34661880 34664048 - CCL27 protein_coding This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Sep 2014]. 10850 GO:0005615, GO:0005576, GO:0005576, extracellular space, extracellular region, extracellular region, GO:0031728, GO:0008009, GO:0005515, CCR3 chemokine receptor binding, chemokine activity, protein binding, GO:2000251, GO:0071677, GO:0060326, GO:0010820, GO:0007267, GO:0007186, GO:0006955, GO:0006935, positive regulation of actin cytoskeleton reorganization, positive regulation of mononuclear cell migration, cell chemotaxis, positive regulation of T cell chemotaxis, cell-cell signaling, G protein-coupled receptor signaling pathway, immune response, chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000213928 chr14 24161053 24166565 + IRF9 protein_coding This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Mutations in this gene result in Immunodeficiency 65. [provided by RefSeq, Jul 2020]. 10379 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000785, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060337, GO:0060333, GO:0051607, GO:0007166, GO:0006366, GO:0006357, GO:0006357, GO:0002376, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, defense response to virus, cell surface receptor signaling pathway, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, immune system process, 414 330 443 312 251 343 317 224 276 ENSG00000213930 chr9 34638133 34651035 + GALT protein_coding Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 2592 GO:0005829, GO:0005794, GO:0005737, cytosol, Golgi apparatus, cytoplasm, GO:0008270, GO:0008108, GO:0008108, GO:0008108, GO:0005515, zinc ion binding, UDP-glucose:hexose-1-phosphate uridylyltransferase activity, UDP-glucose:hexose-1-phosphate uridylyltransferase activity, UDP-glucose:hexose-1-phosphate uridylyltransferase activity, protein binding, GO:0033499, GO:0019388, GO:0006258, GO:0006012, GO:0006011, galactose catabolic process via UDP-galactose, galactose catabolic process, UDP-glucose catabolic process, galactose metabolic process, UDP-glucose metabolic process, 35 34 57 90 41 87 44 36 40 ENSG00000213931 chr11 5268345 5505652 - HBE1 protein_coding The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008]. 3046 GO:0072562, GO:0031838, GO:0005833, GO:0005829, blood microparticle, haptoglobin-hemoglobin complex, hemoglobin complex, cytosol, GO:0046872, GO:0044877, GO:0043177, GO:0031721, GO:0031720, GO:0020037, GO:0019825, GO:0005515, GO:0005344, GO:0004601, metal ion binding, protein-containing complex binding, organic acid binding, hemoglobin alpha binding, haptoglobin binding, heme binding, oxygen binding, protein binding, oxygen carrier activity, peroxidase activity, GO:0098869, GO:0042744, GO:0015671, GO:0014070, GO:0007596, cellular oxidant detoxification, hydrogen peroxide catabolic process, oxygen transport, response to organic cyclic compound, blood coagulation, 0 0 0 0 0 0 0 0 0 ENSG00000213934 chr11 5248079 5249859 - HBG1 protein_coding The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]. 3047 GO:0031838, GO:0005833, GO:0005829, haptoglobin-hemoglobin complex, hemoglobin complex, cytosol, GO:0046872, GO:0043177, GO:0031721, GO:0031720, GO:0020037, GO:0019825, GO:0005344, GO:0004601, metal ion binding, organic acid binding, hemoglobin alpha binding, haptoglobin binding, heme binding, oxygen binding, oxygen carrier activity, peroxidase activity, GO:0098869, GO:0042744, GO:0015671, GO:0007596, cellular oxidant detoxification, hydrogen peroxide catabolic process, oxygen transport, blood coagulation, 0 0 0 8 0 0 1 0 0 ENSG00000213935 chr7 4865432 4865804 - RPL22P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213937 chr16 3012456 3014505 + CLDN9 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010]. 9080 GO:0043231, GO:0030054, GO:0016021, GO:0005923, GO:0005923, GO:0005886, GO:0005886, intracellular membrane-bounded organelle, cell junction, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, plasma membrane, GO:0042802, GO:0005515, GO:0005198, GO:0001618, identical protein binding, protein binding, structural molecule activity, virus receptor activity, GO:0070830, GO:0046718, GO:0016338, GO:0007155, bicellular tight junction assembly, viral entry into host cell, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 80 112 105 129 225 206 137 149 204 ENSG00000213938 chr2 199659551 199660729 + SEPHS1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213939 chr17 4704816 4705217 - AC091153.1 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000213940 chr5 53206561 53207176 + AC026477.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213942 chr12 6409637 6410013 - AC005840.1 processed_pseudogene 1 0 2 0 3 0 5 0 0 ENSG00000213943 chr3 12787393 12788671 - KRT18P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213946 chr2 191881182 191882205 - DNAJB1P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000213949 chr5 52787896 52959210 + ITGA1 protein_coding This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]. 3672 GO:0070062, GO:0045178, GO:0045121, GO:0043204, GO:0043005, GO:0034665, GO:0016020, GO:0009986, GO:0009986, GO:0009897, GO:0008305, GO:0005925, GO:0005925, GO:0005886, GO:0001669, extracellular exosome, basal part of cell, membrane raft, perikaryon, neuron projection, integrin alpha1-beta1 complex, membrane, cell surface, cell surface, external side of plasma membrane, integrin complex, focal adhesion, focal adhesion, plasma membrane, acrosomal vesicle, GO:0098639, GO:0046872, GO:0019903, GO:0005518, GO:0005515, GO:0005102, collagen binding involved in cell-matrix adhesion, metal ion binding, protein phosphatase binding, collagen binding, protein binding, signaling receptor binding, GO:0048812, GO:0045123, GO:0043525, GO:0042311, GO:0042059, GO:0032516, GO:0030593, GO:0030198, GO:0008285, GO:0007229, GO:0007160, GO:0006936, GO:0000187, neuron projection morphogenesis, cellular extravasation, positive regulation of neuron apoptotic process, vasodilation, negative regulation of epidermal growth factor receptor signaling pathway, positive regulation of phosphoprotein phosphatase activity, neutrophil chemotaxis, extracellular matrix organization, negative regulation of cell population proliferation, integrin-mediated signaling pathway, cell-matrix adhesion, muscle contraction, activation of MAPK activity, 48 45 108 29 28 73 40 44 53 ENSG00000213950 chr20 14757563 14758056 + RPS10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213954 chr9 14068932 14069417 + ATP5PDP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213956 chr5 50633124 50633602 + AC112187.1 processed_pseudogene 1 0 0 0 0 0 1 0 0 ENSG00000213958 chr2 181961212 181962478 - KRT18P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213959 chr20 38614913 38615476 - AL035419.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213962 chr2 177997273 177998770 - API5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213963 chr2 177283508 177392691 - AC019080.1 sense_overlapping 100130691 1 0 5 4 1 4 3 0 3 ENSG00000213964 chr3 11234256 11234582 - CHCHD4P4 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000213965 chr19 32691961 32713796 + NUDT19 protein_coding 390916 GO:0005829, GO:0005782, GO:0005575, cytosol, peroxisomal matrix, cellular_component, GO:0047617, GO:0046872, acyl-CoA hydrolase activity, metal ion binding, GO:0009062, GO:0008150, GO:0006625, fatty acid catabolic process, biological_process, protein targeting to peroxisome, 13 15 16 20 10 16 6 7 11 ENSG00000213967 chr19 23914876 23945159 + ZNF726 protein_coding 730087 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 0 0 3 0 0 0 3 1 ENSG00000213970 chr12 4323724 4324811 - AC006122.1 transcribed_processed_pseudogene 1 0 2 0 0 0 0 1 0 ENSG00000213972 chr6 25272200 25273751 - AL024509.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000213973 chr19 22752183 22784107 - ZNF99 protein_coding 7652 GO:0005634, GO:0005634, nucleus, nucleus, GO:0046872, GO:0003677, GO:0001228, GO:0000978, metal ion binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000213976 chr19 21382865 21387177 + AC010615.1 unprocessed_pseudogene 21 8 22 10 12 10 13 4 0 ENSG00000213977 chr17 3662896 3668682 - TAX1BP3 protein_coding This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]. 30851 GO:0070062, GO:0043231, GO:0015629, GO:0005886, GO:0005829, GO:0005737, GO:0001650, extracellular exosome, intracellular membrane-bounded organelle, actin cytoskeleton, plasma membrane, cytosol, cytoplasm, fibrillar center, GO:0008022, GO:0008013, GO:0005515, protein C-terminus binding, beta-catenin binding, protein binding, GO:2000009, GO:2000009, GO:0090630, GO:0090630, GO:0030178, GO:0016055, GO:0008285, GO:0007266, GO:0007266, negative regulation of protein localization to cell surface, negative regulation of protein localization to cell surface, activation of GTPase activity, activation of GTPase activity, negative regulation of Wnt signaling pathway, Wnt signaling pathway, negative regulation of cell population proliferation, Rho protein signal transduction, Rho protein signal transduction, 3 1 6 1 6 5 6 2 5 ENSG00000213979 chr20 37444733 37445534 - RPL7AP14 processed_pseudogene 0 1 0 0 0 0 0 1 0 ENSG00000213981 chr2 170640374 170695374 - AC007277.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000213983 chr14 23559565 23568070 - AP1G2 protein_coding Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017]. 8906 GO:0030133, GO:0030121, GO:0030121, GO:0016020, GO:0010008, GO:0005798, GO:0005794, GO:0000139, transport vesicle, AP-1 adaptor complex, AP-1 adaptor complex, membrane, endosome membrane, Golgi-associated vesicle, Golgi apparatus, Golgi membrane, GO:0140312, GO:0035615, GO:0005515, cargo adaptor activity, clathrin adaptor activity, protein binding, GO:0016192, GO:0016032, GO:0006898, GO:0006896, GO:0006886, vesicle-mediated transport, viral process, receptor-mediated endocytosis, Golgi to vacuole transport, intracellular protein transport, 442 525 690 757 670 778 592 429 662 ENSG00000213985 chr19 20257720 20259418 + AC078899.1 processed_pseudogene 12 12 19 10 6 4 5 12 1 ENSG00000213987 chr1 41264550 41264862 - AC093151.1 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000213988 chr19 20077994 20127076 + ZNF90 protein_coding 7643 GO:0000785, chromatin, GO:0008270, GO:0003700, GO:0000981, GO:0000978, zinc ion binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 2 6 13 3 13 16 6 6 17 ENSG00000213994 chr10 6197612 6202693 - AL157395.1 antisense 3 1 0 4 5 0 1 2 0 ENSG00000213995 chr13 110615460 110639993 + NAXD protein_coding 55739 GO:0005759, GO:0005575, mitochondrial matrix, cellular_component, GO:0052855, GO:0047453, GO:0047453, GO:0047453, GO:0005524, GO:0005515, ADP-dependent NAD(P)H-hydrate dehydratase activity, ATP-dependent NAD(P)H-hydrate dehydratase activity, ATP-dependent NAD(P)H-hydrate dehydratase activity, ATP-dependent NAD(P)H-hydrate dehydratase activity, ATP binding, protein binding, GO:0110051, GO:0034356, GO:0008150, metabolite repair, NAD biosynthesis via nicotinamide riboside salvage pathway, biological_process, 56 56 76 98 77 92 77 44 68 ENSG00000213996 chr19 19264364 19273391 - TM6SF2 protein_coding 53345 GO:0033116, GO:0033116, GO:0016021, GO:0005789, GO:0005789, endoplasmic reticulum-Golgi intermediate compartment membrane, endoplasmic reticulum-Golgi intermediate compartment membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:0055088, GO:0019216, GO:0019216, GO:0006629, lipid homeostasis, regulation of lipid metabolic process, regulation of lipid metabolic process, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000213997 chrX 46646594 46647330 - PGAM1P7 processed_pseudogene 0 3 0 2 2 0 0 0 0 ENSG00000213999 chr19 19145568 19170289 - MEF2B protein_coding The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014]. 100271849 GO:0030054, GO:0005829, GO:0005667, GO:0005654, GO:0000785, GO:0000785, cell junction, cytosol, transcription regulator complex, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0046983, GO:0042826, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein dimerization activity, histone deacetylase binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045944, GO:0030154, GO:0007517, GO:0006357, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, cell differentiation, muscle organ development, regulation of transcription by RNA polymerase II, 13 8 6 17 21 8 18 11 13 ENSG00000214003 chr7 152749079 152749735 + ATP5PBP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214009 chrX 46058751 46059528 - PCNAP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214012 chr6 19612755 19614036 + KRT18P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214013 chr15 42273233 42356935 + GANC protein_coding Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]. 2595 GO:0090599, GO:0032450, GO:0030246, GO:0004558, GO:0004558, GO:0004553, alpha-glucosidase activity, maltose alpha-glucosidase activity, carbohydrate binding, alpha-1,4-glucosidase activity, alpha-1,4-glucosidase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, GO:0006491, GO:0000023, N-glycan processing, maltose metabolic process, 107 123 123 88 108 89 93 95 103 ENSG00000214015 chr10 6071514 6071918 - RPL32P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214016 chrX 44741087 44741964 + RPSAP61 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214018 chrX 44309314 44310476 - RRM2P3 processed_pseudogene 35 22 51 14 12 41 21 15 18 ENSG00000214019 chrX 44029332 44030921 + AL034370.1 processed_pseudogene 10 3 7 4 6 30 2 5 2 ENSG00000214020 chr9 30935485 30935977 + FTLP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214021 chr3 9808086 9855138 + TTLL3 protein_coding 26140 GO:0015630, GO:0005930, GO:0005929, GO:0005874, GO:0005829, microtubule cytoskeleton, axoneme, cilium, microtubule, cytosol, GO:0070736, GO:0070735, GO:0005524, protein-glycine ligase activity, initiating, protein-glycine ligase activity, ATP binding, GO:0060271, GO:0035082, GO:0018094, GO:0018094, cilium assembly, axoneme assembly, protein polyglycylation, protein polyglycylation, 593 539 670 798 945 838 890 581 667 ENSG00000214022 chr7 150368189 150374044 + REPIN1 protein_coding 29803 GO:0005694, GO:0005664, GO:0005654, chromosome, nuclear origin of replication recognition complex, nucleoplasm, GO:0046872, GO:0043035, GO:0003723, GO:0003677, metal ion binding, chromatin insulator sequence binding, RNA binding, DNA binding, GO:0006357, GO:0006260, regulation of transcription by RNA polymerase II, DNA replication, 278 360 334 474 497 427 425 437 387 ENSG00000214024 chr2 153370612 153371064 + RPL23AP29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214025 chr2 153158938 153159683 + ATP5PBP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214026 chr11 1947278 1984522 + MRPL23 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]. 6150 GO:0005762, GO:0005762, GO:0005743, GO:0005739, GO:0001650, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, fibrillar center, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 34 9 17 16 27 16 12 23 25 ENSG00000214027 chr6 15934782 15935315 + ARPC3P5 processed_pseudogene 1 0 2 0 0 0 0 0 0 ENSG00000214029 chr12 133106817 133130473 - ZNF891 protein_coding 101060200 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 91 130 116 163 111 127 143 78 96 ENSG00000214031 chrX 40760104 40761270 - AC092474.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214035 chr7 145009961 145010993 + AC073310.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214039 chr12 130033454 130045057 - LINC02418 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000214041 chr3 9348443 9349192 + PGAM1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214042 chr9 21201469 21202205 - IFNA7 protein_coding 3444 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005132, GO:0005125, type I interferon receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0009615, GO:0007596, GO:0007267, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, response to virus, blood coagulation, cell-cell signaling, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000214043 chr12 126442481 126472790 + LINC02347 lincRNA 100128554 0 0 0 0 0 0 0 0 0 ENSG00000214045 chrX 40359183 40360726 - AC091807.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214046 chr19 16630751 16660442 - SMIM7 protein_coding 79086 GO:0016021, integral component of membrane, 87 121 96 79 127 143 72 94 105 ENSG00000214047 chrX 39865424 39865888 + RPS11P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214049 chr19 15828206 15836326 + UCA1 lincRNA 1 0 1 0 0 0 1 0 0 ENSG00000214050 chr8 28348287 28490318 - FBXO16 protein_coding This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. 157574 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000214051 chr13 100756551 100757059 - ARF4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214062 chr4 77082403 77083126 - RPL7P17 processed_pseudogene 1 4 1 3 7 0 1 2 0 ENSG00000214063 chr11 842808 867116 + TSPAN4 protein_coding The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 7106 GO:0031982, GO:0005925, GO:0005887, GO:0005886, vesicle, focal adhesion, integral component of plasma membrane, plasma membrane, GO:0005515, GO:0005178, GO:0003823, protein binding, integrin binding, antigen binding, GO:0065003, protein-containing complex assembly, 0 3 15 5 8 16 7 4 23 ENSG00000214064 chr2 145337230 145338057 + RPL6P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214067 chr10 110257064 110257843 + AL360182.1 processed_pseudogene 0 0 0 1 2 1 0 0 0 ENSG00000214070 chr2 135897955 135898978 - AC011999.1 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000214071 chrX 37077851 37078401 - BX842568.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214073 chr3 1905651 1906125 + RPL21P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214074 chr3 1730070 1730474 + RPL23AP39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214076 chr22 32269381 32273110 + CPSF1P1 processed_pseudogene 0 0 0 0 0 1 1 0 0 ENSG00000214077 chr2 131423801 131424867 - GNAQP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214078 chr20 35626031 35664956 - CPNE1 protein_coding Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008]. 8904 GO:0070062, GO:0035577, GO:0031965, GO:0016020, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005634, extracellular exosome, azurophil granule membrane, nuclear membrane, membrane, plasma membrane, plasma membrane, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0051059, GO:0042802, GO:0005544, GO:0005515, GO:0005509, GO:0005215, GO:0004175, GO:0001786, NF-kappaB binding, identical protein binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, transporter activity, endopeptidase activity, phosphatidylserine binding, GO:1990138, GO:1990138, GO:1903265, GO:1903265, GO:1901223, GO:0071277, GO:0071277, GO:0051897, GO:0051897, GO:0046474, GO:0045666, GO:0045666, GO:0043392, GO:0043312, GO:0043122, GO:0043122, GO:0016192, GO:0010629, GO:0006629, GO:0006508, neuron projection extension, neuron projection extension, positive regulation of tumor necrosis factor-mediated signaling pathway, positive regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of NIK/NF-kappaB signaling, cellular response to calcium ion, cellular response to calcium ion, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, glycerophospholipid biosynthetic process, positive regulation of neuron differentiation, positive regulation of neuron differentiation, negative regulation of DNA binding, neutrophil degranulation, regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, vesicle-mediated transport, negative regulation of gene expression, lipid metabolic process, proteolysis, 638 749 952 494 686 783 574 606 594 ENSG00000214081 chr2 130680050 130685863 + CYP4F30P transcribed_unprocessed_pseudogene 100132708 0 0 0 0 0 0 0 0 0 ENSG00000214087 chr17 81681174 81683924 - ARL16 protein_coding The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). This protein has been shown to have an inhibitory role in the cellular antiviral response. This gene product interacts with the C-terminal domain of the DEXD/H-box helicase 58 (DDX58) gene product. This interaction was found to suppress the association between the DDX58 gene product and RNA, thereby negatively regulating the activity of the DDX58 gene product. [provided by RefSeq, Jul 2016]. 339231 GO:0005525, GO:0005515, GTP binding, protein binding, 64 55 54 104 93 80 88 68 73 ENSG00000214089 chr10 44414649 44415153 - RPL9P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214093 chr22 31559483 31559939 + AL096701.1 processed_pseudogene 1 9 7 4 18 3 5 11 12 ENSG00000214097 chr3 196506877 196515366 - SMCO1 protein_coding 255798 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 1 4 10 3 0 0 ENSG00000214100 chr2 129922863 129934317 - PLAC9P1 transcribed_unprocessed_pseudogene 389033 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000214102 chr7 141708353 141731271 + WEE2 protein_coding 494551 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0005524, GO:0004715, GO:0004713, GO:0004672, GO:0000287, ATP binding, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein kinase activity, magnesium ion binding, GO:1900194, GO:0080154, GO:0060631, GO:0060631, GO:0045736, GO:0042327, GO:0035038, GO:0018108, GO:0007143, GO:0007093, negative regulation of oocyte maturation, regulation of fertilization, regulation of meiosis I, regulation of meiosis I, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of phosphorylation, female pronucleus assembly, peptidyl-tyrosine phosphorylation, female meiotic nuclear division, mitotic cell cycle checkpoint, 0 0 0 0 0 0 0 0 0 ENSG00000214106 chr7 154928485 154952188 + PAXIP1-AS2 antisense 116 109 112 97 112 97 80 61 85 ENSG00000214107 chrX 30243730 30252038 + MAGEB1 protein_coding This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]. 4112 0 0 0 0 0 0 0 0 0 ENSG00000214108 chr5 31908361 31909186 + TPT1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214110 chr9 14921337 14922334 - LDHAP4 processed_pseudogene 1 0 1 2 0 1 5 0 1 ENSG00000214111 chrX 25029545 25030235 + AC002504.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214113 chr6 5102593 5260939 - LYRM4 protein_coding The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. [provided by RefSeq, Sep 2016]. 57128 GO:1990221, GO:0016604, GO:0005759, GO:0005739, L-cysteine desulfurase complex, nuclear body, mitochondrial matrix, mitochondrion, GO:0005515, protein binding, GO:0044281, GO:0016226, small molecule metabolic process, iron-sulfur cluster assembly, 5 5 8 28 12 16 8 5 24 ENSG00000214114 chr1 38862964 38874105 - MYCBP protein_coding The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. [provided by RefSeq, Nov 2011]. 26292 GO:0005739, GO:0005737, GO:0005654, GO:0005634, GO:0005634, mitochondrion, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003713, GO:0003713, protein binding, transcription coactivator activity, transcription coactivator activity, GO:1903508, GO:0007283, GO:0006355, GO:0006355, positive regulation of nucleic acid-templated transcription, spermatogenesis, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, 234 252 248 191 397 305 283 334 269 ENSG00000214121 chr9 12972843 12973438 - PRDX1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214124 chrX 24513450 24513687 + SNRPEP9 processed_pseudogene 1 2 0 0 1 0 1 0 2 ENSG00000214125 chr22 31155966 31156647 - AC005005.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214128 chr7 138797952 138838101 + TMEM213 protein_coding 155006 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000214132 chr5 20304045 20305448 - AC094103.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000214135 chr3 197578213 197627906 - AC132008.2 transcribed_unprocessed_pseudogene 220729 72 69 83 109 128 127 120 78 115 ENSG00000214140 chr17 76527586 76553578 + PRCD protein_coding This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]. 768206 GO:0042622, GO:0042622, GO:0005794, GO:0005783, GO:0005737, GO:0005576, photoreceptor outer segment membrane, photoreceptor outer segment membrane, Golgi apparatus, endoplasmic reticulum, cytoplasm, extracellular region, GO:0002046, GO:0002046, opsin binding, opsin binding, GO:0050896, GO:0007601, response to stimulus, visual perception, 3 9 9 6 19 6 3 13 9 ENSG00000214141 chr1 37776670 37779418 + ACTN4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214142 chr7 100139629 100140682 - RPL7P60 processed_pseudogene 1 3 3 0 0 0 1 4 0 ENSG00000214144 chr1 247229940 247231880 + AL390728.1 processed_pseudogene 0 0 0 2 1 0 0 1 0 ENSG00000214145 chr3 194296465 194312803 - LINC00887 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000214146 chr3 193957372 194003659 - LINC02026 lincRNA 647323 0 0 0 0 0 0 0 0 0 ENSG00000214147 chr3 190830965 190832173 + AC092952.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000214160 chr3 184242301 184249548 - ALG3 protein_coding This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. 10195 GO:0016021, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0052925, GO:0005515, GO:0000033, GO:0000033, dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity, protein binding, alpha-1,3-mannosyltransferase activity, alpha-1,3-mannosyltransferase activity, GO:0097502, GO:0006488, GO:0006486, GO:0006486, mannosylation, dolichol-linked oligosaccharide biosynthetic process, protein glycosylation, protein glycosylation, 8 6 13 22 9 42 13 10 27 ENSG00000214161 chr22 30481311 30481911 - SDC4P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214174 chr17 64966550 64975576 - AMZ2P1 transcribed_unprocessed_pseudogene 201283 117 143 98 102 114 92 71 86 74 ENSG00000214176 chr17 64779259 64837154 - PLEKHM1P1 transcribed_unprocessed_pseudogene 1423 1763 1964 994 1956 1533 1341 1691 1436 ENSG00000214178 chr13 91272081 91272577 - PPIAP23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214182 chr13 81689911 81691072 + PTMAP5 transcribed_processed_pseudogene 13 13 33 23 16 38 33 10 27 ENSG00000214184 chr2 108507515 108534196 - GCC2-AS1 antisense 644903 19 32 39 23 21 9 23 17 13 ENSG00000214185 chr20 34213495 34215892 - XPOTP1 processed_pseudogene 1 0 7 1 4 1 4 2 0 ENSG00000214188 chr7 116953899 117098806 + ST7-OT4 sense_intronic 338069 0 0 0 0 0 0 0 0 0 ENSG00000214189 chr19 12092263 12137235 + ZNF788P transcribed_unprocessed_pseudogene 19 12 24 7 6 15 6 7 2 ENSG00000214190 chr9 5418373 5418976 - RNF152P1 processed_pseudogene 0 0 0 0 0 1 2 0 0 ENSG00000214192 chr3 175718231 175718670 - UBE2V1P2 processed_pseudogene 2 4 1 3 0 9 9 2 1 ENSG00000214193 chr1 36306387 36324886 + SH3D21 protein_coding 79729 GO:0005886, GO:0005654, plasma membrane, nucleoplasm, 318 314 428 162 223 227 169 204 223 ENSG00000214194 chr7 113116718 113118613 - SMIM30 protein_coding 401397 GO:0016021, integral component of membrane, 4 6 13 19 9 43 36 5 16 ENSG00000214195 chr9 5311444 5311716 + HMGN2P31 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000214198 chr12 103843749 103930211 - TTC41P transcribed_unitary_pseudogene 4 4 8 0 0 2 2 6 6 ENSG00000214199 chr2 106697331 106698676 - EEF1A1P12 processed_pseudogene 0 1 0 0 0 0 1 0 4 ENSG00000214200 chr20 33912323 33913336 - TPM3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214203 chr12 100009052 100009838 - RPS4XP1 processed_pseudogene 3 1 9 13 10 15 15 8 13 ENSG00000214204 chr1 115856910 115857819 - HNRNPA1P43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214207 chrY 5573145 5574431 + KRT18P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214210 chr3 164001606 164002465 - AC084017.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214211 chr2 167713663 167716065 - CTAGE14P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214212 chr19 10836575 10869790 + C19orf38 protein_coding 255809 GO:0016021, integral component of membrane, GO:0005515, protein binding, 511 429 569 286 447 340 293 451 280 ENSG00000214216 chr3 158962928 159266307 + IQCJ protein_coding 654502 0 0 0 0 0 0 0 0 0 ENSG00000214222 chr13 41384773 41385183 - TUBBP2 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000214223 chr19 11666069 11667030 - HNRNPA1P10 processed_pseudogene 664709 18 10 26 28 18 20 22 19 12 ENSG00000214226 chr17 56791913 56838773 - C17orf67 protein_coding 339210 GO:0005576, extracellular region, GO:0005515, protein binding, 4 11 21 23 16 12 11 11 31 ENSG00000214237 chr3 150871045 150905439 - MINDY4B protein_coding 646951 GO:1990380, GO:0004843, Lys48-specific deubiquitinase activity, thiol-dependent ubiquitin-specific protease activity, GO:0071108, protein K48-linked deubiquitination, 1 0 2 0 0 2 0 0 0 ENSG00000214243 chr7 76650401 76650897 - AC004980.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214244 chr5 60459848 60460739 - SETP21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214245 chr20 33047517 33048152 - PUDPP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214248 chr19 7898804 7903542 - AC010336.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000214249 chr13 75237944 75240296 - CTAGE11P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214252 chr7 101287482 101289771 - AZGP1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214253 chr7 101239458 101252316 - FIS1 protein_coding The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]. 51024 GO:0032991, GO:0031307, GO:0031307, GO:0031307, GO:0016020, GO:0005783, GO:0005779, GO:0005779, GO:0005777, GO:0005777, GO:0005739, protein-containing complex, integral component of mitochondrial outer membrane, integral component of mitochondrial outer membrane, integral component of mitochondrial outer membrane, membrane, endoplasmic reticulum, integral component of peroxisomal membrane, integral component of peroxisomal membrane, peroxisome, peroxisome, mitochondrion, GO:0044877, GO:0042802, GO:0005515, protein-containing complex binding, identical protein binding, protein binding, GO:2001244, GO:2000192, GO:1990910, GO:1905395, GO:1904579, GO:1903579, GO:1902617, GO:1901653, GO:0097237, GO:0090314, GO:0090141, GO:0071333, GO:0070584, GO:0051561, GO:0043653, GO:0043653, GO:0043653, GO:0043525, GO:0043280, GO:0035584, GO:0032471, GO:0031667, GO:0016559, GO:0016559, GO:0016559, GO:0014850, GO:0010821, GO:0008053, GO:0007204, GO:0006626, GO:0001836, GO:0000422, GO:0000422, GO:0000266, GO:0000266, GO:0000266, positive regulation of intrinsic apoptotic signaling pathway, negative regulation of fatty acid transport, response to hypobaric hypoxia, response to flavonoid, cellular response to thapsigargin, negative regulation of ATP metabolic process, response to fluoride, cellular response to peptide, cellular response to toxic substance, positive regulation of protein targeting to membrane, positive regulation of mitochondrial fission, cellular response to glucose stimulus, mitochondrion morphogenesis, positive regulation of mitochondrial calcium ion concentration, mitochondrial fragmentation involved in apoptotic process, mitochondrial fragmentation involved in apoptotic process, mitochondrial fragmentation involved in apoptotic process, positive regulation of neuron apoptotic process, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, calcium-mediated signaling using intracellular calcium source, negative regulation of endoplasmic reticulum calcium ion concentration, response to nutrient levels, peroxisome fission, peroxisome fission, peroxisome fission, response to muscle activity, regulation of mitochondrion organization, mitochondrial fusion, positive regulation of cytosolic calcium ion concentration, protein targeting to mitochondrion, release of cytochrome c from mitochondria, autophagy of mitochondrion, autophagy of mitochondrion, mitochondrial fission, mitochondrial fission, mitochondrial fission, 256 226 283 129 196 214 150 189 170 ENSG00000214254 chr15 27208089 27208635 - AC136896.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214255 chr18 70430231 70431125 + RPS2P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214259 chr16 85815873 85816536 - AC018695.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214262 chr1 168245565 168247343 - ANKRD36BP1 transcribed_processed_pseudogene 84832 GO:0005515, protein binding, 58 62 142 32 52 101 34 47 67 ENSG00000214263 chr13 67266845 67267706 - RPSAP53 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214264 chr11 112180773 112183191 + KCTD9P4 processed_pseudogene 1 0 1 0 0 0 0 1 0 ENSG00000214265 chr15 24955034 25000276 + AC124312.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000214266 chr13 65309855 65310953 - STARP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214268 chr8 7190901 7191563 - RPS3AP33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214269 chr13 64958097 64959396 - LGMNP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214273 chr4 190041342 190043414 + AGGF1P1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000214274 chr14 20684177 20698971 + ANG protein_coding The protein encoded by this gene is a member of the RNase A superfamily though it has relatively weak ribonucleolytic activity. This protein is a potent mediator of new blood vessel formation and thus, in addition to the name RNase5, is commonly called angiogenin. This protein induces angiogenesis after binding to actin on the surface of endothelial cells. This protein also accumulates at the nucleolus where it stimulates ribosomal transcription. Under stress conditions this protein translocates to the cytosol where it hydrolyzes cellular tRNAs and influences protein synthesis. A signal peptide is cleaved from the precursor protein to produce a mature protein which contains a nuclear localization signal, a cell binding motif, and a catalytic domain. This protein has been shown to be both neurotrophic and neuroprotective and the mature protein has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Due to its effect on rRNA production and angiogenesis this gene plays important roles in cell growth and tumor progression. Mutations in this gene are associated with progression of amyotrophic lateral sclerosis (ALS). This gene and the neighboring RNase4 gene share promoters and 5' exons though each gene then splices to a distinct 3' exon containing the complete coding region of each gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2020]. 283 GO:0043025, GO:0032311, GO:0032311, GO:0031410, GO:0030426, GO:0015629, GO:0005730, GO:0005730, GO:0005634, GO:0005615, GO:0005615, GO:0005604, GO:0005576, neuronal cell body, angiogenin-PRI complex, angiogenin-PRI complex, cytoplasmic vesicle, growth cone, actin cytoskeleton, nucleolus, nucleolus, nucleus, extracellular space, extracellular space, basement membrane, extracellular region, GO:0042803, GO:0042277, GO:0019843, GO:0008201, GO:0005515, GO:0005507, GO:0005102, GO:0004540, GO:0004540, GO:0004519, GO:0003779, GO:0003677, protein homodimerization activity, peptide binding, rRNA binding, heparin binding, protein binding, copper ion binding, signaling receptor binding, ribonuclease activity, ribonuclease activity, endonuclease activity, actin binding, DNA binding, GO:0090501, GO:0061844, GO:0050830, GO:0050714, GO:0050714, GO:0048662, GO:0045087, GO:0042592, GO:0042327, GO:0034332, GO:0032431, GO:0032148, GO:0030041, GO:0019731, GO:0017148, GO:0016477, GO:0009725, GO:0009303, GO:0007202, GO:0007154, GO:0006651, GO:0001938, GO:0001890, GO:0001666, GO:0001666, GO:0001556, GO:0001541, GO:0001525, GO:0001525, GO:0001525, GO:0001525, RNA phosphodiester bond hydrolysis, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, positive regulation of protein secretion, positive regulation of protein secretion, negative regulation of smooth muscle cell proliferation, innate immune response, homeostatic process, positive regulation of phosphorylation, adherens junction organization, activation of phospholipase A2 activity, activation of protein kinase B activity, actin filament polymerization, antibacterial humoral response, negative regulation of translation, cell migration, response to hormone, rRNA transcription, activation of phospholipase C activity, cell communication, diacylglycerol biosynthetic process, positive regulation of endothelial cell proliferation, placenta development, response to hypoxia, response to hypoxia, oocyte maturation, ovarian follicle development, angiogenesis, angiogenesis, angiogenesis, angiogenesis, 0 0 0 0 0 0 0 3 0 ENSG00000214278 chr5 403731 404546 - AC010442.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000214279 chr10 133453928 133523558 + SCART1 protein_coding 7 5 23 37 1 27 18 11 8 ENSG00000214280 chr3 139582928 139583593 - AC046134.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000214281 chr13 59010332 59010604 + HMGN2P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214282 chrX 45632292 45633733 - KRT8P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214283 chr3 136899076 136900076 - RAD51AP1P1 processed_pseudogene 0 0 1 1 0 0 0 0 0 ENSG00000214285 chr10 127549369 127552639 + NPS protein_coding 594857 GO:0005576, extracellular region, GO:0051968, GO:0045760, GO:0032230, GO:0010841, GO:0008542, GO:0007218, GO:0007186, positive regulation of synaptic transmission, glutamatergic, positive regulation of action potential, positive regulation of synaptic transmission, GABAergic, positive regulation of circadian sleep/wake cycle, wakefulness, visual learning, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000214286 chr3 17877455 17878169 - PDCL3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214288 chr3 134437605 134438211 + HMGB3P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214289 chr3 134351852 134356561 - RPL39P5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214290 chr11 111298555 111308735 + COLCA2 protein_coding 120376 GO:0005737, GO:0005737, cytoplasm, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000214293 chr7 77657660 77696265 - APTR lincRNA 100505854 104 66 89 56 107 88 68 89 79 ENSG00000214295 chr5 181099140 181100666 - FOXO1B processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214297 chr10 125666875 125667950 - ALDOAP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214298 chr10 125166677 125166937 + MRPS21P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214300 chr7 100307702 100322196 + SPDYE3 protein_coding 441272 GO:0019901, protein kinase binding, 4 2 6 15 7 12 14 7 12 ENSG00000214301 chr3 133490824 133491505 + AC022296.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214305 chr3 39161270 39161520 + RF00017 misc_RNA 0 0 0 0 1 0 2 0 0 ENSG00000214309 chr7 100126694 100128498 + MBLAC1 protein_coding 255374 GO:0046872, GO:0016787, metal ion binding, hydrolase activity, 1 6 7 5 4 5 1 3 12 ENSG00000214313 chr7 99980762 99987535 + AZGP1P1 transcribed_unprocessed_pseudogene 646282 0 0 0 0 0 0 0 0 0 ENSG00000214318 chr18 63496989 63497400 + ATP5MC1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214319 chr21 13676022 13677116 + CXADRP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214321 chrX 17282637 17283093 + CBX1P4 processed_pseudogene 9 0 1 12 5 4 1 2 0 ENSG00000214322 chrX 17099782 17100239 - CBX1P2 processed_pseudogene 5 0 3 5 3 12 4 1 14 ENSG00000214324 chr3 127193131 127198185 + C3orf56 protein_coding 285311 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000214326 chr21 43551229 43551600 + RPL31P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214329 chr2 91883076 91931714 - SLC9B1P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214330 chr2 91840601 91843802 + ABCD1P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214331 chr16 74332402 74368240 - AC009053.1 transcribed_unprocessed_pseudogene 53 57 53 55 79 61 50 55 37 ENSG00000214335 chr13 58528615 58531026 + CTAGE16P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214336 chr2 88446787 88452656 - FOXI3 protein_coding 344167 GO:0000785, chromatin, GO:0043565, GO:0000981, GO:0000978, sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000214338 chr6 127472794 127519191 - SOGA3 protein_coding 387104 GO:0016021, GO:0005615, integral component of membrane, extracellular space, GO:0010506, regulation of autophagy, 0 0 0 0 0 0 0 0 0 ENSG00000214342 chr7 94738652 94739411 + ATP5PBP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214344 chr15 101842119 101850324 + OR4F13P transcribed_unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390651 0 0 0 0 0 0 0 0 0 ENSG00000214347 chr19 6393794 6412404 + AC011491.1 transcribed_unitary_pseudogene 390877 0 0 0 0 0 0 0 0 0 ENSG00000214351 chr5 177836434 177837646 - OR1X5P unprocessed_pseudogene 0 1 2 0 0 0 2 0 0 ENSG00000214353 chr16 70755098 70773251 + VAC14-AS1 antisense 100130894 2 6 7 45 43 24 31 19 18 ENSG00000214354 chr2 87565828 87566764 - AC133644.1 processed_pseudogene 0 2 0 0 0 1 0 2 0 ENSG00000214357 chr5 172641266 172691540 + NEURL1B protein_coding 54492 GO:0005769, GO:0005769, early endosome, early endosome, GO:0061630, GO:0061630, GO:0046872, GO:0005515, ubiquitin protein ligase activity, ubiquitin protein ligase activity, metal ion binding, protein binding, GO:0070086, GO:0070086, GO:0016567, GO:0007219, ubiquitin-dependent endocytosis, ubiquitin-dependent endocytosis, protein ubiquitination, Notch signaling pathway, 0 0 1 1 0 2 0 1 6 ENSG00000214359 chr13 50099331 50099868 + RPL18P10 processed_pseudogene 4 13 8 6 3 12 6 3 4 ENSG00000214360 chr5 172194172 172203452 + EFCAB9 protein_coding This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]. 285588 GO:0097228, GO:0097228, GO:0005737, GO:0005737, sperm principal piece, sperm principal piece, cytoplasm, cytoplasm, GO:0061891, GO:0061891, GO:0005509, calcium ion sensor activity, calcium ion sensor activity, calcium ion binding, GO:0048240, GO:0048240, GO:0030317, GO:0030317, GO:0007283, sperm capacitation, sperm capacitation, flagellated sperm motility, flagellated sperm motility, spermatogenesis, 0 0 1 0 0 0 0 0 0 ENSG00000214362 chr10 95594598 95595372 + RPS3AP36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214366 chr8 14309033 14309672 + EIF4EP5 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000214367 chr4 2227464 2242164 - HAUS3 protein_coding This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. 79441 GO:0072686, GO:0072686, GO:0070652, GO:0070652, GO:0045171, GO:0015630, GO:0005874, GO:0005829, GO:0005813, GO:0005813, GO:0005739, GO:0005654, mitotic spindle, mitotic spindle, HAUS complex, HAUS complex, intercellular bridge, microtubule cytoskeleton, microtubule, cytosol, centrosome, centrosome, mitochondrion, nucleoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097711, GO:0051301, GO:0051225, GO:0051225, GO:0010389, GO:0007098, GO:0007098, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, spindle assembly, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, centrosome cycle, G2/M transition of mitotic cell cycle, 101 83 149 104 78 127 115 84 127 ENSG00000214369 chr2 169790093 169790885 + AC009967.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214374 chr6 27965175 27965514 + RPLP2P1 processed_pseudogene 0 0 3 0 0 0 0 0 0 ENSG00000214376 chr11 93818232 93850531 - VSTM5 protein_coding 387804 GO:0030425, GO:0030424, GO:0016021, GO:0005886, dendrite, axon, integral component of membrane, plasma membrane, GO:1904891, GO:0051260, GO:0046847, GO:0021517, positive regulation of excitatory synapse assembly, protein homooligomerization, filopodium assembly, ventral spinal cord development, 1 0 0 0 2 2 5 0 0 ENSG00000214380 chr3 109915976 109916940 - AC068781.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214381 chr3 109178143 109216965 + LINC00488 processed_transcript 677779 0 0 0 0 0 0 0 0 0 ENSG00000214389 chr7 98385801 98386584 - RPS3AP26 processed_pseudogene 26 13 35 55 19 59 37 22 32 ENSG00000214391 chr11 90282560 90284172 + TUBAP2 processed_pseudogene 0 0 2 0 0 0 0 1 3 ENSG00000214401 chr17 46193576 46196723 + KANSL1-AS1 antisense 644246 0 0 0 0 0 0 6 9 0 ENSG00000214402 chr9 136981904 136986410 + LCNL1 protein_coding 401562 GO:0036094, small molecule binding, 1 2 3 0 0 0 5 0 3 ENSG00000214405 chr3 104063039 104063582 + RAP1BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214407 chr3 101940859 101997926 + LINC02085 lincRNA 152225 GO:0005515, protein binding, 0 2 1 0 0 3 1 1 4 ENSG00000214413 chr10 110898730 110919274 - BBIP1 protein_coding This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 92482 GO:0034464, GO:0034464, GO:0005829, GO:0005737, BBSome, BBSome, cytosol, cytoplasm, GO:0005515, protein binding, GO:0097500, GO:0060271, GO:0015031, receptor localization to non-motile cilium, cilium assembly, protein transport, 1063 1291 1358 638 953 999 758 748 642 ENSG00000214414 chr11 89710299 89717872 + TRIM77 protein_coding 390231 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000214415 chr7 80458671 80512020 - GNAT3 protein_coding Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]. 346562 GO:0032991, GO:0016324, GO:0005930, GO:0005886, GO:0005834, GO:0001917, GO:0001750, GO:0001669, protein-containing complex, apical plasma membrane, axoneme, plasma membrane, heterotrimeric G-protein complex, photoreceptor inner segment, photoreceptor outer segment, acrosomal vesicle, GO:0046872, GO:0031683, GO:0005525, GO:0003924, GO:0001664, metal ion binding, G-protein beta/gamma-subunit complex binding, GTP binding, GTPase activity, G protein-coupled receptor binding, GO:0050917, GO:0050916, GO:0035094, GO:0007193, GO:0007188, GO:0007186, GO:0006457, GO:0001580, sensory perception of umami taste, sensory perception of sweet taste, response to nicotine, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, protein folding, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000214417 chr9 97698922 97700734 + KRT18P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214424 chr15 96756987 96758596 + FAM149B1P1 processed_pseudogene 1 0 0 0 0 2 0 1 0 ENSG00000214425 chr17 45506741 45550335 - LRRC37A4P transcribed_unprocessed_pseudogene 3 8 1 0 1 4 0 0 0 ENSG00000214428 chr6 104025540 104026763 - NPM1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214429 chr2 78412793 78413094 - CYCSP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214432 chr15 91022619 91036611 + VPS33B-DT antisense 101926911 0 0 0 0 0 0 0 0 0 ENSG00000214433 chr15 90291962 90295683 + GOLGA2P8 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214434 chr10 30380174 30381062 + NIFKP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214435 chr10 102869516 102901899 + AS3MT protein_coding AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]. 57412 GO:0005829, GO:0005829, GO:0005829, cytosol, cytosol, cytosol, GO:0030792, GO:0030792, GO:0030791, GO:0030791, GO:0030791, GO:0030791, GO:0008168, methylarsonite methyltransferase activity, methylarsonite methyltransferase activity, arsenite methyltransferase activity, arsenite methyltransferase activity, arsenite methyltransferase activity, arsenite methyltransferase activity, methyltransferase activity, GO:0032259, GO:0032259, GO:0018872, GO:0018872, GO:0009404, GO:0009404, methylation, methylation, arsonoacetate metabolic process, arsonoacetate metabolic process, toxin metabolic process, toxin metabolic process, 1 0 1 1 5 0 0 3 4 ENSG00000214439 chr7 77083787 77122116 - FAM185BP transcribed_unprocessed_pseudogene 56 66 56 49 54 34 45 47 67 ENSG00000214447 chr17 44899712 44905390 + FAM187A protein_coding 100528020 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000214455 chr13 45390353 45391267 - RCN1P2 processed_pseudogene 29 21 23 76 53 25 51 31 12 ENSG00000214456 chr19 4522531 4535224 - PLIN5 protein_coding Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]. 440503 GO:0043231, GO:0005829, GO:0005811, GO:0005811, GO:0005811, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, cytosol, lipid droplet, lipid droplet, lipid droplet, mitochondrion, cytoplasm, GO:0042802, GO:0035473, GO:0005515, identical protein binding, lipase binding, protein binding, GO:2000378, GO:0060193, GO:0060192, GO:0051646, GO:0035359, GO:0034389, GO:0032000, GO:0031999, GO:0019915, GO:0010897, GO:0010890, GO:0010890, GO:0010884, GO:0010867, negative regulation of reactive oxygen species metabolic process, positive regulation of lipase activity, negative regulation of lipase activity, mitochondrion localization, negative regulation of peroxisome proliferator activated receptor signaling pathway, lipid droplet organization, positive regulation of fatty acid beta-oxidation, negative regulation of fatty acid beta-oxidation, lipid storage, negative regulation of triglyceride catabolic process, positive regulation of sequestering of triglyceride, positive regulation of sequestering of triglyceride, positive regulation of lipid storage, positive regulation of triglyceride biosynthetic process, 539 464 707 565 634 729 653 498 577 ENSG00000214457 chr6 86970466 86971193 + RPL7P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214460 chr6 85427453 85427966 - TPT1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214465 chr2 26149204 26150731 + SMARCE1P6 processed_pseudogene 2 3 4 6 21 14 2 13 5 ENSG00000214484 chr2 73370019 73370892 + RPSAP28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214485 chr5 150094302 150095048 + RPL7P1 processed_pseudogene 99 65 170 257 112 243 190 133 187 ENSG00000214487 chr12 8427640 8428610 - OR7E148P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214491 chr22 30522799 30546682 - SEC14L6 protein_coding 730005 0 0 0 1 0 0 0 0 0 ENSG00000214510 chr5 148268180 148286254 + SPINK13 protein_coding 153218 GO:0005576, extracellular region, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:1902225, GO:0010951, negative regulation of acrosome reaction, negative regulation of endopeptidase activity, 2 0 0 0 0 0 0 0 0 ENSG00000214511 chr12 50953922 50970506 + HIGD1C protein_coding 613227 GO:0016021, GO:0005739, integral component of membrane, mitochondrion, GO:0005515, protein binding, GO:0097250, mitochondrial respirasome assembly, 0 0 3 2 0 0 0 0 0 ENSG00000214513 chr2 73202258 73212513 + NOTO protein_coding 344022 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902017, GO:0044458, GO:0030903, GO:0030182, GO:0009953, GO:0009880, GO:0007417, GO:0006357, GO:0001947, GO:0000122, regulation of cilium assembly, motile cilium assembly, notochord development, neuron differentiation, dorsal/ventral pattern formation, embryonic pattern specification, central nervous system development, regulation of transcription by RNA polymerase II, heart looping, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000214514 chr17 41626327 41640199 - KRT42P transcribed_unprocessed_pseudogene 284116 0 0 0 0 0 0 0 0 0 ENSG00000214517 chr11 74171099 74254703 + PPME1 protein_coding This gene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway through dephosphorylation of regulatory proteins. It plays a role in malignant glioma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. 51400 GO:0005654, nucleoplasm, GO:0051723, GO:0051722, GO:0051722, GO:0051721, GO:0045296, GO:0019903, GO:0019901, GO:0019888, GO:0005515, GO:0004864, protein methylesterase activity, protein C-terminal methylesterase activity, protein C-terminal methylesterase activity, protein phosphatase 2A binding, cadherin binding, protein phosphatase binding, protein kinase binding, protein phosphatase regulator activity, protein binding, protein phosphatase inhibitor activity, GO:0032515, GO:0006482, GO:0006482, GO:0000086, negative regulation of phosphoprotein phosphatase activity, protein demethylation, protein demethylation, G2/M transition of mitotic cell cycle, 97 104 154 131 128 96 112 136 101 ENSG00000214518 chr17 41054498 41055230 - KRTAP2-2 protein_coding 728279 0 0 0 0 0 0 0 0 0 ENSG00000214525 chr2 68528241 68529452 - AC130709.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214526 chr22 23322543 23322927 - AP000343.1 processed_pseudogene 1 0 0 0 4 0 0 0 0 ENSG00000214530 chr11 72754729 72793681 - STARD10 protein_coding 10809 GO:0046581, GO:0031514, GO:0016020, GO:0005902, GO:0005829, GO:0005829, GO:0005829, intercellular canaliculus, motile cilium, membrane, microvillus, cytosol, cytosol, cytosol, GO:0008289, GO:0005515, lipid binding, protein binding, GO:0035360, GO:0032782, GO:0006656, positive regulation of peroxisome proliferator activated receptor signaling pathway, bile acid secretion, phosphatidylcholine biosynthetic process, 355 463 557 164 352 334 253 317 227 ENSG00000214533 chr2 65666695 65667737 + KRT18P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214534 chr11 71814045 71821548 - ZNF705E protein_coding 100131539 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 10 8 1 1 ENSG00000214535 chr20 21166206 21166596 - RPS15AP1 processed_pseudogene 2 1 2 1 10 5 4 0 0 ENSG00000214541 chr20 56601701 56602113 + RPS4XP3 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000214544 chr7 73242751 73280119 - GTF2IRD2P1 transcribed_unprocessed_pseudogene 0 2 0 1 4 17 3 2 11 ENSG00000214546 chr17 39619613 39622513 + AC087491.1 lincRNA 0 1 4 0 0 0 2 0 0 ENSG00000214548 chr14 100779410 100861031 + MEG3 lincRNA This gene is a maternally expressed imprinted gene. Multiple alternatively spliced transcript variants have been transcribed from this gene and all of them are long non-coding RNAs (lncRNAs). This gene is expressed in many normal tissues, but its expression is lost in multiple cancer cell lines of various tissue origins. It inhibits tumor cell proliferation in vitro. It also interacts with the tumor suppressor p53, and regulates p53 target gene expression. Its deletion enhances angiogenesis in vivo. Many experimental evidences demonstrate that this gene is a lncRNA tumor suppressor. [provided by RefSeq, Mar 2012]. 55384 GO:0035195, GO:0030308, gene silencing by miRNA, negative regulation of cell growth, 0 0 1 5 0 0 7 0 3 ENSG00000214549 chr10 92118664 92119164 + SDHCP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214552 chr3 68145004 68145630 + COPS8P2 processed_pseudogene 1 0 4 1 3 0 6 2 0 ENSG00000214553 chr17 39027277 39053205 + LRRC37A11P transcribed_unprocessed_pseudogene 342666 0 0 0 2 0 0 0 0 0 ENSG00000214558 chr6 65302522 65304957 + AL365217.1 processed_pseudogene 15 6 20 12 10 7 9 8 10 ENSG00000214559 chr4 98251688 98261630 - AC019077.1 antisense 2 2 1 3 0 2 6 1 0 ENSG00000214560 chr3 66637149 66637412 + RPL21P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214561 chr6 58119741 58121029 - RBBP4P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214562 chr10 87357668 87370695 + NUTM2D protein_coding 728130 11 26 8 14 15 18 12 6 0 ENSG00000214563 chr6 57967687 57968661 - GAPDHP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214575 chr15 82543201 82648861 - CPEB1 protein_coding This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 64506 GO:1990124, GO:0048471, GO:0045202, GO:0043025, GO:0043005, GO:0030426, GO:0030425, GO:0016020, GO:0014069, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000932, messenger ribonucleoprotein complex, perinuclear region of cytoplasm, synapse, neuronal cell body, neuron projection, growth cone, dendrite, membrane, postsynaptic density, cytosol, centrosome, cytoplasm, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, P-body, GO:0046872, GO:0043022, GO:0035925, GO:0008135, GO:0005515, GO:0003730, GO:0000900, GO:0000900, metal ion binding, ribosome binding, mRNA 3'-UTR AU-rich region binding, translation factor activity, RNA binding, protein binding, mRNA 3'-UTR binding, translation repressor activity, mRNA regulatory element binding, translation repressor activity, mRNA regulatory element binding, GO:2000766, GO:2000766, GO:1900365, GO:0071456, GO:0071230, GO:0071222, GO:0051770, GO:0051028, GO:0045727, GO:0032869, GO:0030335, GO:0010976, GO:0008285, GO:0006412, GO:0006397, negative regulation of cytoplasmic translation, negative regulation of cytoplasmic translation, positive regulation of mRNA polyadenylation, cellular response to hypoxia, cellular response to amino acid stimulus, cellular response to lipopolysaccharide, positive regulation of nitric-oxide synthase biosynthetic process, mRNA transport, positive regulation of translation, cellular response to insulin stimulus, positive regulation of cell migration, positive regulation of neuron projection development, negative regulation of cell population proliferation, translation, mRNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000214578 chr17 42753530 42753799 - HMGN2P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214581 chr16 35446898 35449411 - ZNF971P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214584 chr10 79892148 79893175 - PGGT1BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214593 chr9 125263845 125264090 - AL354710.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000214595 chr2 54723499 54972025 + EML6 protein_coding 400954 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0008017, microtubule binding, 2 25 10 5 22 25 29 6 29 ENSG00000214602 chr2 48915267 48916530 - CTBP2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214604 chr6 55939790 55940624 - NPM1P36 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000214607 chr8 17469518 17471618 + ADAM24P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214612 chr20 18504633 18505066 + RPS19P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214614 chr16 32885194 32888874 + AC142086.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000214617 chr16 32877469 32885501 - SLC6A10P transcribed_unprocessed_pseudogene 386757 0 0 0 0 0 0 0 0 0 ENSG00000214626 chr10 74654956 74656131 + POLR3DP1 processed_pseudogene 1 0 0 3 8 2 1 3 0 ENSG00000214628 chrX 96953630 96954195 - NDUFB5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214629 chr10 74371535 74372416 + RPSAP6 processed_pseudogene 1 0 1 0 1 0 0 6 3 ENSG00000214641 chr6 51537155 51537543 - AL445529.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214642 chr6 49968677 49969625 - DEFB113 protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]. 245927 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000214643 chr6 49946021 49950265 - DEFB133 protein_coding 403339 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000214646 chr15 77941442 77944582 - AC104758.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214650 chr12 124513222 124514813 + AC073592.1 lincRNA 1 0 0 7 1 0 0 1 0 ENSG00000214651 chr9 121238117 121240089 - AL513122.1 processed_pseudogene 2 0 0 0 0 0 3 0 0 ENSG00000214652 chr7 64045443 64078549 + ZNF727 protein_coding 442319 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000214653 chrX 140032344 140033480 + HNRNPA3P3 processed_pseudogene 4 3 2 0 1 0 5 1 0 ENSG00000214654 chr9 120792403 120799918 + B3GNT10 protein_coding 43 36 50 15 41 43 28 28 27 ENSG00000214655 chr10 73785582 73801797 + ZSWIM8 protein_coding 23053 GO:0031462, Cul2-RING ubiquitin ligase complex, GO:0008270, zinc ion binding, GO:1902667, regulation of axon guidance, 1883 2247 1908 2809 2982 2788 3128 2376 2339 ENSG00000214657 chr2 15869939 15870243 + AC113608.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214659 chr11 65726939 65728214 + KRT8P26 processed_pseudogene 4 17 9 2 23 4 14 16 7 ENSG00000214660 chr7 63556598 63562588 + SLC29A4P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214668 chr7 57014285 57020273 - SLC29A4P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214669 chr9 113758994 113759419 - AL157702.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214671 chr4 169166272 169167117 + RPL6P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214676 chr4 168755816 168756382 + RPL9P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214681 chr3 51873721 51875584 - IQCF5 protein_coding 389124 GO:0005516, calmodulin binding, 0 0 0 0 0 0 0 0 0 ENSG00000214684 chr7 117439982 117440780 - AC003045.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214686 chr3 51778561 51779241 - IQCF6 protein_coding 440956 GO:0005516, calmodulin binding, 0 0 0 0 0 0 0 0 0 ENSG00000214688 chr10 71711702 71737824 - C10orf105 protein_coding 414152 GO:0016021, integral component of membrane, 381 600 630 420 776 651 536 611 523 ENSG00000214691 chr2 41876763 41894046 + LINC01913 lincRNA 388942 0 0 0 0 0 0 0 0 0 ENSG00000214694 chr2 38889841 38975449 + ARHGEF33 protein_coding 100271715 GO:0005085, guanyl-nucleotide exchange factor activity, 1 0 2 0 0 1 2 1 1 ENSG00000214695 chr10 79860573 79861806 + NPAP1P2 processed_pseudogene 0 0 0 4 0 0 0 0 3 ENSG00000214700 chr12 27081058 27082514 - C12orf71 protein_coding 728858 5 1 1 1 2 4 3 1 0 ENSG00000214702 chr15 74097106 74098414 - AC010931.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214706 chr3 50287732 50292918 - IFRD2 protein_coding 7866 GO:0005634, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, 14 10 18 38 26 29 43 20 12 ENSG00000214708 chr17 32141226 32143135 - AC116407.1 antisense 105371730 46 39 55 9 22 47 12 22 25 ENSG00000214711 chr2 31173056 31233858 - CAPN14 protein_coding Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]. 440854 GO:0005737, cytoplasm, GO:0005509, GO:0004198, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 1 0 2 3 1 0 ENSG00000214717 chrX 2486414 2500967 - ZBED1 protein_coding This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene product is localized in the nucleus and functions as a transcription factor. It binds to DNA elements found in the promoter regions of several genes related to cell proliferation, such as histone H1, hence may have a role in regulating genes related to cell proliferation. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene. [provided by RefSeq, Jan 2010]. 9189 GO:0031965, GO:0016605, GO:0005813, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear membrane, PML body, centrosome, nucleoplasm, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0061665, GO:0046983, GO:0046872, GO:0043565, GO:0042802, GO:0019789, GO:0005515, GO:0003713, GO:0003713, GO:0003712, GO:0001228, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, SUMO ligase activity, protein dimerization activity, metal ion binding, sequence-specific DNA binding, identical protein binding, SUMO transferase activity, protein binding, transcription coactivator activity, transcription coactivator activity, transcription coregulator activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1990466, GO:0045944, GO:0044828, GO:0016032, GO:0006357, GO:0006355, protein autosumoylation, positive regulation of transcription by RNA polymerase II, negative regulation by host of viral genome replication, viral process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000214719 chr17 30576464 30672789 + SMURF2P1-LRRC37BP1 processed_transcript 1 1 0 2 0 3 1 3 2 ENSG00000214720 chrX 107428630 107429461 + KRT18P49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214725 chr16 29863593 29868053 + CDIPTOSP transcribed_unitary_pseudogene 440356 0 1 1 1 5 0 0 0 0 ENSG00000214727 chr22 49757627 49758980 - RPL5P35 unprocessed_pseudogene 0 0 0 0 0 4 0 2 0 ENSG00000214732 chr6 42155426 42163439 + AL096814.1 protein_coding 114841037 0 0 0 0 0 0 0 0 0 ENSG00000214736 chr6 41787662 41789898 + TOMM6 protein_coding 100188893 GO:0005742, GO:0005741, GO:0005739, GO:0005739, mitochondrial outer membrane translocase complex, mitochondrial outer membrane, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0016236, GO:0015031, macroautophagy, protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000214743 chr5 127143082 127143247 - MRPS5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214745 chrX 55961208 55962482 + AL391419.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214748 chrX 137324972 137325049 - AL355309.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214753 chr11 62712630 62727472 - HNRNPUL2 protein_coding 221092 GO:0016020, GO:0005654, GO:0005654, GO:0005634, membrane, nucleoplasm, nucleoplasm, nucleus, GO:0003723, GO:0003723, RNA binding, RNA binding, GO:0008150, biological_process, 309 284 281 155 157 193 119 183 149 ENSG00000214754 chr7 47052793 47053674 + AC004870.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214756 chr11 62665309 62668496 + CSKMT protein_coding 751071 GO:0005739, mitochondrion, GO:0016279, GO:0016278, GO:0005515, protein-lysine N-methyltransferase activity, lysine N-methyltransferase activity, protein binding, GO:0018027, GO:0018026, GO:0018023, GO:0006479, peptidyl-lysine dimethylation, peptidyl-lysine monomethylation, peptidyl-lysine trimethylation, protein methylation, 3 6 2 52 30 108 54 23 45 ENSG00000214759 chr14 65268829 65269098 + AL355076.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214760 chr12 122364782 122365632 + RPL21P1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000214761 chr9 125595669 125596628 + HNRNPA1P15 processed_pseudogene 0 0 0 2 0 0 0 0 2 ENSG00000214765 chr7 45723780 45768985 - SEPT7P2 transcribed_unprocessed_pseudogene 54 50 54 75 107 66 75 71 75 ENSG00000214770 chr14 64329431 64338639 - AL161756.1 antisense 0 0 0 2 0 2 0 0 0 ENSG00000214772 chr12 14665655 14757963 + AC010168.1 antisense 3 2 2 3 2 1 2 2 0 ENSG00000214773 chr3 47601715 47604677 - AC112512.1 sense_intronic 4 4 3 2 1 3 7 1 4 ENSG00000214776 chr12 9480608 9576275 + AC092821.1 transcribed_unprocessed_pseudogene 2 9 0 1 2 0 7 0 0 ENSG00000214782 chr11 60729304 60744212 + MS4A18 protein_coding 728588 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000214783 chr7 43940895 44019175 - POLR2J4 processed_transcript 84820 20 30 15 49 47 41 35 26 14 ENSG00000214784 chr5 111192226 111193042 - AC010468.1 processed_pseudogene 0 0 0 2 0 1 6 1 5 ENSG00000214787 chr11 60201253 60243088 - MS4A4E protein_coding Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]. 643680 GO:0016021, integral component of membrane, 0 5 6 6 8 2 0 1 3 ENSG00000214788 chr11 59942879 59970146 + OOSP1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000214794 chr5 109588338 109589592 + KRT18P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214796 chr1 202851828 202861620 - AC098934.1 transcribed_unprocessed_pseudogene 0 0 0 1 1 1 0 2 0 ENSG00000214797 chr11 59268876 59284033 - AP002358.1 lincRNA 8 10 21 4 11 23 0 5 7 ENSG00000214803 chr8 124192671 124247398 - AC090921.1 lincRNA 101927588 2 0 2 0 2 0 0 6 0 ENSG00000214807 chr10 124867510 124868326 + NPM1P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214810 chr6 34219439 34220066 + CYCSP55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214812 chr1 28120449 28121321 - AL137792.1 processed_pseudogene 23 29 63 8 13 22 6 7 17 ENSG00000214814 chr8 123851987 124120061 + FER1L6 protein_coding 654463 GO:0016021, integral component of membrane, GO:0046872, metal ion binding, GO:0009617, GO:0007009, response to bacterium, plasma membrane organization, 3 3 0 0 3 0 0 0 2 ENSG00000214815 chr7 138440690 138442238 + IMPDH1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214819 chr17 20579724 20580911 + CDRT15L2 protein_coding 256223 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000214820 chr3 44579938 44581026 - MPRIPP1 processed_pseudogene 0 1 1 1 0 0 1 0 0 ENSG00000214821 chr2 170601662 170602228 - HMGB1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214822 chr17 20501513 20512357 - KRT16P3 transcribed_unprocessed_pseudogene 644945 0 0 0 0 0 0 0 0 0 ENSG00000214823 chr13 39169636 39169951 - NXT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214825 chr3 44524744 44525805 - EI24P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214826 chr12 9418673 9448229 - DDX12P unprocessed_pseudogene 10 15 10 30 18 34 18 7 10 ENSG00000214827 chrX 155061622 155147937 - MTCP1 protein_coding This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009]. 4515 GO:0032991, protein-containing complex, GO:0043539, GO:0043539, GO:0019901, protein serine/threonine kinase activator activity, protein serine/threonine kinase activator activity, protein kinase binding, GO:0071902, GO:0033138, GO:0033138, positive regulation of protein serine/threonine kinase activity, positive regulation of peptidyl-serine phosphorylation, positive regulation of peptidyl-serine phosphorylation, 5 7 11 3 14 6 11 6 5 ENSG00000214832 chr17 20375369 20376840 - UPF3AP2 transcribed_processed_pseudogene 1 1 0 1 0 4 0 1 3 ENSG00000214835 chr20 10349157 10349628 - RPL23AP6 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000214837 chr1 243056307 243101744 - LINC01347 transcribed_unprocessed_pseudogene 731275 5 5 4 2 3 2 4 8 0 ENSG00000214842 chr2 17510584 17518439 - RAD51AP2 protein_coding 729475 GO:0032991, GO:0000785, protein-containing complex, chromatin, GO:0005515, GO:0003697, GO:0003690, protein binding, single-stranded DNA binding, double-stranded DNA binding, GO:0036297, GO:0008150, GO:0000724, interstrand cross-link repair, biological_process, double-strand break repair via homologous recombination, 0 0 0 0 0 0 0 0 0 ENSG00000214843 chr2 17284292 17284895 + ZFYVE9P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214846 chr4 15730962 15731627 - AC114744.1 processed_pseudogene 87 57 149 28 52 33 44 32 44 ENSG00000214851 chr12 9055586 9065070 - LINC00612 processed_transcript 253128 0 4 3 3 1 11 24 2 11 ENSG00000214853 chr5 84999812 85000315 - PPIAP79 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214855 chr19 44926804 44931386 + APOC1P1 transcribed_unprocessed_pseudogene 342 0 0 0 0 0 0 0 0 0 ENSG00000214856 chr17 18432051 18442895 + KRT16P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214857 chr5 81892490 81892721 + SEM1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214860 chr17 18377662 18389647 + EVPLL protein_coding 645027 GO:0016020, GO:0005882, GO:0005737, GO:0001533, membrane, intermediate filament, cytoplasm, cornified envelope, GO:0019215, GO:0005198, intermediate filament binding, structural molecule activity, GO:0045104, GO:0042060, GO:0008544, intermediate filament cytoskeleton organization, wound healing, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000214866 chr2 3703592 3847411 + DCDC2C protein_coding 728597 GO:0036126, GO:0030864, GO:0005874, GO:0005815, GO:0005737, sperm flagellum, cortical actin cytoskeleton, microtubule, microtubule organizing center, cytoplasm, GO:0035556, intracellular signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000214867 chr21 36295173 36295702 - SRSF9P1 processed_pseudogene 1 0 2 1 5 0 0 0 0 ENSG00000214869 chr7 27023737 27024907 + TPM3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214870 chr7 26398593 26494256 + AC004540.1 lincRNA 0 0 2 3 5 0 6 1 0 ENSG00000214872 chr11 57542641 57550274 + SMTNL1 protein_coding The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016]. 219537 GO:0043292, GO:0031941, GO:0031674, GO:0031430, GO:0005815, GO:0005737, GO:0005634, contractile fiber, filamentous actin, I band, M band, microtubule organizing center, cytoplasm, nucleus, GO:0097718, GO:0051401, GO:0043621, GO:0008157, GO:0005523, GO:0005516, disordered domain specific binding, CH domain binding, protein self-association, protein phosphatase 1 binding, tropomyosin binding, calmodulin binding, GO:0097756, GO:0048644, GO:0045907, GO:0045907, GO:0045892, GO:0042493, GO:0030036, GO:0018105, GO:0014823, negative regulation of blood vessel diameter, muscle organ morphogenesis, positive regulation of vasoconstriction, positive regulation of vasoconstriction, negative regulation of transcription, DNA-templated, response to drug, actin cytoskeleton organization, peptidyl-serine phosphorylation, response to activity, 31 46 40 33 84 82 47 53 60 ENSG00000214875 chr10 68991137 68991707 + MED28P1 processed_pseudogene 1 0 4 2 1 0 0 0 0 ENSG00000214878 chr13 51161723 51162357 - RPL5P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214880 chr11 55979398 55980103 - OR7E5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214881 chr10 68544489 68544833 - TMEM14DP processed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000214883 chr11 50409042 50422316 + AC024405.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214886 chr4 98955982 98956767 + FAM177A1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214888 chr9 87857015 87859599 - AL772337.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214889 chr21 36132450 36133032 + RPS9P1 processed_pseudogene 1 1 0 1 1 0 1 1 0 ENSG00000214890 chr5 79000112 79001124 - AC020937.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214891 chr11 49053714 49059112 - TRIM64C protein_coding 646754 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000214892 chr6 31275572 31278754 + USP8P1 processed_pseudogene 1 0 1 0 0 0 0 0 0 ENSG00000214894 chr6 30798654 30830659 - LINC00243 lincRNA 401247 1 0 0 1 0 0 7 0 0 ENSG00000214896 chr15 52885595 52886470 + RPSAP55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214897 chrX 153395640 153401420 - PNMA6E protein_coding 649238 0 0 0 0 1 0 0 0 0 ENSG00000214900 chr14 49927571 50092643 - LINC01588 lincRNA 283551 28 20 24 55 23 40 75 20 31 ENSG00000214903 chr14 47444106 47444494 - RPS15AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214904 chr4 98048555 98049043 + DUTP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214908 chr9 86374966 86375706 - AL353678.1 processed_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000214914 chr21 36016079 36016546 - RPL23AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214915 chrX 151515551 151516245 + BX546450.1 lincRNA 105377213 0 0 0 0 0 0 0 0 0 ENSG00000214917 chr18 32075885 32076272 - AC011825.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214919 chr3 155742142 155743726 - AC104472.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000214922 chr6 29726601 29749049 - HLA-F-AS1 processed_transcript 285830 0 2 0 2 2 5 3 1 0 ENSG00000214925 chrX 141138478 141139174 + AC234778.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214929 chr9 81988772 81995256 + SPATA31D1 protein_coding 389763 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000214930 chrX 138487665 138488871 - KRT8P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214940 chr16 18317942 18336736 - NPIPA8 protein_coding 101059953 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, 1 0 0 0 0 0 0 0 0 ENSG00000214941 chr17 15976560 15999717 - ZSWIM7 protein_coding 125150 GO:0097196, GO:0097196, GO:0005634, Shu complex, Shu complex, nucleus, GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0050821, GO:0000724, GO:0000724, protein stabilization, double-strand break repair via homologous recombination, double-strand break repair via homologous recombination, 20 18 16 54 27 51 26 15 19 ENSG00000214942 chr5 89900664 89904908 + AC008448.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000214943 chr14 31482875 31488142 - GPR33 protein_coding This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010]. 2856 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, GO:0004875, G protein-coupled receptor activity, complement receptor activity, GO:0007204, GO:0007200, GO:0006954, GO:0002430, positive regulation of cytosolic calcium ion concentration, phospholipase C-activating G protein-coupled receptor signaling pathway, inflammatory response, complement receptor mediated signaling pathway, 0 0 2 0 0 0 0 0 0 ENSG00000214944 chr5 73626158 73941993 + ARHGEF28 protein_coding This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]. 64283 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0046872, GO:0005085, GO:0005085, GO:0003723, metal ion binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, RNA binding, GO:0048013, GO:0035556, GO:0035023, GO:0030154, GO:0000902, ephrin receptor signaling pathway, intracellular signal transduction, regulation of Rho protein signal transduction, cell differentiation, cell morphogenesis, 0 1 2 1 0 0 0 1 1 ENSG00000214946 chr17 15732247 15749192 + TBC1D26 protein_coding 353149 GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000214954 chr8 91101832 91219236 + LRRC69 protein_coding 100130742 GO:0007165, signal transduction, 2 0 3 5 0 7 8 1 0 ENSG00000214955 chr21 34205055 34325034 + AP000317.1 lincRNA 2 1 0 1 0 4 0 0 0 ENSG00000214960 chr7 16087527 16421322 - ISPD protein_coding This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]. 729920 GO:0005829, GO:0005829, cytosol, cytosol, GO:0070567, GO:0070567, GO:0047349, GO:0047349, GO:0042803, cytidylyltransferase activity, cytidylyltransferase activity, D-ribitol-5-phosphate cytidylyltransferase activity, D-ribitol-5-phosphate cytidylyltransferase activity, protein homodimerization activity, GO:0035269, GO:0035269, GO:0008299, GO:0007411, protein O-linked mannosylation, protein O-linked mannosylation, isoprenoid biosynthetic process, axon guidance, 0 3 1 0 1 5 4 0 9 ENSG00000214961 chrX 134272287 134273658 + FO393409.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000214967 chr16 16379055 16393954 + NPIPA7 protein_coding 101059938 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, GO:0005515, protein binding, 4 0 0 0 0 5 2 0 2 ENSG00000214970 chr17 10579040 10623036 + AC005323.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000214973 chr1 27200834 27201473 - CHCHD3P3 processed_pseudogene 0 0 3 0 0 0 1 1 0 ENSG00000214975 chr6 24976419 24976982 + PPIAP29 processed_pseudogene 23 19 28 5 10 16 1 8 21 ENSG00000214976 chr21 16094415 16095372 - VDAC2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214978 chr17 9802386 9822071 - GSG1L2 protein_coding 644070 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000214980 chr4 84244003 84245488 + AC025538.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214988 chr4 82490823 82491635 - RPL7AP26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000214992 chrX 119249346 119257667 - AKAP17BP unprocessed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000214998 chr7 7909300 7910449 - CCNB2P1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000214999 chr17 8079482 8081565 + AC129492.1 antisense 107985075 1 0 5 0 1 4 1 0 3 ENSG00000215000 chrX 109341813 109342697 + AL034403.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215002 chr10 106550106 106551121 + RPL23AP59 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215003 chr16 15931697 15932294 - RPL15P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215004 chr3 29087396 29088599 + MESTP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215005 chr21 28887280 28889272 - HSPD1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215006 chr5 69333929 69334249 + CHCHD2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215007 chrX 107351650 107352843 - DNAJA1P3 processed_pseudogene 0 0 1 0 0 1 0 1 2 ENSG00000215009 chr12 7304284 7328724 + ACSM4 protein_coding 341392 GO:0005759, mitochondrial matrix, GO:0102391, GO:0047760, GO:0046872, GO:0015645, GO:0015645, GO:0005524, GO:0004321, GO:0003996, decanoate-CoA ligase activity, butyrate-CoA ligase activity, metal ion binding, fatty acid ligase activity, fatty acid ligase activity, ATP binding, fatty-acyl-CoA synthase activity, acyl-CoA ligase activity, GO:0006637, GO:0006633, acyl-CoA metabolic process, fatty acid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000215012 chr22 19846138 19854896 - RTL10 protein_coding 79680 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0097345, GO:0051881, mitochondrial outer membrane permeabilization, regulation of mitochondrial membrane potential, 29 28 56 24 31 35 31 30 21 ENSG00000215014 chr1 1574102 1577075 + AL645728.1 processed_transcript 15 6 6 12 23 33 28 22 20 ENSG00000215016 chr3 23134372 23134824 + RPL24P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215018 chr7 7356203 7535853 - COL28A1 protein_coding COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]. 340267 GO:0062023, GO:0031012, GO:0005788, GO:0005615, GO:0005604, GO:0005581, GO:0005576, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, basement membrane, collagen trimer, extracellular region, GO:0030020, GO:0005201, GO:0004867, extracellular matrix structural constituent conferring tensile strength, extracellular matrix structural constituent, serine-type endopeptidase inhibitor activity, GO:0030198, GO:0010951, GO:0007155, extracellular matrix organization, negative regulation of endopeptidase activity, cell adhesion, 0 1 0 3 0 0 0 0 3 ENSG00000215021 chr12 6965327 6970825 - PHB2 protein_coding 11331 GO:0098982, GO:0098978, GO:0071944, GO:0048786, GO:0035632, GO:0032991, GO:0030424, GO:0016363, GO:0014069, GO:0009986, GO:0005886, GO:0005743, GO:0005743, GO:0005743, GO:0005741, GO:0005739, GO:0005739, GO:0005737, GO:0005634, GO:0005634, GO:0005634, GABA-ergic synapse, glutamatergic synapse, cell periphery, presynaptic active zone, mitochondrial prohibitin complex, protein-containing complex, axon, nuclear matrix, postsynaptic density, cell surface, plasma membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrial outer membrane, mitochondrion, mitochondrion, cytoplasm, nucleus, nucleus, nucleus, GO:0047485, GO:0046982, GO:0046625, GO:0042803, GO:0042802, GO:0033218, GO:0030331, GO:0008022, GO:0005515, protein N-terminus binding, protein heterodimerization activity, sphingolipid binding, protein homodimerization activity, identical protein binding, amide binding, estrogen receptor binding, protein C-terminus binding, protein binding, GO:1990051, GO:1904959, GO:1902808, GO:1901224, GO:1900208, GO:0140374, GO:0071456, GO:0071300, GO:0070374, GO:0060762, GO:0060749, GO:0060744, GO:0051091, GO:0050821, GO:0045892, GO:0043433, GO:0043066, GO:0042113, GO:0039529, GO:0039520, GO:0033600, GO:0033147, GO:0031536, GO:0030449, GO:0023035, GO:0016477, GO:0009611, GO:0007202, GO:0007062, GO:0007005, GO:0006851, GO:0006606, GO:0002377, GO:0000423, GO:0000187, activation of protein kinase C activity, regulation of cytochrome-c oxidase activity, positive regulation of cell cycle G1/S phase transition, positive regulation of NIK/NF-kappaB signaling, regulation of cardiolipin metabolic process, antiviral innate immune response, cellular response to hypoxia, cellular response to retinoic acid, positive regulation of ERK1 and ERK2 cascade, regulation of branching involved in mammary gland duct morphogenesis, mammary gland alveolus development, mammary gland branching involved in thelarche, positive regulation of DNA-binding transcription factor activity, protein stabilization, negative regulation of transcription, DNA-templated, negative regulation of DNA-binding transcription factor activity, negative regulation of apoptotic process, B cell activation, RIG-I signaling pathway, induction by virus of host autophagy, negative regulation of mammary gland epithelial cell proliferation, negative regulation of intracellular estrogen receptor signaling pathway, positive regulation of exit from mitosis, regulation of complement activation, CD40 signaling pathway, cell migration, response to wounding, activation of phospholipase C activity, sister chromatid cohesion, mitochondrion organization, mitochondrial calcium ion transmembrane transport, protein import into nucleus, immunoglobulin production, mitophagy, activation of MAPK activity, 189 176 227 326 259 266 264 211 215 ENSG00000215022 chr6 13264861 13295586 - AL008729.1 antisense 100130357 379 735 585 2365 2902 3581 4090 2962 3755 ENSG00000215023 chr2 241800916 241801907 - AC131097.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000215029 chrX 102456862 102471842 - TCP11X2 protein_coding 100996648 0 0 0 0 0 0 0 0 0 ENSG00000215030 chr17 17383377 17384012 - RPL13P12 processed_pseudogene 47 32 73 117 64 199 98 55 109 ENSG00000215032 chr5 60891935 60893577 - GNL3LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215034 chr3 39214199 39214672 + DSTNP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215035 chrX 44476027 44477422 - FDPSP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215037 chr13 83907301 83907781 - VENTXP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215039 chr12 6439001 6451567 - CD27-AS1 processed_transcript 678655 53 70 60 77 92 117 106 88 108 ENSG00000215041 chr17 7315628 7329393 - NEURL4 protein_coding The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]. 84461 GO:0005814, GO:0005737, centriole, cytoplasm, GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0016567, protein ubiquitination, 139 138 115 171 204 156 178 136 102 ENSG00000215043 chr2 194129354 194130266 - GLULP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215045 chr7 6497462 6551436 - GRID2IP protein_coding Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]. 392862 GO:0045211, postsynaptic membrane, GO:0060292, long-term synaptic depression, 3 6 5 0 4 4 2 5 11 ENSG00000215049 chr13 30296147 30296735 + PRDX2P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000215054 chrX 144840777 144841660 + HNRNPCP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215057 chr6 5972412 5974012 + PKMP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215063 chr20 4059633 4060113 - RPL21P2 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000215065 chr10 47564256 47566016 + DUSP8P4 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000215067 chr17 6876635 7012349 - ALOX12-AS1 antisense 100506713 145 134 198 273 372 466 403 305 376 ENSG00000215068 chr5 43041575 43045390 + AC025171.2 antisense 153684 15 15 32 16 22 63 18 23 34 ENSG00000215070 chrX 99719364 99721158 - XRCC6P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215085 chrX 95584303 95584942 + AL365400.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215086 chr10 72917641 72918534 - NPM1P24 processed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000215088 chr21 33481580 33482195 - RPS5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215089 chrX 92459670 92460952 + KRT18P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215093 chrX 86160264 86161359 - EEF1A1P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215094 chr6 149951833 149952239 + AL583835.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215096 chr8 63409064 63409457 + IFITM8P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215097 chr10 46774421 46776180 - DUSP8P3 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000215102 chrX 83748825 83749939 - TERF1P4 processed_pseudogene 0 1 2 0 0 0 1 0 0 ENSG00000215105 chrX 75740831 75746911 - TTC3P1 processed_pseudogene 2 6 7 6 6 10 4 10 6 ENSG00000215110 chr4 69389492 69402081 + UGT2B25P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215112 chr9 39371065 39376916 + FAM74A1 lincRNA 401507 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000215113 chrX 71763424 71767204 + CXorf49B protein_coding 100132994 0 0 0 0 0 0 0 0 0 ENSG00000215114 chr8 58411264 58451501 + UBXN2B protein_coding 137886 GO:0031616, GO:0005829, GO:0005794, GO:0005783, GO:0005634, spindle pole centrosome, cytosol, Golgi apparatus, endoplasmic reticulum, nucleus, GO:0043130, GO:0005515, ubiquitin binding, protein binding, GO:1904780, GO:0061025, GO:0046604, GO:0043161, GO:0031468, GO:0007030, GO:0000132, GO:0000045, negative regulation of protein localization to centrosome, membrane fusion, positive regulation of mitotic centrosome separation, proteasome-mediated ubiquitin-dependent protein catabolic process, nuclear envelope reassembly, Golgi organization, establishment of mitotic spindle orientation, autophagosome assembly, 2337 2007 2901 471 1147 761 618 929 804 ENSG00000215115 chrX 71714371 71718151 - CXorf49 protein_coding 100130361 0 0 0 0 0 0 0 0 0 ENSG00000215117 chr8 57279543 57284731 + LINC00588 lincRNA 26138 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000215120 chrX 71527814 71530225 - AL590763.1 processed_pseudogene 5 0 1 3 4 4 0 0 0 ENSG00000215124 chr6 11861626 11862970 - AMD1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215126 chr9 41131306 41199261 - CBWD6 protein_coding 644019 GO:0005737, cytoplasm, GO:0005524, ATP binding, 104 90 270 165 120 453 236 85 333 ENSG00000215127 chr4 68061822 68063269 - SYT14P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215131 chr16 3493484 3495480 - C16orf90 protein_coding 646174 0 0 0 0 2 0 0 4 0 ENSG00000215146 chr10 42331866 42367974 - BX322639.1 transcribed_unprocessed_pseudogene 441666 0 0 2 0 0 2 0 0 2 ENSG00000215148 chr16 2798485 2805302 + PRSS41 protein_coding 360226 GO:0043229, GO:0031225, GO:0005886, GO:0005886, GO:0005576, intracellular organelle, anchored component of membrane, plasma membrane, plasma membrane, extracellular region, GO:0017080, GO:0004252, sodium channel regulator activity, serine-type endopeptidase activity, GO:0006508, proteolysis, 2 1 11 0 1 0 0 0 0 ENSG00000215149 chr1 238491358 238492644 + KRT18P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215151 chr10 38601418 38605609 + ABCD1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215154 chr16 2603350 2630494 + AC141586.1 transcribed_unprocessed_pseudogene 652276 18 13 15 19 25 27 17 11 11 ENSG00000215156 chr5 34190056 34193653 + AC138409.1 processed_pseudogene 1 0 0 0 1 3 1 0 15 ENSG00000215158 chr5 34164698 34244796 - AC138409.2 transcribed_unprocessed_pseudogene 22 11 34 44 21 25 31 20 30 ENSG00000215159 chr12 64759521 64779318 + AC025262.1 antisense 0 0 2 0 0 0 0 0 0 ENSG00000215160 chr3 8682943 8693701 + OR7E122P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215162 chrX 69179557 69209924 + LINC00269 lincRNA 100996279 0 0 0 0 0 0 0 0 0 ENSG00000215165 chr9 38478471 38479350 + TCEA1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215168 chrX 66055587 66056587 - AL139276.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215174 chrX 57677067 57680260 - NLRP2B protein_coding 286430 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:1900226, GO:0045786, GO:0045087, GO:0043065, GO:0034122, GO:0033137, GO:0032691, GO:0032088, GO:0010804, negative regulation of NLRP3 inflammasome complex assembly, negative regulation of cell cycle, innate immune response, positive regulation of apoptotic process, negative regulation of toll-like receptor signaling pathway, negative regulation of peptidyl-serine phosphorylation, negative regulation of interleukin-1 beta production, negative regulation of NF-kappaB transcription factor activity, negative regulation of tumor necrosis factor-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000215177 chr8 47202444 47202897 - IGLV8OR8-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215179 chr8 46972476 46974617 - MAPK6P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215182 chr11 1157953 1201138 + MUC5AC protein_coding 4586 GO:0070701, GO:0070062, GO:0031012, GO:0005886, GO:0005796, GO:0005737, GO:0005615, GO:0005615, mucus layer, extracellular exosome, extracellular matrix, plasma membrane, Golgi lumen, cytoplasm, extracellular space, extracellular space, GO:0005201, extracellular matrix structural constituent, GO:0048015, GO:0016266, GO:0002223, phosphatidylinositol-mediated signaling, O-glycan processing, stimulatory C-type lectin receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000215183 chr9 35752990 35756613 - MSMP protein_coding This gene encodes a member of the beta-microseminoprotein family. Members of this protein family contain ten conserved cysteine residues that form intra-molecular disulfide bonds. The encoded protein may play a role in prostate cancer tumorigenesis. [provided by RefSeq, Jan 2011]. 692094 GO:0005737, GO:0005737, GO:0005615, GO:0005615, cytoplasm, cytoplasm, extracellular space, extracellular space, GO:0031727, GO:0005125, GO:0003674, CCR2 chemokine receptor binding, cytokine activity, molecular_function, GO:0048247, GO:0007165, GO:0006954, GO:0002548, lymphocyte chemotaxis, signal transduction, inflammatory response, monocyte chemotaxis, 99 109 143 62 129 89 76 96 66 ENSG00000215184 chr10 34675635 34676041 - RPS12P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215186 chr15 72654738 72666394 + GOLGA6B protein_coding This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008]. 55889 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 1 0 0 0 0 0 0 0 ENSG00000215187 chr9 35561831 35563899 - FAM166B protein_coding 730112 0 0 0 0 0 0 0 0 0 ENSG00000215190 chr6 57946074 57961501 - LINC00680 transcribed_unprocessed_pseudogene 728411 10 10 10 13 2 12 9 9 6 ENSG00000215193 chr22 18077920 18131138 + PEX26 protein_coding This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]. 55670 GO:0005779, GO:0005778, GO:0005777, GO:0005777, integral component of peroxisomal membrane, peroxisomal membrane, peroxisome, peroxisome, GO:0051117, GO:0051117, GO:0044877, GO:0008022, GO:0005515, ATPase binding, ATPase binding, protein-containing complex binding, protein C-terminus binding, protein binding, GO:0045046, GO:0016558, GO:0016558, GO:0016558, GO:0006625, protein import into peroxisome membrane, protein import into peroxisome matrix, protein import into peroxisome matrix, protein import into peroxisome matrix, protein targeting to peroxisome, 95 84 121 97 79 114 127 59 101 ENSG00000215196 chr5 17130028 17217047 - BASP1-AS1 antisense 28 16 21 12 27 21 30 25 15 ENSG00000215197 chrX 54671985 54672638 + PGAM4P1 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000215198 chr9 35147410 35149184 - AL353795.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215199 chr9 34922184 34922921 - YWHAZP6 processed_pseudogene 0 0 0 0 1 0 0 0 1 ENSG00000215203 chr4 42893267 43030658 + GRXCR1 protein_coding This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]. 389207 GO:0060091, GO:0060091, GO:0032420, GO:0032420, GO:0005902, kinocilium, kinocilium, stereocilium, stereocilium, microvillus, GO:0015035, GO:0009055, GO:0005515, GO:0003674, protein disulfide oxidoreductase activity, electron transfer activity, protein binding, molecular_function, GO:0060122, GO:0060122, GO:0060119, GO:0060118, GO:0022900, GO:0010923, GO:0007605, inner ear receptor cell stereocilium organization, inner ear receptor cell stereocilium organization, inner ear receptor cell development, vestibular receptor cell development, electron transport chain, negative regulation of phosphatase activity, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000215206 chr9 33649047 33649614 + TRBV24OR9-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215208 chr12 65418731 65420027 - KRT18P60 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215210 chr9 30689105 30690272 + RBMXP2 processed_pseudogene 2 0 0 2 1 0 1 1 0 ENSG00000215217 chr5 7830378 7851490 - C5orf49 protein_coding 134121 GO:0036064, ciliary basal body, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000215218 chr5 6448623 6494909 + UBE2QL1 protein_coding 134111 GO:0005886, GO:0005654, GO:0005634, GO:0005634, plasma membrane, nucleoplasm, nucleus, nucleus, GO:0061631, GO:0061631, GO:0005524, GO:0005515, ubiquitin conjugating enzyme activity, ubiquitin conjugating enzyme activity, ATP binding, protein binding, GO:0000209, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000215221 chr9 22012155 22012536 + UBA52P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215223 chr6 148478693 148480763 + CYP51A1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215227 chr10 13870797 13871175 + NUTF2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215231 chr5 5034359 5070004 + LINC01020 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000215236 chr9 15361393 15362134 + RPL7P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215237 chr9 14993312 15019729 + AL592293.1 unprocessed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000215241 chr12 8235415 8242564 + LINC02449 lincRNA 101927905 2 0 5 3 0 0 0 0 2 ENSG00000215244 chr10 6277687 6335982 + AL137145.2 lincRNA 399715 156 96 171 138 176 109 168 102 97 ENSG00000215246 chr5 987180 997308 - AC116351.1 antisense 100506688 0 0 0 0 0 0 0 0 0 ENSG00000215251 chr20 3146519 3159897 - FASTKD5 protein_coding 60493 GO:0042645, GO:0035770, GO:0005739, mitochondrial nucleoid, ribonucleoprotein granule, mitochondrion, GO:0019843, GO:0005515, GO:0003723, rRNA binding, protein binding, RNA binding, GO:0044528, GO:0006397, GO:0000963, regulation of mitochondrial mRNA stability, mRNA processing, mitochondrial RNA processing, 184 178 232 205 253 217 208 170 219 ENSG00000215252 chr15 34525207 34588503 - GOLGA8B protein_coding 440270 GO:0032580, GO:0005829, GO:0005801, GO:0005794, GO:0000137, Golgi cisterna membrane, cytosol, cis-Golgi network, Golgi apparatus, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 209 117 327 449 80 363 510 99 241 ENSG00000215256 chr14 23938731 23988839 - DHRS4-AS1 antisense 55449 18 6 18 22 23 32 21 2 32 ENSG00000215262 chr8 36784324 36936128 + KCNU1 protein_coding This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 157855 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0060072, GO:0005244, large conductance calcium-activated potassium channel activity, voltage-gated ion channel activity, GO:0071805, GO:0035036, GO:0034765, GO:0022414, potassium ion transmembrane transport, sperm-egg recognition, regulation of ion transmembrane transport, reproductive process, 0 0 0 0 0 0 0 0 0 ENSG00000215263 chr2 42532766 42533442 - AC025750.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215264 chr8 34322992 34323642 - RPL10AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215267 chr10 5275173 5288470 - AKR1C7P transcribed_unprocessed_pseudogene 2 5 3 8 5 10 4 6 0 ENSG00000215268 chr22 15562017 15564276 - AP000533.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215269 chrX 49570434 49577754 + GAGE12G protein_coding 645073 0 0 0 0 0 0 0 0 0 ENSG00000215270 chr22 15854195 15855243 - AP000523.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000215271 chr14 23272422 23299447 - HOMEZ protein_coding 57594 GO:0005829, GO:0005730, GO:0005654, GO:0005634, GO:0000785, cytosol, nucleolus, nucleoplasm, nucleus, chromatin, GO:0003677, GO:0000981, GO:0000981, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 9 15 17 15 19 23 23 14 21 ENSG00000215274 chrX 49303669 49319844 + GAGE10 protein_coding 102724473 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000215277 chr14 23185316 23273477 + RNF212B protein_coding 100507650 GO:0000795, synaptonemal complex, GO:0046872, GO:0019789, metal ion binding, SUMO transferase activity, GO:0016925, GO:0007131, GO:0007129, protein sumoylation, reciprocal meiotic recombination, homologous chromosome pairing at meiosis, 1 1 3 0 3 3 1 0 0 ENSG00000215278 chr4 17427696 17428274 - RPS7P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215283 chr9 36303499 36304924 - HMGB3P24 processed_pseudogene 1 3 0 3 4 0 2 10 3 ENSG00000215284 chrX 46725164 46725818 - AL512633.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215286 chrX 45913118 45913871 + AL031584.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215288 chr8 27011147 27012371 - AC067904.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215296 chr15 33235552 33247621 - TMCO5B transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215297 chr9 3364329 3364792 - AL354941.1 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000215301 chrX 41333284 41364472 + DDX3X protein_coding The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 1654 GO:1904813, GO:0072559, GO:0070062, GO:0043186, GO:0034774, GO:0031252, GO:0030027, GO:0022627, GO:0010494, GO:0005886, GO:0005852, GO:0005829, GO:0005813, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0005576, ficolin-1-rich granule lumen, NLRP3 inflammasome complex, extracellular exosome, P granule, secretory granule lumen, cell leading edge, lamellipodium, cytosolic small ribosomal subunit, cytoplasmic stress granule, plasma membrane, eukaryotic translation initiation factor 3 complex, cytosol, centrosome, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, extracellular region, GO:0048027, GO:0045296, GO:0043539, GO:0043273, GO:0043024, GO:0043015, GO:0035613, GO:0033592, GO:0031369, GO:0017111, GO:0016887, GO:0008190, GO:0008143, GO:0008134, GO:0005524, GO:0005515, GO:0003924, GO:0003729, GO:0003724, GO:0003724, GO:0003723, GO:0003723, GO:0003723, GO:0003678, GO:0003677, mRNA 5'-UTR binding, cadherin binding, protein serine/threonine kinase activator activity, CTPase activity, ribosomal small subunit binding, gamma-tubulin binding, RNA stem-loop binding, RNA strand annealing activity, translation initiation factor binding, nucleoside-triphosphatase activity, ATPase activity, eukaryotic initiation factor 4E binding, poly(A) binding, transcription factor binding, ATP binding, protein binding, GTPase activity, mRNA binding, RNA helicase activity, RNA helicase activity, RNA binding, RNA binding, RNA binding, DNA helicase activity, DNA binding, GO:2001243, GO:1903608, GO:1902523, GO:1902042, GO:1901985, GO:1901224, GO:1901223, GO:1900227, GO:1900087, GO:0098586, GO:0097193, GO:0090263, GO:0071902, GO:0071651, GO:0071470, GO:0071243, GO:0055088, GO:0045948, GO:0045944, GO:0045944, GO:0045727, GO:0045727, GO:0045087, GO:0045070, GO:0043312, GO:0043280, GO:0043154, GO:0043066, GO:0043065, GO:0042256, GO:0036493, GO:0035556, GO:0034161, GO:0034157, GO:0034063, GO:0032728, GO:0032728, GO:0032727, GO:0032508, GO:0031954, GO:0031333, GO:0030308, GO:0030307, GO:0030154, GO:0017148, GO:0016055, GO:0016032, GO:0010628, GO:0010501, GO:0009615, GO:0008625, GO:0007276, GO:0007059, GO:0006413, negative regulation of intrinsic apoptotic signaling pathway, protein localization to cytoplasmic stress granule, positive regulation of protein K63-linked ubiquitination, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, positive regulation of protein acetylation, positive regulation of NIK/NF-kappaB signaling, negative regulation of NIK/NF-kappaB signaling, positive regulation of NLRP3 inflammasome complex assembly, positive regulation of G1/S transition of mitotic cell cycle, cellular response to virus, intrinsic apoptotic signaling pathway, positive regulation of canonical Wnt signaling pathway, positive regulation of protein serine/threonine kinase activity, positive regulation of chemokine (C-C motif) ligand 5 production, cellular response to osmotic stress, cellular response to arsenic-containing substance, lipid homeostasis, positive regulation of translational initiation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of translation, positive regulation of translation, innate immune response, positive regulation of viral genome replication, neutrophil degranulation, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, positive regulation of apoptotic process, mature ribosome assembly, positive regulation of translation in response to endoplasmic reticulum stress, intracellular signal transduction, positive regulation of toll-like receptor 8 signaling pathway, positive regulation of toll-like receptor 7 signaling pathway, stress granule assembly, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, DNA duplex unwinding, positive regulation of protein autophosphorylation, negative regulation of protein-containing complex assembly, negative regulation of cell growth, positive regulation of cell growth, cell differentiation, negative regulation of translation, Wnt signaling pathway, viral process, positive regulation of gene expression, RNA secondary structure unwinding, response to virus, extrinsic apoptotic signaling pathway via death domain receptors, gamete generation, chromosome segregation, translational initiation, 19998 22646 25393 41999 69175 62585 44034 43678 47464 ENSG00000215302 chr15 30470779 30507623 + AC127502.1 transcribed_unprocessed_pseudogene 1 17 17 7 22 17 6 8 28 ENSG00000215304 chr15 32398956 32435233 - AC135983.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000215305 chr20 2840703 2866732 + VPS16 protein_coding Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]. 64601 GO:0055037, GO:0043025, GO:0031902, GO:0030897, GO:0030897, GO:0030424, GO:0030136, GO:0005776, GO:0005770, GO:0005769, GO:0005768, GO:0005765, GO:0005764, recycling endosome, neuronal cell body, late endosome membrane, HOPS complex, HOPS complex, axon, clathrin-coated vesicle, autophagosome, late endosome, early endosome, endosome, lysosomal membrane, lysosome, GO:0051015, GO:0005515, GO:0003779, actin filament binding, protein binding, actin binding, GO:0097352, GO:0035542, GO:0032889, GO:0016197, GO:0008333, GO:0007033, GO:0006886, autophagosome maturation, regulation of SNARE complex assembly, regulation of vacuole fusion, non-autophagic, endosomal transport, endosome to lysosome transport, vacuole organization, intracellular protein transport, 195 258 253 306 474 297 360 364 310 ENSG00000215310 chrX 33410944 33412173 + AL050305.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215311 chr7 149334024 149334857 + NPM1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215313 chrX 16198428 16199289 - RPL6P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215317 chr21 28901779 28903697 - THUMPD1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215319 chrX 9818239 9819469 - EIF5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215325 chr5 145228811 145230054 + ASS1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215326 chr21 27143344 27143949 - GPX1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215333 chr22 44566965 44568247 + KRT18P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215339 chr8 12356136 12359391 + ZNF705CP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215343 chr8 12104389 12115516 + ZNF705D protein_coding 728957 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000215347 chr22 42001069 42001966 - SLC25A5P1 processed_pseudogene 1 0 1 0 2 1 0 0 0 ENSG00000215349 chr13 19304593 19305625 - MRPL3P1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000215351 chr21 20828127 20828622 - PPIAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215353 chr21 19759359 19760128 - C1QBPP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215354 chr8 8019429 8024652 - FAM90A24P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215356 chr8 7926337 7952413 + ZNF705B protein_coding 100132396 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000215357 chr13 78849231 78851208 + HSPD1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215367 chr4 1115197 1153726 - TMED11P transcribed_unitary_pseudogene 100379220 5 1 0 0 0 10 0 0 4 ENSG00000215368 chr18 5132749 5133229 - BOD1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215369 chr21 17894193 17894485 - RPL37P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215371 chr8 7373114 7377500 + DEFB108C unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215372 chr8 7355517 7385558 - ZNF705G protein_coding 100131980 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 0 0 0 ENSG00000215373 chr8 7287392 7290402 + FAM90A5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215374 chr8 7301611 7355354 - FAM66B lincRNA 0 0 1 0 1 0 0 1 0 ENSG00000215375 chr4 673580 682033 + MYL5 protein_coding This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]. 4636 GO:0005859, GO:0005829, muscle myosin complex, cytosol, GO:0008307, GO:0005509, structural constituent of muscle, calcium ion binding, GO:0006937, GO:0006936, regulation of muscle contraction, muscle contraction, 136 144 173 102 191 134 139 179 143 ENSG00000215378 chr8 6987178 6989721 - DEFT1P unprocessed_pseudogene 170949 0 0 0 0 0 0 0 0 0 ENSG00000215380 chr11 35374265 35374474 + AC090625.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215381 chr1 23244765 23245224 + AL109936.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215386 chr21 15928296 16645065 + MIR99AHG lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000215388 chr20 1160584 1161697 + ACTG1P3 processed_pseudogene 1 6 4 8 14 14 16 11 16 ENSG00000215397 chr20 661596 676179 - SCRT2 protein_coding 85508 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0070888, GO:0046872, GO:0001227, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, E-box binding, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001222, GO:1902042, GO:0006355, GO:0000122, regulation of neuron migration, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 14 19 32 2 5 14 9 6 0 ENSG00000215398 chr14 18333726 18341859 + CR383658.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215399 chr13 101801878 101802488 + HMGB3P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215403 chr22 36965248 36968172 + LL22NC01-81G9.3 antisense 100506241 1 0 0 0 0 0 0 0 0 ENSG00000215409 chr10 27331357 27341252 - AL355493.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215414 chrY 13286638 13287378 + PSMA6P1 processed_pseudogene 8 8 8 4 1 5 3 9 5 ENSG00000215417 chr13 91347820 91354579 + MIR17HG processed_transcript This gene is the host gene for the MIR17-92 cluster, a group of at least six microRNAs (miRNAs) that may be involved in cell survival, proliferation, differentiation, and angiogenesis. Amplification of this gene has been found in several lymphomas and solid tumors. Two non-protein coding transcript variants have been found for this host gene, but only the longest is a polycistronic transcript containing the MIR17-92 cluster. [provided by RefSeq, May 2012]. 407975 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0060437, GO:0060412, GO:0060045, GO:0060044, GO:0050864, GO:0045577, GO:0035195, GO:0030512, GO:0014739, GO:0003215, GO:0003151, GO:0002903, GO:0001782, lung growth, ventricular septum morphogenesis, positive regulation of cardiac muscle cell proliferation, negative regulation of cardiac muscle cell proliferation, regulation of B cell activation, regulation of B cell differentiation, gene silencing by miRNA, negative regulation of transforming growth factor beta receptor signaling pathway, positive regulation of muscle hyperplasia, cardiac right ventricle morphogenesis, outflow tract morphogenesis, negative regulation of B cell apoptotic process, B cell homeostasis, 6 9 19 39 42 30 38 9 20 ENSG00000215418 chr13 89991831 89992878 + PEX12P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215421 chr18 74597870 75065671 + ZNF407 protein_coding This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 55628 GO:0005634, nucleus, GO:0008270, GO:0003677, zinc ion binding, DNA binding, GO:0045944, GO:0010468, positive regulation of transcription by RNA polymerase II, regulation of gene expression, 322 342 393 650 864 921 551 519 492 ENSG00000215424 chr21 46229217 46259390 + MCM3AP-AS1 antisense 114044 158 202 186 224 277 260 194 189 200 ENSG00000215440 chr20 58689131 58719238 + NPEPL1 protein_coding 79716 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0070006, GO:0030145, metalloaminopeptidase activity, manganese ion binding, GO:0006508, proteolysis, 239 308 315 277 431 313 265 299 303 ENSG00000215441 chr9 27608382 27610745 - CTAGE12P processed_pseudogene 6 0 6 14 11 16 16 0 19 ENSG00000215444 chr20 51734533 51735067 + AL138807.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215448 chr20 47859788 47860672 + SRMP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215450 chr20 47160838 47161700 - AL022342.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215452 chr20 46414228 46459276 - ZNF663P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215454 chr21 44573724 44638284 + KRTAP10-4 protein_coding This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]. 386672 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 4 0 0 1 0 0 1 0 ENSG00000215455 chr21 44538981 44540195 - KRTAP10-1 protein_coding This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]. 386677 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000215456 chr22 22630065 22636153 + BCRP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215457 chr18 51845007 51845628 - RPS8P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215458 chr21 43805758 43812567 - AATBC antisense 284837 5 0 7 9 12 4 11 6 14 ENSG00000215464 chr22 24269346 24270134 - AP000354.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215467 chr20 43652523 43653291 + RPL27AP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215472 chr18 49481681 49492479 - RPL17-C18orf32 protein_coding This locus represents naturally occurring read-through transcription between the neighboring RPL17 (ribosomal protein L17) and C18orf32 (chromosome 18 open reading frame 32) genes. Alternative splicing results in multiple transcript variants. The encoded isoforms share sequence identity with the RPL17 protein, but they include frameshifted C-terminal regions derived from the downstream gene exons. [provided by RefSeq, Dec 2010]. 100526842 0 0 0 0 0 0 0 0 0 ENSG00000215474 chr18 47206322 47251603 - SKOR2 protein_coding 652991 GO:0005737, GO:0005667, GO:0005634, GO:0005634, cytoplasm, transcription regulator complex, nucleus, nucleus, GO:1990837, GO:0046332, GO:0046332, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, SMAD binding, SMAD binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030514, GO:0030512, GO:0006355, GO:0000122, negative regulation of BMP signaling pathway, negative regulation of transforming growth factor beta receptor signaling pathway, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000215475 chr13 45777243 45851736 - SIAH3 protein_coding 283514 GO:0005739, GO:0005737, mitochondrion, cytoplasm, GO:0061630, GO:0046872, GO:0031624, GO:0005515, ubiquitin protein ligase activity, metal ion binding, ubiquitin conjugating enzyme binding, protein binding, GO:1903215, GO:0043161, GO:0031647, GO:0016567, GO:0007275, negative regulation of protein targeting to mitochondrion, proteasome-mediated ubiquitin-dependent protein catabolic process, regulation of protein stability, protein ubiquitination, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000215477 chr6 87121693 87122688 - RCN1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215478 chr22 23359603 23387731 - CES5AP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215480 chr13 41442770 41443666 + OR7E37P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215481 chr22 24632915 24650012 + BCRP3 processed_transcript 0 0 0 5 3 0 3 2 6 ENSG00000215482 chr13 41170700 41171148 - CALM2P3 processed_pseudogene 3 2 2 0 1 0 0 4 0 ENSG00000215483 chr13 40079106 40535807 - LINC00598 lincRNA 646982 6 10 20 7 6 4 14 7 14 ENSG00000215486 chr13 36789332 36795050 + ARL2BPP3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215492 chr18 32412214 32413176 - HNRNPA1P7 processed_pseudogene 41 28 32 58 22 86 71 28 70 ENSG00000215493 chr22 20450122 20451824 + AC007731.2 processed_pseudogene 6 13 9 21 12 41 21 7 4 ENSG00000215498 chr22 21167758 21192156 + FAM230B processed_transcript 642633 0 0 0 0 0 0 0 0 0 ENSG00000215506 chrY 26508213 26579690 + TPTE2P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215507 chrY 26123674 26133308 + RBMY2DP transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215512 chr18 15307663 15330282 - AP005901.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215515 chr13 32384660 32386108 + IFIT1P1 processed_pseudogene 1 0 2 4 0 6 4 2 0 ENSG00000215520 chr1 20525989 20526751 + RPS4XP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215529 chr20 32858923 32961609 + EFCAB8 protein_coding 388795 GO:0005509, calcium ion binding, 20 40 19 28 51 14 14 37 23 ENSG00000215533 chr21 29193480 29288205 + LINC00189 sense_overlapping 193629 42 69 27 12 75 24 23 48 33 ENSG00000215537 chrY 22866544 22867756 - ZNF736P11Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215540 chrY 23537308 23546942 - RBMY2CP transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215544 chr22 18855621 18858640 - BCRP7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215545 chr20 31303212 31308585 - DEFB116 protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]. 245930 GO:0005576, extracellular region, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000215546 chr20 31274170 31274867 + DKKL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215547 chr20 31257664 31259632 + DEFB115 protein_coding Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]. 245929 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000215548 chr9 63832127 63859641 - FRG1JP unprocessed_pseudogene 1 0 5 2 2 5 0 1 0 ENSG00000215553 chr20 22732802 22734089 - KRT18P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215559 chr21 13909574 13980437 - ANKRD20A11P transcribed_unprocessed_pseudogene 391267 4 2 14 12 0 30 6 3 22 ENSG00000215560 chrY 22296798 22298876 - TTTY5 lincRNA There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008]. 83863 0 0 0 0 0 0 0 0 0 ENSG00000215562 chr21 13826696 13827627 + CNN2P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215567 chr15 19878555 19887814 + AC138701.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215568 chr22 16961936 17008222 - GAB4 protein_coding 128954 0 0 0 0 1 0 0 0 0 ENSG00000215571 chr13 21319156 21320866 + GRK6P1 processed_pseudogene 0 0 2 0 0 0 2 0 0 ENSG00000215572 chr13 19560013 19561269 - ESRRAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215580 chrY 19455431 19503153 - BCORP1 transcribed_unprocessed_pseudogene 286554 10 2 13 57 4 25 44 1 17 ENSG00000215583 chrY 11922536 11923769 - ASS1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215586 chr20 7831798 7832322 - AL031679.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215589 chr20 5928085 5929318 - KANK1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215595 chr20 1203454 1208274 + C20orf202 protein_coding 400831 GO:0005515, protein binding, 2 0 0 1 2 2 1 1 0 ENSG00000215601 chrY 8280198 8282209 + TSPY24P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215603 chrY 7853686 7854876 - ZNF92P1Y processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000215604 chr13 18467172 18485448 - ZNF962P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215606 chr3 141470634 141471902 - KRT18P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215612 chr4 8846076 8871817 - HMX1 protein_coding This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]. 3166 GO:0005634, GO:0005634, GO:0000785, nucleus, nucleus, chromatin, GO:1990837, GO:0003677, GO:0001227, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0045892, GO:0007275, GO:0006357, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, multicellular organism development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000215630 chr5 71197646 71208130 - GUSBP9 unprocessed_pseudogene 0 1 1 0 1 11 0 4 4 ENSG00000215644 chr17 81804132 81814013 + GCGR protein_coding The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]. 2642 GO:0016021, GO:0005887, GO:0005887, GO:0005886, GO:0005886, GO:0005768, integral component of membrane, integral component of plasma membrane, integral component of plasma membrane, plasma membrane, plasma membrane, endosome, GO:0017046, GO:0008528, GO:0005085, GO:0004967, GO:0004967, peptide hormone binding, G protein-coupled peptide receptor activity, guanyl-nucleotide exchange factor activity, glucagon receptor activity, glucagon receptor activity, GO:0071377, GO:0071377, GO:0070873, GO:0042594, GO:0042593, GO:0010628, GO:0009755, GO:0009267, GO:0008217, GO:0007584, GO:0007189, GO:0007189, GO:0007188, GO:0007188, GO:0007186, GO:0007166, GO:0006887, GO:0006091, cellular response to glucagon stimulus, cellular response to glucagon stimulus, regulation of glycogen metabolic process, response to starvation, glucose homeostasis, positive regulation of gene expression, hormone-mediated signaling pathway, cellular response to starvation, regulation of blood pressure, response to nutrient, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell surface receptor signaling pathway, exocytosis, generation of precursor metabolites and energy, 0 0 0 0 0 0 4 0 0 ENSG00000215692 chr2 241734715 241735498 - AC114730.1 antisense 4 14 10 18 6 4 13 3 4 ENSG00000215695 chr1 15659869 15661722 + RSC1A1 protein_coding The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating the trans-Golgi network and other times is localized to the nucleus, depending on the cell cycle stage. This protein also inhibits the expression of solute carrier family 22 (organic cation transporter), member 2 (SLC22A2). [provided by RefSeq, Dec 2015]. 6248 GO:0030054, GO:0005886, GO:0005794, GO:0005654, cell junction, plasma membrane, Golgi apparatus, nucleoplasm, GO:0019871, GO:0005515, sodium channel inhibitor activity, protein binding, GO:1903077, GO:0051051, GO:0051051, GO:0045920, GO:0042997, GO:0032243, GO:0032243, GO:0010829, GO:0006355, negative regulation of protein localization to plasma membrane, negative regulation of transport, negative regulation of transport, negative regulation of exocytosis, negative regulation of Golgi to plasma membrane protein transport, negative regulation of nucleoside transport, negative regulation of nucleoside transport, negative regulation of glucose transmembrane transport, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000215704 chr1 15465909 15491400 + CELA2B protein_coding Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, Jul 2008]. 51032 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0004252, protein binding, serine-type endopeptidase activity, GO:0006508, proteolysis, 9 10 20 8 18 17 21 5 10 ENSG00000215712 chr6 157289386 157323601 - TMEM242 protein_coding 729515 GO:0016021, integral component of membrane, GO:0005515, protein binding, 13 13 24 42 33 27 48 21 37 ENSG00000215717 chr1 109089803 109096934 + TMEM167B protein_coding 56900 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0045054, constitutive secretory pathway, 2567 2439 3330 497 960 877 555 915 854 ENSG00000215720 chr1 15191828 15192845 - AL035405.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215734 chr21 36994643 36995075 + MRPL20P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215760 chr10 114809375 114811170 + TAF9BP2 processed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000215765 chr19 54724496 54798285 + AC245128.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000215769 chr17 64749663 64781707 - ARHGAP27P1-BPTFP1-KPNA2P3 processed_transcript This locus represents naturally-occurring readthrough transcription between multiple unprocessed pseudogene loci. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Dec 2016]. 109286553 80 116 90 132 207 183 155 115 157 ENSG00000215771 chr22 41189727 41190188 - LRRC37A14P processed_pseudogene 0 0 0 0 1 4 0 0 0 ENSG00000215784 chr1 145096000 145112696 + FAM72D protein_coding 728833 GO:0043231, GO:0016020, GO:0005829, GO:0005829, intracellular membrane-bounded organelle, membrane, cytosol, cytosol, GO:0005515, protein binding, 3 7 1 0 4 1 0 3 0 ENSG00000215785 chr1 10990978 10991797 - CFL1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215788 chr1 6460786 6466195 - TNFRSF25 protein_coding The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [provided by RefSeq, Jul 2008]. 8718 GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005576, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, extracellular region, GO:0038023, GO:0005031, signaling receptor activity, tumor necrosis factor-activated receptor activity, GO:0097190, GO:0042981, GO:0033209, GO:0007166, GO:0007165, GO:0006915, apoptotic signaling pathway, regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, cell surface receptor signaling pathway, signal transduction, apoptotic process, 155 95 241 328 55 297 240 65 163 ENSG00000215790 chr1 1724838 1745999 - SLC35E2A protein_coding 9906 GO:0016021, GO:0005794, integral component of membrane, Golgi apparatus, GO:0015297, GO:0005515, antiporter activity, protein binding, GO:0055085, transmembrane transport, 161 107 152 207 147 166 240 104 81 ENSG00000215795 chr1 247183813 247185482 - AL390728.2 processed_pseudogene 1 0 1 0 0 7 0 0 0 ENSG00000215796 chr1 247042791 247044021 + AL512637.1 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000215800 chr1 242772620 242773103 + RSL24D1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215802 chr1 240823006 240823433 - RFKP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215805 chr1 239972787 239974245 + AL356361.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215807 chr6 112361437 112362722 - KRT18P65 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215808 chr1 238476542 238486054 - LINC01139 lincRNA 339535 0 0 0 0 0 0 0 0 0 ENSG00000215811 chr1 228510425 228512305 - BTNL10 transcribed_unitary_pseudogene 100129094 GO:0016021, GO:0009897, integral component of membrane, external side of plasma membrane, GO:0005102, signaling receptor binding, GO:0050852, GO:0001817, T cell receptor signaling pathway, regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000215812 chr1 227696892 227706699 - ZNF847P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215817 chr1 219609627 219612062 - ZC3H11B processed_pseudogene 643136 GO:0000346, transcription export complex, GO:0046872, GO:0003729, metal ion binding, mRNA binding, GO:0016973, poly(A)+ mRNA export from nucleus, 55 54 67 23 29 48 28 40 44 ENSG00000215819 chr1 214532195 214533467 + KRT18P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215833 chr1 168449672 168451211 - QRSL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215834 chr1 166603916 166631400 + FMO9P transcribed_unprocessed_pseudogene 116123 0 0 0 0 0 0 0 0 0 ENSG00000215835 chr1 166275629 166277597 - AL596087.1 processed_pseudogene 15 13 13 5 11 10 15 8 6 ENSG00000215837 chr3 195658096 195685904 + SDHAP2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215838 chr1 165698750 165709968 + AL451074.1 transcribed_processed_pseudogene 440700 1 0 1 0 0 0 0 0 0 ENSG00000215840 chr1 161406068 161407082 + AL592295.1 processed_pseudogene 7 0 2 6 27 23 3 1 9 ENSG00000215841 chr11 73214998 73215913 - AP002761.1 antisense 2 0 4 0 0 0 0 0 2 ENSG00000215845 chr1 161037631 161038990 - TSTD1 protein_coding 100131187 GO:0048471, GO:0036464, GO:0005829, GO:0005829, GO:0005737, GO:0005737, perinuclear region of cytoplasm, cytoplasmic ribonucleoprotein granule, cytosol, cytosol, cytoplasm, cytoplasm, GO:0050337, thiosulfate-thiol sulfurtransferase activity, GO:0070221, sulfide oxidation, using sulfide:quinone oxidoreductase, 176 180 186 75 126 105 92 155 80 ENSG00000215846 chr1 159276503 159277111 + MPTX1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215853 chr1 152153595 152159228 - RPTN protein_coding 126638 GO:0005829, GO:0005576, GO:0001533, GO:0001533, cytosol, extracellular region, cornified envelope, cornified envelope, GO:0046914, GO:0005509, transition metal ion binding, calcium ion binding, GO:0070268, cornification, 0 0 0 0 0 0 0 0 0 ENSG00000215859 chr1 147993862 148014956 - PDZK1P1 transcribed_unprocessed_pseudogene 0 1 5 6 2 0 15 0 2 ENSG00000215861 chr1 149197992 149321732 - AC245297.1 unprocessed_pseudogene 4 7 6 0 3 1 2 2 0 ENSG00000215864 chr1 119834870 119844514 - NBPF7 unprocessed_pseudogene This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013]. 343505 GO:0005737, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000215866 chr1 112820170 112850643 - LINC01356 lincRNA 100996702 0 0 0 0 0 0 0 0 0 ENSG00000215867 chr1 111648291 111649544 - KRT18P57 processed_pseudogene 8 6 12 3 12 0 5 0 0 ENSG00000215869 chr1 104072983 104226678 + AC092506.1 transcribed_processed_pseudogene 100129138 0 0 0 0 0 0 0 0 4 ENSG00000215871 chr1 100331804 100332617 - AC104457.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215873 chr1 91328369 91329513 + FEN1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215874 chr1 89394033 89394665 + CAPNS1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215875 chr1 81721693 81723068 + ST13P20 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215878 chr6 138402585 138403560 - MARCKSL1P2 processed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000215881 chr13 111596009 111642079 + LINC02337 lincRNA 105370369 0 0 0 0 0 0 0 0 0 ENSG00000215883 chr1 54169651 54200036 - CYB5RL protein_coding 606495 GO:0005789, GO:0005654, endoplasmic reticulum membrane, nucleoplasm, GO:0004128, cytochrome-b5 reductase activity, acting on NAD(P)H, GO:0055114, GO:0015701, oxidation-reduction process, bicarbonate transport, 2 2 10 6 1 19 14 6 13 ENSG00000215887 chr1 49841821 49846400 + ZNF859P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215893 chr1 41098638 41099136 + RPL23AP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215895 chr1 38708931 38710890 + AL354702.1 processed_pseudogene 0 3 0 0 0 1 0 1 0 ENSG00000215899 chr1 31487589 31488930 - AC209007.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215900 chr1 31094987 31095558 - SELENOWP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215905 chr1 24007881 24008519 - AL590609.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215906 chr1 22953043 22965338 - LACTBL1 protein_coding 646262 0 0 0 0 0 0 0 0 0 ENSG00000215908 chr1 16618253 16657232 - CROCCP2 transcribed_unprocessed_pseudogene 84809 54 77 79 76 99 162 90 78 109 ENSG00000215909 chr1 13555001 13555694 + BRWD1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000215910 chr1 11761787 11789585 + C1orf167 protein_coding 284498 57 76 70 125 138 141 107 78 92 ENSG00000215912 chr1 2635976 2801717 - TTC34 protein_coding 100287898 0 2 0 0 0 0 2 0 0 ENSG00000215914 chr1 1699942 1701782 + MMP23A unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000215915 chr1 1449689 1470158 + ATAD3C protein_coding 219293 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0016887, GO:0008270, GO:0005524, ATPase activity, zinc ion binding, ATP binding, GO:0007005, mitochondrion organization, 1 3 0 4 2 5 2 0 0 ENSG00000215930 chr1 117094643 117094728 + MIR942 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126331 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000215938 chr1 154193665 154193743 - MIR190B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126346 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000215939 chr9 28888879 28888955 - MIR873 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126316 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1902807, GO:0060044, GO:0035195, GO:0035195, negative regulation of cell cycle G1/S phase transition, negative regulation of cardiac muscle cell proliferation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000215943 chrX 145996669 145996743 - MIR892A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126342 0 0 0 0 0 0 0 0 0 ENSG00000215952 chr1 166154743 166154798 - MIR921 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126349 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000215957 chr14 101041363 101041445 + MIR300 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126297 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000215961 chr4 110860582 110860647 - MIR297 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126354 GO:0000993, RNA polymerase II complex binding, 0 0 0 0 0 0 0 0 0 ENSG00000215966 chr9 28863626 28863706 - MIR876 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126310 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000215973 chr2 175167633 175167709 - MIR933 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126350 0 0 0 0 0 0 0 0 4 ENSG00000215991 chr14 23417987 23418063 - MIR208B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126336 GO:0005575, cellular_component, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0014883, gene silencing by miRNA, gene silencing by miRNA, transition between fast and slow fiber, 0 0 0 0 0 0 0 0 0 ENSG00000216001 chrX 134540185 134540262 - MIR450B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126302 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216005 chrX 145994784 145994860 - MIR888 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126306 0 0 0 0 0 0 0 0 0 ENSG00000216009 chr5 137647572 137647649 - MIR874 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126343 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216031 chr20 58818226 58818313 - MIR298 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126296 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1902430, GO:0042985, GO:0035278, GO:0035195, GO:0035195, negative regulation of amyloid-beta formation, negative regulation of amyloid precursor protein biosynthetic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216035 chr10 29602264 29602346 - MIR938 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126327 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 4 0 1 ENSG00000216056 chrX 146027794 146027872 - MIR891A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126341 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216058 chr3 189829922 189830009 + MIR944 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126340 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216060 chrX 136550878 136550960 + MIR934 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126324 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216064 chrX 146001053 146001131 - MIR891B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126304 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216069 chr8 99536786 99536861 - MIR875 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126309 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216075 chrX 145994275 145994351 - MIR890 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126303 0 0 0 0 0 0 0 0 0 ENSG00000216077 chr5 15935182 15935260 + MIR887 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126347 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216098 chrX 145997198 145997274 - MIR892B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126307 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000134, GO:1904684, GO:0061045, GO:0043433, GO:0035195, GO:0030336, GO:0008285, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of metalloendopeptidase activity, negative regulation of wound healing, negative regulation of DNA-binding transcription factor activity, gene silencing by miRNA, negative regulation of cell migration, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000216099 chr14 101047901 101047979 + MIR889 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126345 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216101 chr6 30584332 30584417 + MIR877 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126314 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035278, GO:0035195, GO:0032691, miRNA mediated inhibition of translation, gene silencing by miRNA, negative regulation of interleukin-1 beta production, 0 0 0 0 0 0 0 0 0 ENSG00000216135 chr3 10394489 10394562 - MIR885 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126334 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216141 chr20 63919505 63919576 + MIR941-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126339 0 0 0 0 0 0 0 0 0 ENSG00000216171 chrX 147189704 147189787 - MIR513C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302114 0 0 0 0 0 0 0 0 0 ENSG00000216179 chr14 101064495 101064578 + MIR541 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126308 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000216191 chr2 50696172 50696262 - MIR8485 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504737 0 0 0 0 0 0 0 0 0 ENSG00000216192 chr12 24212421 24212495 + MIR920 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126320 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0050728, GO:0035195, GO:0035195, GO:0032720, GO:0032717, GO:0032691, negative regulation of inflammatory response, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interleukin-1 beta production, 0 0 0 0 0 0 0 0 0 ENSG00000216195 chr20 63919756 63919827 + MIR941-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126330 1 0 1 0 1 1 1 0 0 ENSG00000216265 chr6 149304107 149304428 - FABP12P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216285 chr12 104030779 104031543 + AC078819.1 processed_pseudogene 12 18 18 3 2 0 4 9 10 ENSG00000216306 chr12 94834147 94835158 + KRT19P2 transcribed_processed_pseudogene 160313 0 0 0 0 0 0 0 0 0 ENSG00000216307 chr6 4189116 4189806 + AL136309.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216316 chr6 119269133 119269714 - AL022722.1 processed_pseudogene 13 7 15 4 18 20 12 7 9 ENSG00000216324 chr6 87425795 87426088 - AL049697.2 processed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000216331 chr6 26195554 26196633 + HIST1H1PS1 unprocessed_pseudogene 75 274 188 26 100 61 42 116 71 ENSG00000216347 chr6 54602487 54603150 - RPL10P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216352 chr6 80555841 80557189 - AL590824.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216359 chr6 10514282 10514973 + AL139039.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216360 chr6 5817421 5818366 - AL136968.1 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000216364 chr6 16171606 16172031 + MRPL42P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216365 chr6 70098390 70098676 - RPL37P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216368 chr6 10118452 10119253 + AL136226.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216378 chr6 100177209 100178192 + AL080285.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216412 chr6 37091314 37091806 + RPL12P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216425 chr4 105526596 105527397 - AC004066.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216436 chr6 25732497 25732827 + HIST1H2APS1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216439 chr6 85426657 85427125 - DUTP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216444 chr6 150032769 150033566 + RAET1M processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216471 chr6 114084168 114084792 - RPSAP43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216475 chr6 144257034 144257624 - AL024474.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000216480 chr6 159526062 159526527 - AL078604.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216490 chr19 18173162 18178117 + IFI30 protein_coding The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]. 10437 GO:0043231, GO:0043202, GO:0030054, GO:0005829, GO:0005764, GO:0005764, GO:0005576, intracellular membrane-bounded organelle, lysosomal lumen, cell junction, cytosol, lysosome, lysosome, extracellular region, GO:0016667, GO:0016667, GO:0016667, GO:0016491, GO:0005515, oxidoreductase activity, acting on a sulfur group of donors, oxidoreductase activity, acting on a sulfur group of donors, oxidoreductase activity, acting on a sulfur group of donors, oxidoreductase activity, protein binding, GO:0060333, GO:0055114, GO:0042590, GO:0019886, interferon-gamma-mediated signaling pathway, oxidation-reduction process, antigen processing and presentation of exogenous peptide antigen via MHC class I, antigen processing and presentation of exogenous peptide antigen via MHC class II, 98 289 176 3606 7272 5311 3286 4652 4171 ENSG00000216516 chr6 160163539 160163755 - AL645733.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216518 chr6 96750824 96751728 + EEF1GP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216519 chr6 136317961 136318236 + AL023284.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216523 chr6 84966397 84966625 - AL109941.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216548 chr6 140922457 140922910 - AL357084.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216560 chr4 3576869 3590711 + LINC00955 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000216588 chr19 44613630 44636781 + IGSF23 protein_coding This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011]. 147710 GO:0016021, integral component of membrane, 8 38 11 5 25 3 9 25 1 ENSG00000216613 chr6 136419847 136420425 - AL023284.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216616 chr6 47752828 47753240 - AL356421.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216621 chr6 149934527 149936782 + AL583835.2 transcribed_processed_pseudogene 105378052 0 0 0 0 0 0 0 0 0 ENSG00000216624 chr6 166058505 166066028 + GAPDHP72 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216629 chr6 27977150 27978075 + OR2W4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216636 chr6 34616538 34617258 + RPL7P25 processed_pseudogene 6 1 1 0 1 0 7 1 2 ENSG00000216639 chr6 105298149 105298895 + AL133406.1 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000216642 chr6 143327275 143327655 + AL136116.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216649 chrX 49551333 49558649 + GAGE12E protein_coding 729431 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000216657 chr6 3978062 3979099 + GLRX3P2 processed_pseudogene 0 0 5 5 3 1 5 3 10 ENSG00000216663 chr6 112325753 112326749 - AL365214.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216671 chr16 35040164 35084313 + CCNYL3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216676 chr6 27652602 27652825 - AL031229.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216687 chr6 58071720 58073134 - AL390237.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216708 chr11 34430880 34431649 + CIR1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216710 chr6 120781220 120781512 + COX6A1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216713 chr6 153668879 153669901 + MTND4P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216718 chr6 25261239 25261731 + AL024509.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216721 chr2 215804731 215804981 - AC093850.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216723 chr6 114019621 114020483 - NUDT19P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216740 chr10 64825572 64826579 + ANXA2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216753 chr6 134115235 134115736 - HMGA1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216754 chr6 15102946 15104130 - AL050335.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216762 chr6 27060365 27061249 - VN1R13P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216775 chr6 52664366 52669155 + AL109918.1 transcribed_unprocessed_pseudogene 730101 0 0 0 3 1 0 0 0 0 ENSG00000216777 chrY 3549652 3549810 - PRRC2CP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216781 chr6 10365593 10366582 - AL138885.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216802 chr6 138650226 138650973 - AL590617.1 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000216809 chr6 118452469 118454992 - AL589993.1 processed_pseudogene 8 7 1 13 16 8 14 9 0 ENSG00000216811 chr6 146364931 146365494 - AL035698.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216813 chr6 47562622 47563018 + AL358178.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216817 chr6 104017633 104019748 - R3HDM2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216819 chr6 3177044 3179764 - TUBB2BP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216824 chrY 8418791 8419900 - ZNF736P10Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216829 chr9 42667506 42668887 - FGF7P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216835 chr6 48213604 48214794 - RBMXP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216844 chrY 20843256 20843710 - AC009494.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216853 chr6 94446740 94447179 - MTCYBP36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216854 chr6 56871191 56871743 + RPL17P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216859 chr6 62460940 62461503 - DHFRP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216863 chr6 6346465 6622771 - LY86-AS1 antisense 285780 2 3 0 2 0 2 0 3 0 ENSG00000216866 chrX 40934982 40935864 - RPS2P55 processed_pseudogene 0 2 4 2 1 4 1 2 3 ENSG00000216867 chr2 110633947 110634333 + RPL22P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216895 chr7 155611231 155645205 - AC009403.1 antisense 100506302 11 7 12 1 1 4 0 7 4 ENSG00000216901 chr6 28176188 28176674 + ZNF603P unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000216902 chr6 85257328 85257694 + AL122016.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216904 chr6 113222166 113224072 + SOCS5P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216906 chr6 149904243 149906418 + AL355312.1 processed_pseudogene 0 0 0 0 0 0 0 7 0 ENSG00000216913 chr6 50897615 50898225 - AL049693.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216915 chr6 27737000 27738494 - GPR89P processed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000216917 chr6 131780721 131781312 - AC005587.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216921 chr2 241893985 241902551 - AC131097.2 protein_coding 285095 0 0 0 0 0 0 0 0 0 ENSG00000216937 chr10 32446140 32882874 + CCDC7 protein_coding 79741 34 25 21 23 19 36 30 9 26 ENSG00000216938 chrX 26686026 26687955 + RPL7P58 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216966 chr6 167208631 167208897 - AL353747.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000216977 chr6 106642463 106642928 + RPL21P65 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000216990 chr6 87298772 87300447 + HSPD1P10 processed_pseudogene 1 0 0 1 1 0 0 0 0 ENSG00000216998 chr6 49565924 49580166 - CYP2AC1P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217004 chr6 35279177 35279819 - Z97832.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217026 chr21 27420380 27421023 - RPL10P1 processed_pseudogene 1 0 0 0 0 1 0 0 0 ENSG00000217027 chr6 144200447 144200965 - TPT1P4 processed_pseudogene 1 0 0 0 1 0 0 0 2 ENSG00000217030 chr6 4979072 4979494 + AL359643.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217041 chr6 110700562 110700900 + AL512430.2 processed_pseudogene 0 1 0 1 1 0 0 0 0 ENSG00000217044 chr6 153667318 153668106 + MTCO3P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217060 chr6 85286076 85290849 + AL135903.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217067 chr6 62547427 62548272 + AL355375.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217078 chr6 16163377 16163762 - AL021407.1 processed_pseudogene 1 6 8 10 21 24 5 8 14 ENSG00000217083 chr6 24947880 24948344 + MTCO2P33 processed_pseudogene 8 10 24 1 1 2 3 1 6 ENSG00000217085 chr6 153938433 153938992 - HMGB3P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217089 chr6 117048670 117048838 - RPS29P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217094 chr10 32188323 32188817 - PPIAP31 processed_pseudogene 0 1 2 1 0 12 1 0 4 ENSG00000217120 chr6 103002514 103003897 + Z98755.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217128 chr5 131641714 131797063 - FNIP1 protein_coding This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]. 96459 GO:0005829, GO:0005765, GO:0005737, GO:0005737, cytosol, lysosomal membrane, cytoplasm, cytoplasm, GO:0051087, GO:0051087, GO:0042030, GO:0042030, GO:0019899, GO:0005515, GO:0005085, chaperone binding, chaperone binding, ATPase inhibitor activity, ATPase inhibitor activity, enzyme binding, protein binding, guanyl-nucleotide exchange factor activity, GO:2000973, GO:0043154, GO:0033138, GO:0032008, GO:0032007, GO:0031929, GO:0031334, GO:0009267, GO:0002904, GO:0002327, GO:0001934, GO:0001932, GO:0000122, regulation of pro-B cell differentiation, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of peptidyl-serine phosphorylation, positive regulation of TOR signaling, negative regulation of TOR signaling, TOR signaling, positive regulation of protein-containing complex assembly, cellular response to starvation, positive regulation of B cell apoptotic process, immature B cell differentiation, positive regulation of protein phosphorylation, regulation of protein phosphorylation, negative regulation of transcription by RNA polymerase II, 2604 3018 2815 2013 3140 2881 2461 2616 2170 ENSG00000217130 chr6 34744176 34744673 + AL139100.1 processed_pseudogene 4 0 3 13 0 7 0 0 1 ENSG00000217135 chr6 3921847 3922146 + AL590004.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217139 chr6 121682925 121684272 + AL603865.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217159 chr6 26164072 26164363 + LARP1P1 processed_pseudogene 0 2 1 0 0 9 8 6 7 ENSG00000217160 chr6 153665707 153666390 + MTCO2P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217165 chr6 39110321 39112952 + ANKRD18EP processed_pseudogene 11 8 20 9 9 12 24 15 7 ENSG00000217169 chr6 87000045 87000291 - MTHFD2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217178 chr6 74282266 74282660 + AL357563.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217179 chrY 18872102 18872272 + MTCYBP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217181 chr6 10574749 10575227 - AL139039.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217195 chr6 144706733 144707047 - AL513475.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217227 chr6 38587323 38588529 + AL079341.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217228 chr6 52765280 52778347 - GSTA12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217231 chr6 144036618 144037704 + AL109755.1 processed_pseudogene 0 0 1 0 2 2 0 2 2 ENSG00000217236 chr2 174334946 174338492 + SP9 protein_coding 100131390 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030326, GO:0006357, embryonic limb morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000217239 chr6 5788346 5788699 - AL136968.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217241 chr6 116453014 116453565 - CBX3P9 processed_pseudogene 10 5 6 3 0 4 3 7 11 ENSG00000217258 chr2 10452319 10455552 + AC007249.1 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000217261 chr22 20689929 20698938 + POM121L4P transcribed_unprocessed_pseudogene 1 0 0 0 0 0 0 1 0 ENSG00000217268 chr6 74004520 74004812 - TXNP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217272 chr6 86170447 86171018 - AL049545.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217275 chr6 26202156 26202654 + AL031777.1 processed_pseudogene 27 42 54 15 35 41 22 32 24 ENSG00000217289 chr2 129992889 129994040 + AC079776.1 processed_pseudogene 1 1 0 0 3 0 0 0 0 ENSG00000217314 chr6 19638040 19638808 - UQCRFS1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217315 chr6 28033947 28034855 + OR2W2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217325 chr6 126643488 126644390 + PRELID1P1 transcribed_processed_pseudogene 2 2 3 2 0 0 0 0 0 ENSG00000217327 chr1 240012646 240013226 + RPS7P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217330 chr6 118589070 118589634 + SSXP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217331 chr6 96672129 96672969 - AL355143.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217334 chr6 85731371 85732011 + AL355615.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217372 chr6 152898047 152899280 + TUBB4BP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217377 chr6 80077729 80078362 - AK4P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217379 chr6 19143695 19144160 + AL589647.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217385 chr6 4702463 4703779 + PSMC1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217404 chr6 126683036 126683847 + RPS4XP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217408 chr6 25678769 25679164 - PRELID1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217414 chr6 18363417 18365423 - DDX18P3 processed_pseudogene 0 3 1 0 0 0 0 0 0 ENSG00000217416 chr5 62776877 62777263 - ISCA1P1 processed_pseudogene 20 5 8 5 2 2 8 4 7 ENSG00000217442 chr22 50551112 50562905 - SYCE3 protein_coding 644186 GO:0005694, GO:0005634, GO:0000801, GO:0000801, chromosome, nucleus, central element, central element, GO:0005515, protein binding, GO:0051301, GO:0043065, GO:0007283, GO:0007131, GO:0007131, GO:0007130, GO:0007130, cell division, positive regulation of apoptotic process, spermatogenesis, reciprocal meiotic recombination, reciprocal meiotic recombination, synaptonemal complex assembly, synaptonemal complex assembly, 2 0 1 0 0 0 0 1 0 ENSG00000217447 chr6 167347472 167348053 + AL021331.1 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000217455 chr7 3140234 3174654 - AC073316.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000217477 chr6 63193072 63193630 - AL450346.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217482 chr6 135636086 135636713 - HMGB1P17 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000217483 chr6 72522641 72523238 + FO393414.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217488 chr6 75610958 75611945 - AL356057.1 transcribed_processed_pseudogene 1 0 1 0 0 2 0 0 0 ENSG00000217495 chr6 143298770 143299554 - AL136116.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217512 chr6 79067692 79068138 - AL356776.1 processed_pseudogene 3 3 5 2 2 0 2 1 5 ENSG00000217514 chr6 163363210 163363463 + AL031121.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217527 chr6 53336943 53337346 - RPS16P5 transcribed_processed_pseudogene 6 2 16 5 6 47 3 9 33 ENSG00000217539 chr6 28010723 28012355 + IQCB2P processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000217555 chr16 66552563 66566251 + CKLF protein_coding The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011]. 51192 GO:0016021, GO:0016021, GO:0016020, GO:0005615, GO:0005576, integral component of membrane, integral component of membrane, membrane, extracellular space, extracellular region, GO:0008009, GO:0005515, chemokine activity, protein binding, GO:0048247, GO:0048246, GO:0032940, GO:0030593, GO:0007165, lymphocyte chemotaxis, macrophage chemotaxis, secretion by cell, neutrophil chemotaxis, signal transduction, 163 98 278 29 43 66 50 44 47 ENSG00000217557 chr6 162957258 162957548 - AL590286.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217566 chr6 3941282 3941801 + TDGF1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217576 chr13 52167709 52291557 - AL158066.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000217585 chr6 16107622 16108593 + AL021407.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217612 chr6 145489630 145492092 - AL031119.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217624 chrX 41675760 41676494 - AL627402.1 processed_pseudogene 0 2 2 1 2 0 3 1 1 ENSG00000217631 chr6 49273600 49273794 + FO393413.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217643 chr2 25822469 25822950 + PTGES3P2 processed_pseudogene 0 1 4 1 0 2 6 2 0 ENSG00000217644 chr1 32979947 32980472 + AL355864.1 processed_pseudogene 13 13 34 6 5 3 4 6 4 ENSG00000217646 chr6 27864062 27864401 - HIST1H2BPS2 processed_pseudogene 0 1 0 0 4 3 4 0 2 ENSG00000217648 chr6 143342246 143343383 + AL136116.3 processed_pseudogene 1 2 0 1 1 0 0 2 0 ENSG00000217653 chr6 89814709 89815463 + AL353692.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217680 chr6 75465123 75465570 + UBE2V1P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217684 chr6 140761529 140762262 + RPS3AP24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217686 chr13 98610292 98610876 - NUS1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217702 chr2 74130583 74135395 + AC073263.1 lincRNA 1 1 1 0 7 0 2 3 3 ENSG00000217707 chr6 3048835 3049211 + SERPINB8P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217716 chr9 88016300 88016793 + RPS10P3 processed_pseudogene 1 2 2 15 3 22 0 3 13 ENSG00000217718 chr2 25886964 25887206 - NDUFB4P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217733 chr6 149879962 149881572 + CCT7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217746 chr6 7938430 7939322 - AL096800.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217767 chr6 70734503 70734962 + NDUFAB1P1 processed_pseudogene 0 0 0 3 0 2 2 0 1 ENSG00000217769 chr6 86897118 86897421 + AL157777.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000217770 chr6 112365704 112367444 - FEM1AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217776 chr6 87070156 87070461 - AL138827.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217783 chr6 157299045 157300126 - LDHAL6FP processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000217786 chr6 79326568 79327207 - AL355379.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217791 chr5 53859166 53860401 + ASS1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217801 chr1 1059734 1069355 + AL390719.1 transcribed_unprocessed_pseudogene 100288175 2 3 12 14 1 18 12 4 25 ENSG00000217805 chr6 25181359 25181745 + AL590084.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217809 chr20 10888582 10889088 - FAT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217811 chr6 64631205 64631682 - HNRNPDP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217824 chr6 148567378 148567654 - SNRPEP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217825 chr7 155196563 155198455 - AC099552.1 lincRNA 0 0 0 0 0 0 1 0 4 ENSG00000217835 chrX 65956289 65957196 - AL034397.1 processed_pseudogene 0 0 2 0 1 0 0 0 0 ENSG00000217862 chr6 27807075 27807339 + HIST1H4PS1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217874 chr6 170639606 170640536 + OR4F7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217878 chr6 165117195 165117524 - AL136100.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217889 chrX 153604497 153605348 - KRT18P48 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000217896 chrY 18985175 18986398 + ZNF839P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217897 chr1 39304294 39304898 - HSPE1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000217929 chr6 131910 145083 - CICP18 transcribed_processed_pseudogene 2 3 2 0 3 0 0 1 1 ENSG00000217930 chr16 4331549 4355607 - PAM16 protein_coding This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]. 51025 GO:0032991, GO:0031314, GO:0005759, GO:0005744, GO:0001405, GO:0001405, protein-containing complex, extrinsic component of mitochondrial inner membrane, mitochondrial matrix, TIM23 mitochondrial import inner membrane translocase complex, PAM complex, Tim23 associated import motor, PAM complex, Tim23 associated import motor, GO:0005515, protein binding, GO:1902511, GO:0090201, GO:0032780, GO:0030150, GO:0030150, GO:0001503, negative regulation of apoptotic DNA fragmentation, negative regulation of release of cytochrome c from mitochondria, negative regulation of ATPase activity, protein import into mitochondrial matrix, protein import into mitochondrial matrix, ossification, 0 0 0 0 0 0 0 0 2 ENSG00000217950 chr2 131442644 131444587 - NOC2LP2 processed_pseudogene 3 0 1 1 1 2 1 1 1 ENSG00000218014 chr6 71584721 71585906 + KRT19P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218016 chr6 28188050 28189432 + ZNF192P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218018 chr20 57384160 57393062 - AL109955.1 antisense 100291105 102 110 163 61 72 79 76 55 92 ENSG00000218020 chr6 11514192 11516466 + THAP12P5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218027 chr6 1513698 1515289 - AL512329.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218029 chr6 79354443 79354713 - AL078601.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218048 chr6 63440766 63443580 + AL121949.1 unprocessed_pseudogene 0 1 0 0 2 0 0 3 0 ENSG00000218049 chr6 53368670 53369009 + RPL31P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218052 chr15 85255369 85330334 - ADAMTS7P4 transcribed_unprocessed_pseudogene 0 0 0 1 1 0 3 3 0 ENSG00000218069 chr6 27780619 27781111 - RSL24D1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218073 chr6 16160926 16161411 + AL021407.3 processed_pseudogene 13 10 9 12 33 35 19 31 34 ENSG00000218089 chr6 114349483 114350648 - DNAJA1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218107 chr6 43705949 43706751 - AL136131.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218109 chr11 127002910 127006058 + KIRREL3-AS3 antisense 283165 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000218125 chr21 30526546 30526701 - AP000567.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218143 chr6 54016479 54016777 - ERHP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218153 chr6 116457323 116458669 - KRT18P22 processed_pseudogene 0 1 0 0 1 0 0 2 0 ENSG00000218173 chr6 104687241 104687671 + AL356967.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218175 chr2 176200908 176201252 - AC016739.1 processed_pseudogene 7 13 18 22 15 14 7 9 12 ENSG00000218180 chr6 121653795 121654690 + SLC25A5P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218186 chr6 24598012 24599790 + KRT8P43 processed_pseudogene 14 11 4 5 16 0 6 5 3 ENSG00000218187 chr6 127654860 127655278 - AL356432.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218189 chr6 57937458 57939015 + POM121L14P processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000218194 chr6 132674885 132675383 + HLFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218198 chr13 27017554 27017909 - RPS20P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218208 chr6 113581501 113581947 + RPS27AP11 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000218213 chr6 133676729 133677429 - FTH1P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218226 chr6 158609706 158621636 - TATDN2P2 processed_pseudogene 38 56 86 31 18 46 60 16 21 ENSG00000218227 chr5 178055604 178056194 + AC136632.1 processed_pseudogene 1 0 2 6 0 2 3 1 0 ENSG00000218233 chr6 117633706 117645087 + NEPNP unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218261 chr6 53378503 53378861 + AL591034.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218265 chr6 13521266 13522045 + RPS4XP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218274 chr6 63395007 63397106 - AL121949.2 unprocessed_pseudogene 1 2 0 0 1 0 3 0 1 ENSG00000218281 chr6 26233122 26233255 + HIST1H2APS3 unprocessed_pseudogene 1 0 0 1 1 2 0 0 0 ENSG00000218283 chr1 220253570 220254536 + MORF4L1P1 processed_pseudogene 606 483 609 208 295 267 240 346 233 ENSG00000218300 chr6 89876544 89876878 + RPL22P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218305 chr7 48919765 48927454 + CDC14C protein_coding This gene represents a retrogene of cell division cycle 14B (CDC14B), which is located on chromosome 9. The introns in the coding sequence have been processed out relative to the CDC14B locus, but there is an intact open reading frame that is missing only some sequence at the N-terminus, including the nuclear localiztion signal, relative to proteins encoded by the CDC14B gene. There is a difference in the subcellular localization of the protein encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras of the protein encoded by this gene localize to the endoplasmic reticulum, indicating a possible new functional role for this gene. [provided by RefSeq, Nov 2017]. 168448 GO:0072686, GO:0016021, GO:0005813, GO:0005789, GO:0005737, GO:0005730, GO:0000922, mitotic spindle, integral component of membrane, centrosome, endoplasmic reticulum membrane, cytoplasm, nucleolus, spindle pole, GO:0106307, GO:0106306, GO:0008138, GO:0004725, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein tyrosine phosphatase activity, protein serine/threonine phosphatase activity, GO:0071850, GO:0060271, GO:0035335, GO:0032467, GO:0031572, GO:0007096, GO:0000278, GO:0000226, mitotic cell cycle arrest, cilium assembly, peptidyl-tyrosine dephosphorylation, positive regulation of cytokinesis, G2 DNA damage checkpoint, regulation of exit from mitosis, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 3 0 0 2 0 0 1 ENSG00000218313 chr6 87173368 87174303 - AL139274.1 processed_pseudogene 4 0 6 1 1 4 1 1 3 ENSG00000218336 chr4 182143987 182803024 + TENM3 protein_coding This gene encodes a large transmembrane protein that may be involved in the regulation of neuronal development. Mutation in this gene causes microphthalmia. [provided by RefSeq, Aug 2015]. 55714 GO:0043005, GO:0030424, GO:0016020, GO:0005887, neuron projection, axon, membrane, integral component of plasma membrane, GO:0050839, GO:0046982, GO:0046982, GO:0042803, GO:0042803, cell adhesion molecule binding, protein heterodimerization activity, protein heterodimerization activity, protein homodimerization activity, protein homodimerization activity, GO:1903385, GO:0048666, GO:0048593, GO:0010976, GO:0007165, GO:0007157, GO:0007156, regulation of homophilic cell adhesion, neuron development, camera-type eye morphogenesis, positive regulation of neuron projection development, signal transduction, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, 0 0 0 0 0 0 0 1 0 ENSG00000218337 chr6 49077712 49078051 - AL589994.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218347 chr6 27523076 27524339 + HNRNPA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218350 chr6 71165076 71165770 + LYPLA1P3 processed_pseudogene 2 0 2 0 3 1 0 0 0 ENSG00000218351 chr6 141635650 141636503 - RPS3AP23 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218357 chr22 47461299 47487111 - LINC01644 lincRNA 101927722 0 0 0 4 1 0 0 0 0 ENSG00000218358 chr6 149998019 150005157 - RAET1K transcribed_unprocessed_pseudogene 646024 0 0 1 6 0 2 3 4 0 ENSG00000218359 chr6 17582034 17582305 + SUMO2P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218363 chr6 52246460 52247362 + SLC25A20P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218410 chrY 3851224 3852869 - AC012078.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218416 chr2 240449315 240456714 - AC110619.1 processed_transcript 100130449 0 0 0 0 0 0 0 0 0 ENSG00000218418 chr6 80064286 80070199 - AL591135.1 processed_pseudogene 1 1 3 3 1 6 6 1 1 ENSG00000218424 chr6 136475862 136476150 - NDUFS5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218426 chr6 153282287 153282733 - AL590867.2 processed_pseudogene 132 74 34 81 109 555 386 215 332 ENSG00000218428 chr6 116137058 116137572 - NIP7P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218454 chr17 20771058 20771427 - HNRNPA1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218459 chr6 73618346 73618597 + RPS27P15 processed_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000218472 chr6 3913922 3914292 - AL590004.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218475 chr6 101430411 101431553 - ACTG1P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218476 chr6 23102680 23103546 + AL591416.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218483 chr6 74610449 74610715 - AL356277.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218490 chr6 113010937 113011415 + FCF1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218499 chr6 138393373 138393544 + AL031003.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218502 chr13 99215372 99215758 - H2AFZP3 processed_pseudogene 3 1 0 2 0 0 1 1 0 ENSG00000218510 chr1 22024558 22031223 + LINC00339 processed_transcript 29092 16 14 15 12 23 27 21 23 28 ENSG00000218512 chr6 23856698 23856818 - SPTLC1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218520 chr6 63229087 63230110 - AL450346.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218521 chr6 38002832 38003313 - AL589655.1 processed_pseudogene 4 0 1 1 5 0 0 2 0 ENSG00000218536 chr6 102078872 102079555 + AP002530.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218537 chr22 23894426 23898930 - MIF-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000218549 chr21 13581060 13582004 - OR4K12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218561 chr6 86729708 86730108 - AL353133.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218565 chr6 139338018 139339580 + AL592429.1 processed_pseudogene 0 5 0 1 3 8 0 4 6 ENSG00000218574 chr6 5609227 5610195 - HNRNPA1P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218577 chr6 167607 170631 - AL035696.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218582 chr6 79953005 79954011 - GAPDHP63 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218586 chr7 54933699 54938184 + AC006971.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000218596 chr6 156976294 156977072 + AL162578.1 processed_pseudogene 2 1 0 0 0 2 1 1 1 ENSG00000218617 chr6 63392222 63392606 + AL121949.3 processed_pseudogene 0 1 0 0 1 0 0 0 0 ENSG00000218631 chr6 157372556 157373171 - AL117344.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218632 chr6 109327175 109327914 - RPL7P28 processed_pseudogene 0 0 1 0 0 0 1 0 0 ENSG00000218643 chr6 19348181 19349076 + RPL5P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218672 chr7 155382076 155396356 + AC008060.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000218676 chr6 111430260 111431781 + BRD7P4 processed_pseudogene 1 5 4 2 5 2 4 1 0 ENSG00000218682 chr2 25856461 25856966 - AC064847.1 processed_pseudogene 1 2 4 2 0 7 3 3 7 ENSG00000218689 chr6 129756298 129757112 - RPL5P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218690 chr6 26272021 26272701 - HIST1H2APS4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218698 chr6 87444395 87445175 - ST13P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218713 chr6 53206598 53208697 - AL512378.1 processed_pseudogene 3 5 3 21 26 16 24 12 13 ENSG00000218716 chr6 170199769 170200258 + RPL12P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218725 chr6 129800908 129802214 + B3GALNT2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218728 chrX 128714506 128715790 + KRT18P44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218730 chr6 90116700 90117105 - AL117342.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218732 chr6 72316599 72317436 - AL035633.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218739 chr2 37196488 37216193 + CEBPZOS protein_coding 100505876 GO:0031966, GO:0016021, mitochondrial membrane, integral component of membrane, 99 95 149 156 127 154 151 95 112 ENSG00000218748 chr6 79436908 79437167 - DBIP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218749 chr6 35607628 35607934 + AL033519.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218754 chr3 96619304 96619831 + RPL18AP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218757 chr6 154845074 154845620 - AL121952.1 processed_pseudogene 0 1 0 0 2 0 0 0 0 ENSG00000218766 chr6 85868953 85869464 + AL450338.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218772 chr6 134603564 134604698 - FAM8A6P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218776 chr6 153666627 153667318 + MTATP6P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218792 chr6 152705735 152706128 + HSPD1P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218793 chr6 87441165 87442146 - AL049697.3 processed_pseudogene 1 0 0 0 4 0 0 0 0 ENSG00000218803 chr6 111046868 111047521 - GSTM2P1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000218806 chr6 24750671 24751625 - AL133264.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218809 chr6 41269875 41270239 - AL391903.1 unprocessed_pseudogene 210 261 164 1153 1335 1714 1517 952 1291 ENSG00000218813 chr6 63797189 63798031 + AL354719.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218819 chr2 21123917 21143272 + TDRD15 protein_coding 100129278 0 0 0 0 0 0 0 0 0 ENSG00000218823 chr7 4857733 4861994 - PAPOLB protein_coding 56903 GO:0005634, nucleus, GO:0046872, GO:0005524, GO:0004652, GO:0003723, metal ion binding, ATP binding, polynucleotide adenylyltransferase activity, RNA binding, GO:0006378, mRNA polyadenylation, 0 0 0 0 0 0 0 0 0 ENSG00000218834 chr6 68598204 68598393 - AL606923.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218839 chr9 34394 37269 - FAM138C lincRNA 654835 0 0 0 0 0 0 0 0 0 ENSG00000218857 chr6 131184325 131185486 - AL137222.1 processed_pseudogene 0 0 0 0 0 6 0 2 0 ENSG00000218868 chr6 6534697 6535631 + CNN3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218870 chr6 70663502 70664279 - SLC25A6P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218872 chr6 108856400 108856737 - AL445189.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218890 chr6 66093431 66094909 - NUFIP1P processed_pseudogene 4 2 2 3 7 1 3 1 2 ENSG00000218891 chr19 55576770 55580845 - ZNF579 protein_coding 163033 GO:0005634, nucleus, GO:0046872, GO:0003723, GO:0003677, metal ion binding, RNA binding, DNA binding, 8 14 15 17 6 11 16 6 13 ENSG00000218893 chr6 12319453 12319592 + SUMO2P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218896 chr6 143436216 143436710 + TUBB8P2 processed_pseudogene 1 0 0 1 1 0 0 0 0 ENSG00000218902 chr20 18011955 18012284 + PTMAP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218965 chr6 89422099 89423048 - NACAP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218976 chr6 18366736 18368644 - AL138725.1 unprocessed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000218980 chr6 57004520 57004799 + FTH1P15 processed_pseudogene 0 0 1 0 1 1 1 0 2 ENSG00000218986 chr6 39353747 39354172 + AL136087.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000218991 chr6 132698783 132699667 + CCNG1P1 processed_pseudogene 0 0 0 0 0 2 2 0 0 ENSG00000218996 chr6 150934968 150935566 + ARL4AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219023 chr6 35555873 35556264 + AL033519.2 processed_pseudogene 1 0 0 3 3 2 0 1 1 ENSG00000219027 chr16 1477830 1478583 + RPS3AP2 processed_pseudogene 0 0 0 22 31 23 14 19 27 ENSG00000219039 chr7 75835663 75836141 + AC005102.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219061 chr11 49833140 49839320 - TRIM51FP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219073 chr1 21977021 21998642 + CELA3B protein_coding Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009]. 23436 GO:0005615, extracellular space, GO:0008233, GO:0004252, GO:0004252, peptidase activity, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000219074 chr6 53196720 53197159 - SOD1P1 processed_pseudogene 0 0 4 0 10 3 9 12 0 ENSG00000219085 chr6 69705287 69706160 - NPM1P37 processed_pseudogene 3 9 3 10 4 15 7 9 6 ENSG00000219087 chr6 91727159 91727324 + MTND4LP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219088 chr6 105666326 105667998 + Z97206.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219095 chr6 56276529 56276796 - DHFRP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219102 chr1 53974969 53976031 - HNRNPA3P12 processed_pseudogene 0 2 0 0 0 0 1 1 0 ENSG00000219133 chr1 204346776 204347258 - AL592114.1 processed_pseudogene 0 0 3 5 1 1 1 0 1 ENSG00000219135 chr6 121679972 121680459 - RPL23AP48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219139 chr6 96653274 96654142 + TYMSP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219146 chr6 154576309 154577079 + RPS4XP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219149 chr9 76549282 76549771 - PPIAP87 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219150 chr6 110706362 110706882 - AL603914.1 processed_pseudogene 0 0 0 0 0 0 8 1 0 ENSG00000219159 chr2 240686334 240690414 + AC011298.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000219163 chr6 53235621 53236297 - HMGB1P20 processed_pseudogene 3 13 9 11 35 38 28 22 27 ENSG00000219186 chrX 37492021 37492548 + FTH1P19 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219188 chr6 158515605 158516229 - CACYBPP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219190 chr6 86768522 86768932 - AL353133.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219200 chr17 7012417 7014532 + RNASEK protein_coding 440400 GO:0016021, GO:0005575, integral component of membrane, cellular_component, GO:0005515, GO:0004521, GO:0004521, protein binding, endoribonuclease activity, endoribonuclease activity, GO:0090502, RNA phosphodiester bond hydrolysis, endonucleolytic, 115 139 161 572 563 566 568 432 444 ENSG00000219201 chr1 77810861 77811781 - AC138392.1 processed_pseudogene 22 22 27 24 14 48 27 15 30 ENSG00000219222 chr6 43310231 43310357 + RPL12P47 processed_pseudogene 0 1 0 1 0 0 0 0 0 ENSG00000219240 chr6 89886156 89887848 + AL353692.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219249 chr6 158725747 158726803 - AMZ2P2 processed_pseudogene 2 7 2 0 2 5 0 0 3 ENSG00000219253 chr6 77496119 77496671 + RPS6P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219257 chr6 100050372 100051236 - NPM1P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219262 chr6 28455648 28456141 - OR2E1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219273 chr6 38762905 38764694 + AL035555.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219274 chr16 1329078 1329777 + RPS20P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219280 chr21 13476371 13477263 + VN1R8P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219284 chr6 127632958 127635321 - AL592291.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219294 chr6 7986537 7988192 + PIP5K1P1 processed_pseudogene 0 0 0 0 0 1 0 2 0 ENSG00000219297 chr6 144136450 144136775 + MRPL42P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219298 chr6 149977471 149979105 + AL355497.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219302 chr6 129819637 129820170 - AL451046.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219314 chr6 17381367 17382120 + AL034372.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219329 chr6 110923566 110924107 + AL357515.1 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000219355 chr12 120450437 120450803 - RPL31P52 processed_pseudogene 0 4 3 0 1 1 5 2 3 ENSG00000219361 chr6 80470071 80470428 - RPSAP72 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219368 chr21 23090028 23091831 - ZNF299P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219375 chr6 7331286 7331676 - AL139095.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219384 chr6 45158870 45159511 + AL138880.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219387 chr6 92887251 92888581 - ATF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219391 chr2 44065894 44066154 - AC019129.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219392 chr6 28115628 28116551 + ZNF602P unprocessed_pseudogene 1 0 0 0 0 0 1 1 0 ENSG00000219395 chr6 151411259 151413945 - HSPA8P15 processed_pseudogene 0 0 0 2 1 0 0 2 0 ENSG00000219404 chr6 22213306 22214237 - AL359694.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219409 chr6 144397959 144398752 + AL590704.1 processed_pseudogene 1 0 0 2 0 2 1 1 0 ENSG00000219410 chr12 6663260 6672069 + AC125494.1 bidirectional_promoter_lncRNA 353 376 306 346 398 308 338 319 256 ENSG00000219430 chr10 79582298 79584877 - MBL3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219433 chr6 149794763 149795746 + BTBD10P2 processed_pseudogene 0 0 2 1 1 3 0 1 3 ENSG00000219435 chr11 64300391 64304770 + CATSPERZ protein_coding 25858 GO:0097228, GO:0097228, GO:0036128, GO:0036128, GO:0005737, sperm principal piece, sperm principal piece, CatSper complex, CatSper complex, cytoplasm, GO:0048240, GO:0048240, GO:0030317, GO:0030317, GO:0007283, GO:0007140, sperm capacitation, sperm capacitation, flagellated sperm motility, flagellated sperm motility, spermatogenesis, male meiotic nuclear division, 0 0 0 1 0 0 0 0 0 ENSG00000219438 chr22 48489460 48850912 + FAM19A5 protein_coding This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013]. 25817 GO:0005615, extracellular space, GO:0005125, cytokine activity, GO:0007165, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000219445 chr7 125229579 125264291 - AC019155.2 lincRNA 101928254 0 0 0 0 0 0 0 0 0 ENSG00000219451 chr7 20827326 20827753 + RPL23P8 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000219453 chr6 23649496 23649774 + AL133270.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219463 chr6 137995270 137996147 + RPSAP42 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000219470 chr6 43538822 43539703 - AL355802.1 processed_pseudogene 0 0 0 1 0 0 3 0 1 ENSG00000219481 chr1 16562319 16613562 - NBPF1 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]. 55672 GO:0005737, cytoplasm, GO:0005515, protein binding, 10 11 17 6 8 23 10 3 5 ENSG00000219487 chr6 149112009 149112672 - AL603766.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219491 chr8 36888482 36889307 + TPT1P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219492 chr4 9384017 9388983 - AC116655.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219500 chr6 86432244 86432669 + AL391417.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219507 chrX 148052233 148052746 + FTH1P8 processed_pseudogene 165 171 218 133 183 165 137 256 149 ENSG00000219529 chr11 77813319 77813676 - AP000580.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219532 chr6 131819803 131820091 - SELENOKP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219545 chr7 7640711 7968020 + UMAD1 protein_coding 729852 GO:0005515, protein binding, 151 129 139 76 109 91 126 140 118 ENSG00000219547 chr6 80374015 80374569 - RPL17P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219549 chr6 95630115 95632929 - AL607077.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219553 chr6 149491567 149492289 - AL031133.1 processed_pseudogene 6 0 0 1 8 0 0 3 1 ENSG00000219559 chr6 110562175 110562615 - AL512430.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219565 chr6 108782126 108787053 - ZNF259P1 transcribed_processed_pseudogene 3 2 3 0 6 3 8 4 0 ENSG00000219575 chr6 71550958 71551643 - AL035467.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219582 chr6 24001824 24002433 + HNRNPA1P58 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219592 chr21 27492118 27492261 + NCSTNP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219604 chr6 84689292 84689429 - AL590143.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219607 chr6 5084581 5089487 + PPP1R3G protein_coding 648791 GO:0000164, protein phosphatase type 1 complex, GO:2001069, GO:0008157, glycogen binding, protein phosphatase 1 binding, GO:2000467, GO:0045725, GO:0042593, GO:0005979, positive regulation of glycogen (starch) synthase activity, positive regulation of glycogen biosynthetic process, glucose homeostasis, regulation of glycogen biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000219608 chr20 35878476 35878733 + HIGD1AP16 processed_pseudogene 4 2 1 3 0 8 2 1 5 ENSG00000219619 chr6 115358498 115358752 - AL606845.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219622 chr6 150504811 150510300 - AL451061.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219626 chr2 24076526 24169640 + FAM228B protein_coding 375190 79 58 79 51 54 87 68 36 69 ENSG00000219627 chr6 95504182 95504496 + CYCSP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219642 chr6 129157523 129159120 - BMPR1AP1 processed_pseudogene 0 0 1 0 0 7 0 0 0 ENSG00000219653 chr6 63857441 63857769 + GCNT1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219665 chr19 11987617 12046275 + ZNF433-AS1 processed_transcript 101928464 18 34 29 396 375 948 301 331 658 ENSG00000219666 chr6 129783769 129784045 - AL451046.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219669 chr6 71075564 71076375 + BECN1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219681 chr6 25218688 25219069 + AL590084.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219682 chr6 25140003 25141403 + AL133268.1 processed_pseudogene 7 10 16 8 10 7 5 1 2 ENSG00000219693 chr9 62888535 62889921 + FGF7P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219699 chr6 127659690 127660579 - AL356432.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219700 chr6 109288571 109290503 - PTCHD3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219702 chr6 81764211 81764503 + AL078599.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219703 chr6 117431591 117432442 + RAP1BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219712 chr6 669081 670307 - AL357054.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219722 chr6 75499705 75500136 + RPL26P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219736 chr6 74849077 74850484 - AL356473.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219738 chr6 27560822 27561744 - CD83P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219747 chr6 151099529 151099933 + AL133260.1 processed_pseudogene 0 0 0 0 0 0 1 1 0 ENSG00000219755 chr6 99575712 99576456 + AL137784.1 processed_pseudogene 0 0 0 1 1 0 0 1 0 ENSG00000219757 chr6 102453367 102453792 - AL357139.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219758 chr6 113839279 113839621 + FO393415.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219770 chr6 27083280 27084147 + VN1R11P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219773 chr6 112355841 112356714 - RPSAP45 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000219776 chr6 131469059 131469536 + RPL21P67 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219784 chr6 121478273 121479908 - AL138729.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219790 chr6 56975606 56976062 - OSTCP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219797 chr6 31519480 31520291 - PPIAP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219806 chr6 139614438 139615204 - ATP5PBP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219807 chr7 94833904 94834447 + ARF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219814 chr6 170745518 170745977 + RPL23AP47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219863 chr6 53354715 53355065 + RPL31P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219867 chr6 91815843 91816428 - AL590635.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219870 chrX 9179385 9179606 + AC119618.1 processed_pseudogene 2 0 0 2 0 0 0 0 0 ENSG00000219881 chr6 69745871 69746851 + GAPDHP42 processed_pseudogene 5 4 6 7 8 8 4 4 2 ENSG00000219891 chr6 28091154 28093664 + ZSCAN12P1 transcribed_unprocessed_pseudogene 1 1 0 6 8 3 3 6 13 ENSG00000219902 chr6 105302453 105302823 - RPL35P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219926 chr13 63828840 63844125 - OR7E104P transcribed_unprocessed_pseudogene 102723968 0 0 0 0 0 0 0 0 0 ENSG00000219928 chr9 87525302 87525475 + AL161787.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219930 chrX 136077844 136078631 + GAPDHP67 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219932 chr10 67874332 67874911 + RPL12P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219940 chr6 63227485 63227743 + SPTLC1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219941 chr6 95991107 95992349 + KRT18P50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219951 chr6 83392416 83393409 + AL391416.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000219986 chr6 6794915 6795402 - BTF3P7 processed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000219992 chr6 3754099 3754840 + AL391422.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000219993 chr6 7506203 7506549 + AL138878.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220008 chr19 2289784 2292024 - LINGO3 protein_coding 645191 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, 292 358 386 161 315 348 254 295 340 ENSG00000220030 chr6 61240898 61241311 + AL356131.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220069 chr6 86086415 86087134 - RPL7P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220076 chr6 38928031 38928153 + AL034345.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220091 chr6 82924829 82925122 - LAP3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220105 chr9 4781475 4782078 - AL353151.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220110 chr6 128639188 128639653 - AL080315.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220113 chr6 133150568 133150816 + MTCYBP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220125 chrX 48583093 48583339 - MRPL32P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220130 chr6 89001548 89001814 + AL079342.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220131 chr6 88265158 88265511 + AL121835.1 processed_pseudogene 1 2 0 0 0 0 3 1 0 ENSG00000220132 chrX 49911620 49912362 - AC236430.1 processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000220139 chr6 119159297 119159476 + AL022722.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220154 chr6 79278105 79278427 - AL355796.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000220157 chr5 80359080 80360040 - HNRNPA1P12 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000220161 chr17 18411159 18414380 + LINC02076 lincRNA 400579 0 0 0 0 0 0 0 0 0 ENSG00000220181 chr6 154549517 154550242 + AL357075.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220184 chr6 121858179 121858768 - HMGB3P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220201 chr19 10304803 10309880 - ZGLP1 protein_coding 100125288 GO:0005634, nucleus, GO:0043565, GO:0008270, sequence-specific DNA binding, zinc ion binding, GO:0048599, GO:0048599, GO:0045944, GO:0007283, GO:0007283, GO:0007275, GO:0006357, GO:0000122, oocyte development, oocyte development, positive regulation of transcription by RNA polymerase II, spermatogenesis, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 3 5 4 7 5 9 3 9 1 ENSG00000220204 chr11 34404663 34404949 - AL035079.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220205 chr17 8159149 8163546 - VAMP2 protein_coding The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]. 6844 GO:0070083, GO:0070044, GO:0070033, GO:0070032, GO:0061202, GO:0060203, GO:0048471, GO:0045202, GO:0044306, GO:0043231, GO:0043005, GO:0042589, GO:0031982, GO:0031410, GO:0031201, GO:0031201, GO:0031201, GO:0030672, GO:0030672, GO:0030667, GO:0030667, GO:0030665, GO:0030141, GO:0030136, GO:0016020, GO:0008076, GO:0008021, GO:0008021, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005829, GO:0005802, clathrin-sculpted monoamine transport vesicle membrane, synaptobrevin 2-SNAP-25-syntaxin-1a complex, synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex, synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex, clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, clathrin-sculpted glutamate transport vesicle membrane, perinuclear region of cytoplasm, synapse, neuron projection terminus, intracellular membrane-bounded organelle, neuron projection, zymogen granule membrane, vesicle, cytoplasmic vesicle, SNARE complex, SNARE complex, SNARE complex, synaptic vesicle membrane, synaptic vesicle membrane, secretory granule membrane, secretory granule membrane, clathrin-coated vesicle membrane, secretory granule, clathrin-coated vesicle, membrane, voltage-gated potassium channel complex, synaptic vesicle, synaptic vesicle, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytosol, trans-Golgi network, GO:0048306, GO:0043621, GO:0019905, GO:0019905, GO:0019905, GO:0017075, GO:0017075, GO:0005543, GO:0005516, GO:0005515, GO:0005484, GO:0000149, calcium-dependent protein binding, protein self-association, syntaxin binding, syntaxin binding, syntaxin binding, syntaxin-1 binding, syntaxin-1 binding, phospholipid binding, calmodulin binding, protein binding, SNAP receptor activity, SNARE binding, GO:1903593, GO:1902259, GO:0090316, GO:0070254, GO:0065003, GO:0061025, GO:0061024, GO:0060627, GO:0060291, GO:0048488, GO:0043320, GO:0043312, GO:0043308, GO:0043001, GO:0035493, GO:0032869, GO:0017157, GO:0017156, GO:0016192, GO:0016079, GO:0016079, GO:0015031, GO:0014047, GO:0009749, GO:0007269, GO:0006906, GO:0006906, GO:0006892, GO:0006887, regulation of histamine secretion by mast cell, regulation of delayed rectifier potassium channel activity, positive regulation of intracellular protein transport, mucus secretion, protein-containing complex assembly, membrane fusion, membrane organization, regulation of vesicle-mediated transport, long-term synaptic potentiation, synaptic vesicle endocytosis, natural killer cell degranulation, neutrophil degranulation, eosinophil degranulation, Golgi to plasma membrane protein transport, SNARE complex assembly, cellular response to insulin stimulus, regulation of exocytosis, calcium-ion regulated exocytosis, vesicle-mediated transport, synaptic vesicle exocytosis, synaptic vesicle exocytosis, protein transport, glutamate secretion, response to glucose, neurotransmitter secretion, vesicle fusion, vesicle fusion, post-Golgi vesicle-mediated transport, exocytosis, 1802 2530 2154 2517 2885 3176 3256 2554 2739 ENSG00000220212 chr6 105919 106856 - OR4F1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220237 chr6 107229759 107230152 + RPS24P12 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000220240 chr6 86897547 86897683 + AL157777.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220248 chr22 16857619 16860718 - ZNF402P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220256 chr2 239762860 239802883 + AC093802.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000220267 chr6 88275882 88276989 - ACTBP8 processed_pseudogene 59 46 0 130 112 0 170 68 0 ENSG00000220291 chr6 85155667 85167749 + AL139806.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220305 chr6 159712801 159713985 - HNRNPH1P1 processed_pseudogene 9 9 6 10 19 16 14 8 22 ENSG00000220311 chr6 79964215 79964519 + RPL35AP18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220323 chr1 149842875 149846486 + HIST2H2BD transcribed_unprocessed_pseudogene 789 981 846 587 985 839 650 644 567 ENSG00000220326 chr6 121641009 121641221 - AL603865.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220340 chr6 91727282 91727505 - MTCO1P56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220343 chr3 167065831 167066320 + PPIAP74 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220347 chr6 156662050 156662437 + AL355297.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220349 chr6 36737050 36737986 + Z85996.1 processed_pseudogene 0 2 1 1 0 0 0 1 0 ENSG00000220370 chr6 94344737 94344962 + AL078595.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220377 chr6 52687930 52703825 - GSTA8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220378 chr6 134296997 134298695 - KRT8P42 processed_pseudogene 25 41 23 111 214 231 126 166 185 ENSG00000220392 chr6 111353702 111354183 + FCF1P5 processed_pseudogene 4 0 2 4 2 7 2 0 0 ENSG00000220412 chr6 137705423 137707201 - AL356234.1 processed_pseudogene 0 0 0 0 0 0 2 2 0 ENSG00000220418 chr6 89301783 89303114 + TUBB3P1 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000220446 chr6 5291030 5291388 - AL121978.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220447 chr6 121381472 121381860 + AL139098.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220472 chr6 7338839 7339568 - AL139095.2 processed_pseudogene 8 7 13 33 17 20 18 15 24 ENSG00000220483 chr6 65788417 65789287 + SLC25A51P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220494 chr6 147406889 147408281 + YAP1P1 processed_pseudogene 0 1 3 4 4 7 1 2 3 ENSG00000220505 chr6 98179499 98179832 - EIF4EBP2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220506 chr6 111494991 111495713 - AL136310.1 processed_pseudogene 1 4 3 4 2 3 2 4 2 ENSG00000220514 chr6 153668589 153668858 + MTND4LP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220515 chr6 73055097 73055857 + PGAM1P10 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000220517 chr6 25023247 25024483 - ASS1P1 processed_pseudogene 0 6 0 1 0 0 2 0 0 ENSG00000220522 chr6 127416535 127416952 - AL590002.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000220537 chr6 82263996 82264974 - AL121977.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220540 chr20 17188134 17188344 + AL359511.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220541 chrX 113522482 113522989 + AC233289.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220548 chr6 126602356 126603649 - VIM2P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220553 chr6 92013842 92014734 + RPL5P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220556 chr6 39039603 39039985 - AL035690.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220557 chr6 132868218 132868859 - HMGB1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220563 chr6 85659892 85660606 - PKMP3 processed_pseudogene 0 2 3 1 3 2 3 2 7 ENSG00000220575 chr7 155067067 155071557 - HTR5A-AS1 antisense 100128264 0 0 0 0 0 0 0 0 0 ENSG00000220581 chr6 27033435 27034310 - VN1R12P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220583 chr6 34263311 34263673 - RPL35P2 processed_pseudogene 0 2 8 1 1 3 1 1 4 ENSG00000220585 chr10 91053051 91055047 + DDX18P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220586 chr6 39934595 40000527 + TUBBP9 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220598 chr6 150384307 150385120 - SSR1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220600 chr6 138878899 138879407 - AL121834.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220614 chr6 43328134 43328476 + AL583834.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000220635 chr6 54770583 54771134 + KRASP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220643 chr6 34686602 34687106 + AL031577.2 processed_pseudogene 0 0 0 7 3 3 0 2 4 ENSG00000220660 chr6 136364129 136365079 + AL023284.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220666 chr6 56431950 56433213 - RCC2P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220685 chr6 5065795 5066982 - AL139094.1 processed_pseudogene 0 0 0 0 0 0 5 0 0 ENSG00000220694 chr6 127435636 127436189 + AL096711.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220695 chr6 100530276 100531052 + Z86062.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000220702 chr22 44365551 44366284 + Z85994.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000220721 chr6 28073316 28074260 + OR1F12 unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 442179 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 1 ENSG00000220725 chr6 55680642 55681021 - AL590290.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220730 chr6 75586122 75586461 + AL356057.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220733 chr6 153668177 153668362 + MTND3P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220734 chr6 35765908 35766927 + AL157823.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220739 chr6 144708106 144708497 - AL513475.2 processed_pseudogene 0 0 0 0 1 0 1 2 3 ENSG00000220744 chr6 127362513 127363403 + RPL5P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220745 chr6 152959359 152959605 - AL080276.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220748 chr6 23971879 23972941 + AL032822.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220749 chr1 212051524 212052006 - RPL21P28 processed_pseudogene 14 12 14 11 13 18 12 3 17 ENSG00000220758 chr6 27324894 27325768 + VN1R10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220771 chr6 21602128 21602383 + BOLA2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220773 chr6 54624605 54625488 + RPSAP44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220785 chr1 32231658 32241620 - MTMR9LP transcribed_unprocessed_pseudogene 1 3 6 19 20 59 27 12 33 ENSG00000220793 chr16 9156402 9156881 - RPL21P119 processed_pseudogene 0 0 0 0 0 3 0 1 1 ENSG00000220804 chr2 242088633 242160153 + LINC01881 transcribed_unprocessed_pseudogene 9 9 11 5 17 14 27 9 21 ENSG00000220831 chr6 86214237 86214576 - NDUFA5P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220842 chr10 120354701 120355183 - RPL21P16 processed_pseudogene 78 54 82 106 53 119 128 56 84 ENSG00000220848 chr6 149592687 149601878 + RPS18P9 transcribed_processed_pseudogene 34 48 44 23 48 53 29 25 39 ENSG00000220867 chr6 157924402 157924676 + HSPE1P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220868 chr6 13949095 13949666 + MRPL35P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220871 chr6 89797598 89797877 + DNAJC19P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220875 chr6 26321876 26322292 - HIST1H3PS1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000220884 chr6 128928995 128929988 - MESTP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220891 chr22 22559343 22566602 + LL22NC03-63E9.3 antisense 648691 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000220908 chr6 92723003 92723829 - LINC02531 lincRNA 0 0 1 0 1 0 3 0 0 ENSG00000220913 chr6 160905770 160913638 + AL391361.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220918 chr6 79854684 79855632 + AL132875.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220920 chr6 17953572 17953930 + AL023807.1 unprocessed_pseudogene 3 2 10 2 0 0 3 2 0 ENSG00000220924 chr4 112685055 112685503 + OSTCP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220925 chrX 70148582 70149654 - IGBP1-AS2 antisense 89 48 99 53 60 52 74 67 79 ENSG00000220937 chr9 4944670 4945902 - HNRNPA1P41 processed_pseudogene 1 1 0 0 0 0 0 0 1 ENSG00000220948 chr11 48975324 48983826 - TRIM51GP protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000220949 chr19 11756533 11759933 - AC008543.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220960 chr6 89059628 89060109 + AL079342.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000220986 chr5 69160806 69160939 + SNORA50D snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000220988 chr19 50802328 50802418 - SNORD88C snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221015 chr3 51611438 51611562 - RNU6ATAC29P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221017 chr19 53671968 53672040 + MIR1323 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302255 0 0 0 0 0 0 0 0 0 ENSG00000221023 chr2 181738606 181738715 + RNU6ATAC19P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221025 chr17 81133196 81133308 - MIR1250 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302229 16 30 37 2 16 6 20 12 2 ENSG00000221028 chr1 201808611 201808702 + MIR1231 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302158 0 0 0 0 0 0 0 0 0 ENSG00000221031 chr11 5224448 5224639 - RF00621 ribozyme 0 0 0 0 0 0 0 0 0 ENSG00000221033 chr15 64762387 64762515 - MIR1272 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302184 0 0 0 0 0 0 0 0 0 ENSG00000221036 chr14 101030052 101030129 + MIR1193 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422837 0 0 0 0 0 0 0 0 0 ENSG00000221038 chr17 31563768 31563894 - RNU6ATAC7P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221039 chr22 20249134 20249211 - MIR1286 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302118 0 0 0 0 0 0 0 0 0 ENSG00000221040 chr1 116278606 116278821 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221042 chr10 92204229 92204306 - RF00622 ribozyme 0 0 0 0 0 0 0 0 0 ENSG00000221043 chr5 149695748 149695959 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221044 chr17 44025020 44025223 - RF00012 snoRNA 3 1 2 0 0 0 2 0 0 ENSG00000221046 chr20 45778698 45778823 + RNU6ATAC38P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000221052 chr15 52277117 52277200 - MIR1266 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302202 0 0 0 0 0 0 0 0 0 ENSG00000221055 chr2 113582959 113583096 - MIR1302-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302128 0 0 0 0 0 0 0 0 0 ENSG00000221059 chr3 87910220 87910345 + RNU6ATAC6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221060 chr14 69804203 69804331 - RF00614 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221063 chr10 63372957 63373048 - MIR1296 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302150 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 1 0 0 ENSG00000221065 chr15 34528290 34528371 - MIR1233-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422845 0 0 0 0 0 0 0 0 0 ENSG00000221066 chr16 70538005 70538098 + SNORD111 snoRNA 692214 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 0 0 0 0 0 0 ENSG00000221081 chrX 140926172 140926219 - MIR320D2 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000221083 chr1 8511795 8511919 - RF00599 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221091 chr20 50614636 50614785 - MIR1302-5 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302146 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221093 chr8 56121242 56121352 - RF00334 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221102 chr14 91126425 91126553 + SNORA11B snoRNA 100124539 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 1 3 0 2 2 0 0 1 ENSG00000221114 chr14 49684544 49684665 + RNU6ATAC30P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221116 chr20 2654212 2654286 + SNORD110 snoRNA 692213 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000221120 chr3 184241405 184241489 + MIR1224 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100187716 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1903672, GO:0045746, GO:0035195, GO:0035195, GO:0030949, positive regulation of sprouting angiogenesis, negative regulation of Notch signaling pathway, gene silencing by miRNA, gene silencing by miRNA, positive regulation of vascular endothelial growth factor receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221125 chr19 49949316 49949527 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221139 chr18 21450653 21450756 - RF00603 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221148 chr12 84183324 84183448 - RF00334 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221164 chr10 73126080 73126207 - SNORA11F snoRNA 109617000 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 3 2 0 2 3 2 1 7 ENSG00000221176 chr8 128049152 128049238 + MIR1207 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302175 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221184 chr10 68759318 68759414 + MIR1254-1 miRNA 5 6 8 5 6 8 3 2 5 ENSG00000221187 chrX 95063141 95063226 - MIR548M miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313772 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221190 chrX 155383100 155383198 - MIR1184-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422985 3 0 0 0 0 0 0 0 0 ENSG00000221200 chr17 2748078 2748182 - MIR1253 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302208 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221203 chr1 68183518 68183610 - MIR1262 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302279 1 0 0 0 0 0 0 0 0 ENSG00000221206 chr3 110551845 110551965 - RNU6ATAC15P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221214 chr10 110988926 110989013 + MIR548E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313921 1 4 1 1 3 3 1 0 1 ENSG00000221216 chr1 28481362 28481480 + RNU6ATAC27P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221227 chr4 182169293 182169378 + MIR1305 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302270 0 0 0 0 0 0 0 0 0 ENSG00000221230 chr11 94466495 94466580 - MIR548L miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302275 0 0 0 0 0 0 0 0 0 ENSG00000221238 chr2 70252918 70253005 - MIR1285-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302268 0 0 0 0 0 0 0 0 0 ENSG00000221240 chr2 179860836 179860908 - MIR1258 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302172 0 0 0 0 0 0 0 0 0 ENSG00000221241 chr19 50799442 50799532 - SNORD88A snoRNA 692202 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 1 0 0 0 0 0 ENSG00000221245 chr4 119569699 119569825 + RF00614 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221251 chr3 164171471 164171556 - MIR1263 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302148 0 0 0 0 0 0 0 0 0 ENSG00000221255 chr2 7576841 7576971 + RNU6ATAC37P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221261 chr8 128150116 128150188 + MIR1208 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302281 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221263 chr5 100816482 100816565 - MIR548P miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302288 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0045717, GO:0045541, GO:0035195, GO:0010868, negative regulation of fatty acid biosynthetic process, negative regulation of cholesterol biosynthetic process, gene silencing by miRNA, negative regulation of triglyceride biosynthetic process, 1 2 0 0 3 0 5 1 4 ENSG00000221264 chr3 71541970 71542089 - MIR1284 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302112 0 0 0 0 0 8 2 0 0 ENSG00000221265 chr4 101330302 101330414 - MIR1255A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302193 0 0 2 0 0 0 0 1 0 ENSG00000221269 chr9 97363554 97363681 - MIR1302-8 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302223 0 0 0 0 0 0 0 0 0 ENSG00000221273 chr11 64368602 64368703 + MIR1237 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302280 GO:0035195, gene silencing by miRNA, 0 0 0 0 1 0 0 0 0 ENSG00000221275 chr4 9556168 9556316 - MIR548I2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302277 0 0 0 0 0 0 0 0 0 ENSG00000221287 chr5 133427596 133427706 - MIR1289-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302134 0 0 0 0 0 0 0 0 0 ENSG00000221288 chr2 132256966 132257080 - MIR663B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313824 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221296 chr4 173268160 173268233 + MIR548T miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422849 0 0 0 0 0 0 0 0 0 ENSG00000221300 chr2 42440377 42440436 + RF00612 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221303 chr14 81202695 81202834 - SNORA79 snoRNA 677845 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 0 0 4 1 0 0 1 ENSG00000221305 chr8 8088941 8089089 - MIR548I3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302186 0 0 0 0 0 0 0 0 0 ENSG00000221325 chr7 36919357 36919432 - MIR1200 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302113 0 0 1 2 8 0 0 0 0 ENSG00000221331 chr10 12725254 12725353 - MIR548Q miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313841 0 0 0 1 6 0 1 0 0 ENSG00000221332 chr6 75398860 75399067 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221333 chr11 70283955 70284070 + MIR548K miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313770 0 2 0 1 4 0 0 2 0 ENSG00000221340 chr1 12569972 12570072 - RNU6ATAC18P snRNA 0 0 3 0 0 0 0 0 0 ENSG00000221345 chr6 71126893 71127105 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221348 chrX 32641474 32641559 - MIR548F5 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302239 0 0 0 0 0 0 0 0 0 ENSG00000221355 chr17 16282014 16282088 + MIR1288 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302124 0 0 0 0 0 0 0 0 0 ENSG00000221363 chr18 22130603 22130729 - RNU6ATAC20P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221365 chr12 57194504 57194576 + MIR1228 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302201 0 0 0 0 0 0 0 0 0 ENSG00000221369 chr4 147344629 147344717 - MIR548G miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313938 0 0 0 0 0 0 0 0 0 ENSG00000221371 chr10 14436576 14436661 + MIR1265 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302116 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221375 chrX 139885481 139885603 + RNU6ATAC23P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221381 chr19 50799032 50799122 - SNORD88B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221387 chr8 102421197 102421322 + RNU6ATAC8P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221390 chr1 171101728 171101806 - MIR1295A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302178 0 0 0 0 0 0 0 0 0 ENSG00000221393 chr7 18127220 18127309 - MIR1302-6 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302140 0 0 0 0 0 0 0 0 0 ENSG00000221394 chr5 179798278 179798346 - MIR1229 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302156 0 0 0 0 0 0 0 0 0 ENSG00000221398 chr21 34456110 34456237 - RF00614 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221400 chr10 43417249 43417438 - SNORD3J snoRNA 109616985 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 7 ENSG00000221406 chr1 224257004 224257141 - MIR320B2 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000221410 chr19 10552122 10552204 + MIR1238 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302226 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000221411 chr19 2234062 2234149 - MIR1227 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302283 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221420 chr3 186786675 186786852 + SNORA81 snoRNA Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]. 677847 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000221421 chr19 53688481 53688567 + MIR1283-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302265 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221430 chr5 154347106 154347247 + MIR1294 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302181 0 0 1 0 0 0 0 0 0 ENSG00000221436 chr5 110513829 110513915 - MIR548F3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302159 0 0 0 0 0 0 0 0 0 ENSG00000221439 chr12 781133 781258 + RNU4ATAC16P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221440 chr4 88206427 88206552 - RNU6ATAC31P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221442 chr7 147378017 147378121 - MIR548F4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313895 0 0 0 0 0 0 0 0 0 ENSG00000221445 chr2 25328640 25328721 - MIR1301 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302246 GO:0005615, extracellular space, 1 0 1 0 4 0 0 0 1 ENSG00000221455 chr6 92790453 92790665 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221456 chr6 155946797 155946879 + MIR1202 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302259 0 0 0 0 0 0 0 0 0 ENSG00000221459 chrX 47388649 47388777 + SNORA11C snoRNA 100124540 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000221461 chr8 123180310 123180525 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221463 chrX 118386394 118386471 + MIR1277 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302214 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221464 chr5 176367946 176368031 + MIR1271 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302203 0 0 0 0 0 0 0 0 0 ENSG00000221466 chrX 38023895 38023986 - MIR548AJ2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616252 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221468 chr10 43341786 43341910 + RNU6ATAC11P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221475 chrX 52190621 52190748 + SNORA11D snoRNA 100124541 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000221476 chr12 100189884 100189949 + MIR1827 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302217 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221479 chr12 97491909 97491978 + MIR1251 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302289 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221491 chr12 48654382 48654518 - SNORA2C snoRNA 677815 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000221493 chr18 21683510 21683597 + MIR320C1 miRNA 5 1 3 1 1 4 2 0 3 ENSG00000221494 chrX 84225752 84225828 - MIR548I4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302191 0 0 0 0 0 0 0 0 0 ENSG00000221496 chr17 44303965 44304203 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221498 chr2 183064235 183064346 - RF00599 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221500 chr6 132816802 132816877 + SNORD100 snoRNA 594838 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 0 0 4 3 27 8 0 3 ENSG00000221502 chr2 188978092 188978161 + MIR1245A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302219 0 0 0 0 0 0 0 0 0 ENSG00000221507 chr7 144451681 144451817 + RNU6ATAC40P snRNA 0 0 2 1 2 0 0 0 0 ENSG00000221510 chr7 102405742 102405855 - MIR548O miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313829 GO:0005615, extracellular space, 2 5 4 0 3 5 1 0 3 ENSG00000221514 chr16 70529509 70529588 + SNORD111B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221518 chr3 52560570 52560707 + RNU6ATAC16P snRNA 1 0 0 0 2 0 4 0 2 ENSG00000221520 chr7 92204015 92204098 - MIR1285-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302218 0 1 0 0 0 0 0 0 0 ENSG00000221525 chr14 101042977 101043062 + MIR1185-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302157 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221527 chr8 100739802 100739927 - RNU6ATAC41P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221533 chrX 154887360 154887458 - MIR1184-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302111 38 51 1 17 32 0 29 17 0 ENSG00000221537 chr14 64095024 64095125 - MIR548H1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313830 1 0 0 4 2 4 0 0 0 ENSG00000221539 chr1 28578749 28578822 - SNORD99 snoRNA 692212 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 3 10 16 10 4 2 3 ENSG00000221540 chr17 19344506 19344574 - MIR1180 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302256 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221545 chr1 167998660 167998726 + MIR1255B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313835 0 0 0 0 0 0 0 0 0 ENSG00000221548 chr19 53758232 53758318 + MIR1283-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302205 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221552 chr5 154685776 154685861 + MIR1303 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302284 0 0 0 0 0 0 0 0 0 ENSG00000221562 chr5 129974891 129975001 + RNU6ATAC10P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221563 chr4 66276824 66276928 + MIR1269A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302177 0 0 0 0 0 0 0 0 0 ENSG00000221564 chr12 64939023 64939117 + RNU6ATAC42P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221571 chr1 220825620 220826063 + RNU6ATAC35P lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000221574 chr11 10399192 10399317 - RNU6ATAC33P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221583 chr6 10222036 10222161 + RNU6ATAC21P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221585 chr3 47849555 47849629 + MIR1226 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302232 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221586 chr11 90869121 90869202 - MIR1261 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302228 0 0 0 0 0 0 0 0 0 ENSG00000221594 chr10 54607874 54607957 - MIR548F1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302192 0 0 0 0 0 0 0 0 0 ENSG00000221598 chr22 45200954 45201019 - MIR1249 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302149 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 1 0 2 0 0 0 0 0 2 ENSG00000221601 chr5 159318042 159318167 + RNU4ATAC2P snRNA 0 2 0 0 0 0 0 0 0 ENSG00000221603 chrX 155457517 155457615 + MIR1184-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422977 0 1 1 0 1 0 0 0 0 ENSG00000221604 chr12 50234142 50234212 - MIR1293 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302220 0 0 0 0 0 0 0 0 0 ENSG00000221611 chr12 12972053 12972143 + RF00604 snoRNA 0 0 0 0 0 0 0 0 2 ENSG00000221614 chr14 101044198 101044283 + MIR1185-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302209 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221616 chr8 27048853 27048963 - MIR548H4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313884 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221628 chr2 207269275 207269424 - MIR1302-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302130 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 2 0 0 ENSG00000221630 chr15 88608107 88608197 + MIR1179 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302235 0 0 0 0 0 0 0 0 0 ENSG00000221633 chr3 109018909 109019116 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221634 chr15 85770496 85770578 - MIR1276 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302121 0 0 0 0 0 0 0 0 0 ENSG00000221638 chr2 75627950 75628168 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221639 chr4 73263960 73264084 + RF00334 snoRNA 0 0 2 0 2 0 3 1 1 ENSG00000221641 chr15 22225278 22225329 - MIR1268A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302233 0 0 0 0 0 0 0 0 0 ENSG00000221643 chr1 203729581 203729705 + SNORA77 snoRNA 677843 GO:0005730, nucleolus, GO:0006396, RNA processing, 9 9 5 3 7 4 0 6 6 ENSG00000221649 chr15 34382069 34382150 - MIR1233-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302160 0 0 0 0 0 0 0 0 0 ENSG00000221650 chr13 107531171 107531248 - MIR1267 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302286 0 0 0 0 0 0 0 0 0 ENSG00000221656 chr16 2090195 2090284 - MIR1225 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100188847 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221662 chr1 18897071 18897148 - MIR1290 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302276 GO:0070062, extracellular exosome, GO:0030335, GO:0008284, positive regulation of cell migration, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000221669 chr7 34940760 34940834 - MIR548N miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302152 0 0 0 0 0 0 0 0 0 ENSG00000221673 chr1 219962652 219962865 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221676 chr9 134164439 134164564 - RNU6ATAC snRNA 100151684 GO:0005691, U6atac snRNP, GO:0030627, GO:0030622, pre-mRNA 5'-splice site binding, U4atac snRNA binding, GO:0000395, GO:0000244, mRNA 5'-splice site recognition, spliceosomal tri-snRNP complex assembly, 0 0 0 1 0 1 2 3 1 ENSG00000221680 chr1 193136503 193136583 + MIR1278 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302163 0 0 0 0 2 0 0 0 0 ENSG00000221697 chr6 33999972 34000051 - MIR1275 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302123 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221698 chr17 13543529 13543646 - MIR548H3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302287 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221703 chr11 7234766 7234837 + MIR302E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313774 0 0 0 0 0 0 0 0 0 ENSG00000221705 chrX 52063347 52063474 - SNORA11E snoRNA 101340250 0 0 0 0 0 0 0 0 0 ENSG00000221710 chrX 114715233 114715344 + MIR1298 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302153 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1904753, GO:1904706, GO:0061044, GO:0060354, GO:0036120, GO:0035195, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular wound healing, negative regulation of cell adhesion molecule production, cellular response to platelet-derived growth factor stimulus, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221711 chr4 77702746 77702803 - RF00612 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221716 chrX 54814370 54814497 + SNORA11 snoRNA Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]. 677799 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 0 0 1 0 0 1 0 ENSG00000221719 chr16 2796408 2796532 - SNORA3C snoRNA 109616997 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 0 0 0 0 0 0 0 ENSG00000221725 chr16 70852698 70852814 + RNU6ATAC25P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000221737 chr3 125790404 125790552 - MIR548I1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302204 0 0 0 0 0 0 0 0 0 ENSG00000221739 chr17 48156427 48156511 - MIR1203 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302211 GO:1903561, extracellular vesicle, 0 0 0 0 1 0 0 0 0 ENSG00000221740 chr7 22856613 22856686 + SNORD93 snoRNA 692210 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000221745 chr14 101025564 101025651 + MIR1197 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302250 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221750 chrX 54927305 54927433 + RF00614 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000221753 chr8 100023982 100024084 - MIR1273A miRNA 0 0 0 0 0 0 0 0 0 ENSG00000221754 chr14 77266218 77266290 + MIR1260A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302236 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000221760 chr22 26555212 26555323 - MIR548J miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313914 0 0 0 0 0 0 0 0 0 ENSG00000221763 chr20 35453954 35454097 - MIR1289-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302125 0 0 0 0 0 0 0 0 0 ENSG00000221768 chr8 141786242 141786313 - MIR1302-7 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302147 0 0 0 0 0 0 0 0 0 ENSG00000221771 chr8 127960633 127960695 + MIR1205 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302161 0 0 0 0 0 0 0 0 0 ENSG00000221782 chr2 212426263 212426360 - MIR548F2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313771 0 0 0 0 0 0 0 0 0 ENSG00000221783 chr7 21471058 21471146 + MIR1183 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302122 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 1 0 0 0 ENSG00000221788 chr12 79419257 79419321 + MIR1252 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302136 0 0 0 0 0 0 0 0 0 ENSG00000221792 chr15 43793659 43793759 - MIR1282 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302254 1024 949 1230 1026 1268 1228 1104 1125 1076 ENSG00000221801 chr16 11306440 11306527 - MIR548H2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313773 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000221803 chr19 47755853 47755962 + SNORD23 snoRNA 692091 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000221806 chr20 18611047 18611167 - RNU6ATAC34P snRNA 0 0 0 0 0 0 0 0 2 ENSG00000221808 chr1 20988314 20988432 - MIR1256 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302155 0 0 0 0 0 0 0 0 0 ENSG00000221813 chr7 144000320 144008793 + OR6B1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 135946 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221817 chr10 73495525 73520070 + PPP3CB-AS1 processed_transcript 101929145 39 30 38 45 35 28 42 15 29 ENSG00000221818 chr8 25841730 26045397 - EBF2 protein_coding The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]. 64641 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046983, GO:0046872, GO:0005515, GO:0003682, GO:0000981, GO:0000981, GO:0000978, GO:0000978, protein dimerization activity, metal ion binding, protein binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0120162, GO:0060612, GO:0050873, GO:0035563, GO:0006357, GO:0001709, positive regulation of cold-induced thermogenesis, adipose tissue development, brown fat cell differentiation, positive regulation of chromatin binding, regulation of transcription by RNA polymerase II, cell fate determination, 0 0 0 1 0 0 0 0 0 ENSG00000221819 chr16 90028908 90029901 - GAS8-AS1 antisense This gene encodes a long non-coding RNA (lncRNA) that may function as a tumor suppressor. Mutations in this gene have been identified in human papillary thyroid carcinoma (PTC) patients that abrogate the ability of encoded lncRNA to inhibit cancer cell growth. [provided by RefSeq, May 2017]. 750 0 0 1 0 0 0 2 0 0 ENSG00000221821 chr6 42890265 42890816 - C6orf226 protein_coding 441150 GO:0005515, protein binding, 20 21 17 16 7 23 6 13 21 ENSG00000221823 chr2 68178857 68256237 - PPP3R1 protein_coding 5534 GO:0042383, GO:0005955, GO:0005955, GO:0005829, GO:0005739, GO:0005654, sarcolemma, calcineurin complex, calcineurin complex, cytosol, mitochondrion, nucleoplasm, GO:0019904, GO:0019902, GO:0016018, GO:0005516, GO:0005515, GO:0005509, GO:0004723, protein domain specific binding, phosphatase binding, cyclosporin A binding, calmodulin binding, protein binding, calcium ion binding, calcium-dependent protein serine/threonine phosphatase activity, GO:1900740, GO:0045944, GO:0038095, GO:0033173, GO:0007223, GO:0006470, positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway, positive regulation of transcription by RNA polymerase II, Fc-epsilon receptor signaling pathway, calcineurin-NFAT signaling cascade, Wnt signaling pathway, calcium modulating pathway, protein dephosphorylation, 1962 1766 2347 940 1610 1524 1197 1387 1243 ENSG00000221826 chr19 42721638 42740569 - PSG3 protein_coding The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]. 5671 GO:0005576, extracellular region, GO:0007565, GO:0006952, female pregnancy, defense response, 0 0 0 0 0 0 0 0 0 ENSG00000221829 chr9 35073835 35080016 - FANCG protein_coding The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]. 2189 GO:0043240, GO:0043240, GO:0005886, GO:0005829, GO:0005739, GO:0005730, GO:0005654, Fanconi anaemia nuclear complex, Fanconi anaemia nuclear complex, plasma membrane, cytosol, mitochondrion, nucleolus, nucleoplasm, GO:0005515, GO:0003684, protein binding, damaged DNA binding, GO:0036297, GO:0009314, GO:0007286, GO:0007005, GO:0006974, GO:0006281, GO:0001541, interstrand cross-link repair, response to radiation, spermatid development, mitochondrion organization, cellular response to DNA damage stimulus, DNA repair, ovarian follicle development, 21 24 21 58 50 61 49 35 16 ENSG00000221836 chr7 144048948 144058845 + OR2A5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 393046 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 2 0 ENSG00000221837 chr21 44627123 44628293 + KRTAP10-9 protein_coding 386676 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 2 0 0 0 0 ENSG00000221838 chr7 100101549 100110345 + AP4M1 protein_coding This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]. 9179 GO:0070062, GO:0043231, GO:0032588, GO:0031904, GO:0031410, GO:0030131, GO:0030124, GO:0005829, GO:0005802, GO:0005802, GO:0005769, extracellular exosome, intracellular membrane-bounded organelle, trans-Golgi network membrane, endosome lumen, cytoplasmic vesicle, clathrin adaptor complex, AP-4 adaptor complex, cytosol, trans-Golgi network, trans-Golgi network, early endosome, GO:0019904, GO:0005515, protein domain specific binding, protein binding, GO:1903361, GO:0090160, GO:0090160, GO:0016192, GO:0008104, GO:0006895, GO:0006886, GO:0006622, GO:0006605, GO:0006605, protein localization to basolateral plasma membrane, Golgi to lysosome transport, Golgi to lysosome transport, vesicle-mediated transport, protein localization, Golgi to endosome transport, intracellular protein transport, protein targeting to lysosome, protein targeting, protein targeting, 88 113 153 89 156 93 95 89 90 ENSG00000221840 chr11 54706832 54707902 + OR4A5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81318 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221843 chr2 27537386 27582721 + C2orf16 protein_coding 84226 GO:0070062, GO:0005634, extracellular exosome, nucleus, 10 18 9 6 4 6 4 10 3 ENSG00000221844 chr9 73474378 73476073 - DPP3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000221845 chr7 47655244 47661648 + C7orf65 lincRNA 401335 0 0 0 0 0 0 0 0 0 ENSG00000221849 chr2 103527620 103529261 + AC018880.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000221852 chr17 41026026 41027202 - KRTAP1-5 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 83895 GO:0045095, GO:0005829, GO:0005575, keratin filament, cytosol, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0031424, GO:0008150, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000221855 chr7 143477873 143478796 + TAS2R41 protein_coding This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. Chloramphenicol is an agonist for the encoded protein. [provided by RefSeq, Jul 2017]. 259287 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0005515, GO:0004930, bitter taste receptor activity, protein binding, G protein-coupled receptor activity, GO:0007186, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 1 ENSG00000221857 chr19 35138824 35151336 + AC020907.2 processed_transcript 0 0 3 0 0 0 0 0 0 ENSG00000221858 chr7 144086278 144098953 + OR2A12 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 346525 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221859 chr21 44637356 44638455 + KRTAP10-10 protein_coding 353333 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 1 0 0 0 0 ENSG00000221864 chr21 44666189 44666927 - KRTAP12-2 protein_coding 353323 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000221866 chr7 132123332 132648688 - PLXNA4 protein_coding 91584 GO:0005887, GO:0005886, GO:0002116, GO:0002116, integral component of plasma membrane, plasma membrane, semaphorin receptor complex, semaphorin receptor complex, GO:0017154, semaphorin receptor activity, GO:1902287, GO:0071526, GO:0050923, GO:0050772, GO:0048841, GO:0048485, GO:0043087, GO:0030334, GO:0021960, GO:0021793, GO:0021784, GO:0021644, GO:0021637, GO:0021615, GO:0021612, GO:0008360, GO:0007162, semaphorin-plexin signaling pathway involved in axon guidance, semaphorin-plexin signaling pathway, regulation of negative chemotaxis, positive regulation of axonogenesis, regulation of axon extension involved in axon guidance, sympathetic nervous system development, regulation of GTPase activity, regulation of cell migration, anterior commissure morphogenesis, chemorepulsion of branchiomotor axon, postganglionic parasympathetic fiber development, vagus nerve morphogenesis, trigeminal nerve structural organization, glossopharyngeal nerve morphogenesis, facial nerve structural organization, regulation of cell shape, negative regulation of cell adhesion, 3 6 5 5 6 8 18 6 0 ENSG00000221867 chrX 152698752 152702347 + MAGEA3 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]. 4102 GO:0005783, endoplasmic reticulum, GO:0089720, GO:0005515, caspase binding, protein binding, GO:1902236, GO:0043154, GO:0010955, negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of protein processing, 0 0 0 0 0 0 0 0 0 ENSG00000221869 chr8 47736909 47739086 - CEBPD protein_coding The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010]. 1052 GO:0005654, GO:0005654, GO:0000785, GO:0000785, nucleoplasm, nucleoplasm, chromatin, chromatin, GO:1990837, GO:0042802, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, identical protein binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0048839, GO:0045944, GO:0045892, GO:0045669, GO:0045595, GO:0045444, GO:0019221, GO:0006366, GO:0006357, GO:0002244, inner ear development, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, positive regulation of osteoblast differentiation, regulation of cell differentiation, fat cell differentiation, cytokine-mediated signaling pathway, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, hematopoietic progenitor cell differentiation, 3334 3321 2968 1595 5001 3354 2096 5237 3720 ENSG00000221874 chr19 52928475 52962823 - ZNF816-ZNF321P protein_coding This locus represents naturally occurring read-through transcription between the zinc finger protein 816 (ZNF816) gene and the zinc finger protein 321 (ZNF321) pseudogene on chromosome 19. The read-through transcript encodes a KRAB domain-containing protein that shares sequence identity with the upstream gene product, but it contains a distinct C-terminus encoded by exon structure from the downstream pseudogene. [provided by RefSeq, Jan 2011]. 100529240 0 0 0 0 0 0 0 0 0 ENSG00000221878 chr19 42924132 42937178 - PSG7 protein_coding This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 5676 GO:0005576, extracellular region, GO:0007565, female pregnancy, 0 0 0 2 0 0 0 0 0 ENSG00000221879 chr1 197363817 197364078 + MRPS21P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000221880 chr17 41033884 41034855 - KRTAP1-3 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 81850 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0030280, structural constituent of skin epidermis, GO:0031424, GO:0008150, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000221882 chr17 3276942 3386317 - OR3A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 4995 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0004984, GO:0004930, signaling receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007606, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, sensory perception of chemical stimulus, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 5 0 0 0 0 0 ENSG00000221883 chr3 48917782 48919385 - ARIH2OS protein_coding 91 76 96 44 28 35 43 31 40 ENSG00000221886 chr5 160393148 160400097 - ZBED8 protein_coding 63920 GO:0005654, nucleoplasm, GO:0005515, protein binding, 1 0 3 0 1 3 0 0 0 ENSG00000221887 chr18 63949301 63981774 + HMSD protein_coding This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]. 284293 GO:0005615, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, GO:0002253, negative regulation of endopeptidase activity, activation of immune response, 0 0 1 0 0 0 0 0 0 ENSG00000221888 chr1 247754846 247760556 - OR1C1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26188 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004984, GO:0004930, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221890 chr22 38818452 38843982 - NPTXR protein_coding This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]. 23467 GO:0098978, GO:0016021, glutamatergic synapse, integral component of membrane, GO:0046872, metal ion binding, GO:0098962, regulation of postsynaptic neurotransmitter receptor activity, 18 6 16 30 7 23 39 3 22 ENSG00000221891 chr4 164929494 164929951 - FAM218BP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000221900 chr7 53035642 53036924 + POM121L12 protein_coding 285877 GO:0005643, nuclear pore, GO:0017056, GO:0008139, structural constituent of nuclear pore, nuclear localization sequence binding, GO:0006606, GO:0006405, protein import into nucleus, RNA export from nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000221909 chr7 99546308 99558536 - FAM200A protein_coding This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse. [provided by RefSeq, Jul 2008]. 221786 GO:0016021, integral component of membrane, GO:0005515, protein binding, 77 81 82 50 68 52 52 48 40 ENSG00000221910 chr7 143935166 143936279 + OR2F2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 135948 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221914 chr8 26291491 26372680 + PPP2R2A protein_coding The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]. 5520 GO:0098978, GO:0005829, GO:0005829, GO:0005654, GO:0000159, GO:0000159, glutamatergic synapse, cytosol, cytosol, nucleoplasm, protein phosphatase type 2A complex, protein phosphatase type 2A complex, GO:0051721, GO:0048156, GO:0044877, GO:0019888, GO:0019888, GO:0019888, GO:0005515, protein phosphatase 2A binding, tau protein binding, protein-containing complex binding, protein phosphatase regulator activity, protein phosphatase regulator activity, protein phosphatase regulator activity, protein binding, GO:0070262, GO:0043666, GO:0043278, GO:0007084, GO:0006470, GO:0000184, GO:0000086, peptidyl-serine dephosphorylation, regulation of phosphoprotein phosphatase activity, response to morphine, mitotic nuclear envelope reassembly, protein dephosphorylation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, G2/M transition of mitotic cell cycle, 1229 1209 1747 1068 1240 1425 1028 797 890 ENSG00000221916 chr19 49118397 49119140 - C19orf73 protein_coding 55150 GO:0005515, protein binding, 1 0 0 0 0 0 2 0 0 ENSG00000221923 chr19 52369917 52385795 + ZNF880 protein_coding 400713 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 16 3 13 31 9 19 24 7 2 ENSG00000221926 chr17 15627960 15684311 - TRIM16 protein_coding The protein encoded by this gene is a tripartite motif (TRIM) family member that contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. While it lacks a RING domain found in other TRIM proteins, the encoded protein can homodimerize or heterodimerize with other TRIM proteins and has E3 ubiquitin ligase activity. This gene is also a tumor suppressor and is involved in secretory autophagy. [provided by RefSeq, Jan 2017]. 10626 GO:0016605, GO:0005886, GO:0005829, GO:0005737, PML body, plasma membrane, cytosol, cytoplasm, GO:0032089, GO:0019966, GO:0016740, GO:0008270, GO:0005515, GO:0003677, NACHT domain binding, interleukin-1 binding, transferase activity, zinc ion binding, protein binding, DNA binding, GO:0060416, GO:0048386, GO:0046683, GO:0045893, GO:0045618, GO:0043967, GO:0043966, GO:0032731, GO:0032526, response to growth hormone, positive regulation of retinoic acid receptor signaling pathway, response to organophosphorus, positive regulation of transcription, DNA-templated, positive regulation of keratinocyte differentiation, histone H4 acetylation, histone H3 acetylation, positive regulation of interleukin-1 beta production, response to retinoic acid, 2 2 1 12 0 5 4 0 4 ENSG00000221930 chrX 130494965 130496588 + FAM45BP transcribed_processed_pseudogene 80 81 67 41 53 39 51 88 53 ENSG00000221931 chr11 123753488 123754545 - OR6X1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390260 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221932 chr11 124919244 124920677 + HEPN1 protein_coding This gene is expressed predominantly in the liver. Transient transfection studies show the expression of this gene significantly inhibits cell growth, suggesting a role for this gene in apoptosis. Expression of this gene is down-regulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). This gene maps to the 3'-noncoding region of the HEPACAM gene (GeneID:220296) on the antisense strand. [provided by RefSeq, Aug 2020]. 641654 0 0 0 0 0 0 0 0 0 ENSG00000221933 chr7 144069811 144075870 + OR2A25 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 392138 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221937 chr7 143222037 143223079 + TAS2R40 protein_coding This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. A decrease in the expression of this gene is associated with hypogeusia. [provided by RefSeq, Jul 2017]. 259286 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 54 38 41 22 17 38 31 25 27 ENSG00000221938 chr7 144123176 144131188 + OR2A14 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 135941 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221944 chr2 232547970 232550592 - TIGD1 protein_coding The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]. 200765 GO:0005634, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, 14 22 29 40 42 40 45 56 38 ENSG00000221946 chr19 35143250 35154301 + FXYD7 protein_coding This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]. 53822 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0099106, GO:0051117, GO:0017080, GO:0005515, ion channel regulator activity, ATPase binding, sodium channel regulator activity, protein binding, GO:2000649, GO:1903779, GO:0034220, regulation of sodium ion transmembrane transporter activity, regulation of cardiac conduction, ion transmembrane transport, 2 3 10 7 4 6 9 2 7 ENSG00000221947 chr8 70669365 70790371 + XKR9 protein_coding 389668 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:1902742, GO:0070782, GO:0043652, apoptotic process involved in development, phosphatidylserine exposure on apoptotic cell surface, engulfment of apoptotic cell, 0 0 0 0 0 0 0 0 4 ENSG00000221949 chr12 62601751 62603690 - LINC01465 lincRNA 6 4 6 9 11 43 24 12 34 ENSG00000221953 chr1 247110160 247112417 - C1orf229 lincRNA 388759 0 0 0 0 0 0 0 0 0 ENSG00000221954 chr11 49981473 49982535 - OR4C12 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 283093 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221955 chr3 125082636 125212864 - SLC12A8 protein_coding This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]. 84561 GO:0016021, integral component of membrane, GO:0015379, GO:0005515, potassium:chloride symporter activity, protein binding, GO:1990573, GO:1902476, GO:0055075, GO:0055064, GO:0006884, potassium ion import across plasma membrane, chloride transmembrane transport, potassium ion homeostasis, chloride ion homeostasis, cell volume homeostasis, 0 0 0 0 2 7 0 2 0 ENSG00000221957 chr19 54832676 54848569 + KIR2DS4 polymorphic_pseudogene Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]. 3809 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0023029, GO:0005515, MHC class Ib protein binding, protein binding, GO:0045087, innate immune response, 0 0 0 0 0 0 0 0 0 ENSG00000221962 chr3 152339695 152340990 - TMEM14EP transcribed_processed_pseudogene 645843 GO:0031966, GO:0016021, GO:0005743, mitochondrial membrane, integral component of membrane, mitochondrial inner membrane, GO:0006839, mitochondrial transport, 5 6 4 0 8 13 3 6 14 ENSG00000221963 chr22 35648395 35668409 + APOL6 protein_coding This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]. 80830 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0008289, GO:0005515, lipid binding, protein binding, GO:0042157, GO:0006869, lipoprotein metabolic process, lipid transport, 1396 1480 2032 940 994 1449 1218 857 1189 ENSG00000221968 chr11 61873519 61892051 - FADS3 protein_coding The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]. 3995 GO:0016021, GO:0016020, GO:0005789, integral component of membrane, membrane, endoplasmic reticulum membrane, GO:0016491, GO:0005515, GO:0003674, oxidoreductase activity, protein binding, molecular_function, GO:0055114, GO:0006665, GO:0006636, GO:0006636, oxidation-reduction process, sphingolipid metabolic process, unsaturated fatty acid biosynthetic process, unsaturated fatty acid biosynthetic process, 50 34 91 30 50 72 33 38 53 ENSG00000221970 chr7 144312464 144322668 + OR2A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 346528 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 3 0 0 8 0 2 0 1 4 ENSG00000221971 chr7 45999621 46000778 - TTC4P1 processed_pseudogene 0 0 0 2 0 0 0 0 6 ENSG00000221977 chr14 21653835 21667642 + OR4E2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26686 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221978 chr1 1385711 1399328 - CCNL2 protein_coding The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. 81669 GO:0043231, GO:0016607, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, nuclear speck, nucleoplasm, nucleus, nucleus, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0006357, GO:0000079, regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 923 981 1267 1361 1450 1389 1115 984 1161 ENSG00000221983 chr19 18571730 18577550 + UBA52 protein_coding Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008]. 7311 GO:0070062, GO:0043657, GO:0031982, GO:0030666, GO:0022627, GO:0022625, GO:0010008, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005789, GO:0005783, GO:0005765, GO:0005741, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0005615, extracellular exosome, host cell, vesicle, endocytic vesicle membrane, cytosolic small ribosomal subunit, cytosolic large ribosomal subunit, endosome membrane, plasma membrane, plasma membrane, cytosol, cytosol, endoplasmic reticulum membrane, endoplasmic reticulum, lysosomal membrane, mitochondrial outer membrane, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, extracellular space, GO:0031625, GO:0031386, GO:0005515, GO:0003735, ubiquitin protein ligase binding, protein tag, protein binding, structural constituent of ribosome, GO:0075733, GO:0070987, GO:0070911, GO:0070498, GO:0070423, GO:0061418, GO:0061024, GO:0055085, GO:0051403, GO:0051092, GO:0045944, GO:0044267, GO:0043488, GO:0043066, GO:0043065, GO:0042769, GO:0042276, GO:0036297, GO:0035666, GO:0033683, GO:0031145, GO:0030512, GO:0019985, GO:0019941, GO:0019221, GO:0019083, GO:0019068, GO:0019058, GO:0017085, GO:0016579, GO:0016567, GO:0016567, GO:0016197, GO:0016055, GO:0007254, GO:0007249, GO:0007179, GO:0006625, GO:0006614, GO:0006464, GO:0006413, GO:0006297, GO:0006296, GO:0006294, GO:0006283, GO:0002756, GO:0002755, GO:0000717, GO:0000715, GO:0000209, GO:0000187, GO:0000184, GO:0000122, intracellular transport of virus, error-free translesion synthesis, global genome nucleotide-excision repair, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, membrane organization, transmembrane transport, stress-activated MAPK cascade, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription by RNA polymerase II, cellular protein metabolic process, regulation of mRNA stability, negative regulation of apoptotic process, positive regulation of apoptotic process, DNA damage response, detection of DNA damage, error-prone translesion synthesis, interstrand cross-link repair, TRIF-dependent toll-like receptor signaling pathway, nucleotide-excision repair, DNA incision, anaphase-promoting complex-dependent catabolic process, negative regulation of transforming growth factor beta receptor signaling pathway, translesion synthesis, modification-dependent protein catabolic process, cytokine-mediated signaling pathway, viral transcription, virion assembly, viral life cycle, response to insecticide, protein deubiquitination, protein ubiquitination, protein ubiquitination, endosomal transport, Wnt signaling pathway, JNK cascade, I-kappaB kinase/NF-kappaB signaling, transforming growth factor beta receptor signaling pathway, protein targeting to peroxisome, SRP-dependent cotranslational protein targeting to membrane, cellular protein modification process, translational initiation, nucleotide-excision repair, DNA gap filling, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, preincision complex assembly, transcription-coupled nucleotide-excision repair, MyD88-independent toll-like receptor signaling pathway, MyD88-dependent toll-like receptor signaling pathway, nucleotide-excision repair, DNA duplex unwinding, nucleotide-excision repair, DNA damage recognition, protein polyubiquitination, activation of MAPK activity, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, negative regulation of transcription by RNA polymerase II, 1948 1717 2191 2250 2584 2477 2196 2096 1944 ENSG00000221986 chr1 109292365 109307041 - MYBPHL protein_coding This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]. 343263 GO:0036379, GO:0030017, myofilament, sarcomere, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 5 0 1 0 0 ENSG00000221988 chr6 32153441 32163680 + PPT2 protein_coding This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]. 9374 GO:0070062, GO:0043231, GO:0043202, GO:0005764, GO:0005764, extracellular exosome, intracellular membrane-bounded organelle, lysosomal lumen, lysosome, lysosome, GO:0098599, GO:0098599, GO:0016790, GO:0016790, GO:0008474, palmitoyl hydrolase activity, palmitoyl hydrolase activity, thiolester hydrolase activity, thiolester hydrolase activity, palmitoyl-(protein) hydrolase activity, GO:0098734, GO:0046949, macromolecule depalmitoylation, fatty-acyl-CoA biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000221989 chr7 144109514 144110564 + OR2A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 442361 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000221990 chr5 441498 443160 - EXOC3-AS1 antisense 3 6 2 5 6 12 1 5 0 ENSG00000221994 chrX 47983356 48071658 - ZNF630 protein_coding This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 57232 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 31 16 18 11 25 20 27 21 7 ENSG00000221995 chr17 29073521 29078857 - TIAF1 protein_coding 9220 GO:0005634, nucleus, GO:0042802, GO:0005515, GO:0003674, identical protein binding, protein binding, molecular_function, GO:0043066, GO:0007249, GO:0006915, negative regulation of apoptotic process, I-kappaB kinase/NF-kappaB signaling, apoptotic process, 10 9 16 28 40 34 26 19 28 ENSG00000221996 chr11 4367263 4368386 - OR52B4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 143496 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050890, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, cognition, G protein-coupled receptor signaling pathway, 2 0 3 0 1 0 0 1 0 ENSG00000222000 chr2 98331389 98356005 - AC092675.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000222001 chr2 233012614 233015885 + AC106876.1 processed_transcript 101928881 0 0 0 0 0 0 0 0 0 ENSG00000222004 chr7 26637871 26647305 + C7orf71 lincRNA 285941 3 2 3 2 9 4 3 2 0 ENSG00000222005 chr2 46698940 46822804 + LINC01118 sense_overlapping 388948 3 1 2 1 5 0 7 1 0 ENSG00000222007 chr2 235773855 235783387 - AC064874.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000222009 chr1 44808482 44815585 + BTBD19 protein_coding 149478 436 696 612 1018 1832 2572 1488 1548 2045 ENSG00000222011 chr7 102748971 102809225 + FAM185A protein_coding 222234 GO:0005829, cytosol, GO:0005515, protein binding, 31 43 30 16 37 72 51 38 27 ENSG00000222012 chr7 157614023 157618765 + AC005481.1 antisense 105375614 0 0 0 3 0 0 0 0 0 ENSG00000222014 chr2 129979664 129982738 + RAB6C protein_coding 84084 GO:0012505, GO:0005829, GO:0005813, GO:0005794, GO:0005794, GO:0005634, endomembrane system, cytosol, centrosome, Golgi apparatus, Golgi apparatus, nucleus, GO:0005525, GO:0005515, GO:0003924, GO:0003924, GTP binding, protein binding, GTPase activity, GTPase activity, GO:0042493, GO:0042147, GO:0010824, GO:0007264, GO:0006891, GO:0006890, GO:0006886, GO:0000278, response to drug, retrograde transport, endosome to Golgi, regulation of centrosome duplication, small GTPase mediated signal transduction, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, mitotic cell cycle, 4 6 3 1 1 1 0 2 3 ENSG00000222017 chr2 197693106 197774823 + AC011997.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000222018 chr21 34400317 34401072 - FAM243A protein_coding 101928147 0 0 0 0 0 0 0 0 0 ENSG00000222019 chr16 90039761 90047773 - URAHP transcribed_unprocessed_pseudogene 100130015 11 10 13 19 31 14 43 23 25 ENSG00000222020 chr2 239401436 239402364 + AC062017.1 antisense 101928111 6 8 10 14 8 4 1 7 4 ENSG00000222022 chr2 237421420 237425276 - AC112721.1 lincRNA 0 0 0 4 0 0 0 0 0 ENSG00000222024 chr7 79353410 79354392 + AC004945.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222028 chr14 23042167 23044276 + PSMB11 protein_coding Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008]. 122706 GO:0019774, GO:0005839, GO:0005829, GO:0005737, GO:0005634, proteasome core complex, beta-subunit complex, proteasome core complex, cytosol, cytoplasm, nucleus, GO:0008233, GO:0005515, GO:0004298, GO:0004175, peptidase activity, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043374, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0033077, GO:0031146, GO:0031145, GO:0016579, GO:0010972, GO:0010499, GO:0006521, GO:0006508, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, CD8-positive, alpha-beta T cell differentiation, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, T cell differentiation in thymus, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, proteolysis, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000222030 chr2 59217708 59279400 + LINC01793 lincRNA 101927285 0 0 0 0 0 0 0 0 0 ENSG00000222031 chr2 151001220 151048774 - AC023469.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000222032 chr2 237428920 237434822 - AC112721.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000222033 chr2 170712451 170714567 - LINC01124 lincRNA 440925 0 0 0 0 0 0 0 0 0 ENSG00000222035 chr2 202113626 202117058 - AC079354.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000222036 chr14 18967434 18999012 + POTEM protein_coding 641455 0 0 0 0 0 0 0 0 0 ENSG00000222037 chr22 22919535 22919851 + IGLC6 IG_C_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222038 chr2 130611481 130658091 + POTEJ protein_coding 653781 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0001895, retina homeostasis, 0 0 0 0 1 0 0 0 0 ENSG00000222041 chr2 87454781 87636740 + CYTOR lincRNA This gene produces a long non-coding RNA that is overexpressed in cancer cells and promotes cell proliferation and epithelial-mesenchymal transition. This RNA may bind enhancer of zeste homolog 2 and participate in the transcriptional silencing of tumor suppressor genes. It may act as a sponge for microRNAs. Alternatively spliced variants have been observed. [provided by RefSeq, Dec 2017]. 112597 186 153 230 112 181 158 155 130 158 ENSG00000222042 chr21 25169431 25333825 - AP001341.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000222043 chr2 177264359 177265515 + AC079305.1 antisense 518 467 630 328 380 476 441 386 524 ENSG00000222044 chr22 38032165 38034228 - AL031587.1 antisense 4 0 0 0 0 0 0 0 0 ENSG00000222046 chr1 32209094 32216196 + DCDC2B protein_coding This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Sep 2010]. 149069 GO:0030864, GO:0005874, GO:0005815, cortical actin cytoskeleton, microtubule, microtubule organizing center, GO:0005515, protein binding, GO:0035556, intracellular signal transduction, 99 87 133 50 60 62 49 61 59 ENSG00000222047 chr10 73909969 73922777 - C10orf55 protein_coding 414236 GO:0042802, GO:0005515, identical protein binding, protein binding, 88 227 718 2135 1011 1873 4143 2353 2474 ENSG00000222051 chr10 101622859 101622965 + RNU6-1165P snRNA 0 1 0 5 1 0 0 0 0 ENSG00000222054 chr5 9760907 9761013 + RNA5SP177 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222057 chr3 121655475 121655604 - RNU4-62P snRNA 16 25 14 30 31 29 27 20 9 ENSG00000222067 chr11 126214260 126214478 - RNU4-86P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222068 chr2 133391109 133391398 - RN7SKP154 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222069 chr1 103523562 103523879 + RN7SKP285 misc_RNA 1 3 0 0 0 0 0 0 2 ENSG00000222071 chr10 21496562 21496641 - MIR1915 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302129 0 0 0 0 0 0 0 0 0 ENSG00000222072 chr10 100907174 100907280 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222076 chr15 95745804 95745994 + RNU2-3P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222078 chr6 90001222 90001506 - RN7SKP110 misc_RNA 0 0 0 0 0 0 1 0 6 ENSG00000222087 chr18 15320840 15320944 - RNU6-721P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222092 chr10 29711915 29712008 + RNU6-908P snRNA 1 0 1 0 0 0 0 0 0 ENSG00000222094 chr15 72045183 72045367 + RNU2-65P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222095 chr14 100994257 100994330 + RF00181 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000222099 chr8 47068021 47068323 - RN7SKP32 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222102 chr5 151704289 151704578 - RN7SKP232 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222107 chr5 125350868 125351131 - RN7SKP117 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222108 chr10 49979665 49979780 - RNA5SP317 rRNA_pseudogene 2 1 0 0 1 0 2 1 0 ENSG00000222111 chr5 175628188 175628462 + RN7SKP148 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222112 chr1 33336566 33336864 - RN7SKP16 misc_RNA 76 63 77 37 60 43 50 41 24 ENSG00000222114 chrX 137687891 137687994 - RNU6-985P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222118 chr20 56205052 56205173 - RNA5SP487 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222122 chrX 115032427 115032533 + RNU6-648P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222123 chr15 25738508 25738620 + RNA5SP390 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222126 chr2 148825691 148825835 - RNU2-9P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222129 chr13 94651397 94651529 - RNA5SP36 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222139 chr15 80663772 80663878 + RNU6-380P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222145 chr6 88714242 88714430 - RF00045 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000222146 chr8 112148742 112148825 - RNU4-37P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222148 chr13 49889634 49889728 - RNY4P30 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222150 chr7 116944286 116944414 - RNA5SP239 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222154 chr7 53490148 53490439 - RN7SKP218 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222160 chr12 107650789 107650892 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222162 chr11 13353208 13353523 + RN7SKP151 misc_RNA 3 0 1 2 0 3 5 5 0 ENSG00000222164 chr7 18807993 18808279 - RN7SKP266 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222170 chr16 48731704 48731801 - RNU6-257P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222174 chr18 586517 586850 - RN7SKP146 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222177 chr16 68329387 68329529 - RNU4-30P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222178 chr5 36485343 36485440 + RNA5SP181 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222179 chr18 45989653 45989945 - RN7SKP26 misc_RNA 4 2 18 0 3 6 3 0 0 ENSG00000222182 chr4 11414051 11414160 - RNA5SP156 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222185 chr14 100998467 100998541 + RF00181 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000222202 chr9 20418321 20418427 + RNU4-26P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222205 chr8 57126655 57126762 - RNA5SP266 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222206 chr4 27223319 27223427 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222207 chr16 35734639 35734748 + RNA5SP407 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222208 chr3 37341649 37341766 + RNA5SP129 rRNA_pseudogene 0 0 2 0 3 0 0 0 0 ENSG00000222209 chr1 118264372 118264489 - RNA5SP56 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222210 chr12 57977965 57978277 - RN7SKP65 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222213 chr5 149606637 149606741 - RNU6-588P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222220 chr7 94801514 94801812 + RN7SKP129 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222222 chr1 150236967 150237156 + RNU2-17P snRNA 0 0 0 2 0 0 0 0 0 ENSG00000222224 chr2 28927243 28927340 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222225 chr11 152999 153102 - RNU6-447P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222230 chr4 38758791 38758892 - RNA5SP158 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222231 chr8 76265543 76265732 - RNU2-54P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222232 chr2 28683976 28684083 + RNA5SP89 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222236 chr4 71759518 71759616 - RNA5SP163 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222238 chr10 101307529 101307718 + RNU2-43P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222240 chr1 188155839 188156180 - RN7SKP156 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222244 chr16 79264454 79264573 + RNA5SP431 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222246 chr2 231892242 231892298 - MIR1471 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302126 0 0 0 0 0 0 0 0 0 ENSG00000222248 chr6 3088686 3088809 - RNA5SP201 rRNA_pseudogene 0 3 0 0 4 0 0 1 1 ENSG00000222249 chr11 119289562 119289677 - RNU6-262P snRNA 1 0 0 1 0 5 4 4 0 ENSG00000222251 chr2 60998752 60998888 + RNA5SP95 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222255 chr12 101765406 101765509 - RNU6-101P snRNA 2 0 0 0 1 0 0 0 0 ENSG00000222257 chr4 45995119 45995423 + RN7SKP199 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222259 chr9 34049966 34050244 + RN7SKP114 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222266 chr5 134715483 134715582 + RNU6-757P snRNA 0 0 0 0 0 4 0 0 0 ENSG00000222267 chr8 20229779 20229877 + RNU6-892P snRNA 20 25 17 9 4 4 6 2 3 ENSG00000222268 chr16 47505432 47505543 + RNA5SP425 rRNA_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000222276 chr14 96384624 96384815 + RNU2-33P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222281 chr20 11818821 11819091 - RN7SKP111 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222282 chr1 37885023 37885117 + RNU6-584P snRNA 1 0 2 4 0 3 0 0 0 ENSG00000222285 chr5 136969200 136969306 - RNA5SP193 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222287 chr16 30701337 30701435 - RNU6-1043P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222293 chr9 86422938 86423128 - RNU2-36P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222297 chr11 125574719 125574818 + RNU6-1156P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222300 chr2 158935798 158935985 - RNU2-21P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222302 chr12 107486511 107486635 - RNA5SP371 rRNA_pseudogene 3 1 0 0 0 0 1 0 0 ENSG00000222303 chrX 50649641 50649740 + RNU6-935P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222305 chr10 90880040 90880179 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222308 chr5 151875566 151875692 - RNA5SP198 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222312 chr5 16033229 16033356 - RNA5SP178 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222313 chrX 148822164 148822448 - RN7SKP267 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222314 chr10 38423625 38423728 + RNU6-1118P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000222317 chr2 209721913 209722021 - RNA5SP118 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222320 chr18 31937533 31937639 + RNU6-1050P snRNA 0 1 1 0 0 3 0 0 0 ENSG00000222321 chrX 114651544 114651623 + MIR1912 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302144 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000222327 chr9 112137797 112137900 + RNU6-855P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222328 chr11 62841619 62841809 - RNU2-2P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222329 chr19 223158 223261 - RNU6-1076P snRNA 0 1 0 0 0 7 0 0 0 ENSG00000222335 chr3 196202349 196202453 + RF00019 misc_RNA 1 4 2 1 0 0 0 0 0 ENSG00000222337 chr9 99284022 99284373 + RN7SKP225 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222338 chr12 3726222 3726327 - RNU6-174P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222343 chr15 47272597 47272889 + RN7SKP139 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222344 chr2 229894346 229894453 + RNU6-613P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000222345 chr3 52691378 52691453 + RF00569 snoRNA 0 0 1 6 6 0 5 3 3 ENSG00000222346 chr7 111953653 111953765 - RNA5SP237 rRNA_pseudogene 0 1 0 1 1 0 0 0 0 ENSG00000222351 chr9 122945988 122946094 - RNY1P15 misc_RNA 1 0 0 6 4 5 10 0 5 ENSG00000222352 chr22 21545344 21545644 - RN7SKP221 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222355 chr7 53776136 53776324 + RNU2-29P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222356 chr9 111996635 111996739 - RNU6-710P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222357 chr3 168475198 168475388 + RNU2-20P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222359 chr16 90144592 90144695 + RNU6-355P snRNA 0 0 5 0 0 0 0 0 0 ENSG00000222361 chr15 98074667 98074763 - RNU6-1186P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222363 chr17 29388560 29388683 + RNU4-34P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222365 chr20 49280319 49280409 + SNORD12B snoRNA 19 19 21 17 57 24 16 15 29 ENSG00000222370 chr1 220200546 220200676 - SNORA36B snoRNA 677818 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000222371 chr10 68158079 68158408 + RN7SKP202 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222375 chr16 29731051 29731404 - RN7SKP127 misc_RNA 9 7 7 33 41 52 26 26 13 ENSG00000222376 chr2 166180652 166180966 - RN7SKP152 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222378 chr1 39154164 39154296 - RNA5SP44 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222383 chr6 10752791 10752926 - RNA5SP203 rRNA_pseudogene 0 0 1 0 0 0 1 0 0 ENSG00000222385 chr11 28261194 28261519 - RN7SKP158 misc_RNA 0 0 0 0 0 0 2 0 0 ENSG00000222386 chr7 103484208 103484539 - RN7SKP86 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222389 chr3 81509476 81509664 + RNU2-28P snRNA 5 2 1 0 3 0 3 0 0 ENSG00000222394 chr2 137715332 137715440 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222395 chr18 32263135 32263234 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222397 chr1 181839473 181839774 - RN7SKP229 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222398 chr15 43602543 43602648 + RNU6-554P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222399 chr1 222503632 222503735 - RNU6-791P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222404 chr2 157298807 157299158 - RN7SKP281 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222405 chr12 70443784 70443923 - RNU4-65P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222407 chr1 231281414 231281524 - RNA5SP80 rRNA_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000222412 chr10 31756042 31756136 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222413 chr9 117276985 117277286 + RN7SKP125 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222414 chr10 101364845 101365035 - RNU2-59P snRNA 0 0 0 2 0 0 0 0 0 ENSG00000222416 chr8 93441277 93441384 + RNA5SP274 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222418 chr2 182048822 182048905 + RNA5SP113 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222419 chrX 103850797 103850911 - RNA5SP511 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222421 chr9 127832635 127832743 - RF00019 misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000222426 chr9 34282528 34282670 - RNU2-50P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000222427 chr11 22688351 22688435 + RNA5SP338 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222428 chr7 68723911 68724048 - RNA5SP231 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222429 chr17 4619749 4619852 - RNU6-955P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222430 chr10 101952605 101952704 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222431 chr6 20452369 20452473 - RNU6-141P snRNA 3 0 0 0 2 0 0 0 0 ENSG00000222432 chr7 77895880 77895992 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222436 chr10 108940969 108941310 - RN7SKP278 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222438 chr12 130869736 130869837 - RNU6-1077P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222439 chr20 63337339 63337449 + RNU6-994P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222440 chrX 91798093 91798283 + RNU2-26P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222445 chr6 125875168 125875498 + RN7SKP56 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222448 chr5 179845832 179846152 + RN7SKP150 misc_RNA 0 0 2 2 4 14 0 0 2 ENSG00000222449 chr2 237563165 237563270 + RNU6-1140P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222451 chr10 90163651 90163960 - RN7SKP143 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222452 chr9 78165465 78165778 + RN7SKP59 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222455 chr9 127841112 127841222 - RNA5SP296 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222457 chr1 154297650 154297748 + RNU6-121P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222459 chr9 107918866 107918978 - RNA5SP293 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222460 chr20 35643143 35643462 + RN7SKP271 misc_RNA 2 0 3 0 0 3 3 0 3 ENSG00000222465 chr9 70188571 70188750 - RNU2-5P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222467 chr2 121603073 121603164 - RF00019 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000222468 chr8 31598099 31598204 - RNA5SP261 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222472 chr13 96949249 96949533 - RN7SKP7 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222477 chr11 65147584 65147778 + RNU2-23P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222486 chr13 81265747 81265837 + RNU6-77P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222488 chr8 73018945 73019044 - RNU6-285P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222489 chr14 20323179 20323326 - SNORA79B snoRNA 109616976 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 0 0 4 0 0 0 ENSG00000222490 chr3 90184634 90184733 + RNU6-712P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222496 chr2 206221315 206221634 + RN7SKP200 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222499 chr3 157017342 157017696 + RN7SKP177 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222500 chr20 15280764 15280873 - RNA5SP475 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222501 chr8 128010382 128010611 - RNU4-25P snRNA 0 0 0 3 0 0 1 0 0 ENSG00000222503 chr10 103673158 103673265 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222506 chr3 171439526 171439627 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222509 chr2 170783167 170783271 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222511 chr1 8796571 8796673 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222514 chr7 138091254 138091315 + RN7SKP223 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222515 chr6 22085544 22085918 + RN7SKP240 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222520 chr18 21928985 21929094 - RNA5SP451 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222522 chr8 47979414 47979521 + RNU6-519P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222524 chr19 55737285 55737600 + RN7SKP109 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222529 chr11 118970498 118970595 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222532 chrX 63786002 63786087 - MIR1468 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302115 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000222533 chr5 181301967 181302070 + RNU6-705P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222536 chr2 72721806 72722003 + RNU2-39P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222543 chr10 25393557 25393844 - RN7SKP220 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222544 chr12 95438737 95438843 - RNU6-735P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222546 chr8 3700492 3700628 + RNA5SP251 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222552 chr1 159178473 159178559 + RNA5SP60 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222558 chr9 107797744 107797847 - RNU6-1064P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222560 chr5 26012889 26013025 + RNU4-43P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222561 chr11 948421 948524 + RNU6-1025P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222574 chr3 78161698 78161992 + RN7SKP61 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222578 chr11 95840017 95840124 - RNA5SP345 rRNA_pseudogene 0 2 0 0 0 5 0 1 0 ENSG00000222579 chr12 104851824 104851918 + RF00019 misc_RNA 3 1 1 0 1 0 6 0 0 ENSG00000222581 chr9 12300266 12300451 - RNU2-47P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222582 chr4 154787118 154787278 + RNU2-66P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222583 chr3 192093122 192093436 + RN7SKP222 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222585 chr22 25715041 25715169 - RNA5SP494 rRNA_pseudogene 1 2 0 0 2 0 0 0 1 ENSG00000222588 chr10 119060983 119061111 - RF00413 snoRNA 0 0 0 1 1 0 0 0 0 ENSG00000222589 chr8 5910945 5911236 - RN7SKP159 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222592 chr4 39399149 39399248 + RNU6-887P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222594 chr4 145035132 145035436 + RN7SKP235 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222598 chr5 115774319 115774502 - RNU2-49P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222601 chr12 120504571 120504659 - RF00019 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000222604 chr14 74711936 74712045 + RF00409 snoRNA 2 2 2 1 2 0 1 1 0 ENSG00000222607 chr8 123262843 123262949 + RNU6-628P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222608 chrX 52665231 52665347 + RNA5SP504 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222609 chr5 120710698 120710840 - RNU4-69P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222610 chr5 98889731 98889833 + RNU6-402P snRNA 0 1 3 0 2 9 0 1 5 ENSG00000222612 chr20 41024205 41024394 + RNU2-52P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222613 chr4 140779039 140779141 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222614 chr19 46736312 46736419 + RF00019 misc_RNA 3 9 5 0 4 0 1 0 5 ENSG00000222616 chr2 22861552 22861884 + RN7SKP27 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222617 chr15 96486582 96486891 + RN7SKP254 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222623 chr1 157784 157887 - RNU6-1100P snRNA 3 5 3 3 3 5 6 2 5 ENSG00000222624 chr1 65415816 65416006 + RNU2-15P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222626 chr5 157976766 157976956 - RNU2-48P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222627 chr3 128075073 128075249 - RNU2-37P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222629 chr10 125890566 125890678 - RNU2-42P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222630 chr22 18605802 18606102 - RN7SKP131 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222635 chr12 48081319 48081428 + RNU6-1203P snRNA 0 0 2 0 2 0 0 0 0 ENSG00000222636 chr7 101058299 101058567 + RN7SKP54 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222640 chr14 70360892 70361088 + RNU2-51P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222644 chr4 75829454 75829589 - RNU2-16P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222649 chr6 119057880 119057974 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222650 chr1 236267780 236267958 + RNU2-70P snRNA 1 0 0 0 5 2 4 1 0 ENSG00000222652 chr6 76092834 76092940 + RNU6-248P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222658 chr9 12885321 12885417 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222659 chr6 121580332 121580521 - RNU2-8P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222663 chr11 105824634 105824770 + RNU4-55P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222664 chr1 93026252 93026542 + RN7SKP123 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222666 chr10 28408039 28408251 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000222667 chrX 66676258 66676364 - RNU6-394P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222675 chr3 157173918 157174040 - RNA5SP146 rRNA_pseudogene 0 0 0 2 9 7 5 1 5 ENSG00000222678 chr2 219590687 219590984 - RN7SKP213 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222679 chr17 30288071 30288177 - RNU6-1267P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222682 chr13 106155372 106155490 - RNA5SP38 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222685 chr2 47359505 47359777 - RN7SKP119 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222686 chr6 85751581 85751753 + RNU4-72P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222691 chr4 107867807 107867910 - RNU6-733P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222693 chr9 25088811 25089151 - RN7SKP120 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222698 chr22 41045497 41045591 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222701 chr16 30471587 30471703 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222704 chr18 39016047 39016344 - RN7SKP182 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222705 chr10 28442575 28442896 - RN7SKP39 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222706 chr5 114253513 114253754 + RN7SKP89 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222713 chr6 117301455 117301758 + RN7SKP51 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222714 chr2 218500729 218501037 - RN7SKP38 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222715 chrX 114763184 114763263 + MIR1911 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302222 0 0 0 0 0 0 0 0 0 ENSG00000222721 chr4 167662986 167663302 + RN7SKP188 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222724 chr2 88016354 88016547 - RNU2-63P snRNA 0 0 0 0 0 0 5 0 1 ENSG00000222726 chr13 20612161 20612338 + RNU2-7P snRNA 0 0 3 3 6 3 0 1 7 ENSG00000222727 chr4 186026456 186026586 - RNU4-64P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222733 chr13 58527655 58527751 - RNY4P29 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222736 chrX 16875146 16875267 - RNU4-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222740 chr10 126145474 126145582 - RNA5SP328 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222741 chr7 33177740 33177838 + RNA5SP229 rRNA_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000222743 chr5 37619985 37620088 - RNU6-1190P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222744 chr12 66292683 66292987 + RN7SKP166 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222747 chr13 21369790 21369899 - RNA5SP25 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222750 chr16 19498610 19498747 + RNU4-46P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222755 chr8 129290983 129291275 + RN7SKP206 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222760 chr9 36267783 36267922 + RNU4-53P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000222761 chr14 104400943 104401048 - RNU6-684P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222764 chr6 141486141 141486412 - RN7SKP106 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222765 chr4 65807240 65807435 - RNU2-40P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222767 chr16 47313027 47313121 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222774 chr11 127406028 127406332 - RN7SKP121 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222777 chr17 39546104 39546244 - RNU6-233P snRNA 1 0 0 0 0 0 0 0 8 ENSG00000222778 chr3 144186905 144187020 - RNA5SP144 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222783 chr3 130811768 130812095 - RN7SKP212 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222784 chr1 30843823 30844110 + RN7SKP91 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222788 chr1 148939739 148939817 - RNU2-38P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222790 chr5 140397323 140397444 - RNU4-14P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222791 chr13 83298071 83298167 - RNU6-67P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222792 chr3 198196746 198196849 + RNU6-860P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222795 chr8 100831728 100831860 - RNU4-83P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222796 chrX 150955494 150955587 - RNU6-383P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222800 chr6 27109790 27109980 - RNU2-62P snRNA 1 1 0 0 0 0 0 0 0 ENSG00000222806 chr6 153420438 153420572 + RNA5SP225 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222808 chr17 77152561 77152674 - RNU4-47P snRNA 17 14 11 2 19 7 4 2 10 ENSG00000222810 chrX 72376979 72377169 - RNU2-68P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222821 chr1 36402721 36402859 - RNU4-27P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222826 chr2 138863597 138863895 - RN7SKP286 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222831 chr1 235853000 235853060 - MIR1537 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302139 2 0 6 0 1 0 0 1 1 ENSG00000222832 chr2 216793489 216793600 - RNA5SP120 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222835 chr2 91674857 91674966 + RNA5SP100 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222838 chr3 72691705 72691811 - RNA5SP136 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222842 chr2 17122841 17123140 - RN7SKP168 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222844 chr11 125277552 125277657 + RNU6-321P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222845 chr2 187122562 187122861 - RN7SKP42 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222849 chr1 77779904 77779999 + RNA5SP21 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222852 chr5 180909838 180909927 + RF00019 misc_RNA 0 0 0 9 8 14 6 7 15 ENSG00000222854 chr1 144701050 144701159 - RNA5SP59 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222858 chr17 29641611 29641702 - RNU6-920P snRNA 7 15 22 19 38 26 21 21 14 ENSG00000222859 chr4 177181442 177181741 + RN7SKP136 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222862 chr8 27679836 27679935 + RNU6-1086P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222869 chr7 37351143 37351242 + RNU6-565P snRNA 0 0 0 0 2 0 0 3 0 ENSG00000222870 chr7 94495299 94495404 + RNU6-1328P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222872 chr3 42221840 42221965 + RNU4-78P snRNA 0 0 0 0 0 1 2 0 0 ENSG00000222874 chr20 46859333 46859672 + RN7SKP33 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222880 chr12 80343515 80343792 - RN7SKP261 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222881 chr17 40391232 40391338 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222883 chr3 75964980 75965069 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222889 chr8 69700224 69700495 + RN7SKP29 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222890 chr12 101411357 101411459 + RNU6-1068P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222895 chr6 31083010 31083109 + RNU6-1133P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222898 chr8 61631680 61632012 - RN7SKP97 misc_RNA 3 2 19 13 5 4 4 3 0 ENSG00000222909 chr10 34942969 34943075 + RNU6-193P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222915 chr22 30421045 30421148 + RNU6-564P snRNA 0 0 0 1 0 0 3 0 4 ENSG00000222920 chr13 51027747 51027852 - RNA5SP29 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222921 chr2 134231195 134231312 + RNA5SP104 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222922 chrX 32102065 32102176 + RNA5SP501 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222923 chr2 114420125 114420302 + RNU2-41P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222924 chr5 138069355 138069458 - RNU6-1148P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222931 chr14 23791930 23792236 + RN7SKP205 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222932 chr12 101796410 101796502 - RNU6-172P snRNA 0 0 0 1 0 0 0 2 0 ENSG00000222934 chr3 86362132 86362474 + RN7SKP284 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222937 chr5 138558970 138559039 - RF00154 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000222940 chr2 24045835 24045938 + RNU6-370P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222941 chr7 151916331 151916418 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222942 chr3 41766615 41766919 - RN7SKP58 misc_RNA 0 0 0 0 0 0 0 0 1 ENSG00000222950 chr12 25779287 25779569 - RN7SKP262 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222952 chr1 13623184 13623284 - RNA5SP41 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222955 chr8 55745232 55745342 + RNA5SP265 rRNA_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000222958 chr6 166509354 166509433 - MIR1913 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302141 0 0 0 0 0 0 0 0 0 ENSG00000222960 chr5 53912020 53912123 - RNU6-272P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222966 chr7 99952033 99952158 + RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000222969 chr13 98203835 98204192 - RN7SKP8 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222971 chr6 146340420 146340524 + RNA5SP222 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222972 chr2 201646716 201646820 + RNU6-651P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222973 chr9 2162763 2162953 - RNU2-25P snRNA 0 1 0 0 0 0 0 0 0 ENSG00000222974 chr7 12876684 12876946 + RN7SKP228 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222976 chr17 57789449 57789732 + RN7SKP94 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222979 chr10 121410916 121411200 + RN7SKP167 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222982 chr12 114504876 114505187 - RN7SKP216 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222983 chr3 31228715 31228847 + RNA5SP127 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000222985 chr14 65124352 65124542 - RNU2-14P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222986 chr1 231670635 231670750 + RNU5A-5P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000222987 chr5 102302504 102302810 + RN7SKP68 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222990 chr14 88513498 88513663 + RNU4-22P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000222997 chr10 130505106 130505201 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000222998 chr11 57451690 57452022 + RN7SKP259 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223001 chr6 89063500 89063690 - RNU2-61P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223003 chr5 56146739 56146846 - RNA5SP184 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223004 chr5 24811481 24811548 + RF00070 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000223006 chr4 121061172 121061478 - RN7SKP137 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223007 chr5 5126046 5126337 + RN7SKP73 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223012 chr9 86258358 86258646 - RN7SKP264 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000223013 chr11 75934936 75935039 + RNA5SP344 rRNA_pseudogene 0 0 0 0 0 0 4 0 3 ENSG00000223015 chr11 87606783 87606885 + RNU6-1135P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223019 chr10 25813811 25813917 - RNA5SP306 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223023 chr18 23024596 23024703 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223024 chr13 18869185 18869291 - RNU6-55P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223026 chr1 81251789 81252096 + RN7SKP247 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223027 chr10 26789017 26789157 + RF00191 snoRNA 0 1 1 1 0 0 0 0 0 ENSG00000223037 chr4 164620732 164620837 + RNU6-284P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223039 chr6 151319635 151319950 + RN7SKP268 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223040 chr3 2088933 2089211 - RN7SKP144 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223042 chr12 10084186 10084490 + RN7SKP161 misc_RNA 1 1 1 3 0 2 3 0 0 ENSG00000223044 chr6 82210338 82210440 - RNU6-130P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000223046 chr12 101836820 101836927 + RNA5SP369 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223047 chr10 34926775 34926882 + RNU6-847P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223056 chr22 25963983 25964273 - RN7SKP169 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223060 chr19 56105416 56105510 + RF00019 misc_RNA 3 0 7 0 3 5 3 1 5 ENSG00000223062 chr1 27824538 27824643 + RNU6-1245P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223064 chr10 85537379 85537483 + RNU6-325P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223075 chr1 192875686 192875985 - RN7SKP126 misc_RNA 0 0 0 0 0 0 0 0 2 ENSG00000223076 chr13 60613608 60613734 + RNA5SP31 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223078 chr21 23281736 23281909 - RNU2-55P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223080 chr11 8943380 8943467 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223086 chr4 10115756 10115884 - RNA5SP155 rRNA_pseudogene 3 1 11 1 1 0 1 0 3 ENSG00000223087 chr14 31662039 31662143 - RNU6-602P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223088 chr9 24905469 24905735 + RMRPP5 ribozyme 0 0 0 0 0 0 0 0 0 ENSG00000223092 chr2 200849038 200849144 - RNA5SP115 rRNA_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000223096 chr2 178142548 178142651 + RNU5E-9P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223107 chr10 60912765 60912927 - RNU2-72P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223109 chr16 69565808 69565868 - MIR1538 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302119 0 0 0 0 0 0 0 0 1 ENSG00000223111 chr10 49954214 49954414 + SNORA74C-2 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000223113 chr7 140370441 140370545 + RNA5SP247 rRNA_pseudogene 0 0 0 2 0 0 0 0 1 ENSG00000223117 chr3 190642163 190642503 + RN7SKP296 misc_RNA 32 49 81 25 49 61 26 27 44 ENSG00000223118 chr2 123869256 123869570 - RN7SKP102 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223120 chr15 96842069 96842384 + RN7SKP181 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223125 chr17 41467956 41468146 + RNU2-32P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223126 chr12 94008739 94009047 - RN7SKP263 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223128 chr20 21424758 21425041 - RN7SKP140 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223131 chr10 22997255 22997358 + RNA5SP304 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223136 chr5 29948828 29949130 + RN7SKP207 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223138 chr18 9923920 9924021 + RNA5SP450 rRNA_pseudogene 4 2 3 8 8 25 4 3 10 ENSG00000223142 chr22 49738677 49739003 + RN7SKP252 misc_RNA 0 0 0 1 0 3 0 0 0 ENSG00000223145 chr2 7141227 7141544 - RN7SKP112 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223152 chr1 66094461 66094546 - RNU4-88P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223156 chr10 16476003 16476164 + RNU2-18P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000223158 chr13 25950704 25950821 - RNY1P3 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223162 chr9 27198287 27198401 + RNA5SP280 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223168 chr16 51671236 51671563 - RN7SKP142 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223169 chr6 75865239 75865335 - RNA5SP209 rRNA_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000223174 chr14 76890263 76890613 + RN7SKP17 misc_RNA 0 2 0 1 0 0 1 1 0 ENSG00000223175 chr1 48447936 48448042 + RNU4-61P snRNA 0 3 0 0 0 0 0 0 0 ENSG00000223177 chr13 108301212 108301331 - RNA5SP39 rRNA_pseudogene 5 5 9 7 11 27 6 4 3 ENSG00000223179 chr5 119007571 119007668 + RNU6-373P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223181 chr1 758233 758336 - RNU6-1199P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223188 chr9 130120806 130120912 + RF00019 misc_RNA 1 0 1 0 0 3 0 1 1 ENSG00000223189 chr7 128627172 128627275 + RNU6-177P snRNA 0 0 0 0 1 0 0 0 4 ENSG00000223190 chr20 43063326 43063609 + RN7SKP100 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223191 chr6 158926466 158926571 - RNU6-293P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223197 chr2 155089439 155089538 - RNU6-1001P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223198 chr2 231501990 231502201 - RNU2-22P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000223202 chr11 74685224 74685505 + RN7SKP297 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223203 chr6 143449809 143449911 + RNA5SP221 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223208 chr4 119434005 119434108 - RNU6-1217P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223212 chr7 141052249 141052409 + RNU4-74P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223215 chr8 37668898 37669005 + RNU6-607P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223217 chr17 75409086 75409188 - RNU6-938P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223220 chr8 70780914 70781008 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223223 chr11 59706057 59706383 - RN7SKP192 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223224 chr16 71758402 71758487 - SNORD71 snoRNA 692111 GO:0005730, nucleolus, GO:0006396, RNA processing, 5 4 0 0 3 3 3 0 0 ENSG00000223225 chr4 118606450 118606553 + RNU6-1054P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223229 chr1 96695856 96696167 - RN7SKP270 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223238 chr9 111411644 111411742 - RNA5SP294 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223245 chr2 41871271 41871388 + RNU4-63P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223247 chr3 73110992 73111182 + RNU2-64P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223254 chr1 85264296 85264402 + RF00019 misc_RNA 2 7 4 15 9 19 0 11 10 ENSG00000223256 chr9 138259595 138259698 + RNU6-785P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223258 chr7 43207762 43207866 - RNU6-575P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223259 chrX 76655009 76655127 - RNA5SP508 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223260 chrX 96410432 96410782 - RN7SKP194 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223262 chr21 42221173 42221286 + RNA5SP492 rRNA_pseudogene 0 0 2 0 0 1 0 2 1 ENSG00000223263 chr1 67417214 67417318 + RNU6-387P snRNA 0 0 1 1 0 3 0 1 1 ENSG00000223265 chr11 122579205 122579307 - RNU6-592P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223269 chr11 99120176 99120490 + RN7SKP53 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223271 chr15 66348276 66348375 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223273 chr12 76315751 76316048 + RN7SKP172 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223274 chrX 1300256 1300375 - RNA5SP498 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223280 chr13 41354557 41354659 - RNU6-57P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223281 chr8 98921233 98921550 - RN7SKP85 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223282 chr1 226445937 226446292 + RN7SKP165 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223284 chr19 40708055 40708163 - RNU6-195P snRNA 0 1 0 0 1 0 0 0 5 ENSG00000223287 chr21 13968489 13968595 - RNU6-954P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223290 chr2 154590407 154590528 + RNA5SP107 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223293 chr8 69929905 69930022 + RNA5SP270 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223294 chr12 64575665 64575741 + RF00137 snoRNA 3 1 9 4 5 4 3 0 9 ENSG00000223298 chr13 95310830 95310955 - RNY3P8 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223299 chr14 96638187 96638514 - RN7SKP108 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223300 chr14 73858061 73858165 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223302 chr10 110642678 110642785 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223305 chr4 55540502 55540835 - RN7SKP30 misc_RNA 0 0 0 0 0 2 0 0 0 ENSG00000223306 chr1 225741275 225741380 + RNU6-1304P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223308 chr15 46720193 46720512 - RN7SKP101 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223309 chrX 48959179 48959282 - RNU6-722P snRNA 0 0 0 0 4 0 1 0 1 ENSG00000223313 chr15 40529570 40529673 + RNU6-516P snRNA 1 2 1 0 4 0 0 0 0 ENSG00000223315 chr11 127407851 127408148 + RN7SKP279 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223318 chr2 164895677 164895777 - RNA5SP111 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223321 chr6 12406486 12406781 - RN7SKP293 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223324 chr11 111683111 111683424 + RN7SKP273 misc_RNA 0 1 0 2 0 0 0 0 0 ENSG00000223327 chr8 80585585 80585773 - RNU2-71P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223330 chr7 56402070 56402173 - RNU6-1052P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223335 chr6 32352877 32352983 + RNU6-603P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000223336 chr13 46374401 46374590 - RNU2-6P snRNA 34 35 30 18 20 17 1 11 12 ENSG00000223341 chr13 45060729 45061086 + RN7SKP3 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000223342 chr6 6901022 6918715 - AL158817.1 lincRNA 0 0 0 1 0 0 2 0 0 ENSG00000223343 chr3 48985049 48989988 - AC137630.1 antisense 30 34 26 18 38 47 33 29 30 ENSG00000223344 chr1 191858707 191890229 - AL359081.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223345 chr1 121108210 121117257 - HIST2H2BA transcribed_unprocessed_pseudogene 3 4 2 9 16 6 7 23 2 ENSG00000223349 chr2 130692243 130693770 - KLF2P3 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000223350 chr22 22343187 22343732 + IGLV9-49 IG_V_gene 0 0 0 0 0 4 0 0 0 ENSG00000223351 chr3 21942566 21979828 + ZNF385D-AS2 lincRNA 100874221 0 0 0 0 0 0 0 0 0 ENSG00000223353 chr1 245123471 245124450 - AL589763.1 processed_pseudogene 4 1 3 3 0 0 2 0 3 ENSG00000223356 chr1 156712212 156713174 - AL590666.1 antisense 3 7 3 14 29 21 17 15 12 ENSG00000223358 chr3 185162871 185191955 + EHHADH-AS1 antisense 339926 0 0 0 0 0 0 0 0 0 ENSG00000223360 chr2 12598987 12605145 + AC096559.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223361 chr5 17353695 17354624 - FTH1P10 transcribed_processed_pseudogene 47 55 50 42 49 44 35 63 35 ENSG00000223362 chrY 23855522 23857091 - CDY15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223368 chr9 73870896 73873297 - AL513124.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223373 chr2 212911003 212919809 + AC108066.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223374 chr2 241351340 241353104 - AC005104.1 antisense 151 170 142 104 155 128 99 78 111 ENSG00000223375 chr1 218338541 218338756 + AC096638.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223377 chrX 149758021 149758295 - AC244098.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223379 chr9 61868727 61887084 + AL391987.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223381 chr10 108710518 108839363 + AL356476.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223382 chr1 30824228 30834431 + LINC01778 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223383 chr13 36490078 36490441 - HIST1H2APS6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223387 chr3 172560888 172595607 - LINC02068 lincRNA 105374219 0 0 0 0 0 0 0 0 0 ENSG00000223389 chr6 73322837 73323450 + SDCBP2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223390 chr1 52033391 52044279 + AL445685.1 antisense 22 15 12 15 10 9 23 9 0 ENSG00000223391 chrX 27517771 27517881 - AC006210.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223392 chr13 95479444 95533910 - CLDN10-AS1 antisense 100874194 0 0 0 0 0 0 0 0 0 ENSG00000223393 chr1 230874846 230879015 + AL118511.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223394 chr9 33786221 33786828 + TRBV29OR9-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223395 chrX 52509903 52510182 + RBM22P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223396 chr1 201518703 201584367 + RPS10P7 transcribed_processed_pseudogene 5 8 6 7 6 5 4 1 2 ENSG00000223398 chr3 13460424 13460889 - AC027124.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223400 chr21 41576135 41581319 - AP006748.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223402 chr7 98478551 98479225 - AC074121.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223403 chr14 101064151 101072937 + MEG9 lincRNA 100507257 0 0 0 0 0 0 0 0 0 ENSG00000223404 chr13 87801036 87803808 - LINC00397 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223406 chrY 25752388 25752870 + XKRYP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223407 chrY 23659466 23667822 - USP9YP18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223409 chr3 65843890 65844446 + RPL17P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223410 chr20 40121041 40126357 + AL009050.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223416 chr1 58056133 58056480 - RPS26P15 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000223417 chr11 89911111 89921767 - TRIM49D1 protein_coding 399939 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000223418 chrX 11704123 11705590 - AC004554.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223419 chr7 30742431 30742818 - AC006022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223421 chr9 31165618 31166980 - AL354854.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223422 chrY 7678899 7681028 + AC007274.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223427 chr2 80162428 80163135 - AC016716.1 processed_pseudogene 0 4 0 0 0 0 0 0 0 ENSG00000223428 chr10 75288333 75288682 - AC010997.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223429 chr1 52162186 52163026 - AL139156.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223430 chr2 133554315 133558227 + AC011243.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223431 chr21 44472895 44473739 + MTND6P21 processed_pseudogene 1 0 1 0 0 0 0 1 0 ENSG00000223432 chr10 121615425 121615839 - AC009988.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223433 chr2 207654781 207654951 + RPS29P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223436 chr7 132352334 132367976 + AC011625.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223437 chr7 29625870 29625983 + TMSB4XP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223438 chrX 141625864 141626733 + AC235097.1 sense_intronic 645188 0 0 0 0 0 0 0 0 0 ENSG00000223440 chr9 32633454 32648685 + AL589642.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223442 chr5 132630589 132664272 - TH2LCRR antisense 101927761 4 0 6 15 5 11 7 1 10 ENSG00000223443 chr8 12137168 12139077 - USP17L2 protein_coding DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008]. 377630 GO:0005829, GO:0005829, GO:0005789, GO:0005634, GO:0005634, cytosol, cytosol, endoplasmic reticulum membrane, nucleus, nucleus, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0004197, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:1900246, GO:1900245, GO:1900027, GO:0090315, GO:0071586, GO:0071108, GO:0070536, GO:0070536, GO:0050691, GO:0043547, GO:0042981, GO:0042981, GO:0042127, GO:0034260, GO:0031064, GO:0030334, GO:0016579, GO:0016579, GO:0016579, GO:0010955, GO:0007093, GO:0006915, GO:0006511, positive regulation of RIG-I signaling pathway, positive regulation of MDA-5 signaling pathway, regulation of ruffle assembly, negative regulation of protein targeting to membrane, CAAX-box protein processing, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein K63-linked deubiquitination, regulation of defense response to virus by host, positive regulation of GTPase activity, regulation of apoptotic process, regulation of apoptotic process, regulation of cell population proliferation, negative regulation of GTPase activity, negative regulation of histone deacetylation, regulation of cell migration, protein deubiquitination, protein deubiquitination, protein deubiquitination, negative regulation of protein processing, mitotic cell cycle checkpoint, apoptotic process, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000223445 chr7 14070535 14071380 - RPL6P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223446 chr9 93094939 93095529 - AL451065.1 antisense 0 1 0 0 5 0 0 1 0 ENSG00000223450 chr1 180000438 180000808 - AL590632.1 processed_pseudogene 0 0 1 0 1 0 0 2 0 ENSG00000223452 chr1 155148544 155148813 + HMGN2P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223455 chr10 120069980 120070159 - AL355298.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223457 chr6 33237799 33239690 + HTATSF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223458 chr13 75876886 75881127 + LMO7DN-IT1 lincRNA 104326189 0 0 0 0 0 0 0 0 0 ENSG00000223459 chr7 143598039 143604839 + TCAF1P1 unprocessed_pseudogene 2 0 2 8 0 8 0 0 0 ENSG00000223460 chr13 29306778 29307785 + GAPDHP69 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223461 chr22 19121529 19124503 + AC004471.1 antisense 36 30 28 3 6 12 5 17 16 ENSG00000223462 chr10 44937508 44955725 + AL353801.1 lincRNA 0 0 2 0 0 2 0 0 1 ENSG00000223466 chr2 195533035 195538681 + LINC01825 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000223467 chrX 95499604 95500036 + CALM1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223469 chr6 43851757 43852333 - AL157371.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223470 chr10 33909238 33917804 + AL117338.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223475 chr7 55573171 55588336 + AC099681.1 antisense 0 0 0 0 0 0 0 0 2 ENSG00000223476 chr7 64933273 64933616 + VN1R42P processed_pseudogene 2 1 3 0 1 0 0 3 2 ENSG00000223478 chr9 128724445 128733194 + AL441992.1 antisense 100506100 26 28 23 40 38 33 36 40 13 ENSG00000223479 chr1 73635216 73715214 + LINC02238 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223482 chr10 87203875 87342612 - NUTM2A-AS1 antisense 728190 129 130 45 74 88 30 128 87 68 ENSG00000223484 chrX 155985370 155986249 - TRPC6P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223485 chr6 169158092 169162924 - LINC01615 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223486 chrX 40009276 40012182 + AC092198.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223487 chrX 12373167 12375133 - FRMPD4-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223488 chr21 22436290 22438349 - MAPK6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223489 chr1 116739981 116742609 - NEFHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223490 chr1 93921268 93921667 - CHCHD2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223492 chr20 53168643 53179550 - AL391097.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223495 chr1 143498785 143499102 + AC239859.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223496 chr16 70246778 70251930 - EXOSC6 protein_coding This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq, Jul 2008]. 118460 GO:0005829, GO:0005730, GO:0005654, GO:0000178, GO:0000177, GO:0000176, cytosol, nucleolus, nucleoplasm, exosome (RNase complex), cytoplasmic exosome (RNase complex), nuclear exosome (RNase complex), GO:0004532, GO:0003723, exoribonuclease activity, RNA binding, GO:0090503, GO:0071051, GO:0071028, GO:0045830, GO:0045190, GO:0045006, GO:0043928, GO:0043488, GO:0034475, GO:0034427, GO:0016075, GO:0006364, RNA phosphodiester bond hydrolysis, exonucleolytic, polyadenylation-dependent snoRNA 3'-end processing, nuclear mRNA surveillance, positive regulation of isotype switching, isotype switching, DNA deamination, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, U4 snRNA 3'-end processing, nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5', rRNA catabolic process, rRNA processing, 34 31 114 117 27 116 55 33 72 ENSG00000223497 chr5 72733833 72734209 + AC063979.1 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223498 chrX 16897651 16898521 - AL929302.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223500 chr7 135128444 135129685 + AC083862.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000223501 chr6 33250272 33272047 - VPS52 protein_coding This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 6293 GO:1990745, GO:0055037, GO:0048471, GO:0032588, GO:0016020, GO:0010008, GO:0005829, GO:0005794, GO:0000938, GO:0000938, EARP complex, recycling endosome, perinuclear region of cytoplasm, trans-Golgi network membrane, membrane, endosome membrane, cytosol, Golgi apparatus, GARP complex, GARP complex, GO:0031267, GO:0019905, GO:0019905, GO:0005515, small GTPase binding, syntaxin binding, syntaxin binding, protein binding, GO:0048611, GO:0042147, GO:0032456, GO:0032456, GO:0015031, GO:0010668, GO:0007041, GO:0007041, GO:0006896, embryonic ectodermal digestive tract development, retrograde transport, endosome to Golgi, endocytic recycling, endocytic recycling, protein transport, ectodermal cell differentiation, lysosomal transport, lysosomal transport, Golgi to vacuole transport, 0 0 0 0 0 0 0 0 0 ENSG00000223502 chr10 51062579 51068553 - AL731537.1 antisense 102724719 0 0 0 0 0 0 0 0 0 ENSG00000223503 chr1 155590601 155591262 - AL353807.1 processed_pseudogene 0 1 1 0 0 0 0 1 0 ENSG00000223504 chr6 68055351 68060502 + AL646090.1 lincRNA 102723883 0 0 0 0 0 0 0 0 0 ENSG00000223505 chr1 203835585 203835912 - AC114402.1 processed_pseudogene 7 7 7 7 6 2 14 6 3 ENSG00000223506 chr14 106683395 106684350 - SLC20A1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223508 chr8 213186 232231 - RPL23AP53 transcribed_processed_pseudogene 2 5 2 9 3 10 5 5 6 ENSG00000223509 chr15 32519848 32536926 - AC135983.2 transcribed_processed_pseudogene 2 15 61 10 10 52 16 4 22 ENSG00000223510 chr17 14235673 14236862 - CDRT15 protein_coding 146822 1 0 0 0 0 0 0 0 0 ENSG00000223511 chrX 1732584 1763212 + AL683807.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223513 chr3 41859350 41859594 - ATP6V0E1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223514 chr7 81335106 81335183 + AC004866.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223516 chrX 148546878 148547397 + AFF2-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000223517 chrY 14276212 14277489 - AC010723.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223518 chr15 36798596 36818459 - CSNK1A1P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223519 chr1 246771837 246839611 - KIF28P transcribed_unitary_pseudogene 0 5 1 0 2 1 5 3 4 ENSG00000223522 chr2 28307691 28310459 - AC093690.1 antisense 17 25 16 11 17 27 27 26 23 ENSG00000223523 chr2 188598791 188839445 - AC092598.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000223525 chr1 174896958 174897996 + RABGAP1L-IT1 sense_intronic 0 0 1 0 1 0 2 0 3 ENSG00000223528 chr10 126988095 127026507 - AL359094.1 antisense 0 0 0 3 1 0 3 0 0 ENSG00000223529 chr3 184026369 184027756 - EEF1A1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223530 chr2 23330664 23332044 - AC012506.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223534 chr6 32659880 32660729 + HLA-DQB1-AS1 antisense 106480429 9 0 5 13 0 21 13 0 11 ENSG00000223536 chr2 16728124 16767555 + AC008164.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223537 chr6 109487906 109506800 + AL109947.1 antisense 2 1 0 1 0 4 0 0 1 ENSG00000223538 chr12 121107220 121107490 + AC079602.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223539 chr5 135742462 135746356 - AC011431.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223540 chr10 121713607 121713994 + RPS15AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223542 chr6 133435077 133439464 - AL024497.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223543 chr13 36741878 36742465 - TCEAL4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223544 chr17 15588852 15589084 + AC005838.1 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000223546 chrX 102769161 102885406 + LINC00630 lincRNA 1 4 5 0 0 0 0 1 15 ENSG00000223547 chr19 12064699 12081565 + ZNF844 protein_coding 284391 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 206 142 262 404 421 547 393 274 285 ENSG00000223548 chr5 132003592 132007022 + AC034228.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223549 chr2 120215181 120217279 + MTND5P28 processed_pseudogene 3 4 7 2 4 2 5 0 3 ENSG00000223550 chr7 80377554 80377835 - SNRPBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223551 chr9 128342153 128342770 + TMSB4XP4 processed_pseudogene 26 21 35 19 11 21 9 17 20 ENSG00000223552 chr3 46364955 46407059 - AC098613.1 antisense 3 11 6 13 25 13 5 14 0 ENSG00000223553 chr22 20602595 20656914 - SMPD4P1 transcribed_unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000223554 chr2 139824896 139825877 - AC078851.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223555 chrY 17782210 17784815 + USP9YP23 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223558 chr7 64085560 64086576 + TRIM60P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223559 chr7 56288230 56291425 + AC073136.1 processed_pseudogene 7 3 5 1 8 16 2 8 8 ENSG00000223561 chr7 25593351 25750994 - AC005165.1 lincRNA 646588 0 0 0 0 0 0 0 0 0 ENSG00000223563 chr21 26889376 26939742 + AP001599.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223564 chr2 94759259 94760279 - CYP4F32P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223565 chr10 83735506 83736493 + AC069540.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223566 chr7 63567743 63585075 - TNRC18P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223568 chr9 14040716 14041861 - RPL3P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223569 chr4 9234385 9236334 + USP17L15 protein_coding 100288520 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000223570 chr1 226188870 226189221 - AL592045.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223571 chrX 2334295 2336410 - DHRSX-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000223572 chr15 43692886 43699222 + CKMT1A protein_coding Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]. 548596 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0016301, GO:0005524, GO:0005515, GO:0004111, kinase activity, ATP binding, protein binding, creatine kinase activity, GO:0046314, GO:0016310, GO:0006600, phosphocreatine biosynthetic process, phosphorylation, creatine metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000223573 chr19 5558167 5578349 - TINCR protein_coding 9 11 1 20 11 10 22 11 13 ENSG00000223574 chrX 86128893 86129570 - TPMTP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223575 chr1 119084998 119085954 - RBMX2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223576 chr13 19841827 19843672 + AL355001.1 antisense 5 2 5 1 6 1 1 1 0 ENSG00000223581 chr10 7097152 7097675 + AL590095.1 lincRNA 105376386 0 0 0 0 0 0 0 0 0 ENSG00000223583 chr1 26454653 26455187 - AL513365.1 processed_pseudogene 2 0 3 2 7 0 9 0 1 ENSG00000223584 chr7 90631906 90632568 + TVP23CP1 processed_pseudogene 1 0 5 1 4 0 0 2 7 ENSG00000223586 chr6 133821147 133851800 + LINC01312 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223587 chr3 23757 24501 + LINC01986 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223589 chr1 38080572 38080911 - AL139158.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223591 chrX 51710512 51712131 + CENPVL1 protein_coding 389857 GO:0046872, GO:0016846, metal ion binding, carbon-sulfur lyase activity, 0 0 0 0 0 0 0 0 0 ENSG00000223592 chrX 78165696 78172422 - FNDC3CP unitary_pseudogene 1 0 0 2 0 2 1 0 0 ENSG00000223593 chr14 34416687 34417602 - AL356806.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223595 chr7 123230120 123230741 - LYPLA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223597 chr5 7373117 7379790 + LINC02142 lincRNA 105374644 0 0 0 0 0 0 0 0 0 ENSG00000223598 chr6 151088103 151228447 - AL138733.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223599 chr1 153852106 153853414 - AL513523.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223600 chrY 2995067 2995273 - EEF1A1P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223601 chr10 22208814 22210021 - EBLN1 protein_coding 340900 0 0 0 0 0 0 0 0 0 ENSG00000223602 chr9 64878790 64889063 - AC125634.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223603 chr1 159704983 159705607 - CRPP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223604 chr2 149439897 149440427 + AC007394.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223605 chr4 117249924 117250188 + AC107399.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223608 chr21 38006544 38010618 - DSCR4-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000223609 chr11 5232678 5243657 - HBD protein_coding The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]. 3045 GO:0072562, GO:0031838, GO:0005833, GO:0005829, blood microparticle, haptoglobin-hemoglobin complex, hemoglobin complex, cytosol, GO:0046872, GO:0043177, GO:0031721, GO:0031720, GO:0020037, GO:0019825, GO:0005515, GO:0005344, GO:0004601, metal ion binding, organic acid binding, hemoglobin alpha binding, haptoglobin binding, heme binding, oxygen binding, protein binding, oxygen carrier activity, peroxidase activity, GO:0098869, GO:0042744, GO:0015671, GO:0007596, cellular oxidant detoxification, hydrogen peroxide catabolic process, oxygen transport, blood coagulation, 2 0 0 12 0 0 2 0 0 ENSG00000223611 chrX 24310907 24313315 - SUPT20HL2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223612 chr1 145233001 145233519 + AC241585.1 processed_pseudogene 2 3 4 13 1 8 4 8 5 ENSG00000223614 chr7 64207090 64220508 + ZNF735 protein_coding This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and nine C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]. 730291 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000223615 chr9 107115784 107115954 + AL807761.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223617 chr13 109281973 109297690 + LINC00370 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000223619 chr2 202614214 202614704 + MTCO1P17 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000223620 chr4 126563509 126564776 + RBM48P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223621 chr9 5855781 5856426 - AK4P4 processed_pseudogene 4 1 0 1 0 3 2 0 0 ENSG00000223622 chr6 52805613 52813460 - GSTA6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223623 chr6 25053627 25057073 - AL133268.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223624 chr1 25888970 25889109 + AL033528.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223625 chr13 19458398 19458718 - CYCSP32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223626 chr13 112322567 112331225 - LINC01044 lincRNA 104266956 0 0 0 0 0 0 0 0 0 ENSG00000223628 chr15 25580969 25581122 + AC023449.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223629 chr8 6950726 6951599 - DEFA8P unprocessed_pseudogene 449491 0 0 0 0 0 0 0 0 0 ENSG00000223631 chr2 131402901 131409049 + LINC01120 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223634 chr2 23357516 23360376 - AC012506.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223635 chr1 229508501 229514272 + AL121990.1 antisense 2 0 0 0 2 0 0 2 0 ENSG00000223636 chrY 25431156 25437315 + UBE2Q2P5Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223637 chrY 21394991 21401585 - RBMY2EP transcribed_unprocessed_pseudogene 159125 1 0 0 0 0 0 0 0 0 ENSG00000223638 chr19 55759014 55763175 + RFPL4A protein_coding 342931 GO:0005737, GO:0005654, GO:0000785, cytoplasm, nucleoplasm, chromatin, GO:0046872, GO:0005515, GO:0004842, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0045893, GO:0016567, positive regulation of transcription, DNA-templated, protein ubiquitination, 0 0 1 0 0 0 0 0 4 ENSG00000223640 chr2 9081395 9081727 - RPL30P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223641 chrY 25183643 25184773 - TTTY17C lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223642 chr2 159386367 159404636 + AC008277.1 antisense 417 487 481 115 359 324 237 248 238 ENSG00000223643 chr1 16851257 16853129 - BX284668.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223646 chr7 112622378 112708080 + AC002463.1 lincRNA 101928012 0 0 0 0 0 0 0 0 0 ENSG00000223647 chr2 31793823 31803980 - LINC01946 lincRNA 105374449 0 0 0 0 0 0 0 0 0 ENSG00000223648 chr14 106657725 106658258 - IGHV3-64 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000223649 chr1 211492255 211492917 + AC105275.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223650 chrX 74105572 74107958 + UHRF2P1 processed_pseudogene 0 2 0 2 0 0 0 0 7 ENSG00000223651 chr20 41997131 41999397 - AL049812.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223652 chr5 123087248 123090299 - AC106786.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223653 chr1 85276715 85448124 + AL078459.1 antisense 0 1 3 1 2 5 1 1 0 ENSG00000223655 chrY 25918323 25918895 - RAB9AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223656 chr1 99698242 99699178 + HMGB3P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223657 chr7 136938280 136938553 - KRT8P51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223658 chr2 43675151 43676322 - C1GALT1C1L protein_coding 728819 GO:0016021, integral component of membrane, GO:0016263, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity, GO:0016267, O-glycan processing, core 1, 0 0 0 0 0 0 0 0 0 ENSG00000223660 chr19 54199454 54199971 - AC245052.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223662 chr21 14582202 14598303 + SAMSN1-AS1 antisense 100874190 1 1 6 3 0 0 1 0 0 ENSG00000223663 chr1 1378666 1379032 + NDUFB4P8 processed_pseudogene 0 0 0 0 0 1 2 1 0 ENSG00000223665 chr7 91638847 91643512 - AC000058.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223668 chr3 39358545 39359922 + EEF1A1P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223669 chr20 62732566 62735347 - AL357033.2 antisense 0 0 0 0 1 0 0 0 4 ENSG00000223671 chr21 35472095 35472432 - RPL34P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223672 chr9 13322806 13323450 - AL162386.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223675 chr1 94585556 94592297 - AC093117.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223676 chr13 50361410 50361763 - RPL34P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223677 chr6 29026680 29027607 - OR2AD1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223678 chr9 33402857 33409948 + AL356218.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223679 chr22 22990690 23008356 + AC245054.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223683 chr1 63262113 63262707 + RPSAP65 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223684 chr9 21209189 21209779 - IFNWP18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223685 chr13 38050817 38143232 - LINC00571 lincRNA 100874188 0 0 0 0 0 0 0 0 0 ENSG00000223688 chr11 3559657 3560022 + RPS24P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223691 chr2 22188336 22190313 + AC068044.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223692 chr21 46462471 46469306 + DIP2A-IT1 sense_intronic 100862692 1 8 0 3 4 6 8 5 7 ENSG00000223694 chr1 240170155 240171291 + ADH5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223695 chr22 36388626 36396517 + FO393418.1 lincRNA 0 2 1 0 0 0 0 1 0 ENSG00000223697 chr8 132838117 132844298 - AF230666.1 antisense 425 317 611 273 315 253 279 255 226 ENSG00000223698 chrY 24168187 24174494 + GOLGA6L11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223701 chr6 149884431 149919508 + RAET1E-AS1 antisense 100652739 0 0 0 0 0 0 0 0 0 ENSG00000223702 chr6 31380411 31380839 + ZDHHC20P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223703 chr2 91736726 91767439 + AC027612.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223704 chr22 26858634 26865786 + LINC01422 lincRNA 15 23 14 28 46 21 32 15 21 ENSG00000223705 chr7 75410322 75416787 + NSUN5P1 transcribed_unprocessed_pseudogene This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. 155400 GO:0005730, nucleolus, GO:0008168, GO:0003723, methyltransferase activity, RNA binding, GO:0070475, GO:0001510, rRNA base methylation, RNA methylation, 51 49 63 94 69 102 70 38 59 ENSG00000223707 chrX 85849410 85850139 - SFR1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223709 chr11 90057605 90062999 - TRIM64EP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223710 chr2 51775258 51775402 - CRYGGP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223711 chr3 195544048 195550581 + AC069213.1 antisense 0 8 5 10 14 14 6 2 16 ENSG00000223714 chrX 41275739 41276778 + LINC02601 lincRNA 105373185 0 0 0 0 0 0 0 0 0 ENSG00000223715 chr3 176604143 176635532 - LINC01208 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223716 chr9 38360427 38376430 + AL135785.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223717 chr13 58751047 58752233 - DNAJA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223718 chr7 135660039 135660647 + AC093107.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223719 chr3 6692319 6693088 + AC069277.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223720 chr1 48172972 48206857 + AL109659.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223721 chr7 138701607 138703062 + UQCRFS1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223722 chr12 31754720 31755121 + AC023157.1 processed_pseudogene 11 28 29 114 184 253 74 82 133 ENSG00000223723 chrX 36962196 36963425 - BX842568.2 processed_pseudogene 0 1 3 0 0 0 1 1 1 ENSG00000223724 chr13 49044079 49046794 - RAD17P2 processed_pseudogene 0 1 4 2 3 3 0 0 0 ENSG00000223725 chr2 207239864 207529795 - AC009226.1 antisense 40 48 56 39 61 77 49 59 78 ENSG00000223726 chr22 27307483 27318538 - AL020994.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223727 chr3 3250687 3627296 - AC034195.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223728 chr1 147840962 147842359 + AC239801.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223729 chr9 134293931 134295397 - LINC02247 lincRNA 105376310 0 0 0 0 0 0 0 0 0 ENSG00000223730 chr22 44901547 44902471 + Z83838.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223731 chrX 24362761 24365378 + SUPT20HL1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223732 chr13 44982077 45083125 - AL359706.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223733 chrX 104803915 104804440 + RPL18AP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223734 chr2 20052134 20054496 + AC098828.2 lincRNA 0 0 0 5 0 0 1 1 0 ENSG00000223735 chr11 5314772 5315684 - OR51B3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223738 chr3 74101349 74103553 + AC016930.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223739 chr2 65511771 65512076 - AC007389.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223740 chr7 56525428 56526113 - AC092447.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223741 chr21 36485983 36487411 - PSMD4P1 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000223742 chrX 28571532 28586395 - AC112495.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000223744 chrY 6328052 6343323 + RBMY2GP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223745 chr1 93262186 93346025 - CCDC18-AS1 processed_transcript 184 143 269 211 151 261 210 132 202 ENSG00000223746 chr10 43741437 43742350 - ELOCP30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223749 chrX 134543337 134546632 - MIR503HG lincRNA 0 3 1 1 3 1 0 3 0 ENSG00000223750 chr20 1665283 1708200 - SIRPB3P unprocessed_pseudogene 5 18 10 8 30 20 18 14 12 ENSG00000223751 chr2 742488 747767 + AC116609.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223753 chrX 101683780 101684449 + AC234775.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223754 chr2 24199839 24201698 - AC008073.1 antisense 0 0 0 0 1 0 0 0 0 ENSG00000223756 chr11 3380961 3408978 + TSSC2 transcribed_unprocessed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000223760 chr2 130129621 130139417 + MED15P9 transcribed_unprocessed_pseudogene 285103 0 0 0 0 0 0 0 0 0 ENSG00000223761 chr10 87591607 87606024 - AL138767.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223764 chr1 916865 921016 - LINC02593 lincRNA 100130417 0 0 0 0 0 0 0 0 0 ENSG00000223765 chr6 71450834 71458874 + LINC01626 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000223768 chr21 45288050 45297806 + LINC00205 bidirectional_promoter_lncRNA 642852 49 69 65 43 80 74 68 67 77 ENSG00000223770 chr7 82009177 82029955 + AC006145.1 antisense 101927356 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000223772 chrX 86304367 86305086 + GEMIN8P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223773 chrX 2609348 2657229 + CD99P1 transcribed_unprocessed_pseudogene 401577 0 0 0 0 0 0 0 0 0 ENSG00000223774 chr1 201893842 201899978 + AL513217.1 antisense 0 0 0 0 0 1 0 0 0 ENSG00000223776 chr1 236523052 236524508 - LGALS8-AS1 antisense 100287902 22 14 33 18 33 27 35 19 21 ENSG00000223777 chr2 176809426 176809859 - AC092162.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223779 chr1 143745249 143760669 + AC239800.1 unprocessed_pseudogene 2 4 3 0 1 4 0 1 3 ENSG00000223782 chr13 26977543 26977789 + RPS21P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223783 chr3 195836193 195860404 - LINC01983 lincRNA 0 2 0 1 1 0 0 1 0 ENSG00000223784 chr10 6709530 6740532 + LINP1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223786 chr6 74069451 74690727 + AL357507.1 lincRNA 101928516 0 0 0 0 0 0 0 0 0 ENSG00000223787 chr1 92580476 92580821 - AL354890.1 processed_pseudogene 1 0 3 0 0 0 0 0 0 ENSG00000223788 chr2 232442034 232447418 + DIS3L2P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223791 chr3 23804024 23806905 - UBE2E1-AS1 antisense 100874092 0 0 0 0 0 0 1 0 0 ENSG00000223794 chr1 179255733 179256081 + COX5BP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223795 chr9 134505472 134521442 + AL669970.1 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000223797 chr3 40313802 40453329 - ENTPD3-AS1 antisense 285266 21 8 5 9 10 17 10 5 10 ENSG00000223799 chr21 33263873 33266260 - IL10RB-DT antisense 803 631 711 508 702 719 536 410 472 ENSG00000223800 chr10 55468327 55469222 + AL355314.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223802 chr19 18868545 18896727 - CERS1 protein_coding This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]. 10715 GO:0043231, GO:0016021, GO:0016020, GO:0005789, GO:0005783, GO:0005783, intracellular membrane-bounded organelle, integral component of membrane, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0050291, GO:0050291, GO:0050291, GO:0016410, sphingosine N-acyltransferase activity, sphingosine N-acyltransferase activity, sphingosine N-acyltransferase activity, N-acyltransferase activity, GO:0072721, GO:0071492, GO:0051974, GO:0046513, GO:0046513, GO:0046513, GO:0036146, GO:0035690, GO:0030148, GO:0030148, cellular response to dithiothreitol, cellular response to UV-A, negative regulation of telomerase activity, ceramide biosynthetic process, ceramide biosynthetic process, ceramide biosynthetic process, cellular response to mycotoxin, cellular response to drug, sphingolipid biosynthetic process, sphingolipid biosynthetic process, 0 0 0 1 3 2 1 3 8 ENSG00000223803 chr3 186900198 186900557 + RPS20P14 processed_pseudogene 6 6 4 16 3 15 5 5 10 ENSG00000223804 chr1 120267334 120341871 - AC244669.1 transcribed_unprocessed_pseudogene 38 34 91 27 46 43 18 35 34 ENSG00000223806 chr21 38739021 38747460 - LINC00114 lincRNA 400866 0 1 0 0 0 0 0 0 0 ENSG00000223807 chr9 32926051 32926450 + BOLA3P4 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000223808 chr10 8970125 8973468 + AC044784.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223809 chrX 135123239 135123604 - AC234771.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223810 chr1 151949523 151950912 - KRT8P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223811 chr6 113357003 113367944 - AL589684.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223812 chr3 191425526 191591097 + AC073365.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223813 chr7 29514225 29563670 - AC007255.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223814 chr1 47761132 47765547 - AL691459.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223815 chr13 60144698 60153505 + DIAPH3-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223816 chr2 92034522 92035000 - IGKV1OR2-2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223817 chr10 71508153 71511873 - CDH23-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223819 chrX 100800303 100800784 - PPIAP89 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223820 chr10 87817928 87845612 + CFL1P1 transcribed_unprocessed_pseudogene 142913 6 4 4 1 5 3 2 1 4 ENSG00000223821 chr6 73492025 73492742 - AL603910.1 antisense 3 3 8 9 5 12 4 1 3 ENSG00000223822 chr21 23390258 23390996 + EEF1A1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223823 chr1 1137017 1144056 + LINC01342 lincRNA 254099 0 0 0 0 0 0 0 0 0 ENSG00000223824 chr2 189917254 189917758 - AC019178.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223825 chr2 202201384 202201886 - DAZAP2P1 processed_pseudogene 3 0 3 0 1 0 0 2 0 ENSG00000223826 chr2 101479390 101486822 + LINC01870 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223828 chr1 174756850 174757119 - BANF1P4 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000223829 chr7 46969702 47027481 + AC004870.2 processed_transcript 105375267 0 0 0 0 0 0 0 0 0 ENSG00000223831 chr22 30598309 30606687 + AC005006.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000223834 chr10 31602862 31606218 + AL161935.1 lincRNA 3 0 0 1 3 7 0 4 0 ENSG00000223836 chr7 57820032 57820410 - AC023141.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223837 chr6 32970232 32970886 + AL645941.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000223838 chr7 19353534 19578606 + AC007091.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223839 chr9 40321299 40329221 + FAM95B1 lincRNA 100133036 0 0 0 1 0 0 1 0 0 ENSG00000223841 chr10 57955295 57957178 + AC006484.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223842 chr1 219222248 219225497 - AL360093.1 lincRNA 1 0 0 0 5 0 1 1 0 ENSG00000223843 chr22 43516107 43537117 + EFCAB6-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223845 chr7 64443802 64444742 - VN1R40P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223847 chr1 187714243 187714735 - AL645474.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223849 chr9 95123521 95123868 + AL354893.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223850 chr2 15920399 15936017 + MYCNUT lincRNA 103752554 0 0 0 0 0 0 0 0 0 ENSG00000223855 chr7 520391 525232 + HRAT92 lincRNA 441307 1 0 0 0 1 3 0 0 0 ENSG00000223856 chrY 25709908 25713557 - RAB9AP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223859 chr2 67040546 67041966 + AC007403.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223861 chr1 151557446 151557940 + AL365436.1 processed_pseudogene 3 0 1 0 3 0 5 0 0 ENSG00000223863 chr2 64486353 64500904 + LINC01805 lincRNA 105374774 0 0 0 0 0 0 0 0 0 ENSG00000223864 chr20 38977711 38978422 - NPM1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223865 chr6 33075926 33087201 + HLA-DPB1 protein_coding HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]. 3115 GO:0071556, GO:0042613, GO:0032588, GO:0030669, GO:0030666, GO:0030658, GO:0016020, GO:0012507, GO:0010008, GO:0009986, GO:0005886, GO:0005765, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, MHC class II protein complex, trans-Golgi network membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, membrane, ER to Golgi transport vesicle membrane, endosome membrane, cell surface, plasma membrane, lysosomal membrane, Golgi membrane, GO:0042605, GO:0005515, peptide antigen binding, protein binding, GO:0060333, GO:0050870, GO:0050852, GO:0042102, GO:0032729, GO:0019886, GO:0019886, GO:0002250, interferon-gamma-mediated signaling pathway, positive regulation of T cell activation, T cell receptor signaling pathway, positive regulation of T cell proliferation, positive regulation of interferon-gamma production, antigen processing and presentation of exogenous peptide antigen via MHC class II, antigen processing and presentation of exogenous peptide antigen via MHC class II, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000223866 chr7 20641558 20641948 - AC002486.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223867 chr7 16938225 16938557 + AC098592.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223869 chr1 214943123 214943540 + AC099563.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223870 chr21 25127469 25135247 + AP000233.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223872 chr7 157501322 157503577 + AC006372.1 lincRNA 2 1 0 0 0 1 0 1 0 ENSG00000223873 chr2 181694442 181694900 + SAP18P2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000223874 chr2 216870772 216871639 + LINC01921 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223875 chr22 15852990 15893942 + NBEAP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223876 chr10 91544852 91545098 + RPS27P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223877 chr15 22152276 22152897 - RPS8P10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223878 chr17 15506866 15507354 + PPIAP53 processed_pseudogene 1 4 1 1 4 2 7 1 0 ENSG00000223880 chr13 75250480 75252012 + LINC01078 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223881 chr1 198597724 198598868 - AL157402.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223882 chr3 184006338 184011419 + ABCC5-AS1 antisense 100873982 0 2 0 0 0 0 0 0 0 ENSG00000223883 chr1 69055898 69185003 + LINC01707 lincRNA 105378785 0 0 0 0 0 0 0 0 0 ENSG00000223884 chr2 7062346 7077901 - AC068481.1 antisense 101929452 4 4 3 0 5 4 3 3 4 ENSG00000223885 chr8 7279770 7282780 + FAM90A13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223886 chr7 105530209 105530671 + AC073073.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000223889 chr7 63393749 63394109 - AC073188.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223890 chr2 205253304 205253503 - AC008171.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223891 chr20 44210960 44226027 + OSER1-DT lincRNA 100505783 213 49 224 128 80 122 96 73 77 ENSG00000223893 chr7 49942251 49944440 - GNL2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223896 chr1 92755794 92756956 + CCNJP2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000223897 chr2 53486144 53486280 - AC069157.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223899 chr3 33033863 33034810 + SEC13P1 processed_pseudogene 2 3 10 0 0 3 0 3 0 ENSG00000223901 chr21 46220269 46225364 + AP001469.1 antisense 0 0 3 1 0 7 6 3 0 ENSG00000223903 chr2 219697799 219698214 + RPL23P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223904 chrX 111434427 111435024 + HMGB1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223905 chr1 76353583 76354246 - AC103592.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223906 chr1 100344477 100345242 + AC104457.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223908 chr5 160023740 160024045 - AC068657.1 processed_pseudogene 0 3 0 3 1 2 0 4 1 ENSG00000223910 chr10 43628817 43674703 + ZNF32-AS3 antisense 414201 0 0 0 0 0 0 0 0 0 ENSG00000223911 chr2 147899401 147902956 - AC009480.1 antisense 2 1 0 0 0 0 0 0 0 ENSG00000223912 chr6 132271982 132273332 + EEF1A1P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223914 chr12 40156113 40211419 + LINC02471 lincRNA 25 16 20 4 10 16 6 25 3 ENSG00000223915 chrY 13230884 13231439 + DPPA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223916 chr3 43484972 43485880 - AC097638.1 processed_pseudogene 1 1 0 0 1 1 0 1 0 ENSG00000223917 chr2 95486480 95488627 - AC009237.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223918 chr9 110727456 110727679 - AL513328.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223920 chr1 61654194 61654908 + AC099791.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000223921 chr2 140220584 140221485 - MTND1P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223922 chr2 38810432 38811654 - ASS1P2 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000223923 chr2 217978707 217992615 + AC010136.1 antisense 105373878 0 0 0 0 0 0 0 0 0 ENSG00000223928 chr10 24157835 24158781 + NUP35P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223930 chr3 178202050 178385417 - AC109779.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223931 chr16 32051825 32052280 + AC142381.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223935 chr2 64395220 64453897 - LGALSL-DT bidirectional_promoter_lncRNA 30 42 12 22 35 7 20 25 3 ENSG00000223940 chrX 152479577 152481024 + KRT8P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223941 chr3 178419201 178457309 + LINC01014 sense_intronic 100874330 0 0 0 0 0 0 0 0 0 ENSG00000223942 chr6 165773201 165775186 - AL590302.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000223944 chr1 37262739 37325100 - AL353604.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223945 chr1 150053864 150055034 + AC244033.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223946 chr6 42030053 42031382 + AL513008.1 lincRNA 3 2 0 2 0 0 6 3 0 ENSG00000223947 chr2 100993676 101002244 - AC016738.1 antisense 0 0 2 1 0 0 2 0 0 ENSG00000223948 chr7 67769629 67770468 - AC092648.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223949 chr1 64094442 64171297 - ROR1-AS1 antisense 101927034 0 0 0 0 0 0 0 0 1 ENSG00000223951 chr2 33056333 33063113 - AL133244.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223953 chr11 119338939 119340940 - C1QTNF5 protein_coding This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]. 114902 GO:0042995, GO:0030133, GO:0016328, GO:0016324, GO:0005923, GO:0005886, GO:0005615, GO:0005581, cell projection, transport vesicle, lateral plasma membrane, apical plasma membrane, bicellular tight junction, plasma membrane, extracellular space, collagen trimer, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0048839, GO:0009306, inner ear development, protein secretion, 0 0 0 0 0 0 0 0 0 ENSG00000223955 chrY 8363536 8363959 - MTND6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223956 chr1 56414963 56415966 + LINC01767 lincRNA 105378744 0 0 0 0 3 0 0 0 0 ENSG00000223958 chrX 52707602 52709933 + AC244505.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223959 chr16 89972586 90002161 + AFG3L1P transcribed_unitary_pseudogene 172 82 76 99 105 128 133 129 76 96 ENSG00000223960 chr2 178413939 178440243 + AC009948.1 antisense 101927027 17 23 49 62 26 58 39 20 43 ENSG00000223962 chr2 148863564 148863804 - UBBP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223963 chr1 240769420 240771534 - THAP12P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223965 chr3 31794470 31796175 + ZNF587P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223966 chr9 70726040 70730856 + AL159990.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000223967 chr6 73526744 73526879 - AL603910.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223968 chr3 27624202 27624456 - AC098614.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223969 chr7 90590619 90597353 - AC002456.1 antisense 6 9 11 42 9 67 30 16 26 ENSG00000223970 chr7 53002420 53003429 + AC074397.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223972 chr1 11869 14409 + DDX11L1 transcribed_unprocessed_pseudogene 100287102 0 0 0 0 1 0 0 0 0 ENSG00000223973 chr2 111383752 111384992 + AC068491.1 transcribed_processed_pseudogene 1 0 0 0 3 0 0 0 0 ENSG00000223974 chr7 64551498 64552066 + BNIP3P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223975 chr21 43465309 43467298 + AP001048.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000223976 chr2 175842887 175843302 + EXTL2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223977 chr2 83218890 83219105 - AC138623.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223978 chrY 24985201 24986476 - ZNF736P1Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223979 chr17 17674026 17677688 - SMCR2 lincRNA 105371564 0 0 0 0 0 0 1 0 0 ENSG00000223982 chr1 231475956 231476288 - SNRPD2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223984 chr10 21624592 21626286 - HNRNPRP1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000223985 chr2 490944 492655 - LINC01874 lincRNA 727944 0 0 0 0 0 0 0 0 0 ENSG00000223986 chr3 193765681 193766003 + AC069421.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000223987 chr10 5304431 5304865 - RPL26P28 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000223989 chr1 9848318 9850154 + AL357140.1 antisense 5 18 7 7 21 16 3 18 7 ENSG00000223991 chr2 240981515 240986072 - AC104809.1 antisense 0 0 0 0 2 0 0 0 0 ENSG00000223993 chr10 85431943 85432515 - AC025428.1 lincRNA 101929646 0 0 0 0 0 0 0 0 0 ENSG00000223995 chrX 128838441 128838834 - RPL32P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000223997 chr14 22438547 22438554 + TRDD1 TR_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000223999 chr22 22692778 22693312 - AC244250.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224000 chr1 172906900 172907684 + Z97198.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224001 chr9 98234709 98235567 + AL360081.1 processed_pseudogene 0 3 0 0 5 17 16 12 0 ENSG00000224003 chr22 25647261 25649232 + YES1P1 processed_pseudogene 1 3 4 3 2 7 8 0 1 ENSG00000224004 chr14 53991101 53991995 - ATP5F1CP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224007 chr2 148295656 148296679 - AC019070.1 processed_pseudogene 0 1 0 0 1 0 0 0 0 ENSG00000224008 chr20 55420336 55427197 - LINC01441 lincRNA 101927796 0 0 0 0 0 0 0 0 0 ENSG00000224011 chr17 60727165 60727482 - AC110602.1 processed_pseudogene 0 0 0 0 0 0 0 0 5 ENSG00000224012 chr5 163709210 163709514 - AC116917.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224014 chr1 247175256 247175525 + AL390728.3 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000224015 chr5 132179234 132181128 - AC063976.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224016 chr7 149891191 149909704 - AC092681.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224017 chr7 41101604 41133507 + LINC01449 lincRNA 101928773 0 0 0 0 0 0 0 0 0 ENSG00000224018 chr21 24155170 24188342 - AP000470.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224019 chr2 185956587 185957063 - RPL21P32 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000224020 chr9 124658467 124698631 + MIR181A2HG antisense 2 0 0 0 0 4 0 1 6 ENSG00000224023 chr10 125700436 125719566 - FLJ37035 lincRNA 399821 0 0 0 0 0 0 1 0 0 ENSG00000224025 chr9 68609125 68611984 + AL353616.1 processed_pseudogene 1 3 2 0 5 2 3 2 7 ENSG00000224027 chr22 27563839 27573573 - AL133456.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224028 chr2 140103583 140131780 - LINC01853 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224029 chr6 150624677 150626086 + AL450344.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000224031 chrX 103626076 103626492 - TCEAL3-AS1 antisense 0 0 2 0 0 0 0 0 0 ENSG00000224032 chr5 112160526 112164276 + EPB41L4A-AS1 lincRNA 24 6 28 46 19 73 29 10 22 ENSG00000224033 chrY 18022299 18023908 + CDY8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224034 chr10 5266033 5271236 - LINC02561 lincRNA 110806285 0 1 4 1 2 0 0 0 3 ENSG00000224035 chrY 13083790 13095805 + SFPQP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224038 chr9 39384506 39405305 - BX005214.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224039 chr3 16692745 16694202 - CDYLP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224040 chr1 182942115 182942404 - HMGN1P4 processed_pseudogene 1 1 1 0 0 1 2 2 0 ENSG00000224041 chr2 90114838 90115402 + IGKV3D-15 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000224042 chr7 117263917 117264388 + MTND4P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224043 chr2 134735464 134918710 - CCNT2-AS1 antisense 7 0 4 12 4 1 6 5 1 ENSG00000224045 chr9 135588002 135591975 + PAEPP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224046 chr7 87151423 87152420 - AC005076.1 antisense 101927420 2 5 2 2 1 5 0 2 4 ENSG00000224048 chr2 150612381 150635348 + AC104777.1 lincRNA 101929282 0 0 0 0 0 0 0 0 0 ENSG00000224049 chr3 187796187 187805258 + AC108681.1 lincRNA 1 0 1 0 0 3 3 0 0 ENSG00000224050 chr22 32273420 32277186 + AL008723.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224051 chr1 1324756 1328897 + CPTP protein_coding 80772 GO:0016020, GO:0010008, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005794, GO:0005640, membrane, endosome membrane, plasma membrane, cytosol, cytosol, cytosol, Golgi apparatus, nuclear outer membrane, GO:1902388, GO:1902388, GO:1902388, GO:1902387, GO:1902387, GO:0005543, ceramide 1-phosphate transfer activity, ceramide 1-phosphate transfer activity, ceramide 1-phosphate transfer activity, ceramide 1-phosphate binding, ceramide 1-phosphate binding, phospholipid binding, GO:1902389, GO:1900226, GO:0120009, GO:0046836, GO:0035627, GO:0032691, GO:0010507, GO:0006687, ceramide 1-phosphate transport, negative regulation of NLRP3 inflammasome complex assembly, intermembrane lipid transfer, glycolipid transport, ceramide transport, negative regulation of interleukin-1 beta production, negative regulation of autophagy, glycosphingolipid metabolic process, 115 129 113 46 71 62 44 89 38 ENSG00000224054 chrX 44466691 44468955 + AL022163.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224055 chr15 44063511 44064313 + GAPDHP55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224057 chr7 55179750 55188934 - EGFR-AS1 antisense 100507500 0 0 0 0 0 0 0 0 0 ENSG00000224058 chr2 47731402 47732035 - AC006509.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224059 chr7 85027828 85029692 + HSPA8P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224060 chrY 12339813 12347495 + ARSEP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224061 chr2 106253231 106253717 - AC092106.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224062 chr4 121451541 121451967 + TUBB4BP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224063 chr2 187003220 187554663 + AC007319.1 antisense 0 0 0 0 0 0 0 4 0 ENSG00000224064 chr1 26983628 26984024 + AL356390.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224065 chrX 89367435 89367600 - SRIP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224066 chr1 32204769 32206814 - AL049795.1 antisense 31 44 39 39 54 33 37 41 46 ENSG00000224067 chr9 111802980 111803435 + AL354877.1 processed_pseudogene 2 5 4 8 7 1 16 3 5 ENSG00000224069 chrX 154897561 154898092 - BX842559.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224070 chr2 206259628 206259918 - HMGN1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224071 chr2 66820684 66822570 - AC009474.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224072 chrX 46454097 46457199 - AL139811.1 processed_pseudogene 3 3 3 0 3 2 2 3 0 ENSG00000224074 chr3 24096269 24103238 - LINC00691 lincRNA 152024 0 0 0 0 0 0 0 0 0 ENSG00000224075 chrY 9801153 9813245 + TTTY22 lincRNA 252954 0 0 0 0 0 0 0 0 0 ENSG00000224076 chr2 161422659 161423577 - AC009487.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224077 chr11 117098987 117108170 + AP000936.1 antisense 0 0 0 6 9 7 7 1 1 ENSG00000224078 chr15 24978583 25419462 + SNHG14 processed_transcript 43 33 84 189 46 125 123 30 77 ENSG00000224079 chr7 1074450 1078036 + AC091729.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224080 chr3 37143512 37143958 - UBE2FP1 processed_pseudogene 19 9 16 17 23 17 15 22 27 ENSG00000224081 chr1 94613814 94855426 - SLC44A3-AS1 transcribed_processed_pseudogene 101928079 0 0 0 1 0 0 0 0 0 ENSG00000224082 chr3 5080212 5084429 - UBTFL8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224083 chr9 5096666 5098193 + MTCO1P11 unprocessed_pseudogene 11 3 3 7 8 4 12 8 13 ENSG00000224085 chr3 140902194 140902651 + RPL23AP41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224086 chr22 21938293 21977632 + AC245452.1 antisense 925 801 988 281 459 395 423 386 356 ENSG00000224087 chr2 130107684 130109741 + AC018865.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224089 chrX 120938701 120942023 - CT47A10 protein_coding 728036 0 0 0 0 0 0 0 0 0 ENSG00000224090 chr2 219002215 219015721 + AC097468.1 antisense 100129175 0 0 1 0 0 0 0 0 0 ENSG00000224091 chr11 5205041 5207308 + AC104389.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224092 chr9 1977784 1978547 - AL591644.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224093 chr1 93592199 93605573 + AL109613.1 antisense 0 5 2 2 0 4 2 0 0 ENSG00000224094 chr3 45159774 45160175 - RPS24P8 processed_pseudogene 0 4 1 1 1 2 2 1 4 ENSG00000224095 chr2 102967408 102984429 - LINC01935 lincRNA 105373519 0 0 0 0 0 0 0 0 0 ENSG00000224097 chr4 39480255 39481905 + AC021148.1 transcribed_processed_pseudogene 1 0 0 2 0 4 0 2 0 ENSG00000224099 chr2 195448532 195478925 + AC104823.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224100 chr21 42964639 42965363 - AP001630.1 antisense 0 0 0 4 2 0 0 0 0 ENSG00000224101 chr7 36997796 37013630 + ELMO1-AS1 antisense 100861514 52 92 66 13 38 39 25 44 28 ENSG00000224104 chr7 153144313 153144588 - AC079809.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224106 chr9 64465463 64466498 + CYP4F25P unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000224107 chrX 135118955 135120526 - ETDB protein_coding 100129515 0 0 0 0 0 0 0 0 0 ENSG00000224109 chrX 51617024 51618968 - CENPVL3 protein_coding 347549 GO:0046872, GO:0016846, metal ion binding, carbon-sulfur lyase activity, 0 0 0 0 0 0 0 0 0 ENSG00000224110 chr8 129728744 129730445 + MTRF1LP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224114 chr1 206695837 206696269 - AL591846.1 processed_pseudogene 17 17 47 49 78 90 60 77 119 ENSG00000224116 chr7 41693916 41779388 + INHBA-AS1 antisense 285954 1 0 0 1 0 4 0 2 0 ENSG00000224117 chr13 30553670 30554693 + PTPN2P2 processed_pseudogene 0 0 0 0 0 1 0 1 2 ENSG00000224121 chr2 222904640 222905055 - ATG12P2 processed_pseudogene 1 0 1 1 0 2 1 0 0 ENSG00000224122 chr7 39404598 39406346 - POU6F2-AS1 antisense 100861520 0 0 0 0 0 0 0 0 0 ENSG00000224124 chr22 24657481 24658765 - POM121L10P processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000224126 chr17 18677261 18677757 + UBE2SP2 processed_pseudogene 2 7 5 16 14 14 9 9 5 ENSG00000224127 chr1 75127830 75133058 - AC099786.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224128 chr2 5602505 5691488 - LINC01248 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224129 chr1 26519354 26520250 - DPPA2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224132 chr2 237257091 237257676 + AC112715.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224134 chr7 81431731 81432796 + AC004866.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224136 chr7 117882859 117883675 + AC007568.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224137 chr2 207662375 207667024 + LINC01857 lincRNA 0 0 0 3 3 5 0 1 0 ENSG00000224138 chr7 127350128 127351523 + AC000123.1 antisense 11 9 28 12 20 48 10 18 33 ENSG00000224141 chr21 18561265 18760003 - MIR548XHG lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224142 chrX 110305420 110307221 - AMMECR1-IT1 sense_intronic 1 2 1 0 0 0 1 0 0 ENSG00000224144 chr22 22420326 22421310 + ASH2LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224149 chr1 75129974 75132576 - AC099786.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224151 chrY 18833002 18839313 - USP9YP28 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224152 chr2 159615296 159617082 + AC009506.1 antisense 625 680 924 156 381 291 284 383 284 ENSG00000224153 chr3 184399790 184457891 + LINC02054 lincRNA 105374250 0 0 0 0 0 0 0 0 0 ENSG00000224155 chr7 56304678 56305526 - AC073136.2 processed_pseudogene 1 0 0 0 4 0 0 0 1 ENSG00000224157 chr6 28896530 28897322 + HCG14 antisense 414760 0 0 0 0 0 0 0 0 0 ENSG00000224159 chr2 218200434 218201388 + HMGB1P9 processed_pseudogene 5 10 9 17 9 0 10 2 11 ENSG00000224160 chr2 242119856 242120053 - CICP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224161 chr18 59761558 59761905 + RPS26P54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224162 chr10 43732334 43732584 + UQCRHP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224163 chr7 128912732 128914063 - AC025594.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224164 chr6 24742302 24751921 + AL133264.2 lincRNA 105374978 0 0 0 0 0 0 0 0 0 ENSG00000224165 chr2 24971390 25039694 + DNAJC27-AS1 antisense 729723 3 3 9 14 7 41 14 8 8 ENSG00000224166 chrY 17729528 17744596 - PRYP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224167 chr1 112850028 112877871 + AL390729.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224169 chrY 23657839 23659058 - HSFY6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224172 chr7 64735933 64736743 - AC091799.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000224173 chr2 67562067 67574044 + AC007422.1 lincRNA 102724373 0 0 0 0 0 0 0 0 0 ENSG00000224174 chr1 16520694 16521796 + AL137802.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224177 chr2 11393981 11403077 + LINC00570 lincRNA 100874055 0 0 0 1 0 0 5 0 0 ENSG00000224183 chr1 25294164 25294643 - SDHDP6 processed_pseudogene 42 36 25 18 42 50 37 34 13 ENSG00000224184 chr2 11848622 12578348 + MIR3681HG lincRNA 100506457 0 0 0 0 0 0 0 0 0 ENSG00000224185 chr9 64439346 64440180 + SNX18P9 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000224186 chr5 135033280 135358219 + C5orf66 antisense 100996485 812 1141 1276 690 1438 1362 924 1126 1055 ENSG00000224187 chr3 187958775 187976407 - LINC01991 lincRNA 3 4 3 6 6 38 6 8 12 ENSG00000224188 chr13 84020327 84020762 + UBE2D3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224189 chr2 176164051 176188958 - HAGLR antisense 401022 0 0 0 0 0 0 0 0 0 ENSG00000224190 chr10 128912879 128916271 + AL355537.1 lincRNA 728327 0 0 0 0 0 0 0 0 0 ENSG00000224192 chr22 26241331 26254092 - AL080273.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224194 chr2 15668684 15680484 - AC008278.1 antisense 0 0 0 1 1 0 1 0 1 ENSG00000224195 chr10 73813518 73814737 + AC022400.1 antisense 223 254 250 270 329 360 278 221 261 ENSG00000224203 chr1 161536571 161538158 - RPS23P10 unprocessed_pseudogene 11 17 13 12 12 15 21 10 17 ENSG00000224204 chrX 22162733 22172983 - PHEX-AS1 antisense 100873942 0 0 0 0 0 0 0 0 0 ENSG00000224205 chr22 23976872 23991421 - AC253536.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224207 chr4 102734358 102734612 + AC018797.1 processed_pseudogene 8 0 4 3 8 10 7 6 15 ENSG00000224208 chrX 71314912 71315879 - AL590762.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224209 chr1 63159087 63317274 - LINC00466 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000224210 chrY 24494709 24495583 - TRIM60P5Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224215 chr10 23343957 23345181 + AL606469.1 antisense 105376453 0 1 2 0 0 0 0 0 0 ENSG00000224216 chrX 155334858 155351957 - AC234781.1 antisense 6 5 2 1 3 1 2 5 2 ENSG00000224217 chrX 116748530 116748877 - BX119904.1 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000224218 chr4 76758554 76801964 - AC107072.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224219 chr2 193730555 193730689 - AC074290.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224220 chr2 25421117 25427643 + AC104699.1 antisense 7 7 8 3 8 9 7 2 6 ENSG00000224221 chr6 73391038 73391767 - RPS6P8 processed_pseudogene 0 0 0 0 0 3 0 0 6 ENSG00000224222 chr10 69994626 70007836 - AC024601.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224223 chr7 54556970 54571726 + VSTM2A-OT1 sense_overlapping 285878 0 0 0 0 0 0 0 0 0 ENSG00000224224 chrX 18865771 18866554 + HAUS1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224227 chr1 247980872 247991204 + OR2L1P transcribed_unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26247 0 0 0 0 0 0 0 0 3 ENSG00000224228 chr1 172775905 173064015 + AL031599.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224231 chr2 138101884 138105905 + LINC01832 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224232 chr2 241478316 241478993 + AC005104.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224233 chr6 29181510 29182445 + OR2J4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224236 chrX 123116107 123117781 - MRRFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224237 chr3 27214816 27215018 - MINOS1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224238 chr1 119047405 119064785 + WARS2-IT1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224239 chr3 857124 858091 + AC090044.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224240 chrY 26549425 26549743 + CYCSP49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224243 chr13 112107119 112108015 + SOX1-OT lincRNA 100505996 0 0 0 0 0 0 0 0 0 ENSG00000224244 chr17 40687038 40689360 - AC073508.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224245 chr9 94496275 94512879 + AL358232.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224247 chr21 15493932 15496124 - AJ009632.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224250 chr10 121736303 121739730 + AC025947.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224251 chr10 4995488 4997380 + AL391427.1 antisense 0 0 0 1 0 0 0 0 0 ENSG00000224252 chr2 238735263 238735547 - AC113618.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224254 chr17 19605454 19605933 + MTCO1P39 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224255 chr1 52179848 52180553 + PDCL3P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224256 chr22 28835893 28836137 - Z93930.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224257 chr2 214510196 214536890 + VWC2L-IT1 sense_intronic 100885780 0 0 0 0 0 0 0 0 0 ENSG00000224259 chr1 159961218 159984750 + LINC01133 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000224260 chr1 209528455 209567673 - AL023754.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224261 chr1 160266340 160267225 - RPSAP18 processed_pseudogene 1 0 0 2 2 2 2 2 0 ENSG00000224263 chr3 11878830 11879129 - CYCSP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224265 chr10 43323665 43327932 + AC068707.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224267 chr9 63728877 63744910 + AL772155.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224269 chr21 36698773 36701564 - AP000697.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224271 chr22 47631674 47855600 + AL117329.1 lincRNA 284930 0 0 0 0 0 0 0 0 0 ENSG00000224272 chr2 241808312 241812016 - AC131097.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224273 chr7 76108434 76132187 - AC005077.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224274 chr20 15619494 15619819 - ENSAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224276 chr1 155991390 156001787 + AL355388.1 antisense 107985210 8 3 5 3 0 0 5 4 1 ENSG00000224277 chr22 23567064 23573507 + AP000345.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000224278 chr1 188242139 188242678 - AL592447.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224279 chr22 38574931 38575431 - RPS29P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224280 chr7 16583782 16586757 - AC005014.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224281 chrX 119466034 119469098 - SLC25A5-AS1 processed_transcript 100303728 92 94 132 139 90 147 75 105 103 ENSG00000224282 chr5 31822561 31823136 - AC010469.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224286 chr1 170271603 170284208 - LINC01142 lincRNA 284688 0 0 0 0 0 0 0 0 0 ENSG00000224287 chr2 233865437 233868444 - MSL3P1 transcribed_processed_pseudogene 151507 GO:0072487, GO:0035267, GO:0000123, MSL complex, NuA4 histone acetyltransferase complex, histone acetyltransferase complex, GO:0043984, GO:0043968, GO:0043967, GO:0016575, GO:0016573, GO:0006342, histone H4-K16 acetylation, histone H2A acetylation, histone H4 acetylation, histone deacetylation, histone acetylation, chromatin silencing, 0 0 0 0 0 0 0 0 0 ENSG00000224288 chr2 143093056 143094164 - MTCYBP11 processed_pseudogene 5 11 11 8 15 8 17 7 16 ENSG00000224289 chr10 89362294 89363487 + IFIT6P unprocessed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000224291 chr2 88428078 88428615 + AC012671.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224292 chrX 48506523 48508838 - AF196972.1 antisense 101927635 1 0 0 0 0 0 0 0 0 ENSG00000224294 chrX 43176994 43226598 + PINCR lincRNA 101927501 0 0 0 0 0 0 0 0 0 ENSG00000224295 chr11 5518441 5524955 - OLFM5P unitary_pseudogene 2 1 3 4 1 16 4 0 9 ENSG00000224296 chr5 64674853 64675387 + MRPL49P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224297 chr9 74935176 74935696 + AL158825.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224299 chr2 201550524 201551049 + MTATP6P16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224300 chr11 5015138 5016079 + OR51P1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224301 chr10 63123938 63125537 - AL590502.1 antisense 105378328 0 0 0 0 0 5 0 0 0 ENSG00000224302 chr10 102085476 102085730 - AL500527.1 processed_pseudogene 1 0 2 0 0 1 1 0 1 ENSG00000224307 chr9 129282458 129285728 + AL161785.1 lincRNA 101929331 188 97 152 86 109 96 135 128 97 ENSG00000224308 chr1 152930040 152949210 - LINC01527 antisense 101927988 0 0 0 0 0 0 0 0 0 ENSG00000224309 chr21 13038160 13067033 + ANKRD30BP2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224310 chr16 24661422 24671062 - LINC01567 lincRNA 400511 0 0 0 0 0 0 0 0 0 ENSG00000224311 chr1 27229106 27234352 - AL590640.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000224312 chr6 29994437 29995314 - MCCD1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224314 chrX 117399452 117400081 + AC005002.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224315 chr1 8786211 8786913 - RPL7P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224316 chr7 65773620 65802067 + GTF2IP5 unprocessed_pseudogene 0 3 1 1 7 0 2 0 0 ENSG00000224318 chr3 195758 197341 - CHL1-AS2 processed_transcript 101927174 0 0 0 0 0 0 0 0 0 ENSG00000224321 chr1 15792796 15793285 + RPL12P14 processed_pseudogene 1 0 2 2 5 0 1 0 0 ENSG00000224322 chr7 27361843 27409938 + AC004009.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224323 chr2 186488624 186489083 - DPRXP1 processed_pseudogene 0 0 0 4 1 5 1 1 1 ENSG00000224324 chr7 158623188 158623449 - THAP5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224326 chr1 80534978 80584363 - AL136234.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224328 chr6 30703067 30713184 + MDC1-AS1 antisense 106478956 0 0 0 0 1 0 0 0 0 ENSG00000224329 chr13 29872613 29888405 - LINC00297 lincRNA 100874059 0 0 0 0 0 0 0 0 0 ENSG00000224330 chr7 13854355 13859025 - AC005019.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224331 chr2 164687287 164687596 - AC019181.1 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000224333 chr1 32402109 32403115 - GAPDHP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224334 chr22 24686923 24688087 + AP000357.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224335 chr1 148234273 148234489 + AC239809.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224336 chrY 9544917 9547147 - FAM197Y1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224337 chr2 149320593 149321436 + FAM8A3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224338 chr1 11425257 11425821 - MTCYBP45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224339 chrX 37945884 37946775 + AL121578.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000224340 chr1 10054445 10054781 - AL590639.1 processed_pseudogene 0 0 1 2 2 1 0 0 0 ENSG00000224341 chrX 118877886 118879185 - AC006965.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224342 chr2 207173634 207222790 + AC007879.1 lincRNA 4 8 3 7 3 6 16 9 2 ENSG00000224344 chr2 51511058 51511483 + KNOP1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224346 chr2 200844240 200845461 + BICD1P1 processed_pseudogene 0 2 0 0 0 0 0 1 1 ENSG00000224347 chr13 77599755 77606551 - SCEL-AS1 antisense 104355296 0 0 0 0 0 0 0 0 0 ENSG00000224348 chr1 241305580 241305882 - AL592076.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224349 chr6 70412828 70413950 - AL365226.1 antisense 105377849 0 0 0 0 0 0 0 0 0 ENSG00000224351 chr13 39817741 39818049 - CDKN2AIPNLP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224352 chr2 130330142 130330285 - AC132479.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224353 chr17 63507056 63519806 + ACE3P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224354 chr7 141802482 141803487 - MTND2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224356 chr13 100535741 100587146 - AL356966.1 sense_intronic 4 3 0 13 1 0 2 2 0 ENSG00000224357 chr20 39329014 39329924 - ATG3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224358 chr1 165768929 165775176 + AL451074.2 antisense 1 0 1 0 0 0 0 0 0 ENSG00000224359 chr1 240530452 240530862 + AL358176.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224361 chr2 23507043 23524344 - AC011239.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224363 chr1 144641371 144919902 + FP700111.1 lincRNA 0 0 0 2 0 2 3 0 0 ENSG00000224365 chr7 66004017 66004137 + AC073261.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224366 chr19 44570304 44570564 - AC243964.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224367 chr18 58996734 59069338 + OACYLP transcribed_unitary_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000224368 chr7 63404842 63405400 - ARAFP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224370 chr7 56380976 56381312 + AC093392.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224371 chr6 160872888 160926204 - AL391361.2 lincRNA 2 0 0 0 0 0 0 0 0 ENSG00000224372 chr6 30351416 30351550 + HLA-N unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224373 chr14 106627249 106627825 - IGHV4-59 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000224374 chr6 135259996 135260933 + AL023693.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224375 chr7 134684144 134687990 + AC009276.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224376 chr2 231388976 231394991 + AC017104.1 processed_transcript 0 1 0 6 2 4 5 4 0 ENSG00000224382 chr10 4384246 4410612 + LINC00703 lincRNA 100507059 0 0 0 0 0 0 0 0 0 ENSG00000224383 chr17 63998351 64004304 + PRR29 protein_coding 92340 149 130 216 118 52 109 90 42 83 ENSG00000224384 chr6 96785137 96795821 + AL033379.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224387 chr1 2492300 2493258 - AL139246.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224388 chr21 41180097 41180626 + BACE2-IT1 antisense 0 2 1 0 0 0 0 0 0 ENSG00000224389 chr6 32014795 32035418 + C4B protein_coding This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]. 721 GO:0072562, GO:0070062, GO:0045202, GO:0044216, GO:0030425, GO:0030424, GO:0005886, GO:0005615, GO:0005615, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, synapse, other organism cell, dendrite, axon, plasma membrane, extracellular space, extracellular space, extracellular space, extracellular region, GO:0030246, GO:0004866, GO:0001848, carbohydrate binding, endopeptidase inhibitor activity, complement binding, GO:2000427, GO:0045087, GO:0032490, GO:0030449, GO:0010951, GO:0008228, GO:0006958, GO:0006956, GO:0006956, GO:0006956, GO:0006954, positive regulation of apoptotic cell clearance, innate immune response, detection of molecule of bacterial origin, regulation of complement activation, negative regulation of endopeptidase activity, opsonization, complement activation, classical pathway, complement activation, complement activation, complement activation, inflammatory response, 4 9 0 2 7 13 16 16 19 ENSG00000224391 chr2 216590426 216606938 - LINC01280 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224394 chr13 93818424 93836144 - GPC6-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224396 chrX 22435598 22436818 + METTL15P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224397 chr20 50267486 50279795 + SMIM25 lincRNA 100506115 3366 3071 4428 1035 1972 1632 1605 1720 1555 ENSG00000224400 chr2 16354256 16432702 + AC010880.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000224401 chrX 47840963 47841702 - RPL7P57 processed_pseudogene 6 5 5 22 18 14 14 6 2 ENSG00000224402 chr10 45255640 45263252 + OR6D1P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224403 chr3 193993331 193993985 - DPPA2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224404 chr22 34208141 34209262 - Z68323.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224405 chr13 29918647 29926651 - LINC00572 antisense 100861573 0 0 0 0 0 0 0 0 0 ENSG00000224406 chr3 186454982 186493661 - LINC02052 lincRNA 253573 0 0 0 1 0 0 0 0 0 ENSG00000224407 chr1 230280312 230281893 - AL136988.1 antisense 45 41 63 59 51 47 63 46 55 ENSG00000224408 chrY 9183694 9185803 + USP9YP22 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224409 chr1 32717734 32725237 - AC114489.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224410 chr2 125823108 125823315 + AC097499.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224411 chr11 27888838 27891033 - HSP90AA2P processed_pseudogene 27 44 71 137 205 100 66 85 71 ENSG00000224412 chr10 63489461 63489638 + AC022022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224413 chr21 46037052 46039807 + AP001476.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224414 chr2 217693895 217696763 + AC010886.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000224415 chr7 103141349 103141939 - AC007683.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224416 chr9 21278050 21278619 - IFNA22P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224417 chr6 168298069 168302114 - AL606970.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000224418 chr13 98577244 98578830 + STK24-AS1 antisense 0 6 2 18 11 27 9 7 11 ENSG00000224419 chr13 90230384 90231682 + KRT18P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224420 chr19 49688664 49690575 + ADM5 protein_coding 199800 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 1 0 10 4 6 8 1 7 ENSG00000224421 chr21 36388878 36389112 - ATP5MFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224424 chr3 48847572 48851981 + PRKAR2A-AS1 antisense 100506637 30 46 40 30 8 36 22 26 7 ENSG00000224425 chr2 131352214 131353239 - AC073869.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224426 chr3 172603440 172604006 - SLC31A1P1 processed_pseudogene 0 0 1 0 3 0 0 0 0 ENSG00000224427 chr21 32841496 32841811 - AP000281.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224429 chr13 21303515 21348721 - LINC00539 lincRNA 2 0 7 0 1 6 2 7 7 ENSG00000224430 chrX 74161062 74162528 - MKRN5P processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000224431 chr5 132199456 132203487 + AC063976.2 processed_pseudogene 0 0 1 0 0 0 0 1 0 ENSG00000224435 chr22 15622601 15632051 - NF1P6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224436 chr1 232221938 232222174 - BX323014.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224437 chr9 70916997 70917501 - PIGUP1 processed_pseudogene 0 1 1 6 0 4 5 0 0 ENSG00000224438 chr12 2781904 2782371 + RPL23AP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224439 chr10 28436201 28437078 + RPSAP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224440 chrX 146814106 146814726 - CXorf51A protein_coding 100129239 0 0 0 0 0 0 0 0 0 ENSG00000224442 chr2 197028711 197030143 - AC017035.1 processed_pseudogene 10 4 10 9 21 22 25 10 11 ENSG00000224443 chr2 47705468 47705979 + AC006509.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224445 chr1 99472332 99600995 - LINC01708 lincRNA 101928270 0 0 0 0 0 0 0 0 0 ENSG00000224447 chr6 26016379 26016601 + HIST1H1PS2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224448 chr7 99638242 99638767 - AC005020.1 processed_pseudogene 0 0 0 0 1 4 0 0 0 ENSG00000224451 chr13 51598416 51599460 + ATP5PBP1 processed_pseudogene 5 0 2 0 0 0 4 0 4 ENSG00000224452 chr20 32170390 32170790 - RSL24D1P6 processed_pseudogene 3 4 3 2 0 0 1 0 0 ENSG00000224458 chr7 64100305 64150721 + GUSBP6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224459 chr1 15740051 15749896 - SLC25A34-AS1 antisense 110806303 0 1 2 0 4 4 12 8 5 ENSG00000224462 chr1 207165496 207183910 + C4BPAP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224463 chr2 202231696 202231849 + AC079354.2 processed_pseudogene 2 1 0 2 1 0 0 0 0 ENSG00000224464 chr2 23872268 23873014 - PGAM1P6 processed_pseudogene 1 1 1 0 0 3 0 3 1 ENSG00000224465 chr22 22170983 22171556 - SOCS2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224466 chr1 86552625 86553342 - CDCA4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224467 chr2 161096231 161160224 - AC009313.1 antisense 0 1 1 0 1 2 3 1 1 ENSG00000224468 chr1 183138402 183141282 - LAMC1-AS1 antisense 110841583 0 0 0 0 0 0 0 0 0 ENSG00000224469 chr7 137164043 137164612 + AC009517.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224470 chr16 71845991 71885268 + ATXN1L protein_coding 342371 GO:0030425, GO:0005730, GO:0005654, GO:0005634, dendrite, nucleolus, nucleoplasm, nucleus, GO:0005515, GO:0003723, GO:0003677, protein binding, RNA binding, DNA binding, GO:1902035, GO:0048856, GO:0048286, GO:0035176, GO:0030198, GO:0007613, GO:0007612, GO:0007420, GO:0006355, GO:0000122, positive regulation of hematopoietic stem cell proliferation, anatomical structure development, lung alveolus development, social behavior, extracellular matrix organization, memory, learning, brain development, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 1859 1921 2320 853 1417 1701 1153 1144 1465 ENSG00000224471 chrX 102799563 102799883 + MTCO3P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224473 chr10 30403197 30403776 - CCND3P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000224475 chr7 97200708 97201483 - AC073900.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224476 chr19 41169861 41170166 + RPL36P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224477 chr6 160698288 160700632 + AL109933.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224478 chr6 159094093 159116254 + AL356417.1 lincRNA 0 0 0 2 1 8 0 0 0 ENSG00000224479 chr3 63741827 63827445 - AC104162.1 transcribed_unitary_pseudogene 1 1 2 0 0 0 0 1 5 ENSG00000224481 chr1 148295895 148344636 + AC245100.1 lincRNA 0 2 0 0 0 0 0 0 2 ENSG00000224482 chrY 20808776 20811809 - HSFY4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224484 chr7 57776972 57777521 - AC023141.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224485 chrY 17908755 17910806 + USP9YP7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224486 chr6 30359278 30359911 - AL662795.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224488 chr9 17447145 17448543 - SAMM50P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224490 chr2 165933857 165949891 + TTC21B-AS1 processed_transcript 9 6 10 5 5 13 13 7 6 ENSG00000224493 chr1 75521562 75522231 + AC093156.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224494 chr1 81426456 81427605 + HNRNPA3P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224497 chr20 35544430 35544747 - RPL36P4 processed_pseudogene 3 4 0 4 0 2 0 1 0 ENSG00000224498 chr10 108848186 108849561 + MAPKAPK5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224500 chr10 77313941 77315694 + AL731575.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224504 chr10 85432863 85448961 + AC025428.2 lincRNA 101929662 0 0 0 0 0 0 0 0 0 ENSG00000224505 chr17 45150400 45161510 - AC138150.1 antisense 157 167 135 232 400 280 218 181 158 ENSG00000224506 chr6 125674353 125720218 + LINC02523 lincRNA 643623 0 0 0 0 0 0 0 0 0 ENSG00000224509 chr2 104936241 105038496 - AC010884.1 antisense 102724691 0 0 0 0 0 0 0 0 0 ENSG00000224510 chr13 48134358 48134534 - POLR2KP2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000224511 chr13 30103178 30108875 - LINC00365 lincRNA 100874146 0 0 0 0 0 0 1 0 0 ENSG00000224513 chr11 3226061 3232838 + AC109309.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224514 chr3 13650696 13746637 + LINC00620 antisense 285375 0 0 0 0 0 0 0 0 0 ENSG00000224515 chr1 161556290 161557078 - AL590385.1 antisense 1 0 0 1 2 2 0 0 3 ENSG00000224516 chr2 232379635 232381674 - AC068134.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224517 chr13 46852143 46856299 + HTR2A-AS1 antisense 100874082 0 0 0 0 0 0 0 0 0 ENSG00000224518 chrY 14941746 14942715 + AC006989.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224519 chr7 46634614 46634946 + HMGN1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224520 chr1 157073257 157074703 + KRT8P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224521 chr1 248548756 248563839 + AC098483.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224523 chrX 81408938 81427276 + AL445213.1 unprocessed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000224524 chr21 15490530 15490767 - CYCSP42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224525 chr1 242203555 242210827 + AL591686.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224529 chr2 208135394 208137697 - AC093698.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224530 chr20 53421199 53421656 + PPIAP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224531 chr6 11094033 11138733 + SMIM13 protein_coding 221710 GO:0016021, integral component of membrane, 13 28 28 15 17 37 20 10 7 ENSG00000224532 chr6 6758276 6759291 - AL136361.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224533 chrX 155466540 155611616 + TMLHE-AS1 antisense 100507404 8 6 21 10 8 5 4 12 4 ENSG00000224535 chr1 212466816 212467743 - AC092803.1 lincRNA 105372907 0 0 0 0 0 0 0 0 0 ENSG00000224536 chr1 201507241 201534784 + AC096677.1 antisense 5 6 5 4 0 3 7 0 1 ENSG00000224537 chr9 42817105 42823213 - MEP1AP4 unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000224539 chrX 135598927 135615431 + SAGE4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224540 chr1 209232196 209233419 + AC092810.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224541 chr21 26158091 26175824 + AP001439.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000224543 chr19 14489388 14489609 + SNRPGP15 processed_pseudogene 3 7 3 0 2 3 5 1 1 ENSG00000224545 chr7 131520137 131520503 + AC008264.1 processed_pseudogene 0 1 0 0 0 3 0 1 4 ENSG00000224546 chr9 96146007 96147856 + EIF4BP3 processed_pseudogene 29 17 21 19 16 42 11 18 22 ENSG00000224547 chr7 46144937 46145688 + ZNF619P1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000224548 chrX 127796124 127796733 + Z75741.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224549 chr9 22767175 22768316 + AC017067.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224550 chr1 107505203 107505448 + AC114491.1 processed_pseudogene 1 1 0 0 0 0 0 1 0 ENSG00000224551 chr7 97135015 97135561 - HMGB3P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224553 chr2 171374931 171375278 - AC008065.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224555 chr11 3989163 3989463 - AC087441.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000224556 chrX 52422069 52459066 + BX510359.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224557 chr6 33112451 33129084 + HLA-DPB2 transcribed_unprocessed_pseudogene 3116 0 0 0 0 0 0 0 0 0 ENSG00000224559 chr2 131637025 131649615 + LINC01087 lincRNA 101927994 0 0 0 0 0 0 0 0 0 ENSG00000224560 chr4 45414337 45414910 - AC108043.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224563 chr3 188562238 188568666 - LPP-AS1 antisense 100873917 0 1 1 0 1 0 6 2 1 ENSG00000224565 chr20 47391929 47412327 - LINC01754 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224566 chr1 228114997 228115473 - FAM96AP2 processed_pseudogene 1 2 0 3 3 0 0 1 2 ENSG00000224567 chrY 11445708 11446101 - AC134879.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224568 chr2 107529487 107556326 + LINC01886 lincRNA 105373537 0 0 0 0 0 0 0 0 0 ENSG00000224569 chr4 13977166 13978028 + AC095052.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224570 chr1 65576129 65578380 - AC097063.1 processed_pseudogene 0 1 0 0 2 0 0 0 2 ENSG00000224571 chrY 23919905 23921510 + USP9YP13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224573 chr7 32951426 32951656 + AC083863.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224574 chr21 45407386 45410065 - COL18A1-AS2 antisense 100874236 0 0 0 0 0 0 1 0 0 ENSG00000224577 chr2 176637710 176655958 + LINC01117 lincRNA 102724224 0 0 0 0 0 0 0 0 0 ENSG00000224578 chr16 51553436 51647132 + HNRNPA1P48 protein_coding 58 25 66 61 50 76 46 58 45 ENSG00000224579 chr19 54209092 54209418 - AC245052.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224582 chr6 29528750 29533665 + LINC01015 processed_transcript 100507362 0 0 0 0 0 0 0 0 0 ENSG00000224583 chr6 74642384 74652002 + AL356277.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224584 chr1 214612960 214613398 - UBE2V1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224585 chr2 94971954 94972167 - AC103563.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224586 chr6 28525925 28534952 + GPX5 protein_coding This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]. 2880 GO:0005576, extracellular region, GO:0004602, GO:0004601, glutathione peroxidase activity, peroxidase activity, GO:0098869, GO:0055114, GO:0034599, GO:0006629, cellular oxidant detoxification, oxidation-reduction process, cellular response to oxidative stress, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000224589 chrX 27893348 27894059 - AC112492.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224590 chr2 201553688 201554031 + MTND3P16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224592 chr1 38047314 38119025 + AL139158.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224593 chr7 3337889 3338601 + AC092427.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000224594 chr8 48384590 48385049 + RPL29P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224595 chr7 114414244 114419875 - AC073626.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224596 chr10 78943328 79067895 - ZMIZ1-AS1 antisense 18 20 19 4 16 8 4 20 3 ENSG00000224597 chr10 29409402 29487745 + SVIL-AS1 transcribed_unprocessed_pseudogene 102724316 395 369 421 292 357 365 363 298 319 ENSG00000224598 chr21 34135432 34136071 - RPS5P2 processed_pseudogene 2 2 4 0 0 0 0 3 0 ENSG00000224599 chr9 65189995 65193610 - BMS1P12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224600 chr1 171824610 171824959 - AL031864.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224602 chr21 16121310 16121644 - RPS26P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224603 chr9 62444256 62444634 - BX664725.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224604 chr2 16853820 16855284 - AC008069.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224605 chr6 91390313 91393000 - AL080284.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224606 chr2 70467385 70468495 - TGFA-IT1 sense_intronic 0 0 0 0 2 0 5 0 0 ENSG00000224607 chr2 89968867 89969335 + IGKV1D-27 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224609 chr1 59131936 59296491 - HSD52 processed_transcript 729467 4 6 5 8 29 38 14 15 19 ENSG00000224610 chrX 39226103 39299786 - AC108879.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000224611 chr3 172522228 172522444 + AC007919.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000224612 chr2 153171987 153201726 - AC079150.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224613 chr1 103418079 103525483 - AC095032.1 bidirectional_promoter_lncRNA 101928436 0 0 0 0 0 0 0 0 0 ENSG00000224614 chr3 195908076 195911257 + TNK2-AS1 antisense 71 93 177 34 104 127 74 87 100 ENSG00000224616 chr1 100251528 100266179 - RTCA-AS1 lincRNA 5 3 5 4 4 16 0 2 0 ENSG00000224617 chrX 71789386 71789636 - BX276092.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224618 chr3 30626423 30626797 - AC096921.1 processed_pseudogene 4 5 5 2 5 7 6 1 16 ENSG00000224620 chr1 179447578 179448440 - MEF2AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224621 chr1 16159266 16161883 + AL451042.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224622 chr12 55158847 55159723 + OR9R1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224625 chr1 242057085 242060242 + TUBB8P6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224626 chr2 18784807 18787752 + AC106053.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224627 chr2 83594956 83595243 + RPL37P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224628 chr20 31285317 31286835 - AL121723.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000224629 chr7 157263022 157263229 - AC004975.1 processed_pseudogene 0 1 2 2 0 0 7 3 3 ENSG00000224630 chrX 144308834 144309080 - AC234064.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224631 chr16 61055399 61055964 - RPS27AP16 transcribed_processed_pseudogene 45 33 57 88 27 114 111 44 166 ENSG00000224632 chrX 103007461 103008072 + Z73361.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224634 chrY 8350931 8352143 + ZNF736P6Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224635 chr20 38406011 38416797 - AL391095.1 lincRNA 0 2 1 1 2 0 0 0 0 ENSG00000224637 chr2 44166266 44166943 + PDSS1P2 unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000224638 chr2 173880865 173899428 - AC106900.1 lincRNA 15 7 17 17 25 15 15 16 21 ENSG00000224640 chr13 69408216 69408735 - SRSF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224643 chr2 183083405 183108519 - AC064871.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224644 chr9 111574192 111575427 + AL135787.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224645 chr1 151340648 151341966 + AL391069.1 antisense 31 38 60 29 18 72 25 18 74 ENSG00000224646 chr2 74754670 74754819 - AC007387.1 processed_pseudogene 0 4 0 0 0 0 0 0 0 ENSG00000224647 chr17 7330452 7335413 + AC026954.1 unitary_pseudogene 0 0 0 0 0 0 1 0 1 ENSG00000224648 chr9 37383178 37384434 - LINC01627 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224649 chr21 29182027 29187795 - AF124730.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000224650 chr14 106810442 106811131 - IGHV3-74 IG_V_gene 0 0 0 0 5 0 0 0 0 ENSG00000224652 chr3 196142636 196160890 + LINC00885 lincRNA 401109 0 0 0 0 0 0 0 0 0 ENSG00000224653 chr7 57819819 57820627 + AC023141.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224655 chr2 121790444 121796702 + LINC01823 lincRNA 101927801 0 2 0 1 0 0 0 0 0 ENSG00000224656 chrX 47718002 47719099 - AL009172.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224657 chrY 22649245 22658878 + RBMY2BP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224658 chr6 148237585 148283408 - AL513164.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224659 chrX 49322057 49329384 + GAGE12J protein_coding 729396 0 0 0 0 0 0 0 0 0 ENSG00000224660 chr3 15254184 15264493 + SH3BP5-AS1 antisense 100505696 928 1191 2427 746 1282 1403 855 961 1162 ENSG00000224661 chr2 3702585 3704153 - AC010907.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224662 chr9 136779939 136780218 + ATP6V1G1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224664 chrX 114589620 114589935 + RPL36AP53 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224666 chr6 36386831 36393462 + Z84484.1 antisense 0 1 0 0 1 1 1 3 0 ENSG00000224667 chr7 12506007 12507478 + AC013470.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224668 chr1 210859177 210862285 - IPO8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224669 chr7 64582733 64583207 + AC016769.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224670 chr2 194027919 194028164 + AC068135.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224671 chr1 203144694 203152579 - AC105940.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224672 chr2 201102089 201102957 - RPL17P10 processed_pseudogene 7 3 12 9 6 12 7 11 7 ENSG00000224674 chr2 162088259 162090072 + EIF3EP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224675 chr2 154435853 154457438 - AC009227.1 antisense 100144595 0 0 0 0 0 0 0 0 0 ENSG00000224677 chr15 43649123 43649280 + PDIA3P2 unprocessed_pseudogene 1 0 2 0 0 4 0 0 0 ENSG00000224678 chr1 92114803 92115796 - GAPDHP46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224679 chr2 131535187 131536988 - MED15P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224680 chr1 52368677 52369244 + PLA2G12AP1 processed_pseudogene 0 0 1 3 22 15 2 9 2 ENSG00000224681 chr9 40332995 40333460 - BX664727.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224682 chr9 135447446 135450154 + SOCS5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224683 chr7 16208945 16209265 + RPL36AP29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224685 chr1 100651947 100652267 + AC099670.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224686 chr13 78488182 78488513 + ELOCP23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224687 chr1 178091508 178093984 - RASAL2-AS1 lincRNA 100302401 0 0 0 0 0 3 0 0 0 ENSG00000224688 chr22 21141624 21142371 - E2F6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224689 chr19 9689924 9700776 - ZNF812P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224690 chr1 150800473 150801031 + UBE2D3P3 processed_pseudogene 1 0 0 0 3 0 0 0 0 ENSG00000224691 chr1 186176814 186177302 - AL133553.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224692 chrX 103258572 103259581 - Z68694.1 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000224695 chr2 82817538 82818061 - MTND6P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224697 chr10 54599678 54600683 + NEFMP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224698 chr1 108420689 108433184 + AL390038.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224699 chr1 110347116 110443817 + LAMTOR5-AS1 processed_transcript 201 134 218 89 124 111 137 99 107 ENSG00000224700 chr11 131981096 131984661 - AP000844.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224701 chrX 45951762 45952333 - MED28P4 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000224702 chr1 165210627 165213090 + AL390730.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224706 chr7 37116779 37117185 + RPS17P13 processed_pseudogene 0 0 3 0 0 0 0 1 0 ENSG00000224707 chr6 20437821 20440178 + E2F3-IT1 sense_intronic 4 5 4 1 4 0 5 2 0 ENSG00000224709 chr12 48627879 48628836 + OR11M1P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224711 chr20 7347467 7367632 + LINC01706 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224712 chr16 14708944 14726338 + NPIPA3 protein_coding 642778 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, 0 1 3 0 4 4 0 3 2 ENSG00000224713 chr12 57612118 57619638 - AC025165.1 antisense 0 0 2 2 0 1 0 0 0 ENSG00000224714 chr10 64901136 64924518 - AC024600.1 lincRNA 101928887 0 0 0 1 0 0 0 0 0 ENSG00000224715 chr22 47345569 47373541 + Z82186.1 lincRNA 339685 0 0 0 0 0 0 0 0 0 ENSG00000224717 chr1 205455929 205469024 + AC098936.1 lincRNA 284577 0 1 0 0 0 0 0 0 0 ENSG00000224718 chr1 175877343 175880468 + LINC01657 lincRNA 101928751 0 1 0 0 0 0 0 2 0 ENSG00000224719 chr2 95502791 95505059 + AC009237.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224721 chr14 75574888 75579588 - AC007182.1 antisense 102724153 1 0 3 0 2 1 10 1 0 ENSG00000224722 chr8 127086263 127087510 - AC020688.1 processed_pseudogene 0 3 1 1 1 3 0 0 0 ENSG00000224723 chr7 57177409 57180052 - GUSBP10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224725 chr10 70389426 70390626 + CEP57L1P1 processed_pseudogene 0 1 0 0 1 2 0 3 0 ENSG00000224727 chr1 243267257 243268119 - FCF1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224728 chr3 15878047 15879571 + IMPDH1P8 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000224729 chr7 100589402 100604206 - PCOLCE-AS1 antisense 100129845 4 5 10 4 0 5 9 10 1 ENSG00000224730 chr19 54635722 54638892 - LILRB1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224731 chr2 80028012 80030551 - AC016716.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224732 chrX 149808214 149809155 + MAGEA7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224733 chr6 128500527 128501176 + AL034349.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224735 chrX 53759026 53759204 + BX323845.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224738 chr17 59106598 59118267 + AC099850.1 antisense 2 6 5 4 8 8 3 1 3 ENSG00000224739 chr2 43001355 43006060 - AC016735.1 lincRNA 1 0 0 5 0 0 9 4 1 ENSG00000224743 chr13 30881933 30933846 - TEX26-AS1 antisense 100507064 1 3 1 2 1 0 6 2 0 ENSG00000224745 chr10 87878692 87880427 + AC063965.1 sense_intronic 93 111 102 63 116 85 73 88 102 ENSG00000224746 chr7 135926455 135932881 + AC015987.1 antisense 6 3 12 8 7 12 4 11 3 ENSG00000224747 chr21 44469929 44472516 - MTCYBP21 processed_pseudogene 1 0 1 0 0 0 5 0 1 ENSG00000224750 chr10 90454170 90502968 + AL391704.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224751 chr1 43850300 43851611 - SHMT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224752 chr3 14089107 14089871 - VN1R21P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224755 chrX 78519593 78520186 - HMGN1P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224758 chr10 132961340 132962237 - LINC01167 lincRNA 103695432 0 0 0 0 0 0 0 0 0 ENSG00000224760 chr10 80024737 80025159 - C1DP3 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000224761 chr10 38164648 38212417 + AL117339.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224762 chr9 64473040 64473826 - CR769776.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224763 chr1 211660189 211661277 - FDPSP8 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000224764 chr9 94928551 94934946 - AL353768.1 antisense 1 0 0 0 2 0 0 0 0 ENSG00000224765 chrX 137556191 137564387 - AL035443.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224769 chr3 195614947 195620233 + MUC20P1 unprocessed_pseudogene 0 1 0 0 3 0 0 3 3 ENSG00000224771 chr3 10626021 10626807 - ATP2B2-IT2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000224773 chrX 114774828 114776775 - HSPA8P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224775 chrX 75582676 75585506 + BRAFP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224776 chr11 109982192 109983043 + RPSAP50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224777 chr11 86649 87586 - OR4F2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224778 chr13 19126399 19139611 + CENPIP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224781 chrX 52832704 52833899 - EIF4A2P4 processed_pseudogene 0 0 1 3 0 1 3 0 0 ENSG00000224783 chr1 238777049 238779200 - MIPEPP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224784 chr1 153396591 153396771 - S100A15A processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224785 chr7 23562459 23564261 - AC006026.1 processed_pseudogene 0 0 0 0 0 3 0 1 0 ENSG00000224786 chr4 122728532 122732482 - CETN4P transcribed_unitary_pseudogene 0 0 2 0 0 3 1 0 0 ENSG00000224788 chr10 10058722 10063502 + AL138775.1 lincRNA 101928298 0 0 0 0 0 0 0 0 0 ENSG00000224789 chr2 120174885 120216544 - AC012363.1 antisense 3 5 0 2 0 16 1 3 7 ENSG00000224790 chr21 36966492 36975164 + AP000704.1 lincRNA 0 0 4 2 0 0 2 1 0 ENSG00000224791 chr2 203764295 203765593 - KRT18P39 processed_pseudogene 0 1 0 0 0 0 0 0 1 ENSG00000224792 chr3 51817603 51819635 + IQCF4 transcribed_processed_pseudogene 100506840 0 0 0 0 0 0 0 0 0 ENSG00000224794 chr22 39292988 39295589 + AL022326.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224795 chr11 131662131 131663583 - NTM-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224796 chr6 33079451 33079860 + RPL32P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224797 chr9 130724786 130725050 - AL359092.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224799 chrX 56973510 56974796 + AL139397.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224800 chr1 150881236 150881683 - RPS27AP6 processed_pseudogene 1 0 2 0 0 0 4 3 0 ENSG00000224802 chr9 34109171 34109968 - TUBB4BP2 processed_pseudogene 0 1 5 0 2 5 4 3 0 ENSG00000224805 chr1 47179250 47180339 + LINC00853 antisense 100874253 0 0 0 0 0 0 0 0 0 ENSG00000224806 chr22 24686168 24686679 + ARL5AP4 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000224807 chr4 190021407 190022665 - DUX4L9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224808 chr3 9014123 9015979 + SRGAP3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224809 chr9 92171241 92173494 + BEND3P2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000224810 chr1 182062677 182069253 - AL355482.1 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000224812 chr10 44811024 44959689 - TMEM72-AS1 antisense 220980 1 1 0 0 0 0 0 1 0 ENSG00000224814 chr2 233693434 233708699 - AC114812.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224815 chr9 94338347 94338733 - AL691447.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224816 chrX 106466542 106467440 - NAP1L4P2 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000224817 chr10 101704652 101708401 - AC010789.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224818 chr1 201464383 201465146 - AC096677.2 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000224819 chr2 220791078 220797893 + AC093843.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224820 chr9 72107818 72108312 - BTF3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224821 chr13 110456396 110463287 - COL4A2-AS2 antisense 100129836 0 0 0 0 0 0 0 0 0 ENSG00000224822 chr3 24455136 24459434 - THRB-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000224825 chr9 74485551 74499127 - RORB-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224826 chr2 224169664 224171537 + AC019109.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224827 chrY 24276245 24277026 + LINC00265-2P processed_pseudogene 0 0 2 0 0 0 0 1 0 ENSG00000224829 chr11 77313606 77314032 + TOMM20P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224830 chr1 247938973 247939659 + OR2X1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224831 chr3 149982181 149983308 - TMEM183B processed_pseudogene 21 35 22 25 22 33 19 24 8 ENSG00000224832 chr21 24304546 24321377 - LINC01689 lincRNA 101927869 0 0 0 0 0 0 0 0 0 ENSG00000224834 chr1 227434064 227434346 + BTF3P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224836 chr9 1151807 1152140 - AL356498.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224837 chr1 168055901 168056422 - GCSHP5 processed_pseudogene 2 2 5 2 1 4 2 2 3 ENSG00000224839 chr2 208057248 208057745 - RPL12P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224842 chr9 126589594 126613700 - AL161908.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224843 chr6 26956992 27023924 + LINC00240 lincRNA 100133205 0 0 0 0 0 0 0 0 0 ENSG00000224844 chr2 237122910 237124097 - AC107079.1 lincRNA 0 0 0 0 4 8 7 1 0 ENSG00000224846 chr6 2989722 2999134 - AL133351.1 antisense 1 3 6 4 0 7 3 2 2 ENSG00000224848 chr9 96687056 96721121 + AL589843.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000224851 chr10 91033157 91062164 + LINC00502 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224852 chr2 143094789 143096555 - MTND5P24 processed_pseudogene 18 23 18 8 38 36 26 16 26 ENSG00000224853 chr13 73413473 73661891 - LINC00393 lincRNA 0 0 1 0 0 0 1 0 0 ENSG00000224854 chr9 21966929 21967751 + CDKN2A-DT antisense 0 0 0 0 0 0 0 0 0 ENSG00000224855 chr3 193618609 193627337 - OPA1-AS1 antisense 100873941 6 8 15 4 21 17 6 7 10 ENSG00000224856 chr22 43957027 43957348 + AL035398.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224857 chr1 121573946 121580524 - LINC01691 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000224858 chr3 37016523 37017014 - RPL29P11 processed_pseudogene 5 11 17 4 13 17 17 13 7 ENSG00000224860 chr21 13824406 13825635 - GXYLT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224861 chr14 66012830 66013789 - YBX1P1 processed_pseudogene 9 10 13 9 10 10 20 10 11 ENSG00000224863 chr1 46446673 46451281 - LINC01398 processed_transcript 101929651 0 0 1 1 0 0 0 0 0 ENSG00000224864 chr19 20125044 20125484 + AC011447.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224865 chr7 131897641 131948953 + AC009518.1 lincRNA 101928782 0 0 0 0 0 0 0 0 0 ENSG00000224866 chrY 23734193 23736249 + USP9YP25 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224869 chr2 116726453 116726771 - AC062016.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224870 chr1 1399522 1402046 + AL391244.1 processed_transcript 148413 78 67 100 37 55 50 46 59 40 ENSG00000224873 chrY 22520681 22521695 - CDY13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224875 chr2 42143238 42170301 - AC083949.1 antisense 49 47 84 45 21 45 57 34 53 ENSG00000224876 chr20 33214920 33217067 - AL121901.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224877 chr17 81239239 81241281 + NDUFAF8 protein_coding 284184 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0005515, protein binding, GO:0032981, GO:0032981, mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex I assembly, 19 9 23 40 10 20 20 10 11 ENSG00000224879 chr2 79158374 79185523 + AC011754.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000224880 chr7 57173357 57174362 + MTCYBP29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224881 chr2 87379880 87380767 - AC068279.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224883 chr22 41981304 41982217 - Z99716.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224884 chr3 8573726 8593124 - AC034187.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224885 chr2 3298341 3301465 - EIPR1-IT1 sense_intronic 0 0 0 0 0 0 0 1 0 ENSG00000224886 chr10 79684494 79684983 - AL132656.1 transcribed_processed_pseudogene 5 5 3 23 9 10 16 5 1 ENSG00000224887 chr9 87084161 87085151 - AL513318.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224888 chr16 88731180 88741425 + AC138028.2 antisense 7 8 40 23 15 14 47 3 7 ENSG00000224891 chr2 37148530 37149304 + AC007899.1 processed_pseudogene 37 20 43 7 12 24 18 14 14 ENSG00000224892 chr13 51454164 51461315 + RPS4XP16 transcribed_processed_pseudogene 11 7 10 9 13 2 7 10 3 ENSG00000224893 chr6 152794496 152831913 - AL160162.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224895 chr3 47960327 47961081 - VPS26BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224896 chr1 170115636 170116576 + SIGLEC30P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224897 chr7 124929873 125179315 + POT1-AS1 antisense 401398 4 0 4 3 10 8 9 3 4 ENSG00000224899 chr7 125151326 125153611 - AC019155.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224901 chr1 197757319 197761965 + AL365258.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224902 chrX 49579983 49587301 + GAGE12H protein_coding 729442 0 0 0 0 0 0 0 0 0 ENSG00000224903 chr7 156654185 156657693 - AC005534.1 antisense 2 2 2 12 9 2 6 1 0 ENSG00000224904 chr1 11877770 11880406 + AL021155.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224905 chr21 14027421 14144468 + AP001347.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224906 chr12 6438498 6438852 + SRP14P1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000224907 chr10 109807651 109808129 + RPL21P91 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224908 chrX 134166682 134166932 + TIMM8BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224910 chr19 35597907 35601501 + LINC01766 lincRNA 102723617 0 0 0 0 0 0 0 0 0 ENSG00000224914 chr10 87342736 87357882 + LINC00863 bidirectional_promoter_lncRNA 439994 33 26 6 22 42 2 15 17 6 ENSG00000224916 chr19 44942238 44949565 + APOC4-APOC2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000224917 chrY 22670616 22672859 - AC016694.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224918 chr3 53348 54346 - AC066595.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224919 chr10 47496212 47502195 + AL591684.1 antisense 0 0 3 0 0 8 2 0 7 ENSG00000224920 chr10 37523011 37544701 + TACC1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224922 chr21 13769932 13771740 + AL050303.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224924 chr21 20742590 20803216 - LINC00320 lincRNA 387486 0 0 0 0 0 0 0 0 0 ENSG00000224927 chr1 109810642 109810998 - NDUFA5P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224928 chr2 218953401 218954050 - KRT8P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224931 chrX 153122145 153128323 - AC152010.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224932 chr4 117314597 117360639 - LINC02262 lincRNA 105377389 0 0 0 0 0 0 0 0 0 ENSG00000224933 chr13 76013023 76014501 - LINC01034 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224934 chr10 99430919 99461743 + AL391684.1 bidirectional_promoter_lncRNA 6 5 9 2 1 1 3 0 5 ENSG00000224935 chr9 12098660 12159147 - AL589678.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224936 chr6 30468882 30470251 + SUCLA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224939 chr1 234629311 234634780 + LINC00184 lincRNA 100302691 0 0 0 0 1 0 0 0 0 ENSG00000224940 chr7 128350325 128361685 - PRRT4 protein_coding 401399 GO:0016021, integral component of membrane, 4 9 8 0 9 3 4 8 1 ENSG00000224942 chrX 140397062 140398311 + AL137014.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224943 chr1 159466321 159483376 + AL663023.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224944 chr6 91629915 91690428 - CASC6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224945 chr9 89088604 89109934 - AL353150.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000224946 chr7 33276834 33277091 - AC007312.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224947 chr7 56559221 56559958 + VN1R25P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224948 chr10 76836568 76836861 + ATP5MC1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224949 chrX 54147372 54147659 + AL589872.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224950 chr1 116493016 116499212 - AL390066.1 lincRNA 48 26 72 50 49 53 79 50 79 ENSG00000224953 chrY 6718962 6719180 - SRIP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224955 chr9 28598668 28599292 - KCTD10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224957 chr3 536231 846015 + LINC01266 lincRNA 101927215 0 0 0 0 0 0 0 0 0 ENSG00000224958 chr9 68355189 68357852 - PGM5-AS1 antisense 572558 1 0 0 0 0 0 0 0 0 ENSG00000224959 chr2 111491943 111494811 - AC017002.1 lincRNA 4 7 14 5 0 9 8 1 9 ENSG00000224960 chrX 27460211 27463341 - PPP4R3C protein_coding 139420 0 0 0 0 0 0 0 0 0 ENSG00000224961 chr20 10753090 10753966 + LINC01752 lincRNA 0 4 0 0 0 0 0 0 0 ENSG00000224962 chr3 166691187 166691712 + PSAT1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224963 chrX 153479266 153487088 + U82695.1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224964 chrY 17797983 17800696 - TRAPPC2P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224965 chr1 110208834 110209987 - LINC02586 antisense 0 1 0 0 0 0 0 0 0 ENSG00000224966 chr1 15989871 15994751 + TBC1D3P6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224967 chr2 117934025 117934789 - AC009303.1 processed_pseudogene 2 7 7 2 6 0 2 2 6 ENSG00000224968 chr1 177351586 177366272 + LINC01645 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224969 chr1 1011997 1013193 - AL645608.1 antisense 1 0 0 0 4 15 2 2 2 ENSG00000224970 chr7 142875836 142892743 + AC245427.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224971 chr7 55732144 55732431 + SUMO2P3 processed_pseudogene 0 0 3 1 3 1 2 0 1 ENSG00000224972 chr9 6902670 6978859 + AL513412.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000224973 chr22 33725014 33750843 + LARGE-AS1 processed_transcript 100506195 0 0 0 0 0 0 0 0 0 ENSG00000224975 chrX 47204921 47205865 + INE1 sense_intronic X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene is intronless and was identified because its transcription escapes X inactivation in females. This gene does not make a protein.[provided by RefSeq, May 2010]. 8552 109 118 135 102 91 118 102 67 99 ENSG00000224976 chr13 19349137 19407962 + PARP4P2 unprocessed_pseudogene 0 2 0 2 4 0 2 0 0 ENSG00000224977 chr1 174022509 174022985 + AL121983.1 lincRNA 105371620 0 1 1 14 16 23 26 1 11 ENSG00000224978 chrX 155212921 155213638 - BX682237.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224980 chr1 56585612 56586242 - RPL23AP85 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224981 chr7 126868767 126870532 - AC000367.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224982 chr12 119593459 119643066 + TMEM233 protein_coding 387890 GO:0016021, GO:0016020, integral component of membrane, membrane, 0 0 0 0 0 0 0 0 0 ENSG00000224984 chr6 54840118 54840855 - AL512363.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000224985 chr1 161153760 161159349 - AL590714.1 antisense 25 23 25 25 18 35 35 21 19 ENSG00000224986 chr1 48325080 48326123 - PPP1R8P1 processed_pseudogene 0 4 1 2 1 10 5 3 1 ENSG00000224987 chr6 107985089 107985690 - AL024507.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224988 chr9 129883693 129884170 - AL158207.1 processed_pseudogene 1 0 1 0 3 0 3 1 0 ENSG00000224989 chrY 17500958 17515018 + FAM41AY1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000224992 chr9 132768965 132770212 - AL445645.1 sense_intronic 1 0 1 0 1 0 1 0 0 ENSG00000224993 chr5 43666766 43667232 - RPL29P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000224995 chr6 81813286 81814157 - LINC01526 lincRNA 101928770 0 0 0 0 1 0 0 0 0 ENSG00000224999 chr6 169296471 169297959 - VTA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225000 chr7 18429062 18430738 - AC010082.1 antisense 0 0 0 0 0 0 0 0 1 ENSG00000225002 chr9 106061354 106064825 - AL732323.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225003 chr11 4972943 4973884 - OR51A5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225005 chr7 73314107 73315213 + AC211485.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225006 chr1 188508538 188536465 + AL929288.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225007 chr22 19667023 19667555 + AC000067.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225008 chrX 155290360 155291353 - AC234781.2 processed_pseudogene 0 0 0 1 2 2 0 0 0 ENSG00000225011 chr1 29488193 29496893 - AL671862.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225012 chrX 89423738 89446983 + AL121872.1 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000225014 chr17 20111824 20112990 + KCTD9P1 transcribed_processed_pseudogene 10 8 4 0 18 9 15 4 5 ENSG00000225016 chr13 18809830 18810048 + LINC00328-2P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225017 chr8 99346052 99348256 - AP004289.1 processed_pseudogene 0 2 0 1 1 0 3 3 4 ENSG00000225018 chr7 55876738 55877024 - AC092647.1 processed_pseudogene 37 44 56 9 20 11 16 20 14 ENSG00000225022 chr20 5292388 5292831 - UBE2D3P1 processed_pseudogene 24 22 20 8 13 12 19 26 16 ENSG00000225024 chr2 26678219 26678510 - AC015977.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225025 chrX 79323446 79325217 + KIF4CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225026 chr3 12328003 12328274 + AC091492.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225027 chr9 21106543 21106836 + IFNWP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225028 chr1 47818066 47820237 + AC096541.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225030 chr1 53291791 53292138 - AL355483.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000225031 chrX 111619677 111621489 - EIF4BP7 processed_pseudogene 17 20 30 27 18 15 23 16 13 ENSG00000225032 chr9 127816066 127822520 + AL162586.1 antisense 102723566 5 12 9 26 7 8 23 4 6 ENSG00000225036 chr1 105433994 105434821 + CDK4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225037 chrX 20139968 20140444 + EIF1AX-AS1 antisense 100874078 1 0 0 1 6 12 9 0 0 ENSG00000225039 chr13 30419519 30422237 - LINC01058 lincRNA 1 2 1 0 2 7 0 1 2 ENSG00000225043 chr21 46420553 46421034 - RPL18AP2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000225044 chr3 1962381 1987470 - AC018814.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225045 chr2 82815809 82817528 + MTND5P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225046 chrX 130330857 130331069 + AL035423.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225050 chr9 118687752 118705960 - AL355592.1 lincRNA 102724929 0 0 0 0 0 0 0 0 0 ENSG00000225051 chr5 179679032 179694768 + HMGB3P22 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000225053 chr10 8161260 8162192 + PRPF38AP1 processed_pseudogene 1 0 1 0 0 0 0 0 0 ENSG00000225055 chrX 48357125 48359495 + AL606490.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225056 chr20 23655225 23656390 - AL121894.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225057 chr2 238231684 238255633 + AC012485.1 processed_transcript 9 8 20 11 6 18 18 9 13 ENSG00000225058 chr3 187997422 188003990 - AC092941.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225062 chr2 218366665 218367835 - CATIP-AS1 processed_transcript 73 63 56 104 97 65 90 63 83 ENSG00000225063 chr1 205233821 205236867 - AC093422.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225064 chr2 207260445 207270690 + LINC01802 lincRNA 0 1 1 0 0 0 0 1 0 ENSG00000225066 chrX 17933349 17934823 + Z93929.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225067 chr19 15611657 15612122 + RPL23AP2 processed_pseudogene 0 0 3 3 0 3 0 2 1 ENSG00000225069 chr20 25099105 25099928 + AL080312.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225071 chrX 24429573 24429920 - AC004552.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225072 chr9 90232185 90233141 + OR7E116P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225075 chr1 112693688 112696621 - AL603832.1 antisense 11 12 29 18 13 33 20 14 12 ENSG00000225076 chrX 10024842 10038654 - WWC3-AS1 antisense 5 3 6 0 0 1 3 0 0 ENSG00000225077 chr1 6234692 6239444 + LINC00337 lincRNA 2 0 0 3 0 0 0 0 0 ENSG00000225078 chr9 123061845 123063312 - AL365338.1 processed_pseudogene 0 0 0 0 2 2 0 0 0 ENSG00000225079 chr1 116775104 116775623 - FTH1P22 processed_pseudogene 0 1 4 5 6 13 0 2 8 ENSG00000225080 chr1 148129497 148129898 + PFN1P4 processed_pseudogene 1 0 3 1 1 3 2 0 0 ENSG00000225082 chr1 155586644 155602197 + DAP3P1 unprocessed_pseudogene 0 0 2 0 0 0 2 1 5 ENSG00000225083 chr13 113351673 113361868 + GRTP1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225084 chr17 2232680 2233610 + AL450226.1 antisense 101927839 0 0 0 0 0 2 0 0 0 ENSG00000225085 chr9 82405188 82406239 + AL162726.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225087 chr1 72748921 72899140 - AL583808.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225091 chr20 38427309 38427442 - SNORA71A snoRNA 0 0 1 3 11 4 0 1 0 ENSG00000225092 chr6 7183083 7185287 + AL355336.1 sense_intronic 2 1 4 3 2 0 1 0 0 ENSG00000225093 chr6 108004357 108005568 - RPL3P7 processed_pseudogene 1 1 0 1 2 0 2 1 6 ENSG00000225094 chr4 109553243 109554094 - SETP20 processed_pseudogene 3 1 0 4 0 5 4 0 6 ENSG00000225096 chr6 57961438 58438364 + AL445250.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225098 chr22 24259929 24263764 - BCRP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225099 chr1 42903232 42903912 + ATP6V1E1P1 processed_pseudogene 6 5 5 1 2 4 0 3 3 ENSG00000225100 chr10 79982910 79983240 - DPY19L2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225101 chr11 4393783 4476361 + OR52K3P transcribed_unprocessed_pseudogene 268 424 443 227 654 564 250 428 369 ENSG00000225102 chr6 11990343 11992012 - AL157373.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225105 chr13 25193107 25210295 - LINC01076 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225106 chr20 61738219 61755056 - AL162457.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225107 chr2 145569294 145588024 - AC092484.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225108 chr2 109986939 109988394 - ZBTB45P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225110 chrX 153317681 153321822 - PNMA6F protein_coding 105373377 0 0 0 0 0 0 0 0 0 ENSG00000225111 chr2 207868582 207869915 - AC083900.1 sense_intronic 2 4 4 11 16 6 15 9 5 ENSG00000225112 chr10 13710415 13712054 + AL157392.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225113 chr1 109596225 109597781 + AL355310.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000225116 chr20 3465177 3465444 - AL353193.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225117 chrY 12354096 12387328 + ARSDP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225118 chr10 92878092 92878289 - AL392103.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225121 chr6 63480134 63481876 + EEF1B2P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225122 chr1 163422405 163423164 - AL603841.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225123 chr9 33574361 33574588 - AL139008.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225124 chr2 203074685 203075142 - RPL23AP36 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000225125 chrX 136807223 136807877 - RANP4 processed_pseudogene 0 0 1 0 0 7 0 2 1 ENSG00000225126 chr1 7441096 7441554 - AL365194.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225127 chr20 21087604 21106358 - LINC00237 lincRNA 105372556 0 0 0 0 0 7 0 0 0 ENSG00000225128 chr7 85421122 85489293 + LINC00972 lincRNA 105375380 0 0 0 0 0 0 0 0 0 ENSG00000225129 chr20 59352195 59357774 - AL035250.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225131 chr13 48771128 48771827 + PSME2P2 processed_pseudogene 2 0 0 0 4 3 0 1 0 ENSG00000225133 chr13 41199832 41200807 - MORF4L1P4 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000225136 chr2 88922328 88922753 - PGBD4P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225137 chr10 50264978 50266815 + DYNC1I2P1 processed_pseudogene 8 6 15 11 9 16 17 9 18 ENSG00000225138 chr5 473236 480884 + SLC9A3-AS1 processed_transcript 1 10 7 14 10 17 9 2 4 ENSG00000225140 chr10 628638 631255 + AL358216.1 antisense 101930421 0 0 0 0 0 0 0 0 0 ENSG00000225142 chr1 31108188 31108623 - AC114495.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225144 chr7 132264152 132271269 + AC018643.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225146 chr7 1029025 1043891 + AC073957.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225147 chr5 142566700 142567076 + RPS12P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225148 chr6 139856104 139877391 - AL050338.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225151 chr15 84199311 84230136 - GOLGA2P7 transcribed_unprocessed_pseudogene 1 0 0 1 0 2 0 0 0 ENSG00000225152 chr10 123425713 123427640 - AL160290.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225154 chr1 47074778 47075979 - AL450996.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225155 chr10 118643760 118644198 + TOMM22P5 processed_pseudogene 0 0 0 2 0 0 1 0 0 ENSG00000225156 chr2 44954664 44968762 + AC012354.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225158 chr1 10895761 10895998 + HSPE1P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225159 chr1 27206930 27207796 + NPM1P39 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000225163 chr14 96931367 96945394 + LINC00618 sense_overlapping 1 0 0 4 3 5 0 0 3 ENSG00000225165 chr5 95440044 95440687 + AC090071.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225166 chr2 215453707 215463871 + AC012462.1 lincRNA 102724849 0 0 0 0 0 0 0 0 0 ENSG00000225167 chr1 68514375 68514669 - TXNP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225169 chr1 100213293 100213670 + BRI3P1 processed_pseudogene 0 0 2 0 0 2 1 0 0 ENSG00000225170 chr20 22272052 22273454 - AL049737.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225171 chr1 166868748 166869209 + DUTP6 processed_pseudogene 0 1 2 0 0 0 0 0 0 ENSG00000225172 chr1 198983321 198985400 + AC096631.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225173 chr6 28837869 28839006 - AL662890.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225174 chr6 108123515 108159392 + OSTM1-AS1 lincRNA 100287366 0 0 0 0 0 0 0 0 0 ENSG00000225175 chr3 186687329 186692506 + AC109780.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225176 chr4 148703526 148703832 - ATP5MGP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225177 chr6 138692548 138697288 + FLJ46906 antisense 0 0 2 0 0 0 0 0 0 ENSG00000225178 chr19 23827162 23828049 + RPSAP58 processed_pseudogene 8 8 13 43 21 50 36 14 51 ENSG00000225179 chr13 34435450 34640685 - LINC00457 lincRNA 100874179 0 0 0 0 0 0 0 0 0 ENSG00000225180 chr17 81165507 81183164 + PVALEF protein_coding 388428 GO:0005861, troponin complex, GO:0051015, GO:0048306, GO:0005509, actin filament binding, calcium-dependent protein binding, calcium ion binding, GO:0006937, GO:0003009, regulation of muscle contraction, skeletal muscle contraction, 1 2 5 0 2 0 0 0 0 ENSG00000225181 chr20 15552157 15552885 - AL121584.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225182 chr2 166889502 166889884 - AC092601.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225183 chr1 54089856 54090093 + AL353898.1 processed_pseudogene 0 0 0 2 0 0 1 0 0 ENSG00000225185 chr12 98590723 98591214 - PPIAP8 processed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000225187 chr2 47067822 47071204 + AC073283.1 antisense 3 2 0 0 0 3 0 3 2 ENSG00000225189 chrY 23462465 23472280 + REREP1Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225190 chr17 45435900 45490749 - PLEKHM1 protein_coding The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]. 9842 GO:0043231, GO:0010008, GO:0005765, GO:0005730, intracellular membrane-bounded organelle, endosome membrane, lysosomal membrane, nucleolus, GO:0046872, metal ion binding, GO:1900029, GO:0045780, GO:0035556, GO:0032418, GO:0015031, GO:0006914, positive regulation of ruffle assembly, positive regulation of bone resorption, intracellular signal transduction, lysosome localization, protein transport, autophagy, 11 6 10 2 3 1 3 7 0 ENSG00000225191 chr1 103926567 103927806 + AL136455.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225192 chr10 37794276 37796109 - ZNF33BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225193 chr15 90206572 90206967 + RPS12P26 transcribed_processed_pseudogene 7 1 2 4 11 5 4 5 7 ENSG00000225194 chr9 96019724 96027993 - LINC00092 lincRNA 100188953 0 0 0 5 3 1 6 3 0 ENSG00000225195 chr12 64628344 64629976 + AC078962.1 sense_intronic 8 4 13 4 7 14 4 0 0 ENSG00000225196 chr1 12220794 12221109 - RPL10P17 processed_pseudogene 1 3 6 4 13 4 10 7 1 ENSG00000225198 chrX 48156367 48166350 + SSXP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225200 chr14 105978520 105979146 - AC246787.1 processed_pseudogene 0 0 0 1 0 5 9 0 2 ENSG00000225203 chr13 75375511 75377294 - AL139230.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225205 chr2 172480840 172556596 - AC078883.1 antisense 46 43 76 62 57 44 47 40 74 ENSG00000225206 chr1 97933474 98049863 - MIR137HG lincRNA 400765 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000225208 chr10 101311018 101311505 + AL133387.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000225209 chr7 68020253 68032690 + AC092637.1 lincRNA 102723427 0 0 0 0 0 0 0 0 0 ENSG00000225210 chr14 19062316 19131167 + DUXAP9 transcribed_processed_pseudogene Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]. 503638 0 0 0 0 0 0 0 1 0 ENSG00000225212 chr18 8545635 8546817 + AKR1B1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225213 chr10 16721352 16748377 - AC073367.1 sense_intronic 6 9 12 4 9 1 6 7 10 ENSG00000225214 chr2 152098328 152109202 + AC079790.1 antisense 10 14 28 3 8 6 6 10 5 ENSG00000225215 chr11 107403404 107404589 - SMARCE1P1 processed_pseudogene 0 1 0 0 1 0 0 3 0 ENSG00000225216 chr2 205756469 205764006 - AC007362.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225217 chr1 161606291 161608217 + HSPA7 unprocessed_pseudogene 251 330 350 237 593 408 232 340 283 ENSG00000225218 chr21 42831040 42836477 - AP001628.1 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000225221 chr13 38902387 38902650 + PLA2G12AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225222 chr1 246178778 246179204 + CHCHD4P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225224 chr7 157192368 157192832 + RPS27AP12 processed_pseudogene 5 7 9 8 5 0 2 6 0 ENSG00000225225 chr22 18102457 18103649 - ARL2BPP10 processed_pseudogene 0 1 0 0 0 8 6 0 0 ENSG00000225226 chr2 58275877 58296548 + LINC01795 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225230 chr5 56900041 56910714 - AC008937.1 antisense 0 0 0 2 0 1 0 0 0 ENSG00000225231 chr12 9936579 9943495 - LINC02470 lincRNA 100506159 17 61 65 7 96 69 29 91 48 ENSG00000225233 chr1 213492301 213546447 + AL592402.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225234 chr2 3481242 3482409 - TRAPPC12-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225235 chrX 135520083 135520674 - INTS6L-AS1 antisense 100874118 2 4 1 1 0 3 4 0 1 ENSG00000225236 chr11 117117794 117119181 - AP000936.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225238 chrX 41472264 41472653 - Z93015.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225239 chr13 110762674 110763133 - RPL21P107 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225240 chr3 196452996 196453055 - AC117490.1 unprocessed_pseudogene 0 2 0 1 1 0 0 0 11 ENSG00000225242 chr1 68282388 68282622 + COX6B1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225243 chr1 171199244 171227788 - AL021026.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225244 chr7 56940341 56944353 - AC069152.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225246 chr20 34122470 34123290 + RPS2P1 processed_pseudogene 1 0 0 0 0 0 0 2 0 ENSG00000225249 chr13 60685199 60694528 + LINC00378 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225251 chr10 13057902 13058676 - RPL5P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225253 chr18 41819053 41819421 + AC011225.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225254 chr9 38452782 38454070 - ARMC8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225255 chr22 15746630 15778297 + LINC01297 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225256 chrY 25699451 25702562 + TRAPPC2P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225258 chr2 180571712 180692454 - AC009478.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225259 chr8 133408006 133409107 + ST13P6 processed_pseudogene 10 7 7 3 7 5 2 3 4 ENSG00000225263 chr13 66977432 66985776 + PCDH9-AS3 antisense 100874086 0 0 0 0 0 0 0 0 0 ENSG00000225264 chr7 29598795 29685255 - ZNRF2P2 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000225265 chr1 222589825 222593032 + TAF1A-AS1 antisense 1 2 1 4 0 0 1 0 10 ENSG00000225267 chr21 30263380 30263881 - RPL8P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225269 chr10 4655427 4662419 + LINC00705 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225270 chr7 55798034 55798876 + CICP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225271 chrX 8980425 8982505 - AC074281.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000225272 chr1 165676310 165676781 + AL451074.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225275 chr3 11900011 11901245 + NUP210P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225276 chr10 37600796 37601368 - MTND1P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225279 chr1 160062488 160079821 + AL121987.1 antisense 0 0 0 0 2 0 0 0 0 ENSG00000225280 chr20 21397818 21400391 + AL158013.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225282 chr22 23926900 23929574 + AP000350.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225284 chr2 38861720 38863133 + AC018693.1 antisense 1 3 0 2 2 3 0 0 0 ENSG00000225285 chr1 1430539 1434573 - LINC01770 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225286 chr7 28615097 28615888 - AC005105.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000225287 chrY 25675060 25697346 - OFD1P13Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225289 chr13 88236547 88236969 - RPL29P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225292 chr10 112888735 112906111 + AL158212.1 sense_intronic 0 1 0 0 0 0 0 0 0 ENSG00000225293 chr22 16387694 16390887 + ABCD1P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225294 chr1 26985897 26986340 - OSTCP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225295 chr7 57169406 57170771 + MTND4P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225297 chr1 93199755 93199939 - AC126124.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225298 chr21 27722379 27751233 + LINC00113 lincRNA 54088 0 0 0 0 0 0 0 0 0 ENSG00000225299 chr10 67052609 67055028 + AL139240.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225300 chr1 246605873 246608102 + AL591623.1 sense_intronic 0 0 0 3 3 6 8 7 10 ENSG00000225303 chr10 50472814 50474246 + AL117341.1 antisense 0 0 1 2 0 0 0 0 0 ENSG00000225304 chr2 204379095 204379792 + AC106901.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225308 chr7 21220213 21221428 - ASS1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225310 chr3 2985231 2985575 - DNAJC19P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225311 chr6 144311699 144333301 - AL024474.2 antisense 1 0 0 1 0 0 0 0 3 ENSG00000225313 chr1 33307348 33349245 + AL513327.1 antisense 513 449 640 274 357 368 351 230 292 ENSG00000225314 chr7 37821210 37821610 + AC018634.1 processed_pseudogene 0 1 2 1 2 0 0 0 5 ENSG00000225315 chr1 24040835 24086799 + AL591178.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225316 chr13 19561328 19588350 + LINC00350 lincRNA 100874136 0 0 0 0 0 0 0 0 0 ENSG00000225321 chr20 22263065 22284029 - LINC01427 lincRNA 101929663 0 0 0 0 0 0 0 0 0 ENSG00000225323 chr16 168679 169334 + Z84721.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225325 chr1 166387727 166452632 - AL583804.1 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000225326 chrY 25748596 25750206 - USP9YP19 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225327 chr8 7976393 7977985 - USP17L3 protein_coding 645836 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006915, GO:0006511, regulation of apoptotic process, protein deubiquitination, apoptotic process, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000225328 chr2 108167748 108217841 - LINC01594 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225329 chr7 104894628 104926645 - LHFPL3-AS2 processed_transcript 723809 1 2 0 2 0 2 0 0 0 ENSG00000225330 chr21 39630271 39726085 + AF064860.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000225331 chr21 44158740 44160076 - LINC01678 lincRNA 1 0 0 1 0 0 0 0 3 ENSG00000225333 chr1 39718028 39718595 + AL035404.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225334 chr1 224766900 224773341 + AL391811.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225335 chr22 18076527 18078884 - AC016027.1 antisense 9 4 9 4 6 15 16 0 19 ENSG00000225336 chr20 34833575 34834462 - HMGB3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225337 chr9 68307393 68308445 + AL353608.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225338 chr1 212309051 212309518 - RPL23AP18 processed_pseudogene 2 1 0 0 2 0 0 2 3 ENSG00000225339 chr6 34248568 34286768 + AL354740.1 processed_transcript 425 655 492 273 617 544 408 545 478 ENSG00000225341 chr2 130530275 130537182 + AC013269.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225342 chr12 40186009 40224915 - AC079630.1 antisense 799 596 1100 58 92 107 99 132 110 ENSG00000225343 chr6 132518830 132519295 - RPL21P66 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225344 chr20 25161167 25162061 - AL035252.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225345 chr9 38566260 38568211 - SNX18P3 transcribed_unprocessed_pseudogene 3 3 6 7 0 6 3 0 2 ENSG00000225347 chr9 32333457 32334354 - SLC25A5P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225349 chr12 31534715 31535247 - AC022080.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225350 chr13 38821798 38827570 - FREM2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225352 chr13 57391171 57391518 - RPL31P53 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225354 chr10 94882554 94883343 + RPL7AP52 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225355 chr10 36995023 36995585 + ARL6IP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225356 chr4 181522666 181523001 + AC093840.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225357 chr20 35752814 35753719 + RPF2P1 processed_pseudogene 0 4 0 0 3 0 3 1 0 ENSG00000225358 chr7 112735166 112738693 - MIPEPP1 processed_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000225359 chr1 181190471 181191149 - AL358393.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225360 chr9 63729702 63730173 + AL772155.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225361 chr9 135462727 135480777 - PPP1R26-AS1 antisense 100506599 0 1 0 0 0 0 0 0 0 ENSG00000225362 chr15 71110244 71115500 - CT62 protein_coding 196993 0 0 0 0 0 0 0 0 0 ENSG00000225364 chr5 132948493 132948718 + ATP6V0E1P1 processed_pseudogene 3 1 3 7 19 31 18 9 6 ENSG00000225365 chr7 158537495 158539879 + AC078942.1 antisense 0 0 0 0 0 1 2 0 0 ENSG00000225366 chrX 110520312 110523021 + TDGF1P3 transcribed_processed_pseudogene The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq, Jul 2008]. 6998 GO:0009986, GO:0005886, GO:0005576, cell surface, plasma membrane, extracellular region, GO:0070697, GO:0038100, GO:0008083, GO:0005102, activin receptor binding, nodal binding, growth factor activity, signaling receptor binding, GO:0048856, GO:0038092, GO:0009952, GO:0007507, GO:0007368, GO:0007165, GO:0001568, anatomical structure development, nodal signaling pathway, anterior/posterior pattern specification, heart development, determination of left/right symmetry, signal transduction, blood vessel development, 0 0 0 0 0 0 0 0 0 ENSG00000225369 chr2 159462417 159463256 - AC009506.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225370 chr19 54671231 54672591 + AC243962.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225371 chr7 56362458 56365270 + CICP8 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000225376 chr9 101468439 101481502 + TMEM246-AS1 antisense 101928470 0 0 0 0 0 0 0 0 0 ENSG00000225377 chr20 320313 348224 - NRSN2-AS1 antisense 100507459 0 0 1 0 0 4 0 0 0 ENSG00000225378 chr2 26671254 26674464 - AC015977.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225380 chr9 40641841 40642117 - IGKV1OR9-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225381 chrX 109853312 109853919 + RPS5P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225383 chr10 10784437 10794980 - SFTA1P lincRNA 207107 0 0 0 0 0 0 0 0 0 ENSG00000225384 chrX 34717440 34717992 - AL606662.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225385 chr9 88066915 88068037 + AL353572.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225386 chr3 26619330 26622690 - AC099754.1 lincRNA 105377003 0 0 0 0 0 0 0 0 0 ENSG00000225387 chr1 18385829 18388514 + AL591896.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225391 chr6 136982165 136993234 - NHEG1 lincRNA 100294720 0 0 0 0 0 0 0 0 0 ENSG00000225392 chr2 70102551 70102862 + AC016700.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225393 chrX 155468286 155487046 + BX571846.1 antisense 3 0 1 0 0 0 0 0 0 ENSG00000225394 chr2 194454581 194455142 - AC106883.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225396 chrX 72807425 72808210 - FAM236D protein_coding 105373251 0 0 0 0 0 0 0 0 0 ENSG00000225397 chrX 52722338 52722524 + AC244505.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225398 chr2 113541937 113563298 + PGM5P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225399 chr3 49260085 49261316 + AC121247.1 lincRNA 8 15 5 12 21 18 10 12 13 ENSG00000225400 chrX 136847384 136848034 + RAB28P5 processed_pseudogene 2 1 0 4 2 0 0 1 1 ENSG00000225401 chr1 244394976 244395660 - TGIF2P1 processed_pseudogene 1 0 0 0 0 4 1 2 0 ENSG00000225402 chr2 37816915 37817961 + AC010878.1 processed_pseudogene 44 25 34 9 15 4 31 8 5 ENSG00000225404 chr13 24704338 24704788 - RPL26P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225405 chr4 62105660 62106049 - RPS15AP17 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000225406 chr2 185547135 185547818 - AC080125.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225407 chr5 76691439 76716215 - AC025188.1 antisense 9 10 10 27 26 25 36 6 19 ENSG00000225408 chr9 5719021 5720244 - AL136980.1 antisense 15 16 11 9 11 12 2 5 12 ENSG00000225411 chr9 63802144 63814159 - CR786580.1 lincRNA 11 5 14 8 20 9 16 12 13 ENSG00000225413 chr22 23512494 23513602 - LINC02557 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225415 chr6 138822747 138823799 + CCRL1P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000225416 chr7 152602213 152602892 - AC104843.1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000225417 chr20 20214299 20215262 - AL049648.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225418 chr10 5122087 5135226 - AKR1C5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225419 chr20 18485265 18486052 + RPL21P3 processed_pseudogene 0 0 3 0 0 0 0 0 0 ENSG00000225420 chr2 88538720 88575610 + AC104134.1 antisense 101928371 49 65 80 63 65 95 73 44 40 ENSG00000225421 chr2 198493242 198772356 - AC019330.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225422 chr12 66234079 66235234 - RBMS1P1 processed_pseudogene 54 70 122 23 34 36 36 30 76 ENSG00000225423 chr10 84390908 84392045 + TNPO1P1 processed_pseudogene 2 0 0 5 2 3 0 0 2 ENSG00000225424 chr10 129278251 129291722 + AL391869.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225427 chr13 78787319 78792307 - LINC00331 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225428 chr2 87968609 87968971 + NDUFB4P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225431 chr21 42599280 42615058 - LINC01671 lincRNA 101928233 0 0 1 0 0 0 0 0 0 ENSG00000225433 chrY 11445418 11445564 - MTND1P12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225434 chr9 72305430 72343210 + LINC01504 lincRNA 100507540 7 7 13 2 14 4 4 9 21 ENSG00000225437 chr6 163042557 163054161 - PACRG-AS2 antisense 101929239 0 0 0 0 0 0 0 0 0 ENSG00000225438 chr17 41406512 41411775 - KRT41P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225439 chr2 74148009 74150061 + BOLA3-AS1 antisense 100507171 1 1 8 8 4 0 5 1 1 ENSG00000225442 chr17 17076038 17077752 - MPRIP-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225443 chr7 44511025 44511332 - AC004938.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225444 chr2 52373118 52390012 + LINC01867 lincRNA 105374596 0 0 0 0 0 0 0 0 0 ENSG00000225446 chr1 90851759 90855253 + LINC01763 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225447 chr1 45645816 45646197 - RPS15AP10 processed_pseudogene 4 9 11 5 6 7 14 3 5 ENSG00000225448 chr2 131181153 131181369 - AC009477.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225449 chr2 129966592 129980466 - RAB6C-AS1 transcribed_unprocessed_pseudogene 100131320 4 4 3 0 1 1 0 2 4 ENSG00000225450 chr22 38739003 38749041 + AL021707.1 antisense 172 168 237 143 179 166 210 159 264 ENSG00000225451 chr7 63876341 63877350 + AC092634.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225455 chr4 49016682 49017154 - TPI1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225457 chr7 113100663 113146330 + AC073346.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000225458 chr20 41991140 42063969 + AL049812.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225460 chr9 89472237 89472692 + AL590233.1 processed_pseudogene 19 15 18 18 12 29 25 17 29 ENSG00000225462 chr1 187563061 187564131 + FDPSP1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000225463 chr6 33215705 33216328 + ZNF70P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225465 chr22 29436534 29478175 - RFPL1S antisense 0 4 2 0 1 0 7 3 0 ENSG00000225466 chrY 23581595 23614640 + OFD1P10Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225469 chrX 142172866 142173989 - AL023773.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225470 chrX 73944184 74070408 + JPX lincRNA JPX is a nonprotein-coding RNA transcribed from a gene within the X-inactivation center (XIC; MIM 314670) that appears to participate in X chromosome inactivation (Tian et al., 2010 [PubMed 21029862]).[supplied by OMIM, Feb 2011]. 554203 GO:0010628, positive regulation of gene expression, 312 272 277 337 393 375 349 263 423 ENSG00000225471 chrX 72159845 72160346 + BX119917.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225472 chr9 14317085 14357908 + AL136366.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225473 chr3 193553213 193555088 + ATP13A4-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225475 chr1 56619409 56619549 - AC099789.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225476 chr2 143098898 143099933 - MTCO3P5 processed_pseudogene 6 17 8 16 24 41 18 13 14 ENSG00000225477 chr11 21283779 21284955 + AC099730.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225478 chr1 18595414 18595636 + AL031737.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225479 chr20 8248704 8256918 + PLCB1-IT1 sense_intronic 100874337 0 0 0 0 0 0 0 0 0 ENSG00000225480 chr22 16897445 16897546 + AC006548.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225482 chr10 48292699 48293417 + RPS6P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225483 chr1 206160887 206161276 - RPL22P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225484 chr10 79663088 79826594 - NUTM2B-AS1 antisense 101060691 283 314 301 198 250 235 320 213 188 ENSG00000225486 chr1 233836080 233836432 - AL663058.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225487 chr1 164921318 164921629 - AL390119.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225488 chr7 56482105 56483295 - AC092447.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225489 chr9 6716495 6727438 + AL354707.1 lincRNA 1 0 0 0 0 0 0 1 0 ENSG00000225491 chrY 24232826 24238984 - UBE2Q2P4Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225492 chr1 89407679 89426243 + GBP1P1 transcribed_unprocessed_pseudogene 400759 3 0 6 12 4 3 4 4 3 ENSG00000225493 chr2 238510690 238555054 - LINC01107 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225496 chr2 111940302 111941036 - AC104651.1 processed_pseudogene 1 0 0 0 0 1 0 0 0 ENSG00000225497 chr10 77147652 77150100 + KCNMA1-AS2 antisense 101929310 0 0 0 0 0 0 0 0 0 ENSG00000225498 chr7 90312496 90322592 + AC002064.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225499 chr6 31528114 31528693 + RPL15P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225501 chr13 69101832 69102056 - SNRPFP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225502 chr21 14774301 14775262 + GAPDHP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225505 chr1 92732000 92733257 + AC104332.1 processed_pseudogene 1 1 0 0 0 0 2 0 0 ENSG00000225506 chr1 47096653 47179271 - CYP4A22-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225507 chr7 47956793 47957318 + AC069282.1 processed_pseudogene 8 9 9 12 5 12 13 4 16 ENSG00000225508 chrX 52672718 52677051 + SSXP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225509 chr10 18735745 18738631 + AIFM1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225510 chr13 53199981 53202753 + PCDH8P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225511 chr9 92141298 92160114 + LINC00475 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225513 chr9 112173522 112173971 - AL158824.1 processed_pseudogene 0 2 4 0 1 0 0 0 0 ENSG00000225514 chr1 47164510 47165920 - MTND1P34 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225516 chrY 9458613 9465974 - FAM197Y5 lincRNA 100289150 0 0 0 0 0 0 0 0 0 ENSG00000225518 chr1 226083639 226090292 + LINC01703 lincRNA 2 3 0 5 5 0 3 0 0 ENSG00000225519 chr10 90994620 91006390 + AL365434.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225520 chrY 7699357 7701247 - TTTY16 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225521 chr2 241015599 241064116 - AC005237.1 antisense 0 0 0 1 1 6 0 0 0 ENSG00000225522 chr1 204183006 204183537 + AL592114.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225523 chr2 90021567 90022185 + IGKV6D-21 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000225526 chr3 12514934 12561059 - MKRN2OS protein_coding 100129480 0 0 0 1 0 2 2 0 0 ENSG00000225527 chr10 18531849 18533336 - AL450384.1 antisense 0 3 0 0 0 0 0 0 0 ENSG00000225528 chr22 39960397 39964718 + Z82206.1 protein_coding 1 1 6 10 0 16 2 0 6 ENSG00000225530 chr13 89361160 89363224 - SP3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225531 chr9 107116829 107117557 + AL807761.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225532 chr6 170736173 170737777 - AL731684.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225533 chr10 95183653 95184217 + PAWRP1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000225535 chr7 115078958 115126314 + LINC01393 lincRNA 102724386 0 0 0 3 0 3 0 0 0 ENSG00000225536 chrX 86084716 86086339 - STIP1P3 processed_pseudogene 0 2 0 0 0 0 0 0 2 ENSG00000225537 chr7 45460712 45542182 + AC073325.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225538 chr11 56082801 56084840 + OR5BE1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225539 chr2 194344269 194419645 + LINC01821 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225542 chr3 21542816 21579959 + ZNF385D-AS1 antisense 100874216 0 0 0 0 0 0 0 0 0 ENSG00000225544 chr22 21885282 21885673 - AC245452.2 processed_pseudogene 88 48 21 71 27 13 40 13 38 ENSG00000225545 chr1 170587249 170588236 - AL162399.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225546 chr7 119704556 119907375 - LINC02476 lincRNA 105375475 0 0 0 0 0 0 0 0 0 ENSG00000225548 chr3 27797563 27931579 + LINC01980 lincRNA 105377007 0 0 0 0 0 0 0 0 2 ENSG00000225549 chr6 118757518 118783420 + SELENOKP3 transcribed_processed_pseudogene 0 1 0 0 1 0 0 0 0 ENSG00000225551 chr9 92539053 92539184 - AL157827.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225552 chr3 175773145 175776333 - NAALADL2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225554 chr1 241424292 241433492 + AL359764.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225555 chr21 34370802 34375348 - AP000320.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225556 chr1 151837819 151840557 - C2CD4D protein_coding 100191040 2 1 1 7 1 9 4 0 0 ENSG00000225557 chr22 36175167 36175854 + MTCO3P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225558 chr3 37134658 37135102 + UBE2D3P2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000225559 chr7 138163440 138164637 + AC083867.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225560 chrY 9347511 9356814 - FAM197Y8 transcribed_processed_pseudogene 105379268 0 0 0 0 0 0 0 0 0 ENSG00000225561 chr1 218912757 218916184 - LINC01710 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225563 chr20 53799823 53801318 - AC006076.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225564 chr9 103140523 103325034 - LINC01492 lincRNA 101928496 0 0 0 3 0 0 0 0 0 ENSG00000225568 chr1 87045875 87046700 + AC093155.1 processed_pseudogene 2 0 0 0 0 0 0 1 2 ENSG00000225569 chrX 65270913 65273019 + CCT4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225570 chr2 181690380 181693415 - AC013733.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225572 chr7 111808516 111821773 + DOCK4-AS1 antisense 100506413 2 9 5 7 2 0 3 7 3 ENSG00000225573 chr7 66606738 66607107 - RPL35P5 processed_pseudogene 1 2 2 1 0 0 0 3 2 ENSG00000225574 chrX 8783514 8784461 - DRAXINP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225578 chr3 196939877 196942534 + NCBP2-AS1 antisense 100874001 4 2 25 26 12 15 16 9 8 ENSG00000225579 chr13 77828222 77833950 + EDNRB-AS1 lincRNA 0 0 0 0 0 0 0 3 0 ENSG00000225580 chr6 112616703 112617880 - AL358942.1 processed_pseudogene 1 1 0 0 0 0 0 1 0 ENSG00000225581 chr11 89993536 89999741 - TRIM53AP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225582 chr17 34479312 34479957 + AC011193.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225583 chr7 123932132 123932459 + AC004690.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225585 chr13 21103003 21104371 - IPPKP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225588 chr2 107362282 107407329 + AC096669.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225591 chr1 173741674 173741928 + BX248409.1 processed_pseudogene 0 0 1 0 0 0 0 0 4 ENSG00000225594 chr2 132087289 132102564 + AC098826.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225595 chr6 28859625 28864630 - LINC01623 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225598 chr1 80373364 80374621 - AL606519.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225602 chr1 11143898 11149537 + MTOR-AS1 antisense 100873935 6 16 11 9 8 3 9 1 7 ENSG00000225603 chr1 147050817 147052481 + AC244394.1 processed_pseudogene 2 1 1 7 0 1 1 0 1 ENSG00000225605 chr1 75932479 76019356 + AC092813.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225606 chr7 12570125 12571392 - AC005281.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225609 chrY 25618644 25620253 + CDY20P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225610 chr2 205989585 206000858 + AC007679.1 antisense 38 46 48 35 69 60 24 41 41 ENSG00000225611 chr3 42770612 42773635 + LINC02158 antisense 729083 256 242 220 64 139 117 94 118 65 ENSG00000225612 chr7 155267299 155268052 + AC099552.2 lincRNA 105375589 0 0 0 0 0 0 0 0 0 ENSG00000225613 chr6 52146814 52151119 - LINCMD1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225614 chr16 88427471 88440757 + ZNF469 protein_coding This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]. 84627 GO:0005634, nucleus, GO:0046872, GO:0003677, metal ion binding, DNA binding, 10 11 18 14 7 16 14 2 16 ENSG00000225615 chrY 22198429 22203712 + RBMY2UP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225616 chr1 28982278 28982608 - AL138785.1 processed_pseudogene 0 0 1 6 4 7 1 4 0 ENSG00000225619 chr2 2319232 2327110 + MYT1L-AS1 antisense 730811 0 0 0 0 0 0 0 0 0 ENSG00000225620 chr1 202632428 202632911 + AC104463.1 lincRNA 0 0 0 2 0 0 3 2 0 ENSG00000225622 chr20 16223750 16224535 - PPIAP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225623 chr1 49374201 49472085 - AGBL4-IT1 sense_intronic 100874313 0 0 0 0 0 0 0 0 0 ENSG00000225624 chrY 20727254 20742900 + TBL1YP1 unprocessed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000225625 chr15 56846340 56846605 + AC090517.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225626 chr9 69818983 69820739 - C9orf135-DT lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225630 chr1 629640 630683 + MTND2P28 unprocessed_pseudogene 207 153 194 461 317 394 422 184 269 ENSG00000225632 chr1 54285405 54287371 + AL161644.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225636 chr2 197014990 197016015 + HNRNPA3P15 processed_pseudogene 7 11 8 6 14 4 18 8 19 ENSG00000225637 chr21 43363332 43366566 + AP001046.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225638 chr10 38635908 38638082 + PABPC1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225639 chr9 35943210 35943934 - PGAM1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225640 chr20 5507875 5510002 - LINC01729 lincRNA 101929207 1 0 0 0 2 0 4 0 0 ENSG00000225642 chr2 8603082 8603359 + SNRPEP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225643 chr1 25581478 25590356 + AL606491.1 lincRNA 0 0 0 0 0 7 2 0 0 ENSG00000225644 chr6 33389374 33389475 - RPL35AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225647 chr7 108598375 108614267 + AC005487.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000225648 chr7 72829425 72836701 + SBDSP1 transcribed_unprocessed_pseudogene 24 15 35 71 18 88 53 19 49 ENSG00000225649 chr2 12966784 13007013 - AC064875.1 processed_transcript 100506474 0 0 0 0 0 0 0 0 0 ENSG00000225650 chr1 114468315 114469282 + EIF2S2P5 processed_pseudogene 0 1 0 0 0 0 1 0 3 ENSG00000225652 chr10 77354404 77376613 + KCNMA1-AS3 antisense 0 0 0 0 1 0 0 0 0 ENSG00000225653 chrY 3777997 3779546 - RNF19BPY processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225655 chr9 41073710 41076392 + BX255923.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225656 chr1 230823641 230824707 - AL118511.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225657 chr20 56577563 56598621 + LINC01716 lincRNA 105372682 0 0 0 0 0 0 2 0 0 ENSG00000225658 chr2 74351134 74351419 + TAF13P2 processed_pseudogene 0 0 2 0 1 0 0 0 0 ENSG00000225660 chrX 146955075 146955209 + Z99497.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225661 chrX 1008503 1010101 - RPL14P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225662 chr3 62779176 62779785 - AC012519.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225663 chr17 81822361 81833302 - MCRIP1 protein_coding 348262 GO:0010494, GO:0005737, GO:0005634, cytoplasmic stress granule, cytoplasm, nucleus, GO:0005515, protein binding, GO:0010717, regulation of epithelial to mesenchymal transition, 195 214 223 155 196 159 210 177 144 ENSG00000225664 chrX 73274785 73275515 + YWHAZP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225665 chr4 120342056 120342647 + SAR1AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225669 chr2 104678223 104678673 + RPL23AP27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225670 chr1 159194325 159207973 - CADM3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225671 chr1 50405430 50406024 - FCF1P6 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000225672 chr1 111007700 111015530 - CCNT2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225673 chr3 60730055 60730644 - AC104164.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225674 chr13 24122065 24123814 - IPO7P2 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000225675 chr1 53328233 53336509 + LINC01771 lincRNA 105378732 0 0 0 2 0 2 1 4 0 ENSG00000225676 chr22 30184644 30207109 - AC002378.1 antisense 105372988 1 0 4 0 6 1 2 2 9 ENSG00000225678 chr11 102751070 102754943 - AP000619.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225680 chr14 53599832 53614026 - AL163953.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225681 chr17 20056287 20056630 + AC005730.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225683 chr6 163165414 163192002 - PACRG-AS3 antisense 729658 0 0 0 0 0 0 0 0 0 ENSG00000225684 chr9 113103338 113111500 - FAM225B lincRNA 100128385 0 0 0 0 1 0 1 0 0 ENSG00000225685 chrY 10066554 10069151 - TSPY5P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225689 chrX 128323620 128600468 - AL442647.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225690 chr6 41247369 41249649 + TREML5P unprocessed_pseudogene 39 87 67 23 95 99 30 47 55 ENSG00000225693 chr9 33019682 33020165 - LAGE3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225695 chr2 201063089 201064051 + HNRNPA1P35 processed_pseudogene 2 2 5 0 8 1 7 1 3 ENSG00000225697 chr3 48625723 48635493 - SLC26A6 protein_coding This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013]. 65010 GO:0097225, GO:0034707, GO:0031982, GO:0031526, GO:0030659, GO:0016324, GO:0016323, GO:0016021, GO:0016020, GO:0012506, GO:0005887, GO:0005886, GO:0005783, sperm midpiece, chloride channel complex, vesicle, brush border membrane, cytoplasmic vesicle membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, membrane, vesicle membrane, integral component of plasma membrane, plasma membrane, endoplasmic reticulum, GO:0030165, GO:0019531, GO:0019531, GO:0015660, GO:0015562, GO:0015499, GO:0015301, GO:0015301, GO:0015301, GO:0015116, GO:0015116, GO:0015108, GO:0015108, GO:0015108, GO:0015106, GO:0015106, GO:0015106, GO:0008271, GO:0005254, PDZ domain binding, oxalate transmembrane transporter activity, oxalate transmembrane transporter activity, formate efflux transmembrane transporter activity, efflux transmembrane transporter activity, formate transmembrane transporter activity, anion:anion antiporter activity, anion:anion antiporter activity, anion:anion antiporter activity, sulfate transmembrane transporter activity, sulfate transmembrane transporter activity, chloride transmembrane transporter activity, chloride transmembrane transporter activity, chloride transmembrane transporter activity, bicarbonate transmembrane transporter activity, bicarbonate transmembrane transporter activity, bicarbonate transmembrane transporter activity, secondary active sulfate transmembrane transporter activity, chloride channel activity, GO:2001150, GO:1902476, GO:1902358, GO:0071346, GO:0071332, GO:0071320, GO:0070633, GO:0051454, GO:0051453, GO:0050892, GO:0048240, GO:0046724, GO:0042045, GO:0030321, GO:0030321, GO:0019532, GO:0019532, GO:0015797, GO:0015724, GO:0015701, GO:0008272, GO:0008272, GO:0006821, GO:0006811, positive regulation of dipeptide transmembrane transport, chloride transmembrane transport, sulfate transmembrane transport, cellular response to interferon-gamma, cellular response to fructose stimulus, cellular response to cAMP, transepithelial transport, intracellular pH elevation, regulation of intracellular pH, intestinal absorption, sperm capacitation, oxalic acid secretion, epithelial fluid transport, transepithelial chloride transport, transepithelial chloride transport, oxalate transport, oxalate transport, mannitol transport, formate transport, bicarbonate transport, sulfate transport, sulfate transport, chloride transport, ion transport, 46 45 56 75 70 44 64 49 61 ENSG00000225698 chr14 106790691 106791233 - IGHV3-72 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000225701 chr7 88448788 88449017 - EIF4A1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225703 chr7 76972679 76976961 - AC114737.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000225705 chr7 48846426 48852898 - AC004899.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225706 chr9 8858130 8862255 + PTPRD-AS1 lincRNA 101929407 0 0 0 0 0 0 0 0 0 ENSG00000225708 chr20 58069054 58072070 - AL354984.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225710 chr1 16548651 16552531 - AL355149.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225711 chr1 179220938 179222125 + AL512326.1 processed_pseudogene 2 0 0 0 0 2 0 0 0 ENSG00000225712 chr1 209267798 209268223 - ATP5MC2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225713 chr1 174090136 174090474 - RPL30P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225715 chrX 80709928 80710705 + AL512504.1 processed_pseudogene 6 0 3 0 1 1 9 2 9 ENSG00000225716 chrY 18440797 18441125 + ELOCP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225718 chr7 69224696 69430923 - AC092100.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225719 chr1 164343005 164343864 + NMNAT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225720 chr22 39091586 39092855 + AL031846.1 transcribed_unprocessed_pseudogene 0 5 6 3 0 3 9 4 5 ENSG00000225721 chr1 44759037 44775810 - AL592166.1 antisense 111 51 48 429 120 494 307 25 304 ENSG00000225722 chrX 3953056 3953561 + BX890604.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225723 chr1 237949214 237949734 + MTND6P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225724 chr22 22339573 22341214 + ASH2LP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000225725 chr8 7955014 8008755 + FAM66E lincRNA 100132103 0 0 0 0 0 0 1 0 0 ENSG00000225726 chr7 77071751 77072237 - AC007000.2 processed_pseudogene 12 6 8 4 14 0 18 2 10 ENSG00000225727 chr13 44437057 44464921 + AL139184.1 transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000225728 chrX 107939263 107939642 - AL034399.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225730 chr6 46903471 46909078 + AL096772.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225731 chr21 42733594 42741758 - AP001627.1 antisense 0 0 1 0 1 13 0 0 0 ENSG00000225733 chr3 14920347 14948424 - FGD5-AS1 antisense 100505641 1355 1312 1509 526 952 790 701 818 765 ENSG00000225735 chr21 17210469 17211347 - NEK4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225738 chr10 82228985 82232920 - NRG3-AS1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000225739 chr7 36818959 36819690 + NPM1P18 processed_pseudogene 0 0 0 0 0 1 4 0 0 ENSG00000225740 chrY 17837201 17837528 - ELOCP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225741 chr22 22103219 22104857 + AC245517.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225742 chr3 194203016 194250153 - LINC02036 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000225744 chr2 111607841 111612518 + AC017002.2 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000225746 chr14 100894770 101038859 + MEG8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225750 chr1 29144494 29146994 - AL357500.1 lincRNA 3 0 1 1 1 0 4 1 0 ENSG00000225751 chr17 9452197 9470014 + AC087501.1 antisense 0 0 0 0 2 0 0 0 2 ENSG00000225752 chr6 143094034 143099645 - AL023581.1 antisense 1 1 3 2 0 0 0 0 0 ENSG00000225755 chr1 163237214 163239197 + AL451063.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225756 chr9 133654586 133657313 - DBH-AS1 antisense 138948 2 1 2 1 1 10 12 0 5 ENSG00000225758 chrX 140470866 140471274 - RPS17P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225759 chr20 37619298 37623119 - LINC00489 lincRNA 100861522 0 0 0 0 0 0 0 0 0 ENSG00000225760 chr13 110965704 110990579 + LINC00431 transcribed_unprocessed_pseudogene 0 2 2 0 6 2 0 2 0 ENSG00000225761 chr10 74005137 74027915 + AL596247.1 sense_intronic 0 0 1 3 0 0 0 0 0 ENSG00000225762 chr1 47380928 47408477 - LINC01389 antisense 1 2 0 3 5 0 2 0 0 ENSG00000225764 chr3 190120964 190144846 + P3H2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225765 chr2 104412227 104414008 - LINC01831 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225766 chr14 24036453 24051028 + DHRS4L1 transcribed_unprocessed_pseudogene 728635 GO:0016491, oxidoreductase activity, GO:0055114, oxidation-reduction process, 0 0 0 0 0 0 0 0 0 ENSG00000225767 chr1 50461469 50471150 + AL049637.1 antisense 1 0 0 0 1 0 1 0 0 ENSG00000225768 chr10 104474939 104480274 - AL161646.1 lincRNA 101927523 0 0 0 0 0 0 1 0 0 ENSG00000225769 chrX 135432960 135438634 + CROCCP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225770 chr3 196536532 196536702 + RPS29P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225774 chr22 30542536 30544305 + SIRPAP1 processed_pseudogene 22 6 23 2 2 10 3 3 7 ENSG00000225775 chr6 9124221 9161777 - AL137220.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225777 chr13 22704739 22706206 - DDX39AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225778 chr10 11849608 11894700 - PROSER2-AS1 antisense 219731 0 0 0 0 0 0 0 0 0 ENSG00000225779 chr1 46370586 46370955 + AL122001.1 processed_pseudogene 3 0 0 2 0 0 1 0 0 ENSG00000225781 chr7 143052320 143053347 + OR6V1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 346517 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000225783 chr22 26646428 26676475 + MIAT lincRNA This gene encodes a spliced long non-coding RNA that may constitute a component of the nuclear matrix. Altered expression of this locus has been reported to be associated with a susceptibility to myocardial infarction. It has also been proposed that pathways involving this transcript may contribute to the pathophysiology of schizophrenia. A similar gene in mouse has been associated with retinal cell fate determination. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2014]. 440823 GO:0005634, nucleus, GO:0001708, cell fate specification, 270 390 732 550 205 1014 492 183 635 ENSG00000225785 chr20 52451464 52455619 - AL109610.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225787 chr2 85102389 85102694 - LSM3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225790 chr3 177934823 177937662 + AC007953.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225791 chr6 52577307 52583993 + TRAM2-AS1 lincRNA 401264 6 7 6 1 13 3 4 3 9 ENSG00000225792 chr7 26372144 26376701 - AC004540.2 antisense 247 217 277 91 163 117 106 172 96 ENSG00000225793 chr6 75285014 75297003 + AL080250.1 lincRNA 2 0 2 0 1 1 0 0 0 ENSG00000225794 chr2 216604771 216611202 + AC073321.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225795 chr7 122676580 122676811 + AC006463.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225796 chr2 201213298 201214660 - MTND4P23 unprocessed_pseudogene 0 2 0 5 3 5 9 4 0 ENSG00000225797 chr6 29464596 29469806 - UBDP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225798 chr15 58889967 58894082 + AC025918.1 antisense 32 35 50 36 47 33 63 21 24 ENSG00000225801 chr13 71296210 71297235 + RABEPKP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225802 chr11 59255360 59259486 + WARSP1 unprocessed_pseudogene 5 11 10 5 3 0 0 3 4 ENSG00000225803 chr20 20854121 20854642 - MRPS11P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225805 chr11 71878453 71884561 + DEFB131B protein_coding 100129216 GO:0005615, extracellular space, GO:0045087, GO:0042742, innate immune response, defense response to bacterium, 0 1 0 0 0 0 1 0 0 ENSG00000225806 chr20 58863528 58888809 - AL121917.1 antisense 0 0 0 0 1 0 0 0 1 ENSG00000225807 chr7 100509717 100519926 + AC069281.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000225808 chr2 177229191 177229506 - DNAJC19P5 processed_pseudogene 25 48 39 23 57 85 41 46 38 ENSG00000225809 chrY 8264449 8277188 - RBMY2KP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225811 chr1 190264898 190362270 + AL354771.1 antisense 0 0 0 1 0 0 0 0 0 ENSG00000225813 chr2 161281902 161282618 + AC009299.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225814 chrX 64697878 64698547 - GRPEL2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225815 chr2 66327349 66328984 + AC092669.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225816 chr7 14985378 14986074 - GTF3AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225818 chr17 71596338 71597279 + AC118653.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225819 chr2 130515997 130526691 - AC013269.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225822 chr3 196431385 196432530 + UBXN7-AS1 antisense 32 33 38 10 18 41 14 15 29 ENSG00000225823 chr13 104814327 104815069 + RPL7P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225825 chr14 105881539 105881556 - IGHD6-25 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000225826 chr1 168786939 168792886 + LINC00626 lincRNA 79100 0 0 0 0 0 0 0 0 0 ENSG00000225827 chr10 79595294 79595660 - SFTPA3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225828 chr1 32361270 32364278 - FAM229A protein_coding 100128071 141 160 130 74 116 112 63 75 65 ENSG00000225830 chr10 49455368 49539538 - ERCC6 protein_coding This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]. 2074 GO:0090734, GO:0008023, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, site of DNA damage, transcription elongation factor complex, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0047485, GO:0044877, GO:0043565, GO:0030296, GO:0008094, GO:0008094, GO:0008094, GO:0008022, GO:0005524, GO:0005515, GO:0003682, GO:0003682, GO:0003678, GO:0003677, protein N-terminus binding, protein-containing complex binding, sequence-specific DNA binding, protein tyrosine kinase activator activity, DNA-dependent ATPase activity, DNA-dependent ATPase activity, DNA-dependent ATPase activity, protein C-terminus binding, ATP binding, protein binding, chromatin binding, chromatin binding, DNA helicase activity, DNA binding, GO:2001033, GO:1905168, GO:0097680, GO:0061098, GO:0060261, GO:0045815, GO:0045739, GO:0045739, GO:0045494, GO:0043044, GO:0035264, GO:0032786, GO:0032784, GO:0032508, GO:0031175, GO:0030182, GO:0022008, GO:0010332, GO:0010224, GO:0010165, GO:0009636, GO:0009411, GO:0008630, GO:0007257, GO:0007256, GO:0006979, GO:0006979, GO:0006366, GO:0006362, GO:0006290, GO:0006284, GO:0006283, GO:0006283, GO:0006283, GO:0000303, GO:0000077, GO:0000012, negative regulation of double-strand break repair via nonhomologous end joining, positive regulation of double-strand break repair via homologous recombination, double-strand break repair via classical nonhomologous end joining, positive regulation of protein tyrosine kinase activity, positive regulation of transcription initiation from RNA polymerase II promoter, positive regulation of gene expression, epigenetic, positive regulation of DNA repair, positive regulation of DNA repair, photoreceptor cell maintenance, ATP-dependent chromatin remodeling, multicellular organism growth, positive regulation of DNA-templated transcription, elongation, regulation of DNA-templated transcription, elongation, DNA duplex unwinding, neuron projection development, neuron differentiation, neurogenesis, response to gamma radiation, response to UV-B, response to X-ray, response to toxic substance, response to UV, intrinsic apoptotic signaling pathway in response to DNA damage, activation of JUN kinase activity, activation of JNKK activity, response to oxidative stress, response to oxidative stress, transcription by RNA polymerase II, transcription elongation from RNA polymerase I promoter, pyrimidine dimer repair, base-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, transcription-coupled nucleotide-excision repair, response to superoxide, DNA damage checkpoint, single strand break repair, 218 228 283 207 243 316 202 170 268 ENSG00000225831 chr20 5532878 5533335 + RPS18P1 processed_pseudogene 6 0 1 4 1 2 6 4 3 ENSG00000225832 chr6 20722328 20723655 - AL035090.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225833 chrX 15602881 15621484 + GS1-594A7.3 antisense 104798195 0 0 0 0 0 0 0 0 0 ENSG00000225836 chr10 89646289 89650822 - AL157400.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225839 chrX 101043564 101094476 - TRMT2B-AS1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000225840 chrY 10197256 10199103 - AC010970.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225842 chr2 52474073 52474411 - AC139712.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225843 chr7 91320128 91321103 - NIPA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225846 chr4 76036750 76037064 - AC112719.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225849 chr20 46463719 46477232 - MKRN7P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225850 chr10 97334564 97343203 + AL355490.1 bidirectional_promoter_lncRNA 374 430 352 39 125 77 52 92 61 ENSG00000225851 chr6 31382074 31382288 - HLA-S unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225854 chr1 26326688 26327033 + AL451139.1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000225855 chr1 155316863 155324176 - RUSC1-AS1 antisense 284618 GO:0005515, protein binding, 146 169 165 101 190 123 159 138 129 ENSG00000225856 chr9 88970887 88971341 - PCNPP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225857 chr1 180906651 180909166 + AL162431.1 lincRNA 0 0 1 0 2 0 0 0 0 ENSG00000225858 chrX 72660470 72660719 + BX295541.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225864 chr6 29722981 29723971 - AL645939.1 unprocessed_pseudogene 10 4 12 14 8 9 21 24 5 ENSG00000225867 chr22 37550026 37551735 + AL022315.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225868 chr19 37823722 37855215 - AC016582.1 transcribed_unprocessed_pseudogene 100631378 0 0 0 0 0 0 0 0 0 ENSG00000225869 chr5 143752090 143752704 - AC008696.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225870 chr13 111095838 111103097 + LINC00368 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225871 chr1 148435105 148436926 + AC245100.2 processed_pseudogene 34 29 39 22 25 31 28 25 15 ENSG00000225872 chr19 35785697 35797902 - LINC01529 transcribed_unprocessed_pseudogene 644050 0 0 5 5 6 2 1 0 3 ENSG00000225873 chr3 44421127 44439946 - C3orf86 transcribed_unitary_pseudogene 102724231 140 207 264 105 257 207 145 186 144 ENSG00000225876 chrY 26244351 26244573 - AC024067.1 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000225877 chr19 42821863 42826878 + PSG8-AS1 lincRNA 100289650 0 0 0 0 0 0 0 0 0 ENSG00000225878 chrY 4801685 4802848 - SERBP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225879 chr6 168962610 168964341 - AL109924.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225880 chr1 826206 827522 - LINC00115 lincRNA 79854 43 27 34 79 109 180 109 100 148 ENSG00000225881 chr7 132758970 132760632 + AC009365.1 antisense 100506937 0 0 0 0 0 0 0 0 0 ENSG00000225882 chrX 17970197 18104644 - LINC01456 lincRNA 105373144 0 0 0 0 0 0 0 0 0 ENSG00000225883 chr9 64705734 64709311 - BMS1P11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225884 chr2 191793425 191820250 + AC098872.1 antisense 729254 0 0 0 3 2 0 2 2 0 ENSG00000225885 chr8 118282139 118400605 + AC023590.1 antisense 1 0 1 0 1 5 1 0 0 ENSG00000225886 chr1 27669468 27703063 + AL445490.1 antisense 10 22 11 7 13 10 4 8 13 ENSG00000225889 chr2 64143239 64252859 + AC012368.1 antisense 1965 1846 2683 2429 3065 3168 2473 2238 2682 ENSG00000225891 chr1 26462756 26467282 - AL513365.2 antisense 10 3 6 14 10 4 11 4 6 ENSG00000225893 chr9 4633027 4633756 + AL136231.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225895 chrY 18105314 18108102 + TRAPPC2P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225896 chrY 17726752 17727080 + AC007742.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225898 chr7 93777839 93778514 + AC002075.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225899 chr10 133623895 133626795 - FRG2B protein_coding 441581 GO:0005634, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000225900 chr2 39098149 39098445 - HSPE1P13 processed_pseudogene 0 2 0 0 0 1 0 0 0 ENSG00000225901 chr9 80565032 80565962 - MTND2P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225903 chr1 39633416 39633903 + AL035404.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225904 chr1 176367699 176368401 - MORF4L1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225905 chr1 1420245 1422691 + AL391244.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225906 chr21 22882582 22884000 + AP000949.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225907 chr7 30167804 30168004 + RPS27P16 processed_pseudogene 0 0 1 0 2 0 5 0 1 ENSG00000225911 chr2 220048822 220049272 - AC009310.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225912 chrX 92676519 92676954 - AL121871.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225913 chr10 87607985 87659279 + AL138767.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225914 chr6 32254640 32407763 + HCG23 antisense 414764 0 0 0 0 0 0 0 0 0 ENSG00000225916 chr2 207226949 207228308 + AC007879.2 lincRNA 8 5 3 1 4 0 3 2 1 ENSG00000225918 chr7 145039999 145040941 - RPL7P59 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225919 chr1 232718071 232722250 + LINC01745 lincRNA 105373199 0 0 0 0 0 0 0 0 0 ENSG00000225920 chr1 219199914 219200567 - RIMKLBP2 processed_pseudogene 8 17 19 0 24 8 19 8 12 ENSG00000225921 chr6 13615327 13632739 + NOL7 protein_coding The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]. 51406 GO:0005730, nucleolus, GO:0005515, GO:0003723, protein binding, RNA binding, 158 131 180 141 149 284 130 142 135 ENSG00000225922 chr10 67793770 67794245 + RPL21P92 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225923 chr1 96390652 96391393 + AC092393.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225924 chr6 149243299 149257551 - TAB2-AS1 lincRNA 105378049 0 0 3 3 2 1 3 2 3 ENSG00000225925 chrX 68474710 68476874 + AL672138.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225928 chr10 84454679 84456056 - CACYBPP1 processed_pseudogene 0 0 0 0 1 3 0 0 0 ENSG00000225929 chr22 50735825 50738139 - AC000036.1 antisense 105373100 0 0 0 0 0 0 0 0 0 ENSG00000225930 chr15 30195809 30217552 + LINC02249 lincRNA 26082 0 0 0 0 0 0 0 0 0 ENSG00000225931 chr1 2566410 2569888 + AL139246.2 TEC 0 2 1 2 7 8 4 1 0 ENSG00000225932 chr7 144183466 144186053 + CTAGE4 protein_coding 100128553 GO:0070971, GO:0016021, GO:0005789, GO:0005575, endoplasmic reticulum exit site, integral component of membrane, endoplasmic reticulum membrane, cellular_component, GO:0035459, GO:0009306, GO:0008150, GO:0006888, vesicle cargo loading, protein secretion, biological_process, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 4 1 0 2 2 0 1 ENSG00000225933 chr2 87654890 87655243 + AC133965.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000225934 chr1 227598424 227599094 - AL592310.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225935 chr7 107642765 107643023 - BANF1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225936 chr10 117239600 117241923 - AL731557.1 antisense 1 2 0 0 0 5 0 2 3 ENSG00000225937 chr9 76691980 76863307 + PCA3 antisense This gene produces a spliced, long non-coding RNA that is highly overexpressed in most types of prostate cancer cells and is used as a specific biomarker for this type of cancer. This gene is embedded in an intronic region of the prune2 gene on the opposite DNA strand. The transcript regulates prune2 levels through formation of a double-stranded RNA that undergoes adenosine deaminase acting on RNA-dependent adenosine-to-inosine RNA editing. In prostate cancer derived cells, overexpression of PCA induced downregulation of prune2, leading to decreased cell proliferation. Conversely, silencing in prostate cancer cells resulted in increased proliferation. Regulation of this gene appears to be sensitive to androgen-receptor activation, a molecular signature of prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]. 50652 0 0 0 0 0 0 0 0 0 ENSG00000225938 chr1 101235683 101236528 - AL109741.1 antisense 2 0 13 6 0 0 1 0 3 ENSG00000225940 chr5 56511567 56606232 - C5orf67 protein_coding 10 11 12 26 12 6 2 8 16 ENSG00000225942 chr2 545805 546667 + LINC01875 lincRNA 101927362 0 0 0 0 0 0 0 0 0 ENSG00000225943 chr2 30077093 30078272 + AC016907.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225944 chr13 74828553 74830080 + RIOK3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225945 chr6 37815777 37819218 - AL121574.1 antisense 0 0 0 4 0 0 5 0 0 ENSG00000225947 chr9 72470374 72471076 + AL596448.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225948 chr10 6618716 6625346 + AL158210.1 lincRNA 0 2 4 7 5 3 17 4 3 ENSG00000225949 chrX 133141300 133143940 - Z77249.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225950 chr19 49061066 49065054 - NTF4 protein_coding This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq, Jul 2008]. 4909 GO:0030425, GO:0030424, GO:0008021, GO:0005615, GO:0005576, dendrite, axon, synaptic vesicle, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005163, growth factor activity, protein binding, nerve growth factor receptor binding, GO:0061193, GO:0060384, GO:0050804, GO:0048812, GO:0048011, GO:0045664, GO:0043524, GO:0042490, GO:0038180, GO:0033138, GO:0021675, GO:0008544, GO:0008344, GO:0008052, GO:0007616, GO:0007613, GO:0007422, GO:0007402, GO:0007202, GO:0007169, taste bud development, innervation, modulation of chemical synaptic transmission, neuron projection morphogenesis, neurotrophin TRK receptor signaling pathway, regulation of neuron differentiation, negative regulation of neuron apoptotic process, mechanoreceptor differentiation, nerve growth factor signaling pathway, positive regulation of peptidyl-serine phosphorylation, nerve development, epidermis development, adult locomotory behavior, sensory organ boundary specification, long-term memory, memory, peripheral nervous system development, ganglion mother cell fate determination, activation of phospholipase C activity, transmembrane receptor protein tyrosine kinase signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000225951 chr9 128468957 128473012 - ODF2-AS1 antisense 18 13 21 21 8 14 22 10 3 ENSG00000225952 chr1 22835713 22836849 - AL512444.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225953 chr2 199457700 199476935 + SATB2-AS1 antisense 150538 0 0 0 0 0 0 0 0 0 ENSG00000225956 chr20 13244064 13245369 - AL050320.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225957 chrX 52382053 52385614 + AC231532.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225959 chr7 68266319 68266859 - MTND4P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225960 chr9 119973094 119974322 + AL441989.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225963 chr2 230121370 230174223 + AC009950.1 antisense 329 338 383 174 327 386 286 279 310 ENSG00000225964 chr2 6828514 6840464 - NRIR antisense 8 3 15 15 4 7 6 8 8 ENSG00000225965 chr10 38161570 38161749 + AL117339.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225968 chr7 1688119 1747954 + ELFN1 protein_coding 392617 GO:0060076, GO:0031012, GO:0030425, GO:0016021, GO:0005615, excitatory synapse, extracellular matrix, dendrite, integral component of membrane, extracellular space, GO:0004864, protein phosphatase inhibitor activity, GO:0050808, GO:0032515, GO:0010923, synapse organization, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, 0 0 0 0 0 0 0 0 0 ENSG00000225969 chr7 73735038 73736158 + ABHD11-AS1 transcribed_unitary_pseudogene 3 3 2 0 1 5 1 0 0 ENSG00000225970 chrX 143757737 143828133 + AL500522.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225971 chr22 30136673 30137681 - AC003071.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225972 chr1 629062 629433 + MTND1P23 unprocessed_pseudogene 0 3 1 0 6 0 2 0 0 ENSG00000225973 chr15 55317184 55319161 - PIGBOS1 protein_coding 101928527 GO:0031307, integral component of mitochondrial outer membrane, GO:0005515, protein binding, GO:1900101, GO:0006986, regulation of endoplasmic reticulum unfolded protein response, response to unfolded protein, 58 85 98 53 87 120 62 94 83 ENSG00000225974 chr7 15689075 15690854 - AC005550.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225975 chr19 36685440 36687449 - LINC01534 lincRNA 101927621 1 10 4 7 3 9 1 1 3 ENSG00000225976 chr10 29697935 29698174 + CKS1BP2 processed_pseudogene 0 0 1 0 1 0 0 0 1 ENSG00000225978 chr20 63102205 63104386 + HAR1A lincRNA 1 0 6 5 5 2 0 5 1 ENSG00000225979 chr2 197311393 197312740 + AC010746.1 antisense 2 3 2 2 1 0 0 2 6 ENSG00000225980 chr19 9265440 9268819 - OR7E19P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225981 chr7 1459937 1464008 + AC102953.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000225982 chr1 182086551 182090112 + AL355482.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000225984 chr1 229705234 229705861 - HMGB1P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225986 chr1 20184242 20186486 - UBXN10-AS1 antisense 0 0 4 0 0 0 0 0 3 ENSG00000225988 chr20 9505180 9514998 - LAMP5-AS1 antisense 101929329 0 0 0 0 0 3 0 0 0 ENSG00000225990 chr1 27211265 27211484 + SNRPEP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225991 chr2 28308161 28308570 + RPL23AP34 processed_pseudogene 1 5 4 0 3 4 6 8 4 ENSG00000225992 chr7 38322446 38322730 - TRGVA TR_V_pseudogene 0 0 0 2 0 2 0 2 5 ENSG00000225997 chr11 54682877 54683821 + OR4A8 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000225999 chr13 100027769 100028174 - NDUFA12P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226002 chr7 65084103 65100232 + GTF2IP14 unprocessed_pseudogene 2 10 5 1 13 14 4 6 17 ENSG00000226003 chr1 160848010 160848502 + PPIAP37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226004 chr6 137943079 137945802 - AL591468.1 lincRNA 105378020 3 2 0 0 1 0 0 0 1 ENSG00000226005 chr10 3912027 3935813 + AL513303.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226007 chr9 62532337 62534724 + BX005266.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226008 chr3 198228194 198228376 + SEPT14P3 unprocessed_pseudogene 0 1 0 0 1 0 1 1 2 ENSG00000226009 chr10 101819078 101828779 + KCNIP2-AS1 antisense 1 1 0 1 2 0 0 0 0 ENSG00000226010 chrX 64144872 64147052 - AL355852.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226011 chrY 17809807 17825329 + OFD1P1Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226012 chr21 38237217 38238201 - AP001434.1 lincRNA 41 33 108 26 30 56 31 16 41 ENSG00000226013 chr1 216201635 216201826 - MRPS18BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226014 chr1 240549867 240550378 - AL358176.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226015 chr1 147203276 147204932 - CCT8P1 processed_pseudogene 3 4 7 7 4 10 1 4 4 ENSG00000226016 chr10 27904209 27905162 + RPL36AP55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226017 chr3 64187544 64200965 + PRICKLE2-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226020 chr9 63774870 63775241 - CDK2AP2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226022 chr3 6148484 6365885 + AC026167.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226023 chrX 120958165 120961487 - CT47A6 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. 728062 0 0 0 0 0 0 0 0 0 ENSG00000226024 chr22 39120293 39120566 - COX5BP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226025 chr19 39679374 39686373 + LGALS17A transcribed_unprocessed_pseudogene 400696 1 0 0 0 0 1 0 0 0 ENSG00000226026 chr1 95163219 95233982 - AC092802.1 antisense 101928118 0 0 0 0 0 0 0 0 0 ENSG00000226028 chr1 143619994 143620527 + PFN1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226029 chr1 16460948 16468481 + LINC01772 lincRNA 107984921 21 30 29 25 43 23 25 19 21 ENSG00000226030 chr6 32730758 32731695 - HLA-DQB3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226031 chrX 138711452 138716617 + FGF13-AS1 antisense 100129662 5 0 1 0 0 0 0 1 0 ENSG00000226032 chr6 159042192 159095823 - AL035530.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000226034 chr2 100660199 100660678 + NANOGNBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226036 chr1 212647296 212647755 + AL590648.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226037 chr13 89477608 89500509 - LINC01040 lincRNA 105370308 0 0 0 0 0 0 0 0 0 ENSG00000226038 chr20 43230760 43231260 + PPIAP21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226040 chr5 141896168 141896689 - AC005740.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226041 chr2 16202430 16204226 + AC010745.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226042 chrY 21637475 21639041 - CDY10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226043 chr21 22209939 22420819 + AP000561.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226045 chr7 130645225 130645594 - AC234644.1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000226046 chr7 97437518 97437896 + AP1S2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226047 chr9 107117459 107121705 - AL807761.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226048 chrX 46684765 46685707 - YBX1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226049 chr17 34036681 34039872 - TLK2P1 processed_pseudogene 62 25 35 11 26 21 30 23 19 ENSG00000226051 chr10 75269819 75373500 + ZNF503-AS1 lincRNA 253264 0 0 0 0 0 0 0 0 0 ENSG00000226053 chr1 98210747 98272658 + LINC01776 lincRNA 729987 0 0 0 0 0 0 0 0 0 ENSG00000226054 chr21 36130489 36131376 + MEMO1P1 processed_pseudogene 14 4 26 12 11 11 17 12 24 ENSG00000226055 chr9 37878116 37879493 + PAICSP1 processed_pseudogene 4 7 11 4 1 14 5 5 6 ENSG00000226056 chrX 102799942 102801399 + MTND4P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226057 chr13 18946755 19062718 - PHF2P2 transcribed_unprocessed_pseudogene 0 0 0 7 0 0 2 0 0 ENSG00000226058 chr2 101375587 101376055 + AC092570.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226059 chr7 26982768 26983367 - HMGB3P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226061 chrY 10173853 10174207 + PCMTD1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226063 chr7 35258381 35259729 - AC009531.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226064 chrX 143343976 143344585 + PGBD4P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226065 chr2 110383112 110384642 + ZBTB45P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226066 chr7 136485656 136488317 + AC009541.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226067 chr1 120913275 121009291 + LINC00623 lincRNA 235 210 238 158 215 299 194 226 209 ENSG00000226068 chr6 48149203 48150005 - HNRNPA3P4 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000226070 chr6 40358744 40369474 - AL139275.1 lincRNA 0 0 0 1 0 0 0 1 0 ENSG00000226072 chr2 169658132 169661357 - AC016772.1 processed_pseudogene 1 0 0 0 0 0 0 0 2 ENSG00000226074 chr3 46809359 46812558 - PRSS44 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000226075 chr7 63233035 63234245 - PHKG1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226078 chr9 126527618 126530343 + AL356309.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226079 chr6 114523451 114535875 - AL138830.1 lincRNA 105377959 0 0 0 0 0 0 0 0 0 ENSG00000226080 chr2 11102142 11102997 + AC062028.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226081 chrX 90112650 90113706 + USP12PX processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226082 chr3 62926371 62926882 + AC096915.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226083 chr10 18001786 18010562 - SLC39A12-AS1 antisense 100129213 0 0 0 0 0 0 0 0 0 ENSG00000226084 chr1 77129114 77129668 + AC113935.1 processed_pseudogene 14 10 23 24 13 31 18 11 14 ENSG00000226085 chr22 39875289 39876108 + UQCRFS1P1 processed_pseudogene 7 6 2 2 1 10 10 3 4 ENSG00000226086 chr10 38080056 38080877 - EIF3LP3 processed_pseudogene 0 0 1 1 3 6 3 4 5 ENSG00000226087 chr2 47225794 47239225 + AC073283.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226088 chr1 70359562 70360437 - AL158839.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226089 chr6 81527102 81534915 - AL122017.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000226091 chr12 8295986 8396803 - LINC00937 lincRNA 389634 80 69 274 163 119 368 152 89 265 ENSG00000226092 chrY 21927521 21937150 - RBMY2AP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226093 chr13 42003430 42003637 + RPS28P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226094 chr20 62572671 62573384 + RPL7P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226096 chr17 20609462 20609610 - AC087499.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226097 chr7 20296708 20311712 + AC099342.1 lincRNA 101927769 0 0 0 0 0 0 0 0 0 ENSG00000226098 chr8 54522799 54523297 - SEC11B processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000226101 chr17 72072333 72093481 + LINC02097 lincRNA 101928205 0 0 0 0 0 0 0 0 0 ENSG00000226102 chr7 35946294 35972587 + SEPT7P3 unprocessed_pseudogene 0 1 1 1 2 2 2 3 1 ENSG00000226107 chrX 134522702 134522990 + AC004383.1 processed_pseudogene 0 0 1 0 0 0 0 1 0 ENSG00000226108 chr9 39734670 39735628 + RAB28P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226110 chrX 53768986 53769219 - BX323845.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226112 chrX 111169221 111169403 + FCF1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226113 chr10 38247922 38333155 + AL133217.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226114 chr2 86934462 86934822 - NDUFB4P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226115 chr21 46056516 46057567 + AP001476.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226116 chrY 17912699 17921630 - USP9YP6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226117 chr17 39839369 39839524 - AC090844.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226118 chr13 22113119 22113338 - MTND3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226119 chrX 102006883 102007294 + Z80107.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226121 chr2 161500885 161507705 - AHCTF1P1 processed_pseudogene 477 399 465 141 212 268 254 177 174 ENSG00000226122 chr7 50531759 50543463 + DDC-AS1 antisense 100129427 0 0 0 0 0 0 0 0 0 ENSG00000226124 chr2 199760544 199851173 - FTCDNL1 protein_coding 348751 GO:0016740, GO:0005542, transferase activity, folic acid binding, 0 2 2 3 2 7 2 0 0 ENSG00000226125 chr2 230690921 230700529 - LINC01907 lincRNA 151475 0 0 1 0 0 0 0 1 1 ENSG00000226126 chr1 118614333 118615646 - PSMC1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226128 chr1 97585862 97586294 + RPL26P9 processed_pseudogene 0 0 0 4 0 0 1 1 0 ENSG00000226130 chr17 14725729 14729686 + AC013248.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226131 chr2 173485865 173486362 - PPIAP66 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000226132 chr14 53612724 53613405 + RPS3AP46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226133 chr1 48050659 48091736 + AL356289.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226134 chr13 97675011 97677963 - AL359502.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226137 chr17 81029130 81034881 - BAIAP2-DT lincRNA 440465 108 150 101 8 67 28 9 68 27 ENSG00000226138 chr12 48085062 48085421 + AC004801.1 processed_pseudogene 0 1 1 0 0 3 0 0 0 ENSG00000226140 chr10 16278701 16295858 + AL355339.1 lincRNA 102724039 0 0 0 0 0 0 0 0 0 ENSG00000226141 chrX 154654546 154655325 + AC244107.1 unprocessed_pseudogene 0 0 0 0 0 5 0 0 0 ENSG00000226142 chr22 49213911 49214247 - RPL35P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226143 chr20 43549389 43550949 - Z98752.1 antisense 2 5 3 8 5 5 6 6 2 ENSG00000226144 chr20 37049254 37049707 + RPS27AP3 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000226145 chr17 16817983 16822579 - KRT16P6 transcribed_unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000226147 chr1 52994726 52996026 + TUBBP10 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000226148 chr1 202796030 202797094 + SLC25A39P1 processed_pseudogene 1 3 3 1 5 0 4 3 0 ENSG00000226149 chr6 129526626 129552587 - AL356124.1 lincRNA 1 0 1 0 0 0 0 0 0 ENSG00000226153 chrX 17705339 17705691 - Z93242.1 processed_pseudogene 2 4 0 1 0 0 0 1 0 ENSG00000226155 chr3 195912049 195913986 + AC124944.1 antisense 1 3 8 3 3 6 1 3 10 ENSG00000226156 chr17 14947741 14948198 - RPL23AP76 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226157 chr11 5092676 5093611 + OR52E3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226158 chr13 114306646 114307066 + CLCP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226159 chr10 89915489 89957373 - LINC01375 lincRNA 101926924 0 0 0 0 0 0 0 0 0 ENSG00000226160 chr22 16405330 16405417 + AC137499.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226161 chr13 36938400 36939494 - EIF4A1P5 processed_pseudogene 0 1 0 0 0 0 0 1 0 ENSG00000226163 chr10 72501746 72502956 + AL513185.1 antisense 2 0 1 0 0 0 0 0 0 ENSG00000226164 chr1 247119669 247120278 + FGFR3P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226166 chr1 12692909 12693020 + AC244670.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226167 chr1 113856635 113901237 + AP4B1-AS1 antisense 100287722 37 46 60 49 43 58 51 31 58 ENSG00000226168 chr10 50695592 50695981 + AL589794.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226169 chr22 27716480 27721677 + AL121885.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226172 chr1 119000344 119001392 - AL139420.1 lincRNA 105378933 0 0 0 0 0 0 0 0 0 ENSG00000226174 chr14 105398579 105450106 + TEX22 protein_coding 647310 GO:0001669, acrosomal vesicle, 5 6 14 2 1 4 8 4 3 ENSG00000226179 chrX 320990 321851 + LINC00685 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226180 chr16 87693537 87696147 - AC010536.1 lincRNA 100129215 0 1 0 6 0 11 5 0 0 ENSG00000226181 chr6 117451130 117453525 - AL132671.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226183 chr3 22904135 22905151 + RANP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226185 chr2 95514827 95520107 + TRIM64FP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226186 chr2 70955899 70956234 - ELOCP21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226188 chr20 45745737 45746287 - HNRNPA1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226191 chr1 247936061 247937513 - CLK3P2 processed_pseudogene 2 0 0 0 2 0 0 0 3 ENSG00000226193 chr6 152402398 152404966 + AL049548.1 antisense 1 0 1 0 0 0 0 0 0 ENSG00000226194 chr6 169369998 169388385 - LINC02519 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226196 chr1 189132350 189133292 - GAPDHP75 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226197 chr9 13446491 13487511 + AL583785.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226199 chrX 27832175 27833204 + AC112492.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226200 chr10 50624951 50641451 + SGMS1-AS1 antisense 74 54 73 69 66 48 40 30 51 ENSG00000226203 chr20 25955812 25969288 + LINC01733 lincRNA 101926955 0 0 0 0 0 0 0 0 0 ENSG00000226204 chr21 18953264 18967058 - AL157359.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226205 chr7 133732493 133733595 - AC007790.1 processed_pseudogene 0 1 2 0 0 0 0 0 0 ENSG00000226206 chr9 89799695 89821753 + BX470209.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226207 chr6 97710953 97717197 - AL080316.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226208 chr1 70715933 70720289 - AL513285.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226209 chr10 13308145 13308447 - C8orf59P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226210 chr12 14522 32015 - WASH8P unprocessed_pseudogene 100288778 44 23 46 43 66 41 59 60 53 ENSG00000226211 chr1 221133865 221134221 - AL445466.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226212 chr7 38340700 38340998 - TRGV6 TR_V_pseudogene 0 1 0 0 0 5 0 0 0 ENSG00000226213 chr2 152876820 152877767 + UBQLN4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226216 chr3 29390848 29391218 + RPS12P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226217 chr20 2780614 2781041 + RPL19P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226218 chr2 145600907 145603423 - AC079163.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226220 chr7 39796593 39797911 - CICP22 processed_pseudogene 1 0 1 2 3 1 1 6 8 ENSG00000226221 chr5 56504635 56505072 - RPL26P19 processed_pseudogene 5 3 7 22 17 23 19 9 23 ENSG00000226222 chrX 24632257 24632601 + AC079168.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226223 chrY 9640249 9640716 - TSPY16P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226226 chr1 220467954 220468808 + PRELID3BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226229 chr20 16586333 16586693 - RPLP0P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226230 chr7 78486530 78487028 + AC007237.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226232 chr16 69976388 69996188 - NPIPB14P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226233 chr22 37215738 37215891 - Z82188.1 processed_pseudogene 1 5 4 1 16 2 0 1 16 ENSG00000226234 chr9 79036413 79037568 - KRT18P24 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000226235 chr1 205373252 205387440 + LEMD1-AS1 antisense 284576 0 0 0 0 0 0 0 0 0 ENSG00000226237 chr9 86948699 87002033 + GAS1RR lincRNA 100506834 0 0 0 0 0 0 0 0 0 ENSG00000226238 chr3 17990023 17995544 + AC132807.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226239 chr20 32027753 32031575 - AL031658.1 antisense 7 4 34 2 0 1 6 0 0 ENSG00000226240 chr13 74419158 74444735 + LINC00381 lincRNA 100874151 0 0 0 0 0 1 6 3 0 ENSG00000226241 chrX 103087198 103089277 + Z75746.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226242 chr2 192774082 192774416 + RPS17P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226243 chr20 44466564 44466842 - RPL37AP1 processed_pseudogene 2 1 2 6 1 7 1 0 2 ENSG00000226245 chr10 43643872 43645047 + ZNF32-AS1 antisense 414197 0 1 4 8 1 10 0 1 2 ENSG00000226246 chr9 30799471 30800746 - KRT18P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226247 chr2 75651288 75651627 - SUPT4H1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226249 chr6 147741434 147743324 - AL365271.1 lincRNA 105378044 0 0 0 0 0 0 0 0 0 ENSG00000226250 chr13 18905439 18907810 + LINC00408 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226251 chr1 212225278 212238977 - AL451060.1 lincRNA 101929541 0 0 0 0 0 0 1 0 0 ENSG00000226252 chr1 47225797 47230750 + AL135960.1 antisense 1 0 0 5 0 0 0 0 0 ENSG00000226253 chr10 74527584 74527947 + MRPL35P3 processed_pseudogene 1 0 0 0 1 0 0 0 2 ENSG00000226254 chr7 91107374 91107793 + PTP4A1P3 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000226255 chr10 19051455 19052170 + UBE2V2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226258 chr3 6631689 6805449 - GRM7-AS3 lincRNA 101927347 0 0 0 0 0 0 0 0 0 ENSG00000226259 chr5 70415352 70448015 + GTF2H2B transcribed_unprocessed_pseudogene 0 22 71 0 17 111 0 21 50 ENSG00000226261 chr2 202336024 202336727 - AC064836.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226262 chr20 8097824 8099774 - PHKBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226263 chr20 13237801 13239674 - ISM1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226266 chr2 159670708 159712435 - AC009961.1 lincRNA This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]. 29994 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0006357, GO:0006338, regulation of transcription by RNA polymerase II, chromatin remodeling, 32 17 45 18 20 21 9 16 19 ENSG00000226268 chr11 49433480 49434438 - AC135977.1 processed_pseudogene 4 2 3 3 1 1 3 1 4 ENSG00000226270 chrY 24683657 24684935 + ZNF736P2Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226272 chr5 142859604 142868922 - ARHGAP26-AS1 antisense 100874239 6 19 10 17 22 16 23 13 15 ENSG00000226273 chr2 177177695 177178255 + AC079305.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226276 chr2 215939308 215941719 - AC093382.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226277 chr2 421057 422303 + AC105393.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226278 chr7 55764797 55773288 + PSPHP1 unprocessed_pseudogene 13 7 0 13 23 0 2 32 0 ENSG00000226279 chr7 22881893 22882390 + RPL12P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226280 chrX 67373573 67375520 + AL049641.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226281 chr6 6692744 6739030 - AL031123.1 lincRNA 8 17 17 1 11 1 6 10 16 ENSG00000226284 chr20 49134480 49135012 + ARPC3P1 processed_pseudogene 6 10 7 10 7 15 8 3 7 ENSG00000226285 chr7 79543911 79544853 - NUP35P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226286 chr1 3132927 3133709 - AL008733.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226287 chr22 20701114 20704606 + TMEM191A transcribed_unprocessed_pseudogene 84222 GO:0016021, integral component of membrane, 4 11 9 15 23 14 7 6 21 ENSG00000226288 chr11 4581743 4593340 + OR52I2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 143502 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 5 0 0 0 0 0 1 ENSG00000226289 chr1 207658454 207659142 + CDCA4P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226291 chr7 1080863 1082178 + AC091729.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226292 chr1 166022215 166023027 + AL606495.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226296 chr10 53291072 53311065 - AC036101.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226297 chr2 229003886 229004400 + AC007677.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226298 chr21 15694300 15696581 - RAD23BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226299 chrX 53322990 53323822 + RPSAP62 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226301 chr8 60387262 60387995 + PDCL3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226302 chr3 40603125 40605427 - AC122683.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226304 chr10 25924448 25933710 - AL358612.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226306 chr5 137801193 137810751 + NPY6R transcribed_processed_pseudogene 4888 GO:0016021, integral component of membrane, GO:0004983, GO:0001602, neuropeptide Y receptor activity, pancreatic polypeptide receptor activity, GO:0007218, GO:0007186, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000226307 chrX 95638375 95638924 + HNRNPDLP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226308 chr20 57266797 57282998 + AL122058.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226309 chr6 84429584 84430802 - SMARCE1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226310 chrX 57121662 57127243 + AL022157.1 antisense 0 0 0 0 0 0 0 0 6 ENSG00000226312 chr2 201140278 201157823 - CFLAR-AS1 antisense 65072 861 851 1137 509 806 717 760 679 760 ENSG00000226313 chrX 5169512 5170645 + MTCYBP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226314 chr6 28161769 28169594 + ZNF192P1 transcribed_unprocessed_pseudogene 651302 0 0 1 1 0 1 0 0 0 ENSG00000226317 chr13 85363601 85544570 + LINC00351 lincRNA 100874137 0 0 0 0 0 0 0 0 0 ENSG00000226318 chr10 67960702 67961464 - RPS3AP38 processed_pseudogene 3 6 4 4 6 2 9 2 11 ENSG00000226320 chr3 34159334 34562877 + LINC01811 lincRNA 101928114 0 0 0 0 0 0 0 0 0 ENSG00000226321 chr2 240906330 240993311 + CROCC2 protein_coding 728763 3 8 7 11 8 0 7 6 2 ENSG00000226323 chr7 14814131 14816565 + AC006150.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226324 chr1 71367054 71367303 - AL358453.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226327 chr9 88324454 88325339 + RPSAP49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226328 chr22 45133020 45163781 - NUP50-DT lincRNA 100506714 219 209 153 159 306 221 227 205 163 ENSG00000226329 chr7 22863874 22881350 - AC005682.1 unprocessed_pseudogene 1 0 7 5 1 2 6 0 5 ENSG00000226330 chr1 204377850 204435846 + AL606489.1 antisense 0 1 2 2 0 0 3 0 5 ENSG00000226331 chr2 222044525 222044994 - RPL23AP28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226332 chr20 62305432 62306325 - AL354836.1 antisense 74 72 77 76 63 45 55 53 43 ENSG00000226334 chr9 104927553 104928892 + AL359182.1 antisense 4 3 7 0 1 0 3 7 3 ENSG00000226336 chr22 35703803 35704176 + MRPS16P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226337 chr9 68541036 68644442 + AL353616.2 lincRNA 33 30 20 9 29 10 26 28 12 ENSG00000226338 chr2 153208086 153208163 - AC079150.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226339 chrX 129408382 129408621 + RPS26P56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226340 chr2 148872253 148872797 - AC105402.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000226341 chr2 116751158 116751648 + MTCYBP39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226342 chr7 63908966 63910453 - NMD3P1 processed_pseudogene 0 2 1 0 0 0 0 2 0 ENSG00000226344 chr20 23475700 23479798 + CST12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226345 chr3 196423322 196423522 + AC083822.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226348 chr16 77220406 77221258 + VN2R10P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226349 chr1 225710968 225736274 - AC099066.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000226352 chr13 19674624 19675884 + PSPC1-AS2 antisense 28 16 28 32 29 24 18 19 10 ENSG00000226353 chrY 17628513 17629402 + TAF9P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226355 chr9 129438216 129439118 + AL353803.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226356 chr12 131292068 131293176 - RPS6P20 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226358 chr10 88727485 88728914 + KRT8P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226359 chr17 17242010 17242886 + ACTG1P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226360 chr3 61742455 61743106 - RPL10AP6 processed_pseudogene 1 2 0 17 2 24 9 3 4 ENSG00000226361 chr13 18680494 18681700 + TERF1P5 processed_pseudogene 1 4 4 3 2 4 1 2 6 ENSG00000226362 chrY 18390994 18405046 - FAM41AY2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226363 chr2 176177717 176179008 + HAGLROS lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226364 chr17 52862121 52899588 + LINC02089 lincRNA 105371831 0 0 0 0 0 0 0 0 0 ENSG00000226366 chr2 51926882 51927362 - AC097463.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226367 chr7 117072072 117146480 - ST7-AS2 antisense 93654 0 0 0 7 1 0 4 1 2 ENSG00000226369 chrY 23934953 23940101 + USP9YP11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226370 chr13 85065087 85078920 - LINC00375 lincRNA 104355140 0 0 0 0 0 0 0 0 0 ENSG00000226372 chrX 27977993 27981449 - DCAF8L1 protein_coding This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate the formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 1. However, the CDS of this intronless gene remains intact, it is conserved in other primate species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]. 139425 GO:0080008, GO:0005737, Cul4-RING E3 ubiquitin ligase complex, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000226374 chr1 3944547 3948980 - LINC01345 lincRNA 105376672 0 0 0 0 0 0 0 0 0 ENSG00000226375 chr1 173174300 173175503 - AL022310.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000226376 chr9 7930827 7935137 - AL135923.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226377 chr17 32876759 32878637 + AC084809.1 antisense 0 0 0 0 1 2 0 0 0 ENSG00000226380 chr7 130876809 130913310 - LINC-PINT lincRNA 235 208 195 506 526 412 550 302 352 ENSG00000226383 chr2 156011530 156254950 - LINC01876 lincRNA 101929378 0 1 6 1 0 4 5 0 2 ENSG00000226386 chr10 34815767 34816386 + PARD3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226387 chr10 104664608 104666200 - SORCS3-AS1 antisense 100505890 0 0 0 0 0 0 0 0 0 ENSG00000226388 chrX 146553728 146555765 + ELL2P4 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000226389 chr10 49771841 49773299 + MAPK6P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226390 chr20 63448051 63449329 + AL353658.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226392 chr7 67627831 67628019 + MTATP6P21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226393 chr9 21321300 21321827 + IFNA20P unprocessed_pseudogene 0 0 3 4 2 0 0 0 0 ENSG00000226394 chr1 89661212 89661353 - AC093423.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226395 chr10 28004702 28004932 + MRPS21P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226396 chr1 19608114 19608568 + AL031727.1 processed_pseudogene 3 6 8 17 14 36 21 2 13 ENSG00000226397 chr12 24993424 25006403 - C12orf77 lincRNA 196415 0 0 0 0 2 0 0 0 0 ENSG00000226398 chr2 42015625 42025302 - AC013480.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226400 chr5 28927029 28927284 + AC010385.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226401 chr7 63632608 63636617 + AC006015.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226403 chr9 547317 549531 + AL392089.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000226405 chr20 21488244 21488625 - AL133325.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226406 chr21 14829154 14829989 - RBMX2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226407 chr10 33864313 33864723 + RPL23P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226409 chr6 125370034 125445183 - AL450332.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226410 chr2 186162949 186163245 - AC104058.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000226411 chr7 63699390 63700441 + AC079355.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226412 chr10 33578931 33600040 - AC018980.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226413 chr12 48442030 48442947 - OR8T1P unprocessed_pseudogene 0 0 0 0 0 7 0 5 8 ENSG00000226414 chrX 126729104 126730226 + MTCYBP38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226415 chr1 76699789 76700538 + TPI1P1 processed_pseudogene 22 30 18 7 19 11 20 18 7 ENSG00000226416 chr11 1983237 1989920 - MRPL23-AS1 antisense 100133545 1 0 1 1 0 0 0 4 0 ENSG00000226419 chr1 112956415 113047055 + SLC16A1-AS1 antisense 100506392 1 4 6 8 9 16 6 3 10 ENSG00000226420 chr22 22858025 22858268 + IGLV3-4 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226421 chr7 32471513 32472409 + SLC25A5P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226423 chr2 242025183 242026176 - AC093642.1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000226425 chr10 93059663 93060426 - AL358613.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226426 chr10 64036345 64037280 - AC012558.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226427 chr3 15375373 15375645 - HMGN2P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226428 chr10 114900722 114901366 + RPL15P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226429 chr9 62395370 62395678 - AL590399.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226430 chr8 12132417 12134438 - USP17L7 protein_coding 392197 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000226431 chr10 103549075 103550964 + AL121929.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000226432 chr5 24170370 24171246 + AC010342.1 processed_pseudogene 3 1 0 4 0 1 0 0 0 ENSG00000226433 chr21 33156632 33159110 + AP000290.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226435 chr3 198053522 198080720 - ANKRD18DP transcribed_unprocessed_pseudogene 348840 1 1 0 0 0 0 0 0 0 ENSG00000226436 chrX 28659065 28659469 - AC002367.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226438 chr1 39249838 39257649 - AL442071.1 antisense 2 5 5 5 1 12 2 1 1 ENSG00000226439 chr4 61775449 61775850 - AC108161.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226440 chr6 112236093 112307009 + AL365214.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226441 chr3 17042742 17044192 - PLCL2-AS1 antisense 42 15 58 29 27 23 28 24 24 ENSG00000226442 chr2 234109081 234109481 + AC006037.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226443 chr1 119533749 119534746 - GAPDHP32 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000226444 chr22 11124337 11125705 + ACTR3BP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226445 chr6 169213254 169239565 + BX322234.1 antisense 0 0 0 2 0 0 0 0 1 ENSG00000226446 chr1 119886304 119886927 + NOTCH2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226447 chr10 37976825 37992467 + AL117337.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226448 chr10 67334123 67334882 + RPL7AP51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226449 chrY 17721598 17723177 + CDY5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226450 chr22 42149886 42155001 - CYP2D8P unprocessed_pseudogene 4 7 7 0 2 4 2 10 0 ENSG00000226453 chr6 81845185 81933480 - LINC02542 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226454 chr6 40505507 40523963 - AL033380.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000226455 chr6 89950116 89953186 + AL121787.1 antisense 1 6 8 7 2 6 8 2 2 ENSG00000226457 chr1 16369150 16369530 - RPL22P3 processed_pseudogene 0 2 0 0 7 0 1 0 0 ENSG00000226461 chr11 124009655 124010012 + OR10G5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226465 chr20 25697003 25752761 + AL390198.1 processed_transcript 0 0 0 0 0 0 5 0 0 ENSG00000226466 chr10 81136540 81137335 - RPA2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226468 chr7 32456963 32457758 - AC018641.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226469 chr12 111927018 111929017 + ADAM1B unitary_pseudogene 0 0 0 4 0 3 3 0 2 ENSG00000226470 chr9 17096301 17096446 - RPS29P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226471 chr22 28800683 28848559 + Z93930.2 antisense 1 1 1 10 5 4 4 0 2 ENSG00000226472 chr12 30978308 31006010 - AC008013.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226473 chr2 47939738 47940218 - PPIAP62 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226474 chr22 15615402 15615578 - AP000532.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226476 chr1 60515716 60640491 - LINC01748 lincRNA 105378763 0 0 0 4 0 0 0 0 0 ENSG00000226477 chr22 22814671 22814926 + AC245028.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226478 chr17 16745636 16746761 - UPF3AP1 processed_pseudogene 1 2 1 2 0 0 0 3 0 ENSG00000226479 chr2 120221278 120223408 - TMEM185B protein_coding 79134 GO:0016021, integral component of membrane, 216 213 343 238 327 316 206 221 264 ENSG00000226480 chr19 9278448 9279369 - OR7H1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226481 chr2 91940668 91942040 + ACTR3BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226482 chr3 186851886 186856123 - ADIPOQ-AS1 antisense 100874095 0 0 0 0 0 0 0 0 0 ENSG00000226483 chr1 108508574 108509243 + AL392088.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226484 chrX 36365626 36440292 - AL606516.1 antisense 101928627 0 0 0 0 0 0 0 0 0 ENSG00000226485 chr7 56490682 56491635 + RBM22P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226486 chr1 188905688 189037262 + LINC01035 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226487 chr1 20412304 20413253 - AL139254.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226488 chr2 6496003 6503806 + LINC01824 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226489 chr3 35871866 35872198 + AC104308.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226490 chr8 141514638 141518737 + AC138647.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000226491 chr2 42797225 42798712 - FTOP1 processed_pseudogene 6 8 8 5 6 6 3 14 0 ENSG00000226493 chr10 68499532 68499968 + RPL26P27 processed_pseudogene 1 8 0 0 2 3 0 5 0 ENSG00000226496 chr21 41141493 41148133 - LINC00323 antisense 284835 0 0 0 0 0 0 0 0 0 ENSG00000226497 chr6 68226972 68329899 - LINC02549 lincRNA 101928280 0 0 0 0 0 0 0 0 0 ENSG00000226498 chr1 236819634 236820518 + RPSAP21 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226499 chr1 44843921 44844082 - AL136380.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226500 chr1 149754301 149754710 - AC243772.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226501 chr21 33334571 33335096 + USF1P1 processed_pseudogene 2 11 2 0 3 5 0 0 1 ENSG00000226502 chrX 64623117 64624573 + KRT8P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226504 chrY 20907344 20907562 - TMEM167AP1 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000226506 chr2 7886770 7899655 - AC007463.1 lincRNA 101929551 0 0 0 0 0 0 0 0 0 ENSG00000226507 chr13 22837026 22837880 - IPMKP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226508 chr2 105144113 105145424 + LINC01918 lincRNA 105373984 0 0 1 0 0 0 0 0 2 ENSG00000226509 chr7 153968665 153968826 - AC005588.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226510 chr19 35667948 35673291 - UPK1A-AS1 antisense 100862728 0 0 0 0 0 0 0 0 0 ENSG00000226515 chrX 74342713 74342860 - AC004386.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226516 chr2 113577382 113578852 + FAM138B lincRNA 654412 0 0 0 0 0 0 0 0 0 ENSG00000226519 chr13 44106378 44137236 - LINC00390 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226520 chr1 158025550 158031166 + KIRREL1-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000226521 chr17 20716481 20737127 + AC087499.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226522 chr7 18892096 18899433 - AC004994.1 antisense 0 0 0 4 0 0 0 0 0 ENSG00000226523 chr2 42680088 42680279 - AC074375.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226525 chr13 21628413 21629015 - RPS7P10 processed_pseudogene 6 2 3 11 6 6 2 8 8 ENSG00000226526 chr1 16978926 17005091 + AL049569.1 antisense 1 0 1 2 5 3 2 2 0 ENSG00000226527 chr21 33111699 33123703 - AP000289.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226529 chrY 8371663 8372030 + MTND1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226530 chrX 51396511 51465661 + AL158055.1 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000226532 chrX 124326175 124326258 - AL022718.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226533 chr6 38481692 38482531 + BTBD9-AS1 antisense 2 1 0 0 0 0 2 0 0 ENSG00000226534 chr22 21370064 21371945 + AP000552.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226535 chr9 107169569 107171148 - AL445487.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226536 chrX 15917548 15918631 + SETP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226537 chr13 67910986 67911951 + OR7E33P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226539 chr2 223704621 223705338 + AC012512.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226540 chr6 135619165 135620171 - GAPDHP73 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226541 chr6 46438310 46438619 + AL359633.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226542 chr2 235084822 235088586 - AC114814.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226543 chr21 43855890 43856342 - MYL6P1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000226544 chr5 72725419 72726151 + RPL7P22 processed_pseudogene 1 1 2 0 1 0 0 0 0 ENSG00000226545 chr1 8798475 8799506 + AL357552.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226547 chrX 114390674 114391256 + SSU72P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226548 chr2 46852020 46853496 - AC016722.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226549 chr17 20784645 20785725 + SCDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226552 chr1 171083565 171085205 + BX284613.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226553 chr2 187001876 187003377 - AC018735.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000226554 chr13 70923664 70924455 + MTCL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226555 chrY 14639096 14640358 + AGKP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226556 chrX 47438736 47439774 - NPM1P49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226557 chr10 59136625 59138182 - TRAF6P1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000226558 chr6 43364220 43364294 + AL590383.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000226562 chr9 33580695 33605293 + CYP4F26P lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226564 chr2 180872867 180873414 - FTH1P20 processed_pseudogene 18 32 35 24 24 22 15 46 30 ENSG00000226565 chr1 207150205 207150281 - AL445493.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226566 chr9 103361952 103429892 - AL390962.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226567 chr3 10759484 10764192 - LINC00606 lincRNA 285370 0 0 0 0 0 0 0 0 0 ENSG00000226570 chr1 182955390 182956148 - AL450304.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000226571 chr6 139271362 139667284 + AL592429.2 antisense 0 0 0 1 0 0 5 0 2 ENSG00000226572 chr20 2656939 2657010 + SNORD57 snoRNA 26792 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000226573 chr22 30105094 30105408 - AC003071.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226576 chr10 48984564 49018897 + AC060234.1 antisense 0 1 2 0 0 0 2 1 1 ENSG00000226577 chr6 30414715 30419319 + MICC unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226578 chr10 37775371 37784131 - AL132657.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000226579 chrX 70120353 70121474 - MTCYBP31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226580 chr21 17500679 17500824 - RPL39P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226581 chr7 63900823 63917994 + AC092634.3 lincRNA 0 0 0 0 3 0 1 0 0 ENSG00000226582 chr10 114117147 114117551 + UBE2V1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226587 chr7 63326674 63354326 - AC006455.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226590 chr9 85159682 85159950 + UBE2V1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226592 chr7 145269514 145270384 + AC004911.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226594 chr6 47729827 47740741 - AL356421.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226595 chr22 22465659 22465986 + AC245291.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226597 chr9 21190654 21191244 - IFNWP9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226599 chr6 150650772 150652025 - AL450344.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000226600 chrX 120943561 120946883 - CT47A9 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. 728042 0 0 0 0 0 0 0 0 0 ENSG00000226601 chr1 223181144 223188154 + AL359979.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226604 chr9 116285829 116288769 - PAPPA-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226605 chr2 62826064 62858438 - AC092567.1 antisense 7 2 5 7 5 2 6 1 0 ENSG00000226608 chr20 4023917 4024444 + FTLP3 processed_pseudogene 16 10 16 38 30 43 44 26 33 ENSG00000226609 chr9 112748902 112750456 - AL390067.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000226611 chrY 18080681 18096202 - OFD1P2Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226616 chr11 4514966 4515924 - OR52M2P unprocessed_pseudogene 0 0 0 2 0 1 3 0 3 ENSG00000226617 chr13 72703693 72704138 + RPL21P110 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226619 chr13 19027837 19028701 + AL137001.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226620 chr13 105704280 105764440 + LINC00343 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000226621 chr3 11290406 11290663 - AC083855.1 processed_pseudogene 2 0 0 0 1 0 0 0 0 ENSG00000226622 chr2 62590255 62662654 - AC092155.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226624 chr7 105819492 105820101 + AC005099.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000226625 chr9 39154075 39155479 + RBM17P1 processed_pseudogene 15 17 7 13 28 20 24 13 14 ENSG00000226626 chr9 23681894 23682662 + NOP56P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226627 chr11 70631094 70635490 + SHANK2-AS1 antisense 100874198 0 0 0 0 0 0 0 0 0 ENSG00000226629 chr17 41549606 41554495 - LINC00974 lincRNA 147093 0 0 0 0 0 0 0 0 0 ENSG00000226631 chr10 50025135 50027363 - SLC9A3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226632 chr20 3361880 3362324 - UBE2V1P1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000226633 chr13 20178978 20179462 - PPIAP28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226636 chr7 122159300 122162243 + AC006020.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226640 chr1 193678894 193727035 + AL357793.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000226641 chrX 41322601 41323111 - AL391647.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226642 chr3 12070195 12071360 + ACTG1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226643 chr1 222452738 222454705 - AL513314.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226644 chr20 2207217 2213151 + AL121899.1 lincRNA 9 10 77 85 58 521 98 82 422 ENSG00000226645 chr11 116773389 116774205 + AP006216.1 antisense 0 0 0 1 0 0 0 0 2 ENSG00000226646 chr10 35697300 35698037 + RPL7P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226647 chr10 5712174 5744067 - AL365356.1 antisense 14 16 6 8 11 8 4 1 8 ENSG00000226648 chr20 41098329 41138003 - PLCG1-AS1 antisense 400 331 646 161 131 235 174 155 106 ENSG00000226649 chr2 3156756 3157797 + AC019118.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000226650 chr5 155013755 155018132 + KIF4B protein_coding This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis. [provided by RefSeq, Jul 2016]. 285643 GO:0016363, GO:0005874, GO:0005829, GO:0005654, nuclear matrix, microtubule, cytosol, nucleoplasm, GO:0051536, GO:0046872, GO:0008017, GO:0005524, GO:0003777, GO:0003677, iron-sulfur cluster binding, metal ion binding, microtubule binding, ATP binding, microtubule motor activity, DNA binding, GO:0051256, GO:0019886, GO:0007052, GO:0007018, GO:0006890, GO:0000281, mitotic spindle midzone assembly, antigen processing and presentation of exogenous peptide antigen via MHC class II, mitotic spindle organization, microtubule-based movement, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, mitotic cytokinesis, 0 0 0 0 0 2 0 0 0 ENSG00000226652 chr3 186760693 186762050 + PSMD10P2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226653 chr1 147419053 147419900 + OR13Z1P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226655 chr4 123744923 123745673 - AC096732.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226658 chr2 201066691 201067191 + RPL23AP30 processed_pseudogene 1 1 1 0 0 4 2 0 2 ENSG00000226659 chr10 80529597 80535942 - AC021028.1 antisense 101929574 4 5 2 10 2 0 5 2 5 ENSG00000226660 chr7 142300924 142301432 + TRBV2 TR_V_gene 7 7 8 14 7 13 12 2 15 ENSG00000226661 chrX 119356301 119393595 - AC004973.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226662 chr1 27686810 27687471 - CHMP1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226663 chr1 235540053 235541415 - MTND4P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226664 chr1 20294211 20323187 - AL020998.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226665 chr13 75136154 75136940 + SSR1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226666 chr2 221961737 221963765 + HSPA9P1 processed_pseudogene 0 1 1 2 3 2 4 1 3 ENSG00000226668 chr9 92882567 92899608 + AL136981.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226669 chr9 3684076 3689626 - AL354977.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226670 chr13 79166119 79166885 + BCAS2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226671 chr7 81191398 81192009 + AC005008.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226673 chr6 14280127 14285454 - LINC01108 lincRNA 102216342 0 0 0 0 0 0 0 0 0 ENSG00000226674 chr2 144667967 145262988 + TEX41 lincRNA 401014 1 0 0 2 0 0 2 0 0 ENSG00000226676 chr10 79628757 79632188 - BX248123.1 lincRNA 105378385 0 0 0 0 0 0 0 1 0 ENSG00000226677 chr14 34939324 34940332 + IGBP1P1 processed_pseudogene 0 2 4 7 3 0 1 1 0 ENSG00000226679 chrX 38221391 38223667 + AL606748.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226680 chr7 123069249 123103589 - AC073311.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226681 chr2 181422154 181425749 - AC020595.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000226683 chr13 80654755 80657027 + PWWP2AP1 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000226685 chrX 120930250 120932301 - CT47A12 protein_coding 100507170 0 0 0 0 0 0 0 0 0 ENSG00000226686 chr19 37251912 37265535 + LINC01535 lincRNA 101927667 0 0 0 0 0 0 1 0 0 ENSG00000226688 chr10 95753206 96090238 - ENTPD1-AS1 antisense 728558 597 559 559 373 536 373 451 390 317 ENSG00000226690 chr7 12469621 12542222 + AC013470.2 protein_coding 102725191 0 0 0 0 0 0 0 0 0 ENSG00000226693 chr1 218881600 218882650 - NXNP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226694 chr10 2071845 2081097 + AL441943.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226695 chr13 24750657 24752171 - ANKRD20A10P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226696 chr19 54444813 54449045 - LENG8-AS1 antisense 104355426 0 3 1 0 2 1 0 1 2 ENSG00000226698 chr1 26876133 26878245 + AL034380.1 antisense 8 10 7 6 11 16 17 13 19 ENSG00000226699 chr10 133345754 133350726 - AL360181.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000226700 chr2 82814984 82815516 + MTND4P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226701 chr10 72189941 72190576 + RPL15P14 processed_pseudogene 0 0 2 0 0 0 0 0 4 ENSG00000226702 chr2 55963191 56047326 - MIR217HG lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226703 chr13 27696393 27697204 - NPM1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226705 chr10 6293100 6294684 - SDCBPP1 processed_pseudogene 0 0 2 0 4 0 10 2 5 ENSG00000226706 chr9 135503273 135506447 - AL161452.1 antisense 101928525 6 7 8 18 1 3 0 0 8 ENSG00000226707 chr6 49823712 49824782 - AL359458.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226708 chr2 123443266 123444445 - AC073409.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226709 chr3 192516831 192521398 + FGF12-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226711 chr12 8180209 8216151 + FAM66C antisense 2 2 11 2 6 9 4 5 10 ENSG00000226715 chr1 101639548 101787572 + LINC01709 lincRNA 0 1 0 4 0 4 0 3 1 ENSG00000226716 chr1 152122534 152125065 + AL589986.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226717 chr9 10613202 10620420 + PTPRD-AS2 lincRNA 101929428 0 0 0 0 0 0 0 0 0 ENSG00000226718 chr2 227778510 227778735 - SNRPGP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226721 chr9 92836826 92837668 - EEF1DP2 processed_pseudogene 3 1 2 3 4 7 1 5 0 ENSG00000226722 chr13 21872770 21878160 - LINC00424 lincRNA 100874182 0 0 0 0 0 0 0 0 0 ENSG00000226723 chr1 192246708 192247487 - AL513175.1 processed_pseudogene 0 0 0 1 0 0 1 0 0 ENSG00000226724 chr3 186698520 186708574 + AC109780.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226725 chrX 72998388 73002856 - PABPC1L2B-AS1 antisense 101928345 0 0 0 0 0 0 0 0 0 ENSG00000226726 chr2 221532668 221533008 + TMEM256P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226729 chr12 119959424 119959754 + RPL35AP30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226733 chr6 50093610 50181007 + AL138826.1 lincRNA 100505985 0 0 0 0 0 0 0 0 0 ENSG00000226734 chr10 110139214 110139426 - SNRPGP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226739 chr6 164346489 164348644 - AL358972.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000226741 chr22 27310651 27317456 + LINC02554 lincRNA 100507657 0 0 0 0 0 0 0 0 0 ENSG00000226742 chr18 79964561 79970822 + HSBP1L1 protein_coding 440498 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005515, GO:0003714, protein binding, transcription corepressor activity, GO:1903507, GO:0070370, negative regulation of nucleic acid-templated transcription, cellular heat acclimation, 17 26 24 39 39 43 25 15 13 ENSG00000226744 chr7 97870167 97870289 + AC005326.1 processed_pseudogene 0 0 2 0 4 0 0 3 6 ENSG00000226745 chr1 40132764 40133448 + AL512599.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226746 chr17 17776686 17779529 - SMCR5 antisense 140771 0 1 2 0 0 0 0 1 0 ENSG00000226747 chr2 185719874 185740479 - AC007966.1 antisense 101927196 0 0 0 0 0 0 0 0 0 ENSG00000226750 chr1 242345558 242345718 + AL360271.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226751 chr21 14761710 14763090 - AF127936.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226752 chr9 120824828 120854385 + CUTALP transcribed_unitary_pseudogene 253039 993 128 138 1114 174 179 1120 127 159 ENSG00000226753 chrX 75888700 75888888 + AL451105.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226754 chr1 53238610 53242783 + AL606760.1 antisense 100507564 0 0 2 0 0 0 0 1 0 ENSG00000226755 chr1 117549415 117549922 + VPS25P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226756 chr2 64644612 64646698 + AC007365.1 lincRNA 0 1 3 7 6 22 5 4 8 ENSG00000226757 chr4 121764585 121766814 + PP12613 antisense 100192379 0 0 0 0 0 0 1 0 0 ENSG00000226758 chr1 231925834 231945233 + DISC1-IT1 sense_intronic 104472714 2 2 4 4 0 3 0 3 0 ENSG00000226759 chr1 57860532 57880905 + DAB1-AS1 antisense 101926890 0 0 0 0 0 0 0 0 0 ENSG00000226761 chr12 11061365 11062294 - TAS2R46 protein_coding TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]. 259292 GO:0060170, GO:0016021, GO:0016021, GO:0005886, ciliary membrane, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000226762 chr10 3232388 3257932 - AL451164.1 lincRNA 105376354 0 0 0 0 0 0 0 0 0 ENSG00000226763 chr19 43596617 43614497 + SRRM5 protein_coding 100170229 10 12 24 48 25 49 23 19 35 ENSG00000226764 chr2 15997049 16062885 - AC010145.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226765 chr3 168666559 168667423 + RPSAP33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226766 chr1 243624666 243625056 - FABP7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226767 chr7 65508773 65508944 - AC114501.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226769 chr20 46997596 46998488 + GAPDHP54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226770 chr7 127476883 127485804 + AC000124.1 lincRNA 100506682 0 0 0 0 0 0 0 0 0 ENSG00000226771 chr21 21223295 21226829 - AP001136.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226772 chr22 29099041 29111683 - AL021393.1 antisense 5 0 7 3 0 7 1 0 0 ENSG00000226773 chr1 92203148 92203991 + AL663109.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226774 chrX 23351013 23351450 + AC073910.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226776 chr17 41004481 41004760 - KRTAP3-4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226777 chr14 105917979 105932642 + FAM30A lincRNA 9834 0 0 0 0 1 0 1 0 3 ENSG00000226779 chr3 175234861 175271096 - NAALADL2-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226780 chr1 206117783 206126805 + AC244035.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226781 chrX 33041395 33041721 + TBCAP1 processed_pseudogene 0 1 0 1 0 0 0 2 0 ENSG00000226782 chr3 177337628 177349166 - AC117465.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226783 chr9 122685933 122688372 + TLK1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226784 chrX 77968874 77969638 - PGAM4 protein_coding This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010]. 441531 GO:0097228, GO:0070062, sperm principal piece, extracellular exosome, GO:0016787, GO:0004619, GO:0004619, GO:0004082, hydrolase activity, phosphoglycerate mutase activity, phosphoglycerate mutase activity, bisphosphoglycerate mutase activity, GO:1902093, GO:0006096, GO:0006096, positive regulation of flagellated sperm motility, glycolytic process, glycolytic process, 7 5 1 0 2 7 2 2 3 ENSG00000226789 chr2 127247258 127250082 + AC110926.1 processed_pseudogene 0 0 0 3 0 1 0 0 0 ENSG00000226790 chr10 43789249 43790387 - HNRNPA3P1 processed_pseudogene 0 0 0 1 2 0 4 1 1 ENSG00000226791 chr2 98761938 98772920 - AC109826.1 lincRNA 1 0 7 3 1 26 0 2 1 ENSG00000226792 chr13 51082119 51200252 - C13orf42 protein_coding 647166 0 0 0 0 1 0 0 0 0 ENSG00000226794 chr10 69595487 69596436 - MTND1P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226797 chr17 63381231 63414312 - AC005828.1 antisense 0 0 0 0 4 0 0 0 5 ENSG00000226798 chr9 80869758 80871295 - AL138749.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000226800 chr19 3607247 3613930 + CACTIN-AS1 antisense 404665 71 57 66 92 61 79 89 58 42 ENSG00000226801 chr9 33968071 33968518 - OSTCP8 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000226802 chrX 128440929 128441785 + AL442647.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226803 chr6 57114894 57174236 - ZNF451-AS1 antisense 33 29 35 40 31 54 33 23 34 ENSG00000226804 chr1 44150594 44151753 - AL359839.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226806 chr2 135820191 135823087 + AC011893.1 antisense 100507600 0 0 0 0 0 0 0 0 0 ENSG00000226807 chr8 141433829 141507230 - MROH5 polymorphic_pseudogene 389690 0 0 0 0 0 0 0 0 0 ENSG00000226808 chr10 43845261 43895433 + LINC00840 lincRNA 100506835 0 0 0 0 0 0 0 0 0 ENSG00000226810 chr5 54857272 54858491 + AC112198.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226812 chr20 44347552 44355185 - AL117382.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226813 chr2 126110099 126117985 - LINC01941 lincRNA 105373600 0 0 0 0 0 0 0 0 0 ENSG00000226814 chr1 192800571 192801141 + AL035407.1 processed_pseudogene 0 1 3 0 1 0 0 0 1 ENSG00000226816 chr7 23205787 23208045 + AC005082.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000226818 chr21 19244543 19246392 + SLC6A6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226819 chr2 66426735 66433470 - MEIS1-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226820 chrX 66437345 66440668 + AL592049.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226822 chr1 108040263 108076020 + AL390036.1 lincRNA 12 14 9 6 23 13 6 9 12 ENSG00000226823 chr9 33503655 33510711 - SUGT1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226824 chr7 66654538 66669855 + AC006001.2 sense_intronic 0 3 2 6 6 8 7 2 4 ENSG00000226825 chr9 107420284 107430802 - LINC01509 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226827 chr7 11257681 11258535 - NPM1P11 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000226828 chr1 243917402 244047317 + AL591885.1 lincRNA 339529 3 2 2 1 1 3 0 5 0 ENSG00000226829 chr7 68150283 68288233 - AC093655.1 lincRNA 105375341 0 0 0 0 0 0 0 0 0 ENSG00000226831 chr2 131395217 131395542 - MED15P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226833 chr2 28708953 28736205 - AC092164.1 antisense 112267877 11 13 12 4 17 12 13 7 9 ENSG00000226835 chr1 94247866 94334848 + AC097059.1 lincRNA 107985092 0 0 0 0 0 0 0 0 0 ENSG00000226836 chr8 15943127 15943532 + AC018437.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226837 chrX 98422138 98422809 + HMGB1P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226838 chr7 45816557 45821064 + AC096582.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226839 chr2 143094233 143094715 + MTND6P11 processed_pseudogene 3 6 4 1 7 6 1 2 2 ENSG00000226840 chr6 73327524 73329017 + PAICSP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226842 chr10 32281686 32282829 + AL158834.1 antisense 5 2 2 3 4 0 3 3 0 ENSG00000226843 chr1 208255290 208255376 - AL606753.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226845 chr3 40596207 40597494 - EEF1GP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226846 chr13 71015141 71168417 + LINC00348 lincRNA 100885781 0 0 0 0 0 0 0 0 0 ENSG00000226847 chr2 164213539 164214414 + PRPS1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226849 chr1 11068471 11073097 + AL109811.1 antisense 20 17 35 38 16 58 30 24 50 ENSG00000226851 chr7 112328189 112409623 - AC004112.1 antisense 0 0 1 0 3 6 6 1 0 ENSG00000226853 chr2 174487389 174488386 + AC010894.2 lincRNA 1 5 5 7 5 5 2 3 7 ENSG00000226854 chrX 75903105 75904858 + AL451105.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226855 chr1 154378207 154379089 - RPSAP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226856 chr2 118132128 118222250 - THORLNC lincRNA 100506797 0 0 0 0 2 0 0 0 0 ENSG00000226857 chr7 147146342 147146756 + DUTP3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226859 chr3 186476727 186478370 + LINC02051 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226860 chr2 82609652 82609977 + AC109638.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226861 chr10 8298897 8301667 + AL390835.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226862 chr1 202604268 202605293 + AC104463.2 antisense 4 11 7 23 24 16 33 23 23 ENSG00000226863 chrY 12537773 12544883 + SHROOM2P1 unprocessed_pseudogene 0 0 0 1 7 1 0 0 0 ENSG00000226864 chr10 121928312 121951965 + ATE1-AS1 transcribed_unitary_pseudogene 100130887 1 0 0 0 4 0 0 0 0 ENSG00000226867 chrX 52781452 52785786 - AC244505.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226868 chr1 211715928 211725402 - AC096637.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226869 chr7 104738597 104804107 - LHFPL3-AS1 processed_transcript 645591 0 0 0 0 0 0 1 0 0 ENSG00000226870 chrX 71719142 71721278 + BX276092.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226871 chr17 8318088 8318712 - AC135178.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226872 chr22 21031357 21043969 + AC002472.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226873 chrY 23674379 23675392 + CDY14P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226874 chr7 30544053 30544431 + AC005154.1 processed_pseudogene 7 4 7 3 3 12 14 7 4 ENSG00000226875 chr20 21265854 21266465 + ZNF877P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226876 chr1 246108626 246113866 + AC092801.1 antisense 0 1 0 0 0 0 2 0 0 ENSG00000226877 chr9 83817643 83837861 + AL354733.1 antisense 75 81 77 64 117 129 114 78 96 ENSG00000226878 chr2 159056005 159056859 - GSTM3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226881 chrX 50905438 50905866 + H3F3AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226883 chr1 59754747 59789182 - AL035416.1 antisense 0 0 0 1 3 3 0 0 0 ENSG00000226884 chr2 61589498 61589663 - RPS29P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226885 chr22 21268161 21268903 + E2F6P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226886 chr2 132037787 132037993 - AC093787.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226887 chr4 52722618 52751640 - ERVMER34-1 protein_coding 100288413 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000226888 chr10 59088701 59089039 - RPLP1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226889 chr1 161765325 161766227 - AL359541.1 antisense 0 0 2 0 2 0 0 0 0 ENSG00000226890 chr16 1625628 1626160 - Z97652.1 antisense 16 13 7 0 11 4 4 4 2 ENSG00000226891 chr1 64972225 65002489 - LINC01359 processed_transcript 23 49 34 51 107 60 85 73 62 ENSG00000226899 chr10 124945204 124946432 - AL731577.1 antisense 3 2 2 2 8 6 3 10 9 ENSG00000226900 chr10 132511626 132518191 - AL451069.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226902 chrX 123785009 123785451 + CHCHD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226903 chr13 111899985 111901176 + LINC00354 lincRNA 101928616 0 0 0 0 0 0 0 0 0 ENSG00000226904 chr9 68228651 68229312 + AL353608.2 antisense 2 0 1 5 5 2 3 0 3 ENSG00000226905 chr2 106963193 106963674 + AC005040.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226906 chrY 22936455 22973284 + TTTY4 lincRNA There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]. 114761 0 0 0 0 0 0 0 0 0 ENSG00000226908 chr13 21483834 21484174 - HIST1H2BPS3 processed_pseudogene 0 1 0 0 0 0 3 0 0 ENSG00000226912 chr22 26644889 26645336 - ISCA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226913 chr3 49549306 49554366 - BSN-DT lincRNA 100132677 0 0 0 0 0 0 0 0 0 ENSG00000226915 chr2 130293822 130294405 + AC068137.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226917 chr6 41502444 41519852 + LINC01276 lincRNA 103106903 0 0 0 0 0 0 0 0 0 ENSG00000226918 chrY 21311268 21318895 + AC010086.1 unprocessed_pseudogene 7 10 8 6 7 16 7 3 2 ENSG00000226919 chr1 240763382 240776044 + AL365184.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226920 chr1 229440284 229441020 - AL160004.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000226921 chr13 113878489 113883651 - LINC00454 lincRNA 100874178 0 0 0 0 0 0 0 0 0 ENSG00000226925 chr2 102172621 102182108 - IL1R1-AS1 antisense 25 27 47 20 44 24 33 18 12 ENSG00000226926 chr5 103430406 103526618 - PDZPH1P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226927 chr1 220359731 220360183 - AL451081.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226928 chr2 111295629 111296046 - RPS14P4 processed_pseudogene 0 0 0 0 1 0 3 3 2 ENSG00000226929 chrX 120933840 120937158 - CT47A11 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. 255313 0 0 0 0 0 0 0 0 0 ENSG00000226930 chr21 13443373 13489176 - GTF2IP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226933 chr3 46023296 46024156 + NRBF2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226935 chr21 28539318 28540355 + LINC00161 lincRNA 118421 0 0 0 1 0 0 3 1 3 ENSG00000226937 chr10 45002222 45076066 - CEP164P1 transcribed_processed_pseudogene 10 8 15 40 15 50 9 3 18 ENSG00000226938 chr1 53348488 53349233 - AC119428.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226939 chr2 139366165 139379147 + AC062021.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226941 chrY 22403461 22417881 + RBMY1J protein_coding This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]. 378951 GO:0016607, GO:0005575, nuclear speck, cellular_component, GO:0042802, GO:0005515, GO:0003723, GO:0003723, identical protein binding, protein binding, RNA binding, RNA binding, GO:0045292, GO:0007283, GO:0000381, mRNA cis splicing, via spliceosome, spermatogenesis, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000226942 chr16 29336 38321 - IL9RP3 unprocessed_pseudogene 19 27 30 13 19 43 20 9 22 ENSG00000226943 chr7 6923804 6930835 + ALG1L5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226944 chr1 6204840 6205780 - AL031847.1 antisense 102724450 0 0 0 0 0 0 0 0 0 ENSG00000226945 chr1 206907619 206908229 + AC098935.1 processed_pseudogene 3 1 2 2 4 9 6 0 0 ENSG00000226946 chr2 161568502 161570185 - AC062022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226947 chr1 152644393 152644717 - LCEP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226948 chr20 4629427 4630219 - RPS4XP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226949 chr1 158742146 158743415 - OR6K5P unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000226950 chr4 52712404 52720351 + DANCR processed_transcript This gene produces a long non-coding RNA that functions as a negative regulator of cell differentiation. This transcript associates with enhancer of zeste homolog 2 to repress expression of the runt related transcription factor 2 gene. Increased expression of this transcript may be associated with cancer. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2016]. 57291 27 5 14 73 26 45 37 15 54 ENSG00000226952 chr1 100099239 100099490 + AC093019.1 processed_pseudogene 0 0 3 0 0 2 0 0 0 ENSG00000226953 chr2 133264968 133284762 + AC010890.1 antisense 101928161 0 0 0 0 0 0 0 0 0 ENSG00000226954 chr22 49718053 49724506 - AL023802.1 lincRNA 2 1 0 0 0 0 1 2 3 ENSG00000226955 chr3 32592972 32593312 - AC104306.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226956 chr21 17659276 17660384 - AP000432.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226957 chr1 46046818 46048368 + AL358075.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226960 chr1 93927714 93928302 - MTCO1P21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226961 chr2 11351627 11352118 + PPIAP60 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226962 chr7 115136475 115137220 - RAC1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226963 chr2 172427774 172428603 - AC078883.2 antisense 1 0 8 1 1 0 10 0 0 ENSG00000226964 chr10 47706203 47706802 + RHEBP2 processed_pseudogene 82 52 92 21 24 24 34 21 19 ENSG00000226965 chr7 110432239 110534754 - AC092167.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226967 chr1 170369223 170370367 - HAUS4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226968 chr13 32877431 32911650 - LINC00423 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226969 chr1 2049203 2050070 - AL391845.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000226970 chr1 84244334 84244577 + AL450063.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226971 chrX 48446893 48448879 - AL606490.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226972 chr2 44270621 44271106 + RPL12P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226973 chr1 115471941 115476027 + AL512638.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226975 chrY 10169788 10170314 - AC006987.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226976 chr6 37044860 37045189 + COX6A1P2 processed_pseudogene 8 5 6 4 4 8 3 2 11 ENSG00000226977 chr13 95809310 95809607 - HMGN1P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226978 chr7 79008988 79012277 + MAGI2-AS2 antisense 100874021 0 0 0 0 0 0 0 0 0 ENSG00000226979 chr6 31572054 31574324 + LTA protein_coding The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]. 4049 GO:0005886, GO:0005615, plasma membrane, extracellular space, GO:0005515, GO:0005164, GO:0005125, GO:0005102, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:0060252, GO:0050830, GO:0048535, GO:0048147, GO:0043065, GO:0042493, GO:0033209, GO:0032729, GO:0032496, GO:0007584, GO:0007267, GO:0007165, GO:0006959, GO:0006915, GO:0002925, GO:0002876, GO:0001666, positive regulation of glial cell proliferation, defense response to Gram-positive bacterium, lymph node development, negative regulation of fibroblast proliferation, positive regulation of apoptotic process, response to drug, tumor necrosis factor-mediated signaling pathway, positive regulation of interferon-gamma production, response to lipopolysaccharide, response to nutrient, cell-cell signaling, signal transduction, humoral immune response, apoptotic process, positive regulation of humoral immune response mediated by circulating immunoglobulin, positive regulation of chronic inflammatory response to antigenic stimulus, response to hypoxia, 0 0 0 0 0 0 0 0 0 ENSG00000226981 chr17 20814620 20844257 + ABHD17AP6 unprocessed_pseudogene 1 6 0 3 3 0 0 1 0 ENSG00000226982 chr12 89500093 89502670 + CENPCP1 processed_pseudogene 6 2 4 5 20 11 6 7 26 ENSG00000226983 chr21 24840550 25057746 + LINC01692 lincRNA 339622 0 0 0 0 0 0 0 0 0 ENSG00000226984 chr1 114459934 114460360 + AL035410.1 processed_pseudogene 0 0 0 1 0 2 0 2 1 ENSG00000226985 chrX 13334776 13403019 + LINC01203 lincRNA 100133123 1 0 0 0 0 0 0 0 0 ENSG00000226986 chr1 211207239 211207897 + AC092017.1 processed_pseudogene 0 0 2 1 0 2 0 3 0 ENSG00000226987 chr9 131240687 131241724 + AL157938.1 processed_pseudogene 0 4 5 7 3 9 8 5 1 ENSG00000226989 chr22 42853403 42853799 - AL049758.1 processed_pseudogene 2 0 0 3 0 1 3 4 1 ENSG00000226990 chr10 8400860 8461863 + AC025946.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226991 chr2 110358790 110359126 + AC140479.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226992 chr2 238788648 238789716 - AC145625.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226994 chr2 34799850 35185689 + AC012593.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226995 chr20 5426895 5471094 - LINC00658 lincRNA 100507629 1 3 2 3 4 0 3 2 0 ENSG00000226996 chr21 24043257 24050286 + AP000477.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000226998 chr9 31505280 31505943 + MTATP6P30 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000226999 chr7 45534523 45534681 - AC073325.2 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000227000 chr1 33838523 33840140 + HSPD1P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227001 chr1 21424625 21427967 - NBPF2P unprocessed_pseudogene 3 1 1 5 0 3 4 0 0 ENSG00000227002 chr1 223644110 223644383 - SNRPEP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227004 chr2 199872172 199872378 + AC108032.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227006 chr1 230258694 230268483 - AL136988.2 antisense 1 2 0 0 1 2 1 5 0 ENSG00000227007 chr2 6366010 6375422 - LINC01247 lincRNA 101929390 0 0 0 0 0 0 0 0 0 ENSG00000227008 chrX 133670971 133671386 + AL009174.1 processed_pseudogene 2 2 1 0 1 3 1 3 4 ENSG00000227009 chr22 39155525 39155945 + FUNDC2P4 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000227011 chr17 52985513 52987652 + C17orf112 lincRNA 100506650 0 0 0 0 0 0 0 0 0 ENSG00000227012 chr6 111900489 111901851 - LINC02527 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227013 chr8 8039978 8040953 + OR7E96P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227014 chr7 29988600 30027543 + AC007285.1 antisense 3 0 1 5 0 0 1 1 0 ENSG00000227015 chr7 57770619 57770946 - AC023141.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227016 chr1 72765031 72791282 + AL583808.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227017 chr7 30176387 30179014 - AC007036.1 lincRNA 5 1 2 5 5 3 1 1 0 ENSG00000227018 chr17 15783288 15784307 + IL6STP1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000227019 chr13 46460609 46461121 + OR7E101P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227021 chr2 216868012 216869156 + AC007557.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227023 chr11 4937371 4938294 - OR51A3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227028 chr2 39786453 40255209 + SLC8A1-AS1 antisense 100128590 116 104 95 62 119 109 120 81 97 ENSG00000227029 chr10 43912444 43914236 + AL139237.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000227032 chr10 96620877 96621707 - RPS2P36 processed_pseudogene 11 21 4 28 57 35 26 24 27 ENSG00000227033 chr2 231978488 232015720 - AC019130.1 antisense 0 0 1 8 0 11 8 3 10 ENSG00000227034 chr1 99008218 99008474 + AL445433.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000227035 chr7 64106822 64107572 - MTATP6P18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227036 chr17 72290091 72640472 - LINC00511 processed_transcript 400619 0 1 0 7 1 0 3 1 0 ENSG00000227038 chr7 76090431 76108779 - GTF2IP7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227039 chr21 44921051 44929678 + ITGB2-AS1 antisense 100505746 508 832 1453 411 1006 1519 433 844 1185 ENSG00000227040 chr4 56760919 56761485 - AC022483.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227042 chrX 10242339 10365323 + AC003666.1 lincRNA 0 0 0 0 5 0 0 2 0 ENSG00000227043 chr1 229875550 229885752 - LINC01682 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227045 chr1 151701026 151708386 + AL589765.1 antisense 0 3 2 0 2 6 3 7 12 ENSG00000227047 chr2 20499571 20501311 - AC012065.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227048 chr1 201428975 201429361 + AC096677.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227050 chr1 27938875 27960193 - AL512288.1 antisense 108 120 144 21 53 43 29 47 28 ENSG00000227051 chr14 96039324 96093889 + C14orf132 protein_coding 56967 GO:0016021, integral component of membrane, 2 0 5 1 0 9 7 6 9 ENSG00000227053 chr7 101014320 101017608 - AC105446.1 antisense 102724094 0 0 2 0 4 0 0 0 3 ENSG00000227054 chr21 25692180 25692554 + FDX1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227055 chr2 159812234 159814009 - AC009961.2 processed_pseudogene 0 0 1 1 1 0 0 1 2 ENSG00000227056 chr1 119219314 119220096 - RPL6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227057 chr6 33279108 33289527 - WDR46 protein_coding 9277 GO:0032040, GO:0005730, GO:0005654, GO:0005575, small-subunit processome, nucleolus, nucleoplasm, cellular_component, GO:0003723, RNA binding, GO:0006364, GO:0000462, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 0 0 0 0 0 0 0 0 0 ENSG00000227058 chrX 52545151 52547695 + BX510359.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227059 chr12 133218312 133236095 - ANHX protein_coding 647589 GO:0005667, GO:0005634, transcription regulator complex, nucleus, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006357, GO:0001654, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000227060 chrX 134549973 134559923 + LINC00629 lincRNA 100506757 0 0 0 0 0 0 0 0 0 ENSG00000227061 chr2 197569 202605 + AC079779.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000227062 chr1 80464301 80464718 - AL596276.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227063 chr20 21755270 21755350 + RPL41P1 processed_pseudogene 32 32 41 56 34 80 56 35 47 ENSG00000227064 chrX 132907279 132907575 - Z82205.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227066 chr1 20154338 20160568 + Z98257.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227067 chrX 103961811 103962279 - DPPA3P1 processed_pseudogene 0 0 0 0 0 5 0 0 0 ENSG00000227068 chr9 125567579 125573023 + AL162584.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000227069 chr9 40346144 40347052 - CNN2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227070 chr1 51518309 51561629 + AC104170.1 antisense 1 4 2 2 1 0 0 3 4 ENSG00000227071 chr9 20683304 20684688 - FOCAD-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227072 chr6 108387512 108388080 + AL353706.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227073 chr7 135444461 135444925 + SDHDP2 processed_pseudogene 1 0 1 1 3 3 0 0 2 ENSG00000227075 chr21 21933315 21975681 - AP000472.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227076 chr10 127934698 127936167 + AL158166.1 sense_intronic 6 4 11 3 4 6 0 1 2 ENSG00000227077 chr17 18572752 18572961 + AC107983.1 processed_pseudogene 1 1 0 1 0 0 0 1 1 ENSG00000227078 chr17 19419035 19424357 + LINC02094 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000227080 chr7 51388430 51389114 - AC012441.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227081 chr12 3211663 3211917 - AC005912.1 processed_pseudogene 216 196 331 578 269 714 422 218 412 ENSG00000227082 chr1 121396754 121463429 + AC244021.1 lincRNA 0 0 1 1 0 3 2 0 0 ENSG00000227083 chrX 147900178 147901459 - L29074.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227087 chr5 80331573 80332541 - RBMX2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227088 chr2 77652413 77654668 - AC084149.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227089 chr6 21354411 21355296 - AL031767.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227090 chr21 24886676 24902756 - AP000402.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227091 chr1 110166186 110172489 - AL355990.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227094 chr1 162316852 162317794 - AL512785.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227096 chr10 116439468 116440044 - HMGB3P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227097 chr11 82689559 82689768 + RPS28P7 processed_pseudogene 77 5 123 211 19 282 159 17 135 ENSG00000227098 chr2 176845993 176849428 - AC073636.1 lincRNA 105373757 0 0 0 0 0 0 0 0 0 ENSG00000227101 chr10 4024940 4028394 + AC025822.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227102 chr1 248549444 248549762 - OR2AS1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227104 chr1 55938714 55939280 - PIGQP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227105 chr13 110936759 110939784 + PARP1P1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000227107 chr2 237612977 237626525 + AC104667.1 lincRNA 0 1 0 0 0 6 0 3 0 ENSG00000227108 chr14 105900638 105900654 - IGHD1-14 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000227109 chr1 202096759 202096978 + CRIP1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227110 chr3 7952805 8611924 - LMCD1-AS1 antisense 101927394 0 0 0 0 0 0 0 0 0 ENSG00000227113 chr7 65075023 65078780 + AC073210.1 unprocessed_pseudogene 4 8 0 0 2 7 0 5 0 ENSG00000227115 chr18 51346249 51643939 + LINC01630 lincRNA 100287225 0 0 0 0 0 0 0 0 0 ENSG00000227117 chr22 30008742 30080480 - HORMAD2-AS1 antisense 101929664 2 0 2 4 12 11 11 12 8 ENSG00000227118 chr4 98740742 98741231 + BTF3P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227120 chr2 95436133 95436556 + AC009238.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227121 chr10 52973488 52975815 - AC073174.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227123 chr3 44937673 44938482 + RPL12P44 processed_pseudogene 7 7 13 0 8 9 5 5 4 ENSG00000227124 chr3 75678660 75785583 - ZNF717 protein_coding This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]. 100131827 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 11 17 10 17 14 15 20 14 16 ENSG00000227125 chr11 131204999 131215163 + AP002856.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227128 chr10 101229594 101270148 + LBX1-AS1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000227131 chr6 40271566 40276237 - AL139275.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227133 chr2 26160023 26161136 + AC011742.1 processed_pseudogene 0 0 0 1 2 0 0 1 4 ENSG00000227134 chr2 146477427 146478113 + AC093084.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227138 chr9 10777357 10777525 + AL161788.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227139 chr1 147697794 147699335 + AC241644.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227140 chr4 9339403 9340995 + USP17L5 protein_coding 728386 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006915, GO:0006511, regulation of apoptotic process, protein deubiquitination, apoptotic process, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000227141 chr1 179586705 179589175 + AL160286.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000227143 chr10 121178700 121185966 + LINC01153 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227145 chr4 122618983 122689156 + IL21-AS1 antisense 100996941 0 1 0 0 0 0 1 0 0 ENSG00000227148 chr7 63044827 63054431 - AC069285.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227149 chr2 140216997 140217239 - MTCO1P44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227150 chr9 134552738 134553897 + AL669970.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227151 chr13 57160632 57163653 + PRR20D protein_coding 729246 GO:0042802, GO:0005515, identical protein binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000227152 chr1 248436359 248444316 + OR2T7 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81458 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000227154 chr6 35443044 35449847 + AL022721.1 unprocessed_pseudogene 2 2 0 2 0 4 1 1 0 ENSG00000227155 chr9 452492 492248 - AL161725.1 antisense 214 276 346 245 617 518 371 292 453 ENSG00000227157 chr2 104411201 104415612 + AC068535.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227158 chr17 17422681 17423704 + AC073621.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227159 chrX 156025664 156027877 - DDX11L16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227160 chr11 32112049 32343409 - THEM7P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227161 chr15 59644298 59672302 - AC092755.1 sense_overlapping 0 0 0 0 3 0 1 5 0 ENSG00000227163 chr1 44087958 44088477 - AL139220.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227165 chr10 120761812 120851345 - WDR11-AS1 antisense 283089 0 0 0 0 0 0 0 1 6 ENSG00000227166 chrY 15547216 15593331 + STSP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227167 chr9 18360597 18362220 - AL442638.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227169 chr1 4551735 4552145 - Z98747.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227170 chr8 115509602 115511325 + AF178030.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227172 chr7 39545646 39566239 - AC011290.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227173 chr10 65169438 65169869 - MYL6P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227175 chr10 13528516 13530262 + AL590677.1 antisense 3 1 6 2 1 0 1 5 0 ENSG00000227176 chr2 170077224 170078294 - AC092641.1 processed_pseudogene 4 0 4 4 4 10 0 1 0 ENSG00000227177 chr1 172885947 172886258 - AIMP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227179 chr1 111382860 111391819 - PGCP1 transcribed_unprocessed_pseudogene 441897 0 0 0 0 0 0 0 0 0 ENSG00000227180 chr2 174299324 174300956 - AC013467.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227181 chr1 182712862 182714544 + LINC01688 lincRNA 105371644 0 0 0 0 0 0 0 0 0 ENSG00000227182 chr7 57422830 57423725 - VN1R28P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227183 chrX 131646639 131646890 + HDGFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227186 chr10 75023475 75024251 - AC018511.1 antisense 0 0 1 1 0 0 0 1 0 ENSG00000227187 chr2 175033778 175034192 - AC007435.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000227188 chr22 39475807 39476822 - MGAT3-AS1 antisense 104502417 0 0 0 0 0 0 0 0 0 ENSG00000227189 chr4 1151372 1153701 + AC092535.1 antisense 2 0 0 4 0 0 0 0 0 ENSG00000227191 chr7 38239580 38249572 - TRGC2 TR_C_gene 30 29 77 108 47 209 92 49 183 ENSG00000227192 chr6 143039425 143042324 - AL023581.2 lincRNA 0 0 0 0 0 2 0 0 0 ENSG00000227193 chr1 121118126 121146826 + AC244453.1 lincRNA 0 2 1 0 0 0 0 2 1 ENSG00000227195 chr20 26186920 26251526 - MIR663AHG processed_transcript 284801 1 0 0 1 0 0 0 0 0 ENSG00000227196 chr14 105884870 105884888 - IGHD4-23 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000227197 chr7 132830693 132849593 + AC009365.2 antisense 0 0 4 1 0 0 0 0 0 ENSG00000227198 chr6 31658329 31660721 + C6orf47-AS1 antisense 0 0 0 0 2 1 0 1 0 ENSG00000227199 chr7 116952446 116954334 - ST7-AS1 antisense 93653 0 1 3 2 4 3 0 0 5 ENSG00000227200 chr9 124262876 124265809 + AL162724.1 sense_intronic 1 0 4 0 4 7 0 1 5 ENSG00000227201 chr22 30046276 30047193 - CNN2P1 processed_pseudogene 9 9 13 21 64 57 28 34 40 ENSG00000227203 chr8 11790005 11790386 + SUB1P1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000227204 chrY 8127130 8144203 + RBMY2JP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227205 chr1 119853316 119853748 + PFN1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227206 chr6 29124210 29128908 + AL645937.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227207 chr1 72301472 72301829 + RPL31P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227209 chr10 80940665 80941201 - WARS2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227210 chr2 19990217 20004210 + AC079145.1 antisense 101928222 0 0 0 0 0 0 2 0 0 ENSG00000227211 chrX 102615473 102615820 - AL035551.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227212 chr1 144442606 144443004 + PFN1P6 processed_pseudogene 1 6 7 3 1 8 13 1 5 ENSG00000227213 chr13 24252749 24254439 - SPATA13-AS1 antisense 100874231 0 2 0 2 0 0 2 0 0 ENSG00000227214 chr6 28986203 28987484 + HCG15 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227215 chr6 82932601 82938677 + AL355613.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227217 chr1 157691762 157696459 + AL356276.1 antisense 1 4 19 7 13 13 27 9 11 ENSG00000227218 chr9 127934503 127940952 + AL157935.1 antisense 16 4 10 23 4 19 36 3 1 ENSG00000227220 chr6 131950946 132077393 + AL133346.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227224 chr3 53474700 53475089 - AC092035.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227225 chr17 19602259 19603208 + MTND1P14 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227227 chr2 186641339 186695287 - AC017101.1 antisense 7 2 13 7 0 3 6 0 8 ENSG00000227230 chr1 243135898 243140588 + AL606534.1 antisense 1 8 1 0 0 0 0 29 19 ENSG00000227232 chr1 14404 29570 - WASH7P unprocessed_pseudogene 653635 39 23 18 47 26 60 54 35 53 ENSG00000227233 chr7 51382284 51384660 + CICP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227234 chrX 141002591 141003706 + SPANXB1 protein_coding Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular family member contains an additional 18 nucleotides in its coding region compared to the other family members in the same gene cluster. This family member is also subject to gene copy number variation. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq, Apr 2014]. 728695 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0007286, spermatid development, 0 0 0 0 0 0 0 0 0 ENSG00000227236 chr1 235614674 235616397 + AL583844.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227237 chr1 248859164 248864796 + AL672291.1 antisense 0 0 0 0 1 0 2 0 0 ENSG00000227238 chr2 38763534 38765221 + TTC39DP unitary_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000227240 chr1 194149473 194198694 + AL356272.1 lincRNA 0 0 0 1 0 0 3 0 0 ENSG00000227241 chr2 178105637 178105753 + AC011998.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227242 chr1 147019656 147056593 - NBPF13P unprocessed_pseudogene 6 1 12 13 3 14 4 0 2 ENSG00000227243 chr1 162445549 162446566 + SLAMF6P1 unprocessed_pseudogene 0 0 1 0 0 0 1 0 0 ENSG00000227244 chr10 61016275 61026420 + LINC00845 lincRNA 100507058 0 0 0 0 0 0 0 0 0 ENSG00000227245 chr3 43087479 43088068 + AC092042.1 lincRNA 0 1 1 2 1 0 0 1 2 ENSG00000227247 chr13 89248818 89250100 - TRIM60P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227248 chr13 107788342 107835451 - FAM155A-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000227249 chr7 126511135 126512879 + AC000374.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227251 chrY 23058030 23059186 + TRIM60P9Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227252 chr2 237059434 237085817 - AC105760.2 antisense 0 1 0 0 0 8 1 1 0 ENSG00000227253 chr10 32266289 32269474 + AL158834.2 antisense 79 79 137 91 92 96 80 65 85 ENSG00000227254 chr13 34082429 34083310 - VDAC1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227255 chr17 15764703 15765664 + CDRT15P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227256 chr21 32277863 32280988 + MIS18A-AS1 antisense 0 0 1 0 0 0 1 0 0 ENSG00000227257 chr9 96918928 96919318 + AL158827.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000227258 chr13 44110451 44240517 + SMIM2-AS1 antisense 0 0 0 0 1 4 0 0 0 ENSG00000227259 chr2 100591150 100591324 - HMGN2P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227260 chr3 30524745 30527185 + LINC01985 lincRNA 101928015 0 0 0 0 0 0 0 0 0 ENSG00000227261 chrX 64612632 64613262 - YWHAZP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227262 chr6 29925983 29926973 - HCG4B unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000227264 chr10 38696424 38697902 + ACTR3BP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227265 chr2 94734655 94735844 - AL845331.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227267 chr3 136055184 136055764 + AC072039.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000227268 chr10 87859161 87863437 - KLLN protein_coding The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012]. 100144748 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0003677, DNA binding, GO:0007050, GO:0006915, cell cycle arrest, apoptotic process, 140 103 150 27 63 55 60 55 82 ENSG00000227269 chr9 99183373 99184891 + AL162427.1 lincRNA 0 0 0 0 0 1 0 0 1 ENSG00000227270 chr2 107903964 107904241 + AC009963.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227271 chr10 75269392 75269545 - RPL39P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227274 chr17 12671862 12706135 - AC005358.1 antisense 101928418 0 0 0 0 0 0 0 0 0 ENSG00000227275 chr2 131369785 131370301 + MTND6P10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227278 chr1 40514461 40515057 - AL603839.1 antisense 6 3 4 2 4 3 3 3 7 ENSG00000227279 chr18 27954519 27963687 + AC110015.1 antisense 8 3 9 8 3 3 5 2 3 ENSG00000227282 chr20 59515191 59516039 + AL389889.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227283 chr4 163382179 163382516 + RPL35AP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227284 chr7 96858182 96859618 + MARK2P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227288 chr1 81501794 81503468 + AL138799.1 processed_pseudogene 15 13 18 14 34 16 18 8 21 ENSG00000227289 chrY 2881683 2883652 - HSFY3P unprocessed_pseudogene 0 0 0 1 0 0 0 0 2 ENSG00000227290 chr1 87353524 87371655 - LINC01364 lincRNA 100505768 0 0 1 0 0 0 0 0 0 ENSG00000227291 chr2 117180892 117181562 - AC092170.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227292 chr2 38203363 38239590 - AC009229.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227293 chr2 66235377 66236213 - AC118345.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227294 chr2 106834464 106841207 + AC016994.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227295 chr1 158175850 158177755 - ELL2P1 processed_pseudogene 6 1 18 3 2 0 1 1 3 ENSG00000227297 chr20 57599695 57601200 - AL035541.1 lincRNA 1 3 5 4 3 21 14 2 12 ENSG00000227298 chr7 63342711 63343200 + ARAFP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227300 chr17 16829999 16832830 - KRT16P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227301 chr9 33719690 33722555 + AL356489.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227302 chrX 48322349 48326683 + SSXP9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227303 chrX 143284977 143516803 + AC239727.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227304 chr4 82494786 82496278 - AC067942.1 transcribed_processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000227305 chr7 63393788 63422046 + AC073188.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227306 chr11 1688297 1689056 + AP006285.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227307 chr10 120925547 120980700 - AC010998.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227308 chr2 219685381 219737937 + AC009502.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227309 chr3 17465150 17465510 + AC140076.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000227311 chr1 40333078 40333557 - AL031985.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227312 chr1 24563627 24563974 + AL445686.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227313 chr10 35896874 35898963 - AL365500.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227321 chr9 92110865 92111897 + MTND4P15 unprocessed_pseudogene 7 6 11 19 20 28 26 17 25 ENSG00000227329 chrX 53164391 53164557 - AL139396.1 processed_pseudogene 4 0 1 1 0 2 2 0 1 ENSG00000227330 chr21 18022370 18114904 - AF130417.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227331 chr2 158548425 158549224 + AC005042.1 processed_pseudogene 11 4 2 5 9 10 12 1 5 ENSG00000227335 chr14 105865624 105865678 - IGHJ1P IG_J_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227336 chr13 60214352 60214946 - LINC00434 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227337 chr3 32785646 32786116 + RPL23AP43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227338 chr10 3266003 3267015 + AL139280.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227339 chr3 31452832 31455894 + THRAP3P1 processed_pseudogene 1 0 0 0 0 0 1 0 0 ENSG00000227342 chr21 30209151 30211783 - LINC00307 lincRNA 266919 0 0 0 0 0 0 0 0 0 ENSG00000227343 chr20 18090116 18090715 - RPL15P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227344 chr7 53187388 53188938 + HAUS6P1 processed_pseudogene 0 0 1 1 4 5 7 2 4 ENSG00000227345 chr10 49818279 49970203 - PARG protein_coding Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]. 8505 GO:0043231, GO:0005829, GO:0005759, GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, intracellular membrane-bounded organelle, cytosol, mitochondrial matrix, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0004649, GO:0004649, GO:0004649, protein binding, poly(ADP-ribose) glycohydrolase activity, poly(ADP-ribose) glycohydrolase activity, poly(ADP-ribose) glycohydrolase activity, GO:1990966, GO:1990966, GO:0031056, GO:0009225, GO:0006974, GO:0006282, GO:0005975, ATP generation from poly-ADP-D-ribose, ATP generation from poly-ADP-D-ribose, regulation of histone modification, nucleotide-sugar metabolic process, cellular response to DNA damage stimulus, regulation of DNA repair, carbohydrate metabolic process, 79 89 125 57 64 118 80 56 80 ENSG00000227347 chr2 136199114 136200503 - HNRNPKP2 processed_pseudogene 8 7 15 3 7 9 4 10 10 ENSG00000227348 chr2 201212283 201213081 - MTND5P25 unprocessed_pseudogene 0 0 0 0 5 0 2 1 0 ENSG00000227349 chr19 42949503 42950387 - CEACAMP7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227350 chr9 107543151 107543616 - PPIAP88 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227351 chr10 99788564 99789410 - NANOGP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227352 chr13 111144305 111144733 - ARHGEF7-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227353 chr9 42492663 42493570 + RAB28P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227354 chr13 79406309 79424328 + RBM26-AS1 antisense 100505538 3 4 0 5 4 7 3 1 1 ENSG00000227355 chr9 121369906 121463237 + AL359644.1 antisense 0 1 0 0 0 3 0 3 1 ENSG00000227356 chr10 97828478 97849798 - LINC00866 lincRNA 100505561 0 0 0 0 0 0 0 0 0 ENSG00000227358 chr9 95652912 95653266 + AL354861.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227359 chr2 113677702 113704078 - AC017074.1 lincRNA 2 0 1 2 4 0 6 3 0 ENSG00000227360 chr6 156493226 156499771 - AL512658.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227361 chr2 61803143 61803388 + RPS24P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227364 chr2 2729908 2730957 - AC018685.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227365 chr7 155510283 155518623 + AC008060.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227367 chr22 16428947 16476870 - SLC9B1P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227368 chr2 112932625 112933171 + CDK8P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227370 chr22 42132543 42132998 + AC254562.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227371 chr7 121419072 121419845 + AC074085.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227372 chr1 3735511 3747373 - TP73-AS1 transcribed_unitary_pseudogene 57212 23 36 37 66 28 36 95 17 36 ENSG00000227373 chr1 174115300 174160004 - AL121983.2 lincRNA 102724601 0 1 1 0 0 0 0 2 0 ENSG00000227374 chr10 129768844 129769435 + AL157832.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227375 chr3 197298252 197303747 + DLG1-AS1 antisense 100507086 0 0 0 1 0 0 2 0 0 ENSG00000227376 chr11 77734475 77735026 - FTH1P16 processed_pseudogene 17 27 29 13 35 25 18 29 38 ENSG00000227379 chr20 25368275 25368766 - PPIAP2 processed_pseudogene 0 0 0 1 0 3 2 0 2 ENSG00000227382 chr10 73199826 73201225 + EIF4A2P2 processed_pseudogene 0 1 3 2 2 0 0 0 2 ENSG00000227383 chr9 34191555 34191881 + AL353662.1 processed_pseudogene 1 2 1 10 8 6 3 0 9 ENSG00000227386 chr7 25547762 25551062 - AC091705.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227388 chr9 35772163 35790432 + AL133410.1 lincRNA 0 1 0 5 0 3 5 0 0 ENSG00000227391 chrX 49664844 49668680 - SALL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227392 chr19 35059059 35106304 - HPN-AS1 antisense 100128675 0 1 0 0 3 0 2 0 0 ENSG00000227393 chrX 29369001 29369845 - AL031575.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227394 chr2 64960053 64960634 - AC007386.1 processed_pseudogene 0 0 0 0 1 0 0 2 0 ENSG00000227395 chr10 44806443 44808223 + EIF2AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227397 chr7 63789909 63790098 + AC079355.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227398 chr3 47164497 47246601 + KIF9-AS1 antisense 24 19 29 15 14 38 27 20 15 ENSG00000227399 chr9 92006062 92006544 + AL391219.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227400 chr2 153421616 153593288 - AC012501.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000227401 chr20 35588324 35588607 + RPL37P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227403 chr2 161244739 161249050 + LINC01806 lincRNA 100996579 2 3 5 5 4 5 0 2 8 ENSG00000227404 chr7 38655205 38656613 + KRT8P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227406 chr21 39373763 39377066 - RNF6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227407 chr19 54430654 54434698 - AC245884.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227408 chr1 103713723 103719871 + AMYP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227409 chr1 35358822 35366077 - ZMYM4-AS1 antisense 100861513 6 4 5 1 4 6 5 0 1 ENSG00000227411 chr9 101334084 101339347 - ACNATP unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227412 chr9 85492579 85494094 + STK33P1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000227413 chr22 40433136 40433641 + AL022238.1 processed_pseudogene 3 4 9 7 14 5 11 8 10 ENSG00000227416 chr1 37782457 37782885 - AL929472.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227417 chr1 203805621 203806263 - AC114402.2 processed_pseudogene 4 2 5 2 5 11 2 4 11 ENSG00000227418 chr2 192749845 192776899 + PCGEM1 lincRNA This gene produces a long non-coding RNA that is overexpressed in prostate cancer and may act a marker for tumor progression. This RNA may act a negative regulator of apoptosis, and may promote activity of androgen receptor and Myc. [provided by RefSeq, Dec 2017]. 64002 GO:0042981, regulation of apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000227421 chr1 196044996 196061073 - LINC01724 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227423 chr12 55193882 55194786 - OR10U1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227425 chr1 157861197 157861460 + MRPS21P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227426 chr7 63401385 63402271 - VN1R33P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227427 chrX 57766320 57767292 + Z93019.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227430 chr2 208466238 208466626 - AC019185.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000227431 chr20 49040463 49046044 - CSE1L-AS1 antisense 102723483 0 0 1 0 0 0 0 1 0 ENSG00000227432 chr2 219482073 219516877 - AC053503.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227433 chr3 195349664 195350030 + AC090018.1 processed_pseudogene 0 0 0 1 1 3 0 3 0 ENSG00000227434 chrX 90209796 90210420 - RNF19BPX processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227436 chr7 23619333 23622826 + FCF1P1 processed_pseudogene 6 3 4 2 4 4 2 3 2 ENSG00000227437 chr10 119638456 119639082 + RPS8P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227438 chr21 46093264 46097530 - AP001471.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227439 chrY 24485332 24486463 + TTTY17B lincRNA There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]. 474151 0 0 0 0 0 0 0 0 0 ENSG00000227440 chr3 172828736 172829176 - ATP5MC1P4 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000227443 chr9 21638285 21638676 + AL137022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227444 chrY 21918935 21921106 + AC007322.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227445 chr1 158514785 158515925 + OR10R1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227447 chrY 12440046 12507369 - XGY1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227449 chr9 62376161 62435199 + FGF7P6 transcribed_unprocessed_pseudogene 0 0 0 0 0 1 6 0 0 ENSG00000227453 chr1 54536796 54537758 + HNRNPA1P63 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227454 chr2 202617983 202618881 + MTND4P30 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227455 chr6 164827750 164831630 + AL450345.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000227456 chr21 34157724 34190244 + LINC00310 lincRNA 114036 5 3 1 11 6 10 0 5 18 ENSG00000227459 chr2 239625698 239630839 + AC079612.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227462 chr10 22225698 22226024 + PSME2P6 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000227463 chr9 84063443 84094577 + AL390838.1 lincRNA 101927575 0 0 0 0 0 0 0 0 0 ENSG00000227465 chr10 25647570 25648104 - GPN3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227466 chr1 66042500 66050718 - AL590783.1 antisense 101927139 0 0 0 0 0 0 0 0 0 ENSG00000227467 chr11 72570660 72573229 + LINC01537 lincRNA 101928555 1 0 0 2 2 15 1 2 0 ENSG00000227470 chr2 108878308 108878460 + AC073415.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227471 chr7 134549136 134579875 + AKR1B15 protein_coding 441282 GO:0005829, GO:0005759, GO:0005739, cytosol, mitochondrial matrix, mitochondrion, GO:0052650, GO:0047886, GO:0047655, GO:0047045, GO:0004303, GO:0004032, NADP-retinol dehydrogenase activity, farnesol dehydrogenase activity, allyl-alcohol dehydrogenase activity, testosterone 17-beta-dehydrogenase (NADP+) activity, estradiol 17-beta-dehydrogenase activity, alditol:NADP+ 1-oxidoreductase activity, GO:0055114, GO:0042572, GO:0006703, oxidation-reduction process, retinol metabolic process, estrogen biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000227473 chr8 144141214 144143664 - TSSK5P unitary_pseudogene 0 0 1 2 0 4 0 0 0 ENSG00000227474 chr10 13591460 13592323 - RPL6P24 processed_pseudogene 0 0 2 0 0 2 0 0 2 ENSG00000227475 chr10 36089086 36089389 - AL355300.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227477 chr20 44963794 44966402 - STK4-AS1 lincRNA 100505826 1 1 2 0 3 4 1 0 0 ENSG00000227479 chr2 240227560 240256035 - AC124861.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227480 chr2 158166650 158236169 + CCDC148-AS1 antisense 554201 0 0 2 0 1 3 0 1 0 ENSG00000227481 chr7 33730292 33732064 - AC008080.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227482 chr9 113650956 113682855 + AL157702.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227484 chr22 50314631 50316008 + CR559946.1 antisense 0 1 0 0 0 3 0 0 0 ENSG00000227485 chr1 63024207 63025658 + AL162400.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227486 chrX 55908123 56015173 + AL445472.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227487 chr11 113269532 113273901 - NCAM1-AS1 antisense 1 0 8 1 0 4 5 1 0 ENSG00000227488 chrX 49541767 49549094 + GAGE12D protein_coding 100132399 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000227489 chr7 15066207 15068651 + AC006458.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227491 chr7 56228634 56229782 - CCNJP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227492 chr10 100229667 100234000 + AL138921.1 antisense 59 48 70 52 62 72 69 34 36 ENSG00000227493 chrX 51030422 51031357 - AC239367.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227494 chrY 18481087 18487400 + USP9YP14 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227495 chr17 5019214 5020093 - AC004771.1 antisense 102724009 19 18 28 2 15 10 11 8 20 ENSG00000227496 chr1 225700604 225752243 + AC099066.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227497 chr2 91877969 91880195 + PABPC1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227498 chr3 34524818 34543880 - AC018359.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227499 chr7 55877912 55878164 + AC092647.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227500 chr19 1905214 1926013 + SCAMP4 protein_coding Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011]. 113178 GO:0055038, GO:0032588, GO:0016021, recycling endosome membrane, trans-Golgi network membrane, integral component of membrane, GO:0005515, protein binding, GO:0015031, protein transport, 214 274 292 184 194 192 164 211 178 ENSG00000227502 chr6 113868013 113873351 - LINC01268 lincRNA 285758 7 8 36 0 4 0 1 1 3 ENSG00000227505 chrX 147801005 147801302 + AC016925.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227507 chr6 31580525 31582522 - LTB protein_coding Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 4050 GO:0016021, GO:0005886, GO:0005615, GO:0005575, integral component of membrane, plasma membrane, extracellular space, cellular_component, GO:0005164, GO:0005125, GO:0005102, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:0048535, GO:0043588, GO:0033209, GO:0032735, GO:0010467, GO:0007267, GO:0007165, GO:0006955, lymph node development, skin development, tumor necrosis factor-mediated signaling pathway, positive regulation of interleukin-12 production, gene expression, cell-cell signaling, signal transduction, immune response, 0 0 0 0 0 0 0 0 0 ENSG00000227508 chr6 170272474 170279887 + LINC01624 lincRNA 401289 2 0 2 0 0 0 0 0 0 ENSG00000227509 chr3 184505113 184508399 + LINC01839 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227510 chr13 60917001 60941768 + LINC01442 lincRNA 103456507 0 0 0 0 0 0 0 0 0 ENSG00000227511 chrX 26170052 26170913 + AC005297.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227512 chr9 136542881 136543835 + AL592301.1 antisense 43 38 65 32 52 25 52 43 9 ENSG00000227513 chr2 106344566 106345433 + AC114755.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227514 chr8 113376669 113377227 + AC107890.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227515 chr10 80040621 80041044 - C1DP4 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000227516 chr6 41868622 41869731 + AL160163.1 lincRNA 0 0 0 1 0 0 3 0 0 ENSG00000227517 chr17 69577251 69903000 + LINC01483 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000227518 chr9 27657 30891 + AL928970.1 antisense 2 0 0 2 3 11 3 0 5 ENSG00000227519 chr22 31963357 31970400 + AL008719.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227521 chrX 94319038 94320025 + AL390840.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227523 chr3 27462506 27462816 + RPS20P15 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000227525 chr12 19089151 19089888 + RPL7P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227527 chr1 42335386 42338376 - AC096540.1 sense_overlapping 1 1 0 0 0 0 0 0 0 ENSG00000227528 chr13 60012751 60044357 + DIAPH3-AS1 antisense 100874195 0 0 0 0 0 0 0 0 0 ENSG00000227531 chr9 111139246 111284836 - AL162414.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227532 chr7 117187548 117187740 - AC002542.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227533 chr1 42959049 42983358 + SLC2A1-AS1 lincRNA 440584 1 0 0 0 0 0 0 0 0 ENSG00000227534 chrX 65469087 65470380 + Z83841.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227535 chr6 104831129 104845820 - AL357315.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000227536 chrX 71043214 71045470 - SOCS5P4 processed_pseudogene 7 0 2 0 4 0 1 3 4 ENSG00000227537 chr10 23258211 23258545 + AL139281.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227538 chr1 42040597 42041729 + HNRNPFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227540 chr10 73252791 73254349 + DNAJC9-AS1 antisense 414245 6 4 2 2 18 2 14 6 3 ENSG00000227541 chrX 120202061 120202748 - SFR1P1 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000227542 chr2 191229165 191246172 - AC092614.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227543 chr17 28598790 28617377 + SPAG5-AS1 processed_transcript 206 275 229 239 372 323 259 199 194 ENSG00000227544 chr7 35715034 35734887 + AC018647.1 lincRNA 0 0 0 0 0 0 0 0 5 ENSG00000227545 chr7 63349154 63350059 - AC006455.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227547 chr11 54667298 54668210 + OR4A2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227549 chr3 30524990 30526213 - AC116035.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227550 chr7 142474096 142474567 + TRBV7-5 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227551 chr4 9220152 9221744 + USP17L12 protein_coding 100287205 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000227554 chr1 183754418 183754937 - AL590422.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227555 chr9 90020654 90041499 - MIR4290HG lincRNA 286370 0 0 0 0 0 0 0 0 0 ENSG00000227556 chr1 78317157 78317263 - AC096531.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227557 chr2 143098484 143098829 - MTND3P9 processed_pseudogene 4 2 3 12 9 15 4 3 8 ENSG00000227560 chr10 112987476 112987865 + RPS15AP30 processed_pseudogene 7 4 6 7 16 12 0 6 11 ENSG00000227562 chr7 151950386 151954985 - AC074257.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227563 chr20 14547184 14547623 - RNF11P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227564 chr13 63183101 63328094 - LINC00376 lincRNA 104355293 0 0 0 0 0 0 0 0 0 ENSG00000227568 chr13 18807279 18808018 - SNX18P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227573 chr7 122849746 122850352 + AC004986.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227574 chr2 110449242 110451064 + AC112229.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227578 chr3 15141380 15142157 + RPS3AP53 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000227579 chr1 177393287 177597709 - AL122019.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227581 chrX 90039213 90039834 - AL121877.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000227582 chr9 62860873 62864957 - ADGRF5P1 transcribed_processed_pseudogene 0 0 0 1 0 0 2 0 0 ENSG00000227583 chr10 68674356 68675100 + RPS3AP37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227584 chr7 57192695 57194068 + MTND4P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227585 chr1 221549786 221550643 - AL360013.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227586 chr10 123171535 123171875 - RPS26P39 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000227588 chr3 2110409 2144241 - CNTN4-AS2 lincRNA 100873976 0 0 0 1 0 0 0 0 0 ENSG00000227589 chr1 3658938 3668772 - AL136528.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000227590 chr13 106663437 106663847 + ATP5MC1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227591 chr1 209661364 209724125 - AL031316.1 antisense 101930114 38 15 55 22 33 64 35 26 85 ENSG00000227592 chrX 30017160 30017881 - PIGFP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227593 chr11 94055023 94055972 - PHBP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227597 chr2 108276812 108277942 + WASF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227598 chr6 166969626 166999065 - Z94721.1 bidirectional_promoter_lncRNA 46 33 56 26 45 60 43 33 46 ENSG00000227599 chr20 42968743 42971492 + AL031676.1 antisense 101927138 0 0 0 0 0 0 0 0 0 ENSG00000227602 chr6 56331788 56332117 - AL031779.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000227604 chr13 32954057 32954401 - TOMM22P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227606 chr19 43153279 43160862 + AC005392.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227607 chr9 23632106 23632360 + SUMO2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227609 chr6 29577459 29577748 + TMEM183AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227610 chrX 107512983 107545821 - FRMPD3-AS1 antisense 100874122 0 0 0 0 0 2 2 0 0 ENSG00000227611 chr13 62321305 62322398 + LINC01074 lincRNA 106144607 0 0 0 0 0 0 0 0 0 ENSG00000227613 chr1 222261833 222262796 - QRSL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227615 chr11 74745716 74746114 - AP001324.1 processed_pseudogene 11 6 25 35 20 53 23 27 79 ENSG00000227616 chr5 132147491 132149559 - AC063976.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227617 chr2 168771953 168786961 - CERS6-AS1 processed_transcript 100861402 51 27 31 73 17 59 46 27 37 ENSG00000227619 chr9 129575409 129584556 + AL391056.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227620 chr11 67785273 67792335 + ALG1L8P unprocessed_pseudogene 0 1 0 0 0 0 0 1 0 ENSG00000227621 chr1 223856579 223857387 - PHBP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227623 chr2 103275904 103276138 + AC010881.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227624 chr16 20238972 20239247 - SNRPEP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227625 chr1 228134785 228134992 - AL359510.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227627 chr6 152983331 152990541 + AL080276.2 antisense 37 28 49 14 17 26 36 28 29 ENSG00000227629 chrY 26586642 26591601 - SLC25A15P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227630 chr1 234724042 234736720 + LINC01132 lincRNA 100506810 0 0 0 0 0 0 0 1 0 ENSG00000227632 chr2 130202312 130212628 + AC018804.1 unprocessed_pseudogene 0 1 0 1 0 1 1 8 6 ENSG00000227633 chrY 25266584 25273531 + RBMY2YP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227634 chr1 8202429 8215210 + LINC01714 lincRNA 102724539 0 0 0 0 0 0 0 0 0 ENSG00000227635 chrY 25933833 25935881 - USP9YP21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227638 chr9 88410529 88411463 - HNRNPA1P14 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000227640 chr13 94712716 94716246 + SOX21-AS1 lincRNA 100507533 0 0 0 0 0 0 0 0 0 ENSG00000227644 chr1 53073110 53073389 - HIGD1AP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227645 chrX 78763226 78763899 + RPL7P54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227646 chr7 89882353 90211635 - STEAP2-AS1 processed_transcript 100874100 0 0 0 0 0 0 0 0 0 ENSG00000227649 chrX 102806164 102806646 - MTND6P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227653 chr2 128518788 128519177 - ISCA1P6 processed_pseudogene 0 1 0 1 0 0 0 2 0 ENSG00000227657 chrX 106562774 106563404 - SERPINA7P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227658 chr7 40775558 40785217 + AC005160.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000227659 chr13 99690081 99690971 - CLYBL-AS2 antisense 100874063 0 0 0 0 0 0 0 0 0 ENSG00000227660 chr6 148955628 148964684 - UST-AS1 antisense 0 0 3 0 0 4 0 1 0 ENSG00000227661 chr2 131380153 131380913 - MTCO3P18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227663 chr20 2075555 2075822 + RPL7P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227666 chr9 94038030 94038345 + CYCSP24 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000227667 chr1 162979551 162979793 - AL392003.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227671 chr1 247189851 247210856 - AL390728.4 transcribed_unprocessed_pseudogene 635 558 777 1049 848 866 969 659 793 ENSG00000227673 chr1 155710098 155710563 - AL162734.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227674 chr13 63851197 64076044 - LINC00355 lincRNA 144766 0 0 0 0 0 0 0 0 0 ENSG00000227676 chr13 79566727 79571436 + LINC01068 lincRNA 103724388 0 0 0 0 0 0 0 0 0 ENSG00000227678 chr6 130133410 130146179 - AL355581.1 antisense 11 5 13 20 12 39 17 4 35 ENSG00000227679 chr10 38762095 38762491 - AL133173.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227680 chr2 102987323 102988565 + AC108051.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227681 chr6 147660703 147953937 + AL033504.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227682 chr2 155269633 155270134 + ATP5F1AP2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227683 chr10 45164228 45181427 - AL358394.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227684 chr1 16740280 16750968 + CROCCP4 transcribed_unprocessed_pseudogene 0 1 2 0 0 0 0 0 0 ENSG00000227685 chr17 20612912 20633234 - LINC02088 lincRNA 2 0 0 0 1 0 0 0 0 ENSG00000227687 chr1 205935128 205935768 + AL713965.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227688 chr20 36620403 36621423 + HNRNPA3P2 unprocessed_pseudogene 1 4 2 1 0 3 7 2 8 ENSG00000227689 chr17 18527557 18528461 + SRP68P2 processed_pseudogene 4 1 2 1 2 2 5 0 11 ENSG00000227692 chr2 186364598 186365128 + MED28P3 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000227693 chr20 21501395 21501968 + GSTM3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227694 chr17 61069871 61070341 + RPL23AP74 processed_pseudogene 0 2 1 1 0 9 0 1 0 ENSG00000227695 chr10 99927010 99958381 + DNMBP-AS1 antisense 17 27 47 8 13 22 11 23 12 ENSG00000227698 chr21 41874756 41877613 - AP001619.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000227700 chr1 148246169 148246685 + AC239809.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227702 chr21 41679181 41697336 + LINC00111 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227704 chr6 169725504 169738992 + AL354892.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227705 chr20 53196229 53208705 - AL391097.2 antisense 0 0 2 0 0 0 0 2 0 ENSG00000227706 chr6 67887646 67889339 - AL713998.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227707 chr3 33771963 33772295 + SDAD1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227708 chr2 153337705 153357422 + LINC01850 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227709 chr3 156175852 156176911 - AC091607.1 processed_pseudogene 0 0 1 1 0 0 0 0 0 ENSG00000227710 chr22 22168289 22168634 + AC245517.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227711 chr1 227509028 227510618 - AL451054.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227712 chr1 119260265 119327303 - AL359915.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227713 chr2 724966 731224 - AC092159.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227714 chr13 95693983 95694495 - MTND6P18 processed_pseudogene 0 1 0 0 1 0 4 1 0 ENSG00000227716 chr21 23477641 23490724 + AP000459.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227717 chr15 28553638 28561379 + AC138749.1 unprocessed_pseudogene 100132202 0 0 0 0 0 0 0 0 0 ENSG00000227718 chr2 13723048 13758152 + AC016730.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227719 chr7 8114025 8116561 + AC006042.1 antisense 6 18 17 14 16 6 8 17 12 ENSG00000227721 chr21 38894917 38895252 + RPSAP64 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227722 chr1 168317497 168376876 + AL022100.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227723 chr6 134636489 134642495 + AL596188.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227725 chr4 68038544 68039647 + GCOM2 processed_pseudogene 1 3 4 7 1 0 0 0 0 ENSG00000227726 chr11 70477277 70477592 - AP001271.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000227728 chr1 246509038 246522592 - AL356583.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227729 chr14 103940426 103942561 - RD3L protein_coding 647286 0 0 0 4 0 3 5 0 3 ENSG00000227730 chr9 5091093 5091604 + MTND6P5 unprocessed_pseudogene 4 2 5 1 2 5 2 1 4 ENSG00000227733 chr1 148159213 148255012 - AC239809.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227734 chr10 19290223 19291480 - AL590378.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227735 chr1 244598391 244598687 - CYCSP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227736 chr2 201552859 201553612 + MTCO3P16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227737 chr11 124365465 124367298 - OR8B1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227738 chr2 123762171 123763071 + AC092646.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227740 chr1 175904762 175920513 - AL513329.1 lincRNA 1 11 0 13 21 1 10 7 5 ENSG00000227741 chr1 160202199 160208869 - AL121987.2 antisense 729867 10 22 15 21 36 46 31 16 17 ENSG00000227742 chr1 51561866 51594897 - CALR4P transcribed_unitary_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000227743 chr7 121643334 121686363 - AC004875.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227744 chr2 238919302 238926269 - LINC01940 lincRNA 401039 0 0 0 0 0 0 0 0 0 ENSG00000227745 chr2 132132856 132139429 - AC098826.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227747 chr1 198949016 198949805 + AC096631.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227748 chr6 146859181 146863081 + AL138916.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227751 chr1 17406760 17407382 + AC004824.1 antisense 6 14 45 10 6 54 16 19 17 ENSG00000227753 chr8 86016819 86017126 + AC023194.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227755 chr22 23446598 23460833 + AP000344.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227757 chr21 32913649 33071104 - AP000282.1 antisense 15 34 121 0 0 0 0 4 7 ENSG00000227758 chr6 29748289 29748513 + AL645939.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227759 chr9 128650998 128652145 + VTI1BP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227760 chr12 14192002 14192284 + AC135001.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227762 chr5 99532628 99534611 + GUSBP8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227764 chr1 211639695 211654581 + LINC01693 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227765 chr4 184299129 184299640 - MYL12BP2 processed_pseudogene 1 0 0 2 0 0 0 0 0 ENSG00000227766 chr6 29942075 29943067 - AL671277.1 unprocessed_pseudogene 8573 1801 5710 4300 1381 3303 5250 1340 3152 ENSG00000227769 chr2 215004782 215085488 + AC072062.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227770 chr2 38231568 38232317 + RPL7P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227773 chr1 155396010 155396978 - ASH1L-IT1 sense_intronic 3 2 0 5 0 0 1 0 0 ENSG00000227775 chr1 1724512 1737251 + AL031282.1 transcribed_processed_pseudogene 72 61 84 86 95 104 127 47 44 ENSG00000227776 chr1 167519536 167520586 + AKR1D1P1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000227777 chr1 168542737 168543354 + AL031736.1 processed_pseudogene 0 0 2 0 0 0 0 0 7 ENSG00000227779 chrX 141380823 141381107 + AC234779.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227782 chr17 16040472 16041273 + AC002553.1 antisense 46 52 74 67 78 51 43 37 43 ENSG00000227784 chr13 18734080 18734896 + ZNF965P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227785 chr7 85636013 85636344 - AC092013.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227788 chr2 120211727 120212862 + MTCO3P43 processed_pseudogene 0 3 1 0 4 6 3 0 0 ENSG00000227789 chr2 82818131 82819264 + MTCYBP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227790 chr17 15829369 15908632 + SPECC1P1 transcribed_unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000227791 chr2 64665607 64666064 + AC007365.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227795 chr3 29797652 29797825 - MTND4LP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227799 chr2 55224280 55225908 + AC012358.2 processed_pseudogene 0 2 1 4 1 0 4 4 13 ENSG00000227800 chr14 105894508 105894523 - IGHD4-17 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000227802 chr2 233742750 233744015 - DNAJB3 transcribed_processed_pseudogene 414061 0 0 0 0 0 0 0 0 0 ENSG00000227803 chr6 20212087 20317739 + AL158198.1 antisense 8 11 16 5 15 14 6 13 21 ENSG00000227805 chr10 95999778 96000243 - RPL21P90 processed_pseudogene 0 0 2 0 2 2 2 0 0 ENSG00000227806 chr11 55903341 55904278 - OR5W1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227809 chr9 74371531 74383530 + AL355674.1 lincRNA 101927358 0 0 0 0 0 0 0 0 0 ENSG00000227811 chr1 111739841 111747798 + INKA2-AS1 bidirectional_promoter_lncRNA 33 42 25 8 36 20 31 40 16 ENSG00000227813 chr22 31890344 31891434 - Z82190.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227814 chrX 119379712 119380104 + MRPS17P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227815 chr1 176272483 176273402 + AL359265.1 unprocessed_pseudogene 1 1 3 1 0 0 2 2 0 ENSG00000227817 chr2 131328176 131330857 - ARHGAP42P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227818 chr1 162039016 162039567 + AL590408.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227824 chr2 215869923 215870518 + AC122136.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227825 chr12 98453835 98457145 - SLC9A7P1 transcribed_processed_pseudogene 121456 1 1 5 0 4 0 1 3 0 ENSG00000227827 chr16 16356224 16377507 + AC138969.1 unprocessed_pseudogene 0 1 0 0 0 0 0 2 0 ENSG00000227830 chrY 8413037 8414054 - TRIM60P3Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227832 chr1 108502358 108503455 + ST13P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227834 chr11 67651576 67653404 - AP003385.1 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000227835 chr9 2907073 3053408 - CARM1P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227836 chr5 96942299 96943184 + AC008850.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000227837 chrY 24691791 24692932 + TRIM60P11Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227838 chr22 27676559 27714970 - AL121885.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227840 chr21 30806932 30807119 - KRTAP8-3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227841 chr2 201556892 201558265 + MTND5P31 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227842 chr2 111717508 111717837 + AC093166.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227845 chr9 125372325 125372766 - AL627223.1 processed_pseudogene 0 1 0 0 1 0 5 3 0 ENSG00000227846 chr2 233603553 233604401 + UGT1A11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227847 chr7 125345825 125346197 + AC010099.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227848 chr13 48001389 48002552 + SUCLA2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227850 chr1 105698039 105698218 + SEPT2P1 processed_pseudogene 0 0 0 0 0 0 1 2 0 ENSG00000227851 chr10 111349939 111352103 - AC021035.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227852 chr9 35592786 35592951 + RPS29P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227854 chr1 239052748 239052903 - AL590135.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227855 chr7 29650227 29742594 + DPY19L2P3 transcribed_unprocessed_pseudogene 442524 3 4 4 3 2 7 0 0 0 ENSG00000227857 chr1 46134531 46139081 + AL358075.2 antisense 101929626 0 0 0 0 0 0 0 0 0 ENSG00000227860 chr1 237949736 237951536 - MTND5P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227862 chr13 80619098 80620067 - HNRNPA1P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227863 chr7 89443974 89494262 + AC002383.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000227864 chrX 119186442 119186829 - ARL5AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227867 chrY 25991241 25991572 - ELOCP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227868 chr1 23010834 23015850 - TEX46 protein_coding 729059 0 0 0 0 0 0 0 0 0 ENSG00000227869 chr7 125431347 125466401 + AC073486.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227871 chrY 23945927 23952293 - USP9YP12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227873 chrX 17769005 17769398 - Z93242.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227874 chr21 13665868 13667546 - GRAMD4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227875 chr1 12080293 12080547 - RPL23AP89 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227877 chr10 59736692 59756041 - MRLN protein_coding This gene encodes a small peptide that shares structural similarity to the small peptides sarcolipin and phospholamban, which are key regulators of sarcoplasmic reticulum Ca(2+)-ATPases (SERCAs). This protein is thought to have a similar function to these peptides, regulating Ca(2+) reuptake in the sarcoplasmic reticulum by inhibiting the Ca(2+) pump activity of SERCAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2015]. 100507027 GO:0033017, GO:0016021, sarcoplasmic reticulum membrane, integral component of membrane, GO:0004857, enzyme inhibitor activity, GO:1902081, GO:0043086, GO:0009611, negative regulation of calcium ion import into sarcoplasmic reticulum, negative regulation of catalytic activity, response to wounding, 0 0 0 0 0 0 0 0 0 ENSG00000227878 chr2 196063312 196063963 - AC114760.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000227879 chr13 19201637 19227432 - PSPC1P1 unprocessed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000227880 chr22 27457247 27460060 - AL050402.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227881 chrX 115664895 115666133 + ASS1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227882 chr13 26234213 26237129 + THAP12P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227883 chr1 47550196 47550753 + ATP6V0E1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227885 chr6 53740749 53794274 - AL590652.1 processed_transcript 0 0 0 0 0 0 3 0 0 ENSG00000227887 chr1 208697369 208697698 - RPS26P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227888 chr8 12362019 12388296 + FAM66A lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227890 chr2 202179297 202179971 + PSMA2P3 processed_pseudogene 1 0 2 0 0 0 2 2 0 ENSG00000227892 chr11 7745990 7746906 + OR5P4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227893 chr13 23498796 23502874 + LINC00352 lincRNA 0 0 0 4 0 0 0 0 0 ENSG00000227895 chr22 34997719 35002862 - ISX-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227896 chr10 86521945 86525101 + AL731569.1 antisense 1 0 0 4 0 10 0 4 3 ENSG00000227902 chr2 146879909 146898218 + AC062032.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227905 chr10 88048135 88049823 - MED6P1 processed_pseudogene 0 0 2 0 0 2 0 0 0 ENSG00000227906 chr20 10021978 10368776 - SNAP25-AS1 antisense 0 0 0 2 0 4 7 1 0 ENSG00000227907 chr1 167052551 167058542 + AL158837.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227908 chr5 55995167 56003649 + FLJ31104 antisense 441072 1 0 5 0 2 1 3 3 2 ENSG00000227910 chr7 63924787 63926306 - AC092634.4 transcribed_processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000227911 chr13 33333679 33335277 - LINC02344 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227912 chr10 2166332 2169460 + AL441943.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227913 chr6 162568379 162569728 + KRT8P44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227914 chr9 673478 685555 - AL136979.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227915 chrY 23678504 23678835 + ELOCP16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227917 chr9 100804 102941 - AL449043.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227919 chr17 18452955 18453062 + AL353997.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227920 chr6 37545145 37550860 + AL353597.1 lincRNA 2 4 1 11 2 6 7 5 13 ENSG00000227922 chr13 77659413 77659664 + SPTLC1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227923 chr7 63354033 63354365 + AC006455.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227924 chr9 42497704 42499134 - RBPJP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227925 chr1 221827666 221840666 - LINC01655 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227927 chr20 14554384 14636524 + MACROD2-IT1 sense_intronic 140848 0 0 0 0 0 0 0 0 0 ENSG00000227929 chr3 9216895 9219508 + SRGAP3-AS3 antisense 100288831 0 0 0 0 0 0 0 0 0 ENSG00000227930 chr7 23891704 23897335 - AC003087.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227932 chr10 26664206 26697295 - SELENOOLP transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227933 chr9 35646270 35647099 + AL357874.1 antisense 2 1 2 1 0 0 1 0 1 ENSG00000227934 chr1 231021611 231022183 + AL732414.1 processed_pseudogene 23 6 9 5 0 0 3 9 4 ENSG00000227935 chr1 57386576 57387450 + AL390243.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227937 chr1 81080790 81081171 + MTND2P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227938 chr2 28448167 28450184 - AC104695.1 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000227939 chr6 31280317 31281519 + RPL3P2 processed_pseudogene 0 0 0 1 1 2 0 0 0 ENSG00000227940 chr1 209325456 209328532 + LINC01696 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227941 chr1 162541332 162541628 - UQCRBP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227942 chrX 65550898 65552421 - FRMD8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227945 chr6 128027886 128085248 + AL590006.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227946 chr2 206084605 206086564 + AC007383.2 lincRNA 36 16 27 13 11 38 14 15 17 ENSG00000227947 chr1 47688463 47703383 + LINC01738 lincRNA 107984953 0 0 0 0 0 0 0 0 0 ENSG00000227948 chr7 111411319 111411883 + AC003989.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227949 chrY 14941547 14941750 - CYCSP46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227950 chr1 6834333 6834618 - AL590128.1 processed_pseudogene 0 4 0 0 0 0 6 1 1 ENSG00000227952 chr13 72460132 72460329 - RPL18AP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227953 chr1 246776013 246792385 + LINC01341 processed_transcript 0 4 1 0 1 1 4 2 6 ENSG00000227954 chr6 133502252 133892802 - TARID antisense 100507308 0 0 0 0 0 0 0 0 0 ENSG00000227958 chr9 135204722 135237597 - AL390778.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227959 chr1 16155211 16157329 + AL451042.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000227960 chr1 81505099 81506296 + AL138799.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000227962 chr1 235336806 235337087 + AL391994.1 processed_pseudogene 5 3 2 0 0 0 0 1 4 ENSG00000227963 chr1 110286375 110339171 - RBM15-AS1 antisense 440600 5 1 2 2 3 16 5 1 6 ENSG00000227964 chr20 51831797 51862912 - LINC01429 lincRNA 101927678 0 0 0 0 0 0 0 0 0 ENSG00000227965 chr7 16888621 16888885 + AC098592.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227968 chr7 108994031 108995029 - BUB3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227969 chr13 67831876 67832827 - NPM1P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227970 chr1 114837227 114851453 + NR1H5P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227971 chr3 189645327 189645466 - AC078809.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227972 chr10 52411135 52413492 + THAP12P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227973 chr15 43875849 43876244 - PIN4P1 processed_pseudogene 1 0 3 4 10 0 0 0 17 ENSG00000227979 chr7 88749470 88749694 + AC002127.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227981 chr2 215579407 215582635 - AC012668.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000227982 chr7 84528122 84528830 - RPL7P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227983 chr13 91023732 91023954 - BRK1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227986 chr7 64355078 64356199 + TRIM60P18 unprocessed_pseudogene 2 3 1 0 1 7 13 5 0 ENSG00000227987 chr2 98346995 98351140 + AC092675.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000227988 chrX 38395369 38395895 - TDGF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227989 chrY 21555852 21558070 - AC010141.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227992 chr2 111203964 111206215 - AC108463.1 processed_pseudogene 2 6 2 0 6 1 24 1 2 ENSG00000227994 chr1 44172506 44172719 - AL035417.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227995 chr10 93881293 93881938 - RAB11AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000227999 chr21 44473723 44475097 - MTND5P1 processed_pseudogene 1 0 5 0 1 0 0 1 0 ENSG00000228000 chr17 18311904 18312651 + RPL7AP65 processed_pseudogene 0 1 0 50 81 62 32 26 59 ENSG00000228002 chr13 76984868 76987943 + DHX9P1 processed_pseudogene 2 2 1 0 3 16 0 1 2 ENSG00000228004 chrX 57933837 57934803 - MYCLP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228005 chr7 50141540 50142823 - AC020743.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228007 chr17 75338827 75339147 + AC011933.1 processed_pseudogene 0 2 1 6 5 5 5 6 4 ENSG00000228008 chr3 49903845 49916937 + AC105935.1 antisense 1 1 0 2 3 0 0 0 0 ENSG00000228010 chr7 6663974 6708901 + AC073343.2 antisense 4 2 4 3 1 5 2 2 0 ENSG00000228013 chr1 154402328 154406564 - IL6R-AS1 antisense 101928101 5 3 2 46 101 37 24 25 49 ENSG00000228014 chr7 64469185 64470653 + ZNF680P1 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000228015 chr7 33128988 33129143 - AC074338.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228016 chr2 172677141 172736206 - RAPGEF4-AS1 antisense 91149 0 0 0 0 0 0 0 0 0 ENSG00000228019 chr7 67307605 67308356 - AC006480.1 unprocessed_pseudogene 1 1 1 0 5 0 0 3 0 ENSG00000228020 chr1 191146025 191146961 - HNRNPA1P46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228021 chr10 125683229 125709677 + AL158835.1 processed_transcript 283038 0 0 0 2 2 0 0 0 3 ENSG00000228022 chr6 30766825 30792250 + HCG20 lincRNA 105375013 0 0 0 0 0 0 0 0 0 ENSG00000228024 chr9 73042745 73056528 + CYP1D1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228027 chr10 11010164 11011119 - AL136369.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228028 chr3 196250542 196251654 + AC069257.1 antisense 11 10 8 5 8 1 11 13 0 ENSG00000228030 chr7 158719730 158720161 + AC019084.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000228031 chr7 137344930 137354483 - AC078842.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228033 chr2 52722677 52910020 - AC010967.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228034 chr2 70803157 70803426 + HMGN2P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228035 chr1 115283034 115368072 + NGF-AS1 antisense 112840934 0 0 0 0 0 0 0 0 0 ENSG00000228036 chr13 37993085 37994720 - HSPD1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228037 chr1 2581560 2584533 + AL139246.3 lincRNA 0 2 0 0 2 0 0 4 1 ENSG00000228038 chr9 97093694 97094638 - VN1R51P processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000228039 chr22 23963780 23964374 + AC253536.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228040 chr1 112890767 112890922 - AL390729.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228041 chrX 82497669 82497924 - AL031313.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228042 chrX 110636841 110637672 + AL512882.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228043 chr2 138418284 138501698 - AC114763.1 lincRNA 3 2 0 0 2 0 5 4 8 ENSG00000228044 chr1 234646289 234683176 + AL160408.1 lincRNA 101927787 0 2 0 2 5 0 2 0 0 ENSG00000228045 chr22 17518676 17519029 - DNAJA1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228046 chr9 82427350 82428025 - MTCO3P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228048 chr10 55506219 55513217 + AL355314.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228049 chr7 102665368 102671629 - POLR2J2 protein_coding This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]. 246721 GO:0005665, RNA polymerase II, core complex, GO:0046983, GO:0003899, GO:0003677, GO:0001055, protein dimerization activity, DNA-directed 5'-3' RNA polymerase activity, DNA binding, RNA polymerase II activity, GO:0006366, transcription by RNA polymerase II, 16 20 14 22 16 12 27 15 17 ENSG00000228050 chr22 22223187 22224566 - TOP3BP1 processed_pseudogene 0 1 0 0 3 0 0 1 1 ENSG00000228051 chrX 80560146 80562054 + AL512504.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228053 chr9 110024881 110025358 - AL158823.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228054 chr1 109046828 109047482 + RANP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228055 chr10 87397023 87424792 - LINC00864 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228056 chr1 63843196 63843685 - CFL1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228057 chr1 97545701 97546958 + SEC63P1 processed_pseudogene 15 9 6 10 21 16 8 9 17 ENSG00000228058 chr1 230002730 230007162 + LINC01736 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228060 chr1 39565067 39573203 + AL365277.1 antisense 18 18 47 70 30 84 69 23 62 ENSG00000228061 chr11 31618124 31767953 - AC131571.1 antisense 2 1 1 6 3 5 1 2 5 ENSG00000228063 chr1 219086602 219173961 - LYPLAL1-DT antisense 13 11 11 6 9 2 11 11 10 ENSG00000228064 chr2 150982506 151003474 + AC023469.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228065 chr10 65570338 65768835 + LINC01515 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228067 chr1 212545694 212556065 + LINC01740 lincRNA 101929565 0 0 0 2 6 4 11 5 0 ENSG00000228069 chr9 92109013 92110095 + MTCO3P29 unprocessed_pseudogene 6 13 3 8 10 30 6 5 2 ENSG00000228071 chr16 17932720 17933275 + RPL7P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228072 chr9 33512959 33514773 - AL139008.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228073 chr2 189095063 189096158 + AC133106.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228074 chr13 87219004 87219269 + UBBP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228075 chr18 57147062 57150300 + BOD1L2 protein_coding 284257 GO:0005876, GO:0005813, GO:0005737, GO:0000940, GO:0000922, spindle microtubule, centrosome, cytoplasm, condensed chromosome outer kinetochore, spindle pole, GO:0051721, GO:0005515, GO:0004864, protein phosphatase 2A binding, protein binding, protein phosphatase inhibitor activity, GO:0051301, GO:0032515, GO:0007049, cell division, negative regulation of phosphoprotein phosphatase activity, cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000228076 chr1 108766841 108767584 - AL591719.1 processed_pseudogene 1 7 3 0 5 5 4 4 10 ENSG00000228078 chr6 29934101 29934286 + HLA-U unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228079 chr2 64086353 64088246 - AC012368.2 lincRNA 39 31 50 45 90 37 73 71 67 ENSG00000228081 chr1 209173014 209173375 + AC092810.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228082 chr6 100427118 100437484 + Z86062.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228083 chr9 21239002 21239991 - IFNA14 protein_coding 3448 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005132, GO:0005126, GO:0005125, protein binding, type I interferon receptor binding, cytokine receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000228084 chr1 99968383 99969864 - AC118553.1 antisense 0 0 1 0 0 1 0 0 0 ENSG00000228085 chr7 50843578 50843732 - AC009296.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228086 chr1 100462399 100485997 - AL589990.1 antisense 33 16 45 16 25 37 32 16 15 ENSG00000228089 chrX 131803312 131803741 - PNKDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228092 chr10 77433572 77433782 - COX6CP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228095 chr9 84604111 84604425 - AL354692.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228097 chr9 5099560 5100229 + MTATP6P11 unprocessed_pseudogene 2 2 3 5 7 2 11 3 3 ENSG00000228098 chr2 134816362 134816589 + AC110620.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228100 chr2 46392297 46394167 - LINC01820 lincRNA 105374582 0 0 0 0 0 0 0 0 0 ENSG00000228105 chr1 20243095 20244655 + LINC01757 lincRNA 105376827 0 0 0 0 0 0 0 0 0 ENSG00000228106 chr1 222815022 222837384 + AL392172.1 lincRNA 2 2 4 6 5 1 1 2 2 ENSG00000228107 chr21 36360630 36362040 + AP000692.1 sense_overlapping 22 16 44 15 31 25 37 21 21 ENSG00000228108 chr2 54516048 54540697 - AC092839.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228109 chr3 196999460 197004744 + MELTF-AS1 antisense 100507057 0 0 1 5 2 2 3 1 3 ENSG00000228110 chr1 210265636 210267241 - ST13P19 processed_pseudogene 1 1 5 10 1 4 2 3 0 ENSG00000228111 chr2 208214724 208222625 - TPT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228112 chr3 33727250 33727604 - AC112220.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228113 chr7 88219359 88304367 + AC003991.1 antisense 1995 1725 3177 446 1221 970 640 938 971 ENSG00000228115 chr9 487774 495610 + AL161725.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000228118 chr17 71620978 71621436 + MYL6P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228120 chr21 43159066 43162277 - AP001631.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228121 chr1 58999676 59000494 + PHBP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228122 chr22 16876218 16876421 - MTND1P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228123 chr9 82431889 82432905 - AL162726.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228124 chr6 89673469 89675783 + AL096678.1 antisense 1 4 1 0 0 2 1 2 0 ENSG00000228125 chrX 68132868 68133437 + AKIRIN1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228126 chr1 150515757 150518032 + FALEC lincRNA 100874054 0 0 0 0 0 0 0 0 0 ENSG00000228127 chr1 115919350 115931561 + LINC01649 lincRNA 0 2 0 1 0 0 0 1 4 ENSG00000228131 chr14 105910410 105910427 - IGHD6-6 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000228132 chr9 6276640 6276974 + AL360221.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228133 chr17 2017716 2020706 + AC099684.1 antisense 105371485 0 0 0 0 0 0 0 0 0 ENSG00000228134 chr2 142543418 142543975 + UBE2V1P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228135 chr2 218900811 218930636 - LINC01494 antisense 101928537 0 0 0 0 0 0 0 0 0 ENSG00000228136 chr9 40130921 40153147 + AL773545.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228137 chr21 46246890 46247682 + AP001469.2 antisense 0 0 1 6 0 7 6 2 0 ENSG00000228139 chrX 120117642 120119700 - LINC01402 lincRNA 104797536 0 0 1 0 0 0 0 0 0 ENSG00000228140 chr1 15402979 15409433 - AL031283.1 lincRNA 24 24 37 27 19 42 22 18 43 ENSG00000228141 chr15 82710471 82714029 - AC105339.1 transcribed_unitary_pseudogene 338963 0 1 0 0 0 0 0 0 0 ENSG00000228142 chr9 95650154 95715718 + AL354861.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228143 chr9 106722350 106722930 + AL512649.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000228144 chr12 66123917 66169985 - AC078927.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000228146 chr16 3144015 3149963 + CASP16P transcribed_unitary_pseudogene 197350 0 0 0 4 0 7 0 0 0 ENSG00000228149 chr21 36168970 36170180 - RPL3P1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000228150 chr1 9942923 9949974 + AL357140.2 sense_intronic 1 0 2 0 1 4 0 1 2 ENSG00000228151 chr7 149398204 149401456 + AC004941.1 antisense 101928733 0 0 0 0 0 0 0 0 0 ENSG00000228153 chr1 204663872 204664613 + AL161793.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228154 chr4 25622777 25623601 + AC092436.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228156 chr20 32581963 32593900 + AL133343.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228157 chr17 19092974 19096837 + AC007952.2 processed_transcript 0 0 0 1 0 1 0 0 5 ENSG00000228158 chrX 65408084 65408672 + TLE1P1 processed_pseudogene 0 0 1 1 0 0 0 0 1 ENSG00000228159 chr21 13546033 13558461 + LINC01674 lincRNA 102724188 0 0 0 0 0 0 0 0 0 ENSG00000228160 chrX 69569669 69570357 - AL158069.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228161 chr22 22046430 22046591 + AC245452.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228162 chr2 234438328 234462127 + AC097713.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228165 chr9 4850299 4850373 - AL158147.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228166 chr9 5094139 5095014 + MTND1P11 unprocessed_pseudogene 8 5 1 1 12 11 2 6 4 ENSG00000228167 chr1 194718795 194719236 + AL353072.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228168 chr3 39334979 39335939 + HNRNPA1P21 processed_pseudogene 1 0 3 3 0 0 0 0 0 ENSG00000228169 chr10 114690143 114690634 - PPIAP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228170 chr6 3138394 3153062 - AL031963.1 antisense 1 0 0 1 0 2 2 3 0 ENSG00000228171 chr3 23389661 23389909 - AC121251.1 unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000228172 chr1 25816749 25820797 - AL020996.1 antisense 31 28 37 41 25 58 37 14 17 ENSG00000228173 chr7 48660575 48663305 - AC091770.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228174 chr9 97512706 97517836 - AL162385.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228175 chr1 89993593 89994321 - GEMIN8P4 processed_pseudogene 1 0 1 0 0 0 0 0 0 ENSG00000228176 chr1 29708851 29709547 - AC092265.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228181 chr10 15171036 15171278 - AL590365.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228182 chrX 62843697 62844306 + MTND2P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228184 chr21 13525599 13528579 + SNX19P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228187 chr1 77194825 77195395 + AC093433.1 processed_pseudogene 0 0 0 0 0 2 1 0 0 ENSG00000228189 chr9 88627189 88652160 - AL592486.1 lincRNA 286238 0 0 0 0 0 0 0 0 0 ENSG00000228190 chr1 199371877 199372297 + RPL23AP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228191 chr1 179271116 179271266 - AL512326.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228192 chr1 42834681 42846422 - AL512353.1 antisense 16 23 23 19 42 28 34 22 25 ENSG00000228193 chrY 18787750 18788080 + ELOCP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228194 chr22 33014980 33015461 + Z83846.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228195 chr10 116749905 116751261 + RPL5P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228196 chr1 178746683 178747754 - PTPN2P1 processed_pseudogene 0 1 0 0 4 0 1 0 0 ENSG00000228198 chr1 248197265 248212925 + OR2M3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 127062 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000228201 chr16 648473 649200 - AL022341.1 antisense 0 1 3 4 0 0 1 0 0 ENSG00000228203 chr2 6912277 6918709 - RNF144A-AS1 processed_transcript 386597 8 3 1 4 4 15 4 2 4 ENSG00000228204 chr7 50866747 51022990 + AC004830.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228205 chr3 184149704 184150435 + AC131235.1 processed_pseudogene 1 2 0 1 1 1 2 2 1 ENSG00000228206 chr2 225698254 225698539 + AC016717.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228207 chrY 8901203 8903276 - AC007967.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228208 chr1 218510096 218525978 + C1orf143 lincRNA 440714 0 0 0 0 0 0 0 0 0 ENSG00000228209 chr2 76258034 76258897 - AC073091.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228210 chr20 4590993 4591300 - AL121916.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228211 chr7 123814139 123829252 + HYAL6P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228212 chr5 37209364 37212381 + OFD1P17 processed_pseudogene 1 1 0 3 0 7 0 1 0 ENSG00000228213 chr3 173910498 173920796 - NLGN1-AS1 antisense 100874010 0 0 0 0 0 0 0 0 0 ENSG00000228215 chr1 191875495 192011260 + AL954650.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228216 chr9 90957260 90965393 - AL355607.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228217 chr1 117778087 117778506 - PNRC2P1 processed_pseudogene 1 0 2 2 0 4 1 1 2 ENSG00000228218 chr17 76225751 76226806 - ATF4P3 processed_pseudogene 5 5 5 17 11 14 14 8 6 ENSG00000228219 chr10 21110682 21113388 + NPM1P30 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000228221 chr3 177441921 177752305 + LINC00578 lincRNA 100505566 0 0 0 1 0 0 0 0 0 ENSG00000228222 chr2 167293171 167558333 + AC073050.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228223 chr6 26521709 26527404 + HCG11 lincRNA 493812 37 36 41 26 43 37 19 43 45 ENSG00000228224 chr8 101361794 101372707 + NACA4P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228225 chr2 84031140 84032358 + AC016908.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228226 chr2 228683537 228684580 - AC012070.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228229 chr1 13324039 13324518 + AC243961.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228231 chr6 54365335 54369971 - AL589946.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228232 chrX 39787132 39788136 - GAPDHP1 processed_pseudogene 16 15 17 10 9 31 9 10 3 ENSG00000228234 chr20 37602852 37603185 - GLRXP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228235 chr21 46052596 46053105 + AP001476.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228236 chr2 149068596 149068910 - TXNP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228237 chr1 46674036 46692098 + EFCAB14-AS1 antisense 100130197 43 52 60 23 15 18 21 16 32 ENSG00000228238 chr1 186578279 186579299 + AL096803.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228239 chr1 157232231 157237136 - AL138900.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228240 chrY 22851584 22852715 + TTTY17A lincRNA There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]. 252949 0 0 0 0 0 0 0 0 0 ENSG00000228241 chr13 85968999 85969533 + MOB1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228242 chr3 14144637 14165978 + AC093495.1 antisense 655 719 669 521 828 638 510 573 584 ENSG00000228247 chr1 217850403 217850633 - UBBP2 processed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000228248 chr9 77580245 77580628 + NUTF2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228251 chr2 112590796 112591939 + AC012442.1 lincRNA 1 9 1 0 11 6 0 8 4 ENSG00000228252 chr3 130212823 130273806 + COL6A4P2 transcribed_unitary_pseudogene 1 7 0 0 0 2 3 0 2 ENSG00000228253 chrM 8366 8572 + MT-ATP8 protein_coding 4509 GO:0016021, GO:0005753, GO:0005753, GO:0005743, GO:0000276, integral component of membrane, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, proton-transporting ATP synthase activity, rotational mechanism, GO:0042776, GO:0042776, GO:0042407, GO:0006754, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP biosynthetic process, 42 19 12 133 59 31 70 28 31 ENSG00000228255 chr1 213731416 213794587 + AC096639.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228257 chrY 21531839 21534011 - AC010141.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228259 chr5 179651284 179652457 + AC136604.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228261 chr10 104323369 104327004 + AL162742.1 lincRNA 31 16 44 98 135 268 252 203 332 ENSG00000228262 chr2 33706886 34738231 + LINC01320 lincRNA 104355288 0 0 0 0 0 0 0 0 0 ENSG00000228264 chr1 154414369 154415137 - PSMD8P1 processed_pseudogene 1 11 14 11 9 20 17 9 15 ENSG00000228271 chr3 194276682 194287368 + LINC02048 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228272 chr2 84315108 84350774 + AC106874.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228274 chr22 38667585 38681820 - AL021707.2 antisense 13 19 15 7 4 26 10 10 15 ENSG00000228275 chrX 101622983 101624164 - ARMCX3-AS1 antisense 40 74 95 144 131 164 143 87 124 ENSG00000228277 chr4 73710302 73714527 + AC112518.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228278 chr9 114329869 114333252 + ORM2 protein_coding This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]. 5005 GO:0072562, GO:0070062, GO:0062023, GO:0035580, GO:0035578, GO:0031093, GO:0005615, GO:0005615, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, specific granule lumen, azurophil granule lumen, platelet alpha granule lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0043312, GO:0032760, GO:0032732, GO:0032731, GO:0006953, GO:0002682, GO:0002576, neutrophil degranulation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 production, positive regulation of interleukin-1 beta production, acute-phase response, regulation of immune system process, platelet degranulation, 17 19 38 50 61 78 66 39 33 ENSG00000228280 chr10 75742740 75743755 + AL731568.1 sense_intronic 0 0 0 0 1 0 0 0 0 ENSG00000228283 chr6 146802359 146803824 - KATNBL1P6 transcribed_processed_pseudogene 25 18 42 28 20 23 28 19 27 ENSG00000228285 chr6 33365548 33366243 - LYPLA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228286 chr11 72249856 72251288 - AP000593.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228288 chr1 202810954 202812156 + PCAT6 antisense 100506696 1 1 0 0 3 1 5 7 5 ENSG00000228289 chr1 163769339 163769691 - AL355862.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228290 chr6 84687712 84709578 + TBX18-AS1 antisense 102724201 0 0 0 0 0 0 0 0 0 ENSG00000228291 chr10 5207169 5207742 + ARL4AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228292 chr9 37205112 37205368 - AL512604.1 processed_pseudogene 0 0 2 0 3 0 0 0 1 ENSG00000228293 chr20 2664352 2665874 + AL049712.1 antisense 0 0 0 1 3 2 1 3 0 ENSG00000228294 chr14 19301704 19316914 + BMS1P17 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228295 chr13 73564244 73588070 + LINC00392 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228296 chrY 25063083 25099892 - TTTY4C lincRNA There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]. 474150 0 0 0 0 0 0 0 0 0 ENSG00000228300 chr19 1275438 1279249 + C19orf24 protein_coding 55009 GO:0016021, GO:0005737, GO:0005576, GO:0005576, integral component of membrane, cytoplasm, extracellular region, extracellular region, 41 41 39 222 211 148 233 193 138 ENSG00000228301 chrX 93573834 93574579 + RPL7P55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228302 chr10 12244751 12247845 - AL512770.1 antisense 219 178 180 209 321 292 179 234 240 ENSG00000228303 chr7 56638943 56650696 - AC095038.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228304 chr14 19847367 19848263 + OR4K6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228305 chr2 63622178 63622831 - AC016734.1 processed_pseudogene 34 21 50 2 14 14 4 12 8 ENSG00000228307 chr9 35962195 36014623 + OR2S1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228308 chr3 176814155 176817001 - LINC01209 lincRNA 101928684 0 0 0 0 0 0 0 0 0 ENSG00000228309 chr1 185558372 185628527 - LINC01350 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228312 chr10 15093263 15093611 - GAPDHP45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228314 chr21 13843133 13848364 - CYP4F29P transcribed_unprocessed_pseudogene 54055 1 3 43 14 2 78 7 1 33 ENSG00000228315 chr22 23638487 23717356 - GUSBP11 processed_transcript This transcribed pseudogene is similar to two functional genes. The 5' portion of the pseudogene is related to glucuronidase, beta, and the 3' portion is related to immunoglobulin lambda-like polypeptide 1. [provided by RefSeq, Jul 2011]. 91316 3 1 4 4 6 9 0 4 5 ENSG00000228316 chrX 102798396 102799560 + MTATP6P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228317 chr9 105554035 105558029 - AL158070.1 antisense 105376199 0 0 0 0 0 0 3 0 0 ENSG00000228318 chr21 41441056 41445708 - AP001610.1 antisense 252 158 377 188 181 290 230 147 241 ENSG00000228319 chr13 56214373 56216942 + SPATA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228322 chr9 4299390 4306046 + AL162419.1 antisense 3 0 0 0 0 0 0 0 0 ENSG00000228323 chr19 53854581 53869107 - AC008440.1 antisense 8 9 7 15 28 43 3 13 23 ENSG00000228325 chr2 90234812 90235370 + IGKV3D-7 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000228327 chr1 725885 778626 - AL669831.1 transcribed_unprocessed_pseudogene 152 195 137 125 212 381 202 143 194 ENSG00000228328 chrX 68070520 68071767 - AL158201.1 processed_pseudogene 0 0 1 0 2 0 1 0 0 ENSG00000228329 chr2 68832816 68837192 - LINC01890 lincRNA 11 32 14 32 52 53 34 34 32 ENSG00000228330 chr10 13142185 13142977 - AL355355.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228331 chr17 19496943 19497528 + RPL17P43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228334 chr7 3083252 3086421 - AC024028.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228335 chr7 99442890 99443496 - AC073063.1 processed_pseudogene 1 4 3 3 4 0 5 4 3 ENSG00000228336 chr1 247770169 247779524 + OR9H1P polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228337 chr3 50685551 50685791 - PPIAP69 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228338 chr1 12822686 12823159 - LINC01784 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228339 chr10 20350049 20351100 + AMD1P1 processed_pseudogene 2 5 0 1 9 5 4 2 0 ENSG00000228340 chr20 60087840 60527458 + MIR646HG lincRNA 284757 55 107 90 49 93 122 85 76 125 ENSG00000228341 chr7 107450083 107450362 + AC002381.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228343 chrX 48579774 48581157 - AC115618.2 antisense 7 17 21 21 17 8 12 3 19 ENSG00000228345 chrX 27854323 27855353 + AC112492.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228347 chr1 104153306 104153830 - FTLP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228348 chr1 35122022 35122484 + EFCAB14P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228349 chr21 39491544 39491898 - RPS26P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228350 chr3 48663776 48669174 + LINC02585 antisense 102724368 0 0 0 0 0 1 0 1 0 ENSG00000228351 chr3 8079322 8125538 + AC018832.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228352 chr9 34084332 34096225 + AL354989.1 antisense 4 7 5 11 22 6 22 13 6 ENSG00000228353 chr10 3767915 3768751 + AL450322.1 antisense 0 0 2 1 0 0 3 3 2 ENSG00000228354 chrX 52655207 52657254 + AL450023.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228355 chr21 45378201 45379635 - BX322559.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228358 chr4 117360625 117372852 + LINC02263 lincRNA 105377390 0 0 0 0 0 0 0 0 0 ENSG00000228360 chr7 139227537 139227828 - AC009220.1 processed_pseudogene 0 0 0 0 3 0 1 0 0 ENSG00000228361 chr6 168229732 168240715 + AL606970.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228363 chr2 86562070 86618766 + AC015971.1 antisense 617 748 759 847 1063 1333 1039 925 1073 ENSG00000228364 chr6 29076573 29077168 - SAR1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228365 chr6 2916894 2917733 + AL133351.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228366 chr9 105710290 105710781 - AL592437.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000228367 chr5 75920670 75921660 - AC108120.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228368 chr7 116965846 116967472 - AC106873.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228369 chr1 52050918 52052683 + TXNDC12-AS1 antisense 104355143 0 5 0 1 3 0 1 0 0 ENSG00000228372 chrX 135059685 135123952 + SMIM10L2B-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228373 chr9 87423634 87423893 + AL353752.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228374 chr2 139732708 139733282 - AC012497.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228375 chr9 81410279 81410630 + RPS20P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228376 chr9 97075671 97081945 - GAS2L1P2 transcribed_processed_pseudogene 340508 0 0 0 0 0 0 0 0 0 ENSG00000228379 chrY 9813315 9817513 + AC010891.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228380 chr2 208269343 208269957 - MYL6BP1 processed_pseudogene 1 0 0 0 1 0 0 2 0 ENSG00000228382 chr1 226656640 226675067 - ITPKB-IT1 sense_intronic 50 59 57 26 48 51 17 19 28 ENSG00000228383 chrY 9367803 9377092 - FAM197Y7 transcribed_unprocessed_pseudogene 105379269 0 0 0 0 0 0 0 0 0 ENSG00000228384 chr2 70994510 71002754 + AC007040.1 antisense 11 8 20 10 8 1 15 6 7 ENSG00000228386 chr20 34014969 34017749 - AL031668.1 lincRNA 1 4 0 0 0 0 0 2 0 ENSG00000228391 chr2 2870558 2871231 - AC011995.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228392 chr9 126270121 126275918 - AL162391.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228393 chr7 104950315 105013044 - LINC01004 antisense 17 35 24 78 79 92 47 44 57 ENSG00000228395 chr9 128528901 128552410 - AL356481.1 antisense 48 34 44 18 48 38 29 30 26 ENSG00000228397 chr1 22023990 22026048 - LINC01635 lincRNA 101928043 4 1 4 0 0 13 0 3 5 ENSG00000228398 chr3 141865012 141865279 - HMGN2P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228399 chr1 101256274 101256616 + AL109741.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228400 chr2 124016858 124025173 - AC079154.1 antisense 107985820 0 0 0 0 0 0 0 0 0 ENSG00000228401 chr9 136648610 136660421 - HSPC324 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228403 chr10 48878022 48878649 + AC035139.1 sense_intronic 6 17 9 14 45 15 32 24 14 ENSG00000228404 chr21 46185079 46188941 + AP001468.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228407 chr1 52160261 52160600 - AL139156.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000228408 chr6 149217926 149245554 + AL031056.1 lincRNA 0 0 2 3 1 5 0 3 0 ENSG00000228409 chr7 65751142 65763354 + CCT6P1 transcribed_unprocessed_pseudogene 13 65 62 35 47 58 31 28 38 ENSG00000228410 chrX 155978992 155979325 - ELOCP24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228411 chrY 12801973 12803830 - CDY4P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228412 chr6 19324988 19839080 - AL022068.1 antisense 100506885 0 0 0 1 0 0 0 0 0 ENSG00000228413 chr3 196044695 196045254 + AC024937.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228414 chr2 60825132 60881314 - LINC01185 lincRNA 400957 0 1 0 2 1 0 0 2 0 ENSG00000228415 chr6 30633632 30633956 + PTMAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228417 chr10 110207850 110208591 - AL360182.2 antisense 5 12 6 3 5 10 4 9 2 ENSG00000228420 chr1 109828355 109871436 + LINC01768 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228421 chr7 28957667 28959345 + AC005013.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228422 chr20 11800463 11870715 - LINC00687 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228423 chr1 8805860 8807051 - AL357552.2 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000228426 chr10 43665668 43667005 + AL645634.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228427 chrX 71183559 71198175 - AL590764.1 antisense 0 2 3 3 3 9 0 1 3 ENSG00000228429 chr7 68640798 68641584 + AC004910.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228430 chr9 81977614 82780194 + AL162726.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228431 chr1 68049360 68049745 - ARL5AP3 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000228432 chr6 31366352 31366898 - DHFRP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228433 chr21 32621084 32622083 + OR7E23P unprocessed_pseudogene 1 0 0 0 0 0 0 0 3 ENSG00000228434 chr7 44004046 44007866 - AC004951.1 lincRNA 22 16 52 12 9 16 25 7 20 ENSG00000228436 chr1 38860000 38919396 + AL139260.1 antisense 0 3 5 26 48 33 19 35 20 ENSG00000228437 chr1 221966341 221984964 + LINC02474 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228438 chr20 8929895 8930038 - AL445567.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228439 chr6 99520693 99531918 + TSTD3 protein_coding 0 0 5 1 3 1 0 0 4 ENSG00000228440 chr7 57170974 57172771 + MTND5P6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228444 chr13 75631271 75632135 + AL137244.1 sense_intronic 0 0 0 2 0 1 0 0 0 ENSG00000228445 chr2 233747214 233748079 + UGT1A2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228446 chr2 224499387 224500100 - AC073052.1 processed_pseudogene 12 7 13 37 55 56 43 20 40 ENSG00000228450 chrX 131492279 131492886 - AL049734.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228451 chr8 26375913 26382953 - SDAD1P1 transcribed_processed_pseudogene 157489 8 13 15 349 409 422 218 198 202 ENSG00000228452 chr1 42775813 42776790 - AC098484.1 antisense 4 5 2 2 1 3 3 4 3 ENSG00000228453 chr1 117138229 117138609 + RPS15AP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228459 chrX 3271820 3284653 + LINC01546 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228460 chr10 95007126 95007556 - CYP2C59P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228462 chr10 45073146 45073541 - RPS19P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228463 chr1 257864 359681 - AP006222.1 transcribed_processed_pseudogene 48 82 52 26 72 18 48 60 51 ENSG00000228464 chrX 26345236 26346242 + AC073614.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228465 chrY 23967564 23970694 - TRAPPC2P10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228466 chrX 123561642 123562966 + TUBB4AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228467 chr9 38804007 38851916 + AL845311.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228470 chr1 214344172 214357615 - AL929236.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000228471 chr2 130082092 130082220 - AC018865.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228473 chr13 87379472 87380258 - LIN28AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228474 chr2 27070472 27071773 - OST4 protein_coding 100128731 GO:0016021, GO:0008250, GO:0008250, integral component of membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, GO:0005515, protein binding, GO:0018279, GO:0018279, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, 246 248 289 220 274 247 205 222 181 ENSG00000228476 chr20 23918771 23922169 - CSTP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000228477 chr1 39962680 39963404 + AL663070.1 processed_pseudogene 1 1 11 4 1 0 3 1 5 ENSG00000228478 chr6 10423140 10426176 - AL138885.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228480 chr16 26354796 26358355 - AC130464.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228481 chr2 45674701 45675476 - U51244.1 antisense 105374580 0 0 0 6 0 0 0 0 0 ENSG00000228482 chr20 6731258 6736136 - LINC01713 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228484 chr10 114764788 114794344 + AL137025.1 lincRNA 101927692 0 0 0 0 0 1 1 1 2 ENSG00000228485 chr10 119208531 119211760 + GRK5-IT1 sense_intronic 0 3 4 4 0 4 0 0 2 ENSG00000228486 chr2 97664217 97703064 + C2orf92 protein_coding 728537 GO:0016021, integral component of membrane, 7 17 9 16 12 5 10 16 6 ENSG00000228487 chr9 127213783 127221907 - AL450263.1 antisense 13 11 9 3 10 17 19 7 20 ENSG00000228488 chr2 100722221 100722882 - AC092168.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228489 chr4 123745750 123746226 - RPL21P50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228492 chrX 74202834 74204595 + RAB11FIP1P1 processed_pseudogene 72 84 109 76 105 132 118 68 120 ENSG00000228495 chr6 132131915 132169374 + LINC01013 lincRNA 100507254 0 0 0 0 0 0 0 0 0 ENSG00000228496 chr2 11681460 11683328 + AC106875.1 sense_intronic 100506405 0 0 0 0 0 0 0 0 0 ENSG00000228499 chr2 235882362 235882493 - TMSB10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228501 chr13 100150481 100151092 - RPL15P18 processed_pseudogene 0 0 0 0 0 0 2 0 2 ENSG00000228502 chr1 96446930 96448318 + EEF1A1P11 processed_pseudogene 1 0 0 0 0 6 2 1 3 ENSG00000228503 chr20 47958022 47958603 + AL357558.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228504 chr1 95310928 95318263 - LINC01760 lincRNA 100996630 0 0 0 0 0 0 0 0 0 ENSG00000228505 chr2 14616428 14630192 + AC011897.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228506 chr6 99424922 99431373 + AL513550.1 antisense 160 136 197 95 147 212 103 86 94 ENSG00000228507 chr2 171491422 171491931 + DAP3P2 processed_pseudogene 0 3 1 7 1 1 0 0 5 ENSG00000228509 chr2 190676944 190708716 - AC006460.1 antisense 114 114 309 68 84 101 86 77 77 ENSG00000228510 chr9 128444587 128446628 + AL359091.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228513 chr2 203061314 203062403 - AC023271.1 processed_pseudogene 7 5 10 1 1 12 1 3 0 ENSG00000228517 chrX 120953288 120956600 - CT47A7 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. 653282 0 0 0 0 0 0 0 0 0 ENSG00000228518 chrY 17192826 17193652 + SURF6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228519 chrX 25645722 25646327 - AC097263.1 processed_pseudogene 0 1 0 2 0 0 0 0 0 ENSG00000228521 chr7 155204147 155205189 + AC099552.3 lincRNA 0 0 0 3 9 12 3 6 7 ENSG00000228522 chr9 63330326 63343660 + AL845321.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228523 chr1 67278052 67278779 + AL389925.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228525 chr1 226958069 226958267 - AL353689.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000228526 chr1 9148011 9198906 - MIR34AHG lincRNA 106614088 GO:0035195, gene silencing by miRNA, 1 0 2 0 0 0 0 0 0 ENSG00000228527 chr10 58304553 58305621 + AC016396.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228528 chr2 104703758 104705509 + AC068057.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228530 chr1 199876978 199877558 + AL445687.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228532 chrX 115718942 115719229 - AC005000.1 processed_pseudogene 22 89 58 11 68 31 41 32 42 ENSG00000228536 chr1 219409523 219459369 - AL513283.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228538 chr2 21638184 21649563 - AC009411.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228539 chr20 24491472 24502345 - AL157413.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228540 chr7 110724159 110725825 - AC073326.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000228541 chr2 62463127 62464070 + AC093159.1 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000228543 chrX 9249920 9275206 + AC003684.1 lincRNA 0 0 0 0 0 0 3 0 0 ENSG00000228544 chr9 136803927 136808848 - CCDC183-AS1 antisense 100131193 11 3 14 11 10 12 14 12 20 ENSG00000228546 chr7 102337316 102339115 + AC091390.2 unprocessed_pseudogene 1 0 1 0 0 0 1 0 0 ENSG00000228547 chr10 14999050 15000055 - OR7E26P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228548 chr1 226668897 226676345 + ITPKB-AS1 antisense 3 4 4 0 2 0 4 1 7 ENSG00000228549 chr1 16870945 16874092 + BX284668.2 lincRNA 112267871 GO:0030533, triplet codon-amino acid adaptor activity, GO:0006412, translation, 1 1 2 0 0 0 0 0 0 ENSG00000228550 chrX 7113005 7113404 - AC073583.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000228551 chr2 109251422 109251646 + SNRPGP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228553 chr10 94225160 94227288 - AL389885.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228554 chr7 39700341 39703296 - AC004837.2 antisense 0 0 0 2 0 3 4 0 0 ENSG00000228557 chr9 30988085 30990572 + HSPA8P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228559 chr6 35544632 35545669 + AL033519.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228560 chr1 159346166 159469068 - AL513323.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228561 chr3 177683627 177691250 + AC026355.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228563 chr2 31526942 31563464 + AL133247.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228564 chr7 64024409 64030105 - LINC01005 lincRNA 100506050 0 0 0 0 0 0 0 0 0 ENSG00000228566 chr10 63664664 63990568 + AC022387.1 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000228567 chr19 53266676 53267723 - VN1R4 protein_coding 317703 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0016503, pheromone receptor activity, GO:0019236, GO:0007186, response to pheromone, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000228568 chr2 72288785 72289110 + AC006461.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228569 chr7 156432523 156435833 - AC073133.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228570 chr10 79841358 79850878 + NUTM2E protein_coding 283008 3 9 2 0 6 0 0 7 0 ENSG00000228571 chrY 22537047 22537849 + HSFY7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228572 chrX 253743 255091 + AL954722.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228573 chr13 47825330 47835956 - AL138962.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228577 chr2 206606497 206609812 - AC010731.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228578 chrY 17516836 17519038 - TUBB1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228585 chr2 5313740 5314134 - AC073143.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228586 chr2 158685903 158753775 + AC005042.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228587 chr22 35685940 35689373 + AL049748.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228589 chr1 28095742 28096422 - SPCS2P4 processed_pseudogene 90 71 121 52 39 72 56 67 62 ENSG00000228590 chr2 60336446 60439828 - MIR4432HG lincRNA 106660609 0 3 0 5 1 1 3 3 0 ENSG00000228592 chr21 23361104 23384861 - D21S2088E lincRNA 266917 0 0 0 0 0 0 0 0 0 ENSG00000228593 chr20 25919499 25919681 - CFTRP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228594 chr1 1598012 1600096 - FNDC10 protein_coding 643988 GO:0016021, integral component of membrane, 5 3 13 4 9 0 6 5 0 ENSG00000228595 chr9 91611343 91612492 + PAICSP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228596 chr7 44785050 44787340 - AC013436.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228597 chr13 84520103 84521568 + MTND4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228598 chr7 20141916 20153531 + MACC1-AS1 antisense 100874041 0 0 0 0 0 0 0 0 0 ENSG00000228599 chr22 40106325 40107066 - RPL7P52 processed_pseudogene 0 1 1 0 5 5 0 2 0 ENSG00000228600 chr21 14757588 14758352 + POLR2CP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228601 chr20 56459428 56459583 - RPL39P processed_pseudogene 215 154 201 56 81 55 33 83 38 ENSG00000228604 chr20 21148741 21162890 - AL121759.1 antisense 2 11 11 2 7 3 9 5 5 ENSG00000228606 chr1 160261744 160262778 + AL139011.1 antisense 100287049 93 81 98 69 83 91 70 55 27 ENSG00000228607 chr11 113779747 113780500 + CLDN25 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010]. 644672 GO:0070160, GO:0016021, GO:0005923, GO:0005886, tight junction, integral component of membrane, bicellular tight junction, plasma membrane, GO:0005198, structural molecule activity, GO:0070830, GO:0007155, bicellular tight junction assembly, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000228610 chrX 23198339 23198690 + PDCL2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228611 chr13 55999200 56000448 - HNF4GP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228612 chrX 80571871 80574607 - HK2P1 processed_pseudogene 0 2 1 2 0 3 3 1 0 ENSG00000228613 chr2 1546665 1620113 - AC141930.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228615 chr2 111742586 111744662 + AC093166.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228618 chr2 215476667 215480248 + AC012462.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228620 chr22 38424288 38427336 + Z97056.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228622 chr22 33105383 33106059 - Z82198.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228623 chr9 112957722 113012227 - ZNF883 transcribed_unprocessed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000228624 chr6 113969701 114471705 + HDAC2-AS2 antisense 101927768 1 0 1 2 2 0 0 3 0 ENSG00000228625 chr1 227178333 227183444 + AL451047.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228626 chr1 148288001 148288951 - AC245100.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228627 chr7 53559214 53568249 - AC009468.1 lincRNA 105375283 0 0 0 0 0 0 0 0 0 ENSG00000228629 chr19 36528318 36535235 + AC092295.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228630 chr12 53962308 53974956 - HOTAIR antisense This gene is located within the Homeobox C (HOXC) gene cluster on chromosome 12 and is co-expressed with the HOXC genes. It functions through an RNA product, which binds lysine specific demethylase 1 (LSD1) and Polycomb repressive complex 2 (PRC2), and serves as a scaffold to assemble these regulators at the HOXD gene cluster, thereby promoting epigenetic repression of HOXD. This gene is highly expressed in multiple tumors. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Feb 2019]. 100124700 GO:0005515, protein binding, GO:0006342, chromatin silencing, 0 0 0 0 0 0 0 0 0 ENSG00000228634 chr1 31933020 31933975 + AL136115.1 lincRNA 14 9 13 2 8 19 4 7 8 ENSG00000228636 chr10 9758783 9878060 - AL358214.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228638 chr3 48290793 48291375 - FCF1P2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228639 chr17 72021851 72034092 - ROCR lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228643 chr2 286419 301515 + AC079779.2 processed_transcript 1 0 2 0 0 0 0 0 0 ENSG00000228645 chr7 63509303 63510165 + PHKG1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228646 chr1 213428708 213429077 - RPL31P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228648 chr6 167241891 167245916 + AL353747.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228649 chr7 22854178 22861579 + SNHG26 processed_transcript 109729180 0 2 4 10 8 13 3 3 8 ENSG00000228650 chr5 56770799 56772303 + AC008940.1 lincRNA 1 0 0 0 0 0 4 0 0 ENSG00000228653 chr7 64500825 64501729 + HNRNPCP7 processed_pseudogene 0 0 0 0 1 1 5 4 2 ENSG00000228655 chr2 143295421 143480789 - AC096558.1 antisense 9 12 13 22 34 35 18 12 27 ENSG00000228656 chr9 63761546 63762824 - MYO5BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228657 chr10 102572757 102573225 - RPL23AP58 processed_pseudogene 0 0 0 0 0 0 0 0 6 ENSG00000228658 chr9 88971638 88976298 + AL772202.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228659 chrX 130981590 131058146 - LINC01201 antisense 104266960 0 0 0 0 0 0 0 0 0 ENSG00000228660 chr7 63963431 63964123 - VN1R35P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228661 chr11 3854318 3855509 - AC090587.1 antisense 105376527 5 0 11 0 2 0 2 7 2 ENSG00000228663 chr20 50913731 50914411 + PSMD10P1 processed_pseudogene 8 8 7 15 12 20 3 3 9 ENSG00000228664 chr1 182328497 182329007 + AL513480.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228665 chr1 109030067 109030319 + BX679664.1 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000228666 chr6 28969130 28970460 - KRT18P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228667 chr10 24867645 24868190 + AL157385.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228668 chr7 38345030 38345499 - TRGV5P TR_V_pseudogene 1 0 3 3 5 8 4 0 1 ENSG00000228669 chr13 62672285 62732359 - LINC00448 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228670 chr2 222452400 222453126 - NANOGP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228672 chr5 139390592 139395713 - PROB1 protein_coding 389333 1 2 2 1 1 7 6 5 5 ENSG00000228674 chr19 50927079 50927571 - PPIAP59 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228675 chr7 17679549 17680659 + AC006482.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228677 chr21 37187666 37193926 - TTC3-AS1 antisense 100874006 8 5 12 12 3 35 12 14 22 ENSG00000228679 chr6 83983728 84007323 + AL034347.1 lincRNA 4 7 13 6 7 12 10 12 2 ENSG00000228680 chr7 43239066 43249268 - AC004692.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228681 chr2 224294930 224295753 + AC008072.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228683 chr10 78696062 78697022 - AC016820.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228685 chr10 5624931 5625126 + AL365356.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228686 chr1 176017277 176018760 + AL590723.1 antisense 147 160 205 47 92 59 84 69 111 ENSG00000228687 chr1 192796533 192797205 + AL035407.2 unprocessed_pseudogene 0 0 0 7 0 0 0 0 0 ENSG00000228688 chr6 33103794 33107330 - COL11A2P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228689 chr6 51599723 51623428 + AL355997.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228692 chr6 163586583 163588165 - AL445307.1 lincRNA 0 0 4 1 0 0 0 0 3 ENSG00000228694 chr10 36434710 36435174 - MTND4P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228695 chr16 55760566 55793960 + CES1P1 transcribed_unprocessed_pseudogene This gene is a member of the carboxylesterase (CES) gene family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene does not encode a protein and the sequence is similar to the CES1 gene, so represents a pseudogene of the CES1 gene. [provided by RefSeq, Jun 2010]. 51716 0 0 0 0 0 0 0 0 0 ENSG00000228696 chr17 46274784 46361797 - ARL17B protein_coding 100506084 GO:0005886, GO:0005794, GO:0005737, plasma membrane, Golgi apparatus, cytoplasm, GO:0005525, GTP binding, GO:0016192, GO:0006886, vesicle-mediated transport, intracellular protein transport, 15 1 1 15 1 1 13 4 2 ENSG00000228697 chr1 168400829 168495685 - AL023755.1 lincRNA 101928565 0 0 0 4 0 0 0 0 0 ENSG00000228700 chr7 128433422 128433713 - AC010655.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228701 chr10 91782839 91798291 - TNKS2-AS1 antisense 100507633 0 0 0 0 1 1 0 0 0 ENSG00000228702 chr10 45725694 45726038 - AL645998.1 processed_pseudogene 0 0 1 2 1 0 0 1 2 ENSG00000228703 chr1 109628417 109630305 - AL355310.2 antisense 2374 2899 2913 1417 2842 2339 1475 1865 2035 ENSG00000228705 chr20 62774128 62775412 - LINC00659 antisense 1 0 5 5 6 16 4 4 8 ENSG00000228707 chr9 116012361 116012965 + AL691426.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228708 chr21 18477358 18486599 - AL109763.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000228709 chr21 44485577 44490288 + LINC02575 lincRNA 0 0 0 0 0 6 0 0 0 ENSG00000228711 chr7 82657035 82657411 + AC004006.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228714 chr9 115324932 115744330 - AL691420.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228716 chr5 80626228 80654983 - DHFR protein_coding Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]. 1719 GO:0005829, GO:0005739, GO:0005739, cytosol, mitochondrion, mitochondrion, GO:1990825, GO:0070402, GO:0051870, GO:0050661, GO:0008144, GO:0005542, GO:0004146, GO:0004146, GO:0004146, GO:0004146, GO:0003729, GO:0000900, sequence-specific mRNA binding, NADPH binding, methotrexate binding, NADP binding, drug binding, folic acid binding, dihydrofolate reductase activity, dihydrofolate reductase activity, dihydrofolate reductase activity, dihydrofolate reductase activity, mRNA binding, translation repressor activity, mRNA regulatory element binding, GO:2000121, GO:0055114, GO:0051000, GO:0046655, GO:0046655, GO:0046655, GO:0046654, GO:0046654, GO:0046654, GO:0046653, GO:0046452, GO:0046452, GO:0031427, GO:0031103, GO:0017148, GO:0006730, GO:0006729, GO:0006729, GO:0000083, regulation of removal of superoxide radicals, oxidation-reduction process, positive regulation of nitric-oxide synthase activity, folic acid metabolic process, folic acid metabolic process, folic acid metabolic process, tetrahydrofolate biosynthetic process, tetrahydrofolate biosynthetic process, tetrahydrofolate biosynthetic process, tetrahydrofolate metabolic process, dihydrofolate metabolic process, dihydrofolate metabolic process, response to methotrexate, axon regeneration, negative regulation of translation, one-carbon metabolic process, tetrahydrobiopterin biosynthetic process, tetrahydrobiopterin biosynthetic process, regulation of transcription involved in G1/S transition of mitotic cell cycle, 55 73 48 36 36 40 44 46 26 ENSG00000228717 chrX 151226229 151227715 - AF013593.1 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000228718 chr6 2617144 2640001 + LINC02521 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228719 chr22 36445395 36454944 - AL022313.2 lincRNA 8 8 5 4 9 7 4 4 4 ENSG00000228721 chr2 132911096 132911261 - AC016909.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228723 chr3 9192493 9194453 + SRGAP3-AS2 antisense 101927416 0 0 0 0 0 0 0 0 0 ENSG00000228725 chr17 19603797 19605048 + MTND2P12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228727 chr6 31762799 31764851 + SAPCD1 protein_coding 401251 0 0 0 0 0 0 0 0 0 ENSG00000228728 chrX 150818753 150819246 + PPIAP91 processed_pseudogene 0 1 2 0 0 0 0 0 0 ENSG00000228729 chr1 227234269 227235355 + AL627308.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228730 chr3 190697923 190698848 - LINC02013 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228734 chr1 63249920 63251771 + AC096543.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228735 chr7 54576052 54578794 - AC011228.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228737 chr5 141618414 141626481 + AC008781.1 antisense 43 40 49 33 42 47 50 42 28 ENSG00000228739 chr9 6047360 6066714 + AL162384.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228740 chr15 27157615 27161319 - GABRG3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228741 chr13 23979810 24035027 + SPATA13 lincRNA 221178 GO:0032587, GO:0030175, GO:0030027, GO:0005829, GO:0005737, GO:0005654, ruffle membrane, filopodium, lamellipodium, cytosol, cytoplasm, nucleoplasm, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0046847, GO:0030334, GO:0030032, GO:0016477, filopodium assembly, regulation of cell migration, lamellipodium assembly, cell migration, 0 0 0 0 0 0 0 0 0 ENSG00000228742 chr7 106774955 106838480 + LINC02577 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228744 chr8 7122857 7123704 + RPS3AP30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228748 chr10 77782866 77793176 + AL450306.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228750 chr1 6724637 6730012 + LINC01672 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228751 chr7 95350164 95351229 + AC004022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228753 chr10 21028999 21030792 + EIF4BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228754 chr10 48745545 48746128 - RPL13AP19 processed_pseudogene 3 4 6 3 4 6 0 6 4 ENSG00000228755 chr10 42279734 42281819 - PABPC1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228757 chr14 106436415 106436555 - AC244452.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228759 chr10 91765899 91767196 - FAF2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228763 chr2 108676795 108678601 - LIMS1-AS1 antisense 106182118 7 5 15 2 0 7 1 0 7 ENSG00000228764 chrY 20390051 20396796 + ZNF885P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228766 chr3 182610674 182611414 + RPL7L1P8 processed_pseudogene 0 3 2 0 0 0 0 0 0 ENSG00000228767 chr3 35215705 35217149 - KRT8P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228768 chr17 31571142 31575659 + AC003101.1 lincRNA 0 0 0 0 2 0 5 0 0 ENSG00000228769 chr7 72103181 72104209 + ABCF2P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228770 chr7 36228621 36228884 - AC007327.1 processed_pseudogene 1 1 0 0 1 8 4 2 0 ENSG00000228771 chrX 52583989 52586312 + BX510359.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228772 chr6 22589137 22593833 - AL033539.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228775 chr7 141704338 141738346 - WEE2-AS1 antisense 285962 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000228776 chr1 42140635 42141391 + AC114492.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228777 chr6 115633542 115634191 - LINC02534 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228778 chr10 99526948 99528467 + AL513542.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228779 chr16 125737 127219 + Z69666.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000228780 chrX 42150511 42150744 - Z92545.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228781 chr9 78180214 78180693 - AL353705.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228782 chr17 47450568 47492492 - MRPL45P2 transcribed_unprocessed_pseudogene 2 2 1 10 1 5 4 3 9 ENSG00000228783 chr9 1011085 1011799 + AL358976.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228784 chr2 19868860 19885047 + LINC00954 lincRNA 400946 82 66 97 132 108 109 151 80 114 ENSG00000228786 chrY 25378300 25394719 - LINC00266-4P lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228787 chrY 14793642 14804033 - NLGN4Y-AS1 antisense 100874056 0 0 0 0 0 0 0 0 0 ENSG00000228789 chr6 31053450 31059890 + HCG22 lincRNA 285834 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000228790 chr19 54703952 54704235 + AC245128.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228791 chr3 24494087 24681711 + THRB-AS1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000228792 chr1 211635906 211642867 - AL356310.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228793 chr6 3594247 3624747 - AL138881.1 lincRNA 100507336 0 0 0 0 0 0 0 0 0 ENSG00000228794 chr1 825138 859446 + LINC01128 processed_transcript 643837 32 38 52 170 177 235 125 81 115 ENSG00000228797 chr13 18697003 18697507 + FAM207BP processed_pseudogene 4 4 1 1 1 13 5 5 11 ENSG00000228799 chr2 900216 905451 - LINC01939 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228800 chr10 30553854 30554483 - AL590068.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228801 chr8 51899325 51947173 + AC064807.1 antisense 102724330 2 0 0 0 1 4 7 2 8 ENSG00000228802 chr2 223965701 223967706 - AC073641.1 antisense 7 4 11 0 8 7 0 8 8 ENSG00000228803 chr7 22747675 22748804 - MTCYBP42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228804 chr3 187702313 187733849 + AC072022.1 antisense 100131635 897 873 1397 628 654 878 856 513 774 ENSG00000228806 chr7 155106400 155106651 + AC092628.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228807 chr22 44483495 44483717 - MRPS18CP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228808 chr13 99372173 99372686 + HMGB3P4 processed_pseudogene 1 10 10 9 5 5 14 3 0 ENSG00000228809 chr20 16714844 16730948 - AL034428.1 processed_transcript 1 0 6 0 1 0 1 2 2 ENSG00000228810 chr9 17589161 17591318 - PABPC1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228812 chr20 62352995 62356480 + LAMA5-AS1 antisense 101928158 0 0 0 0 0 0 0 0 0 ENSG00000228814 chr4 112881718 112882132 - AC017007.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228815 chr7 36109024 36110872 - MARK2P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228816 chr10 32944481 32944999 + AK3P5 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000228817 chr21 29370497 29373709 + BACH1-IT2 lincRNA 44 57 74 46 60 66 38 62 57 ENSG00000228818 chr1 240142670 240145389 - AL359918.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228819 chrX 132130091 132131352 - AL049792.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228820 chr20 51130788 51131667 - RPSAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228823 chr1 21411460 21413293 - AL592309.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228824 chr13 87427214 87671259 - MIR4500HG lincRNA 642345 0 0 0 0 0 0 0 0 0 ENSG00000228825 chr13 36922539 36922908 + LAMTOR3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228826 chr1 121494379 121510383 - AL592494.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228827 chrX 51903338 51903850 - AL929410.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228828 chr10 37818606 37820982 - TLK2P2 processed_pseudogene 0 0 0 0 0 0 2 1 0 ENSG00000228829 chr7 76173733 76177205 + AC005077.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228830 chr1 234607008 234609483 + AL160408.2 antisense 499 553 1772 711 343 501 887 521 627 ENSG00000228833 chrX 149757797 149757895 + AC244098.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228834 chr6 108907615 108907873 - AL445189.2 processed_pseudogene 0 1 1 0 0 0 0 3 0 ENSG00000228835 chr18 32769795 32774413 + AC012123.1 antisense 0 3 0 0 0 0 0 0 0 ENSG00000228836 chrX 135777130 135785298 - CT45A5 protein_coding This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 441521 GO:0032039, integrator complex, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000228837 chr2 154940541 154941067 - CBX3P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228838 chr1 53288024 53289706 + AL355483.2 antisense 0 0 4 4 0 0 0 0 0 ENSG00000228839 chr22 31292499 31338021 + PIK3IP1-AS1 antisense 101929760 13 20 6 20 8 17 9 9 4 ENSG00000228842 chr13 66825169 66915031 + PCDH9-AS2 antisense 100874064 0 0 0 0 0 0 0 0 0 ENSG00000228843 chr9 35756712 35757940 - AL133410.2 antisense 41 65 63 30 71 77 35 70 39 ENSG00000228844 chr1 240636599 240637052 - AL358176.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228847 chrX 42098754 42099173 - ATP5MC2P4 processed_pseudogene 2 0 1 1 2 1 0 2 0 ENSG00000228848 chr2 148870024 148870381 - AC105402.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228850 chrY 22064698 22065712 + CDY12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228851 chr7 57191141 57191927 + MTCO3P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228852 chr1 95243167 95278940 - AC092802.2 antisense 0 3 4 6 0 3 2 0 0 ENSG00000228853 chr1 71794232 71837012 - NEGR1-IT1 sense_intronic 100852409 0 0 0 0 0 0 0 0 0 ENSG00000228855 chrX 147591612 147591909 - AL009048.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228856 chr4 9363129 9364721 + USP17L30 protein_coding 728419 0 0 0 0 0 0 0 0 0 ENSG00000228857 chr2 113831049 113843356 - AC104653.1 lincRNA 2 4 1 2 0 0 5 1 6 ENSG00000228860 chr10 21217891 21218279 + AL731547.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228861 chr21 39127568 39128040 + RPL23AP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228862 chr8 60629662 60653561 - AC068389.1 lincRNA 0 0 1 0 2 0 0 1 0 ENSG00000228863 chr1 160670778 160699761 + AL121985.1 antisense 401 334 907 505 355 683 644 435 691 ENSG00000228868 chr3 75328549 75339071 - MYLKP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228869 chr13 45671845 45672391 + COX4I1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228872 chr2 63717122 63717899 + AC096664.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228873 chr2 96145602 96147012 - AC012307.1 lincRNA 1 0 2 7 2 0 0 0 15 ENSG00000228874 chr3 15131848 15132208 - AC090954.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228876 chr2 16224047 16333978 + AC010745.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228877 chr9 134527182 134545244 + AL669970.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228878 chr7 35751856 35800616 - SEPT7-AS1 lincRNA 5 0 1 5 9 11 9 5 9 ENSG00000228879 chr1 246755511 246755832 - AL591848.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228882 chr10 38452987 38455365 - CICP9 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000228884 chr2 231585864 231586327 + RPL23AP26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228886 chr13 45350323 45351350 + AL138963.1 lincRNA 5 11 11 3 0 4 1 2 5 ENSG00000228887 chr19 14070342 14071237 + EEF1DP1 processed_pseudogene 0 2 1 0 2 6 0 2 3 ENSG00000228888 chr20 7146467 7254202 - LINC01428 lincRNA 101929265 0 0 0 1 0 0 0 0 0 ENSG00000228889 chr13 99196377 99200710 - UBAC2-AS1 lincRNA 100289373 0 0 3 0 2 0 1 0 0 ENSG00000228890 chrY 9717653 9721296 - TTTY21 lincRNA 252953 0 0 0 0 0 0 0 0 0 ENSG00000228897 chr7 51386363 51387101 - AC012441.2 processed_pseudogene 2 7 1 7 5 2 1 3 0 ENSG00000228898 chr2 117026537 117027024 + MTCO1P43 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228901 chr11 13610363 13610771 - HMGN2P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228902 chr2 84039885 84040720 - ST6GALNAC2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228903 chr7 44026951 44041892 - RASA4CP transcribed_unprocessed_pseudogene 110 106 93 61 83 62 64 44 41 ENSG00000228906 chrX 73948973 73949558 + AL353804.1 lincRNA 18 11 10 16 5 17 20 6 9 ENSG00000228909 chr2 219904051 219904889 - LINC01803 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228914 chr9 122607864 122608800 + OR1H1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228915 chr11 71893410 71894433 + OR7E128P unprocessed_pseudogene 2 2 0 2 0 0 5 0 0 ENSG00000228917 chr1 161084465 161087571 + AL591806.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228918 chr1 182129310 182314061 - LINC01344 lincRNA 4 3 9 7 18 10 2 2 2 ENSG00000228919 chr4 7939001 7940296 + AC097381.1 lincRNA 389199 6 4 4 5 0 3 0 3 3 ENSG00000228922 chrX 135201731 135215232 + AC234771.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228923 chr22 24516508 24518386 + AP000355.1 antisense 6 6 21 3 7 3 7 0 1 ENSG00000228925 chr2 46899275 46908678 + AC016722.2 antisense 4 14 15 25 4 15 9 8 5 ENSG00000228927 chrY 9398421 9401223 + TSPY3 protein_coding 728137 GO:0005634, nucleus, GO:0042393, GO:0003682, histone binding, chromatin binding, GO:0030154, GO:0007506, GO:0007283, GO:0006334, cell differentiation, gonadal mesoderm development, spermatogenesis, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000228928 chr7 88564793 88566281 - KPNA2P2 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000228929 chr1 52772194 52772648 - RPS13P2 processed_pseudogene 6 4 8 5 4 4 13 7 7 ENSG00000228930 chr21 45376191 45376382 - MTCO1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228933 chrX 27174920 27398997 - AC107419.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228935 chr20 22960534 22966063 - AL353132.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228937 chr2 157961410 157962888 - AC005539.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228938 chr10 89978717 89979070 + SNRPD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228939 chr1 243793205 243794400 - AKT3-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000228940 chr1 40938104 40939763 - AL391730.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228941 chr21 31060600 31063168 - UBE3AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228943 chr1 28109739 28110298 + AL137792.2 processed_pseudogene 6 7 22 1 3 1 8 2 5 ENSG00000228944 chr7 24196662 24255719 - AC004485.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228945 chrY 18280178 18284761 + CLUHP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228948 chr9 105849710 105851425 + SLC25A6P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228949 chr2 233585439 233586291 + UGT1A12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228950 chr2 20451042 20452947 + AC023137.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228951 chr10 5616862 5618161 - AL365356.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228952 chr3 187448845 187449450 + LINC02041 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228953 chr7 23655682 23655861 + AC006026.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228955 chr1 246632251 246632478 - AL591623.2 processed_pseudogene 3 1 4 5 0 6 2 8 0 ENSG00000228956 chr3 18445024 18920401 + SATB1-AS1 processed_transcript 10 13 27 55 17 42 57 9 35 ENSG00000228957 chr9 97386240 97396112 - AL512590.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228958 chr20 33965162 33965576 + PIGPP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228959 chr20 42014034 42015478 - AL049812.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228960 chr7 144294480 144300934 + OR2A9P transcribed_unprocessed_pseudogene 1 0 3 5 1 1 6 0 2 ENSG00000228961 chr21 32958888 32960566 + LINC01690 lincRNA 102724502 0 0 0 0 0 0 0 0 0 ENSG00000228963 chr3 125724539 125725445 + OR7E93P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228965 chrX 152045314 152046193 - RPSAP60 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228966 chr14 106460092 106461055 - HOMER2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228968 chr2 104125268 104147229 - AC096554.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000228970 chr2 97636780 97637803 - UBTFL6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228971 chr1 95510116 95782342 + AL356479.1 lincRNA 100996635 0 0 0 0 0 0 0 0 0 ENSG00000228973 chr2 219625059 219626693 - AC009955.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228974 chr7 5560743 5561055 + AC006483.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228976 chr6 108618000 108618285 - SUMO2P8 processed_pseudogene 1 5 0 7 2 3 4 0 17 ENSG00000228979 chr17 63471604 63472093 + PPIAP55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228980 chr3 109409990 109495167 + LINC01205 lincRNA 401082 0 0 0 0 0 0 0 0 0 ENSG00000228981 chr4 143349275 143350117 - AC097658.1 processed_pseudogene 6 4 1 2 4 2 0 1 0 ENSG00000228982 chr1 247085389 247086067 - AL627095.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228983 chr17 19579943 19596058 + SLC47A1P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228984 chr8 46784800 46785928 + AC021451.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228985 chr14 22449113 22449125 + TRDD3 TR_D_gene 0 0 0 0 0 0 0 0 2 ENSG00000228986 chrX 155292169 155293432 + AC234781.3 processed_pseudogene 5 0 0 6 2 3 3 0 1 ENSG00000228988 chr1 70218589 70221023 - AL353771.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000228992 chr15 27895704 27896582 + RPL5P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228995 chr20 57357426 57358369 - MTND1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228997 chr10 10776223 10776661 - AL136452.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228998 chr15 90275129 90275716 + AC091167.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000228999 chr2 21933268 22531105 - AC096570.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229000 chr19 53772506 53773280 - SEPT7P8 processed_pseudogene 11 12 7 12 7 18 10 14 5 ENSG00000229001 chr10 69022778 69023866 + ACTBP14 processed_pseudogene 8 3 5 1 7 0 5 1 15 ENSG00000229002 chr1 144472535 144474790 - AC246785.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229005 chr20 44372746 44395706 - HNF4A-AS1 antisense 101927219 0 0 0 0 0 0 0 0 0 ENSG00000229007 chr21 32496812 32497311 + EXOSC3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229009 chr4 67991684 68015768 - TMPRSS11GP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229010 chr1 23140325 23141142 + AL161672.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229011 chr13 79804418 79805685 + LINC01038 lincRNA 102724076 0 0 0 0 0 0 0 0 0 ENSG00000229012 chrX 8863861 8867601 - AC003685.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229013 chr2 35471716 35471841 + AC083939.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229014 chr12 40068243 40068590 - RPL30P13 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229015 chrX 135396429 135397764 + AL450472.1 transcribed_unprocessed_pseudogene 100506790 0 0 0 0 0 0 0 0 0 ENSG00000229016 chr1 218301262 218301972 - AC096638.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229017 chr6 142966421 143038077 - LINC01277 lincRNA 3 13 12 2 4 15 6 4 18 ENSG00000229018 chr7 73005541 73021103 + PMS2P7 unprocessed_pseudogene 17 25 16 24 21 22 29 9 12 ENSG00000229019 chr9 68426843 68429369 + AL161457.1 sense_intronic 8 5 1 0 9 0 4 3 4 ENSG00000229020 chr1 112923423 112924337 + AKR7A2P1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000229021 chr1 151994531 152042774 + AL450992.1 antisense 0 2 1 3 2 0 2 0 6 ENSG00000229022 chr1 241831935 241832787 + AL365366.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229023 chr2 190992639 190993567 - AC067945.1 processed_pseudogene 8 4 7 13 12 8 26 8 12 ENSG00000229025 chr21 26349780 26350634 - AP001595.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229027 chr22 16827474 16829335 + HSFY1P1 transcribed_unprocessed_pseudogene 27437 0 0 0 0 0 2 0 0 0 ENSG00000229028 chr17 40717235 40721932 - KRT223P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229029 chr9 14593577 14594200 + CDCA4P1 processed_pseudogene 1 0 0 0 0 1 0 0 0 ENSG00000229030 chrX 71848775 71849004 + BX276092.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229031 chr7 69331835 69333633 - MTCO1P25 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229032 chr1 51980473 51980814 + AL445685.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229035 chr1 153140491 153140709 - SPRR2C unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229036 chr6 143490424 143506406 + VDAC1P8 transcribed_processed_pseudogene 12 3 3 2 7 0 4 1 4 ENSG00000229037 chrX 53807776 53808623 + BX323845.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229042 chr20 42685404 42688562 + AL031656.1 antisense 101927159 0 0 0 0 0 0 0 0 0 ENSG00000229043 chr7 1160374 1165267 + AC091729.3 antisense 4 2 1 4 4 6 6 6 1 ENSG00000229044 chr1 31333067 31346799 - AL451070.1 antisense 28 26 30 7 18 11 14 14 13 ENSG00000229046 chr21 31706555 31706864 + HMGN1P2 processed_pseudogene 0 2 0 1 0 2 1 0 0 ENSG00000229047 chr21 14961309 14964233 + AF127577.1 antisense 11 4 26 17 2 15 11 4 9 ENSG00000229048 chr3 125310881 125311350 + DUTP1 processed_pseudogene 5 8 11 5 7 13 1 2 7 ENSG00000229051 chr1 70706453 70786468 + LINC01788 lincRNA 101927244 0 0 0 0 0 0 0 0 0 ENSG00000229052 chr1 92930696 92934098 + AL449283.1 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000229054 chr7 33036212 33036382 - RPS29P14 processed_pseudogene 3 0 2 0 1 7 5 2 8 ENSG00000229056 chr2 196260024 196264204 + AC020571.1 antisense 101927482 3 7 2 14 5 2 7 3 1 ENSG00000229057 chr9 6662424 6663792 + RPS3AP54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229060 chr9 28148211 28149236 + AL451124.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229063 chr9 33638035 33638494 + TRBV23OR9-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229064 chr7 65247608 65247758 - AC104073.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229065 chr9 95113708 95114461 + AL354893.2 antisense 0 0 1 0 0 0 1 0 0 ENSG00000229066 chr2 175257250 175454640 + AC093459.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229067 chr1 91600171 91600321 + AL714022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229068 chr6 30466452 30467994 + TMPOP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229072 chr3 40699066 40699338 - HMGN2P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229079 chr9 42959280 42960066 - CR848007.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229080 chr9 31505946 31506615 + MTCO3P30 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229081 chr10 132520827 132522449 - LINC01165 antisense 0 0 0 0 0 0 2 0 0 ENSG00000229082 chrX 131341570 131342425 - OR5AW1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229083 chrX 12825840 12826833 + PSMA6P2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000229086 chr21 33165470 33170649 - LINC01548 lincRNA 0 1 0 0 0 0 0 2 0 ENSG00000229087 chr2 15397435 15397782 - AC007738.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229088 chr22 36178554 36179385 + MTND1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229089 chr2 94791103 94857282 - ANKRD20A8P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229090 chrX 101720340 101721709 - FO082842.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229091 chr7 10451311 10453252 + HSPA8P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229092 chr14 106518582 106519027 - IGHV3-47 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229093 chr11 5291761 5292380 - OR51AB1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229097 chr10 70163685 70164124 + CALM2P2 processed_pseudogene 52 134 78 95 165 176 159 100 161 ENSG00000229101 chr1 115556826 115557475 + ELOCP20 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229102 chr3 179101366 179147973 - AC076966.1 lincRNA 101928739 0 0 0 0 0 0 0 0 0 ENSG00000229104 chr2 138897151 138898098 + YY1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229105 chr9 116504283 116562293 + ASTN2-AS1 antisense 100128505 0 0 0 0 0 0 0 0 0 ENSG00000229106 chr1 23901471 23902737 - BTBD6P1 processed_pseudogene 4 6 8 0 5 5 1 0 4 ENSG00000229107 chr22 20667836 20670984 - ABHD17AP4 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000229108 chr7 15688378 15695491 + LINC02587 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229109 chr9 83219331 83234242 + AL137847.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229110 chr7 79124739 79125750 + AC006355.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229111 chr13 48077137 48079991 + MED4-AS1 antisense 100873965 149 160 181 129 127 108 123 106 71 ENSG00000229112 chr1 246528562 246528841 - AL356583.2 unprocessed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000229115 chr9 123759220 123759775 + AL390774.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000229116 chr10 44282926 44293709 - AL137026.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000229117 chr12 56116586 56117943 + RPL41 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with the yeast ribosomal protein YL41, belongs to the L41E family of ribosomal proteins. It is located in the cytoplasm. The protein can interact with the beta subunit of protein kinase CKII and can stimulate the phosphorylation of DNA topoisomerase II-alpha by CKII. Two alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6171 GO:0042788, GO:0022625, GO:0022625, GO:0005829, GO:0005783, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosol, endoplasmic reticulum, GO:0048027, GO:0005515, GO:0003735, GO:0003730, GO:0003723, mRNA 5'-UTR binding, protein binding, structural constituent of ribosome, mRNA 3'-UTR binding, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1432 937 2688 2752 2542 3930 2159 1999 2345 ENSG00000229118 chr2 111265283 111279880 + AC068491.2 lincRNA 0 1 1 3 3 1 0 1 0 ENSG00000229119 chr5 166382305 166382599 + AC026403.1 processed_pseudogene 10 5 18 35 11 16 17 7 21 ENSG00000229120 chr1 202369526 202370145 - CYCSP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229122 chr2 27061038 27061815 + AGBL5-IT1 sense_intronic 3 6 2 5 4 0 6 2 0 ENSG00000229124 chr10 17214239 17229985 - VIM-AS1 antisense 100507347 2838 2750 3552 1358 1956 2463 1665 2004 2111 ENSG00000229127 chr2 210030733 210064356 + AC007038.1 antisense 8 10 6 15 8 12 8 8 6 ENSG00000229129 chrY 17757001 17758125 - ACTG1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229131 chr2 139469775 139477747 + AC016710.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229132 chrX 92113246 92114461 - EIF4A1P10 processed_pseudogene 34 43 61 45 45 30 36 22 48 ENSG00000229133 chr1 68242474 68243055 - RPS7P4 processed_pseudogene 0 0 0 0 0 0 1 1 0 ENSG00000229138 chrY 17882099 17883708 - CDY6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229140 chr8 128634199 129683679 - CCDC26 lincRNA 137196 0 0 0 0 1 1 0 1 0 ENSG00000229142 chr6 29827385 29828364 - HCG4P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229143 chr2 147810346 147810777 + AC009480.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229145 chrX 46288016 46289128 - ACTBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229146 chr9 66082350 66083187 - SNX18P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229147 chr13 19152567 19171194 - SMPD4P2 unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000229150 chr2 208108233 208112511 - CRYGEP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229151 chrX 51356944 51396462 - AC233976.1 lincRNA 1 1 2 0 2 5 0 0 3 ENSG00000229152 chr13 110894639 110899172 - ANKRD10-IT1 sense_intronic 95 82 144 93 90 137 146 65 93 ENSG00000229153 chr7 143407813 143523449 + EPHA1-AS1 antisense 285965 13 8 4 16 13 23 11 5 13 ENSG00000229154 chr6 73134803 73143514 - KCNQ5-AS1 antisense 100873997 0 0 0 0 0 0 0 0 0 ENSG00000229155 chr3 193842560 193844024 - LINC02038 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229156 chr9 64462819 64463196 + CR769776.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000229159 chrY 22183850 22186021 + TSPY23P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229160 chr2 38132637 38138946 - AC009229.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229161 chr7 42794906 42802494 + TCP1P1 unprocessed_pseudogene 0 1 0 0 1 0 0 0 0 ENSG00000229162 chr1 24961345 24963097 + AL445471.1 antisense 2 0 1 1 0 14 0 0 0 ENSG00000229163 chrY 2929001 2931120 - NAP1L1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229165 chr7 48902556 48903891 - GDI2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229167 chr1 31571585 31575573 - AC114488.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229168 chrX 44649129 44649719 + RPL19P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229169 chr22 31538352 31538589 - AL096701.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229172 chr2 227801840 227804705 + AC073065.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229173 chr2 128139792 128140516 - AC108059.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000229175 chr13 79872586 79917944 + LINC00382 lincRNA 101927195 0 0 0 0 0 0 0 0 0 ENSG00000229177 chr7 134346071 134350791 - AC008154.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229178 chr3 195655565 195657927 - AC233280.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229180 chr7 66526088 66592397 - AC006001.3 transcribed_unprocessed_pseudogene 190 246 297 194 316 185 181 250 229 ENSG00000229182 chr8 91917507 91917918 + MRPS16P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229183 chr11 61222216 61231927 + PGA4 protein_coding This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]. 643847 GO:0097486, GO:0070062, multivesicular body lumen, extracellular exosome, GO:0005515, GO:0004190, protein binding, aspartic-type endopeptidase activity, GO:0044267, GO:0007586, GO:0006508, cellular protein metabolic process, digestion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000229184 chr9 2900320 2900804 - ATP5PDP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229186 chr12 111899263 111901391 + ADAM1A unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229188 chr20 33728931 33731828 - AL050349.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229190 chr10 17695709 17700232 - AC069542.1 antisense 23 24 37 8 21 26 7 16 13 ENSG00000229191 chr1 201023949 201028792 + AL358473.1 antisense 16 25 43 3 9 5 3 9 4 ENSG00000229192 chr7 47000620 47079128 - AC004870.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229195 chr2 165794857 165846091 - AC009495.1 lincRNA 4 2 6 2 3 9 2 0 3 ENSG00000229196 chr7 130141731 130142615 + AC087071.1 antisense 100128325 0 0 0 0 0 0 0 0 0 ENSG00000229197 chr10 69300432 69300817 - RPS15AP28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229201 chr1 90510910 90533472 - AC092783.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229203 chr2 131829801 131832031 - AC103564.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229204 chr4 169791221 169791702 - PTGES3P3 processed_pseudogene 2 1 1 0 0 8 4 0 2 ENSG00000229205 chr10 1159768 1164789 + LINC00200 lincRNA 4 0 3 9 0 2 8 0 0 ENSG00000229206 chr10 11030334 11030868 - AL162408.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229207 chr9 34318407 34319655 + SERPINH1P1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000229208 chrY 9831418 9846696 - RBMY2NP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229209 chr2 103109759 103176260 - AC073987.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229211 chr8 31219894 31220984 - KCTD9P6 processed_pseudogene 0 1 1 1 1 1 1 0 0 ENSG00000229212 chr15 85180200 85234795 - AC044860.1 transcribed_unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229213 chr1 39795843 39795996 - AL033527.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229214 chr6 169788790 169799549 - LINC00242 lincRNA 401288 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000229217 chr3 10057973 10058287 - CYCSP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229220 chr1 200147531 200148279 - AC096633.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229221 chr2 63751697 63752630 - HNRNPA1P66 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229222 chr20 49956745 49958032 + KRT18P4 processed_pseudogene 5 5 0 0 0 1 0 2 0 ENSG00000229224 chr2 29096843 29097525 - AC105398.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229225 chr1 63078081 63079031 - AL162400.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229226 chr4 168598240 168598757 - BTF3L4P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229227 chr10 46597918 46612154 + AL356056.1 lincRNA 1 0 0 0 0 2 0 0 0 ENSG00000229228 chr1 231591292 231612090 - LINC00582 antisense 100287814 1 1 1 0 0 0 0 0 0 ENSG00000229229 chr2 70402934 70422678 + AC022201.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229230 chr20 35218009 35218185 + MT1P3 processed_pseudogene 15 12 18 3 11 10 17 4 11 ENSG00000229231 chr21 13762338 13764332 + FEM1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229232 chrX 545236 545352 - KRT18P53 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229233 chr7 12654179 12654985 + AC011891.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000229234 chrY 22209331 22216580 + RBMY1KP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229235 chr10 34663859 34664101 - RPL37P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229236 chrY 20465668 20519228 - TTTY10 lincRNA 246119 26 29 24 29 30 33 31 22 15 ENSG00000229237 chrX 154817099 154817401 - HMGN1P37 processed_pseudogene 3 0 0 0 0 0 0 0 0 ENSG00000229238 chrY 26277923 26354418 - PPP1R12BP1 unprocessed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000229239 chr1 23670294 23680259 + AL451000.1 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229240 chr10 10917880 10952234 - LINC00710 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000229241 chr3 3981981 3984295 - PNPT1P1 processed_pseudogene 1 0 5 1 0 0 1 0 0 ENSG00000229242 chr1 215886582 215901464 + AL358452.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229243 chr3 27830888 27834136 - LINC01981 lincRNA 100996624 0 0 0 0 0 0 0 0 0 ENSG00000229245 chr9 122403407 122448977 + AL359636.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229246 chr13 81043670 81044442 + LINC00377 lincRNA 0 0 0 0 0 0 3 0 0 ENSG00000229247 chr1 26640377 26640614 - AL627313.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229248 chr18 25016434 25017204 - WBP2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229249 chr13 78012883 78053595 + LINC00446 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229250 chrY 24081704 24090346 - USP9YP31 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229251 chr7 84983556 84984506 + HNRNPA1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229254 chr11 124376877 124377801 - OR8C1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229255 chr1 248484245 248485484 - AC138089.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229256 chr10 103215709 103216800 + ST13P13 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000229257 chr9 137057663 137062461 + AL807752.2 antisense 1 3 3 0 0 3 5 1 2 ENSG00000229258 chr1 211829846 211853703 + AL445488.1 antisense 102723727 1 1 2 1 2 8 1 1 3 ENSG00000229259 chr1 32423214 32426789 - LRRC37A12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229261 chr10 69215333 69232490 - AL596223.1 antisense 101928994 0 0 0 0 0 0 0 0 0 ENSG00000229262 chr20 18059493 18071008 + AL160411.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229263 chr7 30796691 30803410 - AC004691.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229266 chr22 21282881 21284161 + POM121L8P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229267 chr2 214810229 214963274 + AC016708.1 antisense 0 0 0 0 0 0 2 0 3 ENSG00000229268 chr9 13986175 13987909 + PES1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229269 chrX 140931738 140997448 + AL451048.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229271 chr3 16687986 16697479 - AC091493.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229272 chr10 119003536 119003884 - AL157788.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229273 chr9 39809562 39810019 + BX664615.1 processed_pseudogene 2 2 7 6 2 5 5 4 0 ENSG00000229274 chr6 29497509 29510556 + AL662860.1 lincRNA 105375009 0 0 0 0 0 0 0 0 0 ENSG00000229275 chr22 48141542 48143229 + BX284656.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229276 chr6 111360641 111361607 - REV3L-IT1 sense_intronic 0 0 0 2 0 0 0 0 0 ENSG00000229278 chr10 99651595 99659284 - AL133353.1 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000229280 chr1 4175528 4175899 - EEF1DP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229281 chr6 29537704 29538787 - GPR53P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229282 chr6 3055849 3057357 + AL031963.2 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000229283 chr1 111317600 111323981 - AL356387.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229286 chr22 15901791 15901911 + AP000522.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229287 chr13 92180715 92180885 - FABP5P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229288 chr9 88187735 88190202 - AL451142.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229289 chr21 19130523 19134423 + AP000431.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229291 chr1 235957879 235971825 - AL139161.1 lincRNA 2 0 1 0 1 0 0 0 0 ENSG00000229292 chr19 55769141 55773179 + RFPL4AL1 protein_coding 729974 GO:0005654, GO:0000785, nucleoplasm, chromatin, GO:0046872, GO:0004842, metal ion binding, ubiquitin-protein transferase activity, GO:0045893, GO:0016567, positive regulation of transcription, DNA-templated, protein ubiquitination, 0 0 0 0 0 1 0 0 3 ENSG00000229294 chr1 65279456 65306521 - AL139294.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229297 chr9 106584142 106591952 - AL451140.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229298 chr9 21811621 21812347 - TUBB8P1 processed_pseudogene 0 1 0 2 3 3 0 0 0 ENSG00000229299 chr20 63744689 63745958 + AL121845.1 antisense 8 0 9 12 11 13 1 2 5 ENSG00000229301 chr7 63354457 63359306 + AC006455.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229302 chrY 18276607 18277495 - TAF9P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229303 chr13 45436121 45436660 + PPIAP25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229305 chr1 8189824 8192770 + AL358876.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229306 chr21 12999676 13016692 - AP001464.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229307 chr13 62323657 62328833 + LINC00459 lincRNA 100874180 0 0 0 0 0 0 0 0 0 ENSG00000229308 chrY 4036497 4100320 + AC010737.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000229309 chr13 81250438 81302407 + AL353633.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229310 chrX 25591353 25591808 - RPP40P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229311 chr9 42579414 42586534 - BX088651.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229312 chr9 69472466 69494513 + AL353693.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229313 chr6 25041839 25056664 + AL133268.3 antisense 3 1 1 2 2 13 0 0 6 ENSG00000229314 chr9 114323056 114326475 + ORM1 protein_coding This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]. 5004 GO:1904724, GO:0072562, GO:0070062, GO:0062023, GO:0035580, GO:0031093, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, GO:0005576, tertiary granule lumen, blood microparticle, extracellular exosome, collagen-containing extracellular matrix, specific granule lumen, platelet alpha granule lumen, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, extracellular region, GO:0005515, protein binding, GO:0043312, GO:0032760, GO:0032732, GO:0032731, GO:0032720, GO:0032715, GO:0006954, GO:0006953, GO:0002682, GO:0002576, neutrophil degranulation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 production, positive regulation of interleukin-1 beta production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, inflammatory response, acute-phase response, regulation of immune system process, platelet degranulation, 109 30 300 75 24 145 91 15 165 ENSG00000229315 chr6 99993944 100076413 + MCHR2-AS1 antisense 728012 0 0 0 0 0 0 0 0 0 ENSG00000229316 chr1 50398825 50399773 - HMGB1P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229320 chr3 160565447 160569248 + KRT8P12 transcribed_processed_pseudogene 38 42 47 47 50 81 52 37 52 ENSG00000229321 chr2 206866795 206868289 + AC008269.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229322 chrX 149649174 149650124 - AC244197.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229323 chr13 50520933 50527449 - DLEU1-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229324 chrX 71016531 71016905 - NUTF2P7 processed_pseudogene 0 0 0 0 2 0 0 1 0 ENSG00000229325 chr3 195280723 195282741 - ACAP2-IT1 sense_intronic 42 72 85 93 153 106 101 83 107 ENSG00000229326 chr2 119698623 119700151 + AC069154.1 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000229327 chr10 32347397 32374488 + AL391839.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000229330 chr17 66676372 66677404 + AC006947.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000229331 chrX 30671635 30672166 + GK-IT1 sense_intronic 65 59 62 79 180 131 164 86 85 ENSG00000229332 chr1 60097415 60097976 + PGBD4P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229334 chr3 194632923 194645401 + AC046143.1 antisense 7 7 8 18 12 15 17 6 11 ENSG00000229335 chrX 115840964 115843050 + DANT1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229336 chr21 19739709 19740150 + AP000568.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229337 chr2 177155622 177212662 - AC079305.3 antisense 4 2 3 5 17 3 1 7 0 ENSG00000229338 chr9 98890590 98891937 + AL136084.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229339 chr3 42051181 42051694 - AC093414.1 processed_pseudogene 5 1 1 0 2 0 0 0 1 ENSG00000229343 chrY 25813013 25814566 + CDY22P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229344 chr1 632757 633438 + MTCO2P12 unprocessed_pseudogene 0 0 1 0 0 0 2 0 0 ENSG00000229345 chr9 95599438 95606326 - AL392185.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229347 chrX 35058927 35059974 + AL596268.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229348 chr1 43453927 43456995 + HYI-AS1 3prime_overlapping_ncRNA 0 1 0 0 0 0 1 0 2 ENSG00000229349 chr6 46204729 46207386 + ACTG1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229351 chr17 41271311 41271835 + KRTAP9-11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229352 chr2 216799608 216805335 + AC007563.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229356 chr21 44450986 44455284 - LRRC3-DT antisense 100861510 0 0 0 0 0 0 0 0 0 ENSG00000229357 chr1 150903896 150904213 + CYCSP51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229358 chr7 32580949 32761787 - DPY19L1P1 unprocessed_pseudogene 23 14 39 17 33 20 16 21 29 ENSG00000229359 chr1 69919322 69920317 + PIN1P1 transcribed_processed_pseudogene 5301 0 0 0 0 0 0 0 0 0 ENSG00000229360 chr2 106940880 106941482 - PPP1R2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229361 chr11 49081907 49083097 + UBTFL7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229365 chr7 157087955 157088543 - AC006967.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229367 chr1 229570532 229570796 + HMGN2P19 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229368 chr11 3854612 3855399 + AC090587.2 sense_overlapping 3 2 11 1 2 1 2 10 12 ENSG00000229369 chr9 127300093 127300982 - AL450263.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229370 chr2 13537673 13609168 + AC073062.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229372 chr1 43447776 43448644 - SZT2-AS1 antisense 100873952 50 48 63 59 45 74 53 39 47 ENSG00000229373 chr13 113888306 113923512 + LINC00452 lincRNA 643365 0 0 0 0 0 0 0 0 2 ENSG00000229375 chr13 19015487 19019336 - USP24P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229376 chr1 722092 724903 + CICP3 processed_pseudogene 4 6 2 1 7 4 1 7 6 ENSG00000229379 chr7 15841297 15842360 - AC006041.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229380 chr7 561958 565619 + AC147651.1 antisense 101927000 0 0 0 0 0 0 0 0 0 ENSG00000229382 chr21 45336707 45338665 + BX322557.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229384 chrX 36211096 36211635 + HMGB1P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229385 chr2 79493716 79500844 - AC010975.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229386 chr11 124476963 124482870 - OR8B9P transcribed_unprocessed_pseudogene 0 0 0 4 0 0 0 0 1 ENSG00000229388 chr1 28643228 28648581 + LINC01715 lincRNA 105378616 GO:0005692, U11 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 1 0 0 0 1 0 1 0 ENSG00000229389 chr15 30052942 30073064 - AC111152.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229390 chr6 29970801 29972464 - MICD unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229391 chr6 32552713 32560022 - HLA-DRB6 transcribed_unprocessed_pseudogene 3128 0 0 0 0 0 0 0 0 0 ENSG00000229393 chr1 2493437 2494479 - AL139246.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229395 chr2 192629919 192645706 + AC062039.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229398 chr20 41382383 41383107 + AL031667.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229399 chr1 222641414 222641858 - AL592148.1 processed_pseudogene 0 5 1 1 0 0 0 0 0 ENSG00000229400 chr1 224717504 224730662 - AL596330.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229401 chr6 10434316 10456781 + MIR5689HG lincRNA 106660610 0 0 0 0 0 0 0 0 0 ENSG00000229402 chr14 99158416 99159669 + AL162151.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000229403 chr7 51614251 51630870 + AC005999.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229404 chr10 84279980 84294659 + LINC00858 lincRNA 170425 0 0 0 0 0 0 0 0 0 ENSG00000229405 chr2 7736438 7737095 - AC092580.1 processed_pseudogene 2 1 3 1 0 3 2 1 1 ENSG00000229406 chrY 18453150 18472137 - OFD1P4Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229407 chr1 179816184 179818191 - AL359853.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229409 chr22 49845929 49846090 + AL117328.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229413 chr7 128653690 128654019 - AC018638.1 processed_pseudogene 123 157 180 171 208 207 188 173 118 ENSG00000229414 chr11 2840135 2861568 - KCNQ1-AS1 antisense 338653 0 0 0 0 0 0 0 0 0 ENSG00000229415 chr14 36473288 36513829 - SFTA3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000229416 chrY 21677246 21681118 - USP9YP8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229417 chr10 96189366 96190219 - NPM1P25 processed_pseudogene 0 2 0 0 0 0 0 2 0 ENSG00000229418 chr10 96292685 96306695 - AL136181.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229419 chr9 105520128 105526359 + RALGAPA1P1 processed_pseudogene 28 32 30 22 26 26 40 10 17 ENSG00000229421 chr3 25441164 25441502 - AC133141.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229422 chr9 62837139 62838302 - AL512625.2 lincRNA 2 4 1 0 2 0 0 0 0 ENSG00000229423 chr13 47766640 47767085 - RPL27AP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229424 chr7 36750687 36763081 + AC007349.1 lincRNA 1 0 3 2 1 6 0 0 0 ENSG00000229425 chr21 15370500 15627342 - AJ009632.2 lincRNA 105369302 0 0 0 0 0 0 0 0 0 ENSG00000229427 chr13 31311289 31312921 + ANKRD26P4 processed_pseudogene 6 0 1 0 0 0 0 0 0 ENSG00000229431 chr1 43385113 43389155 + AL139289.1 antisense 64 51 59 23 44 32 29 39 32 ENSG00000229433 chr3 184756389 184773155 - LINC02069 lincRNA 101928992 0 0 0 0 0 0 0 0 0 ENSG00000229434 chr2 176506245 176507702 - AC017048.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229435 chr7 159231435 159233377 + PIP5K1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229436 chr7 80662331 80662585 - AC073850.1 processed_pseudogene 0 1 0 0 3 0 0 0 0 ENSG00000229437 chr13 38576640 38578994 + LINC00366 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229440 chr1 68381441 68381657 - AL139413.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229442 chr18 8486997 8513849 + THEMIS3P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229443 chr13 88540864 88545509 + LINC00433 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229444 chr1 43709392 43727343 - AL451062.1 antisense 101929592 1 1 0 0 0 0 1 0 0 ENSG00000229447 chr1 31263245 31263681 - AC114495.2 processed_pseudogene 2 4 2 5 0 4 4 0 2 ENSG00000229452 chr7 29080284 29082527 + AC005162.1 antisense 107986703 0 0 0 0 0 0 0 0 0 ENSG00000229453 chr3 48306842 48328341 - SPINK8 protein_coding 646424 GO:0005576, extracellular region, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 5 3 6 5 20 8 13 12 9 ENSG00000229454 chr9 85756042 85765112 - AL157882.1 lincRNA 0 0 2 2 4 1 0 1 0 ENSG00000229455 chr10 124489823 124490578 - RPS10P18 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000229456 chr13 40618738 40621348 + RLIMP1 processed_pseudogene 1 3 4 3 5 0 5 6 12 ENSG00000229457 chr2 107254691 107365873 - LINC01789 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229458 chr10 82224213 82229179 - AC010157.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229459 chr7 46261064 46294469 + AC023669.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229462 chr2 68445710 68449174 - AC127383.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229463 chr1 235839483 235840182 + LYST-AS1 antisense 14 18 29 4 14 3 6 4 14 ENSG00000229465 chrY 18147884 18149008 + ACTG1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229466 chr10 105808775 105819197 - AL731574.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229468 chr3 20012452 20012606 + RPL39P18 processed_pseudogene 3 2 2 2 2 5 9 2 0 ENSG00000229473 chr13 40992779 40993331 - RGS17P1 processed_pseudogene 29 45 46 105 199 233 149 124 158 ENSG00000229474 chr15 44665732 44711316 - PATL2 protein_coding 197135 GO:1990904, GO:0005737, GO:0005634, GO:0000932, ribonucleoprotein complex, cytoplasm, nucleus, P-body, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0033962, GO:0017148, GO:0010607, GO:0000290, P-body assembly, negative regulation of translation, negative regulation of cytoplasmic mRNA processing body assembly, deadenylation-dependent decapping of nuclear-transcribed mRNA, 186 300 354 243 375 338 228 245 247 ENSG00000229478 chr7 51600286 51600573 - ROBO2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229483 chr13 23169835 23170597 - LINC00362 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229484 chr1 12527724 12528420 + AC243836.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229485 chr10 42149310 42149549 - KSR1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229486 chr1 84015865 84018371 - AC104454.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229487 chrX 111706649 111711101 - ALG13-AS1 antisense 0 2 3 4 3 4 3 0 0 ENSG00000229491 chrX 45183251 45333917 + AC136489.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229492 chr22 17418697 17419828 + FO681548.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229494 chr2 78088730 78127806 + AC012494.1 lincRNA 101927948 0 0 0 0 0 0 0 0 0 ENSG00000229495 chr6 78809715 78813303 - AL450327.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229497 chr7 43767290 43767599 + AC005189.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229498 chr2 85815130 85825391 + AC105053.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000229500 chr20 20253303 20253838 - RPL17P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229502 chr6 157872571 157875210 - AL391863.1 antisense 6 2 18 11 6 9 1 1 9 ENSG00000229503 chr2 62532583 62533059 - AC092155.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229505 chr1 86029854 86030589 + AC104455.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229508 chr7 57060590 57061301 - PHKG1P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229509 chr1 206333327 206333438 - AC244023.1 unprocessed_pseudogene 1 3 0 1 7 0 0 0 0 ENSG00000229511 chr9 38486859 38488338 - GAS2L1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229512 chr11 1763009 1763749 - AC068580.1 sense_intronic 24 58 34 92 50 46 107 91 71 ENSG00000229515 chr3 46142358 46143677 - FLT1P1 processed_pseudogene 40 25 25 30 35 23 32 20 18 ENSG00000229518 chrY 3866306 3866722 - UBE2V1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229519 chr1 6547905 6548619 + AL591866.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229520 chr13 112106095 112106882 - LINC00404 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229521 chr13 77080511 77081190 - MYCBP2-AS2 sense_intronic 1 3 0 0 0 0 1 0 0 ENSG00000229522 chr20 47983404 47984313 + LINC01523 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229525 chr2 219388496 219403633 + AC053503.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229526 chr17 18450244 18475920 + KRT16P4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229528 chr1 40863914 40876670 + AC119677.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229530 chr9 92339658 92341663 - AL136097.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229531 chr1 174934947 174954261 - Z99127.1 antisense 101928696 0 0 0 0 0 0 1 1 0 ENSG00000229532 chr7 132086266 132087992 + AC105443.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229533 chr7 19144293 19146253 + AC003986.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229534 chr11 5571247 5572192 - HNRNPA1P53 processed_pseudogene 0 1 0 1 0 0 0 0 0 ENSG00000229536 chr2 129825126 129877553 - LINC02572 lincRNA 105373615 0 0 0 0 0 0 0 0 0 ENSG00000229537 chr1 62975751 63022504 - LINC01739 lincRNA 105378769 0 0 0 0 0 0 0 0 0 ENSG00000229539 chr20 3888239 3888868 - AL353194.1 antisense 3 1 12 0 0 4 0 2 2 ENSG00000229541 chr9 100975668 100976682 + GAPDHP26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229543 chr10 78293842 78301003 + AC010163.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000229544 chr10 124445239 124450184 - NKX1-2 protein_coding 390010 GO:0005634, GO:0000785, nucleus, chromatin, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0007275, GO:0006357, cell differentiation, multicellular organism development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000229546 chr13 42842414 42842887 - LINC00428 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229547 chrX 84934151 84934890 + UBE2DNL transcribed_processed_pseudogene 100131816 GO:0005634, nucleus, GO:0061631, ubiquitin conjugating enzyme activity, GO:0031145, GO:0030071, GO:0000209, anaphase-promoting complex-dependent catabolic process, regulation of mitotic metaphase/anaphase transition, protein polyubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000229549 chrY 9357797 9360599 + TSPY8 protein_coding 728403 GO:0005634, nucleus, GO:0042393, GO:0003682, histone binding, chromatin binding, GO:0030154, GO:0007506, GO:0007283, GO:0006334, cell differentiation, gonadal mesoderm development, spermatogenesis, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000229550 chr2 4136644 4140731 - AC012445.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229551 chrY 20861337 20862337 + GAPDHP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229553 chrY 22049755 22058113 - USP9YP17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229554 chr1 47497894 47498341 - RPL21P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229557 chr13 91127613 91131407 - LINC00379 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229558 chr13 23418971 23428869 + SACS-AS1 lincRNA 100506680 0 0 0 0 0 0 0 0 0 ENSG00000229559 chr6 37543553 37547280 - AL353597.2 transcribed_processed_pseudogene 0 0 1 9 2 7 9 2 4 ENSG00000229560 chr2 82268427 82269927 - LYARP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229562 chrX 137660519 137662242 + ZFYVE9P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229563 chrX 45505388 45630202 + LINC01204 lincRNA 101927528 0 0 0 0 0 0 0 0 0 ENSG00000229565 chr4 117834401 117869948 + LINC02264 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000229567 chr1 93278961 93279129 - AL139421.1 processed_pseudogene 0 0 1 0 0 2 0 0 0 ENSG00000229568 chr2 136544712 136545542 + SMC4P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229569 chr10 79000484 79003803 - AL356753.1 lincRNA 0 0 2 0 0 1 2 0 0 ENSG00000229570 chr1 119495836 119496841 - GAPDHP58 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229571 chr1 13068677 13077884 + PRAMEF25 protein_coding 441873 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000229572 chr3 42340588 42342367 + EIF4BP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229578 chr13 62003525 62029548 - LINC00358 lincRNA 100874143 0 0 0 0 0 0 0 0 0 ENSG00000229579 chr4 9334658 9336609 + USP17L26 protein_coding 728379 0 0 0 0 0 0 0 0 0 ENSG00000229582 chr9 125743754 125746552 - AL358074.1 processed_transcript 0 0 0 0 0 0 3 0 2 ENSG00000229585 chr4 53986587 53987058 - RPL21P44 processed_pseudogene 6 4 5 3 4 0 1 8 9 ENSG00000229586 chr17 20481330 20483991 - TNPO1P3 processed_pseudogene 0 0 3 0 0 1 1 1 3 ENSG00000229587 chr9 75009828 75016036 - AL158825.2 sense_intronic 0 1 1 0 2 0 0 1 5 ENSG00000229588 chr1 166334884 166335762 + AL390115.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229589 chr3 38451027 38454820 - ACVR2B-AS1 antisense 100128640 1 0 0 2 2 0 1 0 0 ENSG00000229590 chr17 58157028 58157800 + MSX2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229591 chr7 152120001 152121717 - AC006017.1 antisense 26 19 45 19 43 39 21 20 19 ENSG00000229593 chr2 25079901 25081689 - SUCLA2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229594 chrX 55633031 55635656 - AL159987.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229595 chr1 231117831 231118325 - AL109810.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229596 chr6 33338978 33339495 + MYL8P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229598 chr22 38722743 38723505 - PRDX3P1 processed_pseudogene 110 197 107 135 175 183 193 141 177 ENSG00000229599 chr13 100940862 100944364 - LINC00411 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229600 chr6 93886900 93889410 + AL391336.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229601 chrX 71413834 71414086 - AL590762.4 processed_pseudogene 1 0 4 0 1 0 0 0 1 ENSG00000229603 chr7 108909453 108952666 + AC004014.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229604 chr2 87824942 87825143 + MTATP8P2 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000229605 chr10 28898996 28899484 - RPL21P93 processed_pseudogene 1 0 0 0 1 1 2 0 0 ENSG00000229606 chr20 61079140 61080179 + LINC01718 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229607 chr1 30810378 30815553 - AL137027.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229608 chr22 42784462 42787100 + GOLGA2P4 unprocessed_pseudogene 1 5 2 1 0 6 5 2 0 ENSG00000229609 chr13 27373348 27374366 + LINC01079 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229611 chr9 6704471 6707780 + AL354707.2 lincRNA 0 0 0 1 0 0 0 0 3 ENSG00000229612 chr1 168898136 168898439 + SUMO1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229613 chr9 90463524 90582744 - LINC01501 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229616 chr10 80017713 80017911 - AL356095.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229618 chr7 12726152 13751920 + AC011287.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229619 chr3 152262616 152269555 - MBNL1-AS1 antisense 401093 158 155 189 53 60 90 106 68 81 ENSG00000229621 chr2 21687434 21710623 - LINC01822 lincRNA 645949 0 0 0 0 0 0 0 0 0 ENSG00000229622 chr13 95692538 95693972 + MTND5P2 processed_pseudogene 1 2 3 2 1 0 5 0 2 ENSG00000229623 chr21 39235386 39236020 - METTL21AP1 processed_pseudogene 0 0 0 0 0 0 1 1 0 ENSG00000229625 chr8 98961428 98968284 + AC016877.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229626 chr7 107808734 107809568 + PIGCP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229627 chr7 57638725 57639112 + BSNDP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229628 chr7 45990905 46000898 + AC073115.1 lincRNA 0 1 2 0 1 0 0 0 4 ENSG00000229629 chr10 102089968 102090062 + AL500527.2 processed_pseudogene 0 0 0 0 2 0 0 1 0 ENSG00000229630 chr10 42979017 42981507 - LINC01264 lincRNA 104266963 0 0 0 0 0 0 0 0 0 ENSG00000229635 chr1 93384487 93384998 - AL137159.1 processed_pseudogene 0 0 0 0 2 0 2 0 1 ENSG00000229636 chr1 73104792 73106282 + KRT8P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229637 chr17 48723168 48724758 + PRAC2 protein_coding This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 360205 GO:0005634, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000229638 chr3 185417495 185418778 - RPL4P4 processed_pseudogene 28 18 25 45 29 62 42 22 55 ENSG00000229639 chr1 69433255 69435409 + LINC01758 lincRNA 105378788 0 0 0 0 0 0 0 0 0 ENSG00000229641 chr2 164321933 164322223 + CYP2C56P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229642 chr3 5962842 6124120 + AC087857.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229643 chrY 6357219 6361413 - LINC00280 lincRNA 100873964 0 0 0 0 0 0 0 0 0 ENSG00000229644 chr10 36521721 36524234 - NAMPTP1 processed_pseudogene 15611 12837 18034 4798 6241 7381 7045 6880 6519 ENSG00000229646 chr6 14597514 14599690 - AL109914.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000229647 chr2 207239650 207245887 + MYOSLID lincRNA 105373853 36 37 51 30 51 48 45 35 48 ENSG00000229648 chr2 85490930 85491780 - RPSAP22 processed_pseudogene 0 0 5 1 2 0 0 0 0 ENSG00000229649 chr10 101252821 101263550 - AL133387.2 lincRNA 101927419 0 0 0 0 0 0 0 0 0 ENSG00000229652 chr1 203353365 203353651 - AL359837.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000229654 chr6 106695535 106699994 + LINC02526 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229656 chr10 32958845 33082102 + ITGB1-DT lincRNA 0 0 0 1 0 0 2 0 0 ENSG00000229657 chr1 204946608 204947169 + AL391822.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229658 chr22 16423943 16426031 + PABPC1P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229659 chr10 73422259 73422696 - RPL26P6 processed_pseudogene 4 0 4 3 7 0 1 0 4 ENSG00000229660 chr7 157281536 157282686 - AC004975.2 lincRNA 1 1 0 0 0 0 0 0 0 ENSG00000229661 chrX 75201491 75201790 + BUD31P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229662 chrX 48244894 48245745 + AC245047.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229663 chr1 248771635 248773792 - DPY19L4P1 processed_pseudogene 2 9 2 3 15 17 4 7 11 ENSG00000229664 chr10 6025978 6036427 + AL137186.1 antisense 3 1 9 0 0 4 8 0 3 ENSG00000229665 chr13 57140918 57157082 + PRR20C protein_coding 729240 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000229666 chr5 67001383 67003953 - MAST4-AS1 antisense 0 0 0 0 1 0 0 0 0 ENSG00000229667 chrX 90289536 90289903 - UBE2V1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229668 chr10 114501997 114502347 - AL133384.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229670 chr2 209178966 209181123 + PKP4P1 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000229671 chr11 1897015 1908656 + LINC01150 lincRNA 0 1 0 1 0 1 0 0 0 ENSG00000229672 chr10 3751067 3763226 + AL450322.2 antisense 6 0 1 1 7 0 0 1 0 ENSG00000229673 chr22 32783177 32784982 + Z73495.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229674 chrX 37994252 37994918 + AL121578.2 protein_coding 1 0 0 0 0 0 0 0 0 ENSG00000229676 chr19 22634324 22667670 + ZNF492 protein_coding 57615 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000229677 chr7 139049456 139050006 - AC018644.1 processed_pseudogene 7 6 14 12 3 15 9 3 14 ENSG00000229679 chr7 36229280 36231107 - AC007327.2 antisense 0 1 3 5 5 0 3 6 2 ENSG00000229682 chr2 106368209 106368876 - AC114755.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229686 chr20 2656624 2656694 + SNORD56 snoRNA 26793 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000229687 chr1 53841547 53841832 + AL049745.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229688 chr7 16210488 16270604 + ISPD-AS1 antisense 100506025 0 0 0 0 2 0 0 0 0 ENSG00000229689 chr2 95525345 95532405 + AC009237.3 transcribed_unprocessed_pseudogene 0 0 1 0 0 0 2 3 0 ENSG00000229690 chr20 60414396 60414872 - MTCO2P1 processed_pseudogene 2 2 0 1 0 0 0 0 0 ENSG00000229692 chr2 38992279 38993857 - SOS1-IT1 sense_intronic 16 7 18 15 9 17 24 6 8 ENSG00000229693 chrX 96620654 96621903 + AL606530.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229694 chr9 91119062 91182762 + LINC00484 lincRNA 100129347 1 0 2 0 0 0 0 0 0 ENSG00000229695 chr2 43680465 43681622 - AC011242.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229696 chr13 41925598 41927349 + KARSP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229697 chr9 61898805 61911022 - FAM242E lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229699 chr1 153174518 153191676 + AL161636.1 lincRNA 101928009 0 0 0 0 0 0 0 0 0 ENSG00000229700 chr6 20042455 20042940 - AL008627.1 processed_pseudogene 3 1 2 1 2 2 0 6 2 ENSG00000229701 chr2 155264163 155264823 - MTND2P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229703 chr1 248691760 248716755 + CR589904.1 transcribed_unitary_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000229704 chr3 185245460 185246441 - EIF2S2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229707 chr9 39485379 39485865 + SKP1P3 processed_pseudogene 1 0 0 0 5 0 0 0 0 ENSG00000229708 chr13 73407768 73408352 - MARK2P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229709 chrY 25579790 25588444 + USP9YP36 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229711 chr10 50822692 50824525 - AL512366.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000229713 chr1 152737518 152737868 + LCEP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229715 chr13 31952580 31953361 + EEF1DP3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229716 chr1 8831007 8831375 + RPL23AP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229717 chr4 75830751 75832705 + AC110615.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229719 chr11 64889560 64893449 - MIR194-2HG lincRNA 9 16 22 552 644 734 513 351 400 ENSG00000229720 chr6 169034197 169035642 - AL109924.2 lincRNA 101929460 0 0 0 0 0 0 0 0 0 ENSG00000229721 chr5 180226378 180227000 - AC104115.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229722 chr6 134606299 134609437 - AL078590.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229723 chr13 114329559 114333948 - LINC01054 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229724 chr1 158796014 158796213 + OR2AQ1P unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000229725 chrY 21871331 21873550 + AC007322.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229727 chr2 7421261 7450254 + AC013460.1 processed_transcript 100506274 0 0 0 0 0 0 1 0 0 ENSG00000229728 chr20 1361622 1362585 + AL136531.1 antisense 0 4 3 1 2 7 2 4 3 ENSG00000229730 chr2 110012265 110012601 - AC013268.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229731 chrX 27811885 27812902 + AC107613.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229732 chr17 41500983 41502409 + AC019349.1 antisense 1 4 2 0 4 0 0 0 0 ENSG00000229733 chrX 123558350 123558584 + AL030996.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229735 chrX 38484752 38485264 - FTLP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229738 chr5 132987652 132988110 - AC010240.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000229739 chr1 186435161 186470291 + AL596220.1 antisense 102724919 2 2 2 2 5 1 7 4 0 ENSG00000229740 chr2 8139402 8143269 + U91324.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000229742 chr1 224297646 224298600 + AC092809.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229743 chr2 104865497 104872595 - LINC01159 processed_transcript 102682016 0 0 0 0 0 0 0 0 0 ENSG00000229744 chr2 178017993 178018465 + AC011998.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229745 chrY 7932997 7937640 - BPY2DP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229747 chr1 199908921 199909648 + AL445687.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229749 chr17 16853935 16854309 + COTL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229750 chr2 175167904 175168522 + AC096649.1 antisense 19 17 21 8 9 16 11 15 4 ENSG00000229751 chr10 13991815 14007526 + AC044781.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229752 chr1 81098267 81099005 - RPL7P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229753 chr9 72741152 72741617 - RPS27AP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229754 chr2 218059155 218065729 - CXCR2P1 transcribed_unprocessed_pseudogene 5 8 8 5 4 12 3 9 5 ENSG00000229755 chr20 61077224 61077816 - AL121910.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229756 chr3 24430748 24431107 + RPL31P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229757 chr1 168578653 168579439 - AL031736.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229758 chr2 128199901 128200195 + DYNLT3P2 processed_pseudogene 1 3 0 2 1 0 4 0 1 ENSG00000229759 chr3 48256350 48256938 - MRPS18AP1 processed_pseudogene 8 4 7 13 7 6 6 1 7 ENSG00000229760 chrX 55178207 55178737 - MTCO1P52 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229761 chr21 35724747 35725100 - RPS20P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229762 chr7 55810779 55811411 - AC092647.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229765 chr6 10213881 10214362 - AL354868.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229766 chr20 8019223 8043512 + AL021396.1 antisense 2 3 3 5 5 11 2 4 9 ENSG00000229769 chr7 142424965 142425465 + TRBV10-2 TR_V_gene 0 0 0 3 0 0 0 0 0 ENSG00000229770 chr22 26161910 26163214 - AL022337.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229771 chr20 40696499 40698616 - AL035665.1 lincRNA 0 0 0 0 0 0 0 2 0 ENSG00000229774 chr2 120686635 120710517 - AC018866.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229775 chr10 106140264 106188722 + AL353148.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229776 chr6 32032713 32036258 - C4B-AS1 antisense 102060414 0 0 0 0 0 5 3 0 0 ENSG00000229779 chr2 175904371 175905502 - AC016751.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229780 chr1 154553609 154555017 + UBE2Q1-AS1 antisense 100874097 72 73 86 30 46 22 38 42 38 ENSG00000229781 chr2 142854095 142855998 + AC013444.1 processed_pseudogene 0 1 0 0 0 0 0 0 3 ENSG00000229782 chr17 4497394 4499674 - AC118754.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000229785 chr1 172748560 172749502 + SLC25A38P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229786 chr1 25887360 25887610 + SNRPFP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229788 chr13 18610298 18611675 - LINC00388 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229791 chr13 19408042 19409529 - AL356259.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229792 chr13 109400696 109401641 + LINC00399 lincRNA 104326054 0 0 0 0 0 0 2 0 0 ENSG00000229794 chrX 102806741 102807824 + MTCYBP32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229795 chr1 235432985 235433231 + RPS21P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229797 chr2 130743538 130755879 - AC140481.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229798 chr2 74306728 74308008 - KRT18P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229800 chr13 32477274 32478841 + ATP8A2P2 processed_pseudogene 9 7 21 14 13 24 16 10 8 ENSG00000229805 chr2 56077417 56090382 - LINC01813 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229806 chr3 54626215 54626646 + RPS15P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229807 chrX 73820651 73852723 - XIST lincRNA X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]. 7503 GO:0016458, GO:0009048, gene silencing, dosage compensation by inactivation of X chromosome, 2 0 0 0 0 0 0 0 0 ENSG00000229808 chr1 161890833 161892196 + AL391825.1 transcribed_processed_pseudogene 54 45 34 86 85 58 67 35 55 ENSG00000229809 chr16 30569346 30572734 - ZNF688 protein_coding 146542 GO:0005575, GO:0000785, cellular_component, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, molecular_function, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0000122, biological_process, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 38 48 42 37 51 61 61 54 44 ENSG00000229814 chr9 71589601 71589933 + RPL35AP21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229815 chr1 44958557 44959395 + CCNB1IP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229816 chr2 32201600 32203999 + DDX50P1 processed_pseudogene 7 5 5 6 19 8 16 7 10 ENSG00000229817 chr9 114845594 114848585 + AL133412.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000229820 chr1 28453541 28453934 + CR391992.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229821 chr1 201222113 201223123 - AC103925.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229822 chrX 41748222 41748608 + AL353691.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229824 chr13 68654572 68655050 + RPL12P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229826 chrX 52735901 52736107 - AC244505.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229827 chr2 169577371 169577746 - AC093899.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229828 chr1 148080598 148093883 + PDE4DIPP1 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229829 chrX 149817170 149817644 + DUTP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229830 chr9 103065416 103065598 + AL589823.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229831 chr2 61820208 61820566 + AC108039.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229832 chr1 212357418 212358353 + AL360091.1 sense_intronic 4 5 4 2 6 14 2 11 13 ENSG00000229833 chr19 7629737 7631956 + PET100 protein_coding Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 100131801 GO:0031305, integral component of mitochondrial inner membrane, GO:0051082, unfolded protein binding, GO:0033617, mitochondrial cytochrome c oxidase assembly, 119 143 79 63 69 58 77 64 42 ENSG00000229834 chr9 29636486 29636853 + AL354676.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229835 chr9 21695176 21696943 + KHSRPP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229836 chr6 31307815 31308549 - AL671883.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229839 chr2 62069447 62146881 - AC018462.1 antisense 0 2 1 4 0 0 1 0 0 ENSG00000229840 chr1 229042171 229042591 + ISCA1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229842 chr1 93925406 93926072 - MTATP6P13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229846 chr1 49025595 49187585 + AC099788.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229847 chr10 117473215 117545068 - EMX2OS antisense 196047 0 1 0 0 0 0 0 1 0 ENSG00000229848 chr17 81514047 81527776 + AC139149.1 antisense 0 0 1 0 1 7 2 2 8 ENSG00000229849 chr1 158878746 158883500 + PYHIN5P unprocessed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000229851 chrX 2904904 2906081 + ARSD-AS1 antisense 100506356 18 13 35 18 8 19 3 13 12 ENSG00000229852 chr6 73263215 73301401 + AC019205.1 antisense 3 1 0 11 1 5 8 6 4 ENSG00000229853 chr20 47630266 47631438 - AL034418.1 processed_pseudogene 0 1 0 0 6 8 7 2 0 ENSG00000229854 chr9 121574891 121576214 - AL357936.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229855 chr5 121199704 121357398 + AC008568.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229857 chr9 76992099 76993108 + AL353637.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229858 chr7 130822868 130823219 - AC016831.1 processed_pseudogene 0 0 0 0 0 0 0 3 0 ENSG00000229859 chr11 61203307 61213098 + PGA3 protein_coding This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]. 643834 GO:0097486, GO:0070062, multivesicular body lumen, extracellular exosome, GO:0004190, aspartic-type endopeptidase activity, GO:0044267, GO:0007586, GO:0006508, cellular protein metabolic process, digestion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000229862 chr6 73523618 73570596 + AL121972.1 antisense 2 1 0 3 0 10 0 1 9 ENSG00000229863 chr3 57134142 57134723 + AC097358.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229865 chr13 78422823 78423192 + RPL31P54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229867 chr2 119244422 119249071 - STEAP3-AS1 antisense 100874111 0 1 0 0 0 0 2 0 0 ENSG00000229869 chr10 933026 942743 + AL359878.2 antisense 101927762 0 0 0 10 1 0 1 5 0 ENSG00000229870 chr10 49815096 49815562 + RPL21P89 processed_pseudogene 0 2 0 2 7 0 1 1 0 ENSG00000229871 chr1 56207567 56208456 - RPSAP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229873 chr20 62800627 62805587 - OGFR-AS1 antisense 101409261 20 23 19 12 18 17 8 8 0 ENSG00000229875 chr9 659986 660326 + EIF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229876 chr20 6446723 6528459 + CASC20 lincRNA 101929244 0 0 0 0 0 0 0 0 0 ENSG00000229877 chr7 143545186 143546735 - PAICSP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229878 chr10 33035469 33035664 - AL365203.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229880 chr21 44675868 44678086 - IMMTP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229881 chr7 64140495 64150058 + AC091685.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229882 chr20 62633772 62635862 + AL450469.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229885 chrX 52801400 52801529 - AC244505.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229886 chr7 66025126 66031544 - AC068533.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229887 chr1 58047889 58049335 - HNRNPA1P6 transcribed_unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229890 chr2 108099110 108099492 + ACTP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229891 chr22 42364400 42369236 - LINC01315 lincRNA 102723775 2 2 0 1 1 7 1 0 1 ENSG00000229892 chr20 42606694 42607559 + AL035666.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229893 chr7 27733064 27740395 - AC005091.1 antisense 150 141 239 43 51 61 51 45 44 ENSG00000229894 chr4 165277812 165279679 - GK3P protein_coding 8 11 18 19 35 33 8 19 10 ENSG00000229896 chr6 12007670 12008856 + AL157373.2 lincRNA 0 0 0 0 0 2 2 2 0 ENSG00000229897 chr9 98606833 98608133 + SEPT7P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229899 chr12 40286289 40286662 + AC084290.1 processed_pseudogene 6 0 8 0 6 3 7 0 3 ENSG00000229900 chr20 45539983 45540227 - HSPD1P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229901 chr1 41375004 41375669 - AC093151.2 antisense 101929901 0 0 0 0 0 0 0 0 0 ENSG00000229905 chr1 760911 761989 + AL669831.2 antisense 1 0 0 1 0 2 1 0 0 ENSG00000229906 chr13 51496020 51496251 - SNRPGP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229907 chr8 7934412 7938770 - DEFB108A unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229909 chr7 56631739 56632727 - TRIM60P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229910 chr13 68301605 68303302 - HNRNPA1P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229911 chr1 118712999 118713678 + AL139148.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229912 chr3 197450327 197456654 - AC128709.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229913 chr1 56823679 56826920 - AL360295.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229914 chr1 158195633 158196131 - AL138899.2 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000229915 chr2 238427077 238427729 - AC016999.1 antisense 3 2 4 1 0 0 1 0 0 ENSG00000229917 chr16 11027024 11027763 + RPL7P46 processed_pseudogene 0 2 0 2 0 1 0 1 0 ENSG00000229918 chr13 98832084 98834629 + DOCK9-AS1 antisense 100874096 2 0 0 0 0 0 0 0 0 ENSG00000229919 chr10 10174230 10174577 + ELOCP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229920 chr2 63642455 63644038 - RPS4XP5 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000229921 chr6 167992822 167997077 - KIF25-AS1 lincRNA 100505879 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000229922 chr6 137945366 137972522 + LINC02528 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000229923 chr6 130697312 130697778 + AL583803.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229924 chr4 9170409 9176730 + FAM90A26 protein_coding 100287045 0 0 0 0 0 0 0 0 0 ENSG00000229925 chr21 38888772 38903905 + AP001043.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229926 chr9 138137095 138143864 + AL591424.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229927 chr10 46634911 46635466 - RHEBP1 processed_pseudogene 0 0 1 1 0 0 0 3 0 ENSG00000229928 chr13 43158631 43159466 + LINC00400 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229930 chr1 224030704 224035056 - AC138393.2 unprocessed_pseudogene 0 0 0 0 3 8 0 0 0 ENSG00000229931 chr6 16761138 16762652 + AL137003.1 antisense 11 22 94 15 5 15 11 9 25 ENSG00000229932 chr10 23136924 23137661 + YWHAZP3 processed_pseudogene 35 19 29 8 9 7 18 11 5 ENSG00000229935 chr2 155314066 155314368 + MTCYBP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229937 chr7 18026774 18027863 - PRPS1L1 protein_coding This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]. 221823 GO:0005737, GO:0005575, GO:0002189, cytoplasm, cellular_component, ribose phosphate diphosphokinase complex, GO:0042803, GO:0016301, GO:0005524, GO:0005524, GO:0004749, GO:0004749, GO:0004749, GO:0000287, protein homodimerization activity, kinase activity, ATP binding, ATP binding, ribose phosphate diphosphokinase activity, ribose phosphate diphosphokinase activity, ribose phosphate diphosphokinase activity, magnesium ion binding, GO:0016310, GO:0009156, GO:0009116, GO:0006164, GO:0006015, GO:0006015, phosphorylation, ribonucleoside monophosphate biosynthetic process, nucleoside metabolic process, purine nucleotide biosynthetic process, 5-phosphoribose 1-diphosphate biosynthetic process, 5-phosphoribose 1-diphosphate biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000229938 chr13 109101261 109101919 - MYO16-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229939 chrX 111618808 111619094 + AL589880.1 processed_pseudogene 1 2 3 5 3 3 7 7 1 ENSG00000229940 chrY 22305925 22307951 - TSPY22P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229941 chr2 177698429 177723289 + AC012499.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229943 chr1 74963314 74965118 + AC133865.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229944 chr17 49424269 49424922 - EIF4EP2 processed_pseudogene 18 15 34 21 11 27 18 26 27 ENSG00000229946 chrX 99886740 99887691 - B3GNT2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229948 chr2 69597353 69598951 + B3GALNT1P1 processed_pseudogene 0 1 0 0 1 1 4 0 0 ENSG00000229949 chr7 21400920 21401613 - AC005094.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229950 chr6 10409340 10416446 + TFAP2A-AS1 antisense 1 0 2 0 0 0 0 0 0 ENSG00000229951 chr2 28384409 28394672 - FLJ31356 antisense 403150 4 5 10 597 1017 921 644 936 842 ENSG00000229953 chr1 156646507 156661424 - AL590666.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229954 chrX 102786813 102788387 + MTND2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229955 chr22 38387918 38388857 - Z98749.1 sense_intronic 3 6 7 2 6 14 0 3 17 ENSG00000229956 chr1 71081324 71489976 + ZRANB2-AS2 processed_transcript 0 1 0 0 0 0 0 0 0 ENSG00000229957 chr20 46168404 46171237 - AL031687.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229960 chr1 244068820 244093026 - AL590483.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229961 chr1 157171116 157191963 + AL357143.1 transcribed_unitary_pseudogene 2 1 1 1 0 0 1 1 4 ENSG00000229962 chr21 25515473 25518338 - AP000221.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229964 chr3 194091561 194109174 + AC080129.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229965 chr1 226438564 226439344 + AL359704.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229967 chrX 151904431 151913968 - MAGEA4-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229968 chrX 47776827 47778697 - AL022578.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229969 chr10 87009785 87015782 - AL136982.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229970 chr7 8262264 8344516 + AC007128.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229971 chr22 36552165 36552700 + AL022313.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229972 chr3 51826883 51830856 + IQCF3 protein_coding 401067 GO:0005516, GO:0005515, calmodulin binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000229975 chr13 102002125 102003310 + LIPT1P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000229976 chr20 39785721 39813229 + AL118523.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229977 chr7 143532749 143533164 - AC073264.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229978 chr1 13128818 13131615 + PRAMEF36P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229979 chrX 153052150 153052413 - AC243428.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000229980 chr17 50866679 50909737 + TOB1-AS1 processed_transcript 400604 8 9 23 12 17 10 12 11 13 ENSG00000229981 chr10 107694973 108197849 - LINC01435 lincRNA 103695365 2 0 0 2 0 0 0 0 0 ENSG00000229982 chr7 118880103 118881288 - GTF3AP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229983 chr1 212168207 212190259 + AL606468.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000229985 chr1 27176751 27177277 + AL590640.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229986 chr21 38846247 38848644 + AP001042.1 lincRNA 0 0 0 5 0 0 0 0 0 ENSG00000229988 chr11 5241105 5243537 - HBBP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000229989 chr1 198807493 198937429 - MIR181A1HG lincRNA 1 2 0 4 0 0 2 0 0 ENSG00000229990 chr10 73841833 73847115 + AC022400.2 antisense 5 12 7 6 2 12 4 6 2 ENSG00000229991 chr1 224574434 224575389 + AKR1B1P1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000229992 chr1 92647048 92647630 - HMGB3P9 processed_pseudogene 1 1 0 0 1 4 2 0 0 ENSG00000229994 chr1 35350722 35351607 + RPL5P4 processed_pseudogene 2 1 3 6 5 7 8 1 7 ENSG00000229996 chr2 241010045 241010744 - AC093585.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000229999 chr22 40372664 40388290 - AL022238.2 antisense 2 0 0 1 0 0 1 0 1 ENSG00000230000 chr7 63348861 63351774 + AC006455.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000230001 chr9 4070906 4071884 - AL359095.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000230002 chr2 73456764 73459482 + ALMS1-IT1 sense_intronic 1 2 19 9 8 1 9 5 11 ENSG00000230003 chr9 72445754 72445969 - AL445646.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230005 chr1 227743831 227747191 - SNAP47-AS1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000230006 chr2 88765807 88806612 + ANKRD36BP2 transcribed_unprocessed_pseudogene 645784 4 2 4 10 0 6 6 0 7 ENSG00000230009 chr13 57204379 57204799 + MTCO2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230010 chr20 18322552 18359300 - AL049646.1 lincRNA 0 0 0 0 0 2 0 1 0 ENSG00000230011 chr10 50705380 50708906 - CTSLP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230013 chr9 104990796 104991781 - AL359182.2 lincRNA 1 0 1 0 0 0 4 0 1 ENSG00000230014 chr10 9275833 9287057 + LINC00709 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230015 chr1 240739419 240739853 - AL365184.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230018 chr10 113482616 113483113 + PPIAP39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230019 chr1 238107736 238108567 - YWHAQP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230020 chrX 17552349 17557387 - NHS-AS1 antisense 100873920 0 0 0 0 0 0 0 0 0 ENSG00000230021 chr1 586071 827796 - AL669831.3 transcribed_processed_pseudogene 101928626 8 17 27 24 16 24 18 14 22 ENSG00000230022 chr13 21530690 21531323 + FNTAP2 processed_pseudogene 2 2 4 0 1 0 5 2 2 ENSG00000230023 chr1 24200240 24211693 + AL590683.1 lincRNA 284632 0 0 0 0 0 0 0 0 0 ENSG00000230025 chrY 8971751 8974095 - AC007967.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230026 chr1 235361153 235362540 + AL357556.1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000230027 chr1 76041691 76066228 + AC092813.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230029 chrY 21696570 21698220 + CDY11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230030 chr9 108252154 108254820 - AL353742.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230031 chr15 20835372 20866314 - POTEB2 protein_coding 100287399 0 0 0 0 0 0 0 0 0 ENSG00000230033 chr7 156944721 156945645 + AC006357.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230035 chr1 18166929 18179346 - IGSF21-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230037 chr2 136329441 136329913 - UBBP1 processed_pseudogene 0 0 0 0 3 1 0 1 0 ENSG00000230039 chrX 65821255 65822249 - AL450487.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230040 chr13 67372387 67379976 + LINC00364 lincRNA 100874145 0 0 0 0 0 0 0 0 0 ENSG00000230042 chr7 23129178 23129841 + AK3P3 processed_pseudogene 6 2 5 3 2 4 1 1 0 ENSG00000230043 chr20 50840615 50840749 - TMSB4XP6 processed_pseudogene 16 16 5 2 8 4 3 9 8 ENSG00000230044 chr2 11665369 11665969 - AC110754.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230045 chr8 7256904 7259914 + FAM90A15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230046 chr2 32377631 32379599 - BIRC6-AS1 antisense 10 10 14 7 5 5 4 5 17 ENSG00000230047 chr2 231437101 231437421 - AC017104.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230051 chr22 27331787 27379265 + AL020994.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230052 chr7 64105654 64105995 - MTND3P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230053 chr1 88498309 88498676 - AC093578.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230054 chr9 114656304 114662374 - TEX53 protein_coding 105376230 0 0 1 3 0 4 0 0 0 ENSG00000230056 chr6 29329626 29331061 - DDX6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230061 chr21 44414588 44425272 - TRPM2-AS antisense 1 0 0 0 0 13 1 1 1 ENSG00000230062 chr6 46746917 46759506 + ANKRD66 protein_coding 100287718 1 2 0 4 4 5 4 3 8 ENSG00000230063 chr1 212297448 212299579 + AL360091.2 sense_intronic 1 3 0 0 0 0 0 1 0 ENSG00000230064 chr9 133338990 133339465 + AL772161.1 processed_pseudogene 5 10 11 3 9 14 4 12 7 ENSG00000230065 chr2 132660526 132666990 + AC010974.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230066 chrY 9497287 9506566 - FAM197Y3 transcribed_unprocessed_pseudogene 107987341 0 0 0 0 0 0 0 0 0 ENSG00000230067 chr3 36767117 36784167 - HSPD1P6 transcribed_processed_pseudogene 1 0 2 7 8 0 3 0 2 ENSG00000230068 chr1 22059197 22064199 + CDC42-IT1 sense_intronic 7 7 9 17 32 26 18 6 11 ENSG00000230069 chr4 102727274 102730721 - LRRC37A15P processed_pseudogene 4 3 11 3 6 2 7 1 3 ENSG00000230071 chr22 40586700 40588003 - RPL4P6 processed_pseudogene 28 13 19 31 39 34 37 29 30 ENSG00000230073 chrY 23523321 23525369 + AC009947.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230074 chr9 34665665 34681298 + AL162231.2 antisense 13 19 10 33 79 50 56 80 69 ENSG00000230076 chr2 214847128 214847445 + RPL10P6 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000230077 chr3 189969030 189969861 - MTAPP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230079 chrX 136295690 136300298 - STK24P1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000230080 chr11 1802889 1804095 - AC139143.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230081 chr9 112280978 112281335 - HSPE1P28 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000230082 chr3 9947404 9954787 + PRRT3-AS1 antisense 100874032 5 2 3 8 6 9 1 1 0 ENSG00000230083 chr2 95590969 95591206 - AC009237.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230084 chr3 42601963 42654388 - AC006059.1 antisense 89 58 93 90 82 92 102 59 101 ENSG00000230086 chr19 40121311 40122168 - VN1R96P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230087 chr11 5354692 5355578 + AC104389.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230088 chr17 20493634 20494155 - KRT16P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230090 chr2 5618327 5691118 - AC108025.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000230091 chr10 80046860 80078912 - TMEM254-AS1 antisense 3 2 0 8 1 4 0 2 5 ENSG00000230092 chr1 800879 817712 - AL669831.4 transcribed_unprocessed_pseudogene 9 6 19 10 8 13 10 13 14 ENSG00000230096 chr10 4415305 4426179 - AC022535.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230097 chr9 29824742 29826711 - ME2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230098 chr10 131095218 131095777 + TCERG1L-AS1 antisense 101927489 0 0 0 0 0 0 0 0 0 ENSG00000230099 chr7 142462916 142463581 + TRBV5-4 TR_V_gene 1 1 3 13 0 9 4 4 4 ENSG00000230100 chrX 48333675 48334439 - AL606490.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230101 chr7 134734898 134735129 - TUBB3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230102 chr3 194005259 194070970 - LINC02028 processed_transcript 285389 0 0 0 0 0 0 0 0 0 ENSG00000230104 chr2 172674212 172674898 - AC018712.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000230105 chrX 56618391 56624458 + AL354793.1 lincRNA 0 1 0 1 0 0 2 0 5 ENSG00000230106 chr8 7170550 7170741 + SNRPCP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230107 chr22 42438023 42446195 + AL022316.1 lincRNA 1 6 6 5 10 12 3 2 7 ENSG00000230109 chr10 21340233 21372950 - AL158209.1 lincRNA 105376444 0 0 0 0 0 0 0 0 0 ENSG00000230111 chr3 31269007 31269406 + AC115283.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230112 chr10 20841375 20841560 + AL157398.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230113 chr17 30956280 30956961 - AC138207.1 antisense 5 2 10 3 4 5 6 0 0 ENSG00000230114 chr1 49257411 49269285 + AL590432.1 antisense 101929721 0 0 0 0 0 0 0 0 0 ENSG00000230115 chr3 189238686 189240594 - TPRG1-AS2 antisense 100874027 1 0 0 0 0 0 1 1 0 ENSG00000230116 chr1 42491739 42492493 + AL445669.1 processed_pseudogene 1 0 0 0 2 0 0 0 0 ENSG00000230118 chr2 30746444 30746701 - AC092569.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000230119 chr3 33190233 33190328 - AC123900.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230120 chr22 32159454 32160392 - AL008723.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230121 chr10 7533207 7536565 + AL445070.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230122 chr2 232349754 232351309 - ECEL1P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230123 chr3 38325237 38329070 - DLEC1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230124 chr1 180269653 180502954 - ACBD6 protein_coding 84320 GO:0005829, cytosol, GO:0008289, GO:0005515, GO:0000062, lipid binding, protein binding, fatty-acyl-CoA binding, GO:0006637, acyl-CoA metabolic process, 50 63 65 114 67 84 142 39 102 ENSG00000230125 chr10 30301823 30302072 - EEF1A1P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230126 chr3 192515022 192516573 + FGF12-AS2 antisense 100873987 0 0 0 0 0 0 0 0 0 ENSG00000230130 chrX 143434517 143435280 + MTND2P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230131 chr10 123356450 123517708 + AL160290.2 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000230132 chr7 63480598 63480989 - AC006457.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230133 chr20 24199767 24224588 + LINC01721 lincRNA 400839 0 0 0 0 0 0 0 0 0 ENSG00000230137 chr22 30439837 30440318 + AC004832.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230138 chr1 53366668 53368245 - AC119428.2 lincRNA 0 0 0 0 0 1 0 1 4 ENSG00000230140 chr2 100972648 100977161 - AC016738.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000230142 chr13 62212577 62249947 + LINC01075 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230146 chrX 73769248 73770423 + SEPHS1P4 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000230147 chr9 91169585 91170045 - AL158071.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000230148 chr17 48543551 48551250 + HOXB-AS1 antisense 100874362 6 0 10 10 5 26 11 4 8 ENSG00000230149 chr22 38734730 38738990 + AL021707.3 antisense 152 167 209 150 193 214 157 165 171 ENSG00000230153 chrX 150915813 150920938 + AF274573.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230154 chr2 11308025 11308941 + AC018463.1 processed_pseudogene 1 4 9 2 2 2 2 2 3 ENSG00000230155 chr20 35476203 35490982 - FO393401.1 antisense 9 8 7 3 3 18 5 9 12 ENSG00000230156 chr13 106653916 106672163 + LINC00443 lincRNA 100874173 0 0 0 0 0 0 0 0 0 ENSG00000230157 chr14 105536861 105537239 - ATP5MC1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230158 chr2 117023918 117024867 + MTND1P28 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230159 chrX 116692910 116694188 - BX119904.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230160 chr7 44919669 44920329 + AC004854.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230161 chr9 100912320 100912741 + AL162395.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230162 chrX 135942478 135947139 - CT45A11P unprocessed_pseudogene 3 2 1 1 2 0 0 0 0 ENSG00000230163 chr1 34850694 34851555 + AL122010.1 antisense 21 25 18 27 22 39 18 13 12 ENSG00000230164 chr6 29475025 29476071 - MAS1LP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230165 chr10 114246074 114246714 + AURKAP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230166 chr10 49909613 49909942 + RPL35AP24 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000230169 chr8 112538889 112539317 + RPL30P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230170 chrX 119220782 119221742 + HNRNPA1P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230171 chr10 80125941 80126317 + RPL22P18 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000230172 chr3 14764952 14767440 - AC090957.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230173 chr2 194730595 194761435 + LINC01790 lincRNA 101927431 0 0 0 0 0 0 0 0 0 ENSG00000230174 chr6 31441667 31446973 + LINC01149 lincRNA 101929111 0 0 0 0 0 0 0 0 0 ENSG00000230175 chr1 165671256 165671725 + AL451074.4 processed_pseudogene 0 0 2 0 3 0 2 0 0 ENSG00000230176 chr20 4193065 4195943 + LINC01433 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230177 chr6 111277932 111278742 + AL080317.1 antisense 2 3 5 6 9 7 9 5 3 ENSG00000230178 chr5 181367268 181368262 + OR4F3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26683 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000230180 chrX 16803233 16803353 + RPL12P49 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000230182 chr3 5068676 5069044 - RNF10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230183 chr15 56005715 56007176 - CNOT6LP1 processed_pseudogene 8 5 4 3 5 7 0 1 0 ENSG00000230184 chr1 246321663 246322438 - SMYD3-IT1 sense_intronic 0 0 1 0 1 0 0 0 0 ENSG00000230185 chr9 112433816 112487204 - C9orf147 antisense 3 3 1 1 8 7 9 5 4 ENSG00000230186 chr1 143905487 143934776 + AC246680.1 antisense 0 0 0 2 3 0 0 0 0 ENSG00000230187 chrX 70672895 70673515 - AL139109.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230188 chr9 37490421 37490893 - AL158156.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000230189 chr7 66427949 66453634 - AC008267.2 transcribed_unprocessed_pseudogene 3 1 5 0 1 1 2 2 0 ENSG00000230190 chr7 147671711 147673143 + AC005518.1 sense_intronic 105375556 0 0 0 0 0 0 0 0 0 ENSG00000230191 chr7 56163145 56163533 + AC006970.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230192 chr7 109660094 109660802 + AC073387.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230194 chr22 19238443 19238739 - AC000081.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230196 chr7 81610884 81611326 - DDX43P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230197 chr17 19077775 19087878 + AC007952.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230198 chr21 19593841 19594108 + RPL37P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230199 chr1 242975005 242975084 + AL603825.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230201 chr17 4856757 4857374 - ATP6V0CP1 processed_pseudogene 1 1 2 0 1 0 0 0 2 ENSG00000230202 chr6 117998975 117999448 + AL450405.1 processed_pseudogene 171 182 330 512 287 751 445 291 470 ENSG00000230203 chr22 26422071 26423193 - Z99714.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230204 chr6 50912712 50913256 - FTH1P5 processed_pseudogene 1 0 0 2 0 0 1 0 1 ENSG00000230205 chr6 148133809 148137404 - AL359382.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230207 chr9 7477045 7478320 - RPL4P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230208 chr9 21058771 21059323 - IFNNP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230212 chr21 36069642 36126640 - AP000688.1 sense_intronic 100133286 2 2 3 9 3 15 4 1 2 ENSG00000230213 chr11 56188379 56189251 - OR8V1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230214 chr1 36630335 36630857 + FTLP18 processed_pseudogene 0 0 0 0 0 5 0 2 0 ENSG00000230215 chr3 184546714 184556918 - LINC01840 antisense 100874079 0 0 0 0 0 0 0 0 0 ENSG00000230216 chrX 49233956 49234501 - HSPB1P2 processed_pseudogene 0 0 0 1 0 0 0 1 0 ENSG00000230219 chr4 183037665 183040119 + FAM92A1P2 transcribed_processed_pseudogene 403315 0 0 0 0 0 0 0 0 0 ENSG00000230221 chr9 95292338 95294810 + AL157384.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230223 chr13 70107213 70139429 + ATXN8OS antisense 0 0 0 0 0 0 0 0 0 ENSG00000230224 chr10 100248271 100249095 + PHBP9 processed_pseudogene 19 23 34 15 22 15 19 16 8 ENSG00000230225 chr9 5109496 5110762 + MTND5P14 unprocessed_pseudogene 4 5 7 9 13 22 26 6 23 ENSG00000230226 chr20 63502287 63505111 + AL121829.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230227 chrX 35626142 35627064 + SIAH1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230228 chr1 23949016 23949383 - AL590609.2 processed_pseudogene 1 0 0 0 0 0 1 1 1 ENSG00000230229 chr10 78352597 78356100 + AC010163.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230231 chr1 166474745 166481565 + FMO7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230233 chr21 18614431 18650360 + AF240627.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230234 chr6 160272617 160276130 + AL162582.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230237 chr2 79573764 79575593 - AC010975.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230239 chr1 16855407 16859284 + BX284668.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230240 chr10 31983885 31984554 + RPL34P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230241 chrX 48135658 48136159 - AC244636.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230243 chr13 46505118 46505436 + FKBP1AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230244 chr7 83663419 83664625 + RAD23BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230245 chr9 42636788 42637139 - BX088651.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230246 chr9 87914493 87923505 + SPATA31C1 transcribed_unprocessed_pseudogene 441452 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000230247 chrX 80529037 80530027 + HNRNPH3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230248 chr6 108275642 108276546 + Z98742.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230249 chrX 3112900 3113596 - AC112653.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230250 chr1 55915607 55944974 - LINC01753 lincRNA 105378739 0 0 0 0 0 0 0 0 0 ENSG00000230251 chr2 154286589 154287425 + PHBP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230252 chr7 64110547 64111550 - MTND2P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230256 chr13 26905362 26905861 + FGFR1OP2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230257 chr7 102973437 102988856 + NFE4 protein_coding 341 311 269 115 271 161 142 256 125 ENSG00000230258 chr17 70017324 70128859 - AC005208.1 antisense 0 0 0 1 0 3 0 1 0 ENSG00000230260 chr1 197437976 197447469 - AL136322.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230261 chr11 5037013 5037951 + OR52J2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230262 chr9 94176602 94204568 - LINC02603 lincRNA 158257 53 65 42 328 396 394 363 258 303 ENSG00000230265 chrX 26557675 26558330 + AC079178.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230266 chr3 195147871 195152790 + XXYLT1-AS2 antisense 101410543 2 4 0 0 0 9 0 3 0 ENSG00000230267 chr16 32103245 32188107 - HERC2P4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000230268 chr7 124476371 124476955 + SSU72P8 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000230269 chr6 3182744 3195756 - LINC02525 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230271 chr7 57772584 57773199 - AC023141.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230273 chr17 17981192 17981572 - AC087163.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230274 chr3 40322715 40323279 - PGAM1P3 processed_pseudogene 0 0 0 0 3 0 2 0 0 ENSG00000230275 chrX 91560436 91561597 - SERBP1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230276 chr9 29254075 29254426 - AL162388.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230280 chr1 202911812 202912729 + HNRNPA1P59 processed_pseudogene 15 13 29 1 5 0 7 3 3 ENSG00000230282 chr2 163152251 163153307 - RPL7P61 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000230283 chr13 37220860 37221246 - RPS12P24 processed_pseudogene 17 10 12 6 4 9 27 6 17 ENSG00000230284 chr9 114695922 114696315 - AL160275.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000230285 chr1 85599131 85600734 + AC092807.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230286 chr2 26950308 27009807 - AC013472.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230287 chr1 100249090 100249311 + AL445928.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000230289 chr9 131516558 131522229 - AL358781.2 antisense 4 5 5 11 15 19 4 7 10 ENSG00000230290 chr6 108922976 108924103 - ARMC2-AS1 antisense 4 9 3 3 6 14 6 7 2 ENSG00000230291 chr12 80102899 80103333 - AC078817.1 processed_pseudogene 1 2 0 12 0 3 7 12 10 ENSG00000230292 chr3 175079307 175115242 - NAALADL2-AS3 processed_transcript 100862679 0 0 0 0 0 0 0 0 0 ENSG00000230294 chr12 131347470 131367555 + LINC02370 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230295 chr7 66880708 66882981 + GTF2IP23 unprocessed_pseudogene 6 8 6 2 9 0 8 2 10 ENSG00000230298 chr10 30576699 30580182 + AL590068.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230299 chr2 85262144 85262267 - AC093162.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230300 chr13 33158587 33164409 - STARD13-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000230301 chr3 98263252 98265356 + OR5H6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. 79295 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000230302 chr9 101793454 101793756 - MTND3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230303 chr9 85785722 85793480 - AL353743.2 lincRNA 2 3 7 2 0 8 4 1 3 ENSG00000230304 chr3 198223497 198226310 - CICP6 processed_pseudogene 0 1 0 0 0 0 1 2 0 ENSG00000230305 chr7 76524515 76532692 + AC004980.3 unprocessed_pseudogene 1 0 0 3 1 0 3 3 0 ENSG00000230306 chr10 133344643 133344906 - BANF1P2 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000230307 chr12 55311835 55312757 + OR6C5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230309 chr6 78604467 78606036 - AL121718.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230310 chr19 12552597 12553644 + AC010422.1 lincRNA 0 0 2 0 1 0 0 0 0 ENSG00000230311 chrX 73223124 73223558 + TOMM20P4 processed_pseudogene 5 5 5 5 6 9 0 5 0 ENSG00000230312 chrX 103928099 103929017 + AC234782.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230313 chr6 33144783 33147767 + HCG24 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230314 chr6 11043524 11078226 + ELOVL2-AS1 antisense 100506409 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000230316 chr7 122303658 122310077 + FEZF1-AS1 antisense 154860 0 0 0 0 0 0 0 0 0 ENSG00000230317 chrX 51095844 51171400 - LINC01284 lincRNA 101926971 0 0 0 2 0 0 0 0 0 ENSG00000230318 chr1 220313945 220315565 - XRCC6P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230319 chr22 43038585 43052366 + AL022476.1 antisense 100506679 0 1 0 0 1 3 0 1 0 ENSG00000230320 chrX 102705784 102706240 + BEND7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230321 chr19 12504905 12505976 + MTCO2P27 unprocessed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000230322 chr10 11168922 11171376 - AL136320.1 antisense 11 8 9 3 6 9 10 5 14 ENSG00000230323 chr21 32080316 32197813 - LINC00159 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000230324 chr20 39213777 39224748 - LINC01734 lincRNA 339568 0 0 0 0 0 0 0 0 0 ENSG00000230325 chr1 236540094 236550280 - AL359921.1 antisense 14 15 21 17 28 44 20 15 22 ENSG00000230326 chrX 9865093 9865543 - HMGN1P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230327 chr2 50588690 50589415 - MTCO1P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230328 chr9 101358932 101361242 + AL359893.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230330 chr16 26032539 26032811 - HMGN2P3 processed_pseudogene 11 16 24 9 13 6 15 3 17 ENSG00000230331 chr1 229425020 229425650 + AL160004.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230333 chr7 11180902 11520175 + AC004160.1 processed_transcript 0 0 1 0 0 0 2 0 0 ENSG00000230335 chr9 76931261 76932066 - DNAJB5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230337 chr1 11099675 11102100 + AL109811.2 antisense 105376736 7 1 7 12 3 3 11 9 0 ENSG00000230338 chr10 94774156 94774633 - MTND4P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230339 chr17 20554137 20554380 + AC015818.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230342 chr3 11859674 11891172 + FANCD2P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230343 chr2 97034442 97034706 + AC018892.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230345 chr22 47860671 47862062 + AL121580.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230347 chrX 120948422 120951744 - CT47A8 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. 728049 0 0 0 0 0 0 0 0 0 ENSG00000230350 chr6 136973930 136974217 - RPL35AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230352 chr20 59360927 59364773 - AL035250.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230353 chr2 106288803 106289053 - AC114755.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230355 chr2 66881087 66881222 - AC009474.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230356 chr7 34750253 34752053 - NCAPD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230358 chr7 67279778 67286230 + SPDYE21P unprocessed_pseudogene 7 5 2 2 6 1 8 1 4 ENSG00000230359 chr7 129055223 129057239 + TPI1P2 transcribed_processed_pseudogene 286016 2 1 5 0 2 3 3 0 0 ENSG00000230360 chr9 82086155 82088768 - DDX10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230361 chr7 63377329 63378233 + VN1R32P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230362 chr3 175977497 175978570 - ACTG1P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230364 chr1 171683128 171684438 - RPL4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230365 chr9 11275314 11276314 - AL451129.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230366 chr21 37208503 37221736 + DSCR9 lincRNA 257203 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 2 0 0 0 0 1 ENSG00000230368 chr1 868071 876903 - FAM41C lincRNA 284593 0 0 0 0 1 3 4 0 0 ENSG00000230370 chr7 11006399 11006876 - RPL23AP52 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230371 chr13 113130416 113132054 + KARSP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230373 chr15 84507885 84516814 - GOLGA6L5P transcribed_unprocessed_pseudogene 642402 5 0 7 2 4 4 3 3 1 ENSG00000230375 chr6 52847910 52870329 - GSTA11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230376 chrX 123765301 123765686 + MEMO1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230377 chrY 18532326 18532656 - ELOCP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230379 chr21 24938431 24992817 - AP000146.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230381 chr1 116429049 116433368 - AL136376.1 lincRNA 0 1 0 0 0 1 1 0 0 ENSG00000230383 chr7 137721985 137722846 + AC009245.1 processed_pseudogene 2 4 12 25 2 22 10 3 6 ENSG00000230384 chr2 176242111 176242993 + RPSAP25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230385 chr2 230908852 230910102 + AC012507.1 antisense 0 4 6 7 1 14 1 0 3 ENSG00000230386 chr7 65617082 65619153 + AC104057.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230387 chr20 23187961 23190307 + AL118508.1 lincRNA 100505664 0 26 4 1 15 0 0 8 0 ENSG00000230390 chr13 37481467 37484769 - LINC01048 lincRNA 103695431 0 0 0 0 0 0 0 0 0 ENSG00000230391 chr2 115468056 115468938 + RPSAP23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230392 chrX 119291529 119335610 + AC004835.1 lincRNA 101928336 0 0 0 0 0 0 0 0 0 ENSG00000230393 chr2 100104919 100107504 + AC092667.1 antisense 0 0 2 2 1 1 0 3 0 ENSG00000230394 chrX 8007378 8018160 + AC078960.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230395 chr2 87118534 87120980 - AC092651.1 unprocessed_pseudogene 1 1 0 0 1 1 0 0 0 ENSG00000230397 chr10 31360955 31361215 + SPTLC1P1 transcribed_processed_pseudogene 4 2 7 5 3 5 8 4 4 ENSG00000230398 chr3 2362258 2362738 + HINT2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230399 chrX 118632375 118634218 - RBBP8P1 processed_pseudogene 6 11 11 30 19 20 22 8 10 ENSG00000230400 chr20 22668484 22685344 - LINC01747 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000230401 chr3 194765238 194768712 - LINC01972 lincRNA 105374293 0 0 0 0 0 0 0 0 0 ENSG00000230402 chr1 100627049 100640613 - LINC01349 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230403 chr13 30995162 30996138 - LINC01066 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230404 chr1 234565298 234570088 + AL161640.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230405 chr13 68634190 68634486 + RPS3AP52 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230406 chr2 221592441 221592861 + AC079834.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230407 chr2 199108584 199110088 + AC018717.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230408 chr2 200780495 200812170 - AC007163.1 antisense 101927795 157 104 183 73 70 83 44 64 52 ENSG00000230409 chr3 37275693 37276598 + TCEA1P2 processed_pseudogene 29 48 34 50 33 31 39 34 29 ENSG00000230411 chr1 247666887 247667841 + OR3D1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230412 chrY 18068483 18068810 + ELOCP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230415 chr1 1275223 1280420 + LINC01786 lincRNA 0 3 3 0 0 0 1 0 4 ENSG00000230416 chr11 56448668 56449592 + OR5M4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230417 chr10 78179185 78551355 + LINC00856 lincRNA 414243 3 1 7 2 0 1 2 4 1 ENSG00000230418 chr9 102055252 102055741 - ARL2BPP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230423 chr6 170735751 170736545 + AL731684.2 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000230424 chr1 19210501 19240704 + AL035413.1 antisense 4 7 4 22 30 35 20 23 22 ENSG00000230425 chr10 42725857 42737159 + RSU1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230426 chr1 187070700 187686622 + ERVMER61-1 lincRNA 104169671 1 0 0 2 0 1 2 0 2 ENSG00000230427 chr1 95061596 95067545 + AC095033.1 antisense 101928098 0 0 0 0 0 0 0 0 0 ENSG00000230428 chr16 451404 453461 + AL049542.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230430 chr4 9329911 9331862 + USP17L25 protein_coding 728373 0 0 0 0 0 0 0 0 0 ENSG00000230432 chr2 219299002 219304130 + AC114803.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230433 chr6 524171 525581 + AL031770.1 antisense 2 3 1 1 2 4 2 2 2 ENSG00000230434 chr1 95351251 95352648 - LINC01650 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230435 chr7 11406955 11414078 + AC004160.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230437 chr20 12305613 12316485 - AL136460.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230438 chr6 2854657 2881407 - SERPINB9P1 lincRNA 18 25 20 38 16 13 22 14 18 ENSG00000230440 chr20 26132887 26134198 - AL391119.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230442 chr7 123584859 123624957 - AC006333.1 antisense 102724555 0 0 0 0 0 0 0 0 0 ENSG00000230444 chr7 1614590 1615325 + TFAMP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230445 chr10 27246350 27259455 - LRRC37A6P transcribed_processed_pseudogene 0 1 0 2 1 0 0 1 0 ENSG00000230447 chr16 30904348 30910208 - CTF2P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230448 chr2 13710531 14400963 - LINC00276 lincRNA 100499171 0 0 0 0 0 0 0 0 0 ENSG00000230449 chr6 30696806 30697535 - RPL7P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230450 chr2 131177618 131178946 - NEK2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230451 chr1 37330852 37330996 + RPS29P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230452 chr2 25204313 25209202 + LINC01381 antisense 106144568 0 0 0 0 0 0 0 0 0 ENSG00000230453 chr9 33524394 33573009 + ANKRD18B protein_coding 441459 0 0 0 0 0 0 0 0 0 ENSG00000230454 chr3 50260303 50263358 + U73166.1 lincRNA 27 9 17 17 16 19 3 16 22 ENSG00000230457 chr3 156809551 156810732 - PA2G4P4 processed_pseudogene 6 4 5 7 3 10 6 5 5 ENSG00000230458 chrY 18578417 18578560 + GPM6BP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230459 chr15 77278465 77278774 + AC060773.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230461 chr1 213817751 213988508 - PROX1-AS1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000230465 chr3 26346681 26347638 - VENTXP4 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000230468 chr10 133657235 133660635 - CLUHP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230469 chr10 69778962 69779838 + RPL5P26 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000230470 chr1 184408337 184412360 + AL078645.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000230471 chr22 15600908 15604882 - AP000532.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230472 chr6 50587607 50637205 - AL135908.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230474 chr13 103444620 103444968 - ATP6V1G1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230476 chrY 22580989 22614081 - OFD1P9Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230477 chr2 75598071 75598559 + AC005034.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230478 chrX 87425583 87425690 - Z96811.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230479 chr21 36430360 36481070 + AP000695.1 antisense 0 0 0 0 0 2 0 0 0 ENSG00000230480 chr3 28447725 28448073 + AC093142.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230481 chr22 16904219 16904696 - IGKV1OR22-5 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230482 chr2 197263111 197263535 + ATP5MC2P3 processed_pseudogene 7 12 11 8 16 28 17 12 19 ENSG00000230483 chr11 2404515 2407908 + AC124057.1 antisense 0 0 0 0 0 3 0 0 0 ENSG00000230484 chr11 5468486 5469422 - OR51A10P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230485 chr22 19630750 19633574 - AC000077.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230487 chr7 1570073 1589626 + PSMG3-AS1 lincRNA 114796 2 5 8 11 4 5 15 6 9 ENSG00000230489 chr1 107964443 107994607 + VAV3-AS1 antisense 100873946 2 1 1 0 0 0 4 0 0 ENSG00000230490 chr13 33355206 33676768 - AL139383.1 lincRNA 0 0 3 0 0 0 0 0 0 ENSG00000230491 chrX 155310247 155310490 + AC234781.4 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000230492 chr20 23010209 23030785 - AL049651.1 antisense 13 17 21 7 18 16 8 7 15 ENSG00000230495 chr20 17599255 17599807 - AL132765.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000230496 chr2 130275592 130276257 + MTCO2P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230497 chr3 175059361 175060031 - EEF1B2P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230498 chr1 77067920 77078482 + AL035409.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230499 chr2 111195963 111206494 + AC108463.2 lincRNA 1 7 3 0 4 0 9 2 0 ENSG00000230500 chr10 27744786 27767794 + MKX-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230501 chr10 45156775 45176925 + ANKRD30BP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230502 chrX 114388988 114389155 - AL953862.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230506 chr20 10173520 10196990 + AL354824.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230507 chr10 86630825 86631628 - RPL7AP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230508 chrX 150993501 150994091 + RPL19P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230510 chr19 46480796 46601200 - PPP5D1 protein_coding 100506012 6 3 1 2 4 1 5 5 8 ENSG00000230513 chr22 21001886 21010342 + THAP7-AS1 antisense 439931 8 6 6 26 19 29 26 22 20 ENSG00000230515 chr2 7671604 7672246 - AC092580.2 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000230516 chr9 32643103 32645026 - AL589642.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230519 chr12 27702338 27702906 + HMGB1P49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230520 chr7 118950386 118951259 - AC092098.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230521 chr6 29887294 29888268 - AL645929.1 unprocessed_pseudogene 1 7 0 2 2 0 1 11 0 ENSG00000230522 chr19 7049321 7051735 + MBD3L2 protein_coding This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008]. 125997 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000230523 chr1 29329620 29350114 - LINC01756 lincRNA 101928460 0 0 0 0 0 0 0 0 0 ENSG00000230524 chr3 15151833 15205959 - COL6A4P1 transcribed_unprocessed_pseudogene This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009]. 344875 0 1 1 3 0 0 0 0 0 ENSG00000230525 chr2 66904436 66971462 + LINC01799 lincRNA 101060019 0 0 0 0 0 0 0 0 0 ENSG00000230526 chr10 71878356 71879107 + AC073370.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230528 chr17 20436337 20447249 + NOS2P3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000230529 chr19 43096456 43097360 - CEACAMP9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230530 chr3 45679043 45689134 - LIMD1-AS1 bidirectional_promoter_lncRNA 5 9 18 20 6 29 15 7 16 ENSG00000230531 chr7 57194257 57196054 + MTND5P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230532 chr17 48931791 48937100 + AC091133.1 antisense 99 87 100 97 110 130 134 126 117 ENSG00000230533 chr6 137657998 137763984 + AL356234.2 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000230534 chr10 35098006 35127020 - AL392046.1 antisense 14 9 11 13 7 39 21 28 9 ENSG00000230535 chr13 22897341 22898005 - BASP1P1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000230536 chr9 128090969 128094457 - AL360268.1 antisense 4 1 0 0 0 1 0 0 0 ENSG00000230537 chr9 91104957 91107304 - AL158071.2 lincRNA 3 0 2 3 0 3 0 0 0 ENSG00000230538 chrX 127390342 127392526 + Z82209.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230539 chr7 36597834 36600120 - AOAH-IT1 sense_intronic 100874264 26 14 27 17 21 41 15 21 34 ENSG00000230542 chrX 2612988 2615347 - LINC00102 lincRNA 100359394 0 0 0 0 0 0 0 0 0 ENSG00000230543 chrX 92515323 92515497 - SNX3P1X processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230546 chr1 58084419 58084559 + AL445193.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230547 chr1 171270954 171271590 - HMGB1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230548 chr2 130278757 130280110 + MTND4P27 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230549 chr8 7332387 7333979 + USP17L1 protein_coding 401447 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006915, GO:0006511, regulation of apoptotic process, protein deubiquitination, apoptotic process, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000230550 chr1 204141408 204143009 + ERLNC1 antisense 101929441 0 0 0 0 2 0 4 0 0 ENSG00000230551 chr5 149494314 149504670 - AC021078.1 processed_transcript 1198 1270 1784 1166 1757 2232 1475 1356 1942 ENSG00000230552 chr2 176724268 176819310 - AC092162.2 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000230555 chr10 43420738 43422100 + AL450326.1 lincRNA 0 1 0 0 0 0 4 2 2 ENSG00000230556 chr7 143578907 143579072 + AC073264.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230558 chr19 42560433 42561750 - CEACAMP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230559 chr2 146194296 146194821 + RPL17P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230561 chr5 127703389 127941634 + CCDC192 protein_coding 728586 0 0 0 1 0 2 0 0 1 ENSG00000230562 chr2 157379724 157380414 - FAM133DP processed_pseudogene 12 13 19 14 20 6 4 6 16 ENSG00000230563 chr20 5471207 5475182 + AL121757.1 lincRNA 0 3 5 0 2 0 0 2 1 ENSG00000230564 chr7 55259809 55260256 - CALM1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230565 chr10 43645942 43648019 + ZNF32-AS2 antisense 414208 5 2 3 5 2 8 16 3 0 ENSG00000230568 chr20 3489529 3491005 - SF3A3P1 processed_pseudogene 0 1 1 1 0 2 4 1 1 ENSG00000230569 chr2 138470656 138473932 + AC114763.2 lincRNA 1 1 1 0 2 1 0 1 0 ENSG00000230570 chr6 7340854 7342056 - AL139095.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230571 chr5 26669346 26669736 + AC113347.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230572 chr2 91686102 91714745 - AC027612.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230573 chr10 3833950 3834728 + AL513303.2 lincRNA 105376365 0 0 0 0 0 0 0 0 0 ENSG00000230575 chr10 76437408 76438775 - AC013286.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230576 chr1 247833349 247834288 - OR6R1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230578 chrX 155348752 155349799 + AC234781.5 transcribed_unprocessed_pseudogene 1 1 2 0 0 0 0 0 0 ENSG00000230580 chr2 218354075 218354572 + AC021016.1 processed_pseudogene 0 0 0 0 1 1 0 0 0 ENSG00000230581 chr9 6834456 6835577 + ACTG1P14 processed_pseudogene 0 2 1 0 4 0 6 2 1 ENSG00000230583 chr7 66809993 66844882 - GTF2IRD1P1 transcribed_unprocessed_pseudogene 729156 385 671 915 176 326 343 150 200 266 ENSG00000230584 chr13 78908919 78910542 + CCT5P2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000230585 chr1 50780340 50781150 + PHBP12 processed_pseudogene 3 3 1 1 0 1 6 2 0 ENSG00000230587 chr2 43097746 43102691 - LINC02580 lincRNA 15 15 10 12 14 9 6 16 13 ENSG00000230589 chr9 10829752 10830308 - IMP3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230590 chrX 73946555 74293574 - FTX lincRNA This gene is located upstream of XIST, within the X-inactivation center (XIC). It produces a spliced long non-coding RNA that is thought to positively regulate the expression of XIST, which is essential for the initiation and spread of X-inactivation. [provided by RefSeq, May 2015]. 100302692 GO:0010628, positive regulation of gene expression, 718 655 744 832 856 987 814 568 943 ENSG00000230592 chrX 100155885 100156773 - RPSAP8 processed_pseudogene 0 0 0 1 0 3 0 0 3 ENSG00000230593 chr11 3892398 3892887 - PPIAP40 processed_pseudogene 4 6 15 13 17 14 7 4 7 ENSG00000230594 chrX 120967886 120971208 - CT47A4 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. 728075 0 0 0 0 0 0 0 0 0 ENSG00000230595 chr2 62561058 62561423 - RSL24D1P2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000230596 chr2 110386377 110388163 - GPAA1P2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230597 chr6 71328942 71329806 + AL136164.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230598 chr6 29212886 29216933 + AL645937.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230599 chr3 10767464 10771718 + AC018495.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230600 chr7 63380466 63385789 - AC073188.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230601 chr9 114666434 114682066 - TEX48 protein_coding 100505478 GO:0005515, protein binding, 0 0 0 0 0 0 1 0 3 ENSG00000230603 chr2 109665209 109665742 + AC011753.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230604 chr1 51859778 51860135 + TSEN15P2 processed_pseudogene 2 3 3 4 3 0 3 3 3 ENSG00000230605 chr7 117264393 117264530 - MTCYBP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230606 chr2 97416165 97433527 - AC092683.1 lincRNA 3 1 5 14 2 10 11 0 9 ENSG00000230607 chr17 19755244 19756207 + AC005722.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230609 chr10 72560264 72560456 + AL513185.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230611 chr2 191174233 191174835 + HMGB1P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230612 chr5 132688681 132723725 + AC004039.1 antisense 0 0 1 0 5 8 2 0 8 ENSG00000230613 chr20 31567707 31573263 - HM13-AS1 antisense 22 28 22 25 66 43 35 53 21 ENSG00000230614 chr7 85381118 85381375 - DYNLL1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230615 chr1 44030443 44115913 + AL139220.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230617 chr7 83424880 83425002 + AC079987.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230618 chr3 109409678 109410084 - H3F3AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230621 chr2 225992981 225993197 - AC068138.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230622 chr6 31611083 31611356 - UQCRHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230623 chr1 200333193 200478360 + AC104461.1 processed_transcript 0 1 6 2 0 3 0 5 2 ENSG00000230626 chr7 129126518 129130793 + AC011005.1 protein_coding 3 2 6 0 2 3 1 1 0 ENSG00000230627 chr6 164108620 164109694 - Z97205.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230628 chr1 234669523 234696153 - AL160408.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230629 chrX 70962964 70963293 + RPS23P8 processed_pseudogene 2 1 0 4 1 4 2 1 2 ENSG00000230630 chr1 172138397 172144840 - DNM3OS antisense 0 0 0 0 4 0 1 0 0 ENSG00000230631 chr6 14229775 14231570 - AL353152.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000230634 chr22 46481329 46481760 - AL031597.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230635 chr9 42950566 42951630 + CYP4F60P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230636 chr20 52890162 52890386 + RPL36P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230637 chr22 25327252 25339975 + AL022324.1 unprocessed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000230638 chr1 41542069 41544310 + AL445933.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230639 chr7 63965834 63966124 - VN1R36P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230641 chr13 27172259 27182998 + USP12-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230643 chr22 15588361 15588478 + AP000533.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230645 chr2 150171423 150301080 + LINC01818 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230646 chr2 130427731 130429225 + KLF2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230647 chr17 14374139 14421026 + AC022816.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230648 chr6 4018843 4021215 - AL138831.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230649 chr7 136025761 136084668 + AC024084.1 lincRNA 0 0 1 0 2 0 0 1 0 ENSG00000230650 chr2 110360608 110363737 - AC140479.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230651 chr2 107823063 107826891 - RGPD4-AS1 lincRNA 729121 0 0 0 0 0 0 0 0 0 ENSG00000230654 chr7 69330698 69331378 - MTCO2P25 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230655 chr3 75370448 75371342 - OR7E55P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230657 chr12 11307083 11310435 - PRB4 protein_coding This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the 'Small' allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]. 5545 GO:0005576, extracellular region, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000230658 chr7 23101228 23105703 - KLHL7-DT lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000230659 chr1 165819353 165819787 + AL451074.5 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000230661 chr10 70485336 70486325 - YY1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230662 chr17 18460391 18463055 + TNPO1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230663 chrY 17552800 17579754 - FAM224B lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230665 chrX 74396871 74399550 - THAP12P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230666 chr19 44537058 44620821 - CEACAM22P transcribed_unprocessed_pseudogene 388550 1 3 0 0 12 0 3 3 1 ENSG00000230667 chr1 92074533 92075441 - SETSIP protein_coding 646817 GO:0005811, GO:0005737, GO:0005654, GO:0005634, GO:0005634, lipid droplet, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0042393, GO:0003682, GO:0003682, histone binding, chromatin binding, chromatin binding, GO:0045944, GO:0045446, GO:0006334, positive regulation of transcription by RNA polymerase II, endothelial cell differentiation, nucleosome assembly, 3 3 1 1 1 1 7 2 9 ENSG00000230668 chrX 140681106 140687705 - AL844175.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230671 chr4 118400514 118400834 - NDUFS5P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230673 chrX 74583088 74583546 - PABPC1P3 processed_pseudogene 55 84 80 54 81 101 84 52 57 ENSG00000230676 chr9 129430652 129451422 - AL353803.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230679 chr1 8878835 8879894 + ENO1-AS1 antisense 100505975 0 0 0 0 0 0 4 0 0 ENSG00000230680 chr7 46477822 46481578 - AC004869.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230681 chr19 43303171 43304523 - CEACAMP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230682 chr7 94782886 94783525 + GRPEL2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230683 chr3 38515448 38515830 - DDTP1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000230684 chr9 129933536 129936541 + AL158207.2 antisense 1 2 0 0 7 1 13 1 0 ENSG00000230686 chr2 191017954 191019079 + AC067945.2 antisense 0 0 0 0 0 0 4 0 0 ENSG00000230687 chr1 175203228 175204849 - AL008626.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230690 chr2 104659337 104664837 + AC013402.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230691 chrX 12844865 12845430 - MRPL35P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230694 chr9 16625676 16626390 + AL450003.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230695 chr2 215436253 215436992 + AC012462.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230696 chr2 109594693 109605698 - AC011753.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000230697 chr3 20007852 20008247 - SAP18P3 processed_pseudogene 1 5 0 5 5 2 5 1 5 ENSG00000230698 chr3 49899302 49903757 + AC105935.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230699 chr1 911435 914948 + AL645608.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230701 chr22 23262767 23265005 + FBXW4P1 processed_pseudogene 26226 13 20 21 33 39 56 24 30 14 ENSG00000230702 chr2 61856695 61857055 + AC107081.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230703 chr1 24066774 24083565 + AL591178.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230704 chr1 169762929 169764648 - AL021940.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230706 chrX 88061590 88062844 - AL035246.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230707 chrX 140091743 140092561 + AL589987.1 processed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000230709 chr17 16975999 16981353 - AC104024.1 lincRNA 284191 0 0 0 1 2 2 3 0 2 ENSG00000230710 chr13 40181809 40189028 + LINC00332 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230711 chr6 168286905 168289350 - CTAGE13P processed_pseudogene 2 1 0 0 1 0 0 0 0 ENSG00000230712 chr22 24248074 24249466 - GGTLC4P unprocessed_pseudogene 0 0 1 2 0 1 1 0 0 ENSG00000230714 chr1 218031835 218033660 + AL355526.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230715 chr7 128652841 128653243 + AC018638.2 processed_pseudogene 206 258 299 260 322 276 210 206 165 ENSG00000230716 chr11 119602875 119604306 - KRT8P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230718 chr1 97774669 97775026 + AC114878.1 processed_pseudogene 1 0 0 0 1 0 0 2 0 ENSG00000230720 chr10 30723251 30723740 + AL451107.1 lincRNA 105376480 0 0 0 0 0 0 0 0 0 ENSG00000230721 chr1 86784913 86785467 + AL049597.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000230724 chr11 127204 139612 - LINC01001 lincRNA 169 359 300 177 493 334 295 260 300 ENSG00000230725 chr20 25140789 25149258 - AL035252.2 lincRNA 284798 0 0 0 0 1 0 4 0 0 ENSG00000230727 chrY 22762851 22769787 - RBMY2WP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230728 chr1 54621477 54628438 - AL590093.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000230729 chr9 34521527 34524241 + AL160270.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000230730 chr2 28633282 28664540 - AC074011.1 antisense 3 22 7 11 16 2 13 10 2 ENSG00000230731 chr13 44234118 44243192 - AL589745.1 lincRNA 0 0 0 1 1 0 1 2 0 ENSG00000230732 chr3 196912646 196914579 + AC016949.1 sense_intronic 39 41 78 12 39 32 29 21 20 ENSG00000230733 chr7 5475804 5479811 + AC092171.2 lincRNA 40 51 39 42 55 29 43 32 60 ENSG00000230734 chr9 117180628 117181095 - RPL10P3 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000230735 chr1 89629725 89676386 + AC093423.2 sense_intronic 0 1 2 0 4 2 1 0 0 ENSG00000230736 chr22 32376664 32384343 + AL021937.1 lincRNA 339666 0 0 0 4 0 3 0 1 2 ENSG00000230737 chr2 29890371 29892354 + AC106870.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230739 chr1 162824795 162849467 + AL392003.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230741 chr22 33320865 33322813 + Z82173.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230746 chr7 145675882 145681369 - AC006007.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230747 chr2 96307263 96321731 - AC021188.1 antisense 2 2 1 3 0 0 2 2 13 ENSG00000230748 chr1 165497724 165498348 + AL157714.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230749 chr2 66439088 66441836 - MEIS1-AS2 antisense 100873998 0 0 0 0 0 0 0 0 0 ENSG00000230750 chr20 10385779 10387806 + SDAD1P2 processed_pseudogene 0 0 0 0 1 2 0 1 0 ENSG00000230751 chr7 30140870 30141417 + AC007036.2 sense_intronic 2 4 6 5 4 6 8 2 6 ENSG00000230753 chr20 33787373 33811097 - ZNF341-AS1 antisense 101929746 7 8 18 26 47 60 38 27 51 ENSG00000230755 chr10 69589880 69590355 - MTATP6P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230756 chr2 130212870 130213490 - RHOQP3 processed_pseudogene 9 6 8 0 4 2 2 2 3 ENSG00000230757 chr3 39643638 39644705 + NFU1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230758 chr20 49038357 49038602 - SNAP23P1 processed_pseudogene 0 1 0 0 0 0 0 2 0 ENSG00000230759 chr1 103414879 103425465 + AC095032.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230764 chr7 57185788 57186202 + MTND1P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230768 chr1 105587575 105618958 - LINC01676 lincRNA 101928476 0 0 0 0 0 0 0 0 0 ENSG00000230769 chr22 40788777 40789267 - Z98048.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230772 chr20 25734264 25735093 + VN1R108P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230773 chr2 47941696 48240983 - AC092650.1 lincRNA 0 0 1 1 1 0 0 0 4 ENSG00000230777 chr1 175921975 175922145 + RPS29P5 processed_pseudogene 1 1 0 1 3 0 2 4 2 ENSG00000230778 chr15 40281444 40282586 - ANKRD63 protein_coding 100131244 0 0 0 0 0 0 0 0 0 ENSG00000230779 chr1 153225080 153226006 + AL161636.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230781 chrX 84973217 84977829 + Z83820.1 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230782 chr9 106974833 107102988 - AL807761.4 antisense 340512 0 0 0 0 0 0 0 0 0 ENSG00000230783 chr2 159689217 159690291 - AC009961.3 processed_pseudogene 2 1 3 1 2 0 1 2 0 ENSG00000230785 chr7 117262918 117264888 - AC006326.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230787 chr1 79054945 79056055 - PSAT1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230788 chrX 106070481 106073202 + AL512661.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230789 chr5 143192500 143194166 + ARHGAP26-IT1 sense_intronic 100874372 15 16 41 26 35 59 36 27 45 ENSG00000230790 chr2 11740997 11745301 - AC012456.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230793 chr13 44594858 44596082 + SMARCE1P5 processed_pseudogene 2 0 1 1 0 0 0 1 1 ENSG00000230794 chr21 35713139 35732942 - AF015720.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230795 chr6 29926459 29929232 + HLA-K unprocessed_pseudogene 1 0 0 1 0 1 1 0 0 ENSG00000230796 chr7 57650381 57651119 - AC064862.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230797 chrX 21855987 21858727 + YY2 protein_coding The protein encoded by this gene is a transcription factor that includes several Kruppel-like zinc fingers in its C-terminal region. It possesses both activation and repression domains, and it can therefore have both positive and negative effects on the transcription of target genes. This gene has an intronless coding region, and it appears to have arisen by retrotransposition of the related YY1 transcription factor gene, which is located on chromosome 14. [provided by RefSeq, May 2010]. 404281 GO:0031519, GO:0005667, GO:0005634, GO:0000785, PcG protein complex, transcription regulator complex, nucleus, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0001228, GO:0000987, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 1 0 1 0 0 0 0 ENSG00000230798 chr1 63320884 63324441 - FOXD3-AS1 antisense 100996301 0 0 4 0 6 5 2 0 0 ENSG00000230799 chr2 201762737 201763573 + AC007279.1 processed_pseudogene 1 0 1 9 2 1 2 0 0 ENSG00000230801 chr20 31808503 31808749 - AL160175.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230803 chr2 132285795 132294377 - AC097532.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230804 chr9 40121962 40122540 + C2orf27AP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230805 chr14 101073869 101077910 - AL132709.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230806 chr1 121360156 121398806 - SRGAP2-AS1 antisense 100873165 0 0 0 2 2 1 7 0 0 ENSG00000230807 chr3 27486247 27486617 + AC099535.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230809 chr10 111498191 111498941 - RPS6P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230813 chr1 246527030 246528155 + AL356583.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230814 chrY 22528281 22536639 + USP9YP24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230815 chr9 94824272 94824773 + AL807757.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000230817 chr1 82903183 83166815 + LINC01362 lincRNA 103283057 0 0 0 2 0 0 0 0 0 ENSG00000230818 chr10 19747823 19748621 + MTND2P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230819 chrY 25018499 25019303 - ZNF736P5Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230820 chr7 126980967 126981778 + AC000362.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230821 chr22 22446686 22448336 + AC245291.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230823 chrX 63299247 63299673 - CBX1P1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000230825 chr7 7255154 7277779 + AC005532.1 processed_transcript 101927354 0 0 2 0 0 4 0 0 1 ENSG00000230826 chr9 123736437 123751941 + AL390774.2 antisense 1 3 9 6 3 7 0 3 0 ENSG00000230828 chr1 50114937 50115282 + AL583843.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230829 chr5 32221932 32222347 + AC025181.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230830 chr3 35650197 35651961 - ARPP21-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230831 chr7 36838972 36841373 + AC007349.2 antisense 0 0 0 0 0 0 0 0 2 ENSG00000230832 chr1 147082338 147083578 - AC241584.1 processed_pseudogene 0 0 1 1 0 2 0 0 0 ENSG00000230833 chr1 27739954 27740629 + RPEP3 processed_pseudogene 2 3 0 0 2 0 0 0 0 ENSG00000230834 chr11 1776930 1778388 - AC068580.2 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000230835 chr11 64881535 64881945 + AP001187.1 processed_pseudogene 0 0 0 0 0 2 3 0 2 ENSG00000230836 chr2 74940258 74942670 + LINC01293 lincRNA 0 0 0 4 0 0 0 0 0 ENSG00000230837 chr20 33752167 33752543 - RPL31P2 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000230838 chr2 215718043 215719424 + LINC01614 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230839 chr20 1804016 1817606 - AL121760.1 lincRNA 44 34 45 18 33 16 23 24 16 ENSG00000230840 chr2 51925692 51925833 - AC097463.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230841 chr1 228449163 228449621 - RPL23AP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230843 chr20 56295967 56299160 - AL139824.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230844 chrX 46545493 46548408 + ZNF674-AS1 lincRNA 148 146 137 176 93 178 216 144 129 ENSG00000230845 chr6 52873014 52879940 - GSTA10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230846 chr9 81928021 81931368 - AL158154.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230847 chr5 71074225 71093193 - OCLNP1 unprocessed_pseudogene 0 0 0 0 0 3 0 1 0 ENSG00000230848 chr9 128039135 128057362 - AL360268.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230849 chr1 173141100 173142350 - GOT2P2 processed_pseudogene 0 0 1 1 1 1 0 0 0 ENSG00000230851 chr11 3591277 3591615 - AP006294.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230852 chr6 84019204 84026100 + AL161621.1 lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000230853 chr7 80096600 80097215 - RPL10P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230854 chrY 25923388 25929826 + USP9YP20 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230859 chr21 40863994 40864473 + YRDCP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230860 chr20 45567990 45568807 - CCNB1IP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230863 chr1 75641178 75724049 - AL137803.1 transcribed_processed_pseudogene 0 3 0 0 0 0 0 0 0 ENSG00000230864 chr1 102763322 102853842 - AC099567.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230865 chr17 17456427 17457259 + TSEN15P1 processed_pseudogene 0 0 0 0 1 1 0 0 0 ENSG00000230866 chr22 31970823 31973475 + LINC02558 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230867 chr9 32727069 32727522 - AL157884.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230869 chr10 45678692 45700532 + AGAP10P unprocessed_pseudogene 30 32 10 30 31 33 17 36 15 ENSG00000230870 chr21 31627127 31628600 - FBXW11P1 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000230871 chr13 99173593 99174490 + RPS6P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230872 chr16 22382436 22407428 + MFSD13B unitary_pseudogene 105371130 2 1 1 1 1 6 4 0 0 ENSG00000230873 chr6 17102258 17131372 + STMND1 protein_coding 401236 GO:0043005, GO:0005737, neuron projection, cytoplasm, GO:0015631, tubulin binding, GO:0031175, GO:0031110, GO:0007019, neuron projection development, regulation of microtubule polymerization or depolymerization, microtubule depolymerization, 0 0 0 0 0 0 0 0 0 ENSG00000230876 chr2 32825359 32926693 + LINC00486 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230879 chr7 12922545 12922920 - RBMX2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230881 chr1 41535443 41535868 + AL445933.2 antisense 0 0 0 1 0 0 0 0 0 ENSG00000230882 chr7 76071469 76074963 - AC005077.4 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000230886 chr2 9018293 9018899 - HMGB1P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230889 chrX 64432401 64434145 + SHC1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230891 chr3 25858533 25873700 - LINC00692 processed_transcript 285326 0 0 0 0 0 0 0 0 0 ENSG00000230894 chr9 116568449 116586328 + AL133284.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230896 chr1 45694684 45697075 - AL604028.1 sense_intronic 0 2 0 0 7 2 3 8 4 ENSG00000230897 chr17 14705076 14705534 - RPS18P12 processed_pseudogene 163 57 209 267 162 186 155 71 216 ENSG00000230898 chr1 166147782 166165095 - AL596087.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000230899 chrX 149878836 149881070 - MAGEA8-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230902 chr13 75688556 75689197 - FAM204CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230904 chrY 18811338 18811829 - XKRYP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230908 chr20 23798141 23805663 + AL591074.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000230910 chr6 68628117 68635161 - AL391807.1 processed_transcript 0 1 0 0 1 3 0 0 0 ENSG00000230911 chr11 112029858 112030367 - PPIHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230912 chr22 38666508 38668750 - AL021707.4 antisense 2 0 0 1 0 2 0 0 0 ENSG00000230913 chr6 41666906 41667649 + NPM1P51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230914 chr7 2383698 2388652 + AC004840.1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230916 chrX 126471705 126472403 + MTCO1P53 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230918 chr2 162073256 162075169 + AC008063.1 antisense 100131604 4 1 2 15 2 5 17 0 7 ENSG00000230920 chr9 9799423 9803784 + AL513422.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230921 chr1 119368946 119370331 + HAO2-IT1 sense_intronic 100874270 0 0 0 0 0 0 0 0 0 ENSG00000230922 chr22 45000565 45003619 - AL079301.1 sense_intronic 101927551 0 0 0 0 0 0 0 0 0 ENSG00000230923 chr2 64185078 64205485 - LINC00309 lincRNA 150992 0 0 8 7 1 8 4 8 9 ENSG00000230926 chrX 51082818 51091228 + AC239367.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230927 chr7 92412550 92447813 - TMBIM7P transcribed_unitary_pseudogene 105375396 0 0 3 1 4 0 1 0 0 ENSG00000230928 chr10 98252023 98256575 + AL139241.1 antisense 1 0 0 2 0 1 0 3 0 ENSG00000230929 chr5 126628019 126628319 - AC099513.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000230931 chr13 18724415 18724904 - GXYLT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230932 chr1 106080801 106081379 - AL355306.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230934 chrX 71691932 71692179 + BX276092.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230935 chr20 14003508 14003699 + RPS3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230936 chr7 55342316 55344958 + AC073347.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230937 chr1 209428820 209432838 + MIR205HG processed_transcript 642587 0 0 0 0 0 0 0 0 0 ENSG00000230941 chr7 109322320 109326315 - AC002386.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230942 chr1 158266753 158267320 - HMGN1P5 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000230943 chr6 113616927 113650090 - LINC02541 lincRNA 101927686 0 0 6 0 1 2 2 3 3 ENSG00000230944 chr3 5255535 5256761 - AC026202.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230945 chr9 80030579 80034555 + LINC01507 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230946 chr1 100941017 100941995 - HNRNPA1P68 processed_pseudogene 1 0 0 3 2 1 0 1 5 ENSG00000230947 chr22 24598054 24599398 + AP000356.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000230948 chr8 108131100 108132114 - AP001331.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230950 chr2 117025077 117026118 + MTND2P21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230951 chr3 186772589 186773476 + GPS2P2 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000230952 chr2 11357515 11365636 - AC099344.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230953 chr1 52920422 52920596 + AC099677.1 processed_pseudogene 2 7 3 2 1 12 3 0 3 ENSG00000230955 chr1 37860697 37861580 + AL929472.2 antisense 25 36 22 68 51 75 40 32 45 ENSG00000230956 chrX 88096393 88097225 - AL024493.1 processed_pseudogene 1 0 0 0 0 0 0 1 0 ENSG00000230958 chr2 111865798 111866405 + AC093166.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230960 chr6 170254334 170262569 - AL109910.1 antisense 154449 0 0 0 0 0 0 0 0 0 ENSG00000230962 chr10 85449592 85491996 + LINC01520 lincRNA 101929684 0 0 0 0 0 0 0 0 0 ENSG00000230964 chr2 91578478 91578573 + AC233266.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230965 chr21 13905960 13906488 - SNX18P13 processed_pseudogene 0 0 4 0 0 12 0 1 13 ENSG00000230967 chr10 101322485 101323394 - AL133387.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230968 chr2 77672215 77673792 + AC084149.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230969 chr17 16988329 16990177 + LINC02090 lincRNA 105371562 0 0 0 0 0 0 0 0 0 ENSG00000230970 chr3 42702653 42706776 + HHATL-AS1 antisense 100874044 3 3 2 3 2 0 4 1 3 ENSG00000230971 chr17 15267461 15272290 - AC005703.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230972 chr21 23065491 23131206 + AP001116.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230973 chrX 131437055 131437670 - AL049734.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230975 chr2 80699388 80870190 - AC012355.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230977 chrY 24182477 24183071 + AC023274.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230978 chr21 34723807 34737181 - LINC00160 lincRNA 54064 0 0 0 1 0 0 0 0 0 ENSG00000230979 chr2 47690716 47691246 - AC079250.1 processed_pseudogene 1 2 5 5 1 4 1 1 13 ENSG00000230980 chr11 1792553 1792870 + RPL36AP39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230982 chr21 46653558 46654022 - DSTNP1 processed_pseudogene 18 14 17 14 25 34 4 10 15 ENSG00000230986 chrX 74133004 74133114 - DDX3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230987 chr1 189989570 189993097 - AL359976.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230988 chr14 102662240 102662708 - RPL23AP11 processed_pseudogene 2 2 0 4 0 0 1 0 0 ENSG00000230989 chr16 83807843 83819737 + HSBP1 protein_coding The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008]. 3281 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0042802, GO:0005515, GO:0003714, identical protein binding, protein binding, transcription corepressor activity, GO:1900034, GO:0070370, GO:0000122, regulation of cellular response to heat, cellular heat acclimation, negative regulation of transcription by RNA polymerase II, 596 494 625 184 417 298 275 371 305 ENSG00000230990 chr20 11234170 11301525 - AL049649.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230991 chr2 154965513 154968003 - AC092625.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000230992 chr2 132352722 132353318 + FAM201B processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230993 chr2 121658475 121658973 - RPL12P15 processed_pseudogene 1 0 0 0 3 0 1 0 0 ENSG00000230994 chr6 31377419 31378019 + FGFR3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000230997 chr14 89892128 89892443 + RAB42P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000230999 chr7 112372647 112373729 + MTND5P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231001 chrX 94776739 94777567 - CCNB1IP1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231004 chr22 17329034 17329232 + CECR9 TEC 0 0 0 0 0 0 0 0 0 ENSG00000231005 chr20 57328546 57328696 + RPL39P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231006 chr7 108510233 108510976 + RPL7P32 processed_pseudogene 4 4 5 18 35 45 22 11 29 ENSG00000231007 chr9 87011652 87013151 + CDC20P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231009 chr10 42694371 42714575 - CUBNP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231010 chr22 46055740 46058160 - AL121672.1 lincRNA 0 3 2 0 0 5 0 1 3 ENSG00000231011 chrX 22616744 22617143 - AC092832.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231013 chr2 119476448 119487346 + AC013275.1 antisense 107105282 0 0 0 0 0 0 0 0 0 ENSG00000231015 chr20 24679547 24680991 + AL049594.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231017 chr2 211298941 211299189 - AC013404.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231018 chr9 131782570 131782813 - EIF4A1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231019 chr13 88142867 88236082 + AL354896.1 lincRNA 105370306 0 0 0 1 0 0 0 0 0 ENSG00000231020 chr1 176305672 176306095 - AL591043.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231022 chr1 188694320 188695111 + RPS3AP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231023 chr6 133088080 133106578 + LINC00326 lincRNA 285735 0 0 0 0 0 0 0 0 0 ENSG00000231024 chr2 69700192 69713847 - AC092431.1 lincRNA 0 2 0 2 0 3 0 0 0 ENSG00000231026 chrY 23917241 23917723 - XKRYP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231028 chr6 135497801 135716055 + LINC00271 lincRNA 100131814 0 0 0 3 0 0 0 0 0 ENSG00000231029 chr1 167591392 167591846 + AL031733.1 processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000231031 chr2 15690782 15744339 + LINC01804 lincRNA 101926966 0 0 0 0 0 0 0 0 0 ENSG00000231032 chr2 235147016 235147500 - AC114814.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231034 chr20 34688688 34688978 + AL118520.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000231035 chr2 217760547 217761291 - RPL7L1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231039 chr10 5234358 5263408 + AL355303.1 lincRNA 0 0 5 0 0 0 0 0 0 ENSG00000231040 chr2 146837749 146850310 + LINC01911 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231043 chr2 58460292 58462032 - AC007238.1 processed_pseudogene 5 4 6 1 2 4 0 3 2 ENSG00000231046 chr6 111227747 111259034 - AL360227.1 antisense 0 1 1 0 0 3 0 0 0 ENSG00000231047 chr3 190624595 190625169 + GCNT1P3 processed_pseudogene 11 16 23 40 67 41 36 26 32 ENSG00000231049 chr11 5557096 5564327 + OR52B5P transcribed_unprocessed_pseudogene 1 0 1 3 1 0 0 0 0 ENSG00000231050 chr1 1891471 1892658 + AL109917.1 antisense 0 1 2 0 0 1 3 1 0 ENSG00000231051 chr4 9348893 9350485 + USP17L28 protein_coding 728400 0 0 0 0 0 0 0 0 0 ENSG00000231052 chr9 2541097 2541635 + AL353614.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231053 chrX 70361486 70362374 - AL357752.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231054 chr2 45168583 45169414 + AC093833.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231056 chr6 10474500 10478502 - LINC02522 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231057 chr1 211675762 211690103 + AC096637.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231058 chr21 23101223 23103074 + MSANTD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231060 chr10 80776165 80778088 - FARSBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231061 chr13 63667681 63738018 - LINC00395 antisense 100874157 0 0 0 0 0 0 0 0 0 ENSG00000231062 chr2 95051395 95053176 - AC103563.2 antisense 0 0 0 16 0 5 11 0 2 ENSG00000231063 chr2 210088226 210089064 + AC006994.1 processed_pseudogene 1 2 2 0 5 2 0 0 3 ENSG00000231064 chr1 155195004 155205495 + AC234582.1 antisense 169 189 182 215 289 196 214 233 159 ENSG00000231066 chrX 14834476 14835319 - NPM1P9 processed_pseudogene 2 0 0 1 1 0 0 0 1 ENSG00000231068 chr21 30718525 30718777 - KRTAP21-3 protein_coding 100288323 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000231069 chrX 36985523 36986093 - BX842568.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231070 chr11 4793778 4795284 - OR52Y1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231071 chr20 4735669 4736673 - AL133396.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231072 chr1 116713833 116714835 - GAPDHP64 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231073 chr1 150973123 150975534 + AL590133.1 antisense 3 5 3 3 9 7 3 2 3 ENSG00000231074 chr6 30287397 30327150 - HCG18 antisense 414777 0 0 0 0 0 1 0 0 0 ENSG00000231078 chr20 57105741 57107128 + AL157414.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231079 chr2 148866470 148888823 - AC105402.3 antisense 1 0 2 10 0 0 2 0 0 ENSG00000231080 chr1 66826942 66828558 + AL592161.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000231081 chr20 26008791 26010531 - AL078587.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231082 chr10 80649797 80653732 + AL731544.1 lincRNA 105378386 0 0 0 0 0 0 0 0 0 ENSG00000231083 chr2 8600892 8622942 - AC011747.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231084 chr1 185171335 185171710 - RPL22P24 processed_pseudogene 3 5 6 1 5 3 1 3 6 ENSG00000231086 chr22 19124879 19125646 + TSSK1A unitary_pseudogene 0 5 2 2 10 0 7 5 8 ENSG00000231087 chr7 76968197 76969250 - FDPSP7 processed_pseudogene 2 1 1 5 0 0 1 0 0 ENSG00000231090 chr1 55217645 55324691 + MIR4422HG lincRNA 109729135 0 0 0 0 0 4 0 0 0 ENSG00000231092 chr2 216259595 216266130 + AC012513.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231093 chrX 145630218 145632375 + AL391256.1 processed_pseudogene 0 0 0 0 4 0 0 0 0 ENSG00000231095 chr1 55222379 55223372 + GYG1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231096 chr17 19840126 19840515 + NDUFB4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231098 chr7 134284500 134286055 + AC008154.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231099 chr2 109667128 109668002 + BMS1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231100 chr1 159557368 159558200 + AL606752.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231102 chr6 41720396 41734032 + AL035588.1 antisense 9 3 20 8 3 18 5 5 5 ENSG00000231103 chr1 12838125 12841357 - PRAMEF30P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231104 chr10 118017487 118045810 + AC022395.1 antisense 26 21 16 8 7 21 12 16 12 ENSG00000231105 chr1 21293290 21299774 + AL031728.1 antisense 100506801 50 53 78 46 30 85 34 46 63 ENSG00000231106 chr21 36005338 36007838 + LINC01436 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231107 chr9 90300902 90433505 - LINC01508 lincRNA 101927873 0 0 0 0 0 0 0 0 0 ENSG00000231108 chr9 6734598 6735076 - PRELID3BP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231110 chrX 140216035 140216804 - FO393408.1 lincRNA 105373343 0 0 0 0 0 0 0 0 0 ENSG00000231112 chr6 107985811 107986031 - MTHFD2P3 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000231113 chr6 42940364 42948360 + AL035587.1 antisense 97 145 151 58 164 136 95 91 87 ENSG00000231114 chr7 137318592 137326953 + AC078842.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231119 chr20 47352561 47354633 + AL031666.1 antisense 101927377 0 2 0 0 0 0 0 1 0 ENSG00000231120 chr6 149977922 149978416 + BTF3P10 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000231122 chr10 45815428 45817324 - FAM25E transcribed_unprocessed_pseudogene 643479 0 0 0 0 0 0 0 0 0 ENSG00000231123 chr21 38238227 38238664 - SPATA20P1 processed_pseudogene 34 28 66 11 11 33 25 18 28 ENSG00000231124 chr2 201824548 201824832 + UBE2V1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231125 chr21 29058073 29060095 - AF129075.1 sense_intronic 7 0 5 7 4 20 3 0 5 ENSG00000231128 chr1 113812379 113829171 + AL137856.1 antisense 28 27 36 16 22 43 12 16 16 ENSG00000231130 chr6 29896654 29897786 + HLA-T unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231131 chr10 52450874 52755409 - LNCAROD lincRNA 101928687 0 0 0 0 0 0 1 0 0 ENSG00000231132 chr10 51244894 51245806 - AC022537.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231133 chr20 63095493 63102319 - HAR1B lincRNA 768097 1 1 0 4 2 0 1 1 0 ENSG00000231134 chr2 85186409 85187253 + TCF7L1-IT1 sense_intronic 100874334 0 0 0 0 0 0 0 0 0 ENSG00000231136 chr21 22153950 22154299 - AP000705.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231137 chr9 76286494 76288081 - RBM22P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231138 chr10 123776670 123777749 + AC009987.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231139 chr7 152590641 152590941 - AC104843.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231140 chr9 39395737 39397406 - BX005214.2 lincRNA 0 2 0 0 2 1 0 0 0 ENSG00000231141 chrY 25728490 25733388 + TTTY3 lincRNA There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. 114760 0 0 0 0 0 0 0 0 0 ENSG00000231143 chr6 94163920 94194658 + AL157378.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231144 chrX 107032248 107032820 + EEF1A1P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231147 chr2 130006200 130009123 + ARHGAP42P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231148 chr10 31913143 31913754 + HMGB1P7 processed_pseudogene 0 1 0 0 2 2 1 0 0 ENSG00000231149 chr9 124514938 124516056 - AL354979.1 lincRNA 0 0 1 1 0 0 0 0 0 ENSG00000231150 chr6 38923029 38953099 - AL034345.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000231152 chr10 69594041 69594932 - MTND2P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231153 chr7 95018407 95018554 + AC002429.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231154 chrX 103687284 103691772 + MORF4L2-AS1 antisense 7 17 8 21 9 23 11 12 12 ENSG00000231156 chr2 45013214 45013668 - AC093702.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231158 chr2 158065545 158066059 + PTP4A1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231159 chrY 21972313 22005349 + OFD1P8Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231160 chr4 38612701 38664883 - KLF3-AS1 processed_transcript 254 255 201 92 109 120 82 138 111 ENSG00000231162 chr6 28446973 28447807 + COX11P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231163 chr1 33868953 33885458 + CSMD2-AS1 antisense 402779 0 0 0 0 0 0 0 0 0 ENSG00000231164 chrX 136791064 136791780 + RPL7P56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231165 chr9 33695767 33696059 + TRBV26OR9-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231166 chr9 118763867 118764345 + TUBB4BP6 processed_pseudogene 107987035 0 0 0 0 0 0 0 0 0 ENSG00000231167 chr7 105582258 105583256 - YBX1P2 processed_pseudogene 0 0 1 2 0 1 0 1 1 ENSG00000231169 chr15 52505191 52505862 + EEF1B2P1 processed_pseudogene 1 0 0 1 0 0 0 0 0 ENSG00000231170 chr7 95596682 95613719 + AC002451.1 antisense 0 1 2 0 0 1 0 0 0 ENSG00000231171 chr4 177728757 177990750 + LINC01098 lincRNA 285501 0 0 0 0 0 0 0 0 0 ENSG00000231172 chr2 75524068 75542706 + AC007099.1 antisense 101927884 0 0 0 0 0 0 0 0 0 ENSG00000231173 chr2 741977 749856 + AC116609.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231175 chr1 190624890 190801658 + LINC01720 lincRNA 440704 0 0 0 0 0 0 0 0 0 ENSG00000231177 chr3 10284419 10285746 + LINC00852 antisense 84657 22 16 28 12 14 42 12 8 23 ENSG00000231178 chr6 159353922 159383339 - AL357832.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231181 chr1 9576427 9576985 + AL954705.1 processed_pseudogene 1 6 2 116 103 83 103 56 33 ENSG00000231183 chr7 76902491 76919191 + AC007003.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000231184 chr13 19382454 19383072 + CCNQP3 processed_pseudogene 1 0 0 0 1 1 1 0 0 ENSG00000231185 chr5 142325293 142672001 + SPRY4-AS1 antisense 101926941 0 0 0 0 0 0 0 0 0 ENSG00000231187 chr10 46582782 46598145 - AL356056.2 antisense 102724593 1 0 0 0 0 0 0 0 0 ENSG00000231188 chr10 100335563 100346390 - AL139819.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231189 chr2 223498773 223504611 + AC013448.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231192 chr3 98130721 98138548 + OR5H1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26341 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0005515, GO:0004984, GO:0004930, odorant binding, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000231193 chr9 32840598 32841762 - AL157884.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231194 chr13 98435405 98435840 - FARP1-AS1 antisense 0 8 0 12 24 16 13 15 9 ENSG00000231195 chr9 21398614 21399139 - IFNA11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231198 chr7 39833286 39833793 - AC004987.1 processed_pseudogene 0 0 0 7 3 6 1 0 5 ENSG00000231199 chr1 235538052 235539845 - MTND5P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231201 chr21 14971470 14992854 + AF127577.2 antisense 2 0 0 2 0 0 0 2 0 ENSG00000231202 chr7 38295763 38296233 - TRGVB TR_V_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000231203 chr2 183071040 183072486 - KRT8P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231204 chr2 21317660 21561313 + AC011752.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231205 chr19 20340269 20424969 - ZNF826P transcribed_unprocessed_pseudogene 0 0 2 9 0 1 0 5 5 ENSG00000231206 chrX 74473017 74473953 - HNRNPA1P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231207 chr1 27389468 27390145 + FO393419.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231208 chr20 63808076 63816521 + ZBTB46-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231210 chr7 116563594 116663829 - LINC01510 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231211 chrX 12395757 12396167 - RPL17P49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231212 chr9 62349941 62351536 - AL590399.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231213 chr3 146576555 146606216 - PLSCR5 protein_coding 389158 GO:0005886, plasma membrane, GO:0017128, phospholipid scramblase activity, GO:0017121, plasma membrane phospholipid scrambling, 0 0 0 0 0 0 0 0 0 ENSG00000231216 chrX 13310652 13319933 + GS1-600G8.3 antisense 100093698 0 0 0 0 0 0 0 0 0 ENSG00000231217 chrX 6667865 6721544 - AC097347.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231219 chr1 13273539 13275627 - PRAMEF32P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231221 chr2 108049200 108052755 - LINC01593 lincRNA 107178918 0 0 0 0 0 0 0 0 0 ENSG00000231222 chr13 80888348 80888867 + ARF4P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231226 chr6 30105240 30114724 + TRIM31-AS1 antisense 104533120 0 0 0 0 0 0 0 0 0 ENSG00000231227 chr9 124010530 124011114 + AC006450.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000231228 chr5 180982273 180982611 + AC091874.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231231 chr21 38323635 38333421 - LINC01423 lincRNA 0 0 0 3 0 0 0 0 2 ENSG00000231232 chr7 57822465 57822801 - AC023141.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231233 chr10 104351591 104353575 - CFAP58-DT antisense 228 299 375 134 101 269 229 222 224 ENSG00000231234 chr7 66423405 66423893 - SKP1P1 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 2 ENSG00000231235 chrX 46418450 46420079 - AL139811.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231236 chr21 27358885 27448579 - AP001605.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231237 chr1 158694539 158695509 - OR6K1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231238 chr13 18540497 18550697 + LINC00349 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231240 chr2 130036958 130038422 + KLF2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231241 chr20 37021743 37021984 - RPS3AP3 processed_pseudogene 0 0 0 0 0 7 0 0 0 ENSG00000231243 chr3 38823902 38825302 + AC116038.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231244 chr7 136713871 136715188 + PSMC1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231245 chr10 32511336 32511737 - C1DP1 processed_pseudogene 18 20 9 7 19 14 7 10 7 ENSG00000231246 chr1 112177234 112360528 - AL445426.1 lincRNA 105378909 0 0 0 0 0 0 0 0 0 ENSG00000231248 chr9 61615876 61627683 + FAM242D lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231249 chr3 4490891 4493163 - ITPR1-DT antisense 13 10 9 3 0 0 5 5 0 ENSG00000231251 chr1 30226523 30226615 + AL021921.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231252 chr1 60659631 60867998 - AC099792.1 lincRNA 101926964 0 0 0 0 0 0 0 0 0 ENSG00000231253 chr22 33108529 33116294 + LINC01640 lincRNA 105373006 0 0 0 0 0 0 0 0 0 ENSG00000231254 chr2 212832161 212832945 + PCED1CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231255 chr7 86775081 86776022 - AC005009.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000231256 chr17 43780435 43787612 + CFAP97D1 protein_coding 284067 GO:0005515, protein binding, GO:0007288, sperm axoneme assembly, 0 0 0 4 1 0 2 0 0 ENSG00000231258 chr17 20583758 20591180 - ZSWIM5P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231259 chr2 87031815 87052992 - AC125232.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231261 chr22 41709225 41709489 - HMGN2P10 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000231264 chr7 63937905 63938509 - ARAFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231265 chr20 50040716 50041504 - TRERNA1 lincRNA 1 7 2 0 1 0 0 2 0 ENSG00000231266 chr2 16227027 16228194 - AC010745.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231270 chrX 118938153 118939134 + AL772284.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231271 chr22 23949918 23954042 + AP000350.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231272 chr1 234261706 234274465 + AL122008.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000231274 chr19 55540656 55545543 - SBK3 protein_coding 100130827 GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, GO:0006468, protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000231276 chr6 39553811 39554943 + E2F4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231278 chr2 240079433 240080362 + OR9S24P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231280 chr3 42321005 42322695 + SALL4P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231290 chr20 58515379 58619888 + APCDD1L-DT processed_transcript 149773 1 2 0 0 2 0 0 0 0 ENSG00000231291 chr5 4512262 4516776 + AC106799.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231292 chr2 113406396 113406872 + IGKV1OR2-108 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000231293 chr9 107834509 107834829 - RPL36AP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231295 chr7 120746738 120752514 - AC004888.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231296 chr1 40262672 40262984 - AL050341.1 processed_pseudogene 2 1 1 0 4 0 1 3 0 ENSG00000231297 chr6 166099665 166113273 + AL627443.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231298 chr10 4650185 4678154 - MANCR lincRNA 100216001 0 0 0 0 0 0 0 0 0 ENSG00000231299 chr7 56360362 56360541 - SEPT14P24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231300 chr21 35599732 35600022 - EZH2P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000231301 chr6 29582508 29583025 + RPL13AP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231302 chr20 50620763 50621077 + RPL36P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231304 chr3 20174244 21145967 + SGO1-AS1 processed_transcript 100874028 6 3 23 20 10 24 16 11 24 ENSG00000231305 chr3 128861313 128871540 - AC112484.1 antisense 14 10 9 21 25 9 38 22 26 ENSG00000231307 chr20 38537758 38538458 + RPS3P2 processed_pseudogene 3 2 5 2 11 3 10 5 1 ENSG00000231310 chr3 177037405 177047923 + TBL1XR1-AS1 antisense 57 47 84 32 59 27 32 44 26 ENSG00000231311 chrY 18161366 18176484 + PRYP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231312 chr2 39436637 39665343 + AC007388.1 antisense 1 2 2 0 3 16 4 1 0 ENSG00000231313 chr12 120914400 120915123 + CLIC1P1 processed_pseudogene 913 755 1119 184 344 207 288 347 342 ENSG00000231316 chr6 154605616 154605954 - AL591419.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231317 chr7 55656768 55678490 - AC091812.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231322 chr7 78347142 78359458 + RPL13AP17 transcribed_processed_pseudogene 399670 0 0 0 0 0 0 0 0 0 ENSG00000231324 chr21 36632681 36637033 - AP000696.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231326 chr10 2169140 2189474 - AL441943.3 lincRNA 105376348 0 0 0 0 0 0 0 0 0 ENSG00000231327 chr2 70124036 70125317 - LINC01816 lincRNA 100133985 8 2 9 8 12 13 14 7 8 ENSG00000231328 chr7 23811144 23811660 - TPT1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231329 chr6 139144204 139239653 - AL031772.1 processed_transcript 938 1117 1309 464 670 764 584 619 664 ENSG00000231331 chr2 94953161 94953593 - AC103563.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231332 chr6 73369704 73387717 + OOEP-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231333 chr1 200863808 200864152 + RPL34P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231334 chr2 54747103 54748404 - AC104781.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231336 chr2 46166789 46167978 - AC017006.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000231340 chrX 53142832 53143913 - ACTG1P10 processed_pseudogene 1 0 0 0 0 6 3 3 0 ENSG00000231341 chrY 5207215 5208069 - VDAC1P6 processed_pseudogene 0 0 2 0 0 0 0 0 3 ENSG00000231344 chr1 27739091 27739439 + AL020997.1 processed_pseudogene 0 1 1 2 0 0 0 1 1 ENSG00000231345 chr10 50655967 50660472 + BEND3P1 transcribed_processed_pseudogene 6 4 3 1 0 2 2 0 5 ENSG00000231346 chr1 111599655 111608723 - LINC01160 lincRNA 23 13 30 43 28 7 25 16 18 ENSG00000231349 chr1 86404176 86404866 - AC119749.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231351 chr2 86930250 86930754 - AC111200.2 processed_pseudogene 2 5 1 3 1 4 0 2 9 ENSG00000231353 chr1 15988182 15988441 + AL355994.1 unprocessed_pseudogene 0 0 0 5 0 0 0 0 0 ENSG00000231355 chr21 33482499 33484258 - AP000302.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231356 chrX 66360766 66361776 - AL157698.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231357 chr7 2835621 2836022 + AC006028.1 processed_pseudogene 0 1 0 0 1 0 0 0 0 ENSG00000231358 chr13 18921889 18944284 - AL355516.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231359 chr7 6490793 6491098 - AC072052.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000231361 chr19 12373609 12373731 + RPS29P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231362 chr3 13052967 13053122 - AC069271.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231364 chr1 83445967 83462687 + LINC01712 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231365 chr1 119140396 119275973 + AL359915.2 antisense 101929147 3 0 12 23 6 20 27 4 18 ENSG00000231366 chr10 70794230 70794523 - RPS26P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231367 chr2 38406719 38515740 - AC011247.1 lincRNA 101929596 0 0 0 0 0 0 0 0 0 ENSG00000231368 chr6 148647707 148648597 - RPSAP40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231369 chr22 26886909 26887548 - Z97353.1 processed_pseudogene 0 1 0 1 3 0 1 2 1 ENSG00000231371 chrX 116043483 116044418 + AKR1B1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231373 chr9 77456295 77526697 + GNA14-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231375 chrY 24049878 24051487 - CDY17P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231376 chr9 15588355 15588615 + HMGN2P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231378 chr1 174849667 174850168 - NDUFAF4P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231381 chr9 6668999 6670008 - RNF2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231382 chr3 36616006 36637457 - NBPF21P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231383 chr3 192238037 192283097 + FGF12-AS1 antisense 100873986 0 0 0 0 0 0 0 0 0 ENSG00000231384 chr3 172680714 172681224 + AC007919.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231386 chr2 70810798 70811474 - AC007395.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000231388 chrX 26496936 26505603 + AC079178.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231389 chr6 33064569 33080775 - HLA-DPA1 protein_coding HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]. 3113 GO:0071556, GO:0043231, GO:0042613, GO:0032588, GO:0030669, GO:0030666, GO:0030658, GO:0012507, GO:0010008, GO:0009986, GO:0005887, GO:0005886, GO:0005765, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, intracellular membrane-bounded organelle, MHC class II protein complex, trans-Golgi network membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, ER to Golgi transport vesicle membrane, endosome membrane, cell surface, integral component of plasma membrane, plasma membrane, lysosomal membrane, Golgi membrane, GO:0042605, GO:0032395, peptide antigen binding, MHC class II receptor activity, GO:0071346, GO:0060333, GO:0050870, GO:0050852, GO:0042102, GO:0032729, GO:0019886, GO:0019886, GO:0006955, GO:0002250, cellular response to interferon-gamma, interferon-gamma-mediated signaling pathway, positive regulation of T cell activation, T cell receptor signaling pathway, positive regulation of T cell proliferation, positive regulation of interferon-gamma production, antigen processing and presentation of exogenous peptide antigen via MHC class II, antigen processing and presentation of exogenous peptide antigen via MHC class II, immune response, adaptive immune response, 0 8 0 29 36 0 38 45 0 ENSG00000231390 chr9 40293082 40293955 + SNX18P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231392 chr22 22774529 22774691 + AC244157.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231393 chr9 35642514 35643517 + AL357874.2 antisense 0 0 0 0 0 8 0 0 0 ENSG00000231394 chr7 55593777 55595006 + AC099681.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231395 chr3 23878981 23879498 - ARL4AP4 processed_pseudogene 2 2 3 1 4 0 3 2 0 ENSG00000231396 chr4 9210657 9212608 + USP17L10 protein_coding 100287144 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000231397 chr7 149321865 149322092 - AC004941.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231398 chr10 97275012 97278097 + AL359385.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000231399 chr10 53038285 53038544 + SNRPEP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231401 chr3 8364707 8366392 - AC023481.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231402 chr6 31287510 31288964 - WASF5P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231403 chr2 11388023 11390367 - AC099344.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231404 chr13 41287741 41288320 - RAC1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231405 chr22 27143478 27159878 + AL008638.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231407 chr1 170460453 170532647 - AL354732.1 antisense 0 0 0 3 0 0 0 2 0 ENSG00000231409 chr15 34943080 34943394 + AC018868.1 processed_pseudogene 2 0 0 0 1 0 4 1 0 ENSG00000231411 chrY 10171590 10172725 - DUX4L31 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231412 chr19 43329295 43331430 - AC005392.2 lincRNA 42 110 206 14 86 147 26 126 136 ENSG00000231413 chr1 48078787 48082196 - AL356289.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231414 chr2 70253855 70254010 - AC016700.2 processed_pseudogene 1 0 1 1 1 4 1 0 0 ENSG00000231416 chr1 153995632 153995960 + AL358472.1 processed_pseudogene 0 0 2 2 10 6 2 6 0 ENSG00000231417 chr13 24742677 24746184 + IRX1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231418 chr7 31414645 31421286 - AC005090.1 lincRNA 105375224 0 0 0 0 0 0 0 0 0 ENSG00000231419 chr7 159006522 159030195 + LINC00689 processed_transcript 154822 1 0 1 2 0 4 0 0 0 ENSG00000231420 chr2 150234892 150257007 - LINC01817 lincRNA 105373683 0 0 0 0 0 0 0 0 0 ENSG00000231421 chr17 30573471 30577000 - AC011840.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000231422 chr10 25113058 25161236 + LINC01516 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231423 chrY 23956569 23960218 + RAB9AP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231424 chr1 171247580 171251794 - AL445673.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231426 chr6 139677639 139860476 + FILNC1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000231427 chr7 54330697 54349849 + LINC01445 lincRNA 102723605 0 0 0 0 0 0 0 0 0 ENSG00000231428 chr13 110053285 110054952 + LINC00396 lincRNA 104355146 0 0 0 0 0 0 0 0 0 ENSG00000231431 chr2 131279290 131309068 + FAR2P4 transcribed_unprocessed_pseudogene 440910 0 0 0 0 0 0 0 0 0 ENSG00000231434 chr1 158523672 158525838 + AL365440.1 processed_pseudogene 5 0 3 5 7 7 3 8 5 ENSG00000231436 chrY 9610571 9621276 - RBMY3AP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231437 chr1 111989770 111998842 + LINC01750 lincRNA 643355 0 0 0 0 0 0 0 0 0 ENSG00000231439 chr16 22910 25123 + WASIR2 lincRNA 100132169 3 3 10 4 6 6 14 6 12 ENSG00000231440 chr1 240588522 240590748 - AL358176.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000231441 chr6 56844002 56864078 + AL512422.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231442 chr4 63350114 63351472 + LARP1BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231443 chr3 195937243 195938739 + AC124944.2 processed_pseudogene 0 0 0 4 1 0 4 2 1 ENSG00000231445 chr2 162077357 162077651 - TIMM8AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231447 chrX 152746817 152747762 + AC244102.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231449 chr3 37196204 37196666 + AC097359.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231453 chr2 174326027 174330643 + LINC01305 lincRNA 285084 2 0 2 0 0 5 3 0 0 ENSG00000231454 chr9 61665579 61666386 + AL935212.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231458 chr17 16683438 16684227 + RNASEH1P2 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000231460 chr9 23829670 23849914 + AL365204.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000231461 chr6 33091753 33097295 - HLA-DPA2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231464 chr3 195996738 195998233 + AC024937.2 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000231465 chr9 122471358 122475817 + AL359636.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231466 chr22 25349543 25350322 - AL022324.2 processed_pseudogene 3 0 4 3 4 3 4 0 5 ENSG00000231467 chr22 37080068 37082847 + AL022314.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231468 chr1 28526318 28527227 - PRDX3P2 processed_pseudogene 0 5 0 1 1 0 0 0 0 ENSG00000231470 chr20 36076018 36076601 - HMGB3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231471 chr10 72636497 72636765 - HMGN2P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231473 chr13 48296513 48303661 - RB1-DT lincRNA 100862704 1 0 1 0 1 3 3 1 9 ENSG00000231475 chr14 106349283 106349792 - IGHV4-31 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000231476 chr7 1620654 1621405 + AC074389.2 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000231477 chr17 19457080 19458399 + AC004448.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231478 chrX 86481532 86481813 + FCF1P9 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231480 chr21 38502445 38502621 + SNRPGP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231482 chr2 1366234 1580747 - AC105450.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231483 chr10 5608475 5610793 - AL365356.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231484 chr7 57828331 57837046 + AC023141.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231485 chr1 65066627 65067737 - AL357078.1 lincRNA 2 2 1 0 6 0 8 3 0 ENSG00000231487 chr11 1662584 1663343 - AP006285.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231489 chrX 48423342 48423468 - AL606490.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231490 chr7 51259429 51260167 - RPL7L1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231491 chr9 12287320 12288238 + JKAMPP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231492 chr11 64420391 64432670 + AP003774.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231494 chr2 231559903 231560364 + AC104634.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000231495 chr22 27707580 27709931 + AL121885.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231496 chr10 10960151 10970816 + AL136369.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231500 chr6 33272010 33276510 + RPS18 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6222 GO:0070062, GO:0022627, GO:0022627, GO:0016020, GO:0015935, GO:0015935, GO:0014069, GO:0014069, GO:0005925, GO:0005840, GO:0005829, GO:0005829, GO:0005829, GO:0005654, GO:0005634, GO:0005634, extracellular exosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, membrane, small ribosomal subunit, small ribosomal subunit, postsynaptic density, postsynaptic density, focal adhesion, ribosome, cytosol, cytosol, cytosol, nucleoplasm, nucleus, nucleus, GO:0019843, GO:0005515, GO:0003735, GO:0003723, rRNA binding, protein binding, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 0 0 0 0 0 0 0 0 0 ENSG00000231501 chrX 126472728 126472884 + MTND4LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231503 chr12 9239986 9240331 - PTMAP4 processed_pseudogene 8 10 13 26 13 17 13 8 11 ENSG00000231504 chr7 56502284 56503044 - NMD3P2 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000231505 chr2 106521903 106538079 - AC108868.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231507 chr1 203287152 203288801 + LINC01353 lincRNA 67 94 101 80 64 117 70 54 76 ENSG00000231508 chr10 97393197 97393547 - RPL34P20 processed_pseudogene 0 2 0 0 3 0 6 1 0 ENSG00000231509 chr9 5584490 5588994 + AL162253.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000231510 chr1 5086459 5090899 - AL691497.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231512 chr1 243029512 243052252 - SEPT14P21 transcribed_unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000231513 chrX 136097835 136098348 - E2F6P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231514 chrY 26626520 26627159 - CCNQP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231515 chr7 157739010 157740456 - AC006003.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000231516 chr3 166811009 166811567 + CBX1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231519 chr7 30069658 30075115 - AC007285.2 antisense 0 0 0 4 0 0 0 2 0 ENSG00000231521 chr9 97634515 97636051 - AL162385.2 antisense 105376171 0 2 1 2 0 1 2 1 0 ENSG00000231523 chr7 63117501 63154934 - SEPT14P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231525 chr7 20588990 20590085 + AC002486.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231527 chr9 61972240 61976380 + CR769775.1 processed_transcript 105379444 1 0 0 0 0 0 4 0 0 ENSG00000231528 chr9 113113073 113119928 + FAM225A lincRNA 286333 1 2 0 0 0 0 0 2 0 ENSG00000231529 chr1 220485104 220487043 - AC096644.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231530 chr13 42043727 42044247 - AL157932.1 antisense 0 0 0 0 0 4 0 0 0 ENSG00000231531 chr7 143312684 143313061 - HINT1P1 processed_pseudogene 0 0 0 0 1 0 1 0 0 ENSG00000231532 chr2 4628222 4656215 - LINC01249 lincRNA 727982 0 0 0 0 0 0 0 0 0 ENSG00000231533 chr6 79420297 79421305 + AL078601.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231534 chr2 229942728 229945137 + FBXO36-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000231535 chrY 3002912 3102272 + LINC00278 lincRNA 100873962 13 11 16 18 14 33 33 21 53 ENSG00000231536 chr2 110610916 110612404 + AC226101.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231537 chr7 57167880 57168651 + MTCO3P10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231538 chr2 114828432 114833548 - DPP10-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231539 chr7 42829672 42844438 - AC010132.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231540 chrY 23808821 23809059 - ELOCP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231541 chr2 179001756 179002760 + RPS6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231542 chrX 30834623 30835300 + TAB3-AS1 antisense 13 15 21 8 12 13 14 8 15 ENSG00000231544 chr18 57838476 57838966 + RSL24D1P11 processed_pseudogene 0 6 0 0 0 0 0 0 1 ENSG00000231546 chr2 236407846 236409077 - RPL3P5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231547 chr1 202999738 203000352 + AC096632.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231548 chr11 4146112 4151104 - OR55B1P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231549 chrX 74173890 74174066 + ATP5MDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231550 chr2 169767185 169768799 - PTCHD3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231551 chr1 148402516 148432545 + AC245100.4 transcribed_unprocessed_pseudogene 49 54 68 50 45 51 52 46 67 ENSG00000231552 chr3 32620903 32621902 - IGBP1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231553 chr10 21394033 21394592 + RNMTL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231556 chr7 65335174 65335668 - RSL24D1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231557 chr2 198882573 199071791 - AC020718.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231559 chr6 108817680 108817926 + Z95118.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231560 chr12 9948137 9953336 - CLEC12A-AS1 lincRNA 400002 0 1 0 0 0 0 0 0 0 ENSG00000231561 chr19 42654200 42669076 + CEACAMP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231562 chr9 106978776 106979554 - AL512593.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231563 chr1 228407381 228409694 + AL670729.1 antisense 4 0 0 0 1 2 0 1 5 ENSG00000231564 chr1 179201705 179201926 + EIF4A1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231565 chr22 15611759 15613096 - NEK2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231566 chrX 45848074 45851490 - LINC02595 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231567 chr2 140217651 140220368 - MTND2P19 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231568 chrX 48228833 48228959 - AC245047.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231569 chr10 87408044 87408258 - AL355334.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231570 chr2 56750300 56750563 + PPIAP63 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231574 chr3 177816865 177899224 + LINC02015 lincRNA 102724550 0 0 0 0 0 0 0 0 0 ENSG00000231575 chr10 94109116 94121107 + AL139118.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000231576 chr22 36172934 36173948 + MTCO2P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231579 chr5 143332605 143333239 + RPL7P21 processed_pseudogene 3 2 0 3 0 7 3 4 20 ENSG00000231582 chr1 235541412 235541706 - MTND4LP21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231583 chr2 110500100 110500235 + AC108938.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231584 chr2 96010551 96023380 + FAHD2CP transcribed_unprocessed_pseudogene 3 4 4 11 2 14 19 1 19 ENSG00000231585 chr5 132011448 132013199 + AC034228.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231586 chr1 161617992 161619585 - RPS23P9 unprocessed_pseudogene 2 4 2 0 5 10 7 0 1 ENSG00000231587 chr9 131490486 131490571 + SNORD62B snoRNA 692093 0 4 6 4 3 6 3 3 5 ENSG00000231588 chr10 50629532 50631075 - SHQ1P1 processed_pseudogene 15 6 19 11 6 0 0 6 6 ENSG00000231589 chr16 62596372 62598449 + AC009110.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231590 chrX 102425343 102428080 - AC235565.1 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231593 chrX 52561769 52562301 - BX510359.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231595 chr17 14210488 14217922 + AC005224.1 lincRNA 0 1 0 1 0 0 0 0 3 ENSG00000231597 chr2 216854389 216855132 - AC007557.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231600 chrX 153249115 153249691 - AC236972.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231601 chr10 743992 744958 + AL157709.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231603 chrX 48412303 48415285 + AL606490.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231604 chr20 56730397 56731460 + AL133232.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231605 chr1 167175917 167195792 - LINC01363 antisense 101928484 0 2 0 0 0 0 0 0 0 ENSG00000231606 chr1 14221891 14223118 - AL357873.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231607 chr13 49982552 50125720 - DLEU2 antisense This locus represents a microRNA host gene and also produces long alternatively spliced non-coding RNAs. This genome region was observed to be deleted or epigenetically suppressed in leukemia, and was implicated as a negative regulator of cell proliferation. However, an alternative transcript produced at this locus was also found to promote progression through the cell cycle via angiotensin I converting enzyme 2 and cyclin D1. [provided by RefSeq, Dec 2017]. 8847 314 367 360 287 457 431 336 405 309 ENSG00000231609 chr2 62957326 63048640 - AC007098.1 antisense 100132215 5 7 10 6 4 8 15 5 3 ENSG00000231610 chr2 6495877 6496798 - PIK3CDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231612 chr1 245673732 245676478 - AC104462.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231613 chr1 89788914 89790492 + AC099568.1 sense_intronic 1 0 1 0 1 0 5 2 0 ENSG00000231615 chr1 173362397 173363733 - AL645568.2 processed_pseudogene 3 3 1 3 4 4 1 4 1 ENSG00000231616 chr9 83831586 83868532 + AL354733.2 antisense 130 123 158 110 159 173 137 127 141 ENSG00000231619 chrX 8856665 8857059 - AC003685.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231620 chr21 19301613 19303739 + AP000855.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231621 chr2 197197991 197199273 + AC013264.1 antisense 101927596 7 2 4 8 11 23 5 3 0 ENSG00000231622 chr1 65154480 65154650 + RPS29P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231625 chr17 19615789 19633825 + SLC47A1P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231626 chr2 104580821 104581890 - AC013402.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231628 chr6 105279016 105281755 + AL133406.2 antisense 0 0 4 11 5 1 5 1 1 ENSG00000231630 chr1 2814432 2814998 - AL592464.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231633 chr13 102742990 102745224 + LINC00283 antisense 1 0 0 0 0 0 0 0 0 ENSG00000231635 chr2 98206151 98207724 + ATP5F1BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231636 chr2 27049683 27050264 - AGBL5-AS1 antisense 100874031 4 0 0 0 3 0 0 1 0 ENSG00000231637 chr4 9353638 9355230 + USP17L29 protein_coding 728405 0 0 0 0 0 0 0 0 0 ENSG00000231638 chr7 43508728 43522542 - LUARIS antisense 100506895 0 0 0 0 0 0 0 0 0 ENSG00000231643 chrX 101191115 101191409 - Z70280.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231645 chr17 20512560 20517479 - KRT17P6 transcribed_unprocessed_pseudogene 0 0 2 0 0 0 0 0 4 ENSG00000231646 chr2 185783691 185800151 - FSIP2-AS1 antisense 107985781 0 0 3 0 0 0 0 0 0 ENSG00000231648 chr1 209367662 209379690 + LINC01698 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231649 chr9 82057647 82063682 - SPATA31B1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231650 chr13 22850101 22850561 + RFESDP1 processed_pseudogene 0 0 0 1 0 0 0 0 1 ENSG00000231651 chrX 70452958 70455994 - DLG3-AS1 antisense 100873930 0 0 0 0 0 3 0 0 2 ENSG00000231652 chr6 73693903 73696131 - AL590428.1 antisense 101928489 0 1 0 0 1 0 1 0 2 ENSG00000231653 chr2 206640073 206641282 + AC010731.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231654 chr6 166903698 166904835 + RPS6KA2-AS1 antisense 11 5 2 5 3 4 8 7 5 ENSG00000231655 chr2 26140263 26141264 - AC011742.2 processed_pseudogene 4 1 2 3 7 3 6 5 7 ENSG00000231660 chr3 308714 309322 - RPS8P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231662 chr6 19290319 19321021 - AL357052.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231663 chr1 234372807 234373593 - AL355472.1 antisense 101927765 12 2 13 14 10 14 17 18 12 ENSG00000231665 chr13 49210422 49212294 - OGFOD1P1 processed_pseudogene 1 0 3 0 7 5 2 0 0 ENSG00000231666 chr1 158132040 158146929 - LINC01704 lincRNA 646268 0 0 0 0 0 0 0 0 0 ENSG00000231667 chr13 67902208 67903221 + OR7E111P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231668 chr3 38051759 38052395 + PPP2R2DP1 processed_pseudogene 1 0 0 0 0 1 0 0 0 ENSG00000231671 chr1 101323337 101390303 + LINC01307 lincRNA 104355286 0 0 0 0 0 0 0 0 0 ENSG00000231672 chr2 217284019 217756593 - DIRC3 lincRNA 2 0 0 5 0 0 0 0 2 ENSG00000231674 chr13 90890954 90926597 - LINC00410 lincRNA 144776 0 0 0 2 0 0 0 0 0 ENSG00000231675 chr2 158703287 158703460 + AC005042.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231678 chr9 108701370 108703092 - AL358779.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231680 chr11 64394342 64395831 - AP003774.3 lincRNA 0 0 1 0 0 0 0 2 5 ENSG00000231681 chr7 50202001 50262994 - AC020743.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231682 chr2 234444590 234454595 - LINC01891 lincRNA 105373934 1 0 1 0 0 3 0 0 0 ENSG00000231683 chr6 53561289 53617171 - AL033397.1 lincRNA 101927136 0 0 0 0 0 4 0 0 0 ENSG00000231684 chr1 182336001 182336334 + EIF1P3 processed_pseudogene 4 1 5 1 2 3 2 4 2 ENSG00000231686 chrX 146619597 146620584 - Z97180.1 processed_pseudogene 17 17 14 26 15 11 4 12 14 ENSG00000231688 chr3 168858659 168859130 - RPL21P43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231689 chr2 187712816 188384313 - LINC01090 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231690 chr6 169790321 169802873 + LINC00574 lincRNA 80069 0 0 0 0 0 0 0 0 0 ENSG00000231691 chr1 204277005 204277948 + AL592114.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231694 chrX 149760779 149760874 + AC244098.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231697 chr9 100175178 100176054 + NANOGP5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231698 chr11 131253422 131350917 + AP002856.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231699 chr2 197533803 197533965 + AC020550.1 processed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000231700 chr1 157709086 157709643 + AL356276.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231701 chr9 65828120 65831696 + BMS1P13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231702 chr1 1008076 1008229 - AL645608.3 processed_pseudogene 0 0 0 8 0 10 1 2 0 ENSG00000231703 chr20 53397661 53412910 - AL354993.1 antisense 0 0 1 0 0 0 1 0 0 ENSG00000231704 chr7 6081103 6093085 + AC004895.1 lincRNA 0 0 2 2 2 3 8 2 2 ENSG00000231705 chr10 132419083 132420953 + AL451069.2 lincRNA 2 0 0 2 4 0 0 2 0 ENSG00000231706 chrX 69485343 69485652 - CYCSP43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231707 chr4 39973444 39974338 + PABPC1P1 processed_pseudogene 0 1 2 1 0 1 2 0 0 ENSG00000231711 chr22 46039907 46044853 - LINC00899 processed_transcript 30 30 11 22 30 16 9 18 18 ENSG00000231712 chr2 30209995 30210307 + AC104698.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231713 chr21 39727755 39730680 + AF064860.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231714 chr1 194350943 194352426 + AL513348.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231715 chr20 50479767 50479991 + COX6CP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231716 chrY 25994684 25995697 - CDY23P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231718 chr1 199148598 199393307 + AC099673.1 lincRNA 400800 0 0 0 1 0 0 0 0 0 ENSG00000231720 chr6 167237508 167240480 - AL353747.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231721 chr7 130938963 131110176 - LINC-PINT processed_transcript 378805 322 398 371 690 894 928 794 651 833 ENSG00000231722 chr2 81418723 81419302 - AC012075.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231723 chr2 103623630 103623830 + AC018880.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231724 chr3 186807692 186818121 + AC112907.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231725 chrX 48636165 48637135 + VN1R110P processed_pseudogene 0 0 0 0 0 0 0 0 6 ENSG00000231726 chr11 73580253 73580517 + HMGN2P38 processed_pseudogene 0 0 1 0 2 0 0 0 0 ENSG00000231728 chrX 103917411 103919548 - TMSB15B-AS1 antisense 1 0 0 3 0 0 6 0 9 ENSG00000231729 chrX 63670196 63671502 - ARHGEF9-IT1 sense_intronic 100874355 1 0 1 1 0 0 0 0 0 ENSG00000231731 chr2 127455394 127514623 + AC010976.1 antisense 50 88 82 65 80 88 63 81 63 ENSG00000231735 chr2 173297629 173298512 + AC092573.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231738 chr12 85014311 85036277 - TSPAN19 protein_coding 144448 GO:0005887, integral component of plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000231739 chr2 187415552 187415818 + GAPDHP59 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231740 chr1 58838448 58851254 - AL136985.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231741 chr9 85934588 85936599 + AL353743.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231742 chr20 50172550 50176671 + LINC01273 lincRNA 101927541 0 0 0 0 0 0 0 0 0 ENSG00000231743 chr10 2936021 2936441 + AC026396.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231744 chr9 124598707 124599580 - AL669818.1 processed_pseudogene 1 1 0 0 4 2 0 2 0 ENSG00000231747 chr2 112621809 112622167 - AC079922.1 processed_pseudogene 0 1 0 1 0 0 0 0 0 ENSG00000231748 chr10 69265342 69268148 - AL596223.2 antisense 0 0 1 0 0 0 0 0 5 ENSG00000231749 chr17 68944531 69042784 + ABCA9-AS1 antisense 104355297 2 2 1 0 0 0 0 0 0 ENSG00000231750 chrX 43407665 43408559 - NANOGP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231752 chr1 121519112 121575702 + EMBP1 transcribed_unprocessed_pseudogene 647121 8 12 8 11 8 24 15 8 5 ENSG00000231754 chr6 21521678 21523783 - AL512380.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231755 chr21 17835016 17885608 - CHODL-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231756 chr9 16473188 16476237 + AL449983.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231758 chr2 143640756 143656179 - AC092652.1 antisense 5 15 15 7 5 7 7 11 8 ENSG00000231760 chr6 149796151 149799150 - AL355312.2 antisense 64 82 75 43 69 51 44 38 70 ENSG00000231762 chr6 76660486 76662770 + AL590426.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231763 chr7 88610241 88610669 - PQLC1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231764 chr7 96955141 97014065 - DLX6-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231765 chrX 57229034 57229415 + PPP1R11P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231766 chr2 143100930 143101355 - MTCO2P5 processed_pseudogene 6 7 4 4 5 8 6 10 5 ENSG00000231767 chr1 192716132 192716653 + AL136454.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000231768 chr1 234527891 234531779 - LINC01354 lincRNA 100506795 0 0 1 0 1 2 0 1 2 ENSG00000231769 chr6 46097093 46129706 - AL035701.1 antisense 0 0 0 0 1 5 1 3 0 ENSG00000231770 chr3 194584011 194590260 + TMEM44-AS1 antisense 40 33 21 22 25 22 19 13 21 ENSG00000231772 chrX 42252459 42699385 + Z93403.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231776 chr6 84421028 84556152 - LINC01611 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231777 chr2 131372294 131373650 - MTND4P21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231780 chr3 17333126 17333431 + AC090960.1 processed_pseudogene 0 0 0 1 0 0 1 0 0 ENSG00000231781 chr2 81983272 82005700 - AC079896.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231782 chr4 82613113 82621437 - LINC00575 lincRNA 439934 0 0 0 0 0 0 0 0 0 ENSG00000231784 chr17 752660 755336 + DBIL5P transcribed_unitary_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000231787 chrX 103904322 103904754 - AC234782.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231788 chr12 31597114 31597409 - RPL31P50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231789 chr1 9672426 9687555 - PIK3CD-AS2 antisense 101929074 2 4 3 3 9 5 16 8 17 ENSG00000231791 chr1 184329071 184332826 + AL445228.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231793 chr11 67612651 67616257 - DOC2GP transcribed_unitary_pseudogene 1 1 0 14 2 5 19 2 12 ENSG00000231794 chr7 135198401 135209837 + AC009542.1 antisense 57 40 56 26 58 35 30 32 39 ENSG00000231795 chr20 34450930 34454552 + ITCH-IT1 sense_intronic 4 0 1 0 6 0 0 1 7 ENSG00000231799 chr9 89449558 89450754 + PA2G4P6 processed_pseudogene 16 23 47 3 21 7 22 11 5 ENSG00000231801 chr22 44651835 44652379 + ANP32BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231802 chr2 219684030 219684795 - AC009502.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231804 chr9 88484852 88485325 - AL353748.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231806 chr9 94555054 94603990 + PCAT7 antisense 8 13 16 5 12 15 6 12 8 ENSG00000231808 chr9 112713 113754 - LINC01388 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231809 chrX 65772741 65773632 - NANOGP9 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000231810 chr9 108821697 108822004 + RPL36AP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231811 chr6 4345743 4347037 - AL159166.1 lincRNA 101927888 0 0 0 0 0 0 0 0 0 ENSG00000231812 chr7 97885868 97886074 + SNRPCP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231814 chr1 217892900 217920804 + LINC00210 lincRNA 100885798 0 0 0 0 0 0 0 0 0 ENSG00000231815 chr2 59434552 59442261 + AC007179.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231817 chr13 46455132 46515958 - LINC01198 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231821 chr2 4514204 4515056 - NPM1P48 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000231822 chr2 99102018 99102752 + AC019097.1 processed_pseudogene 19 5 4 18 1 6 3 14 4 ENSG00000231824 chr18 5145285 5197503 - AKAIN1 protein_coding 642597 GO:0051018, GO:0005515, protein kinase A binding, protein binding, GO:0008104, protein localization, 0 0 0 0 0 0 0 0 0 ENSG00000231826 chr2 43027853 43039547 - LINC01819 lincRNA 102723854 18 13 30 39 25 14 53 11 13 ENSG00000231827 chr1 153793947 153802091 + AL513523.2 transcribed_unprocessed_pseudogene 343052 1 0 0 0 0 0 0 0 0 ENSG00000231829 chr10 95141925 95168425 - AL157834.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231830 chrX 154333960 154335037 - AC245140.1 antisense 10 13 4 19 12 6 13 9 9 ENSG00000231831 chrX 57392646 57395409 - MTHFD1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231837 chr1 154078866 154079963 + RPS7P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231838 chr9 62028426 62076349 + CR769775.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231839 chr7 145583197 145584817 + DPY19L4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231840 chr7 143255264 143287380 - AC073342.1 antisense 1 0 0 4 0 0 3 0 0 ENSG00000231841 chr4 152927446 152928207 + FAM192BP processed_pseudogene 4 8 9 11 12 14 10 3 11 ENSG00000231845 chr3 134170487 134171085 + HMGB3P14 processed_pseudogene 2 0 2 0 0 2 0 2 0 ENSG00000231846 chrX 22428132 22494713 + AC092832.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231848 chr2 44996413 44996873 + AC012354.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231849 chr1 36241898 36242156 - UBE2V2P4 processed_pseudogene 0 0 0 0 1 3 1 0 4 ENSG00000231851 chr2 105097052 105102944 - UTAT33 antisense 101927492 5 2 9 17 6 15 11 4 9 ENSG00000231852 chr6 32038265 32041670 + CYP21A2 protein_coding This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 1589 GO:0005789, endoplasmic reticulum membrane, GO:0020037, GO:0020037, GO:0008395, GO:0008395, GO:0005506, GO:0005496, GO:0004509, GO:0004509, GO:0004509, heme binding, heme binding, steroid hydroxylase activity, steroid hydroxylase activity, iron ion binding, steroid binding, steroid 21-monooxygenase activity, steroid 21-monooxygenase activity, steroid 21-monooxygenase activity, GO:0055114, GO:0016125, GO:0008202, GO:0006705, GO:0006704, GO:0006704, GO:0006694, GO:0006694, oxidation-reduction process, sterol metabolic process, steroid metabolic process, mineralocorticoid biosynthetic process, glucocorticoid biosynthetic process, glucocorticoid biosynthetic process, steroid biosynthetic process, steroid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000231855 chr10 31628540 31628599 - AL161935.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231856 chr13 51803838 51813832 + AL162377.1 antisense 92 102 95 86 121 159 99 77 93 ENSG00000231857 chrX 65327988 65331233 - MORF4L1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231858 chr2 191021526 191032314 + AC067945.3 processed_transcript 105373805 17 7 32 48 14 32 30 5 22 ENSG00000231859 chr7 97906429 97906822 + AC079781.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231861 chr3 98497604 98498663 + OR5K2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 402135 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0005515, GO:0004984, GO:0004930, odorant binding, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 1 2 0 0 2 0 0 0 ENSG00000231863 chr6 160931080 160969771 + AL139393.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231864 chr9 137063535 137064581 + AL807752.3 antisense 5 5 11 4 4 0 1 0 1 ENSG00000231866 chr1 52925249 52925423 - AC099677.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231867 chr21 42508624 42509661 + AP001625.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000231868 chr1 6443034 6447006 - AL031848.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231870 chr17 30567700 30571748 - KRT17P3 unprocessed_pseudogene 0 0 1 0 2 0 0 0 0 ENSG00000231871 chr1 201688259 201829559 - IPO9-AS1 antisense 100873949 3 12 13 4 2 13 2 4 4 ENSG00000231873 chr3 40766207 40862626 + AC099560.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231874 chrY 9869664 9870781 + TSPY18P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231875 chrX 81363268 81364170 + AL359885.1 processed_pseudogene 1 2 3 3 19 3 3 5 4 ENSG00000231876 chr16 26302064 26334428 + AC009158.1 lincRNA 102723536 0 0 0 0 0 0 0 0 0 ENSG00000231877 chr1 238485445 238538305 + AL359551.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231878 chr20 49729591 49729842 - SNRPFP1 processed_pseudogene 0 0 0 3 0 1 0 0 0 ENSG00000231879 chr13 86725500 86726053 + TXNL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231880 chr11 47577725 47578277 + KF459542.1 antisense 24 16 27 14 9 7 7 4 15 ENSG00000231881 chr6 44073913 44077952 + AL109615.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231882 chr13 113128155 113128880 - F10-AS1 antisense 104413892 0 0 0 0 0 0 0 0 0 ENSG00000231883 chr6 151196681 151197638 - AL138733.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231884 chr3 48181547 48181726 + NDUFB1P1 processed_pseudogene 3 0 2 0 0 0 0 2 0 ENSG00000231887 chr12 10824960 11171608 - PRH1 protein_coding This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]. 5554 GO:0005615, extracellular space, GO:0005515, protein binding, 0 0 0 0 0 0 5 0 0 ENSG00000231888 chr3 177010719 177011067 - MTND5P15 processed_pseudogene 0 0 2 0 1 0 0 1 0 ENSG00000231889 chr6 111483511 111598302 + TRAF3IP2-AS1 antisense 18 20 24 28 26 42 38 35 21 ENSG00000231890 chr2 135985176 136022593 + DARS-AS1 antisense 125 147 83 401 338 533 350 271 373 ENSG00000231892 chr7 3196626 3198256 - AC073316.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231894 chr13 31063306 31115699 + WDR95P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231896 chr2 208469850 208540413 + AC019185.2 sense_intronic 1 0 0 0 0 0 0 0 0 ENSG00000231897 chr3 11906527 11912313 + MARK2P14 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231898 chr2 170332085 170408564 - AC012594.1 antisense 0 0 0 0 0 2 0 0 0 ENSG00000231900 chr1 55367466 55368774 + GOT2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231901 chr9 117840322 117897256 - AL354754.1 lincRNA 3 0 1 2 0 1 1 2 0 ENSG00000231902 chr9 7960413 7961080 - AL135923.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231903 chr2 202178660 202179391 - AC079354.3 antisense 0 0 1 0 0 0 2 0 0 ENSG00000231905 chr1 179183734 179184547 + SETP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231906 chr10 48546472 48546713 - AC016397.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231907 chr22 40673484 40674451 - GAPDHP37 processed_pseudogene 0 0 0 0 0 0 5 0 0 ENSG00000231908 chr2 208255247 208256181 + IDH1-AS1 antisense 100507475 0 0 0 0 0 0 2 0 0 ENSG00000231909 chr9 19460926 19464524 - MAP1LC3BP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231910 chr13 34574204 34574666 - GAMTP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231911 chr10 28658987 28659467 + TPRKBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231912 chr6 113791829 113837368 - FO393415.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000231913 chrX 21421822 21422294 - RARRES2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231914 chr13 18672827 18676163 + LINC00387 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231915 chr3 22989823 22991582 + SALL4P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231916 chr7 38311383 38311808 + AC006033.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231918 chr2 51032601 52407917 + AC007402.1 lincRNA 730100 0 0 0 0 0 0 0 0 2 ENSG00000231920 chr10 21174014 21175048 + NEBL-AS1 antisense 0 0 2 0 0 0 0 0 0 ENSG00000231922 chr14 53917270 53917753 - AL138479.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231923 chr7 138046654 138047897 + AC024082.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231924 chr19 42866464 42879822 - PSG1 protein_coding The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009]. 5669 GO:0005576, extracellular region, GO:0005515, protein binding, GO:0050900, GO:0007565, leukocyte migration, female pregnancy, 0 0 0 0 0 0 0 0 0 ENSG00000231925 chr6 33299694 33314387 - TAPBP protein_coding This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 6892 GO:0071556, GO:0042824, GO:0042824, GO:0033116, GO:0030670, GO:0016021, GO:0005789, GO:0005783, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, MHC class I peptide loading complex, MHC class I peptide loading complex, endoplasmic reticulum-Golgi intermediate compartment membrane, phagocytic vesicle membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, Golgi membrane, GO:0062061, GO:0051082, GO:0046979, GO:0046979, GO:0046978, GO:0046978, GO:0042605, GO:0042288, GO:0015433, GO:0005515, TAP complex binding, unfolded protein binding, TAP2 binding, TAP2 binding, TAP1 binding, TAP1 binding, peptide antigen binding, MHC class I protein binding, ATPase-coupled peptide antigen transmembrane transporter activity, protein binding, GO:1990668, GO:0065003, GO:0061635, GO:0050823, GO:0019885, GO:0015833, GO:0010468, GO:0006955, GO:0006890, GO:0002479, GO:0002474, GO:0002398, vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane, protein-containing complex assembly, regulation of protein complex stability, peptide antigen stabilization, antigen processing and presentation of endogenous peptide antigen via MHC class I, peptide transport, regulation of gene expression, immune response, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, MHC class Ib protein complex assembly, 2 1 1 0 0 0 0 0 0 ENSG00000231926 chr2 114260050 114261226 - SEPHS1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231927 chr7 1508655 1509427 - AC093734.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231929 chrX 134961711 134962305 - HMGB3P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231930 chr8 7200756 7200857 + AF228730.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231931 chr7 138060056 138060293 + AC024082.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231933 chr22 25876854 25903247 - Z98949.1 antisense 0 0 0 3 0 0 0 0 0 ENSG00000231934 chr20 30323812 30361730 - FAM242A antisense 0 0 0 0 0 0 0 0 0 ENSG00000231937 chrX 152138883 152186857 + AC116666.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231940 chr1 233288868 233289447 - RPS7P3 processed_pseudogene 1 1 0 0 0 0 0 0 2 ENSG00000231942 chr8 81807772 81808726 + HNRNPA1P36 processed_pseudogene 0 0 2 3 5 7 3 2 1 ENSG00000231943 chr2 113527568 113542672 - PGM5P4-AS1 lincRNA 103344932 0 0 0 0 0 0 0 0 0 ENSG00000231944 chrX 72688950 72712348 + PHKA1-AS1 antisense 101928259 0 0 0 0 0 0 0 0 0 ENSG00000231947 chrX 55179194 55179999 - MTND2P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231948 chr2 20590775 20592548 - HS1BP3-IT1 sense_intronic 100874343 2 2 2 1 1 0 2 4 0 ENSG00000231949 chr1 30415825 30421108 + AL161638.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231951 chr7 39609610 39610290 - AC004837.3 antisense 0 0 0 0 0 0 2 0 0 ENSG00000231952 chr7 32812757 32838570 + DPY19L1P2 unprocessed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000231953 chr1 25208139 25209437 + AL031432.1 antisense 0 0 0 1 2 0 1 4 0 ENSG00000231954 chr2 130272479 130273511 + MTND2P22 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231955 chr2 206115547 206122323 + AC007383.3 antisense 20 15 28 13 14 16 16 6 19 ENSG00000231956 chr7 87521461 87522410 + HNRNPA1P9 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000231957 chr10 78068623 78069538 - GNAI2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231961 chr20 5965180 5965511 + AL035461.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231963 chrX 73080167 73084635 + AL662864.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231964 chr10 45444570 45453121 - AL731567.1 antisense 102724323 1 0 0 0 0 1 2 0 0 ENSG00000231965 chr8 11175051 11175570 + AF131215.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000231966 chr1 179829609 179836124 - AL359853.2 lincRNA 4 2 2 2 5 3 0 0 3 ENSG00000231967 chr9 5356312 5356525 - AL135786.1 processed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000231969 chr2 149587196 149848233 + AC007364.1 antisense 116 62 135 44 36 63 44 33 56 ENSG00000231970 chr10 97401115 97419524 + AL355490.2 antisense 119 179 120 37 134 71 99 85 23 ENSG00000231971 chr6 134428240 134520585 - AL078590.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231976 chr10 26647986 26653454 + FAM238B transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231977 chr20 63166797 63180903 - AL096828.1 lincRNA 1 0 1 0 0 0 0 0 0 ENSG00000231978 chr1 21768269 21768575 + AL590103.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231979 chr1 239915439 239916955 - AL356361.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231980 chr7 158027373 158031128 + AC011899.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231981 chr13 98949719 98950447 - RPL7L1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231982 chr3 186826549 186827337 + AC112907.2 unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000231983 chr13 26052276 26053385 - LINC00415 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231984 chr1 199752491 199752890 + AL596266.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231985 chr1 71570956 71573558 + AL354949.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000231986 chr21 23888798 23890541 - AP000474.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231987 chr1 96254069 96374125 - LINC01787 lincRNA 101928241 0 0 0 0 0 0 0 0 0 ENSG00000231988 chrY 9030594 9039988 + OFD1P3Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231989 chr5 156850538 156852528 + PPP1R2B protein_coding 153743 GO:0005515, GO:0004864, protein binding, protein phosphatase inhibitor activity, GO:0043666, GO:0032515, GO:0009966, GO:0005977, regulation of phosphoprotein phosphatase activity, negative regulation of phosphoprotein phosphatase activity, regulation of signal transduction, glycogen metabolic process, 11 12 24 9 14 5 13 9 6 ENSG00000231990 chr9 93857083 93858333 + AL442224.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000231991 chr9 33624274 33625293 + ANXA2P2 processed_pseudogene 6 7 10 5 11 14 13 4 23 ENSG00000231992 chr1 95120147 95138554 + AC092802.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000231993 chr22 41174591 41197456 - EP300-AS1 antisense 48 50 65 50 47 58 47 33 56 ENSG00000231995 chr9 62266319 62266919 + AL590399.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231996 chr1 99842610 99842761 + AC096949.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000231999 chr1 89583241 89632894 - LRRC8C-DT antisense 400761 7 20 25 4 10 41 19 8 31 ENSG00000232000 chr9 14987302 15146401 - CLCN3P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232001 chr2 106521563 106544297 + AC108868.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000232002 chr2 242047695 242084138 - LINC01880 lincRNA 105373979 0 0 0 0 0 0 0 0 0 ENSG00000232003 chrY 24500263 24501505 - ZNF736P12Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232004 chr10 43604843 43606251 - CAP1P2 processed_pseudogene 54 27 69 11 23 14 5 24 16 ENSG00000232006 chr7 42954135 43113931 - AC005537.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232009 chrX 47389961 47392300 - AL591503.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232010 chr21 44250813 44251520 + AP001059.1 antisense 105372833 0 0 0 0 0 0 0 0 0 ENSG00000232015 chr1 77853355 77853893 + HSPE1P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232019 chr7 84939349 84940245 - AC074183.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232021 chr4 108167525 108256836 + LEF1-AS1 processed_transcript 641518 11 4 32 20 5 25 29 17 34 ENSG00000232022 chr1 46432129 46482493 + FAAHP1 transcribed_unprocessed_pseudogene 3 1 8 15 5 18 10 1 1 ENSG00000232023 chr2 228483261 228611395 - LINC01807 lincRNA 101928765 0 0 0 0 0 0 0 0 0 ENSG00000232024 chr8 35525176 35525763 - LSM12P1 processed_pseudogene 60 54 83 24 25 27 38 27 58 ENSG00000232027 chr1 51372270 51373224 + AL671986.1 processed_pseudogene 6 4 4 1 3 8 3 3 0 ENSG00000232028 chr2 37325340 37326797 + AC007391.1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000232029 chrY 22068820 22069151 + ELOCP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232030 chrX 26160601 26161824 + MAGEB6B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000232031 chr6 81724722 81736353 - AL078599.2 sense_intronic 0 0 0 0 2 0 0 0 0 ENSG00000232032 chr7 97908256 97908424 + AC079781.2 processed_pseudogene 0 0 1 2 0 0 0 0 0 ENSG00000232034 chr2 100822661 100847220 + AC092168.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000232035 chr9 10631750 10632203 - AL135790.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232036 chr1 184566511 184567835 + AL078645.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232037 chr1 21908098 21908580 + AL590556.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232039 chr8 7006293 7007389 - DEFT1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232040 chr6 28570535 28616212 - ZBED9 protein_coding 114821 GO:0005737, cytoplasm, GO:0003676, nucleic acid binding, GO:0050679, GO:0045787, GO:0015074, positive regulation of epithelial cell proliferation, positive regulation of cell cycle, DNA integration, 0 0 0 0 0 0 0 0 0 ENSG00000232041 chr13 73036401 73036848 + PSMD10P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232042 chrX 120273127 120273526 + AL512286.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232043 chr20 50570975 50578041 - AL133230.1 antisense 119 124 111 55 77 109 70 45 40 ENSG00000232044 chr2 5932687 6001275 + LINC01105 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000232046 chr2 66574030 66730157 + LINC01798 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232048 chr1 67660155 67661013 - HNRNPCP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232050 chr22 26006389 26006532 - Z98949.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232053 chr7 136092925 136437426 + AC078845.1 lincRNA 0 0 1 1 1 3 0 2 5 ENSG00000232054 chrX 124280530 124281422 + NPM1P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232056 chr2 10847577 10854955 + AC092687.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232057 chr2 1824412 1828667 + AC093390.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232058 chr17 15014805 15052276 + AC005772.1 lincRNA 101928475 0 0 0 0 0 0 0 0 0 ENSG00000232059 chr1 244694432 244694720 - AL451007.1 processed_pseudogene 5 8 4 5 0 0 0 2 0 ENSG00000232060 chr9 30558880 30559481 - SLC4A1APP1 processed_pseudogene 7 16 33 11 7 12 9 6 8 ENSG00000232063 chr9 94332476 94360948 + AL691447.2 lincRNA 19 9 7 8 12 24 13 12 6 ENSG00000232064 chrY 25590323 25592345 - USP9YP33 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232065 chr3 196631498 196632587 - LINC01063 antisense 101929769 0 3 0 0 1 2 0 0 0 ENSG00000232068 chrX 133989443 133990086 + AF003529.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232069 chrX 96195477 96195617 + RPS29P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232070 chr14 21098937 21103724 + TMEM253 protein_coding 643382 GO:0016021, integral component of membrane, 6 16 7 20 40 24 17 18 13 ENSG00000232072 chr7 46890625 47049678 - AC004870.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232073 chr22 33164063 33166439 + Z82198.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000232075 chr10 63634317 63634827 - MRPL35P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232077 chr1 193304745 193365953 + LINC01031 lincRNA 101929184 0 1 0 2 0 0 2 1 0 ENSG00000232079 chr21 28048404 28137611 + LINC01697 processed_transcript 284825 0 0 0 0 0 0 0 0 0 ENSG00000232080 chr6 32718005 32719170 + AL662789.1 processed_transcript 102725019 0 0 0 0 0 0 0 0 0 ENSG00000232081 chr22 33723832 33724912 - LARGE-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000232082 chr6 166460663 166465383 - RPS6KA2-IT1 sense_intronic 100874353 0 0 2 0 2 0 0 2 0 ENSG00000232083 chr17 80602549 80602926 - RPL31P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232084 chr2 100208254 100251484 + LINC01104 lincRNA 150577 0 0 0 0 0 0 0 0 0 ENSG00000232085 chr1 243164638 243169445 + AL606534.2 antisense 0 1 0 0 1 1 0 0 1 ENSG00000232086 chr9 70708047 70712863 + AL159990.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232087 chr13 108480226 108481817 + HCFC2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232089 chr2 221162771 221163053 + AC011233.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232090 chr2 112995517 112995937 + AC016724.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232091 chr10 116577308 116583317 + PNLIPP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232093 chr1 155045191 155046118 - DCST1-AS1 antisense 0 2 1 1 3 4 7 1 0 ENSG00000232096 chr1 182182730 182183096 - YPEL5P1 processed_pseudogene 2 4 3 0 4 1 0 0 0 ENSG00000232097 chr7 97938439 97938794 - AC079781.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232098 chr19 58404238 58408484 - AC012313.1 lincRNA 5 17 8 18 27 23 28 19 17 ENSG00000232100 chr1 218043505 218059140 + LINC01653 lincRNA 101929631 0 0 0 0 0 0 0 0 0 ENSG00000232101 chr2 128151154 128151304 - AC108059.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232102 chr13 23765934 23766104 - MTCO3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232104 chr9 3526723 3691814 + RFX3-AS1 lincRNA 101929302 4 2 10 16 0 12 12 5 0 ENSG00000232105 chr13 62327988 62328384 + RPL32P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232109 chr10 42660728 42661776 + VN1R54P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232110 chr10 89283765 89292125 + AL353751.1 antisense 5 3 1 1 0 2 0 2 3 ENSG00000232111 chrX 9402751 9404802 + AC073488.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232112 chr3 48440257 48444208 + TMA7 protein_coding 51372 GO:0002181, cytoplasmic translation, 988 802 990 609 903 809 628 871 774 ENSG00000232113 chr1 173635333 173637134 + TEX50 protein_coding 730159 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000232114 chr2 38769265 38770124 + AC018693.2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000232115 chr10 58106423 58106879 - AC026884.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232117 chr13 30151886 30159621 - LINC00384 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000232118 chr21 29370019 29376339 - BACH1-AS1 lincRNA 25 33 35 38 39 58 44 35 19 ENSG00000232119 chrX 120594010 120621074 + MCTS1 protein_coding 28985 GO:0022627, GO:0005886, GO:0005829, cytosolic small ribosomal subunit, plasma membrane, cytosol, GO:0005515, GO:0003743, protein binding, translation initiation factor activity, GO:0075522, GO:0040008, GO:0032790, GO:0008284, GO:0007049, GO:0006974, GO:0002188, GO:0001731, GO:0001731, IRES-dependent viral translational initiation, regulation of growth, ribosome disassembly, positive regulation of cell population proliferation, cell cycle, cellular response to DNA damage stimulus, translation reinitiation, formation of translation preinitiation complex, formation of translation preinitiation complex, 82 59 71 65 64 83 51 57 54 ENSG00000232120 chr6 64377795 64412779 + AL357375.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232121 chr20 62633681 62635504 - AL450469.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232124 chr21 44200616 44207399 - AP001057.1 processed_transcript 0 0 0 0 6 1 0 0 0 ENSG00000232125 chr2 206651621 206718396 - DYTN protein_coding This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019]. 391475 GO:0045202, GO:0005886, synapse, plasma membrane, GO:0008270, zinc ion binding, GO:0099536, synaptic signaling, 0 0 0 0 0 0 0 0 0 ENSG00000232128 chr2 94900990 94901602 + MTCO3P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232130 chr3 193144464 193176864 - AC092966.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232131 chr6 125797856 125818858 - NCOA7-AS1 antisense 104355145 0 0 0 0 0 0 2 1 0 ENSG00000232132 chr13 79477364 79481231 - NDFIP2-AS1 antisense 100874208 0 0 0 0 0 0 0 0 0 ENSG00000232133 chr2 201137516 201140027 - IMPDH1P10 processed_pseudogene 749 779 859 685 913 950 722 719 740 ENSG00000232134 chr1 220143964 220144351 - RPS15AP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232135 chr20 45536796 45537014 - AL031663.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232136 chr20 18642782 18643634 - DUXAP7 processed_pseudogene 0 0 3 0 0 2 0 0 0 ENSG00000232138 chr9 21231266 21231853 - IFNWP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232139 chr10 118357108 118365103 + LINC00867 lincRNA 100506126 0 0 0 0 0 0 0 0 0 ENSG00000232140 chr2 120553743 120558109 - AC073257.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232142 chr10 70198988 70199239 - RPS25P9 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000232144 chr2 62552463 62553434 - PSAT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232145 chr7 143796295 143796720 + AC099548.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232148 chr1 166763334 166792767 + FMO11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232149 chrX 123603139 123603931 + FERP1 processed_pseudogene 15 23 26 33 32 17 10 19 32 ENSG00000232150 chr13 50172089 50173181 + ST13P4 processed_pseudogene 4 9 9 4 4 10 6 3 0 ENSG00000232153 chr2 34734975 34737118 - AC073218.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232154 chr1 237948017 237949143 - MTCYBP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232155 chrX 154605858 154605950 + AC244090.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232158 chr9 19705338 19705655 + C11orf98P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232159 chr5 105099473 105100098 + RAB9BP1 processed_pseudogene 9366 0 0 0 0 0 0 0 0 0 ENSG00000232160 chrX 132217147 132432862 + RAP2C-AS1 antisense 101928578 129 129 238 46 61 93 58 58 67 ENSG00000232161 chr7 57770966 57771173 + AC023141.8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232162 chr13 27162855 27169135 + USP12-AS1 antisense 0 0 1 1 0 0 0 0 0 ENSG00000232163 chr13 23373423 23374061 + RPLP1P13 processed_pseudogene 0 0 0 1 0 0 1 0 0 ENSG00000232164 chr2 66383306 66392450 + LINC01873 lincRNA 729348 0 0 0 0 0 0 0 0 0 ENSG00000232165 chr7 63345840 63346732 + AC006455.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232166 chr1 234284972 234285541 + AL122008.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232167 chr3 27525353 27525394 + AC137675.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232168 chrX 79084936 79085848 + P2RY10BP unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232170 chr10 8259331 8268305 - LINC00708 lincRNA 100507143 0 0 0 0 0 0 0 0 0 ENSG00000232172 chr9 130651799 130652383 + AL359092.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232173 chr6 29573909 29574836 + OR2H5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232174 chr5 138620329 138620964 + AC113340.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232175 chr1 232917235 232918018 + AL122003.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232176 chr9 19200335 19201046 - AL161909.1 processed_pseudogene 1 0 0 2 2 4 2 0 1 ENSG00000232177 chrX 126472885 126473281 + MTND4P24 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000232179 chr9 92108858 92108989 + MTATP6P29 unprocessed_pseudogene 0 1 1 0 1 2 0 1 3 ENSG00000232183 chrX 138627077 138627343 + AL031386.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232184 chr1 243702857 243740821 - AL662889.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000232185 chr1 115564601 115565432 + CNOT7P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232186 chrX 75326772 75327999 - AL137013.1 processed_pseudogene 8 0 2 1 0 0 3 6 2 ENSG00000232187 chr13 22696023 22696574 - FTH1P7 processed_pseudogene 162 143 203 93 144 129 94 181 127 ENSG00000232188 chr1 160931739 160934380 - AL354714.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232190 chr16 87057784 87063991 + LINC02181 lincRNA 440390 0 0 0 0 0 0 0 0 0 ENSG00000232192 chr1 245206444 245234501 - KIF26B-AS1 antisense 111216275 0 0 0 0 0 0 0 0 0 ENSG00000232193 chr21 18917934 18935859 - AL157359.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232194 chr1 167820406 167821224 + Z99943.1 antisense 0 5 3 3 4 1 4 2 0 ENSG00000232195 chrY 2827982 2828218 + TOMM22P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232196 chr16 3370979 3372740 - MTRNR2L4 protein_coding 100463285 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0048019, receptor antagonist activity, GO:2000272, GO:1900118, negative regulation of signaling receptor activity, negative regulation of execution phase of apoptosis, 0 3 0 0 0 5 1 0 0 ENSG00000232197 chr6 170162517 170163027 + AL596442.1 antisense 102724511 0 0 0 0 0 0 0 0 0 ENSG00000232198 chr1 55372710 55373316 - MTCO2P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232199 chr7 109998434 109999624 - RPL3P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232200 chr20 24297585 24318086 - AL158090.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232202 chr2 42826322 42827617 - AC098824.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232203 chr9 31253901 31254777 + SLC25A6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232204 chr13 87890172 87892472 - TET1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232205 chrY 24104107 24106018 + CDY18P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232208 chr1 8907393 8907744 - AL139415.1 processed_pseudogene 1 2 1 3 1 0 6 1 0 ENSG00000232211 chr9 86632147 86696496 + AL353613.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232212 chr1 189775465 189814918 + LINC01701 lincRNA 107985456 0 0 0 0 0 0 0 0 0 ENSG00000232215 chr1 248003129 248004068 + OR2L6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232216 chr14 106470264 106470800 - IGHV3-43 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000232217 chr13 97986950 97987216 - FTLP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232218 chr22 32386668 32386868 + AL021937.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000232220 chr19 53874626 53876049 - AC008440.2 antisense 1596 2335 2134 851 2140 1437 1253 1979 1369 ENSG00000232223 chr1 166796266 166797183 + CNN2P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232225 chr13 89214847 89236890 - LINC01047 lincRNA 105616982 0 0 0 0 0 0 0 0 0 ENSG00000232226 chrY 12252321 12258033 - ARSFP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232227 chr2 192644102 192645387 - AC013401.1 lincRNA 112268441 0 0 0 0 0 0 0 0 0 ENSG00000232228 chr2 69594741 69595058 - AC092431.2 processed_pseudogene 0 0 0 1 2 4 1 0 0 ENSG00000232229 chr10 89829510 89840861 + LINC00865 lincRNA 643529 2 0 2 1 2 0 1 1 0 ENSG00000232230 chr10 100114417 100115223 - TPM4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232233 chr3 186810880 186825521 - LINC02043 lincRNA 102724699 0 0 0 0 0 0 0 0 0 ENSG00000232234 chr6 8102711 8343139 + AL355499.1 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000232235 chrY 9166085 9167702 - CDY3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232237 chr1 201113953 201127184 - ASCL5 protein_coding 647219 GO:0090575, GO:0005575, GO:0000785, RNA polymerase II transcription regulator complex, cellular_component, chromatin, GO:0046983, GO:0003674, GO:0000981, GO:0000981, GO:0000977, protein dimerization activity, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045944, GO:0008150, GO:0006357, positive regulation of transcription by RNA polymerase II, biological_process, regulation of transcription by RNA polymerase II, 1 0 0 1 1 0 0 0 0 ENSG00000232238 chr2 148595158 148595328 + RPS29P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232239 chr9 39739747 39741193 - RBPJP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232240 chr1 111323833 111324075 + AL356387.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232241 chr20 17479085 17479431 - DYNLT3P1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000232242 chr9 102611162 102612155 - ZYG11AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232243 chr13 19262797 19263873 - AL139327.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232245 chr1 54416256 54420860 + AL035415.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232249 chrX 153355733 153355956 + AC152007.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232252 chr13 86060813 86170890 + AL354994.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232254 chr22 36950529 36953723 - CSF2RBP1 unprocessed_pseudogene 84 43 87 18 36 12 21 25 21 ENSG00000232258 chr16 8537605 8590193 - TMEM114 protein_coding This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 283953 GO:0016327, GO:0016324, GO:0016021, apicolateral plasma membrane, apical plasma membrane, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000232259 chr10 127929376 127934517 - AL158166.2 lincRNA 3 2 10 1 6 4 0 7 1 ENSG00000232260 chr21 17518526 17518993 - BTF3L4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232261 chr1 171751543 171752025 - Z98751.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232263 chr21 30289145 30289514 - KRTAP25-1 protein_coding 100131902 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000232264 chr4 9325165 9327116 + USP17L24 protein_coding 728369 GO:0005829, GO:0005783, GO:0005730, GO:0005634, GO:0005634, cytosol, endoplasmic reticulum, nucleolus, nucleus, nucleus, GO:0005540, GO:0004843, GO:0004843, GO:0004197, GO:0003723, hyaluronic acid binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, RNA binding, GO:1904037, GO:0071947, GO:0042981, GO:0016579, GO:0006915, positive regulation of epithelial cell apoptotic process, protein deubiquitination involved in ubiquitin-dependent protein catabolic process, regulation of apoptotic process, protein deubiquitination, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000232265 chr1 148162360 148186630 + AC239803.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232267 chrX 68771322 68772578 + ACTR3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232268 chr11 4593614 4596574 + OR52I1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390037 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 1 3 0 0 2 ENSG00000232271 chr20 7069614 7146656 + AL096799.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232273 chr1 37544763 37545294 + FTH1P1 processed_pseudogene 8 11 5 14 33 29 23 25 24 ENSG00000232277 chr2 111952144 111952671 - AC104651.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232281 chr9 21178589 21179188 - IFNWP15 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232282 chrX 102785667 102786604 + MTND1P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232283 chr9 96246462 96250393 + HSD17B3-AS1 antisense 0 0 0 0 0 0 4 0 0 ENSG00000232284 chr1 67832303 68202987 + GNG12-AS1 antisense 100289178 94 39 45 83 50 67 161 54 55 ENSG00000232285 chr2 48780602 48780895 + ELOBP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232286 chr20 52858338 52862855 - AL121902.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232287 chr3 11006098 11019224 - SLC6A1-AS1 antisense 100874090 0 0 0 0 0 0 0 0 0 ENSG00000232290 chr6 151054897 151056057 - AL133260.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232292 chr2 172893763 172894383 - ALDH7A1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232293 chrX 94636663 94639570 - PAICSP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232294 chr20 52671917 52690929 + AL031674.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232295 chr6 71221457 71328228 - AL589935.1 processed_transcript 1583 1843 2084 261 1040 545 449 906 543 ENSG00000232296 chr1 202028606 202028692 + AL691482.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232298 chr1 24307556 24321901 - AL138902.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232299 chr6 112476538 112481636 - AL357514.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232300 chr17 46558830 46562795 - FAM215B lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000232301 chr7 101299578 101301346 + LNCPRESS1 lincRNA 101927721 0 0 0 0 0 0 0 0 0 ENSG00000232303 chr9 32566148 32567126 - DFFBP1 processed_pseudogene 17 16 23 20 39 20 32 32 24 ENSG00000232305 chr22 17424388 17424775 - CLCP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232306 chr2 238295392 238300620 - AC012485.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232307 chr13 105459055 105505681 - DAOA-AS1 antisense 282706 0 0 0 0 0 0 0 0 0 ENSG00000232309 chr1 182127297 182128682 - AL390856.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232310 chr6 134520163 134673960 - AL078590.3 lincRNA 0 0 1 0 0 0 0 0 2 ENSG00000232311 chr6 109826522 109828785 + AL512303.1 lincRNA 0 1 0 0 14 0 8 8 3 ENSG00000232314 chr13 69894101 69895085 - PSMC1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232316 chr6 113428540 113433421 - LINC02518 lincRNA 1 10 5 0 5 0 0 1 0 ENSG00000232320 chr2 161340816 161341326 - AC009299.2 processed_pseudogene 33 3 54 5 5 22 6 5 9 ENSG00000232324 chr19 53864763 53866140 + AC008440.3 lincRNA 2 2 2 9 6 14 5 7 2 ENSG00000232325 chr7 70972 95683 - AC093627.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232327 chr4 80386178 80388716 - AC105917.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232328 chr2 236733382 236754363 + AC084030.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232332 chrX 76029895 76030330 + AC233982.1 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000232333 chr20 17516843 17517307 + RPS27AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232334 chr10 124004304 124004828 - AL683842.1 processed_pseudogene 25 75 51 17 79 22 43 51 34 ENSG00000232335 chr1 35739389 35743576 + AL354864.1 antisense 2 4 0 2 2 2 1 0 0 ENSG00000232337 chr2 161048606 161050546 - AC009313.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232341 chr1 166747379 166748660 + RPL4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232342 chr10 74506081 74530553 - AC022540.1 antisense 3 6 3 4 7 1 8 1 4 ENSG00000232344 chr17 18010643 18011822 + AC087163.2 processed_pseudogene 0 3 2 0 6 18 1 0 0 ENSG00000232346 chr22 32039490 32039896 + Z74021.1 processed_pseudogene 5 5 11 9 3 4 10 2 6 ENSG00000232347 chr1 247210691 247241823 - AL390728.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232348 chrY 8638294 8644842 + LINC00279 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232349 chr2 132488554 132489088 - YBX1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232350 chr22 22689831 22689978 + AC244250.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232352 chr3 50266641 50267371 - SEMA3B-AS1 antisense 101928931 0 2 1 3 4 0 1 6 2 ENSG00000232353 chr3 192029880 192036557 + AC026320.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232354 chr3 42506465 42533258 - VIPR1-AS1 antisense 3 0 4 14 3 13 7 9 18 ENSG00000232355 chr9 134868236 134868475 + AL603650.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232358 chr20 50999370 51010019 + AL050404.1 antisense 0 0 0 0 0 0 0 5 0 ENSG00000232359 chr2 150595102 150620067 - AC104777.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232360 chr21 32844367 32849934 - AP000281.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232361 chr7 150614061 150614764 - AC069304.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232362 chr6 122859678 122859988 - ATP5MGP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232363 chr22 45435864 45448743 - AL021391.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232366 chr1 157724180 157725020 - VDAC1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232368 chrX 30630298 30630825 + FTLP2 processed_pseudogene 1 2 1 3 1 3 0 0 0 ENSG00000232369 chr1 44988234 44988725 - PPIAP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232370 chrX 38479215 38479913 + AF241726.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232373 chr13 95694569 95695705 + MTCYBP3 processed_pseudogene 2 5 2 3 1 4 2 2 0 ENSG00000232374 chr3 158841093 158841960 - GPR79 processed_pseudogene 1 7 0 2 1 0 2 1 6 ENSG00000232375 chr3 43037121 43037451 + AC092042.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232377 chr2 143937073 143964156 + AC016910.1 antisense 101928386 3 2 2 2 6 3 5 9 5 ENSG00000232378 chr13 36926438 36927219 - RPL29P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232379 chrX 136947748 136948133 - RPL22P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232380 chr13 68985058 68986064 + ZDHHC20P4 processed_pseudogene 0 1 1 0 0 0 0 3 0 ENSG00000232381 chr11 5719290 5720212 + OR52U1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232382 chr3 98463201 98472924 + OR5K1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26339 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000232383 chr7 26276195 26276606 + AC010677.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000232385 chr7 94695027 94695819 - RPS3AP25 processed_pseudogene 1 0 1 1 0 8 0 1 0 ENSG00000232386 chr15 100849561 100861756 + AC015712.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232387 chr9 122761844 122762233 + SKA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232388 chr20 18567347 18569563 + SMIM26 protein_coding 388789 GO:0016021, integral component of membrane, 28 47 58 39 57 104 25 68 65 ENSG00000232389 chr6 70608234 70609334 - AL583856.1 processed_pseudogene 7 11 10 1 3 11 1 6 9 ENSG00000232390 chr11 3321862 3322202 + NDUFA5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232391 chr7 147167344 147167572 + RANP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232392 chrX 11334233 11335901 - AC002366.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232393 chr1 91023919 91024804 + RPL5P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232394 chr15 27775621 27776798 + AC090696.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232395 chr6 114477350 114488752 - AL138830.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232396 chr22 29705256 29719859 - AC004882.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232398 chr4 67766480 67773854 - TMPRSS11CP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232399 chr4 9224896 9226847 + USP17L13 protein_coding 100287238 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000232400 chr7 16864267 16866308 - RAD17P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232401 chr21 41716436 41717580 + LINC00112 antisense 0 0 0 2 0 0 0 0 0 ENSG00000232403 chr2 63108118 63108429 - AC009501.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232406 chr20 36148726 36155760 - AL121895.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000232407 chr3 60690225 60690719 - PPIAP70 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232408 chr2 130583549 130590463 - AC140481.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232409 chr2 208516908 208517230 + AC019185.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232411 chr2 165833048 165839098 - AC009495.2 lincRNA 0 1 0 0 0 0 0 0 2 ENSG00000232412 chrX 123959233 123961341 - AL121601.1 lincRNA 101928402 2 0 2 6 0 5 1 7 17 ENSG00000232413 chr9 126057580 126159613 + AL589923.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232415 chr7 74059576 74062284 - ELN-AS1 antisense 0 1 1 0 0 0 0 0 0 ENSG00000232416 chr3 139104185 139125171 + BPESC1 lincRNA 60467 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000232418 chr7 53787167 53787298 + AC074348.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232419 chrY 8704472 8705283 + TTTY19 lincRNA 252952 0 0 0 0 0 0 0 0 0 ENSG00000232420 chr10 80394 86265 - IL9RP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232422 chr6 72986313 72987750 + KNOP1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232423 chr1 12938472 12947580 - PRAMEF6 protein_coding 440561 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000232424 chrY 23740258 23746693 - USP9YP29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232429 chr19 33589206 33589688 - RPL21P131 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232430 chr2 182788098 182788435 + RPL31P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232431 chr15 28788243 28792002 + AC055876.1 transcribed_unprocessed_pseudogene 100289656 0 0 0 0 0 0 0 0 0 ENSG00000232433 chr9 40348599 40349791 + GXYLT1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232434 chr9 136844415 136848801 + AJM1 protein_coding 389813 GO:0016324, GO:0005929, GO:0005912, apical plasma membrane, cilium, adherens junction, GO:0045216, cell-cell junction organization, 6 5 10 30 14 27 35 11 12 ENSG00000232436 chr1 221508559 221510979 + AL360013.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232437 chr10 75125217 75125862 + RPS26P42 processed_pseudogene 1 1 0 0 0 4 5 4 6 ENSG00000232439 chr3 38526802 38527325 - RPL18AP7 processed_pseudogene 0 2 2 0 2 7 0 0 7 ENSG00000232442 chr20 63627227 63628824 + MHENCR antisense 100505771 42 66 81 24 68 54 42 38 75 ENSG00000232444 chr2 16316324 16319566 - AC010745.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232445 chr7 101308346 101310985 + AC006329.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232446 chrX 26147774 26148281 + AC129850.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232447 chr13 84521725 84523915 + MTND5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232448 chr20 10180235 10185775 + AL354824.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232450 chr1 113698884 113699631 - AL133517.1 transcribed_processed_pseudogene 11 11 18 11 19 3 10 23 1 ENSG00000232451 chr2 23018125 23199056 - AC018467.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232453 chr1 58882868 58903747 - AC105277.1 lincRNA 105378753 3 3 12 6 7 12 2 6 7 ENSG00000232454 chr9 37836044 37836394 + AL138752.1 processed_pseudogene 1 0 1 0 0 1 1 0 2 ENSG00000232455 chr3 45483974 45509545 - LARS2-AS1 antisense 0 0 0 0 1 0 0 0 0 ENSG00000232456 chr1 16035178 16040029 - AL355994.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232457 chr17 64953683 64956546 + SLC16A6P1 transcribed_unprocessed_pseudogene 0 20 0 0 5 2 1 3 0 ENSG00000232458 chr7 40964667 40979939 - LINC01450 lincRNA 101928744 0 0 0 0 0 0 0 0 0 ENSG00000232459 chr15 101828741 101829679 + OR4F14P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232460 chr11 121361854 121362865 - BMPR1AP2 processed_pseudogene 2 0 0 2 0 0 9 0 0 ENSG00000232461 chr3 176643941 176867838 - AC092920.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232463 chr1 176231200 176231830 - AL359265.2 processed_pseudogene 0 0 2 0 1 0 6 1 0 ENSG00000232464 chr22 25959074 25983526 - Z98949.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232465 chr20 52487922 52500591 - AL049765.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232466 chr9 26880178 26880549 - AL356133.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232467 chr1 45846994 45847594 - TMA16P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232470 chr10 110869743 110871594 + AL136368.1 lincRNA 18 67 56 26 49 24 23 25 24 ENSG00000232471 chr4 49550032 49557400 + AC119751.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232472 chrX 24788392 24789069 - EEF1B2P3 processed_pseudogene 9 9 22 57 20 62 41 24 39 ENSG00000232474 chr2 133431666 133433897 - NCKAP5-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000232475 chrY 22048554 22049347 - HSFY5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232479 chr2 202924609 202925904 + AC010900.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000232480 chr1 218344196 218345678 - TGFB2-AS1 antisense 728463 0 0 0 0 0 0 0 0 0 ENSG00000232482 chr1 23410832 23412146 + AL357134.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232485 chr2 216479030 216498761 - AC098820.1 processed_transcript 0 3 0 4 4 0 3 1 0 ENSG00000232486 chr9 105758164 105760755 + AL592437.2 processed_pseudogene 1 0 2 0 4 0 0 1 0 ENSG00000232487 chr13 114107569 114108820 - RASA3-IT1 sense_intronic 0 1 3 0 3 2 0 2 2 ENSG00000232489 chr13 30541643 30542897 - MFAP1P1 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000232490 chr3 31704058 31721652 + OSBPL10-AS1 antisense 100874206 0 0 0 0 0 0 0 0 5 ENSG00000232491 chr7 66556216 66557065 + SAPCD2P3 processed_pseudogene 0 3 1 8 5 5 13 7 6 ENSG00000232492 chr7 18948898 18949762 - NPM1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232493 chr20 41547422 41547922 + RPL12P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232494 chr9 79874696 79886678 - AL161912.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232496 chrX 122538253 122539460 + RPL3P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232497 chr10 22162992 22165794 + ADIPOR1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232499 chr1 113449700 113450728 + AL391058.1 processed_pseudogene 8 14 7 11 7 17 20 15 5 ENSG00000232500 chr11 64500853 64505386 + AP005273.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232502 chr2 94760774 94761116 - AC073464.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232503 chr2 130776646 130776957 + CYCSP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232504 chr2 85889280 85890980 + ST3GAL5-AS1 lincRNA 0 0 0 1 0 0 0 1 0 ENSG00000232508 chr2 88364695 88365608 - MRPL45P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232511 chr11 56667545 56674664 - OR2AH1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232512 chr21 25095022 25103670 + AP000233.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232514 chr1 48497263 48497736 - AL356968.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232515 chr22 22347807 22348164 + AC245060.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232517 chr5 54808210 54872551 - AC112198.2 unitary_pseudogene 0 0 3 0 0 0 0 1 0 ENSG00000232518 chr2 38668202 38671421 - AC074366.1 antisense 1 1 0 0 0 0 0 0 0 ENSG00000232519 chr1 155609776 155610380 - AL353807.2 antisense 1 4 2 2 5 0 0 4 0 ENSG00000232520 chr2 230886500 230897091 + AC012507.2 antisense 151484 0 0 0 0 0 0 0 0 0 ENSG00000232522 chrY 20001185 20012204 - ZNF886P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232524 chr7 123456629 123459856 + AC073323.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232525 chr10 34875210 34875422 + SS18L2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232526 chr2 42463139 42463997 - VDAC1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232527 chr1 144227030 144250288 - AC245595.1 lincRNA 100996732 0 0 1 0 0 0 0 0 0 ENSG00000232528 chr20 1767957 1779995 - AL109809.1 transcribed_unitary_pseudogene 100289473 127 140 150 76 128 80 90 110 105 ENSG00000232529 chr6 155380511 155381183 - AL031773.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232530 chr22 30239194 30240538 + LIF-AS1 antisense 110806283 0 0 0 2 0 0 0 0 0 ENSG00000232531 chr2 91747940 91748986 - AC027612.3 processed_pseudogene 19 11 25 10 12 17 2 11 10 ENSG00000232533 chr7 143379692 143380495 - AC093673.1 antisense 174 180 198 68 108 158 123 113 99 ENSG00000232535 chr3 98306752 98312843 + OR5H8 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232536 chr1 151540516 151561855 + AL365436.2 sense_intronic 0 1 0 5 0 2 2 0 0 ENSG00000232537 chr1 209147267 209155101 - AC092810.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232539 chr21 33057829 33064983 + LINC00945 lincRNA 6 4 9 4 0 0 4 3 0 ENSG00000232540 chr13 43394525 43394825 + RPL36P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232542 chr1 97394154 97420141 - DPYD-IT1 sense_intronic 1 4 2 5 7 4 4 3 1 ENSG00000232543 chr14 105903616 105903631 - IGHD4-11 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000232545 chr22 24101689 24103354 + AC253536.3 sense_intronic 1 6 2 6 2 6 0 0 0 ENSG00000232546 chr7 66848496 66858136 + AC027644.1 unprocessed_pseudogene 3 6 3 4 3 7 2 1 0 ENSG00000232548 chr2 83522814 83523502 + LINC01809 lincRNA 101928031 0 0 0 0 0 0 0 0 0 ENSG00000232549 chrX 139446891 139447676 + SRD5A1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232551 chr1 106804474 106806032 - MTCO1P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232553 chr7 23585062 23586355 - CLK2P1 processed_pseudogene 0 2 0 5 2 1 3 3 0 ENSG00000232554 chr10 45099487 45154596 - RSU1P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000232555 chr2 172315287 172323737 + AC104088.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232556 chr2 101520834 101521976 - AC092570.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232557 chr1 23907111 23907885 + AL590609.3 antisense 0 3 0 0 0 0 0 0 0 ENSG00000232558 chr1 111853762 111856905 - KCND3-IT1 sense_intronic 100874295 0 0 0 0 0 0 0 0 0 ENSG00000232560 chr21 17438890 17449185 + LINC01549 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232562 chrX 51979223 51980012 - TPMTP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232563 chr3 1394173 1394448 - CRB3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232564 chr22 40521800 40526707 + MRTFA-AS1 antisense 101927257 9 9 4 8 3 15 0 0 6 ENSG00000232568 chr2 186261419 186261919 - RPL23AP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232573 chr14 98972879 98973301 - RPL3P4 processed_pseudogene 70 37 99 192 75 182 146 72 154 ENSG00000232576 chrX 88908403 88908763 + AL645638.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232578 chr5 94592771 94594791 + AC093311.1 processed_pseudogene 24 22 42 11 19 49 15 11 44 ENSG00000232579 chr19 12504665 12504890 + MTCO1P27 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232581 chr7 6578565 6588974 - AC079742.1 antisense 5 2 4 10 9 18 17 3 6 ENSG00000232582 chrX 135135149 135135770 - AC234771.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232583 chrY 7100733 7106502 - GPR143P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232585 chrY 23972780 23995081 + OFD1P12Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232586 chr1 180949699 180954887 - KIAA1614-AS1 antisense 103344928 8 24 22 5 22 14 7 26 5 ENSG00000232587 chr13 28214513 28215897 + EEF1A1P3 processed_pseudogene 8 19 6 19 30 22 32 25 38 ENSG00000232590 chr9 73573615 73579498 + AL451127.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232591 chr10 7445558 7471942 - AL139125.1 lincRNA 0 0 0 4 0 0 0 0 0 ENSG00000232593 chrX 53094145 53170914 + KANTR protein_coding 17 16 35 44 11 39 52 16 24 ENSG00000232594 chr2 94961047 94961503 - AC103563.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232595 chr20 23711320 23711406 - CST2P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232596 chr1 4571481 4594009 + LINC01646 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232597 chr2 103856659 103880209 - AC013727.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232598 chr6 36940071 36944675 - AL122034.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232599 chrX 125203805 125204338 - AL008707.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232600 chr8 144437675 144439971 + TONSL-AS1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000232601 chr3 174302944 174303287 - AC069218.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232603 chr22 22370829 22371120 + AC245291.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232604 chr2 52864235 52866631 + AC010967.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232605 chr7 84876554 84876956 + HMGN2P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232606 chr2 144566435 144579434 + LINC01412 lincRNA 3 0 1 0 0 0 0 0 0 ENSG00000232608 chr21 39216624 39217506 + TIMM9P2 processed_pseudogene 2 5 1 1 2 4 1 0 2 ENSG00000232610 chr3 190714811 190716399 + CCT6P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232611 chrX 136840931 136847797 - AL683813.1 lincRNA 6 2 13 8 7 12 1 10 11 ENSG00000232612 chr7 54656358 54656734 + RPL31P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232613 chr2 65030727 65053017 + LINC02576 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232614 chrY 25730011 25735160 - USP9YP9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232615 chr5 1614836 1616334 + AC026412.2 processed_pseudogene 0 3 0 0 0 1 2 2 0 ENSG00000232617 chrY 9665229 9669010 + AC017019.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232618 chr6 142950211 142956646 + AL355304.1 lincRNA 10 15 8 3 9 13 15 5 31 ENSG00000232620 chrY 6520463 6520929 + TSPY17P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232621 chr1 207225798 207229202 + C4BPAP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232622 chr1 84636158 84637106 - AC114482.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000232623 chr21 32306464 32308737 - AP000266.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232624 chr10 28743506 28941910 + LINC01517 processed_transcript 283080 0 0 0 0 0 0 0 0 0 ENSG00000232625 chr2 218841599 218842065 + RPL23AP31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232626 chr1 202438396 202439957 + AC099336.1 transcribed_processed_pseudogene 0 1 0 0 0 0 2 0 0 ENSG00000232627 chr7 23365618 23365976 + AC021876.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232628 chr1 224208747 224213279 - AC092809.2 sense_intronic 101927143 0 0 0 4 4 0 2 2 0 ENSG00000232629 chr6 32756098 32763534 - HLA-DQB2 protein_coding HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]. 3120 GO:0071556, GO:0042613, GO:0032588, GO:0030669, GO:0030666, GO:0030658, GO:0012507, GO:0010008, GO:0005886, GO:0005765, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, MHC class II protein complex, trans-Golgi network membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, ER to Golgi transport vesicle membrane, endosome membrane, plasma membrane, lysosomal membrane, Golgi membrane, GO:0032395, MHC class II receptor activity, GO:0060333, GO:0050852, GO:0019886, GO:0006955, GO:0002250, interferon-gamma-mediated signaling pathway, T cell receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class II, immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000232630 chr9 125150653 125151589 + PRPS1P2 processed_pseudogene 20 34 16 36 61 82 36 61 40 ENSG00000232631 chr2 211777206 211777856 + MTND2P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232633 chr5 113323028 113437174 + AC079465.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232634 chrY 21221106 21222089 - NEFLP1 processed_pseudogene 3 11 8 1 3 0 8 6 0 ENSG00000232636 chr13 87427200 87447235 - AL360267.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232638 chr10 8051541 8053084 + AL390294.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000232640 chr6 169725091 169725854 - AL354892.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232642 chr2 24165884 24175005 - AC008073.2 antisense 1 0 0 2 3 5 3 1 1 ENSG00000232643 chr13 30154066 30154586 + LINC00385 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232644 chrX 26200042 26200647 + AC005297.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232645 chr20 23356594 23358116 - LINC01431 lincRNA 2 6 4 2 2 35 10 5 5 ENSG00000232646 chr10 73065126 73065467 + AL731563.1 processed_pseudogene 1 0 0 0 0 0 0 1 0 ENSG00000232647 chr13 59071462 59071803 - POLR3KP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232648 chr4 183494938 183504494 - AC107214.1 antisense 0 0 0 0 4 0 0 0 1 ENSG00000232650 chr1 119328176 119356182 + LINC01780 lincRNA 105378934 0 0 0 0 0 0 0 0 0 ENSG00000232653 chr15 32593456 32607310 + GOLGA8N protein_coding 643699 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 3 4 2 0 0 2 1 ENSG00000232654 chr6 3045384 3045800 + FAM136BP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232655 chr22 44443327 44444788 + LINC01656 lincRNA 101927526 0 0 0 0 0 0 0 0 0 ENSG00000232656 chr10 1022666 1044201 + IDI2-AS1 antisense 55853 226 211 241 225 319 251 232 258 232 ENSG00000232658 chr2 193256483 193257757 + AC092638.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232661 chr7 117560733 117564676 - CFTR-AS1 antisense 111082987 0 0 0 0 0 0 0 0 0 ENSG00000232662 chr13 113276616 113277734 + LDHBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232663 chr1 8909742 8909904 + AL139415.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232664 chrX 134204353 134205916 + LARP1BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232665 chrX 104647216 104647999 - PHBP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232667 chr7 80312574 80391474 - AC004862.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232668 chr2 52883243 52883455 + AC010967.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232671 chr1 151280024 151281929 - AL391069.2 antisense 85 92 81 93 163 232 94 140 194 ENSG00000232672 chr1 77773865 77774864 - ACTG1P21 processed_pseudogene 0 0 0 0 1 1 0 0 0 ENSG00000232675 chr20 19693209 19697576 - AL121830.1 processed_transcript 3 3 2 5 0 0 0 0 2 ENSG00000232676 chr1 79521080 79522203 + ADH5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232677 chr19 36313067 36331718 - LINC00665 lincRNA 100506930 1 1 1 11 0 8 1 1 9 ENSG00000232678 chr1 152077952 152078211 + SPTLC1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232679 chr1 222041705 222064763 - LINC01705 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232680 chr19 35432957 35434642 - AC002511.1 lincRNA 37 46 77 8 19 24 14 22 26 ENSG00000232682 chr10 60050668 60060743 + AL592430.1 antisense 6 1 4 3 1 6 7 2 3 ENSG00000232684 chr13 112745449 112754693 - ATP11A-AS1 antisense 100874205 4 4 4 0 6 13 7 8 2 ENSG00000232685 chr13 19008259 19012559 + LINC00442 antisense 348021 0 0 0 0 0 0 0 0 0 ENSG00000232687 chr21 29127701 29128188 - RPL12P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232688 chr2 66921510 66922457 - LINC01628 lincRNA 102724321 0 0 0 0 0 0 0 0 0 ENSG00000232690 chr2 234455157 234455783 - HSPE1P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232692 chr21 26378552 26471698 + AP001596.1 antisense 0 0 0 0 0 1 0 0 0 ENSG00000232693 chr2 65373700 65380685 - AC012370.1 sense_intronic 3 0 1 0 2 0 1 8 11 ENSG00000232695 chrY 25860943 25861268 + ELOCP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232696 chr2 46078015 46078828 - AC017006.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232699 chr6 99174744 99175479 + BDH2P1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000232701 chr13 74377163 74377951 - RPL21P108 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232702 chr6 51410081 51410537 - AL158050.1 processed_pseudogene 1 0 0 0 0 3 3 0 1 ENSG00000232706 chr10 50676743 50686326 + NUTM2HP unprocessed_pseudogene 5 3 4 0 2 0 3 1 1 ENSG00000232707 chr22 32134028 32134133 + AP1B1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232709 chr10 92418667 92420875 + MARK2P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232710 chr22 42136433 42139927 - AC254562.2 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000232712 chr20 21154023 21218289 - KIZ-AS1 antisense 101929591 3 6 6 3 5 5 1 1 5 ENSG00000232713 chr2 60938204 60938604 - AC010733.1 processed_pseudogene 18 23 39 23 12 20 18 10 11 ENSG00000232714 chr1 235541759 235542097 - MTND3P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232715 chr7 158590629 158591120 + LINC01022 antisense 0 0 0 1 0 0 0 0 0 ENSG00000232716 chr7 130840204 130843725 - AC016831.2 processed_pseudogene 3 2 0 2 5 0 10 0 4 ENSG00000232717 chr2 95574901 95580769 + TRIM51JP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232718 chr2 3688021 3688981 - GAPDHP48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232719 chr2 201101382 201103136 + AC007272.1 lincRNA 10 6 15 12 14 17 13 8 7 ENSG00000232721 chr1 143736066 143739506 + AC239800.2 lincRNA 1 0 1 0 0 0 0 1 2 ENSG00000232722 chr8 142567260 142577881 - MROH4P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232723 chr2 121309995 121310412 + AC013399.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232724 chr17 75074306 75079549 + TRIM80P unitary_pseudogene 0 2 0 0 5 0 8 3 0 ENSG00000232725 chrX 153735626 153766478 - U52111.1 antisense 5 4 2 10 6 8 2 6 7 ENSG00000232727 chr7 64433830 64434592 + YWHAEP1 processed_pseudogene 0 0 3 0 0 1 0 1 0 ENSG00000232728 chr10 109528119 109529008 + PHB2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232729 chr7 74688939 74729001 - AC211433.1 processed_transcript 101926943 16 19 33 37 18 24 25 11 16 ENSG00000232730 chrY 12321623 12322835 + FAM8A4P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232732 chr2 199867396 199911159 - AC097717.1 processed_transcript 0 0 2 0 1 3 3 0 0 ENSG00000232734 chr10 69432972 69433371 - ATP5MC1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232735 chrX 82998699 82999236 + ATG4AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232736 chr7 35768122 35768640 - AC007551.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232738 chr20 9575608 9577689 + AL353612.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232739 chr10 15237492 15241767 + AL607028.1 antisense 0 0 0 0 0 0 0 0 1 ENSG00000232740 chr2 123066151 123073481 - LINC01826 lincRNA 107985818 0 0 0 0 0 0 0 0 0 ENSG00000232742 chr2 131460999 131461577 + RHOQP2 processed_pseudogene 2 3 4 2 5 0 1 4 2 ENSG00000232743 chr9 87816465 87817970 + ELF2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232744 chrY 18121195 18123799 - USP9YP16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232746 chr3 12877522 12885211 - LINC02022 lincRNA 105376955 0 0 0 0 0 0 0 0 0 ENSG00000232747 chr2 89895502 89895772 + IGKV1D-35 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232748 chr16 31056460 31062803 + AC135050.1 lincRNA 88 136 105 155 272 180 185 153 188 ENSG00000232749 chr9 82451656 82455225 + AL162726.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232750 chr1 179035309 179035652 - AL139132.1 processed_pseudogene 0 0 0 0 0 0 0 1 1 ENSG00000232751 chr1 173351689 173352004 + AL645568.3 processed_pseudogene 0 1 0 0 1 0 0 0 0 ENSG00000232752 chr1 93924743 93925385 - MTCO3P21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232754 chr22 41169190 41183144 - AL035658.1 antisense 199 148 215 61 68 110 74 58 77 ENSG00000232756 chr7 77990384 77995171 + AC004990.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232757 chr6 30031713 30033003 + ETF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232759 chr7 22563337 22573996 + AC002480.1 antisense 100506178 0 0 1 0 0 0 0 0 0 ENSG00000232760 chr2 131833783 131836532 - AC103564.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232762 chr1 53304536 53307462 + AL355483.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232764 chrY 23025594 23026663 + TRIM60P8Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232765 chrX 55279839 55288785 + AL158819.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232766 chr3 27703129 27703568 - AC098614.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232767 chr10 116670103 116672739 + AC016825.1 antisense 105378499 0 0 0 0 0 0 0 0 0 ENSG00000232768 chr1 31050872 31051034 + AL356320.1 processed_pseudogene 0 0 0 0 0 0 1 0 4 ENSG00000232771 chr22 21341595 21345258 + PPP1R26P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232772 chr2 143096839 143098007 - MTND4P22 processed_pseudogene 14 12 19 11 11 18 11 8 1 ENSG00000232773 chr4 9422313 9429702 + DEFB130D unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232774 chr14 61570540 61658696 + FLJ22447 lincRNA 3 13 21 0 1 5 4 3 8 ENSG00000232775 chr22 15805263 15820884 - BMS1P22 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232777 chr21 43115334 43115709 - MRPL51P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232778 chr6 107931800 107932254 + RPL23AP50 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000232780 chr1 119434166 119435080 - GAPDHP74 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232783 chr3 198110112 198111878 + FRG2FP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232786 chr13 45552863 45553136 - TIMM9P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232787 chrX 131596121 131596987 + OR7L1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232788 chr2 172464262 172466022 - ITGA6-AS1 antisense 101929947 11 10 15 14 3 21 9 9 4 ENSG00000232789 chr2 219358870 219358983 - AC053503.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232790 chr7 20835431 21023148 + LINC01162 lincRNA 104355138 0 0 0 0 0 0 0 0 0 ENSG00000232791 chr1 110853939 110854892 + OR11I1P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232792 chr1 185071567 185072035 - FTH1P25 processed_pseudogene 3 0 0 0 0 0 3 0 0 ENSG00000232793 chr1 245282831 245283089 - DNAJC19P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232794 chrX 64044305 64045058 + HNRNPDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232795 chr13 35185294 35186679 + SCAND3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232797 chr21 13792635 13793141 + FAM207CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232798 chr9 39892550 39892895 + CR769767.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232799 chr2 209145241 209147687 + CRYGFP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232800 chr2 20386386 20396588 + SLC7A15P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232801 chrX 40890647 40891537 - SDCBPP3 processed_pseudogene 31 25 31 5 11 9 10 12 13 ENSG00000232803 chr20 62663019 62666724 - SLCO4A1-AS1 antisense 100127888 1 4 2 5 0 0 3 0 4 ENSG00000232805 chr10 93106872 93107383 - NIP7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232806 chr21 41559125 41562958 - AP001610.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232807 chr10 5934270 5945900 - AL137186.2 antisense 70 70 76 111 150 135 98 75 80 ENSG00000232808 chrY 9329880 9334832 - TTTY20 antisense 252951 0 0 0 0 0 0 0 0 0 ENSG00000232809 chr1 215376484 215377374 + VDAC1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232810 chr6 31575567 31578336 + TNF protein_coding This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, psoriasis, rheumatoid arthritis ankylosing spondylitis, tuberculosis, autosomal dominant polycystic kidney disease, and cancer. Mutations in this gene affect susceptibility to cerebral malaria, septic shock, and Alzheimer disease. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Aug 2020]. 7124 GO:0055037, GO:0045121, GO:0009986, GO:0009986, GO:0009897, GO:0005887, GO:0005886, GO:0005615, GO:0005615, GO:0005576, GO:0001891, recycling endosome, membrane raft, cell surface, cell surface, external side of plasma membrane, integral component of plasma membrane, plasma membrane, extracellular space, extracellular space, extracellular region, phagocytic cup, GO:0042802, GO:0042802, GO:0005515, GO:0005164, GO:0005164, GO:0005164, GO:0005125, GO:0005125, GO:0002020, GO:0000976, identical protein binding, identical protein binding, protein binding, tumor necrosis factor receptor binding, tumor necrosis factor receptor binding, tumor necrosis factor receptor binding, cytokine activity, cytokine activity, protease binding, transcription regulatory region sequence-specific DNA binding, GO:2001240, GO:2001238, GO:2001234, GO:2000351, GO:2000343, GO:2000334, GO:2000304, GO:2000010, GO:1904999, GO:1904996, GO:1904707, GO:1903799, GO:1903721, GO:1903347, GO:1903140, GO:1903078, GO:1902895, GO:1902004, GO:1901671, GO:1901647, GO:1901224, GO:1900222, GO:1900017, GO:1900017, GO:0150129, GO:0150078, GO:0097527, GO:0097191, GO:0072659, GO:0072577, GO:0071803, GO:0071677, GO:0071550, GO:0071407, GO:0071316, GO:0071230, GO:0070886, GO:0070374, GO:0061048, GO:0061044, GO:0060693, GO:0060664, GO:0060559, GO:0060557, GO:0060252, GO:0060252, GO:0051966, GO:0051897, GO:0051798, GO:0051384, GO:0051222, GO:0051173, GO:0051092, GO:0051092, GO:0051092, GO:0051092, GO:0051091, GO:0051044, GO:0051000, GO:0050995, GO:0050901, GO:0050890, GO:0050830, GO:0050807, GO:0050806, GO:0050796, GO:0050768, GO:0050766, GO:0050729, GO:0048661, GO:0048566, GO:0048143, GO:0046427, GO:0046325, GO:0045994, GO:0045944, GO:0045944, GO:0045944, GO:0045944, GO:0045930, GO:0045893, GO:0045892, GO:0045860, GO:0045785, GO:0045732, GO:0045672, GO:0045668, GO:0045662, GO:0045599, GO:0045598, GO:0045429, GO:0045071, GO:0043537, GO:0043525, GO:0043507, GO:0043491, GO:0043406, GO:0043280, GO:0043243, GO:0043242, GO:0043154, GO:0043123, GO:0043123, GO:0043123, GO:0043123, GO:0043122, GO:0043068, GO:0043065, GO:0043065, GO:0042531, GO:0035509, GO:0034116, GO:0033209, GO:0033209, GO:0033209, GO:0033209, GO:0033138, GO:0033138, GO:0032757, GO:0032757, GO:0032757, GO:0032755, GO:0032755, GO:0032731, GO:0032729, GO:0032722, GO:0032715, GO:0032603, GO:0031663, GO:0031622, GO:0031334, GO:0031327, GO:0030866, GO:0030730, GO:0030316, GO:0030198, GO:0019221, GO:0014068, GO:0010888, GO:0010803, GO:0010693, GO:0010629, GO:0010629, GO:0010628, GO:0010628, GO:0010628, GO:0010628, GO:0010573, GO:0009651, GO:0009615, GO:0008630, GO:0008625, GO:0008625, GO:0008625, GO:0007254, GO:0007249, GO:0006959, GO:0006954, GO:0006919, GO:0006357, GO:0006006, GO:0002925, GO:0002876, GO:0002719, GO:0002637, GO:0002439, GO:0001937, GO:0001934, GO:0001819, GO:0001774, GO:0001774, GO:0000187, GO:0000185, GO:0000165, GO:0000122, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand, positive regulation of extrinsic apoptotic signaling pathway, negative regulation of apoptotic signaling pathway, regulation of endothelial cell apoptotic process, positive regulation of chemokine (C-X-C motif) ligand 2 production, positive regulation of blood microparticle formation, positive regulation of ceramide biosynthetic process, positive regulation of protein localization to cell surface, positive regulation of leukocyte adhesion to arterial endothelial cell, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of production of miRNAs involved in gene silencing by miRNA, positive regulation of I-kappaB phosphorylation, negative regulation of bicellular tight junction assembly, regulation of establishment of endothelial barrier, positive regulation of protein localization to plasma membrane, positive regulation of pri-miRNA transcription by RNA polymerase II, positive regulation of amyloid-beta formation, positive regulation of superoxide dismutase activity, positive regulation of synoviocyte proliferation, positive regulation of NIK/NF-kappaB signaling, negative regulation of amyloid-beta clearance, positive regulation of cytokine production involved in inflammatory response, positive regulation of cytokine production involved in inflammatory response, positive regulation of interleukin-33 production, positive regulation of neuroinflammatory response, necroptotic signaling pathway, extrinsic apoptotic signaling pathway, protein localization to plasma membrane, endothelial cell apoptotic process, positive regulation of podosome assembly, positive regulation of mononuclear cell migration, death-inducing signaling complex assembly, cellular response to organic cyclic compound, cellular response to nicotine, cellular response to amino acid stimulus, positive regulation of calcineurin-NFAT signaling cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of branching involved in lung morphogenesis, negative regulation of vascular wound healing, regulation of branching involved in salivary gland morphogenesis, epithelial cell proliferation involved in salivary gland morphogenesis, positive regulation of calcidiol 1-monooxygenase activity, positive regulation of vitamin D biosynthetic process, positive regulation of glial cell proliferation, positive regulation of glial cell proliferation, regulation of synaptic transmission, glutamatergic, positive regulation of protein kinase B signaling, positive regulation of hair follicle development, response to glucocorticoid, positive regulation of protein transport, positive regulation of nitrogen compound metabolic process, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, positive regulation of membrane protein ectodomain proteolysis, positive regulation of nitric-oxide synthase activity, negative regulation of lipid catabolic process, leukocyte tethering or rolling, cognition, defense response to Gram-positive bacterium, regulation of synapse organization, positive regulation of synaptic transmission, regulation of insulin secretion, negative regulation of neurogenesis, positive regulation of phagocytosis, positive regulation of inflammatory response, positive regulation of smooth muscle cell proliferation, embryonic digestive tract development, astrocyte activation, positive regulation of receptor signaling pathway via JAK-STAT, negative regulation of glucose import, positive regulation of translational initiation by iron, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of mitotic cell cycle, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, positive regulation of protein kinase activity, positive regulation of cell adhesion, positive regulation of protein catabolic process, positive regulation of osteoclast differentiation, negative regulation of osteoblast differentiation, negative regulation of myoblast differentiation, negative regulation of fat cell differentiation, regulation of fat cell differentiation, positive regulation of nitric oxide biosynthetic process, negative regulation of viral genome replication, negative regulation of blood vessel endothelial cell migration, positive regulation of neuron apoptotic process, positive regulation of JUN kinase activity, protein kinase B signaling, positive regulation of MAP kinase activity, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of protein-containing complex disassembly, negative regulation of protein-containing complex disassembly, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of programmed cell death, positive regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, negative regulation of myosin-light-chain-phosphatase activity, positive regulation of heterotypic cell-cell adhesion, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, positive regulation of peptidyl-serine phosphorylation, positive regulation of peptidyl-serine phosphorylation, positive regulation of interleukin-8 production, positive regulation of interleukin-8 production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, positive regulation of interferon-gamma production, positive regulation of chemokine production, negative regulation of interleukin-6 production, fractalkine production, lipopolysaccharide-mediated signaling pathway, positive regulation of fever generation, positive regulation of protein-containing complex assembly, negative regulation of cellular biosynthetic process, cortical actin cytoskeleton organization, sequestering of triglyceride, osteoclast differentiation, extracellular matrix organization, cytokine-mediated signaling pathway, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of lipid storage, regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of alkaline phosphatase activity, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, vascular endothelial growth factor production, response to salt stress, response to virus, intrinsic apoptotic signaling pathway in response to DNA damage, extrinsic apoptotic signaling pathway via death domain receptors, extrinsic apoptotic signaling pathway via death domain receptors, extrinsic apoptotic signaling pathway via death domain receptors, JNK cascade, I-kappaB kinase/NF-kappaB signaling, humoral immune response, inflammatory response, activation of cysteine-type endopeptidase activity involved in apoptotic process, regulation of transcription by RNA polymerase II, glucose metabolic process, positive regulation of humoral immune response mediated by circulating immunoglobulin, positive regulation of chronic inflammatory response to antigenic stimulus, negative regulation of cytokine production involved in immune response, regulation of immunoglobulin production, chronic inflammatory response to antigenic stimulus, negative regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, positive regulation of cytokine production, microglial cell activation, microglial cell activation, activation of MAPK activity, activation of MAPKKK activity, MAPK cascade, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000232811 chr1 110943467 110952848 + AL360270.1 antisense 100 91 144 133 197 149 148 77 87 ENSG00000232812 chr1 208728688 208733184 + LINC01717 lincRNA 105372893 0 0 0 0 0 0 0 0 0 ENSG00000232813 chrX 48274904 48275047 - AC245047.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232814 chr13 110502575 110508179 - COL4A2-AS1 antisense 100874203 3 3 0 0 0 0 0 0 4 ENSG00000232815 chr9 63817748 63818462 - DUX4L50 unprocessed_pseudogene 66 32 57 71 36 74 75 38 91 ENSG00000232817 chr7 63388808 63393657 - AC073188.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232818 chr7 23490473 23491364 + RPS2P32 processed_pseudogene 2 4 7 10 14 0 6 6 18 ENSG00000232821 chr7 19112474 19114271 + AC003986.2 antisense 0 0 0 1 0 0 0 0 0 ENSG00000232823 chr10 119683127 119683823 - TXNP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232824 chr1 198197779 198198186 - PRR13P1 processed_pseudogene 1 0 3 0 4 2 1 0 0 ENSG00000232825 chr1 99004276 99243009 + AL445433.2 antisense 100129620 0 0 0 0 0 0 0 0 0 ENSG00000232827 chr9 62515191 62522018 + LINC01189 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232828 chrX 48698963 48737163 - AC231533.1 antisense 9 19 8 3 4 0 8 6 0 ENSG00000232829 chr3 130827659 130828376 + GSTO3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232830 chr3 101414228 101414633 + AC110994.1 processed_pseudogene 1 0 0 3 0 0 0 0 0 ENSG00000232832 chr3 198038321 198039234 - LMLN-AS1 antisense 100873947 3 0 4 4 0 5 9 2 3 ENSG00000232834 chrX 27847588 27847939 - AC112492.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232835 chr2 5549780 5556031 - AC107057.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232837 chr21 38974429 38977774 - LINC01700 lincRNA 101928435 0 0 0 0 0 0 0 0 0 ENSG00000232838 chr20 18137873 18143169 + PET117 protein_coding 100303755 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0033617, mitochondrial cytochrome c oxidase assembly, 0 0 0 0 0 0 4 0 1 ENSG00000232841 chr7 17033089 17033478 - BRWD1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232842 chrX 95973328 95974315 - AL137845.2 processed_pseudogene 0 3 0 0 0 0 0 1 0 ENSG00000232843 chr9 92893698 92894505 - SNX18P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232845 chrY 23762838 23765583 - TRAPPC2P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232846 chr1 51709062 51709940 + SLC25A6P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232848 chr1 8057245 8058463 - AL034417.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232849 chr13 93056657 93057926 + LINC00363 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232850 chr9 128128529 128130628 + PTGES2-AS1 lincRNA 389791 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1 1 1 0 0 0 0 1 0 ENSG00000232851 chr9 77040416 77040673 + ATP5MFP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232852 chr20 64290187 64292998 - CICP4 processed_pseudogene 10 8 3 24 5 1 12 8 0 ENSG00000232853 chr10 21247752 21248095 + LUZP4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232855 chr21 28439346 28674848 - AF165147.1 lincRNA 0 1 3 14 0 6 6 3 2 ENSG00000232857 chr1 94650544 94651378 - KATNBL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232858 chr13 24988577 24988925 - RPL34P27 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000232859 chr17 27878314 27894752 - LYRM9 protein_coding 201229 41 29 44 29 39 43 33 33 17 ENSG00000232860 chr1 183460874 183472265 - SMG7-AS1 processed_transcript 3 6 5 7 2 4 7 2 3 ENSG00000232862 chr1 36080066 36084026 - AL138787.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 1 2 ENSG00000232864 chr1 227410617 227411319 - NUCKS1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232867 chr9 27210327 27210626 + AL355433.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232869 chr7 142740206 142740894 + TRBV29-1 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000232871 chr19 48638071 48682245 + SEC1P transcribed_unitary_pseudogene 653677 1 1 1 1 3 0 0 0 1 ENSG00000232872 chr13 51908218 51910621 - CTAGE3P processed_pseudogene 1 3 0 0 1 4 2 0 9 ENSG00000232873 chr3 194562978 194564001 - RPL23AP93 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232874 chr3 194130616 194131201 - AC080129.2 antisense 0 0 0 4 0 3 0 1 0 ENSG00000232875 chr10 96915633 96915902 - HMGN2P35 processed_pseudogene 0 1 0 1 0 0 0 0 0 ENSG00000232876 chr6 135055033 135060550 + AL353596.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000232878 chr1 97095923 97322955 + DPYD-AS1 antisense 100873932 72 59 88 34 42 49 32 41 50 ENSG00000232879 chr1 161034834 161035006 + AL591806.2 processed_pseudogene 0 0 2 0 0 0 0 3 1 ENSG00000232880 chr20 45388347 45388705 - NDUFB4P10 processed_pseudogene 0 0 0 2 0 4 0 0 2 ENSG00000232881 chr13 71913704 71914178 - RPS10P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232882 chr1 90892992 90893612 - PHKA1P1 processed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000232883 chr1 220316667 220317599 - AL451081.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232884 chr21 14746762 14753863 - AF127936.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232885 chr13 92339794 92340603 - GPC5-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232886 chr21 16862875 16873691 - AF212831.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232887 chr7 31119284 31119572 - AC006466.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232888 chr12 132825701 132826184 + RPS11P5 processed_pseudogene 1 2 2 1 6 2 1 0 8 ENSG00000232889 chr17 20595531 20595708 + AC087499.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232891 chr6 150600834 150605850 + AL450344.3 sense_intronic 0 0 0 0 1 4 0 0 2 ENSG00000232892 chr1 163161675 163213023 + AL499616.1 antisense 101928404 0 0 0 0 0 0 0 0 0 ENSG00000232893 chr2 236391074 236392388 + IQCA1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232894 chr13 19552571 19570288 - MRPS31P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232895 chr1 114206427 114262278 - AL121999.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232896 chr9 110599475 110605219 + AL592463.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232897 chr22 47662559 47663603 - AL117329.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232899 chrY 18182835 18184414 - CDY9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232900 chr20 10875333 10909272 - AL050403.1 lincRNA 101929413 0 0 0 0 0 0 0 0 0 ENSG00000232901 chr3 10000647 10000940 - CYCSP10 processed_pseudogene 4 1 4 4 2 0 4 3 2 ENSG00000232903 chr10 132943967 132965289 - LINC01166 lincRNA 101927590 0 0 0 0 0 0 0 0 0 ENSG00000232905 chr9 113850687 113851632 - AL162393.1 processed_pseudogene 1 0 1 1 0 0 0 0 0 ENSG00000232906 chr7 65355934 65357176 + AC092685.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232907 chr20 36507702 36573391 - DLGAP4-AS1 antisense 101926987 104 152 161 93 147 149 131 83 111 ENSG00000232908 chr1 247827486 247828502 + HSD17B7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232909 chr6 35733867 35736947 - AL157823.2 antisense 0 0 0 0 0 0 5 0 3 ENSG00000232910 chrY 23751188 23751760 + RAB9AP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232912 chr1 8424645 8434838 + AL096855.1 antisense 30 52 36 33 70 43 34 31 43 ENSG00000232913 chr10 94081950 94108814 - PLCE1-AS2 antisense 101927049 0 0 0 0 0 0 0 0 0 ENSG00000232914 chrY 25904518 25907250 + TRAPPC2P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232915 chr2 138412066 138413318 - AC097721.1 processed_pseudogene 0 2 0 0 0 0 1 0 0 ENSG00000232916 chr5 116218026 116218295 - HMGN2P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232917 chr1 203903723 203904013 - HSPE1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232918 chr1 94406395 94406882 - AC118469.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232920 chr9 37073531 37075792 - LINC01400 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232922 chr7 112373733 112374250 - MTND6P24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232924 chrY 9230915 9231247 + ELOCP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232925 chr20 59113224 59113631 + MRPS16P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232926 chr22 19887289 19887970 + AC000078.1 processed_pseudogene 0 2 1 7 5 5 4 2 12 ENSG00000232927 chrY 3682805 3683868 + USP12PY processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000232928 chrX 74121012 74131923 + DDX3P1 processed_pseudogene 0 1 1 0 0 0 3 0 5 ENSG00000232930 chr7 36029611 36055431 + AC083864.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232931 chr2 95807118 95816215 - LINC00342 lincRNA 26 30 42 71 5 89 78 14 42 ENSG00000232934 chr10 112395813 112425589 - AL157786.1 antisense 32 41 98 51 36 44 50 26 54 ENSG00000232935 chr10 127013501 127026475 - AL359094.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232936 chr10 89645282 89650667 + AL157400.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232937 chr1 151765709 151766389 + AL589765.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000232938 chr17 83226897 83240804 + RPL23AP87 transcribed_processed_pseudogene 388574 5 6 9 0 5 0 3 1 0 ENSG00000232939 chr9 109760360 109772043 - AL158829.1 antisense 107987013 0 0 0 0 0 0 0 0 0 ENSG00000232940 chr6 33249534 33254989 + HCG25 antisense 414765 0 0 0 0 0 0 0 0 0 ENSG00000232943 chr20 18220113 18220512 + AL050321.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232944 chr7 56408699 56409210 - AC092423.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232946 chr9 6675284 6675614 + AL354707.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232947 chr6 15994944 15999797 + LINC02543 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232948 chr8 12310962 12318316 - DEFB130A protein_coding Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]. 245940 GO:0005615, extracellular space, GO:0042056, GO:0031731, chemoattractant activity, CCR6 chemokine receptor binding, GO:0060326, GO:0050918, GO:0042742, cell chemotaxis, positive chemotaxis, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000232949 chr7 22589705 22591622 + AC002480.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232950 chr10 80297720 80299655 + ZNF519P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232951 chrX 51921864 51922499 - IPO7P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000232952 chr1 105891739 105893517 + AL512844.1 processed_pseudogene 1 5 8 0 3 1 1 1 0 ENSG00000232953 chr3 19940269 19943310 - HSPA8P18 processed_pseudogene 1 0 1 0 1 0 0 0 0 ENSG00000232954 chr13 58211697 58233117 - LINC00374 lincRNA 106144531 0 0 0 0 0 0 0 0 0 ENSG00000232956 chr7 44983023 44986961 - SNHG15 lincRNA This gene represents a snoRNA host gene that produces a short-lived long non-coding RNA. This non-coding RNA is upregulated in tumor cells and may contribute to cell proliferation by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]. 285958 53 51 48 199 78 179 123 62 169 ENSG00000232958 chr3 6208269 6208571 + AC027119.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232959 chr1 170024077 170024683 + AL356475.1 antisense 5 3 3 4 6 7 1 0 0 ENSG00000232963 chr2 24330402 24330674 + HMGN2P20 processed_pseudogene 0 1 0 0 0 6 0 0 0 ENSG00000232964 chr1 230592660 230595583 - LINC01737 lincRNA 101927553 0 0 0 0 0 0 0 0 0 ENSG00000232965 chr10 79544087 79544356 + RPS12P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232968 chr7 81463036 81463613 - EIF4EP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232969 chr21 44339376 44340470 + AP001062.2 antisense 1 0 0 0 0 0 1 1 0 ENSG00000232970 chr2 216156342 216156811 - POLHP1 processed_pseudogene 1 2 1 4 2 0 0 0 0 ENSG00000232971 chr1 108734256 108734725 - AL591719.2 antisense 0 0 0 0 0 0 1 0 0 ENSG00000232973 chr2 38073447 38231651 + CYP1B1-AS1 antisense 285154 15 34 51 24 50 42 18 19 14 ENSG00000232975 chr7 68097737 68098250 + MTCO1P57 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232976 chrY 24659337 24660406 + TRIM60P10Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232977 chr13 23466571 23487464 + LINC00327 lincRNA 100506697 0 0 0 1 0 0 0 0 0 ENSG00000232978 chr9 19291337 19292576 - AL161909.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000232979 chr2 7735645 7735783 - AC092580.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232981 chr9 80563571 80564630 - MTCO1P51 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232982 chr2 155263458 155263724 - MTCO1P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232983 chr9 34546524 34546996 - AL160270.2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000232985 chr10 128958772 128960062 - AL355537.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232986 chr13 33657436 33659928 + AL139081.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000232987 chr11 1991096 1993670 + LINC01219 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000232989 chr1 238268494 238268595 - AL356010.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232990 chr2 130276507 130277187 + MTATP6P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232991 chr2 107754112 107822129 + GACAT1 lincRNA 104326057 0 0 0 0 0 0 0 0 0 ENSG00000232992 chr2 138901433 138902747 - AHCYP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000232993 chr1 53069938 53085502 - AL445183.1 antisense 0 0 1 0 5 3 0 0 0 ENSG00000232994 chr2 203040108 203040899 + RPL7P14 processed_pseudogene 0 1 1 0 1 0 0 0 0 ENSG00000232995 chr1 163244505 163321894 - RGS5 antisense This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011]. 8490 GO:0005886, GO:0005737, plasma membrane, cytoplasm, GO:0005515, GO:0005096, GO:0003924, protein binding, GTPase activator activity, GTPase activity, GO:0043547, GO:0009968, GO:0008277, GO:0007186, positive regulation of GTPase activity, negative regulation of signal transduction, regulation of G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 3 3 0 6 1 1 0 ENSG00000232998 chr9 77176760 77178180 - VPS13A-AS1 antisense 1 4 8 3 0 5 3 0 0 ENSG00000232999 chr6 2910613 2912113 - AL133351.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233002 chr17 15735023 15749192 - AC005324.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233003 chr1 227975390 227978193 - CICP26 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233005 chr2 21221175 21970959 + AC018742.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233006 chr5 132311285 132369916 - MIR3936HG processed_transcript 553103 98 78 124 69 83 84 69 37 48 ENSG00000233007 chrX 38531923 38534174 - UBTFL11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233008 chr1 83575776 83861023 - LINC01725 lincRNA 101927587 0 0 0 7 0 4 0 0 0 ENSG00000233009 chr13 100708325 101059286 + NALCN-AS1 antisense 100885778 0 0 0 0 0 0 0 0 0 ENSG00000233010 chr22 29608900 29609501 + RPEP4 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000233011 chr10 50150603 50152287 + SLC9A3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233012 chr1 220625740 220628056 + HDAC1P2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233013 chr9 138217068 138253217 + FAM157B transcribed_unprocessed_pseudogene 765 453 743 615 473 829 483 182 471 ENSG00000233014 chr17 41323427 41329545 + TBC1D3P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233015 chr20 21742303 21743077 - SLC25A6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233016 chr9 136721366 136728184 - SNHG7 antisense 84973 GO:0005730, nucleolus, GO:0006396, RNA processing, 19 13 47 91 68 125 40 30 56 ENSG00000233017 chr20 62427827 62447621 + AL121832.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233018 chr1 235097187 235097412 - AL732292.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000233020 chr1 70530526 70531492 + AL354872.1 processed_pseudogene 3 0 0 0 0 0 0 1 0 ENSG00000233021 chr10 437561 441170 + AL669841.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233024 chr16 18358086 18379331 - AC126755.2 protein_coding 23 3 13 28 14 58 18 2 3 ENSG00000233025 chr7 103088664 103089610 - CRYZP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233026 chr3 12165299 12165642 - MTCO1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233028 chr7 56175634 56176412 + AC006970.2 processed_pseudogene 109 81 72 25 68 29 47 35 21 ENSG00000233029 chr1 121090289 121097655 - AC244453.2 antisense 136 146 133 49 101 70 88 78 98 ENSG00000233030 chr1 149785659 149793020 - AC243772.2 antisense 86 81 160 163 263 173 207 163 127 ENSG00000233031 chr2 203672175 203672423 - AC125238.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233033 chrX 41520036 41522336 + CASK-AS1 antisense 9 3 13 14 4 9 16 1 17 ENSG00000233036 chr21 30802242 30802427 - KRTAP8-2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233037 chr2 95542730 95543230 - AC009237.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233038 chr7 157854529 157863011 + AC011899.2 antisense 63 58 46 15 43 23 26 44 33 ENSG00000233039 chr2 155311697 155313427 + MTND5P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233040 chr1 197746751 197747451 - FAM204BP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233041 chr15 40351033 40356434 + PHGR1 protein_coding 644844 1 5 3 0 3 0 0 0 0 ENSG00000233044 chr6 157107727 157119706 - AL049820.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233045 chr2 138278574 138279210 + AC097523.1 processed_pseudogene 0 1 2 0 0 0 2 0 1 ENSG00000233047 chr1 105927624 106028277 - LINC01677 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233048 chr20 12865202 12952519 - LINC01722 lincRNA 101929486 0 0 0 0 0 0 0 0 0 ENSG00000233050 chr8 12064389 12071747 - DEFB130B protein_coding 100133267 GO:0005615, extracellular space, GO:0042056, GO:0031731, chemoattractant activity, CCR6 chemokine receptor binding, GO:0060326, GO:0050918, GO:0042742, cell chemotaxis, positive chemotaxis, defense response to bacterium, 0 0 0 0 0 0 0 0 0 ENSG00000233052 chr10 1361001 1361637 - AL513304.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000233055 chr9 101501643 101501885 - AL353621.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233056 chr21 42916803 42925646 - ERVH48-1 lincRNA Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has placenta specific expression. The protein encoded has the characteristics of a retroviral envelope protein but is truncated and lacks the transmembrane domain. The protein inhibits cell fusion by competing with syncytin-1 for binding to a cell receptor. [provided by RefSeq, May 2015]. 90625 GO:0005886, GO:0005615, plasma membrane, extracellular space, GO:0005515, protein binding, GO:0006949, syncytium formation, 2 7 1 0 2 19 2 9 2 ENSG00000233057 chr1 194188967 194190342 + EEF1A1P14 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000233058 chr3 194487454 194518279 + LINC00884 antisense 8 21 18 8 20 26 11 24 11 ENSG00000233060 chr2 70089721 70096100 + AC016700.3 lincRNA 0 1 1 0 2 0 4 2 0 ENSG00000233061 chr1 83979118 83984300 - TTLL7-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000233063 chrX 75884546 75885136 + SAR1AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233064 chr6 5851506 5870220 + AL136307.1 lincRNA 0 0 0 0 0 0 3 0 0 ENSG00000233067 chrX 22259797 23293146 - PTCHD1-AS lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233068 chr6 3831936 3894292 + AL391422.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233069 chr1 20732880 20733952 + AL663074.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000233070 chrY 2966844 3002626 - ZFY-AS1 antisense 107987337 5 3 12 4 4 2 5 10 1 ENSG00000233071 chrX 103206010 103206899 - RPSAP59 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233072 chr1 21003550 21003934 - RPS15AP6 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000233073 chr7 86784226 86786670 - AC005009.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233077 chr20 50310711 50321342 - LINC01271 lincRNA 101927586 286 307 361 224 321 194 306 194 251 ENSG00000233078 chr1 16006160 16006671 - AL355994.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233079 chr1 55868254 55950119 + LINC01755 lincRNA 105378738 0 0 0 0 0 0 0 0 0 ENSG00000233080 chr22 35119824 35231056 - LINC01399 transcribed_processed_pseudogene 104310353 0 0 0 0 0 0 0 0 0 ENSG00000233081 chr9 91426238 91427144 + AL353764.1 lincRNA 2 1 4 1 0 5 9 1 0 ENSG00000233082 chr7 1267353 1269267 + AC073094.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233083 chr2 52629743 52630078 + FTH1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233084 chr1 248936581 248937043 + RPL23AP25 processed_pseudogene 2 3 3 5 6 9 9 4 8 ENSG00000233085 chr6 169286534 169289216 - BX322234.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233086 chr9 79505804 79532342 - LNCARSR lincRNA 102723932 0 0 0 0 0 0 0 0 0 ENSG00000233087 chr2 131361111 131364142 - RAB6D protein_coding 150786 GO:0012505, GO:0005829, GO:0005794, GO:0005794, endomembrane system, cytosol, Golgi apparatus, Golgi apparatus, GO:0005525, GO:0003924, GTP binding, GTPase activity, GO:0042147, GO:0006891, GO:0006890, GO:0006886, retrograde transport, endosome to Golgi, intra-Golgi vesicle-mediated transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, intracellular protein transport, 1 1 1 2 0 1 1 1 0 ENSG00000233090 chr17 15792862 15793045 + AC015922.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233093 chrX 136639543 136642429 + LINC00892 processed_transcript 100128420 2 0 3 13 0 20 3 1 9 ENSG00000233096 chr3 40970541 40971578 - AC099541.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233098 chr17 20868433 21002276 + CCDC144NL-AS1 antisense 440416 209 162 222 101 105 138 88 87 70 ENSG00000233099 chr1 77346046 77349585 - AC095030.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233101 chr17 48549630 48606414 + HOXB-AS3 antisense 404266 0 0 1 0 1 4 3 0 0 ENSG00000233103 chrX 42047883 42054836 - AL133329.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233105 chr2 94964473 94964836 - AC103563.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233106 chr20 33272262 33272657 - RPL12P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233107 chr2 76106016 76107324 - SUCLA2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233108 chr7 7958183 7969903 - AC006042.2 antisense 9 3 17 2 6 3 10 2 1 ENSG00000233109 chr8 48913916 48914380 + AC013701.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233110 chr4 185587909 185594003 + AC093797.1 antisense 0 0 0 0 0 0 0 0 3 ENSG00000233111 chr9 37636688 37637293 - RAB1C processed_pseudogene 1 0 1 0 0 0 0 0 0 ENSG00000233114 chr1 46104950 46105175 + AL358075.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233115 chr8 8011782 8017011 - FAM90A11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233117 chr10 4201141 4243912 - LINC00702 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233118 chr1 40942251 40942515 - UBE2V1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233120 chrY 18116527 18117695 + USP9YP15 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233121 chr3 13926813 13927778 + VN1R20P unitary_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000233122 chr10 130106046 130108481 + CTAGE7P processed_pseudogene 0 0 0 9 0 2 12 1 0 ENSG00000233123 chr7 101562779 101569006 - LINC01007 lincRNA 100506527 0 0 0 0 0 0 0 0 0 ENSG00000233124 chr13 97172469 97179622 - LINC00456 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233125 chr1 92229018 92229435 - ACTBP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233126 chrY 23049247 23051195 + ZNF736P3Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233128 chr2 40746487 40767452 + LINC01794 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233129 chr1 93934479 93935244 - AL117351.1 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000233131 chr2 175184215 175184607 + AC096649.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233132 chr8 7264526 7267536 + FAM90A3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233133 chr3 17706058 17706233 - AC104451.1 unprocessed_pseudogene 0 0 0 1 1 0 0 1 4 ENSG00000233134 chr2 202617284 202617627 + MTND3P17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233135 chr10 125473686 125473932 - RPS27P18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233136 chr4 9215405 9217356 + USP17L11 protein_coding 100287178 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000233138 chr6 142748443 142753759 + AL023584.1 antisense 70 71 74 40 54 61 64 46 73 ENSG00000233139 chrX 48153868 48155941 - AC244636.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233143 chr2 217282739 217336120 + DIRC3-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233144 chr10 73381433 73383496 + AL512656.1 antisense 163 157 193 65 91 89 89 77 61 ENSG00000233145 chrX 140017268 140018037 + AL589987.2 lincRNA 728660 0 0 0 0 0 0 0 0 0 ENSG00000233146 chr20 33316869 33329969 + BPIFB5P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233148 chr9 35010703 35011285 + SYF2P2 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000233153 chr3 23195070 23202578 - UBE2E2-AS1 antisense 100505877 0 0 0 0 0 0 0 0 0 ENSG00000233154 chr1 116423724 116478842 - LINC01762 lincRNA 101929023 4 13 16 9 3 8 4 8 2 ENSG00000233155 chr2 74418122 74418442 - HMGA1P8 processed_pseudogene 1 0 0 0 0 0 1 0 0 ENSG00000233156 chrY 26011435 26012237 + HSFY8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233157 chr22 43759199 43759910 - Z97055.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233158 chr2 94912432 94912831 + RPS24P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233159 chr2 37194382 37194737 - AC007390.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233162 chrX 73474563 73474830 + MORF4L1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233163 chr10 69161530 69161906 - RPS12P17 processed_pseudogene 0 3 0 5 2 1 8 3 8 ENSG00000233167 chr7 14190795 14192157 + EEF1A1P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233170 chr8 37747338 37748004 - AC138356.2 processed_pseudogene 14 20 7 4 8 23 20 26 21 ENSG00000233173 chr7 63934449 63935331 - VN1R34P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233175 chr17 45238028 45241734 - AC008105.1 antisense 3625 3858 5005 1486 2311 2209 1822 1882 1763 ENSG00000233176 chr8 7592006 7592916 + OR7E157P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233178 chr9 68393881 68406500 - AL161457.2 antisense 11 17 6 11 17 9 29 10 1 ENSG00000233179 chr22 48448890 48451217 + Z82249.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233183 chr6 33893323 33927631 + AL138889.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233184 chr1 101025878 101087268 + AC093157.1 antisense 2 3 13 14 5 24 15 6 13 ENSG00000233186 chr9 4803788 4804972 - KLF4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233189 chr10 84389170 84389626 - RPL12P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233190 chr10 32231849 32232245 - RPS24P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233191 chr7 157513294 157518658 + AC006372.2 processed_transcript 3 12 0 1 6 9 5 2 4 ENSG00000233193 chr17 15761614 15763769 - AC005324.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233196 chr1 186580515 186581191 - AL096803.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233197 chr10 69523311 69523650 - TMEM256P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233198 chr9 137227271 137229638 + RNF224 protein_coding 643596 GO:0046872, metal ion binding, 0 0 1 0 0 0 3 0 0 ENSG00000233200 chr10 35219894 35230598 - AL117336.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000233203 chr1 54887563 54888850 + DHCR24-DT antisense 0 0 0 0 0 0 0 0 0 ENSG00000233204 chr2 165285253 165286048 + MAPRE1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233205 chr2 87972656 87973082 + AC108479.1 processed_pseudogene 2 0 2 0 0 1 1 0 0 ENSG00000233206 chr21 20430443 20430762 - RPS3AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233208 chr14 90455230 90458905 + LINC00642 lincRNA 400238 0 0 0 2 0 0 0 0 0 ENSG00000233211 chr13 88978447 88978785 - GRPEL2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233213 chr21 37717102 37719569 - KCNJ6-AS1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000233214 chr19 35424062 35424652 - AC002511.2 lincRNA 49 31 68 23 23 22 18 18 30 ENSG00000233215 chr21 22008944 22098459 - LINC01687 lincRNA 101927843 0 0 0 0 0 0 0 0 0 ENSG00000233216 chr1 58228682 58229003 - AL357373.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000233217 chr1 200917460 200966668 + MROH3P transcribed_unitary_pseudogene 2 3 1 1 2 0 0 1 0 ENSG00000233219 chr7 33868501 33874231 - AC008080.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233220 chr11 130002938 130004356 + LINC00167 lincRNA 2 1 0 8 24 12 4 6 17 ENSG00000233221 chr2 130830978 130836994 - AC133785.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233222 chr1 153750983 153752176 - AL513523.3 antisense 10 12 19 0 7 1 0 0 0 ENSG00000233223 chr17 7581964 7584072 - AC016876.1 antisense 100996842 36 42 31 239 304 405 143 326 251 ENSG00000233225 chr7 39833571 39834718 + AC004987.2 processed_pseudogene 3 5 5 19 15 13 4 6 9 ENSG00000233228 chr1 92066306 92067839 + LPCAT2BP unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233229 chrX 69937166 69938017 - CNOT7P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000233230 chr2 47905678 47907810 + AC079807.1 antisense 88 71 106 68 45 102 62 73 67 ENSG00000233231 chr6 166334568 166335471 + HNRNPA1P49 processed_pseudogene 27 36 48 19 61 71 26 33 44 ENSG00000233232 chr16 28456372 28471175 - NPIPB7 protein_coding 1 0 0 2 1 0 0 2 0 ENSG00000233234 chr1 2811850 2812692 - AL592464.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233235 chr1 89324522 89334880 + BX119321.1 unprocessed_pseudogene 0 0 0 1 0 4 0 0 0 ENSG00000233236 chr21 20256752 20258820 - LINC02573 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000233237 chr6 71344344 71420769 - LINC00472 lincRNA 79940 0 0 0 0 0 0 0 0 0 ENSG00000233238 chr8 6959289 6960161 - DEFA9P unprocessed_pseudogene 449492 0 0 0 0 0 0 0 0 0 ENSG00000233242 chr9 37112548 37115490 - AL512604.2 antisense 0 0 0 0 2 0 0 0 0 ENSG00000233243 chrX 27863893 27864349 + AC112492.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233246 chr1 33350352 33363245 + AL513327.2 antisense 101929464 0 1 1 3 2 5 0 1 0 ENSG00000233247 chrX 14244382 14244928 + AC002524.1 processed_pseudogene 5 2 3 3 3 9 7 8 6 ENSG00000233248 chr2 155313440 155313958 - MTND6P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233250 chrX 53432722 53433032 - AC233728.1 antisense 0 0 1 0 0 0 0 0 1 ENSG00000233251 chr2 56173534 56185770 - AC007743.1 antisense 100129434 0 0 0 0 0 0 0 1 0 ENSG00000233252 chr3 12673699 12673883 + CRIP1P1 processed_pseudogene 1 3 5 0 0 0 0 0 0 ENSG00000233254 chrX 75384346 75384828 + RPL21P134 processed_pseudogene 0 0 0 0 0 6 3 0 0 ENSG00000233256 chr10 13415202 13423133 + AL355870.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233258 chr10 83911654 83912922 - AL390786.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233259 chr13 42369259 42369657 - FABP3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233260 chrX 133762796 133763683 + RPSAP63 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233261 chr10 26589865 26594330 + FAM238A transcribed_unprocessed_pseudogene 645528 19 18 10 26 38 37 25 35 33 ENSG00000233262 chr9 84278219 84290131 + AL356134.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233263 chr7 131892616 131893615 - AC009518.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233264 chr7 7980312 7982228 + AC006042.3 processed_pseudogene 14 35 38 13 23 26 15 14 35 ENSG00000233266 chr2 54051334 54051760 + HMGB1P31 processed_pseudogene 4 1 6 3 2 17 4 1 0 ENSG00000233268 chr1 9660828 9662626 - AL691449.1 processed_pseudogene 4 1 0 3 0 0 5 0 0 ENSG00000233270 chr19 5576660 5576938 - SNRPEP4 processed_pseudogene 14 14 4 12 16 8 18 16 17 ENSG00000233271 chr1 54980950 54992274 - AL590440.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233272 chr7 121842368 121845131 - PNPT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233273 chr13 96573659 96574499 + AMMECR1LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233275 chr2 95434759 95435113 + AC009238.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233276 chr3 49357171 49358600 - GPX1 polymorphic_pseudogene The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants have been found for this gene. Pseudogenes of this locus have been identified on chromosomes X and 21. [provided by RefSeq, Aug 2017]. 2876 GO:0097413, GO:0005829, GO:0005829, GO:0005759, GO:0005739, GO:0005739, GO:0005737, Lewy body, cytosol, cytosol, mitochondrial matrix, mitochondrion, mitochondrion, cytoplasm, GO:0047066, GO:0017124, GO:0004602, GO:0004602, GO:0004601, phospholipid-hydroperoxide glutathione peroxidase activity, SH3 domain binding, glutathione peroxidase activity, glutathione peroxidase activity, peroxidase activity, GO:1902905, GO:1902176, GO:1902042, GO:0098869, GO:0090201, GO:0061136, GO:0060055, GO:0060047, GO:0051897, GO:0051702, GO:0051450, GO:0048741, GO:0045454, GO:0045444, GO:0043534, GO:0043403, GO:0043154, GO:0042744, GO:0042744, GO:0042542, GO:0042542, GO:0042311, GO:0040029, GO:0034599, GO:0034599, GO:0033599, GO:0033194, GO:0019372, GO:0019372, GO:0019369, GO:0018158, GO:0010332, GO:0010269, GO:0010269, GO:0009650, GO:0009609, GO:0009410, GO:0007605, GO:0006749, GO:0006749, GO:0006641, GO:0006195, GO:0002862, GO:0001885, GO:0001659, positive regulation of supramolecular fiber organization, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, negative regulation of extrinsic apoptotic signaling pathway via death domain receptors, cellular oxidant detoxification, negative regulation of release of cytochrome c from mitochondria, regulation of proteasomal protein catabolic process, angiogenesis involved in wound healing, heart contraction, positive regulation of protein kinase B signaling, biological process involved in interaction with symbiont, myoblast proliferation, skeletal muscle fiber development, cell redox homeostasis, fat cell differentiation, blood vessel endothelial cell migration, skeletal muscle tissue regeneration, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, response to hydrogen peroxide, response to hydrogen peroxide, vasodilation, regulation of gene expression, epigenetic, cellular response to oxidative stress, cellular response to oxidative stress, regulation of mammary gland epithelial cell proliferation, response to hydroperoxide, lipoxygenase pathway, lipoxygenase pathway, arachidonic acid metabolic process, protein oxidation, response to gamma radiation, response to selenium ion, response to selenium ion, UV protection, response to symbiotic bacterium, response to xenobiotic stimulus, sensory perception of sound, glutathione metabolic process, glutathione metabolic process, triglyceride metabolic process, purine nucleotide catabolic process, negative regulation of inflammatory response to antigenic stimulus, endothelial cell development, temperature homeostasis, 336 760 676 166 516 255 149 446 206 ENSG00000233277 chr20 43894720 43895468 + LINC01728 lincRNA 105372626 0 0 0 0 0 0 0 0 0 ENSG00000233278 chr9 30831878 30832225 - RPS26P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233285 chr2 131369062 131369711 - MTCYBP10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233286 chr2 120212935 120213275 + MTND3P10 processed_pseudogene 0 1 0 4 0 0 0 0 0 ENSG00000233287 chr7 131242590 131242995 + AC009362.1 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000233288 chr7 56534230 56538130 - AC092447.5 lincRNA 101928401 0 0 0 0 0 0 0 0 0 ENSG00000233290 chr1 82212413 82848205 - AL157944.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233291 chr13 97901653 97902288 + RPL7AP61 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233292 chr10 89139044 89139458 + AL513533.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000233293 chr20 32561093 32573888 + AL133343.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233295 chr8 7295014 7298024 + FAM90A20P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233296 chr2 677186 697371 + AC092159.2 antisense 4 4 9 18 0 4 9 1 9 ENSG00000233297 chr7 102681836 102690469 - RASA4DP unprocessed_pseudogene 1 4 0 3 6 4 9 4 2 ENSG00000233299 chr2 223398267 223398546 - HIGD1AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233300 chr21 27367014 27367947 - EIF4A1P1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000233301 chr11 55537002 55537924 + OR4C14P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233303 chr3 195094588 195096057 + XXYLT1-AS1 antisense 100874528 0 0 0 0 0 0 0 0 0 ENSG00000233304 chr1 3940565 3955262 + LINC01346 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233306 chr7 38362864 38363518 - TRGV2 TR_V_gene 2 1 4 10 7 24 2 10 17 ENSG00000233307 chr2 109732731 109733136 + AC011753.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233308 chr3 191213291 191234605 - OSTN-AS1 antisense 106480738 0 0 0 0 1 0 0 0 0 ENSG00000233309 chr9 82744067 82744792 - RPS6P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233311 chr2 202619185 202619896 - MTCO1P54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233313 chr10 75276376 75276646 - HMGA1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233316 chr21 38206156 38208644 + DSCR10 sense_intronic 259234 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 2 0 0 0 0 0 0 ENSG00000233318 chr10 22266991 22267346 + RPL31P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233319 chr10 130131770 130132241 - PPIAP32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233321 chr10 3486894 3502838 - AL357833.1 lincRNA 101927880 0 0 0 0 0 0 0 2 0 ENSG00000233324 chr20 18782424 18783690 - EEF1A1P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233325 chr13 21298139 21306373 + MIPEPP3 transcribed_unprocessed_pseudogene 0 0 0 0 3 10 1 0 1 ENSG00000233327 chr17 18511262 18525930 - USP32P2 transcribed_unprocessed_pseudogene 3 2 3 5 3 0 16 1 0 ENSG00000233328 chr1 171670517 171670939 - PFN1P1 processed_pseudogene 10 7 18 6 7 5 6 7 9 ENSG00000233329 chr2 141208082 141208376 - AC068287.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233330 chr6 149591755 149592663 - AL078581.1 antisense 6 3 5 0 1 2 5 1 2 ENSG00000233332 chr1 234212606 234215088 - AL122008.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233333 chr1 78170481 78171237 - RNFT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233334 chr10 124703625 124714217 + FAM53B-AS1 antisense 4 4 12 26 34 52 18 35 41 ENSG00000233335 chr2 46256860 46257177 - AC016696.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233336 chr1 13146981 13147460 - AC245056.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233337 chr1 111437514 111438037 + UBE2FP3 processed_pseudogene 1 0 1 0 1 0 3 0 0 ENSG00000233338 chrX 12902817 12908333 - TLR8-AS1 antisense 6 16 10 2 1 0 0 1 0 ENSG00000233339 chr2 106179542 106183797 + AC018878.1 antisense 0 0 0 0 2 0 0 0 0 ENSG00000233340 chr10 112671812 112677819 - AL139120.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000233342 chr6 160926369 160927162 + AL391361.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233343 chr10 35158306 35158640 + ATP6V1G1P4 processed_pseudogene 2 5 5 4 3 0 3 1 4 ENSG00000233347 chr20 52110344 52111049 - ERP29P1 processed_pseudogene 2 0 0 1 0 0 0 0 0 ENSG00000233349 chr13 84562364 84563236 + LINC00333 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233351 chr6 129479615 129481410 - AL356124.2 antisense 2 1 3 0 2 0 1 0 0 ENSG00000233352 chr20 45229817 45230191 + AL035660.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233353 chr10 80716483 80717068 - RPS7P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233354 chr20 31485778 31487574 + LINC00028 lincRNA 140875 0 0 0 0 0 0 0 0 0 ENSG00000233355 chr1 239703381 239730465 - CHRM3-AS2 antisense 100506915 41 33 28 170 21 57 136 32 24 ENSG00000233357 chrX 13574746 13575066 + RPL30P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233358 chr6 22744395 23031780 - AL035401.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233359 chr1 102199739 102389630 - AC114485.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233360 chr22 37641832 37658377 - Z83844.2 antisense 101927051 323 440 526 267 395 347 314 352 315 ENSG00000233363 chr7 154092201 154096043 - AC006019.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233365 chr6 166236969 166256947 + AL121956.1 lincRNA 101929297 0 0 0 0 0 0 0 0 0 ENSG00000233366 chr6 28888832 28889906 - ZNF90P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233367 chr9 6415145 6449558 - AL133480.1 antisense 0 0 0 0 2 0 0 0 1 ENSG00000233369 chr7 73154938 73207283 + GTF2IP4 transcribed_processed_pseudogene 100093631 1067 851 767 675 977 501 752 598 381 ENSG00000233370 chr2 110184054 110185179 + AC140479.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233372 chr1 30140263 30141607 + AL137076.1 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000233376 chr20 44389624 44391537 - AL117382.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233377 chr10 94940253 94941121 - MTND4P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233378 chrY 17984349 17993260 + USP9YP34 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233379 chr13 77939162 77944874 - AL139002.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233380 chr17 53756989 53757870 - RPS2P48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233381 chr12 31615771 31616439 - AK4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233382 chrX 120120953 120245267 - NKAPP1 transcribed_processed_pseudogene 158801 4 3 0 6 3 18 8 4 9 ENSG00000233383 chr7 67089257 67089470 - AC073089.1 processed_pseudogene 0 2 3 4 2 0 1 4 0 ENSG00000233384 chr1 224611404 224616220 - AC096537.1 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000233385 chr7 64106065 64106819 - MTCO3P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233387 chr10 33096257 33116672 - AL121748.1 lincRNA 1 1 1 8 2 7 11 2 3 ENSG00000233388 chr22 35501861 35503586 - AL022334.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233392 chr2 240954617 240967451 - AC104809.2 processed_transcript 200772 6 5 5 26 16 1 15 7 6 ENSG00000233393 chr21 36104881 36109690 + AP000688.2 lincRNA 105369306 0 0 0 4 0 0 0 0 0 ENSG00000233395 chr10 43939003 43944466 + LINC00841 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233396 chr1 146052566 146061948 + LINC01719 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000233397 chr2 162092232 162095032 + AC008063.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233399 chr1 30013952 30037612 - LINC01648 lincRNA 101929406 0 0 0 0 0 0 0 0 0 ENSG00000233401 chr1 92125301 92126462 + PRKAR1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233402 chr20 6200989 6202191 - TARDBPP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233403 chrX 25878339 25893544 + AC121342.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233405 chr13 21234568 21235204 + LINC01046 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233406 chr1 51250603 51251472 - AL162430.1 processed_pseudogene 7 14 11 5 13 15 9 10 1 ENSG00000233407 chr1 50206084 50223127 - AL592182.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233408 chr22 15557577 15560694 - AP000534.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233409 chr10 125972188 125973126 - FANK1-AS1 antisense 101410540 0 0 0 0 0 0 0 0 0 ENSG00000233410 chr1 199006040 199021037 - LINC01222 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233411 chr1 167457383 167458661 - AL359962.1 sense_intronic 5 0 2 0 0 0 0 0 0 ENSG00000233412 chr3 98166696 98169774 + OR5H15 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403274 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000233415 chr20 40031585 40043889 + AL133419.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233416 chr2 20606280 20606654 - AC012065.2 processed_pseudogene 2 0 2 2 1 1 0 4 1 ENSG00000233417 chr7 120141016 120142996 - AC004872.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233419 chr1 25125053 25125454 - AL121994.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000233420 chr7 88710631 88756725 + AC002127.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233421 chr1 16533886 16536172 - LINC01783 lincRNA 100132147 GO:0030533, triplet codon-amino acid adaptor activity, GO:0006412, translation, 0 0 0 0 0 0 0 0 0 ENSG00000233423 chr7 67691058 67697029 - AC005482.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233424 chr9 42707800 42714539 + BX664718.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233425 chr9 122837557 122838820 + KRT18P67 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233426 chr2 58251440 58252525 + EIF3FP3 processed_pseudogene 14 9 19 33 15 40 47 23 31 ENSG00000233427 chr1 28870483 28877336 - AL009181.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000233428 chr2 129496297 129496788 + PPIAP65 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233429 chr7 27095647 27100265 + HOTAIRM1 antisense 130 82 116 33 52 29 30 42 72 ENSG00000233430 chr1 143811359 143825837 - AC239798.1 unprocessed_pseudogene 1 0 0 0 0 1 3 0 0 ENSG00000233431 chr1 21586472 21591187 + LINC02596 antisense 55 31 38 84 80 72 88 51 43 ENSG00000233432 chr1 121502344 121503891 + AL592494.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233433 chrX 121024964 121026563 - AC006144.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233435 chr10 133640789 133642894 + AGGF1P2 processed_pseudogene 0 0 0 0 0 0 11 2 0 ENSG00000233436 chr11 57743514 57751781 - BTBD18 protein_coding 643376 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, GO:1990511, GO:1990511, GO:0032968, GO:0032968, GO:0030154, GO:0010529, GO:0010529, GO:0007283, GO:0007141, piRNA biosynthetic process, piRNA biosynthetic process, positive regulation of transcription elongation from RNA polymerase II promoter, positive regulation of transcription elongation from RNA polymerase II promoter, cell differentiation, negative regulation of transposition, negative regulation of transposition, spermatogenesis, male meiosis I, 1 1 1 0 0 0 0 0 0 ENSG00000233437 chr7 56875385 56882146 - AC118758.1 transcribed_unprocessed_pseudogene 100130849 0 0 0 0 0 0 0 0 0 ENSG00000233440 chr13 23134174 23134564 + HMGA1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233441 chr3 183895900 183910936 - CYP2AB1P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233442 chr21 14007134 14014880 + PPP6R2P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233444 chr2 81666477 81666728 - AC013262.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233445 chr2 233721522 233722065 - RPL17P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233446 chrX 81600072 81601306 + AL691517.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233447 chr2 94974544 94974838 - AC103563.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233448 chr7 77039944 77043776 + PMS2P9 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233449 chr1 106802755 106803427 - MTATP6P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233451 chr10 22361172 22413067 + AL513128.1 sense_overlapping 0 0 3 0 0 0 3 0 0 ENSG00000233452 chr6 146841901 147204614 - STXBP5-AS1 antisense 145 137 174 34 70 76 86 76 97 ENSG00000233454 chr7 63057453 63060084 + AC069285.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233455 chr1 210303684 210304540 + AL035414.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233456 chr13 48570639 48573317 - LINC01077 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233457 chr9 78150532 78151193 - AL353705.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233459 chr2 203634577 203636016 - AC125238.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233460 chr13 71845981 71846317 + RPL35AP31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233461 chr1 231522388 231528556 - AL445524.1 antisense 108 99 120 27 70 78 57 61 75 ENSG00000233464 chr6 152545930 152546984 + NANOGP11 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233467 chrX 148198014 148198878 - U40455.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233469 chr13 19818121 19818619 - ST6GALNAC4P1 processed_pseudogene 3 0 2 8 1 1 9 5 18 ENSG00000233470 chr6 50514035 50521104 + AL360175.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233471 chr22 19257520 19258806 + KRT18P62 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000233472 chr10 27999788 28049615 + AL390866.1 lincRNA 0 0 0 0 1 0 0 1 3 ENSG00000233473 chr1 159081133 159081795 - RAD1P2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000233476 chr7 22510616 22511999 - EEF1A1P6 processed_pseudogene 17 15 26 47 35 61 59 24 44 ENSG00000233477 chr10 105685383 105685865 - PPIAP38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233478 chr1 25644544 25659111 - AL031280.1 antisense 1 1 0 0 1 0 4 0 1 ENSG00000233479 chr2 113669166 113673191 + AC017074.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233480 chr21 19893279 19899755 - LINC01683 lincRNA 105372746 0 0 0 0 0 0 0 0 0 ENSG00000233482 chr1 94145111 94145619 + AC093579.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233483 chr17 45245186 45251129 - AC008105.2 transcribed_unitary_pseudogene 855 902 1156 433 681 731 546 538 558 ENSG00000233484 chrX 84403898 84404024 - AL450471.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233485 chr1 15326680 15343876 - AL031283.2 antisense 101927417 0 0 0 0 0 0 0 1 0 ENSG00000233487 chr3 196983890 196987558 - RPSAP69 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233489 chr7 153449429 153449875 + PAXBP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233491 chr7 81489204 81691406 - AC008163.1 transcribed_unitary_pseudogene 100128317 0 0 0 1 0 0 0 1 0 ENSG00000233492 chr20 21530202 21530744 + AL133325.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233493 chr19 55379245 55384598 - TMEM238 protein_coding 388564 GO:0016021, integral component of membrane, 3 3 6 19 2 8 10 3 5 ENSG00000233494 chr2 107902997 107903134 - AC009963.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233496 chr6 158001107 158002383 + SYNJ2-IT1 sense_intronic 100874300 0 0 0 0 0 0 0 0 0 ENSG00000233497 chr11 110788026 110788976 - HNRNPA1P60 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000233499 chr11 58365836 58366763 - OR5B1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233502 chr2 10083781 10086101 + AC104794.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233503 chr6 7481094 7482594 - HNRNPLP1 processed_pseudogene 0 0 0 1 1 0 0 0 1 ENSG00000233508 chr20 43190101 43202599 + AL021395.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233509 chr3 44617128 44624797 - ZNF197-AS1 antisense 100874094 0 0 0 0 0 0 0 0 0 ENSG00000233511 chr6 108252214 108252400 + Z98742.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233514 chr1 44122153 44122512 - AL356653.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233515 chr10 42674197 42691723 - LINC01518 lincRNA 101929397 0 0 0 0 0 0 0 0 0 ENSG00000233516 chr9 117462294 117466260 - AL445644.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233517 chr7 28987028 28988899 + AC005162.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233518 chr10 110550115 110550854 - RPL7P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233519 chr1 240400671 240401123 - AL590490.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233521 chr22 27221349 27224727 - LINC01638 lincRNA 105372978 0 0 0 0 0 0 0 0 0 ENSG00000233522 chrY 18326253 18353210 + FAM224A lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233523 chr7 73187969 73188736 - PHBP5 processed_pseudogene 4 3 7 0 4 0 6 2 2 ENSG00000233524 chr13 20747035 20748057 - RANP8 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000233526 chr9 77072100 77073295 + RFC5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233527 chr19 36573070 36594708 + ZNF529-AS1 antisense 101927599 11 5 11 7 5 21 6 6 7 ENSG00000233528 chr13 86909586 86937108 + LINC00430 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233529 chr6 30945979 30954862 - HCG21 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233531 chr8 6968141 6969113 - DEFA10P unprocessed_pseudogene 449493 0 0 0 0 0 0 0 0 0 ENSG00000233532 chr13 106374477 106384315 + LINC00460 lincRNA 728192 0 0 0 0 0 0 0 0 0 ENSG00000233533 chr10 36944111 36944738 - MKNK2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233534 chr6 135628789 135634681 - AL035604.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233535 chrX 13955393 13963904 + AC003035.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233536 chr11 94638038 94640833 + AP000943.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233537 chr1 182441577 182442362 + TEDDM2P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233538 chr2 231452195 231453153 + AC017104.3 lincRNA 0 0 0 1 5 6 0 1 2 ENSG00000233539 chr7 46673785 46759851 - AC011294.1 lincRNA 730338 0 0 0 0 0 0 0 0 0 ENSG00000233540 chr1 171864187 171864687 + DNM3-IT1 sense_intronic 100874284 0 0 0 0 0 0 0 0 0 ENSG00000233541 chr11 123051161 123051401 + RPL31P47 processed_pseudogene 0 0 0 1 7 14 4 2 0 ENSG00000233542 chr1 2013213 2015530 - AL391845.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233543 chrX 44633692 44635232 + CHTF8P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000233544 chr3 24555834 24556459 + EIF3KP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233545 chr13 24400703 24401029 + CYCSP33 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000233546 chrY 18529358 18529623 + PRYP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233547 chr10 112950646 112951875 - AL158212.2 antisense 54 35 68 16 22 31 47 36 43 ENSG00000233548 chrX 145176582 145176894 + CYCSP44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233549 chr13 98629686 98629989 - CYCSP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233550 chr2 130282679 130283329 + MTCYBP8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233551 chr9 16775573 16775845 - LSM1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233553 chr2 1341044 1346568 - AC108462.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233554 chr9 33166975 33179983 + B4GALT1-AS1 antisense 206 258 326 34 75 65 64 69 57 ENSG00000233555 chr9 63581254 63581834 - AL591438.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233557 chr1 98077000 98077468 + NFU1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233558 chr6 116258493 116259115 - AL050331.1 processed_pseudogene 0 1 0 3 0 0 2 1 0 ENSG00000233559 chr7 130853720 130928649 + LINC00513 lincRNA 14 15 17 10 19 51 28 14 15 ENSG00000233560 chr12 68705634 68707066 + KRT8P39 processed_pseudogene 2 7 3 8 7 8 10 2 3 ENSG00000233562 chr1 183266602 183267285 + AL356981.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233563 chr11 5873960 5874892 + OR52E7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233565 chr3 186922286 186922753 - AC007690.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233569 chr9 117648606 117657027 + AL161630.1 lincRNA 101928797 1 0 0 1 0 4 0 0 0 ENSG00000233570 chr3 16536320 16541373 + LINC00690 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233571 chrX 34206725 34415537 - AL592043.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233574 chr22 27276240 27286349 + AL020994.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233575 chr9 1328664 1328987 + AL358934.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233576 chr3 184076779 184084219 + AC131235.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233577 chr22 25279529 25282674 - AL022332.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233578 chr20 5548840 5549481 + EIF4EP1 processed_pseudogene 79 68 72 51 95 81 64 62 88 ENSG00000233579 chr2 202840331 202841781 - KRT8P15 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000233581 chr2 216303325 216321737 + AC069155.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233583 chr1 185262286 185264356 - AL356273.1 processed_pseudogene 2 0 0 1 2 3 2 3 0 ENSG00000233585 chrX 48775644 48776970 - AC231533.2 transcribed_processed_pseudogene 1 1 1 1 4 7 3 0 1 ENSG00000233586 chr1 144418678 144419190 + AC246785.2 processed_pseudogene 2 0 2 2 0 0 0 0 0 ENSG00000233587 chr2 22536479 22538288 + LINC01884 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233588 chr13 28722386 28724021 - CYP51A1P2 processed_pseudogene 2 2 2 2 3 1 1 2 10 ENSG00000233589 chr1 68479129 68483539 + AL138789.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233590 chr10 68233251 68242379 - AC016395.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233593 chr1 90782983 90851657 - AL590094.1 processed_transcript 105378853 0 0 0 0 0 0 0 0 0 ENSG00000233594 chr2 55435156 55435622 - BTF3P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233595 chr1 50017092 50017503 + MTND2P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233597 chr3 142043623 142044198 - AC133435.1 processed_pseudogene 0 0 0 0 1 0 1 0 0 ENSG00000233601 chr7 57599794 57610104 + NCOR1P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233602 chr1 44243408 44244273 - ERI3-IT1 sense_intronic 100874278 1 0 0 9 2 0 0 0 0 ENSG00000233603 chr22 40798039 40798285 + JTBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233605 chr2 77915934 77918011 + LINC01851 lincRNA 101927926 0 0 0 0 0 0 0 0 0 ENSG00000233606 chr12 55385837 55392964 + OR6C66P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233607 chr7 115061537 115231355 - LINC01392 lincRNA 104355291 0 0 0 0 0 0 0 0 0 ENSG00000233608 chr2 238848032 238910543 + TWIST2 protein_coding The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]. 117581 GO:0005737, GO:0005730, GO:0005654, GO:0005634, GO:0000785, cytoplasm, nucleolus, nucleoplasm, nucleus, chromatin, GO:0046983, GO:0005515, GO:0000981, GO:0000977, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0045892, GO:0045668, GO:0043066, GO:0032502, GO:0030335, GO:0030154, GO:0007275, GO:0006357, negative regulation of transcription, DNA-templated, negative regulation of osteoblast differentiation, negative regulation of apoptotic process, developmental process, positive regulation of cell migration, cell differentiation, multicellular organism development, regulation of transcription by RNA polymerase II, 0 3 0 0 5 0 0 4 0 ENSG00000233609 chr8 8961200 8979025 + RPL10P19 transcribed_processed_pseudogene 1 1 4 8 0 15 5 0 1 ENSG00000233610 chr13 48576974 48578088 - LINC00462 lincRNA 100129597 0 4 1 0 0 0 0 0 0 ENSG00000233611 chr2 236167447 236294927 + AC019068.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233613 chr13 113468901 113476135 + DCUN1D2-AS antisense 1 11 6 0 2 9 4 1 5 ENSG00000233614 chr16 11555 14090 + DDX11L10 transcribed_unprocessed_pseudogene 100287029 0 3 0 0 3 0 0 0 2 ENSG00000233615 chr1 240919653 240920609 + HNRNPA1P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233616 chr9 122400970 122402906 - AL359636.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233619 chrY 25487284 25487662 - AC006328.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233620 chr1 216072465 216086917 + AC093581.1 antisense 102723833 0 0 0 0 0 0 0 0 0 ENSG00000233621 chr1 37454879 37474411 - LINC01137 antisense 728431 7 5 14 8 8 2 5 0 8 ENSG00000233622 chr19 40808474 40812100 - CYP2T1P transcribed_unitary_pseudogene 171523 49 60 39 71 135 118 103 97 88 ENSG00000233623 chr1 10058671 10059648 + PGAM1P11 processed_pseudogene 6 4 4 3 6 6 6 1 0 ENSG00000233625 chr20 17887363 17888160 - AL035045.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233626 chr1 211936249 211936634 + AC092814.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233627 chr6 31999976 32003521 - C4A-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233632 chr22 33137140 33137338 + Z82198.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233633 chr2 558204 578145 + AC093326.1 lincRNA 105373352 0 0 0 0 0 0 0 0 0 ENSG00000233634 chrY 6837707 6838252 + GOT2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233635 chr17 63193930 63339053 - AC015923.1 antisense 7 9 13 1 2 8 1 6 6 ENSG00000233639 chr2 104807572 104853183 - PANTR1 processed_transcript 100506421 0 0 0 0 0 0 0 0 0 ENSG00000233640 chr21 30436466 30436964 - KRTAP13-5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233642 chr10 25158072 25176276 - GPR158-AS1 antisense 100128811 0 0 0 0 0 0 2 0 0 ENSG00000233643 chr10 61781745 61821246 - AC022398.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233644 chr13 111122652 111144264 + ARHGEF7-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000233645 chr1 8218190 8220529 - AL358876.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233646 chr11 5566678 5567616 - OR52T1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233647 chr1 46665910 46666375 - NENFP1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000233648 chr2 108694750 108694893 - AC010095.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233651 chr9 62387171 62394004 - AL590399.5 lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000233652 chrY 25388992 25391811 + CICP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233653 chr1 487101 489906 + CICP7 processed_pseudogene 2 4 2 0 3 2 1 3 2 ENSG00000233654 chr2 190534855 190568102 + AC108047.1 antisense 105376748 0 0 0 5 0 5 0 0 0 ENSG00000233655 chr14 105913222 105913237 - IGHD4-4 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000233656 chr6 11417350 11481239 + AL445430.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233659 chr9 35874810 35875194 - NDUFA5P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233661 chrX 63349646 63352178 + SPIN4-AS1 antisense 0 0 1 1 1 3 0 2 0 ENSG00000233662 chr13 98640814 98641239 - CALM2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233663 chrX 35710911 35711942 + AL161722.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233664 chr1 52709122 52709442 + NDUFS5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233665 chr10 48976554 48993046 - AC060234.2 processed_transcript 67 130 130 43 154 109 81 127 86 ENSG00000233668 chr9 34223984 34224628 - AL353662.2 processed_pseudogene 2 12 6 14 23 29 18 15 21 ENSG00000233670 chr17 10822475 10838445 - PIRT protein_coding 644139 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:1902936, GO:0044325, GO:0005547, phosphatidylinositol bisphosphate binding, ion channel binding, phosphatidylinositol-3,4,5-trisphosphate binding, GO:2001259, GO:0048266, GO:0048015, GO:0009408, positive regulation of cation channel activity, behavioral response to pain, phosphatidylinositol-mediated signaling, response to heat, 0 0 0 0 0 0 0 0 0 ENSG00000233671 chr2 87221113 87222488 - AC083899.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233672 chr13 50862172 50910764 - RNASEH2B-AS1 antisense 3 8 2 7 5 0 2 4 0 ENSG00000233673 chr2 86861825 86912978 + ANAPC1P1 transcribed_unprocessed_pseudogene 100286979 1 3 10 14 10 29 10 3 28 ENSG00000233674 chr1 43743471 43743741 + AL451062.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233676 chr21 20388334 20388845 + FDPSP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233677 chr6 29906543 29906909 + DDX39BP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233680 chrX 100887636 100888590 - HNRNPA1P27 processed_pseudogene 0 0 1 0 0 0 4 0 0 ENSG00000233681 chr19 42620212 42633034 - CEACAMP1 unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000233682 chr6 159165899 159170007 - AL356417.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233683 chr7 101388868 101389080 - AC004965.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233684 chr2 317912 342118 + LINC01865 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233685 chr10 133575122 133576031 - OR6L1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233686 chr20 59460619 59460837 - PIEZO1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233688 chrX 154919578 154920182 - BX842559.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233689 chr7 69040152 69046803 + AC104688.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233690 chr10 99697407 99697949 - EBAG9P1 processed_pseudogene 1 3 4 8 6 28 11 4 1 ENSG00000233691 chr1 160935537 160936126 + AL354714.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233693 chr1 164769116 164774641 - AL357568.1 antisense 100505795 0 0 0 0 0 0 0 0 0 ENSG00000233694 chr2 64606975 64616482 + LINC02579 lincRNA 339807 0 0 0 0 6 0 0 1 0 ENSG00000233695 chr13 113815630 113845744 + GAS6-AS1 antisense 17 10 6 61 1 14 46 7 4 ENSG00000233699 chrY 8683370 8683878 - TTTY18 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233701 chr3 139042102 139044892 - PRR23C protein_coding 389152 0 0 0 0 0 0 0 0 0 ENSG00000233702 chr2 62507545 62507823 - AC107083.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233703 chr10 80749632 80751231 - AC027673.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233705 chr7 107653968 107662151 - SLC26A4-AS1 antisense 0 0 0 0 0 9 0 3 0 ENSG00000233706 chr1 226992140 226993206 + AL353689.2 antisense 0 0 0 0 0 0 3 0 2 ENSG00000233707 chr2 109737139 109737523 - RPL22P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233708 chr1 42886597 42888767 - AL512353.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233709 chr2 155311023 155311409 + MTND4P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233710 chrX 67533163 67533987 + AL049564.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233711 chr20 43423196 43423538 - EIF4EBP2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233712 chr1 157636300 157640301 - AL135929.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233713 chr9 86132622 86132851 + AL161447.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233714 chr2 23347654 23351864 + AC012506.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233716 chr2 63232453 63233577 - AC074367.1 processed_pseudogene 0 0 3 0 0 3 2 0 0 ENSG00000233717 chr1 151111912 151112728 - RPS29P29 processed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000233718 chr2 15921037 15942249 - MYCNOS antisense This gene is transcribed in antisense to the v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog gene (MYCN). It is thought to encode a small, novel protein that stabilizes MYCN, prevents apoptosis, and promotes cell proliferation. Transcripts at this locus may also act directly as functional RNAs to recruit transcriptional regulators to the promoter of MYCN and stimulate transcription of this oncogene. This gene therefore functions through both RNA and protein products. [provided by RefSeq, Aug 2016]. 10408 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0043066, GO:0033673, GO:0031647, GO:0008284, GO:0007275, negative regulation of apoptotic process, negative regulation of kinase activity, regulation of protein stability, positive regulation of cell population proliferation, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000233719 chr12 9641723 9643011 + GOT2P3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233720 chr22 22157382 22157631 + AC245517.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233721 chr9 126516417 126518808 + AL356309.2 lincRNA 0 0 0 0 0 0 3 0 0 ENSG00000233723 chr2 58427799 59063766 + LINC01122 lincRNA 2 0 2 1 0 2 0 1 1 ENSG00000233724 chr10 65248032 65248792 - AL513321.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233725 chr13 43908669 44030461 + LINC00284 lincRNA 121838 0 0 0 0 2 0 0 0 0 ENSG00000233727 chr9 107853783 107854258 - AL162389.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233728 chr1 37799720 37800879 - AL929472.3 antisense 0 3 0 0 4 0 11 0 0 ENSG00000233729 chr2 132915557 132931494 + AC016909.2 antisense 101928185 0 0 0 0 0 0 0 0 0 ENSG00000233730 chr1 115099672 115102658 + LINC01765 lincRNA 67 32 43 40 50 34 48 57 34 ENSG00000233732 chr16 32995048 32995505 + IGHV3OR16-10 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000233733 chr22 31521199 31521592 - H2AFZP6 processed_pseudogene 0 3 1 0 3 5 2 0 0 ENSG00000233735 chr1 240177839 240179644 - AL359918.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233737 chr11 93221486 93221630 - AP003072.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233739 chr22 38057180 38073940 - AL031587.2 antisense 14 13 19 25 11 22 20 12 56 ENSG00000233740 chrY 24278337 24281140 - CICP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233741 chr2 119993199 119993611 - AC016691.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233746 chr20 23125068 23132621 - LINC00656 lincRNA 200261 6 41 11 1 17 17 0 10 1 ENSG00000233747 chr2 24334512 24335152 + RPL36AP13 processed_pseudogene 0 0 1 0 0 1 0 0 0 ENSG00000233750 chr1 131025 134836 + CICP27 processed_pseudogene 125 177 143 121 228 105 148 170 76 ENSG00000233751 chr2 222677677 222678289 - AC104772.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233752 chr2 36299388 36299830 - AC009414.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233754 chr21 42781074 42782229 - AP001628.2 lincRNA 0 0 0 0 1 0 0 0 1 ENSG00000233755 chr1 25043707 25113120 - AL050344.1 lincRNA 2 0 2 0 0 0 2 0 0 ENSG00000233756 chr21 40615378 40630767 - DSCAM-IT1 sense_intronic 100874326 0 0 0 0 0 0 0 0 0 ENSG00000233757 chr2 95207535 95259774 + AC092835.1 protein_coding 2 0 3 1 0 7 4 0 3 ENSG00000233760 chr7 26551822 26557200 + AC004947.1 lincRNA 100506289 0 0 0 0 0 0 0 0 0 ENSG00000233762 chr2 171517270 171517716 - AC007969.1 processed_pseudogene 11 6 14 37 17 40 15 18 33 ENSG00000233764 chr22 36172422 36172779 + MTCO1P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233765 chr9 66253424 66254464 - AL591479.1 unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000233766 chr2 191846539 192044525 + AC098617.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000233767 chr21 46072085 46072248 - PSMA6P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233771 chr1 223947605 223950416 + CICP5 unprocessed_pseudogene 2 1 0 2 11 3 0 1 0 ENSG00000233774 chrY 12618983 12634402 - MED14P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233775 chr1 32349194 32350663 - AL109945.1 lincRNA 4 4 11 0 0 0 0 0 0 ENSG00000233776 chr9 33732975 33738416 - LINC01251 antisense 101929688 0 0 3 0 0 0 0 0 0 ENSG00000233778 chr8 92144088 92144435 - AC104339.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000233780 chr13 20938564 20949599 - HNRNPA1P30 transcribed_processed_pseudogene 101930748 0 0 0 0 0 0 0 0 0 ENSG00000233782 chr7 63087070 63088261 - ZNF90P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233783 chr21 25928754 25942686 + AP001442.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000233785 chrX 23772992 23782956 - AC131011.1 antisense 7 11 10 76 13 13 97 8 15 ENSG00000233786 chr2 132262328 132263042 + CDC27P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000233787 chr5 29881709 29882945 - AC010374.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233791 chr1 203298758 203305309 - LINC01136 lincRNA 730227 112 125 136 85 142 200 131 86 187 ENSG00000233792 chr1 152124016 152196699 - PUDPP2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233797 chr6 96358374 96521669 - UFL1-AS1 antisense 0 0 2 0 0 0 0 1 0 ENSG00000233799 chr4 764487 765074 - AC139887.1 antisense 49 80 54 54 76 82 88 53 56 ENSG00000233802 chr11 89924064 89933063 + TRIM49D2 protein_coding 729384 GO:0005737, cytoplasm, GO:0061630, GO:0008270, ubiquitin protein ligase activity, zinc ion binding, GO:0045087, GO:0016567, GO:0010468, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000233803 chrY 9337464 9340284 + TSPY4 protein_coding 728395 GO:0005634, nucleus, GO:0042393, GO:0003682, histone binding, chromatin binding, GO:0030154, GO:0007506, GO:0007283, GO:0006334, cell differentiation, gonadal mesoderm development, spermatogenesis, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000233805 chr10 53766400 53766614 + AL365496.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233806 chr2 241881363 242078722 + LINC01237 processed_transcript 101927289 1 0 2 0 1 7 1 0 4 ENSG00000233807 chrX 27218131 27218678 - AC097262.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233810 chrX 37291168 37292227 + MOB1AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233814 chr9 76419934 76420631 + AL590664.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233816 chr9 21367424 21368962 - IFNA13 protein_coding 3447 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005132, GO:0005125, protein binding, type I interferon receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000233817 chr9 113619228 113622634 + AL162727.1 lincRNA 0 0 0 0 4 0 0 0 0 ENSG00000233818 chr21 36445731 36532408 + AP000695.2 antisense 0 0 0 0 4 0 0 2 0 ENSG00000233819 chr1 152744299 152744606 + LCEP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233820 chr9 96725890 96727469 + AL589843.2 transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 1 ENSG00000233821 chr13 43543918 43548056 + ENOX1-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233822 chr6 27837760 27865798 + HIST1H2BN protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8341 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleosome, GO:0046982, GO:0003677, GO:0003677, protein heterodimerization activity, DNA binding, DNA binding, GO:0016567, GO:0006334, GO:0006334, protein ubiquitination, nucleosome assembly, nucleosome assembly, 26 34 37 5 35 35 37 27 34 ENSG00000233823 chr6 151813276 151814179 - AL356311.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233824 chr7 25321302 25326815 - AC003985.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233825 chr10 32346499 32347179 + AL391839.2 antisense 98 92 118 67 89 121 81 91 85 ENSG00000233827 chr1 200213678 200214322 + CCNQP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233828 chr5 87205408 87240145 - LINC01949 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233829 chr2 46003942 46004309 - AC017078.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233830 chr7 27458163 27458849 - EIF4HP1 processed_pseudogene 11 10 29 15 2 18 12 8 10 ENSG00000233832 chr10 38783004 38783108 + AL590623.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233833 chrX 65794345 65795835 + ETF1P3 processed_pseudogene 0 0 0 0 0 0 0 1 1 ENSG00000233834 chr7 20217577 20221700 + AC005083.1 processed_transcript 100506098 0 0 0 1 0 0 2 0 0 ENSG00000233835 chr6 79871873 79874610 + AL132875.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233836 chr19 23762944 23833314 + AC139769.1 transcribed_unprocessed_pseudogene 4 0 0 4 2 3 0 0 1 ENSG00000233837 chr10 42566677 42567483 + EIF3LP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233838 chr20 62845664 62845912 + DPH3P1 processed_pseudogene 2 1 8 6 3 4 4 3 5 ENSG00000233839 chr1 113168994 113169403 + AL357055.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233840 chr13 66990886 67002007 + PCDH9-AS4 antisense 100874087 0 0 0 0 0 0 0 0 0 ENSG00000233842 chr2 145915090 145931146 + AC062031.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233843 chrY 26400611 26401230 + CYCSP48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233844 chr6 72630495 72678558 + KCNQ5-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000233845 chr2 47035279 47040524 - AC093732.1 antisense 0 0 1 8 0 0 1 0 0 ENSG00000233846 chr9 6278667 6279153 + SELENOTP1 processed_pseudogene 5 5 1 0 8 8 0 4 6 ENSG00000233847 chr5 60917490 60919573 + AC022445.1 antisense 3 2 1 1 1 3 2 0 3 ENSG00000233848 chr6 20756103 20800694 - AL513188.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233849 chr2 70301451 70302072 + AC022201.2 antisense 6 8 7 3 8 5 4 3 0 ENSG00000233850 chr2 95025193 95026709 - AC103563.7 antisense 1 0 0 0 0 0 5 0 1 ENSG00000233851 chr13 21005157 21018122 + LATS2-AS1 antisense 1 1 1 5 7 14 0 1 0 ENSG00000233852 chr17 13932720 13940594 - AC005304.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000233854 chr7 38984243 39013551 - POU6F2-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233858 chr8 48590401 48594621 + LINC02599 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233859 chr6 65836930 65838039 - ADH5P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233860 chr4 76756960 76758474 - AC107072.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233861 chrX 135730733 135732197 - MGAT2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233862 chr2 30051066 30143804 - AC016907.2 antisense 0 1 0 4 0 5 2 2 2 ENSG00000233864 chrY 12662334 12692233 + TTTY15 lincRNA 60 20 59 63 14 82 45 16 51 ENSG00000233866 chr22 15914721 15915800 - AC145543.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233867 chr10 38640971 38689068 - SLC9B1P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233868 chr2 221944223 221944612 + AC009302.1 processed_pseudogene 18 12 7 5 0 1 2 3 7 ENSG00000233869 chr2 208208135 208208984 + RPSAP27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233870 chr2 71178587 71178773 + AC007881.1 unprocessed_pseudogene 1 0 0 0 0 0 0 0 1 ENSG00000233871 chr10 77927372 77929824 + DLG5-AS1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000233872 chr2 74618856 74620979 - AC005033.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233873 chr13 76981175 76981916 - RPL7P44 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000233874 chrX 109568478 109570289 + AL118496.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233875 chr1 154579065 154579663 - AL592078.1 antisense 3 7 8 4 6 1 4 3 2 ENSG00000233876 chr7 9614978 9615985 + GAPDHP68 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233877 chr1 64941979 64942365 + AL606517.1 processed_pseudogene 2 4 1 1 3 0 0 2 0 ENSG00000233878 chr7 156437789 156445588 - AC073133.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233880 chrX 35761499 35762479 + AL161722.2 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000233882 chr1 191221159 191228467 - LINC01680 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233884 chr9 87848113 87853442 - AL772337.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233885 chr3 183806457 183810783 - YEATS2-AS1 antisense 33 38 33 51 69 40 26 38 27 ENSG00000233887 chrX 97847263 97849017 + AL354685.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233888 chr2 202614853 202615529 + MTCO2P17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233891 chr2 59238714 59733396 - AC007179.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233892 chr6 30186798 30188614 - PAIP1P1 processed_pseudogene 0 0 0 0 0 1 0 0 1 ENSG00000233893 chr6 158817979 158822252 + EZR-AS1 antisense 101409257 57 40 75 87 29 100 92 33 36 ENSG00000233894 chr1 74468195 74469543 + AC105271.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233896 chr20 1947246 2007517 + PDYN-AS1 antisense 727993 3 2 19 0 1 0 0 0 0 ENSG00000233900 chr10 64620374 64620922 - RPL17P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233901 chr9 129332300 129359538 + LINC01503 lincRNA 100506119 50 49 38 27 66 49 42 48 36 ENSG00000233902 chr6 31462728 31463336 - AL645933.1 unprocessed_pseudogene 5 131 2 14 1 0 12 0 3 ENSG00000233903 chr22 42276355 42277052 + Z83851.1 lincRNA 0 0 0 1 0 1 0 0 2 ENSG00000233905 chr13 18609132 18609702 + LONRF2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233906 chr9 23671788 23672399 - AL445623.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233907 chr1 95474737 95479356 + LINC01761 lincRNA 440594 0 0 0 0 0 0 0 0 0 ENSG00000233908 chr6 109288440 109288562 + AL359711.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233909 chr9 129791196 129791837 + UBE2V1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233910 chr1 40593633 40594353 - GTF2F2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233912 chr3 5156905 5187329 - AC026202.2 antisense 0 0 0 2 3 4 3 1 1 ENSG00000233913 chr5 168616352 168616996 + RPL10P9 processed_pseudogene 8 8 12 23 19 26 14 12 28 ENSG00000233915 chr8 86660525 86661922 - UBE2Q2P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233916 chr6 29708125 29708547 - ZDHHC20P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233917 chr15 21846329 21877703 - POTEB protein_coding 100996331 0 0 0 0 0 0 0 0 0 ENSG00000233918 chr7 62275361 62275678 - AC128676.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233919 chr3 41162287 41168547 - AC009743.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233920 chr1 229223461 229227562 - AL162595.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233921 chrX 36374793 36375183 - RPS15AP40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233922 chr21 45593654 45603056 + LINC01694 lincRNA 105372840 2 0 1 0 4 0 0 0 0 ENSG00000233924 chr14 55004813 55005687 - RPSAP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233926 chr9 81689713 81776900 + AL591368.1 lincRNA 101927502 0 0 0 0 0 0 3 0 0 ENSG00000233927 chr19 8321158 8323340 + RPS28 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. 6234 GO:0098556, GO:0070062, GO:0042788, GO:0022627, GO:0022627, GO:0022627, GO:0015935, GO:0005829, GO:0005654, cytoplasmic side of rough endoplasmic reticulum membrane, extracellular exosome, polysomal ribosome, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, cytosolic small ribosomal subunit, small ribosomal subunit, cytosol, nucleoplasm, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0042274, GO:0042254, GO:0030490, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0006364, GO:0002181, GO:0000184, GO:0000028, ribosomal small subunit biogenesis, ribosome biogenesis, maturation of SSU-rRNA, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, rRNA processing, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, ribosomal small subunit assembly, 193 199 286 777 592 822 480 527 586 ENSG00000233928 chrX 33726508 33942280 + AL591501.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233929 chr1 16241213 16241398 - MT1XP1 processed_pseudogene 3 6 4 13 14 13 9 14 4 ENSG00000233930 chr11 1571353 1599184 + KRTAP5-AS1 antisense 338651 0 0 0 4 1 3 1 1 1 ENSG00000233932 chr15 48178122 48203756 + CTXN2 protein_coding 399697 GO:0016021, integral component of membrane, 5 0 1 2 0 2 0 0 8 ENSG00000233933 chr9 72275453 72275973 + AL135924.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000233934 chr2 171587093 171587259 + RPL21P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233936 chr9 135245696 135252708 - AL390778.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233937 chr5 181246523 181272167 + CTC-338M12.4 processed_transcript 101928649 168 147 108 173 195 247 174 131 112 ENSG00000233939 chr2 106304755 106305197 + AC114755.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233940 chr1 35053468 35059271 + RPL12P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233941 chr6 106358566 106359717 - AL356859.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233942 chr7 95471835 95473998 + AC004012.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233943 chr5 56975593 56976224 - AC114973.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233944 chrY 25393154 25394056 - LINC00265-3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233945 chr10 83672406 83675439 - AC069540.2 lincRNA 105378397 0 0 0 0 0 0 0 0 0 ENSG00000233946 chr1 175297080 175297240 + RPS29P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233947 chr9 78178263 78179512 + AL353705.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233951 chr7 138122202 138124595 + RCC2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233952 chr7 45997540 45998071 - FTLP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233953 chr2 60495686 60499964 + AC009970.1 antisense 0 2 1 0 0 7 4 0 0 ENSG00000233954 chr1 15807169 15809348 - UQCRHL protein_coding This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. [provided by RefSeq, Jul 2008]. 440567 GO:0005750, mitochondrial respiratory chain complex III, GO:0008121, ubiquinol-cytochrome-c reductase activity, GO:0009060, GO:0006122, aerobic respiration, mitochondrial electron transport, ubiquinol to cytochrome c, 16 30 22 30 37 39 26 26 32 ENSG00000233955 chr2 104395002 104396280 - AHCYP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233956 chr21 33518610 33519108 - BTF3P6 processed_pseudogene 0 0 3 0 0 0 0 0 0 ENSG00000233960 chr7 52165235 52192913 - AC079763.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233962 chr7 57652736 57653459 - AC064862.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233963 chr13 26094724 26154175 - ATP8A2P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233966 chr17 15704232 15704900 - UBE2SP1 processed_pseudogene 14 14 15 80 30 35 48 15 13 ENSG00000233967 chr6 80443344 80465927 + AL359715.1 lincRNA 1 0 1 1 2 1 0 5 0 ENSG00000233968 chr10 19710328 19728550 - AL157895.1 antisense 101928834 1 0 0 0 0 0 0 0 0 ENSG00000233969 chr7 120168345 120186064 + AC004946.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233970 chr2 692083 693235 - AC092159.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000233971 chr2 71984182 71984434 - RPS20P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233973 chr1 73306170 73355253 + LINC01360 lincRNA 101927295 0 0 0 0 0 0 0 0 0 ENSG00000233974 chr5 21481327 21484011 - AC138951.1 processed_pseudogene 0 0 6 0 0 18 0 0 9 ENSG00000233975 chr1 27660328 27662722 - LINC02574 lincRNA 111216282 0 0 1 1 0 0 0 1 2 ENSG00000233977 chr7 55592074 55593193 + AC099681.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233978 chr2 43041193 43043782 - LINC02590 lincRNA 5 1 3 4 0 3 7 0 4 ENSG00000233979 chr17 16084042 16084381 + RPL22P21 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000233980 chr7 76470162 76471058 - FDPSP2 processed_pseudogene 6 4 7 2 0 1 5 6 0 ENSG00000233981 chr6 14004920 14006901 + AL022396.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233983 chr1 99464378 99464776 + AL365220.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233984 chrX 74031462 74031820 + RPSAP14 processed_pseudogene 0 0 0 1 0 0 2 0 1 ENSG00000233985 chr1 170174403 170241287 + LINC01681 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233987 chr3 194705548 194706964 + AC106706.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000233990 chr10 7833618 7833957 - AL353754.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233993 chr20 18674395 18698709 - AL121900.1 antisense 101929526 0 0 0 0 0 0 0 0 0 ENSG00000233994 chr1 72274552 72275159 + GDI2P2 processed_pseudogene 0 0 0 0 0 0 2 1 0 ENSG00000233995 chr22 16572027 16574637 + AP000547.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000233996 chr2 189486480 189487992 - AC013439.1 processed_pseudogene 0 2 1 0 0 0 0 0 0 ENSG00000233997 chr21 21746973 21797415 + LINC01425 lincRNA 101927821 0 0 0 0 0 0 0 0 0 ENSG00000233998 chr9 137640986 137641547 - SETP5 processed_pseudogene 2 0 4 0 0 5 0 5 12 ENSG00000233999 chr2 87338511 87339035 + IGKV3OR2-268 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000234001 chr7 117586207 117586416 - AC000111.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234003 chr19 12506249 12508030 + MTATP6P27 unprocessed_pseudogene 2 0 1 1 0 1 1 4 4 ENSG00000234004 chr1 211173488 211173849 + AC092017.2 processed_pseudogene 1 0 0 1 0 0 0 0 0 ENSG00000234005 chr13 99190579 99190991 - GAPDHP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234006 chr6 31542304 31543138 + DDX39B-AS1 antisense 106478957 0 0 0 0 0 0 0 0 0 ENSG00000234008 chr21 35887195 35887807 + PPP1R2P2 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000234009 chr22 42776406 42777296 - RPL5P34 processed_pseudogene 6 8 11 18 5 25 13 13 15 ENSG00000234015 chr6 12582915 12585404 - LINC02530 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234016 chr10 125960208 125960406 - GNG10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234017 chr10 112548632 112548872 - AC022018.1 processed_pseudogene 2 1 0 2 2 0 0 3 0 ENSG00000234019 chrX 53093710 53094858 - AL591212.1 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000234020 chr1 111353275 111367409 - CHIAP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234021 chr9 8936079 8963077 + AL596451.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234022 chr2 15564170 15573868 + AC008278.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234025 chr6 73157517 73158139 - RBPMS2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234026 chr10 95228243 95231144 - AL157834.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000234028 chr2 88627539 88631821 + AC062029.1 antisense 13 13 11 203 342 374 156 253 278 ENSG00000234030 chr21 43783123 43783573 + TMEM97P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234031 chr13 26576886 26577675 + RPS3AP44 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000234033 chr13 61805150 61805676 + RAC1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234034 chr21 22500604 22520058 - AP000959.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234036 chr4 76958860 76959169 - TXNP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234039 chrX 86066227 86066468 - NDUFA5P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234040 chr12 68626870 68627187 - RPL10P12 processed_pseudogene 0 7 2 2 5 5 2 2 4 ENSG00000234041 chr1 179137764 179137934 + AL512326.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234042 chr9 63703065 63703755 + AL591438.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234043 chr10 91152605 91153349 - NUDT9P1 processed_pseudogene 2 0 0 6 1 0 6 1 0 ENSG00000234044 chr2 128067194 128067407 + AC108059.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234048 chr3 28427963 28428444 - FAM96AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234050 chrX 102937770 102940561 - Z95624.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234052 chr21 27638693 27653491 + LINC01673 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234055 chr9 129097854 129100266 + AL158151.2 antisense 0 0 0 0 3 0 0 4 0 ENSG00000234056 chr13 25172828 25180079 - LINC00463 lincRNA 101928922 0 0 0 0 0 0 0 0 0 ENSG00000234059 chrY 12930165 12948182 - CASKP1 unprocessed_pseudogene 1 0 0 0 3 0 3 0 3 ENSG00000234060 chr2 134319654 134320078 - EDDM3CP processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000234061 chr2 171492905 171493095 + AC007969.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234062 chrX 136909395 137021630 + AL390879.1 transcribed_unprocessed_pseudogene 0 6 2 4 6 4 0 6 0 ENSG00000234064 chr1 12926162 12928253 + PRAMEF29P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234065 chr2 120213631 120214989 + MTND4P26 processed_pseudogene 0 1 6 0 2 5 2 3 3 ENSG00000234066 chr7 143437034 143437973 + TAS2R62P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234067 chr3 40586535 40587428 - RPL5P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234068 chrX 55089008 55092842 + PAGE2 protein_coding 203569 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000234069 chr20 24445391 24446314 + GAPDHP53 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234070 chr1 217781198 217785120 - SPATA17-AS1 antisense 103752555 0 0 0 0 0 0 0 0 0 ENSG00000234071 chr7 125344969 125345377 + AC010099.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234072 chr2 27356246 27367622 + AC074117.1 antisense 15 11 24 35 32 27 40 25 18 ENSG00000234073 chr3 36880184 36880729 - AC011816.1 processed_pseudogene 5 7 5 3 5 6 2 6 5 ENSG00000234075 chr20 47478214 47479010 - RPL35AP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234076 chr3 188941715 188947639 - TPRG1-AS1 lincRNA 100874043 0 0 0 0 0 0 0 0 0 ENSG00000234080 chr1 50326131 50327007 + AL596275.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234081 chrY 24006911 24007237 - ELOCP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234083 chr21 27954922 27985295 + AJ006995.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234084 chr6 135301568 135307158 + AL049552.1 antisense 0 1 0 0 0 3 0 0 0 ENSG00000234085 chr7 57654822 57655392 + AC064862.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234087 chr20 34347671 34347785 - AL356299.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234088 chr1 62190522 62190926 + RPS15AP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234089 chr7 57209865 57222174 - AC099654.1 lincRNA 105375297 0 0 0 0 0 0 0 0 0 ENSG00000234091 chr10 13729383 13756200 + AL157392.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234093 chr1 44780331 44780715 - RPS15AP11 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000234099 chr1 93922574 93923945 - MTND4P11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234102 chr10 68260557 68261499 + KRT19P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234104 chr20 20970448 20972562 + AL133465.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234105 chr7 53514992 53517116 - AC009468.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234106 chr11 93535468 93535816 + SRP14P2 processed_pseudogene 0 1 0 0 0 0 1 2 0 ENSG00000234107 chr21 31840341 31840858 + TPT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234108 chr1 80495903 80496233 + AL596276.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234109 chr10 99047639 99048319 + RPL7P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234110 chrY 9624183 9626352 + TSPY25P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234111 chr4 157572490 157576154 + LINC02433 lincRNA 340017 0 0 0 0 0 0 0 0 0 ENSG00000234112 chr1 225803148 225803448 + AC099066.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234115 chr6 7516600 7517840 - AL138878.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234116 chr1 243005845 243007468 - AL606534.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234117 chr6 116492297 116497099 + AL445224.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234118 chr10 110936622 110937233 - RPL13AP6 processed_pseudogene 644511 2 4 4 0 1 7 1 5 6 ENSG00000234119 chr2 145826285 145827830 - AC079248.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234120 chr8 7112314 7113728 - AF228730.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234121 chr22 16837522 16837666 + GPM6BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234122 chr9 33634111 33634246 + TRBV22OR9-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234123 chr3 14572852 14574792 - RHBDF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234124 chr4 70067386 70085290 + CSN1S2AP transcribed_unitary_pseudogene This locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Jul 2008]. 286828 0 0 0 0 0 0 0 0 0 ENSG00000234125 chr4 129903010 129904163 + EEF1GP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234127 chr6 30184455 30213427 - TRIM26 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]. 7726 GO:0005829, GO:0005737, GO:0005634, GO:0005575, cytosol, cytoplasm, nucleus, cellular_component, GO:0061630, GO:0046872, GO:0008270, GO:0005515, GO:0003677, ubiquitin protein ligase activity, metal ion binding, zinc ion binding, protein binding, DNA binding, GO:1902187, GO:0060333, GO:0051091, GO:0051091, GO:0046597, GO:0045087, GO:0045087, GO:0016567, GO:0010468, negative regulation of viral release from host cell, interferon-gamma-mediated signaling pathway, positive regulation of DNA-binding transcription factor activity, positive regulation of DNA-binding transcription factor activity, negative regulation of viral entry into host cell, innate immune response, innate immune response, protein ubiquitination, regulation of gene expression, 0 0 0 0 0 0 0 0 1 ENSG00000234129 chrX 10847877 11111141 - AC073529.1 lincRNA 0 0 1 2 0 0 0 0 0 ENSG00000234130 chrX 93222220 93225015 - AL359263.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000234131 chrY 22517242 22517573 - ELOCP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234132 chr1 201031136 201043073 + AL358473.2 antisense 2 0 3 0 0 0 6 0 2 ENSG00000234134 chr10 125718771 125719365 - AL158835.2 sense_intronic 2 0 0 0 0 0 0 0 4 ENSG00000234135 chrX 56242937 56243409 - RPL23AP83 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234136 chr3 197830685 197831296 - AC055764.1 antisense 14 10 13 1 12 3 3 14 14 ENSG00000234139 chr20 36072441 36085260 + AL035420.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234141 chr7 7949853 7950709 - AC006042.4 antisense 2 0 3 2 2 8 2 0 0 ENSG00000234142 chr1 166475772 166490039 - LINC01675 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234143 chr2 233647926 233649026 + UGT1A13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234144 chr1 65298755 65298980 - COX6CP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234145 chr13 47763460 47764606 + NAP1L4P3 processed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000234146 chr9 11011748 11013096 + AKAP8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234147 chr6 140845958 140852924 - AL035446.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000234148 chr2 113512463 113515485 + LINC01961 lincRNA 0 1 1 0 0 0 0 0 3 ENSG00000234149 chr10 75003055 75025174 - AC018511.2 antisense 8 13 6 18 10 12 5 5 15 ENSG00000234152 chr13 25365799 25366155 - ELOBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234155 chr6 85387219 85390186 - LINC02535 lincRNA 101928820 0 0 0 1 0 0 0 0 0 ENSG00000234156 chr9 122609915 122639685 + AL162254.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234158 chr3 26015669 26016369 + RPEP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234159 chr21 15744004 15745080 - RBPMSLP processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000234160 chr9 37509150 37510299 + AL513165.1 antisense 2 0 6 4 2 5 6 3 0 ENSG00000234161 chrX 91414878 91434999 - PABPC5-AS1 antisense 102724167 0 0 0 0 0 0 0 0 0 ENSG00000234162 chr2 105959084 105962006 - AC009505.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234163 chr10 33023368 33023647 - MTND4LP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234166 chr1 16197854 16198357 + ARHGEF19-AS1 antisense 0 0 0 2 1 0 4 0 0 ENSG00000234167 chr10 34488583 34488878 - ELOBP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234168 chr13 99577112 99580368 + LINC01039 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234169 chr2 100669892 100676038 - LINC01868 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234170 chr10 2446253 2447352 - AC024908.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234171 chr2 3558492 3561745 + RNASEH1-AS1 antisense 5 2 11 7 6 7 18 11 5 ENSG00000234172 chr2 183904529 183949112 + AC093639.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234173 chr10 54486230 54656051 + AL353784.1 antisense 105378311 0 0 0 0 0 0 0 0 0 ENSG00000234174 chr2 113171535 113175360 - AC016683.1 antisense 86 91 83 40 69 45 44 36 44 ENSG00000234175 chr10 13139196 13139533 - AL355355.2 processed_pseudogene 2 0 2 0 0 0 4 0 0 ENSG00000234176 chrX 121203182 121205014 - HSPA8P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000234177 chr2 104746638 104757719 - LINC01114 lincRNA 284998 0 0 0 0 0 0 0 0 0 ENSG00000234178 chr8 7028641 7029489 - DEFA11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234179 chrY 8364032 8365150 + MTCYBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234181 chr9 35096378 35098141 + AL353795.2 antisense 1 2 1 0 0 0 2 0 0 ENSG00000234182 chr10 3010531 3013111 + AL731533.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234183 chr7 44848416 44849568 + LINC01952 antisense 0 0 0 3 1 1 0 0 1 ENSG00000234184 chr1 80535755 80646788 + LINC01781 lincRNA 101927412 1 0 0 7 0 0 0 1 0 ENSG00000234185 chr7 66119603 66165011 - AC068533.3 antisense 1 3 2 0 3 0 7 2 1 ENSG00000234186 chr16 27066707 27069165 + C16orf82 lincRNA 162083 0 0 0 0 0 0 0 0 0 ENSG00000234187 chr20 14127400 14128336 + AIMP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234189 chr2 22317053 22317244 + AC099799.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234190 chr1 147777590 147788953 + AC241644.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234191 chrX 39401252 39434824 - AC091808.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234192 chr10 87642607 87642954 + RPS26P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234193 chr2 222917387 222919363 - AC013476.1 antisense 1 0 1 6 0 10 1 0 2 ENSG00000234197 chr3 186079170 186080947 + ETV5-AS1 antisense 0 0 0 0 0 2 0 0 1 ENSG00000234199 chr2 113979569 114007302 + LINC01191 lincRNA 440900 4 3 1 0 2 14 5 7 6 ENSG00000234200 chrX 153028785 153030148 + AC243591.1 unprocessed_pseudogene 0 0 0 0 1 0 1 0 0 ENSG00000234201 chrX 67791955 67792895 - BMI1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234202 chr1 92749175 92749330 - AC104332.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234203 chr17 4972851 4974681 + AC004771.2 antisense 103 127 128 42 99 97 94 61 62 ENSG00000234204 chr1 62189131 62189953 + PIGPP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234206 chr6 107509803 107511721 - AL121957.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234207 chr2 22377594 22482004 + AC096570.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234208 chr22 29513889 29535390 - AC005529.1 sense_intronic 0 0 2 3 6 0 0 1 5 ENSG00000234210 chr7 157466231 157499716 + AC006372.3 lincRNA 101927914 0 0 1 0 5 7 1 7 0 ENSG00000234211 chr1 161671978 161674824 - AL451067.1 antisense 12 20 31 10 42 20 21 10 20 ENSG00000234213 chr13 42255873 42256575 + FHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234215 chr7 69595958 69597448 - AC006012.1 lincRNA 100507468 0 0 0 0 0 0 0 0 0 ENSG00000234217 chr9 62601226 62602672 + RBPJP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234219 chr1 207762584 207763263 + CDCA4P4 unprocessed_pseudogene 2 7 7 6 5 4 9 4 9 ENSG00000234222 chr1 145926590 145959179 + LIX1L-AS1 antisense 105371260 352 341 379 435 462 473 456 349 365 ENSG00000234223 chr7 80246409 80312456 - AC003988.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234224 chr7 124030916 124033023 - TMEM229A protein_coding 730130 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000234225 chr1 147001931 147003618 - AC244394.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234226 chr1 96584422 96584727 - NDUFS5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234227 chr13 89833157 89833941 - RPL7L1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234228 chrX 135075136 135076597 - NCLP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234229 chr9 106664754 106702662 + LINC01505 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234230 chrX 24146225 24149654 - ZFX-AS1 antisense 100873922 2 7 0 19 9 1 10 2 4 ENSG00000234231 chr2 87700984 87738105 + AC093616.1 transcribed_unprocessed_pseudogene 2 3 2 0 3 2 0 1 0 ENSG00000234232 chr1 149676851 149747818 - AC243772.3 transcribed_unprocessed_pseudogene 3 5 11 1 5 5 8 6 5 ENSG00000234233 chr1 211132588 211133374 - KCNH1-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000234234 chr7 64107829 64108486 - MTCO2P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234235 chr2 241544403 241558977 - BOK-AS1 antisense 0 0 0 5 0 0 0 0 0 ENSG00000234238 chr3 188107096 188147020 + AC022498.1 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000234239 chr13 99582706 99583180 + CFL1P8 processed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000234241 chr20 6213699 6215381 + AL109618.1 processed_pseudogene 0 0 1 1 0 0 0 0 0 ENSG00000234244 chr10 18746433 18747853 + AL512641.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234247 chr1 224661173 224661886 - AC096537.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234248 chr10 6891457 6920472 - AL392086.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000234253 chr2 49878623 49879363 + RPL7P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234255 chr2 65439888 65456571 - AC012370.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234256 chr10 88876450 88877544 + PTCD2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234257 chr1 103100143 103100704 - SOD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234259 chr5 119680197 119681080 + AC008550.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234261 chr6 14661829 15090003 - AL138720.1 lincRNA 2 0 1 0 1 0 1 2 0 ENSG00000234262 chr1 153023962 153024260 + AL356867.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234263 chr6 136629172 136647999 + AL024508.1 antisense 101928461 12 9 6 11 22 3 13 13 15 ENSG00000234264 chr1 68496676 68538627 + DEPDC1-AS1 antisense 101927220 0 0 0 0 0 0 0 0 0 ENSG00000234265 chr20 12950338 12951627 + LINC01723 lincRNA 100505515 0 0 0 0 0 0 0 0 0 ENSG00000234267 chr13 96941281 96984172 - TULP3P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234268 chr11 117035797 117036051 - AP000936.3 processed_pseudogene 3 6 0 9 3 9 3 2 6 ENSG00000234269 chr9 102922574 102923244 + AL365396.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234270 chr3 41955445 41955763 + RPL36P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234271 chr20 43523261 43523572 - Z98752.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234272 chr2 152131555 152131845 + RPL30P2 processed_pseudogene 2 1 0 6 3 0 0 1 3 ENSG00000234273 chr7 109521981 109597166 - AC073071.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234274 chr20 35850674 35850915 - COX7BP2 processed_pseudogene 3 0 0 0 0 0 0 0 0 ENSG00000234275 chr2 6258348 6341782 - AC017053.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234276 chr9 62690033 62690534 + SDR42E1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234277 chr1 227393591 227431035 + LINC01641 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234278 chr13 57167197 57170218 + PRR20E protein_coding 729250 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000234279 chr2 238720324 238740780 + LINC01937 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234281 chr2 210324759 210469246 + LANCL1-AS1 antisense 0 0 0 2 0 0 1 0 0 ENSG00000234282 chr20 1722045 1722537 - AL109809.2 unprocessed_pseudogene 14 18 13 7 22 9 0 13 6 ENSG00000234283 chr1 148271884 148280749 - LINC01731 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234284 chr5 179023752 179035064 + ZNF879 protein_coding This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and thirteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]. 345462 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 18 6 3 8 4 9 14 3 19 ENSG00000234285 chr2 222503883 222504843 - GAPDHP49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234286 chr7 23680195 23680786 - AC006026.3 antisense 0 0 0 1 1 1 5 0 0 ENSG00000234287 chr3 40761545 40761799 + AC099560.2 processed_pseudogene 12 11 15 47 16 34 12 19 31 ENSG00000234288 chrX 131424301 131425239 + OR1AA1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234289 chr21 43565189 43565648 + H2BFS protein_coding 54145 GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0005615, GO:0000786, cytosol, nucleoplasm, nucleus, nucleus, extracellular space, nucleosome, GO:0046982, GO:0003677, protein heterodimerization activity, DNA binding, GO:0061844, GO:0050830, GO:0021762, GO:0019731, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, substantia nigra development, antibacterial humoral response, nucleosome assembly, innate immune response in mucosa, 0 1 2 0 0 0 0 0 0 ENSG00000234290 chr5 132468890 132473043 - AC116366.1 antisense 535 522 506 868 1454 1317 1025 940 1320 ENSG00000234292 chr5 91280097 91281142 - AC123595.1 lincRNA 67 113 98 50 113 83 68 92 56 ENSG00000234293 chr21 29496047 29500386 + BACH1-IT3 sense_intronic 54147 1 0 1 0 0 0 0 0 3 ENSG00000234296 chr10 26643228 26645016 + AL390961.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000234297 chr9 15055057 15056052 + AL592293.2 processed_pseudogene 2 0 0 0 0 1 3 0 0 ENSG00000234300 chr22 44606939 44625419 - LINC00229 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234303 chr13 99726247 99727491 - CLYBL-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234304 chr7 52891837 52897807 - SGO1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234306 chr10 10365180 10366487 - AL583859.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234308 chr2 212795331 212819264 + LINC01878 lincRNA 102725079 0 0 0 0 0 0 0 0 0 ENSG00000234309 chr10 118572871 118573620 + SLC25A18P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234311 chr10 132433733 132441484 - AL451069.3 antisense 0 0 0 1 1 0 1 0 0 ENSG00000234312 chr7 63113635 63114805 - SAPCD2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234315 chr1 45069977 45070429 - OSTCP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234318 chr1 62896009 62901639 + AC099794.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234319 chr10 80215851 80216119 - RPS12P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234322 chrX 93287733 93288759 - ST13P18 processed_pseudogene 0 0 1 0 2 1 0 1 0 ENSG00000234323 chr9 105993310 106740875 + LINC01505 lincRNA 100996590 0 0 0 0 0 0 0 0 0 ENSG00000234324 chr17 15443639 15444191 + RPL9P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234325 chr3 4414580 4414960 - MRPS10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234327 chr17 5111468 5115004 + AC012146.1 processed_transcript 101928000 0 0 0 10 1 18 0 7 8 ENSG00000234329 chr1 45651039 45651826 - AL604028.2 processed_pseudogene 14 10 25 6 9 15 17 21 28 ENSG00000234332 chr1 100393033 100394026 - BCAS2P2 processed_pseudogene 2 2 6 8 0 3 9 1 0 ENSG00000234333 chr1 171444699 171444963 - CYCSP53 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234335 chr10 32102522 32103293 - RPS4XP11 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000234336 chr7 28180322 28243917 + JAZF1-AS1 antisense 22 7 24 1 11 13 8 5 4 ENSG00000234337 chr16 52655307 52656045 + AC026462.1 processed_pseudogene 8 14 10 0 3 7 3 0 9 ENSG00000234338 chr7 64835280 64836882 - AC073349.2 processed_pseudogene 4 2 12 16 4 26 19 0 21 ENSG00000234340 chr21 22134698 22136083 - AP000705.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234345 chrX 103910305 103911352 - AC234782.3 processed_pseudogene 0 0 0 0 1 0 0 0 8 ENSG00000234349 chrX 111229889 111231061 - GLUD1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234350 chr2 170723086 170770768 - AC007405.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234352 chr7 136685559 137182107 - AC009264.1 antisense 349160 0 0 0 0 0 0 0 0 0 ENSG00000234353 chr22 23638492 23640762 - AP000346.2 transcribed_unprocessed_pseudogene 16 16 16 25 22 24 25 14 21 ENSG00000234354 chr13 100539901 100540248 - RPS26P47 processed_pseudogene 0 0 0 1 0 0 2 0 0 ENSG00000234355 chrX 37505310 37505860 + FTH1P27 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234356 chr7 10476581 10476878 + AC009945.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234358 chr7 111971222 111971988 - AC003080.1 processed_pseudogene 0 1 0 2 0 1 0 2 0 ENSG00000234359 chr7 45391626 45392205 - ELK1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234360 chr9 10532145 10532411 + AL135790.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234361 chr6 157829143 157830573 - AL391863.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000234362 chr2 41931599 41933723 - LINC01914 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234363 chr13 20956179 20956443 - PPIAP27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234367 chr1 145407772 145408173 + PFN1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234369 chr10 63222155 63223045 + TATDN1P1 processed_pseudogene 5 7 0 26 28 37 30 21 19 ENSG00000234371 chr3 183884924 183888449 + RPSAP31 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234373 chr9 33576380 33577014 + SNX18P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234376 chr11 89752785 89753975 - UBTFL2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234377 chr13 77919689 78617328 + RNF219-AS1 antisense 100874222 11 14 23 18 12 35 11 5 12 ENSG00000234378 chr2 20063856 20106829 - AC098828.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234379 chr1 45530927 45532139 + HMGB1P48 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234380 chr21 34745757 34784886 + LINC01426 antisense 100506385 0 1 0 0 0 0 0 0 0 ENSG00000234381 chr22 15635180 15644330 - MED15P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234382 chr10 80233664 80245367 + AL513174.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234383 chr1 68161761 68163090 - CTBP2P8 processed_pseudogene 21 10 8 42 17 32 53 24 23 ENSG00000234384 chr13 90493287 90535080 + LINC01049 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234385 chrY 11781052 11782527 - RCC2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234386 chr4 3901566 3902594 - OR7E162P unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000234387 chr7 63394277 63395439 + AC073188.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234388 chr1 112363281 112363581 + TXNP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234389 chr2 102438713 102440475 + AC007278.1 sense_intronic 278 387 56 243 592 65 233 311 72 ENSG00000234390 chrX 49876724 49879241 - USP27X-AS1 lincRNA 158572 1 0 2 1 0 6 0 3 0 ENSG00000234391 chrX 48306769 48309055 + AL606490.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234393 chr10 113710681 113719332 - AL592546.1 antisense 0 0 0 0 4 0 4 3 0 ENSG00000234394 chr9 68306528 68330626 + AL353608.3 lincRNA 440896 0 0 0 0 0 0 0 0 0 ENSG00000234396 chr1 2212523 2220738 + AL590822.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234397 chr1 22322840 22323331 - PPIAP34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234398 chr2 130245971 130248770 + AC134915.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234399 chrY 24396604 24403526 - RBMY2XP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234402 chr14 105546610 105549694 - ELK2BP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234404 chrX 77374212 77381319 + SPRYD7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234405 chrX 103497523 103500317 + Z69733.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234406 chr7 25185623 25188724 + AC004129.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234409 chr22 20148427 20151065 - CCDC188 protein_coding 388849 GO:0016021, integral component of membrane, 0 3 0 0 0 0 2 0 0 ENSG00000234413 chrX 53340986 53341505 + AC245102.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234414 chrY 21511372 21549326 + RBMY1A1 protein_coding This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]. 5940 GO:0016607, nuclear speck, GO:0005515, GO:0003729, GO:0003723, protein binding, mRNA binding, RNA binding, GO:0045292, GO:0000381, GO:0000381, mRNA cis splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000234415 chr2 173871653 173872465 - RPL5P7 processed_pseudogene 0 3 1 12 4 1 3 1 8 ENSG00000234418 chr7 122216347 122218437 + AC015983.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234419 chr1 222468094 222470882 + CICP13 processed_pseudogene 0 1 1 0 0 7 0 0 5 ENSG00000234420 chr10 42513510 42552822 - ZNF37BP transcribed_processed_pseudogene 100129482 168 148 167 306 275 261 266 174 238 ENSG00000234421 chr13 57314739 57315909 + SLC25A5P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234422 chr1 96418594 96418933 + UBE2WP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234423 chr2 2895048 3126026 - LINC01250 lincRNA 101927554 0 0 0 0 0 0 0 0 0 ENSG00000234424 chr9 85753306 85786575 + AL353743.4 unprocessed_pseudogene 3 5 15 7 9 1 5 5 6 ENSG00000234425 chr1 160537073 160571458 + AL138930.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000234426 chr6 88177804 88421033 - AL139042.1 lincRNA 71 66 0 70 65 0 45 40 0 ENSG00000234427 chr6 11810602 11811248 + AL022724.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234428 chr12 26623369 26649479 + AC023051.1 antisense 3 6 7 4 24 13 6 8 11 ENSG00000234429 chr2 81194337 81201184 - AC105342.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234431 chr2 201166965 201167546 + AC007283.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000234432 chr7 5426277 5428927 - AC092171.3 lincRNA 100129484 6 7 7 8 5 5 6 6 0 ENSG00000234435 chr20 22054090 22074654 + LINC01432 lincRNA 100270679 0 0 0 0 0 0 0 0 0 ENSG00000234436 chr19 54301758 54306026 - AC245884.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234438 chr15 65076816 65079939 + KBTBD13 protein_coding The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]. 390594 GO:0005829, cytosol, GO:0043687, GO:0016567, post-translational protein modification, protein ubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000234439 chr21 20424949 20426206 - KRT18P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234441 chr1 103668071 103668268 - AC105272.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234442 chrX 71760764 71763075 - BX276092.5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234444 chr7 64307459 64354860 + ZNF736 protein_coding 728927 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 50 49 81 81 38 60 50 23 79 ENSG00000234445 chr13 102367539 102373666 + FGF14-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234446 chr2 221637543 221641813 + AC068489.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234448 chrX 48371905 48372095 + AL606490.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234450 chr7 156633355 156633787 + AC005534.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234451 chr9 62609725 62610799 - BX005266.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234452 chr10 89456064 89468140 + SLC16A12-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234455 chr2 121081437 121088726 - AC067960.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234456 chr7 79452877 79471208 + MAGI2-AS3 processed_transcript 100505881 0 0 0 0 1 7 2 1 0 ENSG00000234457 chr7 36305631 36305904 + AC006960.1 processed_pseudogene 0 7 1 3 6 4 5 4 0 ENSG00000234458 chr3 125703349 125704312 + OR7E130P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234459 chr7 90266034 90270216 - AC002064.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234460 chr9 87864096 87866291 + AL772337.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234463 chrX 68645326 68645527 - COX6CP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234464 chr1 238276037 238287016 + AL356010.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234465 chr19 43576800 43583964 + PINLYP protein_coding 390940 GO:0005576, extracellular region, GO:0004859, phospholipase inhibitor activity, GO:0043086, negative regulation of catalytic activity, 3 5 0 0 0 3 1 0 3 ENSG00000234466 chrX 55054945 55055838 - AL590240.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234467 chr7 63398046 63398957 + SLC25A1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234469 chrX 9967358 9968352 + CLDN34 protein_coding 100288814 GO:0016021, GO:0005923, GO:0005886, integral component of membrane, bicellular tight junction, plasma membrane, GO:0005198, structural molecule activity, GO:0070830, GO:0007155, bicellular tight junction assembly, cell adhesion, 0 0 0 0 4 0 0 0 0 ENSG00000234471 chr7 484107 496118 - AC147651.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234473 chr1 192993449 192994677 - ZNF101P2 processed_pseudogene 0 0 2 0 0 0 1 0 0 ENSG00000234474 chr10 117158656 117169059 - MIR3663HG lincRNA 101927704 0 0 0 3 0 0 0 0 0 ENSG00000234476 chr1 225447243 225465343 - AC092811.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000234477 chr17 40921430 40975926 + AC004231.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234478 chr1 226148003 226155071 + ACBD3-AS1 antisense 36 32 33 13 23 29 19 23 15 ENSG00000234479 chr22 32121977 32133469 + AP1B1P1 transcribed_unprocessed_pseudogene 23782 0 0 0 0 0 0 0 0 0 ENSG00000234480 chr2 131381840 131382497 - MTCO2P18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234481 chr1 36773140 36775768 + AC117945.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234484 chr6 132752675 132753951 + AL032821.1 antisense 2089 1598 2328 223 774 396 428 718 452 ENSG00000234485 chr2 71037685 71038703 + OR7E46P unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000234488 chr2 63684305 63684710 + AC096664.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000234489 chr10 62741208 62741385 - ALDH7A1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234491 chr2 206419292 206420238 - HNRNPA1P51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234492 chr4 108538190 108620460 - RPL34-AS1 lincRNA 285456 0 1 4 2 1 2 6 2 2 ENSG00000234493 chrX 119978713 120025138 - RHOXF1P1 transcribed_unprocessed_pseudogene 101928941 1 18 28 0 3 7 2 0 3 ENSG00000234494 chr17 47897330 47941410 - SP2-AS1 antisense 12 13 4 8 9 18 13 5 7 ENSG00000234496 chr1 65092392 65092614 - MRPS21P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234497 chr1 74577430 74626098 + ERICH3-AS1 antisense 101927320 0 0 0 0 0 0 0 0 0 ENSG00000234498 chr12 12875499 12876107 + RPL13AP20 processed_pseudogene 387841 2 0 0 0 0 0 4 4 0 ENSG00000234500 chr7 66511556 66545066 + AC008267.3 unprocessed_pseudogene 4 10 6 13 19 16 13 5 11 ENSG00000234502 chr9 101375344 101376603 - FYTTD1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234503 chr22 21177892 21179875 - AP000550.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234504 chr10 44899614 44920220 - AL353801.2 antisense 0 0 1 0 0 0 0 2 0 ENSG00000234506 chr9 68543541 68546589 - LINC01506 lincRNA 101927015 439 256 335 188 265 233 229 272 174 ENSG00000234509 chr21 31653593 31659500 - AP000253.1 lincRNA 0 0 0 0 0 0 0 0 3 ENSG00000234511 chr5 170232447 170252575 + C5orf58 protein_coding 133874 1279 1181 2221 1118 1371 1892 1521 1119 1602 ENSG00000234512 chr1 33466249 33468954 + TLR12P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234513 chr7 22773646 22773993 - AC073072.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234515 chr6 32879171 32879848 - PPP1R2P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234518 chr1 89104285 89104767 - PTGES3P1 processed_pseudogene 147 121 209 171 230 234 221 98 276 ENSG00000234519 chr6 169067818 169069424 + AL109924.3 lincRNA 102724357 0 0 0 0 0 0 0 0 0 ENSG00000234520 chr7 112954646 112995634 - HRAT17 lincRNA 101928036 0 0 0 0 0 0 0 0 0 ENSG00000234521 chr2 74407797 74413603 - AC005041.2 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234522 chr10 120434983 120440376 + AC073587.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234523 chr1 222945725 222945900 + NDUFB1P2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000234524 chrX 118146063 118146561 + RPL12P43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234527 chr13 66303871 66323561 + PCDH9-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234529 chrY 19327569 19328573 + GAPDHP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234534 chr9 5040945 5041940 + CSNK1G2P1 processed_pseudogene 8 5 4 13 16 0 21 11 19 ENSG00000234535 chr13 33610967 33611522 + AL161719.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234537 chr9 92132398 92138629 + AL354751.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234538 chr21 13839118 13839409 + ZNF114P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234540 chr6 14394326 14404289 + AL080313.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234541 chr10 38713195 38719229 + CHEK2P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234542 chr10 123574227 123583767 + AL357127.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234544 chr10 108296099 108296532 + PTGES3P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234545 chr7 92560793 92590394 - FAM133B protein_coding 257415 GO:0003723, RNA binding, 20 26 42 69 19 58 59 15 17 ENSG00000234546 chr1 9182004 9196284 + LNCTAM34A lincRNA 102724571 0 0 0 0 0 0 0 0 0 ENSG00000234548 chr3 186440345 186450696 + LINC02020 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234551 chr13 103425200 103427685 + LINC01309 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234553 chr5 56536583 56537826 - AC022431.1 sense_intronic 5 5 9 3 0 4 1 5 0 ENSG00000234556 chr10 2305083 2315075 - LINC00701 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234557 chrX 101443707 101444103 - PPIAP90 processed_pseudogene 0 1 1 1 1 7 2 4 4 ENSG00000234558 chrX 116106921 116108430 - API5P1 processed_pseudogene 1 2 0 1 0 1 1 6 2 ENSG00000234559 chr2 129939848 129940217 - RPL22P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234560 chr11 124026798 124030634 + OR10G8 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219869 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000234562 chr3 42145646 42146371 - TPMTP2 processed_pseudogene 2 3 0 0 0 0 0 0 0 ENSG00000234564 chrX 124204499 124205806 - HSPA8P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234565 chr7 149053961 149054173 + COX6B1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234566 chrX 54223324 54224062 + RPL7AP71 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234567 chr6 133452857 133456605 - AL024497.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234568 chr4 82275071 82276600 + BIN2P1 processed_pseudogene 0 0 2 1 0 0 0 1 1 ENSG00000234569 chr10 119621068 119621880 + RAD1P1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000234570 chrX 62878811 62884842 - ZFRP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234571 chr1 143877731 143885076 - AC239798.2 lincRNA 4 14 11 7 10 16 6 13 12 ENSG00000234572 chr2 64846130 64863626 - LINC01800 lincRNA 101927438 1 3 8 1 3 2 5 6 7 ENSG00000234573 chr20 5013520 5013724 - AL121890.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234575 chr9 87844154 87847314 + CTSLP8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234576 chr2 131385700 131386314 - MTND1P26 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234577 chr6 152380546 152381564 + SYNE1-AS1 antisense 11 13 29 1 3 9 2 6 17 ENSG00000234578 chr1 53267935 53268601 + AL355483.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234579 chr2 30986939 30991426 + AC009305.1 antisense 0 0 0 0 2 0 0 0 0 ENSG00000234580 chr10 44591208 44602104 - AL356157.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234583 chrY 6303957 6305074 - TSPY19P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234584 chr2 157725708 157736005 - AC019186.1 lincRNA 0 0 0 4 0 0 0 0 0 ENSG00000234585 chr7 65038354 65074713 + CCT6P3 transcribed_unprocessed_pseudogene 643180 94 254 252 56 126 110 51 83 133 ENSG00000234586 chr9 13021694 13022892 - AL161449.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234587 chr2 35724759 35725142 - MRPL50P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234588 chr2 216805737 216806129 - FABP5P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234589 chr12 3071532 3072145 - AC125807.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234590 chr13 47307082 47307301 + GNG5P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234592 chrX 129041536 129043183 - AL359845.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234593 chr1 14348955 14391575 - KAZN-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234594 chr3 171534423 171534615 + AC008134.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234595 chr2 181683113 181685707 + AC013733.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234597 chr2 19458220 19468961 - AC010096.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234601 chr1 239898016 239899872 - CHRM3-AS1 antisense 100873984 0 0 0 0 0 0 0 0 0 ENSG00000234602 chr5 55219614 55227315 - MCIDAS protein_coding This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]. 345643 GO:0016604, GO:0005730, GO:0005634, GO:0005634, nuclear body, nucleolus, nucleus, nucleus, GO:0042802, GO:0005515, GO:0003713, identical protein binding, protein binding, transcription coactivator activity, GO:1903251, GO:1902017, GO:0098534, GO:0060271, GO:0045944, GO:0045786, GO:0044458, GO:0044458, GO:0008156, GO:0007346, GO:0007049, GO:0006275, multi-ciliated epithelial cell differentiation, regulation of cilium assembly, centriole assembly, cilium assembly, positive regulation of transcription by RNA polymerase II, negative regulation of cell cycle, motile cilium assembly, motile cilium assembly, negative regulation of DNA replication, regulation of mitotic cell cycle, cell cycle, regulation of DNA replication, 0 0 0 0 0 0 0 0 0 ENSG00000234604 chr1 169474060 169474159 - AL021068.2 processed_pseudogene 1 5 0 4 7 1 7 2 6 ENSG00000234607 chr1 15969632 15970194 + AL355994.4 processed_pseudogene 0 2 2 0 2 3 0 0 1 ENSG00000234608 chr12 111839764 111842902 - MAPKAPK5-AS1 lincRNA 51275 46 42 54 61 58 71 52 41 44 ENSG00000234611 chr11 75071148 75072052 - OR2AT2P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234612 chr10 77953495 77953876 + H2AFZP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234613 chrX 45913267 45917040 - AL031584.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234614 chr1 151841877 151850385 + AL450992.2 antisense 2 3 9 7 0 0 7 5 2 ENSG00000234616 chr8 142657460 142681968 - JRK protein_coding This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 8629 GO:1990904, GO:0005737, GO:0005634, GO:0005575, ribonucleoprotein complex, cytoplasm, nucleus, cellular_component, GO:0005515, GO:0003729, GO:0003677, protein binding, mRNA binding, DNA binding, GO:0090263, positive regulation of canonical Wnt signaling pathway, 41 66 75 103 66 99 104 49 75 ENSG00000234617 chr3 43346923 43352152 - SNRK-AS1 antisense 1714 1881 1894 646 1261 989 787 961 859 ENSG00000234618 chr9 76398699 76399586 + RPSAP9 processed_pseudogene 2 0 0 0 2 7 0 0 0 ENSG00000234619 chr1 8750430 8751087 + RPL7P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234620 chrY 15348662 15456074 - PUDPP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234622 chrX 1767347 1768776 + AL683807.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234624 chr2 61416887 61417197 - AC016894.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000234625 chr13 91087254 91089593 - LINC00380 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234626 chr22 32327171 32343105 - AL021937.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234627 chr13 24328211 24329072 + NUS1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234629 chr3 94937086 94938024 - WDR82P1 processed_pseudogene 3 6 0 1 1 0 1 0 8 ENSG00000234630 chr22 22293733 22294794 + AC245060.2 lincRNA 1 6 2 1 0 0 5 5 1 ENSG00000234632 chr2 74350069 74351009 + NECAP1P2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000234634 chr17 13299184 13306771 - LINC02093 lincRNA 105371541 0 0 0 0 0 0 0 0 0 ENSG00000234636 chrX 40735400 40738701 + MED14OS antisense 100873985 31 33 47 17 33 13 15 29 12 ENSG00000234637 chr9 80782338 80782770 - RPS19P6 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000234638 chr2 219425071 219426184 - AC053503.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234639 chr7 138022458 138024339 + AC009263.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234640 chr10 128316282 128320214 - AL390763.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234644 chr9 75724222 75724575 - OTX2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234645 chr2 138288029 138288793 - YWHAEP5 processed_pseudogene 2 2 0 2 3 7 6 3 4 ENSG00000234646 chr20 23031542 23039236 + AL049651.2 sense_overlapping 0 0 0 1 3 1 0 3 1 ENSG00000234647 chr6 168242938 168262581 + AL606970.3 lincRNA 101929420 0 0 0 0 0 0 0 0 0 ENSG00000234648 chr14 98973314 98973471 + AL162151.2 processed_pseudogene 2 1 5 11 3 3 4 1 12 ENSG00000234650 chr13 100464440 100481157 - PCCA-AS1 antisense 0 0 0 0 0 3 0 0 0 ENSG00000234652 chrY 3293808 3294826 + AGPAT5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234653 chr2 76985965 77009791 + AC079117.1 antisense 101927907 0 0 0 0 0 0 0 0 0 ENSG00000234655 chr13 41439834 41440847 - OR7E155P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234658 chr7 138645671 138646448 - AC013429.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234660 chr13 89273203 89280240 + LINC00440 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234661 chr3 363370 385795 - CHL1-AS1 antisense 101927193 0 0 0 0 0 0 0 0 0 ENSG00000234663 chr2 181086076 181409321 + LINC01934 lincRNA 18 3 19 33 1 23 35 12 25 ENSG00000234664 chr15 29730713 29730985 + HMGN2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234665 chr9 62856999 62898087 - AL512625.3 lincRNA 6 0 1 10 0 0 7 0 0 ENSG00000234667 chr3 49873347 49877305 - ACTBP13 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234670 chr12 55522593 55523417 + OR6C64P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234671 chr7 57196638 57197772 + MTCYBP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234675 chr6 148017422 148020974 - AL445123.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234676 chr9 26955780 26956295 - IFT74-AS1 antisense 101929602 0 0 0 0 0 0 0 0 0 ENSG00000234677 chr10 123913574 123931597 - AC068058.1 sense_intronic 0 0 0 2 0 0 0 0 0 ENSG00000234678 chr1 201995696 202010463 - ELF3-AS1 antisense 123 241 160 114 277 107 112 188 120 ENSG00000234680 chr9 39016969 39039594 + VN2R3P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234682 chr2 134797169 134797879 + VDAC2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234683 chr1 81596157 81596506 - AL138799.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234684 chr20 1325405 1378734 + SDCBP2-AS1 antisense 100507495 108 74 169 48 63 51 61 47 55 ENSG00000234685 chr13 22915651 22916523 + NUS1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234686 chr7 49230137 49254816 + AC091730.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234688 chr22 36703918 36721472 + AL049749.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234690 chr2 47192405 47345074 - AC106869.1 lincRNA 101927043 0 0 0 0 0 0 0 1 0 ENSG00000234692 chr9 115252538 115254251 - AL355601.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234693 chr20 50645471 50662275 + AL353653.1 antisense 100506175 0 0 0 0 0 0 0 0 0 ENSG00000234694 chr1 43354684 43358658 - AL139289.2 antisense 5 0 0 0 0 0 0 0 2 ENSG00000234695 chr7 93890913 93893601 + AC002076.1 antisense 105375401 0 0 0 0 0 0 0 0 0 ENSG00000234696 chrX 151175192 151177836 - GPR50-AS1 antisense 100128688 0 0 0 0 0 0 0 0 0 ENSG00000234698 chr20 50166362 50171742 + AL161937.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234699 chr10 103452846 103462695 + AL139339.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234700 chr7 64108625 64110147 - MTCO1P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234701 chr13 38617419 38617940 - PRDX3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234702 chrX 91982655 91983505 - VDAC1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234703 chr21 35136638 35139222 + AF015262.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234705 chr9 128663134 128663578 - HMGA1P4 antisense 13 5 8 3 6 6 2 6 10 ENSG00000234706 chr13 26117548 26118964 - PRUNEP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234707 chr7 54759425 54804928 + AC074351.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234709 chr9 99998301 99999069 - UPF3AP3 transcribed_processed_pseudogene 7 10 15 5 15 15 16 12 2 ENSG00000234710 chr7 9737322 9769513 + AC060834.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234711 chr1 873292 874349 + TUBB8P11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234712 chrX 145232929 145233619 - AL713923.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234713 chr8 43276270 43276823 - AC022616.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234714 chr2 204090457 204109849 + AC009965.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234715 chr7 103445207 103514007 + AC005064.1 antisense 101927870 0 0 1 0 0 0 0 0 0 ENSG00000234716 chr7 56577848 56578866 + AC092447.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234717 chr3 171876352 171900740 - TMEM212-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234718 chr7 7738524 7742574 - AC007161.1 transcribed_processed_pseudogene 4 0 2 2 5 1 0 3 3 ENSG00000234719 chr16 11927373 11976643 - NPIPB2 protein_coding 729978 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, 4 2 8 3 9 23 7 2 9 ENSG00000234720 chr9 39654241 39655531 - ATP5F1AP8 processed_pseudogene 0 1 0 0 0 1 0 1 0 ENSG00000234721 chr17 73786802 73800793 + LINC02092 lincRNA 400620 0 0 0 0 0 0 0 0 0 ENSG00000234722 chr7 153355365 153413981 - LINC01287 lincRNA 103724390 0 0 0 0 0 0 0 0 0 ENSG00000234723 chr3 22670201 22670711 - AC092421.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234724 chr10 94137748 94139500 + HDAC1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234726 chr22 22228719 22230469 - AC245060.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234730 chr21 21566763 21615437 + AP001117.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234731 chr2 201554096 201554390 + MTND4LP16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234732 chr2 161931199 161931466 - RPEP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234735 chr22 43092167 43092524 + AL022237.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234736 chr10 49121839 49151547 + FAM170B-AS1 antisense 100506733 1 0 0 2 1 0 0 3 0 ENSG00000234737 chr3 32258940 32260230 + KRT18P15 processed_pseudogene 0 0 2 1 2 7 0 0 7 ENSG00000234740 chr9 13274510 13279187 - AL162386.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000234741 chr1 173863900 173868882 - GAS5 processed_transcript This gene produces a spliced long non-coding RNA and is a member of the 5' terminal oligo-pyrimidine class of genes. It is a small nucleolar RNA host gene, containing multiple C/D box snoRNA genes in its introns. Part of the secondary RNA structure of the encoded transcript mimics glucocorticoid response element (GRE) which means it can bind to the DNA binding domain of the glucocorticoid receptor (nuclear receptor subfamily 3, group C, member 1). This action blocks the glucocorticoid receptor from being activated and thereby stops it from regulating the transcription of its target genes. This transcript is also thought to regulate the transcriptional activity of other receptors, such as androgen, progesterone and mineralocorticoid receptors, that can bind to its GRE mimic region. Multiple functions have been associated with this transcript, including cellular growth arrest and apoptosis. It has also been identified as a potential tumor suppressor, with its down-regulation associated with cancer in multiple different tissues. [provided by RefSeq, Mar 2015]. 60674 139 145 197 1599 1635 1475 867 499 814 ENSG00000234742 chr3 197850400 197850954 - AC144530.1 processed_pseudogene 1 5 4 6 5 2 6 2 8 ENSG00000234743 chr10 80247219 80247683 - EIF5AP4 processed_pseudogene 9 11 11 14 8 15 4 9 3 ENSG00000234744 chrY 26002254 26008856 + USP9YP26 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234745 chr6 31269491 31357188 - HLA-B protein_coding HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]. 3106 GO:0071556, GO:0070062, GO:0055038, GO:0042612, GO:0031901, GO:0030670, GO:0030667, GO:0016020, GO:0016020, GO:0012507, GO:0009986, GO:0009986, GO:0005887, GO:0005886, GO:0005794, GO:0005783, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, extracellular exosome, recycling endosome membrane, MHC class I protein complex, early endosome membrane, phagocytic vesicle membrane, secretory granule membrane, membrane, membrane, ER to Golgi transport vesicle membrane, cell surface, cell surface, integral component of plasma membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, Golgi membrane, GO:0051087, GO:0046977, GO:0046977, GO:0042605, GO:0005515, GO:0005102, chaperone binding, TAP binding, TAP binding, peptide antigen binding, protein binding, signaling receptor binding, GO:2001198, GO:0060337, GO:0060333, GO:0050776, GO:0043312, GO:0042270, GO:0032675, GO:0032655, GO:0016045, GO:0016032, GO:0006955, GO:0006955, GO:0006952, GO:0002667, GO:0002486, GO:0002480, GO:0002479, GO:0002474, GO:0002250, GO:0001916, regulation of dendritic cell differentiation, type I interferon signaling pathway, interferon-gamma-mediated signaling pathway, regulation of immune response, neutrophil degranulation, protection from natural killer cell mediated cytotoxicity, regulation of interleukin-6 production, regulation of interleukin-12 production, detection of bacterium, viral process, immune response, immune response, defense response, regulation of T cell anergy, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of peptide antigen via MHC class I, adaptive immune response, positive regulation of T cell mediated cytotoxicity, 77099 1493 21036 84662 4944 20189 87651 3860 15011 ENSG00000234748 chrX 146537535 146538048 + AL109913.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234749 chr8 7564350 7567360 - FAM90A21P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234750 chr19 12284337 12285185 + AC012618.2 processed_pseudogene 22 12 19 19 15 39 28 13 11 ENSG00000234751 chr11 72940498 72941112 + AP002381.1 processed_pseudogene 1 3 0 2 2 4 3 4 0 ENSG00000234752 chr10 8897989 8914596 + AC044784.2 lincRNA 105755953 0 0 0 0 0 0 0 0 0 ENSG00000234753 chr6 41494853 41548621 - FOXP4-AS1 antisense 101060264 0 0 2 0 0 0 1 0 3 ENSG00000234754 chr1 221330080 221336296 - C1orf140 lincRNA 400804 0 0 0 0 0 0 0 0 0 ENSG00000234756 chr10 62289521 62304033 + AC024597.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234758 chr5 131944408 131968220 + AC034228.3 antisense 1 0 2 9 0 7 9 2 4 ENSG00000234761 chr1 202986557 202988582 - AC096632.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234763 chr6 8341937 8343021 - AL359378.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234764 chr22 18833694 18834438 + E2F6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234765 chr13 68289679 68291280 - ELL2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234766 chrX 51502090 51511005 - LINC01496 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234767 chr13 65866174 65878219 + LINC01052 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234768 chr6 168194358 168204501 + AL611929.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234769 chr16 14381 18068 - WASH4P unprocessed_pseudogene 5 3 12 5 11 1 15 10 0 ENSG00000234770 chr8 27560274 27589073 + GULOP unitary_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000234771 chr9 128108581 128118693 - SLC25A25-AS1 antisense 23 54 56 70 43 99 63 48 64 ENSG00000234772 chr13 27236282 27236811 - LINC00412 antisense 0 0 1 0 0 0 0 0 0 ENSG00000234773 chr19 12195015 12237767 + AC012618.3 transcribed_unprocessed_pseudogene 5 2 1 2 1 5 5 0 5 ENSG00000234775 chr1 203127259 203127954 - AC105940.2 antisense 0 0 1 0 1 0 0 0 0 ENSG00000234776 chr11 45906513 45907282 - C11orf94 protein_coding 143678 GO:0005576, extracellular region, 2 5 0 8 7 9 4 8 3 ENSG00000234777 chr6 159383443 159401146 + LINC02529 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234779 chr9 16726814 16727524 + BNC2-AS1 antisense 111216284 0 0 0 0 0 0 0 0 0 ENSG00000234780 chrX 48197221 48199431 + AC245047.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234781 chr2 104488458 104510509 - LINC01103 lincRNA 101927360 0 0 0 0 0 0 0 0 0 ENSG00000234782 chr9 118082869 118083382 - TPT1P9 processed_pseudogene 1 1 2 3 4 1 2 2 2 ENSG00000234784 chr1 64918443 64918683 + AL606517.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000234785 chrX 115702811 115704120 + EEF1GP5 processed_pseudogene 0 0 0 0 0 1 0 0 2 ENSG00000234787 chr13 54115783 54132866 - LINC00458 lincRNA 100507428 0 0 0 0 0 0 0 0 0 ENSG00000234788 chr10 26714622 26715832 + HSPA8P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234789 chr9 129640476 129641282 + AL590369.1 antisense 8 28 21 10 19 16 13 24 9 ENSG00000234790 chr1 112748095 112748475 + NUTF2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234791 chr11 3189546 3189929 + AC108448.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234792 chrX 52612656 52613523 + AL450023.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234793 chr2 241754793 241755740 - AC114730.2 antisense 6 9 15 11 9 16 5 8 14 ENSG00000234795 chrY 7712985 7809261 - RFTN1P1 transcribed_unprocessed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000234796 chr2 910926 921124 - AC113607.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234797 chr15 59768352 59769146 + RPS3AP6 processed_pseudogene 18 29 28 58 15 45 36 19 60 ENSG00000234800 chr7 23721311 23721782 - PCMTD1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234801 chr4 173615936 173616906 - MORF4 processed_pseudogene 2 2 5 0 4 1 6 8 1 ENSG00000234803 chrY 9517599 9526897 - FAM197Y2 transcribed_unprocessed_pseudogene 252946 0 0 0 0 0 0 0 0 0 ENSG00000234805 chr3 194755589 194757422 + AC090505.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234806 chr10 68424560 68424997 + RPL26P29 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000234807 chr1 58785128 58901105 + LINC01135 lincRNA 0 0 0 6 0 9 9 4 8 ENSG00000234810 chr1 55329288 56070513 + AL603840.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234811 chr10 32111644 32111789 - AL161932.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234812 chr9 40291275 40291502 - BX664727.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234813 chr10 18940501 18940953 + AL357520.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234814 chr10 30655489 30717266 + SVIL2P transcribed_unprocessed_pseudogene 11 8 14 6 7 6 12 10 5 ENSG00000234816 chr6 26043989 26044357 + HIST1H2APS5 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000234817 chr6 4136072 4157385 + AL136309.2 lincRNA 100507506 0 0 1 0 3 4 2 0 0 ENSG00000234818 chr2 10589166 10604830 + AC007314.1 antisense 18 6 15 20 4 14 15 4 2 ENSG00000234819 chr9 78219120 78219357 + AL353705.4 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000234821 chr20 52511252 52511568 + MRPS33P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234825 chrX 150231075 150232896 - XRCC6P2 processed_pseudogene 0 1 0 0 1 1 0 0 0 ENSG00000234826 chr7 117998858 118004045 - AC003084.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234828 chr4 149351903 149896233 - IQCM protein_coding 285423 0 0 0 0 0 0 0 0 0 ENSG00000234829 chr9 21227243 21228222 - IFNA17 protein_coding 3451 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005132, GO:0005125, type I interferon receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0009615, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, response to virus, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 2 0 0 0 0 0 ENSG00000234830 chrY 6256267 6263953 - FAM197Y9 transcribed_unprocessed_pseudogene 100132932 0 0 0 0 0 0 0 0 0 ENSG00000234832 chr20 23346941 23351486 - AL096677.1 antisense 0 0 3 6 7 10 5 7 6 ENSG00000234835 chr13 35251070 35251829 + PHBP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234837 chr2 94750582 94751293 + AC073464.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234838 chr5 66572057 66572546 + PPIAP78 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234839 chr7 20843627 20843961 + RPS26P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234840 chr9 22646200 22824213 + LINC01239 lincRNA 441389 0 0 0 0 0 0 0 0 0 ENSG00000234841 chr4 112826307 112827607 + AC017007.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234842 chr2 201549631 201550307 + MTCO2P16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234844 chr7 55638274 55638842 - CDC42P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234848 chr19 12450935 12460705 + AC008758.2 antisense 0 0 0 0 2 0 0 0 1 ENSG00000234850 chrY 8372241 8372710 + MTND2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234851 chr3 161429127 161429597 - RPL23AP42 processed_pseudogene 40 54 80 127 55 168 84 95 84 ENSG00000234853 chr9 19383217 19383887 - NDUFA5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234854 chr13 109728282 109730007 + LINC00676 antisense 101409253 1 0 0 1 0 0 0 0 0 ENSG00000234855 chr10 97102756 97103747 + SLIT1-AS1 antisense 100505540 1 0 0 0 0 0 2 0 0 ENSG00000234857 chr11 62690275 62727384 - HNRNPUL2-BSCL2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000234859 chr17 41402416 41425049 + AC003958.2 antisense 100505782 0 0 0 0 0 0 0 0 0 ENSG00000234860 chr9 99531696 99536924 + AL162394.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234861 chr9 42410830 42412150 - ATP5F1AP1 processed_pseudogene 0 1 0 0 3 0 0 0 0 ENSG00000234862 chr20 22220554 22223283 + AL035258.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234863 chr1 220455154 220455312 - AC096644.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234864 chr10 42696035 42706453 + AL022344.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234865 chr5 23980587 23980938 + AC026784.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234869 chr22 46541495 46548196 + AL021392.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234872 chr1 240654241 240654625 + AL358176.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234877 chr2 78597911 78599406 + AC092660.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234878 chr20 39932922 39933239 - HSPE1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234880 chr21 44989864 44994086 - LINC00163 lincRNA 727699 2 0 1 0 4 5 0 0 1 ENSG00000234881 chr9 123843036 123843686 + PIGFP2 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000234882 chr6 73291962 73293277 + EIF3EP1 processed_pseudogene 0 0 1 2 0 0 0 0 0 ENSG00000234883 chr21 25561909 25575168 + MIR155HG lincRNA This gene represents a microRNA host gene. The long RNA transcribed from this gene is expressed at high levels in lymphoma and may function as an oncogene. [provided by RefSeq, Dec 2017]. 114614 GO:0035195, gene silencing by miRNA, 2 2 17 18 1 23 16 4 33 ENSG00000234884 chr22 25561117 25564462 - AL022329.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234886 chrX 102803041 102806138 + MTND5P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234888 chrY 26055779 26088493 - OFD1P15Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234889 chrX 97975878 97978641 - AL391666.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234890 chr2 158419955 158425303 + HNRNPDLP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234891 chr22 34703126 34704885 - Z82196.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234892 chr22 43232141 43239010 + Z82214.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234894 chr13 19151554 19152307 - AL139327.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234895 chr11 6066873 6067786 - OR52X1P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234896 chr2 71055527 71056003 + OR7E62P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234898 chr2 91957436 91963610 + CHEK2P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234899 chr17 72034107 72237203 - SOX9-AS1 processed_transcript 400618 0 0 0 1 0 0 0 0 0 ENSG00000234900 chr20 10753278 10765286 - AL135937.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000234901 chrX 102008524 102009046 - MTND6P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234902 chr2 207186717 207236066 - AC007879.3 lincRNA 20 30 32 38 40 26 33 25 27 ENSG00000234903 chr2 95468863 95469778 - AC133104.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234906 chr19 44945982 44949565 + APOC2 protein_coding This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]. 344 GO:0042627, GO:0042627, GO:0034366, GO:0034366, GO:0034363, GO:0034363, GO:0034362, GO:0034362, GO:0034361, GO:0034361, GO:0005769, GO:0005615, GO:0005576, GO:0005576, chylomicron, chylomicron, spherical high-density lipoprotein particle, spherical high-density lipoprotein particle, intermediate-density lipoprotein particle, intermediate-density lipoprotein particle, low-density lipoprotein particle, low-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, early endosome, extracellular space, extracellular region, extracellular region, GO:0060230, GO:0060230, GO:0055102, GO:0043274, GO:0043274, GO:0016004, GO:0016004, GO:0008289, GO:0008289, GO:0005515, lipoprotein lipase activator activity, lipoprotein lipase activator activity, lipase inhibitor activity, phospholipase binding, phospholipase binding, phospholipase activator activity, phospholipase activator activity, lipid binding, lipid binding, protein binding, GO:0070328, GO:0060697, GO:0060697, GO:0051006, GO:0051006, GO:0048261, GO:0045833, GO:0045723, GO:0043691, GO:0043086, GO:0042953, GO:0042632, GO:0042493, GO:0034384, GO:0034384, GO:0034382, GO:0034382, GO:0034378, GO:0034375, GO:0034372, GO:0034371, GO:0034371, GO:0034370, GO:0033700, GO:0033344, GO:0032375, GO:0016042, GO:0010916, GO:0010916, GO:0010902, GO:0010898, GO:0010518, GO:0010518, GO:0001523, triglyceride homeostasis, positive regulation of phospholipid catabolic process, positive regulation of phospholipid catabolic process, positive regulation of lipoprotein lipase activity, positive regulation of lipoprotein lipase activity, negative regulation of receptor-mediated endocytosis, negative regulation of lipid metabolic process, positive regulation of fatty acid biosynthetic process, reverse cholesterol transport, negative regulation of catalytic activity, lipoprotein transport, cholesterol homeostasis, response to drug, high-density lipoprotein particle clearance, high-density lipoprotein particle clearance, chylomicron remnant clearance, chylomicron remnant clearance, chylomicron assembly, high-density lipoprotein particle remodeling, very-low-density lipoprotein particle remodeling, chylomicron remodeling, chylomicron remodeling, triglyceride-rich lipoprotein particle remodeling, phospholipid efflux, cholesterol efflux, negative regulation of cholesterol transport, lipid catabolic process, negative regulation of very-low-density lipoprotein particle clearance, negative regulation of very-low-density lipoprotein particle clearance, positive regulation of very-low-density lipoprotein particle remodeling, positive regulation of triglyceride catabolic process, positive regulation of phospholipase activity, positive regulation of phospholipase activity, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000234907 chr9 132962511 132962667 + AL593851.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234910 chr9 90081297 90082569 - IL6RP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234911 chr14 64341673 64387986 - TEX21P transcribed_unitary_pseudogene 0 0 1 1 2 0 0 0 4 ENSG00000234912 chr17 77086716 77099902 + SNHG20 sense_overlapping 654434 66 101 60 111 99 120 164 104 128 ENSG00000234913 chr22 18004270 18007308 - AC016027.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000234915 chr1 212299495 212331713 - AL360091.3 antisense 2 0 5 0 0 0 0 0 0 ENSG00000234917 chr1 42678735 42681659 + AC098484.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234918 chr10 37240887 37242049 + AL157387.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234919 chr2 195569628 195572970 - LINC01827 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000234921 chr9 124031624 124032524 - AC006450.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234922 chr7 25265924 25266290 - TSEN15P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234925 chr12 68642519 68642993 - ATP5PDP4 processed_pseudogene 18 21 13 16 22 24 25 11 19 ENSG00000234927 chr7 121050927 121051203 + HMGN1P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234928 chr22 23433564 23435071 + LINC01659 lincRNA 101929374 0 0 0 0 0 0 0 0 0 ENSG00000234929 chr2 2641989 2656630 - AC018685.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234931 chr10 83311628 83314475 - MARK2P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234932 chr2 152850653 152850824 - AC009969.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234933 chr20 34402149 34402696 - CDC42P1 processed_pseudogene 2 0 1 0 0 0 0 0 0 ENSG00000234934 chr2 130280299 130282105 + MTND5P29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234936 chr2 43229573 43233394 + AC010883.1 antisense 13 18 22 12 33 14 35 30 21 ENSG00000234937 chr1 155845367 155846624 + AL139128.1 processed_pseudogene 1 2 4 0 1 4 1 1 10 ENSG00000234938 chr2 215530447 215545526 - AC012668.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234939 chr2 131384461 131385490 - MTND2P18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234940 chr2 144688413 144690185 - AC023128.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234941 chr10 38250442 38250603 - AL117339.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234942 chr10 85577731 85607213 + GRID1-AS1 antisense 100507470 0 0 0 0 0 0 0 0 0 ENSG00000234943 chr2 54545368 54546677 - AC092839.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234944 chr10 42871521 42874060 + AL365199.1 lincRNA 101929445 0 0 0 0 0 0 0 0 0 ENSG00000234945 chr2 27335535 27342599 + GTF3C2-AS1 antisense 100505624 45 89 72 40 51 93 55 56 68 ENSG00000234946 chr2 23943846 23944351 + SDHCP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234948 chr20 52210645 52650431 + LINC01524 lincRNA 101927700 0 0 0 0 0 0 0 0 0 ENSG00000234949 chr2 237591020 237595981 + AC104667.2 antisense 105373958 0 0 0 0 0 0 0 0 0 ENSG00000234950 chrY 9951553 9959423 + RBMY2OP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234952 chr10 117735313 117736407 + AL139121.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234953 chr1 81513880 81557702 - AL138799.4 antisense 101927434 0 0 0 0 0 0 0 0 0 ENSG00000234956 chr6 137730170 137792835 - LINC02539 lincRNA 100507406 0 0 0 0 0 0 0 0 0 ENSG00000234958 chrX 523775 524102 - FABP5P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234961 chr10 17233325 17234833 - AL133415.1 antisense 2152 2004 2701 1174 1659 2348 1518 1727 1869 ENSG00000234962 chr10 2005473 2014348 - LINC00700 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234964 chr11 59781318 59781722 - FABP5P7 processed_pseudogene 6 6 8 6 12 20 9 9 11 ENSG00000234965 chr22 41909554 41914667 - SHISA8 protein_coding 440829 GO:0045211, GO:0032591, GO:0032281, GO:0014069, postsynaptic membrane, dendritic spine membrane, AMPA glutamate receptor complex, postsynaptic density, GO:2000311, GO:0048172, regulation of AMPA receptor activity, regulation of short-term neuronal synaptic plasticity, 1 0 0 4 1 0 0 1 0 ENSG00000234967 chr20 47950799 47952055 + AL357558.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234969 chrX 74069276 74070832 + AL627389.1 processed_pseudogene 1 0 0 0 1 0 0 0 0 ENSG00000234973 chr10 43777562 43778825 - AL355989.1 lincRNA 102724264 0 0 0 0 0 0 0 0 0 ENSG00000234975 chr1 228687415 228687826 + FTH1P2 processed_pseudogene 168 215 226 145 205 186 163 252 147 ENSG00000234977 chr7 1691906 1692450 - AC074389.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234979 chr22 36816326 36819736 + Z82185.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000234981 chr1 206528915 206529706 + AC244034.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234982 chr9 14204248 14205039 + AL441963.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234983 chr7 42918741 42920084 + AC010132.2 processed_pseudogene 10 12 15 6 10 4 4 3 13 ENSG00000234984 chr1 166665885 166682196 + FMO10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234985 chr7 121440834 121441261 - AC074085.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234986 chr6 170695313 170696950 + AL731661.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234988 chr2 100607028 100609358 + LINC01849 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000234993 chr10 45232026 45247361 - CUBNP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000234995 chr7 138490581 138491361 - AC013429.2 processed_pseudogene 0 1 0 0 3 0 0 0 0 ENSG00000234996 chr1 202861754 202875241 + AC098934.2 transcribed_processed_pseudogene 148709 2 2 1 1 5 7 8 3 3 ENSG00000234997 chr2 113424495 113425324 + AC016745.1 antisense 0 0 0 0 0 6 1 0 0 ENSG00000234998 chr1 121087528 121116676 - AC244453.3 antisense 32 45 45 23 23 36 6 22 30 ENSG00000234999 chr7 24906135 24906594 - SNRPCP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235001 chrY 5337745 5338964 - EIF4A1P2 processed_pseudogene 4 3 3 0 1 5 8 5 4 ENSG00000235002 chr1 42412398 42412794 - AL513331.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235004 chrY 25723016 25724186 + USP9YP30 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235005 chr1 109884176 109886264 - AL450468.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000235007 chr9 129258354 129259846 + AL161785.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235008 chr6 166701094 166702839 - AL023775.1 processed_pseudogene 3 2 0 0 1 0 1 0 0 ENSG00000235009 chr2 38431294 38433573 + LINC01883 lincRNA 100996902 0 0 0 0 0 0 0 0 0 ENSG00000235010 chr10 132181225 132185962 - AL512622.1 antisense 0 1 0 3 0 0 0 3 0 ENSG00000235011 chr1 79323769 79324863 + AL353651.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235012 chr21 39525583 39529855 + AF121897.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235013 chr2 230957593 230957950 + COX20P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235014 chrY 26198331 26208148 - REREP2Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235015 chr1 153717303 153718347 - GEMIN2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235016 chr3 50116022 50156085 - SEMA3F-AS1 antisense 100129060 506 648 771 766 1011 972 780 632 740 ENSG00000235018 chr20 62037429 62037956 - AL137077.1 processed_pseudogene 2 2 4 1 0 1 2 0 3 ENSG00000235020 chr10 18206127 18261194 - AL390783.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000235021 chr1 246690047 246691821 + AL591848.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235023 chr21 42648271 42651244 - AP001626.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235024 chr2 218944629 218961903 - AC097468.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235026 chr2 115130935 115161343 - DPP10-AS1 antisense 389023 0 0 0 0 0 0 0 0 0 ENSG00000235027 chr11 1760348 1762486 + AC068580.3 antisense 734 1091 1176 380 676 443 520 773 410 ENSG00000235028 chr18 58018794 58019061 - HMGN1P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235029 chr7 157006307 157007132 + MNX1-AS2 antisense 105375606 0 0 0 0 0 0 0 0 0 ENSG00000235032 chr20 57214872 57215866 + BMP7-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235033 chr6 39881804 39900071 - AL590999.1 antisense 100505635 29 22 68 13 21 33 29 10 21 ENSG00000235034 chr19 50649445 50659310 + C19orf81 protein_coding 342918 0 0 0 0 0 0 0 0 0 ENSG00000235035 chr2 70687142 70691824 + AC005234.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235036 chr20 10612861 10614229 - AL035456.1 processed_pseudogene 13 12 19 20 21 10 8 8 12 ENSG00000235038 chr1 58060139 58080274 + AL445193.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235039 chrX 5168918 5169439 - MTND6P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235040 chr6 32706124 32706955 - MTCO3P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235042 chr2 216385288 216412696 - AC098820.2 antisense 5 0 5 0 0 7 0 1 0 ENSG00000235043 chr4 86949669 86950113 - TECRP1 processed_pseudogene 1 2 2 10 9 4 3 4 2 ENSG00000235044 chr20 37530039 37530543 + PPIAP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235045 chr1 109651370 109652099 + RPL7P8 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000235047 chr2 175897336 175904232 + AC016751.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235049 chr12 1929202 1936574 - LINC00940 lincRNA 100271702 0 0 0 0 1 0 0 2 0 ENSG00000235050 chr6 53978549 54079726 - MLIP-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235051 chr6 10881780 10884349 + AL357497.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235052 chr1 23549139 23550915 - AL021154.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000235054 chr1 4412027 4424689 + LINC01777 lincRNA 284661 0 0 0 2 0 0 0 0 0 ENSG00000235055 chr1 68043330 68044233 + AL157407.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235056 chr2 195003711 195026370 - AC010983.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235058 chr3 50341106 50345697 + ZMYND10-AS1 antisense 2 0 3 4 7 0 0 1 4 ENSG00000235059 chrY 22438940 22485592 + AC008175.1 lincRNA 101929148 0 0 0 0 0 0 0 0 0 ENSG00000235060 chr1 180434800 180435936 + VDAC1P4 processed_pseudogene 0 1 2 0 0 0 0 0 0 ENSG00000235061 chrX 78554412 78554751 - UBE2V1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235062 chr22 20697962 20698934 - BCRP5 unprocessed_pseudogene 0 1 0 2 0 0 0 0 0 ENSG00000235064 chr2 33839782 33840678 - SLC25A5P2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000235065 chr20 21114723 21115197 + RPL24P2 processed_pseudogene 1 1 0 4 2 4 5 1 2 ENSG00000235066 chr2 117995397 118055033 + AC009303.2 antisense 18 33 36 50 67 69 63 34 56 ENSG00000235069 chr1 26647447 26647681 + AL627082.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235070 chr2 226180044 226185371 - AC062015.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235071 chrX 16474342 16475340 - AC073909.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235072 chr2 25369136 25375845 - AC012074.1 lincRNA 1 0 0 1 6 4 6 2 0 ENSG00000235076 chr13 21358373 21359314 + GAPDHP52 processed_pseudogene 0 5 0 0 0 7 0 0 0 ENSG00000235077 chr7 100130964 100140439 + AC073842.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000235078 chr2 3519275 3523197 + AC231981.1 antisense 63 56 50 24 41 20 34 39 11 ENSG00000235079 chr1 71048855 71067184 + ZRANB2-AS1 antisense 72 78 78 95 55 57 98 42 61 ENSG00000235080 chr2 131370306 131372075 - MTND5P23 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235081 chr19 54229036 54230213 + AC245052.3 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000235082 chr1 160317403 160317706 + SUMO1P3 processed_pseudogene 10 15 13 7 2 5 2 8 7 ENSG00000235083 chr1 188671353 188671759 + AL929288.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235084 chr1 15604597 15605043 + CHCHD2P6 processed_pseudogene 1 4 1 0 2 0 1 4 5 ENSG00000235085 chr17 4673830 4696831 + AC091153.2 antisense 1 1 1 0 1 4 0 0 0 ENSG00000235086 chr6 159240786 159243329 + FNDC1-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000235088 chr20 41459354 41461944 - AL031667.2 processed_pseudogene 0 0 0 0 0 0 1 0 1 ENSG00000235089 chr1 81208568 81209210 + AL357632.1 processed_pseudogene 1 0 0 0 0 0 0 1 0 ENSG00000235090 chr7 75922755 75923443 + RPL7L1P3 processed_pseudogene 3 0 6 4 5 11 9 6 14 ENSG00000235091 chr22 45875999 45891438 - BX324167.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235092 chr2 8666636 8681863 - ID2-AS1 antisense 1 3 3 0 1 4 0 0 0 ENSG00000235094 chrY 6306042 6307920 + AC006335.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235095 chr7 57147986 57150347 - AC099654.2 unprocessed_pseudogene 3 0 3 2 0 1 3 0 1 ENSG00000235096 chr1 246025897 246035603 + AC118555.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235097 chr13 44799503 44809630 - LINC00330 lincRNA 144817 0 0 0 0 0 0 0 0 0 ENSG00000235098 chr1 1418420 1421769 - ANKRD65 protein_coding 441869 0 0 0 1 0 0 0 0 0 ENSG00000235099 chr6 93070387 93103384 + AL138731.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235100 chr10 89667181 89699671 - AL157400.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235101 chr1 160670148 160670979 + SETP9 transcribed_processed_pseudogene 1 2 0 5 0 2 2 0 0 ENSG00000235102 chr20 41331123 41331660 + ADI1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235105 chr1 48435967 48437223 + AL356968.2 processed_pseudogene 3 1 4 2 4 6 6 4 0 ENSG00000235106 chr9 134025439 134034666 + BRD3OS protein_coding 266655 45 54 66 47 136 117 50 96 26 ENSG00000235108 chr9 21403081 21403651 + IFNA12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235109 chr6 28324693 28356271 - ZSCAN31 protein_coding This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 64288 GO:0000785, chromatin, GO:1990837, GO:0046872, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 3 2 5 12 2 7 3 0 5 ENSG00000235110 chr3 143855739 143856142 - AC107421.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235111 chr22 49612657 49615716 - Z97192.3 sense_intronic 12 9 13 10 15 16 16 6 13 ENSG00000235112 chr1 21161475 21162081 + HSPE1P27 processed_pseudogene 0 1 3 0 0 8 0 0 0 ENSG00000235113 chr10 32109861 32111666 + AL161932.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235115 chr13 28107431 28107877 + CHCHD2P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235118 chr2 206642412 206649011 + FAM237A protein_coding 200726 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000235119 chr9 114396724 114398503 - AL138895.1 lincRNA 5 0 4 0 0 0 2 1 4 ENSG00000235120 chr3 49640483 49641769 - BSN-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235121 chr1 201723294 201737506 - AL645504.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235122 chr6 49817430 49820442 + AL121974.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235123 chr21 40383083 40385358 + DSCAM-AS1 antisense 100506492 0 0 0 0 0 0 0 0 0 ENSG00000235124 chrX 57984686 57986133 + KRT8P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235126 chr3 197445061 197458323 - AC128709.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235127 chr2 14886647 14907664 - AC068286.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235128 chr2 126679622 126680420 + AC013474.1 processed_pseudogene 0 1 2 0 0 7 3 6 2 ENSG00000235129 chr2 95368507 95368885 - FABP7P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235131 chr1 3712200 3714298 - AL136528.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235133 chr9 117685254 117685588 - RPL35AP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235136 chrX 55599663 55600106 - AL627224.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235137 chr13 96883842 96885821 - HSP90AB6P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235138 chr9 134054290 134058805 + AL445931.1 antisense 100130548 2 0 3 6 3 2 11 7 0 ENSG00000235139 chr7 84532476 84584322 + AC003984.1 lincRNA 101927378 0 0 0 0 0 0 0 0 0 ENSG00000235140 chr10 59578467 59650345 + AC026391.1 lincRNA 105378318 0 0 0 0 0 0 0 0 0 ENSG00000235141 chr10 7295106 7295290 - COX6CP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235142 chr6 106717452 106787541 - LINC02532 lincRNA 100422737 0 0 0 0 0 0 0 0 0 ENSG00000235143 chr1 30858158 30860254 + AL445235.1 antisense 0 0 0 3 0 0 0 0 0 ENSG00000235145 chr1 179968686 179969506 + RPSAP16 processed_pseudogene 0 0 1 6 1 0 1 1 2 ENSG00000235146 chr1 587629 594768 + AC114498.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235147 chr2 92006680 92007121 - AC128677.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235148 chr9 31644576 31645160 - HMGB3P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235149 chr4 185918140 185919460 + AC096659.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235150 chr10 88785600 88787061 - RCBTB2P1 processed_pseudogene 1 1 5 1 2 1 0 2 3 ENSG00000235151 chr2 241844380 241845036 + AC131097.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235152 chr1 232160091 232185643 + AL353052.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235154 chr22 48044710 48048549 - FP325330.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235156 chr3 100185687 100211766 + TMEM30CP transcribed_unitary_pseudogene 644444 GO:0016021, GO:0005886, GO:0005794, GO:0005783, integral component of membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum, GO:0045332, phospholipid translocation, 0 0 0 0 0 0 0 0 0 ENSG00000235158 chr3 1008135 1012934 + AC087430.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000235159 chr22 46067356 46069891 - AL121672.2 lincRNA 0 0 3 0 5 0 1 3 0 ENSG00000235160 chr15 26395072 26446774 + LINC02248 lincRNA 107984780 0 0 0 0 0 0 0 0 0 ENSG00000235162 chr12 105235290 105396097 + C12orf75 protein_coding 387882 16 13 34 59 20 139 42 30 76 ENSG00000235163 chr1 220448516 220448853 + AC096644.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235165 chr8 122769274 122770150 + CDK5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235166 chr20 55408898 55482777 + LINC01440 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000235168 chr6 149561152 149563949 + AL078581.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235169 chr1 3772761 3775982 + SMIM1 protein_coding This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]. 388588 GO:0016021, GO:0009986, GO:0009986, GO:0005886, GO:0005886, integral component of membrane, cell surface, cell surface, plasma membrane, plasma membrane, GO:0042803, GO:0005515, protein homodimerization activity, protein binding, 1 2 3 0 4 0 0 3 0 ENSG00000235170 chrX 62842542 62843502 + MTND1P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235172 chr5 170331429 170333879 + LINC01366 lincRNA 257358 111 142 99 299 288 425 402 347 404 ENSG00000235173 chr8 144137769 144140843 + HGH1 protein_coding 51236 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 1 3 4 12 0 38 16 8 16 ENSG00000235174 chr6 73373108 73373263 - RPL39P3 processed_pseudogene 35 38 56 83 38 76 78 27 36 ENSG00000235175 chrY 5793300 5793737 - RPL26P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235180 chr10 126413869 126421879 - LINC00601 lincRNA 101101772 0 0 0 0 0 0 0 0 0 ENSG00000235181 chr19 54551970 54552256 + AC245036.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235182 chr1 212853280 212853426 + AC104333.1 processed_pseudogene 0 1 0 0 2 1 0 0 0 ENSG00000235183 chr17 49795343 49795669 + SRP14P3 processed_pseudogene 1 1 0 0 2 10 4 1 0 ENSG00000235185 chr1 19591802 19596832 - AL031727.2 antisense 105378614 0 0 0 0 0 0 0 0 2 ENSG00000235186 chr2 94991880 94994362 + AC103563.8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235189 chrX 129869064 129957528 - AL034405.1 antisense 0 0 0 1 2 0 0 1 0 ENSG00000235190 chrX 131937670 131937853 + AL008629.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235191 chr19 48910930 48918891 - NUCB1-AS1 antisense 100874085 291 293 386 74 151 128 106 158 120 ENSG00000235192 chr2 165794851 165810010 + AC009495.3 lincRNA 20 11 24 23 22 13 25 12 12 ENSG00000235193 chrY 10088026 10089586 + AC006987.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235194 chr14 23295643 23302848 - PPP1R3E protein_coding 90673 GO:0042587, GO:0000164, glycogen granule, protein phosphatase type 1 complex, GO:2001069, GO:0050196, GO:0008157, glycogen binding, [phosphorylase] phosphatase activity, protein phosphatase 1 binding, GO:0045725, GO:0006470, GO:0005979, GO:0005977, positive regulation of glycogen biosynthetic process, protein dephosphorylation, regulation of glycogen biosynthetic process, glycogen metabolic process, 117 206 90 957 1020 1168 1078 875 743 ENSG00000235196 chrX 101911529 101912072 + Z68868.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235197 chr10 37894637 37896666 + ZNF33CP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235198 chr10 117562084 117572457 - AC005871.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235199 chr10 94865852 94873129 - CYP2C58P processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000235200 chr1 67522347 67532612 + LINC01702 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235201 chr9 118740563 118745312 + LINC02578 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235202 chr1 117295520 117321336 + LINC01525 lincRNA 104355292 0 0 0 0 0 0 0 0 0 ENSG00000235203 chr17 20543481 20550963 - TBC1D3P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235204 chr9 124259250 124261156 - AL162724.2 antisense 0 0 7 1 4 2 0 4 0 ENSG00000235205 chr13 23243520 23247184 + TATDN2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235207 chr7 55645620 55646951 + TUBBP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235208 chr20 16684108 16684404 - AL135938.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235209 chr22 38921227 38924708 + AL022318.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235211 chrX 18341216 18341346 + TMSB10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235213 chr14 22702143 22703065 + OR6E1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235214 chr20 35285251 35285756 + FAM83C-AS1 antisense 140846 0 0 0 2 0 0 0 2 0 ENSG00000235215 chr1 59055999 59078116 - AL592431.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235217 chr20 32186477 32190527 - TSPY26P transcribed_processed_pseudogene 44 35 75 52 85 119 82 47 85 ENSG00000235218 chr2 193276668 193277614 - AC092638.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235219 chrX 153203044 153205534 + AC236972.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235221 chr13 69222324 69322190 + LINC00383 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235224 chrX 53113018 53113274 - AL591212.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235225 chr2 222726457 222726834 + AC016712.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235226 chr1 159759170 159759589 + AL445528.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235227 chr7 64180006 64180892 - VN1R38P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235232 chr2 139668547 139669305 + MRPS18BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235235 chr2 91817771 91818248 + IGKV1OR2-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235236 chr3 48979918 48983985 - AC137630.2 antisense 33 30 42 46 63 62 27 38 16 ENSG00000235237 chr22 37166757 37182850 + Z82188.2 antisense 1 2 7 2 6 5 8 1 7 ENSG00000235238 chr6 29636060 29636343 - SUMO2P1 processed_pseudogene 9 4 6 4 5 6 3 3 5 ENSG00000235239 chrX 128127090 128128212 - Z74696.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235240 chr3 11488300 11488473 - AC026185.1 unprocessed_pseudogene 1 0 1 0 0 0 2 0 0 ENSG00000235241 chr1 16889095 16889602 + BX284668.4 processed_pseudogene 6 0 3 10 3 9 11 5 2 ENSG00000235242 chr2 114122274 114123293 - AC010982.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235243 chr7 84847877 84848253 - AC093716.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235244 chrX 115917271 115969089 - DANT2 lincRNA 642776 0 0 0 0 0 0 0 0 0 ENSG00000235245 chr10 133295187 133295977 - AL360181.2 antisense 41 47 54 84 113 76 41 63 67 ENSG00000235246 chr22 38231320 38232248 + AL020993.1 antisense 60 47 66 11 34 31 28 32 23 ENSG00000235248 chr9 104655363 104659055 - OR13C1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235251 chr1 87044935 87045871 - AC093155.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235253 chr5 132942932 132945050 + AC010240.2 processed_pseudogene 4 7 3 23 43 26 41 31 27 ENSG00000235254 chrX 149768897 149771368 + TMEM185AP1 unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000235256 chr9 62710036 62711398 - FKBP4P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235257 chr3 37745432 37861780 - ITGA9-AS1 processed_transcript 101928153 1 2 1 4 1 0 2 1 6 ENSG00000235258 chr2 112286057 112286422 - NDUFB4P6 processed_pseudogene 0 1 1 0 0 0 0 1 0 ENSG00000235262 chrX 53212408 53214679 - KDM5C-IT1 sense_intronic 1 7 0 0 2 1 6 2 3 ENSG00000235263 chr1 9501092 9503471 - AL928921.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235264 chr10 133144612 133145304 - RPL5P28 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000235266 chr10 102887874 102888188 - RPL22P17 processed_pseudogene 0 1 0 0 2 0 0 0 0 ENSG00000235267 chr2 27455156 27455862 + AC074117.2 processed_pseudogene 0 0 0 0 0 0 1 3 7 ENSG00000235268 chr11 95025258 95027596 + KDM4E protein_coding The protein encoded by this intronless gene is a member of a large family of histone lysine demethylases, which use oxygen and 2-oxoglutarate to demethylate di- and trimethylated lys9 of histone H3. Derepression of genes by demethylases is sometimes involved in viral infection or carcinogenesis, so inhibitors of these enzymes are desired. [provided by RefSeq, Dec 2016]. 390245 GO:0035097, GO:0005634, histone methyltransferase complex, nucleus, GO:0051213, GO:0046872, GO:0032454, GO:0032454, GO:0032452, dioxygenase activity, metal ion binding, histone demethylase activity (H3-K9 specific), histone demethylase activity (H3-K9 specific), histone demethylase activity, GO:0055114, GO:0033169, GO:0006338, oxidation-reduction process, histone H3-K9 demethylation, chromatin remodeling, 0 0 0 1 0 0 0 0 0 ENSG00000235269 chr14 53768942 53850882 - LINC02331 lincRNA 105370503 0 0 0 0 0 0 0 0 0 ENSG00000235271 chr22 26903292 26920611 + LINC01422 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235272 chr6 166585604 166587594 - RAMACL protein_coding 3 6 3 0 1 0 2 0 6 ENSG00000235274 chrX 127728734 127730858 - Z75741.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235275 chr5 123636110 123637403 + KRT18P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235277 chr21 14918534 14947096 + AF127577.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235278 chr3 50786674 50788285 - ZNF652P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235279 chr10 51302566 51306709 + AC069079.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000235280 chr13 112967484 112968824 - MCF2L-AS1 antisense 1 0 0 0 0 4 5 0 5 ENSG00000235281 chr10 2501783 2567239 + AL713851.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235282 chr1 18513118 18513383 + DYNLL1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235284 chr9 131485665 131485750 + SNORD62A snoRNA 26786 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 2 0 2 0 ENSG00000235285 chr13 44146470 44158222 - SMIM2-IT1 sense_intronic 100874377 0 0 0 0 0 0 0 0 0 ENSG00000235286 chr11 111670956 111672404 - AP000925.1 processed_pseudogene 1 4 2 2 0 0 1 0 0 ENSG00000235288 chr3 42785087 42852428 - AC099329.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000235289 chr2 70353010 70355915 + BRD7P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235290 chr6 29956596 29958570 + HLA-W unprocessed_pseudogene 1 0 2 3 0 0 0 0 0 ENSG00000235292 chr20 12243895 12244296 - AL109838.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235293 chr2 235177896 235178905 + AC114814.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235294 chr3 181505075 181505879 - RPL7AP25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235295 chr22 18029385 18037968 + LINC01634 lincRNA 100192420 0 0 0 0 0 0 0 0 0 ENSG00000235296 chr17 81941869 81947601 + AC145207.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235297 chr18 74389884 74390297 - FAUP1 processed_pseudogene 2 1 3 3 0 3 1 1 0 ENSG00000235298 chr9 83972233 83975777 + AL354733.3 antisense 966 925 1152 518 559 451 481 458 536 ENSG00000235299 chr1 112625906 112626224 - MRPL53P1 processed_pseudogene 2 4 5 6 2 7 4 3 7 ENSG00000235300 chr17 48294335 48308762 + THRA1/BTR antisense 105371807 0 0 3 7 0 4 0 1 0 ENSG00000235301 chr6 32896416 32896490 + HLA-Z unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235303 chr1 170598854 170647339 + AL023495.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235304 chrX 39304956 39327362 - LINC01281 lincRNA 286442 0 0 0 0 0 4 0 0 0 ENSG00000235306 chr13 36740041 36740863 + GAPDHP34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235308 chr1 88923370 88923844 + AL445991.1 processed_pseudogene 8 1 4 1 3 4 4 1 2 ENSG00000235310 chr9 64488600 64489786 + GXYLT1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235312 chr21 30514613 30514799 - KRTAP19-10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235313 chr20 31563166 31564076 + HM13-IT1 sense_intronic 18 8 22 6 27 16 11 20 11 ENSG00000235314 chr7 44039171 44042306 + LINC00957 lincRNA 131 128 128 61 71 80 58 52 43 ENSG00000235315 chr13 25206049 25206506 + RPL23AP69 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000235316 chr10 73731824 73733638 + DUSP8P5 processed_pseudogene 2 4 9 7 8 11 12 2 0 ENSG00000235318 chr2 201214653 201214950 - MTND4LP13 unprocessed_pseudogene 0 0 0 0 0 0 0 1 1 ENSG00000235319 chr2 105324210 105330529 + AC012360.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235321 chr2 169100743 169101210 + AC007556.1 antisense 12 26 21 4 24 4 6 26 4 ENSG00000235323 chr17 20564538 20564889 + COTL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235325 chr2 107920763 107921248 - AC009963.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235328 chr22 17093612 17093939 - AC006946.1 processed_pseudogene 5 12 37 17 16 36 23 8 30 ENSG00000235329 chrX 113347413 113347619 + AL031183.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235330 chr9 477750 478423 + RPL12P25 transcribed_processed_pseudogene 2 0 1 3 0 0 0 0 0 ENSG00000235332 chr9 125194649 125195821 - RPSAP76 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235333 chr7 100352360 100353692 + PVRIG2P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235334 chrX 128122734 128123496 + BTG3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235335 chr2 167814774 167941144 - AC016723.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235337 chr2 220127546 220212491 + AC093083.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235338 chr3 9600748 9602728 + DUSP5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235339 chr3 41977008 41978034 + GEMIN2P2 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000235343 chr22 16746869 16748645 - LINC01665 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235347 chr22 45792418 45793636 - Z84478.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000235349 chr7 64566814 64567443 - AC016769.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235350 chrX 48433201 48441619 + AL606490.8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235351 chr2 241724615 241725693 - AC114730.3 antisense 21 7 17 11 19 15 21 10 15 ENSG00000235352 chr2 144754776 144755998 - AC023128.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235354 chr7 103348601 103348771 + RPS29P16 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000235356 chr10 65271319 65315080 + AL592466.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235357 chr6 79803583 79807225 - LINC01621 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235358 chr1 41242373 41284861 + AC093151.3 lincRNA 1 0 0 0 0 0 0 1 0 ENSG00000235361 chr17 1181893 1185086 + AC016292.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235363 chr1 205351247 205351471 + SNRPGP10 processed_pseudogene 3 2 14 3 5 1 8 5 2 ENSG00000235366 chr13 45680184 45701184 - LINC01055 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000235368 chr7 57424503 57425676 + SAPCD2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235369 chr2 47797826 47798091 - RPL36AP15 processed_pseudogene 5 1 3 4 7 4 1 3 3 ENSG00000235370 chr15 84398316 84411701 - DNM1P51 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235371 chr1 236110061 236112370 + AL122018.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235374 chr21 45070952 45074165 - SSR4P1 transcribed_processed_pseudogene 728039 0 6 0 0 0 2 1 2 0 ENSG00000235376 chr10 103245887 103248016 + RPEL1 protein_coding 729020 GO:0005829, GO:0005829, cytosol, cytosol, GO:0046872, GO:0004750, metal ion binding, ribulose-phosphate 3-epimerase activity, GO:0044262, GO:0019323, GO:0009052, GO:0006098, cellular carbohydrate metabolic process, pentose catabolic process, pentose-phosphate shunt, non-oxidative branch, pentose-phosphate shunt, 0 1 0 6 2 7 0 2 0 ENSG00000235377 chr9 82130752 82131632 + AL158047.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235378 chr1 169990067 169990196 + MRPS10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235379 chr7 34710757 34711480 + RPL7P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235381 chr6 155253139 155256724 - AL596202.1 antisense 38 50 34 52 58 20 37 50 18 ENSG00000235382 chrX 70124972 70129071 - MTND4P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235385 chrX 13266048 13303452 - LINC02154 lincRNA 109729169 0 0 0 0 0 4 0 0 0 ENSG00000235386 chr1 246818076 246818180 + AC113174.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235387 chr9 35909483 35937153 + SPAAR protein_coding 158376 GO:1905103, GO:0046611, GO:0031902, integral component of lysosomal membrane, lysosomal proton-transporting V-type ATPase complex, late endosome membrane, GO:1904262, GO:0071230, GO:0043416, negative regulation of TORC1 signaling, cellular response to amino acid stimulus, regulation of skeletal muscle tissue regeneration, 0 0 0 1 0 0 0 0 0 ENSG00000235389 chr9 8700595 8701552 - AL583805.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000235390 chr15 45321077 45321692 - AC051619.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235397 chr17 19296596 19306261 - EPN2-AS1 antisense 100874018 0 0 1 0 0 1 0 1 0 ENSG00000235399 chr6 136995170 136999504 + AL135902.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235400 chr1 78749073 78750659 + AC104837.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235403 chr2 1059133 1068341 - AC114808.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235407 chr1 110487680 110490258 - CYMP-AS1 lincRNA 440602 0 0 0 0 0 0 0 0 0 ENSG00000235408 chr20 38425083 38425354 - SNORA71B snoRNA 0 0 2 2 6 0 9 0 0 ENSG00000235410 chr10 14074284 14087605 + AL157896.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235411 chr2 20239892 20241046 - AC007041.1 processed_pseudogene 1 0 0 0 2 0 2 0 0 ENSG00000235412 chrY 24570202 24607025 + TTTY4B lincRNA There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]. 474149 0 0 0 0 0 0 0 0 0 ENSG00000235413 chr4 17911674 17912976 + KRT18P63 processed_pseudogene 1 0 4 3 4 0 1 2 0 ENSG00000235414 chr2 174043008 174043880 + RPSAP24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235415 chr20 53608354 53634590 + AC005808.1 lincRNA 105372672 0 0 0 0 0 0 2 1 0 ENSG00000235416 chrX 53456273 53457029 - AC233728.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235419 chr2 230520594 230580006 - AC010149.1 antisense 13 14 10 14 15 38 17 16 25 ENSG00000235420 chr15 70796597 70802688 - RPL29P30 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235421 chr7 65525629 65554744 - AC114501.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235422 chr18 2593674 2594913 - KATNBL1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235423 chr12 123252030 123261483 - AC068768.1 antisense 11 9 8 5 4 5 2 3 0 ENSG00000235424 chr3 33077204 33077491 + SUMO2P10 processed_pseudogene 1 5 3 0 0 0 0 3 5 ENSG00000235425 chrX 95679130 95679627 - RPS7P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235426 chr10 79382328 79409274 + AL133481.1 antisense 6 11 10 3 11 6 8 1 0 ENSG00000235427 chr7 116542718 116551969 - AC006159.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235429 chr7 133315009 133315413 - AC083875.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235430 chr17 15768717 15771426 - ZSWIM5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235431 chr7 9961024 9981817 + AC004936.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235432 chr1 20692734 20694013 - AL663074.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235433 chr2 202615769 202616440 + MTATP6P17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235434 chr1 19814367 19819502 + AL391883.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235435 chr2 145294277 145331847 - AC096666.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235436 chr7 90119400 90125600 + DPY19L2P4 transcribed_unprocessed_pseudogene 442523 0 0 0 0 0 0 0 0 0 ENSG00000235437 chrX 63343227 63561071 - LINC01278 processed_transcript 92249 11 9 30 30 13 63 41 12 35 ENSG00000235438 chr13 21260015 21295003 + ESRRAP2 transcribed_processed_pseudogene 105370105 0 0 0 0 0 0 0 0 0 ENSG00000235440 chr2 26101317 26102136 - AC011742.3 processed_pseudogene 3 1 0 2 7 4 7 2 0 ENSG00000235444 chr2 216610342 216610959 - PSMB3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235445 chr22 17983205 17983619 - AC016027.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000235446 chr1 69215835 69249477 - AL512271.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235447 chrX 76655498 76656559 - TRAPPC13P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235448 chr9 12698554 12814345 - LURAP1L-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235449 chr1 202767229 202767418 - AC098934.3 processed_pseudogene 2 6 5 0 3 3 22 4 0 ENSG00000235450 chr7 91380778 91556848 - AC079760.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235451 chrY 14081075 14086600 + PNPLA4P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235453 chr9 32551144 32568621 + SMIM27 protein_coding 100129250 GO:0016021, integral component of membrane, 254 218 283 151 231 222 165 221 186 ENSG00000235454 chr7 53862233 53863339 + HAUS6P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235455 chr3 51873596 51875767 + IQCF5-AS1 antisense 101928999 0 0 0 0 0 0 0 0 0 ENSG00000235459 chr7 122681315 122681662 + RPS26P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235461 chrX 85210706 85219698 + AC003001.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235462 chrY 13153931 13162214 - TAB3P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000235463 chr2 85068809 85069031 - AC078974.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235464 chr7 35496021 35510263 - AC007652.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235467 chr1 242365189 242365822 + RPL10AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235469 chr10 59551404 59551878 - MRPL50P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235470 chr10 103479603 103517393 - NEURL1-AS1 antisense 102724341 0 0 0 0 0 0 0 0 0 ENSG00000235472 chr13 28598833 28600052 + EIF4A1P7 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000235478 chr22 17121586 17132104 + LINC01664 lincRNA 100996342 4 4 7 0 5 2 0 2 5 ENSG00000235479 chrY 18649671 18650279 + RAB9AP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235480 chr2 96527940 96532306 - AC013270.1 antisense 105373496 0 0 0 0 0 0 0 0 0 ENSG00000235481 chr9 33785950 33818795 - UBE2R2-AS1 antisense 33 34 25 7 12 4 8 13 19 ENSG00000235482 chr3 37748110 37748900 + RPL21P135 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235483 chrX 2852740 2853760 - GYG2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235485 chr22 34589085 34591278 - AL021877.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235486 chr2 106369724 106378247 + AC114755.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235488 chr6 15247815 15248634 - JARID2-AS1 antisense 30 48 43 19 25 9 26 16 43 ENSG00000235489 chr10 64168959 64170850 - DBF4P1 processed_pseudogene 1 2 6 0 0 0 1 3 6 ENSG00000235491 chr2 125710969 125765842 + LINC01889 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235492 chr1 199016133 199076735 + LINC01221 lincRNA 104266961 0 0 0 0 0 0 0 0 0 ENSG00000235493 chr3 27916774 28059268 - LINC01967 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235494 chr9 97233201 97235014 + AL590705.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235495 chr2 67565604 67684077 - AC007422.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235497 chr2 23375229 23381299 - AC012506.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235499 chr2 73985132 73986343 + AC073046.1 lincRNA 47 46 44 22 16 30 35 24 65 ENSG00000235500 chr13 18892260 18895230 - SNX19P2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000235501 chr1 94927566 94963270 + AC105942.1 antisense 0 0 0 0 0 2 0 0 0 ENSG00000235503 chr7 83355154 83362266 + AC079799.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235505 chr11 104901549 104919073 - CASP17P transcribed_unprocessed_pseudogene 643733 9 3 18 65 5 25 63 6 15 ENSG00000235508 chr20 45640486 45641370 - RPS2P7 processed_pseudogene 0 1 0 8 0 0 2 0 0 ENSG00000235510 chrX 36957913 36958139 + BX842568.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235511 chrY 25871931 25898653 - OFD1P18Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235512 chrX 30854321 30854707 + TAB3-AS2 antisense 67 47 69 19 37 34 21 37 33 ENSG00000235513 chr22 41209122 41217627 - AL035681.1 antisense 8 9 13 25 8 5 11 14 7 ENSG00000235514 chr21 25762938 25763333 - LLPHP2 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000235518 chr15 26657030 26658763 - AC011196.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235519 chr2 81461358 81467468 - LINC01815 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235521 chrY 17788315 17789484 - USP9YP27 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235522 chr2 105846534 105857177 - AC010978.1 antisense 96 86 102 41 74 67 41 60 78 ENSG00000235523 chr9 72257336 72257783 + AL135924.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235524 chr10 69591406 69592931 - MTCO1P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235525 chr20 45975249 45976075 - FTLP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235526 chr1 110177643 110178719 - AL355990.2 antisense 0 0 0 3 0 0 0 0 0 ENSG00000235527 chr1 113924000 113929492 - HIPK1-AS1 antisense 101928846 2 3 18 3 1 20 5 1 9 ENSG00000235529 chr2 235505751 235507566 + AGAP1-IT1 sense_intronic 100506749 0 0 0 0 0 0 0 0 0 ENSG00000235530 chr17 21214331 21230035 + AC087294.1 antisense 107984969 4 3 2 5 6 1 2 3 3 ENSG00000235531 chr8 71828167 72118393 + MSC-AS1 antisense 100132891 5 2 3 2 2 10 1 4 19 ENSG00000235532 chr13 74231457 74259976 + LINC00402 lincRNA 100507612 15 10 34 67 17 34 34 9 32 ENSG00000235533 chr9 14025971 14030115 + AL360089.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235534 chr3 34872641 34873854 + FECHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235535 chr6 123389421 123510241 + TRDN-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235537 chr2 21607465 21637197 - AC009411.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235538 chr6 163703904 163759841 + AL137005.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000235539 chrX 143433042 143433958 + MTND1P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235544 chr20 11345383 11345855 - RPS11P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235545 chr1 62688482 62710694 + AC103923.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235546 chr17 20612667 20614008 + AC087499.4 processed_pseudogene 2 0 0 1 2 1 0 0 0 ENSG00000235547 chr11 92336032 92336496 - NDUFB11P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235548 chr2 156033247 156034080 - AC073551.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000235549 chr1 38958275 38958925 - EIF1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235550 chr13 38922727 38936199 - ANKRD26P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235552 chr18 6462144 6463015 - RPL6P27 transcribed_processed_pseudogene 23 33 61 97 28 92 61 32 84 ENSG00000235554 chr17 16616848 16617881 - AC005822.1 processed_pseudogene 0 3 4 3 1 4 0 0 5 ENSG00000235555 chr19 49275119 49275420 + SUMO1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235558 chr5 71220356 71259238 - GUSBP9 unprocessed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000235559 chr6 28783633 28784004 - NOP56P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235560 chr16 30534752 30537144 + AC002310.1 antisense 107984875 9 7 7 1 1 13 10 4 4 ENSG00000235563 chr1 53114576 53118609 + AL445183.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235564 chr21 23960905 23967273 - AP000477.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235568 chr22 42380410 42432395 - NFAM1 protein_coding The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. [provided by RefSeq, Jul 2008]. 150372 GO:0045121, GO:0035577, GO:0016021, GO:0016021, GO:0005886, membrane raft, azurophil granule membrane, integral component of membrane, integral component of membrane, plasma membrane, GO:0005515, GO:0004888, GO:0004888, protein binding, transmembrane signaling receptor activity, transmembrane signaling receptor activity, GO:0051091, GO:0050861, GO:0050853, GO:0045577, GO:0043312, GO:0035556, GO:0030183, GO:0007165, GO:0006954, GO:0001819, positive regulation of DNA-binding transcription factor activity, positive regulation of B cell receptor signaling pathway, B cell receptor signaling pathway, regulation of B cell differentiation, neutrophil degranulation, intracellular signal transduction, B cell differentiation, signal transduction, inflammatory response, positive regulation of cytokine production, 9295 9061 12567 2754 5149 4719 4283 4607 4357 ENSG00000235570 chr6 28648286 28649066 - LINC00533 lincRNA 387055 0 0 0 0 0 0 0 0 0 ENSG00000235571 chr2 94786688 94787261 - SNX18P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235572 chr9 135352684 135354220 + AL353615.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235573 chr22 31113017 31113396 + AC005005.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235574 chr7 27491682 27492765 - AC073150.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235575 chr1 169310665 169322479 + Z99758.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235576 chr2 7725801 7730705 + LINC01871 lincRNA 3 2 7 8 3 6 2 5 10 ENSG00000235578 chr22 20343203 20344365 - AC007731.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235579 chr2 201162484 201162680 - AC007283.2 processed_pseudogene 3 5 8 4 6 4 2 6 3 ENSG00000235581 chr7 71942259 71942468 + AC005011.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235582 chr1 197735636 197736107 + AL365258.2 processed_pseudogene 1 0 4 0 1 0 2 0 4 ENSG00000235583 chrY 25512301 25527786 - AC007562.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235584 chr2 95666084 95668715 + AC008268.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235586 chr2 38601598 38602178 + AC011247.2 antisense 5 1 6 6 2 2 5 1 0 ENSG00000235587 chrX 46439709 46440714 - GAPDHP65 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000235590 chr20 58818919 58850903 - GNAS-AS1 antisense This gene produces a paternally-imprinted antisense RNA transcript that helps regulate the GNAS complex locus, which encodes the alpha subunit of the stimulatory G protein. Defects in this gene are a cause of pseudohypoparathyroidism type Ib.[provided by RefSeq, Jun 2010]. 149775 0 0 0 0 0 2 0 0 3 ENSG00000235592 chrX 13327937 13329867 + AC004674.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235593 chr3 29926811 29934156 - RBMS3-AS1 antisense 100873977 0 0 0 0 0 0 0 0 0 ENSG00000235594 chr20 56267872 56269231 + AL139824.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235595 chr1 119462029 119463021 - GAPDHP23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235597 chr2 104433267 104520832 + LINC01102 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235598 chrX 144309132 144309693 + RRM2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235601 chr9 93955597 93959140 + BARX1-DT lincRNA 101928040 0 0 0 0 0 0 0 0 0 ENSG00000235602 chr12 8133772 8134849 - POU5F1P3 processed_pseudogene 642559 122 98 242 30 108 59 63 51 35 ENSG00000235605 chr1 234356704 234357141 - AL355472.2 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000235606 chr4 151027090 151027617 + AK4P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235608 chr4 1402932 1406331 - NKX1-1 protein_coding This gene encodes a transcription factor that belongs to NKX family of homeodomain-containing proteins which are critical regulators of organ development. In mice, the orthologous gene is expressed predominantly in the brainstem, in the vicinity of serotonergic neurons, and is required for the coordinated crosstalk of factors involved in the maintenance of energy homeostasis. Mice with a knockout of the orthologous gene lack subcutaneous fat and intra-abdominal epididymal and mesenteric white adipose tissue two weeks after birth, and die within three weeks after birth. [provided by RefSeq, Jul 2017]. 54729 GO:0005634, GO:0000785, nucleus, chromatin, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0050877, GO:0043467, GO:0030154, GO:0010906, GO:0008150, GO:0006629, GO:0006357, nervous system process, regulation of generation of precursor metabolites and energy, cell differentiation, regulation of glucose metabolic process, biological_process, lipid metabolic process, regulation of transcription by RNA polymerase II, 0 1 0 0 0 0 0 1 0 ENSG00000235609 chr21 14818843 15014430 - AF127577.4 lincRNA 2 1 0 2 1 2 0 0 0 ENSG00000235610 chr2 223505476 223510933 + AC013448.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235612 chr1 56145721 56155224 + AL353681.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235613 chr1 77847110 77848802 + NSRP1P1 processed_pseudogene 0 0 2 2 4 2 0 2 1 ENSG00000235615 chr2 131964731 131979873 - AJ239322.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235616 chr2 187825341 187826449 + ST13P2 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000235617 chr22 18101612 18101888 + AC016027.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235618 chr10 50021182 50067803 - FAM21EP transcribed_unprocessed_pseudogene 100421577 1 0 3 13 12 20 30 1 29 ENSG00000235619 chr9 35507564 35507873 + RPL36AP33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235620 chr7 50274790 50275622 - AC020743.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235621 chr20 48359950 48370629 + LINC00494 lincRNA 284749 1 0 0 5 5 0 1 6 0 ENSG00000235623 chr10 14986942 14987515 - OR7E110P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235625 chr13 78275720 78277514 - AL138957.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235626 chr9 30773464 30774732 + KRT18P66 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235627 chr3 48161176 48161417 + SNRPFP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235628 chr1 175538775 175556818 - TNR-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000235629 chr3 14648194 14649432 - AC090952.1 antisense 0 0 3 2 3 20 5 2 11 ENSG00000235631 chr7 122701664 122702967 - RNF148 protein_coding 378925 GO:0016021, GO:0005794, GO:0005783, GO:0005770, GO:0005737, integral component of membrane, Golgi apparatus, endoplasmic reticulum, late endosome, cytoplasm, GO:0061630, GO:0046872, ubiquitin protein ligase activity, metal ion binding, GO:0016567, GO:0006511, protein ubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000235635 chr5 56941307 56947152 + AC016644.1 antisense 2 3 1 6 1 2 2 0 0 ENSG00000235636 chrX 47512602 47513483 - NUS1P1 processed_pseudogene 3 4 2 17 6 4 5 2 3 ENSG00000235637 chr10 17862887 17865471 - AC069023.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235638 chr1 235537520 235538041 + MTND6P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235639 chr7 88512029 88513187 - AC002069.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235640 chr2 123695302 123697396 + AC092646.2 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000235641 chr9 91159573 91165658 + LINC00484 lincRNA 2 0 4 5 0 0 0 0 6 ENSG00000235642 chrX 27427777 27428231 - PTP4A1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235643 chr1 11609531 11613355 + LINC01647 lincRNA 101929181 0 0 0 0 0 0 0 0 0 ENSG00000235644 chr2 108712262 108712900 - RPL10P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235645 chr10 69684899 69692452 + AL450311.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235646 chr7 64111752 64112572 - MTND1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235647 chr22 39750127 39751293 + AL022319.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235649 chrY 11957208 11987386 + MXRA5Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235651 chr2 135510546 135511943 - AC064850.1 processed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000235652 chr6 145799409 145886585 + AL356599.1 antisense 19 38 28 26 17 38 48 30 26 ENSG00000235653 chr2 39929110 39929998 + AC007253.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235655 chr2 174719908 174720318 + H3F3AP4 processed_pseudogene 1497 1620 2227 505 1186 1112 606 1171 1076 ENSG00000235656 chrX 115198432 115198749 + RPL36P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235659 chr9 61865755 61866965 - AL391987.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235660 chr13 52482804 52489216 - LINC00345 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235661 chr11 43569306 43570395 + MIR670HG lincRNA 100507261 0 0 0 0 0 0 0 0 0 ENSG00000235663 chr6 31764310 31765588 - SAPCD1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235665 chr2 7922425 8278084 - LINC00298 lincRNA 339788 0 0 0 0 0 0 0 0 0 ENSG00000235669 chr7 29199540 29208970 - AC004593.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235670 chr3 32030196 32030678 + RPL21P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235672 chr17 18908279 18908865 + AC090286.2 transcribed_processed_pseudogene 2 1 1 2 3 0 0 0 0 ENSG00000235673 chr1 37840986 37841676 + AL929472.4 processed_pseudogene 1 1 1 0 0 0 0 2 0 ENSG00000235674 chr1 235738005 235738989 + LDHAP2 processed_pseudogene 116 150 118 101 192 123 142 96 139 ENSG00000235677 chr10 96560185 96560922 + NPM1P26 processed_pseudogene 31 39 45 16 27 52 29 23 35 ENSG00000235678 chr11 59309681 59310576 - OR5AN2P unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000235679 chr10 30383400 30383622 + AL161651.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235681 chr19 54446830 54447047 + AC245884.3 processed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000235683 chr8 99695957 99698017 + AC018442.1 processed_pseudogene 1 1 0 1 1 0 4 2 7 ENSG00000235685 chrX 40514895 40515508 + AC092473.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235686 chr19 12508129 12508263 + PPIAP20 processed_pseudogene 0 1 2 0 1 0 2 3 0 ENSG00000235687 chr10 37248118 37347031 + LINC00993 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235688 chr2 949627 950274 - AC116614.1 antisense 0 0 0 1 0 0 2 0 0 ENSG00000235689 chr22 24006305 24008258 - AC253536.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235690 chr10 45127318 45148914 + CUBNP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235691 chrY 10090802 10091207 + AC006987.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235695 chr3 47663626 47663934 + AC130472.1 processed_pseudogene 0 4 0 0 0 0 0 1 0 ENSG00000235698 chr20 12380056 12381255 + PA2G4P2 processed_pseudogene 0 1 0 0 0 1 0 2 1 ENSG00000235699 chrX 146809784 146810409 + CXorf51B protein_coding 100133053 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000235700 chr1 157128362 157128671 + CYCSP52 processed_pseudogene 360155 0 0 0 22 4 2 7 2 9 ENSG00000235701 chr21 39171130 39172106 - PCBP2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235703 chrX 149938628 150224580 + LINC00894 antisense 57 64 64 56 55 96 61 54 68 ENSG00000235705 chr10 79507597 79510982 - AL133481.2 transcribed_processed_pseudogene 729815 0 0 0 0 0 0 0 0 0 ENSG00000235706 chr14 95157645 95179933 + DICER1-AS1 antisense 400242 42 49 26 25 48 41 26 41 47 ENSG00000235707 chr9 75401889 75402992 - AL158073.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235710 chr1 231184098 231187627 - AL109810.2 lincRNA 149373 0 0 0 0 0 0 0 0 0 ENSG00000235711 chr15 79293285 79298235 + ANKRD34C protein_coding 390616 0 0 0 0 0 0 0 0 0 ENSG00000235713 chr7 99992397 99993050 + AC004522.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235716 chr2 161580072 161581350 + KRT18P46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235717 chr2 114833830 114835588 - DPP10-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235718 chr11 119338942 119346673 - MFRP protein_coding This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]. 83552 GO:0016324, GO:0016021, apical plasma membrane, integral component of membrane, GO:0003674, molecular_function, GO:0060041, GO:0042462, GO:0009792, GO:0007601, retina development in camera-type eye, eye photoreceptor cell development, embryo development ending in birth or egg hatching, visual perception, 0 0 0 0 0 0 0 0 0 ENSG00000235719 chrY 21465384 21467163 - FAM197Y10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235720 chr7 63893286 63894641 + GABPAP processed_pseudogene 12 21 30 31 35 19 15 16 24 ENSG00000235721 chr2 110007675 110010783 + AC013268.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235724 chr2 161222785 161308303 - AC009299.3 antisense 30 68 84 38 15 37 30 15 17 ENSG00000235725 chr2 65589566 65640177 - AC007389.3 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000235726 chr2 234834315 234913384 - AC010148.1 processed_transcript 0 0 2 0 0 0 0 0 0 ENSG00000235728 chr7 36781008 36782789 + AC007349.3 lincRNA 0 0 0 0 3 9 2 1 0 ENSG00000235729 chrX 143806391 143806733 + AL500522.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235730 chrX 131619013 131619951 + OR2AF1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235731 chr15 25484831 25578791 - LINC02250 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000235734 chr2 97827248 97827545 + HMGN1P36 processed_pseudogene 2 1 1 0 1 0 0 1 1 ENSG00000235735 chrX 128313281 128314048 + RPL7AP72 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235736 chr1 168763365 168774490 - AL031275.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235737 chr13 66268997 66270458 + TRIM60P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235738 chr7 55797946 55798480 - AC092647.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235740 chr6 143554325 143562031 - PHACTR2-AS1 antisense 0 1 3 0 0 0 0 0 0 ENSG00000235741 chr1 54516412 54517259 - AC099796.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235742 chr10 117023674 117023851 - AC012308.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235743 chr6 23337711 23346560 + AL139231.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235746 chr10 94646364 94647996 - CTBP2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235748 chr1 197138748 197139307 - SEPT14P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235749 chr1 247639749 247747062 + AL390860.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235750 chr1 175156987 175192999 - KIAA0040 protein_coding 9674 GO:0016021, integral component of membrane, 1532 1559 1506 586 1175 892 800 1091 932 ENSG00000235756 chr1 80092103 80093237 - AC098657.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235759 chr22 15550904 15553838 - ARHGAP42P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235760 chr2 47527008 47535199 + HCG2040054 antisense 644093 1 0 0 0 2 0 0 0 0 ENSG00000235761 chr1 235542159 235542390 - MTCO3P46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235763 chr10 13104574 13104793 - SNRPGP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235768 chr13 94757451 94759272 - BRD7P5 processed_pseudogene 0 6 0 7 2 1 0 2 0 ENSG00000235770 chr2 215611563 215843722 - LINC00607 lincRNA 646324 0 0 0 0 0 0 0 0 0 ENSG00000235772 chr21 42560374 42561934 - AP001625.2 antisense 3 1 0 0 8 0 7 0 2 ENSG00000235774 chr2 126308510 126343992 + AC023347.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235775 chr5 132163603 132163765 - AC063976.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235776 chr22 19792294 19793094 + AC000089.1 processed_pseudogene 1 3 4 13 2 1 2 0 0 ENSG00000235777 chr1 97796921 97798066 + DPYD-AS2 antisense 100873933 6 9 14 5 5 9 1 2 10 ENSG00000235778 chr8 7341826 7342942 + AC130360.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235779 chr2 305111 314367 - AC079779.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235780 chr4 9344148 9345740 + USP17L27 protein_coding 728393 0 0 0 0 0 0 0 0 0 ENSG00000235781 chr6 30516266 30519217 + LINC02569 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235782 chr1 70947379 70951493 + AL031429.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000235784 chr13 93394977 93395855 - HNRNPA1P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235785 chr14 99262948 99264735 + AL109767.1 antisense 0 1 0 3 0 0 2 0 1 ENSG00000235786 chr22 28992721 29018620 + ZNRF3-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000235787 chr3 42469640 42469879 + AC092047.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235790 chr1 31644049 31660162 + AC114488.2 antisense 4 12 11 7 13 10 2 7 10 ENSG00000235794 chr1 93924386 93924716 - MTND3P21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235795 chr1 100995473 100996260 + AC093157.2 antisense 0 1 0 3 1 0 0 0 0 ENSG00000235797 chr9 114572901 114573371 + AL160275.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235802 chrX 153969325 153970087 + HCFC1-AS1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000235803 chr10 69590583 69591262 - MTCO2P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235804 chr1 65077413 65078131 - AL357078.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235805 chr3 44709311 44710886 - SOCS5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235806 chrX 38770331 38799658 + AF241728.1 lincRNA 3 4 1 2 4 13 2 1 2 ENSG00000235808 chr21 39488327 39488760 + MYL6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235810 chr10 57513157 57513425 + AL731534.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235811 chr1 202039851 202039934 + AL691482.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235812 chr14 70245491 70247801 - ADAM21P1 transcribed_processed_pseudogene 145241 0 0 0 0 0 0 0 0 0 ENSG00000235813 chrX 134599457 134606254 + AL672032.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235815 chr6 168716606 168723495 + AL136099.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235816 chr10 63427297 63427939 + PRELID1P3 processed_pseudogene 1 2 0 1 0 1 0 0 0 ENSG00000235817 chr1 230612009 230612412 - AL158214.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235818 chr1 247236868 247237957 - VN1R17P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235819 chr9 86414282 86414570 + AL158828.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235820 chr20 5533628 5535889 + AL109935.1 antisense 1 7 9 6 3 5 6 3 6 ENSG00000235821 chr6 29750729 29751148 - IFITM4P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235823 chr10 100373513 100454043 + OLMALINC lincRNA 90271 1 2 2 2 0 2 2 5 2 ENSG00000235824 chr10 28789188 28796113 - LINC00837 lincRNA 100507605 0 0 0 0 0 0 0 0 0 ENSG00000235827 chr1 227506182 227508292 + TUBB8P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235828 chr7 15701435 15701752 - RPL36AP26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235829 chr1 14692129 14692613 - TBCAP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235830 chr3 9256759 9257507 + SRGAP3-AS4 lincRNA 101927440 0 0 0 0 0 0 0 0 0 ENSG00000235831 chr3 4896809 4979961 - BHLHE40-AS1 antisense 100507582 GO:0005786, signal recognition particle, endoplasmic reticulum targeting, GO:0006617, SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition, 112 232 207 99 150 124 181 171 96 ENSG00000235832 chr9 64486164 64487069 - CNN2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235833 chr2 97523949 97524976 - AC017099.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000235834 chrX 17528435 17587160 + Z93022.1 sense_intronic 101928389 13 36 20 6 21 12 12 26 9 ENSG00000235836 chr3 195843986 195844596 + KIF3AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235837 chr7 16695871 16719898 - AC073333.1 antisense 4 2 5 11 4 13 1 3 15 ENSG00000235838 chr10 9721963 9724416 - HSP90AB7P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235840 chr2 120319007 120326298 + AC012363.2 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000235843 chr10 26717635 26718778 + AL390961.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235845 chr3 44899178 44900925 + AC098649.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235847 chr2 84777259 84778223 - LDHAP7 processed_pseudogene 0 0 1 1 0 0 0 0 0 ENSG00000235848 chr2 37949911 38067041 - RMDN2-AS1 antisense 0 0 0 0 10 0 10 0 0 ENSG00000235849 chrX 132667642 132669888 + HS6ST2-AS1 antisense 100874102 0 0 0 0 0 0 0 0 0 ENSG00000235852 chr2 190880797 190882059 - AC005540.1 antisense 85 71 162 120 79 154 122 124 151 ENSG00000235855 chr11 67722483 67723455 - OR7E145P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235857 chrY 56855244 56855488 + CTBP2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235858 chr10 80333771 80334426 + AL359195.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235859 chr7 30371508 30372741 + AC006978.1 processed_pseudogene 89 110 98 54 111 125 100 87 135 ENSG00000235861 chr2 241118725 241118943 + AC005237.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235862 chr1 212624284 212626771 - AL590648.2 antisense 0 0 0 0 0 5 0 0 0 ENSG00000235863 chr6 33277132 33284832 + B3GALT4 protein_coding This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]. 8705 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0047915, GO:0008499, GO:0008376, GO:0008375, ganglioside galactosyltransferase activity, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0006486, GO:0006486, GO:0001574, protein glycosylation, protein glycosylation, ganglioside biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000235864 chr2 209072597 209074148 - HSPA8P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235865 chr9 121280768 121285530 - GSN-AS1 antisense 57000 221 227 303 39 87 68 71 86 38 ENSG00000235868 chr12 7566369 7567382 + GAPDHP31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235869 chr1 174922107 174922440 - Z99127.2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000235871 chr2 116818086 116818761 + AC062016.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235872 chr12 67658991 67670919 - AC078777.1 antisense 17 15 22 16 5 31 20 8 20 ENSG00000235875 chr13 111113812 111115678 - ARHGEF7-AS2 antisense 100874238 0 0 0 0 0 0 0 0 0 ENSG00000235876 chr13 18665235 18667221 + FEM1AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235879 chr13 90170866 90171799 + FAR1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235880 chr9 267966 273002 - AL158832.1 antisense 7 14 20 7 4 9 9 5 9 ENSG00000235881 chr2 110709575 110716595 - AC114776.1 lincRNA 0 0 0 0 1 0 0 1 0 ENSG00000235884 chr12 30755167 30802602 + LINC00941 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235885 chr2 67086446 67311439 + LINC01828 lincRNA 101927661 0 0 0 0 0 0 0 0 0 ENSG00000235886 chr3 43778961 43779982 - AC006055.1 lincRNA 0 1 0 0 0 8 4 0 0 ENSG00000235887 chr1 143499187 143500512 - AC239859.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235888 chr21 38988707 39006153 - AF064858.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000235890 chr21 44506807 44516575 + TSPEAR-AS1 antisense 13 14 16 5 15 11 8 13 1 ENSG00000235892 chrX 66497748 66499424 + PKMP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235893 chr9 65816932 65817472 - BX284632.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235895 chrY 6492976 6496757 - AC010154.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235897 chr3 196318330 196325570 + TM4SF19-AS1 antisense 100874214 1 0 2 7 10 16 2 3 9 ENSG00000235899 chr6 53628380 53631394 + LINC01564 antisense 101927171 0 0 0 0 0 0 0 0 0 ENSG00000235901 chr9 102515204 102518308 + AL442644.1 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000235902 chr4 185665885 185675417 + AC108472.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235903 chr13 46052806 46122670 + CPB2-AS1 antisense 100509894 2 5 2 4 18 0 3 3 7 ENSG00000235904 chr3 29264194 29290726 - RBMS3-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235907 chr1 33512008 33512743 - AC115285.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235908 chr3 49365145 49367006 - RHOA-IT1 sense_intronic 19 22 32 14 21 24 20 12 13 ENSG00000235910 chr11 116836117 116855729 + APOA1-AS antisense 104326055 5 4 10 1 10 8 6 11 4 ENSG00000235911 chr2 19711715 19717576 + AC019055.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235912 chr1 27649419 27649610 + AL031729.1 processed_pseudogene 11 10 16 15 8 4 13 12 8 ENSG00000235914 chr20 14884253 14929515 - MACROD2-AS1 antisense 100379174 0 0 0 0 0 0 0 0 0 ENSG00000235916 chrX 53825887 53826309 + AC233279.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000235917 chr9 5098341 5099325 + MTCO2P11 unprocessed_pseudogene 10 1 15 1 9 19 4 13 4 ENSG00000235919 chr1 155562042 155563944 + ASH1L-AS1 antisense 645676 51 42 61 22 25 53 51 16 27 ENSG00000235920 chr7 11820317 11821294 - AC073109.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000235922 chr20 46863563 46864104 - AL354766.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235924 chr10 79981839 79982212 + ZNRF2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235926 chr7 100928370 100928540 + RPS29P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235927 chr1 77881348 77889539 - NEXN-AS1 antisense 374987 1 1 3 0 2 0 0 0 0 ENSG00000235929 chrX 14977959 14978463 - TPT1P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235930 chr12 10770305 10770605 + HSPE1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235931 chr10 59955430 59960913 - LINC01553 lincRNA 283025 0 0 0 1 0 0 0 0 0 ENSG00000235932 chr9 64737403 64737755 - AL359955.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235933 chr1 116164284 116166241 + LINC01779 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235934 chr2 170816293 170818037 - AC007405.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235937 chr2 54029552 54030682 - AC008280.1 processed_pseudogene 2 0 0 0 0 0 0 0 3 ENSG00000235939 chr10 49419277 49472903 + AL138760.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235940 chr10 20804293 20804577 + MTND1P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235942 chr1 152842868 152843983 + LCE6A protein_coding 448835 GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000235943 chr3 171894436 171895240 + TMEM212-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000235944 chr7 5823160 5854365 + ZNF815P transcribed_unprocessed_pseudogene 25 25 29 55 33 29 36 37 27 ENSG00000235945 chr7 116873454 116876376 - AC002543.1 processed_pseudogene 5 12 16 11 13 14 10 5 6 ENSG00000235946 chrX 104062542 104063037 - AC234783.1 processed_pseudogene 0 0 0 0 0 0 8 0 0 ENSG00000235947 chr3 4749192 4751590 - EGOT lincRNA 100126791 0 0 2 3 0 0 0 0 1 ENSG00000235949 chr2 154696462 154697817 - AC061961.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000235951 chr2 204065706 204067363 + AC009965.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235954 chr22 27919376 28008581 + TTC28-AS1 processed_transcript 284900 65 90 62 55 69 56 76 58 67 ENSG00000235955 chr7 45816216 45819016 - CICP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235957 chr13 49187479 49187670 - COX7CP1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000235958 chr20 3106913 3150867 + UBOX5-AS1 antisense 100134015 23 39 29 24 24 46 44 17 29 ENSG00000235959 chr2 95640181 95640604 - AC009237.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235961 chrX 153072482 153075018 + PNMA6A protein_coding 84968 GO:0005515, protein binding, 1 0 0 0 0 0 0 0 0 ENSG00000235962 chr10 33057615 33058407 - RPL7AP53 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235963 chr6 29907783 29908645 - MCCD1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235964 chr10 38091764 38092051 - FXYD6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235965 chr21 19046310 19047684 - AP000431.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235967 chr7 133727368 133727734 - COX5BP3 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000235968 chr2 68023694 68024766 - AC079112.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235969 chr22 16503304 16509475 + CHEK2P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235972 chr6 150040547 150042033 - AL355497.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235974 chr19 58012589 58025926 - VN2R19P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235975 chrX 138806374 138807091 + Z83313.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000235976 chrX 101989481 101989872 - Z80107.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235978 chr3 4814294 4887293 - AC018816.1 antisense 17 21 28 25 23 20 8 13 6 ENSG00000235979 chr17 19417804 19492991 - AC004448.2 lincRNA 0 3 0 3 0 0 1 4 1 ENSG00000235981 chrY 24142358 24157843 + AC023274.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235984 chr13 92701389 92721614 - GPC5-AS1 antisense 100873969 0 0 0 0 0 0 0 0 0 ENSG00000235988 chr1 148317683 148318013 - AC245100.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235989 chr22 30922308 30932449 + MORC2-AS1 antisense 150291 13 8 8 19 34 33 16 29 12 ENSG00000235990 chr1 241916123 241916543 + RPL23AP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235991 chrX 155137111 155156503 + BX293995.1 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000235992 chr22 15749156 15750825 - GRAMD4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235993 chr2 229701794 229702148 + AC007559.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000235994 chr6 167975924 167979776 - HGC6.3 processed_transcript 100128124 0 0 0 0 0 0 0 0 0 ENSG00000235995 chr2 169115195 169115680 + UBE2V1P6 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000235996 chr20 19212852 19213477 - AL136090.1 antisense 2 1 2 0 2 1 3 0 0 ENSG00000235997 chr2 30346659 30352431 + LINC01936 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000235998 chr6 132559024 132559265 + TAAR7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236003 chr22 20522070 20523870 - AC007731.4 antisense 0 1 7 0 4 0 0 0 5 ENSG00000236004 chr1 52189916 52190309 - AL139156.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236005 chr9 107534390 107535162 + AL389915.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236007 chr2 211778273 211779763 + MTCO1P46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236008 chr2 8506446 8592903 - LINC01814 lincRNA 101929567 31 26 23 25 29 22 33 18 11 ENSG00000236009 chr1 21415898 21417492 + AL592309.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236012 chr1 111380291 111380571 + HIGD1AP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236013 chr6 139976352 140093721 + AL357146.1 lincRNA 100507477 0 0 0 0 0 0 0 0 0 ENSG00000236015 chr7 39569376 39570198 - AC011290.2 processed_pseudogene 0 0 2 0 0 4 0 0 0 ENSG00000236017 chrX 1401769 1414028 + ASMTL-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236018 chr7 157197600 157198511 - AC004898.1 processed_pseudogene 10 4 4 6 8 6 0 1 1 ENSG00000236021 chr1 176207648 176229330 + AL359265.3 antisense 12 8 17 6 6 18 6 4 7 ENSG00000236022 chr17 19203825 19214045 + AC106017.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236024 chr9 129712896 129718635 - PRRX2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236025 chr1 190781787 190781995 + AL139135.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236026 chr2 95606924 95607152 + AC009237.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236027 chr11 125788111 125791600 + PATE3 protein_coding 100169851 GO:0005576, extracellular region, 0 0 0 0 0 0 0 0 0 ENSG00000236028 chr20 46901143 46901726 - AL354766.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236031 chr1 243545532 243548329 + AL591721.1 antisense 0 0 0 1 0 0 0 2 1 ENSG00000236032 chr3 98147479 98156614 + OR5H14 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403273 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000236035 chr1 203656969 203657760 - AL513343.1 processed_pseudogene 0 0 0 0 0 2 2 0 2 ENSG00000236036 chr13 35697524 35699256 + LINC00445 lincRNA 100507114 0 0 0 0 0 0 0 0 0 ENSG00000236039 chr7 17405479 17558909 - AC019117.1 lincRNA 101927630 0 0 0 3 3 4 1 1 0 ENSG00000236040 chr1 111250254 111256715 + CHIAP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236041 chr11 2771356 2771577 + COX6CP18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236042 chrX 128098032 128098529 - Z74696.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236044 chr13 51966742 51967149 + FABP5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236045 chr1 15334166 15335464 - AL031283.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236046 chr7 50839363 50841992 - AC004920.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236047 chr2 202520401 202520989 + AC073410.1 processed_pseudogene 0 0 0 0 0 2 0 4 0 ENSG00000236048 chr7 12471352 12472545 + AC013470.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236049 chr2 150552532 150572221 - LINC01920 lincRNA 101929260 0 0 0 0 0 0 0 0 0 ENSG00000236051 chr13 77026767 77129717 + MYCBP2-AS1 processed_transcript 100874212 225 194 269 93 83 96 97 85 116 ENSG00000236052 chr22 34017473 34188425 + LINC01643 lincRNA 105373010 0 0 0 0 0 0 0 0 0 ENSG00000236053 chr13 109310135 109311773 + LINC01067 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236054 chr22 32583300 32584204 + Z82246.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236056 chr21 29222321 29223257 + GAPDHP14 processed_pseudogene 33 91 25 40 98 42 46 83 29 ENSG00000236058 chr10 118872054 118872602 - RPL17P36 processed_pseudogene 0 0 0 0 0 1 0 0 1 ENSG00000236060 chr9 72007881 72008136 - HSPB1P1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000236062 chr3 12257801 12258460 - GSTM5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236064 chrX 107894597 107935980 - AL034399.2 antisense 101928335 0 0 0 0 0 0 0 0 0 ENSG00000236065 chr1 32987075 33032469 + AL020995.1 antisense 7 10 11 10 1 0 2 3 0 ENSG00000236068 chr5 64404512 64486615 - AC091862.1 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236069 chr1 192517190 192538102 + AL136987.1 lincRNA 0 0 0 0 2 9 3 0 1 ENSG00000236072 chrX 34387722 34388464 + AL592043.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236073 chr1 21073639 21073753 - AL627311.1 processed_pseudogene 0 1 3 0 0 0 0 0 0 ENSG00000236075 chr6 40501631 40502393 - AL359475.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000236076 chr13 20102701 20103230 + LINC01072 lincRNA 104355137 0 0 0 0 0 0 0 0 0 ENSG00000236077 chrX 116669810 116680303 - BX119904.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236078 chr7 47621939 47629893 + LINC01447 lincRNA 101929086 0 0 0 0 0 0 0 0 0 ENSG00000236079 chr22 44413485 44414814 - Z85994.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236080 chrX 115069237 115069846 + YAP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236081 chr7 1738630 1742291 - ELFN1-AS1 lincRNA 101927125 0 0 0 0 0 0 0 0 0 ENSG00000236083 chr9 35859055 35859980 - OR13E1P unitary_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000236085 chr1 103569553 103570674 + ACTG1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236086 chr6 2341450 2341711 + HMGN2P28 processed_pseudogene 0 1 0 1 0 4 0 2 0 ENSG00000236088 chr17 13756478 14069495 - COX10-AS1 processed_transcript 100874058 10 9 16 28 9 43 23 6 5 ENSG00000236090 chr2 41819747 41820754 + LDHAP3 processed_pseudogene 0 0 1 0 0 0 0 1 0 ENSG00000236091 chrX 134949549 134953382 + LINC02243 lincRNA 340581 0 0 0 0 0 0 0 0 0 ENSG00000236094 chr13 30882551 30883395 + LINC00545 lincRNA 440132 0 3 1 1 1 0 8 2 0 ENSG00000236095 chr9 94900429 94904754 + AL807757.2 sense_intronic 0 0 2 2 0 0 4 0 0 ENSG00000236097 chr22 15349467 15350043 + BNIP3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236098 chr1 94318479 94324569 - AC097059.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236099 chr2 27158563 27159229 - AC013403.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236101 chr1 234026851 234027227 - RAC1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236102 chr7 157057709 157058514 - AC006967.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236104 chr6 33314406 33317942 - ZBTB22 protein_coding 9278 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003677, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000236105 chr7 127295620 127296203 + PRELID3BP10 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000236106 chr2 5726449 5730342 + AC010729.1 lincRNA 112268411 0 0 0 0 0 0 0 0 0 ENSG00000236107 chr2 165957399 166301784 + AC010127.1 antisense 101929680 10 2 2 2 2 3 8 1 0 ENSG00000236108 chr1 205134646 205134950 + AC093422.3 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000236109 chr2 104583152 104585354 + AC013402.3 lincRNA 105373525 0 0 0 0 0 0 0 0 0 ENSG00000236110 chr9 36021692 36022113 + OR2AM1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236111 chr1 45781277 45781957 + AL603882.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236114 chr10 43523256 43525217 + AL450326.2 unprocessed_pseudogene 0 3 0 3 4 0 4 2 0 ENSG00000236115 chr9 92205356 92210158 + AL136097.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236116 chr2 227616998 227617790 - AC064853.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236117 chr22 43400331 43409681 + LINC01639 lincRNA 105373054 0 0 0 0 0 0 0 0 0 ENSG00000236118 chr22 22155582 22155942 + AC245517.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236119 chr21 36082859 36090414 + AP000688.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236120 chrX 5653421 5726305 - AC110995.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236121 chr20 31341371 31344471 - HAUS6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236123 chr19 43278933 43284318 - CEACAMP11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236124 chr2 112981166 112981434 - HMGN2P23 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000236125 chr8 7337115 7338707 + USP17L4 protein_coding 645402 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, regulation of apoptotic process, protein deubiquitination, 0 0 0 0 0 0 0 0 0 ENSG00000236126 chrX 120972746 120976068 - CT47A3 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. 728082 0 0 0 0 0 0 0 0 0 ENSG00000236129 chr11 131187022 131189753 + AP002856.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236130 chr9 97699625 97853080 - PTCSC2 lincRNA 101928337 0 0 0 0 0 0 0 0 0 ENSG00000236131 chrY 14907898 14908068 + MED13P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236132 chr22 31816379 31817491 - AL022331.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000236133 chr13 77989372 77990646 - LINC01069 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236136 chr1 209744373 209745214 + ADORA2BP1 processed_pseudogene 0 2 0 7 6 4 8 1 18 ENSG00000236137 chr1 117025482 117059490 - AL445231.1 antisense 101929099 0 16 12 5 3 8 1 0 12 ENSG00000236138 chr3 75668931 75670185 + DUX4L26 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000236140 chr1 145286610 145287755 - AC245014.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000236141 chr2 103865746 103869688 - AC013727.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236144 chr19 35540738 35546029 - TMEM147-AS1 antisense 100506469 11 5 13 22 9 23 24 4 15 ENSG00000236145 chr2 121178327 121182580 + AC079988.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236146 chr9 129380136 129380470 - AL353803.3 processed_pseudogene 0 0 2 0 5 4 3 0 0 ENSG00000236148 chr2 64347193 64347741 - RPL23AP37 processed_pseudogene 1 1 0 3 1 0 0 0 3 ENSG00000236151 chr20 24142590 24144386 - AL110503.1 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000236152 chr3 6773037 6773343 - MRPS36P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236153 chr2 180979427 180980090 - AC104076.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000236154 chr10 69575807 69577154 + AL450311.2 antisense 0 0 0 0 4 0 0 0 0 ENSG00000236155 chr1 26209741 26229840 + AL355877.1 transcribed_unprocessed_pseudogene 101928303 0 0 0 0 0 0 0 0 0 ENSG00000236156 chr9 37434177 37434586 + CHCHD4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236158 chr3 36169767 36170448 - RFC3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236159 chr20 37165774 37166312 - AL031659.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236160 chrX 26657291 26657507 - AC005345.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236162 chr2 10717773 10720952 + AC092687.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236164 chr6 46758296 46761158 - AL161618.1 lincRNA 0 1 0 2 3 2 4 2 1 ENSG00000236165 chr3 36976316 36976840 + PRADC1P1 processed_pseudogene 4 2 1 5 4 1 6 5 0 ENSG00000236166 chr6 132085084 132099279 + AL021408.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236167 chr2 75455994 75456578 - GAPDHP57 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236168 chr20 23980585 23980734 - AL133466.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236170 chr14 105919502 105919518 - IGHD1-1 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000236171 chr10 117196168 117196654 - RPL12P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236172 chr2 6615389 6650535 - MIR7515HG lincRNA 102800315 0 0 0 0 0 0 0 0 0 ENSG00000236173 chr6 169809318 169810102 - AL049612.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236175 chr11 4278705 4279192 + SSU72P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236176 chr13 89548691 89553804 - LINC00353 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236179 chr1 13104403 13105689 - PRAMEF35P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236180 chr1 42570970 42571390 + AL445669.2 processed_pseudogene 0 2 1 0 0 4 0 1 0 ENSG00000236182 chr3 188989382 188990135 - AC009319.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236184 chr9 32979560 32980403 - TCEA1P4 processed_pseudogene 5 21 11 3 8 14 2 9 5 ENSG00000236185 chrX 95610578 95610957 + HNRNPDLP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236187 chrX 18535079 18536120 + GJA6P processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000236188 chrX 3659487 3668192 + PRKX-AS1 antisense 100873944 0 1 0 1 0 0 0 0 0 ENSG00000236189 chrX 111624210 111624726 - RPL18AP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236190 chrX 86888586 86888816 + Z82210.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236191 chr8 68525517 68525906 - RPS15AP25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236193 chr2 213155806 213167712 - LINC01953 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236194 chr17 42270517 42272683 - AC099811.1 sense_intronic 57 52 65 74 150 127 166 197 166 ENSG00000236195 chr7 17962079 17963029 + RNMTL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236197 chr7 95035731 95214332 - AC002429.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236199 chr9 2041900 2046023 - AL359076.1 antisense 52 49 54 36 65 111 68 45 81 ENSG00000236200 chr1 43699765 43708138 - KDM4A-AS1 antisense 56 72 75 61 80 102 82 66 74 ENSG00000236202 chr3 7519741 7560333 - GRM7-AS1 antisense 100873937 0 0 0 0 1 0 0 0 0 ENSG00000236204 chr2 18986451 19348067 - LINC01376 lincRNA 400945 4 0 0 1 0 0 4 3 1 ENSG00000236205 chrX 142147862 142148866 - AL023773.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236206 chr1 165598463 165623331 + AL356441.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236208 chr10 49296112 49299018 - C10orf71-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236209 chr2 74919555 74924846 - AC104135.1 lincRNA 0 1 0 0 2 0 0 0 0 ENSG00000236211 chr2 130273908 130275449 + MTCO1P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236212 chr7 34209526 34256343 + AC009262.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236213 chr2 37600136 37646698 + AC006369.1 antisense 1080 1006 1624 516 396 687 806 478 799 ENSG00000236216 chr1 21397987 21398362 + PPP1R11P1 processed_pseudogene 1 0 7 4 0 1 2 0 0 ENSG00000236217 chr10 80031968 80032393 - C1DP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236226 chr7 103030104 103031354 + AC073127.1 antisense 5 1 0 0 1 1 1 3 0 ENSG00000236229 chr3 193155456 193157208 - VEZF1P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000236230 chr1 222089169 222387434 - AL356108.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236231 chr2 176524879 176531683 - AC017048.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236232 chr7 112374324 112375429 + MTCYBP24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236234 chr17 45452844 45464065 + AC091132.2 antisense 1 0 0 0 1 3 0 0 0 ENSG00000236235 chr22 15290718 15297196 + AP000542.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236238 chr7 131665507 131665858 + AC093106.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236240 chr13 92484606 92510094 + GPC5-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000236241 chr3 175675087 175676801 - AC119744.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236242 chr13 109163902 109201483 - MYO16-AS1 antisense 100885782 14 4 8 8 3 3 4 10 9 ENSG00000236243 chrX 98251679 98252543 + RPL6P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236244 chr1 234268583 234272500 - AL122008.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236246 chr3 198121479 198123232 - AC073135.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236248 chr11 5362615 5362849 + AC104389.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236252 chr9 65219987 65230861 - AL512605.1 transcribed_processed_pseudogene 101928381 0 0 0 0 0 0 0 0 0 ENSG00000236253 chr1 53413149 53440020 - SLC25A3P1 transcribed_processed_pseudogene 163742 0 0 0 0 0 0 0 0 0 ENSG00000236254 chr9 5107937 5109290 + MTND4P14 unprocessed_pseudogene 10 4 6 9 10 8 24 12 13 ENSG00000236255 chr2 117833937 117841658 + AC009404.1 lincRNA 35 40 26 255 260 233 228 133 111 ENSG00000236256 chrX 97431286 97642589 - DIAPH2-AS1 antisense 10824 GO:0005575, cellular_component, GO:0007165, signal transduction, 5 1 5 0 4 2 1 1 0 ENSG00000236257 chr1 158454198 158455273 + EI24P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236258 chr13 29865959 29866169 - TIMM8BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236259 chr2 68125265 68125747 + PPIAP64 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236261 chr7 57652875 57653208 + AC064862.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236262 chr11 70646165 70647562 + SHANK2-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236263 chr1 155211151 155213819 - AC234582.2 antisense 210 195 282 186 194 226 170 111 160 ENSG00000236264 chr11 2335135 2347685 - RPL26P30 transcribed_processed_pseudogene 1 1 7 1 0 2 1 4 1 ENSG00000236266 chr1 7810242 7827342 - Z98884.1 antisense 2 1 7 29 23 16 28 6 13 ENSG00000236267 chr11 116813204 116814003 - AP006216.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236268 chr1 82973882 82986208 - LINC01361 lincRNA 101927498 0 0 0 0 0 0 0 0 0 ENSG00000236272 chr22 43212674 43213661 + Z82214.2 antisense 105373051 0 0 0 0 0 0 0 0 0 ENSG00000236274 chr1 35509742 35511438 + AC004865.1 processed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000236276 chrX 43949732 43969620 + NDP-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236277 chr13 79090783 79094119 + NIPA2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236278 chr1 198679139 198680033 - PEBP1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236279 chr7 139523856 139544984 + CLEC2L protein_coding 154790 GO:0016021, integral component of membrane, GO:0030246, carbohydrate binding, 0 0 0 1 0 0 0 0 0 ENSG00000236280 chr7 76968346 76968518 + AC114737.2 processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000236281 chr7 131753746 131754252 - NDUFB9P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236283 chr2 164840672 165208261 + AC019197.1 antisense 0 1 1 4 1 0 0 2 0 ENSG00000236284 chr7 63367427 63368156 - VN1R31P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236285 chrX 32205902 32206738 + NPM1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236287 chr11 10812074 10858796 - ZBED5 protein_coding This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]. 58486 GO:0000785, chromatin, GO:0046872, GO:0003677, GO:0000981, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0006357, regulation of transcription by RNA polymerase II, 302 313 377 338 352 341 300 240 305 ENSG00000236289 chr2 16050427 16085801 + GACAT3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236290 chr1 52573114 52573816 + EEF1GP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236292 chr1 216194051 216204366 + AC138024.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236295 chr2 216870441 216873932 - AC007557.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236296 chr4 143559472 143561460 + GUSBP5 transcribed_processed_pseudogene 441046 0 0 0 1 0 0 0 0 0 ENSG00000236297 chr3 193578812 193593090 - AC048351.1 transcribed_processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000236299 chr7 63888200 63900794 - AC092634.5 lincRNA 0 2 0 5 3 3 2 0 7 ENSG00000236300 chr2 143098123 143098417 - MTND4LP12 processed_pseudogene 3 2 8 1 5 3 7 2 2 ENSG00000236301 chr11 3218332 3223131 + MRGPRG-AS1 antisense 283303 0 0 0 0 0 0 0 0 0 ENSG00000236303 chr10 130213488 130483193 + AL157712.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236304 chr11 76657056 76663866 + AP001189.1 antisense 107984360 0 0 4 0 3 0 10 0 0 ENSG00000236305 chr7 100837314 100852616 - SLC12A9-AS1 antisense 105375430 1 4 5 0 2 0 0 3 0 ENSG00000236306 chr9 25780056 25812968 + LINC01241 lincRNA 101929582 0 0 0 0 0 0 0 0 0 ENSG00000236307 chr2 111887914 111888741 + EEF1E1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236308 chr10 100190036 100190747 + AL138921.2 antisense 16 18 29 14 4 12 8 3 5 ENSG00000236311 chr10 101089321 101131126 - TLX1NB lincRNA 100038246 0 0 0 0 0 0 0 0 0 ENSG00000236312 chr19 22368599 22368952 - RPL34P34 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000236313 chr10 37348616 37349572 + VN1R53P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236316 chr9 90742526 90743380 - OR7E109P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236317 chr1 212855175 212855366 - AC104333.2 processed_pseudogene 0 1 1 3 1 0 0 0 7 ENSG00000236318 chr7 17374867 17467256 + KCCAT333 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236319 chr17 55526964 55561577 - AC105021.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000236320 chr17 35548125 35558098 - SLFN14 protein_coding The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]. 342618 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0043022, GO:0043022, GO:0005524, GO:0004521, GO:0004521, ribosome binding, ribosome binding, ATP binding, endoribonuclease activity, endoribonuclease activity, GO:0090502, GO:0071287, GO:0071286, GO:0036345, GO:0016075, GO:0016075, GO:0006402, GO:0006402, RNA phosphodiester bond hydrolysis, endonucleolytic, cellular response to manganese ion, cellular response to magnesium ion, platelet maturation, rRNA catabolic process, rRNA catabolic process, mRNA catabolic process, mRNA catabolic process, 2 5 4 13 1 5 5 1 2 ENSG00000236323 chr22 22185941 22186619 + BMP6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236324 chr6 157885114 157892786 - AL035634.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000236325 chr22 17192936 17193308 + AC005300.1 processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000236326 chr6 116244187 116244728 - AL050331.2 antisense 13 4 11 18 8 17 6 5 11 ENSG00000236327 chr1 153890595 153890865 + AL831737.1 processed_pseudogene 0 1 0 0 1 0 1 0 0 ENSG00000236330 chr2 110967834 110968719 + RPL5P9 processed_pseudogene 0 1 0 0 0 2 0 0 0 ENSG00000236332 chr21 27361164 27395787 + AP001604.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236333 chr12 72253508 72274907 - TRHDE-AS1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000236334 chr1 148479824 148483679 - PPIAL4G protein_coding 644591 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0016018, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 0 0 0 0 0 0 0 0 0 ENSG00000236335 chr1 30409560 30411638 - AL161638.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236336 chr6 4774526 4775408 - AL022725.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236337 chrX 147946941 147947583 + FMR1-IT1 sense_intronic 30 38 33 45 58 63 44 37 40 ENSG00000236339 chr13 28778558 28778937 + POM121L13P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236340 chr7 127215127 127229921 + AC000099.1 antisense 101928333 0 0 0 0 0 0 0 0 0 ENSG00000236341 chr1 56963886 56996757 + AL161740.1 antisense 0 0 0 0 0 0 4 1 0 ENSG00000236343 chr7 145005058 145006135 + EI24P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236345 chr6 63806836 63822642 + AL354719.2 antisense 112935969 97 87 122 28 62 58 43 55 75 ENSG00000236347 chr6 113531118 113543793 + AL513123.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236348 chr2 17385091 17386417 + PSMC1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236349 chr12 94548241 94549536 + SUCLG2P2 processed_pseudogene 23 19 16 21 30 41 23 30 24 ENSG00000236352 chr20 53940160 53942508 + AC005220.1 antisense 6 7 9 2 3 10 13 1 8 ENSG00000236354 chr13 38533343 38545299 - LINC00437 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236355 chr6 38714051 38715217 - AL391415.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236356 chr2 143799467 143819599 + AC079584.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236357 chr3 176068042 176068908 - EI24P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236358 chr1 234357006 234365828 + AL355472.3 antisense 0 0 0 7 2 0 1 0 1 ENSG00000236359 chr11 5330592 5331360 - OR51B8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236360 chr1 52993201 52993702 - AL445183.3 processed_pseudogene 2 1 1 2 8 7 7 1 7 ENSG00000236362 chrX 49551278 49568218 + GAGE12F protein_coding 100008586 0 0 0 0 0 0 0 0 0 ENSG00000236364 chr1 165890795 165900683 - AL358115.1 antisense 2 1 1 2 2 0 0 3 0 ENSG00000236365 chrX 82875649 82875885 + AL008987.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236366 chr6 142526455 142637889 - AL359313.1 lincRNA 153910 0 0 0 0 0 0 0 0 0 ENSG00000236371 chrX 120982476 120985788 - CT47A1 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. This locus is the most telomeric of the cluster.[provided by RefSeq, Sep 2010]. 728096 0 0 0 0 0 0 0 0 0 ENSG00000236372 chr1 232174932 232180113 - AL353052.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236373 chr10 90402521 90540805 - AL391704.2 lincRNA 101926942 0 0 0 0 0 0 0 0 0 ENSG00000236375 chr10 68010205 68010862 - POU5F1P5 processed_pseudogene 1 0 4 0 5 7 0 2 2 ENSG00000236376 chr9 75579669 75588548 + AL353780.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236377 chr17 32905662 32906584 + AC084809.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236378 chr6 135807148 135808466 - AL133319.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236379 chrY 25168599 25169841 + ZNF736P4Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236380 chr3 21405737 21406508 + VENTXP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236382 chr21 44702221 44702791 + KRTAP10-13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236383 chr17 43216941 43305397 - CCDC200 protein_coding 100874261 33 29 42 28 40 47 31 28 16 ENSG00000236384 chr21 41711520 41715775 - LINC00479 lincRNA 150135 1 0 0 1 0 0 0 0 0 ENSG00000236385 chr3 177621382 177628287 - AC026355.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236386 chr7 131893822 131894074 + AC009518.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236387 chr20 4431161 4431673 - AL139350.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236388 chr20 34441592 34442025 - ITCH-AS1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000236389 chr6 134706060 134707349 - AL121970.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236390 chr1 201673105 201674144 - AC092800.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236391 chr2 173338219 173356208 - AC092573.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236393 chrX 40262917 40287720 + AC091806.1 lincRNA 101927476 0 0 0 0 0 0 0 0 0 ENSG00000236394 chr9 137052662 137053375 + AL807752.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236395 chr7 131702269 131702653 - AC093106.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236396 chr18 11609596 11610612 + SLC35G4 protein_coding 646000 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000236397 chr2 113599036 113601261 - DDX11L2 unprocessed_pseudogene 2 7 0 9 11 0 5 9 4 ENSG00000236398 chr7 143183419 143184435 + TAS2R39 protein_coding The protein encoded by this gene is a bitter taste receptor that detects green tea catechins, soy isoflavones, and theaflavins. The encoded protein is gustducin-linked and may activate alpha gustducin. This gene is intronless. [provided by RefSeq, Dec 2015]. 259285 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 3 0 0 0 0 0 ENSG00000236400 chr21 30741780 30742595 - KRTAP21-4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236401 chr1 187706561 187708898 + SLC4A1APP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236403 chr9 134937151 134943195 + AL353611.1 lincRNA 1 0 1 1 0 6 1 0 0 ENSG00000236404 chr9 2421597 2643359 - VLDLR-AS1 antisense 401491 3 5 3 0 0 5 0 1 0 ENSG00000236405 chr6 30363112 30364280 - UBQLN1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236407 chr1 80283352 80283970 + HMGB1P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236408 chr7 154838388 154865483 - AC073336.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236409 chr3 47010824 47013465 + NRADDP transcribed_unitary_pseudogene 9 11 21 46 28 12 34 20 41 ENSG00000236411 chr3 37789921 37790445 - NDUFAF4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236412 chr3 188001700 188003406 - AC092941.2 lincRNA 1 0 0 1 0 0 0 0 1 ENSG00000236413 chrX 91422309 91422538 + AL662874.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236414 chr7 10702676 10707406 + AC004415.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236417 chr10 87386685 87390203 - CTSLP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236420 chr10 8619933 8620608 + CHCHD3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236423 chr1 3900372 3917225 + LINC01134 lincRNA 100133612 3 1 2 2 0 15 0 1 0 ENSG00000236424 chrY 9527880 9530682 + TSPY10 protein_coding 100289087 GO:0005634, nucleus, GO:0042393, GO:0005515, GO:0003682, histone binding, protein binding, chromatin binding, GO:0030154, GO:0007506, GO:0007283, GO:0006334, cell differentiation, gonadal mesoderm development, spermatogenesis, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000236425 chr3 195561215 195561580 - AC069213.2 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000236426 chr10 119330233 119336182 - AL583824.1 antisense 4 5 4 4 21 5 6 7 6 ENSG00000236427 chr1 152205858 152207057 + AL589986.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236429 chrY 18741843 18741986 - GPM6BP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236430 chr1 203872574 203874187 - KRT8P29 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000236431 chr2 95536117 95536495 - AC009237.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236432 chr2 227221052 227325201 - AC097662.1 antisense 0 0 0 0 0 0 6 1 0 ENSG00000236433 chr13 68331338 68331613 - RPL37P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236434 chr1 51264916 51266074 - AL162430.2 antisense 4 7 7 15 11 19 3 4 14 ENSG00000236435 chrY 7687739 7689548 - TSPY12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236436 chr2 20859771 20861661 + AC012361.1 lincRNA 101928271 0 0 0 0 0 0 0 0 0 ENSG00000236437 chr11 116496899 116500630 - LINC02151 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236438 chr3 198153287 198222513 + FAM157A transcribed_unprocessed_pseudogene 2123 2077 2892 1688 2311 2957 2215 1523 2099 ENSG00000236439 chr1 202471864 202472117 - AC099336.2 processed_pseudogene 8 4 14 17 14 22 14 14 15 ENSG00000236440 chr2 140683360 140683888 - AC117947.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236442 chr10 45151445 45151915 - ANKRD54P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236444 chr13 30422488 30428616 + UBE2L5 protein_coding 171222 GO:0005634, GO:0000151, nucleus, ubiquitin ligase complex, GO:0061631, GO:0031625, GO:0016874, GO:0005524, ubiquitin conjugating enzyme activity, ubiquitin protein ligase binding, ligase activity, ATP binding, GO:0070979, GO:0006511, GO:0000209, protein K11-linked ubiquitination, ubiquitin-dependent protein catabolic process, protein polyubiquitination, 0 0 0 0 0 0 3 0 3 ENSG00000236445 chr2 218975393 218989940 + LINC00608 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236446 chrX 120872603 120875929 - CT47B1 protein_coding 643311 0 0 0 0 0 0 0 0 0 ENSG00000236447 chr5 81991995 81992481 + ATG10-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000236449 chr2 174547141 174774827 + AC010894.3 antisense 18 49 30 19 88 58 41 51 33 ENSG00000236450 chr9 62357834 62358140 - AL590399.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236451 chr2 220450679 220704566 + AC067956.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236452 chr3 34203244 34268811 + AC123023.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236453 chr7 94022833 94066661 + AC003092.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236456 chr20 34245953 34246537 - AL035458.1 processed_pseudogene 0 1 1 0 0 0 2 0 1 ENSG00000236457 chr17 2215482 2216015 - AC090617.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000236459 chr3 42889361 42890306 + HNRNPA1P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236460 chr7 31941261 31941583 + SNX2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236461 chr9 115119539 115138409 - AL162425.1 lincRNA 101928748 0 0 0 0 0 0 0 0 0 ENSG00000236463 chr13 30316360 30319903 - LINC00427 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000236464 chr22 26161834 26164303 + LINC02559 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236466 chr6 46492052 46532758 + AL359633.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236467 chr10 76888044 76980624 + KCNMA1-AS1 antisense 101929328 0 3 0 3 1 0 0 1 0 ENSG00000236468 chr1 199387141 199388475 + AC099335.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236469 chr2 71002531 71064743 - AC007881.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236471 chr21 15067070 15067837 + AF127577.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236472 chr17 50135586 50146176 + AC002401.1 antisense 385 403 501 159 296 253 209 257 248 ENSG00000236473 chr17 41448183 41454055 - KRT43P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236474 chr20 18420160 18421454 - GCNT1P1 processed_pseudogene 0 0 1 0 0 0 0 0 5 ENSG00000236475 chr6 30238301 30242279 + TRIM26BP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236476 chr1 46742329 46743133 + AL593856.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236477 chrY 12244752 12245457 + RPS24P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236478 chr2 216174896 216176032 - AC012513.2 processed_pseudogene 4 6 1 7 7 0 4 2 0 ENSG00000236480 chr1 114535995 114537840 + PKMP1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000236481 chr16 26584755 26594813 - LINC02195 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000236483 chr19 12502675 12504106 + MTND2P40 unprocessed_pseudogene 2 3 2 3 4 0 0 0 4 ENSG00000236484 chr1 161378707 161379358 - RRM2P2 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000236485 chr2 131983937 131994161 - LINC01945 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236487 chrX 24681909 24682634 + AC079168.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236489 chr3 185606575 185606873 + AC133473.1 processed_pseudogene 7 18 3 2 1 1 6 1 3 ENSG00000236491 chrX 135180255 135194679 - AC234771.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236493 chr10 92668745 92669743 - EIF2S2P3 processed_pseudogene 0 3 2 5 1 5 0 2 4 ENSG00000236494 chr7 33793168 33803156 - AC008080.4 lincRNA 0 1 0 0 1 0 0 2 0 ENSG00000236495 chr10 14652689 14661691 + AL158168.1 antisense 1 0 2 0 0 0 5 0 0 ENSG00000236496 chr9 2875442 2876427 - GPS2P1 processed_pseudogene 2 5 5 1 5 2 2 1 5 ENSG00000236497 chr1 232727254 232742715 - LINC01744 lincRNA 101927683 0 0 0 1 0 0 0 0 0 ENSG00000236498 chr2 61868432 61886082 + AC107081.2 antisense 4 8 17 17 13 32 14 2 5 ENSG00000236499 chr22 20206397 20208524 + LINC00896 lincRNA 150197 0 0 0 0 0 0 0 0 0 ENSG00000236500 chr1 15614643 15614867 - CD24P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236501 chr2 176990508 177164516 - AC074286.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236502 chr2 44940154 44941873 - SIX3-AS1 lincRNA 100506108 GO:0010468, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000236503 chr7 136262558 136263017 - AC009784.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236504 chr17 20647287 20681799 + AC087499.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236505 chr1 40563534 40563659 + AL356379.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236507 chr9 89801727 89803061 - BX470209.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236508 chr3 193307244 193314362 + ATP13A5-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236509 chrX 134607157 134607632 + RPL21P133 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236510 chr7 3642815 3643784 - AC011284.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000236511 chr9 3181589 3198517 + LINC01231 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236512 chr6 7620422 7620878 + AL390026.1 processed_pseudogene 0 1 2 0 0 0 0 0 0 ENSG00000236513 chrX 4627200 4633572 - AC074035.1 lincRNA 101928201 0 0 0 0 0 0 0 0 0 ENSG00000236514 chr10 37857740 37859110 + AL135791.1 antisense 0 1 0 4 0 5 5 1 0 ENSG00000236516 chr2 131299220 131300444 - KLF2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236519 chr21 44802577 44804717 + LINC01424 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236520 chr13 94154193 94187991 - GPC6-AS1 antisense 100873972 0 0 0 0 0 0 0 0 0 ENSG00000236521 chr9 80357029 80360338 - NPAP1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236523 chr1 203255743 203256475 + NPM1P40 processed_pseudogene 0 1 0 1 0 1 0 0 0 ENSG00000236525 chr2 102433957 102435340 + AC007278.2 sense_intronic 108 160 61 56 86 31 36 41 14 ENSG00000236526 chr20 11909404 11918677 - AL035448.1 antisense 2 0 1 0 2 0 0 1 0 ENSG00000236527 chr20 62872250 62873076 - ARF4P2 processed_pseudogene 0 0 0 1 5 0 1 0 0 ENSG00000236528 chr1 25859613 25863420 + AL033528.2 antisense 6 13 3 2 18 1 3 9 14 ENSG00000236529 chr7 65840212 65840596 + AC093582.1 processed_pseudogene 2 4 1 0 1 0 3 0 1 ENSG00000236530 chr4 80079532 80081122 + KPNA2P1 processed_pseudogene 1 5 9 6 30 17 11 26 13 ENSG00000236531 chr7 68091223 68119209 + AC006013.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236532 chr21 28116094 28228667 - LINC01695 lincRNA 101927973 0 0 0 0 0 0 0 0 0 ENSG00000236533 chr2 41850203 41850601 - AC009413.1 processed_pseudogene 0 0 0 1 0 0 0 0 2 ENSG00000236534 chr13 71675067 71675469 + H3F3BP1 processed_pseudogene 2 2 0 2 2 0 0 0 3 ENSG00000236535 chr1 174009267 174016206 - RC3H1-IT1 sense_intronic 4 3 2 2 0 0 1 0 0 ENSG00000236536 chr7 19119933 19121916 + AC003986.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236538 chr2 52071355 52077197 + ZNF863P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236539 chr1 179447602 179457315 - HNRNPA1P54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236540 chr22 20058030 20070569 - AC006547.1 antisense 177 185 228 154 264 202 186 170 144 ENSG00000236541 chr11 58040708 58041660 - VN2R9P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236542 chr20 25669857 25670386 - MED28P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236543 chr9 135604345 135618952 + AL354761.1 protein_coding 102723971 0 0 0 0 0 0 0 0 0 ENSG00000236544 chr7 155421206 155457099 - AC008060.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236545 chr21 41870633 41872054 + AP001619.2 antisense 0 0 0 1 0 0 0 0 0 ENSG00000236546 chr1 39897745 39899098 + AL033527.2 antisense 105378668 3 0 4 0 0 7 0 0 0 ENSG00000236548 chr6 124909093 124963039 - RNF217-AS1 antisense 0 4 0 1 0 2 0 1 0 ENSG00000236549 chr2 47883455 47883909 + RPS27AP7 processed_pseudogene 6 1 0 2 1 3 4 1 4 ENSG00000236550 chr20 1676662 1676907 - AL109809.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236552 chr10 96750288 96750899 + RPL13AP5 processed_pseudogene 728658 84 42 95 218 82 185 168 91 111 ENSG00000236554 chr13 100062296 100063601 - ASNSP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236555 chr2 112346011 112346258 + AC115115.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000236556 chr10 59282147 59282835 + AC025038.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236559 chr20 31686216 31716825 + AL117381.1 antisense 1 1 3 1 0 6 0 1 6 ENSG00000236562 chr4 66094142 66094526 + AC116049.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236564 chr2 98694109 98695490 + YWHAQP5 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000236565 chr13 65787932 65788764 - HNRNPA3P5 processed_pseudogene 26 17 32 12 13 30 20 12 11 ENSG00000236567 chr9 5110913 5112849 + TCF3P1 processed_pseudogene 20 22 21 25 28 41 46 17 29 ENSG00000236569 chr7 27328607 27329534 - HNRNPA1P73 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236570 chr3 18538673 18539899 + RAD23BP1 processed_pseudogene 0 0 1 0 0 0 1 0 2 ENSG00000236571 chrX 53337783 53337973 - AC245102.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236572 chr2 37744333 37747046 + AC006369.2 lincRNA 2 2 1 1 2 0 1 0 0 ENSG00000236574 chr7 63843314 63843505 + AC092634.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236576 chrX 51856968 51858066 + AC241520.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236577 chr13 49488970 49489364 + SNRPGP14 processed_pseudogene 1 2 6 6 3 3 3 1 3 ENSG00000236580 chr7 114297114 114297429 - AC073626.2 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000236581 chr13 33180401 33281584 + STARD13-AS processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000236582 chr10 17577362 17578212 + PRPF38AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236583 chr8 99233048 99234459 - AP004290.1 processed_pseudogene 0 1 0 4 5 3 4 2 10 ENSG00000236590 chr2 131380916 131381590 - MTATP6P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236591 chr6 149027700 149032573 - AL357992.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236592 chr7 35169224 35169535 + S100A11P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236594 chr9 1164414 1164867 - RPS27AP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236595 chr2 130251568 130252559 + MED15P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236596 chr2 103494241 103495842 + AC092568.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236597 chr14 105865551 105865561 - IGHD7-27 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000236599 chrY 18178932 18179260 - ELOCP26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236601 chr1 358857 366052 + AL732372.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236603 chr6 30485940 30486590 + RANP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236604 chr9 76970322 76971028 + LYPLA2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236605 chr2 67324627 67325304 + AC023115.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236606 chr10 85708760 85709167 + AC022028.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236607 chr11 62169293 62169828 + EEF1DP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236608 chr13 60636888 60638097 - EIF4A1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236609 chr7 6615617 6624290 + ZNF853 protein_coding 54753 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2 1 11 10 2 10 13 6 6 ENSG00000236610 chr7 86216785 86217733 - SOCS5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236611 chr22 23326616 23328493 + LINC02556 lincRNA 102724679 0 0 0 0 0 0 1 2 0 ENSG00000236612 chr21 30537278 30537381 - KRTAP19-11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236615 chrY 21405770 21405995 + AC010086.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236616 chr11 130546799 130547429 - BAK1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236617 chr12 132887842 132888583 + AC127070.1 antisense 101928530 0 1 2 20 3 5 11 12 3 ENSG00000236618 chr17 1516931 1518096 + PITPNA-AS1 antisense 100306951 5 9 13 24 6 20 28 10 9 ENSG00000236620 chrY 23715922 23726808 - XKRYP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236626 chr10 36432882 36434484 - MTND5P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236627 chr6 165754189 165775780 + AL590302.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236634 chr2 204470076 204473837 - AC016903.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236635 chr6 76522451 76593623 - LINC02540 lincRNA 105377860 0 0 0 0 0 0 0 0 0 ENSG00000236636 chr1 227264776 227265207 - AL627308.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000236637 chr9 21186694 21187671 - IFNA4 protein_coding 3441 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005132, GO:0005125, protein binding, type I interferon receptor binding, cytokine activity, GO:0060337, GO:0051607, GO:0043330, GO:0042100, GO:0033141, GO:0030183, GO:0019221, GO:0009615, GO:0007596, GO:0006959, GO:0002323, GO:0002286, GO:0002250, type I interferon signaling pathway, defense response to virus, response to exogenous dsRNA, B cell proliferation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell differentiation, cytokine-mediated signaling pathway, response to virus, blood coagulation, humoral immune response, natural killer cell activation involved in immune response, T cell activation involved in immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000236638 chr7 63263065 63263456 + AC006455.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236641 chr22 25212742 25213685 + Z99916.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236643 chr9 124770123 124772927 + AL354928.1 antisense 1 0 4 0 9 5 4 3 12 ENSG00000236646 chr1 62038842 62039111 + LAMTOR5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236647 chrY 23549809 23551385 + AC009947.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236648 chr1 17717687 17749978 + AL136529.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236651 chr2 172103006 172109982 + DLX2-DT lincRNA 104326193 0 0 0 0 0 0 0 0 0 ENSG00000236653 chr2 198299363 198375116 - LINC01923 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236654 chr7 23480753 23480959 + AC079780.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000236655 chr2 126311466 126311927 - AC023347.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236656 chr1 158474454 158494886 - AL365440.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236658 chr9 130933851 130945520 + AL161733.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236662 chr10 100980507 100985614 - AL133215.1 antisense 2 0 0 0 0 0 0 0 0 ENSG00000236663 chr21 43140523 43141092 - FRGCA antisense 106481742 0 0 0 0 0 0 0 0 0 ENSG00000236664 chr2 177953111 178011989 - AC011998.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000236665 chr2 1158310 1160424 - AC114808.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236666 chr22 15699361 15703403 - POTEH-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236667 chr2 180938830 180939298 - AC104076.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236668 chr9 124006277 124009396 - AC006450.3 antisense 100505588 0 0 0 0 0 0 0 0 0 ENSG00000236670 chr22 20482815 20484105 - KRT18P5 processed_pseudogene 2 3 0 5 4 0 2 3 3 ENSG00000236671 chr10 52230742 52314507 - PRKG1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236673 chr6 131901963 131920565 + AL117378.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236674 chr1 63359823 63361179 - AL049636.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236675 chr1 155230975 155234325 + MTX1P1 unprocessed_pseudogene 35 16 74 37 14 4 16 7 17 ENSG00000236676 chr1 81585941 81625713 - AC117944.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236677 chr21 36060432 36064408 + AP000688.4 antisense 2 2 5 10 4 9 2 3 1 ENSG00000236678 chr13 74552503 74565445 + LINC00347 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236679 chr1 347982 348366 - RPL23AP24 processed_pseudogene 2 3 6 4 5 0 8 1 0 ENSG00000236680 chr9 19026892 19028129 + AL356000.1 processed_pseudogene 0 1 0 1 0 0 0 0 0 ENSG00000236681 chr2 204306842 204307364 + DSTNP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236682 chr2 127389130 127400580 + AC068282.1 lincRNA 100506922 37 24 26 22 24 34 20 28 1 ENSG00000236683 chrX 26748029 26749090 + HMGA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236686 chr3 172425850 172427089 - BZW1P1 processed_pseudogene 0 0 0 0 2 0 1 0 0 ENSG00000236687 chr9 131816192 131820988 + AL160271.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236689 chr1 93926615 93927569 - MTCO2P21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236690 chrY 7690511 7692678 + AC007274.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236691 chr3 103240987 103241230 + NDUFA4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236692 chr7 57187892 57189437 + AC099654.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236695 chr2 194187379 194188309 + HNRNPA1P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236698 chr1 16685621 16686055 - EIF1AXP1 processed_pseudogene 24 29 56 30 17 35 5 12 12 ENSG00000236699 chr4 105552620 105708093 + ARHGEF38 protein_coding 54848 GO:0005737, cytoplasm, GO:0005085, guanyl-nucleotide exchange factor activity, 76 57 68 58 47 88 54 54 41 ENSG00000236700 chr6 134437716 134504581 + LINC01010 lincRNA 0 1 0 0 0 2 0 0 0 ENSG00000236701 chr9 73648828 73649839 + AL512594.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236703 chr6 135195083 135195995 - MYB-AS1 antisense 1 0 3 0 0 4 1 0 0 ENSG00000236704 chr13 20921664 20923233 - CNOT4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236708 chr7 3264032 3302452 - AC073316.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236709 chr9 87553454 87554459 + DAPK1-IT1 sense_intronic 100506897 0 1 0 0 3 0 0 1 0 ENSG00000236710 chr11 3084393 3085443 - AC108448.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236711 chr13 36849366 36850046 - SMAD9-IT1 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000236712 chr7 7293508 7293880 + AC079448.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236713 chr1 150780272 150780644 + AL356292.1 processed_pseudogene 1 1 1 3 4 0 0 0 0 ENSG00000236714 chr5 142745600 142760998 + LINC01844 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000236716 chr10 28743745 28744663 + AL355376.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236717 chr9 92150382 92157445 - AL354751.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236718 chrY 10022489 10034187 - RBMY2QP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236719 chr1 180552749 180566520 + OVAAL lincRNA 148756 GO:0005686, U2 snRNP, GO:0045131, pre-mRNA branch point binding, GO:0000348, mRNA branch site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000236720 chr1 177700524 177710330 + LINC01741 lincRNA 101928778 0 0 0 0 0 0 0 0 0 ENSG00000236722 chr3 58511310 58511676 + AC116036.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236723 chr1 53209783 53213775 - AL606760.2 antisense 60 74 68 16 33 24 27 36 45 ENSG00000236724 chr9 3875584 3878809 + AL137071.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236731 chr1 157629939 157630728 - AL135929.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236732 chr3 32151083 32151895 - AC094019.1 unprocessed_pseudogene 1 0 1 1 0 0 0 0 0 ENSG00000236733 chr9 68822403 68843275 - AL354794.1 antisense 8 4 9 0 3 0 7 2 10 ENSG00000236735 chrX 68600099 68600473 + RPL31P63 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000236736 chr3 46310591 46311922 - UQCRC2P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000236737 chrX 49529869 49529985 + GAGE12B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000236739 chr9 22747700 22748234 + CLIC4P1 processed_pseudogene 3 3 2 1 1 0 1 0 0 ENSG00000236740 chr6 53930022 53997667 + AL033384.1 lincRNA 101927189 0 0 0 0 0 0 0 0 0 ENSG00000236741 chr1 171762074 171762524 + Z98751.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236744 chr10 55247755 55597233 - AC016822.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000236745 chr9 96954820 96955461 + YRDCP2 processed_pseudogene 1 0 0 2 3 0 6 1 0 ENSG00000236747 chrX 39367285 39391774 - LINC01282 lincRNA 101927449 0 0 0 0 0 0 0 0 0 ENSG00000236748 chr7 8938787 8939369 + AC009500.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236750 chr2 95641634 95641980 - AC009237.9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236751 chrX 46325924 46327645 - LINC01186 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236753 chr7 131309469 131328222 - MKLN1-AS processed_transcript 100506881 54 55 51 23 16 24 30 30 38 ENSG00000236754 chr22 17580157 17589192 - AC007666.1 antisense 0 1 0 3 10 14 12 9 0 ENSG00000236756 chr10 73247360 73276984 + DNAJC9-AS1 antisense 414245 23 33 32 41 31 42 23 25 36 ENSG00000236758 chr13 29239379 29250554 - MTUS2-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236760 chr2 3131581 3145780 - AC019118.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236761 chr6 131708684 131711017 - CTAGE9 protein_coding 643854 GO:0070971, GO:0016021, GO:0005789, endoplasmic reticulum exit site, integral component of membrane, endoplasmic reticulum membrane, GO:0035459, GO:0009306, GO:0006888, vesicle cargo loading, protein secretion, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 0 0 0 0 0 1 0 ENSG00000236762 chr10 121133090 121133723 - RPL19P16 processed_pseudogene 0 0 0 2 1 0 0 0 0 ENSG00000236763 chr9 101356466 101356844 - TRMT112P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236764 chr4 96902801 96903050 + COX7A2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236768 chr3 48120669 48121215 - AC124916.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236769 chr10 43900891 43912331 - AL139237.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236770 chr17 74549399 74552737 - AC079325.1 unprocessed_pseudogene 6 1 2 3 0 0 8 2 0 ENSG00000236772 chr20 32449755 32453607 + AL034550.1 antisense 68 63 103 46 52 43 57 36 49 ENSG00000236773 chr1 224175476 224175706 - AC092809.3 processed_pseudogene 2 4 2 0 1 1 5 2 3 ENSG00000236775 chr1 247015068 247017291 + AL512637.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236776 chr1 56538452 56538911 + RPL21P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236777 chr10 22163092 22164306 + AL157831.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236778 chr13 51452367 51552364 + INTS6-AS1 antisense 61 54 79 49 75 83 85 51 65 ENSG00000236779 chr1 204528845 204529692 - AL512306.1 processed_pseudogene 1 6 0 3 2 2 0 0 1 ENSG00000236780 chr2 67123357 67215319 - LINC01829 lincRNA 644838 0 0 0 0 0 0 0 0 0 ENSG00000236782 chr1 26169516 26171831 - AL391650.1 protein_coding 7 6 5 20 16 19 13 7 9 ENSG00000236783 chr9 107963703 107964045 - RPS15AP27 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000236785 chr2 102411243 102412108 + SDR42E1P5 processed_pseudogene 0 0 0 0 3 0 0 0 3 ENSG00000236786 chrY 9548108 9550681 + TSPY15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236790 chr2 8007771 8383621 - LINC00299 lincRNA 339789 11 7 36 5 13 11 15 10 13 ENSG00000236791 chr5 180692832 180693763 - OR2AI1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236792 chr1 192247505 192247947 + AL513175.2 processed_pseudogene 1 2 0 0 1 0 6 0 0 ENSG00000236794 chr22 23179918 23180172 - BCRP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236795 chr7 147080934 147097609 - AC006004.1 antisense 101928700 0 0 0 0 0 0 0 0 0 ENSG00000236796 chr9 32836575 32869595 - AL157884.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236797 chr10 75382393 75382844 - SPA17P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236799 chr10 114994657 114996593 + AL355340.1 lincRNA 102724589 0 0 0 0 0 0 0 0 0 ENSG00000236800 chr10 48664199 48672424 - AC068898.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236801 chr9 70217195 70217668 + RPL24P8 processed_pseudogene 15 9 9 9 11 60 6 9 19 ENSG00000236803 chr13 23267506 23269150 + SDAD1P4 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000236804 chr1 119126539 119127291 - RPS3AP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236806 chr1 147223554 147224348 + RPL7AP15 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000236807 chr19 44765148 44765464 + AC092066.1 processed_pseudogene 0 1 0 0 0 0 0 3 0 ENSG00000236809 chr1 211417025 211417934 + SNX25P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236810 chr1 23760382 23778287 - ELOA-AS1 antisense 100506963 12 22 20 24 20 20 20 13 27 ENSG00000236811 chr20 13392677 13393674 + GAPDHP2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000236813 chrX 63766875 63767400 + BTF3P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236814 chr8 56050038 56051207 - AC046176.1 processed_pseudogene 16 9 16 9 18 23 18 9 8 ENSG00000236816 chr9 42852675 42894751 + ANKRD20A7P unprocessed_pseudogene 0 3 2 4 4 0 1 0 0 ENSG00000236817 chr1 247565639 247640854 - AL606804.1 antisense 1 1 3 0 2 2 2 0 0 ENSG00000236818 chr10 99013103 99013952 - ARL5AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236819 chr17 21075556 21090615 + LINC01563 lincRNA 101060544 0 0 0 0 0 0 0 0 0 ENSG00000236822 chr6 142088233 142089219 + NMBR-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236823 chr6 159899186 159902510 + AL035691.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236824 chr2 47335315 47335514 + BCYRN1 scRNA This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2008]. 618 0 0 0 0 0 0 0 0 0 ENSG00000236825 chr9 62606797 62607748 - RAB28P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236827 chr8 11247626 11267865 - LINC00529 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236828 chrX 32754940 32756400 + DMD-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236829 chr16 382097 392960 + Z97634.1 transcribed_processed_pseudogene 100134368 5 0 2 11 7 19 8 16 0 ENSG00000236830 chr21 36131767 36175815 - CBR3-AS1 processed_transcript 100506428 7 6 7 15 9 3 14 9 0 ENSG00000236831 chr22 15489990 15492564 + YME1L1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236832 chr2 173477996 173478400 - AC073465.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236833 chr3 197660565 197665757 - AC024560.1 lincRNA 0 0 0 0 0 0 0 2 3 ENSG00000236834 chr13 19345049 19346749 + LINC00421 lincRNA 100287114 0 0 0 0 0 0 0 0 0 ENSG00000236836 chrX 24650073 24658237 + PCYT1B-AS1 antisense 100874088 0 0 0 0 0 0 0 0 0 ENSG00000236837 chr2 52494688 52500752 - AC139712.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236838 chr17 2213697 2214414 + AC090617.2 antisense 0 1 1 0 0 0 0 0 0 ENSG00000236839 chr7 69187833 69189318 - AC069280.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236841 chr2 162159762 162173223 + AC007750.1 antisense 0 0 0 4 0 1 1 0 0 ENSG00000236842 chr10 75430571 75431588 - AC010997.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236844 chr3 195554610 195555083 + AC069213.3 processed_pseudogene 0 0 2 1 0 5 0 0 0 ENSG00000236846 chr1 223144049 223144954 + AL359979.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236847 chr2 97035461 97037549 - AC018892.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236848 chr7 103152007 103152325 - RPL23AP95 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000236849 chr9 72871728 72874109 - LINC01474 lincRNA 101927258 0 0 0 0 0 0 0 0 0 ENSG00000236852 chrX 62779250 62780326 + BX322784.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000236853 chr7 143488462 143489402 - OR2R1P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236854 chr2 32927127 32928405 + AL121656.1 lincRNA 285045 0 0 0 0 0 0 0 0 0 ENSG00000236856 chr2 388412 416885 + AC105393.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236857 chr9 18717974 18718526 - RAP1BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236858 chr22 27048144 27060518 - AL008638.2 lincRNA 284898 0 0 0 0 0 0 0 0 0 ENSG00000236859 chr2 121649650 121728481 + NIFK-AS1 antisense 254128 23 14 20 34 33 39 27 20 24 ENSG00000236860 chr13 102263046 102263202 - RPL39P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236861 chr7 93969442 94011113 + AC006378.1 antisense 4 1 4 2 1 0 2 1 10 ENSG00000236862 chr9 72655832 72656192 - RPS20P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236863 chr1 235295865 235296335 + RPL23AP23 processed_pseudogene 3 5 1 3 2 0 3 1 0 ENSG00000236864 chr3 187932764 187946221 - AC068295.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236866 chr1 117596832 117605770 - AL157902.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236867 chr22 49817248 49817712 + Z98885.1 processed_pseudogene 6 1 6 0 0 1 2 2 6 ENSG00000236869 chr3 44557357 44685653 - ZKSCAN7-AS1 antisense 112840933 0 0 0 0 0 0 0 0 0 ENSG00000236870 chrX 83559896 83560312 - AL121882.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236871 chrX 1396427 1399402 + LINC00106 lincRNA 751580 0 0 0 0 0 0 0 0 0 ENSG00000236872 chr1 45415020 45415344 + PPIAP36 processed_pseudogene 1 3 0 0 0 0 0 1 0 ENSG00000236874 chr20 48383323 48384895 - AL137078.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236875 chr9 12134 13783 + DDX11L5 unprocessed_pseudogene 0 3 1 0 0 0 2 0 0 ENSG00000236876 chr1 42500205 42500339 - TMSB4XP1 processed_pseudogene 2 0 0 0 1 0 0 1 1 ENSG00000236877 chr2 108226015 108226331 - SETD6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236878 chr2 120211054 120211715 + MTATP6P26 processed_pseudogene 2 2 0 2 1 2 0 3 0 ENSG00000236880 chrX 124688504 124688838 - Z85995.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236882 chr5 95852232 95860133 + LINC01554 lincRNA 202299 1 0 0 0 0 3 0 2 0 ENSG00000236883 chr21 41739373 41741308 + AP001615.1 antisense 1 0 6 0 0 3 4 0 11 ENSG00000236885 chr2 151117955 151186209 - AC018731.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236886 chr2 216694464 216994079 + AC007563.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000236887 chr1 113198825 113199258 + AL357055.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236888 chr1 57605847 57606206 - RPS20P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236889 chr1 206175060 206177246 - AC244035.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236890 chr22 18081466 18081675 - AC016027.5 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000236892 chr10 3532094 3537031 - AL357833.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236893 chr3 177297161 177298386 - ASS1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236894 chr10 26577676 26622338 - AL160287.1 transcribed_unprocessed_pseudogene 7 6 3 5 3 4 0 4 3 ENSG00000236896 chr9 97986551 97987656 - AL354726.1 antisense 0 0 0 0 2 0 1 0 0 ENSG00000236897 chr11 5106062 5107530 - AC113331.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236900 chr10 74344550 74344805 - TIMM9P1 processed_pseudogene 0 0 0 0 3 0 0 1 0 ENSG00000236901 chr9 123109494 123115477 - MIR600HG sense_intronic 81571 GO:0035195, gene silencing by miRNA, 6 12 7 18 20 27 16 6 17 ENSG00000236905 chr1 212824027 212824505 + AC104333.3 processed_pseudogene 3 1 3 2 2 5 3 0 0 ENSG00000236907 chr7 57817601 57818012 - AC023141.9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236908 chr12 3318718 3325343 + AC005865.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236909 chr6 29071824 29072599 - OR2P1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236911 chr1 207551925 207606555 - AL137789.1 antisense 147 180 190 66 77 103 136 66 114 ENSG00000236913 chr2 42469817 42470266 + AC025750.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236914 chr15 38069481 38072959 - LINC01852 lincRNA 107984773 2 0 0 0 0 2 1 0 1 ENSG00000236915 chr1 86571181 86696311 - AL356270.1 antisense 0 3 3 4 0 0 0 0 0 ENSG00000236917 chr2 153761450 153762646 - DNAJA1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236919 chr11 50246554 50247761 - AC109635.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236920 chr6 98210020 98214683 - AL590727.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236921 chr9 22203990 22214672 - AL157937.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236922 chr4 117406166 117691188 + LINC01378 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236924 chr9 6645956 6670635 + AL162411.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236928 chr7 66434634 66435154 - AC008267.4 processed_pseudogene 0 0 1 1 0 3 0 0 0 ENSG00000236929 chrX 15117437 15117768 - AC112498.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236930 chr3 45883640 45884113 - AC099782.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236932 chr19 43035869 43041248 - CEACAMP8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236935 chr11 64325050 64329504 - AP003774.4 antisense 6 19 18 3 25 7 9 14 4 ENSG00000236936 chr1 21266082 21267251 + AL031005.1 antisense 22 16 36 2 11 14 18 9 21 ENSG00000236937 chr10 102845595 102845950 + PTGES3P4 processed_pseudogene 1 0 0 1 0 1 0 0 1 ENSG00000236938 chr7 94071759 94077157 - AC003092.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236939 chr8 103132963 103141475 - BAALC-AS2 antisense 157556 0 0 0 0 0 0 0 0 0 ENSG00000236940 chr1 151757659 151758442 + AL589765.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236941 chr4 164948079 164949438 + AC106872.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236942 chr1 205625483 205626153 + AC096533.1 processed_pseudogene 5 3 1 2 0 0 4 2 0 ENSG00000236944 chr10 50962993 50963358 - CCDC58P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236946 chr12 68035767 68036853 + HNRNPA1P70 processed_pseudogene 0 2 0 8 2 5 5 0 1 ENSG00000236947 chr1 156446412 156456577 - AL139412.1 lincRNA 0 3 0 6 5 14 5 2 2 ENSG00000236948 chr1 5561709 5668295 - AL365255.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000236950 chr1 208972454 208975307 + LINC01774 lincRNA 105372894 0 0 0 0 0 0 0 0 0 ENSG00000236951 chrY 22100814 22147484 - AC007359.1 lincRNA 102725532 0 0 0 0 0 0 0 0 0 ENSG00000236953 chr13 21376977 21377874 - ZDHHC20-IT1 sense_intronic 1 9 5 7 12 4 4 0 4 ENSG00000236956 chr2 131189834 131198007 - NF1P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236957 chr1 157925065 157949071 + AL139010.1 transcribed_unprocessed_pseudogene 105371458 0 0 0 0 0 0 0 0 0 ENSG00000236958 chr10 54864674 54869122 - AC051618.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000236959 chr4 69791872 69813888 - SULT1D1P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236960 chr10 19491072 19491299 - AL354695.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236961 chr6 43722786 43737834 - AL136131.2 lincRNA 0 0 0 0 0 0 1 2 2 ENSG00000236963 chr1 20360579 20431234 - LINC01141 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000236965 chr11 5800364 5801297 + OR52N3P unprocessed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000236966 chr9 40131747 40132218 + AL773545.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236968 chr10 3223816 3227407 + AL451164.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236969 chr2 91775944 91781169 + GGT8P unprocessed_pseudogene 0 0 2 1 0 0 1 3 0 ENSG00000236972 chr13 73100575 73100985 - FABP5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236973 chr1 51707138 51708137 - GAPDHP51 processed_pseudogene 0 0 2 0 1 0 0 3 0 ENSG00000236975 chr1 229092815 229094905 - AL137793.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236976 chr7 64141538 64142401 - AC091685.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236977 chr2 197250858 197302519 - ANKRD44-IT1 sense_intronic 101927547 21 30 38 19 23 23 25 16 12 ENSG00000236978 chr7 70837738 70838013 + AC073873.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236980 chr3 49177632 49191858 - C3orf84 protein_coding 646498 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 1 0 2 0 0 0 0 0 0 ENSG00000236981 chr11 124023013 124023948 + OR10G9 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219870 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000236982 chrX 64726748 64727048 - BLOC1S2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236985 chr20 16857962 16864148 - AL121892.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236986 chr9 131132852 131167505 - AL157938.2 antisense 58 54 57 27 17 14 40 28 25 ENSG00000236987 chr11 3276045 3276390 + NDUFA5P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236988 chrX 100149783 100151340 - AL359641.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236989 chr2 16085222 16105841 - AC130710.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000236990 chr10 4051726 4089013 + AC025822.2 lincRNA 101927964 0 0 0 1 0 0 0 0 0 ENSG00000236991 chr10 125725634 125752110 - EDRF1-AS1 antisense 56 43 40 71 62 50 51 52 35 ENSG00000236992 chr20 19823443 19823943 - RPL12P12 processed_pseudogene 1 1 3 0 0 0 0 0 0 ENSG00000236993 chr10 55667341 55668350 - GAPDHP21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236994 chr1 226318015 226318693 - YBX1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000236996 chr6 53998890 54007152 + MLIP-IT1 sense_intronic 100874282 0 0 0 1 0 0 0 0 0 ENSG00000236998 chr9 68788307 68789670 - AL354794.2 processed_pseudogene 0 2 1 2 3 0 1 4 8 ENSG00000236999 chr3 10566255 10570375 - ATP2B2-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000237000 chr20 56700837 56701514 - PTMAP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237001 chr13 26606544 26641364 - WASF3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237002 chr10 36438616 36442392 + AL590730.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237003 chr1 93190740 93191060 - AC126124.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000237004 chr7 32728569 32753744 + ZNRF2P1 transcribed_processed_pseudogene 1 1 9 0 3 4 0 0 6 ENSG00000237005 chr20 10334419 10334698 + HIGD1AP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237007 chr2 31822591 31823436 - KRT18P52 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000237008 chr1 153379821 153380799 - LAPTM4BP1 processed_pseudogene 2 2 0 0 0 0 0 0 0 ENSG00000237009 chr9 3898642 3901248 + GLIS3-AS1 antisense 84850 2 1 0 0 0 0 0 0 0 ENSG00000237011 chr1 193684246 193688429 - AL357793.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237013 chr2 67796054 67825562 - LINC01812 lincRNA 101927701 0 0 0 0 0 0 0 0 0 ENSG00000237014 chrX 73237647 73238709 - AC004074.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237015 chr22 29260889 29262037 + AL031186.1 antisense 2 0 0 4 2 2 3 0 0 ENSG00000237016 chr2 173575110 173576341 - AC013410.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237017 chr19 54119511 54125343 - AC245052.4 antisense 0 0 0 2 2 0 0 2 9 ENSG00000237019 chrX 22698457 22768966 + AC004470.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237020 chr14 105891191 105891207 - IGHD1-20 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000237023 chrY 21661926 21674008 + USP9YP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237024 chr2 60852260 60852743 + RPL21P33 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000237025 chrX 123878590 123879296 - AL121601.2 processed_pseudogene 2 1 3 1 3 0 0 1 0 ENSG00000237026 chr7 65235790 65236723 - AC104073.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237027 chr6 89560875 89567044 - AL159174.1 antisense 1 3 5 0 0 0 5 4 0 ENSG00000237031 chr2 80572681 80618777 - AC008067.1 antisense 0 0 0 1 0 0 0 0 0 ENSG00000237032 chr10 14723171 14724055 - RPSAP7 processed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000237033 chr1 70660657 70661265 - CASP3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237035 chr2 198187802 198191521 - AC020719.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237036 chr10 31206278 31320447 - ZEB1-AS1 antisense This locus produces long non-coding RNA that is transcribed from a shared bi-directional promoter with zinc finger E-box binding homeobox 1 (ZEB1). This transcript binds lysine methyltransferase 2A and promotes histone modifications that are thought to promote expression of ZEB1. Expression of this gene is correlated with tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]. 220930 135 97 176 177 128 304 136 129 175 ENSG00000237037 chr22 42090931 42137742 + NDUFA6-DT processed_transcript 4 0 0 4 0 1 2 1 1 ENSG00000237038 chr8 7971661 7973253 - USP17L8 protein_coding 392188 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000237039 chr2 231256097 231256306 + AC018738.1 processed_pseudogene 0 1 0 4 3 1 0 1 0 ENSG00000237040 chrX 155875636 155875885 + DPH3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237041 chr2 206040432 206040845 + AC007679.2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000237042 chr6 29812565 29812696 - MICG unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237048 chrY 7804924 7810683 + TTTY12 lincRNA 83867 0 0 0 0 0 0 0 0 0 ENSG00000237049 chr1 168210616 168210969 + RPL34P1 processed_pseudogene 0 0 0 1 1 4 0 0 5 ENSG00000237053 chr2 176804987 176806337 - FUCA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237054 chr14 22918947 22926900 + PRMT5-AS1 antisense 415 383 512 255 248 313 258 194 276 ENSG00000237055 chr2 94899566 94900661 - MTCO1P48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237057 chr17 15806241 15817742 - LINC02087 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237058 chr1 2632568 2636620 + AL831784.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000237061 chr8 73083787 73085879 - AC100823.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000237062 chr9 106615078 106615806 - AL512649.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237063 chr20 36086252 36088192 - AL035420.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237064 chr7 109959218 109960184 - EIF3IP1 processed_pseudogene 442720 0 0 0 0 0 0 0 0 0 ENSG00000237065 chr7 29212302 29213214 + NANOGP4 transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000237068 chr20 45490818 45491671 - RPL5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237070 chr7 15667947 15681980 + AC005550.2 antisense 105375166 0 0 0 0 0 0 0 0 0 ENSG00000237072 chr9 81488308 81488837 + AL161727.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237073 chr9 113570190 113590019 - AL162727.2 antisense 3 1 18 0 1 10 3 3 9 ENSG00000237074 chr1 207240122 207309292 + AL596218.1 lincRNA 2 0 0 4 3 0 0 0 0 ENSG00000237076 chr1 83790280 83801465 + AL035706.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237077 chr2 77788382 77793087 + AC105399.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237080 chr6 31877808 31884204 + EHMT2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237082 chr13 100623875 100624429 - COX5BP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237083 chr9 17108304 17108604 - AL162725.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237085 chr2 91859384 91859481 + AC127391.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237087 chr2 232420661 232421461 - AC068134.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237088 chr9 20532552 20533339 + AL163193.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000237089 chrX 75537547 75538702 - PCNPP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237090 chr1 42891094 42892430 - AL512353.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237092 chr13 53146539 53151808 - LINC01065 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237094 chr1 365389 522928 - AL732372.2 transcribed_unprocessed_pseudogene 212 502 406 173 601 381 266 388 337 ENSG00000237099 chr13 82823131 82824136 + GYG1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237101 chr1 224219613 224228043 + AC092809.4 antisense 101927164 1 2 7 4 6 6 1 7 5 ENSG00000237106 chrX 77727867 77728080 + FABP5P15 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000237107 chr6 42499710 42500022 + AL591473.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237109 chr13 78761175 78761651 + RPL21P111 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237110 chr6 132538290 132539336 + TAAR9 protein_coding TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005]. 134860 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004930, GO:0001594, protein binding, G protein-coupled receptor activity, trace-amine receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000237111 chr14 105863416 105863465 - IGHJ3P IG_J_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237115 chr6 131825981 131828413 - AL139805.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237118 chr19 40818414 40826772 - CYP2F2P transcribed_processed_pseudogene 46 34 33 20 38 38 31 28 28 ENSG00000237119 chr20 63038011 63053863 + LINC01056 lincRNA 100144597 0 0 0 0 0 0 0 0 0 ENSG00000237121 chr20 58740532 58783821 - PIEZO1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237124 chr9 109300186 109301172 + MTND2P11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237125 chr4 173527270 173659696 + HAND2-AS1 antisense 79804 0 0 0 0 0 0 0 0 0 ENSG00000237126 chr2 232580948 232611971 - AC073254.1 antisense 55 53 71 48 47 68 60 31 40 ENSG00000237127 chr22 22834865 22835117 + AC245028.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237128 chr10 28433008 28495813 - AL358234.1 lincRNA 105376468 0 0 0 0 0 0 0 0 0 ENSG00000237129 chr22 36175857 36176526 + MTCYBP34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237130 chr1 50846468 50846837 + MRPS6P2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000237131 chr1 168215405 168215652 + AL021397.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237133 chr2 33555047 33563547 - AC020594.1 antisense 0 1 0 0 0 0 1 1 12 ENSG00000237135 chr10 30919012 30921235 - DDX10P1 processed_pseudogene 20 17 11 10 14 17 9 6 6 ENSG00000237136 chr4 145680115 145771032 + C4orf51 protein_coding 646603 0 0 0 0 0 0 0 0 0 ENSG00000237137 chr9 14531916 14532042 - AL159169.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237138 chr21 32020966 32021782 - HUNK-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237139 chr10 73537803 73538391 + RPS26P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237140 chr16 26062750 26063097 - HSPE1P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237141 chr10 67833763 67834081 + DNAJC19P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237148 chr13 81272891 81273170 + HIGD1AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237149 chr10 75401519 75408982 + ZNF503-AS2 antisense 100131213 0 0 0 0 0 3 0 0 0 ENSG00000237152 chr13 50807856 50849905 + DLEU7-AS1 antisense 0 0 0 0 3 0 0 1 0 ENSG00000237153 chr9 16917511 17114122 + AL162725.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237154 chr6 27407697 27407996 + MCFD2P1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000237158 chr9 6568844 6569360 + AL353718.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237159 chr9 34568015 34582829 + CNTFR-AS1 antisense 415056 0 2 0 0 0 0 0 0 0 ENSG00000237160 chr7 95348718 95348910 - AC004022.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237161 chr15 21293653 21295201 - AC068446.1 processed_pseudogene 0 0 0 1 0 0 0 0 1 ENSG00000237162 chr2 62939916 62940282 + AC007098.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237163 chr1 62905180 62905482 + AC099794.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237164 chr13 19411231 19416188 + SLC25A15P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237166 chr2 200712305 200735177 - LINC01792 lincRNA 0 0 0 51 29 40 11 17 9 ENSG00000237167 chr3 197458405 197467105 + AC128709.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237169 chr10 97309138 97309958 - RPL12P27 processed_pseudogene 47 43 43 8 21 40 21 30 33 ENSG00000237170 chr4 4507078 4507777 + RPS7P15 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000237171 chrX 26223903 26224658 + AC005297.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237172 chr16 67148105 67151214 - B3GNT9 protein_coding 84752 GO:0016021, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0008532, GO:0008376, GO:0008375, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity, acetylgalactosaminyltransferase activity, acetylglucosaminyltransferase activity, GO:0030311, GO:0006486, poly-N-acetyllactosamine biosynthetic process, protein glycosylation, 82 70 92 39 66 71 52 87 61 ENSG00000237173 chr1 54524824 54524931 + AC099796.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237174 chr6 75357214 75399300 + AL445465.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237175 chr13 22099163 22099544 - NME1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237176 chr12 59812102 59812576 + AC079905.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237178 chr2 177344443 177344836 + AC019080.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237179 chr2 66697125 66703227 - LINC01797 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237180 chr1 48089368 48089634 + CYP46A4P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237181 chr7 603185 608482 + AC147651.3 antisense 1 5 71 12 12 193 10 9 117 ENSG00000237182 chrX 71736454 71736703 - BX276092.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237183 chr17 41280604 41280810 + KRTAP9-10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237185 chr16 31648307 31649222 + VN1R66P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237186 chr3 57530345 57530967 - AC092418.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237187 chr5 93409359 93585648 - NR2F1-AS1 antisense 441094 0 0 0 0 0 0 0 0 0 ENSG00000237188 chr1 147173186 147252659 + AC242426.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237189 chr1 157287703 157288053 - AL138900.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237190 chr5 134402087 134411898 - CDKN2AIPNL protein_coding 91368 GO:0005730, GO:0005654, nucleolus, nucleoplasm, GO:0005515, protein binding, 10 19 9 24 24 55 44 16 50 ENSG00000237193 chr1 227482253 227482454 + AL451054.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237194 chr2 209808804 209809580 + SNAI1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237195 chrY 6158802 6159265 + DLGAP5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237197 chr14 105909907 105909923 - IGHD1-7 IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000237200 chr1 22517474 22519708 + ZBTB40-IT1 sense_intronic 0 1 2 0 0 1 0 0 2 ENSG00000237202 chr21 13120244 13120807 + AJ239321.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237205 chr10 88618223 88618934 - RPL7P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237206 chrX 43278125 43279658 - IMPDH1P4 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000237207 chr9 41974362 41975768 + RBM17P3 processed_pseudogene 0 0 0 0 0 1 0 1 0 ENSG00000237208 chrX 126109762 126115562 + AL445072.1 lincRNA 101928495 0 0 0 0 0 0 0 0 0 ENSG00000237210 chr7 55244247 55245681 + AC073324.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237211 chrX 84755136 84756003 + SETP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237212 chr9 96095211 96101912 + AL449403.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237213 chr1 193756815 193757267 - RPL23AP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237214 chr22 41064052 41064633 + AL080243.2 processed_pseudogene 525 633 843 400 511 769 330 565 572 ENSG00000237215 chr8 12290071 12296180 - DEFB131D unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237217 chr2 64450096 64450524 + AC008074.1 processed_pseudogene 14 19 5 16 14 14 15 6 7 ENSG00000237220 chr2 150566134 150568080 + AC104777.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237221 chrX 18688643 18691604 - PPEF1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237222 chr3 194708421 194782168 + LINC01968 lincRNA 100507391 0 0 0 0 0 0 0 0 0 ENSG00000237223 chr2 108322238 108353799 + SULT1C2P1 transcribed_unprocessed_pseudogene 151234 0 0 0 0 0 0 0 0 0 ENSG00000237224 chr10 129693722 129702117 - AL157832.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237225 chrX 131562729 131563846 + OR13K1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237226 chr11 3549745 3550519 - RPS3AP39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237227 chr1 62208136 62208442 - AL162739.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237230 chr17 41071946 41072341 + KRTAP2-5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237232 chr21 42009194 42024924 + ZNF295-AS1 lincRNA 150142 13 15 20 24 26 30 22 39 19 ENSG00000237233 chr10 61452639 61481956 + TMEM26-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237234 chr6 112154765 112166476 + Z99289.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237235 chr14 22439007 22439015 + TRDD2 TR_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000237236 chr7 57822201 57822942 + AC023141.10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237238 chr9 63299453 63385117 - BMS1P10 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237242 chr10 109534655 109534990 + BTF3P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237243 chr7 137953348 137957966 + AC022173.1 lincRNA 100130880 0 0 0 0 0 0 0 0 0 ENSG00000237247 chr19 7030578 7033011 + MBD3L5 protein_coding 284428 0 0 0 0 0 0 0 0 0 ENSG00000237248 chr12 9240003 9257960 + LINC00987 lincRNA 100499405 5 6 17 16 5 8 18 5 10 ENSG00000237249 chr1 174892417 174893155 + Z99127.3 processed_pseudogene 2 1 0 0 0 0 0 0 2 ENSG00000237250 chr1 237862175 237928321 + AL359924.1 antisense 100130331 0 0 0 0 0 0 0 0 0 ENSG00000237251 chr7 39816549 39868140 + AC004987.3 unprocessed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000237252 chrX 76222637 76223097 + AC233981.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237254 chr7 142812586 142813399 - TRBV30 TR_V_gene 2 1 0 2 0 3 4 2 1 ENSG00000237256 chr20 11621051 11621477 + PGAM3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237257 chr9 78741720 78742744 - MTND2P8 unprocessed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000237259 chr20 18313765 18315111 - AL049646.2 antisense 3 3 0 3 3 1 2 0 2 ENSG00000237260 chr2 176338637 176339077 + PPIAP67 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237261 chr2 14530941 14531223 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000237262 chr2 136077892 136078513 + AC068492.1 lincRNA 0 0 0 1 0 0 0 0 2 ENSG00000237263 chr13 42068932 42071093 - MAPK6P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237264 chr8 81521682 81522232 - FTH1P11 processed_pseudogene 23 26 27 17 25 16 16 47 14 ENSG00000237265 chrX 71662998 71666767 - BX276092.7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237266 chr2 5810641 5812596 - LINC01810 lincRNA 105373400 0 0 0 0 0 0 0 0 0 ENSG00000237267 chr10 85193421 85197958 - LINC01519 lincRNA 101929624 0 0 0 2 0 0 0 0 0 ENSG00000237268 chr7 56421857 56448375 - AC092447.7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237269 chrY 21430697 21437245 - RBMY2TP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237271 chr2 204228137 204234985 - AC009498.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237272 chr11 4418060 4419011 + OR51R1P unitary_pseudogene 7 4 20 0 5 6 1 4 5 ENSG00000237273 chr19 12096424 12096915 + RSL24D1P8 processed_pseudogene 0 1 0 1 0 0 0 0 3 ENSG00000237274 chr9 6195934 6197248 + GTF3AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237275 chrX 52687363 52687633 - AL450023.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237276 chr1 16215909 16228027 - ANO7L1 transcribed_unprocessed_pseudogene 0 0 0 3 3 5 0 3 2 ENSG00000237278 chr1 113125321 113126883 - RLIMP2 processed_pseudogene 6 3 3 5 8 0 3 5 0 ENSG00000237279 chr1 52943536 52943930 - AC099677.3 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000237280 chr10 87113954 87115523 + AL136982.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000237281 chr2 218326889 218357966 - CATIP-AS2 antisense 1 0 0 0 5 0 0 2 0 ENSG00000237282 chr20 18379049 18381484 + LINC00851 antisense 440757 0 0 0 0 0 0 0 0 0 ENSG00000237283 chr1 188705623 188710880 - AL691515.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237285 chr6 32325219 32326178 + HNRNPA1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237286 chr7 2944035 2947091 + AC004906.1 antisense 12 6 31 21 15 27 31 7 24 ENSG00000237289 chr15 43593054 43604901 + CKMT1B protein_coding Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]. 1159 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0016301, GO:0005524, GO:0005515, GO:0004111, kinase activity, ATP binding, protein binding, creatine kinase activity, GO:0046314, GO:0016310, GO:0006600, phosphocreatine biosynthetic process, phosphorylation, creatine metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000237290 chr1 38209034 38214806 - LINC01343 lincRNA 339442 0 0 0 0 0 0 0 0 0 ENSG00000237292 chr1 181174484 181182208 + LINC01732 lincRNA 101928973 0 0 2 0 0 0 0 0 0 ENSG00000237293 chr2 75474453 75482579 + AC007099.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237294 chrX 66074835 66076347 - EIF4BP9 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000237296 chr16 22437008 22492220 + SMG1P1 transcribed_unprocessed_pseudogene 240 325 338 231 322 350 329 224 250 ENSG00000237297 chr10 44712 46884 + AL713922.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237298 chr2 178521183 178779963 + TTN-AS1 antisense This gene encodes a non-coding RNA transcribed from the opposite strand to the titin gene. [provided by RefSeq, Aug 2016]. 100506866 727 671 1000 493 614 759 595 466 609 ENSG00000237299 chr22 15541436 15578006 + AP000534.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237300 chrX 102796251 102797093 + MTCO1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237301 chr1 15586136 15603626 - AL121992.1 antisense 0 2 0 1 0 1 0 0 0 ENSG00000237302 chrY 23771232 23798150 + OFD1P11Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237303 chr12 11481383 11481656 + HIGD1AP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237306 chr9 92027498 92027824 + HSPE1P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237307 chrX 136976417 136985705 - SRRM1P3 processed_pseudogene 0 1 0 0 3 0 0 0 0 ENSG00000237308 chr2 95496022 95496531 - AC009237.10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237309 chr7 57186412 57187441 + MTND2P6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237310 chr7 66493706 66495474 + GS1-124K5.4 lincRNA 100289098 1 3 1 5 1 3 0 1 0 ENSG00000237311 chrX 65999751 66001071 + AL034397.2 antisense 3 2 7 1 0 0 2 1 3 ENSG00000237312 chr6 153304595 153308982 - AL590867.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237314 chr18 64072158 64072653 + RPL12P39 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237316 chr22 34711908 34724919 - Z82196.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237317 chr1 174367105 174368039 - AL022400.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000237319 chrX 109636834 109637063 + AL118496.2 processed_pseudogene 0 0 0 0 1 0 0 2 0 ENSG00000237320 chr2 34998273 35000160 - AC019064.1 lincRNA 105374461 0 0 0 0 0 0 0 0 0 ENSG00000237321 chr6 123823240 123829285 + AL354936.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000237322 chr2 228753324 228753786 + RPL7L1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237323 chr19 54652085 54652230 + AC245036.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237324 chr1 74341579 74378802 - AC093158.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237325 chr21 31452466 31453223 + AP000563.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237326 chr2 15801747 15810877 - AC113608.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237327 chr2 158127957 158133988 + UPP2-IT1 sense_intronic 0 0 0 0 0 2 0 0 0 ENSG00000237328 chr17 17759154 17770821 - RAI1-AS1 antisense 100861516 0 2 0 0 1 0 3 0 0 ENSG00000237329 chr1 31036734 31037240 + AL356320.2 processed_pseudogene 0 1 0 0 0 0 2 0 0 ENSG00000237330 chr1 1070966 1074307 - RNF223 protein_coding 401934 GO:0016021, integral component of membrane, GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000237331 chrX 123872626 123873932 - XIAP-AS1 antisense 2 0 2 0 0 0 0 0 0 ENSG00000237336 chr9 123491884 123493156 + AL445489.1 antisense 0 0 0 4 1 0 0 0 0 ENSG00000237337 chr1 50174306 50175868 - AL592182.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237338 chr21 46151614 46152647 + FTCD-AS1 antisense 100861507 0 0 0 0 0 0 0 0 0 ENSG00000237339 chr9 135574935 135587112 + LINC01502 lincRNA 100130954 0 0 0 0 0 0 0 0 0 ENSG00000237341 chrX 49198966 49202454 + SYP-AS1 antisense 0 2 1 2 2 0 1 0 0 ENSG00000237342 chr14 98844896 98845597 + AL132796.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237343 chr1 144418113 144419192 - AC246785.3 lincRNA 1 0 2 0 0 0 0 0 0 ENSG00000237345 chrX 48279423 48281792 + AC245047.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237346 chr6 14391231 14393288 - AL080313.2 lincRNA 0 0 0 0 0 0 4 0 0 ENSG00000237347 chr22 19055801 19056512 + AC004461.1 processed_pseudogene 3 0 5 4 2 3 7 2 0 ENSG00000237349 chr1 108986963 108987245 - BX679664.2 processed_pseudogene 0 0 0 5 2 7 0 2 1 ENSG00000237350 chr4 22727375 22727950 - CDC42P6 processed_pseudogene 59 44 84 14 30 15 22 33 27 ENSG00000237351 chrX 47156638 47158199 - AL513366.1 processed_pseudogene 5 3 3 2 3 2 5 6 3 ENSG00000237352 chr1 58933643 59240555 + LINC01358 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000237353 chr11 125833316 125840069 + PATE4 protein_coding 399968 GO:0005615, GO:0001669, extracellular space, acrosomal vesicle, GO:0030548, acetylcholine receptor regulator activity, GO:0099601, regulation of neurotransmitter receptor activity, 0 0 0 0 0 0 0 0 0 ENSG00000237354 chr11 5076130 5077066 - OR52S1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237356 chr14 53169054 53883740 + AL365295.1 processed_transcript 0 0 0 1 0 0 0 0 4 ENSG00000237357 chr9 42566679 42569353 - BX088651.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237358 chr22 16876552 16876902 - AC007064.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237359 chr9 3647335 3648338 + AL354977.2 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000237360 chr9 108097432 108097851 - CHCHD4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237361 chr13 44400250 44405984 - TUSC8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237363 chr11 64531044 64532970 + AP006288.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237365 chr1 7008376 7014279 - AL512330.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237370 chr2 3603397 3604242 - AC010907.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237371 chr20 64056803 64057084 + AL355803.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237372 chr9 89639814 89719759 + UNQ6494 lincRNA 100129066 2 2 2 2 8 4 0 2 2 ENSG00000237373 chr21 39217093 39219805 - BRWD1-IT1 sense_overlapping 0 0 1 0 1 0 1 0 0 ENSG00000237377 chr17 15276562 15279477 - AC005703.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237378 chr13 63746741 63751080 + AL445989.1 protein_coding 112267897 0 0 0 0 0 0 0 0 0 ENSG00000237379 chr1 203954640 203955780 + CBX1P3 processed_pseudogene 1 2 0 0 0 0 0 0 0 ENSG00000237380 chr2 176121611 176137098 - HOXD-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237381 chrX 93388075 93389497 - AL023280.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237382 chr17 18312760 18313533 + RPL21P121 processed_pseudogene 0 1 1 34 30 53 16 6 41 ENSG00000237383 chr2 94725674 94725935 - CNN2P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237385 chr9 93430342 93431299 - AL583839.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237387 chr22 25580241 25581382 - AL022329.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237388 chr11 48488717 48489780 + OR4A47 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403253 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 1 0 0 0 0 0 0 0 0 ENSG00000237389 chr10 43630882 43631564 - AL645634.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237390 chr1 156388226 156395609 + AL139130.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237396 chr20 22587522 22607517 - LNCNEF lincRNA 101929685 0 0 0 0 0 0 0 0 0 ENSG00000237398 chr6 33131216 33143325 - HLA-DPA3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237399 chr10 3141632 3167972 + PITRM1-AS1 antisense 100507034 17 15 34 43 14 23 48 14 32 ENSG00000237400 chr7 36463023 36504513 + AC006960.2 antisense 1 3 5 4 7 24 10 12 10 ENSG00000237401 chr2 3957655 3974070 - LINC01304 lincRNA 100505964 0 0 0 0 0 0 0 0 0 ENSG00000237402 chr1 7368942 7370270 + CAMTA1-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000237406 chr22 35897270 35898404 - NDUFA9P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237407 chr22 21312920 21314904 + AP000552.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237408 chr11 72478221 72479237 + ART2BP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237409 chr1 160020300 160020727 + AL513302.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237410 chr11 64646399 64659681 + AP001092.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237412 chr2 232520463 232525716 + PRSS56 protein_coding This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]. 646960 GO:0005783, GO:0005615, endoplasmic reticulum, extracellular space, GO:0004252, serine-type endopeptidase activity, GO:0043010, GO:0007596, GO:0006508, GO:0002690, camera-type eye development, blood coagulation, proteolysis, positive regulation of leukocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000237413 chr1 78229599 78369464 + MGC27382 processed_transcript 149047 0 0 0 0 0 0 0 0 0 ENSG00000237414 chr9 23894990 23898054 - AL365204.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237415 chr1 110848077 110848941 - NRBF2P3 processed_pseudogene 3 2 5 0 0 1 0 3 1 ENSG00000237417 chr10 93206857 93209627 - XRCC6P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000237418 chr3 196298061 196298215 - AC069257.2 processed_pseudogene 0 0 0 0 0 0 1 0 1 ENSG00000237419 chr9 138199933 138203325 - AL954642.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000237422 chr9 91119138 91163087 - AL158071.3 lincRNA 1 0 2 0 0 0 0 0 0 ENSG00000237423 chr20 47980488 47988744 - LINC01522 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237424 chr1 47432133 47434641 - FOXD2-AS1 lincRNA 84793 3 1 7 7 10 7 8 4 6 ENSG00000237425 chr6 28732017 28732904 + RPSAP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237426 chrX 124173001 124174459 - ZIK1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237427 chrY 21130870 21131181 + TOMM22P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000237428 chr22 22366210 22367770 + ASH2LP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237429 chr1 27525805 27530561 + BX293535.1 antisense 0 0 0 3 0 0 0 0 3 ENSG00000237432 chrX 134650830 134651411 + RPS7P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237433 chr3 32190747 32191627 + RPSAP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237434 chr9 20331446 20332277 + AL512635.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237435 chr1 95937901 96022880 + AC099566.1 lincRNA 102723661 0 0 0 0 0 0 0 0 0 ENSG00000237436 chr1 6783892 6784843 - CAMTA1-DT antisense 0 0 0 15 13 20 4 10 25 ENSG00000237437 chr9 32945996 32947222 + ASS1P12 processed_pseudogene 5 7 7 3 4 3 6 2 2 ENSG00000237438 chr22 17036570 17060825 + CECR7 transcribed_unprocessed_pseudogene 3 0 7 4 6 33 3 2 5 ENSG00000237439 chr22 32129689 32130612 + Z83839.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237440 chr19 20535825 20565809 - ZNF737 protein_coding 100129842 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 62 21 48 54 72 53 70 47 61 ENSG00000237441 chr6 33291654 33299324 - RGL2 protein_coding 5863 GO:0005575, cellular_component, GO:0005515, GO:0005085, GO:0005085, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0032485, GO:0014068, GO:0010667, GO:0007265, regulation of Ral protein signal transduction, positive regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cardiac muscle cell apoptotic process, Ras protein signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000237442 chr2 41143780 41157555 + HNRNPA1P57 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237443 chr9 104590044 104590950 + OR13D2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237444 chr21 25031005 25031529 - AP001342.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237445 chr1 13657311 13659910 - AL359771.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237446 chr22 18019214 18020200 + RHEBP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237447 chrY 10190377 10192298 - CDC27P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237449 chr6 132594398 132595436 - TAAR4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237450 chr14 34485979 34486447 + RPL23AP71 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237451 chr9 62844818 62845184 + CDK2AP2P2 processed_pseudogene 1 0 0 2 0 1 0 2 0 ENSG00000237452 chr19 45733251 45764534 + BHMG1 protein_coding 388553 GO:0005634, nucleus, GO:0046983, GO:0003677, protein dimerization activity, DNA binding, GO:0090427, GO:0071300, GO:0051321, GO:0048477, GO:0007283, GO:0006357, activation of meiosis, cellular response to retinoic acid, meiotic cell cycle, oogenesis, spermatogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000237453 chr1 54792885 54794905 + AC096536.1 antisense 0 1 0 1 0 1 0 2 0 ENSG00000237456 chr3 62124204 62124608 - AC104849.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237457 chr1 190478551 190480735 + LINC01351 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237458 chrX 118128748 118129018 + TUBB4BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237460 chr1 106818239 106838167 + LINC01661 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237461 chr9 99585786 99819889 - AL359710.1 lincRNA 101928438 0 1 0 5 4 6 1 0 9 ENSG00000237463 chr1 165476841 165582155 - AL157714.2 antisense 400794 0 0 0 0 0 0 0 0 0 ENSG00000237464 chr20 45487613 45490248 + AL031663.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237466 chr7 67628022 67628349 + MTCO3P41 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237467 chrY 24077799 24079812 + USP9YP35 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237468 chr6 146594516 146598931 - AL359547.1 lincRNA 101928661 0 0 0 0 0 0 0 0 0 ENSG00000237469 chr1 227493029 227495142 - TUBB8P10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237470 chr10 15015370 15021863 - DCLRE1CP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237471 chr7 45969657 45980191 + AC073115.2 lincRNA 0 0 0 0 0 9 3 0 0 ENSG00000237472 chr22 22988263 22988581 + AC245054.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237473 chr3 173153737 173336965 + AC068759.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237475 chrX 73535503 73536241 + RPL7P53 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000237476 chr22 20957092 20964679 + LINC01637 lincRNA 101928891 1 2 2 0 0 0 1 4 0 ENSG00000237477 chr2 179273831 179285707 + AC093911.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237478 chr1 49691262 49691523 - AL390023.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237479 chr2 216866332 216867813 - AC007557.4 antisense 105373876 0 0 0 0 0 0 0 0 0 ENSG00000237480 chr1 105956694 106124564 + AL355306.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237481 chr1 229319403 229323087 + AL117350.1 antisense 20 16 27 14 13 38 22 13 17 ENSG00000237483 chr3 172225428 172225872 - RPS27AP8 processed_pseudogene 6 5 2 4 7 6 3 8 15 ENSG00000237484 chr21 24428740 24547942 + LINC01684 lincRNA 105372751 0 1 0 7 0 10 3 4 0 ENSG00000237487 chr9 38504447 38505482 - VN1R48P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237489 chr10 130020025 130110817 - C10orf143 protein_coding 387723 2 3 3 10 3 16 4 3 1 ENSG00000237490 chrX 6989329 6989783 + RPS27AP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237491 chr1 778770 810060 + AL669831.5 lincRNA 105378580 11 10 14 13 16 23 12 10 19 ENSG00000237492 chr1 247974741 247975653 + OR2L9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237493 chr12 55980432 55981035 - AC034102.1 processed_pseudogene 8 24 17 15 27 32 10 21 13 ENSG00000237494 chr6 142251847 142259632 - AL360007.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237498 chr2 82479128 82538711 - AC010105.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237499 chr6 137823673 137868233 - AL357060.1 antisense 100130476 38 57 182 112 152 1185 555 494 1508 ENSG00000237500 chr10 2499721 2500570 + AL713851.2 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000237501 chr3 172830981 172831229 - AC108667.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000237503 chr1 143846097 143846504 - AC239798.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237505 chr1 87620803 88685204 - PKN2-AS1 antisense 101927891 2 6 2 4 1 0 2 4 0 ENSG00000237506 chrX 87703343 87704203 - RPSAP15 processed_pseudogene 0 0 9 7 0 7 5 3 9 ENSG00000237510 chr2 95789654 95800166 + GPAT2P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237512 chr10 71217224 71218228 - UNC5B-AS1 antisense 728978 0 0 0 0 0 0 0 0 0 ENSG00000237513 chr7 104941063 104962334 + AC007384.1 lincRNA 28 40 54 18 41 31 20 40 43 ENSG00000237514 chr1 176616273 176616786 - PTP4A1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237515 chr16 12901620 13240413 + SHISA9 protein_coding 729993 GO:0099061, GO:0098978, GO:0045211, GO:0045202, GO:0032591, GO:0032591, GO:0032281, GO:0014069, GO:0008328, integral component of postsynaptic density membrane, glutamatergic synapse, postsynaptic membrane, synapse, dendritic spine membrane, dendritic spine membrane, AMPA glutamate receptor complex, postsynaptic density, ionotropic glutamate receptor complex, GO:0030165, PDZ domain binding, GO:2000311, GO:0048172, GO:0048172, regulation of AMPA receptor activity, regulation of short-term neuronal synaptic plasticity, regulation of short-term neuronal synaptic plasticity, 0 0 0 1 0 0 3 0 0 ENSG00000237517 chr22 18970514 18994628 + DGCR5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237520 chr1 234957231 234959989 + AL391832.1 lincRNA 31 56 82 30 51 27 31 37 19 ENSG00000237521 chr19 9247344 9252625 + OR7E24 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26648 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000237522 chr2 60936819 60938049 - NONOP2 processed_pseudogene 39 45 84 28 27 27 38 14 51 ENSG00000237523 chr10 80207710 80219657 + LINC00857 lincRNA 439990 0 0 0 0 1 0 0 0 0 ENSG00000237524 chr2 126898864 126902097 + TEX51 protein_coding 101929926 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000237525 chr2 215533133 215713895 + AC012668.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237527 chr21 21655038 21686329 - AF241725.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237528 chrX 51923552 51923740 + AL929410.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237529 chr9 83272280 83279499 + AL137847.2 antisense 1 0 0 0 0 0 0 0 0 ENSG00000237530 chr6 44525259 44526754 + AL136140.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237531 chrX 990221 994365 + AL672277.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237532 chr2 128580491 128581576 - AC012451.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237539 chrX 15646167 15646875 - AC003669.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237540 chr10 13159477 13159777 - RPL36AP36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237541 chr6 32741342 32747215 + HLA-DQA2 protein_coding This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]. 3118 GO:0071556, GO:0042613, GO:0032588, GO:0030669, GO:0030666, GO:0030658, GO:0012507, GO:0010008, GO:0005887, GO:0005886, GO:0005765, GO:0000139, integral component of lumenal side of endoplasmic reticulum membrane, MHC class II protein complex, trans-Golgi network membrane, clathrin-coated endocytic vesicle membrane, endocytic vesicle membrane, transport vesicle membrane, ER to Golgi transport vesicle membrane, endosome membrane, integral component of plasma membrane, plasma membrane, lysosomal membrane, Golgi membrane, GO:0032395, GO:0005515, MHC class II receptor activity, protein binding, GO:0060333, GO:0050852, GO:0019886, GO:0006955, GO:0002250, interferon-gamma-mediated signaling pathway, T cell receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class II, immune response, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000237542 chr2 202616700 202617212 + MTCO3P17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237546 chrY 25943268 25954152 + XKRYP6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237547 chr14 105864793 105864852 - IGHJ2P IG_J_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237548 chr9 121884636 121963719 - TTLL11-IT1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237549 chr2 101509530 101510222 - AC092570.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237550 chr15 82372196 82372912 - RPL9P9 transcribed_processed_pseudogene 2 2 4 3 5 9 6 3 3 ENSG00000237551 chr7 96283357 96283804 + AC096775.1 processed_pseudogene 1 0 1 2 2 2 5 3 3 ENSG00000237552 chr1 76758124 76779267 - LINC02567 lincRNA 110806286 0 0 0 0 0 0 0 0 0 ENSG00000237553 chr9 5193339 5193558 - AL133547.1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000237555 chr20 43388642 43389041 - AL031681.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237556 chr1 111909336 111910931 + KCND3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237557 chr9 38643042 38643768 + YWHABP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237558 chrY 17951589 17953500 + CDY7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237560 chr17 69961674 69994845 + LINC01497 lincRNA 102723487 0 0 0 0 0 0 0 0 0 ENSG00000237563 chrY 6443434 6447077 + TTTY21B lincRNA 100101115 0 0 0 0 0 0 0 0 0 ENSG00000237566 chr3 5099627 5099861 + AC090955.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237567 chr6 105612667 105632196 - Z97206.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237568 chr1 89260582 89269754 + AC099063.1 antisense 222 241 413 149 261 398 168 190 272 ENSG00000237569 chr21 23407658 23409128 - TUBAP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237571 chr2 215274992 215277947 + AC073284.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237572 chr7 63209219 63211822 + AC092001.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237574 chr2 129923177 129946703 + LINC01856 lincRNA 101927924 0 0 0 0 0 0 0 0 0 ENSG00000237575 chr17 28226563 28228065 + PYY2 transcribed_unprocessed_pseudogene 23615 GO:0005576, extracellular region, GO:0005179, hormone activity, GO:0007165, signal transduction, 0 0 0 5 4 0 3 0 0 ENSG00000237576 chr2 68832044 68837724 + LINC01888 antisense 24 34 31 18 92 42 49 57 52 ENSG00000237579 chr10 101176323 101194147 + LINC01514 lincRNA 101927396 0 0 0 0 0 0 0 0 0 ENSG00000237580 chr2 206116110 206116500 - GCSHP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237581 chr2 233946146 233955435 - AC005538.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237583 chr2 111675026 111675343 + AC093166.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237584 chrX 137441258 137441836 - RAC1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237585 chr13 44651812 44701016 + LINC00407 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237586 chr8 124301315 124301804 + AC090192.1 processed_pseudogene 2 1 0 2 1 4 4 3 3 ENSG00000237588 chr1 156687695 156691997 - AL590666.3 lincRNA 0 0 0 0 0 4 0 0 0 ENSG00000237589 chr19 53767971 53768553 - HMGN1P32 processed_pseudogene 0 1 2 3 4 7 2 1 1 ENSG00000237590 chr10 44259602 44261813 - AL137026.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237592 chr10 42185339 42185791 + IGKV1OR10-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237593 chr6 154216931 154217489 + AL445220.1 processed_pseudogene 7 14 18 7 31 33 11 23 22 ENSG00000237594 chr21 31559245 31560487 + AP000251.1 lincRNA 150051 0 0 0 0 0 0 0 0 0 ENSG00000237595 chr20 50162765 50166102 - AL161937.2 lincRNA 101927512 0 0 0 0 0 0 0 0 0 ENSG00000237596 chr6 135991936 136225751 - AL138828.1 antisense 644135 0 0 0 0 2 0 2 0 0 ENSG00000237601 chr22 24703348 24703503 + AP000358.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237603 chr3 26216322 26216877 + HMGB3P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237604 chr21 44175489 44176453 + AP001056.1 lincRNA 0 0 0 2 0 0 3 0 0 ENSG00000237605 chr1 206634649 206635622 - AL591846.2 antisense 0 1 1 0 0 0 0 0 0 ENSG00000237606 chr7 104826336 104826796 + AC091286.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237609 chr21 39028536 39029128 - AF064858.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237610 chr11 54591480 54592409 + OR4C50P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237611 chr5 7239781 7240018 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000237612 chr11 131234538 131251816 + AP002856.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237613 chr1 34554 36081 - FAM138A lincRNA 645520 0 0 0 0 0 0 0 0 0 ENSG00000237614 chr2 120542909 120544326 - AC073257.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237616 chrY 17995201 17997252 - USP9YP32 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237617 chr2 173705948 173706148 - AC013410.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237618 chr10 111322778 111323397 + BTBD7P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237619 chrX 154658741 154659643 - OR3B1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237620 chr7 77461458 77462139 + GCNT1P5 processed_pseudogene 0 0 0 0 0 0 0 3 0 ENSG00000237621 chr7 141887148 141888092 + OR9A1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237622 chr1 68375327 68375663 - ELOCP18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237623 chrX 47273366 47274390 - AL591503.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237624 chr1 39514956 39516490 + OXCT2P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237626 chr9 89978282 89987486 + AL161629.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237628 chrX 102797531 102798128 + MTCO2P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237629 chr2 25994794 25995081 + UQCRHP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237630 chr2 127170011 127170231 + NIFKP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237631 chr9 95918136 95918704 + AL161454.1 processed_pseudogene 2 1 0 0 1 0 1 1 0 ENSG00000237632 chr7 103262000 103262311 + S100A11P1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000237633 chr2 16523176 16555563 + AC104623.1 antisense 68 75 69 56 103 58 76 74 70 ENSG00000237635 chr10 133740606 133741284 + DUX4L29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237636 chr13 19290593 19344825 - ANKRD26P3 unprocessed_pseudogene 100101938 0 0 1 0 0 0 0 0 0 ENSG00000237637 chr13 32025314 32031639 - FRY-AS1 antisense 39 21 22 11 57 54 21 97 82 ENSG00000237638 chr2 64901840 64905137 - LINC02245 lincRNA 400958 0 0 0 1 0 0 0 0 0 ENSG00000237639 chr7 57650521 57650854 + AC064862.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237640 chr7 99929392 99948620 + AC004522.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000237641 chr2 231789481 231789887 - AC073476.1 processed_pseudogene 2 1 0 4 0 9 8 3 0 ENSG00000237642 chr10 110450629 110451240 + HMGB3P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237643 chr6 70394887 70399417 + AL365226.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237645 chr3 173644231 173644711 + AC092967.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237646 chr21 36803984 36806284 - HLCS-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000237649 chr6 33391536 33409924 + KIFC1 protein_coding 3833 GO:0072686, GO:0016020, GO:0005874, GO:0005871, GO:0005815, GO:0005769, GO:0005634, mitotic spindle, membrane, microtubule, kinesin complex, microtubule organizing center, early endosome, nucleus, GO:0016887, GO:0008017, GO:0005524, GO:0003777, GO:0003777, ATPase activity, microtubule binding, ATP binding, microtubule motor activity, microtubule motor activity, GO:0090307, GO:0090307, GO:0051301, GO:0007283, GO:0007080, GO:0007018, GO:0000070, mitotic spindle assembly, mitotic spindle assembly, cell division, spermatogenesis, mitotic metaphase plate congression, microtubule-based movement, mitotic sister chromatid segregation, 0 0 0 1 0 0 0 0 0 ENSG00000237650 chrX 131204068 131205010 + OR11Q1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237651 chr2 61145068 61164829 + C2orf74 protein_coding 339804 GO:0016021, integral component of membrane, GO:0005515, protein binding, 1 3 0 2 1 2 0 2 0 ENSG00000237653 chr3 191952349 191952826 - AC026320.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237654 chr11 131502759 131540867 - AP003025.1 antisense 101929653 0 0 0 0 0 0 0 0 0 ENSG00000237655 chr2 177603089 177618572 + AC073834.1 antisense 1 3 1 2 0 0 2 1 5 ENSG00000237659 chrY 2789827 2790328 + RNASEH2CP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237661 chrX 40831844 40832562 - AC092474.2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000237662 chr20 33187391 33188292 + SOCS2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237663 chr1 52252062 52252773 - DNAJC19P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237664 chr21 45338590 45341990 - LINC00316 lincRNA 388830 0 0 0 0 0 0 0 0 0 ENSG00000237665 chr3 6892632 6894022 - GRM7-AS2 antisense 105376946 0 0 0 0 0 0 0 0 0 ENSG00000237666 chr2 106470799 106477669 - AC097527.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237667 chr2 779840 868608 - LINC01115 lincRNA 339822 3 1 0 3 0 0 2 0 0 ENSG00000237668 chr22 36421273 36421644 - RPS15AP38 processed_pseudogene 1 0 0 0 0 0 0 1 0 ENSG00000237669 chr6 30006121 30007116 - AL671277.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237670 chr2 16970034 16974497 + LINC01866 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237671 chrX 49532211 49539538 + GAGE12C protein_coding 729422 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000237672 chr13 20070250 20072136 - KRR1P1 processed_pseudogene 21 15 22 23 28 69 22 23 20 ENSG00000237674 chr6 52739590 52744656 - GSTA7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237675 chr10 125574371 125578445 + TEX36-AS1 antisense 100169752 0 0 0 0 0 0 0 0 0 ENSG00000237676 chr3 32635222 32635554 - RPL30P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237679 chr9 94287699 94288550 - VDAC1P11 processed_pseudogene 0 0 0 1 2 3 2 0 4 ENSG00000237682 chrX 101537485 101539276 - AC234775.2 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000237684 chr4 117413462 117414279 + RPSAP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237685 chr6 10511036 10514546 - AL139039.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237686 chr6 43995723 44074652 - AL109615.3 antisense 101929705 0 0 2 0 0 0 0 0 0 ENSG00000237687 chr20 62695024 62700480 - LINC00686 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237689 chr22 16869478 16871126 + AC007064.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237691 chr9 21420234 21420813 + IFNWP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237693 chr5 150846523 150900736 + IRGM protein_coding This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]. 345611 GO:0042995, GO:0030670, GO:0005829, GO:0005794, GO:0005789, GO:0005739, GO:0001891, GO:0000421, GO:0000139, cell projection, phagocytic vesicle membrane, cytosol, Golgi apparatus, endoplasmic reticulum membrane, mitochondrion, phagocytic cup, autophagosome membrane, Golgi membrane, GO:0051434, GO:0050700, GO:0043539, GO:0019901, GO:0005525, GO:0005515, GO:0003924, BH3 domain binding, CARD domain binding, protein serine/threonine kinase activator activity, protein kinase binding, GTP binding, protein binding, GTPase activity, GO:1901098, GO:0098586, GO:0075044, GO:0071902, GO:0071222, GO:0070431, GO:0061762, GO:0061739, GO:0061635, GO:0060335, GO:0050829, GO:0050821, GO:0045087, GO:0043254, GO:0042742, GO:0035458, GO:0033138, GO:0031648, GO:0010800, GO:0010508, GO:0006954, GO:0006952, GO:0001934, GO:0000045, positive regulation of autophagosome maturation, cellular response to virus, positive regulation by symbiont of host autophagy, positive regulation of protein serine/threonine kinase activity, cellular response to lipopolysaccharide, nucleotide-binding oligomerization domain containing 2 signaling pathway, CAMKK-AMPK signaling cascade, protein lipidation involved in autophagosome assembly, regulation of protein complex stability, positive regulation of interferon-gamma-mediated signaling pathway, defense response to Gram-negative bacterium, protein stabilization, innate immune response, regulation of protein-containing complex assembly, defense response to bacterium, cellular response to interferon-beta, positive regulation of peptidyl-serine phosphorylation, protein destabilization, positive regulation of peptidyl-threonine phosphorylation, positive regulation of autophagy, inflammatory response, defense response, positive regulation of protein phosphorylation, autophagosome assembly, 4 4 5 13 7 14 2 2 10 ENSG00000237699 chr13 113877608 113879376 + BX072579.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237700 chr1 13303539 13308907 + PRAMEF33 protein_coding 645382 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000237701 chrY 6900753 6901372 + ATP5PFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237702 chr7 142308542 142309048 + TRBV3-1 TR_V_gene 0 0 3 0 0 0 0 0 0 ENSG00000237704 chr8 99340305 99341761 - AP004289.2 processed_pseudogene 3 0 2 5 1 0 3 0 0 ENSG00000237705 chr5 56842016 56862164 - AC008937.2 antisense 85 91 59 39 56 57 40 58 66 ENSG00000237706 chr11 89981441 89989559 - TRIM51EP unprocessed_pseudogene 0 1 4 0 0 0 0 0 3 ENSG00000237707 chr1 169104124 169104907 + AL031726.1 antisense 101928596 0 0 0 0 0 0 0 0 0 ENSG00000237708 chrX 57068914 57069685 - AL139397.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237709 chr7 88639014 88640416 + EEF1A1P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237711 chr9 5100236 5101009 + MTCO3P11 unprocessed_pseudogene 7 5 8 8 14 19 8 5 14 ENSG00000237713 chr7 13339201 13365049 - AC011287.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237714 chr5 132184876 132192808 + P4HA2-AS1 antisense 100861518 0 0 1 0 0 0 0 0 0 ENSG00000237716 chr6 4186624 4188109 - AL136309.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237717 chrX 71744828 71745077 + BX276092.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237718 chr16 67614381 67616146 - AC009095.1 antisense 6 5 8 29 45 26 27 20 21 ENSG00000237719 chr6 36091991 36092646 - Z95152.1 processed_pseudogene 63 60 98 88 117 123 72 68 99 ENSG00000237720 chr2 2834264 2838391 - AC011995.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237721 chr21 39006648 39011329 - AF064858.3 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000237722 chr2 130270440 130272272 + MTND1P29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237728 chr1 7382487 7389754 - Z97987.1 antisense 102725193 0 0 0 0 0 0 0 0 0 ENSG00000237729 chr7 93669826 93670077 - AC002075.2 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000237730 chrX 6422092 6422701 - AC078991.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237731 chr21 25643489 25644216 + RNGTTP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237732 chr2 222318275 222352989 + AC010980.1 transcribed_unprocessed_pseudogene 440934 0 0 0 0 0 0 0 0 0 ENSG00000237734 chr9 27391734 27397563 + AL163192.1 antisense 0 0 0 0 0 0 0 0 4 ENSG00000237735 chr21 16754519 16815688 - AF130359.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237737 chr2 74385486 74393882 + DCTN1-AS1 antisense 100189589 36 29 45 19 12 45 8 8 32 ENSG00000237738 chr7 5662432 5680461 - RNF216-IT1 sense_intronic 100874342 0 0 2 1 2 0 1 2 0 ENSG00000237740 chr10 87376896 87378481 + NPAP1P3 processed_pseudogene 0 1 0 0 0 0 1 0 0 ENSG00000237741 chrX 148498113 148500615 - AC002368.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237742 chr6 125578558 125749190 - AL365259.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237743 chr9 87810642 87837225 - FBP2P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237745 chr2 107914948 107915286 + RPL22P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237746 chr10 28338554 28340942 - ZNF101P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237747 chr9 87741233 87741953 + AL160279.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237748 chrX 56737242 56737577 - UQCRBP1 processed_pseudogene 0 0 1 0 0 1 0 0 4 ENSG00000237749 chr1 37556247 37556499 + AL034379.1 processed_pseudogene 0 0 0 1 0 1 0 2 1 ENSG00000237750 chr2 162768936 162797972 + AC011900.1 antisense 101929570 0 0 0 0 0 0 0 0 0 ENSG00000237751 chr2 70887871 70889959 + LINC01143 lincRNA 104355141 0 0 0 0 0 0 0 0 0 ENSG00000237752 chrX 97906644 97908090 + AL354685.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237753 chr2 112641832 112645690 - FLJ42351 lincRNA 8 3 8 9 10 15 6 3 5 ENSG00000237754 chr7 68241637 68242267 + AC093655.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237756 chr1 163259850 163260659 + AL592435.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237757 chrX 120210461 120212680 - EEF1A1P30 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000237758 chr2 230725143 230725403 - BANF1P3 processed_pseudogene 3 0 3 1 0 10 0 0 1 ENSG00000237759 chr1 244107365 244109011 + AL590483.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237760 chr7 46302120 46343621 + AC023669.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237761 chr10 104566972 104624795 + AL161646.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237763 chr1 103655290 103664554 + AMY1A protein_coding Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 276 GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular space, extracellular space, GO:0046872, GO:0005515, GO:0004556, metal ion binding, protein binding, alpha-amylase activity, GO:0005975, carbohydrate metabolic process, 3 3 0 0 0 4 1 0 0 ENSG00000237764 chr7 125172218 125379321 + AC010099.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237765 chr4 15681662 15705565 + FAM200B protein_coding 285550 644 470 741 220 308 361 275 344 313 ENSG00000237766 chr12 67265842 67266966 - GGTA2P processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000237767 chr20 40004477 40008529 + LINC01370 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237768 chr10 73071295 73074008 + AL731563.2 antisense 15 10 18 6 5 3 3 4 1 ENSG00000237770 chr9 81966564 81972130 + SPATA31D2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237772 chr2 138604510 138613167 + AC092620.1 lincRNA 16 19 6 53 106 42 67 35 44 ENSG00000237773 chr7 16970320 17299357 - AC073332.1 antisense 5 3 31 11 10 4 1 6 2 ENSG00000237774 chr12 95125760 95126389 + AC126615.1 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000237775 chr6 30866982 30875918 - DDR1-DT antisense 0 0 0 0 0 0 0 0 0 ENSG00000237781 chr1 150548562 150557724 - AL356356.1 antisense 458 538 434 586 997 859 706 718 631 ENSG00000237782 chrX 45381527 45381995 - AL020989.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237783 chr1 165581613 165582476 + AL356441.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237784 chr2 234329483 234329838 + AC097713.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237786 chr6 13486294 13486852 + GFOD1-AS1 antisense 5 10 18 0 9 6 0 8 13 ENSG00000237787 chr3 153431856 153502697 + C3orf79 lincRNA 152118 0 0 0 0 0 0 0 0 0 ENSG00000237788 chr20 49829125 49831085 + AL162615.1 processed_pseudogene 16 12 24 9 16 17 18 8 33 ENSG00000237790 chr2 34067226 34069550 + LINC01318 lincRNA 106144585 0 0 0 0 0 0 0 0 0 ENSG00000237793 chrX 153662162 153662692 + RPL18AP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237797 chr10 31693084 31707388 - AL161935.3 lincRNA 2 0 0 0 1 0 3 2 0 ENSG00000237798 chr2 174575227 174587726 + AC010894.4 antisense 516 598 706 108 212 202 159 241 207 ENSG00000237799 chr7 55736779 55739605 + CICP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237801 chrX 155828585 155829576 - AMD1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237802 chrY 9388122 9397438 - FAM197Y6 transcribed_unprocessed_pseudogene 105379270 0 0 0 0 0 0 0 0 0 ENSG00000237803 chr2 37826247 37876274 - LINC00211 lincRNA 488 246 387 95 52 77 167 58 53 ENSG00000237804 chr2 174310015 174310974 - HNRNPA1P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237806 chr3 181242345 181242901 - FAUP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237807 chr8 53515171 53523931 - AC022034.1 lincRNA 100507516 0 0 0 0 0 0 0 0 0 ENSG00000237810 chr8 62143311 62144769 - AC104852.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237813 chr7 116238260 116499465 - AC002066.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237816 chr13 71704181 71704655 + RPL21P109 processed_pseudogene 0 0 0 0 0 4 1 0 0 ENSG00000237818 chr7 97898347 97899115 - RPS3AP29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237819 chr7 92836483 92917187 + AC002454.1 antisense 101927497 1 0 0 1 0 0 0 0 1 ENSG00000237821 chr7 133169416 133170514 - AC083873.1 processed_pseudogene 0 1 1 1 1 0 0 0 1 ENSG00000237823 chrY 25564122 25566033 - CDY19P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237824 chr2 184902111 184902562 - RPL23AP33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237827 chr10 103125017 103125416 - RPS15AP29 processed_pseudogene 0 1 6 0 5 2 5 8 0 ENSG00000237828 chrX 120868611 120869807 - PA2G4P1 processed_pseudogene 1 2 0 0 0 1 0 0 0 ENSG00000237832 chr20 14933843 14935363 - AL138808.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237833 chrX 135583651 135585160 - AL391380.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237835 chr22 16855804 16856162 + AC007064.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237836 chrX 18890296 18894497 + PHKA2-AS1 antisense 103 108 103 95 131 140 93 74 80 ENSG00000237837 chr2 97301729 97304151 + AC159540.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237838 chr3 24687919 25174305 + AC092422.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237840 chr10 45706431 45727231 - FAM21FP transcribed_unprocessed_pseudogene 8 24 13 65 58 67 50 33 52 ENSG00000237841 chr21 30510307 30510497 - KRTAP19-9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237842 chr1 157059232 157060762 - AL157713.1 processed_pseudogene 6 4 4 1 0 0 2 2 3 ENSG00000237843 chr2 204475356 204507672 + AC016903.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237844 chr2 163749573 164352223 - AC016766.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237845 chr1 235942553 235943805 - AL139161.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237846 chr9 40105822 40106527 + AL773545.3 processed_pseudogene 0 0 9 0 0 5 0 0 0 ENSG00000237848 chr1 204394541 204394774 + AL606489.2 processed_pseudogene 0 0 1 0 8 14 10 3 5 ENSG00000237849 chr13 63975451 63976422 - NFYAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237850 chr15 28349051 28358080 - AC091304.1 transcribed_unprocessed_pseudogene 645202 0 0 0 0 0 0 0 0 0 ENSG00000237851 chr6 142788123 142794086 + AL023584.2 lincRNA 1 0 0 1 2 4 1 0 0 ENSG00000237852 chr1 65486406 65494188 + AC119800.1 sense_intronic 1 1 0 1 3 0 0 0 5 ENSG00000237853 chr1 61248945 61253510 - NFIA-AS1 processed_transcript 645030 0 0 0 0 0 0 0 0 0 ENSG00000237854 chr17 68101908 68115518 + LINC00674 transcribed_unprocessed_pseudogene 48 36 56 51 45 57 68 50 40 ENSG00000237856 chr2 123065321 123067722 + AC062020.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237859 chrX 154908885 154919103 - EEF1A1P31 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237860 chrX 116688870 116690185 + BX119904.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237861 chr1 197222222 197223255 + AL513325.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237862 chr22 37352190 37354839 - Z94160.1 sense_intronic 100506271 0 0 0 0 0 0 0 0 0 ENSG00000237863 chrX 108736011 108738903 + AL035425.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237864 chr21 43322417 43332039 - LINC00322 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237868 chr4 122077840 122078318 - AC097533.1 processed_pseudogene 1 1 0 2 0 3 2 0 0 ENSG00000237870 chr7 116275606 116286734 - AC073130.1 processed_transcript 102724434 0 0 0 0 0 0 0 0 0 ENSG00000237872 chr1 155433178 155434262 + POU5F1P4 processed_pseudogene 645682 4 4 5 0 1 0 0 4 1 ENSG00000237873 chrX 93042490 93042942 + AL158053.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237874 chr6 83728055 83736525 + AL136972.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237875 chrX 41790192 41790250 - AL353691.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237876 chr13 45687548 45688469 - AKR1B1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237877 chr2 186032891 186083233 - LINC01473 lincRNA 0 0 1 0 0 0 2 1 0 ENSG00000237879 chr13 30803206 30810645 + LINC00398 lincRNA 100874158 1 6 7 5 6 0 5 5 0 ENSG00000237880 chr2 107385632 107542649 - LINC01885 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237882 chr10 75089248 75089725 - PPIAP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237883 chr2 73947642 73981441 - DGUOK-AS1 antisense 100874048 71 75 99 77 80 55 58 57 51 ENSG00000237885 chr10 95031640 95032048 + AL359672.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237886 chr9 136546212 136549893 + NALT1 antisense 53 77 31 13 27 7 22 25 6 ENSG00000237887 chr2 54529343 54529801 + RPL23AP32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237888 chr17 43476198 43476665 + AC087650.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237891 chrX 122010976 122011612 - AL441985.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237892 chr2 207120884 207122044 - KLF7-IT1 sense_intronic 55 79 88 40 86 98 50 64 79 ENSG00000237896 chr7 81175508 81199115 + AC005008.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237897 chr1 105890693 105891430 - AL512844.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237899 chr1 40669089 40687588 - AL031289.1 lincRNA 2 0 0 0 0 0 0 0 0 ENSG00000237901 chr16 62357371 62357746 + AC009161.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237902 chrY 22400403 22402568 - TSPY21P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237903 chrX 119422917 119423547 + AC004000.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000237904 chr9 65798726 65799124 + BX284632.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237906 chr9 112959134 112962261 - MUPP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237910 chr2 131382643 131384061 - MTCO1P18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237911 chr17 20415792 20416697 - SRP68P3 unprocessed_pseudogene 0 2 1 0 2 0 0 4 0 ENSG00000237913 chr10 16071416 16071809 - FTLP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237914 chr20 1633508 1648472 + SIRPG-AS1 antisense 101929010 2 0 6 4 0 4 5 0 4 ENSG00000237916 chr2 109552536 109552846 + AC011753.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237917 chrY 26594851 26634652 - PARP4P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237919 chr1 70013982 70031222 - AL158840.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237920 chr1 154376966 154379273 - AL162591.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237921 chr7 19813685 19818090 - AC004543.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237922 chr1 236285976 236286960 - AL450309.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237923 chr6 30839526 30848159 - LINC02570 lincRNA 105375014 0 0 0 0 0 0 0 0 0 ENSG00000237924 chr13 94760553 94761015 - RPL21P112 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237926 chrX 51162864 51163677 + AC239367.3 unprocessed_pseudogene 0 1 0 0 0 0 0 0 1 ENSG00000237927 chr6 159586955 159589169 - AL078604.2 lincRNA 21 15 9 52 67 32 41 47 34 ENSG00000237928 chr1 60940239 60970776 - NFIA-AS2 antisense 100996570 0 0 0 0 0 0 0 0 0 ENSG00000237929 chr20 31311303 31311962 - RPL31P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237930 chr2 216785774 216786144 - AC007563.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237931 chrX 41076999 41077750 + CLIC4P3 processed_pseudogene 0 0 0 0 0 0 1 1 0 ENSG00000237934 chr1 29223933 29224816 + AL590729.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000237936 chr10 29891032 29891467 - AL353093.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237937 chr11 116639422 116658252 + AP000770.1 lincRNA 101929011 0 2 0 0 0 0 0 0 0 ENSG00000237938 chr1 15720312 15736896 - AL450998.2 antisense 181 188 268 147 145 186 186 157 110 ENSG00000237939 chr2 138307319 138307970 + AC097523.2 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000237940 chr2 241970683 241977276 + LINC01238 lincRNA 102723927 0 0 0 0 0 0 0 0 0 ENSG00000237941 chr11 2870033 2872105 + KCNQ1DN antisense Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008]. 55539 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000237943 chr10 6580419 6616452 + PRKCQ-AS1 processed_transcript 439949 24 23 47 137 22 79 81 19 71 ENSG00000237945 chr21 33915534 33977691 + LINC00649 antisense 100506334 68 73 111 121 76 215 120 53 100 ENSG00000237947 chr6 40713411 40715363 - AL583854.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237948 chr22 36174261 36174822 + MTATP6P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237949 chr10 58999626 59001543 + LINC00844 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237950 chr1 43944370 43946551 - AL357079.1 antisense 0 0 0 3 0 0 0 0 0 ENSG00000237951 chr2 26162056 26162554 + PPIL1P1 processed_pseudogene 2 0 0 0 2 0 0 1 1 ENSG00000237952 chr13 22803296 22803648 + RPL7AP73 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237953 chr2 24968958 24969224 - AC013267.1 processed_pseudogene 1 0 0 0 1 0 0 0 3 ENSG00000237954 chr1 95356229 95381000 - AL445218.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000237955 chr19 54379489 54379960 + AC245884.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237956 chr10 27378138 27378362 - TRIAP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237957 chrX 120963026 120966348 - CT47A5 protein_coding 728072 0 0 0 0 0 0 0 0 0 ENSG00000237959 chr1 88577880 88578201 + RPL36AP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237961 chr4 49238032 49245419 - AC118282.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237963 chrX 65356890 65357547 - AL441964.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237964 chr2 179399728 179400875 - AC068042.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237968 chrY 21940012 21941593 + AC007322.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237970 chr10 37337415 37338871 + TMEM161BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237971 chrX 65185018 65187265 - AL445523.1 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000237972 chr7 43918697 43920054 + TUBG1P processed_pseudogene 0 0 1 3 0 2 2 0 0 ENSG00000237973 chr1 631074 632616 + MTCO1P12 unprocessed_pseudogene 7 6 28 45 35 38 23 29 33 ENSG00000237974 chr7 117487737 117487929 + AC000111.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237975 chr1 152168125 152445456 + FLG-AS1 antisense 339400 0 0 0 0 0 0 0 0 0 ENSG00000237976 chr1 151346967 151348027 + AL391069.3 antisense 3 1 3 9 0 1 0 1 0 ENSG00000237977 chr22 30902219 30902781 + EIF4HP2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000237978 chr3 178526505 178860405 - KCNMB2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237979 chr2 65500993 65502138 - AC007389.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237980 chr1 212653999 212665434 - AL590648.3 lincRNA 3 1 1 1 0 0 0 0 0 ENSG00000237982 chr3 38270283 38270767 - AP006193.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237984 chr9 33673504 33677499 - PTENP1 transcribed_processed_pseudogene PTENP1 represents a highly homologous processed pseudogene of PTEN (phosphatase and tensin homolog), a protein that encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. PTENP1 is found on chromosome 9 and regulates PTEN by both sense and antisense RNAs (Gene ID: 101243555). This long-noncoding RNA (lncRNA) acts as a decoy for PTEN targeting microRNAs and also exerts a tumor suppressive activity. [provided by RefSeq, Jun 2020]. 11191 16 10 24 5 14 11 15 12 13 ENSG00000237986 chr10 11071541 11105504 - CELF2-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000237987 chr6 168225279 168226517 - AL606970.4 lincRNA 105378137 0 0 0 0 0 0 0 0 0 ENSG00000237988 chr6 29550407 29557721 + OR2I1P protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000237989 chr21 43358147 43362349 - LINC01679 lincRNA 101928399 2 2 4 28 4 16 36 3 10 ENSG00000237990 chr3 3039033 3069242 - CNTN4-AS1 antisense 0 2 0 0 0 0 2 0 1 ENSG00000237991 chr1 236981339 236981708 + RPL35P1 processed_pseudogene 3 0 4 5 1 0 4 0 4 ENSG00000237992 chr2 19468997 19520095 + LINC01808 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000237993 chr1 116013813 116017705 - AL365318.1 antisense 1 3 3 1 5 7 3 0 1 ENSG00000237994 chrX 28942050 28942568 + AC003659.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000237997 chrY 19986575 19987852 - RCC2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000237999 chr9 100731240 100732355 + ACTG1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238000 chr5 98213402 98214121 + AC116347.1 processed_pseudogene 1 1 4 3 1 1 2 2 0 ENSG00000238001 chr9 32676063 32676520 - SNRPCP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238002 chr9 79863019 79866875 + NPAP1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238003 chr1 201978642 201978949 + RPL10P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238004 chr2 154459857 154460820 + AC009227.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238005 chr1 234957342 234970062 - AL391832.2 lincRNA 101927851 107 137 321 52 135 108 81 117 79 ENSG00000238007 chr17 29012865 29016512 + AC024619.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000238008 chr3 33554636 33554859 + COX6CP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238009 chr1 89295 133723 - AL627309.1 lincRNA 41 45 46 26 77 11 62 55 24 ENSG00000238010 chr9 126640756 126641293 + AL161908.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000238012 chr2 64330486 64332131 - AC114752.1 lincRNA 1 4 10 1 6 5 0 13 6 ENSG00000238013 chr3 46798123 46798390 + AC109583.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238015 chr1 78666272 78666695 + AC104837.2 processed_pseudogene 0 0 1 0 0 5 0 0 0 ENSG00000238018 chr2 54661011 54680045 - AC093110.1 antisense 15 32 35 38 36 32 55 20 18 ENSG00000238019 chr6 158397885 158398561 - AL360169.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238020 chr3 184095118 184105178 - HTR3E-AS1 antisense 106478970 0 0 0 0 0 0 0 0 0 ENSG00000238021 chr10 27258762 27288824 + ARMC4P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238022 chr1 165215980 165219104 + AL390730.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238024 chr6 29993209 29993605 + DDX39BP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238025 chr13 42933858 42934892 + ZDHHC4P1 processed_pseudogene 2 1 1 0 2 3 9 2 0 ENSG00000238026 chr3 176113702 176114537 - AC117434.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238029 chr2 100425348 100426107 + AC012493.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238031 chr3 194827890 194832592 + AC090505.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238032 chrX 48177731 48178023 - AC245047.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238034 chr20 21947647 21970783 + AL109807.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238035 chr5 181306502 181324685 + AC138035.1 lincRNA 210 522 225 226 488 314 170 319 197 ENSG00000238037 chr1 44155028 44155301 - OOSP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238038 chr2 33602041 33602286 + ATP6V0E1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238039 chrX 149511509 149526264 - AC244197.2 lincRNA 5 13 26 4 4 53 13 5 22 ENSG00000238040 chrX 129871309 129877567 + SALL4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238041 chr11 56690465 56690723 + AP004245.1 processed_pseudogene 0 0 2 3 0 3 0 0 0 ENSG00000238042 chr1 221880981 221978523 - LINC02257 lincRNA 105372950 0 0 0 0 0 0 0 0 0 ENSG00000238043 chr3 193980614 194006098 + AC024559.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238045 chr16 29808636 29821252 - AC009133.1 antisense 409 514 486 691 874 805 646 637 556 ENSG00000238046 chr2 124680722 124680916 - MTND5P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238047 chrX 55180377 55181277 - MTND1P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238048 chr11 72519986 72521733 + ART2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238049 chrX 103347462 103347729 - Z92846.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238051 chr1 170211010 170211457 - ISCUP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238054 chr1 188869477 188888540 - AL691515.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238055 chr6 108318079 108318404 + Z98742.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238057 chr2 144517978 144521477 + ZEB2-AS1 antisense This gene produces a spliced long non-coding RNA which is a natural antisense transcript corresponding to the 5' UTR of zinc finger E-box binding homeobox 2 (ZEB2). It is thought that this transcript may be involved in the regulation of ZEB2 expression, and may play a role in the progression of bladder cancer. [provided by RefSeq, Aug 2015]. 100303491 GO:0010628, positive regulation of gene expression, 33 38 70 17 27 52 39 49 41 ENSG00000238058 chr9 135907812 135913513 + AL355574.1 antisense 1 2 3 2 1 3 0 0 2 ENSG00000238059 chr6 133510386 133510693 - HSPE1P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238061 chr1 185280844 185281816 + AL356273.2 processed_pseudogene 4 2 13 23 10 21 11 10 2 ENSG00000238062 chr2 230984368 230996032 - SPATA3-AS1 lincRNA 348761 0 0 5 0 0 1 0 3 0 ENSG00000238063 chr1 38474875 38496034 + LINC01685 lincRNA 1 0 0 0 3 0 0 3 2 ENSG00000238065 chr2 140898423 140899106 + AC010740.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238066 chrX 117397938 117398206 + AC005002.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238067 chrY 18508577 18509068 + XKRYP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238069 chr2 156777706 156778372 - RPLP0P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238072 chr7 129410113 129410370 - AC009244.1 processed_pseudogene 45 56 55 45 46 44 43 59 50 ENSG00000238073 chrY 7671743 7676024 - RBMY2HP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238074 chrY 9487313 9489893 + TSPY9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238075 chr3 617789 618314 - RPSAP32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238076 chr6 10459906 10460541 - MRPL48P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238077 chr3 190166764 190167651 + NMNAT1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238078 chr1 220829255 220832429 + LINC01352 lincRNA 101929730 0 1 0 1 3 0 2 2 0 ENSG00000238079 chr6 108372772 108372927 - AL356121.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000238081 chr1 89289676 89290337 - AC099063.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238082 chr2 178454716 178455428 + AC009948.2 processed_pseudogene 1 0 0 0 0 0 2 0 0 ENSG00000238083 chr17 46511511 46555650 + LRRC37A2 protein_coding 474170 GO:0016021, integral component of membrane, 11 2 19 14 4 6 17 3 1 ENSG00000238084 chr1 25398721 25399198 + AL031284.1 processed_pseudogene 6 0 0 2 2 0 1 7 5 ENSG00000238085 chr1 240998451 240998794 - AL590682.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000238086 chr13 48316863 48320475 - PPP1R26P1 processed_pseudogene 4 5 7 2 8 7 3 1 2 ENSG00000238087 chr1 166566178 166580705 + FMO8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238088 chrY 18848264 18867280 + OFD1P7Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238090 chr7 33379964 33380886 + AC006195.1 processed_pseudogene 0 2 0 2 0 0 1 0 0 ENSG00000238092 chr19 42781206 42786595 - CEACAMP6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238094 chr19 54607870 54608376 + AC245036.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238097 chr3 194247648 194257772 + LINC02037 lincRNA 101929337 0 0 0 0 0 0 0 0 0 ENSG00000238098 chr16 2339150 2426699 + ABCA17P transcribed_unitary_pseudogene 650655 0 0 0 0 0 0 8 0 1 ENSG00000238099 chr6 139468995 139474596 - LINC01625 lincRNA 645434 0 0 0 0 0 0 0 0 2 ENSG00000238102 chr20 7256580 7258214 - AL080248.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238103 chrX 23836742 23837321 - RPL9P7 processed_pseudogene 11 18 16 36 21 32 25 15 30 ENSG00000238105 chr12 100156357 100173659 - GOLGA2P5 transcribed_unprocessed_pseudogene 55592 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0005515, protein binding, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 21 18 37 75 33 43 74 22 21 ENSG00000238107 chr1 148295180 148297556 + AC245100.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238108 chr1 190797524 190797956 + AL139135.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238109 chr7 98998538 98999930 - AC004893.1 processed_pseudogene 1 1 0 7 1 3 0 1 11 ENSG00000238110 chr9 87944276 87945023 - AL353572.2 processed_pseudogene 0 1 0 6 0 0 0 0 1 ENSG00000238111 chr2 23900693 23901149 + AC066692.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238113 chr9 62801461 62813486 + LINC01410 lincRNA 103352539 173 150 184 62 159 210 95 130 176 ENSG00000238116 chrX 100801188 100803060 + Z95327.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238117 chr11 131877680 131897108 - AP000844.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238118 chr1 108383736 108421295 - SLC25A24P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238120 chr22 45604432 45605621 - LINC01589 antisense 100506737 0 0 0 0 0 0 0 0 0 ENSG00000238121 chr13 30340270 30377145 - LINC00426 lincRNA 100188949 12 14 25 109 91 93 46 54 63 ENSG00000238122 chr1 108261196 108273689 - AL359258.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238123 chrX 38801568 38803883 - MID1IP1-AS1 antisense 2 0 4 4 1 11 0 1 0 ENSG00000238124 chr7 65463071 65463438 + AC114501.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238125 chr22 20652730 20654750 + SLC9A3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238129 chr20 26188408 26196891 + AL121904.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238131 chr7 53926676 53947744 - AC073521.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238132 chr13 19563589 19564900 - CASC4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238133 chr2 173166446 173282036 - MAP3K20-AS1 antisense 339751 12 8 1 6 3 7 13 3 5 ENSG00000238135 chrY 18826107 18829487 + USP9YP10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238137 chr1 211442274 211442806 + ARPC3P2 processed_pseudogene 1 0 0 0 0 0 0 0 1 ENSG00000238138 chr3 13460294 13460398 - AC027124.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238139 chr1 67561073 67561446 + AL590559.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238140 chr1 51461721 51463416 + AC104170.2 antisense 0 1 0 2 1 0 6 0 0 ENSG00000238141 chr21 39315707 39323218 + BRWD1-AS1 antisense 100874093 0 0 0 0 0 0 0 0 0 ENSG00000238142 chr1 16888538 16889649 - BX284668.5 lincRNA 105376805 6 0 3 9 7 9 7 8 2 ENSG00000238143 chr9 101125436 101125921 - AL161631.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238145 chr1 46891639 46892830 + AL731892.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238149 chr11 28287235 28287625 - AC104978.1 processed_pseudogene 0 0 0 1 0 0 4 0 0 ENSG00000238150 chr19 53775599 53775882 + AC008753.1 processed_pseudogene 10 5 1 15 6 22 13 9 20 ENSG00000238151 chr20 30403123 30403384 - MLLT10P1 processed_pseudogene 0 0 0 2 0 1 1 0 0 ENSG00000238152 chr12 8414780 8415805 - OR7E140P unprocessed_pseudogene 1 4 8 3 3 8 5 1 12 ENSG00000238153 chr22 35164304 35165347 + Z99755.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238154 chrY 9189629 9204611 - USP9YP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238156 chr6 75454944 75458900 + AL445465.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238158 chr6 3831933 3855737 + AL391422.3 sense_overlapping This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]. 26240 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006325, chromatin organization, 0 0 0 0 0 0 0 0 0 ENSG00000238160 chr5 132419416 132426714 - AC116366.2 antisense 422 265 406 91 122 176 137 119 128 ENSG00000238161 chr11 3599595 3600706 - OR7E117P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238162 chr2 95485541 95485805 + AC009237.11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238164 chr1 2549920 2557031 - TNFRSF14-AS1 antisense 3 10 18 12 173 5 164 13 152 ENSG00000238165 chr2 50829442 50829678 - AC007560.1 processed_pseudogene 0 0 0 0 0 0 0 5 1 ENSG00000238166 chr15 78752107 78753373 + AC022748.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238168 chr12 111581379 111581773 + AC137055.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238169 chr13 25181441 25189760 + LINC01053 antisense 102723318 0 0 0 0 0 0 0 0 0 ENSG00000238171 chr2 181076051 181105968 - AC068196.1 lincRNA 1 0 0 0 0 0 0 0 2 ENSG00000238172 chr9 100116755 100117651 - RPS2P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238173 chr1 11232963 11233112 + RPL39P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238176 chr10 36940109 36943932 + AL390061.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238178 chrX 16152941 16170869 - AC078993.1 antisense 0 1 1 0 2 0 0 0 0 ENSG00000238180 chr2 128217588 128218072 + AC017079.2 processed_pseudogene 0 0 0 3 0 0 6 1 0 ENSG00000238181 chr9 120720673 120721972 + AHCYP2 processed_pseudogene 2 2 1 0 0 0 0 1 0 ENSG00000238183 chr1 226781501 226781744 + RPS27P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238184 chr11 2328749 2377992 - CD81-AS1 antisense 101927682 7 6 15 32 7 21 11 7 18 ENSG00000238185 chr13 30973289 30977623 - AL353680.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238186 chr1 40515754 40517174 - AL603839.2 antisense 3 0 2 2 3 0 5 1 1 ENSG00000238188 chrX 130645723 130646325 + AL049733.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238189 chr13 43458465 43459484 + ENOX1-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238190 chrX 50931114 50931548 - HMGB1P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238191 chrY 17621259 17625832 - CLUHP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238192 chr22 48139461 48141001 - BX284656.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238193 chrX 5305714 5307128 - AC112656.1 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000238194 chr20 59626464 59628289 - AL121908.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238195 chr22 27204211 27205126 + AL021153.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238197 chr21 32728115 32743122 + PAXBP1-AS1 antisense 100506215 29 27 61 54 21 64 56 25 59 ENSG00000238198 chr1 113011687 113073105 - AL357055.3 lincRNA 100996251 0 0 1 4 0 0 2 0 0 ENSG00000238199 chr1 11278616 11279351 - UBE2V2P3 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000238200 chrX 135751119 135752583 + MGAT2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238201 chr2 64338067 64341647 - AC114752.2 lincRNA 6 9 4 4 13 5 12 11 4 ENSG00000238202 chr7 117300861 117322236 + AC002465.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238205 chrX 40623566 40624136 + MPC1L protein_coding 347411 GO:0031305, integral component of mitochondrial inner membrane, GO:0050833, pyruvate transmembrane transporter activity, GO:0006850, mitochondrial pyruvate transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000238207 chr2 117757563 117804174 - AC009312.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238210 chrX 135252061 135253583 + ETDA protein_coding 101928677 0 0 0 0 0 0 0 0 0 ENSG00000238211 chr6 31140727 31140913 + POLR2LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238212 chr17 14834638 14900554 + LINC02096 lincRNA 107984977 0 0 0 0 0 0 0 0 0 ENSG00000238213 chr13 60274776 60276006 + TARDBPP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238215 chr10 72643011 72644650 + AL513185.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238217 chr2 199608068 199659132 + LINC01877 lincRNA 101927641 0 0 0 0 0 0 0 0 0 ENSG00000238220 chr21 32624416 32625096 - AP000275.1 processed_pseudogene 0 0 0 4 1 0 0 9 2 ENSG00000238221 chr6 7276031 7298872 + AL139095.4 antisense 92 68 59 26 34 28 25 34 19 ENSG00000238222 chrX 40834485 40836005 + MKRN4P processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000238223 chrX 115063936 115064794 - AL121878.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238224 chr1 245614773 245615145 - AC104462.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238225 chr3 25686896 25687123 + CRIP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238227 chr9 136114581 136118863 - TMEM250 protein_coding 90120 GO:0032153, GO:0031105, GO:0016021, GO:0015630, GO:0005940, GO:0005737, GO:0005654, GO:0005634, cell division site, septin complex, integral component of membrane, microtubule cytoskeleton, septin ring, cytoplasm, nucleoplasm, nucleus, GO:0060090, GO:0005515, GO:0003924, molecular adaptor activity, protein binding, GTPase activity, GO:0061640, GO:0060271, GO:0048524, GO:0034613, GO:0016032, GO:0008284, cytoskeleton-dependent cytokinesis, cilium assembly, positive regulation of viral process, cellular protein localization, viral process, positive regulation of cell population proliferation, 191 147 169 86 133 73 107 75 88 ENSG00000238228 chr7 97946987 97947998 - OR7E7P unprocessed_pseudogene 0 1 2 2 2 6 2 0 0 ENSG00000238230 chr13 94699694 94702862 - LINC00391 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238231 chr1 27990158 27990524 - AL512288.2 processed_pseudogene 10 10 6 7 10 9 11 5 5 ENSG00000238232 chr1 219557192 219557701 + AL356364.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238235 chrY 6266593 6269275 + TSPY11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238236 chr1 235519971 235520685 + MTCYBP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238241 chr13 99404684 99417224 - CCR12P transcribed_unprocessed_pseudogene 11 2 10 13 4 22 17 10 6 ENSG00000238242 chr1 60114875 60149679 + AC097066.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238243 chr1 247895587 247896531 + OR2W3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 343171 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 1 0 0 0 0 0 0 0 ENSG00000238244 chr15 90348844 90349197 - GABARAPL3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238245 chr9 62857208 62858484 + MYO5BP2 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000238246 chr10 20070805 20091784 - AC069549.1 antisense 15 8 17 17 28 33 29 28 19 ENSG00000238247 chrX 27517884 27519759 + AC006210.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238249 chr1 8893409 8894151 + HMGN2P17 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000238250 chr2 106822923 106825031 - ST6GAL2-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000238251 chr9 96407284 96407797 + AL133477.1 processed_pseudogene 1 0 1 1 0 1 1 0 0 ENSG00000238254 chr5 79849552 79849846 - AC008496.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238256 chr1 113576757 113576899 - MTND5P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238257 chr21 30762682 30762882 - AP000244.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238258 chr10 33211277 33213804 + AL121748.2 antisense 0 0 0 0 0 0 1 0 0 ENSG00000238259 chr2 168231921 168232220 - AC067940.1 processed_pseudogene 0 0 1 1 0 0 0 0 0 ENSG00000238260 chr1 3623190 3624743 - AL513320.1 antisense 17 20 28 8 4 4 1 4 9 ENSG00000238262 chr11 132284302 132285081 + NTM-IT sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000238263 chr10 43630947 43631382 + RPL21P88 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238265 chr21 21723293 21737319 - LINC00317 lincRNA 378828 0 0 0 0 0 0 0 0 0 ENSG00000238266 chr10 6779549 6879450 + LINC00707 lincRNA 100507127 0 1 0 0 0 0 0 3 0 ENSG00000238267 chr3 39338129 39338879 - AC104850.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238269 chrX 55075063 55078909 + PAGE2B protein_coding 389860 0 0 0 0 0 3 2 0 0 ENSG00000238270 chr1 189868001 189868528 - AL591504.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000238271 chr9 21455484 21456049 + IFNWP19 unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000238272 chr1 173555251 173612772 + AL139142.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000238273 chr2 105363038 105378839 + AC108058.1 antisense 1 0 1 2 1 0 0 1 0 ENSG00000238275 chr14 106286811 106287657 - HOMER2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238276 chr10 118241564 118267710 + AL354863.1 processed_transcript 101927760 0 1 0 0 0 0 0 0 0 ENSG00000238277 chr2 129063846 129071725 - AC068483.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238278 chr3 75415070 75422143 + ALG1L6P unprocessed_pseudogene 0 1 0 2 3 1 9 0 2 ENSG00000238279 chr1 153533603 153535115 + BX470102.1 antisense 18 26 52 5 19 6 5 10 12 ENSG00000238280 chr10 62682652 62805887 - AC067751.1 antisense 5 1 9 4 0 0 7 0 3 ENSG00000238282 chr20 4475638 4525200 + AL121781.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238283 chr17 60008437 60017498 - TBC1D3P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238284 chr7 42661726 42706447 - LINC01448 lincRNA 101928795 0 0 0 0 0 0 0 0 0 ENSG00000238285 chr2 203315390 203315871 - MRPL50P2 processed_pseudogene 0 1 0 0 0 0 1 1 0 ENSG00000238286 chr13 20607268 20608131 + SLC35E1P1 processed_pseudogene 7 1 9 1 3 7 1 2 3 ENSG00000238287 chr1 40493157 40508661 - AL603839.3 antisense 0 1 0 0 0 0 0 0 1 ENSG00000238288 chr9 92110168 92110514 + MTND3P23 unprocessed_pseudogene 0 0 1 0 6 2 8 4 16 ENSG00000238290 chr1 8026738 8122702 + AL034417.2 lincRNA 0 0 0 0 0 6 0 0 0 ENSG00000238291 chr10 90462717 90467952 + AL391704.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238295 chr2 177345858 177345961 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238297 chr7 107999791 107999982 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238300 chr9 33934296 33934376 - SNORD121B snoRNA 101340252 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 2 1 0 ENSG00000238302 chr12 89282223 89282285 - RNU7-120P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238304 chr11 3781395 3781456 + RNU7-50P snRNA 0 0 0 2 0 0 0 3 0 ENSG00000238311 chr15 65696833 65696936 - SNORD13E snoRNA 109617020 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 1 2 3 5 1 0 3 8 ENSG00000238316 chr1 26642286 26642389 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238317 chr2 202293051 202293134 + SNORD11 snoRNA 692058 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 4 4 1 0 ENSG00000238324 chr7 102857450 102857755 + RN7SKP198 misc_RNA 4 0 1 4 9 9 7 5 0 ENSG00000238326 chr5 56000518 56000621 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238344 chr14 20326450 20326526 - SNORD126 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238357 chr2 167631480 167631541 - RNU7-148P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238358 chr7 90119299 90122890 - AC004969.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238363 chr5 112161485 112161617 + SNORA13 snoRNA 654322 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 3 0 0 2 0 0 ENSG00000238364 chr19 10551033 10551092 - RNU7-140P snRNA 3 1 0 0 1 3 2 1 3 ENSG00000238365 chr1 154338743 154338802 + RNU7-57P snRNA 1 0 0 0 0 0 0 0 2 ENSG00000238366 chr10 6245731 6245831 - RF00019 misc_RNA 3 6 4 2 9 8 3 10 8 ENSG00000238367 chr6 98024531 98024621 + MIR2113 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302164 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000238370 chr12 589530 589589 - RNU7-103P snRNA 0 0 1 1 0 0 0 2 0 ENSG00000238371 chr2 15903669 15903772 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238372 chr8 101847256 101847360 - RF01210 snoRNA 0 0 0 0 0 0 4 0 0 ENSG00000238374 chr5 146245191 146245253 - RNU7-180P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238379 chr2 128445081 128445198 - RNA5SP103 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238380 chr10 113353425 113353484 + RNU7-165P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000238382 chr1 232700204 232700308 + RNU6-1211P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238386 chr6 70513294 70513356 + RNU7-48P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238387 chr11 9578028 9578131 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238390 chr21 31664306 31664482 + RF01241 snoRNA 1 0 2 16 4 6 1 6 2 ENSG00000238391 chr7 74487428 74487540 - RNA5SP233 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238399 chr8 112643493 112643583 + MIR2053 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302225 0 0 0 0 0 0 0 0 0 ENSG00000238405 chr10 46807458 46807573 - RNA5SP311 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238406 chr9 128543916 128543977 + RNU7-171P snRNA 1 0 0 0 1 0 0 0 1 ENSG00000238410 chr2 75489576 75489710 + RF01233 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238417 chr16 8705456 8705517 - RNU7-63P snRNA 0 0 1 0 0 0 3 0 7 ENSG00000238419 chr17 47259358 47259420 - RNU7-186P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238420 chr6 107930088 107930182 + RNU6-437P snRNA 0 1 0 1 0 0 0 0 0 ENSG00000238423 chr17 28720550 28720616 + SNORD42B snoRNA 26808 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000238426 chrX 41316488 41316589 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238427 chr3 160472348 160472416 - RNU7-136P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238431 chr7 57227001 57227066 + RNU7-157P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238440 chr12 64355762 64355865 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238441 chr5 35632963 35633024 - RNU7-130P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238443 chr12 133238455 133238549 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238444 chr11 112032499 112032598 - RNU6-893P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238446 chr10 71844735 71844794 - RNU7-38P snRNA 0 1 0 0 6 0 0 0 0 ENSG00000238447 chr17 57685529 57685592 - RNU7-134P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238452 chr20 48494234 48494309 - RNU7-144P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238456 chr15 46660658 46660760 + RNU6-1014P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238457 chr12 108668448 108668508 + RNU7-169P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238468 chr20 53668697 53668758 - RNU7-14P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238478 chr15 20738679 20738785 + RNU6-498P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238482 chr1 24777873 24777979 - RNU6-1208P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000238485 chrX 139702287 139702390 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238489 chr15 20855251 20855357 - RNU6-749P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238490 chr6 108060818 108060930 + RF00019 misc_RNA 3 2 1 5 6 0 2 2 1 ENSG00000238493 chr2 55456106 55456204 - RNU6-221P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238498 chr22 42076058 42076161 - SNORD13P1 snoRNA 0 0 0 0 0 0 0 1 0 ENSG00000238500 chr13 66630715 66630776 - RNU7-87P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238503 chr2 12030303 12030372 - RF00093 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238509 chr8 43303376 43303482 + RNU6-104P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238516 chr17 28834722 28834822 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238517 chr19 20399272 20399354 - MIR1270 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302179 0 0 0 0 0 0 0 0 0 ENSG00000238519 chr15 30384959 30385091 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238523 chr10 50590652 50590712 - RNU7-107P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238529 chr9 42863200 42863306 + RNU6-599P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238531 chr19 10109757 10109835 + SNORD105B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238540 chr14 36405214 36405274 + RNU7-93P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238542 chr2 178831371 178831449 - RNU7-104P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238551 chr9 64380194 64380300 + RNU6-1193P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238554 chr6 36639545 36639672 - RNU1-88P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238558 chr9 132963732 132963793 + RNU7-21P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238560 chr7 76523605 76523706 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238561 chr14 83750384 83750501 + RNU6ATAC28P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238562 chr11 102903892 102903953 - RNU7-159P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238570 chr2 161558544 161558646 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238575 chr18 2555358 2555492 + RF01233 snoRNA 0 0 0 1 0 0 0 0 0 ENSG00000238578 chr17 28722582 28722653 + SNORD4A snoRNA 26773 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 1 0 0 0 0 4 ENSG00000238584 chr22 35249772 35249833 + RNU7-167P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238585 chr4 55501595 55501708 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238590 chr7 128443449 128443510 - RNU7-54P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238594 chr6 150164584 150164686 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238597 chr17 28723682 28723753 + SNORD4B snoRNA 26772 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000238606 chrX 38608215 38608276 + RNU7-7P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238609 chr12 106282927 106282989 - RNU7-94P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238610 chr6 27897504 27897566 - RNU7-26P snRNA 0 4 1 0 0 0 0 1 0 ENSG00000238616 chr6 151201341 151201444 + RNU6-300P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238619 chr2 55451004 55451099 - RNU6-775P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238622 chr11 10801467 10801608 - SNORD97 snoRNA 692223 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000238627 chr21 25202207 25202315 + RNA5SP489 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238628 chr6 87720915 87721018 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238632 chr4 25598564 25598625 - RNU7-126P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238645 chr16 53334562 53334664 + RF01210 snoRNA 1 0 0 1 0 6 2 1 1 ENSG00000238649 chr17 28723429 28723492 + SNORD42A snoRNA 26809 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000238650 chr8 56073835 56073901 - SNORD54 snoRNA 26795 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000238653 chr1 64384398 64384459 - RNU7-62P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238658 chr17 78066947 78067053 + RNU6-625P snRNA 0 0 0 4 0 0 0 0 0 ENSG00000238669 chr12 53138545 53138651 - RNU6-333P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238680 chr18 66946116 66946222 + RNU6-1037P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238685 chr16 12297197 12297323 - RF01225 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238694 chr4 34966241 34966344 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238697 chr6 76446988 76447089 - RNU6-261P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238698 chr2 199191059 199191120 + RNU7-147P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238704 chr17 42440198 42440259 - RNU7-97P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238705 chr1 26554542 26554593 + MIR1976 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302190 0 0 0 0 0 0 0 0 0 ENSG00000238707 chr10 56595963 56596031 - RF01299 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238709 chrX 16767844 16767905 + RNU7-56P snRNA 0 0 1 1 0 0 0 0 0 ENSG00000238711 chr1 151439000 151439095 + RNY4P25 misc_RNA 2 0 0 4 2 8 0 5 7 ENSG00000238713 chr4 145149537 145149649 - RF00019 misc_RNA 1 0 1 0 1 2 0 0 0 ENSG00000238719 chr2 97913054 97913117 - RNU7-96P snRNA 0 0 2 0 0 0 0 1 0 ENSG00000238721 chr4 150209706 150209768 + RNU7-194P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238723 chr17 46215070 46215171 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238724 chr11 114527129 114527232 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238728 chr16 15010321 15010397 - MIR1972-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302243 0 0 0 0 0 0 0 0 0 ENSG00000238730 chrX 40535502 40535563 - RNU7-164P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238731 chr16 72673503 72673564 + RNU7-90P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238735 chr2 20246326 20246387 - RNU7-113P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238741 chr3 160514907 160515236 - SCARNA7 scaRNA 677767 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 0 0 0 1 0 5 0 6 ENSG00000238745 chr5 138623479 138623582 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238749 chr9 61883640 61883751 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238750 chr7 128344081 128344142 + RNU7-27P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238754 chr1 193057281 193057415 - SCARNA18B snoRNA 107397392 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 0 1 0 2 0 0 0 0 ENSG00000238755 chr3 153384934 153980186 - LINC02006 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000238759 chr17 71298156 71298218 - RNU7-155P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238761 chr1 112371004 112371107 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238764 chrX 17357930 17358033 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238765 chr1 148193716 148193838 + RNA5SP57 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238777 chr20 59852667 59852728 - RNU7-141P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238778 chr1 67772593 67772653 - RNU7-80P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238782 chr2 229606238 229606299 + RNU7-9P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238783 chr15 30355436 30355540 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238785 chr20 47904348 47904423 + RNU7-92P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238788 chr2 127017421 127017482 + RNU7-182P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238789 chr6 155654963 155655026 - RNU7-152P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238793 chr17 40027542 40027645 - SNORD124 snoRNA 101340251 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 1 1 0 0 0 0 0 ENSG00000238795 chr12 6967337 6967606 - SCARNA12 snoRNA This gene produces a small nuclear RNA that localizes specifically to Cajal bodies, which are conserved subnuclear organelles that are present in the nucleoplasm. This RNA is processed from an intron of the prohibitin 2 host gene. It includes both an H/ACA box and a C/D box, and is thought to guide the pseudouridylation of residue U46 in the U5 small nuclear RNA. [provided by RefSeq, Jun 2010]. 677777 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000238797 chr4 39441665 39441764 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238804 chr17 48956650 48956753 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238808 chr8 69110513 69110574 - RNU7-102P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238812 chr2 236037250 236037311 + RNU7-127P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238813 chr2 166123494 166123597 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238819 chr15 46351662 46351746 - RF01182 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238825 chr1 148388490 148388651 - RNU1-13P snRNA 0 0 0 0 0 4 0 0 0 ENSG00000238829 chr2 201141904 201141966 + RNU7-45P snRNA 5 3 12 8 7 3 9 6 17 ENSG00000238830 chr2 98840675 98840736 - RNU7-46P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238832 chr7 107603363 107603507 + RF01233 snoRNA 0 1 0 0 1 0 0 0 0 ENSG00000238833 chr20 17209060 17209220 + RNU1-131P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238835 chr5 83064204 83064337 - SCARNA18 snoRNA Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]. 677765 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 2 0 0 0 5 ENSG00000238837 chr3 182644214 182655880 + LINC02031 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000238840 chr10 4962436 4962568 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238842 chr12 80068691 80068757 - RNU7-106P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238845 chr15 44843612 44843724 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238854 chr8 141447475 141447549 + RF01161 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238862 chr3 52690744 52690827 + SNORD19B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238875 chr22 39874255 39874515 - RN7SKP210 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238880 chr11 77566934 77566994 - RNU7-59P snRNA 0 0 0 2 0 0 0 0 0 ENSG00000238882 chr9 102256604 102256710 + RNU6-329P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238884 chr8 79800133 79800195 - RNU7-85P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238886 chr9 33952769 33952850 - SNORD121A snoRNA 100113379 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 4 0 1 2 ENSG00000238898 chr17 77920098 77920258 + RNU1-80P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238901 chr8 122671291 122671394 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238902 chr3 192534009 192534112 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238904 chr5 118758211 118758274 + RNU7-34P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238906 chr7 29912528 29912632 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238908 chr20 40854119 40854229 - RNA5SP484 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238912 chr3 27547757 27547858 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238913 chr5 73828012 73828073 - RNU7-196P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238917 chr17 7576811 7576952 + SNORD10 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238923 chr12 6943816 6943878 + RNU7-1 snRNA 100147744 0 0 0 0 0 0 0 0 0 ENSG00000238924 chr3 163470205 163470266 - RNU7-82P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238926 chrX 72284945 72285045 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238933 chr9 61642383 61642494 + RF00019 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000238934 chr1 161141208 161141336 - RF01225 snoRNA 0 0 0 0 0 2 1 1 0 ENSG00000238936 chr8 41426655 41426727 + SNORD65B snoRNA 109616980 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000238941 chr15 45354779 45354885 - RNU6-953P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238942 chr3 186784796 186784864 + SNORD2 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000238943 chr12 8592476 8592585 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000238949 chr6 66728843 66728904 - RNU7-66P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238950 chr20 47826969 47827044 - RNU7-173P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238959 chr3 73027808 73027873 + RNU7-19P snRNA 1 1 0 0 0 0 0 0 0 ENSG00000238961 chr5 77080434 77080571 - SNORA47 snoRNA 677828 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000238962 chr2 10815485 10815546 - RNU7-176P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238963 chr6 154905076 154905206 - RF00096 snoRNA 0 0 1 0 0 0 1 2 0 ENSG00000238964 chr16 14643788 14643849 + RNU7-125P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000238965 chr11 111928400 111928508 + RNA5SP351 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000238966 chr8 42043504 42043575 - RF01169 snoRNA 0 4 0 9 2 1 2 6 8 ENSG00000238987 chr6 14156462 14156523 + RNU7-133P snRNA 0 1 0 0 0 1 0 0 0 ENSG00000238998 chr11 112977353 112977420 + RNU7-187P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239001 chr4 22118983 22119089 + RNU6-420P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239002 chr12 6510222 6510551 + SCARNA10 snoRNA 692148 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000239003 chr13 59480070 59480132 + RNU7-88P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239005 chr4 139436368 139436494 - RF01225 snoRNA 0 0 0 0 0 0 2 0 0 ENSG00000239007 chr1 53688749 53688812 - RNU7-95P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239008 chrX 80857076 80857202 - RF01225 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239010 chr4 40377452 40377513 - RNU7-74P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239014 chr15 24986925 24986995 + SNORD108 snoRNA 338427 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000239021 chr7 130602795 130602913 - RNA5SP246 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239023 chr21 16718998 16719157 + RNU1-98P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239030 chr7 94712409 94712511 + RNU6-956P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239035 chr15 57278570 57278673 - RF01210 snoRNA 0 0 2 0 0 0 0 0 0 ENSG00000239039 chr8 33513475 33513578 + SNORD13 snoRNA 692084 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 3 ENSG00000239040 chr4 55412636 55412738 + RF00019 misc_RNA 5 4 13 4 7 1 11 0 6 ENSG00000239041 chr2 172691299 172691402 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239043 chr14 45110883 45110968 + SNORD127 snoRNA 0 0 1 0 0 0 0 0 0 ENSG00000239053 chr2 10744186 10744249 + RNU7-138P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239057 chrX 50010672 50010750 + MIR500B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422911 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000239069 chr7 74895816 74895917 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239075 chr7 89754620 89754726 - RNU6-274P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239078 chr8 9072455 9072516 - RNU7-55P snRNA 0 0 0 0 0 0 0 1 0 ENSG00000239079 chr11 122726208 122726311 - RF01210 snoRNA 0 0 0 0 2 0 0 1 4 ENSG00000239080 chrX 136134317 136134420 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239081 chr16 24400056 24400117 - RNU7-24P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239082 chr12 121908103 121908163 + RNU7-170P snRNA 0 0 0 0 0 1 0 0 0 ENSG00000239093 chr3 187423315 187423419 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239096 chr3 179614775 179614878 - RF01210 snoRNA 2 1 0 0 0 3 2 0 0 ENSG00000239099 chr11 66919762 66919823 + RNU7-23P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239102 chr9 8797135 8797194 + RNU7-185P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239105 chr3 37573151 37573213 - RNU7-73P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239106 chr1 24625411 24625513 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239108 chr2 132152243 132152349 - RNU6-1132P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239112 chr5 9548836 9548905 + SNORD123 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239115 chr8 101307367 101307428 + RNU7-67P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239118 chr16 70030346 70030422 + MIR1972-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422922 0 0 1 1 0 0 1 0 0 ENSG00000239119 chr3 73593940 73594002 - RNU7-119P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239122 chr3 195928589 195928775 - RNU2-11P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239127 chr22 29333163 29333258 - SNORD125 snoRNA 100113380 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000239128 chr3 47250523 47250626 - SNORD13P3 snoRNA 1 1 0 0 0 0 0 3 0 ENSG00000239129 chr17 29883006 29883109 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239137 chr19 55167171 55167274 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239142 chr10 5093408 5093543 - RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239143 chr2 85332895 85332996 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239148 chr10 5004710 5004842 + RF00096 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239149 chr1 12507246 12507397 + SNORA59A snoRNA 677885 2 2 3 7 1 13 9 2 5 ENSG00000239151 chr15 89120779 89120840 + RNU7-195P snRNA 4 1 0 0 1 0 0 5 1 ENSG00000239152 chr10 45856307 45856422 + RNA5SP310 rRNA_pseudogene 0 1 1 0 0 0 3 0 0 ENSG00000239153 chr11 115627082 115627185 - RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239168 chr4 148991572 148991633 - RNU7-197P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239169 chr15 25278343 25278409 + SNORD109B snoRNA This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]. 338429 0 0 0 0 0 0 0 0 0 ENSG00000239175 chr8 30043801 30043908 - RNU6-1218P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239180 chr9 70311607 70311701 - RF00019 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000239182 chrX 118738055 118738182 + RF00566 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239183 chr9 92292461 92292593 - SNORA84 snoRNA 100124534 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000239184 chr8 68695643 68695779 + RNA5SP269 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239185 chr2 117139715 117139775 - RNU7-190P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239189 chr2 55499950 55500055 + RNU6-634P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239190 chr12 133238335 133238438 - RNU6-717P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239194 chr16 67390691 67390850 - RNU1-123P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000239195 chr11 93733228 93733300 - SNORD5 snoRNA 692072 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000239197 chr15 92417547 92417689 + RF01233 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000239198 chr8 28299683 28300566 + RPL5P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239199 chr14 55413556 55414059 - RPL21P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239200 chr14 18692032 18692408 + RPL22P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239201 chr12 92168400 92168877 + RPL21P106 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239202 chr2 231645998 231646273 - RN7SL499P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239203 chr17 16427474 16428719 + AC093484.1 processed_transcript 2 2 4 7 1 3 1 0 0 ENSG00000239205 chr3 165150006 165158062 - LINC02023 lincRNA 101928405 0 0 0 0 0 0 0 0 0 ENSG00000239207 chr3 138777832 138778810 + GAPDHP39 processed_pseudogene 0 0 0 0 0 2 2 1 1 ENSG00000239210 chr19 34533427 34534084 - RPS26P55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239211 chr8 101397636 101397933 - RN7SL563P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239212 chr3 155657760 155658612 + RPL6P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239213 chr3 136841726 136862054 - NCK1-DT antisense 7 4 6 4 2 16 20 8 8 ENSG00000239215 chr12 123721246 123721639 - RPL27P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239216 chr1 119000618 119001405 - AL139420.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239218 chr8 38434347 38435664 - RPS20P22 transcribed_processed_pseudogene 1 0 0 1 0 0 1 0 0 ENSG00000239219 chr3 169939353 169966734 - AC008040.1 antisense 100128164 0 1 4 9 2 11 0 0 0 ENSG00000239221 chr17 16191832 16192151 + RN7SL442P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239223 chr17 27274107 27274477 + RPL34P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239224 chr14 102582888 102583177 - RN7SL546P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239225 chrY 9910798 9911962 + TTTY23 lincRNA 252955 0 0 0 0 0 0 0 0 0 ENSG00000239226 chr3 78525101 78525485 + MRPS17P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239227 chr3 166861944 166862110 + AC069439.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239228 chrX 3058220 3058502 - RN7SL578P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239238 chr3 167888414 167888715 + MEMO1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239246 chr17 62516321 62516767 - AC008026.1 processed_pseudogene 1 2 0 12 0 2 0 0 3 ENSG00000239247 chr4 2316197 2316506 - RN7SL589P misc_RNA 0 0 0 0 0 4 0 0 0 ENSG00000239249 chr22 28056153 28056453 - RN7SL757P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239250 chr3 71827177 71827471 + RN7SL271P misc_RNA 0 1 3 0 3 10 1 6 5 ENSG00000239253 chr19 34021659 34021895 + RPS4XP23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239254 chr7 139172516 139174266 - AC009220.2 processed_pseudogene 0 0 1 0 2 2 0 0 3 ENSG00000239255 chr3 179452395 179452419 - AC007620.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239256 chr17 29340482 29340822 - RPL35AP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239257 chr6 29726669 29727139 - RPL23AP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239261 chr8 65155407 65155778 + RPL31P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239263 chr3 69471452 69472532 - RBM43P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239264 chr6 7881517 7910814 - TXNDC5 protein_coding This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]. 81567 GO:0070062, GO:0043202, GO:0035578, GO:0005788, GO:0005783, GO:0005576, extracellular exosome, lysosomal lumen, azurophil granule lumen, endoplasmic reticulum lumen, endoplasmic reticulum, extracellular region, GO:0005515, GO:0003756, protein binding, protein disulfide isomerase activity, GO:0043312, GO:0043277, GO:0043066, neutrophil degranulation, apoptotic cell clearance, negative regulation of apoptotic process, 3 2 2 2 2 11 1 2 2 ENSG00000239265 chr3 150852484 151080726 + CLRN1-AS1 antisense 1 1 3 0 0 1 0 2 4 ENSG00000239268 chr3 117672154 117997592 - AC092691.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239269 chr14 94726288 94727175 + RPSAP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239272 chr14 77683202 77683989 - RPL21P10 processed_pseudogene 0 0 2 0 1 1 4 1 0 ENSG00000239279 chr4 113419840 113420136 + RN7SL184P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239280 chr3 113740823 113741254 - AC108693.1 processed_pseudogene 4 13 7 3 2 0 0 1 2 ENSG00000239281 chr8 41271431 41271566 + RPS29P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239282 chr22 30285117 30289627 - CASTOR1 protein_coding 652968 GO:0061700, GO:0061700, GO:0005829, GO:0005829, GATOR2 complex, GATOR2 complex, cytosol, cytosol, GO:0042802, GO:0042802, GO:0034618, GO:0034618, GO:0005515, identical protein binding, identical protein binding, arginine binding, arginine binding, protein binding, GO:1904262, GO:1904262, GO:1903577, GO:1903577, GO:1902531, negative regulation of TORC1 signaling, negative regulation of TORC1 signaling, cellular response to L-arginine, cellular response to L-arginine, regulation of intracellular signal transduction, 4 3 1 10 1 2 0 2 1 ENSG00000239288 chr3 109241507 109243125 + AC063923.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239291 chr17 47159191 47159993 - AC002558.1 processed_pseudogene 1 0 0 4 4 0 0 1 0 ENSG00000239293 chr7 143047213 143047580 - OR9P1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239300 chr2 9505445 9512412 + AC080162.1 antisense 8 20 16 14 16 2 5 6 3 ENSG00000239304 chrY 25486640 25487322 + DNM1P48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239305 chr2 86603393 86623866 - RNF103 protein_coding The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011]. 7844 GO:0044322, GO:0016021, GO:0005789, GO:0005783, GO:0005783, endoplasmic reticulum quality control compartment, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0061630, GO:0046872, GO:0005515, GO:0004842, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, ubiquitin-protein transferase activity, GO:1904380, GO:0030433, GO:0030433, GO:0016567, GO:0016567, GO:0016567, GO:0007417, endoplasmic reticulum mannose trimming, ubiquitin-dependent ERAD pathway, ubiquitin-dependent ERAD pathway, protein ubiquitination, protein ubiquitination, protein ubiquitination, central nervous system development, 1098 1544 1423 1453 1947 2254 1857 1553 2009 ENSG00000239306 chr11 66616582 66627347 + RBM14 protein_coding This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described for this gene. [provided by RefSeq, Oct 2011]. 10432 GO:1990904, GO:0016607, GO:0016607, GO:0005737, GO:0005730, GO:0005667, GO:0005667, GO:0005654, GO:0005634, ribonucleoprotein complex, nuclear speck, nuclear speck, cytoplasm, nucleolus, transcription regulator complex, transcription regulator complex, nucleoplasm, nucleus, GO:0030374, GO:0030374, GO:0005515, GO:0003729, GO:0003723, GO:0003723, nuclear receptor coactivator activity, nuclear receptor coactivator activity, protein binding, mRNA binding, RNA binding, RNA binding, GO:0098534, GO:0060395, GO:0046600, GO:0045944, GO:0045944, GO:0045087, GO:0016575, GO:0009725, GO:0002218, GO:0002218, centriole assembly, SMAD protein signal transduction, negative regulation of centriole replication, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, innate immune response, histone deacetylation, response to hormone, activation of innate immune response, activation of innate immune response, 297 301 446 235 326 288 279 233 229 ENSG00000239311 chr3 111466313 111497095 - AC092916.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239314 chr3 109101456 109110342 + MORC1-AS1 antisense 100506506 0 0 0 0 0 0 0 0 0 ENSG00000239315 chr8 11256020 11256602 + RPL19P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239316 chr6 89478141 89478433 + RN7SL11P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239317 chr5 146138771 146139008 + AC091959.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239319 chr1 65761058 65761352 - RN7SL854P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239320 chr19 39597832 39598002 + RPS29P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239322 chr2 70941817 70948610 - ATP6V1B1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000239323 chr14 31462795 31463371 - AL163973.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000239327 chr14 20616644 20616991 - AL163195.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239332 chr2 46816697 46859007 + LINC01119 lincRNA 100134259 0 0 0 0 0 0 0 0 0 ENSG00000239333 chrX 16539137 16539439 - RN7SL658P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239335 chr12 66130751 66134449 + LLPH-DT antisense 103625681 5 2 3 0 2 0 0 1 0 ENSG00000239344 chr8 103768281 103769029 + AC090686.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239345 chrX 100855288 100856379 - HNRNPA1P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239350 chr3 72085109 72085287 + AC105265.1 processed_pseudogene 7 11 12 5 4 26 9 9 31 ENSG00000239351 chr3 149938997 149939799 - NPM1P29 processed_pseudogene 2 10 8 1 23 10 7 11 17 ENSG00000239354 chr11 111105547 111105895 - RPS17P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239356 chr11 65695552 65695837 + RN7SL309P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239365 chr14 104830838 104831171 - RPS26P49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239367 chr19 1570575 1570860 - RN7SL477P misc_RNA 0 0 0 0 3 0 0 0 0 ENSG00000239374 chr12 116755395 116755874 - AC090013.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000239377 chr7 150379854 150383885 - AC073111.1 antisense 1 1 1 0 0 6 2 1 0 ENSG00000239381 chr3 181534177 181700611 - AC125613.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000239382 chr19 36009120 36014239 - ALKBH6 protein_coding 84964 GO:0005925, GO:0005737, GO:0005654, focal adhesion, cytoplasm, nucleoplasm, GO:0051213, GO:0046872, GO:0005515, dioxygenase activity, metal ion binding, protein binding, GO:0055114, oxidation-reduction process, 25 31 19 41 40 37 17 33 28 ENSG00000239383 chr3 75590298 75590649 - AC108724.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239388 chr3 57268347 57292682 - ASB14 protein_coding The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]. 142686 GO:0005829, cytosol, GO:0043687, GO:0035556, GO:0016567, post-translational protein modification, intracellular signal transduction, protein ubiquitination, 13 26 18 21 26 35 27 15 16 ENSG00000239389 chr5 140882208 141012344 + PCDHA13 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56136 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000239390 chr5 144140879 144141166 + RN7SL87P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239392 chr9 34133157 34134696 - AL354989.2 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000239393 chr5 177346073 177346426 + AC146507.1 processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000239395 chr1 247711813 247723764 - AC118470.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000239396 chr2 45569199 45569492 - RN7SL414P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000239397 chr12 46004038 46004685 - AC084878.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239398 chr18 59972914 59973207 + RN7SL342P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239402 chr2 130429827 130441413 - CYP4F62P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239405 chr3 128538020 128538631 + TMED10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239407 chrX 102884414 102906158 + Z68871.1 lincRNA 1 2 3 2 1 5 2 0 2 ENSG00000239408 chr3 149464839 149465201 - AC108751.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239412 chr3 147276768 147277252 + RPL21P71 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239413 chr12 101424441 101424691 + RPS27P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239415 chr21 46251549 46254133 - AP001469.3 antisense 2 2 0 6 3 3 5 0 1 ENSG00000239419 chr7 143290615 143290910 + RN7SL535P misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000239426 chr11 124207183 124208112 + OR8F1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239428 chr1 171392229 171392790 + GM2AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239429 chrX 151611664 151671196 + AF274854.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239432 chr3 125756086 125756462 + AF186996.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239435 chr22 16575363 16582707 - KCNMB3P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239437 chr3 129591349 129591635 + RN7SL752P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239438 chr14 78231281 78231619 - RPS26P48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239439 chr3 112030931 112031649 - RFKP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239440 chr3 81986138 82463675 + LINC02008 lincRNA 105377180 0 0 0 0 0 0 0 0 1 ENSG00000239443 chr3 155309427 155309807 - PABPC1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239445 chr3 98714330 98732651 - ST3GAL6-AS1 antisense 1 3 0 0 0 0 0 0 0 ENSG00000239446 chr22 29711820 29719714 - AC004882.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000239453 chr3 113588748 113590189 - SIDT1-AS1 antisense 0 0 0 2 0 3 2 2 3 ENSG00000239454 chr3 73999805 74005609 + LINC02047 lincRNA 101927346 0 0 0 0 0 0 0 0 0 ENSG00000239455 chr3 107104911 107107000 - AC074043.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239462 chr3 98902424 99018562 + AC091212.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000239464 chr4 43598544 43598844 - RN7SL691P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239465 chr15 64631109 64631914 - AC090543.1 processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000239466 chr4 84687725 84688000 - RN7SL552P misc_RNA 0 1 0 2 5 0 3 3 0 ENSG00000239467 chr2 170771113 170778148 + AC007405.3 lincRNA 285141 GO:0005515, protein binding, 0 1 0 0 0 0 0 0 0 ENSG00000239468 chr7 148890226 148890513 + RN7SL569P misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000239470 chr11 9660438 9660920 + AC011979.1 processed_pseudogene 5 5 1 11 4 11 5 4 17 ENSG00000239471 chr15 20095733 20096029 - RN7SL584P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239472 chr6 5918564 5918844 - RN7SL221P misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000239473 chr12 80028893 80029631 + RPL7P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239474 chr2 169509702 169526262 + KLHL41 protein_coding This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]. 10324 GO:0033017, GO:0033017, GO:0031463, GO:0031430, GO:0031430, GO:0031143, GO:0005886, GO:0005856, GO:0005856, GO:0005829, GO:0005829, GO:0005789, GO:0005737, GO:0005654, GO:0001726, sarcoplasmic reticulum membrane, sarcoplasmic reticulum membrane, Cul3-RING ubiquitin ligase complex, M band, M band, pseudopodium, plasma membrane, cytoskeleton, cytoskeleton, cytosol, cytosol, endoplasmic reticulum membrane, cytoplasm, nucleoplasm, ruffle, GO:0005515, protein binding, GO:2001014, GO:2000291, GO:2000291, GO:0048741, GO:0045661, GO:0045661, GO:0045214, GO:0043687, GO:0035914, GO:0031275, GO:0030239, GO:0016567, GO:0006941, regulation of skeletal muscle cell differentiation, regulation of myoblast proliferation, regulation of myoblast proliferation, skeletal muscle fiber development, regulation of myoblast differentiation, regulation of myoblast differentiation, sarcomere organization, post-translational protein modification, skeletal muscle cell differentiation, regulation of lateral pseudopodium assembly, myofibril assembly, protein ubiquitination, striated muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000239480 chr7 102426818 102434780 - AC073517.1 antisense 25 27 14 4 12 19 7 14 6 ENSG00000239481 chr11 71669520 71670297 + RPS3AP41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239482 chr3 112302478 112332791 + AC112487.1 lincRNA 105374042 0 0 0 0 0 0 0 0 0 ENSG00000239483 chr3 128798841 128799201 - RPS15AP16 processed_pseudogene 7 7 6 7 10 7 9 3 0 ENSG00000239486 chr7 102380465 102382737 - AC091390.3 unprocessed_pseudogene 0 1 5 2 4 6 1 1 13 ENSG00000239490 chr18 22586465 22587227 + RPS4XP18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239494 chr1 169859756 169860052 + RN7SL333P misc_RNA 1 0 1 1 8 0 0 3 5 ENSG00000239498 chr2 220105656 220450778 + AC019211.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239503 chr3 128748538 128749489 - MARK2P8 processed_pseudogene 6 17 21 1790 2399 3105 2629 2021 2041 ENSG00000239504 chr1 88477828 88478114 - RN7SL583P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239508 chr3 155449184 155457753 + PLCH1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000239510 chr14 58564146 58564616 + RPL9P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239511 chr22 21125660 21128063 - POM121L7P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239513 chr3 137771949 137780878 + LINC01210 lincRNA 100507274 0 0 0 0 0 0 0 0 0 ENSG00000239516 chr3 180827977 180829850 - FLYWCH1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239517 chr5 74931662 74931817 + AC116337.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239519 chr3 85992183 86028007 - CADM2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000239521 chr7 100200653 100272232 - CASTOR3 protein_coding 352954 GO:0061700, GO:0005829, GATOR2 complex, cytosol, GO:1904262, GO:1903577, GO:1902531, negative regulation of TORC1 signaling, cellular response to L-arginine, regulation of intracellular signal transduction, 270 307 272 244 281 255 273 242 217 ENSG00000239523 chr3 123585542 123644568 + MYLK-AS1 antisense 100506826 1 1 0 3 2 0 0 1 0 ENSG00000239524 chr19 5277734 5278133 + RPL32P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239525 chr4 83502699 83503034 + RPL30P5 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000239527 chr17 62397397 62398142 + RPS23P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239528 chr5 116562562 116562930 + RPS14P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239532 chr4 37821361 37821838 + AC108022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239533 chrY 24209567 24215581 - GOLGA2P2Y transcribed_unprocessed_pseudogene There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. 84559 0 0 0 0 0 0 0 0 0 ENSG00000239539 chr10 19489101 19489400 + HMGN1P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239542 chr17 41730127 41730405 - RN7SL399P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239544 chr14 72963645 72964008 - AL442663.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000239545 chr4 55215624 55215919 - RN7SL822P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239547 chr22 17352881 17353177 - RN7SL843P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239552 chr17 48557262 48560333 + HOXB-AS2 antisense 0 1 1 1 0 0 0 0 0 ENSG00000239553 chr11 66712720 66713009 - RN7SL12P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239555 chr16 55291379 55291675 - RN7SL841P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239556 chr7 43984995 43990207 - AC004951.2 transcribed_unprocessed_pseudogene 18 12 11 5 10 2 8 12 15 ENSG00000239557 chr3 52373652 52374882 + AC092045.1 processed_pseudogene 45 45 50 54 87 71 63 65 64 ENSG00000239559 chr11 67682772 67683058 - RPL37P2 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000239560 chr1 44117098 44117397 - RN7SL479P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239568 chr3 72583370 72583535 + AC104435.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239569 chr7 105013425 105014321 - KMT2E-AS1 antisense 226 232 327 221 351 301 229 281 322 ENSG00000239570 chr3 151269440 151270129 + SETP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239571 chr2 89936859 89937679 + IGKV2D-30 IG_V_gene 0 0 0 0 2 0 1 2 0 ENSG00000239572 chr3 87641412 87793629 - AC108749.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239576 chr3 49758483 49758656 + COX6CP14 processed_pseudogene 0 2 2 0 1 0 0 3 0 ENSG00000239577 chrX 72198712 72199050 + RN7SL388P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239579 chrX 137595265 137595547 + RN7SL325P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239580 chr8 69922751 69923047 - RN7SL675P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239586 chr3 106901068 106901965 + MTND1P16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239587 chr2 104865407 104867496 - AC018730.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000239589 chr3 94938172 95152509 + LINC00879 lincRNA 255025 0 0 0 0 0 0 0 0 0 ENSG00000239590 chr9 122519141 122520082 + OR1J4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26219 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000239593 chr9 121279863 121282730 - AL513122.2 antisense 1 0 3 0 0 7 0 0 2 ENSG00000239595 chr17 31465543 31465832 + RN7SL79P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239600 chr11 115951105 115951491 - AP000797.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239602 chr5 146137755 146138381 + AC091959.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239605 chr2 47045538 47155378 - STPG4 protein_coding 285051 GO:0042585, GO:0042585, GO:0005737, GO:0005634, GO:0001940, GO:0001940, GO:0001939, GO:0001939, germinal vesicle, germinal vesicle, cytoplasm, nucleus, male pronucleus, male pronucleus, female pronucleus, female pronucleus, GO:0042393, GO:0003682, GO:0003682, histone binding, chromatin binding, chromatin binding, GO:1901537, GO:1901537, GO:0090116, GO:0044727, GO:0044727, GO:0006325, positive regulation of DNA demethylation, positive regulation of DNA demethylation, C-5 methylation of cytosine, DNA demethylation of male pronucleus, DNA demethylation of male pronucleus, chromatin organization, 1 9 9 2 6 2 4 9 5 ENSG00000239607 chr17 75041740 75042015 + RN7SL573P misc_RNA 3 5 2 3 3 14 5 1 2 ENSG00000239608 chr3 128075810 128079056 + RUVBL1-AS1 antisense 100874089 0 0 1 0 2 5 0 0 1 ENSG00000239614 chr3 93988634 93988946 - HMGN1P7 processed_pseudogene 0 0 0 0 0 0 2 2 5 ENSG00000239615 chr5 134267421 134267856 + AC104109.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239617 chr12 48903418 48903813 - AC073610.1 processed_pseudogene 0 0 1 0 0 0 0 0 2 ENSG00000239620 chr3 127283784 127288046 - PRR20G protein_coding 100419008 0 0 0 1 0 0 0 0 0 ENSG00000239622 chr7 25689580 25689959 - AC005165.2 processed_pseudogene 0 1 0 1 0 0 0 1 0 ENSG00000239625 chr10 30366064 30366299 - RN7SL241P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239626 chr6 73290403 73291262 + RPSAP41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239627 chr4 41389115 41389593 + RPL12P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239628 chr3 170345678 170353961 + AC073288.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239632 chr3 106895729 106896408 - MTND4LP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239636 chr1 35569813 35577729 - AC004865.2 antisense 1 3 6 11 0 3 8 3 22 ENSG00000239640 chr1 52714399 52714695 + RN7SL62P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239641 chr3 142654784 142656745 - PLS1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000239642 chr5 131806993 131945698 - MEIKIN protein_coding 728637 GO:0000779, GO:0000779, GO:0000777, GO:0000777, condensed chromosome, centromeric region, condensed chromosome, centromeric region, condensed chromosome kinetochore, condensed chromosome kinetochore, GO:0051754, GO:0051754, GO:0045143, GO:0045143, GO:0016321, GO:0016321, GO:0010789, GO:0010789, GO:0007060, GO:0007060, meiotic sister chromatid cohesion, centromeric, meiotic sister chromatid cohesion, centromeric, homologous chromosome segregation, homologous chromosome segregation, female meiosis chromosome segregation, female meiosis chromosome segregation, meiotic sister chromatid cohesion involved in meiosis I, meiotic sister chromatid cohesion involved in meiosis I, male meiosis chromosome segregation, male meiosis chromosome segregation, 0 0 0 0 0 0 1 0 0 ENSG00000239648 chr7 141803701 141804652 - MTND1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239649 chr2 33722721 33728207 - MYADML transcribed_processed_pseudogene 151325 0 0 0 0 0 0 0 0 0 ENSG00000239650 chr6 57919784 57930291 - GUSBP4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239653 chr3 64004022 64012148 + PSMD6-AS2 antisense 100507062 70 96 159 155 360 425 172 217 340 ENSG00000239659 chr18 58631259 58632120 + RPL9P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239661 chr3 147844123 147846657 - AC092925.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239665 chr10 13631143 13668445 + AL157392.3 processed_transcript 209 319 232 340 510 433 373 328 311 ENSG00000239670 chr1 32986952 32988233 + AL355864.2 unprocessed_pseudogene 1 12 7 0 4 5 2 6 11 ENSG00000239671 chr17 42714299 42714643 + AC100793.1 processed_pseudogene 0 0 0 1 2 0 5 0 3 ENSG00000239672 chr17 51153536 51162428 + NME1 protein_coding This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]. 4830 GO:0070062, GO:0048471, GO:0032587, GO:0016020, GO:0005882, GO:0005829, GO:0005829, GO:0005813, GO:0005741, GO:0005737, GO:0005634, GO:0005634, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, ruffle membrane, membrane, intermediate filament, cytosol, cytosol, centrosome, mitochondrial outer membrane, cytoplasm, nucleus, nucleus, nucleus, GO:0043024, GO:0043015, GO:0042802, GO:0019899, GO:0019215, GO:0005525, GO:0005524, GO:0005515, GO:0004550, GO:0004550, GO:0004536, GO:0003723, GO:0003697, GO:0000977, GO:0000287, ribosomal small subunit binding, gamma-tubulin binding, identical protein binding, enzyme binding, intermediate filament binding, GTP binding, ATP binding, protein binding, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, deoxyribonuclease activity, RNA binding, single-stranded DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, magnesium ion binding, GO:0071398, GO:0071333, GO:0051591, GO:0050679, GO:0043388, GO:0042981, GO:0035690, GO:0033574, GO:0021766, GO:0015949, GO:0014075, GO:0010976, GO:0010629, GO:0008285, GO:0007595, GO:0006897, GO:0006259, GO:0006241, GO:0006228, GO:0006183, GO:0006165, GO:0002762, cellular response to fatty acid, cellular response to glucose stimulus, response to cAMP, positive regulation of epithelial cell proliferation, positive regulation of DNA binding, regulation of apoptotic process, cellular response to drug, response to testosterone, hippocampus development, nucleobase-containing small molecule interconversion, response to amine, positive regulation of neuron projection development, negative regulation of gene expression, negative regulation of cell population proliferation, lactation, endocytosis, DNA metabolic process, CTP biosynthetic process, UTP biosynthetic process, GTP biosynthetic process, nucleoside diphosphate phosphorylation, negative regulation of myeloid leukocyte differentiation, 0 2 3 1 4 10 5 3 6 ENSG00000239674 chr22 32141267 32143272 + Z83839.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239677 chr3 73621713 73626796 + PDZRN3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000239679 chr4 43863274 43863549 + RN7SL193P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239683 chr18 35383354 35384025 - AC007998.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239684 chr9 63775892 63776143 - PTGER4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239686 chr14 55282296 55282643 - AL158801.1 processed_pseudogene 0 3 2 0 17 15 13 3 4 ENSG00000239689 chr18 50823577 50824120 + RPL17P46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239690 chr1 234904186 234904488 + RN7SL668P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239694 chr5 41951313 41952193 - RPSAP38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239696 chr7 7078302 7079742 - AC092104.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239697 chr17 7548891 7557890 + TNFSF12 protein_coding The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]. 8742 GO:0048471, GO:0005887, GO:0005886, GO:0005886, GO:0005615, GO:0005576, perinuclear region of cytoplasm, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, extracellular region, GO:0005515, GO:0005164, GO:0005125, GO:0005102, protein binding, tumor necrosis factor receptor binding, cytokine activity, signaling receptor binding, GO:2001238, GO:0097191, GO:0045766, GO:0045732, GO:0043542, GO:0033209, GO:0030154, GO:0007165, GO:0006955, GO:0006915, GO:0001938, GO:0001525, positive regulation of extrinsic apoptotic signaling pathway, extrinsic apoptotic signaling pathway, positive regulation of angiogenesis, positive regulation of protein catabolic process, endothelial cell migration, tumor necrosis factor-mediated signaling pathway, cell differentiation, signal transduction, immune response, apoptotic process, positive regulation of endothelial cell proliferation, angiogenesis, 57 85 99 34 43 66 31 67 88 ENSG00000239699 chr3 80216261 80217234 + HNRNPA3P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239701 chr12 7032108 7032398 + AC006512.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000239702 chr17 44290856 44291151 - RN7SL507P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239703 chr15 56029684 56029981 - RN7SL568P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239704 chr17 15436015 15503608 - CDRT4 protein_coding 284040 GO:0005515, protein binding, 2 1 2 0 1 14 7 2 2 ENSG00000239705 chr9 125241663 125257018 + AL354710.2 antisense 1 0 0 0 0 0 1 0 0 ENSG00000239706 chr3 156988117 156988712 - AC117392.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239708 chr5 107734773 107735066 - RN7SL782P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239710 chr1 92974827 92975114 - RN7SL692P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239713 chr22 39077005 39087743 + APOBEC3G protein_coding This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene catalyzes site-specific deamination of both RNA and single-stranded DNA. The encoded protein has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Mar 2017]. 60489 GO:1990904, GO:0030895, GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0000932, GO:0000932, ribonucleoprotein complex, apolipoprotein B mRNA editing enzyme complex, cytosol, cytoplasm, cytoplasm, nucleus, P-body, P-body, GO:0047844, GO:0047844, GO:0042802, GO:0008270, GO:0005515, GO:0004126, GO:0004126, GO:0003723, GO:0003723, deoxycytidine deaminase activity, deoxycytidine deaminase activity, identical protein binding, zinc ion binding, protein binding, cytidine deaminase activity, cytidine deaminase activity, RNA binding, RNA binding, GO:0080111, GO:0070383, GO:0070383, GO:0051607, GO:0051607, GO:0048525, GO:0045869, GO:0045869, GO:0045087, GO:0045071, GO:0016554, GO:0016553, GO:0016032, GO:0010529, GO:0010529, GO:0009972, GO:0002230, DNA demethylation, DNA cytosine deamination, DNA cytosine deamination, defense response to virus, defense response to virus, negative regulation of viral process, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, innate immune response, negative regulation of viral genome replication, cytidine to uridine editing, base conversion or substitution editing, viral process, negative regulation of transposition, negative regulation of transposition, cytidine deamination, positive regulation of defense response to virus by host, 220 133 350 207 150 381 180 160 195 ENSG00000239715 chr7 174920 176013 + AC093627.2 lincRNA 105375115 0 0 0 0 0 0 0 0 0 ENSG00000239716 chr3 157976561 157978136 - AC079943.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239718 chr3 149086332 149102823 + HLTF-AS1 antisense 100873945 1 0 1 3 2 1 4 0 0 ENSG00000239719 chr7 149191043 149191223 - AC004890.1 processed_pseudogene 1 0 0 1 1 0 0 1 0 ENSG00000239722 chr7 128693450 128693924 + IMP3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239726 chr11 118931216 118931490 + RN7SL688P misc_RNA 1 0 0 0 1 0 0 0 0 ENSG00000239731 chr10 31992087 31992381 - RN7SL825P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239732 chr3 52221080 52226163 - TLR9 protein_coding The protein encoded by this gene is a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 2017]. 54106 GO:0036020, GO:0036019, GO:0032009, GO:0016324, GO:0016323, GO:0016021, GO:0010008, GO:0005886, GO:0005886, GO:0005789, GO:0005783, GO:0005768, GO:0005764, GO:0005737, GO:0005576, GO:0000139, endolysosome membrane, endolysosome, early phagosome, apical plasma membrane, basolateral plasma membrane, integral component of membrane, endosome membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endosome, lysosome, cytoplasm, extracellular region, Golgi membrane, GO:0045322, GO:0042803, GO:0038187, GO:0035197, GO:0005149, GO:0004888, unmethylated CpG binding, protein homodimerization activity, pattern recognition receptor activity, siRNA binding, interleukin-1 receptor binding, transmembrane signaling receptor activity, GO:1901895, GO:1901224, GO:0051770, GO:0051607, GO:0051092, GO:0051092, GO:0050871, GO:0050829, GO:0050729, GO:0046330, GO:0045944, GO:0045577, GO:0045087, GO:0043507, GO:0043410, GO:0043123, GO:0042742, GO:0034163, GO:0034162, GO:0034123, GO:0034122, GO:0032760, GO:0032757, GO:0032755, GO:0032755, GO:0032741, GO:0032735, GO:0032733, GO:0032729, GO:0032728, GO:0032728, GO:0032727, GO:0032725, GO:0032722, GO:0032717, GO:0032715, GO:0032640, GO:0032640, GO:0032088, GO:0030890, GO:0030277, GO:0010628, GO:0007252, GO:0007249, GO:0006955, GO:0006954, GO:0002755, GO:0002639, GO:0002237, GO:0002224, GO:0002224, GO:0001817, negative regulation of ATPase-coupled calcium transmembrane transporter activity, positive regulation of NIK/NF-kappaB signaling, positive regulation of nitric-oxide synthase biosynthetic process, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of B cell activation, defense response to Gram-negative bacterium, positive regulation of inflammatory response, positive regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, regulation of B cell differentiation, innate immune response, positive regulation of JUN kinase activity, positive regulation of MAPK cascade, positive regulation of I-kappaB kinase/NF-kappaB signaling, defense response to bacterium, regulation of toll-like receptor 9 signaling pathway, toll-like receptor 9 signaling pathway, positive regulation of toll-like receptor signaling pathway, negative regulation of toll-like receptor signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-8 production, positive regulation of interleukin-6 production, positive regulation of interleukin-6 production, positive regulation of interleukin-18 production, positive regulation of interleukin-12 production, positive regulation of interleukin-10 production, positive regulation of interferon-gamma production, positive regulation of interferon-beta production, positive regulation of interferon-beta production, positive regulation of interferon-alpha production, positive regulation of granulocyte macrophage colony-stimulating factor production, positive regulation of chemokine production, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, tumor necrosis factor production, tumor necrosis factor production, negative regulation of NF-kappaB transcription factor activity, positive regulation of B cell proliferation, maintenance of gastrointestinal epithelium, positive regulation of gene expression, I-kappaB phosphorylation, I-kappaB kinase/NF-kappaB signaling, immune response, inflammatory response, MyD88-dependent toll-like receptor signaling pathway, positive regulation of immunoglobulin production, response to molecule of bacterial origin, toll-like receptor signaling pathway, toll-like receptor signaling pathway, regulation of cytokine production, 25 24 34 35 40 45 65 22 35 ENSG00000239736 chr19 41599735 41605984 + CEACAMP3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000239739 chr3 170740351 170741365 - AC026316.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239742 chr20 50557682 50557998 - RN7SL672P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000239744 chr10 30555601 30555904 - RN7SL63P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239745 chrX 74390692 74390989 + RN7SL790P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239748 chr18 70512727 70513008 + RN7SL795P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239763 chr16 74312609 74313390 - AC009120.1 processed_pseudogene 2 14 7 5 16 8 21 5 12 ENSG00000239767 chr3 86264555 86267361 - AC108733.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239774 chr3 180566718 180601935 - AC125618.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239775 chr7 44064908 44066079 + AC017116.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000239779 chr2 74458329 74460891 + WBP1 protein_coding The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]. 23559 GO:0005575, cellular_component, GO:0050699, GO:0050699, GO:0050699, GO:0005515, WW domain binding, WW domain binding, WW domain binding, protein binding, GO:0008150, biological_process, 28 27 41 33 55 42 22 34 36 ENSG00000239780 chr18 50457887 50458795 + RPLP0P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239783 chr20 47071865 47072236 + AL121776.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239789 chr7 55951819 55956501 + MRPS17 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]. 51373 GO:0005763, GO:0005763, GO:0005763, GO:0005763, GO:0005743, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, GO:0019843, GO:0005515, GO:0003735, GO:0003735, rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 4 4 9 10 2 6 6 2 7 ENSG00000239791 chr16 30572250 30583860 + AC002310.2 antisense 2 7 6 3 0 12 15 9 9 ENSG00000239792 chr9 30670964 30671966 - C2orf27AP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239793 chr4 78768499 78768750 + AC098818.1 processed_pseudogene 0 8 6 0 3 2 0 1 0 ENSG00000239794 chr1 91829774 91830066 - RN7SL653P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239797 chr3 145824257 145824739 - RPL21P39 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000239799 chr3 52823935 52825314 + ITIH4-AS1 antisense 100873993 8 17 18 16 11 27 6 25 36 ENSG00000239801 chr3 57628810 57654918 + DENND6A-AS1 antisense 27 29 22 27 37 30 27 23 15 ENSG00000239804 chr3 125787888 125788146 - AC092902.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239805 chr3 181847526 181847885 - AC007547.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239808 chr5 104260531 104260826 - RN7SL255P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239809 chr17 62381668 62382015 + AC008026.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239810 chr1 12824605 12831410 - PRAMEF11 protein_coding 440560 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000239819 chr2 90220727 90221384 + IGKV1D-8 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000239820 chr14 67751228 67751544 - RN7SL213P misc_RNA 0 0 0 1 3 1 0 0 0 ENSG00000239821 chr19 18333276 18333573 + RN7SL513P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239822 chr10 430239 430504 - RN7SL754P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239823 chr17 64390158 64390263 - RF00019 misc_RNA 0 0 2 3 2 0 1 0 0 ENSG00000239825 chr7 100906291 100906572 - RN7SL549P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239827 chr13 40882577 40921774 - SUGT1P3 transcribed_unprocessed_pseudogene 283507 2 0 1 8 2 10 7 1 7 ENSG00000239828 chr3 107272611 107421304 - AC063944.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239829 chr3 87323268 87324723 + KRT8P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239830 chr19 9683294 9684073 - RPS4XP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239831 chr3 57519669 57520010 - RNF7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239835 chr3 120028740 120029868 + AC092910.1 processed_pseudogene 1 3 2 11 1 4 4 2 0 ENSG00000239839 chr8 7015869 7018301 - DEFA3 protein_coding Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]. 1668 GO:0070062, GO:0035578, GO:0005796, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, azurophil granule lumen, Golgi lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0042803, GO:0003674, protein homodimerization activity, molecular_function, GO:0071222, GO:0061844, GO:0061844, GO:0061844, GO:0051673, GO:0051607, GO:0050832, GO:0050830, GO:0050830, GO:0050829, GO:0031640, GO:0030520, GO:0019731, GO:0019731, GO:0019730, GO:0002227, GO:0002227, cellular response to lipopolysaccharide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, membrane disruption in other organism, defense response to virus, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, killing of cells of other organism, intracellular estrogen receptor signaling pathway, antibacterial humoral response, antibacterial humoral response, antimicrobial humoral response, innate immune response in mucosa, innate immune response in mucosa, 11 44 77 18 85 150 10 62 191 ENSG00000239840 chr16 47150132 47150566 - RPL23AP72 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239855 chr2 88966262 88966767 - IGKV1-6 IG_V_gene 0 1 0 0 1 0 0 0 0 ENSG00000239856 chr11 86324012 86324309 - RN7SL225P misc_RNA 0 0 0 0 0 3 0 0 0 ENSG00000239857 chr7 876552 896436 + GET4 protein_coding 51608 GO:0071818, GO:0071818, GO:0005829, GO:0005737, GO:0005730, GO:0005654, BAT3 complex, BAT3 complex, cytosol, cytoplasm, nucleolus, nucleoplasm, GO:0051087, GO:0005515, chaperone binding, protein binding, GO:1904378, GO:0071816, GO:0071816, GO:0051220, GO:0045048, maintenance of unfolded protein involved in ERAD pathway, tail-anchored membrane protein insertion into ER membrane, tail-anchored membrane protein insertion into ER membrane, cytoplasmic sequestering of protein, protein insertion into ER membrane, 114 79 82 237 186 197 242 132 141 ENSG00000239861 chr11 103045237 103045712 + AP001486.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239862 chr2 89297264 89297785 - IGKV1-37 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000239868 chr19 41286424 41286693 - RN7SL34P misc_RNA 7 0 1 2 1 0 2 4 0 ENSG00000239870 chr5 67608654 67609130 + AC112206.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239872 chr8 121380137 121380465 - RPL35AP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239873 chr1 119558755 119559774 - GAPDHP27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239877 chr3 118943073 118948241 + IGSF11-AS1 antisense 100506765 0 0 0 0 0 0 0 0 0 ENSG00000239880 chr3 180323107 180325059 + AC068760.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239881 chr12 120369440 120371688 + RPS27P25 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239883 chr10 45854093 45972154 - PARGP1 transcribed_unprocessed_pseudogene 65 52 65 54 80 47 50 53 43 ENSG00000239884 chr17 2680958 2681236 + RN7SL608P misc_RNA 9 14 26 22 20 18 23 11 7 ENSG00000239886 chr17 41226648 41227652 + KRTAP9-2 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 83899 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000239887 chr1 162366908 162386818 + C1orf226 protein_coding 400793 0 5 8 9 3 21 0 4 6 ENSG00000239888 chr17 15408384 15408688 + RN7SL792P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239893 chrY 8068896 8070723 - ZNF736P9Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239899 chr2 11584773 11585047 + RN7SL674P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239900 chr22 40346500 40390463 + ADSL protein_coding The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. 158 GO:0032991, GO:0005829, GO:0005829, GO:0005829, protein-containing complex, cytosol, cytosol, cytosol, GO:0070626, GO:0042802, GO:0004018, GO:0004018, (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity, identical protein binding, N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity, N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity, GO:0044208, GO:0044208, GO:0042594, GO:0014850, GO:0009168, GO:0009060, GO:0007584, GO:0006189, GO:0006167, GO:0006164, GO:0001666, 'de novo' AMP biosynthetic process, 'de novo' AMP biosynthetic process, response to starvation, response to muscle activity, purine ribonucleoside monophosphate biosynthetic process, aerobic respiration, response to nutrient, 'de novo' IMP biosynthetic process, AMP biosynthetic process, purine nucleotide biosynthetic process, response to hypoxia, 5 4 3 7 9 10 2 2 4 ENSG00000239906 chr1 139790 140339 - AL627309.2 antisense 23 22 35 39 15 52 47 21 37 ENSG00000239908 chr9 100102559 100102839 + RN7SL75P misc_RNA 0 2 2 0 1 0 0 0 0 ENSG00000239910 chr14 74174456 74174753 + RN7SL530P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239911 chr7 151877042 151879223 + PRKAG2-AS1 antisense 2 5 15 6 10 14 2 6 5 ENSG00000239912 chr19 53413190 53413345 + RPL39P36 processed_pseudogene 0 2 0 0 0 1 2 0 0 ENSG00000239917 chr8 117523271 117524061 - RPS10P16 unprocessed_pseudogene 0 4 8 5 0 6 0 0 2 ENSG00000239919 chr7 129477875 129478101 + SNRPGP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239920 chr11 5254392 5678434 - AC104389.4 protein_coding 1 2 0 4 9 3 1 2 16 ENSG00000239921 chr3 127480690 127537780 - LINC01471 lincRNA 101927149 0 0 0 0 0 0 0 0 0 ENSG00000239922 chr3 147940004 148006755 + AC092958.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239923 chr20 14223041 14223325 + RN7SL864P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239924 chr11 63115880 63116338 - RPL29P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239926 chr3 64174401 64175147 + PRDX3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239930 chr21 42496539 42497443 + AP001625.3 sense_intronic 101930094 0 0 0 1 0 0 6 2 0 ENSG00000239932 chr17 60696313 60696605 + RN7SL606P misc_RNA 1 0 3 3 1 0 0 0 0 ENSG00000239939 chr4 108407843 108408578 - RPSAP34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239941 chr3 152118173 152151724 - AC108718.1 lincRNA 15 9 20 6 10 4 9 11 7 ENSG00000239942 chr10 67825310 67825600 - RN7SL394P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239944 chr7 142386378 142386647 + TRBV8-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239945 chr1 89551 91105 - AL627309.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239946 chr3 114873114 114876514 + ZBTB20-AS3 lincRNA 0 3 0 0 1 3 1 1 3 ENSG00000239948 chr19 43660500 43660776 - RN7SL368P misc_RNA 24 51 56 660 756 1082 951 624 824 ENSG00000239951 chr2 89142574 89143160 - IGKV3-20 IG_V_gene 4 1 0 6 17 0 10 17 4 ENSG00000239953 chr6 37361185 37361483 + RN7SL273P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239958 chr2 62262387 62262671 - RN7SL51P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239959 chr3 75446769 75491202 - ENPP7P2 unprocessed_pseudogene 0 7 11 6 1 3 13 0 5 ENSG00000239961 chr19 54333185 54339150 - LILRA4 protein_coding This gene encodes an immunoglobulin-like cell surface protein that is expressed predominantly on plasmacytoid dendritic cells (PDCs) and modulates the function of these cells in the immune response. Expression of this gene is downregulated by interleukin 3 (IL3). This gene is one of a cluster of highly related genes located at chromosomal region 19q13.4. [provided by RefSeq, Jan 2015]. 23547 GO:0032998, GO:0005887, Fc-epsilon receptor I complex, integral component of plasma membrane, GO:0015026, GO:0005515, GO:0005102, coreceptor activity, protein binding, signaling receptor binding, GO:0045087, GO:0038095, GO:0034164, GO:0034156, GO:0032720, GO:0032687, innate immune response, Fc-epsilon receptor signaling pathway, negative regulation of toll-like receptor 9 signaling pathway, negative regulation of toll-like receptor 7 signaling pathway, negative regulation of tumor necrosis factor production, negative regulation of interferon-alpha production, 0 0 1 0 0 5 2 0 3 ENSG00000239964 chr6 36522191 36522501 + RN7SL748P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239967 chr7 144077721 144077825 + OR2A41P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239969 chr7 102364162 102380633 + AC091390.4 transcribed_unprocessed_pseudogene 100289561 0 1 5 0 3 0 1 0 13 ENSG00000239975 chr2 89913982 89916052 + IGKV1D-33 IG_V_gene 1 0 0 0 0 0 0 0 0 ENSG00000239978 chr3 125734295 125735198 + OR7E53P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239981 chr7 144118461 144119360 - OR2A15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239983 chr4 33968174 33968526 + AC016687.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239984 chr1 115606471 115606768 + RN7SL420P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000239985 chr7 65038372 65038565 + AC073210.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239986 chr9 42196333 42196662 - AL445584.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239988 chr19 32963499 32963865 + RPL31P60 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239989 chr22 18794414 18794804 - AC008132.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239991 chr3 55166910 55175732 - AC092059.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000239992 chr7 142681415 142681869 + TRBVA TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239994 chr3 119744139 119750350 - AC069444.1 antisense 0 2 0 3 0 0 0 0 0 ENSG00000239995 chr2 48632856 48633353 - TPT1P11 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239997 chr3 106848671 106849260 + FCF1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000239998 chr19 54572920 54590287 + LILRA2 protein_coding This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014]. 11027 GO:0005887, GO:0005576, integral component of plasma membrane, extracellular region, GO:0038023, GO:0003823, GO:0001791, signaling receptor activity, antigen binding, IgM binding, GO:0071611, GO:0051928, GO:0050867, GO:0045087, GO:0034144, GO:0032760, GO:0032755, GO:0032731, GO:0032637, GO:0032635, GO:0032604, GO:0031665, GO:0007165, GO:0006952, GO:0002283, GO:0002220, granulocyte colony-stimulating factor production, positive regulation of calcium ion transport, positive regulation of cell activation, innate immune response, negative regulation of toll-like receptor 4 signaling pathway, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, interleukin-8 production, interleukin-6 production, granulocyte macrophage colony-stimulating factor production, negative regulation of lipopolysaccharide-mediated signaling pathway, signal transduction, defense response, neutrophil activation involved in immune response, innate immune response activating cell surface receptor signaling pathway, 64 16 179 5 34 35 27 17 143 ENSG00000240002 chr3 114930541 114931449 + YBX1P3 processed_pseudogene 0 0 0 3 0 0 0 0 2 ENSG00000240003 chr5 80500332 80501400 + RPL7P24 processed_pseudogene 6 1 0 0 12 14 0 1 0 ENSG00000240005 chr4 26859806 26860599 - AC106047.1 antisense 1 2 1 1 0 9 1 0 1 ENSG00000240006 chr3 134313576 134321171 + LINC02004 lincRNA 105374119 0 0 0 0 0 0 0 0 0 ENSG00000240012 chr3 143342246 143347071 + SLC9A9-AS1 antisense 100885796 0 0 0 1 0 0 0 0 0 ENSG00000240014 chr4 147808926 147809209 + RN7SL254P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240015 chr8 38123274 38124651 + AC084024.1 antisense 0 2 0 1 2 0 0 0 0 ENSG00000240021 chr1 178513077 178548602 + TEX35 protein_coding 84066 GO:0015630, GO:0005634, GO:0005634, microtubule cytoskeleton, nucleus, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000240023 chr14 35388121 35389069 - AL133163.1 processed_pseudogene 0 1 1 0 7 9 0 2 13 ENSG00000240024 chr3 183447608 183456013 + LINC00888 transcribed_unprocessed_pseudogene 100505687 3 1 2 8 0 4 4 0 1 ENSG00000240027 chr12 63760358 63760612 - AC084357.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240031 chr7 141862860 141863737 + OR9A3P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240032 chr3 146066344 146069185 - LNCSRLR antisense 109729161 0 0 0 0 0 0 0 0 0 ENSG00000240033 chr3 166835021 166844956 - AC069439.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240034 chr3 106900593 106900855 - MTND6P6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240036 chr11 27581680 27582055 + AC104563.1 processed_pseudogene 13 7 7 12 3 16 7 5 4 ENSG00000240038 chr1 103553815 103579534 + AMY2B protein_coding Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]. 280 GO:0070062, extracellular exosome, GO:0103025, GO:0046872, GO:0004556, alpha-amylase activity (releasing maltohexaose), metal ion binding, alpha-amylase activity, GO:0005975, carbohydrate metabolic process, 268 237 321 491 454 420 465 247 321 ENSG00000240040 chr2 88811186 88861563 - AC244205.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000240041 chr14 105864215 105864260 - IGHJ4 IG_J_gene 0 1 0 0 0 0 0 0 0 ENSG00000240043 chr16 70444674 70444912 - RPS27P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240045 chr3 155290229 155293775 - DWORF protein_coding 100507537 GO:0033017, GO:0016021, sarcoplasmic reticulum membrane, integral component of membrane, GO:0008047, GO:0005515, enzyme activator activity, protein binding, GO:1902082, GO:1901894, GO:0043085, GO:0031449, positive regulation of calcium ion import into sarcoplasmic reticulum, regulation of ATPase-coupled calcium transmembrane transporter activity, positive regulation of catalytic activity, regulation of slow-twitch skeletal muscle fiber contraction, 0 0 0 0 0 0 0 0 0 ENSG00000240047 chr8 74055882 74056647 + RPS3AP32 processed_pseudogene 0 1 0 0 0 0 3 0 0 ENSG00000240048 chr3 154352136 154354799 - DDX50P2 processed_pseudogene 2 0 0 4 0 0 0 0 4 ENSG00000240051 chr14 96456576 96457041 - RPL23AP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240052 chr5 53413504 53414260 + AC108114.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240053 chr6 31670167 31673776 + LY6G5B protein_coding LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]. 58496 GO:0032991, GO:0009897, GO:0009897, GO:0005576, protein-containing complex, external side of plasma membrane, external side of plasma membrane, extracellular region, GO:0042802, identical protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000240056 chr6 134941392 134942450 + AL445190.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000240057 chr3 113019532 113183301 + AC078785.1 antisense 107986114 15 8 15 20 5 13 6 9 15 ENSG00000240058 chr5 122675795 122676755 + ARGFXP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240063 chr3 182783236 182793394 - AC069431.1 antisense 0 1 1 0 0 2 0 0 4 ENSG00000240065 chr6 32844136 32859585 + PSMB9 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]. 5698 GO:1990111, GO:0070062, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0000502, spermatoproteasome complex, extracellular exosome, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, proteasome complex, GO:0005515, GO:0004298, GO:0004175, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:2000116, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of cysteine-type endopeptidase activity, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 0 0 3 0 0 0 0 0 0 ENSG00000240068 chr3 154023835 154024298 + RPL21P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240069 chr2 109984058 109984988 + GPAA1P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240074 chr17 29855759 29856332 + RPL9P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240083 chr5 88381957 88382725 + RPS3AP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240084 chr3 166160414 166160704 - MTND4LP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240086 chr3 135138469 135439888 - AC092969.1 antisense 1 0 3 4 2 11 0 4 3 ENSG00000240087 chr12 68552995 68553882 - RPSAP12 processed_pseudogene 2 0 1 3 3 7 3 2 6 ENSG00000240089 chr10 86992253 87000435 + BMS1P3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240093 chr7 182935 194180 - AC093627.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000240095 chr3 145961755 145963623 + AC055758.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240096 chr14 93223598 93224139 - AL132838.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240097 chr3 60616822 60618079 + AC104164.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240098 chr11 126245035 126245282 + RN7SL351P misc_RNA 1 0 0 0 3 0 0 0 0 ENSG00000240100 chr12 116908312 116908627 + AC083806.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240103 chr17 22527324 22529570 + AC132825.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240106 chr19 16539688 16539984 - RN7SL146P misc_RNA 2 5 1 3 4 11 6 0 2 ENSG00000240107 chr3 103538635 103540487 - AC046144.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240108 chr20 26103416 26114028 - NCOR1P1 transcribed_unprocessed_pseudogene 149934 0 0 0 0 0 0 0 0 0 ENSG00000240116 chr8 22977877 22978127 + RN7SL303P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240121 chr11 129537869 129538114 + RPS27P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240122 chr22 16595089 16595485 - FABP5P11 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000240125 chr17 40439467 40439917 - RPL23AP75 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000240128 chr3 169902980 169904260 - KRT18P43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240131 chr14 23229961 23230116 - AL049829.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240132 chr7 151501878 151503463 + ETF1P2 processed_pseudogene 4 4 2 15 10 22 8 2 8 ENSG00000240135 chr3 72876737 72878102 - PSMD12P unprocessed_pseudogene 2 0 0 1 0 1 1 1 0 ENSG00000240137 chr3 150703564 150720146 + ERICH6-AS1 antisense 101928085 2 1 2 6 2 2 1 4 4 ENSG00000240138 chr3 161324913 161326219 - EEF1GP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240143 chrX 129794994 129796963 + AL023653.1 3prime_overlapping_ncRNA 67 76 80 56 76 78 52 55 48 ENSG00000240151 chr8 117163968 117164255 + RN7SL826P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240152 chr4 61143656 61153962 + LINC02271 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240156 chr3 70751123 70751350 + COX6CP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240159 chr4 184254509 184255330 + AC079080.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240160 chr22 23261782 23262071 - RN7SL263P misc_RNA 1 3 0 7 4 1 6 0 3 ENSG00000240163 chr15 60390371 60390682 + AC087385.1 processed_pseudogene 0 0 0 3 0 11 0 1 0 ENSG00000240167 chr4 42471810 42472380 + RPS7P7 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000240173 chr7 140645829 140646126 + RN7SL771P misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000240174 chr11 84639993 84640565 + AP000852.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240175 chr3 65893816 65925297 + MAGI1-AS1 antisense 100873983 0 0 0 0 0 0 0 0 0 ENSG00000240179 chr14 28489910 28490362 + RPL26P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240180 chr10 5861805 5862594 - RPL12P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240183 chr2 111930175 111930467 + RN7SL297P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240184 chr5 141475947 141512979 + PCDHGC3 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 5098 GO:0016020, GO:0005887, membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0050808, GO:0016339, GO:0007156, GO:0007155, synapse organization, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 1 0 3 1 4 12 2 2 6 ENSG00000240186 chr22 31059989 31060285 + RN7SL633P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240189 chr8 33580210 33580508 - RN7SL621P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240194 chr1 110480752 110491277 + CYMP transcribed_unitary_pseudogene 643160 0 0 0 0 0 0 0 0 0 ENSG00000240197 chr19 54294049 54294366 - AC245884.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240198 chr3 56940040 56960854 + ARHGEF3-AS1 antisense 100874200 0 0 0 0 0 0 0 0 0 ENSG00000240199 chr16 75698531 75698816 - RN7SL520P misc_RNA 0 0 0 1 0 0 0 0 1 ENSG00000240201 chr14 30055210 30055954 + AL133372.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240202 chr11 93556913 93557206 + RN7SL223P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240203 chr3 42676189 42676491 - RN7SL567P misc_RNA 0 0 0 0 0 0 4 0 0 ENSG00000240204 chr7 129502479 129512932 + SMKR1 protein_coding 100287482 0 0 1 0 2 0 2 0 2 ENSG00000240205 chr12 115717725 115718013 + RN7SL865P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240207 chr3 158732263 158784070 + AC080013.1 antisense 0 2 0 1 1 5 1 2 0 ENSG00000240210 chr14 68338728 68339528 - AL122013.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000240211 chr7 100436204 100438504 + AC092849.1 antisense 73 53 48 354 317 290 216 152 140 ENSG00000240215 chr9 33662166 33662663 + TRBV25OR9-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240216 chr3 149229356 149291800 - CPHL1P transcribed_unitary_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000240219 chr1 204626775 204629712 + AL512306.2 lincRNA 71 67 79 133 150 145 94 70 93 ENSG00000240224 chr2 233712992 233773299 + UGT1A5 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008]. 54579 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0015020, glucuronosyltransferase activity, GO:0052697, GO:0052696, xenobiotic glucuronidation, flavonoid glucuronidation, 0 0 0 0 0 0 0 0 0 ENSG00000240225 chr19 56368099 56379828 + ZNF542P transcribed_unprocessed_pseudogene 147947 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 9 4 6 17 9 15 6 6 3 ENSG00000240230 chr7 898778 975599 - COX19 protein_coding COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]. 90639 GO:0005829, GO:0005758, GO:0005758, GO:0005739, cytosol, mitochondrial intermembrane space, mitochondrial intermembrane space, mitochondrion, GO:0005515, protein binding, GO:0033617, GO:0006878, mitochondrial cytochrome c oxidase assembly, cellular copper ion homeostasis, 102 85 128 112 118 95 109 122 70 ENSG00000240231 chr19 23597341 23597592 + RPS27P29 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000240233 chr14 77547566 77547846 - RN7SL587P misc_RNA 1 1 0 1 6 2 0 1 2 ENSG00000240235 chr9 99185587 99185866 - RN7SL794P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240236 chr3 122317609 122318741 + HNRNPA1P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240237 chr8 133002605 133003075 - AF305872.1 processed_pseudogene 3 2 2 0 0 0 0 0 0 ENSG00000240238 chr15 59552615 59553093 - AC092754.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240240 chr9 40264971 40329221 + BX664727.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000240241 chr3 78266940 78294731 + AC108752.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240244 chr1 119596167 119597179 - GAPDHP33 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000240246 chr3 149433044 149433274 - AC108751.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240247 chr8 6996766 6999195 - DEFA1B protein_coding Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. 728358 GO:0070062, GO:0062023, GO:0062023, GO:0035578, GO:0005796, GO:0005615, GO:0005615, GO:0005615, GO:0005576, extracellular exosome, collagen-containing extracellular matrix, collagen-containing extracellular matrix, azurophil granule lumen, Golgi lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0005515, protein binding, GO:0071222, GO:0061844, GO:0061844, GO:0061844, GO:0061844, GO:0051873, GO:0051673, GO:0051607, GO:0050832, GO:0050830, GO:0050830, GO:0050829, GO:0044657, GO:0043312, GO:0042832, GO:0031640, GO:0030520, GO:0019731, GO:0019731, GO:0019730, GO:0010818, GO:0006955, GO:0006935, GO:0002227, GO:0002227, cellular response to lipopolysaccharide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, antimicrobial humoral immune response mediated by antimicrobial peptide, killing by host of symbiont cells, membrane disruption in other organism, defense response to virus, defense response to fungus, defense response to Gram-positive bacterium, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, pore formation in membrane of other organism during symbiotic interaction, neutrophil degranulation, defense response to protozoan, killing of cells of other organism, intracellular estrogen receptor signaling pathway, antibacterial humoral response, antibacterial humoral response, antimicrobial humoral response, T cell chemotaxis, immune response, chemotaxis, innate immune response in mucosa, innate immune response in mucosa, 0 0 2 0 1 0 0 0 0 ENSG00000240250 chr5 134517810 134518092 + RN7SL541P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240253 chr2 130690133 130718831 + FAR2P3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000240254 chr3 119226486 119290666 + B4GALT4-AS1 antisense 100874201 10 4 13 7 2 17 7 2 0 ENSG00000240255 chr3 87630301 87631619 - PSMC1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240265 chr3 69535664 69536693 - AC099328.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240268 chr7 142240740 142247067 - MOXD2P transcribed_unprocessed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000240270 chr17 80976454 80976948 + RPL12P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240271 chr8 105011107 105011568 + AC090142.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240280 chr17 63849292 63864379 + TCAM1P transcribed_unitary_pseudogene This pseudogene is located downstream from the growth hormone locus on chromosome 17. This locus evolved by a series of partial duplications that have disrupted the human gene. A homologous gene in mouse encodes a testis-specific cell adhesion protein that may play a role in germ cell-Sertoli cell interactions. [provided by RefSeq, Apr 2012]. 146771 0 0 0 0 0 0 0 0 0 ENSG00000240281 chr5 41895068 41895599 + AC034222.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240286 chr2 209178804 209182018 + MEAF6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240288 chr3 10285754 10293449 + GHRLOS antisense This gene is an antisense gene of the ghrelin/obestatin prepropeptide gene. Alternatively spliced transcript variants have been identified and they may function as non-coding regulatory RNAs. [provided by RefSeq, Jan 2013]. 100126793 60 33 107 43 63 52 30 38 27 ENSG00000240291 chr10 18513115 18545651 - AL450384.2 antisense 5 4 4 10 9 10 9 3 8 ENSG00000240294 chr10 24908522 24908812 - RN7SKP241 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240296 chr19 54268005 54269045 + AC245052.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240298 chr11 25588475 25588795 - RPL36AP40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240299 chr9 121494519 121494821 + RN7SL187P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240302 chr2 199901081 199901377 - RN7SL717P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240303 chr3 132558138 132660723 - ACAD11 protein_coding This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]. 84129 GO:0031966, GO:0005777, GO:0005743, GO:0005739, GO:0005634, mitochondrial membrane, peroxisome, mitochondrial inner membrane, mitochondrion, nucleus, GO:0070991, GO:0050660, GO:0017099, GO:0005515, GO:0004466, GO:0003995, medium-chain-acyl-CoA dehydrogenase activity, flavin adenine dinucleotide binding, very-long-chain-acyl-CoA dehydrogenase activity, protein binding, long-chain-acyl-CoA dehydrogenase activity, acyl-CoA dehydrogenase activity, GO:0033539, GO:0006635, fatty acid beta-oxidation using acyl-CoA dehydrogenase, fatty acid beta-oxidation, 4 7 5 22 11 20 17 7 24 ENSG00000240305 chr17 44719760 44720597 - AC091152.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000240306 chr9 26895678 26895970 + RN7SL100P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240309 chr3 89588714 89590097 - MTCO1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240311 chr16 3496201 3496768 + AC004224.1 processed_pseudogene 0 0 0 0 1 0 2 1 0 ENSG00000240317 chr2 219102434 219102719 + RN7SL764P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240320 chr19 39697904 39698073 + RPS29P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240322 chr7 143298516 143298814 + RN7SL481P misc_RNA 0 2 0 0 3 1 0 1 2 ENSG00000240327 chrX 113976341 113976633 - RN7SL93P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240328 chr12 19508904 19509245 + AC091805.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000240338 chr16 75226074 75228197 + AC009078.2 transcribed_unprocessed_pseudogene 100506281 0 0 0 0 0 0 0 0 0 ENSG00000240342 chr12 118246084 118246962 + RPS2P5 processed_pseudogene 282 256 475 694 309 789 532 337 549 ENSG00000240344 chr2 200870907 200889303 - PPIL3 protein_coding This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008]. 53938 GO:0071013, catalytic step 2 spliceosome, GO:0005515, GO:0003755, protein binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, GO:0000398, protein folding, protein peptidyl-prolyl isomerization, mRNA splicing, via spliceosome, 31 22 41 71 37 85 41 21 46 ENSG00000240347 chr7 80318253 80318544 + RN7SL35P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240350 chr2 111491273 111570974 + AC017002.3 lincRNA 0 3 6 1 1 3 1 3 2 ENSG00000240354 chr3 161816909 161821908 - AC131211.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240355 chr7 46476457 46477940 - AC004869.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240356 chr2 113610502 113627090 - RPL23AP7 transcribed_processed_pseudogene 5 19 8 12 18 8 13 5 5 ENSG00000240359 chr3 63203218 63203448 - UBL5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240361 chr1 57598 64116 + OR4G11P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000240364 chr18 3377916 3378247 - RPL31P59 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240366 chr15 75186651 75186968 - RPL36AP45 processed_pseudogene 3 8 3 0 6 3 1 2 4 ENSG00000240370 chr12 6873389 6884741 + RPL13P5 transcribed_processed_pseudogene 4 5 8 31 73 71 34 15 16 ENSG00000240371 chr11 57576292 57577080 - RPS4XP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240373 chr3 169978536 169985715 - SEC62-AS1 antisense 11 4 11 6 2 0 2 7 4 ENSG00000240374 chr1 35292196 35292498 - RN7SL503P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240375 chr3 113919222 113920200 + VPS26AP1 processed_pseudogene 5 12 6 10 12 7 3 8 5 ENSG00000240376 chr5 33162179 33162807 + AC010343.1 processed_pseudogene 44 38 83 182 52 101 99 62 84 ENSG00000240382 chr2 89117342 89117844 - IGKV1-17 IG_V_gene 0 2 0 0 9 0 0 8 0 ENSG00000240385 chr11 4018948 4019118 + RPS29P20 processed_pseudogene 0 0 0 0 1 0 4 0 2 ENSG00000240386 chr1 152776372 152776728 + LCE1F protein_coding 353137 GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000240388 chr5 91354478 91354934 + AC008799.1 processed_pseudogene 0 0 0 0 1 0 2 1 0 ENSG00000240392 chr14 35262462 35263036 + RPL9P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240393 chr3 117674342 117675144 - AC092691.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240395 chr8 42341767 42342634 - RPL5P23 processed_pseudogene 10 11 6 0 1 3 7 5 3 ENSG00000240399 chr12 48054813 48055591 - AC004801.2 transcribed_processed_pseudogene 4 7 9 16 19 13 16 16 17 ENSG00000240401 chr2 55282350 55346049 + AC012358.3 antisense 7 8 14 18 14 16 25 15 13 ENSG00000240403 chr19 54850443 54867207 + KIR3DL2 protein_coding Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the 'framework' loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]. 3812 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0023029, GO:0005515, MHC class Ib protein binding, protein binding, GO:1901215, GO:0050776, GO:0006968, negative regulation of neuron death, regulation of immune response, cellular defense response, 0 0 0 0 0 0 0 0 0 ENSG00000240404 chr3 81612790 81613075 + AC017015.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240405 chr3 69999550 70518064 + SAMMSON lincRNA 101927152 0 0 0 0 0 0 0 0 0 ENSG00000240409 chr1 633535 633741 + MTATP8P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240411 chr5 82777797 82778586 + RPL5P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240412 chr5 58822503 58823714 + RPL5P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240416 chr7 129117513 129117827 - CYCSP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240418 chr19 16412684 16413576 + AC020917.1 processed_pseudogene 0 1 1 5 5 11 12 9 3 ENSG00000240419 chr16 7126293 7126639 - AC022206.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240423 chr3 107834586 107928907 + LINC00636 lincRNA 285205 0 0 0 0 0 0 0 0 0 ENSG00000240424 chr12 12568201 12568776 - AC092824.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240426 chr4 76401251 76401569 + AC096743.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240427 chr8 81627269 81627617 + RPS26P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240429 chr3 179259028 179261273 - LRRFIP1P1 processed_pseudogene 0 3 0 1 1 8 2 0 1 ENSG00000240432 chr21 30425265 30425968 - KRTAP13-3 protein_coding 337960 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000240435 chr16 68209442 68209778 + RPS12P27 processed_pseudogene 4 5 0 1 6 1 4 1 0 ENSG00000240436 chr5 62575951 62576271 - AC114982.1 processed_pseudogene 1 0 0 1 0 0 0 0 0 ENSG00000240438 chrY 18582063 18629077 - OFD1P5Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240439 chrX 25060649 25060939 - RN7SL91P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240440 chr2 207235299 207237875 - AC007879.4 lincRNA 6 1 5 3 8 12 6 9 9 ENSG00000240441 chr12 107719599 107720133 + AC007622.1 processed_pseudogene 0 1 1 0 0 0 0 1 0 ENSG00000240443 chr12 48487946 48488408 + RPS10P20 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240445 chr17 18670946 18672873 - FOXO3B processed_pseudogene 2310 GO:0005829, cytosol, GO:0043565, GO:0003700, sequence-specific DNA binding, DNA-binding transcription factor activity, GO:0006355, regulation of transcription, DNA-templated, 8 6 11 0 3 2 1 2 5 ENSG00000240449 chr7 150363777 150372590 - AC005586.1 antisense 24 29 27 33 36 38 39 33 19 ENSG00000240450 chrY 25482908 25486705 + CSPG4P1Y processed_transcript There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. 114758 0 0 0 0 0 0 0 0 0 ENSG00000240452 chr3 120722024 120722311 + MTCO1P29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240454 chr11 13685499 13685656 - RPL39P26 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000240457 chr14 102077180 102077472 - RN7SL472P misc_RNA 1 0 0 25 48 6 23 31 23 ENSG00000240458 chr3 166721458 166721610 + AC072046.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240459 chr4 112116510 112116903 - AC093663.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240463 chr14 34568689 34569129 - RPS19P3 processed_pseudogene 3 5 7 10 8 9 6 12 12 ENSG00000240470 chr15 90166233 90166526 + RN7SL346P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240471 chr3 119791829 119792553 + PHBP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240474 chr20 38872770 38873074 + RN7SL116P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240476 chr3 98981058 98983096 + LINC00973 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240477 chr3 150050729 150051456 + AC022494.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240478 chr3 182121884 182142137 + AC012081.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240480 chr17 7754320 7754976 + RPL29P2 transcribed_processed_pseudogene 118432 0 0 0 0 0 0 0 0 0 ENSG00000240481 chr12 24706788 24707083 + RN7SL38P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240484 chr15 92719393 92719740 + AC091544.1 processed_pseudogene 2 0 0 2 4 0 0 1 0 ENSG00000240486 chr8 5476548 5476966 + RPL23AP54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240487 chr3 114231398 114233021 - AC093010.1 processed_pseudogene 1 0 1 5 3 3 3 2 6 ENSG00000240489 chr3 155987304 155988176 + SETP14 processed_pseudogene 7 4 2 3 2 7 3 9 2 ENSG00000240490 chr1 19424384 19424671 + RN7SL277P misc_RNA 0 0 0 3 1 0 1 2 0 ENSG00000240494 chr17 28655557 28655983 + RPS12P28 processed_pseudogene 11 25 17 80 144 147 86 57 89 ENSG00000240497 chr3 171468084 171469633 + AC092919.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240498 chr9 21994778 22121097 + CDKN2B-AS1 antisense This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]. 100048912 GO:0005515, protein binding, GO:0030335, GO:0010629, GO:0010628, GO:0006342, positive regulation of cell migration, negative regulation of gene expression, positive regulation of gene expression, chromatin silencing, 0 4 1 0 1 8 0 0 0 ENSG00000240499 chr7 122328469 122440388 + AC004594.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000240502 chr1 230894141 230894427 + RN7SL837P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240505 chr17 16929816 16972118 - TNFRSF13B protein_coding The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. 23495 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0033209, GO:0030889, GO:0007166, GO:0002250, GO:0002244, GO:0001782, tumor necrosis factor-mediated signaling pathway, negative regulation of B cell proliferation, cell surface receptor signaling pathway, adaptive immune response, hematopoietic progenitor cell differentiation, B cell homeostasis, 0 1 3 11 1 10 4 4 0 ENSG00000240509 chr8 93957338 93957691 - RPL34P18 processed_pseudogene 8 3 1 8 5 5 1 4 13 ENSG00000240511 chr3 149099499 149099815 - MED28P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240513 chr14 30819714 30819914 + AL049830.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240518 chr5 140609085 140609400 + AC116353.1 processed_pseudogene 2 5 5 0 0 0 0 0 0 ENSG00000240519 chr8 26771790 26772140 + AC091675.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240520 chr1 84363706 84397831 - UOX transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240521 chr3 148850933 148960112 - AC092979.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000240522 chr19 21149648 21150438 - RPL7AP10 processed_pseudogene 16 2 11 19 18 6 21 7 2 ENSG00000240527 chr10 95833508 95873758 + AL365273.1 sense_intronic 63 77 72 50 64 79 44 42 40 ENSG00000240531 chr17 29716279 29716685 - RPL21P123 transcribed_processed_pseudogene 9 19 21 10 7 6 12 4 8 ENSG00000240533 chr12 6095699 6095970 - RN7SL69P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240534 chr8 52313154 52313500 - RPL34P17 processed_pseudogene 0 0 0 2 1 0 0 0 0 ENSG00000240535 chr5 55021299 55042844 - AC034238.1 processed_transcript 55 19 129 270 50 285 185 50 237 ENSG00000240540 chr8 79571153 79572335 - RPL3P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240541 chr3 149377778 149386583 + TM4SF1-AS1 antisense 100874091 0 0 0 0 0 0 0 0 0 ENSG00000240542 chr17 41189887 41190639 + KRTAP9-1 protein_coding 728318 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000240545 chr4 56794348 56794642 - RN7SL492P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240549 chr3 63860645 63861819 + THOC7-AS1 antisense 100874039 0 0 1 3 1 0 0 1 0 ENSG00000240553 chr1 23020147 23088058 - AL031428.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000240554 chr11 29725764 29726565 + RPL7AP58 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240562 chr3 127489553 127490787 + AC016968.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240563 chr1 62194831 62212328 + L1TD1 protein_coding 54596 GO:1990904, ribonucleoprotein complex, GO:0005515, GO:0003727, protein binding, single-stranded RNA binding, GO:0032197, transposition, RNA-mediated, 0 0 0 0 1 0 0 0 0 ENSG00000240566 chrY 24650808 24651534 + AC010153.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240567 chr3 161426427 161448242 + LINC02067 lincRNA 101243545 7 21 12 35 5 56 28 41 36 ENSG00000240568 chr3 68192398 68192580 + AC107626.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240571 chr7 130173718 130205361 + AC087071.2 antisense 6 2 3 8 2 8 6 5 18 ENSG00000240572 chr3 99326377 99326552 - AC107297.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240573 chr3 78087404 78092270 + AC117462.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240577 chr10 5631463 5631755 + RN7SL445P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240578 chr7 142641746 142642196 + TRBV22-1 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240579 chr7 127857852 127858488 - AC006529.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000240583 chr7 30911694 30925516 + AQP1 protein_coding This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]. 358 GO:0070062, GO:0070062, GO:0045177, GO:0042383, GO:0031965, GO:0031526, GO:0020005, GO:0016324, GO:0016323, GO:0016021, GO:0009925, GO:0005903, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, GO:0005634, extracellular exosome, extracellular exosome, apical part of cell, sarcolemma, nuclear membrane, brush border membrane, symbiont-containing vacuole membrane, apical plasma membrane, basolateral plasma membrane, integral component of membrane, basal plasma membrane, brush border, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, nucleus, GO:0042802, GO:0035379, GO:0035379, GO:0030184, GO:0022857, GO:0015250, GO:0015250, GO:0015250, GO:0015250, GO:0015168, GO:0015168, GO:0015079, GO:0008519, GO:0008519, GO:0005515, GO:0005372, GO:0005267, GO:0005223, identical protein binding, carbon dioxide transmembrane transporter activity, carbon dioxide transmembrane transporter activity, nitric oxide transmembrane transporter activity, transmembrane transporter activity, water channel activity, water channel activity, water channel activity, water channel activity, glycerol transmembrane transporter activity, glycerol transmembrane transporter activity, potassium ion transmembrane transporter activity, ammonium transmembrane transporter activity, ammonium transmembrane transporter activity, protein binding, water transmembrane transporter activity, potassium channel activity, intracellular cGMP-activated cation channel activity, GO:0085018, GO:0072488, GO:0071805, GO:0071732, GO:0071549, GO:0071474, GO:0071472, GO:0071456, GO:0071320, GO:0071320, GO:0071300, GO:0071288, GO:0071280, GO:0071260, GO:0071241, GO:0070301, GO:0050891, GO:0050829, GO:0048146, GO:0046878, GO:0045766, GO:0043154, GO:0043066, GO:0042476, GO:0035378, GO:0035378, GO:0035377, GO:0034644, GO:0033326, GO:0030950, GO:0030185, GO:0030157, GO:0021670, GO:0019934, GO:0019725, GO:0015793, GO:0015701, GO:0015696, GO:0015670, GO:0009992, GO:0006972, GO:0006884, GO:0006833, GO:0006833, GO:0006833, GO:0006833, GO:0006813, GO:0003097, GO:0003097, GO:0003091, maintenance of symbiont-containing vacuole by host, ammonium transmembrane transport, potassium ion transmembrane transport, cellular response to nitric oxide, cellular response to dexamethasone stimulus, cellular hyperosmotic response, cellular response to salt stress, cellular response to hypoxia, cellular response to cAMP, cellular response to cAMP, cellular response to retinoic acid, cellular response to mercury ion, cellular response to copper ion, cellular response to mechanical stimulus, cellular response to inorganic substance, cellular response to hydrogen peroxide, multicellular organismal water homeostasis, defense response to Gram-negative bacterium, positive regulation of fibroblast proliferation, positive regulation of saliva secretion, positive regulation of angiogenesis, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, odontogenesis, carbon dioxide transmembrane transport, carbon dioxide transmembrane transport, transepithelial water transport, cellular response to UV, cerebrospinal fluid secretion, establishment or maintenance of actin cytoskeleton polarity, nitric oxide transport, pancreatic juice secretion, lateral ventricle development, cGMP-mediated signaling, cellular homeostasis, glycerol transport, bicarbonate transport, ammonium transport, carbon dioxide transport, cellular water homeostasis, hyperosmotic response, cell volume homeostasis, water transport, water transport, water transport, water transport, potassium ion transport, renal water transport, renal water transport, renal water homeostasis, 0 0 0 0 0 0 0 0 1 ENSG00000240584 chr20 7633562 7633851 - RN7SL547P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240589 chr17 44409059 44409358 - RN7SL258P misc_RNA 0 0 1 0 2 0 4 0 0 ENSG00000240590 chr8 110105076 110105964 - RPSAP48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240591 chr22 31454251 31464204 + AL096701.3 antisense 47 60 40 26 17 21 40 32 15 ENSG00000240596 chr3 156215560 156227883 - KCNAB1-AS2 antisense 100874083 0 0 0 0 0 0 0 0 0 ENSG00000240601 chr3 154676588 154677119 - RPL9P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240602 chr3 151770428 151784894 + AADACP1 transcribed_unprocessed_pseudogene 201651 0 0 0 0 0 0 3 0 0 ENSG00000240606 chr6 122745280 122745529 + RN7SL564P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240611 chr5 133172218 133173053 - AC010307.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240613 chr9 15525782 15526081 - RN7SL98P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240616 chr19 12894133 12894880 + RPS6P25 processed_pseudogene 3 0 2 0 4 0 4 2 6 ENSG00000240621 chr7 144176740 144177142 + OR2AO1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240622 chr3 124151960 124153063 - RPL7P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240624 chr14 103282933 103283468 + AL138976.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240625 chr6 43036196 43036500 - RN7SL403P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240626 chr19 33927364 33927625 - RN7SL150P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240627 chr5 51275253 51275734 + AC026798.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240631 chr12 106910757 106911109 + RPL30P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240632 chr9 81913437 81919926 + SPATA31D5P transcribed_unprocessed_pseudogene 347127 0 0 0 0 0 0 0 0 0 ENSG00000240634 chr16 28813980 28814673 - AC145285.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000240637 chr4 114799331 114799629 + RN7SL808P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240639 chr20 43222206 43222509 + RN7SL666P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240641 chr6 51975673 51975959 + RN7SL580P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240647 chr22 31981147 31981427 - RN7SL305P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240651 chr7 63241590 63248321 - SEPT7P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240652 chr11 107908420 107908764 + AP001024.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240654 chr13 24307166 24322535 + C1QTNF9 protein_coding 338872 GO:0005581, GO:0005576, collagen trimer, extracellular region, GO:0042802, GO:0005515, GO:0005179, identical protein binding, protein binding, hormone activity, GO:0007165, signal transduction, 0 0 0 0 0 0 0 1 5 ENSG00000240661 chr3 120349449 120423826 + AC063952.1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240663 chr18 50206998 50207278 - RN7SL310P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240665 chr3 75395188 75395320 + LSP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240666 chr3 155158370 155183285 - MME-AS1 antisense 605 956 1079 221 717 443 332 546 458 ENSG00000240667 chr1 152018662 152022508 + NBPF18P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240668 chr3 138101478 138102917 - KRT8P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240669 chr4 152613875 152614333 - AC023424.1 processed_pseudogene 7 24 21 10 24 27 9 10 8 ENSG00000240671 chr2 88992409 88992931 - IGKV1-8 IG_V_gene 0 1 0 4 2 0 0 6 0 ENSG00000240673 chr19 20079818 20080539 - AC006539.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240674 chr4 165012366 165012845 - AC106872.2 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000240677 chr7 141811805 141812257 + MYL6P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240680 chr7 130823205 130823511 - AC016831.3 processed_pseudogene 1 0 0 0 0 0 1 0 2 ENSG00000240682 chr3 129127415 129161293 - ISY1 protein_coding 57461 GO:0071020, GO:0071014, GO:0071013, GO:0071013, GO:0071006, GO:0005654, GO:0005634, GO:0000974, post-spliceosomal complex, post-mRNA release spliceosomal complex, catalytic step 2 spliceosome, catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, nucleoplasm, nucleus, Prp19 complex, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0006283, GO:0000398, GO:0000398, GO:0000398, GO:0000389, GO:0000350, transcription-coupled nucleotide-excision repair, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA 3'-splice site recognition, generation of catalytic spliceosome for second transesterification step, 178 171 165 88 142 107 82 137 98 ENSG00000240687 chr2 9638772 9649439 + AC082651.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240692 chr1 69879592 69879895 + RN7SL538P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240694 chr8 26504686 26514092 - PNMA2 protein_coding 10687 GO:0005730, nucleolus, GO:0005515, protein binding, GO:0043065, positive regulation of apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000240695 chr3 136736500 136737229 - AC117382.1 processed_pseudogene 7 4 3 8 3 4 7 1 3 ENSG00000240698 chr11 108690289 108690956 - RPS2P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240704 chr3 170952850 170953897 - KLF7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240707 chr10 132965534 132976354 + LINC01168 lincRNA 399829 0 0 0 0 1 0 1 0 0 ENSG00000240708 chr3 55296200 55300738 + LINC02030 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240710 chr1 204603035 204616565 + AL512306.3 antisense 39 40 39 19 44 21 24 42 28 ENSG00000240713 chr19 22601485 22601707 + RN7SL860P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240718 chr7 6047721 6048023 - RN7SL851P misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000240720 chr7 92141643 92179531 - LRRD1 protein_coding 401387 GO:0046579, GO:0007165, positive regulation of Ras protein signal transduction, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000240721 chr12 87944885 87950819 + RPS4XP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240723 chr4 139100377 139100658 + RN7SL382P misc_RNA 6 9 7 7 1 0 2 2 3 ENSG00000240724 chr8 102503753 102504137 + RPS12P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240729 chr5 177264766 177265241 + AC146507.2 processed_pseudogene 6 1 3 3 10 14 6 5 11 ENSG00000240731 chr1 1317581 1318689 - AL139287.1 sense_intronic 18 24 25 21 39 25 27 20 31 ENSG00000240733 chr6 36450912 36451201 - RN7SL502P misc_RNA 3 3 4 2 3 0 1 1 0 ENSG00000240738 chr8 33859480 33860223 - AF279873.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240739 chr12 7994770 7995084 - AC006511.1 unprocessed_pseudogene 0 0 0 0 0 7 0 0 0 ENSG00000240747 chr3 42809483 42942792 + KRBOX1 protein_coding 100506243 GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000240750 chr1 28031884 28032180 - RN7SL559P misc_RNA 1 0 3 1 0 0 2 0 0 ENSG00000240751 chr3 113360267 113361319 + AC026348.1 processed_pseudogene 3 0 0 0 2 4 2 0 2 ENSG00000240752 chr3 78758974 78759374 + AC055731.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240755 chr21 14143581 14144158 + ERLEC1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240758 chr7 128455937 128469197 + AC010655.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000240759 chr12 42678873 42679124 - RPS27P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240760 chr16 55352721 55353088 - RPL31P56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240761 chr2 202773720 202774360 - AC098831.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240764 chr5 141489121 141512979 + PCDHGC5 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56097 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0050808, GO:0007156, GO:0007155, synapse organization, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 1 0 ENSG00000240766 chr3 111676736 111677433 - PLCXD2-AS1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000240767 chr13 46169458 46169748 - RN7SL288P misc_RNA 8 12 10 22 22 25 29 25 13 ENSG00000240770 chr21 17763315 17792523 - C21orf91-OT1 lincRNA 246312 0 1 3 0 1 3 7 1 0 ENSG00000240771 chr12 57610180 57619379 + ARHGEF25 protein_coding Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 115557 GO:0030017, GO:0030016, GO:0005886, GO:0005829, sarcomere, myofibril, plasma membrane, cytosol, GO:0005085, guanyl-nucleotide exchange factor activity, GO:0035023, GO:0007186, regulation of Rho protein signal transduction, G protein-coupled receptor signaling pathway, 1 0 2 3 0 3 0 0 12 ENSG00000240772 chr4 167400495 167400762 - RN7SL776P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240774 chr3 120484171 120484527 - AC126182.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240775 chr4 122840343 122840690 + AC021205.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240776 chr3 113850237 113850731 - AC079944.1 processed_pseudogene 2 1 0 0 0 0 0 0 0 ENSG00000240777 chr3 55610603 55613104 + AC025572.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240785 chr5 18049232 18049872 + RPL36AP21 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000240787 chr3 111570638 111571054 - AC092916.2 processed_pseudogene 0 1 0 5 0 1 7 2 3 ENSG00000240790 chr7 127644685 127652012 - AC073934.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000240791 chr9 92110575 92110868 + MTND4LP7 unprocessed_pseudogene 0 1 0 0 7 0 0 1 3 ENSG00000240792 chr3 163475067 163479365 + AC079910.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240793 chr16 48334471 48334854 - UBA52P8 processed_pseudogene 2 5 3 7 3 9 1 1 5 ENSG00000240796 chr3 106902173 106902523 + MTND2P14 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240801 chr11 2129121 2129964 - AC132217.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000240803 chr19 14213052 14213323 + RN7SL231P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240804 chr3 147590996 147591835 - NPM1P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240808 chr11 17137976 17138265 - AC126389.1 processed_pseudogene 2 1 2 0 0 1 0 2 0 ENSG00000240809 chr3 76434018 76435428 + AC026877.1 processed_pseudogene 4 2 3 2 2 0 1 1 1 ENSG00000240813 chr17 10745553 10746543 - AC015908.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240821 chr15 66379337 66379915 - RPL9P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240823 chr11 61444149 61444423 + RN7SL23P misc_RNA 4 3 3 9 6 4 1 1 2 ENSG00000240824 chr3 166160777 166161119 - MTND3P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240827 chr3 98620065 98620618 + AC021660.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240828 chr17 43079302 43079780 + RPL21P4 processed_pseudogene 0 2 2 1 0 0 3 2 0 ENSG00000240837 chr14 70610086 70610379 + RN7SL77P misc_RNA 0 0 0 2 0 0 0 0 0 ENSG00000240842 chr3 69564106 69571122 - AC099328.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240846 chr19 1307401 1307719 - RPS15P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240847 chr15 41191965 41192265 - RN7SL497P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240849 chr20 50118254 50153734 - TMEM189 protein_coding Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. 387521 GO:0016021, GO:0005789, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0050207, GO:0050207, GO:0050207, GO:0016491, GO:0005515, plasmanylethanolamine desaturase activity, plasmanylethanolamine desaturase activity, plasmanylethanolamine desaturase activity, oxidoreductase activity, protein binding, GO:0055114, GO:0008611, GO:0008611, GO:0008611, GO:0006631, oxidation-reduction process, ether lipid biosynthetic process, ether lipid biosynthetic process, ether lipid biosynthetic process, fatty acid metabolic process, 19 31 24 43 39 36 46 20 29 ENSG00000240853 chr9 131725168 131725467 - RN7SL328P misc_RNA 3 8 3 1 1 1 1 0 3 ENSG00000240854 chr3 132175402 132176711 + AC117409.1 processed_pseudogene 0 0 0 0 0 0 1 0 1 ENSG00000240857 chr2 18554723 18560680 - RDH14 protein_coding 57665 GO:0016020, GO:0005789, GO:0005783, GO:0005765, GO:0005634, membrane, endoplasmic reticulum membrane, endoplasmic reticulum, lysosomal membrane, nucleus, GO:0052650, GO:0016229, NADP-retinol dehydrogenase activity, steroid dehydrogenase activity, GO:0055114, GO:0042572, GO:0001649, oxidation-reduction process, retinol metabolic process, osteoblast differentiation, 9 3 7 4 6 12 12 2 11 ENSG00000240859 chr7 149571 155465 + AC093627.4 lincRNA 100507642 0 0 0 0 0 0 0 0 0 ENSG00000240861 chr16 74552251 74552746 + AC009153.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000240863 chr16 58199568 58199836 - RN7SL645P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240864 chr2 89099859 89100361 - IGKV1-16 IG_V_gene 0 0 0 4 0 0 1 2 5 ENSG00000240868 chr13 24315725 24321598 - C1QTNF9-AS1 antisense 0 0 0 0 0 0 0 0 5 ENSG00000240869 chr6 20421583 20421887 - RN7SL128P misc_RNA 2 10 5 4 8 20 19 13 20 ENSG00000240870 chr8 98782055 98782628 + RPL19P14 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000240871 chr17 41084150 41085141 + KRTAP4-7 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]. 100132476 0 0 0 0 0 0 0 0 0 ENSG00000240873 chr17 28116239 28116406 - RPS29P22 processed_pseudogene 0 2 0 2 0 0 0 0 5 ENSG00000240874 chr15 57555951 57556379 - AC025271.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240875 chr3 156747346 156817062 - LINC00886 lincRNA 730091 5 0 5 4 3 6 10 1 0 ENSG00000240877 chr7 149125690 149125986 - RN7SL521P misc_RNA 0 0 4 0 0 1 0 1 0 ENSG00000240881 chr11 23520322 23521202 + AC068472.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240882 chr3 120306726 120307952 + AC063952.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240888 chr3 143313067 143314429 - AC131210.1 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000240889 chr7 140695336 140697077 - NDUFB2-AS1 antisense 100134713 20 23 35 44 38 31 31 15 16 ENSG00000240890 chr3 132386522 132389074 + AC020633.1 processed_pseudogene 1 14 3 1 14 1 4 11 7 ENSG00000240891 chr3 111674676 111846447 + PLCXD2 protein_coding 257068 GO:0005634, nucleus, GO:0008081, phosphoric diester hydrolase activity, GO:0016042, GO:0007165, lipid catabolic process, signal transduction, 52 27 113 81 39 108 73 32 104 ENSG00000240893 chr3 112736447 112749319 - LINC02042 lincRNA 101929694 0 0 0 3 0 0 0 1 1 ENSG00000240895 chr3 110527482 110529582 - AC117430.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240898 chr17 3665220 3665702 + AC132942.1 processed_pseudogene 0 2 1 1 4 0 0 0 2 ENSG00000240902 chr3 87594838 87595376 + APOOP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240905 chr8 55980240 55980540 - RN7SL798P misc_RNA 17 26 36 35 95 84 61 58 71 ENSG00000240912 chr3 114103249 114103628 - AC092896.1 processed_pseudogene 1 0 0 0 0 0 2 0 0 ENSG00000240914 chr14 94800849 94801463 - RPL15P2 processed_pseudogene 0 0 0 1 1 1 0 2 4 ENSG00000240915 chr8 63013068 63014681 + AC120042.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000240919 chr8 53532908 53533704 + AC022034.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240922 chr3 116360024 116370090 + LSAMP-AS1 antisense 101926903 0 0 0 0 0 0 0 0 0 ENSG00000240925 chr12 120247460 120247791 + RPS20P31 processed_pseudogene 1 10 12 0 8 7 2 0 3 ENSG00000240927 chr15 101773238 101773513 - RN7SL209P misc_RNA 0 0 0 0 0 0 0 0 3 ENSG00000240929 chr1 143875171 143904650 - HIST2H2BB transcribed_unprocessed_pseudogene 48 18 23 10 9 0 7 9 2 ENSG00000240934 chr15 58200606 58201018 + AC066616.1 processed_pseudogene 0 0 0 0 0 4 0 1 3 ENSG00000240935 chr2 106382171 106393031 + PLGLA transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240936 chr6 6938606 6938897 - RN7SL554P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240940 chr10 62350006 62350297 + RN7SL591P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240950 chr3 142827096 142827728 - AC021074.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240951 chr3 89587886 89588570 - MTCO2P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240954 chr14 21750269 21751546 + RPL4P1 processed_pseudogene 0 0 0 2 0 0 1 2 0 ENSG00000240959 chr3 50876712 50877657 - ST13P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240960 chr2 9746704 9746869 + AC082651.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240961 chr6 91739609 91739897 + RN7SL415P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240963 chr1 244375100 244409592 - AL645465.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000240964 chr3 78938009 78938292 - RN7SL751P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240966 chr4 87386883 87387174 - RN7SL681P misc_RNA 4 7 1 0 0 0 0 0 0 ENSG00000240970 chr11 119003012 119003446 - RPL23AP64 processed_pseudogene 9 13 11 6 9 13 7 15 15 ENSG00000240972 chr22 23894004 23895227 + MIF protein_coding This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008]. 4282 GO:1904813, GO:0070062, GO:0034774, GO:0031982, GO:0009986, GO:0005886, GO:0005829, GO:0005737, GO:0005654, GO:0005615, GO:0005576, GO:0005576, GO:0005576, ficolin-1-rich granule lumen, extracellular exosome, secretory granule lumen, vesicle, cell surface, plasma membrane, cytosol, cytoplasm, nucleoplasm, extracellular space, extracellular region, extracellular region, extracellular region, GO:0050178, GO:0042802, GO:0042056, GO:0005515, GO:0005126, GO:0005126, GO:0005125, GO:0004167, GO:0002020, phenylpyruvate tautomerase activity, identical protein binding, chemoattractant activity, protein binding, cytokine receptor binding, cytokine receptor binding, cytokine activity, dopachrome isomerase activity, protease binding, GO:2000343, GO:1902166, GO:0090344, GO:0090238, GO:0071157, GO:0070374, GO:0070374, GO:0070207, GO:0061081, GO:0061078, GO:0050918, GO:0050900, GO:0050731, GO:0048146, GO:0045087, GO:0043518, GO:0043406, GO:0043312, GO:0043066, GO:0043030, GO:0042327, GO:0035722, GO:0033138, GO:0033033, GO:0032760, GO:0032269, GO:0031666, GO:0030890, GO:0030336, GO:0030330, GO:0019752, GO:0010760, GO:0010739, GO:0010629, GO:0007569, GO:0007166, GO:0006954, GO:0002906, GO:0001819, GO:0001516, positive regulation of chemokine (C-X-C motif) ligand 2 production, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, negative regulation of cell aging, positive regulation of arachidonic acid secretion, negative regulation of cell cycle arrest, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, protein homotrimerization, positive regulation of myeloid leukocyte cytokine production involved in immune response, positive regulation of prostaglandin secretion involved in immune response, positive chemotaxis, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of fibroblast proliferation, innate immune response, negative regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of MAP kinase activity, neutrophil degranulation, negative regulation of apoptotic process, regulation of macrophage activation, positive regulation of phosphorylation, interleukin-12-mediated signaling pathway, positive regulation of peptidyl-serine phosphorylation, negative regulation of myeloid cell apoptotic process, positive regulation of tumor necrosis factor production, negative regulation of cellular protein metabolic process, positive regulation of lipopolysaccharide-mediated signaling pathway, positive regulation of B cell proliferation, negative regulation of cell migration, DNA damage response, signal transduction by p53 class mediator, carboxylic acid metabolic process, negative regulation of macrophage chemotaxis, positive regulation of protein kinase A signaling, negative regulation of gene expression, cell aging, cell surface receptor signaling pathway, inflammatory response, negative regulation of mature B cell apoptotic process, positive regulation of cytokine production, prostaglandin biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000240973 chr7 115679345 115682618 - AC093714.1 lincRNA 100506489 0 0 0 0 0 0 0 0 0 ENSG00000240974 chr5 141588935 141589142 + RPS27AP10 processed_pseudogene 4 1 0 1 1 0 1 2 0 ENSG00000240975 chr11 39161453 39161967 + AC021723.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240977 chr2 139982684 139982986 + RN7SL283P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240979 chr9 79726069 79726321 + AL353813.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240980 chr2 9143166 9146106 + AC093904.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240983 chr18 46722975 46723223 + AC090311.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240990 chr7 27184507 27189298 + HOXA11-AS antisense This gene produces a long non-coding RNA in antisense to transcription of the homeobox A11 gene. This transcript may associate with chromatin factors such as Polycomb repressive complex and act as a sponge for microRNAs, thereby participating in the regulation of expression of target genes. High levels of this transcript may be associated with tumor progression. [provided by RefSeq, Dec 2017]. 221883 GO:0010629, negative regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000240991 chr12 133125479 133125952 + RPL23AP67 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240992 chr4 145269810 145270558 - RPS23P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240993 chr12 19176288 19176589 - RN7SL459P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000240995 chr17 49148339 49149111 - AC069454.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000240996 chr10 89694295 89697928 - AL157400.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000240997 chr6 87845650 87845947 + RN7SL183P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241002 chr4 112738672 112739106 + AC017007.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241003 chr8 94688228 94688610 + AC108860.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241007 chr7 152367519 152368661 + SEPT7P6 processed_pseudogene 7 10 5 8 4 17 7 9 3 ENSG00000241008 chr11 7783697 7784407 + AC044810.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241011 chr4 188106558 188106914 + AC108073.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241014 chr1 34975699 34978706 - AC114490.1 transcribed_unitary_pseudogene 653160 GO:0005887, integral component of plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0051482, GO:0035025, positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway, positive regulation of Rho protein signal transduction, 0 1 2 5 5 13 8 3 7 ENSG00000241015 chr19 53431984 53444670 + TPM3P9 transcribed_processed_pseudogene 147804 35 30 18 60 17 43 51 15 13 ENSG00000241018 chr3 96753185 96754671 + RCC2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241020 chr11 83213005 83213404 + AP000873.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241022 chr3 75084155 75085237 + NIPA2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241026 chr8 22389865 22390655 - AC105910.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241030 chr12 120522664 120523443 - RPL29P24 processed_pseudogene 0 0 0 1 0 0 2 0 0 ENSG00000241032 chr8 37908738 37909037 + RN7SL709P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241035 chr14 21398925 21399282 + AL161747.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241037 chr4 122087508 122087811 - RN7SL335P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241042 chr1 59054397 59056049 - AL592431.2 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000241045 chr12 76721534 76722286 + RPL7P43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241048 chr3 150202174 150225190 - AC117386.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241052 chr14 35144021 35144480 - RPL23AP70 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241054 chr20 20094401 20095684 - AL035454.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241057 chr7 43961590 43973323 - AC004951.3 transcribed_unprocessed_pseudogene 0 1 5 0 6 0 2 3 0 ENSG00000241058 chr10 18545561 18659285 - NSUN6 protein_coding 221078 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0016428, GO:0016428, GO:0000049, tRNA (cytosine-5-)-methyltransferase activity, tRNA (cytosine-5-)-methyltransferase activity, tRNA binding, GO:0030488, GO:0006400, GO:0002946, GO:0001510, tRNA methylation, tRNA modification, tRNA C5-cytosine methylation, RNA methylation, 18 33 50 96 38 107 94 38 99 ENSG00000241059 chr5 91355380 91356026 + AC008799.2 antisense 5 1 0 2 3 0 6 1 0 ENSG00000241061 chr15 24908932 24909825 - RPL5P1 processed_pseudogene 0 1 0 3 1 0 3 2 0 ENSG00000241064 chr3 15506623 15506905 - RN7SL110P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241067 chr16 16094192 16095209 - RPL17P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241069 chr19 53386233 53386388 + AC125388.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241073 chr1 100057990 100084471 - AC093019.2 antisense 1 0 0 0 0 0 0 0 0 ENSG00000241074 chr2 168451324 168451606 + RN7SL813P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241081 chr14 76886377 76886750 - RPL22P2 processed_pseudogene 2 0 0 1 1 0 1 0 0 ENSG00000241082 chr11 62935982 62936234 - RN7SL259P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241084 chr9 129259062 129261581 + AL161785.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241088 chr18 62415678 62416227 + RPL17P44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241095 chr3 82806515 82808021 - CYP51A1P1 processed_pseudogene 8 4 2 2 0 2 0 4 3 ENSG00000241097 chr11 74738478 74738796 - AP001324.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241098 chr3 182446970 182486364 - LINC01994 lincRNA 401103 0 0 2 0 0 0 0 0 0 ENSG00000241101 chr3 64103470 64106056 + PRICKLE2-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241102 chr7 129095301 129095811 - AC011005.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241103 chr4 94369833 94370163 + AC109925.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241104 chr19 43211791 43248646 - CEACAMP10 transcribed_processed_pseudogene 284344 0 0 0 0 0 0 0 0 0 ENSG00000241105 chr8 70506251 70506818 - AC022730.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241106 chr6 32812763 32820466 - HLA-DOB protein_coding HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]. 3112 GO:0042613, GO:0016021, GO:0010008, GO:0005765, GO:0005764, MHC class II protein complex, integral component of membrane, endosome membrane, lysosomal membrane, lysosome, GO:0032395, GO:0023026, MHC class II receptor activity, MHC class II protein complex binding, GO:0019886, GO:0002587, GO:0002250, antigen processing and presentation of exogenous peptide antigen via MHC class II, negative regulation of antigen processing and presentation of peptide antigen via MHC class II, adaptive immune response, 0 0 0 0 0 0 0 0 0 ENSG00000241111 chr3 64067964 64103131 + PRICKLE2-AS1 antisense 100652759 0 0 0 0 0 0 0 0 0 ENSG00000241112 chr5 149545383 149545810 - RPL29P14 processed_pseudogene 10 13 9 5 14 10 12 4 17 ENSG00000241114 chr2 54079974 54080280 - AC008280.2 processed_pseudogene 1 4 4 3 2 2 1 0 1 ENSG00000241119 chr2 233671853 233773300 + UGT1A9 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenols. [provided by RefSeq, Jul 2008]. 54600 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042803, GO:0019899, GO:0015020, GO:0001972, protein homodimerization activity, enzyme binding, glucuronosyltransferase activity, retinoic acid binding, GO:0052697, GO:0052697, GO:0052696, GO:0052696, GO:0052695, GO:0051552, GO:0042573, GO:0019216, GO:0006805, xenobiotic glucuronidation, xenobiotic glucuronidation, flavonoid glucuronidation, flavonoid glucuronidation, cellular glucuronidation, flavone metabolic process, retinoic acid metabolic process, regulation of lipid metabolic process, xenobiotic metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000241120 chr3 167694355 167694642 - HMGN1P8 processed_pseudogene 1 4 2 10 8 4 6 1 4 ENSG00000241123 chr21 44579455 44580604 - KRTAP10-5 protein_coding This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]. 386680 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 1 0 0 ENSG00000241127 chr7 39566376 39610320 + YAE1 protein_coding 57002 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:0106035, protein maturation by [4Fe-4S] cluster transfer, 1 3 6 6 1 4 8 0 11 ENSG00000241128 chr1 247722957 247724043 - OR14A2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 388761 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000241129 chr12 124935455 124935895 - RPL22P19 transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000241130 chr15 50798670 50798951 + AC012100.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241131 chr3 148078159 148088029 + LINC02032 lincRNA 100507461 0 0 0 0 0 0 0 0 0 ENSG00000241134 chr7 150749736 150750094 + BET1P1 processed_pseudogene 0 0 0 0 0 2 1 0 0 ENSG00000241135 chr3 157089881 157101135 + LINC00881 lincRNA 1 1 0 1 0 0 3 0 0 ENSG00000241136 chr7 143782667 143784284 + PAICSP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241143 chr3 150150538 150150944 + RPL32P9 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241144 chr4 102348392 102348691 - RN7SL728P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241146 chr12 52885429 52886385 + RPL7P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241149 chr7 63998874 64016130 + AC115220.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000241151 chr3 151637174 151657966 + LINC02066 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241152 chr9 17053901 17054204 + RN7SL720P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241155 chr3 119314293 119322760 - ARHGAP31-AS1 antisense 100874246 2 0 3 2 2 0 3 1 21 ENSG00000241156 chr3 116582552 116582830 - RN7SL582P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241157 chr17 60245288 60245647 - AC104763.1 processed_pseudogene 17 52 55 140 255 294 104 131 215 ENSG00000241158 chr3 64561322 64592757 + ADAMTS9-AS1 processed_transcript 101929335 0 0 0 0 0 0 0 0 0 ENSG00000241159 chr2 70965584 70965867 + RN7SL160P misc_RNA 0 0 0 0 0 0 3 0 0 ENSG00000241162 chr6 110439996 110440303 - RN7SL617P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241163 chr3 72035300 72279503 - LINC00877 lincRNA 285286 631 641 1295 318 549 902 513 562 905 ENSG00000241168 chr3 163026396 163232149 + AC128685.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241169 chr1 27457198 27459582 + FO393419.2 lincRNA 2 0 0 0 2 1 0 2 3 ENSG00000241170 chr11 74876286 74920022 + AP001992.1 transcribed_processed_pseudogene 82 58 70 108 124 148 165 47 119 ENSG00000241172 chr19 18957957 18958258 - RN7SL70P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241174 chr9 69884363 69884654 - RN7SL570P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241175 chr15 50244628 50244931 - RN7SL494P misc_RNA 0 0 2 1 0 0 0 0 0 ENSG00000241179 chr5 134804778 134805132 - AC010301.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241180 chr1 914171 914971 + AL645608.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241183 chr16 70079129 70079624 - AC009022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241185 chr17 11998353 12021508 - AC005410.1 transcribed_processed_pseudogene 2 1 0 6 0 1 1 4 1 ENSG00000241186 chr3 46574534 46582463 + TDGF1 protein_coding This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. 6997 GO:0045121, GO:0031225, GO:0019897, GO:0016324, GO:0009986, GO:0009986, GO:0005886, GO:0005615, GO:0005576, membrane raft, anchored component of membrane, extrinsic component of plasma membrane, apical plasma membrane, cell surface, cell surface, plasma membrane, extracellular space, extracellular region, GO:0070697, GO:0038100, GO:0008083, GO:0005515, GO:0005102, GO:0005102, activin receptor binding, nodal binding, growth factor activity, protein binding, signaling receptor binding, signaling receptor binding, GO:0071364, GO:0071356, GO:0071354, GO:0071346, GO:0050731, GO:0048856, GO:0044344, GO:0043066, GO:0038092, GO:0035729, GO:0035019, GO:0030879, GO:0030335, GO:0030154, GO:0018105, GO:0010595, GO:0009966, GO:0009952, GO:0009792, GO:0008595, GO:0008284, GO:0008284, GO:0007507, GO:0007507, GO:0007368, GO:0007173, GO:0002042, GO:0001763, GO:0001568, GO:0000187, cellular response to epidermal growth factor stimulus, cellular response to tumor necrosis factor, cellular response to interleukin-6, cellular response to interferon-gamma, positive regulation of peptidyl-tyrosine phosphorylation, anatomical structure development, cellular response to fibroblast growth factor stimulus, negative regulation of apoptotic process, nodal signaling pathway, cellular response to hepatocyte growth factor stimulus, somatic stem cell population maintenance, mammary gland development, positive regulation of cell migration, cell differentiation, peptidyl-serine phosphorylation, positive regulation of endothelial cell migration, regulation of signal transduction, anterior/posterior pattern specification, embryo development ending in birth or egg hatching, anterior/posterior axis specification, embryo, positive regulation of cell population proliferation, positive regulation of cell population proliferation, heart development, heart development, determination of left/right symmetry, epidermal growth factor receptor signaling pathway, cell migration involved in sprouting angiogenesis, morphogenesis of a branching structure, blood vessel development, activation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000241187 chr5 154729231 154729694 + AC008379.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241188 chr1 26814822 26815112 + RN7SL165P misc_RNA 0 0 0 3 0 1 0 0 0 ENSG00000241198 chrX 131134086 131134390 - RN7SL191P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241200 chrY 7990987 7991806 - ZNF736P7Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241202 chr3 147386967 147387453 + ZIC4-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241203 chr3 167958744 167959082 + HMGN2P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241204 chr8 70424125 70424576 - AC022730.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000241207 chrX 48276704 48277578 - AC245047.8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241211 chr3 159765387 159768612 - IQCJ-SCHIP1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241213 chr3 117678693 117690932 - LINC02024 lincRNA 105374057 0 0 0 0 0 0 0 0 0 ENSG00000241216 chr6 6347081 6347381 - SNAPC5P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241217 chr12 56670450 56670746 - RN7SL809P misc_RNA 4 5 15 7 0 10 4 4 6 ENSG00000241218 chr3 107327830 107329197 - AC063944.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241219 chr3 113050912 113063443 - AC078785.2 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000241220 chr3 153357107 153374186 + AC078788.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241221 chr2 202617695 202617987 + MTND4LP17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241223 chr18 3571215 3571511 - RN7SL39P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241224 chr3 109118252 109150514 + C3orf85 protein_coding 401081 0 0 0 0 0 0 0 0 0 ENSG00000241225 chr17 22528853 22528921 - NMTRS-TGA3-1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241226 chr19 45651510 45651805 + RN7SL836P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241227 chr3 5252926 5253223 - RN7SL553P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241228 chr11 35997226 35997675 - RPL12P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241229 chr20 44007248 44007537 + RN7SL443P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241230 chr5 54048007 54048308 - RN7SL801P misc_RNA 1 2 0 0 0 0 0 0 0 ENSG00000241231 chr3 181421058 181442486 - AC022294.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241233 chr11 71538025 71539207 + KRTAP5-8 protein_coding 57830 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0030280, GO:0005515, structural constituent of skin epidermis, protein binding, GO:0031424, GO:0008150, keratinization, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000241241 chr17 41101502 41102209 - KRTAP4-16 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000241243 chr5 87294189 87294473 - RN7SL629P misc_RNA 0 1 0 0 1 0 1 0 0 ENSG00000241244 chr2 90100236 90100738 + IGKV1D-16 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000241246 chr9 124607159 124607458 + RN7SL302P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241248 chrX 140085855 140086150 + RN7SL727P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241250 chr4 56710060 56710614 + RPL17P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241251 chr12 43560784 43561297 - AC090525.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241255 chr11 33237008 33237409 + AL136126.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241257 chr3 109364047 109364234 - AC124945.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241258 chr7 66114604 66154568 + CRCP protein_coding This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 27297 GO:0009360, GO:0005886, GO:0005829, GO:0005666, GO:0005654, GO:0001669, DNA polymerase III complex, plasma membrane, cytosol, RNA polymerase III complex, nucleoplasm, acrosomal vesicle, GO:0005515, GO:0003899, GO:0001635, GO:0000166, protein binding, DNA-directed 5'-3' RNA polymerase activity, calcitonin gene-related peptide receptor activity, nucleotide binding, GO:0051607, GO:0045087, GO:0032481, GO:0007218, GO:0006384, GO:0006383, defense response to virus, innate immune response, positive regulation of type I interferon production, neuropeptide signaling pathway, transcription initiation from RNA polymerase III promoter, transcription by RNA polymerase III, 291 314 307 185 322 299 147 251 194 ENSG00000241261 chr4 61211652 61212203 + RPL17P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241269 chr7 5419827 5420767 + AC093620.1 antisense 7 12 10 2 5 10 2 4 4 ENSG00000241278 chr3 125848223 125909372 + ENPP7P4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241280 chr3 101960358 101997926 + AC106712.1 lincRNA 0 0 2 0 0 0 0 0 1 ENSG00000241281 chr4 147425974 147426351 - AC010683.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241282 chr19 22699352 22699685 + RPL34P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241286 chr12 110841538 110842387 - RPL29P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241288 chr3 125827238 125916384 - AC092902.2 processed_transcript 101927056 0 1 3 1 2 3 1 1 0 ENSG00000241291 chr5 146656401 146656695 - RN7SL791P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241293 chr3 87051192 87052738 - PPATP1 processed_pseudogene 0 0 0 0 1 0 3 0 0 ENSG00000241294 chr2 89176328 89177160 - IGKV2-24 IG_V_gene 0 2 0 1 3 1 0 1 0 ENSG00000241295 chr3 114684580 114687609 + ZBTB20-AS2 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000241305 chr3 99215224 99216266 - ACTG1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241307 chr3 155760617 155761217 + AC104472.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241313 chr3 149657020 149661364 + WWTR1-AS1 antisense 100128025 0 0 1 0 0 0 0 0 0 ENSG00000241316 chr3 67654697 67947713 + SUCLG2-AS1 lincRNA 101927111 1 0 0 0 0 1 4 0 1 ENSG00000241317 chr10 79504073 79506281 - AL133481.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241318 chr1 91534666 91535593 - WDR82P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241319 chr3 81612238 81612805 - SETP6 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000241322 chr17 15565483 15619512 - CDRT1 protein_coding Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. 374286 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 1 0 0 0 0 0 0 ENSG00000241324 chr7 124337380 124349860 - AC004930.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241326 chr1 9983141 9984568 + AL603962.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000241328 chr3 86481943 86496996 + LINC02070 lincRNA 101927494 0 0 0 0 0 0 0 0 0 ENSG00000241333 chr22 37669464 37669739 - RN7SL385P misc_RNA 2 0 0 2 0 5 0 0 4 ENSG00000241334 chr16 68477237 68477570 - RPL35AP33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241336 chr3 155240945 155243144 + LINC01487 lincRNA 101928190 0 0 0 0 0 0 0 0 0 ENSG00000241343 chrX 101390824 101396154 + RPL36A protein_coding Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. Although this gene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This gene and the human gene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct genes. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Naturally occurring read-through transcription occurs between this locus and the heterogeneous nuclear ribonucleoprotein H2 (H') gene. [provided by RefSeq, Jan 2011]. 6173 GO:0042788, GO:0022625, GO:0022625, GO:0022625, GO:0005886, GO:0005840, GO:0005829, GO:0005829, GO:0005783, polysomal ribosome, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, plasma membrane, ribosome, cytosol, cytosol, endoplasmic reticulum, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 14 16 28 528 1664 714 473 859 453 ENSG00000241344 chr4 62248294 62248770 + RPL21P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241345 chr7 123994622 124027659 + AC004690.2 antisense 105375483 0 0 0 0 0 0 0 0 0 ENSG00000241346 chr3 125816082 125816286 - SNRPCP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241347 chr1 161735808 161736102 + RN7SL466P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241350 chr7 77011551 77015853 + PMS2P11 transcribed_unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000241351 chr2 89027171 89027731 - IGKV3-11 IG_V_gene 1 1 3 2 13 6 5 7 1 ENSG00000241352 chr12 12850982 12851740 + AC007688.1 processed_pseudogene 1 0 0 5 0 1 1 1 0 ENSG00000241353 chr13 46437394 46437988 - PPP1R2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241354 chr14 60602146 60602533 - AL049874.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241356 chr11 56819573 56820516 - OR5G3 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241357 chr7 100435257 100436510 + AC092849.2 antisense 40 55 37 308 424 371 258 164 179 ENSG00000241358 chr3 146391363 146416603 - AC069528.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241359 chr3 63423596 63550051 - SYNPR-AS1 antisense 100874016 0 0 0 0 0 0 0 0 0 ENSG00000241360 chr22 37658727 37666934 + PDXP protein_coding Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008]. 57026 GO:0070938, GO:0032587, GO:0032154, GO:0031258, GO:0030496, GO:0030027, GO:0015629, GO:0005911, GO:0005886, GO:0005829, GO:0005737, contractile ring, ruffle membrane, cleavage furrow, lamellipodium membrane, midbody, lamellipodium, actin cytoskeleton, cell-cell junction, plasma membrane, cytosol, cytoplasm, GO:0043136, GO:0042803, GO:0033883, GO:0033883, GO:0031072, GO:0016791, GO:0005515, GO:0004721, GO:0004647, GO:0000287, glycerol-3-phosphatase activity, protein homodimerization activity, pyridoxal phosphatase activity, pyridoxal phosphatase activity, heat shock protein binding, phosphatase activity, protein binding, phosphoprotein phosphatase activity, phosphoserine phosphatase activity, magnesium ion binding, GO:0071318, GO:0032465, GO:0032361, GO:0031247, GO:0031247, GO:0030836, GO:0016311, GO:0007088, GO:0006650, GO:0006470, GO:0006114, cellular response to ATP, regulation of cytokinesis, pyridoxal phosphate catabolic process, actin rod assembly, actin rod assembly, positive regulation of actin filament depolymerization, dephosphorylation, regulation of mitotic nuclear division, glycerophospholipid metabolic process, protein dephosphorylation, glycerol biosynthetic process, 3 1 2 3 0 2 0 0 3 ENSG00000241361 chr1 108272943 108337853 + SLC25A24P1 transcribed_unprocessed_pseudogene 2 0 0 9 0 0 9 0 0 ENSG00000241362 chr15 89687937 89688243 - RPL36AP43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241367 chr3 82319172 82320279 - RPL7AP23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241369 chr3 163127923 163361563 - LINC01192 lincRNA 647107 0 0 0 0 0 0 0 0 0 ENSG00000241370 chr6 30345131 30346884 + RPP21 protein_coding RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009]. 79897 GO:0030681, GO:0005655, GO:0005654, multimeric ribonuclease P complex, nucleolar ribonuclease P complex, nucleoplasm, GO:0046872, GO:0033204, GO:0004526, GO:0004526, metal ion binding, ribonuclease P RNA binding, ribonuclease P activity, ribonuclease P activity, GO:0090502, GO:0042493, GO:0008033, GO:0001682, GO:0001682, RNA phosphodiester bond hydrolysis, endonucleolytic, response to drug, tRNA processing, tRNA 5'-leader removal, tRNA 5'-leader removal, 0 0 0 0 0 0 0 0 0 ENSG00000241383 chr3 169003074 169005466 + LINC01997 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241385 chr8 109899246 109899762 - AC023245.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241388 chr12 120941728 120980965 - HNF1A-AS1 processed_transcript 283460 0 0 0 0 0 0 0 0 0 ENSG00000241391 chr6 149291352 149291646 + RN7SL234P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241392 chr4 131720260 131720543 - RN7SL205P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241395 chr1 211792111 211792406 - RN7SL344P misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000241397 chr3 116552473 116568264 + LINC00903 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241399 chr2 159768630 159798255 - CD302 protein_coding CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008]. 9936 GO:0030175, GO:0016021, GO:0016020, GO:0009897, GO:0005938, GO:0005902, filopodium, integral component of membrane, membrane, external side of plasma membrane, cell cortex, microvillus, GO:0038023, GO:0030246, GO:0005515, signaling receptor activity, carbohydrate binding, protein binding, GO:0006909, phagocytosis, 1307 1438 1658 289 795 506 446 800 518 ENSG00000241400 chr3 141258418 141258779 + AC022215.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241404 chr6 32164583 32168281 + EGFL8 protein_coding 80864 GO:0009986, GO:0005576, cell surface, extracellular region, GO:0005515, GO:0005509, GO:0005102, protein binding, calcium ion binding, signaling receptor binding, GO:0048856, GO:0001701, anatomical structure development, in utero embryonic development, 0 1 0 0 0 0 0 0 0 ENSG00000241406 chr13 41807677 41807973 + RN7SL515P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241409 chr2 232760146 232767949 - AC064852.1 3prime_overlapping_ncRNA 24 31 30 5 13 8 9 5 14 ENSG00000241411 chr4 134952259 134952889 - AC104619.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000241413 chr12 109866214 109866509 - RN7SL441P misc_RNA 3 4 1 7 2 1 8 3 5 ENSG00000241416 chr3 170495627 170496636 + KRT8P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241418 chrX 131795657 131796167 - MCRIP2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241420 chr7 33045798 33046090 - RN7SL505P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000241423 chr12 58244378 58244865 + RPL21P103 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241429 chr3 138825063 138826329 + EEF1A1P25 processed_pseudogene 1 1 0 0 4 1 1 0 0 ENSG00000241431 chr8 56588385 56588787 + RPL37P6 transcribed_processed_pseudogene 2 1 4 7 3 1 1 4 3 ENSG00000241434 chr19 53495887 53496037 + AC022137.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241438 chr3 136155549 136155996 + TDGF1P6 processed_pseudogene 0 0 1 0 0 6 0 0 1 ENSG00000241439 chr3 125958556 125958817 + AC092903.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241449 chr7 150040521 150076655 + AC092666.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241451 chr12 22722229 22722469 + RPS27P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241456 chr7 151427683 151439124 + AC005996.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241457 chr3 146589602 146590325 + PLSCR5-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241458 chr5 138473744 138474361 + RPL7P19 processed_pseudogene 0 2 0 15 7 12 13 0 7 ENSG00000241461 chr3 49083233 49083532 + RN7SL182P misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000241462 chr17 58897776 58899692 + AC100832.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241464 chr19 18285343 18285495 - RPL39P38 processed_pseudogene 2 0 1 0 2 5 0 0 0 ENSG00000241468 chr7 99448475 99466331 - ATP5MF protein_coding Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]. 9551 GO:0016021, GO:0005753, GO:0005753, GO:0005753, GO:0005743, GO:0005739, GO:0005634, GO:0000276, integral component of membrane, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, nucleus, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0046933, GO:0046933, proton-transporting ATP synthase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, GO:1902600, GO:0042776, GO:0042776, GO:0042776, GO:0042407, GO:0006754, proton transmembrane transport, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP biosynthetic process, 82 98 106 72 116 86 100 76 82 ENSG00000241469 chr3 107840228 107882000 - LINC00635 lincRNA 151658 0 0 0 0 0 0 0 0 0 ENSG00000241472 chr3 62260865 62369330 - PTPRG-AS1 processed_transcript 100506994 0 0 0 1 0 0 0 0 0 ENSG00000241473 chr3 180820544 180821612 + AC108734.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241475 chr1 234660271 234667104 + AL160408.4 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000241476 chrX 52696896 52707189 - SSX2 protein_coding The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013]. 6757 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000241478 chr3 137880295 137882237 + HSPA8P9 processed_pseudogene 0 0 1 0 0 1 0 0 0 ENSG00000241479 chr3 169447867 169477052 + AC074033.1 antisense 105374205 1 0 0 0 0 0 0 0 0 ENSG00000241484 chr22 44752558 44862788 + ARHGAP8 protein_coding This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]. 23779 GO:0005829, cytosol, GO:0005515, GO:0005096, protein binding, GTPase activator activity, GO:0070374, GO:0051056, GO:0043547, GO:0007165, positive regulation of ERK1 and ERK2 cascade, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000241487 chr14 73040619 73040914 - RN7SL586P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241489 chrX 149482543 149533935 - AC244197.3 protein_coding 29 58 57 13 14 31 24 12 30 ENSG00000241490 chr3 114214313 114236204 + AC093010.2 antisense 6 2 10 20 3 13 15 3 6 ENSG00000241493 chr7 128669087 128669892 - AC018638.3 processed_pseudogene 3 2 5 2 4 16 2 0 6 ENSG00000241494 chr14 101677943 101678380 + AL355032.1 processed_pseudogene 8 8 15 28 14 27 17 9 34 ENSG00000241499 chr14 93244010 93244323 + AL132838.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241505 chr1 190480379 190494297 + AL391645.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241506 chr3 68635705 68637024 + PSMC1P1 processed_pseudogene 14 19 32 32 17 43 16 17 45 ENSG00000241511 chr8 30117384 30117779 - RPS15AP24 processed_pseudogene 0 1 0 3 0 0 0 0 0 ENSG00000241520 chr2 216483032 216487196 - AC098820.3 antisense 0 0 1 0 1 0 0 0 0 ENSG00000241524 chr2 60831664 60831929 - RN7SL632P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241525 chr17 404468 414023 - AC141424.1 antisense 105371430 15 17 9 9 2 5 6 4 6 ENSG00000241526 chr3 141724425 141724526 + AC112771.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241527 chr22 19031564 19034564 - CA15P1 unitary_pseudogene 50 79 28 17 63 12 22 37 13 ENSG00000241529 chr3 113632704 113632998 + RN7SL767P misc_RNA 2 0 0 0 3 0 0 0 0 ENSG00000241532 chr3 75653561 75654773 - AGGF1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241535 chr3 88095408 88095968 - CBX5P1 processed_pseudogene 2 0 0 0 3 0 0 4 0 ENSG00000241537 chr3 72772539 72773471 + AC134050.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241539 chr7 6924078 6924513 - AC079804.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241542 chr14 67705954 67706252 + RN7SL369P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241544 chr3 157081841 157088547 + LINC02029 lincRNA 105374177 0 2 0 1 1 0 3 1 0 ENSG00000241546 chr3 120041190 120041537 + AC092910.2 processed_pseudogene 0 0 1 0 0 2 1 2 0 ENSG00000241547 chr1 27325329 27325796 + ACTG1P20 processed_pseudogene 2 5 4 4 8 5 3 6 9 ENSG00000241549 chr6 26871484 26956554 - GUSBP2 transcribed_unprocessed_pseudogene 387036 0 0 0 0 0 1 3 1 12 ENSG00000241550 chr8 80204606 80204902 + RN7SL41P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241552 chr5 18547312 18547605 + RN7SL58P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241553 chr3 9792495 9807726 + ARPC4 protein_coding This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]. 10093 GO:0070062, GO:0042995, GO:0035861, GO:0005885, GO:0005885, GO:0005829, GO:0005634, extracellular exosome, cell projection, site of double-strand break, Arp2/3 protein complex, Arp2/3 protein complex, cytosol, nucleus, GO:0051015, GO:0051015, GO:0030674, GO:0019899, GO:0005515, GO:0005200, actin filament binding, actin filament binding, protein-macromolecule adaptor activity, enzyme binding, protein binding, structural constituent of cytoskeleton, GO:0061024, GO:0048013, GO:0045010, GO:0038096, GO:0034314, GO:0030041, membrane organization, ephrin receptor signaling pathway, actin nucleation, Fc-gamma receptor signaling pathway involved in phagocytosis, Arp2/3 complex-mediated actin nucleation, actin filament polymerization, 1534 1451 1832 702 1305 1052 919 1125 985 ENSG00000241556 chr12 95467397 95467861 - AC018475.1 processed_pseudogene 0 1 0 1 0 1 3 1 0 ENSG00000241560 chr3 114351811 114388978 + ZBTB20-AS1 antisense 100131117 2 2 2 2 5 13 4 2 7 ENSG00000241562 chr15 99551382 99552117 - RPL7P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241563 chr1 10449719 10451902 + CORT protein_coding This gene encodes a neuropeptide that is structurally similar to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. The preproprotein undergoes further processing into multiple mature products. Read-through transcripts exist between this gene and the upstream APITD1 (apoptosis-inducing, TAF9-like domain 1) gene, as represented in GeneID:100526739. [provided by RefSeq, Nov 2010]. 1325 GO:0071821, GO:0045202, GO:0043240, GO:0005615, GO:0005576, FANCM-MHF complex, synapse, Fanconi anaemia nuclear complex, extracellular space, extracellular region, GO:0005184, GO:0003682, GO:0001664, neuropeptide hormone activity, chromatin binding, G protein-coupled receptor binding, GO:0031297, GO:0007268, GO:0007193, GO:0007186, GO:0000712, replication fork processing, chemical synaptic transmission, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, resolution of meiotic recombination intermediates, 0 0 0 0 0 0 1 0 0 ENSG00000241566 chr2 90004797 90005629 + IGKV2D-24 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000241568 chr9 35049271 35049563 + RN7SL338P misc_RNA 1 2 1 0 4 4 0 6 8 ENSG00000241570 chr3 142960650 143001559 + PAQR9-AS1 antisense 101927832 0 0 0 0 0 1 0 0 5 ENSG00000241571 chr9 62686912 62688190 + ATP5F1AP7 processed_pseudogene 0 1 0 0 0 0 0 2 0 ENSG00000241572 chr3 64099273 64101122 + PRICKLE2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241573 chr7 129096027 129096735 - AC011005.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241577 chr10 48883955 48935213 - AC060234.3 sense_overlapping 0 0 1 0 5 0 1 2 6 ENSG00000241582 chr14 34694170 34694644 + RPL23AP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241587 chr3 66323855 66324152 + RN7SL482P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241588 chr15 99791209 99791410 + RN7SL484P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241590 chr12 118737964 118738511 - RPL17P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241592 chr3 142960372 142960543 + AC021074.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241593 chr3 81246579 81297345 - AC099542.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241595 chr17 41249687 41250653 + KRTAP9-4 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 85280 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000241596 chr3 115658533 115661279 + AC092468.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000241597 chr5 98954394 98954972 + AC022121.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000241598 chr11 1620958 1622138 - KRTAP5-4 protein_coding 387267 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000241599 chr1 160446 161525 + AL627309.4 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000241604 chr19 29233090 29233385 - RN7SL340P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241607 chrX 37441523 37442068 + AC245096.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241612 chr4 19813749 19814231 + AC114728.1 processed_pseudogene 0 1 0 5 0 1 2 0 2 ENSG00000241613 chr13 53258077 53258372 + RN7SL618P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241621 chr10 30364410 30374386 - GOLGA2P6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241622 chr3 75658534 75659014 + RARRES2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241625 chr2 62491178 62491468 + RN7SL18P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241627 chr3 148985868 148987668 - UBQLN4P1 processed_pseudogene 2 3 6 3 6 7 7 4 5 ENSG00000241631 chr17 30702504 30702775 - RN7SL316P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241634 chr3 108543367 108543875 - AC069499.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000241635 chr2 233760248 233773299 + UGT1A1 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]. 54658 GO:0070069, GO:0048471, GO:0034663, GO:0005887, GO:0005789, GO:0005783, cytochrome complex, perinuclear region of cytoplasm, endoplasmic reticulum chaperone complex, integral component of plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042803, GO:0019899, GO:0015020, GO:0005496, GO:0004857, GO:0001972, protein homodimerization activity, enzyme binding, glucuronosyltransferase activity, steroid binding, enzyme inhibitor activity, retinoic acid binding, GO:0071392, GO:0071385, GO:0071361, GO:0070980, GO:0052697, GO:0052697, GO:0052696, GO:0052696, GO:0052695, GO:0052695, GO:0051552, GO:0046483, GO:0045939, GO:0043086, GO:0042594, GO:0042573, GO:0042493, GO:0042167, GO:0032496, GO:0031100, GO:0017144, GO:0008210, GO:0008202, GO:0007584, GO:0006953, GO:0006789, GO:0001889, cellular response to estradiol stimulus, cellular response to glucocorticoid stimulus, cellular response to ethanol, biphenyl catabolic process, xenobiotic glucuronidation, xenobiotic glucuronidation, flavonoid glucuronidation, flavonoid glucuronidation, cellular glucuronidation, cellular glucuronidation, flavone metabolic process, heterocycle metabolic process, negative regulation of steroid metabolic process, negative regulation of catalytic activity, response to starvation, retinoic acid metabolic process, response to drug, heme catabolic process, response to lipopolysaccharide, animal organ regeneration, drug metabolic process, estrogen metabolic process, steroid metabolic process, response to nutrient, acute-phase response, bilirubin conjugation, liver development, 0 0 0 0 0 0 0 0 0 ENSG00000241636 chr3 164670878 164686076 - LINC01323 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241640 chr15 59049399 59050385 - AC092757.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241641 chr16 12081237 12081902 + RPS23P6 processed_pseudogene 0 0 0 3 1 0 0 0 0 ENSG00000241644 chr7 30697985 30757602 + INMT protein_coding N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream MINDY4 (aka FAM188B) gene. In rodents and other mammals such as cetartiodactyla this gene is in the opposite orientation compared to its orientation in human and other primates and this gene appears to have been lost in carnivora and chiroptera. [provided by RefSeq, Jul 2019]. 11185 GO:0005829, GO:0005829, cytosol, cytosol, GO:0102707, GO:0030748, GO:0030748, GO:0008170, GO:0005515, GO:0004790, S-adenosyl-L-methionine:beta-alanine N-methyltransferase activity, amine N-methyltransferase activity, amine N-methyltransferase activity, N-methyltransferase activity, protein binding, thioether S-methyltransferase activity, GO:0032259, GO:0009636, GO:0009308, methylation, response to toxic substance, amine metabolic process, 0 0 0 0 1 0 0 1 0 ENSG00000241648 chr3 85799987 85828050 - CADM2-AS2 antisense 100874037 0 0 0 0 0 0 0 0 0 ENSG00000241651 chr4 128069014 128069612 - AC099340.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241652 chr4 173141643 173141938 + RN7SL253P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241654 chr17 9589902 9590482 - RPL19P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241656 chr12 115592604 115592983 - UBA52P7 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000241657 chr7 142433895 142434394 + TRBV11-2 lincRNA 3 0 2 6 2 4 8 1 5 ENSG00000241661 chr7 140292752 140293339 + PPP1R2P6 processed_pseudogene 0 0 0 0 3 6 0 1 0 ENSG00000241665 chr3 69769487 69769773 - RN7SL418P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241666 chr1 167627385 167630674 - AL031733.2 antisense 147 134 142 67 62 117 79 93 76 ENSG00000241667 chr3 69591341 69593121 + AC104445.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241668 chr5 31053565 31054153 + RPL19P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241669 chr3 167392796 167408519 + LINC01327 lincRNA 104310350 0 0 0 0 0 0 0 0 0 ENSG00000241671 chr3 153129074 153129640 - AC117394.1 processed_pseudogene 0 1 2 0 0 0 1 0 0 ENSG00000241673 chr3 129218093 129218350 - RPS27P12 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000241678 chr11 6685891 6686369 - AC091564.1 processed_pseudogene 2 0 0 0 1 0 0 0 1 ENSG00000241679 chr3 143123362 143131893 + AC018450.1 processed_transcript 0 1 1 1 0 0 3 0 0 ENSG00000241680 chr12 110460988 110461362 + RPL31P49 processed_pseudogene 0 0 0 0 0 0 3 1 0 ENSG00000241684 chr3 64684909 65053439 + ADAMTS9-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241685 chr7 99325910 99366262 + ARPC1A protein_coding This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. 10552 GO:0070062, GO:0036195, GO:0035861, GO:0015629, GO:0005885, GO:0005885, GO:0005829, GO:0005634, extracellular exosome, muscle cell projection membrane, site of double-strand break, actin cytoskeleton, Arp2/3 protein complex, Arp2/3 protein complex, cytosol, nucleus, GO:0051015, GO:0003779, actin filament binding, actin binding, GO:0061024, GO:0048013, GO:0038096, GO:0034314, GO:0030036, membrane organization, ephrin receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, Arp2/3 complex-mediated actin nucleation, actin cytoskeleton organization, 95 84 78 61 115 93 124 90 70 ENSG00000241690 chr20 2814968 2818066 + AL035460.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000241693 chr22 38231720 38231993 + RN7SL704P misc_RNA 4 4 6 7 11 13 8 5 11 ENSG00000241695 chr3 145684572 145685092 + GM2AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241696 chr3 180414174 180422506 + LINC02053 lincRNA 100505609 0 0 0 0 0 0 0 0 0 ENSG00000241697 chr9 100473113 100577636 + TMEFF1 protein_coding 8577 GO:0016021, GO:0005886, GO:0005604, integral component of membrane, plasma membrane, basement membrane, GO:0005102, signaling receptor binding, GO:0016358, GO:0009888, GO:0009887, GO:0008045, dendrite development, tissue development, animal organ morphogenesis, motor neuron axon guidance, 0 0 0 0 0 0 0 0 0 ENSG00000241709 chr7 73732569 73732868 - RN7SL265P misc_RNA 0 0 0 0 0 0 0 1 1 ENSG00000241717 chr22 16690103 16704477 - VWFP1 transcribed_unprocessed_pseudogene 0 0 3 2 0 0 0 0 4 ENSG00000241720 chr1 109725820 109775252 + AL158847.1 antisense 0 2 1 13 2 0 1 0 0 ENSG00000241721 chr20 53875252 53875557 - SUMO1P1 processed_pseudogene 119 85 122 376 379 537 211 341 323 ENSG00000241722 chr4 111551854 111552173 + AC083795.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241723 chr3 158275809 158276421 - AC074276.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241728 chr21 44328944 44330221 - AP001062.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000241735 chr7 152435695 152443176 + FABP5P3 transcribed_processed_pseudogene 220832 GO:0008289, lipid binding, 71 58 99 13 33 63 64 33 36 ENSG00000241738 chr3 101357292 101359242 + ZNF90P1 processed_pseudogene 4 9 9 9 4 5 6 10 20 ENSG00000241739 chr5 31840492 31840971 - AC010469.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241741 chr4 112788083 112788878 - RPL7AP30 processed_pseudogene 0 0 0 4 0 0 2 0 0 ENSG00000241743 chrX 113616300 114059289 - XACT lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241744 chr12 101228141 101228876 - AC079953.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241745 chr1 52150104 52150419 + RN7SL788P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241746 chr8 80265528 80266155 - AC104212.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241749 chr12 65758020 65826997 - RPSAP52 transcribed_processed_pseudogene 204010 0 0 0 5 0 0 0 0 0 ENSG00000241754 chr3 102663163 102673913 - AC108748.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241755 chr2 89009982 89010515 - IGKV1-9 IG_V_gene 0 0 0 0 2 0 0 6 0 ENSG00000241756 chr7 38531042 38531338 - RN7SL83P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241757 chr14 98351367 98351664 - RN7SL714P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241764 chr7 107742817 107744581 - AC002467.1 antisense 101927974 49 40 51 20 32 36 31 18 26 ENSG00000241765 chr12 69422656 69422995 + RPS26P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241767 chr3 164714095 164831480 - LINC01324 lincRNA 104355289 0 0 0 0 0 0 0 0 0 ENSG00000241769 chrX 149527591 149540959 - LINC00893 antisense 100131434 32 36 52 38 46 100 38 38 45 ENSG00000241770 chr3 157163452 157169133 + AC104411.1 antisense 2 3 6 3 1 9 2 0 7 ENSG00000241772 chr2 138569090 138574458 + AC092620.2 3prime_overlapping_ncRNA 19 22 11 8 30 30 19 25 23 ENSG00000241776 chr3 84691681 84692591 - AC117482.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241777 chr3 108725440 108725536 - AC092185.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241782 chr11 77868722 77869195 - AP002812.1 processed_pseudogene 4 3 2 0 9 0 1 0 3 ENSG00000241785 chr12 54255627 54255910 - RN7SL390P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241787 chr3 106894352 106895718 - MTND4P16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241788 chr17 48713730 48713959 + COX6B1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241789 chr3 51872178 51872464 + RN7SL504P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241790 chr2 201621646 201623430 - ENO1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241791 chr2 46448224 46448511 - RN7SL817P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241792 chr3 148093175 148127233 + AC092958.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241794 chr1 153056113 153057537 - SPRR2A protein_coding 6700 GO:0005829, GO:0005737, GO:0001533, GO:0001533, cytosol, cytoplasm, cornified envelope, cornified envelope, GO:0005515, protein binding, GO:0070268, GO:0030216, GO:0008544, cornification, keratinocyte differentiation, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000241804 chr3 59535863 59536415 + AC126121.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241807 chr15 75785134 75785354 + RN7SL319P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241808 chr16 63350763 63351149 - RPS15AP34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241809 chr5 52903908 52904478 + AC022133.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241810 chr3 153067278 153067551 + HMGN2P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241815 chr3 96566357 96567103 + AC107015.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241818 chr15 32656084 32673065 - AC123768.1 antisense 105370757 0 0 0 0 0 0 0 0 0 ENSG00000241821 chr20 56688401 56688695 + RN7SL170P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241825 chr12 68684595 68686308 + RPL7P42 processed_pseudogene 2 1 0 0 0 0 0 0 0 ENSG00000241828 chr12 7860437 7860764 + AC006517.1 processed_pseudogene 1 0 0 0 0 1 0 0 0 ENSG00000241829 chr5 34883057 34883520 + RPL21P54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241832 chr22 17256859 17266733 - CECR3 lincRNA 27442 0 0 0 0 0 0 0 0 0 ENSG00000241834 chr8 41840059 41840339 - RN7SL149P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241837 chr21 33903453 33915980 - ATP5PO protein_coding The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]. 539 GO:0045261, GO:0005886, GO:0005753, GO:0005753, GO:0005743, GO:0005739, GO:0005739, GO:0005634, GO:0000274, proton-transporting ATP synthase complex, catalytic core F(1), plasma membrane, mitochondrial proton-transporting ATP synthase complex, mitochondrial proton-transporting ATP synthase complex, mitochondrial inner membrane, mitochondrion, mitochondrion, nucleus, mitochondrial proton-transporting ATP synthase, stator stalk, GO:0046933, GO:0046933, GO:0005515, proton-transporting ATP synthase activity, rotational mechanism, proton-transporting ATP synthase activity, rotational mechanism, protein binding, GO:1902600, GO:0042776, GO:0042776, GO:0042776, GO:0042407, GO:0015986, GO:0006754, GO:0006754, proton transmembrane transport, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, mitochondrial ATP synthesis coupled proton transport, cristae formation, ATP synthesis coupled proton transport, ATP biosynthetic process, ATP biosynthetic process, 41 32 31 42 20 33 16 24 41 ENSG00000241838 chr22 15721486 15722608 + AP000529.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241839 chr15 64841883 64868007 + PLEKHO2 protein_coding 80301 GO:1904813, GO:0005576, ficolin-1-rich granule lumen, extracellular region, GO:0043312, neutrophil degranulation, 4748 4440 9790 1210 2364 1996 1450 1910 1874 ENSG00000241846 chr12 25409293 25409445 - AC092451.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241852 chr8 22599601 22604150 + C8orf58 protein_coding 541565 91 66 62 126 154 178 145 111 122 ENSG00000241853 chr4 88163579 88163967 + AC097484.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241859 chrY 13751656 13915824 + ANOS2P transcribed_unprocessed_pseudogene 4 1 2 2 0 11 10 2 7 ENSG00000241860 chr1 141474 173862 - AL627309.5 processed_transcript 28 56 24 45 48 30 32 17 176 ENSG00000241861 chr3 89047442 89048434 - GAPDHP50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241866 chr18 73744935 73745232 + RN7SL401P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241868 chr3 196397508 196397778 - RN7SL434P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000241869 chr15 90855935 90856207 - RN7SL363P misc_RNA 0 1 0 0 3 0 4 2 0 ENSG00000241870 chr5 181065086 181065677 + AC008620.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241874 chr3 162486541 162486949 - TOMM22P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241877 chr4 178286695 178287285 + AC095041.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241878 chr22 31618491 31662432 - PISD protein_coding The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]. 23761 GO:0031305, GO:0005739, GO:0005634, integral component of mitochondrial inner membrane, mitochondrion, nucleus, GO:0004609, phosphatidylserine decarboxylase activity, GO:0016540, GO:0006646, protein autoprocessing, phosphatidylethanolamine biosynthetic process, 1945 2312 2456 751 1504 751 826 1177 745 ENSG00000241879 chr3 156977558 156977825 + KLF3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241881 chr7 142285750 142288869 + AC245088.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241882 chr3 168288553 168291228 + AC124893.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241884 chr3 67296300 67306359 + AC114401.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241886 chrX 30698207 30721932 + AC112496.1 sense_intronic 187 152 311 68 86 105 93 42 119 ENSG00000241888 chr5 125966777 125968085 - RPSAP37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241889 chr3 113885298 113886031 + AC079944.2 processed_pseudogene 31 45 40 29 66 39 62 39 20 ENSG00000241890 chr15 75388267 75388828 + RPL13P4 processed_pseudogene 7 1 5 2 4 16 0 0 4 ENSG00000241891 chr14 81777016 81777613 - RPL9P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241899 chr3 141709016 141709832 - TPT1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241905 chr3 135959275 135959590 - NDUFS6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241907 chr5 150021567 150021921 - RPS20P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241911 chr7 142711384 142711924 + TRBVB TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241912 chr3 153376831 153377562 + AC078788.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000241913 chr17 59912197 59912366 + RPS29P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241917 chr12 101936216 101936674 + AC084398.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000241921 chr7 126378970 126424185 + AC000372.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000241923 chr4 140366240 140366861 - RPL14P3 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000241926 chr7 141801315 141802059 - MTCO1P55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241929 chr3 149462182 149464830 - AC108751.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241932 chr16 12881170 12881493 + AC092324.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241933 chr3 57693205 57696596 + DENND6A-DT lincRNA 101929159 1 2 0 3 3 10 6 4 1 ENSG00000241935 chr10 97584323 97612802 + HOGA1 protein_coding The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]. 112817 GO:0005759, GO:0005739, mitochondrial matrix, mitochondrion, GO:0042803, GO:0008700, GO:0008700, GO:0005515, protein homodimerization activity, 4-hydroxy-2-oxoglutarate aldolase activity, 4-hydroxy-2-oxoglutarate aldolase activity, protein binding, GO:0046487, GO:0046487, GO:0042866, GO:0033609, GO:0019470, GO:0009436, glyoxylate metabolic process, glyoxylate metabolic process, pyruvate biosynthetic process, oxalate metabolic process, 4-hydroxyproline catabolic process, glyoxylate catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000241939 chr3 43314951 43315255 + RN7SL517P misc_RNA 10 9 8 2 2 0 5 1 1 ENSG00000241941 chr12 62658823 62659225 + RPL32P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241942 chr8 71895991 71896330 + RPS20P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241943 chr11 16576851 16577135 + RN7SL188P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241945 chr21 44107290 44131181 + PWP2 protein_coding 5822 GO:0034388, GO:0032040, GO:0005654, Pwp2p-containing subcomplex of 90S preribosome, small-subunit processome, nucleoplasm, GO:0003723, RNA binding, GO:0006364, GO:0000462, GO:0000028, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), ribosomal small subunit assembly, 1 1 28 0 0 2 1 4 8 ENSG00000241946 chr3 180589887 180590047 - AC068298.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241947 chr3 149999645 150000690 + HNRNPA1P24 processed_pseudogene 0 0 0 0 3 0 2 0 3 ENSG00000241950 chr11 33190062 33190503 - RPL29P23 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000241954 chr22 32383786 32385631 + AL021937.4 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000241956 chr5 164296696 165171643 + AC109466.1 antisense 102546299 0 0 0 0 0 0 0 0 0 ENSG00000241959 chr7 151464650 151464938 - RN7SL76P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241961 chr8 67406515 67407072 + AC011037.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241962 chr2 99141485 99322741 + AC079447.1 protein_coding 11 8 19 11 13 4 9 16 12 ENSG00000241963 chr5 154349428 154349725 + RN7SL655P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241964 chr8 63234634 63234911 - RN7SL135P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241965 chr5 85762559 85763138 + RPS2P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241973 chr22 20707691 20859417 - PI4KA protein_coding This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]. 5297 GO:0070062, GO:0030660, GO:0019034, GO:0016020, GO:0016020, GO:0005925, GO:0005886, GO:0005886, GO:0005829, GO:0005737, GO:0005737, extracellular exosome, Golgi-associated vesicle membrane, viral replication complex, membrane, membrane, focal adhesion, plasma membrane, plasma membrane, cytosol, cytoplasm, cytoplasm, GO:0052742, GO:0045296, GO:0016301, GO:0005524, GO:0005515, GO:0004430, GO:0004430, phosphatidylinositol kinase activity, cadherin binding, kinase activity, ATP binding, protein binding, 1-phosphatidylinositol 4-kinase activity, 1-phosphatidylinositol 4-kinase activity, GO:0048015, GO:0046854, GO:0046854, GO:0046786, GO:0044803, GO:0039694, GO:0016310, GO:0007165, GO:0006661, phosphatidylinositol-mediated signaling, phosphatidylinositol phosphorylation, phosphatidylinositol phosphorylation, viral replication complex formation and maintenance, multi-organism membrane organization, viral RNA genome replication, phosphorylation, signal transduction, phosphatidylinositol biosynthetic process, 920 1180 1360 765 1107 1061 882 783 914 ENSG00000241975 chr1 88829102 88829419 + ELOCP19 processed_pseudogene 87 91 105 56 120 95 105 84 89 ENSG00000241978 chr9 110048598 110172512 + AKAP2 protein_coding 0 0 0 0 1 0 0 0 0 ENSG00000241981 chr4 102662611 102663073 + AF213884.1 processed_pseudogene 2 0 4 3 0 0 0 0 0 ENSG00000241983 chr19 39369153 39369448 + RN7SL566P misc_RNA 56 61 48 9 22 7 9 11 3 ENSG00000241984 chr14 39156742 39157852 + RPL7AP2 processed_pseudogene 1 3 2 5 3 0 2 0 0 ENSG00000241985 chr3 149648997 149650184 - WWTR1-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000241990 chr22 46053705 46057210 + PRR34-AS1 antisense 6 5 12 8 4 15 2 11 12 ENSG00000241991 chr5 62561859 62562216 - AC114982.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241992 chr1 96583209 96583527 + RN7SL831P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000241993 chr3 148695994 148696204 - RPL38P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000241997 chr8 56022019 56022313 - RN7SL323P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242001 chr3 125681305 125681453 + AF186996.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242009 chr3 81840547 81922861 + AC129807.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242012 chr3 182365147 182368256 + AC084211.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242014 chr6 33540694 33541000 + RN7SL26P misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000242017 chr3 156044155 156044948 - ALG1L15P processed_pseudogene 0 0 0 0 0 4 0 2 0 ENSG00000242019 chr19 54724479 54736536 + KIR3DL3 protein_coding Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the 'framework' loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]. 115653 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000242020 chr5 141479316 141479625 + RN7SL68P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242021 chrX 27042907 27176298 - AC112493.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242028 chr15 43796142 43803043 + HYPK protein_coding 25764 GO:0032991, GO:0015630, GO:0005737, GO:0005654, GO:0005634, protein-containing complex, microtubule cytoskeleton, cytoplasm, nucleoplasm, nucleus, GO:0047485, GO:0005515, protein N-terminus binding, protein binding, GO:0050821, GO:0050821, GO:0043066, GO:0043066, protein stabilization, protein stabilization, negative regulation of apoptotic process, negative regulation of apoptotic process, 64 115 101 98 164 251 142 102 129 ENSG00000242029 chr3 109648107 109810861 + AC078980.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242034 chr4 9553614 9553985 - AC097493.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242036 chr3 167956311 167956616 - AC128713.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242041 chr12 49863173 49863503 + RPL35AP28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242042 chr1 246516039 246524287 - LINC01743 lincRNA 255654 0 0 0 0 0 0 0 0 0 ENSG00000242048 chr7 151806490 151810820 + AC093583.1 processed_transcript 644090 0 0 3 0 1 8 0 1 0 ENSG00000242049 chr3 128463594 128472317 + DNAJB8-AS1 antisense 285224 0 0 0 0 0 0 0 0 0 ENSG00000242052 chr3 119635526 119636150 - RPL10P7 processed_pseudogene 0 1 0 0 2 0 0 2 0 ENSG00000242058 chr18 9020029 9020764 + RPS4XP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242060 chr18 60149576 60150365 + RPS3AP49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242061 chr14 22694098 22694535 - AL160314.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242062 chr3 128852112 128853008 - MARK2P6 processed_pseudogene 0 1 0 0 0 0 8 1 0 ENSG00000242065 chrX 44772773 44773061 - RN7SL291P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242066 chr15 77916718 77916982 - RN7SL214P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242067 chr17 48691116 48691694 - RPL9P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242068 chr3 180772750 180773914 - AC108734.3 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000242070 chr3 137723774 137724543 + NPM1P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242071 chr14 69885340 69886140 - RPL7AP6 processed_pseudogene 58 70 130 170 29 215 120 29 130 ENSG00000242072 chr7 115647461 115676329 - AC092590.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242073 chr7 75474707 75486108 - AC211429.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242076 chr2 89266494 89268506 - IGKV1-33 IG_V_gene 0 0 0 0 0 0 10 0 0 ENSG00000242078 chr7 129783370 129785185 - AC084864.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242079 chr8 5142411 5142707 - RN7SL318P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242080 chr5 152495718 152496017 - AC008571.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242082 chr22 32205115 32269666 + SLC5A4-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000242083 chr4 56356135 56356932 + RPL7AP31 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000242085 chr14 105374618 105374971 + RPS20P33 processed_pseudogene 0 0 2 0 0 4 0 0 4 ENSG00000242086 chr3 195658062 195739964 + MUC20-OT1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242087 chr12 63871739 63872044 - RPL36AP41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242088 chr15 24910874 24911125 - AC090602.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242094 chr3 71570255 71574457 - FOXP1-IT1 sense_intronic 7 12 5 0 11 7 9 10 17 ENSG00000242097 chr3 151759747 151762011 - AC068647.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242100 chr19 29956369 29956988 - RPL9P32 processed_pseudogene 0 0 0 0 1 0 0 0 1 ENSG00000242101 chr7 100530362 100530659 - RN7SL416P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242102 chr4 140577925 140578222 + RN7SL152P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242103 chr3 121356991 121357940 + AC079841.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242104 chr3 141660536 141729405 + AC092978.1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242107 chr3 160016024 160031423 + LINC01100 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242109 chr3 24096512 24097360 - NPM1P23 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242110 chr5 33986178 34008108 - AMACR protein_coding This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]. 23600 GO:0043231, GO:0005886, GO:0005829, GO:0005782, GO:0005777, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, plasma membrane, cytosol, peroxisomal matrix, peroxisome, mitochondrion, cytoplasm, GO:0008410, GO:0008111, GO:0008111, GO:0008111, CoA-transferase activity, alpha-methylacyl-CoA racemase activity, alpha-methylacyl-CoA racemase activity, alpha-methylacyl-CoA racemase activity, GO:0033540, GO:0008206, GO:0006699, GO:0006699, GO:0006625, fatty acid beta-oxidation using acyl-CoA oxidase, bile acid metabolic process, bile acid biosynthetic process, bile acid biosynthetic process, protein targeting to peroxisome, 5 7 1 3 11 10 4 12 4 ENSG00000242111 chr9 104270228 104286955 + TOPORSLP transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242113 chr2 151372003 151372287 + RN7SL124P misc_RNA 8 4 21 12 34 39 41 10 60 ENSG00000242114 chr22 30425530 30429053 + MTFP1 protein_coding MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008]. 51537 GO:0016021, GO:0005743, GO:0005739, integral component of membrane, mitochondrial inner membrane, mitochondrion, GO:0005515, protein binding, GO:0014850, GO:0006915, GO:0000266, GO:0000266, response to muscle activity, apoptotic process, mitochondrial fission, mitochondrial fission, 0 0 0 7 1 3 2 0 16 ENSG00000242118 chr2 81967079 81967374 + RN7SL201P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242119 chr3 151499639 151499806 + AC117454.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242120 chr3 70196894 70312726 - MDFIC2 protein_coding 107986096 0 0 0 0 0 0 0 0 0 ENSG00000242121 chr2 182314284 182314544 + RN7SL267P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242123 chr17 62319884 62320189 + AC053481.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242125 chr1 28505980 28510892 + SNHG3 processed_transcript 8420 105 70 124 188 154 257 196 92 179 ENSG00000242134 chr4 142286917 142287625 - RPL5P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242135 chr14 60212462 60212912 - RPL17P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242136 chr2 9103440 9105114 + AC093904.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000242137 chr12 120594015 120594548 - RPL11P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242140 chr3 181146233 181146463 + AC083904.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242142 chr3 53064283 53065091 - SERBP1P3 processed_pseudogene 0 0 0 4 0 1 0 0 0 ENSG00000242145 chr3 81208193 81208914 - AC099542.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242147 chr10 5594991 5596118 - AL365356.5 lincRNA 105376382 0 0 0 0 0 0 0 0 0 ENSG00000242151 chr3 154657294 154657563 + DYNLL1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242152 chr3 155431229 155433398 - AC108729.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242153 chrY 18674033 18739197 + OFD1P6Y transcribed_unprocessed_pseudogene This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. 83864 0 0 0 0 0 0 0 0 0 ENSG00000242154 chr7 105304277 105306642 + AC004884.2 antisense 56 66 86 50 53 42 45 60 66 ENSG00000242156 chr22 29419155 29423193 - AC000041.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242158 chr2 60640705 60641002 + RN7SL361P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242159 chr3 88317156 88319022 + ABCF2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242162 chr7 129066021 129066462 - AC018639.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000242163 chr14 81332961 81333361 - AL121769.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242165 chr11 100641975 100642273 - RN7SL222P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242169 chr4 188349376 188350024 - AC093789.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242170 chr8 125270604 125270902 + RN7SL329P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242173 chr16 268727 283010 + ARHGDIG protein_coding The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]. 398 GO:0031410, GO:0016020, GO:0005886, GO:0005829, GO:0005829, GO:0005829, cytoplasmic vesicle, membrane, plasma membrane, cytosol, cytosol, cytosol, GO:0031267, GO:0005515, GO:0005096, GO:0005094, small GTPase binding, protein binding, GTPase activator activity, Rho GDP-dissociation inhibitor activity, GO:0051056, GO:0043547, GO:0032880, GO:0007266, GO:0007162, GO:0001835, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of protein localization, Rho protein signal transduction, negative regulation of cell adhesion, blastocyst hatching, 0 0 0 0 0 0 0 0 0 ENSG00000242175 chr4 78898855 78899154 + RN7SL127P misc_RNA 0 1 5 0 5 12 0 2 1 ENSG00000242176 chr16 71991151 71991305 - RPL39P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242178 chr3 166160021 166160370 - MTND4P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242182 chr18 23004564 23004862 + RN7SL745P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242186 chrX 149056716 149057166 + AC231760.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242190 chr3 81762706 81764756 - AC017015.2 lincRNA 2 0 3 6 3 9 6 1 0 ENSG00000242193 chr1 178006136 178037950 - CRYZL2P transcribed_unitary_pseudogene 730102 1 10 3 1 4 2 2 0 2 ENSG00000242195 chr3 83937045 83938236 + SRRM1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242197 chr4 40491733 40492024 + AC098869.1 processed_pseudogene 1 0 0 0 5 7 3 0 0 ENSG00000242198 chr5 75374463 75374809 + AC008897.1 processed_pseudogene 8 17 14 21 28 28 19 11 21 ENSG00000242199 chr3 124733418 124733754 - AC022336.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242201 chr3 194145674 194145971 + RN7SL215P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242206 chr8 118761856 118762201 - RPS26P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242207 chr17 48628675 48634932 + HOXB-AS4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000242208 chr11 56357328 56358221 + RPL5P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242209 chr4 13647697 13648400 - AC006445.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242214 chr3 106896483 106896821 - MTND3P6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242216 chr18 25818234 25818532 - RN7SL97P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242220 chr21 32574841 32587373 - TCP10L protein_coding 140290 GO:0005814, GO:0005634, GO:0005634, centriole, nucleus, nucleus, GO:0070491, GO:0043621, GO:0042802, GO:0005515, GO:0003714, GO:0003714, repressing transcription factor binding, protein self-association, identical protein binding, protein binding, transcription corepressor activity, transcription corepressor activity, GO:0000122, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000242221 chr19 43064211 43083045 - PSG2 protein_coding The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]. 5670 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0003674, molecular_function, GO:0016477, GO:0007565, cell migration, female pregnancy, 0 0 0 0 0 0 0 0 0 ENSG00000242222 chr3 135925891 135926167 + AC092989.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242229 chr3 125795106 125795885 + RPS3AP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242236 chr20 25654595 25654881 - RN7SL594P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242241 chr7 128970734 128971029 + RN7SL306P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242242 chr3 110893708 111071553 - NECTIN3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000242244 chr3 138889255 138889957 - ATP5MC1P3 processed_pseudogene 0 1 0 35 80 112 42 49 86 ENSG00000242246 chr6 153666466 153666666 + AL603908.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242247 chr22 42796502 42858106 - ARFGAP3 protein_coding The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]. 26286 GO:0016020, GO:0005829, GO:0005829, GO:0005794, GO:0000139, membrane, cytosol, cytosol, Golgi apparatus, Golgi membrane, GO:0046872, GO:0005515, GO:0005096, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0048205, GO:0043547, GO:0016192, GO:0009306, GO:0006890, GO:0006888, GO:0006886, COPI coating of Golgi vesicle, positive regulation of GTPase activity, vesicle-mediated transport, protein secretion, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, 1140 832 1178 532 706 728 678 591 535 ENSG00000242248 chr11 92161106 92161889 + RPL7AP57 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242251 chr22 31757202 31757498 + RN7SL20P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242252 chr1 156241962 156243321 + BGLAP protein_coding This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015]. 632 GO:0043204, GO:0031982, GO:0030425, GO:0005796, GO:0005791, GO:0005788, GO:0005737, GO:0005615, GO:0005576, perikaryon, vesicle, dendrite, Golgi lumen, rough endoplasmic reticulum, endoplasmic reticulum lumen, cytoplasm, extracellular space, extracellular region, GO:0046848, GO:0046848, GO:0008147, GO:0008147, GO:0005515, GO:0005509, GO:0005198, hydroxyapatite binding, hydroxyapatite binding, structural constituent of bone, structural constituent of bone, protein binding, calcium ion binding, structural molecule activity, GO:1900076, GO:0071363, GO:0071305, GO:0060348, GO:0051384, GO:0045670, GO:0045471, GO:0045124, GO:0043627, GO:0042493, GO:0042476, GO:0033594, GO:0033574, GO:0033280, GO:0032571, GO:0030500, GO:0030282, GO:0014823, GO:0010043, GO:0009629, GO:0009612, GO:0007569, GO:0007155, GO:0006888, GO:0002076, GO:0001649, GO:0001649, GO:0001501, regulation of cellular response to insulin stimulus, cellular response to growth factor stimulus, cellular response to vitamin D, bone development, response to glucocorticoid, regulation of osteoclast differentiation, response to ethanol, regulation of bone resorption, response to estrogen, response to drug, odontogenesis, response to hydroxyisoflavone, response to testosterone, response to vitamin D, response to vitamin K, regulation of bone mineralization, bone mineralization, response to activity, response to zinc ion, response to gravity, response to mechanical stimulus, cell aging, cell adhesion, endoplasmic reticulum to Golgi vesicle-mediated transport, osteoblast development, osteoblast differentiation, osteoblast differentiation, skeletal system development, 4 1 2 5 9 2 12 6 6 ENSG00000242255 chr19 52564076 52564231 + RPL39P34 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242256 chr9 112242550 112242839 - RN7SL57P misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000242258 chr7 150433654 150448140 + LINC00996 lincRNA 285972 2 0 2 8 0 2 1 1 4 ENSG00000242259 chr22 19351368 19448232 - C22orf39 protein_coding 128977 GO:0005515, protein binding, 163 169 175 68 80 124 76 93 70 ENSG00000242261 chr7 128306649 128307678 + AC018635.1 processed_pseudogene 4 2 8 5 2 3 7 3 20 ENSG00000242262 chr4 47706372 47706987 + AC092597.1 processed_pseudogene 1 0 0 0 0 1 0 0 0 ENSG00000242265 chr7 94656325 94669695 + PEG10 protein_coding This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]. 23089 GO:0005829, GO:0005829, GO:0005737, GO:0005654, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0008270, GO:0005515, GO:0003723, GO:0003677, zinc ion binding, protein binding, RNA binding, DNA binding, GO:0030512, GO:0030154, GO:0006915, negative regulation of transforming growth factor beta receptor signaling pathway, cell differentiation, apoptotic process, 1 7 3 11 5 18 4 4 12 ENSG00000242266 chr7 147940007 147940301 + RN7SL456P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242267 chr1 48096092 48182428 - SKINT1L transcribed_unprocessed_pseudogene 1 0 0 0 0 0 0 1 0 ENSG00000242268 chr3 168903366 168921996 + LINC02082 lincRNA 100507661 0 0 0 0 0 0 0 0 0 ENSG00000242272 chr2 31823413 31823817 - AK2P2 processed_pseudogene 0 1 0 0 3 0 0 0 0 ENSG00000242276 chr15 71063101 71063989 - RPL5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242278 chr16 5270174 5270954 + AC074051.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242279 chr11 82957423 82958216 + AP000893.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242280 chr7 143985142 143986651 + SLC16A1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242281 chr9 129370170 129370461 - RN7SL159P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242282 chr2 3531813 3536873 - AC108488.1 lincRNA 0 6 3 3 3 0 0 0 2 ENSG00000242285 chr3 160584945 160585787 + RPL6P8 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000242288 chr10 73674295 73730466 - AC022400.3 processed_transcript This locus represents naturally occurring readthrough transcription between the neighboring BMS1P4 (BMS1, ribosome biogenesis factor pseudogene 4) and AGAP5 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 5) genes on chromosome 10. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jan 2019]. 113939925 0 0 0 0 0 0 0 0 0 ENSG00000242290 chr3 114445521 114529452 + ZBTB20-AS5 lincRNA 101929754 1 1 1 2 1 1 2 0 0 ENSG00000242291 chr19 21233335 21233652 + RPL36AP51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242292 chr5 36588506 36588661 + AC010631.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242293 chr14 69023150 69023308 - RPS29P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242294 chr7 100336079 100351900 + STAG3L5P transcribed_unprocessed_pseudogene 101735302 47 57 87 51 36 35 47 32 54 ENSG00000242295 chr15 96448154 96448493 + AC087477.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242296 chr8 12393209 12400366 - DEFB109A unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242299 chr3 101576489 101576947 - AC073861.1 processed_pseudogene 214 67 326 130 250 111 166 55 191 ENSG00000242307 chr16 13922332 13922679 - RPS26P52 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242308 chr3 112696908 112697706 - AC048334.1 unprocessed_pseudogene 0 0 0 1 1 3 1 1 1 ENSG00000242314 chr12 31948334 31948827 + RPL12P32 processed_pseudogene 12 5 11 0 2 1 5 0 2 ENSG00000242315 chr8 100957883 100958180 + RN7SL685P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242317 chr3 55493830 55505261 - AC121764.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242318 chr4 98409290 98409763 + AC058823.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242320 chr18 55635833 55636310 + RPL21P126 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242321 chr3 138796851 138797240 + RPL23AP40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242324 chr20 1516759 1557653 - AL049634.1 unprocessed_pseudogene 21 13 18 15 25 14 32 15 6 ENSG00000242325 chr19 32636078 32636475 + RPS12P31 processed_pseudogene 1 1 3 2 4 5 10 0 8 ENSG00000242326 chr3 166181313 166181820 - MCUR1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242327 chr15 52095295 52095747 + AC023906.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242329 chr12 12840804 12841079 - AC007215.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242330 chr14 71448689 71448958 + RN7SL683P misc_RNA 6 1 0 2 0 0 0 1 0 ENSG00000242337 chr3 133661998 133754576 + TFP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242338 chr10 73715843 73730469 - BMS1P4 transcribed_unprocessed_pseudogene 4 5 3 2 2 5 0 2 0 ENSG00000242339 chr3 84884936 84893379 + LINC02025 lincRNA 105377192 0 0 0 0 0 0 0 0 0 ENSG00000242341 chr5 178377924 178378220 + RN7SL646P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242348 chr20 1666360 1666640 + RN7SL561P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242352 chr1 143766540 143769083 + FAM91A3P transcribed_processed_pseudogene 6 5 7 6 5 0 4 5 8 ENSG00000242353 chr11 30368148 30368646 + RPL12P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242358 chr4 16256308 16256555 - RPS21P4 processed_pseudogene 1 2 1 0 2 10 1 1 0 ENSG00000242360 chr13 27989296 27989584 - RN7SL272P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242362 chrX 120977606 120980928 - CT47A2 protein_coding This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. 728090 0 0 0 0 0 0 0 0 0 ENSG00000242364 chr3 73648399 73648807 - AC108725.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242365 chr3 88601061 88601402 + NDUFA5P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242366 chr2 233617645 233773310 + UGT1A8 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008]. 54576 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042803, GO:0019899, GO:0015020, GO:0005504, GO:0005496, GO:0004857, GO:0001972, protein homodimerization activity, enzyme binding, glucuronosyltransferase activity, fatty acid binding, steroid binding, enzyme inhibitor activity, retinoic acid binding, GO:0052697, GO:0052697, GO:0052696, GO:0052696, GO:0051552, GO:0045939, GO:0045922, GO:0043086, GO:0042573, GO:0009804, GO:0008202, GO:0006631, xenobiotic glucuronidation, xenobiotic glucuronidation, flavonoid glucuronidation, flavonoid glucuronidation, flavone metabolic process, negative regulation of steroid metabolic process, negative regulation of fatty acid metabolic process, negative regulation of catalytic activity, retinoic acid metabolic process, coumarin metabolic process, steroid metabolic process, fatty acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000242370 chr3 156441157 156446905 - KCNAB1-AS1 antisense 100874084 0 0 0 0 0 0 0 0 0 ENSG00000242371 chr2 89319625 89320146 - IGKV1-39 IG_V_gene 2 0 0 6 1 6 1 9 9 ENSG00000242372 chr20 35278911 35284985 - EIF6 protein_coding Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]. 3692 GO:0070062, GO:0030687, GO:0005829, GO:0005737, GO:0005730, GO:0005654, GO:0005638, GO:0005634, extracellular exosome, preribosome, large subunit precursor, cytosol, cytoplasm, nucleolus, nucleoplasm, lamin filament, nucleus, GO:0043023, GO:0043022, GO:0005515, GO:0003743, ribosomal large subunit binding, ribosome binding, protein binding, translation initiation factor activity, GO:2000377, GO:1902626, GO:0045727, GO:0045652, GO:0042304, GO:0042256, GO:0035278, GO:0035195, GO:0032868, GO:0006413, GO:0006110, GO:0000470, GO:0000460, GO:0000054, regulation of reactive oxygen species metabolic process, assembly of large subunit precursor of preribosome, positive regulation of translation, regulation of megakaryocyte differentiation, regulation of fatty acid biosynthetic process, mature ribosome assembly, miRNA mediated inhibition of translation, gene silencing by miRNA, response to insulin, translational initiation, regulation of glycolytic process, maturation of LSU-rRNA, maturation of 5.8S rRNA, ribosomal subunit export from nucleus, 91 121 126 74 106 67 72 91 59 ENSG00000242375 chr9 97195351 97197687 - AL590705.3 lincRNA 2 3 0 3 3 0 0 1 1 ENSG00000242381 chr13 25944478 25944766 + RN7SL741P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242385 chr3 116921431 116932238 + LINC00901 antisense 100506724 0 0 0 0 0 0 0 0 0 ENSG00000242387 chr6 25882026 25882395 - HIST1H2APS2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242389 chrY 21903618 21918067 - RBMY1E protein_coding This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]. 378950 GO:1990904, GO:0005634, ribonucleoprotein complex, nucleus, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000242390 chr3 142580910 142582399 + RPL6P9 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000242391 chr1 52881216 52881730 - AC099677.4 antisense 0 0 0 0 0 0 0 2 0 ENSG00000242393 chrY 21508299 21510470 - AC010141.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242396 chr1 54886875 54888001 + AC096536.2 antisense 2 0 0 0 0 0 2 1 0 ENSG00000242398 chr17 62005737 62006016 - RN7SL800P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242399 chr8 100776512 100776865 - RPS20P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242405 chr12 12155262 12155772 + AC007537.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242407 chr17 48733091 48733888 + AC091179.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242411 chr19 56217168 56217777 - AC011506.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242412 chr2 63117851 63119542 - DBIL5P2 transcribed_processed_pseudogene 100169989 0 0 0 0 1 0 0 0 0 ENSG00000242417 chr14 48489883 48490434 + RPL18P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242419 chr5 141484997 141512979 + PCDHGC4 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56098 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0050808, GO:0007156, GO:0007155, synapse organization, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 1 0 0 0 0 ENSG00000242423 chr16 58825891 58826368 + RPL12P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242428 chr3 58824437 59019093 + C3orf67-AS1 antisense 101929238 0 0 0 0 0 0 0 0 0 ENSG00000242430 chr16 14601823 14602094 - RN7SL274P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242431 chr4 47490967 47491471 - AC107398.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000242435 chr7 77004662 77005774 + UPK3BP1 transcribed_unprocessed_pseudogene 0 0 0 3 2 2 0 0 8 ENSG00000242436 chr19 32655016 32655308 - RN7SL789P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242439 chr17 30830901 30831318 + AC127024.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242440 chr3 148280891 148399956 + LINC02046 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242441 chr2 48617798 48733148 + GTF2A1L protein_coding The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]. 11036 GO:0005737, GO:0005672, cytoplasm, transcription factor TFIIA complex, GO:0005515, GO:0003713, GO:0003677, protein binding, transcription coactivator activity, DNA binding, GO:1903508, GO:0050890, GO:0006367, GO:0006366, positive regulation of nucleic acid-templated transcription, cognition, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000242444 chr12 4109661 4118132 - AC007207.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242445 chr3 121494110 121494908 + RPL7AP11 processed_pseudogene 2 1 0 1 0 3 0 0 0 ENSG00000242456 chr3 166161203 166161968 - MTCO3P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242457 chr3 94075912 94077175 - RBBP4P2 processed_pseudogene 5 2 7 2 7 0 4 3 3 ENSG00000242461 chr12 113054062 113054435 + RPS15AP32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242472 chr14 105863814 105863862 - IGHJ5 IG_J_gene 0 0 0 0 0 2 0 0 0 ENSG00000242473 chr19 54755023 54767371 + KIR2DP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242474 chr7 135853 149466 - AC093627.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242477 chr5 86884231 86884881 - AC091429.1 processed_pseudogene 0 0 0 0 0 2 1 1 1 ENSG00000242479 chr3 142450102 142452149 + AC109992.1 processed_pseudogene 10 6 20 11 10 9 27 7 25 ENSG00000242482 chr1 67656831 67657129 - RN7SL392P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242483 chr8 11379395 11379675 + RN7SL293P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242485 chr1 1401908 1407313 - MRPL20 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 55052 GO:0005762, GO:0005761, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial ribosome, mitochondrial inner membrane, mitochondrion, GO:0019843, GO:0005515, GO:0003735, GO:0003723, rRNA binding, protein binding, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0000027, mitochondrial translational termination, mitochondrial translational elongation, ribosomal large subunit assembly, 92 75 102 147 120 97 89 115 101 ENSG00000242488 chr14 75838157 75839114 - AF107885.1 transcribed_processed_pseudogene 0 0 2 0 0 0 0 1 0 ENSG00000242493 chr5 37246173 37246479 - RN7SL37P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242498 chr15 89895006 89912956 - ARPIN protein_coding 348110 GO:0030027, lamellipodium, GO:0005515, protein binding, GO:2000393, GO:0051126, GO:0051126, GO:0033058, GO:0030336, negative regulation of lamellipodium morphogenesis, negative regulation of actin nucleation, negative regulation of actin nucleation, directional locomotion, negative regulation of cell migration, 17 57 24 5 27 27 4 29 11 ENSG00000242507 chr20 35520852 35528255 - FO393401.2 transcribed_unprocessed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000242509 chr20 36870099 36870402 + RN7SL156P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242510 chr3 67513940 67514320 + NDUFB4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242512 chr3 181952343 182010678 + LINC01206 lincRNA 100996490 0 0 0 0 0 0 0 0 0 ENSG00000242515 chr2 233636454 233773305 + UGT1A10 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]. 54575 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042803, GO:0019899, GO:0015020, GO:0015020, GO:0005080, GO:0001972, protein homodimerization activity, enzyme binding, glucuronosyltransferase activity, glucuronosyltransferase activity, protein kinase C binding, retinoic acid binding, GO:0052697, GO:0052696, GO:0052695, GO:0052695, GO:0051552, xenobiotic glucuronidation, flavonoid glucuronidation, cellular glucuronidation, cellular glucuronidation, flavone metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000242516 chr3 75672391 75679303 + LINC00960 lincRNA 401074 0 0 0 0 0 0 2 0 0 ENSG00000242520 chrX 152114599 152115540 - MAGEA5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242522 chr3 183548735 183552326 + KLHL6-AS1 antisense 100874019 1 1 0 1 0 0 0 1 7 ENSG00000242524 chr6 29268462 29269421 - OR2U2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242525 chr3 112524187 112525201 - OR7E100P unprocessed_pseudogene 2 4 2 5 9 9 7 6 3 ENSG00000242527 chr11 27483850 27484128 + AC100771.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242529 chr1 248721993 248722201 - AHCYP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242531 chr3 122416882 122417012 - AC083798.1 unprocessed_pseudogene 3 0 0 2 0 3 0 4 0 ENSG00000242534 chr2 89959979 89960754 + IGKV2D-28 IG_V_gene 1 1 0 0 1 0 0 2 0 ENSG00000242536 chr3 158016216 158088997 - AC079943.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242537 chr3 156111432 156114198 - MRE11P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242539 chr3 179396961 179399191 + AC007620.2 antisense 261 214 269 68 214 209 111 157 206 ENSG00000242540 chr2 5696220 5708095 + AC108025.2 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000242545 chr3 59464330 59510678 - AC126121.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242547 chr5 64539504 64539792 + RN7SL169P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242550 chr18 63897174 63936111 + SERPINB10 protein_coding This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [provided by RefSeq, Dec 2015]. 5273 GO:0101003, GO:0030667, GO:0005886, GO:0005829, GO:0005654, GO:0005615, ficolin-1-rich granule membrane, secretory granule membrane, plasma membrane, cytosol, nucleoplasm, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0043312, GO:0010951, neutrophil degranulation, negative regulation of endopeptidase activity, 0 1 3 0 0 5 0 2 1 ENSG00000242551 chr3 128674735 128677005 - POU5F1P6 unprocessed_pseudogene 0 1 0 1 4 1 1 7 3 ENSG00000242552 chr7 47026128 47026570 - MRPL42P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242553 chr21 37221419 37237744 + AP001432.1 lincRNA 2 7 3 11 7 2 5 4 5 ENSG00000242559 chrX 41683168 41683462 - RN7SL144P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242560 chr6 96282567 96282863 + RN7SL797P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242561 chr3 152800434 152800732 - ATP5MGP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242562 chr7 106125371 106126700 + DCAF13P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242565 chr1 153704088 153704385 + RN7SL372P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242568 chr3 55335462 55350915 - AC121764.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242571 chr14 90366697 90367179 - RPL21P11 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000242573 chr3 101163094 101163986 + ACTR3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242574 chr6 32934629 32941070 - HLA-DMB protein_coding HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]. 3109 GO:0043231, GO:0042613, GO:0031902, GO:0016021, GO:0005765, intracellular membrane-bounded organelle, MHC class II protein complex, late endosome membrane, integral component of membrane, lysosomal membrane, GO:0023026, GO:0005515, MHC class II protein complex binding, protein binding, GO:2001190, GO:0042102, GO:0019886, GO:0019886, GO:0002503, GO:0002399, GO:0002250, positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell, positive regulation of T cell proliferation, antigen processing and presentation of exogenous peptide antigen via MHC class II, antigen processing and presentation of exogenous peptide antigen via MHC class II, peptide antigen assembly with MHC class II protein complex, MHC class II protein complex assembly, adaptive immune response, 4 13 0 3 12 0 5 5 1 ENSG00000242575 chr2 153420677 153421957 - AC012501.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242578 chr3 170410512 170418615 + AC073288.2 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000242580 chr2 90209873 90210529 + IGKV1D-43 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000242583 chr3 170062244 170062951 + AC008040.2 processed_pseudogene 1 1 2 2 2 4 0 0 4 ENSG00000242586 chr3 80442081 80442305 + AC108740.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242588 chr7 128574751 128626473 + AC108010.1 processed_transcript 118 133 151 55 85 82 93 72 75 ENSG00000242590 chr1 1055033 1056116 + AL645608.5 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000242593 chr7 124032205 124395118 + AC006148.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000242595 chr8 58113189 58113622 - RPL26P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242598 chr1 81557121 81557832 - MED28P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242599 chrX 152733827 152740985 + CSAG4 transcribed_unprocessed_pseudogene 100130935 0 0 0 0 0 0 0 0 0 ENSG00000242600 chr10 79920178 79923119 + MBL1P transcribed_unitary_pseudogene 8512 0 0 0 0 0 0 0 0 0 ENSG00000242602 chr5 72878868 72879185 - AC008953.1 processed_pseudogene 1 0 3 0 0 0 4 0 3 ENSG00000242607 chr8 12570350 12571130 - RPS3AP34 processed_pseudogene 1 0 1 0 0 3 0 0 1 ENSG00000242608 chr5 13250235 13250662 - RPS23P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242609 chr3 72086888 72087725 + AC105265.2 processed_pseudogene 13 18 32 7 14 29 26 13 32 ENSG00000242610 chrX 131398072 131398957 - OR5BH1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242611 chr7 77038 81178 + AC093627.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242612 chr16 401826 412487 + DECR2 protein_coding 26063 GO:0005829, GO:0005778, cytosol, peroxisomal membrane, GO:0019166, GO:0019166, GO:0008670, GO:0005515, trans-2-enoyl-CoA reductase (NADPH) activity, trans-2-enoyl-CoA reductase (NADPH) activity, 2,4-dienoyl-CoA reductase (NADPH) activity, protein binding, GO:0033540, GO:0006636, GO:0006625, fatty acid beta-oxidation using acyl-CoA oxidase, unsaturated fatty acid biosynthetic process, protein targeting to peroxisome, 0 0 0 0 0 0 0 0 0 ENSG00000242613 chr3 120388029 120389315 + AC063952.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242614 chr13 96169545 96169847 + RN7SL164P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242615 chr19 12141806 12143322 - AC022415.1 transcribed_processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000242616 chr9 111661335 111670246 + GNG10 protein_coding 2790 GO:0031680, GO:0005886, GO:0005834, G-protein beta/gamma-subunit complex, plasma membrane, heterotrimeric G-protein complex, GO:0031681, GO:0005515, GO:0003924, G-protein beta-subunit binding, protein binding, GTPase activity, GO:0007186, GO:0007165, G protein-coupled receptor signaling pathway, signal transduction, 9 5 7 5 7 11 15 6 6 ENSG00000242618 chr3 72202944 72209892 - AC112219.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242622 chr3 120094895 120136783 + AC092910.3 lincRNA 24 21 23 4 19 18 20 10 20 ENSG00000242628 chr2 24214381 24221516 + AC009228.1 antisense 81 77 97 68 125 75 59 66 102 ENSG00000242634 chr15 67232446 67232837 + RPS24P16 processed_pseudogene 0 0 0 3 2 0 0 0 0 ENSG00000242635 chr4 160818422 160818869 + RPS14P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242636 chr19 7750684 7751161 + RPL21P129 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242638 chr3 75182754 75183048 - RN7SL294P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242640 chr4 25678850 25679020 + RPS29P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242641 chr3 84638406 84881679 - LINC00971 lincRNA 440970 0 0 0 0 0 0 0 0 0 ENSG00000242650 chr7 51716657 51716922 + RN7SL292P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242651 chr18 9830330 9830627 - RN7SL862P misc_RNA 5 5 14 5 7 5 5 3 7 ENSG00000242653 chr7 34753424 34753719 + RN7SL132P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242654 chr5 19041009 19041386 + RPL32P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242657 chrX 70222006 70222314 - RN7SL581P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242659 chr3 113746872 113747408 - AC108693.2 lincRNA 107 90 133 24 27 50 21 44 21 ENSG00000242660 chr17 35566517 35566672 + AC015911.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242661 chr12 8359054 8359834 - RPS3AP43 processed_pseudogene 0 0 2 0 0 1 3 4 10 ENSG00000242667 chr15 60404463 60404960 + AC087385.2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000242668 chr19 53629713 53630041 + RN7SL317P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242670 chr4 54221126 54221472 + RPL22P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242671 chr3 146921923 146925218 + LINC02010 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242673 chr11 131004128 131004429 - RN7SL167P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242675 chr19 45332698 45333124 - RPS16P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242683 chr5 139035148 139035987 - RPL12P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242686 chr4 652850 656213 - AC107464.1 antisense 101928521 0 0 0 0 0 0 4 1 0 ENSG00000242688 chr1 19970969 19971269 + RN7SL304P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242689 chr11 58622673 58625733 + CNTF protein_coding The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Oct 2010]. 1270 GO:0030424, GO:0005737, GO:0005615, GO:0005615, GO:0005576, axon, cytoplasm, extracellular space, extracellular space, extracellular region, GO:0044877, GO:0008083, GO:0008083, GO:0005515, GO:0005138, GO:0005127, GO:0005125, protein-containing complex binding, growth factor activity, growth factor activity, protein binding, interleukin-6 receptor binding, ciliary neurotrophic factor receptor binding, cytokine activity, GO:0070120, GO:0070120, GO:0048680, GO:0048666, GO:0048644, GO:0048143, GO:0046668, GO:0046533, GO:0043524, GO:0043524, GO:0042531, GO:0042531, GO:0019221, GO:0010628, GO:0008284, GO:0007165, ciliary neurotrophic factor-mediated signaling pathway, ciliary neurotrophic factor-mediated signaling pathway, positive regulation of axon regeneration, neuron development, muscle organ morphogenesis, astrocyte activation, regulation of retinal cell programmed cell death, negative regulation of photoreceptor cell differentiation, negative regulation of neuron apoptotic process, negative regulation of neuron apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, cytokine-mediated signaling pathway, positive regulation of gene expression, positive regulation of cell population proliferation, signal transduction, 1 10 6 15 14 24 6 15 17 ENSG00000242692 chr17 10258762 10259232 + RPS27AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242696 chr2 202357076 202357417 - RN7SL40P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242697 chr4 98025390 98026240 + RPL5P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242699 chr2 29681027 29681323 - RN7SL516P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242703 chr7 140997952 140999800 - CCT4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242705 chr3 88948142 88950928 + ICE2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242706 chr5 80498534 80498971 - RPS27AP9 processed_pseudogene 0 0 0 0 0 0 2 4 0 ENSG00000242707 chr18 13715102 13715368 - RN7SL362P misc_RNA 0 0 0 3 0 3 4 5 15 ENSG00000242709 chr8 20113343 20113672 - RPL30P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242715 chr13 36222008 36297840 - CCDC169 protein_coding 728591 0 0 0 0 0 0 0 0 0 ENSG00000242719 chr8 42881236 42881517 + RN7SL806P misc_RNA 0 1 0 0 0 0 2 0 0 ENSG00000242727 chr4 76891034 76891445 + AC104687.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242728 chr3 70140217 70140488 + UQCRHP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242729 chr11 41538434 41538986 + AC021006.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242731 chr7 6931684 6939603 - FAM86LP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242732 chrX 72127110 72131901 - RTL5 protein_coding 340526 48 96 87 67 109 165 123 88 121 ENSG00000242735 chr2 62146413 62147153 + RPSAP26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242736 chr7 142299177 142299460 + TRBV1 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242737 chr15 50466738 50467096 + AC012170.1 processed_pseudogene 4 6 1 3 9 3 3 2 0 ENSG00000242741 chr3 73808601 73902866 + LINC02005 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242747 chr15 58869659 58870134 + AC090515.1 processed_pseudogene 0 2 0 0 0 3 0 0 0 ENSG00000242748 chr20 41196691 41197157 + RPL23AP81 transcribed_processed_pseudogene 0 0 0 0 0 2 2 0 4 ENSG00000242752 chr17 19603274 19603345 - NMTRQ-TTG12-1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242753 chr6 11487226 11515710 + AL445430.2 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000242756 chr13 18837768 18838098 - RHOT1P3 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000242757 chr1 227430526 227430976 + AL606462.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242759 chr3 106836811 107240641 - LINC00882 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242764 chr1 92402389 92402685 - RN7SL824P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242766 chr2 90082635 90083291 + IGKV1D-17 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000242767 chr3 115100423 115103061 + ZBTB20-AS4 lincRNA 100874131 0 0 0 0 0 2 0 0 0 ENSG00000242768 chr4 21656511 21656869 - AC096576.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242769 chr1 114697627 114697924 - RN7SL432P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242770 chr3 112802478 112812819 + AC092892.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000242771 chr7 142372640 142372912 + TRBV5-2 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242775 chr3 55360443 55361829 - AC121764.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242779 chr19 52968251 53037898 - ZNF702P transcribed_processed_pseudogene 79986 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 0 1 5 4 0 7 4 1 0 ENSG00000242781 chr3 80764897 80789354 + LINC02050 lincRNA 105377175 0 0 0 0 0 0 0 0 0 ENSG00000242790 chr3 155291188 155294176 + AC104831.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242791 chr3 149976755 149979355 + AC117395.1 lincRNA 4 4 3 2 10 4 3 6 2 ENSG00000242793 chr15 26851132 26851610 - AC135999.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242794 chr1 232222866 232223145 + RN7SL299P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242795 chr3 169613510 169623951 - AC007849.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000242797 chr3 52288580 52299067 - GLYCTK-AS1 processed_transcript 21 18 34 18 19 29 23 16 29 ENSG00000242798 chr7 100115214 100127139 - AC073842.2 antisense 3 0 7 2 2 0 3 2 0 ENSG00000242802 chr7 4775615 4794395 + AP5Z1 protein_coding This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]. 9907 GO:0044599, GO:0030119, GO:0016607, GO:0005737, GO:0005654, GO:0005634, AP-5 adaptor complex, AP-type membrane coat adaptor complex, nuclear speck, cytoplasm, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0016197, GO:0015031, GO:0000724, endosomal transport, protein transport, double-strand break repair via homologous recombination, 835 943 957 2238 2103 1759 2422 1526 1333 ENSG00000242807 chr11 93052395 93052827 - RPL26P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242808 chr3 180989762 181836880 + SOX2-OT sense_overlapping This gene produces alternatively spliced long non-coding RNAs. These RNAs were observed to be upregulated in tumor cells and positively correlated to expression of the SRY-box 2 gene. Overexpression of these transcripts may promote cell proliferation. [provided by RefSeq, Dec 2017]. 347689 GO:0007275, multicellular organism development, 0 1 0 2 0 0 4 0 4 ENSG00000242810 chr3 151475804 151476174 - MRPL42P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242811 chr3 180736405 180736703 - RN7SL229P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242814 chr5 124808828 124809233 - AC113398.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242816 chr3 117790673 117793765 + AC092691.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242818 chr10 119768247 119768538 + RN7SL846P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242828 chr3 80761042 80788963 - AC068756.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000242829 chr3 119298665 119299012 + RPS26P21 processed_pseudogene 0 0 1 0 0 2 2 4 3 ENSG00000242834 chr11 37725666 37726456 + RPL7AP56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242836 chr3 106896891 106897671 - MTCO3P35 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242837 chr14 103241492 103241972 + RPL21P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242841 chr3 63096374 63097711 - KRT8P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242849 chr3 52193170 52194785 + ALDOAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242850 chr12 87169985 87170429 - RPL23AP68 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242852 chr19 12461184 12513854 - ZNF709 protein_coding 163051 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2 7 4 4 1 7 0 6 1 ENSG00000242853 chr10 119212857 119213146 + RN7SL749P misc_RNA 1 1 2 3 1 3 0 1 4 ENSG00000242854 chrY 24179316 24183505 - DNM1P24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242855 chr7 39888375 39888664 + RN7SL496P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242856 chr19 54647944 54648853 + VN1R105P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242858 chr5 83746388 83746989 - AC020899.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242860 chr1 62072448 62072741 + RN7SL180P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242861 chr1 225840883 225846522 - AL591895.1 antisense 37 30 63 95 71 121 65 35 98 ENSG00000242863 chr15 97353497 97353815 + RN7SL677P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242865 chr6 53090961 53091257 + RN7SL244P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242866 chr15 43599563 43618800 - STRC protein_coding This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]. 161497 GO:0060091, GO:0060091, GO:0032426, GO:0032426, GO:0009986, kinocilium, kinocilium, stereocilium tip, stereocilium tip, cell surface, GO:0060088, GO:0050910, GO:0007160, auditory receptor cell stereocilium organization, detection of mechanical stimulus involved in sensory perception of sound, cell-matrix adhesion, 0 0 2 0 0 0 1 0 0 ENSG00000242875 chrY 21511338 21549094 + RBMY1B protein_coding This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]. 378948 GO:0005681, GO:0005634, spliceosomal complex, nucleus, GO:0003723, RNA binding, GO:0048026, GO:0008584, GO:0008380, GO:0007283, GO:0006397, positive regulation of mRNA splicing, via spliceosome, male gonad development, RNA splicing, spermatogenesis, mRNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000242876 chr22 20481935 20482213 - RN7SL812P misc_RNA 1 2 0 6 1 5 5 1 0 ENSG00000242879 chrY 6307710 6309587 + AC006335.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242880 chr3 115251196 115285347 + AC046136.1 lincRNA 0 0 0 0 0 1 0 1 0 ENSG00000242882 chr4 173419245 173420137 - RPL5P11 processed_pseudogene 0 0 0 1 0 0 0 1 2 ENSG00000242887 chr14 105864587 105864635 - IGHJ3 IG_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000242888 chr14 99974336 99975149 - AL133368.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242889 chr17 57618108 57618393 + RN7SL449P misc_RNA 0 1 1 0 6 0 0 0 0 ENSG00000242893 chr13 51593919 51594215 - RN7SL413P misc_RNA 1 1 3 1 0 0 0 0 0 ENSG00000242894 chr14 104013642 104013933 + RN7SL634P misc_RNA 1 0 0 0 0 0 0 0 4 ENSG00000242899 chr3 132243528 132244265 - RPL7P16 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000242902 chr7 128850162 128862626 - FLNC-AS1 antisense 110806300 0 0 0 0 1 0 0 0 0 ENSG00000242908 chr3 151751443 151928175 - AADACL2-AS1 antisense 0 0 2 5 0 0 0 0 0 ENSG00000242911 chr3 94935760 94936120 - AC140059.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242912 chr10 114423770 114424067 - RN7SL384P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242915 chr2 28460256 28460361 - SNRPGP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242922 chr12 61775923 61776400 + RPL21P104 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242925 chr3 155485803 155487121 + PLCH1-AS2 antisense 100874036 0 0 0 0 0 0 0 0 0 ENSG00000242928 chr5 149722070 149722372 + RN7SL868P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242931 chr17 76430417 76431124 - RPL7P49 processed_pseudogene 0 0 1 0 1 0 0 1 0 ENSG00000242936 chr4 95644952 95645293 - RPL30P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242941 chr14 68693090 68693583 + RPL12P7 processed_pseudogene 1 0 1 0 1 0 0 0 0 ENSG00000242943 chr1 143487772 143488353 + NKAIN1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242945 chr18 53605254 53605725 - RPL29P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242948 chr7 46781373 46783443 + EPS15P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242950 chr7 92468380 92477986 - ERVW-1 protein_coding Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]. 30816 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0009653, GO:0007520, GO:0006949, GO:0000768, GO:0000768, anatomical structure morphogenesis, myoblast fusion, syncytium formation, syncytium formation by plasma membrane fusion, syncytium formation by plasma membrane fusion, 0 4 0 2 2 11 0 1 0 ENSG00000242951 chr14 75595805 75596206 - AC007182.2 processed_pseudogene 1 2 2 5 4 13 0 0 0 ENSG00000242952 chr14 76634775 76635661 - RPSAP3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242953 chr3 75395404 75395536 - AC139453.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242958 chr8 28810103 28810418 + AC040975.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000242960 chr3 72929044 72929593 + FTH1P23 processed_pseudogene 115 91 105 79 83 53 46 112 70 ENSG00000242963 chr12 130216807 130217157 - AC026336.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242968 chr3 136808551 136809623 - AC096992.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242970 chr8 58588420 58588764 - AC068522.1 processed_pseudogene 8 30 8 428 798 610 521 533 596 ENSG00000242971 chr18 21793883 21794159 + RN7SL233P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242973 chr6 46670444 46688165 - AL591242.1 antisense 101926934 3 0 0 0 0 0 0 0 0 ENSG00000242976 chr5 153755382 153755680 + RN7SL177P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242978 chr7 144434826 144435314 - PPIAP83 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242979 chr5 179933805 179934196 - RPS15AP18 processed_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000242983 chr3 54047749 54048793 - CABYRP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242985 chr18 8471831 8472128 + RN7SL50P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242986 chr12 29658376 29658798 - RPL21P99 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000242989 chr6 15112968 15113221 + RN7SL332P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242990 chr12 57674665 57675250 + RPL13AP23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242991 chr12 17121716 17122460 + RPL7P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242992 chr3 128764466 128765018 - FTH1P4 processed_pseudogene 1 1 9 32 32 38 33 9 8 ENSG00000242993 chr11 95963219 95963624 + AP000870.1 processed_pseudogene 0 0 0 0 5 0 0 0 3 ENSG00000242995 chr14 56683421 56683741 - AL161757.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000242998 chrX 96023360 96023652 + RN7SL379P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000242999 chr11 74845910 74846209 + RN7SL239P misc_RNA 2 2 3 0 8 2 2 2 8 ENSG00000243004 chr7 19918981 20140453 - AC005062.1 sense_overlapping 8 5 12 28 4 21 14 10 15 ENSG00000243005 chr4 24563193 24563461 - RN7SL16P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243007 chr15 72379215 72379710 - RPL12P35 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000243008 chr13 24566873 24597676 + AL359538.1 processed_transcript 1 0 0 1 0 0 2 0 0 ENSG00000243011 chrX 112855874 112856162 + RN7SL266P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243014 chr3 117026698 117027039 + PTMAP8 processed_pseudogene 0 1 0 0 0 0 1 0 0 ENSG00000243015 chr12 93509487 93509768 + RN7SL737P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243016 chr3 127221194 127221881 - AC112482.1 unprocessed_pseudogene 1 0 0 0 1 3 0 1 0 ENSG00000243018 chr7 151249325 151254390 + AC005486.1 antisense 0 0 0 0 3 1 0 0 0 ENSG00000243020 chr12 64867956 64868699 - RPL7P39 processed_pseudogene 1 7 2 0 1 0 7 0 5 ENSG00000243022 chr3 128848673 128849399 - MARK3P3 processed_pseudogene 6 2 0 1 1 8 5 0 6 ENSG00000243023 chr14 58141279 58141660 + UBA52P3 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000243024 chr12 64222337 64397065 + AC012158.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243025 chr3 158609610 158610857 - MTAPP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243027 chr15 50688900 50689193 + RN7SL354P misc_RNA 0 0 0 6 2 0 2 1 0 ENSG00000243029 chr2 65545401 65545696 - RN7SL635P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243033 chr3 143503275 143504273 - GAPDHP47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243035 chr13 77947497 77947772 - RN7SL810P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243038 chr14 50052857 50053569 + AL117692.1 processed_pseudogene 0 1 1 4 1 2 0 1 3 ENSG00000243040 chrY 22308859 22321825 + RBMY2FP transcribed_unprocessed_pseudogene 159162 0 0 0 0 0 0 0 0 0 ENSG00000243044 chr3 162601627 162601792 + AC128716.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243048 chrX 37043023 37043571 - FTH1P18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243049 chr17 2557753 2558094 - RN7SL33P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243050 chr8 57392546 57392882 + RPL30P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243051 chr1 169957942 169958246 - RN7SL269P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243053 chr17 28802444 28802822 + RPL31P58 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243055 chrX 30699998 30724174 - GK-AS1 antisense 455 395 707 228 343 343 313 248 315 ENSG00000243056 chr5 140547666 140549578 + EIF4EBP3 protein_coding This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translation initiation factor that recognizes the mRNA cap structure. Read-through transcription from the neighboring upstream gene (MASK or ANKHD1) generates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Oct 2010]. 8637 GO:0016281, GO:0016020, GO:0005737, eukaryotic translation initiation factor 4F complex, membrane, cytoplasm, GO:0030371, GO:0008190, GO:0005515, translation repressor activity, eukaryotic initiation factor 4E binding, protein binding, GO:0045947, GO:0045947, negative regulation of translational initiation, negative regulation of translational initiation, 10 8 3 9 5 26 9 7 15 ENSG00000243058 chr17 56573040 56573195 + RPL39P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243059 chr15 21102843 21103138 - RN7SL400P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243062 chr1 179730217 179742697 + AL359853.3 lincRNA 148753 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000243063 chr2 88978468 88979081 - IGKV3-7 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000243064 chr21 14236206 14362754 + ABCC13 transcribed_unprocessed_pseudogene This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]. 150000 0 0 0 0 0 0 0 0 0 ENSG00000243066 chr19 14588357 14588656 + RN7SL842P misc_RNA 8 17 10 6 7 14 15 6 16 ENSG00000243069 chr3 154024401 154121332 - ARHGEF26-AS1 processed_transcript 100507524 0 0 0 0 0 0 0 0 0 ENSG00000243071 chr12 76660405 76660884 + AC107032.1 processed_pseudogene 0 3 5 4 1 8 2 2 3 ENSG00000243072 chr3 125679573 125679781 + AF186996.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243073 chr1 12879224 12886201 - PRAMEF4 protein_coding 400735 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000243075 chr12 50841498 50841785 - RN7SL519P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243081 chr3 112396647 112409134 - AC092894.1 lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000243083 chr3 72151257 72207770 + LINC00870 lincRNA 201617 0 0 0 0 0 0 0 0 0 ENSG00000243085 chr9 38526831 38527032 + AL390726.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243089 chr3 99507187 99527113 - AC107029.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000243094 chr15 34085911 34086314 - AC079203.1 processed_pseudogene 4 5 2 2 0 7 0 1 4 ENSG00000243095 chr8 39157538 39158701 - RPL3P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243099 chr7 138688980 138689522 + AC020983.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243101 chr16 78825281 78826006 + RPS3P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243103 chr14 50637691 50637981 - RN7SL452P misc_RNA 0 0 0 0 0 0 5 0 0 ENSG00000243104 chr2 120213344 120213631 + MTND4LP14 processed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000243107 chr7 92200014 92206857 - AC000120.1 sense_overlapping 2 3 4 6 3 11 0 4 8 ENSG00000243115 chr9 12764761 12765055 - RN7SL849P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243116 chr3 159721524 159722401 - AC092943.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243122 chr15 37490691 37491103 + AC016304.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243124 chr6 86435848 86436138 + RN7SL643P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243125 chr2 223248498 223248794 - RN7SL807P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243129 chr12 13021260 13021606 - AC023790.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243130 chr19 43007656 43026512 - PSG11 protein_coding The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]. 5680 GO:0005576, extracellular region, GO:0007565, female pregnancy, 0 0 0 0 0 0 0 0 0 ENSG00000243135 chr2 233729108 233773299 + UGT1A3 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]. 54659 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042803, GO:0019899, GO:0015020, GO:0001972, protein homodimerization activity, enzyme binding, glucuronosyltransferase activity, retinoic acid binding, GO:0052697, GO:0052697, GO:0052696, GO:0052696, GO:0052695, GO:0042573, xenobiotic glucuronidation, xenobiotic glucuronidation, flavonoid glucuronidation, flavonoid glucuronidation, cellular glucuronidation, retinoic acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000243136 chr9 35671776 35672044 + RN7SL22P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243137 chr19 43192702 43207299 - PSG4 protein_coding The protein encoded by this gene is a pregnancy-specific glycoprotein (PSG), one of several encoded by a cluster of similar genes on chromosome 19. This gene is a member of the carcinoembryonic antigen (CEA) gene family and may play a role in regulation of the innate immune system. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 5672 GO:0005576, extracellular region, GO:0007565, female pregnancy, 0 0 0 0 0 0 0 0 0 ENSG00000243141 chr12 12338776 12339254 + RPL23AP66 processed_pseudogene 0 4 0 0 0 0 0 2 0 ENSG00000243144 chr7 91311368 91515409 + AC079760.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000243147 chr2 27771717 27988087 + MRPL33 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 9553 GO:0005762, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0003735, structural constituent of ribosome, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 146 99 107 81 115 103 71 70 66 ENSG00000243149 chr3 65174958 65193499 + LINC02040 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243150 chr3 158545220 158571066 - AC106707.1 antisense 100996447 2 2 3 7 2 11 6 1 6 ENSG00000243154 chr3 154651656 154652423 - SYPL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243155 chr1 180944042 180976482 - AL162431.2 antisense 9 26 8 14 20 20 12 21 12 ENSG00000243156 chr22 17787649 18024559 - MICAL3 protein_coding 57553 GO:0090543, GO:0045171, GO:0042995, GO:0005938, GO:0005886, GO:0005829, GO:0005819, GO:0005654, GO:0005634, Flemming body, intercellular bridge, cell projection, cell cortex, plasma membrane, cytosol, spindle, nucleoplasm, nucleus, GO:0071949, GO:0046872, GO:0031267, GO:0016709, GO:0003779, GO:0003779, FAD binding, metal ion binding, small GTPase binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen, actin binding, actin binding, GO:0055114, GO:0051301, GO:0030042, GO:0030042, GO:0007049, GO:0007010, GO:0006887, oxidation-reduction process, cell division, actin filament depolymerization, actin filament depolymerization, cell cycle, cytoskeleton organization, exocytosis, 21 16 25 32 26 38 33 17 24 ENSG00000243160 chr5 79529302 79530093 + AC093270.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243164 chr12 73648666 73649039 + AC087879.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243165 chr3 158626656 158626849 - AC025033.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000243167 chr19 42670005 42670816 + RPS10P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243171 chr8 105287830 105288365 - AC041039.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243173 chr1 162777730 162778014 + RN7SL861P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243175 chr4 143424753 143426013 + RPSAP36 transcribed_processed_pseudogene 16 21 14 21 37 43 35 33 27 ENSG00000243176 chr3 157175223 157381265 + AC092944.1 processed_transcript 10 3 2 14 12 2 3 5 8 ENSG00000243179 chr2 113979909 113983258 + AC110769.1 lincRNA 3 5 6 2 11 4 7 2 20 ENSG00000243181 chr8 34874159 34874633 + AC087343.1 processed_pseudogene 0 0 0 0 0 1 4 2 2 ENSG00000243187 chr3 180680084 180700449 + CCDC39-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243188 chr3 108325520 108326814 - HNRNPA1P17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243193 chr7 107066591 107133733 - AC006387.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000243195 chr3 103630661 103630912 + TUBBP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243197 chr3 116709235 116723581 + TUSC7 antisense 285194 0 0 0 0 0 0 0 0 0 ENSG00000243199 chr4 65573459 65574328 + AC115223.1 processed_pseudogene 7 8 24 27 7 27 14 3 20 ENSG00000243207 chr19 10106223 10114780 + PPAN-P2RY11 protein_coding This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. [provided by RefSeq, Nov 2010]. 692312 0 0 0 0 0 0 0 0 0 ENSG00000243220 chr7 116563594 116571234 - AC006159.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243224 chr3 52239258 52241097 + AC006252.1 antisense 101929054 7 8 7 7 5 3 0 5 0 ENSG00000243225 chr14 76968683 76969145 + AC007686.1 processed_pseudogene 7 5 5 3 7 5 8 6 3 ENSG00000243227 chr4 109450772 109451068 - RN7SL55P misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000243230 chr7 129209775 129213545 - AC011005.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243232 chr5 140966235 141012344 + PCDHAC2 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56134 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000243234 chr19 57953158 57953759 - AC010326.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243236 chr6 52939726 52957521 - GSTA9P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243238 chr2 89244781 89245596 - IGKV2-30 IG_V_gene 1 2 1 0 19 2 3 26 0 ENSG00000243243 chr7 116237929 116327896 - AC073130.2 antisense 0 0 4 0 3 5 4 1 7 ENSG00000243244 chr2 48529383 48598513 + STON1 protein_coding Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]. 11037 GO:0043231, GO:0031410, GO:0030136, GO:0016020, GO:0008021, intracellular membrane-bounded organelle, cytoplasmic vesicle, clathrin-coated vesicle, membrane, synaptic vesicle, GO:0035615, clathrin adaptor activity, GO:0048488, GO:0030100, GO:0030100, GO:0016192, synaptic vesicle endocytosis, regulation of endocytosis, regulation of endocytosis, vesicle-mediated transport, 22 41 27 52 56 37 42 37 44 ENSG00000243250 chr11 112235371 112236025 - RPS6P16 processed_pseudogene 9 14 17 3 17 18 14 6 7 ENSG00000243254 chr8 99613783 99614081 - RN7SL350P misc_RNA 0 1 0 0 0 0 1 0 0 ENSG00000243256 chr18 61404858 61405205 - RPL30P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243257 chr3 120722458 120722646 + MTCO2P29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243260 chr4 39761000 39761298 + RN7SL558P misc_RNA 0 4 0 1 1 0 0 0 1 ENSG00000243264 chr2 89947512 89948279 + IGKV2D-29 IG_V_gene 0 1 0 7 2 0 0 1 0 ENSG00000243265 chr8 23206918 23207369 + RPL23AP55 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000243267 chr1 10616836 10617115 + RN7SL614P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000243273 chr3 150890636 151038818 + AC020636.1 antisense 11 6 14 5 3 1 6 1 6 ENSG00000243274 chr13 76134931 76135225 + RN7SL571P misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000243276 chr3 118004819 118557668 - AC068633.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243279 chrX 49071156 49074071 - PRAF2 protein_coding 11230 GO:0016021, GO:0016020, GO:0010008, integral component of membrane, membrane, endosome membrane, GO:0005515, protein binding, GO:0015813, GO:0015031, L-glutamate transmembrane transport, protein transport, 90 113 100 93 89 73 65 66 87 ENSG00000243280 chr4 112171215 112171527 + AC093663.2 processed_pseudogene 1 0 2 1 1 0 6 0 0 ENSG00000243284 chr1 159854316 159862657 - VSIG8 protein_coding 391123 GO:0016021, GO:0005622, integral component of membrane, intracellular anatomical structure, GO:0003723, RNA binding, 5 6 2 1 6 5 5 2 1 ENSG00000243287 chr8 108378831 108379545 - RPS17P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243289 chr10 46816516 46832476 + AGAP13P unprocessed_pseudogene 14 1 9 5 10 27 8 1 16 ENSG00000243290 chr2 89040224 89040745 - IGKV1-12 IG_V_gene 1 0 0 0 0 0 5 2 0 ENSG00000243295 chr3 59065150 59119509 + AC114400.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243296 chr3 99500347 99505508 + AC078828.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243297 chr19 36901742 36902117 + RPL31P61 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243302 chr7 128651185 128652334 + AC018638.4 processed_pseudogene 367 383 488 308 515 356 508 282 355 ENSG00000243303 chr18 21854640 21854987 - AC103987.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000243304 chr5 115264669 115265464 - AC008494.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000243305 chr3 152457759 152496813 - AC026347.1 antisense 19 15 15 19 14 17 30 7 18 ENSG00000243307 chr6 26896952 26898777 + POM121L6P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243312 chr4 86870191 86871404 + AC093827.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243313 chr6 37832922 37833185 - RN7SL285P misc_RNA 3 3 7 2 2 12 0 0 4 ENSG00000243314 chr3 158496561 158496934 + AC106707.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243316 chr10 112308181 112356574 - GUCY2GP transcribed_unitary_pseudogene 2 0 0 0 1 0 0 0 0 ENSG00000243317 chr7 135662496 135693418 + STMP1 protein_coding 647087 GO:0016021, GO:0005758, GO:0005746, GO:0005741, integral component of membrane, mitochondrial intermembrane space, mitochondrial respirasome, mitochondrial outer membrane, GO:0005515, protein binding, GO:1900227, GO:0045087, GO:0032731, positive regulation of NLRP3 inflammasome complex assembly, innate immune response, positive regulation of interleukin-1 beta production, 276 260 411 176 257 232 136 243 192 ENSG00000243319 chr13 102292327 102394519 - FGF14-IT1 sense_intronic 283480 0 0 0 0 0 0 0 0 0 ENSG00000243321 chr3 150077494 150080117 - LINC01998 lincRNA 107986046 0 0 0 0 0 0 0 0 0 ENSG00000243323 chr1 202168051 202189455 + PTPRVP transcribed_unitary_pseudogene 148713 4 3 6 0 0 9 2 1 6 ENSG00000243328 chr8 143065915 143066587 - AC083982.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243333 chr5 119306343 119306631 - RN7SL174P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243335 chr7 66628767 66649067 + KCTD7 protein_coding This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]. 154881 GO:0005886, GO:0005886, GO:0005829, GO:0005737, plasma membrane, plasma membrane, cytosol, cytoplasm, GO:0005515, protein binding, GO:0090461, GO:0060081, GO:0051260, GO:0043687, GO:0032411, GO:0030007, glutamate homeostasis, membrane hyperpolarization, protein homooligomerization, post-translational protein modification, positive regulation of transporter activity, cellular potassium ion homeostasis, 371 442 441 604 778 832 879 656 621 ENSG00000243338 chr15 49198900 49199194 - RN7SL307P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243339 chr3 196399911 196400207 + RN7SL738P misc_RNA 3 3 3 3 1 3 4 1 0 ENSG00000243345 chr7 115789729 115791049 + AC093714.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243346 chr17 11157455 11157747 + RN7SL601P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243347 chr3 148195729 148280098 - LINC02045 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243349 chr10 45147394 45171389 + AL358394.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000243352 chr7 104911928 104912193 + RN7SL8P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243353 chr11 113751116 113751286 - RPS29P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243355 chr18 32779039 32779286 + AC012123.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243359 chr3 115837870 115838159 + RN7SL815P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243364 chr1 155063731 155069553 + EFNA4 protein_coding This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. [provided by RefSeq, Jul 2008]. 1945 GO:0031226, GO:0031225, GO:0005886, GO:0005886, GO:0005576, intrinsic component of plasma membrane, anchored component of membrane, plasma membrane, plasma membrane, extracellular region, GO:0046875, GO:0046875, GO:0005515, GO:0005005, ephrin receptor binding, ephrin receptor binding, protein binding, transmembrane-ephrin receptor activity, GO:0048013, GO:0048013, GO:0007411, GO:0007267, ephrin receptor signaling pathway, ephrin receptor signaling pathway, axon guidance, cell-cell signaling, 28 35 32 45 47 53 40 33 17 ENSG00000243365 chr15 76976915 76977210 - RN7SL278P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243366 chr13 98671980 98672278 + RN7SL60P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243368 chr3 183016255 183017808 + MCCC1-AS1 antisense 3 4 1 6 3 12 17 1 7 ENSG00000243370 chr17 17178414 17178749 + RN7SL775P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243373 chr6 158437797 158438088 + RN7SL173P misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000243374 chr7 148438309 148438577 + RN7SL72P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243378 chr3 182691928 182692285 + AC083801.1 processed_pseudogene 1 3 1 0 0 0 0 0 0 ENSG00000243383 chr4 105293664 105293946 + RN7SL89P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243384 chr3 58572744 58574319 + AC119424.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243385 chr5 83201229 83202141 + AC094085.1 processed_pseudogene 2 0 0 4 0 0 0 1 0 ENSG00000243388 chr14 56978409 56979621 + RPL3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243389 chr2 112589040 112614431 + AC012442.2 3prime_overlapping_ncRNA 1 2 0 0 2 7 0 0 0 ENSG00000243396 chr3 101599243 101599644 - AC084198.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243398 chr3 172237326 172237591 + RN7SL141P misc_RNA 0 0 0 2 0 0 5 1 0 ENSG00000243402 chr8 129864478 129865052 + AC022973.1 processed_pseudogene 5 6 13 3 12 4 8 5 6 ENSG00000243403 chr15 64592979 64593326 + AC090543.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243404 chr15 66446455 66446777 - RPL35AP32 processed_pseudogene 3 4 1 3 0 0 0 1 14 ENSG00000243406 chr13 52167709 52194465 - MRPS31P5 transcribed_unprocessed_pseudogene 100887750 1 0 6 2 1 5 0 1 0 ENSG00000243410 chr3 64011964 64016246 + PSMD6-AS1 antisense 7 6 14 9 20 34 13 18 19 ENSG00000243414 chr5 115578650 115602479 - TICAM2 protein_coding TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM, Apr 2004]. 353376 GO:0042995, GO:0031902, GO:0031901, GO:0030667, GO:0030134, GO:0010008, GO:0005886, GO:0005794, GO:0005793, GO:0005783, GO:0001891, cell projection, late endosome membrane, early endosome membrane, secretory granule membrane, COPII-coated ER to Golgi transport vesicle, endosome membrane, plasma membrane, Golgi apparatus, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, phagocytic cup, GO:0005515, protein binding, GO:2000494, GO:0097190, GO:0071222, GO:0070266, GO:0045087, GO:0043312, GO:0043123, GO:0035669, GO:0035666, GO:0034145, GO:0034142, GO:0034128, GO:0007249, GO:0007030, GO:0006954, GO:0006909, GO:0006888, GO:0006886, GO:0002756, positive regulation of interleukin-18-mediated signaling pathway, apoptotic signaling pathway, cellular response to lipopolysaccharide, necroptotic process, innate immune response, neutrophil degranulation, positive regulation of I-kappaB kinase/NF-kappaB signaling, TRAM-dependent toll-like receptor 4 signaling pathway, TRIF-dependent toll-like receptor signaling pathway, positive regulation of toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, negative regulation of MyD88-independent toll-like receptor signaling pathway, I-kappaB kinase/NF-kappaB signaling, Golgi organization, inflammatory response, phagocytosis, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, MyD88-independent toll-like receptor signaling pathway, 6 3 15 0 7 3 3 6 0 ENSG00000243415 chr3 146064042 146105204 + AC107021.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243417 chr4 152551277 152552364 - AC023424.2 processed_pseudogene 18 19 20 18 28 16 24 18 4 ENSG00000243420 chr12 75957833 75958130 - RN7SL734P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243422 chr3 75624275 75670156 - RPL23AP49 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243423 chr17 35076737 35077007 + AC004223.1 processed_pseudogene 0 3 0 0 1 1 1 4 0 ENSG00000243424 chr8 80613544 80613826 - RN7SL107P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243426 chr17 78532813 78533055 - RN7SL454P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243429 chr3 125712139 125713045 + OR7E29P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243431 chr11 118560690 118561580 + RPL5P30 processed_pseudogene 0 0 5 0 2 3 1 0 3 ENSG00000243433 chr7 151028781 151029754 - AC010973.1 antisense 0 1 1 2 3 0 0 0 0 ENSG00000243437 chr1 77645324 77645618 + RN7SL370P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243438 chr7 106315225 106315743 + LARP1BP2 processed_pseudogene 6 5 6 36 27 36 10 16 26 ENSG00000243439 chr6 1507322 1507598 + RN7SL352P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243444 chr9 109640788 109946703 + PALM2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000243445 chr16 2332313 2332732 - AC106820.1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000243446 chr10 77912271 77912545 - RN7SL284P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243449 chr4 2041993 2043970 + C4orf48 protein_coding 401115 GO:0005576, extracellular region, 38 31 34 21 26 14 28 34 34 ENSG00000243455 chr19 18048637 18049090 + RPS18P13 processed_pseudogene 0 0 3 1 0 8 0 0 0 ENSG00000243466 chr2 88947301 88947957 - IGKV1-5 IG_V_gene 2 1 0 3 4 3 18 12 4 ENSG00000243468 chrX 71491682 71492928 - INGX transcribed_processed_pseudogene 27160 1 0 1 5 0 0 0 0 0 ENSG00000243469 chr19 51648862 51649610 + RPL7P51 processed_pseudogene 0 1 1 0 0 0 0 1 1 ENSG00000243477 chr3 50296402 50299421 - NAA80 protein_coding This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]. 24142 GO:0005829, GO:0005737, GO:0005737, cytosol, cytoplasm, cytoplasm, GO:1905502, GO:1905502, GO:0008080, GO:0008080, GO:0004596, acetyl-CoA binding, acetyl-CoA binding, N-acetyltransferase activity, N-acetyltransferase activity, peptide alpha-N-acetyltransferase activity, GO:0030047, GO:0018002, GO:0017190, GO:0008064, GO:0006473, GO:0006473, actin modification, N-terminal peptidyl-glutamic acid acetylation, N-terminal peptidyl-aspartic acid acetylation, regulation of actin polymerization or depolymerization, protein acetylation, protein acetylation, 13 25 38 20 12 22 22 7 8 ENSG00000243478 chr2 200738608 200794239 + AOX2P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243479 chr7 157010805 157016426 + MNX1-AS1 lincRNA 645249 0 0 0 0 0 0 0 0 0 ENSG00000243480 chr1 103616811 103625780 + AMY2A protein_coding This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]. 279 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0103025, GO:0031404, GO:0005509, GO:0004556, alpha-amylase activity (releasing maltohexaose), chloride ion binding, calcium ion binding, alpha-amylase activity, GO:0044245, GO:0016052, GO:0005975, polysaccharide digestion, carbohydrate catabolic process, carbohydrate metabolic process, 2 0 1 1 0 3 2 0 0 ENSG00000243483 chr3 113041390 113041814 - AC078785.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243485 chr1 29554 31109 + MIR1302-2HG lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243486 chr3 153881526 153940836 + AC068985.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243488 chr19 14584095 14584395 + RN7SL337P misc_RNA 4 4 3 3 6 9 10 6 8 ENSG00000243489 chr21 44646414 44647650 + KRTAP10-11 protein_coding 386678 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 1 0 3 0 ENSG00000243491 chr2 9757496 9770341 - AC082651.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243494 chr19 54973817 54974417 + AC011476.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243495 chr3 100665050 100665476 - GMFBP1 processed_pseudogene 0 0 0 0 1 0 1 0 0 ENSG00000243498 chr8 123236852 123237062 + UBA52P5 processed_pseudogene 2 0 0 0 0 0 0 0 2 ENSG00000243499 chr12 131667492 131668246 + RPS6P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243501 chr6 73209746 73263196 - AL365232.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000243503 chr8 36987977 36988412 - AC090453.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243504 chr8 97865054 97865485 + RPS23P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243505 chr11 29721399 29721684 - RN7SL240P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243507 chr12 3468950 3469296 + AC005908.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243508 chr3 125344085 125344797 - AC108688.1 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000243509 chr20 63696651 63698684 + TNFRSF6B protein_coding This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript. [provided by RefSeq, Feb 2011]. 8771 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0038023, GO:0005515, signaling receptor activity, protein binding, GO:0043066, GO:0033209, GO:0006915, negative regulation of apoptotic process, tumor necrosis factor-mediated signaling pathway, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000243510 chr2 118016385 118016669 + RN7SL111P misc_RNA 0 0 0 0 0 0 0 0 2 ENSG00000243514 chr17 72627231 72627624 + RPL32P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243516 chr18 37672689 37673176 + RPL12P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243517 chr12 31251992 31252597 - AC024940.2 processed_pseudogene 1 1 3 9 2 5 6 4 1 ENSG00000243518 chr3 155401329 155403399 - AC108729.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243519 chr22 32376682 32377135 + IGLVIVOR22-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243521 chr17 50847950 50849270 + RPL5P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243531 chr7 6900424 6900623 - AC079804.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243532 chr8 70654578 70654883 - RN7SL19P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243537 chr8 133325997 133326404 + KC877373.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243538 chr5 16902294 16902641 - RPS26P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243539 chr1 12036740 12037014 - RN7SL649P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243541 chr2 15950689 15950981 - RN7SL104P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243543 chr20 45534196 45539495 - WFDC6 protein_coding This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Read-through transcription exists between this gene and the upstream SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) gene. [provided by RefSeq, Nov 2010]. 140870 0 0 0 0 0 0 0 0 0 ENSG00000243544 chr3 121653994 121654296 - RN7SL172P misc_RNA 71 72 67 50 79 58 71 46 71 ENSG00000243546 chr14 68236243 68236539 - RN7SL108P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243547 chr3 96349554 96350939 + HNRNPKP4 processed_pseudogene 85 122 104 36 33 34 61 45 48 ENSG00000243548 chr4 28711198 28711476 + RN7SL101P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243549 chr18 62650308 62650601 - RN7SL705P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243550 chr3 150265412 150287373 - LINC01214 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243554 chr7 97969005 97972254 - AC004967.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 8 2 0 0 ENSG00000243560 chr19 46688797 46689068 - RN7SL364P misc_RNA 7 8 5 18 11 15 4 3 12 ENSG00000243562 chr11 440399 440693 - RN7SL838P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243566 chr7 76510428 76516521 + UPK3B protein_coding UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM, Mar 2008]. 105375355 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0010629, negative regulation of gene expression, 11 0 6 6 2 0 4 3 3 ENSG00000243568 chr15 72134641 72135436 + AC020779.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243572 chr3 55178172 55189214 + LINC02017 lincRNA 105377096 0 0 0 0 0 0 0 0 0 ENSG00000243574 chr7 124274679 124287544 - AC006148.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243581 chr19 39590981 39591151 + RPS29P25 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000243584 chr3 183613620 183616742 + AC068769.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243591 chr18 6601540 6601836 + RN7SL282P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243592 chr5 56136979 56137531 + RPL17P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243593 chr3 120833440 120836360 - LINC02049 lincRNA 101926983 0 0 0 0 0 0 0 0 0 ENSG00000243596 chr3 146342996 146348480 - AC130509.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243601 chr8 105737280 105737765 - RPL12P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243607 chr11 126278257 126278577 - RPL35AP26 processed_pseudogene 4 0 8 1 6 4 3 4 2 ENSG00000243609 chr16 48577524 48578369 - RPS2P44 processed_pseudogene 5 7 12 3 12 24 7 10 20 ENSG00000243613 chr1 153746851 153751227 - AL513523.4 antisense 19 9 29 0 6 1 1 15 0 ENSG00000243620 chr3 146909685 147370656 - AC092957.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243621 chr7 111394875 111395043 + AC003989.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243627 chr21 34418715 34423966 - SMIM34A protein_coding 388820 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000243629 chr3 157081667 157123004 - LINC00880 lincRNA 339894 0 1 0 4 1 0 6 1 0 ENSG00000243633 chr7 21215537 21215830 - RN7SL542P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243635 chr3 104502700 104503266 + AC091804.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243636 chr1 207179296 207184062 + AL445493.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243641 chr9 36002909 36003867 - OR13C7 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243642 chr19 58069970 58070288 + RN7SL526P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243643 chrY 10036195 10038375 + TSPY20P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243646 chr21 33266358 33310187 + IL10RB protein_coding The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]. 3588 GO:0032002, GO:0016021, GO:0005886, GO:0005886, interleukin-28 receptor complex, integral component of membrane, plasma membrane, plasma membrane, GO:0038023, GO:0005515, GO:0004920, GO:0004920, GO:0004896, signaling receptor activity, protein binding, interleukin-10 receptor activity, interleukin-10 receptor activity, cytokine receptor activity, GO:0051607, GO:0046427, GO:0019221, GO:0019221, GO:0007165, GO:0006955, GO:0006954, defense response to virus, positive regulation of receptor signaling pathway via JAK-STAT, cytokine-mediated signaling pathway, cytokine-mediated signaling pathway, signal transduction, immune response, inflammatory response, 138 93 135 113 128 149 139 99 109 ENSG00000243648 chr5 134422838 134423335 + AC109454.1 processed_pseudogene 1 3 1 12 25 11 11 5 18 ENSG00000243649 chr6 31945650 31952084 + CFB protein_coding This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]. 629 GO:0072562, GO:0070062, GO:0005886, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, plasma membrane, extracellular space, extracellular region, GO:0005515, GO:0004252, GO:0001848, protein binding, serine-type endopeptidase activity, complement binding, GO:0030449, GO:0006957, GO:0006957, GO:0006956, GO:0006508, regulation of complement activation, complement activation, alternative pathway, complement activation, alternative pathway, complement activation, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000243650 chr2 230507101 230507386 + RN7SL834P misc_RNA 32 20 33 27 48 61 27 30 33 ENSG00000243655 chr17 22524563 22525330 - AC132825.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243658 chr3 106898889 106900591 + MTND5P16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243659 chr1 27311240 27311838 + FO393419.3 processed_pseudogene 2 1 6 11 6 13 5 3 2 ENSG00000243660 chr10 43436841 43483179 + ZNF487 protein_coding 642819 GO:0000785, GO:0000785, chromatin, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 217 197 228 152 259 180 165 237 246 ENSG00000243661 chr7 142778642 142779537 - WBP1LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243663 chr12 1757231 1758011 - RPS4XP14 processed_pseudogene 3 3 2 4 0 8 2 0 5 ENSG00000243664 chr5 180945756 180945907 + RPS29P12 processed_pseudogene 13 11 27 5 9 14 20 2 13 ENSG00000243667 chr2 68122936 68157560 - WDR92 protein_coding This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. 116143 GO:0043130, GO:0005515, ubiquitin binding, protein binding, GO:0006915, apoptotic process, 1 0 4 2 1 0 14 1 6 ENSG00000243669 chr11 123035867 123036224 + RPL34P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243671 chr13 68693804 68694081 - RN7SL761P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243672 chr11 67925651 67926431 - RPS3AP40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243674 chr3 75347833 75348787 - OR7E66P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243675 chr3 158763431 158763753 + AC080013.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243678 chr17 51165435 51171747 + NME2 protein_coding Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010]. 4831 GO:1904813, GO:0071944, GO:0070062, GO:0048471, GO:0034774, GO:0031966, GO:0030027, GO:0005925, GO:0005882, GO:0005829, GO:0005737, GO:0005634, GO:0005576, GO:0001726, ficolin-1-rich granule lumen, cell periphery, extracellular exosome, perinuclear region of cytoplasm, secretory granule lumen, mitochondrial membrane, lamellipodium, focal adhesion, intermediate filament, cytosol, cytoplasm, nucleus, extracellular region, ruffle, GO:0051880, GO:0046872, GO:0042802, GO:0019899, GO:0019215, GO:0019003, GO:0008144, GO:0005524, GO:0005515, GO:0005504, GO:0004674, GO:0004673, GO:0004550, GO:0004550, GO:0003713, GO:0003677, G-quadruplex DNA binding, metal ion binding, identical protein binding, enzyme binding, intermediate filament binding, GDP binding, drug binding, ATP binding, protein binding, fatty acid binding, protein serine/threonine kinase activity, protein histidine kinase activity, nucleoside diphosphate kinase activity, nucleoside diphosphate kinase activity, transcription coactivator activity, DNA binding, GO:0071398, GO:0071333, GO:0060416, GO:0050679, GO:0046777, GO:0045944, GO:0045893, GO:0045893, GO:0045682, GO:0045618, GO:0043312, GO:0043066, GO:0042981, GO:0034599, GO:0018106, GO:0015949, GO:0010976, GO:0009142, GO:0007229, GO:0007189, GO:0007155, GO:0006241, GO:0006228, GO:0006183, GO:0006165, GO:0002762, cellular response to fatty acid, cellular response to glucose stimulus, response to growth hormone, positive regulation of epithelial cell proliferation, protein autophosphorylation, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, regulation of epidermis development, positive regulation of keratinocyte differentiation, neutrophil degranulation, negative regulation of apoptotic process, regulation of apoptotic process, cellular response to oxidative stress, peptidyl-histidine phosphorylation, nucleobase-containing small molecule interconversion, positive regulation of neuron projection development, nucleoside triphosphate biosynthetic process, integrin-mediated signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, cell adhesion, CTP biosynthetic process, UTP biosynthetic process, GTP biosynthetic process, nucleoside diphosphate phosphorylation, negative regulation of myeloid leukocyte differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000243679 chr7 128653969 128654722 + AC018638.5 processed_pseudogene 326 404 422 454 623 512 467 410 376 ENSG00000243680 chr19 52143043 52143336 + RPL37P23 processed_pseudogene 1 0 2 1 0 3 0 0 0 ENSG00000243686 chr17 16044621 16044961 + RPLP1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243687 chr3 160342685 160343015 + AC079594.1 processed_pseudogene 1 1 1 0 2 1 0 0 4 ENSG00000243694 chr3 80993868 81095647 + LINC02027 lincRNA 728290 0 0 0 0 0 0 0 0 0 ENSG00000243695 chr9 39173794 39174513 - AL353729.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243696 chr3 52813282 52835729 - AC006254.1 protein_coding 1 11 18 6 9 17 6 3 7 ENSG00000243697 chr16 86525457 86526252 + AC009108.1 processed_pseudogene 0 1 0 1 16 0 0 0 0 ENSG00000243700 chr14 58179771 58180064 + RN7SL598P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243701 chr3 107240692 107326964 + DUBR lincRNA 344595 1 0 1 3 0 6 1 0 0 ENSG00000243702 chr20 18592330 18592619 + RN7SL638P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243704 chr17 1604374 1604672 - RN7SL105P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243705 chr16 87268185 87268337 + AC010531.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243708 chr15 41837775 41848147 + PLA2G4B protein_coding This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008]. 100137049 GO:0031901, GO:0005829, GO:0005829, GO:0005829, GO:0005743, GO:0005576, early endosome membrane, cytosol, cytosol, cytosol, mitochondrial inner membrane, extracellular region, GO:0102568, GO:0102567, GO:0047498, GO:0047498, GO:0005544, GO:0005544, GO:0005509, GO:0005509, GO:0004623, GO:0004622, phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine), phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine), calcium-dependent phospholipase A2 activity, calcium-dependent phospholipase A2 activity, calcium-dependent phospholipid binding, calcium-dependent phospholipid binding, calcium ion binding, calcium ion binding, phospholipase A2 activity, lysophospholipase activity, GO:0046475, GO:0046475, GO:0036498, GO:0036152, GO:0036151, GO:0036150, GO:0036148, GO:0019722, GO:0019369, GO:0007567, GO:0006954, GO:0006654, GO:0006644, glycerophospholipid catabolic process, glycerophospholipid catabolic process, IRE1-mediated unfolded protein response, phosphatidylethanolamine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylglycerol acyl-chain remodeling, calcium-mediated signaling, arachidonic acid metabolic process, parturition, inflammatory response, phosphatidic acid biosynthetic process, phospholipid metabolic process, 7 3 4 3 13 6 10 4 1 ENSG00000243709 chr1 225886282 225911382 - LEFTY1 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Aug 2016]. 10637 GO:0005615, extracellular space, GO:0008083, GO:0005160, GO:0005125, growth factor activity, transforming growth factor beta receptor binding, cytokine activity, GO:0060395, GO:0030509, GO:0010862, GO:0007368, GO:0007179, GO:0003007, GO:0000122, SMAD protein signal transduction, BMP signaling pathway, positive regulation of pathway-restricted SMAD protein phosphorylation, determination of left/right symmetry, transforming growth factor beta receptor signaling pathway, heart morphogenesis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000243710 chr1 43172149 43254358 + CFAP57 protein_coding This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 149465 2 2 1 14 6 11 5 3 7 ENSG00000243711 chr15 78863247 78863729 - RPL21P116 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000243715 chr3 54874605 54901255 - CACNA2D3-AS1 antisense 100874237 0 0 0 0 0 0 0 0 0 ENSG00000243716 chr16 22479121 22536521 + NPIPB5 protein_coding 100132247 GO:0016021, GO:0005654, GO:0005654, integral component of membrane, nucleoplasm, nucleoplasm, 633 902 906 1334 1712 1687 1369 1040 1312 ENSG00000243720 chr18 3406342 3406818 - RPL21P127 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243721 chr11 43718676 43719146 + RPL23AP63 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243723 chr2 158447166 158447461 - RN7SL393P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243725 chr1 54715822 54742657 + TTC4 protein_coding This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]. 7268 GO:0005737, GO:0005654, GO:0005634, cytoplasm, nucleoplasm, nucleus, GO:0051879, GO:0005515, Hsp90 protein binding, protein binding, GO:0051607, GO:0045087, defense response to virus, innate immune response, 1 0 0 0 0 0 0 0 0 ENSG00000243729 chr6 29353749 29431967 - OR5V1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81696 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000243730 chr14 36577543 36578005 - RPL29P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243733 chr3 143111802 143112359 + AC018450.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243738 chr9 121203159 121203435 + RN7SL181P misc_RNA 1 0 0 0 0 0 0 0 2 ENSG00000243742 chr11 61615036 61639449 + RPLP0P2 transcribed_processed_pseudogene 113157 0 0 0 0 0 0 0 0 0 ENSG00000243744 chr5 13637919 13638381 - AC016546.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243746 chr7 144647186 144648575 - EEF1A1P10 processed_pseudogene 11 0 5 8 10 3 8 6 3 ENSG00000243749 chr1 34981535 34985353 - TMEM35B protein_coding 100506144 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000243753 chr6 30259584 30293014 + HLA-L transcribed_unprocessed_pseudogene 3139 0 0 0 0 0 0 0 0 0 ENSG00000243758 chr5 117301104 117301442 - RPL35AP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243759 chr3 143517123 143518229 - ST13P15 processed_pseudogene 0 0 0 0 3 4 1 1 1 ENSG00000243761 chr8 86043102 86043507 + AC023194.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243762 chr22 20110821 20111875 - AC006547.2 antisense 9 13 18 36 29 27 36 17 38 ENSG00000243766 chr7 27198575 27207259 + HOTTIP antisense 0 0 0 0 0 0 0 0 0 ENSG00000243770 chr2 174240143 174240457 - RN7SL65P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243771 chr19 17589595 17590071 - AC010618.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243772 chr19 54738515 54753052 + KIR2DL3 protein_coding Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]. 3804 GO:0016021, GO:0005887, GO:0005886, integral component of membrane, integral component of plasma membrane, plasma membrane, GO:0042802, GO:0038023, GO:0005515, GO:0003823, identical protein binding, signaling receptor activity, protein binding, antigen binding, GO:0050776, GO:0006955, regulation of immune response, immune response, 0 1 0 0 0 0 0 0 0 ENSG00000243775 chr6 158841117 158857632 - OSTCP1 transcribed_processed_pseudogene 202459 0 0 0 2 0 0 0 0 0 ENSG00000243777 chr11 102295060 102295806 + AP000942.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243779 chr18 13919603 13919923 - AP001086.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243780 chr15 59525422 59525881 - AC092754.2 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000243781 chr1 237926831 237927605 + AL590396.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243782 chr10 87832818 87833098 - RN7SL78P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243789 chr15 41828085 41837581 + JMJD7 protein_coding This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]. 100137047 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0035064, GO:0016706, GO:0005515, GO:0004497, GO:0004177, GO:0004175, metal ion binding, methylated histone binding, 2-oxoglutarate-dependent dioxygenase activity, protein binding, monooxygenase activity, aminopeptidase activity, endopeptidase activity, GO:0055114, GO:0018126, GO:0006508, oxidation-reduction process, protein hydroxylation, proteolysis, 2 4 1 0 3 3 4 0 0 ENSG00000243792 chr2 158853755 158854576 + OR7E89P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243794 chr3 75521803 75522012 + SNRPCP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243795 chr3 113142350 113167819 - LINC02044 lincRNA 101929717 0 1 0 1 0 0 0 0 0 ENSG00000243797 chr7 106372251 106770207 - AC004917.1 sense_overlapping 22 21 21 26 26 41 35 39 13 ENSG00000243799 chr3 179875376 179881609 + PEX5L-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243801 chr14 56824375 56824656 - RN7SL461P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243802 chr11 47191181 47191542 - AC090589.1 processed_pseudogene 0 0 0 1 0 2 1 0 0 ENSG00000243806 chr5 94825961 94826694 - RPL7P18 processed_pseudogene 2 1 4 4 3 6 8 8 3 ENSG00000243810 chr20 20258407 20267809 - AL121721.1 antisense 0 1 0 0 2 0 0 0 0 ENSG00000243811 chr22 39021113 39033276 + APOBEC3D protein_coding This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]. 140564 GO:0005737, GO:0005737, GO:0005634, GO:0000932, GO:0000932, cytoplasm, cytoplasm, nucleus, P-body, P-body, GO:0047844, GO:0008270, GO:0004126, GO:0003723, deoxycytidine deaminase activity, zinc ion binding, cytidine deaminase activity, RNA binding, GO:0080111, GO:0070383, GO:0070383, GO:0051607, GO:0051607, GO:0045869, GO:0045869, GO:0045087, GO:0016554, GO:0010529, GO:0010529, GO:0009972, DNA demethylation, DNA cytosine deamination, DNA cytosine deamination, defense response to virus, defense response to virus, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, innate immune response, cytidine to uridine editing, negative regulation of transposition, negative regulation of transposition, cytidine deamination, 2 1 6 7 2 5 9 1 4 ENSG00000243813 chr3 121099108 121099774 + AC078857.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243817 chr14 20963579 20963867 + RN7SL189P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243818 chr3 142926675 142942534 + AC021074.3 antisense 100507389 0 0 0 0 0 0 0 0 0 ENSG00000243819 chr2 10690344 10692099 + RN7SL832P lincRNA 0 1 1 0 5 1 13 1 1 ENSG00000243822 chr3 149357169 149357545 - AC073522.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243824 chr14 34740336 34740833 - RPL12P6 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000243828 chr6 64728837 64733837 - AL355357.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243829 chr19 49719498 49720081 - AC011495.1 processed_pseudogene 1376 1427 2020 1094 1482 1767 991 1461 1656 ENSG00000243830 chr12 8460618 8461232 + AC092865.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000243831 chr6 160666228 160676523 - AL109933.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243832 chr3 134055256 134057648 - LINC02000 lincRNA 100507210 0 0 0 0 0 0 0 0 0 ENSG00000243836 chr7 151409161 151413354 + WDR86-AS1 processed_transcript 100131176 13 7 9 33 8 9 29 6 13 ENSG00000243838 chr3 161328924 161330238 - PSMC1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243844 chr8 29632091 29632644 + RPL17P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243845 chr9 125512902 125513207 - RN7SL30P misc_RNA 0 0 0 0 0 0 2 0 1 ENSG00000243847 chr2 23996795 23997085 - RN7SL610P misc_RNA 0 0 0 0 0 3 0 0 0 ENSG00000243849 chr3 113403991 113433992 + CFAP44-AS1 antisense 100874029 4 7 8 6 5 0 7 6 4 ENSG00000243853 chr7 150541754 150542098 - ALDH7A1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243854 chr12 19303480 19303775 + RN7SL67P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243855 chr14 30791098 30791489 + RPL12P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243856 chr18 74227506 74227803 + RN7SL551P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243859 chr5 85464434 85465310 + RPL5P17 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000243861 chr3 154511535 154539309 - AC092994.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243864 chr19 33340686 33341984 + RPS3AP50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243870 chr17 78370852 78371135 - RN7SL236P misc_RNA 4 3 3 0 6 20 2 3 3 ENSG00000243871 chr15 43391384 43391727 - RN7SL487P misc_RNA 0 0 1 0 3 0 0 0 0 ENSG00000243872 chr1 220571739 220572035 - RN7SL464P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243873 chr3 70753854 70754573 + HMGB1P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243877 chr3 79957566 79958142 - HMGB1P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243883 chr4 153381729 153382015 - RN7SL419P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243885 chr3 149384179 149385800 - AC108751.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243886 chr3 137535572 137536142 - AC117440.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243888 chr9 69428248 69428721 - AL355140.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000243889 chr7 142358639 142358917 + TRBV8-1 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243894 chr4 4076711 4077491 - AC116562.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243896 chr7 144257663 144264792 - OR2A7 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 401427 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 3 4 4 3 0 2 3 2 3 ENSG00000243900 chr13 51469753 51470047 + RN7SL320P misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000243902 chr22 37339583 37427445 - ELFN2 sense_overlapping 114794 GO:0031012, GO:0016021, GO:0005615, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, extracellular space, GO:0004864, protein phosphatase inhibitor activity, GO:0032515, GO:0010923, negative regulation of phosphoprotein phosphatase activity, negative regulation of phosphatase activity, 0 0 0 0 0 6 0 0 0 ENSG00000243903 chr3 59380024 59388704 - AC138057.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243904 chr14 103374033 103374916 - RPSAP5 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000243905 chr1 26593243 26593546 - RN7SL679P misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000243910 chr2 219253243 219272188 + TUBA4B protein_coding 80086 GO:0005874, GO:0005737, GO:0005575, microtubule, cytoplasm, cellular_component, GO:0005525, GO:0005200, GO:0003924, GO:0003674, GTP binding, structural constituent of cytoskeleton, GTPase activity, molecular_function, GO:0008150, GO:0000278, GO:0000226, biological_process, mitotic cell cycle, microtubule cytoskeleton organization, 4 3 6 10 8 44 15 5 26 ENSG00000243911 chr9 112272596 112272837 - RN7SL430P misc_RNA 1 1 0 0 0 0 0 0 0 ENSG00000243914 chr5 31847271 31848148 + RPL5P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243915 chr3 86012561 86015120 + THAP12P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243916 chr12 15439527 15440401 + AC092183.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243918 chr3 122660613 122662438 + EIF4BP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243920 chr4 57352999 57353329 - RPS26P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243925 chr18 26098839 26099226 + RPS24P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243926 chr3 156671862 156674378 - TIPARP-AS1 bidirectional_promoter_lncRNA 2 0 0 3 5 6 0 0 0 ENSG00000243927 chr21 34073224 34143034 + MRPS6 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]. 64968 GO:0015935, GO:0005763, GO:0005763, GO:0005763, GO:0005743, GO:0005739, small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial small ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0070181, GO:0005515, GO:0003735, GO:0003735, GO:0003735, small ribosomal subunit rRNA binding, protein binding, structural constituent of ribosome, structural constituent of ribosome, structural constituent of ribosome, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 110 142 186 110 221 186 112 191 197 ENSG00000243929 chr4 51978079 51978372 - AC104784.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243930 chr11 112218326 112218720 + RPS12P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243939 chr8 104981164 104981579 - AC090142.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243943 chr2 27582969 27623215 + ZNF512 protein_coding This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]. 84450 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, 76 102 144 108 119 80 132 63 93 ENSG00000243944 chr3 150039214 150213726 + AC117386.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000243945 chr3 109977540 109977767 - AC078918.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243951 chr8 80776666 80776962 - RN7SL308P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243953 chr3 154969283 154970223 - AC073359.1 lincRNA 2 6 4 5 9 1 9 2 0 ENSG00000243954 chr16 8683254 8683551 + RN7SL743P misc_RNA 0 0 0 2 0 0 0 0 0 ENSG00000243955 chr6 52791664 52803910 - GSTA1 protein_coding This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 2938 GO:0070062, GO:0005829, GO:0005829, GO:0005829, extracellular exosome, cytosol, cytosol, cytosol, GO:0005504, GO:0004769, GO:0004602, GO:0004364, GO:0004364, GO:0004364, fatty acid binding, steroid delta-isomerase activity, glutathione peroxidase activity, glutathione transferase activity, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:1901687, GO:0098869, GO:0055114, GO:0043651, GO:0030855, GO:0006805, GO:0006749, GO:0006749, GO:0006693, glutathione derivative biosynthetic process, glutathione derivative biosynthetic process, cellular oxidant detoxification, oxidation-reduction process, linoleic acid metabolic process, epithelial cell differentiation, xenobiotic metabolic process, glutathione metabolic process, glutathione metabolic process, prostaglandin metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000243957 chr3 78115158 78115457 + RN7SL647P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243959 chr5 176547433 176547726 - RN7SL684P misc_RNA 1 1 2 1 7 1 0 1 1 ENSG00000243960 chr1 111438638 111441364 - AL390195.1 sense_overlapping 1 2 0 0 0 1 6 0 0 ENSG00000243961 chr20 9986088 10007116 + PARAL1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000243964 chr11 9606142 9606609 + RPL23AP65 processed_pseudogene 0 0 0 2 2 0 0 0 1 ENSG00000243967 chr1 108375838 108410814 + NBPF5P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243968 chr19 35881890 35882153 + RN7SL402P misc_RNA 2 1 0 8 2 11 6 8 4 ENSG00000243969 chr3 154827016 154861017 - AC073359.2 lincRNA 0 0 1 4 0 3 0 0 2 ENSG00000243970 chr1 39522280 39559671 - PPIEL transcribed_unprocessed_pseudogene This transcribed pseudogene is related to PPIE (Gene ID: 10450). Expression of this pseudogene may be downregulated in non-small cell lung cancer (NSCLC). Differential DNA methylation of this locus may be associated with intellectual disability and bipolar disorder in human patients. [provided by RefSeq, Sep 2016]. 728448 7 11 20 46 17 50 13 12 24 ENSG00000243974 chr3 100225374 100226073 + VTI1BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243976 chr14 100319073 100319370 - RN7SL523P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243977 chr3 179649494 179650200 - AC125604.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243978 chrX 110358816 110456334 + RTL9 protein_coding 57529 0 0 0 0 0 0 0 0 0 ENSG00000243979 chr8 94891239 94892107 + AC087752.1 processed_pseudogene 0 0 0 2 2 0 0 1 0 ENSG00000243980 chrY 12273473 12273764 + RN7SL702P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243981 chr7 57628479 57645189 - AC064862.6 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243986 chr3 124862094 124863317 - ENO1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000243988 chr16 56906534 56906956 + RPS24P17 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000243989 chr3 51983278 51989202 + ACY1 protein_coding This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]. 95 GO:0070062, GO:0070062, GO:0005829, extracellular exosome, extracellular exosome, cytosol, GO:0046872, GO:0042802, GO:0005515, GO:0004046, metal ion binding, identical protein binding, protein binding, aminoacylase activity, GO:0006805, GO:0006520, xenobiotic metabolic process, cellular amino acid metabolic process, 0 0 0 1 0 2 0 0 0 ENSG00000243991 chr3 193740471 193740715 - RN7SL447P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000243995 chr20 45230868 45233331 + AL035660.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244000 chrY 23017063 23017821 + AC006366.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244002 chr4 80161129 80162011 + RPSAP39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244003 chr16 58770524 58770820 + RN7SL143P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244004 chr4 9563171 9563950 + AC097493.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244005 chr20 35668055 35699359 - NFS1 protein_coding Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]. 9054 GO:0005829, GO:0005829, GO:0005829, GO:0005759, GO:0005759, GO:0005739, GO:0005739, GO:0005654, GO:0005634, GO:0005634, cytosol, cytosol, cytosol, mitochondrial matrix, mitochondrial matrix, mitochondrion, mitochondrion, nucleoplasm, nucleus, nucleus, GO:0051536, GO:0046872, GO:0042803, GO:0031071, GO:0031071, GO:0031071, GO:0030170, GO:0005515, iron-sulfur cluster binding, metal ion binding, protein homodimerization activity, cysteine desulfurase activity, cysteine desulfurase activity, cysteine desulfurase activity, pyridoxal phosphate binding, protein binding, GO:0044571, GO:0044281, GO:0032324, GO:0018283, GO:0016226, GO:0006777, [2Fe-2S] cluster assembly, small molecule metabolic process, molybdopterin cofactor biosynthetic process, iron incorporation into metallo-sulfur cluster, iron-sulfur cluster assembly, Mo-molybdopterin cofactor biosynthetic process, 26 30 29 56 42 28 65 36 18 ENSG00000244006 chrX 64210691 64210988 + RN7SL799P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244009 chr3 160452598 160453403 + B3GAT3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244018 chr8 18774547 18774918 - RPL35P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244019 chr5 77545397 77546266 + RPS2P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244020 chr1 237004103 237004418 - MT1HL1 protein_coding This gene is a retrotransposed gene, compared to MT1H (GeneID:4496). This retrogene is transcribed. It retains a full-length CDS, and is assumed to be translated. Compared to the MT1H product, this protein product differs at three internal amino acids, two of which are at metal-binding sites. [provided by RefSeq, Mar 2013]. 645745 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, metal ion binding, GO:0071294, GO:0071280, GO:0071276, GO:0010273, GO:0006882, cellular response to zinc ion, cellular response to copper ion, cellular response to cadmium ion, detoxification of copper ion, cellular zinc ion homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000244021 chr4 127812720 127813200 - AC093591.1 processed_pseudogene 0 0 0 0 0 0 1 0 1 ENSG00000244024 chr3 145523538 145524415 + LARP7P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244025 chr21 30491464 30491985 - KRTAP19-3 protein_coding 337970 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000244026 chr3 75421552 75435110 - FAM86DP transcribed_unprocessed_pseudogene 692099 2 2 3 11 0 7 12 1 3 ENSG00000244031 chr4 29962644 29963758 - RPS3AP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244033 chr8 117017946 117018248 + RN7SL228P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244034 chr4 55063738 55064026 + RN7SL424P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244036 chr7 129953234 130026989 + AC073320.1 antisense 1 0 5 8 7 4 8 5 5 ENSG00000244038 chr1 20651767 20661544 - DDOST protein_coding This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]. 1650 GO:0043231, GO:0035577, GO:0016021, GO:0016020, GO:0008250, GO:0008250, GO:0008250, GO:0005886, GO:0005789, GO:0005783, intracellular membrane-bounded organelle, azurophil granule membrane, integral component of membrane, membrane, oligosaccharyltransferase complex, oligosaccharyltransferase complex, oligosaccharyltransferase complex, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0008047, GO:0005515, enzyme activator activity, protein binding, GO:0043312, GO:0043085, GO:0042110, GO:0034097, GO:0031647, GO:0018279, GO:0018279, GO:0018279, GO:0006487, GO:0006487, GO:0006486, neutrophil degranulation, positive regulation of catalytic activity, T cell activation, response to cytokine, regulation of protein stability, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation via asparagine, protein N-linked glycosylation, protein N-linked glycosylation, protein glycosylation, 243 174 274 169 160 334 161 147 171 ENSG00000244039 chr3 169931998 169933229 + AC008040.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244040 chr3 159909382 160225299 - IL12A-AS1 antisense 101928376 0 0 0 0 0 0 3 0 0 ENSG00000244041 chr6 2987967 2991173 + LINC01011 lincRNA 401232 7 8 8 2 13 11 8 9 10 ENSG00000244043 chr16 59088837 59089091 + RPS27P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244044 chr17 66364029 66364320 + RN7SL735P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244045 chr17 28357581 28363683 + TMEM199 protein_coding The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]. 147007 GO:0033116, GO:0030663, GO:0016471, GO:0016021, GO:0012505, GO:0005789, GO:0005783, GO:0005764, endoplasmic reticulum-Golgi intermediate compartment membrane, COPI-coated vesicle membrane, vacuolar proton-transporting V-type ATPase complex, integral component of membrane, endomembrane system, endoplasmic reticulum membrane, endoplasmic reticulum, lysosome, GO:0005515, protein binding, GO:1905146, GO:0070072, GO:0036295, GO:0007042, GO:0006879, lysosomal protein catabolic process, vacuolar proton-transporting V-type ATPase complex assembly, cellular response to increased oxygen levels, lysosomal lumen acidification, cellular iron ion homeostasis, 111 117 158 86 132 98 55 122 67 ENSG00000244048 chr3 95171920 95172377 + RPS18P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244050 chr12 8199599 8218911 - DEFB109F transcribed_unprocessed_pseudogene 1 0 2 0 1 3 0 0 5 ENSG00000244052 chr8 102923371 102924255 - RPL5P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244053 chr14 47200575 47201104 - RPL13AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244055 chr7 92457564 92491610 + AC007566.1 antisense 9 9 15 20 16 43 17 13 9 ENSG00000244056 chr15 84394072 84394336 + RN7SL417P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244057 chr1 152600662 152601086 + LCE3C protein_coding 353144 GO:0005515, protein binding, GO:0050830, GO:0050829, GO:0031640, GO:0031424, defense response to Gram-positive bacterium, defense response to Gram-negative bacterium, killing of cells of other organism, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000244060 chr12 111879338 111880249 - RPS2P41 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000244061 chr5 72381794 72382393 + AC093278.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000244062 chr3 133760300 133762363 + AC080128.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244063 chr2 113829390 113831119 - AC104653.2 lincRNA 0 3 3 2 1 0 3 3 0 ENSG00000244065 chr3 128843564 128844404 - MARK2P17 processed_pseudogene 0 0 0 1 0 5 0 1 0 ENSG00000244066 chr1 244103932 244104210 + RN7SL148P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244067 chr6 52750089 52763569 - GSTA2 protein_coding Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008]. 2939 GO:0070062, GO:0070062, GO:0005829, GO:0005829, GO:0005829, extracellular exosome, extracellular exosome, cytosol, cytosol, cytosol, GO:0005515, GO:0004364, GO:0004364, protein binding, glutathione transferase activity, glutathione transferase activity, GO:1901687, GO:0035722, GO:0030855, GO:0006805, GO:0006749, GO:0006749, glutathione derivative biosynthetic process, interleukin-12-mediated signaling pathway, epithelial cell differentiation, xenobiotic metabolic process, glutathione metabolic process, glutathione metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000244071 chr19 51621136 51621701 + RPL9P33 processed_pseudogene 40 28 57 19 13 26 33 8 21 ENSG00000244073 chr5 37085056 37085852 + RPS4XP6 processed_pseudogene 0 0 0 0 0 1 0 1 0 ENSG00000244076 chr5 80315671 80315826 + AC026410.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244080 chr19 11516047 11516330 - RN7SL833P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244081 chr9 63025597 63025993 + AL591379.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244083 chr4 122815771 122816117 - AC021205.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244086 chr17 38855314 38855670 + AC110749.1 processed_pseudogene 0 3 1 7 4 15 12 5 6 ENSG00000244088 chr5 121575848 121576320 - RPL23AP44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244089 chr3 148824782 148825387 - HMGB1P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244091 chr12 94515476 94515760 + RN7SL483P misc_RNA 0 0 0 0 1 0 3 1 0 ENSG00000244094 chr1 153112114 153113515 - SPRR2F protein_coding 6705 GO:0005829, GO:0001533, GO:0001533, cytosol, cornified envelope, cornified envelope, GO:0070268, GO:0030216, GO:0008544, cornification, keratinocyte differentiation, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000244097 chr17 656794 657547 - RPS4XP17 processed_pseudogene 2 3 1 3 5 0 3 4 6 ENSG00000244099 chr4 66431092 66431521 + RPS23P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244101 chr3 136609050 136609602 + HMGN1P10 processed_pseudogene 0 4 1 2 2 0 0 0 0 ENSG00000244104 chr9 107811616 107811914 - RN7SL659P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244107 chr8 54420468 54420725 + RN7SL250P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244112 chr12 118993857 118994159 + RN7SL508P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244113 chr8 17150301 17150888 - AC079193.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244115 chr9 111631386 111670229 + DNAJC25-GNG10 protein_coding This gene represents naturally-occurring mRNAs that are co-transcribed products of the neighboring DNAJC25 and GNG10 genes. These transcripts include the first exon of DNAJC25 and the last two exons of GNG10, resulting in a protein that combines the N-terminus of DNAJC25 and the C-terminus of GNG10. [provided by RefSeq, Dec 2008]. 552891 0 0 0 0 0 0 0 0 0 ENSG00000244116 chr2 89221698 89222461 - IGKV2-28 IG_V_gene 0 0 0 0 0 0 1 0 5 ENSG00000244119 chr3 101712472 101713191 + PDCL3P4 processed_pseudogene 6 6 8 8 11 15 11 4 9 ENSG00000244122 chr2 233681938 233773299 + UGT1A7 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. [provided by RefSeq, Jul 2008]. 54577 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042803, GO:0019899, GO:0015020, GO:0005080, GO:0004857, GO:0001972, protein homodimerization activity, enzyme binding, glucuronosyltransferase activity, protein kinase C binding, enzyme inhibitor activity, retinoic acid binding, GO:0052697, GO:0052697, GO:0052696, GO:0052696, GO:0052695, GO:0051552, GO:0043086, GO:0042573, GO:0017144, GO:0009804, GO:0007588, xenobiotic glucuronidation, xenobiotic glucuronidation, flavonoid glucuronidation, flavonoid glucuronidation, cellular glucuronidation, flavone metabolic process, negative regulation of catalytic activity, retinoic acid metabolic process, drug metabolic process, coumarin metabolic process, excretion, 0 0 0 0 0 0 0 0 0 ENSG00000244124 chr3 141918252 141919021 - ATP1B3-AS1 antisense 7 6 10 11 0 14 11 1 8 ENSG00000244125 chr2 142131178 142137830 - AC078882.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000244128 chr3 165206960 165655423 + LINC01322 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244130 chr3 72006774 72006975 + UBE2Q2P9 processed_pseudogene 4 2 2 7 15 10 10 4 8 ENSG00000244131 chr12 8742428 8743072 + RPSAP51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244134 chr11 72708186 72708565 + RPS12P20 processed_pseudogene 34 39 48 7 18 30 10 9 21 ENSG00000244137 chr1 230710698 230795492 - AL512328.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244139 chr3 120121909 120122206 + RN7SL397P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244142 chr3 111478737 111478943 + ATP6V0CP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244144 chr3 112185480 112185998 - AC128688.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244146 chr4 164920618 164921063 - AC106872.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244151 chr7 151074742 151076530 - AC010973.2 antisense 18 27 34 46 52 17 47 22 22 ENSG00000244153 chr3 98657802 98660570 + WWP1P1 processed_pseudogene 0 1 1 0 0 3 0 1 0 ENSG00000244155 chr13 18741730 18742718 - CYP4F34P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244157 chr3 115279125 115279860 + EIF4E2P2 processed_pseudogene 0 0 0 1 0 0 0 1 0 ENSG00000244158 chr6 116460739 116463692 - Z84488.1 antisense 4 5 4 0 17 1 1 4 14 ENSG00000244159 chr8 53887008 53887244 - RPS27AP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244161 chr3 58162547 58170636 - FLNB-AS1 antisense 105377105 3 7 16 8 7 23 9 2 11 ENSG00000244165 chr19 10111538 10115372 + P2RY11 protein_coding The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008]. 5032 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0045031, GO:0045031, GO:0038023, GO:0030594, GO:0030594, G protein-coupled ATP receptor activity, G protein-coupled ATP receptor activity, signaling receptor activity, neurotransmitter receptor activity, neurotransmitter receptor activity, GO:0071318, GO:0035589, GO:0023041, GO:0023041, GO:0019722, GO:0007200, GO:0007190, GO:0007186, GO:0007186, GO:0006952, cellular response to ATP, G protein-coupled purinergic nucleotide receptor signaling pathway, neuronal signal transduction, neuronal signal transduction, calcium-mediated signaling, phospholipase C-activating G protein-coupled receptor signaling pathway, activation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, defense response, 11 9 17 23 6 25 17 6 31 ENSG00000244167 chr7 7177952 7178324 + AC005532.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244169 chr3 1065580 1065875 - RN7SL120P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244171 chr3 143176327 143177617 + PBX2P1 processed_pseudogene 2280 2402 2543 569 1117 895 825 1169 805 ENSG00000244176 chr11 62011751 62012602 - AP003733.1 processed_pseudogene 1 2 0 1 0 0 1 1 0 ENSG00000244183 chr3 60732144 60732636 - PPIAP71 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244184 chr17 4704230 4705529 + AC091153.3 antisense 101559451 5 0 2 0 2 2 0 1 0 ENSG00000244187 chr9 136791355 136793257 + TMEM141 protein_coding 85014 GO:0016021, integral component of membrane, GO:0005515, protein binding, 17 19 18 14 9 24 15 11 12 ENSG00000244192 chr5 130989897 130990428 + AC113367.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244193 chr3 169945987 169946754 - AC008040.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244194 chr4 74011578 74011876 + RN7SL218P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244196 chr3 109471329 109471812 - PPIAP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244197 chr13 21790537 21790845 + RN7SL766P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244198 chr7 144194858 144280547 + AC004889.1 antisense 6 5 6 26 5 3 11 1 3 ENSG00000244199 chr3 182460417 182461072 - EIF4EP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244203 chr3 71289769 71305853 + FOXP1-AS1 antisense 104502416 3 8 4 8 7 4 9 6 6 ENSG00000244213 chr9 35449748 35450352 + ZFAND6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244215 chr3 127322307 127390670 - LINC02016 lincRNA 101927123 0 0 0 0 0 0 0 0 0 ENSG00000244217 chr8 94352923 94353653 + RPS4XP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244218 chr7 128761338 128761598 + RN7SL81P misc_RNA 1 0 0 0 0 3 3 0 3 ENSG00000244219 chr7 99598066 99610813 + TMEM225B protein_coding 100289187 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0010923, negative regulation of phosphatase activity, 0 0 0 0 0 0 0 0 0 ENSG00000244222 chr3 75598652 75599673 - OR7E121P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244226 chr3 65687301 65688468 + ILF2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244227 chr3 167864773 167924011 + LRRC77P transcribed_unitary_pseudogene 646168 0 0 0 1 0 0 0 0 0 ENSG00000244229 chr18 76834429 76834888 - RPL26P35 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000244230 chr9 21699314 21699596 + RN7SL151P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244231 chrY 24183434 24187231 - CSPG4P2Y processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000244232 chr3 128785147 128785448 + RN7SL698P misc_RNA 1 5 0 5 10 4 5 6 3 ENSG00000244234 chr5 178184503 178187432 - GMCL2 protein_coding This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008]. 64396 GO:0016363, GO:0005634, nuclear matrix, nucleus, GO:0097602, GO:0005515, cullin family protein binding, protein binding, GO:0016567, GO:0007283, GO:0007281, GO:0007275, protein ubiquitination, spermatogenesis, germ cell development, multicellular organism development, 2 0 0 0 0 0 0 1 0 ENSG00000244235 chr8 42101318 42101836 + AC103724.1 processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000244236 chr2 69516751 69517046 + RN7SL604P misc_RNA 1 0 0 1 0 0 0 0 0 ENSG00000244237 chr14 69561019 69561470 - AL133445.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244239 chr7 8262233 8262821 + AC007009.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244242 chr11 1732410 1750591 - IFITM10 protein_coding 402778 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, 1 4 0 31 9 13 16 3 11 ENSG00000244244 chr11 92498152 92498935 - RPS3AP42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244245 chr5 108593609 108593967 + AC133134.1 processed_pseudogene 1 0 0 2 0 3 0 0 1 ENSG00000244246 chrY 7913422 7914090 - ZNF736P8Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244247 chr3 182498264 182507124 - LINC01995 lincRNA 105374244 0 0 0 0 0 0 0 0 0 ENSG00000244249 chr3 159386756 159387440 - AC063955.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244251 chr15 40480752 40481315 - AC013356.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244253 chr19 39588955 39589125 + RPS29P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244255 chr6 31927698 31952048 + AL645922.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000244256 chr1 63655743 63656047 + RN7SL130P misc_RNA 0 1 0 4 6 0 2 0 7 ENSG00000244257 chr16 16310341 16334190 + PKD1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244259 chr11 115950196 115950801 - AP000797.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244260 chr2 9674023 9708413 + AC082651.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244264 chr13 41121876 41122171 + RN7SL597P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244265 chr3 150761937 150762538 + SIAH2-AS1 antisense 74 58 84 62 38 64 56 38 31 ENSG00000244266 chr12 50365652 50366086 + AC090058.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244267 chr11 44629357 44629674 + RPL34P22 processed_pseudogene 1 9 7 9 9 10 0 2 14 ENSG00000244268 chr3 153156511 153161775 - AC117394.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244270 chr14 49577392 49577794 - RPL32P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244273 chr7 142722358 142722764 + PGBD4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244274 chr20 45406057 45410610 + DBNDD2 protein_coding 55861 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0006469, GO:0006469, negative regulation of protein kinase activity, negative regulation of protein kinase activity, 1 4 6 28 6 28 9 10 9 ENSG00000244278 chr21 25055535 25069906 + AP000235.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244280 chr2 232385750 232387457 - ECEL1P2 transcribed_unprocessed_pseudogene 347694 0 0 0 0 0 0 0 0 0 ENSG00000244281 chr3 81366990 81368021 - AC107302.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244283 chr17 6749718 6750188 + RPL23AP73 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244286 chr3 124781155 124787757 + ITGB5-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244289 chr8 12628476 12629256 - RPS3AP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244292 chr7 141911217 141911943 + OR9N1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244294 chr21 33918995 33919338 - RN7SL740P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244295 chr8 73982125 73982467 + RPS20P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244296 chr22 19365766 19366044 + RN7SL168P misc_RNA 0 0 0 0 0 0 2 1 0 ENSG00000244297 chr6 38744086 38744386 + RN7SL465P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244300 chr3 128489212 128502348 + GATA2-AS1 antisense 0 0 1 1 0 0 2 0 0 ENSG00000244301 chr2 200678233 200734109 + AOX3P transcribed_unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000244302 chr3 179898229 179921895 + PEX5L-AS2 antisense 101928790 0 0 0 0 0 0 0 0 0 ENSG00000244306 chr14 19268853 19337730 - DUXAP10 transcribed_processed_pseudogene Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]. 503639 0 2 0 0 0 0 0 0 0 ENSG00000244307 chr8 144785298 144785588 + RN7SL395P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000244308 chr3 120110498 120110786 - RN7SL762P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244310 chr2 9115197 9116884 + AC093904.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244313 chr11 46428653 46429150 - AC024293.1 processed_pseudogene 70 29 52 83 63 116 72 38 85 ENSG00000244314 chr3 195146728 195147003 - RN7SL36P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244318 chr7 96940068 96940364 - RN7SL252P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244321 chr3 166569693 166570763 - LINC01326 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244326 chr5 74317986 74318285 + RN7SL814P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244327 chr3 142465315 142472337 - AC109992.2 sense_overlapping 0 1 0 3 3 4 0 3 3 ENSG00000244328 chr7 152757662 152757951 + RN7SL845P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244329 chr18 27355406 27355764 - UBA52P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244331 chr5 157931258 157931563 - AC008677.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244332 chr10 94577439 94611238 + AL138759.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000244335 chrX 153666226 153666510 + RN7SL687P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000244337 chr2 131958277 131965535 + AJ239322.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244342 chr3 62950430 63125062 + LINC00698 lincRNA 285401 0 0 0 0 0 0 0 0 0 ENSG00000244345 chr3 72504806 72550552 - AC104435.2 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000244346 chr3 182950783 182956307 - AC092953.1 processed_pseudogene 1 2 7 0 2 2 2 7 6 ENSG00000244349 chr6 28986800 28988536 + AL662791.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244355 chr6 31715356 31717804 + LY6G6D protein_coding LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009]. 58530 GO:0045202, GO:0032991, GO:0031225, GO:0030175, GO:0009897, GO:0009897, GO:0005886, GO:0005576, synapse, protein-containing complex, anchored component of membrane, filopodium, external side of plasma membrane, external side of plasma membrane, plasma membrane, extracellular region, GO:0042802, GO:0030550, GO:0005515, identical protein binding, acetylcholine receptor inhibitor activity, protein binding, GO:2000272, GO:0095500, negative regulation of signaling receptor activity, acetylcholine receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000244356 chr10 33288304 33288601 - RN7SL398P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244357 chr3 45742675 45742970 + RN7SL145P misc_RNA 1 0 3 1 3 1 3 2 13 ENSG00000244358 chr3 145939912 145961536 + AC055758.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244361 chr5 10488820 10489142 + RPL30P7 processed_pseudogene 6 5 2 1 2 12 3 6 2 ENSG00000244362 chr21 30560875 30561314 - KRTAP19-7 protein_coding 337974 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000244363 chr5 77582376 77583122 + RPL7P23 processed_pseudogene 3 3 4 7 5 10 1 3 5 ENSG00000244371 chr1 146957117 146957659 - PFN1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244372 chr2 160877547 160877850 + RN7SL423P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244376 chr20 50429190 50429483 - RN7SL636P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244378 chr16 69033675 69036042 + RPS2P45 transcribed_processed_pseudogene 0 1 0 1 1 0 0 1 3 ENSG00000244380 chr3 48440352 48446656 - AC134772.1 antisense 249 193 206 161 239 187 167 235 213 ENSG00000244381 chr3 169709295 169709765 + AC007849.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244383 chr3 58607080 58644491 + FAM3D-AS1 antisense 105377108 1 0 4 0 2 0 0 1 0 ENSG00000244384 chr2 232649849 232650136 + RN7SL359P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244389 chr1 70180144 70180440 - RN7SL242P misc_RNA 0 0 0 0 0 0 0 0 1 ENSG00000244390 chr12 59020169 59020894 + RPS6P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244391 chr12 94361220 94361526 + RN7SL330P misc_RNA 0 1 2 0 0 0 2 0 0 ENSG00000244392 chr7 80245926 80246225 + RN7SL869P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244395 chrY 21880076 21894526 - RBMY1D protein_coding This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]. 378949 GO:1990904, GO:0005634, ribonucleoprotein complex, nucleus, GO:0003723, RNA binding, GO:0008380, GO:0006397, RNA splicing, mRNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000244398 chr11 16974693 16975013 - AC116533.1 processed_pseudogene 43 51 86 180 96 188 112 81 145 ENSG00000244399 chr2 85442495 85442791 + RN7SL251P misc_RNA 0 1 0 3 3 6 0 2 0 ENSG00000244400 chr11 121250270 121250978 - RPS4XP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244402 chr10 37297398 37297689 + RN7SL314P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244404 chr3 25020166 25020463 - RN7SL216P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244405 chr3 186046308 186110318 - ETV5 protein_coding 2119 GO:0045202, GO:0005886, GO:0005654, GO:0005634, GO:0005634, GO:0000785, synapse, plasma membrane, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071340, GO:0060762, GO:0060252, GO:0050807, GO:0048133, GO:0045944, GO:0045666, GO:0034599, GO:0030154, GO:0007626, GO:0007274, GO:0006357, GO:0000122, skeletal muscle acetylcholine-gated channel clustering, regulation of branching involved in mammary gland duct morphogenesis, positive regulation of glial cell proliferation, regulation of synapse organization, male germ-line stem cell asymmetric division, positive regulation of transcription by RNA polymerase II, positive regulation of neuron differentiation, cellular response to oxidative stress, cell differentiation, locomotory behavior, neuromuscular synaptic transmission, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 13 16 33 16 19 20 12 10 15 ENSG00000244411 chr11 71527267 71528674 + KRTAP5-7 protein_coding 440050 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0005515, protein binding, GO:0031424, keratinization, 0 0 0 2 0 0 0 0 0 ENSG00000244413 chr8 134978827 134979279 - RPL23AP56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244414 chr1 196819757 196832189 + CFHR1 protein_coding This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]. 3078 GO:0072562, GO:0032991, GO:0005615, GO:0005576, blood microparticle, protein-containing complex, extracellular space, extracellular region, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0051838, GO:0032091, GO:0030449, GO:0006956, cytolysis by host of symbiont cells, negative regulation of protein binding, regulation of complement activation, complement activation, 0 0 0 0 0 0 0 0 0 ENSG00000244422 chr4 54976159 54976371 - RPL38P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244425 chr22 23879493 23879790 - RN7SL268P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244427 chr8 8095946 8096726 + AC105233.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244429 chr3 166293756 166294353 + AC104629.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244432 chr12 68001394 68001548 - RPL39P28 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000244436 chr12 31897820 31898123 + AC023050.1 processed_pseudogene 10 6 9 8 4 12 4 5 8 ENSG00000244437 chr2 89085177 89085787 - IGKV3-15 IG_V_gene 2 2 0 6 7 0 1 5 0 ENSG00000244441 chr3 120512850 120513188 + AC126182.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244451 chr11 130082495 130082781 - RPL34P21 processed_pseudogene 0 1 0 3 6 21 8 5 7 ENSG00000244456 chr17 20956682 20958404 + SPECC1P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244457 chr1 236483165 236484468 + ENO1P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244459 chr4 1574062 1580253 - AC147067.1 lincRNA 11 12 14 5 13 6 5 19 9 ENSG00000244461 chr3 78038705 78046794 - LINC02077 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244462 chr20 35648925 35664956 - RBM12 protein_coding This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010]. 10137 GO:1990904, GO:0005654, GO:0005654, ribonucleoprotein complex, nucleoplasm, nucleoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0043484, regulation of RNA splicing, 772 943 1243 537 694 910 493 515 764 ENSG00000244464 chr3 99598064 99623820 + AC107029.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244468 chr3 149284782 149333653 + AC093001.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244470 chr4 104886118 104886955 - AC105918.1 processed_pseudogene 0 0 0 0 1 0 0 0 1 ENSG00000244471 chr13 52488993 52587095 + AL137058.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244474 chr2 233718778 233773299 + UGT1A4 protein_coding This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]. 54657 GO:0016021, GO:0005789, GO:0005783, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, GO:0042803, GO:0019899, GO:0015020, GO:0001972, protein homodimerization activity, enzyme binding, glucuronosyltransferase activity, retinoic acid binding, GO:0052697, GO:0052696, GO:0052695, GO:0052695, GO:0042167, GO:0006789, xenobiotic glucuronidation, flavonoid glucuronidation, cellular glucuronidation, cellular glucuronidation, heme catabolic process, bilirubin conjugation, 0 0 0 0 0 0 0 0 0 ENSG00000244476 chr6 11102489 11111732 - ERVFRD-1 protein_coding Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]. 405754 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, protein binding, GO:0007520, GO:0006949, GO:0000768, GO:0000768, myoblast fusion, syncytium formation, syncytium formation by plasma membrane fusion, syncytium formation by plasma membrane fusion, 0 0 3 0 0 1 0 0 1 ENSG00000244479 chr7 144300395 144356181 - OR2A1-AS1 antisense 4 0 1 1 1 1 0 0 9 ENSG00000244480 chr7 30523143 30524535 - AC005154.2 transcribed_processed_pseudogene 26 29 30 46 46 59 25 24 36 ENSG00000244482 chr19 54236592 54242791 - LILRA6 protein_coding 79168 GO:0016021, integral component of membrane, GO:0002250, adaptive immune response, 163 155 185 63 34 37 64 41 40 ENSG00000244485 chr16 76235055 76235623 - RPL18P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244486 chr22 20424815 20437826 - SCARF2 protein_coding The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. 91179 GO:0016021, GO:0005925, integral component of membrane, focal adhesion, GO:0005515, GO:0005044, protein binding, scavenger receptor activity, GO:0007157, GO:0006897, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, endocytosis, 30 23 14 47 40 65 64 32 45 ENSG00000244490 chr7 105301522 105302086 + RWDD4P1 processed_pseudogene 19 10 32 14 25 29 18 11 24 ENSG00000244491 chr22 38734725 38738765 + AL021707.5 antisense 139 161 200 166 191 250 186 157 194 ENSG00000244493 chr3 143381338 143382161 + SLC9A9-AS2 antisense 2 0 1 4 0 2 1 0 4 ENSG00000244501 chr5 170866835 170867144 + RN7SL623P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244502 chr3 13476982 13480053 - HDAC11-AS1 antisense 100874101 0 0 0 0 0 0 0 1 0 ENSG00000244503 chr3 149494660 149495995 + AC108751.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244509 chr22 39014083 39020352 + APOBEC3C protein_coding This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008]. 27350 GO:0005737, GO:0005737, GO:0005634, GO:0005634, GO:0000932, cytoplasm, cytoplasm, nucleus, nucleus, P-body, GO:0047844, GO:0008270, GO:0005515, GO:0004126, GO:0003723, GO:0003723, deoxycytidine deaminase activity, zinc ion binding, protein binding, cytidine deaminase activity, RNA binding, RNA binding, GO:0080111, GO:0080111, GO:0070383, GO:0051607, GO:0045869, GO:0045087, GO:0045071, GO:0016554, GO:0016032, GO:0010529, GO:0010529, GO:0009972, DNA demethylation, DNA demethylation, DNA cytosine deamination, defense response to virus, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, innate immune response, negative regulation of viral genome replication, cytidine to uridine editing, viral process, negative regulation of transposition, negative regulation of transposition, cytidine deamination, 56 45 129 140 108 180 107 78 184 ENSG00000244510 chr7 66480394 66490108 - AC008267.5 transcribed_unprocessed_pseudogene 0 0 0 0 5 0 0 0 0 ENSG00000244512 chr4 184278936 184279233 + RN7SL28P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244513 chr3 69013941 69056622 + AC109587.1 antisense 457 404 682 279 379 321 300 329 267 ENSG00000244514 chr17 48765554 48765847 - RN7SL125P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244515 chr3 157162663 157163932 - KRT18P34 processed_pseudogene 6 7 9 2 8 23 7 1 19 ENSG00000244521 chr13 47458941 47459234 - RN7SL700P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244527 chr18 21119182 21119661 - AC022795.1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000244528 chr2 242122287 242122469 + SEPT14P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244532 chr12 6783854 6784161 - RN7SL380P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244534 chr2 64906863 64907138 - RN7SL211P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244535 chr11 32758268 32758614 + AL049714.1 processed_pseudogene 0 1 2 0 3 0 2 5 0 ENSG00000244537 chr17 41177446 41178208 - KRTAP4-2 protein_coding This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. 85291 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000244538 chr4 22594196 22594450 + AC098583.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000244540 chr12 51106817 51107144 + AC087884.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000244541 chr3 150238519 150240209 + LINC01213 lincRNA 101927992 0 0 0 0 0 0 0 0 0 ENSG00000244544 chr4 152264150 152264445 - RN7SL446P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244545 chr3 152648146 152650447 + AC092924.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244550 chr7 63233115 63241645 - AC006455.8 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000244551 chr16 49935028 49935352 + RPL34P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244556 chr7 129028889 129030527 + ODCP processed_pseudogene 10 13 11 23 11 3 2 3 19 ENSG00000244558 chr20 44694892 44746021 - KCNK15-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244559 chr17 48690481 48690624 - AC091179.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244560 chr7 149285281 149297312 + AC004890.2 transcribed_unprocessed_pseudogene 5 2 3 23 2 10 9 2 8 ENSG00000244561 chr3 109396616 109397870 + AC092905.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244563 chr2 127846736 127847084 - AC006011.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244564 chr3 64445231 64454832 + AC096888.1 lincRNA 101929316 0 0 0 0 0 0 0 0 0 ENSG00000244565 chr7 115503367 115504081 + AC073901.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244568 chr1 184335658 184335949 + RN7SL654P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244571 chr3 163115429 163116186 + RPS6P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244573 chr12 14356842 14365503 - RPL30P11 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244575 chr2 89213423 89213928 - IGKV1-27 IG_V_gene 1 1 0 0 4 0 0 1 0 ENSG00000244578 chr3 138935189 138944020 - LINC01391 lincRNA 103344930 0 0 0 0 0 0 0 0 0 ENSG00000244582 chr17 21504558 21505059 + RPL21P120 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000244585 chr12 120916745 120917236 + RPL12P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244586 chr3 55487699 55488308 + WNT5A-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244588 chr20 1226056 1296421 + RAD21L1 protein_coding 642636 GO:0034991, GO:0034990, GO:0030893, GO:0005694, GO:0005634, GO:0000800, GO:0000795, GO:0000785, GO:0000779, nuclear meiotic cohesin complex, nuclear mitotic cohesin complex, meiotic cohesin complex, chromosome, nucleus, lateral element, synaptonemal complex, chromatin, condensed chromosome, centromeric region, GO:0003682, chromatin binding, GO:1990414, GO:0072520, GO:0070197, GO:0051177, GO:0009566, GO:0007283, GO:0007130, GO:0007064, replication-born double-strand break repair via sister chromatid exchange, seminiferous tubule development, meiotic attachment of telomere to nuclear envelope, meiotic sister chromatid cohesion, fertilization, spermatogenesis, synaptonemal complex assembly, mitotic sister chromatid cohesion, 0 0 0 0 0 0 0 0 0 ENSG00000244593 chr8 18383274 18383917 - AC025062.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244604 chr17 8561230 8561576 + AC025518.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244607 chr3 42708269 42773253 - CCDC13 protein_coding 152206 GO:0042995, GO:0034451, GO:0034451, GO:0005829, GO:0005813, GO:0005654, cell projection, centriolar satellite, centriolar satellite, cytosol, centrosome, nucleoplasm, GO:0005515, protein binding, GO:1905515, GO:1905515, GO:0031122, GO:0031122, GO:0006974, non-motile cilium assembly, non-motile cilium assembly, cytoplasmic microtubule organization, cytoplasmic microtubule organization, cellular response to DNA damage stimulus, 57 86 69 33 46 43 25 41 19 ENSG00000244610 chr17 67457023 67457290 - RN7SL756P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000244615 chr13 24566843 24570728 + PSPC1P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244617 chr2 69960089 69962265 - ASPRV1 protein_coding Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]. 151516 GO:0016021, integral component of membrane, GO:0004190, aspartic-type endopeptidase activity, GO:0043588, GO:0016485, skin development, protein processing, 349 394 265 256 428 199 282 287 166 ENSG00000244618 chr6 25031009 25031287 - RN7SL334P misc_RNA 0 0 0 0 0 1 2 0 0 ENSG00000244619 chr1 145892847 145893483 + AC243547.1 antisense 0 0 0 3 0 1 0 0 0 ENSG00000244620 chr14 105890084 105896577 + AC246787.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244621 chr5 52282567 52282859 + RPS17P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244623 chr7 99875987 99877057 - OR2AE1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81392 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 1 1 0 0 0 0 0 0 0 ENSG00000244624 chr21 30616425 30616699 + KRTAP20-1 protein_coding 337975 GO:0005882, GO:0005829, intermediate filament, cytosol, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000244625 chr22 26672767 26780207 + MIATNB lincRNA 61 65 81 68 71 74 65 73 60 ENSG00000244627 chr22 38335762 38398929 - TPTEP2 transcribed_unprocessed_pseudogene 60 65 65 81 68 77 71 64 93 ENSG00000244630 chr5 80855507 80855843 - AC022493.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000244632 chr3 62796124 62796419 - RN7SL863P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244640 chr3 68633706 68634356 - AC096922.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244641 chr11 123049787 123050353 - RPS26P43 processed_pseudogene 0 0 0 0 3 2 0 3 0 ENSG00000244642 chr8 119862662 119862956 + RN7SL396P misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000244646 chrY 18128610 18137029 + XKRY2 transcribed_unprocessed_pseudogene This probable pseudogene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It is similar to the XK (X-linked Kell blood group precursor) gene, which encodes a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Nov 2020]. 353515 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000244649 chr17 48646923 48707346 + LINC02086 lincRNA 0 0 2 0 2 10 1 0 9 ENSG00000244650 chr3 148160911 148226606 + AC025566.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244652 chr3 106325737 106326293 - AC079382.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244653 chr3 98434034 98434847 + UBFD1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244657 chr7 66485095 66486532 - AC008267.6 transcribed_unprocessed_pseudogene 0 0 0 0 0 5 0 0 0 ENSG00000244661 chr7 142415224 142415666 + TRBV12-1 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244662 chr12 24642687 24643166 + AC087312.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244668 chr3 150719997 150720836 - SNRPCP3 processed_pseudogene 0 0 0 3 1 2 1 0 0 ENSG00000244669 chr4 64767130 64767897 - AC104689.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244671 chr22 21722895 21723182 - RN7SL280P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244674 chr3 75542149 75542929 - RPS3AP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244675 chr3 194496317 194501503 - AC108676.1 sense_overlapping 1 1 6 8 4 8 14 0 0 ENSG00000244676 chr21 17793488 17810845 + AL109761.1 antisense 23 16 50 8 8 33 33 12 28 ENSG00000244677 chr14 68149617 68149908 - RN7SL706P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244681 chr3 95654423 95683193 - MTHFD2P1 transcribed_processed_pseudogene 100287639 0 0 0 0 0 0 0 0 0 ENSG00000244682 chr1 161581339 161605662 + FCGR2C polymorphic_pseudogene 374 826 474 311 774 397 411 612 449 ENSG00000244687 chr20 50081124 50115959 - UBE2V1 protein_coding Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012]. 7335 GO:0070062, GO:0035370, GO:0032991, GO:0031371, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000151, extracellular exosome, UBC13-UEV1A complex, protein-containing complex, ubiquitin conjugating enzyme complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, ubiquitin ligase complex, GO:0061631, GO:0005515, ubiquitin conjugating enzyme activity, protein binding, GO:0070534, GO:0070534, GO:0070498, GO:0070423, GO:0051092, GO:0051092, GO:0045893, GO:0043123, GO:0030154, GO:0007254, GO:0006355, GO:0006301, GO:0006282, GO:0000209, GO:0000187, protein K63-linked ubiquitination, protein K63-linked ubiquitination, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, positive regulation of transcription, DNA-templated, positive regulation of I-kappaB kinase/NF-kappaB signaling, cell differentiation, JNK cascade, regulation of transcription, DNA-templated, postreplication repair, regulation of DNA repair, protein polyubiquitination, activation of MAPK activity, 23 41 50 25 20 32 23 21 35 ENSG00000244691 chr14 103412119 103412761 - RPL10AP1 processed_pseudogene 2 6 3 1 2 2 2 0 1 ENSG00000244692 chr3 139609669 139609939 - RN7SL724P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244693 chr7 144266701 144269288 - CTAGE8 protein_coding 100142659 GO:0070971, GO:0016021, GO:0005789, endoplasmic reticulum exit site, integral component of membrane, endoplasmic reticulum membrane, GO:0035459, GO:0009306, GO:0006888, vesicle cargo loading, protein secretion, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 1 0 0 0 0 1 0 0 ENSG00000244694 chr6 47878028 48068689 - PTCHD4 protein_coding 442213 GO:0016021, GO:0016020, GO:0005575, integral component of membrane, membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000244699 chr3 75384059 75391810 - AC139453.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244701 chr7 141652381 141656810 - AC004918.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244703 chr1 207645234 207657410 + CD46P1 unprocessed_pseudogene 1 0 0 1 1 5 0 1 4 ENSG00000244705 chr15 40312352 40313289 - AC020658.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244706 chr3 167866500 167870977 - AC026353.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244708 chr8 36581180 36581591 - RPL23P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244710 chr6 106283413 106283711 - RN7SL47P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244712 chr12 28564678 28565141 - AC084754.1 processed_pseudogene 0 2 1 0 0 0 0 0 0 ENSG00000244716 chr1 108992282 108992836 + BX679664.3 processed_pseudogene 117 86 158 320 117 391 328 89 260 ENSG00000244717 chr5 69469883 69470136 + RPS27P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244720 chr3 111633672 111635089 + AC055748.1 processed_pseudogene 7 5 18 24 2 22 45 2 13 ENSG00000244722 chr3 110682286 110683154 - RPSAP29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244723 chr22 23649213 23653334 - ASLP1 unprocessed_pseudogene 17 24 26 8 5 7 19 9 5 ENSG00000244730 chr3 49775285 49775614 + AC139451.1 processed_pseudogene 0 4 2 0 9 0 4 3 1 ENSG00000244731 chr6 31982024 32002681 + C4A protein_coding This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]. 720 GO:0072562, GO:0070062, GO:0045202, GO:0043025, GO:0030425, GO:0030424, GO:0005886, GO:0005788, GO:0005615, GO:0005615, GO:0005615, GO:0005576, blood microparticle, extracellular exosome, synapse, neuronal cell body, dendrite, axon, plasma membrane, endoplasmic reticulum lumen, extracellular space, extracellular space, extracellular space, extracellular region, GO:0004866, GO:0001849, endopeptidase inhibitor activity, complement component C1q complex binding, GO:2000427, GO:0045087, GO:0044267, GO:0043687, GO:0030449, GO:0010951, GO:0006958, GO:0006956, GO:0006956, GO:0006956, GO:0006954, positive regulation of apoptotic cell clearance, innate immune response, cellular protein metabolic process, post-translational protein modification, regulation of complement activation, negative regulation of endopeptidase activity, complement activation, classical pathway, complement activation, complement activation, complement activation, inflammatory response, 2 6 22 2 6 0 5 6 3 ENSG00000244732 chr3 47560229 47560524 - RN7SL870P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000244733 chr10 79660891 79677996 + AL132656.2 lincRNA 4 5 4 3 10 2 2 5 1 ENSG00000244734 chr11 5225464 5229395 - HBB protein_coding The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]. 3043 GO:1904813, GO:1904724, GO:0072562, GO:0071682, GO:0070062, GO:0031838, GO:0031838, GO:0005833, GO:0005833, GO:0005833, GO:0005833, GO:0005829, GO:0005615, GO:0005576, ficolin-1-rich granule lumen, tertiary granule lumen, blood microparticle, endocytic vesicle lumen, extracellular exosome, haptoglobin-hemoglobin complex, haptoglobin-hemoglobin complex, hemoglobin complex, hemoglobin complex, hemoglobin complex, hemoglobin complex, cytosol, extracellular space, extracellular region, GO:0046872, GO:0043177, GO:0031721, GO:0031720, GO:0031720, GO:0030492, GO:0020037, GO:0019825, GO:0019825, GO:0005515, GO:0005344, GO:0005344, GO:0004601, GO:0004601, metal ion binding, organic acid binding, hemoglobin alpha binding, haptoglobin binding, haptoglobin binding, hemoglobin binding, heme binding, oxygen binding, oxygen binding, protein binding, oxygen carrier activity, oxygen carrier activity, peroxidase activity, peroxidase activity, GO:0098869, GO:0070527, GO:0070293, GO:0045429, GO:0043312, GO:0042744, GO:0042744, GO:0042542, GO:0030185, GO:0015701, GO:0015671, GO:0015671, GO:0010942, GO:0008217, GO:0007596, GO:0006898, cellular oxidant detoxification, platelet aggregation, renal absorption, positive regulation of nitric oxide biosynthetic process, neutrophil degranulation, hydrogen peroxide catabolic process, hydrogen peroxide catabolic process, response to hydrogen peroxide, nitric oxide transport, bicarbonate transport, oxygen transport, oxygen transport, positive regulation of cell death, regulation of blood pressure, blood coagulation, receptor-mediated endocytosis, 905 205 501 9321 506 1725 3064 168 814 ENSG00000244738 chr3 170656562 170662123 + AC026316.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000244740 chr3 136205540 136205915 - AC092991.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244743 chr12 32863118 32863433 + AC087588.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244748 chr5 72314397 72314688 - RN7SL153P misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000244752 chr22 25219522 25231869 + CRYBB2 protein_coding Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]. 1415 GO:0042802, GO:0005515, GO:0005212, GO:0005198, identical protein binding, protein binding, structural constituent of eye lens, structural molecule activity, GO:0050896, GO:0007601, GO:0002088, response to stimulus, visual perception, lens development in camera-type eye, 0 0 0 0 0 0 0 0 0 ENSG00000244753 chr17 10860535 10861462 - RPL15P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244754 chr13 32432417 32538885 - N4BP2L2 protein_coding 10443 GO:0070062, GO:0017053, GO:0005634, GO:0005634, extracellular exosome, transcription repressor complex, nucleus, nucleus, GO:0019899, GO:0005515, GO:0003714, GO:0003714, GO:0003674, enzyme binding, protein binding, transcription corepressor activity, transcription corepressor activity, molecular_function, GO:1902037, GO:1902035, GO:0000122, GO:0000122, negative regulation of hematopoietic stem cell differentiation, positive regulation of hematopoietic stem cell proliferation, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 2142 2112 2730 1943 2512 2495 1932 1602 2035 ENSG00000244756 chr14 60572024 60572311 - AL049874.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000244757 chr9 116288618 116318689 - AL137024.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000244791 chr8 126325495 126329535 + AC087667.1 lincRNA 101927657 0 0 0 0 0 0 0 0 0 ENSG00000244879 chr15 50354959 50372202 + GABPB1-AS1 antisense 165 119 207 192 187 217 224 107 216 ENSG00000244921 chr5 134923303 134924049 - MTCYBP18 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000244926 chr11 43909292 43920944 - ALKBH3-AS1 antisense 100507300 0 2 0 0 0 0 0 2 0 ENSG00000244932 chr3 129381298 129394149 + AL449212.1 unprocessed_pseudogene 8 16 12 24 12 28 18 9 21 ENSG00000244945 chr5 179595904 179603741 - AC136604.2 antisense 101928445 47 66 47 35 60 27 28 48 14 ENSG00000244952 chr15 32613733 32615111 + AC123768.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000244953 chr11 43943787 43947206 - AC087521.1 lincRNA 0 0 0 0 0 5 0 0 0 ENSG00000244968 chr5 38556786 38671216 + LIFR-AS1 antisense 100506495 0 0 0 0 0 0 0 0 0 ENSG00000244998 chr8 141389939 141392574 - AC100803.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000245008 chr11 128614340 128686922 - AP001122.1 bidirectional_promoter_lncRNA 101929538 0 0 0 0 0 0 0 0 0 ENSG00000245017 chr12 98485544 98503855 - LINC02453 lincRNA 643770 0 0 1 2 0 1 0 0 0 ENSG00000245025 chr8 22984596 23019335 - AC107959.1 antisense 14 10 10 10 7 45 3 4 21 ENSG00000245059 chr16 81077319 81078861 + AC092718.1 lincRNA 0 0 0 0 1 0 0 1 1 ENSG00000245060 chr5 180830957 180835726 + LINC00847 lincRNA 729678 217 245 243 315 424 409 373 420 353 ENSG00000245067 chr4 57109762 57205510 + IGFBP7-AS1 antisense 255130 11 1 8 0 1 0 3 2 3 ENSG00000245080 chr8 95066808 95073182 - MIR3150BHG antisense 105375650 1 0 1 0 0 2 0 0 0 ENSG00000245105 chr12 9065177 9068684 + A2M-AS1 antisense 144571 2 1 7 11 0 14 13 1 9 ENSG00000245112 chr4 143513472 143514635 - SMARCA5-AS1 antisense 204 210 247 46 80 117 94 50 70 ENSG00000245146 chr5 140072857 140108630 - MALINC1 antisense 1 2 3 23 6 11 18 2 9 ENSG00000245148 chr11 72700474 72705607 + ARAP1-AS2 antisense 100506020 1013 1156 1240 510 800 337 528 596 281 ENSG00000245149 chr8 124462485 124474576 - RNF139-AS1 lincRNA 101927612 25 18 16 17 31 21 38 22 30 ENSG00000245156 chr11 66269832 66278525 - AP001107.1 lincRNA 690 732 787 187 346 209 272 326 211 ENSG00000245164 chr8 125922308 125951249 - LINC00861 lincRNA 100130231 94 76 163 314 50 422 312 55 232 ENSG00000245205 chr12 19456244 19457648 - EEF1A1P4 processed_pseudogene 0 0 0 0 3 0 3 0 1 ENSG00000245213 chr4 173131928 173169652 - AC105285.1 antisense 101930370 27 31 52 19 37 32 41 14 39 ENSG00000245248 chr11 119381778 119526664 + USP2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000245261 chr6 43213801 43223860 - AL133375.1 antisense 22 32 30 41 52 56 53 28 39 ENSG00000245275 chr5 154329437 154445850 - SAP30L-AS1 antisense 386627 12 9 21 14 9 16 10 7 13 ENSG00000245281 chr8 18084689 18096394 + AC124242.1 antisense 101929066 12 27 5 26 23 18 31 40 18 ENSG00000245293 chr4 107863479 107978799 - AC096564.1 antisense 101929595 5 3 13 5 1 7 5 4 5 ENSG00000245311 chr12 27389789 27446625 - ARNTL2-AS1 antisense 101928646 0 0 0 0 0 0 0 0 0 ENSG00000245317 chr5 179859013 179861283 + AC008393.1 lincRNA 100996419 0 0 0 2 2 0 0 0 0 ENSG00000245322 chr4 99950006 100195099 + AC097460.1 antisense 620 458 621 320 505 500 261 370 417 ENSG00000245330 chr8 119867419 119874488 - AP005717.1 lincRNA 0 0 0 0 0 0 4 0 0 ENSG00000245384 chr4 104490965 104697592 + CXXC4-AS1 antisense 101929468 0 0 0 0 0 0 0 1 0 ENSG00000245385 chr11 119336249 119337309 - AP003396.1 antisense 5 6 2 7 4 5 5 8 0 ENSG00000245466 chr14 70608798 70641298 - AL357153.1 lincRNA 101928075 GO:0005786, signal recognition particle, endoplasmic reticulum targeting, GO:0006617, SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition, 0 2 0 5 2 0 0 6 2 ENSG00000245468 chr4 7094571 7103385 - LINC02447 lincRNA 2 2 1 0 1 0 1 1 0 ENSG00000245479 chr15 90660234 90664967 + LINC01585 sense_overlapping 101929765 0 0 0 0 0 0 0 0 0 ENSG00000245482 chr12 34022281 34046417 - AC046130.1 antisense 2 1 6 1 8 2 5 4 16 ENSG00000245498 chr11 124800450 124834487 + AP000866.1 antisense 100507283 1 0 1 9 0 0 1 0 0 ENSG00000245522 chr11 9754770 9759533 - AC026250.1 lincRNA 440028 0 0 0 0 0 5 0 1 1 ENSG00000245526 chr5 88507546 88691041 - LINC00461 lincRNA This is an evolutionarily conserved gene that produces alternatively spliced long non-coding RNAs that may be expressed predominantly in the brain and visual cortex. These transcripts may be involved in tumorigenesis, as depletion by siRNA suppressed glioma cell division. Transcripts may also bind to and regulate the activity of miR-411-5p and argonaut 2, thereby altering the expression of genes involved in tumor growth. [provided by RefSeq, Nov 2017]. 645323 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000245532 chr11 65422774 65445540 + NEAT1 lincRNA This gene produces a long non-coding RNA (lncRNA) transcribed from the multiple endocrine neoplasia locus. This lncRNA is retained in the nucleus where it forms the core structural component of the paraspeckle sub-organelles. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer progression. [provided by RefSeq, Mar 2015]. 283131 GO:0042382, paraspeckles, GO:1905172, GO:0035198, GO:0005515, RISC complex binding, miRNA binding, protein binding, GO:1901647, GO:0060965, GO:0050729, GO:0035195, positive regulation of synoviocyte proliferation, negative regulation of gene silencing by miRNA, positive regulation of inflammatory response, gene silencing by miRNA, 16401 22712 30068 176152 230988 275604 221357 190652 224397 ENSG00000245534 chr15 60479178 60630637 + RORA-AS1 antisense 101928784 4 5 12 9 0 15 4 5 13 ENSG00000245552 chr11 95150539 95234104 + AP000787.1 antisense 101929295 12 7 10 17 8 18 33 7 14 ENSG00000245556 chr5 78342365 78360507 - SCAMP1-AS1 lincRNA 728769 3 4 8 13 5 24 8 4 13 ENSG00000245571 chr11 59130133 59143015 - FAM111A-DT lincRNA 101927204 32 53 40 39 25 49 18 25 22 ENSG00000245573 chr11 27506838 27698174 + BDNF-AS antisense 497258 0 1 0 3 0 1 1 0 0 ENSG00000245598 chr19 46660364 46677447 + DACT3-AS1 antisense 100506068 7 9 8 25 22 31 18 1 6 ENSG00000245614 chr12 31020763 31073847 - DDX11-AS1 antisense 100506660 0 0 0 0 0 0 0 0 0 ENSG00000245648 chr12 10363769 10398506 + AC022075.1 antisense 101928100 10 19 36 45 34 62 46 23 36 ENSG00000245651 chr12 57869835 57896482 - AC083805.1 lincRNA 283387 0 0 0 0 0 0 0 0 0 ENSG00000245662 chr5 25187800 25324386 + LINC02211 lincRNA 0 0 1 1 0 1 1 0 0 ENSG00000245667 chr12 6543504 6544931 + AC006064.1 antisense 2 2 0 0 1 4 1 3 0 ENSG00000245680 chr19 37181579 37218153 - ZNF585B protein_coding 92285 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 26 21 10 31 33 25 42 24 35 ENSG00000245685 chr4 189780336 189940271 - FRG1-DT lincRNA 728339 0 0 0 0 0 0 0 0 0 ENSG00000245688 chr5 178438681 178443094 - AC008659.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000245694 chr16 54845189 54929189 - CRNDE lincRNA 101927480 0 1 0 1 0 1 0 0 0 ENSG00000245711 chr5 36221055 36221902 + NADK2-AS1 antisense 3 1 2 0 1 0 0 1 0 ENSG00000245719 chr15 67834310 67838879 - AC009292.1 lincRNA 101929076 0 0 0 0 0 0 7 0 0 ENSG00000245729 chr5 8333481 8457558 - LINC02226 lincRNA 729506 0 0 0 0 0 0 0 0 0 ENSG00000245748 chr4 7030554 7046231 - AC097382.2 antisense 100129931 1480 1408 1601 1549 2244 2122 1576 1469 1669 ENSG00000245750 chr15 69463026 69843120 + DRAIC lincRNA 145837 75 71 82 60 116 42 52 71 53 ENSG00000245768 chr16 58733912 59108974 + AC092378.1 lincRNA 0 5 3 12 1 3 2 3 5 ENSG00000245812 chr5 159100483 159117478 + LINC02202 lincRNA 101927740 0 0 0 0 1 0 0 0 0 ENSG00000245832 chr11 81879851 82718082 - MIR4300HG lincRNA 101928989 0 0 0 0 0 0 0 0 0 ENSG00000245848 chr19 33299934 33302564 - CEBPA protein_coding This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]. 1050 GO:0090575, GO:0043231, GO:0005730, GO:0005667, GO:0005654, GO:0005634, GO:0000785, GO:0000785, RNA polymerase II transcription regulator complex, intracellular membrane-bounded organelle, nucleolus, transcription regulator complex, nucleoplasm, nucleus, chromatin, chromatin, GO:0042803, GO:0019900, GO:0008134, GO:0005515, GO:0003700, GO:0003682, GO:0003677, GO:0001228, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, GO:0000976, protein homodimerization activity, kinase binding, transcription factor binding, protein binding, DNA-binding transcription factor activity, chromatin binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071407, GO:0071356, GO:0071285, GO:0070102, GO:0055088, GO:0050873, GO:0050872, GO:0050729, GO:0048839, GO:0048469, GO:0045945, GO:0045944, GO:0045944, GO:0045944, GO:0045892, GO:0045736, GO:0045669, GO:0045600, GO:0045444, GO:0043032, GO:0042593, GO:0032436, GO:0030851, GO:0030324, GO:0030225, GO:0030099, GO:0030099, GO:0019221, GO:0016032, GO:0008285, GO:0008285, GO:0008203, GO:0007219, GO:0007005, GO:0006357, GO:0006355, GO:0006091, GO:0001892, GO:0001889, GO:0000122, GO:0000050, cellular response to organic cyclic compound, cellular response to tumor necrosis factor, cellular response to lithium ion, interleukin-6-mediated signaling pathway, lipid homeostasis, brown fat cell differentiation, white fat cell differentiation, positive regulation of inflammatory response, inner ear development, cell maturation, positive regulation of transcription by RNA polymerase III, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, negative regulation of cyclin-dependent protein serine/threonine kinase activity, positive regulation of osteoblast differentiation, positive regulation of fat cell differentiation, fat cell differentiation, positive regulation of macrophage activation, glucose homeostasis, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, granulocyte differentiation, lung development, macrophage differentiation, myeloid cell differentiation, myeloid cell differentiation, cytokine-mediated signaling pathway, viral process, negative regulation of cell population proliferation, negative regulation of cell population proliferation, cholesterol metabolic process, Notch signaling pathway, mitochondrion organization, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, generation of precursor metabolites and energy, embryonic placenta development, liver development, negative regulation of transcription by RNA polymerase II, urea cycle, 171 109 196 43 106 41 38 60 59 ENSG00000245849 chr15 40686243 40695107 - RAD51-AS1 processed_transcript 100505648 97 101 90 188 114 182 212 66 137 ENSG00000245857 chr8 6835554 6885276 + GS1-24F4.2 lincRNA 100652791 0 0 0 0 0 0 0 0 0 ENSG00000245864 chr5 88676218 88722831 + MEF2C-AS2 antisense 109729137 40 31 17 10 35 14 26 28 7 ENSG00000245869 chr11 118885841 118887742 - AP004609.1 antisense 0 0 6 3 3 0 0 3 2 ENSG00000245870 chr4 41872747 41882955 - LINC00682 lincRNA 101927074 0 0 0 0 0 0 0 0 0 ENSG00000245888 chr16 27268205 27290492 + FLJ21408 antisense 400512 25 9 17 8 11 13 4 21 6 ENSG00000245904 chr12 92145573 92189660 + AC025164.1 antisense 1714 1611 1340 745 1003 968 709 880 831 ENSG00000245910 chr8 66921684 66926398 - SNHG6 processed_transcript 641638 49 39 59 211 87 137 100 66 109 ENSG00000245928 chr4 75980790 76005942 + AC112719.2 antisense 101928809 0 0 0 0 0 0 0 0 0 ENSG00000245937 chr5 127940426 128083172 - LINC01184 lincRNA 644873 9 4 11 30 10 21 27 15 13 ENSG00000245954 chr4 152100754 152104720 + LINC02273 lincRNA 100996286 18 20 25 67 17 72 82 21 31 ENSG00000245958 chr4 119454791 119552025 + AC093752.1 transcribed_unprocessed_pseudogene 645513 262 161 215 185 250 229 313 186 167 ENSG00000245970 chr8 98041726 98044121 + AP003352.1 antisense 478 404 598 733 560 788 538 523 726 ENSG00000245975 chr15 58768072 58770974 - AC090515.2 lincRNA 101928725 0 0 0 0 0 2 0 0 0 ENSG00000246016 chr5 10479371 10482309 + LINC01513 antisense 17 15 21 5 8 27 15 9 11 ENSG00000246022 chr3 126180065 126210169 + ALDH1L1-AS2 antisense 100862662 0 0 0 0 0 0 0 0 0 ENSG00000246067 chr11 83072066 83106719 + RAB30-AS1 lincRNA 17 10 19 12 9 13 25 25 6 ENSG00000246082 chr3 131361898 131365122 + NUDT16P1 transcribed_unitary_pseudogene 152195 54 36 32 10 29 9 15 30 7 ENSG00000246084 chr14 97458816 97581601 + LINC02325 lincRNA 101929241 4 5 9 3 14 3 1 12 5 ENSG00000246089 chr8 6403551 6407142 - AC016065.1 antisense 100287015 12 7 11 6 11 10 6 6 16 ENSG00000246090 chr4 99088857 99301356 + AP002026.1 antisense 100507053 2 3 2 6 0 3 4 1 5 ENSG00000246095 chr4 13546075 13547801 - LINC01096 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000246100 chr11 115754248 115760627 - LINC00900 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000246115 chr12 8512374 8512726 - SUPT4H1P2 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000246130 chr8 23068229 23083619 + AC107959.2 antisense 286059 76 126 218 18 95 70 32 81 61 ENSG00000246145 chr8 66419589 66428977 - RRS1-AS1 lincRNA 100505676 0 0 1 0 0 0 0 0 0 ENSG00000246174 chr11 78139771 78175323 + KCTD21-AS1 antisense 100289388 60 28 62 16 37 19 33 23 21 ENSG00000246203 chr1 155614726 155660245 - AL353807.3 unprocessed_pseudogene 13 8 5 11 6 20 6 7 5 ENSG00000246211 chr11 74311362 74324705 + P4HA3-AS1 lincRNA 101928580 0 0 0 0 0 0 0 0 0 ENSG00000246214 chr5 16615926 16629969 + AC022113.1 antisense 101929524 1 2 3 7 0 0 3 0 2 ENSG00000246223 chr14 97925610 97978124 - LINC01550 lincRNA 388011 8 5 7 36 13 26 16 14 32 ENSG00000246225 chr11 22829380 22945393 + AC006299.1 antisense 1 0 4 2 0 0 1 0 2 ENSG00000246228 chr8 127289817 127482139 - CASC8 antisense 727677 0 0 0 1 0 0 0 0 1 ENSG00000246250 chr11 43829709 43880726 - AC087521.2 antisense 15 30 35 15 19 25 15 17 21 ENSG00000246263 chr8 102239394 102253333 + UBR5-AS1 antisense 956 833 1102 963 1062 1053 1017 687 779 ENSG00000246273 chr11 9758292 9811335 + SBF2-AS1 antisense 283104 187 127 276 176 184 262 202 127 225 ENSG00000246283 chr15 42739118 42743202 + AC090510.1 lincRNA 47 65 71 52 64 47 40 45 30 ENSG00000246308 chr11 10809297 10822931 + AC116535.1 antisense 101928053 1 0 0 0 3 0 0 1 0 ENSG00000246316 chr5 114488997 114668410 - AC010230.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000246323 chr5 138032774 138037266 + AC113382.1 antisense 48 42 77 22 31 51 16 33 17 ENSG00000246331 chr12 30755074 30780739 + AC010198.1 lincRNA 645485 0 0 0 0 0 0 0 0 0 ENSG00000246334 chr5 177438503 177447699 - PRR7-AS1 antisense 97 137 127 86 181 132 175 154 131 ENSG00000246339 chr8 28696198 28701464 - EXTL3-AS1 antisense 101929402 4 13 6 0 10 16 6 8 7 ENSG00000246350 chr6 28587378 28591747 + AL049543.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000246363 chr12 89010681 89019679 - LINC02458 lincRNA 8 2 8 5 14 4 15 9 4 ENSG00000246366 chr8 70608577 70663279 + LACTB2-AS1 antisense 286190 0 2 5 6 7 4 8 2 2 ENSG00000246375 chr4 88284942 88331421 + AC107067.1 lincRNA 105369192 0 0 0 0 0 0 0 0 0 ENSG00000246379 chr16 56092987 56191094 - AC007495.1 lincRNA 283856 0 0 0 0 0 0 0 0 0 ENSG00000246394 chr12 133030389 133037222 - AC073911.1 lincRNA 101928597 0 0 0 0 0 0 0 0 0 ENSG00000246422 chr5 141558311 141565263 + AC008781.2 antisense 100505658 13 20 7 3 25 21 5 9 19 ENSG00000246430 chr8 56496246 56559823 - LINC00968 lincRNA 100507632 6 1 2 1 2 6 1 0 0 ENSG00000246451 chr14 103682362 103684015 - AL049840.1 antisense 128 157 262 140 145 118 101 114 144 ENSG00000246465 chr16 28284885 28292064 - AC138904.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000246477 chr8 11315859 11325429 - AF131216.1 antisense 101929290 22 31 17 26 46 39 32 30 33 ENSG00000246523 chr11 86955619 87000959 + AP001528.1 lincRNA 100506368 0 0 0 0 0 0 0 0 0 ENSG00000246526 chr4 6687448 6690519 - LINC002481 lincRNA 339988 13 10 14 29 12 30 49 21 40 ENSG00000246528 chr8 69834111 69854971 + AC079089.1 antisense 101929759 1 0 1 0 0 0 4 1 0 ENSG00000246541 chr4 94117792 94207556 - AC096746.1 lincRNA 101929210 0 0 0 0 0 0 0 0 0 ENSG00000246548 chr14 77041064 77069503 + LINC02288 lincRNA 283575 147 188 180 53 135 99 97 125 91 ENSG00000246560 chr4 102828055 102844075 + AC018797.2 antisense 105377348 14 25 11 25 24 31 24 20 21 ENSG00000246575 chr2 85315041 85316529 + AC093162.2 unprocessed_pseudogene 130 182 164 117 166 140 142 136 187 ENSG00000246582 chr8 23224471 23230926 + AC100861.1 processed_transcript 389641 21 17 19 7 9 17 7 19 10 ENSG00000246596 chr5 177619059 177672209 - AC139795.1 transcribed_unprocessed_pseudogene 4 8 14 28 6 5 22 12 5 ENSG00000246627 chr12 2676001 2691200 - CACNA1C-AS1 antisense 100652846 1 0 5 17 3 15 4 1 1 ENSG00000246640 chr17 50050349 50055739 - PICART1 lincRNA 284080 0 0 0 0 0 0 0 0 0 ENSG00000246662 chr8 93213302 93700433 - LINC00535 antisense 642924 0 0 0 0 0 0 0 0 0 ENSG00000246695 chr12 25939329 25959765 - RASSF8-AS1 antisense 0 0 0 1 0 0 0 2 0 ENSG00000246705 chr12 14774383 14778002 + H2AFJ protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a replication-independent histone that is a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. This gene also encodes an antimicrobial peptide with antibacterial and antifungal activity.[provided by RefSeq, Oct 2015]. 55766 GO:0070062, GO:0000786, GO:0000785, extracellular exosome, nucleosome, chromatin, GO:0046982, GO:0003677, GO:0003674, protein heterodimerization activity, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 41 84 84 53 78 56 34 65 55 ENSG00000246731 chr17 74209980 74213342 - MGC16275 antisense 85001 3 3 9 6 8 4 1 11 15 ENSG00000246740 chr15 41972763 41999094 + PLA2G4E-AS1 antisense 101928388 0 0 0 0 0 0 0 0 0 ENSG00000246763 chr5 98769618 98773469 - RGMB-AS1 antisense 503569 0 0 0 0 0 0 0 0 1 ENSG00000246774 chr4 109303035 109316135 + ZCCHC23 lincRNA 645078 GO:0008270, GO:0003676, zinc ion binding, nucleic acid binding, 0 0 2 0 0 0 0 0 0 ENSG00000246777 chr16 66751752 66754740 + AC044802.1 lincRNA 106699570 0 0 0 0 0 0 0 0 0 ENSG00000246790 chr11 121447331 121453013 - AP000977.1 antisense 59 34 70 6 23 37 10 11 25 ENSG00000246792 chr8 90646441 90656598 + AC106038.1 antisense 0 0 0 0 0 10 0 0 0 ENSG00000246820 chr11 8169167 8178903 + AC091013.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000246851 chr9 131189910 131194205 - AL157938.3 antisense 29 20 26 5 15 13 13 22 14 ENSG00000246859 chr5 111512226 111739726 + STARD4-AS1 antisense 100505678 6 0 5 15 4 7 6 10 14 ENSG00000246863 chr15 39921042 39925880 + AC012377.1 lincRNA 0 0 0 1 0 0 4 0 0 ENSG00000246876 chr4 129724171 129771481 - LINC02466 lincRNA 101927282 0 0 0 0 0 0 0 0 0 ENSG00000246877 chr15 75727670 75738623 - DNM1P35 antisense 0 0 0 0 2 0 0 0 3 ENSG00000246889 chr11 70372246 70398488 - AP000487.1 antisense 135 191 243 127 203 169 162 181 137 ENSG00000246898 chr16 66408524 66412135 + LINC00920 lincRNA 0 0 4 12 4 9 7 2 10 ENSG00000246922 chr15 65092770 65115197 - UBAP1L protein_coding 390595 GO:0000813, ESCRT I complex, GO:0043130, ubiquitin binding, GO:0043162, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, 8 11 16 21 25 36 35 13 9 ENSG00000246982 chr6 36146698 36197205 - Z84485.1 antisense 8 11 7 14 6 7 4 6 7 ENSG00000246985 chr12 93542463 93571768 - SOCS2-AS1 processed_transcript 144481 1 0 1 6 0 2 7 1 6 ENSG00000247011 chr17 50934989 50944713 - AC005920.1 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000247033 chr16 75108601 75110712 - AC099508.1 antisense 1 2 2 1 3 1 6 3 7 ENSG00000247049 chr5 181224646 181230685 - AC008443.1 antisense 40 52 32 38 27 29 40 36 37 ENSG00000247077 chr12 132710819 132722734 + PGAM5 protein_coding 192111 GO:0016021, GO:0005741, GO:0005739, integral component of membrane, mitochondrial outer membrane, mitochondrion, GO:0106307, GO:0106306, GO:0044877, GO:0016791, GO:0005515, GO:0005096, GO:0004722, GO:0004722, protein threonine phosphatase activity, protein serine phosphatase activity, protein-containing complex binding, phosphatase activity, protein binding, GTPase activator activity, protein serine/threonine phosphatase activity, protein serine/threonine phosphatase activity, GO:0120163, GO:0070266, GO:0043547, GO:0016236, GO:0006470, negative regulation of cold-induced thermogenesis, necroptotic process, positive regulation of GTPase activity, macroautophagy, protein dephosphorylation, 14 8 18 28 16 46 28 22 26 ENSG00000247081 chr8 103156990 103298772 - BAALC-AS1 antisense 105369147 0 0 0 0 0 1 0 0 0 ENSG00000247092 chr14 95532297 95534872 - SNHG10 antisense 8 5 16 6 7 11 8 5 15 ENSG00000247095 chr11 565660 568457 - MIR210HG lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000247121 chr5 96814028 96935809 - AC009126.1 antisense 18 22 28 22 11 11 9 12 15 ENSG00000247130 chr4 188140822 188143379 - AC138781.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000247131 chr12 69713633 69738568 - AC025263.1 antisense 101928002 1 0 0 0 0 0 0 0 0 ENSG00000247134 chr8 32996178 33044855 + AC090204.1 lincRNA 1 0 0 0 1 0 0 0 2 ENSG00000247137 chr11 83184491 83193794 - AP000873.2 processed_transcript 251 254 242 972 921 973 692 578 627 ENSG00000247151 chr11 33161657 33191598 + CSTF3-DT processed_transcript 338739 1 0 2 0 0 0 1 1 0 ENSG00000247157 chr12 11548030 11590369 + LINC01252 lincRNA 338817 1 0 1 3 2 1 0 2 1 ENSG00000247193 chr4 36244116 36274220 + AC104078.1 antisense 439933 3 3 8 12 5 6 9 8 6 ENSG00000247199 chr5 148268307 148383783 - AC091948.1 antisense 102546294 8 0 11 7 6 19 2 7 26 ENSG00000247213 chr12 108434130 108492585 - LINC01498 antisense 102723562 1 1 0 0 0 0 0 0 0 ENSG00000247228 chr16 70156340 70173448 - AC009060.1 antisense 400541 94 193 109 260 312 220 176 201 107 ENSG00000247240 chr15 74461265 74481302 + UBL7-AS1 antisense 440288 36 16 46 29 21 19 25 8 14 ENSG00000247271 chr11 10858259 10906802 + ZBED5-AS1 antisense 729013 9 9 17 3 19 8 5 20 3 ENSG00000247287 chr14 61298164 61322818 - AL359220.1 antisense 12 7 15 18 1 20 14 4 6 ENSG00000247311 chr5 122128762 122154856 - AC010255.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000247315 chr20 296968 300321 + ZCCHC3 protein_coding 85364 GO:0005737, cytoplasm, GO:0008270, GO:0005515, GO:0003723, GO:0003690, zinc ion binding, protein binding, RNA binding, double-stranded DNA binding, GO:1900246, GO:0071360, GO:0051607, GO:0045087, GO:0032481, GO:0009597, GO:0002218, positive regulation of RIG-I signaling pathway, cellular response to exogenous dsRNA, defense response to virus, innate immune response, positive regulation of type I interferon production, detection of virus, activation of innate immune response, 201 142 287 103 71 107 93 82 90 ENSG00000247317 chr8 142981738 143018437 - LY6E-DT lincRNA 0 0 0 0 0 0 3 1 0 ENSG00000247324 chr16 71462278 71465941 + AC010547.1 antisense 0 0 1 0 2 0 0 0 1 ENSG00000247345 chr5 59039761 59063503 + AC092343.1 antisense 2 0 1 0 0 0 0 1 0 ENSG00000247363 chr12 68674371 68687755 - AC090061.1 lincRNA 100507250 8 6 7 9 6 7 4 6 16 ENSG00000247372 chr5 75320155 75336914 - AC008897.2 antisense 0 0 0 0 1 0 2 1 4 ENSG00000247373 chr12 123575891 123585115 - AC055713.1 lincRNA 174 147 187 51 78 78 53 65 65 ENSG00000247381 chr13 27819376 27917298 - PLUT lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000247400 chr13 95648733 95676925 - DNAJC3-DT lincRNA 100289274 157 127 296 13 39 33 66 34 72 ENSG00000247402 chr5 102605635 102606197 + AC099487.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000247416 chr11 112959279 112963460 - AP000802.1 antisense 101928847 0 0 0 0 1 0 2 0 0 ENSG00000247473 chr11 3029009 3041260 + CARS-AS1 antisense 100852407 2 64 59 2 6 0 22 5 4 ENSG00000247498 chr12 12927726 12984645 + GPRC5D-AS1 antisense 100506314 3 6 1 0 0 7 0 1 4 ENSG00000247516 chr5 8450743 8463095 + MIR4458HG lincRNA 100505738 0 0 2 2 1 0 3 0 5 ENSG00000247556 chr15 41283990 41309737 + OIP5-AS1 processed_transcript This is a conserved gene that produces a long non-coding RNA that maintains cell proliferation in embryonic stem cells. This RNA can bind to and negatively regulate the activity of multiple cellular RNAs and microRNAs, including cyclin G associated kinase and ELAV like RNA binding protein 1. [provided by RefSeq, Dec 2017]. 729082 312 365 524 266 175 334 265 173 290 ENSG00000247570 chr8 69942948 69944648 + SDCBPP2 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000247572 chr5 81204084 81301560 - CKMT2-AS1 antisense 100131067 7 9 9 12 8 13 8 7 19 ENSG00000247595 chr11 18588781 18610255 + SPTY2D1OS protein_coding 100506540 GO:0016021, integral component of membrane, 326 301 335 283 264 231 248 173 179 ENSG00000247596 chr3 52228610 52239260 - TWF2 protein_coding The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008]. 11344 GO:0070062, GO:0048471, GO:0032420, GO:0030426, GO:0030175, GO:0030027, GO:0030016, GO:0030016, GO:0005884, GO:0005737, GO:0005737, GO:0005737, extracellular exosome, perinuclear region of cytoplasm, stereocilium, growth cone, filopodium, lamellipodium, myofibril, myofibril, actin filament, cytoplasm, cytoplasm, cytoplasm, GO:0051015, GO:0045296, GO:0005546, GO:0005524, GO:0005515, GO:0005080, GO:0003785, GO:0003785, GO:0003723, actin filament binding, cadherin binding, phosphatidylinositol-4,5-bisphosphate binding, ATP binding, protein binding, protein kinase C binding, actin monomer binding, actin monomer binding, RNA binding, GO:0071363, GO:0071300, GO:0051016, GO:0051016, GO:0045773, GO:0042989, GO:0042989, GO:0032956, GO:0032532, GO:0030837, GO:0030042, GO:0030030, GO:0010976, GO:0010976, GO:0010592, GO:0010591, cellular response to growth factor stimulus, cellular response to retinoic acid, barbed-end actin filament capping, barbed-end actin filament capping, positive regulation of axon extension, sequestering of actin monomers, sequestering of actin monomers, regulation of actin cytoskeleton organization, regulation of microvillus length, negative regulation of actin filament polymerization, actin filament depolymerization, cell projection organization, positive regulation of neuron projection development, positive regulation of neuron projection development, positive regulation of lamellipodium assembly, regulation of lamellipodium assembly, 497 420 644 198 380 342 252 349 342 ENSG00000247624 chr4 14909961 15002045 - CPEB2-DT lincRNA 441009 3 7 3 8 24 30 13 4 4 ENSG00000247626 chr2 197705369 197708387 + MARS2 protein_coding This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]. 92935 GO:0005759, GO:0005759, mitochondrial matrix, mitochondrial matrix, GO:0005524, GO:0004825, GO:0004825, GO:0004825, ATP binding, methionine-tRNA ligase activity, methionine-tRNA ligase activity, methionine-tRNA ligase activity, GO:0006431, GO:0006431, GO:0006418, methionyl-tRNA aminoacylation, methionyl-tRNA aminoacylation, tRNA aminoacylation for protein translation, 9 10 11 15 1 15 4 5 9 ENSG00000247627 chr5 134926660 134928036 - MTND4P12 processed_pseudogene 3 5 6 6 3 3 10 8 3 ENSG00000247675 chr11 46846412 46874396 + LRP4-AS1 antisense 100507401 0 0 0 0 0 0 0 0 0 ENSG00000247679 chr5 177611253 177619754 + AC139795.2 antisense 6 4 8 21 9 9 25 4 13 ENSG00000247699 chr5 160195744 160204826 - AC008609.1 antisense 0 0 0 0 1 2 1 0 0 ENSG00000247708 chr4 4542131 4710938 + STX18-AS1 antisense 100507266 1 0 2 0 1 12 0 1 0 ENSG00000247728 chr15 30616998 30625773 - AC091057.2 antisense 2 3 0 7 0 0 0 2 0 ENSG00000247735 chr16 29926836 29928933 + AC120114.1 antisense 1 0 0 0 0 0 0 1 0 ENSG00000247746 chrX 55484616 55489202 - USP51 protein_coding 158880 GO:0005694, chromosome, GO:0042393, GO:0008270, GO:0008234, GO:0004843, GO:0003682, histone binding, zinc ion binding, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, chromatin binding, GO:2001032, GO:2001020, GO:0016579, GO:0016578, GO:0010569, GO:0010564, GO:0006511, GO:0006281, regulation of double-strand break repair via nonhomologous end joining, regulation of response to DNA damage stimulus, protein deubiquitination, histone deubiquitination, regulation of double-strand break repair via homologous recombination, regulation of cell cycle process, ubiquitin-dependent protein catabolic process, DNA repair, 1 2 1 2 0 10 2 2 2 ENSG00000247763 chr5 43231812 43233173 - AC106800.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000247765 chr15 21298233 21325241 - AC068446.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000247774 chr12 47205898 47216456 - PCED1B-AS1 processed_transcript 100233209 131 73 175 245 107 211 177 124 152 ENSG00000247775 chr4 89836408 89841978 + SNCA-AS1 antisense 644248 0 0 0 0 0 0 0 0 0 ENSG00000247796 chr5 53109842 53115126 + AC008966.1 antisense 257396 1 0 0 2 2 0 1 2 0 ENSG00000247809 chr15 96110040 96327361 - NR2F2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000247810 chr4 37078577 37125424 + AL136537.1 lincRNA 101928721 0 0 0 0 0 0 0 0 0 ENSG00000247828 chr5 88268895 88436685 + TMEM161B-AS1 antisense 100505894 11 10 18 31 13 46 33 14 17 ENSG00000247853 chr12 6578622 6584739 + AC006064.2 antisense 621 723 1021 557 642 945 651 480 773 ENSG00000247867 chr11 75758455 75768647 - AP001922.1 antisense 283214 0 0 1 0 0 0 2 0 0 ENSG00000247872 chr5 816346 817001 + SPCS2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000247877 chr5 100449754 100535262 - AC021086.1 lincRNA 0 0 0 2 0 0 0 1 0 ENSG00000247903 chr12 26971586 26979582 + AC024896.1 antisense 15 16 21 9 27 9 7 17 13 ENSG00000247911 chr5 71537652 71537846 - HMGN1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000247925 chr6 11173452 11259099 + AL139807.1 antisense 96 150 132 66 98 122 68 66 81 ENSG00000247934 chr12 28163298 28190738 - AC022364.1 antisense 5 1 5 11 12 6 15 12 1 ENSG00000247950 chr4 109347475 109433817 - SEC24B-AS1 antisense 100533182 5 3 5 5 2 15 8 10 5 ENSG00000247970 chr14 99604556 99625740 + AL160313.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000247982 chr15 57300365 57307769 + LINC00926 lincRNA 283663 21 56 49 46 94 79 55 97 47 ENSG00000247993 chr5 73446357 73446984 + FOXD1-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248008 chr12 120490328 120495940 - NRAV antisense 100506668 1 6 2 0 1 10 2 2 2 ENSG00000248015 chr19 1392170 1396467 - AC005329.1 antisense 20 36 61 45 28 54 27 32 28 ENSG00000248019 chr4 88709789 88730103 + FAM13A-AS1 antisense 285512 755 767 832 1225 1602 1651 1278 1026 1465 ENSG00000248027 chr11 100684162 100687955 - AP001351.1 antisense 100128386 0 0 0 0 0 0 0 0 0 ENSG00000248029 chr5 55063179 55066230 + AC034238.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248049 chr4 67701280 68080952 + UBA6-AS1 antisense 5 7 12 19 6 17 13 9 16 ENSG00000248050 chr8 109644115 109648084 + AC079061.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248079 chr15 35546195 35859001 + DPH6-DT lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000248092 chr5 43571594 43603230 - NNT-AS1 antisense 10 12 9 18 9 22 12 6 17 ENSG00000248098 chr19 41397460 41425005 + BCKDHA protein_coding The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 593 GO:0005947, GO:0005947, GO:0005759, GO:0005739, GO:0005739, mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial matrix, mitochondrion, mitochondrion, GO:0046872, GO:0016831, GO:0005515, GO:0003863, GO:0003826, GO:0003826, metal ion binding, carboxy-lyase activity, protein binding, 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity, alpha-ketoacid dehydrogenase activity, alpha-ketoacid dehydrogenase activity, GO:0055114, GO:0009083, GO:0009083, GO:0009083, oxidation-reduction process, branched-chain amino acid catabolic process, branched-chain amino acid catabolic process, branched-chain amino acid catabolic process, 11 7 5 10 14 4 14 9 19 ENSG00000248099 chr19 17816512 17821574 - INSL3 protein_coding This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]. 3640 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0005515, GO:0005179, GO:0005158, GO:0005102, GO:0002020, GO:0001664, protein binding, hormone activity, insulin receptor binding, signaling receptor binding, protease binding, G protein-coupled receptor binding, GO:0090303, GO:0010634, GO:0007283, GO:0007267, GO:0007193, GO:0007186, positive regulation of wound healing, positive regulation of epithelial cell migration, spermatogenesis, cell-cell signaling, adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 14 27 18 44 86 49 48 37 20 ENSG00000248100 chr12 27547050 27552773 - AC087257.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248101 chr19 36008638 36014235 - AC002116.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000248103 chr5 181281375 181283652 + AC008443.2 lincRNA 0 0 1 0 0 3 0 0 0 ENSG00000248104 chr4 135565117 135567157 - TARS2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248105 chr5 82824884 82825184 + AC008885.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248106 chr5 140764110 140764821 + AC116353.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248107 chr5 126179577 126193850 + LINC02039 lincRNA 102546228 0 0 0 0 0 0 0 0 0 ENSG00000248109 chr5 148221650 148243580 + MARCOL protein_coding 105378220 GO:0031012, GO:0005615, extracellular matrix, extracellular space, GO:0005201, extracellular matrix structural constituent, GO:0030198, extracellular matrix organization, 0 0 0 0 0 0 0 0 0 ENSG00000248112 chr5 82919376 82921119 - AC108174.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248113 chr4 82580117 82581384 - AC067942.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248114 chr2 233738952 233741957 + AC114812.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248115 chr4 52945649 52958087 + AC023154.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000248117 chr4 78379197 78379514 + MINOS1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248118 chr5 3417152 3536094 - LINC01019 lincRNA 285577 0 0 0 0 0 0 0 0 0 ENSG00000248120 chr5 40967505 40967763 - AC114967.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248121 chr17 30600796 30615980 + SMURF2P1 transcribed_unprocessed_pseudogene 3 5 1 0 3 5 3 1 3 ENSG00000248122 chr4 68304343 68304939 - APOOP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248124 chr16 21796106 21820410 - RRN3P1 transcribed_unprocessed_pseudogene 76 74 117 179 56 180 209 40 161 ENSG00000248125 chr5 145429868 145451099 + AC008700.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248126 chr5 1598127 1598247 + AC091849.1 unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000248127 chr5 76081946 76084186 - AC026774.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248128 chr4 78003143 78003439 + AC114801.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248131 chr5 12574857 12804363 + LINC01194 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248132 chr5 58108082 58122341 - LINC02101 lincRNA 101928569 0 0 0 0 0 0 0 0 0 ENSG00000248133 chr4 25719755 25720030 - MTND4LP22 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248134 chr2 97018343 97018604 - AC079395.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248136 chr2 130282085 130282606 - MTND6P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248137 chr5 2831021 2835139 - AC094105.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248138 chr4 16400430 16512187 + AC097515.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248139 chr4 116425983 116430892 - CUL4AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248143 chr4 43457527 43492543 - LINC02383 lincRNA 105374436 0 0 0 0 0 0 0 0 0 ENSG00000248144 chr4 99336492 99353027 - ADH1C protein_coding This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation to acetaldehyde, thus playing a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. An association between ADH1C polymorphism and alcohol dependence has not been established. [provided by RefSeq, Sep 2019]. 126 GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005654, plasma membrane, cytosol, cytosol, cytosol, nucleoplasm, GO:0008270, GO:0004745, GO:0004024, GO:0004022, zinc ion binding, retinol dehydrogenase activity, alcohol dehydrogenase activity, zinc-dependent, alcohol dehydrogenase (NAD+) activity, GO:0042573, GO:0042572, GO:0006069, GO:0006069, GO:0006069, retinoic acid metabolic process, retinol metabolic process, ethanol oxidation, ethanol oxidation, ethanol oxidation, 0 0 0 0 0 0 0 0 0 ENSG00000248145 chr5 13175846 13179572 + AC016553.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248148 chr5 45035199 45098647 + AC114954.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248150 chr5 16373361 16440081 - LINC02150 lincRNA 101929505 1 0 0 0 2 1 0 1 0 ENSG00000248152 chr4 112979590 113071962 - AC093879.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248155 chr4 2607870 2608146 - CR545473.1 unprocessed_pseudogene 0 1 0 0 0 0 0 3 0 ENSG00000248156 chr5 24786842 24787024 - BTG4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248159 chr8 30237382 30240997 + HSPA8P11 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000248160 chr5 17647712 17647944 - AC233724.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248161 chr4 102418602 102450010 - AC098487.1 lincRNA 0 0 1 0 0 0 1 0 0 ENSG00000248162 chr4 164725310 164726706 + AC074198.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248165 chr4 74993877 75034824 - AC110760.1 antisense 0 0 0 3 0 0 0 0 0 ENSG00000248167 chr6 30328907 30346854 + TRIM39-RPP21 protein_coding This locus represents naturally occurring read-through transcription between the neighboring TRIM39 (tripartite motif-containing 39) and RPP21 (ribonuclease P/MRP 21kDa subunit) genes on chromosome 6. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]. 202658 0 0 0 0 0 0 0 0 0 ENSG00000248170 chr5 85237681 85238074 - AC117522.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248172 chr17 49996889 50016844 + AC009720.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248174 chr4 174094660 174220398 - LINC02268 lincRNA 101928509 1 0 0 0 0 0 0 0 0 ENSG00000248176 chr4 29118308 29202770 + AC109349.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248180 chr4 87207092 87208086 + GAPDHP60 processed_pseudogene 0 3 2 0 2 0 0 0 0 ENSG00000248184 chr4 54332892 54355954 + LINC02283 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248185 chr5 63301523 63302056 + AC025445.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248187 chr4 128567972 128570531 - AC078850.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248188 chr4 15743196 15743582 + AC005798.1 processed_pseudogene 2 7 0 1 0 2 0 3 0 ENSG00000248191 chr4 134327063 134328798 + PES1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248192 chr5 82073055 82073702 - ATG10-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248195 chr5 86335024 86335808 + AC016550.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248196 chr4 87166844 87167734 + AC092658.1 processed_pseudogene 0 0 4 3 11 0 1 2 4 ENSG00000248197 chr4 181064089 181159149 - LINC00290 lincRNA 728081 0 0 0 0 0 0 0 0 0 ENSG00000248199 chr5 61878109 61886129 + AC026434.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248200 chr4 110146374 110147248 + AC093770.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248202 chr5 97881420 97922695 + LINC02234 lincRNA 109729164 0 0 0 0 0 0 0 0 0 ENSG00000248203 chr5 103246048 103253519 - AC011362.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248205 chr5 17502043 17502363 - AC106774.1 processed_pseudogene 0 0 0 0 2 0 1 0 0 ENSG00000248206 chr4 183987678 183988750 + AC074194.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000248208 chr4 153658572 153659653 + WDR45P1 processed_pseudogene 1 4 2 1 1 1 0 2 3 ENSG00000248209 chr4 127493505 127493828 + AC097462.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248210 chr4 149154295 149278123 + LINC02355 lincRNA 101927849 0 0 0 0 0 0 0 0 0 ENSG00000248211 chr5 136214048 136222159 + TRPC7-AS1 antisense 0 0 0 1 0 0 0 0 0 ENSG00000248213 chr4 118635970 118638782 - CICP16 processed_pseudogene 11 19 28 9 34 19 7 10 18 ENSG00000248215 chr4 36496537 36641900 - LINC02505 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248216 chr5 37505688 37506857 - KCTD9P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248221 chr4 4476121 4481700 - STX18-IT1 sense_intronic 104472519 0 0 0 0 0 0 0 0 0 ENSG00000248222 chr5 169013227 169037998 + AC011389.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248223 chr5 17353910 17354899 + AC026785.2 lincRNA 69 92 79 74 114 125 138 113 87 ENSG00000248227 chr4 38366914 38385759 + LINC02513 lincRNA 105374410 0 0 0 0 0 0 0 0 0 ENSG00000248228 chr4 20392189 20394856 + SLIT2-IT1 sense_intronic 100505893 0 0 0 0 0 0 0 0 0 ENSG00000248229 chr4 164987265 164987787 + AC106872.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248231 chr8 89412621 89415071 - KRT8P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248234 chr5 38429892 38430160 - AC091839.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248235 chr8 22589274 22602084 + AC037459.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000248236 chr5 99594329 99594740 - AC008837.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248237 chr4 60784115 60784696 + AC105420.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248238 chr4 19172335 19456994 - LINC02438 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248240 chr5 43515274 43525310 + AC114956.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000248242 chr4 104653874 104966793 - AC004053.1 lincRNA 0 0 5 1 0 3 1 0 0 ENSG00000248243 chr3 130089433 130094304 - LINC02014 lincRNA 1 0 0 0 0 0 0 0 2 ENSG00000248245 chr5 133160438 133224413 + AC010307.2 antisense 2 0 0 0 0 0 0 0 0 ENSG00000248249 chr4 175962061 175962485 + AC110794.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248254 chr4 47556731 47560259 - AC107398.2 antisense 7 6 8 6 7 12 0 6 4 ENSG00000248256 chr4 48852008 48860203 - OCIAD1-AS1 antisense 100861517 25 24 31 14 21 16 11 9 7 ENSG00000248257 chr19 42839368 42855718 - PSG10P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248259 chr4 64610616 64610909 - MTND4LP31 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248261 chr5 102144077 102146572 + AC008948.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248262 chr4 11914667 11919688 + AC108037.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248265 chr12 54058254 54122234 + FLJ12825 lincRNA 440101 0 1 0 0 2 0 0 0 0 ENSG00000248266 chr4 182144852 182190382 + AC108142.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000248268 chr5 111277517 111302567 - AC010275.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000248271 chr5 58161197 58161752 + PGAM1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248275 chr5 181261212 181272307 + TRIM52-AS1 processed_transcript 100507602 35 33 22 21 27 30 25 23 11 ENSG00000248278 chr17 48874860 48908983 - SUMO2P17 transcribed_processed_pseudogene 105371814 5 2 0 3 4 0 4 1 2 ENSG00000248279 chr5 32947443 32962467 + LINC02120 lincRNA 340113 0 0 0 0 0 0 0 0 0 ENSG00000248281 chr4 30006951 30008316 - AC106868.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248282 chr4 81733385 81734207 - MTCYBP44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248283 chr4 42561457 42562425 - CCNL2P1 processed_pseudogene 1 2 2 0 4 0 7 1 7 ENSG00000248285 chr5 63957893 63981043 - AC122707.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000248286 chr5 21196720 21196860 + AC140172.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248287 chr4 165517255 165517501 - SCGB1D5P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248288 chr5 65209921 65210948 + AC008868.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248290 chr6 32008614 32012472 - TNXA unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248293 chr5 174926541 174926717 + AC008413.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248294 chr5 57574027 57614341 + AC008780.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248295 chr5 115974513 115976275 - DDX43P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248296 chr5 124492775 124536348 - AC025465.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248300 chr4 11740948 11769468 - LINC02360 lincRNA 105374484 0 0 0 0 0 0 0 0 0 ENSG00000248302 chr4 49096 50124 - BNIP3P41 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248305 chr4 138481255 138482096 - AC105416.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248307 chr4 138027422 138130709 - LINC00616 lincRNA 641365 0 0 0 0 0 0 0 0 0 ENSG00000248308 chr5 20830166 20830947 - AC138938.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248309 chr5 88883328 89466398 + MEF2C-AS1 antisense 101929423 52 48 46 29 46 25 27 37 55 ENSG00000248311 chr5 4775476 4805769 - AC026719.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248313 chr2 130048426 130049440 - CYP4F27P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248315 chr7 64105292 64105576 - MTND4LP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248317 chr4 54943630 54956818 + AC111194.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248318 chr8 120761253 120776832 + AC104958.1 antisense 101927543 1 0 2 1 2 4 2 1 3 ENSG00000248319 chr4 169917761 169975902 - LINC02275 lincRNA 100506085 0 0 0 0 0 0 0 0 0 ENSG00000248320 chr4 45323253 45326028 - THAP12P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248322 chr1 225936411 225937557 - AL117348.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000248323 chr5 91054834 91314547 - LUCAT1 antisense 8796 9894 16872 9845 12657 21814 13420 11439 16441 ENSG00000248327 chr4 165547532 165551060 - NOL8P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000248328 chr4 64611374 64611888 - MTCO3P28 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248329 chr4 164877004 164898965 + APELA protein_coding This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]. 100506013 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0031704, GO:0031704, GO:0005179, GO:0005179, apelin receptor binding, apelin receptor binding, hormone activity, hormone activity, GO:1904022, GO:1903589, GO:1901165, GO:0090134, GO:0090133, GO:0070374, GO:0060976, GO:0060674, GO:0060183, GO:0060183, GO:0060183, GO:0045823, GO:0045766, GO:0035050, GO:0007512, GO:0007509, GO:0007507, GO:0007492, GO:0001570, GO:0001525, positive regulation of G protein-coupled receptor internalization, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of trophoblast cell migration, cell migration involved in mesendoderm migration, mesendoderm migration, positive regulation of ERK1 and ERK2 cascade, coronary vasculature development, placenta blood vessel development, apelin receptor signaling pathway, apelin receptor signaling pathway, apelin receptor signaling pathway, positive regulation of heart contraction, positive regulation of angiogenesis, embryonic heart tube development, adult heart development, mesoderm migration involved in gastrulation, heart development, endoderm development, vasculogenesis, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000248330 chr4 135866983 135913680 - LINC00613 lincRNA 100507528 0 0 0 0 0 0 0 0 0 ENSG00000248332 chr11 8060038 8069373 + TUB-AS1 sense_intronic 101927917 0 0 0 0 0 0 0 0 0 ENSG00000248333 chr1 1635227 1659012 - CDK11B protein_coding This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 984 GO:0005737, GO:0005634, GO:0005634, cytoplasm, nucleus, nucleus, GO:0005524, GO:0005515, GO:0004693, GO:0004674, GO:0004672, GO:0003723, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, RNA binding, GO:0050684, GO:0007346, GO:0006915, GO:0006468, GO:0006468, GO:0006355, GO:0001558, GO:0000278, regulation of mRNA processing, regulation of mitotic cell cycle, apoptotic process, protein phosphorylation, protein phosphorylation, regulation of transcription, DNA-templated, regulation of cell growth, mitotic cell cycle, 1006 1510 1796 1408 1870 2403 1247 1337 1644 ENSG00000248334 chr15 28737583 28759204 + WHAMMP2 transcribed_unprocessed_pseudogene 0 0 2 0 0 1 0 0 0 ENSG00000248335 chr4 140712168 140716081 + AC096733.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248336 chr4 62510469 62510771 + HMGN1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248337 chr5 17654373 17654643 - AC233724.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248338 chr4 29214398 29221162 + LINC02472 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248339 chr4 171289475 171298267 - LINC02504 lincRNA 101928288 0 0 0 0 0 0 0 0 0 ENSG00000248340 chr4 26873561 26874349 - AC106047.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248343 chr4 21697450 21719026 + AC096576.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248346 chr4 146957438 146975457 + AC092435.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248347 chr8 47089572 47198861 - AC120036.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248349 chr5 35896188 35896290 - AC112204.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248350 chr5 112363456 112363666 - AC010265.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248351 chr5 136381268 136381511 - HSPD1P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248355 chr5 175290731 175291252 + ARL2BPP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248356 chr4 145642336 145650624 - AC093864.1 antisense 1 0 1 1 0 1 1 1 4 ENSG00000248358 chr14 21714795 21716262 - AC243972.1 lincRNA 1 0 1 0 0 0 0 0 0 ENSG00000248359 chr5 68531690 68533530 - AC010280.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248360 chr4 14470465 14888169 - LINC00504 lincRNA 201853 0 0 2 0 0 1 0 0 0 ENSG00000248362 chr5 147886086 147886878 - AC011352.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248363 chr5 86353803 86368854 + AC016550.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248364 chr4 9459255 9460244 + OR7E86P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248365 chr3 98119191 98119731 + POU5F1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248366 chr14 22487183 22487245 + TRAJ51 TR_J_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248367 chr5 180293245 180295253 + AC008610.1 antisense 3 4 7 6 3 7 2 0 13 ENSG00000248369 chr4 132435802 132447235 - AC114741.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248370 chr4 188160065 188161139 + LINC02434 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248371 chr5 72574120 72660669 - LINC02056 lincRNA 102477328 0 0 0 0 0 0 0 0 0 ENSG00000248373 chr4 104907357 105120000 + AC096577.1 lincRNA 0 0 2 1 0 0 0 2 0 ENSG00000248374 chr3 143620528 143627690 + AC073358.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248375 chr4 52720081 52720831 - AC104066.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000248376 chr4 183418890 183419805 - AC112698.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248377 chr3 134385197 134385494 + HMGN1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248378 chr5 31743988 31744451 - AC022447.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248383 chr5 140926369 141012344 + PCDHAC1 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56135 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000248385 chr19 54069895 54081365 - TARM1 protein_coding 441864 GO:0070821, GO:0035579, GO:0016021, GO:0005886, GO:0005886, tertiary granule membrane, specific granule membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0034987, immunoglobulin receptor binding, GO:2000515, GO:0045087, GO:0043312, GO:0002250, negative regulation of CD4-positive, alpha-beta T cell activation, innate immune response, neutrophil degranulation, adaptive immune response, 0 0 0 0 0 1 0 0 0 ENSG00000248387 chr4 158469586 158470702 + AC121161.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248388 chr4 176669621 176706145 + AC093801.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248391 chr5 29380296 29395981 - LINC02064 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248393 chr5 82545862 82546310 - AC026782.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248394 chr4 128155389 128156204 + FOSL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248396 chr4 162521682 162522041 + TOMM22P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248397 chr4 138298856 138312658 - LINC00498 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248399 chr4 2463797 2464124 + AL645924.1 sense_intronic 0 0 0 0 1 0 1 0 0 ENSG00000248400 chr5 82968888 82977153 + ST13P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248401 chr4 83247179 83248206 + AC114781.1 processed_pseudogene 5 0 1 6 8 0 1 1 0 ENSG00000248403 chr5 16192088 16192709 - NACAP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248405 chr22 44702233 44862706 + PRR5-ARHGAP8 protein_coding The PRR5-ARHGAP8 mRNA is an infrequent but naturally occurring read-through transcript of the neighboring proline rich 5, renal (PRR5) and Rho GTPase activating protein 8 (ARHGAP8) genes. The resulting fusion protein contains sequence identity with each individual gene product, and it includes domains characteristic of a RhoGAP protein. The significance of this read-through transcript and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2010]. 553158 0 0 0 0 0 0 0 0 0 ENSG00000248406 chr19 12379746 12383687 - AC008758.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248408 chr4 79663761 79696837 + LINC02469 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248409 chr22 23392553 23394792 + AP000344.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248415 chr15 64528667 64529671 - GAPDHP61 processed_pseudogene 0 1 0 0 5 0 0 3 0 ENSG00000248416 chr4 722275 724034 - AC107464.2 antisense 2 1 2 1 5 4 4 3 0 ENSG00000248417 chr4 33433510 33437877 + AC097535.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248418 chr5 29600676 29600868 + UBL5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248419 chr4 10478524 10478923 - AC110768.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248420 chr4 155457961 155458640 - MTATP6P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248422 chr5 17598432 17598559 - AC233724.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248423 chr8 15688914 15689562 - AC100850.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248424 chr11 5430653 5431602 - OR51K1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248425 chr4 14390439 14393992 + AC006296.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248426 chr5 26669711 26669989 - AC113347.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248428 chr5 110970951 111008899 - AC010395.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248429 chr4 158170752 158202877 + FAM198B-AS1 antisense 285505 1 6 3 5 5 15 9 5 5 ENSG00000248430 chr5 112452703 112452989 - HMGB3P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248431 chr4 162740668 162742048 + AC005150.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248432 chr4 111804418 111809694 - AC139718.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248434 chr4 135067233 135097658 + AC107463.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248439 chr4 112530371 112530672 - RPL23AP94 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248440 chr5 109497877 109499108 + AC091917.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248441 chr15 95209099 95327129 - LINC01197 lincRNA 400456 0 0 0 0 0 0 0 0 0 ENSG00000248442 chr1 159351093 159352026 + OR10J7P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248443 chr5 124829472 124830290 + AC109464.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248444 chr4 24771467 24772420 + HNRNPA1P65 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248445 chr5 116447547 116508276 + SEMA6A-AS1 antisense 0 1 4 6 6 26 1 8 1 ENSG00000248447 chr4 65034634 65036017 - AC107058.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248448 chr4 81919995 81920387 - COX5BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248449 chr5 141426286 141429158 + PCDHGB8P transcribed_unitary_pseudogene 56120 0 0 0 0 0 0 0 0 0 ENSG00000248452 chr4 26111865 26113839 + AC097714.1 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000248455 chr5 17404019 17441694 + LINC02217 lincRNA 101929544 7 1 5 3 5 7 6 1 9 ENSG00000248456 chr4 135112905 135123779 - LINC02485 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248457 chr5 12914068 13032886 - LINC02220 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248458 chr1 66665864 66677027 - AL139147.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248459 chr3 129998531 129998936 + AC083906.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248461 chr5 38148480 38153715 + LINC02119 lincRNA 101929745 0 0 0 0 0 0 0 0 0 ENSG00000248462 chr5 13553654 13553966 - NENFP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248464 chr5 44388732 44413989 + FGF10-AS1 antisense 101927075 0 0 0 0 0 0 0 0 0 ENSG00000248466 chr4 36065060 36065726 - AC098827.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248467 chr5 4831699 4849800 - AC026719.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248468 chr3 131517831 131520880 + AC107027.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248469 chr5 176049678 176062021 - AC139491.1 antisense 100996385 1 1 3 12 0 0 2 2 6 ENSG00000248471 chr5 17642962 17643228 - AC233724.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248472 chr15 101976558 101979093 - DDX11L9 transcribed_unprocessed_pseudogene 100288486 0 0 2 0 0 0 0 0 2 ENSG00000248473 chr5 181191046 181191852 - LINC01962 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248474 chr5 74084068 74103216 - LINC02122 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248475 chr5 58741581 58817099 - AC016642.1 antisense 0 3 1 0 0 0 0 0 0 ENSG00000248476 chr21 29351634 29361894 + BACH1-IT1 sense_intronic 57 51 53 28 46 24 68 40 84 ENSG00000248477 chr5 69607099 69624049 + AC139495.1 transcribed_unprocessed_pseudogene 3 8 6 4 4 5 1 2 5 ENSG00000248479 chr4 65702202 65705553 + AC104137.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248480 chr4 176631392 176633231 - AC093801.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248482 chr5 135124380 135131249 - AC008406.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248483 chr5 93733220 93741637 - POU5F2 protein_coding 134187 GO:0000785, GO:0000785, chromatin, chromatin, GO:0005515, GO:0003677, GO:0000981, GO:0000981, GO:0000978, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 14 13 15 13 8 6 11 14 25 ENSG00000248484 chr5 176707356 176726243 - AC113391.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248485 chr1 161258727 161285450 + PCP4L1 protein_coding 654790 25 12 11 6 9 9 1 2 4 ENSG00000248486 chr5 15192139 15266541 - LINC02149 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248487 chr3 51971426 51981199 + ABHD14A protein_coding 25864 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0016787, hydrolase activity, 5 4 13 17 6 28 32 6 22 ENSG00000248488 chr4 115764099 115764819 - PGAM4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248489 chr5 98929171 98995013 + LINC02062 lincRNA 22 11 16 44 35 50 38 35 39 ENSG00000248490 chr5 27412613 27436411 - AC113355.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248491 chr4 127096891 127470569 - AC093772.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248492 chr8 134598071 134600689 + ZFAT-AS1 antisense This gene encodes a small antisense RNA that may be involved in regulating the sense strand locus, zinc finger and AT hook domain containing. This RNA may play a role in B cell function. A single nucleotide polymorphism in the promoter of this gene is associated with an increased risk of autoimmune thyroid disease.[provided by RefSeq, Jan 2010]. 594840 GO:0010629, negative regulation of gene expression, 13 13 19 1 6 0 3 1 6 ENSG00000248493 chr5 145997218 145998003 + AC005351.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248494 chr4 53592956 53604047 + LNX1-AS2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000248498 chr8 46579213 46638886 - ASNSP1 transcribed_unprocessed_pseudogene 389652 0 0 0 0 0 0 0 0 0 ENSG00000248503 chrX 77910741 77964890 + AL356235.1 transcribed_processed_pseudogene 79 55 85 28 56 56 40 47 67 ENSG00000248505 chr4 57425872 57465986 + LINC02380 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248506 chr4 124435750 124437120 - AC097474.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248507 chr3 98222044 98222966 + OR5H4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248508 chr15 40039311 40067290 + SRP14-AS1 lincRNA 100131089 6 1 5 17 1 6 5 4 5 ENSG00000248510 chr4 96310701 96818864 + LINC02267 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248511 chr4 92297251 92304178 - AC112695.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248514 chr5 181205361 181206120 - AC008443.3 antisense 1 0 0 1 0 0 0 0 0 ENSG00000248515 chr4 19455436 19909692 + AC024230.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248516 chr4 4321962 4334182 + AC105415.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248517 chr4 184988997 185005186 + LINC02437 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000248518 chr4 54376002 54376752 + AC098587.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248521 chr4 150422645 150423642 - AC092612.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248522 chr8 55449509 55455139 - SBF1P1 processed_pseudogene 100133234 0 0 0 0 0 0 0 0 0 ENSG00000248525 chr5 9621377 9658458 - AC026787.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000248527 chr1 633696 634376 + MTATP6P1 unprocessed_pseudogene 689 631 651 1942 1383 1269 1652 748 977 ENSG00000248528 chr5 92907180 92939591 - LINC02058 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248529 chr5 61658474 61698432 - AC026746.1 antisense 101928651 0 0 0 0 0 0 0 0 0 ENSG00000248530 chr3 131526447 131527179 + BCL2L12P1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000248531 chr8 47164870 47165524 + NDUFA5P12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248532 chr4 49523648 49523857 - AC119751.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248533 chr5 37953402 37966964 + AC034226.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248537 chr5 9363275 9422481 + AC091906.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248538 chr8 9151695 9425524 + AC022784.1 lincRNA 157273 0 1 1 7 0 0 0 0 0 ENSG00000248539 chr5 37899363 37920869 - LINC02117 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248540 chr15 74125915 74129278 - AC010931.2 lincRNA 283731 0 0 0 1 0 0 0 0 0 ENSG00000248542 chr5 17649046 17649643 + AC233724.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248543 chr4 82010665 82013095 - NPM1P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248544 chr5 157375741 157384950 - AC008676.1 antisense 9 12 15 15 28 45 22 22 22 ENSG00000248545 chr4 25608711 25619468 + AC092436.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248546 chr4 164197007 164197711 - ANP32C processed_pseudogene Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]. 23520 GO:0048471, GO:0005634, perinuclear region of cytoplasm, nucleus, GO:0042393, histone binding, GO:0042981, GO:0006913, regulation of apoptotic process, nucleocytoplasmic transport, 2 3 4 3 4 0 1 3 3 ENSG00000248547 chr4 68883885 68884440 - AC021146.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248548 chr4 155455050 155456411 - MTND4P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248550 chr14 56813183 57152177 + OTX2-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248551 chr4 175346358 175403110 - AC095050.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248552 chr4 159375099 159375322 - AC074344.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248553 chr11 5551662 5552563 - OR52H2P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248554 chr5 43511058 43521811 + AC114956.2 antisense 0 3 0 0 0 0 0 0 6 ENSG00000248555 chr5 90158339 90290071 - LINC01339 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000248557 chr3 126624792 126626061 + AC024558.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000248559 chr5 134399495 134401921 + AC109454.2 antisense 0 3 4 8 4 28 5 2 12 ENSG00000248560 chr5 181114106 181115674 + AC008620.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248564 chr4 338097 338583 - AC079140.1 processed_pseudogene 0 1 0 1 0 4 2 1 2 ENSG00000248565 chr4 124462863 124463790 - TECRP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248567 chr4 71821305 71823980 - AC068721.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248568 chr5 146706381 146707600 - KRT8P48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248569 chr5 80351021 80351956 - CRSP8P processed_pseudogene 4 17 14 5 18 4 5 4 6 ENSG00000248571 chr4 152666368 152670107 + AC106882.1 antisense 38 33 38 4 3 1 13 11 10 ENSG00000248572 chr5 38399814 38403413 - EGFLAM-AS2 antisense 100506475 0 0 0 1 0 1 2 0 0 ENSG00000248573 chrY 18790709 18791051 - PRYP6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248574 chr4 175574868 175576140 + ADAM20P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248576 chr12 54163139 54168595 + AC023794.1 antisense 2 2 0 0 0 0 1 2 0 ENSG00000248577 chr5 38763158 38764289 - AC091435.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248578 chr8 56101199 56102267 - NPM1P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248583 chr4 49486926 49489554 - AC119751.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248585 chr8 38201699 38204238 - AC084024.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248586 chr5 57317989 57320020 - AC025470.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248587 chr5 37811589 37953827 + GDNF-AS1 antisense 0 0 0 0 0 0 0 0 3 ENSG00000248588 chr5 92826255 92844004 + AC008517.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248590 chr4 56593004 56595681 + GLDCP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248591 chr5 23456468 23456850 + AC109445.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248592 chr3 52833121 52897562 - TMEM110-MUSTN1 protein_coding This locus represents naturally occurring read-through transcription between the neighboring TMEM110 (transmembrane protein 110) and MUSTN1 (musculoskeletal, embryonic nuclear protein 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]. 100526772 9 18 12 9 7 17 6 5 12 ENSG00000248593 chr12 6884682 6885786 + DSTNP2 transcribed_unprocessed_pseudogene 171220 8 8 12 40 64 41 27 35 20 ENSG00000248596 chr5 176143085 176185155 - AC139491.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000248597 chr5 1963609 1967154 - AC126768.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248599 chr8 101052054 101076251 + FLJ42969 lincRNA 441374 0 0 0 0 0 0 0 0 0 ENSG00000248600 chr5 124455373 124460098 + AC025465.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248601 chr4 167946674 168113331 - AC116634.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248605 chr5 25404733 25445925 - AC022140.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248607 chr3 126056923 126058228 + AC117422.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248608 chr4 25504997 25506675 + AC133963.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248610 chr5 130140031 130141950 + HSPA8P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248611 chr4 154555208 154555985 + AC107385.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248613 chr4 68900651 68900910 - AC021146.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248616 chr5 136857628 136858342 + AC109439.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248618 chr3 130167790 130168030 - ENPP7P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248621 chr4 140600401 140600575 - AC108019.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248624 chr5 31657218 31665067 + AC022447.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000248625 chr4 169832653 169833363 + AC079768.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248626 chr5 159950493 159951498 - GAPDHP40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248627 chr4 92833685 92838842 - AC095059.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248629 chr4 156841359 156842236 + AC092608.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248632 chr4 164968587 164970002 - AC106872.5 processed_pseudogene 1 2 0 1 0 2 0 0 4 ENSG00000248633 chr4 112693459 112693792 - WRBP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248634 chr5 128663978 128742829 + AC008588.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000248635 chr4 68704600 68712498 - AC147055.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248636 chr12 119387987 119668079 - AC002070.1 lincRNA 8 30 23 4 18 19 8 7 9 ENSG00000248637 chr4 172380028 172380487 - AC108064.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248639 chr4 68293127 68294364 + AC098799.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248640 chr4 77987860 77988813 - HNRNPA1P56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248641 chr4 73098822 73099145 + HMGA1P2 processed_pseudogene 1 0 0 3 2 2 2 1 0 ENSG00000248642 chr1 159279041 159280001 - OR10J2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248643 chr11 66616626 66646469 + RBM14-RBM4 protein_coding This locus represents naturally occurring read-through transcription between the neighboring RBM14 (RNA binding motif protein 14) and RBM4 (RNA binding motif protein 4) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This fusion protein contains RRM and zinc finger domains, and it functions to stimulate transcription in a hormone and receptor-dependent manner. [provided by RefSeq, Nov 2010]. 100526737 3 3 10 13 22 9 5 15 11 ENSG00000248645 chr4 164938322 164939990 - AC106872.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248646 chr4 75361207 75434449 - AC096759.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248647 chr5 149163955 149276776 - AC012613.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248648 chr5 133003119 133003365 + AC113410.1 processed_pseudogene 6 5 5 8 7 4 7 7 11 ENSG00000248651 chr5 39888576 39889059 - GCSHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248652 chr5 57081745 57081951 - AC034244.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248654 chr4 25720516 25721056 - MTCO3P44 unprocessed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000248656 chr4 111640495 111648808 + AC083795.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248659 chr3 129632019 129632492 - AC023162.1 unprocessed_pseudogene 0 1 0 2 3 0 0 1 3 ENSG00000248660 chr4 58103147 58103434 + SRIP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248663 chr5 117415509 117546298 + LINC00992 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248664 chr5 69113112 69136394 - AC010273.1 antisense 67 52 77 51 63 48 50 45 53 ENSG00000248667 chr5 85420028 85420451 - AC010486.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248668 chr5 41870030 41872241 + OXCT1-AS1 processed_transcript 100874002 1 0 6 8 1 7 6 2 0 ENSG00000248669 chr4 4117925 4118284 - AC116562.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248671 chr11 71794363 71818238 - ALG1L9P processed_transcript 285407 0 0 0 2 0 3 2 0 0 ENSG00000248672 chr2 159771851 159904710 - LY75-CD302 protein_coding This locus represents naturally occurring read-through transcription between the neighboring lymphocyte antigen 75 (LY75) and CD302 molecule (CD302) genes. Alternative splicing results in multiple transcript variants encoding fusion products that share sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]. 100526664 0 0 0 0 0 0 0 0 0 ENSG00000248673 chr5 74369376 74536976 - LINC01331 lincRNA 104310351 3 0 0 5 2 0 0 0 0 ENSG00000248674 chr5 85190629 85190830 - RBBP4P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248676 chr4 99594799 99625913 - AC083902.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248677 chr5 6686325 6707711 - LINC02102 lincRNA 100505625 0 0 1 0 0 0 0 2 0 ENSG00000248682 chr10 48510525 48511589 - ARHGAP22-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000248684 chr5 75910565 75911867 + BIN2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248685 chr4 34120894 34269747 - LINC02484 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248687 chr5 29104880 29105438 + AC024589.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248690 chr8 121639293 121993876 + HAS2-AS1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000248692 chr4 62071752 62165554 - ADGRL3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248693 chr5 18704433 18746173 - LINC02100 lincRNA 0 0 2 0 0 1 2 0 10 ENSG00000248694 chr4 182772565 182773931 - AC079226.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248696 chr5 150014785 150015154 - AC011406.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248697 chr4 112455924 112457785 + TOX4P1 processed_pseudogene 2 5 3 0 8 4 4 3 1 ENSG00000248698 chr4 14111968 14140052 + LINC01085 transcribed_processed_pseudogene 152742 0 0 0 0 0 0 0 0 0 ENSG00000248699 chr5 15450701 15451811 + AC114964.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000248701 chr5 86797685 86800280 + AC008539.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248702 chr17 50797366 50797651 - AC005921.1 processed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000248703 chr12 131296110 131297972 - LINC02415 lincRNA 107161159 0 0 0 0 0 0 0 0 0 ENSG00000248704 chr7 64104093 64105295 - MTND4P2 unprocessed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000248705 chr2 233750617 233753656 + AC114812.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248708 chr5 87713135 87733269 - LINC02144 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248709 chr5 115738978 115756527 + AC008549.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248710 chr3 160227454 160449829 - AC079594.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000248711 chr7 40151613 40154151 + THUMPD3P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248712 chr11 119189638 119196769 - CCDC153 protein_coding 283152 GO:0005515, protein binding, 64 47 69 41 94 93 86 81 88 ENSG00000248713 chr4 99636529 99654648 - C4orf54 protein_coding 285556 0 0 0 0 0 0 0 0 0 ENSG00000248714 chr17 49361165 49369998 + AC091180.2 lincRNA 8 8 16 8 4 3 5 5 3 ENSG00000248715 chr4 131540281 131540489 + AC105424.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248716 chr4 114103938 114104225 + AC093815.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248717 chr5 180684766 180686546 + LINC02222 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248719 chr4 80183280 80190169 - AC021127.1 antisense 4 10 10 2 8 3 11 2 9 ENSG00000248720 chr8 126174186 126175014 - RFPL4AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248722 chr5 115402380 115402962 + AK3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248724 chr3 132721750 132874223 + NPHP3-AS1 antisense 348808 10 18 14 22 15 4 13 13 3 ENSG00000248725 chr4 85246157 85246912 + AC097488.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248727 chr5 56457795 56481946 - LINC01948 lincRNA 102467147 18 29 13 22 20 8 21 25 6 ENSG00000248729 chr5 5395378 5395957 - MTCO1P30 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000248730 chr5 38282264 38290986 - EGFLAM-AS4 antisense 100852408 0 0 0 0 0 0 0 0 0 ENSG00000248733 chr5 58846885 58863414 - AC008852.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248734 chr5 96784777 96785999 + AC008906.1 antisense 59 51 65 31 36 51 39 35 52 ENSG00000248735 chr4 133124104 133126063 + R3HDM2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248736 chr5 2965006 2967628 + AC112192.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248738 chr8 22877972 22888022 + AC037441.1 antisense 101929237 0 0 0 0 0 0 0 0 0 ENSG00000248739 chr4 170141292 170142532 - AC069306.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248740 chr4 103256159 103453658 + LINC02428 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248744 chr4 45009540 45051652 + AC108467.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248745 chr4 145456005 145456844 + NMNAT1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248746 chr11 66546395 66563329 + ACTN3 protein_coding This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]. 89 GO:0070062, GO:0031143, GO:0005925, GO:0005884, GO:0005829, extracellular exosome, pseudopodium, focal adhesion, actin filament, cytosol, GO:0044325, GO:0042802, GO:0008307, GO:0005515, GO:0005509, GO:0005178, GO:0003779, ion channel binding, identical protein binding, structural constituent of muscle, protein binding, calcium ion binding, integrin binding, actin binding, GO:1904025, GO:1903715, GO:0120163, GO:0090324, GO:0070885, GO:0048633, GO:0048041, GO:0045820, GO:0042981, GO:0030049, GO:0014894, GO:0014883, GO:0014732, GO:0014728, positive regulation of glucose catabolic process to lactate via pyruvate, regulation of aerobic respiration, negative regulation of cold-induced thermogenesis, negative regulation of oxidative phosphorylation, negative regulation of calcineurin-NFAT signaling cascade, positive regulation of skeletal muscle tissue growth, focal adhesion assembly, negative regulation of glycolytic process, regulation of apoptotic process, muscle filament sliding, response to denervation involved in regulation of muscle adaptation, transition between fast and slow fiber, skeletal muscle atrophy, regulation of the force of skeletal muscle contraction, 1 0 3 2 0 4 0 0 0 ENSG00000248747 chr4 141240739 141278789 - AC107220.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000248748 chr4 155453049 155454803 - MTND5P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248749 chr4 84371393 84380189 - AC104063.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248750 chr4 92884663 92885107 + AC020699.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248751 chr22 30285238 30299482 - AC004997.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000248752 chr5 126076800 126279801 - AC010235.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248753 chr5 135120526 135139681 + AC008406.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248755 chr4 171169209 171169942 - AC092639.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248757 chr5 103528434 103541985 - LINC02115 lincRNA 102467212 0 0 0 0 0 0 0 0 0 ENSG00000248758 chr5 97188090 97201880 - AC008883.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248761 chr5 180967848 180968567 + AC091874.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248762 chr8 95986108 95993103 - AC012339.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248763 chr4 69066395 69069888 + AC111000.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248764 chr4 146934001 146945471 + AC092435.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248765 chr5 8619178 8620310 + MTCYBP37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248766 chr5 20158662 20158956 - AC093303.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248767 chr7 290170 294422 + AC187653.1 protein_coding 116033993 0 0 0 0 0 0 0 0 0 ENSG00000248769 chr5 69653248 69654334 + AC139495.2 unprocessed_pseudogene 0 0 0 0 0 0 2 1 1 ENSG00000248770 chr4 181237358 181237564 - AC019235.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248771 chr4 164754064 164803795 + SMIM31 protein_coding 100505989 GO:0030424, GO:0016021, axon, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000248772 chr3 155375683 155375790 - AC108729.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248773 chr3 140972744 140973255 + AC108727.1 sense_intronic 2 0 0 9 4 0 2 6 4 ENSG00000248774 chr4 173322206 173329694 - AC097534.1 antisense 48 35 66 52 59 56 59 19 51 ENSG00000248775 chr5 7287924 7288477 - AC091951.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248777 chr4 10199823 10200672 - AC006499.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248778 chr4 105679050 105680094 - AC105391.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248779 chr5 44752949 44765744 + AC093297.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248780 chr4 40786110 40786710 + ARL4AP2 processed_pseudogene 8 5 1 10 11 0 7 10 4 ENSG00000248781 chr5 56275304 56276630 - PSMC1P4 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000248783 chr5 12553890 12574637 - AC106771.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248785 chr4 109673843 109674124 + HIGD1AP14 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000248787 chr3 125907765 125916360 - AC092903.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000248789 chr5 52008031 52080987 + LINC02118 lincRNA 105378960 0 0 0 0 0 0 0 0 0 ENSG00000248790 chr3 139466430 139466795 + AC097103.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248791 chr5 14620020 14621313 + AC010627.1 processed_pseudogene 6 4 7 2 13 7 7 14 2 ENSG00000248792 chrY 24278681 24291346 + LINC00266-2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248794 chr5 81242330 81242599 - AC026436.1 processed_pseudogene 1 0 0 0 0 0 0 0 1 ENSG00000248795 chr4 138560704 138561941 + AC098859.1 processed_pseudogene 0 0 1 0 0 1 0 0 0 ENSG00000248796 chr2 131201142 131202941 - MED15P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248799 chr5 127651693 127664029 - AC022118.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248801 chr8 68303468 68331491 - C8orf34-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248802 chr4 128582999 128601407 - AC078850.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248803 chr5 66622868 66623177 + AC092349.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248807 chr17 41212706 41213237 + KRTAP9-12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248809 chr4 146109455 146121913 - LINC01095 lincRNA 100505545 0 0 0 0 0 0 0 0 0 ENSG00000248810 chr4 141319450 141332618 - LINC02432 lincRNA 100507639 1 1 6 1 7 20 12 4 29 ENSG00000248813 chr5 31741833 31742327 - AC022447.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248816 chr4 182697902 182708042 - AC079226.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248817 chr4 92182477 92184052 - PMPCAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248820 chr4 100041841 100042104 - DYNLL1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248821 chr2 95413456 95414296 - AC009238.3 unprocessed_pseudogene 1 0 1 2 0 2 7 1 12 ENSG00000248822 chr4 170099818 170100104 + APOBEC3AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248824 chr4 69406931 69407655 + AC108078.1 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000248826 chr5 91843687 91844529 - PCBP2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248827 chr5 107724961 107727117 + AC024587.1 processed_pseudogene 0 0 0 0 0 0 0 3 0 ENSG00000248830 chr19 34542462 34545395 - ZNF807 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248831 chr4 77350370 77351235 - AC008638.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248834 chr5 15384220 15384853 + MARK2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248837 chr4 22997551 23056862 + AC097512.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248838 chr8 107647279 107648032 + PGAM1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248839 chr3 98522570 98525334 + AC021660.2 antisense 3 7 19 12 12 24 18 2 19 ENSG00000248840 chr4 3312512 3313058 + AL645949.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248842 chr5 146400981 146407359 + AC011396.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248843 chr4 3323977 3324762 - AL645949.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248844 chr11 70056230 70065371 - AP003555.1 lincRNA 101928443 0 0 0 0 0 0 0 0 0 ENSG00000248846 chr5 66206212 66209447 - LINC02065 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248847 chr4 62489495 62490218 - AC074087.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248848 chr4 74054038 74055399 - PPBPP2 transcribed_unprocessed_pseudogene 10895 0 0 0 0 0 4 0 0 1 ENSG00000248850 chr3 126672106 126673223 - AC078867.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248851 chr4 16307456 16308167 + AC006427.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248853 chr5 121059244 121060953 + AC113352.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248854 chr5 55838801 55840025 - HNRNPH1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248858 chr8 92699742 92879502 - FLJ46284 processed_transcript 441369 1 3 4 4 2 0 0 0 0 ENSG00000248859 chr5 176743205 176743871 + LINC01574 lincRNA 102577424 0 0 0 0 0 0 0 0 0 ENSG00000248863 chr4 139426299 139430884 - AC097376.1 transcribed_processed_pseudogene 5 3 6 3 2 8 4 3 0 ENSG00000248864 chr5 92329230 92332584 + AC114316.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248866 chr4 52659406 52661668 + USP46-AS1 lincRNA 0 0 1 3 0 3 0 4 2 ENSG00000248867 chr5 109448349 109449063 - AC010625.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000248869 chr4 136796722 137212799 - LINC02511 lincRNA 105377441 0 0 0 0 0 0 0 0 0 ENSG00000248870 chr5 82586776 82587411 - AC026782.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248871 chr17 7549099 7561601 + TNFSF12-TNFSF13 protein_coding This gene encodes a member of the tumor necrosis factor superfamily. It encodes a hybrid protein composed of the cytoplasmic and transmembrane domains of family member 12 fused to the C-terminal domain of family member 13. The hybrid protein is membrane anchored and presents the receptor-binding domain of family member 13 at the cell surface. It stimulates cycling in T- and B-lymphoma cell lines. [provided by RefSeq, Jul 2008]. 407977 0 0 0 0 0 0 0 0 0 ENSG00000248872 chr4 171040602 171059163 + LINC02431 lincRNA 100506122 0 0 0 0 0 0 0 0 0 ENSG00000248873 chr5 42465400 42468868 - SERBP1P6 processed_pseudogene 0 2 0 1 0 0 0 0 0 ENSG00000248874 chr5 23951348 24178263 + C5orf17 lincRNA 439936 0 0 0 0 0 0 0 0 0 ENSG00000248876 chr5 109470843 109471586 + AC091917.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248877 chr4 130494673 130495285 + PGBD4P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248878 chr5 31725539 31725902 - AC022447.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248880 chr4 188387471 188389666 - ICE2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248881 chr5 75598482 75599380 - AC010245.1 antisense 14 30 14 15 24 41 20 17 20 ENSG00000248883 chr17 49085511 49086702 + B4GALNT2P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248884 chr5 68430427 68434481 - AC010280.2 lincRNA 3 0 6 1 1 0 0 1 0 ENSG00000248885 chr5 119126782 119128444 - AC118465.1 processed_pseudogene 0 2 0 1 0 1 2 0 1 ENSG00000248886 chr4 69517667 69518400 - UGT2A3P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248890 chr4 144642922 144661357 - HHIP-AS1 antisense 646576 0 0 0 0 0 0 0 0 0 ENSG00000248891 chr5 51427996 51428427 - AC091860.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248893 chr15 101954885 101956412 + FAM138E lincRNA 100124412 0 0 0 0 0 0 0 0 0 ENSG00000248895 chr17 48881122 48881316 + AC068531.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248896 chr8 10729314 10771392 + AC105001.1 antisense 102723313 0 3 0 1 0 3 0 0 0 ENSG00000248898 chr5 52675193 52788026 - AC022126.1 antisense 3 1 3 0 3 13 0 3 7 ENSG00000248901 chr5 98086260 98161193 - LINC01846 lincRNA 105379098 0 0 0 0 0 0 0 0 0 ENSG00000248903 chr11 71568680 71568934 + AP000867.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248905 chr15 32765545 33194733 - FMN1 protein_coding This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]. 342184 GO:0005912, GO:0005886, GO:0005884, GO:0005789, GO:0005737, GO:0005634, adherens junction, plasma membrane, actin filament, endoplasmic reticulum membrane, cytoplasm, nucleus, GO:0017124, GO:0008017, GO:0003779, SH3 domain binding, microtubule binding, actin binding, GO:0072092, GO:0051894, GO:0051127, GO:0048705, GO:0045010, GO:0035137, GO:0035136, GO:0010467, ureteric bud invasion, positive regulation of focal adhesion assembly, positive regulation of actin nucleation, skeletal system morphogenesis, actin nucleation, hindlimb morphogenesis, forelimb morphogenesis, gene expression, 6 3 20 13 2 23 7 6 22 ENSG00000248907 chr4 155461633 155462663 - MTND2P33 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248908 chr5 24835280 24840583 - LINC02239 lincRNA 340107 0 0 0 0 0 0 0 0 0 ENSG00000248909 chr5 78644265 78644845 - HMGB1P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248911 chr8 52975111 52976116 - AC009800.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248912 chr4 156686664 156692636 + AC096736.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248913 chr4 167648430 167648796 + PHBP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248915 chr4 106836498 106837601 - ACTR6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248916 chr3 129323046 129325426 - NUP210P3 unprocessed_pseudogene 1 3 0 0 0 4 0 0 0 ENSG00000248918 chr5 50969660 50970187 + AC008808.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248919 chr7 99419749 99466197 - ATP5MF-PTCD1 protein_coding This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]. 100526740 9 6 9 4 4 8 4 9 4 ENSG00000248920 chr4 9253378 9255329 + USP17L19 protein_coding 100287404 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000248921 chr4 179856853 179857581 + AC021193.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248923 chr5 134924648 134926459 - MTND5P11 processed_pseudogene 0 1 2 0 1 1 0 0 1 ENSG00000248924 chr4 143555082 143555583 - AC139713.1 transcribed_processed_pseudogene 1 2 5 2 2 2 4 4 3 ENSG00000248925 chr5 269858 271516 - HRAT5 antisense 2 4 4 1 1 0 4 0 0 ENSG00000248926 chr4 77958000 77958780 - AC114801.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248927 chr5 120781218 120790778 + AC114284.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248928 chr5 99594880 99595297 + AC008837.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248929 chr5 174632932 174633209 + HIGD1AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248930 chr5 73020700 73021279 - AC020893.1 processed_pseudogene 1 0 1 2 1 0 1 0 7 ENSG00000248931 chr5 97677547 97678681 - MTCYBP40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248932 chr3 139389815 139583319 + AC097103.2 antisense 100507291 2 3 6 4 4 7 5 6 8 ENSG00000248933 chr4 9267619 9269570 + USP17L22 protein_coding 100287513 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000248935 chr5 60021249 60033020 + AC034234.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248936 chr4 37588087 37588875 - AC027607.1 antisense 52 52 42 42 72 58 69 58 65 ENSG00000248939 chr4 43133867 43234956 + AC111198.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248942 chr5 74306410 74308325 - LINC01335 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248943 chr5 177801204 177803344 - AC140125.1 lincRNA 0 0 1 1 0 0 0 0 0 ENSG00000248944 chr8 7549053 7552062 - FAM90A6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248946 chr4 49246601 49246915 + MTND3P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248949 chr5 946315 956520 + AC122719.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248950 chr5 92840807 92841628 - LDHBP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248951 chr5 1370543 1370945 - MTCO2P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248954 chr17 49887598 49900893 + AC027801.1 lincRNA 0 0 1 0 0 2 0 0 0 ENSG00000248955 chr5 131008583 131008742 + AC113367.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248956 chr4 77963940 77964511 + HMGB1P44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248958 chr4 129135926 129139740 - ZSWIM5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248962 chr5 4012708 4013649 - AC025773.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248964 chr8 29815004 29854543 - AC131254.1 lincRNA 101929470 0 0 1 0 0 0 0 3 0 ENSG00000248965 chr5 168993000 168995677 + AC011389.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248966 chr5 110948029 110950780 - BCLAF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248967 chr5 80746339 80746819 - AC022493.2 processed_pseudogene 0 0 0 0 1 0 0 1 1 ENSG00000248968 chr5 10248325 10249915 + AC012640.1 antisense 2 1 0 0 2 0 0 1 4 ENSG00000248969 chr5 35678484 35827018 - AC137810.1 antisense 0 0 0 0 2 4 0 0 0 ENSG00000248971 chr4 102728746 102730171 - KRT8P46 processed_pseudogene 47 27 64 20 8 21 61 13 30 ENSG00000248973 chr5 4451930 4866221 - AC106799.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248975 chr14 29952397 30297043 - AL133372.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248977 chr4 40142198 40142365 - AC095057.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248978 chr8 84828573 84829479 - AC009901.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248979 chr5 119132651 119132882 - LAMTOR3P2 processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000248980 chr4 176308268 176320458 - AC019163.1 antisense 133 122 143 44 79 80 78 65 79 ENSG00000248984 chr4 91108023 91112790 - AC004054.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000248987 chr4 44944015 44944961 - PRDX4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248988 chr4 159007119 159007835 + AC093700.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000248990 chr11 28679183 28683469 + AC100773.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000248991 chr4 151919468 151943933 + AC097375.1 lincRNA 0 0 0 0 0 0 3 1 0 ENSG00000248993 chr6 32937364 32953122 - AL645941.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000248994 chr5 1933863 1959176 + AC126768.2 lincRNA 105374618 0 0 0 0 0 0 0 0 0 ENSG00000248995 chr12 64920845 64982524 - LINC02231 lincRNA 109729131 0 0 0 0 0 0 0 0 0 ENSG00000248996 chr5 177494995 177503647 + AC145098.1 antisense 853 678 1287 436 441 451 561 420 447 ENSG00000248998 chr4 65142703 65145763 - EFL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249000 chr4 134759399 134817289 + AC093722.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249001 chr4 87568035 87733956 - AC093895.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249002 chr4 119006032 119006401 + AC096745.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249003 chr4 190057902 190063005 - CLUHP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249004 chr4 147458724 147459321 - PRMT5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249005 chr8 7272148 7275158 + FAM90A4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249006 chr4 2088718 2090617 - AL136360.1 processed_pseudogene 0 0 0 0 0 0 0 0 7 ENSG00000249007 chr1 202011370 202015657 + AL691482.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000249008 chr4 177242539 177248773 - AC097518.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249012 chr4 151259503 151262849 + AC104819.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249013 chr4 156006478 156006988 + FTH1P21 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000249014 chr5 76242024 76242404 - HMGN2P4 processed_pseudogene 2 3 3 1 3 3 0 1 0 ENSG00000249016 chr5 54956235 54957846 - AC112198.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249017 chr5 102500541 102505670 + AC094108.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249018 chr4 130503357 130504344 - GAPDHP56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249019 chr4 39713842 39714451 - AC108471.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249020 chr3 131479097 131479233 - SNORA58 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000249021 chr5 115691462 115692167 - AC008549.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249022 chr4 153034211 153091165 + AC093599.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249023 chr5 85429702 85430184 + AC010486.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249025 chr4 393534 393658 + ZNF519P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249026 chr5 115389643 115392370 - CTNNA1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249028 chr12 1380060 1391502 - AC004672.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249031 chr5 174561776 174562063 + SUMO2P6 processed_pseudogene 1 3 2 0 0 0 1 1 1 ENSG00000249035 chr5 151676945 151724782 + CLMAT3 antisense 101927096 0 0 0 0 0 0 0 0 0 ENSG00000249036 chr4 77394491 77494286 - AC092674.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249038 chr4 132592084 132592536 + AARSP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249041 chr4 154754756 154781873 - AC009567.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249042 chr5 80482293 80488063 - AC008771.1 antisense 10 12 12 25 5 27 11 8 13 ENSG00000249045 chr4 64610980 64611308 - MTND3P24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249047 chr4 2234251 2234499 + COX6B1P5 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000249048 chr14 22177273 22177864 + TRAV31 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249049 chr4 91319034 91325306 - AC074124.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249050 chr8 9453698 9457418 + AC021242.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249051 chr4 73777636 73778060 - AC112518.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249052 chr4 91887886 91904335 + AC093810.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249053 chr5 12794731 12795522 + AC106794.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249054 chr12 36602 38133 - FAM138D lincRNA 677784 0 0 0 0 0 0 0 0 0 ENSG00000249055 chr4 98909537 98909848 - TBCAP3 transcribed_processed_pseudogene 0 0 0 0 0 3 3 0 0 ENSG00000249056 chr4 184559175 184559783 - AC099343.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249057 chr5 66662331 66662988 + MAST4-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000249061 chr5 86967321 87137712 + AC109492.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249064 chr4 40020240 40021517 + KRT18P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249065 chr4 99160514 99161645 - PCNAP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249066 chr4 60750586 60789999 + LINC02496 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249068 chr5 109840128 109840692 - AC008417.1 processed_pseudogene 2 2 0 3 0 7 0 3 7 ENSG00000249069 chr5 54320944 54415125 + LINC01033 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000249071 chr5 38345347 38346551 - EGFLAM-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249072 chr4 78008512 78008688 - AC114801.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249073 chr5 133913677 133917269 + WSPAR lincRNA 105664404 0 0 0 0 0 0 0 0 0 ENSG00000249074 chr4 154724586 154724880 + NDUFB2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249077 chr4 2324467 2325082 + AL158068.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249079 chr4 49212251 49212624 - AC118282.2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000249081 chr4 41722538 41723512 - OR5M14P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249082 chr5 135038831 135040047 - C5orf66-AS1 lincRNA 101927953 0 0 0 0 0 0 0 0 0 ENSG00000249084 chr4 177343004 177357032 - AC027627.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249085 chr5 72794405 72816565 - AC035140.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249086 chr11 1864177 1866667 + AC051649.1 sense_overlapping 5 9 11 9 7 10 6 5 0 ENSG00000249087 chr1 23368997 23371839 + ZNF436-AS1 antisense 0 3 3 1 0 3 1 1 0 ENSG00000249089 chr5 39022411 39022558 + AIG1P1 unprocessed_pseudogene 2 2 1 11 10 2 5 4 1 ENSG00000249091 chr4 138277115 138281784 - AC093903.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249092 chr5 42892319 42892817 - PPIAP77 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000249094 chr12 109880676 109888467 + AC007834.1 lincRNA 0 0 5 1 0 4 0 5 0 ENSG00000249096 chr4 184365183 184382306 - LINC02362 lincRNA 50 66 62 33 65 68 62 72 105 ENSG00000249098 chr3 130918226 130919120 - AC055733.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249099 chr5 26382519 26399819 - AC025475.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249100 chr5 82765404 82766333 + AC008885.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249101 chr5 98025965 98026139 + AC008834.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249102 chr5 33008994 33025724 + AC034223.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249104 chr4 9243879 9245830 + USP17L17 protein_coding 100287327 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000249105 chr4 58117758 58118070 - AC096725.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249106 chr4 175790307 175812189 + AC097537.1 antisense 101928590 0 0 0 0 0 0 0 0 0 ENSG00000249109 chr5 177782197 177794396 + AC140125.2 antisense 0 0 0 6 2 5 0 0 0 ENSG00000249111 chr4 59152834 59176146 + AC108517.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249112 chr5 124707827 124710737 + AC112196.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249114 chr5 31738269 31738660 + AC022447.5 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000249115 chr19 35612744 35625349 + HAUS5 protein_coding HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]. 23354 GO:0070652, GO:0070652, GO:0005874, GO:0005829, GO:0005819, GO:0005813, GO:0005813, HAUS complex, HAUS complex, microtubule, cytosol, spindle, centrosome, centrosome, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0097711, GO:0051301, GO:0051225, GO:0051225, GO:0010389, GO:0007098, GO:0007098, GO:0000086, ciliary basal body-plasma membrane docking, cell division, spindle assembly, spindle assembly, regulation of G2/M transition of mitotic cell cycle, centrosome cycle, centrosome cycle, G2/M transition of mitotic cell cycle, 16 13 29 70 17 71 29 11 34 ENSG00000249116 chr5 1883966 1884649 + AC025183.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249119 chr5 134924123 134924644 + MTND6P4 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000249122 chr4 41750345 41757341 + AC105389.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249125 chr4 123490268 123522106 + AC093821.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249127 chr4 155456638 155456981 - MTND3P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249128 chr5 118596188 118628092 + LINC02215 lincRNA 102467225 0 0 0 0 0 0 0 0 0 ENSG00000249129 chr5 177971316 177972281 + SUDS3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249131 chr5 139741349 139746223 - PSD2-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249135 chr5 98203059 98205193 + AC116347.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249138 chr4 184798296 184799046 - SLED1 transcribed_processed_pseudogene 643036 137 131 286 158 235 493 257 197 405 ENSG00000249139 chr20 45536986 45547426 - EPPIN-WFDC6 protein_coding This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]. 100526773 0 0 0 0 0 0 0 0 0 ENSG00000249140 chr5 179572156 179572741 + PRDX2P3 processed_pseudogene 4 1 0 0 0 0 0 0 0 ENSG00000249141 chr6 166858094 166956124 - AL159163.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000249142 chr5 32522758 32523865 + AC074134.1 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000249145 chr4 8320117 8327142 + LINC02517 lincRNA 105374374 0 0 0 0 0 0 0 0 0 ENSG00000249148 chr4 13631820 13632599 - AC006445.2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000249149 chr5 73382384 73410509 + AC099522.1 transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000249150 chr5 116820993 116830187 - AC010267.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249152 chr4 92268767 92277075 - LNCPRESS2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249153 chr5 85848502 85849199 + AC026414.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249156 chr5 17610496 17611583 + TAF11L12 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000249157 chr5 75006713 75007012 - AC093259.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249158 chr5 140868183 141012344 + PCDHA11 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56138 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000249159 chr5 8387638 8457564 - AC091965.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000249160 chr5 10504996 10522084 - LINC02213 lincRNA 389273 3 7 7 2 5 6 5 2 2 ENSG00000249162 chr4 187746094 187748199 - ADAM20P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249163 chr14 45083045 45083977 - AL121809.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249166 chr5 10493291 10494094 - AC092336.1 lincRNA 0 1 0 0 1 2 0 1 0 ENSG00000249167 chr5 116574482 116591398 + SEMA6A-AS2 lincRNA 105379132 0 0 0 0 0 0 0 1 0 ENSG00000249169 chr5 92654848 92679141 + AC026780.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249170 chr4 71300258 71301235 - AC096713.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249171 chr4 83668510 83731755 - AC021192.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249173 chr4 184893871 184899454 - LINC01093 lincRNA 100506229 11 9 8 5 6 9 2 4 3 ENSG00000249174 chr5 18965861 19142346 - AC106744.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249175 chr5 94788789 94793599 + AC008534.1 antisense 1 1 2 2 3 6 3 0 1 ENSG00000249176 chr17 49939122 49939819 + AC027801.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249177 chr2 201554384 201556051 + MTND4P29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249180 chr5 96741079 96742698 - AC020900.1 antisense 109 104 129 51 85 65 79 66 77 ENSG00000249183 chr5 69068925 69069200 - SUMO2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249184 chr4 151799500 151801348 + AC107074.1 lincRNA 105377488 0 0 0 0 0 0 0 0 0 ENSG00000249186 chr5 177857945 177871194 - AC140125.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249188 chr8 8154308 8216916 + ENPP7P1 transcribed_unprocessed_pseudogene 1 7 3 0 10 9 2 2 6 ENSG00000249189 chr19 54246101 54247322 - AC245052.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249191 chr5 18886622 18887095 - UBE2V1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249192 chr5 134928393 134928527 - MTND3P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249193 chr4 144845625 144847344 + HSPD1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249196 chr12 129109629 129113294 + TMEM132D-AS1 antisense 283352 0 0 0 0 0 0 0 0 0 ENSG00000249197 chr1 159405423 159406409 - OR10J9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249198 chr5 57751192 57751717 - AC106822.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249199 chr5 17369225 17375577 - AC026785.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249200 chr4 154373886 154374347 + AC110775.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249201 chr5 1173141 1178605 - CTD-3080P12.3 antisense 101928857 0 0 0 0 0 0 0 0 0 ENSG00000249203 chr5 44495618 44510282 - LINC02224 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249206 chr5 22580225 22580819 - GCNT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249207 chr4 39112677 39126818 - AC079921.1 antisense 73 50 70 36 51 50 51 33 66 ENSG00000249209 chr21 33584687 33931607 - AP000311.1 protein_coding 2 2 1 0 0 10 8 2 3 ENSG00000249210 chr19 46558641 46559642 + GAPDHP38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249212 chr4 42029209 42030123 + ATP1B1P1 unprocessed_pseudogene 2 5 2 0 0 0 0 0 8 ENSG00000249213 chr8 26254883 26256628 - AC079097.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249215 chr5 139494256 139496116 + NCOA4P4 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000249216 chr4 41688858 41692797 - AC105389.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249219 chr4 9922814 9924146 + AC108199.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000249222 chr22 42639803 42640601 - ATP5MGL protein_coding 267020 GO:0005739, GO:0000276, mitochondrion, mitochondrial proton-transporting ATP synthase complex, coupling factor F(o), GO:0015078, proton transmembrane transporter activity, GO:0015986, ATP synthesis coupled proton transport, 0 0 1 0 1 4 4 0 0 ENSG00000249225 chr3 98099908 98148134 - AC117460.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249226 chr5 29001760 29003357 + SUCLG2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249228 chr4 29046591 29048765 + AC068944.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249229 chr5 145001853 145005789 - NAMPTP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249230 chr5 69985204 69985501 - CDH12P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249231 chr16 52552090 52652105 - CASC16 lincRNA 643714 0 0 0 0 0 0 0 0 0 ENSG00000249234 chr4 16178939 16183120 + AC108063.1 antisense 3 1 3 8 7 8 7 7 1 ENSG00000249235 chr4 68861332 68861610 - AC021146.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249236 chr5 55978248 56111329 + AC008892.1 lincRNA 0 0 7 4 3 3 2 2 3 ENSG00000249237 chr1 84344678 84349939 + AL359273.1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249238 chr5 67636382 67638942 + BCL9P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249239 chr4 92821986 92822918 - AC095059.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249240 chr15 64841883 64930920 + AC069368.1 protein_coding 0 2 1 2 3 1 0 0 1 ENSG00000249241 chr4 40316485 40330419 + LINC02265 lincRNA 101060498 1 0 0 0 0 1 0 0 0 ENSG00000249242 chr4 82483170 82562357 - TMEM150C protein_coding This gene encodes a transmembrane protein component of a mechanosensitve ion channel that is activated by mechanical stimuli in various cell types and confers slowly adapting, mechanically activated currents in dorsal root ganglion neurons. Mechanically activated ion channels are sensors that are critical for hearing, touch, pain, and blood pressure regulation. [provided by RefSeq, Jul 2017]. 441027 GO:0005887, GO:0005765, GO:0005764, integral component of plasma membrane, lysosomal membrane, lysosome, GO:0008381, mechanosensitive ion channel activity, GO:0071260, GO:0034220, GO:0019230, GO:0010506, cellular response to mechanical stimulus, ion transmembrane transport, proprioception, regulation of autophagy, 0 0 0 0 0 0 0 0 2 ENSG00000249244 chr4 119391831 119395335 - AC110373.1 unprocessed_pseudogene 0 0 0 0 0 1 0 0 5 ENSG00000249245 chr4 145624159 145626035 - NCOA4P3 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000249247 chr4 155451617 155452405 - MTCYBP17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249249 chr5 115602057 115620659 + AC010226.1 antisense 63 85 94 42 58 28 33 51 19 ENSG00000249252 chr4 15004942 15427914 - AC098829.1 antisense 101929095 116 143 164 89 235 154 133 156 133 ENSG00000249253 chr3 130293337 130293760 + AC093004.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249255 chr11 92366496 92367250 - PGAM1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249256 chr4 24658072 24658375 - ATP5MGP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249257 chr4 108773613 108774020 + AC097473.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249258 chr8 17131181 17149789 + AC079193.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000249259 chr4 115922015 116297160 - AC027613.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249261 chr5 124868972 124869914 - AC109464.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249262 chr4 87410644 87411388 + AC112250.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249263 chr22 16653892 16659628 - PARP4P3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249264 chr4 105484698 105486080 + EEF1A1P9 processed_pseudogene 1 0 0 2 2 2 2 3 2 ENSG00000249265 chr5 89944910 89947573 + AC113167.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249266 chr5 41967139 41968366 - MTHFD2P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249267 chr12 125958688 125983374 - LINC00939 lincRNA 400084 0 0 0 0 0 0 0 0 0 ENSG00000249269 chr4 188757679 188778979 + AC093909.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249270 chr5 51930808 51932036 + KATNBL1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249271 chr15 65816302 65817481 - HNRNPA1P44 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000249272 chr4 8959628 8963981 + UNC93B8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249274 chr3 98782188 98783193 + PDLIM1P4 processed_pseudogene 34 31 58 4 23 5 5 11 7 ENSG00000249275 chr4 157637687 157667044 + AC093817.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000249276 chr5 43874367 43886628 + AC104119.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249277 chr4 25686202 25686458 - AC092436.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249278 chr4 76509284 76509719 - AC112249.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249279 chr5 61201309 61264929 - LINC02057 lincRNA 105378992 0 0 0 0 0 0 0 0 0 ENSG00000249282 chr5 17601882 17602134 - AC233724.6 processed_pseudogene 0 0 0 0 1 1 0 0 0 ENSG00000249283 chr4 102961956 102963327 + ACTR3BP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249284 chr4 175286605 175290767 + AC095050.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249285 chr5 18908866 18909543 + AC114981.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249286 chr5 43586918 43588223 - AMD1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249287 chr5 180967189 180970762 - AC091874.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249288 chr22 16645695 16646581 - SLC25A15P5 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000249289 chr5 23329427 23329892 - AC010460.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249290 chr3 140449435 140460351 - AC010181.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249293 chr5 73778039 73786491 - AC091868.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249295 chr5 69477472 69502466 - AC145146.1 antisense 101928924 0 0 0 0 0 0 0 0 0 ENSG00000249297 chr4 171602683 171638763 - LINC02174 lincRNA 105377536 0 0 0 0 0 0 0 0 0 ENSG00000249301 chr5 75910283 75910576 - AC108120.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249302 chr4 139546266 139546727 + FTH1P24 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000249304 chr4 113943256 113944320 + AC104779.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249305 chr3 140619694 140619837 - AC048346.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249306 chr5 174336295 174532457 + LINC01411 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249307 chr4 78971748 79308798 + LINC01088 antisense 1 0 0 0 0 0 0 0 0 ENSG00000249309 chr4 153720327 153727722 + AC020703.1 antisense 10 9 26 17 20 27 8 16 22 ENSG00000249310 chr22 38991559 38998209 - APOBEC3B-AS1 antisense 100874530 255 192 121 227 206 98 244 142 72 ENSG00000249311 chr4 136355110 136356336 - TERF1P3 processed_pseudogene 0 0 0 0 0 2 1 0 0 ENSG00000249312 chr5 130529419 130529889 + ARL2BPP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249316 chr8 11281364 11282501 - AF131216.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249317 chr4 148940941 148942378 - AC002460.1 processed_transcript 105377480 0 0 0 0 0 0 0 0 0 ENSG00000249318 chr5 111265809 111270089 - AC010468.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000249319 chr7 66087761 66152277 + AC068533.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000249320 chr4 25472517 25473815 + AC133963.2 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000249321 chr3 98197211 98198138 + OR5H5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249326 chr5 1887332 1900493 + CTD-2194D22.4 antisense 101929081 0 0 0 0 0 0 0 0 0 ENSG00000249328 chr8 79769372 79871759 - AC036214.1 lincRNA 101927040 0 0 0 0 0 0 0 0 0 ENSG00000249330 chr4 46390255 46433188 + AC095060.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249332 chr5 15112377 15117007 - AC016651.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249333 chr22 22038643 22039126 + AC245452.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249334 chr4 10685003 10697661 + AC084048.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249335 chr5 68832585 68962158 - AC093523.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249337 chr4 49588772 49589529 + SNX18P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249338 chr5 51409617 51410205 - HMGB1P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249341 chr4 53659208 53737156 + AC124017.1 sense_intronic 100506444 0 0 0 0 0 0 0 0 0 ENSG00000249343 chr5 74322486 74328297 + LINC01333 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249345 chr12 126915203 127060401 - LINC02405 lincRNA 101927592 0 0 0 0 0 0 0 0 0 ENSG00000249346 chr6 33867506 33896914 - LINC01016 lincRNA 100507584 0 0 0 0 0 0 0 0 6 ENSG00000249347 chr4 8990455 8990806 + AC073648.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249348 chr4 39528019 39594707 + UGDH-AS1 antisense 100885776 1 1 3 3 0 3 1 0 6 ENSG00000249349 chr5 85112342 85112756 - AC114928.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249351 chr4 65216616 65217433 + AC096754.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249352 chr5 68970692 69030165 - LINC02198 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249353 chr5 93682838 93683667 - NPM1P27 processed_pseudogene 20 7 38 36 17 35 45 16 26 ENSG00000249359 chr5 21323873 21341375 - AC093274.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249360 chr5 33502072 33503135 + AC034232.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249362 chr5 87662042 87679147 + LINC02488 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249363 chr5 145728360 145729349 - AC011411.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249364 chr5 67379378 67805238 + AC112206.2 lincRNA 101928858 0 0 1 1 0 0 0 0 0 ENSG00000249367 chr4 159026139 159026527 + FABP5P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249368 chr8 15325296 15325569 + AC103851.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249372 chr5 78222184 78222517 + ATP6V1G1P6 processed_pseudogene 1 0 0 0 0 0 0 0 3 ENSG00000249373 chr4 113031287 113034551 - AC093879.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249375 chr8 127686343 127733967 - CASC11 lincRNA 100270680 0 0 0 0 0 0 0 0 0 ENSG00000249378 chr4 188400736 188681051 + LINC01060 lincRNA 401164 0 0 0 0 0 0 0 0 0 ENSG00000249379 chr6 53503185 53506919 + AL033397.2 antisense 2 0 2 7 5 0 6 0 5 ENSG00000249380 chr5 34373028 34373850 + AC138853.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249381 chr4 138425523 138436869 + LINC00500 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249382 chr4 58987182 58988160 - AC097501.1 processed_transcript 105377245 0 0 0 0 0 0 0 0 0 ENSG00000249383 chr17 51312609 51335165 - LINC02071 lincRNA 101927274 0 0 0 0 0 0 0 0 0 ENSG00000249386 chr4 155458870 155459563 - MTCO2P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249387 chr11 71579728 71579848 - KRTAP5-14P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249388 chr12 54082118 54102693 + AC023794.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249392 chr4 59551142 59630324 - AC096588.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249395 chr8 75223404 75324741 - CASC9 lincRNA 101805492 0 0 0 0 0 0 0 0 0 ENSG00000249396 chr5 10493527 10502728 - LINC02212 lincRNA 101929412 15 10 20 14 18 6 20 7 30 ENSG00000249400 chr5 123468781 123469429 - HMGB3P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249403 chr5 174986295 174987050 + AC008413.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249404 chr5 23013048 23014527 + AC010445.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249405 chr5 50858760 50860020 - AC022441.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249406 chr17 50208944 50215922 + AC015909.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249407 chr3 136959125 136982196 - IL20RB-AS1 antisense 1 0 0 0 1 0 1 3 0 ENSG00000249409 chr4 120639090 120650796 + AC025741.1 lincRNA 1 3 5 1 0 1 2 1 3 ENSG00000249410 chr5 55551885 55552554 - AK4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249411 chr4 175017016 175019214 + AC022325.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249412 chr5 179963615 179964419 + AC010285.1 antisense 13 10 17 8 15 25 12 6 8 ENSG00000249413 chr4 65998846 66150012 + AC116049.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249416 chr4 131768233 131768578 + AC107393.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249417 chr3 141267353 141367137 - AC117383.1 antisense 0 1 2 0 0 0 0 3 2 ENSG00000249418 chr5 130598348 130598779 + AC005741.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249419 chr4 162022733 162047567 + AC023136.1 antisense 101928052 0 0 0 0 0 0 0 0 0 ENSG00000249421 chr5 129459559 129460689 - ADAMTS19-AS1 antisense 103689846 0 0 0 0 0 0 0 0 0 ENSG00000249425 chr4 160539254 160586817 + LINC02477 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249426 chr5 118760474 118785459 - AC093206.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249429 chr5 143489855 143531350 - AC016598.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249433 chr5 115493557 115493821 + AC008628.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000249435 chr19 53426019 53426499 - AC022137.2 processed_pseudogene 1 2 0 3 4 0 0 1 0 ENSG00000249436 chr5 57614389 57617431 + AC008780.2 lincRNA 100996645 0 0 0 0 0 0 0 0 0 ENSG00000249437 chr5 70968483 71025114 - NAIP protein_coding This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 4671 GO:0072557, GO:0016323, GO:0005737, IPAF inflammasome complex, basolateral plasma membrane, cytoplasm, GO:0046872, GO:0043027, GO:0005524, GO:0005524, GO:0005515, metal ion binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, ATP binding, ATP binding, protein binding, GO:0070269, GO:0045087, GO:0043524, GO:0043154, GO:0043154, GO:0043066, GO:0042742, GO:0016045, GO:0007399, GO:0006954, GO:0006915, pyroptosis, innate immune response, negative regulation of neuron apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of apoptotic process, defense response to bacterium, detection of bacterium, nervous system development, inflammatory response, apoptotic process, 2 45 69 3 59 73 2 27 46 ENSG00000249438 chr5 80288449 80289781 + KRT18P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249439 chr5 111846050 111846566 - HMGN1P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249441 chr4 19747179 19754591 - AC110767.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249443 chr4 9521910 9522276 + AC097493.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249444 chr5 99489559 99499367 + AC114324.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249446 chr14 22476306 22476362 + TRAJ60 TR_J_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000249448 chr5 98410235 98411792 - MTCO1P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249449 chr5 163039291 163039599 + MRPL57P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249451 chr17 50503412 50508328 - AC021491.1 lincRNA 0 0 0 0 0 0 4 0 0 ENSG00000249452 chr4 33238239 33238670 - AC093878.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249453 chr4 23779590 23782560 + AC092834.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249454 chr5 55073015 55096553 + GZMAP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000249456 chr10 124917143 124942881 + AL731577.2 sense_overlapping 16 13 24 9 20 11 9 3 21 ENSG00000249458 chr4 176866614 176875457 - AC092673.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249459 chr17 18658429 18682262 - ZNF286B protein_coding 729288 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 2 2 11 3 7 2 1 4 ENSG00000249460 chr4 181261161 181265029 - LINC02500 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249462 chr4 189973599 189973847 - MLLT10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249463 chr4 132027175 132028434 - AC096711.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249464 chr4 123650267 123930406 + LINC01091 lincRNA 285419 0 0 0 0 0 0 0 0 0 ENSG00000249465 chr4 109346326 109347459 - RBMXP4 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000249467 chrX 36719918 36720221 + AL592156.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249471 chr19 58451604 58457833 + ZNF324B protein_coding 388569 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 7 5 10 11 4 10 5 5 4 ENSG00000249472 chr4 68614419 68615013 + AC147055.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249474 chr3 101823793 101824998 - AC020651.1 antisense 6 1 10 1 5 3 19 8 5 ENSG00000249476 chr5 109237120 109326369 - AC008467.1 lincRNA 285638 25 41 57 33 94 105 45 45 70 ENSG00000249478 chr5 133243764 133248781 + AC010307.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249479 chr4 156642580 156643569 + AC096736.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249481 chr6 44342660 44377167 + SPATS1 protein_coding 221409 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000249482 chr4 9229641 9231233 + USP17L14P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249483 chr5 81851601 81852201 + AC026726.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000249484 chr5 152618965 153223543 - LINC01470 lincRNA 101927134 0 0 0 0 0 0 0 0 0 ENSG00000249485 chr5 14797125 14798400 - RBBP4P1 processed_pseudogene 4 11 9 5 0 3 7 5 8 ENSG00000249486 chr5 8157541 8157788 - AC091912.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249487 chr15 88585566 88605110 - LINC01586 lincRNA 101929743 0 0 0 0 0 0 0 0 0 ENSG00000249488 chr4 17552117 17552752 - NACAP5 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000249489 chr11 88408179 88409223 - GAPDHP70 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000249490 chr5 20612625 20614765 - LINC02146 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249491 chr5 38425036 38427376 - EGFLAM-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249492 chr5 43483959 43509356 + AC114956.3 processed_transcript 1 0 2 13 2 5 4 2 1 ENSG00000249493 chr21 14064325 14069087 + ANKRD20A18P unprocessed_pseudogene 0 1 0 0 2 0 0 0 0 ENSG00000249494 chr5 119006347 119070890 - AC008629.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249495 chr5 101976296 101976798 + AC117525.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249497 chr17 49457861 49461749 - LINC02075 lincRNA 101927207 0 0 0 0 0 0 0 0 0 ENSG00000249500 chr4 165684639 165762778 + LINC01179 lincRNA 101928151 0 0 0 0 0 0 0 0 0 ENSG00000249501 chrY 18776279 18779427 - USP9YP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249502 chr4 17587467 17614571 - AC006160.1 antisense 2 5 0 26 20 55 16 16 12 ENSG00000249503 chr5 148221360 148221642 - HMGN1P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249504 chr5 140861224 140863521 + PCDHA14 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249505 chr3 129045763 129046921 + AC108673.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249506 chr4 16360686 16397323 - ZEB2P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249509 chr4 112515385 112546881 + AC023886.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249510 chr8 94201913 94203052 - AP003478.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249513 chr4 132985510 132988677 - AC110751.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249514 chr5 91030990 91031307 - TMEM251P1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000249515 chr5 99549432 99577957 + LINC02113 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249516 chr5 42917414 42917984 + PRELID3BP6 processed_pseudogene 0 0 0 0 0 0 0 1 1 ENSG00000249518 chr5 147851644 147852659 - AC011352.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249519 chr4 110794403 110797344 + LINC01438 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249520 chr4 185064981 185065323 + AC093824.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249521 chr5 4773481 4774865 + LINC02114 lincRNA 101929153 0 0 0 0 0 0 0 0 0 ENSG00000249522 chr4 3910283 3910604 + AC147876.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249525 chr4 171113789 171114581 + AC034159.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249526 chr5 139684645 139745010 + AC008667.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249531 chr4 68300325 68302459 + AC098799.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249532 chr4 112646476 112650051 - AC106864.1 antisense 109864269 227 152 240 149 132 146 123 104 129 ENSG00000249534 chr4 38420662 38523180 - LINC01258 lincRNA 101928776 0 0 0 0 1 0 0 0 0 ENSG00000249539 chr4 186900540 186900838 + MRPS36P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249540 chr3 141307612 141307933 - AC117383.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249541 chr5 2787451 2788549 - AC116359.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249542 chr4 29748757 29750100 + EEF1A1P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249545 chr5 94979151 94980893 + AC012312.1 antisense 0 0 0 2 0 1 0 0 0 ENSG00000249547 chr4 23234625 23285573 - AC092440.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249550 chr12 113679459 113773683 - LINC01234 lincRNA 100506465 0 0 0 0 0 1 0 0 0 ENSG00000249551 chr5 118575575 118581324 + LINC02216 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249553 chr5 146914207 146919506 - PPP2R2B-IT1 sense_intronic 100874361 0 0 0 0 0 0 0 0 0 ENSG00000249555 chr4 125723267 125724217 - TMEM248P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249557 chr5 19233366 19234487 + HSPD1P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249558 chr3 126766434 126767475 - RCC2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249562 chr5 24578294 24578561 - AC091885.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249563 chr4 9733370 9742361 + AC098976.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249564 chr4 29907659 29907791 - AC097510.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249565 chr4 78180866 78182046 - SERBP1P5 processed_pseudogene 6 8 5 9 4 8 11 10 3 ENSG00000249568 chr4 161378953 161388417 + AC104793.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249572 chr5 33424025 33440619 - AC034231.1 antisense 1 0 0 3 1 0 2 0 0 ENSG00000249574 chr7 379359 382712 + AC226118.1 lincRNA 442497 0 0 0 0 0 0 0 2 0 ENSG00000249577 chr5 127465822 127466118 + AC010424.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249579 chr5 63022919 63023489 - AC113420.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249580 chr3 106897671 106898268 - MTATP6P22 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249581 chr4 17515165 17527104 + CLRN2 protein_coding This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]. 645104 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000249582 chr5 117778826 117779532 - RPL7L1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249584 chr5 57890327 57899162 - LINC02225 lincRNA 101928539 0 0 0 0 0 0 0 0 0 ENSG00000249588 chr5 68523878 68530007 + AC010280.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249590 chr22 30409255 30428990 + AC004832.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000249592 chr4 762387 781849 - AC139887.2 antisense 100129917 117 113 112 139 182 149 189 138 127 ENSG00000249593 chr5 139012647 139051203 + AC011405.1 antisense 6 6 13 3 4 4 12 2 4 ENSG00000249599 chr4 94743800 94757533 - BMPR1B-DT lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249600 chr5 121671373 121671872 - AC106806.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249601 chr5 170191579 170199141 - LINC01187 lincRNA 2 4 0 13 8 12 4 10 7 ENSG00000249602 chr1 151763384 151769501 - AL589765.4 antisense 2 0 0 5 0 0 1 0 0 ENSG00000249604 chr4 107936031 107941255 - AC096564.2 antisense 0 1 1 3 1 0 3 0 0 ENSG00000249605 chr5 144369334 144385310 + AC008652.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000249606 chrY 18655520 18656190 - TRAPPC2P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249607 chr5 23688927 23689386 + AC108103.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249609 chr4 168828919 168832937 - AC080188.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249610 chr5 122154496 122156015 - AC010255.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249613 chr4 106433624 106453448 + LINC02173 lincRNA 105377355 0 0 0 0 0 0 0 0 0 ENSG00000249614 chr4 103961616 104036923 + LINC02503 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249616 chr5 26739753 26741183 - CCNB3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249617 chr4 165045969 165046280 + AC106872.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249618 chr4 129771659 129955368 + LINC02465 lincRNA 107986313 0 0 0 0 0 0 0 0 0 ENSG00000249619 chr5 111572102 111572239 - HMGN1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249620 chr5 17511833 17512238 - AC106774.2 processed_pseudogene 0 2 3 2 2 0 0 2 0 ENSG00000249621 chr5 122321291 122323358 - AC113349.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249623 chr4 168647896 168648587 - AC079858.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249624 chr21 33229901 33297160 + AP000295.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000249626 chr3 197634315 197635811 + AC024560.2 processed_pseudogene 2 0 1 0 0 3 7 0 2 ENSG00000249627 chr4 157815010 157815480 + AC017037.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249628 chr12 1500525 1504424 + LINC00942 lincRNA 100292680 0 0 0 0 0 0 0 2 0 ENSG00000249631 chr4 11625714 11813958 + AC005699.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249633 chr11 5527277 5528174 - OR52V1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000249634 chrY 18490915 18494295 - USP9YP5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249635 chr4 106003317 106022478 - AC109361.1 antisense 101929577 0 0 0 4 0 0 0 0 0 ENSG00000249637 chr5 140370891 140401367 - AC008438.1 antisense 0 1 3 1 5 7 7 6 6 ENSG00000249638 chr5 7362979 7364531 - AC027343.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249639 chr5 135450613 135458697 + AC022092.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249641 chr12 53935328 53939643 - HOXC13-AS antisense 100874366 0 0 0 0 0 0 0 0 0 ENSG00000249642 chr4 187613765 187660369 + AC097521.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249645 chr4 23105502 23123487 + AC114912.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249646 chr4 79587302 79588130 - OR7E94P transcribed_unprocessed_pseudogene 1 0 0 4 1 0 0 0 0 ENSG00000249647 chr5 135236234 135248179 - C5orf66-AS2 lincRNA 340073 0 0 0 0 0 1 0 0 0 ENSG00000249649 chr4 38006784 38007105 - MRPS33P2 processed_pseudogene 2 0 0 0 1 1 1 0 3 ENSG00000249650 chr5 602620 612210 - AC106772.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249654 chr19 54320204 54321212 - VN1R104P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249655 chr5 80630313 80631590 - AC008434.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249658 chr17 51335261 51336240 + AC005823.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249661 chr4 140641840 140645489 - TNRC18P1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000249662 chr5 17444010 17486829 + LINC02218 protein_coding 102723526 177 173 276 72 124 118 89 102 109 ENSG00000249664 chr5 83012285 83013109 - AC027338.1 lincRNA 0 0 0 0 0 0 0 2 0 ENSG00000249667 chr4 38509767 38518056 + LINC01259 lincRNA 106144599 4 3 3 10 2 5 1 0 0 ENSG00000249668 chr5 40066651 40067200 + KRT18P56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249669 chr5 149406689 149432835 + CARMN lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249673 chr4 2934899 2961738 + NOP14-AS1 antisense 88 67 88 98 83 96 44 58 94 ENSG00000249675 chr4 166388701 166526119 - AC097487.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249678 chr4 30776257 30793970 - AC097716.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249679 chr4 185471516 185472263 + AC106897.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000249680 chr22 21065462 21070097 + TUBA3GP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249681 chr4 109879070 109879897 - KRT19P3 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000249684 chr5 177950335 177963960 + AC106795.2 antisense 0 0 0 0 4 0 0 0 1 ENSG00000249685 chr4 39133913 39135608 + AC079921.2 lincRNA 8 11 3 2 18 13 10 10 10 ENSG00000249686 chr4 69450014 69451613 + AC108078.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249688 chr5 31754219 31754656 + AC022447.6 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000249689 chr5 139492538 139493105 + AC138517.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249690 chr4 150579089 150581545 + AC110813.1 antisense 0 0 0 1 2 0 0 0 0 ENSG00000249691 chr3 134510531 134511413 - AC026117.1 processed_pseudogene 3 1 1 0 0 2 0 4 1 ENSG00000249692 chr4 154770568 154770916 + AC009567.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249693 chr4 56530609 56603507 + THEGL protein_coding 100506564 0 0 0 0 0 0 0 0 0 ENSG00000249695 chr12 137411 149169 - AC026369.1 antisense 574538 0 0 0 0 0 0 0 0 0 ENSG00000249697 chr5 56313905 56321397 - AC034245.1 lincRNA 0 0 0 0 2 1 0 0 0 ENSG00000249698 chr4 155457180 155457960 - MTCO3P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249699 chr4 27217479 27282225 + LINC02261 lincRNA 101929199 0 0 0 0 0 0 0 0 0 ENSG00000249700 chr4 55363971 55395847 - SRD5A3-AS1 processed_transcript 100506462 18 6 26 12 15 58 35 17 38 ENSG00000249706 chr4 53899871 53916835 + AC105384.1 sense_intronic 2 0 0 0 8 2 5 1 3 ENSG00000249708 chr4 151887543 151891263 - AC112242.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249709 chr19 12525370 12551542 - ZNF564 protein_coding 163050 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 3 11 6 5 13 8 5 8 8 ENSG00000249710 chr4 100190033 100215505 + AP001961.1 antisense 101929353 0 0 0 0 0 0 0 0 0 ENSG00000249713 chr5 76606608 76608970 - AC026725.1 antisense 101929109 1 0 0 0 1 0 0 0 0 ENSG00000249715 chr2 96642737 96704887 + FER1L5 protein_coding 90342 GO:0031410, GO:0030315, GO:0016021, cytoplasmic vesicle, T-tubule, integral component of membrane, GO:0005544, GO:0005509, calcium-dependent phospholipid binding, calcium ion binding, GO:0061025, GO:0050765, GO:0033292, GO:0007520, GO:0007009, GO:0006906, GO:0002281, GO:0002280, GO:0001778, membrane fusion, negative regulation of phagocytosis, T-tubule organization, myoblast fusion, plasma membrane organization, vesicle fusion, macrophage activation involved in immune response, monocyte activation involved in immune response, plasma membrane repair, 2 0 1 0 0 2 0 1 1 ENSG00000249717 chr4 74955974 74970362 - AC110760.2 antisense 100507388 0 0 0 0 0 0 0 0 0 ENSG00000249721 chr5 67692812 67693200 - AC112206.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249722 chr5 174329612 174330503 + AC025752.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249725 chr3 133015004 133037052 - AC079942.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249726 chrY 18386974 18389151 + TUBB1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249727 chr4 54836161 54845402 - AC097494.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249729 chr4 44840380 44841402 - AC093755.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249730 chr1 159432204 159433138 + OR10J4 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 391121 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000249731 chr5 1968094 1969013 + AC126768.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249735 chr4 68985009 68988533 - AC021146.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249736 chr5 67632266 67646789 - LINC02242 lincRNA 105379006 0 0 0 0 0 0 0 0 0 ENSG00000249737 chr5 16428536 16432436 + AC020980.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249738 chr5 159310745 159805536 + AC008691.1 antisense 285626 4 1 6 3 3 0 2 5 4 ENSG00000249740 chr5 38710367 38845829 - OSMR-AS1 lincRNA 101926904 0 0 0 0 0 0 0 0 0 ENSG00000249741 chr4 143911514 143912053 - AC093890.1 processed_pseudogene 0 1 3 0 1 0 0 1 2 ENSG00000249742 chr4 186979490 187021973 - AC110772.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249743 chr5 73213947 73294934 + AC116345.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249744 chr5 29848684 29849218 - AC010374.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249745 chr4 41842154 41843950 - HMGB1P28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249746 chr5 96213346 96215075 - AC099509.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000249747 chr4 187201986 187209346 + LINC02374 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249748 chr5 35938822 35939993 + AC112204.2 antisense 100506406 0 0 0 0 0 0 0 0 0 ENSG00000249751 chr5 139448556 139462743 - ECSCR protein_coding The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 641700 GO:0043231, GO:0016021, GO:0005886, GO:0005886, GO:0005829, GO:0005829, GO:0005654, intracellular membrane-bounded organelle, integral component of membrane, plasma membrane, plasma membrane, cytosol, cytosol, nucleoplasm, GO:0005515, protein binding, GO:2000353, GO:2000353, GO:1901800, GO:1901800, GO:0030154, GO:0016525, GO:0016525, GO:0006935, GO:0006915, GO:0001525, positive regulation of endothelial cell apoptotic process, positive regulation of endothelial cell apoptotic process, positive regulation of proteasomal protein catabolic process, positive regulation of proteasomal protein catabolic process, cell differentiation, negative regulation of angiogenesis, negative regulation of angiogenesis, chemotaxis, apoptotic process, angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000249752 chr4 149027445 149062522 - AC108156.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249753 chr12 63623788 63795718 - AC084357.2 antisense 0 0 0 0 0 2 0 0 0 ENSG00000249754 chr4 140314163 140314550 - NDUFB4P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249755 chr4 88527160 88528170 + AC083829.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000249761 chr5 97336858 97337040 - AC074133.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249763 chr4 69242628 69250815 + AC114786.1 processed_pseudogene 7 5 12 0 0 0 0 0 0 ENSG00000249764 chr4 98713804 98713971 - AC114811.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249766 chr4 33400538 33400679 + AC097535.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249767 chr4 9079023 9141608 + ENPP7P10 unprocessed_pseudogene 4 1 4 0 1 0 0 0 4 ENSG00000249768 chr5 126737438 126737995 - HSPE1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249770 chr4 155452526 155453044 + MTND6P17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249771 chr4 41883060 41894579 - AC108210.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249772 chr5 81113385 81114852 - AC026427.1 antisense 1 1 2 2 1 2 4 1 5 ENSG00000249773 chr7 55887277 55955239 + AC092647.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000249774 chr5 31923367 31923532 + AC025458.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000249776 chr5 92410256 92660863 - AC124854.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249777 chr5 76075531 76075920 + SAP18P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249778 chr5 80033171 80033302 - TRMT112P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249779 chr5 43206709 43207811 + AC106800.2 processed_pseudogene 0 0 0 0 2 0 1 0 0 ENSG00000249780 chr4 12640298 12640637 - AC093809.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249781 chr5 9641305 9903826 - LINC02112 lincRNA 285692 0 0 0 0 0 0 0 0 0 ENSG00000249782 chr5 8525179 8528679 + AC027328.1 lincRNA 105374647 0 0 0 0 0 0 0 0 0 ENSG00000249784 chr4 1974636 1974760 + SCARNA22 scaRNA 677770 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000249785 chr5 28286389 28287665 - LINC02103 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249786 chr3 15436171 15455940 - EAF1-AS1 antisense 149 194 248 105 81 122 81 93 135 ENSG00000249787 chr5 100401441 100408899 + AC113385.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249790 chr12 8788257 8795789 + AC092490.1 lincRNA 1 0 9 6 3 8 0 0 6 ENSG00000249791 chr5 115188563 115188932 + AC008494.2 antisense 1 0 0 4 0 0 0 1 0 ENSG00000249792 chr5 85212958 85213614 - AC117522.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249795 chr4 127498327 127498807 + AC097462.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249797 chr5 117925008 118266035 + LINC02147 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249798 chr1 119538509 119545913 + HSD3BP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249799 chr4 9583942 9584131 - SNRPCP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249803 chr5 136466677 136520298 + AC112178.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249806 chr4 142566019 142660950 + AC139720.1 lincRNA 2 1 2 8 0 2 1 0 7 ENSG00000249807 chr5 10137138 10138365 + AC034229.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249808 chr5 3177835 3181232 + LINC01377 lincRNA 102467074 0 0 0 0 0 0 0 1 0 ENSG00000249811 chr4 9262872 9264823 + USP17L21 protein_coding 100287478 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000249815 chr4 111826881 112072698 - AC004704.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249816 chr8 124848737 124954328 + LINC00964 lincRNA 157381 0 0 0 0 0 0 0 0 0 ENSG00000249818 chr4 151904932 151928648 - AC097375.2 lincRNA 102724700 0 0 0 0 0 0 0 0 0 ENSG00000249819 chr4 157204462 157204855 - AC112240.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249820 chr3 133409955 133410843 + AC055753.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249825 chr5 80052374 80083654 - CTD-2201I18.1 antisense 101929215 16 9 13 25 16 15 22 12 17 ENSG00000249828 chr4 49203171 49203726 - AC118282.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249829 chr5 79191549 79191747 + AC016559.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249830 chr5 3452816 3461660 + LINC02162 lincRNA 105374624 0 0 0 0 0 0 0 0 0 ENSG00000249831 chr4 57720035 57724655 + AC093725.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249833 chr3 126393032 126394851 - CCDC37-DT antisense 100506907 0 0 0 0 0 0 0 0 0 ENSG00000249834 chr5 148307298 148308258 + PGBD4P3 processed_pseudogene 1 0 0 0 0 2 1 0 1 ENSG00000249835 chr5 83531352 83581320 - VCAN-AS1 antisense 105379054 5 17 46 12 18 31 4 6 24 ENSG00000249837 chr4 124149377 124252044 - AC121154.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249838 chr17 50235845 50236129 + SUMO2P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249839 chr15 43663654 43684339 - AC011330.1 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000249840 chr19 11585246 11587135 + GAPDHP76 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249842 chr5 85446974 85447758 + AC010486.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249843 chr5 54878238 54878588 + AC112198.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249844 chr4 4174319 4175238 - OR7E43P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249846 chr3 130112550 130120579 + LINC02021 lincRNA 105374104 2 2 3 0 0 0 4 2 0 ENSG00000249847 chr4 134932889 134934131 - AC104619.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249848 chr8 10336782 10337677 - AC112673.1 processed_pseudogene 1 1 0 0 1 0 1 1 0 ENSG00000249849 chr5 177682294 177713969 + AC138819.1 antisense 3 1 4 8 0 3 7 2 4 ENSG00000249850 chr5 36885206 36886497 + KRT18P31 processed_pseudogene 10 7 12 7 6 4 1 10 0 ENSG00000249851 chr5 138266996 138267757 - RPS27AP18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249852 chr7 227554 229557 - AC145676.1 TEC 0 0 2 0 2 0 0 0 0 ENSG00000249853 chr6 114055586 114343045 - HS3ST5 protein_coding HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008]. 222537 GO:0016021, GO:0000139, integral component of membrane, Golgi membrane, GO:0050656, GO:0008467, GO:0008467, GO:0005515, 3'-phosphoadenosine 5'-phosphosulfate binding, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity, protein binding, GO:0050819, GO:0046596, GO:0015015, GO:0006477, GO:0006024, negative regulation of coagulation, regulation of viral entry into host cell, heparan sulfate proteoglycan biosynthetic process, enzymatic modification, protein sulfation, glycosaminoglycan biosynthetic process, 0 0 1 0 0 0 1 0 0 ENSG00000249854 chr5 20305565 20331456 + CDH18-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249855 chr5 43495073 43496454 - EEF1A1P19 processed_pseudogene 1 0 3 7 3 3 0 0 8 ENSG00000249856 chr5 74917726 75023928 - AC116337.3 lincRNA 0 0 1 0 0 0 0 0 9 ENSG00000249857 chr5 82940458 82940983 - AC027338.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249858 chr4 76344550 76345590 + SNX5P1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000249859 chr8 127794533 128101253 + PVT1 lincRNA 9 9 11 44 9 12 28 4 13 ENSG00000249860 chr10 55599303 55600041 + MTRNR2L5 protein_coding 100463289 GO:0005739, GO:0005576, GO:0005575, mitochondrion, extracellular region, cellular_component, GO:0048019, GO:0003674, receptor antagonist activity, molecular_function, GO:2000272, GO:1902109, GO:1900118, GO:1900118, GO:0072734, negative regulation of signaling receptor activity, negative regulation of mitochondrial membrane permeability involved in apoptotic process, negative regulation of execution phase of apoptosis, negative regulation of execution phase of apoptosis, cellular response to staurosporine, 0 0 0 0 0 0 0 0 0 ENSG00000249861 chr19 39655894 39660647 + LGALS16 protein_coding 148003 GO:0005575, cellular_component, GO:0030395, lactose binding, GO:0070234, GO:0006915, positive regulation of T cell apoptotic process, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000249863 chr4 37868292 37869978 + AC021106.1 processed_pseudogene 27 46 21 11 32 27 17 21 12 ENSG00000249865 chr5 7367929 7373074 - AC027343.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249866 chr4 9512905 9513874 + OR7E83P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249867 chr11 28702615 29063821 + AC090833.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249868 chr8 311133 331026 - AC136777.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249869 chr3 130013182 130013541 - AC083906.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249870 chr17 51042524 51085471 + AC005920.2 antisense 3 11 13 61 48 111 84 25 46 ENSG00000249873 chr12 126869490 126874690 - LINC02372 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000249875 chr4 174354854 174376445 - AC116616.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249876 chr5 179939457 179940132 - AC010285.2 processed_pseudogene 0 0 0 1 0 0 0 1 0 ENSG00000249877 chr4 189288677 189291336 - AC105924.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249878 chr5 61831947 61833024 - AC026434.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249881 chr5 143605628 143828772 + AC008696.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000249882 chr4 31506666 31558821 + LINC02501 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249883 chr4 180731164 180759038 - AC104803.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249884 chr2 86505668 86721122 - RNF103-CHMP3 protein_coding This locus represents naturally occurring read-through transcription between the neighboring RNF103 (ring finger protein 103) and CHMP3 (charged multivesicular body protein 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011]. 100526767 17 19 25 26 43 74 42 42 44 ENSG00000249885 chr4 105561591 105570238 + ARHGEF38-IT1 sense_intronic 100874374 0 0 0 0 0 0 0 0 0 ENSG00000249887 chr4 41924180 41924380 + AC108210.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000249888 chr5 43225506 43225813 - AC106800.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249889 chr8 12178697 12182719 + ALG1L11P unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000249890 chr4 69021656 69022340 - AC107401.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249891 chr4 91885046 91885254 - KRT19P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249892 chr4 59767816 59792114 - AC093857.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249893 chr4 64608905 64609424 + MTND6P16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249894 chr5 67800740 67890096 - AC024581.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000249896 chr4 6200733 6239937 + LINC02495 transcribed_unprocessed_pseudogene 0 0 3 2 0 7 2 0 7 ENSG00000249898 chr8 6618475 6708209 - MCPH1-AS1 antisense 4 1 3 3 15 4 12 4 3 ENSG00000249899 chr5 52932419 52990278 - AC025180.1 antisense 1 0 0 0 0 0 0 1 0 ENSG00000249901 chr4 158490766 158509908 - AC121161.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249904 chr5 125886285 125886753 - AC010587.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249906 chr17 49505657 49574064 - AC006487.1 antisense 100288866 0 0 2 2 0 0 0 0 0 ENSG00000249908 chr5 767382 768930 - BRD9P2 unprocessed_pseudogene 0 0 1 3 0 2 0 0 1 ENSG00000249909 chr2 178092503 178104470 - CYCTP unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249910 chr11 48945694 48951895 + TRIM51CP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249912 chr7 142695699 142696183 + TRBV26 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249915 chr5 271621 353856 + PDCD6 protein_coding This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]. 10016 GO:0070971, GO:0070971, GO:0070062, GO:0031463, GO:0031410, GO:0030127, GO:0005789, GO:0005783, GO:0005768, GO:0005737, GO:0005634, GO:0000139, endoplasmic reticulum exit site, endoplasmic reticulum exit site, extracellular exosome, Cul3-RING ubiquitin ligase complex, cytoplasmic vesicle, COPII vesicle coat, endoplasmic reticulum membrane, endoplasmic reticulum, endosome, cytoplasm, nucleus, Golgi membrane, GO:1990756, GO:0048306, GO:0046983, GO:0043495, GO:0042803, GO:0042802, GO:0030674, GO:0005515, GO:0005509, GO:0005509, GO:0000287, ubiquitin ligase-substrate adaptor activity, calcium-dependent protein binding, protein dimerization activity, protein-membrane adaptor activity, protein homodimerization activity, identical protein binding, protein-macromolecule adaptor activity, protein binding, calcium ion binding, calcium ion binding, magnesium ion binding, GO:1902527, GO:0097190, GO:0051898, GO:0051592, GO:0048208, GO:0045766, GO:0043280, GO:0036324, GO:0034605, GO:0032007, GO:0030948, GO:0016567, GO:0014032, GO:0014029, GO:0010595, GO:0006919, GO:0006888, GO:0006886, GO:0001938, GO:0001525, positive regulation of protein monoubiquitination, apoptotic signaling pathway, negative regulation of protein kinase B signaling, response to calcium ion, COPII vesicle coating, positive regulation of angiogenesis, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, vascular endothelial growth factor receptor-2 signaling pathway, cellular response to heat, negative regulation of TOR signaling, negative regulation of vascular endothelial growth factor receptor signaling pathway, protein ubiquitination, neural crest cell development, neural crest formation, positive regulation of endothelial cell migration, activation of cysteine-type endopeptidase activity involved in apoptotic process, endoplasmic reticulum to Golgi vesicle-mediated transport, intracellular protein transport, positive regulation of endothelial cell proliferation, angiogenesis, 429 463 472 320 518 415 387 397 340 ENSG00000249916 chr5 122369762 122383568 - AC119150.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249917 chr8 115950511 116325059 - LINC00536 lincRNA 100859921 0 0 0 0 0 0 0 0 0 ENSG00000249919 chr5 119555250 119555658 - FABP5P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249920 chr4 73938604 73939558 - HNRNPA1P55 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249921 chr5 108784098 108785552 + AC034207.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249923 chr22 20198729 20204918 - AC007663.2 antisense 284865 0 0 0 0 0 0 0 0 0 ENSG00000249924 chr4 155286162 155287136 - AC097467.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249926 chr12 131662596 131664704 + AC117500.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249927 chr5 18893902 18894168 - AC025768.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249928 chr5 14874400 14874711 - UQCRBP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249930 chr4 15492729 15492972 - AC007016.1 processed_pseudogene 0 1 0 0 1 0 0 2 0 ENSG00000249931 chr15 32392782 32403292 - GOLGA8K protein_coding 653125 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 1 3 5 1 3 1 0 0 0 ENSG00000249934 chr4 88508591 88510403 - NCOA4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249936 chr4 46723830 46724408 - RAC1P2 processed_pseudogene 18 11 11 4 11 7 7 12 8 ENSG00000249937 chr5 17684584 17955857 + LINC02223 lincRNA 0 0 1 0 1 1 0 0 0 ENSG00000249941 chr5 4866521 4874759 + AC026415.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249942 chr4 74552584 74589481 - AC239584.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249943 chr4 170814339 170814548 - AC097486.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249944 chr5 115489634 115489931 + AC008628.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249945 chr4 175458289 175466697 - AC131094.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249947 chr5 112885094 112885745 + XBP1P1 processed_pseudogene 1 0 4 5 1 7 5 0 3 ENSG00000249948 chr4 22692914 22819575 + GBA3 polymorphic_pseudogene The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]. 57733 GO:1902494, GO:0005829, GO:0005829, GO:0005829, catalytic complex, cytosol, cytosol, cytosol, GO:0102483, GO:0017042, GO:0017042, GO:0008422, GO:0008422, GO:0005515, GO:0004565, GO:0004565, GO:0004348, GO:0004348, GO:0004336, scopolin beta-glucosidase activity, glycosylceramidase activity, glycosylceramidase activity, beta-glucosidase activity, beta-glucosidase activity, protein binding, beta-galactosidase activity, beta-galactosidase activity, glucosylceramidase activity, glucosylceramidase activity, galactosylceramidase activity, GO:1903017, GO:1901805, GO:0051692, GO:0050821, GO:0046477, GO:0016139, GO:0006687, GO:0006683, GO:0006680, GO:0006680, GO:0006680, positive regulation of exo-alpha-sialidase activity, beta-glucoside catabolic process, cellular oligosaccharide catabolic process, protein stabilization, glycosylceramide catabolic process, glycoside catabolic process, glycosphingolipid metabolic process, galactosylceramide catabolic process, glucosylceramide catabolic process, glucosylceramide catabolic process, glucosylceramide catabolic process, 0 0 0 0 0 1 0 0 0 ENSG00000249950 chr5 125862746 125863193 - AC010587.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249951 chr4 94675245 94702570 + AC108067.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249955 chr4 169981747 169993806 + AC084866.1 antisense 1 0 0 1 1 1 0 0 4 ENSG00000249956 chr4 69408828 69423164 + UGT2B24P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249958 chr5 92889387 92890840 - CCT7P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249959 chr5 107699835 107716841 - AC024587.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249960 chr4 82571137 82571814 + AC067942.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249961 chr16 66754976 66801620 - TERB1 protein_coding 283847 GO:0070187, GO:0070187, GO:0005637, GO:0000781, shelterin complex, shelterin complex, nuclear inner membrane, chromosome, telomeric region, GO:0005515, protein binding, GO:0070197, GO:0070197, GO:0045141, GO:0007129, GO:0007129, meiotic attachment of telomere to nuclear envelope, meiotic attachment of telomere to nuclear envelope, meiotic telomere clustering, homologous chromosome pairing at meiosis, homologous chromosome pairing at meiosis, 0 0 0 0 0 0 0 0 0 ENSG00000249962 chr10 89644603 89645223 - AL157400.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249963 chr5 99996547 99997932 + EEF1A1P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249965 chr4 109555170 109555732 + CDC42P4 processed_pseudogene 0 0 0 0 1 0 5 1 0 ENSG00000249966 chr5 1850950 1851497 + AC025183.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249967 chr10 97584374 97673910 + AL355315.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000249970 chr4 73543822 73544013 + AC074250.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249971 chr5 138347027 138349641 - AC104116.1 antisense 813 833 899 1509 1798 1330 1202 966 861 ENSG00000249973 chr4 87785920 87786371 - CHCHD2P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249975 chr3 98207423 98208341 + OR5H3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249976 chr4 73337233 73337771 - AC108157.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249977 chr5 97449358 97449741 - AC106748.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249978 chr7 38335041 38335514 - TRGV7 TR_V_pseudogene 7 5 7 5 2 15 7 2 3 ENSG00000249981 chr5 71445616 71446569 + AC145141.1 lincRNA 107987420 0 0 0 0 0 0 0 0 0 ENSG00000249982 chr17 51332679 51334090 + AC005823.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249984 chr5 92675956 92688254 - AC026780.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249985 chr4 68907918 68908034 - AC021146.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249986 chr3 141600276 141600579 - YWHAQP6 processed_pseudogene 9 3 5 1 0 6 2 4 0 ENSG00000249987 chr19 34022656 34023427 - RPS4XP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249988 chr4 14164455 14242813 + AC092546.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000249990 chr5 98409675 98410100 - MTCO2P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249992 chr3 45224466 45226278 - TMEM158 protein_coding Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. An allelic polymorphism in this gene results in both functional and non-functional (frameshifted) alleles; the reference genome represents the functional allele. [provided by RefSeq, Jul 2015]. 25907 GO:0016021, integral component of membrane, GO:0042277, peptide binding, 9 8 8 0 3 4 1 3 4 ENSG00000249993 chr3 133429269 133455776 - BFSP2-AS1 antisense 85003 2 1 3 0 4 4 2 2 4 ENSG00000249994 chr5 4033713 4041764 - AC025187.1 lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000249995 chr4 12639086 12641009 + ECM1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249996 chr5 123036271 123054667 + AC106786.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000249997 chr2 130277184 130277957 + MTCO3P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000249998 chr4 16973275 17073903 - AC106894.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250001 chr5 9519853 9523178 - AC027335.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000250003 chr5 38025697 38183932 + LINC02107 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250006 chr4 77311397 77312111 - AC008638.2 processed_pseudogene 0 0 0 0 1 0 0 0 1 ENSG00000250007 chr15 34755084 34812923 + AC087457.1 antisense 0 0 0 3 0 0 0 0 0 ENSG00000250011 chr2 230515023 230515638 + HMGB1P3 processed_pseudogene 5 5 6 1 5 2 2 8 7 ENSG00000250012 chr3 126084220 126095349 + AC079848.1 antisense 0 0 0 2 0 0 0 1 0 ENSG00000250013 chr5 83875166 83875821 - AC093286.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250015 chr5 116302354 116304134 - AC018752.1 lincRNA 0 0 0 0 2 0 1 0 0 ENSG00000250016 chr4 49233289 49233965 - SNX18P23 processed_pseudogene 0 0 3 0 0 0 0 0 0 ENSG00000250017 chr5 45574590 45576612 + AC117529.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250020 chr5 58198 58915 + AC113430.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250021 chr15 89834308 89912882 - C15orf38-AP3S2 protein_coding This locus represents naturally occurring read-through transcription between the neighboring C15orf38 (chromosome 15 open reading frame 38) and AP3S2 (adaptor-related protein complex 3, sigma 2 subunit) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]. 100526783 0 0 0 0 0 0 0 0 0 ENSG00000250024 chr4 188990715 189002075 - AC122138.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250025 chr5 146307098 146376963 - AC011396.2 antisense 0 0 0 2 0 0 0 0 0 ENSG00000250026 chr4 68184081 68218080 - TMPRSS11BNL transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250027 chr4 163108785 163119965 + AC022272.1 antisense 0 0 0 1 1 8 2 0 3 ENSG00000250030 chr4 67446267 67446574 + AC104806.1 processed_pseudogene 0 0 0 0 0 0 3 1 0 ENSG00000250031 chr8 58424588 58426685 - AC009927.1 processed_pseudogene 91 127 74 4 17 13 12 14 15 ENSG00000250032 chr5 37939365 37947955 - AC008869.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250033 chr4 138057464 138178177 + SLC7A11-AS1 processed_transcript 641364 5 21 31 6 8 8 6 6 9 ENSG00000250034 chr4 137807706 137816402 + AC131956.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250036 chr2 89884740 89885216 + IGKV1D-37 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000250037 chr5 8455946 8456558 - AC091965.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250038 chr4 28362279 28402864 - AC109588.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250039 chr4 21949015 22330330 + AC096719.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250040 chr4 10254926 10256621 - RAF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250041 chr11 10884885 10899322 - AC069360.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250042 chr4 187370648 187371921 + LINC02514 lincRNA 105377602 0 0 0 0 0 0 0 0 0 ENSG00000250043 chr4 173877471 173913252 - AC106895.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250045 chr5 112777630 112778161 - CBX3P3 processed_pseudogene 0 0 0 3 1 4 0 0 8 ENSG00000250046 chr4 112693047 112706810 - AC106864.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250048 chr5 39892138 40053324 + LINC00603 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250049 chr5 92082597 92479426 + AC114316.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250050 chr4 25718082 25719745 - MTND4P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250053 chr4 190037916 190038399 - RARRES2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250056 chr5 6582136 6588499 + LINC01018 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000250057 chr4 83233512 83247213 - AC114781.2 lincRNA 2 3 1 2 15 0 4 1 0 ENSG00000250060 chr5 6868559 6886787 + AC122710.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250062 chr4 86117912 86219926 + AC104827.1 antisense 101929064 0 0 0 0 0 0 0 0 0 ENSG00000250064 chr4 28435449 28600275 + AC097480.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250066 chr5 68963246 68967845 + AC093248.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250067 chr19 19528861 19537581 + YJEFN3 protein_coding 374887 GO:0016020, GO:0005739, membrane, mitochondrion, GO:0052857, GO:0052856, GO:0005515, NADPHX epimerase activity, NADHX epimerase activity, protein binding, GO:0071425, GO:0031580, GO:0016525, GO:0010874, GO:0008593, GO:0006869, GO:0002040, hematopoietic stem cell proliferation, membrane raft distribution, negative regulation of angiogenesis, regulation of cholesterol efflux, regulation of Notch signaling pathway, lipid transport, sprouting angiogenesis, 9 11 12 26 27 25 18 27 18 ENSG00000250068 chr9 112581779 112582590 - AL445187.1 unprocessed_pseudogene 0 2 0 0 0 0 1 0 0 ENSG00000250069 chr5 140200163 140203187 + AC011379.1 sense_intronic 15 28 23 115 148 163 115 77 102 ENSG00000250071 chr5 74798994 74800100 + AC093214.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250072 chr5 149063317 149109787 + SH3TC2-DT lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250073 chr11 124759129 124765936 + AP000866.2 antisense 101929340 0 0 0 2 0 0 0 0 1 ENSG00000250074 chr4 10267895 10268231 - AC006499.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250075 chr4 67417305 67468251 - AC104806.2 lincRNA 101927237 0 0 0 2 0 0 3 0 0 ENSG00000250076 chr4 33010948 33011746 - AC017013.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250078 chr4 58562165 58565122 - AC019133.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250079 chr5 28213359 28214559 - AC093300.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250080 chr5 127170535 127172266 - AC011416.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250081 chr5 65486444 65487048 - AC025176.1 lincRNA 0 0 1 0 0 0 1 0 0 ENSG00000250082 chr4 170481695 170482195 - AC074255.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250084 chrX 52448587 52451138 - BX510359.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250088 chr5 17587290 17587523 - AC233724.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250090 chr20 25835985 25836832 - AL390198.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250091 chr12 123925461 123934984 - DNAH10OS antisense 0 0 0 0 0 0 0 0 0 ENSG00000250092 chr4 21582096 21613728 + AC096576.3 antisense 105374516 0 0 0 0 0 0 0 0 0 ENSG00000250095 chr5 111912508 112017309 + NREP-AS1 antisense 100873948 0 0 0 0 0 0 0 0 0 ENSG00000250098 chr4 12947574 12948670 - AC007370.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250099 chr5 24749374 24749772 - AC091893.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250100 chr4 69131351 69134814 + AC111000.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250101 chr5 177939622 177983054 + AC106795.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250102 chr4 131380013 131541397 + LINC02377 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250103 chr4 110595513 110615458 - PANCR lincRNA 110231149 0 0 0 0 0 0 0 0 0 ENSG00000250105 chr11 66558866 66560384 - AP002748.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250106 chr5 10627260 10628225 - ANKRD33B-AS1 antisense 0 0 1 0 0 0 0 0 1 ENSG00000250107 chr17 50556207 50562108 - CACNA1G-AS1 antisense 253962 0 0 0 0 0 0 0 0 0 ENSG00000250111 chr17 18835707 18842364 + AC107982.1 unprocessed_pseudogene 101929141 0 0 0 0 0 0 0 0 0 ENSG00000250114 chr5 163416525 163416731 + AC008723.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250115 chr8 143057060 143057816 - AK3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250116 chr2 46568256 46580238 - AC018682.1 antisense 100506142 69 93 104 48 95 86 54 77 72 ENSG00000250118 chr5 30365405 30365684 - AC114300.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250120 chr5 140855883 141012344 + PCDHA10 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56139 GO:0005887, GO:0005576, integral component of plasma membrane, extracellular region, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000250122 chr5 45890216 45895970 + AC122694.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000250124 chr5 86380660 86381426 - AC016550.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250125 chr4 64914281 65024485 - LINC02232 lincRNA 401134 0 0 0 0 0 0 0 0 0 ENSG00000250126 chr4 137645265 137655174 - AC116563.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250127 chr5 58541567 58558243 - LINC02108 lincRNA 101928600 0 0 0 0 0 0 0 0 0 ENSG00000250129 chr3 131053317 131072339 - AC116424.1 antisense 1 0 0 0 3 0 0 0 0 ENSG00000250130 chr15 44354691 44355692 + AC090519.1 processed_pseudogene 9 9 19 2 14 10 7 4 7 ENSG00000250131 chr4 177444979 177677126 + AC078881.1 antisense 0 1 0 2 1 2 0 3 0 ENSG00000250132 chr12 974133 991190 - AC004803.1 antisense 0 0 0 0 2 3 13 0 0 ENSG00000250133 chr12 53993810 53996785 - HOXC-AS2 processed_transcript 100874364 0 0 0 0 0 0 0 0 0 ENSG00000250135 chr1 32170733 32176568 + AL049795.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000250137 chr4 23560923 23768652 + AC093607.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250138 chr5 69631963 69636399 + AC139495.3 unprocessed_pseudogene 136 255 200 166 408 315 145 246 253 ENSG00000250140 chr5 34860783 34861506 - AC026801.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250141 chr4 141569931 141576077 - LINC02276 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250144 chr4 135045464 135046850 + AC104619.3 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000250145 chr5 106543066 106544330 - AC114940.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250147 chr4 54086926 54087783 + MORF4L2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250148 chr5 60743563 60744970 - KRT8P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250149 chr4 125676718 125752793 + AC105919.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250150 chr4 167306910 167308789 - AC079349.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250151 chr3 9793082 9835401 + ARPC4-TTLL3 protein_coding This locus represents naturally occurring read-through transcription between the neighboring ARPC4 (actin related protein 2/3 complex, subunit 4) and TTLL3 (tubulin tyrosine ligase-like family, member 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]. 100526693 1 0 0 0 0 0 1 0 0 ENSG00000250155 chr5 36666214 36725195 - AC008957.1 antisense 1 1 4 1 4 4 6 2 0 ENSG00000250156 chr5 88408982 88439090 - LINC02060 lincRNA 102546226 0 0 0 0 0 0 0 0 0 ENSG00000250158 chr5 96247776 96278751 + AC099509.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250159 chr5 137814333 137889336 - AC106791.1 antisense 0 0 4 1 1 6 0 2 5 ENSG00000250161 chr3 139845078 139845411 - TRMT112P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250162 chr5 98833382 98833711 + CSNK1A1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250164 chr5 31747644 31748078 - AC022447.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250166 chr12 22601425 22618867 + AC087241.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250167 chr5 135559577 135634874 + AC034206.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250169 chr4 64609454 64610532 - MTND5P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250170 chr3 141525133 141526121 + RASA2-IT1 sense_intronic 0 2 0 0 1 6 2 0 0 ENSG00000250173 chr5 979365 981300 + AC122719.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250174 chr3 123689644 123692407 + MYLK-AS2 antisense 100873940 0 0 0 0 0 0 0 0 0 ENSG00000250180 chr4 159398533 159401246 + AC074344.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250182 chr5 14651941 14653329 - EEF1A1P13 processed_pseudogene 2 0 6 6 2 14 2 3 10 ENSG00000250183 chr4 119937557 119963898 + AC097173.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250185 chr4 108788745 108789779 - RCC2P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250186 chr17 49404081 49405197 + AC091180.3 antisense 24 12 18 28 21 36 33 7 29 ENSG00000250189 chr4 141405172 141407586 + AC097504.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000250190 chr4 28996524 29014594 + LINC02364 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250191 chr4 133574566 133575208 - AC105252.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250192 chr4 57154577 57156452 + AC105390.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250193 chr4 129299175 129305022 - AC082650.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250194 chr5 125074665 125074980 + AC109458.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250195 chr4 138819954 139012646 - AC109927.1 antisense 105377448 3 2 6 1 7 7 7 3 0 ENSG00000250197 chr5 115289036 115289330 - HMGN1P15 processed_pseudogene 0 0 0 1 0 0 0 0 1 ENSG00000250198 chr5 8839732 8881525 + LINC02199 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250200 chr4 174923813 174924038 - AC105914.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250202 chr4 86876338 86876652 + AC093827.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250204 chrY 6242446 6245283 - TTTY23B transcribed_unprocessed_pseudogene 100101121 0 0 0 0 0 0 0 0 0 ENSG00000250205 chr4 155381042 155381239 - YWHAEP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250207 chr2 129992602 129993105 - AC079776.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250208 chr12 130144315 130162256 - FZD10-DT processed_transcript 440119 0 0 0 0 0 5 0 0 0 ENSG00000250210 chr9 138286248 138286430 + FO082796.1 unprocessed_pseudogene 2 0 4 3 2 0 17 21 0 ENSG00000250213 chr4 131112748 131113255 + AC025554.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250214 chr4 77864508 77864804 - AC112225.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000250215 chr4 114713579 114714920 - CIR1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250218 chr3 126103640 126108069 + ALDH1L1-AS1 antisense 100874204 0 0 0 0 0 0 0 0 0 ENSG00000250219 chr4 120091046 120092282 - LTV1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250220 chr4 73259209 73317953 + AC053527.1 antisense 1 2 5 5 4 9 0 4 3 ENSG00000250221 chr5 98392070 98393530 - KRT8P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250222 chr5 181191924 181194429 + AC008443.4 antisense 3 0 0 4 0 0 0 1 0 ENSG00000250223 chr4 100660279 100675113 - LINC01216 sense_intronic 100874275 0 0 0 0 0 0 0 0 0 ENSG00000250227 chr4 164915565 164916983 + TRIM60P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250229 chr4 113840050 113840236 + AC111193.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250230 chr11 61588494 61607550 + AP002754.1 lincRNA 101927495 0 0 0 0 0 0 0 0 0 ENSG00000250231 chr4 9239130 9240722 + USP17L16P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250234 chr5 34656412 34657250 - AC025754.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250237 chr5 69038518 69043821 - AC010273.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250238 chr4 105959 107114 - AC253576.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250240 chr5 95701249 95732295 - AC008840.1 antisense 5 2 5 8 0 0 0 1 0 ENSG00000250241 chr4 133075311 133149116 - AC105383.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250242 chr5 115087892 115088475 - AC094104.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250243 chr4 21304542 21316485 + AC110296.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250244 chr5 133256492 133275977 + AC010307.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250247 chr5 14960232 14961393 + SEPHS2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250249 chr4 62291562 62292337 + AC105313.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250250 chr5 15602189 15607348 - AC010638.1 antisense 101929472 0 0 0 0 0 0 0 0 0 ENSG00000250251 chr16 15125242 15154564 - PKD1P6 transcribed_unprocessed_pseudogene 6 5 6 10 5 16 4 4 12 ENSG00000250252 chr4 149147802 149149780 - LINC02430 lincRNA 107986319 0 0 0 0 0 0 0 0 0 ENSG00000250253 chr5 85210060 85210903 - AC117522.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250254 chr4 37960435 37961125 + PTTG2 protein_coding 10744 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0017124, GO:0003674, SH3 domain binding, molecular_function, GO:2000816, GO:0051276, GO:0045143, negative regulation of mitotic sister chromatid separation, chromosome organization, homologous chromosome segregation, 15 10 14 9 19 33 18 17 23 ENSG00000250256 chr5 174618164 174625775 + AC108112.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250257 chr11 83814571 83815263 - LDHAL6DP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250258 chr5 79774348 79816190 - AC008496.2 antisense 1 0 0 0 0 2 0 1 0 ENSG00000250259 chr4 1027678 1028972 + AC019103.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250260 chr5 138039199 138039979 + AC113382.2 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000250261 chr22 20587496 20592218 - CCDC74BP1 unprocessed_pseudogene 19 12 11 23 21 19 9 28 15 ENSG00000250263 chr4 176875702 176880605 + LINC02509 lincRNA 105377556 0 0 0 0 0 0 0 0 0 ENSG00000250264 chr6 32813767 32838822 - AL669918.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000250266 chr4 170273919 170283079 + LINC01612 lincRNA 101928223 0 0 0 0 0 5 0 0 0 ENSG00000250267 chr8 109298598 109316513 + AC021237.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250268 chr4 9166297 9170270 - ALG1L14P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250271 chr3 151797047 151808249 + AC068647.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250272 chr4 116378919 116379269 + TRMT112P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250273 chr5 107195156 107195332 + PSMC1P5 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000250274 chr5 170308701 170312716 - AC034199.1 lincRNA 100128059 157 174 302 218 276 405 251 256 266 ENSG00000250277 chr4 68996935 68997709 - AC021146.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250280 chr12 65281657 65286728 + AC026124.1 sense_intronic 1 0 0 1 2 0 0 0 0 ENSG00000250282 chr17 50100704 50101920 - AC002401.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000250284 chr5 136734927 136763409 + AC109439.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250286 chr17 50537294 50538754 - AC021491.2 processed_transcript 105371824 0 0 0 0 0 0 0 1 0 ENSG00000250289 chr5 68854910 68855085 - VWA8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250290 chr8 120635558 120638204 - NCAPGP1 processed_pseudogene 0 1 1 7 2 9 0 0 2 ENSG00000250292 chr4 183380345 183381705 + AC093844.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250293 chr4 97916353 97917401 - CRYZP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250295 chr8 73297711 73356461 - RDH10-AS1 antisense 101926926 0 1 0 3 4 3 4 3 0 ENSG00000250298 chr4 106357485 106368825 - GIMD1 protein_coding 100507096 GO:0005525, GTP binding, 0 0 0 0 0 0 0 0 0 ENSG00000250299 chr13 52600119 52637446 + MRPS31P4 transcribed_unprocessed_pseudogene 2 0 5 0 0 0 0 0 3 ENSG00000250300 chr4 99469598 99498698 - AP001960.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250302 chr4 52789994 52815464 + LINC01618 lincRNA 152578 0 0 0 0 2 0 0 0 0 ENSG00000250303 chr11 112270749 112362534 + AP002884.1 lincRNA 283140 84 22 45 33 16 26 32 11 20 ENSG00000250304 chr4 110291644 110293573 + ZBED1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250305 chr8 12945642 13031503 + TRMT9B protein_coding 57604 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0016706, GO:0016300, GO:0008175, GO:0000049, 2-oxoglutarate-dependent dioxygenase activity, tRNA (uracil) methyltransferase activity, tRNA methyltransferase activity, tRNA binding, GO:0055114, GO:0030488, GO:0006400, GO:0002098, oxidation-reduction process, tRNA methylation, tRNA modification, tRNA wobble uridine modification, 0 0 0 0 0 0 0 0 2 ENSG00000250306 chr5 88382948 88383260 + AC091826.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250307 chr4 112077598 112078400 + TUBB8P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250308 chr5 57422464 57424391 + SALL4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250309 chr5 150670658 150672390 - AC008453.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250310 chr17 49544788 49577962 - AC006487.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000250312 chr4 124480 202303 + ZNF718 protein_coding 255403 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 42 34 35 43 42 15 40 31 34 ENSG00000250313 chr5 66507544 66511604 - LINC02229 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250315 chr4 75101477 75101943 + AC110760.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250316 chr8 19237737 19241912 + AC068880.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250317 chr4 25861830 25929874 + SMIM20 protein_coding 389203 GO:0016021, GO:0005743, GO:0005743, GO:0005576, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, extracellular region, GO:0005515, protein binding, GO:0033617, GO:0033617, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, 39 33 51 22 30 34 16 16 34 ENSG00000250318 chr22 30653877 30654814 - AC003072.1 unprocessed_pseudogene 31 27 21 59 63 56 46 27 54 ENSG00000250319 chr5 23262159 23263185 - AC010460.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250320 chr5 84384427 84490765 + AC113383.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250321 chr4 342821 342962 - AC079140.2 processed_pseudogene 2 2 2 3 0 1 2 0 1 ENSG00000250322 chr4 123259949 123260118 - AC026402.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250324 chr4 56320719 56321334 - MRPL22P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250325 chr4 82401578 82402456 - IGBP1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250326 chr4 142933195 143184861 - AC104596.1 antisense 105377623 2 7 3 4 1 0 0 3 0 ENSG00000250327 chr4 186157896 186158843 + RPSAP70 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250328 chr5 122436497 122479087 - MGC32805 antisense 153163 0 0 0 0 3 0 0 0 0 ENSG00000250329 chr5 128109486 128110994 + KDELC1P1 processed_pseudogene 0 1 0 9 2 8 0 0 0 ENSG00000250330 chr5 79229904 79230588 + AC016559.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000250331 chr5 97504696 97671046 + LINC01340 lincRNA 102546227 0 0 0 0 0 0 0 0 0 ENSG00000250332 chr5 23303565 23305143 - AC010460.3 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000250333 chr4 57605694 57658800 - AC093725.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250334 chr4 79492416 79576460 + LINC00989 lincRNA 100506035 0 0 0 0 0 3 0 1 0 ENSG00000250337 chr5 27472292 27496401 + PURPL lincRNA 643401 0 0 0 0 0 0 0 0 0 ENSG00000250338 chr4 40265472 40266457 + AC095057.2 lincRNA 0 0 0 0 0 4 0 0 0 ENSG00000250339 chr4 73944011 73944324 - CXCL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250340 chr4 58524515 58536328 - LINC02494 lincRNA 105377671 0 0 0 0 0 0 0 0 0 ENSG00000250341 chr4 137193756 137198367 + LINC02510 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250342 chr4 9051842 9052051 - SNRPCP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250343 chr5 147180204 147234859 - STK32A-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250344 chr4 121071429 121080476 + AC105254.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250345 chr4 143760399 143762093 - AC104090.1 processed_pseudogene 0 0 0 0 2 3 0 0 2 ENSG00000250346 chr5 147922179 147923421 + EEF1GP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250347 chr5 142036707 142037125 - AC005740.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250348 chr5 76285542 76311462 - AC113404.1 antisense 0 0 1 2 0 0 2 0 2 ENSG00000250349 chrX 37349330 38687674 + AF241726.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000250350 chr4 151279030 151279192 - AC104819.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250351 chr5 17620533 17620939 - AC233724.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250354 chr4 148146471 148208880 + AC069272.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000250356 chr4 74917822 74918138 + HSPE1P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250357 chr4 148693032 148694323 + AC108935.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250358 chr5 112628436 112632100 + LINC02200 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250359 chr5 86087526 86087847 + PTP4A1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250360 chr5 50965687 50967008 - AC008808.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250361 chr4 143996104 144019345 - GYPB protein_coding Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. 2994 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0005515, protein binding, GO:0050900, leukocyte migration, 1 0 0 0 0 0 0 0 0 ENSG00000250362 chr5 95861786 95874519 + AC008592.1 processed_transcript 1 0 0 0 0 0 0 0 0 ENSG00000250363 chr4 115920707 115921978 + KRT18P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250365 chr14 31420286 31452883 + AL139353.2 antisense 101927124 33 15 43 14 21 33 19 22 44 ENSG00000250366 chr14 95876392 95925571 + TUNAR protein_coding 0 0 0 0 0 0 0 2 0 ENSG00000250371 chr4 12859101 12864961 - AC007370.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250372 chr4 176012038 176014417 - MARK2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250374 chr4 165053864 165060554 + TRIM75P protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000250375 chr4 59047020 59075256 - AC097501.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250376 chr4 68784618 68787474 + AC093720.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250377 chr5 88692645 88693972 - AC008525.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250378 chr5 135812667 135827546 + AC114296.1 processed_transcript 107986453 0 0 0 0 0 0 0 0 0 ENSG00000250379 chr15 41825099 41827936 - AC020659.2 antisense 20 17 22 18 38 6 33 16 40 ENSG00000250381 chr4 4143458 4150421 - UNC93B4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250383 chr5 108818041 108830790 - AC008871.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250384 chr4 57072683 57073132 + UBE2CP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250385 chr5 524705 526594 + AC106772.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250386 chr5 17625551 17625959 - AC233724.9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250387 chr5 71351855 71446342 - LINC02197 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250389 chr5 8618581 8619104 - MTND6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250390 chr11 95482406 95497553 + AP001790.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250391 chr5 99948295 99949583 - AC092284.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250392 chr4 119939540 119964293 + LINC02502 lincRNA 100996694 0 0 0 0 0 0 0 0 0 ENSG00000250393 chr4 10143367 10143655 - AC093664.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250397 chr11 856880 859795 - AP006623.1 antisense 0 2 0 2 1 0 2 1 0 ENSG00000250398 chr4 155383107 155384102 - AC097467.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250402 chr5 125376828 125377439 - AC109471.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250403 chr4 99990737 99991477 - AC097460.2 processed_pseudogene 0 0 0 1 0 0 3 0 0 ENSG00000250405 chr5 130994253 130996164 + AC113367.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250406 chr4 144851572 144874787 + AC109811.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250407 chr5 146563226 146617004 + AC008728.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250409 chr5 133387773 133388549 + AC010608.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250410 chr4 185370725 185390928 + AC112722.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250412 chr4 119334329 119378233 + KLHL2P1 unprocessed_pseudogene 0 1 0 2 1 0 0 0 0 ENSG00000250413 chr4 10006482 10009725 + AC005674.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250415 chr5 16617225 16621276 + AC022113.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250416 chr4 35487812 35489750 + SEC63P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250417 chr5 1855970 1856568 - LINC02116 lincRNA 101929034 0 0 0 0 0 0 0 0 0 ENSG00000250418 chr5 44698431 44700808 - AC093292.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250420 chr5 178764861 178818435 - AACSP1 transcribed_unprocessed_pseudogene 729522 0 0 0 0 0 0 0 0 0 ENSG00000250421 chr5 67699429 67902600 - AC106798.1 lincRNA 0 1 0 0 0 0 0 1 0 ENSG00000250422 chr5 45557919 45559986 + AC117529.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250423 chrX 119078635 119150579 - KIAA1210 protein_coding 57481 GO:0061832, GO:0001669, basal ectoplasmic specialization, acrosomal vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000250424 chr7 30852273 30923812 + AC004691.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000250425 chr4 9754898 9755778 + OR7E35P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250426 chr4 68182292 68212470 + FTLP10 transcribed_processed_pseudogene 100130017 0 0 0 0 0 0 0 0 0 ENSG00000250427 chr5 118282575 118284782 + LINC02148 lincRNA 100505811 0 0 0 0 0 0 0 0 0 ENSG00000250428 chr8 124920428 124922076 + AC100858.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250430 chr4 165026261 165026944 - AC106872.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250431 chr4 174977571 174979381 - AC105914.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250432 chr12 54085132 54125992 - FAM242C lincRNA 0 0 0 0 1 5 0 1 0 ENSG00000250433 chr3 140505611 140508789 - CLSTN2-AS1 antisense 101927808 0 0 0 0 0 0 0 0 0 ENSG00000250436 chr4 73508803 73534128 + LINC02499 lincRNA 728040 0 0 0 1 0 0 0 0 0 ENSG00000250437 chr5 89581209 89677701 + LINC02161 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250438 chr5 124469591 124469901 + AC025465.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250441 chr5 108894347 108894628 - AC109481.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250442 chr4 116043407 116044045 - EIF3KP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250444 chr5 115512077 115513694 + CCT5P1 processed_pseudogene 1 2 0 0 5 4 0 0 2 ENSG00000250446 chr5 74327995 74334766 - LINC01332 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250447 chr5 53776644 53819686 - LINC02105 lincRNA 105378966 0 0 0 0 0 0 0 0 0 ENSG00000250448 chr5 16180238 16185585 + AC092335.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250451 chr12 53999022 54000010 - HOXC-AS1 antisense 100874363 0 0 0 0 0 0 0 0 0 ENSG00000250453 chr5 28782678 28809249 - AC008825.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250455 chr5 37377049 37377971 + AC117532.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250456 chr4 54603211 54607131 - LINC02260 lincRNA 339978 0 0 0 0 0 0 0 0 0 ENSG00000250458 chr4 123861860 123862015 - AC093767.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250461 chr5 61375112 61375855 + AC122718.1 processed_pseudogene 11 20 25 32 42 52 34 31 24 ENSG00000250462 chr17 30629680 30637466 + LRRC37BP1 transcribed_unprocessed_pseudogene 16 14 27 20 11 42 11 10 17 ENSG00000250464 chr4 55313011 55313924 - LRRC34P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250467 chr4 41748293 41824119 + AC105389.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250470 chr22 23976904 23977585 - AC253536.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250471 chr4 8174421 8174999 + GMPSP1 processed_pseudogene 0 1 3 0 0 1 1 1 0 ENSG00000250472 chr5 115148764 115149644 - TRIM36-IT1 sense_intronic 1 0 0 1 0 0 1 0 0 ENSG00000250473 chr4 51865050 51865535 - DUTP7 processed_pseudogene 0 0 0 0 0 3 0 0 1 ENSG00000250474 chr7 107628553 107629550 + WBP1LP2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000250475 chr4 157968412 157969615 - AC017037.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250476 chr4 3967034 3967660 - ENPP7P9 processed_pseudogene 0 1 0 0 1 3 0 2 0 ENSG00000250479 chr22 23765834 23768443 - CHCHD10 protein_coding This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]. 400916 GO:0061617, GO:0005758, GO:0005739, GO:0005739, GO:0005634, MICOS complex, mitochondrial intermembrane space, mitochondrion, mitochondrion, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1903852, GO:1903109, GO:1901030, GO:0099558, GO:0090144, GO:0065003, GO:0051457, GO:0030322, GO:0007005, GO:0007005, GO:0007005, GO:0006119, positive regulation of cristae formation, positive regulation of mitochondrial transcription, positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, maintenance of synapse structure, mitochondrial nucleoid organization, protein-containing complex assembly, maintenance of protein location in nucleus, stabilization of membrane potential, mitochondrion organization, mitochondrion organization, mitochondrion organization, oxidative phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000250480 chr5 57120796 57122624 + AC034244.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250481 chr5 4974690 5034267 - AC010451.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250482 chr5 31249879 31250987 + DUX4L51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250483 chr8 15806149 15807283 - PPM1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250484 chr4 124062462 124062990 + PPIAP76 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250485 chr4 108417705 108419763 - EXOC7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250486 chr4 164956948 164959122 + FAM218A protein_coding 152756 GO:0005515, protein binding, 0 0 0 1 0 2 1 0 0 ENSG00000250488 chr4 159666503 159777784 - LINC02233 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250490 chr5 6310441 6339884 - LINC02145 lincRNA 401172 3 1 0 3 0 6 3 1 2 ENSG00000250492 chr5 39718984 39721513 - INTS6P1 processed_pseudogene 6 1 6 2 1 1 0 1 10 ENSG00000250493 chr11 120867933 120894797 - AP004147.1 antisense 101929227 0 0 0 0 0 0 0 0 0 ENSG00000250494 chr8 53162339 53162987 + AC009646.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250496 chr4 99022311 99023131 - ABT1P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000250497 chr4 13777377 13782157 - AC007126.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000250500 chr4 112797050 112798691 - AC017007.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250501 chr4 138773550 138801639 + AC093766.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250503 chr4 130881027 130885641 - AC093831.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250504 chr4 144572238 144572983 + KRT18P51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250505 chr4 10284961 10285708 - AC006499.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250506 chr17 76000906 76005999 + CDK3 protein_coding This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq, Jul 2008]. 1018 GO:0005634, nucleus, GO:0005524, GO:0005515, GO:0004693, ATP binding, protein binding, cyclin-dependent protein serine/threonine kinase activity, GO:0051726, GO:0051301, GO:0045023, GO:0008283, GO:0006974, GO:0006468, GO:0000082, regulation of cell cycle, cell division, G0 to G1 transition, cell population proliferation, cellular response to DNA damage stimulus, protein phosphorylation, G1/S transition of mitotic cell cycle, 1 8 10 6 9 15 6 2 0 ENSG00000250507 chr19 54328272 54331434 - AC245884.6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250508 chr11 68870664 68874542 + AP000808.1 lincRNA 105369364 1 2 5 0 0 0 0 3 0 ENSG00000250509 chr5 180441559 180443238 + AC034213.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250510 chr12 6821545 6829972 + GPR162 protein_coding This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 27239 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004930, protein binding, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 628 222 124 248 138 81 254 118 50 ENSG00000250511 chr4 110512488 110519505 - AC098798.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250514 chr16 76634998 76658478 + LINC02125 lincRNA 101928203 0 0 0 0 0 0 0 0 0 ENSG00000250515 chr5 140732290 140732863 - AC116353.3 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000250516 chr8 28225929 28227562 + AC021678.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250517 chr12 63003553 63006902 + LDHAL6CP transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250519 chr11 94238150 94279206 + AP002784.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250522 chr4 105540190 105552355 - AC004066.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250523 chr4 188630924 188631747 + AC093909.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250524 chr5 24881943 24885461 - AC106821.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250526 chr5 14639426 14641018 - CCT6P2 processed_pseudogene 1 0 2 0 0 0 4 1 0 ENSG00000250529 chr5 5069192 5078311 - LINC02121 lincRNA 105374631 0 0 0 0 0 0 0 0 0 ENSG00000250532 chr4 74418917 74440457 - AC021180.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000250535 chr6 32013270 32013787 + STK19B unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250536 chr1 214605470 214608840 - ABHD17AP3 unprocessed_pseudogene 1 0 0 0 1 2 0 0 0 ENSG00000250538 chr4 155206529 155209027 - AC104407.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250539 chr5 123400922 123402344 - KRT8P33 processed_pseudogene 12 14 9 10 11 14 19 7 13 ENSG00000250540 chr4 143497412 143498126 - AC104685.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250541 chr4 25770266 25773577 + AC092436.4 antisense 1 0 0 0 0 4 1 0 3 ENSG00000250543 chr3 139688403 139689342 - AC110716.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250544 chr5 86746818 86749772 + LINC02059 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250546 chr4 83796436 84293412 - AC079160.1 processed_transcript 101928978 0 0 0 0 0 0 0 0 0 ENSG00000250547 chr4 163265575 163266583 - AC079238.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250548 chr14 61556313 61570653 - LINC01303 lincRNA 101927780 17 28 81 6 16 17 11 20 19 ENSG00000250550 chr4 73847866 73848829 + PPBPP1 transcribed_unprocessed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000250551 chr5 96050115 96215519 + MIR583HG lincRNA 1 0 0 2 0 0 0 0 3 ENSG00000250555 chr5 88692651 88692859 + AC008525.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250556 chr4 112068010 112068526 + CCDC34P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250560 chr4 75194867 75195079 + AC093870.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250561 chr7 6879627 6880626 - OR7E59P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250562 chr3 98525061 98525274 - RPL38P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250563 chr8 126072587 126074231 + KNOP1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250564 chr5 134429051 134460615 - AC109454.3 lincRNA 102546229 1 0 0 1 1 0 1 0 0 ENSG00000250565 chr2 46490750 46542557 - ATP6V1E2 protein_coding 90423 GO:0033178, GO:0005829, GO:0001669, proton-transporting two-sector ATPase complex, catalytic domain, cytosol, acrosomal vesicle, GO:0046961, GO:0008553, GO:0005515, proton-transporting ATPase activity, rotational mechanism, proton-exporting ATPase activity, phosphorylative mechanism, protein binding, GO:1902600, GO:0090383, GO:0034220, GO:0033572, GO:0016241, GO:0008286, proton transmembrane transport, phagosome acidification, ion transmembrane transport, transferrin transport, regulation of macroautophagy, insulin receptor signaling pathway, 11 6 4 19 8 23 7 7 9 ENSG00000250566 chr4 68509441 68517647 - UGT2B29P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250567 chr5 103408941 103412511 - AC010406.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250568 chr4 39973128 39973442 - AC098591.2 processed_pseudogene 2 0 0 0 0 1 0 2 0 ENSG00000250569 chr8 86481754 86483002 - NTAN1P2 processed_pseudogene 0 4 2 7 3 2 0 0 4 ENSG00000250571 chr8 143267433 143276931 + GLI4 protein_coding 2738 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0003674, GO:0000981, GO:0000978, metal ion binding, protein binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0006355, biological_process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 35 32 49 47 54 68 50 41 43 ENSG00000250572 chr4 87261931 87266822 - AC108516.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250573 chr4 10259445 10260138 - AC006499.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250574 chr5 76510440 76510766 + AC112173.1 processed_pseudogene 1 1 0 0 8 0 0 0 6 ENSG00000250575 chr1 491225 493241 - AL732372.3 unprocessed_pseudogene 50 72 75 54 63 89 66 63 64 ENSG00000250576 chr5 10775058 10777062 - AC012629.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250577 chr4 138923930 138924232 - AC109927.2 lincRNA 0 0 0 0 0 0 0 0 3 ENSG00000250579 chr5 5132780 5140054 - CTD-2297D10.2 antisense 101929176 0 0 0 0 0 0 0 0 0 ENSG00000250580 chr3 130199708 130199918 + SNRPCP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250582 chr4 145497073 145502971 - SMAD1-AS2 antisense 101927659 0 0 0 0 0 0 0 0 0 ENSG00000250583 chr5 33519616 33522230 - AC034232.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250584 chr5 1363582 1380067 - LINC01511 lincRNA 100506791 0 0 0 0 0 0 0 0 0 ENSG00000250585 chr5 40240173 40267657 + LINC00604 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000250587 chr5 30248350 30248893 + HPRT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250590 chr4 187532878 187672641 - LINC02492 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250591 chr7 142760415 142763943 + PRSS3P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000250592 chr3 130899414 130929976 - AC055733.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250594 chr4 110264865 110265017 - AC108145.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250596 chr4 174523701 174540344 - AC096751.1 transcribed_processed_pseudogene 1 0 1 2 0 4 0 0 1 ENSG00000250597 chr4 34657606 34669432 + AC093689.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250600 chr5 10441290 10441792 - ROPN1L-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250602 chr5 126372477 126509021 - AC093535.1 antisense 4 5 8 7 0 7 9 4 4 ENSG00000250603 chr5 127838486 127857804 - AC068658.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250604 chr4 158199105 158200442 - AC098679.1 antisense 0 0 0 0 1 2 0 0 0 ENSG00000250608 chr3 131325092 131381475 - AC010210.1 processed_transcript 339874 25 72 42 14 57 14 5 25 28 ENSG00000250609 chr4 154523487 154524807 + AC110753.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250611 chr4 20037560 20037972 - AC098862.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250612 chr4 69346609 69358177 + AC114786.2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000250613 chr4 10410996 10411644 + AC110768.2 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000250614 chr7 76474587 76478856 - AC005522.1 antisense 1 1 1 0 0 0 2 0 0 ENSG00000250615 chr5 77073881 77074520 + AC008581.1 antisense 3 0 0 0 0 3 1 0 0 ENSG00000250616 chr16 30096430 30104116 + AC012645.1 antisense 156 216 202 84 408 158 120 289 188 ENSG00000250618 chr7 57817996 57818197 + AC023141.11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250619 chr5 9001774 9045940 + AC021088.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250620 chr4 187413564 187415697 + LINC02515 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250622 chr4 156972631 156972956 + AC093325.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250623 chr4 2139673 2141058 + AL136360.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250624 chr4 30884443 30885182 - MTCYBP43 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250625 chrX 142194352 142195490 - AL031073.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250626 chr4 188777679 188796633 - AC093909.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250627 chr4 116193997 116194751 - TTC39CP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250629 chr5 38783580 38792754 + AC091435.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250630 chr3 106900854 106901081 - MTCO1P35 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250632 chr4 3673593 3677855 - LINC02171 lincRNA 100133461 0 0 0 0 0 0 0 0 0 ENSG00000250634 chr4 13655179 13977075 + LINC01182 lincRNA 101929071 0 0 0 0 0 2 0 0 0 ENSG00000250635 chr5 139648999 139649728 - CXXC5-AS1 lincRNA 111082989 0 0 0 0 0 0 0 0 2 ENSG00000250636 chr4 183028601 183029720 - AC019193.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250637 chr8 43442902 43452912 + AC134698.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250640 chr11 14987671 14988694 - OR7E41P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250641 chr6 31706904 31717918 + LY6G6F-LY6G6D protein_coding This locus represents naturally occurring readthrough transcription between the neighboring LY6G6F (lymphocyte antigen 6 family member G6F) and LY6G6D (lymphocyte antigen 6 family member G6D) genes on chromosome 6. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2017]. 110599563 0 0 0 0 0 0 0 0 0 ENSG00000250642 chr4 68282461 68285959 - AC098799.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250643 chr3 129954105 129969294 - AC083906.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250644 chr11 1734821 1763954 - AC068580.4 protein_coding 8 13 9 43 40 19 30 31 30 ENSG00000250645 chr5 418703 419109 + AC010442.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250646 chr4 55053060 55092534 + AC111194.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250650 chr5 117019548 117019679 - AC093534.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250651 chr4 102896725 102898237 + PABPC1P7 processed_pseudogene 1 0 1 1 2 0 0 0 0 ENSG00000250654 chr12 54076838 54081903 - AC023794.3 transcribed_unprocessed_pseudogene 100240735 0 0 0 0 0 3 4 2 0 ENSG00000250655 chr4 96212279 96213100 + AC096661.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250656 chr4 67716375 67717388 - ST3GAL1P1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000250657 chr4 43340875 43345600 + AC097451.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000250658 chr4 187304083 187309682 - AC097652.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000250659 chr11 62537312 62542018 + AP001363.1 antisense 0 0 0 4 0 2 0 0 7 ENSG00000250662 chr5 14877667 14877919 - HNRNPKP5 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000250665 chr4 136125909 136138874 + AC073429.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250666 chr4 189881515 189884868 + LINC01596 lincRNA 105377617 0 0 0 0 0 0 0 0 0 ENSG00000250667 chr5 17495658 17495826 - AC106774.3 processed_pseudogene 3 4 4 3 2 7 6 8 15 ENSG00000250668 chr5 7346986 7347977 - LINC02123 lincRNA 101929261 0 0 0 0 0 0 0 0 0 ENSG00000250669 chr5 67690033 67690437 - AC112206.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250670 chr4 104556960 104568877 + AC004063.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250672 chr5 33090126 33090349 - AC010343.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250673 chr4 146214515 146230878 + REELD1 protein_coding 345051 GO:0016021, integral component of membrane, 5 1 2 0 3 4 2 0 1 ENSG00000250674 chr5 179455415 179456095 + AC136628.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250677 chr4 83237303 83237444 + AC114781.3 processed_pseudogene 1 2 0 3 4 3 4 1 0 ENSG00000250678 chr5 119010060 119010542 + AC008629.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250681 chr4 3633029 3633975 + AL121796.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250682 chr5 102609156 102671559 - LINC00491 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250684 chr8 102688317 102688906 - ADI1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250685 chr16 84192558 84197053 - AC009123.1 antisense 654780 0 0 0 3 2 0 0 0 1 ENSG00000250686 chr6 61630233 61681049 - KHDRBS2-OT 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000250687 chr5 70462244 70479215 + AC146944.2 transcribed_unprocessed_pseudogene 10 30 37 9 30 34 11 11 41 ENSG00000250688 chr14 22481697 22481753 + TRAJ55 TR_J_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250692 chr5 139848290 139856389 + AC008667.2 antisense 0 0 0 2 0 0 0 0 0 ENSG00000250693 chr4 115628812 115629707 + RPF2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250694 chr5 24352309 24353443 - AC010387.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250696 chr4 69182100 69216766 + AC111000.4 antisense 73 88 164 5 10 7 1 8 1 ENSG00000250697 chr5 32925639 33297910 - AC010343.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250698 chr4 140128015 140134565 + AC131182.1 antisense 5 5 1 0 1 1 4 2 4 ENSG00000250699 chr11 117316362 117328038 - AP000892.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000250703 chr5 26670334 26670481 - AC113347.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250704 chr4 149956208 149958572 + AC105343.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250705 chr5 88602780 88603117 + AC008526.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250706 chr4 152146385 152178573 - AC079340.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250708 chr4 173897252 173929525 + LINC02269 lincRNA 101928478 0 0 0 0 0 0 0 0 0 ENSG00000250709 chr13 36168794 36297842 - CCDC169-SOHLH2 protein_coding This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]. 100526761 0 0 0 0 0 0 0 0 0 ENSG00000250710 chr4 4156522 4157443 - OR7E99P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250711 chr5 42972624 42973092 + PRELID3BP7 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000250712 chr4 165010459 165011851 + AC106872.9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250714 chr8 23225233 23230915 - AC100861.2 antisense 3 1 11 2 7 1 0 10 4 ENSG00000250715 chr5 17670168 17670571 - AC233724.10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250716 chr5 3496229 3504004 - LINC01017 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250719 chr1 46175486 46176478 - AL672043.1 protein_coding 110117498 GO:0005942, phosphatidylinositol 3-kinase complex, GO:0046935, 1-phosphatidylinositol-3-kinase regulator activity, GO:0046854, GO:0043551, phosphatidylinositol phosphorylation, regulation of phosphatidylinositol 3-kinase activity, 0 0 0 0 0 0 0 0 0 ENSG00000250721 chr5 125265528 125265651 + HMGB1P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250722 chr5 42799880 42887392 - SELENOP protein_coding This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2018]. 6414 GO:0070062, GO:0031089, GO:0005576, GO:0005576, GO:0005576, extracellular exosome, platelet dense granule lumen, extracellular region, extracellular region, extracellular region, GO:0008430, selenium binding, GO:0040008, GO:0019953, GO:0009791, GO:0007626, GO:0007420, GO:0006979, GO:0002576, GO:0001887, regulation of growth, sexual reproduction, post-embryonic development, locomotory behavior, brain development, response to oxidative stress, platelet degranulation, selenium compound metabolic process, 4 8 3 4 4 9 5 7 23 ENSG00000250723 chr4 33850591 33979936 + AC016687.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250725 chr4 165664350 165665671 + AC080079.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250726 chr4 184072403 184073039 + AC107222.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250727 chr8 124141888 124143512 + AC100871.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250728 chr5 111155244 111156152 - AC010468.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250730 chr5 6289857 6290624 + HMGB3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250731 chr19 53479350 53480091 + TPM3P6 processed_pseudogene 3 0 1 2 0 0 1 0 1 ENSG00000250732 chr5 65251127 65251784 - RPEP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250733 chr8 139931172 139933946 + C8orf17 TEC 1 0 1 0 5 0 6 2 2 ENSG00000250734 chr1 151612038 151613363 - AL391335.1 antisense 62 86 77 28 68 40 58 72 39 ENSG00000250735 chr4 75401195 75423023 + AC096759.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250739 chr4 189659605 189661486 + LINC01262 lincRNA 101928971 1 3 0 81 77 101 54 43 87 ENSG00000250740 chr4 105927060 105932722 - AC109361.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250741 chr2 18555545 18589564 - NT5C1B-RDH14 protein_coding This locus represents naturally occurring read-through transcription between the neighboring NT5C1B (5'-nucleotidase, cytosolic IB) and RDH14 (retinol dehydrogenase 14) genes on chromosome 2. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]. 100526794 0 0 0 0 0 0 0 0 0 ENSG00000250742 chr12 54126098 54142493 + LINC02381 lincRNA 400043 1 1 0 0 7 0 3 7 2 ENSG00000250745 chr4 9258124 9260075 + USP17L20 protein_coding 100287441 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000250746 chr4 164188311 164190367 + AC105250.1 processed_pseudogene 0 0 1 1 0 0 1 6 3 ENSG00000250747 chr5 73152416 73152938 - AC116345.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250748 chr12 65466820 65642372 - AC025419.1 lincRNA 105369187 0 0 0 0 0 0 0 0 0 ENSG00000250749 chr5 180534184 180534642 - AC122714.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250750 chr3 98053374 98053739 + OR5BM1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250751 chr17 49708334 49720060 + AC015795.1 antisense 41 35 73 23 23 52 24 30 14 ENSG00000250752 chr8 6898878 6899468 - RPL23AP96 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250753 chr4 49579833 49580189 + AC119751.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250754 chr4 185051896 185107248 + LINC02436 lincRNA 101928877 0 0 0 0 0 0 0 0 0 ENSG00000250756 chr7 32788334 32788442 + AC018645.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250761 chr5 7707802 7749766 - AC093305.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250762 chr1 167819898 167820248 - Z99943.2 unprocessed_pseudogene 2 0 2 2 2 6 14 1 0 ENSG00000250764 chr5 32103445 32121941 - AC025178.1 antisense 5 5 3 9 16 0 8 6 6 ENSG00000250765 chr5 181329241 181342213 + AC138035.2 lincRNA 65 76 3 19 78 15 3 15 40 ENSG00000250767 chr5 33997044 33997724 - AC139783.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000250768 chr4 64430909 64433215 + DPP3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250769 chr4 49507764 49508806 - AC119751.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250770 chr12 3296202 3366122 - AC005865.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250771 chr4 153640168 153681180 + AC106865.1 transcribed_unprocessed_pseudogene 100419170 11 35 23 21 34 11 5 20 12 ENSG00000250772 chr4 119799089 119804515 - LINC01365 lincRNA 101927007 0 0 0 0 0 0 0 0 0 ENSG00000250775 chr4 63468701 63494278 - AC093730.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250777 chr4 137690477 137734977 - AC131956.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250778 chr7 76521611 76522074 + AC004980.4 unprocessed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000250781 chr4 42281830 42391268 - AC024022.1 antisense 105374428 0 0 0 0 0 0 0 0 0 ENSG00000250782 chr5 17634460 17635053 + TAF11L14 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000250786 chr5 9546200 9550609 + SNHG18 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250787 chr5 56381781 56382075 + HMGN1P17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250788 chr12 34164773 34166954 - TUBB8P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250790 chr12 132911470 132914732 + AC127070.2 lincRNA 0 1 2 0 0 0 2 0 0 ENSG00000250791 chr4 116489364 116515146 - AC106892.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250794 chr8 12421032 12425000 + ALG1L12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000250796 chr3 128869624 128870026 + AC112484.2 processed_pseudogene 6 2 6 4 12 2 4 13 8 ENSG00000250799 chr19 35799988 35813299 - PRODH2 protein_coding The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]. 58510 GO:0005743, GO:0005739, mitochondrial inner membrane, mitochondrion, GO:0071949, GO:0016645, GO:0004657, GO:0004657, FAD binding, oxidoreductase activity, acting on the CH-NH group of donors, proline dehydrogenase activity, proline dehydrogenase activity, GO:0055114, GO:0046487, GO:0010133, GO:0006562, oxidation-reduction process, glyoxylate metabolic process, proline catabolic process to glutamate, proline catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000250801 chr5 175972611 175985856 + AC138965.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250802 chr5 77086688 77166909 + ZBED3-AS1 antisense 0 1 1 1 3 0 0 1 0 ENSG00000250803 chr5 122129622 122183949 + AC010255.3 protein_coding 100505841 0 0 0 0 0 0 0 0 0 ENSG00000250804 chr4 8981436 8982360 + AC073648.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250806 chr5 100654112 100657970 - AC027315.1 lincRNA 0 1 0 0 3 0 0 0 0 ENSG00000250808 chr5 5395972 5396335 - MTCO2P30 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000250812 chr4 55219344 55219973 + AC021220.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250813 chr4 137301001 137301187 - SERF1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250814 chr5 9854377 9889937 + LINC02221 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250815 chr4 53927499 53928138 - AC105384.2 processed_pseudogene 0 1 0 6 4 3 7 6 0 ENSG00000250816 chr5 17202274 17203145 + DCAF13P2 processed_pseudogene 2 0 0 1 0 0 0 0 4 ENSG00000250819 chr4 17171757 17186059 - LINC02493 lincRNA 101929123 0 0 0 0 0 0 0 0 0 ENSG00000250820 chr5 175906939 175958538 - AC138965.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000250821 chr4 55819819 55837487 + EXOC1L protein_coding 644145 GO:0005886, GO:0000145, plasma membrane, exocyst, GO:0031267, GO:0005546, small GTPase binding, phosphatidylinositol-4,5-bisphosphate binding, GO:0051601, GO:0006893, GO:0006887, exocyst localization, Golgi to plasma membrane transport, exocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000250822 chr5 17378906 17387310 - LINC02111 lincRNA 401177 0 0 0 2 0 0 0 0 0 ENSG00000250825 chr15 96441566 96442313 - PGAM1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250826 chr4 82128535 82129656 + HNRNPA3P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250827 chr5 52579555 52581106 - MFSD4BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250828 chr4 69437357 69441050 + AC108078.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250829 chr4 186890969 186892366 + AC108865.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250830 chr5 98402542 98402732 - MRPS35P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250831 chr5 89466537 89470039 - AC074131.1 lincRNA 18 31 25 10 10 16 6 21 9 ENSG00000250833 chr10 30353706 30357365 + DNM1P17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250834 chr4 135371177 135371924 - KRT18P54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250835 chr4 142317238 142317546 + LSM3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250838 chr17 48995266 48997492 - AC091133.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250839 chr4 179069437 179069594 + AC018710.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250842 chr5 145337932 145381670 - AC137770.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250844 chr4 9248630 9250581 + USP17L18 protein_coding 100287364 GO:0005829, GO:0005783, GO:0005634, cytosol, endoplasmic reticulum, nucleus, GO:0004843, GO:0004197, thiol-dependent ubiquitin-specific protease activity, cysteine-type endopeptidase activity, GO:0042981, GO:0016579, GO:0006511, regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000250846 chr4 65669961 65698029 + EPHA5-AS1 lincRNA 100144602 0 0 0 0 0 0 0 0 0 ENSG00000250847 chr5 121195980 121196210 - AC010350.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250848 chr5 288833 290321 - AC021087.1 processed_pseudogene 13 18 13 16 21 21 15 9 19 ENSG00000250850 chr9 37002697 37008040 + AL161781.2 antisense 0 1 1 2 1 0 0 1 2 ENSG00000250853 chr5 55530156 55530701 - RNF138P1 processed_pseudogene 0 1 1 4 1 1 0 0 0 ENSG00000250855 chr4 111802801 111839886 + AC139718.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250857 chr8 46792065 46793064 + TRIM60P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250858 chr4 27585145 27586144 + IGBP1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250859 chr5 127511464 127512842 - HNRNPKP1 processed_pseudogene 1 0 1 0 0 1 0 0 0 ENSG00000250860 chr5 42466893 42468300 - AC093225.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250862 chr5 124220579 124221077 - HMGB1P29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250863 chr4 43980006 43981620 - AC110799.1 lincRNA 105374438 0 0 0 0 0 0 0 0 0 ENSG00000250865 chr4 135792384 135805904 - AC105362.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250866 chr5 5142138 5176214 - AC022424.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250868 chrY 17768980 17777400 - XKRY transcribed_unprocessed_pseudogene This probable pseudogene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It is similar to the XK (X-linked Kell blood group precursor) gene, which encodes a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Nov 2020]. 9082 GO:0016021, integral component of membrane, GO:0007338, single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000250869 chr8 67133554 67135911 - AC087359.1 unprocessed_pseudogene 0 0 3 0 0 0 0 0 0 ENSG00000250874 chr5 85663232 85664684 + AC010595.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250877 chr4 72323028 72330751 + AC095056.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250878 chr13 102880099 102896033 + METTL21EP transcribed_unprocessed_pseudogene 121952 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0016279, protein-lysine N-methyltransferase activity, GO:0018023, GO:0018022, peptidyl-lysine trimethylation, peptidyl-lysine methylation, 0 0 1 0 0 4 3 0 0 ENSG00000250882 chr5 112173570 112175548 + AC010261.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250884 chr4 9483718 9484702 + OR7E85P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250885 chr5 32646564 32651976 - LINC02061 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250886 chr5 35081223 35081992 + AC010368.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250887 chr4 165007086 165007959 - AC106872.10 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250888 chr5 79936579 79967626 + LINC01455 antisense 105616916 0 0 0 0 0 0 0 0 0 ENSG00000250889 chr5 75047719 75052843 - LINC01336 lincRNA 3 1 1 2 1 0 1 2 0 ENSG00000250890 chr1 93926032 93926188 - AL117351.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250891 chr5 118468156 118562117 - LINC02208 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250892 chr4 201409 205009 - AC108475.1 unprocessed_pseudogene 1 0 3 0 1 0 4 1 0 ENSG00000250893 chr4 40426119 40427585 + AC098869.2 antisense 237 225 339 114 223 135 165 112 141 ENSG00000250894 chr1 13245863 13248652 + PRAMEF31P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250895 chr5 119652523 119653000 - AC010409.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250896 chr4 11371975 11372892 + RNPS1P1 processed_pseudogene 2 3 2 2 0 1 1 1 1 ENSG00000250897 chr4 94195940 94196513 - HMGB3P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250899 chr12 3041437 3044950 + AC125807.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250900 chr5 181195496 181203103 + AC008443.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250902 chr4 145514615 145517118 - SMAD1-AS1 antisense 0 1 0 0 0 0 1 0 0 ENSG00000250903 chr6 2245748 2482022 + GMDS-DT lincRNA 18 25 19 33 26 28 30 26 36 ENSG00000250905 chr4 149666057 149711149 + AC093893.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250906 chr4 40812779 40826151 + AC131953.1 antisense 0 3 4 0 1 2 0 2 0 ENSG00000250908 chr4 93318623 93319786 - AC110800.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250909 chr5 176347941 176353584 + AC138956.1 antisense 10 11 22 39 13 43 24 9 11 ENSG00000250910 chr4 155173716 155381694 + AC097467.3 antisense 102724776 8 0 4 5 0 5 2 0 3 ENSG00000250913 chr4 9272364 9272914 + USP17L23 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000250914 chr5 33970863 33972628 + AC139783.2 processed_pseudogene 0 2 0 0 3 0 0 0 0 ENSG00000250915 chr4 8745397 8746033 - AC209005.1 lincRNA 101928532 0 0 0 0 0 0 0 0 0 ENSG00000250917 chr20 34234840 34281173 - AL035458.2 sense_overlapping 0 2 0 0 0 0 0 0 0 ENSG00000250919 chr4 69027831 69044578 + UGT2B26P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250920 chr4 103550927 103559127 - AC105460.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250921 chr5 4135682 4143648 + LINC02063 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250922 chr4 105532475 105532630 + ATP5F1EP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250923 chr7 57773183 57773381 + AC023141.12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250927 chr4 28823244 28824211 - MESTP3 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000250928 chr5 119011471 119012056 + AC008629.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250929 chr8 103121032 103132966 + LINC01181 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250930 chr4 53496400 53549578 + LNX1-AS1 antisense 100873939 0 0 0 0 0 0 0 0 0 ENSG00000250933 chr18 3977649 3978615 - GAPDHP66 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250934 chr3 126266796 126291279 + AC016924.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250938 chr4 120066958 120416766 + AC108866.1 antisense 0 2 0 0 3 1 2 1 0 ENSG00000250939 chr3 12850659 12850860 + AC034198.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250940 chr4 4086638 4086814 + AC116562.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250942 chr4 9677308 9677934 + ENPP7P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250945 chr4 127043430 127077762 - AC096773.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250946 chr11 89820082 89826922 + AP004833.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250947 chr5 136303757 136316100 + TRPC7-AS2 antisense 106478968 0 0 0 0 0 0 0 0 0 ENSG00000250948 chr17 49375380 49380094 + AC091180.4 antisense 1 0 2 5 0 4 14 3 2 ENSG00000250949 chr5 117031200 117038569 + AC093534.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250950 chr4 119456350 119457277 + AC093752.2 lincRNA 1 4 2 0 6 2 0 2 5 ENSG00000250951 chrY 18540980 18544128 + USP9YP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250954 chr4 33776347 34039893 - AC016687.3 lincRNA 101928622 0 0 0 0 0 0 0 0 0 ENSG00000250955 chr5 95964999 95986311 - AC008592.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250956 chr5 127179756 127179900 - AC011416.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250957 chr4 174135055 174154637 - AC012055.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250958 chr5 102581368 102617589 + LINC00492 lincRNA 100861468 0 0 0 0 0 0 0 0 0 ENSG00000250959 chr10 73730562 73737311 + GLUD1P3 transcribed_unprocessed_pseudogene 2749 6 5 16 13 6 11 13 14 2 ENSG00000250961 chr5 57395060 57533424 + AC025470.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250962 chr8 88485110 88486094 + AC090568.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250966 chr4 112564988 112565398 + AC023886.2 processed_pseudogene 1 0 2 1 1 1 0 1 0 ENSG00000250968 chr4 170742469 170743718 - LINC02382 lincRNA 100506107 0 0 0 0 0 0 0 0 0 ENSG00000250969 chr4 143286293 143329858 + AC097658.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250971 chr4 187060099 187060930 + AC108474.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250972 chr5 144439206 144439478 + CKS1BP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250973 chr21 30356515 30356885 - KRTAP13-6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250974 chr5 6839460 7214054 + LINC02196 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250976 chr17 50563203 50563783 - AC021491.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250977 chr4 138664725 138665569 - AC098859.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250978 chr5 67463809 67475592 - AC079467.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000250979 chr8 72202751 72251565 - AC022905.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250980 chr4 152796063 152796831 - AC113155.1 processed_pseudogene 1 2 3 0 1 3 0 0 0 ENSG00000250981 chr5 16129178 16141602 + AC016650.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000250982 chr16 28239693 28240668 - GAPDHP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250983 chr3 133546071 133546272 - AC022296.2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000250984 chr5 29795938 29796268 + AC108082.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250986 chr4 3758748 3763390 - LINC02600 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250988 chr15 82750564 82757206 + SNHG21 antisense 100505616 2 0 3 0 0 1 0 0 0 ENSG00000250989 chr9 38543104 38543446 - AL390726.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250990 chr7 77246340 77258123 - AC098851.1 antisense 0 1 5 0 1 4 2 2 3 ENSG00000250992 chr5 176040744 176042878 + AC139491.3 antisense 0 0 0 0 0 0 2 0 0 ENSG00000250993 chr4 179389134 179465305 - AC020551.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000250994 chr5 134436711 134492519 + AC005355.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000250995 chrX 118769796 118770857 + AL391280.1 processed_pseudogene 23 24 30 40 59 33 40 36 67 ENSG00000250997 chr4 160521829 160522311 - AC093853.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000250999 chr5 179657762 179664432 + AC136604.3 antisense 0 1 0 0 0 0 0 0 0 ENSG00000251000 chr5 95834424 95835046 - AC008592.3 processed_pseudogene 22 7 25 0 7 3 3 4 2 ENSG00000251001 chr5 80997183 80998047 - AC026427.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251002 chr14 22380680 22482959 - AC244502.1 processed_transcript 105370401 49 37 61 92 79 106 59 44 72 ENSG00000251003 chr8 105546089 106060524 - ZFPM2-AS1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000251005 chr4 126106139 126106923 - AC105758.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251008 chr4 186170863 186171257 - ORAOV1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251009 chr4 25864881 25869550 - AC133961.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251010 chr4 146241806 146243669 + AC097372.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251011 chr3 133246106 133257188 - TMEM108-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251012 chr3 119147375 119187807 + AC083800.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000251013 chr8 100550724 100551713 - GAPDHP62 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000251014 chr5 112546973 112547505 + AC137549.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251015 chr13 45418162 45420371 + SLC25A30-AS1 lincRNA 100874259 5 0 0 7 0 8 6 0 1 ENSG00000251017 chr4 74085995 74086672 - AC093677.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000251018 chr5 163483065 163494058 - HMMR-AS1 antisense 2 2 1 3 0 0 0 0 0 ENSG00000251019 chr4 78648954 78649242 - HIGD1AP13 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000251022 chr4 82893009 82900960 - THAP9-AS1 antisense 2656 4375 3174 9547 11929 13778 11439 9836 11643 ENSG00000251023 chr5 93860669 93863825 - AC114980.1 sense_intronic 22 30 18 9 16 12 15 11 17 ENSG00000251024 chr4 146077846 146108157 - AC097372.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251025 chr4 180573464 180574027 - NDUFB5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251026 chr5 104079911 104105403 + LINC02163 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251027 chr5 106815197 107011014 - LINC01950 lincRNA 102467213 0 0 0 0 0 0 0 0 0 ENSG00000251031 chr5 145222610 145228982 - AC132803.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251032 chr5 127784618 127787042 - CUL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251033 chr5 26711551 26749997 - AC113347.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251034 chr8 22540845 22545405 - AC037459.2 antisense 5 6 11 26 7 25 30 5 15 ENSG00000251035 chr5 181378695 181379038 - WBP1LP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251038 chr3 11909634 11910765 - AC090958.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251039 chr2 89851791 89852497 + IGKV2D-40 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000251040 chr4 52044805 52046954 + LINC02480 lincRNA 105377652 0 0 0 0 0 0 0 0 0 ENSG00000251041 chr5 74321631 74340152 + AC106732.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251044 chr5 68374765 68375292 + AC024579.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251045 chr5 135648584 135653935 - LINC01959 lincRNA 340074 0 0 0 0 0 0 0 0 0 ENSG00000251046 chr4 110415898 110418504 + ZNF969P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251048 chr4 18488062 18489508 - AC093871.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251049 chr4 57595940 57605872 - AC107396.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251050 chr5 80019609 80019920 + AC112184.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251051 chr4 132367786 132368479 - ELL2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251054 chr5 97223371 97227957 - AC008883.2 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000251055 chr4 63128311 63143881 + AC097491.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251056 chr4 49502145 49506022 - ANKRD20A17P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251058 chr3 140461000 140462825 - AC010181.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251059 chr4 81164940 81193395 + AC139722.1 antisense 101928942 0 0 0 0 0 0 0 0 0 ENSG00000251061 chr4 170343089 170372311 + LINC02512 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251062 chr5 32887990 32888145 - AC025459.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251066 chr5 85549409 85549952 + AC026700.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251072 chr5 126751963 126776486 - LMNB1-DT lincRNA 102723557 0 0 0 0 0 0 0 0 0 ENSG00000251073 chr4 158182825 158183393 + NUDT19P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251074 chr4 68626847 68628899 - AC147055.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251075 chr4 3063471 3074514 - HTT-AS antisense 0 0 1 0 1 0 0 0 0 ENSG00000251076 chr5 112228283 112257309 + AC104126.1 antisense 101927023 0 0 0 0 0 0 0 0 0 ENSG00000251078 chr5 75752570 75753479 - SLC25A5P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251079 chr10 47538377 47551954 - BMS1P2 transcribed_unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000251080 chr4 27133996 27140051 - AC024132.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251081 chr4 107258700 107301870 + AC104663.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251087 chr4 9703754 9710812 - ALG1L3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251088 chr3 98233651 98457898 + AC117473.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251090 chr3 98100793 98105672 + OR5AC4P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251093 chr5 91226475 91227071 - AC093281.2 lincRNA 34 40 22 42 69 32 52 50 26 ENSG00000251095 chr4 89551356 89726752 + AC097478.1 antisense 2 0 5 1 0 0 1 0 0 ENSG00000251099 chr5 111572236 111572398 + AC008967.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251101 chr4 68615393 68616137 - AC147055.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251102 chr5 98576341 98577260 + CTBP2P4 processed_pseudogene 5 3 11 3 10 4 7 4 3 ENSG00000251105 chr4 54076625 54076848 + AC110792.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251106 chr13 46270077 46270617 + FAM206BP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251107 chr5 76280956 76281267 + PDCD5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251108 chr5 72417489 72418335 + YBX1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251111 chr4 55351812 55352408 - FCF1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251112 chr5 12794100 12794731 - AC106794.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251113 chr4 29465701 29467850 - AC092593.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251118 chr5 115770586 115770989 + AC008549.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251122 chr5 174923090 174923945 + NIFKP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251123 chr4 162984795 162985416 + AC084752.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251125 chr5 51451158 51462089 + AC091860.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251126 chr4 112880298 112882330 - AC017007.5 antisense 0 0 0 2 0 0 0 0 0 ENSG00000251127 chr8 61759094 61765969 - AC091173.1 lincRNA 35 43 15 296 349 423 386 324 333 ENSG00000251128 chr4 183233628 183240634 - WWC2-AS1 antisense 101928734 0 0 0 0 0 0 0 0 0 ENSG00000251129 chr4 31997397 32155406 + LINC02506 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000251131 chr5 43018429 43024247 + AC025171.3 antisense 7 3 16 4 5 13 7 1 5 ENSG00000251132 chr5 115031273 115031894 - AC094104.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251135 chr5 121040090 121044032 + AC008565.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251136 chr8 89609409 89757727 - AF117829.1 lincRNA 101929709 107 68 84 102 78 103 109 47 73 ENSG00000251137 chr3 139081654 139082377 - RPL7L1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251138 chr12 74133166 74402535 - AC090502.1 lincRNA 100507377 0 0 0 0 0 0 0 0 0 ENSG00000251139 chr4 184813619 184821300 + AC084871.1 antisense 42 61 70 77 157 314 103 95 283 ENSG00000251141 chr5 44744900 44808777 - MRPS30-DT antisense 0 0 0 0 0 0 0 1 0 ENSG00000251142 chr8 57240057 57240541 + AC025674.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251143 chr11 72014291 72020910 + AP002490.1 antisense 100128494 428 525 552 378 315 438 312 258 284 ENSG00000251144 chr5 174820027 174826324 + AC113346.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251147 chr4 184910889 184911352 - AC084871.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251148 chr4 2295584 2319089 + AL158068.2 antisense 0 0 0 0 0 2 0 0 2 ENSG00000251149 chr4 101972423 101972798 + MTND5P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251151 chr12 53981509 53985519 - HOXC-AS3 processed_transcript 100874365 0 0 0 0 0 0 0 0 0 ENSG00000251152 chr4 11469250 11478196 + AC025539.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251154 chr7 90469787 90488964 + AC002456.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251155 chr4 118640673 118640858 + SEPT14P4 processed_pseudogene 2 5 12 0 12 1 2 3 1 ENSG00000251158 chr5 69898867 69903198 - AC131392.2 unprocessed_pseudogene 5 11 6 3 7 2 5 5 4 ENSG00000251159 chr4 44533615 44533880 + AC093852.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251161 chr15 40906811 40910337 + AC020661.1 lincRNA 17 21 9 1020 849 1445 1039 580 964 ENSG00000251162 chr4 164597719 164597976 + AC074198.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251163 chr5 42897262 42897832 - PRELID3BP4 processed_pseudogene 0 0 0 2 0 0 0 0 2 ENSG00000251165 chr4 186286094 186500997 - F11-AS1 antisense 285441 0 0 0 0 0 0 0 0 0 ENSG00000251166 chr4 3889356 3890249 - OR7E163P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251168 chr5 7924292 7925398 + AC025174.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251169 chr5 134506552 134509229 + LINC01843 lincRNA 101927934 0 0 0 0 0 0 0 0 0 ENSG00000251170 chr4 104230380 104411035 + AC004052.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251171 chr4 169201794 169220349 + AC096741.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251172 chr3 97481177 97481506 - AC117470.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251173 chr4 41220074 41256727 - UCHL1-AS1 antisense 101410542 0 0 0 0 0 0 0 0 0 ENSG00000251174 chr4 175494614 175496000 + TSEN2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251175 chr4 105746245 105827172 - AC008243.1 antisense 101929529 0 0 0 0 1 0 0 0 0 ENSG00000251176 chr4 171553000 171564267 - AC074254.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251177 chr4 69572391 69585527 - AC093829.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251178 chr3 130034553 130035539 - OR7E21P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251179 chr17 50281577 50287855 - TMEM92-AS1 antisense 103752589 50 39 104 54 41 117 75 53 105 ENSG00000251182 chr4 31171144 31211675 + LINC02497 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251183 chr5 153887428 153898987 - LINC01861 lincRNA 105378238 0 0 0 0 0 0 0 0 0 ENSG00000251184 chr9 128941478 128957021 + AL672142.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000251185 chr4 75269068 75361182 - AC025244.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251186 chr4 8453410 8454942 - AC105345.2 antisense 10 0 5 0 0 0 3 2 0 ENSG00000251187 chr5 112192020 112210139 + AC010261.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251188 chr4 268982 269531 - AC079140.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251189 chr5 38682070 38685126 + AC010425.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251191 chr8 29673922 29748109 - LINC00589 lincRNA 619351 0 0 0 0 0 0 0 0 0 ENSG00000251192 chrX 46497727 46545457 - ZNF674 protein_coding This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disabilities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]. 641339 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 226 179 259 209 218 167 233 153 182 ENSG00000251193 chr5 97737894 97738913 + AC112203.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251194 chr11 35212550 35214007 + AL133330.1 sense_intronic 13 13 30 14 9 18 23 9 20 ENSG00000251195 chr4 129177386 129179094 + AC105417.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251196 chr5 10652211 10655925 - AC106760.1 unprocessed_pseudogene 9 11 48 12 5 8 8 7 14 ENSG00000251199 chr4 134255173 134327473 - AC109830.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251200 chr4 169945981 169963334 + AC084866.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251201 chr5 115578642 115626161 - TMED7-TICAM2 protein_coding This locus represents naturally occurring read-through transcription between the neighboring transmembrane emp24 protein transport domain containing 7 (TMED7) and toll-like receptor adaptor molecule 2 (TICAM2) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. This fusion product functions to negatively regulate the adaptor MyD88-independent toll-like receptor 4 pathway. [provided by RefSeq, Nov 2010]. 100302736 0 0 0 0 2 0 0 3 2 ENSG00000251203 chr8 26433029 26434065 - AC011726.1 processed_pseudogene 0 3 0 0 2 0 2 1 0 ENSG00000251204 chr5 106415576 106417241 - AC027313.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251205 chr5 143559219 143562548 + AC016598.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251206 chr5 67268022 67270182 + AC010420.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251209 chr15 97572185 97874550 - LINC00923 lincRNA 91948 0 0 0 2 0 0 0 0 0 ENSG00000251210 chr4 12223451 12251286 + LINC02270 lincRNA 101929019 0 0 0 0 0 0 0 0 0 ENSG00000251211 chr5 178165702 178166562 + AC136632.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000251212 chr4 17061878 17062165 + MTND5P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251213 chr4 174164441 174168913 - AC012055.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251214 chr5 124459912 124460549 - AC025465.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251215 chr5 39169210 39170335 - GOLGA5P1 processed_pseudogene 21 31 35 25 42 58 47 30 36 ENSG00000251216 chr4 173924207 173990861 - AC106895.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251218 chr8 134849935 134881899 + AC103764.1 lincRNA 101927845 0 0 0 0 0 0 0 0 0 ENSG00000251219 chr4 100778582 100791235 - LINC01217 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000251220 chr4 23514940 23515284 - RFPL4AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251221 chr5 80608623 80622524 - LINC01337 lincRNA 103689917 1 0 0 0 1 0 0 0 0 ENSG00000251223 chr4 155459704 155461237 - MTCO1P9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251224 chr3 32730635 32737454 - CNOT10-AS1 antisense 19 23 33 16 17 19 9 19 23 ENSG00000251226 chr11 134735596 134763810 + AP001999.1 lincRNA 729305 0 0 0 0 0 0 0 0 0 ENSG00000251228 chr4 134944275 134944523 + AC104619.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251229 chr4 2505081 2506279 - AL645924.2 processed_pseudogene 5 4 4 12 2 1 5 2 9 ENSG00000251230 chr4 184844585 184855751 - MIR3945HG lincRNA 116 94 264 16 64 113 60 33 60 ENSG00000251234 chr8 93939364 93942877 - PSMA2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251235 chr5 76376675 76377149 + SNRPCP2 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000251236 chr4 68813995 68814727 + AC021146.8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251237 chr5 52889666 52889954 + B3GNTL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251239 chr17 50627032 50631940 - AC004590.1 antisense 101927253 0 0 0 0 0 0 0 0 0 ENSG00000251243 chr5 133720495 133720934 - AC005178.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251244 chr4 155515727 155517459 + AC107208.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251246 chr1 155063748 155086807 + AL691442.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000251247 chr19 36850361 36913029 + ZNF345 protein_coding 25850 GO:0005634, nucleus, GO:1990837, GO:0046872, GO:0005515, GO:0001228, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006383, GO:0006366, GO:0006359, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, transcription by RNA polymerase III, transcription by RNA polymerase II, regulation of transcription by RNA polymerase III, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 14 16 27 23 11 44 22 12 10 ENSG00000251248 chr4 142514446 142518983 + AC139720.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251249 chr4 151955991 151969381 + AC097375.3 processed_transcript 100505685 0 0 0 0 0 0 0 0 0 ENSG00000251250 chr5 7289891 7326609 + AC091951.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251252 chr4 14505865 14506480 - MTND2P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251253 chr4 162322188 162323907 + MTHFD2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251254 chr4 147506091 147506765 + GTF2F2P1 processed_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000251256 chr4 54845568 54859241 + LINC02358 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251257 chr5 38460925 38468339 - AC010457.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251258 chr6 112347330 112351296 + RFPL4B protein_coding 442247 GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000251259 chr4 105137280 105140619 - AC004069.1 lincRNA 86 64 114 93 84 99 84 67 60 ENSG00000251260 chr4 84803258 84810391 + WDFY3-AS1 antisense 265 255 366 82 125 99 91 77 73 ENSG00000251261 chr5 101816475 101816780 - OR7H2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251264 chr4 54440502 54446723 - AC098868.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251266 chr4 58984282 59046959 + LINC02429 lincRNA 105377247 0 0 0 0 0 0 0 0 0 ENSG00000251270 chr3 141115124 141124182 - AC108727.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251271 chr4 3935447 3942519 + ALG1L7P unprocessed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000251273 chr5 25087450 25190956 - LINC02228 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251276 chr7 78939850 78940895 + MAGI2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251278 chr4 10292195 10292708 - AC006499.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251279 chr5 61162070 61232040 + SMIM15-AS1 antisense 8 7 23 7 9 5 3 2 5 ENSG00000251281 chr5 33011322 33017607 - AC034223.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251283 chr4 156634494 156642454 - LINC02272 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251284 chr4 69125274 69126451 + AC111000.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251285 chr4 88220569 88223837 - AC097484.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251286 chr4 52440494 52441535 - AC097522.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251287 chr3 130081831 130113227 + ALG1L2 protein_coding 644974 GO:0005783, endoplasmic reticulum, GO:0000030, mannosyltransferase activity, GO:0097502, GO:0006486, mannosylation, protein glycosylation, 1 0 1 3 3 2 3 0 7 ENSG00000251288 chr4 102751401 102752641 + AC018797.3 processed_pseudogene 19 9 7 2 6 5 11 11 15 ENSG00000251291 chr4 134423867 134457852 + LINC02462 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251292 chr4 23723262 23733579 - ERVH-1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251293 chr5 120245448 120333502 - AC008574.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251294 chr5 24554018 24613222 + AC091885.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251296 chr4 10167159 10167765 - AC006499.6 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000251297 chr4 189982523 189984871 - TUBB7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251298 chr4 147609552 147617245 - AC093835.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251299 chr13 24943575 24944498 + SLC25A15P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251300 chr4 143045086 143045878 + AC104596.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251301 chr12 68332888 68451663 - LINC02384 lincRNA 4 3 2 12 9 8 6 6 0 ENSG00000251303 chr5 60630514 60630973 + CAB39P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251306 chr5 59528861 59529251 + NDUFB4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251307 chr5 55233934 55295201 + AC026704.1 antisense 3 9 3 0 5 5 4 4 2 ENSG00000251308 chr4 115142982 115143303 + MRPS33P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251309 chr4 101976894 102036903 - AP002075.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251310 chr4 189193100 189204877 + AC107391.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251311 chr5 116742991 116762209 - LINC02214 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251312 chr4 111063583 111064227 + AC004062.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251313 chr4 9030286 9031066 + AC073648.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251314 chr5 95962001 96631085 + AC104123.1 antisense 101929710 0 1 0 0 0 0 0 0 0 ENSG00000251320 chr5 147887112 147887704 + AC011352.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251321 chr4 79827471 79877770 + PCAT4 lincRNA 118425 0 0 0 0 0 0 0 1 0 ENSG00000251322 chr22 50674415 50733298 + SHANK3 protein_coding This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]. 85358 GO:0060170, GO:0045211, GO:0044309, GO:0043197, GO:0043005, GO:0031234, GO:0014069, GO:0014069, GO:0008328, GO:0005829, ciliary membrane, postsynaptic membrane, neuron spine, dendritic spine, neuron projection, extrinsic component of cytoplasmic side of plasma membrane, postsynaptic density, postsynaptic density, ionotropic glutamate receptor complex, cytosol, GO:0097110, GO:0043621, GO:0035255, GO:0035255, GO:0030160, GO:0030160, GO:0017124, GO:0008270, GO:0008022, GO:0005515, GO:0003779, scaffold protein binding, protein self-association, ionotropic glutamate receptor binding, ionotropic glutamate receptor binding, synaptic receptor adaptor activity, synaptic receptor adaptor activity, SH3 domain binding, zinc ion binding, protein C-terminus binding, protein binding, actin binding, GO:2000969, GO:2000463, GO:2000463, GO:2000311, GO:1900452, GO:1900451, GO:1900273, GO:1900271, GO:0097117, GO:0097114, GO:0097113, GO:0097107, GO:0097107, GO:0071625, GO:0071625, GO:0061001, GO:0060999, GO:0060999, GO:0060997, GO:0060997, GO:0060291, GO:0051968, GO:0051968, GO:0051835, GO:0051124, GO:0048854, GO:0048854, GO:0048170, GO:0045794, GO:0042297, GO:0035176, GO:0035176, GO:0032232, GO:0030534, GO:0021773, GO:0007613, GO:0007612, GO:0007612, GO:0007610, GO:0007416, GO:0007411, GO:0000165, positive regulation of AMPA receptor activity, positive regulation of excitatory postsynaptic potential, positive regulation of excitatory postsynaptic potential, regulation of AMPA receptor activity, regulation of long-term synaptic depression, positive regulation of glutamate receptor signaling pathway, positive regulation of long-term synaptic potentiation, regulation of long-term synaptic potentiation, guanylate kinase-associated protein clustering, NMDA glutamate receptor clustering, AMPA glutamate receptor clustering, postsynaptic density assembly, postsynaptic density assembly, vocalization behavior, vocalization behavior, regulation of dendritic spine morphogenesis, positive regulation of dendritic spine development, positive regulation of dendritic spine development, dendritic spine morphogenesis, dendritic spine morphogenesis, long-term synaptic potentiation, positive regulation of synaptic transmission, glutamatergic, positive regulation of synaptic transmission, glutamatergic, positive regulation of synapse structural plasticity, synaptic growth at neuromuscular junction, brain morphogenesis, brain morphogenesis, positive regulation of long-term neuronal synaptic plasticity, negative regulation of cell volume, vocal learning, social behavior, social behavior, negative regulation of actin filament bundle assembly, adult behavior, striatal medium spiny neuron differentiation, memory, learning, learning, behavior, synapse assembly, axon guidance, MAPK cascade, 0 0 0 0 1 0 0 0 4 ENSG00000251323 chr11 78423982 78429836 - AP003086.1 lincRNA 101928865 7 15 9 27 28 48 36 21 37 ENSG00000251324 chr5 73454187 73472896 - LINC01386 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251325 chr4 27262506 27267254 - AC024132.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251326 chr4 130376229 130386371 + LINC02479 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251329 chr4 32351038 32353220 + LINC02353 lincRNA 101927363 0 0 0 0 0 0 0 0 0 ENSG00000251330 chr5 148430159 148430807 - AC114939.1 antisense 15 5 13 1 9 5 2 3 6 ENSG00000251332 chr4 37995494 37996203 - AC021106.2 processed_pseudogene 3 4 8 0 1 5 3 4 9 ENSG00000251333 chr4 145375543 145376253 + RTN3P1 processed_pseudogene 87 89 66 19 35 31 38 54 29 ENSG00000251334 chr4 48936582 48936880 + AC020593.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251336 chr4 181820019 181829973 - TEMN3-AS1 lincRNA 105377573 0 0 0 0 0 0 0 0 0 ENSG00000251338 chr4 10294463 10295579 - AC006499.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251339 chr4 58780626 58984152 - AC017091.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251340 chr5 94569540 94570676 + MTCYBP35 processed_pseudogene 0 1 0 0 0 0 0 0 6 ENSG00000251342 chr5 76078666 76079763 + AC026774.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251345 chr4 129133106 129134098 + AC093826.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251347 chr8 92972575 92974738 + IRF5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251348 chr5 95768999 95770700 + HSPD1P11 processed_pseudogene 0 0 3 0 0 0 0 1 4 ENSG00000251349 chr9 100442271 100577636 + MSANTD3-TMEFF1 protein_coding This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2013]. 100526694 0 0 0 0 0 0 0 0 0 ENSG00000251350 chr4 44016861 44022063 + LINC02475 lincRNA 100506827 0 0 0 0 0 0 0 0 0 ENSG00000251352 chr5 180671892 180672598 - AC122714.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251353 chr4 25720099 25720431 - MTND3P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251354 chr8 47546804 47547926 - AC024451.1 unprocessed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000251356 chr5 91476382 91477018 + RAB5CP2 processed_pseudogene 2 0 0 0 0 2 0 0 0 ENSG00000251357 chr22 23862188 23895223 + AP000350.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000251359 chr4 183097017 183099199 - WWC2-AS2 lincRNA 152641 0 1 0 0 0 1 0 0 0 ENSG00000251360 chr6 73209083 73210080 - KHDC1P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251361 chr5 93019663 93068669 - AC012625.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251363 chr14 40954898 40975877 + LINC02315 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251364 chr11 7427266 7512515 - AC107884.1 antisense 100506258 20 16 50 15 28 38 25 18 24 ENSG00000251365 chr5 6765891 6833120 + AC122710.2 lincRNA 109729133 0 0 0 0 0 4 2 0 0 ENSG00000251366 chr5 80603383 80603644 - DBIP2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000251367 chr5 109467353 109467952 + AC091917.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251368 chr5 55750206 55750401 - AC016632.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251369 chr19 57535257 57559863 - ZNF550 protein_coding 162972 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 24 8 16 53 20 44 43 16 27 ENSG00000251370 chr5 9511333 9518086 + SEMA5A-AS1 lincRNA 101929338 0 0 0 0 0 0 0 0 0 ENSG00000251371 chr5 4640731 4648254 + AC010634.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251372 chr4 138309711 138424344 + LINC00499 lincRNA 100874047 0 0 0 0 0 0 0 0 0 ENSG00000251373 chr4 29407100 29408012 + AC092593.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251374 chr5 82265157 82265259 - AC010598.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251376 chr5 55054428 55055140 + AC034238.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251377 chr4 152207421 152225870 - AC079340.2 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000251378 chr7 45818582 45819097 + AC096582.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251379 chr4 15358141 15420032 - AC099550.1 antisense 6 5 2 2 4 3 9 6 1 ENSG00000251380 chr5 135444214 135447348 - DCANP1 protein_coding This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq, Jul 2008]. 140947 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:1905748, GO:1905747, GO:1901078, GO:0098583, GO:0097094, GO:0090103, GO:0090102, GO:0071626, GO:0050885, GO:0048839, GO:0048806, GO:0048634, GO:0042472, GO:0035112, GO:0031223, GO:0030432, GO:0021650, GO:0021559, GO:0007356, hard palate morphogenesis, negative regulation of saliva secretion, negative regulation of relaxation of muscle, learned vocalization behavior, craniofacial suture morphogenesis, cochlea morphogenesis, cochlea development, mastication, neuromuscular process controlling balance, inner ear development, genitalia development, regulation of muscle organ development, inner ear morphogenesis, genitalia morphogenesis, auditory behavior, peristalsis, vestibulocochlear nerve formation, trigeminal nerve development, thorax and anterior abdomen determination, 0 0 0 0 0 0 0 0 0 ENSG00000251381 chr11 12961842 12989548 - LINC00958 lincRNA 100506305 0 0 0 10 5 1 11 3 1 ENSG00000251383 chr4 75354076 75362566 + LINC02483 lincRNA 441025 0 0 0 0 0 2 0 0 0 ENSG00000251385 chr4 64607703 64608831 - MTCYBP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251387 chr5 139772528 139775406 - AC008667.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251388 chr4 133871246 134010690 - AC079380.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251389 chr5 97368776 97370421 + YTHDF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251391 chr5 66298468 66322944 + AC113378.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251393 chr14 73462423 73477175 + AC005280.1 processed_transcript 651 639 1073 271 322 421 391 373 361 ENSG00000251395 chr5 83426676 83427030 + FTH1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251396 chr8 60384588 60516795 - LINC01301 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251398 chr4 132591089 132678503 + LINC01256 lincRNA 104355285 0 0 0 0 0 0 0 0 0 ENSG00000251399 chr4 79596542 79597173 + AC092542.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251400 chr5 77290268 77291800 + ALDH7A1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251401 chr4 90682996 90683123 + AC093729.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251402 chr8 12415080 12418090 - FAM90A25P unprocessed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000251405 chr5 157363382 157365501 - AC016571.1 sense_overlapping 4 1 16 2 13 10 11 6 2 ENSG00000251407 chr4 155462873 155463823 - MTND1P22 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251408 chr4 6202328 6206649 + AC113615.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251409 chr5 95835943 95852721 - AC008592.4 lincRNA 2 1 15 1 0 0 0 1 0 ENSG00000251410 chr4 27967723 27985063 - AC007106.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251411 chr4 86913266 86914817 - AC093827.3 processed_pseudogene 1 2 0 0 0 3 3 0 1 ENSG00000251412 chr4 14383123 14409078 - AC006296.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251413 chr10 48624004 48625093 - AC068898.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000251414 chr5 176354206 176356168 + AC138956.2 antisense 0 1 6 3 3 15 4 1 6 ENSG00000251416 chr4 177686673 177691068 - AC103879.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251417 chr16 28802743 28817828 + AC145285.2 lincRNA 1 0 5 2 0 2 4 4 3 ENSG00000251418 chr4 148526493 148527139 - ASS1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251419 chr5 75831255 75832764 - AC108120.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251421 chr5 124395603 124400655 + AC016556.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251423 chr5 13860303 13900749 + AC016576.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251424 chr4 68834213 68834368 - AC021146.9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251426 chr5 5046796 5049497 - AC010451.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251427 chr4 69144734 69147671 + AC111000.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251429 chr4 158270378 158278676 + AC098679.2 transcribed_processed_pseudogene 0 1 0 0 0 0 0 3 0 ENSG00000251430 chr4 64606418 64606613 + MTCO3P27 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251431 chr19 54298105 54298814 - AC245884.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251432 chr4 128292751 128519394 + AC108062.1 lincRNA 100507487 0 0 0 0 1 7 1 0 9 ENSG00000251433 chr4 181905790 181906467 - CCNHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251434 chr4 31350284 31351725 + AC104071.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251435 chr5 56192530 56193633 + C1GALT1P2 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000251436 chr4 125681177 125683668 - NUP58P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251437 chr4 98976800 98977117 - NDUFS5P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251438 chr4 36311190 36392410 - AC104078.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251439 chr17 41186944 41187136 - KRTAP4-17P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251440 chr4 137425426 137425864 - STMN1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251441 chr4 112356135 112359819 + RTEL1P1 processed_pseudogene 86 106 123 78 135 116 111 104 106 ENSG00000251442 chr4 78645903 78682699 + LINC01094 lincRNA 26 83 74 20 37 5 15 21 38 ENSG00000251443 chr5 33229735 33255553 + LINC02160 lincRNA 105374716 0 0 0 0 0 0 0 0 0 ENSG00000251445 chr4 169010430 169010939 + AC021151.1 antisense 0 0 0 0 0 3 0 5 1 ENSG00000251446 chr5 176726942 176739458 - AC113391.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251447 chr3 131537571 131537685 - AC107027.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251448 chr3 126288867 126294024 - AC063919.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251449 chr4 92702345 92702659 + MTND1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251450 chr5 80947697 80960907 - RASGRF2-AS1 antisense 102524628 6 1 2 18 0 0 9 2 7 ENSG00000251451 chr7 66407288 66409239 - GTF2IP9 transcribed_unprocessed_pseudogene 0 4 0 1 7 0 0 1 0 ENSG00000251452 chr4 144920713 144921164 - AC109811.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251453 chr5 140581504 140582335 + HAUS1P1 processed_pseudogene 35 48 53 2 0 10 3 1 0 ENSG00000251454 chr4 75341279 75359024 - AC025244.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251455 chr4 151674483 151677893 + AC092611.1 antisense 0 0 2 3 0 5 3 0 7 ENSG00000251456 chr5 124734618 124735175 - AC113398.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000251458 chr5 176124210 176131461 - AC139491.4 lincRNA 0 0 1 0 0 0 0 0 5 ENSG00000251459 chr4 57491390 57495233 + AC013724.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251460 chr4 8066528 8067724 + AC097381.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251461 chr17 49004731 49013725 - AC091133.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251463 chr4 118193405 118194751 - FKBP4P1 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000251464 chr4 110399773 110400511 - RPL7L1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251467 chr5 72996920 72997642 + AC020893.2 processed_pseudogene 4 5 3 6 7 0 1 4 3 ENSG00000251468 chr8 12958387 12962200 + AC135352.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251470 chr8 46697630 46698688 + ASNSP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251471 chr3 139837220 139859894 + AC016933.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251473 chr4 105102891 105104004 - AC004069.2 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000251474 chr3 129382922 129399655 - RPL32P3 transcribed_unprocessed_pseudogene 122 105 119 129 176 191 165 124 180 ENSG00000251476 chr5 5396477 5396968 - MTCO1P31 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000251477 chr5 117719240 117722097 - AC114322.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251478 chr5 41585882 41587787 - AC008817.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251482 chr4 149789952 149790303 + AKIRIN2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251483 chr4 110945109 110945799 - LYPLA1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251484 chr1 109103535 109104766 - AL356488.1 processed_pseudogene 0 0 1 0 0 1 0 1 0 ENSG00000251485 chr2 232343116 232343903 + AC068134.3 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000251487 chr5 19035197 19038799 - AC106744.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251488 chr4 132836772 132981677 - AC115622.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251489 chr4 69888877 69889406 + AC108941.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251490 chr4 187516153 187517208 - AC093763.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251491 chr2 158862311 158863285 + OR7E28P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251492 chr4 136004509 136004902 - AC104136.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251493 chr5 73444827 73448527 - FOXD1 protein_coding This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]. 2297 GO:0005634, GO:0000785, GO:0000785, nucleus, chromatin, chromatin, GO:0043565, GO:0008301, GO:0003700, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific DNA binding, DNA binding, bending, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090184, GO:0072267, GO:0072213, GO:0072210, GO:0072076, GO:0060678, GO:0045944, GO:0045892, GO:0032275, GO:0030513, GO:0030154, GO:0010628, GO:0009653, GO:0007411, GO:0006357, positive regulation of kidney development, metanephric capsule specification, metanephric capsule development, metanephric nephron development, nephrogenic mesenchyme development, dichotomous subdivision of terminal units involved in ureteric bud branching, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, luteinizing hormone secretion, positive regulation of BMP signaling pathway, cell differentiation, positive regulation of gene expression, anatomical structure morphogenesis, axon guidance, regulation of transcription by RNA polymerase II, 0 0 2 0 0 0 1 0 2 ENSG00000251495 chr5 82009602 82010094 - PPIAP11 processed_pseudogene 3 0 1 1 0 1 2 3 0 ENSG00000251497 chr12 123081384 123084744 + PITPNM2-AS1 lincRNA 100507091 0 0 0 0 0 0 0 0 0 ENSG00000251498 chr4 68972999 68975993 - AC021146.10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251501 chr4 43586328 43588097 + AC114774.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251503 chr1 10430102 10452153 + CENPS-CORT protein_coding This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011]. 100526739 0 0 0 2 0 0 0 0 1 ENSG00000251504 chr4 177729638 177907936 - LINC01099 lincRNA 101928656 0 0 0 0 0 0 0 0 0 ENSG00000251506 chr5 4967764 4970425 - AC010451.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251508 chr1 233295325 233295727 - AL133380.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251510 chrY 18491740 18547698 + AC022486.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251511 chr4 156585979 156590039 + AC096736.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251513 chr5 97089075 97437217 + LIX1-AS1 lincRNA 5 1 7 8 3 5 2 5 1 ENSG00000251515 chr5 39571478 39572639 - CCDC11P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251516 chr4 22607501 22611063 + AC098583.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251517 chr4 42706107 42707335 + AC096734.1 lincRNA 3 0 1 0 0 0 3 0 0 ENSG00000251518 chr5 37948491 37951055 + LINC02110 lincRNA 105374729 0 0 0 0 0 0 0 0 0 ENSG00000251520 chr1 180964511 180965909 + AL162431.3 unprocessed_pseudogene 1 1 1 0 2 9 0 2 1 ENSG00000251521 chr8 81605569 81631134 - IMPA1P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 1 0 3 0 ENSG00000251523 chr4 98496364 98509935 + AC108159.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000251525 chrX 102173100 102185021 + TCP11X3P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251526 chr4 123505279 123527525 + LINC02435 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251527 chr4 65858761 65860204 + AC097110.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251529 chr4 68877626 68880131 - AC021146.11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251532 chr5 1544107 1551710 - AC091849.2 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000251533 chr14 103187221 103189028 - LINC00605 lincRNA 100131366 0 0 0 0 0 0 0 0 0 ENSG00000251535 chr4 336258 336786 - AC079140.4 processed_pseudogene 0 0 3 0 0 1 2 0 0 ENSG00000251536 chr12 129852208 129854944 - AC055717.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251537 chr17 15571491 15651653 - AC005324.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000251538 chr5 122628952 122730685 - LINC02201 lincRNA 101927379 0 0 0 0 0 0 0 0 0 ENSG00000251539 chr4 49561479 49562149 + SNX18P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251542 chr5 114576041 114579970 + LINC01957 lincRNA 101927059 0 0 0 0 0 0 0 0 0 ENSG00000251543 chr5 73337906 73338533 + LINC02230 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251544 chr5 94567461 94568909 + MTND5P12 processed_pseudogene 5 1 0 1 0 3 0 0 0 ENSG00000251545 chr5 179522457 179525074 + AC136628.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251546 chr2 89862482 89862981 + IGKV1D-39 IG_V_gene 2 0 0 1 1 0 0 1 0 ENSG00000251548 chr5 10664495 10665113 - AC106760.2 processed_pseudogene 1 0 0 0 2 0 3 0 0 ENSG00000251549 chr5 8410789 8410996 - AC091965.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251550 chr17 49037122 49037429 + AC091133.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251552 chr5 83279921 83280644 - COQ10BP2 processed_pseudogene 2 2 3 0 2 2 11 4 13 ENSG00000251553 chr5 98679402 98681367 + DDX18P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251555 chr4 131930031 131975952 - AC096711.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251556 chr5 146099406 146120412 + AC091887.1 antisense 6 2 11 19 4 10 6 3 18 ENSG00000251557 chr11 43120762 43269393 - HNRNPKP3 transcribed_processed_pseudogene 399881 0 0 0 0 0 0 0 0 0 ENSG00000251562 chr11 65497688 65506516 + MALAT1 lincRNA This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]. 378938 GO:0005634, nucleus, GO:2000147, GO:0110024, GO:0071456, positive regulation of cell motility, positive regulation of cardiac muscle myoblast proliferation, cellular response to hypoxia, 17907 20732 26844 44707 41098 59591 52774 33336 50181 ENSG00000251563 chr8 87598462 87601634 - IARS2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251566 chr5 77146568 77147165 + HMGB1P35 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251567 chr4 136118675 136395471 - AC018680.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251568 chr5 5375723 5376836 - ALG3P1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000251569 chr2 169479480 169525922 + AC093899.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000251571 chr4 103572089 103574082 + DDX3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251572 chr4 102461250 102462152 + AF213884.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251573 chr5 50969217 50970167 - LINC02106 lincRNA 100287592 0 0 0 0 0 0 0 0 0 ENSG00000251574 chr5 104383298 105392970 - AC099520.1 lincRNA 105379109 0 0 0 0 0 0 0 0 0 ENSG00000251575 chr5 61732774 61735669 - C5orf64-AS1 lincRNA 100506526 0 0 0 0 0 0 0 0 0 ENSG00000251576 chr3 14348451 14352568 - LINC01267 lincRNA 101927565 0 0 0 0 1 0 0 0 0 ENSG00000251577 chr4 103548745 103624534 + AC105460.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251578 chr7 142636924 142637384 + TRBV21-1 TR_V_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000251579 chr3 130927754 130928276 - AC055733.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251580 chr4 6648696 6673896 - LINC02482 lincRNA 1 0 2 1 5 2 4 3 2 ENSG00000251583 chr5 149932014 149932668 - AC008427.1 processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000251584 chr4 174536640 174540784 + AC096751.2 lincRNA 1 0 0 2 0 0 0 0 0 ENSG00000251585 chr5 86402465 86402960 + AC026444.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251586 chr4 105171354 105178063 - TET2-AS1 antisense 9 10 18 12 25 25 21 14 33 ENSG00000251587 chr4 4894182 4895173 - LDHAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251588 chr4 36506043 36508869 + AC125336.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251590 chr3 32063974 32066611 - NIFKP7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251591 chr5 36071791 36072079 - AC016612.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251593 chr5 25909503 25911234 + MSNP1 processed_pseudogene 36 31 48 7 6 7 6 7 5 ENSG00000251595 chr4 425435 474129 - ABCA11P transcribed_processed_pseudogene 79963 GO:0016021, integral component of membrane, GO:0042626, GO:0005524, ATPase-coupled transmembrane transporter activity, ATP binding, GO:0055085, transmembrane transport, 0 1 1 4 1 0 0 4 0 ENSG00000251596 chr4 165404067 165406350 - HADHAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251597 chr5 54399439 54400033 + RPL37P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251598 chr4 132004810 132124031 - AC096711.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251599 chr5 73132008 73150592 - AC116345.3 antisense 105379030 0 0 0 0 0 0 0 0 0 ENSG00000251600 chr4 143559457 144188367 + AC139713.2 processed_transcript 101927636 0 0 2 1 3 0 0 0 2 ENSG00000251601 chr5 50929484 50934521 - AC022441.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251602 chr14 105416884 105419739 - AL928654.1 antisense 100507437 0 0 0 1 0 0 0 0 0 ENSG00000251603 chr4 151667224 151670502 + AC092611.2 antisense 0 0 0 0 0 0 2 0 0 ENSG00000251604 chr5 73451498 73453395 + LINC01385 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251605 chr5 78307503 78307914 + AC104108.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251608 chr6 29414928 29418905 + OR12D1 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 26530 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000251609 chr4 120895494 120897083 - SETP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251610 chr3 130048143 130055920 - AC083906.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251611 chr4 151407551 151408835 - FAM160A1-DT lincRNA 0 0 1 1 1 0 1 0 0 ENSG00000251613 chr5 72687112 72762727 - AC063979.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251614 chr3 132645831 132650383 + HSPA8P19 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000251615 chr4 8355090 8358338 - AC104825.1 lincRNA 2 8 3 17 21 5 12 8 15 ENSG00000251616 chr5 133111055 133114475 - AC113410.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251618 chrY 21895394 21897559 + AC007322.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251619 chr4 188776657 188785511 + LINC02508 lincRNA 105377610 0 0 0 0 0 0 0 0 0 ENSG00000251620 chr4 97366926 97490164 + STPG2-AS1 antisense 101410545 0 0 0 0 0 0 0 0 0 ENSG00000251621 chr2 161424015 161428774 + AC009487.2 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000251623 chr5 176119545 176156937 + AC139491.5 transcribed_processed_pseudogene 0 0 2 0 0 0 1 0 0 ENSG00000251624 chr4 9493736 9498066 + UNC93B7 unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000251627 chr5 110983563 110984466 - AC010395.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251629 chr5 20611840 20937691 + LINC02241 lincRNA 105374676 0 0 0 0 0 0 0 0 0 ENSG00000251630 chr4 49561285 49561470 - AC119751.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251632 chr4 137545731 137603430 + LINC02172 lincRNA 105377443 0 0 0 0 0 0 0 0 0 ENSG00000251633 chr8 73905357 73915010 - GYG1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251634 chr5 71102898 71128753 - AC145138.1 unprocessed_pseudogene 0 0 8 0 0 2 3 0 8 ENSG00000251635 chr4 38564003 38570671 + LINC02278 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251636 chr4 100812255 100814280 - LINC01218 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000251637 chr11 67886477 67906350 + AP003716.1 lincRNA 0 0 1 2 0 0 3 1 0 ENSG00000251638 chr4 24768049 24768331 + AC006390.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251639 chr4 1100016 1101558 - AC092535.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251642 chr4 38286994 38287491 + AC098680.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251643 chr4 187441677 187444298 - AC093763.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251644 chr4 15864938 15865940 - HPRT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251647 chr4 83377363 83378076 - AC114781.4 processed_pseudogene 0 0 1 4 0 0 0 0 0 ENSG00000251648 chr5 65732973 65733654 + AC008958.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000251649 chr4 126070708 126072004 + LINC02379 lincRNA 101927109 0 0 0 0 0 0 0 0 0 ENSG00000251652 chr4 1113639 1132977 + AC092535.3 antisense 105374344 0 0 2 0 1 0 0 0 0 ENSG00000251654 chr5 25218973 25298612 - AC099499.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251655 chr12 11351823 11395566 - PRB1 protein_coding This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the 'Medium' allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]. 5542 GO:0005576, extracellular region, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000251656 chr5 42908208 42908667 - PRELID3BP5 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000251660 chr7 30157531 30159534 + AC007036.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000251661 chr11 318640 325631 + AC136475.1 antisense 51 59 49 92 103 67 71 77 82 ENSG00000251663 chr5 75225424 75225668 + SUMO2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251664 chr5 140875302 141012344 + PCDHA12 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56137 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000251665 chr17 50944104 50948750 + AC005920.3 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000251666 chr5 177051714 177052963 + ZNF346-IT1 sense_intronic 0 4 6 0 2 12 3 4 2 ENSG00000251667 chr5 176308063 176309013 + BRCC3P1 processed_pseudogene 1 2 4 1 0 6 3 0 0 ENSG00000251668 chr5 76170930 76171106 + AC113404.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251669 chr4 3941760 3955419 - FAM86EP transcribed_unprocessed_pseudogene 348926 0 1 0 3 0 3 0 0 0 ENSG00000251670 chr5 174751304 174850725 + AC113346.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251675 chr5 80128361 80143883 + AC010260.1 antisense 33 26 37 35 21 33 22 14 23 ENSG00000251676 chr4 131773302 131791482 + SNHG27 lincRNA 101927305 0 0 0 0 0 0 0 0 0 ENSG00000251678 chr5 7344579 7345921 + AC027343.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251679 chr4 14134936 14143592 + AC073848.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251680 chr5 129500361 129905917 - AC008591.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000251682 chr5 61347126 61347716 + AC122718.2 processed_pseudogene 17 13 15 13 32 36 23 25 28 ENSG00000251685 chr4 69004862 69020414 - UGT2B27P unprocessed_pseudogene 101929773 0 0 0 0 0 0 0 0 0 ENSG00000251686 chr1 159366161 159367089 + OR10J8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251687 chr4 145833118 145839580 + AC104791.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000251688 chr4 147567606 147594587 + LINC02507 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000251689 chr4 269866 270175 - AC079140.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251691 chr4 69306469 69307173 - AC114786.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251692 chr16 1485886 1488981 - PTX4 protein_coding This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]. 390667 GO:0005576, extracellular region, GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000251694 chr4 9358383 9359975 + USP17L9P unprocessed_pseudogene 391627 0 0 0 0 0 0 0 0 0 ENSG00000251697 chr9 34478622 34478905 + RN7SKP24 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251698 chr17 66639269 66639383 + RNA5SP445 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251702 chr18 30984106 30984215 + RNU6-857P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251703 chr4 57002692 57002792 + RNU6-998P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251704 chr2 16199203 16199295 + RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251705 chrY 10200155 10200306 + RNA5-8SP6 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251706 chr16 30483135 30483195 - RNU7-61P snRNA 5 3 4 2 0 0 5 1 0 ENSG00000251707 chrX 120503037 120503096 - RNU7-37P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251711 chr10 25819363 25819426 - RNU6-632P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251712 chr7 148821012 148821073 + RNU7-20P snRNA 0 1 0 0 0 0 0 0 0 ENSG00000251714 chr4 182631454 182631688 - RN7SKP67 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251715 chr13 72460519 72460601 - RF00263 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251717 chr16 35753796 35753930 + RNA5SP419 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251718 chr2 11561194 11561306 + RNU2-13P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251719 chr18 29048620 29048719 + RNU6-408P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251720 chr1 63536711 63536770 - RNU7-123P snRNA 0 1 0 0 0 0 0 0 0 ENSG00000251722 chr4 48574453 48574520 - RNU5E-3P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251724 chr5 75538598 75538658 - RNU7-175P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251726 chr14 34845300 34845360 - RNU7-41P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251727 chr3 93843764 93843862 + RNU6-488P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251728 chr7 140094697 140094792 - RF00019 misc_RNA 8 12 1 26 47 55 12 26 29 ENSG00000251729 chr15 97472126 97472252 - RNA5SP401 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251730 chr3 183454128 183454262 + RF00394 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251732 chr5 107810629 107810924 + RN7SKP122 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251733 chr9 19063656 19063786 - SCARNA8 scaRNA 677776 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 1 0 1 0 ENSG00000251735 chr14 46960423 46960546 + RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251739 chr4 183705931 183706031 + RNU6-1053P snRNA 2 4 3 4 2 0 1 0 0 ENSG00000251741 chr5 113493835 113493960 + RNU4ATAC13P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251742 chr4 181834865 181835108 - RN7SKP13 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251744 chr8 139108430 139108534 + RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251745 chr9 37936707 37936768 - RNU7-124P snRNA 0 0 0 0 0 0 1 0 0 ENSG00000251746 chr2 177138699 177138797 + RNA5SP112 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251747 chr12 11546479 11546540 + RNU7-60P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251748 chr9 33868540 33868665 + RNU4ATAC11P snRNA 1 4 0 0 2 0 0 0 1 ENSG00000251750 chr1 240653367 240653477 + RNU5F-8P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251751 chr3 157930492 157930725 - RN7SKP46 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251752 chr9 83275941 83276114 + RNU4-29P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251753 chr13 90781766 90781869 - RNU6-75P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251754 chr1 245043928 245044032 + RNU6-999P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251756 chr14 51692752 51692861 + RNA5SP385 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251757 chr2 130622838 130622944 + RNU6-848P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251759 chr3 166670029 166670122 - RN7SKP298 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251760 chr16 35752826 35752942 + RNA5SP418 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251761 chr3 18954943 18955049 - RNU6-138P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251763 chr17 43412427 43412530 + RNU6-470P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251764 chr17 66895491 66895572 + RNA5SP446 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251766 chrY 10090410 10090528 - RNA5SP518 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251767 chr1 77420325 77420386 + RNU7-8P snRNA 0 0 0 0 0 0 0 1 0 ENSG00000251768 chr6 127317883 127317973 - RNA5SP217 rRNA_pseudogene 0 0 0 0 3 2 0 0 0 ENSG00000251770 chr20 47873191 47873273 + RNA5SP486 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251773 chr3 86235321 86235424 + RNU6-1129P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251774 chr3 12514706 12514807 + RNU6-377P snRNA 0 0 0 0 0 0 0 2 0 ENSG00000251775 chr2 63883249 63883391 - RF01293 snoRNA 0 0 1 1 2 0 1 1 6 ENSG00000251776 chr9 83200940 83201228 - RN7SKP242 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251778 chr21 41882205 41882300 + RF00334 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251779 chr17 76319376 76319473 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251781 chr12 30306431 30306524 - RNA5SP356 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251783 chr10 42605158 42605263 + RNU6-1170P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251785 chr1 77614869 77614952 + RNA5SP20 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251787 chr3 142801207 142801268 + RNU7-47P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251788 chr12 64228560 64228675 - RNU5A-7P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251789 chr1 223373822 223373956 + RNU4-57P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251791 chr2 233288676 233288940 + SCARNA6 scaRNA 677772 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 3 3 0 1 3 0 1 0 ENSG00000251792 chr14 50086982 50087083 + RF00019 misc_RNA 2 0 0 0 0 0 0 0 0 ENSG00000251794 chr16 74456541 74456611 + RNU6-237P snRNA 0 0 0 4 1 1 1 1 17 ENSG00000251796 chrY 26247384 26247521 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251798 chr7 76087444 76087547 + RNU6-863P snRNA 0 2 0 0 0 0 0 0 0 ENSG00000251799 chr4 56818218 56818314 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251802 chr7 34892417 34892549 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251803 chr10 17403508 17403620 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251804 chr3 142407657 142407737 - RNU6-1294P snRNA 0 0 0 0 0 3 0 0 0 ENSG00000251805 chr2 24273614 24273741 - RF00602 scaRNA 0 0 1 0 5 0 0 0 8 ENSG00000251807 chrX 41919254 41919349 - RNU6-202P snRNA 1 0 0 0 0 4 0 0 0 ENSG00000251809 chr17 54770949 54771277 + RN7SKP14 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251810 chr10 27783846 27784053 - RN7SKP132 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251811 chr3 43472477 43472596 + RF00019 misc_RNA 2 0 1 1 0 0 0 0 1 ENSG00000251812 chr17 4186326 4186424 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251813 chr1 194488103 194488205 - RNU6-983P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251814 chr6 117299364 117299638 + RN7SKP18 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251815 chr15 25099499 25099594 + SNORD116-26 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251816 chr4 19181814 19181856 - RNA5SP157 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251818 chr17 28018770 28018907 + RF00601 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000251819 chr15 100551820 100551922 - RNU6-322P snRNA 3 1 5 4 2 0 1 3 0 ENSG00000251821 chr4 127891991 127892082 + RNU6-583P snRNA 0 0 0 0 0 0 2 0 0 ENSG00000251822 chr12 60363822 60363935 + RF00413 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251823 chr1 228558296 228558339 - RNA5SP162 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251825 chr1 73191604 73191855 - RN7SKP19 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251828 chr5 80306235 80306368 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251829 chr17 15782341 15782455 + RNA5SP436 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251830 chr6 24166273 24166374 + RF00218 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251831 chr6 16205014 16205120 + RNU6-1114P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251834 chr9 15431899 15432006 - RNU6-319P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251835 chr8 54152807 54152882 - RNU6ATAC32P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251837 chr1 93027410 93027506 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251838 chr11 37702125 37702220 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251839 chr10 27232255 27232316 - RNU7-12P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251840 chr8 123588759 123589046 + RN7SKP155 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251841 chrY 2784749 2784853 + RNU6-1334P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251842 chr5 149057554 149057656 - RNU6-732P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251843 chr19 53719064 53719165 - RNU6-803P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251844 chr12 97552137 97552228 - RF00537 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251850 chr2 69181897 69182003 - RNA5SP96 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251851 chr21 20355748 20355852 - RNU6-772P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251852 chr7 103433461 103433561 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251854 chr3 149779009 149779108 - RNU6-507P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251856 chr5 55172262 55172353 - MIR449C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313923 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000251857 chr12 66066221 66066338 + RNA5SP362 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251858 chr14 41594463 41594591 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251859 chr2 14274622 14274725 - RNU6-1288P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251861 chr1 204727991 204728106 + RF00601 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000251862 chr11 34941837 34941920 + MIR1343 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616437 0 0 0 0 0 0 0 0 0 ENSG00000251864 chr6 36672838 36672944 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251865 chr17 58835899 58835994 + RNU6-518P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251866 chr1 15542165 15542304 + SCARNA21B scaRNA 107397391 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000251867 chr8 80484561 80486699 - AC009812.1 antisense 6 5 13 12 4 10 6 6 20 ENSG00000251868 chr16 72821933 72821992 - RNU7-71P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251869 chrX 24744441 24744570 + SCARNA23 scaRNA 677773 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000251870 chr18 58926197 58926296 - RNU2-69P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251873 chr5 51886688 51886769 + RNA5SP182 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251874 chr4 83003412 83003517 + RNU6-615P snRNA 0 0 0 0 3 3 0 0 0 ENSG00000251875 chr1 179576268 179576349 + RNU5F-2P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251877 chr6 28410270 28410456 + RNU2-45P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251878 chr4 184431966 184432049 + RF00152 snoRNA 0 2 0 0 0 3 1 0 0 ENSG00000251880 chr5 37327135 37327196 + RNU7-75P snRNA 0 0 0 0 0 5 0 0 0 ENSG00000251882 chr6 114866873 114866976 - RNU6-475P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251883 chr20 25611153 25611223 + RNU6ATAC17P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251884 chr9 95142449 95142541 - RNA5SP288 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251886 chr18 21120404 21120506 - RNU6-120P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251887 chr5 31832439 31832535 + RNU6-760P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251888 chr16 82192505 82192790 - RN7SKP190 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251889 chr2 48340687 48340826 - RNU4-49P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000251890 chr22 32635102 32635198 - RNA5SP497 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251891 chr15 85389823 85389884 - RNU7-79P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251892 chr8 106729795 106729856 - RNU7-84P snRNA 0 0 0 3 0 0 0 0 0 ENSG00000251893 chr12 75689152 75689304 - RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251895 chr14 84739942 84740052 + RNU6-976P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251896 chr15 25101575 25101666 + SNORD116-27 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251897 chr18 6936912 6937020 - RNU6-916P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251898 chr12 6581474 6581609 - SCARNA11 scaRNA 677780 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 1 0 0 0 0 0 ENSG00000251900 chr2 65555432 65555534 - VTRNA2-2P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251904 chr8 88396437 88396547 - RNA5SP272 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251905 chr2 146145156 146145217 + RNU7-2P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251906 chr4 104974672 104974771 + RNU6-351P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251907 chr14 73659564 73659660 - RNU6-240P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251908 chr12 14250232 14250341 - RNU6-491P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251913 chr22 42569147 42569250 - RNU6-513P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251914 chr1 20841241 20841302 + RNU7-200P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251915 chr16 35734393 35734504 + RNA5SP406 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251916 chr6 32549940 32550090 - RNU1-61P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251917 chrY 23946618 23946771 - RNU1-86P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251919 chr11 72621766 72621827 + RNU7-105P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251920 chr6 125979812 125979934 - RNA5SP216 rRNA_pseudogene 6 9 7 9 5 16 11 6 10 ENSG00000251922 chr10 6017054 6017194 - RF00397 snoRNA 0 0 1 0 0 0 2 0 0 ENSG00000251923 chr4 55798636 55798731 + RNU6-276P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251924 chr16 35735372 35735471 + RNA5SP408 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251925 chrY 23423099 23423236 - RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251929 chr14 49901850 49901950 - RNU6-189P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251931 chr12 59450673 59450772 - RNU6-871P snRNA 0 0 0 0 0 0 0 0 4 ENSG00000251934 chr11 3714772 3714875 - RNU6-1143P snRNA 1 0 2 3 8 0 7 4 5 ENSG00000251935 chr2 190553264 190553480 - RN7SKP179 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251936 chr7 147849884 147849982 + RNA5SP249 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251937 chr18 12400412 12400473 + RNU7-129P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251939 chr18 46121615 46121721 - RNU6-1278P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251940 chr22 19249873 19249966 + RF00398 snoRNA 1 0 0 0 0 0 0 0 0 ENSG00000251941 chr2 208054161 208054258 - RNA5SP116 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251942 chr2 53470447 53470629 - RF00424 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000251943 chr1 172613428 172613534 - RNU6-693P snRNA 0 1 0 0 0 0 0 0 0 ENSG00000251946 chr6 54786387 54786492 + RNU6-1023P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251947 chr2 76595413 76595678 - RN7SKP164 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251951 chr5 87102603 87102846 - RN7SKP34 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251952 chr22 29191697 29191808 - RNU6-1219P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251953 chrY 18346123 18346238 - RNA5SP522 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251954 chrX 111421510 111421608 - RNU6-496P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251955 chr20 17187510 17187616 + RNU6-27P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251956 chr2 131602790 131602896 + RNU6-617P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251957 chr10 11923181 11923288 + RNU6-1095P snRNA 0 3 3 5 9 2 11 8 7 ENSG00000251958 chr1 78088988 78089083 - RNU6-1102P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251960 chr9 15143289 15143386 + RNU6-559P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251961 chr4 170891467 170891597 + RNU6ATAC13P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251965 chr6 67467231 67467308 - RNA5SP208 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251967 chr3 46650510 46650590 + RF00591 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251970 chrY 18833729 18833890 - RNU1-41P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251971 chr2 238028971 238029063 - RNU6-1333P snRNA 0 0 0 0 4 3 1 1 0 ENSG00000251972 chr21 25943044 25943145 - RNU6-123P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251973 chr2 130497743 130497849 - RNU6-473P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251974 chr2 86364136 86364265 + RF00413 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251975 chr5 120337549 120337653 - RNU6-718P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251976 chr2 136390332 136390669 + RN7SKP141 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251977 chr1 8292157 8292263 - RNU6-991P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251978 chr7 106781600 106781715 - RNA5SP236 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251980 chr2 157912772 157912885 + RNU6-436P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251981 chr17 62383104 62383166 + RNU7-52P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251982 chr2 217251556 217251875 + RN7SKP43 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251983 chr5 62146665 62146946 + RN7SKP157 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251985 chr22 45624531 45624632 - RNU6-1161P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251986 chr3 41868998 41869095 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251987 chr3 53530322 53530401 - RF00154 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000251988 chr6 159720415 159720540 - RNU4ATAC18P snRNA 3 4 9 0 0 6 1 0 4 ENSG00000251990 chr5 17156971 17157071 - RNA5SP180 rRNA_pseudogene 0 0 2 0 0 0 0 1 0 ENSG00000251991 chr11 14478892 14478953 + RNU7-49P snRNA 3 3 3 1 4 6 13 6 4 ENSG00000251992 chr18 49814133 49814276 + SCARNA17 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000251993 chr7 22298594 22298706 + RNA5SP227 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251994 chr18 9518119 9518260 - RNU2-27P snRNA 21 9 25 3 15 9 10 6 11 ENSG00000251996 chrY 7341531 7341642 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000251997 chr18 50319002 50319120 + RNA5SP458 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000251998 chr5 163796065 163796165 - RNU6-168P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000251999 chr7 32791814 32791946 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252001 chr10 19633683 19633812 - RNA5SP303 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252002 chr4 9792751 9792861 - RNA5SP154 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252003 chr7 122081720 122081781 + RNU7-154P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252005 chr1 73883714 73883822 + RNU4ATAC8P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252008 chr12 124901512 124901611 + RNU6-927P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252010 chr2 233275727 233276002 + SCARNA5 scaRNA 677775 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 1 0 0 0 0 1 2 0 0 ENSG00000252011 chr1 246833448 246833529 - RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252012 chrY 17559774 17559889 + RNA5SP521 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252013 chr14 75202081 75202169 - RNU4ATAC14P snRNA 0 0 0 0 0 0 0 2 0 ENSG00000252014 chr4 131768140 131768249 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252015 chr2 141167257 141167357 - RNU6-904P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252016 chrX 88148792 88148918 + RF01225 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252017 chr3 282689 282792 - RNU6-1194P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252018 chr1 52754322 52754462 + RNU2-30P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252019 chr14 54859215 54859330 + RNU6ATAC9P snRNA 4 1 2 2 0 4 4 0 1 ENSG00000252020 chr22 21389796 21389938 - RF00492 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252021 chr20 45004348 45004454 + RF00019 misc_RNA 2 0 1 0 0 0 2 0 1 ENSG00000252022 chr16 76469508 76469595 - RF00133 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252023 chr7 120672871 120672975 + RNU6-581P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252025 chr19 53745004 53745105 - RNU6-982P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252026 chr16 68284223 68284318 - RNU6-1262P snRNA 1 1 0 0 0 0 5 0 0 ENSG00000252027 chr2 176664676 176664766 + RNU6ATAC14P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252028 chr3 177503303 177503552 - RN7SKP52 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252029 chr8 12087396 12087445 - RNA5SP253 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252030 chr4 153265662 153265755 - RNU6-1196P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252031 chr2 79636862 79636963 - RNU6-561P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252032 chr1 51538625 51538729 - RNU6-1281P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252033 chr11 78579255 78579356 - RNU6-311P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252034 chr18 46077004 46077099 - RNY4P37 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252035 chr8 14487776 14487879 - RNU6-397P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252036 chr10 110756456 110756723 + RN7SKP288 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252037 chr7 143574746 143574848 + RNU6-162P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252039 chr17 42891338 42891435 - RNU6-287P snRNA 0 0 0 0 0 0 1 0 0 ENSG00000252040 chr16 68630223 68630354 - RF01233 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252041 chr7 24132705 24132837 + RNA5SP228 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252042 chr17 75145670 75145762 + RF00019 misc_RNA 1 1 7 9 13 12 21 6 26 ENSG00000252045 chr21 32538299 32538434 + RF00438 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252046 chr6 20993474 20993568 - RNU6-150P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252047 chr7 103434994 103435092 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252049 chr10 23166985 23167101 + RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252050 chrX 38308112 38308241 - RF00322 snoRNA 2 3 5 4 20 10 6 3 1 ENSG00000252051 chr1 229410500 229410767 - RN7SKP276 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252053 chr3 194533503 194533583 - RNU6-1101P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252057 chr8 80560567 80560625 + RNU7-174P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252060 chr19 11996809 11996916 + RNA5SP464 rRNA_pseudogene 0 0 0 9 2 17 3 7 18 ENSG00000252061 chr15 78898840 78898936 - RNU6-415P snRNA 6 1 1 4 8 1 0 4 1 ENSG00000252062 chr4 84886386 84886486 - RNU6-469P snRNA 2 1 0 1 1 0 1 2 0 ENSG00000252063 chr19 53760087 53760188 - RNU6-1041P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252064 chr20 57311854 57311958 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252065 chr14 28982303 28982410 - RNU6-864P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252066 chr15 53651977 53652123 + RNU2-53P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252067 chr8 23600026 23600138 - RNU4-71P snRNA 0 0 2 0 0 0 0 0 3 ENSG00000252068 chr5 157579497 157579599 + RNU6-390P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252069 chrX 109744643 109744749 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252070 chr11 57450183 57450299 + RNA5SP341 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252072 chr10 73706490 73706613 + RNA5SP320 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252073 chr1 244954858 244954963 + RNU6-947P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252074 chr16 30675300 30675402 - RNU6-416P snRNA 0 0 0 7 4 5 0 2 3 ENSG00000252076 chr10 58869184 58869528 + RN7SKP196 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252079 chr12 132835374 132835500 - RNU6-327P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252080 chr16 6748908 6748969 + RNU7-99P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252081 chr11 105974826 105974931 - RNU6-277P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252082 chr3 172703124 172703225 + RNU6-547P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252083 chr5 23972188 23972294 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252084 chr1 242188647 242188789 - RN7SKP12 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252086 chr1 219761789 219761875 + RNA5SP76 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252087 chr4 90370123 90370427 + RN7SKP248 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252089 chr20 54859688 54859812 - RNU4ATAC7P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252091 chr20 56667430 56667531 + RNU6-1146P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252094 chr16 35745989 35746094 + RNA5SP410 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252096 chr20 4868984 4869118 + RF00322 snoRNA 0 0 1 0 1 1 0 0 0 ENSG00000252097 chr18 76800664 76800774 - RNU6-346P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252098 chr1 27255464 27255567 - RF00019 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000252101 chr16 75286712 75286800 - RNU6-758P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252103 chr20 1529056 1529159 - RNU6-917P snRNA 1 6 5 0 1 2 8 6 0 ENSG00000252104 chr4 64397694 64397787 - RNU6-191P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252105 chr1 143791542 143791687 - RNU1-143P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252106 chr6 34873831 34873927 + RNY3P15 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252107 chr6 140158591 140158694 - RNA5SP220 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252108 chr5 68159061 68159146 - RNU6-1232P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252112 chr17 30246757 30246820 - RF00154 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252113 chr10 67858818 67858871 - RNU6-523P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252115 chr7 116909877 116909964 - RF00019 misc_RNA 8 10 3 10 9 10 15 10 9 ENSG00000252116 chr1 67267601 67267726 - RNU4ATAC4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252117 chr15 44927600 44927703 - RNU6-1108P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252118 chr10 12456483 12456631 + RNU6ATAC39P snRNA 1 2 2 0 3 16 3 1 2 ENSG00000252119 chr11 119323293 119323409 - RF01225 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252121 chr1 92969604 92969710 - RNU6-970P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252122 chr16 75409332 75409466 - RF00598 snoRNA 0 0 0 0 0 0 0 1 0 ENSG00000252125 chr6 107133071 107133170 + RNU6-1299P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252126 chr7 66344303 66344414 + RNU6-313P snRNA 0 0 0 0 1 0 0 0 1 ENSG00000252128 chr13 21139886 21139957 - RF00086 snoRNA 0 0 0 4 6 0 1 1 5 ENSG00000252129 chr17 15574019 15574198 + RF00090 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252130 chr2 191370938 191371044 + RNU6-1045P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252132 chr10 38043873 38043975 - RNU6-795P snRNA 4 0 0 2 4 1 3 1 2 ENSG00000252133 chr9 62358191 62358285 - RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252135 chr1 148385829 148385963 - RNVU1-2 snRNA 0 0 0 0 1 0 0 0 0 ENSG00000252136 chr4 105105987 105106094 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252137 chr6 75593055 75593145 + RNU6-1338P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252138 chr16 7726841 7726951 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252139 chr18 49814361 49814443 + RF00283 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252141 chr13 51565412 51565509 + RNU6-65P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252143 chr22 21544897 21545039 + RF00492 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252145 chrX 68102068 68102132 - RNU6-1225P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252147 chrX 119456558 119456658 + RNY3P16 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000252148 chr2 201079842 201079944 + RNU6-1206P snRNA 1 2 1 2 0 0 0 0 0 ENSG00000252149 chr10 48040462 48040577 + RNA5SP315 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252151 chr1 14124233 14124335 - RNU6-1265P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252153 chr9 94809962 94810057 + MIR2278 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313780 0 0 0 0 0 0 0 0 0 ENSG00000252155 chrY 7378672 7378779 + RNU6-941P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252156 chr6 75768059 75768158 - RNU6-155P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252157 chr4 183653572 183653676 - RNU6-479P snRNA 0 0 1 0 1 7 0 0 0 ENSG00000252158 chr8 131432776 131432869 - RF00139 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252161 chr10 53458197 53458288 + RNA5SP318 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252162 chr1 55398514 55398620 + RNU6-830P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252163 chrX 138397351 138397628 + RN7SKP31 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252164 chr9 34206134 34206241 - RNA5SP282 rRNA_pseudogene 0 1 3 0 1 9 6 1 3 ENSG00000252166 chrY 18116848 18117007 + RNU1-95P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252167 chr9 81885496 81885598 + RNA5SP287 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252169 chr5 173292517 173292619 - RNA5SP200 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252170 chrX 129518576 129518647 + RF01169 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252171 chr15 45047103 45047215 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252172 chr3 149917342 149917449 - RNU6-720P snRNA 1 0 2 4 3 9 4 2 1 ENSG00000252173 chrY 16248935 16249041 + RNU6-109P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252174 chr3 196072819 196072880 + RNU7-18P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252178 chrX 123772078 123772139 - RNU7-69P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252179 chr8 13536029 13536135 + RNA5SP255 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252182 chr16 35747032 35747140 + RNA5SP413 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252183 chr4 121192797 121192903 - RNU6-948P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000252184 chr3 62118300 62118510 - RNU2-10P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252185 chr5 126755316 126755417 - RNU6-752P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252186 chr12 6709452 6709552 + RNU6-781P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252188 chr7 138625060 138625179 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252190 chr1 26006006 26006130 + RF00492 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252191 chr19 53749851 53749951 - RNU6-751P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252192 chr12 122492113 122492241 - RF00411 snoRNA 0 0 2 0 0 0 0 0 0 ENSG00000252193 chr20 43304555 43304679 + RF00426 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252198 chr14 58441844 58441992 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252199 chr21 9907916 9908010 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252200 chr19 44725984 44726058 - RF00285 snoRNA 0 0 0 0 0 2 0 0 0 ENSG00000252202 chr5 179847035 179847130 - RF00019 misc_RNA 0 0 0 0 1 0 0 0 0 ENSG00000252204 chr12 31811088 31811190 + RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252205 chrX 152250572 152250676 - RNU6-764P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252206 chr12 56352387 56352450 - RNU7-40P snRNA 1 4 1 1 0 0 0 0 0 ENSG00000252207 chr12 89726936 89727042 + RNA5SP365 rRNA_pseudogene 6 1 6 0 1 0 4 0 0 ENSG00000252209 chrY 18486511 18486672 + RNU1-48P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252210 chr8 68223318 68223402 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252211 chr19 58363438 58363562 + RNA5SP473 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252212 chr17 59129276 59129458 - RNU2-58P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252213 chr5 139276180 139276320 + SNORA74D snoRNA 109616975 0 0 0 0 0 0 0 0 0 ENSG00000252214 chr2 74319399 74319501 + RNU6-542P snRNA 0 0 0 0 0 0 0 1 0 ENSG00000252217 chr15 65502741 65502836 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252218 chr6 43544144 43544270 + RF00426 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252219 chrX 145992750 145992826 - MIR892C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466721 0 0 0 0 0 0 0 0 0 ENSG00000252220 chr12 83021890 83021992 + RNU6-977P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252222 chr1 184821428 184821489 - RNU7-13P snRNA 12 13 7 11 19 10 19 10 31 ENSG00000252223 chr2 130109204 130109310 - RNU6-1049P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252224 chr9 33174170 33174295 + RNU4ATAC15P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252225 chr22 36440880 36440970 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252228 chr6 30132805 30132966 - RF00554 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252230 chr19 34637696 34637781 - RF00611 snoRNA 0 2 0 1 0 0 0 0 0 ENSG00000252231 chr1 173921070 173921200 + RNA5SP67 rRNA_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000252233 chr4 139794125 139794433 - RN7SKP253 misc_RNA 0 2 0 0 1 2 2 0 3 ENSG00000252236 chr1 156192063 156192203 - RF00568 snoRNA 0 0 1 2 2 0 0 0 0 ENSG00000252237 chr12 28319335 28319463 - RNU4-54P snRNA 0 0 0 0 0 3 0 0 0 ENSG00000252238 chr2 4827001 4827084 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252242 chr17 64825765 64825819 - RNU7-115P snRNA 0 0 0 0 2 0 0 1 0 ENSG00000252243 chr4 46531237 46531342 - RNU6-412P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252244 chr6 149516956 149517017 + RNU7-3P snRNA 7 2 4 4 4 4 3 3 20 ENSG00000252246 chr2 33332898 33333007 + RNA5SP92 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252247 chr13 27343687 27343746 - RNU6-70P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252249 chr6 93879106 93879229 + RF00425 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252250 chr2 69334600 69334692 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252252 chr10 54452423 54452511 - RNU6-687P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252254 chr1 8328067 8328179 + RF00019 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000252255 chr11 125649746 125649887 + RNU2-35P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252257 chr3 181968459 181968681 + RN7SKP265 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252258 chr18 3025434 3025566 - RF00156 snoRNA 1 0 0 0 0 0 0 0 0 ENSG00000252259 chr1 63186336 63186450 - RNA5SP49 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252260 chr18 77863464 77863567 - RNA5SP461 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252261 chr8 32192028 32192153 - RNA5SP262 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252262 chr1 162338643 162338742 + RNA5SP61 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252263 chr14 70496107 70496210 + RNU6-659P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252264 chr8 14319455 14319516 + RNU7-153P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252266 chr4 5426885 5426984 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252267 chr22 26390667 26390776 - RNA5SP495 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252268 chr16 35751828 35751935 + RNA5SP417 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252269 chr12 132995190 132995302 - RNU4ATAC12P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252271 chr16 58384442 58384542 - RNU6-1110P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252272 chr19 29001670 29001775 + RNA5SP470 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252273 chr21 16035413 16035509 - RNU6-426P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252274 chr17 72818836 72818972 - RF00422 scaRNA 0 1 0 0 1 0 0 0 0 ENSG00000252275 chr4 188716665 188716725 - RNU7-192P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252277 chr15 25108268 25108352 + SNORD116-30 snoRNA 100873856 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000252279 chr17 43445507 43445613 + RNU6-406P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252282 chr1 245023015 245023118 + RNU6-1089P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252283 chr17 28061967 28062068 + RF00006 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252284 chr18 58600631 58600698 + SNORA108 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252287 chr13 19088487 19088581 + RNA5SP24 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252288 chr15 44973558 44973661 + RNU6-966P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252289 chrY 10092875 10092993 - RNA5SP519 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252290 chr1 237555040 237555171 - RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252291 chrX 6061644 6061749 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252292 chr10 85650012 85650260 - RN7SKP238 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252294 chrX 102678707 102678813 - RNU6-589P snRNA 0 0 0 0 1 0 3 0 0 ENSG00000252296 chrX 100100084 100100172 + RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252297 chr8 123342414 123342519 + RNU6-875P snRNA 0 0 0 1 0 3 0 0 0 ENSG00000252301 chr3 63545440 63545535 + RNA5SP134 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252302 chr3 176763233 176763341 + RNA5SP147 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252305 chr17 14177131 14177310 + RF00090 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252307 chr4 9411178 9411253 - RNA5SP153 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252311 chr16 85781775 85781899 - RNU1-103P snRNA 0 1 0 6 0 3 2 1 0 ENSG00000252312 chr14 36231555 36231774 - RN7SKP21 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252313 chr9 32293558 32293692 + RNA5SP281 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252315 chrY 17557864 17557976 + RNA5SP520 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252316 chr7 148963315 148963410 + RNY4 misc_RNA 6086 0 0 0 0 0 0 0 0 0 ENSG00000252317 chr1 240341385 240341477 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252319 chr18 8720034 8720132 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252320 chrX 136583240 136583345 + RNU6-320P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252321 chr2 85820435 85820612 - RN7SKP83 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252322 chr4 88583666 88583972 - RN7SKP244 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252323 chrY 16336283 16336389 - RNU6-184P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252325 chr18 21879801 21879904 + RNU6-1038P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252326 chr15 25097663 25097754 + SNORD116-25 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252328 chr17 35097560 35097657 - RF00006 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252329 chr11 12904817 12904988 - RF00424 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252332 chr7 139448740 139448843 + RNU6-911P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252333 chr2 229937814 229937882 - RNU6-964P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252334 chr19 58483749 58483843 - RNU6-1337P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000252335 chr13 95019235 95019336 + RNU6-62P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252336 chr3 178429197 178429290 - RNA5SP148 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252337 chr5 106546665 106546803 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252338 chr1 75538015 75538119 - RNU6-503P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252339 chr16 71563430 71563528 - RNU6-1061P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252341 chr5 10292041 10292148 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252342 chr4 93820171 93820280 + RNA5SP164 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252343 chr4 182548659 182548779 + RNU2-34P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252346 chr2 227763052 227763152 - RNA5SP121 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252347 chr14 23259460 23259566 - RNU6-1046P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252348 chr3 101615826 101615928 + RNU6-1256P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252349 chr17 19662000 19662090 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252350 chr4 156986372 156986693 - RPPH1-3P ribozyme 0 0 0 0 0 0 0 0 0 ENSG00000252351 chr11 131385249 131385363 + RNU6ATAC12P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252352 chr17 69355133 69355218 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252353 chr18 3093568 3093629 + RNU7-25P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252355 chr11 43435132 43435397 - RN7SKP287 misc_RNA 0 0 1 7 5 2 13 7 5 ENSG00000252357 chr1 173808489 173808622 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252358 chr8 63609354 63609600 - RN7SKP135 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252361 chr11 62815966 62816067 - RNU6-118P snRNA 13 20 21 21 34 28 18 9 32 ENSG00000252362 chr4 139231026 139231119 - RNU6-506P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252363 chr17 8511125 8511188 + RNU7-43P snRNA 0 0 0 2 1 2 1 0 0 ENSG00000252364 chr12 41658676 41658793 + RNA5SP360 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252366 chr12 101472339 101472456 + RNA5SP367 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252367 chr20 5113993 5114083 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252368 chr1 37264677 37264786 - RNA5SP43 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252369 chr14 83048579 83048640 + RNU7-51P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252370 chr17 34120056 34120167 - RNA5SP438 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252371 chr1 238325687 238325788 - RNU6-725P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252373 chr5 31820564 31820638 - RNU6-358P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252374 chr7 14010669 14010763 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252376 chr15 50463381 50463498 + RNA5SP395 rRNA_pseudogene 2 4 0 7 3 0 4 9 2 ENSG00000252377 chrX 51870706 51870809 - RNU6-504P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252383 chr17 16098704 16098807 + RNU6-314P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000252385 chr13 46410454 46410557 + RNU6-68P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252386 chr20 41684986 41685091 - RNU6-1018P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252390 chr12 31594093 31594206 - RNU5F-4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252391 chr17 78696694 78696797 - RNU6-638P snRNA 17 18 18 12 24 29 12 14 14 ENSG00000252393 chr12 121604902 121605012 + RNU6-1004P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252395 chr2 88414898 88415004 - RNU6-1007P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252396 chr1 237120807 237121109 + RN7SKP195 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252397 chr13 33829539 33829649 - RNU5A-4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252398 chr3 32045873 32045979 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252400 chr14 51522864 51522967 + RNU6-1291P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252401 chr10 28652630 28652755 + RNU4ATAC6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252404 chr1 9082696 9082879 + RF00424 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252407 chr1 185434244 185434305 + RNU7-183P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252408 chr19 3521248 3521320 - RF00212 snoRNA 0 0 0 0 1 0 5 0 0 ENSG00000252409 chr3 41687868 41688033 - RF00602 scaRNA 0 1 0 0 0 0 0 0 0 ENSG00000252410 chr3 45034474 45034588 - RNU5B-3P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252411 chrX 35594173 35594273 + RNU6-1087P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252412 chr22 37013225 37013319 + RF00019 misc_RNA 0 0 0 3 5 0 4 7 9 ENSG00000252413 chr1 39723566 39723627 - RNU7-121P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252414 chr2 64578892 64578997 + RNU6-100P snRNA 12 13 18 4 3 4 8 7 0 ENSG00000252415 chr12 73679188 73679296 - RNU6-1012P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252416 chr10 42832447 42832550 - RNU6-885P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252417 chr1 15608078 15608145 - RNU7-179P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252420 chr3 61739127 61739229 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252421 chr12 31802958 31803090 - RNU6-1069P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000252422 chr20 18433842 18433944 + RNA5SP476 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252423 chr7 69401202 69401303 - RNU6-229P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252424 chr14 49552633 49552748 + RNA5SP384 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252425 chr15 34597458 34597558 - RF00425 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252426 chrY 25723342 25723495 + RNU1-107P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252427 chr11 46758766 46758873 - RF00573 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252428 chr9 72299720 72299838 - RNA5SP285 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252429 chr1 26602369 26602432 - RNU7-29P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252431 chr6 151280515 151280612 - RNU6-1247P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252433 chr1 67102645 67102779 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252436 chr2 62726636 62726740 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252437 chr18 55146546 55146645 - RNA5SP459 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252438 chr10 12415928 12416000 + RF00279 snoRNA 0 1 0 1 0 0 2 3 0 ENSG00000252441 chrX 115545637 115545717 + RF00264 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252443 chr16 69785994 69786113 - RF00091 snoRNA 0 0 0 0 0 0 2 0 0 ENSG00000252444 chr6 106304176 106304286 + RNU6-344P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252446 chr17 16691798 16691907 + RNU6-405P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252448 chr1 37884237 37884317 + RF00092 snoRNA 0 1 4 0 0 2 0 0 0 ENSG00000252449 chr3 62814382 62814491 + RNU6-139P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252450 chr1 32286452 32286561 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252451 chr4 150970671 150970782 - RNA5SP168 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252452 chr2 232782665 232782766 + RNU6-107P snRNA 0 0 1 0 1 0 0 0 0 ENSG00000252454 chrX 150228004 150228083 + MIR2114 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313839 0 0 0 0 0 0 0 0 0 ENSG00000252456 chr17 4056756 4056876 - RNA5SP434 rRNA_pseudogene 2 0 4 0 2 4 1 2 0 ENSG00000252457 chr6 49344800 49344861 - RNU7-65P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252458 chr5 159230194 159230322 + RF00263 snoRNA 0 0 0 1 0 0 0 2 0 ENSG00000252459 chr12 114737704 114737798 + RF00443 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252460 chr4 103924540 103924641 + RNU6-635P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252461 chr16 28881480 28881607 - RF00416 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252462 chr21 17431547 17431647 + RNU6-113P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252464 chr5 178619728 178619998 - RN7SKP70 misc_RNA 6 7 8 4 0 7 2 4 2 ENSG00000252466 chr3 48316360 48316459 - MIR2115 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313840 0 0 0 0 0 0 0 0 0 ENSG00000252467 chr20 51902291 51902395 + RNU6-347P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252468 chrY 5019076 5019266 + RNU2-57P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252469 chr14 103550345 103550406 + RNU7-160P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252470 chr4 107435118 107435220 + RNU6-551P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252472 chrY 7423054 7423158 - RNU6-521P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252473 chr2 39283657 39283791 - RF00272 snoRNA 0 0 0 4 0 0 0 0 0 ENSG00000252474 chr14 49839725 49839827 + RNU6-539P snRNA 0 0 2 0 0 0 0 1 0 ENSG00000252475 chr15 44962830 44962933 + RNU6-1332P snRNA 0 1 1 0 0 0 0 0 0 ENSG00000252479 chr10 31259599 31259704 + RNA5SP309 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252480 chr7 39768341 39768444 + RNU6-719P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252481 chr14 95533355 95533629 - SCARNA13 scaRNA 677768 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 1 1 2 2 0 5 0 0 0 ENSG00000252482 chr10 32173684 32173744 + RNU7-22P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252483 chr17 20894532 20894638 - RNU6-1178P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252484 chr1 224107282 224107541 - RN7SKP49 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252485 chr2 206007880 206007974 - RF00006 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252486 chrX 27252119 27252235 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252487 chr6 151298841 151298933 - RNY4P20 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252489 chr4 56288485 56288584 - RNU6-197P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252490 chr2 43772120 43772350 - RN7SKP66 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252491 chrX 26790142 26790286 + RNU1-142P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252494 chr11 78133420 78133522 - RNU6-126P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252496 chr13 79389534 79389631 - RNA5SP33 rRNA_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000252497 chr14 64909488 64909780 - RPPH1-2P ribozyme 0 0 0 0 0 0 0 0 0 ENSG00000252498 chr6 75644084 75644177 + RNU6-1016P snRNA 46 31 34 17 36 20 13 21 13 ENSG00000252499 chr13 27488138 27488232 + RNU6-63P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252501 chr1 233448626 233448781 - RNU4-77P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252503 chr4 139055475 139055578 + RNU6-531P snRNA 2 4 8 1 12 2 6 8 3 ENSG00000252505 chr8 33540040 33540137 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252506 chr1 229383128 229383188 + RNU6-180P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252507 chr2 54850289 54850352 + RNU7-81P snRNA 0 0 0 2 0 0 0 0 0 ENSG00000252508 chr13 92059844 92059969 + RNU4ATAC3P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252509 chr8 72357728 72357815 + RNA5SP271 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252510 chr1 116962347 116962471 - RNA5SP55 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252512 chr6 32078508 32078628 - RNA5SP206 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252513 chrY 17789003 17789162 - RNU1-128P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252514 chr5 130386621 130386680 - RNU7-53P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252515 chr1 148739379 148739479 + RNU6-1171P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252516 chr1 247204570 247204661 - RNA5SP82 rRNA_pseudogene 13 14 10 3 5 15 0 3 7 ENSG00000252517 chr2 194664107 194664174 - RF00273 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252519 chr11 23849778 23849882 + RNU6-783P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252521 chr9 132421641 132421690 + RNU5D-2P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252523 chr7 143754628 143754730 - RNU6-267P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252524 chr4 157064557 157064663 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252526 chr16 50151642 50151731 - RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252530 chr1 101728642 101728737 - RNU6-965P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252532 chr10 43458065 43458129 + RNU7-193P snRNA 0 1 0 0 0 0 0 0 0 ENSG00000252533 chr5 139221758 139221837 + RNU6-572P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252534 chr17 60748940 60749046 - RF00019 misc_RNA 3 0 0 0 0 4 0 2 0 ENSG00000252535 chr8 12333644 12333693 - RNA5SP254 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252537 chr10 16005808 16005923 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252539 chr19 453134 453245 + RNA5SP462 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252540 chr20 49794811 49794914 + RNU6-919P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252542 chr9 133350847 133350912 + SNORD36C snoRNA 26813 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000252544 chr4 151300518 151300613 + RNU6-1282P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252545 chr17 75031097 75031186 + RNU6-362P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252546 chr19 12070164 12070271 + RNA5SP466 rRNA_pseudogene 0 0 1 3 0 0 5 0 3 ENSG00000252548 chr4 98966815 98966873 - RNU7-149P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252549 chr20 35647328 35647430 - RNU6-759P snRNA 0 7 1 0 0 0 1 0 0 ENSG00000252550 chr13 105897523 105897643 - RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252552 chr1 174996524 174996629 + RNU6-307P snRNA 0 0 1 0 1 0 0 1 2 ENSG00000252553 chr1 189666149 189666256 - RNA5SP73 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252554 chr6 129436875 129436980 - RNU6-861P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000252555 chr18 60018625 60018731 + RNU6-567P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252556 chr11 122004355 122004451 + RNU6-256P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252558 chr8 98192205 98192313 - RNU6-914P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252560 chr6 131642818 131642966 - RNU4-18P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252561 chr16 3069523 3069651 + RNU1-125P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252562 chr3 23613661 23613759 - RNU6-922P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252563 chr1 41466937 41467028 - RNA5SP45 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252568 chr11 9843815 9843876 - RNU7-28P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252569 chr16 53443228 53443332 - RNU6-1153P snRNA 0 2 3 1 3 0 2 0 0 ENSG00000252574 chr10 109184934 109185001 - RNU5B-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252577 chr17 60231516 60231646 - SCARNA20 scaRNA 677681 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 2 6 1 1 2 0 2 3 ENSG00000252578 chr1 23163953 23164053 + RNU6-135P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252580 chr9 26796173 26796304 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252581 chr3 149525631 149525726 + RNU6-1098P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252582 chr9 131021168 131021306 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252583 chrX 147250151 147250230 - MIR514B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422847 0 0 0 0 0 0 0 0 0 ENSG00000252585 chr12 27752874 27752986 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252587 chr16 35754923 35755033 + RNA5SP422 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252590 chr7 23450658 23450722 + RNU7-143P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252591 chr19 17972025 17972117 + RNA5SP468 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252593 chr8 102533241 102533339 - RNU6-1224P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252594 chr8 46831050 46831156 + RNU6-656P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252595 chr4 42892396 42892618 + RN7SKP82 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252597 chr20 18095571 18095632 - RNU7-137P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252598 chr18 72751952 72752051 + RNA5SP460 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252599 chr2 44154789 44154895 - RNU6-566P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252601 chr5 29070496 29070610 + RF00425 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252603 chr22 41722043 41722131 - RNU6ATAC22P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252604 chr4 154790291 154790484 + RNU2-44P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252606 chr21 43996322 43996420 - RNU6-1150P snRNA 0 0 0 0 1 0 0 0 0 ENSG00000252607 chr12 60341824 60341941 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252608 chr16 81106533 81106639 - RNU6-1191P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252611 chr10 114969460 114969568 - RNU6-1121P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252612 chr1 185266535 185266627 + RF00019 misc_RNA 2 1 0 0 1 0 6 2 0 ENSG00000252614 chr15 101648206 101648312 - RNU6-807P snRNA 2 1 2 5 8 5 9 5 6 ENSG00000252615 chr6 151378000 151378099 - RF00019 misc_RNA 0 1 0 2 0 0 0 0 0 ENSG00000252618 chr17 40374089 40374176 + RNA5SP441 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252619 chr21 42417497 42417593 - RNU6-1149P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252620 chr3 195523087 195523221 - RNU6ATAC24P snRNA 11 10 24 11 15 43 31 9 20 ENSG00000252621 chr10 37303000 37303109 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252622 chr9 131126990 131127091 + RNU6-881P snRNA 2 0 0 0 0 0 0 0 0 ENSG00000252623 chr20 32008351 32008472 + RNA5SP481 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252624 chr16 35735625 35735733 + RNA5SP409 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252625 chrY 25928979 25929142 + RNU1-40P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252626 chr3 107007568 107007670 + RNU6-1308P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252627 chrX 123874459 123874565 + RNU6-122P snRNA 0 2 0 0 0 0 0 0 0 ENSG00000252628 chr17 44307088 44307172 + RNU6-453P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252633 chrY 7324297 7324595 - RN7SKP282 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252634 chr10 21785292 21785587 + RN7SKP219 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252635 chr20 18265690 18265879 - RNU2-56P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252636 chr17 49036352 49036455 + RNU6-826P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252637 chr8 67099302 67099425 + RNA5SP268 rRNA_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000252639 chr10 27193358 27193500 - RNU2-24P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252640 chr16 68630851 68630968 - RF01233 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252641 chr3 133664926 133665034 + RNU6-678P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252642 chr3 125058304 125058438 - RNA5SP137 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252643 chr7 102834605 102834708 + RNU6-1136P snRNA 3 2 0 0 0 0 0 0 0 ENSG00000252644 chr14 91091077 91091138 + RNU7-30P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252645 chr15 89897576 89897637 + RNU7-111P snRNA 0 0 1 0 0 6 0 0 0 ENSG00000252647 chr16 35751574 35751684 + RNA5SP416 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252649 chr20 31356870 31356978 + RNA5SP480 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252650 chr1 204707320 204707430 - RNA5SP75 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252651 chr3 73092148 73092257 - RNU6-557P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252652 chr11 43331261 43331356 + RF00019 misc_RNA 3 0 0 0 0 0 0 0 0 ENSG00000252653 chr17 66267743 66267848 + RNA5SP444 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252654 chr20 51904969 51905030 + RNU7-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252655 chr14 89650793 89650903 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252656 chr1 148839483 148839732 - RN7SKP88 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252657 chr17 29777619 29777744 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252658 chr6 157934168 157934257 + RNU6-786P snRNA 0 0 0 0 3 0 0 0 0 ENSG00000252659 chr12 120313238 120313341 - RNU6-1088P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252660 chr12 62935701 62935802 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252661 chr19 15145215 15145318 + RNU6-782P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252667 chrY 18348035 18348147 - RNA5SP523 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252671 chr5 10337277 10337386 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252673 chr16 35754555 35754688 + RNA5SP421 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252674 chr2 124932915 124933020 + RNA5SP102 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252677 chr18 21711950 21712119 - RF01241 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252680 chr18 9844717 9844846 - RNA5SP449 rRNA_pseudogene 2 1 8 2 9 17 8 3 6 ENSG00000252681 chrY 23740942 23741105 - RNU1-97P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252682 chr1 154288460 154288527 + RF00273 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252684 chr5 76948791 76948870 + RNU6ATAC36P snRNA 0 0 0 0 1 6 0 2 0 ENSG00000252685 chr17 66638271 66638374 + RNU6-928P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252686 chr14 29811916 29812018 + RNU6-1234P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252688 chr2 133333829 133333930 + RNU6-579P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252689 chrY 16138248 16138379 - RF00401 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252690 chr15 82752884 82757208 + AC105339.2 processed_transcript 1 1 4 4 0 3 4 0 7 ENSG00000252691 chr1 26006216 26006299 + RF00283 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252692 chr1 206080239 206080324 + RF00271 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252693 chrX 124197743 124197849 + RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252695 chr13 24162416 24162504 + MIR2276 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313842 0 0 0 0 0 0 0 0 0 ENSG00000252696 chr13 90135712 90135841 - RNA5SP34 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252697 chr6 87083233 87083536 + RN7SKP209 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252699 chr17 38851524 38851659 - SNORA21B snoRNA 109617002 0 0 0 0 0 0 0 0 0 ENSG00000252700 chr3 33414150 33414211 + RNU7-110P snRNA 1 0 0 0 0 0 0 0 0 ENSG00000252704 chr7 121736443 121736725 + RN7SKP277 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252705 chr2 132406752 132406858 - RNU6-175P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252707 chr17 12036496 12036637 - RNU11-2P snRNA 2 1 3 0 2 2 8 1 0 ENSG00000252710 chr8 48307927 48308030 - RNU6-295P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252711 chr6 47715283 47715601 + RN7SKP116 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252712 chr15 66347207 66347342 - SCARNA14 scaRNA 692149 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000252713 chr7 73507208 73507274 + RNU6-1198P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252714 chr15 40331537 40331648 - RNA5SP392 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252716 chr2 206260066 206260214 - RN7SKP260 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252717 chr1 101859851 101859957 + RNU6-352P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252718 chr2 60719640 60719741 + RNU6-612P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252719 chrX 139909904 139910034 + RF00425 snoRNA 0 0 0 0 0 0 0 1 0 ENSG00000252720 chr14 93437400 93437510 - RNU6-1258P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252721 chr9 97192923 97193025 - RNU6-798P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252722 chr15 75121536 75121666 - RF00601 scaRNA 2 9 4 0 8 0 2 6 2 ENSG00000252723 chr9 37333857 37333957 - RNU6-677P snRNA 0 0 1 0 0 0 0 0 0 ENSG00000252724 chr9 39892446 39892540 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252725 chr9 38680006 38680104 + RNU6-765P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252726 chr2 59694762 59694869 + RNA5SP94 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252727 chr12 8597509 8597640 + RF00564 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252729 chr17 43473585 43473690 + RNU6-971P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252734 chr19 53732981 53733083 - RNU6-980P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252735 chr8 33338867 33338966 + RNU6-528P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252739 chr4 102837047 102837099 - RNU7-151P snRNA 1 0 0 0 0 2 0 1 0 ENSG00000252742 chr2 128350829 128350927 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252743 chr6 31756951 31757053 - RNU6-850P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252744 chr1 148330271 148330394 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252745 chr3 142591677 142591791 - RNA5SP143 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252746 chr14 37187219 37187314 + RNU6-273P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252747 chr12 88051701 88051778 + RNA5SP364 rRNA_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000252749 chr14 63736444 63736505 + RNU7-116P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252750 chr1 112634719 112634784 - RNU7-70P snRNA 1 2 4 0 2 4 6 0 0 ENSG00000252751 chr3 124407691 124407783 + RNU6-143P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252752 chr1 93010257 93010351 + RNU6-210P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252755 chr8 98048856 98048962 + RNU6-703P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252756 chr2 36867398 36867495 - RNU6-577P snRNA 1 5 3 4 0 7 1 4 0 ENSG00000252757 chr4 86336318 86336614 - RN7SKP96 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252758 chr9 74857675 74857781 + RNU6-445P snRNA 0 0 0 0 0 0 0 1 0 ENSG00000252759 chr2 200863152 200863247 - RF00019 misc_RNA 14 24 25 49 58 65 48 32 54 ENSG00000252760 chr1 111041834 111041925 + RNA5SP54 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252761 chr6 30932618 30932709 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252762 chr4 81928313 81928439 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252763 chr3 159808416 159808570 - RNU2-31P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252764 chr8 100683488 100683574 + RNU6-1092P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252765 chr1 101133153 101133339 + RF00424 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252766 chrY 19018983 19019087 - RNU6-255P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252767 chr6 40407853 40407955 + RNU6-250P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252768 chr3 52551846 52551943 - RNU6-856P snRNA 1 0 0 3 1 0 0 1 0 ENSG00000252769 chr11 7889182 7889279 - RNU6-943P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252770 chr12 68911921 68911982 + RNU7-4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252772 chr9 92820977 92821079 + RNU6-714P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252774 chr15 64342539 64342698 + RF00554 snoRNA 0 0 3 2 3 0 0 0 0 ENSG00000252776 chr11 122449210 122449331 + RNU4ATAC10P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252777 chr1 28689665 28689794 + RF00422 scaRNA 1 0 0 0 0 0 2 0 1 ENSG00000252778 chr11 8555016 8555146 + RF00601 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252779 chr2 171856566 171856670 - RNU6-182P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252780 chr19 31655356 31655461 - RNA5SP471 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252782 chr14 58292293 58292388 - RNU6-341P snRNA 2 3 1 7 0 3 0 1 0 ENSG00000252783 chr14 87996345 87996448 - RNU6-835P snRNA 0 0 0 1 1 3 0 0 4 ENSG00000252784 chr1 63338263 63338372 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252787 chr3 52688890 52688962 + RF00569 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252794 chr5 165609441 165609679 + RN7SKP60 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252795 chr13 38779424 38779516 + RNU6-56P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252796 chr4 39621012 39621073 + RNU7-11P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252797 chr1 89987713 89987944 - RN7SKP272 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252798 chr16 21587627 21587864 + RF00478 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252800 chr14 63479272 63479413 + RF00601 scaRNA 0 0 0 1 0 0 0 0 0 ENSG00000252802 chr1 26593940 26594041 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252804 chr2 43408307 43408412 + RNU6-958P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252806 chr16 35754046 35754182 + RNA5SP420 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252807 chr2 170119996 170120098 - RNU6-1006P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252810 chrX 101915589 101915695 + RNU6-345P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252812 chr13 40407122 40407440 - RN7SKP2 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252814 chr16 76287630 76287739 + RN7SKP233 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252815 chr4 55031965 55032071 - RNU6-410P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252816 chr11 21383801 21383909 - RNA5SP337 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252820 chr7 138175045 138175136 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252821 chr7 33001950 33002054 - RNU6-388P snRNA 0 0 0 0 0 0 0 0 3 ENSG00000252822 chr1 236060677 236060772 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252823 chr12 89754059 89754152 + RNU6-148P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252824 chr7 102194076 102194164 - RF00554 snoRNA 0 0 2 0 0 0 0 0 0 ENSG00000252826 chr1 143720510 143720644 - RNU1-92P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252827 chr12 96427200 96427486 - RN7SKP11 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252828 chr3 68882967 68883091 + RNA5SP135 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252830 chr1 143439605 143439714 + RNA5SP533 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000252832 chr10 19792998 19793101 - RNU6-1212P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252833 chr5 76091708 76091801 - RNA5SP186 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252835 chr17 7906122 7906260 + SCARNA21 scaRNA 677763 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 2 6 9 1 8 5 7 2 2 ENSG00000252837 chr14 57837354 57837660 - RN7SKP99 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252839 chr14 73246818 73246880 - RNU6-419P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252840 chr1 151527831 151527938 - RF00405 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252845 chr2 96956708 96956815 - RNA5SP101 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252847 chr9 95859904 95860016 + RNU2-46P snRNA 2 3 0 1 2 8 2 0 0 ENSG00000252848 chr7 44125752 44125873 - RNA5SP230 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252850 chr12 88581639 88581796 + RNU1-117P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252852 chr8 117313528 117313661 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252854 chr13 46249942 46250213 + RN7SKP5 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252856 chrX 48206258 48206374 + RNA5SP503 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252857 chr7 55685977 55686081 + RNU6-389P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252858 chr12 76139567 76139671 + RNU6-1271P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252859 chr22 41168217 41168316 + RNU6-375P snRNA 2 1 3 5 3 11 2 0 3 ENSG00000252860 chr1 200054061 200054165 + RNU6-570P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252861 chr5 84196883 84196989 + RNU6-448P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252863 chr12 101871742 101871801 - RNU6-1183P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252864 chr8 140940562 140940663 + RNA5SP278 rRNA_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000252866 chr7 128697710 128697744 + RNA5SP243 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252867 chr5 28624657 28624763 + RNU6-909P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252868 chr15 29233868 29233979 + RF00201 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252870 chr11 115128218 115128373 - RF01293 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252872 chr7 96377857 96377920 + RNU7-188P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252874 chr11 47820200 47820289 - RF00019 misc_RNA 2 0 0 0 0 0 0 1 0 ENSG00000252877 chr10 47532352 47532467 + RNA5SP312 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252879 chr1 212099521 212099676 - RN7SKP98 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252881 chr5 104780288 104780389 - RNU6-334P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252882 chr17 43395993 43396091 - RNU6-1137P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252884 chr8 80405516 80405609 + RNU6-1213P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252886 chr12 119631090 119631386 - RN7SKP197 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252887 chr16 89443318 89443424 + RNU6-430P snRNA 0 0 0 0 1 0 1 0 0 ENSG00000252888 chr10 76835377 76835502 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252889 chr3 109225129 109225227 + RNU6-1236P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252890 chr4 66897262 66897371 + RNU6-699P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252891 chr6 89898283 89898392 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252892 chr2 64994746 64994860 + RNU6-548P snRNA 0 0 1 0 3 4 0 0 0 ENSG00000252894 chr3 130914340 130914452 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252897 chr2 82268612 82268706 + RNU6-685P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252898 chr4 173446603 173446704 - RNU6-1096P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252900 chrY 4174985 4175090 - RNU6-303P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252902 chr11 71845196 71845245 - RNA5SP342 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252903 chrX 31348192 31348296 + RNU6-894P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252904 chr5 65961183 65961319 - RF00598 snoRNA 0 0 1 0 0 4 3 0 4 ENSG00000252905 chr11 8845263 8845358 + RNA5SP330 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252906 chr1 175968398 175968540 - SCARNA3 scaRNA 677679 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 4 4 6 1 3 11 7 7 3 ENSG00000252908 chr5 17240611 17240715 + RNU6-1003P snRNA 3 2 7 5 3 10 7 5 7 ENSG00000252909 chr22 31837238 31837298 + RNU6-201P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252913 chr4 48932755 48932854 - RNU6-158P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252914 chr3 136721394 136721495 - RNU6-789P snRNA 0 0 0 1 0 0 0 0 0 ENSG00000252915 chr21 39344537 39344628 + RF00019 misc_RNA 4 3 0 5 4 2 6 5 0 ENSG00000252916 chr2 200899020 200899121 + RNU6-762P snRNA 0 5 0 1 1 1 0 0 0 ENSG00000252917 chr12 42347061 42347214 - RF00090 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252919 chr14 49592236 49592337 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252920 chr1 153012482 153012614 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252922 chr11 41122907 41123012 - RNU6-365P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252923 chr2 196686148 196686330 - RF00424 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252927 chr16 9600097 9600228 + RNA5SP404 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252928 chr13 30281765 30281869 + RNU6-64P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252929 chr7 6057500 6057604 + RNU6-218P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252930 chrX 112919132 112919230 + RNU6-1015P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252931 chr15 85821855 85821957 + RNU6-231P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252933 chr19 1616492 1616595 - RNU6-1223P snRNA 0 0 0 2 0 0 0 0 0 ENSG00000252934 chr2 54166944 54167007 - RNU7-172P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252935 chr8 78398515 78398622 - RNU6-1220P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252936 chr16 35755177 35755285 + RNA5SP423 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252937 chr3 73241789 73241896 - RNU6-1270P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252941 chr11 47804296 47804402 - RNA5SP340 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252942 chr9 99145840 99145966 - RNA5SP290 rRNA_pseudogene 0 1 1 0 4 0 2 3 0 ENSG00000252943 chr9 19073843 19073946 + RNU6-264P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252944 chr6 104766822 104766926 + RNU6-897P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252945 chr14 50844625 50844712 + RF00593 snoRNA 2 2 0 0 5 0 0 0 0 ENSG00000252947 chr1 27834401 27834566 + SCARNA1 scaRNA 677774 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 3 0 0 0 3 0 0 ENSG00000252948 chrY 26360989 26361092 + RNU6-1314P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252950 chr21 32563075 32563210 + RNA5SP490 rRNA_pseudogene 0 0 0 0 0 0 2 1 1 ENSG00000252951 chr4 147745303 147745417 - RNA5SP165 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252952 chr13 23217432 23217534 - RNU6-58P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252953 chr3 125388934 125388997 + RNU6-232P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252955 chr4 72965178 72965303 + RNU4ATAC9P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252956 chr1 9437669 9437778 - RNA5SP40 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252957 chr15 100074081 100074190 - RNA5SP402 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252959 chr4 166053187 166053287 - RNA5SP170 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252960 chr9 18651147 18651450 + RN7SKP258 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252962 chr19 2503047 2503141 - RNU6-993P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252963 chr21 20356653 20356896 + RN7SKP147 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252964 chr15 86138269 86138379 - RNA5SP400 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252965 chr3 125528244 125528349 - RF00019 misc_RNA 10 5 1 2 11 6 5 5 5 ENSG00000252969 chr1 12221148 12221271 - RF00156 snoRNA 0 0 4 3 6 6 2 12 3 ENSG00000252970 chr4 39936753 39936855 + RNA5SP159 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252971 chr17 20290257 20290358 + RNU6-1057P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252973 chr19 19232855 19232947 + RNU6-1028P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252975 chr4 39710085 39710176 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252977 chr1 181771566 181771644 + RNA5SP70 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252978 chrX 20452108 20452431 + RN7SKP183 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252979 chr19 53766534 53766632 - RNU6-165P snRNA 0 0 0 0 0 0 1 2 0 ENSG00000252980 chr3 44071087 44071186 + RNU6-367P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252982 chr3 174057641 174057864 + RN7SKP234 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000252983 chr7 43194421 43194482 + RNU7-35P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252984 chr15 57405074 57405175 - RNU6-844P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252985 chr9 126426893 126426970 + RF00108 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252987 chr1 169067264 169067364 + RNA5SP66 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000252988 chr2 73298683 73298787 + RNU6-111P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252989 chr3 100646121 100646197 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000252990 chr6 39620345 39620464 - RNU1-54P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252991 chr9 1001858 1001963 - RNU6-1073P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252992 chr11 117263799 117263952 + RF00564 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000252993 chr10 92076242 92076365 + RF00402 snoRNA 0 0 0 0 0 0 2 0 0 ENSG00000252994 chr10 102803929 102804031 + RNU6-1231P snRNA 2 0 0 1 1 5 0 0 0 ENSG00000252995 chr15 79817349 79817450 - RNU6-667P snRNA 0 0 0 1 0 0 3 0 3 ENSG00000252996 chr12 2954240 2954338 - RNU6-1315P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252998 chr10 2098167 2098269 + RNU6-889P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000252999 chr14 20090130 20090227 + RNA5SP380 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253000 chr4 178116721 178116861 - RNU1-45P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253001 chr4 163828800 163829113 - RN7SKP105 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253003 chr14 34675891 34675994 + RNU6-1261P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253005 chr1 28142737 28142841 - RNU6-176P snRNA 12 11 13 10 17 11 10 13 33 ENSG00000253006 chr2 229236340 229236609 - RN7SKP283 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253007 chr22 33704786 33704920 - SNORA50B snoRNA 109616998 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000253008 chr2 207109987 207110073 - MIR2355 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423036 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1903588, GO:0090051, GO:0035195, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, gene silencing by miRNA, 1 5 3 3 5 1 1 6 9 ENSG00000253010 chr6 53415294 53415607 - RN7SKP256 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253013 chr4 186130021 186130155 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000253015 chr5 139333038 139333365 - RN7SKP64 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253016 chr12 38274448 38274549 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253019 chr4 151576766 151576916 + RN7SKP35 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253020 chr3 174631823 174632064 + RN7SKP40 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253021 chr19 44085213 44085303 - RNU6-902P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253022 chr1 6540854 6540964 + RNU6-731P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253023 chr5 143542514 143542587 - RNU7-156P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253024 chr11 67395210 67395311 - RNU6-1238P snRNA 0 0 0 43 35 37 55 20 28 ENSG00000253025 chr1 176243862 176244029 - RNU2-12P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253026 chr6 53153795 53153898 - RNU6-464P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253027 chr19 44764950 44765100 + RF00156 snoRNA 0 0 0 0 3 3 0 0 0 ENSG00000253028 chr7 52269437 52269569 - RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000253030 chr15 59171183 59171262 - MIR2116 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313886 0 0 0 0 2 0 0 0 0 ENSG00000253031 chr9 103689473 103689577 - RNA5SP291 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253032 chr5 56125671 56125770 + RNU6-299P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253035 chr11 122451474 122451599 + RNU4ATAC5P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253038 chr18 39034007 39034110 + RNU6-706P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253039 chr1 44932323 44932431 + RNA5SP47 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253040 chr18 42270589 42270715 + RNA5SP454 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253041 chr9 101322477 101322533 + RF00322 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000253042 chr1 202527310 202527427 - RF00156 snoRNA 4 3 1 0 3 2 3 1 3 ENSG00000253043 chr8 130004528 130004601 - RNU7-181P snRNA 6 8 0 9 11 5 7 6 16 ENSG00000253047 chr1 150600539 150600659 - RF00561 snoRNA 6 4 7 1 4 7 7 1 8 ENSG00000253048 chr19 42472875 42473009 + RNU4-60P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253049 chr3 3102913 3103015 + RF00416 snoRNA 0 0 0 0 0 0 0 0 1 ENSG00000253051 chr13 45336314 45336447 - RF00322 snoRNA 109616966 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000253053 chr12 53816185 53816479 + RN7SKP289 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253054 chr10 35135443 35135502 + RNU7-77P snRNA 0 0 0 4 0 0 2 0 4 ENSG00000253055 chr16 35750061 35750175 + RNA5SP415 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253056 chr3 48180328 48180389 + RNU7-128P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253057 chr5 111719769 111720061 - RN7SKP57 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253058 chr17 31963805 31963933 - RNA5SP437 rRNA_pseudogene 0 0 2 0 3 0 0 0 0 ENSG00000253059 chr14 35756327 35756463 + RF00322 snoRNA 0 0 0 2 0 0 0 0 0 ENSG00000253060 chr1 171768070 171768175 + RF00601 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000253063 chr12 32477382 32477471 - RNU6-494P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253064 chr17 29424762 29424867 - RNU6-711P snRNA 0 1 0 0 1 4 0 0 0 ENSG00000253065 chr5 168033091 168033205 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000253066 chr10 114111414 114111517 + RNU6-709P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253067 chr5 132080066 132080133 + RF00285 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000253070 chr10 35231331 35231394 - RNU6-794P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253072 chr11 15481808 15481893 - RF00324 snoRNA 0 0 0 0 1 0 1 0 0 ENSG00000253073 chr5 83685866 83686018 + RN7SKP295 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253074 chr1 67196140 67196243 + RNU6-586P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253075 chr14 100487544 100487787 + RN7SKP92 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253077 chr4 151971497 151971613 - RNA5SP169 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253078 chr2 37435510 37435608 - RNU6-1116P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253079 chr9 126408041 126408410 - NRON misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253080 chr12 111339527 111339621 + RNA5SP373 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253081 chr3 8364529 8364648 - RNU4ATAC17P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253083 chr2 147713455 147713554 - RNA5SP106 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253084 chr17 35093909 35093973 + RNU6-840P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253085 chr1 13696070 13696199 - RF00564 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000253086 chr1 11152350 11152452 + RNU6-537P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253087 chr3 134780527 134780627 - RNU6-1174P snRNA 5 10 9 8 9 22 12 20 5 ENSG00000253088 chr7 152402780 152402893 + RF00019 misc_RNA 0 2 0 0 0 6 0 0 0 ENSG00000253089 chr12 127321355 127321529 + RNU1-104P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253090 chr6 107985659 107985773 - RF00045 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000253092 chr3 183452567 183452764 + RF01241 snoRNA 0 0 0 0 3 0 0 0 0 ENSG00000253093 chr5 16853994 16854114 + RNA5SP179 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253094 chr13 22803145 22803224 + RF00049 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000253096 chr14 103725728 103725825 - RF00019 misc_RNA 1 1 2 0 1 2 0 0 0 ENSG00000253097 chr1 205566716 205566799 + RNU2-19P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253098 chr5 40911067 40911128 - RNU7-161P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253099 chr11 111383092 111383219 + RNU2-60P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000253100 chr8 25685798 25687524 + AC009623.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253102 chr17 50396438 50397888 + AC004707.1 antisense 100 96 94 43 30 84 41 60 47 ENSG00000253103 chr8 111098961 111236203 - LINC01609 lincRNA 101927487 0 0 0 0 0 0 0 0 0 ENSG00000253104 chr5 22139247 22141468 - AC139497.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253105 chr8 96371865 96387438 - AP003548.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253106 chr8 124488510 124491643 + AC090198.1 antisense 30 44 26 31 38 51 29 14 43 ENSG00000253107 chr8 110555408 110556518 + AC090819.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253108 chr8 34228439 34346731 + AC090993.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253109 chr5 174039751 174040240 - RPL12P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253110 chr5 171773652 171774739 + AC011410.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253111 chr8 125466939 125541373 + AC091114.1 lincRNA 8 7 5 4 6 7 3 3 12 ENSG00000253112 chr8 30596914 30597532 + AC102945.1 antisense 1 0 1 0 4 3 5 4 1 ENSG00000253114 chr8 54696398 54697127 + AC090151.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253115 chr8 74103516 74106744 + AC087672.1 lincRNA 0 1 1 0 0 0 2 0 0 ENSG00000253116 chr8 58091442 58106294 - AC027698.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000253117 chr8 132024220 132059380 - OC90 protein_coding 729330 GO:0031012, GO:0005575, extracellular matrix, cellular_component, GO:0005509, GO:0004623, GO:0003674, calcium ion binding, phospholipase A2 activity, molecular_function, GO:0050482, GO:0045299, GO:0016042, GO:0008150, GO:0006644, arachidonic acid secretion, otolith mineralization, lipid catabolic process, biological_process, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000253118 chr8 92351912 92352148 - AC022695.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253119 chr5 154337471 154338452 - HNRNPA3P7 processed_pseudogene 0 2 0 1 0 0 0 0 0 ENSG00000253120 chr22 22580014 22580296 + IGLV2-34 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253121 chr8 63024372 63025294 + AC120042.2 antisense 0 2 0 0 0 0 0 0 0 ENSG00000253122 chr8 110609241 110632394 + AC025366.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253123 chr8 37326575 37331984 - AC091182.1 processed_transcript 100507403 0 0 0 0 0 0 2 1 0 ENSG00000253124 chr8 71448811 71449219 - TRAPPC2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253125 chr8 22690150 22798616 + AC055854.1 processed_transcript 353 411 453 152 286 294 201 201 332 ENSG00000253126 chr22 22198560 22199011 + IGLVI-56 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253127 chr2 89887022 89887247 + IGKV2D-36 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253130 chr8 8561391 8569688 + AC114550.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253131 chr14 106609762 106610196 - IGHV7-56 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253132 chr14 106643142 106643585 - IGHV3-62 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253133 chr8 41534155 41578368 - AC009630.1 antisense 1 4 4 0 3 2 3 6 9 ENSG00000253134 chr5 158275711 158278813 + AC025437.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253135 chr8 42128774 42129249 - AC103724.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253137 chr8 84678798 84679842 + AC092709.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253138 chr8 66192093 66197315 + LINC00967 lincRNA 100505659 0 0 0 0 0 0 0 0 0 ENSG00000253139 chr8 56536758 56540497 - AC013644.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253140 chr8 48515852 48517089 - AC026904.1 lincRNA 0 0 0 0 0 1 0 1 0 ENSG00000253141 chr5 173463500 173484584 + AC008632.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253142 chr8 22895434 22897813 - AC037441.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253143 chr8 70471112 70480623 - AC022730.3 lincRNA 0 0 0 0 2 0 0 1 0 ENSG00000253144 chr5 179082680 179083194 - AC104117.2 processed_pseudogene 1 0 0 2 0 9 2 4 12 ENSG00000253146 chr5 154559308 154560440 - CIR1P1 processed_pseudogene 9 12 15 5 0 3 1 2 1 ENSG00000253147 chr8 20953127 20968904 + AC015468.1 lincRNA 102467222 0 0 0 0 0 0 0 0 0 ENSG00000253148 chr1 192316992 192367285 + RGS21 protein_coding Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM, Nov 2008]. 431704 GO:0005886, plasma membrane, GO:0003924, GTPase activity, GO:0009968, GO:0007186, negative regulation of signal transduction, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000253149 chr14 106329432 106329684 - IGHVII-28-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253152 chr22 22738944 22739187 + IGLV3-17 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253153 chr8 101562008 101562488 - AP001207.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253154 chr8 85833377 85951083 + AC100801.1 processed_transcript 0 0 1 0 1 0 0 0 0 ENSG00000253155 chr5 157422439 157422873 + AC008676.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253156 chr8 111621458 111621797 - AC022360.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253158 chr2 89252211 89252736 - IGKV3-31 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253159 chr5 141430589 141512979 + PCDHGA12 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 26025 GO:0005911, GO:0005887, cell-cell junction, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000253160 chr8 39309909 39310443 - AC105185.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253161 chr8 37421341 37554183 - LINC01605 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253162 chr8 3373353 3375226 - AC026991.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253163 chr5 179377531 179378761 - AC109479.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253164 chr8 20350210 20372769 + AC023403.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253165 chr8 133775551 133777352 - AC090821.1 lincRNA 101927798 0 0 0 0 0 0 0 0 0 ENSG00000253166 chr8 202660 202897 - AC131281.1 unprocessed_pseudogene 0 0 0 1 1 0 0 2 0 ENSG00000253167 chr8 125040684 125044989 + WASHC5-AS1 antisense 12 26 23 14 15 17 20 15 9 ENSG00000253168 chr8 17703988 17706187 + AC124069.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253169 chr14 106671772 106672073 - IGHVII-65-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253170 chr4 97120701 97135059 + AC108515.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253171 chr8 87974165 88019113 + AC037450.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253172 chr5 173144162 173145039 - AC008378.1 antisense 0 2 2 2 0 1 0 0 9 ENSG00000253173 chr8 70103798 70104179 - H2AFZP2 processed_pseudogene 0 0 0 0 1 3 0 0 1 ENSG00000253174 chr8 41540381 41545044 - AC009630.2 antisense 17 11 28 8 12 10 7 1 26 ENSG00000253175 chr8 94565036 94565715 + AC023632.1 processed_pseudogene 0 0 0 0 1 0 0 2 0 ENSG00000253176 chr8 27838477 27840382 + AC104997.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253177 chr8 92668836 92679594 + AC104211.1 lincRNA 101926956 0 0 0 0 0 0 0 0 0 ENSG00000253178 chr8 20551201 20551405 + AC022559.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253179 chr11 14907518 14907986 + CALCP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253180 chr8 99003407 99003842 - AC104986.1 processed_pseudogene 0 2 2 0 0 0 0 0 0 ENSG00000253181 chr8 37717579 37733756 + AC138356.3 antisense 0 0 1 0 3 0 0 0 0 ENSG00000253182 chr8 29548171 29564341 + AC084026.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000253183 chr7 139502453 139503812 + AC005531.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253184 chr8 16604255 16664879 + AC011586.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253186 chr8 43253732 43254089 + AC022616.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253187 chr7 27168619 27171915 + HOXA10-AS antisense 100874323 GO:0035195, gene silencing by miRNA, 1 0 1 0 0 0 0 0 0 ENSG00000253188 chr7 142487863 142488295 + TRBV6-7 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000253189 chr8 6036433 6036974 - AC079054.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253190 chr8 66112667 66115207 + AC084082.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000253191 chr2 89928422 89928867 + IGKV1D-32 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253194 chr6 118934770 119182745 + AL137009.1 antisense 294 176 175 256 223 223 244 155 106 ENSG00000253195 chr8 43542076 43544057 + AC134698.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253196 chr8 142763116 142766427 + AC083841.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253197 chr8 92882984 92965645 + AC117834.1 antisense 0 0 1 4 1 0 0 0 0 ENSG00000253198 chr8 43674270 43674591 - AC139365.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253199 chr8 20973797 20995119 + LINC02153 lincRNA 286114 0 0 0 0 0 0 0 0 0 ENSG00000253200 chr8 22613908 22616657 - AC037459.3 antisense 489 505 752 399 403 576 396 351 341 ENSG00000253202 chr2 89192500 89192752 - IGKV3-25 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253203 chr5 69639459 69679259 - GUSBP3 transcribed_unprocessed_pseudogene 0 1 1 1 1 0 0 4 3 ENSG00000253204 chr8 30921060 30921335 + AC090281.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253205 chr8 63384839 63470205 - AC011124.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253206 chr8 49536386 49554414 - AC090155.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253207 chr8 113600310 113616958 + AC103993.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253208 chr8 26547669 26548463 + AC015743.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253209 chr14 106666092 106666532 - IGHV3-65 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253210 chr8 141126044 141129961 - AC040970.1 antisense 132 103 148 95 67 98 146 93 100 ENSG00000253213 chr5 171251866 171252982 + AC010306.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253214 chr8 81154279 81164599 + AC079209.1 lincRNA 60 50 71 181 228 186 202 153 151 ENSG00000253215 chr8 17882043 17882661 + AC087273.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253216 chr8 69446057 69446260 + AC022790.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253217 chr8 100337595 100350707 + AP001574.1 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000253218 chr5 172254418 172255439 - KLF3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253219 chr5 170140664 170141940 - KRT18P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253220 chr8 126497385 126500440 + AC084116.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253223 chr8 66984135 66986187 - AC110998.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000253224 chr5 109884610 109885423 - PGAM5P1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000253225 chr8 129250967 129251138 + AC103833.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253226 chr8 72618722 72619383 - HAUS1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253227 chr8 124271683 124277584 + AC090192.2 lincRNA 0 0 0 0 0 7 0 0 0 ENSG00000253228 chr8 107983116 107983965 + NRBF2P4 processed_pseudogene 0 0 1 0 1 0 1 0 0 ENSG00000253229 chr8 75302296 75302574 + HIGD1AP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253230 chr8 9900064 9905366 - LINC00599 lincRNA 157627 0 1 0 0 0 0 0 0 0 ENSG00000253231 chr8 64331927 64332152 + COX6CP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253232 chr8 33523154 33523291 + AC091144.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253233 chr8 39867436 39867812 - AP005902.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253234 chr22 22856762 22857038 + IGLV2-5 IG_V_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000253235 chr8 73368770 73369295 - AC111149.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253236 chr5 164448422 164467402 - LINC02143 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253237 chr8 80351132 80351416 + AC034114.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253238 chr8 80265927 80484316 + AC034114.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253239 chr22 22026076 22026593 + IGLVI-70 IG_V_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000253240 chr14 106392774 106393231 - IGHV3-36 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253241 chr14 106566117 106566555 - IGHV3-50 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253242 chr22 22075366 22075666 + IGLVIV-64 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253244 chr5 174056060 174056585 - AC113423.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253245 chr11 103407441 103408376 - MTND1P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253247 chr14 106827869 106828163 - IGHV3-76 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253250 chr8 90958637 90985257 - C8orf88 protein_coding 100127983 GO:0005737, cytoplasm, GO:0008190, eukaryotic initiation factor 4E binding, GO:0045947, negative regulation of translational initiation, 4 9 12 15 33 21 18 23 21 ENSG00000253251 chr5 65624765 65630891 + SHLD3 protein_coding 112441434 GO:0035861, GO:0005694, site of double-strand break, chromosome, GO:0005515, protein binding, GO:2001034, GO:2001034, GO:2000042, GO:2000042, GO:0045830, GO:0045830, GO:0006281, positive regulation of double-strand break repair via nonhomologous end joining, positive regulation of double-strand break repair via nonhomologous end joining, negative regulation of double-strand break repair via homologous recombination, negative regulation of double-strand break repair via homologous recombination, positive regulation of isotype switching, positive regulation of isotype switching, DNA repair, 11 11 9 6 13 13 1 14 30 ENSG00000253252 chr8 9180251 9182519 - AC022784.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253256 chr5 159209921 159248796 + AC134043.1 antisense 0 0 2 0 0 3 8 0 0 ENSG00000253257 chr8 13353401 13353530 - MTND4P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253258 chr8 123181638 123182788 - AC068228.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253259 chr8 130892070 130892785 - AC103726.1 sense_intronic 0 0 0 3 0 0 0 0 0 ENSG00000253260 chr8 59561327 59593701 - AC087664.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253261 chr5 154993598 154994445 + AC008410.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253262 chr8 5072645 5072869 - AC019176.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253263 chr8 102891876 102893608 + AP003354.1 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000253265 chr2 89078010 89078784 - IGKV2-14 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253266 chr8 141055290 141060596 + AC100860.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253267 chr8 1565509 1622417 - DLGAP2-AS1 antisense 100507435 0 0 0 0 0 0 0 0 0 ENSG00000253269 chr5 169772966 169779365 - AC008680.1 antisense 12 7 13 40 43 43 51 32 38 ENSG00000253270 chr8 19678572 19688934 + AC090541.1 lincRNA 1 2 1 3 0 0 4 0 0 ENSG00000253271 chr8 117055818 117056145 + AC027419.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253273 chr8 73831143 73831947 + AC022826.1 unprocessed_pseudogene 0 0 3 3 6 1 0 1 0 ENSG00000253274 chr14 106680603 106681042 - IGHV1-67 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253275 chr8 31497423 31498612 + AC068672.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253276 chr7 106656765 106660996 - CCDC71L protein_coding 168455 GO:0045600, GO:0044255, positive regulation of fat cell differentiation, cellular lipid metabolic process, 1202 918 1283 316 468 476 530 526 498 ENSG00000253278 chr2 89019992 89020686 - IGKV2-10 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253279 chr8 29921513 29953724 + LINC02209 lincRNA 286135 0 0 0 0 0 0 0 0 0 ENSG00000253280 chr8 19254241 19257334 - AC068880.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253281 chr8 58255771 58272119 - AC092819.1 processed_transcript 101929528 0 0 0 0 0 0 0 0 0 ENSG00000253282 chr8 101287445 101293783 + AP001330.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253283 chr8 85086615 85087186 + AC091175.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253284 chr12 19147074 19154659 + AC092828.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253286 chr8 123614225 123658570 + AC090193.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253287 chr8 71779605 71792875 - AC104012.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000253288 chr8 137809444 138083570 - AC046195.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253290 chr8 27903229 27903495 - AC069113.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253291 chr7 142511626 142512127 + TRBV7-7 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000253292 chr8 86593755 86594589 - MIOXP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253293 chr7 27170591 27180261 - HOXA10 protein_coding In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the downstream homeobox A9 (HOXA9) gene. [provided by RefSeq, Mar 2011]. 3206 GO:0005737, GO:0005667, GO:0005634, GO:0005634, GO:0000785, cytoplasm, transcription regulator complex, nucleus, nucleus, chromatin, GO:1990837, GO:0042826, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, histone deacetylase binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060065, GO:0045944, GO:0030326, GO:0009954, GO:0009952, GO:0008584, GO:0007338, GO:0007283, GO:0007275, GO:0006357, GO:0001501, uterus development, positive regulation of transcription by RNA polymerase II, embryonic limb morphogenesis, proximal/distal pattern formation, anterior/posterior pattern specification, male gonad development, single fertilization, spermatogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, skeletal system development, 0 0 0 0 2 0 0 0 0 ENSG00000253294 chr14 106440950 106441007 - IGHVII-40-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253295 chr5 172758226 172762556 + AC022217.2 antisense 101928093 4 7 4 37 41 21 19 17 37 ENSG00000253297 chr5 148644687 148646390 - AC008627.1 sense_intronic 0 0 0 4 0 0 0 0 0 ENSG00000253298 chr5 159448556 159466276 - LINC01845 lincRNA 285627 0 0 0 0 0 0 0 0 0 ENSG00000253299 chr8 100165226 100165478 - AC025647.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253300 chr8 20655691 20700134 - AC018541.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253301 chr8 57142689 57240298 + LINC01606 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253302 chr8 73420004 73441526 + STAU2-AS1 antisense 100128126 0 0 0 0 0 0 0 0 0 ENSG00000253303 chr14 106879563 106879812 - IGHVIII-82 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253304 chr1 29119428 29123935 - TMEM200B protein_coding 399474 GO:0016021, integral component of membrane, 380 444 510 262 428 379 317 303 263 ENSG00000253305 chr5 141408021 141512979 + PCDHGB6 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56100 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 1 5 0 0 0 ENSG00000253307 chr8 141252286 141253292 - AC011676.1 antisense 152 122 178 119 102 152 159 107 104 ENSG00000253308 chr7 27239243 27241228 - AC004080.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253309 chr13 51335773 51364735 + SERPINE3 protein_coding 647174 GO:0005615, extracellular space, GO:0004867, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 39 53 53 32 45 56 32 25 29 ENSG00000253310 chr14 106831767 106832052 - IGHVIII-76-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253311 chr5 159698586 159937766 - LINC01847 antisense 101927766 0 0 0 0 0 0 0 0 0 ENSG00000253312 chr8 43251711 43251858 + AC022616.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253313 chr1 43281883 43285617 - C1orf210 protein_coding 149466 GO:0055037, GO:0016021, GO:0005886, GO:0005769, recycling endosome, integral component of membrane, plasma membrane, early endosome, 0 0 0 0 0 0 0 0 0 ENSG00000253314 chr8 46822237 46854307 + LINC00293 lincRNA 497634 1 0 0 0 0 0 0 1 0 ENSG00000253315 chr5 159227715 159245127 + LINC01932 lincRNA 105377682 2 0 1 7 3 16 11 3 4 ENSG00000253317 chr8 72196334 72202269 + AC078906.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253318 chr8 105194990 105196969 - TMCC1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253319 chr8 43511820 43512033 - AC134698.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253320 chr8 102864280 103001684 + AZIN1-AS1 antisense 80 118 465 52 130 539 171 148 622 ENSG00000253321 chr5 90353037 90356609 - AC099554.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253322 chr8 57594166 57805029 - AC104051.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253325 chr14 106377300 106377733 - IGHV7-34-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253326 chr1 243054861 243056394 - AL606534.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253327 chr8 116874424 116876868 + RAD21-AS1 antisense 644660 231 229 308 39 40 82 85 69 80 ENSG00000253328 chr8 102242040 102242619 - SUMO2P19 unprocessed_pseudogene 182 107 190 158 176 186 196 139 171 ENSG00000253329 chr22 22618572 22619163 + IGLV3-30 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253330 chr8 47511034 47512141 - AC024451.2 processed_pseudogene 2 6 4 3 5 0 3 4 1 ENSG00000253331 chr5 164119098 164234097 - AC008662.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253332 chr8 39860219 39860525 + AP005902.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253333 chr5 70495100 70500903 - AC146944.3 unprocessed_pseudogene 0 0 0 0 6 7 0 0 0 ENSG00000253334 chr8 81791823 81815714 + AC132219.1 antisense 10 3 7 10 6 2 3 5 2 ENSG00000253335 chr8 18989279 19000952 + AC009884.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253336 chr8 123288355 123290503 + AC018992.1 processed_pseudogene 1 0 0 0 3 4 2 0 0 ENSG00000253338 chr22 22661299 22661542 + IGLV3-29 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253339 chr8 73358913 73362788 + AC111149.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253340 chr8 50859530 50860062 + AC087272.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253341 chr8 74603244 74604244 - AC115837.1 processed_pseudogene 5 4 5 5 3 2 1 10 2 ENSG00000253342 chr8 25776679 25777456 + AC009623.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253343 chr8 8555738 8560965 - AC114550.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253344 chr8 37626015 37674387 - AC137579.1 antisense 0 0 0 0 0 3 0 0 0 ENSG00000253345 chr14 106263362 106263626 - IGHVII-22-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253346 chr8 30331961 30332277 - AC109329.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253347 chr17 47409322 47423526 - AC040934.1 antisense 0 0 1 0 0 0 0 0 4 ENSG00000253348 chr5 170747047 170788650 - AC008514.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253349 chr8 89823548 89823802 - COX6B1P6 processed_pseudogene 1 0 0 0 1 0 0 0 0 ENSG00000253351 chr8 95207007 95216374 - LINC01298 lincRNA 619344 0 0 0 0 0 0 0 0 0 ENSG00000253352 chr22 30969245 30979395 + TUG1 bidirectional_promoter_lncRNA 3218 3626 4023 5171 7359 7511 5062 4090 4927 ENSG00000253354 chr8 40370028 40401848 + AC105999.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253355 chr8 101128987 101133486 + AP003469.1 processed_transcript 0 0 0 1 0 0 0 0 0 ENSG00000253356 chr8 38148741 38163772 + AC084024.3 antisense 28 28 32 26 27 14 18 30 21 ENSG00000253357 chr5 167721363 167729124 + AC008708.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253358 chr8 91016588 91018655 + AC087439.1 antisense 94 94 118 81 142 152 95 167 139 ENSG00000253359 chr14 106396676 106397114 - IGHV3-37 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253361 chr8 38543652 38560877 - AC069120.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253362 chr8 84163449 84164564 - AC012400.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253363 chr8 36537391 36779164 - AC090809.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253364 chr14 105647924 105649057 - AL928742.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253365 chr2 90010741 90011184 + IGKV1D-22 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253366 chr5 70751184 70795914 + AC139272.1 unprocessed_pseudogene 0 0 0 1 1 2 0 0 0 ENSG00000253367 chr14 106293568 106293808 - IGHVIII-25-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253368 chr1 26993707 27000898 + TRNP1 protein_coding 388610 GO:0005634, GO:0005634, GO:0000791, nucleus, nucleus, euchromatin, GO:0003677, DNA binding, GO:0061351, GO:0051726, GO:0042127, GO:0021696, GO:0007049, neural precursor cell proliferation, regulation of cell cycle, regulation of cell population proliferation, cerebellar cortex morphogenesis, cell cycle, 0 0 0 0 0 0 0 0 0 ENSG00000253369 chr8 53395211 53395946 - AC131902.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253370 chr5 156458398 156458507 - AC027308.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253372 chr8 122807746 122816517 + AC016405.1 sense_intronic 15 16 37 41 52 78 44 33 58 ENSG00000253373 chr8 69175579 69178189 - AC021785.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253374 chr8 81521618 81533275 + AC023644.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253376 chr8 57889576 57890809 - AC012103.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253377 chr8 31275596 31384279 + AC068672.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253380 chr8 49496763 49512180 - AC090155.2 lincRNA 100507464 0 0 0 0 0 0 0 0 0 ENSG00000253381 chr8 40104169 40107935 + AC087518.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253382 chr8 102621509 102622331 - POU5F1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253383 chr8 73590574 73590883 + AC100784.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253384 chr8 18088569 18089687 - AC124242.2 processed_pseudogene 0 4 2 0 4 0 0 1 0 ENSG00000253385 chr8 102854455 102856075 + AP003696.1 lincRNA 0 1 0 5 5 3 12 4 1 ENSG00000253386 chr14 106564375 106564598 - IGHVII-49-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253387 chr14 106039666 106039764 - IGHVIII-5-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253388 chr8 37480089 37480809 + AC124067.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253389 chr8 41660991 41665566 + AC113133.1 antisense 1 1 0 0 0 0 0 0 0 ENSG00000253390 chr8 23458601 23484971 + AC104561.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253391 chr8 79520145 79520649 + AC100870.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253392 chr19 2915146 2926807 - AC119403.1 antisense 3 0 0 0 1 0 0 0 0 ENSG00000253393 chr8 33039523 33039793 + RANP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253394 chr8 90221488 90569318 + LINC00534 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000253395 chr8 101122145 101126158 - AP003469.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253396 chr8 41435298 41440419 + AC016868.1 lincRNA 105379391 0 0 0 0 0 0 0 0 0 ENSG00000253397 chr8 27904481 27910310 + AC069113.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253398 chr8 119419910 119462350 - AC021733.1 antisense 1 1 0 0 0 0 0 0 0 ENSG00000253399 chr4 1358479 1359461 + AC078852.1 sense_intronic 1 2 3 0 0 0 0 1 0 ENSG00000253400 chr9 26801733 26805862 + AL356133.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253401 chr8 87575598 87576508 - VTA1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253403 chr5 161687347 161689408 - AC091944.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253404 chr5 138744434 138753309 - AC034243.1 antisense 105379194 0 0 0 0 0 0 0 0 0 ENSG00000253405 chr7 27241429 27247229 - EVX1-AS antisense 101410536 0 0 0 0 0 0 0 0 0 ENSG00000253406 chr5 149216523 149276805 - AC012613.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253407 chr8 131130388 131144881 - AC087341.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253408 chr8 42233675 42271197 - AC083973.1 antisense 0 0 1 16 6 0 15 1 8 ENSG00000253409 chr7 142455174 142455635 + TRBV7-4 TR_V_gene 0 0 0 2 1 0 0 0 3 ENSG00000253410 chr8 123192875 123192932 + AC068228.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253412 chr14 106142287 106142577 - IGHVIII-13-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253413 chr8 59760047 59760263 + AC107934.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253414 chr8 37516410 37517021 - AC124067.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253415 chr8 98904603 98905671 - AC016877.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253416 chr8 76904591 76913399 + AC023200.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253417 chr5 160931778 160938626 - LINC02159 lincRNA 285629 0 0 0 0 0 0 0 0 0 ENSG00000253418 chr8 43513643 43514421 + SNX18P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253420 chr8 105662352 105685765 - AC103853.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253421 chr8 142858354 142858797 + ZNHIT1P1 processed_pseudogene 0 0 1 0 0 0 2 0 0 ENSG00000253422 chr5 158078099 158078764 - AC008677.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253423 chr8 83200952 83202431 - AC090132.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253424 chr5 158256137 158258436 + AC025437.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253425 chr8 46549089 46550802 + HSPA8P13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253427 chr8 126474189 126492596 + AC084116.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253428 chr5 173689459 173705849 + LINC01942 lincRNA 105377736 0 0 0 0 0 0 0 0 0 ENSG00000253429 chr8 94708952 94709244 - AP005660.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253430 chr8 26422593 26423929 + AC011726.2 sense_intronic 1 0 0 0 1 0 0 0 0 ENSG00000253431 chr8 62863082 62864181 - SRPK2P processed_pseudogene 0 1 2 2 1 0 0 0 0 ENSG00000253432 chr8 139096305 139102830 - AC027541.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253433 chr8 134838069 134842637 + NCRNA00250 lincRNA 552853 0 0 0 2 0 0 1 0 3 ENSG00000253434 chr8 111376639 111756826 + LINC02237 lincRNA 105375706 0 0 0 0 0 0 0 0 0 ENSG00000253435 chr2 88931666 88932380 - IGKV2-4 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253437 chr8 38122374 38122480 + RNU6-988P snRNA 1 2 0 0 1 0 0 0 0 ENSG00000253438 chr8 126556323 127419050 + PCAT1 antisense This gene produces a long non-coding RNA that promotes cell proliferation and is upregulated in prostate, colorectal, and other cancers. This RNA negatively regulates the BRCA2 tumor suppressor protein and positively regulates Myc oncoprotein. It contains binding sites for microRNAs, and may act as a sponge for microRNAs that regulate cell growth pathways. [provided by RefSeq, Dec 2017]. 100750225 8 4 12 33 3 11 26 9 28 ENSG00000253439 chr5 173085342 173086210 - CDC42P5 processed_pseudogene 8 5 6 173 181 178 202 145 120 ENSG00000253440 chr14 106369107 106369546 - IGHV3-33-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253441 chr14 106289029 106289479 - IGHV3-25 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253444 chr8 2493876 2512580 - AC245519.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253445 chr5 172690454 172697720 - AC027309.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000253447 chr5 174081506 174086618 - AC113423.2 antisense 0 0 0 0 1 0 0 0 0 ENSG00000253448 chr22 22850375 22850624 + IGLV3-6 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253449 chr5 158225352 158234376 - AC025437.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253451 chr22 22664473 22664907 + IGLV2-28 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253452 chr8 35862123 35970665 + AC100818.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253454 chr8 104566086 104566429 + NDUFA5P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253455 chr8 48620465 48623895 + AC022915.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253456 chr5 158985806 158987199 + AC136424.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253457 chr8 30638600 30646064 + SMIM18 protein_coding 100507341 GO:0016021, integral component of membrane, 0 1 1 0 1 1 0 0 0 ENSG00000253458 chr14 106163583 106163802 - IGHVII-15-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253460 chr22 16921443 16922173 - IGKV2OR22-3 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253461 chr2 89286689 89286973 - IGKV1-35 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253462 chr14 106309417 106309666 - IGHVIII-26-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253463 chr8 123123106 123123682 + HMGB1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253465 chr14 106489345 106489756 - IGHVIV-44-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253467 chr14 106425359 106425654 - IGHV7-40 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253468 chr8 98412882 98413784 - AP003355.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253469 chr5 167164934 167168401 - AC091819.1 lincRNA 101927908 0 0 0 0 0 0 0 0 0 ENSG00000253470 chr8 125749055 125750241 - AC016074.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253471 chr8 23707141 23789487 + AC012574.1 lincRNA 0 1 0 0 0 0 2 0 0 ENSG00000253472 chr5 151378003 151378640 - AC034205.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253474 chr8 49168539 49228925 + AC022568.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253475 chr8 51895957 51896374 - AC103769.1 sense_intronic 3 0 0 2 1 6 10 2 4 ENSG00000253476 chr8 25425521 25426580 - AC091185.1 lincRNA 25 29 24 16 48 28 28 22 29 ENSG00000253477 chr8 103483398 103501676 - AC012213.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253479 chr8 69425035 69448244 - LINC01603 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253480 chr5 180085717 180087038 - AC122713.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253481 chr22 16933521 16934003 - IGKV1OR22-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253482 chr14 106314651 106314975 - IGHVII-26-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253483 chr8 23483016 23483534 - AC104561.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253484 chr8 49817586 49820944 - AC113145.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253485 chr5 141364232 141512979 + PCDHGA5 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56110 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 2 0 0 0 0 ENSG00000253487 chr2 89295233 89295455 - IGKV2-36 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253488 chr8 23634876 23635507 - SINHCAFP3 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000253489 chr8 111179193 111179872 - AC009930.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253490 chr8 29748309 29798492 + LINC02099 lincRNA 101929450 0 0 0 0 0 0 0 0 0 ENSG00000253491 chr14 106342680 106342980 - IGHVII-30-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253492 chr5 70132679 70132973 + CDH12P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253493 chr8 64973488 64973848 - AC087808.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253495 chr8 119618162 119618474 - CYCSP23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253496 chr8 16598758 16915044 - AC011586.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253497 chr2 89045995 89046466 - IGKV1-13 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253499 chr8 114318400 114318911 - AC025881.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253500 chr8 87540835 87755718 - AF121898.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253501 chr2 89906757 89907246 + IGKV3D-34 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253502 chr8 47194002 47194347 - ATP6V1G1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253503 chr8 82514568 82677153 - AC060765.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253504 chr8 36277763 36278886 - MTCYBP19 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253505 chr8 8414205 8424640 - AC103957.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253506 chr17 61590426 61591202 - NACA2 protein_coding 342538 GO:0005854, GO:0005737, GO:0005634, nascent polypeptide-associated complex, cytoplasm, nucleus, GO:0051082, unfolded protein binding, GO:0006612, protein targeting to membrane, 0 0 0 0 2 1 0 0 0 ENSG00000253507 chr8 131308545 131317632 + AC104257.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253508 chr7 27186573 27193448 - AC004080.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253509 chr8 41275115 41277003 - AC104393.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253510 chr8 5506068 5509126 - AC004944.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253512 chr5 165782805 165783134 - AC008562.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253513 chr8 124996985 124998198 - AC009908.1 antisense 105375744 0 0 0 0 0 0 0 0 0 ENSG00000253515 chr2 46499731 46501278 + AC018682.2 antisense 0 0 0 4 7 10 3 4 7 ENSG00000253516 chr8 80812142 80812581 - HMGB1P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253517 chr8 62855068 62857134 - XRCC6P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253519 chr5 157565964 157569098 + AC106801.1 antisense 2 2 4 0 1 5 0 3 2 ENSG00000253520 chr5 179527224 179527513 - AC136628.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253521 chr8 132507962 132565246 - HPYR1 lincRNA 93668 1 1 3 4 5 4 0 0 0 ENSG00000253522 chr5 160438594 160487426 + MIR3142HG lincRNA 107075116 GO:0035195, gene silencing by miRNA, 4 7 41 4 1 12 3 5 12 ENSG00000253523 chr8 58031334 58032682 - AC104350.1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000253524 chr8 36004316 36095046 - AC124290.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253525 chr8 91157285 91158748 + AC104966.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000253526 chr8 105826570 105834038 + AC090802.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253527 chr5 167306273 167309870 - AC008601.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253528 chr8 94974573 94974853 - AC087752.2 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000253530 chr8 126518698 126522351 + AC084116.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253532 chr8 99119352 99120581 + AC107909.1 sense_intronic 0 0 2 0 0 3 2 0 3 ENSG00000253534 chr7 142507382 142507810 + TRBV6-8 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000253535 chr8 24295814 24912073 - AC120193.1 antisense 0 2 1 0 0 0 0 1 0 ENSG00000253536 chr5 71475761 71476316 - AC138832.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253537 chr5 141382739 141512979 + PCDHGA7 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56108 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000253538 chr5 164209631 164211892 + AC008662.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253539 chr8 99796615 99799187 - AC018442.2 antisense 1 0 1 0 2 0 0 0 2 ENSG00000253540 chr3 130099092 130111472 - FAM86HP transcribed_unprocessed_pseudogene 0 2 2 1 2 3 6 0 4 ENSG00000253541 chr8 56476826 56477987 - SEPT10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253542 chr8 56373064 56395365 - SDR16C6P transcribed_unitary_pseudogene 442388 0 0 0 0 0 0 0 0 0 ENSG00000253543 chr8 126582631 126583006 - AC083923.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253544 chr8 61909984 61910802 - C1GALT1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253545 chr14 106586376 106586826 - IGHV3-52 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253546 chr22 22700760 22700970 + IGLVVI-22-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253547 chr11 63046785 63048126 + AP001858.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253548 chr3 191461163 191461456 + PYDC2 protein_coding 152138 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, protein binding, GO:1901223, GO:1900226, GO:0050728, GO:0045087, GO:0032691, GO:0032088, GO:0010804, GO:0006954, negative regulation of NIK/NF-kappaB signaling, negative regulation of NLRP3 inflammasome complex assembly, negative regulation of inflammatory response, innate immune response, negative regulation of interleukin-1 beta production, negative regulation of NF-kappaB transcription factor activity, negative regulation of tumor necrosis factor-mediated signaling pathway, inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000253549 chr8 85441851 85464915 - CA3-AS1 antisense 3 1 2 0 1 0 1 4 2 ENSG00000253550 chr8 6473845 6474288 - AC016065.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253551 chr8 52194362 52199580 + AC021915.1 antisense 101929341 0 0 0 0 0 0 0 0 0 ENSG00000253552 chr7 27107777 27134302 + HOXA-AS2 antisense 13 14 4 4 5 6 1 10 5 ENSG00000253553 chr8 88326836 88887323 + AC090578.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253554 chr8 63687179 64368558 - AC022639.1 lincRNA 102724623 0 0 0 0 0 0 0 0 0 ENSG00000253555 chr8 63136223 63138084 - AC011978.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253556 chr8 103088796 103090671 + MTCO1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253557 chr8 19084992 19259469 - AC100849.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253558 chr5 78041879 78044138 - AC024568.1 transcribed_processed_pseudogene 1 3 1 7 2 13 5 4 28 ENSG00000253559 chr2 189762704 189765556 + OSGEPL1-AS1 antisense 1 1 2 5 1 4 0 4 5 ENSG00000253560 chr8 27697217 27697526 - AC013643.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253561 chr8 133771409 133814537 + AC133634.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253562 chr8 99091738 99094060 - AC107909.2 antisense 4 5 7 15 14 36 24 10 17 ENSG00000253563 chr14 36519278 36523016 + NKX2-1-AS1 antisense 100506237 0 0 0 0 0 0 0 0 0 ENSG00000253564 chr8 73215929 73216627 - AC100823.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253567 chr8 28447264 28455902 + AC025871.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253568 chr8 86776479 86776638 - AC090572.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253569 chr8 33722305 33723079 - VENTXP5 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000253570 chr8 38600661 38601200 - RNF5P1 processed_pseudogene 63 61 76 36 53 49 67 46 46 ENSG00000253571 chr8 5848697 5849692 + AC087369.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253572 chr5 77942757 77946438 - AC108482.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000253573 chr8 126766876 126790637 - AC024382.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000253574 chr8 139911238 139916620 + AC021744.1 antisense 0 0 0 2 4 0 0 0 0 ENSG00000253576 chr8 91975908 91977418 + AF181450.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253577 chr8 92765702 92776451 + AC104211.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253578 chr2 89170775 89171212 - IGKV1-22 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253579 chr8 31131539 31131802 - SUMO2P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253580 chr8 108652373 108653315 + TRMT10BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253581 chr8 82979411 82979886 + AC105031.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253582 chr8 106520474 106657548 - AC090579.1 antisense 1 0 0 2 0 0 0 1 0 ENSG00000253583 chr8 63586000 63589408 + AC018953.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253584 chr5 104917492 105246364 - AC091987.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253585 chr8 94097764 94104322 - AP003351.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253586 chr8 38799643 38802296 + AC067817.1 sense_intronic 3 1 1 0 0 0 1 2 8 ENSG00000253587 chr14 106344385 106344833 - IGHV3-30-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253590 chr22 22762294 22762516 + IGLV3-13 IG_V_pseudogene 0 0 1 0 0 2 0 0 5 ENSG00000253591 chr5 170639158 170681437 - AC027312.1 antisense 105377716 0 0 0 0 0 0 0 0 0 ENSG00000253592 chr2 89309898 89310144 - IGKV2-38 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253593 chr8 133886496 133902407 + AC110741.1 lincRNA 101927822 0 0 0 0 0 0 0 0 0 ENSG00000253595 chr8 141340549 141344621 + LINC01300 antisense 731779 0 0 0 0 0 0 0 0 0 ENSG00000253596 chr8 74347757 74350050 - AC103952.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253598 chr8 81693607 81696174 - SLC10A5 protein_coding 347051 GO:0016021, integral component of membrane, GO:0008508, bile acid:sodium symporter activity, GO:0055085, GO:0015721, GO:0006814, transmembrane transport, bile acid and bile salt transport, sodium ion transport, 0 1 0 0 0 4 0 2 0 ENSG00000253600 chr5 164601002 164601452 - AC008446.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253602 chr8 142247585 142247866 - RN7SL260P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000253603 chr8 56074592 56075274 + CERNA3 antisense 105375847 0 0 0 0 0 0 0 0 0 ENSG00000253604 chr8 29905735 29908956 + AC131254.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253605 chr8 141459075 141460031 + HNRNPA1P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253606 chr8 43270198 43271960 - AFG3L2P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000253607 chr8 123002560 123030751 + AC104316.1 antisense 15 20 30 13 10 36 14 7 15 ENSG00000253608 chr8 48551567 48698510 + AC022915.2 antisense 101929268 0 0 0 0 0 0 0 0 0 ENSG00000253610 chr8 36308245 36308364 + AP006245.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253611 chr8 43219960 43220809 - VN1R46P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253612 chr8 155274 155481 + WBP1LP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253613 chr5 111076921 111092115 - AC008572.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253614 chr8 57261226 57266613 + AC025674.2 lincRNA 286177 0 0 0 0 0 0 0 0 0 ENSG00000253615 chr8 27903566 27903715 + AC069113.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253616 chr8 23071377 23074488 - AC107959.3 antisense 138 162 227 43 150 130 75 96 124 ENSG00000253617 chr5 179385819 179385992 - AC109479.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253618 chr5 149348116 149357642 - GRPEL2-AS1 antisense 106144529 8 3 0 1 5 0 8 0 0 ENSG00000253619 chr8 120913065 121119754 + AC068413.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253620 chr8 64091 64320 - AC144568.1 processed_pseudogene 0 10 5 0 10 7 0 2 1 ENSG00000253621 chr8 89243401 89243793 - RPSAP74 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253622 chr8 117128455 117130299 + AC027419.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253623 chr8 66480648 66481486 + AC009879.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253625 chr2 89172022 89172553 - IGKV2-23 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253626 chr10 79512601 79516440 + EIF5AL1 protein_coding 143244 GO:0005789, GO:0005643, endoplasmic reticulum membrane, nuclear pore, GO:0043022, GO:0003746, ribosome binding, translation elongation factor activity, GO:0051028, GO:0045905, GO:0045901, GO:0015031, GO:0006414, mRNA transport, positive regulation of translational termination, positive regulation of translational elongation, protein transport, translational elongation, 20 18 39 10 20 14 13 15 8 ENSG00000253627 chr8 134211865 134320447 - AC105180.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253628 chr5 172816621 172819958 + AC110011.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000253629 chr8 101686547 101689093 + AP000426.1 antisense 2 0 1 3 5 14 5 0 5 ENSG00000253630 chr5 157747504 157747707 - AC026407.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253631 chr22 22450202 22450652 + IGLV7-35 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253632 chr8 29527312 29530323 + AC084026.2 lincRNA 0 0 0 0 0 0 3 0 0 ENSG00000253633 chr8 102528740 102538668 + AP002852.1 lincRNA 107986898 0 0 0 0 0 0 0 0 0 ENSG00000253634 chr8 92460539 92655569 - AC091096.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253635 chr14 106692657 106692888 - IGHVIII-67-3 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253636 chr8 73052178 73063061 + AC022893.1 antisense 15 9 11 11 16 12 23 11 23 ENSG00000253637 chr22 22182582 22182885 + IGLVV-58 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253638 chr8 133392211 133392690 - AF186190.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000253639 chr8 97858049 97858947 - SUMO2P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253641 chr8 10474565 10481974 + LINCR-0001 lincRNA 101929191 12 15 16 2 13 25 16 10 22 ENSG00000253642 chr8 33604856 34039008 + AF279873.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253643 chr8 24490312 24514829 - AC024958.1 antisense 101929315 0 0 0 0 0 0 0 0 0 ENSG00000253644 chr8 101387299 101393186 - AP001208.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253645 chr8 38970360 38973011 - AC108863.1 antisense 248 217 329 153 130 244 147 90 193 ENSG00000253646 chr5 155111184 155112324 - AC010476.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253647 chr5 170389493 170422844 + CTD-2270F17.1 antisense 101928033 0 0 0 0 0 0 0 0 0 ENSG00000253648 chr8 15973315 16000324 + AC018437.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253649 chr8 10482878 10547585 - PRSS51 protein_coding 9 10 15 15 28 6 23 11 0 ENSG00000253650 chr8 37095150 37095390 + SMARCE1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253651 chr8 125951861 125952314 - SOD1P3 processed_pseudogene 5 4 6 2 1 2 0 2 0 ENSG00000253652 chr5 179503322 179515579 - AC136628.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253653 chr5 157260122 157266625 - AC009185.1 antisense 23 17 20 11 7 18 32 9 11 ENSG00000253654 chr8 48294026 48294694 - AC105029.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253655 chr8 84980073 84980547 - IGJP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253656 chr8 130595299 130655712 - AC090987.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000253657 chr8 108572643 108573174 + AC022634.1 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000253658 chr8 68911803 69104190 - LINC01592 lincRNA 100505718 0 0 0 0 0 0 0 0 0 ENSG00000253659 chr8 79297717 79314471 + AC138646.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000253660 chr5 167937717 167953469 - AC008464.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253661 chr8 76491200 76683278 - ZFHX4-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253663 chr8 103016744 103017589 + NPM1P52 processed_pseudogene 0 0 0 0 4 0 0 0 0 ENSG00000253664 chr8 51257688 51321118 + AC012413.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253665 chr8 40114651 40127468 + AC022733.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253666 chr8 100475675 100501148 + AP000424.1 antisense 0 0 0 0 0 2 0 0 0 ENSG00000253667 chr8 53971231 53974210 + AC100821.1 processed_pseudogene 3 2 2 5 6 14 1 1 9 ENSG00000253668 chr8 53712697 53712896 + AC103778.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253669 chr8 102805517 102809971 + GASAL1 lincRNA 2 3 2 35 12 34 36 14 15 ENSG00000253670 chr8 25141394 25141968 - AC073581.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253671 chr8 17808941 17820868 + AC027117.1 processed_transcript 101930275 0 0 0 0 0 0 0 0 0 ENSG00000253672 chr8 116402543 116403757 - AC105177.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253673 chr5 158175396 158200016 + AC025437.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253674 chr14 106865627 106865895 - IGHVII-78-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253675 chr8 86098965 86154225 - AC023194.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253676 chr8 106697427 106698013 - TAGLN2P1 processed_pseudogene 11 18 7 5 11 8 0 3 3 ENSG00000253677 chr8 81254870 81255229 + UBE2HP1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000253678 chr8 10476597 10479420 - AC104964.1 lincRNA 4 10 6 0 3 14 2 3 1 ENSG00000253679 chr8 101261541 101262903 - AP001330.2 lincRNA 105375679 0 0 0 0 0 0 0 0 0 ENSG00000253680 chr8 85617344 85617512 - AC093331.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253681 chr8 76576551 76579345 - AC013509.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253682 chr8 92403545 92413645 - AC022695.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253683 chr5 172656522 172656713 - AC027309.2 processed_pseudogene 99 68 91 62 78 80 61 91 38 ENSG00000253684 chr8 33641581 33641939 - BUD31P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253685 chr8 36279491 36279696 - MTND5P41 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253686 chr5 173707614 173746211 - LINC01484 lincRNA 101928136 0 0 0 0 0 0 0 0 0 ENSG00000253687 chr5 160613873 160639183 + AC008456.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253688 chr8 48551527 48556441 - AC026904.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253690 chr8 28250063 28339255 - AC021678.2 antisense 0 0 0 0 5 0 1 1 0 ENSG00000253691 chr22 16914235 16914981 - IGKV2OR22-4 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253692 chr14 105721794 105722527 - IGHEP1 IG_C_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000253693 chr5 165349030 165778689 + AC008415.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253695 chr8 10840576 10846501 + AC011008.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253696 chr8 1971397 1976478 + KBTBD11-OT1 lincRNA 104266957 0 0 0 0 0 0 0 0 0 ENSG00000253697 chr8 9658295 9658438 - AC103834.1 unprocessed_pseudogene 3 0 1 0 0 0 0 3 0 ENSG00000253698 chr5 178350867 178352250 + AC136601.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253699 chr8 86180418 86212236 + AC084128.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253702 chr8 48597458 48621018 - AC026904.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253703 chr14 106703846 106704286 - IGHV1-68 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253704 chr8 94553722 94569745 + AC023632.2 lincRNA 101926977 1 0 0 0 0 0 2 0 0 ENSG00000253706 chr8 74798784 74866939 - AC011632.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253707 chr8 43284626 43284806 - AC022616.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253708 chr8 30176554 30180888 - AC026979.1 antisense 1 1 0 2 5 0 5 1 0 ENSG00000253709 chr14 106145891 106146131 - IGHV1-14 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253710 chr13 52012398 52032171 + ALG11 protein_coding This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]. 440138 GO:0016021, GO:0016020, GO:0016020, GO:0005789, integral component of membrane, membrane, membrane, endoplasmic reticulum membrane, GO:0004377, GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity, GO:0097502, GO:0006490, GO:0006487, mannosylation, oligosaccharide-lipid intermediate biosynthetic process, protein N-linked glycosylation, 35 40 51 45 41 85 60 33 38 ENSG00000253711 chr8 61300164 61301069 - AC023866.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253712 chr8 75167704 75176656 - AC022274.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253713 chr5 167116318 167119585 - AC091819.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253714 chr14 106599670 106599924 - IGHVII-53-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253715 chr8 142785374 142812120 + AC083841.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253716 chr8 143280161 143281690 - MINCR antisense 100507316 0 1 4 7 2 11 4 0 5 ENSG00000253717 chr8 110766863 110772759 + AP005357.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253719 chr12 74537827 74545430 + ATXN7L3B protein_coding 552889 GO:0005737, cytoplasm, GO:0005515, protein binding, GO:0010468, GO:0010468, regulation of gene expression, regulation of gene expression, 260 252 423 306 166 337 263 121 218 ENSG00000253720 chr8 129939856 129949394 + AC022973.2 lincRNA 16 13 30 10 4 21 23 5 4 ENSG00000253721 chr8 69987415 69987697 - SUMO2P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253722 chr8 93733216 93734022 + AC010834.1 antisense 29 29 37 28 35 43 33 27 41 ENSG00000253723 chr8 59821124 59821433 + AC107934.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253725 chr5 178840097 178841134 + AC126915.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253726 chr8 72732045 72751843 + AC013562.1 sense_intronic 101926908 0 0 0 0 0 0 0 0 0 ENSG00000253728 chr8 142834138 142834940 - AC083841.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253729 chr8 47773108 47960183 - PRKDC protein_coding This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]. 5591 GO:0070419, GO:0032993, GO:0032991, GO:0032040, GO:0016020, GO:0005958, GO:0005829, GO:0005730, GO:0005667, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000781, nonhomologous end joining complex, protein-DNA complex, protein-containing complex, small-subunit processome, membrane, DNA-dependent protein kinase-DNA ligase 4 complex, cytosol, nucleolus, transcription regulator complex, nucleoplasm, nucleoplasm, nucleus, nucleus, chromosome, telomeric region, GO:0106311, GO:0106310, GO:0034511, GO:0019904, GO:0019899, GO:0008134, GO:0005524, GO:0005515, GO:0004677, GO:0004674, GO:0004674, GO:0004674, GO:0004672, GO:0004672, GO:0003723, GO:0003690, protein threonine kinase activity, protein serine kinase activity, U3 snoRNA binding, protein domain specific binding, enzyme binding, transcription factor binding, ATP binding, protein binding, DNA-dependent protein kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein serine/threonine kinase activity, protein kinase activity, protein kinase activity, RNA binding, double-stranded DNA binding, GO:2001229, GO:2001034, GO:2000773, GO:1905221, GO:1902036, GO:0097681, GO:0072431, GO:0050678, GO:0048660, GO:0048639, GO:0048538, GO:0048536, GO:0048511, GO:0048146, GO:0045944, GO:0045727, GO:0045648, GO:0045621, GO:0045087, GO:0043066, GO:0043065, GO:0042752, GO:0035234, GO:0034462, GO:0033153, GO:0033152, GO:0033077, GO:0032869, GO:0032481, GO:0031648, GO:0018107, GO:0018105, GO:0016567, GO:0016233, GO:0014823, GO:0010332, GO:0008630, GO:0007507, GO:0007420, GO:0006974, GO:0006468, GO:0006468, GO:0006464, GO:0006303, GO:0006302, GO:0006302, GO:0002638, GO:0002360, GO:0002328, GO:0002326, GO:0002218, GO:0001933, GO:0001756, GO:0000723, GO:0000460, negative regulation of response to gamma radiation, positive regulation of double-strand break repair via nonhomologous end joining, negative regulation of cellular senescence, positive regulation of platelet formation, regulation of hematopoietic stem cell differentiation, double-strand break repair via alternative nonhomologous end joining, signal transduction involved in mitotic G1 DNA damage checkpoint, regulation of epithelial cell proliferation, regulation of smooth muscle cell proliferation, positive regulation of developmental growth, thymus development, spleen development, rhythmic process, positive regulation of fibroblast proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of translation, positive regulation of erythrocyte differentiation, positive regulation of lymphocyte differentiation, innate immune response, negative regulation of apoptotic process, positive regulation of apoptotic process, regulation of circadian rhythm, ectopic germ cell programmed cell death, small-subunit processome assembly, T cell receptor V(D)J recombination, immunoglobulin V(D)J recombination, T cell differentiation in thymus, cellular response to insulin stimulus, positive regulation of type I interferon production, protein destabilization, peptidyl-threonine phosphorylation, peptidyl-serine phosphorylation, protein ubiquitination, telomere capping, response to activity, response to gamma radiation, intrinsic apoptotic signaling pathway in response to DNA damage, heart development, brain development, cellular response to DNA damage stimulus, protein phosphorylation, protein phosphorylation, cellular protein modification process, double-strand break repair via nonhomologous end joining, double-strand break repair, double-strand break repair, negative regulation of immunoglobulin production, T cell lineage commitment, pro-B cell differentiation, B cell lineage commitment, activation of innate immune response, negative regulation of protein phosphorylation, somitogenesis, telomere maintenance, maturation of 5.8S rRNA, 2062 3033 3900 1004 1667 1663 1121 1308 1265 ENSG00000253730 chr17 50158333 50161276 - AC015909.2 antisense 1 0 0 0 0 0 0 0 0 ENSG00000253731 chr5 141373914 141512979 + PCDHGA6 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56109 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 1 1 2 3 0 0 1 2 0 ENSG00000253732 chr2 89134975 89135257 - IGKV2-19 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253733 chr8 20275773 20290458 + LZTS1-AS1 lincRNA 100874051 GO:0005840, ribosome, GO:0003735, structural constituent of ribosome, 0 0 0 0 0 0 0 0 0 ENSG00000253734 chr8 63769430 63785501 + LINC01289 lincRNA 286184 0 0 0 0 0 0 0 0 0 ENSG00000253735 chr8 9351238 9358441 - AC021736.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253736 chr5 172762980 172782334 + AC022217.3 antisense 70 60 70 146 217 244 107 126 181 ENSG00000253737 chr8 101139665 101140929 + AP003469.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253738 chr8 91059909 91070189 - OTUD6B-AS1 antisense 192 153 172 138 116 187 131 121 135 ENSG00000253739 chr8 38166012 38166118 - RNU6-323P snRNA 2 0 0 0 0 0 0 0 0 ENSG00000253740 chr8 100618581 100619993 + AP001205.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253741 chr8 142702252 142726973 - LNCOC1 antisense 100288181 0 4 2 2 2 10 0 0 9 ENSG00000253742 chr14 106631197 106631653 - IGHV3-60 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253743 chr5 157984658 157989990 - MARK2P11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253744 chr5 66144156 66144795 - AC025442.1 antisense 29 28 40 33 18 17 9 23 32 ENSG00000253745 chr8 46922561 46928832 + AC091163.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253746 chr8 37405439 37406724 - AC091182.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253747 chr14 106650551 106650785 - IGHVII-62-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253748 chr8 43539973 43540927 + CYP4F44P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253749 chr8 92420850 92421798 - AC022695.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253750 chr8 64554236 64554475 - AC090136.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253752 chr22 22079770 22080263 + IGLVI-63 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253754 chr8 108226200 108227544 + AC087620.1 antisense 0 0 0 3 0 0 0 0 3 ENSG00000253755 chr14 105664633 105669843 - IGHGP IG_C_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253756 chr8 114791653 114791929 - CARSP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253759 chr14 106618894 106619173 - IGHV3-57 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253760 chr8 80568050 80568506 - AC009812.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253762 chr8 63704756 63751677 + AC069133.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253763 chr14 106055549 106055998 - IGHV3-6 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253764 chr8 1971181 1974637 - AC019257.1 lincRNA 101928058 0 0 0 0 0 0 0 0 0 ENSG00000253765 chr2 90046796 90047057 + IGKV2D-19 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253766 chr5 21616262 21779522 + AC091946.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253767 chr5 141390157 141512979 + PCDHGA8 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 9708 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 4 0 0 ENSG00000253768 chr5 173562478 173573199 + AC008663.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253770 chr8 29218905 29219472 + HMGB1P23 processed_pseudogene 0 0 0 0 1 2 0 0 0 ENSG00000253771 chr13 24924677 24968487 - TPTE2P1 transcribed_unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000253772 chr5 160247517 160248217 + AC112191.1 processed_pseudogene 9 11 14 15 35 22 13 3 37 ENSG00000253773 chr8 95204456 95810136 + C8orf37-AS1 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000253774 chr8 8559894 8562124 + AC114550.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253775 chr8 20079114 20124857 + AC100802.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253776 chr5 104773641 104799772 + AC099520.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253777 chr8 74804287 74804811 - AC026616.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253778 chr8 86765935 86818558 + AC090572.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253779 chr22 22679097 22679345 + IGLVVI-25-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253780 chr14 106001534 106001824 - IGHVIII-2-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253781 chr8 93646066 93647092 + ZNF317P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253782 chr8 46930840 46934446 - AC091163.2 lincRNA 105375814 0 0 0 0 0 0 0 0 0 ENSG00000253783 chr8 139114193 139127953 - AC100807.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000253784 chr8 72874859 72881740 - AC090735.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253785 chr5 172975511 172976374 + AC008429.2 processed_pseudogene 1 1 8 3 1 0 0 3 0 ENSG00000253786 chr22 22755554 22755797 + IGLV3-15 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253787 chr5 68189876 68198407 + LINC02219 lincRNA 102467655 0 0 0 1 0 0 0 0 0 ENSG00000253789 chr8 62110524 62119898 + NARSP2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253790 chr8 39997869 39998499 - AC007991.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253792 chr5 158173601 158176422 - AC025437.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253793 chr8 30983459 30984321 - AC008066.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253794 chr22 22043618 22043942 + IGLV10-67 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253795 chr8 103085651 103086590 + MTND1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253796 chr8 108895029 109063417 - AC104248.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253797 chr13 52024691 52033600 + UTP14C protein_coding 9724 GO:0032040, GO:0005829, GO:0005730, GO:0005730, small-subunit processome, cytosol, nucleolus, nucleolus, GO:0005515, protein binding, GO:0051321, GO:0030154, GO:0007283, GO:0007275, GO:0006364, meiotic cell cycle, cell differentiation, spermatogenesis, multicellular organism development, rRNA processing, 18 15 19 14 20 30 14 15 22 ENSG00000253798 chr5 157682985 157690878 - AC008694.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253799 chr8 90592804 90606065 - LINC01030 lincRNA 101937451 1 0 0 0 0 0 0 0 0 ENSG00000253800 chr8 64570913 64571332 - AC090136.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253801 chr5 68087161 68087494 - AC010376.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253802 chr8 40298741 40343402 - SIRLNT lincRNA 112543493 0 0 0 0 0 0 0 0 0 ENSG00000253803 chr8 46870902 46872045 - AC091163.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253805 chr8 2033508 2035587 + AC245164.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253806 chr8 142727283 142727690 - AC108002.1 antisense 1 2 0 0 2 0 0 2 2 ENSG00000253807 chr5 124059794 124405079 - LINC01170 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253808 chr14 106515818 106515854 - IGHVII-46-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253809 chr6 70222758 70242156 + AL160262.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253810 chr8 49740216 49741321 - PSAT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253811 chr5 158983006 158984789 + AC136424.2 antisense 0 0 0 0 0 0 0 0 1 ENSG00000253813 chr8 26835817 26836300 - COX6B1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253814 chr8 122091480 122091609 + MRPS36P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253816 chr5 70219918 70258930 - AC138866.1 unprocessed_pseudogene 0 0 3 0 0 0 0 0 0 ENSG00000253817 chr8 47198032 47198323 - AC120036.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253818 chr22 22404207 22404721 + IGLV1-41 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253819 chr8 122670385 122694106 - LINC01151 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253820 chr14 106686517 106686562 - IGHVII-67-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253821 chr8 57492884 57591559 + AC090796.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253822 chr22 22694439 22694952 + IGLV3-24 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253823 chr22 22086561 22087110 + IGLV1-62 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253824 chr8 100381260 100414459 - AP003472.1 lincRNA 1 0 1 0 0 0 0 0 0 ENSG00000253825 chr4 120035033 120040615 - AC097173.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253826 chr11 75780 76143 + WBP1LP10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253828 chr8 46827228 46827894 - MTND2P38 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253829 chr8 38844866 38846439 - AC067817.2 antisense 25 33 35 30 51 32 42 24 41 ENSG00000253831 chr1 157092044 157099808 - ETV3L protein_coding 440695 GO:0005634, nucleus, GO:0043565, GO:0005515, GO:0001227, GO:0000981, sequence-specific DNA binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0030154, GO:0006357, GO:0000122, cell differentiation, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 0 1 1 0 0 0 0 0 ENSG00000253832 chr8 24992002 25009777 + AC107373.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253833 chr8 73984493 73984883 + AC022868.1 processed_pseudogene 0 0 2 0 0 0 0 1 0 ENSG00000253834 chr8 61821481 61825252 - AC025524.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253836 chr8 82862779 82958696 - AC105031.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253837 chr8 23336171 23366125 + AC090197.1 processed_transcript 100507156 3 2 0 5 1 0 2 2 8 ENSG00000253838 chr8 39914229 39915721 + AC007991.2 sense_intronic 1 1 7 0 0 0 0 0 0 ENSG00000253840 chr8 54247633 54247906 + AC044836.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253841 chr8 126073046 126073532 - AC024681.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253842 chr8 100428834 100430997 - AP003472.2 lincRNA 2 0 0 3 0 0 4 0 0 ENSG00000253843 chr8 48193850 48194627 - AC104989.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253844 chr8 51961458 52022974 + AC064807.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253845 chr8 43672823 43673075 + AC139365.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253846 chr5 141412987 141512979 + PCDHGA10 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56106 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 2 0 4 0 0 0 0 0 0 ENSG00000253848 chr8 93741193 93744534 + AC010834.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000253849 chr8 50381015 50382275 + AC090539.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000253851 chr8 103228425 103229314 - AC025370.1 antisense 0 0 0 0 2 0 0 0 0 ENSG00000253852 chr5 150608428 150615354 - AC011383.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253853 chr8 2727318 2822482 + AC246817.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253854 chr8 93719574 93721167 + AC010834.3 antisense 2 5 5 2 3 17 2 7 0 ENSG00000253855 chr8 2518998 2522182 + AC245187.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253857 chr8 55161483 55164727 + AC022679.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253858 chr5 170483806 170486407 - AC008619.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253859 chr8 81439436 81521818 + AC018616.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253860 chr2 89275298 89275787 - IGKV3-34 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253861 chr5 168552277 168553727 - SLC2A3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253862 chr14 106531141 106531471 - IGHVIII-47-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253865 chr5 149372174 149375116 + AC131025.1 antisense 0 0 2 2 0 1 3 2 1 ENSG00000253866 chr8 20934435 20934837 - TMEM97P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253868 chr8 124046073 124171522 - FER1L6-AS2 antisense 157376 0 0 0 0 0 0 0 0 0 ENSG00000253869 chr5 178922064 178922716 + PIGFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253870 chr2 89253571 89254015 - IGKV1-32 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253871 chr8 57343787 57364857 + AC068075.1 lincRNA 101929488 0 0 0 0 0 0 0 0 0 ENSG00000253872 chr8 95505406 95527524 + AC083836.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253873 chr5 141421047 141512979 + PCDHGA11 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56105 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 3 0 6 0 0 0 ENSG00000253874 chr22 22058433 22058892 + IGLVIV-66-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253875 chr8 27733338 27756426 + AC013643.2 antisense 0 0 0 0 3 0 1 1 2 ENSG00000253877 chr8 110937690 111027433 - LINC01608 lincRNA 101927459 0 0 0 0 0 0 0 0 0 ENSG00000253878 chr8 94950037 94951396 + AC087752.3 sense_intronic 3 1 4 6 12 0 0 1 0 ENSG00000253879 chr8 59601378 59613775 + AC087664.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253880 chr8 6044353 6257537 - AC009435.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253881 chr8 8048919 8049267 + AC105233.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253882 chr7 143761790 143836933 - AC099548.2 transcribed_unprocessed_pseudogene 154761 3 9 16 7 5 15 3 2 14 ENSG00000253883 chr14 106196700 106196990 - IGHV3-19 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253884 chr8 43246755 43246935 - AC022616.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253885 chr8 124151923 124152433 + ARF1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253886 chr5 154493576 154494743 + AC026688.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253887 chr8 9255349 9260295 - AC022784.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253888 chr8 27184321 27210494 + AC090150.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253889 chr22 22425821 22426314 + IGLVI-38 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253891 chr8 24169957 24177080 - AC023202.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253892 chr8 48657260 48658894 - AC022915.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253893 chr8 8167819 8226614 - FAM85B antisense 3 4 3 3 15 11 14 6 11 ENSG00000253894 chr8 63465849 63475482 + AC011124.2 lincRNA 102724612 0 0 0 0 0 0 0 0 0 ENSG00000253895 chr14 106494134 106494383 - IGHVII-44-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253896 chr8 72601 79775 + AC144568.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253897 chr5 151366299 151436953 - AC034205.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253898 chr8 83403758 83408900 + LINC01419 lincRNA 103352670 0 0 0 0 0 0 0 0 0 ENSG00000253899 chr8 27063996 27065278 - AC067904.2 processed_pseudogene 5 2 1 2 4 1 1 8 5 ENSG00000253900 chr5 71132993 71133287 + CDH12P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253901 chr8 91542924 91907619 - AC103409.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253903 chr8 27086076 27087783 + AC090150.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253906 chr2 90179889 90180587 + IGKV2D-10 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253907 chr8 28238430 28238905 + AC021678.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253908 chr5 180257680 180258366 + AC104115.2 processed_pseudogene 0 0 1 3 1 2 0 1 1 ENSG00000253910 chr5 141360042 141512979 + PCDHGB2 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56103 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 1 0 0 2 0 2 1 1 1 ENSG00000253911 chr8 98603253 98606340 + AP003467.1 antisense 2 0 3 0 5 2 2 0 0 ENSG00000253912 chr8 99804159 99804341 - AC018442.3 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000253913 chr22 22673152 22673602 + IGLV3-26 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253915 chr8 135625185 135625981 - MAPRE1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253916 chr8 133755845 133756646 + MTCO1P49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253917 chr4 3915183 3955419 - AC226119.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000253919 chr8 78760142 78762431 - THAP12P7 processed_pseudogene 7 10 10 0 4 11 7 13 11 ENSG00000253920 chr22 22604445 22605165 + IGLV3-31 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253921 chr5 151753992 151767247 + AC091982.1 antisense 0 2 1 2 2 0 1 0 0 ENSG00000253923 chr8 102417979 102418953 + AP002981.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000253924 chr8 52294455 52301942 + AC103831.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000253925 chr5 168085329 168187719 - AC011369.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253926 chr8 129415949 129445852 + AC011257.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253927 chr5 135900353 135918161 - AC002428.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253930 chr8 23189279 23190675 + TNFRSF10A-AS1 antisense 6 8 11 6 2 9 12 3 13 ENSG00000253931 chr8 143412749 143417054 + AC105118.1 antisense 0 0 0 0 0 0 0 0 1 ENSG00000253932 chr8 13338574 13342754 + AC019270.1 antisense 0 0 0 3 0 0 0 0 0 ENSG00000253934 chr8 16374618 16375082 + MRPL49P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253935 chr22 22219647 22220133 + IGLVIV-53 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253936 chr14 106652237 106652681 - IGHV3-63 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253937 chr8 18370607 18371484 + NATP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253939 chr8 39903775 39995248 - AC007991.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253940 chr5 31065970 31066132 - AC026421.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253941 chr14 106584718 106584976 - IGHVII-51-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253942 chr8 101223941 101224573 - AP001330.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253943 chr8 41511240 41512521 + KRT18P37 processed_pseudogene 0 0 0 3 1 0 0 3 0 ENSG00000253944 chr8 17801345 17861069 + AC027117.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253945 chr8 95403802 95403894 + AC024995.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000253946 chr5 165905126 165905608 + AC008489.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253947 chr5 167965187 167967086 - AC008705.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253948 chr8 98996763 99013044 - AC104986.2 lincRNA 12 9 6 10 6 4 6 3 14 ENSG00000253949 chr8 108581062 108626767 + AC022634.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253951 chr8 16275681 16276296 + AC087360.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253952 chr8 77013751 77014028 - HIGD1AP18 processed_pseudogene 0 0 0 2 0 5 0 0 0 ENSG00000253953 chr5 141387698 141512979 + PCDHGB4 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 8641 GO:0016020, GO:0005887, membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 1 0 3 0 ENSG00000253954 chr15 92711808 92712110 + HMGN1P38 processed_pseudogene 30 32 25 18 17 14 21 8 15 ENSG00000253955 chr5 173579643 173585068 + AC008663.2 antisense 285593 0 0 0 1 3 0 0 0 0 ENSG00000253956 chr8 110334743 110349607 - AC073023.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253957 chr14 106257762 106258223 - IGHV3-22 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253958 chr8 8701938 8704106 + CLDN23 protein_coding This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in germinal center B-cells, placenta and stomach as well as in colon tumor. This gene is down-regulated in intestinal type gastric cancer. [provided by RefSeq, Aug 2010]. 137075 GO:0016021, GO:0005923, GO:0005923, GO:0005886, integral component of membrane, bicellular tight junction, bicellular tight junction, plasma membrane, GO:0042802, GO:0005515, GO:0005198, identical protein binding, protein binding, structural molecule activity, GO:0070830, GO:0016338, GO:0007155, bicellular tight junction assembly, calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules, cell adhesion, 0 1 0 0 0 0 0 1 0 ENSG00000253959 chr5 173642519 173658194 + LINC01863 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253960 chr8 93215925 93234878 - AC016885.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253961 chr8 31167078 31177167 - AC009563.1 antisense 5 6 2 8 13 14 9 2 7 ENSG00000253963 chr22 22873212 22873440 + IGLV3-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253964 chr8 68293446 68293818 - RPL31P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253965 chr5 140348484 140357794 - AC008438.2 antisense 0 0 1 1 0 0 0 0 0 ENSG00000253966 chr5 170896929 170904461 + AC008514.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253967 chr8 70471134 70485687 + AC022730.4 lincRNA 101926892 1 2 0 0 2 0 0 1 0 ENSG00000253968 chr5 173414035 173451165 + AC016573.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253970 chr8 133754811 133755450 + MTND2P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253971 chr8 142995850 142996482 + CDC42P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253972 chr8 119215111 119246848 - MAL2-AS1 lincRNA 105375726 0 0 0 1 0 0 2 0 0 ENSG00000253973 chr11 9004162 9065154 + AC079296.1 antisense 0 0 0 1 0 0 0 0 0 ENSG00000253974 chr8 32026219 32139475 + NRG1-IT1 sense_intronic 100856811 0 0 0 0 0 0 0 0 0 ENSG00000253975 chr8 62482198 62483811 - AC018861.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253976 chr8 55135203 55142358 - AC022679.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253977 chr8 103091263 103091509 + MTCO2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253978 chr5 168229583 168232357 - CTB-178M22.2 antisense 101927862 1 1 1 6 6 38 12 2 18 ENSG00000253979 chr5 179377505 179378865 + AC109479.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253980 chr5 157199242 157224380 - AC010609.1 antisense 0 0 0 0 0 0 0 0 7 ENSG00000253981 chr8 8236003 8244667 - ALG1L13P transcribed_unprocessed_pseudogene 1164 1610 1255 952 1369 882 856 1181 703 ENSG00000253982 chr8 1761990 1764502 - AC100810.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253983 chr8 74199396 74208441 + AC087627.1 antisense 0 0 0 0 2 0 0 0 0 ENSG00000253985 chr5 71372676 71374898 - AC145141.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253986 chr8 23493009 23494198 - AC104561.3 lincRNA 0 1 1 0 0 1 0 0 0 ENSG00000253988 chr8 138063268 138073240 + AC079015.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000253989 chr14 106418018 106418299 - IGHVIII-38-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253991 chr8 101528723 101529569 - AP001207.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253992 chr8 130935409 130949665 + AC103726.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000253993 chr8 33226848 33227147 - AC104027.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253994 chr8 110809394 110809894 - NDUFB9P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253995 chr8 33540185 33540493 + RPL10P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253997 chr8 104990308 104990692 - AC090142.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000253998 chr2 89234174 89234912 - IGKV2-29 IG_V_pseudogene 2 1 0 1 0 0 2 0 0 ENSG00000253999 chr2 89929701 89930202 + IGKV3D-31 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254000 chr8 123924759 123925933 - AC090753.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254001 chr8 78148101 78153913 + AC084706.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254002 chr8 23726331 23743042 - AC012574.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254003 chr7 88216660 88219226 + AC003991.2 antisense 102723885 36 17 56 27 14 21 30 14 18 ENSG00000254004 chr19 36510695 36528660 - ZNF260 protein_coding 339324 GO:0005829, GO:0005654, GO:0005634, cytosol, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0007275, GO:0006357, multicellular organism development, regulation of transcription by RNA polymerase II, 16 11 28 42 15 21 15 5 16 ENSG00000254006 chr8 64801236 64817573 - AC104232.1 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000254007 chr8 5659679 5670077 - AC084768.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254008 chr8 142198356 142209003 + LINC00051 antisense 619434 0 0 0 0 2 0 0 0 0 ENSG00000254009 chr2 89872463 89872702 + IGKV2D-38 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254011 chr5 174173101 174181814 + AC011333.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000254012 chr5 171366299 171366611 + RPL10P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254013 chr8 30027713 30028900 + MAP2K1P1 processed_pseudogene 0 0 3 0 8 0 0 4 0 ENSG00000254014 chr8 81244156 81244338 + AC009902.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000254015 chr8 18200924 18201205 - MTND4LP26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254016 chr12 8227734 8231764 + ALG1L10P unprocessed_pseudogene 2 1 0 1 0 0 0 0 0 ENSG00000254017 chr9 5113549 5114804 + IGHEP2 IG_C_pseudogene 5 14 13 26 25 50 20 16 17 ENSG00000254019 chr8 141254565 141256817 + AC011676.2 antisense 105375787 120 84 126 115 112 107 111 72 91 ENSG00000254020 chr8 92723024 92725111 - AC104211.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254021 chr8 106265435 106268741 - AC027031.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254023 chr8 75376709 75377014 + PKMP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254024 chr8 101461177 101492499 - AP001207.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254025 chr8 51435602 51436509 + BRIX1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254026 chr8 20954012 20968904 + AC015468.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254027 chr8 81279871 81281446 - AC009902.2 antisense 3 1 1 13 4 9 4 2 0 ENSG00000254028 chr8 134832747 134834482 + AC083843.1 lincRNA 0 0 0 50 14 46 40 24 16 ENSG00000254029 chr22 22910828 22911075 + IGLC4 IG_C_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254030 chr22 22915635 22915927 + IGLC5 IG_C_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000254031 chr8 71155457 71204223 + AC022858.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254033 chr8 34229294 34248946 - AC087855.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254034 chr8 28798142 28802085 + INTS9-AS1 antisense 5 5 7 3 5 0 1 3 0 ENSG00000254035 chr5 178969390 178990116 + AC104117.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254036 chr14 106687113 106687200 - IGHVIII-67-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254037 chr8 119480279 119480775 - AC021733.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254038 chr8 37067441 37069418 - AC092818.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254039 chr17 49914403 49932918 + AC027801.3 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000254040 chr8 21023296 21029058 + AC103719.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254041 chr8 105142860 105188606 - AC021546.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254042 chr5 168706567 168720884 + AC011365.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254043 chr8 74891151 74896302 - AC011632.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254044 chr4 97334635 97633823 - AC034154.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000254045 chr14 106264688 106264715 - IGHVIII-22-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254046 chr14 106174342 106174760 - IGHV1-17 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254047 chr5 158188977 158189911 - AC025437.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254048 chr8 58991720 58992938 - AC105150.1 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000254049 chr8 32440746 32442725 + NRG1-IT3 sense_intronic 100874286 0 0 0 0 0 0 0 0 0 ENSG00000254050 chr8 62473217 62474269 - AC018861.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254051 chr8 68176768 68177221 + AC011853.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254052 chr14 106695102 106695397 - IGHVIII-67-4 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254053 chr14 106045600 106045860 - IGHVIII-5-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254054 chr8 17905756 17907887 + AC087273.2 lincRNA 0 1 0 2 1 2 3 2 0 ENSG00000254055 chr8 56639901 56656465 - AC009597.1 lincRNA 105375851 0 0 0 0 0 0 0 0 0 ENSG00000254056 chr14 106775157 106775618 - IGHV3-71 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254057 chr8 93834454 93846743 - AC084346.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254060 chr8 81036964 81040831 + AC022778.1 lincRNA 3 11 3 2 2 4 4 1 5 ENSG00000254061 chr8 33436268 33436700 - AC091144.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254063 chr8 101366417 101367005 - DUXAP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254064 chr8 22254576 22275162 - AC105206.2 antisense 100507071 0 0 0 1 2 3 5 0 10 ENSG00000254065 chr8 47592147 47592609 - AC024451.3 processed_pseudogene 0 0 0 3 3 0 0 0 0 ENSG00000254066 chr5 165220577 165241752 - LINC01938 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254067 chr8 39522976 39580134 + AC123767.1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254069 chr8 43493937 43494762 + AC134698.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254070 chr8 46671839 46671926 + AC104576.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254073 chr22 22398849 22398999 + IGLVVII-41-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254075 chr22 22061077 22061538 + IGLVV-66 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254076 chr8 137696724 137698467 + AC110053.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254077 chr22 22838602 22838872 + IGLV3-7 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254079 chr8 95947781 95948233 - AC012339.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254080 chr8 74609698 74633320 - AC115837.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254081 chr8 65527008 65562780 - LINC01299 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254083 chr8 135234131 135299719 + LINC01591 lincRNA 286094 0 0 0 0 0 0 0 0 0 ENSG00000254084 chr8 101411873 101452452 - AP001208.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254086 chr8 29864644 29871661 + AC131254.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254087 chr8 55879813 56014168 + LYN protein_coding This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. 4067 GO:0070062, GO:0048471, GO:0045121, GO:0045121, GO:0043231, GO:0034666, GO:0031234, GO:0030061, GO:0014069, GO:0005912, GO:0005886, GO:0005886, GO:0005829, GO:0005794, GO:0005758, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, perinuclear region of cytoplasm, membrane raft, membrane raft, intracellular membrane-bounded organelle, integrin alpha2-beta1 complex, extrinsic component of cytoplasmic side of plasma membrane, mitochondrial crista, postsynaptic density, adherens junction, plasma membrane, plasma membrane, cytosol, Golgi apparatus, mitochondrial intermembrane space, cytoplasm, nucleus, nucleus, GO:0140031, GO:0051219, GO:0046875, GO:0044325, GO:0043208, GO:0043015, GO:0031625, GO:0017124, GO:0016301, GO:0005524, GO:0005515, GO:0005178, GO:0005161, GO:0005102, GO:0004715, GO:0004715, GO:0004713, GO:0004713, GO:0004713, phosphorylation-dependent protein binding, phosphoprotein binding, ephrin receptor binding, ion channel binding, glycosphingolipid binding, gamma-tubulin binding, ubiquitin protein ligase binding, SH3 domain binding, kinase activity, ATP binding, protein binding, integrin binding, platelet-derived growth factor receptor binding, signaling receptor binding, non-membrane spanning protein tyrosine kinase activity, non-membrane spanning protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, protein tyrosine kinase activity, GO:2000670, GO:2000670, GO:1902961, GO:1902532, GO:0097028, GO:0097028, GO:0090330, GO:0090330, GO:0090025, GO:0071300, GO:0070668, GO:0070667, GO:0070667, GO:0070447, GO:0070373, GO:0070372, GO:0070304, GO:0060397, GO:0060369, GO:0060252, GO:0051279, GO:0051272, GO:0050900, GO:0050855, GO:0050855, GO:0050853, GO:0050777, GO:0050727, GO:0048678, GO:0048013, GO:0046777, GO:0046579, GO:0045646, GO:0045087, GO:0043552, GO:0043407, GO:0043304, GO:0043304, GO:0043200, GO:0042531, GO:0042493, GO:0042127, GO:0038096, GO:0038095, GO:0038083, GO:0035556, GO:0034605, GO:0034144, GO:0034142, GO:0034136, GO:0033628, GO:0033003, GO:0032868, GO:0031668, GO:0031663, GO:0031295, GO:0031175, GO:0030889, GO:0030335, GO:0030218, GO:0030168, GO:0030154, GO:0018108, GO:0016032, GO:0014070, GO:0014068, GO:0014003, GO:0010976, GO:0009743, GO:0009725, GO:0009636, GO:0008285, GO:0008284, GO:0007596, GO:0007169, GO:0007169, GO:0007165, GO:0006991, GO:0006974, GO:0006974, GO:0006468, GO:0002902, GO:0002774, GO:0002768, GO:0002768, GO:0002762, GO:0002576, GO:0002576, GO:0002553, GO:0002513, GO:0002513, GO:0002513, GO:0002431, GO:0002431, GO:0002250, GO:0002223, GO:0001934, GO:0001933, GO:0001932, GO:0001817, GO:0001817, GO:0001816, GO:0001782, positive regulation of dendritic cell apoptotic process, positive regulation of dendritic cell apoptotic process, positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process, negative regulation of intracellular signal transduction, dendritic cell differentiation, dendritic cell differentiation, regulation of platelet aggregation, regulation of platelet aggregation, regulation of monocyte chemotaxis, cellular response to retinoic acid, positive regulation of mast cell proliferation, negative regulation of mast cell proliferation, negative regulation of mast cell proliferation, positive regulation of oligodendrocyte progenitor proliferation, negative regulation of ERK1 and ERK2 cascade, regulation of ERK1 and ERK2 cascade, positive regulation of stress-activated protein kinase signaling cascade, growth hormone receptor signaling pathway via JAK-STAT, positive regulation of Fc receptor mediated stimulatory signaling pathway, positive regulation of glial cell proliferation, regulation of release of sequestered calcium ion into cytosol, positive regulation of cellular component movement, leukocyte migration, regulation of B cell receptor signaling pathway, regulation of B cell receptor signaling pathway, B cell receptor signaling pathway, negative regulation of immune response, regulation of inflammatory response, response to axon injury, ephrin receptor signaling pathway, protein autophosphorylation, positive regulation of Ras protein signal transduction, regulation of erythrocyte differentiation, innate immune response, positive regulation of phosphatidylinositol 3-kinase activity, negative regulation of MAP kinase activity, regulation of mast cell degranulation, regulation of mast cell degranulation, response to amino acid, positive regulation of tyrosine phosphorylation of STAT protein, response to drug, regulation of cell population proliferation, Fc-gamma receptor signaling pathway involved in phagocytosis, Fc-epsilon receptor signaling pathway, peptidyl-tyrosine autophosphorylation, intracellular signal transduction, cellular response to heat, negative regulation of toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, negative regulation of toll-like receptor 2 signaling pathway, regulation of cell adhesion mediated by integrin, regulation of mast cell activation, response to insulin, cellular response to extracellular stimulus, lipopolysaccharide-mediated signaling pathway, T cell costimulation, neuron projection development, negative regulation of B cell proliferation, positive regulation of cell migration, erythrocyte differentiation, platelet activation, cell differentiation, peptidyl-tyrosine phosphorylation, viral process, response to organic cyclic compound, positive regulation of phosphatidylinositol 3-kinase signaling, oligodendrocyte development, positive regulation of neuron projection development, response to carbohydrate, response to hormone, response to toxic substance, negative regulation of cell population proliferation, positive regulation of cell population proliferation, blood coagulation, transmembrane receptor protein tyrosine kinase signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, signal transduction, response to sterol depletion, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, protein phosphorylation, regulation of B cell apoptotic process, Fc receptor mediated inhibitory signaling pathway, immune response-regulating cell surface receptor signaling pathway, immune response-regulating cell surface receptor signaling pathway, negative regulation of myeloid leukocyte differentiation, platelet degranulation, platelet degranulation, histamine secretion by mast cell, tolerance induction to self antigen, tolerance induction to self antigen, tolerance induction to self antigen, Fc receptor mediated stimulatory signaling pathway, Fc receptor mediated stimulatory signaling pathway, adaptive immune response, stimulatory C-type lectin receptor signaling pathway, positive regulation of protein phosphorylation, negative regulation of protein phosphorylation, regulation of protein phosphorylation, regulation of cytokine production, regulation of cytokine production, cytokine production, B cell homeostasis, 16424 14805 19616 5135 9396 7952 6573 8242 6811 ENSG00000254088 chr8 86503591 86505061 + SLC2A3P4 processed_pseudogene 1 1 0 1 0 1 0 2 3 ENSG00000254089 chr8 93259667 93297976 + AC016885.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254090 chr8 33015261 33017043 + MTND2P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254091 chr8 9233013 9233449 + AC022784.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254092 chr8 20952645 20973877 - AC015468.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254093 chr8 10764963 10839884 - PINX1 protein_coding 54984 GO:0005819, GO:0005730, GO:0005730, GO:0005654, GO:0000781, GO:0000777, GO:0000776, GO:0000228, spindle, nucleolus, nucleolus, nucleoplasm, chromosome, telomeric region, condensed chromosome kinetochore, kinetochore, nuclear chromosome, GO:0070034, GO:0044877, GO:0010521, GO:0010521, GO:0010521, GO:0010521, GO:0005515, telomerase RNA binding, protein-containing complex binding, telomerase inhibitor activity, telomerase inhibitor activity, telomerase inhibitor activity, telomerase inhibitor activity, protein binding, GO:1904751, GO:1904744, GO:1904357, GO:1902570, GO:0070198, GO:0051974, GO:0051974, GO:0051974, GO:0051972, GO:0032211, GO:0032211, GO:0031647, GO:0031397, GO:0010972, GO:0008285, GO:0007080, GO:0007004, positive regulation of protein localization to nucleolus, positive regulation of telomeric DNA binding, negative regulation of telomere maintenance via telomere lengthening, protein localization to nucleolus, protein localization to chromosome, telomeric region, negative regulation of telomerase activity, negative regulation of telomerase activity, negative regulation of telomerase activity, regulation of telomerase activity, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, regulation of protein stability, negative regulation of protein ubiquitination, negative regulation of G2/M transition of mitotic cell cycle, negative regulation of cell population proliferation, mitotic metaphase plate congression, telomere maintenance via telomerase, 5 10 7 12 6 3 7 9 9 ENSG00000254094 chr4 1356581 1358075 + AC078852.2 sense_intronic 6 2 2 0 1 0 3 5 7 ENSG00000254095 chr8 31339197 31346479 + AC068672.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000254097 chr2 89989987 89990221 + IGKV3D-25 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254098 chr2 89196096 89196829 - IGKV2-26 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254099 chr5 141970637 141982687 - AC005740.3 antisense 2 2 18 10 9 14 8 6 13 ENSG00000254101 chr8 135859369 137092183 + LINC02055 lincRNA 107986980 0 0 2 0 0 0 0 0 0 ENSG00000254102 chr8 64574306 64581888 - AC090136.3 antisense 401463 0 0 0 0 0 0 0 0 0 ENSG00000254103 chr8 58503588 58504068 + PPIAP85 processed_pseudogene 0 0 0 0 0 0 2 1 0 ENSG00000254104 chr8 264315 264672 + AC136777.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254105 chr8 73651289 73651602 + VENTXP6 processed_pseudogene 1 0 0 0 0 0 0 0 2 ENSG00000254106 chr5 109883182 109884751 + LINC01848 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000254109 chr8 30382119 30385401 - RBPMS-AS1 antisense 100128750 0 0 0 0 0 0 0 0 0 ENSG00000254111 chr8 37560366 37565377 + AC124067.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254112 chr8 98633547 98633865 + AP003467.2 processed_pseudogene 0 2 1 2 4 2 4 0 0 ENSG00000254113 chr8 123563070 123568762 - AC090193.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254114 chr17 60851382 60851745 + HMGN1P28 processed_pseudogene 2 0 0 0 0 1 2 1 3 ENSG00000254115 chr8 86707547 86765023 + AC090572.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254118 chr8 46837578 46838706 - MTCYBP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254119 chr8 61785047 61944180 + AC025524.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254120 chr8 61889839 61894206 + LINC02155 lincRNA 111082988 0 0 0 0 0 0 0 0 0 ENSG00000254122 chr5 141417645 141512979 + PCDHGB7 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56099 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 1 1 0 0 0 0 0 0 ENSG00000254123 chr8 82098451 82160577 - AC027701.1 lincRNA 105375929 0 0 0 0 0 0 0 0 0 ENSG00000254124 chr8 111225585 111227049 + EEF1A1P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254126 chr2 106487364 106544297 + CD8B2 protein_coding 927 GO:0016021, GO:0009986, GO:0005886, integral component of membrane, cell surface, plasma membrane, GO:0042288, GO:0015026, MHC class I protein binding, coreceptor activity, GO:0050776, GO:0002250, regulation of immune response, adaptive immune response, 4 0 1 2 1 2 0 2 0 ENSG00000254127 chr22 32199919 32200234 + IGLCOR22-1 IG_C_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254129 chr8 29110573 29140729 + AC108449.1 antisense 3 6 8 3 5 10 2 2 1 ENSG00000254130 chr5 166905222 166926370 - LINC01947 lincRNA 102557615 0 0 0 0 0 0 0 0 0 ENSG00000254131 chr8 42484600 42485019 + AC093367.1 processed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000254132 chr5 94568929 94569470 - MTND6P3 processed_pseudogene 2 0 0 0 0 2 0 0 0 ENSG00000254134 chr14 106821174 106821414 - IGHVII-74-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254135 chr5 158485190 158588546 + AC091939.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254136 chr8 51996210 52008355 - AC064807.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254138 chr5 31093977 31267610 - AC113386.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254139 chr8 57746149 57750199 + AC104051.2 lincRNA 286178 0 0 0 1 0 0 0 0 0 ENSG00000254141 chr8 105669991 105679031 + AC103853.2 sense_intronic 0 0 0 3 0 0 0 0 0 ENSG00000254143 chr8 40161458 40172612 + AC022733.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254144 chr8 143542110 143542400 + AC067930.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254145 chr8 43539137 43539472 + AC134698.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254146 chr8 107173200 107173809 - HMGB1P46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254150 chr8 59557528 59557855 - AC087664.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254151 chr8 81617220 81618560 - NIPA2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254152 chr8 30349866 30350347 - PPIAP84 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254153 chr8 8456909 8461337 - AC103957.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254154 chr1 177928788 178038007 - CRYZL2P-SEC16B processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000254156 chr8 46838788 46839205 + MTND6P20 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254157 chr2 89128724 89129483 - IGKV2-18 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254158 chr5 178997969 178998815 - AC104117.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254160 chr8 1246789 1248760 - AC110288.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254161 chr22 22070225 22070707 + IGLVIV-65 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254162 chr8 80535006 80539135 - AC009812.3 lincRNA 1 0 1 1 0 0 0 0 0 ENSG00000254163 chr5 156704058 156739812 - AC025434.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254164 chr5 173574938 173576275 + AC008663.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254165 chr8 42537529 42538304 - AC090739.1 antisense 6 7 8 34 14 31 13 4 14 ENSG00000254166 chr8 127072694 127227541 - CASC19 processed_transcript 103164619 0 3 0 0 0 0 4 1 0 ENSG00000254167 chr14 106583506 106583807 - IGHVIII-51-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254170 chr5 78708734 78716082 - AC008802.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254171 chr5 166128498 166155439 + AC114321.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254172 chr8 30643689 30643802 + RNU5A-3P snRNA 1 0 0 0 0 0 0 0 3 ENSG00000254174 chr14 106122420 106122709 - IGHV1-12 IG_V_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000254175 chr22 22397032 22397524 + IGLVI-42 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254176 chr14 106823687 106824147 - IGHV3-75 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254177 chr8 81058523 81067744 + AC079209.2 lincRNA 9 13 7 6 19 8 13 4 3 ENSG00000254178 chr8 25834129 25840135 - AC090103.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254180 chr8 90534611 90620070 - AB015752.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254181 chr8 80594815 80595703 - SLC25A51P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254182 chr8 90701082 90701876 + AC106038.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254183 chr8 141968091 141968841 - AC104417.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254185 chr8 109470131 109471117 + MAPK6P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254186 chr5 162424042 163437326 - AC113414.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254187 chr5 167653228 167660481 - AC008708.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254189 chr8 83099976 83100846 - AC090095.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254190 chr8 94590115 94590259 + AC023632.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254192 chr5 168654513 168667761 + AC011365.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254193 chr8 150584 150728 - AC131281.2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000254194 chr8 33973701 34009595 - AF279873.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254195 chr8 84162118 84162471 + TPM3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254197 chr8 141278228 141292862 + AC011676.3 lincRNA 10 13 12 30 26 18 32 33 24 ENSG00000254198 chr8 43125995 43126397 - AC113191.1 processed_pseudogene 13 6 6 1 13 13 17 3 4 ENSG00000254200 chr5 173225836 173226423 - RPL7AP33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254201 chr8 19246350 19249240 + AC068880.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254202 chr8 83912713 84140283 + AC015522.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254203 chr14 106367385 106367664 - IGHVII-33-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254204 chr8 53515170 53515905 + AC022034.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254205 chr8 80122852 80127670 + AC009686.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254206 chr16 29381354 29404029 - NPIPB11 protein_coding 728888 GO:0016021, GO:0005654, GO:0005654, integral component of membrane, nucleoplasm, nucleoplasm, 21 23 32 48 76 55 31 28 31 ENSG00000254207 chr8 725188 725877 - AC100797.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000254208 chr8 85177522 85178150 - AC011773.1 antisense 0 1 0 6 4 3 0 0 0 ENSG00000254209 chr8 121671773 121684562 - AC104233.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254211 chr5 173786790 173809039 - LINC01485 lincRNA 2 4 8 0 3 0 0 2 0 ENSG00000254212 chr8 84864668 84864907 - AC009901.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254213 chr8 73277364 73278046 - FAM213AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254215 chr14 106120207 106120473 - IGHVIII-11-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254216 chr8 56252960 56253372 - AC107952.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254219 chr8 91042690 91044762 - AC087439.2 processed_transcript 0 0 0 0 1 0 0 0 0 ENSG00000254220 chr2 90052581 90053372 + IGKV2D-18 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254221 chr5 141350102 141512979 + PCDHGB1 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56104 GO:0030426, GO:0005887, growth cone, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000254222 chr8 61264624 61292039 - AC023866.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254224 chr8 96235427 96238034 + AP003465.1 antisense 149 127 238 166 94 246 161 119 114 ENSG00000254225 chr8 51721670 51722164 - BTF3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254226 chr5 151949571 152270448 + LINC01933 lincRNA 101927115 0 0 0 0 0 2 0 0 0 ENSG00000254227 chr8 125998994 126001001 - AC024681.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254228 chr14 106463256 106463691 - IGHV3-42 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254229 chr8 8027077 8032305 - FAM90A12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254230 chr8 22565997 22567171 - AC037459.4 antisense 3 6 1 28 4 20 8 10 19 ENSG00000254231 chr8 86333274 86343314 - AC103760.1 processed_transcript 105375624 1 0 4 3 0 3 0 0 0 ENSG00000254233 chr4 184584093 184625030 - LINC02365 lincRNA 1 7 1 3 4 1 2 2 0 ENSG00000254236 chr8 103020187 103021428 - AP003550.1 antisense 70 40 73 66 48 38 41 39 42 ENSG00000254237 chr8 9371970 9436205 - AC021242.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254238 chr8 75026428 75029460 - AC100782.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254239 chr5 135897637 135900250 + AC002428.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254240 chr22 22715290 22715419 + IGLVI-20 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254241 chr8 110933263 110934533 - MTCO1P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254242 chr8 19091733 19115024 + AC100849.2 lincRNA 105379301 0 0 0 0 0 0 0 0 0 ENSG00000254244 chr8 4787332 4788584 + PAICSP4 processed_pseudogene 0 0 1 3 1 1 2 0 1 ENSG00000254245 chr5 141343829 141512979 + PCDHGA3 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56112 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0060989, GO:0008333, GO:0007156, GO:0007155, lipid tube assembly involved in organelle fusion, endosome to lysosome transport, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 4 0 0 ENSG00000254246 chr5 157104788 157114900 + AC011377.1 antisense 0 0 0 0 0 2 0 3 0 ENSG00000254247 chr8 118982579 118982875 - AC107953.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254248 chr8 95071732 95087924 - AC068189.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254249 chr8 124036010 124040468 - AC100871.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254251 chr8 90806474 90859240 - AC103770.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254252 chr5 166028567 166029311 - RPL7P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254253 chr8 67569416 67570078 + NACAP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254254 chr8 56445807 56552067 + AC012349.1 antisense 101929415 0 0 1 0 0 0 2 0 2 ENSG00000254255 chr8 131712512 131712980 + AC060788.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254256 chr5 171365595 171367693 + RPSAP71 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254258 chr8 139460062 139463016 - AC087354.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254260 chr8 20941428 20950175 + AC015468.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254261 chr9 26746953 26786874 + AL451137.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254263 chr8 129890465 129901758 + AC022973.3 lincRNA 19 28 32 12 23 11 13 13 16 ENSG00000254264 chr22 16925952 16926444 - IGKV3OR22-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254265 chr8 1730206 1731452 + AC100810.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254266 chr8 78426103 78558503 - PKIA-AS1 lincRNA 101927003 0 0 0 0 0 0 4 0 0 ENSG00000254268 chr8 49352630 49352844 - RFPL4AP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254270 chr7 139534240 139534549 + ERHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254271 chr10 60734342 60741828 + AC022390.1 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000254272 chr8 22492631 22493044 + AC087854.1 processed_pseudogene 0 0 1 0 0 0 3 0 0 ENSG00000254273 chr8 73511276 73511654 - AC018620.1 processed_pseudogene 1 0 1 0 0 0 0 0 0 ENSG00000254274 chr8 54073114 54073566 + TDGF1P5 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000254275 chr8 128405269 128564679 - LINC00824 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000254277 chr8 71675300 71702786 + AC009446.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254278 chr8 119062942 119068782 - AC107953.2 antisense 101927513 0 0 0 0 0 0 0 0 0 ENSG00000254279 chr14 105945210 105945389 - IGHVII-1-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254283 chr8 94594411 94594601 + AC023632.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254285 chr8 61578220 61579668 + KRT8P3 processed_pseudogene 3 0 1 0 0 0 0 2 0 ENSG00000254287 chr8 39918076 39920890 - AC007991.4 antisense 0 2 14 0 0 0 0 1 0 ENSG00000254288 chr8 74052340 74099853 + AC087672.2 lincRNA 13 11 9 7 27 9 11 21 13 ENSG00000254289 chr14 106331106 106331563 - IGHV3-32 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254290 chr8 37597480 37599858 - AC124067.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254291 chr8 141326130 141327137 + AC011676.4 antisense 0 2 1 0 1 2 0 1 0 ENSG00000254292 chr2 90121786 90122564 + IGKV2D-14 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254293 chr5 154483917 154486150 - AC026688.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254294 chr8 123400582 123402095 + IMPDH1P6 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000254295 chr5 172954907 172957162 + AC008429.3 lincRNA 6 7 11 10 9 4 3 15 6 ENSG00000254297 chr5 167296234 167303372 - AC091820.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254298 chr5 151158106 151158462 - AC008641.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254299 chr5 172557392 172559014 - LINC01944 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254300 chr8 76406654 76524356 + LINC01111 lincRNA 101926978 0 0 0 0 0 0 0 0 0 ENSG00000254302 chr8 34174886 34184895 + AC087855.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254303 chr8 121954640 122127184 - AC037486.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254305 chr8 76603240 76603852 - MRPL9P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254306 chr8 37600537 37625873 - AC137579.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254307 chr8 94791643 94793106 - AP003692.1 antisense 3 0 0 5 0 5 1 0 4 ENSG00000254308 chr22 22179228 22179477 + IGLVIV-59 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254309 chr8 36121398 36121683 - AC124290.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254310 chr5 78753596 78753873 + AC025755.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254311 chr8 8116745 8116949 - SNRPCP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254312 chr8 98906260 98906517 - MRPL57P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254313 chr8 133786093 133786268 - AC090821.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254314 chr8 52150820 52154892 + AC021915.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254315 chr8 94533628 94534391 + AC023632.5 antisense 0 0 0 0 3 2 0 1 0 ENSG00000254316 chr8 30249502 30250092 - AC090820.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254317 chr8 129832301 129844504 + AC022973.4 antisense 85 83 100 152 205 167 179 118 131 ENSG00000254319 chr8 2666079 2728451 - AC246817.2 lincRNA 101927815 0 0 0 0 0 0 0 0 0 ENSG00000254320 chr8 36321039 36321404 - AP006245.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254321 chr8 38700626 38704855 - AC016813.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254324 chr8 140732564 140732653 - MIR151A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442893 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000254325 chr8 55893595 55895739 + AC018607.1 sense_intronic 26 22 26 7 6 14 9 14 13 ENSG00000254326 chr14 106317823 106318236 - IGHV7-27 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254328 chr5 172986680 172987198 + AC008429.4 processed_pseudogene 0 0 0 16 10 27 10 15 17 ENSG00000254329 chr14 106637718 106637973 - IGHVII-60-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254330 chr8 64703774 64734459 - AC104232.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000254331 chr8 80644939 80645173 - CKS1BP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254332 chr8 69129598 69130345 + AF201337.1 processed_pseudogene 4 5 3 2 5 2 6 0 3 ENSG00000254333 chr5 150475531 150485968 - NDST1-AS1 lincRNA 102546298 10 26 54 8 5 2 7 9 7 ENSG00000254334 chr8 21298206 21309449 + AC021355.1 lincRNA 101929172 0 0 0 0 0 0 0 0 0 ENSG00000254335 chr5 70860285 70860579 - CDH12P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254336 chr5 157604707 157605637 - AC008694.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254337 chr8 68848742 68852763 - AC083967.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254338 chr8 143417679 143419150 + MAFA-AS1 antisense 104326051 0 0 0 0 0 0 0 1 0 ENSG00000254339 chr8 114282067 114295839 + AC064802.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254340 chr8 9141424 9145435 + AC022784.5 antisense 165 168 245 34 76 60 46 67 74 ENSG00000254341 chr8 66922467 66922555 - SNORD87 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000254342 chr8 43372559 43372677 + AC022616.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254343 chr8 120052180 120056201 + AC091563.1 lincRNA 0 0 1 2 0 0 0 0 0 ENSG00000254344 chr8 34784052 34864798 + LINC01288 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254345 chr2 90009402 90009927 + IGKV2D-23 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254346 chr8 33014081 33015026 + MTND1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254347 chr8 72462311 72470972 + AC011131.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254348 chr8 47189305 47189560 + AC120036.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254349 chr8 74599775 74823313 + MIR2052HG lincRNA 441355 0 0 0 0 0 0 0 0 0 ENSG00000254350 chr5 158424585 158452758 + AC091979.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254351 chr5 162761833 162762313 + ARL2BPP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254352 chr8 78723796 78724136 - AC100854.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254355 chr22 22032745 22033194 + IGLVI-68 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254357 chr8 55517240 55520977 - AC090200.1 antisense 105375843 0 0 0 0 0 0 0 0 0 ENSG00000254358 chr8 50762460 50762798 - CYCSP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254361 chr8 137852327 137929044 + AC046195.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254362 chr8 26440491 26442595 + AC011726.3 sense_intronic 0 1 3 0 1 4 0 0 0 ENSG00000254363 chr5 140157319 140173051 + AC011379.2 processed_transcript 101929719 2 0 3 5 10 6 10 4 18 ENSG00000254364 chr8 100492528 100493713 + AP000424.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000254365 chr5 167287320 167294273 - AC091820.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254366 chr8 77399072 77537290 + AC062004.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254367 chr8 8723693 8782479 - AC087269.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254369 chr7 27129977 27155928 + HOXA-AS3 antisense 100133311 1 0 0 0 5 0 2 2 0 ENSG00000254370 chr8 28415524 28420055 - AC025871.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000254372 chr8 135455865 135456952 - AC040914.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254373 chr5 160258253 160258585 + AC112191.2 processed_pseudogene 5 4 4 4 17 9 6 8 8 ENSG00000254376 chr8 87788562 87789688 - SOX5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254377 chr8 64373328 64383787 + MIR124-2HG lincRNA 100130155 0 0 0 0 0 0 0 0 0 ENSG00000254380 chr8 85523899 85540511 + AC093331.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254381 chr12 38201566 38203792 + TUBB8P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254383 chr8 40900016 40901854 - AC048387.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254384 chr8 36278960 36279483 + MTND6P19 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254387 chr8 93849561 93850075 + MYL12AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254388 chr8 123352181 123352643 + DUTP2 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000254389 chr8 143366631 143368548 - RHPN1-AS1 antisense 78998 GO:0005515, protein binding, 0 2 2 2 2 0 0 2 0 ENSG00000254391 chr5 160685351 160692889 + AC011363.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254392 chr8 50490795 50491465 + AC090539.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254394 chr8 82912104 82961926 + AC105031.3 lincRNA 101927141 0 0 0 0 0 0 0 0 0 ENSG00000254395 chr14 106606101 106606551 - IGHV4-55 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254396 chr9 27102630 27104728 + AL355432.1 lincRNA 42 9 8 8 10 0 12 6 0 ENSG00000254397 chr11 9430356 9433486 - AC132192.1 antisense 0 1 1 2 4 0 0 1 0 ENSG00000254398 chr15 28679405 28682252 - AC055876.2 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000254399 chr11 59042737 59050971 + GLYATL1P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254400 chr11 6603642 6604420 - AC091564.2 antisense 59 43 81 24 62 29 32 23 40 ENSG00000254401 chr11 11020883 11183611 + AC111188.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254402 chr8 144522377 144527032 - LRRC24 protein_coding 441381 GO:0031012, GO:0016021, GO:0005615, extracellular matrix, integral component of membrane, extracellular space, GO:0051965, positive regulation of synapse assembly, 21 20 29 13 25 26 23 20 30 ENSG00000254403 chr11 59728519 59729492 + OR10Y1P unprocessed_pseudogene 0 0 0 1 2 0 0 0 0 ENSG00000254404 chr11 62213427 62260549 - AP003306.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254406 chr11 119821304 119822129 - AP001994.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254407 chr11 123340174 123340714 - PHBP17 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254408 chr11 49898267 49899186 - OR4A1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254409 chr11 43921059 44001157 + AC087521.3 sense_overlapping 0 2 0 0 0 0 0 0 0 ENSG00000254411 chr11 56495760 56496412 + AP002512.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254412 chr11 49098163 49101168 - AC118273.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254413 chr22 50568869 50582965 - CHKB-CPT1B protein_coding 5 1 1 4 8 2 1 2 5 ENSG00000254415 chr19 51642553 51646801 - SIGLEC14 protein_coding 100049587 GO:0101003, GO:0070821, GO:0016021, GO:0005886, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0033691, GO:0030246, sialic acid binding, carbohydrate binding, GO:0045087, GO:0043312, GO:0007155, innate immune response, neutrophil degranulation, cell adhesion, 476 1 0 90 0 0 233 0 0 ENSG00000254416 chr11 110355130 110406400 + AP000924.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254417 chr11 70072434 70075433 - LINC02584 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254418 chr11 14262846 14273691 - SPON1-AS1 antisense 0 0 0 3 0 0 9 0 7 ENSG00000254419 chr20 58710795 58711633 + AL139349.1 sense_intronic 22 30 26 29 35 28 23 25 24 ENSG00000254420 chr11 78324758 78444049 + AP003086.2 antisense 1 7 4 10 6 9 0 2 2 ENSG00000254422 chr11 102229851 102230922 - AP000942.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254423 chr8 12374366 12375546 - AC087203.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254424 chr11 62072882 62073052 - AP003733.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254425 chr8 13909231 13909780 - AC022690.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254427 chr11 45355371 45366121 + AC103736.1 lincRNA 101928812 0 0 0 0 0 1 0 1 0 ENSG00000254428 chr11 119003742 119004893 - AP003392.1 antisense 15 16 21 18 10 31 20 14 15 ENSG00000254429 chr11 75260127 75261025 + AP001972.1 antisense 47 80 41 86 153 171 118 112 95 ENSG00000254430 chr11 123861822 123862521 - OR6M3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254431 chr8 125348196 125351416 - AC084083.1 antisense 0 0 0 0 5 1 0 0 1 ENSG00000254432 chr8 60808735 60809606 - AC113143.1 antisense 0 2 3 0 4 3 1 2 4 ENSG00000254433 chr11 106085990 106101975 - AP001001.1 antisense 29 21 30 9 4 6 15 2 4 ENSG00000254434 chr11 80321620 80327911 - AP006295.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254436 chr11 90098421 90098817 - AP000648.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254437 chr11 80957317 80957634 + AP003398.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254438 chr11 13921450 13924863 - AC022240.1 lincRNA 101928132 0 0 0 0 0 0 0 1 0 ENSG00000254440 chr6 138215986 138218491 - PBOV1 protein_coding This intronless gene encodes a protein of unknown function. Its expression is up-regulated in some types of cancer, including prostate, breast, and bladder cancer. [provided by RefSeq, Aug 2011]. 59351 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000254441 chr11 82835509 82837222 + AP001646.1 processed_pseudogene 5 14 12 2 14 2 0 6 9 ENSG00000254442 chr11 134316782 134317088 - AP000859.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254443 chr11 6362799 6365267 + AC068733.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254444 chr11 6108135 6185576 - AC022762.1 sense_overlapping 0 1 0 0 1 2 0 0 0 ENSG00000254445 chr11 111912736 111926871 + HSPB2-C11orf52 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254447 chr11 67735600 67784229 - OR7E11P processed_transcript 0 0 0 0 0 0 1 0 0 ENSG00000254449 chr11 123597946 123599452 - SF3A3P2 processed_pseudogene 0 2 0 4 3 1 0 0 0 ENSG00000254450 chr11 111817214 111829212 - ALG9-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000254451 chr12 75234740 75298508 + AC091534.1 antisense 100130268 0 0 0 0 0 0 0 0 0 ENSG00000254452 chr11 66276779 66277492 - AP001107.2 antisense 771 819 836 365 692 424 433 561 387 ENSG00000254453 chr11 20043846 20049303 - NAV2-AS2 antisense 100874014 0 0 0 0 0 0 0 0 0 ENSG00000254454 chr11 62371146 62373168 + RCC2P6 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000254455 chr11 65145691 65145972 - HIGD1AP10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254456 chr11 25734770 25781758 + AC090592.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254457 chr11 55714799 55715727 + OR5D2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254458 chr11 66312853 66319237 + AP001107.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254459 chr11 77829654 77872262 - AP002812.2 antisense 2 2 7 0 2 0 2 1 4 ENSG00000254460 chr11 75506937 75508391 - AP002815.1 sense_intronic 0 0 0 1 0 0 0 0 5 ENSG00000254461 chr11 66259567 66261834 - AP001107.4 antisense 6 6 7 2 0 11 5 4 1 ENSG00000254462 chr11 57712605 57791586 + TMX2-CTNND1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254463 chr11 43466392 43466871 + PPIAP41 processed_pseudogene 5 1 2 0 1 11 13 1 7 ENSG00000254464 chr11 54662580 54663450 + OR4A3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254465 chr11 23478068 23480430 + THAP12P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254466 chr11 59473315 59479361 + OR4D10 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390197 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000254467 chr11 123668499 123671637 + AP002765.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254468 chr11 112967 125927 - AC069287.1 lincRNA 0 0 1 1 1 0 0 0 0 ENSG00000254469 chr11 71865509 71928654 - AP002495.1 protein_coding 100133315 GO:0005730, nucleolus, GO:0003684, damaged DNA binding, GO:0000012, single strand break repair, 10 4 8 3 2 11 5 7 4 ENSG00000254470 chr11 65775893 65780802 - AP5B1 protein_coding 91056 GO:0030119, GO:0030119, GO:0005765, AP-type membrane coat adaptor complex, AP-type membrane coat adaptor complex, lysosomal membrane, GO:0005515, protein binding, GO:0016197, GO:0016197, GO:0015031, endosomal transport, endosomal transport, protein transport, 4473 4404 5334 1120 2033 1898 2020 1943 1910 ENSG00000254471 chr11 79987513 79989630 + AP001284.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254472 chr11 49915013 49915644 - OR4A49P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254473 chr9 83707594 83713378 + AL354920.1 antisense 73 79 77 35 32 22 26 22 39 ENSG00000254475 chr11 75131138 75131880 - OR2AT1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254477 chr11 59752578 59754975 - AP000640.1 processed_transcript 138 118 183 72 102 115 97 88 114 ENSG00000254478 chr11 118821895 118822084 + AP004609.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254479 chr11 85934737 85935663 + SLC25A1P1 processed_pseudogene 1 0 0 5 8 11 2 2 4 ENSG00000254480 chr11 4187140 4202655 + AC015689.1 lincRNA 100506082 0 0 0 0 0 0 0 0 0 ENSG00000254481 chr11 134123828 134124329 - PTP4A2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254482 chr11 109637468 109638128 - AP003102.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254483 chr9 97238645 97246184 + SUGT1P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254484 chr11 70319928 70321415 + AP002336.1 sense_intronic 8 5 7 17 37 13 18 13 27 ENSG00000254485 chr3 9292588 9363303 - AC026191.1 antisense 13 7 13 2 3 5 9 2 0 ENSG00000254486 chr11 12030875 12061785 + LINC02547 lincRNA 105376554 0 0 0 0 0 0 0 0 0 ENSG00000254487 chr11 49817778 49825553 + AC130364.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254488 chrY 21038289 21044724 - AC007876.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254489 chr11 30584130 30630508 + MPPED2-AS1 antisense 105376609 0 0 0 0 0 0 0 0 0 ENSG00000254490 chr11 56500300 56501271 - OR5M7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254491 chr8 13583889 13584533 - AC022832.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254492 chr8 102154550 102154725 + AP001328.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254495 chr11 70358198 70358677 - AP000487.2 antisense 1 8 3 0 0 6 0 0 0 ENSG00000254496 chr11 49406190 49406714 + CBX3P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254497 chr11 45253884 45254649 + AC103681.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254498 chr11 36696317 36697867 + AC104042.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254499 chr22 50740593 50743520 - AC002056.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254500 chr11 74652636 74652911 + RANP3 processed_pseudogene 0 0 0 0 2 0 0 0 2 ENSG00000254501 chr11 65110714 65111695 - AP003068.1 antisense 29 40 57 79 53 66 42 41 69 ENSG00000254502 chr11 86195132 86196266 + AP003097.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254503 chr19 17417031 17418288 - AC010319.1 processed_pseudogene 3 8 12 2 8 24 5 4 11 ENSG00000254505 chr14 24209583 24213869 - CHMP4A protein_coding CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]. 29082 GO:0031902, GO:0030659, GO:0030496, GO:0030117, GO:0009898, GO:0009898, GO:0005886, GO:0005829, GO:0005771, GO:0005768, GO:0005737, GO:0005634, GO:0000815, GO:0000815, GO:0000815, late endosome membrane, cytoplasmic vesicle membrane, midbody, membrane coat, cytoplasmic side of plasma membrane, cytoplasmic side of plasma membrane, plasma membrane, cytosol, multivesicular body, endosome, cytoplasm, nucleus, ESCRT III complex, ESCRT III complex, ESCRT III complex, GO:0051117, GO:0042803, GO:0042802, GO:0008289, GO:0005515, ATPase binding, protein homodimerization activity, identical protein binding, lipid binding, protein binding, GO:1902902, GO:1901215, GO:0097320, GO:0097320, GO:0061952, GO:0051258, GO:0039702, GO:0039702, GO:0039702, GO:0036258, GO:0032511, GO:0019058, GO:0016236, GO:0016197, GO:0010324, GO:0007080, GO:0006997, GO:0006900, GO:0006900, GO:0006900, GO:0006620, negative regulation of autophagosome assembly, negative regulation of neuron death, plasma membrane tubulation, plasma membrane tubulation, midbody abscission, protein polymerization, viral budding via host ESCRT complex, viral budding via host ESCRT complex, viral budding via host ESCRT complex, multivesicular body assembly, late endosome to vacuole transport via multivesicular body sorting pathway, viral life cycle, macroautophagy, endosomal transport, membrane invagination, mitotic metaphase plate congression, nucleus organization, vesicle budding from membrane, vesicle budding from membrane, vesicle budding from membrane, posttranslational protein targeting to endoplasmic reticulum membrane, 28 23 31 25 26 39 46 18 22 ENSG00000254506 chr11 101584295 101595156 + AP003080.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254507 chr8 12003400 12004082 - DEFB131E transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254508 chr11 33774699 33775670 + FBXO3-DT antisense 101928440 0 0 0 0 0 0 0 0 0 ENSG00000254509 chr11 124791228 124791660 + AP000866.3 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000254510 chr11 66409158 66417137 + AP001107.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000254511 chr11 81970994 81987813 + AP002802.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254512 chr11 43733759 43734564 + PHBP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254514 chr11 45582525 45583474 + AC103855.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254515 chr11 121238304 121238688 + AP001124.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254516 chr11 37938601 37954663 + AC103798.1 lincRNA 105376633 0 0 0 0 0 0 0 0 0 ENSG00000254517 chr11 48959928 48961810 + AC027369.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254518 chr11 50298579 50304656 + AC109635.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254519 chr11 45722308 45744254 + AC044839.1 processed_transcript 100507384 0 0 0 0 0 0 0 0 0 ENSG00000254521 chr19 51491357 51501789 - SIGLEC12 protein_coding Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 89858 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0033691, GO:0030246, GO:0005515, sialic acid binding, carbohydrate binding, protein binding, GO:0007155, cell adhesion, 7 4 2 2 1 0 0 0 0 ENSG00000254522 chr11 83040806 83041403 - AP001767.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254524 chr11 56097244 56097384 - OR8I4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254526 chr11 29159956 29266734 + AC090791.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254527 chr8 12205759 12206389 - ENPP7P12 processed_pseudogene 3 1 2 0 0 0 0 3 0 ENSG00000254528 chr11 117833719 117838942 + AP000757.1 antisense 0 0 3 1 0 0 0 2 1 ENSG00000254529 chr11 18863558 18864509 - AC023078.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254530 chr11 29335878 29594295 - AC090124.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254531 chr4 101347780 101348883 + FLJ20021 lincRNA 90024 9 11 22 11 14 2 11 21 7 ENSG00000254532 chr11 30044058 30084343 - AC124657.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254533 chr8 144698614 144699185 - AF186192.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254534 chr11 101765935 101769961 - AP000776.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254535 chr4 134196333 134201748 - PABPC4L protein_coding 132430 GO:1990904, GO:0010494, GO:0005829, GO:0005634, ribonucleoprotein complex, cytoplasmic stress granule, cytosol, nucleus, GO:0008266, GO:0008143, GO:0003730, GO:0003723, poly(U) RNA binding, poly(A) binding, mRNA 3'-UTR binding, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000254536 chr10 133390834 133420495 + AL360181.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254537 chr11 33403216 33403605 + AL137161.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254538 chr8 73670441 73732897 + AC027018.1 lincRNA 1 2 0 0 1 1 0 2 0 ENSG00000254539 chr1 149048576 149051273 + AC239804.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254540 chr11 22361213 22362294 - AC040936.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254541 chr11 18886933 18887920 - AC023078.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254542 chr11 19978699 19981337 - NAV2-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254543 chr8 7891003 7892555 - HSPD1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254544 chr11 19274540 19275269 - PCNAP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254545 chr1 31789130 31791322 + AL354919.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254546 chr11 18196657 18197337 + AC090099.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254547 chr11 55867569 55874537 - AC036111.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254548 chr8 143718246 143718891 - AC105219.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254550 chr11 77102840 77103331 + OMP protein_coding Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man. The OMP gene structure and protein sequence are highly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. [provided by RefSeq, Jul 2008]. 4975 GO:0045202, GO:0043025, GO:0030424, GO:0005829, GO:0005634, synapse, neuronal cell body, axon, cytosol, nucleus, GO:0022008, GO:0007608, GO:0007268, GO:0007165, neurogenesis, sensory perception of smell, chemical synaptic transmission, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000254551 chr11 83209431 83213379 - AP000873.3 antisense 18 6 20 8 18 21 7 11 17 ENSG00000254552 chr2 167123904 167140955 - XIRP2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254553 chr1 32465057 32600792 + AL033529.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254554 chr11 10302657 10303704 - AC080023.1 antisense 45 49 76 63 49 168 82 70 131 ENSG00000254555 chr11 97908253 97908537 - AP003730.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254556 chr8 11136898 11138607 - AF131215.2 sense_intronic 0 0 1 0 0 0 1 0 0 ENSG00000254557 chr8 69713390 69719722 + AC091047.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254558 chr11 89863848 89865550 - AP005435.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254559 chr11 203623 205470 + AC069287.2 antisense 211 244 240 74 89 46 72 91 44 ENSG00000254560 chr11 27047186 27220113 - BBOX1-AS1 antisense 103695435 0 0 0 0 0 0 0 0 0 ENSG00000254561 chr11 119608423 119659284 + AP003393.1 antisense 0 0 0 0 1 0 0 0 1 ENSG00000254562 chr11 38646451 38686323 + LINC01493 lincRNA 101928536 0 0 0 0 0 0 0 0 0 ENSG00000254563 chr11 78749250 78756480 + AP002768.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254564 chr11 23431677 23431799 + AC100767.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254565 chr11 103406213 103407241 - MTND2P26 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000254566 chr11 36321158 36323440 - AC087277.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254567 chr11 49133653 49134800 - UBTFL9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254568 chr11 124883691 124887789 + AP003501.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254569 chr11 104873264 104873417 + AP002004.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254571 chr9 99915077 99929896 - AL358937.1 antisense 16 9 18 8 8 31 5 12 11 ENSG00000254572 chr11 122613444 122614486 - GLULP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254573 chr11 134563396 134573056 + AP004550.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254574 chr8 143709007 143713584 - AC105219.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254575 chr8 14161297 14165359 + AC022039.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254576 chr11 55506635 55511169 + OR4C1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254577 chr11 43390283 43395495 + AC087276.1 sense_overlapping 2 9 6 8 4 7 4 7 4 ENSG00000254578 chr8 144463817 144465101 + AC084125.1 antisense 3 3 5 23 7 2 1 2 3 ENSG00000254579 chr11 40444371 40513269 - AC090720.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254580 chr11 106112459 106132116 - AP001001.2 lincRNA 105369473 0 0 0 0 0 0 0 0 0 ENSG00000254581 chr8 12676035 12676389 - AC068587.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254582 chr11 87329407 87330052 - PSMA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254583 chr11 13478333 13479037 + AC021269.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254584 chr11 32035981 32041318 - AL035078.1 antisense 100506675 0 0 0 0 0 0 0 0 0 ENSG00000254585 chr15 23643549 23647867 - MAGEL2 protein_coding Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]. 54551 GO:0030904, GO:0005829, GO:0005769, GO:0005768, GO:0005634, retromer complex, cytosol, early endosome, endosome, nucleus, GO:0005515, GO:0004842, protein binding, ubiquitin-protein transferase activity, GO:0070534, GO:0051127, GO:0048511, GO:0045892, GO:0042752, GO:0042147, GO:0034314, protein K63-linked ubiquitination, positive regulation of actin nucleation, rhythmic process, negative regulation of transcription, DNA-templated, regulation of circadian rhythm, retrograde transport, endosome to Golgi, Arp2/3 complex-mediated actin nucleation, 0 0 0 0 0 0 0 0 0 ENSG00000254586 chr11 17695022 17697471 + AC124301.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000254587 chr11 96590317 96713822 + AP003066.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254588 chr11 128526142 128530389 + ETS1-AS1 antisense 101929517 0 0 0 0 0 0 4 0 0 ENSG00000254589 chr11 58242043 58243097 - EIF4A2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254590 chr11 119402792 119404088 + AP003396.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254591 chr11 127657568 127657877 + AP003532.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254592 chr11 3336721 3340630 + AC123788.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254593 chr11 71903194 71904081 + OR7E126P unprocessed_pseudogene 4 4 3 2 7 0 0 4 0 ENSG00000254594 chr11 24235477 24262218 - AC015771.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254595 chr11 6488186 6489377 - AC084337.1 processed_pseudogene 7 11 5 11 15 14 14 10 9 ENSG00000254596 chr11 66454234 66454581 + AP002748.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254598 chr11 11351942 11353357 - CSNK2A3 protein_coding This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012]. 283106 42 52 40 41 18 43 31 26 25 ENSG00000254599 chr11 98676391 98683735 + AP003715.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254601 chr11 58005386 58005705 + CYCSP26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254602 chr11 57638024 57652790 + AP000662.1 sense_overlapping 0 2 1 2 2 1 5 1 0 ENSG00000254603 chr11 56512235 56513171 - OR5M6P unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000254604 chr11 70282367 70363368 - AP002336.2 antisense 5 7 2 6 14 4 14 15 3 ENSG00000254605 chr11 70014858 70021059 - AP003555.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254606 chr11 28516832 28519341 + AC013714.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254607 chr11 126652852 126682104 + AP001783.1 antisense 101929427 0 3 1 0 0 0 0 1 0 ENSG00000254609 chr16 14727282 14733347 - AC136443.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254610 chr11 67934563 67955802 - AC004923.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254612 chr11 127940913 127941654 - AP001000.1 processed_pseudogene 96 67 101 46 70 75 45 64 29 ENSG00000254613 chr11 123839035 123841930 - OR6M2P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254614 chr11 65177606 65181834 - AP003068.2 antisense 728975 13 10 26 8 2 9 6 5 10 ENSG00000254615 chr8 106270144 106272899 + AC027031.2 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000254616 chr11 134173095 134173680 + AP001775.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254617 chr11 89887366 89889991 + AP005435.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254618 chr8 144994886 144995540 + TMED10P1 processed_pseudogene 0 5 3 1 2 6 1 3 0 ENSG00000254619 chr11 33810145 33811178 + AC113192.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254620 chr20 58594417 58603973 + AL050327.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254621 chr11 118833846 118834556 - SETP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254622 chr11 19510890 19519896 - NAV2-AS4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254623 chr8 12341426 12345776 - DEFB108E unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254624 chr11 49923049 49923886 + OR4R3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254625 chr8 6928608 6930473 + AF233439.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254626 chr11 112787304 112795854 + AP003100.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254627 chr11 32064912 32072173 + AL035078.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000254629 chr11 83789977 83791578 - AP002370.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254630 chr11 75635883 75638587 - AP001922.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000254631 chr11 74397549 74485742 + AP001372.1 antisense 0 0 0 0 1 2 0 1 0 ENSG00000254632 chr11 76759916 76768223 - AP003119.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254633 chr9 97276566 97295759 + AL512590.2 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254634 chr16 29425800 29447026 - SMG1P6 unprocessed_pseudogene 8 14 41 22 43 4 1 28 4 ENSG00000254635 chr10 28522652 28532743 - WAC-AS1 antisense 215 228 292 134 226 168 188 172 189 ENSG00000254636 chr10 122454653 122457352 + ARMS2 protein_coding This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]. 387715 GO:0005739, GO:0001917, mitochondrion, photoreceptor inner segment, GO:0005515, protein binding, GO:0001895, retina homeostasis, 0 0 0 0 0 0 0 0 0 ENSG00000254637 chr11 49917391 49918478 - OR4A18P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254638 chr11 112165197 112172606 - AP002884.2 antisense 0 3 4 0 1 3 0 1 1 ENSG00000254639 chr11 46238382 46239267 + AC116021.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000254641 chr11 6608667 6610135 - AC091564.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000254642 chr11 7977481 7977708 + COX6CP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254644 chr8 103568603 103568978 - AC007751.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254645 chr11 15701963 15758898 - AC087379.1 lincRNA 0 1 0 0 1 0 0 0 0 ENSG00000254646 chr11 124516311 124517242 - OR8B10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254647 chr11 2159779 2161341 - INS protein_coding This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]. 3630 GO:0034774, GO:0033116, GO:0031904, GO:0030133, GO:0005796, GO:0005788, GO:0005615, GO:0005576, GO:0005576, GO:0000139, secretory granule lumen, endoplasmic reticulum-Golgi intermediate compartment membrane, endosome lumen, transport vesicle, Golgi lumen, endoplasmic reticulum lumen, extracellular space, extracellular region, extracellular region, Golgi membrane, GO:0042802, GO:0005515, GO:0005179, GO:0005179, GO:0005179, GO:0005159, GO:0005158, GO:0005158, GO:0002020, identical protein binding, protein binding, hormone activity, hormone activity, hormone activity, insulin-like growth factor receptor binding, insulin receptor binding, insulin receptor binding, protease binding, GO:2000252, GO:1990535, GO:1903427, GO:1903076, GO:1902952, GO:1902176, GO:1900273, GO:1900182, GO:0097756, GO:0097755, GO:0090336, GO:0090277, GO:0060267, GO:0060266, GO:0055089, GO:0051897, GO:0051092, GO:0051000, GO:0050995, GO:0050995, GO:0050890, GO:0050709, GO:0050708, GO:0048167, GO:0046889, GO:0046631, GO:0046628, GO:0046628, GO:0046326, GO:0046326, GO:0045922, GO:0045861, GO:0045840, GO:0045821, GO:0045821, GO:0045818, GO:0045725, GO:0045721, GO:0045597, GO:0044267, GO:0043410, GO:0042593, GO:0042177, GO:0042060, GO:0033861, GO:0032880, GO:0032270, GO:0032148, GO:0031954, GO:0030335, GO:0030307, GO:0022898, GO:0014068, GO:0010750, GO:0010750, GO:0010628, GO:0008286, GO:0008286, GO:0008284, GO:0007267, GO:0007186, GO:0006953, GO:0006888, GO:0006521, GO:0006355, GO:0006006, GO:0002674, GO:0001819, negative regulation of feeding behavior, neuron projection maintenance, negative regulation of reactive oxygen species biosynthetic process, regulation of protein localization to plasma membrane, positive regulation of dendritic spine maintenance, negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, positive regulation of long-term synaptic potentiation, positive regulation of protein localization to nucleus, negative regulation of blood vessel diameter, positive regulation of blood vessel diameter, positive regulation of brown fat cell differentiation, positive regulation of peptide hormone secretion, positive regulation of respiratory burst, negative regulation of respiratory burst involved in inflammatory response, fatty acid homeostasis, positive regulation of protein kinase B signaling, positive regulation of NF-kappaB transcription factor activity, positive regulation of nitric-oxide synthase activity, negative regulation of lipid catabolic process, negative regulation of lipid catabolic process, cognition, negative regulation of protein secretion, regulation of protein secretion, regulation of synaptic plasticity, positive regulation of lipid biosynthetic process, alpha-beta T cell activation, positive regulation of insulin receptor signaling pathway, positive regulation of insulin receptor signaling pathway, positive regulation of glucose import, positive regulation of glucose import, negative regulation of fatty acid metabolic process, negative regulation of proteolysis, positive regulation of mitotic nuclear division, positive regulation of glycolytic process, positive regulation of glycolytic process, negative regulation of glycogen catabolic process, positive regulation of glycogen biosynthetic process, negative regulation of gluconeogenesis, positive regulation of cell differentiation, cellular protein metabolic process, positive regulation of MAPK cascade, glucose homeostasis, negative regulation of protein catabolic process, wound healing, negative regulation of NAD(P)H oxidase activity, regulation of protein localization, positive regulation of cellular protein metabolic process, activation of protein kinase B activity, positive regulation of protein autophosphorylation, positive regulation of cell migration, positive regulation of cell growth, regulation of transmembrane transporter activity, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of nitric oxide mediated signal transduction, positive regulation of nitric oxide mediated signal transduction, positive regulation of gene expression, insulin receptor signaling pathway, insulin receptor signaling pathway, positive regulation of cell population proliferation, cell-cell signaling, G protein-coupled receptor signaling pathway, acute-phase response, endoplasmic reticulum to Golgi vesicle-mediated transport, regulation of cellular amino acid metabolic process, regulation of transcription, DNA-templated, glucose metabolic process, negative regulation of acute inflammatory response, positive regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000254648 chr11 134035832 134037107 - AP000911.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254649 chr11 78388061 78392405 + AP003086.3 antisense 3 12 2 2 2 6 3 2 20 ENSG00000254650 chr11 87815035 87816157 - MTCYBP41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254651 chr11 45399448 45400528 + AC018716.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254653 chr11 46116578 46117318 + AC024475.1 lincRNA 1 5 8 2 2 1 1 3 2 ENSG00000254654 chr11 44973902 44978028 + AC068858.1 lincRNA 221122 0 0 0 0 0 0 0 0 0 ENSG00000254655 chr11 89960422 89960624 + AP004607.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254656 chr14 100879753 100903722 - RTL1 protein_coding This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009]. 388015 GO:0016021, integral component of membrane, GO:0007275, multicellular organism development, 0 0 0 0 0 0 0 0 0 ENSG00000254658 chr11 56208985 56215222 - OR8J2 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254659 chr11 109751442 109823847 - AP002444.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254660 chr11 56509573 56510195 + AP002512.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254661 chr11 15910957 15927443 + AC009869.1 lincRNA 105376570 0 0 0 2 0 0 0 0 0 ENSG00000254662 chr11 57325603 57327958 + AP000781.1 antisense 11 10 21 34 19 53 19 13 25 ENSG00000254663 chr11 55318560 55319465 + OR4A11P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254664 chr11 45215815 45235292 - AC103681.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254665 chr11 8693357 8696607 + AC091053.1 antisense 0 1 3 9 2 0 1 0 2 ENSG00000254668 chr11 41797543 41797964 + AC023442.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254669 chr11 35579430 35585310 - AL135934.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254670 chr11 13001090 13009159 - AC084859.1 lincRNA 105376557 0 0 0 0 0 0 0 0 0 ENSG00000254672 chr11 35967010 35968676 - AL136146.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254673 chr8 43018424 43077334 + AC110275.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254674 chr11 48610063 48611000 + OR4A42P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254675 chr11 78022933 78023721 + AP003032.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254676 chr11 83180144 83184520 + AP000873.4 sense_overlapping 11 10 15 314 346 376 269 161 163 ENSG00000254677 chr11 91114724 91115951 - OSBPL9P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254678 chr11 117143891 117144191 - AP005018.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000254680 chr11 12261426 12263173 - AC079329.1 antisense 363 439 360 249 390 247 346 301 192 ENSG00000254681 chr16 18374521 18401940 - PKD1P5 transcribed_unprocessed_pseudogene 2 25 2 6 7 8 5 9 0 ENSG00000254682 chr11 71448674 71452157 + AP002387.1 antisense 6 7 22 12 10 25 17 11 16 ENSG00000254683 chr8 7143632 7143841 - SNRPCP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254684 chr11 85336075 85336572 - AP002803.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254685 chr1 74198212 74234086 + FPGT protein_coding L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]. 8790 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0047341, GO:0005525, GO:0003824, fucose-1-phosphate guanylyltransferase activity, GTP binding, catalytic activity, GO:0006004, fucose metabolic process, 39 28 46 18 18 50 29 44 39 ENSG00000254686 chr11 35656694 35661339 + AL138812.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254687 chr8 53177571 53242683 + AC009646.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254688 chr11 12822435 12823667 - AC013549.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254689 chr8 81842618 81923199 + LINC02235 bidirectional_promoter_lncRNA 0 1 1 2 2 0 0 2 0 ENSG00000254690 chr8 144314590 144315138 - AC233992.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254691 chr11 77850604 77851511 + AP002812.3 antisense 1 1 1 2 2 3 7 5 5 ENSG00000254692 chr14 24189157 24213473 - AL136295.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254693 chr11 44604508 44605337 - AC010768.1 antisense 320 285 523 62 145 97 96 165 131 ENSG00000254694 chr11 126208611 126209027 - AP001893.1 antisense 0 0 0 3 0 3 0 0 0 ENSG00000254695 chr11 15643885 15705368 + AC087379.2 lincRNA 2 2 0 0 3 0 0 1 1 ENSG00000254697 chr11 78581675 78582156 + COPS8P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254698 chr11 82963681 83039115 - AP000893.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000254699 chr11 86192787 86193482 - AP003097.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254700 chr8 12043506 12043670 - DEFB131C processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254701 chr5 70197255 70207745 - AC138866.2 unprocessed_pseudogene 0 1 6 0 0 0 0 0 0 ENSG00000254702 chr11 107736009 107738718 - AP002353.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254703 chr11 128691672 128696023 - SENCR antisense 100507392 23 19 28 13 37 19 29 24 26 ENSG00000254704 chr11 59287339 59289486 - AP002358.2 processed_pseudogene 0 7 5 0 3 0 0 3 0 ENSG00000254705 chr11 92400191 92408176 - AP000722.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254706 chr1 162365407 162383531 + AL512785.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254707 chr11 7705288 7709517 + AC104237.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254708 chr11 34335118 34336003 - AL139174.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000254709 chr22 22887780 22896107 + IGLL5 protein_coding This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. 100423062 GO:0070062, GO:0042571, GO:0009897, extracellular exosome, immunoglobulin complex, circulating, external side of plasma membrane, GO:0034987, GO:0003823, immunoglobulin receptor binding, antigen binding, GO:0050871, GO:0050853, GO:0045087, GO:0042742, GO:0006958, GO:0006911, GO:0006910, positive regulation of B cell activation, B cell receptor signaling pathway, innate immune response, defense response to bacterium, complement activation, classical pathway, phagocytosis, engulfment, phagocytosis, recognition, 0 2 0 0 3 4 1 1 0 ENSG00000254710 chr11 123188802 123228277 + AP001970.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254712 chr11 6843664 6844666 - AC087280.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000254713 chr11 84545131 84546846 - HNRNPA1P72 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254714 chr11 49850629 49862528 + AP006587.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254715 chr8 7705182 7706113 - OR7E154P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254717 chr11 58878302 58893460 + GLYATL1P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254718 chr14 60240121 60248765 - AL157756.1 antisense 101927702 0 2 4 1 0 5 0 0 5 ENSG00000254719 chr11 10272052 10272259 - AC080023.2 processed_pseudogene 8 8 12 2 5 5 10 5 3 ENSG00000254720 chr11 18971746 18972703 - AC023078.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254721 chr11 70206291 70207390 - AP000879.1 antisense 254 162 352 22 26 40 28 34 21 ENSG00000254722 chr11 56331347 56332488 - FAM8A2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254723 chr11 55325756 55326673 + OR4A12P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254724 chr8 12703066 12704056 - OR7E10P unprocessed_pseudogene 0 0 0 0 4 0 0 1 0 ENSG00000254725 chr11 43065686 43066076 - AC009643.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254726 chr1 156072013 156081998 - MEX3A protein_coding 92312 GO:0005829, GO:0005634, GO:0000932, cytosol, nucleus, P-body, GO:0046872, GO:0003723, GO:0003723, metal ion binding, RNA binding, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000254727 chr11 86432098 86432575 + PTP4A1P6 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254728 chr11 48881723 48902181 - AC027369.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254730 chr11 108727741 108730104 - AP002453.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254731 chr11 86703099 86714092 + AP003059.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254732 chr11 57742163 57793243 + AP001931.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254733 chr11 86431590 86622867 + AP001831.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000254734 chr11 29713909 29881714 + AC107973.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254735 chr11 120936102 120936654 - HMGB1P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254736 chr11 66389609 66390168 + BRD9P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254737 chr11 124012997 124018732 + OR10G4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390264 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000254738 chr11 18956055 18957015 - AC023078.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254739 chr11 528907 529659 + AC137894.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254740 chr11 119372706 119381613 + AP003396.3 antisense 2 0 0 1 0 0 0 0 0 ENSG00000254741 chr8 143579636 143580670 + AC067930.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254743 chr11 59741325 59742049 + OR10V3P unprocessed_pseudogene 1 8 11 0 3 5 5 8 0 ENSG00000254744 chr15 99970215 99974010 + AC084855.1 antisense 0 1 2 3 1 3 0 0 0 ENSG00000254746 chr11 45489689 45542474 - AC103855.2 processed_transcript 105376654 0 0 0 0 0 0 0 0 0 ENSG00000254747 chr11 81552226 81552516 + MTND4LP18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254748 chr11 87024583 87025777 + HNRNPCP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254749 chr11 57945598 57946414 - OR5BD1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254750 chr11 105063345 105071541 - CASP1P2 unprocessed_pseudogene 2 1 3 6 0 9 5 2 6 ENSG00000254751 chr11 89776981 89782582 + TRIM64DP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254752 chr11 56476287 56484839 - OR5M2P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254753 chr8 13844101 13849109 - AC022690.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254754 chr11 25924188 25926808 + AC013799.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254755 chr11 76591023 76591211 + AP001189.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254756 chr11 66334494 66339875 + AP001107.6 antisense 0 6 8 5 24 2 9 5 4 ENSG00000254757 chr11 3469319 3531328 + AC127526.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000254758 chr11 107642887 107643871 - AP000889.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254759 chr11 126067539 126068601 + NAP1L1P1 processed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000254760 chr19 51414298 51414965 + AC008750.1 antisense 288 273 302 122 145 82 127 123 80 ENSG00000254762 chr11 66267635 66268129 - AP001107.7 antisense 1 1 2 0 0 9 3 4 13 ENSG00000254764 chr11 48985868 48991881 - TRIM53CP unprocessed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000254765 chr11 9958744 9959790 - AC011092.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254767 chr11 105194440 105194946 - OR2AL1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254768 chr11 22283730 22338245 - AC104009.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254769 chr11 54659666 54660595 + OR4A4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254770 chr11 59531754 59532695 + OR4D7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254771 chr11 126179497 126179698 - AP001893.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254772 chr11 62559601 62574086 - EEF1G protein_coding This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008]. 1937 GO:0070062, GO:0016020, GO:0005829, GO:0005783, GO:0005737, GO:0005737, GO:0005634, GO:0005634, extracellular exosome, membrane, cytosol, endoplasmic reticulum, cytoplasm, cytoplasm, nucleus, nucleus, GO:0045296, GO:0005515, GO:0003746, cadherin binding, protein binding, translation elongation factor activity, GO:0009615, GO:0006414, GO:0006414, response to virus, translational elongation, translational elongation, 0 0 0 0 0 0 0 0 0 ENSG00000254775 chr8 60049587 60074715 + AC021393.1 lincRNA 105375861 0 0 0 0 0 0 0 0 0 ENSG00000254776 chr8 7793716 7795870 - AC084121.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254777 chr8 60910053 60966557 + AC022182.1 lincRNA 11 13 11 46 38 146 51 56 111 ENSG00000254779 chr15 84633874 84634635 + EGLN1P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254780 chr11 47905323 47905607 - AC023232.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254781 chr11 6748131 6750324 + GVINP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254783 chr11 86283927 86284668 + AP003084.1 processed_pseudogene 8 6 7 3 2 7 10 6 10 ENSG00000254784 chr11 38211389 38212799 + LRRC6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254785 chr11 89895799 89900449 - AP005435.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254786 chr11 58995439 58999689 - AP001636.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254787 chr11 84720826 84800701 + AP001825.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254788 chr16 66552587 66579135 + CKLF-CMTM1 protein_coding This locus represents naturally occurring read-through transcription between the neighboring CKLF (chemokine-like factor) and CMTM1 (CKLF-like MARVEL transmembrane domain containing 1) genes on chromosome 16. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]. 100529251 0 0 0 0 0 0 0 0 0 ENSG00000254789 chr11 15571819 15622403 - AC073172.1 lincRNA 34 71 25 5 75 12 12 65 19 ENSG00000254790 chr11 125940496 125941193 - AP000842.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254791 chr11 13669327 13670149 + FAR1-IT1 sense_intronic 2 1 3 0 3 0 4 0 0 ENSG00000254792 chr11 67840942 67841049 + AP003716.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254793 chr15 42939310 42940358 - FDPSP4 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000254794 chr11 87917948 87917999 - AP000676.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254795 chr11 56633164 56634103 - OR5AP1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254796 chr8 7601004 7601267 + AC134684.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254798 chr11 109907004 109907741 - TFAMP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254799 chr11 59263389 59263802 - SLC25A47P1 processed_pseudogene 2 1 1 2 4 0 0 1 7 ENSG00000254800 chr11 49882999 49884093 + AP006587.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254801 chr11 49070752 49071000 - AC084851.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254802 chr8 60965802 60967775 - AC022182.2 lincRNA 3 2 2 4 2 20 4 0 0 ENSG00000254803 chr11 90049945 90050266 + AP004607.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254804 chr11 55684141 55686160 - AP006437.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254805 chr11 71690453 71690657 - SNRPCP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254806 chr20 45363200 45410610 + SYS1-DBNDD2 protein_coding 0 1 0 2 0 0 0 0 0 ENSG00000254807 chr11 55957216 55957630 - OR10AK1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254810 chr11 76654169 76656712 - AP001189.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254811 chr11 106250019 106264905 + AP002001.1 transcribed_unprocessed_pseudogene 101928535 0 0 0 0 0 0 0 0 0 ENSG00000254812 chr8 143632071 143633756 - AC067930.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254813 chr8 12765849 12811478 - AC123777.1 lincRNA 340357 0 0 0 0 0 0 0 0 0 ENSG00000254814 chr11 75800877 75803415 - AP003031.1 antisense 1220 1074 1474 225 378 360 242 358 356 ENSG00000254815 chr11 557595 560107 + AP006284.1 antisense 692247 0 0 2 0 1 0 1 0 0 ENSG00000254816 chr11 21169748 21170137 + AC090857.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254817 chr8 12033646 12034612 - AC107918.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254818 chr11 89944035 89949402 + AP004607.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254819 chr11 26285711 26288007 - AC021698.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254820 chr11 22113448 22117001 + AC107882.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254821 chr6 4135423 4146053 + AL136309.4 antisense 1 0 4 1 7 15 1 0 0 ENSG00000254822 chr11 41876634 41877078 + AC023442.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254823 chr11 123313674 123314770 - AP001782.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254824 chr11 103409580 103409657 - AP003461.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254825 chr11 56751023 56751902 - OR9G2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254826 chr11 75775904 75776929 + AP001922.3 sense_intronic 92 149 108 49 66 70 84 72 86 ENSG00000254827 chr11 2887780 2903740 - SLC22A18AS protein_coding 5003 22 24 4 20 22 7 17 25 12 ENSG00000254828 chr11 55302290 55305060 - AP005597.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254829 chr11 78015715 78016495 + AP003032.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254830 chr11 98938912 98945079 - AP002428.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254831 chr11 5993876 5994995 - KRT18P58 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000254832 chr11 48512273 48513220 + OR4A40P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254833 chr11 126160714 126176035 + AP001893.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254834 chr11 56576736 56577787 - OR5M10 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390167 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000254835 chr22 31205264 31205616 - RNF185-AS1 antisense 210 163 173 108 123 95 122 59 66 ENSG00000254836 chr11 32052843 32053260 - AL035078.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254837 chr11 74493366 74498533 + AP001372.2 bidirectional_promoter_lncRNA 100287896 4 2 3 5 2 1 1 5 4 ENSG00000254838 chr11 6713536 6746439 - GVINP1 transcribed_unprocessed_pseudogene 387751 GO:0005829, GO:0005634, cytosol, nucleus, GO:0005525, GTP binding, 352 381 516 489 348 594 516 319 533 ENSG00000254839 chr8 11062647 11067089 - AF131215.3 lincRNA 101929269 0 0 0 0 0 0 0 0 0 ENSG00000254840 chr11 50307681 50361706 + AC024405.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254841 chr11 55673536 55674675 + OR4V1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254842 chr11 130844191 130865561 - LINC02551 lincRNA 1 0 0 5 3 1 0 3 6 ENSG00000254843 chr11 87094734 87096585 - XIAPP2 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000254844 chr11 117818443 117821992 + AP000757.2 antisense 0 0 0 0 1 0 0 0 20 ENSG00000254846 chr14 20344233 20346888 - AL355075.1 antisense 3 0 1 0 0 2 6 0 5 ENSG00000254847 chr11 12538083 12540967 - AC009806.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254848 chr11 56132666 56133494 - OR5BN1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254850 chr11 67935558 67935926 + AC004923.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254851 chr11 117135528 117138582 + AP005018.2 unprocessed_pseudogene 4 1 3 5 1 3 4 0 8 ENSG00000254852 chr16 14748066 14765413 + NPIPA2 protein_coding 642799 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000254853 chr11 58072378 58075438 - AP004247.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254854 chr11 119729583 119739623 + AP003390.1 antisense 102724301 0 0 0 0 0 2 0 0 0 ENSG00000254855 chr11 66264777 66265666 - AP001107.8 antisense 2 1 1 20 1 14 11 2 6 ENSG00000254856 chr11 68488609 68488840 - NDUFA3P2 processed_pseudogene 0 2 6 0 0 0 1 8 4 ENSG00000254857 chr11 18153277 18154255 + AC090099.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254858 chr19 18193182 18196948 + MPV17L2 protein_coding 84769 GO:0016021, GO:0005762, GO:0005743, GO:0005739, GO:0005737, integral component of membrane, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, cytoplasm, GO:0070131, GO:0061668, GO:0061668, positive regulation of mitochondrial translation, mitochondrial ribosome assembly, mitochondrial ribosome assembly, 17 71 22 24 39 19 7 50 9 ENSG00000254859 chr8 143541973 143549729 - AC067930.4 antisense 1 0 1 0 2 0 0 1 1 ENSG00000254860 chr11 8964675 8977527 + TMEM9B-AS1 antisense 493900 5 18 9 15 23 38 6 22 11 ENSG00000254861 chr11 23761330 23804598 - AC100768.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254862 chr11 27471729 27482433 + AC100771.2 antisense 105376671 0 0 0 0 0 0 0 0 0 ENSG00000254863 chr11 119987954 119995037 - AP001360.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254864 chr11 7568866 7572046 - AC107884.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254865 chr11 10149192 10165109 + AC100763.1 antisense 3 3 8 3 2 6 5 6 9 ENSG00000254866 chr8 12150895 12151134 - DEFB109D processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254867 chr11 65983679 65984331 - AP006287.1 processed_pseudogene 0 0 0 3 0 0 2 1 0 ENSG00000254870 chr6 31530219 31546608 - ATP6V1G2-DDX39B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254871 chr11 46142716 46143594 + AC024475.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254872 chr11 1049880 1055749 + AC139749.1 lincRNA 101927503 0 0 0 0 0 0 0 0 0 ENSG00000254873 chr11 118397095 118401895 - AP001267.1 antisense 642 631 829 669 829 877 597 624 610 ENSG00000254874 chr11 92965797 92966603 + AP003171.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254876 chr9 97238449 97297314 + SUGT1P4-STRA6LP processed_transcript This locus is a fusion of a partial duplication of SUGT1 at the 5' end and the ortholog of mouse 1300002K09Rik (GeneID:74152) at the 3' end. A frameshift disrupts the potential open reading frame, so this locus is considered to be a transcribed pseudogene in humans. In addition, read-through transcripts extending into the downstream locus (GeneID:100499483) are observed. [provided by RefSeq, Aug 2010]. 100499484 4 1 5 7 1 5 7 1 13 ENSG00000254877 chr11 58967596 58968291 - AP001636.2 processed_pseudogene 1 0 0 0 0 4 0 0 0 ENSG00000254878 chr11 16023190 16031515 + AC103794.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254879 chr11 48014406 48015855 - PTPRJ-AS1 antisense 1 1 3 4 8 8 6 0 0 ENSG00000254880 chr11 125158461 125164609 - PKNOX2-AS1 lincRNA 103695364 0 0 0 0 0 0 0 0 0 ENSG00000254883 chr11 67744322 67744645 + AP003385.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254884 chr11 9311284 9311689 - PRR13P2 processed_pseudogene 1 0 0 0 1 0 0 0 0 ENSG00000254885 chr11 79191558 79193160 + AP001547.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254887 chr19 42132555 42137099 + AC010247.1 processed_transcript 100505622 1 1 3 0 1 4 2 0 0 ENSG00000254888 chr11 90074839 90075096 - AP000827.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254889 chr8 7696830 7697093 - AC084121.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254890 chr11 109486968 109487424 - AP003049.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254891 chr11 55388529 55389472 + OR4A9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254892 chr11 119403963 119404227 - AP003396.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254893 chr5 76173629 76174183 - AC113404.3 translated_processed_pseudogene 11 18 15 11 14 23 6 8 9 ENSG00000254894 chr11 20119684 20120632 - NAV2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254895 chr11 103402013 103402586 - MTCO3P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254896 chr11 133360029 133366080 - OPCML-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000254897 chr11 85452282 85453698 - AP003035.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254898 chr8 38335981 38337551 + AC087362.1 antisense 103 96 121 23 62 66 37 53 65 ENSG00000254900 chr11 8679089 8680913 + AC091053.2 antisense 1 0 0 1 2 3 0 0 0 ENSG00000254901 chr19 19176903 19192591 - BORCS8 protein_coding 729991 GO:0099078, GO:0005765, BORC complex, lysosomal membrane, GO:0005515, protein binding, GO:0007507, heart development, 294 325 314 262 410 288 307 266 231 ENSG00000254902 chr11 70187788 70188509 - ANO1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254903 chr11 56381635 56382589 + OR8L1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254905 chr11 126292922 126294254 - AP001318.1 antisense 33 22 45 7 21 15 15 23 25 ENSG00000254906 chr11 20670425 20671297 - AC090707.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254907 chr11 43328748 43359296 - AC087276.2 antisense 28 23 38 29 17 35 47 20 21 ENSG00000254909 chr11 119005727 119005934 - AP003392.2 processed_pseudogene 3 8 10 7 14 9 11 4 7 ENSG00000254910 chr11 310139 311141 - AC136475.2 antisense 25 28 28 5 27 22 12 15 9 ENSG00000254911 chr11 93721513 93721865 + SCARNA9 antisense 619383 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 1 0 0 3 ENSG00000254912 chr15 32494003 32500346 - AC135983.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254913 chr1 149006309 149009527 - AC239802.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000254914 chr11 42939775 42939998 + AC109810.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254915 chr11 75942129 75942435 - AP003168.1 processed_pseudogene 0 1 1 0 3 4 1 1 0 ENSG00000254916 chr11 90051837 90053736 - AP004607.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254917 chr8 12696307 12697273 - OR7E15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254919 chr11 35915051 35918739 - AC090692.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254920 chr11 48893256 48898703 + AC027369.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254921 chr11 8035446 8039718 - AC116456.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254923 chr8 12128107 12129298 - AC130366.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254924 chr11 71506061 71506380 - AP000867.2 processed_pseudogene 0 0 0 0 3 0 0 0 1 ENSG00000254925 chr11 48464053 48464977 - OR4C9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254926 chr11 58748999 58761053 - AP000445.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254927 chr11 13826843 13879499 - AC027779.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254928 chr11 74455348 74456825 + AP001372.3 antisense 696 420 984 57 135 133 56 148 128 ENSG00000254929 chr10 47517816 47553514 - AL591684.2 processed_transcript 0 0 1 0 0 0 0 0 0 ENSG00000254930 chr11 13844862 13870616 - LINC02545 lincRNA 105376561 0 0 0 0 0 0 0 0 0 ENSG00000254931 chr11 103402588 103403422 - MTATP6P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254932 chr11 125258626 125266798 - AP001007.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254933 chr11 76190725 76195071 + AP000785.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000254934 chr11 27617626 27634627 - LINC00678 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254935 chr11 122618851 122619274 + AP002469.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254936 chr8 11123381 11126064 - AF131215.4 sense_intronic 0 0 0 2 4 0 2 0 2 ENSG00000254937 chr11 124538500 124539334 - AP000916.1 unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000254938 chr11 126920188 126940659 - AP002833.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254939 chr11 98565074 98566827 - AP003038.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254940 chr11 49920312 49921414 - OR4A19P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254941 chr11 124807822 124808269 - AP000866.4 processed_pseudogene 0 0 0 0 0 0 4 1 0 ENSG00000254942 chr1 109539906 109543837 - AL355310.3 antisense 2 5 1 0 6 6 3 1 3 ENSG00000254943 chr11 124891304 124892126 + AP003501.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254944 chr11 122960327 122961086 + ATP5PBP5 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000254946 chr11 15552855 15591098 + AC073172.2 lincRNA 105376569 0 3 3 1 3 0 0 3 0 ENSG00000254947 chr11 56142516 56143387 - OR8K4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254948 chr8 11919900 11920809 - OR7E158P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254949 chr11 111864254 111864460 + GNG5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254951 chr11 7754393 7905955 - AC044810.2 sense_overlapping 283299 0 0 0 0 0 0 0 0 0 ENSG00000254952 chr11 60159687 60160822 - AP001257.1 lincRNA 2 1 1 6 6 2 1 2 0 ENSG00000254953 chr11 56736316 56736462 - AP001803.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254954 chr8 60141821 60142142 + SLC2A13P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254957 chr11 11135482 11137658 + AC111188.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254959 chr7 30752137 30892081 + INMT-MINDY4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254960 chr11 126940746 126945090 + KIRREL3-AS2 antisense 100874251 0 0 0 0 0 0 0 0 0 ENSG00000254961 chr11 91949731 91950034 - TUBB4BP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254963 chr11 75264289 75265170 + AP001972.2 antisense 52 53 72 42 89 54 68 67 52 ENSG00000254964 chr11 62606161 62606405 + AP001458.1 antisense 28 22 22 45 57 34 31 30 18 ENSG00000254965 chr11 83111060 83111442 - C1DP5 processed_pseudogene 0 0 0 1 0 0 0 0 4 ENSG00000254966 chr11 18706537 18740568 + AC103974.1 antisense 0 0 0 5 0 0 0 0 1 ENSG00000254968 chr11 112393118 112621729 + AP003063.1 lincRNA 101928823 0 0 0 0 0 0 0 0 0 ENSG00000254971 chr11 89753982 89754953 - AP003122.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254972 chr11 71701268 71705404 - AP003498.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000254973 chr8 143758153 143771822 - AC105219.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254974 chr11 74485580 74486051 - AP001372.4 processed_pseudogene 0 0 0 0 0 0 2 1 0 ENSG00000254975 chr11 76675079 76703195 + AP001189.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254976 chr11 124324871 124325789 - OR8B7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254978 chr11 71800541 71804640 - ALG1L9P transcribed_unprocessed_pseudogene 0 0 4 5 0 0 0 3 0 ENSG00000254979 chr11 57387365 57424059 - AP000781.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000254980 chr11 111514043 111526755 - AP002008.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000254983 chr11 12303533 12308216 + AC025300.1 sense_intronic 0 0 0 2 1 0 0 1 0 ENSG00000254984 chr11 66771246 66771667 - FTLP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254985 chr11 77717712 77718411 - RSF1-IT2 sense_intronic 4 9 1 2 10 5 1 3 5 ENSG00000254986 chr11 66480013 66509657 + DPP3 protein_coding This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012]. 10072 GO:0070062, GO:0005829, GO:0005737, extracellular exosome, cytosol, cytoplasm, GO:0070006, GO:0008270, GO:0008239, GO:0008239, GO:0005515, metalloaminopeptidase activity, zinc ion binding, dipeptidyl-peptidase activity, dipeptidyl-peptidase activity, protein binding, GO:0006508, proteolysis, 14 7 45 33 24 62 37 19 42 ENSG00000254987 chr11 103675994 103895271 - AP002989.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254988 chr11 76955417 76978619 - AP002498.1 antisense 2 6 2 0 0 1 2 1 0 ENSG00000254989 chr11 134671426 134672024 - AP001999.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254990 chr11 111768668 111778350 - AP001781.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000254991 chr11 12066929 12073014 + AC124276.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000254992 chr11 118322789 118323083 - AP001582.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254993 chr11 49117010 49124570 - TRIM77BP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000254995 chr20 58651434 58715410 + STX16-NPEPL1 protein_coding 124 162 152 135 180 155 124 140 148 ENSG00000254996 chr5 140401908 140549569 + ANKHD1-EIF4EBP3 protein_coding The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009]. 404734 43 45 50 126 91 118 118 68 84 ENSG00000254997 chr11 71548418 71549553 + KRTAP5-9 protein_coding 3846 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, GO:0008544, keratinization, epidermis development, 0 0 0 0 0 0 0 0 0 ENSG00000254999 chr3 10115592 10127190 + BRK1 protein_coding 55845 GO:0070062, GO:0031209, GO:0031209, GO:0030027, GO:0005856, GO:0005829, extracellular exosome, SCAR complex, SCAR complex, lamellipodium, cytoskeleton, cytosol, GO:0044877, GO:0042802, GO:0031267, GO:0005515, protein-containing complex binding, identical protein binding, small GTPase binding, protein binding, GO:2000601, GO:0048870, GO:0048010, GO:0038096, GO:0031334, GO:0016601, GO:0010592, GO:0008284, GO:0008064, GO:0007015, GO:0001701, positive regulation of Arp2/3 complex-mediated actin nucleation, cell motility, vascular endothelial growth factor receptor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of protein-containing complex assembly, Rac protein signal transduction, positive regulation of lamellipodium assembly, positive regulation of cell population proliferation, regulation of actin polymerization or depolymerization, actin filament organization, in utero embryonic development, 543 420 560 311 468 380 315 442 345 ENSG00000255000 chr8 145047860 145048889 + AC139103.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255001 chr11 50290749 50290933 + AC109635.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255002 chr14 65212893 65222347 - LINC02324 lincRNA 100128233 0 0 0 0 0 0 0 0 0 ENSG00000255003 chr11 83328926 83329246 + CYCSP28 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255004 chr11 35281813 35286009 + AL133330.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255005 chr11 85916502 85923682 - AP003128.1 antisense 0 1 2 0 0 0 2 0 2 ENSG00000255006 chr11 120619934 120620267 - ELOCP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255007 chr11 46256355 46274547 - LINC02489 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255008 chr11 59561146 59566074 - AP000442.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255009 chr11 90085950 90087131 + UBTFL1 protein_coding UBTFL1 is a preimplantation-specific gene and is involved in early development, implantation, and embryonic stem (ES) cell derivation (summary by Yamada et al., 2010 [PubMed 19915186]).[supplied by OMIM, Jan 2011]. 642623 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0005515, GO:0003677, protein binding, DNA binding, GO:0010468, GO:0007566, GO:0001832, regulation of gene expression, embryo implantation, blastocyst growth, 0 0 0 0 0 0 0 0 0 ENSG00000255010 chr11 83106580 83106961 - AP001767.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000255011 chr11 90071136 90073055 + AP004607.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255012 chr11 56609236 56614874 - OR5M1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390168 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000255014 chr11 80653429 80653988 - ARL6IP1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255015 chr11 122294938 122301763 - AP000755.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255016 chr8 12025244 12025598 - AC107918.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255018 chr11 13152200 13152348 + AC022878.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255019 chr11 55786964 55787905 + OR5D15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255020 chr8 11345748 11347502 - AF131216.3 antisense 100129129 0 0 0 0 0 0 0 0 0 ENSG00000255021 chr3 14272373 14303845 - AC093496.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255022 chr11 87816224 87816524 + AP000676.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255025 chr8 7238286 7238631 - AF228730.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255026 chr11 287305 288987 + AC136475.3 antisense 387 643 547 280 613 411 349 495 390 ENSG00000255027 chr11 125903247 125938916 - AP000842.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255028 chr11 109355085 109583907 - AP003049.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255029 chr11 29519076 29552639 + AC110058.1 lincRNA 0 0 2 0 0 2 0 0 0 ENSG00000255030 chr11 124357560 124358469 - OR8B5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255031 chr11 68050740 68053762 + AP002807.1 antisense 259 305 546 297 498 461 412 341 492 ENSG00000255032 chr11 44719392 44736692 - AC104241.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255033 chr8 111380603 111380868 + SERPINA15P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255035 chr11 17435672 17436181 - SDHCP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255036 chr9 97238497 97377287 + STRA6LP processed_transcript This locus represents a set of read-through transcripts spanning an upstream pseudogene (GeneID:100499484) extending into a downstream protein-coding locus (GeneID:100499483). All of the read-through transcripts are candidates for nonsense-mediated decay (NMD), so they are not thought to express a protein. [provided by RefSeq, Aug 2010]. 57653 0 0 0 1 0 0 0 0 0 ENSG00000255037 chr16 14766402 14770075 - AC136443.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255038 chr11 66067277 66069619 - AP006287.2 antisense 6 6 9 6 18 17 11 8 1 ENSG00000255039 chr11 97222644 97259987 - LINC02553 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255040 chr11 14673606 14674555 - MORF4L1P3 processed_pseudogene 7 15 6 0 7 12 4 8 11 ENSG00000255041 chr11 45387215 45513802 - AC103855.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255042 chr11 50279828 50298452 - AC109635.4 transcribed_unprocessed_pseudogene 441601 0 10 0 0 0 0 0 0 0 ENSG00000255043 chr11 19502672 19507229 - NAV2-AS5 antisense 100874012 0 0 0 0 0 0 0 0 0 ENSG00000255045 chr11 124744634 124746337 - AP000866.5 antisense 6 4 7 9 8 11 3 2 3 ENSG00000255046 chr8 11797928 11802568 - AC069185.1 lincRNA 0 3 0 0 3 0 0 1 4 ENSG00000255047 chr11 29668886 29669628 - HNRNPRP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255048 chr11 124404234 124405102 - OR8X1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255050 chr8 143573490 143577397 + AC067930.5 antisense 32 14 56 16 15 31 15 3 25 ENSG00000255051 chr11 83132056 83134737 + BCAS2P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000255052 chr8 12115782 12177550 + FAM66D antisense 112268389 0 0 0 0 0 0 0 1 0 ENSG00000255053 chr11 48627546 48628493 + OR4A44P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255054 chr1 25811470 25823744 + AL020996.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255055 chr11 89908540 89909047 + MTND1P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255057 chr11 130008586 130009765 + AP003041.1 processed_pseudogene 0 0 2 2 3 6 0 1 3 ENSG00000255058 chr11 65160194 65160382 - PDCL2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255059 chr11 100666459 100666962 + PPIAP43 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255060 chr11 36425447 36426122 - AC009656.1 antisense 3 1 6 0 0 0 0 0 0 ENSG00000255062 chr11 126294298 126304318 - AP001318.2 antisense 38 33 37 13 31 14 29 30 29 ENSG00000255063 chr11 82805354 82806509 + AP001646.2 processed_pseudogene 0 0 0 0 0 0 0 1 4 ENSG00000255065 chr11 106310045 106311791 + AP002001.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255067 chr11 12848795 12849433 + AC013549.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255070 chr11 91115961 91116555 + OSBPL9P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255071 chr11 18231423 18248635 - SAA2-SAA4 protein_coding This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]. 100528017 0 0 0 0 0 0 0 0 0 ENSG00000255072 chr4 88521573 88521789 - PIGY protein_coding The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]. 84992 GO:0016021, GO:0005886, GO:0005789, GO:0005789, GO:0000506, GO:0000506, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, endoplasmic reticulum membrane, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, GO:0017176, GO:0005515, phosphatidylinositol N-acetylglucosaminyltransferase activity, protein binding, GO:0016254, GO:0006506, GO:0006506, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000255073 chr11 58579172 58624639 + ZFP91-CNTF protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255074 chr11 14440787 14441677 + AC018523.1 processed_pseudogene 4 1 1 4 0 4 4 5 0 ENSG00000255075 chr11 13756027 13757560 + CENPUP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255076 chr8 14879057 14879819 - AC084838.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255077 chr11 55411526 55411717 + OR4X7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255078 chr11 54724847 54725816 + OR4A6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255079 chr11 44694863 44696301 - AC104241.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255081 chr11 75914201 75915213 + AP003168.2 sense_intronic 0 2 0 6 3 3 0 0 0 ENSG00000255082 chr11 88504576 88524054 + GRM5-AS1 antisense 100873989 0 0 0 0 0 0 0 0 0 ENSG00000255083 chr11 57018100 57019021 + OR5AK1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255084 chr11 78533176 78558565 + AP003110.1 antisense 101928896 0 0 0 0 0 0 0 0 0 ENSG00000255085 chr8 144700353 144708517 + AF186192.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255086 chr11 26045987 26047598 + AC024341.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255087 chr11 127021754 127172363 + AP001993.1 lincRNA 101929473 0 0 0 0 0 0 0 0 0 ENSG00000255088 chr11 13758111 13758345 - AC013828.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255089 chr11 321991 322426 + AC136475.4 antisense 10 4 5 3 9 4 11 4 7 ENSG00000255091 chr11 45651529 45652691 + AC087442.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255092 chr11 44606170 44608101 - AC010768.2 antisense 21 24 96 4 15 12 2 7 3 ENSG00000255093 chr11 111448450 111475397 + AP002008.2 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255094 chr11 27978669 28019575 - AC090159.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255095 chr17 3235703 3241614 + OR1D4 transcribed_unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 653166 GO:0005887, integral component of plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007606, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of chemical stimulus, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000255096 chr11 58348989 58349630 - OR5B10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255097 chr11 9242448 9245509 - AP006259.1 sense_intronic 1 6 7 3 0 3 3 1 7 ENSG00000255099 chr8 109777912 109782288 + AC023245.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255100 chr11 76782581 76783062 - AP003119.2 antisense 101928837 0 0 0 0 0 0 0 0 0 ENSG00000255101 chr8 42705583 42721946 - AC103843.1 antisense 0 0 0 1 0 3 0 0 0 ENSG00000255102 chr11 88061774 88098147 - AP005436.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255104 chr17 15699692 15744778 + AC005324.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255105 chr8 103559099 103559389 - AC007751.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255106 chr11 44539778 44540693 - AC010768.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255107 chr8 69859264 69860540 - AC079089.2 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000255108 chr11 823634 832883 - AP006621.1 antisense 413 685 687 546 812 733 597 557 606 ENSG00000255109 chr11 42183292 42253712 - AC090458.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255110 chr11 55279949 55280289 + AP005597.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255111 chr11 49892262 49893777 - AP006587.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255112 chr18 11851396 11854449 + CHMP1B protein_coding CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]. 57132 GO:0070062, GO:0031902, GO:0030496, GO:0030117, GO:0010008, GO:0005829, GO:0005771, GO:0005654, GO:0000815, GO:0000815, extracellular exosome, late endosome membrane, midbody, membrane coat, endosome membrane, cytosol, multivesicular body, nucleoplasm, ESCRT III complex, ESCRT III complex, GO:0042802, GO:0019904, GO:0005515, identical protein binding, protein domain specific binding, protein binding, GO:1904903, GO:1901673, GO:0061952, GO:0051301, GO:0045324, GO:0045184, GO:0039702, GO:0039702, GO:0036258, GO:0032509, GO:0015031, GO:0010824, GO:0007080, GO:0006997, ESCRT III complex disassembly, regulation of mitotic spindle assembly, midbody abscission, cell division, late endosome to vacuole transport, establishment of protein localization, viral budding via host ESCRT complex, viral budding via host ESCRT complex, multivesicular body assembly, endosome transport via multivesicular body sorting pathway, protein transport, regulation of centrosome duplication, mitotic metaphase plate congression, nucleus organization, 3470 3241 3115 1777 2893 2621 2381 3068 2522 ENSG00000255113 chr11 48492026 48492416 + OR4A48P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255114 chr11 119044188 119045493 + AP003392.3 antisense 13 13 45 44 25 39 35 22 31 ENSG00000255115 chr11 77914990 77915275 - AP002812.4 processed_pseudogene 0 1 0 0 0 4 0 0 0 ENSG00000255116 chr11 124273970 124274581 + SLC5A4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255117 chr11 29594918 29630664 + LINC02546 lincRNA 105376606 0 0 0 0 0 0 0 0 0 ENSG00000255118 chr11 62336911 62338090 - AP003306.2 antisense 6 5 7 3 0 1 5 0 0 ENSG00000255119 chr11 67605521 67606642 + AP003385.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255120 chr11 65789051 65790868 - OVOL1-AS1 antisense 101927828 0 0 0 1 0 0 0 0 0 ENSG00000255121 chr11 118994824 118998004 - AP003392.4 lincRNA 1 3 0 6 0 0 3 1 1 ENSG00000255122 chr8 12580287 12581063 + AC068587.2 processed_pseudogene 1 0 3 3 2 2 5 0 0 ENSG00000255123 chr11 11239759 11240280 + MTND5P21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255126 chr11 62391516 62393372 - AP003064.1 antisense 3 0 8 3 5 1 2 2 0 ENSG00000255127 chr11 92914603 92931322 + AP003171.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255128 chr8 7418991 7420546 + HSPD1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255129 chr11 113278437 113314437 - AP000880.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255130 chr8 67732587 67735665 + AC022874.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255131 chr11 58077348 58078603 - OR9L1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255132 chr11 41394595 41426504 + AC090138.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255133 chr11 33814877 33822095 - AC113192.2 lincRNA 0 0 1 0 2 0 0 0 4 ENSG00000255134 chr11 56335142 56336068 + OR8K2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255135 chr11 76441338 76444656 - AP002360.1 lincRNA 1 3 3 5 8 6 4 6 8 ENSG00000255136 chr11 75208054 75241173 - AP001972.3 lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000255138 chr11 18189000 18189621 + GLTPP1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000255139 chr11 59616429 59639861 + AP000442.2 antisense 108 116 167 191 171 188 217 118 111 ENSG00000255140 chr11 56116639 56117256 - OR5BN2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255141 chr11 3972881 3974237 - HNRNPA1P76 processed_pseudogene 3 0 0 2 6 6 0 4 4 ENSG00000255142 chr11 781645 782105 + AP006621.2 lincRNA 1 2 2 3 1 5 2 0 8 ENSG00000255143 chr11 70129297 70149623 + AP000879.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000255144 chr8 11895850 11896870 - AC025857.1 unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000255145 chr9 99886322 99906601 - STX17-AS1 antisense 0 0 1 2 0 0 1 4 0 ENSG00000255146 chr11 58044110 58060138 - AP004247.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255147 chr11 67749043 67756968 - AP003385.4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255148 chr1 149018671 149026269 - AC239802.2 antisense 0 0 0 0 0 2 0 0 0 ENSG00000255149 chr11 110876994 110877177 - AP002963.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255150 chr12 104303739 104305205 + EID3 protein_coding 493861 GO:0030915, GO:0030915, GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0000781, Smc5-Smc6 complex, Smc5-Smc6 complex, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, chromosome, telomeric region, GO:0005515, protein binding, GO:2001022, GO:0006310, GO:0006281, positive regulation of response to DNA damage stimulus, DNA recombination, DNA repair, 18 18 13 45 38 25 55 25 33 ENSG00000255151 chr11 59086307 59094786 + GLYATL1B protein_coding 100287520 GO:0005739, mitochondrion, GO:0047961, GO:0047946, GO:0016410, glycine N-acyltransferase activity, glutamine N-acyltransferase activity, N-acyltransferase activity, GO:0006541, glutamine metabolic process, 0 1 0 0 0 8 2 2 2 ENSG00000255152 chr6 31740020 31764851 + MSH5-SAPCD1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255153 chr11 1309769 1310707 + TOLLIP-AS1 antisense 255512 1 0 4 1 1 0 0 2 2 ENSG00000255154 chr3 58306262 58318574 + HTD2 protein_coding This gene encodes a protein that localizes to the mitochondria and can function as a 3-hydroxyacyl thioester dehydratase. This gene is located just downstream of the gene for ribonuclease P/MRP subunit p14 (RPP14) in a genomic context that is conserved among animals. The upstream RPP14 gene is thought to be co-transcribed with this gene, and bicistronic transcripts may include open reading frames for both proteins. [provided by RefSeq, May 2017]. 109703458 GO:0005759, GO:0005739, GO:0005730, mitochondrial matrix, mitochondrion, nucleolus, GO:0018812, 3-hydroxyacyl-CoA dehydratase activity, GO:0046949, GO:0006631, fatty-acyl-CoA biosynthetic process, fatty acid metabolic process, 2 1 3 7 13 5 9 6 0 ENSG00000255155 chr11 130544643 130544856 - AP004371.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255156 chr22 20475203 20475311 - RNY1P9 misc_RNA 2 0 0 0 0 0 0 0 0 ENSG00000255157 chr11 71856277 71863658 + DEFB130C transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255158 chr11 665910 678391 + AC131934.1 antisense 1 0 0 0 0 0 6 0 1 ENSG00000255159 chr11 8768778 8810231 + AC026894.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255160 chr11 19299883 19308358 + AC009652.1 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000255161 chr11 33787054 33787795 - AC113192.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255162 chr11 89785945 89787838 + AP004833.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255163 chr11 118208932 118209211 - HSPE1P18 processed_pseudogene 63 48 120 6 9 0 8 4 13 ENSG00000255164 chr8 144992914 144994837 + AF235103.1 antisense 4 2 8 5 4 6 7 2 3 ENSG00000255165 chr11 44071462 44072403 + AC134775.1 sense_intronic 0 4 0 0 0 0 1 1 0 ENSG00000255166 chr8 43247191 43247410 + AC022616.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255167 chr11 21260061 21262570 - AC090857.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255169 chr11 33804768 33805641 + AC113192.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255170 chr11 89764884 89765138 + AP003122.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255171 chr11 41714534 41857733 + LINC01499 lincRNA 102723644 0 0 0 0 0 0 0 0 0 ENSG00000255172 chr11 56619779 56620810 - OR5AM1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255173 chr11 65117157 65117458 + AP003068.3 antisense 3 1 10 6 15 0 3 3 3 ENSG00000255174 chr8 11999087 11999468 + AC107918.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255175 chr11 38618264 38646356 - AC022796.1 lincRNA 103312105 0 0 0 0 0 0 0 0 0 ENSG00000255176 chr11 118636620 118638097 + AP000941.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255177 chr11 1242261 1249676 - MUC5B-AS1 antisense 112577518 0 0 0 0 0 0 0 0 0 ENSG00000255178 chr11 80751200 80762826 - AP002759.1 lincRNA 101928944 0 0 0 0 0 0 0 0 0 ENSG00000255179 chr11 7222933 7230863 + AC027804.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255181 chr8 143706694 143708109 - CCDC166 protein_coding 100130274 0 0 0 0 0 0 0 0 0 ENSG00000255182 chr8 144495458 144505444 - AC084125.2 processed_transcript 25 56 80 24 49 68 40 51 52 ENSG00000255183 chr11 87718354 87719411 - AP000756.1 lincRNA 105369423 0 0 0 0 0 0 0 0 0 ENSG00000255184 chr11 90017611 90024511 - AP004607.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255185 chr16 70010751 70065945 - PDXDC2P transcribed_unprocessed_pseudogene 0 0 0 5 1 2 0 0 0 ENSG00000255186 chr11 36386521 36388250 + AC087277.2 sense_intronic 1 0 1 0 0 0 0 0 0 ENSG00000255187 chr11 91158083 91167294 + AP003386.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255188 chr11 129788064 129788190 - AP003327.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255189 chr11 58978787 58994120 + GLYATL1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000255190 chr11 49874945 49876638 + TRIM51DP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255191 chr11 69985876 70015815 + AP003555.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255192 chr15 35084193 35085110 - NANOGP8 protein_coding This gene represents a transcribed retrogene of the Nanog homeobox gene. The putative encoded protein may participate in reprogramming of cancer cells. In vitro studies using a recombinant protein have shown that the protein localizes to the nucleus and can promote cell proliferation, similar to the Nanog protein. [provided by RefSeq, Sep 2017]. 388112 GO:0005634, GO:0000785, nucleus, chromatin, GO:0003674, GO:0000981, GO:0000978, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902808, GO:0008284, GO:0006357, positive regulation of cell cycle G1/S phase transition, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000255193 chr11 23730588 23796970 + AC100768.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255196 chr11 55444435 55445338 + OR4A17P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255197 chr11 47383148 47409190 - AC090559.1 antisense 786 677 1074 297 363 388 387 404 426 ENSG00000255198 chr16 1964959 1965509 + SNHG9 lincRNA 26 15 16 37 58 36 34 56 62 ENSG00000255199 chr11 50100892 50102898 - GTF2IP11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255200 chr11 65174117 65176470 - PGAM1P8 transcribed_processed_pseudogene 1 0 3 2 0 0 2 0 0 ENSG00000255201 chr8 38421889 38426096 + AC087623.1 antisense 1 1 0 2 1 0 3 1 1 ENSG00000255202 chr11 33665220 33696701 - AL049629.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255203 chr11 86857059 86857947 - OR7E2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255204 chr11 55863932 55881243 + AC036111.2 unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000255205 chr11 97000274 97000711 - MED28P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255206 chr8 68082204 68095081 - AC011853.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255207 chr11 33450646 33450943 + AL133399.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255209 chr11 79604967 79612300 - AP001978.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255210 chr11 110049528 110050160 + AP001889.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255211 chr8 7967344 7968544 - AC130365.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255213 chr11 62330946 62331813 + NPM1P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255214 chr11 49871826 49874067 - AP006587.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255215 chr11 48486363 48486825 - OR4R1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255216 chr11 120008604 120012158 - AP001360.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255217 chr11 56165500 56165921 + OR5J7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255218 chr11 58317637 58318375 - OR5BC1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255219 chr11 122295190 122308019 + AP000755.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255220 chr11 130295641 130296946 + DDX18P5 processed_pseudogene 0 0 0 2 0 0 2 0 0 ENSG00000255221 chr11 105092469 105101431 - CARD17 protein_coding 440068 GO:0032991, GO:0032991, GO:0005737, protein-containing complex, protein-containing complex, cytoplasm, GO:0089720, GO:0089720, GO:0042802, GO:0005515, GO:0004869, caspase binding, caspase binding, identical protein binding, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0071222, GO:0042981, GO:0032691, GO:0010951, cellular response to lipopolysaccharide, regulation of apoptotic process, negative regulation of interleukin-1 beta production, negative regulation of endopeptidase activity, 19 32 77 22 10 47 25 23 52 ENSG00000255222 chr11 86294760 86295576 + SETP17 processed_pseudogene 1 0 3 8 2 3 3 1 3 ENSG00000255223 chr11 56542262 56543281 - OR5M11 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219487 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000255224 chr8 144078002 144079265 - AC109322.1 antisense 40 27 92 16 47 44 5 10 44 ENSG00000255225 chr11 124338783 124339662 - OR8B6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255226 chr11 45750823 45751871 - AC044839.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255227 chr11 29445487 29457393 + AC090124.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255229 chr11 129279 186136 + AC069287.3 antisense 0 2 1 0 2 1 0 1 0 ENSG00000255230 chr11 67965873 67966227 - AC004923.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255231 chr11 112208601 112208898 + MRPS36P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255232 chr11 3961277 3961538 + AC087441.2 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000255233 chr11 93240133 93241168 + AP003969.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255234 chr11 83286128 83423516 + AP000446.1 antisense 10 4 7 2 4 0 2 2 3 ENSG00000255235 chr11 89883927 89886213 - AP005435.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255236 chr11 68122053 68130518 + AP002992.1 antisense 0 0 0 2 1 0 2 0 0 ENSG00000255237 chr11 462930 463899 - AC138230.1 antisense 0 1 1 0 0 1 0 0 0 ENSG00000255238 chr19 55777553 55778900 + RFPL4AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255239 chr11 118688033 118690599 - TREHP1 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000255240 chr11 58933643 59058659 - AP001636.3 antisense 283194 0 0 1 0 0 0 0 4 0 ENSG00000255241 chr11 88098591 88115835 + AP005436.2 antisense 0 0 0 3 0 0 0 0 0 ENSG00000255243 chr11 26189123 26208347 + AC099687.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255244 chr11 18934985 18939721 + AC023078.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255245 chr11 117820163 117876667 - FXYD6-FXYD2 protein_coding This locus represents naturally occurring read-through transcription between the neighboring FXYD domain-containing ion transport regulator 6 (GeneID 53826) and sodium/potassium-transporting ATPase subunit gamma (GeneID 486) genes on chromosome 11. One read-through transcript produces a fusion protein that shares sequence identity with each individual gene product, while another read-through transcript encodes a protein that has a distinct C-terminus and only shares sequence identity with the upstream locus (GeneID 53826). [provided by RefSeq, Aug 2011]. 100533181 0 0 0 0 0 0 0 0 0 ENSG00000255246 chr11 82603743 82643419 - AP000793.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255247 chr11 119709920 119713925 + AP003390.2 lincRNA 1 0 1 0 0 0 0 0 0 ENSG00000255248 chr11 122028327 122556721 - MIR100HG processed_transcript This gene produces long non-coding RNAs that act as regulators of cell proliferation. Alternative promoter usage and splicing results in multiple transcript variants. Some transcript variants may promote growth, while others may act to negatively regulate cell division. [provided by RefSeq, May 2016]. 399959 0 0 0 0 0 0 0 0 0 ENSG00000255250 chr11 86727355 86765265 + AP003059.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255251 chr8 7539628 7542450 + PRR23D1 protein_coding 100131608 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000255252 chr11 32097143 32105091 - AL078612.1 antisense 0 2 1 2 0 1 2 1 0 ENSG00000255253 chr8 12638428 12638602 + AC068587.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255254 chr11 18106583 18106841 + HIGD1AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255255 chr11 75911204 75911628 - PPP1R1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000255256 chr11 35972428 35989007 + AL136146.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255258 chr11 133783671 133810376 - AP001979.2 lincRNA 646522 0 0 0 0 0 0 0 0 0 ENSG00000255259 chr11 129295286 129296481 - ZNF123P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255260 chr11 11243188 11243715 - KC877392.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255261 chr11 71620020 71621032 + OR7E4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255262 chr11 130032866 130033220 - ELOBP2 processed_pseudogene 0 0 0 8 8 4 1 10 7 ENSG00000255265 chr11 58796237 58796854 - TMA16P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255266 chr11 57870322 57870571 - AP003484.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255267 chr11 45371397 45388508 + AC018716.2 lincRNA 399886 0 0 0 0 0 0 0 0 0 ENSG00000255268 chr11 49824839 49826724 - AC130364.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255269 chr11 46213824 46220438 - AC024475.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255270 chr11 19380484 19385014 + NAV2-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255271 chr11 34533014 34557924 - AL137224.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255272 chr11 33776188 33779495 + AC113192.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255273 chr8 7082971 7083328 + AF238378.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255274 chr11 118003634 118088299 - SMIM35 protein_coding 16 20 56 17 17 71 26 27 46 ENSG00000255275 chr1 18849273 18921121 - AL080251.1 protein_coding 0 0 0 0 1 0 0 0 0 ENSG00000255276 chr11 4137116 4138257 - RRM1-AS1 antisense 10 2 6 14 0 20 20 2 13 ENSG00000255277 chr16 14820792 14824702 - ABCC6P2 transcribed_unprocessed_pseudogene 730013 0 0 3 0 0 0 0 0 0 ENSG00000255279 chr11 41855920 41875997 + AC023442.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255280 chr11 75642600 75642889 + AP001922.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255281 chr11 29391525 29393844 + AC090124.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255282 chr11 102746968 102836766 + WTAPP1 transcribed_processed_pseudogene 100288077 0 0 0 0 0 0 0 4 0 ENSG00000255283 chr11 55279447 55284749 - AP005597.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255284 chr11 777578 784297 + AP006621.3 lincRNA 171391 3 4 8 9 13 19 4 4 6 ENSG00000255285 chr11 89789412 89789733 - AP004833.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255286 chr11 111945639 111946892 - AP000907.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000255287 chr11 92937441 92937666 + SNRPGP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255288 chr11 30167163 30167306 + AL358944.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255289 chr8 60660820 60664530 + AC068389.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255291 chr11 20574186 20575042 + HMGB1P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255292 chr11 112086903 112193805 + AP002884.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255293 chr11 23403805 23406103 + WIZP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255294 chr11 55475943 55478512 + OR4A50P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255295 chr11 89498748 89499198 - AP002404.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255296 chr11 71938671 71939544 - AP002490.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255297 chr11 48589760 48590687 + OR4A41P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255298 chr11 124256376 124266218 + OR8G5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219865 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000255299 chr11 58497888 58505758 - AP003557.1 lincRNA 3 0 2 2 2 10 1 1 0 ENSG00000255300 chr11 41993385 42163851 - AC079917.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255301 chr11 57476493 57477534 - AP002893.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255302 chr15 48877886 48880183 + EID1 protein_coding 23741 GO:0036464, GO:0005654, GO:0005654, GO:0005634, cytoplasmic ribonucleoprotein granule, nucleoplasm, nucleoplasm, nucleus, GO:0035035, GO:0035034, GO:0005515, GO:0003714, GO:0003714, histone acetyltransferase binding, histone acetyltransferase regulator activity, protein binding, transcription corepressor activity, transcription corepressor activity, GO:0045892, GO:0045892, GO:0045595, GO:0035065, GO:0030154, GO:0007049, GO:0000122, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, regulation of cell differentiation, regulation of histone acetylation, cell differentiation, cell cycle, negative regulation of transcription by RNA polymerase II, 164 203 246 203 140 288 189 132 196 ENSG00000255303 chr11 57861948 57873588 - OR5BA1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255304 chr11 48496348 48497280 + OR4A46P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255305 chr11 89978540 89980661 + AP004607.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255306 chr11 68024809 68030461 - AC004923.4 antisense 11 8 9 3 24 9 0 10 7 ENSG00000255307 chr11 6169330 6170408 - OR52B2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 255725 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 2 0 0 0 ENSG00000255308 chr11 19196775 19281426 + AC009652.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255309 chr11 11759101 11759433 - AC131935.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255310 chr8 11107788 11109726 - AF131215.5 sense_intronic 2 13 20 17 4 29 5 14 27 ENSG00000255311 chr11 83643602 83725390 + AP002370.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255312 chr11 54635037 54635955 - OR4C7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255313 chr8 124936524 124943765 - AC100858.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255314 chr11 46123031 46177106 + AC024475.4 lincRNA 101928894 0 2 0 0 1 7 1 0 0 ENSG00000255315 chr11 124531625 124531910 + OR8A3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255316 chr11 81555910 81556425 - MTND6P25 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255317 chr11 126992452 126995458 + AP002833.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255319 chr11 71711740 71781183 + ENPP7P8 transcribed_unprocessed_pseudogene 3 3 1 0 0 0 0 0 5 ENSG00000255320 chr11 66244840 66246239 - AP000759.1 antisense 48 56 63 46 59 74 48 51 47 ENSG00000255321 chr8 60551957 60553036 - AC068389.3 antisense 1 3 0 1 0 9 1 2 4 ENSG00000255323 chr11 22445688 22492019 - LINC01495 lincRNA 102723378 0 0 0 0 0 0 0 0 0 ENSG00000255325 chr8 122485515 122489815 - AC108136.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255326 chr11 75583196 75594665 + AP001922.5 antisense 105369391 0 0 0 0 0 0 0 0 0 ENSG00000255327 chr11 134950708 134951568 + AP003062.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255328 chr11 327171 330122 + AC136475.5 lincRNA 42 85 17 13 68 20 18 57 13 ENSG00000255329 chr11 70278921 70279297 - H2AFZP4 processed_pseudogene 2 2 2 0 9 0 2 0 0 ENSG00000255330 chr6 127438406 127519001 - AL096711.2 protein_coding 0 0 0 0 0 0 0 0 1 ENSG00000255331 chr11 60077350 60078401 + AP000790.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255332 chr11 91794362 91812294 + AP003028.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255333 chr11 58354004 58354499 - AP000435.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255334 chr11 112015307 112016124 + AP000907.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255335 chr11 17695267 17696940 - AC124301.2 antisense 102723330 0 0 0 0 0 0 0 0 0 ENSG00000255336 chr11 105246880 105247060 - AP003181.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255337 chr11 102452919 102462008 + AP001830.1 antisense 101928424 18 6 14 1 2 3 0 3 0 ENSG00000255338 chr11 49110756 49111220 + AC118273.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255339 chr10 100505628 100529881 - AL133352.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255340 chr11 43378882 43385671 - AC087276.3 antisense 21 23 23 9 28 14 7 19 22 ENSG00000255341 chr11 124601584 124602238 + OR8Q1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255342 chr11 123135923 123136376 - AP000926.1 processed_pseudogene 1 0 0 0 0 2 1 0 0 ENSG00000255343 chr8 143833270 143834063 - AC234917.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000255344 chr11 134714542 134715922 + AP001999.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255345 chr11 79092848 79098003 + AP002957.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255346 chr15 68930525 69062743 + NOX5 protein_coding This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. 79400 GO:0016021, GO:0005886, GO:0005789, integral component of membrane, plasma membrane, endoplasmic reticulum membrane, GO:0050661, GO:0050660, GO:0020037, GO:0016175, GO:0015252, GO:0005509, GO:0000293, NADP binding, flavin adenine dinucleotide binding, heme binding, superoxide-generating NAD(P)H oxidase activity, proton channel activity, calcium ion binding, ferric-chelate reductase activity, GO:1902600, GO:0061640, GO:0055114, GO:0055114, GO:0043012, GO:0042554, GO:0034599, GO:0033215, GO:0006915, GO:0001935, GO:0001816, GO:0001525, proton transmembrane transport, cytoskeleton-dependent cytokinesis, oxidation-reduction process, oxidation-reduction process, regulation of fusion of sperm to egg plasma membrane, superoxide anion generation, cellular response to oxidative stress, reductive iron assimilation, apoptotic process, endothelial cell proliferation, cytokine production, angiogenesis, 0 0 1 0 0 0 0 0 0 ENSG00000255347 chr11 40083710 40084517 - AC021820.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255348 chr11 134178824 134186166 + AP001775.2 antisense 0 1 0 1 0 0 0 0 1 ENSG00000255349 chr11 54692450 54693359 + OR4A7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255350 chr11 103404309 103405834 - MTCO1P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255351 chr11 11352426 11353307 + AC023946.1 antisense 33 35 37 41 22 25 29 20 16 ENSG00000255352 chr11 130789231 130791025 - PPP1R10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255353 chr11 107176286 107177530 + AP003057.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000255355 chr11 59669312 59676041 + AP000640.2 processed_transcript 1 5 5 45 53 100 65 32 82 ENSG00000255356 chr12 7896608 7896956 - AC007536.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255357 chr11 22492112 22502846 + AC055878.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255358 chr11 130285023 130285833 - AC019227.1 processed_pseudogene 1 1 0 0 4 0 5 0 0 ENSG00000255359 chr11 22846931 22860426 - CCDC179 protein_coding 100500938 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000255360 chr11 89955146 89957165 - AP004607.8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255361 chr8 42725547 42726228 - AC103843.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255362 chr11 76210956 76216025 - AP000785.2 lincRNA 0 0 0 0 4 0 0 1 0 ENSG00000255363 chr11 76607853 76630427 - AP001189.5 lincRNA 1 3 0 0 6 1 4 2 5 ENSG00000255364 chr8 122414332 122428551 - SMILR lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255365 chr8 14690382 14690619 + AC040926.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255366 chr8 47190772 47193262 + AC120036.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255367 chr11 3481520 3581211 - AC127526.2 processed_transcript 101927708 0 0 0 0 0 0 0 0 0 ENSG00000255368 chr11 25140533 25141023 - AC087373.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255369 chr11 128880325 128880668 - AP000920.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255370 chr11 31280672 31280987 - CYCSP25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255371 chr11 132859245 132860077 - OPCML-IT2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255372 chr11 22261209 22262256 - AC107886.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255374 chr12 11091287 11092313 - TAS2R43 protein_coding TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]. 259289 GO:0060170, GO:0031514, GO:0016021, GO:0016021, GO:0005886, ciliary membrane, motile cilium, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0008527, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000255375 chr11 32132699 32143719 + AL078612.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000255376 chr11 96642671 96643225 - AP003066.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255377 chr11 119444991 119445519 - DUXAP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255378 chr8 7778591 7781413 - PRR23D2 protein_coding 100133251 0 0 0 0 0 0 0 0 0 ENSG00000255379 chr11 108822333 108822650 - CYCSP29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255380 chr11 98130239 98131198 - AP001317.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255381 chr11 59142121 59142610 - AP001258.1 processed_pseudogene 0 0 0 1 0 1 0 0 3 ENSG00000255382 chr11 82791662 82817146 + AP001646.3 lincRNA 105369413 1 0 0 0 0 0 0 0 0 ENSG00000255384 chr11 118433121 118435206 - AP001267.2 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000255385 chr11 89700764 89701325 + UBTFL10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255386 chr11 59332757 59334086 - OR5BR1P unprocessed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000255387 chr11 4210354 4212091 - AC015689.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255388 chr11 41518895 41714448 - AC021006.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255389 chr6 111599875 111602295 + Z97989.1 antisense 14 10 3 14 12 11 18 14 5 ENSG00000255390 chr11 6621451 6622322 + AC091564.4 antisense 0 4 2 2 0 3 0 3 0 ENSG00000255391 chr11 87480736 87481297 - AP003497.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255393 chr11 59978020 60031077 + OOSP4B protein_coding 107987155 GO:0005576, extracellular region, 1 0 0 0 0 0 0 0 0 ENSG00000255394 chr8 11761256 11763223 + C8orf49 lincRNA 606553 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000255395 chr11 75099172 75140148 - AP001972.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255396 chr11 84997226 84997768 - AP000857.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255397 chr8 60937705 60939871 - AC022182.3 processed_pseudogene 4 4 15 5 2 7 10 2 5 ENSG00000255398 chr12 122714756 122716892 - HCAR3 protein_coding 8843 GO:0030054, GO:0005887, GO:0005886, cell junction, integral component of plasma membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 6722 9483 9840 22325 19405 30493 41510 34374 38690 ENSG00000255399 chr12 114408191 114412831 + TBX5-AS1 antisense 255480 0 0 0 0 0 0 0 0 0 ENSG00000255400 chr11 12086891 12089441 + AC124276.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255401 chr11 13488612 13489390 + AC021269.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255402 chr8 109973943 109974781 + AC027451.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255403 chr11 105706299 105707937 + AP000641.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255404 chr11 65795946 65797219 - AP001266.1 antisense 0 0 0 0 0 4 0 0 0 ENSG00000255406 chr11 134026900 134030167 + AP000911.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255408 chr5 140801028 141012344 + PCDHA3 protein_coding This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 56145 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007399, GO:0007156, GO:0007155, nervous system development, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000255409 chr11 77738680 77739568 - RSF1-IT1 sense_intronic 8 15 11 6 13 36 13 9 1 ENSG00000255410 chr11 6630603 6635208 + AC091564.5 antisense 1 0 0 0 0 4 0 0 0 ENSG00000255411 chr11 13784029 13848002 + LINC02548 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255413 chr8 13741809 13742781 + AC022880.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255415 chr11 71629045 71629421 + AP000867.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255416 chr11 55948120 55948924 - OR10AF1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255417 chr11 103403512 103404167 - MTCO2P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255418 chr11 23164900 23203161 + AC090092.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255420 chr11 8011278 8016489 - CASC23 antisense 103581031 0 0 0 0 0 0 0 0 0 ENSG00000255421 chr11 76137315 76137731 - AP002340.1 antisense 8 15 19 16 20 32 33 22 24 ENSG00000255422 chr11 118700427 118750263 + AP002954.1 antisense 105369519 78 129 129 48 51 40 34 54 25 ENSG00000255423 chr3 73061659 73063337 + EBLN2 protein_coding 55096 155 161 198 104 115 200 73 61 156 ENSG00000255424 chr11 19029697 19030438 - AC027026.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255425 chr11 124211707 124215828 + OR8G3P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255426 chr11 45733994 45735766 - AC044839.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255427 chr11 34570876 34573982 + AC087783.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255428 chr11 111414242 111418186 - AP002008.3 sense_intronic 100132078 0 0 0 0 0 0 0 0 0 ENSG00000255429 chr11 89546637 89589611 - AP003400.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255430 chr11 105122661 105123339 - CASP1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255431 chr11 58343737 58344664 - OR5B19P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255432 chr11 62649694 62665178 - AP001458.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255433 chr11 56848478 56878078 + AP001803.2 lincRNA 101927120 0 0 0 0 0 0 0 0 0 ENSG00000255434 chr11 75596144 75597270 - AP001922.6 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255435 chr11 118511911 118531094 - AP001267.3 antisense 13 9 22 12 3 28 30 7 19 ENSG00000255437 chr8 14022687 14023422 - AC023538.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000255438 chr20 47677901 47686297 + AL354813.1 antisense 450 559 704 132 309 241 173 278 217 ENSG00000255439 chr16 31083439 31094956 - AC135050.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255440 chr11 74409060 74416379 + AP001085.1 sense_intronic 0 0 2 0 0 0 0 0 0 ENSG00000255441 chr19 51415724 51417425 + AC008750.2 antisense 804 758 783 191 260 159 212 240 206 ENSG00000255442 chr11 50170156 50190441 + AC109635.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255443 chr11 35210343 35214985 - CD44-AS1 antisense 224 145 269 172 118 147 133 44 111 ENSG00000255444 chr11 74482250 74482542 + CYCSP27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255445 chr11 93152075 93152750 + AP003072.2 processed_pseudogene 7 18 12 10 15 8 7 5 14 ENSG00000255446 chr11 62421845 62426724 - AP003064.2 antisense 0 0 0 0 3 0 0 0 3 ENSG00000255447 chr11 45813219 45825258 + AC044839.4 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000255448 chr11 18000542 18022931 - AC055860.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000255449 chr11 77866412 77870091 - AP002812.5 antisense 2 2 5 1 9 3 7 7 4 ENSG00000255450 chr11 29275655 29276565 + AC110056.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255451 chr11 44468464 44470429 + AC010768.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255452 chr11 49092404 49092767 + AC084851.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255454 chr11 25630720 25631041 + AC100770.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255455 chr11 130866254 130870247 - AP003486.1 lincRNA 51 68 60 37 73 77 43 48 54 ENSG00000255456 chr8 144584040 144586488 + AC084125.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255457 chr8 13695574 13705506 + AC022880.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255458 chr4 39639140 39666644 + AC108471.2 lincRNA 0 1 0 4 3 3 1 3 0 ENSG00000255459 chr8 8086022 8086765 - AC105233.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255460 chr11 75228322 75228657 - ZDHHC20P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255461 chr11 56296541 56297471 - OR8I1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255462 chr11 11570084 11573782 + AC104031.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255463 chr11 9631008 9631359 - AC011979.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255464 chr8 200385 200562 - SEPT14P8 unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000255466 chr11 56393729 56394648 + OR5AL2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255467 chr11 108105074 108121684 - AP002433.1 antisense 22 20 8 28 17 26 24 11 7 ENSG00000255468 chr11 66347950 66364804 + AP001107.9 antisense 102724064 0 0 3 2 1 3 1 0 3 ENSG00000255469 chr11 102880492 102880846 + BOLA3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255470 chr11 18140186 18189495 - AC090099.4 lincRNA 0 0 0 0 0 2 0 0 0 ENSG00000255471 chr11 86892214 86925037 - AP001528.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255472 chr14 21032818 21033895 + AL161668.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255474 chr12 4700417 4720102 - GAU1 lincRNA 101929549 0 0 0 0 0 0 0 1 0 ENSG00000255475 chr11 125132847 125139587 - AP001007.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255476 chr11 9839143 9929263 + AC011092.2 antisense 101928008 8 1 8 2 7 22 7 7 0 ENSG00000255477 chr11 38498995 38500186 + AC021713.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255478 chr11 65367438 65375299 + AP000944.1 antisense 1 8 4 3 0 17 0 3 9 ENSG00000255479 chr11 76625462 76626834 - AP001189.6 lincRNA 0 2 0 0 1 0 0 0 0 ENSG00000255480 chr11 30425552 30429268 + AL353699.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255481 chr11 6045807 6046747 - OR56A7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255482 chr11 102467255 102498801 + AP001830.2 antisense 102723838 0 0 0 0 0 0 0 0 0 ENSG00000255483 chr11 107600379 107600868 - AP000889.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255484 chr11 112534220 112555802 - AP003063.2 lincRNA 387810 0 0 0 0 0 0 0 0 0 ENSG00000255485 chr11 56790206 56790965 - OR5G4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255486 chr11 89723482 89727253 - AP003122.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255487 chr8 38275888 38276680 + AC087362.2 antisense 45 32 33 29 47 29 30 32 53 ENSG00000255489 chr11 24701275 24701575 + AC115990.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255490 chr11 32085111 32085712 + EIF4A2P5 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000255491 chr8 124811226 124857516 - AC100858.3 lincRNA 105375743 0 0 0 0 0 0 0 0 0 ENSG00000255492 chr11 11856490 11856859 - AC104383.1 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000255493 chr11 55430478 55432370 + OR4A10P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255494 chr8 12794243 12818291 + LINC00681 lincRNA 101409254 0 0 0 0 0 0 0 0 0 ENSG00000255495 chr8 12194467 12196280 + AC145124.1 antisense 2 7 6 2 9 4 2 7 7 ENSG00000255496 chr11 27696312 27877648 - AC103796.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000255497 chr8 43313948 43314200 + AC022616.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255498 chr11 45905941 45906461 - AC068385.1 antisense 1 2 0 6 5 7 6 5 3 ENSG00000255499 chr11 55865709 55865820 + AC036111.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255500 chr11 50268161 50269273 + AC109635.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255501 chr11 105137721 105531697 - CARD18 protein_coding 59082 GO:0032991, GO:0032991, protein-containing complex, protein-containing complex, GO:0089720, GO:0089720, GO:0050700, GO:0005515, GO:0004869, caspase binding, caspase binding, CARD domain binding, protein binding, cysteine-type endopeptidase inhibitor activity, GO:0097340, GO:0042981, GO:0032691, GO:0032091, GO:0006954, inhibition of cysteine-type endopeptidase activity, regulation of apoptotic process, negative regulation of interleukin-1 beta production, negative regulation of protein binding, inflammatory response, 0 0 0 0 0 0 0 0 0 ENSG00000255502 chr11 97878781 97942762 - AP003730.2 lincRNA 105369454 0 0 0 0 0 0 0 0 0 ENSG00000255503 chr11 83072402 83097196 - AP001767.3 lincRNA 12 7 6 5 5 11 10 6 3 ENSG00000255504 chr11 101208905 101209450 + AP001533.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255505 chr11 26427051 26427412 + AC079064.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255506 chr11 92748732 92766867 - AP003718.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255507 chr11 75803431 75815406 - UVRAG-DT antisense 100506113 24 41 65 39 34 45 49 20 52 ENSG00000255508 chr11 62559603 62591531 - AP002990.1 protein_coding 6 4 0 15 4 9 3 3 0 ENSG00000255510 chr11 124460534 124461485 + OR8A2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255511 chr11 18870989 18873462 - AC023078.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255512 chr11 135061781 135075899 - AP005135.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255513 chr16 1963745 1964095 - AC005363.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255514 chr11 48227429 48228310 + OR4B2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255515 chr11 93609760 93610333 - AP003499.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255516 chr11 88050106 88062110 + AP005436.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255517 chr11 66473490 66480233 - AP002748.3 antisense 101928069 3 2 10 3 2 7 3 4 19 ENSG00000255519 chr11 45514187 45514451 + AC103855.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255520 chr11 47123104 47130801 - AC090589.2 antisense 0 2 0 0 0 0 2 0 1 ENSG00000255521 chr11 35132655 35138032 - AL356215.1 antisense 100507144 1 2 3 3 0 27 4 2 0 ENSG00000255522 chr11 3531420 3531608 + SNRPCP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255523 chr11 58917015 58928689 - AP001652.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255524 chr16 28637654 28658682 + NPIPB8 protein_coding 728734 GO:0005654, GO:0005654, nucleoplasm, nucleoplasm, 1 3 5 11 6 6 2 2 0 ENSG00000255525 chr11 31305685 31314548 + AL137804.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255526 chr14 24213955 24232352 - NEDD8-MDP1 protein_coding This locus represents naturally occurring read-through transcription between the neighboring NEDD8 (neural precursor cell expressed, developmentally down-regulated 8) and MDP1 (magnesium-dependent phosphatase 1) genes on chromosome 14. One of the read-through transcripts on this locus encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Jul 2016]. 100528064 0 0 0 0 0 0 0 0 0 ENSG00000255527 chr11 48907103 48908946 + AC027369.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255528 chr11 109002465 109037967 - AP003123.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255529 chr15 57706629 57782762 + POLR2M protein_coding This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]. 81488 GO:0043025, GO:0016591, GO:0016591, GO:0005665, GO:0005635, GO:0005635, GO:0005622, neuronal cell body, RNA polymerase II, holoenzyme, RNA polymerase II, holoenzyme, RNA polymerase II, core complex, nuclear envelope, nuclear envelope, intracellular anatomical structure, GO:0003899, DNA-directed 5'-3' RNA polymerase activity, GO:0051685, GO:0035556, GO:0032774, maintenance of ER location, intracellular signal transduction, RNA biosynthetic process, 22 17 45 35 25 66 18 27 38 ENSG00000255530 chr8 145005561 145005906 - AF235103.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255531 chr8 67849044 67849338 + NDUFS5P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255532 chr11 49305714 49379669 + AC118942.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255533 chr11 303856 304144 - AC136475.6 processed_pseudogene 0 1 1 0 1 4 0 0 0 ENSG00000255534 chr11 48526064 48526971 + OR4A43P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255535 chr11 130040365 130041071 + AP003041.2 processed_pseudogene 0 0 0 2 6 3 5 8 3 ENSG00000255536 chr11 18910436 18911396 - AC023078.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255537 chr11 125495214 125499528 + AP000708.1 bidirectional_promoter_lncRNA 403312 0 0 0 0 0 0 0 0 0 ENSG00000255538 chr11 59748811 59749574 + OR10V2P unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81343 13 15 28 4 25 31 8 21 25 ENSG00000255539 chr11 70324871 70327209 - AP002336.3 antisense 60 71 91 30 62 56 30 31 36 ENSG00000255540 chr11 89731017 89734782 + AP003122.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255541 chr11 83209399 83209634 + AP000873.5 processed_pseudogene 1 0 0 0 5 2 2 0 0 ENSG00000255542 chr11 35419057 35421002 + AC090625.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255543 chr11 55267408 55267636 + AP005597.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255544 chr8 12095176 12099536 - DEFB108D unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255545 chr11 134436473 134505661 + AP004608.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000255547 chr11 100336856 100337625 + RPA2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255548 chr11 103945548 103946546 + AP003043.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255549 chr8 12448013 12511278 - ENPP7P6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000255550 chr11 49854080 49859402 - AP006587.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255551 chr11 48880111 48885237 + AC027369.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255552 chr6 31711771 31714065 - LY6G6E protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255553 chr11 62077277 62082184 - AP003733.3 lincRNA 0 0 1 0 0 0 2 0 0 ENSG00000255554 chr11 67974286 67975243 - OR7E1P unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000255555 chr11 84936689 84955705 + AP000857.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255556 chr8 12378679 12380265 - AC087203.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255557 chr11 65745729 65771585 + AP001266.2 lincRNA 51 53 28 22 18 7 18 23 19 ENSG00000255558 chr11 13054615 13134839 - AC013762.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255559 chr8 145002811 145006046 + ZNF252P-AS1 antisense 286103 7 9 6 3 8 9 0 7 2 ENSG00000255560 chr11 54657120 54657716 - OR4R2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255561 chr11 111874056 111881243 - FDXACB1 protein_coding This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 91893 GO:0005737, cytoplasm, GO:0070042, GO:0005515, rRNA (uridine-N3-)-methyltransferase activity, protein binding, GO:0070475, rRNA base methylation, 2 3 2 5 0 7 1 0 1 ENSG00000255562 chr11 71603260 71608040 + UNC93B6 transcribed_processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000255563 chr11 41660030 41660221 + AC021006.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255565 chr12 15780068 15782120 + AC073651.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255566 chr12 64442510 64443330 - AC135279.1 processed_pseudogene 0 0 2 0 0 0 1 0 0 ENSG00000255568 chr21 39313935 39314962 + BRWD1-AS2 antisense 103091865 0 0 0 0 1 0 0 1 5 ENSG00000255569 chr14 21621838 21622567 + TRAV1-1 TR_V_gene 0 0 0 1 0 3 2 1 5 ENSG00000255571 chr15 89361579 89398487 + MIR9-3HG lincRNA 254559 5 7 9 3 7 27 8 10 9 ENSG00000255572 chr12 7166674 7189069 - AC018653.1 antisense 1 1 2 2 2 3 7 0 0 ENSG00000255575 chr12 120057035 120057180 + AC004812.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255580 chr11 115363629 115377931 + AP000462.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255581 chr12 8017201 8017860 - AC006511.2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000255582 chr14 21633836 21634940 - OR10G2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26534 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 1 2 1 0 0 0 0 7 ENSG00000255583 chr12 63682523 63724935 - AC084357.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255585 chr9 137776539 137789235 - AL590627.1 transcribed_processed_pseudogene 651337 44 87 50 45 75 31 28 34 40 ENSG00000255587 chr6 36697810 36733183 + RAB44 protein_coding 401258 GO:0035579, GO:0035577, GO:0005886, specific granule membrane, azurophil granule membrane, plasma membrane, GO:0005525, GO:0005509, GO:0003924, GTP binding, calcium ion binding, GTPase activity, GO:0043312, neutrophil degranulation, 73 171 292 8 23 19 12 14 9 ENSG00000255595 chr12 126191151 126434227 + AC007368.1 processed_transcript 101927531 0 0 0 0 0 0 0 0 0 ENSG00000255599 chr11 115628065 115629743 + AP000997.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255605 chr11 95698086 95700623 + AP000820.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000255606 chr11 69438365 69444743 - AP000439.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255608 chr12 4838955 4842675 + AC006063.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255618 chr12 118773032 118775137 - LINC02440 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255621 chr12 13000451 13040679 + AC023790.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255622 chr5 141155996 141159061 + PCDHB17P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255624 chr10 122879681 122898615 + AC073585.1 transcribed_processed_pseudogene 3 4 2 14 0 5 1 4 13 ENSG00000255627 chr12 22008348 22008880 + AC092862.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255628 chr12 34149839 34162238 + AC140847.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255629 chr12 64146388 64147857 - AC025576.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255633 chr6 61574328 61574402 + MTRNR2L9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255639 chr12 4649101 4774184 + AC005833.1 protein_coding 2 0 0 0 0 0 0 0 0 ENSG00000255641 chr12 10412312 10436001 - AC068775.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255642 chr12 63822021 63823895 + PABPC1P4 processed_pseudogene 4 5 2 14 2 2 7 2 5 ENSG00000255644 chr12 21759980 21766705 + AC010185.1 antisense 1 0 5 0 0 0 0 0 0 ENSG00000255647 chr5 90410000 90410669 + AC093510.1 processed_transcript 731157 0 0 0 0 0 0 0 0 0 ENSG00000255648 chr12 18714795 18737878 + AC087242.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255649 chr12 14530151 14533229 + AC008114.1 antisense 3 2 6 7 4 4 2 6 8 ENSG00000255650 chr12 109734166 109773508 - FAM222A-AS1 antisense 84983 0 0 0 0 0 0 0 0 0 ENSG00000255652 chr12 34191279 34218853 - AC140847.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255653 chr11 95011858 95012532 + AP002383.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255655 chr12 109445410 109447497 - AC007570.1 antisense 0 0 0 0 0 1 0 1 0 ENSG00000255660 chr12 15151923 15155283 + RERG-AS1 lincRNA 100873980 0 0 0 0 0 0 0 0 0 ENSG00000255663 chr11 114400682 114443932 + AP002373.1 protein_coding 1 0 1 3 2 1 0 0 0 ENSG00000255664 chr14 21649728 21650337 - ARL6IP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255666 chr11 94638045 94652884 + AP000943.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000255669 chr12 2761200 2775658 - ITFG2-AS1 transcribed_unitary_pseudogene 1 4 1 0 0 0 0 0 0 ENSG00000255670 chr12 12485353 12491581 + AC007619.1 lincRNA 1 4 1 5 4 3 8 2 0 ENSG00000255671 chr12 193036 194130 + AC007406.1 antisense 3 2 2 1 0 2 6 0 0 ENSG00000255672 chr11 72354516 72363555 + AP002892.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000255679 chr11 96447132 96506826 - JRKL-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255680 chr11 6618790 6619764 + AC091564.6 antisense 89 191 215 115 228 177 172 145 108 ENSG00000255686 chr12 117453012 117456986 + AC073864.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000255689 chr11 115582297 115600339 + AP003174.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255690 chr7 28953358 28958292 - TRIL protein_coding TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010]. 9865 GO:0046696, GO:0046696, GO:0031012, GO:0005615, lipopolysaccharide receptor complex, lipopolysaccharide receptor complex, extracellular matrix, extracellular space, GO:0001530, GO:0001530, lipopolysaccharide binding, lipopolysaccharide binding, GO:0045087, GO:0034142, GO:0034142, GO:0006954, GO:0002718, GO:0002718, innate immune response, toll-like receptor 4 signaling pathway, toll-like receptor 4 signaling pathway, inflammatory response, regulation of cytokine production involved in immune response, regulation of cytokine production involved in immune response, 0 0 0 0 0 0 0 0 0 ENSG00000255692 chr12 119699768 119701011 + AC002563.1 antisense 0 0 0 0 0 1 0 0 0 ENSG00000255693 chr12 64883394 64990607 + LINC02389 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000255700 chr12 65134688 65135273 + APOOP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255703 chr12 132899984 132900368 + AC127070.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255704 chr12 131596857 131597115 - AC140063.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255710 chr11 113820856 113821885 - AP003170.1 processed_pseudogene 2 1 0 1 0 2 2 1 2 ENSG00000255713 chr17 58166982 58171411 + OR4D2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 124538 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000255714 chr12 118645315 118648724 - LINC02460 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255717 chr11 62851988 62855914 - SNHG1 processed_transcript This locus represents a small nucleolar RNA host gene that produces multiple alternatively spliced long non-coding RNAs. This gene is upregulated in cancers and is thought to act as promoter of cell proliferation. This transcript negatively regulates tumor suppressor genes such as tumor protein p53. Expression of this locus may be a marker of tumor progression. [provided by RefSeq, Dec 2017]. 23642 GO:0005730, nucleolus, GO:0006396, RNA processing, 73 77 122 671 904 927 354 280 390 ENSG00000255723 chr4 87317170 87345210 - AC108516.2 processed_transcript 4 5 2 7 8 10 2 13 3 ENSG00000255725 chr12 25803298 25804526 + TDGP1 processed_pseudogene 4 1 1 0 4 4 0 3 0 ENSG00000255726 chr6 31222913 31223093 + AL662844.1 unprocessed_pseudogene 0 0 0 2 0 0 0 0 2 ENSG00000255727 chr12 15001833 15006683 + LINC01489 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000255730 chr19 41350853 41425001 + AC011462.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255733 chr12 67989445 68234686 + IFNG-AS1 antisense 100885789 3 0 13 26 3 29 8 1 10 ENSG00000255734 chr12 10111738 10112471 + HNRNPABP1 processed_pseudogene 0 2 1 0 0 0 0 0 0 ENSG00000255737 chr12 57726271 57728356 + AGAP2-AS1 antisense 100130776 252 319 391 131 253 302 195 174 241 ENSG00000255741 chr11 68941503 68942852 - AP000808.2 antisense 0 1 1 1 0 0 3 8 0 ENSG00000255745 chr12 24704565 24774213 + AC023796.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255746 chr12 253442 257299 - AC007406.2 sense_intronic 102723544 0 0 0 0 0 0 0 0 3 ENSG00000255749 chr12 14254912 14255226 + GNAI2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255750 chr12 26230819 26319720 - AC022509.1 antisense 3 3 6 4 0 2 1 2 0 ENSG00000255753 chr12 9314402 9316173 - AC009533.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255757 chr12 127876999 127877516 - AC087894.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255760 chr12 31877079 31887203 - LINC02422 lincRNA 7 3 8 11 8 3 6 9 2 ENSG00000255763 chr12 14237091 14237321 + MRPS18CP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255767 chr2 3531984 3547957 - AC108488.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255769 chr15 82472993 82513950 - GOLGA2P10 transcribed_unprocessed_pseudogene 0 0 0 0 1 0 8 1 0 ENSG00000255772 chr12 67929235 67970017 + LINC01479 lincRNA 101927922 0 0 0 0 0 0 0 0 0 ENSG00000255774 chr11 69475567 69481545 - AP000439.2 lincRNA 105379407 0 0 0 0 0 0 0 0 0 ENSG00000255775 chr12 6155035 6160719 - AC005845.1 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000255776 chr12 9036344 9037244 + VDAC2P2 processed_pseudogene 0 0 0 2 0 0 0 0 2 ENSG00000255780 chr12 64032412 64032665 + AC020611.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255786 chr11 73452020 73452344 + AP000763.1 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000255790 chr12 11399381 11486678 - AC078950.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000255794 chr12 97430884 97598415 + RMST processed_transcript This gene produces a long non-coding RNA that functions in neurogenesis by aiding in the association of Sox2 transcription factor to its target promoters. [provided by RefSeq, Dec 2017]. 196475 0 0 0 0 0 0 0 0 0 ENSG00000255801 chr12 8548361 8567613 - AC092746.1 lincRNA 65 116 113 46 177 103 35 143 127 ENSG00000255804 chr14 22630929 22644352 - OR6J1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 79549 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 1 0 0 0 0 0 0 0 ENSG00000255807 chr12 133033503 133033956 + PTP4A1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255808 chr11 72643237 72659407 + AP003065.1 antisense 3 4 4 6 22 30 10 13 15 ENSG00000255811 chr1 34761426 34788097 - AL121988.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255814 chr12 118818804 118833536 - LINC02439 lincRNA 105370016 0 0 0 0 0 0 0 0 0 ENSG00000255815 chr9 99305176 99306611 + KRT8P11 processed_pseudogene 1 1 0 0 1 0 2 1 0 ENSG00000255817 chr12 64108763 64120489 - AC025576.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255819 chr12 10372353 10410146 - KLRC4-KLRK1 protein_coding 0 2 10 3 1 16 12 0 7 ENSG00000255823 chr11 10507887 10509189 - MTRNR2L8 protein_coding 100463486 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0048019, receptor antagonist activity, GO:2000272, GO:1900118, negative regulation of signaling receptor activity, negative regulation of execution phase of apoptosis, 26 40 43 27 50 57 29 32 70 ENSG00000255825 chr12 590633 591269 + AC006205.1 antisense 0 3 1 0 2 0 1 1 2 ENSG00000255829 chr12 8664011 8669011 + AC092490.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255830 chr12 114548854 114549852 + AC069240.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255833 chr5 135444218 135452399 - TIFAB protein_coding TIFAB associates with TIFA (MIM 609028) and inhibits TIFA-mediated activation of NF-kappa-B (NFKB1; MIM 164011) (Matsumura et al., 2004 [PubMed 15047173]).[supplied by OMIM, Mar 2009]. 497189 GO:1905748, GO:1905747, GO:1901078, GO:0098583, GO:0097094, GO:0090103, GO:0090102, GO:0071626, GO:0050885, GO:0048839, GO:0048806, GO:0048634, GO:0042472, GO:0035112, GO:0031223, GO:0030432, GO:0021650, GO:0021559, GO:0007356, GO:0007249, hard palate morphogenesis, negative regulation of saliva secretion, negative regulation of relaxation of muscle, learned vocalization behavior, craniofacial suture morphogenesis, cochlea morphogenesis, cochlea development, mastication, neuromuscular process controlling balance, inner ear development, genitalia development, regulation of muscle organ development, inner ear morphogenesis, genitalia morphogenesis, auditory behavior, peristalsis, vestibulocochlear nerve formation, trigeminal nerve development, thorax and anterior abdomen determination, I-kappaB kinase/NF-kappaB signaling, 0 0 5 2 0 0 0 2 0 ENSG00000255835 chr1 225886696 225924278 - AL117348.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255836 chr12 7438780 7439990 - AC131206.1 processed_pseudogene 3 0 0 0 5 0 4 3 0 ENSG00000255837 chr12 10996495 10997875 - TAS2R20 protein_coding This gene encodes a member of the taste receptor two family of class C G-protein coupled receptors. Receptors of this family have a short extracellular N-terminus, seven transmembrane helices, three extracellular loops and three intracellular loops, and an intracellular C-terminus. Members of this family are expressed in a subset of taste receptor cells, where they function in bitter taste reception, as well as in non-gustatory cells including those of the brain, reproductive organs, respiratory system, and gastrointestinal system. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2016]. 259295 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0033038, GO:0004930, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000255838 chr12 128944274 128945203 - AC069262.1 unprocessed_pseudogene 11 20 8 40 21 25 29 10 10 ENSG00000255839 chr12 123707602 123708386 - AC117503.1 lincRNA 0 1 0 4 0 3 2 0 0 ENSG00000255843 chr11 72302139 72302965 + AP000593.3 antisense 1 2 1 1 4 0 3 0 7 ENSG00000255845 chr11 60813932 60821739 - AP000777.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255847 chr11 73963657 73970287 - AP003717.1 antisense 6 8 7 26 22 69 18 20 21 ENSG00000255850 chr12 63804739 63822156 - RXYLT1-AS1 antisense 104169670 1 1 4 9 0 7 9 4 4 ENSG00000255851 chr17 49017793 49018061 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000255853 chr12 126510910 126511711 - AC006065.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255855 chr11 95049422 95051338 + KDM4F protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255856 chr12 122007434 122020063 - AC069503.1 lincRNA 1 0 1 2 0 0 0 0 3 ENSG00000255857 chr12 120201291 120213138 + PXN-AS1 antisense 2233 2432 3066 1826 2577 2673 2065 2093 2101 ENSG00000255858 chr12 26315715 26317813 + AC055720.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255860 chr11 72172455 72177954 + AP000812.2 unprocessed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000255863 chr12 48921963 48939663 - AC073610.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000255866 chr12 65559591 65560889 + AC090023.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255867 chr12 31589923 31615666 + DENND5B-AS1 antisense 100874249 0 1 0 0 0 0 0 0 0 ENSG00000255870 chr11 113789242 113790027 + AP003170.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255871 chr12 16693800 16695977 + AC007529.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255872 chr9 37588413 38068687 - AL138752.2 protein_coding 0 0 1 0 0 0 0 0 0 ENSG00000255874 chr13 110863987 110870251 - LINC00346 lincRNA 283487 1 0 0 2 0 1 0 0 0 ENSG00000255875 chr19 52809824 52810708 + AC008813.1 processed_pseudogene 6 1 1 3 0 0 6 0 0 ENSG00000255882 chr12 9867027 9869808 + AC091814.1 antisense 143 105 186 58 123 104 63 102 70 ENSG00000255883 chr5 73508685 73509254 + FUNDC2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255885 chr12 7870852 7871370 + AC124891.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255886 chr12 64038562 64097618 - AC020611.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000255892 chr12 18358443 18358967 - NDFIP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255893 chr11 94472908 94473570 - AP000786.1 antisense 17 18 5 22 21 18 41 13 18 ENSG00000255899 chr6 31224342 31225058 - AL662844.2 unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000255900 chr12 126616344 126616554 - AC006065.2 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000255903 chr11 115578049 115578243 + RPL12P46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255909 chr12 19413153 19413461 + PDCD5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255910 chr12 19775451 20009937 + AC024901.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255916 chr12 132329850 132331575 + AC148477.1 antisense 101928416 0 0 0 0 0 0 0 0 0 ENSG00000255919 chr12 133217210 133217675 - AC226150.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255920 chr12 4248765 4276184 - CCND2-AS1 processed_transcript 103752584 5 4 27 14 7 0 10 4 14 ENSG00000255921 chr12 24949163 24960158 + AC026310.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000255923 chr12 126864465 126865422 + AC078878.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255928 chr11 73722349 73722694 + AP002993.1 antisense 0 0 0 1 2 3 0 0 0 ENSG00000255929 chr11 94545330 94740355 - AP000943.3 antisense 105369438 51 23 120 18 4 17 27 6 38 ENSG00000255931 chr11 61496440 61500076 + AP003108.1 lincRNA 0 2 1 0 0 0 0 0 0 ENSG00000255933 chr12 131756966 131758047 - AC117500.2 lincRNA 8 4 0 15 8 11 3 10 4 ENSG00000255944 chr12 126628172 126690322 - AC006065.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255945 chr12 127598168 127599715 + AC025252.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255946 chr12 120740470 120761592 - AC069234.1 antisense 0 1 1 0 1 3 1 2 10 ENSG00000255947 chr11 61654665 61655702 - AP002754.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000255949 chr11 67431367 67435399 - RPS6KB2-AS1 antisense 93 83 76 42 97 107 40 66 49 ENSG00000255951 chr12 28164958 28165662 + AC022364.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255958 chr12 10214161 10214761 - AC115676.1 antisense 145 172 256 226 270 309 243 190 243 ENSG00000255959 chr11 60835996 60842965 - AP000777.2 antisense 0 4 2 13 3 12 8 3 2 ENSG00000255960 chr12 18424663 18425140 + AC092851.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255964 chr12 8015024 8016406 + HSPD1P12 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000255965 chr12 124383381 124383510 + AC073916.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000255966 chr12 6532290 6533498 - AC006064.3 antisense 2 3 4 1 2 0 0 4 2 ENSG00000255967 chr12 8634367 8637608 + HADHAP2 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000255968 chr12 26318953 26421462 + AC024145.1 antisense 11 7 15 14 8 17 8 17 23 ENSG00000255970 chr12 67709047 67729475 - LINC02421 lincRNA 101927901 0 0 0 4 0 4 0 0 0 ENSG00000255972 chr12 122563735 122563762 - AC026333.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255973 chr12 5583797 5584085 + AC137627.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255974 chr19 40843538 40850447 - CYP2A6 protein_coding This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]. 1548 GO:0043231, GO:0005881, GO:0005789, GO:0005737, intracellular membrane-bounded organelle, cytoplasmic microtubule, endoplasmic reticulum membrane, cytoplasm, GO:0020037, GO:0020037, GO:0019899, GO:0016712, GO:0008395, GO:0008392, GO:0008389, GO:0005506, heme binding, heme binding, enzyme binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, steroid hydroxylase activity, arachidonic acid epoxygenase activity, coumarin 7-hydroxylase activity, iron ion binding, GO:0055114, GO:0046226, GO:0042738, GO:0042738, GO:0019373, GO:0017144, GO:0017144, GO:0009804, GO:0009804, GO:0009804, GO:0008202, GO:0006805, GO:0006082, oxidation-reduction process, coumarin catabolic process, exogenous drug catabolic process, exogenous drug catabolic process, epoxygenase P450 pathway, drug metabolic process, drug metabolic process, coumarin metabolic process, coumarin metabolic process, coumarin metabolic process, steroid metabolic process, xenobiotic metabolic process, organic acid metabolic process, 10 16 15 15 13 11 7 9 5 ENSG00000255976 chr12 67131567 67132205 - RAB11AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255977 chr12 7606834 7607331 + AC006927.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255980 chr11 69425690 69429621 + AP000439.3 lincRNA 102724265 0 0 0 0 0 0 0 0 0 ENSG00000255982 chr11 114512706 114513431 - NXPE2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255983 chr12 5388589 5406651 + AC007848.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000255986 chr16 56635739 56637086 + MT1JP transcribed_unprocessed_pseudogene 4498 0 0 0 0 0 0 0 0 0 ENSG00000255987 chr17 35514766 35515186 - TOMM20P2 processed_pseudogene 7 6 14 13 3 19 32 1 15 ENSG00000255988 chr12 25440875 25441052 - TUBB4BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255991 chr12 39466442 39467345 - AC121334.1 processed_pseudogene 0 0 0 0 0 7 0 1 0 ENSG00000255992 chr12 131924736 131929351 - AC131009.1 lincRNA 0 1 2 1 1 13 2 1 0 ENSG00000255993 chr12 18692762 18694096 + PSMC1P9 processed_pseudogene 0 0 0 0 1 1 0 0 0 ENSG00000255995 chr11 93991346 93991429 - AP002795.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255996 chr12 5032388 5032941 - AC005906.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000255998 chr12 126690479 126695832 + AC069235.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256001 chr12 127145072 127146532 - AC079949.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256004 chr12 8678773 8679670 + AC092490.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256006 chr11 18405609 18406731 + AC084117.1 sense_intronic 1 0 1 3 3 8 0 5 0 ENSG00000256007 chr11 72685075 72693808 + ARAP1-AS1 antisense 1650 1742 1631 1295 1737 747 1390 1498 659 ENSG00000256008 chr12 120629611 120641591 - AC125616.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000256011 chr12 12962300 12963539 + AC007688.2 antisense 0 0 0 0 0 2 0 0 0 ENSG00000256013 chr16 10529440 10532082 + AC027277.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256019 chr12 11048332 11049256 - TAS2R63P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256020 chr12 585865 586486 - AC006205.2 sense_intronic 0 5 3 1 7 0 2 5 7 ENSG00000256021 chr12 21447545 21448314 - ELOCP31 processed_pseudogene 0 0 0 0 0 0 1 1 0 ENSG00000256022 chr12 127631248 127636467 - LINC02411 lincRNA 101927637 0 0 0 0 0 0 0 0 0 ENSG00000256025 chr12 2220537 2223479 - CACNA1C-AS4 antisense 100874234 0 0 0 0 0 0 0 0 0 ENSG00000256028 chr12 122975320 122982907 + AC026362.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000256029 chr1 159834474 159873053 - SNHG28 protein_coding 11 14 11 17 12 9 25 15 21 ENSG00000256030 chr12 2786931 2794295 - CBX3P4 transcribed_processed_pseudogene 0 0 0 1 1 3 0 0 0 ENSG00000256031 chr12 118989727 119001842 + AC087885.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000256034 chr11 73760563 73761070 + AP002770.1 antisense 127 154 156 62 56 65 55 53 38 ENSG00000256035 chr11 102806948 102807916 - AP000619.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256037 chr12 67351436 67352039 + MRPL40P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256039 chr12 10553363 10558049 + LINC02446 lincRNA 1 9 37 7 7 49 5 10 26 ENSG00000256040 chr9 116398157 116400606 - PAPPA-AS1 antisense 493913 GO:0016021, GO:0005789, GO:0005575, integral component of membrane, endoplasmic reticulum membrane, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000256041 chr11 63032503 63033103 - AP001858.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256043 chr4 155924118 155953917 - CTSO protein_coding The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008]. 1519 GO:0005764, GO:0005615, lysosome, extracellular space, GO:0005515, GO:0004197, protein binding, cysteine-type endopeptidase activity, GO:0051603, GO:0006508, proteolysis involved in cellular protein catabolic process, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000256044 chr12 122749481 122749586 - AC026333.2 processed_pseudogene 0 0 0 6 5 0 2 2 0 ENSG00000256045 chrX 55181391 55182920 - MTRNR2L10 protein_coding 100463488 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0048019, receptor antagonist activity, GO:2000272, GO:1900118, negative regulation of signaling receptor activity, negative regulation of execution phase of apoptosis, 0 0 0 0 0 0 0 0 0 ENSG00000256050 chr14 104681146 104684932 + AL583722.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000256053 chr14 103562962 103607523 + APOPT1 protein_coding This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 84334 GO:0099617, GO:0005739, GO:0005739, matrix side of mitochondrial inner membrane, mitochondrion, mitochondrion, GO:1904960, GO:1904960, GO:1903427, GO:0097193, GO:0050821, GO:0033617, GO:0033617, GO:0000302, positive regulation of cytochrome-c oxidase activity, positive regulation of cytochrome-c oxidase activity, negative regulation of reactive oxygen species biosynthetic process, intrinsic apoptotic signaling pathway, protein stabilization, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, response to reactive oxygen species, 31 18 17 27 26 30 21 27 22 ENSG00000256056 chr12 27592461 27594039 - AC087257.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256060 chr19 57363511 57365353 + TRAPPC2B protein_coding 10597 GO:0048471, GO:0043231, GO:0030008, GO:0005793, GO:0005783, GO:0005737, GO:0005654, GO:0005634, GO:0005634, perinuclear region of cytoplasm, intracellular membrane-bounded organelle, TRAPP complex, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0006888, endoplasmic reticulum to Golgi vesicle-mediated transport, 20 11 10 250 173 111 159 147 41 ENSG00000256061 chr15 55410525 55508234 - DNAAF4 protein_coding This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]. 161582 GO:0097730, GO:0005886, GO:0005829, GO:0005813, GO:0005737, GO:0005634, GO:0005576, non-motile cilium, plasma membrane, cytosol, centrosome, cytoplasm, nucleus, extracellular region, GO:0030331, GO:0030331, GO:0005515, estrogen receptor binding, estrogen receptor binding, protein binding, GO:0061136, GO:0036159, GO:0036159, GO:0036158, GO:0036158, GO:0033146, GO:0007507, GO:0007368, GO:0007368, GO:0003351, GO:0003341, GO:0003341, GO:0001764, regulation of proteasomal protein catabolic process, inner dynein arm assembly, inner dynein arm assembly, outer dynein arm assembly, outer dynein arm assembly, regulation of intracellular estrogen receptor signaling pathway, heart development, determination of left/right symmetry, determination of left/right symmetry, epithelial cilium movement involved in extracellular fluid movement, cilium movement, cilium movement, neuron migration, 9 2 4 5 4 0 5 6 2 ENSG00000256064 chr12 130419535 130421019 - AC063926.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256069 chr12 9228533 9275817 - A2MP1 transcribed_unprocessed_pseudogene 3 6 3 12 20 0 27 14 3 10 ENSG00000256070 chr12 33454345 33455452 + AC016956.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256071 chr12 117889454 117891008 + AC084291.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256072 chr12 66251745 66257434 - AC078889.1 antisense 79 54 179 58 54 106 65 49 102 ENSG00000256073 chr21 32393130 32393960 + URB1-AS1 lincRNA 84996 GO:0005515, protein binding, 1 3 11 2 1 0 0 2 0 ENSG00000256075 chr12 68473741 68474902 + AC008033.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256077 chr12 67571197 67589987 - LINC02442 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256079 chr12 25435581 25436238 - AC092451.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256081 chr14 21585290 21586280 - AC243972.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256083 chr12 65934777 65948479 - AC090673.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256084 chr12 14216590 14221297 + AC092112.1 lincRNA 0 0 4 0 0 5 0 0 4 ENSG00000256085 chr12 129521303 129522763 - AC130404.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256087 chr19 52031379 52095738 - ZNF432 protein_coding 9668 GO:0005654, GO:0005634, nucleoplasm, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 79 93 77 129 118 91 113 73 74 ENSG00000256091 chr11 113711720 113712398 + MTRF1LP1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000256092 chr12 123363868 123366113 + AC137767.1 lincRNA 35 41 75 23 25 26 11 12 14 ENSG00000256093 chr12 125056359 125056581 - AC122688.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256098 chr11 74142151 74142358 + AP002392.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000256100 chr11 63974620 63988346 + AP000721.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256101 chr12 8321876 8329614 + AC092745.1 lincRNA 2 2 3 0 3 4 1 1 0 ENSG00000256103 chr12 6270168 6270425 - ATP5MFP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256108 chr12 132745156 132745729 + AC135586.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000256115 chr12 5233997 5243151 - LINC02443 lincRNA 101929584 0 0 0 0 0 0 0 0 0 ENSG00000256116 chr11 64229214 64234352 - AP001453.1 antisense 63 22 48 24 52 38 41 45 34 ENSG00000256120 chr12 24223271 24237965 + SOX5-AS1 lincRNA 101928471 0 0 0 0 0 0 0 0 0 ENSG00000256124 chr17 72030291 72041297 + LINC01152 lincRNA 102606463 0 0 0 0 0 0 0 0 0 ENSG00000256125 chr12 126458462 126458792 - AC005868.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256128 chr12 126729787 126772411 - LINC00944 lincRNA 1 1 9 3 6 23 7 10 7 ENSG00000256134 chr12 15971890 15972609 - EGLN3P1 processed_pseudogene 0 1 0 0 0 0 3 0 0 ENSG00000256136 chr12 8406833 8407195 - AC092865.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256137 chr12 129681427 129698227 - AC117373.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256138 chr12 18493051 18493723 + ZKSCAN7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256139 chr12 109111218 109125594 + AC007637.1 sense_overlapping 2 2 6 0 0 0 0 1 3 ENSG00000256146 chr12 5315961 5319347 + AC006206.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256148 chr11 73510658 73510820 + AP000763.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256149 chr12 118849354 118908930 - AC087863.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256150 chr12 2695765 2812902 - AC092471.1 processed_transcript 283440 2 2 8 2 0 0 2 1 0 ENSG00000256151 chr12 130990138 130993976 - ADGRD1-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256152 chr12 122865335 122867021 + AC027290.1 lincRNA 395 307 420 702 570 542 534 417 430 ENSG00000256155 chr12 10358464 10361045 - LINC02598 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256157 chr12 20845065 20845260 + AC011604.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256159 chr12 31477506 31477987 + AC022080.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256162 chr6 130827406 130837135 + SMLR1 protein_coding 100507203 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000256166 chr6 31293908 31301642 - LINC02571 lincRNA 105375015 0 0 0 0 0 0 0 0 0 ENSG00000256167 chr11 113789231 113791366 + ATF4P4 transcribed_processed_pseudogene 0 1 0 0 1 0 0 0 1 ENSG00000256171 chr12 8141168 8142697 - GCSHP4 processed_pseudogene 12 8 10 2 5 13 2 5 4 ENSG00000256172 chr12 67440998 67442559 - LINC02420 lincRNA 102724433 0 0 0 0 0 0 0 0 0 ENSG00000256176 chr12 31311617 31312029 + AC024940.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256181 chr11 63265836 63266256 - AP001880.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256185 chr12 26335864 26336950 - AC055720.2 3prime_overlapping_ncRNA 0 0 0 1 2 7 0 0 0 ENSG00000256188 chr12 11132958 11134644 - TAS2R30 protein_coding 259293 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000256189 chr11 73991283 73992180 - AP003717.2 processed_pseudogene 1 1 2 0 1 2 0 2 0 ENSG00000256192 chr12 64266413 64266766 + AC012158.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256193 chr12 127915372 127951552 + LINC00507 lincRNA 100862680 0 0 0 0 0 0 0 0 0 ENSG00000256195 chr11 114360635 114380045 - AP002518.1 antisense 101928940 0 0 0 0 0 0 0 0 0 ENSG00000256196 chr11 60918469 60925397 - AP003721.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000256197 chr12 3149797 3151476 + TSPAN9-IT1 sense_intronic 0 0 0 0 1 0 0 0 0 ENSG00000256199 chr12 64507166 64533638 - AC078962.2 antisense 0 0 0 0 0 0 0 2 0 ENSG00000256204 chr12 130977562 130978768 + AC073862.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256206 chr11 14493783 14520344 - AC018523.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256209 chr12 131469311 131492951 - AC073578.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256210 chr19 14792318 14792533 + AC005255.1 processed_pseudogene 6 6 10 3 3 2 0 2 6 ENSG00000256211 chr12 16989126 16989936 + AC023512.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256218 chr12 5366048 5367774 - AC007848.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256220 chr11 61227168 61248533 + AP003037.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000256221 chr14 22332922 22334685 - AC244502.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256222 chr20 57358442 57359980 - MTRNR2L3 protein_coding 100462983 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0048019, receptor antagonist activity, GO:2000272, GO:1900118, negative regulation of signaling receptor activity, negative regulation of execution phase of apoptosis, 0 0 0 0 0 0 0 0 0 ENSG00000256223 chr12 133130575 133159465 + ZNF10 protein_coding The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. [provided by RefSeq, Jul 2008]. 7556 GO:0032991, GO:0005634, GO:0000785, protein-containing complex, nucleus, chromatin, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 59 36 69 138 55 103 126 48 38 ENSG00000256226 chr12 27105151 27161393 - AC092747.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000256229 chr19 20167228 20200490 + ZNF486 protein_coding 90649 GO:0070062, GO:0000785, extracellular exosome, chromatin, GO:0046872, GO:0003674, GO:0000981, GO:0000978, metal ion binding, molecular_function, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0008150, GO:0006357, GO:0006355, biological_process, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 95 77 125 99 173 197 90 111 104 ENSG00000256232 chr12 31363481 31369301 - LINC02387 lincRNA 101929027 0 0 0 0 0 0 0 0 0 ENSG00000256234 chr12 26211164 26335856 - AC022509.2 antisense 0 0 1 0 0 8 0 1 2 ENSG00000256235 chr5 150777946 150796734 + SMIM3 protein_coding 85027 GO:0016021, integral component of membrane, GO:0042802, GO:0005515, identical protein binding, protein binding, 95 92 124 28 102 56 48 94 66 ENSG00000256237 chr12 11541395 11555838 - AC007450.1 lincRNA 0 0 0 0 1 0 0 0 1 ENSG00000256238 chr12 16399274 16402406 - SUPT16HP1 processed_pseudogene 4 1 2 8 2 10 3 0 5 ENSG00000256243 chr14 35235180 35235651 - RPL7AP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256249 chr12 122687125 122715979 + AC026333.3 lincRNA 4192 5595 7016 16421 13477 23722 27341 22850 30815 ENSG00000256250 chr12 130810606 130812438 + AC073912.1 lincRNA 0 2 0 0 0 1 3 0 3 ENSG00000256254 chr11 102766801 102767927 - AP000619.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256256 chr12 25882955 25885855 - AC019209.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256257 chr12 2048352 2049463 + CACNA1C-IT2 sense_intronic 100874369 0 0 0 0 0 0 0 0 0 ENSG00000256258 chr12 131621891 131623203 - AC117500.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256259 chr12 66027725 66031066 - LINC02425 lincRNA 105369810 0 0 0 0 0 0 0 0 0 ENSG00000256262 chr12 109052350 109053952 - USP30-AS1 antisense 10 10 8 12 5 5 10 2 9 ENSG00000256263 chr12 12310 13501 + DDX11L8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256268 chr12 65602869 65612997 + LINC02454 lincRNA 105369807 0 0 0 0 0 0 0 0 0 ENSG00000256269 chr11 119084866 119093549 + HMBS protein_coding This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 3145 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0005515, GO:0004418, GO:0004418, protein binding, hydroxymethylbilane synthase activity, hydroxymethylbilane synthase activity, GO:0018160, GO:0006783, GO:0006783, GO:0006783, GO:0006782, peptidyl-pyrromethane cofactor linkage, heme biosynthetic process, heme biosynthetic process, heme biosynthetic process, protoporphyrinogen IX biosynthetic process, 3 3 8 17 7 4 8 4 10 ENSG00000256271 chr12 2668500 2672220 - CACNA1C-AS2 antisense 100874235 0 2 1 3 0 0 3 0 2 ENSG00000256273 chr12 68344664 68349959 + AC022511.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256274 chr12 11076769 11079171 - TAS2R64P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256278 chr15 84611689 84614969 - AC048382.1 antisense 4 0 0 0 1 0 1 0 0 ENSG00000256280 chr11 63834667 63834943 - AP006289.1 processed_pseudogene 10 6 11 10 7 9 9 8 5 ENSG00000256281 chr11 115532322 115532953 - AP003174.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256282 chr11 18595459 18599683 - AC112694.1 transcribed_processed_pseudogene 0 0 0 5 0 0 0 0 0 ENSG00000256283 chr12 15255213 15255823 - METTL8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256285 chr12 66563524 66563694 + OSBPL9P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256286 chr12 126874821 126876232 + AC078878.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256287 chr12 20014780 20098868 + LINC02398 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256288 chr12 10332861 10338292 - AC022075.2 lincRNA 113523642 0 0 0 0 0 0 0 0 0 ENSG00000256292 chr12 127274467 127284283 - LINC02376 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256293 chr12 64338178 64338797 - AC135279.2 processed_pseudogene 3 0 4 1 1 6 0 2 0 ENSG00000256294 chr19 44112181 44134816 + ZNF225 protein_coding 7768 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 12 18 12 15 32 15 25 15 13 ENSG00000256298 chr12 130047132 130048376 + AC135388.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256299 chr12 130810821 130812622 - AC073912.2 lincRNA 0 0 0 3 0 1 5 3 4 ENSG00000256306 chr12 13526854 13547582 + AC007527.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000256310 chr12 126524248 126524626 + NDUFA5P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256311 chr12 119225834 119259017 - AC084880.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256312 chr12 132190213 132190997 + AC138466.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000256314 chr12 64654060 64655019 - AC078962.3 antisense 3 2 0 3 8 16 12 1 21 ENSG00000256315 chr11 115396756 115397658 + AP000462.2 processed_transcript 105369507 0 0 0 0 0 0 0 0 0 ENSG00000256321 chr12 23099368 23191587 + AC087258.1 lincRNA 101928441 0 0 0 0 0 0 0 0 0 ENSG00000256325 chr12 68828118 68828553 + AC025423.1 antisense 3 3 11 2 1 0 0 1 2 ENSG00000256331 chr12 7604350 7605214 - NIFKP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256338 chr15 28315651 28316059 + RPL41P2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000256339 chr12 14841092 14844708 + AC007655.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256340 chr16 18571162 18598328 + ABCC6P1 transcribed_unprocessed_pseudogene 0 10 5 0 2 1 1 2 0 ENSG00000256341 chr11 64118272 64119210 - AP006333.1 antisense 0 0 0 0 0 2 1 0 0 ENSG00000256343 chr12 130651371 130669233 + AC095350.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256346 chr12 14169746 14169877 + AC092470.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256347 chr11 73248779 73249867 + OR8R1P unprocessed_pseudogene 2 1 2 0 1 0 0 0 0 ENSG00000256349 chr11 66509079 66533613 + AP002748.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256350 chr14 21698954 21699151 - AC243972.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256351 chr12 109859767 109860420 - AC007834.2 processed_pseudogene 2 3 4 17 17 10 9 4 8 ENSG00000256353 chr12 23108458 23108493 - AC087258.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256355 chr12 67424272 67424986 - NTAN1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256356 chr12 4097451 4099519 + HSPA8P5 processed_pseudogene 0 0 0 10 4 2 1 7 0 ENSG00000256357 chr14 94430633 94464730 + AL132708.1 antisense 3 3 3 4 5 9 1 3 2 ENSG00000256358 chr17 64308316 64308690 - RPL31P57 processed_pseudogene 1 3 0 5 4 2 0 2 3 ENSG00000256361 chr11 18511043 18511475 - AC027544.1 processed_pseudogene 6 11 9 7 6 24 2 3 3 ENSG00000256362 chr12 127324155 127340072 - LINC02375 lincRNA 101927616 0 0 0 0 0 0 0 0 0 ENSG00000256364 chr12 120697124 120699541 - AC069234.2 antisense 16 16 32 45 27 19 26 11 35 ENSG00000256371 chr12 22573425 22575105 + LRRC34P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256372 chr12 31853021 31853407 - AC023050.2 processed_pseudogene 0 0 2 3 1 0 0 3 3 ENSG00000256374 chr1 145241630 145242124 - PPIAL4D protein_coding 645142 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0016018, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 0 0 0 0 0 0 0 0 0 ENSG00000256377 chr12 27696388 27710770 - AC009509.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256378 chr12 27935523 27935749 - AC008011.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256379 chr14 21903077 21904598 + TRAV8-5 TR_V_pseudogene 0 0 3 1 0 0 0 4 3 ENSG00000256381 chr12 4645496 4648027 + AC005832.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000256385 chr14 21611924 21612381 - UBE2NP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256389 chr12 17589257 17615463 + AC087321.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256393 chr12 93083598 93083675 - RPL41P5 processed_pseudogene 3 3 4 2 0 5 2 2 1 ENSG00000256394 chr4 155829729 155866273 - ASIC5 protein_coding This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]. 51802 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0015280, GO:0015252, ligand-gated sodium channel activity, proton channel activity, GO:1902600, GO:0035725, GO:0034220, proton transmembrane transport, sodium ion transmembrane transport, ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000256399 chr12 63887379 63888598 - AC079866.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256400 chr12 11097179 11097274 - AC018630.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256403 chr11 72410716 72412079 + AP003785.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000256407 chr1 54132686 54200073 - AL357673.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256417 chr12 5290480 5383653 + AC006206.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256420 chr12 66563967 66569194 - OSBPL9P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256422 chr11 104445868 104609321 - LINC02552 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256424 chr12 131647113 131648121 - LINC02414 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256427 chr12 9240406 9261050 + AC010175.1 lincRNA 0 0 2 10 1 14 4 0 0 ENSG00000256433 chr12 6393905 6396148 + AC005840.2 lincRNA 9 17 18 25 34 9 33 21 15 ENSG00000256436 chr12 11030387 11031407 - TAS2R31 protein_coding TAS2R44 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]. 259290 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0033038, GO:0033038, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000256440 chr12 25831416 25834182 - AC019209.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256441 chr11 69737298 69738017 - AP001888.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256442 chr12 9647014 9648009 - AC010186.1 antisense 105369728 0 0 0 0 0 0 0 0 0 ENSG00000256443 chr11 61539516 61542259 - AP003559.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256448 chr11 73405297 73410682 + AP000763.3 antisense 178 136 167 606 525 851 996 429 566 ENSG00000256450 chr12 16513445 16514371 + AC007552.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256452 chr11 113818077 113822458 + AP003170.3 antisense 2 0 0 0 0 2 0 1 1 ENSG00000256453 chr5 140670794 140673586 - DND1 protein_coding This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010]. 373863 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0035198, GO:0005515, GO:0003730, GO:0003729, GO:0003723, miRNA binding, protein binding, mRNA 3'-UTR binding, mRNA binding, RNA binding, GO:0061158, GO:0060965, GO:0060965, GO:0048255, GO:0007281, GO:0007275, 3'-UTR-mediated mRNA destabilization, negative regulation of gene silencing by miRNA, negative regulation of gene silencing by miRNA, mRNA stabilization, germ cell development, multicellular organism development, 147 161 184 136 223 255 122 170 152 ENSG00000256458 chr2 203328459 203329226 - AC080075.1 antisense 0 1 0 2 0 1 1 0 3 ENSG00000256462 chr10 5524976 5525742 - AL732437.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256463 chr18 78980275 79002677 + SALL3 protein_coding This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]. 27164 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045879, GO:0035137, GO:0035136, GO:0021891, GO:0006357, negative regulation of smoothened signaling pathway, hindlimb morphogenesis, forelimb morphogenesis, olfactory bulb interneuron development, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000256464 chr11 18490243 18490955 - YWHABP2 processed_pseudogene 16 11 10 19 16 11 18 7 12 ENSG00000256465 chr12 31893370 31893702 + AC023050.3 processed_pseudogene 1 1 0 8 1 0 0 1 3 ENSG00000256469 chr11 94874052 94925521 - AP002383.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256473 chr12 23637973 23638487 + AC087260.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256474 chr14 21829539 21830070 + TRAV11 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256480 chr12 7237432 7240986 + AC018653.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256481 chr11 64081690 64087175 + AP006333.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256482 chr12 24830421 24836558 + AC023796.2 antisense 0 0 0 0 0 0 1 0 0 ENSG00000256484 chr12 131366660 131371059 + AC140118.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256494 chr12 126400792 126405528 - AC007368.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256496 chr12 127317709 127319986 - AC073913.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256499 chr12 20120980 20129813 - LINC02468 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256500 chr14 103562962 103685924 + AL139300.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256502 chr12 127344258 127344402 - AC073913.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256504 chr12 27704568 27708365 + AC009509.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256508 chr11 69012283 69018447 + MRGPRF-AS1 antisense 101928200 0 0 0 0 0 0 0 0 0 ENSG00000256512 chr12 27798641 27800708 - AC009511.1 antisense 0 6 2 0 0 0 2 4 1 ENSG00000256513 chr12 28821975 28825831 - AC022081.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256514 chr11 67351572 67373584 - AP003419.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256518 chr11 72158822 72159734 + AP000812.3 unprocessed_pseudogene 0 0 1 0 0 4 0 0 0 ENSG00000256525 chr17 64477785 64497036 - POLG2 protein_coding This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]. 11232 GO:0042645, GO:0005760, GO:0005759, GO:0005739, GO:0005737, mitochondrial nucleoid, gamma DNA polymerase complex, mitochondrial matrix, mitochondrion, cytoplasm, GO:0070182, GO:0042802, GO:0030337, GO:0005515, GO:0003887, GO:0003690, DNA polymerase binding, identical protein binding, DNA polymerase processivity factor activity, protein binding, DNA-directed DNA polymerase activity, double-stranded DNA binding, GO:1900264, GO:0071897, GO:0070584, GO:0032042, GO:0022904, GO:0007005, GO:0006281, GO:0006264, GO:0006264, GO:0006261, GO:0001701, positive regulation of DNA-directed DNA polymerase activity, DNA biosynthetic process, mitochondrion morphogenesis, mitochondrial DNA metabolic process, respiratory electron transport chain, mitochondrion organization, DNA repair, mitochondrial DNA replication, mitochondrial DNA replication, DNA-dependent DNA replication, in utero embryonic development, 39 72 69 79 86 92 76 58 58 ENSG00000256533 chr11 114453064 114454123 + AP002373.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256537 chr12 11171222 11176016 + SMIM10L1 protein_coding 100129361 0 0 0 0 0 0 4 0 0 ENSG00000256538 chr12 34037438 34056740 + AC046130.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256540 chr12 166856 182399 - AC007406.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256542 chr12 132277349 132280900 + AC148477.2 antisense 0 0 0 1 0 0 0 0 0 ENSG00000256546 chr12 122063306 122068616 + AC156455.1 processed_transcript 100506691 0 0 0 0 0 0 0 0 0 ENSG00000256551 chr12 128086985 128118132 - LINC02369 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256552 chr12 8320381 8369555 + AC092745.2 transcribed_processed_pseudogene 0 1 0 0 3 0 2 1 0 ENSG00000256553 chr14 21642889 21643578 + TRAV1-2 TR_V_gene 2 3 4 15 8 8 14 0 15 ENSG00000256557 chr12 27608733 27609046 - AC009509.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256560 chr12 109354083 109359488 - LINC01486 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256563 chr12 132972338 132972890 - NANOGNBP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256564 chr12 16567411 16573940 + AC007552.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256566 chr20 2467212 2508907 - AL049650.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256568 chr11 73176694 73181696 + AP002761.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256569 chr12 120721507 120723639 - AC069234.3 antisense 28 17 10 6 18 22 19 14 11 ENSG00000256571 chr12 63878787 63879474 + AC079866.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000256574 chr10 45302298 45315608 - OR13A1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79290 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000256576 chr12 132186735 132189695 - LINC02361 lincRNA 100996246 6 9 13 8 5 4 8 4 10 ENSG00000256577 chr12 203642 205094 + AC007406.4 antisense 101929384 0 1 1 0 0 0 0 1 0 ENSG00000256581 chr12 129013336 129016663 + NLRP9P1 unprocessed_pseudogene 35 55 34 19 65 53 36 53 29 ENSG00000256582 chr12 9704077 9709350 + LINC02390 lincRNA 3 1 1 0 0 0 6 2 1 ENSG00000256588 chr11 18507608 18508820 - AC027544.2 sense_intronic 12 19 5 7 18 3 10 4 15 ENSG00000256589 chr12 8254527 8308855 - ENPP7P5 unprocessed_pseudogene 1 1 3 0 1 7 2 0 6 ENSG00000256590 chr14 22469041 22469698 - TRDV3 TR_V_gene 0 0 0 2 1 0 0 0 0 ENSG00000256591 chr11 61429220 61485822 + AP003108.2 protein_coding 148 140 160 81 105 120 116 69 86 ENSG00000256594 chr12 9648047 9658412 + AC010186.2 transcribed_unprocessed_pseudogene 374443 25 20 71 37 18 62 45 20 40 ENSG00000256596 chr12 124206228 124209018 + AC026358.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256597 chr12 127881617 127898639 + LINC02393 lincRNA 400087 0 0 0 0 0 0 0 0 0 ENSG00000256603 chr11 113770393 113771691 - AP003170.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256609 chr12 119182048 119183259 - AC084880.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256612 chr19 40924219 40950660 + CYP2B7P transcribed_unprocessed_pseudogene 1556 0 3 0 2 0 0 5 2 0 ENSG00000256614 chr12 34249481 34249958 + AK6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256615 chr12 21662313 21760032 + AC010197.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256616 chr18 12073232 12076654 - AP002414.2 transcribed_processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000256618 chr17 22523111 22524663 + MTRNR2L1 protein_coding 100462977 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0048019, receptor antagonist activity, GO:2000272, GO:1900118, negative regulation of signaling receptor activity, negative regulation of execution phase of apoptosis, 0 0 0 0 0 0 0 0 0 ENSG00000256625 chr12 27121910 27147664 + AC092747.2 unprocessed_pseudogene 1 3 0 0 0 6 1 3 0 ENSG00000256626 chr12 10040848 10045711 + AC024224.1 unprocessed_pseudogene 0 0 0 1 0 0 2 0 0 ENSG00000256627 chr12 15803164 15804158 + AC073651.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256628 chr3 101676475 101679217 + ZBTB11-AS1 antisense 100009676 84 81 137 66 76 143 87 57 87 ENSG00000256630 chr12 128437778 128439206 - AC090424.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256632 chr12 132688049 132714912 + AC135586.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000256633 chr11 72584572 72587979 + AP005019.1 antisense 2 2 7 9 15 21 5 2 2 ENSG00000256637 chr2 103874310 104077778 + LINC01965 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256640 chr12 26800843 26801302 + AC023051.2 processed_pseudogene 0 1 0 0 0 0 1 4 0 ENSG00000256642 chr16 34158585 34160036 - LINC00273 lincRNA 649159 0 0 0 0 0 0 0 0 0 ENSG00000256643 chr12 128023788 128027166 - LINC02441 lincRNA 105370070 0 0 0 0 0 0 0 0 0 ENSG00000256646 chr7 42909273 42932174 - AC010132.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256650 chr12 15112363 15114698 - RERG-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000256651 chr12 10831074 10832016 - AC006518.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256654 chr12 4909867 5026012 + AC005906.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000256657 chr12 11196075 11196996 - AC244131.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256658 chr12 12723297 12724011 - AC008115.1 antisense 0 0 5 1 8 1 7 2 14 ENSG00000256659 chr12 128118217 128121952 + LINC02368 lincRNA 101927694 0 0 0 0 0 0 0 0 0 ENSG00000256660 chr12 10010627 10018619 + CLEC12B protein_coding 387837 GO:0032991, GO:0016021, GO:0009897, GO:0009897, protein-containing complex, integral component of membrane, external side of plasma membrane, external side of plasma membrane, GO:0030547, GO:0030246, GO:0019903, GO:0019903, receptor inhibitor activity, carbohydrate binding, protein phosphatase binding, protein phosphatase binding, GO:2000272, GO:2000272, GO:0045953, GO:0002769, GO:0002769, negative regulation of signaling receptor activity, negative regulation of signaling receptor activity, negative regulation of natural killer cell mediated cytotoxicity, natural killer cell inhibitory signaling pathway, natural killer cell inhibitory signaling pathway, 504 560 298 666 855 405 807 593 398 ENSG00000256661 chr12 8776219 8830947 - A2ML1-AS1 antisense 0 3 1 4 2 0 2 0 3 ENSG00000256663 chr12 20551590 20553012 + AC112777.1 processed_pseudogene 5 3 0 2 1 0 1 0 0 ENSG00000256664 chr12 68841946 68842384 + AC025423.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256667 chr12 10588063 10599669 - KLRA1P transcribed_unprocessed_pseudogene 6 3 29 22 6 66 12 3 28 ENSG00000256670 chr12 64599078 64609459 - AC078962.4 antisense 1 2 2 0 1 0 0 0 0 ENSG00000256671 chr2 110446640 110473075 - LIMS4 protein_coding 100288695 GO:0046872, GO:0005515, metal ion binding, protein binding, 0 0 1 0 0 0 0 0 0 ENSG00000256672 chr12 674801 684127 - LINC02455 lincRNA 0 3 0 0 0 0 0 0 0 ENSG00000256673 chr12 9398355 9414851 - AC141557.1 unprocessed_pseudogene 0 0 0 3 0 1 0 0 0 ENSG00000256674 chr11 114583253 114584692 + AC020549.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256678 chr12 68805011 68805479 - AC025423.3 processed_pseudogene 2 0 1 3 0 3 0 1 0 ENSG00000256681 chr11 73850469 73851211 - CCDC58P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256682 chr12 10894943 10896952 - AC006518.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256683 chr19 51964343 51986856 - ZNF350 protein_coding 59348 GO:0017053, GO:0016604, GO:0016363, GO:0005654, GO:0005654, GO:0005634, GO:0000785, transcription repressor complex, nuclear body, nuclear matrix, nucleoplasm, nucleoplasm, nucleus, chromatin, GO:0046872, GO:0005515, GO:0003700, GO:0003677, GO:0001227, GO:0001162, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, GO:0006355, GO:0000122, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 352 304 291 173 322 246 174 188 195 ENSG00000256684 chr11 96508425 96514748 + AP003781.1 lincRNA 105369443 0 0 0 0 0 0 0 0 0 ENSG00000256686 chr12 25782706 25814171 - AC019209.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256690 chr11 62832234 62834043 + AP001160.1 antisense 105369332 17 31 23 80 102 66 60 56 78 ENSG00000256691 chr12 3462718 3463586 - AC005908.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256694 chr12 164664 166321 - AC026369.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256695 chr12 120389546 120395994 + AC003982.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256699 chr12 129208601 129212662 + TMEM132D-AS2 lincRNA 101927735 0 0 0 0 0 0 0 0 0 ENSG00000256704 chr18 60009994 60011143 - SDCCAG3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256705 chr14 101833435 101839531 - AL137779.1 antisense 6 7 6 8 5 11 15 7 17 ENSG00000256706 chr12 1917951 1922867 + AC005342.2 antisense 4 5 17 3 6 5 7 2 0 ENSG00000256708 chr12 68143318 68143690 + AC007458.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256709 chrX 106327534 106327824 + AL133271.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256712 chr12 11166090 11171353 - AC134349.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000256713 chr11 61241042 61251448 + PGA5 protein_coding This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]. 5222 GO:0097486, GO:0070062, multivesicular body lumen, extracellular exosome, GO:0004190, aspartic-type endopeptidase activity, GO:0044267, GO:0007586, GO:0006508, cellular protein metabolic process, digestion, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000256714 chr12 22395088 22398075 - AC087318.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256717 chr11 115659658 115843146 + AP002991.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256720 chr12 9135084 9135591 + BTG1P1 processed_pseudogene 5 2 1 6 4 6 16 0 6 ENSG00000256721 chr12 2269776 2288937 + CACNA1C-IT3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000256723 chr11 73994972 73996151 - AP003717.3 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000256732 chr12 126610034 126690318 - AC006065.4 lincRNA 100996671 0 0 0 0 0 0 0 0 0 ENSG00000256733 chr11 61055737 61067535 + AP003721.2 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000256734 chr11 18450112 18450868 - AC027544.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256737 chr14 21563819 21565084 + RBBP4P5 processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000256739 chr11 72351347 72353210 + AP002892.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256742 chr12 121580792 121593504 + AC145422.1 lincRNA 0 2 5 1 1 5 0 0 0 ENSG00000256745 chr11 94188449 94188997 - AP002784.2 processed_pseudogene 66 28 69 12 30 31 25 41 31 ENSG00000256746 chr11 47270657 47272110 - AC018410.1 antisense 101928943 2 1 0 1 0 0 0 0 0 ENSG00000256747 chr12 27779821 27781067 - AC009511.2 antisense 3 1 1 2 0 6 0 1 7 ENSG00000256748 chr12 4601991 4603420 - AC005832.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256750 chr12 118758754 118761679 - LINC02423 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256751 chr12 14567750 14619755 + PLBD1-AS1 antisense 134 83 97 23 44 52 38 30 19 ENSG00000256752 chr11 93998643 93999218 - HPRT1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256756 chr12 17400399 17400914 + TIMM17BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256757 chr11 113405321 113412117 + AP002840.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256762 chr17 45999250 45999694 + STH protein_coding 246744 GO:0048471, GO:0005737, GO:0005634, perinuclear region of cytoplasm, cytoplasm, nucleus, GO:0005515, protein binding, GO:0048026, positive regulation of mRNA splicing, via spliceosome, 0 0 0 0 0 0 0 0 0 ENSG00000256769 chr12 2603350 2607440 - CACNA1C-AS3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256771 chr19 19865886 19894674 + ZNF253 protein_coding 56242 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045892, GO:0006357, GO:0006355, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 11 3 15 23 12 31 19 4 10 ENSG00000256774 chr12 22596228 22596551 + AC087241.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256777 chr12 66275940 66276651 - PDCL3P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256779 chr11 95037482 95039811 + AP002383.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256783 chr12 132457160 132460024 + AC079031.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256789 chr11 63637677 63658962 + AP000753.2 antisense 7 9 5 8 0 33 7 3 11 ENSG00000256797 chr12 9881489 9895833 + KLRF2 protein_coding 100431172 GO:0005887, integral component of plasma membrane, GO:0042803, GO:0030246, GO:0005515, protein homodimerization activity, carbohydrate binding, protein binding, GO:0043320, GO:0001816, natural killer cell degranulation, cytokine production, 0 0 0 2 1 0 0 0 0 ENSG00000256799 chr12 4635349 4636140 - AC005832.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256802 chr15 29674990 29680957 + AC022613.1 antisense 100130111 0 0 0 0 0 0 0 0 0 ENSG00000256803 chr12 10015240 10030606 - AC024224.2 antisense 143 150 89 214 248 112 262 158 124 ENSG00000256804 chr12 132126461 132126764 - AC138466.2 processed_pseudogene 2 1 3 4 2 6 6 3 6 ENSG00000256806 chr17 6651718 6693202 + C17orf100 protein_coding 388327 11 19 9 21 23 33 18 17 11 ENSG00000256810 chr12 131030570 131035487 - AC078925.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256811 chr12 121856259 121857059 + AC079360.1 antisense 0 2 3 0 0 0 3 4 2 ENSG00000256812 chr16 55566672 55567687 + CAPNS2 protein_coding 84290 GO:0005886, GO:0005829, plasma membrane, cytosol, GO:0005515, GO:0005509, GO:0004198, protein binding, calcium ion binding, calcium-dependent cysteine-type endopeptidase activity, GO:0022617, GO:0006508, extracellular matrix disassembly, proteolysis, 5 5 3 23 29 19 9 9 10 ENSG00000256813 chr11 60841806 60851081 - AP000777.3 antisense 1 2 2 5 0 2 1 4 0 ENSG00000256814 chr12 125150058 125151394 + AC122688.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256817 chr12 9155881 9156372 - TPT1P12 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000256824 chr11 64035970 64103653 + AP000721.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256825 chr12 133130984 133202369 + AC026786.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256826 chr17 64491523 64491789 + ATP5MFP4 processed_pseudogene 1 1 4 0 2 0 0 0 1 ENSG00000256827 chr12 124005871 124006225 - AC068790.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000256835 chr12 67978107 67978387 - AC005294.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256837 chr12 2018213 2020532 + CACNA1C-IT1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000256843 chr12 31748100 31748240 - AC023157.2 processed_pseudogene 1 2 2 60 54 79 34 36 33 ENSG00000256844 chr12 19107854 19108183 - MEF2BNBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256847 chr11 63243085 63244004 + CCND2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256849 chr12 19941521 19943018 + TCP1P3 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000256851 chr6 31515979 31516211 + AL663061.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256852 chr12 24583561 24584549 + KNOP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256861 chr12 122207779 122266423 - AC048338.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256862 chr12 3871584 3910338 + AC005842.1 antisense 105369609 4 1 1 26 16 12 16 11 34 ENSG00000256863 chr11 63237957 63239114 - AP001880.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256870 chr12 101155493 101210407 - SLC5A8 protein_coding SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]. 160728 GO:0070062, GO:0016324, GO:0016021, GO:0005886, extracellular exosome, apical plasma membrane, integral component of membrane, plasma membrane, GO:0140161, GO:0022803, GO:0015552, GO:0015293, GO:0015129, GO:0008028, GO:0005343, monocarboxylate:sodium symporter activity, passive transmembrane transporter activity, propionate transmembrane transporter activity, symporter activity, lactate transmembrane transporter activity, monocarboxylic acid transmembrane transporter activity, organic acid:sodium symporter activity, GO:0035873, GO:0034356, GO:0015913, GO:0015730, GO:0006915, GO:0006814, GO:0006811, lactate transmembrane transport, NAD biosynthesis via nicotinamide riboside salvage pathway, short-chain fatty acid import, propanoate transport, apoptotic process, sodium ion transport, ion transport, 0 0 0 0 0 0 0 0 0 ENSG00000256875 chr12 132462242 132462856 + AC079031.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256879 chr12 20361732 20370262 - AC129102.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256884 chr12 119174065 119176484 - AC084880.4 antisense 105370024 0 0 0 0 0 0 0 0 0 ENSG00000256888 chr12 10750234 10777444 + LINC02366 lincRNA 101928162 0 0 0 0 0 0 0 0 0 ENSG00000256892 chr10 37601440 37602974 - MTRNR2L7 protein_coding 100288485 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0048019, receptor antagonist activity, GO:2000272, GO:1900118, negative regulation of signaling receptor activity, negative regulation of execution phase of apoptosis, 0 0 0 0 0 0 0 0 0 ENSG00000256894 chr12 26125155 26126617 - AC022509.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256896 chr12 17383352 17384647 - PSMC1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256897 chr11 47220218 47221751 - AC018410.2 antisense 0 0 3 0 1 0 0 0 0 ENSG00000256898 chr11 73921665 73922196 - AP002770.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256902 chr12 2752597 2753132 - IQSEC3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256904 chr12 8819816 8820713 - A2ML1-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256906 chr12 130070325 130072685 + LINC02419 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256912 chr12 9817350 9818025 - AC007068.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256913 chr12 6477714 6480207 + AC005840.3 processed_pseudogene 2 8 6 23 26 30 25 12 31 ENSG00000256915 chr12 65644334 65663299 + AC090023.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256916 chr11 102606916 102628070 + AP000851.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256917 chr12 68487687 68487863 + AC008033.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256922 chr12 127793527 127821183 - AC087894.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256923 chr12 22742582 22743091 + AC084819.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256925 chr10 133083073 133088491 - ADGRA1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256928 chr11 73395559 73396436 - AP000763.4 antisense 2334 2114 3057 4150 3632 5027 5797 3868 4864 ENSG00000256937 chr12 9127783 9128645 + KRT17P8 processed_pseudogene 6 3 2 13 0 9 10 2 0 ENSG00000256940 chr11 64245964 64248217 + AP001453.2 antisense 1 2 0 1 0 5 2 1 2 ENSG00000256943 chr12 132275391 132278329 + AC148477.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256944 chr11 60913166 60914052 - AP003721.3 antisense 0 0 0 2 1 3 0 0 0 ENSG00000256947 chr11 114210616 114356571 - AP002518.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000256948 chr12 106524 111850 - AC026369.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000256950 chr12 121888809 121921470 + AC069503.2 protein_coding 1 0 0 0 0 0 0 1 0 ENSG00000256951 chr15 28789199 28789486 + AC055876.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256955 chr12 131857420 131864538 + AC131009.2 lincRNA 0 1 2 0 0 0 0 1 0 ENSG00000256963 chr12 121079842 121080124 + AC079602.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256966 chr9 37512547 37592469 - AL513165.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000256967 chr12 7129079 7131198 - AC018653.3 antisense 62 45 127 41 59 104 37 37 76 ENSG00000256968 chr9 6748703 6748981 - SNRPEP2 processed_pseudogene 0 0 0 0 1 0 0 0 1 ENSG00000256969 chr12 4020977 4026658 + AC007207.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256971 chr12 127940595 127950160 - LINC00508 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256972 chr11 115333577 115340262 + AP000462.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256973 chr12 22460519 22463914 - AC053513.1 lincRNA 5 11 7 4 0 6 14 2 3 ENSG00000256975 chr12 9506347 9508440 - AC092821.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256977 chr2 109898428 109924868 + LIMS3 protein_coding 96626 GO:0005737, cytoplasm, GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000256980 chr6 73223544 73225770 - KHDC1L protein_coding 100129128 GO:0005737, cytoplasm, GO:0003723, RNA binding, GO:0006919, activation of cysteine-type endopeptidase activity involved in apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000256981 chr12 11158785 11159694 - AC134349.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256982 chr16 89046172 89052965 - AC135782.1 lincRNA 0 1 3 2 0 10 0 2 0 ENSG00000256984 chr12 31012503 31015806 + AC008013.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256986 chr12 34162477 34163442 + AC140847.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000256987 chr12 31953889 31955268 + AC023050.4 processed_pseudogene 19 13 27 5 3 2 6 1 0 ENSG00000256988 chr12 4806542 4808641 - AC005833.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256994 chr12 17509353 17589992 - LINC02378 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000256995 chr12 22699859 23174125 + AC084816.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257000 chr12 132077803 132080460 - AC137590.1 antisense 20 34 31 21 21 23 34 27 20 ENSG00000257002 chr11 62909546 62918361 + AP000438.1 antisense 0 0 0 0 0 2 3 1 0 ENSG00000257004 chr12 12668982 12685075 + AC008115.2 lincRNA 2 2 0 0 2 0 1 0 0 ENSG00000257005 chr12 63651627 63651930 + AC027667.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257008 chr17 74367407 74372622 + GPR142 protein_coding GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]. 350383 GO:0030054, GO:0016021, GO:0005886, GO:0005829, cell junction, integral component of membrane, plasma membrane, cytosol, GO:0004930, G protein-coupled receptor activity, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000257009 chr12 25585994 25592928 - AC022367.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000257012 chr11 95040411 95041571 + AP002383.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257016 chr12 10551266 10551535 - SLC25A39P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257017 chr16 72054592 72061055 + HP protein_coding This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. 3240 GO:1904724, GO:0072562, GO:0072562, GO:0071682, GO:0070062, GO:0035580, GO:0031838, GO:0005615, GO:0005615, GO:0005615, GO:0005576, GO:0005576, tertiary granule lumen, blood microparticle, blood microparticle, endocytic vesicle lumen, extracellular exosome, specific granule lumen, haptoglobin-hemoglobin complex, extracellular space, extracellular space, extracellular space, extracellular region, extracellular region, GO:0030492, GO:0016209, GO:0005515, GO:0004252, hemoglobin binding, antioxidant activity, protein binding, serine-type endopeptidase activity, GO:2000296, GO:0098869, GO:0051354, GO:0043312, GO:0042742, GO:0042542, GO:0031638, GO:0010942, GO:0010942, GO:0006953, GO:0006952, GO:0006898, GO:0002526, negative regulation of hydrogen peroxide catabolic process, cellular oxidant detoxification, negative regulation of oxidoreductase activity, neutrophil degranulation, defense response to bacterium, response to hydrogen peroxide, zymogen activation, positive regulation of cell death, positive regulation of cell death, acute-phase response, defense response, receptor-mediated endocytosis, acute inflammatory response, 5 11 27 0 17 14 1 7 5 ENSG00000257021 chr12 126912034 126912322 + HSPE1P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257022 chr12 21827210 21887957 + AC008250.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257023 chr12 22609228 22625015 - AC087241.3 antisense 0 0 0 2 0 3 0 3 3 ENSG00000257025 chr12 128399978 128404814 + AC023595.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000257027 chr12 9658567 9662085 + AC010186.3 sense_intronic 45 42 98 45 40 118 89 38 90 ENSG00000257035 chr12 127624153 127626267 + AC025252.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257037 chr12 27496937 27498589 + RARSP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257038 chr11 73307235 73309361 - AP002761.3 antisense 0 3 4 1 1 4 0 4 0 ENSG00000257042 chr12 27958517 27969813 + AC008011.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257043 chr11 18665050 18665548 + AP006296.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257045 chr2 199325310 199329362 + AC016746.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257046 chr12 20815674 21090245 + AC011604.2 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring SLCO1B3 (solute carrier organic anion transporter family member 1B3) and SLCO1B7 (solute carrier organic anion transporter family member 1B7 (putative)) genes on chromosome 12. The readthrough transcript encodes a protein that shares sequence identity with both the upstream and downstream genes. [provided by RefSeq, Jun 2019]. 115072896 0 0 0 0 0 0 0 0 0 ENSG00000257048 chr12 3367833 3371346 + LINC02417 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257052 chr11 60906789 60909742 + AP003721.4 antisense 4 4 1 0 4 5 0 4 1 ENSG00000257053 chr12 121149010 121149109 + Z98941.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257056 chr14 28783491 28785787 - LINC02282 lincRNA 105370424 0 0 0 0 0 0 0 0 0 ENSG00000257057 chr11 94512432 94532123 + C11orf97 protein_coding 643037 GO:0097546, GO:0036064, GO:0005737, ciliary base, ciliary basal body, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000257058 chr11 62545999 62547699 + AP001363.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257060 chr15 93312557 93569483 + AC091078.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000257062 chr12 21047179 21176895 + AC022335.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257065 chr6 143807092 143844617 + AL049844.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257067 chr11 115932774 115942995 + AP000797.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257069 chr11 64291722 64304769 + KCNK4-TEX40 processed_transcript This locus represents naturally occurring readthrough transcription between the neighboring KCNK4 (potassium channel subfamily K member 4) and the downstream TEX40 (testis expressed 40) chromosome 11. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Nov 2015]. 106780802 0 0 0 0 0 0 0 0 0 ENSG00000257070 chr11 113769660 113769994 + AP003170.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257074 chr19 34296277 34296592 - RPL29P33 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000257075 chr11 72131282 72131907 + RPEP6 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000257078 chr12 7041156 7041641 - AC006512.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257083 chr12 67035508 67096406 - AC073530.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257084 chr12 6963246 6964447 + MIR200CHG lincRNA 105369635 4 3 0 6 9 11 10 6 6 ENSG00000257086 chr11 64246939 64249494 - AP001453.3 lincRNA 0 2 0 0 1 5 2 0 1 ENSG00000257087 chr11 115538869 115539384 - AP003174.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257093 chr7 141656728 141702153 - KIAA1147 protein_coding 57189 GO:0005737, cytoplasm, GO:0005085, guanyl-nucleotide exchange factor activity, 2 1 2 3 0 16 2 1 0 ENSG00000257094 chr12 32007127 32007435 + AC016957.1 processed_pseudogene 7 14 8 19 8 18 11 8 9 ENSG00000257095 chr12 119031039 119116961 - AC084361.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257096 chr14 21521083 21522660 + AL161747.2 antisense 0 0 0 2 0 0 0 0 0 ENSG00000257097 chr12 122395542 122400857 + CLIP1-AS1 lincRNA 1 4 2 4 1 15 9 10 9 ENSG00000257101 chr11 113791466 113791752 + LRRC37A13P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257103 chr19 34172504 34229515 + LSM14A protein_coding Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]. 26065 GO:1990124, GO:0072686, GO:0036464, GO:0010494, GO:0005829, GO:0005737, GO:0000932, GO:0000932, messenger ribonucleoprotein complex, mitotic spindle, cytoplasmic ribonucleoprotein granule, cytoplasmic stress granule, cytosol, cytoplasm, P-body, P-body, GO:0005515, GO:0003729, GO:0003727, GO:0003725, GO:0003723, GO:0003690, protein binding, mRNA binding, single-stranded RNA binding, double-stranded RNA binding, RNA binding, double-stranded DNA binding, GO:0090307, GO:0060340, GO:0039529, GO:0034063, GO:0033962, GO:0033962, GO:0033962, GO:0017148, GO:0007275, mitotic spindle assembly, positive regulation of type I interferon-mediated signaling pathway, RIG-I signaling pathway, stress granule assembly, P-body assembly, P-body assembly, P-body assembly, negative regulation of translation, multicellular organism development, 26 57 393 9 86 53 5 93 46 ENSG00000257105 chr12 8987175 8996566 - AC006581.1 antisense 0 0 0 0 0 1 0 0 0 ENSG00000257108 chr16 566996 569495 + NHLRC4 protein_coding 283948 GO:0061630, GO:0005515, ubiquitin protein ligase activity, protein binding, GO:0070936, protein K48-linked ubiquitination, 3 2 0 1 3 0 3 0 8 ENSG00000257109 chr15 101875964 101876901 + OR4F28P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257113 chr12 74274952 74275231 + AC090502.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257114 chr12 42692216 42717119 + LINC02450 lincRNA 105369739 0 0 0 0 0 0 0 0 0 ENSG00000257115 chr14 18601045 18602129 + OR11H12 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 440153 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000257119 chr12 106901283 106901984 - EEF1B2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257120 chr14 29652809 29657916 + AL356756.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257121 chr12 95100531 95101045 + AC126615.2 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000257122 chr16 22418672 22437715 - RRN3P3 transcribed_unprocessed_pseudogene 42 31 42 49 26 64 41 25 62 ENSG00000257124 chr12 83661009 83661719 - AC093025.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257125 chr12 52751978 52753821 - KRT127P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257126 chr14 28729083 28765277 - FOXG1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257127 chr12 92421531 92431002 + CLLU1 processed_transcript Expression of this gene has been shown to be upregulated in some individuals with chronic lymphocytic leukemia (CLL), and has been used for prognostic and diagnostic purposes. This gene was originally identified as a human-specific putative protein-coding gene due to the presence of a peptide (PAp00140670, HIIYSTFLSK) that could have supported translation at this locus. This peptide is not present in more recent builds of PeptideAtlas, and the presence of a protein product at this locus has not been independently verified. For this reason, this gene is being represented as non-coding. Sequence comparisons to other primates indicates that no other primate is predicted to contain an open reading frame. [provided by RefSeq, Feb 2017]. 574028 GO:0005737, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000257128 chr12 41911256 41912212 + AC006197.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257129 chr12 107910403 107912620 - AC126177.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257135 chr2 10448694 10451327 + AC007249.2 lincRNA 1 0 0 2 0 6 0 1 3 ENSG00000257137 chr12 52205556 52213583 - C12orf80 lincRNA 0 0 0 0 0 0 0 0 3 ENSG00000257138 chr7 141972631 141973773 - TAS2R38 protein_coding This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 2009]. 5726 GO:0016021, GO:0016021, GO:0005886, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, plasma membrane, GO:0033038, GO:0033038, GO:0004930, bitter taste receptor activity, bitter taste receptor activity, G protein-coupled receptor activity, GO:0007186, GO:0001580, GO:0001580, G protein-coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of bitter taste, detection of chemical stimulus involved in sensory perception of bitter taste, 0 0 0 0 0 0 0 0 0 ENSG00000257139 chr12 70180338 70202004 + AC084032.1 lincRNA 0 0 2 0 0 0 1 0 0 ENSG00000257141 chr12 107832858 107835030 - AC126177.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257142 chr14 19700479 19700650 - AL512310.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257146 chr12 59719698 59719944 - AC079905.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257150 chr12 95551582 95673999 + PGAM1P5 transcribed_processed_pseudogene 100132594 0 0 1 5 0 0 0 0 0 ENSG00000257151 chr15 25031873 25036490 + PWAR6 lincRNA 7 12 10 26 1 27 12 2 8 ENSG00000257155 chr14 31558507 31561334 - AL163973.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257156 chr12 89048187 89309553 - AC024909.1 lincRNA 6 3 3 3 0 3 1 0 0 ENSG00000257157 chr12 97679879 97680047 - AC018659.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257159 chr12 57967058 57968399 + AC084033.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257162 chr14 19485336 19489148 + MED15P6 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257164 chr12 42646583 42686701 + LINC02451 lincRNA 105369738 0 0 0 0 0 0 0 0 0 ENSG00000257165 chr12 78448995 78540675 - AC079362.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257167 chr12 98512973 98516422 - TMPO-AS1 antisense 100128191 19 17 30 48 15 67 61 31 55 ENSG00000257169 chr12 96386818 96387194 - AC125612.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000257171 chr14 18395626 18412264 - CR383658.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257173 chr12 38078529 38078999 - AK6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257175 chr14 18634955 18637208 - CR383656.1 processed_pseudogene 1 0 0 0 3 2 0 0 3 ENSG00000257176 chr12 29280418 29317848 - AC009318.1 antisense 100506606 131 102 128 51 73 101 79 54 109 ENSG00000257178 chr17 48579630 48582259 - AC103702.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000257179 chr14 25267064 25267336 - HMGN2P6 processed_pseudogene 0 0 0 0 0 0 0 3 0 ENSG00000257180 chr16 6056975 6092954 + AC009135.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000257181 chr12 68841288 68843237 - AC025423.4 antisense 318 395 414 336 638 481 389 403 450 ENSG00000257183 chr12 74248637 74283669 - AC090502.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257184 chr7 27163535 27180013 - AC004080.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257185 chr14 26809417 26836458 + LINC02293 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257191 chr12 78960258 79045644 - AC090709.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257193 chr12 104170395 104177659 + LINC02385 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257194 chr12 90107739 90112779 + AC126178.1 lincRNA 0 2 0 0 0 0 1 2 0 ENSG00000257195 chr12 92883773 92884700 + HNRNPA1P50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257198 chr9 34832295 34838586 - FAM205BP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257199 chr12 76984079 76984669 - AC025161.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257202 chr12 101923410 101924719 - AC084398.2 antisense 17 3 10 13 10 3 4 8 4 ENSG00000257207 chr2 110402934 110473075 - AC112229.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257210 chr12 93124063 93124543 - NACAP8 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000257218 chr12 120446438 120463749 + GATC protein_coding 283459 GO:0030956, GO:0030956, GO:0005739, GO:0005739, glutamyl-tRNA(Gln) amidotransferase complex, glutamyl-tRNA(Gln) amidotransferase complex, mitochondrion, mitochondrion, GO:0050567, GO:0050567, GO:0005524, GO:0005515, glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity, glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity, ATP binding, protein binding, GO:0070681, GO:0070681, GO:0032543, GO:0032543, GO:0006450, glutaminyl-tRNAGln biosynthesis via transamidation, glutaminyl-tRNAGln biosynthesis via transamidation, mitochondrial translation, mitochondrial translation, regulation of translational fidelity, 354 344 571 244 404 467 251 289 331 ENSG00000257219 chr12 76259839 76305131 + LINC02407 lincRNA 105369848 0 0 0 0 0 0 0 0 0 ENSG00000257220 chr12 78130337 78131004 - FAM213AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257221 chr12 108628687 108641318 + AC007569.1 antisense 6 15 8 4 10 8 5 14 6 ENSG00000257222 chr12 102063355 102074820 + AC079907.1 antisense 0 1 1 3 1 1 3 0 0 ENSG00000257224 chr14 18702281 18702463 - CR383656.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257225 chr12 42459366 42466128 + AC079601.1 antisense 1 0 0 4 1 0 2 0 0 ENSG00000257226 chr2 143766620 143776073 - AC079584.2 antisense 10 5 3 16 18 6 21 8 22 ENSG00000257228 chr12 41409467 41473510 - AC090531.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257230 chr12 59523278 59524184 - LINC02448 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257231 chr12 113789542 113789807 - DYNLL1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257235 chr12 63004338 63006541 - AC078814.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257237 chr12 39058028 39059933 - AC018448.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257239 chr12 41829898 41932592 - AC090630.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257241 chr12 69946543 69947081 - AC078922.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257242 chr12 91984976 92142914 - LINC01619 processed_transcript 256021 3 12 12 13 18 33 10 19 9 ENSG00000257243 chr12 49595148 49595688 + AC020612.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257246 chr12 51124628 51125381 - PHBP19 processed_pseudogene 0 0 3 2 0 6 1 3 5 ENSG00000257252 chr12 93317135 93377736 - AC124947.1 antisense 0 0 0 0 1 0 0 0 0 ENSG00000257253 chr12 49861207 49865802 + AC131157.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257254 chr12 102513251 102513655 - AC010202.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257256 chr12 50219604 50229984 + AC008147.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257258 chr12 29143196 29148675 - AC012150.1 lincRNA 4 2 1 0 1 6 1 5 7 ENSG00000257259 chr12 58565959 58781747 - LINC02388 lincRNA 101927653 0 0 0 0 0 0 0 0 0 ENSG00000257261 chr12 46383679 46876159 + AC008014.1 lincRNA 6 5 9 2 2 0 6 14 4 ENSG00000257262 chr12 30200983 30217916 + AC023511.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257264 chr16 14901499 14902174 + AC136443.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257265 chr12 71007773 71032083 - AC123905.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257267 chr18 35290282 35328390 + ZNF271P transcribed_unitary_pseudogene Zinc finger proteins interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Apr 2004]. 10778 216 125 180 111 122 105 122 85 75 ENSG00000257268 chr12 110831779 110845963 + AC002375.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257270 chr14 105467793 105470617 - AL928654.2 antisense 7 1 13 12 28 20 20 16 25 ENSG00000257271 chr11 126543947 126610948 + KIRREL3-AS1 antisense 0 2 0 0 1 0 0 0 0 ENSG00000257272 chr14 35873857 35875303 + AL162311.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257275 chr14 95711747 95757656 + AL139020.1 antisense 0 6 0 4 5 0 3 4 2 ENSG00000257277 chr2 143676165 143741294 - AC092652.2 antisense 6 17 21 4 30 16 18 18 14 ENSG00000257279 chr12 116977442 116987337 - AC127164.1 antisense 100506551 2 9 2 1 10 3 0 6 0 ENSG00000257281 chr12 108281103 108282235 - AC009729.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257283 chr12 93894965 93943603 - AC012464.1 antisense 105369911 0 1 1 2 3 2 1 0 0 ENSG00000257284 chr2 143162078 143172172 - AC013437.1 antisense 12 14 18 29 35 66 30 31 59 ENSG00000257285 chr14 22929609 22955562 + AL132780.1 antisense 101926933 115 93 120 73 103 135 74 80 83 ENSG00000257286 chr12 113185624 113192161 - AC089999.1 antisense 0 1 2 5 0 5 3 2 0 ENSG00000257287 chr12 72431722 72432075 - AC016256.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257288 chr12 59052980 59054184 - AC068305.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257289 chr12 68913804 68914022 + AC025423.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257292 chr12 38205098 38206009 - AC117372.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257294 chr12 60092864 60096071 + AC080011.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257296 chr12 84671598 84672026 + AC093027.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257298 chr12 50185580 50191363 - AC008147.2 sense_intronic 0 0 0 0 0 4 0 1 0 ENSG00000257300 chr12 114097682 114098223 + HAUS8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257302 chr12 70671918 70672856 + FAHD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257303 chr12 56300142 56314808 + AC073896.2 antisense 40 39 49 57 37 79 38 15 39 ENSG00000257307 chr14 35881001 35881709 + AL162311.2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000257308 chr12 61231159 61232937 - AC090017.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257310 chr14 19244962 19247673 + AL589743.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257315 chr1 203795714 203854999 + ZBED6 protein_coding The protein encoded by this transposon-derived intronless gene is a transcriptional repressor that binds to the consensus sequence 5'-GCTCGC-3'. The encoded protein has been shown to repress IGF2 transcription. This gene is located within the first intron of the ZC3H11A gene. [provided by RefSeq, Jul 2016]. 100381270 GO:0005737, GO:0005737, GO:0005730, GO:0005634, GO:0005634, GO:0005634, GO:0000785, cytoplasm, cytoplasm, nucleolus, nucleus, nucleus, nucleus, chromatin, GO:0046983, GO:0046872, GO:0003677, GO:0000981, protein dimerization activity, metal ion binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0060548, GO:0051148, GO:0045892, GO:0045787, GO:0006357, GO:0001835, GO:0000122, negative regulation of cell death, negative regulation of muscle cell differentiation, negative regulation of transcription, DNA-templated, positive regulation of cell cycle, regulation of transcription by RNA polymerase II, blastocyst hatching, negative regulation of transcription by RNA polymerase II, 21 18 34 6 9 1 12 9 10 ENSG00000257316 chr12 32985838 32987070 + AC087311.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257319 chr12 45050901 45103107 + AC008127.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257322 chr12 93003415 93215679 - AC138123.1 antisense 4 5 6 3 4 0 2 1 0 ENSG00000257323 chr12 74656561 74656860 + AC123904.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257325 chr12 100852331 100859262 - AC138360.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257327 chr12 103841451 103844664 + AC012555.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000257329 chr12 75964440 75967062 + AC011611.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257331 chr12 45063473 45065351 - RACGAP1P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257332 chr12 63271404 63272336 + HNRNPA1P69 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257335 chr7 141907813 142106747 + MGAM protein_coding This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]. 8972 GO:0101003, GO:0070821, GO:0070062, GO:0016324, GO:0016021, GO:0005886, ficolin-1-rich granule membrane, tertiary granule membrane, extracellular exosome, apical plasma membrane, integral component of membrane, plasma membrane, GO:0032450, GO:0030246, GO:0016160, GO:0005515, GO:0004558, GO:0004553, GO:0004339, GO:0003824, maltose alpha-glucosidase activity, carbohydrate binding, amylase activity, protein binding, alpha-1,4-glucosidase activity, hydrolase activity, hydrolyzing O-glycosyl compounds, glucan 1,4-alpha-glucosidase activity, catalytic activity, GO:0044245, GO:0043312, GO:0005983, GO:0000023, polysaccharide digestion, neutrophil degranulation, starch catabolic process, maltose metabolic process, 2753 1857 2757 336 482 373 598 490 384 ENSG00000257336 chr12 68957377 68957677 - PRELID2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257337 chr12 53014596 53054438 - AC068888.1 antisense 283335 513 506 628 662 411 736 549 342 452 ENSG00000257341 chr14 105487199 105492267 + AL928654.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257342 chr12 57694132 57721510 - AC025165.2 antisense 963 1053 1177 689 1022 815 773 879 790 ENSG00000257343 chr12 52746596 52748308 - AC055716.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257345 chr12 92999218 93019820 + LINC02413 lincRNA 3 0 2 1 3 0 2 1 0 ENSG00000257346 chr12 49090208 49093312 + AC011603.1 antisense 0 0 1 1 0 0 0 1 0 ENSG00000257350 chr12 55122668 55124120 - AC027287.1 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000257354 chr12 62602752 62622213 + AC048341.1 lincRNA 27 34 40 43 48 42 73 36 32 ENSG00000257355 chr19 12017888 12052967 - AC008770.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257356 chr14 18418775 18419273 + BNIP3P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257359 chr12 113932569 113937255 + AC073863.1 antisense 4 4 1 1 1 11 3 3 8 ENSG00000257360 chr12 94140077 94141337 + AC123567.1 processed_pseudogene 0 0 1 0 0 0 1 0 4 ENSG00000257364 chr12 74292324 74293096 + VENTXP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257365 chr14 64986720 65062652 + FNTB protein_coding 2342 GO:0005965, GO:0005965, GO:0005875, GO:0005829, protein farnesyltransferase complex, protein farnesyltransferase complex, microtubule associated complex, cytosol, GO:0008270, GO:0005515, GO:0004660, GO:0004660, GO:0004660, zinc ion binding, protein binding, protein farnesyltransferase activity, protein farnesyltransferase activity, protein farnesyltransferase activity, GO:0022400, GO:0018343, GO:0018343, GO:0018342, regulation of rhodopsin mediated signaling pathway, protein farnesylation, protein farnesylation, protein prenylation, 31 42 48 42 50 33 62 33 18 ENSG00000257366 chr16 16308542 16310000 - AC138969.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257368 chr12 45444766 45445438 + AC063924.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257373 chr12 42979254 42996486 - AC012038.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257376 chr12 42431665 42433357 - AC079601.2 processed_pseudogene 0 1 5 1 5 0 5 0 1 ENSG00000257378 chr12 49954639 49956125 - AC025154.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257379 chr12 53441741 53467528 + AC023509.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000257381 chr16 16300159 16300242 + MIR3179-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422886 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000257384 chr12 55732366 55732648 - AC009779.1 processed_pseudogene 0 0 0 3 1 0 6 0 2 ENSG00000257386 chr12 74538145 74538633 - AC025257.1 antisense 44 54 77 56 26 57 49 17 60 ENSG00000257389 chr12 52837403 52837739 + AC107016.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257390 chr12 55757275 55827546 - AC023055.1 protein_coding 71 37 85 28 50 44 18 34 23 ENSG00000257391 chr16 15154903 15157020 + AC126763.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257392 chr12 107887730 107889886 + AC126177.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257395 chr14 19681420 19684739 + AL512310.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257398 chr12 107839291 107864562 - AC126177.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257400 chr12 94491546 94496442 - AC023161.1 lincRNA 0 6 1 0 1 0 0 0 0 ENSG00000257402 chr12 52715567 52721655 - KRT126P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257403 chr16 21347139 21352138 + AC008740.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000257404 chr12 52782650 52782839 + AC107016.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257405 chr12 42636815 42637111 - AC079600.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257407 chr12 115582061 115639734 - AC009803.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257408 chr16 21938865 21944987 + AC092375.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257410 chr12 71793855 71799627 - AC089984.1 lincRNA 6 28 20 12 22 41 15 8 27 ENSG00000257411 chr12 56101331 56109289 + AC034102.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257414 chr12 55396340 55396697 + OR6C73P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257415 chr12 103503381 103504936 + AC084364.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257426 chr12 107899638 107899815 + AC126177.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257429 chr12 80583683 80593701 - AC074031.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257431 chr12 82512677 82515817 + AC089998.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257432 chr14 19629006 19630340 + AL512310.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257433 chr12 47706085 47742294 + AC004241.1 antisense 78 78 81 47 49 41 37 60 52 ENSG00000257434 chr12 75020969 75044793 + AC073525.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257435 chr12 32988763 32993754 + AC087311.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257438 chr12 106103163 106106165 + AC011595.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257443 chr12 58920639 59064238 + AC068305.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257444 chr12 107271394 107271846 + SETP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257446 chr19 12043805 12052939 - ZNF878 protein_coding 729747 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 1 0 4 3 4 1 1 ENSG00000257449 chr12 56029649 56041806 - AC034102.3 antisense 1 0 0 0 0 0 0 0 2 ENSG00000257452 chr12 112907628 113017751 - AC004551.1 antisense 7 4 17 11 14 16 5 2 13 ENSG00000257453 chr12 76030494 76031378 + AC011611.3 antisense 6 5 35 71 12 75 96 43 98 ENSG00000257454 chr12 71034122 71104526 - AC025575.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257456 chr12 29519731 29529974 + AC009320.1 antisense 0 1 0 0 0 0 1 0 0 ENSG00000257458 chr12 98931682 98976656 + AC069437.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257464 chr12 49442424 49442652 - AC125611.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257465 chr12 117245551 117246164 - ELOCP32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257467 chr12 81270675 81312422 + PPFIA2-AS1 lincRNA 102724663 0 0 0 0 0 0 0 0 0 ENSG00000257470 chr12 97024021 97051129 + AC013417.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257472 chr14 31925801 31930146 - AL355112.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257474 chr12 79540203 79550535 + AC027288.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257475 chr12 53012104 53013921 + AC068888.2 sense_intronic 2 4 2 3 8 9 3 8 6 ENSG00000257476 chr12 114238970 114241770 - LINC02459 lincRNA 105369996 0 0 0 0 0 0 0 0 0 ENSG00000257477 chr12 54428303 54429403 + LINC01154 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257480 chr12 89752913 89753831 + MRPL2P1 processed_pseudogene 3 0 0 0 0 0 0 0 0 ENSG00000257488 chr12 47826854 47837898 + LINC02354 lincRNA 0 1 1 0 0 1 0 2 0 ENSG00000257489 chr12 100173196 100199783 - AC010203.1 transcribed_unprocessed_pseudogene 0 1 5 0 4 3 7 4 6 ENSG00000257493 chr14 19664098 19683677 - AL512310.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257494 chr12 112256800 112259091 + AC004217.1 antisense 7 7 1 1 11 9 3 3 9 ENSG00000257495 chr12 52601467 52615305 + KRT73-AS1 antisense 100127967 3 9 7 1 3 3 9 1 0 ENSG00000257496 chr12 46384233 46386991 - AC025031.1 lincRNA 2 0 1 5 4 3 5 6 0 ENSG00000257497 chr12 75483454 75489820 - AC121761.1 antisense 15 15 26 11 9 29 10 4 7 ENSG00000257500 chr12 52407580 52428494 + AC055736.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257501 chr12 97713412 97761859 - AC007424.1 transcribed_processed_pseudogene 643711 0 0 0 0 0 0 0 0 0 ENSG00000257503 chr14 26208036 26208424 + CYB5AP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257504 chr14 18630318 18633634 - LINC02297 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257506 chr16 29478879 29482591 + AC133555.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257507 chr12 69449470 69460724 + LINC02373 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000257509 chr12 55761550 55762628 - AC073487.1 sense_intronic 8 7 3 10 7 13 9 6 6 ENSG00000257510 chr12 42615503 42646498 - LINC02402 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257511 chr12 32726383 32727387 - AC084824.1 processed_pseudogene 2 6 4 11 2 7 3 3 15 ENSG00000257512 chr12 93314809 93315941 + AC124947.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257513 chr18 11619509 11639699 - NPIPB1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000257514 chr12 101646720 101659970 - AC117505.1 antisense 0 0 3 0 0 4 0 0 0 ENSG00000257515 chr12 71709171 71710374 - AC011601.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257517 chr12 114768674 114771851 + AC026765.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257519 chr12 115263170 115270596 + AC078880.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257520 chr14 36473207 36519521 - AL132857.1 processed_transcript 253970 GO:0045334, GO:0042599, GO:0005789, GO:0005737, GO:0005615, GO:0005576, clathrin-coated endocytic vesicle, lamellar body, endoplasmic reticulum membrane, cytoplasm, extracellular space, extracellular region, GO:0044267, GO:0042060, cellular protein metabolic process, wound healing, 0 0 0 0 0 0 0 0 0 ENSG00000257522 chr14 29264381 29381295 - AL133166.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000257523 chr14 28875404 29064993 - LINC02326 lincRNA 105370425 0 0 0 0 0 0 0 0 0 ENSG00000257524 chr9 127867850 127906022 - AL157935.2 protein_coding 2 0 4 2 0 0 7 5 1 ENSG00000257526 chr12 76562294 76615567 + AC107032.2 lincRNA 0 0 0 0 2 0 0 0 1 ENSG00000257527 chr16 18411309 18411851 - AC126755.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257528 chr12 61879318 61880772 + KRT8P19 processed_pseudogene 3 0 0 1 0 0 0 0 0 ENSG00000257529 chrX 101391011 101412297 + RPL36A-HNRNPH2 protein_coding This locus represents naturally occurring read-through transcription between the neighboring ribosomal protein L36a and heterogeneous nuclear ribonucleoprotein H2 (H') genes on chromosome X. The read-through transcript produces a protein with similarity to the protein encoded by the upstream locus, ribosomal protein L36a. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2011]. 100529097 0 0 0 0 0 0 0 0 0 ENSG00000257530 chr12 32104117 32107528 - AC048344.1 antisense 2 1 3 2 3 0 0 7 2 ENSG00000257531 chr12 50217662 50218343 - AC008147.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257534 chr12 54162065 54164452 - AC023794.4 lincRNA 1 8 0 0 4 0 2 3 1 ENSG00000257539 chr12 111381867 111385638 + HSPA8P14 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000257541 chr12 58087892 58093362 + LINC02403 lincRNA 105369785 0 0 0 0 0 0 0 0 0 ENSG00000257542 chr12 52084744 52108261 + OR7E47P transcribed_unprocessed_pseudogene 26628 0 0 0 0 0 0 0 0 0 ENSG00000257543 chr12 101408372 101409060 - AC063948.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257545 chr12 106495958 106774918 - AC079385.1 antisense 100287944 4 3 12 9 0 12 11 3 4 ENSG00000257548 chr12 107093298 107123314 + AC078929.1 antisense 26 13 36 17 16 18 28 14 9 ENSG00000257550 chr12 53513984 53517608 + AC023509.2 antisense 100652999 87 99 102 48 130 130 65 76 67 ENSG00000257551 chr1 220832763 220880140 - HLX-AS1 antisense 100873924 59 56 80 8 32 15 20 33 24 ENSG00000257553 chr12 56104614 56113905 - AC034102.4 antisense 28 14 31 41 31 23 43 41 55 ENSG00000257556 chr14 105093609 105099004 + LINC02298 lincRNA 0 1 1 0 0 0 0 0 0 ENSG00000257557 chr12 79934901 79942712 + PPP1R12A-AS1 bidirectional_promoter_lncRNA 173 168 222 78 67 85 94 86 107 ENSG00000257558 chr14 18667249 18667370 + CR383656.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257563 chr16 18402146 18403604 + AC126755.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257564 chr12 78793526 78794114 - AC068993.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257568 chr12 62482349 62484932 - AC079035.1 antisense 3 1 3 0 3 3 4 1 10 ENSG00000257569 chr12 55900300 55900618 + GSTP1P1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000257570 chr12 49709237 49709336 + AC020612.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257572 chr12 45071769 45072843 + AC008127.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257576 chr12 56511002 56512703 + HSPD1P4 processed_pseudogene 0 1 0 8 0 2 0 1 0 ENSG00000257579 chr12 107610034 107617721 - AC007540.1 antisense 12 9 13 2 8 4 1 4 2 ENSG00000257580 chr12 98317741 98318349 + AC008055.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257582 chr10 99526350 99531177 - LINC01475 lincRNA 101927324 0 0 0 0 0 0 0 0 0 ENSG00000257585 chr14 36070427 36165288 + LINC00609 lincRNA 101101773 0 0 0 0 0 0 0 0 0 ENSG00000257586 chr12 38994803 38996882 - AC018448.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257587 chr12 73906940 73919337 + AC136188.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257588 chr12 49951512 49962924 - AC025154.2 antisense 101927318 0 0 0 0 0 0 0 0 0 ENSG00000257591 chr19 12142090 12156729 - ZNF625 protein_coding 90589 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000257594 chr12 89519408 89524806 - GALNT4 protein_coding This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]. 8693 GO:0070062, GO:0048471, GO:0016021, GO:0005794, GO:0000139, extracellular exosome, perinuclear region of cytoplasm, integral component of membrane, Golgi apparatus, Golgi membrane, GO:0030246, GO:0030145, GO:0005515, GO:0004653, carbohydrate binding, manganese ion binding, protein binding, polypeptide N-acetylgalactosaminyltransferase activity, GO:0018243, GO:0018242, GO:0016266, protein O-linked glycosylation via threonine, protein O-linked glycosylation via serine, O-glycan processing, 22 11 21 5 5 6 2 10 9 ENSG00000257595 chr12 111369282 111403310 + LINC02356 lincRNA 105369984 0 0 1 0 0 0 3 0 0 ENSG00000257596 chr12 54262615 54279063 + AC078778.1 antisense 112935960 0 0 1 0 0 9 6 2 9 ENSG00000257599 chr12 29389289 29487488 + OVCH1-AS1 antisense 101055625 22 2 48 4 1 10 10 2 8 ENSG00000257603 chr12 114077133 114079902 + AC010183.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257604 chr12 79500119 79500687 - AC027288.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257605 chr12 53298655 53300314 - AC073611.1 antisense 24 26 32 17 30 36 32 11 31 ENSG00000257607 chr7 1055360 1059261 - AC073957.2 antisense 7 14 42 3 1 0 2 5 3 ENSG00000257609 chr12 81868368 81869046 + AC091515.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257611 chr12 106170004 106172437 + AC010182.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257612 chr14 26873133 26914743 + MIR4307HG lincRNA 101927081 0 0 0 0 0 0 0 0 0 ENSG00000257613 chr12 70219132 70221862 - LINC01481 lincRNA 1 1 0 2 2 0 2 2 5 ENSG00000257614 chr14 35947556 35950044 - AL133304.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257616 chr12 52730425 52732865 + AC055716.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257621 chr14 58265365 58298134 - PSMA3-AS1 antisense 379025 2150 2222 2582 1960 2749 2429 2238 1837 2256 ENSG00000257622 chr14 105152194 105181194 - AL512356.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000257624 chr12 112000739 112000985 - AC004024.1 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000257629 chr12 89027757 89028522 + AC006199.1 processed_pseudogene 1 2 1 1 0 0 2 0 3 ENSG00000257634 chr12 54682973 54687434 + AC079310.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257635 chr14 18698639 18699978 - CR383656.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257636 chr14 30437992 30573629 - G2E3-AS1 antisense 0 1 2 0 2 0 0 2 0 ENSG00000257639 chr16 21532945 21550373 - AC005632.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257640 chr2 143295586 143572105 - AC096558.2 antisense 3 5 6 3 10 9 11 3 5 ENSG00000257642 chr12 105304867 105327017 - KCCAT198 antisense 105369954 0 0 1 0 0 6 0 0 0 ENSG00000257643 chr12 32692504 32692848 - AC084824.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257644 chr14 18631388 18650966 + CR383656.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257645 chr12 38532895 38533050 - AC087897.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257647 chr15 25027736 25032047 - AC124312.2 lincRNA 0 3 4 4 1 1 5 0 0 ENSG00000257648 chr12 87750142 87750313 + CYCSP30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257649 chr12 52229093 52229588 - METTL7AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257653 chr12 48766194 48767323 + AC117498.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257654 chr12 116698336 116703130 + AC125603.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257657 chr12 45481871 45610620 - AC079950.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257658 chr12 112321759 112323089 + AC004217.2 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000257660 chr12 48789147 48790535 + AC117498.2 lincRNA 100506125 0 0 0 0 0 0 0 0 0 ENSG00000257662 chr14 28593779 28593919 + EIF4A1P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257663 chr12 52076841 52082084 - AC025259.1 antisense 8 6 21 18 9 34 17 17 18 ENSG00000257664 chr12 63055275 63055765 - RSL24D1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257666 chr12 95286318 95286838 - CBX3P5 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000257668 chr12 57983795 57984761 - AC084033.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257671 chr12 52245048 52247448 - KRT7-AS antisense 109729127 0 0 0 0 0 0 0 0 0 ENSG00000257672 chr14 18614388 18614561 + CR383656.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257674 chr12 42286911 42288560 + AC020629.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000257675 chr12 52748776 52750127 + BTBD10P1 processed_pseudogene 1 0 2 0 0 1 0 4 0 ENSG00000257677 chr12 77219603 77228693 - LINC02464 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257680 chr12 40728811 40729897 + AC016144.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257681 chr12 103746315 103768858 - AC025265.1 antisense 2 2 3 0 2 5 2 4 0 ENSG00000257682 chr12 73203815 73206835 - AC090503.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257683 chr12 115810359 115886137 - LINC02463 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257687 chr12 42627008 42627137 - AC079600.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257691 chr16 29475064 29475355 + AC133555.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000257696 chr12 100143058 100144671 + AC010203.2 antisense 9 1 6 6 0 12 1 0 2 ENSG00000257698 chr12 57931528 57936175 - AC084033.3 lincRNA 14 12 16 10 12 3 7 18 12 ENSG00000257700 chr12 52692605 52696788 + AC055716.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257702 chr2 74502595 74504678 + LBX2-AS1 antisense 3 3 8 2 2 23 17 5 4 ENSG00000257703 chr12 103080950 103178675 - AC068643.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257704 chr19 47274453 47275707 + INAFM1 protein_coding 255783 GO:0016021, integral component of membrane, GO:0005246, calcium channel regulator activity, 308 337 195 209 345 215 207 243 189 ENSG00000257711 chr12 106680758 106684700 - AC079385.2 antisense 100505978 0 0 0 0 0 0 0 0 0 ENSG00000257715 chr12 96025323 96027971 + AC007298.1 antisense 105 131 120 65 113 95 90 103 57 ENSG00000257718 chr12 38906451 38909592 + CPNE8-AS1 antisense 0 0 0 0 2 0 0 2 0 ENSG00000257720 chr14 36054197 36055313 - ILF2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257721 chr14 18560047 18560191 + CR383656.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257723 chr12 72610678 72611316 + CHCHD3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257725 chr12 89947693 89949726 + LINC02399 lincRNA 105369891 0 0 0 0 0 0 0 0 0 ENSG00000257726 chr12 115363012 115364745 + AC078880.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257727 chr12 56309842 56316336 - CNPY2 protein_coding 10330 GO:0005783, endoplasmic reticulum, GO:0005515, protein binding, GO:0010988, GO:0010629, regulation of low-density lipoprotein particle clearance, negative regulation of gene expression, 7 2 16 16 4 18 0 7 17 ENSG00000257729 chr12 84154434 84294562 + AC090679.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257730 chr12 49770960 49771136 + LSM6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257731 chr14 18645044 18646221 - CR383656.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257732 chr12 104262314 104280722 - AC089983.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257735 chr12 48350945 48442411 + AC090115.1 antisense 2 0 1 0 0 10 2 1 8 ENSG00000257737 chr12 103654780 103657995 - AC025265.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257738 chr12 45200817 45201551 + AC009248.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257740 chr12 56308868 56309449 + AC073896.3 antisense 0 0 2 0 0 0 0 1 0 ENSG00000257741 chr12 80763154 80770717 + LINC01490 lincRNA 101928420 0 0 0 0 0 2 0 0 0 ENSG00000257743 chr7 142111749 142222324 + MGAM2 protein_coding 93432 0 0 0 0 0 0 0 0 0 ENSG00000257746 chr12 93090522 93107600 + AC138123.2 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000257747 chr12 81953719 81993133 + LINC02426 lincRNA 101928449 0 0 0 0 0 0 0 0 0 ENSG00000257748 chr14 28800084 28830204 - LINC02281 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257750 chr12 73760689 73798727 + LINC02445 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257751 chr14 19668542 19669056 - AL512310.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257752 chr12 88057876 88058578 - AC091516.1 processed_pseudogene 0 0 1 0 0 0 2 0 0 ENSG00000257754 chr12 103819610 103822085 + AC012555.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257756 chr12 30230779 30296707 - LINC02386 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257757 chr12 55342841 55343774 + OR6C7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257758 chr12 104976749 104978027 - KRT18P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257759 chr14 70425812 70547464 - AL357153.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257761 chr12 71582293 71583852 - AC078860.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000257762 chr12 103547794 103559815 + LINC02401 lincRNA 101929084 0 0 0 0 0 0 0 0 0 ENSG00000257763 chr12 48355792 48356614 - OR5BK1P unprocessed_pseudogene 0 0 8 0 0 0 3 1 3 ENSG00000257764 chr12 69353493 69354225 - AC020656.1 antisense 2769 1924 1132 984 1920 731 1255 1537 744 ENSG00000257766 chr12 103668575 103669406 - AC025265.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257767 chr12 111753890 111791418 + AC002996.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257769 chr16 15608474 15610563 + AC026401.1 antisense 0 1 0 3 2 9 0 1 0 ENSG00000257771 chr12 49911953 49930320 + LINC02395 lincRNA 101927292 0 0 0 0 0 0 0 0 0 ENSG00000257773 chr12 106015897 106017006 + ST13P3 processed_pseudogene 1 5 4 4 0 2 0 2 0 ENSG00000257777 chr12 75600047 75601551 + AC022507.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257779 chr12 63002469 63002795 + AC078814.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257780 chr12 54608187 54610462 - GLYCAM1 transcribed_unitary_pseudogene 644076 GO:0005886, plasma membrane, GO:0050776, regulation of immune response, 0 0 0 0 0 0 0 0 0 ENSG00000257781 chr12 115755262 115799936 + AC009387.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257784 chr12 41764189 41765581 + LINC02400 lincRNA 101927038 0 0 0 0 0 0 0 0 0 ENSG00000257786 chr12 80561017 80561560 - AKIRIN1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257787 chr12 90809276 90810680 + AC112481.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257790 chr12 53153272 53154484 + EIF4A1P4 processed_pseudogene 0 1 5 0 0 0 0 0 0 ENSG00000257792 chr12 48394510 48395392 - OR5BJ1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257797 chr15 42006132 42010117 + AC039056.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257800 chr2 74120680 74123218 + FNBP1P1 processed_pseudogene 2 16 12 16 4 17 18 11 10 ENSG00000257802 chr12 71849228 71850428 - AC089984.2 processed_pseudogene 0 6 0 43 68 37 21 16 13 ENSG00000257803 chr12 100578744 100580197 + AC010200.1 processed_pseudogene 0 0 0 1 0 2 0 0 0 ENSG00000257807 chr12 47484689 47485722 + AC003686.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257808 chr12 53159586 53161000 + AC073573.1 lincRNA 227 225 290 578 462 629 517 348 498 ENSG00000257809 chr12 56150796 56158220 - AC034102.5 antisense 0 5 2 0 9 15 15 4 5 ENSG00000257813 chr12 43569769 43572038 - AC090525.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257815 chr12 69904033 70243360 - LINC01481 antisense 101928062 42 56 61 22 57 47 42 37 74 ENSG00000257817 chr12 114713811 114767957 + AC026765.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257818 chr12 69284397 69285485 + C1GALT1P1 processed_pseudogene 0 0 0 0 1 1 0 0 1 ENSG00000257820 chr12 89319364 89319649 + MRPS6P4 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000257823 chr12 75305452 75306357 + AC092552.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257824 chr12 54543111 54544105 - AC068789.1 antisense 63 94 89 54 77 50 71 60 105 ENSG00000257825 chr14 18588274 18588315 - CR383656.9 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257826 chr14 36061026 36067190 - AL133304.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257829 chr12 52306616 52308371 - AC121757.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257830 chr12 52274647 52279156 - AC021066.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257831 chr14 31248628 31302739 + AL136418.1 antisense 31 26 51 33 38 45 39 21 20 ENSG00000257835 chr12 77379820 77390864 + AC073591.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257837 chr12 82505211 82506188 - AC089998.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257838 chr16 22545698 22576865 + OTOAP1 transcribed_unprocessed_pseudogene 653786 0 3 2 0 3 1 0 1 1 ENSG00000257839 chr12 76032658 76033897 + AC011611.4 antisense 0 0 0 1 0 1 0 0 0 ENSG00000257842 chr14 26598412 26806467 + LINC02588 antisense 102725045 0 0 0 0 0 0 0 0 0 ENSG00000257844 chr12 52411742 52421867 - KRT90P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257845 chr14 26775495 26822107 - LINC02294 lincRNA 101927062 0 0 0 0 0 0 0 0 0 ENSG00000257846 chr14 19668829 19670003 + AL512310.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257847 chr12 94590821 94591093 + LSM3P2 processed_pseudogene 3 3 9 3 13 9 0 1 7 ENSG00000257848 chr12 48171590 48173353 + AC074029.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257849 chr12 42966122 42967353 + AC012038.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257851 chr12 51712469 51713606 - HNRNPA3P10 processed_pseudogene 3 6 3 5 5 6 1 1 2 ENSG00000257852 chr12 32072734 32072880 + AC048344.2 processed_pseudogene 0 0 0 2 0 0 1 0 0 ENSG00000257853 chr14 18912805 18916642 - MED15P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257855 chr12 85567878 85568239 + AC126471.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257858 chr12 41699391 41700251 - MTND1P24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257859 chr12 105704203 105744062 + CASC18 lincRNA 101929110 0 0 0 0 0 0 0 0 0 ENSG00000257860 chr12 103151842 103168309 + AC068643.2 lincRNA 101929058 0 0 0 0 0 0 0 0 0 ENSG00000257863 chr12 91901458 91906187 + AC090049.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257864 chr12 44248432 44249004 - AC025030.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257865 chr12 60418983 60419293 + AC090022.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257869 chr14 28318141 28418612 + AL139023.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257870 chr12 55009746 55014247 + AC027287.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257872 chr12 76137425 76138610 + AC233290.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257875 chr12 82468456 82468948 + AC089998.3 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000257878 chr12 95996521 96011489 + AC007298.2 antisense 499 830 636 346 975 591 497 699 458 ENSG00000257879 chr12 78426826 78442952 - AC130415.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257880 chr12 62139999 62145643 - AC078789.1 sense_intronic 6 4 3 5 0 0 1 2 1 ENSG00000257883 chr12 116661582 116698065 + AC125603.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257884 chr14 19677837 19680104 + AL512310.7 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257885 chr12 48168847 48169659 - PHBP18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257890 chr12 106050961 106058254 - AC011595.2 lincRNA 0 0 0 0 0 4 0 0 0 ENSG00000257891 chr14 18920109 18934078 + AL929601.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257893 chr12 91877391 91880655 + LINC02404 lincRNA 105369900 0 0 1 2 0 0 0 0 2 ENSG00000257894 chr12 79341205 79503396 - AC027288.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257896 chr12 43736628 43741067 + AC093012.1 transcribed_unprocessed_pseudogene 10 3 3 4 7 2 9 4 9 ENSG00000257897 chr12 86015697 86016441 + AC139697.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257900 chr14 45377268 45389286 + AL162632.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257904 chr14 29940745 29980212 + AL133372.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257905 chr12 47593208 47593440 + AC004486.1 processed_pseudogene 1 2 0 0 4 7 0 2 0 ENSG00000257906 chr12 47377683 47420179 + LINC02156 lincRNA 1 0 1 0 0 0 1 0 0 ENSG00000257907 chr12 43659827 43661101 + EEF1A1P17 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000257910 chr12 76878193 76880352 + AC124784.1 antisense 0 0 0 0 0 0 0 3 0 ENSG00000257912 chr12 87795733 87802028 + LINC02258 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257913 chr12 48998367 49019235 + DDN-AS1 antisense 105369758 95 66 78 124 154 148 100 151 135 ENSG00000257915 chr12 114104542 114105931 + GLULP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257918 chr12 106714924 106733066 - AC079385.3 antisense 0 0 0 0 0 0 1 0 0 ENSG00000257920 chr12 97272692 97276209 - LINC02409 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257921 chr12 57773028 57787046 + AC025165.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000257923 chr7 101815904 102283958 + CUX1 protein_coding The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]. 1523 GO:0005829, GO:0005794, GO:0005654, GO:0005634, GO:0005634, GO:0000785, cytosol, Golgi apparatus, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0043565, GO:0030674, GO:0000981, GO:0000981, GO:0000977, GO:0000977, sequence-specific double-stranded DNA binding, sequence-specific DNA binding, protein-macromolecule adaptor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0050775, GO:0007275, GO:0006357, GO:0006357, GO:0000301, positive regulation of dendrite morphogenesis, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, retrograde transport, vesicle recycling within Golgi, 922 985 1395 381 630 690 488 532 549 ENSG00000257924 chr12 47353754 47369935 + LINC02416 lincRNA 0 0 0 0 0 0 6 0 0 ENSG00000257925 chr12 47237734 47279021 - AC008083.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257927 chr12 43054089 43054386 - MRPS36P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257932 chr12 30320834 30321617 + AC078776.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257935 chr12 113472003 113480624 + LHX5-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257940 chr12 87816486 87817831 + AC079598.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257941 chr12 76057538 76058115 + AC011611.5 processed_pseudogene 2 0 1 3 5 6 1 2 6 ENSG00000257943 chr12 95311312 95442482 - AC084879.1 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257947 chr12 44244394 44263982 - AC025030.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000257948 chr12 78804348 78808499 + AC068993.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257949 chr17 75979220 76000586 + TEN1 protein_coding C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]. 100134934 GO:1990879, GO:1990879, GO:1990879, GO:0005654, GO:0005634, GO:0000781, CST complex, CST complex, CST complex, nucleoplasm, nucleus, chromosome, telomeric region, GO:0042162, GO:0042162, GO:0010521, GO:0005515, GO:0003697, telomeric DNA binding, telomeric DNA binding, telomerase inhibitor activity, protein binding, single-stranded DNA binding, GO:0051974, GO:0032211, GO:0032211, GO:0016233, negative regulation of telomerase activity, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, telomere capping, 0 2 0 1 2 0 0 0 0 ENSG00000257950 chr17 3663063 3696194 - P2RX5-TAX1BP3 protein_coding 64 37 67 38 36 32 35 52 23 ENSG00000257951 chr12 107880581 107883386 + AC126177.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257953 chr12 57837092 57842745 + AC083805.2 antisense 7 5 3 1 2 9 0 0 3 ENSG00000257954 chr12 49389516 49390162 + AC125611.2 processed_pseudogene 0 0 0 2 1 0 0 0 0 ENSG00000257955 chr12 48019771 48025382 - AC004801.3 lincRNA 1 0 0 4 2 0 2 1 1 ENSG00000257956 chr12 79558782 79559166 + NOP56P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257957 chr14 35765795 35767110 + QRSL1P3 processed_pseudogene 1 1 1 0 0 7 2 1 3 ENSG00000257958 chr12 115077325 115080153 + AC008125.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257959 chr14 18555677 18596310 - CR383656.10 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257962 chr8 85246295 85249848 - AC011773.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000257964 chr12 49576840 49577505 - AC020612.3 antisense 0 0 0 0 1 0 0 1 0 ENSG00000257966 chr12 55870048 55872602 - OLA1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257976 chr14 25431193 25432234 - AL079352.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257979 chr12 116169045 116169258 + SNRPGP18 processed_pseudogene 1 0 2 0 3 11 2 2 0 ENSG00000257985 chr12 48011304 48025469 + AC004801.4 antisense 0 0 0 3 1 0 2 1 1 ENSG00000257986 chr14 25647304 26143305 - LINC02306 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257987 chr12 48727435 48765786 + TEX49 protein_coding 255411 0 0 0 0 0 0 0 0 0 ENSG00000257989 chr12 52092485 52104297 - AC078864.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257991 chr12 71835034 71835396 - AC089984.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257994 chr12 103505411 103506174 - AC084364.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257995 chr12 90617759 90622822 - AC084365.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257997 chr12 114080381 114113489 + AC010183.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000257998 chr12 74728038 74728851 - AC123904.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000257999 chr12 105102472 105107179 - AC016257.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258001 chr12 57431116 57433935 + AC126614.1 lincRNA 1 0 0 24 39 13 15 17 22 ENSG00000258007 chr12 101038420 101039094 - AC063947.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258010 chr15 80433795 80445152 - AC016705.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258011 chr12 110429959 110430282 - HMGA1P3 processed_pseudogene 1 0 1 3 2 3 6 1 0 ENSG00000258012 chr12 92858079 92859273 + AC026111.1 processed_pseudogene 1 0 0 0 0 0 2 0 0 ENSG00000258013 chr4 84544304 84544519 - RPL3P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258016 chr12 53142053 53142327 + HIGD1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258017 chr12 49127782 49147869 + AC011603.2 antisense 852 993 1153 459 652 619 407 603 530 ENSG00000258018 chr12 116517858 116518820 + LINC02457 lincRNA 1 1 0 1 3 0 0 1 0 ENSG00000258021 chr12 51900565 51901336 + AC025259.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258024 chr12 48385417 48386265 - OR5BT1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258026 chr12 81094375 81125845 - AC078955.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258027 chr14 19492281 19501740 + NF1P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258028 chr14 28936889 29028763 + AL138974.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258033 chr12 101066734 101069232 + AC063947.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000258034 chr12 115961187 115962733 + AC012157.1 antisense 347 399 455 136 293 201 178 191 199 ENSG00000258035 chr12 94168006 94186044 - AC123567.2 antisense 4 7 12 0 12 12 3 1 2 ENSG00000258036 chr12 52729517 52736142 - KRT125P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258038 chr14 28830244 28968400 + LINC02327 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258039 chr12 99093359 99105011 + AC117377.1 antisense 101928937 0 0 0 0 0 0 0 0 0 ENSG00000258044 chr12 79823778 79825496 + AC073569.1 antisense 13 11 2 4 14 12 15 9 24 ENSG00000258045 chr12 55731264 55731531 - RF00017 misc_RNA 0 0 0 2 0 0 2 0 0 ENSG00000258048 chr12 79690144 79778451 + AC073569.2 lincRNA 0 2 1 17 8 8 11 5 5 ENSG00000258050 chr14 55196727 55199013 - AL139316.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258051 chr12 48160245 48160878 - AC074029.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258052 chr12 69801669 69855363 + AC025263.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258053 chr12 71047402 71118247 - AC025575.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258056 chr12 55729104 55730852 + AC009779.2 antisense 105369779 33 44 30 131 90 109 106 80 65 ENSG00000258057 chr12 49828542 49841143 + BCDIN3D-AS1 antisense 100286844 8 8 6 10 0 19 5 8 2 ENSG00000258064 chr12 71674204 71698968 + AC073612.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258065 chr14 28857384 28858701 - AL122126.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258066 chr12 77775783 77783576 + AC138331.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258068 chr12 42485353 42490019 - AC079600.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000258071 chr12 52763405 52763893 + ARL2BPP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258072 chr12 107903270 107903948 - AC126177.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258073 chr12 84939524 84939668 - AC128657.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258074 chr12 53131350 53131985 + VTI1BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258076 chr14 18645991 18646503 + CR383656.11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258077 chr12 75563202 75984015 - AC078923.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000258080 chr14 19688261 19691194 + ARHGAP42P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258081 chr14 26836728 27160420 + AL110292.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258082 chr1 234979647 234980804 - AL391832.3 lincRNA 78 56 192 15 16 51 23 15 46 ENSG00000258083 chr7 141916399 141920625 + OR9A4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 130075 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000258084 chr12 78352519 78483019 + AC128707.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258086 chr12 54353792 54466985 + AC079313.1 antisense 109 131 167 48 72 51 58 52 68 ENSG00000258088 chr12 75694010 75698816 - AC078820.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000258090 chr12 76757191 76757914 + AC093014.1 processed_pseudogene 0 0 1 0 0 3 0 0 0 ENSG00000258091 chr12 75926213 75926467 + AC011611.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258092 chr12 2797136 2803938 - AC005841.1 antisense 5 7 21 26 7 19 24 9 15 ENSG00000258096 chr12 46371463 46373778 + AC025031.2 antisense 1 6 2 4 18 5 15 3 10 ENSG00000258098 chr14 25124487 25126998 - LINC02286 lincRNA 105370414 0 0 0 0 0 0 0 0 0 ENSG00000258099 chr12 111599498 111600256 + ATXN2-AS antisense 102723619 0 1 2 3 0 0 2 0 0 ENSG00000258100 chr12 91362196 91368606 + AC025035.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258101 chr12 49232790 49264756 - AC010173.1 antisense 22 26 15 19 46 35 52 38 22 ENSG00000258102 chr12 116548105 116576448 + MAP1LC3B2 protein_coding 643246 GO:0043231, GO:0031410, GO:0012505, GO:0005874, GO:0005829, GO:0005776, GO:0000421, intracellular membrane-bounded organelle, cytoplasmic vesicle, endomembrane system, microtubule, cytosol, autophagosome, autophagosome membrane, GO:0031625, GO:0008017, ubiquitin protein ligase binding, microtubule binding, GO:0097352, GO:0016236, GO:0006995, GO:0000422, GO:0000045, autophagosome maturation, macroautophagy, cellular response to nitrogen starvation, autophagy of mitochondrion, autophagosome assembly, 216 199 207 252 292 261 256 229 187 ENSG00000258104 chr12 49619334 49619612 + HIGD1AP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258107 chr14 29390074 29436412 + AL158058.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258108 chr12 115569664 115581739 + AC009803.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258111 chr12 104514029 104514439 + AC079316.1 processed_pseudogene 3 0 1 1 0 1 0 0 1 ENSG00000258112 chr12 75257635 75258634 - CCNG2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258114 chr10 117425194 117490419 + AC005871.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258115 chr12 72046149 72057377 - AC090109.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258116 chr12 47341614 47342089 - PPIAP45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258117 chr12 63292625 63360037 - AC026116.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258118 chr12 30861921 30862179 + PPIAP44 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258119 chr12 38544177 38589812 - AC087897.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258120 chr12 52632866 52634456 - KRT128P unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000258121 chr12 48483287 48500961 - AC089987.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258122 chr16 66841433 66853448 - AC044802.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000258123 chr12 73159190 73208317 + LINC02444 lincRNA 101928137 0 0 0 0 0 0 0 0 0 ENSG00000258125 chr12 91680131 91680873 + AC025254.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258128 chr12 87782163 87784568 - MKRN9P transcribed_processed_pseudogene 1 1 0 1 0 0 0 0 0 ENSG00000258130 chr16 30204316 30209071 - AC106782.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 7 2 0 0 ENSG00000258131 chr12 96985656 97185609 + AC007656.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258133 chr12 58394596 58395138 + AC025578.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258134 chr12 32227410 32228154 - AC016954.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258135 chr12 49908882 49911863 - LINC02396 lincRNA 283332 0 0 0 0 0 0 0 0 0 ENSG00000258136 chr12 107736555 107759968 + AC007622.2 antisense 101929162 19 28 9 13 27 18 24 30 16 ENSG00000258137 chr12 54353661 54497688 + AC079313.2 antisense 102724050 0 0 0 0 0 0 0 0 0 ENSG00000258140 chr12 69212108 69224242 + AC127894.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258142 chr12 102230027 102230533 - AC093023.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258144 chr12 39087713 39092874 - LINC02406 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258148 chr12 91193709 91193942 + AC007115.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258150 chr16 29464967 29467833 - AC133555.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258153 chr12 101873316 101873623 - HSPE1P4 processed_pseudogene 0 0 0 8 5 3 14 7 7 ENSG00000258154 chr14 105112690 105112863 - AL512356.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258159 chr12 113015607 113016098 + IMMP1LP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258162 chr12 81378042 81472954 + AC069228.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258167 chr12 40395853 40443847 - AC107023.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000258168 chr12 70468080 70543040 + AC025569.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000258169 chr12 102809280 102824399 - LINC00485 lincRNA 283432 0 0 0 0 0 0 0 0 0 ENSG00000258170 chr12 82481118 82497560 - AC089998.4 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000258171 chr12 93174366 93181832 + LINC02412 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258172 chr12 94272150 94277195 - AC073655.1 antisense 2 1 6 6 14 7 12 2 15 ENSG00000258173 chr12 87753414 87753447 - AC079598.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258175 chr14 28592223 28613623 - LINC02300 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258177 chr12 96222797 96223973 - AC008149.1 antisense 10 11 16 7 4 9 6 8 7 ENSG00000258178 chr12 85958686 85960946 + AC016993.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258179 chr12 87820654 87820918 - AC079598.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258181 chr12 47248124 47257539 + AC008083.2 lincRNA 1 0 1 6 0 5 0 0 0 ENSG00000258183 chr12 90280894 90300340 + LINC02392 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258184 chr12 60215994 60216384 + AC087883.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258185 chr12 86599578 86838998 - AC010196.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258186 chr16 21519830 21520365 - SLC7A5P2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258193 chr12 81998632 81998962 + AC011602.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258196 chr14 31553358 31558498 - AL163973.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258197 chr20 21511447 21512309 + NKX2-2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258199 chr12 56162359 56190284 - AC073896.4 sense_overlapping 38 48 49 69 83 103 61 49 44 ENSG00000258202 chr12 30454919 30492302 + AC026371.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258203 chr12 48005277 48011227 - AC004801.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258204 chr12 98794485 98794964 + AC008126.1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000258205 chr12 87746567 87746683 + AC079598.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258206 chr12 85781892 85782444 - AC137768.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258210 chr12 110387463 110445548 - AC144548.1 processed_transcript 0 0 0 0 1 0 2 0 0 ENSG00000258212 chr12 44008620 44010143 - ZNF75BP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258214 chr12 59366218 59411171 - AC108721.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258215 chr12 80860955 80861508 - AC078886.1 processed_pseudogene 5 2 10 16 5 18 15 4 8 ENSG00000258216 chr12 89882665 89989289 + AC084200.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258220 chr12 78326680 78359746 - LINC02424 lincRNA 105369860 0 0 0 0 0 0 0 0 0 ENSG00000258223 chr7 142252143 142258058 - PRSS58 protein_coding This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]. 136541 GO:0030141, GO:0005576, secretory granule, extracellular region, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000258224 chr12 91871122 91871230 - AC090049.2 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000258225 chr12 78052181 78091737 - AC073571.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258227 chr7 141927357 141947007 - CLEC5A protein_coding This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008]. 23601 GO:0070821, GO:0035579, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005829, tertiary granule membrane, specific granule membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, cytosol, GO:0030246, GO:0001618, GO:0001618, carbohydrate binding, virus receptor activity, virus receptor activity, GO:0046718, GO:0045087, GO:0045087, GO:0045087, GO:0043312, GO:0043066, GO:0033033, GO:0030099, GO:0007165, GO:0006968, GO:0002076, GO:0001819, viral entry into host cell, innate immune response, innate immune response, innate immune response, neutrophil degranulation, negative regulation of apoptotic process, negative regulation of myeloid cell apoptotic process, myeloid cell differentiation, signal transduction, cellular defense response, osteoblast development, positive regulation of cytokine production, 34 32 71 9 22 14 14 29 19 ENSG00000258230 chr12 101773114 101773755 - AC063950.1 transcribed_processed_pseudogene 1 2 3 6 11 0 1 2 5 ENSG00000258231 chr12 58544124 58813060 + AC020637.1 lincRNA 100506869 0 0 0 0 0 0 0 0 0 ENSG00000258232 chr12 49265156 49273306 - AC125611.3 antisense 14 14 19 67 55 67 36 21 24 ENSG00000258233 chr14 18623852 18626787 - ARHGAP42P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258234 chr12 48231098 48284210 - AC024257.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000258235 chr12 72727923 72728844 - AC133480.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258239 chr12 41698495 41699182 - MTND2P17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258240 chr12 110951683 110957812 - AC002351.1 lincRNA 105369980 0 0 0 0 0 0 0 0 0 ENSG00000258244 chr12 114588194 114588802 + OSTF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258245 chr12 75688794 75689096 - RPL10P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258249 chr12 116599270 116603585 + AC125603.3 lincRNA 1 1 0 0 1 5 0 0 3 ENSG00000258251 chr12 96060024 96060375 - YPEL5P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258253 chr12 52380460 52402407 + AC078865.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258254 chr12 114621761 114622922 + AC010177.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258256 chr8 85222446 85245717 - AC011773.3 antisense 1 0 0 0 0 0 0 1 0 ENSG00000258260 chr12 56267793 56270104 - AC073896.5 antisense 4 3 3 13 4 9 10 3 0 ENSG00000258262 chr12 92530460 92531324 + AC063949.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258265 chr14 18944199 18945139 + AL929601.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258268 chr2 143518867 143598002 - AC079793.1 antisense 14 17 20 17 58 27 18 19 42 ENSG00000258271 chr12 93529560 93529989 - AC025260.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258272 chr12 96422326 96485442 - AC007513.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258273 chr12 48333755 48333901 - AC024257.2 unprocessed_pseudogene 4 5 3 0 7 0 3 5 0 ENSG00000258274 chr12 93707791 93737823 - AC012085.2 antisense 101928731 2 5 0 0 7 0 0 0 7 ENSG00000258275 chr14 25357764 25358689 + OR7K1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258278 chr12 38082046 38087392 + CLUHP8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258279 chr12 52164115 52223804 + LINC00592 lincRNA 283404 0 0 0 1 0 0 0 0 0 ENSG00000258280 chr12 115576676 115577615 + AC009803.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258282 chr14 28673241 28673727 - BTF3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258283 chr12 48995150 48996334 + AC011603.3 antisense 0 1 0 0 0 0 1 0 0 ENSG00000258284 chr12 49594091 49594258 + POLR2KP1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000258285 chr12 117099481 117142091 + TESC-AS1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000258288 chr12 101963901 101964340 + NENFP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258289 chr14 64914361 64944591 + CHURC1 protein_coding 91612 GO:0008270, GO:0005515, zinc ion binding, protein binding, GO:0045893, GO:0007275, positive regulation of transcription, DNA-templated, multicellular organism development, 1535 726 861 424 340 272 480 311 258 ENSG00000258290 chr12 89919437 89919776 - BRWD1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258292 chr12 95803097 95823307 + LINC02410 lincRNA 105369920 0 0 0 0 0 0 0 0 0 ENSG00000258294 chr12 73115957 73143858 - AC090503.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000258300 chr14 35819837 35820220 + NUTF2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258301 chr14 76781733 76786724 - VASH1-AS1 lincRNA 100506603 5 4 2 8 11 7 10 8 4 ENSG00000258302 chr12 89561129 89594878 + AC025034.1 antisense 159 213 204 107 180 127 82 86 67 ENSG00000258303 chr12 93836167 93838038 + AC012464.2 sense_intronic 4 1 1 0 0 9 1 1 0 ENSG00000258304 chr12 76115711 76116100 + AC233290.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258308 chr12 101954998 101962390 - AC079907.2 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000258311 chr12 55716036 55724703 + BLOC1S1-RDH5 protein_coding 5 20 22 22 32 29 19 27 33 ENSG00000258312 chr12 98113014 98292445 - AC016152.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258313 chr12 95387890 95388558 - AC084879.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258314 chr14 19024090 19055551 + AL589182.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258315 chr17 7014495 7017525 + C17orf49 protein_coding 124944 GO:0071339, GO:0071339, GO:0016589, GO:0016589, GO:0005829, GO:0005654, MLL1 complex, MLL1 complex, NURF complex, NURF complex, cytosol, nucleoplasm, GO:0042802, GO:0005515, GO:0003677, identical protein binding, protein binding, DNA binding, GO:0006325, chromatin organization, 40 29 60 225 342 503 173 122 300 ENSG00000258316 chr12 62234390 62235515 - KLF17P1 processed_pseudogene 0 1 0 2 0 0 0 2 0 ENSG00000258317 chr12 56120033 56129619 - AC034102.6 antisense 37 33 41 43 27 30 43 24 41 ENSG00000258320 chr12 74170445 74171830 + AC090502.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258323 chr12 112063909 112065755 + AC073575.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258324 chr14 19653623 19653742 - AL512310.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258325 chr12 2796877 2812902 - ITFG2-AS1 antisense 0 0 0 0 1 0 0 1 3 ENSG00000258331 chr12 43155315 43163110 + LINC02461 lincRNA 105369740 0 0 0 0 0 0 0 0 0 ENSG00000258332 chr12 74039086 74049981 + LINC02394 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258334 chr12 49292631 49324576 - AC125611.4 antisense 101927267 0 0 0 0 0 0 0 0 7 ENSG00000258336 chr12 61600067 61600843 - DUX4L52 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258337 chr12 116174502 116181295 - AC130895.1 sense_intronic 2 2 2 2 1 8 3 5 0 ENSG00000258338 chr12 83171590 83172740 + AC090680.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258342 chr14 35897982 36063743 + AL133304.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000258343 chr12 95795345 95858839 - AC090001.1 antisense 105369921 0 0 0 0 0 0 0 0 0 ENSG00000258344 chr12 54276631 54345083 + AC078778.2 sense_overlapping 0 1 2 0 1 0 5 0 0 ENSG00000258345 chr12 56118968 56119939 - AC034102.7 antisense 6 5 8 7 7 8 12 10 9 ENSG00000258346 chr12 116368764 116389471 + AC079384.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258350 chr14 30541776 30542188 - SYF2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258352 chr12 47135498 47138370 - AC119044.1 transcribed_processed_pseudogene 0 2 3 8 3 6 4 0 5 ENSG00000258354 chr16 14909887 14911345 - AC138932.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258355 chr12 106245613 106246956 - AC079174.1 sense_intronic 6 7 13 13 10 20 13 9 20 ENSG00000258357 chr12 94521090 94521869 - AC023161.2 processed_pseudogene 0 12 3 5 3 7 5 1 5 ENSG00000258358 chr12 84448625 84449878 - AC087888.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258359 chr12 111669852 111670362 - PCNPP1 processed_pseudogene 9 2 7 2 5 7 4 3 8 ENSG00000258360 chr12 38206231 38207192 - NF1P12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258364 chr14 18636043 18637421 + CR383656.12 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258365 chr12 94277758 94282844 - AC073655.2 antisense 9 8 22 13 30 22 32 26 41 ENSG00000258366 chr20 63657810 63696253 + RTEL1 protein_coding This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]. 51750 GO:0005654, GO:0005634, GO:0005634, GO:0005634, GO:0000781, nucleoplasm, nucleus, nucleus, nucleus, chromosome, telomeric region, GO:0070182, GO:0051539, GO:0046872, GO:0005524, GO:0005524, GO:0005515, GO:0003678, GO:0003678, GO:0003678, GO:0003677, DNA polymerase binding, 4 iron, 4 sulfur cluster binding, metal ion binding, ATP binding, ATP binding, protein binding, DNA helicase activity, DNA helicase activity, DNA helicase activity, DNA binding, GO:1904535, GO:1904506, GO:1904430, GO:1904430, GO:1904430, GO:1904430, GO:1904358, GO:1904355, GO:1902990, GO:0090657, GO:0090657, GO:0090657, GO:0045910, GO:0045910, GO:0043247, GO:0032508, GO:0032508, GO:0032206, GO:0031297, GO:0010569, GO:0010569, GO:0006281, GO:0000732, GO:0000732, GO:0000723, GO:0000723, positive regulation of telomeric loop disassembly, negative regulation of telomere maintenance in response to DNA damage, negative regulation of t-circle formation, negative regulation of t-circle formation, negative regulation of t-circle formation, negative regulation of t-circle formation, positive regulation of telomere maintenance via telomere lengthening, positive regulation of telomere capping, mitotic telomere maintenance via semi-conservative replication, telomeric loop disassembly, telomeric loop disassembly, telomeric loop disassembly, negative regulation of DNA recombination, negative regulation of DNA recombination, telomere maintenance in response to DNA damage, DNA duplex unwinding, DNA duplex unwinding, positive regulation of telomere maintenance, replication fork processing, regulation of double-strand break repair via homologous recombination, regulation of double-strand break repair via homologous recombination, DNA repair, strand displacement, strand displacement, telomere maintenance, telomere maintenance, 0 1 0 0 0 0 0 1 1 ENSG00000258367 chr14 18562928 18568790 + CR383656.13 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258368 chr12 37575587 37576384 + ZNF970P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258369 chr12 47463087 47463621 + ADI1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258373 chr12 111992996 111993875 + SLC25A3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258375 chr12 81545326 81546450 - AC079363.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258376 chr14 73242651 73245979 - AC004846.1 antisense 0 0 3 0 1 0 1 0 0 ENSG00000258377 chr14 49620815 49623480 - AL139099.1 antisense 142 108 221 98 101 117 106 53 82 ENSG00000258378 chr14 58398557 58427125 + AL139021.1 antisense 3 1 4 4 3 7 7 1 0 ENSG00000258379 chr14 97786565 97789256 - AL355097.1 lincRNA 3 0 0 0 0 0 0 0 0 ENSG00000258380 chr14 89399995 89409469 + AL356805.1 antisense 1 0 1 0 0 1 0 0 2 ENSG00000258381 chr14 48819360 48819593 + AL512360.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258383 chr14 99324799 99332015 - AL132819.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258384 chr15 90952239 90955225 - AC068831.1 antisense 20 23 28 35 39 24 27 30 11 ENSG00000258385 chr14 41296286 41298734 + AL391516.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258386 chr14 32006902 32018685 + AL352984.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258387 chr14 43592142 43592262 - AL358913.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258388 chr6 32153845 32171978 + PPT2-EGFL8 protein_coding 13 22 29 9 13 7 4 7 0 ENSG00000258390 chr14 95573562 95581956 + LINC02318 lincRNA 100506999 0 0 0 0 0 0 0 0 0 ENSG00000258392 chr14 46996454 46997174 + RPA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258393 chr14 97116355 97121501 + AL049833.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258394 chr14 42362983 42703655 + AL442163.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000258397 chr15 20073699 20074334 - BCAR1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258399 chr14 100836269 100947194 + AL117190.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258400 chr14 49707667 49708792 - AL591767.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258401 chr14 49373966 49374383 + AL512361.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258402 chr14 76280943 76310066 - AC016526.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258404 chr14 101634454 101731108 - LINC02320 lincRNA 0 0 4 2 0 3 0 0 0 ENSG00000258405 chr19 52453576 52512154 + ZNF578 protein_coding 147660 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 1 5 0 4 3 3 0 0 1 ENSG00000258406 chr14 43274824 43275697 + AL445383.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258407 chr14 88010787 88015611 - AL157955.1 antisense 636 434 1000 119 115 176 131 125 157 ENSG00000258408 chr14 73539221 73539781 - NT5CP2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258410 chr15 20128745 20147953 - AC087386.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258411 chr14 63762013 63762149 + AL161670.1 processed_pseudogene 1 4 0 1 1 0 6 0 6 ENSG00000258412 chr14 96210860 96214818 + AL355102.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000258413 chr14 55262767 55272075 - AL158801.2 lincRNA 3 9 4 35 54 53 19 24 76 ENSG00000258414 chr14 37564047 37579125 + AL121790.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258415 chr15 21344548 21345085 - AC060814.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258416 chr14 79893080 79974169 - AF123462.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258417 chr8 132024238 132085655 - AC100868.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258418 chr14 40386252 40386794 + AL352977.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258419 chr14 79199982 79201632 + AC022469.1 sense_intronic 105370586 0 0 0 0 0 0 0 0 0 ENSG00000258420 chr15 20775464 20775998 - AC012414.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258421 chr14 78059942 78060278 - FXNP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258422 chr14 70187123 70230187 + AL160191.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258423 chr14 51756996 51757988 + OR7E105P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258424 chr14 90402523 90405235 - AL512791.1 antisense 267 260 378 220 287 275 252 268 292 ENSG00000258425 chr14 74552181 74560048 + AC013451.1 lincRNA 6 1 3 0 0 3 0 0 0 ENSG00000258426 chr14 83018201 83039602 - AL162872.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258427 chr14 60397757 60398281 + RBM8B processed_pseudogene 2 5 2 4 2 1 1 0 5 ENSG00000258428 chr14 56633244 56648658 - AL161757.2 antisense 38 20 53 60 53 62 60 30 39 ENSG00000258429 chr16 69328621 69330595 - PDF protein_coding Protein synthesis proceeds after formylation of methionine by methionyl-tRNA formyl transferase (FMT) and transfer of the charged initiator f-met tRNA to the ribosome. In eubacteria and eukaryotic organelles the product of this gene, peptide deformylase (PDF), removes the formyl group from the initiating methionine of nascent peptides. In eubacteria, deformylation of nascent peptides is required for subsequent cleavage of initiating methionines by methionine aminopeptidase. The discovery that a natural inhibitor of PDF, actinonin, acts as an antimicrobial agent in some bacteria has spurred intensive research into the design of bacterial-specific PDF inhibitors. In human cells, only mitochondrial proteins have N-formylation of initiating methionines. Protein inhibitors of PDF or siRNAs of PDF block the growth of cancer cell lines but have no effect on normal cell growth. In humans, PDF function may therefore be restricted to rapidly growing cells. [provided by RefSeq, Nov 2008]. 64146 GO:0005739, GO:0005739, mitochondrion, mitochondrion, GO:0046872, GO:0042586, GO:0042586, metal ion binding, peptide deformylase activity, peptide deformylase activity, GO:0043686, GO:0031365, GO:0031365, GO:0018206, GO:0018206, GO:0008284, GO:0006412, co-translational protein modification, N-terminal protein amino acid modification, N-terminal protein amino acid modification, peptidyl-methionine modification, peptidyl-methionine modification, positive regulation of cell population proliferation, translation, 4 2 1 5 5 6 12 6 4 ENSG00000258430 chr14 104769349 104770271 + AL583722.2 antisense 672 590 809 439 664 576 558 562 567 ENSG00000258431 chr14 70858844 70859429 - AC004825.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258433 chr15 95034384 95035737 - AC087633.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258435 chr12 121391962 121399859 + AC048337.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258436 chr14 20590193 20590823 - RNASE12 protein_coding 493901 GO:0005576, extracellular region, GO:0004540, GO:0003676, ribonuclease activity, nucleic acid binding, GO:0090501, RNA phosphodiester bond hydrolysis, 0 0 0 0 0 0 0 0 0 ENSG00000258437 chr14 90675118 90676294 + AL139193.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258438 chr14 19733355 19734302 - OR11K2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258439 chr14 74658049 74658590 + AC007956.1 processed_pseudogene 25 33 36 23 52 23 41 36 40 ENSG00000258440 chr14 52155740 52156179 + AL118557.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258441 chr14 21200079 21206900 - LINC00641 processed_transcript 283624 335 284 434 524 549 929 593 372 771 ENSG00000258443 chr14 73517233 73520648 - AC005225.1 sense_intronic 1 1 0 4 0 0 5 0 0 ENSG00000258444 chr14 23415339 23415686 + AL132855.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258445 chr14 60779978 60780595 + AL132777.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258446 chr14 91419449 91419751 + AL133153.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258448 chr14 73068108 73068618 - AL442663.2 processed_pseudogene 2 0 4 1 0 0 1 2 0 ENSG00000258449 chr12 25096868 25100980 - AC023510.1 antisense 442 494 558 374 532 531 474 427 446 ENSG00000258450 chr14 49629291 49629890 - AL139099.2 sense_intronic 0 0 0 2 0 0 2 0 0 ENSG00000258451 chr14 20693480 20707120 - AL163636.1 antisense 1 0 1 0 2 0 0 1 0 ENSG00000258452 chr14 80822524 80822796 + AC022404.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258453 chr14 19712904 19714332 - OR11H2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 79334 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000258454 chr14 76235817 76263474 + AC016526.2 sense_overlapping 0 1 0 3 0 0 0 0 0 ENSG00000258455 chr14 55325834 55339501 - AL158801.3 antisense 0 1 0 0 0 1 0 1 1 ENSG00000258456 chr14 20524287 20525422 - PTCD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258457 chr14 22982698 22999078 + AL132780.2 antisense 26 23 23 22 34 22 21 25 15 ENSG00000258458 chr14 22701476 22766562 - AL160314.2 processed_transcript 0 1 0 0 0 3 0 0 0 ENSG00000258459 chr14 20305730 20306811 + AL356019.1 antisense 1 0 0 5 1 3 5 7 3 ENSG00000258460 chr14 101332516 101334331 - AL355096.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258461 chr15 42348103 42412317 + AC012651.1 protein_coding 5 4 12 5 8 10 12 5 7 ENSG00000258462 chr14 49681302 49681886 + AL591767.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258463 chr15 19899334 19899559 + AC138701.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258464 chr14 23729038 23729741 - AL160237.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000258465 chr1 160216800 160285130 - AL139011.2 protein_coding 0 0 0 0 0 0 0 0 3 ENSG00000258466 chr14 67659820 67690367 - AL049779.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258467 chr14 36533506 36534538 - PHKBP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258468 chr14 20179189 20180156 + OR11G1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258469 chr14 55298644 55299231 + CHMP4BP1 processed_pseudogene 9 18 11 161 199 223 197 111 153 ENSG00000258471 chr14 20995837 21014822 - AL161668.3 antisense 101929718 5 4 16 22 8 19 12 5 6 ENSG00000258472 chr17 28455752 28614197 - AC005726.1 protein_coding 23 37 43 35 56 65 30 33 76 ENSG00000258473 chr14 77048172 77086446 - AC007686.2 lincRNA 0 2 2 0 8 3 2 3 3 ENSG00000258474 chr14 31944853 31950382 + LINC02313 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258476 chr15 93863109 93878356 + LINC02207 lincRNA 186 114 222 19 39 85 41 60 75 ENSG00000258477 chr14 68421698 68422196 - PPIAP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258478 chr14 78744398 78753878 - AC009396.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258479 chr14 51333393 51365557 + LINC00640 lincRNA 1 2 0 4 10 0 1 0 8 ENSG00000258480 chr14 40387558 40389140 + AL352977.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258481 chr14 92253493 92263656 - AL133240.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258482 chr14 21950406 21950654 + TRAV15 TR_V_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000258483 chr15 98003081 98087384 + LINC02251 lincRNA 105371008 0 0 0 0 0 0 0 0 0 ENSG00000258484 chr15 68818221 68946811 + SPESP1 protein_coding The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]. 246777 GO:0001669, acrosomal vesicle, GO:0035036, GO:0009566, GO:0007342, GO:0007340, GO:0007275, sperm-egg recognition, fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, acrosome reaction, multicellular organism development, 16 6 19 11 2 10 9 1 15 ENSG00000258485 chr14 60919240 60920155 - SRMP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258487 chr14 44444747 44480618 - LINC02277 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258488 chr15 20516252 20520627 + AC023310.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258489 chr15 95463592 95493770 - AC027013.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258490 chr14 66969038 66969816 - AL049835.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258491 chr14 50704343 50705511 - ZFP64P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258493 chr14 34920865 34921006 + AL121603.1 processed_pseudogene 1 0 1 1 0 0 1 0 2 ENSG00000258494 chr15 20969282 20970215 - OR11J5P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258496 chr14 87251103 87251679 + AL352955.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258497 chr14 101257332 101278318 + AL359682.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258498 chr14 101552221 101560431 - DIO3OS lincRNA The mouse and human DIO3OS and DIO3 (MIM 601038) genes overlap and are transcribed in opposite directions. The mouse Dio3 gene is imprinted from the paternal allele during fetal development, suggesting that DIO3OS is a noncoding gene that may have a role in maintaining monoallelic expression of DIO3 (Hernandez et al., 2004 [PubMed 14962667]).[supplied by OMIM, Mar 2008]. 64150 0 0 0 2 0 0 0 0 0 ENSG00000258499 chr14 92905697 92907482 - LINC02287 lincRNA 101929002 0 0 0 1 0 1 0 0 0 ENSG00000258500 chr14 100480952 100481274 + AL845552.1 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000258501 chr14 81916231 81917888 + EIF3LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258502 chr14 66111581 66125847 + LINC02290 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000258503 chr14 53011971 53012267 + AL352979.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258504 chr14 100291117 100294656 + AL157871.1 lincRNA 48 215 39 57 244 30 62 191 33 ENSG00000258505 chr14 42608868 42609577 + AL442163.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258506 chr14 84951274 84951373 + AL163642.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258507 chr4 8858715 8860827 - AC116612.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000258509 chr14 44887434 44887741 - AL049870.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258510 chr14 77359423 77359916 + AC007954.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258511 chr14 98136074 98139242 + LINC02295 lincRNA 1 0 1 4 0 5 3 1 2 ENSG00000258512 chr14 101730437 101732522 + LINC00239 lincRNA 145200 3 2 17 1 12 42 8 17 36 ENSG00000258513 chr14 74192589 74192823 + AC006349.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258515 chr14 20451305 20451918 + AL355075.2 antisense 15 16 53 38 50 43 24 23 36 ENSG00000258516 chr14 95855548 95866464 - AL133167.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258517 chr14 71212633 71218216 + AC004817.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258519 chr14 58184576 58185507 + AL121579.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258520 chr14 69239166 69260567 - AL359317.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258521 chr14 100339832 100340554 + AL157871.2 antisense 15 7 14 24 20 38 12 16 9 ENSG00000258524 chr14 73571159 73571667 - NT5CP1 processed_pseudogene 0 0 1 2 0 4 0 0 0 ENSG00000258525 chr14 30876179 30889808 - AL049830.3 antisense 100506071 0 0 1 4 3 0 4 1 2 ENSG00000258526 chr14 39474840 39513780 + AL049875.1 lincRNA 0 2 0 0 4 0 5 0 0 ENSG00000258527 chr15 92795647 92796439 + ASB9P1 processed_pseudogene 11 11 7 0 2 6 7 1 12 ENSG00000258529 chr11 111786286 111879425 - AP001781.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258531 chr14 68936602 68936864 + BANF1P1 processed_pseudogene 0 1 1 2 3 0 3 3 2 ENSG00000258532 chr14 83906872 83915050 - LINC02305 lincRNA 102724338 0 0 0 0 0 0 0 0 0 ENSG00000258534 chr14 103854366 103880111 - AL132712.1 lincRNA 1 0 0 1 0 0 0 0 0 ENSG00000258535 chr14 51765276 51825422 + AL079307.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000258536 chr14 41742639 41742963 + FKBP1BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258537 chr14 51454512 51599952 - FRMD6-AS2 lincRNA 100874185 0 0 0 0 0 0 0 0 0 ENSG00000258538 chr14 88175391 88180198 + AL133279.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258539 chr10 124617080 124791727 - AC068896.1 protein_coding 17 35 12 44 65 65 41 56 50 ENSG00000258540 chr15 91676771 91677060 + AC107958.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258541 chr14 19905917 19906600 + OR4K4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258542 chr15 91029888 91029996 + AC068831.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258544 chr14 90107675 90107995 + GLRXP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258545 chrX 120036236 120146854 + RHOXF1-AS1 antisense 101928969 0 0 0 0 0 0 1 0 0 ENSG00000258546 chr12 25092715 25093900 - CENPUP2 processed_pseudogene 7 22 19 10 52 21 24 18 25 ENSG00000258548 chr14 27612588 27639636 + LINC00645 lincRNA 100505967 0 0 0 0 0 0 0 0 0 ENSG00000258549 chr14 83805496 83805640 - AL161713.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258550 chr14 51763056 51764076 - OR7E106P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258551 chr15 91408708 91605211 + CRAT37 lincRNA 101926928 2 2 2 6 0 2 2 1 1 ENSG00000258552 chr14 77173075 77173652 - FAM204DP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258553 chr14 59969116 60091783 - AL157911.1 antisense 0 0 0 12 0 5 0 2 2 ENSG00000258554 chr12 55966838 55967474 - AC025162.1 antisense 72 91 81 56 49 46 54 44 18 ENSG00000258555 chr22 24270898 24442356 + SPECC1L-ADORA2A protein_coding 0 0 0 0 0 2 4 0 0 ENSG00000258556 chr14 60323236 60323907 + LINC02322 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000258557 chr14 21962819 21963042 - AC245505.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258558 chr14 30734926 30822702 - AL121852.1 antisense 0 0 1 2 4 4 5 1 0 ENSG00000258559 chr14 74289127 74294425 - AC005519.1 sense_overlapping 6 6 6 5 6 12 4 14 8 ENSG00000258560 chr14 100052803 100074878 - AL157912.1 antisense 0 0 2 0 0 0 0 0 0 ENSG00000258561 chr14 66212810 66509394 - AL359232.1 lincRNA 0 0 1 0 0 7 0 2 0 ENSG00000258562 chr15 92762757 92763750 + AC106028.1 processed_pseudogene 0 0 1 0 0 3 1 0 1 ENSG00000258563 chr14 60179382 60180016 + PSMA3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258564 chr14 19796345 19797293 + OR4N1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258565 chr14 68867857 68869951 - BLZF2P unprocessed_pseudogene 8 3 6 8 3 9 13 5 1 ENSG00000258566 chr14 76690139 76690742 - AC007376.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258567 chrY 11306918 11308181 + DUX4L16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258568 chr14 49599994 49600572 + RHOQP1 processed_pseudogene 4 5 2 0 4 6 2 2 1 ENSG00000258569 chr14 76710658 76761388 - AC007376.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258570 chr15 94168349 94168751 + AC110027.1 processed_pseudogene 1 0 0 0 0 0 1 0 0 ENSG00000258571 chr14 71085482 71085833 - PTTG4P processed_pseudogene 16 24 15 15 19 20 20 11 14 ENSG00000258572 chr14 95516136 95517911 + AL133467.1 lincRNA 0 1 6 1 5 0 2 0 2 ENSG00000258573 chr14 20587644 20607137 + AL163195.2 antisense 254028 1 0 0 0 0 0 0 0 0 ENSG00000258576 chr14 100587775 100589326 - AL163974.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000258577 chr14 50571919 50572140 - SNRPGP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258578 chr14 76013679 76014143 + AC008015.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258580 chr14 32373337 32417974 - AL136298.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258581 chr14 100366628 100366920 + AL157871.3 processed_pseudogene 3 9 12 12 8 6 10 4 7 ENSG00000258583 chr14 58646631 59017532 + LINC01500 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258584 chr14 93904730 93927066 - FAM181A-AS1 antisense 283592 0 0 0 0 0 0 0 0 0 ENSG00000258585 chr15 21911559 21912590 - ZNF519P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258586 chr14 73822559 73830135 - LINC02274 lincRNA 100506498 0 0 0 0 0 0 0 0 0 ENSG00000258587 chr14 74873684 74874254 + AC006530.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258588 chr11 5596725 5644398 + TRIM6-TRIM34 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene represents a readthrough transcript from genes TRIM6 and TRIM34, and it was described as a splice variant of TRIM34. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. [provided by RefSeq, Nov 2009]. 445372 0 0 0 0 0 0 0 0 0 ENSG00000258590 chr15 20657638 20688408 - NBEAP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258591 chr14 39108342 39108707 + PPIAP4 processed_pseudogene 0 0 0 3 0 0 0 5 0 ENSG00000258592 chr14 57066260 57112660 - AL391152.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258593 chr14 104857792 104858836 - AL583810.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258594 chr15 27621534 27629289 + AC021979.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258595 chr14 93138066 93138465 + AL110118.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258597 chr14 94364313 94366698 - SERPINA2 polymorphic_pseudogene This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014]. 390502 GO:0005783, GO:0005615, endoplasmic reticulum, extracellular space, GO:0005515, GO:0004867, protein binding, serine-type endopeptidase inhibitor activity, GO:0010951, negative regulation of endopeptidase activity, 1 2 1 2 1 8 3 0 1 ENSG00000258598 chr14 104376530 104378951 - AL512357.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258599 chr14 20983155 20985066 - AL355922.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258600 chr14 83017106 83018144 - AL359238.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258601 chr14 36808871 36828729 + AL162464.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258602 chr14 76959638 76965802 + LINC01629 lincRNA 105370578 9 15 17 17 30 24 33 13 13 ENSG00000258603 chr14 73616700 73633941 - AC005225.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258604 chr14 21024172 21029271 + AL161668.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258605 chr14 81412970 81413239 + DYNLL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258608 chr14 45290036 45290386 + DNAJC19P9 processed_pseudogene 0 0 0 0 0 1 0 4 0 ENSG00000258609 chr18 57054558 57072119 - LINC-ROR lincRNA This gene produces a long non-coding RNA that regulates the reprogramming of pluripotent stem cells. This RNA suppresses induction of tumor protein p53 after DNA damage. It is thought to act as a sponge for microRNAs that regulate stem cell factors POU class 5 homeobox 1, Nanog, and SRY-box 2. This RNA may also have a extracellular role in modulating response to hypoxia in hepatocellular cancer cells. Expression of this transcript is associated with tumor progression and epithelial to mesenchymal transition and metastasis. [provided by RefSeq, Dec 2017]. 100885779 0 0 0 0 0 0 0 0 0 ENSG00000258610 chr14 76778952 76782249 + AF111169.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258611 chr15 93065586 93066606 - AC087641.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258613 chr14 65266638 65267690 - RPL21P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258615 chr14 95199039 95199345 + AL117187.1 unprocessed_pseudogene 0 0 1 0 6 0 0 1 0 ENSG00000258616 chr14 45706250 45715952 - LINC02303 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258618 chr14 67714545 67715204 + RPL21P9 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000258619 chr14 32241524 32243093 - AL136298.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258620 chr14 100406599 100407613 + AL135838.1 sense_intronic 0 0 0 1 0 0 0 0 0 ENSG00000258622 chr14 42657763 42657918 - AL442163.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258623 chr14 68683411 68685565 - AL121820.1 antisense 0 2 7 7 2 5 6 3 14 ENSG00000258624 chr15 27340524 27340804 + SERPINE4P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258625 chr14 20204606 20210498 + OR11H5P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258626 chr14 67652300 67652614 - COX7A2P1 processed_pseudogene 0 0 0 0 3 0 3 0 0 ENSG00000258627 chr15 93825058 93825159 - AC103996.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258628 chr15 20228620 20277503 - AC126603.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258629 chr14 65879592 65881070 - AL391261.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258630 chr14 95329584 95335504 + LINC02292 lincRNA 101929080 0 0 0 0 1 0 0 0 0 ENSG00000258631 chr15 93589867 93760799 + AC110023.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258632 chr15 94273496 94274005 + AC135626.1 processed_pseudogene 1 0 0 1 2 3 0 0 3 ENSG00000258633 chr14 44876874 44897077 - AL049870.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258634 chr1 110058340 110062555 + AL160006.1 antisense 76 73 81 154 174 239 147 119 185 ENSG00000258636 chr14 41587861 41604856 - AL121821.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258637 chr14 79661666 79791263 - AC008056.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258638 chr14 62514872 62515123 - AL389895.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258639 chr14 48045481 48046216 + AL359212.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258640 chr14 31111569 31112239 - RPL21P5 processed_pseudogene 0 0 0 4 1 0 0 3 5 ENSG00000258641 chr14 20093353 20094263 + OR4T1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258642 chr14 20874305 20875768 - AL133371.1 antisense 0 0 0 0 4 0 0 0 0 ENSG00000258643 chr14 23306835 23325369 + BCL2L2-PABPN1 protein_coding This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]. 100529063 0 0 1 0 0 0 0 0 0 ENSG00000258644 chr14 70326064 70417074 - SYNJ2BP-COX16 protein_coding This locus represents naturally occurring read-through transcription between the neighboring SYNJ2BP (synaptojanin 2 binding protein) and COX16 (COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)) genes on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2011]. 100529257 0 0 0 0 0 0 0 0 0 ENSG00000258645 chr14 63601509 63601814 + HSPE1P2 processed_pseudogene 0 1 4 5 0 2 3 3 0 ENSG00000258646 chr14 75004719 75008481 - AL049780.1 antisense 1 1 1 8 3 1 20 5 10 ENSG00000258647 chr15 92567818 92572042 - LINC00930 lincRNA 0 1 0 0 3 5 3 2 0 ENSG00000258648 chr14 30683045 30683598 - UBE2CP1 processed_pseudogene 0 0 0 0 0 0 2 1 0 ENSG00000258649 chr14 38190983 38202923 + AL392023.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258650 chr14 58463971 58464136 + HSBP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258651 chr14 39103140 39103812 + SEC23A-AS1 lincRNA 105370458 9 10 17 4 4 2 5 14 12 ENSG00000258653 chr14 73851971 73932278 + AC005520.1 protein_coding 3 0 0 0 3 0 1 3 3 ENSG00000258654 chr15 20344736 20359166 + AC026495.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258655 chr14 32074946 32076793 - ARHGAP5-AS1 antisense 2 1 2 2 0 0 1 0 0 ENSG00000258656 chr14 60972272 60972466 - AL160236.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258657 chr14 24595723 24657774 + AL136018.1 antisense 0 0 0 0 0 0 0 0 1 ENSG00000258658 chr14 58370023 58395641 - AL139021.2 antisense 0 2 2 7 12 15 4 1 5 ENSG00000258659 chr11 5619764 5644398 + TRIM34 protein_coding The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. Expression of this gene is up-regulated by interferon. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from the upstream TRIM6 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]. 53840 GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, GO:0061630, GO:0042803, GO:0042802, GO:0019901, GO:0008270, GO:0003674, ubiquitin protein ligase activity, protein homodimerization activity, identical protein binding, protein kinase binding, zinc ion binding, molecular_function, GO:0060333, GO:0051607, GO:0051092, GO:0051091, GO:0046596, GO:0045087, GO:0043123, GO:0032880, GO:0016567, GO:0010508, GO:0010468, GO:0000209, interferon-gamma-mediated signaling pathway, defense response to virus, positive regulation of NF-kappaB transcription factor activity, positive regulation of DNA-binding transcription factor activity, regulation of viral entry into host cell, innate immune response, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of protein localization, protein ubiquitination, positive regulation of autophagy, regulation of gene expression, protein polyubiquitination, 1 0 0 1 0 0 0 0 0 ENSG00000258660 chr14 73698103 73700351 - AC006146.1 antisense 0 0 3 1 2 3 2 4 10 ENSG00000258661 chr14 36647083 36658801 - AL079303.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258662 chr14 79246668 79249023 - AC022469.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258663 chr14 100834432 100861026 - AL117190.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258665 chr15 91031712 91032435 - AC068831.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258666 chr14 100333790 100354061 + AL157871.4 antisense 115 177 143 52 65 56 46 54 45 ENSG00000258667 chr14 61715558 61751097 - HIF1A-AS2 lincRNA 105370526 34 32 43 20 42 55 35 20 25 ENSG00000258668 chr14 77652827 77653055 - COX6CP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258670 chr14 60515119 60554916 + AL049874.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258671 chr14 39211781 39212255 + AL132639.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258672 chr14 99691445 99693648 - AL160313.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258673 chr1 110082688 110109719 + LINC01397 antisense 104355139 0 0 0 0 1 0 4 0 0 ENSG00000258674 chr19 19516227 19536076 + AC011448.1 protein_coding 0 3 1 12 9 0 1 1 4 ENSG00000258675 chr14 81441987 81450157 - LINC02308 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258676 chr15 92580829 92600545 + AC091544.2 processed_transcript 1 1 0 0 1 4 0 0 0 ENSG00000258677 chr8 73688691 73878854 - AC022826.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258678 chr14 90452063 90455117 - LINC02317 lincRNA 101930294 0 0 0 0 0 0 0 0 0 ENSG00000258679 chr12 56822985 56874268 + AC121758.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258680 chr14 38835389 38835788 + AL132994.1 processed_pseudogene 0 2 0 0 0 0 0 2 0 ENSG00000258681 chr14 101217372 101218241 - AL355836.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258682 chr14 58264662 58269681 + AL132989.1 sense_overlapping 65 52 58 33 30 74 32 22 44 ENSG00000258683 chr14 82788478 82796221 - AL355095.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258684 chr15 21160305 21167357 + BMS1P16 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000258685 chr14 59135488 59136421 - AL359219.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258687 chr14 50848122 50865659 + AL358334.1 antisense 1 0 1 0 0 0 0 2 0 ENSG00000258689 chr14 70698698 70712153 + LINC01269 lincRNA 103695436 1 2 0 3 8 0 1 2 1 ENSG00000258690 chr14 36788644 36807163 + AL162464.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258691 chr14 96204844 96263929 + AL355102.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258692 chr14 60493766 60496885 - SALL4P7 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258693 chr14 99977115 99978098 - AL133368.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258694 chr14 52111122 52129625 - LINC02319 lincRNA 0 0 0 4 0 0 0 0 0 ENSG00000258695 chr14 73522878 73530610 + AC005225.3 antisense 0 1 0 0 0 0 0 0 0 ENSG00000258696 chr14 38003113 38004847 - AL359233.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258698 chr14 52792875 52820034 - AL139317.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258699 chr14 89355060 89356571 + AL357093.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258700 chr14 45940943 46501823 + LINC00871 lincRNA 100506412 0 0 0 0 0 0 0 0 0 ENSG00000258701 chr14 104821201 104823718 + LINC00638 lincRNA 196872 0 0 3 0 0 1 0 0 0 ENSG00000258702 chr14 96592733 96595763 + AL137786.1 processed_transcript 0 0 0 0 0 0 1 0 1 ENSG00000258703 chr14 56759379 56765757 + AL161757.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258704 chr14 34920858 34982532 - SRP54-AS1 transcribed_unitary_pseudogene 9 6 12 7 11 24 12 12 27 ENSG00000258705 chr14 22011910 22014964 + AC245505.2 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000258706 chr15 19967414 19968352 - SLC20A1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258707 chr15 20626819 20627365 - AC023310.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258708 chr14 37171888 37173811 + SLC25A21-AS1 antisense 100129794 0 0 0 0 0 0 0 0 0 ENSG00000258710 chr15 20940438 20993303 + LINC01193 lincRNA 348120 0 0 0 0 0 0 0 0 0 ENSG00000258711 chr14 50956259 50962002 - AL358334.2 lincRNA 1 0 0 0 3 9 0 1 0 ENSG00000258712 chr15 21372793 21373881 - CXADRP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258713 chr20 2814987 2815833 + C20orf141 protein_coding 128653 GO:0016021, integral component of membrane, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000258716 chr14 90697333 90699374 + AL139193.2 antisense 105370622 0 0 0 0 0 0 0 0 0 ENSG00000258717 chr14 100675930 100679884 - AL132711.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258718 chr14 81727780 81743138 - LINC02311 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258719 chr14 78695321 78698122 - AC009396.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258721 chr15 22009547 22010529 - OR11H3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258722 chr14 21110295 21113472 - CKAP2P1 processed_pseudogene 0 1 0 0 1 0 0 0 0 ENSG00000258723 chr14 78279572 78283376 - AF099810.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258724 chr8 10725399 10839847 - PINX1 protein_coding 54984 GO:0005819, GO:0005730, GO:0005730, GO:0005654, GO:0000781, GO:0000777, GO:0000776, GO:0000228, spindle, nucleolus, nucleolus, nucleoplasm, chromosome, telomeric region, condensed chromosome kinetochore, kinetochore, nuclear chromosome, GO:0070034, GO:0044877, GO:0010521, GO:0010521, GO:0010521, GO:0010521, GO:0005515, telomerase RNA binding, protein-containing complex binding, telomerase inhibitor activity, telomerase inhibitor activity, telomerase inhibitor activity, telomerase inhibitor activity, protein binding, GO:1904751, GO:1904744, GO:1904357, GO:1902570, GO:0070198, GO:0051974, GO:0051974, GO:0051974, GO:0051972, GO:0032211, GO:0032211, GO:0031647, GO:0031397, GO:0010972, GO:0008285, GO:0007080, GO:0007004, positive regulation of protein localization to nucleolus, positive regulation of telomeric DNA binding, negative regulation of telomere maintenance via telomere lengthening, protein localization to nucleolus, protein localization to chromosome, telomeric region, negative regulation of telomerase activity, negative regulation of telomerase activity, negative regulation of telomerase activity, regulation of telomerase activity, negative regulation of telomere maintenance via telomerase, negative regulation of telomere maintenance via telomerase, regulation of protein stability, negative regulation of protein ubiquitination, negative regulation of G2/M transition of mitotic cell cycle, negative regulation of cell population proliferation, mitotic metaphase plate congression, telomere maintenance via telomerase, 0 0 0 0 0 0 0 0 0 ENSG00000258725 chr15 90966345 90988624 + PRC1-AS1 antisense 100507118 17 6 19 16 4 5 4 12 12 ENSG00000258726 chr15 92281484 92282084 + DUXAP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258727 chr14 23561097 23568073 + AL135999.1 antisense 102724814 207 233 319 319 285 309 265 184 265 ENSG00000258728 chr9 34646645 34657113 + AL162231.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258729 chr14 96275046 96276723 - AL355102.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258730 chr14 93067452 93072152 + ITPK1-AS1 antisense 319085 1 1 0 0 1 0 3 0 0 ENSG00000258731 chr14 53153354 53157528 + AL356020.1 antisense 101927620 0 0 0 0 0 0 0 0 0 ENSG00000258732 chr15 22278971 22282872 + AC025884.1 unprocessed_pseudogene 5 0 1 3 4 3 6 3 1 ENSG00000258733 chr14 85934710 86129778 + LINC02328 lincRNA 11 7 11 14 3 12 12 8 9 ENSG00000258734 chr14 58827679 58828176 - AL049873.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258735 chr14 103847721 103858049 + LINC00637 lincRNA 145216 0 0 0 0 0 0 0 0 0 ENSG00000258736 chr14 104653548 104655787 - AL583722.3 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000258737 chr14 74305425 74306527 + SUB1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258738 chr14 34874343 34876459 + AL121603.2 antisense 112268124 639 500 813 290 348 683 481 420 862 ENSG00000258739 chr15 92420860 92422735 + ENO1P2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258740 chr14 75238616 75269283 - AL691403.1 lincRNA 2 6 1 1 0 3 1 2 0 ENSG00000258741 chr15 92715710 92734195 - H2AFVP1 transcribed_processed_pseudogene 10 15 11 9 18 15 10 8 18 ENSG00000258742 chr14 92886352 92893506 + AL117192.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258743 chr14 82642620 82706825 + LINC02301 lincRNA 101928599 0 0 0 0 0 0 0 0 0 ENSG00000258744 chr14 24501594 24508688 + AL132800.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258745 chr14 50912226 50913358 + AL358334.3 antisense 523 411 549 242 307 210 251 253 278 ENSG00000258746 chr14 45502742 45503140 - AL162632.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258747 chr14 44507407 44538513 + AL356022.1 antisense 105370473 0 0 0 0 0 0 0 0 0 ENSG00000258748 chr14 104137150 104137898 - AL359399.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258749 chr14 99512501 99513576 + AL110504.1 antisense 0 2 3 4 0 4 9 0 7 ENSG00000258750 chr14 48398310 48399375 + AL358335.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258751 chr14 48396508 48491767 - AL358335.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258752 chr14 89350285 89364699 + AL357093.2 antisense 8 8 2 7 19 5 1 9 20 ENSG00000258753 chr14 54470709 54471218 + AL359792.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258754 chr15 93718542 94070820 - LINC01579 lincRNA 105369203 18 17 25 3 16 9 9 6 12 ENSG00000258757 chr14 52640839 52641566 + AL133453.1 antisense 74 99 95 29 109 58 82 63 77 ENSG00000258758 chr14 57040885 57042504 + AL137100.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258759 chr14 67799004 67799609 + AL049779.2 processed_pseudogene 0 0 1 0 0 1 0 0 0 ENSG00000258760 chr14 65236480 65318790 - AL355076.2 lincRNA 0 0 2 0 0 5 0 0 0 ENSG00000258761 chr15 92162798 92172436 - AC116903.1 antisense 267 239 256 217 259 258 199 172 228 ENSG00000258762 chr14 84172841 84173606 + MTND4P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258763 chr12 55434734 55585471 - AC122685.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258764 chr14 60544400 60544654 + AL049874.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258765 chr15 91643017 91649114 - AC107958.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258766 chr14 80211419 80455469 + DIO2-AS1 antisense 100628307 0 0 0 0 0 0 0 0 0 ENSG00000258767 chr15 21382383 21382842 + AC060814.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258768 chr14 20260480 20264308 - AL356019.2 lincRNA 0 4 1 6 5 3 1 1 7 ENSG00000258769 chr14 74482985 74483435 + RAP1AP processed_pseudogene 5 16 7 53 76 65 55 51 45 ENSG00000258770 chr14 87634379 87655294 - LINC02330 lincRNA 105370611 0 0 0 0 0 0 0 0 0 ENSG00000258771 chr15 21080812 21081447 - BCAR1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258772 chr14 20916766 20928580 - AL355922.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258773 chr15 95080095 95132859 - AC087636.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258774 chr14 91604402 91605319 - NANOGP7 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258776 chr14 56817570 56893710 - AL161757.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258777 chr14 61681041 61695823 - HIF1A-AS1 lincRNA 100750246 789 712 1105 107 167 177 178 129 165 ENSG00000258778 chr14 63734697 63735923 + AL161670.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258779 chr16 73386805 73504954 + LINC01568 lincRNA 100506172 0 0 0 0 0 0 0 0 0 ENSG00000258780 chr15 20153776 20160826 + BMS1P15 unprocessed_pseudogene 0 0 0 3 0 0 0 1 1 ENSG00000258781 chr14 19228898 19229945 - AL589743.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258782 chr14 59479274 59525437 - AL121694.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000258783 chr14 35511825 35513089 - KRT18P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258784 chr14 55748208 55773203 + AL355773.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258785 chr15 93900701 93984150 + LINC01580 lincRNA 101927129 0 0 0 0 0 0 0 0 0 ENSG00000258787 chr15 93430659 93431217 - AC091078.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258788 chr14 96223108 96223347 + CKS1BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258789 chr14 88551597 88552493 + AL162171.1 antisense 0 2 0 0 0 0 0 0 0 ENSG00000258790 chr14 35122549 35317474 + AL121594.1 protein_coding 0 0 0 1 0 1 0 0 0 ENSG00000258791 chr14 55781132 55796731 - LINC00520 lincRNA 645687 0 0 0 0 0 0 0 0 0 ENSG00000258792 chr14 89628921 89642671 - AL137230.1 lincRNA 105370616 0 0 0 0 0 0 0 1 0 ENSG00000258793 chr14 96259411 96268624 - AL355102.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258794 chr12 34208415 34209675 - DUX4L27 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000258795 chr14 98497132 98514798 + AL132719.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258796 chr14 66760532 66761018 + AL133241.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258797 chr15 20545576 20549444 - AC023310.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258798 chr14 91418266 91421176 + AL133153.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258799 chr15 20901441 20901609 - ZNF519P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258800 chr14 63598874 63599248 + AL136038.2 lincRNA 4 8 10 19 8 9 17 2 18 ENSG00000258802 chr14 52798904 52799061 - AL139317.2 processed_pseudogene 0 1 0 0 0 0 0 1 0 ENSG00000258803 chr14 56514331 56551309 + AL355103.1 lincRNA 101927690 0 0 0 0 0 0 0 0 0 ENSG00000258804 chr14 86905778 86922755 + LINC01148 lincRNA 283585 0 0 0 0 0 0 0 0 0 ENSG00000258805 chr14 94633705 94634524 + ADIPOR1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258806 chr14 20229402 20230346 + OR11H7 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258807 chr14 87710419 87872291 - AL359237.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258808 chr14 51392128 51397135 - LINC02310 lincRNA 105370496 0 0 0 0 0 0 0 0 0 ENSG00000258810 chr14 20783888 20784293 + AL133371.2 antisense 9 14 21 0 20 2 5 14 3 ENSG00000258811 chr14 104842663 104845916 + AL583810.2 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000258812 chr14 22190158 22190713 + TRAV33 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258813 chr14 73057925 73059415 - AL442663.3 antisense 142 149 132 80 155 224 144 152 144 ENSG00000258814 chr14 85387275 85388765 + LINC02329 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258815 chr12 85318060 85342912 + AC131532.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258816 chr12 56855694 56855886 + AC121758.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258817 chr11 49952391 49953419 + OR4C13 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 283092 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000258818 chr14 20684100 20701215 + RNASE4 protein_coding The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in four transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2013]. 6038 GO:0005615, GO:0005615, GO:0005576, extracellular space, extracellular space, extracellular region, GO:0004540, GO:0004540, GO:0004522, GO:0003676, ribonuclease activity, ribonuclease activity, ribonuclease A activity, nucleic acid binding, GO:0090502, GO:0090501, GO:0006379, RNA phosphodiester bond hydrolysis, endonucleolytic, RNA phosphodiester bond hydrolysis, mRNA cleavage, 0 0 0 0 0 0 0 0 0 ENSG00000258819 chr14 77069180 77076344 - LINC02289 lincRNA 102724190 238 336 252 79 173 155 103 199 139 ENSG00000258820 chr14 75259411 75271950 + AF111167.1 antisense 1 7 4 5 20 17 10 12 17 ENSG00000258822 chr14 19954490 19957996 + OR4K16P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258823 chr14 22723476 22726572 - AL160314.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258824 chr14 64422935 64448557 - AL122035.1 antisense 1 0 2 7 2 4 12 0 1 ENSG00000258826 chr14 88018605 88036319 - AL157955.2 lincRNA 5 2 7 0 5 2 0 0 0 ENSG00000258827 chr14 37097062 37098563 - AL079304.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000258828 chr14 43540883 43541826 - KRT8P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258829 chr14 79072132 79074767 - AC026888.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258830 chr12 57249609 57296484 - AC137834.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258831 chr15 93882082 93886743 + AC103996.2 lincRNA 32 31 39 19 37 30 52 27 34 ENSG00000258834 chr4 190081118 190082386 + DUX4L4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258835 chr14 22155079 22155638 + TRAV28 TR_V_pseudogene 0 0 1 0 0 0 0 0 3 ENSG00000258836 chr14 58100985 58101574 + AL121579.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258837 chr14 68125004 68130196 - AL133370.1 antisense 0 0 0 0 1 0 1 1 0 ENSG00000258839 chr16 89912119 89920977 + MC1R protein_coding This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]. 4157 GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005737, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0031625, GO:0008528, GO:0005515, GO:0004980, GO:0004980, GO:0004977, GO:0004930, ubiquitin protein ligase binding, G protein-coupled peptide receptor activity, protein binding, melanocyte-stimulating hormone receptor activity, melanocyte-stimulating hormone receptor activity, melanocortin receptor activity, G protein-coupled receptor activity, GO:0090037, GO:0070914, GO:0051897, GO:0045944, GO:0043473, GO:0042438, GO:0035556, GO:0032720, GO:0019233, GO:0019222, GO:0010739, GO:0009650, GO:0007275, GO:0007189, GO:0007189, GO:0007187, GO:0007186, positive regulation of protein kinase C signaling, UV-damage excision repair, positive regulation of protein kinase B signaling, positive regulation of transcription by RNA polymerase II, pigmentation, melanin biosynthetic process, intracellular signal transduction, negative regulation of tumor necrosis factor production, sensory perception of pain, regulation of metabolic process, positive regulation of protein kinase A signaling, UV protection, multicellular organism development, adenylate cyclase-activating G protein-coupled receptor signaling pathway, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 19 33 30 42 48 60 50 43 46 ENSG00000258841 chr14 81661428 81662874 + EEF1A1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258842 chr14 62069518 62081154 - AL390816.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258843 chr14 50821880 50823501 + AL133485.1 antisense 112 115 157 30 54 51 55 50 54 ENSG00000258844 chr14 36214607 36235608 + AL162511.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258845 chr14 45567995 45569069 + AL139354.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000258846 chr12 96900697 96902698 - EEF1A1P33 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000258847 chr14 65957297 66004523 - AL391261.2 lincRNA 0 0 0 0 0 6 0 0 0 ENSG00000258848 chr15 21383821 21384064 + GRAMD4P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258849 chr14 51771789 51772086 - OR7E159P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258850 chr14 42412573 42528888 + AL450442.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258851 chr14 103553421 103561877 + AL139300.2 antisense 0 1 2 1 0 0 2 0 3 ENSG00000258853 chr15 27684498 27685768 - AC021979.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258854 chr14 51982520 51987219 - AL358333.1 antisense 1 2 0 0 0 3 0 0 0 ENSG00000258855 chr15 20960675 20961581 + OR11J2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258856 chr14 57629841 57631162 + AL136520.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258857 chr14 50397013 50398345 + AL359397.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258858 chr14 104690091 104691284 - AL583722.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258859 chr14 87353070 87573022 - LINC02296 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258860 chr14 35362232 35363628 - AL133163.2 lincRNA 0 0 0 0 1 4 0 0 1 ENSG00000258861 chr14 101045157 101051795 + MIR381HG lincRNA 378881 0 0 0 0 0 0 0 0 0 ENSG00000258863 chr14 20528115 20528959 - SETP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258864 chr5 112827213 112867582 + AC008575.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258866 chr14 95048220 95050953 + AL390254.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258867 chr14 88024550 88097619 + LINC01146 lincRNA 283587 3 9 4 3 4 4 2 4 1 ENSG00000258868 chr14 49057713 49077505 - AL110505.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258869 chr14 97749264 97763989 - LINC02312 lincRNA 100132612 5 1 4 0 0 0 3 0 0 ENSG00000258870 chr14 21419620 21419960 + EIF4EBP1P1 processed_pseudogene 0 0 2 0 1 0 0 0 0 ENSG00000258871 chr14 72552580 72595125 - AC004828.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258872 chr14 54884849 54886213 - FDPSP3 transcribed_processed_pseudogene 0 0 1 1 1 7 2 1 7 ENSG00000258873 chr19 57154021 57167443 - DUXA protein_coding Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]. 503835 GO:0005634, GO:0000785, nucleus, chromatin, GO:1990837, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000258874 chr14 78703615 78709934 - AC009396.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258875 chr14 91242759 91252211 + AL135818.1 processed_transcript 67 93 79 125 162 111 124 114 144 ENSG00000258876 chr14 75970924 75971587 + TGFB3-AS1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000258877 chr14 62604113 62605717 - ATP5F1AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258878 chr14 65234515 65235101 - AL355076.3 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000258881 chr2 70939318 70995336 - AC007040.2 protein_coding 1 0 0 0 0 0 0 2 0 ENSG00000258883 chr15 21250180 21260147 - AC068446.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258884 chr14 90822365 90828128 - LINC02321 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000258885 chr9 36856555 36861375 + AL450267.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258886 chr14 30964347 30964622 + HIGD1AP17 processed_pseudogene 0 0 1 0 0 5 3 0 0 ENSG00000258887 chr14 23817281 23827396 - AL160237.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258888 chr15 93257198 93260475 + AC112693.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000258890 chr17 64506588 64542461 + CEP95 protein_coding 90799 GO:0005813, GO:0005737, GO:0000922, centrosome, cytoplasm, spindle pole, GO:0005515, protein binding, 464 524 525 479 696 642 612 423 495 ENSG00000258891 chr14 73896164 73938114 - AC005480.1 antisense 38 51 64 50 44 57 52 39 30 ENSG00000258892 chr14 60879714 60982585 + AL160236.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000258893 chr14 51436038 51436963 + SETP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258894 chr14 43595136 43596683 + AL358913.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258895 chr15 94033658 94034177 + AC104390.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258896 chr14 60158976 60159324 + SCOCP1 processed_pseudogene 3 2 0 0 1 7 0 0 0 ENSG00000258897 chr14 34040097 34059300 + EGLN3-AS1 antisense 0 0 0 1 0 5 0 0 0 ENSG00000258899 chr14 20043916 20044827 + OR4U1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258900 chr14 58521223 58521988 + HNRNPCP1 processed_pseudogene 7 10 12 16 12 10 14 6 4 ENSG00000258901 chr14 41555662 41556055 - AL121821.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258902 chr14 85362457 85516934 - AL049775.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258903 chr14 62103378 62117175 - AL390816.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258904 chr14 100263781 100265405 + AL157871.5 sense_intronic 4 10 2 6 2 2 12 5 0 ENSG00000258905 chr14 22185562 22186057 + TRAV32 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258906 chr14 21184341 21184959 - AL157687.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258907 chr12 55654558 55655168 - AC009779.3 processed_pseudogene 1 0 4 5 15 15 10 9 11 ENSG00000258908 chr14 20474789 20477089 - AL355075.3 lincRNA 15 13 51 685 577 414 444 353 236 ENSG00000258909 chr15 93416850 93422576 - AC091078.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258910 chr2 118766965 118835110 - LINC01956 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258912 chr14 86014686 86062960 - LINC02316 lincRNA 1 0 0 0 0 0 1 0 0 ENSG00000258913 chr14 104223584 104288069 + AL590079.1 lincRNA 145195 0 0 0 0 0 0 0 0 0 ENSG00000258914 chr14 103875055 103877478 + AL132712.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258915 chr14 80981988 80983638 + BHLHB9P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258916 chr15 20593494 20599195 - SPATA31E2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258917 chr14 77696591 77697377 + ZMYND19P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000258918 chr14 20897985 20936255 - AL355922.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258919 chr14 101628984 101632530 - AL049836.1 lincRNA 3 0 5 0 2 0 0 4 1 ENSG00000258920 chr14 89417354 89419793 + FOXN3-AS1 antisense 400236 17 2 4 2 4 3 1 4 2 ENSG00000258921 chr12 55638912 55659795 - AC009779.4 antisense 0 0 1 0 1 1 0 0 2 ENSG00000258922 chr15 92805770 92808567 - AC106028.2 sense_intronic 16 23 30 22 36 40 22 27 48 ENSG00000258923 chr14 84173791 84175510 + MTND5P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258924 chr17 28357647 28381697 + AC002094.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000258925 chr15 92285841 92286678 + NPM1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258926 chr14 61537508 61545287 - AL355916.1 antisense 12 19 19 14 6 19 11 3 19 ENSG00000258927 chr14 95620914 95643285 + AL133467.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258928 chr14 51916145 51918571 - AL358333.2 antisense 102723604 3 3 2 0 6 40 6 3 22 ENSG00000258930 chr14 71031686 71031970 - AC005230.1 transcribed_processed_pseudogene 2 0 1 1 2 21 0 8 6 ENSG00000258931 chr15 26050538 26052276 - AC100836.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258932 chr14 27258717 27845286 - AL390334.1 transcribed_processed_pseudogene 728755 0 0 0 0 0 0 0 0 0 ENSG00000258933 chr14 94960277 94962976 - LINC02279 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258934 chr14 42807378 42808112 - AL356800.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258935 chr14 90567495 90569976 + AL096869.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258938 chr14 35819224 35826765 - AL162311.3 antisense 2 0 1 0 1 0 2 0 1 ENSG00000258940 chr14 39265703 39267061 - AL132639.2 antisense 100288846 16 12 13 30 11 19 13 9 9 ENSG00000258942 chr14 51344914 51385603 - AL358332.1 lincRNA 0 1 0 0 1 0 0 0 0 ENSG00000258943 chr14 63298126 63299547 - AL049871.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258944 chr14 73272182 73274081 - AC004846.2 antisense 56 77 58 74 123 137 95 70 62 ENSG00000258945 chr14 85528599 85529386 + AL049775.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258947 chr16 89921392 89938761 + TUBB3 protein_coding This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]. 10381 GO:0070062, GO:0030426, GO:0030425, GO:0030424, GO:0030175, GO:0030027, GO:0005874, GO:0005874, GO:0005737, GO:0005634, extracellular exosome, growth cone, dendrite, axon, filopodium, lamellipodium, microtubule, microtubule, cytoplasm, nucleus, GO:1990890, GO:0005525, GO:0005515, GO:0005200, GO:0003924, netrin receptor binding, GTP binding, protein binding, structural constituent of cytoskeleton, GTPase activity, GO:1990791, GO:0038007, GO:0007411, GO:0007411, GO:0007411, GO:0000278, GO:0000226, dorsal root ganglion development, netrin-activated signaling pathway, axon guidance, axon guidance, axon guidance, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 3 3 2 4 4 3 0 ENSG00000258948 chr14 38727275 38728481 + KRT8P1 processed_pseudogene 0 2 1 3 0 9 0 2 3 ENSG00000258949 chr14 44898908 44911863 - AL049870.3 antisense 1 0 3 1 1 1 1 1 0 ENSG00000258951 chr14 70594552 70595770 + KRT18P7 processed_pseudogene 2 9 3 7 2 0 7 6 4 ENSG00000258952 chr14 60639216 60642589 + SALRNA1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258954 chr15 91532891 91535095 + AC107958.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258955 chr14 51304416 51328386 - LINC00519 lincRNA 0 0 0 1 0 0 0 2 0 ENSG00000258956 chr14 61831861 61832369 - COX4I1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258957 chr14 69183020 69214092 - AL359317.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258958 chr14 87323753 87332390 + AL157688.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258959 chr14 102036315 102066228 - AL118558.1 transcribed_unitary_pseudogene 66 77 128 99 90 93 82 60 86 ENSG00000258960 chr14 65900932 65901451 - AL391261.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258962 chr14 91709111 91710617 + AL121839.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258963 chr14 20734578 20735011 + EDDM3DP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258964 chr14 61734138 61776260 + AL137129.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000258965 chr15 25928146 25928575 - AC044913.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258966 chr14 71044375 71044640 - GTF3AP2 transcribed_processed_pseudogene 0 2 2 4 3 4 1 0 6 ENSG00000258967 chr14 68887785 68888084 - HMGN1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258968 chr14 31018446 31018796 + AL049830.4 processed_pseudogene 0 0 0 0 2 0 1 1 2 ENSG00000258969 chr14 43995781 44384545 - LINC02307 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258970 chr15 27418796 27420735 - AC104002.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258971 chr15 93301416 93301647 - AC112693.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258972 chr14 73631475 73632019 + NDUFB8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258973 chr14 24332310 24337382 - AL096870.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258975 chr14 88136733 88159845 - AL133279.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258976 chr14 74614693 74616647 - AC013451.2 lincRNA 12 18 16 3 11 11 7 7 20 ENSG00000258977 chr14 81605347 81623061 - LINC01467 lincRNA 101928559 0 0 0 0 0 0 0 0 0 ENSG00000258978 chr14 75116426 75116600 - HIF1AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258979 chr14 96738021 96790637 + LINC02299 lincRNA 105370646 0 0 0 0 0 0 0 0 0 ENSG00000258980 chr14 65528830 65529574 - EIF1AXP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258981 chr14 52117602 52117995 + COX5AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258982 chr14 100207407 100238555 - AL133523.1 antisense 1 8 4 5 2 4 0 4 5 ENSG00000258983 chr14 88499334 88515502 + AL162171.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258984 chr2 237967014 238099412 + UBE2F-SCLY protein_coding 0 0 0 1 0 0 2 0 1 ENSG00000258985 chr14 53036755 53038251 + AL352979.2 antisense 4 1 5 5 3 18 9 0 4 ENSG00000258986 chr14 104474678 104605647 - TMEM179 protein_coding 388021 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000258987 chr14 93939555 93944129 + AL132642.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000258988 chr14 67199062 67200327 + AL135978.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000258989 chr14 61529128 61657964 + AL355916.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000258990 chr14 89110148 89111223 - MPPE1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258991 chrY 11332329 11333595 + DUX4L19 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258992 chrY 9466955 9469748 + TSPY1 protein_coding The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is found in mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 7258 GO:0005737, GO:0005634, GO:0005575, cytoplasm, nucleus, cellular_component, GO:0042393, GO:0005515, GO:0003682, GO:0003674, histone binding, protein binding, chromatin binding, molecular_function, GO:0030154, GO:0007548, GO:0007506, GO:0007283, GO:0006334, cell differentiation, sex differentiation, gonadal mesoderm development, spermatogenesis, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000258993 chr14 53023055 53023597 + AL352979.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258994 chr14 86332376 86401285 + LINC02309 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000258995 chr14 63123007 63123201 + PARP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258996 chr14 59181593 59181940 + PPIAP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258997 chr15 21927657 21946641 - NF1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000258998 chr14 44763157 44782829 - LINC02302 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259000 chr14 44860316 44866247 - DOCK11P1 processed_pseudogene 1 1 5 3 1 1 0 0 0 ENSG00000259001 chr14 20343048 20343685 - AL355075.4 antisense 0 0 1 5 0 0 5 1 0 ENSG00000259002 chr14 34541740 34546329 - AL445363.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259003 chr14 22556640 22559037 + AC243965.1 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000259004 chr14 101120856 101123542 + LINC02285 lincRNA 101929422 14 18 8 4 18 9 6 16 1 ENSG00000259005 chr14 74474007 74474864 - AC005479.1 lincRNA 12 12 2 45 32 37 27 25 30 ENSG00000259006 chr16 89919827 89922662 - AC092143.2 antisense 4 7 9 8 22 9 18 12 13 ENSG00000259007 chr14 51967003 51969800 - AL358333.3 antisense 269 255 512 85 140 171 120 141 93 ENSG00000259008 chr14 57355446 57359410 + AL355834.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259009 chr19 47860113 47861512 + TPRX2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259010 chr14 64600243 64601644 - AL049869.1 processed_pseudogene 6 6 4 4 1 3 8 0 2 ENSG00000259011 chr15 25865295 25877211 + AC016266.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259012 chr14 84176419 84177088 + MTCYBP27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259013 chr14 101969364 101969601 - AL118558.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259015 chr14 72960595 72961993 + AL442663.4 processed_pseudogene 0 0 1 0 3 0 2 1 0 ENSG00000259016 chr14 19908096 19908649 - AL391156.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259017 chr14 35447003 35447625 - AL133163.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259018 chr14 23356406 23357003 + AL049829.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259019 chr14 44077534 44077884 - EIF4BP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259020 chr14 92026566 92026887 + AL049872.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259021 chr10 79499666 79499984 - TPRX1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259022 chr14 35430260 35430631 + DNAJC8P1 processed_pseudogene 10 7 3 7 1 2 4 5 6 ENSG00000259023 chr14 101405987 101407922 - LINC00524 lincRNA 338002 0 0 0 0 0 0 0 0 0 ENSG00000259024 chr17 15436021 15563561 - TVP23C-CDRT4 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Apr 2014]. 100533496 0 0 0 0 0 0 0 0 0 ENSG00000259025 chr15 21053004 21054702 - AC037471.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259026 chr14 97110416 97119247 - AL049833.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259028 chr14 87568181 87569399 + AL135746.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259029 chrY 11321557 11322823 + DUX4L18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259030 chr1 74198235 74544393 + FPGT-TNNI3K protein_coding This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. [provided by RefSeq, Dec 2010]. 100526835 1 1 1 0 3 0 2 2 1 ENSG00000259031 chr14 100538939 100540409 + AL845552.2 lincRNA 7 13 0 1 3 0 5 5 0 ENSG00000259032 chr14 82692704 82693055 - ENSAP2 processed_pseudogene 31 40 29 22 19 21 19 14 18 ENSG00000259033 chr14 70275296 70291859 + AL356804.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259035 chr14 81741002 82030349 + AL355838.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259036 chr14 96233431 96234101 - AL355102.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259037 chr14 104589021 104589847 - BX927359.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259038 chr14 68627166 68628445 - AL121820.2 antisense 1 0 0 0 0 2 5 0 0 ENSG00000259039 chr14 57578409 57600404 + AL161804.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259040 chr6 7881522 8064364 - BLOC1S5-TXNDC5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259041 chr15 98282075 98285907 + AC015722.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259042 chr14 22417836 22418657 + AC244502.3 lincRNA 10 10 10 7 1 12 1 1 0 ENSG00000259043 chr14 23749236 23751150 + BRD7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259044 chr14 85202849 85239474 - AL357172.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259045 chr14 32484098 32484800 - MTCO1P2 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000259046 chr14 44888556 44889041 - AL049870.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259047 chr14 42989201 42989483 + AL163153.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259048 chr14 38034287 38194281 - AL392023.2 antisense 0 0 0 0 1 1 0 0 0 ENSG00000259049 chr14 52775237 52777740 + AL139317.3 antisense 3 8 12 21 11 7 13 10 8 ENSG00000259050 chr14 89736965 89738391 - CHORDC2P processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000259051 chr14 43300263 43300595 + HNRNPUP1 processed_pseudogene 2 0 2 1 0 5 1 0 2 ENSG00000259052 chr14 100279959 100291456 - AL157871.6 sense_overlapping 22 23 17 2 16 6 12 9 7 ENSG00000259053 chr14 89412312 89954659 - AL137230.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259054 chr14 22556311 22557062 - LINC02332 lincRNA 105370400 0 0 0 0 0 0 2 0 0 ENSG00000259055 chr14 51088957 51091288 + AL591770.1 antisense 1 0 2 0 0 0 1 2 0 ENSG00000259056 chr2 84750769 84751231 + DUXAP1 transcribed_unprocessed_pseudogene 0 1 0 2 0 2 0 0 0 ENSG00000259057 chr15 91742841 91743955 - AC105109.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259058 chr14 76921840 76924649 - AF111169.2 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000259059 chr14 96423700 96424209 - PEBP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259060 chr14 20582892 20609795 - AL163195.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259061 chr14 86936640 86989125 + AL358292.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259062 chr14 68979682 68987463 + ACTN1-AS1 antisense 161159 3 3 2 5 7 14 9 2 11 ENSG00000259064 chr15 92627073 92627414 + AC091544.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259065 chr14 73787360 73803270 + AC005520.2 antisense 1 7 1 2 0 3 2 1 0 ENSG00000259066 chr14 93184973 93218586 + AL110118.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259067 chr14 104904342 104905204 + AL583810.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259068 chr14 22265749 22266264 + TRAV37 TR_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259069 chr14 19677644 19679016 - AL512310.9 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259070 chr14 38749339 38948273 - LINC00639 lincRNA 283547 58 59 44 26 38 47 42 40 24 ENSG00000259071 chr14 50326526 50327909 - AL359397.2 lincRNA 12 3 11 2 5 7 13 9 3 ENSG00000259072 chr14 38290953 38311930 + AL161751.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259073 chr14 89576216 89577477 + FOXN3-AS2 antisense 29018 0 3 0 0 2 0 1 1 4 ENSG00000259074 chr14 20149232 20149745 + PSMB7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259075 chr12 89519408 89526262 - POC1B-GALNT4 protein_coding This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010]. 100528030 8 2 8 0 4 0 0 6 12 ENSG00000259076 chr14 64552694 64596536 - AL049869.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259077 chr14 87810982 87838339 + AL136501.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259078 chr14 65279267 65281166 + PTBP1P processed_pseudogene 0 0 0 0 0 7 0 0 0 ENSG00000259079 chr14 71330342 71330738 - AC005476.1 processed_pseudogene 1 1 6 5 11 19 4 4 16 ENSG00000259080 chr2 27583046 27635174 + AC074091.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259081 chr14 76774284 76781518 - AF111169.3 antisense 0 0 0 6 1 2 0 2 5 ENSG00000259082 chr14 101442076 101444315 + LINC02314 lincRNA 100507277 0 0 0 0 0 0 0 0 0 ENSG00000259083 chr14 39174885 39175880 - AL132639.3 antisense 67 65 79 39 43 75 87 44 58 ENSG00000259084 chr14 95663256 95692630 + AL133467.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259086 chr14 32271857 32272301 - AL136298.3 processed_pseudogene 2 8 4 3 5 2 4 4 1 ENSG00000259087 chr14 37556158 37567095 - AL121790.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259088 chr14 101796555 101810321 - AL137779.2 antisense 1 3 3 2 6 0 7 1 1 ENSG00000259089 chr15 20813299 20814958 + GRAMD4P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259090 chr14 35157904 35159099 - SEPT7P1 processed_pseudogene 1 1 0 3 2 2 2 1 0 ENSG00000259091 chr14 37896060 37902372 - LINC00517 antisense 400208 0 0 0 0 0 0 0 0 0 ENSG00000259092 chr14 22168429 22168988 + TRAV30 TR_V_gene 2 1 0 2 0 7 0 1 0 ENSG00000259093 chr14 63123033 63128214 - AL137191.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259094 chr2 118949306 118952983 - AC013457.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259095 chr14 20173632 20173813 - GTF2IP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259096 chr14 87952527 87955203 + SHLD2P2 processed_pseudogene 6 13 9 1 1 2 2 6 4 ENSG00000259097 chr14 98068240 98205143 - AL163932.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000259098 chr15 22258138 22258848 + AC025884.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259099 chr12 56380361 56382711 - AC025574.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259100 chr14 39385404 39387102 - AL157791.1 processed_pseudogene 0 0 3 2 3 10 5 4 3 ENSG00000259102 chr14 21162513 21163743 + SMARCE1P3 processed_pseudogene 2 0 1 0 1 1 0 1 2 ENSG00000259103 chr14 75814502 75847698 - AF107885.2 antisense 2 2 1 3 0 0 3 0 0 ENSG00000259104 chr14 36136108 36176468 - PTCSC3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259105 chr14 35468272 35469330 + RPS3AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259106 chr14 79611418 79633311 - AC008056.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259107 chr14 85393879 85420074 + LINC00911 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259108 chr19 47863483 47865341 - LINC01595 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259109 chr14 73189763 73190004 + AC004858.1 processed_pseudogene 1 2 2 1 0 0 1 0 3 ENSG00000259110 chr14 97154857 97158736 + LINC02304 lincRNA 105370648 0 0 0 0 0 0 0 0 0 ENSG00000259111 chr14 51750560 51763114 + AL079307.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259112 chr11 78016971 78079865 - NDUFC2-KCTD14 protein_coding This locus represents naturally occurring read-through transcription between the neighboring NDUFC2 (NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa) and KCTD14 (potassium channel tetramerisation domain containing 14) genes on chromosome 11. The read-through transcripts share sequence identity with the upstream gene product and one variant has a frameshifted C-terminal region derived from the downstream gene exons. [provided by RefSeq, Feb 2011]. 100532726 GO:0016021, GO:0005747, GO:0005739, integral component of membrane, mitochondrial respiratory chain complex I, mitochondrion, GO:0008137, NADH dehydrogenase (ubiquinone) activity, GO:0006120, mitochondrial electron transport, NADH to ubiquinone, 0 0 0 0 0 0 0 0 0 ENSG00000259113 chr14 50448807 50456742 + AL118556.1 lincRNA 2 4 12 8 2 4 4 2 9 ENSG00000259115 chr14 70593314 70641204 - AL357153.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259116 chr14 64513952 64540368 - AL049869.3 antisense 102723809 6 10 19 19 14 40 35 9 31 ENSG00000259117 chr14 47801926 47802201 - AL121576.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259118 chr14 65082034 65094212 + AL139022.1 antisense 206 269 317 109 232 209 179 172 131 ENSG00000259119 chr14 98925137 98927805 - AL132796.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259120 chr17 75646243 75647977 + SMIM6 protein_coding 100130933 GO:0016021, integral component of membrane, 2 3 6 0 3 3 0 1 0 ENSG00000259121 chr14 39090901 39091101 + AL109628.1 processed_pseudogene 0 0 0 2 0 0 2 1 0 ENSG00000259122 chr15 26964917 26970385 + TVP23BP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259123 chr15 93837611 93852981 - AC103996.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259124 chr14 76495363 76726712 - AC008050.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259125 chr12 57144620 57147619 - LRP1-AS antisense 105751187 0 0 0 2 0 3 5 2 0 ENSG00000259126 chr14 44392531 44393716 - AL161752.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259129 chr14 47764954 47795092 - LINC00648 lincRNA 100506433 0 0 0 0 0 0 0 0 0 ENSG00000259130 chr14 20870278 20873592 - AL133371.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259132 chr14 22946270 22982258 - AL132780.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259133 chr14 56648965 56730535 - AL161757.5 antisense 22 23 30 45 33 48 48 14 15 ENSG00000259134 chr15 95326528 95507847 + LINC00924 lincRNA 145820 0 0 0 3 0 0 0 0 0 ENSG00000259135 chr14 34556774 34561298 + AL445363.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259136 chr14 57044646 57044960 - AL137100.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259137 chr14 44120210 44120761 - AL109766.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000259138 chr14 75127153 75136930 + AL049780.2 antisense 4 3 10 2 4 0 3 3 0 ENSG00000259140 chr14 94674877 94675829 - AL049839.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259142 chr14 62134149 62139973 - LINC00644 lincRNA 101954204 0 0 0 0 0 0 0 0 0 ENSG00000259143 chr14 95185117 95185854 - AL356017.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000259144 chr14 20720742 20723127 - RANBP20P processed_pseudogene 2 2 4 0 1 1 2 1 1 ENSG00000259146 chr14 71292729 71321814 - AC005476.2 antisense 0 6 6 7 7 19 4 5 10 ENSG00000259148 chr14 44290997 44291718 - YWHAZP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259149 chr14 42259731 42268586 - AL445074.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259150 chr15 26115813 26133037 + LINC00929 lincRNA 503519 0 0 0 0 0 0 0 0 0 ENSG00000259151 chr14 89290205 89291594 - CAP2P1 transcribed_processed_pseudogene 7 6 6 7 8 14 3 12 1 ENSG00000259152 chr15 27422381 27428338 + AC104002.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259153 chr14 70810205 70815403 + AC004816.1 lincRNA 100506411 0 0 0 0 0 0 0 0 0 ENSG00000259154 chrY 11314921 11316187 + DUX4L17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259155 chr14 49677369 49677893 + AL591767.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259156 chr15 20282744 20291586 + CHEK2P2 transcribed_unprocessed_pseudogene 646096 0 0 0 0 0 0 0 0 0 ENSG00000259157 chr14 51787461 51787743 + AL079307.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259158 chr14 70453541 70483775 - ADAM20P1 transcribed_unprocessed_pseudogene 317760 2 4 1 3 6 15 6 4 9 ENSG00000259160 chr14 64535702 64535879 - AL049869.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259161 chr14 101843394 101844122 - AL137779.3 processed_pseudogene 0 0 1 0 1 1 0 0 0 ENSG00000259162 chr14 20437982 20441268 + AL355075.5 transcribed_unprocessed_pseudogene 0 0 0 0 2 0 0 1 5 ENSG00000259163 chr14 90642638 90648894 + AL096869.2 antisense 101928909 1 2 1 0 0 2 0 0 0 ENSG00000259164 chr14 77098311 77225462 + AC007375.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259165 chr14 69083398 69085389 + DDX18P1 processed_pseudogene 5 5 7 10 9 14 9 9 28 ENSG00000259166 chr14 101447642 101457117 + AL049836.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259167 chr14 81032529 81033404 + NMNAT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259168 chr15 27483035 27541991 - AC104002.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259169 chr14 60398934 60400013 - GNRHR2P1 unprocessed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000259170 chr15 92470233 92471546 - AC090985.1 lincRNA 104613533 0 0 0 0 0 0 0 0 0 ENSG00000259171 chr14 20684587 20700576 + AL163636.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259172 chr15 101295419 101305737 + AC023024.1 antisense 1 1 9 7 4 0 0 0 0 ENSG00000259173 chr15 58755625 58756247 - AC090515.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259175 chr15 80554609 80562944 - AC108451.1 antisense 101929586 0 0 0 0 0 0 0 0 0 ENSG00000259177 chr15 90393490 90397881 - AC018946.1 antisense 1 1 2 1 0 2 0 2 2 ENSG00000259178 chr15 52082302 52086574 + AC023906.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259179 chr15 31420128 31420662 + UBE2CP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259180 chr15 55680385 55681463 + AC012378.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259181 chr15 34993646 35003221 + AC114546.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259182 chr15 101168530 101170821 + AC019254.1 lincRNA 32 24 36 21 30 33 33 35 20 ENSG00000259183 chr15 88143935 88144165 - MED28P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259185 chr15 51908902 51909642 - AC090971.1 antisense 185 164 194 47 101 71 89 97 89 ENSG00000259186 chr15 73483196 73483943 - MRPS15P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000259187 chr15 44826540 44827094 + AC122108.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259188 chr15 49879604 49883525 + AC025040.1 antisense 0 3 5 0 2 7 3 1 2 ENSG00000259191 chr15 69434466 69435120 - AC027237.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259192 chr15 38458760 38459540 - AC109631.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259194 chr15 51367377 51369110 + AC020891.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259195 chr15 85770990 85771163 + AC021739.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259196 chr8 28949676 28955955 + HMBOX1-IT1 sense_intronic 0 0 0 0 2 0 2 0 0 ENSG00000259198 chr15 40312615 40316634 + AC020658.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000259199 chr15 98046667 98293177 - AC022523.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259200 chr15 45705078 45931069 + AC068722.1 lincRNA 105370802 0 0 0 0 0 0 0 0 0 ENSG00000259201 chr15 51887560 51901123 - AC090971.2 antisense 68 81 71 23 35 16 42 42 15 ENSG00000259202 chr15 67142734 67146939 - AC012568.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259203 chr15 52801614 52804942 - AC016044.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259204 chr15 51064609 51069586 - AC073964.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259205 chr15 100553529 100558954 - PRKXP1 processed_pseudogene 7 14 25 26 22 14 27 14 8 ENSG00000259207 chr17 47253846 47311816 + ITGB3 protein_coding The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]. 3690 GO:0098978, GO:0098978, GO:0098978, GO:0071062, GO:0070062, GO:0045211, GO:0045202, GO:0043235, GO:0042470, GO:0035868, GO:0035867, GO:0035866, GO:0034683, GO:0032991, GO:0032587, GO:0031528, GO:0031527, GO:0031258, GO:0031092, GO:0009986, GO:0009986, GO:0009986, GO:0008305, GO:0008305, GO:0005925, GO:0005925, GO:0005925, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005654, GO:0005634, glutamatergic synapse, glutamatergic synapse, glutamatergic synapse, alphav-beta3 integrin-vitronectin complex, extracellular exosome, postsynaptic membrane, synapse, receptor complex, melanosome, alphav-beta3 integrin-HMGB1 complex, alphav-beta3 integrin-IGF-1-IGF1R complex, alphav-beta3 integrin-PKCalpha complex, integrin alphav-beta3 complex, protein-containing complex, ruffle membrane, microvillus membrane, filopodium membrane, lamellipodium membrane, platelet alpha granule membrane, cell surface, cell surface, cell surface, integrin complex, integrin complex, focal adhesion, focal adhesion, focal adhesion, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, nucleoplasm, nucleus, GO:0070051, GO:0050840, GO:0050839, GO:0043184, GO:0043184, GO:0042802, GO:0038132, GO:0031994, GO:0019960, GO:0019899, GO:0017134, GO:0015026, GO:0005515, GO:0005178, GO:0005178, GO:0005161, GO:0003756, GO:0002020, GO:0001968, GO:0001968, GO:0001618, fibrinogen binding, extracellular matrix binding, cell adhesion molecule binding, vascular endothelial growth factor receptor 2 binding, vascular endothelial growth factor receptor 2 binding, identical protein binding, neuregulin binding, insulin-like growth factor I binding, C-X3-C chemokine binding, enzyme binding, fibroblast growth factor binding, coreceptor activity, protein binding, integrin binding, integrin binding, platelet-derived growth factor receptor binding, protein disulfide isomerase activity, protease binding, fibronectin binding, fibronectin binding, virus receptor activity, GO:0099149, GO:0099149, GO:0099149, GO:0070527, GO:0060055, GO:0051611, GO:0050919, GO:0050900, GO:0050748, GO:0050731, GO:0048333, GO:0048010, GO:0046718, GO:0045124, GO:0043277, GO:0042060, GO:0038027, GO:0035295, GO:0034446, GO:0034113, GO:0033627, GO:0033627, GO:0032880, GO:0032369, GO:0032147, GO:0031589, GO:0030949, GO:0030198, GO:0030168, GO:0016477, GO:0014909, GO:0010888, GO:0010745, GO:0010595, GO:0007596, GO:0007229, GO:0007229, GO:0007229, GO:0007160, GO:0007160, GO:0007155, GO:0002576, GO:0001938, GO:0001934, regulation of postsynaptic neurotransmitter receptor internalization, regulation of postsynaptic neurotransmitter receptor internalization, regulation of postsynaptic neurotransmitter receptor internalization, platelet aggregation, angiogenesis involved in wound healing, regulation of serotonin uptake, negative chemotaxis, leukocyte migration, negative regulation of lipoprotein metabolic process, positive regulation of peptidyl-tyrosine phosphorylation, mesodermal cell differentiation, vascular endothelial growth factor receptor signaling pathway, viral entry into host cell, regulation of bone resorption, apoptotic cell clearance, wound healing, apolipoprotein A-I-mediated signaling pathway, tube development, substrate adhesion-dependent cell spreading, heterotypic cell-cell adhesion, cell adhesion mediated by integrin, cell adhesion mediated by integrin, regulation of protein localization, negative regulation of lipid transport, activation of protein kinase activity, cell-substrate adhesion, positive regulation of vascular endothelial growth factor receptor signaling pathway, extracellular matrix organization, platelet activation, cell migration, smooth muscle cell migration, negative regulation of lipid storage, negative regulation of macrophage derived foam cell differentiation, positive regulation of endothelial cell migration, blood coagulation, integrin-mediated signaling pathway, integrin-mediated signaling pathway, integrin-mediated signaling pathway, cell-matrix adhesion, cell-matrix adhesion, cell adhesion, platelet degranulation, positive regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, 1 8 0 0 6 1 0 2 0 ENSG00000259208 chr15 79668342 79668816 - AC023968.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259209 chr16 72805998 72809872 + AC004943.1 antisense 0 1 2 0 0 0 1 0 0 ENSG00000259211 chr15 40464193 40466726 - AC013356.2 antisense 46 44 40 39 38 31 24 19 29 ENSG00000259212 chr15 90595840 90596447 - AC103739.1 antisense 4 1 7 2 6 0 0 2 0 ENSG00000259213 chr15 77787193 77788674 + AC105133.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259214 chr15 20826454 20826640 - AC012414.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259215 chr15 69458522 69461806 - AC027237.2 lincRNA 1 0 1 0 0 0 0 0 0 ENSG00000259216 chr15 48725338 48725827 + AC084757.1 processed_pseudogene 3 0 0 2 0 0 1 2 2 ENSG00000259217 chr15 35774801 35774950 + AC068867.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259218 chr15 89505277 89524034 - LINC00928 lincRNA 283761 0 0 0 0 0 0 0 0 0 ENSG00000259219 chr15 99976481 99980774 + AC084855.2 antisense 105371022 0 0 0 3 0 0 0 0 0 ENSG00000259221 chr15 47359430 47396732 - AC023905.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259222 chr15 69080879 69099987 + AC027088.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259223 chr15 60073554 60118320 - AC009654.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259224 chr17 7481332 7483496 + SLC35G6 protein_coding 643664 GO:0016021, integral component of membrane, 0 0 0 4 6 8 1 3 3 ENSG00000259225 chr15 37984766 38062340 + LINC02345 lincRNA 101928227 2 3 7 3 4 0 0 1 2 ENSG00000259227 chr15 70602124 70602516 + AC087699.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259228 chr15 99284625 99285576 - HNRNPA1P62 processed_pseudogene 1 2 2 0 0 0 0 0 0 ENSG00000259229 chr15 79758549 79758762 - AC026826.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259230 chr14 102545254 102555826 + LINC02323 lincRNA 105370681 0 0 0 6 0 0 0 1 0 ENSG00000259231 chr15 44919376 44920820 + AC090888.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259232 chr15 65475318 65475614 - AC105129.1 processed_pseudogene 1 0 1 2 3 0 0 0 0 ENSG00000259234 chr15 79191707 79283945 - ANKRD34C-AS1 lincRNA 0 1 2 0 2 0 0 0 1 ENSG00000259235 chr15 48189037 48191691 - AC066612.1 lincRNA 1 1 0 1 0 1 1 0 1 ENSG00000259236 chr15 101771758 101781989 - GOLGA8VP unprocessed_pseudogene 0 0 1 1 0 0 5 0 0 ENSG00000259237 chr15 53116365 53129698 + LINC02490 lincRNA 105370822 0 0 0 0 0 0 0 0 0 ENSG00000259238 chr15 59688517 59689418 + AC092755.2 antisense 197 165 239 86 159 211 107 179 169 ENSG00000259239 chr15 40133768 40135214 - AC021755.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259240 chr15 51037488 51293912 + MIR4713HG lincRNA 109729174 0 0 0 0 0 0 0 0 0 ENSG00000259241 chr15 51693216 51695765 - AC020892.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000259242 chr19 19606350 19608660 + AC002306.1 antisense 0 0 3 0 0 0 0 0 2 ENSG00000259244 chr15 84513241 84526949 - AC048382.2 processed_transcript 0 0 1 0 0 0 0 0 0 ENSG00000259245 chr15 36046082 36049529 + AC040918.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259246 chr15 67000814 67001085 - HMGN2P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259247 chrY 22330452 22332500 + TTTY25P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259248 chr15 63544247 63601589 - USP3-AS1 antisense 669 742 1119 826 1109 1163 829 875 950 ENSG00000259250 chr15 58587507 58591676 + AC018904.1 antisense 35 24 37 25 28 33 17 14 12 ENSG00000259251 chr15 62060503 62062434 + AC104590.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000259252 chr15 70195638 70198509 - AC026583.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259254 chr15 40642933 40646857 + AC022405.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259255 chr15 46693288 46804844 + AC073941.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259256 chr18 3347776 3350559 - LINC01895 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259257 chr15 99337857 99338481 + AC037479.1 processed_pseudogene 1 0 0 2 0 0 2 0 1 ENSG00000259258 chr15 65105534 65105800 + AC013553.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259259 chr15 72899399 72900260 - NPM1P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259261 chr15 22184967 22185402 - IGHV4OR15-8 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000259262 chr15 90385814 90386063 + NDUFA3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259265 chr15 69037549 69043565 - AC027088.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259266 chr15 98118171 98118320 + AC022523.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259267 chr10 70939053 70955641 + AC073176.1 lincRNA 105378349 0 0 0 0 0 0 0 0 0 ENSG00000259268 chr15 63456294 63469351 - AC007950.1 lincRNA 3 2 15 6 2 0 0 2 5 ENSG00000259269 chr15 39472703 39481206 + AC109630.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259270 chr15 85178628 85178806 - AC044860.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259271 chr22 16671090 16679493 - ANKRD62P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259273 chr15 89936492 89937005 + AC027176.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259274 chr15 60529973 60545159 + AC107241.1 antisense 2 1 0 0 2 8 0 0 0 ENSG00000259275 chr15 96354237 96403803 + AC087477.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259276 chr15 85621264 85627689 - AC087286.1 antisense 1 0 0 0 0 0 0 1 2 ENSG00000259277 chr15 28970196 28977464 - AC127522.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259278 chr15 39019233 39024918 + AC087878.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259280 chr15 36876379 36887035 - AC018563.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259281 chr15 77660052 77668074 + LINGO1-AS2 antisense 101929478 0 0 0 0 0 0 0 0 0 ENSG00000259282 chr15 96772005 96783312 - SPATA8-AS1 antisense 100652749 0 0 0 0 0 0 0 0 0 ENSG00000259283 chr16 55259969 55333588 - AC109462.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259284 chr15 61729850 61731389 + LINC02349 lincRNA 100506530 0 0 0 0 0 0 0 0 0 ENSG00000259285 chr15 58065225 58071043 + AC025431.1 antisense 0 2 0 0 0 0 0 3 0 ENSG00000259286 chr15 68833830 68834749 + AC087639.1 processed_pseudogene 0 0 0 5 0 0 2 0 0 ENSG00000259287 chr15 33858602 33864825 - AC010809.1 antisense 0 0 2 1 5 4 7 1 3 ENSG00000259288 chr15 40217428 40276396 + BUB1B-PAK6 protein_coding 0 0 0 3 0 0 0 0 0 ENSG00000259289 chr15 66931537 66956518 - LINC02206 lincRNA 102723481 0 0 0 0 0 0 0 0 0 ENSG00000259290 chr11 125188115 125191404 + AP001007.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259291 chr15 90074512 90082207 - ZNF710-AS1 antisense 109729181 207 293 312 217 373 272 221 267 245 ENSG00000259293 chr15 58434890 58498735 - LIPC-AS1 antisense 101928694 13 12 10 4 5 4 18 8 3 ENSG00000259294 chr7 101822247 101824729 - AC005096.1 antisense 1 6 7 4 2 7 2 4 1 ENSG00000259295 chr15 85191438 85213905 + CSPG4P12 transcribed_unprocessed_pseudogene 440300 0 0 0 0 1 2 0 0 0 ENSG00000259296 chr15 51707995 51715220 - AC020892.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259298 chr15 50497195 50498744 - AC012170.2 antisense 130 103 177 124 127 146 95 70 81 ENSG00000259299 chr15 29233673 29235137 - AC061965.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259300 chr15 29612570 29614274 + TUBBP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259301 chr15 53837271 53837560 - AC084759.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259302 chr15 84505463 84505495 + AC048382.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259303 chr16 32847713 32848156 + IGHV2OR16-5 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000259304 chr15 44970035 44971178 - AC090888.2 processed_pseudogene 1 1 2 0 2 0 0 1 0 ENSG00000259305 chr8 123226189 123274284 - ZHX1-C8orf76 protein_coding This locus represents naturally occurring read-through transcription between the neighboring zinc fingers and homeoboxes 1 (ZHX1) and chromosome 8 open reading frame 76 (C8orf76) genes. The read-through transcript encodes a protein that shares sequence identity with the downstream gene, but it has a distinct N-terminus encoded by exon structure from the upstream gene. [provided by RefSeq, Feb 2011]. 100533106 GO:0005515, protein binding, 0 0 1 0 0 0 0 0 0 ENSG00000259306 chr15 51315841 51321996 + AC020891.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259307 chr15 40300670 40301820 + PLCB2-AS1 antisense 23 18 20 8 26 12 16 15 9 ENSG00000259308 chr15 83044368 83044771 + AC024270.1 processed_pseudogene 1 0 0 0 3 1 0 0 0 ENSG00000259309 chr15 69820756 69835111 - AC021818.1 lincRNA 8 6 12 2 9 1 6 4 0 ENSG00000259312 chr15 96438570 96444266 + AC087477.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259314 chr15 90604225 90614558 - AC103739.2 antisense 7 4 8 7 6 5 1 0 17 ENSG00000259315 chr15 82725873 82738904 - ACTG1P17 transcribed_processed_pseudogene 283693 0 0 4 1 0 0 0 2 7 ENSG00000259316 chr15 64181180 64381440 - AC087632.1 protein_coding 0 0 1 6 3 1 0 0 0 ENSG00000259317 chr15 85272527 85272974 + AC044860.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259318 chr14 55394940 55395233 - AL356801.1 processed_pseudogene 0 0 1 6 0 4 0 2 0 ENSG00000259319 chr14 75423683 75427741 - AF111167.2 antisense 13 18 21 10 12 13 11 5 4 ENSG00000259320 chr15 98122563 98131607 - AC022523.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259321 chr14 24139445 24140444 + AL136295.2 lincRNA 86 32 43 37 27 33 39 42 27 ENSG00000259322 chr15 78293286 78296049 + AC090607.1 antisense 7 3 0 2 5 5 4 9 1 ENSG00000259324 chr15 21595684 21596526 - OR11K1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259326 chr15 38502853 38504981 + AC116158.1 antisense 12 11 17 35 7 27 32 6 17 ENSG00000259327 chr15 52116574 52122131 + AC023906.3 lincRNA 4 4 9 11 2 8 11 2 18 ENSG00000259330 chr15 40323664 40326715 + INAFM2 protein_coding 100505573 GO:0016021, integral component of membrane, GO:0005246, calcium channel regulator activity, 435 499 404 81 255 173 151 284 135 ENSG00000259331 chr15 94600014 94600821 + AC009432.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259332 chr15 79845150 79923754 - ST20-MTHFS protein_coding This locus represents naturally occurring read-through transcription between the neighboring suppressor of tumorigenicity 20 and 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) genes on chromosome 15. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]. 100528021 58 47 73 25 33 17 17 24 18 ENSG00000259333 chr17 63900643 63900879 + AC127029.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259334 chr14 23922247 23934568 - LINC00596 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259335 chr15 44447577 44449344 - HNRNPMP1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000259336 chr15 35099022 35169698 - AC021231.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259337 chr15 19972782 19973218 - IGHV1OR15-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259338 chr15 45215547 45215943 + AC051619.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259339 chr19 46136746 46137547 - TGIF1P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000259340 chr15 96551381 96551517 + AC110588.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259341 chr15 99427009 99431028 - AC015660.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259342 chr15 45430652 45441808 - AC025580.1 antisense 19 22 42 58 92 194 147 155 211 ENSG00000259343 chr15 81324377 81518200 + TMC3-AS1 antisense 5 7 3 9 22 14 6 10 11 ENSG00000259345 chr15 38865322 39427195 - AC013652.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000259346 chr15 65301922 65302311 + AC105129.2 processed_pseudogene 1 0 0 0 1 0 0 0 0 ENSG00000259347 chr15 66984108 67065268 - AC087482.1 antisense 0 0 0 0 0 3 0 0 0 ENSG00000259349 chr17 60526293 60550798 + AC011921.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259350 chr15 88952683 88953460 + AC067805.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259351 chr15 63928274 63935953 + AC015914.1 antisense 101928988 93 130 158 34 92 91 57 98 105 ENSG00000259352 chr15 45073492 45074048 - AC091117.1 antisense 12 19 35 1 10 15 6 11 8 ENSG00000259353 chr15 58856831 58865063 - AC090515.4 antisense 21 12 12 23 15 38 24 16 6 ENSG00000259354 chr15 45448427 45513767 + AC025580.2 antisense 1 8 16 5 6 63 19 21 37 ENSG00000259356 chr15 100126106 100129743 + AC022710.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259357 chr1 150965245 150966256 + AL590133.2 antisense 633 667 758 302 649 467 383 573 400 ENSG00000259358 chr15 31765743 31768201 - AC026951.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259359 chr15 96171581 96174339 + AC012409.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000259360 chr15 47397501 47399554 - AC009558.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259361 chr15 80263068 80341805 - LINC00927 lincRNA 283688 0 0 0 0 0 0 0 0 0 ENSG00000259362 chr15 77525540 77534110 + AC046168.1 lincRNA 101929457 0 0 0 0 0 0 0 0 0 ENSG00000259363 chr15 99807023 99877148 + AC090825.1 lincRNA 1 1 10 6 3 5 6 7 5 ENSG00000259364 chr15 40453444 40454639 - AC013356.3 antisense 0 1 0 2 4 2 0 0 1 ENSG00000259365 chr15 101116603 101117546 + AC019254.2 lincRNA 1 2 4 1 7 0 0 2 1 ENSG00000259366 chr8 29055935 29056685 + AC108449.2 sense_intronic 24 33 23 20 41 18 13 26 25 ENSG00000259367 chr15 85619623 85670948 - AC087286.2 antisense 1 1 0 0 0 0 10 0 0 ENSG00000259368 chr15 40368925 40369640 - AC013356.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259369 chr15 55746639 55746767 + AC009997.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259370 chr15 62827675 62884034 - AC103740.1 antisense 105370854 0 0 0 4 0 0 0 0 0 ENSG00000259371 chr14 24120956 24131829 + AL136295.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259374 chr14 103139675 103141959 + NDUFB4P11 transcribed_processed_pseudogene 0 0 0 9 11 12 11 4 15 ENSG00000259375 chr15 85579046 85580178 - AC087286.3 antisense 426 527 676 75 178 238 124 144 226 ENSG00000259376 chr15 101043716 101049456 - AC090907.1 antisense 14 11 6 17 19 10 10 8 1 ENSG00000259377 chr15 51752485 51756475 + AC026770.1 sense_intronic 2 0 7 0 1 4 2 0 0 ENSG00000259378 chr15 50944663 50945996 + DCAF13P3 processed_pseudogene 2 4 1 4 2 0 7 9 0 ENSG00000259379 chr15 58152606 58154407 + MTND5P32 processed_pseudogene 74 112 134 23 66 122 137 65 224 ENSG00000259380 chr15 38139595 38226887 - AC087473.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259381 chr15 100645434 100646655 - AC090695.1 processed_pseudogene 1 5 2 9 4 8 8 5 3 ENSG00000259383 chr15 20759311 20774794 - AC012414.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259384 chr17 63917200 63918838 - GH1 protein_coding The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]. 2688 GO:0070195, GO:0062023, GO:0031904, GO:0005615, GO:0005615, GO:0005576, growth hormone receptor complex, collagen-containing extracellular matrix, endosome lumen, extracellular space, extracellular space, extracellular region, GO:0046872, GO:0008083, GO:0008083, GO:0005515, GO:0005179, GO:0005148, GO:0005148, GO:0005131, GO:0005131, GO:0005131, metal ion binding, growth factor activity, growth factor activity, protein binding, hormone activity, prolactin receptor binding, prolactin receptor binding, growth hormone receptor binding, growth hormone receptor binding, growth hormone receptor binding, GO:0070977, GO:0060397, GO:0060396, GO:0060396, GO:0050731, GO:0048513, GO:0046427, GO:0046427, GO:0045927, GO:0043568, GO:0043406, GO:0042531, GO:0042531, GO:0040018, GO:0040018, GO:0032355, GO:0031667, GO:0014068, GO:0010828, GO:0010536, GO:0002092, bone maturation, growth hormone receptor signaling pathway via JAK-STAT, growth hormone receptor signaling pathway, growth hormone receptor signaling pathway, positive regulation of peptidyl-tyrosine phosphorylation, animal organ development, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of growth, positive regulation of insulin-like growth factor receptor signaling pathway, positive regulation of MAP kinase activity, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of multicellular organism growth, positive regulation of multicellular organism growth, response to estradiol, response to nutrient levels, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of glucose transmembrane transport, positive regulation of activation of Janus kinase activity, positive regulation of receptor internalization, 0 0 0 0 0 0 0 0 0 ENSG00000259385 chr15 48192191 48201684 - AC066612.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259388 chr15 49794246 49796097 + AC025040.2 processed_pseudogene 0 0 0 0 0 3 0 0 1 ENSG00000259389 chr15 39951375 39951708 - H3F3AP1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000259390 chr15 39512335 39519954 - AC022196.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259392 chr15 32836983 32837326 - AC090877.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259393 chr15 58967046 58967808 - AC025918.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259394 chr15 62953173 62954124 + AC079328.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259395 chr15 36341739 36344166 + AC087516.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259396 chr15 41343080 41344225 + AC087721.1 sense_intronic 1 0 0 0 0 0 0 0 0 ENSG00000259397 chr15 35092481 35093210 + AC021231.2 processed_pseudogene 1 0 0 0 0 1 0 1 0 ENSG00000259398 chr15 52033707 52035625 + AC090970.1 sense_intronic 0 0 0 3 2 10 10 0 0 ENSG00000259399 chr20 36574553 36612384 + TGIF2-RAB5IF protein_coding This locus represents naturally occurring read-through transcription between the neighboring TGIF2 (TGFB-induced factor homeobox 2) and C20orf24 (chromosome 20 open reading frame 24) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]. 100527943 0 0 0 0 0 0 0 0 0 ENSG00000259402 chr15 58815272 58817728 + AC090515.5 sense_intronic 0 2 0 6 0 0 0 0 0 ENSG00000259403 chr15 97272177 97319288 - AC020704.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259404 chr15 84080168 84126604 + EFL1P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259405 chr15 40948736 40948869 - ISCA1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259407 chr15 85744109 85750281 - AC021739.2 antisense 391 417 501 322 389 454 284 274 341 ENSG00000259408 chr15 33851785 33856809 - AC010809.2 antisense 2 0 0 0 0 1 2 0 1 ENSG00000259409 chr15 40088832 40089386 + BMF-AS1 antisense 24 35 107 35 33 34 21 34 23 ENSG00000259410 chr15 67832725 67873866 + AC009292.2 processed_transcript 0 0 0 0 2 0 0 0 0 ENSG00000259411 chr15 35400691 35401768 + HNRNPA1P45 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000259413 chr15 78382573 78383155 + AC011270.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259414 chr15 23289303 23293667 - AC242376.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259415 chr15 84753122 84754502 + AC012291.1 sense_intronic 1 2 0 0 0 0 0 0 0 ENSG00000259416 chr15 85754941 85756237 - AC021739.3 antisense 1 0 1 0 0 0 2 0 0 ENSG00000259417 chr15 80195484 80252213 - CTXND1 protein_coding 100996492 GO:0016021, integral component of membrane, 0 1 0 1 1 2 1 2 0 ENSG00000259418 chr15 45041716 45058707 - AC091117.2 antisense 2 2 3 8 0 0 4 7 0 ENSG00000259419 chr15 79236332 79237206 + HNRNPCP3 processed_pseudogene 0 2 2 0 2 0 0 0 1 ENSG00000259420 chr15 77568970 77608888 + AC046168.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259421 chr22 39070414 39070671 + AL022318.2 unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000259422 chr15 76174891 76181486 - AC091100.1 antisense 101929439 0 0 0 6 0 0 0 0 0 ENSG00000259423 chr15 39167739 39180048 + AC113146.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259424 chr15 98646951 98647371 - IRAIN antisense 0 0 2 0 1 0 0 1 0 ENSG00000259425 chr15 22770523 22776199 - AC011767.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000259426 chr15 69396904 69415029 - AC027237.3 antisense 145694 0 3 2 0 6 1 0 0 0 ENSG00000259427 chr15 45566776 45567074 + DPPA5P2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259428 chr14 103364239 103364820 - HMGB3P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259429 chr15 82355142 82420075 + UBE2Q2P2 transcribed_unprocessed_pseudogene 100134869 0 1 0 0 0 0 1 0 0 ENSG00000259430 chr15 100372939 100437914 + CERS3-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259431 chr14 23555988 23560271 + THTPA protein_coding This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]. 79178 GO:0005829, cytosol, GO:0050333, GO:0050333, GO:0016787, GO:0005515, GO:0000287, GO:0000287, thiamin-triphosphatase activity, thiamin-triphosphatase activity, hydrolase activity, protein binding, magnesium ion binding, magnesium ion binding, GO:0042723, GO:0042357, GO:0042357, GO:0016311, GO:0016311, GO:0006772, GO:0006091, thiamine-containing compound metabolic process, thiamine diphosphate metabolic process, thiamine diphosphate metabolic process, dephosphorylation, dephosphorylation, thiamine metabolic process, generation of precursor metabolites and energy, 5 2 12 8 6 2 6 3 7 ENSG00000259432 chr15 39813223 39815429 - AC023908.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259433 chr15 45330209 45332634 - AC051619.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259434 chr15 37365027 37490808 - AC068875.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259435 chr15 22125511 22126434 + OR4N3P transcribed_unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390539 0 0 0 0 0 0 0 0 0 ENSG00000259436 chr19 42152569 42157523 + AC010247.2 antisense 6 3 13 2 11 5 13 5 3 ENSG00000259437 chr15 66919811 66931755 + AC093334.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259438 chr15 52010999 52019095 - MAPK6-DT lincRNA 112543478 0 1 0 54 35 43 62 44 56 ENSG00000259439 chr2 44921077 44939199 - LINC01833 lincRNA 107985879 GO:0010468, regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000259440 chr15 73161779 73162928 - NPM1P43 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000259441 chr15 89752296 89753493 + MRPL15P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259442 chr15 82744223 82750289 + AC105339.3 antisense 1 1 3 2 0 0 0 1 3 ENSG00000259443 chr15 20773084 20774871 + AC012414.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259444 chr14 103094723 103098885 + AL161669.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000259445 chr15 81953303 81995666 - AC025219.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259446 chr15 33303657 33310659 - AC055874.1 antisense 101928134 0 0 0 0 0 0 0 0 0 ENSG00000259447 chr15 39300418 39310782 - AC013652.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259448 chr15 31216020 31224445 + LINC02352 lincRNA 2 0 7 0 0 3 0 1 0 ENSG00000259449 chr15 85181210 85182083 - NIFKP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259452 chr15 70791013 70791486 + AC009269.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259453 chr15 85701109 85702771 + AC087286.4 sense_intronic 0 5 5 2 10 9 7 10 8 ENSG00000259454 chr15 101887354 101887767 - WBP1LP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259456 chr20 50930984 50945134 + ADNP-AS1 antisense 101927631 33 49 47 44 60 43 41 42 34 ENSG00000259457 chr15 69564724 69565790 - AC100826.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259458 chr15 62637172 62645291 - MGC15885 antisense 197003 0 0 0 0 0 0 0 0 0 ENSG00000259459 chr15 63390136 63438320 + LINC02568 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000259460 chr15 37099339 37100173 + AC078909.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259461 chr15 81117635 81118340 - ANP32BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259462 chr15 82647770 82692820 + CPEB1-AS1 antisense 283692 0 0 0 0 0 0 0 0 0 ENSG00000259463 chr15 41011597 41013300 + AC020661.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259464 chr15 101562536 101562974 + SNRPCP18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259465 chr15 50417385 50418692 + AHCYP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259466 chr15 62082450 62083305 - NPM1P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259467 chr15 49156329 49156847 + NDUFAF4P1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000259468 chr15 34255286 34257832 + AC079203.2 antisense 311 401 508 91 179 158 140 166 159 ENSG00000259469 chr15 48729080 48729844 - AC084757.2 lincRNA 0 0 0 0 0 0 0 2 0 ENSG00000259470 chr15 70858714 70860162 + KRT8P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259471 chr15 66582190 66685794 + LINC01169 lincRNA 102723165 0 0 1 0 0 1 0 0 0 ENSG00000259473 chr15 70503907 70505928 - LINC02205 lincRNA 105370880 1 3 3 0 0 0 3 1 0 ENSG00000259474 chr15 78480057 78481820 - AC027228.1 antisense 1 0 0 1 2 1 0 0 1 ENSG00000259475 chr15 98954149 99105824 - AC036108.1 antisense 17 15 18 14 24 25 28 13 17 ENSG00000259476 chr15 58521311 58523371 + AC018904.2 sense_intronic 2 1 1 3 2 3 14 1 12 ENSG00000259477 chr15 57979716 57980646 - AC012653.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259478 chr15 97982509 97991142 - AC024651.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259479 chr15 44825747 44884694 - SORD2P transcribed_unprocessed_pseudogene 653381 5 0 14 0 0 0 2 2 1 ENSG00000259481 chr15 61181249 61195938 + AC012404.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259482 chr15 60681569 60686888 + RORA-AS2 antisense 100996876 0 0 0 0 0 0 0 0 0 ENSG00000259483 chr14 56303490 56310761 - AL355073.1 lincRNA 1 6 1 4 0 0 3 6 0 ENSG00000259485 chr15 97295881 97432094 + LINC02253 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259488 chr15 48312353 48331856 - AC023355.1 antisense 27 13 31 59 37 34 32 27 20 ENSG00000259489 chr15 88960070 88961046 + KRT18P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259490 chr15 19987656 19988117 - IGHV3OR15-7 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000259493 chr15 79559256 79560304 - AC023968.2 processed_pseudogene 0 0 0 0 0 0 4 0 1 ENSG00000259494 chr15 88459476 88467419 - MRPL46 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. 26589 GO:0030054, GO:0005762, GO:0005762, GO:0005743, GO:0005739, GO:0005654, cell junction, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, nucleoplasm, GO:0016787, GO:0003735, GO:0003674, hydrolase activity, structural constituent of ribosome, molecular_function, GO:0070126, GO:0070125, GO:0008150, mitochondrial translational termination, mitochondrial translational elongation, biological_process, 8 1 8 8 0 4 4 1 1 ENSG00000259495 chr15 80344853 80403575 - AC016705.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259496 chr15 69803316 69804046 - AC021818.2 processed_pseudogene 8 8 5 0 8 1 1 2 1 ENSG00000259498 chr15 63046034 63049387 - TPM1-AS antisense 4 2 2 3 8 7 10 6 1 ENSG00000259499 chr15 44387320 44390451 - AC090519.2 lincRNA 3 1 2 0 3 0 2 1 0 ENSG00000259500 chr15 48971803 48973361 + KRT8P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259502 chr14 67610986 67613864 + AL132640.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259503 chr15 70321576 70326742 + AC048383.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259504 chr15 69278675 69295322 + AC026992.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259505 chr15 33990686 33992048 + AC009268.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000259507 chr15 98466840 98467412 + AC103968.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259508 chr14 102770040 102774791 - AL132801.1 lincRNA 0 2 1 1 2 0 0 2 3 ENSG00000259509 chr15 46827526 46827958 + AC073941.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259511 chr15 84172490 84182234 + UBE2Q2L protein_coding 100505679 0 0 0 0 0 0 0 0 0 ENSG00000259512 chr15 67627852 67629135 + HNRNPA1P5 processed_pseudogene 0 0 0 0 1 1 0 1 0 ENSG00000259513 chr15 60558080 60558401 + CYCSP38 transcribed_processed_pseudogene 0 2 0 2 0 0 0 0 0 ENSG00000259514 chr15 76339609 76342063 - AC027243.1 antisense 27 22 25 11 29 21 11 25 13 ENSG00000259515 chr14 102933574 102937177 + AL117209.1 antisense 0 0 1 1 0 4 0 2 0 ENSG00000259516 chr15 35181799 35238197 + ANP32AP1 transcribed_processed_pseudogene 22 19 23 22 15 21 15 23 25 ENSG00000259517 chr16 54245544 54270879 - LINC02169 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259518 chr15 82088594 82097694 + LINC01583 lincRNA 101929690 0 0 0 0 0 0 0 0 0 ENSG00000259519 chr15 45170344 45199958 + AC051619.4 antisense 0 0 0 0 0 0 1 0 0 ENSG00000259520 chr15 45251580 45279251 - AC051619.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259521 chr15 41016807 41027893 + INO80-AS1 antisense 7 11 9 6 7 7 7 5 5 ENSG00000259522 chr14 24180395 24190416 - AL136295.4 protein_coding 1 0 0 1 0 0 0 0 0 ENSG00000259523 chr15 29822631 29824081 + AC022613.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259525 chr14 103184204 103185039 + GCSHP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259527 chr15 87576929 87579866 + LINC00052 lincRNA 145978 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000259528 chr15 73255334 73256109 - AC068397.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259529 chr14 24151218 24167402 + AL136295.5 protein_coding 88 76 117 55 78 71 88 67 56 ENSG00000259530 chr15 61598514 61605241 + AC104574.1 lincRNA 101928850 0 0 0 0 0 0 0 0 0 ENSG00000259531 chr15 49365124 49366685 - AC022306.1 processed_pseudogene 0 0 0 1 0 1 4 1 0 ENSG00000259532 chr15 70748932 70754177 + AC009269.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259533 chr17 63885851 63886051 + AC040958.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259534 chr15 96448842 96449749 + AC087477.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259535 chr14 103148597 103149408 + RPL21P12 processed_pseudogene 0 2 1 0 0 3 0 0 0 ENSG00000259536 chr15 40488041 40558019 + AC091045.1 antisense 99 106 131 56 61 53 57 55 95 ENSG00000259538 chr15 84412773 84421837 - UBE2Q2P11 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259539 chr15 45152664 45167526 - AC051619.6 3prime_overlapping_ncRNA 0 0 0 0 0 1 4 0 0 ENSG00000259540 chr15 100558677 100559798 + AC027020.1 antisense 102723335 2 6 5 3 5 2 8 5 7 ENSG00000259541 chr11 120249759 120265932 - AP001150.1 antisense 649133 0 0 0 0 0 0 0 0 0 ENSG00000259542 chr15 96393146 96405189 - AC087477.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259543 chr15 81427448 81755217 + AC060809.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259544 chr15 85726115 85727227 - AC021739.4 antisense 221 336 400 94 123 165 164 87 185 ENSG00000259545 chr15 49177610 49178741 - AC013452.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259546 chr15 80896190 80948867 - AC027808.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259547 chr15 41108878 41109178 + CYCSP2 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000259548 chr15 79832466 79833554 - AC021483.1 lincRNA 7 13 16 5 8 14 15 7 14 ENSG00000259550 chr15 54320731 54321565 - HNRNPA1P74 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259551 chr15 84500378 84502381 + AC048382.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259553 chr15 101959848 101961408 - AC140725.1 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000259554 chr15 47274183 47275164 + AC084882.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259555 chr15 78625895 78628193 + AC067863.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259556 chr15 51919073 51930627 - AC090971.3 unprocessed_pseudogene 17 30 19 25 55 33 33 43 42 ENSG00000259557 chr15 62362029 62362331 - HMGN1P26 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259558 chr15 60053204 60054092 - MESTP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259560 chr15 87432058 87703852 - AC020687.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259561 chr15 89704665 89705415 + AC079075.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259562 chr15 78290527 78291221 - AC090607.2 transcribed_processed_pseudogene 2 3 0 4 4 8 1 5 0 ENSG00000259563 chr15 44516650 44517483 - AC025430.1 antisense 2 1 4 0 2 0 2 2 0 ENSG00000259564 chr15 61834682 61935738 + AC009554.1 antisense 11 9 24 18 10 21 14 6 8 ENSG00000259565 chr15 76979245 76980451 - KRT8P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259569 chr15 88568287 88568562 + AC013489.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259570 chr15 84394512 84395514 + AC243562.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259571 chr11 122115354 122116215 - BLID protein_coding This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]. 414899 GO:0005829, GO:0005739, cytosol, mitochondrion, GO:0003674, molecular_function, GO:0043280, GO:0006915, positive regulation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000259572 chr15 47803384 47846236 - LINC01491 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259573 chr15 59964942 59966084 + NMNAT1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259575 chr15 61211913 61214231 + AC012404.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259577 chr15 52180093 52205874 + CERNA1 lincRNA 6 4 2 8 6 14 2 6 5 ENSG00000259579 chr15 100716249 100828497 + AC087762.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259580 chr15 39770559 39801333 - AC023908.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259581 chr15 76258986 76261690 - TYRO3P processed_pseudogene 4 0 1 2 0 6 2 0 0 ENSG00000259582 chr15 97540597 97560702 - AC026523.1 lincRNA 101927310 0 0 0 0 0 0 0 0 0 ENSG00000259583 chr15 100892859 100919283 - AC015712.2 antisense 101927751 1 2 1 5 0 0 0 0 2 ENSG00000259584 chr15 40075204 40078704 - AC021755.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259585 chr15 35298249 35299440 - RBM17P4 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000259586 chr15 100846604 100846767 - AC015712.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259587 chr15 35008469 35011191 + AC114546.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259588 chr15 47603880 47606352 - AC012050.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259589 chr15 63675146 63713758 + AC073167.1 antisense 86 78 138 52 30 44 52 37 42 ENSG00000259590 chr15 99395179 99396593 - LINC02244 lincRNA 1 0 0 0 0 0 1 0 0 ENSG00000259591 chr15 60763906 60765625 + AC022898.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259592 chr15 35121573 35122084 - PRELID1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259593 chr15 46341354 46341599 + MTND5P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259594 chr15 81554003 81696780 + AC023034.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259595 chr15 44402685 44427144 - AC025043.1 antisense 266 213 285 47 73 86 95 89 98 ENSG00000259598 chr15 38524070 38534655 + AC116158.2 antisense 0 0 0 1 0 6 0 0 0 ENSG00000259600 chr15 58151033 58152513 + AC066616.2 processed_pseudogene 45 94 109 10 33 114 83 87 205 ENSG00000259601 chr15 59871511 59873495 - AC092079.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259602 chr15 48938236 48948031 + AC091073.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259603 chr5 3596211 3600188 - AC016595.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259604 chr15 100861843 100874369 + AC015712.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259605 chr19 45764785 45769806 + AC074212.1 processed_transcript 0 0 0 0 3 4 6 0 0 ENSG00000259607 chr8 29067279 29068454 + AC108449.3 antisense 7 11 12 7 9 6 6 5 6 ENSG00000259608 chr15 85958717 85958971 - AC104229.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259609 chr15 84053113 84080097 - AC027807.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259610 chr15 81633887 81642190 - AC023034.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259611 chr15 98085627 98103712 - LINC01582 lincRNA 101927332 0 0 0 0 0 0 0 0 0 ENSG00000259612 chr15 52937139 52938518 - EEF1A1P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259614 chr15 96388214 96389056 - AC087477.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259615 chr15 89579765 89582297 - AC013391.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259616 chr15 61298791 61635449 - AC104574.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259617 chr15 40999274 41004865 + AC020661.3 antisense 0 0 2 0 2 0 0 0 0 ENSG00000259618 chr15 50494018 50497080 - AC012170.3 lincRNA 73 45 70 41 61 53 43 34 31 ENSG00000259619 chr15 54048588 54050876 - AC010867.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259620 chr15 86938797 86988426 - AC016987.1 antisense 102724452 0 0 0 0 0 0 0 0 0 ENSG00000259621 chr15 98880659 98893535 - AC069029.1 antisense 0 0 0 3 0 4 3 1 0 ENSG00000259622 chr15 82010212 82010607 - AC026956.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259623 chr17 41848518 41851447 - AC125257.1 sense_overlapping 12 12 18 18 34 48 23 22 25 ENSG00000259624 chr15 70768011 70778868 - AC009269.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259626 chr15 58150635 58150962 + MTND3P12 processed_pseudogene 9 13 22 1 7 13 18 18 45 ENSG00000259627 chr15 63070025 63071911 - AC079328.2 antisense 1 1 2 7 4 2 1 5 0 ENSG00000259628 chr7 77043721 77198626 + AC007000.3 processed_transcript 20 8 16 5 8 0 5 1 0 ENSG00000259630 chr15 85415228 85415633 + AC104046.1 transcribed_processed_pseudogene 0 0 0 1 1 4 0 4 8 ENSG00000259631 chr8 122977026 122985629 - AC104316.2 lincRNA 0 4 0 0 0 0 0 0 0 ENSG00000259632 chr15 51859185 51861293 - AC090971.4 processed_pseudogene 0 2 0 0 1 0 0 0 0 ENSG00000259633 chr15 84255913 84256014 + UBE2Q2P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259635 chr15 64701248 64719602 + AC100830.1 antisense 39 50 78 8 16 7 18 5 8 ENSG00000259636 chr15 86932880 86946331 + AC016987.2 sense_intronic 105370954 0 0 0 0 0 0 0 0 0 ENSG00000259637 chr15 82531653 82534139 - DNM1P38 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259639 chr15 35939167 36252257 - AC021351.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259642 chr15 79922771 79926993 + ST20-AS1 antisense 1172 1079 1410 434 726 712 586 681 683 ENSG00000259644 chr15 29728186 29729531 - AC022613.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259645 chr15 69391192 69392149 + AC027237.4 sense_intronic 0 2 0 0 0 0 0 0 0 ENSG00000259646 chr15 101903154 101903204 + AC140725.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259647 chr15 30005443 30045848 - AC111152.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259648 chr14 67614929 67616626 + AL132640.2 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000259649 chr15 80896191 80909777 - AC027808.2 antisense 0 0 0 0 0 0 4 1 0 ENSG00000259650 chr15 73335260 73342387 + AC068397.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259651 chr15 58150275 58150563 + MTCO3P23 processed_pseudogene 20 27 44 6 8 18 36 8 38 ENSG00000259652 chr15 77043680 77045160 + AC090181.1 lincRNA 9 16 3 30 58 42 42 41 7 ENSG00000259654 chr15 84685884 84686946 + AC115102.1 antisense 2 6 2 5 5 0 12 1 3 ENSG00000259655 chr15 99791127 99792847 + AC090825.2 unprocessed_pseudogene 2 0 0 1 0 0 13 0 0 ENSG00000259656 chr15 49101791 49103264 + AC013452.2 lincRNA 0 3 0 0 0 0 0 0 0 ENSG00000259657 chr15 59676757 59677321 + PIGHP1 processed_pseudogene 14 27 13 44 75 117 71 81 57 ENSG00000259658 chr15 101732201 101746870 - AC027559.1 transcribed_unprocessed_pseudogene 100128108 2 5 3 14 7 5 5 1 2 ENSG00000259659 chr15 44557829 44559188 + AC009996.1 sense_intronic 2 6 4 18 12 9 19 12 20 ENSG00000259660 chr15 101751032 101794302 + DNM1P47 transcribed_unprocessed_pseudogene 1 3 3 6 3 0 7 0 3 ENSG00000259661 chr15 90920218 90921186 - AC068831.4 antisense 1008 973 1459 692 926 1197 793 818 902 ENSG00000259663 chr5 51372736 51383332 - AC010478.1 antisense 642366 0 0 0 0 0 0 0 0 0 ENSG00000259664 chr15 97370371 97521811 - LINC02254 lincRNA 101927286 0 0 0 0 0 0 0 0 0 ENSG00000259665 chr15 35081144 35081513 + AC021231.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259666 chr15 77641764 77652288 + LINGO1-AS1 antisense 253044 0 0 0 0 0 0 0 0 0 ENSG00000259668 chr15 51457286 51460582 + AC066613.1 antisense 416 333 461 414 478 609 543 324 401 ENSG00000259669 chr15 53947624 53976908 - AC084759.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259670 chr15 48783190 48784121 + AC012379.1 antisense 7 4 2 5 1 5 0 2 4 ENSG00000259671 chr15 58154960 58156061 + MTCYBP23 processed_pseudogene 24 78 93 8 43 83 64 43 93 ENSG00000259672 chr15 63091367 63110589 + AC087612.1 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000259673 chr15 67403619 67521844 - IQCH-AS1 lincRNA 100506686 6 7 13 3 6 12 13 2 10 ENSG00000259674 chr15 59406963 59408154 - AC092868.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259675 chr15 61639349 61715171 - AC018618.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259676 chr15 88797413 88798734 - AC103982.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259677 chr15 89876540 89877285 + AC027176.2 processed_pseudogene 0 4 2 0 0 7 5 3 4 ENSG00000259678 chr15 51414097 51498833 + AC066613.2 antisense 405 352 416 370 510 380 465 271 394 ENSG00000259680 chr16 33844784 33845229 - AC136428.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259681 chr15 45558598 45562877 + AC090527.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259682 chr15 64470253 64471364 + AC091231.1 sense_intronic 0 0 0 0 0 1 0 2 0 ENSG00000259683 chr15 84389729 84395903 + AC243562.2 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000259684 chr15 50557601 50560500 + AC084756.1 antisense 6 5 3 17 5 5 3 3 7 ENSG00000259685 chr15 90102649 90133445 + IDH2-DT lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000259686 chr15 33012119 33013068 + HNRNPA1P71 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259687 chr14 75294404 75296638 + LINC01220 lincRNA 15 16 14 9 6 23 6 16 45 ENSG00000259688 chr15 35396221 35396444 + AC019288.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259690 chr15 29373602 29376956 - AC107980.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259691 chr15 73143236 73143518 - FKBP1AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259692 chr15 81660482 81871125 - AC104041.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259694 chr15 84171178 84173194 - AC136698.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259695 chr15 101580893 101581556 - AC090164.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259696 chr15 31453201 31454139 - AC104759.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259697 chr15 62196145 62203318 - AC126323.2 lincRNA 107984784 GO:0005686, U2 snRNP, GO:0045131, pre-mRNA branch point binding, GO:0000348, mRNA branch site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000259698 chr15 21019388 21020851 + FAM30C unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259699 chr15 89135547 89136495 - HMGB1P8 processed_pseudogene 6 13 7 9 16 31 15 11 23 ENSG00000259700 chr15 48810701 48811909 + AC012379.2 processed_transcript 1 0 1 2 0 0 0 0 2 ENSG00000259701 chr15 51278927 51280015 - AC020891.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259702 chr15 96045341 96064357 - AC024337.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259704 chr15 90839724 90841378 + AC124248.1 sense_overlapping 105370969 6 5 13 2 1 3 2 10 3 ENSG00000259705 chr15 48645951 48652016 + AC084757.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259706 chr15 99257632 99260015 + HSP90B2P processed_pseudogene 5 4 2 9 2 7 5 0 3 ENSG00000259707 chr15 82691723 82692358 - AC105339.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259708 chr15 78250502 78264156 - AC090607.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259709 chr15 52124561 52140246 + AC023906.4 antisense 1 5 8 15 3 16 9 5 13 ENSG00000259710 chr15 35282596 35282980 + NUTF2P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259711 chr16 54934913 54954665 + AC106738.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259712 chr15 52056675 52100523 - AC023906.5 antisense 0 4 5 11 19 24 14 8 22 ENSG00000259713 chr15 89518523 89591956 + AC013391.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000259715 chr15 50359450 50360194 - AC022087.1 lincRNA 3 4 3 8 12 14 5 1 12 ENSG00000259717 chr14 103120847 103123007 - LINC00677 lincRNA 105370683 58 74 70 24 25 39 17 27 22 ENSG00000259719 chr14 56310880 56345001 + LINC02284 lincRNA 0 2 0 4 9 4 6 10 1 ENSG00000259720 chr15 31002013 31042302 + AC009562.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259721 chr15 32717270 32719007 - AC090877.2 lincRNA 100131315 0 0 0 0 0 0 0 0 0 ENSG00000259722 chr15 77204578 77205100 + AC087465.1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000259723 chr20 53453058 53504314 - AL354993.2 antisense 1 0 0 0 0 0 1 0 0 ENSG00000259724 chr15 93905405 94107938 - LINC01581 lincRNA 101927112 0 0 0 0 0 0 0 0 0 ENSG00000259725 chr16 54937786 54938671 - AC106738.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259726 chr15 84186752 84197384 + CSPG4P11 unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000259727 chr15 62895812 62899543 + AC103740.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259728 chr15 84570649 84580175 + LINC00933 transcribed_unprocessed_pseudogene 100506874 1 3 1 0 3 0 1 0 0 ENSG00000259730 chr15 47944044 47949509 + AC092078.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259731 chr15 38756552 38759413 - AC022929.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259732 chr15 59121034 59133250 + AC092757.2 sense_overlapping 0 0 0 2 0 0 0 2 0 ENSG00000259734 chr15 86630266 86631136 - AC012229.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259735 chr15 59348648 59359889 - AC092868.2 sense_intronic 0 0 0 0 0 1 0 0 0 ENSG00000259736 chr15 90620007 90717141 - CRTC3-AS1 antisense 101926895 4 6 2 9 5 15 9 4 3 ENSG00000259737 chr15 36438972 36471016 - AC087516.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259738 chr15 58865006 58865303 + ZNF444P1 processed_pseudogene 0 0 0 0 3 6 4 3 0 ENSG00000259740 chr15 47525169 47527756 + AC009558.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259742 chr15 44914802 44930622 - AC090888.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259743 chr15 46099193 46100392 - AC068714.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259744 chr15 70848883 70849770 - AC009269.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259746 chr15 90634725 90635033 + HSPE1P3 processed_pseudogene 0 0 0 3 1 4 1 1 0 ENSG00000259749 chr15 30005205 30006430 + NCAPGP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259750 chr15 59401221 59402004 - AC092868.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259751 chr15 34849137 34850395 - AC018868.2 processed_pseudogene 0 0 0 1 3 0 0 0 0 ENSG00000259753 chr17 47253897 47344292 + AC068234.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259754 chr15 47884310 48049112 + AC092078.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259755 chr15 101050732 101086066 - AC090907.2 antisense 33 37 42 15 34 35 19 27 34 ENSG00000259756 chr15 62682916 62690448 - AC100839.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259757 chr5 2736662 2737759 - AC091891.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259759 chr16 54239693 54240654 + AC007907.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259760 chr15 99396613 99401315 - AC015660.2 antisense 0 1 0 0 0 0 0 0 0 ENSG00000259761 chr15 87042054 87047161 + AC078905.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259762 chr15 85750336 85752901 - AC021739.5 antisense 2 1 1 5 4 0 3 0 0 ENSG00000259763 chr15 96235785 96237010 + LINC02157 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259764 chr15 101334437 101337428 + PCSK6-AS1 antisense 105371027 0 0 0 0 0 0 0 0 0 ENSG00000259767 chr15 83022236 83024336 - AC022558.1 sense_intronic 0 2 0 10 2 0 3 1 0 ENSG00000259768 chr16 72665170 72791624 + AC004943.2 antisense 4 15 7 9 10 21 4 12 24 ENSG00000259769 chr15 20046296 20047994 - AC127381.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259770 chr15 79944498 79945578 + AC015871.1 processed_pseudogene 0 0 0 0 2 2 0 2 0 ENSG00000259771 chr15 59266720 59271162 - AC092756.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259772 chr15 31221999 31230838 - AC012236.1 lincRNA 283710 3 2 13 0 0 0 0 0 0 ENSG00000259773 chr15 50746709 50749829 + AC012100.2 antisense 52 58 84 30 45 41 34 29 31 ENSG00000259774 chr15 84422618 84425882 + AC243562.3 lincRNA 103171574 0 0 0 0 0 0 0 0 0 ENSG00000259775 chr14 103331674 103332367 - AL138976.2 antisense 2 1 1 0 0 4 9 1 2 ENSG00000259776 chr1 239247808 239250818 - AC093426.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259779 chr18 74409415 74413209 + LINC01922 lincRNA 101927606 0 0 0 0 0 0 0 0 0 ENSG00000259780 chr16 2235689 2236913 - AC009065.1 lincRNA 11 4 12 15 6 4 2 9 4 ENSG00000259781 chr15 71164770 71165415 - HMGB1P6 processed_pseudogene 227 157 253 74 121 127 96 111 85 ENSG00000259782 chr16 23446446 23447282 - AC008915.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259783 chr15 72608481 72636919 - LINC02259 lincRNA 102723640 0 0 0 1 1 0 0 0 2 ENSG00000259784 chr16 2513965 2527955 + AC093525.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259786 chr5 29143503 29217115 + LINC02109 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259788 chr1 162560227 162561308 - AL596325.1 antisense 0 0 0 1 0 0 3 0 0 ENSG00000259789 chr14 90489010 90491637 - AL096869.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259790 chr15 75321397 75322693 - ANP32BP1 transcribed_processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000259791 chr16 35640029 35640582 + AC092325.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259792 chr15 77993405 77995289 + AC104758.2 antisense 23 23 21 16 34 31 39 17 12 ENSG00000259793 chr2 233351132 233353416 - AC013726.1 antisense 2 2 0 0 1 0 0 1 0 ENSG00000259797 chr16 68316801 68319036 + AC020978.1 sense_intronic 1 0 2 0 0 0 0 0 1 ENSG00000259798 chr16 71113352 71114000 + AC138625.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259800 chr16 33130235 33130442 + AC145350.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259802 chr5 10352701 10353601 - AC012640.2 antisense 0 0 1 1 0 0 1 0 0 ENSG00000259803 chr16 89195761 89201664 - SLC22A31 protein_coding 146429 GO:0016021, integral component of membrane, GO:0022857, transmembrane transporter activity, GO:0055085, GO:0006811, transmembrane transport, ion transport, 0 0 0 3 0 0 0 0 0 ENSG00000259804 chr16 67561411 67562309 - AC027682.1 antisense 107984813 0 0 1 2 12 1 1 1 0 ENSG00000259805 chr15 82925884 83103443 + AC022558.2 antisense 0 0 0 0 0 3 1 0 0 ENSG00000259807 chr16 29217170 29220031 - AC009093.1 lincRNA 14 11 15 15 9 13 23 34 10 ENSG00000259810 chr16 31788202 31790993 + AC002519.1 sense_intronic 0 2 0 0 0 0 0 0 3 ENSG00000259813 chr16 88696501 88698610 + AC138028.3 antisense 324 356 431 210 373 324 181 294 270 ENSG00000259814 chr15 29609676 29611212 - AC102941.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259815 chr1 208626741 208628085 - AC099793.1 lincRNA 2 0 1 0 0 0 0 0 0 ENSG00000259817 chr16 73812621 73816053 + AC087565.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259818 chr1 53220663 53224253 + AL606760.3 antisense 2 3 3 7 0 0 0 0 0 ENSG00000259819 chr16 8369864 8376276 + AC018767.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259820 chr8 134792020 134798272 - AC083843.2 lincRNA 75 82 75 193 150 216 166 108 105 ENSG00000259821 chr16 47004513 47035385 + AC018845.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000259822 chr16 32278866 32279115 + AC140878.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259823 chr1 248718649 248755739 - LYPD8 protein_coding 646627 GO:0031225, GO:0005886, GO:0005615, GO:0005615, GO:0005576, anchored component of membrane, plasma membrane, extracellular space, extracellular space, extracellular region, GO:0050829, GO:0050829, defense response to Gram-negative bacterium, defense response to Gram-negative bacterium, 4 8 14 2 6 0 13 5 7 ENSG00000259826 chr7 39947522 39949755 - AC072061.1 antisense 6 3 11 22 21 28 18 14 15 ENSG00000259827 chr16 56682470 56687807 + AC026461.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259828 chr6 141447011 141451006 + AL355596.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259831 chr13 110809676 110813084 - LINC00567 lincRNA 283486 0 0 0 0 0 0 0 0 0 ENSG00000259832 chr1 46967679 46967874 - CYP4A26P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259833 chr16 71080866 71093667 + AC138625.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259834 chr1 110653560 110657040 - AL365361.1 lincRNA 76 56 181 149 57 192 129 42 158 ENSG00000259836 chr16 35489237 35490212 + AGGF1P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259837 chr18 926083 927993 - LINC01904 lincRNA 388456 0 0 0 0 0 0 0 0 0 ENSG00000259838 chr15 41557027 41557435 + ELOCP2 unprocessed_pseudogene 2 1 0 1 0 1 7 0 4 ENSG00000259840 chr16 710746 711277 - Z97653.1 lincRNA 2 2 7 0 2 0 0 0 0 ENSG00000259841 chr16 35363412 35390584 + LINC01566 lincRNA 283914 0 0 0 0 0 0 0 0 0 ENSG00000259842 chr16 33949976 33950420 - IGHV3OR16-16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259843 chr16 50046429 50066224 - AC007610.1 antisense 2 0 2 3 0 4 7 1 0 ENSG00000259844 chr16 60654235 60656649 - GNPATP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259845 chr15 30815271 30844153 + HERC2P10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259846 chr16 64364781 64600247 + AC092131.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259847 chr16 65141756 65176713 - LINC02126 lincRNA 101927650 0 0 0 0 0 0 0 0 0 ENSG00000259848 chr2 94867486 94947341 - AC097374.1 transcribed_unprocessed_pseudogene 442028 0 0 0 0 0 0 0 0 0 ENSG00000259849 chrX 26558337 26561052 + VENTXP1 lincRNA Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008]. 139538 0 0 0 0 0 0 0 0 0 ENSG00000259852 chr16 32978461 32978891 + IGHV1OR16-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259854 chr11 69414307 69416832 + AP005233.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259855 chr2 216995906 216996490 + AC007749.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259856 chr16 46626404 46626992 - RAB43P1 processed_pseudogene 49 54 70 10 10 37 7 34 21 ENSG00000259861 chr5 6030035 6030841 + AC010266.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259862 chr12 130249679 130266725 + AC026336.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259863 chr2 109127327 109128930 - SH3RF3-AS1 lincRNA 6 9 6 0 3 11 4 2 2 ENSG00000259864 chr16 63703483 63703665 + AC018846.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259865 chr1 247187281 247188526 - AL390728.6 lincRNA 101 89 130 149 136 257 139 100 161 ENSG00000259866 chr16 47561307 47562480 - AC007599.1 processed_pseudogene 0 0 2 0 1 0 0 0 0 ENSG00000259867 chr16 80155053 80563135 - AC105411.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259868 chr14 55896547 55962970 + AL163952.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259869 chr10 42751178 42754297 - AL022344.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259870 chr15 97876289 97878386 + AC024651.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259871 chr16 19315164 19316526 + AC130456.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259873 chr16 82434828 82435381 + AC009117.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259874 chr16 31870887 31871124 - AC034105.2 processed_pseudogene 0 0 0 7 6 5 2 8 9 ENSG00000259876 chr16 12556353 12557694 - AC010333.1 antisense 4 2 1 0 1 0 3 0 0 ENSG00000259877 chr16 89215211 89217653 - AC009113.1 antisense 14 13 18 44 25 59 25 21 13 ENSG00000259878 chr15 62230384 62231895 - AC126323.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259881 chr16 88881038 88887136 + AC092384.2 antisense 101927793 198 189 204 113 134 110 125 132 59 ENSG00000259882 chr16 33577502 33622547 + AC142384.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259883 chr15 41921417 41928883 + EHD4-AS1 antisense 101928363 0 0 3 2 0 5 2 2 1 ENSG00000259884 chr12 52058459 52059503 - AC025259.3 lincRNA 18 33 70 1962 675 1842 1876 606 1333 ENSG00000259887 chr12 51848223 51852729 + AC068987.1 lincRNA 105369971 0 0 0 0 0 0 0 0 0 ENSG00000259889 chr2 239734956 239735538 + AC093802.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259890 chr15 30567822 30571089 - DNM1P50 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259891 chr8 140505813 140508043 - AC107375.1 antisense 48 64 50 37 56 43 48 34 69 ENSG00000259892 chr15 34555870 34556820 + AC027139.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259895 chr16 2464950 2468213 - AC106820.2 antisense 729652 0 0 0 0 0 0 1 0 0 ENSG00000259897 chr16 35245916 35247534 - FRG2JP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259899 chr16 12560756 12611044 - AC010333.2 antisense 1 2 1 0 1 0 8 2 1 ENSG00000259900 chr16 69335276 69351730 - AC026464.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000259904 chr15 34373541 34374603 - ACTG1P15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259905 chr15 24493137 24652130 + PWRN1 lincRNA This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009]. 791114 0 0 0 0 0 0 0 0 0 ENSG00000259906 chr15 30170563 30179943 - AC120045.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259907 chr14 71181456 71182106 + AC004817.2 lincRNA 0 0 0 0 0 0 0 0 4 ENSG00000259909 chr15 72638821 72640125 + AC100827.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259910 chr16 1159548 1160176 - AC120498.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259912 chr16 48620319 48622033 + AC023813.1 lincRNA 2 2 7 0 0 0 0 2 5 ENSG00000259914 chr16 83725676 83726377 - AC009063.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259915 chr2 186354570 186356773 - AC017071.1 lincRNA 0 1 0 1 1 0 0 0 0 ENSG00000259916 chr2 94588522 94604573 + AL845331.2 protein_coding 100509620 0 0 0 0 0 0 0 0 0 ENSG00000259917 chr15 34489002 34490571 - HNRNPLP2 unprocessed_pseudogene 42 43 28 21 17 24 23 17 13 ENSG00000259918 chr16 47598654 47598996 - NDUFA5P11 processed_pseudogene 2 3 5 1 3 1 5 0 3 ENSG00000259920 chr7 130481491 130484392 - AC007938.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259921 chr15 99157231 99161140 - AC022819.1 sense_intronic 0 0 0 0 1 0 0 0 0 ENSG00000259922 chr16 57013071 57014100 - AC023825.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000259923 chr16 56648881 56652636 + AC026461.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259924 chr15 65771176 65772139 - AC011939.1 processed_pseudogene 2 11 5 25 10 15 17 8 18 ENSG00000259925 chr16 19343647 19401693 - AC130456.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259926 chr16 53448748 53449590 + AC007342.1 sense_intronic 1 2 1 3 0 0 0 3 2 ENSG00000259928 chr17 30564057 30565576 - AC011840.2 lincRNA 1 0 0 0 2 5 1 0 1 ENSG00000259929 chr16 17933189 18151595 - AC010601.1 lincRNA 107984893 0 0 0 0 0 0 0 0 0 ENSG00000259931 chr15 75512770 75513040 - AC105036.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259932 chr15 45198517 45199139 - AC051619.7 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259933 chr16 2091436 2095433 + AC009065.2 sense_overlapping 105371049 4 4 6 7 1 11 6 4 5 ENSG00000259934 chr16 32845964 32846180 - AC142086.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259935 chr15 52648634 52649866 - AC009754.1 sense_intronic 1 3 3 0 4 13 7 1 2 ENSG00000259937 chr12 33404872 33405896 - AC023158.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000259939 chr16 8853312 8854347 + AC022167.1 antisense 38 52 57 19 40 41 44 39 24 ENSG00000259940 chr16 27213308 27214993 - AC109449.1 antisense 3 7 4 11 12 17 9 7 14 ENSG00000259941 chr15 56394321 56396785 - AC084782.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259943 chr1 40256427 40257967 - AL050341.2 antisense 24 35 51 15 18 23 7 24 18 ENSG00000259944 chr17 15030975 15031957 + CDRT7 lincRNA 94150 0 0 0 0 0 0 0 0 0 ENSG00000259945 chr16 67542123 67542963 - AC027682.2 antisense 81 142 177 49 105 98 62 57 77 ENSG00000259946 chr1 97967005 97968814 - BX005019.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259947 chr16 1889114 1890434 + LINC02124 lincRNA 105371048 0 0 0 0 0 0 0 0 0 ENSG00000259948 chr15 89201091 89201768 - AC124068.1 processed_pseudogene 756 1201 1161 283 724 387 264 535 308 ENSG00000259950 chr16 31894542 31894983 - AC034105.3 processed_pseudogene 5 4 8 18 19 11 31 15 11 ENSG00000259952 chr16 29806496 29807732 - AC009133.2 antisense 218 236 252 190 193 190 158 166 155 ENSG00000259953 chr9 112032555 112037730 - AL138756.1 sense_overlapping 17 15 7 4 13 9 11 16 3 ENSG00000259954 chr16 27447669 27453393 - IL21R-AS1 antisense 283888 23 34 96 42 8 41 42 9 43 ENSG00000259955 chr16 25238318 25239287 + AC008741.1 antisense 0 2 3 2 2 0 5 1 0 ENSG00000259956 chr3 51391268 51397908 + RBM15B protein_coding Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]. 29890 GO:0036396, GO:0016607, GO:0005730, GO:0005654, GO:0005635, GO:0005634, RNA N6-methyladenosine methyltransferase complex, nuclear speck, nucleolus, nucleoplasm, nuclear envelope, nucleus, GO:0005515, GO:0003723, GO:0003723, GO:0003723, GO:0003676, protein binding, RNA binding, RNA binding, RNA binding, nucleic acid binding, GO:0045892, GO:0016032, GO:0009048, GO:0006913, GO:0006406, GO:0001510, GO:0000398, GO:0000381, GO:0000381, negative regulation of transcription, DNA-templated, viral process, dosage compensation by inactivation of X chromosome, nucleocytoplasmic transport, mRNA export from nucleus, RNA methylation, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 389 346 450 371 374 494 410 302 381 ENSG00000259959 chr4 47840122 47844339 - AC107068.1 lincRNA 19 14 11 18 30 22 19 18 16 ENSG00000259961 chr1 13513220 13516270 + AL354712.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259962 chr16 53362019 53363678 - AC007342.2 unprocessed_pseudogene 22 30 57 0 7 1 10 2 12 ENSG00000259963 chr16 6721786 6721960 + AC007012.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259964 chr15 71147650 71189042 - THSD4-AS1 antisense 101929196 0 0 0 0 0 0 0 0 0 ENSG00000259966 chr16 32600299 32615639 + AC137800.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259967 chr15 80165923 80166980 + AC087761.1 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000259968 chr5 73952940 73954014 + AC093283.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259969 chr14 57993545 57994525 - AL049838.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000259970 chr3 49684480 49684983 - AC099668.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259972 chr16 74305127 74335346 - AC009120.2 processed_transcript 288 271 296 237 236 219 226 170 220 ENSG00000259974 chr20 22547671 22578642 - LINC00261 lincRNA This gene produces a long non-coding RNA that acts as a negative regulator of cell growth. This transcript may promote differentiation and apoptosis. [provided by RefSeq, Dec 2017]. 140828 0 0 0 0 0 0 0 0 0 ENSG00000259976 chr3 114314501 114329714 - AC093010.3 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000259977 chrX 37906147 37949405 + AL121578.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259978 chr16 49764454 49764688 + MRPS21P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259979 chr16 35118238 35118956 - VN1R68P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259981 chr21 30089717 30097836 + AF096876.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259982 chr16 28700294 28701540 - CDC37P1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000259983 chr16 47013957 47014365 + AC018845.2 transcribed_processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000259984 chr1 25336429 25337465 - AL928711.1 unprocessed_pseudogene 19 19 31 9 11 21 19 5 15 ENSG00000259985 chr18 31685655 31686823 + AC017100.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259986 chr15 83179182 83439445 + AC103876.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000259987 chr16 34141256 34142006 - DUX4L46 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259989 chr16 88984032 88995369 + AC135782.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259990 chr16 34013394 34013830 - AC133561.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259992 chr16 75541399 75608445 - AC025287.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000259993 chr15 30223017 30225564 + AC135731.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259994 chr10 30302826 30306066 - AL353796.1 sense_overlapping 4 0 1 3 0 3 0 2 0 ENSG00000259995 chr16 76736342 76928169 + AC106729.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259996 chr16 35543279 35543645 - RARRES2P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259997 chr16 33002333 33002621 + IGHV1OR16-4 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000259998 chr14 88158240 88160591 - AL133279.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000259999 chr16 75321890 75325048 - AC009054.1 sense_intronic 0 0 2 0 0 0 0 0 0 ENSG00000260000 chr6 100881471 100882987 + AL133338.1 antisense 3 0 3 2 1 0 0 0 0 ENSG00000260001 chr19 7916145 7919097 + TGFBR3L protein_coding 100507588 GO:0016021, GO:0009986, GO:0005615, integral component of membrane, cell surface, extracellular space, GO:0050431, GO:0005539, GO:0005114, GO:0005024, transforming growth factor beta binding, glycosaminoglycan binding, type II transforming growth factor beta receptor binding, transforming growth factor beta-activated receptor activity, GO:0017015, GO:0016477, GO:0007179, GO:0001837, GO:0001570, GO:0001525, regulation of transforming growth factor beta receptor signaling pathway, cell migration, transforming growth factor beta receptor signaling pathway, epithelial to mesenchymal transition, vasculogenesis, angiogenesis, 0 1 3 0 1 3 5 0 0 ENSG00000260003 chr16 8276263 8295700 - AC018767.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260004 chr16 65601101 65601698 - AC092138.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260005 chr17 81228707 81233983 + AC027601.1 antisense 332 363 367 422 533 540 494 475 394 ENSG00000260007 chr15 68184032 68229718 - AC107871.1 protein_coding 220 280 235 205 502 283 300 360 236 ENSG00000260008 chr11 102107886 102109842 + AP001527.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260009 chr16 14363109 14370266 - LINC02130 lincRNA 105447648 0 0 0 0 0 0 0 0 0 ENSG00000260010 chr16 31601593 31603531 - ZNF720P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260011 chr17 82381110 82382690 - AC132938.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260012 chr16 47262741 47263500 + AC007494.1 processed_pseudogene 2 5 7 1 9 3 8 6 0 ENSG00000260014 chr16 78355529 78355834 + LSM3P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260015 chr16 71539834 71541825 - AC010547.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260017 chr16 18803083 18812181 + AC138811.1 antisense 128 132 177 79 102 84 78 72 79 ENSG00000260018 chr16 84117051 84117571 + AC040169.1 antisense 1 0 0 0 5 2 0 0 0 ENSG00000260019 chr17 27929548 27974223 - LINC01992 lincRNA 105371708 0 0 0 0 0 0 0 0 0 ENSG00000260021 chr1 202810238 202810829 - AC098934.4 antisense 0 0 0 10 2 5 0 0 0 ENSG00000260022 chr16 883780 885090 + AL031716.1 antisense 2 0 0 0 0 0 0 1 0 ENSG00000260024 chr16 49708006 49708243 + MRPS21P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260025 chr2 36354749 36355114 - AC009414.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260026 chr16 86720688 86721954 - LINC02189 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260027 chr17 48607227 48633572 - HOXB7 protein_coding This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq, Jul 2008]. 3217 GO:0016604, GO:0005829, GO:0005654, GO:0005634, GO:0005634, GO:0000785, nuclear body, cytosol, nucleoplasm, nucleus, nucleus, chromatin, GO:1990837, GO:0005515, GO:0003700, GO:0001228, GO:0000981, GO:0000981, GO:0000978, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0090190, GO:0048704, GO:0045944, GO:0030099, GO:0009952, GO:0007275, GO:0006357, GO:0006355, positive regulation of branching involved in ureteric bud morphogenesis, embryonic skeletal system morphogenesis, positive regulation of transcription by RNA polymerase II, myeloid cell differentiation, anterior/posterior pattern specification, multicellular organism development, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 1 0 0 ENSG00000260029 chr16 50551824 50553940 - AC007608.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260030 chr12 53754358 53762104 + AC076968.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260031 chr16 50151280 50151577 - RPL10P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260032 chr20 36045622 36050960 - NORAD lincRNA 647979 2395 2427 2734 882 1157 1325 1004 1047 1145 ENSG00000260033 chr16 48600176 48600644 + AC023813.2 processed_pseudogene 3 3 3 1 2 9 7 2 10 ENSG00000260034 chr16 25140577 25149032 - LCMT1-AS2 antisense 100506655 6 4 4 5 11 13 9 8 2 ENSG00000260035 chr15 45200325 45200632 - AC051619.8 sense_intronic 1 0 0 4 1 0 0 0 0 ENSG00000260036 chr15 55442635 55443357 - AC013355.1 processed_pseudogene 0 0 1 2 1 1 0 2 0 ENSG00000260037 chr15 71818396 71823384 + AC104938.1 antisense 4 2 4 10 5 0 0 3 12 ENSG00000260038 chr16 57247350 57248492 + AC009090.1 sense_intronic 3 0 2 0 0 0 0 1 6 ENSG00000260041 chr16 56109537 56137000 + AC007495.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260042 chr16 50856614 50879278 - AC025810.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260046 chr14 45369215 45370839 + AL162632.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260047 chr16 32869985 32873128 + BCAP31P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260048 chr16 32059084 32059372 + IGHV1OR16-3 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260051 chr16 1451760 1452653 + AL031600.1 antisense 26 39 25 32 19 18 36 25 11 ENSG00000260052 chr16 48637143 48638719 + AC023813.3 lincRNA 6 2 8 8 8 13 6 3 11 ENSG00000260053 chr15 28506625 28508808 - ABCB10P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260057 chr16 51762519 51773173 + LINC01571 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260058 chr16 8309962 8357860 + AC018767.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260059 chr2 138599663 138602426 - AC092620.3 lincRNA 13 14 19 29 92 73 36 41 60 ENSG00000260060 chr16 31196131 31196963 + AC009088.1 antisense 5 12 5 24 41 54 16 11 20 ENSG00000260062 chr15 62253730 62270680 - GOLGA2P11 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260063 chr1 26692132 26694131 - AL512408.1 antisense 101928728 1 1 2 6 6 7 12 3 5 ENSG00000260064 chr16 80627551 80628379 - AC092332.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260066 chr5 1725149 1728172 + AC112176.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260067 chr16 49066567 49066729 - MTND4LP25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260068 chr16 64738323 64738564 + AC009101.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260070 chr7 36319775 36320479 + AC006960.3 antisense 2 7 7 13 16 15 11 16 15 ENSG00000260071 chr16 9466655 9517564 + AC007221.1 lincRNA 101927026 0 0 0 0 0 0 0 0 0 ENSG00000260072 chr16 24472798 24495177 - AC008938.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260073 chr16 35192687 35195661 - AC023824.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260075 chr17 46372855 46487141 + NSFP1 unprocessed_pseudogene 4 0 0 11 0 5 14 0 0 ENSG00000260077 chr2 10039092 10040663 - AC104794.2 lincRNA 4 5 5 20 29 26 21 14 41 ENSG00000260078 chr16 53364982 53373083 - AC007342.3 transcribed_unprocessed_pseudogene 643802 1562 1854 2477 366 1176 675 496 1070 765 ENSG00000260081 chrX 153599315 153613937 + AF274858.1 transcribed_processed_pseudogene 105373383 1 0 0 1 0 0 0 4 0 ENSG00000260082 chr16 30821068 30822110 - AC106886.1 processed_pseudogene 6 14 12 14 7 18 8 5 15 ENSG00000260083 chr16 30875222 30895220 + MIR762HG antisense 101928736 12 16 22 29 14 36 35 15 22 ENSG00000260084 chr16 68573782 68589512 - AC126773.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260086 chr16 48623436 48744921 + AC007611.1 lincRNA 18 15 13 7 9 19 5 14 24 ENSG00000260087 chr16 34139189 34139543 + PCMTD1P2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000260088 chr1 200669507 200694250 + AL445483.1 lincRNA 101929224 4 0 1 0 0 8 0 1 0 ENSG00000260089 chr16 49517762 49518601 - ADAM3B processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260090 chr4 147005492 147009145 + AC092435.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260091 chr4 119409333 119410233 + AC093752.3 lincRNA 9 6 28 5 21 66 18 10 30 ENSG00000260092 chr16 75528532 75545428 - AC009163.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000260093 chr8 10050485 10054254 - AC034111.1 antisense 1 0 0 2 0 6 2 1 2 ENSG00000260094 chr13 81225865 81226983 - LINC00564 lincRNA 100861546 0 0 0 0 0 0 0 0 0 ENSG00000260095 chr16 2452581 2452977 - AC106820.3 antisense 0 0 0 0 0 0 0 0 3 ENSG00000260096 chr15 74062780 74063785 + DNM1P33 unprocessed_pseudogene 1 0 0 1 1 0 0 1 0 ENSG00000260097 chr7 102347206 102356444 - SPDYE6 protein_coding This gene encodes a cell cycle regulatory protein which plays an important role in cell cycle progression by binding and activating cyclin-dependent kinases. The encoded protein belongs to a family of cyclin-dependent kinase regulators that contain a speedy box domain which is required for cyclin-dependent kinase activation. [provided by RefSeq, Jul 2017]. 729597 GO:0019901, GO:0005515, protein kinase binding, protein binding, 25 32 19 26 25 28 23 26 19 ENSG00000260100 chr9 37078813 37079776 - AL512604.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260101 chr2 64522187 64524093 - AC008074.2 lincRNA 101927402 2 6 18 2 6 10 4 9 16 ENSG00000260102 chr13 112197350 112201000 + LINC01070 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260103 chr15 74478070 74490286 - AC012435.1 transcribed_processed_pseudogene 23 15 33 7 18 16 20 4 6 ENSG00000260104 chr15 75249232 75249407 - AC068338.1 unprocessed_pseudogene 1 0 0 0 0 0 0 1 0 ENSG00000260105 chr17 42865922 42874369 + AOC4P transcribed_unprocessed_pseudogene 90586 12 20 7 20 53 27 31 23 24 ENSG00000260107 chr16 1997654 1998374 + AC005606.1 lincRNA 39 43 38 44 54 37 67 32 64 ENSG00000260108 chr16 69463844 69466264 + AC026464.2 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000260109 chr15 67985059 67986288 + AC135628.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260111 chr16 70379457 70399502 + AC012184.1 antisense 250 209 255 96 114 125 120 122 97 ENSG00000260112 chr19 9518150 9519341 + AC008567.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000260113 chr16 30626976 30627178 + AC093249.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260115 chr16 61918321 61940697 + AC012174.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260118 chrX 68013470 68014901 - AL157700.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260120 chr4 52680609 52692649 + AC104066.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260121 chr16 88718615 88720459 + AC138028.4 antisense 15 18 90 68 19 72 35 20 53 ENSG00000260122 chr12 51809705 51810600 - AC068987.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260123 chr15 89041223 89082819 + AC013565.1 lincRNA 5 0 2 0 0 5 0 0 3 ENSG00000260125 chr15 86295649 86317173 - AGBL1-AS1 antisense 727915 0 0 0 0 0 0 0 0 0 ENSG00000260126 chr16 16658227 16664135 + AC092326.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260128 chr15 30572738 30600647 + ULK4P2 transcribed_unprocessed_pseudogene 100288380 3 0 1 0 0 2 0 0 0 ENSG00000260131 chr13 20181531 20181942 + LINC00556 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260132 chr16 1408834 1412248 + AL032819.1 antisense 3 1 8 0 2 2 0 0 0 ENSG00000260133 chr16 29618785 29636328 - CA5AP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260134 chr16 35574834 35575494 + C1QL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260135 chr16 55426797 55462297 - MMP2-AS1 lincRNA 1 0 1 0 0 0 0 1 0 ENSG00000260136 chr16 23452758 23457606 + AC008915.2 lincRNA 5 5 4 3 5 4 3 5 6 ENSG00000260137 chr10 37791580 37791937 + AL132657.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260139 chr15 77894684 77904674 + CSPG4P13 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260141 chr16 33043609 33095431 - AC145350.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260142 chr2 193898367 193899394 + AC068135.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260144 chr15 72605183 72612326 + AC100827.2 unprocessed_pseudogene 2 2 3 2 7 0 0 2 5 ENSG00000260145 chr16 57052505 57058497 - AC023825.2 antisense 5 6 3 8 5 27 7 2 11 ENSG00000260146 chr16 66450998 66451351 - AC132186.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260147 chr16 55007982 55008306 + MTND5P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260148 chr16 57091213 57092303 - AC009090.2 antisense 2 0 0 0 0 0 1 0 5 ENSG00000260151 chr10 27343436 27344917 + AL355493.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260152 chr15 75114261 75114868 + AC113208.1 processed_pseudogene 9 4 5 4 7 5 3 6 2 ENSG00000260153 chr16 35485766 35486225 - RARRES2P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260156 chr16 70747057 70747926 + AC020763.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260157 chr17 21614487 21641536 + AC233702.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260158 chr16 32809556 32824645 + AC137761.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260159 chr15 28454660 28457783 - AC091304.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260160 chr19 52058490 52063703 - AC011468.1 sense_overlapping 9 1 5 7 9 10 8 2 11 ENSG00000260161 chr16 82120638 82121769 - MTCYBP28 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000260162 chr16 88177289 88178646 + AC134312.2 lincRNA 1 0 1 0 0 7 0 0 0 ENSG00000260163 chr2 127025211 127029686 + AC012508.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260165 chr15 75480661 75480836 + AC105036.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260166 chr16 88087387 88087932 + AC134312.3 lincRNA 0 1 0 1 0 2 0 0 0 ENSG00000260167 chr16 30585907 30608593 + AC093249.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260170 chr15 45587351 45676314 + AC090527.2 protein_coding 0 0 0 0 0 0 4 0 0 ENSG00000260171 chr2 206821190 206822294 - AC008269.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260172 chr15 57319138 57323908 + LINC01413 lincRNA 101928611 0 0 0 0 0 0 0 0 0 ENSG00000260173 chr15 72140504 72155459 - AC020779.2 antisense 1 0 0 0 0 0 0 0 0 ENSG00000260174 chr15 30044455 30045296 + AC111152.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260176 chr16 2644084 2645214 - AC141586.2 lincRNA 4 3 1 0 1 0 1 1 3 ENSG00000260177 chr16 87780134 87806476 - AC126696.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260179 chr1 1249777 1251334 - AL162741.1 lincRNA 7 6 6 8 5 6 3 6 6 ENSG00000260182 chr16 1257339 1258074 + AC120498.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260183 chr16 80547842 80552514 - AC108097.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000260184 chr16 48849919 48850015 - AC023827.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260185 chr16 71655027 71664212 + AC009097.1 antisense 0 0 1 0 0 7 0 3 0 ENSG00000260186 chr16 58421326 58462470 + LINC02137 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260187 chr16 64735925 64737283 + PPIAP48 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260188 chr6 110477907 110479436 + AC002464.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260190 chr9 136937169 136937988 - AL807752.5 sense_overlapping 5 4 6 3 9 5 10 5 11 ENSG00000260192 chr5 124808981 125602227 + LINC02240 lincRNA 101927460 0 0 0 0 0 0 0 0 0 ENSG00000260193 chr9 136107808 136109424 - AL138781.1 lincRNA 2 2 2 0 4 4 1 3 0 ENSG00000260194 chr16 53998313 53999969 - AC007496.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260196 chr11 17380649 17383531 + AC124798.1 antisense 2 2 10 87 44 66 45 22 36 ENSG00000260197 chrY 19691941 19694606 - AC010889.1 lincRNA 5 3 9 13 5 3 16 1 13 ENSG00000260198 chr16 56300616 56302904 + AC009102.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260201 chr16 20580999 20586640 + AC141273.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260202 chr20 23481645 23519054 - AL109954.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260205 chr10 22218074 22221168 + AL157831.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260206 chr15 75636139 75639239 + AC105020.2 antisense 3 2 3 6 3 5 6 11 1 ENSG00000260207 chr16 34142456 34142849 + DUX4L47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260209 chr11 125873031 125874528 - AP000842.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260211 chr15 32313126 32315654 - AC139426.1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000260212 chr6 127659424 127660338 + AL356432.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260213 chr16 81016792 81035759 - AC092718.2 antisense 4 12 2 0 9 8 4 7 14 ENSG00000260217 chr3 175938929 175941037 - AC104640.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260218 chr16 31963803 31964079 + AC034105.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260219 chr16 30355441 30357104 + AC106782.2 lincRNA 101928707 23 32 31 25 47 57 34 39 32 ENSG00000260220 chr9 136249971 136306901 - CCDC187 protein_coding 399693 GO:0005813, centrosome, GO:0008017, microtubule binding, GO:0034453, microtubule anchoring, 0 1 0 0 0 0 0 0 0 ENSG00000260223 chr16 76107283 76147806 - AC099511.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260224 chr16 11968508 11968743 - UBL5P4 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000260228 chr16 83789967 83807834 - AC009119.1 antisense 102724163 15 20 16 3 12 5 17 7 9 ENSG00000260229 chr16 81476023 81476519 - PPIAP51 processed_pseudogene 10 10 10 6 15 10 8 12 5 ENSG00000260230 chr9 109130293 109167295 - FRRS1L protein_coding This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]. 23732 GO:0045202, GO:0016021, GO:0005886, GO:0005575, synapse, integral component of membrane, plasma membrane, cellular_component, GO:0003674, molecular_function, GO:1900449, GO:1900449, GO:0099072, regulation of glutamate receptor signaling pathway, regulation of glutamate receptor signaling pathway, regulation of postsynaptic membrane neurotransmitter receptor levels, 0 0 0 0 0 0 0 0 0 ENSG00000260231 chr7 140177184 140179640 + KDM7A-DT bidirectional_promoter_lncRNA 100134229 64 45 49 44 56 46 26 33 41 ENSG00000260232 chr15 23975172 24003435 + PWRN4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260233 chr11 65568482 65570423 - SSSCA1-AS1 processed_transcript 70 72 99 43 71 107 95 70 71 ENSG00000260234 chr3 150882997 150941743 - AC020636.2 protein_coding 0 0 0 2 0 0 0 0 5 ENSG00000260235 chr15 75624793 75625690 + AC105020.3 antisense 1 0 8 1 3 0 0 3 4 ENSG00000260236 chr3 47379089 47380999 - AC099778.1 antisense 6 8 9 39 18 88 27 33 34 ENSG00000260237 chr16 80040662 80045745 + AC092130.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260238 chr1 156212982 156243332 + PMF1-BGLAP protein_coding This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010]. 100527963 0 0 0 0 0 0 0 0 0 ENSG00000260239 chr6 4491807 4495769 + LINC02533 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260240 chr16 59709993 59755026 - APOOP5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260242 chr16 18002806 18173063 - AC091489.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260244 chr4 155734448 155737062 + AC104083.1 sense_overlapping 0 0 1 0 0 0 0 0 0 ENSG00000260246 chr1 109693117 109693742 - AC000032.1 antisense 0 4 2 0 0 0 0 1 0 ENSG00000260247 chr16 23537061 23537556 + SUB1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260249 chr16 50666211 50671639 + AC007608.3 antisense 88 142 275 33 181 132 77 110 134 ENSG00000260251 chr16 46573763 46575094 + AC092368.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260252 chr16 72084857 72087443 + AC009087.1 antisense 11 8 6 16 24 5 6 9 1 ENSG00000260253 chr8 29352420 29353170 - AC084262.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000260254 chr11 115638563 115646962 + AP000997.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260255 chr16 25824710 25826330 - AC093524.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260256 chr21 44347767 44348295 - AP001063.1 lincRNA 0 0 0 0 0 5 2 0 5 ENSG00000260257 chr20 32856621 32858751 + AL035071.1 lincRNA 98 122 111 238 293 323 152 145 187 ENSG00000260258 chr16 52942139 52943464 + AC007346.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260259 chr16 89682620 89686569 - LINC02166 lincRNA 0 3 1 9 3 8 0 3 1 ENSG00000260260 chr16 2154797 2155358 - SNHG19 lincRNA 100507303 6 5 8 10 8 3 3 1 7 ENSG00000260261 chr3 195913078 195954485 - AC124944.3 transcribed_unprocessed_pseudogene 2 0 9 12 13 11 5 8 10 ENSG00000260262 chr4 836512 837224 - AC139887.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260264 chr16 24236104 24252863 + LINC2194 lincRNA 105371142 0 0 0 0 0 0 0 0 0 ENSG00000260265 chr4 75081702 75084717 - LINC02562 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260266 chr15 74350768 74364620 + PPIAP46 transcribed_processed_pseudogene 729739 0 0 1 0 0 0 0 0 0 ENSG00000260267 chr16 31456711 31459736 - AC026471.1 antisense 65 65 66 65 69 105 64 82 80 ENSG00000260268 chr16 52083065 52085109 - LINC00919 lincRNA 100505619 0 0 0 0 0 0 0 0 0 ENSG00000260269 chr15 75527150 75601205 - AC105036.3 processed_transcript 0 0 1 0 0 3 0 1 0 ENSG00000260271 chr6 90320443 90362632 + AL132996.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260272 chr16 2496032 2520218 + AC093525.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000260273 chr6 109382795 109383666 + AL359711.2 antisense 5 3 7 18 14 16 7 3 6 ENSG00000260274 chr15 75368155 75369584 + AC068338.2 lincRNA 25 38 64 43 27 77 39 24 68 ENSG00000260275 chr15 89037977 89038286 - AC013565.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260276 chr16 8848105 8860456 + AC022167.2 antisense 77 80 109 45 80 98 75 72 61 ENSG00000260277 chr16 22083256 22092231 - AC009019.1 antisense 3 4 8 4 1 11 13 2 20 ENSG00000260278 chr4 78773654 78775973 - AC098818.2 antisense 1 0 1 9 10 10 6 3 9 ENSG00000260279 chr16 89296128 89298317 + AC137932.1 antisense 105371414 71 85 80 38 50 66 49 36 40 ENSG00000260280 chr16 29455105 29464963 + SLX1B-SULT1A4 processed_transcript This locus represents naturally occurring read-through transcription between the neighboring SLX1B (SLX1 structure-specific endonuclease subunit homolog B) and SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1A and SULT1A3 genes located approximately 730 kb downstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2017]. 100526831 1 0 1 1 0 0 0 0 1 ENSG00000260281 chr16 47144323 47162747 + ITFG1-AS1 antisense 15 12 11 8 16 8 12 17 17 ENSG00000260282 chr15 42581156 42581488 - EIF4EBP2P2 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000260284 chr16 1286351 1288837 - TPSP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260285 chr14 103525010 103529072 - AL133367.1 antisense 21 36 16 27 9 17 9 16 15 ENSG00000260286 chr6 24797321 24798889 - ARMH2 protein_coding 101928603 4 9 2 6 15 6 3 10 9 ENSG00000260287 chr17 36323884 36334759 + TBC1D3G protein_coding 101060321 GO:0005886, plasma membrane, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000260288 chr15 75737820 75763321 + AC019294.2 processed_transcript 10 12 12 31 31 21 15 35 5 ENSG00000260289 chr16 7888489 7894395 - AC093515.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260290 chr16 69756536 69757937 - AC092115.1 processed_pseudogene 2 1 0 7 2 0 2 2 0 ENSG00000260291 chr16 35384144 35385086 - FRG2GP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260293 chr16 2476558 2482173 + AC106820.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260296 chr4 40166675 40167831 + AC095057.3 sense_overlapping 2 2 3 5 0 3 7 2 1 ENSG00000260298 chr16 50058150 50059231 - ACTG1P16 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260300 chr16 83908132 83951445 + AC009119.2 protein_coding 1 6 1 13 2 4 8 0 1 ENSG00000260302 chr18 12739490 12776137 - AP005482.1 lincRNA 1 0 0 4 4 0 0 1 4 ENSG00000260303 chr4 146052604 146056762 - AC108206.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000260304 chr16 31182511 31183285 - AC009088.2 antisense 422 586 696 442 559 491 301 379 406 ENSG00000260305 chr15 88252730 88271066 + NTRK3-AS1 lincRNA 283738 0 0 0 0 0 0 0 0 0 ENSG00000260306 chr16 21794095 21795759 - AC092375.2 lincRNA 2 5 2 8 13 31 15 7 13 ENSG00000260307 chr16 32439069 32441159 - PABPC1P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260308 chr16 33771035 33771248 + AC136428.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260310 chr16 10576499 10578183 - AC027277.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260311 chr16 32663925 32666533 + AC138907.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260312 chr16 33857935 33858864 - AC140658.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260314 chr10 17809344 17911170 + MRC1 protein_coding The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]. 4360 GO:0010008, GO:0009986, GO:0005887, GO:0005886, GO:0005886, endosome membrane, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0038024, GO:0038023, GO:0005537, GO:0005515, GO:0004888, GO:0001618, cargo receptor activity, signaling receptor activity, mannose binding, protein binding, transmembrane signaling receptor activity, virus receptor activity, GO:0071353, GO:0071346, GO:0071222, GO:0046718, GO:0006898, GO:0006898, cellular response to interleukin-4, cellular response to interferon-gamma, cellular response to lipopolysaccharide, viral entry into host cell, receptor-mediated endocytosis, receptor-mediated endocytosis, 1 2 0 4 6 2 2 3 0 ENSG00000260316 chr16 898967 905224 - AL008727.1 sense_intronic 0 0 4 10 4 7 4 2 0 ENSG00000260317 chr8 80541300 80543104 + AC009812.4 lincRNA 0 0 0 1 0 0 3 0 0 ENSG00000260318 chr16 11903923 11904137 - COX6CP1 processed_pseudogene 2 0 3 0 1 0 6 0 0 ENSG00000260322 chr1 80114943 80116918 + AC098657.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260325 chr17 42121431 42123352 + HSPB9 protein_coding 94086 GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytoplasm, cytoplasm, nucleus, nucleus, GO:0005515, protein binding, 5 7 13 7 13 10 14 1 14 ENSG00000260326 chr16 52934813 52935635 + PHBP21 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260327 chr16 32379071 32380049 - ACTR3BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260328 chr17 17011914 17014990 - AC104024.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260329 chr12 106954029 106955497 - AC007541.1 antisense 0 1 0 4 1 0 0 3 0 ENSG00000260331 chr2 18547386 18548204 - AC079148.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000260332 chr16 62808222 62808706 - AC010546.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260335 chr16 29449191 29449625 + AC133555.4 unprocessed_pseudogene 4 2 11 5 4 3 2 5 0 ENSG00000260337 chr15 92592574 92596462 - AC091544.4 processed_transcript 2 0 1 0 6 5 0 7 1 ENSG00000260338 chr16 5601169 5616196 - LINC01570 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260339 chr15 72376113 72378788 + HEXA-AS1 antisense 80072 4 4 3 45 45 67 28 28 40 ENSG00000260340 chr16 84928353 84939603 + LINC02176 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260341 chr16 35492324 35493446 + C2orf69P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260342 chr16 18788063 18801519 - AC138811.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000260343 chr13 112313467 112321758 + LINC01043 lincRNA 101928752 0 0 0 0 0 0 0 0 0 ENSG00000260344 chr16 32213380 32213503 - AC133485.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260345 chr16 57461055 57462737 + AC009052.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000260347 chr16 48496990 48498601 + MOCS1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260348 chr11 69909184 69910994 - AP007216.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260349 chr16 9105834 9107174 - AC087190.1 antisense 812 655 842 292 657 692 510 499 633 ENSG00000260350 chr16 8847650 8848724 - AC012173.1 antisense 20 25 18 27 10 31 23 10 16 ENSG00000260351 chr15 83022571 83090782 + AC024270.2 antisense 4 8 4 2 7 7 3 1 0 ENSG00000260352 chr16 18926863 18937043 + AC092287.1 antisense 0 0 2 1 1 0 2 1 1 ENSG00000260357 chr15 75299953 75302965 - DNM1P34 transcribed_unprocessed_pseudogene 1 0 0 5 0 0 0 0 0 ENSG00000260360 chr1 179953184 179954440 - AL353708.1 lincRNA 0 0 1 1 2 4 0 2 0 ENSG00000260361 chr15 92779757 92781492 - AC106028.3 sense_intronic 26 37 39 31 59 33 33 24 31 ENSG00000260362 chr16 9666885 9676843 - AC007218.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260364 chr16 65233056 65432820 + AC009055.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260366 chr19 48926171 48926444 + AC026803.1 sense_overlapping 2 4 2 6 3 3 8 7 3 ENSG00000260367 chr16 28973962 28978824 - AC109460.1 antisense 11 19 16 41 49 26 36 32 29 ENSG00000260368 chr8 100913247 100914388 - AC027373.1 sense_overlapping 18 7 12 81 72 142 41 27 48 ENSG00000260369 chr17 80453735 80454729 - AC120024.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260370 chr10 14061 16544 - AC215217.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260371 chr16 69335091 69356306 - AC026464.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000260372 chr18 26655742 27190698 + AQP4-AS1 antisense 0 5 0 0 0 0 0 0 0 ENSG00000260375 chr15 62255686 62256421 - AC126323.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260377 chr3 182739669 182740848 - AC083801.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260378 chr16 12745873 12757835 + AC109597.1 antisense 20 19 36 47 38 48 24 42 37 ENSG00000260379 chr16 8508069 8508585 + AC074052.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260381 chr16 50100339 50121943 - AC007610.2 antisense 6 3 3 3 3 0 1 3 9 ENSG00000260382 chr15 30882267 30883231 - AC087481.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260385 chr13 112083549 112085471 + AL356961.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260386 chr1 31500085 31509648 + LINC01225 transcribed_unitary_pseudogene 149086 0 0 0 0 0 0 0 0 0 ENSG00000260387 chr16 86636328 86637145 - AC009108.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260388 chr13 47930153 47932622 - LINC00562 lincRNA 100861549 0 1 0 0 0 0 0 0 0 ENSG00000260389 chr18 32511663 32514634 + WBP11P1 transcribed_processed_pseudogene 441818 0 0 0 0 0 0 0 0 0 ENSG00000260390 chr9 27829276 27844481 + AL360014.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260391 chr3 124723788 124726325 + AC022336.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000260392 chr15 56542952 56629592 - AC090518.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260393 chr16 52607762 52608158 - AC026462.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260394 chr16 678504 679777 - Z92544.1 antisense 105371184 0 0 0 3 0 0 0 2 0 ENSG00000260395 chr16 21998310 21999656 + AC092119.1 processed_pseudogene 0 0 0 5 0 0 0 0 3 ENSG00000260398 chr8 78605952 78609705 + AC068700.1 sense_overlapping 0 2 6 1 0 3 0 0 2 ENSG00000260399 chr15 23337985 23341848 - AC100756.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260400 chr10 68698500 68700794 + AL513534.1 sense_overlapping 0 1 1 0 1 0 0 0 4 ENSG00000260401 chr11 73238975 73242335 + AP002761.4 sense_overlapping 81 121 260 10 23 59 3 28 26 ENSG00000260402 chr16 32262827 32265514 - AC133485.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260403 chr16 1156976 1157974 - AC120498.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260404 chr4 118591773 118633729 + AC110079.1 transcribed_unprocessed_pseudogene 177 299 407 136 261 338 155 189 219 ENSG00000260405 chr16 17096202 17096421 - AC109446.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260406 chr15 43302096 43302772 + AC009852.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260409 chr15 20729747 20756183 - AC012414.5 lincRNA 0 0 1 0 0 0 0 0 6 ENSG00000260410 chr16 84119293 84121153 + AC040169.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260412 chr9 27937617 27944497 - AL353746.1 sense_overlapping 0 0 0 0 2 5 2 1 0 ENSG00000260413 chr16 29312350 29331277 + AC025279.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260414 chr16 33154352 33154475 - AC138869.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260416 chr20 63127495 63129459 - AL096828.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260417 chr16 85592266 85595720 + AC092127.1 lincRNA 0 1 5 0 0 3 2 10 10 ENSG00000260418 chr6 136335714 136336087 - AL023284.4 lincRNA 0 0 0 0 0 0 0 2 0 ENSG00000260419 chr16 33191561 33195354 - AC138869.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260420 chr16 88194281 88195217 + LINC02182 lincRNA 101928880 0 0 0 0 0 0 0 0 0 ENSG00000260422 chr6 164084023 164085661 - Z97205.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260423 chr12 9367464 9397617 + LINC02367 lincRNA 101930452 1 0 0 1 0 0 1 0 0 ENSG00000260425 chr16 1358900 1361405 - AL031709.1 antisense 10 15 10 39 43 37 39 33 43 ENSG00000260426 chr7 155399922 155401782 + AC008060.4 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000260427 chr16 35347385 35348297 + AGGF1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260428 chr8 144266560 144268481 + SCX protein_coding 642658 GO:0005667, GO:0005634, GO:0000785, GO:0000785, transcription regulator complex, nucleus, chromatin, chromatin, GO:0070888, GO:0046983, GO:0043565, GO:0043425, GO:0005515, GO:0003677, GO:0001228, GO:0000981, GO:0000981, GO:0000977, E-box binding, protein dimerization activity, sequence-specific DNA binding, bHLH transcription factor binding, protein binding, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000543, GO:0071560, GO:0071260, GO:0061056, GO:0061036, GO:0061035, GO:0060325, GO:0060008, GO:0048706, GO:0045944, GO:0045944, GO:0045893, GO:0045892, GO:0043066, GO:0035993, GO:0035992, GO:0035990, GO:0035989, GO:0035914, GO:0032967, GO:0032502, GO:0030509, GO:0030199, GO:0030154, GO:0010628, GO:0008284, GO:0006357, GO:0006351, GO:0003188, GO:0003179, GO:0002062, GO:0001958, GO:0001894, GO:0001707, positive regulation of gastrulation, cellular response to transforming growth factor beta stimulus, cellular response to mechanical stimulus, sclerotome development, positive regulation of cartilage development, regulation of cartilage development, face morphogenesis, Sertoli cell differentiation, embryonic skeletal system development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, negative regulation of apoptotic process, deltoid tuberosity development, tendon formation, tendon cell differentiation, tendon development, skeletal muscle cell differentiation, positive regulation of collagen biosynthetic process, developmental process, BMP signaling pathway, collagen fibril organization, cell differentiation, positive regulation of gene expression, positive regulation of cell population proliferation, regulation of transcription by RNA polymerase II, transcription, DNA-templated, heart valve formation, heart valve morphogenesis, chondrocyte differentiation, endochondral ossification, tissue homeostasis, mesoderm formation, 2 0 6 4 0 6 0 0 0 ENSG00000260430 chr16 19086856 19098110 + AC099518.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000260431 chr16 5207088 5207439 + AC074051.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260433 chr18 53480835 53581091 - LINC01917 processed_transcript 101928167 0 0 0 0 0 0 0 0 0 ENSG00000260436 chr16 2571570 2572353 - AC093525.3 antisense 0 1 0 0 0 1 7 0 0 ENSG00000260438 chr16 57713782 57714957 + AC018552.1 processed_pseudogene 0 0 2 3 0 0 0 0 0 ENSG00000260439 chr16 921033 934495 + LMF1-AS1 antisense 101929387 0 0 0 0 0 2 0 0 6 ENSG00000260440 chr18 61748176 61756646 + LINC01544 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260441 chr16 68256162 68260443 - AC020978.2 antisense 4 6 1 6 10 5 3 8 2 ENSG00000260442 chr16 28878957 28879920 - ATP2A1-AS1 antisense 100289092 3 3 4 1 1 4 4 4 0 ENSG00000260443 chr16 87945058 87945202 - AC127455.1 processed_pseudogene 0 0 0 1 1 0 0 1 0 ENSG00000260444 chr15 28564986 28565152 - AC138749.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260445 chr7 99869841 99869894 + AC011904.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260447 chr16 2119207 2120248 + AC009065.3 antisense 0 0 0 2 0 0 0 0 0 ENSG00000260448 chr16 25085592 25111555 - LCMT1-AS1 bidirectional_promoter_lncRNA 0 0 2 3 1 8 1 1 1 ENSG00000260450 chr16 47965672 47971687 + LINC02134 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260451 chr16 58776540 58777563 + GEMIN8P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260452 chr16 28111173 28111647 - TPRKBP2 processed_pseudogene 16 18 15 44 54 41 38 27 35 ENSG00000260454 chr9 90997054 91001871 + AL355607.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260455 chr6 22134957 22147193 - NBAT1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000260456 chr16 87083562 87317420 - C16orf95 protein_coding 100506581 0 0 0 0 0 0 0 4 0 ENSG00000260457 chr18 71837039 71870788 + AC027458.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260458 chr17 21692523 21704612 + KCNJ18 protein_coding This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013]. 100134444 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005242, GO:0005242, GO:0005242, protein binding, inward rectifier potassium channel activity, inward rectifier potassium channel activity, inward rectifier potassium channel activity, GO:1990573, GO:0034765, potassium ion import across plasma membrane, regulation of ion transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000260459 chr16 68822587 68823070 + FTLP14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260460 chr1 156509854 156511681 + AL365181.1 lincRNA 0 0 0 0 2 0 0 1 1 ENSG00000260461 chr10 103877374 103879761 - AL133355.1 sense_overlapping 6 18 11 13 12 17 27 7 23 ENSG00000260464 chr1 93847174 93848939 + AL049796.1 bidirectional_promoter_lncRNA 2 0 4 2 0 1 1 0 6 ENSG00000260465 chr16 66720897 66731785 + AC018557.1 antisense 204 255 256 208 356 309 235 242 251 ENSG00000260466 chr16 87836532 87837663 + AC126696.2 antisense 23 21 44 11 3 13 10 9 17 ENSG00000260467 chr16 57681124 57701730 - AC018552.2 antisense 1338 1433 1870 1093 1268 1351 1337 965 1216 ENSG00000260468 chr16 10514842 10528202 - LINC01290 lincRNA 106144584 0 0 0 0 0 0 0 0 0 ENSG00000260469 chr15 73752317 73770613 + INSYN1-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260470 chr12 54145069 54147225 - AC023794.5 lincRNA 4 4 0 0 1 0 1 1 0 ENSG00000260471 chr16 74220929 74221427 + PPIAP49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260472 chr16 31697397 31697607 - AC074050.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260473 chr12 51815043 51842106 + AC068987.3 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000260475 chr10 99621055 99621918 + AL353719.1 lincRNA 1 3 6 33 18 16 26 19 20 ENSG00000260476 chr2 10021578 10022825 + AC104794.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260477 chr15 86078809 86116717 - LINC01584 antisense 101929701 0 0 0 0 0 0 0 0 0 ENSG00000260478 chr16 52238082 52269440 + AC007333.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260479 chr16 79090050 79101754 + AC009145.1 sense_intronic 0 6 2 0 2 0 0 0 0 ENSG00000260480 chr16 35352482 35353022 + C2orf69P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260482 chr16 23670011 23675499 + AC008870.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000260483 chr15 75022980 75023256 + AC015720.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260484 chr8 53388701 53390872 - AC131902.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260487 chr16 30480588 30481346 - AC116348.1 antisense 0 1 2 0 0 0 0 1 0 ENSG00000260488 chr16 11976851 11977850 - AC007216.1 antisense 0 0 0 0 0 0 4 0 2 ENSG00000260490 chr15 42571927 42572433 + MYL12BP1 processed_pseudogene 2 2 6 2 1 3 1 0 0 ENSG00000260492 chr12 53750447 53757034 - CISTR lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260493 chr8 85172077 85177062 - AC011773.4 antisense 102723322 0 0 0 0 0 0 0 1 0 ENSG00000260494 chr16 30537202 30538231 - AC002310.3 unprocessed_pseudogene 0 0 1 0 0 4 0 0 0 ENSG00000260495 chr16 81310731 81313423 - AC009148.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260496 chr16 991151 1000926 - AC009041.1 lincRNA 6 1 2 7 11 15 0 2 9 ENSG00000260497 chr16 47760780 47760921 - AC141846.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260498 chr16 87773488 87779374 - AC126696.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260500 chr19 7918652 7919157 - AC010336.2 antisense 0 0 0 0 0 0 2 0 0 ENSG00000260504 chr16 84342464 84343407 - AC010551.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260505 chr1 220401122 220404033 + AC096644.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260507 chr16 90105095 90106316 - AC133919.1 lincRNA 113 219 177 81 220 258 133 211 165 ENSG00000260509 chr13 25300124 25301438 - AL590787.1 lincRNA 1 0 0 6 3 1 1 3 0 ENSG00000260510 chr16 20743663 20766620 - AC004381.1 antisense 0 1 0 2 0 0 0 0 0 ENSG00000260511 chr16 79105957 79110882 + AC009145.2 sense_intronic 0 1 0 0 0 0 0 0 0 ENSG00000260514 chr16 29624517 29624825 + AC009086.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260515 chr5 10195121 10197628 - AC034229.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260516 chr16 32356981 32363695 - AC133548.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260517 chr16 29139661 29216706 + AC009093.2 lincRNA 28 23 22 13 29 14 42 21 35 ENSG00000260518 chr16 33687025 33707213 - BMS1P8 transcribed_unprocessed_pseudogene 0 0 0 0 3 0 0 0 0 ENSG00000260519 chr4 42657496 42657928 + AC096734.2 antisense 0 0 0 2 0 0 0 0 0 ENSG00000260520 chr16 71513863 71517849 + AC010547.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260522 chr16 35722268 35722529 - AC106785.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260524 chr7 99872168 99872258 + CYP3A52P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260525 chr16 33875039 33875468 - AC140658.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260526 chr4 112229561 112231596 - AC109347.1 antisense 0 1 2 3 2 2 6 0 3 ENSG00000260528 chr16 90102271 90178344 + FAM157C lincRNA 608 1507 1162 508 1659 959 1404 1327 1858 ENSG00000260530 chr16 84295498 84296985 - AC010551.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260532 chr16 1111627 1113399 + AL031598.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260534 chr15 72589691 72591845 + AC100827.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000260536 chr20 32843128 32854257 - AL035071.2 antisense 7 11 5 40 70 41 31 26 27 ENSG00000260537 chr16 70299194 70372582 + AC012184.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000260540 chr16 32199902 32202822 + ABHD17AP8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260541 chr16 1841020 1843547 - AL031722.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000260542 chr20 62513909 62516096 - AL499627.1 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000260545 chr16 58116885 58119353 + AC026771.1 antisense 16 20 30 90 92 68 53 49 65 ENSG00000260548 chrX 108722070 108732687 - AL035425.2 protein_coding IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008]. 8471 GO:0005886, GO:0005886, GO:0005829, plasma membrane, plasma membrane, cytosol, GO:0043548, GO:0005515, GO:0005158, phosphatidylinositol 3-kinase binding, protein binding, insulin receptor binding, GO:0008286, GO:0007165, insulin receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000260549 chr16 56617476 56618818 + MT1L transcribed_unprocessed_pseudogene 4500 0 0 0 0 0 3 0 0 0 ENSG00000260550 chr16 18570448 18571683 - AC136618.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000260551 chr15 24162754 24169948 - PWRN2 lincRNA 791115 0 0 0 0 0 0 0 0 0 ENSG00000260552 chr18 36179996 36187448 - AC023043.1 antisense 101927809 1 0 2 0 2 0 0 3 0 ENSG00000260555 chr7 150000752 150005124 + AC092681.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260558 chr16 66738238 66739722 + AC018557.2 lincRNA 2 1 1 2 1 0 0 0 0 ENSG00000260563 chr17 82293716 82294910 + AC132872.1 lincRNA 256 254 305 554 485 773 562 431 578 ENSG00000260564 chr9 79889001 79892007 + AL161912.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260565 chr16 2660349 2673444 - ERVK13-1 processed_transcript 64 83 80 119 88 145 144 85 128 ENSG00000260566 chr16 23061406 23064173 - AC127459.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000260568 chr16 31699676 31700465 - AC074050.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260569 chr18 74211391 74240555 - AC090398.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260570 chr16 28830612 28837200 - AC133550.1 antisense 81 134 123 106 110 120 113 98 103 ENSG00000260571 chr15 42313687 42314386 + BNIP3P5 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000260572 chr3 160753428 160755142 - AC069224.1 antisense 0 1 0 0 1 0 1 0 0 ENSG00000260573 chr16 50407666 50546347 + AC007493.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260574 chr6 81969453 81969539 - AL360157.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260575 chr16 32250620 32254422 - AC133485.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260576 chr15 72041194 72041653 - EIF5A2P1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000260577 chr16 68644248 68646168 - AC126773.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260578 chr18 67481791 67484966 - AC110597.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260579 chr15 83113617 83114566 - AC024270.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260580 chr16 26721874 26729126 + AC009035.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260581 chr5 151652275 151655449 + AC011374.1 antisense 105378231 0 0 0 0 0 1 0 0 5 ENSG00000260582 chr15 36626674 36627775 - TPST2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260583 chr21 25582770 25583326 - LINC00515 antisense 0 0 0 2 0 0 2 0 0 ENSG00000260584 chr16 32116700 32116997 + AC142381.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260585 chrX 121871869 121876865 + AL359851.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260586 chr15 71332120 71352460 + AC064799.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260588 chr8 41828165 41829934 - AC027702.1 lincRNA 0 1 1 1 1 0 2 0 6 ENSG00000260589 chr10 17641284 17643878 - STAM-AS1 antisense 102723166 0 1 1 0 0 0 0 0 1 ENSG00000260590 chr16 35193335 35193734 + AC023824.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260592 chr16 19476916 19487899 - AC130456.3 antisense 1 1 0 10 0 6 0 0 0 ENSG00000260593 chr16 71623708 71626816 - AC009097.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260594 chr16 80736360 80742305 + AC099313.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260595 chr11 50053410 50054309 - OR4C49P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260596 chr4 190173774 190185942 + DUX4 protein_coding This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 100288687 GO:0031965, GO:0005829, GO:0005794, GO:0005730, GO:0005654, GO:0005634, GO:0005634, nuclear membrane, cytosol, Golgi apparatus, nucleolus, nucleoplasm, nucleus, nucleus, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000978, GO:0000977, GO:0000976, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0070317, GO:0045944, GO:0008285, GO:0007275, GO:0006915, GO:0006357, negative regulation of G0 to G1 transition, positive regulation of transcription by RNA polymerase II, negative regulation of cell population proliferation, multicellular organism development, apoptotic process, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000260597 chr12 54019910 54022589 + AC012531.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260598 chr16 35405747 35407349 - FRG2IP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260599 chr19 22520995 22527949 - AC011467.1 sense_intronic 101929124 0 0 0 0 0 0 0 0 0 ENSG00000260600 chr16 61691756 61693750 - AC092125.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260601 chr16 12545482 12546684 + AC131391.1 sense_intronic 1 2 1 0 2 0 0 0 1 ENSG00000260602 chr15 68254549 68254939 + HMGN2P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260603 chr16 87892938 87893685 - AC133539.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260604 chr6 3904920 3911979 - AL590004.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260605 chr16 51035118 51038764 - AC027688.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260608 chr15 83012661 83061845 + AC024270.4 antisense 0 0 0 0 0 4 0 0 0 ENSG00000260610 chr16 32931768 32932569 - AC142086.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260611 chr16 35785569 35786887 - AC106785.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260612 chr16 71726975 71727992 + AC009097.3 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000260613 chr22 49832616 49837786 - Z98885.2 lincRNA 0 0 2 2 0 0 1 1 0 ENSG00000260615 chr13 114346167 114346637 + RPL23AP97 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000260616 chr16 50783859 50803338 - AC007728.1 antisense 37 48 61 28 35 64 48 22 20 ENSG00000260617 chr16 88741631 88742367 + AC138028.5 antisense 2 4 4 15 1 8 6 6 7 ENSG00000260618 chr15 52577842 52598709 + AC025917.1 antisense 148 190 250 94 187 183 137 100 139 ENSG00000260619 chr15 80990804 80993258 - AC068870.1 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000260620 chr16 51054728 51056399 - AC027688.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260621 chr16 56409320 56411683 + AC092140.1 antisense 18 9 18 19 5 22 12 0 14 ENSG00000260622 chr2 231810348 231810844 - AC073476.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260624 chr15 73870950 73873366 - AC018943.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260625 chr16 31508471 31509256 + AC026471.2 antisense 3 0 0 0 0 1 0 1 0 ENSG00000260626 chr16 33533816 33534976 - AC136944.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260628 chr16 31975803 32003728 + AC142381.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260629 chr11 5244554 5245546 - BGLT3 lincRNA 103344929 0 0 0 0 0 0 0 0 0 ENSG00000260630 chr16 88663298 88687186 + SNAI3-AS1 antisense 197187 85 93 79 48 92 82 59 55 56 ENSG00000260631 chr16 31680847 31682101 + RBM22P12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260633 chr3 134347288 134349233 - AC010207.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260634 chr2 127024252 127025723 - AC012508.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260635 chr16 22365121 22369047 + AC092338.1 antisense 0 1 5 0 0 2 0 0 2 ENSG00000260639 chr15 34394594 34394931 + AC025678.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260640 chr8 97241742 97242204 - AP003115.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260641 chr4 98658904 98664550 + AC114811.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000260642 chr15 32359538 32367784 + AC139426.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260643 chr16 81053587 81096296 - AC092718.3 protein_coding 1 3 5 0 3 4 2 0 0 ENSG00000260644 chr16 32741314 32776196 + HERC2P5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000260645 chr6 80466958 80469080 + AL359715.2 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000260646 chr16 1512979 1514675 + AL031705.1 lincRNA 1 0 0 1 0 0 0 0 0 ENSG00000260647 chr17 18268080 18268828 + AC127537.1 antisense 0 2 4 0 3 2 5 1 7 ENSG00000260648 chr15 40232082 40236109 + AC020658.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260649 chr16 32189262 32189481 + AC133485.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260650 chr16 66579983 66580716 - AC010542.1 antisense 2 7 3 20 4 11 28 9 21 ENSG00000260651 chr4 102500841 102501319 - AF213884.3 antisense 0 2 1 7 8 17 8 5 33 ENSG00000260653 chr7 57404771 57416203 + AC237221.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260657 chr15 68267792 68277994 - AC107871.2 lincRNA 8 13 3 5 4 0 9 2 7 ENSG00000260658 chr16 63314264 63618046 - AC138305.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260659 chr16 89226807 89228692 - AC009113.2 antisense 6 2 4 7 9 2 8 0 7 ENSG00000260660 chr15 75226401 75234834 - AC113208.2 transcribed_unitary_pseudogene 105376731 108 115 89 206 307 191 235 202 136 ENSG00000260661 chr15 92148752 92331037 - AC116903.2 antisense 34 38 49 39 67 78 57 34 50 ENSG00000260662 chr16 32460266 32460362 - AC138915.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260664 chr16 72425948 72533892 + AC004158.1 lincRNA 0 1 2 2 0 0 0 0 0 ENSG00000260668 chr16 64260570 64261239 - AC093536.1 processed_pseudogene 0 1 0 2 0 1 0 0 0 ENSG00000260669 chr14 24209646 24215987 - AL096870.2 processed_transcript 12 18 17 14 12 19 19 18 34 ENSG00000260670 chr3 72321051 72324027 - AC134508.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260671 chr16 87739771 87747706 - AC010536.2 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000260672 chr15 72615810 72618250 + AC100827.4 lincRNA 0 1 6 1 10 0 7 2 3 ENSG00000260673 chr6 4599287 4602420 - AL034376.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260674 chr15 79743311 79743468 + AC026826.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260675 chr16 17094351 17094927 - AC109446.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260676 chr18 71519962 71578956 - LINC01541 lincRNA 100505776 0 0 0 0 0 0 0 0 0 ENSG00000260677 chr9 97743208 97744935 + AL445531.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260678 chr16 30615256 30615679 - AC093249.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260679 chr11 69921638 69926813 - AP007216.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260680 chr16 35420291 35421209 + AGGF1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260681 chr16 19410729 19411662 - AC130456.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260682 chr16 81961926 81962243 + RN7SKP176 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000260683 chrX 127660631 127662530 - AL591643.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260685 chr15 75950464 75951144 - AC027104.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000260686 chr5 122832356 122834533 + AC008669.1 sense_overlapping 6 2 4 0 0 0 2 4 2 ENSG00000260688 chr16 48470953 48471133 - AC026470.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260689 chr15 57246960 57247893 - HNRNPA3P11 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000260690 chr16 25454339 25454647 - CYCSP39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260691 chr9 67859147 67902094 + ANKRD20A1 protein_coding 84210 GO:0005886, plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000260693 chr15 30540093 30545969 + AC026150.1 lincRNA 2 6 3 4 1 6 1 3 0 ENSG00000260694 chr16 79077376 79078234 - AC009145.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260695 chr16 65861112 65863784 - AC022164.1 lincRNA 3 1 0 0 3 0 0 1 0 ENSG00000260698 chr1 246682108 246685075 + AL591848.3 lincRNA 2 0 5 9 7 2 4 0 0 ENSG00000260701 chr16 77433382 77444336 + AC025284.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260702 chr16 1101260 1105461 - AL031713.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260704 chr13 27953526 27955370 + LINC00543 lincRNA 100132234 0 0 0 0 0 0 0 0 0 ENSG00000260706 chr16 80065836 80167577 + AC022166.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260708 chr22 46761894 46762563 - AL118516.1 antisense 79 121 106 203 152 266 134 151 233 ENSG00000260710 chr16 1294551 1299166 - AC120498.4 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000260711 chr14 91752856 91759798 - AL121839.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260714 chr16 25015978 25021023 + AC133552.1 processed_pseudogene 0 0 0 0 0 3 0 1 0 ENSG00000260715 chr16 64155169 64156574 + AC093536.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260719 chr16 29745247 29748299 + AC009133.3 antisense 52 74 84 50 44 40 47 36 38 ENSG00000260720 chr9 31371611 31381490 - LINC01243 lincRNA 101929620 0 0 0 0 0 0 0 0 0 ENSG00000260721 chr8 1368642 1369833 - AF067845.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260722 chr16 31801585 31802497 - VN1R67P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260723 chr16 12372812 12373899 + AC007598.1 sense_intronic 0 0 5 0 2 3 1 0 0 ENSG00000260724 chr16 35134514 35135075 + VN1R69P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260725 chr19 28418483 28429490 - AC005307.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260726 chr16 48718083 48719143 + KLF8P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260727 chr16 29613104 29613640 - SLC7A5P1 unprocessed_pseudogene 6 1 5 4 5 0 0 8 0 ENSG00000260729 chr15 72284727 72375981 - AC009690.1 protein_coding 1 1 1 51 36 25 19 31 8 ENSG00000260731 chr16 78048483 78049897 - KRT8P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260733 chr16 78495926 78506568 - AC046158.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260734 chr16 71430262 71442060 - TLE7 protein_coding 102723796 GO:0005667, GO:0005634, transcription regulator complex, nucleus, GO:0070491, GO:0003714, repressing transcription factor binding, transcription corepressor activity, GO:1903507, GO:0090090, GO:0006355, negative regulation of nucleic acid-templated transcription, negative regulation of canonical Wnt signaling pathway, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000260735 chr16 15094411 15109197 + AC139256.1 transcribed_processed_pseudogene 100505915 0 0 0 0 0 0 0 1 0 ENSG00000260737 chr16 80566794 80572808 - LINC01227 lincRNA 101928276 0 0 0 0 0 0 0 0 0 ENSG00000260738 chr13 99994899 99997909 - LINC00554 antisense 100861542 0 0 0 0 0 0 0 0 0 ENSG00000260739 chr15 22145939 22148226 - AC010760.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260740 chr16 31487370 31488492 - AC026471.3 antisense 0 0 0 3 0 6 4 0 0 ENSG00000260741 chr16 23194878 23213104 - AC099482.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260742 chr2 181887851 181891663 - AC009962.1 antisense 15 20 12 4 5 3 6 1 7 ENSG00000260743 chr3 179340322 179341887 + AC007823.1 lincRNA 2 3 0 0 4 0 0 0 0 ENSG00000260744 chr16 47196311 47202429 + AC007494.2 antisense 0 0 1 0 1 0 0 0 6 ENSG00000260746 chr16 35636687 35645180 - KIF18BP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260747 chr18 68277802 68278243 - AC022968.1 processed_pseudogene 2 3 3 0 1 0 0 2 0 ENSG00000260750 chr16 87492555 87515635 + AC092720.1 lincRNA 0 0 4 0 0 3 0 3 0 ENSG00000260751 chr16 23568673 23569696 + AC008870.2 sense_intronic 0 3 3 2 1 6 0 2 1 ENSG00000260755 chr16 66509437 66510048 + AC010542.2 lincRNA 28 17 75 21 29 109 13 18 60 ENSG00000260756 chr16 10351440 10352752 - AC131649.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260757 chr16 31402565 31404699 + AC093520.1 sense_overlapping 3 3 0 0 4 0 1 0 0 ENSG00000260759 chr18 11666456 11670165 - AP001120.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260760 chr15 24441127 24447967 + PWRN3 lincRNA 0 0 0 6 0 0 0 0 0 ENSG00000260761 chr5 25319834 25321346 + AC106754.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260762 chr16 20586550 20607107 - ACSM5P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260763 chr5 4436850 4440259 - AC106799.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260764 chr16 8731416 8731559 - AC007224.1 processed_pseudogene 0 0 0 0 0 0 4 0 0 ENSG00000260765 chr16 55728115 55750111 + CES1P2 unprocessed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000260771 chr6 168374697 168375355 + AL138918.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260772 chr16 69703065 69704652 + AC012321.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000260773 chr15 66314914 66331703 - AC055855.1 antisense 3 2 4 2 8 4 10 2 0 ENSG00000260774 chr5 213898 217279 - AC021087.2 processed_transcript 2 1 0 3 0 0 5 0 0 ENSG00000260776 chr15 77914217 77926846 - AC104758.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260777 chr17 28263634 28266369 - AC061975.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260778 chr16 2268155 2273418 + AC009065.4 lincRNA 106660606 GO:0035195, gene silencing by miRNA, 1 2 3 2 3 1 8 2 0 ENSG00000260779 chr18 10661933 10666887 + AP001180.1 antisense 101927410 0 0 0 0 0 0 0 0 0 ENSG00000260780 chr15 24206784 24225854 + AC087463.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260781 chr16 33907419 33937167 - ARHGAP23P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260782 chr16 46789898 46792040 + AC007225.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260784 chr15 30516079 30517867 + AC026150.2 unprocessed_pseudogene 1 0 0 0 2 0 3 0 0 ENSG00000260785 chr17 71097775 71202177 - CASC17 lincRNA 101928165 0 0 0 0 0 0 0 0 0 ENSG00000260786 chr5 42188266 42191523 + AC108099.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260788 chr16 83721119 83772936 - AC009063.2 antisense 0 0 0 0 0 0 0 0 3 ENSG00000260790 chr16 22374859 22378180 + AC092338.2 antisense 440346 0 0 0 0 0 0 0 0 0 ENSG00000260792 chr14 104661120 104665558 - LINC02280 lincRNA 101929634 0 0 0 0 0 0 0 0 0 ENSG00000260793 chr17 44221401 44223710 + AC003102.1 antisense 13 13 21 23 17 18 18 20 18 ENSG00000260795 chr16 86906175 86906472 - AC093519.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260796 chr16 28820570 28822033 - AC145285.3 antisense 0 0 0 8 2 9 0 0 0 ENSG00000260797 chr16 76878274 76878936 - AC106734.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260798 chr16 68814330 68823526 - AC099314.1 antisense 0 0 0 0 0 3 0 0 0 ENSG00000260799 chr15 42800968 42802405 - KRT8P50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260802 chrX 111511662 111522399 + SERTM2 protein_coding 401613 GO:0043231, GO:0016021, intracellular membrane-bounded organelle, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000260803 chr16 17514 35195 - Z84723.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000260804 chr2 216217045 216220192 + LINC01963 lincRNA 150967 10 13 11 16 37 38 27 21 16 ENSG00000260805 chr1 212557833 212559731 - AC092803.2 lincRNA 9 7 10 458 393 511 440 359 283 ENSG00000260806 chr14 96500810 96502321 - AL163051.1 antisense 1 3 1 0 12 3 0 0 0 ENSG00000260807 chr16 975761 981596 - AC009041.2 lincRNA 115804232 2 13 8 7 11 7 11 5 17 ENSG00000260808 chr11 68612899 68616711 - AP003096.1 lincRNA 102 102 117 75 111 92 70 80 77 ENSG00000260809 chr16 35090501 35104834 + VPS35P1 unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000260810 chr14 91258299 91259003 + AL135818.2 lincRNA 1 10 5 28 39 23 32 15 27 ENSG00000260811 chr11 50032874 50033794 + OR4C45 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 403257 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000260812 chr16 35414279 35414747 - RARRES2P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260814 chr15 41770756 41772732 - AC073657.1 lincRNA 0 2 1 0 1 0 2 0 0 ENSG00000260815 chr15 75746769 75747263 + PPIAP47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260816 chr16 78895361 78899644 + AC027279.1 sense_intronic 0 0 0 3 0 0 0 0 0 ENSG00000260817 chr16 5260686 5261043 - AC074051.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260818 chr16 51277852 51279112 + UNGP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260822 chrX 24545516 24550466 + AC004656.1 sense_overlapping 239 311 315 158 252 303 275 192 332 ENSG00000260823 chr16 56609501 56611375 - AC026461.3 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000260827 chr16 33203773 33206462 - AC138869.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260828 chr16 57603137 57603697 + HMGB3P32 processed_pseudogene 0 0 1 1 0 0 0 0 0 ENSG00000260830 chr14 21384292 21384920 + AL135744.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260832 chr16 82953230 82990298 - AC125793.1 antisense 101928417 0 0 0 0 0 0 0 0 0 ENSG00000260834 chr16 65190973 65234914 - AC009055.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260835 chr16 6573767 6577359 + AC007223.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000260836 chr15 82536788 82573194 - AC245033.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000260838 chr8 72947150 72950445 + AC022893.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260840 chr2 85064108 85067347 - LINC01964 lincRNA 100996478 0 0 0 0 0 0 0 0 0 ENSG00000260844 chr15 28763440 28764151 - AC055876.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260845 chr16 32735909 32741094 - AC138907.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260846 chr16 35335277 35336889 - FRG2HP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260847 chr16 32188333 32193530 + AC133485.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260848 chr16 73543941 73558522 + AC092114.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260850 chr16 51354456 51525157 - AC007344.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260851 chr16 66469812 66517312 - AC010542.3 protein_coding 1 0 2 1 1 5 0 0 9 ENSG00000260852 chr16 30919319 30923269 - FBXL19-AS1 antisense 283932 5 10 14 23 44 4 17 24 34 ENSG00000260853 chr16 28956687 28966883 - AC109460.2 antisense 38 27 42 52 66 44 70 41 48 ENSG00000260854 chr16 34978744 34979844 - LINC02184 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260855 chr1 246772301 246775772 + AL591848.4 lincRNA 0 3 0 0 1 0 4 1 0 ENSG00000260857 chr16 35505093 35506462 - AC018558.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260858 chr16 84255270 84261049 - AC010551.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260859 chr16 84828263 84829242 + AC025280.1 sense_intronic 8 8 12 4 12 19 10 12 9 ENSG00000260860 chr16 68651056 68651948 - AC126773.3 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000260861 chr20 1540144 1620009 - AL049634.2 protein_coding 4 3 4 0 18 4 11 3 0 ENSG00000260862 chr16 82773319 82829638 + AC099506.1 sense_intronic 101928446 0 0 0 0 0 0 0 0 0 ENSG00000260863 chr10 95009674 95009812 + CYP2C60P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260864 chr16 32726615 32729537 - ABHD17AP7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260865 chr16 58597589 58597945 - AC010287.1 transcribed_processed_pseudogene 1 0 0 0 0 0 1 0 0 ENSG00000260866 chr16 32388135 32436200 + AC138915.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000260867 chr16 58197112 58217805 + AC009107.1 antisense 0 0 0 1 0 0 0 0 0 ENSG00000260868 chr2 174025280 174027163 + LINC01960 lincRNA 100128905 8 21 24 6 0 1 3 12 16 ENSG00000260869 chr16 30534227 30558279 - AC002310.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000260870 chr15 57325472 57326447 - NDUFB10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260871 chr5 90388468 90389363 - AC093510.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000260874 chr16 2456252 2459979 - AC106820.5 lincRNA 105371050 0 0 1 0 2 0 1 1 0 ENSG00000260876 chr16 79676108 79807922 + LINC01229 lincRNA 101928248 0 0 0 0 0 0 0 0 0 ENSG00000260877 chr11 69371463 69372512 + AP005233.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260878 chr4 46243548 46244215 - AC104072.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000260879 chr1 108199926 108201491 + AL359258.2 antisense 2 7 10 5 10 8 3 10 0 ENSG00000260880 chr16 73092349 73099337 + HCCAT5 processed_transcript 283902 0 0 0 0 0 0 0 0 0 ENSG00000260882 chr16 5078168 5078605 - AC026458.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260883 chr16 31554105 31554912 + VN1R65P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260884 chr16 74313337 74315634 + AC009120.3 lincRNA 7 21 6 9 25 1 8 7 15 ENSG00000260886 chr16 71565789 71578187 + TAT-AS1 antisense 100132529 0 0 0 0 0 0 0 0 0 ENSG00000260887 chr16 52258564 52280638 + CASC22 lincRNA 283854 0 0 0 0 0 0 0 0 0 ENSG00000260889 chr16 46842632 46844618 - CKBP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260891 chr16 68212401 68221671 - AC020978.3 antisense 5 1 3 5 22 21 16 7 9 ENSG00000260892 chr15 75676227 75677162 + AC105020.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260894 chr16 67542304 67542572 - AC027682.3 antisense 40 69 85 47 47 67 33 21 55 ENSG00000260895 chr11 69103493 69109094 + AP003071.1 lincRNA 4 1 0 0 9 0 6 1 2 ENSG00000260896 chr16 80828735 80892595 - ARLNC1 lincRNA 100996425 0 0 0 0 0 0 4 0 0 ENSG00000260897 chr15 30150872 30153409 - DNM1P30 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260898 chr15 72782835 72798199 + ADPGK-AS1 antisense 100287559 266 216 354 145 216 270 176 168 211 ENSG00000260899 chr16 30740667 30751381 + AC106886.2 processed_transcript 0 0 0 0 0 0 0 2 0 ENSG00000260900 chr16 33059936 33060098 + AC145350.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260902 chr3 14799331 14811414 - LINC02011 lincRNA 152274 0 0 0 0 0 0 0 0 0 ENSG00000260903 chr20 31968002 32003387 + XKR7 protein_coding 343702 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:1902742, GO:0070782, GO:0043652, apoptotic process involved in development, phosphatidylserine exposure on apoptotic cell surface, engulfment of apoptotic cell, 4 5 6 3 4 3 8 5 0 ENSG00000260905 chr16 22612543 22613483 - AC009021.1 lincRNA 0 0 0 0 5 4 0 0 0 ENSG00000260907 chr17 20530042 20530881 - AC015818.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260908 chr16 29053732 29108108 - AC009093.3 transcribed_unprocessed_pseudogene 1 5 3 1 1 8 1 1 0 ENSG00000260909 chr16 46649126 46649849 + AC012186.1 unprocessed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000260910 chr13 113926514 113928844 - LINC00565 lincRNA 4 2 10 9 0 6 10 1 11 ENSG00000260911 chr16 31043150 31049868 + AC135050.3 lincRNA 27 45 20 74 90 127 80 57 42 ENSG00000260912 chr9 19453209 19455173 + AL158206.1 sense_overlapping 3 2 9 6 1 2 0 2 2 ENSG00000260913 chr18 10405133 10414515 - LINC01254 lincRNA 101927350 0 0 0 0 0 0 0 0 0 ENSG00000260914 chr16 69299682 69322700 + AC026464.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000260916 chr15 55340032 55408510 - CCPG1 protein_coding 9236 GO:0016021, GO:0016020, integral component of membrane, membrane, GO:0005515, GO:0003674, protein binding, molecular_function, GO:2001106, GO:0045944, GO:0045787, GO:0008284, GO:0007049, regulation of Rho guanyl-nucleotide exchange factor activity, positive regulation of transcription by RNA polymerase II, positive regulation of cell cycle, positive regulation of cell population proliferation, cell cycle, 793 823 923 310 734 523 351 529 414 ENSG00000260917 chr10 112823490 112827726 + AL158212.3 sense_overlapping 103344931 30 42 38 52 80 47 55 43 32 ENSG00000260918 chr4 47431960 47438959 + AC107398.3 sense_overlapping 2 0 0 0 3 0 4 1 0 ENSG00000260919 chr15 74613194 74615596 - AC100835.1 antisense 4 1 1 0 2 1 0 1 6 ENSG00000260920 chr1 40464319 40466767 + AL031985.3 sense_overlapping 16 6 14 28 12 24 18 9 22 ENSG00000260921 chr16 32995537 32996770 + AC142086.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260922 chr16 77234877 77299950 + AC009139.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260923 chr16 90173217 90222678 + LINC02193 lincRNA 6 78 42 7 91 16 9 53 38 ENSG00000260924 chr22 19171395 19172839 + LINC01311 antisense 1 1 6 1 3 4 5 0 0 ENSG00000260926 chr15 41609466 41612727 - AC016134.1 lincRNA 105370791 0 0 0 0 0 0 0 0 0 ENSG00000260927 chr16 58129529 58159133 + AC009107.2 antisense 101927556 1 0 0 0 0 0 0 2 0 ENSG00000260928 chr15 43131008 43131686 + SPCS2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260930 chr18 55881688 55920199 - LINC01416 lincRNA 101927273 0 0 0 0 0 0 0 0 0 ENSG00000260932 chr16 83929796 83931223 - AC009119.3 antisense 0 4 1 0 3 3 2 4 0 ENSG00000260933 chr16 18170356 18170959 + AC091489.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260934 chr16 19501689 19502286 + AC130456.5 antisense 63 103 51 25 81 30 28 97 35 ENSG00000260937 chr15 55056747 55092173 + AC025272.1 lincRNA 105370829 0 0 0 0 0 0 0 0 0 ENSG00000260939 chr16 53010395 53011286 - AC007346.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260941 chr1 119597702 119599271 - LINC00622 sense_overlapping 644242 0 0 0 5 5 4 0 0 0 ENSG00000260942 chr2 240582700 240586699 - CAPN10-DT antisense 29 29 20 25 16 20 26 15 10 ENSG00000260943 chr12 40140926 40142876 - LINC02555 lincRNA 46 27 95 22 37 14 24 14 14 ENSG00000260944 chr16 86565145 86567761 - FOXC2-AS1 antisense 103752587 0 0 0 0 0 0 0 0 0 ENSG00000260945 chr16 17540331 17540985 - AC109495.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260947 chr9 33697459 33700986 + AL356489.2 lincRNA 0 0 0 0 2 0 4 0 0 ENSG00000260948 chr1 111431046 111433068 - AL390195.2 sense_overlapping 5 7 1 19 1 0 9 2 7 ENSG00000260949 chr8 38062881 38063791 + AP006545.1 sense_overlapping 2 0 0 0 0 0 0 0 0 ENSG00000260951 chr7 25358240 25359908 - AC003985.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260953 chr16 29262273 29264479 - AC009093.4 lincRNA 0 3 5 2 2 7 5 3 2 ENSG00000260954 chr16 1579242 1580308 - AL133297.1 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000260955 chr8 54042989 54045629 - AC100821.2 lincRNA 1 1 0 0 3 1 1 1 0 ENSG00000260957 chr15 62284190 62285006 + AC126323.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260958 chr16 35207937 35284146 + AC023824.3 lincRNA 105371200 0 0 0 0 0 0 0 0 0 ENSG00000260959 chr15 24238145 24240192 - AC087463.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260962 chr13 94960041 94961319 + LINC00557 lincRNA 100861544 0 0 0 0 0 0 0 0 0 ENSG00000260963 chr16 52607349 52613908 + AC026462.3 lincRNA 105371264 0 0 0 0 0 0 0 0 0 ENSG00000260965 chr16 57321352 57322117 + RPL23AP91 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260966 chr11 103050687 103055799 - AP001486.2 sense_overlapping 3 3 7 13 4 5 6 3 5 ENSG00000260967 chr16 35221583 35222048 - RARRES2P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260969 chr16 78237362 78241218 - WWOX-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260970 chr9 119495375 119524125 + AC006288.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260971 chr1 56154545 56477687 - AC119674.1 lincRNA 0 0 0 1 0 1 0 0 0 ENSG00000260972 chr1 5492978 5494674 + Z98259.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260973 chr16 22610531 22612196 - AC009021.2 lincRNA 0 0 0 5 7 9 3 3 9 ENSG00000260974 chr16 32675037 32678831 + AC138907.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260975 chr16 52198012 52227956 - AC007333.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260976 chr1 185001527 185008683 + LINC01633 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260978 chr15 23567264 23569657 - AC126407.1 antisense 0 0 0 1 3 0 1 0 0 ENSG00000260979 chr16 8962706 8966990 + AC022167.3 lincRNA 1 2 1 5 0 0 3 3 2 ENSG00000260981 chr5 8785042 8785468 - AC091932.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260983 chr16 76228385 76262365 - AC010528.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260984 chr16 35232412 35235984 - FGFR3P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260986 chr15 21127698 21130095 - AC126335.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260988 chr15 78141243 78143173 + AC090260.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000260989 chr16 1580527 1610328 + AL133297.2 antisense 105371046 0 0 0 0 0 0 0 0 0 ENSG00000260990 chr1 175307218 175335459 + Z94057.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000260991 chr16 1280161 1280544 - AC120498.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260992 chr13 99087819 99088625 + DOCK9-DT antisense 2 1 2 1 0 0 0 0 1 ENSG00000260994 chr16 35547917 35548829 + AGGF1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000260995 chr9 79135422 79198314 - AL512634.1 lincRNA 101927450 0 0 0 4 0 0 0 0 0 ENSG00000260996 chr9 137293868 137295721 - BX255925.1 sense_overlapping 1 3 1 9 2 4 4 4 2 ENSG00000260997 chr7 44958999 44960909 - AC004847.1 sense_overlapping 16 20 40 25 40 81 37 40 41 ENSG00000260999 chr16 68927547 68948261 - AC009137.1 lincRNA 0 1 4 0 0 6 3 0 6 ENSG00000261000 chr1 206503948 206504456 + AC244034.2 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000261002 chr15 42208413 42226990 + AC036103.1 antisense 57 39 57 41 64 83 59 34 68 ENSG00000261003 chr6 170414139 170419325 + AL008628.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261007 chr16 5365797 5366688 + AC074051.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261008 chr16 72283301 72665009 - LINC01572 lincRNA 101927957 0 1 3 0 0 2 0 0 0 ENSG00000261009 chr16 33370473 33372915 - AC141257.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261010 chr16 35255192 35255633 - RARRES2P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261011 chr10 87001636 87009905 + AL136982.4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261012 chr2 20999313 21000917 - AC115619.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261014 chr16 63730277 63754757 + LINC02165 lincRNA 101927629 0 0 0 0 0 0 0 0 0 ENSG00000261017 chr16 48059671 48059995 - AC096996.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261018 chr9 133611798 133633099 - AC002101.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261019 chr7 42901272 42902639 - AC010132.4 lincRNA 4 5 9 0 6 2 8 9 0 ENSG00000261020 chr17 22420022 22424731 + AC132825.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261024 chr1 185321157 185335039 - GS1-279B7.1 transcribed_processed_pseudogene 100288079 4 24 20 6 13 29 10 23 27 ENSG00000261025 chr1 24968423 24970865 - AL445471.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261026 chr8 22679013 22684009 - AC105046.1 sense_overlapping 224 333 310 148 409 392 238 269 300 ENSG00000261028 chr16 64242608 64343909 - AC012322.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261029 chr16 82170296 82175803 + AC138304.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261030 chrX 13093660 13094573 + AC079171.1 lincRNA 1 0 1 2 0 1 0 0 4 ENSG00000261033 chr17 20008051 20009234 - AC005730.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000261035 chr20 60812004 60814211 - AL139348.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261036 chr5 120345907 120404837 - AC113418.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261037 chr5 6019029 6022283 - AC010266.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261038 chr6 92387841 92388827 - AL133457.1 lincRNA 0 0 2 0 0 1 0 0 0 ENSG00000261039 chr6 169175304 169182740 - LINC02544 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261040 chr17 60083566 60091885 - WFDC21P transcribed_unitary_pseudogene 3 6 5 1 4 0 1 3 1 ENSG00000261041 chr15 28545912 28549777 + AC138749.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261043 chr15 75759501 75762405 - AC019294.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261044 chr8 142620373 142621064 + AP006547.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261045 chr16 27158451 27176587 - LINC02129 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261046 chr16 35552909 35554001 + C2orf69P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261047 chr16 51244054 51244123 + AC137527.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261048 chr15 20890206 20890606 - AC012414.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261049 chr16 54033997 54054583 - AC007347.1 antisense 0 0 1 0 0 0 2 0 0 ENSG00000261051 chr3 146059585 146061679 - AC107021.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261052 chr16 30199228 30204310 + SULT1A3 protein_coding Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Read-through transcription exists between this gene and the upstream SLX1A (SLX1 structure-specific endonuclease subunit homolog A) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]. 6818 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0047685, GO:0043199, GO:0008146, GO:0008146, GO:0005515, GO:0004062, GO:0004062, amine sulfotransferase activity, sulfate binding, sulfotransferase activity, sulfotransferase activity, protein binding, aryl sulfotransferase activity, aryl sulfotransferase activity, GO:1903351, GO:1901215, GO:0098989, GO:0097720, GO:0070371, GO:0051923, GO:0051923, GO:0050427, GO:0050427, GO:0042420, GO:0036498, GO:0009812, GO:0008202, GO:0007212, GO:0006805, GO:0006068, cellular response to dopamine, negative regulation of neuron death, NMDA selective glutamate receptor signaling pathway, calcineurin-mediated signaling, ERK1 and ERK2 cascade, sulfation, sulfation, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, 3'-phosphoadenosine 5'-phosphosulfate metabolic process, dopamine catabolic process, IRE1-mediated unfolded protein response, flavonoid metabolic process, steroid metabolic process, dopamine receptor signaling pathway, xenobiotic metabolic process, ethanol catabolic process, 0 1 0 0 4 0 0 0 0 ENSG00000261053 chr16 35085896 35086119 + NAMPTP3 processed_pseudogene 0 0 1 0 1 0 1 1 0 ENSG00000261054 chr15 99128832 99131806 - AC036108.2 antisense 16 1 43 18 3 23 28 5 21 ENSG00000261055 chr1 109895973 109897861 + AL450468.2 lincRNA 23 34 50 4 16 16 15 6 18 ENSG00000261056 chr16 53298224 53299792 + AC079416.1 transcribed_processed_pseudogene 9 7 3 8 7 1 1 4 1 ENSG00000261057 chr13 102589372 102589813 - LINC00555 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261058 chr16 75119558 75144200 + AC099508.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261060 chr1 179590372 179591305 + AL160286.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261061 chr16 81030770 81031485 + AC092718.4 sense_intronic 6 4 7 6 9 4 14 7 12 ENSG00000261063 chr16 77201474 77249957 - AC009139.2 antisense 113 137 128 170 193 337 174 148 230 ENSG00000261064 chr15 32536047 32587613 + LINC02256 lincRNA 3 0 1 0 0 5 0 2 0 ENSG00000261065 chr1 204131062 204131966 + AL592146.1 antisense 0 0 2 3 1 0 2 0 3 ENSG00000261066 chr16 8526549 8532013 - AC074052.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261067 chr16 28974804 28990775 + AC109460.3 processed_transcript 2 2 2 13 12 7 12 2 6 ENSG00000261068 chr6 42092233 42094259 - AL512274.1 lincRNA 4 2 0 2 6 0 5 0 1 ENSG00000261069 chr15 25087661 25088896 + AC124312.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261070 chr11 69147228 69171564 - AP003071.2 lincRNA 338694 0 0 0 0 1 0 0 0 0 ENSG00000261071 chr6 13614111 13615155 - AL441883.1 antisense 4 2 3 9 3 0 5 3 3 ENSG00000261072 chr15 56192353 56193262 - AC084783.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261075 chr16 9446010 9455505 - LINC01195 lincRNA 104266959 0 0 0 0 0 0 0 0 0 ENSG00000261076 chr10 58325614 58327030 - AC016396.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261077 chr15 86139838 86140240 - AC016180.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261078 chr16 58382989 58383798 - AC009118.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261079 chr16 74367462 74369826 + AC009053.2 lincRNA 4 8 6 28 60 36 37 42 14 ENSG00000261080 chr6 45573346 45576770 - RUNX2-AS1 lincRNA 0 0 0 0 0 0 0 2 2 ENSG00000261081 chr15 34409625 34410594 + AC025678.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261082 chr16 79798050 79827150 - LINC01228 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261083 chr4 124499942 124558434 - LINC02516 lincRNA 101927087 0 0 0 0 0 0 0 0 0 ENSG00000261084 chr16 35912120 35912516 + PPP1R1AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261087 chr8 101166805 101169629 - AP003469.4 lincRNA 2 3 4 4 2 16 8 3 2 ENSG00000261089 chr16 28413703 28415018 + CDC37P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261090 chr16 23020337 23023611 + AC127459.2 lincRNA 112268176 0 0 0 0 0 0 0 0 0 ENSG00000261092 chr16 50390916 50395133 - LINC02178 lincRNA 105371248 0 0 0 0 0 0 0 0 0 ENSG00000261093 chr16 2597881 2599718 - AC141586.3 antisense 298 324 399 214 299 327 286 243 264 ENSG00000261094 chr9 122937623 122940333 + AC007066.2 sense_overlapping 26 27 42 11 7 33 18 22 41 ENSG00000261095 chr16 87212122 87226430 + AC136285.1 lincRNA 101928708 0 0 0 0 0 0 0 0 0 ENSG00000261096 chr2 231809846 231812352 + AC073476.3 sense_overlapping 2 1 3 0 0 0 0 1 6 ENSG00000261097 chr13 46296445 46297844 - LINC00563 lincRNA 100861554 0 0 1 0 2 0 3 0 0 ENSG00000261098 chr11 107312132 107316271 - AP000766.1 lincRNA 12 16 7 18 12 28 22 13 15 ENSG00000261101 chrX 101627868 101628523 + AC234775.3 sense_overlapping 6 8 15 27 23 30 20 24 44 ENSG00000261102 chr15 66414933 66415198 - ATP5MFP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261103 chr16 83710179 83717898 - AC009063.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261104 chr2 9106593 9109865 + AC093904.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261105 chr13 75604700 75635994 - LMO7-AS1 antisense 101927155 1 2 0 7 4 17 0 3 3 ENSG00000261108 chr16 32739627 32740166 - AC138907.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261111 chr16 32635673 32636045 - AC133569.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261113 chr16 22286708 22288738 - AC009034.1 antisense 2 1 2 5 0 3 0 2 0 ENSG00000261114 chr16 56941028 56941726 + AC012181.1 sense_intronic 4 5 8 129 135 114 102 84 50 ENSG00000261115 chr7 141074232 141480380 + TMEM178B protein_coding 100507421 GO:0016021, GO:0016020, integral component of membrane, membrane, 1 0 0 3 0 0 2 0 4 ENSG00000261116 chr6 54943167 54945099 + AL049555.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261117 chr2 12715415 12716227 + AC009486.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000261118 chr16 89492017 89504460 - AC092123.1 antisense 24 31 21 10 11 7 20 17 13 ENSG00000261120 chr14 59919423 59920339 - AL133299.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261121 chr4 24659856 24671568 + LINC02473 lincRNA 107986266 0 0 0 0 0 0 0 0 0 ENSG00000261122 chr16 35743268 35756515 + LINC02167 lincRNA 400533 0 0 0 0 0 0 0 0 0 ENSG00000261123 chr16 2094830 2097026 - AC009065.5 sense_intronic 0 0 1 0 3 0 0 0 0 ENSG00000261124 chr16 31065495 31069246 + AC135050.4 antisense 3 1 1 18 24 24 7 17 17 ENSG00000261126 chr18 80046900 80095482 + RBFADN lincRNA 0 0 0 0 0 0 4 0 0 ENSG00000261127 chr16 32289547 32310555 - AC133548.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261129 chr4 144505900 144509001 + AC106871.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261130 chr16 15395754 15515348 + AC140504.1 protein_coding 255027 GO:0043231, GO:0016021, GO:0005778, GO:0005739, GO:0005739, GO:0005737, intracellular membrane-bounded organelle, integral component of membrane, peroxisomal membrane, mitochondrion, mitochondrion, cytoplasm, GO:0003674, molecular_function, GO:1901029, GO:0010730, negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway, negative regulation of hydrogen peroxide biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000261131 chr16 46660696 46661591 - AC012186.2 sense_intronic 0 4 2 4 1 0 3 2 4 ENSG00000261135 chr1 16514645 16515754 + AL137802.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261136 chr15 39782571 39785617 + AC023908.3 antisense 0 1 2 3 0 0 2 0 2 ENSG00000261140 chr16 2569043 2571936 - AC093525.4 antisense 5 17 5 7 9 7 8 15 12 ENSG00000261141 chr16 81055301 81056426 + AC092718.5 antisense 1 0 3 0 1 0 0 0 0 ENSG00000261143 chr15 77976042 77993057 + ADAMTS7P3 transcribed_unprocessed_pseudogene 1 1 0 4 5 2 5 9 0 ENSG00000261144 chr16 59166951 59167152 - AC092121.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261145 chr16 70202354 70202459 + AC009060.2 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000261146 chr3 137791973 137796678 + AC007159.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261147 chr15 90249556 90272208 + AC091167.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000261150 chr8 143857324 143878464 - EPPK1 protein_coding The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]. 83481 GO:0097356, GO:0071944, GO:0045095, GO:0045095, GO:0042995, GO:0030056, GO:0030054, GO:0016327, GO:0016323, GO:0016020, GO:0005923, GO:0005882, GO:0005856, GO:0005737, perinucleolar compartment, cell periphery, keratin filament, keratin filament, cell projection, hemidesmosome, cell junction, apicolateral plasma membrane, basolateral plasma membrane, membrane, bicellular tight junction, intermediate filament, cytoskeleton, cytoplasm, GO:1990254, GO:0019215, GO:0005198, GO:0003723, keratin filament binding, intermediate filament binding, structural molecule activity, RNA binding, GO:1905041, GO:0061045, GO:0051548, GO:0050680, GO:0045110, GO:0045109, GO:0045109, GO:0045109, GO:0045104, GO:0042060, GO:0042060, GO:0030336, GO:0010839, regulation of epithelium regeneration, negative regulation of wound healing, negative regulation of keratinocyte migration, negative regulation of epithelial cell proliferation, intermediate filament bundle assembly, intermediate filament organization, intermediate filament organization, intermediate filament organization, intermediate filament cytoskeleton organization, wound healing, wound healing, negative regulation of cell migration, negative regulation of keratinocyte proliferation, 5 1 16 10 7 16 17 4 13 ENSG00000261151 chr16 58092053 58092947 - AC012182.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261153 chr16 33808778 33810767 + AC136428.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261154 chr16 77590806 77610681 + LINC02131 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261156 chr17 34169372 34195937 - LINC01989 lincRNA 101927239 0 0 0 0 0 0 0 0 0 ENSG00000261158 chr16 12759282 12761162 + AC109597.2 antisense 19 30 28 10 16 23 27 28 19 ENSG00000261159 chr3 128859716 128860526 - AC112484.3 lincRNA 1 4 0 4 3 5 0 2 5 ENSG00000261161 chr16 86646301 86668923 + AC009154.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261166 chr4 136097797 136099240 - AC073429.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261167 chr3 131455126 131458598 - AC107027.3 sense_overlapping 0 0 1 0 0 2 4 0 2 ENSG00000261168 chr1 151130075 151131610 - AL592424.1 sense_overlapping 2 0 0 1 0 3 0 0 3 ENSG00000261170 chr16 74422120 74435254 + AC009053.3 antisense 107984827 0 0 0 0 0 0 0 0 0 ENSG00000261172 chr16 90110574 90168225 - AC133919.2 lincRNA 95 147 223 163 183 52 392 133 353 ENSG00000261173 chr16 46973989 46978983 + AC018845.3 antisense 0 0 1 0 0 0 0 1 1 ENSG00000261174 chr15 56323193 56323719 + HMGB1P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261175 chr16 86710122 86742083 + LINC02188 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261177 chr16 86081409 86089526 - AC135012.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261178 chr16 60925733 60928541 - AC009169.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261181 chr16 16394912 16398594 - AC136619.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261182 chr1 188218400 188220676 + AL596211.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261183 chr15 40835808 40844387 - SPINT1-AS1 antisense 0 2 1 1 0 0 2 2 0 ENSG00000261184 chr7 36095272 36100653 + AC083864.3 lincRNA 101928618 0 0 0 0 0 0 0 0 0 ENSG00000261186 chr2 242087351 242088457 - LINC01238 antisense 102723927 0 0 0 0 0 0 0 0 0 ENSG00000261187 chr15 72465128 72466262 - AC079322.1 lincRNA 11 15 4 15 10 10 26 10 34 ENSG00000261188 chr22 26512537 26514568 + Z95115.1 antisense 0 0 2 11 1 2 0 0 2 ENSG00000261189 chr6 7540451 7541338 - AL031058.1 antisense 0 0 0 0 0 0 0 0 3 ENSG00000261190 chr16 52005487 52078474 - C16orf97 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000261191 chr15 36641186 36669097 - AC013640.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261192 chr17 57045478 57046797 + RNF126P1 transcribed_processed_pseudogene 376412 0 0 0 0 0 0 0 0 0 ENSG00000261193 chr16 88079161 88087383 - AC134312.4 lincRNA 0 0 0 1 0 3 0 2 0 ENSG00000261194 chr18 75696079 75712385 - LINC01898 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261195 chr16 19761172 19766099 - AC027130.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261196 chr1 46994382 46994502 - CYP4A43P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261197 chr16 34051140 34051363 + AC133561.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261198 chr16 7614230 7614992 - AC005774.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261199 chr16 63180610 63181071 - UBE2FP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261200 chr16 33541842 33545812 - AC136944.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261202 chr22 40043068 40044530 - Z83847.1 antisense 114841040 8 4 2 10 3 8 14 7 7 ENSG00000261203 chr16 30218220 30221930 + AC106782.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261204 chr19 637105 637537 - AC004449.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261205 chr15 75251743 75252934 - NIFKP4 processed_pseudogene 2 0 0 0 0 0 0 0 2 ENSG00000261206 chr13 75932395 75935132 - LINC00561 lincRNA 100861545 0 0 0 0 0 0 0 0 0 ENSG00000261207 chr16 1751559 1752262 - AL031717.1 antisense 9 25 11 11 20 8 31 31 13 ENSG00000261208 chr14 52286797 52289268 + AL365475.1 processed_pseudogene 2 0 2 6 0 0 2 3 0 ENSG00000261209 chr2 108317725 108318611 + SULT1C2P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261210 chr16 19285739 19322145 + CLEC19A protein_coding 728276 GO:0005576, extracellular region, GO:0030246, GO:0005515, carbohydrate binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000261211 chr6 6680309 6683633 - AL031123.2 lincRNA 8 4 13 6 13 13 13 4 19 ENSG00000261212 chrX 141173235 141173588 - AC234778.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261213 chr1 75122518 75123927 - AC099786.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261215 chr9 34661903 34666029 - AL162231.4 processed_transcript 0 0 0 3 0 0 5 0 0 ENSG00000261216 chr16 11908208 11908916 + AC007216.2 antisense 1 0 0 0 4 0 0 0 0 ENSG00000261217 chr16 33988406 33991551 - BCAP31P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261218 chr16 81738248 81767868 + AC099524.1 lincRNA 55 64 75 34 67 41 52 50 32 ENSG00000261219 chr15 57720295 57720928 + AC090651.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261220 chr8 133573183 133573861 + AC103706.1 lincRNA 3 19 14 2 17 24 4 15 20 ENSG00000261221 chr19 55605405 55617269 + ZNF865 protein_coding 100507290 GO:0000785, chromatin, GO:0046872, GO:0003700, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 354 403 313 221 318 216 234 276 234 ENSG00000261222 chr17 74599840 74607229 + AC064805.1 lincRNA 137 3 7 40 1 5 65 8 0 ENSG00000261226 chr16 88936779 88939651 - AC092384.3 sense_intronic 13 15 24 2 16 8 11 6 16 ENSG00000261227 chr16 73232055 73233970 + AC140912.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261229 chr15 79843547 79844304 - AC021483.2 lincRNA 15 3 13 4 5 5 2 2 0 ENSG00000261231 chr16 47724568 47908431 + LINC02133 lincRNA 101927132 0 0 0 0 0 0 0 0 0 ENSG00000261232 chr15 76472099 76472365 + AC090751.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261233 chr16 32475051 32478250 - ABCD1P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261234 chr16 65938189 65938453 - AC025281.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000261235 chr16 82044336 82139631 - AC092142.1 antisense 0 0 0 4 0 3 0 0 0 ENSG00000261236 chr8 144262102 144291370 - BOP1 protein_coding 23246 GO:1990904, GO:0070545, GO:0070545, GO:0030687, GO:0005730, GO:0005654, GO:0005654, ribonucleoprotein complex, PeBoW complex, PeBoW complex, preribosome, large subunit precursor, nucleolus, nucleoplasm, nucleoplasm, GO:0043021, GO:0005515, GO:0003723, ribonucleoprotein complex binding, protein binding, RNA binding, GO:1901796, GO:0051726, GO:0042254, GO:0042254, GO:0008283, GO:0006364, GO:0000463, GO:0000463, GO:0000448, GO:0000027, regulation of signal transduction by p53 class mediator, regulation of cell cycle, ribosome biogenesis, ribosome biogenesis, cell population proliferation, rRNA processing, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), ribosomal large subunit assembly, 17 9 24 40 25 67 33 30 29 ENSG00000261238 chr16 51149239 51149819 + AC009166.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261239 chr16 46469341 46569097 - ANKRD26P1 transcribed_unprocessed_pseudogene 0 1 1 0 0 2 0 2 0 ENSG00000261240 chr16 2112335 2113342 + AC009065.6 antisense 1 0 5 3 1 0 5 3 3 ENSG00000261241 chr16 50840017 50901063 + LINC02128 lincRNA 112267895 0 0 0 0 0 0 0 0 0 ENSG00000261242 chr14 63543569 63544664 + AL136038.3 antisense 0 0 0 0 0 0 5 3 0 ENSG00000261243 chr16 84495599 84497495 + AC022165.1 antisense 2 1 8 2 3 4 7 4 4 ENSG00000261244 chr15 77916522 77922019 + AC104758.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261245 chr16 31361278 31361695 - AC093520.2 unprocessed_pseudogene 58 29 46 42 26 42 80 35 42 ENSG00000261247 chr15 30135149 30145567 + GOLGA8T protein_coding 653075 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 0 0 0 0 0 0 ENSG00000261248 chr16 74282415 74287519 + AC009120.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261249 chr20 7302056 7307432 - LINC01751 lincRNA 101929288 0 0 0 0 0 0 0 0 0 ENSG00000261250 chr1 179543201 179548922 - AL160286.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261251 chr22 43812456 43817394 + Z97055.2 antisense 0 0 0 0 1 0 0 0 0 ENSG00000261253 chr16 89321133 89325110 + AC137932.2 processed_transcript 100287036 5 2 3 2 2 6 2 9 9 ENSG00000261257 chr11 126100505 126102413 - AP000821.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000261259 chr16 32951993 33028037 - AC142086.5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261260 chr16 71301583 71302869 + AC106736.1 lincRNA 102723786 0 0 0 0 0 0 0 0 0 ENSG00000261261 chr16 52622115 52631088 + AC026462.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261263 chr16 32650195 32650910 - AC138907.5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261265 chr15 57527187 57529009 - AC025271.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261266 chr16 23687049 23687689 - AC008870.3 antisense 1 1 2 0 3 3 0 0 6 ENSG00000261267 chr16 48559661 48587403 + AC026470.2 antisense 25 46 58 43 63 63 40 76 58 ENSG00000261268 chr4 139618136 139623232 - AC112236.1 lincRNA 1 5 2 0 0 0 1 0 5 ENSG00000261269 chr5 72439903 72442387 - AC093278.2 sense_overlapping 5 1 0 10 0 0 5 1 2 ENSG00000261270 chr16 56940278 56941342 + AC012181.2 sense_intronic 6 8 4 147 171 177 124 95 109 ENSG00000261272 chr6 31010474 31035402 + MUC22 protein_coding 100507679 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000261273 chr16 88234785 88302511 + AC138512.1 lincRNA 1 0 0 0 1 0 0 0 0 ENSG00000261274 chr16 35207903 35208236 - TP53TG3GP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261275 chr7 56493124 56497285 + AC092447.8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261276 chr11 69004394 69005100 + AP003071.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261278 chr16 60024578 60025141 - AC009094.1 processed_pseudogene 0 0 0 0 0 3 0 0 5 ENSG00000261279 chr15 32406597 32434992 - ULK4P1 transcribed_unprocessed_pseudogene 89838 0 0 0 0 0 0 0 0 0 ENSG00000261281 chr15 72682266 72682904 - AC009712.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261282 chr16 51107571 51108021 + SOD1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261284 chr16 31863633 31864876 + RBM22P13 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000261285 chr16 82491738 82575490 - AC009117.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261286 chr16 84459259 84467361 - ATP2C2-AS1 antisense 105371374 13 3 14 29 14 22 34 5 18 ENSG00000261288 chr16 2554975 2556105 + AC093525.5 sense_intronic 0 0 0 4 0 0 1 1 1 ENSG00000261289 chr16 31952160 31952473 + AC034105.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261290 chr1 47002995 47003148 - CYP4A44P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261291 chr16 53168522 53169450 + AC007906.1 sense_intronic 0 3 0 0 0 0 0 0 0 ENSG00000261292 chr3 97759523 97761532 + AC110491.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261293 chr16 12093627 12095307 - AC007601.2 antisense 0 0 1 0 0 0 0 0 2 ENSG00000261294 chr16 1206560 1207124 - AC120498.6 antisense 0 0 0 1 0 1 0 0 0 ENSG00000261296 chr15 62274163 62278365 + AC126323.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261298 chr2 234222838 234224514 + AC122134.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261299 chr16 35425364 35426483 + C2orf69P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261302 chr16 56708772 56729968 - AC106779.1 antisense 105371286 0 0 0 3 0 0 0 0 0 ENSG00000261303 chr15 78660644 78736684 + AC022748.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261304 chr15 34651135 34655764 - LINC02252 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261305 chr7 150337483 150343346 + AC005586.2 sense_overlapping 0 0 3 0 0 0 0 0 0 ENSG00000261307 chr18 47501172 47558383 + AC102797.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261308 chr12 51817840 51848766 - FIGNL2 protein_coding 401720 GO:0005634, nucleus, GO:0016887, GO:0008568, GO:0005524, ATPase activity, microtubule-severing ATPase activity, ATP binding, GO:0051013, GO:0031122, microtubule severing, cytoplasmic microtubule organization, 1 1 1 7 4 10 2 0 1 ENSG00000261310 chr16 60486819 60523250 - AC009081.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261312 chr16 19706351 19715383 + AC002550.1 antisense 3 0 4 6 0 0 0 2 6 ENSG00000261313 chr16 75838630 75860867 - AC105430.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261314 chr1 211583015 211583725 - AC105275.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261315 chr15 36617089 36619265 + LARP4P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261316 chr19 30907199 30909155 + LINC01834 lincRNA 107985280 0 0 0 0 0 0 0 0 0 ENSG00000261318 chr15 66278498 66293357 - AC055855.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261319 chr16 8298492 8299772 + LINC02152 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261320 chr16 67430667 67431464 - AC009061.1 lincRNA 0 0 2 2 3 1 3 0 0 ENSG00000261324 chr12 14762504 14767931 - AC010168.2 sense_overlapping 48 98 57 87 230 204 88 173 133 ENSG00000261325 chr16 47849314 47887130 - LINC02192 lincRNA 100507534 0 0 0 0 0 0 0 0 0 ENSG00000261326 chr1 23281308 23286752 - LINC01355 lincRNA 6 4 8 4 1 9 3 2 0 ENSG00000261327 chr16 88177298 88178941 - AC134312.5 lincRNA 1 0 1 0 0 7 0 0 0 ENSG00000261329 chr16 27678940 27718806 - AC016597.1 antisense 35 22 35 29 38 28 27 23 20 ENSG00000261330 chr16 77892422 77892915 + PPIAP50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261332 chr16 30498766 30499554 - AC116348.2 antisense 308 373 416 224 289 341 256 245 279 ENSG00000261333 chr15 56071421 56071639 + CD24P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261334 chr9 129480605 129482538 - AL353803.4 lincRNA 2 0 0 3 0 7 3 1 13 ENSG00000261335 chr17 76671942 76673658 + AC005837.1 antisense 105274304 3 2 0 1 0 0 0 0 0 ENSG00000261336 chr16 47565090 47566884 - EIF4BP5 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000261338 chr2 218255319 218257366 + AC021016.2 sense_overlapping 74 89 70 38 50 46 38 49 26 ENSG00000261340 chr11 29980113 29982392 - LINC01616 lincRNA 106456574 0 0 0 0 0 0 0 0 0 ENSG00000261341 chr19 50776141 50793142 - AC010325.1 protein_coding 0 0 0 0 0 1 5 0 0 ENSG00000261342 chr19 2727743 2729327 - AC006538.1 sense_intronic 0 4 4 3 1 12 1 1 0 ENSG00000261346 chr16 30477180 30489353 - AC116348.3 antisense 317 376 420 171 218 234 227 147 227 ENSG00000261347 chr11 69467598 69469705 + AP000439.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261348 chr16 71410440 71426464 - LINC02136 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261349 chr1 25266102 25267136 - AL031432.2 unprocessed_pseudogene 34 34 53 25 38 38 47 33 36 ENSG00000261350 chr16 35491174 35492395 - AC018558.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261351 chr15 66488658 66492109 - AC116913.1 antisense 47 40 55 54 64 96 36 54 48 ENSG00000261356 chr16 46571537 46572136 + AC092368.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261357 chr16 19065991 19066694 + AC099518.2 lincRNA 0 0 0 2 9 7 5 1 8 ENSG00000261359 chr16 31201885 31203452 + PYCARD-AS1 antisense 100652740 487 445 561 169 349 269 216 352 231 ENSG00000261360 chr5 14661808 14664604 - AC010491.1 antisense 1 5 3 0 4 7 5 1 0 ENSG00000261362 chr16 16541217 16541847 - AC136619.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261363 chr16 87066705 87069752 + AC106745.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261364 chr3 109176438 109177365 - AC063923.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261365 chr15 28473322 28473448 - AC138749.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261366 chr6 95575183 95577450 - MANEA-DT antisense 101927288 0 0 1 3 0 6 1 1 2 ENSG00000261367 chr16 30107675 30110541 + AC012645.2 antisense 8 12 19 7 35 17 17 20 8 ENSG00000261368 chr10 50964270 50965220 + AL731537.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261369 chr16 47299447 47317814 + AC007533.1 antisense 0 1 1 1 0 0 1 0 1 ENSG00000261371 chr17 64319415 64413776 - PECAM1 protein_coding The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]. 5175 GO:0070062, GO:0045121, GO:0044291, GO:0032991, GO:0031092, GO:0030667, GO:0030485, GO:0009897, GO:0005911, GO:0005887, GO:0005886, GO:0005886, GO:0005615, extracellular exosome, membrane raft, cell-cell contact zone, protein-containing complex, platelet alpha granule membrane, secretory granule membrane, smooth muscle contractile fiber, external side of plasma membrane, cell-cell junction, integral component of plasma membrane, plasma membrane, plasma membrane, extracellular space, GO:0042803, GO:0005515, GO:0004888, protein homodimerization activity, protein binding, transmembrane signaling receptor activity, GO:0150107, GO:0098742, GO:0098742, GO:0098609, GO:0090673, GO:0072672, GO:0072011, GO:0070830, GO:0061028, GO:0050904, GO:0050900, GO:0050731, GO:0043542, GO:0043312, GO:0042531, GO:0042060, GO:0035696, GO:0035633, GO:0030335, GO:0030198, GO:0008037, GO:0007266, GO:0007166, GO:0007165, GO:0007159, GO:0007156, GO:0006909, GO:0002576, GO:0001934, GO:0001886, GO:0001525, positive regulation of protein localization to cell-cell junction, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion via plasma-membrane adhesion molecules, cell-cell adhesion, endothelial cell-matrix adhesion, neutrophil extravasation, glomerular endothelium development, bicellular tight junction assembly, establishment of endothelial barrier, diapedesis, leukocyte migration, positive regulation of peptidyl-tyrosine phosphorylation, endothelial cell migration, neutrophil degranulation, positive regulation of tyrosine phosphorylation of STAT protein, wound healing, monocyte extravasation, maintenance of blood-brain barrier, positive regulation of cell migration, extracellular matrix organization, cell recognition, Rho protein signal transduction, cell surface receptor signaling pathway, signal transduction, leukocyte cell-cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, phagocytosis, platelet degranulation, positive regulation of protein phosphorylation, endothelial cell morphogenesis, angiogenesis, 13743 13855 16596 3757 7353 5597 5129 6322 5214 ENSG00000261373 chr16 89711856 89718165 + VPS9D1-AS1 antisense 100128881 198 174 246 189 179 264 216 141 159 ENSG00000261375 chr15 32489267 32491586 - AC135983.4 unprocessed_pseudogene 1 2 0 0 0 0 0 0 0 ENSG00000261376 chr16 80179129 80180682 + AC022166.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261377 chr15 28789664 28859007 + PDCD6IPP2 transcribed_unprocessed_pseudogene 0 0 1 5 1 2 0 1 1 ENSG00000261379 chr2 226804036 226805061 + AC010735.1 sense_intronic 0 0 0 1 0 0 0 0 0 ENSG00000261382 chr5 153901459 153903223 + AC091962.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261384 chr15 74303005 74304343 + AC023300.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000261385 chr16 31131433 31131877 + AC009088.3 antisense 0 2 1 6 3 1 3 5 6 ENSG00000261386 chr16 67549214 67563958 - AC027682.4 lincRNA 0 0 0 0 0 7 0 0 5 ENSG00000261390 chr16 79715232 79770563 - MAFTRR lincRNA 102467146 0 0 0 0 0 0 0 0 0 ENSG00000261391 chr16 32715931 32716056 + AC138907.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261392 chr16 9068554 9072412 + AC087190.2 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000261393 chr16 50368580 50371480 + AC007493.2 antisense 6 13 13 6 18 5 7 10 6 ENSG00000261394 chr16 12366982 12372582 - AC007598.2 antisense 101927227 0 0 0 0 0 0 0 1 0 ENSG00000261395 chr16 68686399 68686670 + HSPE1P5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261396 chr16 67538557 67540106 - AC027682.5 antisense 71 126 177 49 97 68 69 77 66 ENSG00000261397 chr16 9441294 9444985 - LINC01177 lincRNA 104355218 0 0 0 0 0 0 0 0 0 ENSG00000261398 chr16 35195779 35197544 + AC023824.4 lincRNA 112268173 0 0 0 0 0 0 0 0 0 ENSG00000261399 chr16 1713527 1714208 - AL031710.1 antisense 0 2 0 0 0 0 0 1 0 ENSG00000261400 chr19 31588040 31595720 - AC011525.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261401 chr15 28332237 28336609 + AC091304.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261402 chr9 19926094 19929937 + AL591222.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261403 chr15 77954075 77963654 - AC104758.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261404 chr16 73943078 74296762 - AC138627.1 lincRNA 101928035 1 2 0 3 1 0 3 4 1 ENSG00000261405 chr16 33562649 33570935 - AC136944.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261407 chr15 89087078 89088267 - AC013565.3 antisense 0 2 2 2 6 16 1 3 3 ENSG00000261408 chr17 75979231 76005999 + TEN1-CDK3 protein_coding This locus represents naturally occurring read-through transcription between the neighboring TEN1 telomerase capping complex subunit homolog (S. cerevisiae) and cyclin-dependent kinase 3 (CDK3) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Oct 2011]. 100529145 6 1 3 7 12 6 5 10 0 ENSG00000261409 chrX 108719949 108724944 - AL035425.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261410 chr16 83383007 83398170 - AC009142.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261411 chr20 11685144 11687323 - AL161938.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261416 chr16 30183505 30184957 - AC012645.3 antisense 2338 1953 2669 707 1077 1071 918 1215 878 ENSG00000261418 chr15 23430839 23435212 + AC100756.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261419 chr16 28659696 28740781 - AC145285.4 unprocessed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000261420 chr6 166383189 166384824 + AL022069.1 antisense 0 0 4 6 6 5 1 1 0 ENSG00000261421 chr16 49159508 49162023 + AC044798.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261423 chr15 72407778 72475168 - TMEM202-AS1 lincRNA 105370888 423 297 821 188 227 225 134 175 187 ENSG00000261424 chr16 75709056 75709815 - ATP5PBP7 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000261426 chr15 27362310 27366398 + AC144833.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000261427 chr16 19114002 19173578 + AC099518.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000261428 chr2 222566899 222569719 - AC097461.1 antisense 0 0 0 0 0 0 2 3 0 ENSG00000261429 chr16 56686851 56688052 + DPPA2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261430 chr16 1467673 1472684 - AL031600.2 sense_intronic 0 2 0 186 307 331 185 181 189 ENSG00000261431 chr20 38961925 38962111 - AL023803.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261432 chr9 119935053 119937832 + LINC01613 lincRNA 106146149 0 0 0 0 0 0 0 0 0 ENSG00000261433 chr17 10658542 10659082 - AC002347.1 lincRNA 0 0 0 0 0 0 2 1 0 ENSG00000261434 chr5 195778 196341 + AC021087.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261435 chrX 39837536 39848358 - AL592164.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261436 chr16 60359842 60442245 + AC018554.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261437 chr8 94637285 94639467 - AC108860.2 antisense 100288748 0 0 0 0 0 0 0 0 0 ENSG00000261438 chr10 89015836 89017059 + AL157394.1 sense_overlapping 18 23 61 4 9 15 6 2 12 ENSG00000261439 chr16 56192614 56194518 - DKFZP434H168 antisense 26077 2 0 3 1 0 0 0 0 0 ENSG00000261440 chr16 34135736 34136792 - DUX4L45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261441 chr15 89335053 89336161 + AC124068.2 antisense 0 0 0 3 1 3 0 0 0 ENSG00000261442 chr16 4634329 4640623 - AC023830.1 antisense 10 14 27 10 6 23 13 6 7 ENSG00000261444 chr16 30214409 30214699 + AC106782.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261445 chr16 35493754 35496457 - AC018558.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261446 chr13 90060247 90119719 - LINC00559 lincRNA 100874187 0 0 0 1 0 0 0 0 0 ENSG00000261447 chr9 69672749 69673713 + AL162412.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261448 chr16 17134504 17138736 + AC109446.3 antisense 102723692 29 18 47 8 9 6 10 9 7 ENSG00000261449 chr8 42151772 42152763 - AC103724.3 antisense 1 6 0 19 17 15 17 33 33 ENSG00000261451 chr8 10433672 10438312 + AC104964.2 sense_overlapping 2 1 1 5 2 10 5 4 0 ENSG00000261453 chr1 208607100 208612192 - LINC01735 lincRNA 0 0 0 0 0 5 0 0 0 ENSG00000261455 chr7 152463786 152465549 + LINC01003 lincRNA 131 147 86 54 85 112 78 90 56 ENSG00000261456 chr10 46892 74163 - TUBB8 protein_coding The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016]. 347688 GO:0072687, GO:0070062, GO:0005874, GO:0005737, meiotic spindle, extracellular exosome, microtubule, cytoplasm, GO:0005525, GO:0005200, GO:0003924, GO:0003674, GTP binding, structural constituent of cytoskeleton, GTPase activity, molecular_function, GO:0007056, GO:0001556, GO:0000278, GO:0000226, spindle assembly involved in female meiosis, oocyte maturation, mitotic cell cycle, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000261457 chr16 31802947 31807973 + AC002519.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261458 chr16 74842587 74843883 + AC009132.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261459 chr16 30525923 30534852 - AC002310.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000261460 chr15 72278867 72351794 + AC009690.2 antisense 54 81 88 330 399 331 293 235 177 ENSG00000261461 chr16 35169692 35170241 - UBE2MP1 processed_pseudogene 18 14 13 4 6 2 4 12 8 ENSG00000261462 chr7 87109539 87111282 + AC004023.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261465 chr16 19062499 19067691 - AC099518.4 antisense 9 8 6 9 10 18 5 11 16 ENSG00000261466 chr16 33548297 33554408 - AC136944.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261467 chr7 73985992 73988767 + AC099398.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261468 chr3 30697661 30699576 + AC096921.2 sense_overlapping 47 74 33 120 275 225 117 189 197 ENSG00000261469 chr16 68236845 68237667 - AC020978.4 sense_intronic 1 1 0 0 2 0 0 0 5 ENSG00000261470 chr16 52078622 52080489 + AC009039.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261471 chr16 84594393 84596826 + AC092145.1 antisense 262 180 350 38 45 88 57 32 39 ENSG00000261472 chr16 79505603 79516293 + AC084064.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261474 chr16 31449535 31453493 - AC026471.4 lincRNA 10 10 9 20 14 21 6 15 15 ENSG00000261475 chr16 31549143 31553567 - LINC02190 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261476 chr16 75458252 75460017 - AC009163.3 sense_intronic 0 4 7 1 13 3 4 10 10 ENSG00000261478 chr15 89508961 89510416 + AC013391.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261480 chr15 28719377 28738431 - GOLGA8M lincRNA 653720 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 0 0 0 0 0 0 ENSG00000261481 chr16 8869251 8870032 + AC022167.4 antisense 2 0 0 0 0 0 2 0 0 ENSG00000261482 chr16 27066928 27067858 - AC092725.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261485 chr13 28136843 28138193 - PAN3-AS1 antisense 31 41 39 38 60 66 34 36 37 ENSG00000261486 chr16 35344091 35344559 - RARRES2P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261487 chr16 30948386 30956511 + AC135048.1 processed_transcript 1 0 0 0 0 0 0 0 0 ENSG00000261488 chr3 112133423 112135359 + TBILA antisense 112806053 0 0 0 0 0 0 0 1 0 ENSG00000261489 chr15 57477484 57478329 - AC025271.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261490 chr4 10068089 10073019 - AC005674.2 sense_overlapping 175 157 201 245 337 329 191 203 285 ENSG00000261491 chr15 32384937 32387484 + DNM1P31 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261497 chr15 28362796 28365731 - AC091304.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261498 chr13 24331450 24337121 + LINC00566 lincRNA 100861547 0 0 0 0 0 0 0 0 0 ENSG00000261499 chr17 36274191 36320547 + AC233699.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261501 chr4 121870583 121872848 + AC079341.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261502 chr16 63056786 63129654 - AC040174.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000261504 chr1 182615254 182616629 + LINC01686 lincRNA 284648 0 1 1 0 0 5 0 0 0 ENSG00000261505 chr16 1317891 1322845 - AL031714.1 antisense 254 227 342 285 293 398 220 255 324 ENSG00000261507 chr16 33206431 33330342 - AC141257.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261509 chr16 33360274 33363478 + TP53TG3B protein_coding 729355 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000261511 chr7 99820018 99820086 + CYP3A137P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261512 chr16 46622861 46624451 - AC092368.3 lincRNA 114 91 130 39 51 73 43 48 74 ENSG00000261513 chr16 71723180 71724230 + AC009097.4 antisense 0 0 1 0 1 2 0 0 0 ENSG00000261514 chr17 43938363 43938959 + LINC01976 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261515 chr16 35836886 35837732 + VN1R70P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261517 chr13 53815419 53876119 + LINC00558 lincRNA 100861552 0 0 0 0 0 0 0 0 0 ENSG00000261519 chr16 66549280 66551189 + AC010542.4 lincRNA 17 13 41 3 9 10 1 10 23 ENSG00000261520 chr18 4264602 4295405 + DLGAP1-AS5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261522 chr2 94575976 94587183 - AL845331.3 transcribed_unprocessed_pseudogene 100133920 0 0 0 0 0 0 0 0 0 ENSG00000261523 chr16 14695567 14707055 - AC009167.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261524 chr15 28402868 28405033 + ABCB10P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261526 chr19 1874871 1876169 - AC012615.1 lincRNA 56 60 40 54 68 111 79 63 91 ENSG00000261527 chr16 69443240 69444290 - AC026464.5 processed_pseudogene 0 2 0 0 1 0 0 0 0 ENSG00000261528 chr16 23500905 23501630 + AC002400.1 processed_pseudogene 0 0 1 1 2 0 0 0 0 ENSG00000261529 chr15 25345633 25347235 - AC100774.1 sense_intronic 0 1 0 0 0 5 2 0 0 ENSG00000261532 chr16 2211997 2212863 + AC009065.7 lincRNA 25 40 44 17 32 34 30 46 35 ENSG00000261534 chr9 121815674 121819452 - AL596244.1 sense_overlapping 0 2 3 0 6 1 3 2 0 ENSG00000261535 chr7 102153355 102154463 - AC005086.1 antisense 0 0 1 2 0 1 4 2 1 ENSG00000261536 chr16 33140850 33143797 + ABHD17AP9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261537 chr16 78994345 79004730 + AC027279.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000261538 chr16 48164952 48167238 - AC096996.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261540 chr16 78014683 78059454 - AC079414.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261541 chr16 32454612 32458758 - AC138915.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261542 chr8 63215981 63218034 + AC011978.2 lincRNA 11 24 21 18 15 22 1 8 9 ENSG00000261543 chr15 74152800 74179226 - AC010931.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261544 chr15 65766460 65767398 - AC011939.2 sense_intronic 0 1 0 0 4 1 3 4 0 ENSG00000261546 chr16 89113175 89115279 - AC135782.3 antisense 12 13 20 10 20 13 17 20 17 ENSG00000261548 chr6 29800415 29802425 + HLA-P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261549 chr15 88989519 88990245 - AC107954.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261552 chr16 28989140 28990778 - AC109460.4 antisense 7 8 10 40 13 50 44 6 34 ENSG00000261553 chr13 75549773 75807120 + AL137782.1 processed_transcript 0 0 0 4 0 0 0 0 0 ENSG00000261554 chr15 20893383 20893980 - AC037471.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261555 chr16 17825252 17826906 + AC025277.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261556 chr16 70219574 70246610 - SMG1P7 transcribed_unprocessed_pseudogene 100506060 7 3 7 18 6 10 10 3 9 ENSG00000261557 chr16 27133483 27135179 - EEF1A1P38 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000261558 chr19 23015075 23023697 - LINC01859 lincRNA 101929164 0 0 0 0 0 0 0 0 0 ENSG00000261559 chr15 34494420 34495900 + FSCN1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261560 chr16 11881075 11882569 - AC007216.3 sense_intronic 2 2 0 10 0 8 7 3 10 ENSG00000261561 chr15 28346490 28346647 + AC091304.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261564 chr16 1273751 1276522 - AC120498.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261566 chr16 35022851 35024250 - AC135776.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261568 chr6 22220781 22222395 + AL359694.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261569 chr16 32649193 32663956 + AC138907.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261570 chr7 141529203 141551304 - AC073878.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261572 chr3 32236688 32238578 - AC097639.1 sense_intronic 0 0 2 0 3 0 0 1 1 ENSG00000261573 chr1 198657553 198667061 - AL157402.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261575 chr17 46267037 46268694 + AC005829.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261578 chr11 76800364 76804555 + AP003119.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261580 chr16 33769421 33769679 + ENPP7P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261581 chr15 28575019 28579400 - HERC2P11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261582 chr20 35267885 35280043 - AL121753.1 protein_coding 18 4 10 17 10 15 32 11 4 ENSG00000261583 chr16 23711990 23712793 + AC012317.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261584 chr6 26686241 26687964 + AL513548.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000261586 chr12 51817899 51820150 + AC068987.4 lincRNA 2 1 0 0 0 10 1 0 1 ENSG00000261587 chr8 144352219 144354914 - TMEM249 protein_coding 340393 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000261588 chr16 30587662 30587920 - AC093249.4 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000261590 chr16 60357214 60357474 + AC018554.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261592 chr16 87396704 87400295 - AC010531.3 antisense 11 18 11 941 1988 1180 538 639 703 ENSG00000261593 chr1 47000898 47001087 - CYP4A27P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261594 chr11 75240905 75243697 + TPBGL protein_coding 100507050 GO:0016021, integral component of membrane, 0 0 1 7 4 3 0 0 0 ENSG00000261595 chr1 112715672 112717796 + AL603832.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261596 chr16 21626742 21627569 + AC005632.2 sense_intronic 97 73 132 69 87 118 94 78 104 ENSG00000261598 chr15 24299749 24300638 + AC087463.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261599 chr16 33094204 33129090 - HERC2P8 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261600 chr2 91580336 91580863 + AC233266.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261602 chr16 69709874 69710583 + AC092115.2 antisense 2 0 1 3 1 0 0 0 0 ENSG00000261603 chr3 46719583 46736429 - PRSS46P transcribed_unitary_pseudogene 100287362 GO:0005615, extracellular space, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000261604 chr5 43287601 43290839 + AC114947.2 antisense 144 121 227 609 685 911 511 519 642 ENSG00000261606 chr15 74816223 74831795 + AC091230.1 processed_transcript 0 0 2 1 0 1 3 1 0 ENSG00000261607 chr16 33948278 33948548 - AC140658.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261608 chr16 35173316 35174093 + SLC25A1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261609 chr16 81314947 81390884 + GAN protein_coding This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]. 8139 GO:0031463, GO:0005856, GO:0005829, GO:0005737, Cul3-RING ubiquitin ligase complex, cytoskeleton, cytosol, cytoplasm, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0043687, GO:0016567, GO:0016567, GO:0007010, post-translational protein modification, protein ubiquitination, protein ubiquitination, cytoskeleton organization, 58 64 94 41 42 39 42 21 32 ENSG00000261610 chr21 32259804 32261585 - AP000265.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261611 chr16 71447600 71489311 - AC010547.4 protein_coding 0 0 0 0 1 0 0 0 0 ENSG00000261612 chr16 4562814 4563128 - SUB1P3 processed_pseudogene 0 0 0 1 0 1 0 1 0 ENSG00000261613 chr16 2554060 2556060 - AC093525.6 antisense 0 1 3 7 1 4 3 3 3 ENSG00000261614 chr16 31568386 31569475 - YBX3P1 processed_pseudogene 2 1 2 1 2 0 4 0 1 ENSG00000261615 chr19 23046958 23061752 - LINC01858 lincRNA 101929144 0 0 0 0 0 2 0 0 0 ENSG00000261616 chr15 99139317 99145370 + AC036108.3 antisense 0 0 1 2 0 2 1 0 0 ENSG00000261617 chr16 9355588 9408093 + LINC02177 lincRNA 101927009 0 0 0 0 0 0 0 0 0 ENSG00000261618 chr8 78837529 78840522 + AC083837.1 lincRNA 0 0 0 0 0 0 4 0 0 ENSG00000261620 chr16 35802869 35803280 - HMGN2P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261621 chr15 24235078 24276829 + AC087463.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261622 chr15 23912409 23941716 + AC021439.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261623 chr16 49466106 49469875 + LINC02179 lincRNA 101927228 0 0 0 0 0 0 0 0 0 ENSG00000261624 chr7 141351977 141352768 + NDUFB10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261625 chr11 69000765 69002048 - AP003071.4 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261627 chr18 6641971 6642478 - AP005205.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261628 chr15 30899480 30900327 + AC087481.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261629 chr7 141429711 141431268 - AC005692.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261630 chr16 53981229 53981912 - AC007496.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261632 chr15 71972206 72040265 + AC022872.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261633 chr16 57622034 57631647 - AC018552.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261634 chr15 69278328 69298763 - AC026992.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261635 chr15 36613474 36614198 + AC103988.1 processed_pseudogene 1 0 5 0 0 3 0 5 0 ENSG00000261636 chr16 25419814 25424169 - LINC02191 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261637 chr16 51017544 51035777 + LINC02127 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261638 chr16 58847807 58880213 - AC092378.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261641 chr16 1445343 1446519 + AL031600.3 antisense 131 214 147 292 395 210 327 254 162 ENSG00000261642 chr1 191151510 191154634 + AL713866.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261644 chr16 50727417 50742815 - AC007728.2 antisense 259 465 727 149 483 498 169 328 440 ENSG00000261645 chr11 90251204 90915052 + DISC1FP1 processed_transcript 101929222 1 0 0 0 0 0 0 0 2 ENSG00000261646 chr4 173467833 173470041 - AC093849.1 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000261647 chr16 10111382 10112885 + IMPDH1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261648 chr16 31546698 31547237 - AC106730.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261649 chr15 28841833 28848675 - GOLGA6L7 protein_coding 728310 GO:0005801, cis-Golgi network, 0 0 0 0 0 0 0 0 0 ENSG00000261650 chr12 130024493 130044956 - AC055717.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261651 chr16 87215915 87216452 + AC136285.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261652 chr15 55408548 55418764 + C15orf65 protein_coding 145788 GO:0005515, protein binding, 1 4 2 0 3 4 0 1 0 ENSG00000261653 chr16 63935778 63936906 + AC092337.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261654 chr1 110936369 110942353 - AL360270.2 sense_overlapping 14 16 10 22 50 46 18 37 37 ENSG00000261655 chr8 141353403 141355365 - AC100803.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261656 chr16 66469796 66481230 - BEAN1-AS1 antisense 101927726 1 5 6 0 1 20 1 6 17 ENSG00000261659 chr16 689001 692554 + Z92544.2 processed_transcript 18 21 31 20 34 34 37 38 24 ENSG00000261662 chr1 119909255 119910613 - AL359752.1 sense_overlapping 50 57 36 59 60 65 73 42 23 ENSG00000261663 chr16 2240487 2241818 + AC009065.8 antisense 2 1 3 9 5 3 5 2 6 ENSG00000261664 chr1 51329654 51335324 + TTC39A-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261665 chr15 83739784 83740199 + TUBAP4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261666 chr13 88626853 88630397 + LINC00560 lincRNA 100861553 0 0 0 0 0 0 0 0 0 ENSG00000261667 chr8 143080457 143083001 + LY6L protein_coding 101928108 GO:0031225, GO:0005886, anchored component of membrane, plasma membrane, 0 0 0 0 0 0 0 0 0 ENSG00000261668 chr4 127840198 127844040 - AC093591.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261669 chr16 24803451 24819739 - AC008731.1 antisense 1 2 1 0 3 0 0 2 0 ENSG00000261670 chr8 103464389 103468985 + AC012213.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000261671 chr10 22257786 22258548 + AL158211.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000261673 chr16 72224565 72225144 - AC009075.1 lincRNA 0 0 0 0 1 1 0 0 0 ENSG00000261675 chr22 36560870 36562915 - AL022313.4 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261678 chr8 144330565 144336281 - SCRT1 protein_coding This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013]. 83482 GO:0016604, GO:0000785, nuclear body, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0003700, GO:0001227, GO:0000981, GO:0000978, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, DNA-binding transcription factor activity, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2001222, GO:0006355, GO:0006355, GO:0000122, regulation of neuron migration, regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000261679 chr15 43267904 43268388 - ATP5PDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261680 chr16 30624285 30624714 - AC093249.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261682 chr16 33129316 33134499 + AC145350.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261683 chr10 33759713 33772658 - LINC00838 lincRNA 100505583 0 0 0 0 0 0 0 0 0 ENSG00000261684 chr15 42497394 42532840 - AC018362.1 antisense 1835 1494 1864 792 1340 1196 1001 1330 1161 ENSG00000261687 chr15 43184079 43185141 - AC068724.1 antisense 10 7 9 12 7 4 9 4 6 ENSG00000261689 chr16 35389203 35390003 - AGGF1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261691 chr16 547185 553847 - Z97986.1 antisense 10 7 14 14 9 13 16 9 3 ENSG00000261692 chr16 89420075 89422226 - AC092120.1 sense_intronic 0 2 0 1 6 11 5 5 0 ENSG00000261693 chr8 142403652 142407028 + AC134682.1 antisense 1 0 0 1 1 7 2 1 1 ENSG00000261695 chr16 14734685 14746177 - AC136443.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261696 chr9 21394888 21396346 - AL353732.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261697 chr16 87262759 87292438 - AC010531.4 sense_intronic 101928682 0 0 0 0 0 0 0 0 0 ENSG00000261701 chr16 72063148 72077246 + HPR protein_coding This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell anemia and extensive intravascular hemolysis, suggesting a difference in binding between haptoglobin-hemoglobin and haptoglobin-related protein-hemoglobin complexes to CD163, the hemoglobin scavenger receptor. This protein may also be a clinically important predictor of recurrence of breast cancer. [provided by RefSeq, Oct 2011]. 3250 GO:0072562, GO:0072562, GO:0070062, GO:0034366, GO:0005615, GO:0005576, blood microparticle, blood microparticle, extracellular exosome, spherical high-density lipoprotein particle, extracellular space, extracellular region, GO:0030492, GO:0004252, hemoglobin binding, serine-type endopeptidase activity, GO:0031638, GO:0010942, GO:0006898, GO:0002526, zymogen activation, positive regulation of cell death, receptor-mediated endocytosis, acute inflammatory response, 0 1 1 0 0 0 0 1 0 ENSG00000261702 chr15 67974391 67974625 - AC022254.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261703 chr16 50806668 50807629 + LINC02168 lincRNA 105371252 0 0 0 1 0 0 0 0 0 ENSG00000261704 chr16 32034853 32035326 + IGHV1OR16-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261706 chr21 44994362 44995185 - LINC00165 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261707 chr16 77741468 77743000 - AC092134.1 antisense 0 1 1 3 10 0 0 2 0 ENSG00000261708 chr15 32436503 32439767 + DNM1P32 unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000261709 chr15 45214906 45215033 - RF00614 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000261710 chr8 142089827 142091619 + AC104417.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261711 chr16 35477414 35480481 - FRG2DP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261713 chr16 1064093 1078731 - SSTR5-AS1 processed_transcript 146336 0 0 0 0 0 0 0 0 0 ENSG00000261714 chr15 75415249 75416020 + AC105137.1 processed_pseudogene 1 1 2 0 0 1 0 0 5 ENSG00000261715 chr18 40066286 40099233 + LINC01477 lincRNA 101927900 0 0 0 0 0 0 0 0 0 ENSG00000261716 chr1 149844498 149850937 - HIST2H2BC transcribed_unprocessed_pseudogene 1222 1539 1365 838 1417 1313 1010 971 997 ENSG00000261717 chr16 75412684 75464706 - AC009163.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000261719 chr16 32811029 32811251 - AC137761.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261720 chr16 1065240 1066502 + AC009041.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261722 chr16 79212711 79229453 - AC092376.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261723 chr16 23605841 23624107 + AC008870.4 antisense 0 0 2 0 1 0 0 0 0 ENSG00000261725 chr16 46850999 46851254 + AC007225.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261727 chr16 32008438 32084785 - AC142381.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261728 chr13 34925834 34928076 - AL138690.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261729 chr1 185655002 185657168 + AL133383.1 lincRNA 105371653 0 0 0 0 0 0 0 0 0 ENSG00000261730 chr6 1383790 1385066 - AL034346.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261731 chr16 31709113 31711984 - AC074050.3 antisense 2 4 7 26 2 48 26 1 12 ENSG00000261732 chr16 1632259 1686715 + AL031708.1 protein_coding 1 0 1 5 4 0 7 2 1 ENSG00000261734 chr3 20388249 20390562 + AC116096.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261736 chr16 27643199 27644663 + AC002551.1 sense_intronic 1 0 1 0 2 3 3 3 0 ENSG00000261737 chr1 86703502 86704462 - AL049597.2 antisense 105378828 8 13 8 4 12 8 7 6 4 ENSG00000261738 chr18 5748819 5876328 + MIR3976HG lincRNA 645355 0 0 0 0 0 0 0 0 0 ENSG00000261739 chr15 23354748 23367231 + GOLGA8S protein_coding 653061 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 0 0 0 0 0 0 ENSG00000261740 chr16 29443230 29454651 - BOLA2-SMG1P6 protein_coding This gene represents naturally-occurring readthrough transcription between the upstream BOLA2 (bolA family member 2) and downstream SMG1 pseudogene 6 (SMG1P6) loci. Alternative splicing results in multiple transcript variants, some of which may encode proteins with an N-terminus similar to BOLA2 and a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. [provided by RefSeq, Feb 2016]. 107282092 6 1 3 6 4 5 6 5 12 ENSG00000261741 chr16 31563082 31567716 - FRG2KP transcribed_unprocessed_pseudogene 102724018 0 0 0 0 0 0 0 0 0 ENSG00000261742 chr16 65284499 65576300 - LINC00922 lincRNA 283867 0 0 0 0 0 0 0 0 0 ENSG00000261743 chr16 63368844 63369456 + AC138305.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261744 chr16 88512960 88531053 - AC116552.1 antisense 100128882 1 2 9 3 0 3 7 1 0 ENSG00000261745 chr6 53125644 53126146 - AL512347.1 sense_overlapping 1 0 0 0 1 0 1 0 0 ENSG00000261747 chr15 30153933 30154110 - AC120045.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261748 chr16 16952502 16953468 - AC098965.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261749 chr16 52085280 52099067 + LINC02180 lincRNA 102467079 0 0 0 0 0 0 0 0 0 ENSG00000261751 chr16 49920730 49924154 - AC007603.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261752 chr16 35258630 35259629 + AGGF1P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261754 chr19 34811589 34814345 - AC008555.1 lincRNA 4 5 1 5 7 6 12 4 2 ENSG00000261757 chr5 142703782 142705421 + AC005592.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261758 chr3 136752630 136755780 + AC117382.2 antisense 2 1 1 0 5 2 0 5 5 ENSG00000261759 chr16 19119976 19121629 - AC099518.5 antisense 3 2 1 4 0 7 2 0 3 ENSG00000261760 chr2 110231106 110272050 + AC140479.4 transcribed_unprocessed_pseudogene 100507334 0 0 0 0 0 0 0 0 0 ENSG00000261761 chr4 37001816 37020708 + AL136537.2 processed_transcript 100508631 0 0 0 0 0 0 0 0 0 ENSG00000261762 chr15 78589123 78591276 - AC027228.2 antisense 0 0 2 0 1 0 0 0 0 ENSG00000261763 chr3 139678620 139682564 - AC110716.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261764 chr16 72728616 72729894 + KRT18P18 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261765 chr16 71881553 71882273 - AC009127.1 sense_intronic 0 0 0 0 0 1 0 1 0 ENSG00000261766 chr16 28862166 28863340 - AC133550.2 antisense 0 0 1 4 2 2 4 0 0 ENSG00000261770 chr19 27757184 27760849 - AC006504.1 lincRNA 4 1 2 8 3 2 8 1 7 ENSG00000261771 chr15 55355248 55498360 - DNAAF4-CCPG1 processed_transcript This locus represents naturally occurring read-through transcription between the neighboring dyslexia susceptibility 1 candidate 1 (DYX1C1) and cell cycle progression 1 (CCPG1) genes on chromosome 15. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011]. 100533483 0 0 0 0 0 0 0 0 0 ENSG00000261773 chrX 154517840 154518631 - AC244090.2 sense_overlapping 0 2 3 7 3 8 1 4 5 ENSG00000261774 chr16 72278268 72278568 + AC009075.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261775 chr15 74489602 74516959 + AC012435.2 lincRNA 3 0 4 0 2 3 1 2 0 ENSG00000261776 chr16 78055824 78056927 - AC079414.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261777 chr16 70315640 70346747 - AC012184.3 processed_transcript 100506083 13 12 16 27 18 27 28 13 9 ENSG00000261778 chr7 141173043 141173216 - AC006362.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261779 chr15 75211301 75212167 - AC113208.3 antisense 505 398 520 51 157 75 62 164 117 ENSG00000261780 chr18 73324941 73349878 + LINC02582 processed_transcript 100505817 0 0 0 0 0 0 0 0 0 ENSG00000261781 chr1 18065657 18074412 + LINC01654 lincRNA 101927876 0 0 0 0 0 0 0 0 0 ENSG00000261782 chr16 35879036 35879498 - AC116553.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261783 chr16 75379818 75381260 - AC009054.2 sense_intronic 2 1 4 0 1 0 2 0 1 ENSG00000261786 chr3 44117299 44122365 + AC006058.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000261787 chr8 66946501 66962590 - TCF24 protein_coding 100129654 GO:0000785, chromatin, GO:0046983, GO:0005515, GO:0000981, GO:0000977, protein dimerization activity, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0032502, GO:0006357, developmental process, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000261789 chr16 4560001 4561662 - AC023830.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261790 chr16 1984877 1990357 - AC005606.2 lincRNA 4 5 9 17 6 1 5 1 13 ENSG00000261792 chr15 30098826 30102093 - DNM1P28 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261793 chr9 137168854 137171984 - AL929554.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000261794 chr15 30604126 30614561 + GOLGA8H protein_coding 728498 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 1 2 0 0 0 0 0 0 ENSG00000261795 chr7 161765 164972 - AC093627.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261796 chr3 129087575 129161036 - ISY1-RAB43 protein_coding This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]. 100534599 0 0 0 0 0 0 0 0 0 ENSG00000261797 chr7 141512698 141513183 - AC073878.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261798 chr1 39788976 39790171 + AL033527.3 antisense 101929536 0 0 0 0 0 0 0 0 0 ENSG00000261799 chr12 273954 277123 - AC007406.5 sense_overlapping 33 38 24 25 34 63 30 29 13 ENSG00000261800 chr16 35143722 35144881 + AC023824.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261801 chr15 73908071 73928248 - LOXL1-AS1 antisense 100287616 33 33 55 15 32 86 23 30 54 ENSG00000261802 chr16 48447904 48448398 - AC026470.3 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261803 chr16 54366007 54370699 - LINC02140 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261804 chr16 53373493 53384745 + AC007342.4 lincRNA 137 112 190 41 68 70 73 90 85 ENSG00000261807 chr16 59855353 60053973 + LINC02141 lincRNA 101927580 0 0 5 0 0 6 0 0 4 ENSG00000261809 chr7 4511959 4512033 - CYP3A54P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261810 chr16 10033684 10037297 + AC133565.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261811 chr16 5215394 5220594 - LINC02164 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261812 chr16 90093154 90096354 + TUBB8P7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 6 1 0 ENSG00000261813 chr15 74976240 74976573 - AC015720.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261815 chr16 49170552 49171786 + AC044798.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261816 chr16 88191486 88193667 - AC134312.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261817 chr1 180117140 180123890 - AL390718.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261818 chr16 65580668 65646947 + AC092138.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261819 chr16 14988259 14990160 - AC138932.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261820 chr15 75791470 75792683 - DNM1P49 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261821 chr15 74365435 74371211 + AC090826.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261822 chr15 42567031 42569994 - AC018362.2 antisense 5 0 7 7 4 27 8 2 4 ENSG00000261823 chr15 56408483 56410186 - AC084782.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261824 chr19 27684580 27793940 - LINC00662 lincRNA 148189 8 11 6 8 13 0 8 6 11 ENSG00000261826 chr3 140865075 140867783 - AC121333.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261829 chr2 231052040 231052637 + AC009407.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000261831 chr1 179926641 179941796 - AL353708.2 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000261832 chr16 28456371 28492098 - AC138894.1 protein_coding 0 1 0 0 0 0 0 0 3 ENSG00000261833 chr16 76553417 76819624 + AC104151.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000261834 chr16 32903442 32903894 + IGHV3OR16-15 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261835 chr16 50046496 50047798 + AC007610.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261837 chr16 78534374 78535648 + AC046158.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000261838 chr16 81069854 81076598 + AC092718.6 antisense 0 1 0 0 3 0 2 0 0 ENSG00000261839 chr6 28136849 28139678 + AL358933.1 lincRNA 5 1 0 4 14 3 1 1 0 ENSG00000261840 chr16 30697707 30699058 - AC093249.6 antisense 730183 34 47 49 27 22 56 12 30 12 ENSG00000261842 chr7 149422675 149424890 + AC073314.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000261845 chr17 82602989 82604178 - AC124283.1 antisense 8 13 3 11 12 28 6 27 17 ENSG00000261848 chr17 3134969 3177031 - AC090282.1 lincRNA 100288728 0 0 0 0 0 0 0 0 0 ENSG00000261856 chr16 14018880 14021077 - LINC02186 lincRNA 101927348 0 0 0 0 0 0 0 0 0 ENSG00000261857 chr19 40771648 40777490 + MIA protein_coding 8190 GO:0005615, extracellular space, GO:0008083, growth factor activity, GO:0030198, GO:0007165, extracellular matrix organization, signal transduction, 0 0 0 2 0 0 2 1 0 ENSG00000261863 chr17 4610449 4617650 + LINC01996 lincRNA 400568 0 3 1 0 1 0 0 0 0 ENSG00000261864 chr16 68077340 68122271 + AC130462.1 processed_transcript 0 1 0 3 7 1 1 7 3 ENSG00000261866 chr19 8676844 8677584 + AC243312.1 processed_pseudogene 0 1 0 0 2 1 0 0 0 ENSG00000261868 chr17 4301372 4302698 + MFSD1P1 processed_pseudogene 7 7 1 1 11 15 3 6 1 ENSG00000261872 chr17 47169826 47171049 + AC002558.2 antisense 10 10 28 11 5 12 16 10 8 ENSG00000261873 chr17 55448433 55511444 - SMIM36 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000261879 chr17 5192084 5248069 + AC087500.1 antisense 100130950 5 9 6 8 9 9 6 4 3 ENSG00000261882 chr17 56368063 56368215 + AC006600.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261884 chr16 67929614 67936017 - AC040162.1 protein_coding 163 142 153 118 137 146 120 136 114 ENSG00000261886 chr17 46916770 46923034 - AC005670.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000261888 chr17 83104255 83106910 + AC144831.1 lincRNA 13 47 39 78 102 53 45 48 33 ENSG00000261889 chr16 3156736 3157483 - AC108134.2 lincRNA 0 0 0 0 1 3 0 1 4 ENSG00000261898 chr17 4731756 4732371 - AC091153.4 antisense 81 77 86 23 54 45 17 23 24 ENSG00000261904 chr16 10720015 10721464 - MTND5P33 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261914 chr4 190195727 190196190 + RPL23AP84 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000261915 chr17 7312661 7319174 - AC026954.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000261916 chr17 3601761 3602272 - AC027796.1 sense_intronic 1 0 0 0 2 0 0 0 0 ENSG00000261924 chr17 80966239 80971213 - AC127496.1 antisense 400627 1 0 3 4 1 0 0 0 0 ENSG00000261934 chr5 141402932 141512979 + PCDHGA9 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56107 GO:0005887, integral component of plasma membrane, GO:0005509, GO:0003723, calcium ion binding, RNA binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 2 0 0 0 0 0 0 ENSG00000261938 chr16 3581181 3583266 + AC006111.1 lincRNA 6 4 4 6 4 6 3 12 4 ENSG00000261939 chr16 19819504 19819628 - LARP7P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261949 chr19 49423749 49428818 + GFY protein_coding 100507003 GO:0030173, integral component of Golgi membrane, GO:1905515, GO:0097499, GO:0050896, GO:0007608, non-motile cilium assembly, protein localization to non-motile cilium, response to stimulus, sensory perception of smell, 0 0 1 0 0 0 0 0 0 ENSG00000261959 chr17 50163523 50165316 - AC015909.3 antisense 0 0 0 0 0 0 0 1 0 ENSG00000261963 chr17 2724411 2749504 - CCDC92B unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261965 chr17 54477796 54478168 + ISCA1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261970 chr6 79552794 79553160 + AL391840.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261971 chr16 3037403 3059370 - MMP25-AS1 antisense 7432 7843 10531 5490 7261 8053 6334 5562 7313 ENSG00000261976 chr17 50840057 50841626 - AC091062.1 antisense 0 1 0 0 0 0 0 0 0 ENSG00000261978 chr17 80023894 80026107 + AC116025.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000261987 chr17 19166896 19169668 - KYNUP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000261996 chr17 6653464 6655009 - AC004706.1 lincRNA 6 9 5 12 7 9 11 5 23 ENSG00000261997 chr16 55538200 55542027 + AC007336.1 lincRNA 61 49 93 43 64 68 44 36 56 ENSG00000262000 chr17 80515215 80515389 + AC120024.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262001 chr18 3603000 3608336 + DLGAP1-AS2 antisense 65 75 139 106 73 138 96 73 97 ENSG00000262003 chr17 909632 911212 + AC087392.1 antisense 101927727 3 0 0 1 0 0 0 0 3 ENSG00000262006 chr17 50909637 50910232 - AC005920.4 lincRNA 0 4 1 0 0 0 0 0 0 ENSG00000262008 chr16 71443055 71443856 - AC010547.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262011 chr16 13331368 13332583 - AC003009.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262020 chr16 11066496 11071102 - AC007014.1 antisense 0 2 0 1 0 5 0 1 0 ENSG00000262031 chr17 46909742 46911512 - LINC01974 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262038 chr16 47529190 47529916 + AC007599.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000262039 chr17 49370740 49476988 + AC091180.5 antisense 3 3 1 0 7 7 2 3 0 ENSG00000262048 chr6 79406240 79406774 - AL078601.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262049 chr17 81701324 81703300 - AC139530.1 antisense 275 286 271 396 524 406 334 363 312 ENSG00000262050 chr17 2712309 2712833 + AC005696.1 antisense 105371592 0 0 0 0 0 0 0 0 0 ENSG00000262052 chr17 55842677 55872939 - AC090618.1 lincRNA 0 1 0 3 0 0 0 2 0 ENSG00000262061 chr17 331205 333488 + AC129507.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000262067 chr17 7058934 7059204 + AC120057.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262074 chr17 19063346 19064136 - SNORD3B-2 snoRNA 0 0 0 1 1 13 1 0 11 ENSG00000262075 chr9 136322303 136327323 - DKFZP434A062 lincRNA 26102 0 0 0 0 0 0 0 0 0 ENSG00000262079 chr17 55325757 55327791 - AC007638.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262081 chr18 80140 88570 - IL9RP4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262085 chr17 3153889 3154882 - OR1P1 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262089 chr17 6994642 6995189 - AC040977.1 lincRNA 42 63 82 43 104 121 98 63 97 ENSG00000262090 chr16 33495943 33496093 - AC136944.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262094 chr17 83220527 83227721 - AC139099.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000262095 chr6 91726810 91727070 + MTATP6P25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262096 chr5 141239923 141243034 + PCDHB19P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262097 chr16 14009280 14016016 - LINC02185 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262098 chr17 81023545 81025503 - AC127496.2 lincRNA 0 2 0 0 0 0 2 1 0 ENSG00000262099 chr17 5469092 5470360 + AC004148.1 lincRNA 105371506 0 0 0 0 0 0 0 0 0 ENSG00000262106 chr17 3265611 3266541 + OR1D3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262107 chr16 10719833 10720015 + MTND6P33 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262112 chr17 56888880 56891841 + AC015912.1 antisense 534 501 849 563 813 814 606 618 709 ENSG00000262115 chr17 81197393 81200288 + AC027601.2 antisense 2 7 14 4 3 11 15 14 2 ENSG00000262116 chr16 13197606 13204907 - AC009134.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262117 chr16 11819829 11828845 - BCAR4 lincRNA This gene produces a spliced long non-coding RNA (lncRNA) that has been implicated in breast cancer metastasis. It was originally identified in a screen for genes responsible for the development of resistance to anti-estrogens in breast cancer cells. It is thought that release of CCL21 enables this lncRNA to bind to the SNIP1 and PNUTS transcription factors, thereby activating a non-canonical GLI-dependent hedgehog signaling pathway that promotes cancer cell migration and invasion. A similar gene in cow expresses a protein in mature oocytes and preimplantation embryos. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2015]. 400500 0 0 1 0 0 0 0 0 0 ENSG00000262118 chr16 3367719 3369246 - MTCO1P28 processed_pseudogene 1 0 0 1 1 0 0 0 0 ENSG00000262119 chr14 26592747 26594517 - AL079343.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000262120 chr16 71420483 71421518 + AC010547.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262133 chr17 877902 880093 + AC087392.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262135 chr17 55550931 55551649 - GARSP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262136 chr16 69727013 69742563 + AC092115.3 antisense 4 7 15 27 20 20 22 9 7 ENSG00000262140 chr16 71833787 71835932 + AC010653.1 unprocessed_pseudogene 1 4 0 2 2 0 0 1 4 ENSG00000262141 chr16 67855955 67856111 - AC040162.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000262147 chr17 82587313 82588411 - AC124283.2 antisense 3 5 3 10 7 6 1 3 0 ENSG00000262151 chr16 10864914 10888752 - AC133065.1 antisense 1 3 1 1 3 4 0 5 2 ENSG00000262152 chr16 2988961 2994509 + LINC00514 processed_transcript 15 22 8 1 8 4 5 6 2 ENSG00000262154 chr16 2822659 2822993 - EIF1P4 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000262155 chr16 25066937 25068943 + LINC02175 lincRNA 283887 3 6 9 0 5 7 11 8 11 ENSG00000262158 chr16 10723836 10724617 - MTCO3P24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262160 chr16 68225969 68229145 - AC020978.5 antisense 426 738 544 473 919 689 488 639 540 ENSG00000262165 chr17 4801159 4807013 - AC233723.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262171 chr16 15885029 15886158 + AC130651.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262172 chr17 79991944 79992841 - AC116025.2 sense_intronic 0 1 3 0 1 2 3 0 3 ENSG00000262179 chr6 44216939 44218236 + MYMX protein_coding 101929726 GO:0005887, GO:0005886, GO:0005886, GO:0005789, GO:0000139, integral component of plasma membrane, plasma membrane, plasma membrane, endoplasmic reticulum membrane, Golgi membrane, GO:0060538, GO:0060538, GO:0045026, GO:0045026, GO:0043403, GO:0014905, GO:0007520, GO:0007520, skeletal muscle organ development, skeletal muscle organ development, plasma membrane fusion, plasma membrane fusion, skeletal muscle tissue regeneration, myoblast fusion involved in skeletal muscle regeneration, myoblast fusion, myoblast fusion, 0 0 0 1 0 0 0 0 0 ENSG00000262180 chr1 186400572 186401455 + OCLM protein_coding 21 31 24 22 51 32 33 42 43 ENSG00000262181 chr18 45034 46047 + AP001005.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262185 chr16 3931217 3950586 - AC005736.1 lincRNA 102724927 0 0 1 0 1 0 0 0 0 ENSG00000262187 chr16 32618733 32618852 + AC137800.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262188 chr17 79919357 79925462 + LINC01978 lincRNA 101928738 0 0 0 0 1 0 0 0 0 ENSG00000262198 chr13 22918591 22924602 + AL157931.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262202 chr17 19112000 19112636 - AC007952.4 lincRNA 0 0 0 11 2 1 1 6 4 ENSG00000262209 chr5 141370264 141512979 + PCDHGB3 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56102 GO:0005887, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 2 0 0 0 0 0 ENSG00000262211 chr5 55936143 55941727 + AC008914.1 antisense 82 58 129 122 61 122 118 27 72 ENSG00000262213 chr17 1241939 1254000 - AC144836.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262223 chr17 81375144 81385464 - AC110285.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262227 chr17 4987706 4988446 + AC004771.3 antisense 2 2 3 0 1 0 3 1 7 ENSG00000262228 chr17 763565 765319 - AC087392.3 lincRNA 0 5 0 3 1 0 7 1 0 ENSG00000262231 chr17 6189361 6190541 - AC104770.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000262235 chr16 13458326 13458698 + TMF1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262246 chr16 4354542 4425705 - CORO7 protein_coding This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene. [provided by RefSeq, Dec 2016]. 79585 GO:0031410, GO:0016021, GO:0016020, GO:0005829, GO:0005802, GO:0005794, GO:0000139, cytoplasmic vesicle, integral component of membrane, membrane, cytosol, trans-Golgi network, Golgi apparatus, Golgi membrane, GO:0051015, GO:0005515, GO:0003779, actin filament binding, protein binding, actin binding, GO:0030041, GO:0015031, GO:0007015, GO:0006895, actin filament polymerization, protein transport, actin filament organization, Golgi to endosome transport, 0 0 0 0 0 0 0 0 0 ENSG00000262248 chr17 3619256 3619913 - AC027796.2 processed_pseudogene 1 0 0 1 1 0 0 0 0 ENSG00000262259 chr16 10723065 10723355 - MTND4LP24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262262 chr17 18638019 18638370 - AC026271.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262265 chr17 47160398 47167723 - AC002558.3 sense_intronic 4 3 6 2 7 7 4 3 0 ENSG00000262267 chr16 13730137 13779760 - U95743.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262271 chr17 53434131 53435829 + AC090079.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262292 chr17 19160789 19162274 + AC007952.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262294 chr17 352638 357581 + AC129507.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262296 chr17 9647020 9647660 - AC118755.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262298 chr17 56939932 56941275 + AC004584.1 antisense 0 0 0 0 0 0 1 0 4 ENSG00000262302 chr17 7246829 7262089 - AC003688.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262304 chr17 3585149 3636249 - AC027796.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262312 chr16 3542739 3545785 + AC004494.1 antisense 11 7 19 33 6 40 34 9 28 ENSG00000262313 chr17 80940418 80942033 - AC127496.3 antisense 0 1 3 1 1 2 3 0 5 ENSG00000262316 chr16 3323192 3323925 - AC025283.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262319 chr17 19141017 19143689 - AC007952.6 antisense 1 0 2 0 0 6 0 0 1 ENSG00000262322 chr16 10721698 10723068 - MTND4P34 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262332 chr16 16223027 16224261 + AC136624.1 antisense 1 0 0 0 1 0 0 0 0 ENSG00000262333 chr17 2306761 2307715 + HNRNPA1P16 processed_pseudogene 1 0 1 0 0 3 4 0 0 ENSG00000262339 chr17 82978525 82981738 + AC130371.1 antisense 0 0 1 0 0 0 0 0 1 ENSG00000262343 chr17 79848058 79850110 - AC100791.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262352 chr18 11103 15928 + LINC02564 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262358 chr17 3729361 3730493 + AC116914.1 antisense 0 0 1 0 0 0 0 3 0 ENSG00000262362 chr16 3003431 3005101 - AC004233.1 sense_overlapping 13 22 21 20 28 29 8 17 0 ENSG00000262366 chr16 31174573 31174822 + NDUFA3P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262370 chr16 3076911 3087100 - AC108134.3 lincRNA 568 607 677 695 1055 929 711 824 840 ENSG00000262372 chr17 46035313 46035770 + CR936218.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262380 chr16 15683290 15684570 + AC026401.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000262381 chr16 10724620 10725296 - MTATP6P24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262384 chr17 53681630 53682111 - AC034268.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262400 chr6 25152547 25152883 + AL590084.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262402 chr17 2127430 2127904 - MCUR1P1 processed_pseudogene 0 0 0 0 0 0 2 0 4 ENSG00000262406 chr11 102862736 102875034 - MMP12 protein_coding This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]. 4321 GO:0031012, GO:0005737, GO:0005634, GO:0005615, GO:0005576, extracellular matrix, cytoplasm, nucleus, extracellular space, extracellular region, GO:0043565, GO:0008270, GO:0005518, GO:0005509, GO:0004222, GO:0004222, GO:0004222, GO:0004222, GO:0004175, GO:0001046, sequence-specific DNA binding, zinc ion binding, collagen binding, calcium ion binding, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, metalloendopeptidase activity, endopeptidase activity, core promoter sequence-specific DNA binding, GO:1904905, GO:1904645, GO:0098586, GO:0060340, GO:0060339, GO:0060309, GO:0060054, GO:0050691, GO:0045944, GO:0035313, GO:0032727, GO:0030574, GO:0030574, GO:0030198, GO:0022617, GO:0006606, GO:0006508, GO:0006508, GO:0000122, negative regulation of endothelial cell-matrix adhesion via fibronectin, response to amyloid-beta, cellular response to virus, positive regulation of type I interferon-mediated signaling pathway, negative regulation of type I interferon-mediated signaling pathway, elastin catabolic process, positive regulation of epithelial cell proliferation involved in wound healing, regulation of defense response to virus by host, positive regulation of transcription by RNA polymerase II, wound healing, spreading of epidermal cells, positive regulation of interferon-alpha production, collagen catabolic process, collagen catabolic process, extracellular matrix organization, extracellular matrix disassembly, protein import into nucleus, proteolysis, proteolysis, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000262408 chr17 56884639 56884819 - AC015912.2 processed_pseudogene 2 3 3 0 0 4 1 1 3 ENSG00000262410 chr17 82745068 82745709 + AC024361.1 sense_intronic 0 0 0 0 0 2 0 0 2 ENSG00000262412 chr10 27243130 27250804 + AL160291.1 lincRNA 0 0 0 1 0 3 1 0 2 ENSG00000262413 chr17 81867721 81868552 + AC145207.2 antisense 1341 1507 1659 4910 5000 4776 4567 3540 4131 ENSG00000262420 chr16 11741910 11744506 + AC007613.1 antisense 130 99 133 91 92 151 85 78 121 ENSG00000262429 chr17 4967995 4968822 + AC004771.4 antisense 113 136 162 98 150 115 110 129 125 ENSG00000262434 chr17 789744 790525 - AC087392.4 antisense 0 0 1 6 0 0 2 0 0 ENSG00000262445 chr17 1995614 2003671 + AC099684.2 antisense 0 0 2 0 0 0 0 0 0 ENSG00000262454 chr16 14301389 14331067 + MIR193BHG lincRNA 0 1 0 0 1 0 0 0 0 ENSG00000262456 chr17 2384847 2386664 + AC006435.1 antisense 436 481 470 382 566 464 423 347 314 ENSG00000262461 chr7 73076165 73086038 - SPDYE9P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262468 chr16 4243943 4253817 - LINC01569 lincRNA 0 1 0 3 0 19 0 2 9 ENSG00000262470 chr16 14200357 14200979 + TVP23CP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262471 chr16 4130555 4130820 + AC009171.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262477 chr18 32412182 32413236 + AC021224.1 lincRNA 37 28 31 56 23 83 69 19 64 ENSG00000262480 chr17 2613284 2613944 - SAMD11P1 processed_pseudogene 0 1 0 7 16 18 14 11 1 ENSG00000262481 chr17 7389734 7404097 - TMEM256-PLSCR3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262482 chr16 2939714 2954276 - AC004034.1 antisense 0 0 0 8 0 4 0 0 0 ENSG00000262484 chr19 38908980 38912158 - CCER2 protein_coding 643669 GO:0005576, extracellular region, 0 0 0 0 0 1 5 1 1 ENSG00000262488 chr16 10840384 10841544 - AC133065.2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000262492 chr17 7954868 7955622 + AC104581.1 processed_pseudogene 0 0 0 3 3 7 1 0 2 ENSG00000262495 chr17 5060356 5062123 + AC012146.2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000262497 chr19 35232291 35233003 - FAM187B2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262500 chr17 46243606 46245044 + MAPK8IP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262503 chr17 6927472 6928191 - AC027763.1 processed_pseudogene 5 0 0 0 0 0 3 0 0 ENSG00000262514 chr16 68199795 68200981 + AC020978.6 sense_intronic 1 5 5 1 17 8 4 13 13 ENSG00000262516 chr16 3840528 3841010 + AC007151.1 processed_pseudogene 3 5 1 2 0 6 0 1 3 ENSG00000262518 chr17 53438556 53439721 + AC090079.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262519 chr17 4572206 4572515 + TXNP4 processed_pseudogene 0 0 0 0 2 3 2 0 0 ENSG00000262521 chr16 3181233 3184018 - AJ003147.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262526 chr17 7240427 7244635 - AC120057.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262528 chr16 654611 656194 - AL022341.2 antisense 0 0 0 1 1 0 0 0 0 ENSG00000262529 chr16 14191820 14200277 - AC130650.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262533 chr17 2042900 2043425 - AC090617.3 antisense 66 56 68 153 164 173 124 114 144 ENSG00000262539 chr17 46259551 46260606 - AC005829.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262543 chr6 138377905 138383075 + SMIM28 protein_coding 110806279 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000262554 chr16 3308609 3308816 + AC004232.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262558 chr17 354737 356882 + AC129507.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262560 chr15 43772617 43799133 - AC018512.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262561 chr16 34120470 34120677 + AC136932.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262566 chr6 62611153 62611327 - AL355375.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262576 chr5 141355025 141512979 + PCDHGA4 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56111 GO:0005887, integral component of plasma membrane, GO:0005515, GO:0005509, protein binding, calcium ion binding, GO:0007283, GO:0007156, GO:0007155, spermatogenesis, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 2 0 0 0 0 0 ENSG00000262580 chr17 80200673 80205949 - AC087741.1 antisense 44 39 101 65 80 124 47 41 61 ENSG00000262583 chr16 75499788 75516280 - TMEM231P1 transcribed_unprocessed_pseudogene 3 2 1 4 0 0 4 0 2 ENSG00000262585 chr17 79915252 79926725 - LINC01979 lincRNA 101928766 0 0 0 0 1 0 0 0 0 ENSG00000262587 chr16 25031744 25058109 + AC133552.2 transcribed_unprocessed_pseudogene 554206 1 1 2 0 7 0 4 6 2 ENSG00000262609 chr17 6322413 6323228 - BTF3P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262619 chr13 22894656 22916369 - LINC00621 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262621 chr16 3382113 3397745 + AC025283.2 protein_coding 158 95 115 60 87 71 48 46 58 ENSG00000262623 chr17 56951664 56952404 + AC004584.2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000262624 chr17 7436557 7437523 - AC113189.1 antisense 0 2 3 0 2 1 1 3 3 ENSG00000262628 chr17 3062669 3063607 - OR1D5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 8386 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000262633 chr17 46923133 47049932 + AC005670.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262636 chr16 11380859 11381118 - AC099489.2 processed_pseudogene 15 9 26 20 31 27 25 23 23 ENSG00000262648 chr7 74741457 74742121 - PHBP15 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262651 chr6 63612761 63612903 - AL513043.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262652 chr17 82578023 82578616 + AC124283.3 sense_intronic 0 8 6 0 7 0 0 2 0 ENSG00000262655 chr11 13962689 14267884 + SPON1 protein_coding 10418 GO:0062023, GO:0062023, GO:0031012, GO:0005788, GO:0005615, collagen-containing extracellular matrix, collagen-containing extracellular matrix, extracellular matrix, endoplasmic reticulum lumen, extracellular space, GO:0050693, GO:0046872, GO:0005515, GO:0005201, GO:0005201, LBD domain binding, metal ion binding, protein binding, extracellular matrix structural constituent, extracellular matrix structural constituent, GO:1902993, GO:1902430, GO:0032092, GO:0010954, GO:0007155, positive regulation of amyloid precursor protein catabolic process, negative regulation of amyloid-beta formation, positive regulation of protein binding, positive regulation of protein processing, cell adhesion, 2 5 4 26 5 21 27 3 20 ENSG00000262660 chr17 81703371 81720539 + AC139530.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262662 chr17 80960766 80961713 - AC127496.4 antisense 0 3 3 4 0 0 0 3 0 ENSG00000262663 chr17 82918282 82918785 + AC087222.1 lincRNA 1 0 1 0 2 0 0 0 5 ENSG00000262664 chr17 2041936 2043430 + OVCA2 protein_coding 124641 GO:0005737, GO:0005737, GO:0005634, cytoplasm, cytoplasm, nucleus, GO:0016787, hydrolase activity, GO:0032526, GO:0032526, response to retinoic acid, response to retinoic acid, 0 0 0 0 0 0 0 0 0 ENSG00000262668 chr16 3188212 3224779 + AJ003147.2 antisense Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 4992 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, GO:0007165, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, signal transduction, 102 117 129 32 45 41 35 22 15 ENSG00000262678 chr17 4986466 4987324 + AC004771.5 antisense 18 14 20 11 18 33 10 13 14 ENSG00000262681 chr17 19719059 19722428 + AC005722.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262686 chr16 4324667 4328340 - GLIS2-AS1 lincRNA 101926896 0 0 0 0 0 0 0 0 0 ENSG00000262691 chr16 67261108 67263784 + AC040160.1 processed_transcript 0 0 0 1 0 6 4 1 5 ENSG00000262692 chr17 3721628 3722488 + AC116914.2 antisense 4 0 2 0 2 0 3 1 8 ENSG00000262693 chr17 5075678 5078113 - AC012146.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262700 chr16 25093387 25095255 + AC133552.3 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000262703 chr16 11348143 11349321 - AC009121.1 antisense 2 2 0 8 6 2 21 0 7 ENSG00000262708 chr17 616002 616595 + AC027455.1 processed_pseudogene 1 2 0 5 4 9 0 3 0 ENSG00000262712 chr16 4335870 4337818 - AC012676.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000262714 chr16 53386944 53389085 + AC007342.5 lincRNA 241 214 293 84 185 262 124 170 192 ENSG00000262721 chr16 30875766 30895216 - AC135048.2 sense_overlapping 0 0 0 0 0 0 0 1 0 ENSG00000262728 chr15 32586105 32615158 - AC123768.3 antisense 0 0 0 0 0 0 0 0 1 ENSG00000262730 chr17 7925931 7930622 - AC104581.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000262732 chr16 13930677 13935635 - AC010401.1 antisense 0 2 5 12 0 7 8 2 7 ENSG00000262759 chr17 50450179 50450725 - MRPS21P9 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000262766 chr16 31118078 31118747 + AC135050.5 sense_intronic 53 82 80 69 123 82 97 66 66 ENSG00000262768 chr17 79800598 79802529 + AC100791.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262769 chr17 19560111 19597922 - AC025627.1 antisense 0 1 0 0 4 0 0 0 0 ENSG00000262772 chr17 79823452 79827704 + LINC01977 lincRNA 0 1 2 0 3 0 0 0 2 ENSG00000262777 chr17 1424473 1426484 + AC032044.1 antisense 0 1 3 2 0 1 0 2 0 ENSG00000262786 chr17 14295512 14297600 - AC005224.2 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000262791 chr17 1725748 1738585 - AC130343.1 antisense 3 3 2 12 7 4 6 2 2 ENSG00000262801 chr16 13246316 13562918 + U91319.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262803 chr6 70693839 70694619 + AL354943.1 processed_pseudogene 0 2 0 0 0 1 0 1 0 ENSG00000262810 chr17 2089681 2101560 + AC090617.4 antisense 1 0 2 0 0 0 0 0 0 ENSG00000262814 chr17 81703357 81707526 + MRPL12 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]. 6182 GO:0005762, GO:0005762, GO:0005743, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, GO:0005515, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0045893, GO:0006390, GO:0006390, mitochondrial translational termination, mitochondrial translational elongation, positive regulation of transcription, DNA-templated, mitochondrial transcription, mitochondrial transcription, 9 6 4 13 4 10 10 7 4 ENSG00000262815 chr17 9464742 9467422 + AC087501.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262818 chr17 6417685 6418264 + AC055872.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262823 chr17 4481966 4486353 - AC127521.1 antisense 3 32 40 5 0 17 1 3 0 ENSG00000262831 chr17 81843165 81843958 + AC145207.3 antisense 285 338 402 388 437 568 479 424 510 ENSG00000262833 chr17 80801640 80805632 - AC016245.1 antisense 101928855 0 0 0 0 0 1 0 0 0 ENSG00000262837 chr17 49834239 49836454 + AC027801.4 lincRNA 1 3 6 5 6 2 6 0 2 ENSG00000262848 chr16 16290135 16292242 - AC136624.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262855 chr17 5126740 5127010 - AC012146.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262869 chr17 2019952 2023664 - AC099684.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000262870 chr17 77198950 77199543 - CYCSP40 processed_pseudogene 6 18 9 22 27 20 16 13 13 ENSG00000262873 chr17 81017969 81020011 - AC127496.5 lincRNA 1 2 0 4 1 0 3 0 0 ENSG00000262874 chr19 51388289 51390574 - C19orf84 protein_coding 147646 0 2 3 0 1 2 2 0 1 ENSG00000262877 chr17 81388126 81390256 - AC110285.2 lincRNA 1 1 0 0 0 0 0 3 0 ENSG00000262879 chr17 46984045 47100323 - AC068152.1 processed_transcript 7 0 6 10 2 21 10 12 14 ENSG00000262880 chr17 7420103 7444081 + AC113189.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000262881 chr17 45907670 45910779 - CR936218.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262884 chr17 2962248 2965895 - AC015921.1 antisense 101927911 140 157 199 76 148 117 96 93 87 ENSG00000262885 chr16 35023339 35023765 + AC135776.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262890 chr16 70802083 70802840 - AC027281.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262898 chr17 83144131 83177607 + AC139099.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262899 chr16 3307573 3308393 - AC004232.2 antisense 5 2 1 5 0 0 0 0 0 ENSG00000262902 chr17 53105734 53106358 + MTCO1P40 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262903 chr17 3655621 3658092 - AC027796.4 antisense 3 8 5 15 10 12 11 11 13 ENSG00000262904 chr16 74667506 74668706 + TMPOP2 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000262905 chr17 552566 553417 + AC015853.1 antisense 17 16 18 10 19 14 8 13 15 ENSG00000262919 chrX 153587919 153600045 - CCNQ protein_coding Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. 92002 GO:0005634, nucleus, GO:0016538, GO:0005515, cyclin-dependent protein serine/threonine kinase regulator activity, protein binding, GO:0006357, GO:0000079, regulation of transcription by RNA polymerase II, regulation of cyclin-dependent protein serine/threonine kinase activity, 33 19 39 40 37 43 27 11 33 ENSG00000262920 chr17 321392 322453 + AC129507.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262921 chr17 4565752 4571760 + AC118754.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262943 chr17 6853861 6954107 + ALOX12P2 transcribed_unprocessed_pseudogene 245 7 6 4 4 2 4 3 3 4 ENSG00000262950 chr16 49442910 49454078 - AC007861.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262952 chr17 83211996 83221190 + AC139099.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000262953 chr17 2586330 2587866 - EIF4A1P9 processed_pseudogene 0 0 0 0 2 0 0 0 5 ENSG00000262959 chr16 2922662 2923202 - RPL23AP86 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262961 chr17 5730289 5731085 + AC006236.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262962 chr16 68002432 68004952 - KARSP3 unprocessed_pseudogene 0 9 3 0 5 12 7 6 10 ENSG00000262966 chr17 9171068 9179118 - AC005695.1 antisense 101928266 0 0 0 0 0 0 0 0 0 ENSG00000262967 chr17 50693448 50695449 + AC005921.2 antisense 7 7 19 19 16 26 10 13 13 ENSG00000262974 chr16 18533418 18533817 + AC136618.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262979 chr17 80315651 80316633 + AC124319.1 sense_intronic 0 0 0 7 3 15 5 1 3 ENSG00000262980 chr11 6057316 6058275 - OR52L2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262983 chr16 21194847 21205977 + AF001550.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262990 chr17 6749685 6749978 - AC004706.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000262995 chr16 20440266 20447000 - AC137056.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000262999 chr16 11465260 11473174 + AC099489.3 antisense 101927131 52 77 80 56 64 101 49 75 93 ENSG00000263001 chr7 74657667 74760692 + GTF2I protein_coding This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]. 2969 GO:0016020, GO:0005737, GO:0005654, GO:0005634, GO:0005634, membrane, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003700, GO:0003677, GO:0001228, GO:0001102, GO:0000981, protein binding, DNA-binding transcription factor activity, DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II activating transcription factor binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0100026, GO:0051481, GO:0045944, GO:0016525, positive regulation of DNA repair by transcription from RNA polymerase II promoter, negative regulation of cytosolic calcium ion concentration, positive regulation of transcription by RNA polymerase II, negative regulation of angiogenesis, 70 80 98 91 62 87 94 86 91 ENSG00000263002 chr19 44141557 44160309 + ZNF234 protein_coding 10780 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 3 15 18 11 19 22 24 15 11 ENSG00000263004 chr17 57078298 57085024 - AC007114.1 lincRNA 0 0 1 0 0 0 0 1 0 ENSG00000263006 chr18 109065 122219 + ROCK1P1 transcribed_unprocessed_pseudogene 727758 5 4 17 10 8 10 17 3 16 ENSG00000263011 chr16 3106764 3109576 + AC108134.4 sense_overlapping 0 0 0 2 3 7 1 0 2 ENSG00000263015 chr17 503171 511347 + AC015853.2 antisense 4 20 2 5 18 7 10 9 9 ENSG00000263017 chr17 959034 959366 + AC036164.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263020 chr6 31666102 31673546 + AL662899.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000263029 chr16 16260866 16261235 - AC136624.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263033 chr16 11196177 11224969 + AC007220.1 lincRNA 2 6 10 2 5 4 13 7 3 ENSG00000263041 chr10 117825903 117830518 - AL513324.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263045 chr17 18986148 18986334 - AC090286.3 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000263050 chr17 2043475 2044968 - AC090617.5 lincRNA 6 3 9 107 155 140 115 97 98 ENSG00000263051 chr17 9547298 9548541 + AC087501.3 antisense 0 0 0 0 0 0 1 0 0 ENSG00000263063 chr17 82713908 82716255 - AC024361.2 lincRNA 101929552 0 0 0 0 0 0 0 0 0 ENSG00000263065 chr16 15741151 15741791 + AF001548.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263069 chr17 80351828 80415168 - AC124319.2 antisense 100294362 333 345 479 218 251 308 308 199 351 ENSG00000263070 chr15 30380353 30386987 - AC019322.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263072 chr16 3110460 3134882 - ZNF213-AS1 antisense 21 36 19 20 26 36 19 15 17 ENSG00000263080 chr16 11341809 11345211 - AC009121.2 antisense 105371083 0 0 0 2 0 0 0 0 0 ENSG00000263081 chr7 75232928 75233924 + AC211486.2 antisense 0 0 1 0 0 0 1 0 0 ENSG00000263089 chr17 57092145 57096425 - AC007114.2 antisense 0 0 3 0 0 4 0 0 5 ENSG00000263096 chr17 55271504 55273653 - AC007638.2 antisense 0 0 1 2 0 0 0 0 0 ENSG00000263098 chr17 82795486 82796095 - AC068014.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263105 chr16 4180117 4183515 - AC009171.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263107 chr17 19582116 19582275 - AC025627.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263110 chr16 49454229 49457269 + AC007861.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263120 chr17 56982749 56985104 + AC004584.3 sense_intronic 1 4 1 2 0 0 1 0 0 ENSG00000263125 chr17 54754165 54754649 - ARL2BPP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263126 chr16 67882461 67886367 + AC040162.3 lincRNA 3 1 0 5 2 0 5 2 2 ENSG00000263142 chr17 46978481 47054569 + LRRC37A17P transcribed_unprocessed_pseudogene 19 2 8 13 1 1 16 6 13 ENSG00000263146 chr18 78976555 78979074 - LINC01896 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263154 chr17 81362272 81374214 + AC110285.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263155 chr15 57591941 57685364 + MYZAP protein_coding This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]. 100820829 GO:0031674, GO:0031674, GO:0031234, GO:0030864, GO:0030054, GO:0030018, GO:0005622, I band, I band, extrinsic component of cytoplasmic side of plasma membrane, cortical actin cytoskeleton, cell junction, Z disc, intracellular anatomical structure, GO:0005515, protein binding, GO:0035556, GO:0035556, intracellular signal transduction, intracellular signal transduction, 0 0 4 0 0 0 0 0 0 ENSG00000263159 chr16 4032012 4032936 + AC005736.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263164 chr17 5240508 5241543 - AC087500.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000263165 chr17 4163910 4164713 + AC087292.1 antisense 65 77 75 102 106 73 105 84 59 ENSG00000263167 chr17 81135771 81136256 + AC115099.1 antisense 4 10 9 2 9 0 1 7 7 ENSG00000263171 chr17 7352687 7354944 - AC026954.3 antisense 2 1 0 3 3 5 4 2 5 ENSG00000263176 chr17 50212933 50215357 - AC015909.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263177 chr16 3369957 3370906 - MTND1P8 processed_pseudogene 0 0 1 4 0 0 0 0 0 ENSG00000263179 chr16 11242653 11243552 + HNRNPCP4 processed_pseudogene 0 1 0 0 0 0 0 0 3 ENSG00000263189 chr17 53952936 53955324 + AC023934.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263196 chr16 10723424 10723766 - MTND3P13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263199 chr17 54702936 54703430 + AC005951.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263201 chr16 68013436 68015911 - DPEP2NB protein_coding 100131303 GO:0005515, protein binding, 0 1 1 13 0 0 0 2 0 ENSG00000263206 chr17 19208584 19211359 + KYNUP3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263207 chr16 55332355 55332967 + AC109462.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263212 chr16 3458071 3515564 + AC004224.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000263218 chr17 80999509 81000130 - AC127496.6 antisense 15 35 19 15 38 18 15 31 16 ENSG00000263219 chr17 4222091 4223828 + RYKP1 processed_pseudogene 5 2 1 0 2 1 0 2 1 ENSG00000263220 chr17 5364315 5371626 - AC015727.1 antisense 3 2 1 0 6 7 0 2 0 ENSG00000263232 chr16 72005037 72006543 - ATP5F1AP3 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000263234 chr16 13953155 13954825 + AC010401.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263235 chr16 3650636 3651703 - AC006111.2 sense_overlapping 2 0 10 6 10 7 3 15 5 ENSG00000263237 chr16 20385957 20391164 + AC106796.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263241 chr16 10718633 10719762 - MTCYBP33 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263244 chr16 9104848 9113181 + AC087190.3 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000263252 chr17 53353427 53354134 - AC005341.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263253 chr16 20208925 20209525 + AC092132.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263257 chr16 14407668 14418872 - AC040173.1 lincRNA 0 0 0 1 0 0 7 0 3 ENSG00000263264 chr19 7348943 7383385 + AC119396.1 protein_coding 142 131 178 85 59 82 118 61 92 ENSG00000263266 chr17 28467822 28468406 + RPS7P1 processed_pseudogene 66 38 79 156 74 141 98 67 99 ENSG00000263271 chr17 81461013 81461937 - AC110285.4 antisense 0 1 0 0 0 0 0 0 0 ENSG00000263272 chr17 5425139 5432876 - AC004148.2 antisense 13 15 31 31 17 47 26 17 5 ENSG00000263276 chr16 68224713 68227734 + AC020978.7 sense_overlapping 8 19 5 36 77 24 31 16 26 ENSG00000263278 chr17 79598032 79603921 - AC233701.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000263279 chr16 10691273 10692973 + AC007595.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263280 chr16 2866348 2867618 - AC003965.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263293 chr17 47303460 47323613 - THCAT158 antisense 102724508 0 1 0 0 3 0 0 0 0 ENSG00000263300 chr17 523140 540576 + AC015853.3 antisense 6 0 1 0 3 0 0 0 0 ENSG00000263301 chr17 7439159 7443327 - AC113189.3 antisense 2 3 4 0 5 3 1 0 0 ENSG00000263305 chr18 14195 16898 - AP005530.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263307 chr16 11851649 11895611 + AC007216.4 antisense 3 3 0 2 0 2 5 1 1 ENSG00000263311 chr16 72004239 72004803 - AC009127.2 unprocessed_pseudogene 0 0 0 0 2 0 0 0 4 ENSG00000263312 chr17 3977103 3981899 + LINC01975 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263316 chr17 6954098 6978960 - AC027763.2 antisense 0 0 3 0 0 0 1 0 0 ENSG00000263317 chr17 52390515 52535701 + LINC01982 lincRNA 105371830 0 0 0 0 0 0 0 0 0 ENSG00000263321 chr17 82729164 82734143 - AC024361.3 lincRNA 1 0 0 5 0 0 0 0 0 ENSG00000263325 chr16 2857898 2859726 + AC003965.2 antisense 0 0 0 1 0 0 0 0 0 ENSG00000263326 chr16 25071490 25072727 - AC133552.4 unprocessed_pseudogene 2 3 6 2 10 4 1 2 9 ENSG00000263327 chr4 16226685 16320140 + TAPT1-AS1 antisense 6 12 21 29 17 19 18 9 13 ENSG00000263331 chr16 21120758 21130108 + AC008551.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263335 chr16 15726674 15732993 + AF001548.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263338 chr17 3577955 3578853 - AC027796.5 sense_intronic 1 0 0 0 0 0 0 0 1 ENSG00000263342 chr17 7282947 7284071 - AC003688.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263343 chr16 31165648 31165927 + AC009088.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263345 chr17 2375061 2379306 - AC006435.2 antisense 90 80 111 88 85 115 104 59 77 ENSG00000263353 chr1 120889746 120890405 + PPIAL4A protein_coding 653505 GO:0070062, GO:0043231, GO:0005737, extracellular exosome, intracellular membrane-bounded organelle, cytoplasm, GO:0016018, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 0 0 0 0 0 0 0 0 0 ENSG00000263354 chr18 67081584 67081686 + MIR5011 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847002 0 0 0 0 0 0 0 0 0 ENSG00000263355 chr18 68455951 68456877 + AKR1B10P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263360 chr16 82844455 82844757 + RN7SL134P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263361 chr5 154829458 154829540 + MIR378H miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616306 0 0 0 0 0 4 0 0 0 ENSG00000263363 chr2 226658710 226658793 - MIR5702 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847053 0 0 0 0 0 0 0 0 0 ENSG00000263366 chr22 22114844 22118005 - ABHD17AP5 processed_pseudogene 0 0 0 0 2 0 3 3 1 ENSG00000263368 chr17 27526386 27527223 - AC069366.1 processed_pseudogene 6 7 8 11 11 6 9 9 11 ENSG00000263369 chr17 32106330 32114125 - AC090616.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263370 chr17 29639627 29640825 + AC104564.1 antisense 21 38 15 71 60 53 58 30 54 ENSG00000263372 chr8 41271048 41271143 - MIR548AO miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847068 0 0 0 0 0 0 0 0 0 ENSG00000263375 chr17 21592794 21594180 + AC233702.2 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000263381 chr1 44545493 44545552 + MIR5584 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847089 0 0 0 0 0 0 0 0 0 ENSG00000263382 chr18 26822813 26823979 - AC018371.1 lincRNA 105372035 0 0 0 0 0 0 0 0 0 ENSG00000263388 chr17 10680734 10683988 + AC002347.2 antisense 5 11 2 4 6 5 3 4 2 ENSG00000263389 chr11 36010098 36010204 + MIR3973 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616311 0 0 0 0 0 0 0 0 0 ENSG00000263390 chr1 170151378 170151462 + MIR3119-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423010 0 0 0 0 0 0 0 0 0 ENSG00000263393 chr18 32122400 32124478 - AC011825.2 antisense 13 18 12 86 111 197 100 67 142 ENSG00000263394 chr17 19091069 19091825 - AC007952.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263396 chr18 1357651 1357942 + AP005119.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263399 chr13 98208524 98208600 + MIR3170 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422881 0 0 0 0 0 0 0 0 0 ENSG00000263400 chr17 10729777 10815164 + TMEM220-AS1 antisense 101101775 0 0 0 0 0 0 0 0 0 ENSG00000263403 chr9 136519568 136519626 - MIR4673 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616242 1 1 2 0 0 0 0 0 0 ENSG00000263405 chr18 27452514 27453657 - PA2G4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263407 chr8 9048445 9048518 + MIR4660 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616350 0 0 0 0 0 0 0 0 0 ENSG00000263409 chr19 4932687 4932740 + MIR4747 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616337 0 0 0 0 0 0 0 0 0 ENSG00000263410 chrX 77885377 77885634 + RN7SL460P misc_RNA 0 0 3 2 0 0 3 0 0 ENSG00000263412 chr17 48045141 48048073 - AC004477.1 processed_transcript 1 3 0 1 4 0 0 0 0 ENSG00000263413 chr14 105858165 105858242 - MIR4538 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616276 0 0 0 0 0 0 0 0 0 ENSG00000263414 chr19 813584 813653 + MIR3187 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422854 0 0 0 0 0 0 0 0 0 ENSG00000263417 chr18 70630534 70650744 - GTSCR1 lincRNA 0 0 2 2 0 1 0 0 0 ENSG00000263424 chr18 67506589 67514030 + AC110597.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263426 chr6 28977475 28977773 + RN7SL471P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263427 chr17 8056225 8057621 - AC129492.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263429 chr17 10794913 10804099 - TMEM238L protein_coding 0 1 0 0 0 0 0 0 0 ENSG00000263432 chr5 123022487 123022783 - RN7SL689P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263433 chr17 26981694 26982090 + AC069061.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263435 chr17 33976531 33980851 + AC024610.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263436 chr10 101601417 101601497 + MIR3158-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422900 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000263438 chr18 53568447 53597851 + LINC01919 lincRNA 102724651 0 0 0 0 0 0 0 0 0 ENSG00000263439 chr1 235190034 235190116 - MIR4753 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616224 0 1 0 1 1 0 0 0 0 ENSG00000263443 chr8 122700269 122703423 - AC100872.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263445 chr4 76573568 76573632 + MIR4450 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616299 0 0 0 0 0 0 0 0 0 ENSG00000263450 chr18 32954075 32957998 + AC090371.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263453 chr20 57895394 57895444 + MIR4532 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000263456 chr16 88468918 88469031 + MIR5189 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847057 GO:0005615, extracellular space, 0 0 0 1 0 0 0 0 0 ENSG00000263458 chr4 184938383 184938440 - MIR4455 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616111 0 0 0 0 0 0 0 0 0 ENSG00000263460 chr18 3415145 3415580 + BOD1P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263464 chr1 149583865 149584464 + PPIAL4C protein_coding 653598 GO:0070062, GO:0043231, GO:0005737, extracellular exosome, intracellular membrane-bounded organelle, cytoplasm, GO:0016018, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 0 0 0 0 0 0 0 0 0 ENSG00000263465 chr11 95067197 95071224 + SRSF8 protein_coding This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 10929 GO:0016607, GO:0016607, GO:0005829, GO:0005737, GO:0005654, nuclear speck, nuclear speck, cytosol, cytoplasm, nucleoplasm, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0045292, GO:0000381, mRNA cis splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, 45 27 68 91 65 135 61 43 90 ENSG00000263466 chr17 38903704 38904600 - AC006441.1 antisense 9 14 33 30 41 44 46 30 44 ENSG00000263468 chr2 206783234 206783308 + MIR3130-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423002 0 0 0 0 0 0 0 0 0 ENSG00000263476 chr10 45164014 45164088 + MIR3156-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422988 0 0 0 0 0 0 0 0 0 ENSG00000263477 chr17 29863402 29866092 + AC104982.1 antisense 0 0 0 2 0 5 0 0 0 ENSG00000263479 chr6 96914699 96914995 - RN7SL509P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263482 chr10 46233885 46273557 - ANTXRLP1 unprocessed_pseudogene 1 1 3 7 2 20 5 3 6 ENSG00000263483 chr17 22529934 22530609 + MTATP6P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263485 chr17 34080882 34082224 - AC004147.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000263489 chr17 63972920 63989422 - AC127029.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263490 chr19 18631646 18631908 - RN7SL155P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263494 chr17 20185082 20322973 + AC004702.1 lincRNA 0 0 1 0 1 0 0 0 0 ENSG00000263499 chr17 57600856 57608412 - AC007431.1 antisense 101927539 0 2 0 0 0 0 0 0 0 ENSG00000263501 chr17 63305262 63313521 - AC005828.2 antisense 0 1 0 0 1 3 0 0 2 ENSG00000263503 chr17 45600869 45602340 - MAPK8IP1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263505 chr18 1159198 1160404 - AP005265.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263508 chr17 10844674 10880895 + AC015908.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263510 chr12 109833348 109833436 + MIR4497 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616454 0 0 0 0 0 0 0 0 0 ENSG00000263511 chr10 641689 641778 - MIR5699 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847086 0 0 0 0 0 0 0 0 0 ENSG00000263512 chr15 66040233 66040332 + MIR4311 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422905 0 0 0 0 0 0 0 0 0 ENSG00000263513 chr1 143955364 143971965 - FAM72C protein_coding 554282 GO:0043231, GO:0016020, GO:0005829, GO:0005829, intracellular membrane-bounded organelle, membrane, cytosol, cytosol, 0 0 0 0 0 0 0 0 0 ENSG00000263514 chr6 140205252 140205326 + MIR3668 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500879 0 0 0 0 0 0 0 0 0 ENSG00000263515 chrX 106639814 106639896 + MIR548AN miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616144 0 0 0 0 0 4 0 0 0 ENSG00000263520 chr17 65457541 65458408 + LINC02563 lincRNA 105827617 0 0 0 0 0 0 0 0 0 ENSG00000263526 chr1 94745860 94745900 - MIR378G miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616321 0 0 0 0 0 0 0 0 0 ENSG00000263527 chr18 13611114 13611200 + MIR4526 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616130 2 0 0 0 0 1 0 0 0 ENSG00000263528 chr1 206470476 206496889 + IKBKE protein_coding IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]. 9641 GO:0031966, GO:0016605, GO:0010008, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, mitochondrial membrane, PML body, endosome membrane, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, GO:0070530, GO:0042802, GO:0036435, GO:0031625, GO:0019903, GO:0008384, GO:0005524, GO:0005515, GO:0004704, GO:0004674, GO:0004672, K63-linked polyubiquitin modification-dependent protein binding, identical protein binding, K48-linked polyubiquitin modification-dependent protein binding, ubiquitin protein ligase binding, protein phosphatase binding, IkappaB kinase activity, ATP binding, protein binding, NF-kappaB-inducing kinase activity, protein serine/threonine kinase activity, protein kinase activity, GO:0098586, GO:0060340, GO:0043123, GO:0038061, GO:0035666, GO:0035456, GO:0034340, GO:0032480, GO:0018105, GO:0016032, GO:0010884, GO:0008630, GO:0007252, GO:0006955, GO:0006468, cellular response to virus, positive regulation of type I interferon-mediated signaling pathway, positive regulation of I-kappaB kinase/NF-kappaB signaling, NIK/NF-kappaB signaling, TRIF-dependent toll-like receptor signaling pathway, response to interferon-beta, response to type I interferon, negative regulation of type I interferon production, peptidyl-serine phosphorylation, viral process, positive regulation of lipid storage, intrinsic apoptotic signaling pathway in response to DNA damage, I-kappaB phosphorylation, immune response, protein phosphorylation, 47 18 82 104 37 88 72 38 93 ENSG00000263529 chr1 32457835 32458135 + RN7SL122P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263531 chr17 30863921 30864940 - AC130324.1 antisense 0 0 0 0 0 3 0 0 0 ENSG00000263533 chr6 75428407 75428473 + MIR4463 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616389 0 0 0 0 0 0 0 0 0 ENSG00000263535 chr17 31345519 31346190 + AK4P1 processed_pseudogene 6 1 2 1 2 0 3 1 3 ENSG00000263537 chr12 110625645 110625917 - RN7SL387P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263540 chr11 46753125 46753192 - MIR5582 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847020 0 0 0 0 0 0 0 0 0 ENSG00000263547 chr18 76122998 76145255 + AC011095.1 processed_transcript 339298 0 0 0 0 0 0 0 0 0 ENSG00000263551 chr18 976589 1174823 + AP005328.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263556 chr5 44716193 44716486 + RN7SL383P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263558 chr17 59059226 59059493 + RN7SL716P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263561 chr13 66218250 66218324 + MIR4704 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616205 0 0 0 0 0 0 0 0 0 ENSG00000263563 chr17 22090743 22205154 + UBBP4 transcribed_unprocessed_pseudogene 23666 1 1 4 3 15 5 2 3 4 ENSG00000263567 chr17 31762440 31769048 + AC007923.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263571 chr17 34155566 34165679 + AC004147.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263572 chr6 6169304 6169435 - MIR7853 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466866 0 0 0 0 0 0 0 0 0 ENSG00000263573 chr3 15496239 15496308 - MIR4270 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422868 0 0 0 0 0 0 0 0 0 ENSG00000263574 chr17 73737854 73756557 + AC125421.1 lincRNA 100134391 0 0 0 0 0 0 0 0 0 ENSG00000263575 chr9 6007826 6007904 + MIR4665 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616288 35 48 54 8 21 19 30 21 20 ENSG00000263581 chr13 65966330 65966429 - MIR548X2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616302 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000263583 chr17 27293910 27293996 - MIR4522 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616277 0 0 0 0 0 0 0 0 0 ENSG00000263584 chr10 12578753 12578823 + MIR4480 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616151 0 0 3 1 1 0 1 2 3 ENSG00000263585 chr17 81932398 81933058 + AC145207.4 antisense 1 0 0 0 0 0 3 0 0 ENSG00000263586 chr17 74970704 74975728 + HID1-AS1 antisense 102723641 0 0 0 0 0 0 0 0 0 ENSG00000263588 chr18 22088060 22098780 + AC091043.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263590 chr1 143790010 143797108 + LINC02591 lincRNA 103091866 GO:0030533, triplet codon-amino acid adaptor activity, GO:0006412, translation, 0 1 0 0 0 0 1 0 0 ENSG00000263593 chr5 72878591 72878663 + MIR4804 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616152 0 0 2 0 0 0 0 0 0 ENSG00000263594 chr18 67672221 67676078 - AC022655.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263595 chr19 16910490 16910784 - RN7SL823P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263597 chr5 132365490 132365599 - MIR3936 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500865 0 0 0 1 0 0 4 0 0 ENSG00000263600 chrX 32583656 32583752 - MIR3915 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500915 0 0 0 0 0 0 0 0 0 ENSG00000263602 chr17 48724408 48724475 - MIR3185 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422978 0 0 0 0 0 0 0 0 0 ENSG00000263603 chr17 30729469 30731202 + AC127024.2 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000263604 chr17 27683946 27684144 - AC015688.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263606 chr18 2945550 2946890 - AP000919.1 transcribed_processed_pseudogene 18 36 17 15 59 23 16 41 19 ENSG00000263608 chr6 30751038 30751289 + RN7SL353P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263609 chr17 22234328 22266362 - LINC02002 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000263611 chr18 27397952 27401904 + AC068408.1 lincRNA 105372041 0 0 0 0 0 0 0 0 0 ENSG00000263612 chr8 144713899 144714845 + AF186192.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263613 chr17 29009799 29011009 - AC024619.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000263615 chr13 99643059 99643149 + MIR4306 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422861 0 0 0 2 0 0 0 0 0 ENSG00000263616 chr8 8582352 8582655 - RN7SL178P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263618 chr18 14903580 14915628 + AP005121.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263620 chr17 8150816 8162975 - AC129492.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000263622 chr18 65917782 65920942 - AC023394.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263624 chr17 17167946 17185554 - AC055811.1 antisense 3 4 7 11 1 9 10 5 7 ENSG00000263627 chr18 9615264 9619363 + PPP4R1-AS1 lincRNA 101927323 5 13 21 1 3 0 5 5 1 ENSG00000263628 chr10 6152196 6152277 + MIR3155A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422989 0 1 1 0 0 0 0 0 3 ENSG00000263629 chr14 59646962 59647020 - MIR5586 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847088 0 0 0 0 0 0 0 0 0 ENSG00000263631 chr4 5923275 5923328 - MIR378D1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616201 0 0 0 0 0 0 0 0 0 ENSG00000263634 chr3 159282646 159282734 + MIR3919 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500803 0 0 0 0 0 0 0 0 0 ENSG00000263635 chr18 15075445 15122767 + AP005242.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263637 chr18 68753179 68754583 - AC022035.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000263639 chr10 46033307 46046269 - MSMB protein_coding The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]. 4477 GO:0005634, GO:0005615, nucleus, extracellular space, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 1 0 0 0 0 0 0 0 ENSG00000263641 chr2 231362708 231362793 + MIR4777 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616317 0 0 0 0 0 0 0 0 0 ENSG00000263642 chr4 40502040 40502119 - MIR4802 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616274 7 2 3 0 0 6 3 1 5 ENSG00000263643 chr15 83067335 83067415 + MIR4515 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616404 0 0 0 0 0 0 0 0 0 ENSG00000263644 chr17 63391191 63431089 - AC005828.3 antisense 3 7 6 4 4 2 6 4 1 ENSG00000263647 chr17 64761912 64762710 - BPTFP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263648 chr17 12115547 12115885 + AC005244.1 processed_pseudogene 19 26 24 20 50 44 31 40 30 ENSG00000263649 chr6 32749912 32749979 - MIR3135B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616218 GO:1903561, GO:0070062, extracellular vesicle, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000263652 chrX 11318614 11318686 - MIR548AX miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847063 0 0 0 0 0 0 0 0 0 ENSG00000263655 chr18 73914405 74034161 - AC090125.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263657 chr17 29761103 29787836 + AC023389.1 antisense 291 325 285 120 266 126 151 174 153 ENSG00000263666 chr16 71698567 71698701 - SNORA70D snoRNA 100379141 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000263667 chr6 181466 205484 - AL035696.3 lincRNA 285766 0 0 0 0 0 0 0 1 0 ENSG00000263669 chr2 70075014 70075272 - RN7SL470P misc_RNA 0 0 0 0 0 0 2 0 0 ENSG00000263670 chr5 1309310 1309377 - MIR4457 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616235 0 0 0 0 0 0 0 0 0 ENSG00000263672 chr7 100821027 100821264 - RN7SL750P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263674 chr17 32280387 32280953 - AC026620.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263675 chr1 37500935 37500994 - MIR5581 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847010 0 0 0 0 0 0 0 0 0 ENSG00000263676 chr1 12191713 12191773 + MIR4632 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616438 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1904706, GO:0036120, GO:0035195, negative regulation of vascular associated smooth muscle cell proliferation, cellular response to platelet-derived growth factor stimulus, gene silencing by miRNA, 5 5 3 1 11 12 8 7 6 ENSG00000263677 chr18 26688111 26689668 + AC012588.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000263680 chr17 72425939 72428852 + AC007639.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263681 chr21 41167557 41167629 + MIR3197 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423023 0 0 0 0 0 0 0 0 0 ENSG00000263682 chr18 11326270 11328832 + AP005139.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263683 chr7 30550217 30551569 + AC005154.3 lincRNA 11 23 17 18 37 35 30 37 31 ENSG00000263684 chr17 11874932 11875828 - AC005209.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263688 chr18 32581528 32582828 + AC025887.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263690 chr17 67471489 67471585 - MIR548D2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693131 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 3 ENSG00000263693 chr11 48096782 48096858 + MIR3161 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423000 2 0 1 0 5 6 0 1 0 ENSG00000263697 chr9 137169186 137169270 - MIR3621 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500811 0 0 0 0 0 0 0 0 0 ENSG00000263698 chr18 31131456 31132494 + AC012417.1 antisense 0 0 3 0 0 0 0 0 0 ENSG00000263705 chr6 10439717 10439794 + MIR5689 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846998 0 0 0 0 0 0 0 0 0 ENSG00000263707 chr17 12990149 12990610 - AC005277.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000263708 chr17 9283174 9305651 + AC005695.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263709 chr17 29140483 29155489 + AC024619.3 antisense 0 0 0 1 2 0 2 0 0 ENSG00000263711 chr18 73151241 73264480 - AC079062.1 processed_transcript 400655 0 0 0 0 0 0 0 0 0 ENSG00000263712 chr6 16141556 16141624 + MIR4639 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616269 1 3 4 4 12 2 5 3 17 ENSG00000263715 chr17 45620344 45835826 + LINC02210-CRHR1 protein_coding This locus represents naturally occurring readthrough transcription between neighboring genes CRHR1-IT1, CRHR1 intronic transcript 1 (Gene ID: 147081) and CRHR1, corticotropin releasing hormone receptor 1 (Gene ID: 1394) on chromosome 17. The readthrough transcript encodes a protein that shares sequence identity with the product of the CRHR1 gene. [provided by RefSeq, Dec 2016]. 104909134 0 0 0 0 0 0 0 0 0 ENSG00000263716 chr18 7134931 7135819 + SLC25A51P2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000263717 chr17 32512869 32519350 - AC079336.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000263718 chr17 77257737 77281897 - AC068594.1 lincRNA 105371907 0 0 0 0 0 0 0 0 0 ENSG00000263720 chr18 65865262 65866397 + AC023394.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000263723 chr2 237869904 237869982 + RF00157 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000263724 chr18 3878180 3897069 + DLGAP1-AS3 antisense 201477 0 0 0 0 0 0 0 0 0 ENSG00000263725 chr17 22221221 22221605 + FTLP13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263727 chr18 653985 657259 - AP001178.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000263729 chr17 20983902 20984046 + AC087393.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000263730 chrX 39661216 39661321 + MIR3937 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500822 0 0 0 0 0 0 0 0 0 ENSG00000263731 chr17 81878425 81881106 - AC145207.5 lincRNA 10 17 18 86 86 112 92 31 89 ENSG00000263733 chr18 71225704 71226721 + AC091691.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263734 chr6 91521660 91521737 + MIR4643 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616174 0 0 0 0 0 0 0 0 0 ENSG00000263735 chr8 124821978 124822058 - MIR4662B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616255 0 0 0 0 0 0 0 0 0 ENSG00000263740 chr3 15738515 15738809 + RN7SL4P misc_RNA 1 1 7 0 3 2 3 8 2 ENSG00000263741 chr13 92490163 92490220 + MIR548AS miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847092 0 0 0 0 0 0 0 0 0 ENSG00000263742 chr11 72072228 72072302 - MIR3165 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422953 0 0 0 0 0 0 1 0 0 ENSG00000263744 chr11 70872270 70872368 - MIR3664 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500844 0 0 0 0 0 0 0 0 0 ENSG00000263745 chr18 1883524 2489426 - AP005230.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263746 chr5 1708785 1708868 - MIR4277 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422966 0 0 0 0 0 0 0 0 0 ENSG00000263748 chr18 21182503 21183499 - EXOGP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263749 chr17 32343528 32344124 - OOSP1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263750 chr18 72853321 72853382 - MIR548AV miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847083 0 0 0 0 0 0 0 0 0 ENSG00000263752 chr2 241477905 241477982 + MIR3133 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422942 0 0 0 0 0 0 0 0 0 ENSG00000263753 chr18 5237826 5246508 + LINC00667 lincRNA 339290 48 47 65 85 56 162 80 64 75 ENSG00000263755 chr20 6001733 6002030 + RN7SL498P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263756 chr6 32972065 32972853 - AL645941.3 antisense 32 25 0 84 11 1 31 15 0 ENSG00000263761 chr10 47322490 47326270 + GDF2 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]. 2658 GO:0070062, GO:0005615, GO:0005576, extracellular exosome, extracellular space, extracellular region, GO:0008083, GO:0005515, GO:0005125, growth factor activity, protein binding, cytokine activity, GO:2000279, GO:0071773, GO:0061036, GO:0060395, GO:0060389, GO:0051216, GO:0048514, GO:0045944, GO:0045893, GO:0045766, GO:0045603, GO:0043537, GO:0032924, GO:0032757, GO:0030513, GO:0030509, GO:0030509, GO:0030308, GO:0016525, GO:0010862, GO:0010862, GO:0010596, GO:0008156, GO:0006879, GO:0001938, GO:0001937, GO:0001649, GO:0001570, GO:0001569, GO:0001525, GO:0001503, negative regulation of DNA biosynthetic process, cellular response to BMP stimulus, positive regulation of cartilage development, SMAD protein signal transduction, pathway-restricted SMAD protein phosphorylation, cartilage development, blood vessel morphogenesis, positive regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, positive regulation of angiogenesis, positive regulation of endothelial cell differentiation, negative regulation of blood vessel endothelial cell migration, activin receptor signaling pathway, positive regulation of interleukin-8 production, positive regulation of BMP signaling pathway, BMP signaling pathway, BMP signaling pathway, negative regulation of cell growth, negative regulation of angiogenesis, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, negative regulation of endothelial cell migration, negative regulation of DNA replication, cellular iron ion homeostasis, positive regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, osteoblast differentiation, vasculogenesis, branching involved in blood vessel morphogenesis, angiogenesis, ossification, 0 0 0 0 0 0 0 0 0 ENSG00000263762 chr8 10666978 10667070 + MIR4286 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422982 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000263763 chr8 129484057 129484142 - MIR3686 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500839 0 0 0 0 0 0 0 0 0 ENSG00000263764 chr22 39319050 39319113 - SNORD43 snoRNA Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]. 26807 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000263765 chr18 32833454 32938316 + AC090371.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263766 chr17 47603860 47649420 - AC025682.1 antisense 398 339 465 303 418 377 352 295 333 ENSG00000263772 chr18 31726043 31726397 - AC017100.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263776 chr3 186787612 186787749 + SNORA4 snoRNA 619568 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000263781 chr17 29021325 29021640 - AC024619.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263783 chr2 134857820 134857873 + MIR5590 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847069 0 0 0 0 0 0 0 0 0 ENSG00000263785 chr16 83508346 83508408 + MIR3182 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422853 0 0 0 0 0 0 0 0 0 ENSG00000263786 chr17 75145261 75146546 - AC022211.1 sense_intronic 2 8 14 22 35 39 42 22 44 ENSG00000263787 chr17 48185938 48204529 + SKAP1-AS1 antisense 0 2 4 2 1 0 6 3 2 ENSG00000263788 chr17 28256375 28256669 - AC061975.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263790 chr9 20411148 20411238 - MIR4473 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616229 0 0 0 0 0 0 0 0 0 ENSG00000263793 chr1 23044305 23044372 + MIR3115 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422866 0 0 0 0 0 0 0 0 0 ENSG00000263794 chr8 33715784 33716070 + RN7SL457P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263795 chr10 42997563 42997681 + MIR5100 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847014 0 0 0 0 0 0 0 0 0 ENSG00000263797 chr18 6873399 6875024 - AP005210.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263798 chr17 47945424 47981736 + AC018521.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000263800 chr19 12787128 12787192 + MIR5684 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847071 0 0 3 10 0 0 1 1 1 ENSG00000263809 chr17 8368638 8383187 - AC135178.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000263811 chr1 16858949 16859021 - MIR3675 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500876 0 0 0 0 0 0 0 0 0 ENSG00000263812 chr18 76528655 76610968 + LINC00908 lincRNA 0 1 4 2 5 6 3 6 5 ENSG00000263813 chr2 134127125 134127192 + MIR3679 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500878 GO:1903561, GO:0070062, extracellular vesicle, extracellular exosome, 0 0 0 1 0 0 0 0 0 ENSG00000263815 chr17 21229334 21229628 - RN7SL426P misc_RNA 0 0 1 0 0 0 0 0 4 ENSG00000263816 chr9 132945707 132945771 + MIR548AW miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846992 0 0 0 0 0 0 0 0 0 ENSG00000263818 chr17 39057019 39113190 + RDM1P5 transcribed_processed_pseudogene 100131347 5 4 5 6 0 2 3 0 6 ENSG00000263821 chr18 14978739 14979839 + AP005121.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263823 chr18 31942575 31944156 + AC009831.1 antisense 106 100 91 35 43 30 29 62 56 ENSG00000263826 chr3 186781780 186784179 - AC112907.3 antisense 151 167 224 458 607 627 338 276 310 ENSG00000263828 chr2 225010461 225010540 - MIR4439 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616207 0 0 0 0 0 0 0 0 0 ENSG00000263829 chr18 26255698 26256355 - SINHCAFP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263831 chr5 170028488 170028566 + MIR378E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616498 GO:1903561, extracellular vesicle, 0 0 0 1 2 5 1 0 0 ENSG00000263834 chr5 1062896 1062974 - MIR4635 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616479 0 0 0 0 0 0 0 0 0 ENSG00000263838 chr12 47187812 47187891 + MIR4698 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616486 0 0 1 0 0 0 0 0 0 ENSG00000263841 chr1 153500463 153500764 - RN7SL44P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263843 chr17 75271369 75273895 + AC022211.2 antisense 100287042 7 3 15 28 8 45 14 8 26 ENSG00000263846 chr18 26599408 26600338 + CIAPIN1P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263847 chr18 9112404 9115877 - AP005899.1 antisense 9 5 24 6 15 16 5 4 14 ENSG00000263849 chr18 49049687 49049768 - MIR4744 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616420 0 0 0 2 0 0 0 0 0 ENSG00000263857 chr17 59366083 59366154 + MIR4729 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616204 0 0 0 0 0 0 0 0 0 ENSG00000263858 chrX 47587429 47587505 + MIR4769 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616147 0 0 0 0 0 2 0 0 0 ENSG00000263859 chr17 81878667 81879557 + AC145207.6 lincRNA 6 8 12 52 34 66 49 14 40 ENSG00000263860 chr17 30550493 30551189 - AC011840.3 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000263861 chr9 109511475 109511545 - MIR3927 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500898 0 0 0 0 0 0 0 0 0 ENSG00000263862 chr18 26422995 26426101 + LINC01543 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263863 chr18 65105873 65125710 - AC007948.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263870 chr17 28444063 28445563 - AC015917.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263872 chr18 53237101 53237190 + MIR4528 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616232 0 0 0 0 0 0 0 0 0 ENSG00000263873 chr11 119417951 119419114 + AP003396.5 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000263874 chr17 38925168 38929384 + LINC00672 protein_coding 36 53 59 29 49 81 33 36 70 ENSG00000263878 chr18 3962353 4013943 + DLGAP1-AS4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263881 chr2 110284853 110284943 + MIR4436B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847033 0 0 0 0 0 0 0 0 0 ENSG00000263882 chr17 4364164 4364453 - RN7SL774P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263883 chr17 63636601 63637113 + EEF1DP7 transcribed_processed_pseudogene 16 12 14 8 13 11 8 10 12 ENSG00000263884 chr18 268148 270278 + AP000845.1 lincRNA 0 0 0 0 3 0 0 0 5 ENSG00000263885 chr11 101519820 101519905 - MIR3920 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500823 0 0 0 0 0 0 0 0 0 ENSG00000263887 chr17 62282702 62297026 - AC053481.2 transcribed_unprocessed_pseudogene 3 3 2 0 0 2 2 6 1 ENSG00000263890 chr12 97995383 97995448 - MIR4303 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422924 0 0 0 0 0 0 0 0 0 ENSG00000263892 chr9 35608094 35608159 + MIR4667 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616214 0 0 0 0 0 0 0 0 0 ENSG00000263893 chr17 72642731 72644490 + AC080037.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000263894 chr6 36622436 36622512 - MIR3925 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500885 0 0 0 0 1 3 0 0 0 ENSG00000263895 chr18 49431744 49447420 - AC100778.1 sense_intronic 0 0 0 0 1 0 0 0 0 ENSG00000263897 chr9 134379411 134379472 + MIR4669 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616236 0 2 0 0 0 0 0 0 0 ENSG00000263904 chr18 32245946 32249032 - AC015563.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000263905 chr20 3094171 3094509 + RN7SL555P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263908 chr1 62078786 62078859 + MIR3116-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422902 0 0 0 0 0 0 0 0 0 ENSG00000263909 chr2 75090812 75090914 + MIR5000 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846995 0 0 0 0 0 0 0 0 0 ENSG00000263914 chr17 22525899 22526937 + MTND2P13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263916 chr18 49484536 49486149 - AC100778.2 sense_intronic 4 7 3 31 28 20 5 23 2 ENSG00000263917 chr18 32018829 32111779 + AC011825.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000263918 chr16 14907717 14907781 + MIR3670-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500910 0 0 0 0 0 0 0 0 0 ENSG00000263923 chr4 98928897 98994994 + AC019131.1 antisense 0 0 0 0 13 0 1 0 0 ENSG00000263924 chr18 31844388 31845178 + AC022960.1 antisense 2 2 8 3 10 13 20 9 11 ENSG00000263926 chr6 37555365 37555422 - MIR4462 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616413 0 1 0 1 0 0 1 0 2 ENSG00000263932 chr3 183886800 183886885 + MIR4448 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616127 0 0 0 0 0 0 0 0 0 ENSG00000263934 chr17 19188016 19188714 + SNORD3A snoRNA 3 1 4 16 20 37 9 12 33 ENSG00000263935 chr18 8688022 8688410 - TOMM20P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263938 chr17 58965952 58966727 + AC100832.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000263940 chr4 110117736 110118070 + RN7SL275P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263941 chr2 233205199 233205479 + RN7SL32P misc_RNA 2 5 3 1 9 17 17 7 5 ENSG00000263944 chr11 59291052 59291333 - RN7SL435P misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000263945 chr14 47760995 47761104 - MIR548Y miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500919 0 0 0 0 0 0 0 0 0 ENSG00000263946 chr17 20554971 20559410 - AC015818.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263952 chr18 10893617 10908783 + AP005120.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263955 chr16 4633591 4633881 - RN7SL850P misc_RNA 1 0 0 0 0 0 0 0 6 ENSG00000263956 chr1 148102046 148152322 - NBPF11 protein_coding 200030 GO:0005737, cytoplasm, 59 37 115 83 22 97 78 17 95 ENSG00000263958 chr18 72868388 72881399 + AC091138.1 lincRNA 100505797 0 0 0 0 0 0 0 0 0 ENSG00000263961 chr1 206052723 206102459 + RHEX protein_coding 440712 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0005515, GO:0005128, protein binding, erythropoietin receptor binding, GO:0045648, GO:0043249, GO:0038162, GO:0036018, positive regulation of erythrocyte differentiation, erythrocyte maturation, erythropoietin-mediated signaling pathway, cellular response to erythropoietin, 1 1 2 4 1 0 0 0 0 ENSG00000263963 chr5 134928039 134928112 + MIR4461 miRNA 0 0 0 2 1 0 0 0 0 ENSG00000263964 chr15 28490752 28490845 - MIR4509-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616382 0 0 0 0 0 0 0 0 0 ENSG00000263967 chr9 90023441 90023535 - MIR4290 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422963 0 0 0 0 0 0 0 0 0 ENSG00000263968 chr16 85659378 85659675 + RN7SL381P misc_RNA 7 11 10 10 11 15 10 9 11 ENSG00000263969 chr21 37215605 37215903 + RN7SL678P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263970 chr18 8406761 8406953 - AP001094.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000263972 chrX 39837561 39837613 + MIR1587 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616251 0 0 0 0 0 0 0 0 0 ENSG00000263973 chr21 40212352 40212431 - MIR4760 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616148 0 0 0 0 0 0 0 0 0 ENSG00000263974 chr19 2595019 2595291 - RN7SL121P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263976 chr17 20491323 20491443 - YWHAEP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000263978 chr13 20433778 20433846 - MIR4499 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616304 0 0 0 0 0 0 0 0 0 ENSG00000263979 chr9 127869415 127869495 - MIR4672 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616429 0 0 0 0 0 0 0 0 0 ENSG00000263981 chr4 87300495 87300583 - MIR5705 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847027 0 0 0 0 0 0 0 0 0 ENSG00000263982 chr18 76372717 76378275 + AC009716.1 antisense 6 9 8 38 64 12 58 30 37 ENSG00000263986 chr17 20999747 21000323 + AC087393.2 antisense 165 182 219 84 185 143 132 123 116 ENSG00000263987 chr1 154104521 154104592 - MIR5698 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847024 0 0 0 0 0 0 0 0 0 ENSG00000263988 chr3 11952788 11953085 - RN7SL147P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263989 chr20 41290280 41290577 - RN7SL615P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263990 chr17 31873926 31886666 + AC004253.1 lincRNA 3 11 3 5 10 6 6 9 3 ENSG00000263993 chr11 75742129 75742426 + RN7SL786P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000263999 chr11 59214406 59214699 - RN7SL42P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264000 chr18 5567130 5570942 + AP005059.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264002 chr21 9902344 9902627 - RN7SL52P misc_RNA 0 0 0 4 0 0 0 0 0 ENSG00000264004 chr16 2274620 2274691 + MIR4717 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616241 0 0 0 0 0 0 0 0 0 ENSG00000264005 chr17 8088056 8088147 + MIR4314 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422983 0 0 0 0 0 0 0 0 0 ENSG00000264006 chr10 5154140 5185187 - AKR1C8P protein_coding 340811 GO:0005737, cytoplasm, GO:0016491, GO:0005515, oxidoreductase activity, protein binding, GO:0055114, oxidation-reduction process, 0 0 2 0 0 0 0 0 0 ENSG00000264007 chr17 29621617 29622254 - AC104564.2 sense_intronic 0 1 0 0 8 5 7 6 0 ENSG00000264010 chr2 11540605 11540677 - MIR4429 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616469 0 0 0 0 0 0 0 0 0 ENSG00000264012 chr18 22175465 22176662 - AC091588.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264013 chr3 55852492 55852594 - MIR3938 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500875 0 0 0 0 0 0 0 0 0 ENSG00000264014 chr1 22863159 22863226 - MIR4253 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422914 0 0 0 0 0 0 0 0 0 ENSG00000264015 chr18 77421619 77560763 + AC124254.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264016 chr17 10741267 10769016 - AC015908.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264017 chr6 89090946 89091242 + RN7SL336P misc_RNA 12 4 5 14 17 8 6 8 0 ENSG00000264019 chr17 47946802 47948275 - AC018521.2 antisense 2 4 5 2 1 5 0 2 7 ENSG00000264023 chr17 21457434 21458989 + AC068418.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264024 chr14 105858124 105858175 - MIR4507 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616135 0 0 0 0 0 0 0 0 0 ENSG00000264026 chr17 72342940 72355136 + LINC02003 lincRNA 146795 0 0 0 0 0 0 0 0 0 ENSG00000264028 chr12 54344610 54344876 + RN7SL744P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264029 chr17 28274657 28275716 - AC061975.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264030 chr2 10280628 10280891 + RN7SL66P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264031 chr17 29560547 29707090 + ABHD15-AS1 antisense 2 2 2 0 6 6 0 1 0 ENSG00000264032 chr11 111347757 111347824 + MIR4491 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616330 0 0 0 0 0 0 0 0 0 ENSG00000264036 chr10 12328132 12328389 - RN7SL198P misc_RNA 0 0 0 0 0 0 3 0 0 ENSG00000264037 chr12 116428252 116428318 - MIR4472-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616309 0 0 0 0 0 0 0 0 0 ENSG00000264040 chr18 67602692 67603022 - AC022662.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264041 chr2 203259604 203259897 + RN7SL670P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264044 chr17 28633206 28635950 + AC005726.2 antisense 145 224 235 120 160 126 125 98 139 ENSG00000264047 chr2 43904412 43904693 + RN7SL455P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264049 chr17 60043025 60043105 - MIR4737 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616210 0 1 0 0 0 0 0 1 0 ENSG00000264050 chr17 29197071 29197785 - AC005412.1 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000264054 chr18 67137611 67137751 - RPL31P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264056 chr6 53276993 53277071 + MIR5685 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847075 7 1 4 7 9 15 2 7 1 ENSG00000264057 chr17 64927634 64934203 + AC103810.1 transcribed_unprocessed_pseudogene 2 2 1 1 0 0 1 0 0 ENSG00000264058 chr17 40627356 40665141 - AC073508.2 protein_coding 2 3 0 0 1 0 5 1 0 ENSG00000264060 chr17 77396984 77397054 - MIR4316 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422851 0 0 0 0 0 0 0 0 0 ENSG00000264061 chr18 14888709 14890086 - FGF7P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264063 chr21 8987370 8987430 + MIR3687-2 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000264066 chr17 28861072 28861966 - AC024267.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264067 chr17 10320392 10341458 + AC005291.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264069 chr7 43150895 43150994 + MIR3943 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500829 0 0 0 0 0 0 0 0 0 ENSG00000264070 chr17 45585871 45586929 + DND1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264071 chr2 43492032 43492313 + RN7SL531P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264072 chr18 10627646 10628846 - AP001180.2 lincRNA 2 1 0 0 0 0 0 0 0 ENSG00000264073 chr22 27920525 27920612 - MIR3199-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423034 1 0 0 0 0 5 0 0 0 ENSG00000264075 chr2 127423537 127423618 - MIR4783 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616187 0 1 0 0 0 0 0 0 0 ENSG00000264078 chr1 31644694 31649371 + AC114488.3 antisense 2 2 0 2 2 0 0 0 0 ENSG00000264080 chr18 1780329 1782064 + AP005057.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264083 chr17 32430967 32432841 + AC005899.1 lincRNA 2 1 1 0 1 4 3 1 7 ENSG00000264084 chr3 85385710 85385792 + MIR5688 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847077 0 0 0 0 0 0 0 0 0 ENSG00000264089 chr2 12199130 12199201 + MIR3681 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500884 0 0 0 0 0 0 0 0 0 ENSG00000264090 chrX 29574278 29574358 + MIR4666B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847047 0 0 0 0 0 0 0 0 0 ENSG00000264092 chr8 16863196 16863496 - RN7SL474P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264093 chr17 67276118 67276351 - AC007448.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264099 chr5 72169467 72169540 + MIR4803 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616377 0 0 0 1 0 0 0 0 0 ENSG00000264101 chr1 5862672 5862741 - MIR4689 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616421 0 0 0 0 0 0 0 0 0 ENSG00000264102 chr11 46376402 46376484 + MIR4688 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616368 0 0 0 0 0 0 0 0 0 ENSG00000264104 chr18 67788268 67791035 - AC114689.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264105 chr4 159128802 159128894 - MIR3688-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500881 0 0 0 1 0 0 0 0 0 ENSG00000264107 chr17 31090787 31095450 - AC138207.2 antisense 8 11 15 4 8 2 5 12 3 ENSG00000264108 chr18 76008118 76015861 - AC090457.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264110 chr11 81890741 81890836 - MIR4300 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422823 0 0 0 0 0 0 0 0 0 ENSG00000264112 chr17 57989039 57994850 - AC015813.1 lincRNA 96 127 112 71 158 128 107 60 85 ENSG00000264113 chr17 4882975 4883316 + RN7SL784P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264115 chr16 15154850 15155002 - MIR3180-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500852 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000264116 chr18 75407012 75426607 + AC116003.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264119 chr3 87226189 87226277 - MIR4795 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616161 0 0 0 0 2 0 0 0 0 ENSG00000264125 chr17 30204318 30206468 + AC104984.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264127 chr18 6926944 6928210 + SCML2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264128 chr1 58565631 58565932 - RN7SL713P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264131 chr18 65186159 65187018 + AC007631.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264136 chr9 134850277 134850356 - MIR3689D2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616344 0 0 0 0 0 0 0 0 0 ENSG00000264138 chr17 28848860 28849592 + AC024267.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264139 chr22 49543393 49543466 - MIR3667 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500882 0 0 0 0 0 0 0 0 0 ENSG00000264141 chr22 31160062 31160119 - MIR3928 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500901 0 1 0 0 0 0 0 0 0 ENSG00000264145 chr1 143449571 143450245 - AC239859.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264148 chr17 31008154 31008319 - AC138207.3 processed_pseudogene 0 0 0 1 1 0 3 0 0 ENSG00000264149 chr18 21871446 21893996 - AC103987.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264150 chr18 2568392 2569122 + AP005136.1 processed_pseudogene 0 0 0 0 1 0 0 0 1 ENSG00000264151 chr18 27336379 27595164 - AC090403.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264157 chr2 96798278 96798353 + MIR3127 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422928 0 1 0 0 0 2 0 1 0 ENSG00000264158 chr9 92527984 92528058 - MIR4670 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616351 0 0 0 0 0 0 0 0 0 ENSG00000264160 chr22 45760524 45760598 + MIR4762 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616253 0 0 0 0 0 0 0 0 0 ENSG00000264163 chr9 134850125 134850272 - MIR3689B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500906 0 0 0 0 0 0 0 0 0 ENSG00000264164 chr17 32083179 32097065 + AC090616.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264167 chr17 17777781 17779094 + AC122129.2 sense_intronic 0 1 2 0 0 0 0 1 0 ENSG00000264168 chr17 22524738 22525686 + MTND1P15 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264169 chr9 130400266 130400565 + RN7SL665P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264171 chr13 39664034 39664135 - MIR4305 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422940 0 0 0 0 0 0 0 0 0 ENSG00000264172 chr17 27002661 27003259 - PDLIM1P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264174 chr17 34725509 34726170 - AC005552.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264175 chr19 18386562 18386634 + MIR3189 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422943 0 0 0 0 0 0 0 0 0 ENSG00000264176 chr17 10716002 10716511 - MAGOH2P transcribed_processed_pseudogene 1 1 3 1 4 6 0 1 0 ENSG00000264177 chr17 18379855 18388984 - AL353997.2 antisense 0 0 0 0 1 0 0 0 0 ENSG00000264179 chr18 856526 857045 + AP000894.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264186 chr18 2990652 2991078 + SNRPCP4 processed_pseudogene 1 1 5 2 4 7 0 4 7 ENSG00000264187 chr17 17202649 17237185 - AC055811.2 protein_coding 0 0 5 52 76 47 63 33 26 ENSG00000264188 chr18 21661787 21662395 - AC106037.1 sense_intronic 3 13 7 9 22 15 23 13 24 ENSG00000264189 chr18 1927727 1929094 - AP005262.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264192 chr2 21922993 21923288 + RN7SL117P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264193 chr18 25953216 25953468 - AC027229.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264196 chr17 72839039 72839718 + AC011120.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264200 chr11 103849906 103849980 + MIR4693 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616457 0 0 0 0 0 0 0 0 0 ENSG00000264201 chr12 48771975 48772037 - MIR4701 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616262 0 0 0 0 0 0 0 0 0 ENSG00000264204 chr10 46109621 46131358 + AGAP7P unprocessed_pseudogene 338 371 372 374 566 446 313 335 441 ENSG00000264207 chr1 149861271 149862504 + AC239868.1 antisense 0 1 3 0 0 0 0 0 0 ENSG00000264210 chr15 49169070 49169153 - MIR4716 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616332 0 0 0 0 0 0 0 0 0 ENSG00000264211 chr11 118910708 118910787 + MIR4492 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616376 0 0 0 0 0 4 0 0 0 ENSG00000264212 chr18 76256891 76258337 + AC103808.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264215 chr17 20788071 20789584 + AC126365.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000264217 chr10 45940522 45940851 + RPL35AP25 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264226 chr13 41101019 41101100 - MIR3168 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422878 0 0 0 0 0 0 2 0 0 ENSG00000264229 chr2 121530881 121531007 + RNU4ATAC snRNA The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]. 100151683 GO:0005690, U4atac snRNP, GO:0030627, GO:0030624, pre-mRNA 5'-splice site binding, U6atac snRNA binding, GO:0000395, GO:0000244, mRNA 5'-splice site recognition, spliceosomal tri-snRNP complex assembly, 0 0 0 8 5 2 2 8 2 ENSG00000264230 chr10 46375627 46391784 + ANXA8L1 protein_coding This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014]. 728113 GO:0005737, cytoplasm, GO:0005544, GO:0005509, calcium-dependent phospholipid binding, calcium ion binding, GO:1900138, GO:1900004, GO:0016197, GO:0007032, negative regulation of phospholipase A2 activity, negative regulation of serine-type endopeptidase activity, endosomal transport, endosome organization, 0 0 1 0 0 0 0 0 0 ENSG00000264232 chr18 65424013 65447512 + LINC01916 lincRNA 107985128 0 0 0 0 0 0 0 0 0 ENSG00000264233 chr5 535840 535882 - MIR4456 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616381 0 0 0 0 0 0 0 0 0 ENSG00000264235 chr18 3255436 3261850 - AP005329.1 antisense 104968399 892 707 920 409 602 522 574 661 522 ENSG00000264236 chr18 68992718 68993375 - AC096708.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264240 chr17 27677805 27678087 - CPDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264243 chr17 47863342 47865190 + AC018521.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264245 chr17 21573770 21574073 + AC233702.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264246 chr18 4430945 4431152 + AP005208.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264247 chr18 74591774 74598508 - LINC00909 lincRNA 139 99 103 41 65 67 45 48 43 ENSG00000264249 chr5 171386656 171386760 - MIR3912 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500831 0 0 0 1 3 0 0 0 0 ENSG00000264250 chr19 16907462 16907723 + RN7SL835P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264251 chr17 44718861 44719130 - RN7SL819P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264254 chr18 5310396 5317664 + AP001496.1 lincRNA 1 0 0 0 0 1 1 0 3 ENSG00000264257 chr19 54786355 54790318 + KIR3DP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264260 chr18 76209510 76215702 + LINC01893 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264262 chr17 22676695 22692618 - AC131274.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264265 chr18 508568 515294 - LINC01925 lincRNA 105376854 0 0 0 0 0 0 0 0 0 ENSG00000264266 chr19 10230413 10230485 + MIR4322 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422925 0 0 0 0 0 0 0 0 0 ENSG00000264268 chrX 7147860 7147937 + MIR4767 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616467 0 0 0 0 0 0 0 0 0 ENSG00000264269 chr18 49023703 49048474 + AC016866.1 antisense 100129878 2 0 0 1 2 0 1 7 0 ENSG00000264270 chr17 75683543 75684799 - AC087749.1 antisense 7 4 3 13 21 29 16 6 29 ENSG00000264271 chr1 63529613 63529898 - RN7SL488P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264272 chr17 74256896 74262020 - AC100786.1 antisense 2 0 5 1 3 0 7 5 5 ENSG00000264273 chr17 18859354 18861466 - AC107982.2 antisense 0 0 1 0 0 5 0 4 0 ENSG00000264274 chr4 147782595 147782668 + MIR4799 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616246 0 0 0 0 0 0 0 0 0 ENSG00000264275 chr2 202333439 202333728 + RN7SL753P misc_RNA 0 0 0 0 0 1 0 0 0 ENSG00000264278 chr18 76794732 76822295 - ZNF236-DT lincRNA 100131655 7 6 9 10 10 5 3 3 6 ENSG00000264279 chr2 239943015 239943094 - MIR4786 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616417 0 0 1 0 1 1 1 0 0 ENSG00000264281 chr5 55944656 55944733 + AC016596.1 processed_pseudogene 43 17 52 45 41 93 53 53 59 ENSG00000264289 chr18 21914369 21914660 - AC103987.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264290 chr17 29569580 29570519 + AC104564.3 sense_intronic 0 0 3 2 0 0 0 0 0 ENSG00000264292 chr2 239351724 239351804 - MIR2467 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616360 0 0 1 0 0 0 0 0 0 ENSG00000264293 chr1 1405460 1405752 - RN7SL657P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264294 chr1 44775864 44775943 + SNORD55 snoRNA 26811 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000264295 chr12 104591633 104591716 + MIR3922 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500843 0 0 0 0 3 1 0 0 0 ENSG00000264296 chr18 54142133 54142577 + AC090666.1 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000264297 chr2 64340747 64340848 - MIR4433B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465833 GO:0005615, extracellular space, 3 2 2 0 6 1 2 3 4 ENSG00000264300 chr17 32003110 32006688 - AC090616.3 transcribed_processed_pseudogene 0 0 0 3 0 0 0 4 0 ENSG00000264301 chr18 14969001 14970468 - LINC01444 lincRNA 101927642 0 0 0 0 0 0 0 0 0 ENSG00000264304 chr17 28892469 28893342 + AC024267.3 antisense 37 45 62 33 78 66 78 39 54 ENSG00000264309 chr11 19760004 19760083 - MIR4694 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616426 0 0 0 0 0 0 0 0 0 ENSG00000264311 chr18 10623876 10624305 - CCDC58P1 processed_pseudogene 3 2 0 2 0 7 1 1 0 ENSG00000264313 chr10 92659044 92659302 + RN7SL644P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264314 chr17 42494773 42494830 + MIR548AT miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847030 0 0 3 0 0 0 4 1 0 ENSG00000264315 chr18 72618267 72619222 + HNRNPA1P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264316 chr17 22530612 22531392 + MTCO3P13 unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000264317 chr19 34421988 34422311 - RN7SL154P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264319 chr4 37241910 37241991 - MIR4801 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616435 0 0 0 0 0 0 0 0 0 ENSG00000264322 chr17 60899891 60900185 + RN7SL448P misc_RNA 0 0 0 0 0 0 4 0 1 ENSG00000264324 chr2 74211604 74363377 - AC006030.1 protein_coding 15 18 35 21 19 36 19 10 26 ENSG00000264330 chr3 151565876 151565995 - MIR5186 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847036 0 0 0 0 0 0 0 0 0 ENSG00000264334 chr18 77983020 77986610 - AC134978.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264339 chr18 738058 739444 + AP001020.1 antisense 1 1 1 0 0 2 0 0 0 ENSG00000264340 chr18 74561381 74562100 - AC009704.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264341 chr1 5564071 5564143 + MIR4417 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000264342 chr5 90016621 90016720 - MIR3660 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500825 0 0 0 0 0 0 0 0 0 ENSG00000264343 chr1 146146203 146229026 - NOTCH2NLA protein_coding 388677 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0005515, GO:0005509, GO:0005112, GO:0005112, protein binding, calcium ion binding, Notch binding, Notch binding, GO:0045747, GO:0030154, GO:0021987, GO:0007219, positive regulation of Notch signaling pathway, cell differentiation, cerebral cortex development, Notch signaling pathway, 39 53 43 16 17 22 17 14 14 ENSG00000264345 chr18 24933487 24987682 - LINC01894 lincRNA 105372030 0 0 0 0 0 0 0 0 0 ENSG00000264346 chr22 20126402 20126526 + RF00599 snoRNA 109617010 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000264349 chr1 154975693 154975783 + MIR4258 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423020 0 0 0 0 0 0 0 0 0 ENSG00000264350 chr18 54406889 54407114 - SNRPGP2 processed_pseudogene 0 0 1 0 0 0 1 2 0 ENSG00000264352 chr2 34809233 34809556 - RN7SL602P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264354 chr3 15697298 15697371 - MIR3134 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422990 0 0 0 0 0 0 0 1 0 ENSG00000264357 chr7 2527074 2527145 + MIR4648 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616116 1 0 0 0 1 0 0 1 0 ENSG00000264358 chr1 212077613 212077685 + MIR3122 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422947 0 0 0 0 0 0 0 0 0 ENSG00000264359 chr17 16666107 16667118 - NEK4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264364 chr17 58083415 58095536 + DYNLL2 protein_coding 140735 GO:0098978, GO:0098978, GO:0098794, GO:0098794, GO:0097731, GO:0097542, GO:0031475, GO:0030286, GO:0016020, GO:0005929, GO:0005886, GO:0005874, GO:0005868, GO:0005829, GO:0005813, GO:0005634, glutamatergic synapse, glutamatergic synapse, postsynapse, postsynapse, 9+0 non-motile cilium, ciliary tip, myosin V complex, dynein complex, membrane, cilium, plasma membrane, microtubule, cytoplasmic dynein complex, cytosol, centrosome, nucleus, GO:0097110, GO:0051959, GO:0045505, GO:0044877, GO:0042802, GO:0005515, GO:0003774, scaffold protein binding, dynein light intermediate chain binding, dynein intermediate chain binding, protein-containing complex binding, identical protein binding, protein binding, motor activity, GO:2000582, GO:0060271, GO:0035735, GO:0019886, GO:0016236, GO:0006888, positive regulation of ATP-dependent microtubule motor activity, plus-end-directed, cilium assembly, intraciliary transport involved in cilium assembly, antigen processing and presentation of exogenous peptide antigen via MHC class II, macroautophagy, endoplasmic reticulum to Golgi vesicle-mediated transport, 702 692 892 500 618 740 519 506 625 ENSG00000264365 chr18 24364787 24367984 + AC023983.1 antisense 0 0 0 0 0 1 2 0 0 ENSG00000264370 chr2 12737367 12737444 + MIR3125 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422986 0 0 0 0 0 0 0 0 0 ENSG00000264371 chr1 25023503 25023586 + MIR4425 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616365 0 0 0 0 0 0 0 0 0 ENSG00000264373 chr17 32434939 32435028 - AC005899.2 processed_pseudogene 0 0 1 0 4 0 0 0 0 ENSG00000264377 chr1 234306467 234306539 + MIR4671 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616380 0 0 0 0 0 0 0 0 0 ENSG00000264379 chr9 21524307 21524382 - RF00157 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000264384 chr1 154166245 154166549 - RN7SL431P misc_RNA 12 14 8 51 130 102 81 73 66 ENSG00000264386 chr15 74788672 74788757 - MIR4513 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616183 15 10 16 3 17 17 9 9 6 ENSG00000264387 chr13 55174454 55174548 + MIR5007 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846996 0 0 0 0 0 0 0 0 0 ENSG00000264388 chr18 71588537 71588884 + AC090312.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264390 chr6 140683814 140683883 + MIR4465 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616180 0 0 0 0 0 0 0 0 0 ENSG00000264391 chr5 76836900 76837195 - RN7SL208P misc_RNA 3 0 0 0 0 3 1 1 1 ENSG00000264395 chr20 31607186 31607240 + MIR3193 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422904 0 0 0 0 0 0 0 0 0 ENSG00000264397 chr16 2135977 2136129 - MIR3180-5 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500916 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000264399 chr17 58335976 58336022 - MIR4736 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616220 0 0 0 0 0 0 0 0 0 ENSG00000264400 chr19 35414881 35415149 - RN7SL491P misc_RNA 0 0 3 0 0 0 0 0 0 ENSG00000264402 chr11 74399237 74399333 + MIR548AL miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616215 0 0 0 0 0 0 0 0 0 ENSG00000264404 chr10 47588681 47599830 - BX547991.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264405 chr12 69584722 69584823 - MIR3913-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500903 0 0 0 0 0 0 0 0 0 ENSG00000264406 chr15 85825635 85825730 + MIR548AP miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847084 0 0 0 0 0 0 0 0 0 ENSG00000264408 chr8 61714788 61714859 + MIR4470 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616484 0 0 0 0 0 0 0 0 0 ENSG00000264419 chr1 116560024 116560111 - MIR548AC miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616384 2 0 1 0 1 0 1 0 0 ENSG00000264421 chr17 67224303 67225541 + AC007448.2 antisense 1 0 0 0 1 0 0 0 0 ENSG00000264422 chr17 20576667 20578748 - AC015818.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264423 chr19 41190927 41191229 - RN7SL718P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264424 chr17 10443290 10469559 - MYH4 protein_coding 4622 GO:0032982, GO:0030017, GO:0030016, GO:0005859, myosin filament, sarcomere, myofibril, muscle myosin complex, GO:0051015, GO:0016887, GO:0005524, GO:0005516, GO:0003725, GO:0000146, actin filament binding, ATPase activity, ATP binding, calmodulin binding, double-stranded RNA binding, microfilament motor activity, GO:0046034, GO:0030049, GO:0030048, GO:0006936, ATP metabolic process, muscle filament sliding, actin filament-based movement, muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000264425 chr7 101159473 101159555 + MIR4653 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616117 0 0 0 0 0 0 0 0 0 ENSG00000264426 chr7 56955785 56955864 - MIR4283-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422917 0 0 0 0 0 0 0 0 0 ENSG00000264429 chr17 1022476 1022559 - MIR3183 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422835 0 0 0 0 0 0 0 0 0 ENSG00000264431 chr17 22693325 22694831 - AC131274.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264434 chr18 25302126 25302960 + AC110603.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264435 chr17 29972514 29973027 + AC104982.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264438 chr9 128709780 128710043 + RN7SL560P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264443 chr1 24538802 24556024 - AL445686.2 lincRNA 33 18 35 48 21 75 54 13 71 ENSG00000264444 chr18 68866517 68867028 + SDHCP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264448 chr8 93915734 93916682 - AC084346.2 lincRNA 0 0 0 0 0 0 3 1 0 ENSG00000264449 chr18 5887487 5909122 + AP005433.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264451 chr17 48460370 48466040 + AC036222.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264452 chr21 44439035 44439110 + RF00285 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000264456 chr17 30971652 30973312 + AC138207.4 sense_intronic 32 16 25 5 29 12 12 12 12 ENSG00000264458 chr17 32627739 32686484 + AC025211.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264462 chr21 8986999 8987178 + MIR3648-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504731 0 0 0 0 0 0 0 0 0 ENSG00000264464 chr18 49499390 49501860 + AC091170.1 lincRNA 101928144 0 0 0 0 0 0 0 0 0 ENSG00000264468 chr17 6655440 6655509 - MIR4520-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616401 0 0 1 0 4 0 0 0 2 ENSG00000264470 chr1 64579847 64579923 + MIR4794 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616338 0 0 0 0 0 0 0 0 0 ENSG00000264472 chr18 68899781 68902255 - AC096708.2 antisense 0 0 0 0 0 2 0 0 0 ENSG00000264474 chr7 4788565 4788639 - MIR4656 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616465 5 11 4 48 34 32 69 23 27 ENSG00000264475 chr18 7076817 7080123 + AP005062.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264477 chr3 121049640 121049715 + MIR5682 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847043 0 0 0 0 0 0 0 0 0 ENSG00000264480 chr15 98784426 98784502 + MIR4714 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616432 0 0 0 1 0 2 0 0 3 ENSG00000264482 chr13 102045934 102046004 - MIR4705 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616239 0 0 0 0 0 0 0 0 0 ENSG00000264483 chr1 227941590 227941683 - MIR5008 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847072 0 0 0 0 0 0 0 0 0 ENSG00000264484 chrX 154495815 154496113 - RN7SL697P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264486 chr17 28256438 28265551 + AC061975.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264488 chr17 40803744 40809296 + AC090283.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264490 chr20 62575590 62577507 + BX640514.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000264491 chr17 67019934 67021743 - AC005544.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264493 chr11 1859464 1859536 - MIR4298 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423021 7 4 6 8 11 2 5 4 0 ENSG00000264494 chr7 72697903 72697978 + MIR4650-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616331 0 0 0 0 0 0 0 0 0 ENSG00000264497 chr17 32024469 32024583 - AC090616.4 processed_pseudogene 0 0 0 0 0 1 7 0 0 ENSG00000264500 chr1 248826377 248826443 + MIR3124 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422879 2 2 2 0 5 0 0 3 5 ENSG00000264501 chr1 10306465 10306757 + RN7SL731P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264503 chr18 10622123 10622267 - AP001180.3 processed_pseudogene 1 0 2 0 0 0 0 0 0 ENSG00000264511 chr17 75406069 75406162 + MIR3678 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500841 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000264512 chr8 12719132 12719190 + MIR5692A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847038 0 0 0 0 0 0 0 0 0 ENSG00000264513 chr17 63117019 63130947 - AC006270.1 antisense 1 1 1 0 0 0 0 1 0 ENSG00000264514 chr18 316737 319165 + AP000915.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264515 chr19 29287011 29525752 - AC011474.1 processed_transcript 284395 0 0 0 0 0 0 0 0 0 ENSG00000264519 chr11 63797784 63798071 - RN7SL596P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264520 chr7 30525731 30533613 + AC005154.4 lincRNA 9 15 2 6 9 3 10 5 9 ENSG00000264522 chr1 149937812 150010676 - OTUD7B protein_coding 56957 GO:0005829, GO:0005737, GO:0005737, GO:0005634, GO:0005634, cytosol, cytoplasm, cytoplasm, nucleus, nucleus, GO:1990380, GO:1990380, GO:0070530, GO:0008270, GO:0008234, GO:0005515, GO:0004843, GO:0004843, GO:0004843, GO:0003677, Lys48-specific deubiquitinase activity, Lys48-specific deubiquitinase activity, K63-linked polyubiquitin modification-dependent protein binding, zinc ion binding, cysteine-type peptidase activity, protein binding, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, thiol-dependent ubiquitin-specific protease activity, DNA binding, GO:1900181, GO:0071947, GO:0071108, GO:0071108, GO:0071108, GO:0070536, GO:0070536, GO:0043124, GO:0043124, GO:0035871, GO:0035871, GO:0032717, GO:0016579, GO:0002385, GO:0002250, GO:0000122, negative regulation of protein localization to nucleus, protein deubiquitination involved in ubiquitin-dependent protein catabolic process, protein K48-linked deubiquitination, protein K48-linked deubiquitination, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein K63-linked deubiquitination, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of I-kappaB kinase/NF-kappaB signaling, protein K11-linked deubiquitination, protein K11-linked deubiquitination, negative regulation of interleukin-8 production, protein deubiquitination, mucosal immune response, adaptive immune response, negative regulation of transcription by RNA polymerase II, 6 10 27 24 12 29 20 7 29 ENSG00000264525 chr2 66358249 66358328 - MIR4778 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616464 0 0 0 0 0 0 0 0 0 ENSG00000264529 chr17 63182166 63182817 + AC006270.2 transcribed_processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000264530 chr9 6542094 6542353 + RN7SL25P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264534 chr3 10330229 10330285 + MIR378B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422933 0 0 0 0 0 0 0 0 0 ENSG00000264536 chr5 119154637 119154716 + MIR5706 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847085 0 0 0 0 0 0 0 0 0 ENSG00000264538 chr17 30709299 30790908 + SUZ12P1 transcribed_unprocessed_pseudogene 62 65 42 84 155 99 95 122 77 ENSG00000264539 chr13 114244505 114244561 + MIR548AR miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847035 0 0 0 0 0 0 0 0 0 ENSG00000264540 chr17 44883986 44884274 + RN7SL405P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264545 chr9 21802636 22032986 + AL359922.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000264546 chr17 62549726 62552121 + AC008026.3 sense_intronic 0 0 2 2 7 5 3 1 1 ENSG00000264548 chr17 82214227 82217352 + AC132872.2 antisense 5 12 18 56 32 116 46 25 62 ENSG00000264549 chr5 181243312 181243379 - SNORD95 snoRNA 619570 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000264553 chr1 150551929 150552014 + MIR4257 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422997 GO:1903561, extracellular vesicle, 15 8 10 18 25 16 15 19 5 ENSG00000264554 chr12 102217318 102217613 - RN7SL793P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264558 chr17 47682417 47682683 - AC015674.1 antisense 451 444 519 262 377 305 247 325 334 ENSG00000264559 chr11 59595077 59595158 - MIR3162 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422880 0 0 0 0 0 0 0 0 3 ENSG00000264562 chr17 22305671 22306013 - AC138761.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264563 chr5 129097688 129097766 + MIR4633 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616175 0 0 0 0 0 0 0 0 0 ENSG00000264564 chr18 54525434 54525563 + AC090897.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264566 chrX 20017088 20017187 - MIR23C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500809 0 0 0 0 0 0 0 0 0 ENSG00000264569 chr17 82037905 82039380 + AC137723.1 antisense 113523640 0 0 0 0 0 0 0 0 0 ENSG00000264570 chr18 14629832 14632806 - SNX19P3 processed_pseudogene 0 0 0 0 0 5 0 0 0 ENSG00000264571 chr18 55479221 55479298 + MIR4529 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616290 0 0 0 0 0 0 0 0 0 ENSG00000264572 chr10 125032783 125032870 - MIR4296 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423041 0 1 0 0 0 0 0 0 0 ENSG00000264573 chrX 41345576 41345876 - RN7SL15P misc_RNA 9 7 6 53 149 74 68 80 82 ENSG00000264574 chr10 23393405 23393467 + MIR1254-2 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000264575 chr18 5236724 5238598 - LINC00526 lincRNA 3 8 10 4 5 21 2 7 6 ENSG00000264577 chr17 28721487 28722877 - AC010761.1 antisense 408 242 662 1354 586 1445 923 530 1043 ENSG00000264578 chr8 41609692 41621502 - AC009630.3 antisense 112 72 182 82 41 125 58 27 87 ENSG00000264580 chr21 42950928 42951014 - MIR5692B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847013 0 0 0 0 0 1 0 0 0 ENSG00000264582 chr1 40804846 40805141 + RN7SL326P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264583 chr11 47400970 47401042 + MIR4487 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616222 0 0 0 0 0 0 0 0 0 ENSG00000264585 chr4 52712682 52712747 + MIR4449 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616436 0 0 0 0 0 0 0 2 0 ENSG00000264587 chr18 29518259 29548241 + AC117569.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264589 chr17 45799390 45895680 - MAPT-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264592 chr1 36191915 36192170 + RN7SL131P misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000264595 chr18 76227990 76233387 - AC103808.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264596 chr18 7814118 7815730 + AP000897.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000264598 chr17 33052107 33052867 - AC003687.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000264603 chr11 18387787 18387860 + MIR3159 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423016 0 0 0 0 0 0 0 0 0 ENSG00000264607 chr14 95137919 95137986 - MIR3173 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422981 GO:0005615, extracellular space, 6 4 2 0 4 6 1 1 6 ENSG00000264608 chr17 28601827 28602284 - AC005726.3 sense_intronic 12 4 10 10 14 5 15 13 12 ENSG00000264610 chr10 98431292 98431360 - MIR4685 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616482 0 1 2 3 4 0 9 2 0 ENSG00000264613 chr1 51995740 51996039 + RN7SL290P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264614 chr3 185253210 185253272 - MIR5588 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847054 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000264615 chr9 2228961 2229241 - RN7SL592P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264616 chr20 34049119 34049190 + MIR4755 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616434 0 1 0 2 2 2 0 0 0 ENSG00000264617 chr17 21655843 21657633 - AC233702.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264618 chrX 39786524 39786823 - RN7SL732P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264621 chr4 39411910 39411974 + MIR5591 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847065 0 0 0 0 0 0 0 0 0 ENSG00000264622 chr17 34837871 34859046 - AC022903.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264623 chr3 114743445 114743525 - MIR4796 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616166 0 0 0 0 0 0 0 1 0 ENSG00000264630 chr17 66398069 66416854 - PRKCA-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264633 chr3 49274120 49274186 + MIR4271 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422952 86 93 108 102 152 134 116 93 141 ENSG00000264634 chr18 67940949 67956426 + AC100844.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264635 chr18 738058 739662 - AP001020.2 sense_intronic 2 1 2 0 0 2 1 0 0 ENSG00000264638 chr9 18573306 18573379 + MIR3152 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422869 0 0 0 0 0 0 0 0 0 ENSG00000264643 chr17 33680577 33680883 + AC024614.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264644 chr18 9678248 9679493 - KRT18P8 processed_pseudogene 8 23 19 5 6 12 10 3 0 ENSG00000264647 chr17 29591703 29592241 - AC104564.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264653 chr8 130008334 130008453 - MIR5194 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847051 3 5 11 3 5 19 18 12 14 ENSG00000264655 chr17 40367952 40368438 + PPIAP54 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264657 chr14 27633205 27633278 - MIR3171 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422830 0 0 0 0 0 0 0 0 0 ENSG00000264658 chr4 7310450 7310524 + MIR4798 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616471 0 0 0 0 0 0 0 0 0 ENSG00000264659 chr17 74672712 74677600 - AC064805.2 antisense 5 6 12 0 2 1 8 4 2 ENSG00000264660 chr17 20963722 20980238 + AC107926.1 antisense 0 0 0 0 0 0 1 0 0 ENSG00000264661 chr22 30731557 30731641 + MIR3200 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422912 0 0 0 0 0 0 0 0 0 ENSG00000264662 chr17 20789217 20789595 - AC126365.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264663 chr17 39835037 39836080 - KRT8P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264666 chr17 17591428 17610485 + AC020558.1 antisense 1 0 1 1 4 2 3 1 4 ENSG00000264668 chr8 143247110 143276403 + AC138696.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000264672 chr17 58519837 58556977 + SEPT4-AS1 antisense 101927688 1 4 0 3 0 0 0 0 0 ENSG00000264673 chr17 16788248 16789234 - AC098850.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264675 chr7 102293103 102293187 + MIR4285 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422858 5 3 6 0 3 1 4 1 14 ENSG00000264676 chr2 236072295 236072556 + RN7SL204P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264678 chr4 152489327 152489416 - MIR3140 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422896 1 1 1 0 5 3 0 2 0 ENSG00000264684 chr2 151368334 151368411 + MIR4773-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616392 0 0 1 0 0 0 0 0 0 ENSG00000264685 chr18 66068750 66069647 - PRPF19P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264689 chr17 27682476 27682737 + AC015688.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264693 chr18 77622552 77624515 + AC123786.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264695 chr18 24489375 24491080 + AC007922.1 lincRNA 0 3 1 0 0 2 0 0 0 ENSG00000264697 chr18 68527970 68528123 + AC067819.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264698 chr1 37161563 37161634 + MIR4255 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422898 0 0 0 0 0 0 0 0 0 ENSG00000264699 chr18 68258339 68264827 - LINC01912 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264701 chr17 47980398 47996196 - AC018521.4 antisense 170 142 129 278 310 182 224 198 156 ENSG00000264703 chr19 54282109 54282180 + MIR4752 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616171 0 0 0 0 0 0 0 0 0 ENSG00000264705 chr18 69212277 69214350 + AC090337.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264706 chr3 49863375 49863660 - RN7SL217P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264707 chr18 6256747 6260934 + L3MBTL4-AS1 lincRNA 101927150 0 0 0 0 0 0 0 0 0 ENSG00000264712 chr14 50299855 50299946 - MIR4504 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616261 0 0 0 0 0 0 0 0 0 ENSG00000264714 chr18 10724619 10728539 + KIAA0895LP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264717 chr10 47918739 47923524 + NPY4R2 protein_coding 100996758 GO:0016021, GO:0016020, GO:0005887, GO:0005886, GO:0005886, integral component of membrane, membrane, integral component of plasma membrane, plasma membrane, plasma membrane, GO:0017046, GO:0004930, GO:0001602, GO:0001602, peptide hormone binding, G protein-coupled receptor activity, pancreatic polypeptide receptor activity, pancreatic polypeptide receptor activity, GO:0007218, GO:0007186, GO:0007186, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000264720 chr1 66628440 66628517 + MIR3117 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422871 0 0 0 0 0 0 0 0 0 ENSG00000264722 chr16 16306370 16306434 + MIR3670-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846994 0 0 0 0 0 0 0 0 0 ENSG00000264725 chr2 189133036 189133111 - MIR3129 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422908 0 0 0 0 0 0 0 0 0 ENSG00000264727 chr17 11288205 11290811 + AC005725.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264729 chr17 16804627 16805707 + AC022596.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264732 chr5 181222566 181222633 - MIR4638 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616342 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000264733 chr16 12720321 12720371 + MIR4718 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616195 1 1 0 3 11 3 4 2 2 ENSG00000264734 chr17 26989189 26999941 - AC069061.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264735 chr17 81965632 81966589 - AC145207.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264736 chr18 77435253 77437242 - BDP1P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264737 chr15 65719246 65719332 - MIR4511 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616379 0 0 0 0 0 0 0 0 0 ENSG00000264739 chr17 16414524 16416689 - AC093484.2 antisense 16 8 13 22 13 29 11 7 7 ENSG00000264741 chr14 73758747 73758819 + MIR4505 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616158 GO:1903561, GO:0070062, extracellular vesicle, extracellular exosome, 0 0 3 0 0 0 0 0 0 ENSG00000264743 chr17 30975387 30975954 + DPRXP4 processed_pseudogene 8 5 8 3 4 15 0 0 2 ENSG00000264744 chr9 134849298 134849369 - MIR3689C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616333 0 0 0 0 0 0 0 0 0 ENSG00000264745 chr18 23994213 24015339 - TTC39C-AS1 antisense 0 1 1 3 6 3 1 3 8 ENSG00000264747 chr10 57304479 57304559 - MIR3924 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500834 0 0 0 0 0 0 0 0 0 ENSG00000264750 chr17 73641026 73643106 + AC032019.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000264754 chr17 67524481 67525422 + AC110921.1 sense_intronic 0 0 0 0 1 0 2 0 0 ENSG00000264755 chr2 219058688 219058750 - MIR3131 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422957 0 0 0 0 0 0 0 0 0 ENSG00000264757 chr22 17764180 17764259 - MIR3198-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423025 4 6 14 2 8 49 7 4 27 ENSG00000264760 chr5 154596012 154596072 - MIR3141 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422950 0 0 0 0 0 0 0 0 0 ENSG00000264763 chr10 112634170 112634254 + MIR4295 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422909 0 0 0 0 0 0 0 0 0 ENSG00000264764 chr2 102432289 102432366 + MIR4772 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616157 13 9 3 2 12 0 8 0 3 ENSG00000264765 chr17 16653904 16654787 + AC098850.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264767 chr20 38098414 38098700 - RN7SL237P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264769 chr17 81922899 81924511 + AC145207.8 antisense 57 69 80 656 791 913 629 555 666 ENSG00000264772 chr17 7572826 7582024 + AC016876.2 processed_transcript 0 1 0 14 7 11 3 5 0 ENSG00000264773 chr1 30739156 30739232 - MIR4420 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616164 15 40 39 135 156 167 87 92 191 ENSG00000264775 chr18 5002759 5003254 - PPIAP14 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000264781 chr14 105859484 105859553 - MIR4537 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616422 0 0 0 0 0 0 0 0 0 ENSG00000264785 chr17 19737682 19738542 + AC005722.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264788 chr8 29957272 29957348 - MIR3148 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422876 0 0 0 0 0 0 0 0 0 ENSG00000264790 chr18 27343252 27346110 + AC021382.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264791 chr17 34142947 34147047 + AC004147.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264792 chr5 14825929 14826012 - MIR4637 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616271 0 0 0 0 0 0 0 0 0 ENSG00000264793 chr2 87194786 87194859 + MIR4771-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616370 0 0 0 0 0 0 0 0 0 ENSG00000264796 chr15 89883931 89884030 - MIR5009 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846993 0 0 0 0 0 0 0 0 0 ENSG00000264800 chr10 48985512 48985587 - MIR4294 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422895 0 0 0 0 0 0 1 0 0 ENSG00000264801 chr9 21929457 21931073 + ERVFRD-3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264802 chr1 201719508 201719627 + MIR5191 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847050 0 0 0 0 0 0 0 0 0 ENSG00000264803 chr10 130962588 130962668 - MIR378C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422867 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000264808 chr17 29369717 29390777 - AC068025.1 antisense 31 31 44 7 13 21 7 13 23 ENSG00000264809 chr1 178484408 178484682 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264810 chr2 239085827 239085926 - MIR4441 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616493 4 1 3 1 5 2 1 2 1 ENSG00000264811 chr17 22299134 22299467 - AC138761.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264812 chr17 82400703 82401382 - AC132938.2 sense_intronic 0 1 0 0 0 3 1 0 0 ENSG00000264813 chr17 63484823 63521848 + AC113554.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000264814 chr6 154853360 154853436 + MIR1273C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422821 0 0 0 0 0 0 0 0 0 ENSG00000264823 chr9 128244947 128245030 - MIR3154 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422893 0 0 0 0 0 0 0 0 0 ENSG00000264824 chr22 22886267 22886379 + MIR5571 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847006 0 0 0 0 0 0 0 0 0 ENSG00000264825 chr18 22213778 22228029 + AC091588.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264829 chr17 75679474 75679967 - AC087749.2 antisense 1 4 5 2 8 3 2 6 0 ENSG00000264833 chr2 119169822 119170115 + RN7SL468P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264834 chr1 52928674 52928772 + MIR1273F miRNA 0 0 0 0 1 0 0 0 0 ENSG00000264837 chr17 27057399 27058221 + VN1R71P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264840 chr17 64871504 64871784 - RN7SL404P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264843 chr18 10704297 10709599 + AP001180.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264845 chr18 69469517 69471736 + AC119868.1 transcribed_processed_pseudogene 105372179 0 0 0 0 0 0 0 0 0 ENSG00000264850 chr15 41866495 41866551 - MIR4310 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423013 0 0 0 0 0 0 0 0 0 ENSG00000264853 chr17 75370947 75373736 - AC011933.2 sense_intronic 11 13 16 16 15 33 10 13 18 ENSG00000264857 chr2 101309450 101309534 + MIR5696 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847007 1 1 0 3 3 11 6 4 0 ENSG00000264859 chr18 31542146 31556911 - DSG2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264860 chr17 73164977 73196593 + AC097641.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000264862 chr17 31518432 31518729 + RN7SL45P misc_RNA 0 0 5 0 0 4 0 2 0 ENSG00000264864 chr13 49996415 49996501 - MIR3613 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500908 9 5 10 0 7 4 3 4 0 ENSG00000264869 chr18 68102116 68114377 + AC068112.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264874 chr17 20710425 20710533 - AC087499.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264876 chr18 10323132 10372380 - AP005209.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264879 chr20 20316755 20316994 + RN7SL690P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264880 chr18 15159724 15164467 - AP005901.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264881 chr1 10227718 10227803 + MIR1273D miRNA 1 0 0 0 0 0 0 0 0 ENSG00000264885 chr17 18667629 18669461 - AC026271.3 sense_intronic 2 4 3 7 2 6 2 0 0 ENSG00000264892 chr17 16812447 16812651 + NOS2P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264895 chr17 51249579 51251748 - AC006141.1 sense_intronic 2 4 2 1 2 0 2 3 4 ENSG00000264897 chr3 99964314 99964398 - MIR3921 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500859 0 0 0 0 0 0 0 0 0 ENSG00000264901 chr20 47166967 47167058 + MIR3616 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500814 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000264902 chr15 21951242 21951323 + MIR5701-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504741 0 0 0 0 0 0 0 0 0 ENSG00000264906 chr12 47364186 47364269 - MIR4494 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616478 0 0 0 0 0 0 0 0 0 ENSG00000264907 chr17 62841101 62841645 + PRELID3BP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264910 chr19 58543299 58543578 - RN7SL525P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264911 chr18 26348347 26349004 + AC022069.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264914 chr17 57912333 57922581 + AC015845.1 antisense 0 4 0 6 1 0 2 3 0 ENSG00000264916 chr1 179900262 179900564 + RN7SL230P misc_RNA 0 2 0 0 1 0 0 0 2 ENSG00000264920 chr17 47891255 47895812 - AC018521.5 processed_transcript 102724532 9 6 10 6 2 5 2 4 5 ENSG00000264922 chr9 36864254 36864308 - MIR4540 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616278 0 0 0 0 0 0 0 0 0 ENSG00000264924 chr18 24113637 24121003 - AC090772.1 antisense 0 0 3 11 1 8 1 0 5 ENSG00000264926 chr1 23929070 23929147 + MIR378F miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616492 0 0 0 0 0 0 0 0 0 ENSG00000264930 chr17 22606388 22606703 + AC131055.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264931 chr4 10078611 10078692 - MIR3138 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423011 0 1 2 20 13 26 23 10 6 ENSG00000264932 chr17 19649373 19649935 - AC115989.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264933 chrX 123811331 123811587 - RN7SL190P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264934 chr2 109141490 109141588 - MIR4265 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422863 0 0 0 0 0 0 0 0 0 ENSG00000264937 chr15 64696622 64696861 + AC100830.2 antisense 90 101 116 42 44 31 22 22 21 ENSG00000264940 chr17 19189665 19190245 - SNORD3C snoRNA 0 0 1 0 3 1 0 0 0 ENSG00000264941 chr9 20502265 20502342 - MIR4474 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616441 0 0 0 0 0 0 0 0 0 ENSG00000264943 chr17 30624413 30625494 + SH3GL1P2 processed_pseudogene 0 0 2 1 4 0 4 2 0 ENSG00000264947 chr16 50742305 50742377 + MIR3181 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422972 3 8 7 1 5 5 9 5 1 ENSG00000264954 chr17 63996071 63999899 - PRR29-AS1 lincRNA 400612 0 2 4 3 1 0 0 1 0 ENSG00000264956 chr17 22266425 22288133 + AC138761.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264958 chr17 30529688 30542416 + ALOX12P1 unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000264961 chr17 80419418 80419493 + MIR4730 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616359 0 1 0 0 0 0 0 0 0 ENSG00000264963 chr1 94150738 94151080 + RN7SL440P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000264964 chr18 9315194 9334441 - AP001033.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264966 chr15 89850637 89850721 - MIR5094 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847059 0 0 2 0 0 4 0 0 0 ENSG00000264968 chr17 39927742 39939601 + AC090844.2 lincRNA 1 0 0 0 0 0 2 0 0 ENSG00000264970 chr17 22671433 22706703 + AC131274.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264971 chr18 49469803 49470223 + PRR13P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264974 chr3 175369540 175369621 + MIR4789 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616395 0 0 0 0 0 0 0 0 0 ENSG00000264975 chr2 52702522 52702615 - MIR4431 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616431 0 0 0 0 0 0 0 0 0 ENSG00000264978 chr12 93831076 93831372 + RN7SL630P misc_RNA 0 0 0 0 0 2 0 0 0 ENSG00000264979 chr2 110086433 110086523 - MIR4436B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616123 0 0 0 0 0 0 0 0 0 ENSG00000264981 chr17 20542974 20544123 - AC015818.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000264982 chr18 32287437 32290340 + AC015563.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000264984 chr11 9090312 9090379 - MIR5691 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847015 0 0 0 0 0 0 0 0 0 ENSG00000264985 chr17 73513469 73521407 + AC124804.1 antisense 101928251 0 0 0 0 0 0 0 0 0 ENSG00000264986 chr3 125151465 125151552 - MIR5092 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847039 0 0 0 0 0 0 0 0 0 ENSG00000264990 chr17 34176538 34178166 + AC005549.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000264994 chr2 28913664 28913748 + SNORD92 snoRNA 692209 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000264997 chr11 109263494 109263564 - RF00157 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000264999 chr17 46973017 46973100 + MIR5089 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847067 0 0 0 0 0 0 0 0 0 ENSG00000265000 chr17 62808500 62836371 + AC068512.1 lincRNA 101927877 0 0 0 0 0 0 0 0 0 ENSG00000265003 chr2 88082519 88082599 - MIR4780 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616447 0 0 0 0 0 0 0 0 0 ENSG00000265005 chr16 26025237 26025310 + MIR548W miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422923 0 0 0 0 0 0 0 0 0 ENSG00000265007 chr21 30375294 30375378 - MIR4327 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422891 0 0 0 0 0 0 0 0 0 ENSG00000265008 chr18 32091295 32092119 - AC011825.4 antisense 40 41 45 18 8 32 19 22 34 ENSG00000265010 chr17 73243093 73244706 + AC087301.1 sense_intronic 0 0 0 6 0 0 0 0 1 ENSG00000265014 chr11 46451805 46451889 - MIR3160-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422827 0 0 0 0 0 0 0 0 0 ENSG00000265015 chr18 15196999 15197775 - AP005901.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265018 chr10 48009873 48031640 - AGAP12P transcribed_unprocessed_pseudogene 414224 0 2 0 2 1 0 0 1 0 ENSG00000265019 chr17 22061961 22070538 - NCOR1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265028 chr3 24521362 24521435 - MIR4792 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000265031 chr17 64425069 64425170 - MIR1273E miRNA 0 0 0 0 0 0 0 0 0 ENSG00000265033 chrX 49152651 49152944 + RN7SL262P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265038 chr18 10636670 10637399 + PMM2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265041 chr17 27666749 27672803 - AC015688.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265043 chr17 21456513 21460215 - AC068418.2 lincRNA 0 0 0 2 0 0 0 0 5 ENSG00000265046 chr17 31830731 31831750 + AC004253.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265052 chr17 67977698 67977972 + RN7SL622P misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000265055 chr17 68096046 68101474 - AC145343.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265056 chr2 11767444 11767525 + MIR548S miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422862 0 0 0 0 0 0 0 0 0 ENSG00000265057 chr2 32635255 32635331 + MIR4765 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616219 0 0 0 0 0 0 0 0 0 ENSG00000265060 chr17 28247444 28248289 + PPY2P transcribed_unprocessed_pseudogene 23614 0 0 0 0 0 0 0 0 0 ENSG00000265061 chr12 128244506 128244573 + MIR4419B miRNA 0 0 0 0 0 0 0 0 0 ENSG00000265064 chr11 72783530 72783592 + MIR4692 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616410 0 0 1 0 1 2 6 2 0 ENSG00000265069 chr18 6954677 6957419 + AP002409.1 antisense 101927188 0 0 0 0 0 0 0 0 0 ENSG00000265073 chr17 28732963 28743102 - AC010761.2 antisense 4 9 4 3 7 3 4 5 1 ENSG00000265075 chr8 27701673 27701767 - MIR3622B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500871 0 0 0 0 0 0 0 0 0 ENSG00000265078 chr3 48094801 48095105 - RN7SL664P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265083 chr6 5148233 5148322 - MIR3691 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500900 0 0 0 0 0 0 0 0 0 ENSG00000265089 chr7 1844180 1844253 - MIR4655 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616160 0 0 1 0 0 0 0 0 0 ENSG00000265091 chr18 5232876 5238526 - AP001496.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265092 chr10 125819740 125819822 + MIR4484 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616327 GO:1903561, GO:0070062, extracellular vesicle, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000265093 chr12 45874035 45874330 + RN7SL246P misc_RNA 2 5 0 1 0 0 0 0 5 ENSG00000265094 chr18 24435364 24439638 + AC007922.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000265095 chr17 16391434 16391882 + FTLP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265096 chr17 79019209 79027655 - C1QTNF1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265097 chr18 27418884 27420435 - RBM22P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265098 chr15 35926856 35926923 + MIR4510 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616293 0 0 0 0 0 0 0 0 0 ENSG00000265099 chr17 20938023 20938344 - AC090774.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265100 chr17 68246629 68247938 - AC005332.1 antisense 0 0 4 2 3 9 8 3 0 ENSG00000265101 chr18 78925064 78927441 - AC091027.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265102 chr15 35372256 35372364 - MIR3942 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500904 0 0 0 0 0 0 0 0 0 ENSG00000265107 chr1 147756199 147773362 - GJA5 protein_coding This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]. 2702 GO:0042995, GO:0014704, GO:0014704, GO:0005922, GO:0005922, GO:0005922, GO:0005921, GO:0005887, cell projection, intercalated disc, intercalated disc, connexin complex, connexin complex, connexin complex, gap junction, integral component of plasma membrane, GO:0097718, GO:0086079, GO:0086078, GO:0086077, GO:0086076, GO:0086076, GO:0086075, GO:0086075, GO:0086020, GO:0071253, GO:0055077, GO:0005515, GO:0005243, disordered domain specific binding, gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling, gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling, gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling, gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling, gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling, gap junction channel activity involved in cardiac conduction electrical coupling, gap junction channel activity involved in cardiac conduction electrical coupling, gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling, connexin binding, gap junction hemi-channel activity, protein binding, gap junction channel activity, GO:1990029, GO:1900825, GO:1900133, GO:0098910, GO:0098906, GO:0098905, GO:0098904, GO:0097755, GO:0086091, GO:0086064, GO:0086055, GO:0086054, GO:0086053, GO:0086044, GO:0086044, GO:0086021, GO:0086015, GO:0086005, GO:0060413, GO:0060412, GO:0060373, GO:0060371, GO:0060307, GO:0055117, GO:0055085, GO:0048844, GO:0045907, GO:0045776, GO:0035922, GO:0035050, GO:0030326, GO:0016264, GO:0016264, GO:0010652, GO:0010649, GO:0010643, GO:0007267, GO:0006813, GO:0003294, GO:0003284, GO:0003283, GO:0003281, GO:0003193, GO:0003174, GO:0003161, GO:0003158, GO:0003151, GO:0003105, GO:0001525, GO:0001501, vasomotion, regulation of membrane depolarization during cardiac muscle cell action potential, regulation of renin secretion into blood stream, regulation of atrial cardiac muscle cell action potential, regulation of Purkinje myocyte action potential, regulation of bundle of His cell action potential, regulation of AV node cell action potential, positive regulation of blood vessel diameter, regulation of heart rate by cardiac conduction, cell communication by electrical coupling involved in cardiac conduction, Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling, bundle of His cell to Purkinje myocyte communication by electrical coupling, AV node cell to bundle of His cell communication by electrical coupling, atrial cardiac muscle cell to AV node cell communication by electrical coupling, atrial cardiac muscle cell to AV node cell communication by electrical coupling, SA node cell to atrial cardiac muscle cell communication by electrical coupling, SA node cell action potential, ventricular cardiac muscle cell action potential, atrial septum morphogenesis, ventricular septum morphogenesis, regulation of ventricular cardiac muscle cell membrane depolarization, regulation of atrial cardiac muscle cell membrane depolarization, regulation of ventricular cardiac muscle cell membrane repolarization, regulation of cardiac muscle contraction, transmembrane transport, artery morphogenesis, positive regulation of vasoconstriction, negative regulation of blood pressure, foramen ovale closure, embryonic heart tube development, embryonic limb morphogenesis, gap junction assembly, gap junction assembly, positive regulation of cell communication by chemical coupling, regulation of cell communication by electrical coupling, cell communication by chemical coupling, cell-cell signaling, potassium ion transport, atrial ventricular junction remodeling, septum primum development, atrial septum development, ventricular septum development, pulmonary valve formation, mitral valve development, cardiac conduction system development, endothelium development, outflow tract morphogenesis, negative regulation of glomerular filtration, angiogenesis, skeletal system development, 0 0 0 0 0 0 0 0 0 ENSG00000265110 chr17 15251627 15251696 - MIR4731 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616125 0 0 0 0 0 0 0 0 0 ENSG00000265112 chr9 89312225 89312306 + MIR3153 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422936 0 1 0 254 500 218 161 178 102 ENSG00000265113 chr16 69240549 69241929 + AC026474.1 sense_intronic 0 0 0 3 1 0 0 0 5 ENSG00000265115 chr17 33627027 33635057 + AC011824.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265118 chr17 31305213 31318831 - AC134669.1 protein_coding 9 17 17 2 7 0 0 6 0 ENSG00000265121 chr17 77264180 77264776 - AC068594.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265123 chr6 34685355 34685642 - RN7SL200P misc_RNA 2 0 0 4 7 0 13 1 3 ENSG00000265125 chr17 33565764 33624122 + AC011824.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265126 chr17 19411786 19413118 - AC004448.3 antisense 0 1 1 5 5 0 0 5 0 ENSG00000265128 chr18 49116301 49126479 + AC016866.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265134 chr19 47226942 47227021 + MIR3190 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422899 1 10 17 7 22 8 3 10 5 ENSG00000265135 chr5 55508850 55508926 - MIR5687 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847019 0 0 0 0 0 0 0 0 0 ENSG00000265136 chr17 82576616 82577391 - AC124283.4 processed_pseudogene 2 7 1 0 6 1 1 2 2 ENSG00000265137 chr20 18470615 18470691 + MIR3192 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422875 1 0 0 1 0 0 0 0 0 ENSG00000265139 chr17 32328441 32329395 + AC005899.3 lincRNA 0 0 6 0 0 0 0 0 0 ENSG00000265140 chr11 113450023 113450088 - MIR4301 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422855 0 0 0 0 0 0 0 0 0 ENSG00000265141 chr1 8979576 8979874 - RN7SL451P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265142 chr18 21825487 21831410 - MIR133A1HG antisense 102723167 GO:0035195, gene silencing by miRNA, 0 3 0 0 0 0 1 0 0 ENSG00000265144 chrX 16627012 16627085 - MIR548AM miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616428 0 0 0 0 0 0 1 0 0 ENSG00000265145 chr2 28927067 28927144 + SNORD53 snoRNA 26796 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 1 0 0 0 0 0 ENSG00000265148 chr17 58325450 58415766 + TSPOAP1-AS1 antisense 100506779 666 536 748 336 473 495 378 441 434 ENSG00000265154 chr14 100109419 100109514 - MIR151B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616247 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, 1 1 0 0 0 3 0 0 1 ENSG00000265158 chr18 31724198 31726956 + LRRC37A7P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265160 chr5 172662165 172662263 + MIR5003 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847029 0 0 0 0 0 0 0 0 0 ENSG00000265163 chr17 15105237 15106187 - CDRT8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265164 chr13 101967642 101967746 - MIR2681 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616110 0 0 0 0 0 0 0 0 0 ENSG00000265165 chr14 26908642 26908725 + MIR4307 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423019 0 0 0 0 0 0 0 0 0 ENSG00000265168 chr17 28573117 28574243 + AC005726.4 antisense 24 30 21 25 16 10 18 17 10 ENSG00000265170 chrX 153403844 153404141 - RN7SL667P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265172 chr2 11836933 11836986 - MIR4262 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422996 0 0 0 0 0 0 0 0 0 ENSG00000265174 chr18 6557822 6558654 + AP005202.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000265176 chrX 153981097 153981177 + MIR3202-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422987 0 0 0 0 0 0 0 0 0 ENSG00000265178 chr17 39726495 39726561 + MIR4728 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616132 0 0 0 0 0 0 0 0 0 ENSG00000265179 chr18 902766 906667 - AP000894.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000265180 chr3 5250177 5250255 - MIR4790 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616334 0 0 0 0 0 0 0 0 0 ENSG00000265181 chr9 136546173 136546259 - MIR4674 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616301 8 2 0 0 2 0 0 5 2 ENSG00000265182 chr18 49495147 49496896 - SRP72P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265185 chr17 19061912 19062669 + SNORD3B-1 snoRNA 0 0 0 5 7 13 3 6 7 ENSG00000265188 chr18 5240255 5241167 - AP001496.3 processed_pseudogene 8 4 5 6 1 3 4 8 13 ENSG00000265190 chr10 47460162 47484158 - ANXA8 protein_coding This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008]. 653145 GO:0062023, GO:0031902, GO:0005886, GO:0005829, GO:0005737, collagen-containing extracellular matrix, late endosome membrane, plasma membrane, cytosol, cytoplasm, GO:0051015, GO:0043325, GO:0005547, GO:0005546, GO:0005544, GO:0005515, GO:0005509, GO:0005509, actin filament binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-4,5-bisphosphate binding, calcium-dependent phospholipid binding, protein binding, calcium ion binding, calcium ion binding, GO:1900138, GO:1900138, GO:1900004, GO:1900004, GO:0016197, GO:0016197, GO:0007596, GO:0007032, GO:0007032, negative regulation of phospholipase A2 activity, negative regulation of phospholipase A2 activity, negative regulation of serine-type endopeptidase activity, negative regulation of serine-type endopeptidase activity, endosomal transport, endosomal transport, blood coagulation, endosome organization, endosome organization, 0 0 0 0 0 0 0 0 0 ENSG00000265193 chr3 79507887 79507969 + MIR3923 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500877 0 0 0 0 0 0 0 0 0 ENSG00000265194 chr9 21858910 21861926 - AL359922.2 antisense 1 0 2 19 0 23 17 9 11 ENSG00000265195 chr15 68801850 68801925 - MIR4312 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422971 4 10 6 4 8 9 7 7 4 ENSG00000265201 chr1 243346176 243346255 + MIR4677 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616343 0 0 0 0 0 0 0 0 0 ENSG00000265203 chr10 47348371 47357875 + RBP3 protein_coding Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]. 5949 GO:1903561, GO:0090658, GO:0005615, GO:0005576, extracellular vesicle, cone matrix sheath, extracellular space, extracellular region, GO:0019841, GO:0016918, GO:0008236, GO:0005515, GO:0005501, retinol binding, retinal binding, serine-type peptidase activity, protein binding, retinoid binding, GO:0007601, GO:0006629, GO:0006508, GO:0001523, visual perception, lipid metabolic process, proteolysis, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000265204 chr18 24076794 24099320 - AC090772.2 antisense 0 0 1 0 0 0 3 0 0 ENSG00000265205 chr17 28670054 28672804 - AC010761.3 antisense 71 112 85 32 61 46 38 40 29 ENSG00000265206 chr17 58330884 58332508 - AC004687.1 antisense 496 506 817 477 462 664 408 228 497 ENSG00000265210 chr11 19575310 19575372 + MIR4486 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616118 0 0 0 0 0 0 0 0 0 ENSG00000265213 chr4 98997387 98997460 + MIR3684 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500867 0 0 0 0 0 0 0 0 0 ENSG00000265214 chr7 63621090 63621169 + MIR4283-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422848 0 0 0 0 0 0 0 0 0 ENSG00000265215 chr2 239305462 239305545 + MIR4269 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423043 0 0 0 0 0 0 0 0 0 ENSG00000265217 chr18 65606090 65652053 + AC090358.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265218 chr17 64892729 64910180 + AC103810.2 antisense 1 1 0 0 0 0 3 0 1 ENSG00000265222 chr17 32509954 32523424 - AC079336.2 sense_intronic 0 0 0 0 0 0 0 1 0 ENSG00000265226 chr6 99124609 99124696 + MIR548AI miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616347 0 0 0 0 0 0 0 0 0 ENSG00000265227 chr12 81158388 81158461 + MIR4699 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616133 0 0 0 0 0 0 0 0 0 ENSG00000265233 chr17 22056587 22056755 - ABBA01006766.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265236 chr6 31541101 31541178 - SNORD84 snoRNA 692199 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000265237 chr5 160474402 160474483 + MIR3142 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422938 0 0 0 0 0 0 0 0 0 ENSG00000265240 chr18 67830671 67831967 - AC114689.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000265241 chr1 145917714 145927678 - RBM8A protein_coding This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]. 9939 GO:0071013, GO:0071006, GO:0043025, GO:0035145, GO:0035145, GO:0030425, GO:0016607, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, catalytic step 2 spliceosome, U2-type catalytic step 1 spliceosome, neuronal cell body, exon-exon junction complex, exon-exon junction complex, dendrite, nuclear speck, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003729, GO:0003729, GO:0003723, GO:0003723, protein binding, mRNA binding, mRNA binding, RNA binding, RNA binding, GO:0031124, GO:0006417, GO:0006406, GO:0006405, GO:0000398, GO:0000398, GO:0000398, GO:0000381, GO:0000381, GO:0000184, GO:0000184, GO:0000184, mRNA 3'-end processing, regulation of translation, mRNA export from nucleus, RNA export from nucleus, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, regulation of alternative mRNA splicing, via spliceosome, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 1210 1189 1241 1099 1262 1170 965 883 915 ENSG00000265243 chr18 3394889 3395312 + IGLJCOR18 IG_C_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265246 chr17 27237859 27241661 - AC129926.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265247 chr8 142176339 142176418 + MIR4472-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616268 0 0 0 0 0 0 0 0 0 ENSG00000265251 chr8 28505116 28505182 - MIR4288 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422903 0 0 0 0 0 0 0 0 0 ENSG00000265252 chr2 219549073 219549147 - MIR3132 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423039 0 0 0 0 0 0 0 0 0 ENSG00000265253 chr3 113594876 113594942 + MIR4446 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616476 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000265254 chr17 28405240 28406796 + AC015917.2 antisense 0 0 0 0 0 6 5 1 0 ENSG00000265257 chr18 9102736 9254346 + AP005263.1 processed_transcript 0 0 0 0 0 2 0 0 0 ENSG00000265258 chr11 2173063 2173138 + MIR4686 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616126 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000265260 chrX 97341046 97341344 + RN7SL74P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265261 chr18 76884935 76888724 - AC027575.1 processed_pseudogene 0 1 0 0 0 0 0 1 0 ENSG00000265262 chr17 62950831 62951188 - TRMT112P3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265263 chr17 19334308 19336127 - AC124066.1 antisense 34 84 90 9 71 42 22 47 47 ENSG00000265265 chr17 21519514 21521269 + AC233702.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265272 chr19 58490797 58491075 + RN7SL693P misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000265273 chr18 31962178 31963618 + PGDP1 processed_pseudogene 0 0 0 2 2 0 0 0 0 ENSG00000265279 chr18 32196026 32196966 - CLUHP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265281 chr16 56245520 56245623 + MIR3935 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500891 0 0 0 0 0 0 0 0 0 ENSG00000265282 chr17 63430468 63432211 - AC005828.4 lincRNA 2 0 1 0 2 0 0 0 0 ENSG00000265284 chrX 6383906 6383963 - MIR4770 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616373 0 0 0 0 0 0 0 0 0 ENSG00000265287 chr17 28607963 28609730 + AC005726.5 antisense 26 22 40 26 57 69 53 35 63 ENSG00000265289 chr17 30059339 30065677 - AC104996.1 antisense 0 1 0 0 2 1 2 0 2 ENSG00000265291 chr14 104677694 104677749 - MIR4710 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616300 0 0 0 0 0 0 0 0 0 ENSG00000265293 chr17 32150433 32151504 - ARGFXP2 processed_pseudogene 7 15 12 10 6 15 6 7 8 ENSG00000265296 chr18 14391913 14393909 - FEM1AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265298 chr17 64750420 64751311 + AC132812.1 unprocessed_pseudogene 165 194 185 297 376 392 275 230 267 ENSG00000265301 chr2 35471405 35471486 + MIR548AD miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616475 0 0 0 0 0 0 0 0 0 ENSG00000265303 chr17 59197566 59215226 + AC099850.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000265304 chr5 38557502 38557561 - MIR3650 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500824 0 0 0 0 0 0 0 0 0 ENSG00000265306 chr20 62064802 62064885 + MIR3195 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422838 4 2 1 0 0 0 0 1 0 ENSG00000265313 chr17 59430670 59526946 - LINC01476 lincRNA 1 0 0 1 0 0 1 0 3 ENSG00000265315 chr17 46537534 46537814 + RN7SL199P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265316 chr18 5463627 5480975 + AP005059.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000265319 chr10 33034655 33034924 - RN7SL847P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265321 chr2 27996367 27996449 + MIR4263 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422965 0 2 0 0 1 0 0 3 0 ENSG00000265322 chr15 20832795 20832869 + MIR3118-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422949 0 0 0 0 0 0 0 0 0 ENSG00000265327 chr3 40209005 40209304 + RN7SL411P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265328 chr3 103524033 103524116 - MIR548AB miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616336 0 0 0 0 0 0 0 0 0 ENSG00000265331 chr17 69099542 69099656 + MIR4524B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847008 0 0 0 0 0 0 0 0 0 ENSG00000265333 chr3 195134506 195134580 - MIR3137 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422926 0 0 0 0 0 0 0 1 0 ENSG00000265334 chr17 30834325 30863028 - AC130324.2 antisense 1 1 0 2 1 8 4 0 3 ENSG00000265337 chr17 32529008 32530049 - AC079336.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000265340 chr18 14570844 14571788 + OR4K7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265342 chr17 75394123 75394963 + AC011933.3 antisense 2 3 5 7 1 2 3 5 3 ENSG00000265345 chr12 124915547 124915659 + MIR5188 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847004 3 0 0 3 0 10 2 1 7 ENSG00000265347 chr9 93819357 93819421 + MIR4291 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422927 0 0 0 0 0 0 0 0 0 ENSG00000265349 chr17 9638768 9645325 - AC118755.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000265352 chr18 71732615 71788128 - LINC01899 lincRNA 102724913 0 0 0 0 0 0 0 0 0 ENSG00000265354 chr10 45972449 46003734 + TIMM23 protein_coding The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]. 100287932 GO:0031305, GO:0031305, GO:0005758, GO:0005744, GO:0005744, GO:0005743, GO:0005743, GO:0005739, integral component of mitochondrial inner membrane, integral component of mitochondrial inner membrane, mitochondrial intermembrane space, TIM23 mitochondrial import inner membrane translocase complex, TIM23 mitochondrial import inner membrane translocase complex, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, GO:0015450, GO:0008320, GO:0005515, P-P-bond-hydrolysis-driven protein transmembrane transporter activity, protein transmembrane transporter activity, protein binding, GO:0030150, GO:0006626, protein import into mitochondrial matrix, protein targeting to mitochondrion, 46 50 54 37 50 46 36 50 27 ENSG00000265355 chr3 69048958 69049035 - MIR3136 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422859 3 2 4 2 1 0 1 5 1 ENSG00000265356 chr17 33935437 34156000 - AC004147.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000265357 chr11 123381440 123381512 - MIR4493 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616319 0 0 0 0 0 0 0 0 0 ENSG00000265359 chr17 40850800 40863282 + AC004231.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265366 chr10 46759019 46786770 - GLUD1P2 transcribed_unprocessed_pseudogene 414212 0 0 0 1 0 2 0 0 0 ENSG00000265368 chr9 36893462 36893531 - MIR4476 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616456 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000265369 chr18 26687621 26703638 - PCAT18 lincRNA 728606 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 2 0 2 0 0 0 0 0 ENSG00000265370 chr10 119958513 119958592 + MIR4682 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616322 0 0 0 0 0 0 0 0 0 ENSG00000265372 chr10 20551970 20552046 + MIR4675 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616383 0 0 0 0 0 0 0 0 0 ENSG00000265373 chr16 16309879 16309966 + MIR3180-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422956 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000265374 chr18 27225742 27247188 + LINC01908 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265375 chr10 89063335 89063411 - MIR4679-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616192 0 0 0 2 0 0 0 0 0 ENSG00000265376 chr3 31161704 31161787 - MIR466 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423038 0 0 0 0 0 0 0 0 0 ENSG00000265378 chr18 78505165 78506410 + AC012572.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265380 chr18 73711329 73715490 - AC079070.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265386 chr16 2013181 2013476 + RN7SL219P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265388 chr12 6344554 6344837 + RN7SL391P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265390 chr19 8389290 8389380 - MIR4999 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847049 0 0 0 0 0 0 4 0 0 ENSG00000265392 chr1 6429834 6429896 - MIR4252 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422975 0 0 0 0 0 0 0 0 0 ENSG00000265393 chr8 144512567 144513672 + AC084125.4 antisense 0 0 1 4 1 0 2 0 0 ENSG00000265394 chr17 30090366 30117497 - AC104984.2 antisense 0 0 1 4 8 13 4 1 1 ENSG00000265395 chr10 133371556 133371663 - MIR3944 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500911 0 0 0 0 0 0 0 0 0 ENSG00000265396 chr2 177255945 177256010 - MIR3128 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422824 0 0 0 0 12 15 6 12 25 ENSG00000265399 chr18 3190397 3247277 + AP005329.2 antisense 28 19 21 13 1 20 11 8 12 ENSG00000265400 chr17 12201600 12215267 + AC005244.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000265401 chr17 16382152 16382669 - AC093484.3 antisense 944 1018 1409 3547 6743 3927 1891 3051 2910 ENSG00000265402 chr18 51612639 51613110 - RSL24D1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265407 chr19 49308797 49308868 - MIR4324 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422979 GO:1903561, extracellular vesicle, 1 0 0 3 0 0 0 0 0 ENSG00000265408 chr16 66942712 66963256 + AC009084.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000265411 chr17 46319679 46319959 + RN7SL656P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265413 chr18 8402847 8405161 + AP001094.2 sense_intronic 0 1 0 0 0 0 0 0 0 ENSG00000265415 chr17 59202677 59203829 - AC099850.3 antisense 2 4 4 0 3 0 0 0 2 ENSG00000265417 chr18 1362445 1363873 - AP005119.2 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000265418 chr2 10192614 10192671 - MIR4261 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422929 0 0 0 0 0 0 0 0 0 ENSG00000265420 chr2 86193026 86193108 - MIR4779 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616159 0 0 0 0 0 0 0 0 0 ENSG00000265421 chr5 54075518 54075583 - MIR4459 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000265422 chr1 22719517 22719598 + MIR4684 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616391 0 0 0 0 0 0 0 0 0 ENSG00000265423 chr7 93716928 93717005 + MIR4652 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616206 0 0 0 0 0 0 0 0 0 ENSG00000265425 chr18 68427030 68436918 + AC005909.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265428 chr17 38996323 38996624 - AC006441.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265429 chr2 113721290 113721368 - MIR4782 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616208 5 1 1 2 5 0 0 1 5 ENSG00000265432 chr14 54878113 54878193 - MIR4308 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422984 0 0 0 0 0 0 0 0 0 ENSG00000265433 chr3 116850277 116850367 - MIR4447 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616485 0 0 0 0 0 0 0 0 0 ENSG00000265435 chr1 180438314 180438390 - MIR3121 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423032 0 0 0 0 0 0 0 0 0 ENSG00000265437 chr18 14361434 14361943 - AP005212.1 processed_pseudogene 1 0 1 0 0 1 0 0 0 ENSG00000265439 chr6 44209766 44210063 + RN7SL811P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265442 chr10 122416965 122417067 + MIR3941 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500866 0 0 0 0 0 0 0 0 0 ENSG00000265443 chr17 30726305 30727564 - AC127024.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265444 chr17 31094350 31094425 - MIR4733 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616266 0 0 0 0 0 0 0 0 0 ENSG00000265445 chr17 15261015 15265707 + AC005703.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265450 chr13 114273828 114273908 + MIR4502 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616227 0 0 0 0 0 0 0 0 0 ENSG00000265451 chr2 121530422 121532705 + AC012447.1 antisense 2 0 5 1 3 1 1 6 3 ENSG00000265452 chr2 53849122 53849205 - MIR3682 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500850 0 0 3 6 5 9 4 2 5 ENSG00000265453 chr17 27281094 27281415 + AC026254.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265456 chrX 121370972 121371053 + MIR3672 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500869 0 0 0 0 0 0 0 0 0 ENSG00000265458 chr17 82454273 82458521 - AC132938.3 antisense 6 14 6 20 7 12 6 7 16 ENSG00000265460 chr17 39238466 39250818 + AC015910.1 transcribed_processed_pseudogene 0 1 2 1 1 0 0 0 0 ENSG00000265462 chr16 21506049 21506135 - MIR3680-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500917 1 1 2 5 11 4 10 8 4 ENSG00000265465 chrX 17425881 17425954 + MIR4768 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616249 0 0 0 0 0 0 0 0 0 ENSG00000265469 chr17 73163035 73163359 - POLR3KP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265470 chr3 185767847 185767904 - MIR548AQ miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847078 0 0 0 0 0 0 0 0 0 ENSG00000265472 chr18 67707929 67708246 - AC022655.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265474 chr17 28745569 28747652 - AC010761.4 antisense 14 13 19 35 32 50 52 36 43 ENSG00000265477 chr18 423744 424416 - AP000915.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000265478 chr17 18809956 18810940 + AC107982.3 lincRNA 0 0 0 8 1 0 0 0 0 ENSG00000265479 chr7 76959835 77043775 + DTX2P1-UPK3BP1-PMS2P11 processed_transcript This locus represents naturally-occurring readthrough transcription spanning multiple pseudogenes: DTX2P1 (DTX2 pseudogene 1), UPK3BP1 (uroplakin 3B pseudogene 1), PMS2P11 (PMS1 homolog 2, mismatch repair system component pseudogene 11). Some transcripts may also extend to PMS2P9 (PMS1 homolog 2, mismatch repair system component pseudogene 9). The readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Jan 2016]. 441263 9 0 4 7 7 0 7 4 7 ENSG00000265480 chr17 28275986 28317783 - KRT18P55 transcribed_unprocessed_pseudogene 284085 0 0 0 0 0 0 0 0 0 ENSG00000265483 chr3 48196564 48196616 + MIR4443 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616407 0 0 0 0 0 0 0 0 0 ENSG00000265484 chr18 71216704 71237102 - AC091691.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265485 chr18 24628182 24708542 + LINC01915 lincRNA 729950 0 0 2 0 0 0 0 0 0 ENSG00000265486 chr10 76242022 76242301 - RN7SL518P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265487 chr18 5956101 5960785 + AP001021.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265489 chr17 12760140 12790242 - AC005358.2 antisense 100128006 0 0 0 0 0 0 0 0 0 ENSG00000265490 chr18 706523 707648 + AP001178.2 antisense 1 0 3 3 3 1 8 0 9 ENSG00000265491 chr1 145738868 145824077 - RNF115 protein_coding 27246 GO:0005829, GO:0005829, cytosol, cytosol, GO:0061630, GO:0046872, GO:0005515, GO:0004842, ubiquitin protein ligase activity, metal ion binding, protein binding, ubiquitin-protein transferase activity, GO:0070936, GO:0070534, GO:0051865, GO:0043162, GO:0042059, GO:0000209, protein K48-linked ubiquitination, protein K63-linked ubiquitination, protein autoubiquitination, ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway, negative regulation of epidermal growth factor receptor signaling pathway, protein polyubiquitination, 75 92 125 145 110 165 139 96 138 ENSG00000265494 chr17 13909231 13911212 + AC005304.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265496 chr18 49487339 49491878 + AC100778.3 antisense 22 21 22 36 35 41 17 19 33 ENSG00000265499 chr18 14830166 14830242 + MIR3156-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422907 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000265503 chr17 12917268 12917342 - MIR1269B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616494 0 0 0 0 0 0 0 0 0 ENSG00000265507 chr2 87629755 87629834 + MIR4435-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616499 0 0 0 0 0 0 0 0 0 ENSG00000265510 chr2 88812370 88812454 + MIR4436A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616399 0 0 0 0 0 0 0 0 0 ENSG00000265511 chr17 17507351 17508308 + AC020558.2 antisense 0 1 2 1 0 5 2 2 2 ENSG00000265514 chr18 5081182 5095815 + LINC01892 lincRNA 105371969 0 0 0 0 0 0 0 0 0 ENSG00000265519 chr17 15787787 15788205 - AC015922.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265520 chr8 17681578 17681657 - MIR548V miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422850 0 0 0 0 0 0 0 0 0 ENSG00000265521 chr1 9967381 9967458 + MIR5697 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847055 0 0 0 0 0 0 0 0 0 ENSG00000265526 chr12 123010667 123010728 - MIR4304 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422931 0 0 0 0 0 0 0 0 0 ENSG00000265527 chr6 35664717 35664789 - MIR5690 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847048 0 0 0 0 0 0 0 0 0 ENSG00000265531 chr1 143874793 143883575 + FCGR1CP unprocessed_pseudogene 92 61 135 22 24 36 23 23 41 ENSG00000265533 chr18 67516546 67899619 + AC114689.3 lincRNA 643542 0 0 0 0 0 0 0 0 0 ENSG00000265535 chr1 59974757 59975054 - RN7SL475P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265537 chr16 14911220 14911313 + MIR3180-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422870 0 0 0 0 0 0 0 0 0 ENSG00000265538 chr1 51059837 51059905 + MIR4421 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616189 0 0 0 0 0 0 0 0 0 ENSG00000265539 chr11 69083176 69083258 + MIR3164 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422846 2 1 3 0 2 8 0 1 0 ENSG00000265541 chr17 28416922 28417492 + H3F3BP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265542 chr17 57771946 57834749 - AC015845.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265544 chr17 33529787 33533760 - AA06 sense_intronic 100506677 0 0 0 0 0 0 0 0 0 ENSG00000265545 chr18 4459230 4459458 + AP005403.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265547 chr17 45731703 45732977 - AC217774.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265552 chr18 25055600 25056760 + AC104961.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265554 chr18 10125340 10144406 + AP005271.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265555 chr18 67808505 67814822 - LINC01903 lincRNA 101927430 0 0 0 0 0 0 0 0 0 ENSG00000265556 chr17 20433206 20434285 + LINC01984 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000265558 chr6 158764661 158764753 - MIR3918 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500851 19 35 40 21 45 22 30 28 28 ENSG00000265559 chr11 47557534 47557833 - RN7SL652P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265561 chr17 80098828 80098877 + MIR1268B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616121 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000265564 chr18 9880580 9880886 - PIGPP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265565 chr6 27147626 27147688 + MIR3143 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422934 0 0 0 0 0 0 0 0 0 ENSG00000265566 chr11 57528085 57528365 - RN7SL605P misc_RNA 0 0 0 0 0 5 0 0 0 ENSG00000265567 chr17 22301333 22301657 - AC138761.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265574 chr17 32111562 32112590 - WDR45BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265579 chr18 72743756 72745961 - AC023301.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000265584 chrX 110082118 110082218 + MIR3978 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616491 0 0 1 0 0 0 0 0 0 ENSG00000265588 chr8 80241389 80241473 + MIR5708 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847056 0 0 0 0 0 0 0 0 0 ENSG00000265590 chr21 32578822 32612281 - AP000275.2 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring chromosome 21 open reading frame 59 (C21orf59) and TCP10L (t-complex 10 like) genes on chromosome 21. Readthrough transcripts may encode a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017]. 110091775 0 0 0 0 0 0 0 0 0 ENSG00000265593 chr17 9852748 9853306 - NPM1P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265595 chr20 54068408 54068485 - MIR4756 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616225 0 0 0 0 0 0 0 0 0 ENSG00000265596 chr1 38089231 38089329 + MIR3659 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500801 0 0 0 0 0 0 0 0 0 ENSG00000265598 chr7 158591616 158591696 + MIR5707 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847032 0 0 0 0 0 0 0 0 0 ENSG00000265599 chr8 100382763 100382845 + MIR4471 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616451 0 0 0 0 0 0 0 0 0 ENSG00000265606 chr1 18883202 18883275 - MIR4695 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616120 0 0 0 0 0 0 0 0 0 ENSG00000265612 chr14 105857513 105857572 - MIR4539 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616374 0 0 0 0 0 0 0 0 0 ENSG00000265614 chr17 34331862 34332228 - AC011193.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265617 chr20 60564562 60564625 + MIR548AG2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616440 0 0 0 0 0 0 0 0 0 ENSG00000265618 chr17 28361601 28362859 - AC002094.2 antisense 46 55 77 49 70 60 26 63 45 ENSG00000265623 chr4 143343460 143343535 + MIR3139 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423017 0 1 1 0 0 0 0 0 0 ENSG00000265625 chr17 29644796 29645847 - AC104564.5 sense_intronic 142 210 126 347 626 471 474 395 410 ENSG00000265626 chr18 76759685 76759866 - AC139085.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265630 chr10 47563604 47569697 + GLUD1P8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265631 chr18 15247429 15247997 - BNIP3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265635 chr12 128294092 128294178 + MIR3612 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500817 0 0 0 0 0 0 0 0 0 ENSG00000265639 chr18 71028770 71033056 + AC090415.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265641 chr18 35934088 35934142 - MIR3929 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500864 0 0 0 0 0 0 0 0 0 ENSG00000265643 chr18 69483627 69618694 - AC119868.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265644 chr18 78480549 78484867 + AC087399.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265646 chr17 27082690 27084036 - TUFMP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265648 chr16 70276069 70276352 + RN7SL279P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265653 chr10 12130760 12130816 - MIR548AK miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616488 0 0 1 0 0 0 0 0 0 ENSG00000265656 chr18 21673628 21682561 + AC106037.2 antisense 38 30 53 13 34 23 43 32 26 ENSG00000265657 chr8 103154614 103154689 + MIR3151 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422992 0 0 0 0 0 0 0 0 0 ENSG00000265658 chrX 1293918 1293992 + MIR3690 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500894 0 0 0 0 0 0 1 0 0 ENSG00000265660 chr8 143733083 143733153 - MIR4664 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616318 0 0 0 0 0 0 0 0 0 ENSG00000265664 chr17 67032409 67033290 - AC005544.2 antisense 0 0 0 0 0 0 3 1 4 ENSG00000265666 chr17 40340867 40343136 - RARA-AS1 antisense 101929693 867 803 1121 262 529 514 356 407 405 ENSG00000265669 chr6 132115192 132115263 - MIR548AJ1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616191 0 0 0 0 0 0 0 0 0 ENSG00000265670 chr18 30954820 30980917 - AC016382.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265671 chr18 894435 907680 - AP000894.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265673 chr15 23562062 23562131 - MIR4508 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616275 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000265675 chr19 49081332 49081630 + RN7SL708P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265678 chr17 82153430 82154815 + AC129510.1 antisense 24 18 25 11 29 17 21 15 29 ENSG00000265681 chr18 49488453 49492523 - RPL17 protein_coding Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene. [provided by RefSeq, Dec 2010]. 6139 GO:0022625, GO:0022625, GO:0005829, GO:0005634, cytosolic large ribosomal subunit, cytosolic large ribosomal subunit, cytosol, nucleus, GO:0005515, GO:0003735, GO:0003735, GO:0003723, protein binding, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0019083, GO:0006614, GO:0006413, GO:0006412, GO:0002181, GO:0000184, viral transcription, SRP-dependent cotranslational protein targeting to membrane, translational initiation, translation, cytoplasmic translation, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 27 20 31 33 47 54 30 13 13 ENSG00000265682 chr2 110069961 110070042 - MIR4267 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422994 0 0 0 0 0 0 0 0 0 ENSG00000265683 chr17 27351858 27352584 - SYPL1P2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000265684 chr5 82078427 82078724 + RN7SL378P misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000265688 chr17 81927829 81930753 + MAFG-DT antisense 92659 2 0 0 3 2 0 0 0 0 ENSG00000265689 chr17 33688803 33689174 + AC024614.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265690 chr16 67163385 67165815 + AC074143.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000265691 chr5 129397062 129397147 - MIR4460 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616325 0 0 0 0 0 0 0 0 0 ENSG00000265692 chr17 82290046 82292814 - LINC01970 lincRNA 101929511 0 3 0 1 4 3 1 2 1 ENSG00000265693 chr17 18704640 18704769 + AC026271.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265694 chr2 168582943 168583018 + MIR4774 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616356 0 0 0 0 0 0 0 0 0 ENSG00000265697 chr17 33534110 33541339 + AC011824.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265698 chr18 70412055 70412391 + LARP7P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265699 chr5 58530043 58530109 - MIR548AE2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616339 0 0 0 0 0 0 0 0 0 ENSG00000265702 chr17 62699244 62737922 + AC005821.1 antisense 105371855 0 0 0 0 0 0 0 0 0 ENSG00000265706 chr2 28927983 28928060 + SNORD53B snoRNA 109617012 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000265712 chr18 51687525 51688209 - AC027216.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265713 chr17 29775747 29776701 - AC023389.2 transcribed_processed_pseudogene 0 0 1 0 0 5 0 0 2 ENSG00000265717 chr18 76254292 76255214 - AC103808.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265719 chr10 119377972 119378043 + MIR4681 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616398 0 2 0 0 0 0 0 1 0 ENSG00000265724 chr7 73711317 73711397 + MIR4284 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422948 0 0 0 0 0 0 0 0 0 ENSG00000265725 chr6 120015179 120015257 + MIR3144 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422951 0 0 0 0 0 0 0 0 0 ENSG00000265727 chrX 74242608 74242908 - RN7SL648P misc_RNA 0 1 0 0 2 5 2 2 0 ENSG00000265728 chr18 10594590 10604798 + AP001099.1 lincRNA 3 6 7 4 7 2 3 7 3 ENSG00000265733 chr10 45984610 45984810 + SNORA74C-1 snoRNA 109616974 GO:0005730, nucleolus, GO:0006396, RNA processing, 2 0 0 0 1 0 1 2 2 ENSG00000265734 chr2 213758067 213758159 + MIR4438 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616375 0 0 0 0 0 0 0 0 0 ENSG00000265735 chr9 9442060 9442380 + RN7SL5P misc_RNA 1 2 0 1 0 0 0 2 0 ENSG00000265737 chr18 14816151 14825249 - AP006565.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265739 chr17 30122429 30126118 - AC104984.3 antisense 1 0 1 0 1 8 2 1 0 ENSG00000265740 chr5 171359117 171359412 + RN7SL339P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265743 chr17 30964935 30965500 - AC138207.5 lincRNA 2 4 0 0 0 1 4 0 0 ENSG00000265744 chr1 233624152 233624219 + MIR4427 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616390 0 0 0 0 0 0 0 0 0 ENSG00000265745 chr13 60034465 60034762 - RN7SL375P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265746 chr17 19082437 19084834 + KYNUP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265749 chr17 8365563 8381328 + AC135178.3 antisense 1 5 4 20 4 4 6 5 3 ENSG00000265750 chr18 24159509 24162211 - AC090772.3 lincRNA 0 1 0 1 0 0 0 0 0 ENSG00000265751 chr18 21380286 21451017 - AC015878.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000265752 chr18 23957754 23982556 - AC010754.1 lincRNA 0 0 0 0 1 1 2 0 0 ENSG00000265753 chr1 151300665 151300964 - RN7SL444P misc_RNA 0 2 3 4 1 5 5 1 0 ENSG00000265758 chr18 21981121 22051159 + LINC01900 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265763 chr10 47365496 47384273 - ZNF488 protein_coding 118738 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0003677, metal ion binding, protein binding, DNA binding, GO:0048714, GO:0045892, GO:0031643, GO:0014003, GO:0006355, positive regulation of oligodendrocyte differentiation, negative regulation of transcription, DNA-templated, positive regulation of myelination, oligodendrocyte development, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 1 0 ENSG00000265766 chr18 14477955 14499278 - CXADRP3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265768 chr14 93948226 93948302 - MIR4506 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616140 0 0 0 0 0 0 0 0 0 ENSG00000265775 chr17 34118347 34118882 - AC004147.5 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000265776 chr16 18405698 18405762 - MIR3670-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504726 0 0 0 0 0 0 0 0 0 ENSG00000265777 chr17 2199762 2200039 + RN7SL624P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265778 chr18 76491652 76493918 + AC018413.1 antisense 101927989 8 7 7 3 21 9 6 10 20 ENSG00000265781 chr18 71000477 71011490 - AC090415.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265784 chr17 38918801 38921769 - AC006441.3 antisense 843 761 981 394 503 554 562 483 538 ENSG00000265786 chr18 14877611 14884052 + LINC01906 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265787 chr18 14337423 14342524 + CYP4F35P transcribed_unprocessed_pseudogene 284233 0 3 3 4 3 0 3 0 0 ENSG00000265788 chr17 27651334 27665712 - NOS2P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265789 chrX 151168222 151168326 + MIR4330 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422930 0 0 0 0 0 0 0 0 0 ENSG00000265790 chr17 20901939 20902680 - RNASEH1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265791 chr17 30781493 30782221 - AC127024.4 sense_intronic 5 3 2 2 6 0 8 2 7 ENSG00000265793 chr15 21843750 21843824 + MIR3118-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422935 0 0 0 0 0 0 0 0 0 ENSG00000265794 chr17 32324431 32360700 + AC005899.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000265798 chr17 31038575 31059121 - AC138207.6 transcribed_unprocessed_pseudogene 1 0 0 0 4 0 0 0 0 ENSG00000265799 chr17 40012226 40014705 - AC090844.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265800 chr17 75138416 75141350 - AC022211.3 sense_intronic 1 4 8 9 15 32 4 12 7 ENSG00000265801 chr17 27465112 27465541 + AC069366.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000265802 chr13 45002150 45002447 + RN7SL49P misc_RNA 0 1 4 1 0 0 1 1 4 ENSG00000265806 chr9 136830957 136831023 + MIR4292 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422860 0 1 3 5 0 1 0 2 0 ENSG00000265808 chr1 120150898 120176515 - SEC22B protein_coding The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.[provided by RefSeq, Sep 2009]. 9554 GO:0042470, GO:0033116, GO:0031201, GO:0030670, GO:0030137, GO:0030133, GO:0016021, GO:0012507, GO:0012507, GO:0012507, GO:0008021, GO:0005793, GO:0005793, GO:0005789, GO:0005789, GO:0000139, GO:0000139, melanosome, endoplasmic reticulum-Golgi intermediate compartment membrane, SNARE complex, phagocytic vesicle membrane, COPI-coated vesicle, transport vesicle, integral component of membrane, ER to Golgi transport vesicle membrane, ER to Golgi transport vesicle membrane, ER to Golgi transport vesicle membrane, synaptic vesicle, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum-Golgi intermediate compartment, endoplasmic reticulum membrane, endoplasmic reticulum membrane, Golgi membrane, Golgi membrane, GO:0019905, GO:0005515, GO:0005484, syntaxin binding, protein binding, SNAP receptor activity, GO:1990668, GO:1902902, GO:0048280, GO:0048208, GO:0045732, GO:0015031, GO:0006890, GO:0006890, GO:0006888, GO:0006888, GO:0002479, vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane, negative regulation of autophagosome assembly, vesicle fusion with Golgi apparatus, COPII vesicle coating, positive regulation of protein catabolic process, protein transport, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum, endoplasmic reticulum to Golgi vesicle-mediated transport, endoplasmic reticulum to Golgi vesicle-mediated transport, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, 1395 1680 2169 1661 1727 2340 2080 1406 1901 ENSG00000265810 chr7 151433489 151433639 - MIR3907 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500835 0 0 0 0 0 0 0 0 0 ENSG00000265813 chr3 153199700 153200017 - RN7SL300P misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000265814 chr15 40615665 40615928 - RN7SL376P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265815 chr1 52940314 52940413 + MIR1273G miRNA 0 0 0 0 0 0 0 0 0 ENSG00000265817 chr8 94372170 94436952 - FSBP protein_coding 100861412 GO:0005654, GO:0005634, GO:0005634, nucleoplasm, nucleus, nucleus, GO:0042802, GO:0005515, identical protein binding, protein binding, 1 0 2 5 0 0 2 0 0 ENSG00000265818 chr6 8015726 8102530 - EEF1E1-BLOC1S5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000265820 chr16 1734985 1735066 + MIR3177 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423012 0 0 0 0 4 0 0 0 0 ENSG00000265822 chr1 55225641 55225723 + MIR4422 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616272 0 0 0 0 0 0 0 0 0 ENSG00000265828 chr6 166997807 166997912 - MIR3939 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500857 6 1 10 2 8 7 3 1 2 ENSG00000265829 chr4 60922619 60922684 + MIR548AG1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616450 0 0 0 0 0 0 0 0 0 ENSG00000265831 chr1 241132272 241132346 + MIR3123 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422856 0 0 0 0 0 0 0 0 0 ENSG00000265833 chr17 27707178 27707250 + AC130289.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265836 chr18 76751305 76751841 + CCND3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265840 chr17 28749731 28750079 - AC010761.5 antisense 10 5 16 25 18 17 35 16 10 ENSG00000265841 chr21 18686090 18686164 - MIR548X miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422920 0 0 0 0 0 0 0 0 0 ENSG00000265843 chr18 77971294 77993722 - LINC01029 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265844 chr18 77180106 77235430 + AC100863.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265845 chr17 28926275 28944749 + AC024267.4 antisense 101927018 56 68 55 31 47 46 28 25 30 ENSG00000265846 chr4 174423795 174423864 + MIR4276 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423042 0 0 0 0 0 0 0 0 0 ENSG00000265847 chr8 27886039 27886116 - MIR4287 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422828 0 0 0 0 0 0 0 0 0 ENSG00000265848 chr9 134849609 134849682 - MIR3689D1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616131 0 0 0 0 0 0 0 0 0 ENSG00000265850 chr3 197293878 197293948 - MIR4797 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616216 0 0 0 0 0 0 0 0 0 ENSG00000265853 chr17 16893198 16893429 - AL353996.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265855 chr15 80997417 80997473 - MIR4514 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616181 0 0 0 0 0 0 0 0 0 ENSG00000265859 chr3 131985855 131985931 - MIR5704 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847040 0 0 0 0 0 0 0 0 0 ENSG00000265861 chr12 97939056 97939121 - MIR4495 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616287 0 0 0 0 0 0 0 0 0 ENSG00000265863 chr17 31759795 31761385 + AC007923.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265867 chr16 2133119 2133204 + MIR4516 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616258 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000265871 chr15 90006755 90006841 + MIR3174 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422841 12 8 10 1 1 0 4 0 12 ENSG00000265872 chr9 134849487 134849564 - MIR3689A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500846 0 0 0 0 0 0 0 0 0 ENSG00000265873 chr9 88745836 88745905 - MIR4289 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423015 0 0 0 0 0 0 0 0 0 ENSG00000265874 chr11 65649192 65649253 + MIR4489 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616284 10 8 9 11 13 9 13 11 20 ENSG00000265878 chr7 71307672 71307770 - MIR3914-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500836 0 0 0 0 0 0 0 0 0 ENSG00000265879 chr19 10780254 10780335 + MIR4748 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616425 0 0 0 0 0 0 0 0 0 ENSG00000265881 chr17 21444833 21445439 - PDLIM1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265882 chr3 195553792 195554043 + RN7SL73P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265883 chr17 65185319 65185482 - AC060771.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265885 chr13 110097851 110098151 - RN7SL783P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265888 chr18 31101588 31162789 + DSCAS antisense 101927698 0 1 1 1 4 0 0 0 0 ENSG00000265889 chr17 36285312 36285413 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265892 chr4 139185441 139185746 + RN7SL311P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265894 chr4 56805834 56806131 + RN7SL357P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265897 chr2 90359809 90360032 - AC233263.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265902 chr11 74720268 74720337 - MIR4696 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616402 0 0 0 0 0 0 0 0 0 ENSG00000265905 chr2 38936876 38937158 - RN7SL96P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265907 chr18 2948238 2960756 + AP000919.2 antisense 229 328 261 87 173 88 90 132 69 ENSG00000265908 chr17 28944796 28945394 + AC024267.5 antisense 14 30 23 10 8 23 7 9 9 ENSG00000265912 chr17 64943262 64951054 + AC037487.1 lincRNA 0 0 0 0 0 0 0 0 4 ENSG00000265916 chr17 20532248 20532881 - AC015818.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265917 chr12 95309923 95309984 + MIR3685 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500802 0 0 1 0 0 0 0 0 0 ENSG00000265918 chr16 67019519 67019817 + RN7SL543P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265919 chr5 87114879 87114954 - MIR4280 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422887 0 0 0 0 0 0 0 0 0 ENSG00000265924 chr5 135802985 135803075 - MIR5692C1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847082 0 0 0 0 0 0 0 0 0 ENSG00000265927 chr17 73831572 73836019 - AC125421.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265929 chr14 106850885 106850999 - MIR5195 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847062 0 0 0 0 0 0 0 0 0 ENSG00000265932 chr7 19705358 19705436 - MIR3146 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422967 0 0 0 0 0 0 2 0 0 ENSG00000265933 chr18 6919496 6929966 - LINC00668 lincRNA 400643 0 0 0 0 0 0 0 0 0 ENSG00000265934 chr18 76703444 76704254 - ARL2BPP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265935 chr17 73662568 73663848 - AC032019.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265936 chr18 67375133 67375305 + AC091042.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265939 chr18 22900486 22900995 - UBE2CP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265942 chr15 49042341 49042643 - RN7SL577P misc_RNA 0 0 0 0 0 0 0 0 1 ENSG00000265943 chr18 22699481 22933764 - AC090912.1 antisense 2 0 0 2 0 0 0 0 0 ENSG00000265944 chr18 6511416 6590653 + LINC01387 lincRNA 100130480 0 0 0 0 0 0 0 0 0 ENSG00000265946 chr18 71665148 71665525 + AC090312.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265948 chr18 21316878 21317795 + AC015878.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000265954 chr19 49854591 49854651 + MIR4749 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616313 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000265956 chr3 109602828 109602897 + MIR4445 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616129 0 0 0 0 0 0 0 0 0 ENSG00000265957 chr18 44970082 44970166 - MIR4319 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422829 0 0 0 0 0 0 0 0 0 ENSG00000265961 chr1 31503631 31503744 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000265962 chr18 8695856 8707621 - GACAT2 antisense 100287082 0 1 0 0 0 0 0 0 0 ENSG00000265964 chr17 45733353 45734669 - AC217774.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265965 chr2 109313571 109313625 - MIR4266 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423027 0 0 0 0 0 0 0 0 0 ENSG00000265967 chr15 64695041 64695594 + AC100830.3 antisense 195 220 288 56 139 67 96 49 43 ENSG00000265971 chr17 63454993 63455817 + AC005828.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265972 chr1 145992435 145996600 - TXNIP protein_coding This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. 10628 GO:0005829, GO:0005758, GO:0005737, GO:0005737, GO:0005634, cytosol, mitochondrial intermembrane space, cytoplasm, cytoplasm, nucleus, GO:0031625, GO:0031625, GO:0005515, GO:0004857, ubiquitin protein ligase binding, ubiquitin protein ligase binding, protein binding, enzyme inhibitor activity, GO:0071228, GO:0051782, GO:0051592, GO:0048008, GO:0043086, GO:0043065, GO:0042542, GO:0042493, GO:0042127, GO:0032570, GO:0032355, GO:0030216, GO:0015031, GO:0009749, GO:0009612, GO:0007049, GO:0006606, GO:0000122, cellular response to tumor cell, negative regulation of cell division, response to calcium ion, platelet-derived growth factor receptor signaling pathway, negative regulation of catalytic activity, positive regulation of apoptotic process, response to hydrogen peroxide, response to drug, regulation of cell population proliferation, response to progesterone, response to estradiol, keratinocyte differentiation, protein transport, response to glucose, response to mechanical stimulus, cell cycle, protein import into nucleus, negative regulation of transcription by RNA polymerase II, 51623 58838 72220 5096 14528 10352 7741 15518 10099 ENSG00000265973 chr11 49843488 49846533 - AP006587.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000265975 chr17 8967523 8976995 + AC002091.1 lincRNA 146 146 243 34 53 94 73 65 175 ENSG00000265976 chr17 31575269 31575358 + MIR4725 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616449 0 0 0 0 0 0 0 0 0 ENSG00000265980 chr18 29278509 29361963 - AC074237.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265981 chr3 124732439 124732516 + MIR544B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422864 0 0 0 1 0 0 0 0 0 ENSG00000265982 chr17 64778842 64778937 - AC103810.3 unprocessed_pseudogene 61 98 94 81 99 101 85 83 59 ENSG00000265984 chr18 21240675 21241371 - AC022809.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265986 chr1 196582413 196582481 - MIR4735 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616363 0 0 0 0 0 0 0 0 0 ENSG00000265987 chr17 75344405 75373662 + AC011933.4 antisense 4 3 2 6 1 3 2 3 3 ENSG00000265991 chr16 30875266 30875323 - MIR4519 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616231 0 0 0 0 0 0 0 1 0 ENSG00000265992 chr3 54632122 54639857 - ESRG sense_intronic 790952 GO:0005634, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000265993 chr14 67441855 67441930 - MIR5694 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847064 0 0 0 0 0 0 0 0 0 ENSG00000265994 chr18 28638714 28789580 + AC090365.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265995 chr18 71890409 71944577 - AC069114.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000265996 chr1 65057755 65057842 - MIR3671 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500854 12 19 15 11 19 23 15 13 39 ENSG00000266002 chr17 59400488 59403303 - AC091059.1 antisense 6 4 7 3 15 9 4 9 21 ENSG00000266003 chr18 51433437 51434783 + AC109315.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266006 chr11 61508596 61508657 + MIR4488 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616470 0 0 0 0 0 0 0 0 0 ENSG00000266009 chr17 20981489 20981654 + AC087393.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266010 chr18 22164886 22169878 - GATA6-AS1 antisense 100128893 0 0 2 0 0 0 0 0 0 ENSG00000266012 chr22 33436582 33436669 - MIR4764 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616295 0 0 0 0 0 0 0 0 0 ENSG00000266013 chr17 39026715 39027110 - LINC02079 lincRNA 105371766 0 0 0 0 0 0 0 0 0 ENSG00000266014 chr18 76247725 76251388 + AC103808.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266015 chr14 102539644 102539726 + MIR4309 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422954 0 0 0 0 0 0 0 0 0 ENSG00000266016 chr12 64622509 64622605 - MIR548Z miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500856 2 1 7 1 3 5 0 0 2 ENSG00000266017 chr9 63819574 63819654 + MIR4477B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616194 12 5 16 49 18 41 38 10 38 ENSG00000266019 chr7 98881650 98881729 + MIR3609 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500819 0 0 0 0 0 0 0 0 0 ENSG00000266028 chr1 206203345 206464443 + SRGAP2 protein_coding This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]. 23380 GO:0045335, GO:0045211, GO:0044327, GO:0030027, GO:0014069, GO:0005886, GO:0005829, GO:0005829, GO:0005829, GO:0005737, GO:0005654, phagocytic vesicle, postsynaptic membrane, dendritic spine head, lamellipodium, postsynaptic density, plasma membrane, cytosol, cytosol, cytosol, cytoplasm, nucleoplasm, GO:0042803, GO:0042802, GO:0031267, GO:0031267, GO:0005515, GO:0005096, GO:0005096, GO:0005096, protein homodimerization activity, identical protein binding, small GTPase binding, small GTPase binding, protein binding, GTPase activator activity, GTPase activator activity, GTPase activator activity, GO:2001223, GO:0060996, GO:0060548, GO:0051056, GO:0051014, GO:0048812, GO:0046847, GO:0043547, GO:0043547, GO:0034446, GO:0030336, GO:0021816, GO:0007165, GO:0003363, negative regulation of neuron migration, dendritic spine development, negative regulation of cell death, regulation of small GTPase mediated signal transduction, actin filament severing, neuron projection morphogenesis, filopodium assembly, positive regulation of GTPase activity, positive regulation of GTPase activity, substrate adhesion-dependent cell spreading, negative regulation of cell migration, extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration, signal transduction, lamellipodium assembly involved in ameboidal cell migration, 540 707 732 311 634 566 494 436 451 ENSG00000266036 chr17 74747319 74748912 - AC016888.1 antisense 353 483 428 184 345 292 242 319 255 ENSG00000266038 chr8 6745164 6745244 + MIR4659A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616348 0 1 0 0 0 0 0 0 0 ENSG00000266039 chr15 28426491 28426584 + MIR4509-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616228 0 0 0 0 0 0 0 0 0 ENSG00000266041 chr11 65636310 65636369 + MIR4690 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616292 0 0 0 0 0 0 0 0 0 ENSG00000266042 chr17 20526102 20526210 + AC015818.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266043 chr12 1660315 1660380 - MIR3649 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500816 0 0 0 0 0 0 0 0 0 ENSG00000266048 chr17 39033926 39034042 - AC091178.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266049 chr18 2688564 2833065 - AP001011.1 antisense 452 457 644 125 260 269 179 252 249 ENSG00000266050 chr17 21573536 21573746 - AC233702.6 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266052 chr13 87618665 87618740 - MIR4500 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616182 0 0 0 0 0 0 0 0 0 ENSG00000266053 chr18 9121265 9136645 - NDUFV2-AS1 antisense 101927275 35 28 42 38 43 15 30 37 21 ENSG00000266059 chr2 20175346 20175639 + RN7SL140P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266063 chr2 111771061 111771134 - MIR4771-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616165 0 0 0 0 0 0 0 0 0 ENSG00000266065 chr18 6493420 6495668 + AP005202.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266066 chr17 62136972 62140639 - POLRMTP1 processed_pseudogene 4 2 1 5 5 6 0 4 8 ENSG00000266071 chr20 45705102 45705180 - MIR3617 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500897 0 0 0 0 0 0 0 0 0 ENSG00000266072 chr13 51348567 51348639 - MIR5693 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847003 0 0 0 0 0 0 0 0 0 ENSG00000266074 chr17 81395475 81466332 + BAHCC1 protein_coding 57597 GO:0003682, chromatin binding, 9 33 24 6 3 1 0 1 0 ENSG00000266075 chr1 3782815 3783111 + RN7SL574P misc_RNA 2 2 0 0 0 0 0 0 0 ENSG00000266076 chr17 65538102 65641033 - AC004805.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000266078 chr2 60387362 60387445 - MIR4432 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616473 0 0 0 0 0 0 0 0 0 ENSG00000266079 chr17 19557211 19557911 + SNORA59B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000266086 chr17 57989038 58007246 - AC015813.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000266088 chr17 40517026 40527002 + AC004585.1 lincRNA 2 4 9 3 6 10 1 1 6 ENSG00000266094 chr1 206507530 206589448 + RASSF5 protein_coding This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 83593 GO:0005874, GO:0005737, GO:0005634, GO:0005634, microtubule, cytoplasm, nucleus, nucleus, GO:0046872, GO:0031267, GO:0005515, metal ion binding, small GTPase binding, protein binding, GO:1900180, GO:0042981, GO:0035556, GO:0031398, GO:0008285, GO:0007165, GO:0006915, regulation of protein localization to nucleus, regulation of apoptotic process, intracellular signal transduction, positive regulation of protein ubiquitination, negative regulation of cell population proliferation, signal transduction, apoptotic process, 9996 9426 15422 3470 5336 5489 4409 4097 4892 ENSG00000266097 chr2 62205826 62205917 + MIR5192 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847087 0 0 0 1 4 0 0 0 0 ENSG00000266099 chr12 94561789 94561859 + MIR5700 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847031 2 4 0 0 3 5 3 1 3 ENSG00000266100 chr17 57522248 57523597 - AC007431.2 antisense 101927557 0 0 0 0 1 0 1 0 0 ENSG00000266101 chr17 39173290 39177503 + AC004408.1 antisense 0 0 0 8 1 0 2 0 1 ENSG00000266102 chr18 10375103 10378114 + AP006219.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266104 chr20 63286808 63286866 + MIR4326 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422945 0 0 0 0 1 0 0 1 0 ENSG00000266105 chr18 31966960 31967545 + AC009831.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266106 chr17 74307210 74309790 - AC103809.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266107 chr17 82668233 82668307 - MIR4525 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616196 0 0 0 0 0 0 0 0 0 ENSG00000266109 chr2 239068817 239068914 - MIR4440 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616397 0 0 0 1 0 1 3 0 0 ENSG00000266110 chr1 85133794 85133873 + MIR4423 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616481 0 0 0 0 0 0 0 0 0 ENSG00000266111 chr17 29352069 29404105 + AC068025.2 lincRNA 0 2 3 1 2 0 0 0 0 ENSG00000266114 chr17 10792059 10794985 + AC015908.4 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000266117 chr17 68095068 68095757 + FBXO36P1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000266120 chr17 30238741 30252237 + AC104984.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266124 chr16 535316 535368 + MIR5587 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847028 2 1 0 3 0 0 0 0 0 ENSG00000266126 chr17 19929372 19929737 - AC005730.3 sense_intronic 0 4 6 11 7 0 2 4 3 ENSG00000266127 chr18 9785108 9787805 + ZNF415P1 processed_pseudogene 6 7 4 10 25 8 18 20 21 ENSG00000266128 chr6 163840561 163840852 + RN7SL366P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266129 chr17 16787235 16788141 - SRP68P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266133 chr21 26953961 26954043 + MIR4759 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616243 0 0 0 0 0 0 0 0 0 ENSG00000266139 chr2 111321013 111321086 - MIR4435-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616341 0 0 2 0 0 1 0 0 4 ENSG00000266140 chr20 60478111 60478181 + MIR4533 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616362 1 0 0 0 0 0 0 0 0 ENSG00000266144 chr1 162157107 162157182 + MIR4654 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616386 0 0 0 0 0 0 0 0 0 ENSG00000266145 chr18 14222008 14222331 + RHOT1P1 processed_pseudogene 8 3 10 4 3 2 7 6 0 ENSG00000266146 chr18 13459947 13460026 + MIR5190 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847080 0 0 0 0 0 0 0 0 0 ENSG00000266148 chr18 39676721 39676779 + MIR5583-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847025 0 0 0 0 0 0 0 0 0 ENSG00000266149 chr18 8360820 8367034 - AP001094.3 antisense 100192426 0 0 0 0 0 0 0 0 0 ENSG00000266150 chr1 59733227 59733296 - MIR4711 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616409 0 0 0 0 0 0 0 0 0 ENSG00000266151 chr20 44408120 44408203 + MIR3646 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500813 0 0 0 0 0 0 0 0 0 ENSG00000266153 chr18 5159332 5171026 + AP005380.1 lincRNA 0 0 0 1 0 0 1 0 0 ENSG00000266155 chr17 64936485 64940229 - AC103810.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266158 chrX 47280811 47281063 - RN7SL785P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266160 chr1 156985755 156986049 - RN7SL612P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266162 chr17 18418195 18418306 - YWHAEP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266166 chr16 25185253 25185538 - RN7SL557P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266168 chr7 57405025 57405090 + MIR3147 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422939 0 0 0 0 0 0 0 0 0 ENSG00000266171 chr18 735746 737459 + AP001020.3 antisense 1 0 6 2 2 6 8 0 0 ENSG00000266173 chr17 63682336 63741986 - STRADA protein_coding The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]. 92335 GO:0005829, GO:0005829, GO:0005737, GO:0005654, GO:0005634, cytosol, cytosol, cytoplasm, nucleoplasm, nucleus, GO:0043539, GO:0030295, GO:0019900, GO:0005524, GO:0005515, GO:0004672, protein serine/threonine kinase activator activity, protein kinase activator activity, kinase binding, ATP binding, protein binding, protein kinase activity, GO:0071902, GO:0032147, GO:0007050, GO:0006611, GO:0006468, positive regulation of protein serine/threonine kinase activity, activation of protein kinase activity, cell cycle arrest, protein export from nucleus, protein phosphorylation, 247 300 265 261 364 281 307 284 260 ENSG00000266174 chr1 228462074 228462152 + MIR4666A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616308 0 0 0 0 0 0 0 0 0 ENSG00000266179 chr17 19600860 19601345 + AC025627.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266180 chr6 72967687 72967753 - MIR4282 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423005 0 0 0 0 0 0 0 0 0 ENSG00000266181 chr18 24522273 24522919 - EIF4A3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266184 chr18 26831520 26832432 - AC018371.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000266185 chr12 69400903 69401200 + RN7SL804P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266187 chr1 150211632 150211925 + RN7SL480P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266188 chr1 52934930 52935017 + MIR5095 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000266189 chr17 81451104 81451188 - MIR3186 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422944 0 0 0 0 0 0 0 0 0 ENSG00000266190 chr17 28021668 28022265 - AC090287.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266192 chr11 96341438 96341526 + MIR1260B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422991 20 38 22 14 19 22 5 13 26 ENSG00000266194 chr8 91205485 91205559 + MIR4661 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616245 0 0 0 0 0 0 0 0 0 ENSG00000266195 chr21 17506453 17506728 + RN7SL163P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266196 chr18 30713275 30714286 + AC090506.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266200 chr10 116620953 116645143 + PNLIPRP2 polymorphic_pseudogene This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]. 5408 GO:0016020, GO:0005615, GO:0005615, GO:0005576, membrane, extracellular space, extracellular space, extracellular region, GO:0102549, GO:0047714, GO:0047714, GO:0047372, GO:0016298, GO:0005509, GO:0004806, GO:0004806, GO:0004806, GO:0004620, GO:0004620, 1-18:1-2-16:0-monogalactosyldiacylglycerol lipase activity, galactolipase activity, galactolipase activity, acylglycerol lipase activity, lipase activity, calcium ion binding, triglyceride lipase activity, triglyceride lipase activity, triglyceride lipase activity, phospholipase activity, phospholipase activity, GO:0044258, GO:0044241, GO:0034638, GO:0019433, GO:0019433, GO:0019376, GO:0016042, GO:0009617, GO:0009395, GO:0009395, GO:0006968, GO:0006641, intestinal lipid catabolic process, lipid digestion, phosphatidylcholine catabolic process, triglyceride catabolic process, triglyceride catabolic process, galactolipid catabolic process, lipid catabolic process, response to bacterium, phospholipid catabolic process, phospholipid catabolic process, cellular defense response, triglyceride metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000266201 chr18 51421063 51421674 - SS18L2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266202 chr17 27798806 27893365 - AC005697.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000266203 chr1 32086949 32087007 + MIR5585 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847018 0 0 0 0 0 0 0 0 0 ENSG00000266204 chr19 10038354 10038413 + MIR5589 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847093 0 0 0 0 0 0 0 0 0 ENSG00000266206 chr8 12727232 12727304 - MIR3926-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500870 0 0 0 0 0 0 0 0 0 ENSG00000266208 chr17 40360655 40364693 + AC080112.1 antisense 1 5 0 4 0 1 3 2 0 ENSG00000266210 chr1 30918469 30918735 - RN7SL371P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266211 chr21 13406384 13406460 - MIR3156-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423018 0 0 0 0 0 0 0 0 0 ENSG00000266213 chr18 78137223 78140887 + AC107892.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266215 chr11 126988458 126988542 - MIR3167 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422918 0 0 0 0 0 0 0 0 0 ENSG00000266217 chr10 47581211 47582321 - CTSLP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266222 chr17 48377262 48380370 - AC036222.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266226 chr19 42133445 42133513 - MIR4323 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422980 0 0 5 0 0 0 0 0 0 ENSG00000266227 chr18 26204869 26205904 + NPM1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266228 chr10 35079598 35079680 - MIR3611 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500890 0 0 0 0 0 0 0 0 0 ENSG00000266232 chr16 2531922 2532005 - MIR3178 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422974 0 0 0 2 3 2 5 1 7 ENSG00000266235 chr16 543277 543366 + MIR3176 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423037 0 1 0 7 0 0 1 0 0 ENSG00000266236 chr17 82482098 82483388 + NARF-IT1 sense_intronic 10 21 25 122 143 183 124 57 101 ENSG00000266237 chr18 26266009 26267409 + AC121320.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266240 chr4 13627865 13627957 + MIR5091 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847023 0 0 0 0 0 0 0 0 0 ENSG00000266242 chr18 14485806 14487501 + GRAMD4P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266243 chr5 31936102 31936159 - MIR4279 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422874 0 0 0 0 0 0 0 0 0 ENSG00000266245 chr6 170330761 170330844 + MIR4644 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616430 0 0 0 0 0 0 0 0 0 ENSG00000266248 chr19 29489775 29526948 - AC011474.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266251 chr18 1176790 1177012 - COX6CP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266255 chr9 36823539 36823599 - MIR4475 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616289 0 0 0 0 0 0 0 0 0 ENSG00000266256 chr18 76615212 76625940 + LINC00683 lincRNA 400660 2 8 12 0 9 10 5 12 18 ENSG00000266258 chr18 70335439 70352459 + LINC01909 lincRNA 101927481 0 0 0 0 0 0 0 0 0 ENSG00000266261 chr17 15651590 15654489 + AC005324.5 antisense 0 0 0 4 0 5 1 0 1 ENSG00000266262 chr1 237471119 237471191 + MIR4428 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616141 0 0 0 0 0 0 0 0 0 ENSG00000266265 chr7 130731235 130734176 - KLF14 protein_coding This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 2013]. 136259 GO:0000785, GO:0000785, chromatin, chromatin, GO:1990837, GO:0046872, GO:0043565, GO:0003682, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, metal ion binding, sequence-specific DNA binding, chromatin binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1902070, GO:0045944, GO:0045944, GO:0006357, positive regulation of sphingolipid mediated signaling pathway, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000266268 chr18 4775054 5004537 - AP005203.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266270 chr4 78820752 78820821 + MIR5096 miRNA 0 0 0 0 0 6 0 1 0 ENSG00000266273 chr18 78795612 78796672 - AC044873.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266274 chr17 30959564 30959850 + RN7SL138P misc_RNA 0 0 2 0 1 0 0 0 4 ENSG00000266276 chr18 48670600 48670668 + MIR4743 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616366 0 0 0 0 0 0 0 0 0 ENSG00000266278 chr18 70380140 70384591 - LINC01910 lincRNA 101060542 0 0 0 0 0 0 0 0 0 ENSG00000266279 chr17 8337697 8338758 + AC135178.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266282 chr17 32227890 32228108 - UBL5P2 processed_pseudogene 0 0 0 0 0 1 2 0 0 ENSG00000266283 chr18 22200619 22205229 - AC091588.3 antisense 4 0 1 0 0 0 0 0 0 ENSG00000266287 chr7 7066964 7067045 - MIR3683 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500886 0 0 0 0 0 0 0 0 0 ENSG00000266288 chr18 5381641 5385330 - AP005671.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266289 chr8 103383078 103383854 - AC012213.3 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000266290 chr17 58076891 58083204 - AC015813.3 lincRNA 101927666 0 0 0 2 0 0 0 0 0 ENSG00000266291 chr16 18402178 18402271 - MIR3180-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422836 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000266296 chr18 28651732 28653208 + ARIH2P1 processed_pseudogene 0 2 0 1 0 0 3 0 0 ENSG00000266297 chr17 12081899 12081996 + MIR744 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126313 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 3 4 6 6 2 20 2 2 0 ENSG00000266299 chr21 13644775 13644850 - MIR3118-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423008 0 0 0 0 0 0 0 0 0 ENSG00000266302 chr17 16690261 16804453 + AC098850.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000266304 chr18 70335929 70337310 - LIVAR lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266305 chr16 30503919 30504001 + MIR4518 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616405 4 0 0 0 1 0 1 0 0 ENSG00000266306 chr17 28269203 28272365 - AC061975.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266307 chr16 85306226 85306325 - MIR5093 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847022 0 0 0 0 0 0 0 0 0 ENSG00000266308 chr15 75895040 75895302 + RN7SL510P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266311 chr17 19164209 19174436 - AC007952.8 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000266312 chr18 76623006 76639011 - LINC01927 lincRNA 0 4 2 0 6 4 0 1 5 ENSG00000266313 chr17 27333256 27348491 + AC026254.2 lincRNA 0 0 0 3 0 3 1 0 1 ENSG00000266315 chr9 111932100 111932169 + MIR4668 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616114 0 0 0 0 0 0 0 0 0 ENSG00000266317 chr3 181813401 181813702 + RN7SL703P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266318 chr7 97963658 97963726 + MIR5692A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847066 0 0 0 0 0 0 2 0 0 ENSG00000266320 chr22 35335640 35335758 + MIR3909 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500826 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0050728, GO:0035195, negative regulation of inflammatory response, gene silencing by miRNA, 15 32 31 4 17 16 5 16 2 ENSG00000266321 chr10 14383200 14383277 - MIR4293 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422843 0 0 0 0 0 0 0 0 0 ENSG00000266324 chr8 123215788 123215863 - MIR4663 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616260 0 0 0 0 0 0 0 0 0 ENSG00000266325 chr13 77698012 77698116 - MIR3665 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500861 0 0 0 0 0 0 0 0 0 ENSG00000266327 chr14 36952309 36952391 - MIR4503 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616280 0 0 0 0 0 0 0 0 0 ENSG00000266328 chrX 55451495 55451582 + MIR4536-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847061 0 0 0 0 0 0 0 0 0 ENSG00000266329 chr5 176629439 176629500 - MIR4281 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422962 0 0 0 0 0 0 0 0 0 ENSG00000266335 chr18 52336361 52339025 - AC016383.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266338 chr1 144421386 144461674 - NBPF15 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]. 284565 GO:0005737, cytoplasm, 86 48 131 132 34 120 113 30 111 ENSG00000266340 chr17 30978610 30980250 - AC138207.7 antisense 2 5 3 1 2 0 0 0 0 ENSG00000266341 chr17 48060383 48060669 - AC004477.2 antisense 69 71 65 18 51 32 40 36 26 ENSG00000266354 chr2 212926257 212926336 + MIR4776-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616267 0 0 0 0 0 0 0 0 0 ENSG00000266356 chr17 27411438 27412806 - AC090615.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266357 chr17 74043452 74154212 - LINC02074 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266364 chr17 20633034 20633259 - AC087499.7 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266365 chr17 62231470 62247153 - AC053481.3 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000266368 chr17 11953889 11977594 - AC005410.2 antisense 3 1 0 0 0 0 1 1 7 ENSG00000266369 chr17 20855946 20857317 + AC090774.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266370 chr12 112037599 112037715 - MIR3657 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500889 0 0 0 0 0 0 0 0 0 ENSG00000266371 chr17 31133182 31138518 + AC079915.1 sense_intronic 2 0 1 5 2 3 2 2 5 ENSG00000266373 chr18 3580169 3580754 + AP002472.1 processed_pseudogene 3 0 0 3 1 1 1 3 1 ENSG00000266378 chr17 14327335 14329474 + AC005224.3 lincRNA 0 1 1 4 0 2 0 0 0 ENSG00000266379 chr17 32088160 32094933 - AC090616.5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266383 chr3 124132929 124133025 + MIR5002 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847021 0 0 0 0 0 0 0 0 0 ENSG00000266385 chr17 32411217 32412420 + AC005899.5 lincRNA 1 0 1 0 0 0 2 1 0 ENSG00000266389 chr17 8965896 8967070 + AC002091.2 lincRNA 116 123 219 21 47 89 110 58 113 ENSG00000266392 chr17 81400716 81400778 - MIR4740 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616294 0 0 0 0 0 0 0 0 0 ENSG00000266396 chr3 75738280 75738363 + MIR4273 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422955 2 0 0 2 0 0 2 0 0 ENSG00000266397 chr18 2967018 2985410 + AP000919.3 antisense 1 2 2 1 8 0 2 4 9 ENSG00000266401 chr18 3653410 3656282 + AP002478.1 antisense 105371967 0 0 4 0 2 1 0 0 0 ENSG00000266402 chr17 64145970 64146476 + SNHG25 lincRNA 0 0 0 3 9 6 0 4 0 ENSG00000266405 chr18 2652170 2655395 - CBX3P2 transcribed_processed_pseudogene 645158 52 55 40 31 33 24 29 11 27 ENSG00000266407 chr10 96064315 96064399 - MIR3157 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422892 0 0 0 0 0 0 3 0 0 ENSG00000266412 chr10 46005088 46030714 - NCOA4 protein_coding This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]. 8031 GO:0044754, GO:0005634, autolysosome, nucleus, GO:0003713, transcription coactivator activity, GO:1903508, GO:0071394, GO:0071391, GO:0030520, GO:0009725, GO:0008584, GO:0006879, GO:0006622, positive regulation of nucleic acid-templated transcription, cellular response to testosterone stimulus, cellular response to estrogen stimulus, intracellular estrogen receptor signaling pathway, response to hormone, male gonad development, cellular iron ion homeostasis, protein targeting to lysosome, 12284 11167 14977 2152 5835 4076 3298 6183 4335 ENSG00000266415 chr5 9053816 9053895 - MIR4636 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616326 0 0 0 0 0 0 0 0 0 ENSG00000266416 chr17 27708111 27708138 + AC130289.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266417 chr1 178677749 178677834 + MIR4424 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616328 0 0 0 0 0 0 0 0 0 ENSG00000266420 chrX 119434519 119434820 + RN7SL118P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266421 chr4 85722468 85722533 + MIR4451 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616349 3 0 0 3 0 0 5 1 5 ENSG00000266423 chr11 66934434 66934506 - MIR3163 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423029 0 0 0 0 0 0 0 0 0 ENSG00000266426 chr16 76868936 76869019 + MIR4719 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616172 0 0 0 0 0 0 0 0 0 ENSG00000266431 chr14 53948427 53948484 - MIR5580 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847076 0 0 0 0 0 0 0 0 0 ENSG00000266433 chr17 27417690 27431623 + TBC1D3P5 transcribed_unprocessed_pseudogene 440419 0 0 0 0 0 0 0 0 0 ENSG00000266436 chr2 79649294 79649359 - MIR4264 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422888 0 0 0 0 0 0 0 0 0 ENSG00000266437 chr19 4445978 4446048 + MIR4746 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616371 2 4 1 0 16 8 8 0 13 ENSG00000266439 chr16 10221775 10222073 - RN7SL493P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266441 chr18 6728821 6729862 - AP005205.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266445 chr17 82476597 82477924 - NARF-AS1 antisense 1 3 0 0 2 7 3 5 0 ENSG00000266446 chr9 21995482 21996013 + AL449423.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266448 chr17 31709568 31709859 + AC007923.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266449 chr15 76586647 76586691 + MIR3713 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500855 0 0 0 0 0 0 0 0 0 ENSG00000266450 chr18 1655177 1779955 + AC019183.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266454 chr16 18411894 18411977 - MIR3179-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423006 0 0 0 0 0 0 0 0 0 ENSG00000266456 chr18 650229 652843 + AP001178.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266458 chr1 159899979 159900079 - MIR4259 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422852 0 1 0 0 1 0 0 0 0 ENSG00000266460 chr18 75844925 75868252 - AC021506.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266461 chr14 100814491 100814574 + MIR2392 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616495 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000266463 chr20 63238779 63238842 + MIR3196 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423014 0 0 0 0 0 0 0 0 0 ENSG00000266466 chr17 21532974 21542786 + AC233702.7 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266467 chr10 68007718 68008017 - RN7SL220P misc_RNA 0 1 1 0 0 0 0 1 3 ENSG00000266469 chr17 39401793 39406233 + AC005288.1 antisense 54 59 50 38 29 49 33 42 28 ENSG00000266470 chr18 10632238 10632396 + AP001180.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266472 chr1 150293720 150308979 + MRPS21 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]. 54460 GO:0005763, GO:0005743, mitochondrial small ribosomal subunit, mitochondrial inner membrane, GO:0003735, GO:0003735, GO:0003723, structural constituent of ribosome, structural constituent of ribosome, RNA binding, GO:0070126, GO:0070125, GO:0032543, GO:0006412, mitochondrial translational termination, mitochondrial translational elongation, mitochondrial translation, translation, 54 36 57 75 38 67 60 48 50 ENSG00000266473 chr17 67244837 67245806 + AC007448.3 antisense 15 13 23 11 7 1 16 3 10 ENSG00000266477 chr5 69478997 69479265 - RN7SL616P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266478 chr5 143679860 143679971 + MIR5197 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846991 0 0 0 0 0 0 0 0 0 ENSG00000266479 chr18 29256817 29257060 - AC105245.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266489 chr18 24516699 24542023 - AC007922.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266490 chr17 30792372 30792833 + AC127024.5 lincRNA 105 118 116 64 115 97 107 92 80 ENSG00000266494 chr6 41598723 41598788 + MIR4641 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616178 0 0 0 0 0 0 0 0 0 ENSG00000266495 chr18 23257164 23260354 - AC011731.1 antisense 0 0 0 1 0 0 2 0 1 ENSG00000266497 chr17 46503946 46509339 + RDM1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266498 chr17 17235433 17236118 - AC055811.3 lincRNA 1 3 8 44 45 65 71 24 55 ENSG00000266501 chr17 73067870 73068288 - AC025198.1 processed_pseudogene 2 1 1 0 4 0 0 3 2 ENSG00000266502 chr8 74548543 74548617 + MIR5681A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847058 0 0 0 0 0 0 0 0 0 ENSG00000266503 chr22 28642979 28643270 - RN7SL162P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266504 chr17 45553710 45559070 - RDM1P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266505 chr13 30022021 30023800 - AL354674.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266507 chr9 136886733 136886803 + MIR4479 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616480 0 0 0 0 0 0 0 0 0 ENSG00000266508 chr22 48274364 48274415 + MIR3201 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422916 0 0 0 0 0 0 0 0 0 ENSG00000266509 chr6 33698128 33698234 + MIR3934 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500873 0 0 0 1 0 0 0 0 0 ENSG00000266513 chr18 3770017 3771430 - AP002478.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266514 chr9 134850742 134850807 - MIR3689F miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616212 0 0 0 0 0 0 0 0 0 ENSG00000266515 chr4 86542482 86542552 - MIR4452 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616463 0 0 0 0 0 0 0 0 0 ENSG00000266517 chr15 25848747 25848825 - MIR4715 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616474 0 0 0 0 0 0 0 0 0 ENSG00000266518 chr2 219906502 219906565 - MIR4268 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422959 0 0 0 0 0 0 0 0 0 ENSG00000266520 chr18 24685772 24686351 - RAC1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266521 chr18 31496645 31497195 - AC021549.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266522 chr18 15003975 15006352 - AP005242.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266524 chr10 47300386 47313547 + GDF10 protein_coding This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This promotes neural repair after stroke. Additionally, this protein may act as a tumor suppressor and reduced expression of this gene is associated with oral cancer. [provided by RefSeq, Jul 2016]. 2662 GO:0062023, GO:0005615, collagen-containing extracellular matrix, extracellular space, GO:0008083, GO:0005125, growth factor activity, cytokine activity, GO:0060395, GO:0045668, GO:0045444, GO:0010862, GO:0010862, GO:0007179, GO:0001649, GO:0001501, SMAD protein signal transduction, negative regulation of osteoblast differentiation, fat cell differentiation, positive regulation of pathway-restricted SMAD protein phosphorylation, positive regulation of pathway-restricted SMAD protein phosphorylation, transforming growth factor beta receptor signaling pathway, osteoblast differentiation, skeletal system development, 0 0 0 0 0 0 0 0 1 ENSG00000266525 chr7 67114322 67114397 - MIR4650-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616310 0 0 0 0 0 0 0 0 0 ENSG00000266527 chr17 27874645 27881237 + AC005697.2 antisense 31 17 27 18 26 25 11 22 7 ENSG00000266529 chr17 22519617 22520709 + MTCYBP13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266530 chr18 37657135 37657215 + MIR4318 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422857 0 0 0 0 0 0 0 0 0 ENSG00000266531 chr14 65044688 65044769 + MIR4706 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616490 0 0 0 0 0 0 0 0 0 ENSG00000266533 chr22 46091044 46091126 + MIR3619 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500828 0 0 0 0 0 0 0 0 0 ENSG00000266535 chr17 33111858 33131743 + AC008133.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266537 chr17 59174983 59181787 - SPDYE22P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266538 chr17 15530773 15531089 - AC005838.2 lincRNA 1 0 0 2 0 3 0 1 3 ENSG00000266541 chr18 9587386 9590182 + AP001381.1 antisense 10 17 6 8 10 10 7 5 5 ENSG00000266545 chr15 20940252 20940333 + MIR5701-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847060 0 0 0 0 0 0 0 0 0 ENSG00000266549 chr18 26952201 26952558 - AC023575.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266553 chr14 76967518 76967765 - RN7SL356P misc_RNA 0 4 0 2 2 0 0 0 0 ENSG00000266554 chr18 14946267 14974215 + LINC01443 lincRNA 400644 0 0 0 0 0 0 0 0 0 ENSG00000266555 chr6 138435213 138435294 - MIR3145 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423001 0 0 0 0 0 0 0 0 0 ENSG00000266559 chr19 39409623 39409678 - MIR4530 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616163 0 0 0 2 2 5 1 8 4 ENSG00000266560 chrX 152114994 152138556 - MAGEA10-MAGEA5 processed_transcript This locus represents naturally occurring read-through transcription between the neighboring MAGEA10 (melanoma antigen family A, 10) and MAGEA5 (melanoma antigen family A, 5) genes on chromosome X. The read-through transcript is predicted to encode the downstream gene product. [provided by RefSeq, Mar 2011]. 100533997 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0051983, regulation of chromosome segregation, 0 0 0 0 0 0 0 0 0 ENSG00000266561 chr17 58675286 58675462 + AC011195.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266563 chr17 21259968 21260501 - EIF1P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266564 chr1 22266239 22266300 + MIR4418 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616433 0 0 0 0 0 0 0 0 0 ENSG00000266569 chr7 72822894 72823171 - RN7SL377P misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000266570 chr11 79422169 79422226 - MIR5579 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847000 0 0 0 0 0 0 0 0 0 ENSG00000266573 chr18 24725781 24929076 + AC018697.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266575 chr18 832238 832469 + BOLA2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266578 chr18 3284145 3327292 + AP001025.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266579 chr6 57493855 57497691 + FO680682.1 lincRNA 0 0 0 0 2 0 0 1 0 ENSG00000266580 chr1 31758660 31758735 - MIR4254 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423028 0 0 0 0 0 0 0 0 0 ENSG00000266581 chr11 88176502 88176593 + MIR3166 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423040 0 0 0 0 0 0 0 0 0 ENSG00000266582 chr18 47380496 47380565 + MIR4527 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616264 0 0 0 0 0 0 0 0 0 ENSG00000266583 chr9 122120082 122120167 - MIR4478 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616312 0 0 0 0 0 0 0 0 0 ENSG00000266586 chr18 78908629 78918993 - AC091027.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266588 chr17 39003248 39013032 - AC006441.4 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000266589 chr15 66496958 66497034 - MIR4512 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616149 1 0 2 1 0 0 0 0 0 ENSG00000266593 chr15 51242190 51242264 + MIR4713 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616369 0 0 0 0 0 0 0 0 0 ENSG00000266594 chr22 40813883 40813958 - MIR4766 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616283 1 0 0 0 0 0 1 0 0 ENSG00000266598 chr17 65051909 65053308 + AC037487.2 antisense 3 4 10 3 4 13 5 6 17 ENSG00000266599 chr17 32518953 32531492 + AC079336.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266601 chr17 47929682 47933106 - AC018521.6 antisense 4 5 1 1 6 5 6 3 1 ENSG00000266602 chr18 1509183 1647097 + AC008109.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266604 chr18 10612304 10626353 - LINC01887 lincRNA 18 8 10 11 1 8 4 15 11 ENSG00000266605 chr18 14450216 14450883 - LONRF2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266610 chr12 100158502 100158765 - RN7SL176P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266611 chr13 51552589 51552667 + MIR4703 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616423 0 0 0 0 0 0 0 0 0 ENSG00000266613 chr18 8412129 8414304 + RFWD2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266614 chr18 76259166 76260114 + AC103808.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266617 chr6 157529132 157529200 + MIR3692 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500899 0 0 0 0 0 0 0 0 0 ENSG00000266618 chr1 224398227 224398311 - MIR4742 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616468 3 4 2 1 11 17 3 3 12 ENSG00000266619 chr6 44435641 44435722 + MIR4642 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616352 0 0 0 0 0 0 0 0 0 ENSG00000266627 chr19 3920245 3920506 - RN7SL202P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266634 chr1 17277889 17277975 + MIR3972 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616188 0 0 0 0 0 0 0 0 0 ENSG00000266640 chr19 58386770 58386858 - MIR4754 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616168 0 0 0 0 0 0 0 0 0 ENSG00000266642 chr17 28897738 28899402 + AC024267.6 antisense 115 94 143 71 179 169 105 119 100 ENSG00000266643 chr16 2270713 2270772 + MIR3677 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500812 0 0 0 0 0 0 0 0 0 ENSG00000266644 chr17 64899766 64900716 + AC103810.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266645 chr11 11656651 11656722 - MIR4299 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423026 0 0 0 0 0 0 0 0 0 ENSG00000266647 chr17 62260634 62261936 + AC053481.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266648 chr17 58476138 58476950 - SETP3 processed_pseudogene 1 0 0 0 0 0 0 1 0 ENSG00000266649 chr2 69103682 69103755 + MIR3126 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423030 0 0 0 0 0 0 0 0 0 ENSG00000266651 chr17 16440479 16440952 - AC093484.4 lincRNA 3 4 3 6 0 32 0 3 8 ENSG00000266654 chr17 82160056 82160452 + AC129510.2 antisense 1 2 0 0 2 0 0 3 0 ENSG00000266655 chr12 123536409 123536534 + MIR3908 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500909 0 0 0 0 0 0 0 0 0 ENSG00000266663 chr13 61199798 61199880 - MIR3169 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422973 0 0 0 0 0 0 0 0 0 ENSG00000266664 chr17 19150279 19151286 + AC007952.9 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266665 chr17 79707176 79707249 - MIR4739 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616170 0 0 0 0 0 0 0 0 0 ENSG00000266666 chr20 57321502 57321591 - MIR4325 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422883 0 0 0 0 0 0 0 0 0 ENSG00000266667 chr17 15379864 15417878 - AC005703.4 lincRNA 0 0 3 0 0 0 0 0 0 ENSG00000266668 chr7 97964405 97964481 - MIR5692C2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847017 0 0 0 0 0 0 0 0 0 ENSG00000266673 chr17 21552509 21552711 + AC233702.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266676 chr10 129843299 129843374 - MIR4297 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422873 0 0 0 0 0 0 0 0 0 ENSG00000266677 chr17 18172625 18184753 - AC087164.1 antisense 157 155 149 54 92 74 73 81 36 ENSG00000266680 chr6 63571005 63572408 - AL135905.1 antisense 0 0 3 15 6 19 7 2 5 ENSG00000266690 chr4 7460028 7460118 + MIR4274 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422826 0 0 0 0 0 0 0 0 0 ENSG00000266691 chr17 22277867 22279289 - AC138761.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266692 chr21 44437121 44437175 + RF00285 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000266693 chr18 14613137 14614184 + OR4K8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266696 chr18 49205912 49208781 + AC044840.1 antisense 0 1 0 0 1 2 0 0 0 ENSG00000266698 chr4 184851013 184851110 - MIR3945 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500818 13 5 11 8 2 7 1 3 8 ENSG00000266703 chr11 90555774 90555857 - MIR4490 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616186 0 0 0 0 0 0 0 0 0 ENSG00000266704 chr12 120155434 120155499 - MIR4498 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616179 0 0 0 0 0 0 0 0 0 ENSG00000266705 chr2 181305593 181305652 - MIR4437 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616213 0 0 0 0 0 0 0 0 0 ENSG00000266707 chr17 66197693 66198238 + PSMD7P1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000266708 chr18 8635179 8636347 - AP001793.1 antisense 17 8 10 19 11 14 17 11 22 ENSG00000266709 chr17 14303854 14305505 + MGC12916 lincRNA 14 11 15 8 6 4 8 10 7 ENSG00000266710 chrX 18915243 18915535 - RN7SL48P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266711 chr17 79132722 79136402 + AC021534.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266712 chr8 76966768 76966850 - MIR3149 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422921 0 0 0 0 0 0 0 0 0 ENSG00000266714 chr17 75588058 75626501 + MYO15B protein_coding 80022 977 1203 1625 907 1089 1466 922 830 1191 ENSG00000266717 chr17 67950885 67951746 - AC134407.1 antisense 0 4 10 9 25 3 17 9 1 ENSG00000266718 chr17 32495536 32500910 + AC079336.5 antisense 0 0 0 0 0 3 0 0 0 ENSG00000266719 chr10 72721029 72721100 + MIR4676 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616286 0 0 0 0 0 0 0 0 0 ENSG00000266720 chr20 18258554 18258851 - RN7SL14P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266721 chr19 12920320 12920404 + MIR5695 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847016 0 0 0 0 0 0 0 0 0 ENSG00000266728 chr17 27623364 27640777 + AC015688.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000266729 chr18 31343368 31426988 - DSG1-AS1 antisense 101927718 0 0 0 0 0 0 0 0 0 ENSG00000266733 chr17 30553502 30563493 + TBC1D29 protein_coding 26083 4 13 1 10 13 2 10 7 3 ENSG00000266736 chr17 27019527 27047934 - GTF2IP6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266738 chr2 19348429 19348505 + MIR4757 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616307 0 0 0 0 0 0 0 0 0 ENSG00000266740 chr14 65335117 65335183 - MIR4708 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616176 0 0 0 0 0 0 0 0 0 ENSG00000266743 chr18 76173304 76177738 - AC103808.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266744 chr17 13957748 13966952 - AC005304.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266745 chr3 20137565 20137641 + MIR3135A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422901 0 1 0 1 0 0 1 2 0 ENSG00000266746 chr17 22411893 22412229 - AC209154.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266750 chr6 2854031 2854107 - MIR4645 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616285 1 0 2 2 2 0 0 0 0 ENSG00000266751 chr5 134225757 134225852 + MIR3661 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500905 377 353 465 119 160 149 115 168 156 ENSG00000266754 chr10 103974515 103974814 - RN7SL524P misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000266756 chr8 102125432 102125515 + MIR5680 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847001 0 0 0 0 0 0 0 0 0 ENSG00000266758 chr16 29599179 29599265 - MIR3680-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847041 0 0 0 0 1 0 3 1 0 ENSG00000266760 chr6 90312742 90312833 + MIR4464 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616109 0 0 0 0 0 0 0 0 0 ENSG00000266761 chr20 51452905 51452977 - MIR3194 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422889 0 0 0 0 0 0 0 0 0 ENSG00000266765 chr17 73894749 73911878 - AC137735.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266767 chr18 7741310 7754831 - AP000897.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266770 chr19 13815062 13815319 - RN7SL619P misc_RNA 2 0 0 0 1 0 0 0 2 ENSG00000266771 chr17 27675894 27675997 - AC015688.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266774 chr18 75432703 75436957 - AC116003.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266775 chr17 30557732 30558502 - AC011840.4 antisense 0 2 0 0 0 0 2 2 0 ENSG00000266776 chr6 31701029 31701091 - MIR4646 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616230 0 0 0 0 0 0 0 0 0 ENSG00000266777 chr17 32039974 32042828 + SH3GL1P1 transcribed_processed_pseudogene 26 35 52 38 39 38 37 23 31 ENSG00000266780 chr3 75214476 75214549 + MIR4444-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846999 0 0 0 0 0 0 0 0 0 ENSG00000266782 chr10 117167678 117167774 - MIR3663 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500893 0 0 0 0 0 0 0 0 0 ENSG00000266783 chr18 2561172 2562220 - AP005136.2 sense_intronic 5 3 6 8 4 6 1 4 6 ENSG00000266786 chr17 27746132 27754954 + LGALS9DP unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000266794 chr7 92971002 92971299 - RN7SL7P misc_RNA 0 0 0 0 0 0 0 2 0 ENSG00000266801 chr16 68933820 68937725 + AC009137.2 sense_intronic 0 0 0 6 0 0 0 0 0 ENSG00000266802 chr1 23057858 23057934 - MIR4419A miRNA 0 0 0 0 0 0 0 0 0 ENSG00000266803 chr17 16557985 16559269 - AC127540.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266805 chr18 9506242 9509726 + AP005432.1 sense_intronic 9 3 3 2 4 2 2 2 10 ENSG00000266806 chr17 22331597 22332410 + AC087575.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266807 chr6 131792172 131792231 + MIR548H5 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616455 0 0 0 0 0 0 0 0 0 ENSG00000266808 chr2 184378975 184379044 + MIR548AE1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616305 0 0 0 0 0 0 0 0 0 ENSG00000266809 chr18 24689914 24690161 - PPIAP57 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266818 chr18 15254418 15271744 + AP005901.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266820 chr17 64749918 64758603 - KPNA2P3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266821 chr17 47879472 47882398 - AC018521.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266824 chr17 8176812 8182812 + AC129492.4 lincRNA 8 12 5 11 6 16 14 5 1 ENSG00000266826 chr17 58660424 58692018 - AC011195.2 protein_coding 0 0 0 0 0 0 4 0 0 ENSG00000266827 chr9 134850570 134850641 - MIR3689E miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616460 0 0 0 0 0 0 0 0 0 ENSG00000266828 chrX 115992466 115992773 - RN7SL712P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266830 chr17 28246454 28248006 - AC061975.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266835 chr18 3466250 3478978 + GAPLINC lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266839 chr17 20323058 20323337 + AC008088.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266840 chr18 69704978 69724975 - AC068254.1 antisense 0 0 0 1 0 0 0 0 3 ENSG00000266844 chr18 76974690 76984162 + AC093330.1 antisense 68 64 67 192 295 208 203 170 187 ENSG00000266846 chr18 6025091 6082455 + AP001021.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266850 chr18 22723491 22907721 - AC090912.2 antisense 101927571 0 0 0 0 0 0 0 0 0 ENSG00000266852 chr10 104268336 104268405 - MIR4482 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616323 8 11 9 3 0 2 2 1 0 ENSG00000266853 chr17 27612588 27613251 - ITM2BP1 processed_pseudogene 1 2 1 0 11 4 4 7 2 ENSG00000266855 chr9 91636251 91636361 + MIR3910-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500821 0 0 0 0 0 0 0 0 0 ENSG00000266858 chr17 67774591 67777324 - RPSAP67 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266863 chr9 6661651 6661942 + RN7SL123P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266865 chr17 31008497 31093127 + AC138207.8 transcribed_unprocessed_pseudogene 6 8 2 15 28 19 12 15 13 ENSG00000266869 chr14 71848606 71908430 + AC005993.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266872 chr17 27625484 27626438 - AC015688.6 antisense 70 223 185 109 360 269 110 233 213 ENSG00000266875 chr6 134133573 134133868 + RN7SL408P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000266876 chr17 30068632 30069631 + AC104996.2 transcribed_processed_pseudogene 2 1 1 0 0 0 0 1 0 ENSG00000266877 chr17 31583162 31637543 + AC007923.4 lincRNA 0 0 1 0 3 0 0 0 0 ENSG00000266885 chr17 22435390 22439033 + AC132825.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266887 chr22 48780295 48780353 + MIR4535 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616415 0 0 0 0 0 0 0 0 0 ENSG00000266890 chr5 174751734 174751787 + MIR4634 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616202 0 0 0 0 0 0 0 0 0 ENSG00000266891 chr18 9734882 9735602 - AP000902.1 processed_pseudogene 21 18 37 39 63 163 56 69 85 ENSG00000266893 chr19 28491864 28632728 - AC005394.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266896 chr6 169770413 169772042 + AL354892.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266897 chr19 13131571 13132410 + AC005546.1 lincRNA 2 0 0 1 3 3 0 1 2 ENSG00000266899 chr19 33360497 33361448 - AKR1B1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266900 chr18 62245810 62247412 + AC027514.1 sense_intronic 7 10 4 2 7 16 9 6 13 ENSG00000266901 chr18 79702721 79703651 - AC068473.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266903 chr19 44632199 44718759 - AC243964.2 antisense 4 4 8 2 1 3 0 2 3 ENSG00000266904 chr19 19757366 19776423 - LINC00663 lincRNA 0 3 8 1 2 8 3 3 7 ENSG00000266905 chr18 48962951 48963941 - AC114684.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000266906 chr19 27983032 27983332 - AC005357.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266907 chr19 56319790 56322310 - AC006116.1 processed_pseudogene 1 9 16 0 2 2 1 0 0 ENSG00000266908 chr20 5499116 5502881 + AL109935.2 lincRNA 2 1 2 2 1 0 1 0 2 ENSG00000266909 chr18 80077707 80078259 + SLC25A6P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266910 chr19 30037423 30038181 + AC008507.1 processed_pseudogene 0 0 2 4 0 3 0 0 0 ENSG00000266913 chr19 14305458 14370196 - LINC01841 lincRNA 105372288 14 9 26 14 8 10 6 14 17 ENSG00000266915 chr18 60519841 60520165 + MRPS5P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266916 chr19 37497159 37507046 - ZNF793-AS1 antisense 101927720 0 1 0 1 0 0 6 0 0 ENSG00000266918 chr17 45531577 45533838 + AC091132.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000266919 chr17 30117079 30117172 - AC104984.5 sense_intronic 0 0 0 0 1 0 0 1 0 ENSG00000266920 chr18 62442028 62443126 + ACTBP9 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000266921 chr19 43996896 44002836 - AC006213.1 antisense 101928063 36 49 37 16 32 30 31 19 10 ENSG00000266922 chr19 11725961 11730783 - AC008543.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266923 chr12 92421531 92483680 + AC063949.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266924 chr18 79787121 79791432 + AC021594.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000266925 chr17 20507413 20508931 - AC015818.8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266928 chr19 28294093 28313500 - AC020905.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266929 chr17 42536510 42562062 + AC067852.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000266931 chr2 87055658 87076060 - AC092651.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266932 chr19 56342432 56343419 - AC006116.2 transcribed_processed_pseudogene 0 1 0 0 0 0 3 0 0 ENSG00000266933 chr19 490046 507833 - AC005775.1 antisense 12 6 18 8 14 35 28 24 12 ENSG00000266934 chr17 61382785 61384680 + AC005746.1 sense_intronic 5 6 10 7 15 23 20 20 2 ENSG00000266936 chr19 11010917 11016011 - AC011442.1 antisense 0 0 0 0 0 0 0 1 2 ENSG00000266938 chr19 2896625 2897222 - AC119403.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266941 chr19 5899895 5901511 + AC024592.1 antisense 2 1 0 4 1 0 2 0 0 ENSG00000266943 chr17 60564740 60565671 - RPSAP66 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266944 chr19 3130717 3131398 + AC005262.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266946 chr18 58690356 58692153 + MRPL37P1 processed_pseudogene 0 0 1 1 2 3 1 0 0 ENSG00000266947 chr17 35231450 35242963 - AC022916.1 antisense 2 4 4 8 7 9 6 2 10 ENSG00000266950 chr19 9793621 9802301 + AC008752.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000266951 chr19 15613247 15614553 - AC093072.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266952 chr18 64181314 64260055 - LINC01538 lincRNA 400654 0 0 0 0 0 0 0 0 0 ENSG00000266953 chr19 34396315 34409364 + AC092073.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000266954 chr18 13644815 13645685 - AP001010.1 antisense 2 4 14 18 16 23 10 13 10 ENSG00000266955 chr18 11993988 11994938 - AP001269.1 antisense 0 0 1 1 0 8 0 0 6 ENSG00000266957 chr18 47077361 47091280 - AC012254.1 antisense 2 0 0 5 1 1 1 2 0 ENSG00000266958 chr19 45187388 45216933 + AC005779.1 antisense 0 0 1 0 0 0 0 6 0 ENSG00000266959 chr19 3568120 3568273 - AC005786.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266961 chr18 12738965 12750068 - AP005482.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266962 chr17 42552436 42554748 - AC067852.2 antisense 108783654 114 70 83 27 98 55 71 49 48 ENSG00000266963 chr19 38361795 38362484 - AC005625.1 antisense 1 0 1 2 0 3 0 0 0 ENSG00000266964 chr19 35138808 35143109 + FXYD1 protein_coding This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008]. 5348 GO:0042383, GO:0030315, GO:0016324, GO:0014704, GO:0005901, GO:0005890, GO:0005887, GO:0005886, sarcolemma, T-tubule, apical plasma membrane, intercalated disc, caveola, sodium:potassium-exchanging ATPase complex, integral component of plasma membrane, plasma membrane, GO:0099106, GO:0044325, GO:0017080, GO:0017080, GO:0005254, ion channel regulator activity, ion channel binding, sodium channel regulator activity, sodium channel regulator activity, chloride channel activity, GO:2000649, GO:2000649, GO:1903779, GO:1903278, GO:1902476, GO:0086036, GO:0034220, GO:0010734, GO:0008016, GO:0006936, GO:0006821, GO:0006814, GO:0006813, regulation of sodium ion transmembrane transporter activity, regulation of sodium ion transmembrane transporter activity, regulation of cardiac conduction, positive regulation of sodium ion export across plasma membrane, chloride transmembrane transport, regulation of cardiac muscle cell membrane potential, ion transmembrane transport, negative regulation of protein glutathionylation, regulation of heart contraction, muscle contraction, chloride transport, sodium ion transport, potassium ion transport, 1 0 0 0 0 0 0 0 0 ENSG00000266965 chr18 35595901 35597599 + AC090220.1 sense_intronic 0 0 1 0 0 0 0 1 0 ENSG00000266967 chr17 42950526 42964498 - AARSD1 protein_coding 80755 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0005524, GO:0004813, GO:0003676, GO:0003674, GO:0002196, metal ion binding, ATP binding, alanine-tRNA ligase activity, nucleic acid binding, molecular_function, Ser-tRNA(Ala) hydrolase activity, GO:0106074, GO:0008150, GO:0006450, GO:0006419, aminoacyl-tRNA metabolism involved in translational fidelity, biological_process, regulation of translational fidelity, alanyl-tRNA aminoacylation, 0 2 2 1 0 0 0 0 2 ENSG00000266968 chr18 45646153 45647937 + AC023421.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000266969 chr18 12984694 12991173 - AP002449.1 antisense 4 4 2 10 3 3 4 0 2 ENSG00000266970 chr17 78360453 78373911 + AC061992.1 lincRNA 101928674 32 20 25 66 34 78 43 49 84 ENSG00000266971 chr19 156279 157215 - OR4F8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266973 chr19 36378028 36378832 + AC092296.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000266975 chr19 12930522 12933296 + FARSA-AS1 antisense 106144598 0 2 4 0 7 4 4 2 0 ENSG00000266976 chr19 28606688 28615229 + AC079466.1 lincRNA 102724908 0 0 0 0 0 0 0 0 0 ENSG00000266977 chr19 27849730 27889222 - AC006504.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266978 chr19 10252268 10285108 - AC011511.2 antisense 243 273 490 450 500 1062 628 484 913 ENSG00000266979 chr17 44646364 44650349 - LINC01180 lincRNA 101927017 0 0 0 0 0 0 0 0 0 ENSG00000266980 chr17 75818815 75820055 - AC087289.1 antisense 51 59 56 123 106 193 191 91 96 ENSG00000266981 chr17 35188522 35191343 + AC022916.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000266983 chr19 5978403 6020363 + AC011444.1 antisense 100128568 7 7 5 17 38 19 21 29 26 ENSG00000266984 chr18 48478561 48479228 + POLR3GP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266985 chr19 33555568 33557470 + AC010485.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000266987 chr17 30144062 30144790 - AC104984.6 antisense 0 1 0 0 0 0 0 0 0 ENSG00000266988 chr18 45483345 45529855 + AC021517.1 sense_intronic 112268408 0 0 0 0 0 0 0 0 0 ENSG00000266989 chr19 3870991 3872107 + FTLP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000266990 chr19 999796 1002757 - AC004528.1 antisense 1 1 0 0 1 0 0 0 0 ENSG00000266992 chr17 59976009 60002384 - DHX40P1 transcribed_unprocessed_pseudogene 5 0 0 0 0 0 1 0 3 ENSG00000266993 chr1 51793934 51799154 + AL050343.1 antisense 88 64 93 69 121 109 88 50 57 ENSG00000266994 chr16 4730115 4752565 - AC020663.1 processed_transcript 0 0 0 2 0 0 0 0 0 ENSG00000266995 chr18 12040101 12040300 - AP001542.1 processed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000266997 chr18 49795793 49837623 - AC090227.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000266998 chr17 77373818 77377236 - AC111182.1 antisense 4 1 6 12 1 12 1 5 13 ENSG00000267000 chr18 59459072 59465682 + AC016229.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267001 chr19 2717769 2740048 - AC006538.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267002 chr17 43148368 43171037 - AC060780.1 lincRNA 191 228 247 174 259 263 168 210 233 ENSG00000267004 chr19 12725517 12725886 - AC018761.1 lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000267005 chr19 36173406 36173853 - AC002984.1 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000267006 chr19 30028741 30029916 - AC008507.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000267007 chr19 1815249 1815873 + AC012615.2 antisense 76 82 74 117 97 98 76 75 100 ENSG00000267009 chr17 68413623 68524949 + AC007780.1 processed_transcript 31 39 53 37 64 86 31 27 48 ENSG00000267011 chr19 4457962 4471493 - AC011498.1 lincRNA 0 1 2 0 0 0 0 0 0 ENSG00000267012 chr19 31886704 31908284 - AC011456.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267013 chr18 55105904 55124306 - LINC01929 lincRNA 101927229 0 0 0 0 0 0 0 0 0 ENSG00000267014 chr19 29002555 29013955 + LINC01532 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267015 chr18 79340258 79343972 - AC023090.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267016 chr17 77469162 77472770 - AC111170.1 antisense 3 6 2 5 5 12 4 0 5 ENSG00000267019 chr19 49025461 49026020 - NTF6A unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267022 chr19 44025354 44087318 + AC067968.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267023 chr17 68125777 68152468 - LRRC37A16P transcribed_unprocessed_pseudogene 146 192 190 181 186 225 233 186 171 ENSG00000267024 chr19 34426112 34428273 - AC008747.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267026 chr9 98847172 98872415 - AL136084.2 antisense 102724684 3 4 8 13 3 15 2 0 10 ENSG00000267027 chr19 28949437 28950200 - AC011524.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267028 chr18 55452533 55482940 + TCF4-AS1 antisense 105372127 0 0 0 0 0 0 0 0 0 ENSG00000267030 chr19 4447304 4448217 + AC011498.2 antisense 11 20 9 13 24 21 18 7 15 ENSG00000267032 chr18 13151637 13152689 - AP001357.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267033 chr19 16186276 16189458 - AC020911.1 antisense 5 14 20 8 8 13 4 7 8 ENSG00000267034 chr2 222317242 222318653 - AC010980.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000267035 chr17 35540039 35540797 - AC015911.2 lincRNA 4 1 0 3 9 11 3 9 4 ENSG00000267036 chr19 590430 591300 - AC005559.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267038 chr18 61681653 61682695 + AC105094.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267039 chr18 36901946 36923814 - AC016493.1 antisense 105372069 0 0 0 0 0 0 0 0 0 ENSG00000267040 chr18 57630302 57669296 + AC027097.1 antisense 100505549 8 2 6 15 15 30 12 4 2 ENSG00000267041 chr19 36714383 36772825 - ZNF850 protein_coding 342892 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 2 9 7 4 8 10 8 3 10 ENSG00000267042 chr17 42679963 42682020 + AC100793.2 antisense 2 2 2 4 5 2 0 0 0 ENSG00000267044 chr19 45135993 45136977 - AC005757.1 antisense 0 1 0 0 1 0 0 0 0 ENSG00000267046 chr17 35490009 35491238 + E2F3P1 processed_pseudogene 4 2 10 17 3 39 11 2 22 ENSG00000267047 chr17 6985494 7019414 - AC040977.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267048 chr16 89906157 89918233 + AC092143.3 processed_transcript 1 5 3 0 5 3 3 0 0 ENSG00000267049 chr19 35769144 35771028 - AC002398.1 antisense 16 14 20 9 39 25 15 12 15 ENSG00000267051 chr18 11366913 11378409 - AP005229.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267052 chr7 106569876 106598908 - AC005050.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000267053 chr19 36304580 36312668 + AC012617.1 lincRNA 0 2 1 0 0 0 0 0 0 ENSG00000267054 chr19 33178056 33178651 + AC008738.1 sense_intronic 0 0 0 1 2 0 0 0 0 ENSG00000267055 chr7 20096137 20130475 + AC007001.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267056 chr19 15910582 15911824 - AC005336.1 processed_pseudogene 1 0 0 1 0 2 0 1 0 ENSG00000267057 chr18 56042135 56096319 + LINC01905 lincRNA 102724698 0 0 0 0 0 0 0 0 0 ENSG00000267058 chr19 43891804 43901805 - AC006213.2 lincRNA 100505715 0 0 0 1 0 0 1 2 2 ENSG00000267059 chr19 1578339 1605445 - AC005943.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267060 chr17 42968088 42980433 - PTGES3L protein_coding 100885848 GO:0005829, GO:0005634, cytosol, nucleus, GO:0051879, GO:0051087, Hsp90 protein binding, chaperone binding, GO:0051131, GO:0006457, chaperone-mediated protein complex assembly, protein folding, 0 0 0 0 0 0 1 0 0 ENSG00000267061 chr18 59563709 59568615 + AC090213.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267062 chr19 12796823 12801849 + AC018761.2 antisense 5 6 10 39 8 34 20 20 30 ENSG00000267063 chr19 2847227 2858716 - AC006130.1 antisense 0 0 0 3 3 0 0 0 0 ENSG00000267064 chrX 47658833 47660377 + UXT-AS1 antisense 100133957 82 44 80 89 86 134 107 73 91 ENSG00000267065 chr17 76799044 76807102 + LINC02080 lincRNA 101928514 1 0 0 0 0 0 0 1 3 ENSG00000267066 chr18 59929226 59930330 + AC107990.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267069 chr18 12288308 12291488 + AP005264.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267070 chr16 5098739 5142595 + AC026458.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267072 chr16 5010909 5043999 + NAGPA-AS1 lincRNA 1 2 0 3 0 2 0 1 1 ENSG00000267073 chr19 1748056 1748745 + AC005256.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267074 chr17 35499690 35510270 - AC015911.3 sense_intronic 9 6 21 41 2 31 28 4 22 ENSG00000267075 chr17 20545371 20549952 + AC015818.9 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267076 chr18 12211378 12211807 + CCDC58P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267077 chr16 4795265 4796532 - AC020663.2 antisense 0 0 1 0 0 3 2 0 1 ENSG00000267078 chr17 76569792 76571240 + AC015802.1 antisense 203 158 210 112 178 224 181 124 236 ENSG00000267079 chr18 11910634 11914344 - AP001269.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267080 chr17 44175973 44186717 - ASB16-AS1 antisense 339201 57 78 63 26 61 77 47 41 56 ENSG00000267081 chr19 30850975 30872507 + AC011507.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267082 chr19 11203628 11216168 + AC011472.1 antisense 105372273 0 0 0 0 0 2 1 0 2 ENSG00000267083 chr17 60810165 60811462 + KRT18P61 processed_pseudogene 6 4 4 0 4 8 0 5 3 ENSG00000267084 chr17 76595584 76595772 - AC015802.2 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000267085 chr9 65222522 65222777 - AL512605.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267088 chr18 42089312 42089752 + AC087683.1 processed_pseudogene 1 1 0 1 4 5 0 1 0 ENSG00000267089 chr19 11841241 11842439 - AC008543.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267090 chr19 38385522 38386759 + AC005789.1 antisense 0 0 0 1 4 8 4 2 0 ENSG00000267091 chr19 36496916 36498159 - CTBP2P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267092 chr19 1508375 1508963 + AC027307.1 antisense 0 0 0 0 0 0 1 0 5 ENSG00000267095 chr17 60135762 60140081 - AC025048.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000267096 chr19 55670632 55672069 + AC008735.1 sense_intronic 0 4 1 9 11 13 4 4 4 ENSG00000267097 chr18 45423764 45483218 - SLC14A2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267098 chr18 60630167 60902726 - AC113137.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267099 chr19 49029726 49030341 + NTF6G unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267100 chr19 10651862 10653844 - ILF3-DT lincRNA 147727 75 99 103 255 200 203 200 133 164 ENSG00000267101 chr18 45130565 45181379 - AC090376.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267102 chr17 35409602 35410228 - AC060766.1 transcribed_processed_pseudogene 8 18 0 3 23 8 14 15 6 ENSG00000267104 chr17 59962363 60018975 - TBC1D3P1-DHX40P1 processed_transcript This locus represents naturally-occurring readthrough transcription that extends through two unprocessed pseudogenes, TBC1D3P1 (TBC1 domain family member 3 pseudogene 1) and DHX40P1 (DEAH-box helicase 40 pseudogene 1), to protein-coding RNFT1 (ring finger protein, transmembrane 1). The individual pseudogene loci are not curated as transcribed regions. The readthrough transcript likely does not encode a functional protein, since translation of the long open reading frames would render the transcript a candidate for nonsense-mediated decay (NMD). [provided by RefSeq, Jan 2016]. 653645 0 0 0 0 0 0 0 0 0 ENSG00000267105 chr19 10259109 10260045 - AC011511.3 antisense 1 2 5 5 3 2 5 5 7 ENSG00000267106 chr19 9621291 9645896 + ZNF561-AS1 processed_transcript 5 5 14 7 3 6 5 3 7 ENSG00000267107 chr19 41454169 41500649 - PCAT19 lincRNA 100505495 0 0 0 1 1 0 0 0 0 ENSG00000267108 chr18 12432897 12437635 + AP001029.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267109 chr17 70312831 70368916 - AC011990.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267110 chr19 55154757 55160671 - AC010327.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267112 chr18 54885866 54898083 - AC098848.1 antisense 0 1 1 3 1 0 0 3 0 ENSG00000267113 chr19 35957121 35957382 - AF038458.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267114 chr19 44950044 44954007 - AC011481.1 lincRNA 1 0 1 4 0 0 1 0 0 ENSG00000267115 chr19 37503906 37504465 - AC022148.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267116 chr18 12192203 12192934 - AP005264.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267117 chr19 55694118 55694558 - AC010525.1 antisense 4 7 4 3 17 3 2 6 3 ENSG00000267119 chr19 9820141 9820455 + RPL10P15 processed_pseudogene 0 0 0 0 0 10 0 0 0 ENSG00000267120 chr19 35739252 35745432 - AD000671.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267121 chr17 45190931 45222222 - AC008105.3 antisense 339192 1783 1499 2605 684 804 794 663 670 793 ENSG00000267122 chr19 2212029 2215565 - AC004490.1 antisense 40 50 140 21 13 23 12 6 22 ENSG00000267123 chr17 78605233 78632155 - LINC02081 lincRNA 101928710 2 7 0 3 8 8 5 6 5 ENSG00000267124 chr19 305573 306467 + AC016588.1 antisense 2 3 6 7 2 5 6 4 4 ENSG00000267125 chr19 1852382 1853622 + AC012615.3 antisense 153 196 188 65 165 111 120 145 82 ENSG00000267127 chr18 80034346 80097088 + AC090360.1 protein_coding 1 0 1 0 2 0 2 0 0 ENSG00000267128 chr17 76140556 76154650 + RNF157-AS1 antisense 10 5 13 40 4 24 28 10 23 ENSG00000267129 chr17 3377527 3377602 - OR1AC1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267130 chr19 33305036 33309387 + AC008738.2 lincRNA 0 0 0 0 0 0 0 0 4 ENSG00000267131 chr17 61361668 61400243 - AC005746.2 antisense 101927855 0 2 0 0 1 1 1 3 0 ENSG00000267132 chr17 42648178 42648738 + HMGB3P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267133 chr19 32103583 32106537 + AC011518.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267134 chr18 64041555 64423601 + LINC01924 lincRNA 284294 0 0 0 0 0 0 0 0 0 ENSG00000267135 chr19 15611623 15611909 - AD000091.1 processed_pseudogene 0 0 1 3 0 4 0 2 0 ENSG00000267136 chr18 13514520 13522888 - AP005131.1 antisense 1 10 1 4 7 11 28 1 20 ENSG00000267137 chr17 61460224 61463384 - AC005901.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267138 chr19 3754620 3756659 - AC005954.1 sense_intronic 5 9 6 3 5 0 2 4 1 ENSG00000267139 chr19 3118665 3119304 - AC005262.2 antisense 0 1 0 0 1 0 0 0 1 ENSG00000267140 chr18 35443871 35497940 - AC007998.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267141 chr19 1860250 1862019 + AC012615.4 antisense 4 6 2 10 10 3 8 17 7 ENSG00000267142 chr19 36421536 36422534 + AC092296.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267143 chr18 11620717 11621158 - AP001120.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267144 chr19 44023604 44025262 - AC067968.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267145 chr19 56338288 56338648 - AC006116.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267146 chr18 56872668 56873970 - AC012301.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267147 chr19 14333743 14343916 + LINC01842 lincRNA 101928845 0 0 0 0 0 0 0 0 0 ENSG00000267148 chr19 3775996 3776182 - AC005777.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267149 chr19 55027593 55053928 - AC011476.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000267150 chr18 14089935 14091019 + AC006557.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267151 chr17 43444707 43451200 + MIR2117HG lincRNA 106660605 0 0 0 0 0 0 0 0 0 ENSG00000267152 chr19 37728586 37730643 - AC093227.1 lincRNA 2 3 9 7 3 4 3 1 4 ENSG00000267153 chr18 60663115 60664369 + CTBP2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267154 chr19 9083112 9083398 - OR1M4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267156 chr18 47630112 47630848 + TPMTP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267157 chr19 5784005 5785619 - AC011499.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267159 chr19 928259 928817 - AC005379.1 antisense 4 0 0 1 1 8 3 2 9 ENSG00000267160 chr17 44673689 44676257 - AC091152.2 antisense 0 0 2 7 27 13 2 9 8 ENSG00000267162 chr18 12101997 12102470 - SDHDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267165 chr18 11851414 11852751 - CHMP1B-AS1 antisense 1181 1112 1020 607 1083 972 844 1114 844 ENSG00000267166 chr17 43922775 43927388 - AC007993.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267168 chr17 76732978 76738522 + AC005837.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267169 chr19 14137179 14171267 + AC022098.1 antisense 100507373 49 55 73 50 85 82 84 93 68 ENSG00000267170 chr17 70241324 70241761 + CALM2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267172 chr18 55817167 55819759 + AC022031.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267173 chr19 44329695 44401608 - AC245748.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267174 chr19 11300777 11324441 - AC011472.2 3prime_overlapping_ncRNA 643 396 1346 234 502 670 399 441 641 ENSG00000267175 chr18 61592375 61748832 - AC105094.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267177 chr18 13234945 13236470 - AP002505.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267178 chr19 19588091 19588415 - PHF5CP processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000267179 chr19 11925075 11979290 + AC008770.2 protein_coding 0 1 0 4 1 1 2 3 3 ENSG00000267180 chr19 2030853 2031051 - AC007136.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267182 chr16 5289200 5289409 - SNRPCP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267184 chr17 69707193 69707373 - AC002545.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267185 chr17 42533532 42534009 + PTP4A2P1 processed_pseudogene 2 1 1 2 0 3 5 0 0 ENSG00000267187 chr18 47703175 47703745 + AC026898.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267188 chr19 44392439 44448452 - AC245748.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000267189 chr17 42647834 42648143 + ATP5MGP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267190 chr19 35683778 35684201 - TYMSP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267191 chr19 43902001 43926545 + AC006213.3 antisense 0 1 0 0 0 0 0 0 0 ENSG00000267192 chr19 56387412 56388424 + AC006116.4 antisense 0 0 1 2 0 0 0 1 1 ENSG00000267193 chr18 45669367 45747215 - AC023421.2 antisense 1 1 1 2 1 0 0 0 2 ENSG00000267195 chr17 2050271 2050380 - MIR212 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406994 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1903609, GO:1902083, GO:0051001, GO:0045747, GO:0045019, GO:0043537, GO:0035278, GO:0035195, GO:0035195, GO:0033137, GO:0016525, GO:0010629, GO:0010628, GO:0007179, negative regulation of inward rectifier potassium channel activity, negative regulation of peptidyl-cysteine S-nitrosylation, negative regulation of nitric-oxide synthase activity, positive regulation of Notch signaling pathway, negative regulation of nitric oxide biosynthetic process, negative regulation of blood vessel endothelial cell migration, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of peptidyl-serine phosphorylation, negative regulation of angiogenesis, negative regulation of gene expression, positive regulation of gene expression, transforming growth factor beta receptor signaling pathway, 0 0 0 9 20 16 7 7 7 ENSG00000267196 chr18 49969721 49970957 - AC091044.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000267197 chr19 10490339 10491000 - AC011461.1 sense_intronic 0 0 5 3 0 7 1 0 0 ENSG00000267198 chr17 45545804 45563230 + AC091132.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267199 chr18 12438890 12448205 + AP001029.2 antisense 0 1 2 2 0 0 0 0 0 ENSG00000267200 chr17 2049908 2050008 - MIR132 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406921 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000353, GO:1905564, GO:1905563, GO:1903589, GO:1902083, GO:0090050, GO:0055089, GO:0051897, GO:0051001, GO:0045766, GO:0045019, GO:0043537, GO:0042632, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0033137, GO:0010629, GO:0010628, GO:0008284, positive regulation of endothelial cell apoptotic process, positive regulation of vascular endothelial cell proliferation, negative regulation of vascular endothelial cell proliferation, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of peptidyl-cysteine S-nitrosylation, positive regulation of cell migration involved in sprouting angiogenesis, fatty acid homeostasis, positive regulation of protein kinase B signaling, negative regulation of nitric-oxide synthase activity, positive regulation of angiogenesis, negative regulation of nitric oxide biosynthetic process, negative regulation of blood vessel endothelial cell migration, cholesterol homeostasis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of peptidyl-serine phosphorylation, negative regulation of gene expression, positive regulation of gene expression, positive regulation of cell population proliferation, 0 0 0 36 24 16 16 9 24 ENSG00000267201 chr19 2458935 2462185 - LINC01775 lincRNA 101928602 0 0 0 0 0 0 0 0 0 ENSG00000267202 chr18 37273706 37276572 + AC090386.1 antisense 105372068 0 0 0 0 0 0 0 0 0 ENSG00000267203 chr17 69318733 69318961 + SNRPGP4 processed_pseudogene 1 0 6 1 1 2 3 3 0 ENSG00000267204 chr19 32102088 32105916 - LINC01782 lincRNA 101927411 0 0 0 0 0 0 0 0 0 ENSG00000267205 chr19 3753840 3756517 + AC005954.2 antisense 35 36 47 21 37 29 24 22 26 ENSG00000267206 chr9 136744011 136748528 - LCN6 protein_coding 158062 GO:0005576, extracellular region, GO:0036094, small molecule binding, GO:0007338, single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000267207 chr17 61034636 61070122 - AC005884.1 antisense 23 35 27 7 19 22 14 17 12 ENSG00000267209 chr18 57961231 57964434 - LINC01897 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267211 chr17 44328613 44331462 + AC003043.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267212 chr19 12784539 12785101 - AC018761.3 lincRNA 4 2 2 23 8 20 11 8 16 ENSG00000267213 chr19 32390050 32405560 - AC007773.1 antisense 400684 2 0 0 4 0 6 1 0 1 ENSG00000267214 chr19 2631954 2632849 + AC092068.1 antisense 1 9 1 10 4 6 2 6 1 ENSG00000267215 chr18 59081924 59084981 + AC040963.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267216 chr19 58278966 58315197 + AC020915.1 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring ZNF8 (zinc finger protein 8) and ERVK3-1 (endogenous retrovirus group K3, member 1) genes on chromosome 19. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product [provided by RefSeq, Oct 2016]. 108903150 8 11 11 3 13 13 4 9 14 ENSG00000267218 chr19 15902300 15903238 - AC005336.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267219 chr19 34348356 34359412 - AC010504.1 antisense 0 2 5 5 5 2 7 3 9 ENSG00000267220 chr19 20131894 20151908 - AC011447.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267221 chr17 42038232 42050614 - C17orf113 protein_coding 110806298 GO:0016021, integral component of membrane, 0 0 0 2 0 0 0 3 0 ENSG00000267222 chr17 42495867 42496550 + AC107993.1 sense_intronic 5 3 2 1 3 6 0 1 0 ENSG00000267223 chr19 30219666 30228715 - AC005597.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267224 chr19 56535299 56535763 + AC005498.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267225 chr18 57027832 57038845 + WDR7-OT1 sense_overlapping 0 0 0 0 0 0 1 0 0 ENSG00000267226 chr18 58670009 58671877 - AC104971.1 bidirectional_promoter_lncRNA 101927322 17 11 15 26 15 22 11 18 28 ENSG00000267227 chr17 15748703 15749315 - AC005324.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267228 chr18 47108188 47176345 - AC012254.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267231 chr19 3558015 3558486 + AC005786.2 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000267232 chr19 1875016 1875992 + AC012615.5 lincRNA 29 32 25 40 44 50 40 36 63 ENSG00000267233 chr18 50814392 50815730 + HNRNPA3P16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267234 chr19 19401979 19402603 - AC092067.1 antisense 2 6 2 4 0 0 1 2 0 ENSG00000267235 chr19 15821796 15823797 - ZNF861P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267238 chr19 28394851 28396428 - AC093074.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267239 chr18 13203774 13216367 - AP001198.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267240 chr19 28960506 28964943 - AC011524.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267241 chr19 15664106 15669826 + CYP4F10P unprocessed_pseudogene 0 5 8 7 3 0 3 0 9 ENSG00000267243 chr19 28437060 28535277 - AC005381.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267244 chr19 1822089 1824542 + AC012615.6 processed_transcript 146 172 151 75 137 89 111 87 66 ENSG00000267245 chr19 32824142 32824505 - AC008805.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267246 chr17 45549781 45558738 - AC091132.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000267247 chr18 12230411 12231573 - AP005264.3 lincRNA 0 0 0 0 1 0 0 0 1 ENSG00000267248 chr17 60126535 60135644 - AC025048.2 processed_transcript 0 0 2 3 0 0 2 1 2 ENSG00000267249 chr18 12670426 12671145 - AP005482.3 sense_intronic 2 0 2 2 1 0 0 0 0 ENSG00000267250 chr17 68793549 68797822 - AC011591.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267251 chr18 80183680 80202992 + AC139100.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267252 chr18 11488570 11506983 + LINC01255 lincRNA 101927433 0 0 0 0 0 0 0 0 0 ENSG00000267253 chr17 43718314 43720436 - AC055813.1 processed_pseudogene 1 1 0 0 1 0 0 0 0 ENSG00000267254 chr19 36797518 36828115 + ZNF790-AS1 antisense 284408 1 0 4 7 3 0 5 3 5 ENSG00000267255 chr19 4429689 4430934 - AC011498.3 antisense 7 9 9 10 2 2 5 9 8 ENSG00000267257 chr18 58535415 58538552 + AC105105.1 antisense 1 1 0 2 1 5 2 4 6 ENSG00000267258 chr19 29921182 29921653 + PPIAP58 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267259 chr17 28232590 28235281 - ERVE-1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267260 chr19 36773153 36777078 + AC020928.1 lincRNA 728485 2 1 0 0 0 0 0 0 0 ENSG00000267261 chr17 42119674 42154916 - AC099811.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267262 chr19 6067953 6077119 + AC011444.2 antisense 20 13 9 18 12 18 16 11 23 ENSG00000267263 chr17 77469068 77471045 + AC111170.2 sense_intronic 4 2 3 3 4 5 0 0 1 ENSG00000267264 chr19 27803538 27804060 + AC006504.3 processed_pseudogene 0 0 0 0 2 0 0 1 3 ENSG00000267265 chr19 55006193 55048086 + AC011476.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267269 chr18 59685820 59688400 + AC010776.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267270 chr18 80147924 80178432 + PARD6G-AS1 antisense 100130522 11 13 13 8 15 7 15 10 6 ENSG00000267271 chr17 35344231 35344564 + AC060766.2 processed_pseudogene 1 1 0 0 2 0 0 0 0 ENSG00000267272 chr1 87129765 87169198 + LINC01140 lincRNA 339524 0 1 1 0 3 0 0 0 0 ENSG00000267273 chr19 9498678 9510079 + AC008567.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267274 chr19 11939959 11953381 + AC008770.3 sense_overlapping 6 13 9 10 9 9 2 6 22 ENSG00000267275 chr19 16283359 16324514 - AC020911.2 antisense 1 4 4 7 11 13 7 6 8 ENSG00000267277 chr19 11368123 11374935 - AC024575.1 antisense 8 0 6 0 3 3 10 0 4 ENSG00000267278 chr17 45247925 45268630 + MAP3K14-AS1 antisense 68 73 71 147 199 261 157 148 167 ENSG00000267279 chr18 61585746 61606916 - AC090409.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267280 chr17 61393456 61411555 - TBX2-AS1 antisense 103689912 0 0 1 0 0 0 0 0 0 ENSG00000267281 chr12 53506688 53625979 - AC023509.3 protein_coding 114108587 1 0 0 1 0 5 1 3 0 ENSG00000267282 chr19 44882027 44890876 - AC011481.2 antisense 9 0 11 9 0 10 1 0 0 ENSG00000267283 chr19 1989401 1990370 + AC005306.1 processed_transcript 163 173 271 170 168 187 246 129 122 ENSG00000267284 chr18 55721063 55788761 + AC022031.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267285 chr12 1385833 1386987 + AC004672.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000267286 chr18 13183402 13185617 - AP001198.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267287 chr18 79576460 79589010 + AC068473.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000267288 chr17 45168800 45171584 - AC138150.2 antisense 105371795 27 25 22 16 32 34 35 22 23 ENSG00000267289 chr19 9834079 9835013 - AC008752.2 lincRNA 1 2 0 2 3 1 4 2 8 ENSG00000267291 chr19 38596346 38601694 + AC008649.1 antisense 105372397 9 18 25 39 14 71 45 16 19 ENSG00000267292 chr18 12050309 12050672 - AP001542.2 processed_pseudogene 0 0 0 0 1 0 1 0 0 ENSG00000267293 chr18 46028306 46029829 + AC012569.1 processed_pseudogene 7 7 13 1 2 0 2 5 7 ENSG00000267295 chr17 60113793 60120687 - AC025048.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267296 chr19 33302857 33305054 + CEBPA-DT antisense 80054 0 2 0 0 1 0 0 2 3 ENSG00000267298 chr19 56311928 56312486 - AC006116.5 sense_intronic 0 0 2 1 0 0 0 0 0 ENSG00000267299 chr19 6109322 6125797 + AC011444.3 antisense 0 2 0 1 6 12 0 0 6 ENSG00000267301 chr18 23709825 23710287 - RPL23AP77 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267302 chr17 59964832 59996972 + RNFT1-DT lincRNA 101927755 21 0 1 15 0 4 19 5 3 ENSG00000267303 chr19 10315471 10320678 - AC011511.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267304 chr19 3672582 3674295 + AC004637.1 antisense 0 0 4 2 0 0 3 0 0 ENSG00000267305 chr1 222510169 222519732 - AL592148.2 unprocessed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000267308 chr19 15827045 15835853 - LINC01764 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000267309 chr19 36489649 36491040 + AC092295.2 antisense 728752 2 2 8 4 5 1 2 1 4 ENSG00000267310 chr19 99175 106077 + OR4G1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267311 chr18 54879457 54880809 + AC007673.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267312 chr17 35459481 35460550 - AC015911.4 processed_pseudogene 5 2 7 0 1 7 1 1 0 ENSG00000267313 chr18 41465783 41632185 - KC6 lincRNA 641516 0 0 0 0 0 0 0 0 0 ENSG00000267314 chr19 5904841 5914707 + AC104532.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267315 chr17 35377416 35377678 - AC060766.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267316 chr18 61571342 61579456 - AC090409.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267317 chr19 1457670 1458580 - AC027307.2 antisense 42 59 58 27 68 52 26 47 42 ENSG00000267318 chr17 59940908 59973101 + AC005702.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267319 chr19 37693280 37693564 - SELENOKP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267320 chr19 28316705 28386204 - AC005580.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267321 chr17 35568109 35574843 + LINC02001 lincRNA 111 97 97 42 91 55 34 66 39 ENSG00000267322 chr18 49814023 49851059 + SNHG22 antisense 103091864 2 0 0 0 1 0 1 0 2 ENSG00000267323 chr19 27805423 27806205 - SLC25A1P5 processed_pseudogene 0 0 1 5 1 0 0 1 1 ENSG00000267324 chr18 14143596 14151139 - AC006557.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267325 chr18 55776727 55781721 - LINC01415 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267327 chr18 55893038 56023522 + AC009271.1 lincRNA 107985164 0 0 0 0 0 0 0 0 0 ENSG00000267328 chr19 35754566 35755490 + AC002398.2 antisense 0 0 0 0 1 0 0 0 0 ENSG00000267332 chr19 9019344 9019984 + BOLA3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267333 chr18 11745626 11747581 + ASNSP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267334 chr17 44947912 44948939 + AC015936.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267335 chr19 49022953 49036895 - AC008687.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267336 chr18 12912844 12913906 + EIF4A2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267337 chr18 44323436 44531697 - LINC01478 lincRNA 101927921 0 0 0 0 0 0 0 0 0 ENSG00000267338 chr22 16616170 16617114 + AP000365.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267339 chr19 28965131 28970874 + LINC00906 lincRNA 148145 2 0 2 0 1 3 0 2 0 ENSG00000267340 chr17 43169880 43170077 - AC060780.2 processed_pseudogene 7 9 9 1 11 11 6 6 28 ENSG00000267341 chr18 62372894 62378130 - AC100843.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267342 chr17 75897060 75900148 + AC087289.2 antisense 5 6 7 1 4 7 9 4 13 ENSG00000267343 chr19 11680944 11686259 + ZNF833P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267344 chr17 45396932 45397477 + AC003070.1 antisense 4 7 11 3 3 75 7 9 4 ENSG00000267345 chr19 37075113 37078605 - AC010632.1 antisense 0 0 0 4 1 2 3 0 4 ENSG00000267346 chr19 45128569 45129030 + EIF5AP3 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000267348 chr19 45076510 45090391 - GEMIN7-AS1 antisense 45 34 33 45 36 51 46 49 35 ENSG00000267349 chr17 35477994 35478444 + AC015911.5 antisense 5 1 10 10 4 23 18 7 9 ENSG00000267352 chr17 68134675 68135604 - SH3GL1P3 processed_pseudogene 46 38 52 112 77 117 72 41 61 ENSG00000267353 chr19 36773712 36775908 - AC020928.2 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000267354 chr18 45507202 45550183 + AC091151.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000267355 chr17 78845953 78846868 - RPL9P29 processed_pseudogene 1 0 4 38 44 79 42 20 30 ENSG00000267356 chr18 14104542 14105226 + AC006557.3 antisense 0 0 0 1 1 0 3 2 0 ENSG00000267359 chr17 35553205 35554767 + AC015911.6 antisense 0 1 0 2 0 5 1 0 2 ENSG00000267360 chr19 37093019 37210512 - AC012309.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267361 chr17 69094289 69095499 - SEC24AP1 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000267363 chr19 36379351 36380912 - AC092296.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267364 chr17 35313502 35324900 + AC022706.1 lincRNA 6 5 9 2 6 12 11 7 11 ENSG00000267365 chr17 70166961 70169402 - KCNJ2-AS1 antisense 400617 271 145 492 38 70 49 68 50 57 ENSG00000267366 chr18 13500641 13501289 - AP005131.2 antisense 2 2 1 5 1 6 0 2 5 ENSG00000267368 chr7 102637025 102642791 - UPK3BL1 protein_coding 100134938 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000267369 chr17 35498218 35499175 + AC015911.7 processed_pseudogene 11 12 22 38 4 54 40 11 86 ENSG00000267370 chr19 9756152 9756863 - AC008752.3 unprocessed_pseudogene 1 4 4 0 2 5 4 0 6 ENSG00000267371 chr18 11552366 11552847 + AP001017.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267372 chr19 1321225 1322846 + AC005330.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267373 chr19 16103761 16104254 - AC008894.1 lincRNA 0 4 0 0 3 0 0 1 0 ENSG00000267374 chr18 39206924 39800318 - AC016205.1 lincRNA 647946 2 0 0 0 0 0 0 0 0 ENSG00000267375 chr19 38683873 38693606 - AC008649.2 antisense 0 0 0 4 0 0 0 0 0 ENSG00000267376 chr17 76202644 76202796 - ATP5MGP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267378 chr19 30946582 30957192 + AC020897.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267379 chr19 14402717 14408723 - AC008569.1 antisense 1919 2286 2570 1150 1975 1604 1204 1559 1615 ENSG00000267382 chr18 60611773 60654623 + AC010928.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267383 chr19 20125377 20321305 - AC011447.3 antisense 4 3 3 4 4 7 2 2 10 ENSG00000267384 chr17 44645411 44645587 + SMCO4P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267385 chr19 4528427 4540067 - AC011498.4 protein_coding 30 25 57 48 51 58 40 17 54 ENSG00000267387 chr19 10089032 10090377 - AC020931.1 antisense 95 55 97 74 62 69 74 56 61 ENSG00000267388 chr19 35960512 35964063 + AF038458.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267389 chr19 27892495 27898927 - AC006504.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267390 chr18 63367328 63381629 + AC036176.1 antisense 0 0 1 2 0 7 0 0 0 ENSG00000267391 chr18 58446275 58453766 + MIR122HG lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267392 chr19 15979835 15999020 - CYP4F9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267393 chr18 13362203 13366243 - AP002439.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267394 chr17 44198882 44216565 + AC004596.1 antisense 31 39 43 31 34 59 19 29 28 ENSG00000267395 chr19 45767796 45772504 + DM1-AS antisense 109729182 3 0 9 9 2 6 11 3 14 ENSG00000267396 chr18 58398663 58400082 - AC090236.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267397 chr18 35716370 35717978 + AC090229.1 lincRNA 2 4 1 0 5 0 4 4 0 ENSG00000267398 chr19 2874950 2875592 - AC006130.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267399 chr18 56061109 56063078 - AC006305.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267400 chr18 60495868 60496336 - AC010928.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267401 chr18 60294151 60301118 + AC090621.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267402 chr18 55492175 55496392 + TCF4-AS2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267404 chr18 36273574 36274599 + AC023043.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267405 chr17 44794747 44797783 - AC005180.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267406 chr19 14267807 14269377 - AC011509.1 lincRNA 0 0 0 0 0 2 0 2 0 ENSG00000267407 chr19 31542039 31554797 + AC008794.1 lincRNA 105372360 0 0 0 0 0 0 0 0 0 ENSG00000267408 chr19 4621194 4622307 + AC011498.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267409 chr18 79610747 79612303 + AC068473.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267412 chr19 2610155 2611862 - AC092068.2 sense_intronic 2 5 1 0 3 3 11 1 0 ENSG00000267413 chr18 39841174 39924840 - LINC01901 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267414 chr18 44676927 44679717 - AC120049.1 lincRNA 101927943 3 0 0 0 2 2 1 0 0 ENSG00000267415 chr19 6176256 6176442 - AC011471.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267416 chr17 60079309 60088695 + AC025048.4 lincRNA 105371849 3 6 8 1 4 0 0 3 0 ENSG00000267417 chr19 13013662 13014511 - AC138474.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267418 chr19 9182369 9183048 - ELOCP29 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267419 chr19 19776602 19836073 + AC011477.1 transcribed_unprocessed_pseudogene 25 23 49 28 33 48 27 11 17 ENSG00000267420 chr17 43927563 43932622 + AC007993.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267421 chr19 56536156 56538575 - AC005498.2 lincRNA 101928982 0 0 0 1 0 0 0 0 0 ENSG00000267422 chr19 37779686 37792865 + AC016582.2 transcribed_processed_pseudogene 14 9 17 11 5 25 7 6 10 ENSG00000267423 chr19 28509238 28518728 + AC005616.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267424 chr19 12825711 12832983 + AC020934.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267425 chr18 11454478 11465996 + LINC01928 lincRNA 105371994 0 0 0 0 0 0 0 0 0 ENSG00000267426 chr17 75898645 75930129 - AC087289.3 protein_coding 0 0 1 0 0 0 0 0 0 ENSG00000267428 chr18 54566997 54567303 + AC091135.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267429 chr19 56347081 56348183 - AC006116.6 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000267430 chr18 63415317 63416469 - AC036176.2 processed_pseudogene 4 8 2 67 119 83 83 67 100 ENSG00000267432 chr17 78484882 78503056 + DNAH17-AS1 processed_transcript 0 1 1 0 2 0 0 0 0 ENSG00000267433 chr19 29901696 29901869 - AC008798.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267436 chr19 3544199 3557569 + AC005786.3 antisense 83 118 88 61 77 78 85 43 50 ENSG00000267437 chr19 37128679 37141640 - AC012309.2 antisense 0 0 1 2 3 2 0 3 2 ENSG00000267439 chr19 35747057 35753415 - AD000671.3 antisense 99 98 117 138 161 124 108 132 121 ENSG00000267440 chr17 43680273 43705884 + LINC02594 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267441 chr17 18388871 18389459 + AL353997.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267443 chr19 397589 399173 + AC010641.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267444 chr18 49650350 49651160 + SMUG1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267446 chr17 45371402 45372057 - AC003070.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267448 chr19 3296765 3303003 - AC010649.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267449 chr17 61069856 61070356 - AC005884.2 antisense 0 0 0 1 0 2 0 1 0 ENSG00000267450 chr19 16051929 16052689 + OR1AB1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267452 chr17 51336715 51445802 + LINC02073 lincRNA 105371828 0 0 0 0 0 0 0 0 0 ENSG00000267453 chr19 15851993 15864904 - LINC01835 transcribed_unprocessed_pseudogene 102724279 0 1 1 4 0 0 2 0 0 ENSG00000267454 chr19 56393656 56399172 + ZNF582-AS1 lincRNA 386758 1 1 2 9 0 7 0 2 4 ENSG00000267455 chr18 11810406 11811484 - AP005137.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267456 chr18 36278735 36279119 - AC023043.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267457 chr17 35073831 35074374 - AC004223.2 lincRNA 0 1 1 0 4 6 6 0 4 ENSG00000267458 chr19 12944118 12944487 - AC092069.1 antisense 42 52 86 96 178 152 56 85 98 ENSG00000267459 chr19 56377037 56377792 - AC006116.7 transcribed_processed_pseudogene 0 1 1 4 1 3 0 1 0 ENSG00000267461 chr17 68557516 68582577 + AC079210.1 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000267462 chr18 60010281 60014258 + AC090377.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267463 chr17 78066258 78066761 - UBE2V2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267465 chr19 31588196 31593781 + AC011525.2 lincRNA 100507527 0 0 0 0 0 0 0 0 0 ENSG00000267466 chr17 77563368 77568695 - AC021683.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267467 chr19 44942238 44945496 + APOC4 protein_coding This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011]. 346 GO:0034364, GO:0034364, GO:0034361, GO:0034361, GO:0034361, GO:0005576, high-density lipoprotein particle, high-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, very-low-density lipoprotein particle, extracellular region, GO:0005515, GO:0005319, protein binding, lipid transporter activity, GO:0070328, GO:0070328, GO:0034447, GO:0034379, GO:0010890, GO:0010890, GO:0006869, GO:0006629, triglyceride homeostasis, triglyceride homeostasis, very-low-density lipoprotein particle clearance, very-low-density lipoprotein particle assembly, positive regulation of sequestering of triglyceride, positive regulation of sequestering of triglyceride, lipid transport, lipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000267469 chr19 3052910 3053724 + AC005944.1 antisense 178 160 296 479 196 588 398 190 503 ENSG00000267470 chr19 37548914 37587348 + ZNF571-AS1 antisense 100507433 8 5 4 7 3 2 7 3 3 ENSG00000267471 chr17 70628917 70629265 - AC005771.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267472 chr17 68198921 68199596 + ARHGAP27P2 processed_pseudogene 0 0 1 0 0 0 4 0 0 ENSG00000267474 chr19 14458401 14459366 + AC008569.2 sense_intronic 5 4 11 5 8 9 7 1 8 ENSG00000267475 chr19 32687089 32691750 - AC008736.1 lincRNA 4 2 1 0 0 0 0 0 2 ENSG00000267476 chr18 58672613 58752730 - AC104365.1 antisense 0 6 2 4 1 2 8 3 0 ENSG00000267477 chr19 11466240 11505698 - AC008481.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267478 chr18 12091674 12093141 - AP002414.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267480 chr18 12031178 12032181 - AP001542.3 antisense 15 27 9 8 34 14 14 27 12 ENSG00000267481 chr19 19788755 19790531 - AC011477.2 sense_intronic 34 26 52 22 50 50 35 20 20 ENSG00000267482 chr17 30059054 30059147 - AC104996.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267484 chr19 4838332 4838907 + AC027319.1 antisense 268 219 246 119 151 125 97 135 138 ENSG00000267486 chr18 59778572 59778989 + GLUD1P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267487 chr18 62418318 62418576 + AC100843.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267489 chr19 31859103 32072082 - LINC01837 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267490 chr19 9724008 9725086 - AC008759.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267491 chr17 78903263 78905024 + AC100788.1 antisense 5 18 11 4 14 17 1 10 12 ENSG00000267492 chr17 18453574 18453739 - AL353997.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267493 chr19 1267814 1270241 - CIRBP-AS1 antisense 148046 30 43 31 54 50 30 41 16 37 ENSG00000267496 chr17 43917194 43917985 + FAM215A lincRNA 23591 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 1 0 0 0 10 0 0 0 ENSG00000267497 chr18 59969438 59971396 + NFE2L3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267498 chr19 29213235 29215815 + AC007786.1 lincRNA 105372352 0 1 0 0 2 0 0 2 0 ENSG00000267500 chr19 11648364 11652877 + ZNF887P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267501 chr18 58754859 58757842 - AC104365.2 lincRNA 0 0 0 3 0 0 8 0 4 ENSG00000267503 chr18 13561399 13565035 - AP005131.3 antisense 0 0 1 0 1 0 0 0 0 ENSG00000267504 chr18 58371566 58372666 + AC090236.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000267505 chr17 44793199 44794474 + AC005180.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267506 chr17 77546940 77563243 + AC021683.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267507 chr19 55119250 55120383 - AC010327.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000267508 chr19 44382298 44401608 - ZNF285 protein_coding 26974 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 10 4 0 1 0 0 ENSG00000267509 chr19 28065267 28125430 + AC010511.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267510 chr19 9291515 9294482 + AC011451.1 antisense 7 15 22 20 18 22 15 14 13 ENSG00000267511 chr18 50063795 50064440 + ADAD1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267512 chr19 13139617 13141147 - AC011446.1 antisense 64 34 51 24 32 17 17 25 32 ENSG00000267513 chr18 60794613 60794916 - HMGN1P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267515 chr18 12450447 12451042 + AP001029.3 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000267517 chr19 16065737 16066312 + LINC01855 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267518 chr17 76345761 76346081 + AC090699.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267519 chr19 13823880 13842928 - AC020916.1 antisense 1791 3463 3815 14266 24879 33118 16489 17081 27639 ENSG00000267520 chr2 60925909 60931610 + AC010733.2 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000267521 chr17 76957023 76958222 - AC016168.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267522 chr19 56066684 56078801 + LINC01864 lincRNA 101928886 0 0 0 1 4 0 0 0 0 ENSG00000267523 chr19 55661901 55674715 - AC008735.2 antisense 66 66 73 69 79 70 66 59 55 ENSG00000267524 chr18 54744750 54745581 + RPSAP57 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267526 chr17 60063004 60064782 - AC005702.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267528 chr19 28883430 28953245 + AC008991.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000267529 chr18 13471012 13472709 - AP005131.4 processed_transcript 0 2 5 0 4 0 5 1 0 ENSG00000267530 chr19 782755 785080 + LINC01836 lincRNA 107985343 0 0 0 2 0 0 0 0 0 ENSG00000267532 chr17 7015818 7019659 - MIR497HG antisense 100506755 155 140 221 457 614 772 318 222 438 ENSG00000267533 chr18 12067173 12068417 - AP002414.4 processed_pseudogene 1 0 0 1 1 0 0 2 5 ENSG00000267534 chr19 10221433 10231331 - S1PR2 protein_coding This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness. [provided by RefSeq, Mar 2016]. 9294 GO:0016021, GO:0005886, GO:0005886, GO:0005886, GO:0005737, integral component of membrane, plasma membrane, plasma membrane, plasma membrane, cytoplasm, GO:0038036, GO:0038036, GO:0008289, GO:0005515, GO:0005178, GO:0004930, GO:0001664, sphingosine-1-phosphate receptor activity, sphingosine-1-phosphate receptor activity, lipid binding, protein binding, integrin binding, G protein-coupled receptor activity, G protein-coupled receptor binding, GO:1903142, GO:0090394, GO:0046847, GO:0031532, GO:0019222, GO:0010800, GO:0008284, GO:0007189, GO:0007186, GO:0003376, GO:0003376, GO:0000187, positive regulation of establishment of endothelial barrier, negative regulation of excitatory postsynaptic potential, filopodium assembly, actin cytoskeleton reorganization, regulation of metabolic process, positive regulation of peptidyl-threonine phosphorylation, positive regulation of cell population proliferation, adenylate cyclase-activating G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, sphingosine-1-phosphate receptor signaling pathway, sphingosine-1-phosphate receptor signaling pathway, activation of MAPK activity, 9 11 39 13 5 5 16 4 16 ENSG00000267535 chr17 76850176 76861836 + LINC00868 lincRNA 283994 0 0 0 0 0 0 0 0 0 ENSG00000267537 chr19 28602379 28648303 - AC079466.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267541 chr18 47853233 47853457 - MTCO2P2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000267543 chr17 76549951 76550826 + AC015802.3 sense_intronic 3 0 0 4 0 2 2 1 1 ENSG00000267544 chr19 10841839 10842250 + AC007229.1 processed_pseudogene 0 0 3 0 1 2 0 2 0 ENSG00000267545 chr19 45179822 45202444 + AC005779.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267546 chr17 76545668 76557683 - AC015802.4 antisense 8 10 16 11 37 22 15 17 27 ENSG00000267547 chr17 35403837 35404373 - AC060766.4 lincRNA 0 8 4 12 7 4 7 4 7 ENSG00000267549 chr19 56314703 56341287 + AC006116.8 antisense 0 6 5 0 1 10 0 1 0 ENSG00000267550 chr19 5178119 5178464 + AC022517.1 antisense 0 0 0 0 3 2 4 2 0 ENSG00000267551 chr19 3141576 3155175 - AC005264.1 antisense 100996351 41 33 67 11 34 14 14 26 7 ENSG00000267552 chr19 37689865 37719188 - AC093227.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267554 chr17 35470069 35470628 - AC015911.8 processed_pseudogene 13 10 25 50 7 65 41 6 33 ENSG00000267555 chr19 32831295 32833168 + AC008805.2 antisense 0 1 0 0 0 0 0 0 0 ENSG00000267557 chr19 32666298 32673210 + AC008474.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267558 chr18 45788530 45788670 + AC087685.1 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000267559 chr9 81930226 81977089 - AL158154.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267560 chr18 62300036 62300998 - AC027514.2 antisense 5 23 11 33 45 43 47 35 25 ENSG00000267561 chr1 86993009 87169204 + AC093155.3 protein_coding 0 1 0 0 0 0 0 0 0 ENSG00000267563 chr19 6259157 6259799 + AC011471.2 antisense 2 0 0 0 0 4 0 0 0 ENSG00000267564 chr18 11447756 11489369 - AP001109.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267565 chr19 19892433 19895847 - AC011477.3 antisense 3 0 2 1 2 5 3 3 1 ENSG00000267567 chr19 32718298 32719595 - AC008736.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267568 chr17 76950317 76969156 - AC016168.2 processed_transcript 105371899 0 0 2 1 0 0 0 0 0 ENSG00000267570 chr18 12911186 12912023 + STK25P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267571 chr19 5911578 5913899 - AC104532.2 antisense 10 16 22 22 18 36 49 19 24 ENSG00000267573 chr18 44320800 44322257 - KRT8P5 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000267574 chr19 29448038 29448380 + AC011474.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267575 chr19 27793463 27918863 + AC006504.5 lincRNA 101927151 6 8 7 12 3 0 0 7 6 ENSG00000267576 chr19 11322156 11324195 + AC011472.3 sense_intronic 530 582 805 217 576 285 209 551 374 ENSG00000267577 chr19 55158939 55177540 + AC010327.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267579 chr18 58557070 58566677 + AC104971.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267580 chr19 33299934 33301168 + AC008738.3 antisense 49 41 58 20 44 23 20 18 20 ENSG00000267581 chr19 19761038 19821716 - AC011477.4 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000267582 chr19 13796574 13796933 - AC020916.2 antisense 5 2 5 1 3 3 2 1 5 ENSG00000267583 chr18 35443869 35467088 - AC007998.3 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000267585 chr18 34573987 34574523 - AC013290.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267586 chr18 42159283 42691422 + LINC00907 lincRNA 284260 0 0 0 6 3 2 0 4 0 ENSG00000267587 chr18 46852632 46853882 - AC090241.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000267589 chr19 6072823 6073527 + AC011444.4 processed_pseudogene 0 1 1 6 3 3 3 4 5 ENSG00000267590 chr19 44297104 44297355 + NDUFA3P1 processed_pseudogene 0 2 0 0 1 0 0 0 0 ENSG00000267591 chr18 50098742 50099162 + AC105224.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267592 chr17 35596904 35597128 - AC004134.1 processed_pseudogene 18 30 19 32 36 47 37 33 51 ENSG00000267593 chr18 58813880 58834364 + LINC01926 lincRNA 105372147 0 0 0 0 0 0 0 0 0 ENSG00000267594 chr19 15760241 15779909 - CYP4F24P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267595 chr17 43168170 43168249 - AC060780.3 unprocessed_pseudogene 10 8 6 3 3 12 7 5 2 ENSG00000267597 chr18 61957273 61958014 - RPIAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267598 chr19 13153071 13154193 - AC011446.2 antisense 2918 2742 4104 7792 17707 16643 10976 20404 17010 ENSG00000267599 chr19 31465653 31466431 + AC008794.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267601 chr17 78855478 78855844 + AC022966.1 antisense 481 493 584 134 359 280 208 309 240 ENSG00000267603 chr17 70051277 70068095 + LINC01028 lincRNA 101928141 0 0 0 0 0 0 0 0 0 ENSG00000267604 chr17 43782804 43784682 - AC003098.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000267605 chr19 37265939 37271518 - AC016590.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000267606 chr19 56354493 56368053 - AC006116.9 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000267607 chr19 10285801 10289019 - AC011511.5 antisense 514 595 992 1542 1567 3176 1688 1500 2697 ENSG00000267609 chr19 16034776 16036537 - SNX33P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267610 chr19 13069792 13071374 - AC007787.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267611 chr19 33051515 33051701 + AC008521.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267612 chr19 9730853 9731943 + AC008759.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267614 chr19 44536263 44536613 - AC245748.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267615 chr17 75943832 75945142 + AC087289.4 antisense 33 143 145 48 183 180 48 138 135 ENSG00000267617 chr19 28869796 28879170 + AC007795.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267618 chr17 35011349 35121493 - RAD51L3-RFFL protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267620 chr18 60196555 60198172 + AC090771.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000267623 chr19 27902595 27984743 + AC005357.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267624 chr17 78211618 78211908 - AC087645.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267625 chr17 35561539 35562077 - AC015911.9 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267626 chr19 35608285 35612666 - AC002115.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000267627 chr18 35951803 35966118 - AC118757.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267628 chr18 79253577 79254856 - AC104423.1 antisense 0 2 1 0 0 0 0 0 3 ENSG00000267629 chr19 19254748 19273369 - AC138430.1 processed_transcript 0 0 0 0 0 0 0 0 3 ENSG00000267630 chr19 27918943 27929370 + AC005758.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267631 chr19 49035610 49036895 - CGB1 protein_coding The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]. 114335 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0005179, hormone activity, GO:0009755, GO:0007186, hormone-mediated signaling pathway, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000267632 chr17 42509784 42511519 + AC067852.3 sense_intronic 63 72 70 43 119 51 40 59 68 ENSG00000267633 chr19 13772118 13774118 - AC008686.1 antisense 19 14 16 54 33 45 43 21 18 ENSG00000267634 chr17 44365014 44365751 - RPL7L1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267636 chr19 31421997 31427302 + AC008992.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267637 chr17 59784813 59785035 + AC040904.1 sense_intronic 40 33 44 34 33 47 33 34 13 ENSG00000267638 chr17 44115912 44120595 + AC023855.1 antisense 105371789 7 10 8 4 4 11 4 3 5 ENSG00000267640 chr19 37817359 37832160 + AC016582.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000267641 chr19 20175013 20177063 - BNIP3P16 processed_pseudogene 0 1 0 3 0 0 1 0 0 ENSG00000267642 chr18 33552123 33578187 - AC091198.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267643 chr18 12200779 12201979 + AP005264.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267644 chr17 28219285 28220005 + AC061975.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267645 chr7 102637049 102671641 - AC105052.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267646 chr19 11796084 11798598 - AC008543.5 antisense 0 0 0 0 0 0 3 0 0 ENSG00000267647 chr18 54954403 54954732 + MAP1LC3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267648 chr17 35406948 35407818 - AC060766.5 transcribed_processed_pseudogene 4 2 1 1 6 0 6 3 0 ENSG00000267649 chr19 55216660 55221616 + AC010327.4 lincRNA 1 4 3 9 16 20 8 6 8 ENSG00000267650 chr19 9995997 9997163 + AC008742.1 antisense 1 0 1 2 0 2 0 0 2 ENSG00000267651 chr18 37234119 37236242 - AC015961.1 lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000267652 chr18 41789162 41789395 - AC011712.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267653 chr17 69477139 69501755 - AC002546.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267655 chr18 79117207 79117920 + AC125437.1 sense_intronic 10 10 15 15 25 34 5 1 6 ENSG00000267656 chr18 13139780 13140489 - AP001357.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267658 chr17 42154600 42155972 + AC099811.3 lincRNA 8 4 3 2 7 0 1 2 1 ENSG00000267659 chr17 68591796 68763882 + LINC01482 lincRNA 101928104 0 0 0 0 0 0 0 0 0 ENSG00000267661 chr18 11928838 11929476 + AP001269.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267662 chr19 31348881 31417794 + AC025809.1 antisense 2 0 2 0 0 5 0 4 1 ENSG00000267663 chr18 12246589 12247055 + PPIAP56 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267664 chr18 40143926 40144504 - RPL17P45 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267665 chr17 77526998 77536592 + AC021683.3 lincRNA 400622 0 0 0 0 0 0 0 0 0 ENSG00000267666 chr19 663482 669500 + AC004156.1 lincRNA 0 0 1 1 1 0 0 0 0 ENSG00000267667 chr17 61130704 61135964 - AC005856.1 antisense 0 3 3 0 6 13 1 0 1 ENSG00000267669 chr18 59821040 59825261 + AC098847.1 transcribed_processed_pseudogene 1 1 0 0 0 0 0 0 0 ENSG00000267670 chr19 14030855 14031557 - AC022098.2 antisense 0 0 1 2 0 0 0 0 0 ENSG00000267672 chr19 37091341 37092564 + AC010632.2 sense_intronic 0 0 0 0 0 0 0 0 1 ENSG00000267673 chr19 10310045 10316015 - FDX2 protein_coding This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]. 112812 GO:0005759, mitochondrial matrix, GO:0051537, GO:0046872, GO:0009055, GO:0005515, 2 iron, 2 sulfur cluster binding, metal ion binding, electron transfer activity, protein binding, GO:0044281, GO:0022900, GO:0016125, GO:0006700, small molecule metabolic process, electron transport chain, sterol metabolic process, C21-steroid hormone biosynthetic process, 0 0 0 0 2 0 2 0 0 ENSG00000267674 chr18 49739823 49742063 - AC090227.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267675 chr18 58416765 58417628 + AC105105.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267676 chr17 78248493 78254416 - THA1P unitary_pseudogene 0 0 2 2 0 4 0 0 0 ENSG00000267677 chr18 59360700 59386749 + AC016229.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267678 chr17 60562010 60562161 - AC011921.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267679 chr17 78157403 78159135 + EIF5AP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267680 chr19 44094339 44109886 + ZNF224 protein_coding This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein represses transcription of the aldolase A gene, which encodes a key enzyme in glycolysis. The encoded zinc-finger protein may also function as a transcriptional co-activator with Wilms' tumor protein 1 to regulate apoptotic genes in leukemia. [provided by RefSeq, Jul 2016]. 7767 GO:0031965, GO:0017053, GO:0005654, GO:0005634, GO:0005634, nuclear membrane, transcription repressor complex, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0043565, GO:0005515, GO:0001228, GO:0001227, GO:0000978, metal ion binding, sequence-specific DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription repressor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0045892, GO:0006357, GO:0000122, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 211 254 190 285 444 357 290 257 251 ENSG00000267681 chr17 43144956 43145255 + AC135721.1 transcribed_processed_pseudogene 8 5 3 0 2 8 2 0 4 ENSG00000267682 chr19 37337236 37337743 + AC016590.2 sense_intronic 0 1 0 9 2 5 0 1 3 ENSG00000267683 chr19 28892931 28895949 + AC008991.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267685 chr19 49038479 49039038 - NTF6B unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267686 chr18 60125033 60161195 + AC090771.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267687 chr18 60525616 60526156 - AC010928.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267688 chr19 3121116 3122128 - KF456478.1 antisense 1 2 3 6 0 0 5 0 0 ENSG00000267689 chr19 55705978 55706172 - AC010525.2 processed_pseudogene 0 0 7 1 11 0 6 3 1 ENSG00000267690 chr18 13419421 13427480 - LDLRAD4-AS1 antisense 100288122 0 0 0 2 0 0 0 0 0 ENSG00000267691 chr17 44228760 44230228 - SHC1P2 processed_pseudogene 2 0 3 0 3 0 0 0 1 ENSG00000267692 chr19 30037285 30037411 + TAF9P3 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000267693 chr19 19768731 19768989 + AC011477.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267694 chr18 13461020 13470823 - AP005131.5 antisense 0 0 0 0 0 8 1 0 0 ENSG00000267695 chr18 50302190 50313595 + AC105227.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267696 chr19 27638483 27646483 - ERVK-28 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267697 chr7 135927274 135927450 - LUZP6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267698 chr19 36014508 36045972 + AC002116.2 antisense 101927572 3 3 5 2 3 0 9 5 0 ENSG00000267699 chr18 50968019 51058144 + AC091551.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267702 chr18 13486462 13490676 + AP005131.6 sense_intronic 3 13 19 8 13 20 21 20 28 ENSG00000267703 chr19 16440946 16443584 + AC020917.2 antisense 5 1 1 6 2 5 6 1 0 ENSG00000267704 chr18 14137710 14139272 + FRG2LP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267705 chr18 58752179 58753898 - AC104365.3 lincRNA 3 2 7 20 7 2 3 4 2 ENSG00000267706 chr19 55352301 55359516 - AC020922.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267707 chr18 37243776 37247506 + AC015961.2 antisense 0 0 0 0 0 0 0 0 5 ENSG00000267708 chr17 68152776 68159043 - RDM1P3 unprocessed_pseudogene 4 0 2 0 2 0 0 2 0 ENSG00000267709 chr19 5847467 5858239 + AC024592.2 antisense 101928844 0 0 0 0 0 0 0 0 0 ENSG00000267710 chr19 56272769 56310450 + EDDM13 protein_coding 100506374 GO:0005576, extracellular region, 0 0 1 5 4 1 0 1 0 ENSG00000267711 chr17 35400878 35403006 - AC060766.6 lincRNA 1 2 0 1 4 0 2 1 0 ENSG00000267712 chr18 56083356 56137536 - LINC01539 lincRNA 100505474 0 0 0 0 0 0 0 0 0 ENSG00000267713 chr18 50669510 50670215 + AC012433.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267714 chr19 33217817 33221170 + AC008738.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267716 chr18 44039471 44040140 + AC083760.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267717 chr18 51158282 51159383 - SRSF10P1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000267719 chr17 79707266 79712317 + LINC02078 lincRNA 100652929 0 0 0 0 0 0 0 0 0 ENSG00000267722 chr18 12081540 12085267 + AP002414.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267723 chr19 14254189 14293205 - AC011509.2 lincRNA 0 0 2 2 5 10 2 2 0 ENSG00000267724 chr18 47105946 47108062 + AC012254.3 antisense 4 8 10 13 4 17 9 3 4 ENSG00000267725 chr19 33067175 33067433 + AC008521.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267726 chr18 57169615 57171194 - LINC02565 lincRNA 105372138 0 0 0 0 0 0 0 0 0 ENSG00000267727 chr19 33301279 33301940 + AC008738.5 antisense 47 30 48 9 21 11 2 8 9 ENSG00000267729 chr17 28727258 28727739 + AC010761.6 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267731 chr17 68189884 68192802 + AC005332.2 lincRNA 9 3 12 26 4 21 21 1 14 ENSG00000267732 chr18 56138612 56143221 + AC006305.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267733 chr18 12201982 12223539 + AP005264.5 transcribed_processed_pseudogene 3 4 10 4 10 1 1 4 0 ENSG00000267734 chr1 86932199 86934891 - AL121989.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267735 chr19 12880969 12884088 + AC020934.2 antisense 18 171 144 11 62 60 20 79 27 ENSG00000267736 chr19 1203209 1203842 + HMGB2P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267737 chr17 78315729 78347798 + AC087645.2 lincRNA 3 2 0 4 3 3 2 0 1 ENSG00000267740 chr19 5866171 5903787 - AC024592.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267741 chr19 9774497 9774960 + UBE2L4 processed_pseudogene 0 0 0 1 0 2 0 0 0 ENSG00000267742 chr18 60016778 60017441 - SINHCAFP2 processed_pseudogene 5 0 0 1 1 1 2 0 3 ENSG00000267743 chr18 58189834 58195696 - AC107896.1 antisense 105372143 0 0 0 0 0 0 0 0 0 ENSG00000267744 chr17 35190961 35191702 + AC022916.3 transcribed_processed_pseudogene 0 0 0 1 0 0 2 0 0 ENSG00000267745 chr17 35406684 35409768 - AC060766.7 processed_transcript 7 6 0 14 19 11 13 5 6 ENSG00000267746 chr18 34222965 34224761 + AC104985.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267748 chr19 38289151 38304910 + AC011479.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267749 chr19 2641838 2643853 - AC092068.3 sense_intronic 4 4 3 1 4 7 1 4 6 ENSG00000267750 chr17 44299574 44315315 - RUNDC3A-AS1 antisense 2 2 0 0 4 0 0 0 0 ENSG00000267751 chr19 567210 572228 - AC009005.1 antisense 14 30 11 25 35 14 8 31 23 ENSG00000267752 chr18 23672253 23672748 - RPS10P27 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267755 chr19 1376773 1377520 - AC005329.2 antisense 2 4 7 5 7 0 5 6 3 ENSG00000267756 chr18 14074912 14075741 - AC006557.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267757 chr19 45641494 45642840 + EML2-AS1 processed_transcript 100287177 1 6 13 13 2 23 12 8 18 ENSG00000267758 chr17 42268587 42269807 + AC099811.4 antisense 11 30 13 35 58 55 69 42 49 ENSG00000267760 chr19 30665274 30668647 - AC011478.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267761 chr18 47285725 47594550 + MIR4527HG lincRNA 110175910 0 0 0 0 0 0 0 0 0 ENSG00000267762 chr18 48673575 48688419 - AC048380.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267764 chr18 48826051 48834770 - AC093567.1 antisense 1 1 3 0 2 4 0 0 0 ENSG00000267765 chr17 42683187 42699466 - AC100793.3 antisense 2 0 4 4 7 9 2 9 4 ENSG00000267766 chr18 63151114 63151320 - AC022726.1 sense_intronic 0 1 0 0 0 0 1 0 0 ENSG00000267767 chr19 34788582 34832869 - LINC01801 lincRNA 400685 0 4 0 2 2 3 5 7 8 ENSG00000267768 chr19 27908356 27908554 - AC006504.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267769 chr19 4454014 4455286 + AC011498.6 antisense 74 82 100 31 66 36 50 69 52 ENSG00000267770 chr17 78522247 78522828 + AC016182.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267771 chr19 20206844 20206954 - AC011447.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267772 chr17 60564547 60586623 + LINC01999 lincRNA 388406 0 0 0 0 0 0 0 0 0 ENSG00000267773 chr18 11644336 11644824 + AP001120.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267774 chr18 59696459 59698111 + AC010776.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267775 chr19 9191286 9192170 + OR7E16P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267776 chr19 56376704 56377284 - AC006116.10 sense_intronic 0 1 1 0 0 5 0 0 0 ENSG00000267777 chr19 31167516 31207663 + LINC01791 lincRNA 107985312 0 0 0 0 2 0 0 2 0 ENSG00000267778 chr19 1238179 1239522 + AC004221.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267779 chr19 32025862 32056865 + LINC01533 lincRNA 100996665 0 0 0 0 0 0 0 0 0 ENSG00000267780 chr18 79792726 79816529 + AC021594.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267781 chr19 56386226 56386690 + SLC25A36P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000267782 chr17 35164243 35167012 - AC022916.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267783 chr19 14119106 14119537 + AC022098.3 antisense 0 2 4 3 0 0 2 0 2 ENSG00000267784 chr2 178723457 178727046 + AC010680.1 antisense 0 0 0 0 0 1 1 0 0 ENSG00000267786 chr19 35947115 35959192 + AF038458.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267787 chr18 57639455 57738603 + AC027097.2 antisense 5 4 2 6 14 12 4 8 3 ENSG00000267788 chr17 44982514 44982772 + AC015936.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267789 chr18 57136322 57146998 - AC100775.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267790 chr17 77722872 77728559 - LINC01987 lincRNA 100132174 0 0 0 0 0 0 0 0 0 ENSG00000267791 chr19 12688922 12689238 + AC018761.4 antisense 0 0 0 0 1 0 0 2 0 ENSG00000267792 chr19 145485 145812 + WBP1LP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267793 chrY 19598188 19598757 + AC009977.1 transcribed_processed_pseudogene 0 1 1 1 1 0 1 1 2 ENSG00000267794 chr18 11618208 11618315 + AP001120.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267795 chr16 4788397 4796491 + SMIM22 protein_coding 440335 GO:0016021, GO:0005770, integral component of membrane, late endosome, GO:0005515, protein binding, GO:0140042, GO:0051726, GO:0042127, GO:0042127, GO:0032956, GO:0030335, lipid droplet formation, regulation of cell cycle, regulation of cell population proliferation, regulation of cell population proliferation, regulation of actin cytoskeleton organization, positive regulation of cell migration, 0 0 2 4 0 0 2 0 2 ENSG00000267796 chr19 35748361 35754519 + LIN37 protein_coding This gene encodes a protein expressed in the eye. [provided by RefSeq, Jul 2008]. 55957 GO:0031523, GO:0017053, GO:0005654, Myb complex, transcription repressor complex, nucleoplasm, GO:0005515, protein binding, GO:0051726, GO:0000122, regulation of cell cycle, negative regulation of transcription by RNA polymerase II, 40 32 41 59 77 70 53 37 37 ENSG00000267797 chr18 35841759 35842617 + NRBF2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267799 chr19 28790812 28792871 - MAN1A2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267800 chr18 47137018 47137290 + AC012254.4 processed_pseudogene 0 0 0 0 1 3 0 0 0 ENSG00000267801 chr17 75876372 75879546 + AC087289.5 antisense 3 0 1 2 0 3 3 1 0 ENSG00000267808 chr19 51599289 51600470 + AC018755.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267809 chr19 53223973 53224879 - NDUFV2P1 processed_pseudogene 4 1 1 6 0 4 2 3 6 ENSG00000267811 chr11 62771120 62771606 - AP001160.2 antisense 1 1 0 1 0 0 3 1 0 ENSG00000267815 chr19 50310022 50310539 - AC008655.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267827 chr19 52130548 52171533 - AC011468.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000267828 chr7 75297990 75298091 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000267834 chr9 129004502 129004998 - AL592211.1 lincRNA 3 3 0 0 0 0 0 0 0 ENSG00000267838 chr19 54438665 54439544 - AC245884.8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267852 chr19 7390522 7395039 - AC119396.2 antisense 5 5 2 13 9 21 7 5 5 ENSG00000267855 chr19 8308768 8321396 - NDUFA7 protein_coding This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011]. 4701 GO:0005761, GO:0005747, GO:0005747, GO:0005747, GO:0005743, GO:0005739, mitochondrial ribosome, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial respiratory chain complex I, mitochondrial inner membrane, mitochondrion, GO:0008137, GO:0005515, GO:0003735, NADH dehydrogenase (ubiquinone) activity, protein binding, structural constituent of ribosome, GO:0032981, GO:0032543, GO:0006120, GO:0006120, GO:0006120, mitochondrial respiratory chain complex I assembly, mitochondrial translation, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, mitochondrial electron transport, NADH to ubiquinone, 2 1 4 7 1 4 4 0 2 ENSG00000267857 chr21 45100487 45101094 - AL133499.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000267858 chr19 58559129 58574797 + MZF1-AS1 antisense 100131691 87 109 77 65 124 93 107 97 67 ENSG00000267868 chr13 112964835 112966131 - AL356740.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267871 chr19 57267220 57280334 - ZNF460-AS1 antisense 105372476 5 6 1 2 3 5 1 1 2 ENSG00000267872 chr19 22243254 22245347 - AC073539.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267879 chr19 50968210 51012129 + AC011483.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267881 chr19 41708612 41761282 + AC243967.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267882 chr20 47318502 47320754 + AL031666.2 antisense 100131496 1 0 1 0 0 0 0 0 0 ENSG00000267886 chr19 23075201 23100361 + AC074135.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267890 chr19 50075123 50075902 + AC010624.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267892 chr19 38738284 38739863 + AC022144.1 antisense 1 0 1 3 4 5 0 0 0 ENSG00000267895 chr19 51143826 51144196 + AC063977.1 transcribed_unprocessed_pseudogene 7 10 15 9 22 4 2 10 13 ENSG00000267898 chr19 48963975 48965158 + AC026803.2 lincRNA 14 14 26 77 55 91 44 37 42 ENSG00000267904 chr19 16639967 16640668 - AC024075.1 sense_intronic 15 18 14 6 22 14 14 16 27 ENSG00000267905 chr19 51340695 51344117 + AC008750.3 antisense 0 0 0 1 2 1 0 0 0 ENSG00000267908 chr19 56244043 56247482 + ZSCAN5DP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267909 chr14 69569816 69574837 - CCDC177 protein_coding 56936 0 0 1 0 0 0 0 0 0 ENSG00000267919 chr2 219645090 219645631 + AC009955.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267920 chr19 23126569 23127792 - SNX6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267922 chr19 46101122 46196218 + AC007785.1 lincRNA 0 0 0 0 0 4 0 0 0 ENSG00000267924 chr19 23817599 23874701 - AC139769.2 lincRNA 0 0 0 5 1 3 1 0 0 ENSG00000267927 chr19 52171158 52177002 + AC010320.1 antisense 1 4 1 2 1 0 9 2 0 ENSG00000267934 chr19 23323968 23329101 + AC010300.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267938 chr19 4347780 4349061 - EIF1P6 unprocessed_pseudogene 0 0 0 45 17 33 39 5 10 ENSG00000267939 chr19 8008729 8016025 + AC008946.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267940 chr11 6201901 6203253 - AC022762.2 lincRNA 4 9 9 5 4 12 12 5 14 ENSG00000267943 chr19 53007512 53013180 + AC010328.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000267952 chr19 7507052 7519622 + AC008878.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000267959 chr19 18282077 18282161 + MIR3188 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422833 0 0 0 0 0 0 2 3 0 ENSG00000267961 chr19 15141105 15142062 - OR10B1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000267968 chr19 50830530 50851089 + AC011523.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000267978 chrX 149581653 149587453 - MAGEA9B protein_coding MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009]. 728269 GO:0005575, cellular_component, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000267980 chr19 4363789 4364640 + AC007292.1 antisense 258 219 378 58 90 107 134 93 72 ENSG00000267984 chr19 51345169 51353293 + AC008750.4 antisense 50 27 28 47 45 34 40 36 38 ENSG00000267986 chr19 8581160 8582715 + AC130469.1 antisense 1 0 0 0 0 0 0 1 0 ENSG00000267990 chr19 51137970 51138634 + AC063977.2 unprocessed_pseudogene 14 39 25 5 17 8 14 18 15 ENSG00000267992 chr19 39030436 39031323 + AC010605.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268001 chr19 48255675 48258199 + CARD8-AS1 antisense 100505812 533 592 630 123 288 203 136 266 153 ENSG00000268006 chr19 49838639 49851676 - PTOV1-AS1 antisense 100506033 415 441 405 721 894 853 712 598 726 ENSG00000268009 chrX 48383516 48393347 + SSX4 protein_coding The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4, represents the more telomeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 6759 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000268015 chr19 52222225 52231294 - AC010320.2 antisense 40 36 35 31 21 46 32 27 24 ENSG00000268020 chr1 52473 53312 + OR4G4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268027 chr19 41545192 41555462 + AC243960.1 lincRNA 0 0 0 3 3 0 0 1 0 ENSG00000268030 chr19 18557775 18561560 - AC005253.1 antisense 198 234 219 362 443 405 428 334 307 ENSG00000268034 chr19 41506152 41506898 + AC243960.2 processed_pseudogene 3 8 14 2 5 2 4 2 4 ENSG00000268038 chr19 22615557 22623971 - LINC01785 lincRNA 374890 0 0 0 0 0 0 0 0 0 ENSG00000268041 chr19 41907705 41928516 - AC010616.1 protein_coding 390937 GO:0005634, nucleus, GO:0043565, GO:0000981, sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0030154, GO:0006357, cell differentiation, regulation of transcription by RNA polymerase II, 14 6 14 20 12 42 29 9 23 ENSG00000268043 chr1 146938744 146996202 + NBPF12 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]. 149013 GO:0005737, cytoplasm, 167 148 237 147 103 156 183 61 197 ENSG00000268047 chr19 49852887 49854967 - AC018766.1 antisense 91 90 76 45 85 46 48 74 43 ENSG00000268049 chr19 58357999 58359603 + AC012313.2 antisense 0 2 0 3 0 7 4 0 0 ENSG00000268050 chr9 129175807 129177575 + AL158151.3 antisense 2 5 3 13 3 6 1 1 9 ENSG00000268051 chr19 37963853 37964790 + AC008395.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000268053 chr19 46111079 46113863 - AC007785.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268055 chr19 38535517 38537128 - AC067969.1 antisense 0 0 0 1 0 0 0 0 0 ENSG00000268056 chr19 17152588 17168051 - AC020913.1 antisense 343 440 474 150 264 243 234 202 186 ENSG00000268058 chr19 24098425 24098980 - BNIP3P40 processed_pseudogene 1 0 1 0 0 5 0 0 0 ENSG00000268061 chr19 47484282 47501597 + NAPA-AS1 antisense 100505681 367 497 438 929 1213 932 1153 883 760 ENSG00000268062 chr1 171345105 171345307 - SRP14P4 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000268066 chrX 147909431 147911817 - FMR1-AS1 processed_transcript 100126270 GO:0043066, negative regulation of apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000268067 chr19 56690686 56761215 + OR5AH1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268069 chr12 47784923 47786002 + AC004466.1 antisense 186 203 237 221 267 239 272 230 261 ENSG00000268070 chr19 20033444 20034332 + AC006539.2 processed_pseudogene 0 1 0 0 3 0 1 0 0 ENSG00000268074 chr1 143929994 143930382 - RPL22P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268078 chr16 86158206 86158798 - AC135012.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268079 chr19 22203128 22204003 + BNIP3P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268080 chr8 93229659 93229916 + AC016885.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268081 chr19 21554640 21569237 - AC123912.1 antisense 3 1 6 15 20 23 8 30 30 ENSG00000268083 chr19 38817471 38840178 - AC008982.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268087 chr19 16610411 16636531 + AC008764.2 lincRNA 10 5 7 10 22 11 14 11 9 ENSG00000268088 chr19 39693925 39696258 + AC093063.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268089 chrX 152638183 152657534 + GABRQ protein_coding The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. [provided by RefSeq, Jul 2017]. 55879 GO:1902711, GO:0045211, GO:0045202, GO:0043235, GO:0043005, GO:0034707, GO:0005887, GO:0005886, GABA-A receptor complex, postsynaptic membrane, synapse, receptor complex, neuron projection, chloride channel complex, integral component of plasma membrane, plasma membrane, GO:0030594, GO:0005515, GO:0005326, GO:0005254, GO:0005230, GO:0004890, GO:0004888, neurotransmitter receptor activity, protein binding, neurotransmitter transmembrane transporter activity, chloride channel activity, extracellular ligand-gated ion channel activity, GABA-A receptor activity, transmembrane signaling receptor activity, GO:1902476, GO:0050877, GO:0042391, GO:0034220, GO:0007268, GO:0007165, GO:0006836, chloride transmembrane transport, nervous system process, regulation of membrane potential, ion transmembrane transport, chemical synaptic transmission, signal transduction, neurotransmitter transport, 0 0 0 0 0 0 0 0 0 ENSG00000268093 chr19 48619272 48624132 - AC022154.1 antisense 6 0 2 7 12 2 8 3 0 ENSG00000268095 chr19 51888025 51900463 + ZNF649-AS1 antisense 101928571 4 0 7 0 2 2 6 3 2 ENSG00000268100 chr19 23492428 23512656 - ZNF725P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268101 chr19 41050449 41062444 - CYP2G2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268104 chrX 116436622 116461458 + SLC6A14 protein_coding This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]. 11254 GO:0070062, GO:0031982, GO:0016021, GO:0005886, GO:0005886, extracellular exosome, vesicle, integral component of membrane, plasma membrane, plasma membrane, GO:0022858, GO:0015293, GO:0015171, alanine transmembrane transporter activity, symporter activity, amino acid transmembrane transporter activity, GO:0089718, GO:0035725, GO:0032328, GO:0009636, GO:0006865, GO:0003333, amino acid import across plasma membrane, sodium ion transmembrane transport, alanine transport, response to toxic substance, amino acid transport, amino acid transmembrane transport, 0 0 0 0 0 0 0 0 0 ENSG00000268105 chr19 23125665 23128543 + AC124856.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268107 chr19 57487718 57505381 + AC003005.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268108 chr19 49060613 49061132 + AC008687.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268112 chr19 17727840 17734513 - AC008761.1 antisense 68 59 69 21 53 53 43 39 26 ENSG00000268116 chr19 22130325 22130489 + AC073539.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268117 chr19 21719801 21720035 - VN1R84P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268119 chr19 21444241 21463908 - AC010615.2 processed_transcript 29 13 15 7 7 1 12 15 12 ENSG00000268120 chr19 7870561 7871296 + AC010336.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268129 chr3 143000907 143001467 - AC026304.1 lincRNA 0 1 2 3 5 7 4 1 6 ENSG00000268133 chr19 57363566 57398584 + AC003002.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268140 chr19 22137931 22138981 + PCGF7P processed_pseudogene 0 0 0 5 0 0 1 1 0 ENSG00000268144 chr19 51396755 51403526 - NIFKP6 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000268148 chr19 23290849 23291017 + VN1R91P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268149 chr19 7912648 7913518 - AC010336.4 antisense 148 144 184 89 123 109 138 97 110 ENSG00000268153 chr19 39638685 39642401 + AC005176.1 transcribed_unprocessed_pseudogene 100129935 0 0 0 0 0 0 0 0 0 ENSG00000268154 chr1 154950210 154950492 - RF00017 misc_RNA 1 4 1 2 6 13 6 3 1 ENSG00000268157 chr19 49356152 49357769 + AC010524.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268163 chr19 57437970 57477536 - AC004076.1 protein_coding 0 0 0 1 0 0 0 0 0 ENSG00000268170 chr7 143220468 143222267 - AC073342.2 antisense 75 70 67 38 61 52 77 52 40 ENSG00000268173 chr19 18153158 18178117 + AC007192.1 protein_coding 1 0 1 8 27 6 19 17 12 ENSG00000268174 chr19 20416514 20417069 + BNIP3P22 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000268181 chr7 63396341 63399250 - AC073188.6 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000268182 chr19 56643145 56655766 + SMIM17 protein_coding 147670 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000268184 chr19 21768772 21793860 - AC092364.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268186 chr19 48262900 48271283 - ZNF114-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268189 chr19 15379076 15381194 + AC005785.1 processed_transcript 145 171 164 151 175 148 173 164 110 ENSG00000268191 chr19 6494320 6495025 + AC010503.1 antisense 0 0 1 0 0 0 0 0 2 ENSG00000268193 chr19 18907013 18934397 - AC002985.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268199 chr19 18441419 18443597 + AC010335.1 antisense 471 434 836 385 519 829 379 441 647 ENSG00000268201 chr19 58266635 58267685 + AC020915.2 sense_intronic 0 0 3 1 1 3 2 0 0 ENSG00000268203 chr19 6494320 6494805 + AC010503.2 antisense 0 0 0 0 0 0 0 0 2 ENSG00000268204 chr19 7633766 7636990 - AC008763.1 antisense 15 13 2 22 18 4 9 6 12 ENSG00000268205 chr19 57304305 57308562 + AC005261.1 lincRNA 53 88 71 140 121 168 117 102 107 ENSG00000268209 chr4 69387580 69388307 + AC114786.4 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000268218 chr16 89268104 89273044 + AC137932.3 antisense 114 131 134 220 261 242 251 217 191 ENSG00000268220 chr3 170087810 170089590 + AC008040.5 antisense 109 122 163 138 184 205 190 107 152 ENSG00000268221 chrX 154182596 154196135 + OPN1MW protein_coding This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]. 2652 GO:0097381, GO:0005887, GO:0005886, GO:0001750, photoreceptor disc membrane, integral component of plasma membrane, plasma membrane, photoreceptor outer segment, GO:0042802, GO:0009881, GO:0008020, identical protein binding, photoreceptor activity, G protein-coupled photoreceptor activity, GO:0071482, GO:0032467, GO:0018298, GO:0009584, GO:0007602, GO:0007601, GO:0007186, GO:0007186, GO:0001523, cellular response to light stimulus, positive regulation of cytokinesis, protein-chromophore linkage, detection of visible light, phototransduction, visual perception, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000268222 chr19 35382172 35384052 + EEF1A1P7 processed_pseudogene 0 1 1 3 0 6 4 0 3 ENSG00000268223 chr5 116032324 116060118 + ARL14EPL protein_coding 644100 0 1 0 1 0 0 0 0 0 ENSG00000268225 chr19 52861807 52864151 - AC010487.1 unprocessed_pseudogene 1 0 1 0 2 0 1 0 0 ENSG00000268230 chr19 58346854 58362751 - AC012313.3 processed_transcript 2 3 0 1 1 0 0 4 3 ENSG00000268231 chr19 50555370 50557969 - AC008743.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000268234 chr9 42384805 42386136 + FKBP4P6 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000268235 chrX 102215301 102229532 + TCP11X1 protein_coding 100996631 GO:0036126, GO:0001669, sperm flagellum, acrosomal vesicle, GO:1902490, GO:0010737, GO:0007165, regulation of sperm capacitation, protein kinase A signaling, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000268238 chr19 46260420 46260858 - IGFL1P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268240 chr19 21587432 21594628 - AC123912.2 lincRNA 111 132 68 394 304 269 384 262 166 ENSG00000268243 chr19 39644502 39644612 + RPS29P30 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268257 chr6 160003291 160007664 - AIRN antisense Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013]. 100271873 9 8 13 13 13 9 21 1 8 ENSG00000268262 chr19 39314651 39320858 - AC011445.1 sense_overlapping 16 6 16 25 14 41 10 16 20 ENSG00000268266 chr19 57477649 57482996 + AC003005.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268267 chr19 51563797 51564910 - SIGLEC29P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268272 chr19 20583084 20583647 - VN1R78P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268278 chr19 21637974 21656300 + AC123912.3 unprocessed_pseudogene 10 3 6 2 10 0 10 3 0 ENSG00000268279 chr3 14135217 14148252 + AC090004.1 protein_coding 9 21 16 17 36 64 13 32 17 ENSG00000268282 chr19 53004040 53005150 + AC010328.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268287 chr19 49064259 49064856 + AC008687.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268288 chr1 151766486 151767000 - AL589765.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268289 chr19 17051994 17055087 + AC020908.1 antisense 2 0 1 2 1 6 4 2 4 ENSG00000268292 chr22 20064552 20065705 - AC006547.3 antisense 252 234 296 159 257 184 189 188 142 ENSG00000268293 chr19 58136713 58137054 + AC008751.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268295 chr14 91603173 91603433 - POLR3GP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268296 chr19 22907086 22914289 - AC022145.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268297 chr19 7787549 7790621 + CLEC4GP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268307 chr19 58400221 58400679 + LINC02560 lincRNA 110806301 0 0 0 0 0 0 0 0 0 ENSG00000268309 chr19 16551773 16552328 + AC008764.3 antisense 67 78 83 38 55 46 49 45 55 ENSG00000268316 chr19 51839771 51840945 - AC006272.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268318 chr19 51271266 51281234 + LINC01872 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268320 chr17 137526 139067 + SCGB1C2 protein_coding 653486 GO:0005576, extracellular region, GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000268322 chr19 21318161 21318719 + BNIP3P25 processed_pseudogene 3 2 4 2 3 0 0 2 0 ENSG00000268324 chr3 46557398 46559694 + LRRC2-AS1 antisense 83598 0 0 0 0 0 0 0 0 0 ENSG00000268326 chr19 20972262 20983210 + AC008739.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268333 chr20 58833809 58836529 - AL132655.1 lincRNA 0 3 0 0 0 0 0 0 0 ENSG00000268335 chr19 20443215 20443725 - BNIP3P23 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268336 chr19 51184905 51190809 + SIGLEC20P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268350 chrX 52926402 52995472 - FAM156A protein_coding 29057 GO:0016021, GO:0005635, integral component of membrane, nuclear envelope, GO:0035064, GO:0005515, methylated histone binding, protein binding, 0 2 7 0 2 1 4 0 2 ENSG00000268352 chr19 56672268 56684653 + AC006115.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268355 chr19 41531206 41532174 + AC243960.3 lincRNA 18 16 22 113 126 63 73 68 82 ENSG00000268357 chr19 21123817 21124188 + VN1R81P unprocessed_pseudogene 0 0 3 0 0 5 2 1 1 ENSG00000268361 chr19 43554692 43593036 - L34079.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268362 chr19 24033445 24066909 + AC092279.1 lincRNA 9 3 12 7 4 14 9 4 10 ENSG00000268364 chr9 70193997 70258866 - SMC5-AS1 antisense 0 0 0 2 0 0 2 0 0 ENSG00000268366 chr19 40443436 40444087 + AC010271.1 antisense 52 68 45 174 198 231 204 126 130 ENSG00000268375 chr19 50792685 50793584 - AC010325.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268379 chr19 57175233 57177921 + AC025588.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268388 chr16 86474529 86509099 - FENDRR lincRNA This gene produces a spliced long non-coding RNA transcribed bidirectionally with FOXF1 on the opposite strand. A similar gene in mouse is essential for normal development of the heart and body wall. The encoded transcript is thought to act by binding to polycomb repressive complex 2 (PRC2) and/or TrxG/MLL complexes to promote the methylation of the promoters of target genes, thus reducing their expression. It has been suggested that this transcript may play a role in the progression of gastric cancer. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]. 400550 0 0 0 0 0 0 0 0 0 ENSG00000268390 chr19 51043806 51052077 + AC011473.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268391 chr4 49548918 49549435 - MTCO3P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268392 chr19 57625032 57626950 + AC003682.1 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000268400 chr19 7629796 7643048 + AC008763.2 protein_coding 1 1 1 0 1 0 0 0 0 ENSG00000268401 chr19 46027654 46030161 + AC007785.3 lincRNA 2 0 1 3 0 0 0 0 0 ENSG00000268403 chr11 9459556 9460702 - AC132192.2 antisense 644656 5 11 8 96 78 128 55 74 84 ENSG00000268407 chr19 56793048 56793249 - AC006115.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268412 chr2 26028208 26028612 - TRMT112P6 processed_pseudogene 1 0 0 0 1 0 0 0 1 ENSG00000268416 chr19 20746923 20755250 - AC010329.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268423 chr19 46547056 46600861 - AC093503.1 sense_intronic 0 0 0 0 0 3 0 0 0 ENSG00000268433 chr19 21677550 21678221 - MTDHP3 processed_pseudogene 26 58 20 49 43 28 68 57 47 ENSG00000268434 chr19 45779437 45785973 - AC011530.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268438 chr19 21826513 21827279 + BNIP3P27 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000268442 chr19 24162370 24163425 - HAVCR1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268447 chrX 52751132 52790305 + SSX2B protein_coding The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 6757, located about 45 kb upstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013]. 727837 GO:0005634, GO:0005634, nucleus, nucleus, GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000268455 chr19 23596122 23598159 + AC073544.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268458 chr19 52142626 52144156 + AC011468.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268460 chr19 46203426 46214837 + AC006262.1 processed_transcript 93429 0 0 0 0 0 4 0 0 0 ENSG00000268461 chr19 20389658 20390689 + AC078899.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268465 chr19 48465837 48472431 + AC008403.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268469 chr19 23236308 23236851 + BNIP3P38 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268471 chr4 152536264 152539263 + MIR4453HG bidirectional_promoter_lncRNA 54553 73 34 58 58 33 63 42 44 72 ENSG00000268472 chr11 112260265 112261396 + AP002884.4 antisense 100132686 4 7 4 3 12 4 4 4 6 ENSG00000268473 chr16 86434830 86435884 - AC092327.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268475 chr19 41425359 41426237 + AC011462.2 antisense 239 230 466 29 62 14 54 69 52 ENSG00000268480 chr19 8630671 8638649 + LINC01862 lincRNA 105372267 GO:0005634, nucleus, GO:0003700, GO:0003677, DNA-binding transcription factor activity, DNA binding, GO:0006355, regulation of transcription, DNA-templated, 0 1 0 0 0 0 0 0 0 ENSG00000268483 chr19 57065334 57066139 + RPL7AP69 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268486 chr13 18408806 18431605 + FO681491.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268496 chr19 54434183 54434665 + AC245884.9 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000268499 chr19 38199836 38200934 + AC011479.2 sense_intronic 0 0 1 0 0 6 2 0 0 ENSG00000268500 chr19 51612091 51646889 - AC018755.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268505 chr16 86192793 86198913 - AC135012.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268509 chr3 5187172 5188298 - AC026202.3 antisense 139 95 184 55 35 82 53 49 85 ENSG00000268510 chr19 39236433 39237293 - IFNL3P1 unprocessed_pseudogene 0 0 1 3 0 0 0 1 0 ENSG00000268516 chr19 58257270 58278808 - AC020915.3 antisense 105372482 6 9 6 13 10 16 10 10 7 ENSG00000268518 chr19 50486810 50487638 - AC020909.2 lincRNA 0 1 0 4 0 5 1 0 2 ENSG00000268520 chr19 51361712 51365544 - AC008750.5 sense_intronic 0 1 0 0 2 7 4 1 0 ENSG00000268521 chr19 21289554 21289998 - VN1R83P unprocessed_pseudogene 4 7 17 17 3 18 6 8 8 ENSG00000268529 chr19 41134722 41137308 + CYP2T3P unprocessed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000268530 chr19 48465593 48469693 - AC008403.2 antisense 84 104 97 64 73 47 57 81 51 ENSG00000268531 chr15 21368459 21370621 + AC060814.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268532 chr16 86286427 86293389 + LINC02135 lincRNA 146513 0 0 0 0 0 0 0 0 0 ENSG00000268533 chr19 57394183 57438457 + AC003002.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268535 chr19 21709522 21710191 + MTDHP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268536 chr19 4785120 4791207 - AC005523.1 lincRNA 1 0 7 6 1 3 7 4 0 ENSG00000268541 chr19 22861303 22861594 + VN1R88P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268543 chr19 58418560 58419310 + AC012313.4 TEC 0 0 0 0 4 1 5 1 0 ENSG00000268545 chr19 57459912 57460120 + VN1R107P unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000268555 chr19 21570822 21587322 - AC123912.4 lincRNA 89 84 90 42 77 48 33 55 49 ENSG00000268560 chr19 20611559 20615389 + AC010636.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268564 chr19 15124160 15126174 + AC003956.1 antisense 0 0 0 0 3 0 0 0 0 ENSG00000268565 chr19 4654964 4655524 - AC005339.1 antisense 5 1 24 9 5 6 11 4 4 ENSG00000268566 chr18 38655209 38687998 - AC100781.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268568 chr19 56672574 56673901 - AC007228.1 lincRNA 0 1 0 0 1 1 0 0 0 ENSG00000268573 chr18 35280867 35290201 - AC011815.1 lincRNA 10 7 11 4 1 1 4 3 6 ENSG00000268575 chr1 1702736 1737688 - AL031282.2 processed_transcript 39 36 43 24 45 28 38 22 18 ENSG00000268580 chr2 144877734 144882033 - LINC01966 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268581 chr19 51119987 51122965 + SIGLEC18P unprocessed_pseudogene 0 1 3 5 2 0 3 0 0 ENSG00000268582 chr19 41652676 41652963 + AC243960.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268583 chr19 48204083 48213154 + AC011466.1 antisense 272 232 296 288 381 292 301 305 286 ENSG00000268584 chr10 73625996 73626790 + AC073389.1 antisense 0 0 0 0 3 4 0 0 0 ENSG00000268589 chr19 22620483 22620724 + AC011467.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268592 chr6 149863494 149919507 + RAET1E-AS1 antisense 100652739 0 0 0 1 0 0 4 0 0 ENSG00000268593 chr19 55707550 55707855 + AC008749.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268595 chr19 51251231 51271179 - AC063977.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268597 chr19 22259693 22261335 + AC073539.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268598 chr19 21063924 21064261 + VN1R80P unprocessed_pseudogene 0 0 0 1 0 0 0 0 2 ENSG00000268601 chr19 43794309 43795658 - AC115522.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268603 chr2 219497611 219498246 - AC053503.5 antisense 0 1 0 0 0 0 0 2 0 ENSG00000268605 chr19 42424384 42425071 - AC011497.1 sense_intronic 1 0 1 0 0 0 0 0 0 ENSG00000268606 chrX 152749863 152753884 - MAGEA2 protein_coding This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. 4101 GO:0016605, GO:0005634, PML body, nucleus, GO:0070491, GO:0042826, GO:0031625, GO:0005515, repressing transcription factor binding, histone deacetylase binding, ubiquitin protein ligase binding, protein binding, GO:1901984, GO:0090398, GO:0072331, GO:0051443, GO:0044257, GO:0033234, GO:0000122, negative regulation of protein acetylation, cellular senescence, signal transduction by p53 class mediator, positive regulation of ubiquitin-protein transferase activity, cellular protein catabolic process, negative regulation of protein sumoylation, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000268614 chr19 7533595 7540059 + AC008878.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268615 chr9 129328261 129328401 + AL353803.5 lincRNA 4 4 1 6 3 0 9 0 0 ENSG00000268618 chr19 8549506 8550139 + AC092316.1 antisense 63 68 94 51 53 48 56 36 37 ENSG00000268620 chr19 20249052 20250295 + AC078899.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268621 chr19 46189166 46203083 - IGFL2-AS1 lincRNA 645553 0 0 0 0 0 0 0 0 0 ENSG00000268623 chr19 18040355 18041083 + AC020904.1 processed_pseudogene 0 0 0 0 2 0 0 0 9 ENSG00000268628 chr20 19756390 19758037 - AL121761.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268629 chrX 105218929 105220674 - TEX13A protein_coding This gene is similar to a mouse gene that is expressed in the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 56157 GO:0046872, GO:0005515, metal ion binding, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000268635 chr11 77473371 77477030 + AP003680.1 antisense 33 26 34 192 231 303 130 129 180 ENSG00000268636 chr19 49625994 49626439 - AC011495.2 antisense 3 1 6 5 1 9 3 7 2 ENSG00000268643 chr19 42234583 42255132 - AC006486.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268649 chr20 58817132 58817725 - AL132655.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268650 chr19 18204730 18220480 + AC005759.1 antisense 102725254 1 0 0 1 0 0 0 0 0 ENSG00000268651 chrX 154585143 154586821 + CTAG1A protein_coding The protein encoded by this gene is a tumor cell antigen found in various types of cancers, which makes it a good candidate for a cancer vaccine. This gene is also highly expressed in normal ovary and testis tissues. An identical copy of this gene is found on the same chromosome. [provided by RefSeq, Dec 2015]. 246100 GO:0005737, cytoplasm, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0070525, GO:0045944, tRNA threonylcarbamoyladenosine metabolic process, positive regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000268652 chr19 51194118 51195540 - AC063977.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268654 chr19 56840902 56848556 + MIMT1 lincRNA 100073347 0 0 0 0 0 0 0 0 0 ENSG00000268655 chr19 49017496 49020523 - AC008687.4 protein_coding 101059948 0 0 0 0 0 0 0 0 0 ENSG00000268658 chr19 21483374 21503238 + LINC00664 lincRNA 400680 315 223 172 4026 2944 4104 4369 2262 2690 ENSG00000268659 chr10 75642476 75643106 + AL589863.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000268660 chr19 58044592 58046769 + LETM1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268663 chr1 674842 675265 + WBP1LP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268669 chr19 49042174 49042731 + AC008687.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268670 chr19 4061615 4062749 - AC016586.1 sense_intronic 11 8 16 7 6 8 22 4 2 ENSG00000268673 chr19 15760375 15770828 + AC004597.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268677 chr19 49688853 49690573 - AC011495.3 antisense 0 0 1 3 0 1 3 0 4 ENSG00000268678 chr19 57350848 57352012 - AC005261.2 antisense 1 1 1 7 1 1 8 5 0 ENSG00000268681 chr19 49502432 49502639 - COX6CP7 processed_pseudogene 0 0 0 0 0 5 0 0 6 ENSG00000268683 chr19 34638122 34640689 - AC020910.1 sense_intronic 0 0 0 0 0 0 4 0 0 ENSG00000268685 chr19 22362589 22362825 + AC011494.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268686 chr19 49368705 49388081 - AC010643.1 antisense 101928295 0 0 0 0 0 0 0 0 0 ENSG00000268696 chr19 22832321 22858667 + ZNF723 protein_coding 646864 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000268705 chr19 21521343 21521896 - BNIP3P26 processed_pseudogene 4 4 6 9 9 6 7 7 11 ENSG00000268707 chr9 129170434 129170940 + AL158151.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268711 chr19 51426347 51426668 - AC008750.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268713 chr19 57261354 57262738 + AC005261.3 lincRNA 9 12 14 16 13 19 19 12 15 ENSG00000268717 chr19 22457329 22458212 - BNIP3P33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268723 chr19 57317208 57317562 - AC005261.4 processed_pseudogene 1 0 0 0 0 0 0 0 2 ENSG00000268729 chr19 55312029 55312495 - AC020922.2 antisense 0 0 0 0 0 0 0 0 2 ENSG00000268731 chr19 21381220 21381921 - AC010615.3 processed_pseudogene 1 1 1 0 0 0 0 0 0 ENSG00000268734 chr19 54890673 54891420 + AC245128.3 lincRNA 1 0 0 0 0 2 1 0 1 ENSG00000268736 chr4 49246021 49246538 + MTCO3P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268738 chrX 149592515 149594716 - HSFX2 protein_coding 100130086 GO:0005737, GO:0005634, GO:0005634, GO:0000785, cytoplasm, nucleus, nucleus, chromatin, GO:0005515, GO:0003700, GO:0000981, GO:0000978, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 4 ENSG00000268739 chr19 51014374 51014734 + AC011473.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268742 chr19 6552358 6554494 - AC010503.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268743 chr19 16844025 16846473 + AC008737.1 sense_intronic 3 1 2 5 0 0 1 2 0 ENSG00000268744 chr19 12379189 12401274 - AC008758.4 protein_coding 2 0 0 0 0 5 0 0 0 ENSG00000268745 chr6 41791410 41791477 + AL365205.2 antisense 5 4 2 3 2 4 0 3 0 ENSG00000268746 chr19 47607524 47733098 + AC010519.1 lincRNA 0 0 0 2 1 0 1 0 0 ENSG00000268747 chr19 21276023 21276332 - AC022432.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268750 chr19 57819719 57858941 + AC010522.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268751 chr19 34576733 34577701 - SCGB1B2P lincRNA 0 0 0 0 0 0 0 0 4 ENSG00000268754 chr16 86221423 86301303 - LINC01081 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000268756 chr19 38820166 38823223 + AC104534.1 antisense 2 2 2 1 1 0 4 1 2 ENSG00000268758 chr19 6952500 6997872 - ADGRE4P transcribed_unprocessed_pseudogene This gene is a member of the EGF-TM7 receptor gene family which is thought to play a role in leukocyte adhesion and migration. In other vertebrates, including nonhuman primates, this gene encodes a protein containing N-terminal EGF domains and a C-terminal transmembrane domain. Sequence evidence for the human gene, however, indicates nucleotide deletion in the genomic sequence would result in frameshift and early termination of translation. A protein expressed by this gene would be soluble rather than expressed on the cell surface. As the encoded protein has not been detected, this gene may represent a transcribed pseudogene. [provided by RefSeq, Aug 2008]. 326342 112 288 538 24 30 39 9 13 18 ENSG00000268764 chr19 38108500 38109533 - AC011465.1 antisense 0 0 0 5 0 3 0 0 0 ENSG00000268777 chr19 51519731 51520260 + AC020914.1 antisense 0 1 2 0 0 0 3 0 0 ENSG00000268785 chr19 6593329 6594055 + RPL7P50 processed_pseudogene 0 0 0 5 2 0 0 0 0 ENSG00000268789 chr19 22742924 22743410 - VN1R87P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268790 chr19 16577642 16660115 - AC008764.4 protein_coding 1 0 0 0 0 0 0 0 0 ENSG00000268794 chr19 23288620 23289345 + VN1R90P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268797 chr19 40801297 40898282 + AC008537.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268798 chr19 1440839 1441938 + AC027307.3 lincRNA 0 0 1 1 6 0 1 1 0 ENSG00000268799 chr5 17491325 17491769 - AC106774.4 protein_coding 340096 GO:0005634, GO:0000786, nucleus, nucleosome, GO:0046982, GO:0003677, protein heterodimerization activity, DNA binding, 6 4 7 1 9 3 6 5 6 ENSG00000268803 chr4 69215908 69216635 - AC114797.1 unprocessed_pseudogene 18 22 52 0 2 6 1 2 1 ENSG00000268804 chr16 85935281 85936223 - LINC02132 lincRNA 0 0 0 1 0 2 0 0 0 ENSG00000268810 chr19 46382492 46383169 - AC007193.1 antisense 0 3 0 6 3 1 5 1 5 ENSG00000268812 chr22 30246205 30246998 + AC004264.1 antisense 91370 3 6 10 7 1 8 9 13 11 ENSG00000268818 chr22 35626988 35635134 - AL049747.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000268823 chr19 22603269 22608501 + AC011467.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000268830 chr19 22447934 22448777 - BNIP3P32 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268833 chr19 41757898 41786893 - AC243967.2 antisense 1 5 6 0 6 7 0 1 5 ENSG00000268834 chr19 14891737 14897845 - OR7A1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268836 chr16 185748 186294 - Z69706.1 lincRNA 2 0 0 2 0 0 1 2 0 ENSG00000268839 chr19 51505059 51505362 - AC020914.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268842 chr19 53162428 53163563 + AC092070.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268845 chr19 6953211 6954904 + AC025278.1 antisense 9 44 68 11 1 2 0 1 3 ENSG00000268847 chr19 56589495 56590281 - SIGLEC31P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268849 chr19 51211080 51212088 + SIGLEC22P transcribed_unprocessed_pseudogene 7 22 18 6 33 12 9 24 29 ENSG00000268854 chr19 50480119 50483351 - AC020909.3 antisense 25 30 58 35 10 17 46 31 28 ENSG00000268858 chr20 63861212 63864293 - AL118506.1 antisense 112268269 226 272 279 207 234 329 340 345 304 ENSG00000268861 chr19 7382834 7472477 + AC008878.3 protein_coding Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]. 23370 GO:0070062, GO:0045177, GO:0030054, GO:0016324, GO:0005886, GO:0005886, GO:0005856, GO:0005829, GO:0005829, extracellular exosome, apical part of cell, cell junction, apical plasma membrane, plasma membrane, plasma membrane, cytoskeleton, cytosol, cytosol, GO:0046872, GO:0005515, GO:0005085, GO:0005085, metal ion binding, protein binding, guanyl-nucleotide exchange factor activity, guanyl-nucleotide exchange factor activity, GO:0150105, GO:0051497, GO:0051056, GO:0043065, GO:0035023, GO:0030036, GO:0008360, GO:0007264, GO:0007186, GO:0007179, protein localization to cell-cell junction, negative regulation of stress fiber assembly, regulation of small GTPase mediated signal transduction, positive regulation of apoptotic process, regulation of Rho protein signal transduction, actin cytoskeleton organization, regulation of cell shape, small GTPase mediated signal transduction, G protein-coupled receptor signaling pathway, transforming growth factor beta receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000268864 chr19 53599628 53608451 - AC011487.2 transcribed_unprocessed_pseudogene 284379 0 0 0 0 0 0 0 0 0 ENSG00000268866 chr19 58224506 58225469 + AC020915.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268869 chr1 16687339 16720157 - ESPNP transcribed_unprocessed_pseudogene 0 2 0 1 0 0 0 0 0 ENSG00000268870 chr19 12391949 12441082 - AC008758.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268873 chr18 34737795 34767663 - AC022601.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268879 chr19 46196238 46197323 + IGFL1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268883 chrX 153075769 153076968 - PNMA6B unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268884 chr19 8346517 8347687 + AC010323.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268886 chr19 52575883 52585561 - AC022150.1 antisense 27 44 41 22 27 29 20 22 19 ENSG00000268889 chr19 51394488 51403650 + AC008750.7 lincRNA 0 0 1 0 0 1 0 0 0 ENSG00000268892 chr19 21221645 21222746 - AC010620.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268894 chr10 94279277 94287478 - PLCE1-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268895 chr19 58347751 58355183 + A1BG-AS1 antisense 503538 2 3 2 3 3 11 22 5 1 ENSG00000268896 chr2 219547211 219547658 - AC009955.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268902 chrX 152708261 152714549 - CSAG2 protein_coding 102723547 GO:0042493, response to drug, 0 0 0 0 0 0 0 0 0 ENSG00000268903 chr1 135141 135895 - AL627309.6 processed_pseudogene 534 883 869 894 1613 1310 886 1143 1315 ENSG00000268906 chr19 51030076 51034335 + AC011473.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268908 chr19 23444262 23445189 + VN1R92P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268912 chr19 58428632 58431148 - AC012313.5 lincRNA 1 1 3 3 12 2 7 3 5 ENSG00000268916 chrX 152753921 152760222 + CSAG3 protein_coding 389903 GO:0042493, response to drug, 0 0 0 0 0 0 0 0 0 ENSG00000268922 chr19 8778665 8778861 - AC012616.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268926 chr9 95772323 95776282 + AL354861.3 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000268931 chr19 8423355 8427827 - AC136469.1 antisense 1 0 0 0 0 2 0 0 0 ENSG00000268938 chr19 18531613 18532632 + AC005387.1 antisense 11 11 10 16 28 19 17 10 3 ENSG00000268940 chrX 135713453 135723539 + CT45A1 protein_coding 541466 GO:0032039, integrator complex, GO:0005515, protein binding, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000268941 chr20 58634772 58635738 + LINC01711 lincRNA 79160 0 0 0 0 0 0 0 0 0 ENSG00000268942 chr5 62512246 62512482 - CKS1BP3 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000268945 chr19 12682693 12687279 - AC010422.2 lincRNA 0 1 0 0 3 0 0 0 0 ENSG00000268947 chr19 35262846 35264804 + AC002128.1 sense_intronic 1 2 1 1 4 9 0 1 1 ENSG00000268949 chr1 44988705 44991834 - MRPS17P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268951 chr9 63719864 63720441 + AL772155.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268955 chr8 8188535 8189195 - AC068020.1 lincRNA 1 1 0 5 8 4 1 0 8 ENSG00000268957 chr19 51468360 51468636 - AC020914.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268964 chr19 53044738 53051076 + ERVV-2 protein_coding Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. This envelope glycoprotein gene appears to have been selectively preserved. The gene's protein product is expressed in the placenta and acts as a syncytin in Old World monkeys, but has lost the fusogenic activity in humans and other primate lineages. [provided by RefSeq, Jun 2015]. 100271846 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000268967 chr4 49548564 49548855 - AC119751.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268970 chr19 52597699 52598887 - AC022150.2 sense_intronic 11 19 11 24 34 57 39 20 20 ENSG00000268975 chr19 40771648 40796943 + MIA-RAB4B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000268981 chr19 22665552 22716991 - AC024563.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268983 chr19 18568506 18569375 - AC005253.2 antisense 178 170 199 250 296 292 206 243 176 ENSG00000268985 chr19 17009189 17013460 + AC020908.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000268987 chr19 41399372 41400365 + AC011462.3 sense_intronic 0 0 0 0 2 0 0 0 0 ENSG00000268988 chrX 143711955 143721423 - SPANXN2 protein_coding 494119 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000268992 chr19 23384530 23385293 + CDC42EP3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268993 chr1 121142051 121142438 - RPL22P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268994 chrX 72781865 72782660 - FAM236B protein_coding 100132304 0 0 0 0 0 0 0 0 0 ENSG00000268995 chr19 21188598 21188953 + VN1R82P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000268996 chr9 137084946 137086817 - MAN1B1-DT antisense 100289341 3 2 0 5 2 3 10 3 4 ENSG00000268997 chr19 41638569 41638899 - DNAJC19P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269001 chr19 53197111 53214522 + AC092070.2 transcribed_unprocessed_pseudogene 392 273 298 312 386 316 407 318 238 ENSG00000269009 chr19 49255472 49256102 - SLC6A21P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269012 chr19 20961057 20965140 + KRT18P40 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269014 chr19 46826895 46828440 - AC008622.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269019 chr19 18940322 18946831 + HOMER3-AS1 antisense 0 2 1 1 3 2 3 5 6 ENSG00000269021 chr19 51280862 51283022 + AC063977.5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269025 chr19 22605739 22608211 + AC011467.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269026 chr19 57682045 57753575 + AC003006.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269028 chr3 96617188 96618236 - MTRNR2L12 protein_coding 100462981 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0048019, receptor antagonist activity, GO:2000272, GO:1900118, negative regulation of signaling receptor activity, negative regulation of execution phase of apoptosis, 6 7 7 12 7 6 6 8 11 ENSG00000269032 chr19 58586158 58586356 + AC016629.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269035 chr19 17436611 17460804 - AC010319.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269037 chr19 34905315 34908188 + LINC01838 lincRNA 100652911 0 0 0 0 0 0 0 0 0 ENSG00000269038 chr11 64778954 64779405 + AP001462.1 lincRNA 3 6 9 6 6 11 12 3 2 ENSG00000269040 chr19 20784596 20785152 - BNIP3P24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269043 chr19 20432552 20528615 + AC008554.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269044 chr19 16633797 16635269 - AC024075.2 sense_intronic 24 31 30 42 49 11 40 39 34 ENSG00000269050 chr19 38870159 38873763 + AC011455.1 antisense 24 36 32 41 50 70 53 31 63 ENSG00000269053 chr19 17419305 17419774 - AC010319.3 antisense 3 3 0 3 3 4 2 4 6 ENSG00000269054 chr19 58362585 58366591 + AC012313.6 antisense 0 0 0 0 1 0 1 0 0 ENSG00000269055 chr19 20267817 20268391 + BNIP3P18 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269058 chr19 16479057 16496192 - CALR3 protein_coding The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]. 125972 GO:0005789, GO:0005788, GO:0005635, endoplasmic reticulum membrane, endoplasmic reticulum lumen, nuclear envelope, GO:0051082, GO:0044183, GO:0030246, GO:0005509, unfolded protein binding, protein folding chaperone, carbohydrate binding, calcium ion binding, GO:0030968, GO:0030154, GO:0008150, GO:0007283, GO:0006457, endoplasmic reticulum unfolded protein response, cell differentiation, biological_process, spermatogenesis, protein folding, 0 0 0 0 2 0 0 4 0 ENSG00000269066 chr19 17095418 17099307 - AC020908.3 antisense 8 1 2 5 6 13 7 7 7 ENSG00000269067 chr19 22975468 23003176 - ZNF728 protein_coding 388523 GO:0005634, nucleus, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000269068 chr2 219559083 219559626 + AC009955.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269069 chr19 40023384 40025502 - AC007842.1 processed_pseudogene 4 7 7 10 5 16 6 9 9 ENSG00000269072 chr19 51152923 51181966 - AC063977.6 antisense 101928517 79 124 127 43 110 60 62 113 48 ENSG00000269082 chr19 52956041 52981654 - AC010328.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000269085 chr19 16565551 16566330 + AC008764.5 antisense 3 5 8 1 10 12 2 4 4 ENSG00000269086 chr19 34837889 34855304 + AC008555.2 lincRNA 4 4 19 18 2 12 30 12 18 ENSG00000269091 chr19 50043196 50051062 - AC010624.3 antisense 18 10 15 17 16 25 32 12 16 ENSG00000269095 chr19 17235940 17255448 - AC010646.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269096 chrX 135759846 135768191 - CT45A3 protein_coding 441519 GO:0032039, integrator complex, GO:0005515, protein binding, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000269097 chr19 57664280 57665039 + TPRG1LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269099 chr13 25017404 25017536 + LSP1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269102 chr19 52284780 52297920 - AC010320.3 antisense 0 1 1 4 2 0 3 0 0 ENSG00000269103 chr20 49932795 49933078 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000269106 chr19 58475355 58475763 - AC012313.7 antisense 13 16 8 2 15 0 6 6 3 ENSG00000269107 chr19 23257255 23274232 - AC092329.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269110 chr19 20553792 20661583 - AC010636.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269113 chr1 47760528 47996895 - TRABD2B protein_coding 388630 GO:0031301, GO:0031301, GO:0016020, GO:0005887, GO:0005887, integral component of organelle membrane, integral component of organelle membrane, membrane, integral component of plasma membrane, integral component of plasma membrane, GO:0046872, GO:0017147, GO:0017147, GO:0017147, GO:0005515, GO:0004222, GO:0004222, metal ion binding, Wnt-protein binding, Wnt-protein binding, Wnt-protein binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:1904808, GO:0031334, GO:0030178, GO:0030178, GO:0016055, GO:0006508, positive regulation of protein oxidation, positive regulation of protein-containing complex assembly, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway, Wnt signaling pathway, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000269118 chr19 53299051 53308644 - FAM90A28P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269119 chr19 41829692 41830938 + HNRNPA1P52 processed_pseudogene 39 46 32 45 76 30 49 34 23 ENSG00000269124 chr19 46320197 46340004 - AC007193.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269125 chr13 113165002 113165183 - AL137002.1 antisense 0 0 0 0 0 1 0 0 5 ENSG00000269130 chr19 51560122 51560590 - AC020914.4 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000269136 chr19 21800480 21801266 + BRI3BPP1 processed_pseudogene 641367 0 0 0 0 0 0 0 0 0 ENSG00000269138 chr19 22463922 22473036 + ZNF209P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269139 chr19 7926001 7926810 + AC010336.5 processed_transcript 0 0 0 0 0 2 0 0 0 ENSG00000269145 chr19 18144522 18151691 - AC007192.2 antisense 401 449 531 444 633 497 422 422 423 ENSG00000269148 chr19 45830164 45831108 + AC092301.1 antisense 15 23 14 12 3 14 12 3 8 ENSG00000269151 chr19 46390515 46390852 - AC007193.3 antisense 4 0 2 1 3 2 2 3 1 ENSG00000269153 chr19 7879445 7880120 - LYPLA2P2 processed_pseudogene 0 0 0 0 0 0 0 0 3 ENSG00000269154 chr19 20062755 20063320 + BNIP3P13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269155 chr6 167795530 167798248 + AL009178.2 lincRNA 441179 0 0 0 0 0 0 0 0 0 ENSG00000269161 chr19 17518330 17520565 - AC010618.2 antisense 0 4 0 0 3 0 1 1 0 ENSG00000269172 chr19 39134882 39136463 - AC011443.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269176 chr11 62786023 62786785 - AP001160.3 antisense 13 7 8 13 14 11 5 3 6 ENSG00000269177 chr19 43553445 43555494 + L34079.2 antisense 25 21 26 9 14 8 17 16 5 ENSG00000269179 chr19 49909501 49958391 - AC011452.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269181 chr19 51442379 51442650 + AC020914.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269186 chr16 86196181 86199720 + LINC01082 lincRNA 100506542 0 0 0 0 0 0 0 0 0 ENSG00000269188 chr19 39584042 39586489 + AC011500.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269189 chr13 98233650 98234700 + AL445223.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269190 chr19 38941401 38975910 - FBXO17 protein_coding This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 115290 GO:0019005, GO:0019005, GO:0005829, GO:0005737, SCF ubiquitin ligase complex, SCF ubiquitin ligase complex, cytosol, cytoplasm, GO:0061630, GO:0005515, GO:0005515, ubiquitin protein ligase activity, protein binding, protein binding, GO:0043687, GO:0031146, GO:0030433, GO:0006516, GO:0000209, post-translational protein modification, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, ubiquitin-dependent ERAD pathway, glycoprotein catabolic process, protein polyubiquitination, 0 0 1 0 0 0 0 0 0 ENSG00000269191 chr19 18532908 18536188 + AC005387.2 antisense 13 21 27 14 29 18 24 21 20 ENSG00000269194 chr19 49808933 49809738 + AC006942.1 antisense 89 112 90 85 140 104 122 120 111 ENSG00000269199 chr19 22043500 22050005 - AC003973.1 lincRNA 0 0 0 1 0 0 1 0 0 ENSG00000269210 chr2 38959287 38960342 - AC019171.1 antisense 375196 0 0 0 0 0 0 0 0 0 ENSG00000269220 chr22 17777322 17779481 + LINC00528 lincRNA 200298 574 604 891 174 345 1058 582 438 1262 ENSG00000269226 chrX 104063871 104076212 - TMSB15B protein_coding 286527 GO:0005856, GO:0005737, GO:0005575, cytoskeleton, cytoplasm, cellular_component, GO:0003785, GO:0003674, actin monomer binding, molecular_function, GO:0042989, GO:0030335, GO:0030334, GO:0007015, sequestering of actin monomers, positive regulation of cell migration, regulation of cell migration, actin filament organization, 0 0 0 1 0 0 0 0 0 ENSG00000269228 chr19 7665717 7666476 + RPS27AP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269235 chr19 51949134 51981367 + ZNF350-AS1 antisense 101669766 4 3 4 9 7 17 7 7 7 ENSG00000269236 chr19 58166166 58167145 + AC008751.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269237 chr19 21405159 21491266 + AC010615.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269242 chr19 12643831 12648397 - AC010422.3 protein_coding 0 2 0 0 0 0 0 1 0 ENSG00000269243 chr19 16123661 16139892 - AC008894.2 antisense 891 903 978 466 777 595 550 702 590 ENSG00000269244 chr19 8728735 8729204 - RPL23AP78 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269246 chr19 39341773 39341945 - AC011445.2 lincRNA 7 6 6 5 9 2 1 5 4 ENSG00000269253 chr19 51198855 51201449 + SIGLEC21P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269256 chr10 76558350 76560994 - AC024603.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269266 chr19 41605341 41605671 - DNAJC19P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269271 chr19 54589441 54590287 + AC245036.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269274 chr19 20295089 20303794 + AC078899.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269275 chr19 55377579 55378125 - AC020922.3 antisense 0 0 0 0 1 0 0 0 0 ENSG00000269281 chrX 52770809 52771080 + AC244505.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269288 chr19 53240675 53241913 + AC092070.3 antisense 3 0 2 0 2 0 1 2 0 ENSG00000269289 chr19 23919081 23957930 - AC011503.1 antisense 100505851 0 0 0 0 0 0 1 1 0 ENSG00000269292 chr19 46609277 46610779 - AC093503.2 antisense 276 266 253 94 196 150 125 220 85 ENSG00000269293 chr6 28121795 28137293 - ZSCAN16-AS1 antisense 100129195 20 14 23 18 39 20 14 25 14 ENSG00000269296 chr19 40090754 40094406 + AC005614.1 antisense 5 6 4 0 0 0 6 2 0 ENSG00000269300 chr19 8821501 8824110 + AC008734.1 antisense 2 5 2 3 6 13 5 5 13 ENSG00000269303 chr19 34998233 35000170 - AC020907.3 antisense 0 2 1 18 8 1 11 4 14 ENSG00000269304 chr19 57826461 57826778 - FKBP1AP1 processed_pseudogene 1 0 0 0 0 1 1 2 0 ENSG00000269307 chr19 17267418 17282966 + AC010463.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269313 chrX 49162564 49168483 + MAGIX protein_coding 79917 8 9 25 18 24 26 7 10 15 ENSG00000269316 chr19 22609606 22610601 + AC011467.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269318 chr19 4356637 4358448 - AC007292.2 antisense 26 22 21 31 55 42 59 26 29 ENSG00000269320 chr19 23602567 23603106 + VN1R93P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269321 chr19 48145908 48147413 + AC011466.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269332 chr19 22596257 22603550 + GOLGA2P9 transcribed_unprocessed_pseudogene 440518 0 0 0 0 0 0 0 0 0 ENSG00000269335 chrX 154541199 154565046 + IKBKG protein_coding This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]. 8517 GO:0072686, GO:0032991, GO:0008385, GO:0008385, GO:0008385, GO:0005829, GO:0005829, GO:0005737, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000922, GO:0000151, mitotic spindle, protein-containing complex, IkappaB kinase complex, IkappaB kinase complex, IkappaB kinase complex, cytosol, cytosol, cytoplasm, cytoplasm, nucleoplasm, nucleus, nucleus, spindle pole, ubiquitin ligase complex, GO:1990459, GO:1990450, GO:0070530, GO:0046982, GO:0046872, GO:0044877, GO:0042975, GO:0042803, GO:0042802, GO:0031625, GO:0019904, GO:0005515, transferrin receptor binding, linear polyubiquitin binding, K63-linked polyubiquitin modification-dependent protein binding, protein heterodimerization activity, metal ion binding, protein-containing complex binding, peroxisome proliferator activated receptor binding, protein homodimerization activity, identical protein binding, ubiquitin protein ligase binding, protein domain specific binding, protein binding, GO:1901215, GO:0070498, GO:0070423, GO:0065003, GO:0051650, GO:0051403, GO:0051092, GO:0051092, GO:0050852, GO:0050852, GO:0045944, GO:0045087, GO:0043276, GO:0043123, GO:0043123, GO:0043123, GO:0043122, GO:0038095, GO:0035666, GO:0016579, GO:0016239, GO:0016032, GO:0010803, GO:0009615, GO:0007254, GO:0007249, GO:0006974, GO:0006974, GO:0006955, GO:0006954, GO:0006915, GO:0002756, GO:0002479, GO:0002223, GO:0000187, negative regulation of neuron death, interleukin-1-mediated signaling pathway, nucleotide-binding oligomerization domain containing signaling pathway, protein-containing complex assembly, establishment of vesicle localization, stress-activated MAPK cascade, positive regulation of NF-kappaB transcription factor activity, positive regulation of NF-kappaB transcription factor activity, T cell receptor signaling pathway, T cell receptor signaling pathway, positive regulation of transcription by RNA polymerase II, innate immune response, anoikis, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of I-kappaB kinase/NF-kappaB signaling, regulation of I-kappaB kinase/NF-kappaB signaling, Fc-epsilon receptor signaling pathway, TRIF-dependent toll-like receptor signaling pathway, protein deubiquitination, positive regulation of macroautophagy, viral process, regulation of tumor necrosis factor-mediated signaling pathway, response to virus, JNK cascade, I-kappaB kinase/NF-kappaB signaling, cellular response to DNA damage stimulus, cellular response to DNA damage stimulus, immune response, inflammatory response, apoptotic process, MyD88-independent toll-like receptor signaling pathway, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, activation of MAPK activity, 776 497 645 159 355 323 244 309 233 ENSG00000269343 chr19 57819741 57846238 + ZNF587B protein_coding 100293516 GO:0000785, chromatin, GO:0046872, GO:0001227, GO:0000981, GO:0000977, metal ion binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 91 160 167 182 278 322 202 175 212 ENSG00000269345 chr19 22174766 22175191 - VN1R85P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269349 chr19 52511282 52512342 - AC022150.3 antisense 0 0 0 3 0 0 0 1 0 ENSG00000269350 chr19 17360932 17362753 + AC010463.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269352 chr19 49856970 49859289 - PTOV1-AS2 antisense 368 495 398 481 643 386 420 488 352 ENSG00000269353 chr19 40946347 40947450 + AC092071.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269354 chr19 41639659 41640602 - AC243960.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269356 chr13 113008778 113009424 + AL356740.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269364 chr19 22532626 22533494 + LINC01233 lincRNA 100128139 0 0 0 0 0 0 0 0 0 ENSG00000269365 chr18 47878295 47882444 + AC120349.1 antisense 1 2 2 3 3 4 2 2 1 ENSG00000269371 chr19 7519916 7520460 - AC008878.4 antisense 1 2 2 1 2 1 0 1 6 ENSG00000269373 chr19 20838515 20847417 - AC008739.2 unprocessed_pseudogene 2 0 0 2 2 1 0 0 0 ENSG00000269374 chr19 42485076 42485714 - AC011497.2 processed_pseudogene 26 25 28 28 15 26 26 22 19 ENSG00000269376 chr13 113009671 113010319 + AL356740.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269378 chr19 14621634 14622242 - AC022149.1 processed_pseudogene 25 39 34 71 67 57 36 36 34 ENSG00000269383 chr2 100370255 100370545 - AC012493.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269385 chr19 6898299 6898686 + AC020895.1 unprocessed_pseudogene 2 1 6 0 0 0 0 0 0 ENSG00000269386 chr19 8374373 8390685 - RAB11B-AS1 antisense 100507567 170 189 198 113 147 125 131 129 89 ENSG00000269387 chr6 41764292 41764460 - AL365205.3 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000269388 chr19 51594561 51606150 + AC018755.3 transcribed_processed_pseudogene 0 0 0 1 2 0 5 4 3 ENSG00000269391 chr3 16530771 16531802 + AC010139.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269392 chr19 50365880 50369331 - AC008655.2 antisense 0 1 0 0 1 0 2 0 0 ENSG00000269397 chr19 23927788 23929287 + AC011503.2 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000269399 chr19 16542746 16544814 + AC008764.6 lincRNA 10 6 12 7 5 20 5 7 5 ENSG00000269400 chr19 8833065 8833541 + AC008734.2 sense_intronic 0 0 0 0 5 0 0 0 0 ENSG00000269403 chr19 51350373 51368099 - AC008750.8 protein_coding 0 0 0 0 0 0 0 0 1 ENSG00000269404 chr19 50418938 50431313 + SPIB protein_coding The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. 6689 GO:0005737, GO:0005634, GO:0000785, cytoplasm, nucleus, chromatin, GO:1990837, GO:0005515, GO:0001228, GO:0000981, GO:0000981, GO:0000978, sequence-specific double-stranded DNA binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0030154, GO:0006357, positive regulation of transcription by RNA polymerase II, cell differentiation, regulation of transcription by RNA polymerase II, 4 4 1 11 11 7 3 10 4 ENSG00000269405 chrX 102247161 102326719 + NXF2 protein_coding This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog of this gene located adjacent on chromosome X and on the opposite strand. [provided by RefSeq, Aug 2013]. 56001 GO:0042272, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear RNA export factor complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0050658, GO:0016973, GO:0007275, GO:0006406, GO:0006406, RNA transport, poly(A)+ mRNA export from nucleus, multicellular organism development, mRNA export from nucleus, mRNA export from nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000269416 chr19 23399233 23416075 - LINC01224 lincRNA 104472717 0 0 0 3 9 16 1 1 1 ENSG00000269419 chr19 16712317 16712434 + AC008737.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269420 chr19 48061371 48064945 + PLA2G4C-AS1 antisense 106144526 0 0 0 1 0 0 0 0 0 ENSG00000269421 chr19 23935220 23936173 + ZNF92P3 unprocessed_pseudogene 0 0 0 0 0 6 0 0 0 ENSG00000269425 chr19 4339577 4343491 + AC104521.1 antisense 0 0 0 0 0 0 4 0 0 ENSG00000269427 chr19 16630743 16643942 + AC024075.3 antisense 14 15 14 13 26 11 6 20 13 ENSG00000269431 chr19 23380317 23380876 + BNIP3P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269433 chrX 154257538 154271805 + OPN1MW3 protein_coding 101060233 GO:0005887, GO:0001750, integral component of plasma membrane, photoreceptor outer segment, GO:0008020, G protein-coupled photoreceptor activity, GO:0071482, GO:0018298, GO:0009584, GO:0007602, GO:0007601, GO:0007186, cellular response to light stimulus, protein-chromophore linkage, detection of visible light, phototransduction, visual perception, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000269437 chrX 102360396 102439932 - NXF2B protein_coding This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog of this gene located adjacent on chromosome X and on the opposite strand. [provided by RefSeq, Jun 2015]. 728343 GO:0042272, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, nuclear RNA export factor complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, GO:0005515, GO:0003723, GO:0003723, protein binding, RNA binding, RNA binding, GO:0050658, GO:0016973, GO:0007275, GO:0006406, GO:0006406, RNA transport, poly(A)+ mRNA export from nucleus, multicellular organism development, mRNA export from nucleus, mRNA export from nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000269439 chr19 17488990 17511889 - AC010618.3 lincRNA 100507551 102 70 84 26 72 53 46 75 57 ENSG00000269444 chr19 6386762 6390400 - AC011491.2 sense_overlapping 2 1 0 10 22 17 11 3 5 ENSG00000269445 chr19 38526954 38528555 - AC067969.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269446 chr7 157109980 157111072 + AC006967.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269458 chr19 22925377 22925547 + AC022145.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269460 chr19 39685244 39694577 + AC005515.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269463 chr11 62807682 62808063 - AP001160.4 sense_intronic 14 21 15 35 36 43 34 41 53 ENSG00000269466 chr5 17654870 17655847 - H3.Y protein_coding 391769 GO:0005634, GO:0000786, nucleus, nucleosome, GO:0046982, GO:0031492, protein heterodimerization activity, nucleosomal DNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000269469 chr19 49462752 49486231 + AC010619.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269471 chr19 23204010 23204556 + AC092329.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269473 chr19 58440448 58445849 + AC012313.8 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000269475 chrX 152682810 152683842 + AC244102.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269476 chr19 57876765 57916591 - AC010326.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269480 chr19 17207138 17208010 - AC020913.2 antisense 339 411 458 343 413 377 324 312 341 ENSG00000269481 chr19 17414257 17422324 - AC010319.4 antisense 24 14 18 23 26 15 36 12 11 ENSG00000269482 chr16 90631 91102 + Z69720.1 antisense 0 0 0 1 0 0 0 0 0 ENSG00000269483 chr19 51842878 51843315 - AC006272.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269486 chr19 38935297 38938632 - ERVK9-11 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269487 chr19 46728603 46732700 + AC008635.1 antisense 129 101 153 60 117 118 71 106 79 ENSG00000269489 chr1 151798054 151798602 + AL589765.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269495 chr19 50950185 50963649 + AC011483.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269502 chrX 72872025 72943814 - DMRTC1 protein_coding 63947 GO:0005634, GO:0000785, nucleus, chromatin, GO:0000981, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000269504 chr19 22017959 22036315 - AC003973.2 lincRNA 0 0 0 2 0 0 1 0 0 ENSG00000269505 chr19 22128627 22130318 - ZNF92P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269506 chr4 54059597 54061210 + AC110792.2 antisense 9 10 5 2 2 3 8 2 3 ENSG00000269509 chr19 22773853 22774424 + BNIP3P34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269514 chr12 48198357 48230275 + AC024257.3 antisense 8 6 6 7 5 30 6 4 20 ENSG00000269516 chr19 15564074 15584709 + CYP4F23P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269519 chr19 39631300 39631446 - AC005176.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269524 chr19 54224523 54224881 + AC245052.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269526 chr19 53013921 53016122 + ERVV-1 protein_coding Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. The gene's envelope protein is expressed in the human placenta but is truncated at its C-terminus. [provided by RefSeq, Oct 2015]. 147664 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000269533 chr19 57389884 57419994 + AC003002.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269534 chr19 48118432 48127706 + AC011466.3 antisense 10 5 17 18 4 11 6 5 18 ENSG00000269535 chr19 52300693 52345229 - AC010320.4 antisense 0 1 0 6 0 3 0 1 0 ENSG00000269540 chr19 50058882 50060232 - AC010624.4 processed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000269543 chr19 23068473 23071476 - AC074135.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269546 chr19 6562123 6563848 - CLIC4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269547 chr19 38915404 38949855 - AC011455.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269552 chr19 14852032 14852944 - OR7A8P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269553 chr19 35330843 35331920 + U62631.1 sense_intronic 2 2 1 0 3 0 0 1 0 ENSG00000269556 chrX 149596556 149631912 - TMEM185A protein_coding The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]. 84548 GO:0030425, GO:0030425, GO:0016021, dendrite, dendrite, integral component of membrane, GO:0005515, protein binding, 46 56 68 35 44 64 50 40 54 ENSG00000269559 chr4 74156511 74158373 - AC093677.2 antisense 1 1 2 3 6 2 4 4 13 ENSG00000269560 chr19 12529768 12532973 - AC010422.4 sense_intronic 1 0 7 5 3 3 12 3 2 ENSG00000269564 chr19 53788782 53789168 + AC008753.2 lincRNA 22 16 28 20 31 52 31 23 46 ENSG00000269565 chr19 50758382 50759192 + GPR32P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269570 chr11 58611119 58612642 - AP001350.1 antisense 112 126 155 31 63 74 74 76 53 ENSG00000269575 chr19 22140532 22141117 + MTDHP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269576 chr19 46809585 46810183 + HNRNPMP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269578 chr19 16586905 16587985 - AC008764.7 sense_intronic 1 0 3 5 5 3 3 7 0 ENSG00000269580 chr19 51508573 51509311 + SIGLEC27P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269583 chr19 43574638 43575618 + L34079.3 antisense 36 40 46 25 26 22 26 28 32 ENSG00000269584 chr19 39534463 39535021 + TDGF1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269586 chrX 135881063 135889086 - CT45A10 protein_coding 102723631 GO:0032039, integrator complex, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000269588 chr19 39553034 39555356 + AC011500.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269590 chr19 12664828 12669397 - AC010422.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269599 chr13 98329655 98333236 - AL161896.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269600 chr19 58593896 58599355 - AC016629.2 antisense 4 9 9 7 4 3 5 8 9 ENSG00000269604 chr19 4791745 4795559 - AC005523.2 antisense 189 132 203 173 308 252 136 195 146 ENSG00000269608 chr19 53616802 53617254 + AC011487.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269609 chr10 102449817 102461106 + RPARP-AS1 processed_transcript 100505761 18 10 19 30 6 24 29 16 33 ENSG00000269615 chr19 21940820 21941533 + MTDHP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269621 chr1 151755541 151759911 + AL589765.7 antisense 5 0 3 1 4 18 8 3 6 ENSG00000269622 chr16 35506592 35507170 - TP53TG3HP transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269635 chr19 15221015 15222297 - AC004257.1 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000269637 chr19 46219423 46219920 + RPL12P41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269646 chr19 52923382 52924075 + AC010487.2 lincRNA 1 2 4 2 9 0 0 2 2 ENSG00000269651 chr19 8173272 8175567 + AC022146.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269652 chr19 41221426 41222051 - AC011510.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269653 chr19 38184376 38186265 + AC011479.3 sense_intronic 0 0 0 0 1 0 0 1 0 ENSG00000269656 chr19 47757036 47768840 - NOP53-AS1 antisense 106144593 1 0 0 6 2 10 2 1 4 ENSG00000269662 chr19 23798924 23799477 - BNIP3P39 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269667 chr16 85981750 85984881 + AC092723.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000269678 chr19 14886839 14887115 - OR7A18P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269680 chr19 6748293 6751467 - AC008760.1 antisense 1 1 0 4 1 3 7 1 2 ENSG00000269681 chr19 51155288 51155624 - AC063977.7 processed_pseudogene 0 7 0 0 9 3 1 7 0 ENSG00000269688 chr19 38844729 38845499 - AC008982.2 sense_intronic 35 36 40 86 95 104 88 59 68 ENSG00000269692 chr9 39631046 39632416 + FKBP4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269693 chr19 12525720 12580975 - AC010422.6 protein_coding 2 1 1 2 7 6 6 4 7 ENSG00000269694 chr19 18881680 18883376 + AC005197.1 antisense 0 0 0 3 0 0 0 0 0 ENSG00000269696 chr19 56545566 56567411 - AC005498.3 antisense 1 1 0 0 0 1 0 0 0 ENSG00000269699 chr19 56774547 56840729 - ZIM2 protein_coding In human, ZIM2 and PEG3 (GeneID:5178) are two distinct genes that share a set of 5' exons and have a common promoter, and both genes are paternally expressed. Alternative splicing events connect the shared exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. This is in contrast to mouse and cow, where ZIM2 and PEG3 genes do not share exons in common, and the imprinting status of ZIM2 is also not conserved amongst mammals. Additional 5' alternatively spliced transcripts encoding the same protein have been found for the human ZIM2 gene. [provided by RefSeq, Oct 2010]. 23619 GO:0005575, GO:0000785, cellular_component, chromatin, GO:0008270, GO:0005515, GO:0001227, GO:0000981, GO:0000977, zinc ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, GO:0000122, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000269706 chr19 49050217 49050846 - AC008687.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269707 chr2 104853285 104926052 + AC018730.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000269711 chr19 7678501 7682854 + AC008763.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269713 chr1 149054027 149103561 - NBPF9 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]. 400818 GO:0005737, cytoplasm, 64 61 138 104 88 93 57 35 49 ENSG00000269720 chr19 17390509 17394158 - CCDC194 protein_coding 110806280 0 5 0 2 6 9 3 4 3 ENSG00000269729 chr19 46163893 46180647 - AC006262.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269732 chr1 439870 440232 + WBP1LP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269736 chr19 17452211 17452969 - AC010319.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269737 chr1 1671990 1674397 + AL691432.1 transcribed_processed_pseudogene 293 161 50 278 240 66 376 125 41 ENSG00000269741 chr19 50996018 51009581 - AC011473.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000269742 chr19 22065828 22066398 - BNIP3P29 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000269743 chrX 104099214 104157027 - SLC25A53 protein_coding 401612 GO:0016021, GO:0005743, integral component of membrane, mitochondrial inner membrane, 79 60 104 52 69 78 63 68 51 ENSG00000269745 chr19 46228964 46230388 - AC006262.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269749 chr19 40048757 40090925 - AC005614.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000269752 chr19 17613722 17614430 + AC008761.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269755 chr19 12433103 12484816 - AC008758.6 protein_coding 0 0 0 0 3 0 0 0 0 ENSG00000269758 chr19 53267870 53270932 - AC092070.4 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000269761 chr19 7005012 7006074 - FLJ25758 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269763 chr19 7813615 7814425 - EXOSC3P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269765 chr19 15515342 15516836 - AC011492.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269776 chr19 52425863 52426202 - DPPA5P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269779 chr19 20691336 20697615 + AC010329.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269782 chr19 15449548 15449608 + MIR1470 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302127 0 0 0 0 0 0 0 0 0 ENSG00000269786 chr19 56922018 56922213 + AC044792.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269787 chr19 14903232 14904138 - OR7A3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269791 chrX 48402078 48411910 - SSX4B protein_coding The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4B, represents the more centromeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. 548313 GO:0005634, nucleus, GO:0005515, protein binding, GO:0006355, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000269792 chr19 39532412 39534422 + AC011500.3 antisense 1 1 2 1 5 3 2 1 0 ENSG00000269793 chr19 56765344 56799646 + ZIM2-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269794 chr19 58319277 58320489 + AC010642.1 processed_pseudogene 0 0 0 0 1 5 0 0 0 ENSG00000269796 chr19 22422513 22426045 + AC011516.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269799 chr19 16801426 16801714 + AC008737.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269800 chr19 41521043 41521989 - PLEKHA3P1 processed_pseudogene 0 8 13 0 6 0 0 2 0 ENSG00000269802 chr19 6343761 6362149 - AC011491.3 antisense 0 1 1 3 0 0 0 0 0 ENSG00000269806 chr19 47615699 47626395 - BICRA-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269807 chr19 4347244 4354057 - AC007292.3 antisense 8 16 12 13 13 14 23 11 17 ENSG00000269811 chr19 34645662 34646070 + SCGB2B3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269813 chr19 7959123 7960012 + AC010336.6 antisense 0 1 3 0 2 7 2 1 4 ENSG00000269814 chr19 48513207 48513660 - AC008403.3 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000269815 chr19 17296196 17296695 - AC010463.3 sense_intronic 0 0 3 0 1 0 1 7 1 ENSG00000269821 chr11 2608328 2699994 - KCNQ1OT1 antisense Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]. 10984 GO:0005730, nucleolus, GO:0006342, chromatin silencing, 232 252 367 159 254 339 336 212 286 ENSG00000269825 chr19 52650437 52653284 - AC022150.4 sense_intronic 2 11 7 13 2 24 17 3 6 ENSG00000269826 chr16 86347387 86349611 + AC092327.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269833 chrX 135236895 135237408 + AC234771.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269834 chr19 52388842 52397766 - ZNF528-AS1 processed_transcript 12 3 10 13 4 13 11 2 8 ENSG00000269836 chr19 17177511 17178476 - AC020913.3 antisense 5 9 11 2 6 2 1 7 3 ENSG00000269837 chr19 23255053 23257939 - IPO5P1 transcribed_processed_pseudogene 4 2 3 5 1 9 3 5 17 ENSG00000269839 chr19 21225098 21245241 - AC010620.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269842 chr19 53761961 53764199 + AC011453.1 lincRNA 1 0 0 0 0 1 0 0 0 ENSG00000269843 chr19 40831221 40837210 - AC008537.2 lincRNA 54 44 34 30 23 47 75 31 27 ENSG00000269845 chr19 21750747 21753438 + AC092364.2 transcribed_processed_pseudogene 641367 2 0 0 3 0 0 1 0 0 ENSG00000269846 chr20 37095785 37097178 + AL136172.1 antisense 1 1 4 2 0 0 7 0 0 ENSG00000269848 chr4 49524030 49524185 - AC119751.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269855 chr19 58396090 58397079 + RNF225 protein_coding 646862 GO:0016021, integral component of membrane, GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000269858 chr19 40798996 40808433 + EGLN2 protein_coding The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]. 112398 GO:0005737, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0031545, GO:0031545, GO:0031543, GO:0031418, GO:0019826, GO:0016706, GO:0008198, GO:0008198, GO:0008198, GO:0005515, peptidyl-proline 4-dioxygenase activity, peptidyl-proline 4-dioxygenase activity, peptidyl-proline dioxygenase activity, L-ascorbic acid binding, oxygen sensor activity, 2-oxoglutarate-dependent dioxygenase activity, ferrous iron binding, ferrous iron binding, ferrous iron binding, protein binding, GO:0071456, GO:0061418, GO:0055114, GO:0045732, GO:0045454, GO:0043523, GO:0030520, GO:0018401, GO:0018401, GO:0001666, GO:0001558, cellular response to hypoxia, regulation of transcription from RNA polymerase II promoter in response to hypoxia, oxidation-reduction process, positive regulation of protein catabolic process, cell redox homeostasis, regulation of neuron apoptotic process, intracellular estrogen receptor signaling pathway, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, response to hypoxia, regulation of cell growth, 632 808 626 1164 1386 1026 1085 944 943 ENSG00000269859 chr19 55475983 55476482 - AC008735.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269867 chr19 57867038 57868172 - AC010326.3 sense_intronic 95 92 110 144 136 133 135 112 119 ENSG00000269873 chr19 54438010 54438346 - AC245884.10 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269877 chr19 53787597 53788169 - AC008753.3 lincRNA 23 4 13 13 33 21 23 18 21 ENSG00000269881 chr16 249547 269943 + AC004754.1 protein_coding 0 0 0 0 1 0 0 0 0 ENSG00000269883 chr14 77140683 77142996 + AC007375.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269885 chr19 20758440 20758952 + VN1R79P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000269886 chr3 9812762 9813097 - AC022382.1 antisense 76 63 76 81 79 98 64 70 76 ENSG00000269887 chr1 164680085 164680799 + AL391001.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269888 chr3 161429112 161429613 + AC112491.1 lincRNA 5 6 6 19 3 19 13 21 13 ENSG00000269889 chr3 169769649 169772043 + AC078802.1 antisense 0 2 1 4 0 3 1 3 3 ENSG00000269890 chr1 228270443 228274397 - AL353593.1 antisense 2 0 5 12 0 29 9 1 3 ENSG00000269891 chr10 97153045 97292637 - ARHGAP19-SLIT1 protein_coding 3 2 2 0 1 4 3 4 5 ENSG00000269892 chr12 6742985 6743641 + AC125494.2 lincRNA 15 12 10 19 30 25 6 19 9 ENSG00000269893 chr4 118278709 118279823 + SNHG8 lincRNA 100093630 23 18 58 188 115 245 141 81 141 ENSG00000269894 chr3 9935706 9936258 + AC018809.1 sense_intronic 2 2 2 9 4 23 5 4 4 ENSG00000269895 chr11 86833068 86837615 + AP000654.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269896 chr1 2350414 2352820 - AL513477.1 transcribed_processed_pseudogene 100129534 8 9 5 15 25 21 6 11 4 ENSG00000269897 chr10 22316388 22329542 + COMMD3-BMI1 protein_coding This locus represents naturally occurring read-through transcription between the neighboring COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]. 100532731 0 0 0 0 0 0 0 0 0 ENSG00000269898 chr16 85743287 85744225 + AC018695.2 antisense 0 0 3 0 0 0 0 1 0 ENSG00000269899 chr8 11846154 11846391 - AC025857.2 sense_intronic 1 5 1 19 22 15 21 17 9 ENSG00000269900 chr9 35657751 35658018 - RMRP lincRNA This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]. 6023 GO:1990572, GO:0005739, GO:0000172, TERT-RMRP complex, mitochondrion, ribonuclease MRP complex, GO:0098680, GO:0070182, GO:0003968, GO:0000171, template-free RNA nucleotidyltransferase, DNA polymerase binding, RNA-directed 5'-3' RNA polymerase activity, ribonuclease MRP activity, GO:1903704, GO:0090501, GO:0062103, GO:0030422, GO:0006364, GO:0001172, negative regulation of production of siRNA involved in RNA interference, RNA phosphodiester bond hydrolysis, double-stranded RNA biosynthetic process, production of siRNA involved in RNA interference, rRNA processing, transcription, RNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000269901 chr16 87362536 87367476 + AC010531.5 antisense 0 2 0 0 1 4 0 1 0 ENSG00000269902 chrX 45764772 45765299 - AC234772.2 lincRNA 1 0 2 5 2 18 5 5 16 ENSG00000269903 chr12 57814494 57814926 + AC025165.4 lincRNA 3 2 1 6 14 5 7 8 2 ENSG00000269904 chrX 73524275 73563085 - MAP2K4P1 transcribed_processed_pseudogene 139201 0 2 1 0 0 1 0 0 0 ENSG00000269906 chr14 50662511 50663178 - AL606834.1 sense_intronic 0 1 1 0 7 0 0 2 0 ENSG00000269907 chr9 96910076 96910405 + AL158827.2 processed_pseudogene 2 5 1 2 0 0 4 2 0 ENSG00000269910 chr14 103694516 103695050 - AL049840.2 antisense 55 80 133 44 80 54 46 70 72 ENSG00000269911 chrX 72777608 72779097 + FAM226B sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269915 chr11 708564 727047 - AP006621.4 antisense 3 5 0 3 0 0 3 4 2 ENSG00000269918 chr8 11104691 11106704 - AF131215.6 sense_intronic 2 2 11 1 3 5 6 3 11 ENSG00000269919 chr6 106100140 106100593 + AL022067.1 sense_intronic 4 6 9 0 2 0 2 1 0 ENSG00000269921 chr4 56387625 56388153 + AC068620.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000269924 chr8 47527397 47528148 + AC024451.4 sense_intronic 0 2 2 9 6 0 1 5 3 ENSG00000269925 chr1 7776383 7776775 + Z98884.2 sense_intronic 24 31 22 47 62 59 60 27 38 ENSG00000269926 chr10 72274915 72275980 - DDIT4-AS1 antisense 181 228 582 402 595 697 572 532 607 ENSG00000269927 chr14 71141125 71143253 - AC004817.3 lincRNA 0 1 1 0 0 2 0 2 0 ENSG00000269929 chr9 94176458 94177892 + AL158152.1 lincRNA 55 77 45 378 437 474 389 276 319 ENSG00000269930 chr15 30616958 30617749 + AC091057.3 lincRNA 1 0 0 2 0 0 0 0 0 ENSG00000269931 chr20 12934877 12935783 - AL078623.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269933 chr1 71005854 71006502 - AL031429.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269934 chr1 228274584 228276066 - AL353593.2 antisense 2 0 6 9 0 8 3 0 0 ENSG00000269935 chr16 87600526 87602190 - AC092720.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269937 chr16 2561471 2565096 - AC093525.7 antisense 46 48 39 15 77 47 18 38 19 ENSG00000269938 chr12 123968023 123968579 - AC068790.2 sense_intronic 2 0 1 3 2 10 0 1 4 ENSG00000269939 chr11 83185521 83187036 - PCF11-AS1 lincRNA 39 36 57 119 182 160 134 84 134 ENSG00000269940 chr14 103694560 103695170 + AL049840.3 sense_intronic 66 101 167 51 109 73 67 91 77 ENSG00000269944 chr11 118415977 118416521 + AP001267.4 sense_intronic 0 0 1 1 0 0 0 0 0 ENSG00000269945 chr14 71219100 71222724 + AC004817.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269946 chr9 94166289 94200627 + AL158152.2 lincRNA 10 4 3 18 15 19 12 8 7 ENSG00000269947 chr17 8277763 8278436 + AC135178.5 lincRNA 0 2 1 0 0 0 0 0 0 ENSG00000269949 chr4 56960927 56961373 - AC069307.1 lincRNA 1 0 0 1 0 0 1 0 0 ENSG00000269950 chr21 16574718 16582637 - AP000962.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269951 chr15 77067654 77068325 - AC090181.2 sense_intronic 0 2 2 3 4 0 5 4 2 ENSG00000269952 chr10 35210416 35210750 + AL117336.2 sense_intronic 10 36 26 144 148 150 162 90 101 ENSG00000269954 chr8 11552488 11564694 - AC022239.1 antisense 5 6 2 14 5 0 19 11 8 ENSG00000269955 chr7 139341360 139422599 + C7orf55-LUC7L2 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring C7orf55 (chromosome 7 open reading frame 55) and LUC7L2 (LUC7-like 2) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2012]. 100996928 0 0 0 0 0 0 0 0 0 ENSG00000269956 chr1 46538696 46570255 + MKNK1-AS1 antisense 100507423 232 182 501 213 218 301 273 171 288 ENSG00000269957 chr9 24545938 24592104 + AL353811.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269958 chr14 103696353 103697163 + AL049840.4 sense_intronic 83 136 141 67 133 103 100 111 143 ENSG00000269959 chr19 51685363 51693456 - SPACA6P-AS lincRNA 102238594 GO:0035195, gene silencing by miRNA, 10 5 4 3 20 3 14 9 2 ENSG00000269961 chr5 65924629 65925135 - AC010359.1 lincRNA 8 6 7 11 6 1 3 4 5 ENSG00000269964 chr6 77650274 77927028 + MEI4 protein_coding 101928601 GO:0000800, GO:0000800, lateral element, lateral element, GO:0005515, protein binding, GO:0048477, GO:0048477, GO:0042138, GO:0042138, GO:0007283, GO:0007283, GO:0007129, GO:0007129, GO:0006310, oogenesis, oogenesis, meiotic DNA double-strand break formation, meiotic DNA double-strand break formation, spermatogenesis, spermatogenesis, homologous chromosome pairing at meiosis, homologous chromosome pairing at meiosis, DNA recombination, 0 0 0 0 0 0 0 0 0 ENSG00000269966 chr6 71295173 71417436 - AL136164.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269967 chr1 31851913 31921841 - AL136115.2 lincRNA 27 11 18 19 30 21 16 14 11 ENSG00000269968 chr12 6537794 6538370 - AC006064.4 antisense 1115 1377 1710 969 1223 1345 849 1090 1085 ENSG00000269970 chr9 122372605 122372825 + AL162424.1 sense_intronic 1 4 1 1 5 2 0 0 0 ENSG00000269971 chr1 27773858 27774041 + AL020997.2 sense_intronic 3 1 2 2 9 4 2 2 6 ENSG00000269972 chr22 30977516 30977858 - AC004542.1 lincRNA 224 312 291 509 676 724 444 368 459 ENSG00000269973 chr2 9936360 9939590 + AC010969.2 lincRNA 4 1 1 13 1 4 11 1 3 ENSG00000269974 chr15 30648797 30649529 + AC091057.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269976 chr2 20586248 20586686 - AC012065.3 lincRNA 1 1 0 1 5 2 8 4 1 ENSG00000269978 chr1 7700704 7700970 - AL359881.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269980 chr12 123262060 123262402 + AC068768.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000269981 chr1 137682 137965 - AL627309.7 processed_pseudogene 543 1115 1009 1029 1894 1900 1064 1148 1373 ENSG00000269982 chr3 9958717 9962539 + AC018809.2 antisense 67 51 59 18 37 34 29 29 49 ENSG00000269983 chr5 70449636 70450353 + AC146944.4 lincRNA 0 1 4 0 4 9 0 0 10 ENSG00000269984 chr3 169777192 169780334 - AC078795.1 antisense 326 270 300 153 143 198 212 135 110 ENSG00000269985 chr6 5451683 5458075 - AL021328.1 antisense 101927972 0 0 0 0 0 0 0 0 0 ENSG00000269986 chr16 63066526 63066990 - AC040174.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269987 chr22 30976515 30978848 - AC004542.2 lincRNA 344 378 457 684 773 996 562 459 581 ENSG00000269989 chr18 63485601 63486018 + AC036176.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000269993 chrX 151182386 151182855 + KC877982.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000269994 chr9 87008455 87042126 - AL513318.2 lincRNA 440173 0 0 0 1 0 0 0 0 0 ENSG00000269997 chr12 123966077 123966629 - AC068790.3 sense_intronic 1 1 1 6 0 2 2 0 6 ENSG00000270000 chr14 74471930 74472360 - AC005479.2 lincRNA 7 4 6 31 34 61 28 28 31 ENSG00000270001 chr20 23631826 23632316 - AL121894.2 lincRNA 0 0 0 0 1 2 0 0 0 ENSG00000270002 chr10 85644073 85648066 + AC022028.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270006 chr16 87317509 87318043 + AC010531.6 antisense 101928659 0 0 0 0 0 0 0 0 0 ENSG00000270008 chr13 32425358 32432954 - AL137247.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000270011 chr19 9324174 9382617 + ZNF559-ZNF177 protein_coding This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 559 (ZNF559) and zinc finger protein 177 (ZNF177) genes on chromosome 19. Alternative splicing results in multiple transcript variants, which encode the ZNF177 protein due to either leaky scanning by ribosomes, or absence of the ZNF559 start codon. [provided by RefSeq, Jan 2011]. 100529215 GO:0072562, GO:0000785, blood microparticle, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0001227, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, GO:0000122, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 1 0 0 0 0 0 0 2 0 ENSG00000270012 chrX 49273054 49275768 + AC232271.1 lincRNA 28 35 21 10 18 46 32 15 28 ENSG00000270015 chr15 30926514 30928407 + AC087481.3 sense_intronic 0 1 1 0 0 0 3 1 2 ENSG00000270016 chr15 30607695 30608193 - AC026150.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270017 chr15 94855586 94857011 - AC107976.1 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000270019 chr2 113888203 113889750 - AC110769.2 lincRNA 6 6 11 32 19 26 36 10 35 ENSG00000270020 chr16 86520383 86523897 - AC009108.3 lincRNA 2 4 1 5 10 9 6 2 4 ENSG00000270021 chr5 135399280 135401296 + AC026691.1 antisense 2 2 5 1 0 0 0 2 12 ENSG00000270022 chr22 42615244 42615907 + Z93241.1 lincRNA 1 0 0 4 14 12 3 0 1 ENSG00000270025 chr10 48050282 48060016 - BMS1P7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000270030 chr11 325703 326294 - AC136475.7 lincRNA 20 16 8 21 13 7 2 27 11 ENSG00000270031 chr1 27819983 27820341 + AL020997.3 sense_intronic 3 4 2 7 6 0 2 1 4 ENSG00000270035 chr1 7698303 7698872 - AL359881.2 lincRNA 0 0 0 3 0 1 0 0 0 ENSG00000270036 chr15 76343642 76344365 + AC027243.2 lincRNA 0 0 1 2 1 2 2 3 2 ENSG00000270038 chr14 95644508 95645232 + AL133467.4 lincRNA 0 0 0 0 1 0 1 0 0 ENSG00000270039 chr12 57803838 57804415 + AC025165.5 lincRNA 12 7 8 13 25 23 14 19 35 ENSG00000270040 chr1 39206512 39206957 + AL356055.1 sense_intronic 0 0 0 0 0 0 0 1 0 ENSG00000270048 chr12 123962555 123962817 - AC068790.4 sense_intronic 0 0 0 0 1 0 4 0 0 ENSG00000270049 chr16 67481314 67505063 + AC009061.2 antisense 101927837 29 29 58 12 26 32 23 20 22 ENSG00000270050 chrX 102599657 102659712 - AL035427.1 antisense 2 4 3 25 11 13 28 12 6 ENSG00000270052 chrX 151497726 151498354 + BX546450.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270055 chr15 30487963 30490313 + AC127502.2 sense_intronic 12 39 60 8 40 65 21 17 53 ENSG00000270059 chr3 65359268 65359717 - AC121493.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000270060 chr11 47168281 47169563 - AC090589.3 sense_intronic 21 22 19 7 12 8 5 4 5 ENSG00000270061 chr12 123969990 123970344 - AC068790.5 sense_intronic 0 0 0 3 1 3 0 3 11 ENSG00000270062 chr14 50723777 50724272 - AL606834.2 sense_intronic 34 44 56 21 50 53 21 30 19 ENSG00000270066 chr1 109100193 109100619 + AL356488.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270068 chr12 6723233 6723687 + AC125494.3 antisense 2 0 0 1 3 0 1 2 2 ENSG00000270069 chrX 45745211 45770274 - MIR222HG lincRNA 29 11 49 93 71 269 95 55 220 ENSG00000270071 chr21 16291791 16308133 - AP001172.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270072 chr11 47513605 47514889 - AC090559.2 sense_intronic 0 0 0 1 1 4 0 0 1 ENSG00000270073 chrY 9507596 9510175 + TSPY6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270074 chr8 12412827 12414373 + AC087203.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270075 chr10 104312141 104313881 + AL162742.2 antisense 505 441 719 155 289 320 261 291 418 ENSG00000270076 chr8 11202965 11203671 + AF131215.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270077 chr8 97144170 97144723 + AP003117.1 sense_intronic 6 10 9 1 12 9 2 9 9 ENSG00000270082 chr16 87326987 87327584 + AC010531.7 antisense 0 0 0 0 0 0 1 0 0 ENSG00000270083 chr22 42089630 42090028 - AL021878.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000270084 chr1 173863248 173863941 + GAS5-AS1 antisense 1 2 1 11 7 14 6 0 19 ENSG00000270087 chr10 75279726 75401246 - ZNF503 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270090 chr4 3544555 3548796 + AL590235.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270091 chr17 19896590 19897287 - AC015726.1 lincRNA 2 11 8 8 10 1 2 11 8 ENSG00000270094 chr1 228394290 228396967 + AL670729.2 antisense 105 141 150 114 170 153 127 134 106 ENSG00000270095 chr12 123971457 123971714 - AC068790.6 sense_intronic 0 0 0 0 1 0 0 0 0 ENSG00000270096 chr3 169794962 169796213 + AC078795.2 antisense 15 9 5 6 1 9 11 4 7 ENSG00000270098 chr4 71434405 71437924 - LDHAL6EP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270099 chr10 95860548 95924844 + AL365273.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000270100 chr2 20678254 20678932 - AC012065.4 lincRNA 0 0 2 1 0 0 1 0 0 ENSG00000270103 chr1 28648600 28648730 + AL360012.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270104 chr1 228384114 228385016 - AL670729.3 lincRNA 0 0 0 0 0 0 6 0 0 ENSG00000270105 chr11 322186 322727 - AC136475.8 lincRNA 8 2 2 3 5 4 11 0 5 ENSG00000270106 chr1 231528653 231819244 + TSNAX-DISC1 protein_coding 0 0 1 5 2 4 0 1 3 ENSG00000270108 chr14 103687576 103688127 + AL049840.5 sense_intronic 21 51 70 15 39 21 19 26 8 ENSG00000270110 chr1 228295911 228302998 - AL353593.3 antisense 1 0 0 0 0 0 0 0 0 ENSG00000270111 chr10 10418739 10462349 - AL583859.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270112 chr18 46756487 46764408 + AC090241.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000270114 chr7 154026287 154038604 - AC006019.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270115 chr1 33261212 33261680 + AL513327.3 lincRNA 2 0 0 0 0 2 3 1 0 ENSG00000270116 chr21 37100814 37101343 + AP001429.1 sense_intronic 1 0 0 0 0 3 2 2 0 ENSG00000270117 chr11 65498010 65498405 - AP000769.2 lincRNA 1 5 2 14 8 6 8 10 19 ENSG00000270118 chr16 28454141 28454511 - AC138894.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270120 chr16 50712844 50713589 + AC007728.3 sense_intronic 26 82 177 4 74 63 10 75 87 ENSG00000270123 chr5 136080470 136080597 - VTRNA2-1 vaultRNA 0 0 0 0 0 0 0 0 0 ENSG00000270124 chr16 85580009 85583571 - AC092127.2 lincRNA 0 1 2 0 1 0 0 5 3 ENSG00000270127 chr15 100547765 100550153 - AC027020.2 lincRNA 23 9 21 22 45 26 35 18 14 ENSG00000270130 chr12 123960717 123961244 - AC068790.7 sense_intronic 0 1 1 4 1 3 2 1 0 ENSG00000270131 chr8 96140572 96140944 - AP003465.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270133 chr5 94611906 94618122 - AC025766.1 sense_intronic 3 12 21 0 1 3 0 1 0 ENSG00000270135 chr3 169793495 169793966 + AC078795.3 antisense 4 3 11 3 3 4 5 4 6 ENSG00000270136 chr1 19597067 19656927 + MINOS1-NBL1 protein_coding 0 0 0 0 1 0 0 0 0 ENSG00000270137 chr8 132826179 132826903 + AF230666.2 sense_intronic 12 14 13 14 39 29 15 16 25 ENSG00000270139 chr21 16417139 16419080 - AP001172.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270140 chr14 73905267 73905636 + AC005520.3 sense_intronic 0 0 1 2 9 0 1 1 2 ENSG00000270141 chr3 169764520 169765060 - TERC lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270147 chr4 56396312 56396871 + AC068620.2 lincRNA 1 0 0 1 0 0 0 0 0 ENSG00000270149 chr1 160997957 161038962 - AL591806.3 protein_coding 5 3 2 2 7 5 4 9 9 ENSG00000270154 chr8 12476462 12477122 + AC130352.1 lincRNA 5 1 4 5 8 2 1 2 3 ENSG00000270157 chr7 141662922 141663846 - AC004918.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000270159 chr16 85792415 85792933 + AC018695.3 antisense 101928557 0 0 0 0 0 1 7 3 0 ENSG00000270164 chr19 41535183 41536904 + LINC01480 lincRNA 101927931 2 6 4 11 22 25 7 10 4 ENSG00000270165 chr16 67738588 67739922 - AC010530.1 sense_intronic 4 2 0 1 1 2 3 1 8 ENSG00000270166 chr9 84078584 84078857 + AL390838.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270168 chr16 2988256 3002016 + AC004233.2 protein_coding 10 19 10 4 4 0 3 3 0 ENSG00000270170 chr3 196942623 196943540 + NCBP2-AS2 protein_coding 152217 GO:0005515, protein binding, 22 22 32 24 15 43 21 12 25 ENSG00000270171 chr1 7693124 7694844 - AL359881.3 lincRNA 0 0 0 0 0 2 0 0 0 ENSG00000270174 chr6 5664985 5695272 - AL022097.1 antisense 101927950 0 0 0 1 0 0 0 0 1 ENSG00000270175 chr12 53500162 53500936 - AC023509.4 antisense 0 1 1 4 13 4 8 4 6 ENSG00000270177 chr5 134226410 134227827 + AC104109.2 lincRNA 7 0 3 6 5 8 0 1 0 ENSG00000270178 chr3 179804063 179804366 + AC007687.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270179 chr11 113368478 113369117 + AP002840.2 sense_intronic 4 4 1 3 0 8 0 3 3 ENSG00000270181 chr13 102799110 102875994 + BIVM-ERCC5 protein_coding This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Feb 2011]. 100533467 0 0 0 0 0 0 0 0 0 ENSG00000270182 chr7 27158344 27158976 + AC004080.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000270184 chr16 85784382 85787617 + AC018695.4 antisense 2 2 3 4 7 4 3 9 11 ENSG00000270185 chr15 21017800 21017816 - IGHD1OR15-1B IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000270187 chr2 97386082 97386368 + IGKV1OR2-11 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270188 chr1 237943724 237945275 - MTRNR2L11 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000270190 chr2 111266868 111267473 - AC068491.3 lincRNA 1 5 3 3 6 1 8 2 4 ENSG00000270191 chr19 22298977 22299868 - BNIP3P31 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270192 chr10 57982285 57982993 + MRPS35P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270193 chr2 95616492 95617233 + AC009237.12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270194 chr3 37241789 37244177 - AC097359.2 antisense 152048 25 23 21 15 14 33 9 18 16 ENSG00000270195 chr4 1712821 1713622 + AC016773.1 lincRNA 16 17 27 8 6 9 20 7 1 ENSG00000270196 chr7 29551521 29552151 + AC007255.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270200 chr7 148649547 148650240 + AC005229.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270202 chr11 111107060 111107750 - AP003973.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270204 chr11 114517864 114518371 + AC020549.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270207 chr3 7606890 7607897 - AC068313.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270209 chr1 58552913 58553333 - AL035411.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270210 chr2 28425945 28426719 + AC104695.2 lincRNA 8 16 7 43 43 29 25 46 30 ENSG00000270212 chr19 33283978 33285739 - AC008738.6 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000270218 chr15 65026088 65026676 + AC013553.2 processed_pseudogene 0 5 1 0 0 0 0 0 0 ENSG00000270222 chr16 59655602 59656336 + DUXAP11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270225 chr5 100052859 100053539 - MTCO2P22 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000270226 chr22 17012404 17012932 + AC006548.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270228 chr4 67718996 67724262 - AC079880.1 processed_pseudogene 4 3 7 15 2 6 8 8 6 ENSG00000270230 chr5 100046450 100046970 + MTND6P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270231 chr1 120436353 120467739 + NBPF8 unprocessed_pseudogene This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]. 728841 GO:0005737, cytoplasm, 110 114 167 99 76 150 95 57 87 ENSG00000270232 chr5 100045928 100046374 - MTCYBP22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270234 chr10 8724010 8724288 + AL355333.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270236 chr9 69107926 69108217 - AL162730.1 processed_pseudogene 0 0 3 0 0 0 0 0 0 ENSG00000270240 chr17 35868967 35885863 + AC015849.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270241 chr1 34276859 34277292 - AC115286.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270242 chrY 11395699 11397076 + ACTR3BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270243 chr5 172785262 172785424 - AC022217.4 processed_pseudogene 2 2 1 2 2 12 0 1 2 ENSG00000270244 chr4 76886029 76886370 - AC104687.2 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000270248 chr19 52110318 52110726 - AC011468.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270249 chr7 102541501 102592444 - AC093668.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000270251 chrX 120986388 120986639 + AL670379.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270252 chr2 97348899 97349179 + IGKV3OR2-5 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270255 chr8 19001627 19001950 + AC009884.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270257 chr4 67638177 67638359 + AC096720.1 processed_pseudogene 7 3 11 4 0 1 1 0 2 ENSG00000270258 chr10 45055656 45056268 + DUXAP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270259 chr9 137286112 137287236 + BX255925.2 processed_pseudogene 0 2 10 0 6 14 0 1 0 ENSG00000270264 chr17 59885015 59885552 + NDUFB8P2 processed_pseudogene 5 1 0 8 4 4 0 1 0 ENSG00000270265 chr4 151333775 151353224 - AC104819.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270268 chrX 79369364 79370165 - AL009028.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270269 chr11 63632233 63632720 + IMMP1LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270270 chr19 19870723 19871299 - BNIP3P10 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000270273 chr12 39539581 39539851 - AC121334.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270275 chr8 54479597 54479963 - TRMT112P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270276 chr1 149854045 149861210 - HIST2H4B protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-dependent histone that is a member of the histone H4 family. Some transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, May 2020]. 554313 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 65 11 18 11 32 11 7 36 18 ENSG00000270277 chr2 178548884 178550681 + AC009948.3 antisense 111 73 114 101 98 93 113 55 108 ENSG00000270279 chr20 58754351 58756838 + AL132655.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270280 chrX 43000174 43000396 + AL451086.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270281 chr19 34779412 34780021 - AC020910.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270282 chr1 8512653 8513021 + AL096855.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270285 chr3 48039267 48039490 + AC124916.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270287 chr1 226411615 226412135 - AL359704.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270289 chr2 180473137 180473419 - AC012669.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270292 chr4 67725183 67726395 - AC079880.2 processed_pseudogene 2 0 1 0 0 0 0 0 0 ENSG00000270293 chr19 57150513 57150978 + AC025588.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270294 chr10 109680442 109681041 + XIAPP1 processed_pseudogene 1 1 0 0 1 0 1 0 0 ENSG00000270296 chr12 12771351 12771705 - STX8P1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000270299 chr20 646626 675800 - AL121758.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000270300 chr10 119793589 119816642 - PHACTR2P1 transcribed_processed_pseudogene 1 1 0 1 0 0 0 0 0 ENSG00000270301 chr15 28857882 28858398 - AC174071.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270302 chr4 152308283 152309983 - AC080078.1 lincRNA 2 1 1 0 2 0 3 0 0 ENSG00000270304 chr15 37253879 37254952 + AC087283.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270306 chr6 51385282 51385849 - AL158050.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270307 chr5 100051920 100052597 - MTATP6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270308 chrX 99656997 99657381 + AL137843.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270313 chr16 85278820 85279035 - COX6CP16 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270314 chr7 7735743 7736851 - AC007161.2 processed_pseudogene 2 2 1 4 4 0 2 2 0 ENSG00000270316 chr10 102854272 102901899 + BORCS7-ASMT protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000270317 chr19 22501699 22501948 - AC004004.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270318 chr16 33858896 33859352 - IGHV3OR16-11 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270321 chr3 177954066 177959798 - AC007953.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270322 chr15 90281848 90282031 - AC091167.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270323 chr11 73640479 73641037 + AP000860.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270324 chr17 62978494 62978841 - AC005972.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270325 chr19 19856975 19857527 + BNIP3P9 processed_pseudogene 0 0 5 4 0 0 0 0 0 ENSG00000270326 chr6 28319660 28319852 - AL021997.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270328 chr8 56776283 56776874 + AC009597.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270330 chr1 7942372 7942726 + AL009183.1 processed_pseudogene 8 8 15 0 18 5 6 6 8 ENSG00000270332 chr9 104080024 104093073 - SMC2-AS1 lincRNA 101928550 0 0 0 0 0 0 0 0 0 ENSG00000270333 chr10 109661814 109662050 + AL390123.1 processed_pseudogene 0 2 1 0 1 0 0 1 0 ENSG00000270335 chr2 62348948 62350739 - AC093159.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270336 chr4 167741879 167742287 - AC105148.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270339 chr1 146344131 146344790 - AC243756.1 protein_coding 105371242 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0016018, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 0 0 0 2 1 0 1 0 2 ENSG00000270342 chr1 106544342 106544744 - AL499605.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270343 chr14 81259565 81260239 - UNGP3 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000270344 chr12 89525654 89548005 + POC1B-AS1 antisense 50 38 46 16 44 57 39 42 53 ENSG00000270347 chr19 53657400 53658462 - AC011453.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270350 chr5 100050359 100050650 - MTND4LP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270352 chr10 63658074 63658521 + AC022387.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270354 chr2 64208498 64208716 - AC012368.3 processed_pseudogene 5 8 15 0 8 4 4 3 0 ENSG00000270356 chr15 22194885 22195317 - IGHV1OR15-4 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270359 chr14 48319068 48319394 - AL358335.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270361 chr1 154937370 154938059 + AL451085.1 lincRNA 2 1 0 6 10 0 8 3 3 ENSG00000270362 chr6 79233718 79236797 + HMGN3-AS1 antisense 100288198 7 6 12 14 10 17 16 7 26 ENSG00000270367 chr3 39285985 39287920 + AC092053.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270369 chr10 47484457 47484754 - AL591684.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270371 chr14 105785505 105785831 - AL122127.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270372 chr9 10948372 10948481 - AL162413.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270377 chr3 32243847 32244018 - AC097639.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270378 chr15 51351100 51351192 - AC020891.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270379 chr17 35854946 35868891 - HEATR9 protein_coding 256957 GO:0005515, protein binding, GO:0002244, hematopoietic progenitor cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000270380 chr1 110456505 110457354 - AL358215.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270381 chr13 45263690 45263915 + AL138963.2 processed_pseudogene 0 0 0 0 0 0 1 1 0 ENSG00000270382 chr6 52657373 52657651 + AL109918.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270384 chr1 145431527 145431693 - RF00003 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000270385 chr16 87892955 87893735 + AC133539.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270387 chr4 147916529 147917386 - AC115621.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270388 chr5 100051133 100051916 - MTCO3P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270390 chr2 142947300 142948086 - AC013444.2 processed_pseudogene 1 0 0 0 0 2 0 1 0 ENSG00000270392 chr1 120432204 120434052 - PFN1P2 transcribed_processed_pseudogene 767846 1 0 7 2 2 0 2 3 0 ENSG00000270393 chr22 19018043 19018916 - AC000095.1 processed_pseudogene 4 22 9 60 51 32 44 36 12 ENSG00000270394 chr4 116298876 116300320 + MTRNR2L13 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000270395 chr12 31254361 31254445 - MREGP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270397 chrX 120952344 120952595 + AL670379.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270400 chr13 83145540 83145903 + AL512782.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270401 chr16 33965655 33966091 - AC140658.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270402 chr19 19708965 19710465 + AC011458.1 processed_pseudogene 0 0 1 1 1 0 2 3 0 ENSG00000270403 chr11 117668483 117668858 + AP001554.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270405 chr7 152366763 152367015 + AC104692.2 processed_pseudogene 0 0 1 0 8 0 2 0 0 ENSG00000270409 chr3 15732252 15733470 + AC090950.1 transcribed_unprocessed_pseudogene 0 1 0 2 0 0 1 0 0 ENSG00000270411 chr20 58097267 58097591 + AL354984.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270412 chr9 98943337 98943775 - AL136084.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270413 chrX 114900359 114900574 - AL355812.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270415 chr13 81114866 81115295 - DPPA3P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270416 chr8 85802574 85806435 - REXO1L4P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270419 chr6 163413065 163413960 - CAHM lincRNA 100526820 35 44 39 147 173 261 106 73 142 ENSG00000270421 chr10 63358745 63359104 + AC022022.2 processed_pseudogene 1 0 0 1 0 0 0 0 0 ENSG00000270422 chr2 31651381 31651862 + AL133247.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270423 chr11 109985243 109985660 - AP001981.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270424 chr16 28749959 28750595 - AC145285.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270425 chr7 108720608 108721601 - AC002487.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270426 chr4 184471924 184472609 - AC099343.2 sense_intronic 27 21 21 7 4 18 1 24 23 ENSG00000270427 chr10 5776071 5776858 + NRBF2P5 processed_pseudogene 2 3 6 5 7 0 2 5 11 ENSG00000270429 chr12 45880950 45882266 - KNOP1P2 processed_pseudogene 2 2 1 1 3 13 2 0 0 ENSG00000270430 chr5 29105568 29106861 - AC024589.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270431 chrX 115659713 115660022 + AC005000.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270432 chr9 90751240 90752230 - OR7E108P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270433 chr14 23293852 23295798 + H3F3AP2 transcribed_unprocessed_pseudogene 0 0 2 32 39 25 36 20 23 ENSG00000270434 chr10 45812648 45812944 - AC012044.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270435 chr11 6297189 6298606 - AC068733.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270437 chr2 63083008 63087322 + AC009501.2 processed_pseudogene 0 0 1 0 0 0 0 0 2 ENSG00000270440 chr16 5838131 5838661 - AC012175.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270441 chr3 49140086 49160851 - AC135506.1 unprocessed_pseudogene 8 7 4 12 4 11 10 11 22 ENSG00000270442 chr5 155491336 155493598 + AC008725.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000270443 chr1 182433893 182434461 - AL139344.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270444 chr13 39856710 39857094 - AZU1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270445 chr12 123441517 123441852 - AC145423.1 processed_pseudogene 0 3 4 0 0 0 0 0 0 ENSG00000270446 chrX 87806433 87806769 - AL136363.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270447 chr2 59514890 59515124 + AC007179.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270449 chr11 104682383 104682581 - AP001485.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270450 chr2 97372532 97372835 + IGKV2OR2-7 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270451 chr15 21011451 21011469 - IGHD4OR15-4B IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000270453 chr7 92442077 92442489 + AC007566.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270455 chrY 11335627 11337693 + PABPC1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270456 chrX 120981529 120981779 + AL670379.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270457 chr1 59289303 59289640 - AC093424.1 lincRNA 1 0 2 4 7 10 3 2 0 ENSG00000270458 chr12 55662337 55662501 - AC009779.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270460 chr2 173811076 173811392 + AC106900.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270462 chr2 75697583 75697996 + AC005034.2 antisense 0 1 0 0 0 0 0 0 0 ENSG00000270467 chr16 33802764 33803217 + IGHV3OR16-12 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000270469 chr18 14053951 14054761 + AC006557.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270470 chr2 78437850 78438921 + AC064872.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270472 chr16 32066065 32066358 + IGHV3OR16-9 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000270474 chr14 106356145 106356591 - IGHV3-29 IG_V_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000270475 chr19 22708834 22709314 - AC024563.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270477 chr6 3693923 3694075 - AL033523.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270479 chr19 23123188 23124088 - BNIP3P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270480 chr4 82691737 82692468 + AC073413.1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000270482 chr12 118375350 118376275 - AC026367.1 lincRNA 1 3 0 2 1 4 0 2 0 ENSG00000270484 chr6 94442030 94443809 - AL078595.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270487 chr6 156780327 156780455 - AL355297.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270488 chr2 10874291 10874567 - AC079587.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270490 chr15 66808404 66810560 + AC110048.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270491 chr11 34742906 34743199 + AL359999.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270492 chr3 129334586 129335074 + AC137695.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000270493 chrX 120937762 120938015 + AL670379.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270494 chr10 68717311 68717795 - AL513534.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270495 chr5 28808538 28809255 + AC008825.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270496 chr13 18491904 18492419 + BNIP3P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270497 chrX 53065053 53065548 - BX322635.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270499 chrX 46560928 46562749 - MKI67P1 processed_pseudogene 1 2 2 0 1 2 0 1 0 ENSG00000270500 chr15 36571985 36572212 + COX6CP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270503 chr14 39215065 39216335 + YTHDF2P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000270504 chr6 3751111 3753871 + AL391422.4 antisense 3 1 5 3 3 9 1 3 4 ENSG00000270505 chr15 22160431 22160868 - IGHV1OR15-1 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000270506 chr12 93035261 93035744 + AC021646.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270507 chr1 88313153 88313302 + AL049861.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270509 chr6 67933485 67934682 + AL713998.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270510 chr11 87323709 87324359 - AP000811.1 processed_pseudogene 0 0 1 1 0 0 5 0 0 ENSG00000270512 chr7 140282465 140282920 + AC005377.1 processed_pseudogene 0 0 0 0 0 0 5 1 0 ENSG00000270513 chr5 42729138 42729519 + AC113368.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270516 chr7 119178177 119179149 - AC079791.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270518 chr19 22770937 22771191 + AC008626.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270521 chr6 66710242 66710827 - AL450336.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270522 chr13 43787591 43787852 + AL162713.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270523 chr15 25130978 25131337 + AC124303.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000270524 chrX 113882590 113883667 + QTRT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270526 chr11 65514403 65514923 - SNRPGP19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270528 chr2 28015777 28016482 - AC021171.1 processed_pseudogene 3 0 0 0 4 0 4 0 0 ENSG00000270531 chr3 11529488 11529755 - AC022001.1 processed_pseudogene 1 0 0 0 6 2 1 3 0 ENSG00000270532 chr2 85341281 85341838 - PEBP1P2 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000270533 chr21 9975017 10119309 - CR382285.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270535 chrY 25662900 25663226 + ELOCP34 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270538 chr3 49252129 49252264 - AC121247.2 processed_pseudogene 3 2 0 1 3 3 1 6 5 ENSG00000270540 chr2 236367560 236369102 + AC093915.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270541 chr10 55746551 55746908 + AC069545.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270542 chr9 33449755 33449941 + AL356218.2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000270544 chr19 34902202 34904195 - AC008555.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270547 chr9 13406380 13433053 - LINC01235 lincRNA 401492 0 0 0 0 0 0 0 0 0 ENSG00000270549 chr1 62530636 62530873 + AL451044.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270550 chr14 106335082 106335613 - IGHV3-30 IG_V_gene 0 0 1 0 5 0 0 3 0 ENSG00000270552 chr10 42747544 42748687 - DUXAP3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000270553 chr17 60513190 60513550 + AC011921.3 processed_pseudogene 1 2 1 0 0 0 0 0 0 ENSG00000270554 chr3 182843521 182844619 - AC069431.2 processed_pseudogene 24 24 45 15 53 101 12 29 29 ENSG00000270555 chr7 72768798 72769191 + AC211469.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270557 chr2 157877683 157878565 + AC013731.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270558 chr5 37286449 37286977 - AC025449.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000270560 chr5 156924119 156924710 + APOOP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270562 chr3 71584943 71587409 + AC097634.1 lincRNA 9 8 9 14 57 24 30 45 48 ENSG00000270569 chr2 57429548 57430693 - AC068276.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270570 chrY 11107719 11107887 - AC140113.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270571 chr2 75154366 75189949 + AC007681.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270574 chr2 178578790 178580906 + AC010680.2 antisense 74 66 95 98 89 101 106 87 138 ENSG00000270575 chr1 178194342 178194709 - AL160281.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270576 chr14 73840520 73840609 - AC005520.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270577 chr7 40115685 40115943 + AC006023.1 processed_pseudogene 0 0 0 0 1 0 2 0 0 ENSG00000270578 chr11 95145437 95146004 + AP000787.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270580 chr16 15104723 15131601 - PKD1P6-NPIPP1 processed_transcript This locus represents naturally-occurring readthrough transcription between two unprocessed pseudogenes, PKD1P6 (polycystic kidney disease 1 (autosomal dominant) pseudogene 6) and NPIPP1 (nuclear pore complex interacting protein pseudogene 1). The individual pseudogene loci are not curated as transcribed regions. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Jan 2016]. 105369154 0 0 0 0 0 0 0 0 0 ENSG00000270583 chrX 95720243 95721144 + AL365400.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270584 chr7 156263547 156263802 + AC093813.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270585 chr1 220207618 220208282 + AL445435.1 processed_pseudogene 6 1 12 0 0 0 0 3 0 ENSG00000270587 chr17 63610772 63611184 - AC046185.2 processed_pseudogene 1 0 0 1 0 0 4 0 0 ENSG00000270588 chr11 39873782 39874388 + AC021749.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270589 chr10 110910596 110912244 + AL158163.1 antisense 67 131 108 57 51 70 73 35 37 ENSG00000270591 chr14 103762803 103763277 + AL049840.6 transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 1 ENSG00000270593 chr7 16849957 16850725 - AC073333.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270598 chr1 226127178 226127346 + AL512343.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270601 chr1 13254212 13263314 + PRAMEF5 protein_coding 343068 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000270604 chr6 30234039 30326134 - HCG17 lincRNA 414778 0 0 0 0 0 0 0 0 0 ENSG00000270605 chr1 28239509 28241453 - AL353622.1 antisense 21 25 21 14 21 18 33 30 14 ENSG00000270606 chr17 8560471 8560962 + PPIAP52 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270607 chr11 19710934 19712619 - AC009549.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270610 chr14 70234495 70235095 + AL160191.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270611 chr7 9850924 9851386 + AC006363.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270612 chr5 160326693 160326969 + AC112191.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270614 chr19 9348106 9348703 - AC011451.2 processed_pseudogene 0 1 1 5 0 0 0 1 0 ENSG00000270615 chr1 69606855 69608301 - SGO1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270617 chr7 43866558 43906589 - URGCP-MRPS24 protein_coding This locus represents naturally occurring read-through transcription between the neighboring URGCP (upregulator of cell proliferation) and MRPS24 (mitochondrial ribosomal protein S24) genes on chromosome 7. The read-through transcript is predicted to encode a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]. 100534592 0 0 0 0 0 0 0 0 0 ENSG00000270618 chr14 23767662 23768998 + AL160237.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270619 chrX 118278159 118283367 + AL391358.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270620 chr1 15917698 15917908 - AL034555.1 unprocessed_pseudogene 1 0 2 1 0 0 0 0 2 ENSG00000270623 chr10 100143065 100143995 - SPCS2P2 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000270624 chr19 34866352 34866919 + AC008555.4 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000270625 chrX 119222564 119223245 - AC004835.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270627 chr9 78589158 78589539 + AL592221.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270629 chr1 148531385 148679751 - NBPF14 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]. 25832 GO:0005737, cytoplasm, 991 1351 1372 470 652 685 578 274 492 ENSG00000270631 chr1 115577229 115577786 - AL592436.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270632 chr13 100198187 100198469 - AL356575.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270634 chr7 147704294 147704575 - AC005518.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270638 chr6 145735570 145737218 + AL023806.1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000270639 chr9 4768617 4769895 - ECM1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270640 chr2 28396815 28397110 + AC104695.3 sense_intronic 7 19 17 1449 2427 1981 1551 1753 1592 ENSG00000270641 chrX 73792205 73829231 + TSIX lincRNA In mammals, dosage compensation of genes on the X chromosome occurs by X inactivation, which is regulated in cis by the X-inactivation center (XIC) and expression of the XIST non-coding RNA. This gene expresses a non-coding antisense transcript across the 3' end of the XIST locus, and is coexpressed with XIST only from the inactive X chromosome. The mouse ortholog of this locus is required for imprinted X inactivation in extraembryonic tissues and silences Xist through modification of the chromatin structure in the Xist promoter region. In contrast, imprinted X inactivation does not occur in human extraembryonic tissues and transcripts from this locus do not repress XIST expression or affect random X chromosome inactivation in embryonic cells. This transcript is thought to be unspliced and extend over more than 30 kb, but its exact nature has not been determined. [provided by RefSeq, Jul 2008]. 9383 2 0 0 0 0 0 0 0 0 ENSG00000270646 chrX 120976668 120976919 + AL670379.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270647 chr17 35713791 35864615 + TAF15 protein_coding This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. 8148 GO:0005737, GO:0005730, GO:0005654, GO:0005654, GO:0005634, GO:0005634, cytoplasm, nucleolus, nucleoplasm, nucleoplasm, nucleus, nucleus, GO:0046872, GO:0005515, GO:0003730, GO:0003723, GO:0003723, GO:0003723, GO:0003712, GO:0003677, metal ion binding, protein binding, mRNA 3'-UTR binding, RNA binding, RNA binding, RNA binding, transcription coregulator activity, DNA binding, GO:1901796, GO:0048255, GO:0045893, GO:0008380, GO:0006367, GO:0006366, regulation of signal transduction by p53 class mediator, mRNA stabilization, positive regulation of transcription, DNA-templated, RNA splicing, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000270648 chr10 64762883 64763172 - CYP2C61P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270652 chr21 36943267 36944125 + DPRXP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270654 chr2 21362292 21364025 - NUTF2P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270655 chr6 143386581 143387409 + AL031320.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270659 chr2 213152970 213153659 + AC079610.2 lincRNA 0 2 2 0 0 0 0 0 4 ENSG00000270661 chr6 112217640 112219570 - Z99289.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000270664 chr2 202995194 202995403 + AC010900.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270665 chr4 72807267 72808192 + HNRNPA1P67 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270666 chr6 27515039 27515274 - AL021918.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270669 chr4 77216416 77216878 - AC008638.3 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000270670 chr10 89837612 89839334 - MARK2P16 processed_pseudogene 1 0 0 1 0 0 1 0 0 ENSG00000270672 chr7 142666272 142667718 + MTRNR2L6 protein_coding 100463482 GO:0005737, GO:0005576, cytoplasm, extracellular region, GO:0048019, receptor antagonist activity, GO:2000272, GO:1900118, negative regulation of signaling receptor activity, negative regulation of execution phase of apoptosis, 0 0 0 0 0 0 0 0 0 ENSG00000270673 chr8 63167725 63168442 - YTHDF3-AS1 lincRNA 101410533 4 3 8 13 12 27 13 16 17 ENSG00000270677 chr2 36656322 36656941 - AC007363.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270678 chrX 120932901 120933152 + AL670379.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270679 chr19 44290081 44290911 + AC138473.1 processed_pseudogene 0 1 1 0 3 4 0 2 0 ENSG00000270680 chr13 29339566 29339869 - AL596092.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270681 chr4 151139991 151141103 + AC095055.1 antisense 0 4 7 8 1 4 11 0 3 ENSG00000270682 chr8 97788210 97788357 - AP003357.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270683 chr9 25937912 25938434 + FAM71BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270685 chr15 20639464 20639890 - IGHV1OR15-6 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270688 chr9 86228815 86228983 + AL137849.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270689 chr11 95143637 95145125 + BUD13P1 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000270690 chr15 65458574 65459534 + AC105129.3 processed_pseudogene 2 0 1 1 1 0 6 0 2 ENSG00000270691 chr9 79850871 79851498 + AL161912.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270694 chr7 72722885 72723089 + AC211469.2 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000270695 chr6 4529722 4530008 + AL133393.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270696 chr2 75660462 75662208 + AC005034.3 antisense 2 4 3 3 1 7 7 1 5 ENSG00000270697 chr5 137761546 137761936 + AC106791.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270698 chr16 85814425 85815062 - AC018695.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270699 chr2 100377421 100377532 + AC012493.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270701 chr11 81842435 81842669 - AP002802.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270702 chr15 41718370 41718672 - AC073657.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270704 chr15 24984864 24985173 + AC124312.4 sense_intronic 0 0 2 0 0 0 1 0 0 ENSG00000270705 chr14 103207748 103207789 + AL161669.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270706 chr5 177265580 177266588 - PRMT1P1 processed_pseudogene 4 5 11 7 16 27 3 7 14 ENSG00000270708 chr1 220220291 220220593 + KF455155.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000270709 chrX 145768095 145768342 + AL109653.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270710 chr1 235565761 235566937 + FO393422.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270711 chr1 180970837 180971247 + AL162431.4 processed_pseudogene 0 0 1 0 2 0 2 0 6 ENSG00000270712 chr9 19957394 19958147 - AL591222.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270713 chr14 38973399 38974085 - AL132994.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270714 chr17 64747264 64747492 - MINOS1P2 processed_pseudogene 1 1 1 0 4 0 0 3 1 ENSG00000270716 chr19 20136933 20137233 + BNIP3P15 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000270718 chr12 39170646 39170880 + AC084373.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270719 chr1 117700029 117700242 - AL390877.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270720 chr4 89119284 89119871 + AC104785.1 lincRNA 0 0 0 0 0 0 3 0 0 ENSG00000270722 chr1 145465617 145465780 - RF00003 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000270723 chr2 69873565 69873819 - RPL23AP92 processed_pseudogene 1 1 2 2 5 2 5 1 0 ENSG00000270725 chr13 97939356 97953539 + AL356580.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270726 chrX 156004218 156022236 + AJ271736.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000270727 chr10 20547171 20547422 + AL590032.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270728 chr1 19297080 19297903 + AL035413.2 processed_pseudogene 0 1 3 0 0 0 0 2 0 ENSG00000270729 chr7 143979121 143980225 - AC004853.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270733 chr1 26263041 26263398 - AL355877.2 processed_pseudogene 0 0 0 4 0 0 0 0 0 ENSG00000270734 chr16 14862380 14862749 - AC136443.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270736 chrX 120966948 120967199 + AL670379.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270739 chr3 16275060 16276632 - AC090953.1 processed_pseudogene 0 0 2 0 0 0 3 0 0 ENSG00000270741 chr5 120658077 120658371 - PRELID3BP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270742 chr1 61124733 61125202 + AC096947.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000270745 chrX 88982215 88982353 - AL731768.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270747 chrX 48336899 48337169 - AL606490.9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270748 chr2 97046588 97046891 + IGKV2OR2-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270749 chr7 57629285 57630151 + AC064862.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270751 chr4 152337655 152338098 + FBXW7-AS1 antisense 102191832 41 33 70 27 42 40 25 28 25 ENSG00000270753 chr11 97086160 97086682 - AP001836.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270754 chr10 65054460 65055003 + NEK4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270755 chr9 130044713 130045081 + AL136141.1 lincRNA 12 4 10 2 5 0 0 1 3 ENSG00000270757 chr2 197500413 197550726 + HSPE1-MOB4 protein_coding This locus represents naturally occurring read-through transcription between the neighboring HSPE1 (heat shock 10kDa protein 1 (chaperonin 10)) and MOB4 (MOB family member 4, phocein) genes on chromosome 2. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011]. 100529241 0 0 0 0 0 0 0 0 0 ENSG00000270759 chrX 39791580 39791904 - AC091810.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270760 chr19 36144081 36148348 - AD001527.1 antisense 3 1 0 1 2 3 0 5 5 ENSG00000270761 chr6 47477243 47477572 - AL355353.1 lincRNA 1 0 0 0 0 0 0 1 0 ENSG00000270762 chr10 42555440 42555724 + FXYD6P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270763 chr7 49258493 49259846 - DDX43P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270764 chr7 105189190 105189814 + AC005070.1 processed_pseudogene 2 0 0 0 0 6 0 0 0 ENSG00000270765 chr17 35744511 35752878 - GAS2L2 protein_coding The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]. 246176 GO:0036064, GO:0035371, GO:0005886, GO:0005884, GO:0005737, ciliary basal body, microtubule plus-end, plasma membrane, actin filament, cytoplasm, GO:0051015, GO:0008093, GO:0008017, GO:0005515, GO:0001965, actin filament binding, cytoskeletal anchor activity, microtubule binding, protein binding, G-protein alpha-subunit binding, GO:1904825, GO:0060296, GO:0051764, GO:0045745, GO:0031110, GO:0001578, GO:0000226, protein localization to microtubule plus-end, regulation of cilium beat frequency involved in ciliary motility, actin crosslink formation, positive regulation of G protein-coupled receptor signaling pathway, regulation of microtubule polymerization or depolymerization, microtubule bundle formation, microtubule cytoskeleton organization, 0 0 0 0 0 0 0 0 0 ENSG00000270766 chr12 31244440 31244685 + AC024940.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270767 chr10 44488335 44488445 - AL356157.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270771 chrX 120971808 120972059 + AL670379.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270772 chr3 57800056 57801448 - PDHA1P1 processed_pseudogene 1 1 1 0 0 2 2 2 2 ENSG00000270773 chr3 129345411 129346164 + AC137695.2 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000270775 chr11 65025390 65026515 - AP000436.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270776 chr2 152539197 152539427 - AC012443.1 processed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000270777 chr20 11001304 11001763 + AL158042.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270778 chr10 127867881 127868487 + BUB1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270779 chr5 110908284 110908713 + AC008782.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270780 chr1 114001433 114002235 - AL591742.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270781 chr17 48899131 48899748 + AC091133.5 processed_pseudogene 0 0 0 3 1 0 0 0 0 ENSG00000270782 chr3 120924612 120925158 - AC072026.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270788 chr14 50050368 50051336 + PDLIM1P1 processed_pseudogene 0 0 0 1 0 5 0 0 0 ENSG00000270789 chr15 32461666 32461809 - AC135983.5 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000270790 chr19 57151587 57151860 - AC025588.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270791 chrX 40758483 40759050 + DPRXP6 processed_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000270792 chr20 10672928 10994924 + AL050403.2 antisense 1 6 7 4 8 13 4 0 10 ENSG00000270793 chr20 20721187 20721879 + LLPHP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270794 chrX 30209423 30210209 + AC005185.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270797 chr7 39788967 39789304 - AC004987.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270798 chr2 121743479 121745921 - AC018737.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270799 chr2 174171891 174172725 + AC013467.2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000270800 chr6 34284887 34426071 - RPS10-NUDT3 protein_coding This locus represents naturally occurring read-through transcription between the neighboring RPS10 (ribosomal protein S10) and NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3) genes on chromosome 6. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]. 100529239 0 0 0 0 0 0 0 0 0 ENSG00000270802 chr19 15338948 15339237 + AC005776.1 processed_pseudogene 1 3 2 2 4 6 5 4 2 ENSG00000270804 chr19 57867885 57868834 + AC010326.4 transcribed_processed_pseudogene 70 109 106 143 124 128 122 91 97 ENSG00000270806 chr17 35760897 35765079 + C17orf50 protein_coding 146853 GO:0005515, protein binding, 0 0 3 0 0 5 0 1 0 ENSG00000270807 chr12 33717853 33718217 + AC024153.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270808 chr10 73740538 73740823 - AC022400.4 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000270809 chr13 42181465 42181921 - CHCHD2P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270811 chr10 7154120 7154236 + AL590095.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270812 chr7 88455309 88456191 + AC002069.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270813 chrX 101337725 101338289 - NANOGNBP3 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000270814 chr15 25169337 25169676 - TMEM261P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270815 chr2 124778454 124778640 - AC019159.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270816 chr14 106482439 106521073 + LINC00221 lincRNA 338005 0 0 0 0 0 0 0 0 0 ENSG00000270818 chr1 242882066 242883475 - AL445675.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270820 chr2 61471188 61484130 + AC016727.1 antisense 84 88 138 76 119 126 73 74 84 ENSG00000270822 chr7 5009164 5009328 - AC092032.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000270823 chr7 130495794 130498427 - AC007938.2 antisense 1 7 1 2 0 0 0 2 3 ENSG00000270824 chr15 21010494 21010516 - IGHD5OR15-5B IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000270826 chrX 93776911 93777384 - Z94722.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270828 chr6 145736911 145737173 - AL023806.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270829 chr17 35808489 35808897 - AC015849.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270830 chr5 50903608 50903743 + AC022441.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270831 chr15 20916686 20935658 - NF1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270832 chr16 89458870 89459437 + AC092120.2 processed_pseudogene 0 1 2 2 4 3 5 2 6 ENSG00000270835 chr21 38204141 38206080 - AP001425.1 transcribed_processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000270837 chr19 58049046 58049346 - HNRNPDLP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270838 chr20 22343693 22343930 - AL121912.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270839 chr5 175483595 175484192 - AC091393.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270842 chr4 82775461 82776101 + AC073413.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270846 chr2 27896116 27897195 - AC021171.2 processed_pseudogene 1 5 1 0 5 10 0 3 9 ENSG00000270849 chr19 34126973 34127423 + CHCHD2P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270850 chr1 32421979 32422319 + AL356986.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270852 chr14 62150656 62152258 - AL390816.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270855 chr18 22418829 22419294 - AC099849.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270856 chr13 61927090 61927272 - AL353765.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270857 chr12 12248991 12249427 + AC007621.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270858 chr12 54802746 54803589 - VDAC1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270859 chr1 242671140 242671576 + AC099785.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270861 chr8 97853021 97853253 - AP002906.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270863 chr12 11512723 11514136 + DDX55P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270864 chr16 32915074 32915536 + IGHV3OR16-6 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270865 chr8 37983070 37983373 + RPL12P48 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270866 chr8 76403998 76405091 + AC067773.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270868 chr11 102306112 102306271 + AP000942.3 processed_pseudogene 2 1 1 0 0 0 0 0 0 ENSG00000270870 chr17 65654914 65655395 + AC004805.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270871 chr17 35816717 35830293 - AC015849.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270872 chr1 143975087 144068350 + SRGAP2D unprocessed_pseudogene 2 4 10 1 9 15 2 3 7 ENSG00000270874 chr10 86854696 86856236 - RPAP2P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000270876 chr19 34923299 34926812 - ZNF30-AS1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270878 chr14 63594031 63595291 - AL136038.4 processed_pseudogene 3 0 0 1 5 2 4 0 5 ENSG00000270880 chr3 113984037 113984655 + AC128687.1 processed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000270882 chr1 149832659 149839767 + HIST2H4A protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Aug 2015]. 8370 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 8 5 0 2 6 15 2 7 4 ENSG00000270883 chr4 152317902 152318364 - AC080078.2 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000270885 chr17 35731649 35743521 + RASL10B protein_coding 91608 GO:0005886, plasma membrane, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0090277, GO:0007165, GO:0003050, positive regulation of peptide hormone secretion, signal transduction, regulation of systemic arterial blood pressure by atrial natriuretic peptide, 1 1 0 1 5 5 0 3 1 ENSG00000270889 chr7 35971147 35971567 - AC087072.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000270890 chr6 143858062 143858689 - AL049844.2 processed_pseudogene 5 0 2 0 0 0 0 1 0 ENSG00000270891 chr2 230836909 230837385 + AC012507.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270892 chr5 134863091 134863433 - AC006077.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270893 chr2 159444117 159444913 + AC008277.2 processed_pseudogene 4 12 2 1 7 1 4 3 0 ENSG00000270894 chr17 35818399 35823713 + AC015849.4 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000270896 chr6 29763258 29763392 - AL645939.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270897 chr11 11182107 11182413 - AC111188.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270898 chr2 53670293 53860160 - GPR75-ASB3 protein_coding 0 0 0 0 1 0 0 0 2 ENSG00000270900 chr6 44898711 44899295 + NUDT19P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270902 chr10 123323422 123323586 - AL160290.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270903 chr11 32591793 32592771 - HNRNPA3P9 processed_pseudogene 2 0 1 2 0 0 4 0 1 ENSG00000270904 chr5 151319422 151319776 + AC008385.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270906 chr5 100048988 100050362 - MTND4P35 processed_pseudogene 0 0 1 1 0 0 1 0 0 ENSG00000270909 chr9 41979352 41983753 + CR788268.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270911 chr1 97855575 97856825 + AC114878.2 processed_pseudogene 14 18 40 14 14 37 25 12 13 ENSG00000270912 chr14 63808546 63808732 + RPS28P1 processed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000270914 chr1 12017216 12017308 - AL096840.1 processed_pseudogene 1 0 0 0 4 1 0 0 0 ENSG00000270915 chr2 202505012 202505343 - AC073410.2 processed_pseudogene 0 0 0 0 0 6 0 0 0 ENSG00000270916 chrX 151023607 151023722 - RPL12P50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270917 chr9 120812475 120812845 - AL161911.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270919 chr15 80580029 80580566 - AC108451.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270920 chr1 185435839 185436047 + MCRIP2P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270921 chr11 123312 126123 + CICP23 processed_pseudogene 5 11 11 1 14 18 4 13 13 ENSG00000270923 chr7 141787815 141788640 + TAS2R6P processed_pseudogene 0 1 0 0 0 0 1 0 1 ENSG00000270924 chr16 33848476 33848644 - AC140658.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270926 chr12 31105105 31106830 - AC008013.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270927 chr1 29904865 29905357 - AL645944.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270929 chr11 59898185 59899133 + SRD5A3P1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000270930 chr2 131646704 131648372 - GRAMD4P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270933 chr7 25948657 25949403 - AC010719.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000270934 chr6 110598093 110598705 + AL512430.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270935 chr6 27268113 27269229 + AL021808.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270936 chr1 210462345 210463012 - AL034351.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270937 chr6 1026494 1027225 - AL033381.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270938 chr14 103279223 103279955 + RAP2CP1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270941 chr3 52734735 52735013 + AC006254.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270945 chr16 74612596 74613221 - HSPE1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270946 chrX 135863776 135871812 - CT45A9 protein_coding 102723680 GO:0032039, integrator complex, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000270947 chr19 22455988 22456459 + AC025811.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270948 chr7 64942143 64942926 - MTDHP1 processed_pseudogene 7 1 1 0 3 5 3 7 0 ENSG00000270951 chr20 58876592 58876981 - AL121917.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000270953 chr7 130507660 130508282 + AC007938.3 antisense 9 6 7 8 10 0 9 8 10 ENSG00000270954 chr9 74804473 74804773 + RPSAP75 processed_pseudogene 13 14 39 4 17 24 8 18 31 ENSG00000270955 chr15 30282533 30288389 + AC135731.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270956 chr2 178541125 178541799 + AC009948.4 antisense 75 57 44 16 44 43 46 42 10 ENSG00000270957 chr7 57485166 57485895 + AC092175.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270959 chr3 188151206 188154057 - LPP-AS2 antisense 339929 34 44 53 20 27 22 23 28 44 ENSG00000270960 chr4 164933086 164933506 - AC106872.11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270961 chr15 20003840 20003862 - IGHD5OR15-5A IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000270962 chr1 143784376 143784671 + AC239800.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270964 chr15 67541072 67542604 - AC016355.1 lincRNA 2 6 4 3 1 0 3 1 0 ENSG00000270965 chr10 115819842 115820487 - NTAN1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270966 chr8 8933721 8934006 - AC087763.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000270969 chr11 107585901 107586903 - AP001823.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270971 chr8 85642777 85646325 - REXO1L8P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270972 chr11 333192 333688 + AC136475.9 lincRNA 19 41 17 11 48 14 14 48 14 ENSG00000270973 chr10 101181144 101181951 - SMARCE1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270975 chr14 68861762 68862525 + MAGOH3P unprocessed_pseudogene 1 1 0 4 3 0 2 3 0 ENSG00000270976 chr1 106780223 106780435 + AL596327.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270977 chr17 35893707 35911023 - AC015849.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270978 chr5 151848886 151850791 + AC091982.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270980 chr8 54191582 54192035 - AC060764.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270981 chr3 157230320 157231208 - AC092944.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270982 chr9 101449801 101449933 + AL353621.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270983 chr6 142062717 142063053 + AL589674.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000270986 chr15 58672296 58672933 + HMGB1P51 processed_pseudogene 1 6 3 4 5 4 3 2 2 ENSG00000270987 chr6 100889603 100890338 + AL133338.2 processed_pseudogene 2 1 5 0 0 5 0 0 0 ENSG00000270988 chr8 1974818 1975314 + AC019257.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270989 chr5 176203314 176203710 - AC139493.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270990 chr7 150676833 150677918 - AC069304.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000270992 chr7 130255902 130262770 + AC024085.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270993 chr17 75060491 75060620 - AC111186.1 processed_pseudogene 3 6 4 1 1 6 2 2 3 ENSG00000270994 chr1 183709305 183710240 - AL157899.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270995 chr9 100120435 100120900 - AL137072.1 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000270996 chr2 75719120 75720018 + AC005034.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000270997 chr7 113415689 113416322 + AC073137.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000270999 chr2 90315366 90315836 - IGKV1OR2-118 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271002 chr17 8199123 8199437 - AC129492.5 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000271003 chr2 95607073 95616592 + AC009237.13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271005 chrX 79177200 79177668 - CTHRC1P1 processed_pseudogene 0 0 1 0 0 1 0 0 0 ENSG00000271009 chr16 73060245 73062316 + AC116667.1 lincRNA 0 0 4 4 1 0 0 0 0 ENSG00000271010 chr19 10598001 10598965 - AC011475.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271011 chr2 178577103 178577622 + AC010680.3 antisense 22 18 25 24 25 44 34 31 37 ENSG00000271013 chr17 35912635 35918010 - LRRC37A9P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271014 chr2 85360798 85360925 - AC062037.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271015 chr2 97335671 97335974 - IGKV2OR2-7D IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271018 chr12 50756892 50757433 + AC013244.1 processed_pseudogene 0 0 0 1 2 0 0 0 0 ENSG00000271021 chrX 115454733 115455194 - AC239600.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271022 chr11 121426645 121427416 - AP002365.1 processed_pseudogene 1 4 1 0 0 0 1 1 0 ENSG00000271024 chr3 90261414 90261708 - HSPE1P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271025 chr11 112036627 112036863 - AP000907.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271026 chr13 28067587 28068334 + KATNBL1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271027 chr7 31330711 31330896 + AC006380.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271028 chr11 43063637 43065932 - AC009643.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271029 chr17 8296505 8297216 - AC135178.6 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000271032 chr19 35014961 35025335 - AC020907.4 antisense 68 79 162 61 112 117 79 58 98 ENSG00000271034 chr3 70125070 70126609 - AC139700.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271035 chr5 28897785 28898274 - AC010385.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271036 chr1 189035961 189036444 - CLPTM1LP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271040 chr6 157323964 157324477 + AL390955.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271041 chrX 120947483 120947735 + AL670379.9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271042 chr6 99082449 99082761 + AL078603.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271043 chr5 80650000 80650086 - MTRNR2L2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271044 chr15 84940504 84941133 - AC087468.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271045 chr5 69349936 69350445 + NDUFB9P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271046 chr10 11679675 11680514 + AL512631.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271047 chr7 56603410 56603553 + AC092447.9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271048 chr8 134673131 134673512 + AC087045.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271049 chr19 34634844 34635717 + AC020910.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271052 chr3 161222911 161223147 - AC108738.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271053 chr4 116858093 116858973 + AC093765.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271056 chrX 87807549 87809883 - AL136363.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271057 chr4 9020857 9021161 - AC073648.5 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000271063 chr17 59281130 59281343 + SNRPGP17 processed_pseudogene 2 0 0 0 0 0 0 0 0 ENSG00000271064 chr7 66748838 66749077 - AC027644.2 processed_pseudogene 2 5 3 17 47 26 29 26 58 ENSG00000271065 chr12 51421956 51424611 - AC107031.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000271070 chr2 108367116 108367938 + GMCL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271071 chr6 26611903 26613109 - AL513548.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271072 chr15 72450657 72451474 + PHBP20 processed_pseudogene 2 0 0 2 0 4 2 1 3 ENSG00000271074 chr2 211104934 211105732 + AC012491.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271075 chr14 52871458 52872217 + AL139317.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271077 chr7 9634270 9635703 + PER4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271078 chr15 32250302 32256125 - AC139426.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271079 chr7 143571801 143574387 + CTAGE15 protein_coding 441294 GO:0070971, GO:0016021, GO:0005789, endoplasmic reticulum exit site, integral component of membrane, endoplasmic reticulum membrane, GO:0035459, GO:0009306, GO:0006888, vesicle cargo loading, protein secretion, endoplasmic reticulum to Golgi vesicle-mediated transport, 3 2 0 3 0 0 0 1 0 ENSG00000271081 chr8 30754236 30754539 - AC009314.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000271086 chr9 99355337 99377240 - NAMA lincRNA 100996569 0 0 0 0 0 0 0 0 0 ENSG00000271088 chrX 35741600 35744582 + AL161722.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271092 chr1 95117923 95247225 + TMEM56-RWDD3 protein_coding This locus represents naturally occurring read-through transcription between the neighboring TMEM56 (transmembrane protein 56) and RWDD3 (RWD domain containing 3) genes on chromosome 1. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but it contains a distinct C-terminus due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010]. 100527978 0 0 1 0 0 0 0 1 0 ENSG00000271093 chr22 32356676 32356988 - IGLCOR22-2 IG_C_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271094 chrX 95453369 95453581 + AL022161.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271095 chr19 21997648 21998840 + BNIP3P28 processed_pseudogene 2 0 0 6 0 0 9 0 0 ENSG00000271096 chr7 24589115 24589407 - SUMO2P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271097 chr2 87301658 87302251 + AC083899.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271098 chr7 2287915 2288428 + IMMP1LP3 processed_pseudogene 0 0 0 2 2 0 0 2 0 ENSG00000271099 chr6 104860449 104862123 + AL357315.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271100 chr11 63698596 63698764 - AP000753.3 processed_pseudogene 0 2 0 0 0 0 1 0 3 ENSG00000271101 chr17 71011997 71013587 + AC005181.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271105 chr16 25069570 25070109 + SCML2P2 processed_pseudogene 4 1 8 2 1 7 6 1 0 ENSG00000271108 chr6 25248263 25248779 + KATNBL1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271109 chr19 34849278 34860576 - AC008555.5 lincRNA 10 1 12 18 6 24 49 10 15 ENSG00000271111 chr6 67456346 67457250 - AL365503.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271113 chr8 69794062 69794734 + AC079089.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271114 chr6 87891424 87891869 + AL590392.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271115 chr2 57048350 57049336 - AC010738.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271117 chr7 36146842 36148024 + AC078841.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271118 chr8 23805933 23806154 - AC012119.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271119 chr5 1594626 1611467 + AC026412.3 lincRNA 1 2 2 7 1 5 5 1 4 ENSG00000271121 chr1 146298170 146298715 + NUDT4P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271122 chr7 35695214 35699413 + AC018647.2 antisense 101930085 21 14 14 20 26 29 14 9 22 ENSG00000271123 chrY 21631683 21632015 - ELOCP5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271127 chr22 15796959 15798346 + AP000526.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000271128 chr5 134081914 134082040 - AC008608.1 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000271129 chr16 69025860 69026643 - AC009027.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271130 chr16 33009175 33009620 + IGHV3OR16-8 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000271131 chr3 178493327 178493810 - PPIAP75 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271133 chr7 20328299 20331747 - AC004130.1 antisense 0 1 0 1 0 0 0 0 0 ENSG00000271134 chr2 60682873 60683244 - AC012498.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271136 chrX 34516920 34517358 + AL592504.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271137 chr3 52753526 52754690 + AC006254.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271138 chr22 25437306 25437823 - IGLVIVOR22-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271140 chr13 57173453 57173632 + PRR20FP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271141 chr2 178616581 178617123 + AC010680.4 lincRNA 17 17 17 10 37 37 23 21 20 ENSG00000271142 chr12 76619386 76620043 + YWHAQP7 processed_pseudogene 0 1 0 3 0 0 0 1 0 ENSG00000271143 chr1 115916497 115916699 + AL357137.1 processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000271146 chr2 61249780 61250621 + AC018889.1 processed_pseudogene 1 0 0 0 0 0 0 0 2 ENSG00000271147 chrX 102599512 102714671 + ARMCX5-GPRASP2 processed_transcript 2 3 4 4 3 8 10 5 10 ENSG00000271148 chr8 49906863 49907446 - AC023762.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271149 chr19 22595479 22596163 - AC011467.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271150 chr19 47794650 47794920 + AC008745.1 processed_pseudogene 0 0 0 0 0 0 0 0 7 ENSG00000271151 chr2 173968351 173969418 + AC016737.1 lincRNA 23 24 28 7 6 17 21 17 12 ENSG00000271153 chr2 242175181 242175634 + RPL23AP88 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271154 chrX 120942623 120942875 + AL670379.10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271155 chr9 95506235 95507636 + AL161729.1 antisense 1 0 3 1 0 7 0 0 0 ENSG00000271156 chr8 88808318 88808908 - AC090578.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271157 chrX 88827554 88829858 - AL022154.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271158 chrX 135464329 135465484 - AL450472.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271159 chr7 95018163 95018397 - HINT1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271161 chr3 47499841 47500407 + BOLA2P2 transcribed_processed_pseudogene 1 0 0 0 1 0 0 0 6 ENSG00000271162 chr6 48952070 48952781 - AL022099.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271163 chr7 2393847 2394131 - AC004840.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271164 chr1 35873270 35873752 - AL139286.1 processed_pseudogene 0 1 0 1 0 0 0 0 1 ENSG00000271166 chr9 71804283 71804826 + AL671309.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271167 chr8 76404058 76407138 + LINC01109 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271171 chr19 34904392 34905057 - AC008555.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271172 chr4 25220403 25220913 + AC104662.1 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000271173 chr10 43728217 43728728 + AL355989.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271174 chr3 66622760 66623102 - AC104440.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271175 chrX 147812733 147812974 - AC016925.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271177 chr12 100525186 100525420 - AC010200.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271178 chr16 33827214 33827661 + IGHV3OR16-13 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000271179 chr2 132080290 132080755 - AC098826.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271180 chr14 55240622 55241080 - AL158801.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271181 chr22 25179309 25179554 - Z99916.2 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000271182 chr19 21634833 21635175 - AC123912.5 processed_pseudogene 5 0 0 0 1 1 0 0 0 ENSG00000271184 chr12 125900421 125901483 - AC005252.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271185 chr7 10940423 10940735 + AC007029.1 lincRNA 0 0 1 0 2 0 0 0 0 ENSG00000271187 chr1 191179521 191179739 - AL713866.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271190 chr13 59262680 59263391 + RPP40P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271192 chr3 43996896 43997443 + AC006058.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271194 chr7 53316149 53316740 + RNF138P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271195 chr15 61674767 61675212 + AC018618.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271196 chr5 138454540 138454732 - AC113403.1 processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000271198 chr14 99964529 99965378 + VDAC3P1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000271199 chrX 73958059 73969485 - AL353804.2 sense_overlapping 2 1 3 6 5 0 3 0 1 ENSG00000271200 chr1 61741998 61742424 - AC099791.2 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000271201 chr14 106206603 106208571 + AC247036.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271202 chr8 91909738 91910167 - PRR13P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271204 chr7 130930209 130932206 - AC016831.4 lincRNA 2 11 6 7 12 20 4 6 24 ENSG00000271205 chrX 87723089 87723238 - Z83818.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271207 chr5 100053686 100055045 - MTCO1P22 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271208 chr6 112234165 112234758 - Z99289.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271209 chrX 96337236 96337912 - BRDTP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271211 chrX 120962087 120962339 + AL670379.11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271214 chr9 114491564 114491741 + AL138895.2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000271215 chr12 12614359 12615907 - RPL21P136 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000271216 chr13 42810366 42812562 - LINC01050 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271218 chr6 53918974 53920788 - AL033384.2 antisense 0 0 0 0 0 0 0 1 1 ENSG00000271219 chr8 121113358 121113919 - AC011626.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271220 chr10 28812899 28813139 + AL355376.2 transcribed_processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000271222 chr17 44596346 44597344 + AC091152.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271225 chr9 64810865 64811429 - BNIP3P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271227 chr6 52688661 52688998 + AL109918.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271228 chr2 32013061 32013368 + AL121655.1 antisense 0 3 0 1 0 0 9 0 0 ENSG00000271230 chr5 6532891 6533200 - AC027334.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271231 chr6 34189780 34191079 + KRT18P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271232 chr15 68749501 68750691 + CARSP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271234 chr6 170297876 170298375 - AL078605.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271235 chr3 22811390 22812047 - AC114477.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271236 chr15 40760597 40760874 + SUMO2P15 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000271237 chr10 49551308 49552652 + HMGB1P50 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271238 chr18 28824652 28824826 - AC023932.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271239 chr17 70778604 70779230 - AC007423.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271240 chr8 133962992 133963259 - AC110741.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271242 chr13 51195881 51196081 + PRELID3BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271243 chr2 61575774 61576394 + AC016727.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271245 chr6 11154929 11155150 - AL136139.1 processed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000271248 chr8 5455218 5455665 - AC091193.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271249 chr3 109701456 109702218 - DIMT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271250 chr13 21216555 21216660 + AL158032.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271251 chr10 8472719 8472952 + AC025946.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271252 chr1 95743096 95759470 + AL683887.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271253 chr7 12685637 12686033 + AC011891.2 processed_pseudogene 0 0 0 1 1 0 0 0 0 ENSG00000271257 chr5 58503295 58503700 + AC008814.1 processed_pseudogene 0 0 1 0 0 0 0 1 7 ENSG00000271259 chr12 89371820 89372359 + AC010201.1 lincRNA 11 6 7 0 0 0 3 2 0 ENSG00000271264 chr1 9780822 9781240 + MZT1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271265 chr6 156774217 156774662 - AL355297.3 lincRNA 0 0 1 0 0 5 0 1 0 ENSG00000271266 chr3 72884234 72884679 + LAPTM4BP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271267 chr1 155566050 155566306 - AL353807.4 processed_pseudogene 3 3 4 1 3 6 2 4 0 ENSG00000271268 chr17 35861093 35861566 - AC015849.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271269 chr1 182733792 182734779 + AL353778.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271270 chr3 129893811 129918575 + TMCC1-AS1 antisense 100507032 16 14 9 4 16 6 12 21 6 ENSG00000271271 chr4 69589309 69639642 - UGT2A2 protein_coding 574537 GO:0016021, GO:0005789, GO:0005575, integral component of membrane, endoplasmic reticulum membrane, cellular_component, GO:0015020, glucuronosyltransferase activity, GO:0052695, GO:0008206, cellular glucuronidation, bile acid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000271272 chr12 42929848 42930579 - AC068802.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271275 chr22 18997138 18997595 - AC007326.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271277 chr1 101882516 101882894 + AL356280.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271278 chr4 39932454 39933561 + ELOCP33 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271283 chr19 19699203 19699409 - AC011458.2 processed_pseudogene 0 0 0 1 0 2 1 1 0 ENSG00000271284 chr2 108423612 108423885 + SMIM12P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271286 chrX 21939461 21940160 + U73023.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271287 chr13 67790407 67790794 + BCRP9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271288 chr15 22178107 22178542 - IGHV1OR15-3 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271290 chrX 86798598 86799226 - AL390058.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271291 chr1 145269604 145269890 - AC245014.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271296 chr5 17614781 17615111 - AC233724.11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271298 chr20 11838355 11838574 + AL080274.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271299 chr19 41073804 41074107 - AC008962.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271302 chr4 121118299 121118734 + AC105254.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271303 chr20 646615 653370 - SRXN1 protein_coding 140809 GO:0005829, GO:0005737, cytosol, cytoplasm, GO:0032542, GO:0016667, GO:0005524, GO:0005515, sulfiredoxin activity, oxidoreductase activity, acting on a sulfur group of donors, ATP binding, protein binding, GO:0098869, GO:0055114, GO:0034599, GO:0006979, cellular oxidant detoxification, oxidation-reduction process, cellular response to oxidative stress, response to oxidative stress, 23 4 29 8 7 8 1 1 14 ENSG00000271304 chr6 35989515 35991374 - DPRXP2 transcribed_processed_pseudogene 8 2 7 4 5 2 8 0 3 ENSG00000271306 chr7 53779783 53780263 + RAC1P9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271307 chr4 189979902 189982379 + AF146191.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271309 chrY 11107389 11107596 - AC140113.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271313 chr18 71932493 71932796 + AC069114.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271314 chr9 95494924 95495379 + AL161729.2 antisense 0 3 1 0 0 0 0 0 0 ENSG00000271315 chr2 16149251 16149394 + AC174048.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271317 chr15 20004797 20004815 - IGHD4OR15-4A IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000271318 chr11 86821143 86821728 - AP000654.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271320 chr2 157917712 157918371 + AC091488.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271321 chr7 143755089 143757696 - CTAGE6 protein_coding 340307 GO:0070971, GO:0016021, GO:0005789, GO:0005575, endoplasmic reticulum exit site, integral component of membrane, endoplasmic reticulum membrane, cellular_component, GO:0035459, GO:0009306, GO:0008150, GO:0006888, vesicle cargo loading, protein secretion, biological_process, endoplasmic reticulum to Golgi vesicle-mediated transport, 0 0 1 0 0 0 0 1 2 ENSG00000271322 chrX 98348451 98348748 - AL357312.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271327 chr12 89367807 89369301 + AC010201.2 lincRNA 50 25 66 4 4 4 2 3 5 ENSG00000271328 chr6 47368943 47369230 + B3GNTL1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271329 chr1 44187943 44189049 - AL035417.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271330 chr7 24674309 24674612 - AC005084.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271332 chr11 28144907 28145204 - AC023206.1 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000271333 chr15 30420283 30420429 - AC019322.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271334 chr5 39520431 39524708 + LINC02104 lincRNA 101926940 0 0 0 0 0 0 0 0 0 ENSG00000271335 chr10 35314552 35336401 - AL117336.3 antisense 9 1 8 3 1 7 6 6 4 ENSG00000271336 chr15 20011153 20011169 - IGHD1OR15-1A IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000271337 chr13 36804198 36805302 - NDE1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271338 chr6 53381519 53382203 + AL591034.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271339 chrX 136788286 136788787 + AL683813.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000271340 chr17 80515657 80515812 + AC120024.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271343 chr10 119093140 119093341 + AL355598.1 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000271344 chr7 128690451 128691717 + AC018638.6 lincRNA 10 10 7 63 29 64 32 20 38 ENSG00000271346 chrX 120876552 120876805 + AC008162.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271347 chr15 24991486 24991753 + AC124312.5 sense_intronic 2 2 2 8 0 3 8 1 2 ENSG00000271349 chr8 96126967 96127801 - AC007992.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271350 chr11 47041027 47041945 - AC103792.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271351 chr2 97322137 97322423 - IGKV1OR2-9 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271353 chr10 119562101 119562530 - AC012468.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271355 chr1 47483698 47484162 - AL356458.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271356 chr2 76260755 76261661 - AC073091.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271357 chr12 32100485 32100735 - AC048344.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271358 chr14 96019484 96019765 + AL137190.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271360 chr10 11611305 11612227 + AL512631.2 antisense 107984208 7 5 15 2 5 6 0 8 0 ENSG00000271361 chr6 3023142 3023772 - HTATSF1P2 processed_pseudogene 180 64 181 42 36 66 38 29 52 ENSG00000271362 chr6 33883170 33883411 + AL138889.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271364 chr15 79984151 79985724 + AC015871.2 processed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000271365 chrY 11107065 11107263 - AC140113.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271366 chr19 35251440 35253639 - AC002128.2 antisense 1 1 4 5 4 0 0 0 0 ENSG00000271367 chr6 53350158 53350705 + AL034374.1 lincRNA 0 0 0 1 1 0 0 0 0 ENSG00000271368 chr7 109763574 109764357 + AC073387.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271369 chr11 34709600 34710161 + AC087783.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271370 chr12 12452103 12452481 - AC007619.2 processed_pseudogene 0 3 0 0 0 0 0 0 3 ENSG00000271373 chr6 53418452 53418737 - NANOGP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271375 chrY 11473727 11474237 - AC134879.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271377 chr8 60906059 60906452 + AC113143.2 processed_pseudogene 1 1 4 0 4 9 3 1 3 ENSG00000271378 chr5 37130430 37130700 + C8orf59P2 processed_pseudogene 0 0 0 0 0 3 0 0 0 ENSG00000271379 chr12 42069935 42070625 - AC023513.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271380 chr1 154961825 154962623 + AL451085.2 antisense 101928120 89 79 98 99 114 110 88 78 95 ENSG00000271381 chr8 85762909 85766931 - REXO1L9P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271382 chr12 93945041 93947813 + AC012464.3 lincRNA 0 0 0 5 0 0 2 0 0 ENSG00000271383 chr1 149390623 149556361 + NBPF19 protein_coding 101060226 GO:0005737, cytoplasm, 1170 575 1620 782 401 1284 841 312 1333 ENSG00000271384 chr9 95406990 95407662 - AL161729.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271385 chr10 91464578 91464708 - AL161798.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271386 chr13 78285838 78286288 + SRGNP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271387 chr1 184385753 184386704 - AL445228.2 lincRNA 0 1 3 0 0 0 0 0 0 ENSG00000271389 chr3 80163327 80164795 + OSBPL9P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271390 chr11 111089870 111090368 - AP003973.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271392 chr17 35757199 35758325 - AC006237.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000271394 chr17 35889558 35889804 + RF00100 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000271395 chr13 89551233 89552389 + LINC02336 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271396 chr15 90284376 90285580 - AC091167.4 processed_pseudogene 0 1 2 1 0 0 0 0 0 ENSG00000271397 chr20 11608436 11609048 - AL109837.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271398 chr1 28247144 28247568 + AL353622.2 lincRNA 3 0 2 0 0 4 1 2 1 ENSG00000271399 chr1 228858010 228858556 + AL078624.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271400 chrX 112381392 112382220 + AL392112.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271401 chr2 178644717 178645179 + AC010680.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271402 chr2 97050729 97051028 + IGKV2OR2-2 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271404 chr7 139228221 139228605 + MZT1P2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000271408 chr10 88699683 88700401 + NAPGP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271409 chr10 70929925 70932057 + AC073176.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271410 chr5 55356308 55357523 - AC020728.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271412 chr11 117336256 117336631 - PRR13P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271413 chr3 176069107 176069252 + AC104640.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271414 chr7 135650972 135651416 + AC093107.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271415 chr1 100196816 100197051 + RPL23AP90 processed_pseudogene 0 0 0 0 2 0 1 1 0 ENSG00000271418 chr12 27093923 27094223 - AC092747.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271419 chr1 114353986 114355178 + AL035410.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271420 chr1 23378380 23379029 - AL109936.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271421 chrX 111930735 111931092 + AC005191.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271423 chr14 76633714 76634028 + CYCSP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271424 chr14 39370279 39370756 - AL157791.2 processed_pseudogene 2 1 0 6 6 0 3 2 0 ENSG00000271425 chr1 146064699 146144804 - NBPF10 protein_coding This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. 100132406 GO:0005737, cytoplasm, GO:0003723, RNA binding, 270 290 361 182 278 304 164 149 252 ENSG00000271426 chr20 13073667 13074312 - AL109983.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271427 chr1 117364899 117365473 - AL358072.1 lincRNA 1 0 0 0 0 2 0 0 0 ENSG00000271428 chr1 22068340 22068827 - AL031281.1 processed_pseudogene 6 5 5 5 12 13 11 11 9 ENSG00000271429 chr13 40224625 40224862 - RPL17P51 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271433 chrX 78699384 78699891 - PPATP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271434 chr10 124447152 124450048 + AL445237.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000271435 chr2 130313934 130314411 - AC068137.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271437 chr13 98553243 98553780 + AL356423.1 processed_pseudogene 0 0 4 0 2 4 0 1 0 ENSG00000271439 chr1 144401069 144401355 - AC246785.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271440 chr6 28633381 28633594 - AL121932.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271443 chr2 38535258 38536249 - AC011247.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271447 chr17 35756249 35795707 - MMP28 protein_coding Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 79148 GO:0062023, GO:0031012, GO:0005737, GO:0005615, collagen-containing extracellular matrix, extracellular matrix, cytoplasm, extracellular space, GO:0008270, GO:0005515, GO:0004222, GO:0004222, zinc ion binding, protein binding, metalloendopeptidase activity, metalloendopeptidase activity, GO:0030574, GO:0030198, GO:0010760, GO:0006508, collagen catabolic process, extracellular matrix organization, negative regulation of macrophage chemotaxis, proteolysis, 0 0 0 0 0 5 1 0 5 ENSG00000271449 chrX 135811668 135820012 - CT45A2 protein_coding This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. [provided by RefSeq, Apr 2014]. 728911 GO:0032039, integrator complex, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000271452 chr2 75669989 75670454 + AC005034.5 sense_intronic 4 0 4 2 3 0 8 1 3 ENSG00000271454 chr9 39159071 39160319 + AL353729.2 processed_pseudogene 17 28 12 26 64 33 33 17 22 ENSG00000271455 chr5 50603229 50603511 + AC112187.2 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000271456 chr16 57332379 57332599 - AC108081.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271457 chrX 87143854 87144748 - AL590229.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271459 chr1 171755803 171756323 - Z98751.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271461 chr20 1756756 1758940 - AL109809.4 processed_pseudogene 18 20 22 18 20 13 25 20 4 ENSG00000271462 chr12 19418927 19419161 - AC091805.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271464 chrX 112319952 112320417 - DPRXP7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271465 chr13 62406058 62406916 - SQSTM1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271466 chr7 63768257 63771047 - CICP24 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271468 chr14 38605255 38606098 + AL357094.1 processed_pseudogene 0 0 1 0 0 0 0 1 0 ENSG00000271474 chr4 95549129 95552457 + AC106881.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000271475 chr1 228776312 228776865 + AL078624.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271477 chr5 155397291 155398353 + AC010591.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271480 chr5 100050719 100051063 - MTND3P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271482 chr7 105204600 105204859 + AC005070.2 processed_pseudogene 0 2 2 4 3 16 2 2 4 ENSG00000271483 chr3 194471923 194472085 + AC108676.2 processed_pseudogene 0 2 1 0 0 5 4 0 0 ENSG00000271484 chr14 55546674 55548123 + ABI1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271486 chr21 19620695 19621545 + AP000403.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271488 chr6 132764660 132765458 + RBM11P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271490 chr12 50806335 50806437 - AC013244.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271491 chr11 23370116 23377644 - AC100767.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271492 chr13 95394049 95394454 + MEMO1P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271494 chr5 151380341 151382381 + AC034205.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271495 chr16 28548331 28548658 - AC020765.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000271496 chr12 79989014 79989218 - SNRPGP20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271498 chr6 112825939 112826470 + AL360085.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271499 chr19 19750618 19752544 + AC011477.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271500 chr12 1695830 1698044 - AC005183.1 processed_pseudogene 1 5 1 9 17 16 15 17 9 ENSG00000271502 chrX 120957227 120957479 + AL670379.12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271503 chr17 35871491 35880793 - CCL5 protein_coding This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]. 6352 GO:0005737, GO:0005615, GO:0005576, cytoplasm, extracellular space, extracellular region, GO:0048020, GO:0046817, GO:0043621, GO:0042803, GO:0042802, GO:0042379, GO:0042056, GO:0031730, GO:0031729, GO:0031726, GO:0031726, GO:0031726, GO:0030298, GO:0016004, GO:0008009, GO:0008009, GO:0008009, GO:0005515, GO:0004672, GO:0004435, CCR chemokine receptor binding, chemokine receptor antagonist activity, protein self-association, protein homodimerization activity, identical protein binding, chemokine receptor binding, chemoattractant activity, CCR5 chemokine receptor binding, CCR4 chemokine receptor binding, CCR1 chemokine receptor binding, CCR1 chemokine receptor binding, CCR1 chemokine receptor binding, receptor signaling protein tyrosine kinase activator activity, phospholipase activator activity, chemokine activity, chemokine activity, chemokine activity, protein binding, protein kinase activity, phosphatidylinositol phospholipase C activity, GO:2000503, GO:2000406, GO:2000110, GO:1901214, GO:0090026, GO:0071407, GO:0071356, GO:0071356, GO:0071347, GO:0071347, GO:0071346, GO:0071346, GO:0070374, GO:0070234, GO:0070233, GO:0070100, GO:0070098, GO:0070098, GO:0070098, GO:0061098, GO:0051928, GO:0050918, GO:0050863, GO:0050796, GO:0050679, GO:0048661, GO:0048247, GO:0048246, GO:0048245, GO:0046427, GO:0045948, GO:0045785, GO:0045744, GO:0045089, GO:0045071, GO:0045070, GO:0044344, GO:0043922, GO:0043547, GO:0043491, GO:0042531, GO:0042327, GO:0042119, GO:0042102, GO:0034112, GO:0033634, GO:0031663, GO:0031584, GO:0031328, GO:0030593, GO:0030335, GO:0019221, GO:0014911, GO:0014068, GO:0010820, GO:0010820, GO:0010759, GO:0010536, GO:0009636, GO:0009615, GO:0007267, GO:0007186, GO:0007186, GO:0007186, GO:0007159, GO:0006954, GO:0006954, GO:0006935, GO:0006887, GO:0006874, GO:0006816, GO:0002676, GO:0002548, GO:0002548, GO:0002407, GO:0000165, positive regulation of natural killer cell chemotaxis, positive regulation of T cell migration, negative regulation of macrophage apoptotic process, regulation of neuron death, positive regulation of monocyte chemotaxis, cellular response to organic cyclic compound, cellular response to tumor necrosis factor, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interleukin-1, cellular response to interferon-gamma, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, positive regulation of T cell apoptotic process, negative regulation of T cell apoptotic process, negative regulation of chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, chemokine-mediated signaling pathway, positive regulation of protein tyrosine kinase activity, positive regulation of calcium ion transport, positive chemotaxis, regulation of T cell activation, regulation of insulin secretion, positive regulation of epithelial cell proliferation, positive regulation of smooth muscle cell proliferation, lymphocyte chemotaxis, macrophage chemotaxis, eosinophil chemotaxis, positive regulation of receptor signaling pathway via JAK-STAT, positive regulation of translational initiation, positive regulation of cell adhesion, negative regulation of G protein-coupled receptor signaling pathway, positive regulation of innate immune response, negative regulation of viral genome replication, positive regulation of viral genome replication, cellular response to fibroblast growth factor stimulus, negative regulation by host of viral transcription, positive regulation of GTPase activity, protein kinase B signaling, positive regulation of tyrosine phosphorylation of STAT protein, positive regulation of phosphorylation, neutrophil activation, positive regulation of T cell proliferation, positive regulation of homotypic cell-cell adhesion, positive regulation of cell-cell adhesion mediated by integrin, lipopolysaccharide-mediated signaling pathway, activation of phospholipase D activity, positive regulation of cellular biosynthetic process, neutrophil chemotaxis, positive regulation of cell migration, cytokine-mediated signaling pathway, positive regulation of smooth muscle cell migration, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of T cell chemotaxis, positive regulation of T cell chemotaxis, positive regulation of macrophage chemotaxis, positive regulation of activation of Janus kinase activity, response to toxic substance, response to virus, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, leukocyte cell-cell adhesion, inflammatory response, inflammatory response, chemotaxis, exocytosis, cellular calcium ion homeostasis, calcium ion transport, regulation of chronic inflammatory response, monocyte chemotaxis, monocyte chemotaxis, dendritic cell chemotaxis, MAPK cascade, 0 0 2 3 1 4 0 0 1 ENSG00000271507 chr15 22202392 22202734 - AC025884.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271508 chr12 43633093 43633281 + AC090525.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271509 chr8 127292233 127292440 + AC018714.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271511 chr14 64361392 64361637 + AL161756.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271519 chrX 35864858 35869631 + AL590065.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271522 chr7 130790208 130791724 + AC016831.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271523 chr20 1591392 1591848 + AL049634.3 processed_pseudogene 0 3 0 0 3 0 0 4 0 ENSG00000271524 chr19 20221869 20222463 + BNIP3P17 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000271525 chr9 134078904 134079444 + ARF4P1 processed_pseudogene 0 0 0 0 0 5 0 0 0 ENSG00000271526 chr7 9084022 9084175 + AC004852.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271527 chr1 165941235 165941769 - AL606495.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271530 chr6 95124 95454 + WBP1LP12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271532 chr2 101068378 101068656 + BBIP1P1 processed_pseudogene 0 0 1 0 0 2 0 0 0 ENSG00000271533 chrX 74209976 74213660 - Z83843.1 sense_intronic 88 99 124 138 143 132 130 93 149 ENSG00000271536 chr2 73877566 73878862 + AC073046.2 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000271537 chr7 139198557 139199142 - AC009220.3 processed_pseudogene 0 0 0 0 0 0 1 1 0 ENSG00000271538 chr4 184506460 184537554 - LINC02427 lincRNA 2 2 5 0 2 0 0 4 0 ENSG00000271543 chr11 47796169 47796379 + AC021443.1 processed_pseudogene 1 0 0 0 0 1 0 0 0 ENSG00000271544 chr4 10238213 10238235 - AC006499.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271546 chr1 148795797 148796325 + AC245389.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271547 chr12 48800576 48801086 - AC117498.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271550 chr7 64678954 64687393 - BNIP3P11 processed_pseudogene 18 21 82 7 18 72 12 9 46 ENSG00000271551 chr6 156776360 156778422 - AL355297.4 antisense 115308161 7 8 10 6 6 8 6 5 6 ENSG00000271553 chr7 128667043 128668156 + AC018638.7 lincRNA 19 32 46 56 48 95 54 36 40 ENSG00000271554 chr1 35992109 36013630 - AL138787.2 antisense 29 17 24 36 38 38 17 15 24 ENSG00000271555 chr8 52722903 52723141 + AC113139.1 sense_intronic 1 0 0 4 3 4 3 4 5 ENSG00000271557 chr11 47841324 47841682 + YPEL5P2 processed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000271558 chr1 187506838 187507119 - AL391813.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271559 chr13 26229332 26229644 - AL138966.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271560 chr8 101337496 101337649 + AP001330.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271563 chr10 25691537 25692323 + HIRAP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271564 chr13 52334295 52341896 + LINC02333 lincRNA 103191607 0 0 0 0 0 0 0 0 0 ENSG00000271565 chr20 6219199 6219443 + AL109618.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271567 chr1 144372875 144373659 - PPIAL4E protein_coding 730262 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0016018, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 0 0 0 0 0 0 0 0 0 ENSG00000271568 chr7 150603561 150604644 - AC069304.3 processed_pseudogene 1 6 0 1 2 0 4 1 2 ENSG00000271569 chr2 97355059 97355335 + IGKV1OR2-6 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271573 chr10 87027184 87027477 + AL136982.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271576 chr1 84076331 84077931 - AL359504.2 lincRNA 0 0 0 3 0 0 0 0 1 ENSG00000271578 chr1 101190520 101190994 + AC119501.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271579 chr12 115299588 115300708 - AC078880.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271580 chr1 205091163 205091946 + AL583832.1 processed_pseudogene 9 16 15 16 16 20 16 2 4 ENSG00000271581 chr6 31356647 31357637 + AL671883.2 unprocessed_pseudogene 30912 143 14875 23286 1118 14088 24446 725 11370 ENSG00000271582 chr7 150484061 150485135 - AC073111.2 processed_pseudogene 0 0 0 0 1 0 0 1 5 ENSG00000271583 chr2 146833501 146834038 - AC103881.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271584 chr11 111091932 111179641 - LINC02550 lincRNA 105369490 0 0 0 0 0 0 0 0 0 ENSG00000271585 chr5 127176696 127177050 - SELENOTP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271586 chr7 44601032 44601487 + AC011894.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271587 chr17 65644308 65644617 + AC004805.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271588 chr1 203400266 203400581 - LARP7P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271589 chrX 74769639 74769798 + AL139395.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271590 chr2 111210995 111212476 - AC108463.3 lincRNA 3 8 5 7 4 0 3 1 2 ENSG00000271595 chrY 17464879 17465214 - ELOCP35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271596 chr12 50949117 50949384 - AC008121.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271597 chr2 69251818 69252364 - AC112230.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271598 chr19 21025915 21026041 - AC008739.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271600 chr11 102308557 102308797 - AP000942.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271601 chr1 145933423 145958001 - LIX1L protein_coding 128077 GO:0005737, GO:0005575, cytoplasm, cellular_component, GO:0003674, molecular_function, GO:0097352, GO:0008150, autophagosome maturation, biological_process, 151 131 217 157 102 190 147 112 99 ENSG00000271602 chr11 4722740 4724171 - KRT8P49 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271605 chr17 64449037 64468643 + MILR1 protein_coding 284021 GO:0005887, GO:0005887, integral component of plasma membrane, integral component of plasma membrane, GO:0005515, GO:0004888, protein binding, transmembrane signaling receptor activity, GO:0098742, GO:0043303, GO:0033004, GO:0007166, cell-cell adhesion via plasma-membrane adhesion molecules, mast cell degranulation, negative regulation of mast cell activation, cell surface receptor signaling pathway, 26 33 35 8 28 26 11 27 24 ENSG00000271606 chr4 155385352 155385492 + AC097467.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271607 chr6 110863860 110864451 + Z84480.1 processed_pseudogene 5 12 6 5 17 5 6 14 12 ENSG00000271608 chr6 108551018 108551207 - AL391646.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271609 chr16 21538487 21538794 + AC005632.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271611 chr7 140934867 140935010 + AC006006.1 processed_pseudogene 0 0 0 0 1 0 3 0 0 ENSG00000271612 chr8 102451763 102452483 + HSPE1P14 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271614 chr12 89708959 89712590 + ATP2B1-AS1 lincRNA 815 794 770 784 944 958 937 972 1205 ENSG00000271615 chr2 57755428 57766052 + ACTG1P22 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271616 chr15 28830619 28831182 - AC055876.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271618 chr1 71738173 71738354 + AL359821.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271620 chr16 33938337 33938799 - IGHV3OR16-7 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271621 chr12 50847925 50848312 - AC013244.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271623 chr16 28364700 28365333 + AC138894.3 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000271624 chr11 131770795 131771638 - AP004372.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271625 chr13 97475742 97476459 + PSMA6P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271626 chr17 60315834 60316215 + AC104763.2 processed_pseudogene 4 6 5 2 0 8 2 2 0 ENSG00000271627 chr2 91723023 91723605 + AC027612.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271629 chr2 21198518 21198896 - AC067959.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271631 chr9 112885158 112885767 + AL139041.1 antisense 6 8 6 1 10 12 13 8 3 ENSG00000271632 chr14 19199763 19200279 - AL589743.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271635 chr2 111558413 111559937 - AC017002.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271638 chr19 20323992 20324568 - BNIP3P19 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271639 chr2 233545482 233547032 + AC019072.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000271642 chr12 46682071 46682713 - MARK3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271643 chr3 33793644 33798539 - AC112220.2 bidirectional_promoter_lncRNA 15 10 12 14 16 18 20 14 11 ENSG00000271644 chr1 144965025 144965135 + AC242498.1 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000271646 chr4 184474802 184477304 + AC099343.3 bidirectional_promoter_lncRNA 99 83 116 96 114 167 94 110 144 ENSG00000271647 chr1 44103306 44104703 - KRT8P47 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271649 chr19 34892029 34898943 - LINC00904 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271650 chr10 42209990 42210383 + AL031601.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271652 chr13 54116476 54116851 + AL356052.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271653 chr3 37216779 37217988 + AC097359.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271654 chr8 18387108 18387777 - AC025062.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271655 chr19 22840432 22840921 - BNIP3P35 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271656 chr14 81003325 81003645 - AC007262.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271657 chr2 62168862 62171163 + AC018462.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271659 chr9 95514045 95514520 + AL161729.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000271660 chrX 146964176 146964485 - Z99497.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271661 chr19 22994968 22995847 + BNIP3P36 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271662 chr3 195650146 195651472 - AC233280.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271664 chr7 149275619 149277992 - AC004890.3 unprocessed_pseudogene 2 2 1 3 0 2 1 1 4 ENSG00000271666 chr19 34825414 34825996 + AC008555.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271667 chr2 116687218 116687387 - AC104408.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271670 chr10 120879256 120880667 - AC010998.2 antisense 4 6 9 8 0 9 3 1 0 ENSG00000271671 chr3 96244732 96245335 - AC107304.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271672 chr22 15826566 15827187 + DUXAP8 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271676 chr4 77112495 77113458 - AC104771.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271677 chrX 130545586 130546474 + Z82195.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271679 chr5 163887506 163887827 - LSM1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271680 chr1 206905928 206906393 + AC098935.2 processed_pseudogene 2 5 0 3 0 0 4 2 8 ENSG00000271681 chr5 178344843 178345316 + AC136601.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271682 chr3 183462851 183463201 - AC092960.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271686 chrX 114389135 114389954 + AL953862.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271687 chr5 100046977 100048785 - MTND5P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271691 chr16 33851785 33852069 - AC140658.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271693 chrX 88369343 88369459 + AL929325.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271696 chr7 57835309 57836251 - AC023141.13 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271697 chr14 67735195 67735350 + AL049779.3 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000271698 chr8 144353228 144355609 - AC233992.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000271699 chr16 29350746 29370272 + SNX29P2 transcribed_unprocessed_pseudogene 1 2 1 0 1 0 1 1 5 ENSG00000271701 chr1 248601416 248601869 + AC098483.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271702 chr18 77632928 77633360 - AC123786.2 processed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000271704 chr19 20351502 20352079 + BNIP3P20 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271705 chr14 81001166 81001786 - RPL17P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271707 chr2 60734895 60735715 - ATP1B3P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271709 chr2 120866378 120867403 - AC017033.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271710 chr10 74641410 74641776 - NDUFA8P1 processed_pseudogene 0 1 0 0 0 0 0 0 1 ENSG00000271711 chr3 150611262 150611877 - AC069236.1 processed_pseudogene 1 6 5 1 0 3 5 1 2 ENSG00000271712 chr14 84998278 84999296 - AL163642.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271714 chr5 74865893 74867854 + AC010501.1 antisense 1 0 1 0 0 0 2 0 2 ENSG00000271715 chr5 10269489 10269918 - AC012640.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271716 chr3 11607184 11610748 + AC022001.2 antisense 5 1 4 1 2 5 7 5 0 ENSG00000271717 chr19 8222153 8239648 - AC022146.2 antisense 0 0 1 0 0 0 0 0 4 ENSG00000271723 chr1 54641786 54742308 + MROH7-TTC4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000271724 chr5 146375591 146376219 - AC011396.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000271725 chr15 81303215 81309391 - AC103858.1 3prime_overlapping_ncRNA 233 199 335 90 169 128 105 161 101 ENSG00000271727 chr6 711533 750729 + AL357054.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271730 chr6 108998482 108999125 + AL390208.1 antisense 33 17 29 21 32 38 24 16 14 ENSG00000271732 chr1 16617391 16617729 + AL137798.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271734 chr6 108030249 108030718 - Z98200.1 lincRNA 10 5 7 26 25 25 28 10 19 ENSG00000271736 chr1 157280716 157283068 + AL138900.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271737 chr5 134005147 134005562 + AC008608.2 lincRNA 1 0 0 1 1 0 0 0 0 ENSG00000271739 chr7 120005976 120006101 - RNU1-29P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000271741 chr1 34981533 35031741 - AC114490.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000271742 chr1 15682873 15683128 - AL121992.2 lincRNA 2 1 0 8 10 19 4 9 9 ENSG00000271743 chr8 6615604 6617198 - AF287957.1 lincRNA 1 0 0 0 0 0 1 0 0 ENSG00000271746 chr1 6393555 6394391 + AL031848.2 antisense 2 0 0 0 0 2 3 2 0 ENSG00000271749 chr17 63393355 63393586 + AC005828.6 unprocessed_pseudogene 3 1 9 1 4 10 2 1 0 ENSG00000271751 chr11 119065263 119065677 - AP003392.5 lincRNA 1 7 6 29 33 30 27 27 23 ENSG00000271752 chr5 50662859 50663266 - AC112187.3 lincRNA 1 0 0 2 0 0 0 0 4 ENSG00000271754 chr6 43519180 43519724 - AL355802.2 antisense 0 2 6 6 1 10 8 2 1 ENSG00000271755 chr6 27404010 27406964 - AL031118.1 lincRNA 0 0 2 0 0 0 1 0 0 ENSG00000271757 chr11 76392196 76392905 + AP002360.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271758 chr11 7704628 7882947 - AC044810.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271761 chr6 57902609 57903148 - AL021368.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000271763 chr15 92602910 92620015 + AC091544.5 antisense 0 0 1 0 0 2 0 0 0 ENSG00000271765 chr6 136545192 136545492 + RN7SKP299 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000271766 chr5 127478295 127478737 + AC010424.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271771 chr5 34158121 34158767 + AC139792.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271774 chr20 53255979 53487274 - AL109930.1 antisense 2 0 1 11 1 1 0 0 0 ENSG00000271776 chr13 78596129 78599619 + AL445209.1 antisense 780529 0 0 0 0 0 0 0 0 0 ENSG00000271778 chr3 158782547 158783124 + AC080013.3 sense_intronic 0 1 0 0 0 3 0 0 0 ENSG00000271779 chr17 64572829 64573081 + AC009994.1 processed_pseudogene 2 0 1 0 2 2 0 3 0 ENSG00000271780 chr14 101948347 101949425 + AL118558.3 lincRNA 10 11 9 136 146 122 135 103 103 ENSG00000271781 chr5 675826 676616 + AC026740.1 antisense 1 0 2 2 0 0 4 0 0 ENSG00000271784 chr20 46689659 46690289 + AL031055.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271787 chr2 10054421 10054866 - AC104794.4 antisense 2 11 8 28 34 31 14 18 37 ENSG00000271788 chr5 43006733 43007543 - AC008875.1 lincRNA 1 0 3 0 0 0 2 3 2 ENSG00000271789 chr6 111297126 111298510 + AL080317.2 lincRNA 1 3 0 1 2 0 2 1 2 ENSG00000271792 chr5 139775305 139775472 + AC008667.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271793 chr6 85557978 85615234 - AL589666.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000271795 chr5 151509453 151512769 + AC011337.1 antisense 1 2 6 2 16 17 12 15 10 ENSG00000271797 chr5 115262505 115263448 + AC008494.3 antisense 17 25 12 2 15 11 4 13 10 ENSG00000271798 chr20 2655067 2655198 + SNORA51 snoRNA 677831 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000271803 chr20 33674517 33675380 + AL121906.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000271806 chr1 2141084 2145279 - AL590822.2 antisense 24 32 29 11 43 22 21 21 26 ENSG00000271810 chr1 112702614 112711433 - AL603832.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000271811 chr1 170667381 170669425 + Z97200.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271814 chrX 12614003 12614197 - RN7SKP290 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000271815 chr5 75363760 75364242 + AC008897.3 lincRNA 4 3 4 0 4 7 5 6 2 ENSG00000271816 chr10 73699151 73730487 - BMS1P4 processed_transcript 729096 1 0 2 5 0 0 1 0 0 ENSG00000271817 chr4 158700691 158700909 + RF00012 snoRNA 7 4 1 0 1 0 1 0 0 ENSG00000271818 chr13 45123093 45123414 + RN7SKP4 misc_RNA 0 0 0 0 0 0 2 0 0 ENSG00000271819 chr15 50347423 50347529 - RNU6-94P snRNA 0 2 3 2 3 0 1 0 0 ENSG00000271820 chr6 170266669 170276762 - AL109910.2 lincRNA 285804 1 0 0 0 0 0 0 0 0 ENSG00000271821 chr6 31200165 31201918 - AL662844.3 lincRNA 34 8 54 2 2 5 2 4 9 ENSG00000271824 chr5 136191468 136193134 - SMIM32 protein_coding 389332 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000271825 chr2 177300600 177302006 + AC019080.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000271826 chrX 115518182 115562731 - PLS3-AS1 antisense 101927352 0 0 0 0 0 0 0 0 0 ENSG00000271828 chr5 56927874 56929573 + AC008937.3 antisense 10 6 11 5 2 3 16 1 8 ENSG00000271830 chr8 103481266 103481619 - AC012213.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271833 chr9 127366770 127367397 + AL445222.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000271841 chr3 17664963 17665025 + RNU7-10P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000271843 chr3 64008082 64008692 - AC012557.1 lincRNA 15 19 29 15 56 79 39 29 50 ENSG00000271848 chr10 73654039 73674719 + AC073389.2 antisense 1 0 0 3 1 4 3 1 0 ENSG00000271849 chr5 109687802 109688329 - AC012603.1 lincRNA 0 0 0 2 0 0 2 2 0 ENSG00000271850 chr13 34348043 34614170 + LINC02343 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271851 chr17 9553323 9555696 - AC087501.4 sense_intronic 2 3 10 0 6 6 12 1 3 ENSG00000271852 chr2 202291332 202291421 + SNORD11B snoRNA 0 0 0 1 0 0 0 0 0 ENSG00000271853 chr1 153626332 153634340 - AL162258.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000271855 chr2 9555899 9556775 + AC073195.1 lincRNA 9 10 4 7 4 15 2 18 36 ENSG00000271856 chr3 108125821 108138610 + LINC01215 lincRNA 101929623 40 23 112 115 68 228 124 47 123 ENSG00000271857 chr6 45421079 45422005 - AL096865.1 antisense 16 10 30 0 1 8 6 2 0 ENSG00000271858 chr3 50365334 50368197 + CYB561D2 antisense 11068 GO:0031982, GO:0030659, GO:0016021, GO:0005789, GO:0005783, GO:0005783, vesicle, cytoplasmic vesicle membrane, integral component of membrane, endoplasmic reticulum membrane, endoplasmic reticulum, endoplasmic reticulum, GO:0046872, GO:0020037, GO:0020037, GO:0016491, GO:0005515, GO:0004322, GO:0004322, metal ion binding, heme binding, heme binding, oxidoreductase activity, protein binding, ferroxidase activity, ferroxidase activity, GO:0055114, oxidation-reduction process, 7 7 8 25 19 14 6 9 21 ENSG00000271860 chr6 97283303 98399872 + AL589740.1 lincRNA 101927314 0 0 0 0 0 0 0 0 0 ENSG00000271862 chr5 83049376 83050964 - AC104118.1 lincRNA 10 7 4 0 11 4 2 8 4 ENSG00000271868 chr2 3496956 3497428 + AC114810.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271869 chr8 30155830 30156232 - AC026979.2 lincRNA 23 15 22 15 9 23 9 7 26 ENSG00000271870 chr3 3152942 3153435 + AC024060.1 antisense 14 26 45 45 48 83 35 47 33 ENSG00000271871 chr5 141952419 141953375 + AC005740.4 antisense 2 6 2 2 3 6 1 5 1 ENSG00000271874 chr5 34651457 34651888 - AC025754.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271880 chr10 86970741 87010126 + AGAP11 processed_transcript 119385 GO:0005634, nucleus, GO:0046872, GO:0005096, metal ion binding, GTPase activator activity, GO:0043547, positive regulation of GTPase activity, 0 0 0 0 0 0 0 0 0 ENSG00000271882 chr8 101208148 101208558 + AP001330.5 lincRNA 0 0 0 0 0 0 2 0 3 ENSG00000271886 chrX 53556223 53556341 - MIR98 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407054 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1905563, GO:1904646, GO:1900016, GO:1900015, GO:0070104, GO:0070102, GO:0043525, GO:0042532, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032720, GO:0032720, GO:0032717, GO:0032717, GO:0032715, GO:0032693, GO:0032691, GO:0032691, GO:0010716, GO:0010629, GO:0008285, negative regulation of vascular endothelial cell proliferation, cellular response to amyloid-beta, negative regulation of cytokine production involved in inflammatory response, regulation of cytokine production involved in inflammatory response, negative regulation of interleukin-6-mediated signaling pathway, interleukin-6-mediated signaling pathway, positive regulation of neuron apoptotic process, negative regulation of tyrosine phosphorylation of STAT protein, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of tumor necrosis factor production, negative regulation of interleukin-8 production, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, negative regulation of interleukin-10 production, negative regulation of interleukin-1 beta production, negative regulation of interleukin-1 beta production, negative regulation of extracellular matrix disassembly, negative regulation of gene expression, negative regulation of cell population proliferation, 1 3 0 0 0 0 0 0 0 ENSG00000271888 chr6 15243923 15245000 - AL136162.1 lincRNA 12 10 5 8 15 3 3 6 5 ENSG00000271889 chr2 61151433 61162105 - AC016747.2 lincRNA 105374758 4 3 1 0 0 0 0 3 0 ENSG00000271890 chr1 159581620 159582648 - OR10AE1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271892 chr5 17107360 17107789 - AC026790.1 lincRNA 0 0 0 5 3 3 5 1 0 ENSG00000271893 chr2 195451778 195515699 - AC064834.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271894 chr2 56147630 56386171 + AC007744.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000271895 chr1 11029659 11030528 + AL109811.3 antisense 5 2 13 12 19 11 6 4 6 ENSG00000271897 chr6 11607552 11607981 + AL357518.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271898 chr3 19314848 19314931 - MIR4791 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616291 0 0 0 0 0 0 0 0 0 ENSG00000271899 chr6 156779678 156779731 - MIR4466 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616154 0 0 0 0 0 0 0 1 0 ENSG00000271900 chr17 19601840 19602256 + AC025627.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271901 chr13 34545929 34671182 - AL161716.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271904 chr5 88433892 88498697 - AC091826.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271907 chrX 115126316 115126444 - SNORA35B snoRNA 109617004 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000271911 chr6 761675 780648 + AL357054.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271913 chr6 158988178 159088114 + AL035530.2 antisense 105378083 1074 1365 1238 2276 1635 1622 5298 2966 2562 ENSG00000271914 chr1 35929720 35930115 - AL139286.2 lincRNA 4 3 1 1 9 1 1 6 3 ENSG00000271916 chr3 53797764 53798019 - AC012467.1 antisense 0 0 0 3 0 0 2 1 0 ENSG00000271917 chr1 164828436 164829952 + AL357568.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000271918 chr5 116083807 116085416 - AC034236.2 antisense 3 5 9 7 7 22 12 1 9 ENSG00000271919 chr17 63331984 63332539 - AC005828.7 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271922 chr3 154329716 154329819 + RF01210 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000271923 chr9 87998229 87998335 - RNU6-86P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000271924 chr2 161409554 161409670 + RNA5SP108 rRNA_pseudogene 1 1 0 4 0 0 0 0 0 ENSG00000271926 chr5 72953635 72954274 - AC008972.1 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000271930 chr8 98943595 98944098 + AC016877.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271931 chr6 89080164 89080667 - AL353135.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000271932 chr7 140884072 140884178 + RNU6-85P snRNA 0 1 0 0 1 3 1 0 0 ENSG00000271933 chr10 84138420 84140582 - AL603756.1 antisense 296 244 312 166 186 168 192 144 167 ENSG00000271934 chr1 248498308 248498649 + OR2AS2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271936 chr2 24825610 24826717 + AC012073.1 antisense 0 2 0 13 1 0 5 2 4 ENSG00000271937 chr3 44337941 44338552 - AC104187.1 antisense 0 0 1 4 0 1 0 3 2 ENSG00000271938 chr8 42139461 42139752 - AC103724.4 lincRNA 3 8 7 4 11 2 4 13 12 ENSG00000271943 chr3 27638315 27638776 + AC098614.4 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000271945 chr6 76774983 76775860 + AL590426.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271947 chr2 6905724 6906301 - AC017076.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000271949 chr1 89633140 89933250 + AC093423.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000271952 chr2 10878269 10885118 + LINC01954 lincRNA 101929733 0 0 0 0 0 0 0 0 0 ENSG00000271955 chr2 59218680 60100200 - AC007100.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271958 chr4 38618265 38619437 - AC021860.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271959 chr8 141434545 141437954 + AC100803.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000271963 chr12 133115692 133122340 + AC026786.2 antisense 0 0 1 2 2 0 2 0 1 ENSG00000271964 chr3 16314439 16314987 + AC090948.1 antisense 2 2 2 22 1 7 3 6 8 ENSG00000271966 chr8 67343975 67345087 + AC021321.1 lincRNA 4 8 1 3 6 13 1 8 6 ENSG00000271967 chr6 70596438 70596980 + AL583856.2 lincRNA 0 0 0 1 0 0 1 0 0 ENSG00000271968 chr14 105969729 105972269 - ADAM6 transcribed_unprocessed_pseudogene 8755 0 0 0 0 0 0 0 0 0 ENSG00000271969 chr12 6964949 6965382 + U47924.1 antisense 0 0 1 5 2 4 2 7 8 ENSG00000271971 chr8 93715378 93716113 - AC120053.1 antisense 4 10 3 1 2 7 14 5 2 ENSG00000271973 chr3 48672455 48672733 + AC141002.1 lincRNA 1 2 0 0 2 10 0 0 0 ENSG00000271974 chr17 64905883 64906018 - RDM1P4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271976 chr3 53858994 53861576 - AC012467.2 antisense 7 13 2 16 10 6 12 8 1 ENSG00000271977 chr4 3915187 3924274 - AC226119.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271978 chr6 5031756 5054423 - AL359643.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271980 chr5 10264597 10267146 - AC012640.4 antisense 68 66 98 45 65 69 48 87 82 ENSG00000271981 chr10 22332587 22332981 - AL158211.2 lincRNA 0 0 0 0 1 1 0 0 0 ENSG00000271982 chr18 49491664 49491729 - SNORD58B snoRNA 26790 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000271983 chr15 80693216 80693707 - AC023302.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000271984 chr20 45892694 45893419 - AL008726.1 antisense 162 177 220 145 203 166 106 128 144 ENSG00000271985 chr10 79526508 79526631 - BX248123.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000271986 chr6 73487590 73487877 - RN7SL827P misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000271989 chr1 10429881 10430677 - AL139424.1 antisense 0 0 1 1 2 0 0 0 0 ENSG00000271991 chr2 19902025 19902569 + AC013400.1 bidirectional_promoter_lncRNA 1 1 2 2 0 11 0 7 2 ENSG00000271992 chr1 70445071 70445536 + AL354872.2 lincRNA 0 0 2 0 0 3 0 0 0 ENSG00000271993 chr3 37182107 37182734 + AC126118.1 antisense 1 3 0 0 0 0 0 0 0 ENSG00000271996 chr2 177306373 177310572 + AC019080.4 antisense 0 0 0 0 0 0 0 1 0 ENSG00000271998 chr5 10195187 10197622 - AC034229.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272002 chr2 7260871 7261504 + AC010904.2 lincRNA 3 0 2 0 1 0 0 1 0 ENSG00000272004 chr1 1659325 1662602 + FO704657.1 antisense 98 67 69 132 121 86 164 95 43 ENSG00000272006 chr17 64951498 64951609 - AC037487.3 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000272008 chr6 87151159 87155285 - AL139274.2 antisense 3 3 1 32 27 40 28 26 41 ENSG00000272009 chr6 28078792 28081130 - AL121944.1 antisense 8 12 9 180 169 199 152 154 110 ENSG00000272010 chr8 65591850 65592472 - AC100814.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000272015 chr21 38894785 38894867 + RF00091 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000272017 chr6 99568097 99569096 + AL137784.2 antisense 6 4 5 9 5 9 0 2 2 ENSG00000272020 chr3 126160283 126160445 - RNU1-30P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000272021 chr5 95849309 95849855 + AC008592.5 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000272023 chr5 132963770 132964164 + AC010240.3 lincRNA 0 4 0 35 24 24 17 9 6 ENSG00000272024 chr8 51950284 51950690 + AC064807.4 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000272025 chr2 65158662 65158860 + RF00090 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000272027 chr2 34692290 34703606 - AC073218.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272028 chr12 51014134 51014241 - RNU6-87P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000272030 chr1 153631438 153634397 - AL162258.2 antisense 1 1 1 3 2 4 3 3 1 ENSG00000272031 chr1 145959442 145964582 - ANKRD34A protein_coding 284615 2 3 6 4 13 9 10 8 9 ENSG00000272033 chr1 167379108 167381000 + AL136984.1 sense_intronic 18 20 23 10 6 19 8 7 18 ENSG00000272034 chr11 17074654 17074744 - SNORD14A snoRNA 26822 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 5 3 7 8 23 10 13 12 ENSG00000272036 chr11 72615063 72615130 - MIR139 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406931 GO:0005615, extracellular space, GO:1903231, GO:0003730, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, RNA polymerase II complex binding, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000272037 chr8 102256392 102257821 + AP002907.1 antisense 122 143 217 128 157 166 112 117 141 ENSG00000272040 chr5 75608817 75609983 + AC010245.2 lincRNA 3 5 0 2 3 3 0 2 4 ENSG00000272043 chr8 122780760 122781071 + AC016405.2 lincRNA 0 0 0 5 7 12 4 9 10 ENSG00000272046 chr13 87807634 87811232 - AL445647.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272047 chr6 158168350 158199344 + GTF2H5 protein_coding This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]. 404672 GO:0005730, GO:0005675, GO:0005669, GO:0005669, GO:0005654, GO:0000439, nucleolus, transcription factor TFIIH holo complex, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, transcription factor TFIIH core complex, GO:0005515, protein binding, GO:0071480, GO:0070911, GO:0070816, GO:0033683, GO:0006370, GO:0006368, GO:0006367, GO:0006366, GO:0006366, GO:0006363, GO:0006362, GO:0006361, GO:0006296, GO:0006295, GO:0006294, GO:0006294, GO:0006293, GO:0006289, GO:0006283, GO:0000717, GO:0000462, cellular response to gamma radiation, global genome nucleotide-excision repair, phosphorylation of RNA polymerase II C-terminal domain, nucleotide-excision repair, DNA incision, 7-methylguanosine mRNA capping, transcription elongation from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, termination of RNA polymerase I transcription, transcription elongation from RNA polymerase I promoter, transcription initiation from RNA polymerase I promoter, nucleotide-excision repair, DNA incision, 5'-to lesion, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex assembly, nucleotide-excision repair, preincision complex stabilization, nucleotide-excision repair, transcription-coupled nucleotide-excision repair, nucleotide-excision repair, DNA duplex unwinding, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 27 14 23 43 12 27 24 15 19 ENSG00000272049 chr5 8444949 8445535 - AC091965.4 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000272050 chr20 62477870 62478594 + AL499627.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272051 chr1 55484871 55484972 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000272054 chr2 37208875 37212677 + AC007390.2 sense_intronic 48 51 68 89 55 44 87 47 49 ENSG00000272055 chr10 13217269 13217375 + RNU6-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000272056 chr2 27053618 27054276 - AC013472.3 antisense 3 2 1 12 1 0 5 7 0 ENSG00000272057 chr5 14872332 14872713 + AC016575.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000272068 chr1 156637783 156641004 - AL365181.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272070 chr5 141326210 141329357 + AC005618.1 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000272071 chr5 6779458 6779998 + AC122710.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272072 chr7 107192559 107193300 - AC004492.1 antisense 23 49 19 119 173 176 184 78 176 ENSG00000272075 chr11 118067237 118067539 + RN7SL828P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000272076 chr8 51810110 51810681 - AC090186.1 lincRNA 0 3 2 2 4 6 2 5 2 ENSG00000272077 chr3 44667412 44669364 + AC124045.1 lincRNA 1 3 1 2 0 3 5 2 0 ENSG00000272078 chr1 10639241 10654333 + AL139423.1 antisense 94 80 86 106 70 107 98 49 100 ENSG00000272079 chr16 3006120 3007388 + AC004233.3 lincRNA 69 119 123 40 119 89 57 84 79 ENSG00000272080 chrX 50014598 50014683 + MIR502 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574504 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000272081 chr5 72955206 72955699 - AC008972.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272084 chr1 19072110 19075511 - AL137127.1 3prime_overlapping_ncRNA 5 13 13 45 61 61 28 40 34 ENSG00000272085 chr5 158464465 158464678 + AC091979.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272086 chr5 32174471 32175272 + AC025181.2 lincRNA 14 8 14 4 10 8 1 0 5 ENSG00000272087 chr3 158693120 158693768 - AC080013.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272088 chr1 3487246 3487627 + AL512413.1 lincRNA 0 0 3 2 0 2 0 0 0 ENSG00000272092 chr8 38382364 38383461 + AC087623.2 lincRNA 9 11 5 2 3 4 4 1 9 ENSG00000272094 chr1 90860550 90862920 - AC091614.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272096 chr3 155437538 155437823 - RN7SL715P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000272097 chr6 10743324 10747663 - AL024498.1 lincRNA 1 1 0 0 1 2 0 1 3 ENSG00000272100 chr1 52353487 52353877 + AL513218.1 antisense 48 43 44 31 44 26 26 31 15 ENSG00000272102 chr6 105273220 105273760 - AL133406.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272103 chr5 36861736 36867238 - AC026741.1 lincRNA 2 1 3 4 2 8 11 0 0 ENSG00000272104 chr3 50350892 50367923 + Z84492.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272106 chr1 1613758 1615795 - AL691432.2 antisense 94 100 94 71 105 80 73 91 57 ENSG00000272108 chr5 141118680 141120765 + AC244517.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272109 chr5 96804353 96806105 + AC008906.2 antisense 0 1 1 4 4 0 4 1 0 ENSG00000272112 chr5 151724831 151725356 - AC011374.2 lincRNA 5 3 12 3 12 17 3 3 4 ENSG00000272113 chr9 32820261 32820350 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000272114 chr6 43770429 43770616 - AL136131.3 antisense 45 86 107 287 281 454 433 345 384 ENSG00000272115 chr8 144409492 144409976 + AC233992.3 antisense 0 0 1 0 0 0 1 0 0 ENSG00000272121 chr3 43998081 43999149 - AC006058.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272123 chr5 53089016 53089468 - AC008966.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272128 chr8 38099471 38099931 + AP006545.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272129 chr6 80355424 80356859 + AL359715.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272130 chr5 21569755 21570045 + AC091946.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272134 chr17 64881091 64881181 + AC103810.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272137 chr6 79561132 79561602 + AL451064.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272138 chr8 79768142 79802842 + LINC01607 lincRNA 101927067 0 0 0 0 0 0 0 0 0 ENSG00000272139 chr5 122311297 122311673 - AC113349.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272140 chr10 73703735 73713581 - AC022400.5 lincRNA 1 0 4 3 4 1 2 1 1 ENSG00000272141 chr1 1169357 1170343 + AL390719.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272142 chr6 5029972 5043449 + LYRM4-AS1 lincRNA 100129461 0 0 0 0 0 0 0 0 0 ENSG00000272143 chr13 102394630 102395703 + FGF14-AS2 lincRNA 283481 0 0 0 2 0 0 0 0 0 ENSG00000272144 chr5 43061395 43062441 + AC025171.4 lincRNA 1 4 13 9 6 18 2 6 9 ENSG00000272145 chr1 40690380 40692066 - NFYC-AS1 antisense 96 65 96 54 62 56 63 81 69 ENSG00000272146 chr3 57597715 57600927 + ARF4-AS1 antisense 106144532 8 4 2 7 2 3 5 0 8 ENSG00000272148 chr2 27062428 27062907 - AC013403.2 antisense 3 1 0 5 3 2 6 11 0 ENSG00000272149 chr3 33144104 33147721 - AC112211.1 antisense 3 12 20 20 13 18 9 6 22 ENSG00000272150 chr1 145572345 145607858 - NBPF25P transcribed_unprocessed_pseudogene This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Sep 2013]. 101929780 16 15 15 10 4 14 8 5 4 ENSG00000272153 chr1 3785008 3785538 + AL365330.1 antisense 6 17 22 9 19 8 13 14 28 ENSG00000272154 chr5 141100242 141174391 - AC244517.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272155 chr8 65714334 65714778 - AC055822.1 antisense 8 6 2 11 16 11 11 8 14 ENSG00000272156 chr2 54082554 54085066 + AC008280.3 lincRNA 1 3 5 3 4 3 1 1 1 ENSG00000272157 chr8 24956621 24957110 + AC107373.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272158 chr14 65003325 65003767 - AL139022.2 antisense 3 1 1 2 3 0 1 2 0 ENSG00000272159 chr8 38408048 38408742 - AC087623.3 antisense 18 17 20 20 20 20 50 18 26 ENSG00000272160 chr10 109869858 109869992 + RNU4-5P snRNA 4 2 3 7 5 4 3 1 3 ENSG00000272161 chr1 2326201 2326693 - AL589739.1 sense_intronic 1 4 0 0 0 0 0 0 0 ENSG00000272162 chr6 10747794 10930423 + AL024498.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272163 chr8 24912165 24914717 - AF106564.1 antisense 1 0 0 0 0 0 1 0 0 ENSG00000272164 chr17 63004672 63005152 - AC005972.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272166 chr3 25555543 25555606 - RF01161 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000272167 chr1 214028891 214030901 - AL606537.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272168 chr6 21664772 22368328 + CASC15 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000272170 chr6 43074331 43074739 - AL355385.1 antisense 18 30 37 14 27 24 21 21 25 ENSG00000272172 chr8 143290399 143290621 - AC138696.2 antisense 3 0 0 0 2 0 0 0 0 ENSG00000272173 chr12 6943508 6944604 - U47924.2 antisense 47 23 47 156 69 174 101 49 106 ENSG00000272175 chr1 51801028 51801307 + AL050343.2 antisense 6 3 4 7 7 4 0 2 6 ENSG00000272180 chr2 55952158 56181652 + AC011306.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272181 chr3 64019508 64019925 + AC012557.2 antisense 3 0 6 9 17 7 14 3 28 ENSG00000272182 chr3 58428255 58428815 + AC135507.1 antisense 22 23 37 23 39 32 19 31 18 ENSG00000272183 chr2 74501717 74502365 + AC005041.3 antisense 1 0 0 3 0 5 0 1 0 ENSG00000272186 chr11 119067374 119067698 - AP003392.6 antisense 1 6 1 28 35 43 17 27 19 ENSG00000272189 chr6 136550661 136552554 + AL024508.2 antisense 2 3 2 0 0 0 0 0 3 ENSG00000272192 chr8 65842752 65843331 + AC100812.1 lincRNA 4 0 0 6 6 10 2 5 6 ENSG00000272195 chr1 244969350 244971088 - AL356512.1 antisense 8 19 17 9 22 35 11 15 19 ENSG00000272196 chr1 149851061 149851624 + HIST2H2AA4 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Aug 2015]. 723790 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, GO:0003674, protein heterodimerization activity, protein binding, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 73 57 119 27 44 25 29 47 23 ENSG00000272197 chr5 154718383 154718689 - RN7SL803P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000272202 chr3 57078943 57080101 + AC097358.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272203 chr5 132817248 132818000 - AC004775.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272205 chr1 167219831 167220512 - AL451050.2 lincRNA 1 1 1 0 3 5 3 5 3 ENSG00000272209 chr6 13825432 13826574 + AL023583.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272211 chr2 196151263 196154881 + AC114760.2 antisense 95 148 162 91 268 408 117 123 257 ENSG00000272215 chr12 111564821 111564883 - RF00066 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000272217 chr6 33246075 33246856 - AL645940.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272218 chr4 186892552 186892983 + AC108865.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272219 chr7 101960116 101961894 + AC005072.1 sense_intronic 0 0 1 1 0 3 1 0 3 ENSG00000272220 chr17 64892728 64892845 + AC103810.7 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272221 chr6 31394289 31395495 - AL645933.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272223 chr6 43033897 43034405 - AL136304.1 antisense 0 6 4 3 2 0 2 4 6 ENSG00000272226 chr1 58812808 58813342 - AL136985.2 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000272230 chr7 114653345 114653455 + MIR3666 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500896 0 0 0 0 0 0 0 0 0 ENSG00000272232 chr9 70579163 70579461 - RN7SL726P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000272234 chr5 42806394 42806997 + AC008945.1 antisense 0 0 0 0 0 2 0 1 0 ENSG00000272235 chr1 3306636 3310096 - AL590438.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272236 chr6 29751965 29752207 - AL645939.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272237 chr2 227887631 227887744 + RF00402 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000272239 chr5 147401760 147401996 + AC011373.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272240 chr8 234347 234887 - AC004908.1 antisense 0 1 4 1 12 33 8 7 11 ENSG00000272243 chr6 74530248 74734279 - AL356277.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272247 chr3 158801257 158801935 - AC080013.5 antisense 2 2 0 46 36 37 25 22 14 ENSG00000272248 chr6 4018713 4019202 + AL138831.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272249 chr8 97132835 97133379 - AP003117.2 antisense 4 9 1 2 9 3 4 15 5 ENSG00000272253 chr14 67657105 67657211 - RNA5SP386 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272254 chr8 73042910 73043346 - AC022893.3 antisense 0 0 0 2 4 0 0 1 1 ENSG00000272255 chr5 139644460 139645002 - AC113361.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272256 chr8 30082758 30083467 + AC044849.1 antisense 930 1029 1148 274 437 407 384 528 414 ENSG00000272259 chr20 63009383 63085071 + LINC01749 lincRNA 63930 0 0 0 0 0 0 0 1 0 ENSG00000272262 chr1 202410108 202410207 - RNU6-89P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000272263 chr3 12832219 12832728 - AC034198.2 antisense 0 2 0 0 0 0 0 1 0 ENSG00000272264 chr8 80032724 80033300 - AC009686.2 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000272265 chr5 116078110 116078570 - AC034236.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272267 chr8 9555144 9556520 - AC021242.3 antisense 71 71 87 47 62 120 36 51 44 ENSG00000272269 chr6 17706257 17707344 + AL138724.1 antisense 206 191 297 87 92 107 90 80 101 ENSG00000272273 chr6 30742929 30743592 + IER3-AS1 antisense 0 2 2 2 0 11 1 1 3 ENSG00000272274 chr13 106617810 106631359 + LINC00551 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000272275 chr2 10767875 10770058 - AC092687.3 lincRNA 0 0 2 1 1 0 0 0 0 ENSG00000272277 chr6 3068045 3068894 - AL031963.3 antisense 45 32 46 41 48 45 39 23 74 ENSG00000272279 chr6 1528364 1528911 - AL512329.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272281 chr13 52219344 52334277 - TPTE2P2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272282 chr3 27712910 27714005 + LINC02084 lincRNA 2 0 7 11 2 48 5 3 13 ENSG00000272288 chr6 34696317 34697470 + AL451165.2 antisense 101929243 168 128 168 273 355 405 225 196 254 ENSG00000272293 chr8 450714 451343 - AC083964.1 antisense 0 1 0 6 1 7 0 6 7 ENSG00000272296 chr5 181241814 181241892 - SNORD96A snoRNA 619571 0 0 0 0 0 0 0 0 0 ENSG00000272297 chr4 186426546 186555328 - AC018709.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272298 chr15 92699040 92724277 - AC091544.6 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272301 chr11 76389648 76390128 + AP002360.3 lincRNA 0 0 0 0 0 2 0 1 0 ENSG00000272304 chr4 66003281 66016792 + AC096721.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272305 chr3 52969119 53099453 - AC096887.1 protein_coding 2 0 3 0 2 1 10 0 0 ENSG00000272308 chr5 60866457 60866935 - AC104113.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000272311 chr19 39264382 39265817 + IFNL4P1 unprocessed_pseudogene 2 1 1 1 1 0 2 0 0 ENSG00000272312 chr6 27001208 27001648 - AL133255.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272316 chr6 57908560 57913911 - AL021368.2 lincRNA 2 5 6 25 10 22 10 9 9 ENSG00000272319 chr10 42579724 42579858 + AL022345.1 unprocessed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000272320 chr6 3311662 3313650 + AL445309.1 antisense 0 0 4 1 0 0 0 0 0 ENSG00000272321 chr8 98436669 98439290 + AP003355.2 antisense 1 1 0 0 3 0 0 0 0 ENSG00000272323 chr5 34837549 34839278 - AC026801.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272324 chr5 10761065 10770294 + AC012629.2 antisense 106 102 117 26 42 27 34 72 35 ENSG00000272325 chr6 34279679 34392674 - NUDT3 protein_coding NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]. 11165 GO:0005829, GO:0005829, GO:0005737, GO:0005634, cytosol, cytosol, cytoplasm, nucleus, GO:0052842, GO:0052840, GO:0050072, GO:0034432, GO:0034431, GO:0008486, GO:0008486, GO:0005515, GO:0000298, GO:0000287, inositol diphosphate pentakisphosphate diphosphatase activity, inositol diphosphate tetrakisphosphate diphosphatase activity, m7G(5')pppN diphosphatase activity, bis(5'-adenosyl)-pentaphosphatase activity, bis(5'-adenosyl)-hexaphosphatase activity, diphosphoinositol-polyphosphate diphosphatase activity, diphosphoinositol-polyphosphate diphosphatase activity, protein binding, endopolyphosphatase activity, magnesium ion binding, GO:1901911, GO:1901909, GO:1901907, GO:0071544, GO:0071543, GO:0043647, GO:0015961, GO:0007267, adenosine 5'-(hexahydrogen pentaphosphate) catabolic process, diadenosine hexaphosphate catabolic process, diadenosine pentaphosphate catabolic process, diphosphoinositol polyphosphate catabolic process, diphosphoinositol polyphosphate metabolic process, inositol phosphate metabolic process, diadenosine polyphosphate catabolic process, cell-cell signaling, 399 546 442 216 555 469 311 486 401 ENSG00000272328 chr7 8303741 8341343 + AC007128.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272329 chr13 96948018 96949584 + AL353581.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272330 chr16 73014319 73014476 - AC002044.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000272333 chr19 35718019 35738878 + KMT2B protein_coding This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]. 9757 GO:0035097, GO:0035097, GO:0005654, GO:0005634, histone methyltransferase complex, histone methyltransferase complex, nucleoplasm, nucleus, GO:0045322, GO:0042800, GO:0042800, GO:0008270, GO:0005515, unmethylated CpG binding, histone methyltransferase activity (H3-K4 specific), histone methyltransferase activity (H3-K4 specific), zinc ion binding, protein binding, GO:0097692, GO:0080182, GO:0051569, GO:0051568, GO:0051568, GO:0045893, GO:0045652, GO:0044648, GO:0030728, GO:0016458, GO:0009994, GO:0007613, GO:0001541, histone H3-K4 monomethylation, histone H3-K4 trimethylation, regulation of histone H3-K4 methylation, histone H3-K4 methylation, histone H3-K4 methylation, positive regulation of transcription, DNA-templated, regulation of megakaryocyte differentiation, histone H3-K4 dimethylation, ovulation, gene silencing, oocyte differentiation, memory, ovarian follicle development, 1885 2117 2447 1436 1623 1476 1409 1217 1250 ENSG00000272334 chr3 36973117 36973672 - AC011816.2 lincRNA 0 1 0 1 0 0 2 0 0 ENSG00000272335 chr5 44826076 44828592 + AC093297.2 lincRNA 1 3 12 5 2 6 2 2 4 ENSG00000272337 chr15 51907200 51907305 + RNU6-90P snRNA 0 0 2 0 3 0 1 0 0 ENSG00000272338 chr8 33360839 33361415 - AC067838.1 lincRNA 4 0 1 4 6 0 6 1 0 ENSG00000272341 chr6 16764346 16766883 + AL137003.2 lincRNA 78 60 329 17 21 38 21 11 44 ENSG00000272342 chr2 739588 740164 - LINC01115 lincRNA 339822 0 0 0 0 0 0 0 0 0 ENSG00000272343 chr8 56222688 56223173 + AC107952.2 lincRNA 0 0 0 1 0 0 1 0 1 ENSG00000272344 chr14 100981975 100982046 + SNORD114-21 snoRNA 767599 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000272345 chr6 24700907 24701793 - AL031775.1 antisense 71 45 38 33 47 28 37 46 24 ENSG00000272346 chr17 64940606 64940717 + AC103810.8 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272347 chr5 1005039 1006623 + AC116351.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272351 chrX 69672479 69672597 + RNA5SP506 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000272354 chr5 65020614 65020989 + AC092354.1 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000272356 chr6 111309203 111313517 + AL080317.3 antisense 78 95 71 80 65 35 78 58 32 ENSG00000272359 chr3 196747192 196747324 - RNU4-89P snRNA 6 8 6 3 1 12 1 5 0 ENSG00000272360 chr3 58490830 58491291 - AC116036.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272361 chr7 16593626 16594224 - AC005014.2 lincRNA 0 0 0 1 2 0 0 0 0 ENSG00000272362 chr1 234644666 234647571 + AL160408.5 lincRNA 0 0 0 3 2 0 0 0 0 ENSG00000272366 chr10 22340377 22340615 - AL158211.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272368 chr12 50112197 50165618 + AC074032.1 antisense 2 13 14 5 23 8 6 10 5 ENSG00000272369 chr12 46537502 46652550 + AC008035.1 lincRNA 1 3 1 3 2 2 3 1 0 ENSG00000272370 chr5 65020038 65020551 + AC092354.2 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000272371 chr1 52554818 52555273 + AL591167.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000272372 chr16 56351886 56353524 - AC009102.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272374 chr6 35220370 35224630 - Z97832.2 lincRNA 4 4 3 10 7 25 22 4 12 ENSG00000272375 chr8 30197404 30198048 + AC026979.3 lincRNA 1 6 3 3 2 0 1 0 6 ENSG00000272379 chr6 13290018 13290490 - AL008729.2 lincRNA 316 426 360 2459 2093 3116 2787 1783 2598 ENSG00000272380 chr18 5840695 5840833 + MIR3976 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616244 0 0 0 0 0 0 0 0 0 ENSG00000272381 chr10 31187883 31261910 + AL356258.1 lincRNA 0 0 0 0 1 0 0 0 2 ENSG00000272382 chr5 43033716 43034635 + AC025171.5 lincRNA 5 0 1 0 2 7 0 0 9 ENSG00000272383 chr17 63088162 63089197 - AC006270.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272384 chr8 122779971 122780830 - AC016405.3 lincRNA 0 2 1 7 27 19 3 25 14 ENSG00000272386 chr17 76551352 76551750 + AC015802.5 sense_intronic 6 2 7 2 18 11 3 3 0 ENSG00000272387 chr10 42583241 42583375 + AL022345.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272391 chr7 75416787 75486271 - POM121C protein_coding 100101267 GO:0043657, GO:0031965, GO:0016021, GO:0005789, GO:0005643, GO:0005635, host cell, nuclear membrane, integral component of membrane, endoplasmic reticulum membrane, nuclear pore, nuclear envelope, GO:0017056, GO:0008139, GO:0005515, structural constituent of nuclear pore, nuclear localization sequence binding, protein binding, GO:1900034, GO:0075733, GO:0060964, GO:0019083, GO:0016925, GO:0016032, GO:0006606, GO:0006409, GO:0006406, GO:0006405, GO:0006110, regulation of cellular response to heat, intracellular transport of virus, regulation of gene silencing by miRNA, viral transcription, protein sumoylation, viral process, protein import into nucleus, tRNA export from nucleus, mRNA export from nucleus, RNA export from nucleus, regulation of glycolytic process, 1012 1087 1165 682 905 817 747 630 714 ENSG00000272393 chr7 133082829 133082932 + RNU6-92P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000272395 chr19 39246314 39248856 - IFNL4 polymorphic_pseudogene This gene is a polymorphic pseudogene which, in some humans, encodes the interferon (IFN) lambda 4 protein. Humans are polymorphic for the dinucleotide TT/deltaG allele. Compared to the ancestral state in non-human primates, the TT allele produces a frameshift in the coding region of this gene which is predicted to induce nonsense-mediated mRNA decay. This allele, and an allele in the first intron of this gene, have experienced a rapid increase in frequency and show indications of positive selection. The ancestral states of these alleles are associated with an impaired ability to clear hepatitis C virus. This gene, like other type III interferons (IFNs), interacts with the IFN lambda receptor complex (IFNLR) whose signaling is generally restricted to epithelial cells. This gene resides in a cluster of four type III IFN genes and at least two pseudogenes on chromosome 19q13.2. In general, interferons are produced in response to viral infection and block viral replication and propagation to uninfected cells by activating the JAK-STAT pathway and up-regulating antiviral genes. Multiple alternatively spliced transcripts have been described for this gene but their biological validity and protein coding status is still being ascertained. [provided by RefSeq, May 2017]. 101180976 GO:0005737, GO:0005615, GO:0005615, cytoplasm, extracellular space, extracellular space, GO:0005125, GO:0005102, cytokine activity, signaling receptor binding, GO:0051607, GO:0051607, GO:0050778, GO:0045087, GO:0007260, GO:0007260, defense response to virus, defense response to virus, positive regulation of immune response, innate immune response, tyrosine phosphorylation of STAT protein, tyrosine phosphorylation of STAT protein, 1 0 0 0 0 3 0 0 0 ENSG00000272396 chr19 43360685 43368970 - AC005392.3 antisense 0 10 2 3 0 3 4 4 0 ENSG00000272397 chr6 146948528 146951159 - AL138916.2 lincRNA 0 0 0 1 0 1 0 3 0 ENSG00000272398 chr6 106969831 106975627 - CD24 protein_coding This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and B cells and modulates growth and differentiation signals to these cells. The precursor protein is cleaved to a short 32 amino acid mature peptide which is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. This gene was missing from previous genome assemblies, but is properly located on chromosome 6. Non-transcribed pseudogenes have been designated on chromosomes 1, 15, 20, and Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 100133941 GO:0045121, GO:0031362, GO:0016020, GO:0009986, membrane raft, anchored component of external side of plasma membrane, membrane, cell surface, GO:0030296, GO:0019901, GO:0005515, protein tyrosine kinase activator activity, protein kinase binding, protein binding, GO:2000768, GO:0098609, GO:0097193, GO:0072139, GO:0072112, GO:0061098, GO:0045730, GO:0043627, GO:0043408, GO:0043406, GO:0042632, GO:0042325, GO:0042104, GO:0032913, GO:0032600, GO:0032597, GO:0031295, GO:0030856, GO:0016477, GO:0016055, GO:0007204, GO:0002768, GO:0002237, GO:0001959, GO:0001775, GO:0001666, positive regulation of nephron tubule epithelial cell differentiation, cell-cell adhesion, intrinsic apoptotic signaling pathway, glomerular parietal epithelial cell differentiation, glomerular visceral epithelial cell differentiation, positive regulation of protein tyrosine kinase activity, respiratory burst, response to estrogen, regulation of MAPK cascade, positive regulation of MAP kinase activity, cholesterol homeostasis, regulation of phosphorylation, positive regulation of activated T cell proliferation, negative regulation of transforming growth factor beta3 production, chemokine receptor transport out of membrane raft, B cell receptor transport into membrane raft, T cell costimulation, regulation of epithelial cell differentiation, cell migration, Wnt signaling pathway, positive regulation of cytosolic calcium ion concentration, immune response-regulating cell surface receptor signaling pathway, response to molecule of bacterial origin, regulation of cytokine-mediated signaling pathway, cell activation, response to hypoxia, 29 49 77 8 26 61 10 22 35 ENSG00000272400 chr17 64847386 64847728 + AC103810.9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272402 chr6 24706747 24707151 + AL031775.2 antisense 8 10 11 149 96 126 103 40 84 ENSG00000272405 chr1 156641666 156644887 - AL365181.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272406 chr5 93741640 93743500 + AC108102.1 lincRNA 0 0 0 2 6 0 2 0 0 ENSG00000272407 chr20 41196647 41196938 - AL022394.1 transcribed_processed_pseudogene 0 0 0 0 0 0 2 0 4 ENSG00000272410 chr3 10249372 10285796 + AC022384.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272411 chr5 148970340 148970653 + AC116312.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272412 chr11 130310180 130310476 + RN7SL778P misc_RNA 0 0 0 0 1 0 0 0 0 ENSG00000272414 chr4 76251721 76311129 + FAM47E-STBD1 protein_coding This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011]. 100631383 0 0 0 0 0 0 0 0 0 ENSG00000272416 chr5 53880293 53881051 - AC025175.1 lincRNA 0 4 3 6 0 5 2 4 1 ENSG00000272417 chr5 10203600 10204040 - AC034229.4 lincRNA 0 1 0 2 2 0 4 0 3 ENSG00000272418 chr15 78280950 78282190 - AC090607.4 sense_intronic 12 12 26 83 74 38 43 13 23 ENSG00000272419 chr1 145164099 145216058 - LINC01145 transcribed_unprocessed_pseudogene 70 54 124 67 85 152 94 74 85 ENSG00000272420 chr1 2363061 2363628 - AL513477.2 sense_intronic 0 2 3 4 2 2 7 5 4 ENSG00000272425 chr8 81275399 81277570 - AC009902.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272426 chr1 16904339 16904776 - BX284668.6 lincRNA 3 0 6 5 0 5 3 1 2 ENSG00000272428 chr6 133540784 133541174 + AL450270.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272430 chr10 46632387 46635472 + AL356056.3 lincRNA 6 3 18 2 2 3 1 18 3 ENSG00000272431 chr5 178938677 178939223 - AC104117.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272432 chr1 25247837 25248321 + AL031432.3 lincRNA 2 1 0 2 11 6 4 6 1 ENSG00000272434 chr3 49029316 49029706 + AC137630.3 antisense 32 11 31 121 65 107 52 55 51 ENSG00000272435 chr12 34205699 34205817 + RNA5SP357 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272436 chr10 10257169 10257466 - CUX2P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272438 chr1 904834 915976 + AL645608.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272439 chr14 99444306 99444412 + RNU6-91P snRNA 1 1 0 0 0 0 0 0 0 ENSG00000272440 chr3 158695367 158695581 + AC080013.6 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000272442 chr6 44273194 44378957 + AL353588.1 protein_coding 0 0 2 0 0 2 0 0 0 ENSG00000272443 chr1 147445579 147446133 + OR13Z2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272444 chr14 101952416 101953063 + AL118558.4 lincRNA 2 2 5 6 9 19 5 6 3 ENSG00000272445 chr6 76557653 76557754 - RNU6-84P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000272446 chr6 139159157 139277181 - AL158850.1 processed_transcript 2 0 0 0 0 0 2 1 0 ENSG00000272447 chr10 79825902 79827602 + AL135925.1 lincRNA 642361 77 83 79 22 55 25 51 52 33 ENSG00000272449 chr1 2530064 2547460 + AL139246.5 lincRNA 5 1 2 5 6 3 10 6 6 ENSG00000272455 chr1 1409096 1410618 + AL391244.3 lincRNA 3 3 3 4 2 2 5 0 2 ENSG00000272456 chr8 134722947 134723949 + AC087045.2 lincRNA 0 0 0 0 0 0 0 2 0 ENSG00000272457 chr8 53876150 53876649 - AC113194.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272458 chr14 100884483 100884576 + MIR432 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574451 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000272459 chr5 177554824 177555364 + AC139795.3 lincRNA 0 1 0 0 0 0 0 0 5 ENSG00000272460 chr15 25243614 25243695 + SNORD115-40 snoRNA 100033814 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000272461 chr18 962592 976883 - AP005328.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272462 chr6 25992662 26001775 + U91328.1 lincRNA 43 31 42 43 71 63 42 47 40 ENSG00000272463 chr6 708592 711405 - AL357054.4 lincRNA 0 0 5 1 2 6 1 4 5 ENSG00000272465 chr6 2437549 2438249 + AL031768.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272468 chr6 27122657 27123221 - AL021807.1 lincRNA 15 28 28 15 39 29 28 32 42 ENSG00000272469 chr8 73833773 73834042 - RN7SL760P misc_RNA 0 0 2 0 0 4 0 2 0 ENSG00000272472 chr6 122643388 122644771 + AL512283.1 sense_intronic 0 0 0 0 0 0 1 0 0 ENSG00000272473 chr19 781002 781862 - AC006273.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272474 chr14 100938187 100938264 + SNORD113-5 snoRNA 767565 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000272476 chr6 107957413 107959986 + AL024507.2 antisense 20 22 27 10 11 29 6 18 14 ENSG00000272477 chr3 18408680 18409635 - AC144521.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000272478 chr1 25831913 25832134 - AL020996.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272479 chr8 40519565 40520158 - AC010857.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272480 chr1 147482238 147482628 + OR13Z3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272482 chr1 12618900 12619244 - AC254633.1 lincRNA 0 0 0 0 1 2 0 0 0 ENSG00000272483 chr3 11611602 11612197 + AC022001.3 antisense 2 3 2 3 6 0 4 4 0 ENSG00000272485 chr6 774747 780214 - AL392183.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272489 chr10 79663192 79664786 + AL132656.3 sense_intronic 2 3 3 1 1 4 1 0 0 ENSG00000272491 chr1 48227888 48229561 - AL109659.2 antisense 1 6 0 8 3 0 1 1 3 ENSG00000272494 chr5 176006145 176007387 + OR1X1P unprocessed_pseudogene 0 0 0 1 0 0 0 0 3 ENSG00000272498 chr3 16339308 16339871 + AC090948.2 antisense 3 2 2 5 6 15 8 2 1 ENSG00000272501 chr6 31195200 31198037 - AL662844.4 antisense 171 0 91 26 0 48 56 0 55 ENSG00000272502 chr8 120812219 120813359 + AC104958.2 antisense 0 0 8 0 2 0 4 2 1 ENSG00000272505 chr8 10486807 10489666 + AC104964.3 lincRNA 18 14 35 44 48 82 45 38 40 ENSG00000272506 chr1 65003470 65004087 - AL357078.3 lincRNA 1 6 2 9 25 20 3 7 7 ENSG00000272507 chr10 12116280 12116379 - RNU6-88P snRNA 0 1 2 2 6 0 3 3 2 ENSG00000272508 chr10 86993432 87024732 + AL136982.6 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272509 chr8 94884609 94885070 + AC087752.4 antisense 3 1 3 0 3 3 1 2 0 ENSG00000272510 chr1 15565611 15565956 - AL121992.3 antisense 4 0 2 3 3 0 1 2 0 ENSG00000272512 chr1 995966 998051 - AL645608.7 lincRNA 1 0 7 420 321 383 395 174 257 ENSG00000272514 chr6 87407983 87464465 + CFAP206 protein_coding 154313 GO:0097649, GO:0036064, GO:0031514, GO:0005930, GO:0001534, A axonemal microtubule, ciliary basal body, motile cilium, axoneme, radial spoke, GO:0005515, protein binding, GO:1901317, GO:0035082, GO:0007288, GO:0003356, GO:0003341, regulation of flagellated sperm motility, axoneme assembly, sperm axoneme assembly, regulation of cilium beat frequency, cilium movement, 0 1 0 0 1 0 0 1 0 ENSG00000272515 chr13 87607907 87609234 - AL355578.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272516 chr10 22332404 22332987 + AL158211.4 lincRNA 1 0 0 1 1 1 0 0 0 ENSG00000272518 chr8 79956465 79957381 - AC036214.2 sense_intronic 1 1 4 2 0 5 5 1 2 ENSG00000272519 chr2 213266995 213276152 - AC079610.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272523 chr5 108727825 108728260 - LINC01023 lincRNA 100652853 0 1 3 0 0 4 6 0 5 ENSG00000272525 chr5 73497550 73498293 - AC099522.2 lincRNA 0 0 1 0 2 0 3 0 0 ENSG00000272529 chr3 16345126 16346440 + AC090948.3 antisense 2 1 4 17 4 8 5 1 6 ENSG00000272533 chr14 103337849 103337974 + SNORA28 snoRNA 677811 GO:0005730, nucleolus, GO:0006396, RNA processing, 1 1 3 39 80 85 42 34 50 ENSG00000272536 chr10 72582803 72583086 + RN7SL840P misc_RNA 0 0 0 0 0 0 0 1 1 ENSG00000272537 chr7 16471184 16471373 + AC005014.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272540 chr6 30723105 30723877 - AL662797.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272541 chr6 57855891 57856468 - AL021368.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272542 chr13 102888858 102889834 + AL137246.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272543 chr3 50675080 50675163 + MIR4787 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616138 GO:1903561, extracellular vesicle, 2 0 0 0 0 0 0 0 0 ENSG00000272545 chr16 48640473 48641052 + AC023813.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272549 chr6 167666840 167679270 - LINC02538 lincRNA 401286 0 0 0 0 0 0 0 0 0 ENSG00000272551 chr2 176611437 176612249 - AC017048.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272554 chr3 24496272 24499580 - AC012087.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272555 chr2 218818690 218819144 + AC009974.1 lincRNA 5 9 5 3 10 17 8 4 4 ENSG00000272556 chr7 45769105 45815263 + GTF2IP13 transcribed_unprocessed_pseudogene 19 17 22 32 31 46 24 20 21 ENSG00000272558 chr6 25983812 25999167 - U91328.2 antisense 236 230 298 246 259 292 258 218 270 ENSG00000272559 chr11 4736178 4737078 - OR51F3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272562 chr1 226060712 226061876 - AL512343.2 antisense 29 17 26 13 3 12 5 5 12 ENSG00000272563 chr2 113432600 113436042 + AC016745.2 lincRNA 0 0 1 0 0 7 0 0 0 ENSG00000272564 chr2 85904279 85904727 + AC012511.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000272566 chr4 189703881 189704490 - AF250324.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272567 chr4 112272968 112273316 - AC109347.2 lincRNA 1 6 2 0 0 4 2 2 0 ENSG00000272568 chr7 28979967 29013367 + AC005162.3 antisense 100506497 0 0 0 0 0 0 0 0 0 ENSG00000272569 chr11 58171098 58171721 + OR5BL1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272572 chr10 100911103 100912739 - AL138762.1 antisense 0 0 0 0 0 3 0 0 0 ENSG00000272573 chr3 52833114 52835219 - MUSTN1 protein_coding 389125 GO:0005634, nucleus, GO:0042246, GO:0035988, GO:0002062, tissue regeneration, chondrocyte proliferation, chondrocyte differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000272574 chr1 162593103 162593754 + AL596325.2 sense_intronic 1 2 4 7 22 17 18 8 7 ENSG00000272575 chr11 128208749 128241441 + LINC02098 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272576 chr4 51918772 51919381 + AC027271.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000272578 chr22 23658094 23717356 - AP000347.1 transcribed_unprocessed_pseudogene 75 94 137 39 106 115 79 54 44 ENSG00000272582 chr22 37950965 37951778 + AL031587.3 antisense 0 0 0 0 3 0 0 2 0 ENSG00000272583 chr1 121518366 121518829 - AL592494.3 lincRNA 2 0 0 1 1 1 1 0 0 ENSG00000272588 chr4 757022 757740 - AC139887.4 antisense 8 14 10 11 11 15 12 12 17 ENSG00000272589 chr10 73796514 73801399 - ZSWIM8-AS1 antisense 100507331 16 18 14 12 22 14 14 7 11 ENSG00000272592 chr10 61684892 61685388 - AL451049.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272593 chr9 128391461 128392016 + AL359091.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272595 chr7 5103719 5120245 + OR10AH1P transcribed_unprocessed_pseudogene 4 1 0 15 0 0 11 1 0 ENSG00000272597 chr3 107329430 107329962 + AC063944.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272599 chr10 73124573 73125532 - AC016394.1 antisense 7 5 2 4 12 9 21 12 12 ENSG00000272600 chr22 20889206 20891214 - AC007308.1 antisense 23 36 42 16 44 22 15 24 19 ENSG00000272601 chr7 128466563 128469171 + AC010655.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272602 chr4 53285 88211 + ZNF595 protein_coding This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]. 152687 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 31 19 38 34 25 33 21 40 35 ENSG00000272604 chr7 105571083 105573660 + AC073073.2 antisense 1 1 6 3 1 7 1 1 0 ENSG00000272606 chr2 55617909 55618373 + AC015982.1 antisense 6 7 12 0 9 14 3 5 12 ENSG00000272609 chr3 138004649 138005122 - AC016252.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272610 chr3 65872815 65954558 - MAGI1-IT1 sense_intronic 151877 0 0 0 0 0 0 0 0 0 ENSG00000272617 chr16 69328644 69334871 - AC026464.6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272619 chr7 143363899 143364229 + AC093673.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272620 chr4 7754090 7778928 + AFAP1-AS1 antisense This gene produces a long non-coding RNA that is overexpressed in tumor cells and may promote cancer cell metastasis. [provided by RefSeq, Dec 2017]. 84740 16 10 19 8 11 18 20 12 17 ENSG00000272622 chr2 226800146 226811029 + AC010735.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272625 chr18 2920966 2921685 + AP000919.4 antisense 120 184 147 89 155 96 82 114 110 ENSG00000272626 chr4 68901008 68906983 - AC021146.12 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272627 chr10 72766560 72767052 + AC016542.1 sense_intronic 3 1 0 5 5 6 14 1 0 ENSG00000272630 chr10 73098044 73101297 - AL731563.3 lincRNA 13 10 10 5 9 16 9 6 10 ENSG00000272631 chr10 86749754 86756298 - AC067750.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000272632 chr4 141430831 141431284 + AC097504.2 lincRNA 0 0 0 0 0 6 0 1 0 ENSG00000272634 chr11 4709569 4712421 + OR51F5P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272635 chr19 27793488 27984984 + AC006504.7 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272636 chr17 142789 181636 - DOC2B protein_coding There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008]. 8447 GO:0098793, GO:0031201, GO:0005886, GO:0005737, presynapse, SNARE complex, plasma membrane, cytoplasm, GO:0019905, GO:0005544, GO:0005509, syntaxin binding, calcium-dependent phospholipid binding, calcium ion binding, GO:0061669, GO:0048791, GO:0045956, GO:0032024, GO:0031340, GO:0008104, spontaneous neurotransmitter secretion, calcium ion-regulated exocytosis of neurotransmitter, positive regulation of calcium ion-dependent exocytosis, positive regulation of insulin secretion, positive regulation of vesicle fusion, protein localization, 0 0 1 0 1 0 0 0 0 ENSG00000272638 chr7 30424672 30425412 + AC006027.1 antisense 11 32 32 57 41 37 33 15 43 ENSG00000272639 chr15 100861924 100885329 + AC015712.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272642 chr11 127188885 127223449 + AP003121.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272644 chr2 219069354 219069809 - AC097468.3 lincRNA 0 3 3 0 1 7 1 2 5 ENSG00000272645 chr1 223951394 223992594 - GTF2IP20 transcribed_unprocessed_pseudogene 55 82 77 61 85 76 96 67 66 ENSG00000272646 chr4 182881777 182882203 - AC079766.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272647 chr7 99558695 99607810 + AC005020.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272650 chr4 53997415 53997712 - AC110792.3 lincRNA 5 10 7 4 7 5 6 8 3 ENSG00000272654 chr1 153977743 153979160 + AL358472.2 lincRNA 0 0 1 1 2 4 5 0 4 ENSG00000272655 chr7 44013562 44019170 - POLR2J4 transcribed_unprocessed_pseudogene 24 16 37 23 26 17 31 23 42 ENSG00000272656 chr3 139349024 139349371 - AC024933.1 antisense 3 3 2 2 1 4 0 0 8 ENSG00000272657 chr21 34073592 34360033 + AP000317.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272660 chr3 179584271 179584410 - AC090425.1 antisense 1 3 0 0 0 2 0 1 0 ENSG00000272661 chr7 151240399 151240972 + AC021097.1 antisense 11 23 44 22 35 46 15 18 49 ENSG00000272662 chr3 119497678 119498181 - AC073352.1 lincRNA 0 0 0 0 3 0 0 0 0 ENSG00000272663 chr2 48440043 48440597 - AC093635.1 lincRNA 2 3 0 2 0 1 0 3 0 ENSG00000272664 chr11 4718612 4719559 + OR51C4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272666 chr22 50542305 50542906 - U62317.1 lincRNA 105373098 130 253 215 163 276 351 179 254 269 ENSG00000272667 chr2 127886556 127887185 + AC012306.2 lincRNA 12 12 20 8 22 4 13 6 4 ENSG00000272668 chr1 159854870 159867685 + AL590560.1 antisense 107985216 67 51 54 38 52 38 68 27 36 ENSG00000272669 chr22 38742625 38743115 + AL021707.6 antisense 195 178 262 657 571 704 615 354 593 ENSG00000272672 chr1 89939601 89940147 + AL391497.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272674 chr5 141181399 141186399 + PCDHB16 protein_coding This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. 57717 GO:0045202, GO:0016021, GO:0005887, synapse, integral component of membrane, integral component of plasma membrane, GO:0005509, calcium ion binding, GO:0016339, GO:0007416, GO:0007268, GO:0007156, GO:0007155, calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules, synapse assembly, chemical synaptic transmission, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000272676 chr11 57045091 57045390 + OR5AO1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272677 chr4 82374301 82384027 + AC124016.1 antisense 4 15 8 38 21 27 8 17 22 ENSG00000272678 chr3 123283593 123283983 + AC112503.1 antisense 0 0 1 3 0 0 0 0 0 ENSG00000272679 chr9 136800366 136829466 + AL355987.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272681 chrX 154632470 154633182 - FAM223B lincRNA 286967 0 0 0 0 2 0 0 0 0 ENSG00000272682 chr22 19124309 19128449 - AC004471.2 lincRNA 3 10 4 6 13 6 16 16 7 ENSG00000272685 chr11 58108720 58109661 - OR9I3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272686 chr7 123749068 123751166 + AC006333.2 antisense 0 5 2 9 10 4 2 5 2 ENSG00000272688 chr18 3246401 3247086 - AP005329.3 lincRNA 22 14 15 12 1 13 7 8 0 ENSG00000272689 chr22 30421206 30421536 - AC004832.4 sense_intronic 0 0 0 3 0 11 2 0 4 ENSG00000272690 chr3 75435348 75457486 + LINC02018 lincRNA 107986100 7 4 9 8 8 23 14 2 12 ENSG00000272691 chr1 85578500 85578742 - AC092807.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272692 chr10 75409157 75411842 + AC010997.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272693 chr7 65647010 65770810 - AC073107.1 transcribed_unprocessed_pseudogene 441242 8 38 33 4 30 22 3 18 20 ENSG00000272694 chr22 37371684 37372858 + Z94160.2 antisense 0 0 0 0 0 0 1 2 0 ENSG00000272695 chr13 113864168 113866833 + GAS6-DT lincRNA 100506394 0 0 0 0 0 0 0 0 0 ENSG00000272696 chr9 128316337 128316909 + AL359091.4 antisense 2 4 1 2 2 0 0 0 0 ENSG00000272699 chr3 179405448 179405944 + AC007620.3 antisense 1 2 2 1 7 4 7 3 9 ENSG00000272701 chr7 130486042 130491033 - MESTIT1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000272702 chr2 73113018 73115907 + AC010913.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272703 chr18 11857155 11857554 - AP005137.2 antisense 0 0 1 3 2 3 1 4 0 ENSG00000272707 chr3 194637505 194637664 - AC046143.2 lincRNA 0 1 0 0 0 0 0 0 6 ENSG00000272710 chr3 75540049 75580199 - AC133041.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272711 chr2 74832655 74833987 - AC019069.1 lincRNA 1 0 3 0 5 0 0 4 1 ENSG00000272714 chr6 121389324 121390357 + AL139098.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272715 chr1 116909149 116909531 - AL157904.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272716 chr2 32165046 32165757 - AL121658.1 lincRNA 6 8 3 3 3 8 7 5 3 ENSG00000272717 chr4 139556799 139557643 + AC112236.2 antisense 1 1 3 4 0 4 0 0 0 ENSG00000272719 chr7 5556731 5557245 + AC006483.2 antisense 0 0 6 1 4 0 0 0 0 ENSG00000272720 chr22 38090127 38091559 + AL022322.1 lincRNA 1 0 4 3 2 3 1 0 0 ENSG00000272721 chr3 184134019 184135238 - AC131235.3 antisense 0 1 0 0 1 0 0 2 2 ENSG00000272727 chr4 145335263 145340421 - LINC02266 lincRNA 105377466 0 0 0 0 0 0 0 0 0 ENSG00000272729 chr2 176164164 176165716 - AC009336.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272732 chr7 7550104 7552440 - AC004982.1 lincRNA 2 2 3 1 0 4 8 0 0 ENSG00000272733 chr22 23580880 23583859 - AP000345.2 lincRNA 2 2 6 8 11 2 9 5 7 ENSG00000272734 chr10 86965345 86971311 - ADIRF-AS1 processed_transcript 3 2 1 18 11 13 9 6 12 ENSG00000272735 chr2 71067519 71068125 - AC007881.3 lincRNA 2 1 0 5 5 27 3 2 31 ENSG00000272736 chr17 10383132 10537862 + AC005323.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272741 chr3 196248230 196318222 - AC069257.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272742 chr5 139364677 139369717 - AC135457.1 antisense 1281 1150 1313 344 785 614 473 763 468 ENSG00000272744 chr4 183516894 183517527 + AC107214.2 lincRNA 0 0 0 0 3 0 0 1 0 ENSG00000272745 chr7 7619872 7620543 + AC004948.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000272746 chr18 13526078 13526688 + AP005131.7 sense_intronic 4 10 3 3 0 3 5 2 0 ENSG00000272748 chr10 74821610 74822130 - AC063962.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272750 chr1 222658867 222661512 - AL592148.3 antisense 198 195 204 132 147 198 126 104 119 ENSG00000272752 chr7 100336104 100367831 + STAG3L5P-PVRIG2P-PILRB processed_transcript This locus represents naturally occurring readthrough transcription among the neighboring LOC101735302 (stromal antigen 3 pseudogene), LOC101752334 (poliovirus receptor related immunoglobulin domain containing pseudogene) and PILRB (paired immunoglobin-like type 2 receptor beta) genes on chromosome 7. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013]. 101752399 4 3 5 2 4 12 11 4 4 ENSG00000272754 chr2 32321638 32323002 + AL133245.1 lincRNA 1 1 7 6 4 0 3 5 5 ENSG00000272755 chr1 149264252 149264816 + AC245297.2 lincRNA 1 1 1 1 3 6 2 0 0 ENSG00000272758 chr3 122416207 122443180 + AC083798.2 antisense 627 520 827 457 535 476 409 383 407 ENSG00000272760 chr7 154951226 154952188 + AC093726.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272762 chr3 51961212 51974031 - AC115284.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272763 chr17 48635923 48647023 - AC103702.2 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000272764 chr10 5813985 5814441 + AL596094.1 lincRNA 1 2 0 3 1 3 3 1 1 ENSG00000272767 chr10 63465229 63466563 + JMJD1C-AS1 antisense 84989 18 9 22 2 10 12 16 5 17 ENSG00000272768 chr7 44884953 44886393 + AC004854.2 antisense 201 216 216 316 402 545 295 449 534 ENSG00000272769 chr2 132345616 132347297 - AC097532.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272770 chr17 2683305 2685088 - AC005696.2 antisense 166 152 243 54 75 104 31 57 58 ENSG00000272772 chr5 134167170 134226071 - AC104109.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272774 chr3 72178279 72178810 + AC112219.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272777 chr4 99067256 99068125 - AC019131.2 lincRNA 0 0 1 0 0 0 2 0 1 ENSG00000272779 chr22 22303224 22310401 + AC245060.4 unprocessed_pseudogene 18 42 11 17 39 9 15 46 10 ENSG00000272783 chr4 1550284 1550572 + AC147067.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272784 chr4 183094423 183095056 - AC019193.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272787 chr22 23969211 23969873 + AC253536.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272788 chr18 8801656 8802305 + AP000864.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000272789 chr2 127625997 127626848 - AC010976.2 antisense 0 0 0 0 0 1 0 0 0 ENSG00000272791 chr10 73630556 73631490 + AC073389.3 lincRNA 1 0 0 0 0 0 0 0 4 ENSG00000272795 chr4 109815047 109815410 - AC126283.1 lincRNA 0 0 0 2 0 0 0 3 0 ENSG00000272797 chr3 168927475 168927919 + AC092954.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272798 chr22 25436312 25436915 + AL008721.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000272799 chr18 9912316 9912849 - AC006238.1 lincRNA 3 0 5 2 1 8 1 0 13 ENSG00000272800 chr2 183214319 183215400 + AC021851.1 lincRNA 0 0 0 0 0 4 0 0 0 ENSG00000272801 chr7 27147366 27152598 - AC004080.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272804 chr21 44600597 44602174 + KRTAP10-7 protein_coding 386675 GO:0045095, GO:0005829, keratin filament, cytosol, GO:0042802, GO:0005515, identical protein binding, protein binding, GO:0031424, keratinization, 0 0 0 0 0 0 0 0 0 ENSG00000272807 chr2 210028417 210029156 + AC007038.2 antisense 2 2 3 10 13 5 8 3 5 ENSG00000272808 chr15 100849831 100876836 + AC015712.6 processed_transcript 105369201 0 0 0 0 0 0 0 0 0 ENSG00000272810 chr6 26013241 26013757 + U91328.3 lincRNA 0 0 0 0 0 2 1 3 2 ENSG00000272812 chr8 233119 233692 + AC004908.2 sense_intronic 6 7 14 42 28 73 43 24 27 ENSG00000272814 chr2 46956615 46956888 - AC093732.2 antisense 6 5 9 3 4 11 4 1 1 ENSG00000272815 chr17 16788057 16816540 + AC098850.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272817 chr10 91908131 91909348 + AL359198.1 antisense 0 0 0 7 0 4 0 0 0 ENSG00000272821 chr22 50523926 50524780 + U62317.2 antisense 332 256 516 442 394 427 500 304 362 ENSG00000272822 chr12 48903503 48957365 - AC073610.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272823 chr1 220828676 220829211 - AL445423.1 lincRNA 0 0 0 0 1 0 0 2 0 ENSG00000272824 chr1 148358245 148358686 - AC245100.7 lincRNA 0 3 0 1 2 0 0 1 0 ENSG00000272825 chr21 44936303 44936954 + AL844908.1 antisense 17 14 24 5 3 12 9 12 10 ENSG00000272829 chr22 20981361 20981755 - AC002470.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272831 chr7 66739829 66740385 - AC027644.3 antisense 109 60 105 164 70 176 151 87 136 ENSG00000272832 chr3 133543064 133543466 - AC022296.3 lincRNA 0 1 1 0 2 0 0 0 0 ENSG00000272834 chr22 40415003 40415445 + AL022238.3 antisense 8 6 7 13 27 14 21 18 16 ENSG00000272836 chr22 50205585 50206062 - AL022328.1 antisense 9 6 6 12 12 35 21 22 11 ENSG00000272837 chr12 55646195 55646663 - OR10AE3P unprocessed_pseudogene 8 9 3 2 3 0 8 6 3 ENSG00000272839 chr7 157868538 157869154 + AC011899.3 antisense 10 24 18 17 31 16 21 30 6 ENSG00000272840 chr3 125774714 125797953 + AC092902.3 lincRNA 105374312 0 0 0 0 0 0 0 0 0 ENSG00000272841 chr6 160990318 160992342 - AL139393.2 antisense 6 0 8 11 3 1 3 6 6 ENSG00000272842 chr9 19371386 19371945 - AL391834.1 antisense 6 4 12 12 10 21 11 2 7 ENSG00000272843 chr7 72924418 72925125 - AC211476.2 antisense 1 6 5 2 7 3 1 6 0 ENSG00000272844 chr3 112990447 112991153 - AC074044.1 antisense 1 3 9 0 1 8 4 1 13 ENSG00000272848 chr6 169426420 169452475 - AL135910.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000272849 chr12 121797511 121801972 + AC084018.1 lincRNA 11 23 31 4 6 5 9 5 13 ENSG00000272851 chr2 207753872 207754435 - AC096772.1 antisense 39 57 31 53 27 44 26 28 19 ENSG00000272853 chr10 14877688 14878686 - AC069544.1 lincRNA 0 0 0 4 0 1 0 0 0 ENSG00000272854 chr7 107579557 107580057 - AC004839.1 antisense 0 0 0 0 0 0 1 0 4 ENSG00000272855 chr1 76636877 76637339 + AC104458.1 lincRNA 1 0 1 0 0 0 0 1 0 ENSG00000272856 chr4 87460807 87462280 - AC112250.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272858 chr22 28814914 28815662 + Z93930.3 sense_intronic 0 2 0 0 0 0 0 0 0 ENSG00000272861 chr2 105249404 105249794 - AC012360.2 lincRNA 0 0 1 5 0 0 0 0 0 ENSG00000272862 chr4 41988741 41989237 - AC106052.1 lincRNA 0 0 0 0 1 6 0 1 0 ENSG00000272864 chr1 74698769 74699333 - AC135803.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272865 chr1 242147514 242209129 + AL591686.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272866 chr9 5351796 5352410 - AL135786.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272870 chr4 173363780 173370446 - AC097534.2 antisense 105377540 2 4 5 7 1 6 6 0 1 ENSG00000272871 chr9 14588797 14590065 - AL159169.2 lincRNA 2 0 4 1 3 3 0 2 0 ENSG00000272872 chr22 15823197 15823890 + AP000525.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000272874 chr20 267186 268857 + AL034548.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272880 chr1 181812705 181813261 + AL161734.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272882 chr11 28986635 28987498 + OR2BH1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272884 chr17 7439506 7445966 + AC113189.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272885 chr4 416118 416537 - AC092574.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272886 chr3 53283428 53347610 - DCP1A protein_coding Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 55802 GO:0036464, GO:0016020, GO:0005829, GO:0005737, GO:0005634, GO:0000932, GO:0000932, cytoplasmic ribonucleoprotein granule, membrane, cytosol, cytoplasm, nucleus, P-body, P-body, GO:0042802, GO:0030234, GO:0019894, GO:0016787, GO:0008047, GO:0005515, GO:0003729, identical protein binding, enzyme regulator activity, kinesin binding, hydrolase activity, enzyme activator activity, protein binding, mRNA binding, GO:1903608, GO:0043928, GO:0043488, GO:0043085, GO:0031087, GO:0000290, GO:0000184, protein localization to cytoplasmic stress granule, exonucleolytic catabolism of deadenylated mRNA, regulation of mRNA stability, positive regulation of catalytic activity, deadenylation-independent decapping of nuclear-transcribed mRNA, deadenylation-dependent decapping of nuclear-transcribed mRNA, nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, 790 745 1509 395 485 619 459 379 440 ENSG00000272887 chr15 84401807 84408005 - CSPG4P5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272888 chr15 92882707 92899701 + LINC01578 processed_transcript 1984 2147 2830 1085 1378 1268 1267 1151 1302 ENSG00000272892 chr10 67849525 67850746 + AL133551.1 lincRNA 1 0 1 4 0 1 0 0 0 ENSG00000272894 chr7 7552462 7566996 - AC004982.2 lincRNA 10 5 7 28 8 12 16 6 10 ENSG00000272895 chr2 117998745 117999480 + AC009303.3 antisense 0 1 1 1 5 5 5 1 0 ENSG00000272896 chr9 136791379 136800595 + AL355987.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272897 chr20 35632340 35674544 - AL109827.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272899 chr7 128866308 128872044 + ATP6V1FNB protein_coding 100130705 8 5 6 37 51 78 31 23 28 ENSG00000272900 chr11 58291826 58292765 - OR10Q2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272902 chr2 101151660 101155412 + TBC1D8-AS1 lincRNA 100506286 0 0 0 1 0 0 0 0 0 ENSG00000272904 chr9 38542479 38568422 - AL390726.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272905 chr7 32845394 32846061 + AC018648.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272906 chr1 179881607 179882595 - AL353708.3 lincRNA 65 51 71 51 75 102 73 74 72 ENSG00000272908 chr7 38326070 38329643 - AC006033.2 lincRNA 6 10 10 8 16 23 13 7 27 ENSG00000272909 chr14 64440369 64442238 - AL122035.2 antisense 4 5 7 31 2 17 6 5 20 ENSG00000272910 chr3 179583262 179583762 - AC090425.2 antisense 7 2 10 4 4 10 3 6 6 ENSG00000272911 chr17 2688473 2688960 + AC005696.3 lincRNA 7 3 9 33 32 23 19 23 19 ENSG00000272912 chr10 102914585 102915404 + AL356608.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000272913 chr2 95525109 95526702 - AC009237.14 lincRNA 0 0 1 0 0 0 2 3 0 ENSG00000272914 chr10 30831828 30833387 - AL359532.1 sense_intronic 15 22 7 18 33 17 16 37 24 ENSG00000272915 chr7 128264526 128264889 - AC018635.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000272916 chr10 73796514 73811651 - AC022400.6 protein_coding 83 64 55 150 165 126 152 123 96 ENSG00000272917 chr12 9642872 9657070 + AC010186.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272918 chr7 105102838 105105483 - AC005070.3 antisense 140 175 197 89 147 156 72 63 112 ENSG00000272920 chr17 2748078 2748182 + hsa-mir-1253 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272921 chr12 4604944 4662643 + AC005832.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272922 chr3 184742818 184743284 + AC107294.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272923 chr16 81385463 81387560 + AC092139.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272927 chr4 661209 661945 - AC107464.3 antisense 1 0 1 3 0 0 0 2 1 ENSG00000272931 chr1 89820174 89820868 - AC099568.2 lincRNA 0 2 6 0 0 0 0 0 0 ENSG00000272933 chr10 102642792 102644140 - AL391121.1 lincRNA 260 291 264 107 203 167 132 181 161 ENSG00000272934 chr9 38542389 38543215 - AL390726.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000272936 chr4 44704405 44704965 + AC096586.1 antisense 2 0 0 0 1 0 3 0 0 ENSG00000272937 chr12 55608043 55615878 + OR6U2P transcribed_unprocessed_pseudogene 0 0 0 5 0 0 0 0 0 ENSG00000272940 chr22 50597152 50597599 + U62317.3 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000272941 chr7 135168403 135169547 + AC083862.2 antisense 416 545 465 320 469 317 500 447 286 ENSG00000272942 chr22 25434324 25435070 - AL022324.3 lincRNA 0 0 1 0 0 1 0 0 0 ENSG00000272944 chr2 221572506 221574454 + AC079834.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272945 chr20 34281632 34286466 - AL356299.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000272948 chr21 37267784 37268497 + AP001412.1 antisense 1 0 1 0 1 5 1 0 8 ENSG00000272949 chr7 102483344 102543764 - AC093668.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000272950 chr7 98322853 98323430 + AC093799.1 antisense 0 1 0 1 0 2 2 0 0 ENSG00000272953 chr7 5425770 5426401 + AC092171.4 lincRNA 16 18 17 6 8 4 10 5 5 ENSG00000272954 chr22 21661934 21662363 + AP000553.2 sense_intronic 0 0 0 0 0 2 2 0 1 ENSG00000272958 chr21 34425508 34426017 + AP000322.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272963 chr12 46592573 46593305 + OR7A19P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000272966 chr2 202336739 202337200 + AC064836.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272967 chr3 119579212 119579650 - AC073352.2 antisense 0 0 0 3 0 8 0 0 0 ENSG00000272968 chr7 4983718 5073221 + RBAK-RBAKDN protein_coding This locus represents naturally occurring read-through transcription between the neighboring RBAK (RB-associated KRAB zinc finger) and LOC389458 (hypothetical LOC389458) genes on chromosome 7. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011]. 100533952 0 0 0 0 0 0 0 0 0 ENSG00000272969 chr4 55547112 55547889 + AC024243.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272970 chr3 184734075 184738949 + AC107294.2 lincRNA 107986163 0 0 0 0 1 0 0 0 0 ENSG00000272971 chr1 156614742 156615288 - AL365181.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272973 chr22 23856427 23857039 - AP000350.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272975 chr17 10383144 10623886 + MYHAS antisense 0 0 0 0 0 0 0 0 0 ENSG00000272977 chr22 25476218 25479971 + AL008721.2 sense_intronic 9 6 19 11 5 12 5 12 19 ENSG00000272979 chr2 190454092 190454521 - AC093388.1 antisense 0 0 0 0 0 0 3 0 0 ENSG00000272980 chr6 166999405 167139141 + Z94721.2 processed_transcript 5 2 3 0 9 1 0 1 0 ENSG00000272982 chr1 111181374 111181491 - AL355816.1 antisense 0 1 4 8 0 6 8 2 5 ENSG00000272983 chr10 38137337 38144399 + AL117339.4 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000272984 chr7 36734004 36734535 - AC007349.4 lincRNA 0 0 0 0 0 0 0 2 0 ENSG00000272986 chr4 70703747 70704491 - AC009570.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000272987 chr11 56412696 56413680 + OR5AL1 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 79482 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000272988 chr10 72053294 72054037 - AC022392.1 lincRNA 0 0 0 3 0 3 0 0 0 ENSG00000272989 chr3 197505262 197506986 - LINC02012 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000272990 chr3 156523740 156524247 - AC084036.1 antisense 0 0 1 0 0 0 6 0 2 ENSG00000272991 chr21 39184469 39184899 + AF129408.1 antisense 3 7 4 15 12 6 7 6 10 ENSG00000272994 chr2 105334027 105337475 - AC012360.3 lincRNA 21 6 12 54 13 29 24 4 14 ENSG00000272995 chr4 20766808 20767372 + AC097505.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273000 chr22 23652860 23717347 - AP000347.2 processed_transcript 0 1 5 3 1 6 0 4 1 ENSG00000273001 chr10 3065424 3066001 - AL731533.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273002 chr1 155978799 155982986 + AL355388.2 antisense 107985209 10 7 23 9 1 6 9 4 6 ENSG00000273003 chr11 65014182 65040570 + ARL2-SNX15 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273004 chr1 185317779 185318530 + AL078644.1 lincRNA 6 21 11 68 95 132 95 100 132 ENSG00000273006 chr2 38193348 38193629 + AC009229.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273007 chr4 122881878 122884712 - AC021205.3 antisense 0 0 0 2 0 1 0 0 0 ENSG00000273008 chr10 43136824 43138334 - AC010864.1 lincRNA 0 1 5 13 4 19 18 5 3 ENSG00000273010 chr1 110963302 110964649 + AL360270.3 antisense 101 73 97 140 162 164 149 112 117 ENSG00000273011 chr7 149890739 149891416 + AC092681.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273012 chr10 33341655 33341905 + AL353600.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273013 chr3 196474801 196475394 + AC117490.2 antisense 5 9 17 9 10 0 4 5 5 ENSG00000273014 chr7 32758882 32759353 + AC018645.2 lincRNA 0 0 4 0 0 0 1 0 0 ENSG00000273015 chr12 45718046 45727775 - AC008124.1 lincRNA 55 92 157 97 30 163 89 56 82 ENSG00000273017 chr21 29359002 29359453 + AP000240.1 sense_intronic 32 27 23 88 89 99 59 38 35 ENSG00000273018 chr17 18511221 18551705 - FAM106A processed_transcript 80039 51 25 25 53 24 23 70 16 34 ENSG00000273024 chr7 65647823 65718688 + INTS4P2 transcribed_unprocessed_pseudogene 0 1 0 2 0 4 0 2 0 ENSG00000273025 chr15 72266746 72319946 - AC009690.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273026 chr1 153966516 153966930 + AL358472.3 antisense 2 1 6 1 7 12 7 3 9 ENSG00000273027 chr21 44929653 44930112 - AL844908.2 sense_intronic 0 0 1 3 1 0 0 1 0 ENSG00000273032 chr22 18970525 19031242 + DGCR9 processed_transcript 26220 34 103 26 128 187 90 136 93 66 ENSG00000273033 chr3 122886941 122892416 + LINC02035 lincRNA 100129550 570 556 705 309 601 630 455 413 525 ENSG00000273035 chr2 39323328 39323804 - AC007684.1 sense_intronic 0 2 0 0 0 0 0 3 0 ENSG00000273036 chr9 38540567 38542792 - AL390726.5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273038 chr10 32887255 32889311 - AL365203.2 lincRNA 3 4 3 10 4 9 7 10 15 ENSG00000273041 chrX 154580926 154581998 + ATF4P2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000273044 chr22 35526932 35527415 + AL022334.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273045 chr2 99141485 99151487 + C2orf15 protein_coding 150590 GO:0005515, GO:0003723, protein binding, RNA binding, 4 2 1 33 16 33 29 17 26 ENSG00000273046 chr12 54017110 54035361 + HOXC5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273047 chr20 63738270 63740398 + AL121845.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273049 chr12 53985845 54034888 + AC012531.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273051 chr11 4752046 4752944 - OR51F4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273055 chr7 107942116 107942740 + AC005046.1 antisense 10 5 3 1 14 12 10 9 4 ENSG00000273056 chr9 7786105 7786688 - AL354694.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273058 chr1 236536162 236536704 - AL359921.2 antisense 0 4 2 3 4 0 0 6 4 ENSG00000273059 chr1 148011799 148012228 + AC239803.2 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000273061 chr9 4676600 4679502 - CDC37L1-DT lincRNA 101929351 0 0 1 2 5 13 3 2 0 ENSG00000273062 chr1 178724306 178726285 - AL449106.1 antisense 21 18 49 12 15 26 16 16 6 ENSG00000273063 chr2 58241349 58241686 + AC007250.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273064 chr2 68252870 68253848 + AC017083.1 antisense 2 0 5 18 41 55 21 14 25 ENSG00000273066 chr9 136799223 136810042 + AL355987.4 processed_transcript 2 3 5 13 8 4 12 0 12 ENSG00000273068 chr22 35122661 35127419 + Z99755.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273069 chr7 74606913 74607299 + AC211433.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273073 chr2 131461821 131463615 - AC073869.3 lincRNA 1 0 0 0 0 1 0 0 0 ENSG00000273076 chr22 38743495 38743910 + AL021707.7 antisense 23 35 39 45 47 43 52 28 44 ENSG00000273077 chr4 128552590 128553416 - AC110609.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273079 chr12 13437942 13981957 - GRIN2B protein_coding This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]. 2904 GO:0098839, GO:0097060, GO:0045211, GO:0043005, GO:0017146, GO:0017146, GO:0017146, GO:0014069, GO:0009986, GO:0005887, GO:0005886, GO:0005886, GO:0005886, GO:0005886, GO:0005856, GO:0005770, GO:0005764, GO:0005737, postsynaptic density membrane, synaptic membrane, postsynaptic membrane, neuron projection, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, NMDA selective glutamate receptor complex, postsynaptic density, cell surface, integral component of plasma membrane, plasma membrane, plasma membrane, plasma membrane, plasma membrane, cytoskeleton, late endosome, lysosome, cytoplasm, GO:0038023, GO:0022849, GO:0022849, GO:0016595, GO:0016594, GO:0015276, GO:0008270, GO:0005515, GO:0004972, GO:0004972, GO:0004972, GO:0004972, GO:0001540, signaling receptor activity, glutamate-gated calcium ion channel activity, glutamate-gated calcium ion channel activity, glutamate binding, glycine binding, ligand-gated ion channel activity, zinc ion binding, protein binding, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, NMDA glutamate receptor activity, amyloid-beta binding, GO:2001056, GO:2000310, GO:1902951, GO:1901216, GO:0098976, GO:0097553, GO:0097553, GO:0060291, GO:0060079, GO:0051290, GO:0048167, GO:0048013, GO:0045471, GO:0035235, GO:0019722, GO:0007611, GO:0007420, GO:0007275, GO:0007268, GO:0007215, GO:0000165, positive regulation of cysteine-type endopeptidase activity, regulation of NMDA receptor activity, negative regulation of dendritic spine maintenance, positive regulation of neuron death, excitatory chemical synaptic transmission, calcium ion transmembrane import into cytosol, calcium ion transmembrane import into cytosol, long-term synaptic potentiation, excitatory postsynaptic potential, protein heterotetramerization, regulation of synaptic plasticity, ephrin receptor signaling pathway, response to ethanol, ionotropic glutamate receptor signaling pathway, calcium-mediated signaling, learning or memory, brain development, multicellular organism development, chemical synaptic transmission, glutamate receptor signaling pathway, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000273080 chr2 86195590 86196049 + AC009309.1 antisense 0 0 1 2 0 0 0 0 0 ENSG00000273082 chr22 33922422 33922766 + Z73429.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273084 chr7 5428731 5429672 + AC092171.5 lincRNA 5 1 2 1 8 4 2 0 2 ENSG00000273085 chr11 5069572 5070497 + OR52E1 polymorphic_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]. 79296 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000273088 chr1 155169409 155187272 - AL713999.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273090 chr2 36513255 36513732 - AC007378.1 antisense 0 3 2 5 3 5 0 6 1 ENSG00000273091 chr21 31735732 31736407 + AP000255.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273093 chr1 200315435 200315967 - AC097065.2 lincRNA 0 0 0 0 0 0 0 0 4 ENSG00000273096 chr22 38736610 38736792 - AL021707.8 sense_intronic 15 24 28 63 94 116 61 48 93 ENSG00000273098 chr17 13095728 13100939 + AC005303.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273100 chr6 170178681 170179660 + AL596442.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273102 chr21 33967101 33968573 - AP000569.1 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000273104 chr21 34412200 34412587 + AP000322.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273106 chr2 44167625 44168859 - AC019129.2 antisense 0 0 2 0 3 8 3 1 2 ENSG00000273107 chr10 24953241 24953513 + AL512598.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273108 chr10 103608619 103610050 + AL121929.2 antisense 1 0 0 1 0 3 1 0 3 ENSG00000273110 chr1 154480012 154481501 + AL162591.2 antisense 15 20 10 20 11 7 20 19 13 ENSG00000273111 chr19 41837074 41844697 - LYPD4 protein_coding 147719 GO:0046658, GO:0044853, GO:0005886, GO:0005576, anchored component of plasma membrane, plasma membrane raft, plasma membrane, extracellular region, 12 11 3 25 14 7 19 16 12 ENSG00000273112 chr1 161513176 161605099 + AL590385.2 processed_transcript 40 57 79 27 53 58 30 30 43 ENSG00000273113 chr2 241581922 241582726 + AC133528.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273115 chr21 26459903 26460214 - AP001596.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273117 chr7 155295918 155297541 - AC144652.1 lincRNA 9 9 9 24 34 40 38 36 22 ENSG00000273118 chr2 212581357 213021545 - AC093865.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000273119 chr18 11390033 11390729 - AP005229.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273123 chr3 123715851 123716399 + AC020634.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273124 chr10 90997480 90997713 - AL365434.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273125 chr3 107430930 107463912 + LINC01990 lincRNA 101929607 0 0 0 0 0 0 0 0 0 ENSG00000273129 chr1 186680622 186681446 + PACERR lincRNA This gene represents transcription of a long non-coding RNA produced in antisense to the prostaglandin-endoperoxide synthase 2 (PTGS2) gene. This transcript interacts with NF-kB transcriptional regulators to promote expression of PTGS2. [provided by RefSeq, Feb 2015]. 103752588 33 22 18 25 51 96 29 64 70 ENSG00000273132 chr6 149852462 149853192 + AL355312.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273133 chr4 15563698 15564253 - AC116651.1 antisense 27 14 11 17 13 15 23 24 11 ENSG00000273136 chr1 120723923 120841481 + NBPF26 protein_coding 101060684 GO:0005737, cytoplasm, 1031 561 909 471 637 790 690 377 651 ENSG00000273137 chr22 50208461 50209542 - AL022328.2 antisense 56 64 64 55 82 108 76 62 66 ENSG00000273138 chr7 95416108 95416462 + AC005021.1 antisense 0 0 1 0 1 0 2 0 0 ENSG00000273139 chr22 20320739 20321203 + AC007663.3 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000273141 chr18 11908712 11909223 + AP001269.4 antisense 29 32 28 8 13 16 15 30 9 ENSG00000273142 chr7 66902857 66906297 + AC073335.2 lincRNA 69 26 44 71 35 73 78 37 34 ENSG00000273143 chr10 110428840 110496204 - AL355512.1 lincRNA 0 0 0 4 1 0 0 0 0 ENSG00000273145 chr22 46013606 46015498 + BX537318.1 lincRNA 2 2 6 0 1 7 3 3 3 ENSG00000273148 chr20 18794529 18796067 + AL035563.1 lincRNA 11 16 12 20 44 31 29 11 38 ENSG00000273149 chr13 45340039 45341183 + AL138963.3 antisense 8081 8000 11473 11617 11836 12584 9989 9688 9610 ENSG00000273151 chr7 879790 886547 - AC073957.3 antisense 209 173 206 433 383 395 558 298 337 ENSG00000273153 chr10 17137336 17137585 - AC067747.1 lincRNA 1 0 0 2 2 0 2 2 0 ENSG00000273154 chr20 63708864 63739103 + AL121845.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273155 chr2 99154998 99195298 + AC092587.1 protein_coding 0 0 1 0 0 0 0 0 0 ENSG00000273156 chr4 82344876 82345540 - AC124016.2 lincRNA 5 0 4 4 3 8 3 2 0 ENSG00000273160 chr1 167457742 167459891 - AL359962.2 lincRNA 1 2 4 0 1 3 0 0 0 ENSG00000273162 chr10 101060029 101061005 - AL133215.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273164 chr22 19023056 19023550 + DGCR10 sense_intronic 3 5 3 17 24 4 13 9 3 ENSG00000273165 chr2 31852976 31853423 - AL121652.1 lincRNA 1 3 1 0 1 5 3 0 3 ENSG00000273167 chr13 23979700 24321031 + AL359736.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273171 chr17 28364288 28368012 - AC002094.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273172 chr17 183824 191587 - LINC02091 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273173 chr15 24954986 24977850 + SNURF protein_coding This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]. 8926 GO:0016607, GO:0016607, GO:0005634, nuclear speck, nuclear speck, nucleus, GO:0003674, molecular_function, GO:0008150, biological_process, 0 1 0 3 0 7 0 0 0 ENSG00000273174 chr3 129123439 129124003 + AC108673.2 antisense 132 127 143 89 127 162 117 108 126 ENSG00000273175 chr1 244864738 244865272 + BX323046.1 lincRNA 0 2 3 2 5 7 4 2 2 ENSG00000273176 chr22 35298838 35299541 - AL008635.1 antisense 0 0 1 7 6 0 6 1 8 ENSG00000273177 chr3 168928169 168928598 + AC092954.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273179 chr4 1167778 1168174 + AC092535.4 antisense 1 0 6 5 2 0 0 0 0 ENSG00000273180 chr4 183075480 183076033 - AC019193.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273181 chr3 184132942 184133561 - AC131235.4 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000273183 chr7 154956429 154957107 + AC093726.2 antisense 3 5 0 0 3 10 2 1 7 ENSG00000273184 chr7 128455840 128493859 + AC010655.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273186 chr9 128431598 128432006 + AL359091.5 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273188 chr22 50191724 50192402 - AL022328.3 antisense 27 43 37 17 51 34 30 21 24 ENSG00000273189 chr19 49474586 49487637 + AC010619.2 processed_transcript 1 0 1 1 0 0 3 2 0 ENSG00000273192 chr22 49902228 49904576 + AL671710.1 lincRNA 57 83 90 71 86 93 42 67 98 ENSG00000273196 chr2 85387074 85387146 - AC062037.2 antisense 3 0 5 3 7 2 10 0 6 ENSG00000273198 chr1 186521773 186522304 + AL096803.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273199 chr21 36319792 36320670 - AP000692.2 antisense 27 34 37 13 23 34 13 21 12 ENSG00000273203 chr22 17067821 17070675 + AC006946.2 lincRNA 0 0 2 1 0 4 0 0 0 ENSG00000273204 chr1 100894928 100895356 + AC104506.1 antisense 0 0 0 0 1 1 1 1 8 ENSG00000273209 chr2 202032770 202033537 - AC069148.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273210 chr21 37365477 37365932 - AP001437.1 antisense 5 7 9 72 103 78 82 68 83 ENSG00000273211 chr3 48985485 48985963 - AC137630.4 lincRNA 1 0 2 0 0 2 0 1 0 ENSG00000273212 chr22 19456503 19456962 + AC000068.2 antisense 129 121 168 96 120 101 107 101 101 ENSG00000273213 chr1 143894544 143905964 - AC239798.4 processed_transcript Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is a member of the H3 family, but is found outside of the histone cluster. There is evidence that it is transcribed and has an intact CDS, but residue changes in the protein suggest that it may be on its way to becoming a psuedogene. [provided by RefSeq, Aug 2019]. 440686 0 0 0 0 0 0 0 0 0 ENSG00000273214 chr22 38043230 38043920 + AL031587.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273216 chr22 29316744 29317220 - AC002059.1 sense_intronic 0 0 0 0 1 0 0 0 1 ENSG00000273217 chr5 131425891 131796983 - AC008695.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273218 chr19 15346068 15348417 - AC005776.2 lincRNA 17 25 18 34 23 27 22 10 30 ENSG00000273219 chr7 135704537 135704841 + AC091736.1 antisense 2 3 3 0 0 1 1 2 4 ENSG00000273221 chr1 111184415 111185061 - AL355816.2 antisense 23 34 32 41 74 76 48 71 36 ENSG00000273225 chr10 46369113 46373563 + FAM25BP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273226 chr9 19375451 19375996 + AL391834.2 antisense 5 1 0 4 7 2 1 4 2 ENSG00000273228 chr11 57029408 57029722 + OR5BQ1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273230 chr7 1464497 1467522 - AC102953.2 lincRNA 4 4 3 15 24 9 34 20 17 ENSG00000273232 chr18 22882825 22883357 - AC090912.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273233 chr2 28810281 28810706 - AC097724.1 lincRNA 0 1 0 4 5 0 0 2 0 ENSG00000273234 chr7 144142009 144142938 + OR2A13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273238 chr4 573880 576300 - TMEM271 protein_coding 112441426 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000273240 chr2 189763859 189764456 - AC013468.1 antisense 0 2 1 1 0 0 0 0 0 ENSG00000273243 chr22 45155539 45156011 - Z82243.1 lincRNA 19 30 23 11 27 14 20 15 11 ENSG00000273244 chr22 16676016 16694648 - AC005301.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273245 chr2 73750256 73750786 - AC092653.1 lincRNA 6 7 2 3 5 4 5 5 5 ENSG00000273247 chr4 139411927 139454034 - AC097376.2 antisense 138 95 115 63 84 75 85 75 75 ENSG00000273248 chr10 75408973 75409326 - AC010997.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273249 chr9 134132242 134135772 - BX649632.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000273252 chr7 6835420 6835794 - OR7E39P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273253 chr22 50199090 50200837 - AL022328.4 antisense 134 159 198 86 156 131 106 153 130 ENSG00000273254 chr21 29024255 29024890 - AF129075.2 antisense 53 41 51 32 22 59 53 25 42 ENSG00000273255 chr11 57055587 57056132 + OR5BP1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273257 chr4 55387949 55388271 + AC069200.1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000273258 chr2 174011856 174012975 - AC016737.2 lincRNA 0 0 0 0 0 5 1 1 0 ENSG00000273259 chr14 94592058 94624646 + AL049839.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273261 chr3 182921240 182921938 - AC092953.2 antisense 45 46 87 36 45 62 29 32 45 ENSG00000273262 chr10 102483039 102483559 + AL121928.1 antisense 95 79 112 28 58 67 29 45 33 ENSG00000273264 chr1 85467295 85467660 + AL360219.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273265 chr2 96812239 96813657 - CNNM3-DT lincRNA 100506036 4 5 5 3 4 2 1 5 16 ENSG00000273267 chr4 8022665 8023126 + AC097381.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273269 chr2 47065941 47176511 - AC073283.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273270 chr7 128524016 128531069 - AC090114.2 lincRNA 35 25 67 63 50 77 43 32 46 ENSG00000273271 chr21 31666728 31667247 - AP000254.1 antisense 4 1 6 20 17 20 17 6 9 ENSG00000273272 chr22 50542650 50543011 + U62317.4 lincRNA 116 233 193 123 229 263 130 212 189 ENSG00000273274 chr1 32465069 32496686 + ZBTB8B protein_coding 728116 GO:0005634, GO:0000785, nucleus, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000977, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000273275 chr2 68179833 68180532 + AC017083.2 antisense 831 790 951 372 701 608 501 520 516 ENSG00000273284 chr18 9259388 9260390 + AP001033.2 sense_intronic 86 112 107 108 195 136 141 118 140 ENSG00000273287 chr22 45262273 45263585 - AL008718.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273289 chr22 46053093 46053560 + AL121672.3 antisense 0 1 0 0 0 5 0 0 3 ENSG00000273291 chr3 42809446 43055871 + AC092042.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273293 chr7 149881359 149881580 - AC093458.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273294 chr5 33987174 34124528 - C1QTNF3-AMACR protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273295 chr22 23901432 23907068 - AP000350.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273297 chr7 134416290 134432453 - AC009275.1 lincRNA 105375519 0 0 0 2 0 0 0 0 0 ENSG00000273299 chr7 90403434 90513391 + AC006153.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273300 chr22 19454179 19454605 + AC000068.3 antisense 60 48 81 30 49 45 20 24 30 ENSG00000273301 chr2 225698514 225703654 + AC016717.2 lincRNA 0 0 1 0 0 0 1 0 0 ENSG00000273302 chr2 61199979 61200769 + AC016747.3 sense_intronic 12 16 8 10 19 13 7 2 12 ENSG00000273305 chr2 95537969 95538469 + AC009237.15 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273306 chr2 99405218 99405843 + AC018690.1 antisense 1 5 5 5 1 4 5 0 3 ENSG00000273308 chr3 197645669 197646017 + AC024560.3 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000273311 chr22 19046162 19048375 - DGCR11 sense_intronic 25786 79 94 122 112 120 159 85 102 152 ENSG00000273312 chr10 35604485 35608153 - AL121749.1 antisense 1 0 0 1 10 11 7 2 0 ENSG00000273313 chr7 5072125 5073223 + RBAKDN lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273314 chr7 148696467 148698664 - AC005229.4 antisense 1 1 4 6 8 3 0 1 1 ENSG00000273319 chr7 130936464 130939661 + AC058791.1 lincRNA 8 9 10 24 44 48 21 16 57 ENSG00000273320 chr7 106285480 106286326 + AC007032.1 antisense 900 818 961 1678 1526 2153 2025 1576 1892 ENSG00000273321 chr18 24402153 24402714 + AC023983.2 lincRNA 0 0 0 4 2 7 5 6 6 ENSG00000273325 chr22 32284683 32285131 + AL008723.3 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000273327 chr10 133430394 133431318 - OR6L2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273328 chr3 42809414 42908105 + AC099329.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273329 chr7 129604548 129611630 - AC078846.1 lincRNA 24 15 20 19 26 29 27 22 43 ENSG00000273330 chr19 15871667 15871852 - CYP4F36P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273331 chr3 196316082 196338373 - TM4SF19-TCTEX1D2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273333 chr6 32184733 32185882 - AL662884.1 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000273335 chr18 9473421 9474006 - AP005432.2 lincRNA 0 3 2 0 0 0 0 1 0 ENSG00000273336 chr10 133481238 133481770 + OR7M1P unprocessed_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000273338 chr1 78004346 78004554 - AC103591.3 antisense 0 0 1 3 3 0 0 1 2 ENSG00000273340 chr6 29741731 29748969 - MICE transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273341 chr7 77416673 77425443 + AC004921.1 lincRNA 1 4 0 2 4 16 9 5 2 ENSG00000273342 chr22 21640844 21641284 + AP000553.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273343 chr22 20318119 20318749 - AC007663.4 sense_intronic 1 3 1 3 2 5 0 2 0 ENSG00000273344 chr7 155003448 155005703 + PAXIP1-AS1 lincRNA 202781 10 14 30 10 17 11 14 17 22 ENSG00000273345 chr5 134205614 134371044 - AC104109.4 processed_transcript 10 12 2 18 42 33 27 35 20 ENSG00000273348 chr18 22347846 22348252 - AC027449.1 lincRNA 2 0 0 0 0 0 2 1 0 ENSG00000273350 chr22 30420512 30420912 + AC004832.5 sense_intronic 0 0 0 0 0 8 6 1 8 ENSG00000273353 chr22 45178990 45179310 + AL008718.3 sense_intronic 12 9 8 5 5 7 2 0 3 ENSG00000273355 chr18 813274 813756 + AP000894.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273356 chr3 50669989 50672048 + LINC02019 lincRNA 51 92 64 141 149 121 106 100 136 ENSG00000273360 chr10 66079243 66118326 + AC022017.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273361 chr2 218398743 218399219 - AC021016.3 antisense 53 56 127 35 48 54 35 40 30 ENSG00000273362 chr22 16521059 16527237 + AP000547.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273363 chr10 44958917 44959458 - AL353801.3 sense_intronic 3 0 1 1 0 0 2 0 0 ENSG00000273365 chr1 165706556 165707284 - AL451074.6 lincRNA 1 3 0 1 0 0 0 2 12 ENSG00000273366 chr22 42278188 42278846 + Z83851.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273367 chr1 234372186 234372811 + AL355472.4 antisense 0 0 0 2 1 0 0 0 0 ENSG00000273368 chr18 8154558 8155070 + AC006566.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273369 chr4 44693946 44694386 - AC096586.2 antisense 2 5 7 1 0 1 6 1 0 ENSG00000273370 chr3 190659216 190659750 + AC108747.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273372 chr10 79968213 79973213 + SFTPD-AS1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000273373 chr1 110370154 110373003 + AL355488.1 antisense 7 21 25 22 40 41 31 22 27 ENSG00000273374 chr3 99802699 99806058 - AC069222.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273375 chr3 197789700 197790369 + AC055764.2 lincRNA 0 0 0 1 1 0 2 2 0 ENSG00000273377 chr7 143980905 143981820 + OR2Q1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273381 chr9 91206175 91210299 - AL158071.4 lincRNA 0 0 1 2 1 2 0 0 0 ENSG00000273382 chr1 109087971 109090858 - AL356488.3 antisense 272 241 338 36 112 77 74 106 105 ENSG00000273384 chr1 178651706 178652282 + AL137796.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273387 chr22 31082156 31083565 - AC005005.3 antisense 2 0 2 1 0 0 0 0 0 ENSG00000273388 chr17 10291820 10317926 + AC005291.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273391 chr7 139359032 139359566 - AC083880.1 antisense 0 1 1 5 10 11 11 2 13 ENSG00000273394 chr3 113947005 113947570 - AC128687.2 antisense 3 4 9 11 6 14 15 10 11 ENSG00000273396 chr4 4844437 4850827 + LINC01396 lincRNA 103695434 0 0 0 0 0 0 0 0 0 ENSG00000273398 chr2 68131238 68261230 - AC017083.3 protein_coding 11 3 12 26 31 47 24 17 20 ENSG00000273399 chr9 14586766 14587326 - AL159169.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273402 chr8 237045 237669 + AC004908.3 antisense 2 1 2 0 1 10 3 1 2 ENSG00000273403 chr3 184741937 184742462 + AC107294.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273406 chr1 120076616 120077091 + AC245008.1 lincRNA 1 1 0 0 0 0 0 0 0 ENSG00000273407 chr7 99766543 99766892 + AC069294.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273408 chr11 58387583 58388486 - OR5B15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273409 chr11 127271029 127337033 + AP003481.1 lincRNA 101929497 0 0 0 0 0 0 0 0 0 ENSG00000273413 chr10 86970237 86970826 - AL136982.7 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273415 chr11 128096042 128183554 + AP000904.1 lincRNA 0 0 2 0 0 1 1 0 4 ENSG00000273416 chr1 235104180 235104609 - AL732292.2 lincRNA 0 0 0 0 0 5 1 3 0 ENSG00000273419 chr7 149858400 149862492 - AC004877.1 antisense 44 21 61 59 56 93 76 31 55 ENSG00000273420 chr19 33207129 33207639 + AC008738.7 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000273423 chr9 104629754 104631017 + OR13I1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273424 chr22 41430934 41431375 + AL008582.1 lincRNA 1 4 6 1 4 16 2 2 1 ENSG00000273428 chr22 30435544 30436247 + AC004832.6 lincRNA 0 0 0 13 2 20 4 0 6 ENSG00000273432 chr7 43951910 44019151 - AC004951.4 processed_transcript 1 0 0 8 8 5 4 5 3 ENSG00000273433 chr7 27128969 27152561 - AC004080.6 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273434 chr12 48417150 48417337 - OR8S21P unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000273437 chr3 129163606 129163940 - AC108673.3 lincRNA 3 5 4 9 11 7 5 10 8 ENSG00000273442 chr22 17080701 17081456 + AC006946.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273443 chr1 1062208 1063288 - AL645608.8 lincRNA 0 0 2 4 0 2 8 0 0 ENSG00000273444 chr7 40107288 40107454 + AC006023.2 unprocessed_pseudogene 0 0 0 5 0 0 0 0 0 ENSG00000273445 chr2 87477495 87478034 - AC133644.2 antisense 18 0 10 12 0 11 8 0 11 ENSG00000273447 chr4 109692004 109692703 + AC004067.1 antisense 4 1 1 0 0 3 2 0 0 ENSG00000273448 chr7 67333047 67334383 + AC006480.2 lincRNA 6 12 22 11 14 19 5 6 7 ENSG00000273449 chr4 163529771 163530697 + AC093788.1 lincRNA 0 0 2 1 1 2 2 0 0 ENSG00000273450 chr10 94314907 94315327 - AL139124.1 antisense 0 0 0 0 0 0 5 0 0 ENSG00000273451 chr20 47348137 47349142 - AL031666.3 sense_intronic 2 0 0 0 0 0 4 0 0 ENSG00000273454 chr3 123277353 123277904 + AC112503.2 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000273455 chr3 136087475 136087913 - AC072039.2 antisense 3 2 0 4 4 4 0 2 0 ENSG00000273456 chr2 202374932 202375604 - AC064836.3 lincRNA 0 0 2 3 0 0 0 1 4 ENSG00000273461 chr3 72061061 72069933 + AC105265.3 lincRNA 49 42 30 11 45 37 33 20 13 ENSG00000273464 chr21 29657406 29657831 + AP000238.1 antisense 4 7 0 2 5 6 5 4 3 ENSG00000273466 chr2 218633256 218634014 - AC012510.1 antisense 9 11 9 10 31 4 12 11 19 ENSG00000273471 chr2 110386411 110433673 - AC112229.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273472 chr4 140756528 140757921 + AC096733.2 lincRNA 2 2 0 0 4 4 7 1 0 ENSG00000273473 chr9 134168769 134169340 + BX649601.1 lincRNA 1 0 0 0 0 5 0 0 0 ENSG00000273474 chr10 13675646 13675990 + AL157392.4 antisense 3 0 0 2 2 0 0 1 0 ENSG00000273476 chr10 100967688 100968135 + AL133215.3 lincRNA 1 0 0 0 0 0 3 0 5 ENSG00000273481 chr1 151327949 151328429 + AL391069.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273483 chr1 112517799 112518441 - AL354760.1 antisense 0 0 0 0 0 0 0 0 4 ENSG00000273484 chr8 21797460 21797759 + OR6R2P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273485 chr10 103450196 103450852 + AL139339.2 antisense 0 2 4 5 6 12 6 3 14 ENSG00000273486 chr3 136837338 136839021 - AC096992.2 antisense 7 6 4 10 1 10 1 6 6 ENSG00000273487 chr1 92189237 92190707 + AC104836.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273489 chr7 131493964 131497694 - AC008264.2 antisense 506 479 523 306 542 439 378 324 305 ENSG00000273492 chr21 26170871 26217381 + AP000229.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273493 chr3 58329965 58330118 + AC098479.1 lincRNA 1 0 1 0 0 3 0 0 0 ENSG00000273497 chr10 91896704 91896897 + AL359198.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273499 chr12 108778144 108778271 - RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000273500 chr17 49288346 49288454 - MIR6129 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465137 1 0 0 0 0 0 0 1 0 ENSG00000273507 chr13 39053072 39221927 + AL354809.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273509 chr9 62924911 62934964 + CNTNAP3P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273512 chr15 78749833 78750107 - AC022748.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273513 chr17 37924415 37935365 + TBC1D3K protein_coding 101060351 GO:0005886, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000273514 chr9 41126430 41128463 - FOXD4L6 protein_coding 653404 GO:0000785, GO:0000785, chromatin, chromatin, GO:0043565, GO:0005515, GO:0000981, GO:0000981, GO:0000978, sequence-specific DNA binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030154, GO:0009653, GO:0006357, cell differentiation, anatomical structure morphogenesis, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000273515 chr2 103953098 103953284 - RF02091 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273516 chr1 121008362 121008507 - RF00003 snRNA 0 0 2 0 0 0 0 0 0 ENSG00000273520 chr7 73020338 73029766 - SPDYE8P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273521 chr10 131980240 131981337 + AL162274.1 antisense 1 1 4 6 0 6 1 3 5 ENSG00000273523 chr13 52128891 52132723 + AL139082.1 antisense 101929657 0 1 0 0 0 0 0 0 0 ENSG00000273524 chr18 24179038 24179295 - RF00017 misc_RNA 0 0 0 1 0 3 0 0 0 ENSG00000273536 chr12 56840973 56841273 - AC121758.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273537 chr2 144520456 144520555 + RF01986 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273540 chr15 86079973 87029052 + AGBL1 protein_coding Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]. 123624 GO:0005829, cytosol, GO:0015631, GO:0008270, GO:0004181, tubulin binding, zinc ion binding, metallocarboxypeptidase activity, GO:0035610, GO:0035610, GO:0035609, GO:0035609, GO:0006508, protein side chain deglutamylation, protein side chain deglutamylation, C-terminal protein deglutamylation, C-terminal protein deglutamylation, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000273541 chr13 50104833 50105174 + RF02104 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273542 chr6 27831216 27831527 - HIST1H4K protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8362 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 2 9 7 1 1 0 0 0 0 ENSG00000273544 chr1 28580381 28580512 - SNORA44 snoRNA 677825 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000273549 chr5 179629151 179629410 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273550 chr13 63034992 63097797 + AL354810.1 lincRNA 0 0 0 5 0 0 0 0 0 ENSG00000273551 chr16 1148224 1148754 - AC120498.8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273552 chr13 27667540 27680566 - AL136439.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273553 chr16 27687182 27687522 + AC016597.2 sense_intronic 0 2 1 0 0 1 1 3 2 ENSG00000273555 chr20 45425510 45425573 + MIR6812 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465487 0 0 0 0 0 0 4 0 0 ENSG00000273557 chr5 141468465 141471528 + AC008781.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273558 chr14 19637225 19641306 + AL512310.10 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273559 chr17 38800434 38825481 - CWC25 protein_coding This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012]. 54883 GO:0071006, GO:0016607, GO:0005684, GO:0005654, GO:0005634, U2-type catalytic step 1 spliceosome, nuclear speck, U2-type spliceosomal complex, nucleoplasm, nucleus, GO:0005515, protein binding, GO:0000398, GO:0000398, GO:0000398, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, mRNA splicing, via spliceosome, 5 0 1 1 2 4 4 6 6 ENSG00000273565 chr14 75176929 75177418 + AL691403.2 lincRNA 1 1 2 2 2 11 0 2 0 ENSG00000273566 chr10 21455236 21455515 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273567 chr8 85654684 85658514 - REXO1L3P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273568 chr12 131934642 131934928 + AC131009.3 sense_intronic 1 1 2 2 1 2 3 0 2 ENSG00000273569 chr5 163855140 163856642 - AC008432.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273570 chr12 97495932 97496057 + RF01966 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273571 chr7 116954983 116955154 + RF02188 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273573 chr1 181668749 181669028 + RF00017 misc_RNA 1 2 0 4 3 4 2 0 3 ENSG00000273576 chr17 39566915 39567559 + AC009283.1 lincRNA 20 31 24 17 21 18 15 15 30 ENSG00000273580 chr7 35933888 35934569 + AC087072.2 unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000273582 chr16 29225594 29226348 - AC009093.5 lincRNA 2 6 5 1 5 0 3 0 2 ENSG00000273584 chr18 68908048 68908599 + AC096708.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273585 chr15 101613676 101614339 - LINC02348 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000273586 chr14 21601882 21602825 - OR10G1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273587 chr16 1965184 1965310 + SNORA78 snoRNA 677844 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000273588 chr2 131625957 131628147 + AC093838.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273589 chrY 22646031 22646327 - AC008175.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273590 chr21 7744962 7777853 + SMIM11B protein_coding 102723553 0 0 0 0 0 0 0 0 0 ENSG00000273591 chr1 149290513 149290762 + RF00100 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273593 chr8 2076589 2076640 + MIR7160 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465695 0 0 0 0 0 0 0 0 0 ENSG00000273595 chr2 106207394 106208115 + AC092106.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273596 chr7 116954480 116954679 + RF02187 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273597 chr9 35001342 35002994 - AL355377.1 processed_pseudogene 7 4 6 20 19 13 14 11 15 ENSG00000273598 chr7 75316048 75327765 - AC211486.3 unprocessed_pseudogene 0 0 1 3 1 10 0 1 0 ENSG00000273599 chr10 124996064 125001491 + AL731571.1 antisense 158 164 177 189 247 245 163 194 143 ENSG00000273600 chr11 95756959 95757442 - AP001877.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273604 chr17 38671703 38675421 - EPOP protein_coding 100170841 GO:0070449, GO:0035098, GO:0005694, elongin complex, ESC/E(Z) complex, chromosome, GO:0003682, chromatin binding, GO:0048863, GO:0048663, GO:0035616, GO:0006357, stem cell differentiation, neuron fate commitment, histone H2B conserved C-terminal lysine deubiquitination, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000273606 chr17 2692861 2692919 - MIR6776 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465465 0 0 0 0 0 0 0 0 0 ENSG00000273609 chr17 30617680 30617790 - AC005562.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273610 chr1 21987481 21987777 + RN7SL386P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273611 chr17 36486629 36499310 + ZNHIT3 protein_coding 9326 GO:0070761, GO:0005737, GO:0005634, GO:0005634, pre-snoRNP complex, cytoplasm, nucleus, nucleus, GO:0046966, GO:0046872, GO:0005515, thyroid hormone receptor binding, metal ion binding, protein binding, GO:0048254, GO:0006355, GO:0000492, GO:0000463, snoRNA localization, regulation of transcription, DNA-templated, box C/D snoRNP assembly, maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), 0 0 0 0 0 0 0 0 0 ENSG00000273612 chr13 50068107 50068164 + RF02108 misc_RNA 0 5 7 3 1 5 6 5 3 ENSG00000273613 chr16 18344013 18344079 - MIR6511A4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465684 0 0 0 0 0 0 0 0 0 ENSG00000273614 chr21 7826098 7826225 - RF00614 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000273618 chr14 23530682 23532367 + AL135999.2 antisense 0 1 0 0 0 0 0 0 0 ENSG00000273619 chr20 62386303 62386970 - AL121832.2 antisense 5 12 6 6 0 14 2 7 0 ENSG00000273621 chr4 144739762 144739941 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273623 chr7 87345082 87345233 + RF02195 misc_RNA 4 3 0 7 0 8 2 3 0 ENSG00000273627 chr17 38719691 38719748 + MIR4726 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616153 0 0 0 0 0 0 0 0 0 ENSG00000273628 chr13 24933006 24936796 + AL354798.1 unprocessed_pseudogene 4 1 1 11 4 6 7 6 2 ENSG00000273629 chr1 176217541 176217602 + RF00066 snRNA 0 0 0 0 0 0 0 0 1 ENSG00000273634 chr2 97008368 97009104 - AC079395.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273637 chr1 38839333 38874494 - AL139260.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273639 chr14 19499737 19677923 + AL512310.11 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273640 chr6 170651012 170651338 - WBP1LP8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273643 chr22 18650023 18653617 - PPP1R26P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273644 chr7 37032 37477 + AC215522.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273648 chr16 5632467 5632566 + MIR8065 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465867 0 0 0 0 0 0 0 0 0 ENSG00000273650 chr17 42751289 42751717 - AC100793.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273654 chr19 18022403 18032099 + AC020904.2 transcribed_processed_pseudogene 1 3 6 3 2 0 1 4 0 ENSG00000273657 chr19 7617439 7617505 + MIR6792 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465475 0 0 0 0 0 0 0 0 0 ENSG00000273658 chr12 53464720 53464901 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273659 chr16 76582556 76583098 + AC108125.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273664 chr18 59700523 59700946 + AC010776.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273668 chr9 66017643 66017868 - AL136317.1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273669 chr18 75073543 75074205 + AC015819.1 lincRNA 15 17 20 17 24 20 8 20 7 ENSG00000273674 chr15 50839875 50908599 - AC021752.1 lincRNA 2 0 1 0 0 0 0 0 0 ENSG00000273675 chr14 50471769 50472592 + AL118556.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273677 chr11 32436311 32436447 + RF02204 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273679 chr15 22371736 22373570 + AC100757.1 processed_pseudogene 0 1 4 0 1 0 0 2 0 ENSG00000273680 chr12 29332733 29333383 - AC009318.2 antisense 30 27 15 53 43 36 41 31 17 ENSG00000273682 chr3 46918807 46918935 - AC109583.2 processed_pseudogene 0 0 1 5 1 0 7 0 3 ENSG00000273687 chr17 35018660 35018991 + AC004223.3 antisense 0 0 4 1 2 14 4 0 0 ENSG00000273691 chr15 90024955 90026003 + AC087284.1 sense_intronic 11 6 11 3 9 5 8 7 1 ENSG00000273692 chr21 13704853 13705518 + AL050303.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273693 chrY 11085476 11086061 - C2orf27AP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273694 chr1 120571120 120571264 + RF00004 snRNA 0 0 0 2 0 0 0 0 0 ENSG00000273696 chrX 135829247 135837268 - CT45A7 protein_coding 101060211 GO:0032039, integrator complex, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000273698 chr1 114279011 114279275 - MRPL57P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273700 chr12 111304142 111304209 + MIR6760 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465455 0 0 0 0 0 0 0 0 0 ENSG00000273701 chr5 60487713 60487929 + RF02159 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273702 chr17 59618553 59619714 - AC091271.1 lincRNA 14 19 24 220 251 317 120 111 151 ENSG00000273703 chr6 27815044 27815424 + HIST1H2BM protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8342 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleosome, GO:0046982, GO:0003677, GO:0003677, protein heterodimerization activity, DNA binding, DNA binding, GO:0016567, GO:0006334, GO:0006334, protein ubiquitination, nucleosome assembly, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000273704 chrX 34768327 34768688 - AL596245.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273706 chr17 36936785 36944612 + LHX1 protein_coding This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]. 3975 GO:0032991, GO:0005634, GO:0005634, GO:0000785, protein-containing complex, nucleus, nucleus, chromatin, GO:1990837, GO:0046872, GO:0005515, GO:0003700, GO:0000981, GO:0000981, GO:0000977, sequence-specific double-stranded DNA binding, metal ion binding, protein binding, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000768, GO:2000744, GO:2000543, GO:0097477, GO:0097379, GO:0090190, GO:0090009, GO:0072284, GO:0072283, GO:0072278, GO:0072224, GO:0072197, GO:0072178, GO:0072177, GO:0072077, GO:0072050, GO:0072049, GO:0061205, GO:0060429, GO:0060322, GO:0060068, GO:0060067, GO:0060066, GO:0060065, GO:0060059, GO:0048793, GO:0048703, GO:0048646, GO:0045893, GO:0045892, GO:0044344, GO:0040019, GO:0035852, GO:0035849, GO:0035847, GO:0035846, GO:0035502, GO:0032525, GO:0030182, GO:0021937, GO:0021871, GO:0021702, GO:0021549, GO:0021537, GO:0021527, GO:0021517, GO:0010842, GO:0010468, GO:0009953, GO:0009952, GO:0009948, GO:0009887, GO:0009880, GO:0009791, GO:0009653, GO:0008045, GO:0007399, GO:0007389, GO:0007267, GO:0006366, GO:0006357, GO:0001822, GO:0001706, GO:0001705, GO:0001702, GO:0001658, GO:0001657, GO:0001655, positive regulation of nephron tubule epithelial cell differentiation, positive regulation of anterior head development, positive regulation of gastrulation, lateral motor column neuron migration, dorsal spinal cord interneuron posterior axon guidance, positive regulation of branching involved in ureteric bud morphogenesis, primitive streak formation, metanephric S-shaped body morphogenesis, metanephric renal vesicle morphogenesis, metanephric comma-shaped body morphogenesis, metanephric glomerulus development, ureter morphogenesis, nephric duct morphogenesis, mesonephric duct development, renal vesicle morphogenesis, S-shaped body morphogenesis, comma-shaped body morphogenesis, paramesonephric duct development, epithelium development, head development, vagina development, cervix development, oviduct development, uterus development, embryonic retina morphogenesis in camera-type eye, pronephros development, embryonic viscerocranium morphogenesis, anatomical structure formation involved in morphogenesis, positive regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, cellular response to fibroblast growth factor stimulus, positive regulation of embryonic development, horizontal cell localization, nephric duct elongation, uterine epithelium development, oviduct epithelium development, metanephric part of ureteric bud development, somite rostral/caudal axis specification, neuron differentiation, cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation, forebrain regionalization, cerebellar Purkinje cell differentiation, cerebellum development, telencephalon development, spinal cord association neuron differentiation, ventral spinal cord development, retina layer formation, regulation of gene expression, dorsal/ventral pattern formation, anterior/posterior pattern specification, anterior/posterior axis specification, animal organ morphogenesis, embryonic pattern specification, post-embryonic development, anatomical structure morphogenesis, motor neuron axon guidance, nervous system development, pattern specification process, cell-cell signaling, transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, kidney development, endoderm formation, ectoderm formation, gastrulation with mouth forming second, branching involved in ureteric bud morphogenesis, ureteric bud development, urogenital system development, 0 0 0 0 0 0 0 0 0 ENSG00000273709 chr17 43241180 43241370 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000273710 chr8 28915579 28915864 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273711 chr14 73873689 73885555 - AC005520.5 antisense 4 2 2 9 3 7 19 3 3 ENSG00000273712 chr6 28315613 28315883 - AL021997.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273716 chr4 118460224 118460301 - AC092670.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273717 chr9 42011350 42011610 + RN7SL343P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273719 chr6 146638844 146639261 - AL359547.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273720 chr7 55743073 55743457 + AC091812.2 processed_pseudogene 0 0 0 0 0 0 1 1 0 ENSG00000273721 chr15 60409234 60409420 - AC087385.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273723 chr13 52651305 52652279 - AL139089.1 lincRNA 2 0 2 3 2 4 3 0 5 ENSG00000273724 chr16 30336400 30343336 + AC106782.5 unprocessed_pseudogene 10 8 16 18 18 22 17 3 2 ENSG00000273725 chr11 9279532 9279816 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273727 chr1 120354987 120355148 + RF00003 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000273729 chr14 77028086 77031572 + AC007686.3 antisense 277 275 280 147 182 153 160 170 134 ENSG00000273731 chrY 8931069 8931454 - AC007967.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273732 chr18 14680604 14681106 - VN1R74P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273733 chr19 11221083 11221573 + AC011472.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273734 chr19 2269525 2341172 + AC005258.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000273736 chr17 35963488 35965472 - AC244100.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273742 chr5 1510762 1510856 - MIR6075 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466103 0 9 6 1 13 3 1 12 11 ENSG00000273744 chr6 106271634 106271720 + RF00015 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000273745 chr20 10649636 10649695 - MIR6870 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465525 0 0 0 0 0 0 0 0 0 ENSG00000273746 chrX 102259043 102261692 + AC234791.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273747 chr15 83020115 83020802 + AC022558.3 antisense 19 15 24 27 27 21 23 11 9 ENSG00000273749 chr15 22867052 22981063 - CYFIP1 protein_coding This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization.This protein also interacts with the Fragile X mental retardation protein (FMRP) and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, May 2017]. 23191 GO:1904724, GO:0090725, GO:0090724, GO:0070062, GO:0060076, GO:0048471, GO:0045202, GO:0044295, GO:0044294, GO:0043197, GO:0043195, GO:0043025, GO:0043005, GO:0043005, GO:0035580, GO:0034774, GO:0032433, GO:0031209, GO:0031209, GO:0030027, GO:0005925, GO:0005845, GO:0005829, GO:0005576, GO:0001726, tertiary granule lumen, peripheral region of growth cone, central region of growth cone, extracellular exosome, excitatory synapse, perinuclear region of cytoplasm, synapse, axonal growth cone, dendritic growth cone, dendritic spine, terminal bouton, neuronal cell body, neuron projection, neuron projection, specific granule lumen, secretory granule lumen, filopodium tip, SCAR complex, SCAR complex, lamellipodium, focal adhesion, mRNA cap binding complex, cytosol, extracellular region, ruffle, GO:0051015, GO:0031267, GO:0031267, GO:0005515, GO:0000340, actin filament binding, small GTPase binding, small GTPase binding, protein binding, RNA 7-methylguanosine cap binding, GO:2000601, GO:1905274, GO:1903422, GO:1900029, GO:1900006, GO:0099563, GO:0097484, GO:0051602, GO:0051388, GO:0050890, GO:0048675, GO:0048010, GO:0045773, GO:0043312, GO:0038096, GO:0032869, GO:0031641, GO:0031529, GO:0030032, GO:0030032, GO:0030031, GO:0016601, GO:0008360, GO:0007411, GO:0006417, GO:0000902, positive regulation of Arp2/3 complex-mediated actin nucleation, regulation of modification of postsynaptic actin cytoskeleton, negative regulation of synaptic vesicle recycling, positive regulation of ruffle assembly, positive regulation of dendrite development, modification of synaptic structure, dendrite extension, response to electrical stimulus, positive regulation of neurotrophin TRK receptor signaling pathway, cognition, axon extension, vascular endothelial growth factor receptor signaling pathway, positive regulation of axon extension, neutrophil degranulation, Fc-gamma receptor signaling pathway involved in phagocytosis, cellular response to insulin stimulus, regulation of myelination, ruffle organization, lamellipodium assembly, lamellipodium assembly, cell projection assembly, Rac protein signal transduction, regulation of cell shape, axon guidance, regulation of translation, cell morphogenesis, 168 144 200 106 138 121 96 133 108 ENSG00000273750 chr17 48723188 48723314 + RF02132 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273756 chr15 23326256 23334127 - AC100756.3 transcribed_unprocessed_pseudogene 102723623 0 0 0 0 0 0 0 0 0 ENSG00000273758 chr19 6392921 6392983 - MIR6790 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465473 0 0 0 0 0 0 0 0 0 ENSG00000273759 chr20 62928621 62929297 - AL117379.1 lincRNA 3 5 9 6 4 6 7 9 3 ENSG00000273760 chr10 47970043 47973496 - AC245041.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273762 chr18 52419189 52419644 - VN1R76P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273763 chr2 65203502 65227605 - AC007318.2 transcribed_processed_pseudogene 49 29 57 18 11 21 30 11 27 ENSG00000273765 chr12 48360920 48361377 + AC024257.4 lincRNA 1 0 2 0 0 0 3 0 5 ENSG00000273767 chr10 121949412 121949487 - RF02219 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000273768 chr1 146376807 146376970 + RF00003 snRNA 0 0 0 0 2 1 0 1 0 ENSG00000273769 chrX 153880672 153888990 + LCA10 processed_transcript 100996465 0 0 0 0 0 0 0 0 0 ENSG00000273771 chr15 96080713 96084584 - AC024337.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273773 chrX 154620096 154620171 + AC244107.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273776 chr16 3485381 3485469 - MIR6126 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465134 GO:0070062, extracellular exosome, 22 34 16 5 30 11 9 14 11 ENSG00000273777 chr19 44501677 44529788 - CEACAM20 protein_coding 125931 GO:0031528, GO:0016324, GO:0016021, microvillus membrane, apical plasma membrane, integral component of membrane, GO:0009617, GO:0002376, GO:0001819, response to bacterium, immune system process, positive regulation of cytokine production, 0 0 0 0 1 0 0 0 0 ENSG00000273778 chr14 105150778 105150864 - MIR6765 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465458 0 0 0 0 0 0 0 0 0 ENSG00000273782 chr19 15834730 15834804 + RF02202 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273783 chr14 81221218 81222460 + AL136040.1 antisense 4 6 1 18 22 11 4 4 28 ENSG00000273784 chr13 52600042 52642542 + AL137058.2 processed_transcript 0 0 0 0 0 2 0 0 0 ENSG00000273786 chr15 40226386 40227069 + AC020658.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273788 chrX 72726122 72726337 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000273791 chr19 19908268 19909146 - AC007204.1 unprocessed_pseudogene 0 0 1 0 0 0 3 0 3 ENSG00000273792 chr15 60847757 60849068 - AC022898.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273796 chr21 45403809 45404369 - BX322562.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273797 chr14 69617122 69617648 + AL133445.2 sense_intronic 5 7 13 11 15 3 22 11 4 ENSG00000273800 chrX 12583415 12583526 - AC119619.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273802 chr6 26215159 26216692 - HIST1H2BG protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein has antibacterial and antifungal antimicrobial activity. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8339 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005615, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, extracellular space, nucleosome, GO:0046982, GO:0042802, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, identical protein binding, protein binding, DNA binding, DNA binding, GO:0061844, GO:0050830, GO:0019731, GO:0016567, GO:0006334, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, antibacterial humoral response, protein ubiquitination, nucleosome assembly, nucleosome assembly, innate immune response in mucosa, 95 108 79 104 219 152 112 240 167 ENSG00000273804 chr16 14953012 14953120 - AC138932.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273805 chr12 57894232 57896846 + AC083805.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273806 chr9 83201957 83202065 + AL137847.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273812 chr20 62596732 62603115 - BX640514.2 lincRNA 4 10 21 0 22 6 2 13 7 ENSG00000273813 chr11 3335125 3335407 - AC123788.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273816 chr17 9244666 9244897 - AC005695.3 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000273818 chr15 30091662 30091898 + RN7SL673P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273819 chr11 67812557 67873367 - ENPP7P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273820 chrX 49879948 49882565 + USP27X protein_coding This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]. 389856 GO:0005829, GO:0005634, cytosol, nucleus, GO:1990380, GO:0061578, GO:0008234, GO:0004843, Lys48-specific deubiquitinase activity, Lys63-specific deubiquitinase activity, cysteine-type peptidase activity, thiol-dependent ubiquitin-specific protease activity, GO:0071108, GO:0070536, GO:0050821, GO:0043065, GO:0016579, GO:0006511, protein K48-linked deubiquitination, protein K63-linked deubiquitination, protein stabilization, positive regulation of apoptotic process, protein deubiquitination, ubiquitin-dependent protein catabolic process, 4 2 5 6 8 8 16 5 11 ENSG00000273821 chr20 63218041 63218502 + AL096828.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273824 chr12 68426331 68427737 - AC008033.3 lincRNA 1 0 2 0 0 3 0 1 0 ENSG00000273825 chr1 144754572 144786606 - FP700111.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273828 chr20 46364551 46390885 + AL133227.1 antisense 24 59 45 22 31 48 26 27 39 ENSG00000273829 chr16 50054143 50054430 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273830 chr14 72516820 72516898 + MIR7843 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465832 0 0 0 0 0 0 0 0 0 ENSG00000273835 chr15 25193321 25193402 + SNORD115-13 snoRNA 100033450 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000273836 chr8 27433370 27433434 + MIR6842 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465507 0 0 0 0 0 2 0 2 0 ENSG00000273837 chr19 51639478 51639931 - AC018755.4 sense_intronic 40 0 0 7 0 0 57 0 0 ENSG00000273838 chr20 23458529 23459459 + AL109954.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273840 chr21 10482738 10605716 + AF254983.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000273841 chr5 69364743 69370013 - TAF9 protein_coding Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 6880 GO:0071339, GO:0070761, GO:0033276, GO:0033276, GO:0030914, GO:0005669, GO:0005669, GO:0005654, GO:0005654, GO:0005634, GO:0000125, GO:0000124, MLL1 complex, pre-snoRNP complex, transcription factor TFTC complex, transcription factor TFTC complex, STAGA complex, transcription factor TFIID complex, transcription factor TFIID complex, nucleoplasm, nucleoplasm, nucleus, PCAF complex, SAGA complex, GO:0070742, GO:0051117, GO:0046982, GO:0033613, GO:0016251, GO:0016251, GO:0005515, GO:0004402, GO:0003713, GO:0003713, GO:0003713, GO:0003677, GO:0002039, GO:0000976, C2H2 zinc finger domain binding, ATPase binding, protein heterodimerization activity, activating transcription factor binding, RNA polymerase II general transcription initiation factor activity, RNA polymerase II general transcription initiation factor activity, protein binding, histone acetyltransferase activity, transcription coactivator activity, transcription coactivator activity, transcription coactivator activity, DNA binding, p53 binding, transcription regulatory region sequence-specific DNA binding, GO:1902166, GO:1901796, GO:0070555, GO:0060760, GO:0050821, GO:0045944, GO:0045944, GO:0043966, GO:0043966, GO:0043066, GO:0042795, GO:0032435, GO:0006974, GO:0006367, GO:0006366, GO:0006366, GO:0000492, negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator, regulation of signal transduction by p53 class mediator, response to interleukin-1, positive regulation of response to cytokine stimulus, protein stabilization, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, histone H3 acetylation, histone H3 acetylation, negative regulation of apoptotic process, snRNA transcription by RNA polymerase II, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, cellular response to DNA damage stimulus, transcription initiation from RNA polymerase II promoter, transcription by RNA polymerase II, transcription by RNA polymerase II, box C/D snoRNP assembly, 1 0 1 0 1 4 0 0 0 ENSG00000273844 chr1 196970495 196970671 + AL139418.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273846 chr22 21379382 21379701 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273849 chr9 66724584 66725064 + SDR42E1P4 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000273851 chr15 69022230 69024176 + AC027088.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273853 chr12 33432311 33432853 - AC023158.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273855 chr15 40285468 40285909 - AC020658.5 sense_intronic 15 9 9 17 40 28 27 19 16 ENSG00000273858 chrY 11042722 11042943 - AC140113.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273860 chr5 67855735 67855986 + AC024581.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273863 chrY 7905536 7907303 - AC010678.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273866 chr22 37578669 37578922 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273870 chr6 35070871 35071049 - AL138721.1 processed_pseudogene 2 2 1 4 4 0 4 2 3 ENSG00000273872 chr21 10612455 10613379 - SLC25A15P4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273874 chr1 187891 187958 - MIR6859-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465909 0 0 0 0 0 0 0 0 0 ENSG00000273876 chr8 5127919 5128233 - AC019176.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273877 chrX 153225649 153230357 + AC236972.3 lincRNA 105373373 0 0 1 0 0 0 0 0 2 ENSG00000273882 chr4 101240795 101240872 - MIR8066 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465868 0 0 0 0 0 0 0 0 2 ENSG00000273885 chr11 93721797 93721866 + RF00493 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000273886 chr13 34910545 34910815 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273888 chr14 51649516 51651744 - FRMD6-AS1 antisense 145438 0 1 0 0 1 0 2 0 0 ENSG00000273890 chr12 56010091 56010574 - AC034102.8 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273891 chr10 121965764 121967700 + AL731566.1 antisense 7 12 8 9 5 23 10 4 11 ENSG00000273893 chr20 46681676 46682375 - AL133520.1 sense_intronic 1 3 2 0 0 0 0 0 0 ENSG00000273894 chr14 106179554 106180519 - SLC20A1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273897 chr7 73037371 73049246 + AC211476.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273898 chr19 49009906 49009972 + MIR6798 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466738 0 0 0 0 0 0 0 0 0 ENSG00000273899 chr22 37681673 37693478 + NOL12 protein_coding 79159 GO:0005730, nucleolus, GO:0042802, GO:0019843, GO:0005515, GO:0003723, GO:0003723, identical protein binding, rRNA binding, protein binding, RNA binding, RNA binding, 26 20 27 34 30 38 32 17 33 ENSG00000273900 chr9 42921443 42921670 - CR848007.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273901 chr19 58500505 58501137 + AC012313.9 antisense 1 0 0 0 0 0 0 0 0 ENSG00000273904 chr10 114168156 114168280 - RF02277 ribozyme 0 0 0 0 0 0 0 0 0 ENSG00000273906 chrY 6918682 6920791 + AC011297.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000273907 chr22 18636445 18638405 - CA15P2 unprocessed_pseudogene 0 1 0 0 3 0 0 1 0 ENSG00000273908 chr11 32439716 32440009 + RF02209 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273912 chr11 28477481 28477548 - MIR8068 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466876 0 0 0 0 0 0 0 0 0 ENSG00000273913 chr2 42511570 42511851 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273919 chr13 53345211 53410880 + AL450423.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273920 chr15 81335577 81336119 + AC103858.2 antisense 1 1 1 4 3 2 1 5 3 ENSG00000273923 chr15 95225326 95225864 - AC104260.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273925 chr15 48662531 48663056 - AC084757.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273927 chr7 73039085 73039186 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273932 chr9 133051996 133052059 + MIR6877 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465528 0 0 0 0 0 0 0 0 0 ENSG00000273933 chr1 159972548 159974064 - AL513485.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273940 chr9 61789143 61789426 + RN7SL722P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273942 chr12 97492462 97492597 + RF01963 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273945 chr9 35732922 35732995 + MIR6853 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466201 0 0 0 0 0 0 0 0 0 ENSG00000273946 chr10 87154041 87154369 - RN7SL733P misc_RNA 0 0 0 0 0 2 0 0 0 ENSG00000273948 chr17 17675366 17675522 + RF02177 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273950 chr2 127856890 127857147 + RF00017 misc_RNA 0 0 0 0 0 0 1 0 4 ENSG00000273951 chr20 41485571 41486225 - AL031667.3 sense_intronic 0 0 0 0 0 8 0 2 3 ENSG00000273956 chr16 21526824 21531141 - AC005632.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273957 chr5 100388853 100389938 + AC113385.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273958 chr15 60593027 60593460 + AC009560.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273961 chr7 27185433 27185530 + RF02137 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273962 chr2 89330110 89330429 - IGKV2-40 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000273963 chr16 5110793 5148685 - ENPP7P14 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273964 chr13 28629794 28629883 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273965 chr17 37407936 37408594 - AC243654.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000273966 chrY 17568962 17569051 - RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273971 chr16 75497948 75498289 - AC009163.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273972 chr15 45702640 45703183 + AC068722.2 lincRNA 0 4 1 4 12 8 7 1 7 ENSG00000273973 chr12 55929170 55929729 + AC025162.2 sense_intronic 0 0 1 1 1 4 0 0 0 ENSG00000273974 chrX 74280402 74280495 + RF02120 misc_RNA 3 1 2 0 3 5 0 1 3 ENSG00000273975 chr2 201097744 201098091 + RF00017 misc_RNA 0 3 6 5 3 4 1 0 8 ENSG00000273976 chr15 23128268 23136822 - GOLGA6L1 protein_coding 283767 0 0 0 0 0 0 0 0 0 ENSG00000273978 chr8 87867601 87868607 + AC005066.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273979 chr22 40917111 40917381 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273980 chr10 133257144 133257551 - AL592071.1 lincRNA 2 4 8 3 14 5 15 4 12 ENSG00000273981 chr15 23165897 23166186 + RN7SL106P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273982 chr17 61354763 61355155 - AC005746.3 antisense 1 3 4 0 2 0 7 1 0 ENSG00000273983 chr6 26269405 26271815 - HIST1H3G protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8355 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nuclear chromosome, GO:0046982, GO:0045296, GO:0005515, GO:0003677, protein heterodimerization activity, cadherin binding, protein binding, DNA binding, GO:0060968, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0032200, GO:0007596, GO:0006335, GO:0006334, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, telomere organization, blood coagulation, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 0 0 0 0 0 0 3 0 0 ENSG00000273986 chr20 36561237 36561530 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000273987 chr12 75333798 75334486 - AC121761.2 sense_intronic 0 0 0 0 0 0 3 1 2 ENSG00000273988 chrX 135445897 135447368 - AL450472.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273989 chr12 28236227 28236828 + AC022079.1 sense_intronic 1 4 1 0 0 3 0 0 0 ENSG00000273994 chr9 39651901 39652377 - SDR42E1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000273997 chr6 147406531 147406824 + AL355365.1 processed_pseudogene 0 0 0 1 0 0 0 1 0 ENSG00000273998 chr20 16576068 16579615 + AL049794.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000273999 chr9 67211663 67213067 - RBM17P2 processed_pseudogene 0 0 1 0 2 0 0 0 0 ENSG00000274001 chr13 43877715 43878163 - AL512506.1 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000274002 chr14 23619201 23620012 + AL135999.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274004 chr11 83386988 83387102 + RF01974 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274006 chr11 84887207 84887419 + RF02112 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274008 chr10 69098496 69098794 + RF00017 misc_RNA 38 41 71 322 651 490 306 266 352 ENSG00000274010 chr2 127840606 127841763 - AC006011.2 processed_pseudogene 1 0 1 0 3 0 0 0 0 ENSG00000274011 chr9 98115885 98116135 + RF00017 misc_RNA 3 2 2 3 0 0 2 2 4 ENSG00000274012 chr14 49862550 49862849 - RN7SL2 misc_RNA The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL2, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008]. 378706 GO:0005786, signal recognition particle, endoplasmic reticulum targeting, GO:0006617, SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition, 1128 899 939 550 1025 1000 1167 992 1013 ENSG00000274015 chr14 63642143 63642696 + AL136038.5 lincRNA 0 0 0 4 5 8 2 8 2 ENSG00000274017 chr12 49196784 49197062 + RF00017 misc_RNA 0 0 1 0 2 0 0 0 0 ENSG00000274019 chr1 149111304 149121866 - AC239804.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274020 chr1 148290889 148519604 - LINC01138 processed_transcript 77 96 106 83 98 145 89 75 71 ENSG00000274021 chr12 89351015 89353271 + AC024909.2 antisense 5140 2938 8424 110 216 139 126 200 189 ENSG00000274022 chrX 90208895 90209418 - AL121873.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274023 chr6 158282841 158428379 + AL360169.2 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000274024 chrX 135297046 135298585 + AL590282.1 processed_pseudogene 1 8 3 0 2 1 1 0 0 ENSG00000274025 chr16 18488301 18488365 - MIR3670-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504740 0 0 0 0 0 0 0 0 0 ENSG00000274026 chr9 67717411 67719178 - FAM27E3 transcribed_processed_pseudogene 100131997 GO:0005515, protein binding, 2 6 1 4 10 4 0 4 5 ENSG00000274028 chr2 95588149 95589253 + AC009237.16 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274029 chr12 121190868 121191518 + AC069209.1 lincRNA 0 0 0 0 0 0 0 2 0 ENSG00000274031 chr16 56465642 56466162 - AC092140.2 antisense 0 1 3 4 3 0 4 3 0 ENSG00000274033 chr19 20056466 20056594 - AC006539.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274034 chr20 64076955 64077010 - MIR6813 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466741 GO:0070062, extracellular exosome, 1 8 4 6 2 0 0 0 0 ENSG00000274038 chr16 11056556 11057034 + AC007014.2 sense_intronic 2 1 2 0 9 2 0 3 0 ENSG00000274044 chr22 18361823 18391105 - LINC01660 lincRNA 729461 0 0 0 0 0 0 0 0 0 ENSG00000274046 chr21 7092616 7092716 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274049 chr2 74455088 74460884 + INO80B-WBP1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000274051 chr17 76721216 76721396 - RF02271 misc_RNA 3 4 2 19 42 14 14 5 12 ENSG00000274052 chr13 63737511 63742804 + OR7E156P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274054 chr17 38825838 38825892 + MIR4727 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616416 0 0 0 0 0 0 0 0 0 ENSG00000274055 chr9 22046758 22046901 + RF02045 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274056 chr10 98924499 98924568 - MIR6507 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465253 0 0 0 0 0 0 0 0 0 ENSG00000274059 chr1 207708898 207708981 - RNA5SP534 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000274060 chr21 8249505 8249596 + MIR6724-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504727 0 0 0 0 0 0 0 0 0 ENSG00000274062 chr17 43284139 43284329 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274064 chr8 140039756 140041037 + AC040978.1 processed_pseudogene 0 0 1 2 3 0 2 2 0 ENSG00000274066 chr11 62792702 62792771 - MIR6514 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465257 1 0 0 11 34 13 4 3 2 ENSG00000274067 chr9 40481559 40497591 - FP885919.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274068 chr1 108837660 108963484 - AL449266.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000274070 chr7 74964818 75024798 + CASTOR2 protein_coding 729438 GO:0061700, GO:0061700, GO:0005829, GO:0005829, GATOR2 complex, GATOR2 complex, cytosol, cytosol, GO:0042802, GO:0034618, GO:0005515, identical protein binding, arginine binding, protein binding, GO:1904262, GO:1904262, GO:1903577, GO:1902531, negative regulation of TORC1 signaling, negative regulation of TORC1 signaling, cellular response to L-arginine, regulation of intracellular signal transduction, 40 48 44 18 31 21 26 30 35 ENSG00000274072 chr11 65506117 65506173 + RF01684 sRNA 0 0 0 0 0 0 0 0 0 ENSG00000274075 chr12 27824207 27824382 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274076 chr15 32446674 32446964 - RN7SL539P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274079 chr15 96496180 96496462 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274080 chr7 73609262 73611502 - AC005089.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274086 chrX 147911822 147911948 + RF02118 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274090 chr13 55535697 55583524 - AL354821.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274091 chr17 76558791 76558868 + SNORD1C snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000274092 chr16 27313387 27314101 - AC106739.1 antisense 89 72 151 38 24 41 32 29 32 ENSG00000274093 chr16 69632141 69632571 + AC009032.1 sense_intronic 9 8 11 2 7 16 4 0 3 ENSG00000274097 chr11 102057854 102057960 + RNA5SP535 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000274098 chr9 67791499 67791782 - RN7SL787P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274099 chr15 23179869 23182049 + ABCB10P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274100 chr9 67721884 67722094 - AL627230.1 unprocessed_pseudogene 1 2 0 0 0 6 0 1 0 ENSG00000274102 chr15 22070241 22083221 + OR4M2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390538 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000274104 chr19 34733298 34733837 - AC020910.4 lincRNA 0 0 1 8 1 13 3 2 0 ENSG00000274105 chr12 32728169 32729024 - AC084824.3 sense_intronic 0 3 0 1 4 5 0 1 2 ENSG00000274111 chr17 17813480 17813545 - MIR6777 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465466 0 0 0 0 0 0 0 0 0 ENSG00000274114 chr17 6657034 6693577 + ALOX15P1 transcribed_unprocessed_pseudogene 8 10 13 10 12 23 14 9 13 ENSG00000274115 chr9 95065350 95065446 + MIR6081 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466518 0 0 0 0 0 0 0 0 0 ENSG00000274116 chr8 83293925 83294271 - AC090132.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274118 chr7 146311720 146311822 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274121 chr1 231814982 231815186 + RF02102 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000274124 chr12 48152817 48153128 + AC074029.3 antisense 0 3 11 0 4 3 0 0 0 ENSG00000274127 chr7 146208665 146208819 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274128 chr15 83962176 83962583 + AC027807.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274133 chr7 148445786 148446299 + AC083849.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274134 chr16 85918347 85918416 + MIR6774 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466732 0 0 0 0 0 0 3 0 0 ENSG00000274135 chr7 66915063 66915334 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274139 chr15 101495052 101495567 - AC090164.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274149 chr3 166605188 166605455 + AC072046.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274150 chr11 56890613 56927885 + FADS2P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274154 chr4 83369416 83369523 - AC114781.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274156 chr12 50934942 50935464 - AC008121.2 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000274157 chr9 40358454 40358682 + AL591471.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274159 chr2 32548675 32549040 + AL133243.1 sense_intronic 0 0 0 2 1 4 3 1 0 ENSG00000274162 chrY 11178306 11178816 + SNX18P1Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274164 chr17 36491199 36491322 - RNA5SP439 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274167 chr10 42242721 42276842 + AL031601.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274168 chr13 94699223 94699502 - RN7SL585P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274170 chr22 32368497 32368567 + RF02172 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274172 chr14 105621116 105621180 + MIR8071-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465871 0 0 0 0 0 0 0 0 0 ENSG00000274173 chr20 24931840 24932983 + AL035661.1 lincRNA 53 20 28 22 7 7 27 6 10 ENSG00000274177 chr19 1010221 1010907 + AC004528.2 antisense 528 533 661 770 772 957 771 607 677 ENSG00000274178 chr1 13029339 13032130 + PRAMEF28P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274180 chr17 21238870 21253410 - NATD1 protein_coding 256302 GO:0005515, protein binding, 758 1054 921 435 967 591 519 750 533 ENSG00000274181 chr9 66635754 66637197 + RBPJP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274183 chrX 154884972 154885558 + H2AFB1 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq, Oct 2015]. 474382 GO:0035327, GO:0005634, GO:0000786, GO:0000785, transcriptionally active chromatin, nucleus, nucleosome, chromatin, GO:0046982, GO:0003677, protein heterodimerization activity, DNA binding, GO:0006397, GO:0006342, GO:0006334, mRNA processing, chromatin silencing, nucleosome assembly, 0 0 4 0 0 4 0 0 0 ENSG00000274184 chr18 35268218 35270238 + AC011815.2 lincRNA 7 10 2 9 11 14 8 9 12 ENSG00000274186 chr10 46648948 46649276 + RN7SL248P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274191 chr12 122634130 122634673 + AC026333.4 lincRNA 0 0 0 0 4 0 0 3 0 ENSG00000274196 chrY 9479053 9486239 - FAM197Y4 transcribed_unprocessed_pseudogene 100289188 0 0 0 0 0 0 0 0 0 ENSG00000274197 chr11 130114251 130114335 - RF00015 snRNA 1 1 2 0 0 0 0 0 0 ENSG00000274198 chr17 58747055 58747340 + AC025521.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274199 chr1 63549489 63549608 - RF02105 misc_RNA 0 0 0 0 0 0 0 0 1 ENSG00000274204 chr13 106506046 106506713 - AL138689.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274206 chr2 96938923 96939203 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274209 chr10 46286345 46330207 + ANTXRL protein_coding 195977 GO:0016021, GO:0009986, GO:0005886, integral component of membrane, cell surface, plasma membrane, GO:0046872, GO:0004888, metal ion binding, transmembrane signaling receptor activity, GO:1901998, toxin transport, 0 0 2 0 2 0 0 4 0 ENSG00000274210 chr1 148522601 148522765 + RF00003 snRNA 0 0 0 2 3 18 9 7 0 ENSG00000274211 chr17 38352228 38405593 + SOCS7 protein_coding 30837 GO:0005942, GO:0005886, GO:0005829, GO:0005634, phosphatidylinositol 3-kinase complex, plasma membrane, cytosol, nucleus, GO:0046935, GO:0017124, GO:0005515, 1-phosphatidylinositol-3-kinase regulator activity, SH3 domain binding, protein binding, GO:0046854, GO:0045444, GO:0043551, GO:0040008, GO:0035556, GO:0021942, GO:0021819, GO:0016567, GO:0009968, GO:0008286, GO:0008150, phosphatidylinositol phosphorylation, fat cell differentiation, regulation of phosphatidylinositol 3-kinase activity, regulation of growth, intracellular signal transduction, radial glia guided migration of Purkinje cell, layer formation in cerebral cortex, protein ubiquitination, negative regulation of signal transduction, insulin receptor signaling pathway, biological_process, 12 4 6 20 5 10 14 3 7 ENSG00000274212 chr6 16041381 16041614 - AL365265.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274213 chr17 56914186 56914533 + AC015912.3 lincRNA 75 104 136 110 120 187 193 139 137 ENSG00000274214 chr18 14253548 14254075 + AP005212.2 processed_pseudogene 0 0 0 1 0 0 2 0 2 ENSG00000274215 chr15 92808451 92809057 + AC106028.4 lincRNA 41 55 58 64 57 60 94 62 97 ENSG00000274216 chr15 37216617 37216898 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274219 chr19 57111120 57112027 - AC025588.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274220 chr16 75433836 75436392 + AC009163.6 lincRNA 1 2 0 2 0 6 0 0 4 ENSG00000274225 chr21 44477850 44478493 + AP001065.1 lincRNA 1 3 3 0 1 0 0 1 0 ENSG00000274226 chr17 36377531 36388423 - TBC1D3H protein_coding 729877 GO:0005886, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 1 0 1 2 1 1 0 2 ENSG00000274227 chr12 112018804 112019430 - AC073575.2 antisense 4 11 14 6 8 24 10 4 8 ENSG00000274228 chr16 35748520 35748655 + RNA5SP414 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274230 chr12 97493178 97493286 + RF01964 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274231 chrY 11144250 11144492 + AC134878.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274234 chrY 24210958 24211216 - RN7SL818P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274235 chr5 150950109 150952460 - AC022106.1 unprocessed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000274238 chr4 89743792 89744305 + AC097478.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274242 chr10 25244061 25244854 - AL354976.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274244 chr17 37649133 37650894 + AC243585.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274248 chr21 45974489 45974953 + AJ011932.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274251 chr11 67353629 67354348 + AP003419.2 lincRNA 0 2 0 3 7 2 1 4 5 ENSG00000274252 chr22 18516344 18518161 - GGTLC3 protein_coding Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]. 728226 GO:0070062, extracellular exosome, GO:0036374, GO:0003674, glutathione hydrolase activity, molecular_function, GO:1901750, GO:0008150, GO:0006751, GO:0006508, leukotriene D4 biosynthetic process, biological_process, glutathione catabolic process, proteolysis, 0 0 0 2 0 0 2 0 0 ENSG00000274253 chr15 22757857 22778741 + AC138649.1 sense_overlapping 283683 0 0 0 0 0 0 3 0 0 ENSG00000274256 chr6 41250851 41251097 + AL391903.2 processed_pseudogene 12 32 27 10 53 34 28 30 63 ENSG00000274258 chr1 8866502 8866590 - MIR6728 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465436 0 0 1 0 0 0 0 0 0 ENSG00000274259 chr6 33437363 33454453 - SYNGAP1-AS1 antisense 0 0 2 0 0 0 0 0 0 ENSG00000274261 chr20 48407367 48410716 + AL137078.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274263 chr9 111271156 111271214 - MIR7702 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465800 0 0 0 0 0 0 0 0 0 ENSG00000274265 chr1 149176022 149251013 + AC245297.3 lincRNA 59 33 62 36 25 51 33 34 43 ENSG00000274266 chr1 28507366 28507571 + SNORA73A snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000274267 chr6 26031650 26032060 - HIST1H3B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000274269 chr20 1186092 1207036 + AL031665.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000274270 chr13 50125816 50128463 + AL137060.1 sense_intronic 10 9 6 27 33 33 8 6 17 ENSG00000274272 chr7 100572232 100578700 - AC069281.2 processed_transcript 316 363 351 276 410 303 313 253 297 ENSG00000274274 chrX 49331616 49338952 + GAGE13 protein_coding 645051 0 0 0 0 0 0 0 0 0 ENSG00000274275 chr18 32031035 32031359 + AC009831.3 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000274276 chr21 6444869 6468040 - CBSL protein_coding 102724560 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0046872, GO:0030170, GO:0020037, GO:0005515, GO:0004122, metal ion binding, pyridoxal phosphate binding, heme binding, protein binding, cystathionine beta-synthase activity, GO:0070814, GO:0019346, GO:0019343, GO:0006535, hydrogen sulfide biosynthetic process, transsulfuration, cysteine biosynthetic process via cystathionine, cysteine biosynthetic process from serine, 2 11 4 6 2 18 4 1 0 ENSG00000274279 chr15 22401208 22406944 + SPATA31E3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274280 chr22 35336721 35336799 - MIR6069 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464824 GO:0070062, extracellular exosome, 14 30 32 12 11 14 11 7 8 ENSG00000274281 chr15 38851306 38853432 - AC022929.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274282 chrY 19253960 19260875 - AC010133.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274284 chr17 38231043 38231144 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274286 chr2 96112875 96116245 - ADRA2B protein_coding This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]. 151 GO:0009986, GO:0005887, GO:0005886, cell surface, integral component of plasma membrane, plasma membrane, GO:0051379, GO:0051379, GO:0005515, GO:0004938, GO:0004938, GO:0004930, epinephrine binding, epinephrine binding, protein binding, alpha2-adrenergic receptor activity, alpha2-adrenergic receptor activity, G protein-coupled receptor activity, GO:0071880, GO:0071875, GO:0070474, GO:0045777, GO:0045666, GO:0043410, GO:0035624, GO:0032811, GO:0032148, GO:0030168, GO:0010700, GO:0010700, GO:0007565, GO:0007267, GO:0007186, GO:0007186, GO:0003056, GO:0000187, adenylate cyclase-activating adrenergic receptor signaling pathway, adrenergic receptor signaling pathway, positive regulation of uterine smooth muscle contraction, positive regulation of blood pressure, positive regulation of neuron differentiation, positive regulation of MAPK cascade, receptor transactivation, negative regulation of epinephrine secretion, activation of protein kinase B activity, platelet activation, negative regulation of norepinephrine secretion, negative regulation of norepinephrine secretion, female pregnancy, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, regulation of vascular associated smooth muscle contraction, activation of MAPK activity, 0 0 6 15 6 43 27 2 32 ENSG00000274290 chr6 26172059 26184655 + HIST1H2BE protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. The protein has antibacterial and antifungal antimicrobial activity. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8344 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005615, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, extracellular space, nucleosome, GO:0046982, GO:0042802, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, identical protein binding, protein binding, DNA binding, DNA binding, GO:0061844, GO:0050830, GO:0019731, GO:0016567, GO:0006334, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, antibacterial humoral response, protein ubiquitination, nucleosome assembly, nucleosome assembly, innate immune response in mucosa, 27 98 97 27 58 92 36 59 77 ENSG00000274292 chr12 121800797 121803403 + AC084018.2 lincRNA 23 27 49 32 10 35 20 9 24 ENSG00000274293 chr12 38150050 38150138 + RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274294 chr15 99416584 99417204 + AC015660.3 lincRNA 0 1 0 2 0 2 1 2 0 ENSG00000274295 chr8 53394215 53394795 + AC131902.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274297 chr15 70758269 70758856 - AC009269.5 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274299 chr7 57270839 57275197 + AC099654.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274300 chr17 4969702 4969771 - MIR6864 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465521 0 0 0 2 0 0 2 2 0 ENSG00000274303 chr11 120365666 120365963 + RF00100 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274306 chr19 49682117 49682195 + MIR5088 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847074 0 0 0 0 0 0 0 0 0 ENSG00000274307 chr15 25708470 25710869 - AC023449.2 sense_intronic 5 5 4 7 1 10 0 3 12 ENSG00000274308 chr17 37140611 37141424 - AC244093.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274309 chr20 38448084 38448215 + SNORA71E snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000274310 chr8 54467208 54470609 + AC091076.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274312 chr15 98319687 98320237 - AC015722.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274314 chr11 64902387 64902455 - MIR6749 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466727 1 1 0 0 0 0 0 0 0 ENSG00000274315 chr12 29331434 29331936 - AC009318.3 antisense 7 19 12 24 49 39 31 42 38 ENSG00000274316 chr13 53408882 53409876 - ZNF646P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274317 chr13 37934565 38048169 + LINC02334 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274319 chr7 6365441 6365770 + RPSAP73 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274321 chr1 88520000 88520170 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274322 chr20 1317571 1393096 - AL136531.2 protein_coding 4 5 4 2 3 0 0 0 1 ENSG00000274326 chr9 76779657 76779917 + AL359314.1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274328 chr7 35847038 35847426 - AC007551.2 processed_pseudogene 0 4 0 1 1 0 3 1 0 ENSG00000274330 chr14 70230224 70232426 + AL160191.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274331 chr13 109984858 109986565 - AL355974.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274333 chr21 5553637 5614880 + CU633967.1 lincRNA 102724219 0 0 0 0 0 0 0 0 0 ENSG00000274340 chr15 62387327 62388875 - AC032011.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274341 chr17 32408013 32408309 + AC005899.6 lincRNA 3 5 2 1 7 0 1 3 3 ENSG00000274342 chr22 27994474 27994654 + RF02200 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274343 chr8 85790382 85794399 - AC232323.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274344 chr7 117117912 117117983 + RF02181 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274346 chr2 238454908 238457520 + AC016999.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274347 chr15 19955300 19955602 - AC127381.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274349 chr9 66856426 66932141 + ZNF658 protein_coding 26149 GO:0005634, nucleus, GO:0046872, GO:0001228, GO:0000978, GO:0000976, metal ion binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, transcription regulatory region sequence-specific DNA binding, GO:0071294, GO:0045944, GO:0045892, GO:0042254, GO:0006357, cellular response to zinc ion, positive regulation of transcription by RNA polymerase II, negative regulation of transcription, DNA-templated, ribosome biogenesis, regulation of transcription by RNA polymerase II, 1 1 2 12 2 6 5 7 8 ENSG00000274350 chr15 72664577 72664799 + RN7SL853P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274351 chr13 49232874 49234399 + AL137000.1 unprocessed_pseudogene 0 1 1 1 1 8 3 1 0 ENSG00000274353 chr2 131821987 131822920 - AC103564.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274354 chr18 58511598 58512310 - AC105105.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274355 chr9 66976520 66976991 - FAM74A3 transcribed_processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000274356 chr9 136728953 136729855 - AL355987.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274357 chr13 45732082 45732356 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274363 chr17 4267691 4268430 + AC087742.1 lincRNA 0 0 0 0 1 0 0 2 0 ENSG00000274364 chr20 31535263 31535626 + AL110115.1 sense_intronic 3 0 2 0 1 4 2 0 0 ENSG00000274365 chrY 6789153 6789344 + AC013412.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274367 chr16 2981175 2981591 - AC004233.4 lincRNA 4 0 3 1 2 0 0 0 1 ENSG00000274369 chr14 19026521 19028189 - GRAMD4P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274370 chr17 83098377 83098987 + AC130371.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274372 chr1 148021850 148025931 + AC239803.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274373 chr12 132424504 132425208 - AC148476.1 lincRNA 0 0 0 0 0 0 6 0 0 ENSG00000274374 chrX 115424064 115425600 - AC239600.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274376 chr15 82298553 82334609 + ADAMTS7P1 transcribed_unprocessed_pseudogene 0 5 1 0 0 0 0 0 0 ENSG00000274378 chr17 60025859 60030746 + AC005702.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274379 chr14 94918253 94918734 - AL121612.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274380 chr19 52222020 52222098 + MIR6801 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466984 0 0 0 1 0 0 0 1 0 ENSG00000274381 chr22 22803076 22803360 + AC245028.3 unprocessed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000274383 chr15 64950916 64951435 - AC103691.1 antisense 159 210 188 487 508 542 419 299 301 ENSG00000274385 chr20 30713240 30713346 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274386 chr1 42785007 42816619 + TMEM269 protein_coding 100129924 GO:0016021, integral component of membrane, 16 28 9 17 21 31 8 22 18 ENSG00000274387 chr3 71567863 71571112 + AC097634.2 antisense 0 4 3 0 2 0 2 3 0 ENSG00000274390 chr19 6389638 6389703 - MIR6885 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465533 0 0 0 0 2 4 0 2 0 ENSG00000274391 chr21 10521553 10606140 + TPTE protein_coding This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. 7179 GO:0042995, GO:0016021, GO:0005886, GO:0005829, GO:0005634, cell projection, integral component of membrane, plasma membrane, cytosol, nucleus, GO:0016314, GO:0008138, GO:0004725, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity, protein tyrosine/serine/threonine phosphatase activity, protein tyrosine phosphatase activity, GO:0051896, GO:0048870, GO:0046856, GO:0035335, GO:0016311, GO:0014065, GO:0008285, GO:0007165, GO:0006470, regulation of protein kinase B signaling, cell motility, phosphatidylinositol dephosphorylation, peptidyl-tyrosine dephosphorylation, dephosphorylation, phosphatidylinositol 3-kinase signaling, negative regulation of cell population proliferation, signal transduction, protein dephosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000274395 chr12 107835541 107836555 - AC126177.8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274396 chr7 27099856 27099957 + RF01978 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274397 chr14 70556206 70557478 + AL357153.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274398 chrX 76250183 76251796 - AC233981.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274400 chr18 35144942 35145417 + AC015967.1 lincRNA 0 0 1 0 1 0 0 0 0 ENSG00000274403 chr15 42726583 42727211 + AC090510.2 antisense 1 0 0 1 1 0 3 1 3 ENSG00000274408 chr1 146539541 146539663 - RNA5SP536 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000274409 chr7 96965302 96965481 + RF01887 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274414 chr20 25239007 25245229 - AL121772.1 lincRNA 0 0 0 0 0 5 0 0 0 ENSG00000274415 chr1 147757185 147758434 + AC241644.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274417 chr19 12940484 12940540 + MIR6515 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466659 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000274419 chr17 38003976 38014902 + TBC1D3D protein_coding 101060389 GO:0005886, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 16 27 24 3 131 0 34 1 38 ENSG00000274420 chr3 47818005 47818128 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274421 chr9 70310875 70312120 + AL162390.1 sense_intronic 1 0 2 0 0 0 0 1 1 ENSG00000274422 chr22 22283928 22287220 - AC245060.5 lincRNA 2 18 9 4 43 17 8 16 4 ENSG00000274423 chr1 149345661 149357612 + SEC22B2 unprocessed_pseudogene 5 8 13 4 14 18 4 4 7 ENSG00000274424 chr15 30405307 30405597 - RN7SL196P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274425 chr19 10333436 10336248 + AC114271.1 antisense 10058 9669 12998 2759 5826 3789 3594 5617 4000 ENSG00000274427 chr12 123515275 123515513 - AC145423.2 sense_intronic 3 0 0 0 3 2 2 2 2 ENSG00000274428 chr1 146409903 146410062 + RF00003 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274430 chrX 73944332 73944466 + RF02124 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274432 chr17 43245674 43245864 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274441 chr5 36636019 36649347 - AC008957.2 antisense 0 0 0 0 0 2 0 0 0 ENSG00000274443 chr8 73241329 73259502 - C8orf89 protein_coding 100130301 0 0 0 0 0 0 0 0 0 ENSG00000274444 chr15 37109587 37109984 + AC078909.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274445 chrY 9868462 9868702 - AC006986.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274446 chr18 94202 94330 - AP001005.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274447 chr19 5294247 5294696 + AC005790.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274450 chr1 146862729 146862845 - RF00619 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274451 chr6 155004835 155005318 - AL136228.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274452 chr17 43290291 43290481 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274455 chr5 100062275 100067954 - AC092278.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274458 chr10 36438661 36438788 + RF00561 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000274459 chr12 68575858 68576136 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274460 chr16 21950218 21951708 - AC092119.2 lincRNA 8 11 11 5 4 5 0 4 0 ENSG00000274461 chr10 120819307 120825311 + AL391425.1 processed_transcript 105378516 0 0 0 0 0 0 0 0 0 ENSG00000274466 chr16 24203116 24203231 + MIR1273H miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466247 GO:0005615, extracellular space, 13 18 3 4 3 6 4 6 6 ENSG00000274467 chr8 20290174 20290289 + RNA5SP257 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274468 chr1 115479428 115481572 + AL512638.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274469 chr20 37571103 37583935 + LINC01746 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274471 chr15 23309607 23314566 + AC242376.2 transcribed_unprocessed_pseudogene 100132101 0 0 4 4 0 0 1 0 0 ENSG00000274472 chr5 154705626 154705727 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274475 chr14 21429508 21429806 - RN7SL650P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274478 chr16 86698118 86698841 + AC009154.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274481 chr1 1583510 1583909 - AL691432.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274484 chr21 7474394 7474494 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274486 chr11 95030549 95031245 + AP002383.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274487 chr17 38195703 38257192 - AC244154.1 transcribed_unprocessed_pseudogene 16 16 27 12 15 16 21 5 14 ENSG00000274489 chr8 36795255 36795862 - AC124076.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274491 chr20 58850530 58850641 + RF02130 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274492 chr14 88819608 88822151 - AL121768.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274493 chr6 127909833 127910052 + MRPS17P5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274494 chr6 31633787 31633858 + MIR6832 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466745 0 0 0 0 0 0 0 0 0 ENSG00000274499 chr15 20803505 20826173 - AC012414.7 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274500 chr7 130489868 130489966 + RF02150 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274501 chr20 63730072 63730377 - AL121845.4 antisense 1 5 2 0 0 0 2 0 0 ENSG00000274502 chrY 11173618 11173821 + ANKRD20A6P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274503 chr19 21592727 21593041 + AC123912.6 unprocessed_pseudogene 19 18 10 76 70 65 77 70 64 ENSG00000274505 chr16 11753666 11753948 - RF00017 misc_RNA 0 3 1 4 0 0 2 2 0 ENSG00000274507 chr20 25251008 25251304 - AL121772.2 antisense 0 0 0 0 0 0 4 0 0 ENSG00000274508 chr16 55425574 55426130 - AC007336.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274510 chr9 125417305 125417586 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274512 chr17 37977972 37989048 - TBC1D3L protein_coding 101060376 GO:0005886, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 53 63 3 10 8 6 6 3 2 ENSG00000274514 chr3 12576961 12577237 - RF00017 misc_RNA 1 4 2 0 4 0 10 5 4 ENSG00000274515 chr15 75645020 75645442 + AC105020.5 antisense 0 0 0 3 2 1 2 0 0 ENSG00000274516 chr9 60929774 60936746 + FAM74A6 transcribed_processed_pseudogene 653123 1 0 0 0 0 0 0 0 0 ENSG00000274520 chr2 44932320 44932406 + RF02246 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274523 chr7 75027122 75074228 - RCC1L protein_coding This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 81554 GO:0031966, GO:0005743, mitochondrial membrane, mitochondrial inner membrane, GO:0019843, GO:0005525, GO:0005515, GO:0005085, GO:0003723, rRNA binding, GTP binding, protein binding, guanyl-nucleotide exchange factor activity, RNA binding, GO:1990613, GO:0070131, mitochondrial membrane fusion, positive regulation of mitochondrial translation, 28 26 21 49 32 93 36 32 57 ENSG00000274525 chr5 181291673 181295572 + AC008443.6 unprocessed_pseudogene 10 49 72 5 55 37 3 42 26 ENSG00000274528 chr15 52017167 52018032 - AC090970.2 sense_intronic 0 0 1 103 113 157 90 85 130 ENSG00000274529 chr17 28364268 28365244 - SEBOX protein_coding Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]. 645832 GO:0005634, GO:0005575, nucleus, cellular_component, GO:0003677, GO:0000981, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, GO:0048477, GO:0009792, GO:0006357, oogenesis, embryo development ending in birth or egg hatching, regulation of transcription by RNA polymerase II, 0 2 0 0 2 0 0 0 0 ENSG00000274532 chr15 28422172 28422373 + AC091304.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274535 chr4 158909373 158909450 - RF00157 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000274536 chrX 66015461 66020422 + AL034397.3 antisense 3137 1826 5483 471 790 1047 539 667 927 ENSG00000274541 chr6 11015586 11015888 + AL121955.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274544 chr11 62854621 62854695 - SNORD28 snoRNA 9300 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000274547 chr2 44938833 44939028 + RF02251 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274549 chr13 37139176 37139585 - AL356274.1 unprocessed_pseudogene 3 2 6 3 1 10 2 3 13 ENSG00000274551 chr12 11516425 11521686 - AC007450.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274552 chr22 41252992 41253050 - MIR6889 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466758 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000274553 chr5 181329049 181331839 - AC138035.3 processed_pseudogene 67 51 3 23 58 3 1 7 24 ENSG00000274554 chr12 116948738 116951422 - AC083806.2 antisense 0 4 2 0 3 0 0 6 10 ENSG00000274559 chr21 5972924 5973383 - H2BFS protein_coding 102724334 0 0 0 0 0 0 0 0 0 ENSG00000274560 chr12 101696002 101696450 - AC010205.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274561 chr17 68131462 68131907 + AC005332.3 lincRNA 25 36 36 23 32 39 25 26 35 ENSG00000274562 chr1 160776975 160780140 - AL121985.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274565 chr17 62626437 62627590 - AC080038.1 antisense 0 0 0 1 3 1 1 2 3 ENSG00000274568 chr15 22429200 22429489 - RN7SL545P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274569 chr12 56413647 56414045 - AC024884.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274570 chr7 73104201 73111140 - SPDYE10P transcribed_unprocessed_pseudogene 0 0 1 2 1 0 1 0 0 ENSG00000274572 chr8 137424904 137425021 - ZYXP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274576 chr14 106770577 106771020 - IGHV2-70 IG_V_gene 2 0 0 3 0 0 0 1 0 ENSG00000274578 chr18 28146233 28146703 - AC006249.1 sense_intronic 0 0 0 0 0 4 0 0 0 ENSG00000274579 chrX 147476324 147476446 + AL096861.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274582 chr1 28580920 28581056 - SNORA16A snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000274583 chr9 61205258 61212373 + FAM74A4 transcribed_processed_pseudogene 401508 GO:0005515, protein binding, 0 0 0 0 4 0 0 0 0 ENSG00000274584 chr11 106824025 106824954 + AP001282.2 unprocessed_pseudogene 1 0 0 2 0 2 0 0 4 ENSG00000274585 chr17 43233787 43233977 - RNU2-1 snRNA The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009]. 6066 GO:0005686, U2 snRNP, GO:0045131, pre-mRNA branch point binding, GO:0000348, mRNA branch site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000274588 chrX 50365409 50470738 - DGKK protein_coding The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]. 139189 GO:0005886, GO:0005886, GO:0005737, plasma membrane, plasma membrane, cytoplasm, GO:0046872, GO:0005524, GO:0004143, GO:0004143, GO:0003951, metal ion binding, ATP binding, diacylglycerol kinase activity, diacylglycerol kinase activity, NAD+ kinase activity, GO:0046834, GO:0046339, GO:0046339, GO:0035556, GO:0035556, GO:0030168, GO:0007205, GO:0006979, lipid phosphorylation, diacylglycerol metabolic process, diacylglycerol metabolic process, intracellular signal transduction, intracellular signal transduction, platelet activation, protein kinase C-activating G protein-coupled receptor signaling pathway, response to oxidative stress, 2 3 0 7 13 2 2 9 2 ENSG00000274589 chr11 18538885 18539189 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274591 chr12 46239106 46239473 - AC025031.3 sense_intronic 0 0 1 2 4 6 3 3 0 ENSG00000274594 chr6 138464099 138464383 + AL391669.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274598 chr12 108833721 108834384 - AC087893.1 sense_intronic 4 0 2 2 6 2 5 3 0 ENSG00000274599 chr10 133670450 133671718 + DUX4L24 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274600 chr22 21383374 21389478 + RIMBP3B protein_coding 440804 GO:0045202, GO:0005737, GO:0005634, GO:0002177, synapse, cytoplasm, nucleus, manchette, GO:0030156, benzodiazepine receptor binding, GO:0009566, GO:0007286, GO:0007274, fertilization, spermatid development, neuromuscular synaptic transmission, 0 0 0 0 0 0 0 0 0 ENSG00000274601 chrX 135710095 135710377 - AC240442.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274602 chr22 18533646 18577968 - PI4KAP1 transcribed_unprocessed_pseudogene 728233 GO:0016020, GO:0005886, GO:0005737, membrane, plasma membrane, cytoplasm, GO:0052742, GO:0004430, phosphatidylinositol kinase activity, 1-phosphatidylinositol 4-kinase activity, GO:0048015, GO:0046854, phosphatidylinositol-mediated signaling, phosphatidylinositol phosphorylation, 215 37 146 257 44 180 251 14 147 ENSG00000274603 chr6 99526097 99526205 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274605 chr13 100086031 100088848 - AL355338.1 lincRNA 105370333 0 0 0 0 0 0 2 0 0 ENSG00000274606 chr7 116959593 116959805 + RF02190 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274607 chr17 38755279 38755400 - RNU6-866P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274611 chr17 38181659 38192541 - TBC1D3 protein_coding 729873 GO:0031901, GO:0005886, early endosome membrane, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:1902017, GO:0090630, GO:0006886, regulation of cilium assembly, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000274612 chr19 20087013 20087576 - AC011447.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274614 chr13 111182111 111182692 - AL390754.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274615 chr17 38078262 38124770 + AC233968.1 unprocessed_pseudogene 6 29 4 16 35 17 10 38 3 ENSG00000274617 chr22 32362972 32363059 + RF02171 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274618 chr6 26240426 26240737 + HIST1H4F protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8361 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 0 0 1 0 0 0 0 0 0 ENSG00000274620 chr17 37614931 37615039 - MIR378J miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465136 0 0 0 0 0 0 0 0 0 ENSG00000274621 chr17 40193597 40193663 + MIR6867 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465523 2 0 0 0 0 1 3 1 0 ENSG00000274624 chr12 22104491 22105320 - AC007671.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274625 chr22 18605355 18605497 + RF00492 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000274628 chr9 66047084 66055006 - AL669942.1 processed_transcript 105379252 0 0 0 1 0 0 0 0 0 ENSG00000274629 chr2 224464682 224474500 + AC073052.2 antisense 248 198 289 191 306 247 201 239 217 ENSG00000274630 chr17 41867581 41867736 + AC125257.2 antisense 57 52 58 38 58 53 26 43 46 ENSG00000274631 chrX 127623410 127623530 - AL662814.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274632 chr15 28703554 28703790 - RN7SL719P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274637 chr7 155106062 155106400 - AC092628.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274640 chr15 25041974 25042040 + SNORD109A snoRNA This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]. 338428 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000274641 chr6 27893463 27893843 + HIST1H2BO protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8348 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000786, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleosome, GO:0046982, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, DNA binding, GO:0016567, GO:0006334, GO:0006334, protein ubiquitination, nucleosome assembly, nucleosome assembly, 6 10 6 5 1 16 9 11 2 ENSG00000274642 chr1 120197085 120319680 + AC244669.2 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000274647 chr12 91632912 91633023 - RF02110 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274649 chr14 19511244 19511712 + AL512624.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274652 chr13 51180178 51180967 + AL157817.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274653 chr16 30359825 30360336 + AC106782.6 antisense 115 107 119 81 105 137 81 62 105 ENSG00000274654 chr15 48528980 48529728 - AC022467.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274655 chrX 73821657 73821724 - RF02266 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274656 chr7 72841437 72841727 - RN7SL625P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274658 chr17 36450146 36457535 - TBC1D3J unprocessed_pseudogene 100510707 0 0 0 0 0 0 0 0 0 ENSG00000274659 chr12 2740093 2742855 + LINC02371 lincRNA 107984539 0 0 0 0 0 0 0 0 0 ENSG00000274660 chr10 100666695 100667009 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274662 chr21 25101132 25101415 + RN7SKP236 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274663 chr17 38144201 38144287 - RNA5SP526 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000274664 chr11 72562044 72562554 + AP005019.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274666 chr14 68113706 68114144 - AL133370.2 unprocessed_pseudogene 0 1 0 0 0 0 0 1 0 ENSG00000274667 chr15 56729932 56730611 - AC090517.2 sense_intronic 1 0 1 0 2 6 1 0 2 ENSG00000274670 chr12 132083540 132083779 - AC137590.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274677 chr16 84085979 84086590 - AC040169.3 sense_intronic 3 1 4 0 4 3 5 1 0 ENSG00000274678 chr16 30821338 30821884 + AC106886.3 lincRNA 5 8 10 8 7 18 6 4 14 ENSG00000274680 chr9 41292887 41294125 + MYO5BP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274682 chr12 40978744 40979244 + AC015540.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274685 chr10 133374736 133374869 - AL360181.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274686 chr10 77966173 77966440 + RF00017 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000274688 chr9 41700480 41700696 - AL591926.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274691 chr10 95173085 95173187 - AL157834.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274693 chr4 3069977 3070151 + RF02135 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274695 chr12 128826836 128827579 + AC108704.1 lincRNA 16 21 8 1 5 5 4 2 4 ENSG00000274697 chr12 111799834 111799905 + MIR6761 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465456 0 0 0 0 0 0 0 0 0 ENSG00000274698 chr16 68450283 68452318 + AC099521.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274701 chr8 94655911 94656208 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274702 chr1 187632166 187632439 + AL357559.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274704 chr14 49913493 49913760 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274705 chr8 41660441 41660508 - MIR486-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 619554 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000274709 chr7 97013925 97014066 - RF01778 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274711 chr2 130517049 130517312 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274712 chr17 68205489 68207493 + AC005332.4 lincRNA 9 31 25 33 13 52 28 21 26 ENSG00000274713 chr19 11495544 11495622 - MIR7974 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465856 0 0 0 0 1 0 0 0 0 ENSG00000274716 chr5 179492076 179492157 - RF00015 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274717 chr22 42791814 42794313 - AL049757.1 processed_pseudogene 7 19 7 13 19 21 18 19 27 ENSG00000274718 chr13 107870383 107873372 + AL136964.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274719 chr15 57990217 57990636 - AC012653.2 sense_intronic 0 0 0 0 0 1 0 0 1 ENSG00000274721 chr5 142318047 142318167 + RF02039 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274723 chr12 46970504 46972155 + AC079906.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274727 chr20 64327418 64327972 - AL137028.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274730 chr16 20618205 20620758 - AC141273.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274732 chr3 116921328 116921479 + RF01884 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274736 chr17 36013056 36017968 - CCL23 protein_coding This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]. 6368 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0031726, GO:0008201, GO:0008009, GO:0008009, CCR chemokine receptor binding, CCR1 chemokine receptor binding, heparin binding, chemokine activity, chemokine activity, GO:2001264, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0048247, GO:0043547, GO:0030593, GO:0008285, GO:0007267, GO:0007186, GO:0007186, GO:0007165, GO:0006955, GO:0006954, GO:0006935, GO:0006874, GO:0002548, GO:0002548, negative regulation of C-C chemokine binding, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, negative regulation of cell population proliferation, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, immune response, inflammatory response, chemotaxis, cellular calcium ion homeostasis, monocyte chemotaxis, monocyte chemotaxis, 0 4 1 0 0 0 0 0 0 ENSG00000274737 chr12 47817451 47817966 - AC004466.2 sense_intronic 6 5 11 0 6 3 7 0 0 ENSG00000274740 chr11 2871437 2871498 + AC013791.1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274742 chr10 101912998 101913279 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274744 chr18 46962768 46964408 - ELOA3D protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000274747 chr17 18840618 18840920 + RN7SL627P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274748 chr17 21678086 21678418 + AC233702.9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274749 chr21 30829039 30829759 - KRTAP7-1 protein_coding 337878 GO:0005882, intermediate filament, GO:0005515, protein binding, 0 0 0 3 0 0 0 0 0 ENSG00000274750 chr6 26224199 26227473 + HIST1H3E protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8353 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nuclear chromosome, GO:0046982, GO:0045296, GO:0005515, GO:0003677, protein heterodimerization activity, cadherin binding, protein binding, DNA binding, GO:0060968, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0032200, GO:0007596, GO:0006335, GO:0006334, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, telomere organization, blood coagulation, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 8 7 19 4 12 7 3 8 14 ENSG00000274751 chr16 1305547 1309413 - AC120498.9 antisense 1 1 0 0 0 1 0 0 0 ENSG00000274752 chr7 142560423 142560931 + TRBV12-3 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000274755 chr9 115734392 115734491 + RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274756 chr17 36574462 36575325 - AC243732.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274758 chr17 2366589 2366791 - AC006435.3 antisense 0 7 4 0 2 4 2 1 0 ENSG00000274759 chr4 67439992 67440118 + RNA5SP527 rRNA 0 0 0 0 0 0 2 0 0 ENSG00000274760 chr20 49279116 49279208 + RF02216 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274762 chr14 28818741 28819258 + AL049777.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274764 chr1 13049476 13056491 - PRAMEF27 protein_coding 101929983 GO:0005737, cytoplasm, GO:0045892, GO:0045596, GO:0043066, GO:0008284, negative regulation of transcription, DNA-templated, negative regulation of cell differentiation, negative regulation of apoptotic process, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000274765 chr15 55343141 55343575 - AC018926.1 sense_intronic 18 25 23 24 53 25 32 30 22 ENSG00000274766 chr13 113883667 113885335 + BX072579.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274767 chr17 36183235 36196471 + AC243829.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274769 chr2 61115787 61164825 + AC016747.4 processed_transcript 0 0 0 0 0 2 0 0 0 ENSG00000274770 chr11 56743873 56743981 + MIR6128 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465135 0 0 0 0 0 0 0 0 0 ENSG00000274772 chr8 144683169 144683464 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274775 chrX 130445085 130524257 - Z82195.2 transcribed_unprocessed_pseudogene 1 0 2 0 1 2 0 2 0 ENSG00000274776 chr18 46786699 46789297 - AC090241.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274777 chr19 56848068 56848204 + AC004792.1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274790 chr21 6223480 6223580 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274791 chrX 155382115 155383230 + F8A2 protein_coding This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]. 474383 GO:0016604, GO:0005769, GO:0005769, GO:0005634, nuclear body, early endosome, early endosome, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1901799, GO:0099518, GO:0099518, negative regulation of proteasomal protein catabolic process, vesicle cytoskeletal trafficking, vesicle cytoskeletal trafficking, 2 7 2 1 0 0 1 1 0 ENSG00000274797 chr12 50953924 50954356 - AC008121.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274798 chr15 40874433 40874595 + AC025166.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274799 chr5 148389748 148390029 + RF00017 misc_RNA 0 3 10 2 0 6 0 0 0 ENSG00000274800 chr19 19978190 19979610 - AC007204.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274805 chr16 2463967 2464038 + MIR6768 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465460 0 0 0 0 0 0 0 0 0 ENSG00000274808 chr17 36165681 36176636 - TBC1D3B protein_coding This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009]. 414059 GO:0005886, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000274809 chr10 3991160 3991259 + MIR6078 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464829 0 0 0 0 0 0 0 0 0 ENSG00000274810 chr3 132558142 132722459 - NPHP3-ACAD11 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000274813 chr5 178825382 178825571 + AC126915.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274814 chr15 28494975 28495182 - AC138749.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274816 chr16 57772289 57772352 - MIR6772 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465463 0 0 0 0 0 0 0 0 0 ENSG00000274817 chr12 53968002 53968178 + AC012531.3 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274818 chr14 70906657 70907111 - AC004825.2 lincRNA 14 9 17 7 13 31 8 7 14 ENSG00000274819 chr12 97532691 97532958 + RF01968 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274820 chr9 66979460 66979862 + AL353770.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274822 chr12 113291523 113291608 + MIR6762 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465457 0 0 0 0 0 0 0 0 6 ENSG00000274823 chr12 56376818 56377331 - APONP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274824 chr10 71790747 71790800 + MIR7152 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465689 0 1 6 3 1 0 1 1 2 ENSG00000274825 chr20 38955910 38956547 + AL023803.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274827 chr14 19344578 19384587 - LINC01297 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274828 chr18 79677287 79679358 - AC068473.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274832 chr5 17669283 17669518 - AC233724.12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274833 chr17 81387415 81387766 + AC110285.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274834 chr16 12614451 12614852 + AC010333.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274835 chr15 22360639 22360918 + AC100757.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274836 chr17 17676211 17676371 + RF02178 misc_RNA 0 0 0 2 0 0 0 0 0 ENSG00000274837 chrY 19932130 19932500 - AC009233.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274838 chr18 10759584 10759649 - MIR6788 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466735 0 0 0 0 0 0 0 0 0 ENSG00000274840 chr3 18013226 18041603 + AC132807.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274841 chr9 137638128 137638408 - RF00017 misc_RNA 0 0 0 0 1 0 0 0 0 ENSG00000274844 chr6 60826185 60826533 - AL512427.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274845 chr2 191682452 191682633 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274848 chr16 30816030 30816302 + RF00017 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000274849 chr18 36189824 36190272 + AC023043.4 sense_intronic 0 0 0 0 0 0 0 1 0 ENSG00000274852 chr9 67175775 67176035 - RN7SL422P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274855 chr6 3033183 3033288 + AL133351.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274859 chr12 118066398 118066725 + AC131238.1 antisense 1 4 7 5 10 6 6 1 3 ENSG00000274860 chr17 6521131 6521412 + RF00017 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000274862 chr17 43277978 43278168 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000274863 chr20 19000709 19056796 - AL135936.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274864 chr7 27099778 27099836 + RF01977 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274866 chr11 1997484 1997552 + RF01973 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274867 chr6 49115537 49116115 + AL589994.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274868 chr21 8388898 8388987 + RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274874 chr12 123973944 124088594 + AC068790.8 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000274878 chr13 50049591 50049663 + RF02107 misc_RNA 3 4 1 10 10 14 7 17 8 ENSG00000274879 chr12 114929757 114929935 - AC009804.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274883 chr17 45931806 45932083 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274884 chr14 100826284 100826370 + AL117190.3 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274885 chr12 22638464 22638943 + AC087241.4 sense_intronic 1 4 0 6 2 11 7 4 18 ENSG00000274886 chr1 227980051 227980227 + SEPT14P17 unprocessed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000274892 chr19 53512092 53512616 - AC011487.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274893 chr9 66014525 66020816 - AL136317.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274895 chr1 213983793 213986419 - AC011700.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274897 chr11 797511 799190 + PANO1 protein_coding 0 2 0 2 11 0 0 1 3 ENSG00000274898 chr13 77027944 77028482 + AC001226.1 lincRNA 2 2 3 0 3 0 0 0 0 ENSG00000274899 chrY 25174520 25175237 + AC006386.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274901 chrX 126502867 126503155 - Z69908.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274902 chr12 47731908 47732351 + AC004241.2 lincRNA 6 2 5 0 17 0 1 5 4 ENSG00000274903 chr6 160773988 160783214 + AL109933.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274904 chr16 30064306 30064825 - AC093512.1 antisense 18 13 15 39 17 60 14 13 25 ENSG00000274911 chr9 67725890 67726544 + AL627230.2 unprocessed_pseudogene 1 2 0 2 1 0 2 3 8 ENSG00000274915 chr20 63102142 63102259 + RF00635 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000274918 chr18 35317396 35317848 + AC116447.1 lincRNA 0 0 1 0 1 4 0 0 0 ENSG00000274919 chr9 114774737 114775120 - AL390240.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274922 chr13 112686769 112689815 - AL139384.1 lincRNA 39 37 57 4 24 20 27 12 3 ENSG00000274923 chrX 7896514 7896722 - AC005296.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274925 chr16 25257952 25261066 + ZKSCAN2-DT lincRNA 21 21 25 26 31 30 49 17 20 ENSG00000274927 chr1 143461221 143498767 - AC239859.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274928 chr12 52341197 52354036 + KRT89P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274929 chr13 48532013 48532599 - AL157813.1 sense_intronic 14 7 5 7 4 8 1 3 4 ENSG00000274930 chr18 50318420 50319024 + AC105227.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274932 chr9 123485529 123485622 - MIR7150 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465688 0 0 0 0 0 0 0 0 0 ENSG00000274933 chr17 36253456 36264553 - TBC1D3I protein_coding 102724862 GO:0005886, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000274934 chr5 136134082 136134248 + RF02176 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274937 chr15 74374678 74375511 + AC090826.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000274940 chr1 153689705 153689793 - MIR8083 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466879 0 0 0 0 0 0 0 0 0 ENSG00000274943 chr12 42361267 42361703 + AC079684.1 sense_intronic 9 10 4 16 5 17 9 9 4 ENSG00000274944 chr1 38864501 38881617 - GJA9-MYCBP protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000274949 chr20 3811384 3823882 + AL109804.1 processed_transcript 0 0 0 0 0 0 0 0 7 ENSG00000274954 chr15 51833134 51833426 + AC090971.5 sense_intronic 0 0 0 1 0 0 3 0 0 ENSG00000274956 chr8 62977861 62984900 + NKAIN3-IT1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000274959 chr7 75281267 75287118 + SPDYE13P unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000274962 chrX 154196471 154213487 - TEX28P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274963 chr1 150568971 150569269 - RN7SL600P misc_RNA 32 53 34 23 63 49 51 50 39 ENSG00000274964 chr12 32339368 32340724 + AC026356.1 sense_intronic 0 1 1 0 0 0 1 0 0 ENSG00000274966 chr15 30395146 30396368 + AC019322.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274967 chr3 53290640 53290751 + RF00019 misc_RNA 6 2 1 3 4 0 2 2 0 ENSG00000274969 chr16 50292616 50292675 + MIR6771 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465462 0 0 0 0 0 0 0 0 0 ENSG00000274970 chr7 12439419 12440404 - AC013470.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274973 chr20 25845497 25845862 + BSNDP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274975 chr1 43448539 43448611 + MIR6735 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465440 0 0 0 0 0 0 0 0 0 ENSG00000274976 chr12 32820142 32820567 - AC087588.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274977 chr2 240701204 240701685 - AC011298.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000274978 chr1 28648600 28648733 + RNU11 snRNA 26824 GO:0005692, U11 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 0 0 0 1 0 ENSG00000274979 chr12 69326574 69331882 - AC020656.2 lincRNA 4 4 3 3 2 0 4 1 0 ENSG00000274984 chr7 73067231 73067332 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000274985 chr10 29421476 29422012 - PTCHD3P1 unprocessed_pseudogene 0 0 3 10 2 5 0 1 0 ENSG00000274986 chr11 64898363 64898437 - MIR6750 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466192 9 13 2 11 20 15 6 7 6 ENSG00000274987 chr12 25210652 25211233 + AC092794.1 antisense 17 18 14 6 17 15 8 10 13 ENSG00000274988 chr8 25345402 25345474 + MIR6876 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465527 0 0 1 2 7 8 1 6 0 ENSG00000274993 chr7 100963828 100968124 - AC254629.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274994 chr5 173347455 173347536 + MIR8056 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465862 0 0 0 0 0 0 0 0 0 ENSG00000274995 chr15 66740445 66741151 + AC013564.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000274996 chr17 38601049 38602701 + AC006449.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000274997 chr6 27147129 27147515 + HIST1H2AH protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]. 85235 GO:0070062, GO:0000786, GO:0000785, extracellular exosome, nucleosome, chromatin, GO:0046982, GO:0003677, GO:0003674, protein heterodimerization activity, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 0 0 2 0 0 0 0 1 0 ENSG00000274998 chr9 136726747 136726879 - SNORA17A snoRNA 677804 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000274999 chr11 130666735 130666803 + MIR8052 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466873 0 0 0 0 0 0 0 0 0 ENSG00000275001 chr10 16767235 16767416 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275002 chr14 31964550 31965095 + AL352984.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275004 chr22 22484421 22509154 - ZNF280B protein_coding The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]. 140883 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000275005 chr10 129845328 129845895 + AL354950.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275006 chr17 38089399 38089500 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275011 chr17 8063936 8072533 + AC129492.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275012 chr19 54948864 54948993 + AC011476.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275014 chr13 19736975 19737254 - RN7SL166P misc_RNA 0 0 0 0 0 3 0 0 3 ENSG00000275015 chr10 88259129 88259372 - AL353149.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275016 chr15 95638346 95825451 + AC015574.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275017 chr9 88391362 88391832 - AL353748.2 processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000275022 chr11 68044794 68044957 + MIR6753 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465451 50 34 61 23 27 45 19 20 18 ENSG00000275023 chr17 38705542 38729803 + MLLT6 protein_coding 4302 GO:0005634, nucleus, GO:0046872, GO:0042393, GO:0042393, GO:0031491, GO:0031491, GO:0005515, metal ion binding, histone binding, histone binding, nucleosome binding, nucleosome binding, protein binding, GO:2001161, GO:0045944, GO:0036359, GO:0035812, GO:0035811, GO:0010765, GO:0006355, negative regulation of histone H3-K79 methylation, positive regulation of transcription by RNA polymerase II, renal potassium excretion, renal sodium excretion, negative regulation of urine volume, positive regulation of sodium ion transport, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 1 ENSG00000275024 chr10 114280725 114281258 - AC005383.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275025 chr17 50098460 50098899 - AC002401.3 antisense 0 2 0 0 0 0 0 0 0 ENSG00000275026 chr9 66022661 66027719 - GXYLT1P4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000275029 chr17 37143607 37144463 - HMGB1P24 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275030 chr9 66142221 66142327 - RNU6-538P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275033 chr14 95662480 95662598 + RF02192 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275034 chr16 33303739 33306935 + TP53TG3E protein_coding 102724101 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000275036 chr10 28289258 28289350 - MIR8086 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465880 0 1 0 0 0 0 0 0 0 ENSG00000275038 chr5 171305980 171309777 - AC091980.2 antisense 0 0 0 10 0 0 0 0 0 ENSG00000275040 chr16 79619469 79620110 + AC009159.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275041 chr8 100897853 100898136 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275043 chr11 62855564 62855632 - SNORD25 snoRNA 9303 0 0 0 0 0 0 0 0 0 ENSG00000275046 chr6 58386799 58386961 + AL603755.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275048 chr20 25783553 25783919 + BSNDP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275052 chr2 55547292 55618880 - PPP4R3B protein_coding 57223 GO:0030289, GO:0016607, GO:0005813, GO:0005737, GO:0005654, protein phosphatase 4 complex, nuclear speck, centrosome, cytoplasm, nucleoplasm, GO:0045722, GO:0019216, GO:0006470, positive regulation of gluconeogenesis, regulation of lipid metabolic process, protein dephosphorylation, 1099 1077 1279 757 959 951 737 763 753 ENSG00000275054 chr7 117184126 117184199 + RF02183 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275055 chr19 52049007 52049754 + AC011468.5 antisense 1 6 2 14 15 3 4 2 5 ENSG00000275056 chr16 4839244 4840334 - AC020663.3 sense_intronic 12 24 26 68 70 102 57 48 75 ENSG00000275060 chr22 18400407 18404206 - PPP1R26P3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275061 chr7 57067950 57074664 - AC122133.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275064 chr1 145509047 145520594 + AC239860.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275066 chr17 37514797 37609496 - SYNRG protein_coding This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 11276 GO:0030130, GO:0030121, GO:0005794, GO:0005737, clathrin coat of trans-Golgi network vesicle, AP-1 adaptor complex, Golgi apparatus, cytoplasm, GO:0005515, protein binding, GO:0006897, GO:0006886, endocytosis, intracellular protein transport, 67 124 11 25 37 34 55 46 121 ENSG00000275067 chr3 127575266 127575331 - MIR6825 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466199 0 0 0 0 0 0 0 0 0 ENSG00000275068 chr9 64082429 64082534 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275069 chr20 58850783 58850903 + RF02131 misc_RNA 0 0 0 0 0 0 0 0 3 ENSG00000275070 chrX 129796491 129796783 - RF00017 misc_RNA 29 20 42 16 38 42 32 40 37 ENSG00000275071 chr13 55128285 55128444 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275072 chr6 85677589 85677658 - SNORD50B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000275074 chr8 22106872 22109419 - NUDT18 protein_coding The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]. 79873 GO:0005829, cytosol, GO:0044717, GO:0044717, GO:0044716, GO:0044716, GO:0044715, GO:0044715, GO:0044715, GO:0005515, GO:0000287, GO:0000287, 8-hydroxy-dADP phosphatase activity, 8-hydroxy-dADP phosphatase activity, 8-oxo-GDP phosphatase activity, 8-oxo-GDP phosphatase activity, 8-oxo-dGDP phosphatase activity, 8-oxo-dGDP phosphatase activity, 8-oxo-dGDP phosphatase activity, protein binding, magnesium ion binding, magnesium ion binding, GO:0046712, GO:0046067, GO:0046057, GO:0034656, GDP catabolic process, dGDP catabolic process, dADP catabolic process, nucleobase-containing small molecule catabolic process, 46 38 54 18 10 47 20 27 50 ENSG00000275075 chr1 144168752 144168850 + AC244015.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275078 chr8 139508701 139508971 - AC090093.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275084 chr17 2329016 2329237 - SNORD91B snoRNA 0 0 2 0 0 0 0 0 0 ENSG00000275088 chr16 85142696 85146001 - AC026469.1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000275090 chr3 33103008 33103306 + RN7SL296P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275091 chr19 14006422 14006773 + AC022098.4 antisense 2 2 1 10 14 18 2 5 0 ENSG00000275092 chr16 1707252 1707973 + AL031710.2 sense_intronic 5 1 0 5 1 12 2 1 5 ENSG00000275094 chr2 97000436 97001593 - AC079395.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275097 chr12 31280422 31280895 - AC024940.5 3prime_overlapping_ncRNA 0 0 0 0 0 0 0 0 0 ENSG00000275101 chr15 89326739 89326810 - MIR6766 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466983 0 0 0 0 0 0 0 0 0 ENSG00000275103 chr8 89826593 89833564 + AF117829.2 unprocessed_pseudogene 0 0 1 0 0 2 1 0 0 ENSG00000275106 chr7 128952527 128953316 - AC025594.2 TEC 0 2 4 4 13 8 4 5 3 ENSG00000275107 chr17 44207771 44207839 - MIR6782 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465469 0 0 0 0 0 0 0 0 0 ENSG00000275108 chr3 98987387 98987449 + RF00066 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275109 chr16 81611348 81611408 + MIR6504 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465251 0 0 0 0 0 0 0 0 0 ENSG00000275110 chrX 109054542 109054590 + MIR6087 miRNA 0 1 0 0 2 0 0 0 0 ENSG00000275111 chr2 95165432 95184317 + ZNF2 protein_coding The protein encoded by this gene belongs to the C2H2-type zinc-finger protein family. The exact function of this gene is not known, however, zinc-finger proteins are known to interact with DNA and function as transcription regulators. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. 7549 GO:0005634, nucleus, GO:0008270, GO:0005515, GO:0000981, GO:0000978, zinc ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 4 1 11 9 4 1 9 8 7 ENSG00000275113 chrX 49341192 49345922 + GAGE2E protein_coding 729428 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000275115 chr8 27010486 27010746 + AC067904.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275119 chr12 11212219 11251389 + AC244131.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275120 chr15 84597809 84633987 - AC048382.5 antisense 14 11 7 11 11 15 16 13 7 ENSG00000275121 chr7 75237293 75237405 - AC211486.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275126 chr6 27873199 27873510 - HIST1H4L protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8368 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 0 0 0 0 0 0 0 0 0 ENSG00000275127 chr15 25089923 25090014 + SNORD116-22 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000275128 chr8 70480192 70480487 - RN7SL203P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275129 chr1 121314947 121315055 - AC243994.1 processed_pseudogene 0 4 0 0 0 0 0 0 0 ENSG00000275130 chr9 11618496 11618621 - AL592227.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275131 chr1 120489860 120701289 - AC241952.1 transcribed_unprocessed_pseudogene 28 32 43 61 30 45 74 26 41 ENSG00000275132 chr19 38200234 38200532 + RN7SL663P misc_RNA 1 0 2 0 1 0 0 0 0 ENSG00000275134 chr14 100898958 100899079 + RF02146 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275138 chr6 141019788 141020026 - AL357080.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275139 chr21 45759804 45763758 - AL133492.1 antisense 1 0 1 0 0 0 1 0 0 ENSG00000275140 chr1 148772640 148784594 - SEC22B3 unprocessed_pseudogene 0 0 0 0 2 5 0 0 3 ENSG00000275141 chr2 159186835 159186901 + MIR6888 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465535 0 0 0 0 0 0 0 0 0 ENSG00000275143 chr17 77089307 77089493 + SCARNA16 scaRNA 677781 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000275144 chr9 42923277 42924144 + SNX18P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275146 chr11 93721542 93721621 + RF00494 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000275152 chr17 35976493 35981496 - CCL16 protein_coding This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008]. 6360 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0042056, GO:0008009, GO:0005515, CCR chemokine receptor binding, chemoattractant activity, chemokine activity, protein binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0050918, GO:0048247, GO:0043547, GO:0030593, GO:0007267, GO:0007186, GO:0007186, GO:0007154, GO:0006954, GO:0006935, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, positive chemotaxis, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, cell communication, inflammatory response, chemotaxis, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000275154 chr14 91714915 91715130 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000275155 chr16 49847018 49847632 - AC027348.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275157 chr2 232368576 232368697 + AC068134.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275158 chr7 142580917 142581427 + TRBV12-5 TR_V_gene 0 0 1 2 0 0 0 0 2 ENSG00000275160 chr9 41479960 41480548 + AL354718.1 processed_pseudogene 0 3 0 0 1 0 0 0 0 ENSG00000275161 chr14 100816041 100816244 + RF01928 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275162 chr19 956485 958149 + AC005391.1 sense_intronic 7 7 10 6 2 5 4 11 0 ENSG00000275163 chr3 178419123 178843300 + AC117457.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000275166 chr21 41746772 41746841 - MIR6814 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465488 0 0 0 0 0 0 0 0 0 ENSG00000275167 chr21 45478266 45478326 + MIR6815 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465489 0 0 0 0 0 0 0 0 0 ENSG00000275170 chr21 14019060 14020725 - FRG2MP processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275173 chr17 37798894 37802788 - AC243571.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275174 chr15 21428879 21428985 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275175 chr15 92819598 92819992 + AC106028.5 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000275178 chr18 77093086 77093446 + AC018529.1 antisense 12 13 17 1 16 25 25 14 16 ENSG00000275179 chr20 23180176 23187544 + AL118508.2 lincRNA 0 15 4 0 8 0 0 7 0 ENSG00000275180 chr12 62603909 62604399 + AC048341.2 lincRNA 4 5 10 14 10 12 16 20 17 ENSG00000275183 chr19 54461796 54463711 - LENG9 protein_coding 94059 GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000275185 chr17 30899110 30899651 + AC130324.3 antisense 2 5 5 4 3 5 3 0 3 ENSG00000275186 chr18 79470120 79470940 - AC018445.1 antisense 0 0 1 0 0 2 0 2 0 ENSG00000275191 chr16 53628256 53628816 - AC007497.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275194 chrX 11221348 11225731 + AC004467.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275197 chr12 25225103 25225665 + AC092794.2 antisense 100 61 174 23 37 55 52 42 64 ENSG00000275198 chr14 90383365 90387973 + AL512791.2 lincRNA 7 8 4 18 15 22 15 14 1 ENSG00000275201 chr19 23479762 23480468 - AC074140.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275202 chr13 48974967 48976867 - AL161421.1 antisense 47 40 58 119 80 113 120 124 71 ENSG00000275206 chr17 18390153 18390323 - AL353997.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275207 chr1 202003124 202003236 + MIR6740 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465443 0 0 0 0 2 0 0 0 0 ENSG00000275208 chr11 47179611 47179737 - MIR6745 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466726 0 0 0 0 0 0 0 0 0 ENSG00000275210 chr19 54308915 54337168 - AC245884.11 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000275212 chr12 125983702 126043485 + AC005186.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275213 chr1 205684018 205684307 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275215 chr21 8395607 8395759 + RNA5-8SN2 rRNA 45S ribosomal DNA (rDNA) arrays, or clusters, are present on human chromosomes 13, 14, 15, 21 and 22, designated RNR1 through RNR5, respectively. Each cluster consists of multiple 45S rDNA repeat units that vary in number among individuals and chromosomes, with total diploid copy number estimates ranging from 60 to >800 repeat units in a human genome. The 45S rDNA repeat unit encodes a 45S rRNA precursor, transcribed by RNA polymerase I, which is processed to form the 18S, 5.8S and 28S rRNAs. This gene represents a copy of the 5.8S ribosomal RNA on chromosome 21. [provided by RefSeq, Mar 2017]. 109910381 0 0 0 0 0 0 0 1 1 ENSG00000275216 chr13 109269634 109278512 + AL161431.1 lincRNA 5 4 12 1 3 0 4 2 8 ENSG00000275219 chr17 43296425 43296615 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275221 chr6 27837947 27838339 - HIST1H2AK protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8330 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0019899, GO:0005515, GO:0003677, GO:0003674, protein heterodimerization activity, enzyme binding, protein binding, DNA binding, molecular_function, GO:0008150, GO:0006342, biological_process, chromatin silencing, 3 9 11 0 8 11 4 6 6 ENSG00000275222 chr20 8998849 8999100 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275223 chr20 33655701 33656423 - AL121906.2 lincRNA 0 0 0 0 0 1 1 0 3 ENSG00000275226 chr13 37534940 37551536 + LINC00547 lincRNA 400121 0 0 0 0 0 0 0 0 0 ENSG00000275227 chr3 25618132 25618312 - RF02271 misc_RNA 3 3 2 1 1 7 3 2 0 ENSG00000275228 chr12 48327942 48328472 - AC024257.5 lincRNA 0 0 2 0 0 3 0 0 0 ENSG00000275229 chr1 149700151 149700296 - RNU1-68P snRNA 0 0 0 0 0 0 0 0 1 ENSG00000275230 chr9 62363581 62363864 + RN7SL544P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275231 chr12 97493897 97494003 + RF01965 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275232 chr12 131447337 131455436 - AC073578.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275234 chr19 6469465 6470152 + AC010503.4 antisense 100 114 150 112 107 107 131 57 84 ENSG00000275236 chr16 74289593 74291052 - AC009120.5 lincRNA 0 0 0 9 3 0 0 0 5 ENSG00000275238 chr17 38702262 38702331 - MIR4734 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616203 0 0 0 0 0 0 0 0 0 ENSG00000275239 chr9 41657708 41699072 - FAM242F lincRNA 105379447 0 0 0 0 0 0 0 0 0 ENSG00000275243 chr7 142598016 142598469 + TRBV16 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000275248 chr13 109805317 109805868 + AL355810.1 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000275250 chr4 34714270 34714598 + AC093913.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275254 chrX 74280936 74281082 + RF02121 misc_RNA 2 0 0 2 0 0 0 2 2 ENSG00000275256 chr3 41189041 41189236 + MRPS31P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275259 chr16 14925937 14926003 + MIR6511A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466268 0 0 0 0 0 0 0 0 0 ENSG00000275263 chr16 30956872 30957199 - AC135048.3 lincRNA 1 2 0 0 2 0 0 2 0 ENSG00000275265 chr12 122501187 122501641 + AC127002.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000275266 chr11 1996540 1996610 + RF01972 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275268 chrX 140451148 140451208 + RF00066 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275273 chr17 42708084 42708151 - MIR6780A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466195 0 0 0 0 0 0 0 0 0 ENSG00000275278 chr12 29156448 29156991 - AC012150.2 antisense 4 7 8 5 16 4 8 6 3 ENSG00000275280 chrY 7656968 7657352 + AC007274.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275285 chr20 38378825 38383179 + AL391095.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275286 chr12 44498616 44499158 - AC025253.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275287 chrX 388100 388389 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275291 chr1 144523860 144524021 - RF00003 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275293 chr22 21555138 21555457 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275294 chr13 27178263 27251288 - LINC02340 lincRNA 0 3 2 0 5 0 5 2 4 ENSG00000275295 chr7 45303620 45304362 + AC073968.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275296 chr1 121058948 121059353 - AC241377.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275297 chr9 41760088 41764175 + AL162731.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000275302 chr17 36103590 36105621 + CCL4 protein_coding The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012]. 6351 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0042802, GO:0031730, GO:0031726, GO:0008009, GO:0005515, GO:0005125, CCR chemokine receptor binding, identical protein binding, CCR5 chemokine receptor binding, CCR1 chemokine receptor binding, chemokine activity, protein binding, cytokine activity, GO:2000503, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0051928, GO:0050850, GO:0048247, GO:0048245, GO:0043922, GO:0043547, GO:0030593, GO:0019221, GO:0009636, GO:0009615, GO:0007267, GO:0007186, GO:0007186, GO:0007165, GO:0007163, GO:0007155, GO:0006955, GO:0006954, GO:0002548, positive regulation of natural killer cell chemotaxis, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, positive regulation of calcium ion transport, positive regulation of calcium-mediated signaling, lymphocyte chemotaxis, eosinophil chemotaxis, negative regulation by host of viral transcription, positive regulation of GTPase activity, neutrophil chemotaxis, cytokine-mediated signaling pathway, response to toxic substance, response to virus, cell-cell signaling, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, signal transduction, establishment or maintenance of cell polarity, cell adhesion, immune response, inflammatory response, monocyte chemotaxis, 4 0 0 0 0 0 0 0 0 ENSG00000275305 chr20 30816156 30816274 - RNA5SP528 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000275307 chr22 30973417 30973597 + RF01892 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275310 chrY 9325799 9326047 + AC006158.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275312 chr10 45180400 45180616 + AL512324.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275314 chrX 36794500 36795460 - AC006924.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275315 chr16 20616409 20616532 - AC141273.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275318 chr9 92840955 92841688 - AL136981.2 unprocessed_pseudogene 9 2 2 12 1 8 7 7 3 ENSG00000275319 chr22 18524620 18524935 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275320 chrX 100815865 100817174 - Z95327.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275322 chr15 96342953 96345651 + AC103746.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275325 chr15 22727104 22744918 + PDCD6IPP1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275327 chr10 129837505 129837794 + AL354950.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275328 chr7 5031608 5037831 - SPDYE19P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275329 chr9 136122521 136124363 + AL138781.2 lincRNA 0 0 0 3 0 0 0 0 2 ENSG00000275332 chr15 64943240 64943672 - AC103691.2 antisense 6 3 10 10 28 19 14 12 6 ENSG00000275334 chr3 50227436 50227490 + MIR5787 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464817 0 0 0 0 0 0 0 0 0 ENSG00000275335 chrX 52336557 52336642 - MIR8088 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466880 0 0 0 0 0 0 0 0 0 ENSG00000275337 chr20 39349094 39349392 - RN7SL680P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275339 chr6 122454358 122454612 + Z99129.1 processed_pseudogene 6 14 8 4 6 17 4 7 1 ENSG00000275340 chr3 13933056 13937477 + FGD5P1 transcribed_unprocessed_pseudogene 100132526 2 1 1 0 0 1 0 0 0 ENSG00000275342 chr8 8317736 8386498 - PRAG1 protein_coding This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]. 157285 GO:0005925, GO:0005737, GO:0005634, focal adhesion, cytoplasm, nucleus, GO:0042802, GO:0005524, GO:0005515, GO:0004672, identical protein binding, ATP binding, protein binding, protein kinase activity, GO:2000145, GO:0035025, GO:0016477, GO:0010977, GO:0008593, GO:0008360, GO:0006468, regulation of cell motility, positive regulation of Rho protein signal transduction, cell migration, negative regulation of neuron projection development, regulation of Notch signaling pathway, regulation of cell shape, protein phosphorylation, 16 26 30 21 3 16 20 9 14 ENSG00000275343 chr15 56908312 56908635 - AC010999.1 sense_intronic 0 0 0 1 0 6 0 0 0 ENSG00000275344 chr11 60209071 60209156 - MIR6503 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465250 0 0 0 0 0 0 0 0 0 ENSG00000275345 chr15 90281858 90282270 + AC091167.5 lincRNA 0 1 0 0 0 0 0 0 0 ENSG00000275348 chr3 122482990 122483229 + AC096861.1 processed_pseudogene 1 2 1 0 0 0 0 0 0 ENSG00000275350 chr1 38383838 38384422 - AL513479.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275352 chrY 6273579 6274065 - AC006335.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275355 chr18 76840838 76841102 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275356 chr7 124777292 124790810 - C7orf77 protein_coding 154872 0 0 0 0 0 0 0 0 0 ENSG00000275358 chr20 25062962 25063591 - AL080312.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275359 chr7 116952698 116952813 + RF02179 misc_RNA 0 0 0 0 1 3 0 0 0 ENSG00000275360 chr17 76098019 76098076 - MIR6868 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466753 0 0 0 0 0 0 0 0 0 ENSG00000275361 chr22 22087924 22088085 + AC245517.5 unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000275362 chr22 18615581 18615900 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275363 chr15 22451209 22455154 + AC100757.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275367 chr12 8217758 8221115 + AC092111.1 lincRNA 1 1 1 2 0 0 0 2 0 ENSG00000275371 chr16 30110895 30111955 + AC012645.4 antisense 65 71 96 107 130 112 77 84 124 ENSG00000275372 chr2 144518447 144518574 + RF01984 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275373 chr11 12163683 12163767 + MIR6124 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466906 1 4 0 2 5 0 0 12 3 ENSG00000275374 chr5 100375700 100381398 - AC113385.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275377 chr9 40929010 40929092 - MIR1299 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302167 0 0 0 0 0 0 0 0 0 ENSG00000275379 chr6 27871905 27872315 - HIST1H3I protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8354 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nuclear chromosome, GO:0046982, GO:0045296, GO:0005515, GO:0003677, protein heterodimerization activity, cadherin binding, protein binding, DNA binding, GO:0060968, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0032200, GO:0007596, GO:0006335, GO:0006334, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, telomere organization, blood coagulation, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 0 0 0 2 0 0 0 0 0 ENSG00000275381 chr2 69844509 69844933 - AC019206.1 processed_pseudogene 2 3 1 0 0 2 8 4 3 ENSG00000275383 chr16 68591382 68594424 + AC126773.4 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000275385 chr17 36064280 36072032 + CCL18 protein_coding This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014]. 6362 GO:0005615, extracellular space, GO:0048020, GO:0008009, GO:0005515, CCR chemokine receptor binding, chemokine activity, protein binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0048247, GO:0043547, GO:0030593, GO:0007267, GO:0007186, GO:0007165, GO:0007154, GO:0006955, GO:0006954, GO:0006935, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, cell communication, immune response, inflammatory response, chemotaxis, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000275386 chr8 93974671 93974776 - AC105081.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275387 chrX 54842014 54842134 + AL049732.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275389 chr12 124085761 124088598 + AC068790.9 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275390 chr9 40767870 40806344 + AL353626.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275391 chr16 18379351 18379410 - MIR6770-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466259 0 0 0 0 0 0 0 0 0 ENSG00000275392 chr1 207127010 207127486 - AL445493.3 antisense 0 0 0 0 0 0 0 0 1 ENSG00000275393 chr16 85697335 85697868 - AC018695.6 sense_intronic 0 0 0 1 2 6 0 3 0 ENSG00000275395 chr19 39863323 39934626 - FCGBP protein_coding 8857 GO:0070062, GO:0031012, GO:0005615, extracellular exosome, extracellular matrix, extracellular space, GO:0005515, protein binding, 14 10 9 22 9 18 39 9 3 ENSG00000275400 chr7 66553805 66554199 - AC006001.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275401 chr20 38418483 38419202 - AL391095.3 lincRNA 1 1 0 1 0 0 0 1 0 ENSG00000275406 chr1 226331999 226333655 - AL359742.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275409 chr12 118430147 118430699 + AC026367.2 lincRNA 3 0 2 1 0 0 4 1 0 ENSG00000275410 chr17 37686432 37745247 - HNF1B protein_coding This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 6928 GO:0043231, GO:0005667, GO:0005654, GO:0005634, GO:0005634, GO:0000785, intracellular membrane-bounded organelle, transcription regulator complex, nucleoplasm, nucleus, nucleus, chromatin, GO:0044877, GO:0042802, GO:0005515, GO:0003700, GO:0000987, GO:0000981, GO:0000981, GO:0000978, protein-containing complex binding, identical protein binding, protein binding, DNA-binding transcription factor activity, cis-regulatory region sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:1900212, GO:0072181, GO:0072095, GO:0070365, GO:0065004, GO:0061296, GO:0061017, GO:0060677, GO:0060261, GO:0050673, GO:0048793, GO:0048754, GO:0048557, GO:0045893, GO:0042493, GO:0039020, GO:0035565, GO:0032922, GO:0031016, GO:0030902, GO:0030111, GO:0030073, GO:0014070, GO:0009952, GO:0009749, GO:0007219, GO:0006357, GO:0001826, GO:0001822, GO:0001822, GO:0001714, GO:0000122, negative regulation of mesenchymal cell apoptotic process involved in metanephros development, mesonephric duct formation, regulation of branch elongation involved in ureteric bud branching, hepatocyte differentiation, protein-DNA complex assembly, negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis, hepatoblast differentiation, ureteric bud elongation, positive regulation of transcription initiation from RNA polymerase II promoter, epithelial cell proliferation, pronephros development, branching morphogenesis of an epithelial tube, embryonic digestive tract morphogenesis, positive regulation of transcription, DNA-templated, response to drug, pronephric nephron tubule development, regulation of pronephros size, circadian regulation of gene expression, pancreas development, hindbrain development, regulation of Wnt signaling pathway, insulin secretion, response to organic cyclic compound, anterior/posterior pattern specification, response to glucose, Notch signaling pathway, regulation of transcription by RNA polymerase II, inner cell mass cell differentiation, kidney development, kidney development, endodermal cell fate specification, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000275411 chr15 74840642 74840707 - MIR6882 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465531 0 0 0 0 0 0 0 0 0 ENSG00000275413 chr17 16023323 16023653 - AC002553.2 antisense 4 12 15 14 17 8 7 9 8 ENSG00000275414 chr2 170690564 170690742 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275417 chr15 56248787 56249127 + AC068726.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275418 chr18 58659858 58660524 + AC104971.3 lincRNA 1 0 2 0 0 0 1 0 5 ENSG00000275419 chr6 154542552 154542740 + AL357075.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275423 chr2 47989625 47990526 + AC092650.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275426 chr4 149738 150317 + AC253576.2 sense_intronic 0 3 2 8 0 0 3 1 6 ENSG00000275427 chr8 1296034 1302607 - AF067845.2 lincRNA 286083 0 0 0 0 0 0 0 0 0 ENSG00000275429 chr16 28390982 28391051 - MIR6862-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465520 0 0 0 0 0 0 0 0 0 ENSG00000275431 chr17 35983656 35990270 + AC244100.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275432 chr19 14628599 14628801 + AC022149.2 processed_pseudogene 10 13 25 9 12 38 8 11 33 ENSG00000275437 chr20 62402236 62405935 - AL121832.3 sense_intronic 19 37 31 15 30 56 51 49 49 ENSG00000275438 chr16 848525 849065 - AL031008.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000275441 chr16 28553709 28554140 - AC020765.2 antisense 29 24 27 49 44 57 56 47 46 ENSG00000275443 chr15 95990582 96300990 + AC012409.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275445 chr16 22007480 22008062 - AC092119.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275448 chr18 64677796 64677993 - AC027506.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275449 chr15 101973524 101973591 + MIR6859-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465910 2 3 5 4 9 2 5 8 7 ENSG00000275450 chr9 41276280 41282846 + AL845472.1 lincRNA This locus represents naturally-occurring readthrough transcription between two pseudogenes, PTGER4P2 (prostaglandin E receptor 4 pseudogene 2) and CDK2AP2P2 (cyclin-dependent kinase 2 associated protein 2 pseudogene 2). The individual pseudogene loci are not curated as transcribed regions. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Jan 2016]. 442421 0 0 0 4 0 0 0 0 0 ENSG00000275451 chr15 62343029 62343138 + MIR6085 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464834 0 0 0 0 0 0 0 0 0 ENSG00000275453 chr20 38516563 38516632 + MIR548O2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616190 0 0 0 0 0 0 0 0 0 ENSG00000275454 chr15 75639760 75640976 + AC105020.6 antisense 26 14 30 31 17 28 12 23 35 ENSG00000275455 chr1 107897223 107897304 + MIR7852 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465839 0 0 0 0 0 0 0 0 0 ENSG00000275457 chr20 21302731 21303704 - AL117332.1 antisense 82 78 90 42 52 50 31 32 40 ENSG00000275458 chr2 217900513 217900628 - MIR6809 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465485 0 0 0 0 0 0 0 0 0 ENSG00000275460 chr15 80057425 80057684 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275461 chr8 5716584 5716804 + AC084768.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275464 chr21 5130871 5154734 - FP565260.1 protein_coding 102724159 GO:0034388, GO:0032040, GO:0005654, Pwp2p-containing subcomplex of 90S preribosome, small-subunit processome, nucleoplasm, GO:0003723, RNA binding, GO:0006364, GO:0000462, GO:0000028, rRNA processing, maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA), ribosomal small subunit assembly, 76 59 127 57 36 62 70 55 37 ENSG00000275465 chr9 96106661 96116411 - AL449403.2 lincRNA 158434 0 0 0 0 0 0 0 0 0 ENSG00000275467 chr12 116801023 116801477 + AC083806.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275468 chr19 2013728 2014656 - AC004678.1 processed_pseudogene 0 0 1 0 1 0 0 0 0 ENSG00000275469 chr21 23079284 23079392 + MIR6130 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466967 0 0 0 0 0 0 0 0 0 ENSG00000275475 chr14 106601346 106601792 - IGHV3-54 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275476 chr12 29277397 29277882 - AC009318.4 antisense 2 2 7 8 8 6 6 1 12 ENSG00000275479 chr17 80149627 80149798 + AC087741.2 lincRNA 0 2 0 6 0 2 3 1 0 ENSG00000275480 chr17 22567423 22568713 - AC131055.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275481 chr12 46388856 46392126 + AC025031.4 lincRNA 5 7 8 9 3 10 9 10 12 ENSG00000275484 chr11 67374416 67374932 + AP003419.3 lincRNA 0 1 5 1 0 0 2 0 1 ENSG00000275485 chr13 20768876 20769375 - AL512652.1 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000275488 chr12 53574632 53576103 + AC023509.5 processed_pseudogene 1 0 2 0 0 0 0 1 0 ENSG00000275489 chr17 38835088 38841455 - C17orf98 protein_coding 388381 0 0 0 0 0 0 0 0 0 ENSG00000275490 chr2 90309230 90309333 + AC233263.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275491 chr20 3808357 3812434 + LINC01730 lincRNA 1 0 3 3 0 7 5 0 0 ENSG00000275493 chr9 41644430 41644770 - AL591926.2 processed_pseudogene 0 1 1 0 1 0 0 1 0 ENSG00000275494 chr16 25106569 25107102 - AC133552.5 sense_intronic 6 1 0 0 3 4 1 1 4 ENSG00000275496 chr21 6228966 6267317 - CU633906.1 lincRNA 102724701 0 0 0 5 0 0 0 0 0 ENSG00000275497 chr2 95633850 95636106 + AC009237.17 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275502 chr13 105462302 105462505 + RF02091 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275503 chr1 15989140 15989375 - AL355994.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275504 chr16 68926894 68926957 - RF00066 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275506 chr5 139612002 139612363 - AC010378.1 processed_pseudogene 2 0 4 3 0 5 8 4 0 ENSG00000275508 chrX 142372276 142373990 + AL109620.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275512 chr18 35403996 35406528 - AC007998.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275515 chr16 4433202 4433387 - AC012676.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275516 chr17 79952663 79952992 + AC100791.3 antisense 0 0 1 0 0 0 0 0 0 ENSG00000275518 chr18 3885353 3885432 + MIR6718 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465430 0 0 0 0 0 0 0 0 0 ENSG00000275519 chr19 55230885 55230952 - MIR6804 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465482 0 0 0 0 0 0 0 0 2 ENSG00000275520 chrX 72938163 72938958 + FAM236A protein_coding 100129407 0 0 0 0 0 0 0 0 0 ENSG00000275523 chr21 39447010 39447069 + MIR6508 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466972 0 0 0 0 0 0 0 0 0 ENSG00000275524 chr15 25218617 25218698 + SNORD115-26 snoRNA 100033802 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000275527 chr15 74598919 74599397 - AC100835.2 lincRNA 6 0 6 4 1 0 4 2 0 ENSG00000275529 chr15 25059538 25059633 + SNORD116-4 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000275532 chr17 38703480 38706261 - AC006449.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275538 chr1 120850819 120850985 - RNVU1-19 snRNA 101954277 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 1 1 0 5 0 4 10 0 0 ENSG00000275540 chr19 19740884 19750127 + AC011477.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275542 chr17 81339183 81339691 - AC027601.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275547 chr19 37024886 37025254 - AC010632.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275549 chr9 137250219 137253497 - STPG3-AS1 antisense 100129722 4 1 2 1 0 8 0 1 0 ENSG00000275550 chr6 37295584 37295742 - AL096712.1 processed_pseudogene 4 1 0 1 0 3 0 0 0 ENSG00000275552 chr14 22595808 22598946 - AC243965.2 antisense 31 28 35 4 15 6 3 5 7 ENSG00000275553 chr18 46968695 46969912 - ELOA3C protein_coding 107983955 GO:0070449, elongin complex, GO:0006368, transcription elongation from RNA polymerase II promoter, 0 0 0 0 0 0 0 0 0 ENSG00000275557 chr1 149607765 149612402 + AC242842.1 processed_transcript 17 11 13 8 25 5 22 14 6 ENSG00000275558 chr8 143542110 143542398 + RN7SKP175 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275559 chr13 50081843 50081978 + RF02110 misc_RNA 1 5 2 10 3 5 4 8 7 ENSG00000275560 chr12 12718973 12719521 + AC008115.3 sense_intronic 65 58 59 17 53 57 17 21 48 ENSG00000275562 chr17 60256720 60258411 + AC104763.3 unprocessed_pseudogene 6 9 12 21 47 46 29 33 16 ENSG00000275563 chr14 18977180 18980742 - AL929601.3 antisense 100508046 0 0 0 5 0 0 0 0 0 ENSG00000275567 chr12 21828360 21828564 - AC008250.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275569 chr14 56305838 56306394 + AL355073.2 antisense 6 4 15 8 11 15 14 8 5 ENSG00000275572 chr7 2474844 2476894 - GRIFIN protein_coding 402635 GO:0005737, cytoplasm, GO:0030246, carbohydrate binding, 0 0 3 0 0 0 0 0 0 ENSG00000275576 chr20 32116171 32116629 + AL049539.1 sense_intronic 0 4 3 6 14 9 1 2 9 ENSG00000275578 chrY 17705968 17708185 - AC007742.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275580 chr15 49343608 49344254 + AC022306.2 lincRNA 0 0 1 0 0 0 1 0 0 ENSG00000275582 chr20 3921279 3923400 - AL031670.1 antisense 44 48 59 54 74 61 52 69 54 ENSG00000275585 chr1 120985692 121052167 - AC241377.2 transcribed_unprocessed_pseudogene 101929798 3 0 0 1 0 1 0 3 3 ENSG00000275586 chr7 148876018 148876286 + RF00017 misc_RNA 0 0 0 0 0 0 1 0 0 ENSG00000275588 chr2 64817378 64817675 + RN7SL341P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275589 chr12 53963629 53963697 + RF01905 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275591 chr8 6808517 6835644 - XKR5 protein_coding 389610 GO:0016021, GO:0016020, GO:0005886, integral component of membrane, membrane, plasma membrane, GO:1902742, GO:0070782, GO:0043652, apoptotic process involved in development, phosphatidylserine exposure on apoptotic cell surface, engulfment of apoptotic cell, 0 0 0 0 0 0 0 0 0 ENSG00000275592 chr21 10357400 10358620 + VN1R7P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275597 chr2 87980714 87992858 - AC108479.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275598 chr11 63469376 63470944 + AP000484.1 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000275601 chr15 43642389 43643023 - AC011330.2 sense_intronic 0 0 1 0 1 3 0 0 3 ENSG00000275607 chr3 58379217 58379525 - AC135507.2 processed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000275609 chr22 23610329 23610538 + AP000346.3 processed_pseudogene 1 3 0 0 1 0 7 0 0 ENSG00000275610 chr10 133680369 133681637 + DUX4L21 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275612 chr11 7698951 7699393 - AC104237.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275613 chr17 36722583 36726340 + AC243830.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275614 chr9 67714723 67714914 + AL627230.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275616 chr17 43239921 43240111 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275620 chr20 63253978 63261615 + FLJ16779 antisense 100192386 0 0 0 0 0 0 0 0 0 ENSG00000275625 chrX 74281703 74281849 + RF02123 misc_RNA 5 6 5 1 2 0 3 1 0 ENSG00000275628 chr9 60918581 60927822 - AL590491.1 transcribed_processed_pseudogene 107987066 0 0 0 0 0 0 0 0 0 ENSG00000275630 chr14 70822004 70823984 + AC004816.2 lincRNA 2 0 0 0 0 0 0 2 0 ENSG00000275631 chr21 9646825 9647000 + RF00003 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275632 chr20 6000418 6000941 + AL035461.2 lincRNA 1 1 0 2 1 3 3 0 5 ENSG00000275634 chr5 60488078 60488327 + RF02160 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275635 chr22 23137805 23137864 - RF00066 snRNA 0 0 2 0 0 3 0 0 0 ENSG00000275636 chr15 40078892 40079347 + AC021755.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275638 chr15 65655620 65656085 - AC011939.3 antisense 0 1 0 5 7 7 1 4 4 ENSG00000275640 chr19 10828973 10829035 + MIR6793 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466737 0 2 0 6 4 1 5 0 0 ENSG00000275642 chr19 1724115 1724395 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275643 chrX 52485046 52485912 - RBM22P6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275645 chr15 75346744 75347161 - AC068338.3 antisense 0 0 0 2 2 2 5 4 17 ENSG00000275646 chr5 136133696 136133826 + RF02174 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275647 chr4 128944628 128944956 + AC093783.1 processed_pseudogene 29 20 16 7 4 16 18 15 11 ENSG00000275649 chr9 42231811 42354454 + AL445584.2 lincRNA 0 3 0 0 2 0 0 1 0 ENSG00000275651 chr9 33467869 33467935 - MIR6851 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465512 0 0 0 0 0 0 2 0 0 ENSG00000275652 chr19 40369846 40369907 + MIR6796 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465477 0 0 0 0 0 0 1 0 0 ENSG00000275654 chr16 28451644 28455356 + AC138894.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275655 chr2 97100587 97100874 + RN7SL313P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275656 chr22 32188400 32188487 - RF02171 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275662 chr14 100897920 100897996 + SNORD112 snoRNA Small nucleolar RNAs (snoRNAs), like SNORD112, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]. 692215 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000275663 chr6 26246681 26246977 - HIST1H4G protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8369 GO:0005634, GO:0000786, nucleus, nucleosome, GO:0046982, GO:0005515, GO:0003677, GO:0003674, protein heterodimerization activity, protein binding, DNA binding, molecular_function, GO:0008150, GO:0006334, biological_process, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000275664 chr21 8205851 8205940 + RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275665 chr17 38715328 38720272 - AC006449.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275666 chr11 2652099 2652562 + RF01946 misc_RNA 0 0 0 0 1 0 0 1 0 ENSG00000275667 chr7 64679064 64679176 + MIR6839 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465505 0 1 2 1 0 0 6 0 0 ENSG00000275669 chr11 1256605 1256670 + MIR6744 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466725 0 0 0 0 0 0 0 0 0 ENSG00000275670 chr3 113432118 113432200 - MIR8076 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466253 0 0 0 0 0 0 0 0 0 ENSG00000275672 chr15 45378700 45380123 + AC025580.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275674 chr15 90266317 90314499 + AC091167.6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000275675 chr10 38068449 38068694 - AL161931.1 unprocessed_pseudogene 0 1 1 2 1 1 0 0 1 ENSG00000275676 chr9 61229913 61231863 - BX005040.1 lincRNA 1 3 6 0 2 8 0 7 4 ENSG00000275678 chr1 67121605 67123956 - AL133320.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275680 chr17 58951185 58951513 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275681 chrX 21841794 21841961 - U73479.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275688 chr17 35983656 36001621 - CCL15-CCL14 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000275689 chr13 21126271 21126396 - RF02116 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275691 chr16 56676132 56677763 + MT1IP transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275692 chr21 8432530 8432621 + MIR6724-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504733 0 0 0 0 0 0 0 0 0 ENSG00000275693 chr10 88992370 88992539 + RF02116 misc_RNA 1 0 1 2 0 6 2 3 8 ENSG00000275695 chr15 82445719 82454837 + UBE2Q2P6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275696 chr3 186629936 186630211 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275700 chr17 36948875 37056871 + AATF protein_coding The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]. 26574 GO:0005794, GO:0005737, GO:0005730, GO:0005730, GO:0005654, GO:0005634, Golgi apparatus, cytoplasm, nucleolus, nucleolus, nucleoplasm, nucleus, GO:0048156, GO:0043522, GO:0019901, GO:0005515, GO:0003723, tau protein binding, leucine zipper domain binding, protein kinase binding, protein binding, RNA binding, GO:2001234, GO:2000378, GO:0045944, GO:0043066, GO:0042985, GO:0042254, GO:0032929, GO:0007346, GO:0006974, GO:0006357, negative regulation of apoptotic signaling pathway, negative regulation of reactive oxygen species metabolic process, positive regulation of transcription by RNA polymerase II, negative regulation of apoptotic process, negative regulation of amyloid precursor protein biosynthetic process, ribosome biogenesis, negative regulation of superoxide anion generation, regulation of mitotic cell cycle, cellular response to DNA damage stimulus, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000275703 chr12 6899752 6900212 + U47924.3 lincRNA 0 5 1 0 2 0 3 1 1 ENSG00000275708 chr21 8208473 8208652 + MIR3648-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500862 0 0 0 0 0 0 0 0 0 ENSG00000275709 chr15 45585757 45586304 - AC090527.3 lincRNA 6 7 5 12 30 44 17 12 18 ENSG00000275710 chr17 54964474 54964679 + AC007485.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275711 chr19 15179283 15179350 - MIR6795 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465476 0 0 0 0 0 0 0 0 0 ENSG00000275713 chr6 26251651 26253710 + HIST1H2BH protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8345 GO:0070062, GO:0032991, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000786, extracellular exosome, protein-containing complex, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleosome, GO:0097677, GO:0046982, GO:0044389, GO:0019899, GO:0005515, GO:0003677, GO:0003677, STAT family protein binding, protein heterodimerization activity, ubiquitin-like protein ligase binding, enzyme binding, protein binding, DNA binding, DNA binding, GO:0016567, GO:0006334, GO:0006334, protein ubiquitination, nucleosome assembly, nucleosome assembly, 3 3 16 6 10 10 2 0 1 ENSG00000275714 chr6 26020490 26020900 + HIST1H3A protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8350 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nuclear chromosome, GO:0046982, GO:0045296, GO:0005515, GO:0003677, protein heterodimerization activity, cadherin binding, protein binding, DNA binding, GO:0060968, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0032200, GO:0007596, GO:0006335, GO:0006334, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, telomere organization, blood coagulation, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 3 8 11 3 10 26 20 10 5 ENSG00000275716 chr6 100093311 100093768 - AL080285.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275718 chr17 35996440 36002038 - CCL15 protein_coding This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013]. 6359 GO:0005615, extracellular space, GO:0048020, GO:0042056, GO:0008201, GO:0008009, GO:0005102, CCR chemokine receptor binding, chemoattractant activity, heparin binding, chemokine activity, signaling receptor binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0050918, GO:0048247, GO:0043547, GO:0030593, GO:0007267, GO:0007186, GO:0007165, GO:0006954, GO:0006935, GO:0006874, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, positive chemotaxis, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, cell-cell signaling, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, chemotaxis, cellular calcium ion homeostasis, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000275719 chr19 46787815 46789043 + AC008622.2 antisense 6 6 35 31 10 40 19 1 23 ENSG00000275720 chr17 36634069 36634698 + AC243830.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275722 chr17 35934518 35943699 - LYZL6 protein_coding This gene encodes a member of the C-type lysozyme/alpha-lactalbumin family. C-type lysozymes are bacteriolytic factors that play a role in host defense, whereas alpha-lactalbumins mediate lactose biosynthesis. The encoded protein contains catalytic residues characteristic of C-type lysozymes and may play a role in male reproduction. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]. 57151 GO:0097524, GO:0097225, GO:0036126, GO:0009986, GO:0005576, GO:0001669, sperm plasma membrane, sperm midpiece, sperm flagellum, cell surface, extracellular region, acrosomal vesicle, GO:0003796, lysozyme activity, GO:0042742, GO:0019835, GO:0009566, GO:0008152, GO:0007342, GO:0007342, defense response to bacterium, cytolysis, fertilization, metabolic process, fusion of sperm to egg plasma membrane involved in single fertilization, fusion of sperm to egg plasma membrane involved in single fertilization, 0 0 0 0 0 0 0 0 0 ENSG00000275725 chr11 44656771 44656920 + AC104010.1 processed_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000275726 chr19 45436654 45436704 + MIR6088 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464836 0 0 0 0 0 0 0 0 0 ENSG00000275728 chr20 16580258 16580622 + AL049794.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275733 chr5 2261859 2262023 + AC092266.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275734 chr16 89671568 89685304 + AC010538.1 sense_overlapping 9 2 1 18 4 7 9 11 2 ENSG00000275740 chr5 146203550 146339251 + AC091959.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000275741 chr13 109785831 109808252 + AL162497.1 antisense 50 70 80 47 55 57 41 77 40 ENSG00000275743 chr7 142587868 142588359 + TRBV14 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000275745 chr16 66550457 66550567 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275747 chr14 106867660 106868092 - IGHV3-79 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275756 chr9 92104425 92105451 + AL354751.3 processed_pseudogene 0 4 2 0 0 0 1 1 9 ENSG00000275759 chr12 118428281 118428870 + AC026367.3 lincRNA 8 11 2 9 11 21 8 4 3 ENSG00000275763 chr18 76495521 76498088 + C18orf65 lincRNA 400658 7 10 14 7 4 0 5 2 3 ENSG00000275764 chr12 27037100 27038960 + AC092747.4 lincRNA 118 167 143 107 136 111 94 73 97 ENSG00000275765 chr5 151770242 151771508 - AC091982.3 lincRNA 6 7 2 1 3 6 1 3 2 ENSG00000275767 chr1 144179777 144211729 + AC244015.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275768 chr2 95196449 95197357 - SLC2AXP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275769 chr12 31443792 31444208 - AC068792.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275770 chr12 48132797 48132867 + MIR6505 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466657 0 0 0 0 0 0 0 0 0 ENSG00000275771 chr15 101937591 101938470 - OR4G6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275772 chr22 22785643 22787268 - AC244157.2 processed_pseudogene 1 2 2 1 4 3 0 0 0 ENSG00000275773 chr6 60723148 60723898 + AL590227.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275774 chr1 13115496 13116854 - HNRNPCL2 protein_coding 440563 GO:0005634, nucleus, GO:0042802, GO:0005515, GO:0003723, identical protein binding, protein binding, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000275776 chr15 32394365 32394613 - RN7SL185P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275778 chr12 10845849 11171600 - PRH1-PRR4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000275785 chr15 63890030 63890317 + AC015914.2 unprocessed_pseudogene 1 1 0 0 1 0 1 7 5 ENSG00000275787 chr19 9122160 9122492 - OR7G15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275788 chr13 30684029 30684278 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275789 chr3 52846463 52846552 - MIR8064 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465866 0 1 3 0 2 0 0 1 0 ENSG00000275791 chr7 142544212 142544685 + TRBV10-3 TR_V_gene 2 0 3 0 0 0 4 0 4 ENSG00000275793 chr22 18605815 18611919 - RIMBP3 protein_coding 85376 GO:0045202, GO:0005737, GO:0005634, GO:0002177, synapse, cytoplasm, nucleus, manchette, GO:0030156, GO:0005515, benzodiazepine receptor binding, protein binding, GO:0009566, GO:0007286, GO:0007274, fertilization, spermatid development, neuromuscular synaptic transmission, 0 0 1 0 0 0 0 0 0 ENSG00000275799 chr21 44244545 44244993 + AP001059.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275800 chrX 19496378 19497721 - EIF5P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275801 chr1 160775954 160776608 - AL121985.3 unprocessed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000275803 chr15 90293939 90294207 + RN7SL736P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275805 chr18 26565723 26575626 - AC090206.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275807 chr16 28822431 28823969 - AC145285.6 antisense 92 81 115 76 69 59 70 56 73 ENSG00000275808 chr16 59004213 59004494 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275810 chr4 113152282 113152362 + MIR8082 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465878 0 0 0 0 0 0 0 0 0 ENSG00000275811 chr12 1151810 1153059 - HTR1DP1 processed_pseudogene 0 0 0 1 5 0 3 1 2 ENSG00000275812 chr20 63543411 63543738 + AL121829.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275816 chr1 51060018 51060103 + MIR6500 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466656 0 0 0 0 0 0 0 0 0 ENSG00000275818 chr22 30007049 30007113 + MIR6818 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466742 0 0 1 0 0 0 0 0 0 ENSG00000275823 chr1 63549294 63549366 - RF02107 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275826 chr4 188713644 188715442 + AC093909.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275827 chr18 75927836 75928004 + AC021506.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275828 chrY 11412548 11418716 + AC134879.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275830 chr13 109988097 110057331 - AL355974.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275832 chr17 38419280 38512392 + ARHGAP23 protein_coding The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]. 57636 GO:0070062, GO:0005829, extracellular exosome, cytosol, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000275833 chr7 65764535 65768306 + AC073107.2 unprocessed_pseudogene 2 4 2 1 6 30 0 4 1 ENSG00000275834 chr7 96306810 96306874 + AC084368.1 processed_pseudogene 0 0 0 0 1 0 0 3 0 ENSG00000275835 chr15 22983192 23039673 - TUBGCP5 protein_coding 114791 GO:0008274, GO:0008274, GO:0005874, GO:0005829, GO:0005829, GO:0005813, GO:0005813, GO:0000930, GO:0000923, GO:0000922, gamma-tubulin ring complex, gamma-tubulin ring complex, microtubule, cytosol, cytosol, centrosome, centrosome, gamma-tubulin complex, equatorial microtubule organizing center, spindle pole, GO:0051011, GO:0043015, GO:0008017, GO:0005515, microtubule minus-end binding, gamma-tubulin binding, microtubule binding, protein binding, GO:0051415, GO:0051321, GO:0051225, GO:0031122, GO:0007020, GO:0000278, microtubule nucleation by interphase microtubule organizing center, meiotic cell cycle, spindle assembly, cytoplasmic microtubule organization, microtubule nucleation, mitotic cell cycle, 2 1 9 4 2 18 4 3 10 ENSG00000275836 chr1 63326925 63326984 - MIR6068 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464823 0 0 0 0 0 0 0 0 0 ENSG00000275839 chr17 37454171 37454931 + AC243654.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275840 chr22 21396273 21396590 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275842 chr20 63919868 63919939 + MIR941-5 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504732 3 0 0 0 0 0 0 0 0 ENSG00000275846 chr6 26602733 26606661 + AL513548.3 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000275850 chr12 3171657 3174056 + AC005912.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000275852 chr20 58003904 58004648 + LINC01742 lincRNA 105376992 0 0 0 0 0 0 0 0 0 ENSG00000275853 chr7 55731100 55731403 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275854 chr12 32736930 32737660 - AC084824.4 sense_intronic 6 3 27 9 0 25 10 7 5 ENSG00000275856 chr6 30058115 30058190 + RF02219 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275857 chr16 29804430 29804990 - AC009133.4 antisense 33 39 51 85 72 82 50 72 67 ENSG00000275859 chr6 1390314 1390411 - MIR6720 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466720 0 0 0 0 0 0 0 0 0 ENSG00000275860 chr17 60021072 60022436 + AC005702.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275862 chr19 46809583 46810182 + AC008622.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275863 chr19 55123225 55123292 - MIR7975 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466872 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000275866 chrY 8517364 8517748 - AC016991.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275868 chr11 23419105 23419190 - MIR8054 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465860 0 0 0 0 0 0 0 0 0 ENSG00000275871 chr5 149425771 149428289 - AC131025.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275874 chr21 44999208 45004727 - PICSAR lincRNA 378825 0 0 0 0 0 0 0 0 0 ENSG00000275875 chr7 55741525 55741869 + AC091812.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275877 chr20 30484925 30485076 - RF00002 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000275878 chr7 66980120 66980410 + RN7SL43P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275880 chr13 110613082 110616353 - AL139385.1 antisense 2 2 6 9 4 0 8 2 0 ENSG00000275881 chr12 62393607 62393880 - RF00017 misc_RNA 5 8 5 9 16 25 19 6 11 ENSG00000275882 chrX 154639978 154648275 - IKBKGP1 unprocessed_pseudogene 6 6 208 6 11 7 4 17 16 ENSG00000275888 chr17 82244770 82245591 + AC132872.3 antisense 808 921 1029 965 1192 1282 1061 823 1076 ENSG00000275894 chr20 45345115 45345823 - AL021578.1 sense_intronic 0 0 1 0 0 0 0 0 0 ENSG00000275895 chr21 6484623 6499261 - U2AF1L5 protein_coding 102724594 GO:0089701, GO:0016607, GO:0005681, GO:0005654, U2AF complex, nuclear speck, spliceosomal complex, nucleoplasm, GO:0046872, GO:0030628, GO:0005515, metal ion binding, pre-mRNA 3'-splice site binding, protein binding, GO:0000398, mRNA splicing, via spliceosome, 47 67 65 355 99 118 271 76 79 ENSG00000275896 chr7 142760398 142774564 + PRSS2 protein_coding This gene belongs to the trypsin family of serine proteases and encodes anionic trypsinogen. It is part of a cluster of trypsinogen genes that are located within the T cell receptor beta locus. Enzymes of this family cleave peptide bonds that follow lysine or arginine residues. This protein is found at high levels in pancreatic juice and its upregulation is a characteristic feature of pancreatitis. This protein has also been found to activate pro-urokinase in ovarian tumors, suggesting a function in tumor invasion. In addition, this enzyme is able to cleave across the type II collagen triple helix in rheumatoid arthritis synovitis tissue, potentially participating in the degradation of type II collagen-rich cartilage matrix. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2015]. 5645 GO:0035578, GO:0031012, GO:0005615, GO:0005615, GO:0005576, GO:0005576, azurophil granule lumen, extracellular matrix, extracellular space, extracellular space, extracellular region, extracellular region, GO:0005515, GO:0005509, GO:0004252, GO:0004252, protein binding, calcium ion binding, serine-type endopeptidase activity, serine-type endopeptidase activity, GO:0045785, GO:0043312, GO:0030574, GO:0030574, GO:0030574, GO:0030307, GO:0022617, GO:0019730, GO:0007586, GO:0006508, GO:0006508, positive regulation of cell adhesion, neutrophil degranulation, collagen catabolic process, collagen catabolic process, collagen catabolic process, positive regulation of cell growth, extracellular matrix disassembly, antimicrobial humoral response, digestion, proteolysis, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000275897 chr17 50475819 50478391 + AC021491.4 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000275898 chr12 116580974 116583672 + AC125603.4 lincRNA 29 15 3 16 5 20 28 2 10 ENSG00000275900 chr18 26689316 26689529 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000275901 chr19 16187313 16187566 + RF00017 misc_RNA 0 0 1 2 0 0 0 0 0 ENSG00000275902 chr17 81697025 81697714 - AC139530.3 antisense 15 8 5 8 19 10 8 11 5 ENSG00000275904 chr9 67697076 67697187 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275905 chr8 106980967 106981571 - AP003789.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275906 chr6 30961403 30962396 - NAPGP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275908 chr16 20823443 20823537 + RF00618 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000275909 chr16 48432927 48433208 - RF00017 misc_RNA 1 0 1 0 0 0 0 0 2 ENSG00000275910 chr16 15015828 15016390 - AC138932.5 antisense 0 1 0 0 1 0 0 0 1 ENSG00000275915 chr1 11847442 11847549 + RF02158 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275919 chr13 98871742 98872005 + AL161420.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275923 chr20 55504906 55505215 - AL160413.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000275924 chr19 58550285 58550376 + MIR6807 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465976 0 0 0 0 0 0 0 0 0 ENSG00000275927 chr16 17445825 17446380 - AC009152.1 sense_intronic 3 2 3 10 7 11 4 2 3 ENSG00000275928 chr8 85733419 85737278 + REXO1L11P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275929 chr15 91031246 91031691 - AC068831.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275930 chr7 75381638 75381739 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275933 chr1 120670127 120670376 + RF00100 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275936 chr12 120224744 120225421 + AC004263.1 antisense 5 5 7 7 12 17 12 13 17 ENSG00000275939 chr5 131440031 131440196 - RF02271 misc_RNA 0 0 0 2 0 0 2 1 0 ENSG00000275940 chr3 47028855 47029030 + MRPL57P3 processed_pseudogene 0 2 2 0 3 5 1 1 0 ENSG00000275942 chr22 26672164 26672248 + RF01876 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275944 chr17 36001419 36011618 + AC244100.3 antisense 0 2 0 0 0 0 0 0 0 ENSG00000275945 chr21 10330732 10331537 + EIF3FP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275948 chr11 65445541 65445598 + RF01684 sRNA 0 0 0 0 0 0 0 0 0 ENSG00000275950 chr21 8205315 8205406 + MIR6724-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465433 0 0 0 0 0 0 0 0 0 ENSG00000275953 chr6 126627484 126628570 - AL359535.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275954 chr17 36428618 36439566 - TBC1D3F protein_coding 84218 GO:0005886, plasma membrane, GO:0031267, GO:0005515, GO:0005096, small GTPase binding, protein binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000275956 chr3 52732547 52733867 + AC104446.1 processed_pseudogene 0 0 0 0 0 0 1 2 0 ENSG00000275958 chr20 52482801 52482991 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275959 chr4 44994426 44996022 + AC108467.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275961 chr2 96004563 96004850 - RN7SL210P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275963 chr12 12648939 12649713 + AC008115.4 lincRNA 0 1 1 1 2 0 2 0 4 ENSG00000275964 chr13 19863858 19865048 + AL355001.2 lincRNA 9 8 3 3 0 3 0 2 9 ENSG00000275965 chr15 92634305 92634665 + AC091544.7 antisense 0 0 0 0 0 0 0 0 0 ENSG00000275966 chr17 81345476 81345966 - AC110285.6 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000275967 chr12 124337181 124337242 - MIR6880 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466204 0 0 0 2 0 0 0 0 0 ENSG00000275968 chr13 105459815 105460015 + RF02090 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275969 chr9 66986304 66992583 - SPATA31A3 protein_coding 727830 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000275971 chr12 97530656 97530858 + RF01967 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275975 chrX 71368666 71368968 + RF00017 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000275976 chr7 73048055 73057911 - SPDYE11 transcribed_unprocessed_pseudogene 0 0 6 1 0 5 0 0 0 ENSG00000275978 chr14 34659564 34659878 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275980 chr9 21135598 21136350 - AL390882.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275981 chr3 4750333 4750685 + AC018816.2 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000275982 chr17 19649494 19649587 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275989 chr13 110952722 110952811 - AL442128.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000275992 chr15 75292706 75292928 + RN7SL327P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000275993 chr21 6111134 6123739 + SIK1B protein_coding 102724428 GO:0005737, GO:0005634, cytoplasm, nucleus, GO:0106311, GO:0106310, GO:0005524, GO:0005515, GO:0004674, GO:0000287, protein threonine kinase activity, protein serine kinase activity, ATP binding, protein binding, protein serine/threonine kinase activity, magnesium ion binding, GO:0042149, GO:0035556, GO:0006468, cellular response to glucose starvation, intracellular signal transduction, protein phosphorylation, 52 39 69 234 114 243 246 103 221 ENSG00000275994 chr4 118279190 118279320 + SNORA24 snoRNA 677809 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000275995 chr15 81403026 81403570 + AC109809.1 lincRNA 0 1 2 0 0 0 0 0 0 ENSG00000275996 chr11 62855012 62855083 - SNORD27 snoRNA 9301 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000275997 chr17 1155966 1156175 + AC016292.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276002 chr19 50258443 50258722 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276003 chr4 88723209 88723316 + RF02115 misc_RNA 0 0 1 0 0 0 0 0 6 ENSG00000276006 chr8 85714922 85715833 + REXO1L12P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276007 chr16 78123243 78124332 + AC079414.3 sense_intronic 0 1 1 1 0 0 2 0 1 ENSG00000276012 chr13 101717564 101723106 + AL160153.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276014 chr17 36110150 36110447 + RN7SL301P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276015 chr11 2697851 2698076 + RF01950 misc_RNA 0 1 0 8 1 5 3 1 0 ENSG00000276019 chr6 8653558 8653797 + RF02101 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276023 chr17 37489831 37513501 + DUSP14 protein_coding Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP14 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]. 11072 GO:0106307, GO:0106306, GO:0017017, GO:0005515, GO:0004725, GO:0003723, protein threonine phosphatase activity, protein serine phosphatase activity, MAP kinase tyrosine/serine/threonine phosphatase activity, protein binding, protein tyrosine phosphatase activity, RNA binding, GO:0035335, GO:0000188, peptidyl-tyrosine dephosphorylation, inactivation of MAPK activity, 0 0 0 0 0 0 0 0 0 ENSG00000276026 chr20 1117847 1118450 - AL031665.2 antisense 0 1 0 1 0 2 0 1 0 ENSG00000276027 chr22 42615244 42615393 + RNU12 snRNA 267010 GO:0005693, U12 snRNP, GO:0045131, pre-mRNA branch point binding, GO:0000348, mRNA branch site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000276029 chr9 41233755 41233835 + MIR4477A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616184 1 0 0 1 1 0 0 1 1 ENSG00000276030 chr19 24146701 24147081 + AC073534.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000276031 chr20 49721949 49722247 + RN7SL197P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276032 chr9 67723736 67724105 + AL627230.4 unprocessed_pseudogene 0 0 0 0 0 0 2 0 0 ENSG00000276036 chr17 38731802 38731920 - RNA5SP440 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276039 chr9 66962271 66962348 + AL353770.2 processed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000276040 chr9 61190003 61196280 + SPATA31A7 protein_coding 26165 GO:0016021, integral component of membrane, GO:0005515, protein binding, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000276043 chr19 4903080 4962154 + UHRF1 protein_coding This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]. 29128 GO:0016363, GO:0005657, GO:0005654, GO:0005634, GO:0000792, GO:0000792, GO:0000791, GO:0000785, GO:0000785, nuclear matrix, replication fork, nucleoplasm, nucleus, heterochromatin, heterochromatin, euchromatin, chromatin, chromatin, GO:0061630, GO:0061630, GO:0044729, GO:0042802, GO:0042393, GO:0035064, GO:0031493, GO:0008327, GO:0008270, GO:0005515, GO:0004842, GO:0000987, ubiquitin protein ligase activity, ubiquitin protein ligase activity, hemi-methylated DNA-binding, identical protein binding, histone binding, methylated histone binding, nucleosomal histone binding, methyl-CpG binding, zinc ion binding, protein binding, ubiquitin-protein transferase activity, cis-regulatory region sequence-specific DNA binding, GO:2000373, GO:0051865, GO:0050678, GO:0045944, GO:0032270, GO:0016574, GO:0016567, GO:0010390, GO:0010390, GO:0010216, GO:0010216, GO:0007049, GO:0006511, GO:0006281, GO:0000122, positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity, protein autoubiquitination, regulation of epithelial cell proliferation, positive regulation of transcription by RNA polymerase II, positive regulation of cellular protein metabolic process, histone ubiquitination, protein ubiquitination, histone monoubiquitination, histone monoubiquitination, maintenance of DNA methylation, maintenance of DNA methylation, cell cycle, ubiquitin-dependent protein catabolic process, DNA repair, negative regulation of transcription by RNA polymerase II, 16 27 32 20 24 59 26 12 47 ENSG00000276045 chr12 121626550 121642677 + ORAI1 protein_coding The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]. 84876 GO:0045121, GO:0044853, GO:0034704, GO:0016323, GO:0016020, GO:0016020, GO:0005887, GO:0005886, GO:0005829, membrane raft, plasma membrane raft, calcium channel complex, basolateral plasma membrane, membrane, membrane, integral component of plasma membrane, plasma membrane, cytosol, GO:0042802, GO:0015279, GO:0015279, GO:0005516, GO:0005515, GO:0005262, identical protein binding, store-operated calcium channel activity, store-operated calcium channel activity, calmodulin binding, protein binding, calcium channel activity, GO:0070588, GO:0070509, GO:0061180, GO:0051928, GO:0051924, GO:0045762, GO:0002250, GO:0002115, GO:0002115, calcium ion transmembrane transport, calcium ion import, mammary gland epithelium development, positive regulation of calcium ion transport, regulation of calcium ion transport, positive regulation of adenylate cyclase activity, adaptive immune response, store-operated calcium entry, store-operated calcium entry, 313 398 449 135 235 216 168 272 258 ENSG00000276046 chr10 133753250 133754516 + DUX4L13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276047 chr5 123070782 123071080 + RN7SL711P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276048 chr2 44937426 44937696 + RF02250 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276050 chr2 97331533 97331843 - IGKV2OR2-10 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276054 chr17 37386886 37387926 + AC243654.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000276055 chr3 151079506 151079584 + RF02089 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276057 chr22 30971296 30971382 + RF01883 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276058 chr12 31715342 31715781 - STMN1P1 processed_pseudogene 10 10 16 27 22 27 20 8 13 ENSG00000276063 chr14 69154311 69154804 + AL391262.1 lincRNA 0 0 0 2 0 4 0 0 0 ENSG00000276064 chr6 77343557 77343654 + AL365222.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276067 chr7 135246113 135317752 - AC009542.2 transcribed_unprocessed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000276070 chr17 36210924 36212878 + CCL4L2 protein_coding This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting in multiple transcript variants. [provided by RefSeq, Apr 2014]. 9560 0 0 0 0 0 0 0 0 0 ENSG00000276071 chr19 36668102 36669404 + AC074138.1 lincRNA 1 1 1 0 0 0 2 2 0 ENSG00000276074 chr3 181610498 181610729 + RF01951 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276075 chr16 67517862 67528675 - AC027682.6 antisense 1 1 0 0 1 0 0 0 3 ENSG00000276076 chr21 6560714 6564489 + CRYAA2 protein_coding 102724652 GO:0005829, GO:0005654, cytosol, nucleoplasm, GO:0046872, GO:0005515, GO:0005212, metal ion binding, protein binding, structural constituent of eye lens, 0 0 0 0 0 0 0 0 0 ENSG00000276077 chr21 7430659 7469007 + CU633904.1 lincRNA 102724951 0 0 0 0 0 0 0 0 0 ENSG00000276081 chr1 77060143 77060202 + MIR7156 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466995 0 0 0 0 0 0 0 0 0 ENSG00000276083 chr3 127587111 127587176 - MIR7976 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465857 0 0 0 0 0 0 1 0 2 ENSG00000276085 chr17 36194869 36196758 - CCL3L1 protein_coding This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014]. 414062 GO:0005615, GO:0005576, extracellular space, extracellular region, GO:0048020, GO:0008009, GO:0005515, CCR chemokine receptor binding, chemokine activity, protein binding, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0048247, GO:0043547, GO:0030593, GO:0019221, GO:0008285, GO:0007186, GO:0006954, GO:0006954, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, cytokine-mediated signaling pathway, negative regulation of cell population proliferation, G protein-coupled receptor signaling pathway, inflammatory response, inflammatory response, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000276087 chr2 24124366 24190436 + AC008073.3 protein_coding 1 0 0 0 0 0 0 1 0 ENSG00000276088 chr17 16710059 16710361 + RN7SL620P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276089 chr13 50082295 50082484 + RF02103 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276092 chr18 68721082 68721560 + AC040896.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000276093 chr20 60083360 60083872 - AL132822.1 lincRNA 2 0 0 1 0 2 4 1 0 ENSG00000276094 chr9 41573512 41573606 - RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000276095 chr22 18873543 18894407 - LINC01663 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276096 chr16 4756338 4756633 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276097 chr19 2700689 2701266 - AC006538.3 sense_intronic 0 0 4 0 0 0 1 3 4 ENSG00000276098 chr5 29516005 29516504 + AC027345.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276100 chr7 116956431 116956723 + RF02189 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276101 chr17 81251194 81251803 + AC027601.4 antisense 65 96 76 32 31 37 43 35 18 ENSG00000276102 chr11 62567011 62567071 - MIR6747 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465447 0 0 0 0 0 0 0 0 0 ENSG00000276103 chr1 150608507 150608623 - RF00015 snRNA 5 6 3 2 4 5 4 1 0 ENSG00000276105 chr11 2674097 2674292 + RF01947 misc_RNA 0 0 0 0 1 0 2 0 1 ENSG00000276107 chr15 39586561 39587293 + AC037198.1 sense_intronic 4 0 2 0 1 0 0 0 0 ENSG00000276109 chr11 72551049 72551919 - AP005019.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276110 chr1 150255095 150257286 - AC242988.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276115 chr12 32352349 32354144 + AC026356.2 sense_intronic 0 1 0 7 0 0 4 0 0 ENSG00000276116 chr14 65411170 65412690 - FUT8-AS1 antisense 0 0 3 1 0 0 2 0 0 ENSG00000276118 chr1 143343180 143343275 + AC242852.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276119 chr9 104604671 104605627 - OR13C2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 392376 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000276121 chr15 44778196 44778721 - AC122108.2 lincRNA 0 0 0 7 35 24 0 3 7 ENSG00000276122 chr12 130138693 130140768 + AC026336.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276123 chr2 194658376 194658675 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276124 chr9 129869605 129869671 + MIR6855 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466750 1 0 0 0 1 0 3 1 0 ENSG00000276127 chr6 71251758 71252988 + AL589935.2 processed_pseudogene 0 1 3 4 0 0 0 0 0 ENSG00000276128 chr9 42981772 42988167 + AL591441.1 lincRNA 0 0 0 0 0 0 0 3 0 ENSG00000276131 chr16 58392153 58392807 - AC009118.2 antisense 0 0 0 0 0 1 0 1 0 ENSG00000276135 chr9 41648023 41648425 + AL591926.3 processed_pseudogene 0 0 0 3 0 0 5 0 3 ENSG00000276136 chr12 32000375 32001222 + AC016957.2 lincRNA 120 131 201 70 151 125 105 129 134 ENSG00000276137 chr7 133290881 133290988 + MIR6133 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465139 0 0 0 0 0 0 0 0 0 ENSG00000276138 chr22 15273855 15273961 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000276140 chr8 134598071 134598149 + RF02211 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276141 chr15 22664359 22686213 + WHAMMP3 transcribed_unprocessed_pseudogene 6 8 7 17 3 27 14 3 13 ENSG00000276144 chr12 7115736 7116486 - AC233309.1 lincRNA 17 14 29 14 29 15 16 13 20 ENSG00000276147 chr3 32506283 32506389 - MIR548AY miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465247 1 0 1 0 0 0 0 0 0 ENSG00000276148 chr12 32725248 32725660 - AC084824.5 antisense 1 8 0 2 1 0 1 2 3 ENSG00000276149 chr9 61202718 61203087 - BX005040.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276150 chr22 27922022 27922178 + RF02199 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276156 chr6 45097496 45097976 + AL138880.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276158 chrX 114652655 114652723 + MIR1264 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302251 0 0 0 0 0 0 0 0 0 ENSG00000276160 chr22 18340145 18345899 + GGTLC5P unprocessed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000276161 chr9 136726105 136726234 - SNORA17B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000276162 chr22 28459869 28459948 + MIR5739 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466081 0 0 0 0 0 0 0 0 0 ENSG00000276164 chr10 133683668 133684936 + DUX4L20 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276166 chr16 57759358 57760024 + AC092118.2 antisense 6 9 3 6 8 19 8 8 7 ENSG00000276168 chr14 49586580 49586878 + RN7SL1 misc_RNA The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL1, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008]. 6029 GO:0005786, signal recognition particle, endoplasmic reticulum targeting, GO:0006617, SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition, 0 0 0 0 0 0 0 0 0 ENSG00000276169 chr20 41169023 41169078 + MIR6871 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466912 0 0 0 0 0 0 0 0 0 ENSG00000276170 chr17 38450394 38452444 - AC244153.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000276172 chr15 23083094 23121324 + ELMO2P1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276174 chr18 42052705 42053030 + AC087683.2 sense_intronic 7 24 6 9 12 16 14 6 14 ENSG00000276176 chr11 128522390 128522449 + MIR6090 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466104 2 0 2 0 0 0 0 0 0 ENSG00000276178 chr7 72983360 72983461 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276179 chr11 84890744 84890961 + RF02113 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276180 chr6 27138588 27139881 + HIST1H4I protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]. 8294 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 182 190 270 52 119 114 72 93 104 ENSG00000276181 chr19 12852260 12852327 + MIR6794 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466196 0 0 0 0 0 0 0 0 0 ENSG00000276182 chr14 96537170 96537904 + AL163051.2 sense_intronic 33 31 48 18 22 18 5 13 9 ENSG00000276183 chr13 18418526 18418632 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000276185 chr7 87345305 87345486 + RF02196 misc_RNA 1 3 9 4 0 10 9 8 2 ENSG00000276188 chr12 120709112 120709523 + AC069234.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276189 chr1 3736943 3737103 + RF02197 misc_RNA 0 0 2 0 0 0 0 0 0 ENSG00000276193 chr8 133668420 133668701 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276200 chr2 196289409 196289707 + RN7SL820P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276202 chr17 77014880 77015138 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276203 chr9 66106815 66153135 - ANKRD20A3 protein_coding 642929 0 0 0 0 0 0 0 1 0 ENSG00000276204 chr9 67328207 67329404 - BX005195.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276205 chrX 131221196 131221436 - AL603758.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276206 chr19 54031412 54031504 + AC012314.20 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276208 chr13 58377513 58377774 + AL161423.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276210 chr14 106287674 106288828 + LINC00226 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276213 chr7 152025194 152025472 - RF00017 misc_RNA 0 0 0 14 6 15 1 3 10 ENSG00000276214 chr5 59314110 59314800 + AC008833.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276216 chr1 145281116 145281462 + AC245014.3 lincRNA 0 0 0 1 0 6 2 0 0 ENSG00000276221 chr18 26591467 26591535 - MIR8057 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466874 0 0 0 0 0 0 0 0 0 ENSG00000276223 chr20 44746642 44747201 + AL118522.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000276225 chr14 100894817 100894913 + RF02145 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276229 chr2 44935294 44935368 + RF02248 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276231 chr17 8802723 8867677 - PIK3R6 protein_coding Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. 146850 GO:0016020, GO:0005944, GO:0005942, GO:0005886, GO:0005829, membrane, phosphatidylinositol 3-kinase complex, class IB, phosphatidylinositol 3-kinase complex, plasma membrane, cytosol, GO:0046935, GO:0046935, GO:0046934, GO:0005515, 1-phosphatidylinositol-3-kinase regulator activity, 1-phosphatidylinositol-3-kinase regulator activity, phosphatidylinositol-4,5-bisphosphate 3-kinase activity, protein binding, GO:0046854, GO:0045766, GO:0045582, GO:0043551, GO:0043406, GO:0043406, GO:0042269, GO:0030168, GO:0007186, GO:0007186, GO:0006661, GO:0001525, phosphatidylinositol phosphorylation, positive regulation of angiogenesis, positive regulation of T cell differentiation, regulation of phosphatidylinositol 3-kinase activity, positive regulation of MAP kinase activity, positive regulation of MAP kinase activity, regulation of natural killer cell mediated cytotoxicity, platelet activation, G protein-coupled receptor signaling pathway, G protein-coupled receptor signaling pathway, phosphatidylinositol biosynthetic process, angiogenesis, 96 188 172 60 116 73 95 72 78 ENSG00000276232 chr12 6510275 6510522 + AC006064.5 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000276233 chr5 60546219 60546349 + RF02161 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276234 chr17 37406874 37479730 + TADA2A protein_coding Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009]. 6871 GO:0070461, GO:0005694, GO:0005634, GO:0000125, SAGA-type complex, chromosome, nucleus, PCAF complex, GO:0005515, GO:0004402, GO:0003713, GO:0003682, GO:0003677, protein binding, histone acetyltransferase activity, transcription coactivator activity, chromatin binding, DNA binding, GO:1903508, GO:0043966, GO:0035066, GO:0006357, GO:0006357, GO:0006338, positive regulation of nucleic acid-templated transcription, histone H3 acetylation, positive regulation of histone acetylation, regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, chromatin remodeling, 1 0 4 7 0 0 10 3 0 ENSG00000276240 chr14 21667940 21673818 - OR4E1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26687 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 1 0 0 0 0 ENSG00000276241 chr17 36116177 36177510 + AC243829.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276248 chr13 113527260 113530621 + AL442125.1 sense_intronic 15 23 32 0 12 11 15 5 6 ENSG00000276250 chr17 30803654 30804077 + AC127024.6 antisense 105 162 123 57 124 74 128 132 100 ENSG00000276251 chr19 29220864 29221666 + AC007786.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276255 chr1 228073909 228076550 - AL136379.1 lincRNA 100506571 0 0 0 0 0 3 0 0 0 ENSG00000276257 chr9 66084804 66085031 + AL513478.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276259 chr16 58522970 58523842 + AC009118.3 antisense 100 120 134 111 128 146 106 100 95 ENSG00000276261 chr12 27700066 27700574 + AC009509.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276266 chr9 40611252 40622155 - FP325318.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276269 chr13 110031101 110031567 - AL355974.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276270 chr19 49791866 49791934 + MIR6799 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465479 0 0 0 0 0 0 0 0 0 ENSG00000276272 chr12 56411944 56413190 - AC024884.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276277 chr9 42213841 42213918 - AL445584.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276278 chr15 84622015 84623237 - AC048382.6 antisense 2 6 2 9 5 5 1 3 1 ENSG00000276281 chr2 85567662 85567960 - RN7SL126P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276282 chr18 31895745 31896410 - AC022960.2 sense_intronic 5 7 6 4 7 0 2 1 3 ENSG00000276289 chr21 7816675 7829926 - KCNE1B protein_coding 102723475 GO:0008076, voltage-gated potassium channel complex, GO:1902282, GO:0044325, GO:0015459, GO:0005251, voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization, ion channel binding, potassium channel regulator activity, delayed rectifier potassium channel activity, GO:1902260, GO:0098915, GO:0097623, GO:0086091, GO:0086011, GO:0086005, GO:0060307, negative regulation of delayed rectifier potassium channel activity, membrane repolarization during ventricular cardiac muscle cell action potential, potassium ion export across plasma membrane, regulation of heart rate by cardiac conduction, membrane repolarization during action potential, ventricular cardiac muscle cell action potential, regulation of ventricular cardiac muscle cell membrane repolarization, 2 3 1 0 1 0 0 1 0 ENSG00000276290 chr6 60873360 60874642 - RBBP4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276291 chr9 40992249 41218410 + FRG1HP transcribed_unprocessed_pseudogene 37 27 92 43 37 69 50 43 46 ENSG00000276292 chr12 118037869 118038081 + AC131159.1 antisense 0 0 0 3 4 10 0 0 4 ENSG00000276293 chr17 38765689 38800126 - PIP4K2B protein_coding The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]. 8396 GO:0005886, GO:0005829, GO:0005789, GO:0005776, GO:0005654, GO:0005654, GO:0005634, plasma membrane, cytosol, endoplasmic reticulum membrane, autophagosome, nucleoplasm, nucleoplasm, nucleus, GO:0042803, GO:0016309, GO:0016308, GO:0005525, GO:0005524, GO:0005515, protein homodimerization activity, 1-phosphatidylinositol-5-phosphate 4-kinase activity, 1-phosphatidylinositol-4-phosphate 5-kinase activity, GTP binding, ATP binding, protein binding, GO:2000786, GO:1902635, GO:0046854, GO:0014066, GO:0010506, GO:0007166, GO:0006661, GO:0006644, positive regulation of autophagosome assembly, 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process, phosphatidylinositol phosphorylation, regulation of phosphatidylinositol 3-kinase signaling, regulation of autophagy, cell surface receptor signaling pathway, phosphatidylinositol biosynthetic process, phospholipid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000276294 chr19 20330121 20331517 + AC078899.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276298 chrX 103909126 103909449 + AC234782.4 unprocessed_pseudogene 0 0 0 2 0 0 2 0 3 ENSG00000276302 chr6 28267121 28281580 + AL021997.3 protein_coding 0 0 0 0 0 0 1 0 0 ENSG00000276304 chr3 139233414 139233520 + RF01873 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276308 chr12 115318657 115320405 - AC078880.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276309 chr5 68970439 68970752 - RN7SKP251 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276311 chr16 16368876 16368942 + MIR6511A3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465683 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000276314 chr15 24981994 24982068 + SNORD107 snoRNA Small nucleolar RNAs (snoRNAs) are small non-coding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011]. 91380 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000276316 chr11 124238420 124239486 + OR8G7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276317 chr20 62651272 62652186 - AL357033.3 antisense 6 13 23 14 9 0 0 9 2 ENSG00000276318 chr18 14695422 14706597 + GTF2IP8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276319 chr13 44196129 44196200 - MIR8079 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465876 0 0 0 0 0 0 0 0 0 ENSG00000276326 chr17 37033745 37033813 + MIR2909 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422969 0 0 0 0 0 0 0 0 0 ENSG00000276332 chr5 38197432 38198148 + AC010338.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276334 chr2 32521927 32523547 + AL133243.2 sense_intronic 7 8 6 9 17 15 16 11 16 ENSG00000276337 chr16 87470370 87474370 - AC105429.1 sense_intronic 5 10 12 1 3 7 3 2 5 ENSG00000276348 chr9 66979132 66988373 + AL353770.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276350 chrX 154450320 154450386 + MIR6858 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465517 0 0 0 0 0 0 1 0 0 ENSG00000276352 chr14 101055258 101055323 + MIR668 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768214 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000276353 chr8 54130582 54130860 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276359 chr1 164703026 164703309 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276362 chr2 84850711 84851148 + AC010087.1 unprocessed_pseudogene 0 2 0 0 0 0 1 0 0 ENSG00000276365 chr5 149430646 149430733 + MIR145 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406937 GO:0070062, extracellular exosome, GO:1903231, GO:0003730, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, RNA polymerase II complex binding, GO:2000724, GO:1905175, GO:1904676, GO:1904673, GO:1900239, GO:0090263, GO:0070372, GO:0060414, GO:0051898, GO:0050728, GO:0048662, GO:0048333, GO:0045651, GO:0044663, GO:0043032, GO:0038166, GO:0036446, GO:0035886, GO:0035278, GO:0035195, GO:0035195, GO:0032965, GO:0032733, GO:0032699, GO:0030336, GO:0030036, GO:0016525, GO:0010763, GO:0010668, GO:0010667, GO:0010667, GO:0010614, GO:0006940, positive regulation of cardiac vascular smooth muscle cell differentiation, negative regulation of vascular associated smooth muscle cell dedifferentiation, negative regulation of somatic stem cell division, negative regulation of somatic stem cell population maintenance, regulation of phenotypic switching, positive regulation of canonical Wnt signaling pathway, regulation of ERK1 and ERK2 cascade, aorta smooth muscle tissue morphogenesis, negative regulation of protein kinase B signaling, negative regulation of inflammatory response, negative regulation of smooth muscle cell proliferation, mesodermal cell differentiation, positive regulation of macrophage differentiation, establishment or maintenance of cell type involved in phenotypic switching, positive regulation of macrophage activation, angiotensin-activated signaling pathway, myofibroblast differentiation, vascular associated smooth muscle cell differentiation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, regulation of collagen biosynthetic process, positive regulation of interleukin-10 production, negative regulation of interleukin-16 production, negative regulation of cell migration, actin cytoskeleton organization, negative regulation of angiogenesis, positive regulation of fibroblast migration, ectodermal cell differentiation, negative regulation of cardiac muscle cell apoptotic process, negative regulation of cardiac muscle cell apoptotic process, negative regulation of cardiac muscle hypertrophy, regulation of smooth muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000276366 chr2 240289216 240289443 + RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000276368 chr6 27814354 27814740 - HIST1H2AJ protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8331 0 0 0 0 0 0 0 0 0 ENSG00000276375 chr10 130282445 130286604 - AL157712.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276376 chr15 90076424 90076486 + RF00066 snRNA 4 9 6 3 12 2 7 5 4 ENSG00000276380 chrX 143884071 143885255 + UBE2NL polymorphic_pseudogene This gene is intronless and encodes a member of the ubiquitin-conjugating enzyme family. The protein product is 91% identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene product. This locus represents a polymorphic pseudogene, where some individuals contain an allele that can encode a full-length protein, while others have a non-functional allele containing a premature stop codon (reference SNP rs237520) that truncates the coding sequence. [provided by RefSeq, Jun 2014]. 389898 GO:0070062, GO:0005634, extracellular exosome, nucleus, GO:0061631, ubiquitin conjugating enzyme activity, GO:0070534, GO:0006301, GO:0000209, protein K63-linked ubiquitination, postreplication repair, protein polyubiquitination, 2 0 0 0 0 1 1 0 1 ENSG00000276384 chr17 7557820 7558245 - AC016876.3 antisense 2 2 2 1 0 1 6 2 1 ENSG00000276385 chr20 8934984 8935481 - AL445567.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276386 chr9 67059560 67293468 + CNTNAP3P2 unprocessed_pseudogene 19 14 43 15 20 12 23 10 34 ENSG00000276388 chr9 138129399 138129526 + AL591424.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276390 chr12 47699401 47699917 - AC004241.3 sense_intronic 8 4 12 2 10 10 2 8 6 ENSG00000276391 chrX 85207187 85210649 + AC003001.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276393 chr16 87467138 87467654 + AC105429.2 unprocessed_pseudogene 0 0 0 0 1 0 1 0 0 ENSG00000276396 chr4 139155153 139155444 + RF00017 misc_RNA 3 0 0 1 0 0 4 1 2 ENSG00000276397 chr18 76690029 76693636 + LINC01879 lincRNA 400661 0 0 0 0 0 0 0 0 0 ENSG00000276398 chr12 97560856 97561048 + RF01970 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276399 chr17 22406019 22413744 + FLJ36000 lincRNA 284124 0 0 0 0 0 0 0 0 0 ENSG00000276400 chr22 17021398 17022570 - VN1R9P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276403 chr18 58476191 58477484 + AC105105.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276404 chr6 34240673 34240736 + MIR6835 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465502 1 0 0 3 9 12 11 2 12 ENSG00000276405 chr7 142535809 142536292 + TRBV13 TR_V_gene 0 0 0 1 0 5 0 0 0 ENSG00000276406 chr17 19868568 19868689 + AC015726.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276407 chr3 194070103 194080443 + AC024559.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276408 chr16 75556392 75557059 + AC025287.2 lincRNA 0 0 1 1 2 0 0 0 0 ENSG00000276409 chr17 35983291 35987004 - CCL14 protein_coding This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009]. 6358 GO:0005615, extracellular space, GO:0048020, GO:0008009, CCR chemokine receptor binding, chemokine activity, GO:0071356, GO:0071347, GO:0071346, GO:0070374, GO:0070098, GO:0048247, GO:0043547, GO:0030593, GO:0008284, GO:0007186, GO:0006954, GO:0006874, GO:0002548, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interferon-gamma, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, lymphocyte chemotaxis, positive regulation of GTPase activity, neutrophil chemotaxis, positive regulation of cell population proliferation, G protein-coupled receptor signaling pathway, inflammatory response, cellular calcium ion homeostasis, monocyte chemotaxis, 0 0 0 0 0 0 0 0 0 ENSG00000276410 chr6 26043277 26043657 - HIST1H2BB protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 3018 GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005634, GO:0000786, GO:0000781, cytosol, nucleoplasm, nucleoplasm, nucleus, nucleus, nucleosome, chromosome, telomeric region, GO:0046982, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, DNA binding, GO:0016567, GO:0006334, GO:0006334, protein ubiquitination, nucleosome assembly, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000276411 chr2 11673964 11676925 - AC106875.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276412 chr9 41651935 41652172 - AL591926.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276413 chr6 159555964 159556174 + AL078604.3 processed_pseudogene 0 2 0 0 2 0 2 2 0 ENSG00000276417 chr12 8205984 8207397 + AC092111.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000276418 chr8 79918860 80080775 - AC036214.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000276422 chr9 60943311 60964185 - AL590491.2 lincRNA 0 2 3 1 2 2 1 17 0 ENSG00000276426 chr5 91844022 91844116 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276427 chr22 20632619 20632751 + IGLL4P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276428 chr14 22066016 22066373 + AC245505.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276430 chr10 47995355 47999791 - FAM25C protein_coding 644054 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000276431 chr12 30169881 30170091 - AC023511.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276434 chr13 113339450 113339958 - AL136221.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000276436 chr13 49792886 49793307 + AL136301.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000276442 chr1 144265217 144265326 + RNA5SP529 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000276443 chr8 127794541 127794734 + RF02164 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276445 chr19 39812972 39813555 - AC005393.1 lincRNA 0 0 0 2 5 2 1 0 0 ENSG00000276449 chr19 57449689 57453011 + AC004076.2 antisense 0 0 2 0 2 3 1 0 1 ENSG00000276454 chr12 47265665 47266108 + AC008083.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276457 chr9 66744561 66745929 - FKBP4P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276460 chr2 131398439 131401250 - AC073869.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276462 chr9 41100794 41106229 - BX255923.2 lincRNA 440896 0 2 0 0 0 0 0 0 0 ENSG00000276467 chrX 17897711 17900333 - Z93929.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276470 chr1 11843812 11843984 + RF02156 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276471 chr3 72080564 72084641 - AC105265.4 lincRNA 24 8 19 16 15 43 12 11 33 ENSG00000276473 chr15 61239906 61240331 + AC107905.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276474 chrX 52326166 52326762 + AC231759.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276475 chr7 64590599 64591133 - AC016769.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276476 chr13 22040975 22276524 + LINC00540 lincRNA 100506622 0 1 4 4 1 5 2 0 3 ENSG00000276478 chr9 87799501 87821803 - AL772337.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276479 chr8 119325171 119325265 + MIR548AZ miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466162 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000276484 chr16 18313294 18316984 + AC126755.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276486 chr18 31883288 31883728 + AC022960.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276487 chr12 128187934 128191389 - AC061709.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276488 chr19 55612490 55613097 - AC008735.4 antisense 10 11 12 33 27 38 16 13 12 ENSG00000276489 chr3 195882329 195882395 - MIR6829 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465977 0 0 0 0 0 0 0 0 0 ENSG00000276490 chr10 94688154 94853073 + AL583836.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000276493 chr1 32087523 32087813 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276494 chr11 2674625 2674740 + RF01948 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000276496 chr7 27186166 27186263 + RF02139 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276500 chr9 40505399 40566281 - BMS1P14 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276502 chr9 41310816 41332962 - AL354718.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276505 chr11 117297005 117297328 - AP000892.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000276507 chr4 29010619 29011021 - AC068944.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276508 chr17 36684754 36685129 + AC243830.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276509 chr1 146235806 146237807 + AC239799.2 lincRNA 1 0 5 0 3 0 1 0 0 ENSG00000276514 chr5 94877599 94877777 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276517 chr2 32526504 32529507 + AL133243.3 sense_intronic 18 36 29 46 61 40 30 32 36 ENSG00000276519 chr16 81987948 81989016 + AC092142.2 lincRNA 0 0 0 0 1 1 0 0 0 ENSG00000276520 chr1 248708202 248708641 + CR589904.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276521 chr11 102963460 102966628 - AP001486.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276522 chr9 61427617 61427877 - RN7SL462P misc_RNA 0 0 1 1 0 0 7 0 0 ENSG00000276523 chr16 75572185 75572685 - AC025287.3 antisense 28 69 48 67 72 98 166 96 108 ENSG00000276524 chr15 56887107 56888219 + AC010999.2 lincRNA 2 0 0 0 0 0 1 0 0 ENSG00000276525 chr20 10025917 10026168 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276527 chr13 44684487 44715393 - AL356515.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276528 chr7 27096124 27096248 + RF01975 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276529 chr21 44978832 44979274 + AP001505.1 lincRNA 3 19 7 5 12 12 4 6 1 ENSG00000276530 chr11 32439086 32439206 + RF02208 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276531 chr10 72483245 72483812 + AC091769.1 unprocessed_pseudogene 4 0 1 0 0 0 0 0 0 ENSG00000276532 chr17 18605054 18605356 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276533 chr15 55288849 55289346 - AC018926.2 sense_intronic 4 5 11 10 14 24 20 18 59 ENSG00000276535 chr9 88144851 88145850 - AL353726.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276538 chr7 150047609 150047854 - AC092666.2 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000276540 chr8 85744543 85748373 - REXO1L10P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276542 chr4 89748283 89749154 + AC097478.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276544 chr10 47692399 47692727 - RN7SL453P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276545 chr5 141439853 141442449 + PCDHGB9P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276546 chr21 7663911 7664011 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276547 chr5 141397987 141512979 + PCDHGB5 protein_coding This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 56101 GO:0070062, GO:0005887, extracellular exosome, integral component of plasma membrane, GO:0005509, GO:0003674, calcium ion binding, molecular_function, GO:0008150, GO:0007156, GO:0007155, biological_process, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 1 ENSG00000276548 chr16 21401089 21401198 + AC008740.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 4 ENSG00000276550 chr15 22495570 22590815 + HERC2P2 transcribed_unprocessed_pseudogene 10 20 42 35 13 79 17 24 50 ENSG00000276556 chr21 10640028 10640338 - AF254982.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276557 chr7 142615716 142616415 + TRBV18 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000276562 chr9 41578903 41579186 + RN7SL565P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276563 chr1 178017127 178017343 + AL359075.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276564 chr16 14150833 14153235 + AC130650.2 lincRNA 0 0 4 1 1 1 1 0 0 ENSG00000276566 chr2 90154073 90154574 + IGKV1D-13 IG_V_gene 0 0 0 0 0 2 0 0 0 ENSG00000276568 chr19 6928345 6928629 + RF00017 misc_RNA 0 5 5 0 0 0 0 0 3 ENSG00000276569 chr13 43179501 43181193 - AL138709.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276570 chr19 55227219 55230279 - AC010327.5 processed_transcript 17 11 24 25 38 14 42 30 22 ENSG00000276571 chr16 19694035 19694428 - AC002550.2 antisense 0 0 0 8 3 12 4 0 1 ENSG00000276573 chr13 97435946 97436168 + AL442067.1 sense_intronic 0 3 2 0 1 0 0 1 0 ENSG00000276575 chrX 53195411 53195488 - MIR6895 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465539 1 0 1 3 1 0 2 8 1 ENSG00000276576 chr6 57029521 57029988 + MRPL30P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276577 chr17 20323001 20323110 + RNU6-467P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000276578 chr19 56485923 56494280 - AC004696.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276580 chr8 6622124 6622220 - MIR8055 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465861 0 0 0 0 5 0 0 0 0 ENSG00000276581 chr9 60914374 60920650 + SPATA31A5 protein_coding 727905 GO:0016021, integral component of membrane, GO:0030154, GO:0007283, cell differentiation, spermatogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000276584 chr1 153962351 153962420 - MIR6737 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465441 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000276586 chr13 62397645 62397916 + AL356102.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276588 chr19 47581023 47581321 + RN7SL322P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276591 chr9 42974855 42978320 + GXYLT1P5 transcribed_processed_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000276592 chr7 75203926 75204711 + PHBP6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276593 chr15 49353485 49354034 + AC022306.3 sense_intronic 0 0 0 0 2 0 0 0 0 ENSG00000276596 chr17 43266633 43266823 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000276597 chr7 142554836 142555318 + TRBV11-3 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000276598 chr8 144435551 144435619 - MIR6893 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466271 0 0 0 0 0 0 0 0 0 ENSG00000276599 chr16 35746523 35746636 + RNA5SP411 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276600 chr1 205976740 206003461 - RAB7B protein_coding 338382 GO:0045335, GO:0045335, GO:0031902, GO:0030670, GO:0005802, GO:0005794, GO:0005770, GO:0005770, GO:0005764, GO:0005764, phagocytic vesicle, phagocytic vesicle, late endosome membrane, phagocytic vesicle membrane, trans-Golgi network, Golgi apparatus, late endosome, late endosome, lysosome, lysosome, GO:0005525, GO:0005515, GO:0003924, GTP binding, protein binding, GTPase activity, GO:0090385, GO:0071346, GO:0051092, GO:0045654, GO:0034499, GO:0034164, GO:0034144, GO:0032755, GO:0015031, GO:0008333, phagosome-lysosome fusion, cellular response to interferon-gamma, positive regulation of NF-kappaB transcription factor activity, positive regulation of megakaryocyte differentiation, late endosome to Golgi transport, negative regulation of toll-like receptor 9 signaling pathway, negative regulation of toll-like receptor 4 signaling pathway, positive regulation of interleukin-6 production, protein transport, endosome to lysosome transport, 1 2 0 1 1 0 12 1 4 ENSG00000276601 chr17 58785323 58785608 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276603 chr20 37526642 37527060 - AL109614.1 sense_intronic 7 21 7 3 3 4 3 3 3 ENSG00000276605 chr8 54354168 54355118 + AC027250.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276609 chr7 27200465 27200521 + RF02040 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276610 chr15 24985100 24985166 + SNORD64 snoRNA This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]. 347686 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000276612 chr21 5116343 5133805 - FP565260.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000276620 chr6 107192300 107192573 + AL591516.1 processed_pseudogene 0 0 0 2 0 0 1 0 0 ENSG00000276622 chr5 151522087 151522148 - MIR6499 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465246 0 0 0 1 0 0 0 0 0 ENSG00000276623 chr4 165016887 165017433 + AC106872.12 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276626 chr3 124792319 124792562 - RF00100 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276627 chr20 60761874 60767279 + AL117372.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276631 chr19 29222542 29223137 + AC007786.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276632 chr1 159649151 159649620 + AL445528.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276633 chr21 45870854 45873345 + AJ011931.1 sense_intronic 1 0 0 0 0 0 0 0 0 ENSG00000276637 chr11 49067610 49069301 + AC084851.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276638 chr20 23489416 23489973 - AL109954.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276639 chr11 45691704 45691776 - MIR7154 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465691 0 0 0 0 0 0 0 0 0 ENSG00000276641 chr16 4671318 4671390 + MIR6769A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466731 0 0 1 5 0 2 0 1 7 ENSG00000276642 chr1 220825776 220825893 + RF00619 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000276643 chr6 166099853 166099924 + RF00279 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000276644 chr13 71437966 71867192 - DACH1 protein_coding This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 1602 GO:0005737, GO:0005667, GO:0005634, cytoplasm, transcription regulator complex, nucleus, GO:0005515, GO:0001227, GO:0000981, GO:0000978, GO:0000978, GO:0000977, protein binding, DNA-binding transcription repressor activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:2000279, GO:0060244, GO:0048147, GO:0046545, GO:0045892, GO:0033262, GO:0030336, GO:0010944, GO:0008283, GO:0007585, GO:0006357, GO:0001967, GO:0000122, negative regulation of DNA biosynthetic process, negative regulation of cell proliferation involved in contact inhibition, negative regulation of fibroblast proliferation, development of primary female sexual characteristics, negative regulation of transcription, DNA-templated, regulation of nuclear cell cycle DNA replication, negative regulation of cell migration, negative regulation of transcription by competitive promoter binding, cell population proliferation, respiratory gaseous exchange by respiratory system, regulation of transcription by RNA polymerase II, suckling behavior, negative regulation of transcription by RNA polymerase II, 52 51 69 8 30 23 36 9 9 ENSG00000276645 chr1 33029232 33029576 - RF00017 misc_RNA 2 2 0 0 0 0 0 2 0 ENSG00000276647 chr21 44686358 44686629 + KRTAP12-6P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276649 chr20 1888128 1894374 - AL117335.1 antisense 127 147 244 40 100 94 66 88 60 ENSG00000276650 chr7 64425623 64426334 - AC022202.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276651 chr15 63500737 63503083 - AC007950.2 lincRNA 1 2 0 2 1 7 2 2 10 ENSG00000276653 chr2 25058032 25058329 + RN7SL856P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276656 chr3 124374332 124374437 + MIR6083 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464832 0 0 0 0 0 0 0 0 0 ENSG00000276662 chr10 147820 148751 - AL713922.2 unprocessed_pseudogene 0 0 1 0 0 3 2 0 3 ENSG00000276663 chr16 57245832 57246396 - AC009090.3 antisense 5 0 3 4 9 5 3 4 1 ENSG00000276664 chr22 30971005 30971149 + RF01882 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276667 chr9 19895800 19895973 - AL158077.1 unprocessed_pseudogene 1 0 0 0 1 1 0 0 0 ENSG00000276668 chr11 7699562 7699988 - AC104237.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000276669 chr11 86216596 86216878 + RF00017 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000276670 chr2 44940045 44940245 + RF02252 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276672 chr13 33846190 33850825 + AL161891.1 sense_intronic 13 3 7 7 1 6 11 2 10 ENSG00000276673 chr8 76733302 76733476 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276674 chr1 144085628 144086098 + IGKV1OR1-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276675 chr22 28002484 28002595 + RF02201 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276678 chr3 10287413 10287482 + RF02126 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276680 chr6 144007227 144007464 + RF02143 misc_RNA 0 1 0 1 0 0 1 0 3 ENSG00000276685 chr8 46028804 46028892 - RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276687 chr6 905445 909006 - AL356130.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276688 chr20 5407564 5407876 + AL121757.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276689 chrX 65786763 65787169 + AL450487.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276690 chr3 181699608 181699883 + RF01953 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276691 chr12 47788426 47788971 + AC004466.3 antisense 4 2 7 3 2 13 6 3 1 ENSG00000276692 chr9 39873931 39874390 - CR769767.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276693 chr12 132169823 132170043 + AC138466.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276696 chr15 56634038 56634167 - RF00019 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000276698 chr14 24198433 24199090 + AL136295.6 lincRNA 30 21 35 26 11 9 12 11 11 ENSG00000276699 chr14 22505110 22505167 + TRAJ36 TR_J_gene 0 0 1 0 0 0 4 2 0 ENSG00000276702 chr15 33850538 33851178 - AC010809.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276703 chr6 134211450 134211527 + RPS29P32 processed_pseudogene 1 5 0 0 0 0 0 0 0 ENSG00000276704 chr13 97437268 97437630 + AL442067.2 sense_intronic 2 1 0 0 1 5 1 1 0 ENSG00000276706 chr2 144705217 144705419 + RF01992 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000276707 chr17 36940049 36943456 - AC243773.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276710 chr15 82459472 82477258 + CSPG4P10 transcribed_unprocessed_pseudogene 0 1 0 4 3 0 1 0 1 ENSG00000276712 chr6 35470508 35470579 + MIR7111 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465668 0 0 0 1 0 1 1 0 4 ENSG00000276713 chr15 62244330 62244595 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276715 chr17 37828305 37884743 - YWHAEP7 transcribed_unprocessed_pseudogene 284100 0 0 0 0 0 0 0 0 0 ENSG00000276717 chr9 92177235 92188652 - AL136097.3 unprocessed_pseudogene 138652 GO:0005615, extracellular space, GO:0004252, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000276718 chr12 6466537 6467135 + AC005840.4 antisense 17 14 16 42 46 31 47 15 31 ENSG00000276721 chr16 21833516 21833621 + AC092375.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276722 chr20 58842433 58842546 + RF02128 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276723 chr9 65573384 65573495 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276724 chr15 32583612 32584312 + AC123768.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276727 chr12 57229498 57230198 - AC137834.2 antisense 4 5 4 2 1 10 6 5 2 ENSG00000276728 chr17 45146730 45148470 - AC142472.1 lincRNA 15 14 16 30 32 8 28 16 18 ENSG00000276729 chr19 50019019 50019320 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276730 chr9 36072686 36072762 + RF02275 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276733 chr2 5974662 5974732 + MIR7158 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465693 0 0 0 0 0 0 0 0 0 ENSG00000276735 chr1 193236794 193237107 - RF00017 misc_RNA 0 1 2 1 0 5 9 0 7 ENSG00000276738 chr21 20597953 20598163 + AP001506.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276740 chr13 107465984 107466674 - AL445649.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000276742 chr10 121956782 121957098 + AL731566.2 antisense 0 0 1 0 0 0 0 0 0 ENSG00000276744 chr15 75452964 75453947 - AC105137.2 sense_intronic 3 4 1 1 3 5 5 1 0 ENSG00000276746 chr6 33562880 33563130 - RF00017 misc_RNA 0 0 0 0 2 0 0 0 0 ENSG00000276747 chr1 17372196 17401699 + PADI6 protein_coding This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]. 353238 GO:0045111, GO:0005737, GO:0005737, GO:0005634, intermediate filament cytoskeleton, cytoplasm, cytoplasm, nucleus, GO:0005515, GO:0005509, GO:0004668, protein binding, calcium ion binding, protein-arginine deiminase activity, GO:0043143, GO:0036414, GO:0007028, GO:0007010, regulation of translation by machinery localization, histone citrullination, cytoplasm organization, cytoskeleton organization, 2 5 0 1 11 0 0 5 4 ENSG00000276753 chr22 49962866 49962939 + MIR6821 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465493 GO:0070062, extracellular exosome, 0 0 0 0 0 2 1 0 4 ENSG00000276754 chr16 3686998 3687380 + AC006111.3 antisense 2 0 0 3 0 1 1 2 0 ENSG00000276755 chr17 36234447 36234554 - AC243829.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276756 chr1 144276484 144305180 - AC245595.2 transcribed_unprocessed_pseudogene 101927429 0 0 0 0 0 0 0 0 0 ENSG00000276757 chr19 11011708 11012006 + RN7SL192P misc_RNA 1 0 4 0 3 0 0 0 0 ENSG00000276758 chr19 54296194 54296252 - AC245884.12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276759 chr9 26066675 26118408 + AL353753.1 lincRNA 100506422 GO:0004170, GO:0000287, dUTP diphosphatase activity, magnesium ion binding, GO:0046081, GO:0006226, dUTP catabolic process, dUMP biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000276763 chr3 108574683 108575064 + AC069499.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276764 chr5 18958147 18958413 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276765 chr13 110340958 110341029 + MIR8073 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465872 0 0 0 0 0 0 0 0 0 ENSG00000276768 chr20 5049857 5050321 - AL121890.2 lincRNA 2 3 1 0 0 7 3 2 3 ENSG00000276769 chr11 67490245 67490315 + MIR6752 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465450 0 0 0 0 0 0 0 0 0 ENSG00000276770 chr6 43434542 43434620 + MIR6780B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466746 0 0 0 0 0 0 0 0 0 ENSG00000276771 chr7 27098900 27099114 + RF01976 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276772 chr15 57553955 57555680 + AC025271.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276775 chr14 106011922 106012420 - IGHV4-4 IG_V_gene 0 0 0 1 2 0 0 0 0 ENSG00000276778 chr5 158320683 158409773 - LINC02227 lincRNA 101927697 0 0 0 1 0 0 0 0 0 ENSG00000276782 chr14 82429872 82430156 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276784 chrX 73944595 73944663 + RF02125 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276786 chr20 61369879 61370855 + BX640515.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276788 chr11 62855292 62855366 - SNORD26 snoRNA 9302 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000276789 chr11 18836304 18837081 + AC103974.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276790 chr17 47279526 47280047 - AC068234.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276791 chr16 2777319 2780568 + AC092117.1 lincRNA 13 4 9 7 14 16 5 8 8 ENSG00000276795 chr9 61912704 61913115 + AL391987.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276800 chr22 21463963 21464279 + RF00017 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000276805 chr10 38403189 38452153 + AL133216.2 transcribed_unprocessed_pseudogene 24 29 47 13 36 44 17 19 60 ENSG00000276807 chr15 73730048 73731711 - AC022188.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276809 chr13 95744726 95745765 + AL138955.1 sense_intronic 6 16 18 3 17 18 13 10 13 ENSG00000276810 chr17 37162616 37163139 + AC244093.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276814 chr12 48039784 48040761 - AC004801.6 lincRNA 5 7 6 2 3 4 1 4 0 ENSG00000276819 chr7 142592928 142593473 + TRBV15 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000276822 chr16 74393076 74393183 - AC009053.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276823 chrX 48524480 48524806 + RF00017 misc_RNA 0 0 0 1 0 0 0 0 0 ENSG00000276824 chr6 33899135 33899200 + MIR7159 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466816 0 0 0 0 0 0 0 0 0 ENSG00000276828 chr2 189625443 189626259 - AC012488.1 unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000276829 chrY 22861112 22861834 - AC016911.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276830 chr1 12578957 12579023 - MIR6730 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466722 0 0 0 0 0 0 0 0 0 ENSG00000276831 chr19 55338945 55339283 - AC020922.4 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000276832 chr9 41341000 41342041 - AL354718.3 unprocessed_pseudogene 0 1 0 0 0 5 2 0 0 ENSG00000276835 chr1 22633258 22633366 - MIR6127 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466615 0 0 0 0 0 0 0 0 0 ENSG00000276839 chr1 182576772 182577040 - RF00017 misc_RNA 3 1 0 0 0 5 0 0 0 ENSG00000276840 chr7 75288120 75299795 - PMS2P10 unprocessed_pseudogene 1 0 3 2 1 0 1 1 2 ENSG00000276841 chr13 70564267 70564437 - AL445264.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276842 chr12 25103124 25103869 - AC023510.2 antisense 463 553 631 614 1167 1215 671 780 862 ENSG00000276844 chr15 25266591 25266661 + SNORD115-46 snoRNA 100873857 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000276845 chr9 61944232 61945136 - CR769775.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276846 chr19 37314868 37315620 - AC016590.3 antisense 0 0 0 1 0 0 1 0 0 ENSG00000276850 chr10 47908064 47991850 - AC245041.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276851 chr17 50094065 50094647 + AC002401.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276853 chr12 65171262 65171917 + AC026124.2 sense_intronic 10 8 12 23 10 28 16 11 30 ENSG00000276854 chr13 44196006 44197298 + AL589745.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276855 chr17 15789016 15789705 + AC015922.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276857 chr10 112299612 112299690 + MIR6715A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466189 0 0 0 0 0 0 0 0 0 ENSG00000276859 chr20 58842030 58842132 + RF02127 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276861 chr2 89600571 89600680 + RF00001 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000276863 chr17 80333841 80334366 - AC124319.3 antisense 70 66 111 16 56 47 46 35 42 ENSG00000276866 chr10 67403351 67403410 - MIR7151 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466814 0 0 0 0 0 0 0 0 0 ENSG00000276867 chr16 31704728 31705260 + AC074050.4 lincRNA 0 0 0 0 0 0 4 0 1 ENSG00000276868 chr9 40883634 40883763 + AL353626.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276869 chr1 12029158 12029222 + MIR6729 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466982 0 0 0 0 0 0 0 0 0 ENSG00000276871 chr22 11249809 11249959 - RF00002 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000276873 chr21 39171462 39171560 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276874 chr22 18374106 18375689 + AC011718.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276878 chr12 66023620 66023726 - MIR6074 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464827 0 0 0 0 0 0 0 0 0 ENSG00000276884 chr1 63548977 63549112 - RF02110 misc_RNA 0 0 0 0 0 1 0 0 1 ENSG00000276888 chr14 19420975 19425017 + AL512624.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000276890 chr3 72926955 72927237 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276891 chr15 28387196 28387485 + RN7SL238P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276892 chrX 85851575 85851682 - AL022401.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276894 chr9 66641314 66642277 - RAB28P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276897 chrX 52409772 52410432 - AC231532.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276898 chr9 67512034 67515393 - BX664730.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276900 chr12 31729117 31731204 + AC023157.3 antisense 1666 2367 3222 2676 3962 6167 3384 4404 6460 ENSG00000276902 chr21 6365955 6366055 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276903 chr6 27865355 27865747 + HIST1H2AL protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8332 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0019899, GO:0005515, GO:0003677, protein heterodimerization activity, enzyme binding, protein binding, DNA binding, GO:0008150, GO:0006342, biological_process, chromatin silencing, 1 1 2 0 1 0 2 1 5 ENSG00000276904 chr10 133756559 133757825 + DUX4L14 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276908 chr12 113159113 113159177 - MIR7106 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466222 0 0 0 0 0 0 0 0 0 ENSG00000276915 chr20 6220330 6220759 + AL109618.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276916 chr13 113511747 113514473 + AL442125.2 sense_intronic 7 6 18 0 0 7 0 2 0 ENSG00000276917 chr2 79866495 79866583 - MIR8080 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465877 0 0 0 0 0 0 0 0 0 ENSG00000276918 chr11 66374138 66374435 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276919 chr14 100829350 100829454 + RF01872 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276923 chr20 48073869 48074188 + AL139351.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276925 chr3 47469777 47469987 + AC099778.2 processed_pseudogene 3 4 3 6 4 1 0 2 0 ENSG00000276926 chr19 41869627 41869698 + MIR6797 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465478 GO:0070062, extracellular exosome, 0 0 0 0 0 0 3 0 0 ENSG00000276928 chr15 28416449 28416674 + AC091304.9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276929 chrX 55137930 55142433 + AL590240.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276931 chr16 968375 969012 - AC009041.4 sense_intronic 0 0 0 0 1 0 1 0 0 ENSG00000276934 chr18 74504766 74505248 + AC009704.2 sense_intronic 0 0 0 8 0 4 0 1 3 ENSG00000276940 chrX 30290047 30290351 - PLCE1P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276941 chr15 23197827 23197920 + MIR4509-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616223 0 0 0 0 0 0 0 0 0 ENSG00000276945 chr5 61145846 61146376 - AC008498.1 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000276949 chr2 240672530 240672812 + AC011298.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276950 chr22 23998401 24005453 - GSTT4 protein_coding 25774 GO:0005737, cytoplasm, GO:0004364, glutathione transferase activity, GO:0006749, glutathione metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000276951 chr11 3289311 3289642 - AC109309.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276952 chr20 25284915 25285588 - AL121772.3 antisense 0 2 4 3 7 0 2 8 0 ENSG00000276953 chr7 142563740 142564245 + TRBV12-4 TR_V_gene 0 0 3 6 3 9 1 0 10 ENSG00000276955 chr15 28524151 28524440 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276956 chr12 110360452 110360746 - RN7SL769P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276957 chr13 102593338 102593873 - AL158063.1 lincRNA 0 0 0 1 1 0 1 1 0 ENSG00000276958 chr13 25017766 25017903 - AL590099.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276960 chr6 160755398 160757518 - AL109933.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276961 chr8 133046481 133046581 - MIR7848 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466865 41 36 41 13 5 9 1 9 8 ENSG00000276963 chr9 40755407 40767875 - AL353626.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276964 chr10 133673749 133675017 + DUX4L23 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000276965 chr22 30972857 30973093 + RF01891 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276966 chr6 26204552 26206038 + HIST1H4E protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8367 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 6 11 17 4 43 27 11 54 49 ENSG00000276968 chr13 48041751 48042184 - AL158196.1 antisense 0 1 6 3 3 0 0 0 6 ENSG00000276972 chr12 115332146 115332566 - AC078880.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276975 chr1 146472566 146914294 + HYDIN2 transcribed_unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000276980 chr19 6716386 6717742 - AC008760.2 sense_intronic 2 0 2 0 0 0 1 0 0 ENSG00000276984 chr16 424243 424543 - AL023881.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276988 chr7 128483907 128484158 - RF00017 misc_RNA 0 0 1 0 0 0 0 0 0 ENSG00000276991 chr22 26673254 26673630 + RF01877 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000276992 chr4 104996900 104997052 - AC096577.2 processed_pseudogene 0 0 0 4 2 2 0 1 4 ENSG00000276993 chr18 75387056 75387596 + AC116003.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000276997 chr1 222477252 222504622 - AL513314.2 lincRNA 5 8 28 1 33 13 4 7 18 ENSG00000276998 chr8 85775106 85779090 - REXO1L2P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277000 chr3 100221268 100223858 - DUSP12P1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277001 chr5 91314716 91314997 - RF00017 misc_RNA 0 0 3 1 0 3 5 3 0 ENSG00000277003 chr16 69975238 69975344 + AC026468.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277004 chr16 35746772 35746894 + RNA5SP412 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277007 chr1 219270774 219273387 + AC096642.1 lincRNA 0 0 0 2 4 2 0 3 0 ENSG00000277008 chrX 154159357 154176349 - TEX28P2 unprocessed_pseudogene 0 1 0 4 1 1 0 1 0 ENSG00000277009 chrX 154233615 154251288 - AC244097.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277010 chr16 1223639 1224143 + AC120498.10 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277011 chr12 132282814 132284606 + AC148477.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277013 chr19 33906352 33908391 + AC008556.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277014 chr16 18494493 18494576 - MIR3179-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504729 0 0 0 0 0 0 0 0 0 ENSG00000277017 chr22 18486999 18491247 - AC023490.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277020 chr13 20564708 20567045 - AL590096.1 antisense 0 0 1 5 3 14 3 3 5 ENSG00000277022 chr20 45435272 45448325 - AL031663.3 lincRNA 4 0 1 4 5 1 2 1 2 ENSG00000277024 chr9 39359890 39369105 - BX005214.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277027 chr9 35657754 35658017 - RMRP ribozyme 0 0 0 0 0 0 0 0 0 ENSG00000277029 chr17 36404826 36404932 - RNU6-1192P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277030 chr14 105640168 105640232 + MIR8071-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466889 0 0 0 0 0 0 0 0 0 ENSG00000277031 chr15 30560644 30560934 + RN7SL796P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277034 chr20 38421647 38421774 - RF00056 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000277035 chr2 28134408 28134585 - RF02271 misc_RNA 0 0 0 0 3 0 1 1 0 ENSG00000277039 chr5 154821943 154822258 + RF00017 misc_RNA 0 0 0 0 0 5 5 0 0 ENSG00000277040 chr13 24323021 24323457 + AL359736.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277041 chr16 22537478 22537584 - AC106788.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277043 chr6 49358185 49360420 - EEF1A1P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277047 chr13 54940843 54986719 + AL390964.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277049 chr9 41237440 41237557 - RNA5SP530 rRNA 0 0 0 1 1 2 0 0 0 ENSG00000277050 chr14 51637348 51637947 - AL122125.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277051 chr20 45847630 45847940 - RF00017 misc_RNA 0 0 0 0 0 0 3 0 0 ENSG00000277052 chr12 132581997 132582061 + MIR6763 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465975 0 3 2 0 1 8 0 0 0 ENSG00000277053 chr7 75185385 75237696 - GTF2IP1 transcribed_unprocessed_pseudogene 2970 173 405 222 119 300 150 138 168 84 ENSG00000277056 chr10 66837457 66837704 + AL607023.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277057 chr17 38914979 38915042 + MIR6779 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465467 0 0 1 3 2 4 2 1 4 ENSG00000277058 chr1 13060869 13062229 + HNRNPCL3 protein_coding 649330 GO:0005634, nucleus, GO:0003723, RNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000277062 chr12 96101951 96102249 - RN7SL88P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277063 chr8 93029751 93029839 + MIR8084 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102467005 0 0 0 0 0 0 0 0 0 ENSG00000277066 chr13 50045143 50045232 + RF02106 misc_RNA 9 11 7 14 16 15 21 10 7 ENSG00000277067 chr21 7048891 7087229 + CU634019.1 lincRNA 102724843 0 0 0 0 0 0 0 0 0 ENSG00000277072 chr7 74882163 74890610 - STAG3L2 transcribed_unprocessed_pseudogene 27 51 31 14 44 55 33 26 30 ENSG00000277073 chr5 10478037 10478145 + MIR6131 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465138 1 0 0 0 1 3 5 1 0 ENSG00000277075 chr6 26216975 26217483 + HIST1H2AE protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 3012 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, DNA binding, GO:0008285, GO:0006342, negative regulation of cell population proliferation, chromatin silencing, 27 52 43 11 38 15 8 42 18 ENSG00000277077 chr13 21287634 21287828 - AL158032.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277081 chr12 97564174 97564327 + RF01971 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277083 chr7 142287251 142291597 - PRSS3P3 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277084 chr17 43387226 43387417 - RNU2-4P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277087 chr20 5045761 5046276 - AL121890.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277089 chr17 36072866 36090134 + AC243829.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277095 chr1 143354191 143386122 + AC242852.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277096 chr4 43388157 43388437 + AC098590.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277099 chr1 242060490 242062595 - BX571673.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277103 chr9 97151894 97152694 - AL445670.1 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000277108 chr17 16439505 16439576 + SNORD49B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000277109 chr9 61581813 61582675 + AL935212.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277112 chr20 30656033 30723932 - ANKRD20A21P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277117 chr21 5022493 5040666 + FP565260.3 protein_coding 102723996 3 2 1 4 5 0 6 0 1 ENSG00000277118 chr3 186076306 186076591 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277119 chr11 32440109 32440383 + RF02210 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277120 chrX 2609191 2609254 + MIR6089 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464837 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000277124 chr7 96965489 96965695 + RF01888 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277125 chr7 73065529 73077353 + AC211476.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000277127 chr7 75057877 75058188 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277128 chr14 19124807 19175530 - AL589743.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277129 chr12 53968351 53968501 + AC012531.4 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277130 chr12 79818784 79819465 - AC073569.3 sense_intronic 7 5 2 23 22 28 19 13 21 ENSG00000277133 chr10 38617255 38617344 + AL133173.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277135 chr15 96139472 96140452 - AC012409.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277136 chr19 41442102 41442392 - RF00017 misc_RNA 0 0 0 0 0 5 0 0 0 ENSG00000277138 chr7 135206994 135207078 - MIR6509 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465254 0 2 0 0 0 0 0 1 0 ENSG00000277141 chr1 117243212 117243508 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277142 chr16 525155 527407 - LINC00235 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277143 chr3 158336430 158336777 - AC074276.2 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000277144 chr15 59115547 59116089 - AC092757.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277146 chrY 26453982 26454092 + AC013734.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277147 chr1 149606334 149679523 + LINC00869 transcribed_unprocessed_pseudogene 57234 GO:0031410, GO:0005802, cytoplasmic vesicle, trans-Golgi network, GO:0099041, GO:0006886, vesicle tethering to Golgi, intracellular protein transport, 93 64 126 77 95 99 44 64 107 ENSG00000277149 chr7 72558744 72828198 - TYW1B protein_coding Wybutosine is a hypermodified guanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during ribosome decoding and therefore supports the maintenance of the reading frame. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. [provided by RefSeq, Apr 2014]. 441250 GO:0102521, GO:0051539, GO:0046872, GO:0010181, GO:0005515, tRNA-4-demethylwyosine synthase activity, 4 iron, 4 sulfur cluster binding, metal ion binding, FMN binding, protein binding, GO:0055114, GO:0031591, oxidation-reduction process, wybutosine biosynthetic process, 11 21 12 18 20 19 9 18 14 ENSG00000277150 chrX 155456914 155458672 - F8A3 protein_coding This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]. 474384 GO:0016604, GO:0005769, GO:0005769, GO:0005634, nuclear body, early endosome, early endosome, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1901799, GO:0099518, GO:0099518, negative regulation of proteasomal protein catabolic process, vesicle cytoskeletal trafficking, vesicle cytoskeletal trafficking, 3 3 16 1 5 4 2 0 4 ENSG00000277151 chr13 32782874 32788178 + AL138820.1 lincRNA 10 4 10 4 5 9 12 5 0 ENSG00000277152 chr15 66860303 66867023 + AC110048.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277156 chr14 19267115 19268164 + AL589743.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277157 chr6 26188765 26189076 - HIST1H4D protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8360 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 3 9 8 0 7 2 10 5 8 ENSG00000277159 chr13 112602828 112606417 - AL139384.2 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000277161 chr17 36535020 36539310 + PIGW protein_coding The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]. 284098 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0032216, GO:0008374, glucosaminyl-phosphatidylinositol O-acyltransferase activity, O-acyltransferase activity, GO:0072659, GO:0072659, GO:0016254, GO:0006506, GO:0006505, protein localization to plasma membrane, protein localization to plasma membrane, preassembly of GPI anchor in ER membrane, GPI anchor biosynthetic process, GPI anchor metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000277162 chr4 190065233 190065914 + U85056.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277168 chr1 37953508 37953780 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277170 chr16 4426902 4427380 + AC012676.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277171 chr2 79547151 79548128 - AC010975.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277172 chr6 60719222 60720196 - GAPDHP41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277173 chr12 47768529 47769648 + AC004241.4 sense_intronic 0 0 0 1 1 0 6 4 0 ENSG00000277174 chr7 56685036 56687366 - AC095038.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277182 chr17 38749360 38751457 + AC006449.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277184 chr7 44985378 44985510 - SNORA9 snoRNA 677798 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000277186 chr12 132593031 132593698 - AC131212.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000277188 chr5 76712195 76712327 + RF02154 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277191 chr16 28341437 28341543 + AC138904.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277194 chr11 62852910 62853035 - SNORD22 snoRNA 9304 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000277198 chr17 47041825 47042105 + RN7SL270P misc_RNA 0 0 0 0 0 0 0 0 1 ENSG00000277199 chr1 144627192 144642372 - LINC01632 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277200 chr17 2720801 2723947 - AC005696.4 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000277202 chr15 36972821 36972901 - MIR8063 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466875 0 0 0 0 0 0 0 0 0 ENSG00000277203 chrX 154886349 154888061 + F8A1 protein_coding This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]. 8263 GO:0016604, GO:0005769, GO:0005769, GO:0005634, nuclear body, early endosome, early endosome, nucleus, GO:0005515, GO:0003674, protein binding, molecular_function, GO:1901799, GO:0099518, GO:0099518, negative regulation of proteasomal protein catabolic process, vesicle cytoskeletal trafficking, vesicle cytoskeletal trafficking, 132 123 116 54 109 37 91 75 34 ENSG00000277206 chr7 64768156 64769101 + AC073349.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277208 chr9 67713910 67713967 + AL627230.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277209 chr14 20343075 20343407 - RPPH1 ribozyme 0 0 0 0 0 0 0 0 0 ENSG00000277210 chr15 101522597 101524739 - AC090164.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277211 chr16 20155648 20158391 + AC092132.2 processed_pseudogene 0 0 0 0 0 6 0 0 0 ENSG00000277213 chr9 42408526 42409006 - SDR42E1P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277214 chr16 79603572 79604177 + AC009159.2 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000277215 chrX 141502849 141649927 + SPANXA2-OT1 lincRNA 619455 0 0 0 0 0 0 0 0 0 ENSG00000277217 chr12 129170092 129170238 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277218 chr10 130104569 130104998 - AL139123.1 sense_intronic 0 0 0 1 0 0 1 0 0 ENSG00000277223 chr12 71448405 71448850 + AC090116.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277224 chr6 26199520 26200715 + HIST1H2BF protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. The protein has antibacterial and antifungal antimicrobial activity. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8343 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005615, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, extracellular space, nucleosome, GO:0046982, GO:0042802, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, identical protein binding, protein binding, DNA binding, DNA binding, GO:0061844, GO:0050830, GO:0019731, GO:0016567, GO:0006334, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, antibacterial humoral response, protein ubiquitination, nucleosome assembly, nucleosome assembly, innate immune response in mucosa, 62 115 121 40 91 57 48 87 95 ENSG00000277227 chr13 28778224 28778448 - AL359741.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277228 chr13 46474246 46493268 + AL138686.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277229 chr15 58454327 58454982 + AC084781.1 sense_intronic 4 2 7 0 2 0 1 0 0 ENSG00000277232 chr22 46295143 46296660 - GTSE1-DT lincRNA 150384 3 5 0 4 4 3 3 0 0 ENSG00000277233 chr13 48429269 48429554 + RF00017 misc_RNA 0 0 0 4 1 1 0 2 0 ENSG00000277234 chr1 16873708 16873851 + RNU1-5P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277235 chr20 36064243 36064563 - AL035420.3 lincRNA 0 3 0 0 0 0 0 0 0 ENSG00000277241 chr3 177700346 177701072 - AC026355.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277243 chr15 21406385 21406459 + MIR3118-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422844 0 0 0 0 0 0 0 0 0 ENSG00000277245 chr15 56447120 56447697 + AC084782.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277246 chr13 108267320 108267734 + AL157762.1 sense_intronic 2 3 8 5 5 5 2 13 6 ENSG00000277247 chr12 70570969 70571440 + AC083809.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277248 chr22 10736171 10736283 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277249 chr17 45114367 45114433 - MIR6784 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465470 0 0 0 0 0 0 0 0 4 ENSG00000277250 chr3 128673681 128674021 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277252 chr14 19220796 19220912 - AL589743.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277253 chr7 56805336 56808148 + AC118758.2 processed_pseudogene 0 1 0 3 1 0 0 0 0 ENSG00000277255 chr16 81533902 81533966 + MIR7854 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465840 1 1 0 0 2 0 0 0 2 ENSG00000277258 chr17 38733897 38749817 - PCGF2 protein_coding The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]. 7703 GO:0035102, GO:0035102, GO:0031519, GO:0016604, GO:0005654, GO:0005654, GO:0005634, GO:0001739, GO:0000785, PRC1 complex, PRC1 complex, PcG protein complex, nuclear body, nucleoplasm, nucleoplasm, nucleus, sex chromatin, chromatin, GO:1990841, GO:0046872, GO:0005515, GO:0003677, promoter-specific chromatin binding, metal ion binding, protein binding, DNA binding, GO:2001234, GO:0070317, GO:0070301, GO:0048704, GO:0036353, GO:0036353, GO:0016573, GO:0009952, GO:0006342, GO:0001701, GO:0000122, GO:0000122, negative regulation of apoptotic signaling pathway, negative regulation of G0 to G1 transition, cellular response to hydrogen peroxide, embryonic skeletal system morphogenesis, histone H2A-K119 monoubiquitination, histone H2A-K119 monoubiquitination, histone acetylation, anterior/posterior pattern specification, chromatin silencing, in utero embryonic development, negative regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000277260 chr9 42199000 42204988 + FAM74A7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277264 chr6 32179816 32179876 + MIR6833 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465500 0 0 0 0 0 0 0 0 0 ENSG00000277265 chr7 5871753 5872050 - RN7SL556P misc_RNA 2 0 0 0 0 1 0 2 1 ENSG00000277268 chr17 36861674 36936661 - LHX1-DT antisense 102723471 0 0 0 0 0 0 0 0 0 ENSG00000277269 chr7 130487483 130487622 + RF02148 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277270 chr20 61434625 61437547 - AL160412.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277274 chr10 133677059 133678327 + DUX4L22 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277277 chr21 7768884 7770591 - FAM243B protein_coding 102723451 0 0 0 0 0 0 0 0 0 ENSG00000277282 chr21 10649400 10649835 - IGHV1OR21-1 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000277283 chr12 120116907 120119000 + AC004812.2 antisense 2 2 4 8 4 4 7 2 4 ENSG00000277287 chr20 3239705 3245382 + AL109976.1 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000277288 chr10 44292569 44294649 + C10orf142 protein_coding 100130539 0 0 0 0 1 0 0 0 0 ENSG00000277289 chrX 52531709 52532051 - BX510359.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277290 chr11 243099 243483 - AC136475.10 processed_pseudogene 64 36 53 17 14 5 13 5 7 ENSG00000277295 chr15 75268430 75268652 + RN7SL489P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277297 chr9 66721158 66722760 + ATP5F1AP10 processed_pseudogene 1 1 0 1 4 0 0 3 0 ENSG00000277299 chr12 109948389 109949029 + AC084876.1 antisense 354 312 393 325 470 430 314 348 347 ENSG00000277301 chr20 32509959 32520285 + AL034550.2 antisense 101929698 3 3 3 6 3 1 14 0 2 ENSG00000277304 chr16 32916974 32946392 + AC142086.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277306 chr2 140234737 140234923 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277308 chr10 97297290 97297557 + RF00017 misc_RNA 0 0 0 0 1 0 3 0 0 ENSG00000277310 chr18 50256036 50256461 - AC090246.1 sense_intronic 1 2 1 0 2 0 0 0 2 ENSG00000277311 chr2 44934055 44934271 + RF02247 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277313 chr1 120228046 120228295 - RF00100 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277315 chr20 7867327 7867614 + AL021879.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277319 chr13 31483414 31483699 - AL161616.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277320 chr9 76785782 76786190 + RF01894 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277322 chr15 20531856 20541800 - GOLGA6L6 protein_coding 727832 0 0 0 0 0 0 0 0 0 ENSG00000277324 chr18 54268346 54270028 - AC093462.1 antisense 11 8 9 6 11 6 12 12 12 ENSG00000277327 chr7 6715630 6720982 - SPDYE20P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277332 chr8 142638596 142640648 + AC108002.2 antisense 101928087 0 0 0 0 0 0 0 0 0 ENSG00000277340 chr9 41573156 41573453 - AL591926.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277341 chr17 37907957 37908063 + RNU6-489P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277342 chr12 32109076 32109602 + AC048344.4 sense_intronic 0 0 2 0 3 0 0 0 0 ENSG00000277344 chr1 16534081 16534224 - RNU1-6P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277349 chr16 90174062 90175865 - AC133919.3 unprocessed_pseudogene 29 0 3 18 0 5 62 0 7 ENSG00000277350 chr9 66942703 66952344 + AL353770.4 lincRNA 0 0 1 0 1 0 0 0 0 ENSG00000277351 chr15 65049188 65049802 - AC013553.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277352 chr21 44494874 44495519 + AP001065.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277357 chr9 87825146 87825968 + NPAP1P7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277358 chr13 45124015 45124143 - AL138693.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277363 chr17 38530016 38605930 - SRCIN1 protein_coding 80725 GO:0098793, GO:0045202, GO:0043025, GO:0030425, GO:0030424, GO:0030175, GO:0030027, GO:0015629, GO:0015629, GO:0014069, GO:0014069, GO:0005925, GO:0005737, GO:0005737, presynapse, synapse, neuronal cell body, dendrite, axon, filopodium, lamellipodium, actin cytoskeleton, actin cytoskeleton, postsynaptic density, postsynaptic density, focal adhesion, cytoplasm, cytoplasm, GO:0030234, GO:0019904, GO:0019901, GO:0005515, enzyme regulator activity, protein domain specific binding, protein kinase binding, protein binding, GO:0061099, GO:0061098, GO:0061001, GO:0061001, GO:0050709, GO:0034446, GO:0030334, GO:0006887, negative regulation of protein tyrosine kinase activity, positive regulation of protein tyrosine kinase activity, regulation of dendritic spine morphogenesis, regulation of dendritic spine morphogenesis, negative regulation of protein secretion, substrate adhesion-dependent cell spreading, regulation of cell migration, exocytosis, 0 0 0 0 0 0 0 0 0 ENSG00000277367 chr14 18889084 18890424 - AL929601.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277368 chr13 26222191 26222654 + AL138966.2 antisense 6 2 11 5 8 5 0 1 12 ENSG00000277369 chr16 11797468 11798275 + AC010654.1 lincRNA 8 6 3 6 0 0 4 0 4 ENSG00000277370 chr17 16440036 16440106 + SNORD49A snoRNA 26800 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000277371 chr10 125869295 125869576 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277373 chr20 17565501 17565851 - AL132765.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277379 chr21 8388362 8388453 + MIR6724-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504739 0 0 0 0 0 0 0 0 0 ENSG00000277382 chr17 76709760 76710045 + AC005837.3 antisense 1 0 7 0 0 12 2 0 3 ENSG00000277383 chr19 47607873 47608454 - AC010331.1 antisense 4 7 0 2 1 4 3 1 11 ENSG00000277385 chr22 38281028 38281289 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277386 chr13 33336216 33336716 - AL138999.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277387 chr16 82688931 82689019 + MIR8058 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465863 0 0 0 0 0 0 0 0 0 ENSG00000277388 chr4 47652669 47652743 + MIR8053 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102467004 0 1 0 0 0 0 0 0 0 ENSG00000277391 chr15 74411357 74411432 - MIR6881 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465530 0 0 1 0 0 0 0 0 0 ENSG00000277396 chr2 47383160 47383421 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277397 chr1 53180921 53186900 + AL606760.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277399 chr17 38325530 38343847 - GPR179 protein_coding This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]. 440435 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004930, G protein-coupled receptor activity, GO:0007601, GO:0007186, visual perception, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000277402 chr6 31355224 31355316 - MIR6891 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465537 0 0 0 0 0 0 0 1 0 ENSG00000277406 chr1 146321214 146401647 - SEC22B4P transcribed_unprocessed_pseudogene 17 7 29 27 22 35 25 9 33 ENSG00000277408 chr6 122531123 122531436 - Z99129.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277410 chr6 25885419 25885751 + AL138726.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277411 chr6 15522195 15522300 - RF00001 rRNA 1 0 0 0 0 0 0 0 0 ENSG00000277412 chr9 61194211 61203446 - BX005040.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277413 chr15 60677109 60677272 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277418 chr8 48316669 48316770 + RNA5SP531 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000277422 chr8 85826865 85828467 - REXO1L6P transcribed_processed_pseudogene 100288527 0 0 0 0 0 0 0 0 0 ENSG00000277423 chr12 120703867 120704282 + AC069234.5 lincRNA 0 2 0 3 0 3 1 1 0 ENSG00000277425 chr20 5066082 5068154 - AL121890.4 lincRNA 5 6 0 2 6 8 1 3 0 ENSG00000277426 chr17 39023394 39026742 + AC006441.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 5 ENSG00000277435 chr15 22690454 22691158 - AC138649.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277436 chr8 85814767 85818783 - REXO1L5P processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277437 chr21 8208844 8208904 + MIR3687-1 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000277438 chrY 20570222 20570519 - KDM5DP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277440 chr16 4430522 4431103 + AC012676.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277443 chr6 113857362 113863471 + MARCKS protein_coding The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq, Jul 2008]. 4082 GO:0070062, GO:0042585, GO:0032432, GO:0015629, GO:0005938, GO:0005925, GO:0005886, GO:0005886, GO:0005813, GO:0005737, extracellular exosome, germinal vesicle, actin filament bundle, actin cytoskeleton, cell cortex, focal adhesion, plasma membrane, plasma membrane, centrosome, cytoplasm, GO:0051015, GO:0042802, GO:0005516, GO:0005080, actin filament binding, identical protein binding, calmodulin binding, protein kinase C binding, GO:0051764, GO:0051017, GO:0007417, GO:0007015, actin crosslink formation, actin filament bundle assembly, central nervous system development, actin filament organization, 6413 6163 13735 727 1756 1174 1271 1879 1329 ENSG00000277444 chr2 144521039 144521116 + RF01987 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277446 chr2 10691538 10691831 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277447 chr18 3025069 3025387 - AP005431.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277448 chr13 58165827 58209483 + LINC02338 lincRNA 101926897 0 0 0 0 0 0 0 0 0 ENSG00000277449 chr20 50184598 50191498 - CEBPB-AS1 antisense 2738 2224 2084 1716 3149 2382 1866 3238 2802 ENSG00000277450 chr17 28373256 28373562 + AC002094.4 sense_intronic 2 0 0 1 3 6 0 0 0 ENSG00000277452 chr1 150566562 150566860 - RN7SL473P misc_RNA 36 44 41 21 82 64 49 54 51 ENSG00000277453 chr19 40426115 40426702 + AC010271.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277455 chr5 24449351 24449615 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277458 chr16 11926199 11926307 + AC007216.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277459 chr11 102109827 102110457 - AP001527.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277460 chr22 27919384 27919545 + RF02198 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277462 chr1 247036784 247078755 - ZNF670 protein_coding 93474 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 4 2 11 6 7 0 1 0 1 ENSG00000277463 chr17 62626031 62626453 + AC080038.2 lincRNA 2 4 4 13 6 14 12 3 19 ENSG00000277464 chr15 32602121 32602411 + RN7SL286P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277465 chr9 99368447 99368566 + AL137067.1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277466 chr8 17596312 17596378 - AP006248.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277467 chr15 30612724 30612960 + RN7SL628P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277468 chr14 95670441 95670577 + RF02193 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277469 chr7 27202302 27202638 + RF02042 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277473 chr6 11644067 11644343 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277474 chrX 53198889 53198945 - MIR6894 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466759 0 0 0 0 0 0 0 0 0 ENSG00000277476 chr17 68133201 68135935 + AC005332.5 lincRNA 109 117 137 242 218 243 246 103 145 ENSG00000277478 chr17 49510817 49510900 + MIR6165 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465141 0 0 0 0 0 0 0 0 0 ENSG00000277479 chr10 42578500 42578727 + AL022345.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277481 chr16 71929538 71999978 - PKD1L3 protein_coding This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]. 342372 GO:0070062, GO:0043235, GO:0034703, GO:0016020, GO:0009986, GO:0005886, extracellular exosome, receptor complex, cation channel complex, membrane, cell surface, plasma membrane, GO:0033040, GO:0033040, GO:0030246, GO:0008324, GO:0005515, GO:0005262, GO:0005261, sour taste receptor activity, sour taste receptor activity, carbohydrate binding, cation transmembrane transporter activity, protein binding, calcium channel activity, cation channel activity, GO:0071468, GO:0071468, GO:0070588, GO:0050982, GO:0050915, GO:0006812, GO:0001822, GO:0001581, GO:0001581, cellular response to acidic pH, cellular response to acidic pH, calcium ion transmembrane transport, detection of mechanical stimulus, sensory perception of sour taste, cation transport, kidney development, detection of chemical stimulus involved in sensory perception of sour taste, detection of chemical stimulus involved in sensory perception of sour taste, 25 25 33 12 27 22 23 23 12 ENSG00000277482 chr15 78299701 78299924 + AC090607.5 antisense 0 0 0 0 0 0 0 0 1 ENSG00000277483 chr3 48379834 48380132 + RN7SL321P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277486 chrX 135637623 135642756 - SAGE3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277488 chr17 37940704 37940790 - RF00001 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000277490 chr9 66879454 66879940 - BX664608.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000277491 chr17 795306 795794 + AC087392.5 lincRNA 1 2 0 0 0 0 0 0 0 ENSG00000277492 chrX 70846079 70846295 - SNORD3E snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000277493 chr19 23842549 23843230 + AC139769.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277494 chr8 143213193 143217170 + GPIHBP1 protein_coding This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]. 338328 GO:0031362, GO:0031225, GO:0016324, GO:0016323, GO:0009897, GO:0005886, GO:0005886, GO:0005576, anchored component of external side of plasma membrane, anchored component of membrane, apical plasma membrane, basolateral plasma membrane, external side of plasma membrane, plasma membrane, plasma membrane, extracellular region, GO:0140318, GO:0071813, GO:0035478, GO:0035478, GO:0035473, GO:0035473, GO:0008289, GO:0005515, protein transporter activity, lipoprotein particle binding, chylomicron binding, chylomicron binding, lipase binding, lipase binding, lipid binding, protein binding, GO:0090321, GO:0071503, GO:0070328, GO:0070328, GO:0051006, GO:0051006, GO:0051006, GO:0051004, GO:0050821, GO:0050821, GO:0045056, GO:0042632, GO:0034394, GO:0034371, GO:0017038, GO:0006886, GO:0001523, positive regulation of chylomicron remnant clearance, response to heparin, triglyceride homeostasis, triglyceride homeostasis, positive regulation of lipoprotein lipase activity, positive regulation of lipoprotein lipase activity, positive regulation of lipoprotein lipase activity, regulation of lipoprotein lipase activity, protein stabilization, protein stabilization, transcytosis, cholesterol homeostasis, protein localization to cell surface, chylomicron remodeling, protein import, intracellular protein transport, retinoid metabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000277496 chr20 62648961 62650767 - AL357033.4 antisense 26 55 71 15 31 22 19 25 24 ENSG00000277498 chr2 61858137 61860298 + AC107081.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277499 chrX 63087071 63088664 + AL359854.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277500 chr15 31787494 31787734 + AC026951.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277501 chr17 37642947 37684252 + AC243571.2 antisense 4 0 1 0 0 0 0 0 0 ENSG00000277502 chr2 206160843 206161024 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277504 chr16 87683945 87684477 - AC010536.3 antisense 2 1 0 0 0 0 0 0 0 ENSG00000277505 chr15 23140563 23144422 - AC116165.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277506 chr5 101581830 101582128 + RN7SL802P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277508 chr20 26071988 26072351 - BSNDP3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277509 chr3 44528955 44529391 - AC099669.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277510 chr19 40450225 40450480 + RF00017 misc_RNA 0 0 0 2 0 0 0 0 0 ENSG00000277511 chr17 32127595 32128454 + AC116407.2 lincRNA 1 3 11 8 4 9 4 8 1 ENSG00000277512 chr17 16441226 16441298 + SNORD65 snoRNA 692106 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000277513 chr1 43104086 43104497 + AL161637.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277514 chr11 5903767 5904448 + OR52Q1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277515 chr15 22609141 22609377 - RN7SL495P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277516 chrX 55520382 55520714 - AL590410.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277519 chrY 21817579 21818218 - OFD1P16Y unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277521 chr18 112256 112339 - MIR8078 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466878 0 0 0 1 0 0 1 1 1 ENSG00000277524 chr5 136133912 136134035 + RF02175 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277526 chr8 2589985 2623382 - AC245123.1 lincRNA 101927815 0 0 0 0 0 0 0 0 0 ENSG00000277527 chr2 102873339 102895722 - LINC01796 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277529 chr14 18709478 18712643 - NF1P10 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277531 chr19 46424697 46428951 - PNMA8C protein_coding 0 0 3 0 0 0 0 0 0 ENSG00000277532 chr17 60124110 60125474 - AC025048.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277533 chr19 42351131 42351205 + MIR8077 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465875 0 0 0 0 0 0 0 0 0 ENSG00000277534 chr18 26542971 26545791 - AC007996.1 sense_intronic 0 0 0 0 1 5 0 1 0 ENSG00000277535 chrX 119073226 119076373 + AL772284.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000277541 chrX 48056310 48066583 + ZNF630-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277542 chr17 48723692 48723772 + RF02133 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277543 chr16 31428180 31428646 + AC026471.5 antisense 0 0 0 1 0 4 5 1 0 ENSG00000277544 chr7 65290429 65292776 + AC104073.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277545 chr13 112811566 112812158 + AL356752.1 sense_intronic 2 2 0 0 5 3 3 0 4 ENSG00000277548 chr15 55346347 55346752 - AC018926.3 sense_intronic 9 32 21 33 45 30 26 51 25 ENSG00000277549 chr13 60322591 60322766 + AL359920.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277550 chr20 38103524 38104961 - AL031651.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277553 chr7 27206139 27206303 + RF02043 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277556 chr9 104598457 104599413 - OR13C5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 138799 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000277558 chr20 34476205 34476787 + AL109923.1 sense_intronic 1 1 6 5 12 0 2 4 6 ENSG00000277559 chr16 54290965 54292422 + AC018553.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277561 chr15 22606022 22617854 - GOLGA8IP transcribed_unprocessed_pseudogene 283796 GO:0032580, GO:0005801, GO:0000137, Golgi cisterna membrane, cis-Golgi network, Golgi cis cisterna, GO:0051225, GO:0007030, spindle assembly, Golgi organization, 0 0 0 0 0 0 0 0 0 ENSG00000277562 chr19 52241765 52242440 - AC010320.5 processed_pseudogene 0 0 0 0 0 0 2 1 0 ENSG00000277563 chr10 24255246 24255333 + AC063961.1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277565 chr1 63549227 63549284 - RF02108 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277566 chr12 113249466 113250042 + AC089999.2 sense_intronic 0 1 1 0 0 4 0 0 1 ENSG00000277568 chr5 146510116 146510271 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277569 chrX 28495555 28495663 - MIR6134 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465140 0 0 0 0 0 0 0 0 0 ENSG00000277572 chr21 14075950 14076038 - RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277575 chr9 67203635 67208072 - AL162233.1 processed_pseudogene 0 0 0 0 0 1 0 0 0 ENSG00000277576 chr8 133946677 133947335 + AC110741.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277577 chrX 73831145 73831270 - RF01881 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277578 chr15 84642487 84642763 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277579 chr17 37034668 37043252 + AC244093.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277581 chr20 38962472 38962993 + AL023803.3 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277582 chr15 85210053 85210299 - RN7SL428P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277583 chr7 116953214 116953324 + RF02180 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277586 chr8 24950955 24957110 - NEFL protein_coding Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]. 4747 GO:1904115, GO:0099182, GO:0098685, GO:0031594, GO:0030426, GO:0030424, GO:0005883, GO:0005829, GO:0005737, axon cytoplasm, presynaptic intermediate filament cytoskeleton, Schaffer collateral - CA1 synapse, neuromuscular junction, growth cone, axon, neurofilament, cytosol, cytoplasm, GO:0099184, GO:0044877, GO:0043274, GO:0042802, GO:0030674, GO:0019904, GO:0008022, GO:0005515, GO:0005200, structural constituent of postsynaptic intermediate filament cytoskeleton, protein-containing complex binding, phospholipase binding, identical protein binding, protein-macromolecule adaptor activity, protein domain specific binding, protein C-terminus binding, protein binding, structural constituent of cytoskeleton, GO:2000310, GO:1903937, GO:1903935, GO:0099185, GO:0060052, GO:0051412, GO:0051258, GO:0050885, GO:0050772, GO:0048812, GO:0045109, GO:0045105, GO:0043524, GO:0043434, GO:0040011, GO:0033693, GO:0033693, GO:0031133, GO:0021987, GO:0021766, GO:0021510, GO:0019896, GO:0014012, GO:0009636, GO:0008090, GO:0008089, GO:0000226, GO:0000165, regulation of NMDA receptor activity, response to acrylamide, response to sodium arsenite, postsynaptic intermediate filament cytoskeleton organization, neurofilament cytoskeleton organization, response to corticosterone, protein polymerization, neuromuscular process controlling balance, positive regulation of axonogenesis, neuron projection morphogenesis, intermediate filament organization, intermediate filament polymerization or depolymerization, negative regulation of neuron apoptotic process, response to peptide hormone, locomotion, neurofilament bundle assembly, neurofilament bundle assembly, regulation of axon diameter, cerebral cortex development, hippocampus development, spinal cord development, axonal transport of mitochondrion, peripheral nervous system axon regeneration, response to toxic substance, retrograde axonal transport, anterograde axonal transport, microtubule cytoskeleton organization, MAPK cascade, 2 2 3 18 2 10 7 0 1 ENSG00000277587 chr19 9721903 9722410 + AC008759.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277588 chr19 58334688 58334751 + MIR6806 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465484 0 0 0 0 0 0 0 0 0 ENSG00000277589 chr17 36998598 37000034 + AC244093.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277590 chr2 207166400 207166498 + MIR7845 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465835 3 2 2 3 10 4 5 2 5 ENSG00000277591 chr2 95003545 95003843 - RN7SL575P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277592 chr3 59584169 59584445 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277595 chr12 110032245 110032803 + AC007546.1 sense_intronic 24 28 70 40 55 107 36 41 48 ENSG00000277597 chr17 1684726 1685151 + AC130343.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277598 chr9 60546920 60547154 - BX088702.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277599 chr11 65423960 65424118 + RF01957 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277602 chr16 1971655 1971896 - AC005363.2 lincRNA 3 1 0 2 7 0 0 0 0 ENSG00000277604 chr8 80484589 80484683 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277605 chrX 47476822 47477152 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277608 chr9 23955760 23956444 + AL365204.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277610 chr1 120942600 120942763 + RNVU1-4 snRNA 101954264 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 1 1 2 1 2 2 3 4 1 ENSG00000277611 chr20 43540171 43569498 + Z98752.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000277613 chr17 90796 90899 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277617 chr1 32269338 32269597 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277618 chr9 67797221 67797500 + AL627230.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277619 chr5 135034521 135035894 + AC008406.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277621 chr17 12982613 12983002 - AC005277.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277624 chr9 61858710 61858908 + AL391987.6 processed_pseudogene 0 0 0 0 1 0 1 0 0 ENSG00000277628 chr2 109124357 109124609 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277631 chr9 72674 88826 + PGM5P3-AS1 lincRNA 101929127 0 0 0 0 0 0 0 0 0 ENSG00000277632 chr17 36088256 36090169 - CCL3 protein_coding This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010]. 6348 GO:0005829, GO:0005737, GO:0005615, GO:0005615, GO:0005576, GO:0005576, cytosol, cytoplasm, extracellular space, extracellular space, extracellular region, extracellular region, GO:0048020, GO:0042802, GO:0042056, GO:0031730, GO:0031726, GO:0016301, GO:0016004, GO:0008009, GO:0008009, GO:0005515, GO:0004698, GO:0004672, CCR chemokine receptor binding, identical protein binding, chemoattractant activity, CCR5 chemokine receptor binding, CCR1 chemokine receptor binding, kinase activity, phospholipase activator activity, chemokine activity, chemokine activity, protein binding, calcium-dependent protein kinase C activity, protein kinase activity, GO:2000503, GO:1904141, GO:1903980, GO:0090280, GO:0071621, GO:0071407, GO:0071356, GO:0071356, GO:0071347, GO:0071347, GO:0071346, GO:0071346, GO:0070723, GO:0070374, GO:0070374, GO:0070098, GO:0051930, GO:0051928, GO:0051897, GO:0050918, GO:0050850, GO:0050795, GO:0050729, GO:0048247, GO:0048247, GO:0048246, GO:0048245, GO:0045671, GO:0043922, GO:0043615, GO:0043547, GO:0043525, GO:0043491, GO:0043308, GO:0032760, GO:0032731, GO:0031663, GO:0030593, GO:0030593, GO:0030502, GO:0030335, GO:0023052, GO:0019722, GO:0019221, GO:0014808, GO:0010818, GO:0010629, GO:0010628, GO:0009636, GO:0008360, GO:0007267, GO:0007186, GO:0007010, GO:0006954, GO:0006954, GO:0006935, GO:0006887, GO:0006874, GO:0006816, GO:0002548, GO:0002548, GO:0002548, GO:0001775, GO:0001649, GO:0000165, GO:0000165, positive regulation of natural killer cell chemotaxis, positive regulation of microglial cell migration, positive regulation of microglial cell activation, positive regulation of calcium ion import, granulocyte chemotaxis, cellular response to organic cyclic compound, cellular response to tumor necrosis factor, cellular response to tumor necrosis factor, cellular response to interleukin-1, cellular response to interleukin-1, cellular response to interferon-gamma, cellular response to interferon-gamma, response to cholesterol, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, chemokine-mediated signaling pathway, regulation of sensory perception of pain, positive regulation of calcium ion transport, positive regulation of protein kinase B signaling, positive chemotaxis, positive regulation of calcium-mediated signaling, regulation of behavior, positive regulation of inflammatory response, lymphocyte chemotaxis, lymphocyte chemotaxis, macrophage chemotaxis, eosinophil chemotaxis, negative regulation of osteoclast differentiation, negative regulation by host of viral transcription, astrocyte cell migration, positive regulation of GTPase activity, positive regulation of neuron apoptotic process, protein kinase B signaling, eosinophil degranulation, positive regulation of tumor necrosis factor production, positive regulation of interleukin-1 beta production, lipopolysaccharide-mediated signaling pathway, neutrophil chemotaxis, neutrophil chemotaxis, negative regulation of bone mineralization, positive regulation of cell migration, signaling, calcium-mediated signaling, cytokine-mediated signaling pathway, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, T cell chemotaxis, negative regulation of gene expression, positive regulation of gene expression, response to toxic substance, regulation of cell shape, cell-cell signaling, G protein-coupled receptor signaling pathway, cytoskeleton organization, inflammatory response, inflammatory response, chemotaxis, exocytosis, cellular calcium ion homeostasis, calcium ion transport, monocyte chemotaxis, monocyte chemotaxis, monocyte chemotaxis, cell activation, osteoblast differentiation, MAPK cascade, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000277634 chr14 49839401 49839493 - RF00019 misc_RNA 1 0 0 0 0 5 0 1 1 ENSG00000277635 chr3 109295239 109295498 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277636 chr19 54645309 54645383 + MIR8061 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466251 0 0 0 0 0 0 0 0 0 ENSG00000277637 chr15 30143733 30143969 + RN7SL469P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277639 chr16 53035690 53052873 - AC007906.2 protein_coding 105371267 0 0 0 0 0 0 0 0 0 ENSG00000277640 chr13 87765752 87765881 - AL445647.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277646 chr9 29317833 29318952 + AL353684.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277647 chr16 18357026 18357136 + AC126755.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277651 chr14 65986967 65987447 - AL391261.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277653 chr9 22117665 22117814 + RF01909 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277654 chr15 94841059 95169864 + AC087633.2 transcribed_processed_pseudogene 1 4 1 0 0 0 2 4 0 ENSG00000277655 chr1 146459449 146461859 + AC245407.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277661 chr6 29036021 29076524 + AL662791.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277662 chr13 41229180 41229676 - AL354696.1 sense_intronic 2 2 2 1 8 5 7 7 5 ENSG00000277668 chr2 130603461 130603724 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277669 chr16 29663279 29695144 + AC009086.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000277670 chr1 80124004 80124361 + AC098657.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277671 chr21 8250060 8250149 + RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277672 chr12 49075039 49075802 + AC011603.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277673 chrX 106566021 106566161 + AL590808.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277675 chr7 75225433 75234310 + AC211486.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277677 chr15 51858070 51858352 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 6 ENSG00000277678 chr1 145169519 145169664 + RF00003 snRNA 1 5 10 2 8 22 10 5 15 ENSG00000277681 chr1 201863373 201863447 + MIR6739 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466724 0 0 0 0 0 0 0 0 0 ENSG00000277684 chr13 48340797 48341330 - AL392048.1 antisense 0 0 0 3 0 0 0 0 0 ENSG00000277687 chr10 118692361 118693535 - AL139407.1 sense_intronic 206 211 203 94 197 214 206 134 159 ENSG00000277688 chr17 37609739 37613841 + AC243585.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000277689 chr1 63549374 63549463 - RF02106 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277690 chr22 18527157 18527626 + AC023490.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277692 chr20 32355053 32355734 + AL121583.1 lincRNA 1 1 0 0 3 0 2 2 0 ENSG00000277693 chr21 10328411 10342737 - AP003900.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277694 chr7 27099967 27100111 + RF01979 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277695 chr4 89747802 89755853 + AC097478.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277697 chr9 42978851 42979918 + AL591441.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277698 chr16 16329305 16329364 + MIR6770-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465908 0 0 0 0 0 0 0 0 0 ENSG00000277701 chr2 97281904 97291780 + AC159540.2 lincRNA 2 2 0 2 0 3 1 0 3 ENSG00000277702 chr1 143419625 143420207 - AC239859.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277704 chr1 242890247 242890803 + AL445675.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277705 chr12 11507162 11507408 - AC007450.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277708 chr20 44841925 44842539 - PGBD4P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277710 chr14 19130636 19155089 + NBEAP5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277711 chr9 19967239 19967994 - AL591222.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277713 chr9 130626297 130626363 + MIR6856 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465515 0 0 0 0 0 0 0 0 0 ENSG00000277715 chr12 106250759 106252786 + AC079174.2 antisense 42 27 70 14 23 38 12 8 16 ENSG00000277717 chrX 86481028 86481130 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277718 chr15 74379083 74390535 + LINC02255 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277720 chr6 26219045 26219240 + AL031777.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277721 chrX 46553522 46553775 - RF00017 misc_RNA 3 0 0 0 0 0 0 2 0 ENSG00000277723 chr3 134367804 134367862 - MIR6827 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466744 0 0 0 0 0 0 0 0 0 ENSG00000277726 chr1 11012662 11030528 + AL109811.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000277728 chr17 73202968 73203431 - AC097641.2 antisense 20 21 22 25 19 14 19 14 5 ENSG00000277732 chr8 134598318 134598518 + RF02212 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277734 chr14 22547506 22552154 + TRAC TR_C_gene 145 103 296 602 236 832 576 211 570 ENSG00000277737 chr9 43109866 43125905 - FP325317.1 unprocessed_pseudogene 0 0 0 5 0 0 0 0 0 ENSG00000277738 chr12 91634887 91635644 + AC126175.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277739 chr21 8256781 8256933 + RNA5-8SN2 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000277740 chr8 69851148 69851436 - RF00017 misc_RNA 0 0 0 0 0 0 2 0 0 ENSG00000277741 chr15 82519590 82526412 + GOLGA6L17P transcribed_unprocessed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000277743 chr18 14346214 14346923 - AP005212.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277744 chr19 41373971 41374419 + AC011462.4 sense_intronic 13 0 8 0 2 5 4 3 5 ENSG00000277745 chrX 155459415 155460005 - H2AFB3 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. [provided by RefSeq, Oct 2015]. 83740 GO:0035327, GO:0005634, GO:0000786, GO:0000785, transcriptionally active chromatin, nucleus, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0006397, GO:0006342, GO:0006334, mRNA processing, chromatin silencing, nucleosome assembly, 0 0 0 0 1 0 0 0 0 ENSG00000277746 chr3 86816740 86817036 + AC108706.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277747 chr2 95460144 95460336 - AC133104.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277748 chr19 46249394 46250163 - AC006262.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277749 chr15 74311516 74319688 - AC023300.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000277752 chr13 50075570 50075653 + RF02109 misc_RNA 25 16 28 19 37 32 29 38 33 ENSG00000277754 chr14 101145480 101145695 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000277755 chr15 22756172 22756729 - AC138649.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277757 chr10 45016080 45147221 - AL358394.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000277758 chr10 47750864 47763592 - FO681492.1 protein_coding 102724488 0 0 1 0 0 0 0 0 0 ENSG00000277759 chr19 39829716 39829802 - MIR6719 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465974 0 1 1 0 2 2 1 2 1 ENSG00000277762 chr1 147689256 147689537 + RN7SL261P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277763 chr14 56117316 56117990 - AL138995.1 lincRNA 21 68 58 32 59 110 33 61 42 ENSG00000277764 chr2 70900155 70900351 + RF02272 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277766 chr19 16037009 16038455 - AC004790.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277767 chr13 110916004 110917827 + AL442128.2 lincRNA 0 0 1 15 7 10 14 8 0 ENSG00000277769 chr6 45098021 45099260 + RBM22P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277770 chr16 15358978 15362674 + AC137803.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277771 chr22 49846456 49846720 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277774 chr9 39886861 39887144 - RN7SL763P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277775 chr6 26250195 26250605 - HIST1H3F protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8968 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nuclear chromosome, GO:0046982, GO:0045296, GO:0005515, GO:0003677, protein heterodimerization activity, cadherin binding, protein binding, DNA binding, GO:0060968, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0032200, GO:0007596, GO:0006335, GO:0006334, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, telomere organization, blood coagulation, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 1 0 0 0 0 0 0 0 0 ENSG00000277777 chr21 5597390 5597490 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277778 chr9 41006999 41074617 - PGM5P2 transcribed_unprocessed_pseudogene 595135 15 16 31 21 17 57 17 20 26 ENSG00000277782 chr15 80999593 80999981 - AC068870.2 lincRNA 4 1 4 1 0 2 2 3 4 ENSG00000277784 chr17 81693757 81693869 + MIR6786 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465471 0 0 0 0 0 0 0 0 0 ENSG00000277785 chr15 25088804 25088895 + SNORD116-21 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000277790 chr15 58456188 58456348 + AC084781.2 sense_intronic 1 2 0 0 0 0 0 0 0 ENSG00000277791 chr17 38752736 38764231 + PSMB3 protein_coding The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013]. 5691 GO:0070062, GO:0019774, GO:0005839, GO:0005839, GO:0005829, GO:0005737, GO:0005654, GO:0005634, GO:0005634, GO:0000502, extracellular exosome, proteasome core complex, beta-subunit complex, proteasome core complex, proteasome core complex, cytosol, cytoplasm, nucleoplasm, nucleus, nucleus, proteasome complex, GO:0005515, GO:0004298, GO:0004175, protein binding, threonine-type endopeptidase activity, endopeptidase activity, GO:1902036, GO:1901990, GO:0090263, GO:0090090, GO:0070498, GO:0061418, GO:0060071, GO:0055085, GO:0050852, GO:0043687, GO:0043488, GO:0043161, GO:0043161, GO:0038095, GO:0038061, GO:0033209, GO:0031146, GO:0031145, GO:0016579, GO:0016032, GO:0010972, GO:0010499, GO:0006521, GO:0002479, GO:0002223, GO:0000209, GO:0000165, regulation of hematopoietic stem cell differentiation, regulation of mitotic cell cycle phase transition, positive regulation of canonical Wnt signaling pathway, negative regulation of canonical Wnt signaling pathway, interleukin-1-mediated signaling pathway, regulation of transcription from RNA polymerase II promoter in response to hypoxia, Wnt signaling pathway, planar cell polarity pathway, transmembrane transport, T cell receptor signaling pathway, post-translational protein modification, regulation of mRNA stability, proteasome-mediated ubiquitin-dependent protein catabolic process, proteasome-mediated ubiquitin-dependent protein catabolic process, Fc-epsilon receptor signaling pathway, NIK/NF-kappaB signaling, tumor necrosis factor-mediated signaling pathway, SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, anaphase-promoting complex-dependent catabolic process, protein deubiquitination, viral process, negative regulation of G2/M transition of mitotic cell cycle, proteasomal ubiquitin-independent protein catabolic process, regulation of cellular amino acid metabolic process, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, stimulatory C-type lectin receptor signaling pathway, protein polyubiquitination, MAPK cascade, 0 0 0 0 0 0 0 0 0 ENSG00000277794 chr13 40730981 40731253 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277795 chr5 141259235 141261364 + AC244517.3 processed_pseudogene 0 2 0 0 0 0 0 0 0 ENSG00000277797 chr6 81551686 81554092 + AL359693.1 lincRNA 0 1 0 0 0 0 0 1 0 ENSG00000277801 chr14 89156743 89157574 + AL138478.1 lincRNA 314 367 363 124 194 177 162 159 117 ENSG00000277803 chr11 23886135 23893557 + AC099842.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277806 chr19 43976815 43977448 + AC006213.4 sense_intronic 0 1 0 0 0 0 0 1 0 ENSG00000277809 chr2 44935585 44935908 + RF02249 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277817 chr1 155951273 155951336 - MIR6738 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465442 1 0 0 0 1 4 0 0 5 ENSG00000277818 chr5 79562745 79562846 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277825 chr19 16352462 16353182 - AC020917.3 lincRNA 2 0 1 0 2 1 4 1 1 ENSG00000277826 chr14 93637179 93637338 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277828 chr9 99357827 99357957 + AL137067.2 misc_RNA 0 1 0 0 0 0 0 0 0 ENSG00000277829 chr20 38233251 38233799 - AL031651.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277830 chr20 49278427 49278624 + RF02215 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277831 chr13 44369365 44369877 - AL138960.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000277837 chr18 57427133 57432112 + AC090340.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277840 chr12 117002463 117003152 + AC026368.1 sense_intronic 0 3 0 0 5 0 3 6 8 ENSG00000277841 chr15 21513959 21514040 + MIR5701-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847005 0 0 0 0 0 0 0 0 0 ENSG00000277842 chr2 237510931 237510988 + MIR6811 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465486 0 0 0 0 0 0 0 0 0 ENSG00000277846 chr11 62853663 62853732 - SNORD30 snoRNA 9299 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 1 0 0 0 ENSG00000277851 chr12 92247756 92363832 - LINC02391 lincRNA 0 0 0 4 1 0 1 0 0 ENSG00000277852 chr2 89203509 89203906 - AC244255.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277855 chr3 71581721 71628558 + AC097634.3 antisense 7 15 3 4 16 2 9 9 0 ENSG00000277858 chrX 155380787 155381134 + H2AFB2 protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Oct 2015]. 474381 GO:0035327, GO:0005634, GO:0000786, GO:0000785, transcriptionally active chromatin, nucleus, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, GO:0006397, GO:0006342, GO:0006334, mRNA processing, chromatin silencing, nucleosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000277859 chr5 136129516 136129781 + RF02173 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277862 chr1 13095179 13097971 - PRAMEF34P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277863 chr13 106903150 106904099 - AL162574.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277864 chr15 82755945 82756071 + SCARNA15 scaRNA 677778 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000277865 chr15 22458903 22469230 + GOLGA6L22 protein_coding 440243 0 0 0 0 0 0 0 0 0 ENSG00000277866 chr5 150978419 150979175 + AC022106.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277867 chr15 22714939 22715225 + AC138649.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277869 chr9 64498517 64498745 + AL773524.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277870 chr22 18422244 18500594 + FAM230A lincRNA 653203 0 0 0 0 0 0 0 0 0 ENSG00000277872 chr22 25455646 25455711 + MIR6817 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466198 0 0 0 0 0 0 0 0 0 ENSG00000277873 chr12 118024817 118025518 - AC131159.2 antisense 6 7 5 13 8 14 9 10 3 ENSG00000277876 chrX 30821815 30823407 - AC108359.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277878 chr5 28927298 28927459 - AC010385.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277879 chr10 117267116 117268668 - AL391988.1 antisense 20 53 29 34 94 68 35 75 34 ENSG00000277880 chr7 142601628 142602360 + TRBV17 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000277881 chr6 29450210 29450558 + AL645927.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277882 chr1 161411597 161411802 - AL592295.2 processed_pseudogene 0 0 1 1 2 0 0 2 0 ENSG00000277883 chrX 107974078 107985008 + NLRP3P1 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000277887 chr17 64146339 64146471 + SNORA50C snoRNA 677842 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000277888 chr8 144057321 144057380 - MIR6846 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465509 0 0 0 0 0 0 0 0 0 ENSG00000277889 chr9 106600928 106601022 + MIR8081 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465995 0 0 0 0 0 0 0 0 0 ENSG00000277892 chr11 61878216 61878278 - MIR6746 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465446 0 0 0 0 0 0 2 0 0 ENSG00000277893 chr2 31522480 31581067 - SRD5A2 protein_coding This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]. 6716 GO:0016021, GO:0005789, integral component of membrane, endoplasmic reticulum membrane, GO:0047751, GO:0030283, GO:0016491, GO:0009917, GO:0005515, GO:0003865, cholestenone 5-alpha-reductase activity, testosterone dehydrogenase [NAD(P)] activity, oxidoreductase activity, sterol 5-alpha reductase activity, protein binding, 3-oxo-5-alpha-steroid 4-dehydrogenase activity, GO:0061370, GO:0055114, GO:0030539, GO:0030154, GO:0008584, GO:0008209, GO:0007267, GO:0006702, GO:0006694, testosterone biosynthetic process, oxidation-reduction process, male genitalia development, cell differentiation, male gonad development, androgen metabolic process, cell-cell signaling, androgen biosynthetic process, steroid biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000277895 chr12 64451591 64452901 - AC135279.3 antisense 32 25 40 11 10 31 33 22 32 ENSG00000277899 chr18 44522366 44523074 + MLECP1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277900 chrX 97081674 97081956 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277901 chr20 23320958 23325352 - AL390037.1 lincRNA 0 1 0 5 0 0 4 0 0 ENSG00000277903 chr17 43271369 43271559 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277904 chr19 2630715 2630793 + MIR7850 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465838 0 0 0 8 9 4 5 4 2 ENSG00000277907 chr18 48478282 48478491 - AC024288.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277911 chr17 36980167 36980422 + AC243773.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277912 chr5 181043403 181043484 - MIR8089 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465882 0 0 0 0 0 0 0 0 0 ENSG00000277913 chr13 50044649 50044768 + RF02105 misc_RNA 37 40 32 27 45 35 41 47 38 ENSG00000277914 chr13 86275493 86277262 + DDX6P2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277916 chr1 29171285 29171453 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277918 chr1 144560666 144560829 - RF00003 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277919 chr15 62304658 62304734 - MIR8067 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465869 0 0 0 0 0 0 0 0 0 ENSG00000277920 chr16 16351545 16351653 - AC138969.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277922 chrX 74293357 74293574 + RF02122 misc_RNA 1 0 3 0 0 0 6 1 3 ENSG00000277925 chr3 169764610 169765047 - RF00024 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277930 chrY 4993858 4999650 - AC010722.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277932 chr11 5893208 5902730 + OR52E5 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390082 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000277935 chr12 13540231 13544540 + AC007527.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277938 chr20 25229150 25231933 + AL035252.3 lincRNA 3 0 3 0 0 0 0 0 0 ENSG00000277941 chr22 26671402 26671550 + RF01875 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277942 chr13 113262920 113262999 + MIR8075 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465874 0 0 2 0 4 1 0 1 0 ENSG00000277945 chr12 65830750 65831050 + AC107308.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000277946 chr7 97998325 97998622 + RN7SL478P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277947 chr17 19112419 19112636 - SNORD3D snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000277948 chr2 175092401 175092587 - RF02271 misc_RNA 0 3 1 0 0 11 3 0 1 ENSG00000277950 chr22 20070716 20070965 + RF00017 misc_RNA 0 2 1 2 1 6 1 1 0 ENSG00000277952 chr12 8340182 8340397 + AC092745.3 processed_pseudogene 2 0 0 0 0 0 0 0 6 ENSG00000277954 chr16 79202624 79206739 - AC092376.2 antisense 1 0 0 0 0 0 0 0 0 ENSG00000277957 chr17 7563287 7578715 + SENP3-EIF4A1 protein_coding 0 1 3 2 7 13 19 2 18 ENSG00000277958 chr1 29041199 29041480 + RF00017 misc_RNA 1 1 0 0 4 4 2 2 9 ENSG00000277959 chr10 131971202 131971533 + AL162274.2 antisense 8 6 10 12 8 6 8 5 10 ENSG00000277965 chr20 38711821 38712103 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277966 chr7 27186892 27187124 + RF02140 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277967 chr20 49280485 49280571 + RF02217 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277968 chr5 142317830 142317920 + RF02038 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277969 chr17 38702452 38704747 + AC006449.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277971 chr22 20429241 20446620 - AC007731.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000277972 chr17 38730235 38735044 + CISD3 protein_coding CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008]. 284106 GO:0005739, mitochondrion, GO:0051537, GO:0046872, 2 iron, 2 sulfur cluster binding, metal ion binding, GO:0106034, protein maturation by [2Fe-2S] cluster transfer, 0 0 0 0 0 0 0 0 0 ENSG00000277973 chr6 136206478 136206860 + AL138828.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277975 chr20 23772785 23776169 - CSTP2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277977 chr19 52392659 52392755 + AC010332.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277978 chr16 66565620 66566001 - AC010542.5 antisense 259 186 443 107 174 146 109 197 216 ENSG00000277979 chr9 41652895 41652973 - AL591926.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277981 chr10 77738246 77739015 + AL731556.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277984 chr11 95057282 95057984 + AP001264.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277985 chr17 7577955 7578091 + SNORA67 snoRNA 26781 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000277986 chr2 231711525 231711647 + RF00015 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000277987 chr15 98324273 98327494 - LINC02351 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277988 chr15 20012741 20014208 + FAM30B unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000277991 chr21 7669397 7681742 - FP236241.1 lincRNA 102723360 0 0 0 0 0 0 0 0 0 ENSG00000277994 chr12 53965965 53966061 + RF01906 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000277997 chr2 307683 309424 + AC079779.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000277998 chr2 164573741 164574054 + AC107075.1 unprocessed_pseudogene 1 0 0 0 4 0 0 1 0 ENSG00000277999 chr16 29272220 29272772 + AC009093.6 lincRNA 4 1 5 0 6 1 2 1 3 ENSG00000278000 chr18 80161752 80162413 + AC139100.2 sense_intronic 5 7 2 5 16 6 6 7 3 ENSG00000278001 chr9 41700682 41701096 + AL591926.7 processed_pseudogene 0 0 0 0 2 0 0 0 0 ENSG00000278002 chr14 49863072 49864379 + AL627171.1 lincRNA 4 5 2 6 9 7 14 6 20 ENSG00000278004 chr2 217283370 217283523 + RF01983 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278007 chr19 4127492 4127732 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278008 chr22 18715815 18719341 + PPP1R26P4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278009 chr14 49601011 49601124 - AL139099.3 unprocessed_pseudogene 0 0 0 2 0 0 1 0 0 ENSG00000278010 chr9 67797087 67797181 + RF00156 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000278011 chr12 88601862 88602195 + AC024941.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278012 chr20 31970181 31970831 + AL031658.2 sense_intronic 1 0 1 0 0 0 0 1 0 ENSG00000278013 chr15 82540870 82562374 + AC245033.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278017 chr18 62525919 62526325 - AC064801.1 antisense 6 6 8 4 5 23 21 14 29 ENSG00000278020 chr7 27188816 27188994 + RF02142 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278022 chr15 98660210 98660668 + AC118658.1 sense_intronic 6 3 3 31 7 8 22 6 4 ENSG00000278023 chr17 35918066 35930773 - RDM1 protein_coding This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]. 201299 GO:0016605, GO:0015030, GO:0005829, GO:0005730, GO:0005730, PML body, Cajal body, cytosol, nucleolus, nucleolus, GO:0005515, GO:0003723, GO:0003677, protein binding, RNA binding, DNA binding, 0 0 0 0 0 0 0 0 0 ENSG00000278026 chr3 181715185 181715293 + RF01954 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278028 chr9 41672295 41672406 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278030 chr7 142529290 142529762 + TRBV7-9 TR_V_gene 0 0 0 1 0 0 0 0 0 ENSG00000278034 chr1 24919345 24919416 - MIR6731 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465437 1 1 2 0 0 6 0 0 0 ENSG00000278035 chr20 36233851 36234297 + AL121895.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278038 chr14 49966399 49966511 + MIR6076 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464828 0 0 0 0 0 0 0 0 0 ENSG00000278039 chrX 73850487 73850571 + RF01880 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278040 chr9 75016681 75016848 - RF02271 misc_RNA 0 0 0 0 1 0 0 0 0 ENSG00000278041 chr20 21499261 21502934 - AL133325.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278044 chr22 18501794 18512187 - AC023490.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278045 chr11 32436797 32437030 + RF02205 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278048 chr17 43251829 43252019 - RF00004 snRNA 0 0 0 2 0 0 0 0 0 ENSG00000278050 chr11 65423638 65423742 + RF01956 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278052 chr18 34225930 34226429 + AC104985.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278053 chr17 37609739 37643464 - DDX52 protein_coding 11056 GO:0016020, GO:0005730, GO:0005654, membrane, nucleolus, nucleoplasm, GO:0005524, GO:0003724, GO:0003723, ATP binding, RNA helicase activity, RNA binding, GO:0030490, GO:0006364, maturation of SSU-rRNA, rRNA processing, 16 13 20 6 9 13 13 6 6 ENSG00000278054 chr9 41647825 41648035 - AL591926.8 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000278055 chr7 130488304 130488538 + RF02149 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278057 chrX 154271265 154295853 - TEX28 protein_coding 1527 GO:0016021, GO:0012505, integral component of membrane, endomembrane system, GO:0005515, GO:0003674, protein binding, molecular_function, GO:0008150, biological_process, 0 1 0 0 0 0 0 0 0 ENSG00000278058 chr16 79605802 79606605 + AC009159.3 lincRNA 0 0 0 2 0 0 2 2 2 ENSG00000278060 chr2 72932974 72934355 - AC012366.1 antisense 4 0 0 5 4 0 2 0 0 ENSG00000278068 chr9 66029264 66030169 + AL136317.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278069 chr10 2076019 2076089 - MIR6072 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465944 0 0 0 0 0 0 0 0 0 ENSG00000278071 chr14 103208100 103208876 + AL161669.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278072 chr3 116716460 116716624 + RF01879 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278073 chr1 1296110 1296170 - MIR6726 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465434 0 0 0 0 0 0 0 0 0 ENSG00000278075 chr18 79900555 79900903 - AC114341.1 lincRNA 4 2 2 0 1 0 4 2 0 ENSG00000278077 chr9 41644771 41644981 + AL591926.9 processed_pseudogene 0 1 1 0 1 0 0 1 0 ENSG00000278078 chr16 29380242 29380345 + AC025279.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278080 chr7 75337162 75343013 + SPDYE15P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278083 chr2 222945930 222946388 - AC013476.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278084 chr12 121874193 121874337 + AC069503.3 lincRNA 1 0 2 0 1 0 2 1 0 ENSG00000278085 chrX 135846499 135854538 - CT45A8 protein_coding 102723737 GO:0032039, integrator complex, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000278089 chr15 25182385 25182466 + SNORD115-7 snoRNA 100033444 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000278090 chr15 99028538 99031053 + LUNAR1 lincRNA 58 53 65 21 17 12 30 8 6 ENSG00000278095 chr12 26273329 26273900 - AC022509.4 antisense 0 0 0 0 0 0 0 0 2 ENSG00000278097 chr17 36225246 36226807 - AC243829.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278098 chr15 51314034 51314109 + MIR7973-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466250 0 0 0 0 0 0 0 0 0 ENSG00000278099 chr1 144551779 144551943 - RF00003 snRNA 6063 GO:0005685, U1 snRNP, GO:0030627, pre-mRNA 5'-splice site binding, GO:0000395, mRNA 5'-splice site recognition, 0 0 0 0 0 0 0 0 0 ENSG00000278100 chr10 14391875 14392196 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278102 chr6 18304854 18305045 - AL138825.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278103 chr3 96359964 96360039 + MIR8060 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465864 0 0 0 0 0 0 0 0 0 ENSG00000278104 chr6 30035916 30035983 + RF02218 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278106 chr21 10397644 10397778 + AF254983.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278107 chr18 76805151 76805736 - AC027575.2 lincRNA 0 0 3 0 0 0 0 0 4 ENSG00000278108 chr12 53056944 53057012 + MIR6757 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466193 0 0 0 0 0 0 0 0 0 ENSG00000278109 chr17 43607436 43607723 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278110 chr22 18623339 18625289 - SUSD2P2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278112 chr12 123519390 123519856 - AC145423.3 sense_intronic 4 6 9 3 6 13 3 6 8 ENSG00000278113 chr13 72567213 72567380 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278122 chr9 40481558 40497592 - AQP7P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278123 chr15 25104642 25104732 + SNORD116-28 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000278124 chr1 22010650 22010946 + RN7SL186P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278126 chr12 51201684 51202581 - AC139768.1 sense_intronic 3 1 5 6 0 0 1 3 13 ENSG00000278128 chr6 23854444 23855457 + AL139093.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278129 chr19 58278951 58302805 + ZNF8 protein_coding 7554 GO:0005634, nucleus, GO:0008270, GO:0005515, GO:0003677, GO:0000981, GO:0000978, zinc ion binding, protein binding, DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0030509, GO:0006357, GO:0000122, BMP signaling pathway, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 77 85 89 73 156 117 96 126 145 ENSG00000278130 chr9 138177426 138179774 - AL591424.3 unprocessed_pseudogene 0 0 0 0 1 0 2 0 0 ENSG00000278131 chr2 91589494 91621421 + AC116050.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278133 chr16 31122235 31124064 + AC135050.6 sense_intronic 232 258 336 179 287 421 201 201 299 ENSG00000278134 chr9 67722083 67722683 + AL627230.7 unprocessed_pseudogene 0 0 0 1 2 1 0 0 0 ENSG00000278135 chr4 25250545 25250639 + RF00004 snRNA 0 0 0 0 0 0 2 0 0 ENSG00000278138 chr16 35068211 35085060 + CLUHP11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278139 chr1 46043661 46176488 - AL358075.4 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring genes LOC110117498 and PIK3R3. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017]. 110117499 0 0 0 0 0 0 0 0 0 ENSG00000278143 chr14 18899942 18909673 - NF1P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278144 chr11 65423273 65423392 + RF01955 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278146 chr15 96230897 96231145 + AC012409.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278147 chr14 45079849 45080189 + AL121809.2 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000278151 chr4 88710147 88710265 + RF02114 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278153 chr20 13368291 13368703 - AL121782.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278156 chr13 44575893 44580432 + TSC22D1-AS1 antisense 641467 4 2 7 8 8 12 9 4 2 ENSG00000278158 chr21 44241847 44242081 + AP001059.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278159 chr20 7371608 7371692 + MIR8062 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465865 0 0 0 0 0 0 0 0 0 ENSG00000278160 chrX 52481515 52483950 + BX510359.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278171 chr20 64278306 64278561 + AL137028.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278172 chr13 29864372 29864629 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278175 chr9 39748514 39810097 - GLIDR lincRNA 389741 2 1 7 6 3 10 4 3 1 ENSG00000278177 chr13 93226612 93227317 - AL354811.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278180 chr1 227490691 227492296 + AL451054.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278181 chr21 17296219 17296596 + AP000457.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278182 chr1 145507444 145508607 + AC239860.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278184 chr14 19612191 19619490 + NF1P11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278188 chr22 16141767 16141872 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000278189 chr21 8439823 8439975 + RNA5-8SN2 rRNA 45S ribosomal DNA (rDNA) arrays, or clusters, are present on human chromosomes 13, 14, 15, 21 and 22, designated RNR1 through RNR5, respectively. Each cluster consists of multiple 45S rDNA repeat units, that vary in number among individuals and chromosomes, with total diploid copy number estimates ranging from 60 to >800 repeat units in a human genome. The 45S rDNA repeat unit encodes a 45S rRNA precursor, transcribed by RNA polymerase I, which is processed to form the 18S, 5.8S and 28S rRNAs. Gene and RefSeq, in collaboration with HGNC, currently describe one 45S rDNA cluster, and one set of 45S precursor and product rRNAs, for each of the five human chromosomes to which these loci are localized. This gene is a representative copy of the 5.8S ribosomal RNA on chromosome 21. [provided by RefSeq, Feb 2017]. 106632260 0 0 0 0 0 0 0 0 0 ENSG00000278192 chr20 6065966 6067897 - AL118505.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278193 chr8 72660584 72661470 - AC013562.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278195 chr22 37204238 37212322 - SSTR3 protein_coding This gene encodes a member of the somatostatin receptor protein family. Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 6753 GO:0097730, GO:0060170, GO:0043005, GO:0005929, GO:0005887, GO:0005886, GO:0005737, non-motile cilium, ciliary membrane, neuron projection, cilium, integral component of plasma membrane, plasma membrane, cytoplasm, GO:0042923, GO:0042277, GO:0005515, GO:0005102, GO:0004994, GO:0004930, neuropeptide binding, peptide binding, protein binding, signaling receptor binding, somatostatin receptor activity, G protein-coupled receptor activity, GO:0071392, GO:0071385, GO:0042594, GO:0038170, GO:0030900, GO:0021549, GO:0008628, GO:0008285, GO:0007283, GO:0007267, GO:0007218, GO:0007187, GO:0007186, cellular response to estradiol stimulus, cellular response to glucocorticoid stimulus, response to starvation, somatostatin signaling pathway, forebrain development, cerebellum development, hormone-mediated apoptotic signaling pathway, negative regulation of cell population proliferation, spermatogenesis, cell-cell signaling, neuropeptide signaling pathway, G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, G protein-coupled receptor signaling pathway, 28 31 30 91 147 164 93 124 101 ENSG00000278196 chr22 22822658 22823289 + IGLV2-8 IG_V_gene 2 6 0 2 6 0 3 3 0 ENSG00000278197 chrY 25009700 25010769 - AC006338.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278200 chr17 81480523 81481570 - LINC01971 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278202 chr15 82418651 82434235 + AC243919.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000278204 chrX 53405673 53405765 - MIR6857 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465516 0 0 0 0 0 0 0 0 0 ENSG00000278205 chr7 56462536 56467771 + AC092447.10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278206 chr6 143484979 143507327 + AL031320.2 processed_transcript 3 2 4 7 1 11 6 5 3 ENSG00000278212 chrY 11153858 11159013 - AC134878.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278213 chr9 62559839 62569907 + CNTNAP3P5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278214 chr16 85137150 85149443 + LINC02139 lincRNA 400548 0 0 0 0 0 0 0 0 0 ENSG00000278215 chr11 126376773 126376893 - AP001318.3 processed_pseudogene 1 0 0 0 0 0 2 2 0 ENSG00000278217 chr11 65502914 65503008 + RF01871 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278218 chrX 11148584 11148769 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278221 chr16 16324588 16324654 + MIR6511A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466812 0 0 0 0 0 0 0 0 0 ENSG00000278222 chr15 23363272 23363561 + RN7SL536P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278223 chr17 44934618 44934681 - MIR6783 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466734 0 0 0 0 0 0 0 0 0 ENSG00000278224 chr6 41780762 41787372 + PRICKLE4 protein_coding C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]. 29964 GO:0031941, GO:0030018, GO:0005912, GO:0005634, GO:0001725, filamentous actin, Z disc, adherens junction, nucleus, stress fiber, GO:0051371, GO:0008270, GO:0003779, GO:0003674, muscle alpha-actinin binding, zinc ion binding, actin binding, molecular_function, GO:0061061, GO:0030036, GO:0008150, GO:0007507, muscle structure development, actin cytoskeleton organization, biological_process, heart development, 1 0 0 0 0 0 0 0 0 ENSG00000278226 chr4 56810422 56810681 + RF00017 misc_RNA 0 0 0 0 1 0 0 0 0 ENSG00000278231 chr20 48821688 48849458 - AL133342.1 lincRNA 40 63 73 19 42 24 19 49 16 ENSG00000278233 chr21 8212572 8212724 + RNA5-8SN2 rRNA 45S ribosomal DNA (rDNA) arrays, or clusters, are present on human chromosomes 13, 14, 15, 21 and 22, designated RNR1 through RNR5, respectively. Each cluster consists of multiple 45S rDNA repeat units that vary in number among individuals and chromosomes, with total diploid copy number estimates ranging from 60 to >800 repeat units in a human genome. The 45S rDNA repeat unit encodes a 45S rRNA precursor, transcribed by RNA polymerase I, which is processed to form the 18S, 5.8S and 28S rRNAs. This gene represents a copy of the 5.8S ribosomal RNA on chromosome 21. [provided by RefSeq, Mar 2017]. 109864281 0 0 0 0 0 0 0 0 0 ENSG00000278234 chr3 150241777 150241860 + RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000278236 chr7 87184849 87185020 + RF02271 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000278237 chr5 76712763 76712861 + RF02155 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278238 chr13 52454775 52455331 - AL359513.1 lincRNA 2 1 1 0 0 2 0 0 0 ENSG00000278239 chr19 41833686 41835950 - AC243967.3 lincRNA 6 5 3 16 15 6 21 3 0 ENSG00000278242 chrY 25458926 25459184 + RN7SL725P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278249 chr1 109100193 109100612 + SCARNA2 scaRNA 677766 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000278250 chr12 120018900 120019261 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278254 chr7 9082557 9189857 - AC004852.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278255 chr12 2217462 2217920 - AC005344.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278256 chr8 5363371 5363650 + AC007718.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278259 chr17 36495633 36543435 - MYO19 protein_coding 80179 GO:0031982, GO:0016459, GO:0015629, GO:0005829, GO:0005741, GO:0005739, GO:0005737, vesicle, myosin complex, actin cytoskeleton, cytosol, mitochondrial outer membrane, mitochondrion, cytoplasm, GO:0060002, GO:0051015, GO:0032027, GO:0030898, GO:0016887, GO:0005524, GO:0003779, GO:0000146, plus-end directed microfilament motor activity, actin filament binding, myosin light chain binding, actin-dependent ATPase activity, ATPase activity, ATP binding, actin binding, microfilament motor activity, GO:0090140, GO:0034642, GO:0032465, GO:0030050, GO:0007015, regulation of mitochondrial fission, mitochondrion migration along actin filament, regulation of cytokinesis, vesicle transport along actin filament, actin filament organization, 0 0 0 0 0 0 0 0 0 ENSG00000278261 chr17 76561634 76561705 + SNORD1A snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000278263 chr15 21742364 21742799 - AC135068.2 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000278264 chr19 55245186 55245250 - MIR6803 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466739 0 0 0 0 0 0 0 0 0 ENSG00000278265 chr16 14930820 14930879 + MIR6770-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465461 0 0 0 0 0 0 0 0 0 ENSG00000278266 chr12 127147149 127150081 + AC079949.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278267 chr1 17369 17436 - MIR6859-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466751 6 1 4 0 0 0 0 1 0 ENSG00000278272 chr6 26045411 26045821 + HIST1H3C protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000278273 chr1 144661200 144679513 + FP700107.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278274 chr1 28579764 28579893 - SNORA61 snoRNA 677838 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000278275 chr8 128010188 128010428 - AC103705.1 processed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000278276 chr20 31580890 31581214 + AL110115.2 lincRNA 2 0 0 0 0 0 1 1 5 ENSG00000278278 chr22 20114686 20114751 - MIR6816 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465490 0 0 0 0 0 0 0 0 0 ENSG00000278281 chr1 86357632 86357687 - MIR7856 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465842 1 0 0 0 1 0 5 0 2 ENSG00000278283 chrX 55044749 55045121 - AL020991.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278287 chr1 63549133 63549216 - RF02109 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278289 chrX 135794706 135802656 - CT45A6 protein_coding 541465 GO:0032039, integrator complex, GO:0034472, snRNA 3'-end processing, 0 0 0 0 0 0 0 0 0 ENSG00000278291 chr13 20699307 20703718 - AL161772.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278292 chr22 29432944 29435005 + RFPL4AP6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278299 chr17 38057693 38068592 - TBC1D3C protein_coding This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014]. 414060 GO:0005886, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 0 0 0 0 0 0 0 0 ENSG00000278301 chr14 19371822 19373490 + GRAMD4P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278305 chr13 31419989 31437999 + AL161616.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278311 chr17 36544888 36589848 + GGNBP2 protein_coding 79893 GO:0031410, GO:0005737, GO:0005634, cytoplasmic vesicle, cytoplasm, nucleus, GO:0061099, GO:0060716, GO:0042532, GO:0033140, GO:0030154, GO:0010629, GO:0008285, GO:0007283, negative regulation of protein tyrosine kinase activity, labyrinthine layer blood vessel development, negative regulation of tyrosine phosphorylation of STAT protein, negative regulation of peptidyl-serine phosphorylation of STAT protein, cell differentiation, negative regulation of gene expression, negative regulation of cell population proliferation, spermatogenesis, 12 106 20 19 16 181 115 10 23 ENSG00000278313 chr15 72604399 72605008 - AC100827.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278317 chrX 120709061 120709392 - AC011890.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278318 chr19 44417519 44448578 - ZNF229 protein_coding 7772 GO:0005634, nucleus, GO:0046872, GO:0005515, GO:0001228, GO:0000978, metal ion binding, protein binding, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0045944, GO:0006357, positive regulation of transcription by RNA polymerase II, regulation of transcription by RNA polymerase II, 0 5 0 0 1 2 1 0 0 ENSG00000278319 chrX 55101637 55102026 - AL590240.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278324 chr8 127890626 127890720 + RF02166 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278328 chr19 55239912 55239976 - MIR6802 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465481 0 0 0 0 0 1 0 1 0 ENSG00000278330 chr18 77112602 77115726 + AC018529.2 antisense 124 182 185 572 542 589 716 461 525 ENSG00000278331 chr9 40759600 40759706 - RNU6-156P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000278332 chr6 27510501 27510694 + AL021918.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278333 chr10 85613017 85613186 - RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278334 chr7 27185832 27186018 + RF02138 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278337 chr13 19172773 19172925 + AL139327.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278338 chr13 41955808 41981565 + VWA8-AS1 antisense 100507240 0 0 0 0 0 0 0 0 0 ENSG00000278340 chr16 28724252 28724321 + MIR6862-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465907 0 0 0 0 0 0 0 0 0 ENSG00000278341 chr16 88708956 88710437 - AC138028.6 antisense 3 14 22 4 5 15 4 4 20 ENSG00000278342 chr14 91554410 91554503 + AL133373.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278343 chr6 958324 962272 - AL356130.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278344 chr12 120500735 120501090 - AC063943.1 lincRNA 3 0 0 0 1 0 0 0 5 ENSG00000278346 chr17 40380666 40381838 - AC080112.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278348 chr15 74162340 74162620 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278349 chr11 71473503 71473568 + MIR6754 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466728 0 0 0 0 0 0 0 1 0 ENSG00000278351 chr12 45256473 45256726 + AC009248.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000278356 chr12 2885819 2886329 + AC005911.1 sense_intronic 0 1 0 0 2 1 0 1 0 ENSG00000278358 chrX 52480836 52481131 + BX510359.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278359 chr11 64341849 64341904 - MIR7155 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466815 0 0 0 0 1 0 0 0 0 ENSG00000278367 chr20 35174355 35174919 - AL356652.1 antisense 0 0 1 0 0 5 0 1 1 ENSG00000278370 chr15 90650631 90651103 + AC021422.1 lincRNA 1 0 1 2 0 0 0 0 0 ENSG00000278374 chr8 123454981 123455107 - RF00015 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000278376 chr11 118791254 118793137 + AP004609.3 lincRNA 10 10 8 27 23 29 31 14 46 ENSG00000278381 chr21 13654073 13654356 + AL050303.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278382 chr9 90108244 90108518 + AL161629.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278383 chr20 25680781 25681246 + AL031673.1 antisense 0 0 0 0 1 5 3 0 0 ENSG00000278385 chr12 47905122 47906865 + AC121338.2 lincRNA 1 0 3 8 4 7 0 3 0 ENSG00000278388 chr7 93914987 93915108 + AC002076.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278389 chr16 19111035 19111484 - AC099518.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278390 chr13 41132939 41236686 + AL354696.2 antisense 101929140 37 36 32 27 26 28 30 32 29 ENSG00000278391 chrY 18336960 18337049 + RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278395 chr17 36241701 36241806 + AC243829.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278396 chr14 93334528 93335057 + AL122023.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000278399 chr12 56981211 56985960 - AC026120.1 unprocessed_pseudogene 0 0 0 0 0 4 0 0 0 ENSG00000278400 chr12 56941174 56941482 - AC026120.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278404 chr22 26657521 26657655 + RF01874 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278406 chr2 192775943 192776073 + RF01981 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278408 chr15 71547280 71549832 - AC108861.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278410 chr20 21614978 21615435 + AL121590.1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278412 chr9 98229149 98229217 - MIR6854 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465514 0 0 0 0 0 0 0 0 0 ENSG00000278413 chr13 26359529 26359702 - RF02271 misc_RNA 1 0 0 0 0 0 0 0 0 ENSG00000278416 chr7 75344015 75359550 - PMS2P2 unprocessed_pseudogene 8 13 6 7 2 4 13 2 4 ENSG00000278418 chr2 177313806 177313882 - MIR6512 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465255 0 0 0 0 0 0 0 0 0 ENSG00000278419 chr10 3134566 3145166 + AL451164.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278420 chr22 36286847 36286907 - MIR6819 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465491 GO:0070062, extracellular exosome, 3 2 2 1 8 7 0 1 0 ENSG00000278421 chrX 74274341 74274411 + RF02119 misc_RNA 1 2 2 1 1 6 2 3 0 ENSG00000278422 chr15 84205454 84205700 - RN7SL331P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278424 chr7 110215891 110216380 + AC073114.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278428 chr8 59893856 59893942 - AC022709.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278431 chr1 145961388 145964422 + AC243547.2 antisense 0 1 4 1 7 0 0 0 0 ENSG00000278433 chr21 43609887 43609989 - MIR6070 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464825 0 0 0 0 0 0 0 0 0 ENSG00000278434 chr16 4532216 4533670 - AC023830.3 sense_intronic 1 1 3 81 67 49 51 57 46 ENSG00000278438 chr4 146408583 146408688 + MIR7849 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465837 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000278441 chr5 178842028 178842235 - AC126915.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278445 chr13 102903339 102904000 + AL137246.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278446 chr7 9170948 9171273 - AC004852.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278447 chr17 42823880 42823943 - MIR6781 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465468 0 1 0 2 4 3 2 1 0 ENSG00000278449 chr7 143382686 143382800 + MIR6892 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465538 0 0 0 0 0 0 0 0 0 ENSG00000278454 chr8 134600257 134600336 + RF02213 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278455 chr1 243049782 243051619 + AL606534.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278456 chr15 100888472 100889106 - AC015712.7 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278459 chr12 7856169 7856471 + RF00017 misc_RNA 0 0 0 0 0 0 0 2 0 ENSG00000278462 chr13 46717423 46717688 + AL359880.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000278463 chr6 26033176 26033568 - HIST1H2AB protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8335 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, protein binding, DNA binding, DNA binding, GO:0008285, GO:0006342, negative regulation of cell population proliferation, chromatin silencing, 2 0 0 0 1 0 0 0 4 ENSG00000278464 chr18 34892013 34902885 - AC068506.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278465 chr1 206474803 206474864 + MIR6769B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466202 0 0 0 0 0 0 0 0 0 ENSG00000278467 chr1 223994262 223995196 + AC138393.3 lincRNA 2 4 6 3 4 21 13 7 2 ENSG00000278469 chr12 3124777 3125063 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278472 chr15 33972059 33972515 - AC009268.2 sense_intronic 1 0 0 0 1 0 0 2 0 ENSG00000278473 chr14 106443133 106443583 - IGHV3-41 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278475 chr12 45789189 45789657 + AC009464.1 sense_intronic 2 0 1 1 1 5 0 5 3 ENSG00000278477 chr13 34262863 34263090 + AL356321.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278478 chrY 10070131 10070409 + AC006987.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278480 chr1 15226373 15227549 + AL391094.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278482 chr7 117191647 117191761 + RF02185 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278483 chr11 27514970 27515047 - MIR8087 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465881 0 0 0 0 0 0 0 0 0 ENSG00000278484 chr10 120984966 120985596 - AC010998.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278485 chr9 60944555 60944636 - AL590491.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278486 chr9 94432631 94433273 - YRDCP1 processed_pseudogene 6 1 2 0 1 0 10 0 1 ENSG00000278487 chr5 43143362 43143514 - AC106800.4 processed_pseudogene 0 0 0 8 4 0 2 1 5 ENSG00000278492 chr19 43978376 43978663 + AC006213.5 sense_intronic 0 2 0 0 0 0 0 0 0 ENSG00000278493 chr15 41908204 41908714 - AC039056.2 sense_intronic 3 0 4 5 1 10 0 1 1 ENSG00000278496 chr13 27077218 27077962 + AL158062.1 unprocessed_pseudogene 0 0 0 2 0 0 0 0 0 ENSG00000278497 chr15 20570886 20571175 + RN7SL759P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278498 chr10 103027336 103027498 + RF02271 misc_RNA 0 0 0 0 0 0 0 1 0 ENSG00000278499 chr16 60358455 60359480 - AC018554.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000278500 chr2 176151085 176173097 + AC009336.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000278502 chr4 171186184 171186292 + MIR6082 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466953 0 0 0 0 0 0 0 0 0 ENSG00000278505 chr17 37375986 37392708 + C17orf78 protein_coding 284099 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000278513 chr15 58732188 58733149 + AC091046.2 unprocessed_pseudogene 1 0 0 0 3 2 0 0 0 ENSG00000278514 chr15 91022766 91023200 + AC068831.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278517 chr17 4970086 4970150 - MIR6865 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465522 1 3 0 3 1 0 0 0 0 ENSG00000278518 chr10 133526259 133527513 - AL161645.1 antisense 0 0 1 3 0 0 0 0 0 ENSG00000278520 chr12 42323700 42323859 - MIR7851 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102467003 0 0 0 0 0 0 0 0 0 ENSG00000278522 chr15 21408243 21440451 - POTEB3 protein_coding 102724631 GO:0005515, protein binding, 0 0 0 0 0 0 0 0 0 ENSG00000278523 chr2 61928634 61928704 - RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278524 chr2 218341911 218341980 + MIR6810 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466197 0 1 0 0 0 1 0 0 0 ENSG00000278525 chr20 20738433 20738731 - RN7SL607P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278526 chr7 117190133 117190269 + RF02184 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278527 chr11 62854161 62854285 - RF00099 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000278528 chr16 28773824 28777534 - AC145285.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278529 chr11 11783135 11783222 - MIR8070 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465870 0 0 0 0 0 0 0 0 0 ENSG00000278530 chrX 80228489 80335364 - CHMP1B2P transcribed_unitary_pseudogene 101060146 0 0 1 0 1 0 0 0 0 ENSG00000278531 chr10 45187292 45198323 - AL512324.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278532 chr18 69398726 69399249 - AC026585.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278535 chr17 36591798 36600806 + DHRS11 protein_coding 79154 GO:0005576, GO:0005575, extracellular region, cellular_component, GO:0072582, GO:0072555, GO:0004303, GO:0000253, GO:0000166, 17-beta-hydroxysteroid dehydrogenase (NADP+) activity, 17-beta-ketosteroid reductase activity, estradiol 17-beta-dehydrogenase activity, 3-keto sterol reductase activity, nucleotide binding, GO:0055114, GO:0006703, GO:0006694, oxidation-reduction process, estrogen biosynthetic process, steroid biosynthetic process, 1 0 0 0 0 2 0 0 0 ENSG00000278537 chr2 97376674 97376973 + IGKV2OR2-8 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278540 chr17 37084988 37406818 - ACACA protein_coding Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 31 GO:0015629, GO:0005829, GO:0005829, GO:0005829, GO:0001650, actin cytoskeleton, cytosol, cytosol, cytosol, fibrillar center, GO:0046872, GO:0042802, GO:0005524, GO:0005515, GO:0003989, GO:0003989, GO:0003989, metal ion binding, identical protein binding, ATP binding, protein binding, acetyl-CoA carboxylase activity, acetyl-CoA carboxylase activity, acetyl-CoA carboxylase activity, GO:2001295, GO:0071380, GO:0055088, GO:0051289, GO:0046949, GO:0045540, GO:0031325, GO:0019538, GO:0006853, GO:0006633, GO:0006633, GO:0006084, GO:0001894, malonyl-CoA biosynthetic process, cellular response to prostaglandin E stimulus, lipid homeostasis, protein homotetramerization, fatty-acyl-CoA biosynthetic process, regulation of cholesterol biosynthetic process, positive regulation of cellular metabolic process, protein metabolic process, carnitine shuttle, fatty acid biosynthetic process, fatty acid biosynthetic process, acetyl-CoA metabolic process, tissue homeostasis, 0 1 0 1 2 1 0 0 2 ENSG00000278541 chr15 23193491 23193696 + AC116165.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278543 chr19 52473336 52475239 - AC010332.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278546 chr17 31560132 31560573 + AC003101.2 lincRNA 1 0 1 4 1 3 7 0 0 ENSG00000278549 chr1 145850587 145850645 - MIR6736 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466191 0 0 0 0 0 0 0 0 0 ENSG00000278551 chr9 67869947 67870053 + RNU6-368P snRNA 0 0 0 0 0 0 0 0 0 ENSG00000278552 chr15 23225876 23226391 - AC116165.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278554 chr3 73959642 73959927 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278558 chr22 18527802 18530573 + TMEM191B protein_coding 728229 GO:0016021, integral component of membrane, 18 4 18 25 1 13 5 3 20 ENSG00000278561 chr10 48064308 48119455 - PTPN20CP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278569 chr7 17205652 17205928 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278570 chr15 71792638 71818259 + NR2E3 protein_coding This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 10002 GO:0005667, GO:0005654, GO:0005634, GO:0000785, transcription regulator complex, nucleoplasm, nucleus, chromatin, GO:0043565, GO:0008270, GO:0005515, GO:0004879, GO:0003707, GO:0001228, GO:0000978, GO:0000978, sequence-specific DNA binding, zinc ion binding, protein binding, nuclear receptor activity, steroid hormone receptor activity, DNA-binding transcription activator activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0060041, GO:0048856, GO:0045944, GO:0045944, GO:0045944, GO:0043401, GO:0042462, GO:0030522, GO:0030154, GO:0008285, GO:0007602, GO:0007601, GO:0007165, GO:0006367, GO:0006357, GO:0000122, retina development in camera-type eye, anatomical structure development, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, positive regulation of transcription by RNA polymerase II, steroid hormone mediated signaling pathway, eye photoreceptor cell development, intracellular receptor signaling pathway, cell differentiation, negative regulation of cell population proliferation, phototransduction, visual perception, signal transduction, transcription initiation from RNA polymerase II promoter, regulation of transcription by RNA polymerase II, negative regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000278571 chr6 158609707 158609790 + MIR7161 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465694 2 3 15 1 0 6 6 3 4 ENSG00000278572 chr1 26218581 26220476 - AL355877.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278576 chr14 88589231 88592408 + AL162171.3 sense_intronic 0 1 0 0 1 0 6 1 0 ENSG00000278577 chr7 63993904 63994006 + AC092634.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278580 chr13 85837126 85837532 - AL162373.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278581 chr17 64780759 64780824 + MIR6080 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464831 32 62 73 46 78 48 34 36 55 ENSG00000278582 chr15 34520608 34521791 + AC027139.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278585 chrY 5634480 5634655 - SNX3P1Y processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278586 chr7 102264706 102264979 - AC005088.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278587 chr14 30519161 30519318 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278588 chr6 26272976 26273356 + HIST1H2BI protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. The protein has antibacterial and antifungal antimicrobial activity. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8346 GO:0070062, GO:0005829, GO:0005654, GO:0005654, GO:0005634, GO:0005615, GO:0000786, extracellular exosome, cytosol, nucleoplasm, nucleoplasm, nucleus, extracellular space, nucleosome, GO:0046982, GO:0042802, GO:0005515, GO:0003677, GO:0003677, protein heterodimerization activity, identical protein binding, protein binding, DNA binding, DNA binding, GO:0061844, GO:0050830, GO:0019731, GO:0016567, GO:0006334, GO:0006334, GO:0002227, antimicrobial humoral immune response mediated by antimicrobial peptide, defense response to Gram-positive bacterium, antibacterial humoral response, protein ubiquitination, nucleosome assembly, nucleosome assembly, innate immune response in mucosa, 0 0 0 0 0 0 0 0 0 ENSG00000278589 chr4 108415220 108416639 + ZACNP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278590 chr2 85368282 85368580 + RN7SL113P misc_RNA 2 0 0 3 0 1 0 0 0 ENSG00000278591 chr17 43300041 43300231 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000278592 chr7 27187819 27188021 + RF02141 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278593 chr2 234743542 234745606 - AC104394.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278594 chr14 19131842 19132890 - AL589182.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278595 chr20 4761300 4761696 + AL133396.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278596 chr1 148388282 148388363 + MIR6077 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466225 0 0 0 0 5 0 2 0 0 ENSG00000278598 chr16 87834592 87834660 - MIR6775 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465464 0 0 0 0 0 0 0 1 0 ENSG00000278599 chr17 38127951 38138862 + TBC1D3E protein_coding 102723859 GO:0005886, plasma membrane, GO:0031267, GO:0005096, small GTPase binding, GTPase activator activity, GO:0090630, GO:0006886, activation of GTPase activity, intracellular protein transport, 0 8 6 5 7 2 8 1 6 ENSG00000278600 chr15 79920195 79922455 - AC015871.3 sense_intronic 1770 1759 2244 666 1143 1272 948 1041 1233 ENSG00000278601 chr10 110907483 110908182 + AL158163.2 antisense 90 106 130 39 58 81 64 62 43 ENSG00000278602 chrY 24977176 24978317 - AC006338.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278603 chr15 82472203 82472426 + AC245033.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278604 chr15 74072454 74072676 - RN7SL429P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278607 chr18 75070197 75071091 - AC015819.2 lincRNA 3 11 12 1490 1581 1731 1242 1530 911 ENSG00000278610 chr1 222815064 222994906 + AC093152.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278611 chr19 9538733 9539734 + ZNF426-DT lincRNA 101928238 1 3 2 3 4 0 2 0 6 ENSG00000278615 chr11 62662816 62665217 - C11orf98 protein_coding This gene shares three exons in common with another gene, LBH domain containing 1 (GeneID:79081), but the encoded protein uses a reading frame that is different from that of the LBH domain containing 1 gene. [provided by RefSeq, Nov 2017]. 102288414 0 0 0 2 4 7 0 1 8 ENSG00000278616 chr10 79682997 79685436 + BEND3P3 processed_pseudogene 19 17 16 47 34 32 42 20 7 ENSG00000278617 chr19 51206929 51207009 - MIR8074 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465873 0 0 0 0 0 0 0 0 0 ENSG00000278618 chr21 13724189 13724274 + MIR8069-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504736 0 0 0 0 0 0 0 0 0 ENSG00000278619 chr17 36601572 36608971 + MRM1 protein_coding 79922 GO:0005759, GO:0005739, GO:0005739, mitochondrial matrix, mitochondrion, mitochondrion, GO:0070039, GO:0005515, GO:0003723, rRNA (guanosine-2'-O-)-methyltransferase activity, protein binding, RNA binding, GO:0000451, rRNA 2'-O-methylation, 1 0 0 0 0 0 0 0 0 ENSG00000278621 chr15 39588357 39588882 - AC037198.2 antisense 7 7 14 0 2 2 9 3 4 ENSG00000278626 chr15 20642799 20643448 - AC023310.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278627 chr17 58202352 58203003 - AC005962.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278630 chr13 55062945 55161490 + LINC02335 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278631 chr2 94861362 94862667 + AC097374.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278635 chr12 9415641 9416718 + AC141557.2 unprocessed_pseudogene 0 0 0 1 0 1 0 0 0 ENSG00000278636 chr1 70430896 70431178 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278637 chr6 26021679 26021990 + HIST1H4A protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8359 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 0 0 0 0 7 0 1 0 0 ENSG00000278638 chr17 37045462 37052775 - AC244093.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278640 chr11 105352670 105352956 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278641 chr10 133759859 133761125 + DUX4L15 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278642 chr17 57955965 57956143 + AC015813.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278643 chr19 11033727 11033912 + RF02271 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278646 chrX 120877496 120878924 - AC008162.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000278647 chr9 41280460 41280787 + CDK2AP2P1 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278650 chr10 21452197 21452412 + AL158209.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278654 chr12 11500499 11501022 + AC007450.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278655 chr22 23607041 23608407 + AP000346.4 unprocessed_pseudogene 3 0 1 5 4 2 1 0 2 ENSG00000278657 chr22 22036344 22040065 + AC245452.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278658 chr3 129272146 129272243 + MIR6826 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465496 0 0 0 0 0 0 0 0 4 ENSG00000278661 chr14 22503750 22503814 + TRAJ37 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000278662 chr15 82339998 82349475 - GOLGA6L10 protein_coding 647042 0 0 0 0 0 0 0 0 0 ENSG00000278664 chr10 133743332 133744598 + DUX4L10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278665 chr16 28599241 28601881 - AC020765.3 unprocessed_pseudogene 2 3 0 0 0 0 0 4 0 ENSG00000278667 chr22 22730725 22731090 - AC244250.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278668 chr17 32410159 32410746 + AC005899.7 lincRNA 2 0 1 3 1 0 0 3 1 ENSG00000278672 chr17 50768650 50768730 + MIR8059 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466918 0 0 0 0 0 0 0 0 0 ENSG00000278674 chr18 47022287 47023927 - ELOA3B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000278677 chr6 27892757 27893149 - HIST1H2AM protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8336 GO:0070062, GO:0005634, GO:0005634, GO:0000786, GO:0000785, extracellular exosome, nucleus, nucleus, nucleosome, chromatin, GO:0046982, GO:0019899, GO:0005515, GO:0003677, protein heterodimerization activity, enzyme binding, protein binding, DNA binding, GO:0008150, GO:0006342, biological_process, chromatin silencing, 0 0 0 0 0 0 0 0 0 ENSG00000278678 chr21 10576292 10576587 + CYCSP41 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278681 chr16 35435303 35436341 - AC018558.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278683 chr7 101273322 101273715 + AC006329.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278684 chr1 209001338 209001476 + AC104465.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278685 chr7 151190873 151205496 - IQCA1L protein_coding 392843 GO:0016887, GO:0005524, ATPase activity, ATP binding, 2 2 0 0 2 0 1 0 0 ENSG00000278687 chr12 28978584 28978685 + AC024255.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278690 chr17 36012504 36012891 + AC244100.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278694 chr1 154312462 154313084 + AL354980.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278696 chr15 30800160 30800396 + RN7SL82P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278698 chr13 106773623 106774279 - AL162574.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278700 chr16 4658851 4659151 + RF00017 misc_RNA 3 4 3 5 4 5 1 4 0 ENSG00000278701 chr17 20340743 20341045 + RF00017 misc_RNA 0 0 0 0 1 0 0 0 0 ENSG00000278702 chr1 35399997 35400319 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278703 chr18 57588611 57589091 - AC100847.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000278705 chr6 26026815 26027252 - HIST1H4B protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. 8366 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000786, GO:0000781, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nucleosome, chromosome, telomeric region, nuclear chromosome, GO:0046982, GO:0019904, GO:0005515, GO:0003723, GO:0003677, GO:0003677, protein heterodimerization activity, protein domain specific binding, protein binding, RNA binding, DNA binding, DNA binding, GO:0060964, GO:0045814, GO:0045653, GO:0045652, GO:0044267, GO:0034080, GO:0032200, GO:0016233, GO:0006352, GO:0006336, GO:0006335, GO:0006334, GO:0006334, GO:0006303, GO:0000183, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, negative regulation of megakaryocyte differentiation, regulation of megakaryocyte differentiation, cellular protein metabolic process, CENP-A containing nucleosome assembly, telomere organization, telomere capping, DNA-templated transcription, initiation, DNA replication-independent nucleosome assembly, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, double-strand break repair via nonhomologous end joining, rDNA heterochromatin assembly, 1 1 0 0 3 8 2 7 0 ENSG00000278708 chr7 27201844 27202219 + RF02041 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278709 chr20 57710183 57712780 + NKILA antisense 105416157 0 0 6 0 0 10 8 0 3 ENSG00000278713 chr16 29862760 29863417 + AC120114.2 antisense 151 172 192 63 113 30 59 110 63 ENSG00000278715 chr15 25087662 25087753 + SNORD116-20 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000278716 chr16 85489813 85490831 + AC133540.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278719 chr20 5990943 6005821 - MCM8-AS1 antisense 1 1 0 1 0 0 3 0 4 ENSG00000278720 chr9 66042646 66043342 + AL669942.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278722 chr13 57632759 57633575 - AL445288.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278724 chrX 151275509 151275789 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278725 chr16 28602340 28604519 + AC020765.4 unprocessed_pseudogene 1 5 4 1 3 0 0 6 3 ENSG00000278727 chr13 76887551 76891135 + AC000403.1 lincRNA 3 3 3 2 2 0 1 3 1 ENSG00000278730 chr17 68126666 68129586 + AC005332.6 lincRNA 178 224 230 215 237 282 256 203 234 ENSG00000278732 chr13 31975167 31975448 + RF00017 misc_RNA 0 0 0 0 0 0 2 0 0 ENSG00000278733 chr12 28185625 28186190 - AC022079.2 antisense 0 0 0 0 0 6 0 0 0 ENSG00000278734 chr5 51101172 51101643 - AC091834.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278735 chr9 67718821 67719022 + AL627230.8 unprocessed_pseudogene 0 0 0 3 1 0 0 0 4 ENSG00000278736 chr6 48701491 48701872 - FO393412.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278737 chr15 65083042 65083663 - AC013553.4 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000278739 chr16 17052 17119 - MIR6859-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504738 0 0 0 5 0 0 1 0 0 ENSG00000278740 chr17 68188547 68189165 + AC005332.7 lincRNA 7 0 1 7 1 5 5 2 6 ENSG00000278743 chr12 25385670 25386241 - AC087239.1 lincRNA 21 26 22 163 158 240 98 127 190 ENSG00000278744 chr6 134009033 134009218 + AL449363.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278745 chr6 41252696 41252858 + AL391903.3 processed_pseudogene 21 47 32 28 86 70 74 42 82 ENSG00000278746 chr14 32442341 32442639 + RN7SL660P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278752 chr10 98076361 98076421 - AL355301.1 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278754 chr9 15524576 15524707 - AL513423.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278756 chr9 136746893 136746970 - MIR6722 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465431 0 0 0 0 0 0 0 0 0 ENSG00000278757 chr1 516376 516479 - RF00026 snRNA 7 9 9 2 19 7 12 2 10 ENSG00000278761 chr10 133746641 133747907 + DUX4L11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278763 chr9 67725690 67725902 - FAM27B processed_pseudogene 1 2 0 0 1 0 0 3 7 ENSG00000278764 chr2 46266690 46266971 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278765 chr17 48066704 48067293 - AC004477.3 lincRNA 3 3 3 0 2 0 3 2 0 ENSG00000278766 chr2 97421075 97434847 + AC092683.2 lincRNA 0 0 0 3 0 2 0 0 0 ENSG00000278768 chr11 117288453 117293571 + BACE1-AS processed_transcript 3 8 8 19 21 22 25 10 14 ENSG00000278769 chr15 42724102 42724922 + AC090510.3 antisense 11 13 17 23 24 16 17 10 17 ENSG00000278770 chr17 45526466 45526746 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278771 chr14 49853616 49853914 - RN7SL3 misc_RNA The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL3, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008]. 378707 GO:0005786, signal recognition particle, endoplasmic reticulum targeting, GO:0006617, SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition, 35 12 10 15 16 29 30 23 12 ENSG00000278773 chr6 30061080 30061183 + RF02220 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278774 chr17 43273101 43273292 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000278775 chr21 8433085 8433174 + RF01518 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278778 chr4 3063472 3063701 + RF02134 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278783 chr2 85783600 85783677 - MIR6071 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466516 0 0 1 0 0 0 0 0 0 ENSG00000278784 chr14 24201612 24202811 - AL136295.7 sense_intronic 65 71 72 74 72 98 75 58 48 ENSG00000278785 chr15 84467901 84468147 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278790 chr10 133749950 133751216 + DUX4L12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278791 chr1 632325 632413 - MIR6723 miRNA 0 1 1 0 0 0 1 1 0 ENSG00000278794 chr17 1101007 1101273 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278797 chr19 46533669 46534351 + AC011551.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278799 chr3 48549961 48550021 - MIR6823 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465494 0 0 0 0 0 0 0 0 0 ENSG00000278802 chr12 97560557 97560721 + RF01969 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278803 chrX 153276841 153277803 + AC236972.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278807 chr7 75309144 75315046 + SPDYE14P unprocessed_pseudogene 1 1 0 1 0 0 0 0 0 ENSG00000278811 chr1 147258885 147517875 - LINC00624 antisense 100289211 1 1 5 6 4 1 2 0 4 ENSG00000278813 chr19 39726030 39726775 - AC006133.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278815 chr5 136080497 136080597 - RF00006 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278816 chr20 5061037 5061340 - AL121890.5 lincRNA 0 0 0 0 2 3 2 3 2 ENSG00000278818 chr14 55285227 55285558 + RF00017 misc_RNA 1 1 2 4 13 13 7 5 13 ENSG00000278819 chr7 92540268 92557877 - AC005156.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278822 chr11 32435738 32435846 + RF02203 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278824 chr5 71754378 71756301 - AC143336.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278825 chr9 39191100 39191360 + RN7SL640P misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278828 chr6 27810064 27811300 + HIST1H3H protein_coding Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]. 8357 GO:0070062, GO:0032991, GO:0016020, GO:0005654, GO:0005634, GO:0005634, GO:0005576, GO:0000786, GO:0000228, extracellular exosome, protein-containing complex, membrane, nucleoplasm, nucleus, nucleus, extracellular region, nucleosome, nuclear chromosome, GO:0046982, GO:0045296, GO:0005515, GO:0003677, protein heterodimerization activity, cadherin binding, protein binding, DNA binding, GO:0060968, GO:0060964, GO:0045814, GO:0045652, GO:0044267, GO:0038111, GO:0032200, GO:0007596, GO:0006335, GO:0006334, GO:0006334, GO:0006325, GO:0000183, regulation of gene silencing, regulation of gene silencing by miRNA, negative regulation of gene expression, epigenetic, regulation of megakaryocyte differentiation, cellular protein metabolic process, interleukin-7-mediated signaling pathway, telomere organization, blood coagulation, DNA replication-dependent nucleosome assembly, nucleosome assembly, nucleosome assembly, chromatin organization, rDNA heterochromatin assembly, 5 12 12 4 14 3 4 15 8 ENSG00000278829 chr17 42272069 42275571 - AC099811.5 sense_intronic 21 22 29 48 72 55 79 64 67 ENSG00000278830 chr10 27313723 27316587 + AL355493.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278831 chr10 124623353 124624079 + AL513190.1 antisense 146 200 226 59 152 106 84 102 107 ENSG00000278834 chr17 40648300 40649718 + AC073508.3 antisense 3 4 4 4 1 0 5 5 0 ENSG00000278837 chr11 89954593 89954908 - AP004607.9 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278838 chrX 46073651 46073935 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278840 chr15 26557598 26557937 - AC009878.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000278842 chr12 50286244 50289231 + AC008147.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278845 chr17 38297023 38323218 + MRPL45 protein_coding Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]. 84311 GO:0005762, GO:0005743, GO:0005739, GO:0005739, mitochondrial large ribosomal subunit, mitochondrial inner membrane, mitochondrion, mitochondrion, GO:0005515, GO:0003723, protein binding, RNA binding, GO:0070126, GO:0070125, mitochondrial translational termination, mitochondrial translational elongation, 1 0 0 0 1 0 1 0 0 ENSG00000278847 chrY 2934406 2934771 - AC006157.1 lincRNA 0 2 0 0 1 0 0 3 0 ENSG00000278848 chr16 33459045 33462249 + TP53TG3F protein_coding 102724127 GO:0005737, GO:0005634, cytoplasm, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000278849 chr9 66159954 66179430 - AL513478.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278851 chr11 65018505 65018570 + MIR6879 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466756 0 0 0 0 0 0 0 0 0 ENSG00000278852 chr1 11845549 11845697 + RF02157 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000278854 chrY 7845485 7846454 - AC007275.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000278857 chr2 90159840 90160335 + IGKV1D-12 IG_V_gene 0 0 0 3 0 0 0 0 0 ENSG00000278859 chr11 91992833 91993255 + AP002799.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278860 chr17 34614409 34614809 + AC005691.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278861 chr12 123655528 123656128 + AC117503.2 TEC 2 0 0 0 0 0 0 0 0 ENSG00000278862 chr16 77657174 77660570 + AC092724.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278863 chr17 59362665 59363278 + AC091059.2 TEC 0 0 0 0 2 1 0 0 3 ENSG00000278864 chr17 17181504 17183257 + AC055811.4 TEC 6 14 21 46 21 47 30 20 17 ENSG00000278865 chr5 10676096 10676423 - AC012629.3 TEC 1 0 0 0 0 0 0 0 0 ENSG00000278866 chr12 126675895 126676243 - AC006065.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278867 chr17 32051030 32053208 + AC090616.6 TEC 8 10 10 19 25 26 16 14 23 ENSG00000278869 chr22 49933198 49934074 - BX539320.1 lincRNA 41 15 27 14 11 32 22 14 37 ENSG00000278870 chr11 4923374 4924339 - OR51G1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 79324 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000278872 chr12 132279256 132280900 - AC148477.5 TEC 0 0 0 1 0 0 0 0 0 ENSG00000278873 chr17 69232963 69235012 - PRO1804 TEC 100133319 1 0 0 0 0 0 2 2 0 ENSG00000278874 chr5 10070531 10070841 + AC091905.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278875 chr19 31364297 31366098 + AC025809.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278876 chr17 81862778 81863102 + AC145207.9 TEC 0 2 0 13 26 31 21 0 23 ENSG00000278877 chr5 8754869 8755159 + AC091932.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278878 chr21 6667304 6670667 - CU638689.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278879 chr11 74830574 74832510 - AP000560.1 TEC 18 8 18 6 7 27 5 6 10 ENSG00000278880 chr4 156886645 156886862 + AC092608.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278881 chr22 47115838 47117217 - FP325331.1 TEC 21 8 28 21 46 24 17 20 35 ENSG00000278884 chr21 7020599 7025166 + CU634019.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278885 chr16 31566360 31567000 - AC106730.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278886 chr8 18864681 18865247 - AC087821.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278887 chr16 30205418 30206927 + AC106782.7 transcribed_unprocessed_pseudogene 0 0 0 0 0 8 0 0 0 ENSG00000278889 chr9 35957108 35958154 - OR2S2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. 56656 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000278890 chr22 48052646 48058275 + FP325330.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278891 chr18 48147634 48150864 - AC105101.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278892 chr11 93071529 93072031 + AP002371.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278893 chr16 64981123 64983227 - AC010533.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278894 chr7 113451072 113451402 + AC073348.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278895 chr19 29915862 29917830 + AC008507.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278896 chr12 46404644 46407166 + AC025031.5 TEC 1 0 2 0 4 0 3 5 0 ENSG00000278897 chr19 11856032 11858302 + AC020951.1 TEC 10 7 12 8 2 11 6 8 14 ENSG00000278898 chr8 134764809 134767276 + AC087045.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278899 chr6 149717621 149718888 + AL358852.1 antisense 645967 16 12 16 10 9 14 18 9 15 ENSG00000278900 chr5 34105750 34106336 - AC139792.2 TEC 1 0 1 0 0 0 0 0 0 ENSG00000278901 chr5 140878073 140882642 - AC005609.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278902 chr18 73921939 73922631 - AC010947.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278903 chr21 6318434 6360415 + CU633906.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278905 chr5 93600357 93603598 + AC106818.1 TEC 0 0 0 0 0 0 0 1 0 ENSG00000278907 chr5 140849105 140849696 - AC005609.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278908 chr2 30677762 30679895 + AC132154.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278909 chr16 50555355 50558719 + AC007608.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278910 chr9 69296682 69311111 - BANCR lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278911 chr18 75103587 75106260 - AC015819.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000278912 chr16 23696665 23697314 - AC008870.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278913 chr5 6134303 6137171 + AC026797.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278914 chr8 98391401 98391514 - AP003355.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278915 chr5 140875346 140875922 - AC005609.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278916 chr12 94460003 94462484 + CEP83-DT lincRNA 144486 0 0 4 0 4 5 0 2 10 ENSG00000278917 chr19 43891233 43895411 + AC006213.6 TEC 0 1 0 1 0 0 0 2 0 ENSG00000278918 chr17 40348049 40350539 - AC080112.3 TEC 834 880 1060 443 875 740 471 636 613 ENSG00000278920 chr22 31051630 31068327 + AC005005.4 sense_overlapping 0 0 1 0 0 0 0 0 0 ENSG00000278921 chr5 112419583 112420978 + EPB41L4A-DT lincRNA 54508 0 0 0 0 1 0 0 0 0 ENSG00000278922 chr16 30526918 30528294 + AC002310.6 TEC 5 12 7 9 12 11 8 7 1 ENSG00000278923 chr18 15056845 15066598 - AP005242.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278924 chr2 172423807 172424173 - AC078883.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278925 chr5 141825708 141826325 - AC005753.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278926 chr16 77800023 77801714 + AC092134.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278927 chr21 6550749 6553955 - FP236240.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278928 chr16 55704119 55706422 + AC136621.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278929 chr11 87565994 87566421 + AP001784.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278931 chr21 8857260 8880976 + CR381670.1 unprocessed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000278932 chr21 9325013 9368775 + CR381653.1 lincRNA 0 0 3 0 0 0 0 0 0 ENSG00000278933 chr18 43499173 43499836 + AC022743.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278934 chr3 73624410 73627626 + AC117489.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278935 chr15 20141794 20146430 + AC087386.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278936 chr5 141183401 141201396 - AC244517.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278941 chr17 2235713 2236086 - SMG6-IT1 TEC 0 0 0 0 0 2 0 0 0 ENSG00000278942 chr16 3533429 3534258 - AC004494.2 TEC 0 0 0 0 1 2 3 0 0 ENSG00000278943 chr4 145376909 145377957 + AC079228.1 TEC 1 1 0 0 0 0 0 0 0 ENSG00000278944 chr17 9791227 9808855 - AC027045.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000278945 chr11 116609995 116610094 - AP000770.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278946 chr5 140867513 140867959 - AC005609.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278948 chr22 37943050 37944898 + AL031587.5 TEC 26 35 15 24 34 27 15 31 37 ENSG00000278949 chr12 132865855 132867958 - AC127070.4 TEC 25 35 36 14 30 16 21 15 21 ENSG00000278950 chr16 32781883 32784138 + AC138907.8 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278952 chr11 65118310 65119111 + AP003068.4 TEC 0 0 4 10 25 33 7 2 9 ENSG00000278953 chr11 93592187 93592669 + AP003499.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278954 chr17 41665566 41668031 + AC130686.1 TEC 0 0 0 0 0 0 0 1 6 ENSG00000278955 chr21 6858539 6897263 + FP475955.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000278957 chr2 44927914 44928396 - AC012354.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278958 chr5 104434772 104435499 + AC091931.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278959 chr7 93954044 93956519 - AC006378.2 TEC 0 1 0 9 0 2 0 1 0 ENSG00000278960 chr22 25756318 25756669 - AL022329.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278961 chr21 7784482 7793954 - SMIM34B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000278962 chr2 112188364 112190635 + AC092645.1 TEC 1 0 6 3 0 0 7 0 3 ENSG00000278963 chr17 50722074 50724224 + AC005921.3 TEC 4 2 5 0 2 1 3 1 7 ENSG00000278964 chr17 82362349 82363196 - AC132938.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278965 chr5 180078357 180081691 - AC122713.2 TEC 1 0 0 0 2 4 1 0 1 ENSG00000278966 chr1 32973553 32974463 + AL031602.1 TEC 5 9 17 1 5 10 7 8 0 ENSG00000278967 chr1 62607766 62609584 + AL138847.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278969 chr12 24902309 24904681 + AC026310.3 TEC 3 0 3 1 2 0 0 0 5 ENSG00000278970 chr5 180829954 180831605 - HEIH TEC 100859930 285 377 323 316 415 433 346 452 407 ENSG00000278971 chr18 70489630 70491205 + AC091305.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278972 chr17 69433084 69435533 + AC015920.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278973 chr12 124622290 124623069 - AC073592.2 TEC 0 0 0 2 0 0 0 0 0 ENSG00000278974 chr4 188740507 188741281 - AC093909.6 TEC 4 9 11 4 14 7 2 5 4 ENSG00000278975 chr16 6703883 6705558 + AC007012.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278977 chr17 31533171 31533938 - AC003101.3 TEC 105 99 133 19 54 55 51 38 27 ENSG00000278978 chr4 151669786 151670503 + AC092611.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278979 chr16 12374355 12376032 + AC007598.3 TEC 0 0 0 0 0 2 0 1 0 ENSG00000278980 chr11 91208838 91209590 - AP003485.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278981 chr4 154235980 154237598 + AC079298.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000278982 chr10 7411599 7413467 + AL139125.2 TEC 0 1 0 0 0 0 0 0 0 ENSG00000278983 chr18 48564795 48568342 + AC048380.2 TEC 0 0 0 0 0 0 0 2 0 ENSG00000278985 chr16 80982319 80984094 - AC092718.7 TEC 7 7 6 4 3 11 20 5 6 ENSG00000278986 chr18 35972151 35973916 + AC091060.1 TEC 1 0 1 3 0 0 0 1 0 ENSG00000278987 chr16 1688355 1690536 + AL031009.1 TEC 0 2 4 1 4 2 1 0 2 ENSG00000278988 chr9 82543718 82544196 + AL356490.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278989 chr11 86434924 86437282 - AP001148.1 TEC 0 0 2 0 0 0 0 0 5 ENSG00000278990 chr14 98916902 98917801 - AL132796.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278991 chr15 77063397 77064910 - AC090181.3 TEC 1 3 2 2 4 3 0 1 6 ENSG00000278992 chr10 76270206 76270800 + AC012048.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278993 chr12 110501614 110503441 + AC002350.1 TEC 26 20 55 19 53 24 48 43 35 ENSG00000278994 chr16 18201501 18201956 + AC008785.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278995 chr16 74683 74961 + Z69720.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000278996 chr21 8197620 8227646 + FP671120.1 lincRNA 0 0 1 0 0 0 0 3 0 ENSG00000278997 chr1 33141871 33143230 - AL662907.1 TEC 17 9 13 10 24 36 31 10 47 ENSG00000278998 chr7 155222903 155223851 + AC099552.4 TEC 1 2 0 0 2 0 0 0 0 ENSG00000278999 chr19 47661657 47663895 - AC008985.1 TEC 0 4 0 0 2 0 8 2 1 ENSG00000279000 chr11 7924592 7931268 - OR10A6 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 390093 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279001 chr12 121096027 121096429 - AC079602.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279002 chr5 8659764 8660059 - AC091953.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279004 chr11 38013510 38014141 - AC103798.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279005 chr7 74633510 74633884 - AC211433.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279006 chr22 25048967 25051966 - AL022323.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279009 chr19 1576939 1577086 + AC005943.2 TEC 8 14 11 18 7 25 10 3 18 ENSG00000279011 chr5 10057502 10057807 + AC091905.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279012 chr11 5323359 5324297 - OR51B2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 79345 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279013 chr4 91603275 91605292 + AC110774.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279014 chr15 45214448 45215044 - AC051619.9 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279015 chr2 225761559 225762112 + AC016717.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279016 chr4 148819351 148819956 - AC093648.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279017 chr3 45749627 45750651 + AC098476.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279019 chr16 57140896 57144586 - AC009090.4 TEC 21 21 27 41 74 19 55 34 41 ENSG00000279020 chr18 13239543 13242076 + C18orf15 TEC 147276 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000279021 chr16 81463892 81464859 - AC092139.2 TEC 4 9 18 3 8 6 24 3 17 ENSG00000279022 chr6 80440730 80441172 + AL359715.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279023 chr12 132360734 132361198 + AC148477.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279024 chr2 136230753 136233245 + AC112255.1 TEC 31 62 52 4 8 24 1 7 4 ENSG00000279025 chr13 38372856 38373935 + AL356863.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279026 chr14 73580694 73582918 + AC005225.4 TEC 1 2 0 0 0 0 1 0 0 ENSG00000279028 chr5 140966212 140966490 - AC010223.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279029 chr10 24481180 24483034 - AL353583.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279030 chr16 55486618 55488777 + AC007336.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279031 chr16 3292879 3293403 + AC004232.3 TEC 2 0 1 9 14 9 10 6 9 ENSG00000279032 chr14 30370108 30373115 + AL079305.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279033 chr15 77484275 77485606 - AC090984.1 TEC 14 14 20 23 15 27 6 10 18 ENSG00000279034 chr18 40062903 40066471 - AC011266.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279035 chr17 75130883 75133043 + AC022211.4 TEC 34 52 39 41 88 98 42 57 64 ENSG00000279036 chr17 49494223 49497800 - AC015656.1 TEC 0 0 0 0 1 0 0 0 0 ENSG00000279039 chr19 20207192 20209789 - AC011447.6 TEC 0 0 0 0 0 0 1 0 0 ENSG00000279040 chr17 2101542 2101667 + AC090617.6 TEC 3 0 0 0 0 0 0 0 0 ENSG00000279041 chr8 30552345 30553766 + AC102945.2 TEC 0 1 0 1 6 1 0 3 0 ENSG00000279042 chr18 14990707 14993235 - AP005242.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279043 chr7 108900105 108905226 - AC004014.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279044 chr19 13081966 13082564 + AC007787.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279045 chr11 89548130 89548795 - AP003400.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279046 chr11 134985683 134986799 + AP003062.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279047 chr5 141046260 141096402 - AC244517.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279048 chr7 17940503 17942922 + AC080080.1 TEC 3 4 3 8 9 11 0 7 7 ENSG00000279049 chr1 54099968 54100224 - AL353898.2 pseudogene 4 4 6 0 4 11 3 1 1 ENSG00000279050 chr15 25135642 25138055 + PWAR1 TEC 145624 0 0 0 0 0 0 0 0 0 ENSG00000279051 chr11 58030930 58031931 + OR6Q1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. 219952 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279056 chr11 89556860 89557205 + AP003400.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279057 chr16 2620222 2621794 - AC141586.4 TEC 7 3 7 2 6 7 2 9 11 ENSG00000279058 chr10 46337224 46358714 + AGAP14P unprocessed_pseudogene 99 70 127 78 125 129 81 94 83 ENSG00000279059 chr17 54956760 54958426 - AC007485.2 TEC 0 4 12 16 1 10 2 1 15 ENSG00000279061 chr1 172752586 172752924 + Z98043.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279062 chr21 10136419 10137004 + CR382287.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279063 chr19 55467438 55467934 - AC008735.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279064 chr21 5707004 5709456 - FP236315.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279065 chr13 20194412 20196005 + AL138688.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279066 chr17 82425498 82427310 + HEXDC-IT1 sense_intronic 3 2 3 22 15 18 11 5 13 ENSG00000279067 chr7 96118647 96119995 + AC002540.1 TEC 0 0 0 0 0 2 0 0 0 ENSG00000279068 chr5 141182409 141188582 + AC244517.6 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000279069 chr17 58006674 58008187 + AC015813.5 TEC 240 223 311 238 223 291 222 230 266 ENSG00000279070 chr2 74196698 74198560 - AC073263.2 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000279071 chr12 124537844 124539677 + AC073592.3 TEC 0 1 0 0 3 0 0 1 0 ENSG00000279072 chr7 56809214 56848800 - AC118758.3 lincRNA 0 0 2 0 1 0 0 0 2 ENSG00000279073 chr9 137031241 137040436 - AL807752.6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000279074 chr18 35483431 35483667 - AC007998.5 TEC 0 0 1 0 1 0 0 0 0 ENSG00000279075 chr5 8458842 8459183 + AC091965.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279076 chr6 44551577 44553281 + AL136140.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279077 chr18 79352458 79354567 + AC023090.2 TEC 1 3 3 2 6 0 3 5 1 ENSG00000279078 chr7 127997597 128000077 + SND1-IT1 lincRNA 27099 11 7 19 8 13 31 12 17 19 ENSG00000279080 chr22 38130216 38150612 + AL022322.2 antisense 27 41 46 40 54 52 44 57 43 ENSG00000279081 chr13 18206570 18207466 - AL356585.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279082 chr20 21569976 21619674 + LINC01727 lincRNA 0 0 0 0 0 0 2 1 0 ENSG00000279083 chr9 35360540 35362054 - AL160274.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279085 chr22 25009685 25015072 - AL022323.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279086 chr7 116209234 116211511 - AC073130.3 TEC 57 34 108 53 19 54 42 32 53 ENSG00000279087 chr12 124637999 124638444 - AC073592.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279088 chr10 73742995 73744230 - AC022400.7 TEC 24 30 45 24 12 54 36 17 35 ENSG00000279089 chr17 51183191 51186403 - AC005839.1 TEC 51 54 90 61 99 63 54 68 35 ENSG00000279090 chr11 132403360 132404060 - AP000843.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279091 chr15 97533738 97541476 - AC026523.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279092 chr15 34415450 34420273 - AC025678.3 TEC 0 0 0 0 0 4 4 1 0 ENSG00000279093 chr11 65561484 65561607 + AP001362.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279094 chr21 5499151 5502542 - LINC01670 lincRNA 105379487 0 0 0 0 0 0 0 0 0 ENSG00000279095 chr19 44664131 44666158 + AC243964.3 TEC 21 36 13 15 53 15 10 22 22 ENSG00000279096 chr1 48102068 48104736 + AL356289.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279097 chr5 8572047 8572206 + AC091953.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279098 chr4 99942081 99942522 - AC097460.3 TEC 0 2 0 2 4 1 0 0 7 ENSG00000279099 chr8 35254344 35256605 + AC090740.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279100 chr16 74150520 74151299 + AC009120.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279103 chr19 44246478 44248374 - AC138470.1 TEC 1 0 1 0 0 0 0 0 0 ENSG00000279104 chr7 49760897 49762764 - AC093775.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279106 chr16 29204633 29205855 + AC009093.7 TEC 19 15 11 3 22 6 15 6 9 ENSG00000279107 chr5 21493436 21494596 + AC138951.2 TEC 0 0 0 0 0 2 0 0 0 ENSG00000279108 chr19 40840159 40842039 + AC008537.3 TEC 69 47 43 94 72 66 97 39 46 ENSG00000279110 chr22 25052122 25065241 - AL022323.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279111 chr1 158578919 158579899 - OR10X1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 128367 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279113 chr12 132332005 132332432 + AC148477.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279114 chr6 122471923 122484161 + Z99129.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279115 chrY 25307729 25307803 + AC006386.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279116 chr11 124319238 124320288 - OR8D2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 283160 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279117 chr11 75260129 75262466 - AP001972.5 TEC 156 257 195 331 576 529 367 358 283 ENSG00000279118 chr5 126496279 126498604 + AC093535.2 TEC 0 0 1 0 1 0 1 0 2 ENSG00000279119 chr17 38727833 38728198 - AC006449.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279120 chr16 73293866 73294296 - AC009033.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279121 chr12 124555905 124556432 + AC073592.5 TEC 2 1 0 0 2 3 0 1 0 ENSG00000279122 chr16 70768967 70770221 - AC020763.2 TEC 0 0 0 6 3 5 1 0 1 ENSG00000279123 chr16 70778433 70779145 + AC027281.2 TEC 0 0 1 15 12 9 7 4 1 ENSG00000279124 chr13 18279320 18309934 - AL356585.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279125 chr5 8685581 8685816 - AC091953.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279127 chr6 49721931 49724007 + AL121950.1 TEC 0 1 0 1 0 0 0 1 5 ENSG00000279128 chr12 131022769 131024741 - AC078925.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279129 chr16 78550739 78553296 - AC046158.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279130 chr5 143406959 143407420 + AC091925.1 TEC 1 0 2 5 4 3 2 3 3 ENSG00000279133 chr17 62003700 62007518 - AC018628.1 TEC 47 35 44 35 48 45 56 49 64 ENSG00000279134 chr12 58094914 58098013 - AC090643.1 TEC 0 0 0 0 0 0 0 2 0 ENSG00000279135 chr13 20712431 20714146 + AL512652.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279136 chr16 769119 769443 - AL031258.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279137 chr9 126518840 126520773 + AL356309.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279138 chr8 104478539 104480783 - AP002847.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279139 chr4 158109500 158110153 - AC098679.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279140 chr14 104815449 104815753 - AL590326.1 TEC 0 0 6 0 1 3 0 1 0 ENSG00000279141 chr9 136612024 136617181 - LINC01451 lincRNA 401561 29 52 50 19 61 23 25 40 23 ENSG00000279142 chr16 86595189 86597639 + AC009108.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279143 chr17 83132647 83136150 - AC139099.4 TEC 0 0 1 1 1 0 0 0 0 ENSG00000279144 chr3 52848085 52848553 - AC099667.1 TEC 0 0 1 0 1 0 0 2 1 ENSG00000279145 chr15 55171378 55176739 - AC011912.1 lincRNA 4 3 3 1 6 15 8 0 5 ENSG00000279146 chr12 130465008 130466315 - AC063926.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279147 chr3 141936707 141938547 - AC112504.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279148 chr12 100026248 100027540 - AC126474.1 TEC 10 15 12 4 12 8 9 12 28 ENSG00000279149 chr13 30344672 30347167 + AL356750.1 TEC 2 3 1 4 1 3 7 1 3 ENSG00000279151 chr1 16701546 16705594 + AL021920.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279152 chr17 8188933 8189688 + AC129492.7 TEC 28 61 44 32 71 39 37 51 30 ENSG00000279153 chr12 131645918 131646444 + AC117500.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279154 chr9 88177695 88178578 + AL353726.2 TEC 0 0 0 0 0 4 0 0 0 ENSG00000279155 chrX 48939992 48940808 + AC233300.1 TEC 96 117 107 50 90 76 60 62 87 ENSG00000279156 chr21 18917213 18917429 + AL157359.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279157 chr13 106941950 106942561 - AL162574.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279159 chr22 29978950 30028236 - AC003681.1 antisense 4101 4430 5405 3225 4592 4198 3434 3207 3319 ENSG00000279160 chr2 176189919 176192538 - AC009336.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279161 chr19 46636810 46639161 - AC093503.3 TEC 2 0 0 0 0 9 0 3 0 ENSG00000279162 chr16 2592514 2594563 + AC141586.5 TEC 17 26 11 19 45 53 30 27 50 ENSG00000279163 chr11 89704164 89704658 + AP003122.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279164 chr20 23148086 23149939 + AL118508.3 TEC 20 103 56 23 37 58 12 96 59 ENSG00000279165 chr16 34941977 34943880 + AC135776.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279166 chr2 144494265 144496878 - AC009951.1 TEC 6 34 24 11 18 20 31 10 26 ENSG00000279167 chr21 8701461 8701562 + CR381572.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279168 chr7 102579104 102679295 - AC105052.4 sense_overlapping 0 8 0 3 17 3 3 7 0 ENSG00000279169 chr1 13196330 13201409 - PRAMEF13 protein_coding 400736 0 0 0 0 0 0 0 0 0 ENSG00000279170 chr6 99587611 99589898 + AL137784.3 TEC 100130890 0 1 0 0 0 0 0 0 0 ENSG00000279171 chr12 126677262 126677806 + AC006065.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279172 chr19 18009440 18009881 - AC020904.3 TEC 98 93 133 53 51 31 64 55 49 ENSG00000279173 chr12 25423600 25424942 + AC092451.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279174 chr17 8013327 8016378 - AC104581.3 TEC 1 0 0 0 0 0 1 0 0 ENSG00000279175 chr22 44102779 44116232 + AL033543.1 sense_intronic 0 0 1 0 0 1 0 1 0 ENSG00000279176 chr12 104552073 104553447 + AC079316.2 TEC 3 3 2 5 0 19 5 2 7 ENSG00000279177 chr21 7626344 7627528 - FP236241.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279179 chr1 33162851 33166298 + AL662907.2 TEC 27 50 38 26 47 47 36 25 31 ENSG00000279180 chr12 128288159 128289056 + AC061709.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279181 chr2 73998337 73998548 - AC110801.1 TEC 1 0 1 0 1 1 4 1 4 ENSG00000279182 chr22 50316035 50317025 + CR559946.2 antisense 0 0 2 0 0 8 1 0 0 ENSG00000279186 chr21 5703182 5705637 - FP236315.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279187 chr17 81262920 81265401 + AC027601.5 TEC 16 6 18 1 1 4 10 6 13 ENSG00000279189 chr11 133297189 133302634 - AP003972.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279190 chr12 97150081 97154627 - AC007656.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279191 chr2 111321433 111324812 - AC068491.4 TEC 16 15 16 16 30 21 19 21 16 ENSG00000279192 chr15 24985053 24988232 + PWAR5 TEC 10 11 25 35 0 17 32 7 18 ENSG00000279193 chr12 130121925 130122974 - AC026336.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279196 chr16 30984630 30988270 - AC135048.4 TEC 6 11 20 13 12 18 42 29 14 ENSG00000279197 chr5 133574829 133575298 - AC010608.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279198 chr19 16074293 16077395 - AC008894.3 TEC 655 568 964 275 248 307 303 223 294 ENSG00000279199 chr17 40113215 40115442 - AC068669.1 TEC 7 5 3 2 13 3 5 1 16 ENSG00000279200 chr17 17616043 17617745 + AC020558.3 TEC 0 1 0 0 1 0 2 0 0 ENSG00000279201 chr2 74191388 74192245 + AC073263.3 TEC 0 0 1 0 0 1 0 0 9 ENSG00000279202 chr16 24098239 24099971 + AC130448.1 TEC 4 7 9 7 10 10 27 9 3 ENSG00000279203 chr19 15383202 15383832 - AC005785.2 TEC 16 13 8 5 5 5 2 5 14 ENSG00000279204 chr5 159106380 159108617 + AC134043.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279205 chr2 176822030 176823653 + AC092162.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279206 chr16 72772673 72773272 + AC004943.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279207 chr17 58095672 58101479 + AC015813.6 TEC 31 31 40 60 72 98 49 39 62 ENSG00000279208 chr21 9369285 9376645 - CR381653.2 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000279209 chr11 91013787 91015299 + AP001002.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279211 chr21 9580024 9580415 - AC124864.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279212 chr10 26695091 26697625 - AL390961.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279213 chr21 8801362 8801880 - SNX18P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279214 chr1 48262230 48263179 - AL109659.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279217 chr22 36071000 36085573 + Z95114.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279218 chr2 234082259 234084490 + AC006037.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279220 chr2 206203376 206265326 + GPR1-AS processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000279221 chr18 69659837 69663413 + AC068254.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279222 chr5 1858409 1859890 - AC025183.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279223 chr7 143224042 143224234 - AC073342.3 TEC 0 0 2 0 0 0 0 0 0 ENSG00000279225 chr16 63397707 63397946 + AC138305.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279226 chr21 6520344 6520670 - FP236240.2 TEC 0 0 0 1 1 0 0 0 0 ENSG00000279227 chr2 118014174 118015673 + AC009303.4 TEC 8 10 18 20 30 31 41 41 49 ENSG00000279228 chr16 29466069 29467578 + AC133555.5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279231 chr13 18331933 18348596 + AL356585.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279232 chr5 98792861 98795766 - AC008522.1 antisense 3 2 6 13 2 16 15 2 5 ENSG00000279233 chr12 125138245 125141711 + AC122688.3 TEC 2 8 10 12 17 9 18 10 4 ENSG00000279235 chr15 78906127 78906809 + AC011944.2 TEC 1 2 7 2 0 0 5 0 0 ENSG00000279236 chr18 62551203 62552505 + AC064801.2 TEC 5 7 11 0 2 8 3 3 6 ENSG00000279237 chr13 110265251 110266113 - AL161773.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279239 chr10 42470082 42470268 - AL391099.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279240 chr5 136376348 136397042 - AC063980.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279243 chr11 65487241 65488228 - AP000769.3 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000279245 chrX 154571248 154571960 + FAM223A lincRNA 100132967 0 2 0 0 0 2 0 0 0 ENSG00000279246 chr11 61352244 61354477 + AP003108.3 TEC 9 14 24 10 24 36 16 9 15 ENSG00000279248 chr11 89533645 89534043 - AP003400.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279249 chr16 49282037 49350504 + AC007614.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279250 chr18 48755693 48756318 + AC022919.1 TEC 0 0 1 0 0 0 0 0 0 ENSG00000279251 chr17 19855747 19856164 + AC015726.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279253 chr20 35262727 35264187 - AL121753.2 TEC 51 62 80 141 181 141 160 87 118 ENSG00000279254 chr2 46668870 46670778 + AC020604.1 TEC 4 3 13 26 20 23 20 22 7 ENSG00000279255 chr16 707650 709067 + Z97653.2 TEC 8 2 6 0 5 0 3 0 0 ENSG00000279256 chr9 26642697 26644595 - AL442639.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279259 chr17 80147250 80148596 + AC087741.3 TEC 6 5 6 19 22 41 11 17 22 ENSG00000279261 chr1 234757619 234760056 - AL360294.1 lincRNA 100130249 0 0 0 1 0 0 0 2 0 ENSG00000279262 chr19 18448275 18448802 + AC010335.2 TEC 11 15 12 71 62 82 52 52 38 ENSG00000279263 chr1 247948858 247949796 + OR2L8 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 391190 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, GO:0003674, olfactory receptor activity, G protein-coupled receptor activity, molecular_function, GO:0050911, GO:0008150, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, biological_process, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279264 chr5 8614356 8614696 + AC091953.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279265 chr7 127349833 127350293 - AC000123.2 TEC 4 5 17 4 13 18 6 16 9 ENSG00000279266 chr11 20131730 20135465 + AC068860.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279267 chr2 113605867 113607908 - AL078621.3 TEC 1 4 2 10 0 7 4 5 4 ENSG00000279268 chr15 65226472 65226697 - AC068213.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279269 chr11 93206990 93207583 - AP003072.3 TEC 1 0 0 19 23 48 20 14 30 ENSG00000279270 chr11 4803433 4804380 - OR52R1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 119695 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279271 chr8 17498647 17499238 - AP006248.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279273 chr17 80463451 80465593 - AC120024.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279274 chrY 24362335 24362409 - AC012005.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279275 chr18 13279415 13280110 - AP002505.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279276 chr16 23962951 23963351 + AC130454.1 TEC 1 1 1 1 1 4 0 0 0 ENSG00000279277 chr3 108036718 108038445 - AC012020.1 TEC 9 16 14 21 17 37 28 20 14 ENSG00000279278 chr22 22264601 22273020 + AC245060.6 lincRNA 3 16 6 5 23 9 0 9 11 ENSG00000279281 chr17 57448218 57450291 + AC015883.1 TEC 1 0 0 2 0 0 0 1 0 ENSG00000279283 chr12 131896500 131898239 + AC131009.4 TEC 94 88 91 8 48 27 37 28 22 ENSG00000279284 chr6 41381392 41381832 - AL136967.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279285 chr18 12199345 12200089 + AP005264.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279286 chr14 91572444 91575271 - AL133373.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279288 chr7 113075124 113077181 - AC073346.2 TEC 0 0 0 3 0 0 0 0 0 ENSG00000279289 chr6 71386852 71390829 - AL136164.3 TEC 0 0 1 0 0 0 0 0 0 ENSG00000279294 chr16 81618505 81620563 + AC092135.1 TEC 4 0 4 1 1 1 4 2 4 ENSG00000279295 chr11 79966805 79968708 + AP001541.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279296 chr17 6772831 6776116 - PRAL TEC 291 183 464 339 335 502 407 209 349 ENSG00000279297 chr11 89297717 89298199 + AP000720.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279298 chr22 25251523 25252602 - Z99916.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279299 chr11 90125658 90126061 + AP000648.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279300 chr19 17622447 17623338 + AC008761.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279301 chr1 248623557 248635091 - OR2T11 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 127077 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279302 chr8 27701194 27703789 + AC013643.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279303 chr21 7135334 7137789 - CU634019.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279304 chr11 93133855 93134164 + AP003072.4 TEC 1 0 1 3 1 0 0 0 0 ENSG00000279305 chr3 154334809 154337047 - AC134026.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279306 chr1 228486188 228487120 - AL139288.1 TEC 1 0 0 4 0 0 0 0 0 ENSG00000279307 chr2 20529467 20529976 - AC012065.5 processed_pseudogene 0 0 1 1 1 0 0 0 3 ENSG00000279310 chr12 67065018 67065278 - AC073530.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279311 chr3 158869898 158871821 + AC092999.1 TEC 6 12 19 4 11 23 15 11 6 ENSG00000279312 chr6 71373253 71375387 - AL136164.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279313 chr21 6994374 6997737 - CU634019.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279314 chr13 31960325 31961946 - AC002525.1 TEC 0 0 0 1 0 0 0 2 0 ENSG00000279315 chr10 112831169 112832454 + AL158212.4 TEC 7 1 1 0 0 0 1 0 0 ENSG00000279317 chr2 210171518 210233976 + AC006994.2 bidirectional_promoter_lncRNA 0 0 0 0 0 0 2 2 0 ENSG00000279319 chr18 44986109 44989203 + AC105074.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279320 chr3 146504570 146506560 - AC069528.2 TEC 22 14 30 14 31 11 12 13 3 ENSG00000279321 chr21 9913117 9914846 + AC018692.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279322 chr20 25226448 25226735 - AL035252.4 TEC 1 1 5 13 4 3 0 0 0 ENSG00000279324 chr1 49994318 49996218 + AL645730.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279325 chr13 53193667 53198540 + AL136359.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279326 chr7 80972516 80974724 - AC004972.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279328 chr3 126432796 126434569 - AC073439.1 TEC 6 0 3 0 6 0 7 1 4 ENSG00000279329 chr19 34675717 34677581 - AC020910.5 TEC 2 0 0 3 3 2 0 0 0 ENSG00000279330 chr16 3273609 3275807 + AJ003147.3 TEC 66 80 70 163 209 249 196 140 132 ENSG00000279331 chr8 93740121 93740773 + RBM12B-AS1 TEC 55472 13 15 25 20 12 29 26 7 4 ENSG00000279332 chr18 24135468 24135829 - AC090772.4 TEC 3 0 3 6 3 8 12 0 2 ENSG00000279333 chr1 210678315 210681932 + AC096636.1 TEC 2 0 0 0 0 0 0 0 6 ENSG00000279334 chr12 124561869 124562283 + AC073592.6 TEC 0 0 0 0 0 3 0 2 0 ENSG00000279336 chr9 34201273 34201515 - AL353662.3 pseudogene 2 4 1 4 9 17 8 7 9 ENSG00000279337 chr17 30724982 30725181 - AC127024.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279339 chr17 78897264 78900152 + AC100788.2 TEC 24 18 25 11 35 41 31 23 32 ENSG00000279340 chr17 2122342 2122508 - AC090617.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279341 chr11 87718667 87721233 - AP000756.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279342 chr11 124789240 124792818 - AP000866.6 sense_intronic 0 0 4 8 3 12 7 1 1 ENSG00000279343 chr12 130350996 130351707 - AC127071.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279344 chr16 53478957 53481550 - AC007342.6 TEC 384 325 504 305 340 333 315 277 364 ENSG00000279345 chr22 49805452 49807208 + Z98885.3 antisense 5 8 7 3 5 10 8 7 8 ENSG00000279347 chr8 119838736 119840385 - AC021945.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279348 chr2 216211404 216213519 + AC012513.3 TEC 7 9 11 12 14 25 23 3 5 ENSG00000279349 chr3 112525548 112528142 - AC092692.1 TEC 21 9 38 22 29 35 21 14 19 ENSG00000279352 chr18 14010054 14010917 + AC006557.6 TEC 0 0 0 0 0 1 0 0 0 ENSG00000279353 chr11 74698231 74699658 - AP001324.3 TEC 0 0 0 0 0 0 1 0 3 ENSG00000279354 chr18 46915021 46915623 - AC090373.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279355 chr6 161160105 161161982 - AGPAT4-IT1 TEC 5 2 7 9 7 5 24 2 2 ENSG00000279356 chr16 50072862 50074986 + AC007610.4 TEC 1 4 0 4 1 0 0 0 0 ENSG00000279357 chr16 8666762 8667271 + AC007224.2 TEC 2 8 1 6 4 6 3 3 0 ENSG00000279358 chr11 126934886 126937150 - AP002833.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279359 chr10 80249710 80254121 + AL359195.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279360 chr12 110056916 110057275 - AC007546.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279361 chr17 67637774 67638973 + AC079331.1 TEC 7 2 4 0 1 9 2 8 0 ENSG00000279364 chr15 34978351 34980084 + AC114546.3 TEC 77 71 68 61 49 75 68 56 60 ENSG00000279365 chr21 36485867 36487760 + AP000695.3 TEC 0 0 0 0 0 0 0 2 0 ENSG00000279366 chr18 47912207 47912504 - AC120349.2 TEC 0 0 0 3 0 0 0 0 0 ENSG00000279367 chr18 47501172 47503106 + AC102797.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279368 chr6 6685148 6686984 + AL031123.3 TEC 9 4 3 4 6 12 2 3 17 ENSG00000279369 chr17 63700847 63702670 + AC046185.3 TEC 140 117 132 41 70 41 40 66 58 ENSG00000279370 chr5 131261321 131261607 - AC004777.1 TEC 0 1 2 0 0 0 3 2 0 ENSG00000279372 chr17 82035403 82035800 - AC137723.2 TEC 0 0 0 0 3 3 0 0 0 ENSG00000279373 chr15 78537681 78538946 + AC027228.3 TEC 0 0 0 0 0 0 1 0 0 ENSG00000279375 chr5 141191599 141194088 - AC244517.7 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279376 chr4 147025914 147030072 + AC092435.4 TEC 0 0 0 2 0 0 0 0 0 ENSG00000279377 chr19 21965708 21968529 - AC003973.3 TEC 186 2 8 144 4 0 154 3 10 ENSG00000279378 chr16 79675685 79677715 - AC009159.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279379 chr4 19257951 19258337 - AC024595.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279381 chr21 9088188 9088391 + CR392039.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279382 chr17 76090308 76091669 + AC018665.1 TEC 38 53 49 61 73 52 67 37 72 ENSG00000279384 chr4 168843988 168844735 + AC080188.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279386 chr4 37866561 37867091 - AC021106.3 TEC 10 14 14 18 21 13 7 9 5 ENSG00000279387 chr19 29506966 29509041 - AC011474.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279388 chr12 131478844 131483034 - AC073578.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279390 chr21 15050189 15052379 + AF127577.6 TEC 0 1 1 1 0 5 2 0 3 ENSG00000279391 chr11 8075573 8077781 - AC116456.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279392 chr14 55229217 55229681 + AL158801.5 processed_pseudogene 1 0 1 1 1 0 2 2 1 ENSG00000279393 chr13 28495633 28497267 + AL139005.1 TEC 3 0 8 0 0 0 0 0 5 ENSG00000279394 chr15 79875920 79878179 - AC015871.4 TEC 18 17 15 5 11 0 7 11 6 ENSG00000279395 chr11 55811367 55812476 + OR5L1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 219437 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279397 chr18 79515798 79516057 - AC018445.2 TEC 0 0 1 3 1 0 2 0 0 ENSG00000279398 chr6 108178871 108179317 + AL078596.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279399 chr10 80091411 80091867 - AL356095.2 TEC 0 6 2 5 7 3 4 2 9 ENSG00000279400 chr5 36667717 36669958 + AC008957.3 TEC 0 1 0 0 0 0 4 0 0 ENSG00000279401 chr1 185518651 185520986 + AL133383.2 TEC 0 0 2 0 1 2 0 0 1 ENSG00000279403 chr6 94397664 94398829 + AL078595.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279404 chr19 20926777 20928714 - AC008739.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279405 chr19 56480397 56483977 - AC004696.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279406 chr10 71364243 71366374 + AL359183.1 TEC 1 0 0 6 1 0 0 0 2 ENSG00000279407 chr19 45714387 45717381 - AC007191.1 TEC 23 12 40 18 15 31 13 9 18 ENSG00000279408 chr15 21651844 21652968 + AC135068.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000279409 chr15 40258501 40260370 + AC020658.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279410 chr16 17192863 17194232 - AC099494.1 TEC 1 1 3 1 4 0 2 1 3 ENSG00000279411 chr12 58103907 58105935 + AC090643.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279412 chr16 70713987 70716890 + AC020763.3 TEC 2 12 10 8 1 2 10 1 5 ENSG00000279413 chrX 15702602 15703243 - AC112497.1 pseudogene 102 100 126 79 77 104 113 54 69 ENSG00000279414 chr21 9026821 9027329 - CR392039.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279415 chr16 17227023 17228000 - AC099494.2 TEC 8 4 15 3 6 17 3 7 4 ENSG00000279416 chr18 79085134 79086435 + AC099689.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279417 chr15 30344307 30348236 - AC019322.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279418 chr7 156540491 156541103 + LINC00244 lincRNA 64433 0 0 0 0 0 0 0 0 0 ENSG00000279419 chr7 124742312 124745017 - AC004925.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279420 chr16 74053365 74053965 + AC138627.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279421 chr15 78599892 78600013 - AC067863.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279422 chrX 49165576 49165972 - AC231657.1 TEC 1 0 3 2 2 0 4 1 4 ENSG00000279423 chr14 34541044 34541714 + AL445363.3 TEC 0 0 1 0 0 1 1 2 0 ENSG00000279425 chr19 24078481 24080669 + AC092279.2 TEC 4 2 4 2 0 12 6 3 17 ENSG00000279426 chr19 8695721 8696321 - AC243312.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279427 chr16 52436772 52437474 - AC007490.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279428 chr17 18107334 18110463 - AC087164.2 TEC 5 8 8 14 5 16 16 19 12 ENSG00000279429 chr7 27412164 27412891 + AC004009.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279430 chr1 159910094 159910554 - AL590560.2 TEC 31 63 54 86 201 203 89 136 171 ENSG00000279431 chr17 30551193 30551802 + AC011840.5 TEC 1 0 0 0 0 0 0 0 0 ENSG00000279432 chr17 2639297 2642418 + AC015799.1 TEC 61 86 55 82 80 84 71 50 86 ENSG00000279433 chr18 77108284 77110537 - AC018529.3 TEC 37 51 62 53 98 73 90 87 85 ENSG00000279434 chr14 35086035 35088059 + AL049776.1 TEC 112 81 99 146 175 158 146 133 127 ENSG00000279437 chrX 83506023 83509214 - Z82170.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279438 chr11 91093875 91094260 - AP001002.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279439 chr18 25200976 25202837 - AC105114.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279440 chr22 27019369 27024550 + AL008638.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279441 chr16 678645 679061 + Z92544.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279442 chr22 15298378 15304556 - AP000542.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279443 chr1 28544460 28546542 + AL513497.1 TEC 1 0 0 3 4 0 1 8 9 ENSG00000279444 chr12 63151065 63154006 + AC135584.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279445 chr15 21683038 21683962 + AC135068.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279446 chr5 127073587 127075604 + AC005915.1 TEC 0 0 0 0 0 0 0 2 0 ENSG00000279447 chr20 23071547 23072722 - AL118508.4 TEC 27 129 91 27 232 78 34 184 78 ENSG00000279450 chr5 10556582 10556815 + AC112200.1 TEC 0 0 0 0 1 0 10 0 5 ENSG00000279452 chr19 2949035 2950644 + AC006277.1 TEC 0 3 3 5 3 10 4 5 5 ENSG00000279453 chr6 122436789 122439223 - Z99129.4 TEC 85 108 79 52 62 86 33 63 81 ENSG00000279454 chr11 93587703 93588559 + AP003499.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279455 chr12 131620178 131620765 - AC117500.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279456 chr9 41061290 41062917 + AL353763.1 TEC 2 5 1 1 1 1 2 1 0 ENSG00000279457 chr1 185217 195411 - FO538757.1 unprocessed_pseudogene 102723897 64 63 63 112 135 80 136 103 13 ENSG00000279458 chr10 46370759 46382626 + AC244230.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000279459 chr11 70603304 70604859 + AP001271.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279460 chr4 184984277 184988127 - AC112243.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279461 chr14 74003396 74003470 + AC005480.2 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000279462 chr12 125300936 125301917 + AC093028.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279463 chr13 73844683 73845130 - AL159972.1 sense_intronic 1 0 0 0 2 0 0 0 0 ENSG00000279464 chr4 67607856 67610313 - AC096720.2 TEC 3 4 0 0 0 0 0 1 0 ENSG00000279465 chr3 15731877 15732536 + AC090950.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279466 chr12 133073516 133073983 - AC073911.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279467 chr22 23865248 23873277 - AP000350.7 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279469 chr5 134394360 134395008 - AC109454.4 TEC 3 8 3 4 22 18 20 16 7 ENSG00000279470 chr5 51963992 51964445 + AC091903.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279472 chr5 141177849 141182369 + AC244517.8 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000279474 chr18 79144752 79146918 + AC125437.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279475 chr12 127825938 127826286 - AC087894.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279476 chr16 81517824 81520617 + AC092139.3 TEC 5 14 10 5 0 5 4 6 14 ENSG00000279477 chr21 7003248 7007022 - CU634019.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279478 chr12 130383364 130383890 + AC127071.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279479 chr18 6727053 6728981 + AP005205.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279480 chr12 132200436 132201287 + AC138466.4 TEC 0 0 0 0 0 0 4 0 0 ENSG00000279481 chr4 145830456 145832980 - AC104791.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279482 chr7 103161947 103162660 - AC007683.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279483 chr7 137513859 137513933 + AC090498.1 processed_pseudogene 12 10 1 4 5 0 2 5 4 ENSG00000279484 chr2 238152889 238155994 - KLHL30-AS1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279485 chr2 63517892 63519268 - AC016734.2 TEC 0 0 0 0 0 0 2 0 0 ENSG00000279486 chr11 6783020 6791558 + OR2AG1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. 144125 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279488 chr19 1372238 1374364 - AC004623.1 TEC 5 9 11 4 10 9 12 1 8 ENSG00000279489 chr9 35001913 35003663 + AL355377.2 TEC 8 10 5 15 29 20 11 6 20 ENSG00000279490 chr16 17082295 17085049 - AC109446.4 TEC 0 0 0 0 0 0 2 2 0 ENSG00000279491 chr11 61967794 61969490 + AP003733.4 TEC 399900 87 155 207 331 429 489 426 363 471 ENSG00000279493 chr21 5011799 5017145 + FP565260.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000279494 chr22 49851425 49853364 + AL117328.2 lincRNA 0 0 0 0 0 9 0 0 0 ENSG00000279495 chr14 105370418 105372918 + AL928654.4 TEC 1 2 2 1 1 0 0 0 5 ENSG00000279497 chr11 132771623 132773371 - AP003784.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279498 chr6 108359084 108359863 - AL356121.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279499 chr13 30196443 30196881 - AL157770.1 TEC 0 0 2 0 0 0 0 0 0 ENSG00000279500 chr12 128813186 128814750 - AC108704.2 TEC 276 324 236 33 51 30 46 36 19 ENSG00000279501 chr21 8996496 9018670 - CR392039.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279502 chr10 72756398 72757016 + AC016542.2 TEC 0 1 0 1 0 3 0 1 4 ENSG00000279503 chr9 90158028 90158646 + AL353649.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279504 chr19 36114362 36115146 + AD001527.2 TEC 4 6 3 4 3 12 5 2 4 ENSG00000279505 chr12 67753701 67753817 + AC022513.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279507 chr3 128914833 128915060 - AC112484.4 TEC 4 3 3 4 3 0 0 2 5 ENSG00000279509 chr16 47218026 47218768 + AC007494.3 TEC 2 0 1 0 0 4 0 4 1 ENSG00000279511 chr13 37142967 37146718 - AL356274.2 TEC 43 21 35 13 37 36 39 18 22 ENSG00000279512 chr2 133117004 133119052 + AC011755.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279513 chr1 117493515 117495006 + AL157902.2 TEC 1 0 2 2 7 2 0 3 0 ENSG00000279514 chr11 55572128 55573060 + OR4C16 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 219428 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279516 chr13 18195297 18232024 + FAM230C lincRNA 26080 0 0 0 0 0 0 0 0 0 ENSG00000279518 chr8 134783694 134785879 - AC083843.3 TEC 0 1 1 6 0 1 5 0 4 ENSG00000279519 chr2 36839922 36842539 - AC007382.1 TEC 25 43 18 13 53 47 13 21 13 ENSG00000279520 chr16 2516658 2517999 + AC093525.8 TEC 64 159 94 4919 8634 5124 4691 4737 4040 ENSG00000279521 chr14 25820366 25822741 + AL359396.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279523 chr16 56108980 56109970 + AC040168.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279525 chr7 95542145 95544542 + AC002451.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279526 chr2 23616499 23617987 - AC011239.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279527 chr12 124529722 124530228 - AC073592.7 TEC 0 0 1 0 0 0 0 0 1 ENSG00000279528 chrX 48580741 48581165 + AC115618.3 TEC 9 10 24 27 17 22 32 2 13 ENSG00000279529 chr19 16572624 16575340 + AC008764.8 antisense 46 62 40 53 86 113 54 57 43 ENSG00000279530 chr12 70321542 70324274 - AC092881.1 TEC 27 28 48 15 26 14 18 15 22 ENSG00000279531 chr5 25425412 25425599 - AC022140.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279532 chr17 28373673 28374301 - AC002094.5 TEC 2 1 0 0 2 0 0 0 0 ENSG00000279534 chr21 25371827 25372043 + AP001340.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279536 chr7 149881477 149882105 + AC093458.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279537 chr15 40244925 40247366 + AC020658.7 TEC 0 0 0 5 0 0 0 0 0 ENSG00000279539 chr19 42242775 42244973 + AC006486.2 TEC 5 5 2 3 12 2 2 3 7 ENSG00000279541 chr19 57293083 57294469 - AC005261.5 TEC 33 38 47 21 27 45 7 20 31 ENSG00000279542 chr17 10821901 10822243 - AC015908.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279543 chr18 37473330 37473977 - AC129908.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279544 chr2 32563328 32566436 + AL133243.4 TEC 6 7 1 10 8 14 2 7 5 ENSG00000279548 chr22 25022594 25024652 - AL022323.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279549 chr11 61143380 61145464 - AP000437.1 TEC 10 7 9 11 24 15 23 19 17 ENSG00000279550 chr13 25190063 25190317 - AL359757.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279551 chr12 69660034 69661429 - AC025263.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279554 chr16 24208105 24208478 + AC130448.2 TEC 24 32 38 19 45 14 22 22 10 ENSG00000279555 chr17 57277920 57280017 + AC091181.1 TEC 0 0 1 3 0 6 0 0 2 ENSG00000279557 chr5 43586367 43587543 - AC010435.1 TEC 0 0 1 0 0 0 0 0 0 ENSG00000279558 chr5 141078076 141084481 + AC244517.9 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279559 chr2 180801227 180801533 + AC104820.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279561 chr9 41269916 41273997 - AL845472.2 TEC 100132249 2 1 2 7 3 1 5 0 2 ENSG00000279562 chr17 2117626 2117772 + AC090617.8 TEC 0 0 1 0 0 0 0 0 0 ENSG00000279565 chr6 88172261 88175762 + AL121835.2 TEC 2 1 0 1 8 0 1 6 0 ENSG00000279567 chr17 15365323 15365877 + AC005703.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279568 chr16 2575628 2577373 - AC093525.9 TEC 56 74 64 36 66 34 39 36 72 ENSG00000279569 chr16 70661667 70665836 + AC020763.4 TEC 10 16 17 10 9 5 13 6 15 ENSG00000279570 chr17 78691266 78691979 - AC099804.1 TEC 11 5 13 8 12 4 13 2 6 ENSG00000279571 chr9 127690098 127690840 - AL162426.1 lincRNA 0 0 0 2 0 0 0 0 0 ENSG00000279572 chr17 77571418 77572516 + AC021683.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279573 chr17 67955314 67957291 + AC134407.2 TEC 1 3 0 11 0 6 0 2 10 ENSG00000279575 chr10 10394670 10395737 + AL583859.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279578 chr7 48847766 48851625 + AC004899.2 TEC 0 0 0 3 0 0 0 0 0 ENSG00000279579 chr21 8759077 8761335 + LINC01666 lincRNA 101930100 0 0 0 0 0 0 0 0 0 ENSG00000279581 chr12 130980667 130981367 - AC073862.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279583 chr16 29595130 29596137 - AC009086.3 TEC 7 5 6 4 6 30 3 2 5 ENSG00000279584 chr5 131797415 131797929 + AC005593.1 TEC 0 2 4 93 69 85 51 31 48 ENSG00000279585 chrX 145797375 145798439 + AL109653.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279586 chr11 117611101 117612017 - AP000711.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279587 chrX 117894632 117895683 - AC006963.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279588 chr15 100782417 100786189 - AC087762.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279589 chr16 53310797 53311989 + AC079416.2 TEC 0 4 6 0 10 7 0 1 2 ENSG00000279590 chr19 3567278 3567959 - AC005786.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279591 chr16 73015047 73016016 - AC002044.2 TEC 0 0 0 0 0 5 0 0 0 ENSG00000279592 chr16 71859680 71860676 + AC010653.2 TEC 12 26 21 24 20 13 22 12 18 ENSG00000279593 chr14 93895762 93897759 + AL132642.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279594 chr14 75011269 75012851 - AL049780.3 TEC 0 0 0 6 2 3 0 0 7 ENSG00000279595 chr15 21148334 21152970 + AC126335.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279597 chr22 49534062 49534926 + AL031593.1 lincRNA 0 2 2 0 1 0 0 0 0 ENSG00000279598 chr2 178554561 178558966 + AC009948.5 TEC 16 9 17 4 11 14 23 5 16 ENSG00000279599 chr19 3371395 3371602 + AC005514.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279600 chr17 78008421 78008855 + AC015804.1 TEC 1 0 5 0 0 0 1 0 1 ENSG00000279601 chrX 119693568 119696059 + AC005052.1 TEC 1 6 1 3 3 8 11 7 7 ENSG00000279602 chr17 43360041 43361361 - AC109326.1 TEC 3 0 2 27 12 33 10 5 13 ENSG00000279603 chr11 89300709 89301477 - AP000720.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279604 chr16 86035627 86036419 + AC092723.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279605 chr8 143578358 143583304 + AC067930.6 TEC 74 21 547 25 113 22 27 110 120 ENSG00000279606 chr17 56471142 56473647 + AC006600.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279607 chr10 93071972 93073466 + AL358613.2 lincRNA 0 0 0 0 2 0 0 0 0 ENSG00000279608 chr9 35038625 35044326 - AL353795.3 TEC 16 28 34 31 60 44 55 41 42 ENSG00000279609 chr9 105656369 105657989 + AL158070.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279610 chr20 63843436 63843915 - C20orf181 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279611 chr19 58350795 58351720 + AC012313.10 TEC 0 0 0 0 0 0 0 3 0 ENSG00000279613 chr17 82648849 82650657 + AC124283.5 TEC 0 3 2 1 1 0 3 1 0 ENSG00000279615 chr21 8680538 8680934 - CR381572.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279616 chr6 87356831 87358605 + AL096817.1 TEC 0 0 0 0 1 0 0 0 1 ENSG00000279617 chr19 17871273 17871705 - AC005796.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279619 chr19 35137645 35139580 - AC020907.5 TEC 0 0 0 0 0 0 2 0 0 ENSG00000279620 chr16 17249674 17251395 - AC099494.3 TEC 6 5 7 3 9 11 9 8 16 ENSG00000279621 chr16 68199841 68200981 - AC020978.8 TEC 1 5 5 5 25 4 4 11 13 ENSG00000279622 chr16 84917377 84924808 - AC025280.2 antisense 3 6 3 15 17 6 17 6 4 ENSG00000279623 chr10 21865335 21865921 - AL359697.1 sense_intronic 0 0 2 8 0 0 2 0 0 ENSG00000279625 chr1 22364630 22366482 - AL591122.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279626 chr10 133664429 133665106 + DUX4L28 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279628 chr15 20658900 20664970 + AC131280.1 TEC 0 0 0 1 0 0 0 0 0 ENSG00000279629 chr18 48661840 48662635 - AC048380.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279630 chr12 109020833 109021240 - AC190387.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279631 chr10 22252072 22254589 + AL158211.5 TEC 4 8 10 9 6 1 9 4 5 ENSG00000279632 chr11 61426448 61427325 - AP003108.4 TEC 12 10 5 19 19 15 14 11 22 ENSG00000279633 chr14 61801713 61803634 + AL137918.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279635 chr5 8980404 8980659 - AC091895.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279636 chr14 58288033 58289158 + LINC00216 lincRNA 55451 29 30 31 18 27 32 43 31 48 ENSG00000279637 chr18 79420836 79422780 + AC018445.3 TEC 2 2 4 3 2 10 11 8 5 ENSG00000279638 chr5 54286194 54286331 - AC008873.1 TEC 2 0 0 0 0 0 0 1 0 ENSG00000279639 chr15 21574225 21575207 - AC135068.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279640 chr12 132100013 132100820 - AC138466.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279641 chr17 7242200 7243814 + AC120057.3 TEC 2243 2316 2768 1328 2185 1745 1452 2054 1659 ENSG00000279642 chr22 44486295 44486914 - AL023973.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279645 chr15 96285068 96289265 - AC016251.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279647 chr21 7385058 7388799 - CU633904.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279648 chr21 17705408 17707455 + AP000432.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279649 chr16 68290087 68292790 - AC020978.9 TEC 39 27 51 45 24 60 14 22 23 ENSG00000279650 chr12 130775694 130776546 - AC073912.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279652 chr22 35992321 36000469 + Z82217.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279653 chr19 2002580 2003581 - AC004678.2 TEC 2 1 1 2 2 0 3 1 0 ENSG00000279655 chr7 27380562 27381206 + AC004009.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279656 chr14 23023083 23024217 - AL132780.4 TEC 0 1 0 0 3 7 5 0 3 ENSG00000279657 chr13 60730176 60733600 + AL161901.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279658 chr3 97836986 97874691 - AC110491.2 antisense 0 1 0 2 0 3 4 2 0 ENSG00000279659 chr6 79573877 79575530 + AL451064.2 TEC 0 0 0 2 0 0 0 0 0 ENSG00000279660 chr17 15260513 15261841 + AC005703.6 TEC 0 0 3 0 0 0 0 0 0 ENSG00000279662 chr16 10445309 10449747 - AC131649.2 TEC 0 0 2 1 0 4 1 0 2 ENSG00000279663 chr2 16541690 16545695 - AC104623.2 TEC 0 2 1 3 2 3 0 1 5 ENSG00000279665 chr15 50742702 50743276 - AC012100.3 TEC 0 3 2 2 0 0 2 1 0 ENSG00000279666 chr16 35903117 35904916 + AC116553.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279667 chr1 40473055 40474059 + AL603839.4 TEC 0 0 0 8 9 0 2 1 1 ENSG00000279668 chr17 33827728 34079100 - AC024610.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279669 chr21 5232668 5243833 - AC079801.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279670 chr9 21892188 21893857 + AL359922.3 TEC 0 0 0 1 0 0 5 0 0 ENSG00000279671 chr5 25349841 25350073 + AC106754.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279672 chr11 779617 780755 + AP006621.5 TEC 4 18 18 5 13 12 10 8 7 ENSG00000279673 chr3 171460612 171462256 + AC092919.2 TEC 0 2 1 1 0 2 0 1 0 ENSG00000279674 chr17 34000789 34006772 - AC123769.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279675 chr11 40107244 40112599 - AC080100.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279676 chr19 50962197 50962781 - AC011483.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279677 chr13 51921251 51921587 + AL162377.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279678 chr18 37305295 37306333 - AC090386.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279679 chr5 143375628 143375883 - AC091925.2 TEC 3 1 4 0 1 16 0 1 7 ENSG00000279681 chr16 81617038 81617543 - AC092135.2 TEC 0 0 0 0 0 3 0 0 0 ENSG00000279682 chrX 7489659 7491199 + AC120338.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279683 chr15 56795382 56795522 + AC090517.3 TEC 0 0 0 0 0 0 1 0 0 ENSG00000279684 chr11 93286629 93288903 - AP003969.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279685 chr17 45895783 45898798 + MAPT-IT1 sense_intronic 100130148 0 0 0 0 0 0 0 0 0 ENSG00000279686 chr5 139442316 139462707 - AC142391.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000279687 chr21 5073458 5087867 + FP565260.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279688 chr9 65878766 65894790 + AQP7P3 unprocessed_pseudogene 112267859 0 0 0 0 0 0 0 0 0 ENSG00000279689 chr10 73769264 73772862 - AC022400.8 TEC 575 728 687 452 587 404 392 422 468 ENSG00000279690 chr21 32790673 32791504 - AP000280.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279691 chr5 133052769 133052971 + AC113410.3 TEC 4 4 3 11 41 49 23 21 11 ENSG00000279692 chr17 81395609 81397144 - AC110285.7 TEC 0 0 1 0 0 0 0 0 0 ENSG00000279693 chr16 68367325 68370262 - AC099521.2 TEC 6 22 46 0 0 1 0 2 0 ENSG00000279694 chr15 78339208 78341757 - AC011270.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279695 chr13 25141536 25141809 + AL359757.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279696 chr11 93726654 93729805 - AP001273.1 TEC 71 103 57 78 144 139 71 108 58 ENSG00000279697 chr11 89545128 89545744 + AP003400.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279698 chr5 9498401 9498775 - AC027335.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279699 chr22 30275215 30276951 - AC004264.2 TEC 4 4 5 9 16 26 13 6 1 ENSG00000279700 chr12 132565071 132566425 + AC131212.2 TEC 29 23 18 7 10 16 24 7 14 ENSG00000279701 chr11 87490144 87491110 + AP003497.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279702 chr13 102299790 102300272 - AL356266.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279703 chr4 157818101 157818572 - AC017037.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279704 chr12 132351855 132352322 + AC148477.8 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279705 chr15 80014157 80015707 + AC092701.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279706 chr9 68250469 68251656 - AL353608.4 TEC 0 0 0 0 1 1 2 0 0 ENSG00000279707 chr18 47866839 47867367 + AC120349.3 TEC 0 1 2 2 3 0 4 0 0 ENSG00000279708 chr15 89358841 89360377 + AC133637.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279709 chr21 6309161 6312948 + CU633906.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279711 chr11 133064697 133068129 + AP004782.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279712 chr22 47916728 47926264 + FP325330.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279713 chr17 62679403 62681354 - AC080038.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279714 chr22 36091148 36093352 + Z95114.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279715 chr9 79913269 79915736 + AL161912.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279716 chr19 15398696 15400356 + AC006128.1 TEC 166 138 154 86 148 144 114 105 88 ENSG00000279717 chr19 15904556 15907234 + AC005336.3 TEC 0 0 0 0 0 0 0 2 2 ENSG00000279718 chr21 9364467 9365225 - SNX18P12 processed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000279719 chr15 79989905 79990606 + AC015871.5 TEC 0 1 0 45 8 26 51 28 28 ENSG00000279720 chr21 9082601 9083101 - CR392039.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279721 chr2 121688203 121689714 + AC018737.2 TEC 0 2 0 0 0 0 0 2 0 ENSG00000279722 chr16 53487607 53489943 - AC007342.7 TEC 11 10 31 10 25 43 27 10 38 ENSG00000279724 chr7 102188599 102188828 - AC005086.2 pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000279725 chr10 127734562 127736996 - AL391005.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279726 chr5 140788457 140822193 - AC005609.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279727 chr3 36819276 36822498 - LINC02033 lincRNA 105377031 5 19 4 25 52 22 16 26 33 ENSG00000279728 chr21 6712596 6716361 + CU638689.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279729 chr16 16760905 16762465 + AC092326.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279730 chr13 18297554 18298733 + SETD8P1 processed_pseudogene 2 8 7 3 0 9 2 4 3 ENSG00000279732 chr16 78981722 78981843 - AC027279.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279733 chr11 88165575 88167691 - AP001642.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279734 chr18 30780006 30780424 + AC090506.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279735 chr15 25091960 25092377 - AC124312.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279737 chr5 35895689 35896020 - AC112204.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279738 chr22 37876148 37895563 + AL022311.1 sense_overlapping 10 11 11 40 93 48 34 22 20 ENSG00000279739 chr5 168128856 168130422 + AC011369.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279741 chr16 53389886 53390563 + AC007342.8 TEC 57 70 65 19 39 67 38 33 37 ENSG00000279742 chr11 85852557 85854943 - AP000974.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279743 chr17 51761260 51763397 - AC002090.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279744 chr17 82462601 82464255 + AC132938.5 TEC 49 78 58 11 46 41 21 22 22 ENSG00000279746 chr12 131295522 131298218 + AC092850.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279747 chr16 19503861 19504625 + AC130456.6 TEC 4 0 2 0 0 0 2 0 0 ENSG00000279748 chr19 16586905 16589409 + AC008764.9 TEC 4 7 5 10 26 19 8 12 6 ENSG00000279749 chr4 136553236 136553739 + AC093875.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279750 chrX 52053176 52055684 + AC239585.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279751 chr21 6904884 6906692 + FP475955.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279752 chr5 169012148 169013146 - AC011389.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279753 chr19 1038727 1039064 - AC011558.1 TEC 946 953 1110 489 1000 785 605 804 805 ENSG00000279754 chr13 73399031 73399205 + AL162376.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279755 chr5 10064243 10064476 - AC091905.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279756 chr16 23753689 23755939 - AC012317.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279757 chr16 72973374 72973832 - AC132068.1 TEC 0 0 0 1 0 0 0 0 0 ENSG00000279758 chr15 82738386 82739122 + AC105339.5 TEC 0 0 3 0 0 0 0 2 0 ENSG00000279759 chr19 40355842 40360606 + AC118344.2 TEC 5 18 12 8 11 4 11 1 1 ENSG00000279761 chr11 55773438 55774382 + OR5D13 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 390142 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279762 chr17 32423971 32446038 - AC005899.8 antisense 25 22 34 12 9 25 24 10 16 ENSG00000279764 chr16 56306845 56308335 + AC009102.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279765 chr15 92883413 92949230 + AC013394.1 protein_coding 49 87 83 122 162 104 83 83 111 ENSG00000279766 chr8 140572142 140572812 - AC067931.1 TEC 15 4 7 10 10 15 16 8 15 ENSG00000279769 chr21 6034690 6036093 + CU639417.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279770 chr13 113748511 113751089 - LINC00552 TEC 100130386 0 0 0 0 0 0 0 0 0 ENSG00000279771 chr11 115659168 115661417 + AP000997.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279772 chr5 123508736 123509187 - AC026422.1 TEC 0 0 0 1 0 0 0 0 0 ENSG00000279773 chr21 13679300 13681138 - AL050303.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279774 chr1 244064330 244067909 + AL590483.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279775 chr17 40597113 40598585 - AC004585.2 TEC 0 0 1 0 0 0 0 0 0 ENSG00000279778 chr1 87805286 87808372 - AL445437.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279779 chr16 52081568 52082096 - AC009039.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279780 chr16 32786394 32787379 + AC138907.9 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279781 chr17 32518322 32518934 - AC079336.6 TEC 0 0 1 0 0 0 0 0 0 ENSG00000279782 chr1 144592868 144593527 + PPIAL4F protein_coding 728945 GO:0043231, GO:0005737, intracellular membrane-bounded organelle, cytoplasm, GO:0016018, GO:0003755, cyclosporin A binding, peptidyl-prolyl cis-trans isomerase activity, GO:0006457, GO:0000413, protein folding, protein peptidyl-prolyl isomerization, 0 0 0 0 0 0 0 0 0 ENSG00000279783 chr21 9810501 9810848 + AC018692.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279784 chr21 5705345 5707160 + FP236315.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279785 chr7 66474556 66475749 + AC008267.7 TEC 1 0 3 4 5 12 2 0 6 ENSG00000279786 chr8 140820599 140822414 - AC105235.1 TEC 1 0 0 0 0 0 0 0 0 ENSG00000279788 chr21 6676178 6679962 - CU638689.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279789 chr16 29913144 29915337 - AC120114.3 TEC 18 27 32 30 47 53 54 40 64 ENSG00000279790 chr6 73971346 73973115 + AL590552.1 TEC 0 0 0 3 0 0 0 0 0 ENSG00000279791 chr2 97094935 97097433 + AC018892.3 TEC 0 0 1 1 0 0 0 0 0 ENSG00000279792 chr17 50362967 50365232 - AC015909.5 TEC 2 0 3 2 0 4 3 1 0 ENSG00000279793 chr11 87816999 87817567 + AP000676.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279794 chr19 56149817 56150490 + AC024580.1 TEC 2 2 2 0 0 0 2 1 0 ENSG00000279795 chr16 32787962 32788944 + AC138907.10 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279796 chr10 114424445 114427398 - AL133384.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279797 chr13 61424689 61427946 - LINC02339 lincRNA 101926951 0 0 0 0 0 0 0 0 0 ENSG00000279798 chr12 97563257 97563971 - AC018659.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279799 chr5 134905235 134905691 + AC006077.2 TEC 3 3 1 4 2 0 2 2 9 ENSG00000279800 chr16 34266041 34268649 - BCLAF1P2 processed_pseudogene 25 45 39 22 37 25 29 22 29 ENSG00000279801 chr17 77444704 77447167 + AC111170.3 TEC 1 5 6 6 1 13 15 2 2 ENSG00000279803 chr16 57142652 57144936 + AC009090.5 TEC 13 13 19 32 46 6 44 16 26 ENSG00000279804 chr1 13222705 13226106 - PRAMEF18 protein_coding 391003 0 0 0 0 0 0 0 0 0 ENSG00000279805 chr22 36137430 36139350 - Z95114.3 TEC 2 6 0 4 1 4 7 1 5 ENSG00000279806 chr17 40473554 40475289 - AC018629.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279807 chr19 11208195 11208702 + AC011472.5 TEC 0 0 0 0 0 0 0 1 2 ENSG00000279809 chr2 233865496 233867359 - AC005538.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279810 chr6 169033381 169034050 + AL109924.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279811 chr18 77002849 77006846 - AC093330.2 TEC 30 38 15 30 67 83 33 52 48 ENSG00000279812 chr17 7192295 7192448 - AC120057.4 TEC 0 1 0 0 0 0 0 0 0 ENSG00000279813 chr9 136249978 136251205 + CR392000.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279814 chr10 75450081 75451725 + AC010997.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279815 chr16 70768356 70768785 + AC020763.5 TEC 1 0 0 2 0 0 4 0 5 ENSG00000279817 chr12 133077762 133078392 - AC073911.3 TEC 0 0 0 0 0 0 3 0 0 ENSG00000279818 chr11 115731942 115734742 - AP002991.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279819 chr10 22693953 22694639 - AL390318.1 TEC 1 0 0 0 0 0 2 2 0 ENSG00000279821 chr5 177476631 177479656 - AC145098.2 TEC 199 227 442 216 416 553 300 296 485 ENSG00000279822 chr10 48443836 48445820 - AC016397.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279825 chr17 19030857 19033529 + AC003957.1 TEC 3 3 5 14 1 6 1 3 2 ENSG00000279827 chr19 8444570 8445597 - AC136469.2 TEC 83 73 111 84 65 83 82 44 73 ENSG00000279829 chr18 46385707 46387083 + AC015959.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279833 chr22 39133090 39136760 + AL031846.2 antisense 460 545 536 416 637 540 455 509 526 ENSG00000279834 chr15 81060953 81063488 + AC068870.3 TEC 0 0 0 0 2 0 0 0 0 ENSG00000279835 chr20 51098138 51098845 + AL121785.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279836 chr11 87121058 87121596 + AP002967.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279837 chr11 18601882 18602649 + AC112694.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279838 chr1 185292384 185294372 - AL356273.3 TEC 34 88 92 21 48 46 45 37 37 ENSG00000279839 chr1 3205988 3208664 + AL512383.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279840 chr12 47960497 47963469 - AC004801.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279841 chr16 81630193 81632038 + AC092135.3 TEC 15 19 5 9 21 14 29 9 10 ENSG00000279842 chr16 49900019 49900524 + AC007603.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279844 chr2 160849313 160850676 - AC096656.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279845 chr4 146180851 146181316 + AC097372.3 TEC 0 2 0 0 0 0 0 0 3 ENSG00000279846 chr15 99497812 99498375 - AC015660.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279847 chr8 93134095 93166850 - C8orf87 lincRNA 389676 0 0 0 0 0 0 0 0 0 ENSG00000279848 chr22 27044001 27045315 + AL008638.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279851 chr21 10122273 10129029 + CR382287.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279852 chr8 486117 488512 - AC083964.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279853 chr7 44367140 44369292 - AC004453.2 TEC 0 1 0 4 3 6 7 1 7 ENSG00000279855 chr5 141427295 141427752 - AC005618.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279856 chr16 77104260 77105297 + AC106733.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279858 chr8 19375128 19375622 - AC068880.4 TEC 2 4 0 1 6 1 3 4 0 ENSG00000279859 chr4 6691995 6692970 - AC093323.2 TEC 2 1 2 7 2 2 2 3 0 ENSG00000279860 chr5 121363002 121365314 + AC008568.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279861 chr19 47487638 47489519 - AC073548.1 TEC 442 640 447 2448 1922 1862 2348 1354 1278 ENSG00000279862 chr3 172301654 172303052 - AC092964.1 TEC 9 6 10 14 19 33 11 13 14 ENSG00000279863 chr10 50334538 50336123 + AC069547.1 TEC 8 13 11 4 8 21 6 4 3 ENSG00000279864 chr21 9558970 9559155 + AC124864.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279865 chr12 8080381 8082163 - AC006511.3 TEC 7 6 14 6 18 26 19 7 22 ENSG00000279869 chr5 25716271 25716715 + AC022418.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279872 chr17 2424179 2424412 - AC006435.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279873 chr2 43227210 43228855 + LINC01126 lincRNA 100129726 26 22 34 22 25 8 16 21 7 ENSG00000279874 chr2 123850522 123850695 - AC064859.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279875 chr12 48189349 48191207 + AC074029.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279876 chr2 145874520 145874845 - AC079248.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279878 chr11 61525708 61526602 - AP003108.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279879 chr17 44689858 44693340 + AC091152.4 TEC 0 0 0 0 4 2 2 0 0 ENSG00000279880 chr17 67973934 67976072 + AC134407.3 TEC 3 3 2 4 10 5 8 2 2 ENSG00000279881 chr8 48428143 48431041 - AC041040.1 TEC 0 0 0 1 0 0 0 0 0 ENSG00000279882 chr19 27639300 27639665 - AC112702.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279883 chr5 55484403 55485086 + AC010480.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279884 chr2 174545385 174546335 - AC010894.5 TEC 28 39 31 49 97 82 38 73 36 ENSG00000279885 chr18 6394847 6398020 - AP005060.1 TEC 0 0 0 1 0 0 0 0 0 ENSG00000279886 chr17 78250346 78250932 - AC087645.3 TEC 0 0 0 3 0 0 0 0 0 ENSG00000279887 chr16 78525189 78526535 - AC046158.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279889 chr16 58705799 58706297 - AC012183.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279891 chr3 188178543 188180812 + FLJ42393 TEC 401105 4 7 12 18 18 15 3 8 4 ENSG00000279894 chrX 103596608 103598904 + Z73965.1 TEC 0 0 0 0 3 0 0 0 0 ENSG00000279895 chr21 7421442 7425839 - CU633904.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279897 chr2 32557273 32574818 - BIRC6-AS2 transcribed_unprocessed_pseudogene 103752586 3 11 3 3 11 14 10 4 5 ENSG00000279900 chr11 83083687 83084138 + AP001767.4 TEC 0 0 1 0 0 1 0 0 0 ENSG00000279901 chr16 2683106 2684764 + AC092117.2 TEC 1 1 2 13 9 5 2 1 1 ENSG00000279903 chr8 17500012 17500605 + AP006248.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279904 chr2 104706612 104707506 + AC068057.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279905 chr12 130425004 130430661 + AC063926.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279907 chr16 85859521 85862012 + AC018695.7 TEC 0 0 0 0 0 0 0 1 0 ENSG00000279908 chr5 1383159 1386409 - AC026748.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279910 chr10 85526880 85531115 - AL731532.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279912 chr15 32182551 32186475 + AC068448.1 TEC 0 0 0 0 0 0 0 0 1 ENSG00000279913 chr4 99844138 99844696 + AP001962.1 TEC 11 7 21 5 16 19 16 12 20 ENSG00000279914 chr22 27040197 27041494 + AL008638.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279917 chr17 67611277 67613822 + AC079331.2 TEC 0 3 1 5 3 0 2 2 2 ENSG00000279918 chr4 19098199 19098740 + AC006840.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279919 chr8 19277284 19277573 + AC068880.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279920 chr22 21354563 21355763 + LINC01651 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000279923 chr5 31558573 31559875 + AC022417.1 TEC 0 1 1 4 2 3 0 2 3 ENSG00000279924 chr13 18174010 18178465 - AL356585.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279925 chr12 110744549 110746206 + AC144522.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279926 chr6 3982673 3984130 + AL138831.3 TEC 0 3 0 3 1 0 0 0 2 ENSG00000279927 chr22 36066533 36070110 + Z95114.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279928 chr1 182696 184174 + FO538757.2 unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000279929 chr9 134298463 134300413 + AL354796.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279930 chr16 1437154 1439315 + AL032819.2 TEC 8 8 0 12 5 2 4 10 6 ENSG00000279931 chr12 124725524 124725934 + AC073593.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279932 chr8 17510613 17511300 + AP006248.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000279933 chr22 44183031 44187739 - AL031595.1 TEC 1019 1288 1359 854 1412 1105 872 1126 910 ENSG00000279935 chr9 134992958 134995854 + AL353611.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279936 chr19 37401404 37403846 - AC008806.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279939 chr12 89544203 89544488 - AC025034.2 TEC 1 1 0 0 0 4 2 2 0 ENSG00000279940 chr12 130956384 130958031 - AC073862.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279942 chr6 37567716 37571460 + AL353597.3 TEC 3 8 0 17 0 6 7 0 2 ENSG00000279943 chr4 186189032 186191490 - FLJ38576 TEC 651430 0 4 0 2 4 4 5 2 6 ENSG00000279945 chr15 88477871 88478387 - AC013489.3 TEC 12 13 3 4 8 1 6 14 9 ENSG00000279946 chr1 206541758 206544892 + AC244034.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279948 chr19 46946535 46949156 + AC008895.1 TEC 19 3 6 9 6 6 5 5 1 ENSG00000279949 chr8 9158063 9158621 + AC022784.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279951 chr13 20092632 20094144 + AL138688.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279952 chr12 127462507 127463197 + AC068787.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279953 chr12 123649068 123650485 + AC117503.3 TEC 1 0 1 1 0 0 0 0 0 ENSG00000279954 chr22 45875932 45879247 + BX324167.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000279955 chr9 65865190 65877274 - AC129778.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279956 chr2 48632291 48755724 - AC073082.1 protein_coding 0 0 0 0 0 0 1 0 0 ENSG00000279957 chr2 113904086 113905258 + AC110769.3 TEC 6 4 6 8 10 8 9 4 9 ENSG00000279958 chr15 33105758 33106236 - AC019278.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279959 chr19 56127236 56127466 - AC024580.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279960 chr6 132891924 132893819 + AL137783.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279961 chr11 56417258 56418232 - OR5R1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 219479 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000279962 chr18 13710249 13710484 - AP001525.1 TEC 0 0 0 1 1 0 5 3 5 ENSG00000279964 chr2 230410700 230412529 - AC009949.1 TEC 1 3 0 0 0 5 0 0 0 ENSG00000279965 chr13 110123208 110125234 + AL390755.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279966 chr19 22770375 22770622 + AC008626.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279967 chr21 8101251 8103706 - FP671120.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279968 chr6 138725211 138773652 - GVQW2 protein_coding 100507462 0 3 1 0 1 2 0 7 1 ENSG00000279970 chr15 101299656 101301648 - AC023024.2 TEC 0 0 0 0 1 0 0 0 0 ENSG00000279971 chr19 34645380 34646838 + AC020910.6 TEC 0 0 0 0 0 0 3 0 0 ENSG00000279972 chr14 41514972 41515350 - AL356596.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279973 chr22 11066418 11068174 + CU104787.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000279976 chr12 130962175 130963028 + AC073862.4 TEC 0 0 0 0 0 3 0 0 0 ENSG00000279977 chr19 16610374 16612203 - AC008764.10 TEC 1 5 0 0 1 4 2 1 0 ENSG00000279979 chr5 10675317 10675575 - AC012629.4 TEC 0 0 0 0 0 0 0 2 0 ENSG00000279980 chr15 90347587 90349437 + AC018946.2 TEC 23766 GO:0031410, GO:0005874, GO:0005829, GO:0005776, GO:0000421, cytoplasmic vesicle, microtubule, cytosol, autophagosome, autophagosome membrane, GO:0050811, GO:0031625, GABA receptor binding, ubiquitin protein ligase binding, GO:0016236, GO:0006995, GO:0000422, GO:0000045, macroautophagy, cellular response to nitrogen starvation, autophagy of mitochondrion, autophagosome assembly, 0 0 0 0 0 0 0 0 0 ENSG00000279981 chr18 79496058 79498348 + AC018445.4 TEC 0 0 1 0 2 2 0 0 0 ENSG00000279982 chr10 131996738 131999846 + AL162274.3 TEC 9 4 7 0 2 2 4 1 5 ENSG00000279983 chr5 141223372 141245861 + AC244517.10 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000279985 chr5 61114432 61116753 - AC008498.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279987 chr22 18883502 18884682 - AC008103.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000279989 chr18 35257040 35257512 + AC011815.3 TEC 4 4 6 1 2 6 8 0 5 ENSG00000279990 chr21 8603547 8603984 + RPSAP68 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000279991 chr16 78166717 78168514 - AC009044.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279993 chr12 131025561 131028060 - AC078925.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279994 chr4 157945817 157946642 - AC017037.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279995 chr5 34124162 34124385 - AC139792.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279996 chr7 75625089 75626970 - AC004491.1 TEC 10 9 10 8 10 32 11 6 26 ENSG00000279997 chr16 32185624 32186311 + AC133485.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000279998 chr21 6789592 6812297 + FP475955.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280000 chr16 6037210 6038977 + AC009135.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280002 chr12 130988312 130990028 - AC078925.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280003 chr3 52217016 52219012 - AC097637.2 TEC 28 19 19 54 59 54 60 36 30 ENSG00000280004 chr7 102186819 102187039 - AC005086.3 pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280005 chr4 154261735 154262193 + AC079298.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000280007 chr22 18110759 18131154 - AC008079.1 antisense 3 3 1 5 6 8 4 4 5 ENSG00000280009 chr5 86305233 86306149 - AC020923.1 TEC 0 0 0 0 0 0 1 0 0 ENSG00000280010 chr11 58627435 58628528 + AP001350.2 TEC 0 2 3 3 3 6 4 2 3 ENSG00000280011 chr22 44210442 44229512 - AL031595.2 antisense 16 12 10 24 36 21 26 29 20 ENSG00000280012 chr10 46063250 46063715 + RPL23AP61 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280013 chr21 6008604 6008810 + CU639417.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280014 chr19 41551568 41552274 - AC243960.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280015 chr4 38390754 38391675 + AC024023.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280016 chr5 10082571 10082772 + AC091905.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280017 chr5 10541454 10543192 + AC112200.2 TEC 2 0 1 0 2 5 0 1 1 ENSG00000280018 chr21 6986450 6997765 - CU634019.6 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000280019 chr21 6272135 6276532 - CU633906.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280020 chr17 32178946 32180074 - AC116407.3 TEC 12 9 15 15 20 46 13 11 23 ENSG00000280021 chr11 4768979 4769938 - OR51F1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 256892 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000280022 chr17 45592621 45593369 + AC126544.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280023 chr19 36070239 36071070 + AD000813.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280024 chr12 127372243 127372669 + AC048347.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280025 chr22 27102766 27107019 + AL008638.6 lincRNA 0 0 0 0 0 0 0 1 2 ENSG00000280026 chr5 141350109 141350662 - AC005618.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000280027 chr16 53391089 53392473 + AC007342.9 TEC 102 106 119 83 124 84 61 76 93 ENSG00000280028 chr17 57531769 57532355 + AC007431.3 TEC 0 0 0 0 0 0 0 1 0 ENSG00000280029 chr5 141136683 141245380 - AC244517.11 antisense 0 0 0 0 0 0 0 0 0 ENSG00000280032 chr11 118264593 118266817 + AP002800.1 TEC 0 3 0 0 0 0 6 0 0 ENSG00000280033 chr17 32159311 32160371 + AC116407.4 TEC 10 30 13 18 30 35 26 18 20 ENSG00000280035 chr8 141224288 141226947 - AC011676.5 TEC 240 242 321 160 223 262 225 180 301 ENSG00000280036 chr15 41016990 41018843 - AC020661.4 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000280037 chr2 73761269 73761781 - AC092653.2 TEC 2 1 2 1 1 0 1 0 0 ENSG00000280038 chr15 84166547 84169896 - DNM1P41 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280039 chr16 23412380 23416680 + RN7SKP23 TEC 6 5 7 8 6 11 5 2 6 ENSG00000280040 chr1 98660388 98661059 - AC095031.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280042 chr3 124791119 124793104 - AC022336.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280043 chr4 49229573 49231284 + AC118282.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280044 chr16 82727474 82727694 + AC099506.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280046 chr17 7858943 7866083 + AC104581.4 TEC 19 11 17 125 92 229 141 51 126 ENSG00000280047 chr5 142165767 142168387 + AC091825.1 TEC 16 11 13 6 3 18 5 15 9 ENSG00000280048 chr15 96112628 96116051 - AC012409.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280049 chr12 87041916 87042423 + AC079597.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280051 chr12 129262345 129262824 + AC079456.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280053 chr3 126973065 126976426 + AC011199.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280054 chr12 47728151 47730598 - AC004241.5 TEC 29 26 46 9 11 9 12 34 26 ENSG00000280055 chr8 127946559 127948723 - TMEM75 TEC 641384 GO:0016021, integral component of membrane, 0 0 0 4 0 0 0 0 1 ENSG00000280056 chr4 92260367 92260751 - AC097520.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280057 chr6 166388136 166389920 + AL022069.2 TEC 0 1 0 0 0 3 0 0 0 ENSG00000280058 chr6 131910191 131911527 + AL117378.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280059 chr4 130808507 130811933 + AC093831.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280060 chr13 43894725 43895182 - AL512506.2 TEC 0 0 1 0 0 0 0 0 0 ENSG00000280061 chr19 30553956 30558058 + AC011504.1 TEC 0 1 0 0 0 0 0 0 0 ENSG00000280062 chr16 1530715 1533301 + AL031719.1 TEC 0 0 1 0 0 0 3 0 0 ENSG00000280063 chr16 4346694 4348648 - AC012676.5 TEC 0 2 0 0 0 1 0 0 1 ENSG00000280064 chr8 37858949 37861333 + AC130304.1 TEC 2123 2601 2754 1032 2294 1594 1141 1693 1514 ENSG00000280067 chr16 48343755 48346058 - AC023818.1 TEC 19 61 32 29 81 88 61 38 33 ENSG00000280068 chr5 175903874 175904371 - AC138965.3 TEC 0 0 0 0 0 0 0 2 0 ENSG00000280069 chr17 30738182 30740275 + AC127024.8 TEC 6 13 12 2 3 9 16 6 5 ENSG00000280070 chr14 96992864 96996601 + AL049833.3 TEC 0 0 0 5 1 0 0 0 0 ENSG00000280071 chr21 5079294 5128425 - GATD3B protein_coding 102724023 GO:0005739, mitochondrion, GO:0005515, protein binding, 3 9 5 3 4 8 8 6 7 ENSG00000280073 chr14 69357010 69359308 + AL157996.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280075 chr21 9810381 9810503 - AC018692.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280076 chr15 93206066 93208048 + AC112693.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280077 chr9 41012231 41014133 + AL353763.2 TEC 22 23 28 13 30 29 33 12 38 ENSG00000280078 chr14 76279173 76283103 + AC016526.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280079 chr19 20220597 20222186 - AC011447.7 TEC 0 0 1 0 1 0 0 1 2 ENSG00000280080 chr22 46914092 46916042 - TBC1D22A-AS1 antisense 642757 17 25 15 7 13 11 11 6 16 ENSG00000280081 chr21 9781918 9814009 - LINC01667 lincRNA 441058 0 0 0 0 1 0 0 0 0 ENSG00000280082 chr21 15346652 15346738 + AF246928.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280083 chr2 191154118 191156070 - AC079777.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280085 chr11 90972316 90972521 - AP001002.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280086 chr10 11395808 11398792 + AC026887.1 TEC 0 0 0 2 0 0 0 0 0 ENSG00000280087 chr19 44909375 44914968 + AC011481.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280088 chr12 100032325 100034074 - AC126474.2 TEC 113 105 122 67 109 82 69 82 59 ENSG00000280089 chr11 70705605 70706068 - AP000590.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280090 chr11 124423904 124424893 - OR8B4 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. 283162 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000280091 chr19 6894994 6896832 - AC020895.2 TEC 52 66 100 13 14 11 16 11 8 ENSG00000280092 chr16 73005601 73006141 - AC002044.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280093 chr11 91382909 91383289 + AP002791.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280094 chr9 122628579 122629573 - OR1B1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 347169 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000280095 chr21 6081193 6082585 + CU639417.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280096 chr18 35082009 35082242 + AC015967.2 TEC 0 0 0 0 0 0 0 2 0 ENSG00000280097 chr12 124593181 124593691 - AC073592.8 TEC 0 0 0 1 0 0 0 0 0 ENSG00000280098 chr18 52409042 52409257 + AC011155.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280099 chr1 85152487 85154203 - AL603750.1 TEC 0 0 0 1 0 0 1 0 0 ENSG00000280103 chr19 3355554 3355955 - AC007792.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280104 chr5 133457805 133458331 + AC010608.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280105 chr2 161433874 161437458 + AC009487.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280106 chr19 34949038 34951205 - AC008555.8 TEC 2 0 3 1 1 1 2 2 5 ENSG00000280107 chr6 28170845 28172521 + AL022393.1 TEC 0 0 0 0 0 0 0 2 0 ENSG00000280108 chr21 13305152 13314944 + AJ239318.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280109 chr21 41175231 41186788 - PLAC4 antisense 191585 3 4 9 0 0 0 0 0 0 ENSG00000280110 chr12 108778912 108779166 + AC087893.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280113 chr1 9826289 9828271 - AL357140.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280114 chr1 16681097 16688749 - AL021920.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280115 chr16 78872739 78873505 + AC136603.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280116 chrX 49155242 49157351 - AC231657.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280117 chr12 125160525 125164918 + AC122688.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280118 chr15 24848355 24852253 + AC090983.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000280119 chr2 242001209 242006013 + AC093642.2 TEC 285097 0 0 0 0 0 0 0 0 0 ENSG00000280120 chr12 123152324 123153377 - AC073857.1 TEC 0 1 8 10 0 10 4 2 3 ENSG00000280121 chr19 18448275 18448805 - AC010335.3 TEC 13 17 12 65 64 96 47 53 48 ENSG00000280122 chr17 76966285 76969530 - AC016168.3 TEC 0 0 0 0 0 0 0 2 0 ENSG00000280123 chr8 94427712 94429888 - AC023632.6 TEC 2 4 7 11 2 5 4 0 4 ENSG00000280124 chr11 91184934 91185543 - AP003485.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280125 chr12 125808668 125809808 + AC005252.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280126 chr10 17602910 17603127 + AC069542.2 pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000280128 chr6 30282349 30286054 - AL662795.2 TEC 0 0 0 0 0 1 0 0 0 ENSG00000280129 chr14 23005499 23007123 - AL132780.5 TEC 7 5 4 6 19 7 9 12 7 ENSG00000280131 chr16 49711273 49711914 + AC027348.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280132 chr16 31470204 31472108 - AC026471.6 TEC 0 0 0 0 0 0 2 1 0 ENSG00000280134 chr10 85555484 85557436 - AL731532.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280135 chr6 107697299 107700218 - AL096816.1 TEC 43 38 38 79 75 92 80 45 49 ENSG00000280136 chr17 88641 118578 - AC240565.1 lincRNA 0 0 1 0 0 0 0 0 1 ENSG00000280137 chr16 30379763 30380110 - AC116348.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280138 chr12 122870059 122888720 - AC027290.2 TEC 694 991 720 3060 4138 3825 3580 2473 2743 ENSG00000280139 chr5 176439090 176439238 + AC010297.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280140 chr4 158111361 158111931 - AC098679.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280142 chrX 122242008 122242616 + AL357562.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280143 chr11 117204967 117210292 + AP000892.3 TEC 180 181 227 275 271 348 252 200 232 ENSG00000280144 chr7 146050062 146050366 + AC073308.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280145 chr21 6630182 6670695 - CU638689.4 lincRNA 0 0 0 0 0 0 0 0 4 ENSG00000280147 chr8 29587001 29588426 + AC084026.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280148 chr6 143857318 143938471 + AL049844.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000280149 chr7 149851572 149852170 + AC004877.2 TEC 3 2 8 6 3 22 6 6 8 ENSG00000280150 chr12 132362810 132363348 + AC148477.9 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280152 chr16 75245994 75250077 - AC009078.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280153 chr16 10933903 10936280 + AC133065.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280154 chr2 30408170 30408346 + AC073255.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280155 chr6 132130252 132131795 - AL021408.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280157 chr1 228121523 228123771 + AL359510.2 TEC 3 3 3 7 7 1 3 3 7 ENSG00000280159 chr5 54643557 54645987 + AC016583.1 TEC 21 14 10 20 16 6 12 16 8 ENSG00000280160 chr16 31093727 31095944 + AC135050.7 TEC 55 47 48 39 42 38 59 51 16 ENSG00000280161 chr5 180810401 180811384 + AC022413.1 TEC 7 2 2 7 5 9 3 1 11 ENSG00000280162 chr20 1320710 1324367 + AL136531.3 TEC 1 1 4 6 7 10 4 3 0 ENSG00000280163 chr16 67205175 67206849 - AC040160.2 TEC 8 17 6 16 18 5 12 8 9 ENSG00000280164 chr21 6721812 6725209 + CU638689.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280165 chr13 61409685 61415522 - PCDH20 protein_coding This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]. 64881 GO:0005887, integral component of plasma membrane, GO:0005509, GO:0003723, calcium ion binding, RNA binding, GO:0007156, GO:0007155, homophilic cell adhesion via plasma membrane adhesion molecules, cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000280166 chr10 72730557 72731175 + AC016542.3 TEC 1 0 0 0 0 0 0 0 0 ENSG00000280167 chr11 94559018 94559374 + AP000943.4 TEC 2 1 3 0 1 2 0 0 0 ENSG00000280168 chr17 12973033 12973834 - AC005274.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280169 chr13 100537365 100539567 + AL136526.1 antisense 1 2 0 6 0 0 2 0 0 ENSG00000280171 chr19 20674923 20696533 + AC010329.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280172 chr21 6897291 6899280 + FP475955.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280173 chr3 47346950 47349073 + AC104447.1 TEC 28 20 35 18 20 23 8 9 17 ENSG00000280176 chr2 196831975 196832190 - AC012486.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280177 chr17 39165073 39167849 + AC004408.2 TEC 0 0 0 0 0 0 0 1 0 ENSG00000280179 chr21 6084364 6091407 - CU639417.4 lincRNA 102724398 0 0 0 0 0 0 0 0 0 ENSG00000280180 chr16 35148636 35154366 + AC023824.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280181 chr12 64709458 64710513 + AC025262.2 TEC 18 11 12 9 18 16 28 18 15 ENSG00000280182 chr16 81261924 81264091 - AC131888.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280183 chr17 42598643 42599177 + AC067852.4 TEC 0 2 2 5 7 0 0 0 0 ENSG00000280184 chr6 145789270 145791973 - AL023806.3 TEC 0 2 3 3 3 3 0 0 3 ENSG00000280185 chr5 8793875 8794197 + AC091932.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280186 chr1 108200413 108202743 + AL359258.3 TEC 0 1 0 0 0 0 0 1 0 ENSG00000280187 chr5 69186359 69189452 - AC022107.1 TEC 2 0 0 7 1 0 0 2 0 ENSG00000280189 chr16 49297143 49299762 + AC007614.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280190 chr16 78890231 78892302 + AC027279.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280191 chr21 6060340 6076305 + LINC01669 lincRNA 102724354 0 0 0 0 0 0 0 0 0 ENSG00000280193 chr8 81696368 81698694 + AC132219.2 TEC 0 0 0 4 0 1 0 1 0 ENSG00000280194 chr19 35901561 35903855 - AD000864.1 TEC 186 211 343 280 319 585 325 328 523 ENSG00000280195 chrX 154396878 154398816 - AC245140.2 antisense 419 307 573 1348 578 1524 858 475 1023 ENSG00000280196 chr12 129839928 129840522 - AC055717.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280197 chr18 48252301 48252837 + C18orf12 TEC 84322 0 0 0 0 0 0 0 0 0 ENSG00000280198 chr17 18026072 18026771 - AC087163.3 TEC 0 0 0 0 3 4 0 1 0 ENSG00000280199 chr22 49264201 49266080 + Z82202.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280200 chr12 130976786 130978812 + AC073862.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280201 chr11 89576913 89577652 + AP003400.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280202 chr12 3610307 3612003 - AC005831.1 TEC 43 53 105 58 75 103 71 34 38 ENSG00000280204 chr11 58212720 58216084 + OR1S1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 219959 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000280205 chr18 76385642 76389406 - AC009716.2 TEC 7 7 5 1 20 23 8 2 13 ENSG00000280206 chr16 15701237 15702118 + AC026401.3 lincRNA 55 37 28 30 28 25 37 17 28 ENSG00000280207 chr5 177967004 177967457 + AC106795.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280208 chr13 18253526 18270822 - GGT4P unprocessed_pseudogene 0 0 0 0 0 0 3 1 0 ENSG00000280211 chr16 30773532 30776033 - AC106886.4 TEC 717 640 781 550 695 616 537 440 500 ENSG00000280212 chr18 47076117 47076594 + AC012254.5 TEC 0 0 1 0 0 0 3 0 2 ENSG00000280213 chr20 63953384 63956985 + UCKL1-AS1 antisense 100113386 32 26 25 83 82 91 62 72 28 ENSG00000280214 chr16 67550815 67552935 - AC027682.7 TEC 0 0 2 7 1 10 1 4 0 ENSG00000280215 chr8 21129990 21130100 - AC021613.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280216 chr22 39379610 39380015 + AL022326.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280217 chr12 131235511 131237523 + AC126564.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280219 chr4 147487971 147496062 + AC093908.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280220 chr20 57161822 57163775 + AL157414.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280222 chr1 18109389 18115861 + AL365209.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280223 chrX 126004446 126006118 - AL645820.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280224 chr22 49500568 49501585 + AL008636.1 lincRNA 0 1 1 0 0 3 0 2 0 ENSG00000280225 chr7 57402181 57404717 - AC237221.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280227 chr16 53227146 53227694 + AC079416.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280228 chr2 112840328 112844195 + AC079753.1 TEC 3 2 2 2 2 28 3 7 15 ENSG00000280229 chr20 20363691 20365657 + AL161658.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280231 chr16 1553655 1554130 - AL031719.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280232 chr6 85498441 85499058 - AL589666.2 TEC 0 0 0 0 0 3 0 0 0 ENSG00000280233 chr17 57988180 57988760 + AC015813.7 TEC 11 6 20 2 1 8 3 5 3 ENSG00000280234 chr15 25255579 25257027 + AC124303.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280236 chr6 29395631 29398008 + OR12D2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 26529 GO:0016021, GO:0016021, GO:0005886, integral component of membrane, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000280237 chr11 133896438 133901601 - MIR4697HG TEC 8 6 16 19 2 9 26 1 14 ENSG00000280238 chr10 73791218 73791490 + AC022400.9 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280239 chr19 4448810 4450836 + AC011498.7 TEC 14 25 11 31 63 21 21 24 5 ENSG00000280241 chr4 154142122 154298819 + AC079298.3 antisense 1 0 0 0 0 0 0 0 0 ENSG00000280242 chr17 2255719 2256157 + AL450226.2 TEC 1 0 0 0 0 0 0 2 0 ENSG00000280243 chr21 8845566 8846646 + MTCO1P1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280244 chr14 105110347 105110807 - AL512356.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280245 chr17 32504567 32505644 - AC079336.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280247 chr19 4246339 4247358 - AC005578.1 TEC 14 24 21 11 8 32 13 11 22 ENSG00000280248 chr17 80339898 80342058 + AC124319.4 TEC 1 1 1 6 3 5 8 2 18 ENSG00000280249 chrX 134799782 134799945 - AL691477.1 pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280250 chr4 146231892 146232267 + AC097372.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280251 chr5 8143618 8143784 + AC091912.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280254 chr17 4787057 4789162 + AC233723.2 TEC 5 8 2 10 3 6 0 4 0 ENSG00000280255 chr7 26538378 26541048 + AC004947.2 TEC 0 0 0 0 0 0 0 0 1 ENSG00000280257 chr2 65790039 65793533 + AC007741.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280259 chr10 79970963 79973213 - AL512662.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280261 chr16 62342420 62342557 + AC009161.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280262 chr4 140498402 140501330 + AC093671.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280263 chr22 16486985 16488322 + AC137499.2 processed_pseudogene 440888 0 0 0 0 0 0 0 0 0 ENSG00000280265 chr16 19392213 19393468 - AC130456.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280266 chr7 157525783 157527325 + AC006372.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280267 chr1 13148905 13155961 - PRAMEF26 protein_coding 645359 GO:0005737, cytoplasm, 0 0 0 0 0 0 0 0 0 ENSG00000280268 chr17 3439923 3441844 - AC025125.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280269 chr11 74204869 74205746 + AP000577.1 TEC 1 0 4 7 10 10 4 2 3 ENSG00000280270 chr3 187383101 187384849 + AC068299.1 TEC 0 0 0 0 0 2 1 0 0 ENSG00000280272 chr12 126141952 126142377 + AC005858.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280273 chr8 11283481 11285068 - AF131216.4 antisense 9 3 6 4 12 4 8 4 2 ENSG00000280274 chr16 79016136 79017429 + AC009145.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280275 chrX 127392760 127394771 + Z82209.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280276 chr2 38121935 38123881 - AC009229.4 TEC 0 0 3 0 2 0 0 1 0 ENSG00000280277 chr6 88964527 88966587 + AL079342.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280278 chr16 86555320 86557299 + FLJ30679 TEC 146512 0 0 0 0 1 1 3 0 0 ENSG00000280279 chr17 64099 76866 - AC240565.2 lincRNA 0 4 1 0 8 8 1 0 30 ENSG00000280280 chr17 2460183 2460294 - AC006435.5 TEC 0 0 0 0 0 0 2 0 0 ENSG00000280281 chr14 32879246 32882830 + AL049781.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280282 chr19 19255638 19256141 + AC138430.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280283 chr16 17961597 17962370 + AC010601.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280284 chr4 156876435 156876820 + AC092608.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280285 chr4 56662469 56665694 - AC108215.1 TEC 2 1 0 0 0 0 0 0 0 ENSG00000280286 chr9 65646982 65652679 - FRG1KP unprocessed_pseudogene 6 2 6 1 2 6 10 2 1 ENSG00000280287 chr12 132550729 132554947 + AC131212.3 TEC 84 87 122 48 50 62 62 39 68 ENSG00000280288 chr11 11725332 11726702 - AC131935.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280291 chr15 96294935 96298023 - AC016251.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280294 chr8 10856085 10859436 - AC011008.2 TEC 1 0 0 0 0 0 0 0 0 ENSG00000280295 chr17 42233832 42235469 + AC099811.6 TEC 4 20 3 34 16 14 24 20 15 ENSG00000280296 chr13 52497097 52500195 - AL137058.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280299 chr17 64940602 64954177 + AC037487.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000280300 chr12 123754246 123754794 - AC117503.4 TEC 23 14 18 16 13 12 19 18 11 ENSG00000280302 chr18 12279427 12282739 + AP005264.7 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280303 chr8 140636281 140638283 + ERICD lincRNA 3 3 12 0 1 1 2 1 7 ENSG00000280304 chr15 95280753 95284249 - AC104260.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280305 chr5 29979669 29983114 + AC018765.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280306 chr16 20487702 20489659 + AC137056.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280307 chr11 87879473 87880095 - AP000676.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280309 chr15 74299503 74304527 + AC023300.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280310 chr4 4820405 4821452 + AC092437.1 TEC 0 0 0 0 0 0 0 0 1 ENSG00000280311 chr12 132621999 132622973 - AC131212.4 TEC 1 0 0 0 0 0 0 0 0 ENSG00000280312 chr22 47259366 47261007 + Z83836.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280314 chr11 56315144 56320639 + OR8K3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. 219473 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000280317 chr1 72979014 72979314 - AL732618.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280318 chr5 172609094 172609444 - AC027309.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280319 chr12 131436447 131436960 + AC073578.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280320 chr12 64696191 64696550 - AC025262.3 TEC 732 896 890 339 684 642 401 745 520 ENSG00000280321 chr11 36196248 36197901 + AC129502.1 TEC 0 1 0 0 0 0 0 0 0 ENSG00000280322 chrX 108725886 108726948 - AL035425.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280323 chr2 219427477 219429319 + AC053503.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280325 chr7 84939335 84940256 - AC074183.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280326 chr8 140591684 140593201 + AC067931.2 TEC 6 13 1 12 25 9 15 9 16 ENSG00000280327 chr16 1576716 1578371 - Z97633.1 TEC 0 0 0 0 0 0 1 0 0 ENSG00000280330 chr21 7129103 7130287 + CU634019.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280331 chr11 36510361 36510537 + AC061999.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280332 chr19 16356329 16358327 - AC020917.4 TEC 93 159 131 115 171 141 141 120 111 ENSG00000280333 chr17 2072823 2072956 + AC090617.9 TEC 1 4 4 2 0 0 0 0 0 ENSG00000280334 chr16 67006672 67009481 - AC009084.2 TEC 2 7 5 8 0 4 7 0 0 ENSG00000280335 chr18 49013106 49013819 + AC016866.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280336 chr5 141168231 141168893 + AC244517.12 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280337 chr10 133667151 133668419 + DUX4L25 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280338 chr5 8080186 8080761 - AC091941.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280339 chr11 86908990 86912238 - AP001528.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280340 chr7 18000290 18000879 - AC080080.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280341 chr22 15282557 15288670 - AP000542.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280344 chr16 51176066 51178898 + AC009166.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280345 chr12 8631545 8632259 - AC092184.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280346 chr21 6507017 6507389 - FP236240.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280347 chr7 127359785 127364759 - AC000123.3 TEC 62 42 84 56 46 84 44 40 48 ENSG00000280348 chr13 73800074 73802203 + AL138713.1 TEC 0 0 2 0 0 0 1 0 0 ENSG00000280349 chr17 33099969 33100319 - AC008133.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280350 chr20 21610787 21703585 - LINC01726 lincRNA 101929608 0 0 0 0 0 0 2 0 0 ENSG00000280351 chr17 81003335 81005132 + AC127496.7 TEC 100129503 3 5 6 9 8 7 1 9 2 ENSG00000280352 chr4 137601899 137602433 - AC116563.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280353 chr19 48198107 48199720 - AC011466.4 TEC 5 4 7 13 19 0 5 10 8 ENSG00000280354 chr12 124542503 124542873 + AC073592.9 TEC 1 0 0 0 0 2 0 0 0 ENSG00000280355 chr10 79681973 79684094 - AL132656.4 TEC 19 31 10 23 34 35 37 20 10 ENSG00000280356 chr22 34641179 34651862 + AL021877.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280357 chr13 44432144 44432678 + AL138960.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280359 chr15 77784610 77785070 - AC105133.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280360 chr2 687799 688348 + AC092159.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280362 chr15 53910769 53914712 + AC084759.3 TEC 0 0 0 1 0 0 0 0 0 ENSG00000280364 chr12 126106459 126107047 - AC005858.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280365 chr18 44732575 44733315 + AC021766.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280366 chr9 79975023 79990064 + AL161782.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280367 chr11 90223153 90226538 + AP002364.1 TEC 0 0 0 3 5 1 5 3 0 ENSG00000280368 chr5 10171030 10171214 - AC034229.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280369 chr5 10342813 10343131 + AC012640.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280371 chr6 41405819 41406561 + AL136967.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280372 chr21 10028361 10029855 - CR382285.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280373 chr5 8669018 8669250 - AC091953.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280374 chr2 177317715 177318471 - AC019080.5 sense_intronic 0 0 0 2 0 0 0 0 0 ENSG00000280375 chrX 74122134 74122725 - AL359740.1 TEC 0 1 0 0 0 0 1 0 1 ENSG00000280376 chr16 46673443 46673927 - AC012186.3 TEC 0 0 0 2 0 0 0 0 0 ENSG00000280377 chr15 89950760 89951345 + AC027176.3 TEC 0 0 1 0 0 0 0 0 0 ENSG00000280378 chr1 54033126 54034880 - AL353898.3 TEC 25 28 33 10 15 7 10 9 15 ENSG00000280379 chr11 93171134 93171906 + AP003072.5 TEC 4 17 18 3 6 10 11 18 16 ENSG00000280380 chr18 31982899 31986087 + AC009831.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280381 chr12 123087256 123092821 - AC026362.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280382 chr3 50599879 50601148 - AC096920.1 lincRNA 0 0 0 0 0 1 0 1 4 ENSG00000280383 chr22 45657019 45680130 + Z95331.1 sense_overlapping 2 1 0 3 2 2 1 2 12 ENSG00000280384 chr22 46163303 46165347 + FP325332.1 sense_intronic 0 0 1 0 0 0 1 0 1 ENSG00000280385 chr11 90193614 90198120 + AP000648.3 TEC 28 34 107 131 61 163 77 14 65 ENSG00000280387 chr20 56522252 56523499 + AL109806.1 TEC 63 58 46 27 57 73 45 49 37 ENSG00000280388 chr7 76043977 76045963 - AC006330.1 TEC 11 17 22 7 13 17 3 9 7 ENSG00000280390 chr2 21023496 21024170 + AC010872.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280392 chr16 53991012 53994454 + AC007496.3 TEC 0 1 0 0 0 0 0 0 0 ENSG00000280393 chr8 69938168 69938400 + AC090574.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280394 chr19 6263068 6263469 - AC011471.3 TEC 0 0 0 0 0 0 0 1 0 ENSG00000280395 chr22 50092745 50096437 + AL034546.1 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000280396 chr15 34999902 35000270 + AC114546.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280397 chr3 144442211 144445844 - AC011592.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280398 chr12 126130166 126130865 - AC005858.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280399 chr3 138482065 138485755 + AC022497.1 TEC 0 0 0 0 0 0 0 1 0 ENSG00000280400 chr16 23061767 23062232 + AC127459.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280401 chr10 70434829 70436556 + AC022532.1 TEC 38 27 24 35 77 51 38 31 47 ENSG00000280402 chr16 2578395 2579963 + AC093525.10 TEC 26 27 22 5 16 5 19 13 13 ENSG00000280404 chr7 102161120 102161337 - AC005086.4 pseudogene 1 0 0 0 1 0 0 0 0 ENSG00000280405 chr12 130144954 130145691 + AC026336.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280406 chr18 34221007 34221603 - AC104985.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280407 chr17 82249067 82251844 + AC132872.4 TEC 1453 1660 1925 1511 1839 1920 1874 1490 1734 ENSG00000280408 chr17 1352070 1352255 + AC032044.2 TEC 0 0 1 0 0 0 0 0 0 ENSG00000280409 chr2 120464335 120466218 - LINC01101 TEC 84931 0 0 0 0 0 0 0 0 0 ENSG00000280411 chr14 106762092 106762588 - IGHV1-69D IG_V_gene 0 0 0 0 1 0 0 1 0 ENSG00000280412 chr19 16019719 16020290 + AC004790.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280414 chr2 174334438 174337566 - AC018470.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280415 chr12 125858862 125861119 + AC005252.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280416 chr16 66944660 66945096 - AC009084.3 TEC 21 23 18 9 18 8 25 27 13 ENSG00000280417 chr3 53046166 53048122 + AC096887.2 TEC 0 0 0 2 0 0 0 0 0 ENSG00000280418 chr22 18951934 18959512 - AC007326.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280419 chr16 87296949 87297633 + AC010531.8 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280420 chr5 134522613 134523096 - AC005355.2 TEC 0 0 0 0 0 4 0 1 0 ENSG00000280422 chr3 51951849 51953902 - AC115284.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280423 chr6 2561947 2564143 + AL359852.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280424 chr22 46006616 46010777 + BX537318.2 TEC 730668 0 1 0 0 0 5 0 4 0 ENSG00000280425 chr1 54137746 54142980 + AL357673.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000280426 chr12 109997419 109999127 - AC084876.2 TEC 1 0 0 2 2 0 0 2 0 ENSG00000280429 chr16 15790975 15792717 - AF001548.3 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280430 chr11 90731110 90731723 + AP002782.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280431 chr13 34079411 34080134 + AL160394.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280432 chr21 16525919 16527019 + AP000962.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280433 chr21 5155499 5165472 - FP565260.6 protein_coding 44 69 102 58 67 73 68 63 51 ENSG00000280434 chr22 44139365 44153626 + AL031595.3 sense_overlapping 0 0 0 0 0 2 2 0 0 ENSG00000280435 chr3 44115818 44117487 - AC006058.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280436 chr21 9053122 9059060 + CR392039.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280438 chr5 8717684 8717883 - AC091932.4 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280439 chr7 106035798 106036431 + AC004836.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280440 chr7 90345873 90346218 - AC002064.3 TEC 0 0 0 0 1 0 0 0 0 ENSG00000280441 chr21 8380665 8410645 + FP236383.1 lincRNA 0 0 2 0 0 4 3 0 4 ENSG00000280443 chr6 21822536 21822737 + AL136313.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280444 chr12 124623391 124623987 + AC073592.10 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280445 chr22 27414462 27419713 - AL049536.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280446 chr10 131831910 131833508 - AL607033.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280449 chr5 10168783 10169006 + AC034229.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280450 chr10 5346651 5347277 + AL683826.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280451 chr6 93811825 93813036 + AL356094.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280453 chr8 17498737 17499157 + AP006248.5 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280454 chr16 54114697 54114878 - AC007347.2 pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280455 chr13 105690429 105702689 + AL359745.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280457 chr4 190091005 190092279 + DUX4L2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280466 chr1 155925958 155926085 - SCARNA4 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000280474 chr9 128595893 128596633 + AL356481.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000280485 chr10 93772681 93788605 - AL358154.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000280486 chr19 1386804 1389651 - AC005329.3 antisense 29 44 51 42 45 36 34 32 38 ENSG00000280494 chr14 75604209 75604261 + MIR7641-2 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000280496 chr9 136726104 136726239 - SNORA17B snoRNA 677824 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000280498 chr1 28580920 28581054 - SNORA16A snoRNA 692073 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000280502 chr11 118994334 118994630 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000280511 chr6 76561328 76562590 + AL591030.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280515 chr15 70635249 70637314 + SALRNA2 lincRNA 104548973 0 0 0 0 0 0 0 0 0 ENSG00000280537 chr2 219075329 219170827 - AC068946.1 protein_coding 0 1 2 4 6 2 2 3 2 ENSG00000280543 chr8 130082738 130084768 - ASAP1-IT2 sense_intronic 100507117 6 6 4 6 20 15 8 7 10 ENSG00000280551 chr4 119042024 119043937 + AC096745.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280554 chr15 66502019 66502089 - RF01159 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000280560 chr10 89853906 89914948 + LINC01374 lincRNA 105378425 0 0 0 0 0 0 0 1 0 ENSG00000280561 chr10 125707416 125749525 - AL158835.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000280571 chr3 42705756 42804518 - AC006059.2 protein_coding 6 7 3 0 3 0 5 2 1 ENSG00000280580 chr13 68878380 68893573 + LINC02342 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280587 chr1 235065479 235074220 - LINC01348 lincRNA 4 2 4 7 1 3 2 2 0 ENSG00000280594 chr21 17611744 17633199 + BTG3-AS1 processed_transcript 110806272 4 0 5 13 2 4 22 0 0 ENSG00000280604 chr21 45914296 45919483 + AJ239328.1 sense_overlapping 7 11 8 12 17 0 11 14 0 ENSG00000280607 chr16 29808679 29812227 + AC009133.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000280614 chr21 8393419 8394341 - FP236383.2 lincRNA 1 3 3 1 0 7 3 1 2 ENSG00000280620 chr3 63911518 63911772 - SCAANT1 antisense 100861563 13 8 11 8 12 19 7 26 8 ENSG00000280623 chr22 23536881 23547797 + PCAT14 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280634 chr12 125025434 125027410 - THRIL antisense 102659353 35 53 67 6 31 26 25 23 26 ENSG00000280636 chr2 179934401 179934538 - RF00416 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000280639 chr15 70570958 70586606 - LINC02204 lincRNA 101929151 0 0 0 0 0 0 0 0 0 ENSG00000280646 chr5 146586099 146586200 - RNA5SP196 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280649 chr1 148458814 148459871 + AC245100.8 TEC 58 49 97 29 46 55 34 39 43 ENSG00000280650 chr4 21843341 21853188 - KCNIP4-IT1 lincRNA 359822 0 0 0 0 0 0 0 0 0 ENSG00000280655 chr15 21752278 21752710 - AC134981.1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280660 chr10 93762453 93771991 + AL157396.1 sense_intronic 0 0 0 1 0 0 0 0 0 ENSG00000280665 chr6 168820423 168820656 + AL513210.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280670 chr1 45493866 45500079 - CCDC163 protein_coding 126661 GO:0016021, integral component of membrane, 2 3 2 0 5 1 7 3 1 ENSG00000280683 chr9 30388935 30575012 - LINC01242 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280693 chr10 103745966 103755423 + SH3PXD2A-AS1 antisense 100505839 0 0 0 0 0 0 0 0 0 ENSG00000280703 chr15 21342171 21343958 + AC060814.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280704 chrX 70846080 70846295 - SNORD3E snoRNA 109617015 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000280707 chr6 167228300 167237511 + HPAT5 lincRNA 112590798 0 0 0 0 0 0 0 0 0 ENSG00000280709 chr15 21552795 21653276 + LINC02203 protein_coding 727924 0 0 0 0 0 0 0 0 0 ENSG00000280710 chr13 99498737 99501250 + AL139035.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280711 chr4 128768228 128769948 + JADRR lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280719 chr10 35778302 35800920 + PCAT5 lincRNA 102578074 0 0 0 0 0 0 0 0 0 ENSG00000280721 chr2 87439523 87459044 - LINC01943 lincRNA 124 75 134 85 117 104 102 123 97 ENSG00000280725 chr8 65161145 65184210 - LINC00251 lincRNA 552859 0 0 0 0 0 0 0 0 0 ENSG00000280734 chr13 99486962 99499306 - LINC01232 processed_transcript 45 28 57 30 49 29 20 21 64 ENSG00000280739 chr3 40173145 40309698 - EIF1B-AS1 processed_transcript 440952 21 14 32 13 14 41 27 23 15 ENSG00000280744 chr2 234682668 234717764 + LINC01173 lincRNA 106144537 0 0 0 0 0 0 0 0 0 ENSG00000280752 chrX 149825708 149879799 + LINC00850 lincRNA 101241891 0 0 0 0 0 0 0 0 0 ENSG00000280757 chr4 190084412 190085686 + DUX4L1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280758 chr9 128630328 128631685 - AL356481.3 antisense 17 16 34 15 31 15 14 25 58 ENSG00000280767 chrX 419157 421980 + AL732314.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280773 chr11 104252591 104252651 + MIR7641-1 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000280776 chr5 161910252 162001196 - LINC01202 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280778 chr1 145927258 145977811 + AC243547.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000280780 chr5 147559994 147662009 + JAKMIP2-AS1 antisense 153469 0 2 4 3 4 9 0 3 7 ENSG00000280789 chr16 29815952 29820117 + PAGR1 protein_coding C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008]. 79447 GO:0044666, GO:0044666, GO:0035097, GO:0005634, MLL3/4 complex, MLL3/4 complex, histone methyltransferase complex, nucleus, GO:0030331, GO:0030331, GO:0005515, estrogen receptor binding, estrogen receptor binding, protein binding, GO:1902808, GO:1902808, GO:0051568, GO:0045944, GO:0033148, GO:0033148, GO:0006310, GO:0006281, positive regulation of cell cycle G1/S phase transition, positive regulation of cell cycle G1/S phase transition, histone H3-K4 methylation, positive regulation of transcription by RNA polymerase II, positive regulation of intracellular estrogen receptor signaling pathway, positive regulation of intracellular estrogen receptor signaling pathway, DNA recombination, DNA repair, 4 7 13 5 2 8 0 5 4 ENSG00000280798 chr11 33076149 33079454 + LINC00294 lincRNA 283267 23 45 74 46 50 63 45 21 80 ENSG00000280799 chr4 190077818 190079092 + DUX4L5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280800 chr21 8210384 8211306 - FP671120.3 lincRNA 3 0 1 0 0 0 1 0 3 ENSG00000280809 chr10 25651712 25732935 + LINC00836 lincRNA 101929052 0 0 0 0 0 0 0 0 0 ENSG00000280828 chr7 128533652 128615970 + AC090114.3 unprocessed_pseudogene 38 10 28 11 21 29 20 19 17 ENSG00000280832 chr11 126340889 126355587 - GSEC antisense 56 68 118 27 58 42 48 45 52 ENSG00000280836 chr1 45581219 45581321 - AL355480.1 pseudogene 0 0 1 0 0 0 0 2 0 ENSG00000280837 chr2 210617571 210619876 + CPS1-IT1 sense_intronic This gene does not encode a protein, and it is located within an intron of the gene encoding carbamoyl-phosphate synthetase 1. [provided by RefSeq, Jul 2008]. 29034 0 0 0 0 0 0 0 0 0 ENSG00000280850 chr6 166275462 166277077 - AL121956.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280852 chr17 60101759 60102919 - AC025048.6 transcribed_processed_pseudogene 653653 23 12 42 6 12 19 15 18 30 ENSG00000280870 chrX 76657798 77014532 - MIR325HG lincRNA 101928469 0 0 0 0 0 0 0 0 0 ENSG00000280878 chr2 111468810 111637967 + AC017002.5 lincRNA 0 1 1 0 0 0 0 0 0 ENSG00000280881 chr15 21328380 21343881 - AC060814.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280890 chr7 55235965 55255635 - ELDR lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280893 chr16 29812261 29820092 + AC009133.6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000280894 chr5 69160808 69160939 + SNORA50D snoRNA 109616958 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000280904 chr3 52688882 52688961 + RF01183 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000280913 chr10 46753605 46759740 + CTSLP2 transcribed_unprocessed_pseudogene 1517 0 0 0 0 0 0 0 0 0 ENSG00000280916 chr6 1605531 1606079 + FOXCUT lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280920 chr7 54201224 54202421 + AC092848.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000280924 chr1 204368431 204369719 - LINC00628 lincRNA 127841 0 4 0 1 4 8 3 0 0 ENSG00000280927 chr4 1210120 1218591 + CTBP1-AS antisense 285463 244 275 348 248 255 251 225 217 288 ENSG00000280936 chr20 63422269 63424555 + AL353658.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000280953 chr10 128181032 128317726 + LINC01163 lincRNA 101927381 1 0 0 2 0 14 0 0 4 ENSG00000280958 chr7 78170195 78170915 + AC004808.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000280961 chrY 23936727 23941622 - TTTY3B lincRNA There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. 474148 0 0 0 0 0 0 0 0 0 ENSG00000280968 chr22 29333158 29333267 - MIR3653 miRNA 0 0 1 3 0 0 0 0 0 ENSG00000280969 chrY 20756164 20781032 + RPS4Y2 protein_coding The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012]. 140032 GO:0022627, GO:0005575, cytosolic small ribosomal subunit, cellular_component, GO:0019843, GO:0003735, GO:0003723, GO:0003674, rRNA binding, structural constituent of ribosome, RNA binding, molecular_function, GO:0008150, GO:0006412, biological_process, translation, 21 31 21 6 22 21 9 23 13 ENSG00000280987 chr5 139273752 139331671 + MATR3 protein_coding This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]. 9782 GO:0016363, GO:0016020, GO:0005637, GO:0005634, nuclear matrix, membrane, nuclear inner membrane, nucleus, GO:0042802, GO:0035198, GO:0008270, GO:0005515, GO:0005198, GO:0003729, GO:0003723, identical protein binding, miRNA binding, zinc ion binding, protein binding, structural molecule activity, mRNA binding, RNA binding, GO:0045087, GO:0010608, GO:0006417, GO:0003281, GO:0003170, GO:0002218, innate immune response, posttranscriptional regulation of gene expression, regulation of translation, ventricular septum development, heart valve development, activation of innate immune response, 0 0 0 0 0 0 0 0 0 ENSG00000280989 chr6 21486061 21511895 - LINC00581 lincRNA 100874531 0 0 0 0 0 0 0 0 0 ENSG00000280991 chr6 166229334 166229554 + AL121956.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000280997 chr8 127400399 127402150 + CCAT2 lincRNA This gene produces a long non-coding RNA that is upregulated in colon cancer and other cancers. This transcript promotes cell proliferation and suppresses apoptosis. It negatively regulates the biogenesis of microRNA 145. [provided by RefSeq, Dec 2017]. 101805488 0 0 0 0 0 3 3 0 0 ENSG00000281000 chr17 19112420 19112636 - SNORD3D snoRNA 780854 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000281005 chr16 3263743 3267567 + LINC00921 lincRNA 283876 509 670 632 330 590 441 443 379 390 ENSG00000281008 chr7 78134079 78134851 + AC004808.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000281010 chr16 2155025 2155104 - RF00345 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000281016 chr4 386174 454070 + AC092574.2 antisense 0 1 0 0 1 0 0 0 0 ENSG00000281021 chr6 149576089 149590864 - AL078581.3 antisense 76 60 93 10 55 43 9 38 36 ENSG00000281026 chr13 32504506 32509395 - N4BP2L2-IT2 sense_intronic 116828 86 110 154 57 61 63 45 49 57 ENSG00000281028 chr4 25160663 25277306 + AC104662.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000281039 chr7 30497077 30550761 - AC005154.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000281058 chr4 190074525 190075799 + DUX4L6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281072 chr2 231768604 231768680 + AC073476.4 pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000281087 chr15 21709649 21710270 - AC135068.6 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000281091 chrX 103404777 103408299 + AL606763.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281097 chr11 129612116 129617269 - LINC01395 lincRNA 101929557 0 0 0 1 0 0 0 0 1 ENSG00000281100 chr3 36823151 36825158 - AC105749.1 TEC 11 32 23 61 136 123 73 75 85 ENSG00000281103 chr7 38341577 38378804 + TRG-AS1 antisense 100506776 7 6 29 46 18 60 35 17 47 ENSG00000281106 chr13 51813347 51845175 - TMEM272 protein_coding 283521 GO:0016021, integral component of membrane, 49 46 228 64 101 231 83 76 214 ENSG00000281112 chr1 45592722 45592814 - AL355480.2 pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000281113 chr15 21703428 21705627 - AC135068.7 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281120 chr7 79139829 79177210 + AC006355.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000281128 chr9 33677268 33688011 + PTENP1-AS antisense PTENP1-AS encodes an antisense RNA (asRNA) of PTENP1, a PTEN (phosphatase and tensin homolog) pseudogene. PTENP1 regulates PTEN by both sense (GeneID: 11191) and antisense RNAs. This antisense RNA (PTENP1-AS) regulates PTEN transcription and mRNA stability. [provided by RefSeq, Jun 2020]. 101243555 0 0 0 0 0 1 1 0 0 ENSG00000281131 chr2 180692104 180916939 + SCHLAP1 lincRNA 101669767 0 0 0 0 0 0 0 0 0 ENSG00000281133 chr1 45580892 45580996 - AL355480.3 pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281156 chr9 92292458 92292547 - MIR3651 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500918 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000281159 chr2 130929762 130929883 - RF00426 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000281160 chr3 42264989 42266390 + AC018358.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000281162 chr2 101962056 101987167 + LINC01127 lincRNA 441 479 501 82 247 98 96 179 54 ENSG00000281167 chr13 74434538 74555515 + AL355390.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281179 chr15 21717808 21718245 - AC135068.8 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000281181 chr21 8437629 8438551 - FP236383.3 lincRNA 167 199 268 114 70 143 259 96 116 ENSG00000281183 chr15 73567012 73569294 - NPTN-IT1 sense_intronic 95 76 126 38 71 64 57 53 53 ENSG00000281186 chr10 6774307 6779180 - LINC00706 lincRNA 100652997 0 0 0 0 0 0 0 0 0 ENSG00000281189 chr7 148987527 148989432 + GHET1 lincRNA This gene encodes an unspliced long non-coding RNA that has been suggested to promote the proliferation of gastric carcinoma cells and bladder cancer cells. [provided by RefSeq, Dec 2014]. 102723099 0 0 2 0 0 4 0 0 0 ENSG00000281195 chr2 71373938 71376320 + AC007878.1 lincRNA 49 66 77 51 98 99 81 64 115 ENSG00000281196 chr12 119283825 119303380 - LINC00934 lincRNA 144742 0 0 0 0 0 0 0 0 0 ENSG00000281202 chr4 13526319 13534335 - LINC01097 lincRNA 285547 0 0 0 0 0 0 0 0 0 ENSG00000281207 chr1 41014590 41043890 + SLFNL1-AS1 antisense 100507178 3 0 5 6 8 28 9 4 0 ENSG00000281219 chr16 1878285 1884233 - LINC00254 lincRNA 64735 0 0 0 0 0 0 0 0 0 ENSG00000281228 chr14 67616903 67617084 + AL132640.3 pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281248 chr6 127664554 127681555 + LINC02536 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281264 chr15 70615547 70616567 + SALRNA3 lincRNA 104548972 0 0 0 0 0 0 0 0 0 ENSG00000281269 chr15 43109928 43110018 + AC068724.2 pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281295 chr22 33704786 33704922 - SNORA50B snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000281311 chr17 64146337 64146471 + RF00407 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000281327 chr5 82850864 82859836 - LINC01338 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281332 chr7 32760279 32762924 + LINC00997 lincRNA 1 0 0 1 0 0 0 0 1 ENSG00000281333 chr12 88580531 88598218 + AC024941.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000281344 chr12 102197585 102402596 + HELLPAR macro_lncRNA 1 3 0 10 0 1 4 1 0 ENSG00000281347 chr15 21490364 21509404 - NF1P9 transcribed_unprocessed_pseudogene 440225 0 0 0 0 0 0 0 0 0 ENSG00000281348 chr16 29817239 29830627 + AC120114.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000281357 chr5 91380349 91439085 + ARRDC3-AS1 lincRNA 100129716 14 28 37 6 6 15 11 9 9 ENSG00000281358 chr3 50337511 50338300 + RASSF1-AS1 antisense 102060282 56 87 112 36 100 90 98 82 85 ENSG00000281365 chr20 48471308 48472414 + AL049541.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281369 chr4 129041766 129041877 + AC093826.2 pseudogene 8 1 2 18 20 19 13 15 14 ENSG00000281371 chrX 15785716 15787589 - INE2 antisense 8551 10 5 16 9 4 26 5 1 10 ENSG00000281376 chr20 31721507 31723409 + ABALON antisense 103021294 62 45 58 40 44 41 38 47 35 ENSG00000281379 chr19 186373 195696 - SEPT14P19 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281383 chr21 8254592 8255514 - FP671120.4 lincRNA 2 0 0 0 0 0 0 0 0 ENSG00000281386 chr11 129591493 129612110 + AP003500.1 lincRNA 1 0 0 0 0 0 0 0 0 ENSG00000281392 chr3 87089129 87157069 + LINC00506 lincRNA 100846978 0 0 0 0 0 0 0 0 0 ENSG00000281394 chr1 155925958 155926086 - SCARNA4 scaRNA 677771 GO:0015030, GO:0005730, Cajal body, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000281398 chr5 139274102 139284899 + SNHG4 lincRNA 2 0 2 20 5 13 11 10 9 ENSG00000281404 chr7 30390885 30412375 + LINC01176 lincRNA 100506516 25 32 51 65 67 72 60 45 49 ENSG00000281406 chr1 205434886 205437879 - BLACAT1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281420 chr21 43748365 43748468 - AP001052.1 pseudogene 3 10 12 5 3 5 2 6 10 ENSG00000281426 chr3 60617805 60617870 - MIR548BB miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504735 0 0 0 0 0 0 0 0 0 ENSG00000281450 chr6 36673621 36675126 - PANDAR lincRNA This gene produces a non-coding RNA that is thought to regulate the response to DNA damage. This gene is induced by tumor protein p53 and interacts with and modulates the activity of a transcription factor that induce pro-apoptotic genes. Deregulation of this gene is associated with cancer progression. [provided by RefSeq, Dec 2017]. 101154753 0 0 0 0 1 1 0 0 1 ENSG00000281453 chr1 218442626 218443996 + TGFB2-OT1 3prime_overlapping_ncRNA 103611157 0 0 0 0 0 0 0 0 0 ENSG00000281460 chr20 48476999 48477553 + AL049541.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281468 chr19 27802838 27803472 + AC006504.8 sense_intronic 0 1 2 1 0 0 0 0 0 ENSG00000281469 chr2 148044380 148044894 + AC019226.1 TEC 14 30 11 7 19 23 14 12 11 ENSG00000281473 chr3 139232992 139233522 + PISRT1 lincRNA 140464 0 0 0 0 0 0 0 0 0 ENSG00000281477 chr2 87249095 87253750 - LINC01955 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281490 chr7 128655962 128658791 - CICP14 processed_pseudogene 206 243 203 221 339 230 282 198 222 ENSG00000281491 chr9 34985410 34989379 - DNAJB5-DT lincRNA 101926900 0 0 2 5 0 12 2 3 15 ENSG00000281501 chr4 25160641 25201440 + SEPSECS-AS1 antisense 20 17 28 21 26 32 23 18 39 ENSG00000281516 chr2 130929762 130929884 - RF00423 scaRNA 0 0 0 0 0 0 0 0 0 ENSG00000281530 chr22 19061041 19061843 - AC004461.2 sense_intronic 48 74 37 52 114 94 107 100 62 ENSG00000281538 chr22 42138060 42139726 + AC254562.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281548 chr22 19565203 19566839 - LINC00895 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281550 chr15 21735506 21735945 - AC135068.9 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281560 chr5 2712591 2715237 + LSINCT5 lincRNA 101234261 1 2 0 0 5 0 1 1 0 ENSG00000281566 chrX 98450688 98892061 + AL157778.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281571 chr1 145214851 145215938 + AC241585.2 TEC 44 24 68 29 19 81 35 33 31 ENSG00000281591 chr4 190064502 190067864 + DBET lincRNA 100419743 0 0 0 0 0 0 0 0 0 ENSG00000281593 chr7 30362400 30412502 + AC006978.2 protein_coding 1 2 4 0 1 6 4 0 2 ENSG00000281613 chr6 112236806 112350094 + AL365214.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000281627 chr4 190087705 190088979 + DUX4L3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281641 chr8 118621001 118858218 + SAMD12-AS1 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000281649 chr9 37079857 37090507 + EBLN3P lincRNA 100506710 1488 1482 1603 529 774 825 646 714 761 ENSG00000281652 chr4 190071232 190072506 + DUX4L7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281655 chr11 102681310 102683913 + AP000851.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281664 chr1 213924749 213926654 - LINC00538 lincRNA 100861504 0 0 0 0 0 0 0 0 0 ENSG00000281691 chr3 50099603 50100988 - RBM5-AS1 antisense This gene produces a non-coding RNA in antisense to the RNA binding motif protein 5 (RBM5) gene. This transcript interacts with beta catenin and may regulate expression of WNT target genes. [provided by RefSeq, Sep 2016]. 100775107 445 438 669 296 400 508 414 322 387 ENSG00000281692 chr6 163309985 163324530 - PACRG-AS1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000281696 chr1 220200538 220200619 - MIR664A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302234 GO:0005730, GO:0005615, nucleolus, extracellular space, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000281706 chr6 27694035 27710222 + LINC01012 lincRNA 100507173 1 0 1 0 0 0 1 0 0 ENSG00000281708 chr3 55657206 55659382 - ERC2-IT1 sense_intronic This gene is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]. 711 0 0 0 0 0 0 0 0 0 ENSG00000281710 chr3 30304321 30304536 - RF00012 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000281720 chr4 190067935 190069209 + DUX4L8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281721 chr13 80011077 80028283 + LINC01080 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281731 chr4 118664087 118685341 - AC110079.2 lincRNA 101929741 0 1 0 0 2 3 0 0 0 ENSG00000281732 chr22 48538900 48547387 - Z84468.1 processed_transcript 284933 0 0 0 0 0 0 0 0 0 ENSG00000281741 chr1 120913151 120914238 - AC241377.3 TEC 133 122 146 69 78 133 65 98 104 ENSG00000281756 chr6 31934474 31941724 - C2-AS1 antisense 102060414 0 0 0 0 0 0 0 0 0 ENSG00000281769 chr9 1045625 1048641 + LINC01230 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281772 chr2 148062154 148062577 + AC019226.2 TEC 0 0 2 2 3 2 0 3 1 ENSG00000281778 chr13 68861284 68885325 - LINC00550 lincRNA 338862 0 0 0 0 0 0 0 0 0 ENSG00000281780 chr2 206161841 206161929 + RF00134 snoRNA 0 0 0 8 0 0 0 1 0 ENSG00000281808 chr9 136726748 136726879 - RF00560 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000281809 chr6 1321698 1324022 - LINC01394 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281825 chr1 45605657 45605730 - AL355480.4 pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281831 chr6 29871895 29873783 - HCP5B lincRNA 352990 0 0 1 0 0 0 1 0 0 ENSG00000281832 chr6 165987551 165989615 + LINC00602 lincRNA 441177 0 0 0 0 0 0 0 0 0 ENSG00000281842 chr12 48654444 48654530 - MIR1291 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302221 0 1 0 0 0 0 0 0 0 ENSG00000281849 chrX 386980 405579 + AL732314.6 antisense 0 0 0 0 0 0 0 0 0 ENSG00000281852 chrX 71697196 71706455 + LINC00891 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281856 chr17 19219143 19222527 + AC106017.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000281859 chr1 44778390 44778458 + SNORD38B snoRNA 94163 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000281863 chr3 8931495 8931632 + RF00416 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000281880 chr11 31812307 32002405 + PAUPAR processed_transcript This gene is thought to produce a functional long non-coding RNA. Knockdown of this transcript results in genome-wide changes in gene expression, particularly of cell cyle genes, indicating a role in regulating differentiation. This transcript may bind to the promoter region of target genes and may also interact with the transcription factor Pax6 (paired box 6). [provided by RefSeq, Feb 2015]. 103157000 0 0 0 0 0 0 0 0 0 ENSG00000281883 chr13 43883800 44028526 + AL512506.3 protein_coding 0 0 0 0 0 1 0 0 0 ENSG00000281887 chr7 150716668 150743646 + GIMAP1-GIMAP5 protein_coding This locus represents naturally occurring readthrough transcription between the neighboring GIMAP1 (GTPase, IMAP family member 1) and GIMAP5 (GTPase, IMAP family member 5) genes on chromosome 7. Alternative splicing results in multiple readthrough transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2015]. 100527949 0 0 0 0 0 0 0 0 0 ENSG00000281896 chr7 128617865 128625905 + AC018638.8 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281903 chr21 14819699 14918552 - LINC02246 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281904 chr2 90365737 90367699 + AC233263.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281909 chr15 22480439 22484840 - HERC2P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281910 chr16 58559796 58559931 - SNORA50A snoRNA 677830 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000281912 chr1 45303910 45305619 + LINC01144 lincRNA 400752 0 0 0 6 0 0 3 0 0 ENSG00000281920 chr2 65623272 65628424 + AC007389.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281938 chr5 131807143 131994278 - AC026398.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000281941 chrX 9412772 9413522 + AC073488.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281955 chrX 9411701 9412478 + AC073488.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000281958 chr7 142788225 142788275 + TRBJ1-4 TR_J_gene 1 3 4 12 3 14 3 4 6 ENSG00000281961 chr8 1377867 1380307 + AF067845.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000281969 chr6 39818751 39823227 + AL592158.1 TEC 4 1 12 1 4 9 0 4 8 ENSG00000281974 chr10 86948677 86949875 + AC025268.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000281990 chr14 106737110 106737547 - IGHV1-69-2 IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000281991 chr16 30740381 30744281 + TMEM265 protein_coding 100862671 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000282012 chr22 24691122 24696003 - AP000357.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282021 chr8 1758208 1760447 - AC100810.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282022 chr12 8858143 8915276 - AC006581.2 antisense 1 1 3 0 0 0 1 0 0 ENSG00000282024 chr6 16259101 16264553 - AL009031.1 antisense 0 2 0 0 0 1 0 2 0 ENSG00000282033 chr2 109758799 109760364 - AC074387.1 lincRNA 105373553 0 0 0 0 0 0 0 0 0 ENSG00000282034 chr16 30704067 30745169 + AC106886.5 protein_coding 17 12 18 6 26 23 24 20 27 ENSG00000282041 chr22 35376422 35377261 + Z82244.1 lincRNA 0 0 0 0 3 0 0 0 3 ENSG00000282048 chr1 114032393 114034511 + AL591742.2 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000282051 chr19 197961 200775 + AC010507.1 transcribed_processed_pseudogene 23 13 37 35 25 38 48 13 49 ENSG00000282057 chr1 85482281 85578250 - AC092807.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282059 chr19 193239 195595 + CICP19 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000282080 chr12 8014093 8019007 - AC006511.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282089 chr15 21012559 21012589 - IGHD3OR15-3B IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000282097 chr1 234709383 234720220 + AL160408.6 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282100 chr15 58691106 58693125 - HSP90AB4P processed_pseudogene 1 3 6 16 7 11 16 5 12 ENSG00000282111 chr1 229022773 229038274 - AL137793.2 lincRNA 2 0 0 0 0 0 0 0 0 ENSG00000282121 chr10 60139912 60140877 + AL592430.2 antisense 0 0 0 0 0 0 1 0 0 ENSG00000282122 chr14 106025145 106025630 - IGHV7-4-1 IG_V_gene 1 3 2 4 1 0 0 0 0 ENSG00000282133 chr7 142787630 142787679 + TRBJ1-3 TR_J_gene 1 0 0 0 0 0 0 0 0 ENSG00000282137 chr19 94062 94974 + OR4G3P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282142 chr8 2517898 2529710 - AC245187.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282143 chr1 16656879 16667524 + AL137798.2 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000282160 chr8 1373685 1381394 + AF067845.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282164 chr8 140094894 140100543 - PEG13 sense_intronic 359809 8 15 19 17 21 32 15 12 9 ENSG00000282173 chr7 142788498 142788547 + TRBJ1-5 TR_J_gene 0 0 0 0 0 0 0 0 0 ENSG00000282199 chr17 43914433 43923001 - AC007993.3 antisense 0 1 0 0 0 0 0 0 0 ENSG00000282206 chr3 195635188 195636301 + AC233280.19 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282218 chr6 117318211 117573571 - AL132671.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000282221 chr1 201399633 201401190 + AC119427.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000282222 chrX 9410789 9411545 + AC073488.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282246 chr10 13610047 13655929 + AL157392.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000282265 chr1 215393646 215394418 - AL450990.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282268 chr15 21015048 21015078 - IGHD2OR15-2B IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000282277 chr7 99685145 99700034 - CYP3A51P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282278 chr4 53377839 54295272 + AC058822.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000282299 chrX 9408818 9409571 + AC073488.5 processed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000282300 chrX 9413816 9414569 + AC073488.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282301 chr7 99685226 99735093 - CYP3A7-CYP3A51P protein_coding This locus represents readthrough transcription between the neighboring CYP3A7 (cytochrome P450, family 3, subfamily A, polypeptide 7) and CYP3A51P (cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene) genes, which are members of the CYP3A gene cluster on chromosome 7. The downstream pseudogene is not known to be independently transcribed. The readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of the pseudogene. It encodes a CYP3A isoform with a novel C-terminus. This isoform is only expressed in alleles containing a T nucleotide at the -6 position of a splice acceptor in the pseudogene, which enables correct splicing of the upstream CYP3A7 exons to the pseudogene exons. It should be noted that the reference genome sequence represents the CYP3A7_39256 T->A allele, and thus this haplotype is unlikely to produce the readthrough transcript. [provided by RefSeq, Jan 2015]. 100861540 0 0 0 0 0 0 0 0 0 ENSG00000282304 chr2 110245591 110285856 + AC140479.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000282306 chrX 9404954 9405731 + AC073488.7 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282308 chr14 35222174 35222746 + DPRXP3 processed_pseudogene 2 3 0 0 0 0 4 2 0 ENSG00000282317 chr1 244731024 244731586 + AL451007.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282320 chr7 142786880 142786927 + TRBJ1-1 TR_J_gene 0 0 1 0 0 0 0 0 0 ENSG00000282321 chr8 46828117 46828413 - MTND1P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282327 chr3 180201159 180201212 + AC134503.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282339 chr19 200499 201174 - AC010507.2 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282358 chrX 9406952 9407708 + AC073488.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282375 chr8 738548 740374 + AC100797.4 lincRNA 401442 0 0 0 0 0 0 0 0 0 ENSG00000282381 chr7 65269374 65306238 + AC104073.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282386 chr1 153964361 153965070 + AL358472.4 antisense 16 12 12 5 12 12 2 4 3 ENSG00000282390 chr10 1290018 1293002 - AL392083.1 sense_intronic 0 0 0 0 0 0 0 3 0 ENSG00000282393 chr19 248551 251571 - AC016588.2 lincRNA 4 0 2 0 5 0 0 0 0 ENSG00000282408 chr6 106451496 106457248 - AL109920.1 antisense 105377924 0 0 1 1 0 0 0 0 0 ENSG00000282413 chr10 119818866 119819133 + AL133461.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282416 chr19 197310 198066 - AC092299.1 processed_pseudogene 15 6 9 8 6 14 21 4 16 ENSG00000282418 chr1 225465021 225473837 + AC092811.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282419 chrX 124246249 124336862 + TEX13D protein_coding 100132015 GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000282420 chr7 142787017 142787064 + TRBJ1-2 TR_J_gene 1 0 0 0 0 0 2 0 0 ENSG00000282431 chr7 142786213 142786224 + TRBD1 TR_D_gene 0 0 0 1 0 0 0 0 0 ENSG00000282432 chr10 80053428 80053548 - AL356095.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282440 chr2 156305108 156320255 - AC074099.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282458 chr19 60951 71626 - WASH5P transcribed_processed_pseudogene 375690 6 1 2 6 2 2 4 2 1 ENSG00000282478 chr20 11536406 11541647 - AL109837.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282499 chr7 142670740 142671244 + TRBV25-1 TR_V_gene 0 1 0 0 0 3 0 0 0 ENSG00000282501 chrX 9406025 9406778 + AC073488.9 processed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000282502 chr3 149463779 149464114 - FKBP1AP4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282508 chr19 198264 239440 - LINC01002 processed_transcript 401 208 354 459 261 466 483 311 391 ENSG00000282511 chr3 75629993 75634057 + CLUHP10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282520 chr15 20005905 20005935 - IGHD3OR15-3A IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000282527 chr3 97800733 97821884 - AC110491.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000282535 chr19 176896 177913 + AC092192.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282542 chr19 68403 69178 + AC008993.1 TEC 0 0 1 2 1 1 5 0 0 ENSG00000282556 chr11 6319141 6346309 + AC068733.3 processed_transcript 101927825 0 0 0 5 0 0 0 0 0 ENSG00000282564 chr1 230426491 230436822 + AL133516.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282572 chr7 19018 35489 - AC215522.2 processed_transcript 109 37 118 30 40 66 65 29 43 ENSG00000282591 chr19 76163 77686 - FAM138F lincRNA 641702 0 0 0 0 0 0 0 0 0 ENSG00000282599 chr15 20008402 20008432 - IGHD2OR15-2A IG_D_gene 0 0 0 0 0 0 0 0 0 ENSG00000282600 chr14 106728163 106728615 - IGHV3-69-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282602 chr22 35372174 35372621 + Z82244.2 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000282608 chr1 111499429 111503760 - ADORA3 protein_coding This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]. 140 GO:0005887, GO:0005886, integral component of plasma membrane, plasma membrane, GO:0001609, G protein-coupled adenosine receptor activity, GO:0032088, GO:0030336, GO:0009611, GO:0008285, GO:0008016, GO:0007190, GO:0007186, GO:0007165, GO:0006954, GO:0001973, negative regulation of NF-kappaB transcription factor activity, negative regulation of cell migration, response to wounding, negative regulation of cell population proliferation, regulation of heart contraction, activation of adenylate cyclase activity, G protein-coupled receptor signaling pathway, signal transduction, inflammatory response, G protein-coupled adenosine receptor signaling pathway, 39 55 110 1 4 0 0 10 2 ENSG00000282625 chr14 35219023 35219283 - MRPL57P8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282639 chr14 106088122 106088573 - IGHV3-64D IG_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000282651 chr14 106107972 106108464 - IGHV5-10-1 IG_V_gene 0 0 0 0 0 0 2 0 0 ENSG00000282668 chrX 9407861 9408638 + AC073488.10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282686 chr8 2495522 2499428 + AC245519.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282692 chr8 1018757 1019704 + AC129915.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282697 chrX 9409748 9410501 + AC073488.11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282718 chr1 212916787 212917577 + AC104333.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282728 chr11 101129077 101209591 + PGR-AS1 processed_transcript 0 0 0 1 0 0 0 0 0 ENSG00000282732 chr19 22215634 22215661 - AC073539.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282738 chr17 36161607 36162926 + AC243829.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282740 chr1 16739938 16750589 - AL021920.3 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000282742 chr4 6697861 6698809 - AC093323.3 TEC 0 0 0 1 10 2 3 0 6 ENSG00000282757 chr16 75693929 75701459 - DUXB protein_coding 100033411 GO:0005634, nucleus, GO:0000981, GO:0000977, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II transcription regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2 1 0 1 0 0 1 0 0 ENSG00000282759 chr8 891251 893112 - AC026950.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282772 chr10 102845761 102854513 - AL358790.1 antisense 40 25 51 22 16 27 17 20 4 ENSG00000282780 chr7 142788988 142789040 + TRBJ1-6 TR_J_gene 13 3 16 13 2 5 12 3 18 ENSG00000282785 chr2 110279606 110285681 + AC140479.6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282787 chr10 125162379 125162971 + AL157888.1 lincRNA 0 0 0 6 1 3 0 6 1 ENSG00000282793 chr15 101527581 101528349 - AC090164.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282798 chr19 69167 69972 + AC008993.2 TEC 0 0 0 0 0 0 1 0 0 ENSG00000282804 chr6 24797373 24809798 - AL512428.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000282807 chr19 71778 72718 + AC008993.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282815 chrX 125320120 125325214 + TEX13C protein_coding 100129520 GO:0046872, metal ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000282816 chr22 29480220 29481113 - AC000035.1 antisense 0 0 0 0 0 0 0 0 5 ENSG00000282826 chr20 28580709 28602664 - FRG1CP unprocessed_pseudogene 100289097 10 9 10 21 6 48 22 5 16 ENSG00000282828 chr2 49563398 49595122 + AC009971.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282834 chr11 95203727 95204033 + AP000787.3 processed_pseudogene 0 1 0 0 1 0 0 0 3 ENSG00000282836 chr2 196638422 196639497 - AC068544.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000282840 chrX 11668401 11757718 - AC004554.2 lincRNA 0 2 2 0 0 0 2 0 0 ENSG00000282842 chr20 29415264 29416911 - FRG2EP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282843 chr1 17193232 17201733 - AL590644.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282849 chr1 200478020 200483604 - AL359834.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000282850 chrX 119998087 120000088 - RHOXF1P2 unprocessed_pseudogene 0 2 8 0 0 0 0 0 0 ENSG00000282851 chr19 17405686 17419324 + BISPR lincRNA 105221694 51 59 76 60 70 74 57 79 71 ENSG00000282852 chr1 110256754 110256930 + AL137790.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282855 chr4 127809170 127809477 + AC093591.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282859 chr7 114560961 114561517 + AC003992.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000282860 chr3 127571232 127571838 - AC084035.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282863 chr10 78179174 78675109 + AC012560.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282864 chr13 91485793 91486870 + AL356118.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000282865 chr13 92239835 92241951 - AL157815.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000282870 chr20 29080390 29102761 + FRG1DP unprocessed_pseudogene 0 0 0 0 0 0 6 0 0 ENSG00000282872 chr1 26164161 26168581 - C1orf232 protein_coding 110806296 0 0 0 0 0 0 0 0 0 ENSG00000282875 chr10 133778258 133778498 - BX322534.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282876 chr20 43590009 43590596 - Z98752.4 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000282879 chr7 56736396 56736590 - AC095038.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282881 chr1 46532166 46543969 - AL136373.1 protein_coding 105378696 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000282882 chr17 9764188 9805073 + AC027045.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282885 chr14 49861176 49864326 - AL627171.2 lincRNA 8 9 4 4 5 3 17 6 19 ENSG00000282886 chr9 94347234 94347563 - AL691447.3 processed_pseudogene 1 2 3 1 2 6 1 2 1 ENSG00000282887 chr1 110472543 110474980 + AL358215.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282890 chr2 48809340 49419013 + AC009975.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282894 chr20 29324092 29325049 + DUX4L33 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282897 chr9 113614589 113617375 - AL162727.3 TEC 4 1 0 0 1 0 0 2 0 ENSG00000282898 chr1 79323769 79324852 - AL353651.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282904 chr4 47463784 47470477 + AC107398.4 bidirectional_promoter_lncRNA 107986277 0 0 0 0 0 0 0 0 0 ENSG00000282906 chr10 65123667 65141185 + AL513321.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282907 chr16 568837 576257 + Z98883.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000282909 chrY 18389297 18405046 - AC007241.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282911 chr20 29448517 29449306 - DUX4L35 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282912 chr3 75624899 75625188 + AC108724.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282914 chrX 87707579 87750883 - Z83818.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282915 chr10 72467749 72473304 - AC091769.2 sense_intronic 0 1 0 0 2 6 0 0 0 ENSG00000282916 chr11 92914272 92915604 - AP003171.3 lincRNA 105369431 0 0 0 0 0 0 0 0 0 ENSG00000282917 chr4 47831385 47896709 + AC107068.2 antisense 44 37 25 20 56 32 35 28 22 ENSG00000282921 chr20 29641778 29641976 + CFTRP2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282924 chr16 33723356 33763773 - AC136428.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282925 chr5 127588746 127590710 - AC010424.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282927 chr16 33484887 33485131 + AC136944.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282933 chrX 119942834 119992810 + RHOXF1P3 transcribed_unprocessed_pseudogene 68 41 83 17 35 20 28 27 22 ENSG00000282935 chr20 29410348 29411600 - DUX4L34 unprocessed_pseudogene 0 0 0 1 0 0 0 0 0 ENSG00000282936 chr17 6636780 6640316 - AC004706.3 TEC 11 13 13 15 13 9 9 7 23 ENSG00000282939 chr7 142352819 142353358 + TRBV7-2 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000282943 chr19 42977463 43171515 + AC004784.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000282944 chr2 130681228 130691691 + AC140481.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000282946 chr16 35528367 35529318 - AC018558.5 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282949 chr20 29321310 29321666 - PCMTD1P7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282950 chr3 120365993 120368326 - AC063952.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282951 chr19 40779780 40796943 - AC008537.4 antisense 149 169 171 138 230 223 145 163 217 ENSG00000282952 chr10 78538391 78551719 - AL583852.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282961 chr8 127079874 127092600 + PRNCR1 lincRNA 101867536 2 2 2 3 0 6 0 1 0 ENSG00000282964 chr12 102953289 102953835 - AC026108.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000282965 chr18 49815 73545 - AP001005.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282968 chr20 29430723 29432913 + AGGF1P10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282973 chr16 33345182 33345396 + AC141257.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000282975 chr3 127537937 127540485 + LINC02034 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282977 chr12 53464468 53465057 + PCBP2-OT1 non_coding 102157401 1 1 1 2 9 9 0 5 10 ENSG00000282978 chr3 101457241 101457732 - AC110994.2 processed_pseudogene 5 0 5 1 6 4 0 1 4 ENSG00000282980 chr17 5512040 5512537 - AC055839.1 processed_pseudogene 30 18 54 25 35 31 37 27 40 ENSG00000282987 chr3 21006730 21226305 - AC099753.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000282988 chr6 26195595 26199293 - AL031777.3 protein_coding 122 339 279 26 135 66 50 177 111 ENSG00000282989 chr8 101871830 101872549 - AP001206.1 processed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000282993 chr13 92658994 92659227 - AL356737.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000282994 chr4 190195738 190195978 - AC215524.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000282995 chr20 29480147 29497179 - FRG1EP unprocessed_pseudogene 1 0 5 1 1 7 1 5 2 ENSG00000282996 chr10 28303300 28307658 + AC022021.1 lincRNA 3 0 2 0 0 0 2 0 0 ENSG00000282997 chr13 91994518 91996523 + AL162456.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000282998 chr2 49202126 49451896 - AC009975.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283000 chr10 34969909 34975578 + AL392046.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283001 chr9 104520829 104537180 + AL450426.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000283003 chr16 9542045 9614894 + AC007221.2 lincRNA 0 0 0 3 0 0 0 0 0 ENSG00000283005 chr20 29746181 29748090 + CDC27P3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283010 chr6 98829967 98832508 - AL589826.2 lincRNA 0 0 0 0 0 0 0 0 3 ENSG00000283016 chr14 31320224 31320634 - AL139353.3 processed_pseudogene 0 2 4 2 5 0 1 6 7 ENSG00000283020 chr20 29878636 29879363 - DUX4L37 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283023 chr22 12602466 12626642 + FRG1GP unprocessed_pseudogene 0 0 0 3 0 0 0 3 0 ENSG00000283025 chr17 9805443 9811047 + AC027045.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283029 chr14 49586579 49586878 + AL139099.4 non_coding 0 0 0 0 0 0 0 0 0 ENSG00000283031 chr2 23667208 23685453 - AC009242.1 lincRNA 0 1 0 0 0 4 2 0 0 ENSG00000283033 chr17 16861146 16864223 + AC022596.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283036 chr3 44424134 44429529 + LINC01988 lincRNA 100506319 10 26 23 19 31 39 19 10 16 ENSG00000283039 chr1 44137821 44141631 - KLF18 protein_coding 105378952 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000283040 chr1 874529 877234 - AL669831.6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283041 chr7 133034607 133035920 - AC008038.1 processed_pseudogene 136 85 190 354 152 361 251 188 205 ENSG00000283043 chr4 60038269 60038586 + AC097655.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283044 chr1 207401691 207416236 - AL391597.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283045 chr17 44486153 44486815 - AC103703.1 sense_intronic 0 1 0 0 3 1 2 0 6 ENSG00000283047 chr22 10939388 10961338 - FRG1FP unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283050 chr4 119407967 119454638 - GTF2IP12 transcribed_unprocessed_pseudogene 101926918 40 49 119 74 92 216 100 57 187 ENSG00000283051 chr21 42777819 42779994 - LINC01668 lincRNA 101928311 0 0 0 1 3 8 0 0 0 ENSG00000283052 chr12 102304355 102463491 + LINC02456 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283053 chr10 90622143 90623611 - AL390862.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283057 chr16 71777603 71777834 - AC010653.3 processed_pseudogene 3 4 9 24 20 60 24 34 39 ENSG00000283058 chr2 50620963 50632993 + AC009234.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283061 chr7 12704 27234 + AC215522.3 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000283063 chr7 142349152 142349664 + TRBV6-2 TR_V_gene 0 0 0 0 0 0 0 0 0 ENSG00000283064 chr6 26160765 26172802 - AL353759.1 antisense 7 39 31 19 33 60 23 41 51 ENSG00000283065 chr16 34015260 34015477 + AC133561.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283069 chr20 29318824 29319579 + DUX4L32 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283071 chr14 103084210 103090027 + LBHD2 protein_coding 107984640 0 0 0 0 0 0 0 0 0 ENSG00000283072 chr20 22685391 22746107 + AL158175.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283073 chr12 54142591 54147485 + SMUG1-AS1 lincRNA 1 3 0 0 1 0 1 1 0 ENSG00000283075 chr13 22931537 22931999 + AL157931.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283076 chrY 17514502 17516715 + AC015978.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283078 chr20 62066830 62068437 + AL137077.2 lincRNA 5 2 3 35 26 25 7 12 23 ENSG00000283083 chr4 10737572 10749586 + LINC02498 lincRNA 102723525 0 0 0 0 0 0 0 0 0 ENSG00000283084 chr18 23485000 23485197 + AC026634.1 processed_pseudogene 0 1 1 0 0 0 0 0 0 ENSG00000283088 chr19 52880663 52962768 - AC010487.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283093 chrX 51681212 51682831 - CENPVL2 protein_coding 441495 GO:0046872, GO:0016846, metal ion binding, carbon-sulfur lyase activity, 0 0 0 0 0 0 0 0 0 ENSG00000283095 chr10 131891640 131895297 + FP565171.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283096 chr10 78176928 78178186 + AL731555.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283097 chr13 92446470 92449056 + AL159152.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000283098 chr14 36320753 36656163 + AL132857.2 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000283101 chr10 79906605 79907856 + BMS1P21 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283103 chr19 58310449 58326933 - AC010642.2 antisense 674 951 794 2004 3067 2388 1905 2253 1736 ENSG00000283108 chr19 9383581 9407055 - AC011451.3 processed_transcript 0 1 2 0 0 0 0 0 0 ENSG00000283110 chr16 33386105 33386349 + AC141257.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283117 chr7 10449820 10779944 - AC004949.1 lincRNA 79150 0 0 0 0 0 0 0 0 0 ENSG00000283118 chr2 144444848 144450450 + AC009951.2 antisense 1 1 11 0 3 0 2 2 3 ENSG00000283122 chr6 144004916 144008262 - HYMAI sense_overlapping 5 5 6 4 8 10 21 11 24 ENSG00000283123 chr20 29427400 29427883 - RARRES2P11 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283125 chr18 63207622 63208168 + AC022726.2 antisense 0 0 0 0 0 0 3 0 0 ENSG00000283126 chr13 54311972 54312048 - MIR1297 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302187 0 0 0 0 0 0 0 0 0 ENSG00000283128 chr7 155474256 155644406 - AC009403.2 processed_transcript 0 0 6 0 0 0 1 0 0 ENSG00000283130 chr13 88571654 88572312 + AL445984.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283131 chr4 68049706 68050478 - MTND2P41 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283132 chr2 89622213 89640635 - AC006453.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283133 chr15 41157175 41157342 - AC021753.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283136 chr1 43023549 43023637 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283138 chr12 3752518 3757842 + AC006207.1 antisense 1 0 0 1 1 0 5 0 0 ENSG00000283141 chr10 129784983 129806971 + AL157832.3 lincRNA 0 0 2 0 0 0 0 0 0 ENSG00000283142 chr20 45137706 45138976 - AL049767.1 transcribed_unprocessed_pseudogene 2 0 2 3 0 0 3 1 0 ENSG00000283145 chr22 21228760 21229138 - AP000550.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283146 chr9 93594841 93594894 + MIR548AU miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847045 0 0 0 0 0 0 0 0 0 ENSG00000283148 chr3 58174478 58178374 - AC137936.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283149 chr3 186581995 186597103 + AC068631.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283152 chr1 172138808 172138888 + MIR3120 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422882 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283154 chr3 158962235 159897366 + IQCJ-SCHIP1 protein_coding This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010]. 100505385 GO:0043194, GO:0030054, GO:0005886, GO:0005737, axon initial segment, cell junction, plasma membrane, cytoplasm, GO:0005515, protein binding, GO:0051494, GO:0035332, negative regulation of cytoskeleton organization, positive regulation of hippo signaling, 0 0 4 8 0 4 0 3 5 ENSG00000283155 chr5 140562443 140592123 - AC116353.4 processed_transcript 2 0 0 0 0 0 0 0 0 ENSG00000283156 chr4 56410516 56431548 + AC068620.3 transcribed_unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000283157 chr8 104699479 104703555 - AC012564.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283159 chr14 100875033 100875104 + MIR665 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126315 GO:1903231, GO:0003727, mRNA binding involved in posttranscriptional gene silencing, single-stranded RNA binding, GO:1904753, GO:1904706, GO:0090090, GO:0045668, GO:0035195, GO:0035195, GO:0031047, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of canonical Wnt signaling pathway, negative regulation of osteoblast differentiation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by RNA, 0 0 0 0 0 0 0 0 0 ENSG00000283160 chr17 8186945 8187004 + MIR4521 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616406 6 6 1 12 11 6 7 11 10 ENSG00000283162 chr9 38433696 38543880 + AL390726.6 transcribed_unprocessed_pseudogene 1 2 3 0 1 2 1 0 0 ENSG00000283164 chr2 230924567 230929919 + AC012507.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283165 chr14 104117418 104117503 - MIR203B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616173 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283166 chr1 237941452 237942492 - AL590396.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283167 chr2 110321402 110348941 + AC140479.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283170 chr14 101054306 101054381 + MIR382 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494331 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283172 chr8 123348034 123348130 - MIR548D1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693130 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0045669, GO:0045599, GO:0035195, positive regulation of osteoblast differentiation, negative regulation of fat cell differentiation, gene silencing by miRNA, 2 1 0 0 0 3 5 0 0 ENSG00000283174 chr1 237940762 237941061 - AL590396.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283175 chr3 187291272 187297933 + AC007920.2 antisense 101929130 GO:0005786, signal recognition particle, endoplasmic reticulum targeting, GO:0006617, SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition, 0 0 0 0 0 0 0 0 0 ENSG00000283176 chr8 133515506 133515745 + AC103706.2 processed_pseudogene 1 1 0 1 2 1 1 1 0 ENSG00000283178 chrX 71869763 71873295 - BX119927.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283180 chr16 2445392 2445457 + MIR6767 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465459 0 0 0 0 0 0 0 0 0 ENSG00000283183 chr4 577168 584866 + AC116565.1 lincRNA 105374338 0 0 0 0 0 0 0 0 0 ENSG00000283188 chr8 74705693 74705747 + MIR2052 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302260 0 0 0 0 0 0 0 0 0 ENSG00000283189 chr3 49416777 49429314 - AC104452.1 protein_coding 0 1 3 0 0 0 0 0 0 ENSG00000283193 chr4 113106863 113106955 + MIR1243 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302188 0 0 0 0 0 0 0 0 0 ENSG00000283195 chr14 106472791 106473000 - IGHVII-43-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283196 chr2 89542842 89585652 - AC006453.2 transcribed_unprocessed_pseudogene 645166 2 1 6 1 2 0 0 0 4 ENSG00000283197 chr8 133516184 133516268 + AC103706.3 processed_pseudogene 1 1 1 1 2 2 5 2 0 ENSG00000283199 chr13 113953705 113974079 - C13orf46 protein_coding 100507747 19 14 21 19 20 26 36 10 28 ENSG00000283200 chr8 128008898 128008956 + MIR1206 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302170 0 0 0 0 0 0 1 0 0 ENSG00000283201 chr19 23222755 23274221 - AC092329.3 protein_coding 440519 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000283202 chr2 230584815 230586715 - AC010149.2 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283203 chr2 176600980 176601052 - MIR1246 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302142 0 0 0 0 0 0 0 0 0 ENSG00000283204 chr2 64525513 64525565 + MIR4434 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616419 0 1 1 0 3 6 1 6 7 ENSG00000283205 chr9 87956214 87956883 + AL353572.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283206 chr20 63919449 63919520 + MIR941-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126329 GO:0005615, extracellular space, 2 3 1 2 1 4 3 0 0 ENSG00000283207 chr4 36426366 36426428 - MIR1255B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313806 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283208 chr13 76992078 77129589 + AC001226.2 protein_coding 50 60 59 27 25 25 23 29 28 ENSG00000283209 chr17 56803841 56804269 - AC106858.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000283210 chr8 10825373 10825443 - MIR1322 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302166 0 0 0 0 0 0 0 0 0 ENSG00000283211 chr9 40167392 40171329 + AL773545.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283212 chr19 45674932 45675008 - MIR642B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500845 GO:0070062, extracellular exosome, 0 0 1 0 0 0 0 0 0 ENSG00000283213 chr16 22806289 22813680 - AC130466.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283214 chr2 89662601 89662977 + AC006453.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283215 chr6 43844878 43852317 - LINC02537 lincRNA 285857 0 0 3 0 0 6 0 2 0 ENSG00000283217 chr11 43556436 43673393 + AC068205.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283218 chr18 30298910 30298960 + MIR302F miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302131 0 0 0 0 0 0 0 0 0 ENSG00000283219 chr4 17557892 17558045 - AC006160.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283221 chr16 9794637 9805571 + AC007218.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283222 chr2 64340759 64340839 + MIR4433A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616265 GO:0070062, extracellular exosome, 1 3 0 0 5 1 2 2 4 ENSG00000283225 chr22 27920526 27920611 + MIR3199-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422998 0 0 0 0 0 0 0 0 0 ENSG00000283227 chr1 152947154 152949258 + SPRR5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283228 chr2 151802651 151973949 - AC068547.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283230 chr7 57168725 57169074 + AC099654.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283232 chr10 100105754 100140151 - CYP2C23P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283234 chr1 21950679 21956871 - AL590556.2 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 2 0 ENSG00000283235 chr5 176173345 176199295 - AC139493.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283236 chr19 51860242 51863236 - AC074141.1 transcribed_unprocessed_pseudogene 1 2 0 2 0 7 4 0 2 ENSG00000283237 chr7 30289794 30289890 - MIR550B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500883 GO:0035195, gene silencing by miRNA, 0 1 0 0 0 2 0 0 3 ENSG00000283238 chr2 188978093 188978161 - MIR1245B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616324 0 0 0 0 0 0 0 0 0 ENSG00000283239 chr8 1763888 1958627 + KBTBD11-OT1 protein_coding 104266957 0 0 0 0 0 0 0 0 0 ENSG00000283240 chr12 16661766 16788375 + AC007529.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283242 chrX 76919273 76919360 - MIR384 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494333 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283246 chr9 40187792 40193921 - MEP1AP1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283247 chr7 45859994 45873082 - AC096582.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283249 chr15 65843484 65843558 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283251 chr19 49056088 49058761 - AC008687.7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283255 chr1 168401483 168407274 - AL022100.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283256 chr12 31366288 31366366 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283257 chr11 67538899 67540584 + AP001184.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283258 chr16 54628963 54657662 - AC007491.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283259 chr1 2773603 2776473 + AC242022.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283262 chr2 88367793 88367862 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283265 chr6 137693068 137700415 + AL356234.3 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000283267 chr7 90316503 90321308 - FAM237B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283268 chr11 62832319 62832803 - TEX54 protein_coding 4 5 3 16 8 18 9 1 19 ENSG00000283269 chr19 28683071 28727777 - AC005524.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283270 chr2 88811186 88825207 - AC244205.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283271 chr4 13051342 13051411 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283273 chr15 22714342 22717727 + AC138649.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283274 chr14 16057472 16057622 + RF00002 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000283275 chr4 28819582 28819668 + MIR4275 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422937 0 0 0 0 0 0 0 0 0 ENSG00000283278 chr7 71307674 71307768 + MIR3914-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500920 0 0 0 0 0 0 0 0 0 ENSG00000283279 chr14 101039690 101039755 + MIR376C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442913 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283281 chr4 21464700 21464758 - MIR7978 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465859 0 0 0 0 0 0 0 0 0 ENSG00000283283 chr2 110022447 110050064 - AC013268.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283285 chr19 51914675 51917703 - AC011460.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283286 chr5 40415137 40431491 + AC093277.1 lincRNA 2 3 1 4 0 0 0 4 0 ENSG00000283288 chr5 139470778 139474772 + SMIM33 protein_coding 111064649 GO:0016021, integral component of membrane, 1 1 0 0 0 0 0 0 0 ENSG00000283289 chr19 53711002 53711088 + MIR524 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574478 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283290 chr14 24352057 24352157 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283291 chr20 29741510 29741661 - RF00002 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000283293 chr6 52995621 52995948 + RN7SK snRNA 125050 GO:0120259, 7SK snRNP, GO:0034244, negative regulation of transcription elongation from RNA polymerase II promoter, 0 0 0 0 0 0 0 0 0 ENSG00000283294 chr18 14225224 14342505 + AP005212.4 processed_transcript 0 0 0 2 0 4 2 0 0 ENSG00000283296 chr1 112461770 112461833 - MIR4256 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422976 0 0 0 0 0 0 0 0 0 ENSG00000283297 chr12 2849039 2857083 - TEX52 protein_coding 101929469 1 4 5 10 2 3 9 2 3 ENSG00000283298 chr3 67225464 67225527 + MIR4272 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422941 0 0 0 0 0 0 0 0 0 ENSG00000283300 chr21 28743208 28743291 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283301 chr17 6655449 6655502 + MIR4520-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616466 0 2 1 0 6 0 1 0 2 ENSG00000283303 chr2 131363364 131364881 + AC073869.5 antisense 2 3 2 0 1 0 0 0 0 ENSG00000283304 chr16 54542808 54559100 - LINC02183 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283307 chr11 57037534 57038436 + OR5AK4P unprocessed_pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 219525 0 0 0 0 0 0 0 0 0 ENSG00000283311 chr7 57172772 57173283 - MTND6P29 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283312 chr2 231493708 231495299 - AC017104.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283313 chr4 70848136 70848218 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283314 chr4 26070754 26104258 + LINC02357 lincRNA 105374540 0 0 0 0 0 5 0 0 0 ENSG00000283317 chr1 161433444 161440996 - AL831711.1 lincRNA 3 1 2 0 0 0 0 0 6 ENSG00000283320 chr20 3917502 3917563 - MIR103B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302282 GO:0035195, gene silencing by miRNA, 5 4 9 4 12 15 0 16 21 ENSG00000283321 chr7 17299295 17467234 + AC019117.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283324 chr1 150887136 150913292 + CTXND2 protein_coding 0 0 0 0 0 5 0 0 2 ENSG00000283326 chr11 67045643 67045708 + MIR6860 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465518 0 0 0 0 0 0 0 0 0 ENSG00000283327 chr8 24953796 24953867 - MIR6841 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465506 0 0 0 0 0 0 0 0 0 ENSG00000283329 chr9 38694263 38720428 - FAM240B protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283330 chr19 53734877 53734963 + MIR518D miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574489 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0035195, GO:0008150, gene silencing by miRNA, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000283333 chr3 176515103 176515151 + MIR7977 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465858 0 0 0 0 0 0 0 0 0 ENSG00000283334 chrX 55451495 55451582 - MIR4536-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616155 0 0 0 0 0 0 0 0 0 ENSG00000283335 chr9 128392621 128392708 + MIR219B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616335 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283337 chr10 102868421 102868519 + RF00026 snRNA 0 2 6 0 6 7 1 1 0 ENSG00000283338 chr11 47323983 47324181 + AC090582.1 unprocessed_pseudogene 1 0 0 0 0 0 1 0 0 ENSG00000283339 chr7 155074599 155074748 + AC093726.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283340 chr1 170151378 170151462 - MIR3119-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422839 0 0 0 0 0 0 0 0 0 ENSG00000283341 chr11 43578889 43840030 + AC068205.2 processed_transcript 3 4 2 3 2 0 3 4 1 ENSG00000283342 chr1 147099482 147124285 - AC241584.2 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000283343 chr18 50126499 50126563 - MIR4320 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422865 0 0 0 0 0 0 0 0 0 ENSG00000283345 chr15 30507377 30513698 + AC127502.3 unprocessed_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000283346 chr16 15134075 15134145 - MIR6511B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465985 0 0 0 0 0 0 0 0 0 ENSG00000283347 chr13 114175485 114215835 - AL160396.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283349 chrX 64405473 64406136 + PFN5P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283351 chr9 91636264 91636345 - MIR3910-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500902 0 0 0 0 0 0 0 0 0 ENSG00000283352 chr6 57919912 57961382 - LINC00680-GUSBP4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283354 chr1 108495475 108501144 - AL392088.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283355 chr4 184014035 184016382 + AC074194.2 TEC 0 0 0 0 0 1 0 0 0 ENSG00000283356 chr1 5554747 5554881 + Z97988.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283359 chr5 82840155 82840224 + MIR3977 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616297 0 0 0 0 0 0 0 0 0 ENSG00000283360 chr1 161403409 161470523 - AL592295.3 lincRNA 6 8 8 3 5 3 0 10 5 ENSG00000283361 chr13 114154691 114223084 + CFAP97D2 protein_coding 101929355 1 0 0 2 0 5 0 0 1 ENSG00000283364 chr17 28861371 28861438 + MIR451B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616273 GO:0035195, gene silencing by miRNA, 1 0 0 0 4 0 0 0 0 ENSG00000283365 chr16 49954985 49968730 - AC007603.3 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283366 chr22 19014353 19014506 + AC000095.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283367 chr3 91356755 91356914 + RF01699 sRNA 0 0 0 0 0 0 0 0 0 ENSG00000283369 chr1 247607126 247607201 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283371 chr13 86266842 86266926 - FO624990.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283372 chr15 98026042 98026139 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283375 chr11 43855913 43856404 - AC087521.4 antisense 19 75 48 20 77 49 33 81 25 ENSG00000283376 chr17 68691809 68716064 - AC011591.2 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283377 chr1 237942698 237943653 - AL590396.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283378 chr9 61330717 61453030 + CNTNAP3C protein_coding 100289279 163 186 530 62 133 203 186 140 110 ENSG00000283379 chr4 159128805 159128891 + MIR3688-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616303 1 0 2 0 0 0 0 0 0 ENSG00000283380 chrX 20769718 21374265 - AL807742.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283381 chr17 33692229 33692484 + AC024614.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283383 chr4 183762115 183765721 - AC108477.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283384 chr13 108335354 108448316 + AL138694.1 lincRNA 17 25 14 42 28 30 29 15 65 ENSG00000283385 chr17 69099564 69099632 - MIR4524A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616316 0 0 0 0 0 0 0 0 0 ENSG00000283386 chr8 6745168 6745240 - MIR4659B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616372 0 0 0 0 0 0 0 0 0 ENSG00000283389 chr12 121897583 121897826 - RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000283390 chr3 186596976 186597200 + AC068631.3 processed_pseudogene 5 2 2 2 5 2 2 4 4 ENSG00000283392 chr3 14602035 14641443 + AC090952.2 lincRNA 1 0 0 0 0 2 0 4 3 ENSG00000283393 chr11 43718676 43719143 + AC068205.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283394 chr2 6650373 6650439 + MIR7515 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466235 0 0 0 0 0 0 0 0 0 ENSG00000283398 chr7 76960571 76978658 + AC114737.3 processed_transcript 0 0 0 0 0 0 0 0 1 ENSG00000283399 chr16 20711473 20732990 + AC004381.2 unprocessed_pseudogene 21 32 29 12 21 21 15 28 27 ENSG00000283400 chrX 20443326 20492349 + AL807740.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283402 chr8 18849258 18849707 + AC087821.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283403 chr19 28435388 28727680 - AC005394.2 processed_transcript 100420587 0 0 0 0 0 0 0 0 0 ENSG00000283405 chr20 21089696 21090509 + AL121759.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283408 chr6 18522739 18674001 + MIR548A1HG lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283409 chr6 134979338 134979432 - MIR3662 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500880 1 0 0 0 0 0 0 0 0 ENSG00000283411 chr9 137605744 137711018 + AL590627.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283412 chr11 87648489 87648549 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283413 chr5 159484130 159511687 - AC008703.1 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000283414 chr1 43716467 43716556 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283415 chr11 6821942 6926877 - AC087280.2 lincRNA 0 0 0 0 0 2 0 0 0 ENSG00000283416 chr16 85741621 85741700 - MIR1910 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302261 0 0 0 0 0 0 0 0 0 ENSG00000283417 chr17 33791838 33816761 - AC024614.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283418 chr3 139388277 139388364 + RF00026 snRNA 4 2 5 5 0 1 0 0 0 ENSG00000283419 chr7 5711840 5711910 - MIR6874 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466203 0 0 0 0 0 0 0 0 0 ENSG00000283420 chr5 6827853 6827921 - MIR4278 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422999 0 0 0 0 0 0 0 0 0 ENSG00000283421 chr16 21299903 21300506 + AF001550.2 unitary_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000283422 chr12 96160692 96172126 - LINC02452 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283423 chr16 55321575 55322686 - AC109462.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283426 chr3 195701618 195711643 + SMBD1P transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283427 chr2 89533185 89547106 + AC006453.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283428 chr2 224703764 224716365 - CCDC195 protein_coding 0 0 0 2 0 0 0 0 0 ENSG00000283429 chr12 9239467 9239551 - MIR1244-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422872 0 1 2 5 3 3 3 4 3 ENSG00000283431 chr7 57163168 57166024 - AC099654.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283432 chr4 135315418 135315522 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283433 chr20 29874059 29874177 + RNA5SP532 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000283434 chr3 88338413 88467562 + CSNKA2IP protein_coding 111064647 GO:0005634, nucleus, 0 0 0 0 0 0 0 0 0 ENSG00000283435 chrX 85835780 85835858 + MIR1321 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302171 0 0 0 0 0 0 0 0 0 ENSG00000283436 chr2 156655224 156695659 + LINC01958 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283438 chr22 23132730 23133005 - RF00017 misc_RNA 3 3 1 1 1 0 0 0 4 ENSG00000283439 chr17 7428863 7432762 + SPEM3 protein_coding 107983988 GO:0016021, integral component of membrane, 0 0 0 0 0 0 0 0 0 ENSG00000283440 chr20 44656451 44663498 - LINC01260 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283441 chr20 34990400 34990472 - MIR499B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616134 GO:0035195, gene silencing by miRNA, 2 1 1 5 3 0 3 4 0 ENSG00000283442 chr1 155894281 155894386 + RF00015 snRNA 0 0 0 0 3 0 2 0 0 ENSG00000283443 chr20 30545601 30551470 + AC018688.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283444 chr7 37796058 37796888 + GPR141BP unitary_pseudogene 4 1 5 2 1 7 0 1 1 ENSG00000283445 chr1 58715609 58771295 + AL136985.3 lincRNA 1 1 0 0 1 1 0 0 0 ENSG00000283446 chrX 85143427 85156444 + Z99571.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283450 chr8 41660444 41660507 + MIR486-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465696 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283451 chr2 230138601 230138783 + AC009950.2 unitary_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000283452 chr18 75086368 75086514 + RF01699 sRNA 0 0 0 0 0 0 0 0 0 ENSG00000283453 chr6 60281444 60546660 + AC244258.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 2 0 0 0 ENSG00000283455 chr19 53698385 53698471 + MIR523 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574471 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283456 chr10 19747172 19747435 - MTND1P37 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283457 chr16 73794079 73809733 + AC087565.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283458 chr18 39314240 39328008 + AC011139.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283459 chr12 114894632 114898529 - AC009804.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283461 chr7 32732981 32733077 - MIR550B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500830 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283462 chr5 103880129 103891393 - AC008505.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283463 chrX 149929645 149931287 + HSFX4 protein_coding 101927685 GO:0005634, nucleus, GO:0003700, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 2 1 5 15 5 3 30 8 5 ENSG00000283464 chr14 106481424 106481706 - AC244452.3 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283468 chr4 163093574 163093628 - MIR4454 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616234 0 0 0 0 0 0 0 0 0 ENSG00000283469 chr2 206783234 206783308 - MIR3130-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422993 0 0 0 0 0 0 0 0 0 ENSG00000283471 chr16 56904264 56904353 + MIR6863 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466752 0 0 0 0 0 0 0 0 0 ENSG00000283473 chr3 46612435 46626543 + FAM240A protein_coding 100132146 0 0 0 0 0 0 0 0 0 ENSG00000283474 chr3 170423103 170423162 + MIR6828 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465497 0 0 0 0 0 0 0 0 0 ENSG00000283475 chr12 12111952 12112036 + MIR1244-4 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504734 0 0 0 0 0 0 0 0 0 ENSG00000283476 chr12 69273157 69273218 - MIR1279 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302182 6 6 20 19 8 4 9 7 10 ENSG00000283477 chr1 43838622 43838683 + MIR6079 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464830 0 0 0 0 0 0 0 0 0 ENSG00000283479 chr19 35407770 35408493 + AC002511.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283480 chr6 21528739 21595593 - AL512380.2 antisense 0 0 0 0 0 1 0 0 0 ENSG00000283481 chr7 57169143 57169412 + MTND4LP32 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283483 chr11 43733761 43734564 + AC068205.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283484 chr15 88611847 88611924 - MIR3529 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616238 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283486 chr9 38540569 38577207 - FAM95C protein_coding 100289137 1 4 4 6 2 7 4 3 4 ENSG00000283487 chr13 96427229 96427292 + MIR4501 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616137 0 0 0 0 0 0 0 0 0 ENSG00000283489 chr11 132525809 132525887 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283490 chr19 53708735 53708835 + MIR518C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574477 GO:0005575, cellular_component, GO:1903231, GO:0003674, mRNA binding involved in posttranscriptional gene silencing, molecular_function, GO:0035195, GO:0035195, GO:0008150, gene silencing by miRNA, gene silencing by miRNA, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000283491 chr2 231497090 231507256 - AC017104.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283492 chr18 11654885 11654941 - MIR7153 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465690 0 0 0 0 0 0 0 0 0 ENSG00000283493 chrX 13590292 13590346 + MIR6086 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466519 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0035278, miRNA mediated inhibition of translation, 0 0 0 0 0 0 0 0 0 ENSG00000283496 chr10 133309410 133352529 + ZNF511-PRAP1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283497 chr11 46451807 46451887 + MIR3160-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422825 0 0 0 0 0 0 0 0 0 ENSG00000283498 chr5 118974586 118974670 + MIR1244-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422885 5 3 7 7 8 13 10 7 8 ENSG00000283499 chr4 48109353 48109410 - RF00026 snRNA 0 0 0 1 0 0 1 0 0 ENSG00000283502 chr2 47781379 47781465 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283503 chr18 39841809 39896298 + LINC01902 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283504 chr7 148473599 148503458 - AC006974.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283505 chr8 74548550 74548609 - MIR5681B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847091 0 0 0 0 0 0 0 0 0 ENSG00000283506 chr2 140586626 140586685 - MIR7157 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465692 0 0 0 0 0 0 0 0 0 ENSG00000283507 chr12 112695034 112695176 - MIR1302-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302227 0 0 0 0 0 0 0 0 0 ENSG00000283509 chr3 129819777 129819876 + RF00026 snRNA 2 1 2 0 1 6 2 1 4 ENSG00000283511 chr3 58180009 58187495 + AC137936.2 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283513 chr20 63919561 63919632 + MIR941-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126352 0 3 1 0 0 0 1 1 0 ENSG00000283514 chr18 35591737 35591806 + MIR3975 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616257 0 0 0 0 0 0 0 0 0 ENSG00000283515 chr19 58228914 58315183 + AC020915.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283516 chr16 8881634 8885351 + AC022167.5 protein_coding 101929989 GO:0016020, membrane, GO:0046872, metal ion binding, 0 2 0 0 2 0 0 0 0 ENSG00000283517 chr17 71829870 71871750 - AC005144.1 lincRNA 0 0 0 0 0 0 2 0 0 ENSG00000283518 chr1 214051194 214187773 - AL592287.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283519 chr14 75270700 75270780 - RF00004 snRNA 0 0 0 0 0 5 0 3 0 ENSG00000283522 chr8 95072914 95072993 + MIR3150A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422964 0 0 0 0 0 0 0 0 0 ENSG00000283523 chr8 12727237 12727299 + MIR3926-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500838 0 0 0 0 4 0 1 0 0 ENSG00000283524 chr15 21971706 21972645 + OR11J7P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283525 chr19 43690002 43700508 + AC005622.1 transcribed_unprocessed_pseudogene 105372412 11 19 64 12 35 53 22 19 52 ENSG00000283526 chr9 131545514 131558620 + PRRT1B protein_coding 642515 GO:0016021, GO:0016020, integral component of membrane, membrane, 3 14 0 4 11 4 6 12 7 ENSG00000283527 chr20 35769785 35769867 - RF00026 snRNA 0 0 0 0 2 2 0 1 2 ENSG00000283528 chr7 143639230 143647646 - TCAF2C protein_coding 1 0 4 2 0 9 0 0 1 ENSG00000283529 chr20 49318337 49441654 + AL035685.1 transcribed_unprocessed_pseudogene 19 13 19 5 11 18 22 13 11 ENSG00000283532 chr18 6374361 6374425 - MIR4317 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422840 0 0 0 0 0 0 0 0 0 ENSG00000283534 chrX 74218549 74218618 + MIR374C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500807 GO:0035195, gene silencing by miRNA, 2 5 4 5 4 3 6 3 3 ENSG00000283535 chr22 16844399 16846357 + AC007064.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283536 chr12 53241889 53242723 + AC021072.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283537 chr7 143620943 143645675 + AC073264.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000283538 chr17 62910021 62968549 - AC005972.3 lincRNA 7 4 13 3 4 5 3 1 1 ENSG00000283540 chr19 53682159 53682245 + MIR520F miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574464 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283541 chr9 61063752 61113954 - BX005040.4 unprocessed_pseudogene 1 0 1 0 0 0 0 0 0 ENSG00000283542 chr12 121053732 121059670 - OASL2P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283544 chr3 91374236 91513775 - ABBA01000935.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283545 chr12 45554590 45554659 - RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283546 chrX 21131496 21163726 + BX088723.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283547 chr7 57167200 57167880 + AC099654.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283549 chr7 7640752 8004053 + AC007161.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283550 chr4 125507259 125507307 + MIR2054 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302267 0 0 0 0 0 0 0 0 0 ENSG00000283551 chr10 68755172 68755238 + SNORD98 snoRNA 692211 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000283554 chr13 42339188 42485956 + LINC02341 lincRNA 105370177 0 0 0 0 0 0 0 0 0 ENSG00000283555 chr8 109873913 109874018 - RF00004 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283556 chr14 101040436 101040535 + MIR376B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574435 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283558 chr10 101601417 101601497 - MIR3158-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423033 0 0 0 0 0 0 0 0 0 ENSG00000283559 chr5 176143450 176156989 - AC139491.6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283561 chr14 101040069 101040148 + MIR376A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 664615 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283562 chr14 106478006 106478393 - IGHVIII-44 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283563 chr3 28349178 29767537 + AC098650.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283564 chr16 72376704 72376760 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283566 chr17 21773754 21783465 - AC243725.1 unprocessed_pseudogene 0 0 0 0 0 0 0 1 0 ENSG00000283567 chr19 55463002 55464707 - C19orf85 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283568 chr20 29297095 29297246 - RF00002 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000283569 chr2 151368334 151368411 - MIR4773-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616418 0 0 0 0 0 1 0 0 0 ENSG00000283571 chr14 106750289 106750594 - AC245369.1 IG_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283572 chr1 3127975 3128035 + MIR4251 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422968 0 0 0 0 0 0 0 0 0 ENSG00000283573 chr6 43803193 43842625 + AL157371.2 lincRNA 0 4 2 5 8 6 6 2 2 ENSG00000283575 chr1 180758722 180758817 + RF00026 snRNA 0 1 0 0 0 0 0 0 0 ENSG00000283576 chr8 1726273 1726557 + AC100810.6 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283578 chr10 89786610 89787107 + MTND5P42 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283579 chr13 26965967 26991996 - AL160035.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000283580 chr1 42767292 42794493 + AC098484.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283582 chr12 22116629 22134851 - SULT6B2P unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283583 chr22 18980695 18981325 - AC007326.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283584 chr16 7431217 7431296 + RF00537 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000283586 chr2 68921248 68926834 + GKN3P polymorphic_pseudogene 0 1 0 0 4 0 0 0 1 ENSG00000283587 chr12 2726400 2727050 - AC092471.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283588 chr14 101040782 101040849 + MIR376A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494325 0 0 0 0 0 0 0 0 0 ENSG00000283591 chr2 33418516 33418564 + MIR4430 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616136 0 0 0 0 0 0 0 0 0 ENSG00000283592 chr20 29575060 29575171 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000283594 chrX 72912615 72913401 + FAM236C protein_coding 109729126 0 0 0 0 0 0 0 0 0 ENSG00000283597 chr15 98437162 98547728 - FAM169B protein_coding 283777 9 6 14 22 27 44 19 13 21 ENSG00000283598 chr1 171101739 171101798 + MIR1295B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847009 0 0 0 0 0 0 0 0 0 ENSG00000283599 chrX 71667542 71671524 + BX276092.9 protein_coding 101059915 0 0 0 0 0 0 0 0 0 ENSG00000283601 chr11 60577856 60608418 + AP003399.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283602 chr5 140569962 140594570 - AC116353.5 transcribed_unitary_pseudogene 51 40 68 1 19 2 10 15 4 ENSG00000283603 chr12 25874020 25874079 - MIR4302 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422897 0 0 0 0 0 0 0 0 0 ENSG00000283604 chr17 81125883 81125949 - MIR338 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442906 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1900016, GO:0035195, GO:0035195, GO:0032715, GO:0030336, GO:0010629, negative regulation of cytokine production involved in inflammatory response, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-6 production, negative regulation of cell migration, negative regulation of gene expression, 9 16 13 14 3 2 4 10 19 ENSG00000283605 chr11 50018798 50019695 + OR4C48P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283607 chr14 106354448 106354704 - IGHVII-30-21 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283608 chr6 149246095 149255415 + AL031056.2 lincRNA 0 2 1 0 1 5 0 0 2 ENSG00000283609 chr8 124821985 124822051 + MIR4662A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616221 0 0 0 0 0 0 0 0 0 ENSG00000283611 chr1 9950572 9960787 - AL357140.4 unitary_pseudogene 113391335 4 2 4 0 0 4 4 3 1 ENSG00000283612 chr5 168560904 168560965 + MIR103B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302238 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283613 chr18 54412763 54424632 + AC090897.2 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283614 chr15 51314032 51314107 - MIR7973-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465855 0 0 0 0 0 0 0 0 0 ENSG00000283615 chr18 39622123 39622175 - MIR924 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126323 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283616 chr6 6169334 6169409 + MIR5683 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847034 0 0 0 0 0 0 0 0 0 ENSG00000283618 chr7 30115845 30115994 - RF01699 sRNA 0 0 0 0 0 0 0 0 0 ENSG00000283621 chr12 57748618 57748682 - MIR6759 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466729 0 0 1 0 0 1 0 0 0 ENSG00000283622 chrX 78901194 78901249 - MIR4328 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422932 0 0 0 0 0 0 0 0 0 ENSG00000283625 chr3 184499484 184500370 - AC128714.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283626 chr7 57190461 57191138 + AC099654.8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283627 chr14 89013386 89025807 + AL137785.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283629 chr14 76131707 76152627 - AC016526.4 antisense 8 10 14 4 6 6 11 13 11 ENSG00000283631 chrX 20311838 20317783 - AL928596.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283632 chr19 45212621 45245431 - EXOC3L2 protein_coding The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]. 90332 GO:0005575, GO:0000145, cellular_component, exocyst, GO:0005515, GO:0003674, GO:0000149, protein binding, molecular_function, SNARE binding, GO:0051601, GO:0008150, GO:0006887, exocyst localization, biological_process, exocytosis, 0 2 3 1 3 0 5 3 5 ENSG00000283633 chr22 16601911 16615111 + AP000547.3 lincRNA 1 3 43 3 2 59 6 4 22 ENSG00000283634 chr10 6152207 6152262 - MIR3155B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100628560 1 0 0 0 0 0 0 0 0 ENSG00000283635 chr2 238289127 238300185 + AC012485.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283636 chr2 63168600 63168847 + RF00017 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000283637 chr2 212926257 212926336 - MIR4776-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616472 0 0 0 0 0 0 0 0 0 ENSG00000283638 chrX 134168911 134174089 - AC002407.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283639 chr2 218823090 218823154 + MIR9500 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 103504730 0 0 0 1 0 0 0 3 0 ENSG00000283644 chrX 135309480 135309659 + ETDC protein_coding 110806299 1 0 1 0 0 0 3 1 0 ENSG00000283645 chr18 39676719 39676777 - MIR5583-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100846997 0 0 0 0 0 0 0 0 0 ENSG00000283646 chr3 46416524 46423591 - LINC02009 lincRNA 105377068 0 1 3 8 6 9 9 7 2 ENSG00000283647 chr9 14790635 14791158 + AL512643.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283648 chr7 148543677 148572177 - AC006974.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283653 chr5 148362777 148372152 + AC091948.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 5 ENSG00000283654 chr14 23099065 23104992 - LMLN2 protein_coding 100128908 GO:0016021, GO:0005737, integral component of membrane, cytoplasm, GO:0046872, GO:0008233, GO:0004222, metal ion binding, peptidase activity, metalloendopeptidase activity, GO:0007155, GO:0006508, cell adhesion, proteolysis, 1 0 0 5 2 0 0 1 0 ENSG00000283656 chr10 113777993 113778054 - MIR4483 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616162 0 0 0 0 0 0 0 0 0 ENSG00000283657 chr2 166414489 166414729 + AC074101.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283659 chr2 89666033 89683204 + AC006453.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283662 chr16 28258686 28292173 + AC138904.3 lincRNA 0 0 0 0 0 3 0 0 0 ENSG00000283663 chr19 49055793 49065076 - AC008687.8 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283664 chr10 89063336 89063410 + MIR4679-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616128 0 0 0 0 0 0 0 0 0 ENSG00000283665 chr12 17673299 17673394 + MIR3974 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616279 0 0 0 0 0 0 0 0 0 ENSG00000283666 chr4 29510635 29510737 + RF00026 snRNA 0 0 0 0 0 0 0 0 0 ENSG00000283667 chr18 63966406 63970181 - AC009802.1 antisense 6 9 5 4 3 15 3 3 6 ENSG00000283669 chr3 112321140 112321443 + AC112487.2 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283672 chr10 87503881 87503954 + MIR4678 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616296 0 0 0 0 0 0 0 0 0 ENSG00000283673 chr19 44653686 44653732 - MIR4531 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616355 0 0 0 0 0 0 0 0 0 ENSG00000283674 chr8 12467693 12665588 - AC068587.4 processed_transcript 729732 7 6 7 25 4 11 24 11 17 ENSG00000283675 chr17 19420279 19420342 + RF00537 snoRNA 0 0 0 0 0 0 0 0 0 ENSG00000283676 chr1 148334479 148334554 - MIR5087 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847044 0 1 0 0 0 0 0 0 0 ENSG00000283677 chr12 69584723 69584822 + MIR3913-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500868 0 0 0 0 0 0 0 0 0 ENSG00000283678 chr5 132217849 132217918 - MIR6830 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465498 0 0 0 0 0 0 0 0 0 ENSG00000283679 chr19 7011884 7012679 + AC025278.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283680 chr15 22030900 22031846 - AC134980.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283682 chr4 76575551 76575626 + MIR548AH miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616254 0 0 0 0 0 0 0 0 0 ENSG00000283683 chr1 171600621 171638799 + MYOCOS protein_coding 110806290 1 0 0 1 0 0 0 0 0 ENSG00000283684 chr2 109937438 109985124 + AC013268.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283685 chr19 53751211 53751297 + MIR522 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574495 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283686 chr8 142797624 142806142 - AC083841.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283688 chr10 112299612 112299688 - MIR6715B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465427 0 0 0 0 0 0 0 0 0 ENSG00000283689 chr16 54285604 54289568 + AC018553.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283690 chr1 62078789 62078856 - MIR3116-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422946 0 0 0 0 0 0 0 0 0 ENSG00000283691 chr11 118994560 118994655 + RF00019 misc_RNA 0 0 0 0 0 0 0 0 0 ENSG00000283692 chrX 137573752 137981763 + Z96074.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283694 chrX 153981098 153981176 - MIR3202-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422877 0 0 0 0 0 0 0 0 0 ENSG00000283695 chr19 52865369 52865429 - AC010487.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283696 chr1 161399409 161422424 + AL592295.4 lincRNA 12 12 12 10 14 26 5 13 20 ENSG00000283697 chrX 149548210 149549932 - HSFX3 protein_coding 101928917 GO:0005634, GO:0000785, nucleus, chromatin, GO:0003700, GO:0000981, GO:0000978, DNA-binding transcription factor activity, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 2 0 3 4 5 4 1 7 ENSG00000283698 chr2 112439312 112469687 - AC012442.3 transcribed_unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283699 chr10 12653138 12653197 - MIR4481 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616320 GO:1903561, extracellular vesicle, 6 5 11 3 10 7 1 8 6 ENSG00000283701 chr1 155346350 155346445 - MIR555 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693140 0 1 0 0 0 0 0 0 0 ENSG00000283703 chr11 125946056 125958647 + VSIG10L2 protein_coding 338667 GO:0005911, GO:0005887, cell-cell junction, integral component of plasma membrane, GO:0050839, cell adhesion molecule binding, GO:0098609, cell-cell adhesion, 0 0 1 1 0 0 0 0 0 ENSG00000283704 chr11 119018944 119019012 + MIR3656 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000283705 chr13 91351314 91351391 + MIR92A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407048 GO:1903561, GO:0005737, GO:0005615, extracellular vesicle, cytoplasm, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1904999, GO:1904996, GO:1904996, GO:1904989, GO:1904905, GO:1904685, GO:1904685, GO:1903672, GO:1903671, GO:1903206, GO:0097756, GO:0097699, GO:0097533, GO:0071639, GO:0071404, GO:0071398, GO:0050729, GO:0050728, GO:0046329, GO:0045944, GO:0045019, GO:0043537, GO:0043508, GO:0043507, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0034392, GO:0032966, GO:0032755, GO:0016525, GO:0010940, GO:0010629, GO:0010628, GO:0010628, GO:0008016, GO:0002675, GO:0001937, positive regulation of leukocyte adhesion to arterial endothelial cell, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of leukocyte adhesion to vascular endothelial cell, positive regulation of endothelial cell activation, negative regulation of endothelial cell-matrix adhesion via fibronectin, positive regulation of metalloendopeptidase activity, positive regulation of metalloendopeptidase activity, positive regulation of sprouting angiogenesis, negative regulation of sprouting angiogenesis, negative regulation of hydrogen peroxide-induced cell death, negative regulation of blood vessel diameter, vascular endothelial cell response to fluid shear stress, cellular stress response to acid chemical, positive regulation of monocyte chemotactic protein-1 production, cellular response to low-density lipoprotein particle stimulus, cellular response to fatty acid, positive regulation of inflammatory response, negative regulation of inflammatory response, negative regulation of JNK cascade, positive regulation of transcription by RNA polymerase II, negative regulation of nitric oxide biosynthetic process, negative regulation of blood vessel endothelial cell migration, negative regulation of JUN kinase activity, positive regulation of JUN kinase activity, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of smooth muscle cell apoptotic process, negative regulation of collagen biosynthetic process, positive regulation of interleukin-6 production, negative regulation of angiogenesis, positive regulation of necrotic cell death, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, regulation of heart contraction, positive regulation of acute inflammatory response, negative regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000283706 chr3 46712115 46717907 - PRSS50 protein_coding 29122 GO:0005783, GO:0005783, GO:0005737, endoplasmic reticulum, endoplasmic reticulum, cytoplasm, GO:0004298, GO:0004298, GO:0004252, threonine-type endopeptidase activity, threonine-type endopeptidase activity, serine-type endopeptidase activity, GO:0006508, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000283709 chr10 26931206 26944418 - FAM238C transcribed_unprocessed_pseudogene 387644 0 0 0 6 0 3 1 0 6 ENSG00000283710 chr8 127795962 127796028 + MIR1204 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302185 0 0 0 0 0 0 0 0 0 ENSG00000283712 chr1 1312502 1312566 - MIR6727 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465435 0 0 0 0 0 0 0 0 0 ENSG00000283717 chr5 140563671 140563751 - MIR6831 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465499 0 0 0 0 0 0 0 0 0 ENSG00000283721 chr17 40026332 40026409 - MIR6884 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466757 0 0 0 0 0 0 0 0 0 ENSG00000283724 chr1 37480230 37480289 + MIR6732 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465438 0 0 0 0 0 0 0 0 0 ENSG00000283726 chr3 49806137 49806245 - MIR5193 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847079 0 0 0 0 0 0 0 0 0 ENSG00000283728 chr19 2434914 2435000 - MIR7108 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466806 0 0 0 0 0 0 0 0 0 ENSG00000283733 chr5 160485352 160485450 + MIR146A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. Some of the targets of the encoded miRNA are the transcripts for tumor necrosis factor, interleukin 1 receptor-associated kinase 1, interleukin 1-beta, TNF receptor-associated factor 6, and complement factor H. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2015]. 406938 GO:0070062, GO:0070062, GO:0005615, GO:0005615, extracellular exosome, extracellular exosome, extracellular space, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000774, GO:2000736, GO:2000342, GO:1905709, GO:1904995, GO:1904646, GO:1904465, GO:1904046, GO:1903589, GO:1902532, GO:1902511, GO:1901223, GO:1900016, GO:0140052, GO:0120132, GO:0098586, GO:0090051, GO:0090051, GO:0090050, GO:0090050, GO:0071456, GO:0071345, GO:0071333, GO:0071222, GO:0071222, GO:0070498, GO:0060354, GO:0060253, GO:0051898, GO:0050728, GO:0045743, GO:0045666, GO:0043065, GO:0042532, GO:0038061, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0034144, GO:0034121, GO:0032717, GO:0032715, GO:0016525, GO:0010887, GO:0010629, GO:0010628, GO:0002692, GO:0001937, positive regulation of cellular senescence, regulation of stem cell differentiation, negative regulation of chemokine (C-X-C motif) ligand 2 production, negative regulation of membrane permeability, negative regulation of leukocyte adhesion to vascular endothelial cell, cellular response to amyloid-beta, negative regulation of matrix metallopeptidase secretion, negative regulation of vascular endothelial growth factor production, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of intracellular signal transduction, negative regulation of apoptotic DNA fragmentation, negative regulation of NIK/NF-kappaB signaling, negative regulation of cytokine production involved in inflammatory response, cellular response to oxidised low-density lipoprotein particle stimulus, positive regulation of apoptotic process in bone marrow cell, cellular response to virus, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, positive regulation of cell migration involved in sprouting angiogenesis, cellular response to hypoxia, cellular response to cytokine stimulus, cellular response to glucose stimulus, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, interleukin-1-mediated signaling pathway, negative regulation of cell adhesion molecule production, negative regulation of glial cell proliferation, negative regulation of protein kinase B signaling, negative regulation of inflammatory response, positive regulation of fibroblast growth factor receptor signaling pathway, positive regulation of neuron differentiation, positive regulation of apoptotic process, negative regulation of tyrosine phosphorylation of STAT protein, NIK/NF-kappaB signaling, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of toll-like receptor 4 signaling pathway, regulation of toll-like receptor signaling pathway, negative regulation of interleukin-8 production, negative regulation of interleukin-6 production, negative regulation of angiogenesis, negative regulation of cholesterol storage, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cellular extravasation, negative regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000283734 chr2 160407810 160407882 - MIR4785 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616364 0 0 0 0 0 0 0 0 0 ENSG00000283736 chr16 15643294 15643372 + MIR484 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 619553 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283737 chrX 42285130 42285925 + AL023875.1 TEC 0 0 0 6 10 1 1 4 2 ENSG00000283740 chr5 17604177 17605377 + TAF11L11 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283743 chrX 47605233 47623509 - AL009172.2 processed_transcript 3 0 0 0 4 0 0 4 2 ENSG00000283744 chr11 86278333 86278398 + MIR6755 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465452 0 0 0 0 0 0 0 0 0 ENSG00000283745 chr7 27169480 27169563 - MIR196B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442920 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283749 chr1 54054079 54054154 + MIR4781 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616315 0 0 0 0 0 0 0 0 0 ENSG00000283751 chrX 151959628 151959712 - MIR452 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574412 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283752 chr1 145139986 145148375 + AC241585.3 unprocessed_pseudogene 0 2 0 0 0 0 0 0 6 ENSG00000283755 chr16 75714224 75726442 - CPHXL protein_coding 105371346 GO:0005634, nucleus, GO:0000981, GO:0000978, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 1 0 0 1 0 0 ENSG00000283757 chr20 46455033 46496731 - AL031686.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283758 chr19 35586161 35587296 + PMIS2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283759 chr12 12915829 12915918 + MIR614 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693199 0 0 0 0 0 0 0 0 0 ENSG00000283761 chr1 99970011 100083321 + AC118553.2 protein_coding 9 7 6 24 41 20 53 16 13 ENSG00000283762 chr13 91351065 91351135 + MIR20A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406982 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:1903231, GO:1903231, GO:1903231, GO:0003730, GO:0000993, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, RNA polymerase II complex binding, GO:1905111, GO:1905061, GO:1904754, GO:1904707, GO:1904046, GO:1903753, GO:1903671, GO:1903244, GO:0090051, GO:0071901, GO:0071222, GO:0060354, GO:0051898, GO:0051497, GO:0050766, GO:0050728, GO:0045766, GO:0045669, GO:0042985, GO:0035924, GO:0035278, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0032700, GO:0030514, GO:0030513, GO:0014067, GO:0010667, GO:0010629, GO:0010629, GO:0010611, GO:0006469, GO:0003151, positive regulation of pulmonary blood vessel remodeling, negative regulation of cardioblast proliferation, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular endothelial growth factor production, negative regulation of p38MAPK cascade, negative regulation of sprouting angiogenesis, positive regulation of cardiac muscle hypertrophy in response to stress, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of protein serine/threonine kinase activity, cellular response to lipopolysaccharide, negative regulation of cell adhesion molecule production, negative regulation of protein kinase B signaling, negative regulation of stress fiber assembly, positive regulation of phagocytosis, negative regulation of inflammatory response, positive regulation of angiogenesis, positive regulation of osteoblast differentiation, negative regulation of amyloid precursor protein biosynthetic process, cellular response to vascular endothelial growth factor stimulus, miRNA mediated inhibition of translation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-17 production, negative regulation of BMP signaling pathway, positive regulation of BMP signaling pathway, negative regulation of phosphatidylinositol 3-kinase signaling, negative regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, negative regulation of gene expression, regulation of cardiac muscle hypertrophy, negative regulation of protein kinase activity, outflow tract morphogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000283764 chr8 144791931 144791991 - MIR6850 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465978 0 0 0 0 0 0 0 0 0 ENSG00000283765 chr3 183815568 183884889 - AC131160.1 protein_coding This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]. 55486 GO:0016021, GO:0005743, GO:0005743, GO:0005739, GO:0005634, integral component of membrane, mitochondrial inner membrane, mitochondrial inner membrane, mitochondrion, nucleus, GO:0005515, GO:0004252, GO:0004175, GO:0004175, GO:0004175, protein binding, serine-type endopeptidase activity, endopeptidase activity, endopeptidase activity, endopeptidase activity, GO:2000377, GO:1903214, GO:1903214, GO:0033619, GO:0033619, GO:0033619, GO:0030162, GO:0010821, GO:0010821, GO:0006851, GO:0006508, GO:0006508, regulation of reactive oxygen species metabolic process, regulation of protein targeting to mitochondrion, regulation of protein targeting to mitochondrion, membrane protein proteolysis, membrane protein proteolysis, membrane protein proteolysis, regulation of proteolysis, regulation of mitochondrion organization, regulation of mitochondrion organization, mitochondrial calcium ion transmembrane transport, proteolysis, proteolysis, 0 1 0 0 0 0 0 1 4 ENSG00000283766 chr2 1552445 1554701 + AC141930.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283768 chr12 119713634 119713724 - MIR1178 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302274 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283769 chr9 136263925 136267237 + CR392000.2 antisense 0 0 0 1 0 0 0 0 0 ENSG00000283770 chr8 144400277 144400345 - MIR6849 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466749 0 0 0 0 0 0 0 0 0 ENSG00000283772 chr17 18340814 18340886 - MIR6778 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466733 0 0 0 0 0 0 0 0 0 ENSG00000283773 chr1 16642767 16643109 - AL137798.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283774 chr17 32350109 32350202 + MIR632 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693217 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283775 chrX 112780718 112780788 - MIR4329 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423009 0 0 0 0 0 0 0 0 0 ENSG00000283776 chr5 17632088 17632684 + TAF11L13 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283782 chr5 132410832 132646079 + AC116366.3 protein_coding 0 0 0 1 0 0 0 0 0 ENSG00000283783 chr13 90231182 90231277 + MIR622 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693207 0 0 0 0 0 0 0 0 0 ENSG00000283785 chr13 50049119 50049201 - MIR15A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406948 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2001244, GO:2000353, GO:2000134, GO:2000134, GO:1904848, GO:1904753, GO:1904706, GO:1904046, GO:1903588, GO:0090051, GO:0071333, GO:0050728, GO:0045736, GO:0043124, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032088, GO:0016525, GO:0016525, GO:0010801, GO:0008285, GO:0006919, positive regulation of intrinsic apoptotic signaling pathway, positive regulation of endothelial cell apoptotic process, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of cell chemotaxis to fibroblast growth factor, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular endothelial growth factor production, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to glucose stimulus, negative regulation of inflammatory response, negative regulation of cyclin-dependent protein serine/threonine kinase activity, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of NF-kappaB transcription factor activity, negative regulation of angiogenesis, negative regulation of angiogenesis, negative regulation of peptidyl-threonine phosphorylation, negative regulation of cell population proliferation, activation of cysteine-type endopeptidase activity involved in apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000283787 chr11 1888577 1891895 - PRR33 protein_coding 5344 5353 6442 2798 4415 3794 3932 3763 3758 ENSG00000283788 chr10 104048089 104048186 - MIR936 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126326 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283789 chr1 12166943 12167038 + MIR7846 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465836 0 0 0 0 0 0 0 0 0 ENSG00000283791 chr11 65444458 65444557 + MIR612 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693197 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283792 chr4 152536428 152536516 + MIR4453 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616193 0 0 0 0 0 0 0 0 0 ENSG00000283793 chr12 112163258 112163321 - MIR6861 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465519 0 0 0 0 0 0 5 0 0 ENSG00000283795 chr1 192716328 192716390 + MIR4426 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616345 0 0 0 0 0 0 0 0 0 ENSG00000283796 chr17 41517164 41517217 - MIR6510 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466658 0 0 0 0 0 0 0 0 0 ENSG00000283797 chr7 130877459 130877539 - MIR29B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407024 GO:1903561, GO:0070062, GO:0005739, GO:0005737, GO:0005634, GO:0005615, extracellular vesicle, extracellular exosome, mitochondrion, cytoplasm, nucleus, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000134, GO:2000134, GO:2000134, GO:1905299, GO:1905241, GO:1905049, GO:1905041, GO:1904685, GO:1904465, GO:1904027, GO:1903847, GO:1903845, GO:1903202, GO:1902992, GO:1902461, GO:1902430, GO:1902110, GO:1901223, GO:1901202, GO:0150190, GO:0098586, GO:0090090, GO:0061754, GO:0060312, GO:0051898, GO:0050709, GO:0050680, GO:0045600, GO:0044030, GO:0043409, GO:0043065, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0034345, GO:0032966, GO:0032966, GO:0030512, GO:0030336, GO:0030335, GO:0010867, GO:0010719, GO:0010629, GO:0010629, GO:0010628, GO:0010628, GO:0008285, GO:0001960, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of intestinal epithelial cell development, positive regulation of canonical Wnt signaling pathway involved in osteoblast differentiation, negative regulation of metallopeptidase activity, regulation of epithelium regeneration, positive regulation of metalloendopeptidase activity, negative regulation of matrix metallopeptidase secretion, negative regulation of collagen fibril organization, regulation of aorta morphogenesis, negative regulation of cellular response to transforming growth factor beta stimulus, negative regulation of oxidative stress-induced cell death, negative regulation of amyloid precursor protein catabolic process, negative regulation of mesenchymal stem cell proliferation, negative regulation of amyloid-beta formation, positive regulation of mitochondrial membrane permeability involved in apoptotic process, negative regulation of NIK/NF-kappaB signaling, negative regulation of extracellular matrix assembly, negative regulation of interleukin-32 production, cellular response to virus, negative regulation of canonical Wnt signaling pathway, negative regulation of circulating fibrinogen levels, regulation of blood vessel remodeling, negative regulation of protein kinase B signaling, negative regulation of protein secretion, negative regulation of epithelial cell proliferation, positive regulation of fat cell differentiation, regulation of DNA methylation, negative regulation of MAPK cascade, positive regulation of apoptotic process, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of type III interferon production, negative regulation of collagen biosynthetic process, negative regulation of collagen biosynthetic process, negative regulation of transforming growth factor beta receptor signaling pathway, negative regulation of cell migration, positive regulation of cell migration, positive regulation of triglyceride biosynthetic process, negative regulation of epithelial to mesenchymal transition, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, positive regulation of gene expression, negative regulation of cell population proliferation, negative regulation of cytokine-mediated signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000283798 chr15 72587217 72587313 + MIR630 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693215 0 0 0 0 0 0 0 0 0 ENSG00000283799 chr1 231019828 231019924 - MIR1182 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302132 0 0 0 0 0 0 0 0 0 ENSG00000283801 chr19 71973 72110 + MIR1302-11 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422919 0 0 0 0 0 0 0 0 0 ENSG00000283803 chr12 54231397 54231476 - MIR3198-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616400 0 0 0 0 0 0 0 0 0 ENSG00000283805 chr17 76736450 76736548 - MIR636 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693221 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283809 chr22 18906238 18947732 + AC007326.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283813 chr11 10508270 10508326 - MIR4485 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616263 0 0 0 0 0 0 0 0 0 ENSG00000283815 chr13 91350751 91350821 + MIR18A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406953 GO:0048471, GO:0005615, perinuclear region of cytoplasm, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905932, GO:1903671, GO:0050861, GO:0035195, positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching, negative regulation of sprouting angiogenesis, positive regulation of B cell receptor signaling pathway, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283818 chr12 94571231 94571352 - MIR7844 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465834 0 0 0 0 0 0 0 0 0 ENSG00000283819 chr17 28861533 28861618 - MIR144 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406936 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1903063, GO:0090370, GO:0090370, GO:0090107, GO:0060355, GO:0050729, GO:0043433, GO:0042985, GO:0042632, GO:0042632, GO:0035278, GO:0035195, GO:0035195, GO:0032760, GO:0032755, GO:0032731, GO:0010983, GO:0010886, GO:0010822, GO:0010719, GO:0010629, GO:0010628, GO:0010561, negative regulation of reverse cholesterol transport, negative regulation of cholesterol efflux, negative regulation of cholesterol efflux, regulation of high-density lipoprotein particle assembly, positive regulation of cell adhesion molecule production, positive regulation of inflammatory response, negative regulation of DNA-binding transcription factor activity, negative regulation of amyloid precursor protein biosynthetic process, cholesterol homeostasis, cholesterol homeostasis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, positive regulation of tumor necrosis factor production, positive regulation of interleukin-6 production, positive regulation of interleukin-1 beta production, positive regulation of high-density lipoprotein particle clearance, positive regulation of cholesterol storage, positive regulation of mitochondrion organization, negative regulation of epithelial to mesenchymal transition, negative regulation of gene expression, positive regulation of gene expression, negative regulation of glycoprotein biosynthetic process, 0 0 0 0 0 0 0 0 0 ENSG00000283821 chr7 100868036 100868107 + MIR6875 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466755 0 0 0 0 0 0 0 0 0 ENSG00000283822 chr19 14529543 14529640 + MIR639 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693224 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283824 chr17 1713903 1713987 - MIR22 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407004 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000774, GO:0090051, GO:0060546, GO:0051152, GO:0050729, GO:0035195, GO:0035195, GO:0001937, positive regulation of cellular senescence, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of necroptotic process, positive regulation of smooth muscle cell differentiation, positive regulation of inflammatory response, gene silencing by miRNA, gene silencing by miRNA, negative regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000283828 chr13 113149432 113154002 - AL137002.2 antisense 102724474 1 0 0 0 0 0 0 0 0 ENSG00000283829 chr22 41923222 41923297 - MIR378I miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616259 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000283836 chr1 43364648 43364715 - MIR6734 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466723 0 0 0 0 0 0 0 0 0 ENSG00000283839 chr2 184593577 184599008 - AC096667.1 antisense 105373780 365 198 430 108 156 124 100 106 101 ENSG00000283840 chr14 100277357 100277417 + MIR6764 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466730 0 0 0 0 0 0 0 0 0 ENSG00000283842 chr19 49933064 49933137 + MIR4751 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616483 0 0 0 0 0 0 0 0 0 ENSG00000283844 chr1 172138798 172138907 - MIR214 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406996 GO:1903561, GO:0048471, GO:0005634, extracellular vesicle, perinuclear region of cytoplasm, nucleus, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905205, GO:1905176, GO:1904753, GO:1904707, GO:1904706, GO:1903244, GO:1903243, GO:1900087, GO:0071456, GO:0060546, GO:0035195, GO:0035195, GO:0035195, GO:0030837, GO:0030336, GO:0016525, GO:0016525, GO:0010629, GO:0010593, GO:0008285, positive regulation of connective tissue replacement, positive regulation of vascular associated smooth muscle cell dedifferentiation, negative regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of cardiac muscle hypertrophy in response to stress, negative regulation of cardiac muscle hypertrophy in response to stress, positive regulation of G1/S transition of mitotic cell cycle, cellular response to hypoxia, negative regulation of necroptotic process, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of actin filament polymerization, negative regulation of cell migration, negative regulation of angiogenesis, negative regulation of angiogenesis, negative regulation of gene expression, negative regulation of lamellipodium assembly, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000283845 chr16 28843919 28844007 - MIR4721 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616256 0 0 0 0 0 0 0 0 0 ENSG00000283848 chr3 50273236 50273297 + MIR6872 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465526 0 0 0 0 0 0 0 0 0 ENSG00000283849 chr3 39152906 39154723 + AC092053.2 antisense 263 365 331 894 961 1228 1005 1011 842 ENSG00000283853 chr17 75784521 75784607 - MIR4738 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616282 0 0 0 0 0 0 0 0 0 ENSG00000283856 chr14 24143489 24143565 - MIR7703 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465801 0 0 0 0 0 0 0 0 0 ENSG00000283857 chr14 101560287 101560422 - MIR1247 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302145 0 0 0 0 0 0 0 0 0 ENSG00000283858 chr8 1801125 1801192 + MIR3674 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500912 0 0 0 0 0 0 0 0 0 ENSG00000283863 chr9 127785833 127785923 + MIR3960 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616250 0 0 0 0 0 0 0 0 0 ENSG00000283865 chr2 131379743 131380083 - MTND3P18 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283867 chr10 103394253 103394401 - MIR1307 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302174 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283871 chr22 21653304 21653385 + MIR130B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406920 GO:0005615, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:0090370, GO:0042953, GO:0035195, GO:0032769, negative regulation of cholesterol efflux, lipoprotein transport, gene silencing by miRNA, negative regulation of monooxygenase activity, 0 0 0 0 0 0 0 0 0 ENSG00000283873 chr11 4287499 4288083 - SSU72P4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283874 chr9 127690687 127690795 - MIR3911 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500872 0 0 0 0 0 0 0 0 0 ENSG00000283876 chr1 209623444 209623510 - MIR4260 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422894 0 0 0 0 0 0 0 0 0 ENSG00000283877 chr3 46581150 46617226 + AC104304.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283879 chr17 22519195 22519504 - AC132825.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283880 chr2 176188843 176188901 + MIR7704 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465802 0 0 0 0 0 0 0 0 0 ENSG00000283881 chr1 247201967 247202060 - MIR3916 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500849 0 0 0 0 0 0 0 0 0 ENSG00000283885 chr3 16933196 16933260 + MIR3714 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500913 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000283886 chr9 39816600 39874206 - BX664615.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283888 chr15 96333261 96333307 + MIR1469 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302258 0 0 0 0 0 0 0 0 0 ENSG00000283891 chr15 55372940 55373034 - MIR628 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693213 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 2 1 2 0 0 0 3 2 0 ENSG00000283894 chr3 75630763 75630858 + MIR1324 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302212 0 0 0 0 0 0 0 0 0 ENSG00000283897 chr5 127215159 127229809 - AC011416.3 lincRNA 0 0 1 9 0 6 0 0 0 ENSG00000283899 chr1 51836344 51836402 - MIR761 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313892 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 1 0 ENSG00000283900 chr22 38291918 38398522 - TPTEP2-CSNK1E protein_coding This locus represents naturally occurring readthrough transcription between the neighboring LOC400927 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene) and CSNK1E (casein kinase I isoform epsilon) genes on chromosome 22. The readthrough transcript encodes the same protein as the downstream gene product (casein kinase I isoform epsilon). [provided by RefSeq, Feb 2014]. 102800317 2 0 0 0 2 0 0 2 7 ENSG00000283904 chr21 25573980 25574044 + MIR155 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406947 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0010629, GO:0001818, gene silencing by miRNA, gene silencing by miRNA, negative regulation of gene expression, negative regulation of cytokine production, 0 0 0 0 0 0 0 0 0 ENSG00000283906 chr14 106872783 106873186 - IGHV4-80 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283907 chr19 35557956 35581954 + AD000090.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000283913 chr10 79904898 79951029 + BMS1P21 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000283914 chr17 78248193 78251440 + AC087645.4 lincRNA 0 0 1 1 0 0 3 0 0 ENSG00000283920 chr11 209336 209406 + MIR6743 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465445 0 0 0 0 0 0 0 0 0 ENSG00000283921 chr9 30144 30281 + MIR1302-9 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422831 0 0 0 0 0 0 0 0 0 ENSG00000283923 chr7 117020211 117020319 + MIR6132 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466616 0 0 0 0 0 0 0 0 0 ENSG00000283926 chr11 64891137 64891246 - MIR192 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406967 GO:1903561, GO:0005615, GO:0005615, extracellular vesicle, extracellular space, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, GO:0032705, GO:0001953, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-21 production, negative regulation of cell-matrix adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000283927 chr18 21825698 21825785 - MIR133A1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406922 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000818, GO:2000480, GO:2000134, GO:1905283, GO:1905209, GO:1905032, GO:1905024, GO:1904706, GO:1903206, GO:1902260, GO:0140199, GO:0071877, GO:0071345, GO:0070373, GO:0060307, GO:0035195, GO:0035195, GO:0035195, GO:0031586, GO:0030336, GO:0010989, GO:0010881, GO:0010831, GO:0010667, GO:0010628, GO:0010614, GO:0010455, GO:0008285, negative regulation of myoblast proliferation, negative regulation of cAMP-dependent protein kinase activity, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of epidermal growth factor receptor signaling pathway involved in heart process, positive regulation of cardiocyte differentiation, negative regulation of membrane repolarization during cardiac muscle cell action potential, regulation of membrane repolarization during ventricular cardiac muscle cell action potential, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of hydrogen peroxide-induced cell death, negative regulation of delayed rectifier potassium channel activity, negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process, regulation of adenylate cyclase-inhibiting adrenergic receptor signaling pathway, cellular response to cytokine stimulus, negative regulation of ERK1 and ERK2 cascade, regulation of ventricular cardiac muscle cell membrane repolarization, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, negative regulation of cell migration, negative regulation of low-density lipoprotein particle clearance, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, positive regulation of myotube differentiation, negative regulation of cardiac muscle cell apoptotic process, positive regulation of gene expression, negative regulation of cardiac muscle hypertrophy, positive regulation of cell fate commitment, negative regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000283928 chr19 3961414 3961512 - MIR637 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693222 0 0 0 0 0 0 0 0 0 ENSG00000283929 chr17 42514188 42514307 + MIR5010 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847046 GO:0005615, extracellular space, 12 13 14 0 13 13 5 6 4 ENSG00000283930 chr10 38094368 38360098 + AL117339.5 protein_coding 11 20 23 5 6 19 7 1 7 ENSG00000283931 chrX 134170041 134170111 - MIR18B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574033 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0030857, gene silencing by miRNA, negative regulation of epithelial cell differentiation, 0 0 0 0 0 0 0 0 0 ENSG00000283932 chr20 22560553 22584261 - AL121722.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283933 chr1 150492345 150492410 + MIR6878 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465529 0 0 0 0 0 0 0 0 0 ENSG00000283935 chr17 30117079 30117172 + MIR423 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494335 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283936 chr1 165907921 165907976 + MIR3658 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500832 0 0 0 0 0 0 0 0 0 ENSG00000283938 chr1 25906362 25906454 - MIR3917 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500808 0 0 0 0 0 0 0 0 0 ENSG00000283940 chr2 130278036 130278376 + AC068137.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283941 chr9 123111546 123111643 - MIR600 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693185 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283944 chr14 74480133 74480204 - MIR4709 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616211 0 0 0 0 0 0 0 0 0 ENSG00000283945 chr9 27245680 27284869 - LINC00032 transcribed_unprocessed_pseudogene 158035 0 1 0 1 0 0 0 0 0 ENSG00000283948 chr14 106170749 106171052 - IGHVIII-16-1 IG_V_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283950 chr19 6736712 6736778 - MIR6791 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465474 0 0 0 0 0 0 0 0 0 ENSG00000283952 chr1 211082872 211188533 - AC092017.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283956 chr8 116874728 116874800 - MIR3610 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500914 0 0 0 0 0 0 0 0 0 ENSG00000283958 chr3 186786672 186786777 + MIR1248 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302143 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000283959 chr8 102656464 102687118 + AP002851.1 bidirectional_promoter_lncRNA 0 1 0 1 11 6 3 0 0 ENSG00000283967 chr5 17590364 17590960 - TAF11L8 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283969 chr7 44073378 44073433 - MIR6838 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465504 0 0 0 0 0 0 0 1 0 ENSG00000283971 chr3 25664873 25664939 - MIR4442 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616477 0 0 0 0 0 0 0 0 0 ENSG00000283972 chr22 21193360 21203755 - AP000550.4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000283973 chr1 42959065 42961864 - AC099795.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000283977 chr11 6481485 6508978 + AC084337.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000283978 chr17 31575411 31575521 + MIR365B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126356 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283980 chr19 12687998 12688422 + GNG14 protein_coding 105372280 GO:0031680, GO:0005834, G-protein beta/gamma-subunit complex, heterotrimeric G-protein complex, GO:0031681, G-protein beta-subunit binding, GO:0007186, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000283982 chr9 23500691 23672387 - AL445623.2 lincRNA 101929563 0 0 1 0 0 0 0 0 0 ENSG00000283988 chr5 17593798 17594394 - TAF11L9 protein_coding 0 0 1 0 0 0 0 0 0 ENSG00000283990 chr22 46112749 46112822 + MIRLET7A3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406883 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000283991 chr7 4130181 4134837 - AC017000.1 antisense 0 0 0 0 0 0 0 1 0 ENSG00000283992 chr8 142764338 142769844 - SLURP2 protein_coding This gene encodes a novel, secreted member of the Ly6/uPAR (LU) superfamily of proteins containing the unique three-finger LU domain. This gene is mainly expressed in epithelial cells, including skin and keratinocytes, and is up-regulated in psoriatic skin lesions, suggesting its involvement in the pathophysiology of psoriasis. Alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (LYNX1) generates naturally-occurring transcripts (LYNX1-SLURP2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Sep 2017]. 432355 GO:0045202, GO:0031225, GO:0005886, GO:0005615, synapse, anchored component of membrane, plasma membrane, extracellular space, GO:0033130, GO:0030550, GO:0030548, acetylcholine receptor binding, acetylcholine receptor inhibitor activity, acetylcholine receptor regulator activity, GO:2000272, GO:0099601, GO:0095500, negative regulation of signaling receptor activity, regulation of neurotransmitter receptor activity, acetylcholine receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000283994 chr2 143601517 143608759 + AC092652.3 sense_intronic 83 108 113 102 195 253 128 189 229 ENSG00000283998 chr12 94834398 94834513 + MIR492 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574449 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905563, GO:0043537, GO:0035195, GO:0035195, GO:0016525, GO:0010629, negative regulation of vascular endothelial cell proliferation, negative regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, negative regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000283999 chr1 110473756 110488663 + AL358215.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284000 chr5 8460925 8460999 + MIR4458 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616142 0 0 0 0 0 0 0 0 0 ENSG00000284003 chr2 131373647 131379675 - AC073869.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284005 chr1 20633679 20633788 + MIR6084 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464833 0 0 0 0 0 0 0 0 0 ENSG00000284008 chr16 2106669 2106753 - MIR6511B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465429 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000284010 chr11 1996759 1996831 - MIR675 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100033819 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2001170, GO:1903945, GO:1903428, GO:1901670, GO:1900017, GO:0098586, GO:0051897, GO:0045668, GO:0035195, GO:0035195, GO:0033689, GO:0007162, negative regulation of ATP biosynthetic process, positive regulation of hepatocyte apoptotic process, positive regulation of reactive oxygen species biosynthetic process, negative regulation of superoxide dismutase activity, positive regulation of cytokine production involved in inflammatory response, cellular response to virus, positive regulation of protein kinase B signaling, negative regulation of osteoblast differentiation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of osteoblast proliferation, negative regulation of cell adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000284011 chr12 66251082 66251157 + MIR6502 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465249 0 0 0 0 0 0 0 0 0 ENSG00000284012 chr7 100356651 100356721 + MIR6840 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466747 0 0 0 0 0 0 0 0 0 ENSG00000284015 chr22 41092513 41092566 + MIR1281 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302237 0 0 0 0 0 0 0 0 0 ENSG00000284018 chr11 4233288 4233872 + SSU72P5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284020 chr11 133898504 133898581 - MIR4697 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616119 0 0 0 0 0 0 0 0 0 ENSG00000284024 chr10 14838160 14847018 + HSPA14 protein_coding 51182 GO:0016020, GO:0005886, GO:0005840, GO:0005840, GO:0005829, GO:0005829, GO:0005737, GO:0005634, membrane, plasma membrane, ribosome, ribosome, cytosol, cytosol, cytoplasm, nucleus, GO:0051787, GO:0051082, GO:0044183, GO:0031072, GO:0016887, GO:0005524, GO:0005515, misfolded protein binding, unfolded protein binding, protein folding chaperone, heat shock protein binding, ATPase activity, ATP binding, protein binding, GO:0051085, GO:0051083, GO:0042026, GO:0034620, GO:0016192, chaperone cofactor-dependent protein refolding, 'de novo' cotranslational protein folding, protein refolding, cellular response to unfolded protein, vesicle-mediated transport, 112 133 143 93 101 153 114 92 103 ENSG00000284027 chr17 7017911 7018022 - MIR497 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574456 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1903588, GO:0090051, GO:0043124, GO:0035195, GO:0035195, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of I-kappaB kinase/NF-kappaB signaling, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284028 chr7 138123758 138123821 + MIR4468 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616226 0 0 0 0 0 0 0 0 0 ENSG00000284029 chr19 55388181 55388242 + MIR6805 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465483 0 0 0 0 0 0 0 0 0 ENSG00000284031 chr22 19963753 19963834 + MIR4761 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616414 0 0 0 0 0 0 0 0 0 ENSG00000284032 chr7 130876747 130876810 - MIR29A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407021 GO:1903561, GO:0070062, GO:0005739, GO:0005737, GO:0005615, extracellular vesicle, extracellular exosome, mitochondrion, cytoplasm, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000134, GO:1905564, GO:1902992, GO:1902430, GO:1902110, GO:1900087, GO:0090303, GO:0061754, GO:0051898, GO:0051897, GO:0045766, GO:0045742, GO:0044030, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032966, GO:0030336, GO:0030335, GO:0016525, GO:0010629, GO:0010628, GO:0010595, GO:0008285, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of vascular endothelial cell proliferation, negative regulation of amyloid precursor protein catabolic process, negative regulation of amyloid-beta formation, positive regulation of mitochondrial membrane permeability involved in apoptotic process, positive regulation of G1/S transition of mitotic cell cycle, positive regulation of wound healing, negative regulation of circulating fibrinogen levels, negative regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, positive regulation of angiogenesis, positive regulation of epidermal growth factor receptor signaling pathway, regulation of DNA methylation, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of collagen biosynthetic process, negative regulation of cell migration, positive regulation of cell migration, negative regulation of angiogenesis, negative regulation of gene expression, positive regulation of gene expression, positive regulation of endothelial cell migration, negative regulation of cell population proliferation, 0 1 1 2 0 1 1 1 3 ENSG00000284034 chr19 35345513 35345627 + MIR5196 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847070 0 0 0 0 0 0 0 0 0 ENSG00000284035 chr1 161227186 161227261 + MIR5187 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847090 1 2 0 0 0 0 0 0 2 ENSG00000284038 chr17 48579838 48579947 - MIR10A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406902 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000774, GO:1903769, GO:1903589, GO:1902807, GO:0110059, GO:0110023, GO:0090050, GO:0043537, GO:0035195, GO:0035195, GO:0030949, GO:0016525, positive regulation of cellular senescence, negative regulation of cell proliferation in bone marrow, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell cycle G1/S phase transition, negative regulation of blood vessel endothelial cell differentiation, negative regulation of cardiac muscle myoblast proliferation, positive regulation of cell migration involved in sprouting angiogenesis, negative regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, positive regulation of vascular endothelial growth factor receptor signaling pathway, negative regulation of angiogenesis, 0 0 0 0 0 0 0 0 0 ENSG00000284040 chr20 58817615 58817694 - MIR296 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407022 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0090050, GO:0035195, GO:0035195, GO:0030949, GO:0010641, positive regulation of cell migration involved in sprouting angiogenesis, gene silencing by miRNA, gene silencing by miRNA, positive regulation of vascular endothelial growth factor receptor signaling pathway, positive regulation of platelet-derived growth factor receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000284041 chr7 150368790 150396915 + AC073111.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284042 chr5 17528669 17529265 + TAF11L6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284043 chrX 134169809 134169877 - MIR20B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574032 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000774, GO:1905563, GO:1904046, GO:0071356, GO:0045669, GO:0035195, GO:0035195, GO:0035195, GO:0016525, GO:0010628, positive regulation of cellular senescence, negative regulation of vascular endothelial cell proliferation, negative regulation of vascular endothelial growth factor production, cellular response to tumor necrosis factor, positive regulation of osteoblast differentiation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000284047 chr7 2257515 2257577 - MIR6836 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465503 0 0 0 0 0 0 0 0 0 ENSG00000284048 chr7 150379329 150410597 + AC073111.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284049 chr22 22822776 22822871 + MIR650 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 723778 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284052 chr2 190607660 190649840 - AC006460.2 bidirectional_promoter_lncRNA 19 9 33 8 16 40 29 18 34 ENSG00000284054 chr8 144262673 144262737 - MIR7112 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465906 0 0 0 0 0 0 0 0 0 ENSG00000284055 chr17 45475363 45475435 - MIR4315-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423004 0 0 0 0 0 0 0 0 0 ENSG00000284057 chr11 93741664 93812378 + AP001273.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284059 chr15 80581103 80581239 + MIR5572 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847042 0 0 0 0 0 0 0 0 0 ENSG00000284060 chr22 21002895 21009453 - AC002472.2 transcribed_unprocessed_pseudogene 3 0 5 6 5 0 3 8 4 ENSG00000284062 chr8 42896197 42896275 - MIR4469 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616115 0 0 0 0 0 0 0 0 0 ENSG00000284064 chr6 33290245 33290325 + MIR6834 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465501 0 0 0 0 0 0 0 0 0 ENSG00000284065 chr19 35122700 35122764 + MIR6887 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466205 0 0 0 0 0 0 0 0 0 ENSG00000284067 chr7 44051766 44051829 + MIR6837 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466985 0 0 0 0 0 0 0 0 0 ENSG00000284070 chr22 24645171 24651657 - AP000356.2 antisense 1 3 1 2 7 5 6 1 0 ENSG00000284071 chrY 24196518 24206132 - AC012005.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284074 chr20 62332487 62332557 - MIR4758 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616340 0 0 0 0 0 0 0 0 0 ENSG00000284078 chr5 86620497 86620575 + AC108110.1 miRNA 0 0 0 0 0 0 0 0 0 ENSG00000284079 chr2 207754807 207754881 + MIR4775 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616361 0 0 0 0 0 0 0 0 0 ENSG00000284081 chr19 14073361 14073479 + MIR1199 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466515 0 0 0 0 0 0 0 0 0 ENSG00000284082 chr22 31621467 31621531 - MIR7109 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465666 0 0 0 0 0 0 0 0 0 ENSG00000284084 chr2 200695723 200748040 + AOX3P-AOX2P processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284085 chr17 28861655 28861730 - MIR4732 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616385 GO:0005615, GO:0005615, extracellular space, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000284087 chr8 124508515 124508576 - MIR6844 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466200 0 0 0 0 0 0 0 0 0 ENSG00000284092 chr2 227472132 227472187 + MIR5703 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847081 0 0 0 0 0 0 0 0 0 ENSG00000284094 chr11 15969533 15969621 - MIR6073 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102464826 0 0 0 0 0 0 0 0 0 ENSG00000284095 chr3 130868004 130869357 - AC055733.4 TEC 1 1 1 0 0 0 0 0 0 ENSG00000284098 chr7 57190300 57190460 + AC099654.9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284107 chrX 134169671 134169766 - MIR19B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406981 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284108 chr11 61792495 61792561 - MIR611 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693196 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284112 chr17 7017615 7017701 - MIR195 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406971 GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1905205, GO:1904684, GO:1904046, GO:1904046, GO:1903202, GO:0150079, GO:0090272, GO:0061049, GO:0045930, GO:0043124, GO:0043065, GO:0035195, GO:0035195, GO:0035195, GO:0032720, GO:0032715, GO:0032691, GO:0010972, GO:0010666, GO:0008285, GO:0003300, GO:0003245, GO:0002931, positive regulation of connective tissue replacement, negative regulation of metalloendopeptidase activity, negative regulation of vascular endothelial growth factor production, negative regulation of vascular endothelial growth factor production, negative regulation of oxidative stress-induced cell death, negative regulation of neuroinflammatory response, negative regulation of fibroblast growth factor production, cell growth involved in cardiac muscle cell development, negative regulation of mitotic cell cycle, negative regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of apoptotic process, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of interleukin-1 beta production, negative regulation of G2/M transition of mitotic cell cycle, positive regulation of cardiac muscle cell apoptotic process, negative regulation of cell population proliferation, cardiac muscle hypertrophy, cardiac muscle tissue growth involved in heart morphogenesis, response to ischemia, 0 0 0 0 0 0 0 0 0 ENSG00000284114 chr19 49832018 49832099 + MIR6800 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465480 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000284116 chr9 39983793 40106611 - AL772307.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284117 chr17 8144994 8145071 - MIR6883 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465532 0 0 0 0 0 0 0 0 0 ENSG00000284118 chr14 22956950 22957029 - MIR4707 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616424 0 0 0 0 0 0 0 0 0 ENSG00000284121 chr3 120395668 120395729 - MIR198 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406975 GO:1903561, extracellular vesicle, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2001241, GO:0035195, GO:0035195, positive regulation of extrinsic apoptotic signaling pathway in absence of ligand, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284122 chr14 21023314 21023386 - MIR6717 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465428 0 0 0 0 0 0 0 0 0 ENSG00000284125 chr20 32237795 32237847 + MIR1825 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302183 GO:0005575, cellular_component, GO:0003674, molecular_function, GO:0008150, biological_process, 0 0 0 0 0 0 0 0 0 ENSG00000284128 chr22 24644791 24653356 + AP000356.3 transcribed_unprocessed_pseudogene 0 6 1 1 2 0 2 2 0 ENSG00000284129 chr19 2235829 2235926 - MIR6789 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466736 0 0 0 0 0 0 0 0 0 ENSG00000284130 chr22 21011384 21014217 - AC002472.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284134 chr3 114316475 114316569 - MIR568 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693153 0 0 0 0 0 0 0 0 0 ENSG00000284135 chr7 133034860 133034915 - MIR3654 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500804 0 0 0 0 0 0 0 0 0 ENSG00000284138 chr1 42952202 42952641 - ATP6V0CP4 processed_pseudogene 0 0 0 1 1 0 3 1 0 ENSG00000284139 chr8 144400086 144400165 - MIR1234 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302196 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000284140 chr22 20085746 20085833 + MIR3618 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500860 0 0 0 0 0 0 0 0 0 ENSG00000284142 chr8 143837756 143837816 - MIR6845 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466748 0 0 0 0 0 0 0 0 0 ENSG00000284143 chr12 120723193 120723266 + MIR4700 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616329 0 0 0 0 0 0 0 0 0 ENSG00000284144 chr17 40161933 40162001 + MIR6866 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466986 0 0 0 0 0 0 0 0 0 ENSG00000284146 chr3 197674496 197674576 - MIR922 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126321 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284147 chr8 95072911 95072996 - MIR3150B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500907 0 0 0 0 0 0 0 0 0 ENSG00000284148 chr11 119312950 119313012 - MIR6756 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465453 0 0 0 0 0 0 0 0 0 ENSG00000284149 chr2 131491160 131491236 - MIR4784 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616378 0 0 0 0 0 0 0 0 0 ENSG00000284152 chr12 57512688 57512750 + MIR6758 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465454 0 0 0 0 0 0 0 0 0 ENSG00000284154 chr1 33332393 33332492 - MIR3605 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500853 GO:0005615, extracellular space, 18 15 22 4 1 3 2 0 0 ENSG00000284155 chr11 64891355 64891439 - MIR194-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406970 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284157 chrX 134170198 134170278 - MIR106A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406899 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1904046, GO:0042985, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0032717, GO:0032693, GO:0032693, negative regulation of vascular endothelial growth factor production, negative regulation of amyloid precursor protein biosynthetic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-8 production, negative regulation of interleukin-10 production, negative regulation of interleukin-10 production, 0 0 0 0 0 0 0 0 0 ENSG00000284158 chr3 39138206 39138266 + MIR6822 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466743 0 0 0 0 0 1 7 1 0 ENSG00000284159 chr19 6416410 6416511 - MIR3940 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500888 0 0 0 0 0 0 0 0 0 ENSG00000284160 chr15 85380596 85380662 + MIR7706 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465803 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000284162 chr17 29390662 29390730 + MIR4523 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616122 0 0 0 0 0 0 0 0 0 ENSG00000284163 chr1 228097263 228097341 + MIR3620 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500810 0 0 0 0 0 0 0 0 0 ENSG00000284167 chr2 143099936 143100612 - AC013437.2 processed_pseudogene 5 16 11 11 17 28 7 11 7 ENSG00000284171 chr2 130278444 130278739 + AC068137.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284172 chr17 64822030 64822102 - MIR4315-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422961 0 0 0 0 0 0 0 0 0 ENSG00000284173 chr2 218280125 218280188 - MIR6513 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465256 0 0 0 0 0 0 0 0 0 ENSG00000284175 chr22 46113566 46113657 + MIR4763 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616143 0 0 0 0 0 0 0 0 0 ENSG00000284176 chr7 102465742 102465826 + MIR5090 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847073 0 0 0 0 0 0 0 0 0 ENSG00000284179 chr9 83969748 83969857 - MIR7-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407043 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284180 chr2 188995630 188995692 + MIR3606 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500837 0 0 0 0 0 0 0 0 0 ENSG00000284182 chr5 149428918 149429023 + MIR143 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406935 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1905111, GO:1904754, GO:1900239, GO:0060414, GO:0051897, GO:0048662, GO:0046325, GO:0045766, GO:0044663, GO:0043536, GO:0038166, GO:0035195, GO:0035195, GO:0032148, GO:0030036, GO:0016525, GO:0006940, positive regulation of pulmonary blood vessel remodeling, positive regulation of vascular associated smooth muscle cell migration, regulation of phenotypic switching, aorta smooth muscle tissue morphogenesis, positive regulation of protein kinase B signaling, negative regulation of smooth muscle cell proliferation, negative regulation of glucose import, positive regulation of angiogenesis, establishment or maintenance of cell type involved in phenotypic switching, positive regulation of blood vessel endothelial cell migration, angiotensin-activated signaling pathway, gene silencing by miRNA, gene silencing by miRNA, activation of protein kinase B activity, actin cytoskeleton organization, negative regulation of angiogenesis, regulation of smooth muscle contraction, 0 0 0 0 0 0 0 0 0 ENSG00000284184 chr16 15611030 15611095 - MIR6506 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465252 0 0 0 0 0 0 0 0 0 ENSG00000284185 chr9 128392618 128392714 - MIR219A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407003 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284186 chr17 74748613 74748699 + MIR3615 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500847 GO:0005615, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000284188 chr1 244729898 244730962 - AL451007.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284190 chr17 59841266 59841337 + MIR21 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406991 GO:1903561, GO:0070062, GO:0005737, GO:0005615, GO:0005615, extracellular vesicle, extracellular exosome, cytoplasm, extracellular space, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000660, GO:2000377, GO:2000321, GO:2000318, GO:2000134, GO:1990009, GO:1905955, GO:1905564, GO:1905460, GO:1905065, GO:1904996, GO:1904830, GO:1904827, GO:1904762, GO:1904754, GO:1904754, GO:1904753, GO:1904728, GO:1904707, GO:1904707, GO:1904707, GO:1904695, GO:1904685, GO:1904639, GO:1903766, GO:1903589, GO:1903427, GO:1902731, GO:1902514, GO:1902504, GO:1902254, GO:1901670, GO:1901299, GO:1901223, GO:1901223, GO:1900748, GO:1900082, GO:1900039, GO:1900017, GO:0106016, GO:0098586, GO:0071222, GO:0071222, GO:0070374, GO:0070374, GO:0070373, GO:0061154, GO:0061037, GO:0060940, GO:0060339, GO:0051897, GO:0051897, GO:0051896, GO:0051497, GO:0050729, GO:0050729, GO:0045824, GO:0045766, GO:0045669, GO:0045603, GO:0045600, GO:0045590, GO:0043409, GO:0043066, GO:0043065, GO:0042104, GO:0042058, GO:0036166, GO:0035278, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0034392, GO:0034260, GO:0032963, GO:0032705, GO:0032695, GO:0032480, GO:0032148, GO:0032088, GO:0031346, GO:0030511, GO:0030509, GO:0030336, GO:0030335, GO:0030335, GO:0030334, GO:0016525, GO:0016525, GO:0014068, GO:0010838, GO:0010718, GO:0010667, GO:0010629, GO:0010629, GO:0010629, GO:0010628, GO:0010614, GO:0010613, GO:0010596, GO:0010595, GO:0008360, GO:0008285, GO:0008285, GO:0008284, GO:0008284, GO:0007566, GO:0007179, GO:0001960, GO:0001937, GO:0001934, GO:0001934, GO:0001819, GO:0001568, negative regulation of interleukin-1-mediated signaling pathway, regulation of reactive oxygen species metabolic process, positive regulation of T-helper 17 cell differentiation, positive regulation of T-helper 17 type immune response, negative regulation of G1/S transition of mitotic cell cycle, retinal cell apoptotic process, negative regulation of endothelial tube morphogenesis, positive regulation of vascular endothelial cell proliferation, negative regulation of vascular associated smooth muscle cell apoptotic process, positive regulation of vascular associated smooth muscle cell differentiation, positive regulation of leukocyte adhesion to vascular endothelial cell, negative regulation of aortic smooth muscle cell differentiation, negative regulation of hydrogen sulfide biosynthetic process, positive regulation of myofibroblast differentiation, positive regulation of vascular associated smooth muscle cell migration, positive regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell migration, positive regulation of replicative senescence, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of vascular associated smooth muscle contraction, positive regulation of metalloendopeptidase activity, cellular response to resveratrol, positive regulation of potassium ion export across plasma membrane, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of reactive oxygen species biosynthetic process, negative regulation of chondrocyte proliferation, regulation of calcium ion transmembrane transport via high voltage-gated calcium channel, regulation of signal transduction involved in mitotic G2 DNA damage checkpoint, negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator, negative regulation of superoxide dismutase activity, negative regulation of hydrogen peroxide-mediated programmed cell death, negative regulation of NIK/NF-kappaB signaling, negative regulation of NIK/NF-kappaB signaling, positive regulation of vascular endothelial growth factor signaling pathway, negative regulation of arginine catabolic process, positive regulation of cellular response to hypoxia, positive regulation of cytokine production involved in inflammatory response, positive regulation of inflammatory response to wounding, cellular response to virus, cellular response to lipopolysaccharide, cellular response to lipopolysaccharide, positive regulation of ERK1 and ERK2 cascade, positive regulation of ERK1 and ERK2 cascade, negative regulation of ERK1 and ERK2 cascade, endothelial tube morphogenesis, negative regulation of cartilage development, epithelial to mesenchymal transition involved in cardiac fibroblast development, negative regulation of type I interferon-mediated signaling pathway, positive regulation of protein kinase B signaling, positive regulation of protein kinase B signaling, regulation of protein kinase B signaling, negative regulation of stress fiber assembly, positive regulation of inflammatory response, positive regulation of inflammatory response, negative regulation of innate immune response, positive regulation of angiogenesis, positive regulation of osteoblast differentiation, positive regulation of endothelial cell differentiation, positive regulation of fat cell differentiation, negative regulation of regulatory T cell differentiation, negative regulation of MAPK cascade, negative regulation of apoptotic process, positive regulation of apoptotic process, positive regulation of activated T cell proliferation, regulation of epidermal growth factor receptor signaling pathway, phenotypic switching, miRNA mediated inhibition of translation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of smooth muscle cell apoptotic process, negative regulation of GTPase activity, collagen metabolic process, negative regulation of interleukin-21 production, negative regulation of interleukin-12 production, negative regulation of type I interferon production, activation of protein kinase B activity, negative regulation of NF-kappaB transcription factor activity, positive regulation of cell projection organization, positive regulation of transforming growth factor beta receptor signaling pathway, BMP signaling pathway, negative regulation of cell migration, positive regulation of cell migration, positive regulation of cell migration, regulation of cell migration, negative regulation of angiogenesis, negative regulation of angiogenesis, positive regulation of phosphatidylinositol 3-kinase signaling, positive regulation of keratinocyte proliferation, positive regulation of epithelial to mesenchymal transition, negative regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, negative regulation of gene expression, negative regulation of gene expression, positive regulation of gene expression, negative regulation of cardiac muscle hypertrophy, positive regulation of cardiac muscle hypertrophy, negative regulation of endothelial cell migration, positive regulation of endothelial cell migration, regulation of cell shape, negative regulation of cell population proliferation, negative regulation of cell population proliferation, positive regulation of cell population proliferation, positive regulation of cell population proliferation, embryo implantation, transforming growth factor beta receptor signaling pathway, negative regulation of cytokine-mediated signaling pathway, negative regulation of endothelial cell proliferation, positive regulation of protein phosphorylation, positive regulation of protein phosphorylation, positive regulation of cytokine production, blood vessel development, 0 0 0 0 0 0 0 0 0 ENSG00000284191 chr7 151238421 151238538 + MIR671 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 768213 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284193 chr20 61953546 61953662 - MIR1257 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302168 0 0 0 0 0 0 0 0 0 ENSG00000284194 chr22 50523568 50526439 - SCO2 protein_coding Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]. 9997 GO:0031305, GO:0030016, GO:0005759, GO:0005739, GO:0005739, integral component of mitochondrial inner membrane, myofibril, mitochondrial matrix, mitochondrion, mitochondrion, GO:0015035, GO:0005515, GO:0005507, protein disulfide oxidoreductase activity, protein binding, copper ion binding, GO:0055114, GO:0033617, GO:0033617, GO:0022904, GO:0014823, GO:0006878, GO:0006825, GO:0003012, GO:0001701, GO:0001654, oxidation-reduction process, mitochondrial cytochrome c oxidase assembly, mitochondrial cytochrome c oxidase assembly, respiratory electron transport chain, response to activity, cellular copper ion homeostasis, copper ion transport, muscle system process, in utero embryonic development, eye development, 0 0 0 0 0 0 0 0 0 ENSG00000284195 chr9 35710676 35710741 - MIR6852 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465513 0 0 0 0 0 0 0 0 0 ENSG00000284196 chr13 79941531 80074640 - AL158064.1 processed_transcript 0 0 0 0 1 0 0 0 0 ENSG00000284197 chr22 37844272 37844371 - MIR658 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724028 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000284200 chr8 144079874 144079942 + MIR6847 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465510 0 0 0 0 0 0 0 0 0 ENSG00000284202 chr1 98046070 98046171 - MIR137 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406928 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2000134, GO:1904753, GO:1904706, GO:0051898, GO:0045666, GO:0043537, GO:0043065, GO:0035195, GO:0035195, GO:0030336, GO:0016525, GO:0008285, GO:0007406, GO:0001933, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of protein kinase B signaling, positive regulation of neuron differentiation, negative regulation of blood vessel endothelial cell migration, positive regulation of apoptotic process, gene silencing by miRNA, gene silencing by miRNA, negative regulation of cell migration, negative regulation of angiogenesis, negative regulation of cell population proliferation, negative regulation of neuroblast proliferation, negative regulation of protein phosphorylation, 0 0 0 0 0 0 0 0 0 ENSG00000284203 chr1 207802443 207802523 - MIR29B2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407025 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284204 chr13 91350891 91350972 + MIR19A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406979 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1904465, GO:1904465, GO:1903779, GO:1903671, GO:1903202, GO:0071221, GO:0061051, GO:0050861, GO:0050728, GO:0043066, GO:0042531, GO:0042113, GO:0035195, GO:0035195, GO:0035195, GO:0034122, GO:0032715, GO:0032715, GO:0010667, GO:0002862, negative regulation of matrix metallopeptidase secretion, negative regulation of matrix metallopeptidase secretion, regulation of cardiac conduction, negative regulation of sprouting angiogenesis, negative regulation of oxidative stress-induced cell death, cellular response to bacterial lipopeptide, positive regulation of cell growth involved in cardiac muscle cell development, positive regulation of B cell receptor signaling pathway, negative regulation of inflammatory response, negative regulation of apoptotic process, positive regulation of tyrosine phosphorylation of STAT protein, B cell activation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of toll-like receptor signaling pathway, negative regulation of interleukin-6 production, negative regulation of interleukin-6 production, negative regulation of cardiac muscle cell apoptotic process, negative regulation of inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000284209 chr16 34353616 34371659 - FP325313.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284214 chr1 207801852 207801939 - MIR29C miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407026 GO:1903561, GO:0070062, GO:0005739, GO:0005615, extracellular vesicle, extracellular exosome, mitochondrion, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000134, GO:1905563, GO:1904684, GO:1903588, GO:1902807, GO:1902430, GO:1902430, GO:1902110, GO:0090051, GO:0061754, GO:0051898, GO:0044030, GO:0043569, GO:0043065, GO:0035278, GO:0035195, GO:0035195, GO:0030336, GO:0016525, GO:0010629, GO:0008285, GO:0001953, negative regulation of G1/S transition of mitotic cell cycle, negative regulation of vascular endothelial cell proliferation, negative regulation of metalloendopeptidase activity, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of cell cycle G1/S phase transition, negative regulation of amyloid-beta formation, negative regulation of amyloid-beta formation, positive regulation of mitochondrial membrane permeability involved in apoptotic process, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of circulating fibrinogen levels, negative regulation of protein kinase B signaling, regulation of DNA methylation, negative regulation of insulin-like growth factor receptor signaling pathway, positive regulation of apoptotic process, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of cell migration, negative regulation of angiogenesis, negative regulation of gene expression, negative regulation of cell population proliferation, negative regulation of cell-matrix adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000284216 chr19 1816159 1816238 - MIR1909 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302210 0 0 0 0 0 0 0 0 0 ENSG00000284219 chr10 133247511 133247620 - MIR202 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574448 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284221 chr7 57192405 57192698 + AC099654.10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284224 chr8 143812957 143813042 - MIR937 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126338 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284229 chr8 144317246 144317315 - MIR6848 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465511 0 0 0 0 0 0 0 0 0 ENSG00000284231 chrX 134546614 134546711 - MIR424 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 494336 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000545, GO:1905563, GO:1904858, GO:1904831, GO:1904753, GO:1904706, GO:1904706, GO:1903588, GO:1900747, GO:0106128, GO:0090051, GO:0070373, GO:0070317, GO:0043537, GO:0040037, GO:0040037, GO:0035195, GO:0035195, GO:0016525, GO:0001937, negative regulation of endothelial cell chemotaxis to fibroblast growth factor, negative regulation of vascular endothelial cell proliferation, negative regulation of endothelial cell chemotaxis to vascular endothelial growth factor, positive regulation of aortic smooth muscle cell differentiation, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of vascular endothelial growth factor signaling pathway, negative regulation of store-operated calcium entry, negative regulation of cell migration involved in sprouting angiogenesis, negative regulation of ERK1 and ERK2 cascade, negative regulation of G0 to G1 transition, negative regulation of blood vessel endothelial cell migration, negative regulation of fibroblast growth factor receptor signaling pathway, negative regulation of fibroblast growth factor receptor signaling pathway, gene silencing by miRNA, gene silencing by miRNA, negative regulation of angiogenesis, negative regulation of endothelial cell proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000284233 chr22 24633272 24633443 + AP000356.4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284234 chr5 17525235 17525831 + TAF11L5 protein_coding 0 0 0 2 0 0 4 0 0 ENSG00000284237 chr1 207959292 207969329 + AL356275.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284239 chr18 49487373 49487422 + MIR1539 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302257 0 0 0 0 0 0 0 0 0 ENSG00000284240 chr1 87212669 87264741 + AC099062.1 lincRNA 101927844 0 0 0 1 0 0 0 0 0 ENSG00000284242 chr17 66278059 66278664 + AC009452.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284246 chr11 118644000 118644079 + MIR6716 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466719 0 0 0 0 0 0 0 0 0 ENSG00000284247 chr1 98045242 98045351 - MIR2682 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616452 0 0 0 0 0 0 0 0 0 ENSG00000284250 chr17 77089417 77089497 + MIR6516 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466864 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000284251 chr3 48578902 48578977 - MIR711 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313843 GO:0045736, GO:0035195, GO:0035195, GO:0030335, GO:0008285, GO:0008284, negative regulation of cyclin-dependent protein serine/threonine kinase activity, gene silencing by miRNA, gene silencing by miRNA, positive regulation of cell migration, negative regulation of cell population proliferation, positive regulation of cell population proliferation, 0 0 0 0 0 0 0 0 0 ENSG00000284252 chr2 177212726 177212799 + MIR4444-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616394 0 0 0 0 0 0 0 0 0 ENSG00000284253 chr4 116299725 116299768 + MIR1973 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302290 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000284256 chr6 33438331 33438437 + MIR5004 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847012 0 0 0 0 0 0 0 0 0 ENSG00000284258 chr19 44758657 44758721 + MIR8085 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465879 0 0 0 0 0 0 0 0 0 ENSG00000284259 chr16 68233426 68233499 - MIR6773 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466194 0 0 0 0 0 0 0 0 0 ENSG00000284261 chr7 44881748 44881800 - MIR4657 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616393 0 0 0 0 0 0 0 0 0 ENSG00000284263 chr17 22532166 22532522 + AC132825.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284265 chr10 35641172 35641252 - MIR4683 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616500 0 0 0 0 0 0 0 0 0 ENSG00000284266 chr22 37988794 37988853 + MIR4534 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616146 0 1 0 0 0 0 0 0 0 ENSG00000284268 chr19 10403458 10403538 - MIR1181 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302213 0 0 0 0 0 0 0 0 0 ENSG00000284269 chr14 64785626 64785686 - MIR7855 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465841 0 0 0 0 0 0 0 0 0 ENSG00000284272 chr19 2250639 2250718 + MIR4321 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423031 0 0 0 0 0 0 0 0 0 ENSG00000284276 chr4 2250077 2250156 - MIR4800 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616358 0 0 0 0 0 0 0 0 0 ENSG00000284277 chr10 30368597 30368665 - MIR7162 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466227 0 0 0 0 0 0 0 0 0 ENSG00000284280 chr8 27610601 27610751 - MIR6843 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465508 0 0 0 0 0 0 0 0 0 ENSG00000284283 chr5 17521801 17522397 + TAF11L4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284284 chr15 50360329 50360410 + MIR4712 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616396 0 0 0 0 0 0 0 0 0 ENSG00000284286 chrX 154019920 154019989 - MIR718 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313781 0 0 0 0 0 0 0 0 0 ENSG00000284288 chr8 93916022 93916119 - MIR378D2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616169 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000284289 chr22 37967563 37967624 + MIR6820 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465492 0 0 0 0 0 0 0 0 0 ENSG00000284291 chr7 57189578 57190226 + AC099654.11 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284292 chr7 99325879 99394653 + AC004922.1 protein_coding 9 6 3 3 7 0 8 8 2 ENSG00000284293 chr11 68032864 68032922 + MIR7113 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465669 0 0 0 0 0 0 0 0 0 ENSG00000284294 chr22 18936411 18947741 + AC007326.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284299 chr1 210858125 211134146 - AL590132.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284300 chr17 22531463 22531797 + AC132825.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284305 chr16 14901508 14901591 + MIR3179-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422960 0 0 0 0 0 0 0 0 0 ENSG00000284306 chr11 4242056 4242640 - SSU72P2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284308 chr2 74414176 74421591 - C2orf81 protein_coding 388963 0 0 0 0 0 0 0 0 0 ENSG00000284309 chr1 26046665 26049099 + AL391650.2 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000284310 chr8 144394149 144394230 - MIR939 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126351 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0043536, GO:0035278, GO:0035195, GO:0016525, GO:0001953, positive regulation of blood vessel endothelial cell migration, miRNA mediated inhibition of translation, gene silencing by miRNA, negative regulation of angiogenesis, negative regulation of cell-matrix adhesion, 0 0 0 0 0 0 0 0 0 ENSG00000284311 chr1 228397048 228397109 - MIR6742 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465444 0 0 0 0 0 0 0 0 0 ENSG00000284317 chr9 137450026 137450086 - MIR7114 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466223 0 0 0 0 0 0 0 0 0 ENSG00000284321 chr8 9903388 9903472 - MIR124-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406907 GO:0070062, extracellular exosome, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284324 chr15 92904399 92904475 + MIR3175 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422995 1 0 0 0 0 0 0 0 0 ENSG00000284325 chr5 140647844 140647926 + MIR3655 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500820 0 0 0 0 0 0 0 0 0 ENSG00000284327 chr12 7619872 7620260 - AC006927.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284328 chr17 22531876 22532172 + AC132825.8 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284329 chr15 89368017 89368106 + MIR9-3 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407051 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284331 chr18 22933349 22933438 + MIR4741 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616139 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000284332 chr1 30366 30503 + MIR1302-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302278 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284334 chr7 75915197 75915269 + MIR4651 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616270 0 0 0 0 0 0 0 0 0 ENSG00000284336 chr5 93620696 93620788 - MIR2277 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313887 0 0 0 0 0 0 0 0 0 ENSG00000284337 chr2 109898432 109968557 + LIMS3-LOC440895 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284341 chr9 136977518 136985435 + AL807752.7 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284343 chr15 75353611 75353685 - MIR631 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693216 GO:0035195, gene silencing by miRNA, 0 0 3 5 0 0 0 1 0 ENSG00000284344 chr17 43444806 43444885 + MIR2117 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100313779 0 0 0 0 0 0 0 0 0 ENSG00000284346 chr16 2271747 2271840 + MIR940 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126328 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284351 chr8 27701677 27701759 + MIR3622A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500858 0 0 0 0 0 0 0 0 0 ENSG00000284353 chr17 58331232 58331318 - MIR142 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406934 GO:0005615, GO:0005615, extracellular space, extracellular space, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1905710, GO:1903980, GO:1903347, GO:0150078, GO:0070555, GO:0061890, GO:0051966, GO:0051966, GO:0050728, GO:0035195, GO:0035195, GO:0034612, GO:0032690, GO:0032496, positive regulation of membrane permeability, positive regulation of microglial cell activation, negative regulation of bicellular tight junction assembly, positive regulation of neuroinflammatory response, response to interleukin-1, positive regulation of astrocyte activation, regulation of synaptic transmission, glutamatergic, regulation of synaptic transmission, glutamatergic, negative regulation of inflammatory response, gene silencing by miRNA, gene silencing by miRNA, response to tumor necrosis factor, negative regulation of interleukin-1 alpha production, response to lipopolysaccharide, 0 0 0 0 0 0 0 0 0 ENSG00000284356 chr5 17597232 17597828 - TAF11L10 protein_coding 0 0 3 0 0 0 0 0 0 ENSG00000284357 chr1 9151668 9151777 - MIR34A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA is a member of the highly conserved miR-34 family. This miRNA functions as a tumor suppressor and dysregulation or loss of the host gene from which this miRNA is processed is associated with cancer progression in numerous cell types. [provided by RefSeq, Sep 2015]. 407040 GO:1903561, GO:0070062, extracellular vesicle, extracellular exosome, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000774, GO:1905563, GO:1905206, GO:1905205, GO:1904753, GO:1904706, GO:1904046, GO:1903671, GO:1903671, GO:1902532, GO:1901985, GO:1900222, GO:0110114, GO:0110058, GO:0090281, GO:0071901, GO:0071672, GO:0071456, GO:0071158, GO:0070328, GO:0061044, GO:0051898, GO:0051152, GO:0050859, GO:0048678, GO:0042632, GO:0035359, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0033209, GO:0030336, GO:0016525, GO:0010942, GO:0010884, GO:0010666, GO:0010629, GO:0010628, GO:0006974, positive regulation of cellular senescence, negative regulation of vascular endothelial cell proliferation, positive regulation of hydrogen peroxide-induced cell death, positive regulation of connective tissue replacement, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, negative regulation of vascular endothelial growth factor production, negative regulation of sprouting angiogenesis, negative regulation of sprouting angiogenesis, negative regulation of intracellular signal transduction, positive regulation of protein acetylation, negative regulation of amyloid-beta clearance, negative regulation of lipid transporter activity, positive regulation of blood vessel endothelial cell differentiation, negative regulation of calcium ion import, negative regulation of protein serine/threonine kinase activity, negative regulation of smooth muscle cell chemotaxis, cellular response to hypoxia, positive regulation of cell cycle arrest, triglyceride homeostasis, negative regulation of vascular wound healing, negative regulation of protein kinase B signaling, positive regulation of smooth muscle cell differentiation, negative regulation of B cell receptor signaling pathway, response to axon injury, cholesterol homeostasis, negative regulation of peroxisome proliferator activated receptor signaling pathway, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, tumor necrosis factor-mediated signaling pathway, negative regulation of cell migration, negative regulation of angiogenesis, positive regulation of cell death, positive regulation of lipid storage, positive regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, positive regulation of gene expression, cellular response to DNA damage stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000284360 chr12 62260359 62260454 + MIR6125 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465133 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000284361 chr19 804940 805001 + MIR4745 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616459 0 0 0 0 0 0 0 0 0 ENSG00000284362 chr19 53762344 53762430 + MIR519A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574500 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284363 chrX 151958578 151958658 - MIR224 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407009 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284364 chr3 48633636 48633698 - MIR6824 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465495 0 0 0 0 0 0 0 0 0 ENSG00000284368 chr17 64501214 64501313 - MIR5047 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616408 0 0 0 0 0 0 0 0 0 ENSG00000284370 chr6 30890883 30890972 + MIR4640 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616237 0 0 0 0 0 0 0 0 0 ENSG00000284372 chr1 1339650 1339708 - MIR6808 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466740 0 0 0 0 0 0 0 0 0 ENSG00000284373 chr5 17498231 17498827 + TAF11L2 protein_coding 9 14 12 7 20 19 17 20 19 ENSG00000284375 chr13 91351192 91351278 + MIR19B1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406980 GO:1903561, GO:0072562, GO:0048471, GO:0005615, extracellular vesicle, blood microparticle, perinuclear region of cytoplasm, extracellular space, GO:1903231, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, GO:1905095, GO:1904747, GO:1904465, GO:1903063, GO:1901295, GO:1900004, GO:0097006, GO:0090370, GO:0090370, GO:0090051, GO:0071221, GO:0061051, GO:0061051, GO:0060045, GO:0051091, GO:0050819, GO:0042632, GO:0042531, GO:0035278, GO:0035195, GO:0035195, GO:0032715, GO:0010972, GO:0010667, GO:0010629, GO:0008284, GO:0002862, negative regulation of apolipoprotein A-I-mediated signaling pathway, positive regulation of apoptotic process involved in development, negative regulation of matrix metallopeptidase secretion, negative regulation of reverse cholesterol transport, regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment, negative regulation of serine-type endopeptidase activity, regulation of plasma lipoprotein particle levels, negative regulation of cholesterol efflux, negative regulation of cholesterol efflux, negative regulation of cell migration involved in sprouting angiogenesis, cellular response to bacterial lipopeptide, positive regulation of cell growth involved in cardiac muscle cell development, positive regulation of cell growth involved in cardiac muscle cell development, positive regulation of cardiac muscle cell proliferation, positive regulation of DNA-binding transcription factor activity, negative regulation of coagulation, cholesterol homeostasis, positive regulation of tyrosine phosphorylation of STAT protein, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-6 production, negative regulation of G2/M transition of mitotic cell cycle, negative regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, positive regulation of cell population proliferation, negative regulation of inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000284376 chr1 211108445 211207138 - AC092017.4 sense_overlapping 0 0 0 0 0 0 0 0 0 ENSG00000284377 chrX 147181064 147271894 + AL589669.1 lincRNA 105373347 0 0 0 0 0 0 0 0 0 ENSG00000284378 chr2 231713314 231713398 + MIR1244-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302285 0 0 0 0 0 0 0 0 0 ENSG00000284380 chrY 25464006 25473621 + AC006328.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284385 chr15 75762215 75762315 - MIR4313 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423035 0 0 0 0 0 0 0 0 0 ENSG00000284386 chr15 45433050 45433129 + MIR147B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126311 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284387 chr19 13836287 13836359 - MIR24-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407013 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284388 chr12 108635810 108635870 + MIR4496 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616240 0 0 1 0 0 0 0 0 0 ENSG00000284391 chrX 70427450 70435350 - AL139398.1 antisense 105373244 1 0 0 0 0 0 0 0 0 ENSG00000284393 chr12 8138140 8175320 + AC092111.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284394 chr19 49888175 49888230 + MIR4750 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616314 0 0 0 0 0 0 0 0 0 ENSG00000284395 chr16 1431035 1433397 + AL032819.3 protein_coding 105371045 GO:0048546, GO:0035883, digestive tract morphogenesis, enteroendocrine cell differentiation, 0 0 0 5 0 0 0 2 0 ENSG00000284399 chr17 30117086 30117160 - MIR3184 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100423003 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284402 chr12 121444273 121444352 - MIR7107 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465665 0 1 0 0 0 0 0 0 0 ENSG00000284407 chr2 232550474 232550573 - MIR5001 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847037 0 0 0 0 0 0 0 0 0 ENSG00000284410 chr1 43171652 43171712 - MIR6733 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465439 0 0 0 0 0 0 0 0 0 ENSG00000284411 chr19 47226944 47227019 - MIR3191 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422832 0 0 0 0 0 0 0 0 0 ENSG00000284412 chr7 44110849 44110912 + MIR4649 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616346 0 0 0 0 0 0 0 0 0 ENSG00000284415 chr10 98395218 98395307 - MIR1287 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302133 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284416 chr11 61815161 61815240 - MIR1908 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302263 GO:1903561, extracellular vesicle, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1900222, GO:0045766, GO:0035195, GO:0010595, negative regulation of amyloid-beta clearance, positive regulation of angiogenesis, gene silencing by miRNA, positive regulation of endothelial cell migration, 0 0 0 0 0 0 0 0 0 ENSG00000284418 chr9 22703516 23438700 - AL391117.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284419 chr20 26208186 26208278 - MIR663A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 724033 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284421 chr3 123161794 123161879 + MIR7110 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465667 0 0 0 0 0 0 0 0 0 ENSG00000284424 chr17 31534883 31534971 + MIR4724 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616248 0 0 0 0 0 0 0 0 0 ENSG00000284425 chr12 123364764 123364843 - MIR8072 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466877 0 0 0 0 0 0 0 0 0 ENSG00000284427 chr6 44254206 44254285 - MIR4647 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616124 0 0 0 0 0 0 0 0 0 ENSG00000284428 chr19 23259906 23274251 - IPO5P1 processed_transcript 5 3 0 4 5 4 4 3 6 ENSG00000284430 chr19 31100304 31147981 + AC020912.1 lincRNA 2 1 0 0 0 0 0 1 0 ENSG00000284431 chr22 40346529 40410054 + AL022238.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284433 chr20 63941465 63941544 - MIR1914 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302137 0 0 0 0 0 0 0 0 0 ENSG00000284435 chr11 68033897 68033981 + MIR4691 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616403 0 0 0 0 0 0 0 0 0 ENSG00000284436 chr20 1392900 1392961 - MIR6869 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465524 GO:0070062, extracellular exosome, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0071222, GO:0035195, GO:0032720, GO:0032715, GO:0002862, cellular response to lipopolysaccharide, gene silencing by miRNA, negative regulation of tumor necrosis factor production, negative regulation of interleukin-6 production, negative regulation of inflammatory response to antigenic stimulus, 0 0 0 0 0 0 0 0 0 ENSG00000284438 chr11 4338660 4339244 - SSU72P7 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284439 chr5 17518367 17518963 + TAF11L3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284440 chr18 58451074 58451158 + MIR122 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406906 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284442 chr10 114174105 114174179 - MIR2110 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302224 0 0 0 0 0 0 0 0 0 ENSG00000284443 chr1 109598893 109598967 + MIR197 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406974 GO:0070062, GO:0005615, extracellular exosome, extracellular space, GO:1900015, GO:0035195, GO:0035195, GO:0032701, regulation of cytokine production involved in inflammatory response, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interleukin-18 production, 0 0 0 0 0 0 0 0 0 ENSG00000284446 chr6 31956839 31956940 - MIR1236 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302242 0 0 0 0 0 0 0 0 0 ENSG00000284447 chr5 88666853 88666939 - MIR9-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407047 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284448 chr21 33550662 33550728 + MIR6501 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465248 0 0 0 0 0 0 0 0 0 ENSG00000284450 chrX 154768596 154768656 + MIR664B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847052 GO:0005730, nucleolus, GO:0006396, RNA processing, 0 0 0 0 0 0 0 0 0 ENSG00000284452 chr2 495731 496633 + AC093326.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284453 chr18 21829004 21829088 - MIR1-2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406905 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284458 chr11 93733674 93733764 - MIR1304 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302240 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000284459 chr9 95086021 95086088 + MIR24-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407012 GO:1903561, GO:0070062, GO:0005615, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2000353, GO:2000270, GO:1905563, GO:1905522, GO:1905461, GO:1904684, GO:1903588, GO:1903428, GO:1902430, GO:0071901, GO:0070374, GO:0061049, GO:0043537, GO:0035195, GO:0035195, GO:0035195, GO:0032689, GO:0016525, GO:0010804, GO:0010667, positive regulation of endothelial cell apoptotic process, negative regulation of fibroblast apoptotic process, negative regulation of vascular endothelial cell proliferation, negative regulation of macrophage migration, positive regulation of vascular associated smooth muscle cell apoptotic process, negative regulation of metalloendopeptidase activity, negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, positive regulation of reactive oxygen species biosynthetic process, negative regulation of amyloid-beta formation, negative regulation of protein serine/threonine kinase activity, positive regulation of ERK1 and ERK2 cascade, cell growth involved in cardiac muscle cell development, negative regulation of blood vessel endothelial cell migration, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of interferon-gamma production, negative regulation of angiogenesis, negative regulation of tumor necrosis factor-mediated signaling pathway, negative regulation of cardiac muscle cell apoptotic process, 0 0 0 0 0 0 0 0 0 ENSG00000284461 chr7 66628958 66811189 + AC027644.4 protein_coding 1 3 5 2 13 4 2 4 3 ENSG00000284463 chr4 112648485 112648557 - MIR302B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442894 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284464 chr22 20086058 20086142 + MIR1306 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302197 GO:0005615, extracellular space, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284465 chr5 17585162 17585758 - TAF11L7 protein_coding 0 0 0 0 1 0 4 0 2 ENSG00000284469 chr6 32170030 32170116 - MIR6721 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466190 0 0 0 0 0 0 0 0 0 ENSG00000284471 chr9 61982796 61986934 + CR769775.4 TEC 100132874 0 0 3 0 0 0 0 0 0 ENSG00000284473 chr16 81385018 81385093 + MIR4720 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616150 0 0 0 0 0 0 0 0 0 ENSG00000284474 chr7 57167039 57167245 + AC099654.12 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284479 chr2 131035092 131035262 + AC009477.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284481 chr20 2652777 2652842 + MIR1292 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100302138 0 0 0 0 0 0 0 0 0 ENSG00000284482 chr10 110898090 110898155 + MIR4680 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616113 0 0 0 0 0 0 0 0 0 ENSG00000284484 chr16 75660227 75677009 - AC025287.4 protein_coding 0 3 0 0 0 0 1 1 0 ENSG00000284485 chr1 209432133 209432242 + MIR205 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406988 GO:0005615, extracellular space, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:1904685, GO:1904046, GO:1904046, GO:1903847, GO:0090272, GO:0050728, GO:0048261, GO:0035278, GO:0035195, GO:0035195, GO:0035195, positive regulation of metalloendopeptidase activity, negative regulation of vascular endothelial growth factor production, negative regulation of vascular endothelial growth factor production, regulation of aorta morphogenesis, negative regulation of fibroblast growth factor production, negative regulation of inflammatory response, negative regulation of receptor-mediated endocytosis, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284488 chr3 49099854 49099914 - MIR6890 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465536 0 0 0 0 0 0 0 0 0 ENSG00000284489 chr11 65129916 65129978 - MIR6751 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465449 0 0 0 0 0 0 0 0 0 ENSG00000284490 chr19 6199405 6205121 + AC011471.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284491 chr19 12802031 12813581 + THSD8 protein_coding 0 0 2 2 2 0 0 5 0 ENSG00000284498 chr3 44861888 44861981 + MIR564 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693149 0 0 0 0 0 0 0 0 0 ENSG00000284499 chrX 134169378 134169452 - MIR363 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574031 GO:0005615, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284500 chr15 21990080 22059831 + AC134980.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284503 chr12 103930425 103930555 + MIR3652 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500842 0 0 0 0 0 0 0 0 0 ENSG00000284505 chr8 142764334 142778224 - LYNX1-SLURP2 protein_coding This locus represents naturally occurring read-through transcription between the neighboring LYNX1 and SLURP2 genes. The readthrough transcript encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The significance of this read-through transcription and the function of the resulting protein product have not yet been determined. [provided by RefSeq, Sep 2017]. 111188157 0 0 0 0 0 0 0 0 0 ENSG00000284508 chr20 62564912 62565013 + MIR133A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406923 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284512 chr16 81022316 81096284 - AC092718.8 protein_coding 2 4 3 3 12 3 4 4 8 ENSG00000284513 chr12 4960113 4963450 + AC006063.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284516 chr4 82284971 82340013 + VAMP9P transcribed_unitary_pseudogene 105377307 0 0 2 0 0 0 0 0 0 ENSG00000284517 chr6 33287227 33287289 - MIR6873 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466754 0 0 0 0 0 0 0 0 0 ENSG00000284518 chr7 100156605 100156669 - MIR4658 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616439 0 0 0 0 0 0 0 0 0 ENSG00000284519 chr1 225922080 225922142 - MIR6741 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466270 0 0 0 0 0 0 0 0 0 ENSG00000284520 chr22 46113686 46113768 + MIRLET7B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406884 GO:1903561, GO:0070062, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:1903589, GO:1901299, GO:0070374, GO:0045766, GO:0043154, GO:0035195, GO:0035195, GO:0034614, GO:0010507, positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis, negative regulation of hydrogen peroxide-mediated programmed cell death, positive regulation of ERK1 and ERK2 cascade, positive regulation of angiogenesis, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, gene silencing by miRNA, gene silencing by miRNA, cellular response to reactive oxygen species, negative regulation of autophagy, 0 0 0 0 0 0 0 0 0 ENSG00000284522 chr12 7626103 7626486 + AC006927.3 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284523 chr7 99252452 99325826 - AC004834.1 antisense 0 0 1 0 0 0 0 0 0 ENSG00000284525 chr11 3856062 3856141 + MIR4687 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616453 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000284526 chr17 76563710 76570544 - AC015802.6 protein_coding 251 246 338 309 338 491 338 286 408 ENSG00000284532 chr17 28360654 28360734 + MIR4723 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616388 0 0 0 0 0 0 0 0 0 ENSG00000284534 chr7 63959844 63981477 - AC092634.8 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284535 chr11 62789815 62789885 + MIR6748 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465448 0 0 0 0 0 0 0 0 0 ENSG00000284536 chr13 91350605 91350688 + MIR17 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 406952 GO:1903561, GO:0070062, GO:0005739, GO:0005615, extracellular vesicle, extracellular exosome, mitochondrion, extracellular space, GO:1903231, GO:1903231, GO:1903231, GO:1903231, GO:0003730, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA binding involved in posttranscriptional gene silencing, mRNA 3'-UTR binding, GO:2001243, GO:2000773, GO:1905601, GO:1905460, GO:1905149, GO:1905111, GO:1905101, GO:1904707, GO:1904707, GO:1904707, GO:1904685, GO:1904598, GO:1904046, GO:1903671, GO:1903244, GO:1903206, GO:1902109, GO:1901300, GO:1900017, GO:0071456, GO:0071222, GO:0050766, GO:0048146, GO:0045777, GO:0043154, GO:0042985, GO:0035278, GO:0035278, GO:0035195, GO:0035195, GO:0035195, GO:0035195, GO:0034122, GO:0010989, GO:0010666, GO:0010629, GO:0003151, GO:0003085, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of cellular senescence, negative regulation of receptor-mediated endocytosis involved in cholesterol transport, negative regulation of vascular associated smooth muscle cell apoptotic process, positive regulation of smooth muscle hypertrophy, positive regulation of pulmonary blood vessel remodeling, negative regulation of apoptosome assembly, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of vascular associated smooth muscle cell proliferation, positive regulation of metalloendopeptidase activity, positive regulation of connective tissue replacement involved in inflammatory response wound healing, negative regulation of vascular endothelial growth factor production, negative regulation of sprouting angiogenesis, positive regulation of cardiac muscle hypertrophy in response to stress, negative regulation of hydrogen peroxide-induced cell death, negative regulation of mitochondrial membrane permeability involved in apoptotic process, positive regulation of hydrogen peroxide-mediated programmed cell death, positive regulation of cytokine production involved in inflammatory response, cellular response to hypoxia, cellular response to lipopolysaccharide, positive regulation of phagocytosis, positive regulation of fibroblast proliferation, positive regulation of blood pressure, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, negative regulation of amyloid precursor protein biosynthetic process, miRNA mediated inhibition of translation, miRNA mediated inhibition of translation, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, gene silencing by miRNA, negative regulation of toll-like receptor signaling pathway, negative regulation of low-density lipoprotein particle clearance, positive regulation of cardiac muscle cell apoptotic process, negative regulation of gene expression, outflow tract morphogenesis, negative regulation of systemic arterial blood pressure, 0 0 0 0 0 0 0 0 0 ENSG00000284538 chrX 134169538 134169612 - MIR92A2 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407049 GO:0035195, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284540 chr15 47133495 47134122 - AC066615.1 TEC 0 1 0 0 0 0 0 0 0 ENSG00000284541 chr16 28958583 28958661 + MIR4517 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616487 0 0 0 0 0 0 0 0 0 ENSG00000284542 chr17 56891270 56891355 - MIR3614 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100500827 0 0 0 0 0 0 0 0 0 ENSG00000284543 chr1 31506226 31583306 + LINC01226 processed_transcript 0 0 0 0 2 0 3 0 1 ENSG00000284544 chr19 45638994 45639087 - MIR330 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 442902 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0035195, gene silencing by miRNA, gene silencing by miRNA, 0 0 0 0 0 0 0 0 0 ENSG00000284546 chr11 4329865 4330449 + SSU72P3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284547 chr9 127785918 127786007 + MIR2861 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of target mRNAs. This microRNA may play a role in osteoblast differentiation and a mutation in this gene is associated with osteoporosis. Altered expression of this microRNA has been observed in human cancers, with reduced expression seen in cervical cancer, while expression in papillary thyroid carcinoma (PTC) is increased. [provided by RefSeq, Mar 2017]. 100422910 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000284550 chr21 6859171 6859256 + MIR8069-1 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466252 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000284553 chr19 11113474 11113534 + MIR6886 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465534 0 0 0 0 0 0 0 0 0 ENSG00000284554 chr22 39014363 39033276 + AL022318.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284557 chr15 101960459 101960596 - MIR1302-10 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100422834 0 0 0 0 0 0 0 0 0 ENSG00000284558 chr7 57191997 57192337 + AC099654.13 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284561 chr3 134437827 134437906 + MIR4788 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616281 GO:0070062, extracellular exosome, 0 0 0 0 0 0 0 0 0 ENSG00000284564 chr17 64500774 64500839 - MIR3064 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616387 0 0 0 0 0 0 0 0 0 ENSG00000284565 chr17 28861369 28861440 - MIR451A miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 574411 GO:1903561, GO:0070062, GO:0005615, GO:0005615, extracellular vesicle, extracellular exosome, extracellular space, extracellular space, GO:2000134, GO:1904754, GO:0051898, GO:0043065, GO:0035470, GO:0035195, GO:0030336, GO:0010629, negative regulation of G1/S transition of mitotic cell cycle, positive regulation of vascular associated smooth muscle cell migration, negative regulation of protein kinase B signaling, positive regulation of apoptotic process, positive regulation of vascular wound healing, gene silencing by miRNA, negative regulation of cell migration, negative regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000284567 chrX 66018870 66018979 + MIR223 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 407008 GO:0070062, GO:0048471, GO:0005615, GO:0005615, extracellular exosome, perinuclear region of cytoplasm, extracellular space, extracellular space, GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:2001198, GO:1904753, GO:1904706, GO:1903078, GO:1901342, GO:1901223, GO:0090024, GO:0060547, GO:0050728, GO:0046326, GO:0045649, GO:0042742, GO:0035195, GO:0035195, GO:0034260, GO:0010628, regulation of dendritic cell differentiation, negative regulation of vascular associated smooth muscle cell migration, negative regulation of vascular associated smooth muscle cell proliferation, positive regulation of protein localization to plasma membrane, regulation of vasculature development, negative regulation of NIK/NF-kappaB signaling, negative regulation of neutrophil chemotaxis, negative regulation of necrotic cell death, negative regulation of inflammatory response, positive regulation of glucose import, regulation of macrophage differentiation, defense response to bacterium, gene silencing by miRNA, gene silencing by miRNA, negative regulation of GTPase activity, positive regulation of gene expression, 0 0 0 0 0 0 0 0 0 ENSG00000284568 chr19 53787677 53787742 - MIR371B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616185 0 0 0 0 0 0 0 0 0 ENSG00000284570 chr8 100702968 100703024 - MIR7705 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466854 0 0 0 0 0 0 0 0 0 ENSG00000284572 chr7 57196056 57196564 - AC099654.14 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284574 chr17 82236668 82236728 + MIR6787 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465472 0 0 0 0 0 0 0 0 0 ENSG00000284575 chr3 48644194 48644280 - MIR4793 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616112 0 0 0 0 0 0 0 0 0 ENSG00000284583 chr19 53982307 53982397 + MIR935 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126325 GO:1903231, mRNA binding involved in posttranscriptional gene silencing, GO:0035195, GO:0032711, gene silencing by miRNA, negative regulation of interleukin-27 production, 0 0 0 0 0 0 0 0 0 ENSG00000284584 chr13 41568286 41568395 - MIR5006 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100847026 0 0 0 0 0 0 0 0 0 ENSG00000284585 chr16 88716278 88716337 - MIR4722 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616167 0 0 0 0 0 0 0 0 0 ENSG00000284586 chr1 155195177 155195272 + MIR92B miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 693235 GO:1903561, GO:0005615, extracellular vesicle, extracellular space, 0 0 0 0 0 0 0 0 0 ENSG00000284587 chr4 1986384 1986477 - MIR943 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100126332 0 0 0 0 0 0 0 0 0 ENSG00000284591 chr12 7620542 7621450 + AC006927.4 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284592 chr1 157203604 157205062 - AL357143.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284594 chr11 1880045 1880147 + MIR7847 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102465993 GO:0070062, extracellular exosome, 3 2 2 8 0 0 6 1 0 ENSG00000284595 chr17 75498548 75498628 + MIR6785 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 102466911 0 0 0 0 0 0 0 0 0 ENSG00000284596 chr7 102471469 102471531 + MIR4467 miRNA microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]. 100616367 GO:1903561, extracellular vesicle, 0 0 0 0 0 0 0 0 0 ENSG00000284600 chr2 1795525 1811526 + AC093390.2 antisense 0 0 0 0 0 0 0 1 0 ENSG00000284601 chr1 54974900 54980464 - AL590440.2 bidirectional_promoter_lncRNA 105378736 0 0 0 2 1 0 0 0 0 ENSG00000284602 chr1 25232586 25234775 + AL031432.4 bidirectional_promoter_lncRNA 2 3 1 5 2 4 5 4 6 ENSG00000284603 chr8 8059459 8059674 + AC105233.4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284604 chr2 131303037 131355683 + AC073869.7 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284605 chr11 3429758 3500621 - AC127526.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284606 chr8 8059572 8199973 + AC105233.5 processed_transcript 6 7 8 12 7 10 6 2 0 ENSG00000284607 chr6 26569324 26574698 + AL121936.1 lincRNA 105374988 0 0 0 1 0 0 0 0 0 ENSG00000284608 chr2 46429195 46484424 + AC016912.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284609 chr11 124395534 124399024 - OR8B3 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 390271 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000284610 chr8 12006188 12015193 - AC107918.4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284611 chr9 66182326 66188451 + AL513478.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284612 chr9 38650215 38662717 + AL591543.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284613 chr8 12665278 12665495 - AC068587.5 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284614 chr8 7221713 7221930 - AF228730.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284615 chr6 152112759 152118397 + AL078582.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000284616 chr1 5301928 5307394 - AL139823.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284617 chr8 7611473 7611690 + AC134684.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284618 chrX 81000150 81004217 - AL391294.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284619 chr2 129988158 129990530 - AC079776.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284620 chr8 7092102 7187316 + AF228730.5 transcribed_unprocessed_pseudogene 1 0 0 0 0 0 0 0 0 ENSG00000284621 chr22 21661859 21661929 - AP000553.4 unitary_pseudogene 0 0 0 0 0 0 0 0 1 ENSG00000284622 chr2 227608784 227609101 + SCYGR10 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284623 chr1 38129464 38140593 - AL139158.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284624 chr3 125766516 125852936 + AC092902.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284625 chr11 71639551 71639769 + AP000867.4 unprocessed_pseudogene 0 6 3 0 0 0 0 0 0 ENSG00000284626 chr15 90234200 90265462 + AC091167.7 protein_coding 0 0 0 1 0 0 0 0 0 ENSG00000284627 chr7 97928082 97928300 - AC079781.4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284628 chr15 28444144 28444264 + AC091304.10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284629 chr2 227387683 227387949 - SCYGR1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284630 chr22 21657811 21661021 + AP000553.5 transcribed_unitary_pseudogene 0 0 0 0 0 0 3 0 0 ENSG00000284631 chr2 227616998 227618655 + SCYGR4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284632 chr1 38754216 38815979 - AL354702.2 lincRNA 1 0 0 0 1 0 0 0 0 ENSG00000284633 chr22 39242188 39279897 + AL031590.1 antisense 0 1 2 3 0 1 0 0 0 ENSG00000284634 chr12 9448295 9658392 + AC092821.3 processed_transcript 40 20 56 213 49 120 109 51 113 ENSG00000284635 chr2 227745845 227746681 + SCYGR8 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284636 chr4 9000841 9001058 + AC073648.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284637 chr1 89203280 89203464 - AC099063.3 unprocessed_pseudogene 0 0 2 0 0 0 0 0 0 ENSG00000284638 chr19 3482804 3483446 - AC005551.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284639 chr11 3580927 3581135 - AP006294.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284640 chr1 35141515 35146435 - AL590434.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284641 chr1 20476222 20478937 + AL139254.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284642 chr1 10395416 10397432 + AL139424.2 lincRNA 11 15 11 15 29 48 15 14 21 ENSG00000284643 chr2 227598893 227599255 + SCYGR2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284644 chr7 144251264 144355707 - AC074386.1 antisense 1 0 0 0 0 0 0 0 0 ENSG00000284645 chr1 50252569 50258994 + AL592182.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284646 chr1 11311734 11319093 - AL031291.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284648 chr4 9532429 9532647 + AC097493.4 unprocessed_pseudogene 1 0 3 0 0 0 0 0 4 ENSG00000284649 chr16 29113050 29217860 + AC009093.8 transcribed_unprocessed_pseudogene 12 13 4 17 9 6 15 23 7 ENSG00000284650 chr1 37133489 37136146 + AL031430.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284651 chr22 21661242 21661295 - AP000553.6 unitary_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000284652 chr1 9421098 9422862 - BX323043.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284653 chr1 18015712 18045612 + AL357509.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284654 chr22 21661476 21661593 - AP000553.7 unitary_pseudogene 0 0 0 0 0 0 1 0 0 ENSG00000284655 chr8 7680309 7680526 - AC084121.3 unprocessed_pseudogene 0 0 0 0 1 0 0 0 0 ENSG00000284656 chr6 29162475 29166201 - AL645937.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284657 chr1 25239494 25240253 + AL031432.5 lincRNA 4 1 6 2 4 0 1 8 0 ENSG00000284658 chr9 66204896 66208833 - AL513478.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284659 chr2 131419665 131419784 - AC073869.8 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284660 chr3 125766601 125766818 + AC092902.6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284661 chr8 8065599 8065816 + AC105233.6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284662 chr1 685679 686673 - OR4F16 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 81399 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000284663 chr8 12607291 12607509 - AC068587.6 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284664 chr14 64349677 64352284 - AL161756.3 lincRNA 0 0 0 2 0 0 1 0 0 ENSG00000284665 chr22 21071082 21081018 - AC002472.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284666 chr1 5480787 5482028 - Z98259.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284667 chr2 227666804 227667061 + SCYGR5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284668 chr1 3976133 4012699 + AL805961.1 lincRNA 105376673 0 0 0 0 0 0 0 0 0 ENSG00000284669 chr3 39148281 39172952 + AC092053.3 antisense 38 100 82 2159 3274 2912 2472 1807 1944 ENSG00000284670 chr16 73940639 73941781 - AC092128.1 translated_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284671 chr16 29075022 29104162 + AC009093.9 transcribed_unprocessed_pseudogene 0 1 0 0 0 0 1 0 0 ENSG00000284672 chr3 46742092 46812558 - AC109583.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284673 chr12 8396423 8396641 - AC092865.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284674 chr1 4973381 4981568 + BX005132.1 lincRNA 105376680 0 0 0 0 0 0 0 0 0 ENSG00000284675 chr16 73123296 73137580 + AC116667.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284676 chr1 29755175 29790597 + AL645944.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284677 chr1 40436199 40450039 - AL031985.4 lincRNA 3 2 0 1 8 13 0 6 11 ENSG00000284678 chr1 39801414 39817460 - AL033527.4 lincRNA 0 1 0 0 1 0 4 1 0 ENSG00000284679 chr13 18248913 18249035 - AL356585.10 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284680 chr11 124382394 124384462 - OR8B2 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 26595 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005549, GO:0004984, GO:0004930, odorant binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007608, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000284681 chr2 10122739 10199288 + AC007240.1 protein_coding 0 0 0 6 0 0 0 0 0 ENSG00000284682 chr12 30306065 30307611 + AC078776.2 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284684 chr4 6064977 6070162 - AC092442.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284685 chr16 29139379 29331304 + AC009093.10 processed_transcript 7 8 10 8 8 0 6 13 5 ENSG00000284686 chr1 56173433 56524495 - AC119674.2 protein_coding 0 0 0 0 0 0 0 1 0 ENSG00000284687 chr12 8390270 8390488 - AC092865.4 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284688 chr6 26477872 26478533 + AL121936.2 unprocessed_pseudogene 2 1 0 0 0 5 1 4 2 ENSG00000284689 chr4 9468974 9469983 + OR7E84P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284690 chr17 74560701 74567343 - CD300H polymorphic_pseudogene This gene belongs to the CD300 gene family, which in turn, belongs to the immunoglobulin (Ig) superfamily. This gene is located within a CD300 cluster on chromosome 17. The encoded protein may be involved in innate immunity as well as autoimmune response. A G>A mutation, represented by the single nucleotide polymorphism (SNP) rs905709, at the splice donor site of the 5' terminal exon may be associated with lack of expression of this gene in homozygous (AA) individuals. The human reference assembly (GRCh38.p2) represents the 'A' allele at this SNP. [provided by RefSeq, Apr 2016]. 100130520 GO:0016021, GO:0005886, GO:0005576, integral component of membrane, plasma membrane, extracellular region, GO:0042803, GO:0005515, GO:0004888, protein homodimerization activity, protein binding, transmembrane signaling receptor activity, GO:0030593, GO:0001816, neutrophil chemotaxis, cytokine production, 169 1 1 53 0 3 51 1 0 ENSG00000284691 chr7 150400702 150412470 + AC073111.5 protein_coding 8 4 17 48 10 49 17 11 10 ENSG00000284692 chr1 5478736 5493057 - Z98259.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284693 chr1 9425094 9440564 - AL928921.2 lincRNA 100506022 0 0 0 0 0 0 0 0 0 ENSG00000284694 chr1 4479131 4484375 - AL355602.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284695 chr4 69810780 69847786 - AC108941.2 protein_coding 0 0 0 0 0 2 0 1 0 ENSG00000284696 chr1 50229662 50321170 - AL596275.2 lincRNA 105378712 0 0 0 0 0 0 0 0 0 ENSG00000284697 chr12 8082269 8138548 + AC006511.5 processed_transcript 19 8 16 4 6 3 4 6 11 ENSG00000284698 chr8 7686423 7686643 - AC084121.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284699 chr1 24704894 24717596 + AL445648.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284700 chr1 50423609 50425316 + AL049637.2 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000284701 chr2 46479565 46484425 + TMEM247 protein_coding 388946 GO:0016021, GO:0005783, integral component of membrane, endoplasmic reticulum, 0 0 0 0 0 0 0 0 0 ENSG00000284702 chr1 31972189 31987034 - AL136115.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284703 chr1 4012921 4019508 - AL805961.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284704 chr2 227614538 227614840 - SCYGR3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284705 chr1 36703953 36710582 + AL596257.1 lincRNA 0 2 0 0 0 0 0 0 0 ENSG00000284706 chr2 131335502 131355769 + AC073869.9 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284707 chr7 97851688 97972985 - AC079781.5 processed_transcript 3 3 7 5 0 0 5 4 11 ENSG00000284708 chr1 11623558 11643416 + AL031731.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000284709 chr15 81385390 81385774 + KF456110.1 processed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000284710 chr1 20272018 20275005 + Z98257.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284711 chr19 50808145 50812707 - AC010325.3 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284713 chr11 69155478 69159752 + AP003071.5 protein_coding 107984345 GO:0016021, integral component of membrane, 10 11 1 5 18 2 12 8 15 ENSG00000284715 chr11 104975356 104976116 - AP001153.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 2 ENSG00000284716 chr1 7998187 7999934 - AL034417.3 lincRNA 0 0 0 1 0 0 1 0 1 ENSG00000284717 chr8 8714055 8719536 - AC087269.2 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284718 chr2 227728335 227728625 + SCYGR7 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284719 chr1 39799422 39809450 + AL033527.5 lincRNA 0 1 2 2 2 5 3 0 0 ENSG00000284720 chr1 36768122 36769725 - AC117945.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284721 chr1 33194788 33200353 + AL662907.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284722 chr11 75069243 75096964 - AP003175.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284723 chr12 48525632 48528103 + OR8S1 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 341568 GO:0016021, GO:0005886, GO:0005886, integral component of membrane, plasma membrane, plasma membrane, GO:0004984, GO:0004930, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000284724 chr8 12659130 12659348 - AC068587.7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284725 chr2 227724440 227724757 - SCYGR6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284726 chr1 23297797 23302866 + AL109936.6 lincRNA 0 0 0 0 0 0 0 0 2 ENSG00000284727 chr4 4048211 4107583 - AC116562.4 transcribed_unprocessed_pseudogene 0 2 1 3 1 7 0 0 0 ENSG00000284728 chr8 7227853 7228073 - AF228730.6 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284729 chr19 56707293 56791197 + AC006115.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000284730 chr12 51813940 51814926 - AC068987.5 protein_coding 0 0 0 1 0 0 0 0 0 ENSG00000284731 chr3 130002789 130003007 - AC083906.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284732 chr11 56459221 56473352 - AP002512.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284733 chr1 450703 451697 - OR4F29 protein_coding Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. 729759 GO:0016021, GO:0005886, integral component of membrane, plasma membrane, GO:0005515, GO:0004984, GO:0004930, protein binding, olfactory receptor activity, G protein-coupled receptor activity, GO:0050911, GO:0007186, detection of chemical stimulus involved in sensory perception of smell, G protein-coupled receptor signaling pathway, 0 0 0 0 0 0 0 0 0 ENSG00000284734 chr1 89198714 89207040 + AC099063.4 antisense 11 13 51 11 13 20 17 5 18 ENSG00000284735 chr1 10381906 10387150 - AL139424.3 lincRNA 7 16 10 17 16 18 12 12 8 ENSG00000284736 chr11 74198748 74198854 - RNA5SP343 rRNA 0 0 0 0 0 0 0 0 0 ENSG00000284737 chr9 67901099 67920552 + BX649567.1 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284738 chr1 153923337 153935240 + AL358472.5 antisense 101928059 97 138 137 185 235 176 150 156 165 ENSG00000284739 chr1 4963954 4973298 - BX005132.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284740 chr1 1503250 1509452 + AL645728.2 transcribed_unprocessed_pseudogene 0 0 1 1 0 0 2 0 0 ENSG00000284741 chr2 177628069 178108339 - PDE11A protein_coding The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 50940 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0047555, GO:0046872, GO:0030553, GO:0004118, GO:0004118, GO:0004114, GO:0004112, 3',5'-cyclic-GMP phosphodiesterase activity, metal ion binding, cGMP binding, cGMP-stimulated cyclic-nucleotide phosphodiesterase activity, cGMP-stimulated cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, cyclic-nucleotide phosphodiesterase activity, GO:0043951, GO:0010754, GO:0008152, GO:0007186, GO:0007165, negative regulation of cAMP-mediated signaling, negative regulation of cGMP-mediated signaling, metabolic process, G protein-coupled receptor signaling pathway, signal transduction, 0 0 0 0 0 0 0 0 0 ENSG00000284742 chr14 20183925 20184298 - OR11P1P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284743 chr1 20478779 20480397 - AL139254.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284744 chr1 6767954 6770038 + AL591163.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284745 chr1 2960658 2968707 - AL589702.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284746 chr8 12601158 12601376 - AC068587.8 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284747 chr1 7991134 8005312 + AL034417.4 antisense 3 7 6 15 10 2 3 5 3 ENSG00000284748 chr1 37596126 37607336 + AL513220.1 bidirectional_promoter_lncRNA 1 0 0 1 0 0 0 1 0 ENSG00000284753 chr3 184249650 184259585 + EEF1AKMT4 protein_coding This gene encodes a member of the lysine-specific methyltransferase (KMT) family. The encoded enzyme catalyzes the methylation of lysine-36 of the eukaryotic translation elongation factor 1 alpha. Methylation by this enzyme may affect endoplasmic reticulum-related processes. [provided by RefSeq, Jul 2017]. 110599564 GO:0016279, GO:0008168, protein-lysine N-methyltransferase activity, methyltransferase activity, GO:0018022, peptidyl-lysine methylation, 1 0 0 0 0 0 5 0 0 ENSG00000284755 chr1 111722064 111755824 - AL049557.1 protein_coding 1 6 4 0 1 4 0 0 0 ENSG00000284762 chr5 77086732 77427124 + AC022414.1 protein_coding The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]. 8622 GO:0005829, GO:0005575, cytosol, cellular_component, GO:0046872, GO:0004115, GO:0004115, GO:0004114, metal ion binding, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, GO:0007186, GO:0007165, GO:0006198, G protein-coupled receptor signaling pathway, signal transduction, cAMP catabolic process, 0 0 0 0 0 0 0 0 0 ENSG00000284763 chr9 113065535 113065956 - AL449105.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284770 chr1 235367360 235452443 + TBCE protein_coding Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6905 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0051087, GO:0043014, GO:0005515, chaperone binding, alpha-tubulin binding, protein binding, GO:0007052, GO:0007023, GO:0007023, GO:0007021, GO:0006457, GO:0000226, GO:0000226, mitotic spindle organization, post-chaperonin tubulin folding pathway, post-chaperonin tubulin folding pathway, tubulin complex assembly, protein folding, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 11 22 18 24 17 32 16 17 21 ENSG00000284772 chr15 43614208 43632283 - AC011330.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284773 chr1 34974356 34985313 - AC114490.3 protein_coding 1 7 5 2 2 9 5 4 0 ENSG00000284776 chr20 18567453 18744216 + AL121900.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284779 chr11 2129112 2158658 - IGF2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284783 chr15 30750406 30759859 + AC091057.5 transcribed_unprocessed_pseudogene 0 0 0 3 0 0 0 0 0 ENSG00000284788 chr15 21542990 21544008 - AC183088.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284791 chr12 52079696 52108239 + OR7E47P protein_coding 113523638 0 0 0 0 0 0 0 0 0 ENSG00000284797 chr19 18249950 18255419 - AC008397.1 protein_coding 729966 0 0 0 0 0 0 4 0 0 ENSG00000284800 chrX 102360395 102471812 - AC235565.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284803 chr15 82533175 82540008 - AC245033.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284808 chr1 61481087 61533271 + AC099791.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284809 chr13 76833839 76846594 + AL365394.1 lincRNA 0 1 0 2 0 0 0 0 0 ENSG00000284820 chr2 219209772 219222738 - AC068946.2 protein_coding 3 1 4 0 3 2 6 3 3 ENSG00000284823 chr6 4714098 4724885 - AL356747.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000284824 chr1 247524679 247532613 - GCSAML-AS1 protein_coding 148824 0 0 0 0 0 0 0 0 0 ENSG00000284825 chr6 167114957 167121527 - AL121935.1 lincRNA 5 9 5 0 0 0 0 2 0 ENSG00000284826 chr12 10881011 10884255 - AC006518.7 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284828 chr3 108031003 108032261 - AC012020.2 TEC 9 10 12 17 12 16 22 13 13 ENSG00000284829 chr6 32098176 32117610 - AL662884.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284830 chr1 111745299 111755537 - AL049557.2 bidirectional_promoter_lncRNA 101928718 25 35 25 10 39 16 44 42 9 ENSG00000284834 chr15 21534404 21535346 + AC183088.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284837 chr17 5772234 5930696 + AC007846.1 lincRNA 339166 0 0 0 0 0 0 0 0 0 ENSG00000284839 chr7 32427901 32431804 + AC018637.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284840 chr7 99032894 99032940 + AC004893.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284842 chr1 149675205 149677740 + FAM91A2P transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284844 chr11 72105924 72109329 + AP000812.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284846 chr1 86821558 86834169 - AL355981.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284847 chr4 6658690 6658981 + AC093323.4 unprocessed_pseudogene 0 0 1 0 0 0 0 0 0 ENSG00000284848 chr12 126095992 126177632 + LINC02359 lincRNA 101927464 0 0 0 0 0 0 0 0 0 ENSG00000284858 chr8 25276945 25277476 - AC091185.2 processed_pseudogene 9 16 13 16 44 17 18 24 7 ENSG00000284862 chr3 180602858 180679500 - CCDC39 protein_coding The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]. 339829 GO:0005930, GO:0005930, GO:0005929, GO:0005829, GO:0005576, axoneme, axoneme, cilium, cytosol, extracellular region, GO:0071910, GO:0071907, GO:0070286, GO:0060287, GO:0060287, GO:0060285, GO:0060285, GO:0044458, GO:0036159, GO:0036159, GO:0035469, GO:0030324, GO:0030317, GO:0003356, GO:0003341, GO:0003341, GO:0001947, determination of liver left/right asymmetry, determination of digestive tract left/right asymmetry, axonemal dynein complex assembly, epithelial cilium movement involved in determination of left/right asymmetry, epithelial cilium movement involved in determination of left/right asymmetry, cilium-dependent cell motility, cilium-dependent cell motility, motile cilium assembly, inner dynein arm assembly, inner dynein arm assembly, determination of pancreatic left/right asymmetry, lung development, flagellated sperm motility, regulation of cilium beat frequency, cilium movement, cilium movement, heart looping, 46 54 85 91 52 128 92 59 120 ENSG00000284867 chr9 113081871 113082292 - AL449105.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284873 chr11 59938432 59957480 + OOSP1 protein_coding 0 0 0 3 0 0 0 0 0 ENSG00000284874 chr22 19717220 19724772 + SEPT5-GP1BB protein_coding 0 3 9 2 2 0 1 5 2 ENSG00000284876 chr17 10794906 10838094 - AC015908.6 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000284879 chr2 87455476 87767359 + AC133644.3 processed_transcript 3 11 4 11 3 3 31 19 5 ENSG00000284882 chr1 84574129 84583620 + AL359762.1 bidirectional_promoter_lncRNA 594 461 659 120 273 184 172 288 230 ENSG00000284883 chr12 52263948 52267461 + AC021066.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284892 chr15 22056709 22057638 + OR4H6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284895 chr1 41585306 41628816 - AC119676.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284902 chr2 73469525 73471030 + AC074008.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000284906 chr15 30624548 30685606 + AC091057.6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284914 chr6 167126223 167131572 - AL121935.2 lincRNA 3 0 3 0 0 0 0 0 0 ENSG00000284917 chr3 184249695 184293031 + EEF1AKMT4-ECE2 protein_coding This gene represents naturally occurring readthrough transcription between adjacent genes eukaryotic translation elongation factor 1 alpha lysine methyltransferase 4 (GeneID: 110599564) and endothelin converting enzyme 2 (GeneID:9718). The readthrough transcript representing this gene encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2017]. 110599583 GO:0030658, GO:0016021, GO:0005886, GO:0000139, transport vesicle membrane, integral component of membrane, plasma membrane, Golgi membrane, GO:0046872, GO:0008168, GO:0004222, GO:0004222, metal ion binding, methyltransferase activity, metalloendopeptidase activity, metalloendopeptidase activity, GO:0032259, GO:0016485, GO:0010002, GO:0007507, GO:0007420, GO:0006508, methylation, protein processing, cardioblast differentiation, heart development, brain development, proteolysis, 0 0 0 0 0 0 0 0 0 ENSG00000284922 chr11 72080777 72110782 + AP000812.5 protein_coding This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017]. 220074 GO:0016021, GO:0005886, GO:0005783, GO:0005575, integral component of membrane, plasma membrane, endoplasmic reticulum, cellular_component, GO:0102938, GO:0102084, GO:0016206, GO:0016206, GO:0016206, GO:0008171, orcinol O-methyltransferase activity, L-dopa O-methyltransferase activity, catechol O-methyltransferase activity, catechol O-methyltransferase activity, catechol O-methyltransferase activity, O-methyltransferase activity, GO:0060117, GO:0042424, GO:0042424, GO:0042417, GO:0042135, GO:0032502, GO:0032259, GO:0007605, auditory receptor cell development, catecholamine catabolic process, catecholamine catabolic process, dopamine metabolic process, neurotransmitter catabolic process, developmental process, methylation, sensory perception of sound, 0 0 0 0 0 0 0 0 0 ENSG00000284928 chr1 64186791 64192685 + AL445205.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284930 chr14 73458850 73466167 - AC005280.2 lincRNA 101928143 213 206 352 193 128 234 263 143 216 ENSG00000284931 chr11 5248270 5254783 - AC104389.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284932 chr2 68117026 68117200 + AC017083.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284934 chr12 122207662 122227534 - DIABLO protein_coding 0 0 0 1 0 0 0 1 0 ENSG00000284946 chr15 90966190 91022566 - AC068831.7 protein_coding 9 15 13 14 7 16 26 6 12 ENSG00000284948 chr8 23084355 23103558 + AC107959.4 lincRNA 254896 159 102 314 104 113 283 108 67 214 ENSG00000284951 chr10 26379034 26387374 - AL355798.1 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284952 chr3 155763043 155854442 - AC104472.3 protein_coding 0 0 0 2 0 0 0 0 0 ENSG00000284954 chr6 32152802 32154365 - AL662884.3 bidirectional_promoter_lncRNA 100507547 0 0 0 0 0 0 0 0 2 ENSG00000284956 chr8 23084403 23115536 + AC107959.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284957 chr8 11479203 11481068 - AF131216.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000284959 chr14 81012099 81170414 - AC007262.2 antisense 0 0 1 3 1 6 0 2 0 ENSG00000284962 chr9 113070983 113071404 - AL449105.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284964 chr1 149607467 149608516 + AC242842.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284966 chr13 106491147 106521630 + AL138689.2 antisense 5 9 12 27 6 1 5 2 0 ENSG00000284968 chr4 86924630 86936202 - AC093827.4 antisense 1 0 0 1 3 0 1 0 0 ENSG00000284969 chr11 33698261 33722467 - AL049629.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284976 chr9 137217452 137219361 + BX255925.3 protein_coding 81 107 147 179 224 212 184 120 174 ENSG00000284977 chr9 117759455 117879988 + AL160272.1 lincRNA 51 77 61 59 114 117 95 65 111 ENSG00000284981 chr7 102538417 102543849 - AC093668.3 protein_coding 107983993 GO:0016021, integral component of membrane, 0 6 0 1 6 3 1 5 1 ENSG00000284985 chr20 58948089 58948267 - AL109840.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284986 chr9 52452 73374 - AL449043.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000284987 chrX 153872221 153909223 - U52112.1 protein_coding 2 0 1 1 4 3 1 0 0 ENSG00000284988 chr15 21552815 21557161 + LINC02203 lincRNA 727924 0 0 0 0 0 0 0 0 0 ENSG00000284989 chr1 43650149 43931014 + AL451062.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000284994 chrX 135327758 135330743 + AL590282.2 lincRNA 4 2 3 5 7 8 14 11 9 ENSG00000284999 chr6 105679378 105893041 - AL591518.1 lincRNA 1 0 1 0 0 0 0 0 0 ENSG00000285000 chr5 77030902 77152155 + AC008581.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285006 chr14 73366897 73463642 - AC005280.3 processed_transcript 0 1 0 0 0 0 0 0 0 ENSG00000285010 chr11 59964033 59970146 + OOSP4A protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285012 chr16 85986764 85995899 - AC092723.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285016 chr2 111429324 111699033 - AC017002.6 processed_transcript 0 0 0 1 0 0 0 0 0 ENSG00000285018 chrX 154374595 154376934 + AC245140.3 antisense 0 2 0 3 1 0 0 0 0 ENSG00000285020 chr16 28612131 28614884 - AC020765.5 unprocessed_pseudogene 0 0 0 0 1 0 0 1 0 ENSG00000285025 chr22 39504231 39504443 + AL022312.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285030 chr12 95885169 95885797 + AC090001.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285035 chr15 30644633 30723495 + AC091057.7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285040 chr16 85963328 85985386 - AC092723.4 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000285041 chr1 68633701 68640425 + AL035412.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285042 chr5 25188059 25188778 - AC099499.2 lincRNA 0 0 0 0 0 1 0 0 0 ENSG00000285043 chr16 30053090 30070420 + AC093512.2 protein_coding 112694756 5 6 4 3 6 17 24 5 0 ENSG00000285045 chr22 16953895 16956808 + AC006548.3 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285051 chr3 170448639 170860993 + AC026316.4 processed_transcript 101928583 0 0 0 0 0 0 0 0 1 ENSG00000285053 chr1 235328570 235448952 + TBCE protein_coding Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. 6905 GO:0005874, GO:0005737, microtubule, cytoplasm, GO:0051087, GO:0043014, GO:0005515, chaperone binding, alpha-tubulin binding, protein binding, GO:0007052, GO:0007023, GO:0007023, GO:0007021, GO:0006457, GO:0000226, GO:0000226, mitotic spindle organization, post-chaperonin tubulin folding pathway, post-chaperonin tubulin folding pathway, tubulin complex assembly, protein folding, microtubule cytoskeleton organization, microtubule cytoskeleton organization, 5 17 13 18 17 18 15 13 33 ENSG00000285057 chr17 43131208 43131270 + AC135721.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285062 chr1 148458643 148459689 - AC245100.9 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285064 chr6 33321386 33329286 - AL662820.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285068 chr2 73352610 73385677 - AC074008.2 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285076 chr9 113076429 113076850 - AL449105.4 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285077 chr15 30624494 30638805 + ARHGAP11B protein_coding 89839 GO:0005829, cytosol, GO:0005096, GTPase activator activity, GO:0051056, GO:0043547, GO:0021987, GO:0007165, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, cerebral cortex development, signal transduction, 1 3 0 4 0 0 0 2 0 ENSG00000285079 chr1 65703962 65714847 + AL513493.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285080 chr15 43106225 43185779 - AC068724.3 antisense 15 21 17 19 23 24 23 11 10 ENSG00000285081 chr7 29191582 29194109 - AC004593.2 sense_intronic 0 0 0 0 0 5 0 0 0 ENSG00000285082 chr9 117704157 117877478 + AL160272.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285085 chr6 32150495 32154373 - AL662884.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285090 chr7 94278680 94395608 - AC002074.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285091 chr20 58916000 58981169 - AL109840.2 bidirectional_promoter_lncRNA 2 1 4 4 8 7 0 0 6 ENSG00000285094 chr11 69481662 69494952 + LINC01488 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285095 chr18 32470288 32745567 + AC025887.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285100 chr20 38270778 38274020 + AL359555.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285102 chr12 52275821 52277736 + AC021066.3 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285103 chr9 27529085 27543902 + AL451123.1 antisense 413 792 1102 165 348 306 204 238 248 ENSG00000285106 chr7 130791264 131110161 - AC016831.6 lincRNA 185 143 132 147 134 164 206 144 98 ENSG00000285108 chr8 129685401 129723023 - AC103718.1 lincRNA 2 0 1 3 5 0 1 0 3 ENSG00000285115 chr9 113060086 113060507 - AL162588.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285116 chr15 21614118 21615051 + AC135068.10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285117 chr15 43179793 43206481 - AC068724.4 processed_transcript 0 0 0 1 0 0 0 0 1 ENSG00000285122 chr4 88523826 88524983 + AC083829.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285128 chr19 44803701 44804010 + AC092306.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285130 chr9 69035750 69255187 + AL358113.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285133 chr12 57517712 57520480 - AC022506.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285135 chr15 22044476 22045400 + OR4Q1P transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285138 chr19 58581426 58581912 + AC016629.3 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285142 chr12 7637396 7647086 - AC006927.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285144 chr20 38260149 38304332 + AL359555.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285151 chr5 70055820 70057416 - AC140134.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285155 chr2 160141981 160271888 - AC092153.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285159 chr6 158853588 158864502 + AL627422.2 lincRNA 2 1 1 2 0 0 0 3 0 ENSG00000285160 chr13 52167954 52168321 - AL139082.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285162 chr7 29122340 29514667 + AC004593.3 protein_coding This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]. 1124 GO:0045202, GO:0016020, GO:0005829, synapse, membrane, cytosol, GO:0046872, GO:0005515, GO:0005096, GO:0005096, metal ion binding, protein binding, GTPase activator activity, GTPase activator activity, GO:0051056, GO:0043547, GO:0043087, GO:0035556, regulation of small GTPase mediated signal transduction, positive regulation of GTPase activity, regulation of GTPase activity, intracellular signal transduction, 7 1 5 16 9 10 8 11 2 ENSG00000285163 chr16 85924984 85948824 + AC092723.5 lincRNA 0 0 0 0 0 2 0 0 0 ENSG00000285165 chr7 50388489 50400097 - AC124014.1 antisense 104 138 151 94 77 120 87 71 122 ENSG00000285169 chr9 16982723 16983459 - AL358117.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285171 chrX 71103987 71111575 - AL590764.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285177 chr1 235366353 235367366 - AL357556.4 antisense 0 1 0 0 0 0 0 0 0 ENSG00000285179 chr1 81209834 81222076 + AC093154.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285184 chr1 150045660 150067701 - AC244033.2 bidirectional_promoter_lncRNA 0 1 0 0 0 0 0 0 0 ENSG00000285188 chr19 18207961 18255419 - AC008397.2 protein_coding 1 0 0 0 0 0 0 0 0 ENSG00000285190 chr5 87412342 87499340 + AC018754.1 antisense 156 143 283 119 139 176 161 95 126 ENSG00000285191 chr12 84147304 84154338 - AC090679.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285201 chr1 84038529 84065031 + AC104454.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285204 chr5 70931244 70932840 - AC139834.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285205 chr14 94770271 94774858 + AL121612.2 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285210 chr1 86288704 86320711 - AL136382.1 lincRNA 2 3 2 8 6 0 1 5 12 ENSG00000285212 chr6 167796647 167825145 + AL009178.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285215 chr1 120963645 120977585 + AC241377.4 transcribed_unprocessed_pseudogene 2 5 6 3 15 17 2 6 10 ENSG00000285216 chr6 8158162 8760447 + AL355499.2 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285218 chr3 170418868 170860380 + AC026316.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285219 chr6 8435568 9294133 + AL591485.1 bidirectional_promoter_lncRNA 100506207 0 0 2 6 2 0 2 1 2 ENSG00000285220 chr17 10729777 10880895 + AC015908.7 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285228 chr13 24611966 24613983 + AL359538.2 unitary_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285230 chr20 33980687 33994357 - RALY-AS1 lincRNA 101926888 35 29 24 20 34 11 18 28 18 ENSG00000285231 chr11 59878809 59896481 + OOSP3 protein_coding 112577461 GO:0005576, extracellular region, 1 6 2 1 10 5 8 3 3 ENSG00000285237 chr8 10474789 10475045 - AC104964.4 unprocessed_pseudogene 0 1 0 0 0 0 0 0 0 ENSG00000285238 chr12 6556886 6607367 - AC006064.6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285239 chr1 207709024 207711508 - AL137789.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285244 chr6 36677609 36678559 - DINOL bidirectional_promoter_lncRNA 108783646 0 0 0 3 1 0 5 1 4 ENSG00000285245 chr9 133098121 133163914 - AL162417.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285253 chr15 56652488 56918571 - AC090517.4 protein_coding 54816 GO:0000785, chromatin, GO:0046872, GO:0000981, GO:0000978, metal ion binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, GO:0006355, regulation of transcription by RNA polymerase II, regulation of transcription, DNA-templated, 0 0 0 0 0 0 0 0 0 ENSG00000285254 chr10 22475455 22478026 - AL513128.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285257 chr10 87214136 87216173 - AL157893.1 unprocessed_pseudogene 1 2 0 0 0 3 5 0 4 ENSG00000285258 chr3 63864557 64003462 + ATXN7 protein_coding 0 0 2 0 0 0 0 1 2 ENSG00000285268 chr1 781937 782050 + AL669831.7 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285269 chr9 96235331 96352058 - AL160269.1 protein_coding Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]. 11046 GO:0016021, GO:0005794, GO:0005794, GO:0000139, integral component of membrane, Golgi apparatus, Golgi apparatus, Golgi membrane, GO:0015297, GO:0005463, GO:0005462, GO:0005461, GO:0005338, GO:0005338, antiporter activity, UDP-N-acetylgalactosamine transmembrane transporter activity, UDP-N-acetylglucosamine transmembrane transporter activity, UDP-glucuronic acid transmembrane transporter activity, nucleotide-sugar transmembrane transporter activity, nucleotide-sugar transmembrane transporter activity, GO:1990569, GO:0018146, GO:0015789, GO:0015787, GO:0008643, GO:0008150, GO:0006024, UDP-N-acetylglucosamine transmembrane transport, keratan sulfate biosynthetic process, UDP-N-acetylgalactosamine transmembrane transport, UDP-glucuronic acid transmembrane transport, carbohydrate transport, biological_process, glycosaminoglycan biosynthetic process, 0 0 2 0 0 0 0 0 1 ENSG00000285278 chr6 10404502 10407928 + TFAP2A-AS2 antisense The product of this intronless gene is a capped lncRNA that is nuclear-enriched and associated with chromatin. The encoded transcript may be involved in the regulation of developmental gene expression in a context-dependent manner, functioning as a repressor in non-pluripotent cells and an activator in pluripotent cells. Transcription of this gene is activated in 8-cell human embryos during the major wave of zygotic genome activation, independently of and prior to the activation of TFAP2A, an overlapping gene found on the opposite strand. Expression of this gene is characterized by high cell-to-cell variability in the cells of totipotent human embryos and in stable cell lines. [provided by RefSeq, Mar 2017]. 109729173 0 0 0 0 0 0 0 0 0 ENSG00000285280 chr1 192167786 192957713 - AL390957.1 lincRNA 482 601 597 81 233 146 105 201 101 ENSG00000285283 chr11 31812391 32104665 + AL035078.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285287 chr9 131370933 131372514 + AL354855.1 unprocessed_pseudogene 0 2 0 0 0 0 0 0 2 ENSG00000285292 chr7 151207837 151227166 - AC021097.2 protein_coding This gene represents readthrough transcription between ABCF2 and a downstream histone H2B-like gene. [provided by RefSeq, Mar 2019]. 114483834 0 0 0 0 0 0 0 0 0 ENSG00000285294 chr10 46398362 46453306 + LINC00842 lincRNA 643650 0 0 0 0 0 0 0 0 0 ENSG00000285300 chr10 70927055 71077810 + AC073176.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285303 chr16 20720994 20722281 - AC004381.3 transcribed_unprocessed_pseudogene 0 4 5 0 0 0 0 0 0 ENSG00000285304 chr22 37639693 37666932 + Z83844.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285314 chr22 20979462 20998121 + AC002470.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285323 chr13 52169987 52171248 - AL158066.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285325 chr1 84785427 84786714 + AC104169.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285329 chr16 3365099 3479550 + AC025283.3 protein_coding 10 15 15 7 3 5 8 4 5 ENSG00000285330 chr4 109713916 109801999 - AC126283.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285331 chr15 56795460 56918499 - AC090517.5 processed_transcript 145783 2 0 0 0 0 0 1 4 6 ENSG00000285336 chr3 180707589 180871005 - AC108734.4 lincRNA 101928882 0 0 0 0 0 0 0 0 0 ENSG00000285338 chr11 6610883 6616594 - AC091564.7 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285347 chr20 38260175 38293892 + AL359555.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285354 chr2 16294445 16302290 - AC010745.5 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000285361 chr1 84477039 84479157 + AL844170.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285366 chr5 142946569 142947105 - AC008533.1 TEC 26 22 17 24 20 25 26 15 17 ENSG00000285367 chr16 51150770 51442519 + AC087564.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285370 chr9 113087317 113087738 - AL449105.5 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285373 chr2 160257718 160271880 - LINC02478 lincRNA 100505984 2 0 0 0 1 0 0 0 0 ENSG00000285374 chr1 84607099 84610697 + AL359762.2 lincRNA 0 0 0 0 0 0 0 0 4 ENSG00000285382 chr20 32632183 32743567 - FO393400.1 protein_coding 149951 GO:0031410, cytoplasmic vesicle, GO:0051059, GO:0051059, GO:0005515, NF-kappaB binding, NF-kappaB binding, protein binding, GO:0045892, GO:0045892, GO:0033209, GO:0033209, GO:0032088, GO:0032088, negative regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated, tumor necrosis factor-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, negative regulation of NF-kappaB transcription factor activity, negative regulation of NF-kappaB transcription factor activity, 0 0 2 0 0 0 0 0 0 ENSG00000285385 chr4 88523810 88649847 + AC098582.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285388 chr11 62936427 62959852 - AP000438.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285396 chr15 40695129 40732158 + AC012476.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285398 chr7 83372652 83373096 - AC079799.2 TEC 0 0 0 0 0 0 0 0 0 ENSG00000285399 chr3 63863155 63905838 + AC104162.2 bidirectional_promoter_lncRNA 35 51 78 36 38 81 47 43 62 ENSG00000285401 chr6 75744275 75744840 + AL109897.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285402 chr10 46375752 46537864 + AC244230.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285404 chr22 31754899 31956243 + Z82190.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285405 chr15 21980277 21981245 - OR11J6P unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285407 chr1 68679202 68943452 + AL033530.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285409 chr1 79967733 80051404 - AC099671.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285410 chr15 50348936 50354861 - GABPB1-IT1 sense_intronic 55056 217 229 325 105 124 186 121 92 158 ENSG00000285412 chr7 29122274 29128172 + AC005232.1 antisense 101928168 0 0 0 0 0 0 0 0 0 ENSG00000285413 chr21 44172169 44194338 - AP001056.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285416 chr3 48997221 48999442 - AC137630.5 unitary_pseudogene 1 0 2 2 0 2 0 0 0 ENSG00000285417 chr1 206035253 206062257 + BX571818.1 transcribed_unitary_pseudogene 3 2 0 0 0 4 5 0 0 ENSG00000285420 chr5 151173981 151180617 + AC011342.1 unitary_pseudogene 80 64 62 64 80 91 106 93 87 ENSG00000285424 chr6 4304942 4583871 - AL162718.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285427 chr6 159760258 159762332 - SOD2-OT1 lincRNA 100129518 1 0 1 1 0 1 0 0 1 ENSG00000285437 chr7 102562133 102572583 - POLR2J3 protein_coding This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]. 548644 GO:0005665, RNA polymerase II, core complex, GO:0046983, GO:0005515, GO:0003899, GO:0003677, GO:0001055, protein dimerization activity, protein binding, DNA-directed 5'-3' RNA polymerase activity, DNA binding, RNA polymerase II activity, GO:0006366, transcription by RNA polymerase II, 16 34 43 16 45 31 20 27 15 ENSG00000285441 chr6 159679119 159762529 - SOD2 protein_coding 141 140 228 80 115 87 107 89 107 ENSG00000285444 chr13 51763951 51845159 - AL162377.3 protein_coding 459 403 382 500 523 545 441 312 351 ENSG00000285445 chrX 92770855 92772091 + AL121871.2 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285446 chr6 116399395 116463696 + Z84488.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285447 chr9 112997120 113050043 - ZNF883 protein_coding 169834 GO:0000785, chromatin, GO:0046872, GO:0005515, GO:0000981, GO:0000978, metal ion binding, protein binding, DNA-binding transcription factor activity, RNA polymerase II-specific, RNA polymerase II cis-regulatory region sequence-specific DNA binding, GO:0006357, regulation of transcription by RNA polymerase II, 0 0 0 0 0 0 0 0 0 ENSG00000285448 chr13 99429211 99432702 - AL136961.1 lincRNA 25 10 21 12 10 10 26 11 16 ENSG00000285454 chr4 42151028 42268110 + AC111006.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285458 chr4 86886472 86936178 - AC093827.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285462 chr1 79325008 79346445 + AL353651.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285467 chr14 23969931 24051377 + AL136419.1 processed_transcript 728635 GO:0016491, oxidoreductase activity, GO:0055114, oxidation-reduction process, 0 0 0 0 0 0 0 0 0 ENSG00000285470 chrY 5887504 5888740 + AC010977.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285471 chr17 5772926 6080792 + AC007846.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285472 chr15 22015233 22095857 + AC134980.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285473 chr1 68974010 69023558 + AL691520.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285476 chr5 176063748 176126959 + AC139491.7 protein_coding 5 2 4 30 0 14 25 1 15 ENSG00000285480 chr7 151207837 151210378 - AC021097.3 protein_coding 114483833 GO:0005634, GO:0000786, nucleus, nucleosome, GO:0046982, GO:0003677, protein heterodimerization activity, DNA binding, GO:0006334, nucleosome assembly, 1 0 0 0 0 0 0 0 0 ENSG00000285483 chr9 103999755 104000469 + AL590381.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285486 chr17 44276368 44281182 - AC003043.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285491 chr15 21609102 21610043 + AC135068.11 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285492 chr6 159051674 159121495 - AL356417.3 lincRNA 112267968 11 21 17 21 10 14 27 32 12 ENSG00000285498 chr11 5224309 5225461 - AC104389.6 TEC 0 0 0 0 0 0 0 0 0 ENSG00000285505 chr19 41956879 41994232 - AC010616.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285508 chr20 10413520 10431922 - AL034430.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285509 chr11 121024125 121113108 + AP000646.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285513 chr11 116820645 116821541 + AP006216.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285517 chr12 30795458 30879268 + LINC00941 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285518 chr14 71734927 71739794 - AC004900.1 antisense 169 111 144 131 109 101 150 109 97 ENSG00000285519 chr2 54768492 54801540 - AC104781.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285520 chr10 12877459 12965275 + AL353586.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285521 chr1 205775559 205783623 + AC119673.1 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285522 chr5 770005 770113 - AC026740.2 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285523 chr12 5088002 5092742 + AC005906.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285524 chr7 153395484 153396921 + AC073236.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285525 chr1 100628230 100641723 + AC099670.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285526 chr19 35106510 35124297 + AC020907.6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285527 chr16 87129857 87133107 + AC136285.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285528 chr12 56449700 56488170 - AC097104.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285529 chr10 130525712 130537406 + AC016816.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285530 chr1 100220488 100253414 + AL445928.2 antisense 1 6 2 7 4 0 0 2 1 ENSG00000285531 chr22 41676745 41677125 - Z83840.1 processed_pseudogene 12 16 20 55 43 69 49 27 30 ENSG00000285532 chr1 90841587 90849472 + AC091614.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285533 chr11 65663086 65671716 + AP001362.2 lincRNA 105369347 43 31 61 47 44 42 27 39 49 ENSG00000285534 chr13 109478739 109731700 - AL163541.1 lincRNA 27 1 0 10 0 1 13 1 0 ENSG00000285535 chr17 77590532 77680687 + AC021683.5 lincRNA 4 0 0 5 3 0 8 2 7 ENSG00000285536 chr7 48708327 48711582 + AC091770.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285537 chr11 67735608 67736559 - AP003385.5 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285538 chr16 77752372 77756681 + AC092134.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285539 chr3 42692663 42732922 - AC006059.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285540 chr10 114109856 114118700 - AC022023.1 lincRNA 0 0 0 0 0 2 0 0 0 ENSG00000285541 chr17 11197883 11242062 - AC005548.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285542 chr2 44168851 44320310 + AC013717.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285543 chr16 10214784 10227581 - AC022168.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285544 chr7 64045429 64114556 + AC115220.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285545 chr11 17349053 17351703 - AC124798.2 antisense 0 1 3 4 2 7 0 7 6 ENSG00000285546 chr3 181822872 181822990 - AC007547.3 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285547 chrX 72301691 72572843 - AL133500.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285548 chr2 50324643 50345598 + AC068725.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285549 chr5 165129307 165153014 - AC091973.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285550 chr18 44214971 44342315 + AC110014.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285551 chr10 62520448 62672011 + AC067752.1 protein_coding This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]. 22891 GO:0043231, GO:0034451, GO:0005813, GO:0005737, intracellular membrane-bounded organelle, centriolar satellite, centrosome, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0140059, GO:0110026, GO:0060997, GO:0048714, GO:0021687, GO:0010977, GO:0010569, GO:0000723, dendrite arborization, regulation of DNA strand resection involved in replication fork processing, dendritic spine morphogenesis, positive regulation of oligodendrocyte differentiation, cerebellar molecular layer morphogenesis, negative regulation of neuron projection development, regulation of double-strand break repair via homologous recombination, telomere maintenance, 0 0 0 0 0 0 0 0 0 ENSG00000285552 chr5 40463562 40504563 + AC114977.1 lincRNA 0 0 0 18 19 2 0 16 13 ENSG00000285553 chr6 163115691 163137775 - AL137182.1 lincRNA 0 0 0 0 0 0 0 3 0 ENSG00000285554 chr1 150173049 150181429 + AC242988.2 lincRNA 74 116 117 52 142 61 87 111 84 ENSG00000285555 chr12 2332861 2335702 - AC005293.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285556 chr9 85167346 85194283 + AL354897.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285557 chr3 148368384 148591927 - AC069410.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285558 chr3 141738474 141807919 + AC112504.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285559 chr17 34937306 34938604 + AC022903.2 antisense 0 0 1 0 0 0 0 0 6 ENSG00000285560 chr15 90630535 90631755 - AC103739.3 antisense 0 1 0 4 0 0 0 4 0 ENSG00000285561 chr11 124406997 124414792 - AP001804.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285562 chr11 18142341 18145142 + AC090099.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285563 chr4 164920894 164931047 + AC106872.13 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285564 chr6 163338394 163346744 - DKFZp451B082 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285565 chr6 31828834 31839719 + AL671762.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285566 chr13 63832361 63833531 - AL445238.1 protein_coding 647264 0 0 0 0 0 0 0 0 0 ENSG00000285567 chr16 5107672 5235822 + AC074051.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285568 chr11 81015849 81040236 + AP003398.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285569 chr2 11407297 11423809 + AC099344.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285570 chr1 156689676 156704757 + AL590666.4 antisense 1 1 0 4 9 5 6 1 4 ENSG00000285571 chr6 26677003 26683211 + AL513548.4 lincRNA 0 0 0 3 0 0 0 1 1 ENSG00000285572 chr13 76552807 76846524 - AL136441.1 lincRNA 6 10 13 1 4 3 8 4 0 ENSG00000285573 chr7 36064715 36066679 + AC083864.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285574 chr4 177457111 177457228 - AC078881.2 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285575 chr18 5197165 5215497 + AP001496.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285576 chr13 46458061 46459324 - AL138686.2 transcribed_unprocessed_pseudogene 112268117 0 0 0 0 0 0 0 0 0 ENSG00000285577 chr2 33274465 33281261 - AC019127.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285578 chr6 184339 186899 + AL035696.4 lincRNA 0 0 1 0 1 0 0 0 0 ENSG00000285579 chr8 70669369 71228629 + AC015687.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285580 chr9 64343044 64362584 + CR769776.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285581 chr11 1464582 1467632 - AC091196.1 lincRNA 0 0 0 3 0 4 2 1 3 ENSG00000285582 chr10 115123482 115218819 - AC016042.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285583 chr19 12670079 12671023 - AC010422.7 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285584 chr14 97180525 97217778 + AL158800.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285585 chr3 119703076 119807570 + AC069444.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285586 chr6 79868402 79870483 + AL132875.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285587 chr10 116274270 116281071 + AC012470.1 bidirectional_promoter_lncRNA 107984273 0 0 0 0 0 0 0 0 0 ENSG00000285588 chr13 67121081 67156624 + AL160254.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285589 chr19 12668071 12681834 - AC010422.8 protein_coding 20 20 27 31 22 50 29 24 25 ENSG00000285590 chr5 163597352 163612516 - AC010291.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285591 chr2 8488420 8505027 + AC092617.1 lincRNA 1 1 1 3 5 2 11 3 8 ENSG00000285592 chr7 20959391 21028813 - AC080068.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285593 chr17 6373833 6375080 - AC055872.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285594 chr18 9646110 9648502 + AP000902.2 lincRNA 112268216 0 0 3 0 0 4 1 0 0 ENSG00000285595 chr18 25196663 25218241 + AC105114.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285596 chr7 44011882 44038978 - AC017116.2 processed_transcript 17 7 15 5 15 2 8 10 5 ENSG00000285597 chr15 45279423 45280474 + AC051619.10 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285598 chr6 145296545 145311092 + AL023283.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285599 chr8 143838779 143840256 + AC234917.2 antisense 5 5 14 4 11 16 3 6 28 ENSG00000285600 chr3 127620106 127629049 - AC023593.1 antisense 1 7 12 30 15 41 28 12 1 ENSG00000285601 chr8 29351292 29360222 + AC084262.2 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285602 chrX 15561047 15675608 - AC097625.1 protein_coding 3 5 3 7 1 6 5 1 1 ENSG00000285603 chr6 2227803 2230261 + AL035693.1 antisense 0 0 0 0 0 0 1 1 0 ENSG00000285604 chr1 12088441 12092264 - AL357835.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285605 chr5 144439204 144468471 - AC109441.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285606 chr8 10275499 10279737 - AC079200.1 antisense 0 0 4 2 0 1 2 1 6 ENSG00000285607 chr8 7761330 7764340 + AC084121.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285608 chr14 32149176 32158008 - AL161665.1 antisense 43 25 45 42 28 80 75 31 62 ENSG00000285609 chr1 182944365 182944490 - AL450304.2 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285610 chr6 162969050 162975007 - AL590286.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285611 chr2 60057601 60071108 + AC007132.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285612 chr14 71586269 71590354 - AC004974.1 antisense 811 650 895 213 308 337 293 272 280 ENSG00000285613 chr16 23167577 23186395 - AC099482.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285614 chr3 97973012 97975056 + AC026100.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285615 chr10 129372194 129380753 - AL359508.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285616 chr5 40474908 40490430 - AC114977.2 lincRNA 0 0 0 1 3 0 1 0 0 ENSG00000285618 chr5 91132303 91142470 - AC074132.1 antisense 26 33 16 44 70 23 89 59 25 ENSG00000285619 chr3 128181402 128194452 - AL449214.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285620 chr8 7730739 7733749 + AC084121.6 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285621 chr13 33335497 33349619 + AL138999.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285622 chr1 168695874 169103276 - AL135926.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285623 chr22 49166421 49188062 - Z82202.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285624 chr8 18387268 18388319 + AC025062.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285625 chr12 56714612 56741535 - AC117378.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285626 chr2 11561661 11561779 - AC011994.1 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285627 chr12 1741197 1747099 - AC005343.1 antisense 2 7 3 13 17 17 19 7 6 ENSG00000285628 chr16 18318008 18344283 - AC126755.7 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285629 chr1 6159430 6197757 - AL031847.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285630 chr10 30587706 30591092 + AL590068.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285631 chr3 130821184 130823914 + AC097105.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285632 chr8 38223957 38231695 - AC084024.4 bidirectional_promoter_lncRNA 3 5 2 7 10 21 5 12 11 ENSG00000285633 chr14 25916015 25998805 + AL132633.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285634 chr9 85370219 85443963 - AL583827.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285635 chr3 98521133 98585498 - AC021660.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285636 chr1 162146709 162174860 - AL450163.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285637 chr9 12958503 13034326 - AL161449.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285638 chr1 190878145 191151410 - AL138927.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285639 chr6 14152196 14211186 - AL133259.1 lincRNA 4 9 4 0 6 3 0 1 9 ENSG00000285640 chr11 134685044 134702004 - AP001999.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285641 chr1 153975850 153986246 - AL358472.6 protein_coding 0 0 0 0 0 0 0 0 4 ENSG00000285642 chr6 158000109 158000749 - AL139330.1 lincRNA 0 0 0 0 1 0 0 0 0 ENSG00000285643 chr13 106955689 106961392 - AL354741.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285644 chr11 3057538 3064707 + AC108448.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285645 chr9 35812960 35828732 - AL133410.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285646 chr1 11908147 11913232 + AL021155.2 lincRNA 1 5 1 10 5 14 7 7 9 ENSG00000285647 chr6 31367057 31376088 + AL671883.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285648 chr17 73926421 73949906 - AC137735.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285649 chr1 43968351 43974821 - AL357079.2 antisense 0 0 4 5 5 16 3 3 2 ENSG00000285650 chr9 92600094 92612368 - AL157827.2 antisense 2 1 1 3 6 1 13 2 7 ENSG00000285651 chr1 151885251 151899333 + AL450992.3 antisense 0 0 0 1 0 0 0 0 0 ENSG00000285652 chr6 122975198 122996061 - AL591428.1 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285653 chr18 9840340 9841559 - AC006238.2 antisense 11 9 29 19 28 40 39 20 23 ENSG00000285654 chr3 16252123 16253130 - AC090953.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285655 chr8 66430185 66445324 + AC009879.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285656 chr11 62116470 62123767 - AP002793.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285657 chr8 7753682 7756692 + AC084121.7 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285658 chr11 46572948 46587808 + AC127035.1 antisense 0 0 1 0 1 0 0 1 1 ENSG00000285659 chr8 7525143 7527297 + AC134684.7 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285660 chr3 148090341 148096921 + AC092958.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285661 chr15 91094847 91099838 - AC127520.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285662 chr10 46740571 46751733 + AL731733.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285663 chr15 93177269 93179999 - AC108457.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285664 chr14 52791785 52930019 + AL139317.5 antisense 0 0 0 0 0 3 0 0 0 ENSG00000285665 chr1 171339299 171339959 + AL031274.1 processed_pseudogene 8 4 9 10 4 4 5 15 10 ENSG00000285666 chr7 76818377 76903041 - AC006972.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285667 chr15 84717474 84746837 - AC012291.2 lincRNA 28 34 26 22 21 29 27 20 19 ENSG00000285668 chr17 45586452 45588379 - AC126544.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285669 chr8 30192429 30201332 + AC026979.4 lincRNA 9 11 16 2 13 1 3 10 1 ENSG00000285670 chr7 56214979 56220747 + AC006970.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285671 chr10 14372001 14377586 + AL139405.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000285672 chr13 114275326 114277323 - AL160396.2 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000285673 chr2 59014354 59277688 + AC007092.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285674 chr19 7886977 7887096 - AC010336.7 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285675 chr8 10118005 10147423 - AC023385.1 antisense 0 0 0 0 2 1 0 0 0 ENSG00000285676 chr10 112810031 112821838 - AL158212.5 antisense 19 22 20 0 12 27 19 17 10 ENSG00000285677 chr1 156001953 156032907 + AL355388.3 antisense 226 205 272 148 164 138 152 120 163 ENSG00000285679 chrX 8045186 8231386 + AC097626.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285680 chr13 83877891 83892570 + AL355481.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285681 chr18 60329233 60538595 + AC091576.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285683 chr8 136237386 136241532 - AC023781.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285684 chr13 80115733 80134368 - AL137781.1 lincRNA 0 0 1 0 0 0 0 0 0 ENSG00000285685 chr3 52046763 52048657 + AC115284.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285686 chr9 86669349 86708307 - AL353613.2 lincRNA 105376124 0 0 0 0 0 0 0 0 0 ENSG00000285687 chr8 7571995 7575006 - AC134684.8 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285688 chr9 7177577 7203458 + AL161443.1 lincRNA 1 1 0 0 1 0 1 3 0 ENSG00000285689 chr5 7272792 7276923 + AC091951.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285690 chr22 25282943 25300791 + AL022332.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285691 chr6 123519697 123557670 + AL445259.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285692 chr12 53531752 53621218 + AC023509.6 antisense 7 18 14 2 11 13 7 12 9 ENSG00000285693 chr11 72793624 72814054 - AP002381.2 lincRNA 227 170 279 102 109 121 103 97 101 ENSG00000285694 chr6 4449392 4468181 + AL162718.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285695 chr18 52283909 52309224 + AC016383.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285696 chr11 108142458 108150381 - AP002433.2 antisense 3 5 14 6 12 14 5 4 2 ENSG00000285697 chr22 29387909 29417757 + AC002059.2 transcribed_unprocessed_pseudogene 0 0 0 4 0 7 4 3 4 ENSG00000285698 chr1 115270767 115283763 - AL049825.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285699 chr13 87423493 87458407 + AL360267.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285700 chr15 95287934 95291643 + AC104260.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285701 chr1 9900614 9908034 + AL357140.5 antisense 2 0 0 0 2 0 2 3 0 ENSG00000285702 chr7 73039696 73069506 + AC211476.5 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285703 chr6 27491422 27519435 - AL021918.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285704 chr12 865288 867139 - AC004765.1 antisense 29 33 29 21 53 38 20 32 22 ENSG00000285705 chr11 35824192 35838523 + AC090692.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285706 chr9 98798466 98807564 - AL807776.1 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285707 chr22 48254903 48259116 - AL008720.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285708 chr3 70959226 71754229 - AC097634.4 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285709 chrX 39908309 39914419 + AL592164.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285710 chr16 70349085 70372166 - AC012184.4 antisense 13 11 25 63 37 36 53 23 49 ENSG00000285711 chr4 65225867 65241814 - AC018683.1 lincRNA 105377256 0 0 0 0 0 0 0 0 0 ENSG00000285712 chr10 43325833 43350792 - AC068707.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285713 chr4 144210701 145098174 - AC098588.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285714 chr13 77417821 77422847 + AL159158.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285715 chr10 122017982 122019160 - AC063960.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285716 chr7 25254965 25257129 - AC004129.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285717 chr6 6450356 6507443 + AL162719.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285718 chr1 194785517 194931310 - AL353072.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285719 chr1 207909992 207917088 + AL356275.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285720 chr8 7746034 7749044 + AC084121.8 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285721 chr1 22025511 22101360 + AL031281.2 protein_coding 70 75 65 117 169 179 136 58 98 ENSG00000285722 chr22 49372924 49377119 + AC207130.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285723 chr20 10420546 10420737 - AL034430.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285724 chr12 17083531 17167790 - AC092110.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000285725 chr7 97966377 97970404 - AC004967.2 processed_transcript 2 2 3 6 0 1 1 1 6 ENSG00000285726 chr6 163348019 163353220 - AL031121.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285727 chr14 23875938 23882428 - AL136419.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285728 chr1 42658687 42682160 - AC098484.4 antisense 6 9 6 8 11 12 8 5 11 ENSG00000285729 chr15 72858354 72887128 + AC103874.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285730 chr6 166995735 166999511 - Z94721.3 bidirectional_promoter_lncRNA 88 68 119 46 65 84 66 64 154 ENSG00000285731 chr3 17141015 17205165 + AC090644.1 lincRNA 0 2 1 3 0 0 0 2 0 ENSG00000285732 chr12 39611819 39614648 + AC121334.3 antisense 0 1 1 0 0 0 0 0 0 ENSG00000285733 chr6 169419969 169702047 - AL031315.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285734 chr12 2440189 2457392 - AC005414.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285735 chr11 134994982 135007779 - AP003062.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285736 chr5 149324220 149345333 - AC131025.3 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285737 chr10 27564430 27594588 + AL138920.1 lincRNA 25 49 41 26 75 73 49 45 45 ENSG00000285738 chr3 66794041 66796921 + AC098969.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285739 chr10 82207620 82210345 - AC010157.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285740 chr11 35894987 35897735 + AC090692.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285741 chr7 51471717 51729716 + AC005999.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285742 chr13 84063106 84069408 + AL445604.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285743 chr10 6682513 6823789 + AL158210.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285744 chr8 78805293 78956082 + AC083837.2 bidirectional_promoter_lncRNA 0 0 0 0 0 4 0 0 0 ENSG00000285745 chr4 185756929 185757048 - AC104805.1 processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285746 chr13 77661376 77662626 - AL450447.1 unprocessed_pseudogene 100129307 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0048306, GO:0005509, calcium-dependent protein binding, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000285747 chr14 50831962 50838100 + AL133485.2 lincRNA 3 1 1 8 3 0 2 1 5 ENSG00000285748 chr18 69240448 69250781 - AC090337.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285749 chr3 51798803 51830856 + AC097636.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285750 chr10 24816331 24822950 + AL157385.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285751 chr11 39024631 39161638 - AC021723.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285752 chr1 22028317 22052927 - AL031281.3 lincRNA 44 47 52 51 48 29 29 36 34 ENSG00000285753 chr1 152656332 152656501 + AL139247.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285754 chr2 34134371 34220575 - AC008170.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285755 chr2 57289648 57380132 - AC132153.1 lincRNA 0 0 0 0 0 0 0 0 1 ENSG00000285756 chrX 3817528 3937855 - BX890604.2 lincRNA 8 1 13 28 8 29 27 12 15 ENSG00000285757 chr17 45327366 45327497 - AC003070.7 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285758 chr8 79891595 79930832 + AC036214.4 antisense 0 1 0 1 0 0 0 0 2 ENSG00000285759 chr6 10426623 10429110 + AL138885.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285760 chr17 3311218 3311934 + AC087498.2 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285761 chr6 29752573 29763295 + AL645939.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285762 chr22 23971378 23980469 - AC253536.7 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285763 chr6 10659498 10692860 + AL358777.1 antisense 0 1 4 2 1 0 0 0 5 ENSG00000285764 chr13 63738111 63751083 + AL445989.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285765 chr8 7579644 7582653 - AC134684.9 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285766 chr3 43088236 43090443 + AC092042.4 lincRNA 0 0 0 1 0 6 2 2 2 ENSG00000285768 chr8 85851446 85861562 - AC232323.2 lincRNA 105375622 0 0 0 0 0 0 0 0 0 ENSG00000285769 chr11 112637342 112751131 + AP003100.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285770 chr12 7146482 7147817 - AC018653.4 antisense 2 0 0 5 5 2 3 1 5 ENSG00000285771 chr6 7258910 7261993 - AL139095.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285772 chr7 92112159 92179511 - AC000120.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285773 chr13 30388785 30404967 - AL161893.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285774 chr14 54684753 54687912 - AL133444.1 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000285775 chr16 55045700 55049318 - AC109136.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285776 chrX 69672479 69672597 + AL158069.2 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285777 chr1 173596060 173669837 - AL139142.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285778 chr1 73787370 73915315 - AL591463.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285779 chr1 153959151 153975887 - AL358472.7 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285780 chr3 89283016 89314603 - AC109129.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285781 chr10 31362799 31364049 - AL117340.1 unprocessed_pseudogene 6 7 5 5 9 6 9 9 15 ENSG00000285782 chr1 83397568 83425353 - AC116099.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285783 chr4 144111039 144870953 - AC098588.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285784 chr9 11618530 12058227 + AL353595.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285785 chr17 57196081 57213300 - AC003950.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285786 chr10 48246525 48248512 + AC074325.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285788 chr3 45842265 45866571 + AC099782.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285789 chr13 103343660 103396450 + AL162717.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285790 chr18 45491581 45503824 - AC021517.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285791 chr8 66432486 66518524 + AC009879.3 protein_coding 0 2 0 0 0 0 2 0 0 ENSG00000285792 chr16 84040790 84045333 + AC040169.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285793 chr2 87030675 87076429 - AC125232.2 processed_transcript 285074 39 36 41 34 38 23 30 38 19 ENSG00000285794 chr1 22030527 22030748 + AL031281.4 transcribed_processed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285796 chr20 45926518 45935055 - AL162458.1 antisense 77 110 127 51 80 101 60 71 72 ENSG00000285797 chr6 156350579 156390246 + AL512658.2 lincRNA 0 1 0 0 0 1 0 0 0 ENSG00000285798 chr3 148028046 148079637 - AC092958.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285799 chr6 29849550 29885615 - AL645929.2 transcribed_unprocessed_pseudogene 0 6 0 0 9 0 0 9 0 ENSG00000285800 chr16 52583694 52588879 + AC026462.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285801 chr6 25061796 25134971 + AL133268.4 antisense 0 0 0 0 0 0 3 1 0 ENSG00000285802 chr1 23576436 23593621 - AL450043.1 lincRNA 0 0 0 0 0 0 1 0 0 ENSG00000285803 chr10 49981420 49988899 - AL442003.1 antisense 8 9 11 11 10 8 19 4 10 ENSG00000285804 chr5 72095855 72108000 - AC093218.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285805 chr15 55588666 55589811 + AC012378.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285806 chr13 24723101 24738690 - AL391560.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285807 chr9 94964369 94965624 - AL353768.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285808 chr1 72793104 72854475 + AL583808.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285809 chr5 117313085 117330149 + AC093295.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285810 chr10 75041876 75055754 + AC018511.5 antisense 0 0 0 0 1 0 0 0 0 ENSG00000285811 chr13 88472151 88477267 - AL355677.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285812 chr1 1097585 1104598 + AL390719.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285813 chr11 105995185 105999213 + AP000813.1 antisense 0 0 2 13 0 6 2 3 0 ENSG00000285814 chr8 7715443 7718453 + AC084121.9 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285815 chr21 39380332 39515506 + WRB-SH3BGR protein_coding This locus represents naturally occurring readthrough transcription between the neighboring WRB (tryptophan rich basic protein) and SH3BGR (SH3 domain binding glutamate-rich protein) genes on chromosome 21. Readthrough transcripts may encode fusion proteins that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017]. 106865373 0 0 0 0 0 0 0 0 0 ENSG00000285816 chr11 65261928 65326543 + AP000944.2 protein_coding 70 65 116 39 81 43 70 55 35 ENSG00000285817 chr8 137524755 137645564 - AC105213.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285818 chr1 152079557 152080903 - AL591893.1 unprocessed_pseudogene 100131107 GO:0005737, GO:0005615, cytoplasm, extracellular space, GO:0048306, GO:0005509, calcium-dependent protein binding, calcium ion binding, 0 0 0 0 0 0 0 0 0 ENSG00000285819 chr2 131191641 131209211 - AC131180.1 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285820 chr9 116838144 116877264 + AL157829.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285821 chr7 157987169 157989456 + AC011899.4 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285822 chr17 27089545 27170310 + AC129926.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285823 chr1 25041136 25047404 + AL050344.2 lincRNA 105376879 9 0 0 1 1 0 1 0 0 ENSG00000285824 chr10 30309803 30312026 + AL353796.2 antisense 2 1 2 0 2 0 2 1 0 ENSG00000285825 chr11 124950331 124953555 - AP003501.3 lincRNA 0 0 0 0 0 0 0 2 0 ENSG00000285826 chr14 83986776 84140544 - AL356807.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285827 chr11 118401602 118482737 + AP001267.5 protein_coding 0 0 0 0 0 4 0 0 0 ENSG00000285829 chr17 50781306 50792493 + AC005921.4 lincRNA 0 0 0 1 0 0 0 0 0 ENSG00000285830 chr14 39147833 39151363 + AL109628.2 antisense 170 176 212 185 141 139 159 95 124 ENSG00000285831 chr5 53297872 53326565 - AC027329.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285833 chr1 11500803 11502016 - AL590989.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285834 chr13 85693937 85783203 - AL356413.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285835 chr11 87847259 88045608 - AP000676.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285836 chr3 113998782 114016261 + AC092896.2 antisense 2 3 0 1 3 1 12 5 2 ENSG00000285837 chr10 62374192 62672011 + AC024598.1 processed_transcript This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]. 22891 GO:0043231, GO:0034451, GO:0005813, GO:0005737, intracellular membrane-bounded organelle, centriolar satellite, centrosome, cytoplasm, GO:0046872, GO:0005515, metal ion binding, protein binding, GO:0140059, GO:0110026, GO:0060997, GO:0048714, GO:0021687, GO:0010977, GO:0010569, GO:0000723, dendrite arborization, regulation of DNA strand resection involved in replication fork processing, dendritic spine morphogenesis, positive regulation of oligodendrocyte differentiation, cerebellar molecular layer morphogenesis, negative regulation of neuron projection development, regulation of double-strand break repair via homologous recombination, telomere maintenance, 0 0 0 0 0 0 0 0 0 ENSG00000285838 chr6 68040290 68083574 + AL646090.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285839 chr1 52020153 52033350 - AL445685.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285840 chr13 30466117 30482294 + AL353648.1 antisense 0 0 0 2 0 0 0 0 0 ENSG00000285841 chr7 141392155 141396517 - AC005692.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285842 chr11 95571040 95748715 + AP000820.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285843 chr2 227587237 227587515 - AC064853.2 polymorphic_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285844 chr6 72614386 72622073 - FO393414.3 bidirectional_promoter_lncRNA 0 0 0 2 0 0 0 0 0 ENSG00000285845 chr10 6779608 6877888 + AL392086.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285846 chr10 93063646 93077424 + AL358613.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285847 chr1 184635654 184664303 - AL713852.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285848 chr16 84817182 84856665 - AC025280.3 antisense 74 55 81 22 39 16 29 14 38 ENSG00000285849 chr6 27454568 27457575 + AL021918.4 antisense 1 2 9 4 3 7 7 3 4 ENSG00000285850 chr16 17453470 17456236 + AC009152.3 lincRNA 0 2 8 7 14 10 11 5 12 ENSG00000285851 chr1 84498350 84556688 - AL359762.3 processed_transcript 98 70 126 54 43 51 75 30 36 ENSG00000285852 chr10 19812372 19816278 - AL353147.1 bidirectional_promoter_lncRNA 14 15 23 10 8 23 16 9 11 ENSG00000285853 chr1 16515034 16521788 + AL137802.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285854 chr12 21536203 21657798 - AC010197.2 protein_coding 2 0 0 0 0 0 0 0 0 ENSG00000285855 chr22 48403462 48415571 + Z72006.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285856 chr13 111148196 111153171 - AL353704.1 antisense 0 0 0 0 0 0 2 0 0 ENSG00000285857 chr2 61527340 61529160 + AC016727.3 antisense 0 1 3 3 0 0 3 2 1 ENSG00000285858 chr6 163705937 163714306 - AL137005.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285859 chr10 24952350 25161236 + AL512598.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285860 chr7 26226413 26254709 - AC010677.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285861 chr8 3409133 3426587 + AC026991.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285862 chr8 7775741 7776365 - AC084121.10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285863 chr15 61861109 61894164 + AC009554.2 antisense 8 9 25 10 7 10 15 12 12 ENSG00000285864 chr11 72261731 72290688 + AP000593.4 lincRNA 1 2 1 3 1 19 0 3 0 ENSG00000285865 chr5 179974584 179980186 + AC010285.3 antisense 635 667 725 200 538 383 313 428 364 ENSG00000285866 chr15 94583506 94589259 - AC009432.2 lincRNA 105370985 0 0 0 0 0 0 0 0 0 ENSG00000285867 chr1 153586813 153606283 - BX470102.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285868 chr5 157341596 157460100 - AC008676.3 protein_coding 101 83 144 84 93 87 68 63 82 ENSG00000285869 chr16 19334011 19337804 + AC130456.8 lincRNA 105371113 0 0 0 0 0 0 0 0 0 ENSG00000285870 chr12 30696121 30700220 + AC012673.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285871 chr10 68896920 68900768 + AL359844.1 lincRNA 0 2 0 5 4 19 5 1 0 ENSG00000285872 chr2 10287800 10302485 - AC007240.2 bidirectional_promoter_lncRNA 3 9 7 12 12 11 20 24 9 ENSG00000285873 chr1 22142850 22157401 + AL445253.1 bidirectional_promoter_lncRNA 105376845 0 0 0 0 0 3 0 0 0 ENSG00000285875 chr6 140575788 140898381 - AL035446.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285876 chr2 13000953 13331683 + AC093912.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285877 chr17 67244282 67273503 + AC007448.4 antisense 0 0 0 0 0 6 0 0 0 ENSG00000285878 chr11 103252217 103293705 - AP002961.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285879 chr17 62035944 62040352 + AC018628.2 antisense 4 2 2 3 6 4 5 1 3 ENSG00000285880 chr8 37934340 37965953 - AC144573.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285881 chr8 22188369 22192578 - AC105206.3 antisense 0 0 0 0 0 0 1 0 0 ENSG00000285882 chr16 25787987 26042347 + AC093516.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000285883 chr15 91303756 91306321 + AC123784.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285884 chr10 42638314 42645542 + AL022345.4 bidirectional_promoter_lncRNA 2 2 4 7 0 15 6 4 11 ENSG00000285885 chr3 39494837 39502567 - AC092058.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285886 chr7 72954797 72957106 + AC211476.6 lincRNA 1 1 4 0 6 1 0 1 1 ENSG00000285887 chr6 169419004 169425156 - AL009176.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285888 chr6 36768485 36774651 + Z85996.2 lincRNA 0 3 1 3 0 6 2 0 0 ENSG00000285889 chr6 149797317 149826294 - AL355312.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285890 chr8 25820975 25833464 - AC009623.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285891 chr5 178694605 178697695 - AC113348.1 protein_coding 102724657 0 0 0 0 0 0 0 0 0 ENSG00000285892 chr7 78392626 78448999 - AC006043.1 sense_intronic 0 0 0 0 0 0 0 0 0 ENSG00000285894 chr1 188013642 188144763 + AL136372.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285895 chr11 58491773 58493480 - AP003557.2 lincRNA 0 0 0 0 3 3 0 0 0 ENSG00000285896 chrX 8897642 8927153 - AC074281.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285897 chr17 58345206 58417595 - AC004687.2 protein_coding 17 5 12 8 8 14 6 12 6 ENSG00000285898 chr2 40591285 40679604 + AC007317.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285899 chrX 43279560 43438657 + AL023574.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285900 chrX 31411033 31413701 + AC079177.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285901 chr12 4273762 4405490 + AC008012.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285902 chr13 79637433 79667344 + AL136442.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285904 chr7 140640909 140669476 + AC006452.1 lincRNA 0 1 1 0 0 0 2 2 0 ENSG00000285905 chr1 39779969 39781418 + AL033527.6 lincRNA 105378666 0 0 0 0 2 0 0 0 5 ENSG00000285906 chr3 11193439 11225877 - AC083855.2 antisense 0 1 1 0 0 1 2 0 0 ENSG00000285907 chr9 89563537 89604687 - AL161910.1 lincRNA 1 0 1 2 0 0 0 1 0 ENSG00000285908 chr3 133799440 133806139 - AC080128.2 antisense 6 0 6 5 4 0 0 6 7 ENSG00000285909 chr11 122751147 122851617 - AP002762.1 antisense 3 2 2 1 0 11 5 1 0 ENSG00000285910 chr1 178511563 178513051 - AL513013.1 bidirectional_promoter_lncRNA 0 0 0 0 0 0 0 0 0 ENSG00000285911 chr9 19386927 19408532 - AL391834.3 bidirectional_promoter_lncRNA 0 0 0 4 0 0 0 0 0 ENSG00000285912 chr7 152592973 152593091 - AC104843.3 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285913 chr8 7723091 7726101 + AC084121.11 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285914 chr5 171724575 171737519 - AC022440.1 lincRNA 0 3 0 0 0 0 0 0 0 ENSG00000285915 chr18 75112137 75125565 - AC015819.4 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285917 chr6 168999401 169000527 - AL109924.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285918 chr16 79208493 79211264 - AC092376.3 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285919 chr15 68880663 68928941 - AC087639.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285920 chr15 41284013 41380743 + AC087721.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285921 chr11 96092374 96137827 + AP000779.1 lincRNA 55 76 84 28 46 33 33 29 56 ENSG00000285922 chr1 98052077 98054592 - AC104453.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285923 chr1 108661533 108666246 + AL160171.1 bidirectional_promoter_lncRNA 1 4 4 0 0 0 3 2 5 ENSG00000285925 chr2 37339957 37343796 - AC007391.2 antisense 0 1 0 6 1 14 6 0 15 ENSG00000285926 chr7 23200131 23206059 - AC005082.2 antisense 5 5 7 6 13 6 11 3 5 ENSG00000285927 chr8 7544676 7545300 + AC134684.10 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285928 chr1 78022565 78024861 - AC103591.4 lincRNA 2 0 1 0 0 0 1 0 0 ENSG00000285929 chr13 26488952 26496120 + AL353789.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285930 chr17 58050789 58060739 - AC015813.8 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285931 chr17 69242230 69244097 + AC005495.1 antisense 0 4 2 0 0 0 0 0 0 ENSG00000285932 chr10 99651595 99732112 - AL133353.2 protein_coding 3 5 6 1 1 0 3 2 0 ENSG00000285933 chr11 71745331 71747051 + AP003498.2 lincRNA 7 18 14 0 0 0 0 0 0 ENSG00000285934 chr15 46365836 46381043 + AC091074.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285935 chr13 26685640 26698804 - AL159978.1 antisense 0 2 0 0 0 0 0 0 0 ENSG00000285936 chr14 72701762 72704280 + AL392024.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285937 chr8 7738387 7741396 + AC084121.12 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285938 chr3 187743686 187746028 + AC072022.2 antisense 682 620 1024 606 613 1036 715 505 862 ENSG00000285939 chr17 53276760 54066825 - AC034268.2 antisense 0 0 0 0 0 0 1 0 0 ENSG00000285940 chr18 37565281 37762131 + AC009899.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285941 chr6 123589711 123685323 + AL133257.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285942 chr15 42497395 42548786 - AC018362.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285943 chr3 113361901 113515151 - AC112128.1 protein_coding 4 1 3 2 7 4 8 6 0 ENSG00000285944 chrX 37700040 37700277 + AC233297.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285945 chr1 2768091 2784733 + AC242022.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285946 chr1 152859996 152860985 + AL162596.1 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285947 chr17 63917203 63931385 - AC127029.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285948 chr15 32624106 32641615 - AC123768.5 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285950 chr8 7768977 7771988 + AC084121.13 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285952 chr16 4777939 4801423 - AC020663.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285953 chr7 92131774 92245924 - AC000120.3 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285954 chr1 53344031 53365473 + AC119428.3 lincRNA 0 0 0 0 0 0 0 1 0 ENSG00000285955 chr10 122435924 122461383 - BX842242.1 antisense 0 0 0 0 1 0 0 0 0 ENSG00000285956 chr5 139012329 139012441 + AC011405.2 rRNA_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285957 chr8 1957921 1963131 - AC019257.7 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285958 chr10 52946431 52955585 - AC073174.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285959 chr1 21983606 22030617 + AL590556.3 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285960 chr7 25431980 25500443 + AC005100.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285961 chr6 92002610 92180156 - AL590814.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285963 chr6 71532070 71534715 + AL035467.2 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285964 chr7 94311138 94347063 + AC002074.2 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285966 chr14 76958098 77000609 - AC007686.4 lincRNA 35 36 33 107 78 53 87 43 47 ENSG00000285967 chr5 36864425 36876700 - NIPBL-DT bidirectional_promoter_lncRNA 646719 196 151 248 100 152 127 120 106 135 ENSG00000285968 chr22 25282613 25320086 + AL022324.4 processed_transcript 0 0 0 0 0 0 0 0 0 ENSG00000285969 chr3 14791534 14793504 + AC087591.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285970 chr16 2430702 2437103 - AC106820.6 antisense 2 0 0 0 3 0 1 1 0 ENSG00000285971 chr8 62191088 62249879 - AC023095.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285972 chr10 84167228 84172093 - CERNA2 lincRNA This gene produces a long non-coding transcript that functions in ovarian carcinogenesis by promoting tumor cell migration, invasion and proliferation. It binds to the microRNA let-7b (MIRLET7B), which is a potent tumor suppressor, thereby inhibiting the functions of that microRNA by modulating its availability to its targets. [provided by RefSeq, Dec 2015]. 642934 0 0 0 0 0 0 0 0 0 ENSG00000285973 chr10 122145106 122155176 - AC063960.2 antisense 0 1 0 0 0 0 0 0 0 ENSG00000285974 chr15 82180743 82182700 + AC026624.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285975 chr8 7556700 7559712 - AC134684.11 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285976 chr6 63572012 63583587 + AL135905.2 protein_coding 12 9 23 44 58 54 52 66 51 ENSG00000285977 chr8 4633065 4635654 + AC022068.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285978 chr5 178694605 178729335 - AC113348.2 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285979 chr16 57177349 57181390 + AC009090.6 antisense 323 422 471 305 513 517 389 357 450 ENSG00000285980 chr11 131546662 131581145 - AP003025.2 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285981 chr1 104998406 105032365 - AL591888.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285982 chr8 103398658 103501895 - AC012213.5 protein_coding 0 0 0 0 0 0 0 0 0 ENSG00000285984 chr2 30887626 30897387 - AC009301.1 lincRNA 3 4 3 0 2 16 1 7 2 ENSG00000285985 chr11 1350359 1364286 + AC136297.1 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285986 chr1 196850283 196884793 + BX248415.1 unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285987 chr9 84316514 84657077 + AL157886.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285988 chr10 6737418 6840712 + AL392086.3 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285989 chrX 138558996 138559298 + AL357123.1 TEC 0 0 0 0 0 0 0 0 0 ENSG00000285990 chr14 19244904 19269380 - AL589743.7 transcribed_unprocessed_pseudogene 0 0 0 0 0 0 0 0 0 ENSG00000285991 chr6 149817937 149896011 - AL355312.5 protein_coding 0 0 3 0 3 0 0 0 0 ENSG00000285992 chr8 47129262 47132628 + AC120036.5 lincRNA 0 0 0 0 0 0 0 0 0 ENSG00000285993 chr18 46409197 46410645 - AC018931.1 antisense 0 0 0 0 0 0 0 0 0 ENSG00000285994 chr10 12563151 12567351 + AL731559.1 sense_intronic 32 27 34 26 37 13 37 26 24